# RGD-PIPELINE: ftp-file-extracts # MODULE: genes-version-2.1.2.6 # GENERATED-ON: 2014/10/17 # PURPOSE: information about active Human genes extracted from RGD database # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by ';' # ### As of Apr 1, 2011 RATMAP_IDs and RHDB_IDs are discontinued. ### As of Apr 15, 2011 GENE_REFSEQ_STATUS column is provided. ### As of Jul 1, 2011 fixed generation of CURATED_REF_PUBMED_IDs and UNCURATED_PUBMED_IDs ### As of Nov 23, 2011 ver 2.1.2: no format changes (UniGene Ids are extracted from db in different way). ### As of Dec 19, 2011 ver 2.1.2.1: no format changes (fixed documentation in header to be consistent with column names). ### As of May 31, 2012 ver 2.1.2.2: no format changes (improved generation speed). ### As of July 6, 2012 ver 2.1.2.3: no format changes (added generation of file GENES_RAT_5.0). ### As of Oct 23, 2012 ver 2.1.2.4: obsoleted column 23 'UNCURATED_REF_MEDLINE_ID' - changed to '(UNUSED)'. ### As of Dec 17, 2012 ver 2.1.2.5: no format changes. ### As of Aug 19, 2013 ver 2.1.2.6: gene descriptions made consistent with gene report pages from RGD website. # #COLUMN INFORMATION: # (First 38 columns are in common between rat, mouse and human) # #1 GENE_RGD_ID the RGD_ID of the gene #2 SYMBOL official gene symbol #3 NAME gene name #4 GENE_DESC gene description (if available) #5 CHROMOSOME_CELERA chromosome for Celera assembly #6 CHROMOSOME_37 chromosome for the old reference assembly build 37 #7 CHROMOSOME_38 chromosome for the current reference assembly build 38 #8 FISH_BAND fish band information #9 START_POS_CELERA start position for Celera assembly #10 STOP_POS_CELERA stop position for Celera assembly #11 STRAND_CELERA strand information for Celera assembly #12 START_POS_37 start position for old reference assembly build 37 #13 STOP_POS_37 stop position for old reference assembly build 37 #14 STRAND_37 strand information for old reference assembly build 37 #15 START_POS_38 start position for current reference assembly build 38 #16 STOP_POS_38 stop position for current reference assembly build 38 #17 STRAND_38 strand information for current reference assembly build 38 #18 CURATED_REF_RGD_ID RGD_ID of paper(s) used to curate gene #19 CURATED_REF_PUBMED_ID PUBMED_ID of paper(s) used to curate gene #20 UNCURATED_PUBMED_ID PUBMED ids of papers associated with the gene at NCBI but not used for curation #21 ENTREZ_GENE EntrezGene id #22 UNIPROT_ID UniProtKB id(s) #23 (UNUSED) blank #24 GENBANK_NUCLEOTIDE GenBank Nucleotide ID(s) #25 TIGR_ID TIGR ID(s) #26 GENBANK_PROTEIN GenBank Protein ID(s) #27 UNIGENE_ID UniGene ID(s) #28 SSLP_RGD_ID RGD_ID(s) of SSLPS associated with given gene #29 SSLP_SYMBOL SSLP symbol #30 OLD_SYMBOL old symbol alias(es) #31 OLD_NAME old name alias(es) #32 QTL_RGD_ID RGD_ID(s) of QTLs associated with given gene #33 QTL_SYMBOL QTL symbol #34 NOMENCLATURE_STATUS nomenclature status #35 SPLICE_RGD_ID RGD_IDs for gene splices #36 SPLICE_SYMBOL symbol for gene #37 GENE_TYPE gene type #38 ENSEMBL_ID Ensembl Gene ID #39 HGNC_ID Human Genome Nomenclature Committee ID #40 HPRD_ID Human Protein Reference Database ID #41 OMIM_ID Online Mendelian Inheritance in Man ID #42 GENE_REFSEQ_STATUS gene RefSeq Status (from NCBI) # GENE_RGD_ID SYMBOL NAME GENE_DESC CHROMOSOME_CELERA CHROMOSOME_37 CHROMOSOME_38 FISH_BAND START_POS_CELERA STOP_POS_CELERA STRAND_CELERA START_POS_37 STOP_POS_37 STRAND_37 START_POS_38 STOP_POS_38 STRAND_38 CURATED_REF_RGD_ID CURATED_REF_PUBMED_ID UNCURATED_PUBMED_ID ENTREZ_GENE UNIPROT_ID (UNUSED) GENBANK_NUCLEOTIDE TIGR_ID GENBANK_PROTEIN UNIGENE_ID SSLP_RGD_ID SSLP_SYMBOL OLD_SYMBOL OLD_NAME QTL_RGD_ID QTL_SYMBOL NOMENCLATURE_STATUS SPLICE_RGD_ID SPLICE_SYMBOL GENE_TYPE ENSEMBL_ID HGNC_ID HPRD_ID OMIM_ID GENE_REFSEQ_STATUS 6481317 A2ML1-AS1 A2ML1 antisense RNA 1 p13.31 100874108 AC006513;AC092490;DB552640 Hs.642063 APPROVED ncrna HGNC:41022 6766578 A2M-AS1 A2M antisense RNA 1 (head to head) INTERACTS WITH valproic acid 12 12 12 p13.31 10754899 10757777 + 9217773 9220651 + 9065177 9068055 + 6480464 14702039 144571 ABBA01012257;AC007436;AK056852;AK096375;AMYH02025998;HG504498;NR_026971 Hs.592432 2139910 SGC31674 RP11-436I9.2 APPROVED ncrna ENSG00000245105 HGNC:27057 PREDICTED 2311720 A1BG-AS1 A1BG antisense RNA 1 19 19 19 q13.4 55907329 55910543 + 58863336 58866549 + 58351970 58355183 + 12477932 503538 ABBA01020773;AC012313;AK027222;AMYH02036533;BC006144;BC040926;HG511104;HG511106;NR_015380 Hs.709582 1721049;1771488;2158079 G59506;RH65092;WI-16009 A1BG-AS;A1BGAS;FLJ23569;NCRNA00181 APPROVED ncrna ENSG00000268895 HGNC:37133 PREDICTED 1350441 A2MP1 alpha-2-macroglobulin pseudogene 1 INTERACTS WITH 17beta-estradiol 12 12 12 p13.31 10921342 10924048 - 9381129 9386803 - 9228533 9234207 - 1299021;6480464 2478422 16344560;19105203;20617511;21338416;22747683 3 ABBA01012258;AC010175;AMYH02025998;DB301195;DV080209;DV080210;DY655603;DY655604;M24415;NR_040112 Hs.569125 A2MP APPROVED pseudo ENSG00000256069 HGNC:8 VALIDATED 69466 A1BG alpha-1-B glycoprotein The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 55902160 55908858 - 58858172 58864865 - 58346806 58353499 - 1580863;6480464 12477932;14702039;14760718;15221005;15461460;15489334;16335952;16502470;18706098;19056867;20116414;21591266;21900206;21988832;23284758;23418544;23690342;24250222;2591067;3458201;3610142;8889549 1 M0R009;P04217;V9HWD8 AA484435;AB073611;ABBA01020773;AC010642;AC012313;AF414429;AI022193;AK055885;AK056201;AK289417;AMYH02036533;BC035719;BX325198;BX537419;CH471135;EU794585;NM_130786;T80683;W25099 AAH35719;AAL07469;ACJ13639;BAD38648;BAF82106;BAG51591;CAD97661;EAW72575;NP_570602;P04217 Hs.529161;Hs.709582 1721049;1771488;2158079;5015861;5016781;5022651;5024039;5037552;5109663;7185938 D10S16;D11S2921;D16S325;D7S2067E;D8S2279;G59506;RH65092;SHGC-67307;WI-16009 A1B;ABG;DKFZp686F0970;GAB;HYST2477 HEL-S-163pA;alpha-1B-glycoprotein;epididymis secretory sperm binding protein Li 163pA APPROVED protein-coding ENSG00000121410 HGNC:5 00726 138670 REVIEWED 1606453 A2ML1 alpha-2-macroglobulin-like 1 This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein acts as an inhibitor for several proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID: 20805888). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 12 12 12 p13.31 10512687 10566801 + 8975150 9029381 + 8822554 8876785 + 6480464;8554872 10737800;12477932;14702039;16298998;16344560;17562024;18648652;19199708;19204726;20805888;23407400;24097068;24550385 144568 A8K2U0;B3KVV6;B7Z7V4;F5GXP1;F5GYG7;F5H2Z2;H0YGG5;H0YH14 ABBA01012252;ABBA01012253;ABBA01012254;AC006513;AC006581;AK057908;AK096448;AK122624;AK123591;AK123592;AK123601;AK290355;AK302555;AL832139;AL832750;AL833479;AMYH02025994;BC093840;BC112131;BF330285;BF354222;BX647674;BX648231;CH471116;DA436610;DA456454;DA461408;EL594621;NM_001282424;NM_144670 A8K2U0;AAH93840;AAI12132;AAI72370;BAB71612;BAC04793;BAC85494;BAC85653;BAC85654;BAF83044;BAG53918;BAH13740;EAW88602;EAW88603;EAW88604;EAW88605;EAW88606;EAW88607;NP_001269353;NP_653271 Hs.620532 CPAMD9;DKFZp686C1729;DKFZp686D2011;DKFZp686G1812;DKFZp686L1821;DKFZp686O1010;FLJ16045;FLJ25179;FLJ39129;FLJ41597;FLJ41598;FLJ41607 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9;C3 and PZP-like, alpha-2-macroglobulin domain containing 9;OTTHUMP00000158614;OTTHUMP00000236620;OTTHUMP00000236621;alpha-2-macroglobulin-like protein 1 APPROVED protein-coding ENSG00000166535 HGNC:23336 08684 610627 VALIDATED 735738 A2M alpha-2-macroglobulin Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits many proteases, including trypsin, thrombin and collagenase. A2M is implicated in Alzheimer disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 10757430 10805676 - 9220304 9268558 - 9067708 9115962 - 1302534;1300322;1300048;1549856;1598509;1331525;1598512;1598513;1300321;1358261;1580863;1549857;2298922;1598407;6480464;6484113;6907045;7240710;7401223;8699517;8554872 10319853;11498265;12494268;12809600;14960360;15118671;15509519;16177542;16538883;2475424;9697696;9843780 10373500;10652313;10681572;10714547;10731476;10880251;11023837;11036822;11058789;11099722;11100124;11121179;11162584;11166925;11231028;11281447;11290389;11435418;11436125;11455130;11484172;11496365;11811950;11823454;11901360;11910179;11916201;11987698;12015318;12042276;12059070;12062545;12123860;12175343;12194978;12221172;12394648;12477932;12538697;12631277;12754519;12755614;12755687;12782337;12782964;1281457;12966032;1370808;1374237;14506912;14637088;14675603;14678766;14687906;14715656;14718574;14759632;14760718;15023809;15226301;15231748;15468911;15489334;15511627;15611997;15793779;15862967;15908432;15910735;15931081;15950906;16040006;16169070;16232083;16289162;16297527;16335952;16384981;16402284;16407218;16456795;16641085;16650578;16784755;16910174;1692292;1697852;1702714;1707161;17071617;17110338;1724156;17288987;17403113;17453620;17608619;17967834;18029348;18075673;18077315;18171086;18191876;18382889;18485748;18499670;18579803;18624398;18706476;19074141;19105203;19472074;19639019;19913121;20048078;20085233;20156641;20207732;20301340;20381197;20401725;20493925;20575108;20587546;20628086;20637261;20800603;20861575;21163940;21216953;21541797;21642630;21900206;21971609;21988832;22268729;22541546;22576683;22971340;23064953;23086799;23089609;23186781;23353684;23379699;23383108;23397525;23535567;23602568;23643808;23721263;23786280;23846698;24011543;2408344;24093110;2430963;2459995;2460294;2466831;2467766;2476070;24799681;2581245;3289986;59727;6153632;6165619;6167263;6172288;6191979;6195065;6203908;6698368;7519849;7524416;7533162;7533769;7680268;7690356;80233;8583572;8662763;89758;9166830;9344465;9398211;9428387;9714181;9724081;9831625;9865955 2 F5H1E8;F8W7L3;H0YFH1;P01023 AB209614;ABBA01012257;AC007436;AF349032;AF349033;AK307832;AK312482;AMYH02025998;AY591530;BC026246;BC040071;BX504041;BX647329;CH471116;CR749334;M11313;M36501;NG_011717;NM_000014;X68728;X68729;XM_006719056;Z11711 AAA51551;AAA51552;AAH26246;AAH40071;AAK38109;AAK38110;AAT02228;BAD92851;CAA48670;CAA77774;CAH18188;EAW88590;NP_000005;P01023;XP_006719119 Hs.212838 1662765;1694930;1721679;1741555;1794408;2127497;2139910;2162034;5091865;5096722;5108442;5109727 D12S1160E;D12S1395E;G44356;G59851;GDB:181517;PMC311069P4;RH11157;RH1601;RH46356;RH70338;SGC31674;SGC33440 A2MD;CPAMD5;DKFZp779B086;FWP007;S863-7 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5;OTTHUMP00000196829;alpha-2-M APPROVED protein-coding ENSG00000175899 HGNC:7 00072 103950;104300;614036 REVIEWED 733348 A1CF APOBEC1 complementation factor Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 10 10 10 q11.23 45829119 45908228 - 52559169 52645435 - 50799409 50885675 - 1300341;1300239;6480464;8554872 704405;734901 10669759;10781591;10833526;11072063;11134005;11329013;11352648;11571303;11577082;11718896;11752456;11815617;11871661;12477932;12881431;12896982;14702039;15148397;15164054;16055734;18029348;19932086;23263486 29974 B4E1E3;F8W9F8;Q5T0W7;Q9NQ94 ABBA01052491;AF209192;AF271789;AF271790;AJ272078;AJ272079;AK000324;AK130022;AK291982;AK303801;AL512366;AL589794;AMYH02023057;AMYH02023058;BC022263;BC054873;BC130519;BC144194;BC144196;BG188383;CH471083;CR749831;NG_029916;NM_001198818;NM_001198819;NM_001198820;NM_014576;NM_138932;NM_138933;XM_005269718;XM_005269719;XM_005269720;XM_006717808;XM_006717809 AAF34824;AAF76221;AAF76222;AAH54873;AAI30520;AAI44197;BAA91086;BAF84671;BAG64755;CAB94754;CAB94755;EAW54133;EAW54134;EAW54135;EAW54136;EAW54137;EAW54138;NP_001185747;NP_001185748;NP_001185749;NP_055391;NP_620310;NP_620311;Q9NQ94;XP_005269775;XP_005269776;XP_005269777;XP_006717871;XP_006717872 Hs.282795 1644398;1699864;2109023;2116001;2123823;2164434;2164436;5094146 A006G44;ACF_9619;D10S1464;G20794;G54572;RH103539;RH46928;RH70135 ACF;ACF64;ACF65;APOBEC1CF;ASP;MGC163391;RP11-564C4.2 APOBEC-1 stimulating protein;APOBEC1-stimulating protein;OTTHUMP00000019611;OTTHUMP00000019612;OTTHUMP00000019614;OTTHUMP00000019615;apo-B RNA editing protein;apobec-1 complementation factor (ACF) (ASP);apobec-1 complementation factor, apobec-1 stimulating protein APPROVED protein-coding ENSG00000148584 HGNC:24086 10627 REVIEWED 1606731 A3GALT2 alpha 1,3-galactosyltransferase 2 ENCODES a protein that exhibits alpha-1,3-galactosyltransferase activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); glycosphingolipid biosynthetic process (inferred); FOUND IN membrane (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); beta-naphthoflavone (ortholog) 1 1 1 p35.1 32044033 32050184 - 33772367 33786699 - 33306766 33321098 - 6480464 18630988;23378701 127550 U3KPV4 ABBA01023379;ABBA01023380;AL513327;AMYH02000732;AMYH02000733;NM_001080438 NP_001073907 A3GALT2P;IGBS3S alpha 1,3-galactosyltransferase 2, pseudogene;globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 pseudogene;iGb3 synthase;isoglobotriaosylceramide synthase APPROVED protein-coding ENSG00000184389 HGNC:30005 INFERRED 1342487 AA atrophia areata, peripapillary chorioretinal degeneration 1298614 7795606 8 HGNC:11 734223 A4GALT alpha 1,4-galactosyltransferase The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 26998618 27027359 - 43088123 43117307 - 42692117 42721301 - 1300231;1580863;6480464;6907045;8554872 7795329 10591208;10747952;10748143;10854428;10993874;11782470;11896312;12477932;12888565;15142124;15489334;16212661;16712791;18067504;18187620;18757779;19139081;19470247;20467438;20732996;20837469;20961863;20971946;21092013;21186071;22965229;23927681;24082034;24417201 53947 Q6RJV6;Q9NPC4 AB037883;AB041418;ABBA01017929;AF513323;AF513326;AF513327;AJ245581;AK074388;AK312927;AL049757;AMYH02038466;AMYH02038467;AMYH02038468;AX211273;AY166861;AY166862;AY166863;AY358074;AY496228;AY496229;AY496230;AY941797;BC017068;BC055286;CB150578;CH471138;GU902277;KF457468;NG_007495;NM_017436;XM_005261643;XM_005261644;XM_005261646;XM_005261647;XM_005261648;XM_006724265;XM_006724266;XM_006724267;Z82176 AAH17068;AAH55286;AAO39149;AAO39150;AAO39151;AAP47164;AAP47167;AAP47168;AAQ68076;AAS77214;AAS77215;AAS77216;AAX20109;ABM82545;ABM85737;BAA94503;BAA95915;BAG35771;CAB93532;CAC69260;EAW73274;NP_059132;Q9NPC4;XP_005261700;XP_005261701;XP_005261703;XP_005261704;XP_005261705;XP_006724328;XP_006724329;XP_006724330 Hs.105956 1341545;1685636;1797228;2143287 A4GALT_673;D22S417;D22S559;RH98428 A14GALT;A4GALT1;Gb3S;P(k);P1;P1PK;PK CD77 synthase;GB3 synthase;P blood group (P one antigen);P(k) antigen synthase;P1/Pk synthase;UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase;alpha-1,4-N-acetylglucosaminyltransferase;alpha4Gal-T1;globotriaosylceramide synthase;lactosylceramide 4-alpha-galactosyltransferase APPROVED protein-coding HGNC:18149 06390 111400;607922 REVIEWED 1348447 A4GNT alpha-1,4-N-acetylglucosaminyltransferase This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008] 3 3 3 p14.3 136267340 136276009 - 137842560 137851229 - 138123718 138132387 - 1580863;2325199;8554872 16441422 10430883;11304796;12477932;12594234;15489334;18029348;19751437;20379614;22307328;8125298 51146 Q9UNA3 ABBA01059096;AC023049;AF141315;AK225668;AMYH02007764;BC119639;BC119640;CH471052;NM_016161 AAD48406;AAI19640;AAI19641;EAW79084;NP_057245;Q9UNA3 Hs.278960 1792960;2109017 A4GNT_9671;PMC17720P1 MGC149493;alpha4GnT OTTHUMP00000216632 APPROVED protein-coding ENSG00000118017 HGNC:17968 12390 REVIEWED 8552198 AADACL2-AS1 AADACL2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 3 3 151472860 151645963 - 151751179 151928175 - 8554872 20694011 101928142 ABBA01058902;AC068647;AC069067;AC084301;AMYH02007904;AMYH02007905;AMYH02007906;DB454604;HG496193;HG496194;HY022483;HY205836;NR_110202;NR_110203 Hs.680207 ncrna HGNC:50301 VALIDATED 737554 AADAC arylacetamide deacetylase Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008] 3 3 3 q25.1 149949986 149964402 + 151531769 151546276 + 151813974 151828488 + 1580863;6480464;8554872 10318829;11481320;12477932;12721789;15152005;15489334;17936933;18029348;19339378;19343046;20379614;2043131;20694011;21856291;22415931;23542347;24125761;8063807;9299245;9665742 13 C9K0E9;P22760 ABBA01058902;AC068647;AK290628;AMYH02007904;AV705031;BC020706;BC032309;CH471052;L32179;NM_001086;XM_005247103;XM_005247104 AAA35551;AAH32309;BAF83317;EAW78791;EAW78792;NP_001077;P22760;XP_005247160;XP_005247161 Hs.506908 1719865;1775443;2116237;2218966;5024050 AADAC__4228;D3S4189;RH124029;RH36344;STS-L32179 CES5A1;DAC OTTHUMP00000216826;OTTHUMP00000216827;arylacetamide deacetylase (esterase) APPROVED protein-coding ENSG00000114771 HGNC:17 02640 600338 REVIEWED 1318625 AAAS achalasia, adrenocortical insufficiency, alacrimia The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 12 12 12 q13 53350517 53364688 - 53701240 53715412 - 53307456 53321628 - 1549858;1598514;1580863;6480464;7240710;8554872;8699517 15680696;16098009 10601273;11062474;11159947;11701718;11815731;11914417;12228227;12477932;12730363;12752575;14702039;15022193;15217518;15489334;15666842;15843079;16009940;16022285;16543750;16609705;16938764;18029348;18175081;18781797;19011813;19172511;19322026;19703420;19782045;19855093;19946888;20447142;20499090;20931227;21139048;21565631;21890473;21906983;21963094;21987572;21988832;22118674;22505724;23073554;23825130;24654937;24816145;8125298;8968764 8086 F8VUB6;F8VZ44;H3BU82;Q9NRG9 ABBA01008325;AC073611;AF226048;AJ289841;AJ289857;AJ297977;AK000833;AK094302;AK222509;AK293342;AL110160;AMYH02026517;AY237818;BC000659;BC018836;BT006912;CH471054;DC393722;NG_016775;NM_001173466;NM_015665;XM_006719617;XM_006719618;XM_006719619 AAF86948;AAH00659;AAP35558;AAP69911;ABM84232;ABM84790;BAA91394;BAD96229;BAG56858;CAB53665;CAC17465;CAC19017;CAC19038;EAW96692;EAW96693;NP_001166937;NP_056480;Q9NRG9;XP_006719680;XP_006719681;XP_006719682 Hs.369144 1736262;2146252;2149106;5020771 A008D12;D12S1190E;D12S1220E;RH15738 AAA;DKFZp586G1624;GL003 AAASb;ADRACALA;ADRACALIN;Allgrove, triple-A;OTTHUMP00000241954;OTTHUMP00000241955;OTTHUMP00000241957;achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A);aladin APPROVED protein-coding ENSG00000094914 HGNC:13666 05646 231550;605378 REVIEWED 732340 AACS acetoacetyl-CoA synthetase ENCODES a protein that exhibits acetoacetate-CoA ligase activity (inferred); ATP binding (inferred); butyrate-CoA ligase activity (inferred); INVOLVED IN adipose tissue development (inferred); cellular response to cholesterol (inferred); cellular response to glucose stimulus (inferred); PARTICIPATES IN butanoate metabolic pathway; ketone bodies metabolic pathway; ASSOCIATED WITH Diabetes Mellitus, Experimental (ortholog); Obesity (ortholog); FOUND IN cytoplasm (inferred); INTERACTS WITH cyclosporin A; isotretinoin; 17beta-estradiol (ortholog) 12 12 12 q24.31 125154148 125231815 + 125549925 125627879 + 125065379 125143333 + 1300048;2301022;2326093;2326191;6480464;6907045;8554872 12034369;15877199;19219059 12477932;12623130;14702039;17762044;18660489;20102333;21139048;21890473;21963094;24816145;4073493;9671465 65985 E7EW25;Q86V21 AB054121;ABBA01060343;ABBA01060344;ABBA01060345;ABBA01060346;ABBA01060347;ABBA01060348;ABBA01060349;ABBA01060350;ABBA01060351;AC122688;AK022451;AK022740;AK024036;AK024760;AK123245;AK304176;AK308779;AL833047;AMYH02027483;AMYH02027484;AY091468;BC004997;BC036694;BC040490;BC040574;BC041000;BC051862;CH471054;NM_023928;XM_005253609;XM_005253610;XM_005253611;XR_242960 AAH04997;AAH36694;AAH40490;AAH40574;AAH41000;AAH51862;AAM44124;BAB14040;BAB14216;BAB14793;BAB14991;BAD22560;BAG65058;CAH56309;EAW98473;EAW98474;EAW98475;NP_076417;Q86V21;XP_005253666;XP_005253667;XP_005253668 Hs.656073 2115113;2174109;5015739 A004F14;D21S1952;RH79052 ACSF1;FLJ12389;FLJ41251;SUR-5 OTTHUMP00000239025;acetoacetate-CoA ligase;acyl-CoA synthetase family member 1;homolog of C. elegans supressor of ras 5 (sur-5);protein sur-5 homolog protein-coding ENSG00000081760 HGNC:21298 12391 614364 VALIDATED 1604681 AACSP1 acetoacetyl-CoA synthetase pseudogene 1 5 5 5 q35.3 173819191 173830764 - 178191862 178203277 - 178764861 178776276 - 10682835;12477932 729522 AA954365;ABBA01010006;AC113348;AC126915;AMYH02012866;AMYH02012867;BC024222;BC140764;BC144474;DR008193;NR_024035 AAI40765 Hs.382790 1715233;2122465 D5S2536;RH119867 AACSL APPROVED pseudo HGNC:18226 VALIDATED 8552214 AADACP1 arylacetamide deacetylase pseudogene 1 3 3 3 q25.1 149906388 149920826 + 151488244 151502682 + 151770456 151784894 + 6480464 201651 ABBA01058902;AC068647;AMYH02007904;BC014344;NR_026915 Hs.383050 pseudo ENSG00000240602 HGNC:50305 PROVISIONAL 1602438 AADACL3 arylacetamide deacetylase-like 3 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene (ortholog) 1 1 1 p36.21 11888626 11901234 + 12776118 12788726 + 12716115 12728759 + 6480464;8554872 16710414 126767 Q5VUY0 ABBA01003098;AC244670;AK127828;AL513016;BG697255;NM_001103169;NM_001103170;NR_111984;XM_006710337 BAG54581;NP_001096639;NP_001096640;Q5VUY0;XP_006710400 Hs.464705 1756027 SHGC-142838 RP11-474O21.3 OTTHUMP00000001868;OTTHUMP00000001869 protein-coding ENSG00000188984 HGNC:32037 VALIDATED 1606396 AADACL2 arylacetamide deacetylase-like 2 ENCODES a protein that exhibits carboxylic ester hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN extracellular region (inferred); integral component of membrane (inferred) 3 3 3 q25.1 149869849 149893701 + 151451704 151475556 + 151733916 151757768 + 12477932;17207965;17562024 344752 F8WFE5;Q6P093 ABBA01058902;ABBA01058903;AC069067;AMYH02007904;BC065724;BX118873;BX647585;CH471052;CU449274;NM_207365 AAH65724;ADQ32028;CAI46075;EAW78796;EAW78797;NP_997248;Q6P093 Hs.144710 1661016;1723779;2184906 RH118627;RH67844;STS-D25713 MGC72001 OTTHUMP00000208912 protein-coding ENSG00000197953 HGNC:24427 14705 VALIDATED 1603850 AADACL4 arylacetamide deacetylase-like 4 ENCODES a protein that exhibits carboxylic ester hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog) 1 1 1 p36.21 11817069 11839616 + 12704566 12727097 + 12644547 12667086 + 6480464;8554872 16710414;23251661 343066 Q5VUY2 ABBA01003095;ABBA01003096;AC244670;AC254633;AL513016;CH471130;NM_001013630;XM_006710608 EAW71744;NP_001013652;Q5VUY2;XP_006710671 Hs.209954 1692760 AL034145 OTTHUMP00000001872 protein-coding ENSG00000204518 HGNC:32038 15402 PROVISIONAL 1606004 AADAT aminoadipate aminotransferase This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 q33 168313662 168343661 - 170981373 171012823 - 170060222 170090531 - 2290313;2290312;6480464;6907045;8554872 3400092;6466295 10441733;12126930;12477932;14702039;15489334;17207965;1798692;18056995;18056996;18620547;20877624;21473761;21712776;23408906;8087205 51166 D6RC56;D6REB9;D6RFY7;Q4W5N8;Q8N5Z0 ABBA01070343;AC084866;AF481738;AI190763;AK055952;AK314729;AMYH02010486;BC031068;CH471056;NM_001286682;NM_001286683;NM_016228;NM_182662;XM_006714231 AAH31068;AAM09683;AAY41030;ADQ32439;BAG37271;BAG51596;EAX04770;EAX04771;EAX04772;NP_001273611;NP_001273612;NP_057312;NP_872603;Q8N5Z0;XP_006714294 Hs.529735 1678037;1752677;1797230;2149339 AADAT_2008;D4S2681;RH98386;SHGC-106503 KAT/AadAT;KAT2;KATII 2-aminoadipate aminotransferase;2-aminoadipate transaminase;L kynurenine/alpha aminoadipate aminotransferase;OTTHUMP00000219261;OTTHUMP00000219264;OTTHUMP00000219276;OTTHUMP00000219277;alpha-aminoadipate aminotransferase;kynurenine aminotransferase II;kynurenine--oxoglutarate aminotransferase II;kynurenine--oxoglutarate transaminase 2;kynurenine--oxoglutarate transaminase II;kynurenine/alpha-aminoadipate aminotransferase, mitochondrial APPROVED protein-coding ENSG00000109576 HGNC:17929 12392 611754 REVIEWED 1313944 AAED1 AhpC/TSA antioxidant enzyme domain containing 1 INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 9 9 9 q22.32 69845106 69859172 - 99403109 99417603 - 96640827 96655317 - 6480464 12234665;12477932;14710190;15164053;16341674;19322201 195827 B7ZKK1;H0Y5J5;H0Y7F1;Q7RTV5 ABBA01043573;ABBA01043574;ABBA01043575;AL353578;AMYH02021300;BC136501;BC136503;BF445089;BK000255;BM843088;BU631382;CH471174;NM_153698;XM_005251783;XM_005251784 AAI36502;AAI36504;DAA00065;EAW92661;EAW92662;EAW92663;NP_714542;Q7RTV5;XP_005251840;XP_005251841 Hs.44640 1336988 D12S1672 C9orf21 OTTHUMP00000021724;OTTHUMP00000021725;OTTHUMP00000021726;UPF0308 protein C9orf21;ahpC/TSA antioxidant enzyme domain-containing protein 1;hypothetical protein LOC195827;thioredoxin-like protein AAED1 APPROVED protein-coding HGNC:16881 18571 VALIDATED 1605954 AAGAB alpha- and gamma-adaptin binding protein The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 15 15 15 q22.33-q23 44380867 44434572 - 67493013 67547536 - 67200675 67255198 - 6480464;7240710;8699517;8554872 10477754;11076863;11230166;11256614;12477932;14702039;15489334;15489336;16169070;16344560;16381901;17081983;19322201;20641033;21139048;22505724;23000146;23064416;23448244;23563198;23633024;23743648;24390136;8889548 79719 H0YL49;Q6PD74 ABBA01038804;AC012568;AC110292;AK021568;AK294402;AL136715;AL832256;AMYH02030664;BC001975;BC035852;BC047026;BC058886;BQ185328;BX648272;CB243401;CH471082;CR533540;DA160293;DA688370;DC315715;NG_033007;NM_001271885;NM_001271886;NM_024666;XM_005254664;XM_006720683 AAH01975;AAH47026;AAH58886;BAB13845;BAG57655;CAB66649;CAG38571;CAH10544;CAI46180;CAL37898;CAL38289;EAW77792;EAW77793;NP_001258814;NP_001258815;NP_078942;Q6PD74;XP_005254721;XP_006720746 Hs.254642;Hs.602761 1686572;1855868;2115361;2181916 NIB1217;RH98780;STS-AA001611;WI-14364 DKFZp667D2317;DKFZp686G08119;FLJ11506;KPPP1;PPKP1;PPKP1A;p34 alpha- and gamma-adaptin-binding protein p34 protein-coding ENSG00000103591 HGNC:25662 07754 148600;614888 REVIEWED 1607091 AAMP angio-associated, migratory cell protein The gene product is an immunoglobulin-type protein. It is found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics. The protein contains a heparin-binding domain and mediates heparin-sensitive cell adhesion. [provided by RefSeq, Jul 2008] 2 2 2 q35 212895431 212901472 - 219128852 219134893 - 218264129 218270170 - 6480464 10329261;11969303;12477932;15146197;15489334;16169070;16344560;18634987;19535145;20237496;21139048;21163940;21172430;21297633;21890473;21900206;21906983;21963094;22505724;22797925;22863883;22990118;23000965;23470693;23564791;7743515;8125298;8660919 14 C9JEH3;C9JG97;C9JTS3;H7C0R2;Q13685 AB209790;ABBA01023875;AC021016;AK131047;AK225078;AMYH02005786;BC008809;BC014122;BC020244;BC039866;BG534787;CH471063;CN277005;CR456755;DA465288;M95627;NG_033036;NM_001087;XM_005246325 AAA68889;AAH08809;AAH20244;AAH39866;BAD93027;CAG33036;EAW70599;EAW70600;EAW70601;NP_001078;Q13685;XP_005246382 Hs.83347 OTTHUMP00000207408;OTTHUMP00000207409;OTTHUMP00000207410;angio-associated migratory cell protein APPROVED protein-coding ENSG00000127837 HGNC:18 04600 603488 REVIEWED 1603054 AAMDC adipogenesis associated, Mth938 domain containing FOUND IN cytoplasm (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 11 11 11 q14.1 74840499 74891881 + 77532147 77583398 + 77821114 77872352 + 6480464 12477932;14702039;15489334;17207965;20379614;21139048;21832049;23824909 28971 E9PIQ4;E9PJP1;E9PLK9;E9PNP3;E9PR47;H0YF35;K4DI89;Q9H7C9 ABBA01017417;ABBA01017418;ABBA01017419;ABBA01017420;AF092136;AK024688;AMYH02025144;AP000580;AP002812;BC002752;BC016854;CH471076;CR457332;KF455418;NM_024684;XM_005273938 AAD40378;AAH02752;AAH16854;ADQ32842;BAB14963;CAG33613;EAW75036;EAW75037;EAW75038;EAW75039;NP_078960;Q9H7C9;XP_005273995 Hs.745040 1750507;1771090;1773037;1854952;2115639;5022651 D11S2921;G35311;RH36172;RH46290;SHGC-111817;WI-22785 C11orf67;CK067;FLJ21035;MGC3367;PTD015 OTTHUMP00000233914;OTTHUMP00000233915;OTTHUMP00000233920;UPF0366 protein C11orf67;adipogenesis associated Mth938 domain-containing protein;hypothetical protein LOC28971;mth938 domain-containing protein APPROVED protein-coding ENSG00000087884 HGNC:30205 17924 PROVISIONAL 1322325 AAR2 AAR2 splicing factor homolog (S. cerevisiae) This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 20 20 20 pter-q12 31573223 31593632 + 34824339 34844863 + 36236417 36256941 + 6480464 10810093;11230166;11780052;12477932;12665801;15489334;16189514;16196087;17207965;20360068;21139048;21145461;21890473;21906983;21963094;22505724;22797925;22939629;23000965;24816145 25980 A2A2Q9;Q9Y312 ABBA01019127;AF113672;AF132957;AL117419;AL121895;AMYH02037015;AW006181;BC001751;BC019311;CH471077;HY019727;NM_001271874;NM_015511;XM_005260385;XM_006723770 AAD27732;AAF29578;AAH01751;AAH19311;ADQ32438;CAB55913;EAW76141;EAW76142;EAW76143;NP_001258803;NP_056326;Q9Y312;XP_005260442;XP_006723833 Hs.11314;Hs.744306 1677040;1755233;2123971 RH80496;SHGC-142131;SHGC-64252 C20orf4;CGI-23;DKFZp564N1363;bA234K24.2 OTTHUMP00000030846;OTTHUMP00000178583;hypothetical protein LOC25980;protein AAR2 homolog;uncharacterized protein C20orf4 APPROVED protein-coding ENSG00000131043 HGNC:15886 12767 REVIEWED 736736 AANAT aralkylamine N-acetyltransferase The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 17 17 17 q25.1 71041811 71058583 + 74449433 74466199 + 76453351 76470117 + 1300232;1580863;1300048;2301030;2301037;2302130;6480464;6907045;7240710 12736803;16441550;17164235;18624957 11313340;11336675;11393533;11427721;11934439;12039872;12477932;12552951;14728993;15332344;15489334;17207965;17503170;18569588;18794762;19086053;19184136;19343046;19839995;20377855;20459461;20586889;21437622;21697133;21778461;2181999;7502081;8024705;8661026;8889549;9238858 15 F1T0I5;K7ERF6;K7ESH7;Q16613 AA084486;AB023793;AB023794;AB023795;AB023796;AB023797;AB593119;ABBA01028742;AC015802;AF360979;AI819939;AMYH02034013;AY055827;BC069434;BC092430;BC126332;BC126334;BC143989;CH471099;NG_015976;NM_001088;NM_001166579;NR_110548;U40347;U40391 AAC50554;AAC50555;AAH69434;AAH92430;AAI26333;AAI26335;AAK49981;ADQ32919;BAB20312;BAB20313;BAB20314;BAB20315;BAB20316;BAJ84059;EAW89400;NP_001079;NP_001160051;Q16613 Hs.431417 2216962 AANAT_2920 AA-NAT;DSPS;SNAT arylalkylamine N-acetyltransferase;arylalkylamine n - acetyltransferase;serotonin N-acetyltransferase;serotonin acetylase APPROVED protein-coding ENSG00000129673 HGNC:19 02974 600950;614163 REVIEWED 2311262 AARD alanine and arginine rich domain containing protein INVOLVED IN lung development (inferred); INTERACTS WITH paracetamol; 17alpha-ethynylestradiol (ortholog); all-trans-retinoic acid (ortholog) 8 8 8 q24.11 114139154 114144929 + 117950464 117956239 + 116938225 116944000 + 6480464 12477932;20549515 441376 B2RU19;Q4LEZ3 AB181519;ABBA01037793;AC087350;AMYH02018659;BC140924;BC142621;NM_001025357 AAI40925;AAI42622;BAE03184;NP_001020528;Q4LEZ3 Hs.437551 1650864;5093232;5118444 A009J48;D11S3316;G32598 C8orf85 OTTHUMP00000228048;alanine and arginine-rich domain-containing protein APPROVED protein-coding HGNC:33842 VALIDATED 1313595 AAK1 AP2 associated kinase 1 Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 p14 69535200 69722074 - 69685127 69901566 - 69457995 69643845 - 6480464;8554872 10470851;11877457;11877461;12471243;12477932;12952931;14617351;14702039;15292237;15302935;15489334;15815621;16083285;16344560;16782842;16903783;16964243;17178891;17494869;18029348;18657069;18976975;19380743;19772629;20379614;21464124;21832049;22645275;23934736 22848 E9PG46;Q2M2I8 AB028971;ABBA01075505;ABBA01075506;ABBA01075507;ABBA01075508;AC079121;AC092431;AC114772;AC136007;AF090100;AF090101;AK055622;AK056043;AK074292;AK098797;AK124872;AK127187;AK310951;AMYH02004022;AMYH02004023;AW451954;AW969393;BC002695;BC073953;BC090950;BC104842;BC111965;BC132937;BC132939;BC143710;BX640963;BX641060;CA436375;CH471053;DA121999;DB285703;NM_014911 AAH02695;AAI04843;AAI11966;AAI43711;AAX88861;AAY14931;BAA83000;BAC86877;EAW99847;EAW99848;NP_055726;Q2M2I8 Hs.468878 1337247;1656192;1661977;1666485;1673673;1678443;1681376;1697148;1713095;1722833;1726605;1734872;1739013;1795208;2111188;2139761;2142488;2147149;2178497;5015404;5015861;5016596;5022578;5024761;5037552;5108775;5120437;7185938 A004N37;D10S16;D1S1423;D2S1631E;D2S1849;D2S1874;D2S2152;D2S420E;D3S1674;D8S2279;G60358;G62536;GDB:313505;GDB:315881;GDB:631802;HSC280_(HIRIPrep1);L17705;RH102060;RH120335;RH36415;RH36905;RH69534;RH81048;SHGC-34639;SHGC-57083;WI-13642;WI-21193 DKFZp686F03202;DKFZp686K16132;FLJ23712;FLJ25931;FLJ31060;FLJ42882;FLJ45252;KIAA1048;MGC138170;MGC164568;MGC164570;RP11-427H3.3 AP2-associated protein kinase 1;OTTHUMP00000202200;OTTHUMP00000202201;adaptor-associated kinase 1 APPROVED protein-coding ENSG00000115977 HGNC:19679 10620 REVIEWED 1606776 AARSD1 alanyl-tRNA synthetase domain containing 1 ENCODES a protein that exhibits alanine-tRNA ligase activity (inferred); ATP binding (inferred); ligase activity, forming aminoacyl-tRNA and related compounds (inferred); INVOLVED IN alanyl-tRNA aminoacylation (inferred); regulation of translational fidelity (inferred); tRNA aminoacylation (inferred); FOUND IN nucleus; INTERACTS WITH all-trans-retinoic acid; cyclosporin A; ethyl methanesulfonate 17 17 17 q21.31 37758676 37788796 - 41102543 41116515 - 42950526 42964498 - 6480464 12477932;14702039;15342556;15489334;16344560;21139048;21693764;21890473;21906983;21963094;22505724;22863883;24250222;24816145;25036637;7545954;8889549 80755 H7C1K1;K7EQ85;K7N799;L7N2F4;L7N2F5;Q9BTE6 ABBA01006395;ABBA01006396;ABBA01006397;ABBA01006398;AC055866;AK309477;AL515977;AMYH02033442;AMYH02033443;AW296090;BP368900;CA951145;NM_001261434 NP_001248363;Q9BTE6 Hs.317403 1690628;1775214;2148148;5108931 D17S1142;RH47203;RH99229;SHGC-34202 MGC2744 OTTHUMP00000204017;OTTHUMP00000204018;OTTHUMP00000204019;OTTHUMP00000204020;OTTHUMP00000204130;alanyl-tRNA editing protein Aarsd1;alanyl-tRNA synthetase domain-containing protein 1 protein-coding ENSG00000266967 HGNC:28417 14524 613212 VALIDATED 1312500 AARS alanyl-tRNA synthetase The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008] 16 16 16 q22 55204771 55241876 + 70286198 70323452 - 70252394 70289555 - 1298623;1580863;6480464;7240710;8554872;8699517 8595897 10508479;11532948;11829477;12477932;15489334;16263121;16751776;17081983;19738201;19946888;20045102;20301462;20301532;21139048;21319273;21549344;21890473;21906983;21963094;22009580;22053931;22505724;22573628;22586326;22623428;22863883;22939629;23000965;23862649;24654937;24816145;25027693;2915692;7654687;7761427;8076819;8125298 16 H3BPK7;P49588 ABBA01010671;ABBA01010672;ABBA01010673;AC009060;AC012184;AC093491;AK222824;AK225116;AK299098;AK307782;AMYH02032294;AMYH02032295;BC011451;BG764123;BU178772;CH471241;D32050;DQ591736;NG_023191;NM_001605;XM_006721153 AAH11451;ABM82560;ABM85750;BAA06808;BAD96544;BAG61157;EAW51838;EAW51839;EAW51840;NP_001596;P49588;XP_006721216 Hs.315137 1662218;1777544;2132308;2218170;5024085 A002L29;AARS__4231;D16S2972;RH65736;RH66606 CMT2N alaRS;alanine tRNA ligase 1, cytoplasmic;alanine--tRNA ligase;alanine--tRNA ligase, cytoplasmic;alanyl-tRNA synthetase, cytoplasmic;renal carcinoma antigen NY-REN-42 APPROVED protein-coding ENSG00000090861 HGNC:20 03042 601065;613287 REVIEWED 1321623 AARS2 alanyl-tRNA synthetase 2, mitochondrial The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011] 6 6 6 p21.1 45819616 45834241 - 44266463 44281094 - 44298726 44313357 - 6480464;8699517;8554872;7240710 10574462;10737800;12421765;12477932;14574404;15146197;15161933;15489334;15779907;18029348;20877624;21139048;21549344;21906983;22277967;24457600;24808023 57505 Q5JTZ9 AB033096;ABBA01050640;AL353588;AL536467;AMYH02013658;BC013593;BC021131;BC033169;BC041026;BC128175;BC131728;BF768723;CH471081;CN343332;NG_031952;NM_020745;XM_005249245;XR_241907 AAH13593;AAH33169;AAI28176;AAI31729;BAA86584;EAX04268;NP_065796;Q5JTZ9;XP_005249302 Hs.158381 1336615;5020740;5022651;5024413;5037552 D11S1286;D11S2921;D8S2279;L17809;L17877 COXPD8;KIAA1270;LKENP;MT-ALARS;bA444E17.1 AARSL;MTALARS;OTTHUMP00000016528;alaRS;alanine tRNA ligase 2, mitochondrial (putative);alanine--tRNA ligase;alanine--tRNA ligase, mitochondrial;alanyl-tRNA synthetase 2, mitochondrial (putative);alanyl-tRNA synthetase like;alanyl-tRNA synthetase, mitochondrial;alanyl-tRNA synthetase-like;probable alanyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000124608 HGNC:21022 12397 612035;614096;615889 REVIEWED 1606160 AASDH aminoadipate-semialdehyde dehydrogenase ENCODES a protein that exhibits acid-thiol ligase activity (ortholog); INVOLVED IN fatty acid metabolic process (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; potassium chromate 4 4 4 q12 54710829 54760021 - 57204450 57254265 - 56338284 56387698 - 6480464 11230166;12477932;12712191;15198809;15865210;17762044;24467666 132949 B4DFZ3;B4E195;B4E2K0;D6RJA2;E9PH98;Q4L235;R4GNB1 AA743758;ABBA01003422;ABBA01003423;ABBA01003424;AC068620;AF161436;AF516672;AK294332;AK303733;AK304309;AK316296;AMYH02009256;AY314787;AY422212;BC015096;BC071815;BC141824;BC142709;BX640635;BX648853;CH471057;DC306784;NM_001286668;NM_001286669;NM_001286670;NM_001286671;NM_001286672;NM_181806;XM_005265721;XM_005265724;XM_005265726;XM_005265727 AAF28996;AAH71815;AAI41825;AAI42710;AAP76519;AAQ83120;AAR31184;BAG57604;BAG64707;BAG65162;BAH14667;CAH56130;CAH56482;EAX05484;EAX05485;EAX05486;NP_001273597;NP_001273598;NP_001273599;NP_001273600;NP_001273601;NP_861522;Q4L235;XP_005265778;XP_005265781;XP_005265783;XP_005265784 Hs.104347 1337502;2113768 AB050266;D4S3000 ACSF4;LYS2;NRPS1098;NRPS998 2-aminoadipic 6-semialdehyde dehydrogenase;OTTHUMP00000159061;OTTHUMP00000219036;OTTHUMP00000219037;OTTHUMP00000219039;acyl-CoA synthetase family member 4;non-ribosomal peptide synthetase 1098;non-ribosomal peptide synthetase 998 protein-coding ENSG00000157426 HGNC:23993 12398 614365 VALIDATED 1322778 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008] 11 11 11 q22 103112558 103133685 + 105948292 105969419 + 106077565 106098692 + 1580863;6480464;6907045 10810093;10931946;11042152;11286508;12477932;12815048;15489334;16189514;18022563;19056867;19615732;19933275;20972266;21139048;21890473;21906983;21963094;21987572;22053931;22268729;22505724;22863883;22990118;24816145 60496 E9PLW6;E9PNF3;Q9NRN7 AB072896;ABBA01039900;AF136978;AF151057;AF151838;AF201943;AF302110;AK293362;AK312529;AL050073;AMYH02025514;AP001001;BC015470;BC016728;BX537665;CH471065;NM_015423 AAD34075;AAF36143;AAF86879;AAG30872;AAG49439;AAH15470;AAH16728;ABM82268;ABM85450;BAG35428;BAG56878;CAB43257;EAW67077;EAW67078;NP_056238;Q9NRN7 Hs.524009 1666128;1718341;2139890;2147643;2174951;5115319 D11S2325E;D11S4277;NIB321;RH11761;RH122942;WI-15672 AASD-PPT;CGI-80;DKFZp566E2346;LYS2;LYS5 4'-phosphopantetheinyl transferase;L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase;LYS5 ortholog;OTTHUMP00000232353;OTTHUMP00000232354;alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase APPROVED protein-coding ENSG00000149313 HGNC:14235 09675 607756 REVIEWED 1321929 AASS aminoadipate-semialdehyde synthase This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008] 7 7 7 q31.3 116522826 116593571 - 121713598 121784344 - 122073544 122144290 - 1300048;6480464;6907045;7240710;8554872;8699517 10567240;10775527;12477932;12690205;12853948;14702039;16344560;17314511;18029348;18976975;20186120;20467438;20811636;20877624;21890473;21906983;24778252;8125298;8889548;9847074 10157 A4D0W4;F8WAH1;F8WE53;H7C0C6;Q9UDR5 ABBA01057750;AC006020;AF229180;AJ007714;AK023446;AK225898;AK294326;AMYH02016672;BC144246;BC144247;BM669241;CH236947;CH471070;DA995180;NG_008140;NM_005763;XR_242220;XR_242221 AAF03526;AAF44328;AAI56457;AAI72503;BAG51195;BAG57598;CAA07619;EAL24343;EAW83564;EAW83565;NP_005754;Q9UDR5 Hs.156738 1655942;1669482;2164710;2169275;2176433;2186499;5014051;5022200;5037552 A004U04;D8S2278;D8S2279;GDB:6028507;L18426;RH12669;RH46945;RH66224;STS-N81025 LKR/SDH;LKRSDH;LORSDH OTTHUMP00000211399;OTTHUMP00000211400;OTTHUMP00000211402;alpha-aminoadipate semialdehyde synthase;alpha-aminoadipic semialdehyde synthase, mitochondrial;aminoadipic semialdehyde synthase;lysine-2-oxoglutarate reductase;lysine-ketoglutarate reductase /saccharopine dehydrogenase APPROVED protein-coding HGNC:17366 05489 238700;268700;605113 REVIEWED 734398 AATF apoptosis antagonizing transcription factor The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008] 17 17 17 q12 32128305 32236266 + 35306175 35414171 + 36948875 37056871 + 1580863;6480464;8554872 10580117;10783144;11027528;11790298;12376548;12429849;12450794;12477932;12787561;12847090;14627703;14697667;14702039;14761944;15207272;15231747;15489334;15635413;16189514;16565220;17006618;17081983;17157788;17468107;17488777;18029348;18049476;18341201;19454010;19471022;19834535;20025740;20211142;20532202;20708154;21139048;21145461;21252943;21693764;21890473;21906983;21963094;21987572;21988832;22505724;22586326;22678362;22751105;22797925;22909821;22933572;23000965;23251661;23798705;23801113;24250222;24778252;24816145 26574 Q9NY61 ABBA01012433;ABBA01012434;ABBA01012435;AC003103;AC023315;AC243773;AC244093;AF083208;AF161395;AJ249940;AK026173;AK057229;BC000591;CH471199;KF456270;NM_012138 AAD52016;AAF28955;AAH00591;ABM83023;ABM86216;BAG51888;CAB57451;EAW57575;NP_036270;Q9NY61 Hs.195740 1337147;1729701;2120412;2164955;2184303 A007I45;D17S1867;D17S581;G09336;WI-11337 BFR2;CHE-1;CHE1;DED apoptosis-antagonizing transcription factor;rb-binding protein Che-1 APPROVED protein-coding ENSG00000275700 HGNC:19235 12236 608463 REVIEWED 1317702 AATK apoptosis-associated tyrosine kinase The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 17 17 17 q25.3 152 5261 - 79084285 79139877 - 81117295 81166072 - 1580863;6480464 10083745;10837911;11314039;11314040;12168954;12477932;12670708;14521924;14563843;14702039;15489334;16969489;17651901;18029348;22321011;23080069;23251661;9734811 9625 H7C175;I3L360;I3L461;Q6ZMQ8 AB014541;ABBA01032123;ABBA01032124;ABBA01032125;ABBA01032126;ABBA01032127;ABBA01238725;AC115099;AK094931;AK131395;AK131529;AK309099;AMYH02034118;AMYH02034119;BC047378;BI256809;NG_029981;NM_001080395;NM_004920;XM_005257855;XM_006722193;XM_006722194;XM_006722195;XM_006722196;XM_006722197 AAH47378;BAA31616;BAD18544;BAD18667;NP_001073864;NP_004911;Q6ZMQ8;XP_005257912;XP_006722256;XP_006722257;XP_006722258;XP_006722259;XP_006722260 Hs.514575 1697596 RH102309 AATYK1;KIAA0641;LMR1;LMTK1;PPP1R77;p35BP AATYK;CDK5-binding protein;OTTHUMP00000163589;OTTHUMP00000163590;brain apoptosis-associated tyrosine kinase;lemur tyrosine kinase 1;p35-binding protein;serine/threonine-protein kinase LMTK1 APPROVED protein-coding ENSG00000181409 HGNC:21 05591 605276 REVIEWED 2304510 AATK-AS1 AATK antisense RNA 1 17 17 17 q25.3 75768565 75786300 + 79139307 79156964 + 81165507 81183164 + 12477932 388428 Q6ZT90 ABBA01032127;ABBA01032128;ABBA01032129;AC027601;AC115099;AK126811;AMYH02034119;AMYH02034120;AMYH02034121;BC140737;BC171777;CH471099;HG509540;HG509541;NR_027255 BAC86704;EAW89630 Hs.591202 FLJ44861 APPROVED ncrna ENSG00000225180 HGNC:40053 16976 VALIDATED 8549325 ABALON apoptotic BCL2L1-antisense long non-coding RNA q11.21 24992962 103021294 KC505631 INXS ncrna HGNC:49667 616018 1344732 AAVS1 adeno-associated virus integration site 1 1334463 17 S51329 HGNC:22 102699 732065 ABAT 4-aminobutyrate aminotransferase 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p13.2 8937805 9047806 + 8768444 8878432 + 8674587 8784575 + 1580863;1598516;1598518;1598520;1598522;1598524;1598531;1300048;6480464;6907045;7240710;8554872;8699517 10375453;1570022;7740056;9344635;9706369;9846053 10407778;10951220;11181995;11256614;11918424;12477932;12694932;14702039;15489334;15528998;15642443;15650327;15830322;16344560;17474147;18334916;19598235;20052547;20379614;20659789;20677014;20877624;21552517;22225676;23824909;24489884;24639526;24722188;6148708;6470007;7305280;7721088;7851425 18 H3BMJ9;H3BNQ7;H3BP74;H3BP84;H3BPW8;H3BRJ1;H3BRN4;H3BRT1;P80404;X5D8S1 AA806200;ABBA01019724;ABBA01019725;ABBA01019726;ABBA01019727;ABBA01019728;ABBA01019729;AC007224;AC012173;AF237813;AK054834;AK096146;AK290501;AK293983;AK310771;AL137454;AMYH02031407;AMYH02031408;BC008990;BC013965;BC015628;BC031413;BC075851;BG749438;BG818982;BI459888;BI602086;BX537362;CH471112;DA228305;DA300126;DA531116;DB443567;DB479117;DC335224;KJ534758;KJ535005;L32961;NG_008432;NM_000663;NM_001127448;NM_020686;S75578;U80226;XM_005255154 AAA74449;AAB38510;AAD14176;AAG09758;AAH15628;AAH31413;ABM83995;ABM87322;AHW56398;AHW56644;BAF83190;BAH11640;EAW85207;EAW85208;EAW85209;NP_000654;NP_001120920;NP_065737;P80404;XP_005255211 Hs.336768 1341841;1645545;1662951;1681237;1709566;1751779;1759389;1766877;1770246;1770248;1779416;1783436;2134110;5022651 A001T16;D11S2921;D16S3020;G19624;RH65230;RH69040;SHGC-105769;SHGC-151184;SHGC-152297;SHGC-153405;SHGC-156252;SHGC-2882;SHGC-52448;SHGC-81875 FLJ17813;FLJ30272;GABA-AT;NPD009 (S)-3-amino-2-methylpropionate transaminase;4-aminobutyrate aminotransferase, mitochondrial;4-aminobutyrate transaminase;GABA aminotransferase;GABA transaminase;GABA transferase;GABAT;OTTHUMP00000045876;gamma-amino-N-butyrate transaminase;hCG1984265 APPROVED protein-coding ENSG00000183044 HGNC:23 00661 137150;613163 REVIEWED 736157 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 78048593 78195737 - 107543283 107690527 - 104781002 104928246 - 1298630;1331525;1600654;1580863;1298571;1600951;1598532;1598533;1598534;1598547;1300323;1601092;1300233;1300234;2312576;6480464;6484679;7240710;8554872;8699517 10431236;10760292;11086027;11423537;12507911;15024730;15118671;15995177;16258026;16941710;17026988;17287470;18003760;21718801;8088782 10092505;10431237;10431238;10525055;10533863;10535983;10706591;10799318;10884428;10938021;10970803;11162594;11238261;11257260;11257261;11279031;11349008;11352567;11476961;11476965;11700048;11719471;11752403;11785958;11809185;11855831;11861672;11864601;11893753;11929608;11940086;11950847;12009425;12032171;12054535;12084722;12093886;12111371;12151852;12176027;12196520;12204794;12226704;12235128;12359250;12426219;12477932;12505994;12509412;12511593;12535741;12551894;12562845;12576507;12600718;12600975;12615681;12624133;12700893;12706378;12709788;12730295;12763760;12804586;12813037;12860256;12869555;12870173;12928428;12952980;12966036;14559902;14560020;14570867;14576201;14644402;14660648;14668333;14681836;14701812;14701824;14701850;14702039;14722086;14734645;14747463;14754908;14767869;14962947;14967052;14967823;14986172;14993242;15033469;15066991;15102890;15123239;15135251;15140889;15158913;15163665;15201080;15218032;15262183;15280376;15288432;15292375;15297675;15340333;15358117;15358760;15469992;15492319;15500734;15520867;15528463;15528481;15574409;15649702;15657615;15696473;15721294;15774904;15817453;15829498;15851589;15890646;15905177;15930518;15935359;15951431;15952113;15958302;15961705;15983222;16009332;16030523;16055210;16080812;16086925;16118212;16120575;16126721;16157450;16166555;16192269;16192270;16192271;16192272;16192273;16192274;16192275;16192276;16192277;16192278;16192279;16192281;16192282;16192283;16192284;16192285;16192286;16192287;16192288;16192289;16192290;16192291;16192292;16207713;16226177;16235041;16254209;16313984;16343503;16410457;16418537;16429166;16443932;16446539;16456089;16497665;16498633;16500904;16505586;16542392;16596262;16702602;16709568;16725228;16730733;16763159;16770077;16806233;16806540;16825673;16855366;16870193;16873719;16879828;16901265;16902247;16928680;17001213;17020879;17070530;17076584;17082211;17113061;17121837;17135302;17135600;17196163;17205124;17241464;17268197;17305370;17324514;17335784;17368464;17372331;17383594;17407076;17412755;17430597;17481640;17510466;17510946;17510949;17521614;17550732;17553166;17556657;17604270;17608096;17656736;17689273;17690481;17700364;17710129;17855807;17923263;17951323;17991739;17992631;18057374;18097620;18164264;18193043;18193044;18199144;18215356;18218626;18219093;18220685;18239666;18252847;18287097;18343215;18354102;18385134;18468402;18484747;18490524;18523221;18566305;18583707;18617649;18621447;18640393;18660489;18676680;18706283;18711208;18762171;18767813;18776170;18782226;18782758;18789440;18803945;18805791;18820007;18841006;18927311;18927546;18955690;18996286;19019193;19056482;19059534;19060906;19060911;19070858;19099922;19131637;19133158;19148283;19151332;19168441;19170196;19170766;19201410;19201688;19202195;19258317;19261092;19268428;19285487;19287193;19295162;19304534;19304576;19336370;19341173;19343046;19420105;19446537;19474452;19489872;19528336;19530967;19538231;19553242;19556522;19556721;19578796;19589783;19596329;19606474;19625176;19656776;19673941;19692168;19692220;19721717;19743957;19765707;19767535;19773416;19783654;19828131;19837407;19878569;19902402;19913121;19948975;20031551;20057170;20064972;20067955;20079340;20089670;20093111;20101560;20103810;20160193;20167577;20170916;20173014;20185793;20188211;20215580;20227257;20303467;20338636;20346718;20348106;20378541;20379614;20385819;20385826;20394740;20395597;20413849;20418488;20427018;20430392;20472936;20479131;20485864;20506155;20553836;20571217;20571754;20595220;20625316;20628086;20634891;20643408;20671065;20679960;20686565;20691829;20702810;20714348;20727372;20731376;20797885;20800056;20807164;20835684;20855565;20864672;20880529;20951680;20972250;21111593;21116278;21117950;21130966;21247457;21289254;21300560;21310416;21315358;21339300;21347282;21389634;21447678;21478209;21489276;21501700;21501868;21507939;21520210;21530801;21575609;21591583;21601208;21605865;21613373;21634116;21643759;21677398;21734188;21740892;21749932;21757691;21763656;21817095;21829447;21839797;21840005;21846716;21860089;21875686;21885853;21909109;21920460;21951852;21988832;22028339;22035022;22074701;22119192;22170052;22178419;22190032;22248050;22262807;22271762;22282358;22286219;22311493;22315319;22377775;22384526;22389325;22399527;22418575;22419126;22425645;22466164;22498566;22503545;22516753;22584245;22610793;22614118;22668585;22672264;22750655;22844345;22889411;22913458;22916037;22929031;22959828;22981231;22982414;22984509;23049088;23053993;23103472;23111454;23132909;23136402;23139370;23152888;23179156;23181436;23204179;23220274;23233737;23273975;23275468;23305686;23381994;23402987;23479619;23505323;23519696;23543682;23564066;23582768;23598720;23620136;23656756;23705956;23707398;23739547;23868939;23880356;23990020;23999864;24024966;24081377;24097068;24097981;24113149;24135019;24157307;24189493;24296892;24394674;24406162;24462860;24466114;24500716;24636347;24680682;24735204;24751522;7766993;9006906;9731541 19 B1AMI1;B1AMI2;B2RUU2;B7XCW9;O95477 AB037924;AB055982;AB208839;AB445477;ABBA01042826;ABBA01042827;ABBA01042828;ABBA01042829;ABBA01042830;ABBA01042831;AF165281;AF165286;AF165306;AF165309;AF165310;AF258627;AF275948;AF285167;AF287262;AJ012376;AJ252277;AK024328;AK027864;AL353685;AL359182;AL359846;AMYH02021384;AMYH02021385;AMYH02021386;BC034824;BC146856;BU753834;BX955241;CH471105;NG_007981;NM_005502;XM_005251773;XM_005251774;XM_005251776;XM_005251778;XM_005251780;XM_006716995 AAD49849;AAD49851;AAD49852;AAD49853;AAD49854;AAF69513;AAF86276;AAF98175;AAI46857;AAK43526;BAB07875;BAB63210;BAD92076;BAH10664;CAA10005;CAC21428;EAW58992;EAW58993;EAW58994;NP_005493;O95477;XP_005251830;XP_005251831;XP_005251833;XP_005251835;XP_005251837;XP_006717058 Hs.659274 1336833;1342226;1682704;1740053;1793292;1794628;1797232;1856173;2117264;2184763;5017955;5093832 A009X28;ABCA1;ABCA1_2173;D9S1765;D9S306;D9S53;G32950;PMC207565P1;PMC33205P1;RH70166;RH81050;STS-T64961 ABC-1;ABC1;CERP;FLJ14958;HDLDT1;MGC164864;MGC165011;TGD ATP-binding cassette sub-family A member 1;ATP-binding cassette transporter 1;ATP-binding cassette transporter A1;OTTHUMP00000021833;cholesterol efflux regulatory protein;membrane-bound APPROVED protein-coding ENSG00000165029 HGNC:29 02501 143890;205400;600046;604091 REVIEWED 1347313 ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq, Jul 2008] 17 17 17 q24 63715654 63812482 - 67144148 67240956 - 69148007 69244815 - 1580863;6480464;8554872 11435397;12477932;12821155;15489334;16094384;21145461;8894702 10349 E5RFN6;E5RFP5;H0YBL8;K7EMH5;K7ERP5;Q8WWZ4 ABBA01028948;ABBA01028949;AC005495;AK298508;AK310858;AL832004;AMYH02033879;AMYH02033880;AY028900;AY247065;AY247105;BC031026;BC051320;BC136460;BC144124;C16161;CH471099;NM_080282 AAH31026;AAH51320;AAI66667;AAK30025;AAO72160;AAO72161;BAG60714;CAD89903;EAW89077;EAW89078;NP_525021;Q8WWZ4 Hs.25377 1644404;1778298;2131940 SHGC-67596;STS-N22346;STS-R46526 EST698739 ATP-binding cassette A10;ATP-binding cassette sub-family A member 10;OTTHUMP00000227288;OTTHUMP00000227360 APPROVED protein-coding ENSG00000154263 HGNC:30 12400 612508 REVIEWED 1346566 ABCA11P ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); INTERACTS WITH formaldehyde; kojic acid 4 4 4 p16.3 360935 409700 - 419224 467998 - 425435 474209 - 6480464 12477932;14702039;16344560 79963 Q4W5N1 ABBA01019327;ABBA01019328;AC092574;AK024359;AK303674;AMYH02008553;AMYH02008554;BC040413;BC060316;BC098116;BC098259;BC098291;BC099730;BC105084;BC112069;CH471131;DA501191;KF457728;NR_002451 AAY41037;BAB14895;BAG64671;EAW82667;Q4W5N1 Hs.745030 1644404;2178602;2180166;5093954 A009Z27;G33021;RH36065;SHGC-67596 ABCA11;EST1133530;FLJ14297;FLJ57767;MGC120309;MGC120310;MGC120312;MGC132744;MGC138274 atp-binding cassette, sub-family a (abc1), member 11 APPROVED pseudo HGNC:31 08597 VALIDATED 1312110 ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 2 2 2 q34 209565986 209772883 - 215796266 216003151 - 214931542 215138428 - 1598548;6480464;7240710;8554872;8699517 12915478 10094194;11435397;12477932;12697999;14702039;15756637;15980630;16007253;16902423;17508018;17591952;17611579;17927575;17986308;19179616;19262603;19429679;20301593;20379614;20672373;20869849;21339420;21633372;21712002;21798141;22257947;22505724;23528209;23954554;24324551;8845852;8894702 26154 B3KVV3;E9PBK1;Q86UK0 ABBA01062786;ABBA01062787;ABBA01062788;AC072062;AC114780;AF418105;AK096597;AK123578;AL080207;AMYH02005739;AMYH02005740;AMYH02005741;AY033486;AY219711;BC144073;CH471063;KF510780;NG_007074;NM_015657;NM_173076;NR_103740 AAI56328;AAK54355;AAN40735;AAP21093;AAY24230;AAY24276;BAG53915;CAB45776;EAW70520;EAW70521;EAW70522;NP_056472;NP_775099;Q86UK0 Hs.134585 1751351;1753333;1916176;2107805 ABCA12_8176;REN28899;SHGC-105192;SHGC-86012 ARCI4A;ARCI4B;DKFZp434G232;FLJ41584;ICR2B;LI2 ATP-binding cassette sub-family A member 12;ATP-binding cassette transporter 12;OTTHUMP00000206681;OTTHUMP00000206683 APPROVED protein-coding ENSG00000144452 HGNC:14637 07416 242500;601277;607800 REVIEWED 1352197 ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] 7 7 7 p12.3 48310673 48789160 + 48211057 48687091 + 48171460 48647495 + 6480464;8554872 10737800;11162594;12477932;12697998;14702039;19058789;19944402;20379614;21145461;23250005;23266639;23910238 154664 F5H7B7;H0Y4D2;H7BZI9;H7C0U5;Q86UQ4 ABBA01008188;ABBA01008189;ABBA01008190;ABBA01008191;ABBA01008192;ABBA01008193;AC073424;AC073927;AC091770;AC095039;AC232300;AC232312;AF501281;AK091195;AK091270;AK126220;AK128516;AK128570;AK131360;AMYH02015669;AMYH02015670;AMYH02015671;AY204751;BC062666;BX647560;CH236955;CH471128;CV361876;FJ770081;JF913488;JF913489;JF913490;JF913491;JF913492;KF458461;KF511036;NG_012385;NM_152701 AAO59914;AAP13576;AFH89038;AFH89039;AFH89040;AFH89041;AFH89042;BAC03623;BAC86492;BAC87475;CAI46091;EAW60990;EAW60991;EAW60992;NP_689914;Q86UQ4 Hs.226568;Hs.745575 1339425;1644749;1675011;1722343;1726659;1778398;1786312;1790589;1790591;1790705;2107807;2134952;2144117;2152762;2181084;5014051;5015619;5037552 ABCA13_8175;D11S3114;D7S1570;D7S1793;D7S2367;D7S2712;D8S2278;D8S2279;G17169;G35361;G60240;G62564;GDB:1318480;GDB:1318535;HSC213_(7Gr478mb);HSC214_(7Gr48mb);HSC221_(Gap_322);SHGC-154751 DKFZp313D2411;FLJ16398;FLJ33876;FLJ33951 ATP binding cassette transporter A13;ATP-binding cassette sub-family A member 13;ATP-binding cassette sub-family A member 13 variant 2;ATP-binding cassette sub-family A member 13 variant 3;OTTHUMP00000208774 APPROVED protein-coding ENSG00000179869 HGNC:14638 07422 607807 REVIEWED 2298742 ABCA17P ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene INTERACTS WITH benzo[a]pyrene (ortholog); pirinixic acid (ortholog) 16 16 16 p13.3 2605352 2690909 + 2390923 2476700 + 2340922 2426699 + 6480464 14702039;16968533;18405356;20210993 650655 ABBA01030258;ABBA01030259;ABBA01030260;ABBA01030261;AC106820;AK095200;AMYH02031251;AMYH02031252;BC042853;DQ266102;DQ660314;NR_003574 Hs.376281 1336622;1732177 D16S3124;D16S663 ABCA17;FLJ37881 APPROVED pseudo ENSG00000238098 HGNC:32972 PROVISIONAL 732200 ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34 110414121 110431191 - 139901686 139923374 - 137007234 137028922 - 1298630;1580863;6480464;8554872 8088782 10470851;10639163;10970803;11178988;11309290;12107413;12363033;12421765;12477932;12560508;15093135;15155565;15203218;15238223;1538749;15491607;15649702;15850583;15999530;16344560;16752360;17081983;18336955;19343046;19913121;19946888;20167577;20628086;20704561;21041019;21072184;21078624;21707071;21906983;21963094;22086926;24145140;7766993 20 E7EU84;E9PGB2;F8WBD2;H0Y8C9;H0Y8D6;H0Y8E3;H7C5M6;J3QSS3;Q5SPZ6;Q9BZC7 AB028985;AB177854;ABBA01022736;ABBA01022737;AF178941;AF327657;AF327658;AF327659;AF327660;AF327661;AF327662;AF327663;AF327664;AF327665;AF327666;AF327667;AF327668;AF327669;AF327670;AF327671;AF327672;AF327673;AF327674;AF327675;AF327676;AF327677;AF327678;AF327679;AF327680;AF327681;AF327682;AF327683;AF327684;AF327685;AF327686;AF327687;AF327688;AF327689;AF327690;AF327691;AF327692;AF327693;AF327694;AF327695;AF327696;AF327697;AF327698;AF327699;AF327700;AF327701;AF327702;AF327703;AF327704;AF327705;AK295489;AK308738;AL162060;AL525193;AL807752;AL833967;AMYH02021915;AMYH02021916;AMYH02021917;AMYH02021918;AMYH02021919;BC008755;BC029282;BC064542;BC090860;BC109244;BC144588;BC144589;BE273611;BF516223;BF983101;BI195329;BM314339;BM474929;BM921242;BM921499;CD612070;CD676110;CH471090;DB168116;JF279959;KF458947;NG_011789;NM_001606;NM_212533;U18235;U18236;XM_006716996 AAA84436;AAA84437;AAG09372;AAH08755;AAH64542;AAI09245;AAI72448;AAK14334;AAK14335;BAA83014;BAD66832;BAG58411;CAB82398;EAW88331;EAW88332;EAW88333;NP_001597;NP_997698;Q9BZC7;XP_006717059 Hs.421202 1697026;2163150;5106563;5108420;5492641 D11S949E;RH101989;RH71205;STS-X78031;UniSTS:481875 ABC2;MGC129761 ATP-binding cassette 2;ATP-binding cassette sub-family A member 2;ATP-binding cassette transporter 2;ATP-binding cassette, sub-family A, member 2;OTTHUMP00000022644;OTTHUMP00000022649 APPROVED protein-coding ENSG00000107331 HGNC:32 08967 600047 REVIEWED 1316207 ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2540308 2605176 - 2325879 2390747 - 2275878 2340746 - 1580863;1549859;6480464;7240710;8554872;8699517 15985750 11718719;11940594;12477932;15044640;15465012;15531465;15976379;16344560;16415354;16857811;16959783;16968533;17429902;17574245;17597647;17660803;18024538;18246475;18317237;18463677;18603241;19220077;19252731;19343046;19861431;19902402;20304423;20371530;20656946;20863830;21139048;21165348;21214890;21526180;21586796;21873242;21890473;22068586;22145626;22337229;22434821;22455634;22800827;22866751;23166334;23432194;23443156;24142515;24145140;24250222;24269975;24628317;24657120;24730976;24871971;8706931;9027511 21 H0Y3H2;Q4LE27;Q99758 AB070929;AB210044;ABBA01030263;ABBA01030264;ABBA01030265;ABBA01030266;AC005212;AC007162;AC009065;AC098805;AC106820;AK310864;AMYH02031249;AMYH02031250;AMYH02031251;BC020724;BC035752;BC062779;BC140895;BC146866;BC151840;BP397501;CH471112;DA109409;DQ073080;NG_011790;NM_001089;U78735;X97187 AAC50967;AAH20724;AAH62779;AAI40896;AAI46867;AAI51841;AAY57325;BAB86781;BAE06126;CAA65825;EAW85515;NP_001080;Q99758 Hs.26630 1732175;1732179;1795256;2151165;5023509;5024543 ABCA3_193;D16S291;D16S662;D16S664;D1S3690;SHGC-61174 ABC-C;ABC3;EST111653;LBM180;MGC166979;MGC72201;SMDP3 ABC transporter 3;ABC-C transporter;ATP-binding cassette sub-family A member 3;ATP-binding cassette transporter 3;OTTHUMP00000159065 APPROVED protein-coding ENSG00000167972 HGNC:33 03369 601615;610921 REVIEWED 1300038 ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 17 17 17 q24.3 63812102 63894875 - 67240576 67323323 - 69244435 69327182 - 1580863;1549860;6480464;8554872 16162093 11435397;11572484;12477932;12504089;14702039;15870284;16344560;17289887;17541169;18676680;19170196;19343046;19625176;19692168;20487690;21988832;22190034;22870217;23939407;8894702 23461 K7EJW6;K7EKS9;K7EMV2;K7ENF9;K7EPM3;K7EQ50;Q6N017;Q8WWZ7 AB067475;ABBA01028947;ABBA01028948;AC005495;AC115085;AJ275973;AJ512612;AK056533;AK058170;AK094416;AK096664;AK122803;AK292592;AMYH02033880;AMYH02033881;AMYH02033882;AY028897;BC029426;BC054480;BC070126;BC146819;BF448717;BX640746;BX647447;BX648540;CH471099;DB096625;KF456324;NG_034199;NM_018672;NM_172232 AAH29426;AAI56257;AAK30022;BAB67781;BAB71208;BAB71700;BAF85281;CAB93535;CAD54757;CAE45856;EAW89080;EAW89081;EAW89082;EAW89083;NP_061142;NP_758424;Q8WWZ7 Hs.731824 1716595;1770125;1797236;2132354;5015861;5020948;5022322;5022588;7185938 ABCA5_2603;D10S16;D11S2560;D5S1597E;G35510;RH121643;RH12485;STS-W32872 ABC13;DKFZp451F117;DKFZp779N2435;EST90625;FLJ16381 ATP-binding cassette A5;ATP-binding cassette sub-family A member 5 APPROVED protein-coding ENSG00000154265 HGNC:35 09789 612503 REVIEWED 1319792 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008] 1 1 1 p22 92712080 92840399 - 94458393 94586705 - 93992837 94121149 - 1580863;1598551;1598552;6480464;6893650;7240710;7829716;7829711;7815046;7829710;8547535;7815045;7829712;8547536;7829713;8554872;8699517 16546111;18024811;18463687;19553623;20212494;21447403;22328824;22661473;23701314;24342785;9295268;9466990 10075733;10090887;10206579;10466724;10612508;10634594;10711710;10746567;10767284;10880298;10958761;10958763;11017087;11320094;11328725;11346402;11379881;11384574;11385708;11444963;11527935;11594993;11726554;11919200;11973624;12111378;12202497;12442277;12515255;12592048;12673275;12754711;12796258;12824224;12888572;15017103;15223829;15375613;15494742;15947798;16303926;16533065;16604398;16681420;16917483;17286855;17325136;17724221;17932850;17982420;17997789;18214793;18285826;18334942;18506364;18523590;18649358;18854780;18977788;19015224;19028736;19056738;19074458;19217903;19265867;19343046;19352439;19365039;19365591;19430638;19578016;19625466;19913121;19948975;19959634;20029649;20128570;20163366;20301590;20335603;20379614;20404325;20436469;20591486;20628086;20647261;20661590;20696155;20711710;20801516;21330655;21502573;21510770;21546767;21567910;21721517;21786275;21834038;21911583;22060670;22220722;22229821;22247458;22312191;22395892;22427542;22449572;22589445;22706241;22753311;22863734;22948568;23096905;23143460;23144455;23167473;23362303;23419329;23443024;23512105;23755510;23755871;23769331;23882696;23918662;23940504;23949494;23953153;23982839;24011517;24097981;24265018;24397708;24453473;24457364;24664696;24713488;8889548;8894702;9054934;9070931;9202155;9288089;9288113;9425888;9490294;9503029;9666097;9703434;9781034;9973280 24 B4DWY6;P78363;Q6AI28 AB210040;ABBA01045515;ABBA01045516;ABBA01045517;AC093579;AC105278;AF000148;AF001945;AF533020;AK295818;AK296896;AK301733;AK301764;AK310492;AL712362;AMYH02001506;BM686882;CH471097;CR627391;DQ426859;NG_009073;NM_000350;U66691;U88667;Y15635 AAC05632;AAC23915;AAC51144;AAI72262;AAI72565;AAP33155;ABD90529;BAE06122;BAG58635;BAG63198;BAG63224;BAH12450;CAA75729;CAH10486;EAW73056;EAW73057;EAW73058;NP_000341;P78363 Hs.416707 1653635;1654063;1695752;1705764;1714633;1781484;1797234;2166937;2177983;2180259 ABCA4_2633;AL009647;RH119981;SHGC-132421;SHGC-31244;SHGC-31368;SHGC-31446;SHGC-82674;SHGC-83480;WI-22788 ABC10;ABCR;ARMD2;CORD3;DKFZp781N1972;FFM;FLJ17534;RMP;RP19;STGD;STGD1 ATP binding cassette transporter;ATP-binding cassette sub-family A member 4;ATP-binding cassette transporter, retinal-specific;ATP-binding transporter, retina-specific;OTTHUMP00000012366;RIM ABC transporter;RIM protein;photoreceptor rim protein;retina-specific ABC transporter;retinal-specific ATP-binding cassette transporter;stargardt disease protein APPROVED protein-coding ENSG00000198691 HGNC:34 03408 153800;248200;601691;601718;604116 REVIEWED 1601775 ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 970935 998554 + 1040102 1065571 + 1040103 1065572 + 6480464;8554872 10873640;11054552;11095984;11355874;11435699;12111378;12917409;12925201;14570867;14592415;14702039;15203218;15593299;15930518;16908670;18029348;18676680;19170196;19343046;19625176;19692168;19721717;19913121;20628086;20855565;21173549;21460840;21460841;21906983;23324282;23571587;23669301;24064683;24097981;24141082;24162737;8889548 10347 B3KUJ3;E9PKG5;E9PL63;H0YCN5;H0YF58;Q8IZY2 AB055390;ABBA01002618;ABBA01002619;AC011558;AF140342;AF250238;AF311057;AF311058;AF311059;AF311060;AF311061;AF311062;AF311063;AF311064;AF311065;AF311066;AF311067;AF311068;AF311069;AF311070;AF311071;AF311072;AF311073;AF311074;AF311075;AF311076;AF311077;AF311078;AF311079;AF311080;AF311081;AF311082;AF311083;AF311084;AF311085;AF311086;AF311087;AF311088;AF311089;AF311090;AF311091;AF311092;AF311093;AF311094;AF311095;AF311096;AF311097;AF311098;AF311099;AF311100;AF311101;AF311102;AF328787;AK097344;AK301108;AK310127;AK310909;AL137481;AMYH02035131;AMYH02035132;BU675136;CD629701;CH471139;DC405492;NM_019112;XM_006722616;XM_006722617;XM_006722618;XR_430126 AAF06727;AAF85794;AAI72426;AAK00959;AAN04657;BAB62294;BAG53455;BAG62707;CAB70762;EAW69556;EAW69557;EAW69558;EAW69559;EAW69560;EAW69561;EAW69562;EAW69563;EAW69564;NP_061985;Q8IZY2;XP_006722679;XP_006722680;XP_006722681 Hs.134514 1771802;2107945;2216966;5014053 ABCA7_2692;CNN2_8268;D1S3693;RH70510 ABCA-SSN;ABCX;FLJ40025 ATP-binding cassette sub-family A member 7;OTTHUMP00000236146;autoantigen SS-N;macrophage ABC transporter APPROVED protein-coding ENSG00000064687 HGNC:37 09255 605414 REVIEWED 1319094 ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008] 17 17 17 q24.3 63646675 63709544 - 67074847 67138015 - 69078691 69143262 - 1580863;6480464;8554872 10639163;11435397;11478798;12477932;14702039;15174051;15489334;18676680;19170196;19343046;19625176;19692168;20379614;24028821;8894702 23460 Q8N139 ABBA01028949;ABBA01028950;AC005495;AC005922;AF373290;AF373328;AK097296;AK125487;AK308431;AMYH02033878;AMYH02033879;AY028898;BC029852;BC070125;BC125231;BC125232;NM_080284;U66680;XM_006721790;XM_006721791;XM_006721792;XM_006721793;XR_429879 AAH70125;AAI25232;AAI25233;AAI66682;AAK30023;AAM77557;AAM77558;BAC04994;BAG54204;NP_525023;Q8N139;XP_006721853;XP_006721854;XP_006721855;XP_006721856 Hs.709514 1335934;1723039;2216964;5037552;7186385 ABCA6_3032;D17S940;D8S2279;G60470 EST155051;FLJ43498 ABC transporter ABCA6;ATP-binding cassette A6;ATP-binding cassette sub-family A member 6 APPROVED protein-coding ENSG00000154262 HGNC:36 10622 612504 REVIEWED 1316041 ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 17 17 17 q24 63435265 63523392 - 66863428 66951550 - 68867287 68955404 - 1580863;6480464;8554872 10048485;11329013;12111378;12379217;12477932;14702039;15489334;16738483;17973979;19343046;19922823;20686565;21707071;23560799;23948991;24097068;24219920;8889548 10351 K7ELK9;O94911 AA448212;AB020629;ABBA01028951;ABBA01028952;AC005922;AC015844;AK090894;AK295876;AK304286;AK304360;AMYH02033877;AW590229;BC010392;BC024003;BC037309;BC047765;BC094689;BC130280;BC143971;BC143972;BG210966;BM665457;BM707283;CH471099;CK824290;NM_001288985;NM_001288986;NM_007168;XM_005256938;XM_005256940;XR_243626 AAH24003;AAH37309;AAH47765;AAH94689;AAI30281;BAA74845;BAG58673;BAG65144;BAG65201;EAW89068;EAW89069;NP_001275914;NP_001275915;NP_009099;O94911;XP_005256995;XP_005256997 Hs.58351 1700728;1709104;1713233;1760079;1795258;1797238;2115867;2170235;5014051 ABCA8_1040;ABCA8_2250;D8S2278;RH103989;RH120606;RH46167;RH78733;SHGC-107731;SHGC-85710 KIAA0822;MGC163152 ATP-binding cassette sub-family A member 8 APPROVED protein-coding ENSG00000141338 HGNC:38 09790 612505 REVIEWED 1314254 ABCA9 ATP-binding cassette, sub-family A (ABC1), member 9 This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 63542632 63628962 - 66970773 67058442 - 68974632 69062296 - 1580863;6480464;8554872 11435397;12150964;12477932;14702039;15489334;20877624;8889549;8894702 10350 H0Y4U7;K7EJJ0;Q8IUA7 ABBA01028950;ABBA01028951;AC005922;AF423307;AF423308;AF423309;AF423310;AF423311;AF423312;AF423313;AF423314;AF423315;AF423316;AF423317;AF423318;AF423320;AF423321;AF423322;AF423323;AF423324;AF423325;AF423326;AF423327;AF423328;AF423329;AF423330;AF423331;AF423332;AF423333;AF423334;AF423335;AF423336;AF423337;AF423338;AF423339;AF423340;AF423341;AF423342;AF423343;AF423344;AF423345;AF423346;AK057068;AK074491;AK122687;AL833712;AMYH02033878;AW130042;AY028899;BC062472;BU072174;BU076154;CH471099;CR627382;NM_080283;W84726;XM_005256934;XM_005256935;XM_005256936;XM_005256937;XM_006721633;XM_006721634 AAH62472;AAI67781;AAK30024;AAN32751;AAN32752;BAB71359;BAC11021;CAH10479;EAW89071;EAW89072;EAW89073;EAW89074;NP_525022;Q8IUA7;XP_005256991;XP_005256992;XP_005256993;XP_005256994;XP_006721696;XP_006721697 Hs.131686 1669722;1672695;1698692;1736632;2115867 D17S1474E;RH102906;RH46167;RH48279;SHGC-63484 DKFZp686F2450;EST640918;MGC75415 ATP-binding cassette A9;ATP-binding cassette sub-family A member 9;OTTHUMP00000179122;OTTHUMP00000179123 APPROVED protein-coding ENSG00000154258 HGNC:39 12401 612507 REVIEWED 1322567 ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 202920623 202962354 - 229652329 229694442 - 229516582 229558695 - 1580863;6480464 10748049;10922475;11829140;12477932;15215243;15252450;19151771;19322201;19343046;20877624;21139048;21890473;22085049;22190034;22939629;23620142;23716676;23720443;24250222;24816145;7766993 23456 Q9BXW0;Q9NRK6 AB013380;ABBA01009824;ABBA01009825;AF216833;AF277184;AK172794;AL121990;AMYH02002871;AMYH02002872;BC064930;CH471098;DQ786241;NM_012089;U18237;XM_006711754;XM_006711755 AAA84438;AAF78198;AAH64930;AAK07543;BAB20265;BAD18770;EAW69901;NP_036221;Q9NRK6;XP_006711817;XP_006711818 Hs.17614 1669780;1689041;1795260;1797240;2120038;5111474 A007G40;ABCB10_1042;ABCB10_2563;RH64714;RH99044;SHGC-33783 EST20237;M-ABC2;MTABC2 ABC transporter 10 protein;ATP-binding cassette sub-family B member 10, mitochondrial;ATP-binding cassette transporter 10;OTTHUMP00000037475;mitochondrial ATP-binding cassette 2 APPROVED protein-coding ENSG00000135776 HGNC:41 09263 605454 REVIEWED 730823 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. [provided by RefSeq, Jul 2008] 7 7 7 q21.12 81837832 82047176 - 87133179 87342639 - 87503863 87713323 - 1598554;1580863;1598562;1598563;1598564;1358367;1598559;1598568;1598560;1358366;2315557;2315573;2315550;2312331;2312343;2315559;2315560;2315562;2315549;2315553;2315556;2316977;4890020;4890033;5130188;5135288;6480464;6484113;6907361;6907045;7240710;2301067;7364967;8657092;8657333;8699517;8657083;1342430;8657089;8657073;8657143;8657097;8554872;8657074;8657076;8657087;8657095;8657121 10725273;11888090;12089380;12154027;12423380;12615699;12686700;12746221;15049514;15380564;15505619;16107775;16574265;16619498;16790532;16928449;17074306;17135344;17177989;17353665;17891478;18756548;19152228;19323616;19470683;19484671;19603017;19654309;19733976;19752884;19879256;21148080;21685928;21788941;22170007;22223515;22674224;22705826;24040855;24717943;9713510 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5243 A4D1D2;E7EWT8;P08183 AA776371;AB208970;ABBA01045865;ABBA01045866;ABBA01045867;ABBA01045868;AC002457;AC005068;AF016534;AF016535;AF345625;AK290159;AK308467;AMYH02016216;AMYH02016217;AMYH02016218;AMYH02016219;AMYH02016220;AY425005;AY425006;AY425007;AY910577;BC130424;BQ720763;BQ882401;BX509020;CB164676;CH236949;CH471091;EU852583;EU854148;HQ291612;M14758;M29422;M29423;M29424;M29425;M29426;M29427;M29428;M29429;M29430;M29431;M29432;M29433;M29434;M29435;M29436;M29437;M29438;M29439;M29440;M29441;M29442;M29443;M29444;M29445;M29446;M29447;M37724;M37725;NG_011513;NM_000927;X58723 AAA59575;AAA59576;AAA88047;AAA88048;AAB69423;AAB70218;AAI30425;AAM49149;AAR83914;AAR91621;AAR91622;AAW82430;ACF94687;ACF94688;AEC13147;BAD92207;BAF82848;CAA41558;CAL38230;EAL24173;EAW76940;EAW76941;EAW76942;EAW76943;NP_000918;P08183 Hs.489033;Hs.737655 1648772;1651499;1704274;1722515;1742285;1776871;1786320;1797242;2138924;2160534;2176440;2177344;2185668 ABCB1_2602;D7S2326;D7S2414;G60182;GDB:1317232;GDB:1317328;GDB:194851;GDB:6028578;PGY1;RH17678;SHGC-154970;SHGC-56130;SHGC-83275 ABC20;CD243;CLCS;GP170;MDR1;MGC163296;P-GP;PGY1 ATP-binding cassette sub-family B member 1;ATP-binding cassette, subfamily B, member 1;OTTHUMP00000205790;P-glycoprotein 1;colchicin sensitivity;doxorubicin resistance;multidrug resistance protein 1 APPROVED protein-coding ENSG00000085563 HGNC:40 01370 120080;171050;612244 REVIEWED 1345233 ABCB10P1 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1 15 15 15 q11.2 3453 3690 - 22689409 22693186 - 23179882 23183659 + 10922475;7766993 56476 ABBA01210948;AC116165;AF218417;AMYH02030022;NG_005041 ABCB10P;ABCB10P2;M-ABC2;MABC2 pseudo HGNC:14114 INFERRED 3516544 ABCB10P3 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 3 15 15 q13.1 28648011 28650177 + 28402865 28405031 + 728248 AC091304;AC138747;AC243660;NG_022122 pseudo HGNC:31129 INFERRED 3418289 ABCB10P4 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 4 15 15 q13.1 28751773 28753939 - 28506627 28508793 - 100132289 AC138749;AC243913;NG_022102 pseudo HGNC:31130 INFERRED 736946 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008] 7 7 7 q21.1 81736239 81809903 - 87031361 87105019 - 87402045 87475703 - 1598588;1598589;1300324;1300325;1358123;6480464;6907045;7240710;8554872;8699517 11680581;12055592;12433976;8106172;9419367 10767346;11313316;11745043;12206920;12381474;12388190;12477932;12690205;12746424;12853948;12891548;14527955;14999697;15077010;15159385;15258199;16696816;16763017;16854530;16857572;16890614;16891356;17187437;17264802;17523162;17562004;17726488;17786139;18083082;18231753;18482588;18660489;18671305;18781607;19018976;19185004;19261551;19266607;19343046;19408031;19467940;19584064;19593667;19794400;19840247;19913121;19998509;2002063;20163776;20414253;20422496;20453000;20628086;20683201;20855565;21072184;21119540;21161147;21638239;21705081;21988832;21989363;22098322;22184139;22331132;22343912;22387667;22982378;23022423;23261441;23468132;23574360;24122873;24140176;24366234;24723470;24806754;25029804;2892668;2906314;3477522;7734012;7893760;7912266;7912658;8898203;9542318;9923886 5244 E7EQI1;H7C0M2;P21439 ABBA01045868;AC005045;AC005068;AC006154;AMYH02016216;BC020618;BC042531;CH236949;CH471091;EF034088;KF458496;M23234;NG_007118;NM_000443;NM_018849;NM_018850;X06181;Z35284;Z35286 AAA36207;AAD05023;AAH20618;AAH42531;ABJ53424;CAA29547;CAA84542;CAA84543;EAL24174;EAL24175;EAL24176;EAW76944;EAW76945;EAW76946;EAW76947;EAW76948;EAW76949;EAW76950;EAW76951;EAW76952;NP_000434;NP_061337;NP_061338;P21439 Hs.654403 1651499;1706842;1735706;1772344;1772346;1847953;2131050;2131052 A005R35;A006B20;D7S2163E;G20448;G20675;PGY3;RH17678;SHGC-80903 ABC21;GBD1;ICP3;MDR2;MDR2/3;MDR3;PFIC-3;PGY3 ATP-binding cassette sub-family B member 4;OTTHUMP00000161613;OTTHUMP00000206137;OTTHUMP00000210458;P glycoprotein 3/multiple drug resistance 3;P-glycoprotein 3;P-glycoprotein-3/multiple drug resistance-3;multidrug resistance protein 3;multiple drug resistance 3 APPROVED protein-coding ENSG00000005471 HGNC:45 01371 147480;171060;600803;602347;614972 REVIEWED 730944 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008] 2 2 2 q24 163404770 163513162 - 169779336 169887833 - 168922826 169031323 - 1580863;1598583;1598580;1598571;1598596;625722;2316977;1598579;6480464;6907045;7240710;8554872;8699517 12135489;12702498;15853769;15901796;17353665;9806540;9828229 10579978;11172067;11495894;11600213;11745042;11783115;11815775;11829140;12825874;14762791;14999697;15077010;15159385;15300568;15471871;15791618;16039748;16290310;16749857;16763017;16871584;16890614;16941683;17264802;17622941;18176959;18270374;18395098;18521185;18660489;18668439;18676680;18692205;18987030;19056867;19060910;19101985;19170196;19343046;19408031;19571440;19625176;19669124;19692168;19821532;19833092;19845854;19888660;19898482;19913121;19937311;20010382;20028269;20147439;20163776;20232290;20301474;20379614;20414253;20447715;20453000;20628086;20683201;20702406;20723035;20855565;20857261;20858683;20883210;21139048;21386085;21490445;21691112;21766090;21811948;21909109;21988832;22001757;22098322;22161577;22262466;22673116;22681771;23022423;23279303;23701583;23750872;23758865;23876151;23929842;24002920;24058526;24097068;24335466;24366234;24378332;24711118;9545351 8647 H7C486;O95342 AB012959;ABBA01004960;ABBA01004961;AC008177;AC069137;AC093723;AF091582;AF136523;AK302540;AK303050;AMYH02005174;AMYH02005175;CH471058;CS016617;CS016619;NG_007374;NM_003742;XM_006712817;XM_006712818 AAC77455;AAD28285;AAY24100;AAY24305;BAA88711;BAG63812;BAG64170;CAI54162;CAI54163;EAX11285;EAX11286;EAX11287;NP_003733;O95342;XP_006712880;XP_006712881 Hs.658439 1646882;1706866;1715589;1795262;2121616;2191485 ABCB11_675;D2S2060;MARC_23799-23800:1027535309:1;RH120938;RH66728;SHGC-80916 ABC16;BRIC2;BSEP;PFIC-2;PFIC2;PGY4;SPGP ABC member 16, MDR/TAP subfamily;ATP-binding cassette sub-family B member 11;OTTHUMP00000204927;bile salt export pump;progressive familial intrahepatic cholestasis 2;sister p-glycoprotein APPROVED protein-coding ENSG00000073734 HGNC:42 04436 601847;603201;605479 REVIEWED 731735 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008] 2 2 2 q36 213844200 213853379 - 220074488 220083712 - 219209766 219218990 - 1580863;1300326;6480464;8699517;7240710;8554872 10837493 11955620;11977179;12477932;14702039;15489334;16791740;17006453;17661442;18279659;18624398;19056867;19343046;20823549;20877624;20972266;21139048;21199866;21849266;21890473;21903422;21906983;21963094;21987572;22226084;22246506;22655043;22688660;22761424;22939629;22958180;23180570;23483087;23519333;23763549;23792964;23793916;24192121;24224009;24456066;24457600;24816145;8619474;8894702;9110174;9288777 10058 H7BXK9;H7C049;H7C1R6;H7C245;H7C3Z0;Q9NP58 AB039371;ABBA01023847;AC068946;AF070598;AF076775;AF308472;AF308473;AJ289233;AK026067;AK057026;AK172812;AK303230;AL560811;AMYH02005819;AW664349;BC000559;BC043423;CH471063;NG_032110;NM_005689;U66673 AAC28653;AAF75107;AAG33617;AAG33618;AAH00559;AAH43423;ABM82802;ABM85989;BAA96733;BAB71347;BAD18782;BAG64317;CAB95766;EAW70694;EAW70695;EAW70696;EAW70697;EAW70698;EAW70699;EAW70700;EAW70701;EAW70702;EAW70703;EAW70704;EAW70705;NP_005680;Q9NP58 Hs.107911 1651365;1674240;1699648;1712709;1850441;1856492;2123571;2154297 A002Q44;D2S2921;RH103428;RH121051;RH18248;RH68357;WI-19704;WI-20003 ABC;ABC14;DUH3;EST45597;FLJ22414;LAN;MCOPCB7;MTABC3;PRP;umat ATP-binding cassette half-transporter;ATP-binding cassette sub-family B member 6, mitochondrial;OTTHUMP00000164171;OTTHUMP00000206108;P-glycoprotein-related protein;mitochondrial ABC transporter 3;mt-ABC transporter 3;ubiquitously-expressed mammalian ABC half transporter APPROVED protein-coding ENSG00000115657 HGNC:47 09261 111600;605452;614497;615402 REVIEWED 1351002 ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] 7 7 7 p21.1 20639480 20782083 + 20655245 20796637 + 20615622 20757014 + 6480464;8554872 12477932;12690205;12960149;15205344;15488952;15489334;15760339;15899824;17661346;18202660;19477512;20068175;20339536;20682318;20729912;20950786;21212411;21298007;21652540;22044138;22306008;22393060;22555176;22784549;22865455;23259602;23535732;23770371;24300535;24324551;24804815;25030174;8894702;9542318 340273 H7C165;Q2M3G0 AB353947;ABBA01056675;ABBA01056676;AC002486;AC005060;AF319622;AF399931;AI334015;AK127141;AL040763;AMYH02015333;AMYH02015334;AMYH02015335;AMYH02015336;AMYH02015337;AMYH02015338;AY090613;AY230001;AY234788;AY785909;AY851364;AY851365;BC044248;BC104894;BC104920;BC110370;BM471690;BX452500;BX537763;CH236948;CH471073;GU437216;GU437217;H99394;KF454880;KF458397;KF458398;KF458399;KF458400;NM_001163941;NM_001163942;NM_001163993;NM_178559;XM_006715722 AAI04895;AAI04921;AAM09027;AAN76500;AAO73470;AAP55848;AAQ03033;AAW31629;AAW31630;AAX11382;ADV32636;ADV32637;BAF75364;EAL24273;EAL24274;EAW93726;EAW93727;NP_001157413;NP_001157414;NP_001157465;NP_848654;Q2M3G0;XP_006715785 Hs.404102 1335436;1357237;1644523;1644641;1661812;1662580;1663799;1696020;1696840;1698562;1700314;1707262;1752745;2133396;2134029;2138910;5015619;5015861;5024039;5037552;5109281;7185938 D10S16;D11S3114;D16S325;D1S1425;D7S1802;D7S2210;D8S2279;G49164;GDB:1317506;GDB:1318030;RH102833;RH103777;RH68947;RH78896;RH78897;SHGC-106581;SHGC-53299;SHGC-79232;SHGC-83158;STS-H98780;STS-N32998 ABCB5alpha;ABCB5beta;EST422562 ABCB5 P-gp;ATP-binding cassette protein;ATP-binding cassette sub-family B member 5;OTTHUMP00000120018;OTTHUMP00000201813;OTTHUMP00000201814;OTTHUMP00000201940;P-glycoprotein ABCB5 APPROVED protein-coding ENSG00000004846 HGNC:46 611785 VALIDATED 1351480 ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012] X X X q13.3 74556536 74659552 - 74273007 74376175 - 75053172 75156340 - 1298634;1598600;1580863;6480464;7240710;8554872;8699517 10196363;9143506 11042152;11050011;11843825;12477932;12480705;14702039;15146197;15342556;15489334;15772651;17006453;18029348;18398482;19343046;20186120;20301496;21139048;21380928;21726808;21832049;21987572;22398176;22939629;23070040;24816145;8894702;9621516;9883897 22 B4DGL8;E9PJR8;E9PNQ5;O75027;Q7Z3K5 ABBA01059486;ABBA01059487;ABBA01059488;ABBA01059489;ABBA01059490;ABBA01059491;ABBA01059492;ABBA01059493;ABBA01059494;ABBA01059495;ABBA01059496;ABBA01059497;AF038950;AF078777;AF133659;AF241887;AK001418;AK294657;AK307414;AL359545;AL360179;AL590232;AMYH02039785;AMYH02039786;BC006323;BG722908;BP228998;BQ630948;BT009918;BX537833;CH471104;CN411218;NG_007980;NM_001271696;NM_001271697;NM_001271698;NM_001271699;NM_004299;U66679 AAC39865;AAD33045;AAD47141;AAH06323;AAK20173;AAP88920;ABM81618;ABW03277;BAG50910;BAG57829;CAD97847;EAW98632;EAW98633;EAW98634;EAW98635;EAW98636;EAW98637;NP_001258625;NP_001258626;NP_001258627;NP_001258628;NP_004290;O75027 Hs.370480 1698120;1702556;2171462;2216968 ABCB7_2717;RH102593;UniSTS:99415;WI-11286 ABC7;ASAT;Atm1p;EST140535 ABC transporter 7 protein;ATP-binding cassette 7;ATP-binding cassette sub-family B member 7, mitochondrial;ATP-binding cassette transporter 7;OTTHUMP00000023578;OTTHUMP00000023579;OTTHUMP00000235628;OTTHUMP00000235673 APPROVED protein-coding ENSG00000131269 HGNC:48 02137 300135;301310 REVIEWED 1316973 ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8 This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 7 7 7 q36 145282807 145302178 + 150725510 150744869 + 151028422 151047782 + 1580863;6480464;8554872 11829140;12477932;14702039;14973057;15284438;16169070;16259955;16344560;18029348;19147539;19151771;19248758;19343046;19913121;20379614;20628086;20877624;21046154;21906983;21963094;22375032;22939629;23182705;23512405;8125298;8894702;9878413 11194 C9JA03;C9JTY4;C9JYI3;F2Z2Z1;F2Z3G8;F8WC43;H7C5K9;Q9NUT2 ABBA01035167;AC010973;AF047690;AF086382;AK002018;AK024401;AK094005;AK094636;AK126885;AK128129;AK222911;AK294344;AK310796;AK314721;AL117497;AMYH02017067;BC130036;BC141814;BC141836;BC151235;CH471173;DA147595;DB540313;HY000407;NM_001282291;NM_001282292;NM_001282293;NM_007188;U66688 AAD15748;AAI41815;AAI41837;AAI43081;AAI46830;AAI51236;BAA92038;BAC04392;BAD96631;BAG37265;BAG51294;BAG52795;BAG57613;EAW54056;EAW54057;EAW54058;EAW54059;EAW54060;EAW54061;EAW54062;EAW54063;EAW54064;EAW54065;EAW54066;NP_001269220;NP_001269221;NP_001269222;NP_009119;Q9NUT2 Hs.647118 1853377;2144630;2147356;2191161;5015619;5022578;5024039;5037552;5113208 D11S3114;D16S325;D1S1423;D7S1964;D8S2279;GDB:4585109;MARC_15633-15634:1017248647:1;RH92393;SHGC-34711 EST328128;M-ABC1;MABC1 ATP-binding cassette sub-family B member 8, mitochondrial;OTTHUMP00000213259;OTTHUMP00000213261;OTTHUMP00000213264;mitochondrial ABC protein;mitochondrial ATP-binding cassette 1 APPROVED protein-coding ENSG00000197150 HGNC:49 10400 605464 REVIEWED 733003 ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities. [provided by RefSeq, Jul 2011] 12 12 12 q24 123006335 123052545 - 123405498 123451056 - 122920178 122966509 - 1580863;6480464 10748049;10819331;11011155;11829140;12477932;13679046;14702039;15302935;15489334;15491607;15518576;15577206;15863492;16344560;16525794;16554024;17977821;18175933;18434309;18952056;19343046;20377823;21194361;21212514;21507922;21906983;22641697;23382691;23974872;24013930;8889548;8894702 23457 F5GX86;F5GXZ5;F5GYI2;F5H0G0;F5H4Y2;F5H5F9;F5H5I5;F5H5Q0;F5H7U2;H7C478;Q6P2Q0;Q9NP78 AB040953;AB045381;AB112582;AB112583;AB177852;ABBA01060439;ABBA01060440;AC026362;AC027290;AF216494;AK027624;AK074738;AK294225;AK304295;AL833963;AMYH02027443;BC017348;BC064384;CA503047;CH471054;CS071961;CS071963;DA796102;NM_001243013;NM_001243014;NM_019624;NM_019625;NM_203444;U66676;XM_005253558;XM_005253559;XM_006719314;XR_429086 AAF89993;AAH17348;AAH64384;BAA96044;BAA97989;BAC11171;BAC98409;BAC98410;BAD66830;BAG51360;BAG57529;BAG65152;CAD38811;CAI93387;CAI93388;EAW98353;EAW98354;EAW98355;EAW98356;EAW98357;EAW98358;EAW98359;EAW98360;EAW98361;EAW98362;EAW98363;NP_001229942;NP_001229943;NP_062570;NP_062571;NP_982269;Q9NP78;XP_005253615;XP_005253616;XP_006719377 Hs.511951 1762317;1766435;1771921;1773958;1795264;2161609;2176072;5016478;5016675;5107535;5109281 A004P27;ABCB9_677;D1S1425;GDB:434012;HSC1CH052;RH78153;RH79740;SGC30324;SHGC-146164;SHGC-149768;STS-AA022496 EST122234;KIAA1520;TAPL;hABCB9 ABC transporter 9 protein;ATP-binding cassette sub-family B member 9;ATP-binding cassette transporter 9;OTTHUMP00000239382;OTTHUMP00000239383;OTTHUMP00000239384;OTTHUMP00000239385;TAP-like protein;tap-like abc transporter APPROVED protein-coding ENSG00000150967 HGNC:50 09262 605453 REVIEWED 1315462 ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010] 6 6 6 p21.1 44951089 44969748 + 43395282 43418163 + 43427544 43450425 + 1358123;6480464;8554872 12433976 11146224;12477932;12527806;12566991;14574404;14702039;15231747;15256465;16034073;17203221;17897319;18974132;19082471;19118001;19150344;19343046;19720054;19841739;21576088;21628669;21890473;21906983;22082652;22739155;23087055;24937672;8894702 89845 D6R9B3;H0Y904;Q5T3U5 ABBA01050683;AK000002;AK024446;AL122095;AL133613;AL359813;AMYH02013646;AY032599;BC024103;CH471081;NM_001198934;NM_033450;XM_005249470;XM_006715240 AAH24103;AAI66699;AAK39642;BAA92227;BAB15736;CAB59263;CAB63742;EAX04180;EAX04181;EAX04182;EAX04183;EAX04184;EAX04185;NP_001185863;NP_258261;Q5T3U5;XP_005249527;XP_006715303 Hs.55879 1797244;2190963 ABCC10_2608;MARC_12101-12102:1004643664:1 EST182763;MRP7;SIMRP7 ATP-binding cassette sub-family C member 10;OTTHUMP00000016438;OTTHUMP00000016441;multidrug resistance-associated protein 7 APPROVED protein-coding ENSG00000124574 HGNC:52 07623 612509 REVIEWED 1350146 ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q12.1 32707949 32776213 - 48200782 48281479 - 48166911 48235177 - 1580863;6480464;8699517;8554872 11435397;11483364;11591886;11688999;11802779;11803621;12076558;12133003;12477932;12764137;15277376;15331440;15537867;16359813;16444273;17095618;19056867;19240178;19336370;19383836;19557017;19625231;19644513;19650936;19710689;20718756;20937735;21165769;21182469;21187511;21423094;21782178;22256739;22699162;23288347;23350374;23619188;23970085;24024896;24076068;24231443;24286299 85320 H3BRJ2;Q96J66 ABBA01000918;AC007600;AC096996;AF352582;AF367202;AF411579;AK301547;AL117406;AMYH02031979;AY040219;BC039085;CH471092;NG_011522;NM_032583;NM_033151;NM_145186 AAI52903;AAI57085;AAK19755;AAK58869;AAK76739;AAL99902;BAG63044;EAW82715;EAW82716;EAW82717;EAW82718;EAW82719;EAW82720;EAW82721;EAW82722;NP_115972;NP_149163;NP_660187;Q96J66 Hs.652267 1339376;1686995;2110237 ABCC11_2869;D16S3044;RH74962 EWWD;MRP8;WW ATP-binding cassette protein C11;ATP-binding cassette sub-family C member 11;ATP-binding cassette transporter MRP8;ATP-binding cassette transporter sub-family C member 11;OTTHUMP00000164191;OTTHUMP00000164192;multi-resistance protein 8;multidrug resistance-associated protein 8 APPROVED protein-coding ENSG00000121270 HGNC:14639 06127 117800;607040 REVIEWED 1342698 ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008] 16 16 16 q12.1 32624011 32687808 - 48116884 48180681 - 48082973 48146770 - 1580863;6480464;8554872 11435397;11483364;11688999;12011458;12477932;14965249;15489334;16344560;19615732;20379614;20877624;24529757;25015289 94160 B4DYN2;E9PHY2;Q96J65 ABBA01000918;AC096996;AF395908;AF395909;AF411577;AF411578;AK122635;AK127951;AK302520;AK307109;AK308599;AMYH02031979;AY040220;AY196326;BC036378;CH471092;DA096073;NM_033226 AAI46311;AAI48750;AAK76740;AAL79528;AAL79529;AAL99900;AAL99901;AAO40749;BAG53632;BAG63794;EAW82705;EAW82706;EAW82707;EAW82708;EAW82709;EAW82710;EAW82711;EAW82712;EAW82713;EAW82714;NP_150229;Q96J65 Hs.410111 1738843;1795266 ABCC12_1424;D16S2894 MGC27071;MRP9 ATP-binding cassette sub-family C member 12;ATP-binding cassette transporter sub-family C member 12;OTTHUMP00000164186;OTTHUMP00000236234;OTTHUMP00000236236;OTTHUMP00000236237;OTTHUMP00000236238;multidrug resistance-associated protein 9 APPROVED protein-coding ENSG00000140798 HGNC:14640 06128 607041 REVIEWED 1344624 ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012] 16 16 16 p13.1 15781784 15917085 + 16043434 16236931 + 15949577 16143074 + 1580863;631914;5128827;5128824;5128825;5128826;5128828;6480464;6484113;8554872 11238654;12930913;17072643;18931056;20487524;8662992 10064732;10493829;10811882;10835642;10950878;11114332;11139250;11266082;11278596;11278867;11439001;11465409;11469806;11557130;11561076;11600213;11689020;11721885;11755464;11771758;11783953;11809686;11820781;11925441;11937269;11986944;11995968;11996108;12018890;12034727;12042670;12084474;12119019;12135486;12146977;12163030;12186871;12235150;12388549;12388627;12458196;12486126;12576456;12628490;12646196;12653207;12783859;12856092;12882957;12890151;12897808;12925771;12954082;12954620;12960109;1360704;14561746;14578045;14580377;14722114;14737110;14984901;15155846;15161912;15208328;15245331;15252017;15260484;15269137;15355964;15472893;15623154;15628876;15810950;15856298;15999530;16014004;16041239;16041243;16156793;16230346;16278376;16293801;16330681;16395283;16410721;16464259;16481346;16547352;16551273;16565074;16621983;16697012;16784241;16821592;16883578;16914551;16946557;16960658;17033200;17050692;17203221;17215852;17264072;17295059;17336270;17350479;17445775;17494643;17596751;17606722;17710652;17852453;17875533;17890284;17925548;17980150;18029348;18038766;18056276;18200595;18204073;18256692;18280247;18316614;18336795;18381794;18400250;18439156;18621020;18680196;18690847;18702307;18711657;18713069;18775981;18799096;18838379;18851956;18924151;19019175;19063607;19065772;19067123;19107762;19129072;19165709;19214143;19214144;19235593;19285030;19291917;19343046;19349540;19393132;19438741;19513507;19552816;19622290;19636555;19672972;19687781;19723058;19851296;19875192;19883630;19885582;19897579;19913121;19924384;19940267;19946888;19948975;19956635;19969351;19969624;20004175;20051532;20093746;20109555;20198315;20200426;20233511;20234362;20388502;20453000;20520284;20530282;20532504;20604746;20628086;20689807;20922799;21090806;21139048;21143841;21177244;21182225;21315686;21317832;21435954;21520403;21609321;21701864;21736601;21793937;21799180;21890473;21903422;21906983;21929509;21956451;21963094;21987572;21988832;22026728;22037714;22053931;22084240;22086004;22117969;22143792;22182917;22188235;22232552;22272278;22293538;22353810;22445357;22511347;22664042;22695718;22787275;22798502;22871336;22899102;22939629;22982023;23052202;23178537;23396606;23580527;23667609;23686318;23765166;23799853;23896815;23917219;23996099;24013781;24024181;24030729;24080162;24129190;24145140;24145283;24146141;24382439;24816145;25029804;2753893;7916458;8098549;8649356;8831715;9295302;9334225;9344662;9441948;9485377 4363 I3L2H9;I3L4X2;P33527 AB209120;ABBA01048910;ABBA01048911;ABBA01048912;ABBA01048913;ABBA01048914;ABBA01048915;ABBA01048916;ABBA01048917;ABBA01048918;ABBA01048919;ABBA01048920;ABBA01048921;AC003026;AC025778;AC130651;AC136624;AC243757;AC243824;AF022853;AJ003198;AK311015;BC001636;BX648866;CH471226;CR749835;EF419769;HQ917064;HQ917065;HQ917066;HQ917067;KC877577;L05628;NG_028268;NM_004996;U91318;X78338;XM_005255327;XM_005255328;XM_005255329;XM_006720884;XM_006720885 AAB46616;AAB83979;AAB83980;AAB83981;AAB83982;AAB83983;AAC05808;AAC15784;AAH01636;AAI56354;AAI57106;ABN79590;AEK86268;AEK86269;AEK86270;AEK86271;BAD92357;CAH18691;EAW53936;EAW53937;EAW53938;EAW53939;EAW53940;EAW53941;EAW53942;EAW53943;EAW53944;EAW53945;EAW53946;EAW53947;EAW53948;EAW53949;NP_004987;P33527;XP_005255384;XP_005255385;XP_005255386;XP_006720947;XP_006720948 Hs.391464 1680144;1684606;1728619;1763767;1769980;1795268;2126995;2128267;2141987;2144125 ABCC1_679;D16S2586E;G63601;RH64912;RH65306;RH79017;SHGC-12494;SHGC-147442;SHGC-5825;SHGC-60500 ABC29;ABCC;DKFZp686N04233;DKFZp781G125;GS-X;MRP;MRP1 ATP-binding cassette sub-family C member 1;ATP-binding cassette transporter variant ABCC1delta-ex13;ATP-binding cassette transporter variant ABCC1delta-ex13&14;ATP-binding cassette transporter variant ABCC1delta-ex25;ATP-binding cassette transporter variant ABCC1delta-ex25&26;LTC4 transporter;OTTHUMP00000045904;leukotriene C(4) transporter;multidrug resistance associated protein 1;multidrug resistance protein;multidrug resistance-associated protein 1;multiple drug resistance protein 1;multiple drug resistance-associated protein APPROVED protein-coding ENSG00000103222 HGNC:51 01153 158343 REVIEWED 619569 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008] 10 10 10 q24 95279806 95349643 + 101542457 101611662 + 99782694 99851905 + 631914;1598602;1598611;1598613;1598614;1598616;1598571;1598605;69812;1580863;704399;1358123;2312726;2312728;2312730;2312736;2312809;2317509;2316977;2317508;6480464;6907045;7240710;2301067;8552693;8554872;8699517 10053008;12433976;12663688;12702498;15319330;16037978;16139386;1632778;16504477;16572733;16899240;17135344;17353665;17664251;18189363;19020751;19356064;19451719;23462933;8599091;8662992 10361853;10464142;10496535;10573531;11004020;11076395;11093739;11266082;11477083;11500505;11677213;11745434;11937269;11952788;12068294;12130697;12222674;12388192;12395335;12477932;12576456;12615054;12628490;12702717;12704183;12890151;12942343;12960109;14568249;15057744;15211708;15226675;15519273;15801936;15848949;15870973;15922475;16041239;16330681;16341674;16385451;16426233;16505951;16542205;16628674;16672223;16712791;16771603;16788565;16791115;16821592;16946557;17047488;17060857;17083032;17112803;17145840;17156953;17185998;17241877;17287630;17403188;17478601;17485564;17494643;17502832;17534875;17578901;17606722;17622941;17725603;17825285;17890284;17906856;17924828;17925548;17997497;18038766;18176959;18180270;18192894;18221820;18294295;18334920;18381564;18381794;18416940;18439156;18445995;18498916;18509327;18518855;18597651;18676680;18690847;18695635;18697280;18799096;18838068;18926681;18946804;18974617;18981587;19010343;19017997;19038257;19074644;19098406;19167193;19170196;19214140;19343046;19349540;19400747;19415824;19421150;19442037;19480556;19494809;19513507;19541926;19568750;19581412;19625176;19636001;19692168;19696793;19730281;19771428;19776292;19842932;19857663;19865079;19885582;19885591;19890061;19937833;19944137;19956635;19956884;20061166;20082599;20102361;20124171;20147615;20173083;20193114;20200426;20204280;20216337;20351751;20368715;20404332;20439344;20453000;20530282;20565459;20658178;20679960;20702406;20720558;20738239;20839930;20922799;20943283;20973683;21039333;21044052;21059598;21072184;21134393;21160029;21170509;21206495;21449672;21451505;21541183;21691255;21799461;21864659;21899702;21906983;21918980;21945491;21963094;21986666;21988832;22027652;22062654;22095822;22112610;22178260;22186618;22201120;22256867;22275271;22307138;22318656;22407408;22428913;22454528;22469515;22473764;22534871;22630058;22664480;22673116;22676135;22695893;22744337;22899102;22922069;22939629;22955427;23052037;23069858;23131697;23135210;23188068;23190519;23222202;23232902;23237922;23278697;23381786;23506516;23562342;23633119;23697249;23700788;23717663;23841074;23896815;24325761;24378332;24404132;24711118;7559771;8797578;8894702;9185779;9284939;9425227;9525973;9878557 1244 Q5TCZ5;Q92887 ABBA01063241;ABBA01063242;ABBA01063243;AF144630;AJ132244;AL133353;AL392107;AMYH02023647;AMYH02023648;BC136419;BM765259;CB120555;CH471066;CS172499;GM000488;NG_011798;NM_000392;U49248;U63970;U66683;X96395;XM_006717630;XM_006717631 AAB09422;AAB39892;AAD47599;AAI36420;CAA65259;CAB45309;CAJ33679;CAS97349;EAW49852;EAW49853;NP_000383;Q92887;XP_006717693;XP_006717694 Hs.368243 1711908;1713433;1779986;2113948;2122400;2144365 ABCC2;D10S2172;D10S2421;G49565;RH119574;SHGC-154232 ABC30;CMOAT;DJS;KIAA1010;MRP2;cMRP ATP-binding cassette sub-family C member 2;OTTHUMP00000020267;canalicular multidrug resistance protein;canalicular multispecific organic anion transporter 1;multidrug resistance-associated protein 2 APPROVED protein-coding ENSG00000023839 HGNC:53 03065 237500;601107 REVIEWED 1352103 ABCC13 ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene This gene is a member of the superfamily of genes encoding ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This family member is part of the MRP subfamily, which is involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding a functional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 21 21 21 q11.2 803367 830950 + 15646120 15673707 + 14273799 14301386 + 1580863;6480464;8554872 10049586;10830953;12036298;12445816;12477932;12909339;14759258;15203202;16124856;18668432;21988832;23738518;8894702 150000 Q9NSE7 ABBA01057083;AF130358;AF418600;AF518320;AF518321;AMYH02037515;AP001660;AY063514;AY063515;AY344117;AY344118;BC144077;CH471079;CS300709;DR004370;NR_003087;NR_003088 AAL47201;AAL47202;AAL99903;AAM70494;AAM70495;AAQ22368;AAQ65077;BAA95546;CAK32373;EAX10058;EAX10059;Q9NSE7 Hs.366575 1688791;1740643;1797246;2120340;2147107;5015619 ABCC13_1906;D11S3114;D21S1839;D21S1951;RH99103;SHGC-52079 C21orf73;PRED6 ATP-binding cassette protein C13 APPROVED pseudo ENSG00000243064 HGNC:16022 10586 608835 REVIEWED 6481332 ABCC5-AS1 ABCC5 antisense RNA 1 3 3 183724126 183729207 + 184006338 184011419 + 100873982 ABBA01058465;ABBA01058466;AC068644;AMYH02008299;BE549568;HG496438;NR_046570 Hs.570696 RP11-315J22.3 APPROVED ncrna ENSG00000223882 HGNC:40055 VALIDATED 734363 ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing of this gene has been detected; however, the complete sequence and translation initiation site is unclear. [provided by RefSeq, Jul 2008] 3 3 3 q27 182081049 182178505 - 183637722 183735803 - 183919934 184017939 - 1580863;1358123;2301088;2325200;6480464 12433976;15688370;16997484 10340910;10438534;10721709;10728601;10737800;10840050;10893247;12388627;12477932;12637526;12646196;12695538;14507663;15146197;15297306;15631998;15861033;16156793;17521428;17540771;17803828;18690847;19077464;19343046;19898482;19903828;19913121;19940267;19956884;20597995;20628086;20922799;21449672;21890473;21906983;21963094;21988832;22272278;22278731;22843873;23000965;23271324;8894702;9270026;9325169;9827529 10057 A5PKY6;C9JZL5;E9PET4;F8WCY8;F8WDH3;H7C271;O15440 AB005659;AB019002;AB209103;AB209454;ABBA01058465;ABBA01058466;ABBA01058467;ABBA01058468;AC068644;AF104942;AF146074;AL524917;AMYH02008298;AMYH02008299;AW207515;AY196484;AY754874;AY754875;AY754876;BC050744;BC051358;BC140771;BC142670;BC142719;BC144495;BE085682;BX647245;CH471052;CN410200;CN429416;NM_001023587;NM_005688;U66687;U83661;XM_005247058;XM_005247059 AAB71758;AAD04169;AAD37716;AAH50744;AAI40772;AAI42671;AAI42720;AAO49801;AAW82948;AAW82949;AAW82950;BAA22887;BAA76608;BAD92340;BAD92691;EAW78306;EAW78307;EAW78308;EAW78309;EAW78310;NP_001018881;NP_005679;O15440;XP_005247115;XP_005247116 Hs.368563;Hs.743953 1648419;1655612;1688446;1725617;1730273;1777292;2112566;2112574;2112608;2114832;2117880;2154204;2166795;2177294;2179963;2181761;2216970;5017244;5095006;5491840;7184709 ABCC5;ABCC5_681;CH241-100C11_T7;D3S1324E;D3S4256;D3S4341;D3S4345;D3S4424;G62024;RH46232;RH47340;RH70792;RH71180;RH80629;SGC33898;SHGC-34525;SHGC-64857;SHGC-77595;STS-N68159;STS-T83859 ABC33;DKFZp686C1782;EST277145;MOAT-C;MRP5;SMRP;pABC11 ATP-binding cassette sub-family C member 5;MOATC;OTTHUMP00000210859;OTTHUMP00000210861;OTTHUMP00000210862;OTTHUMP00000210863;OTTHUMP00000210864;atp-binding cassette, sub-family c (cftr/mrp), member 5a;canalicular multispecific organic anion transporter C;multi-specific organic anion transporter C;multidrug resistance-associated protein 5 APPROVED protein-coding ENSG00000114770 HGNC:56 06898 605251 REVIEWED 736866 ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 17 17 17 q22 45173593 45230401 + 48712205 48769063 + 50634844 50691702 + 1300327;1598620;1580863;1358123;2301069;2301064;2301062;2301060;2301067;2325200;6480464;6907045;8552693;8554872 10094960;12433976;14731123;15688370;16543292;17135344;17640958;17855625;18096675;23462933 10340910;10359813;10362653;10772892;11745434;11820781;11850532;12220224;12477932;12628490;12704183;14759258;15167703;15824121;16278398;16424827;16460798;16946557;17272513;17300812;17485564;17494643;17495421;18038766;18207572;18313914;18593940;18604784;18698235;18799096;19077464;19107936;19114588;19334674;19343046;19345732;19480556;19913121;19937796;19956884;20200426;20379614;20453000;20563633;20628086;20706999;20922799;21139048;21512263;21606946;21780830;21799180;21906983;21963094;21987572;22016816;22089114;22105759;22272278;22585709;22699933;22767273;23000965;23069916;23176825;23588304;23692149;23747343;24083708;24272336;8894702;9270026;9738950;9813153;9827529;9889399 8714 D6RAB7;D6RJE5;H0Y8Q6;H0Y8T5;H0Y9T4;O15438;Q86VN9 AB010887;AB208954;ABBA01041243;ABBA01041244;AC004590;AC005921;AF009670;AF083552;AF085690;AF085691;AF085692;AF104943;AF154001;AJ294545;AMYH02033596;AMYH02033597;BC034683;BC046126;BC050370;BC058907;BC104952;BC127655;BC131755;BC137347;BC137348;BX649137;CH471109;NM_001144070;NM_003786;U83659;XM_005257763;Y17151 AAB71756;AAC34668;AAD01430;AAD02845;AAD02846;AAD02847;AAD04170;AAD38185;AAH46126;AAH50370;AAI04953;AAI37348;AAI37349;BAA28146;BAD92191;CAA76658;CAC69553;EAW94590;EAW94591;EAW94592;EAW94593;EAW94594;NP_001137542;NP_003777;O15438;XP_005257820 Hs.463421 1660231;1670209;1743393;1761015;1783626;1789360;1795270;1797248;5037552;5109281;7186728 ABCC3_1044;ABCC3_2390;D1S1425;D8S2279;G67864;GDB:315953;RH45401;SHGC-144981;SHGC-172087;STS-W86661 ABC31;DKFZp686E22157;EST90757;MLP2;MOAT-D;MRP3;cMOAT2 ATP-binding cassette sub-family C member 3;OTTHUMP00000221667;OTTHUMP00000221668;OTTHUMP00000221669;OTTHUMP00000221670;canalicular multispecific organic anion transporter 2;canicular multispecific organic anion transporter;multi-specific organic anion transporter D;multidrug resistance associated protein;multidrug resistance-associated protein 3 APPROVED protein-coding ENSG00000108846 HGNC:54 06826 604323 REVIEWED 1352399 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] 13 13 13 q32 76520037 76801492 - 95672083 95953705 - 95019829 95301441 - 1580863;2301085;6480464;6907045;8552693;8554872 15030973;23462933 10470083;11856762;11991713;12105214;12133003;12477932;12499391;12523936;12637526;12695538;12792791;12835412;12883481;14643890;15123239;15297306;15364914;15827327;16156793;16282361;16791115;17003774;17081983;17083032;17229149;17404579;17578901;17682070;17696930;17878487;17903305;17939016;17959747;18045536;18364470;18612080;18615486;18625884;18636120;18662272;18676680;18690847;19073137;19077464;19082692;19138942;19170196;19343046;19399588;19400747;19480556;19515727;19625176;19692168;19696793;19735648;19903828;19913121;19940267;19956635;20018925;20032540;20133816;20171186;20200426;20379614;20393862;20395535;20530583;20547088;20628086;20727860;20804728;20834067;20922799;21139048;21156465;21205825;21296199;21359593;21571869;21741706;21799180;21866459;21890473;21897051;21906983;21922333;21963094;21987572;22139419;22272278;22411990;22542979;23087145;23126166;23222202;23472950;23478653;23503867;23575399;23665398;23742099;23766510;23794731;24024181;24036158;24067562;24184504;24436471;24492322;24510239;24591841;24694755;24836986;24870404;24902864;24909729;24958844;25121519;25174819;2806887;7557451;8894702;9270026;9661885 10257 B7Z3Q7;O15439;Q8IUA3 AB208973;ABBA01027193;ABBA01027194;ABBA01027195;ABBA01027196;ABBA01027197;ABBA01027198;ABBA01027199;ABBA01027200;ABBA01027201;ABBA01027202;AF071202;AF071203;AF339763;AF541977;AK290317;AK296247;AK298953;AK309460;AL139381;AL157818;AL356257;AL359750;AMYH02028513;AMYH02028514;AMYH02028515;AMYH02028516;AMYH02028517;AMYH02028518;AMYH02028519;AMYH02028520;AY081219;AY133678;AY133679;AY133680;AY207008;BC041560;BM687848;BP382967;BU689822;BX113883;BX647118;CA314196;CH471085;CN410193;CS223373;NM_001105515;NM_001301829;NM_001301830;NM_005845;U83660;XM_005254025;XM_006719914 AAB71757;AAC27076;AAC27077;AAH41560;AAL88745;AAN08628;AAN08629;AAN08630;AAN17334;AAO37649;BAD92210;BAF83006;BAH12293;BAH12910;CAJ46926;EAX08949;EAX08950;EAX08951;EAX08952;NP_001098985;NP_001288758;NP_001288759;NP_005836;O15439;XP_005254082;XP_006719977 Hs.508423 1340287;1694824;1697592;1726305;1737441;1737505;1851737;2110239;2111656;2111658 ABCC4_2463;D13S1004;D13S1041;D13S1581;D13S1582;D13S631;G43645;G62453;RH102306;STS-N34031 EST170205;MOAT-B;MRP4 ATP-binding cassette sub-family C member 4;MOATB;MRP/cMOAT-related ABC transporter;OTTHUMP00000018560;bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4);canalicular multispecific organic anion transporter (ABC superfamily);multi-specific organic anion transporter B;multidrug resistance-associated protein 4;multispecific organic anion transporter B APPROVED protein-coding ENSG00000125257 HGNC:55 05583 605250 REVIEWED 2293908 ABCC6P2 ATP-binding cassette, sub-family C, member 6 pseudogene 2 16 16 p13.11 14916289 14918559 - 14822432 14824702 - 6480464 12477932;15760889;18405356;22873774 730013 AC136443;AC245049;BC015978;NR_023387 Hs.460057 5114788 A007L01 pseudo ENSG00000255277 HGNC:33353 PROVISIONAL 734433 ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p13.1 15923582 15972084 - 16243422 16318083 - 16149565 16223471 - 1580863;1331525;737772;1549868;1358123;6480464;7240710;8554872;8699517 10835643;11493310;12433976;15118671 10424734;10493829;10585762;10811882;10835642;10913334;10954200;11058917;11179012;11427982;11431746;11439001;11536079;11702217;11776382;11880368;12176944;12384774;12477932;12673275;12714611;12850230;12901863;14631379;15459974;15645653;15723264;15727254;15760889;15889270;15894595;15996518;16086317;16127278;16374464;16392638;16543900;16835894;17045963;17309461;17617515;17724214;17823974;17880583;18024896;18029147;18191640;18253096;18305351;18347285;18439156;18791038;18800149;18850323;19056482;19133228;19240061;19284998;19298904;19339160;19341707;19343046;19904211;19929409;20032990;20075945;20301292;20463007;20541540;20801516;20855565;21179111;21748403;21813308;21831958;21988832;22056557;22209248;22763786;22873774;23122642;23382691;23572048;23625951;23702584;23912081;24008425;24277820;24352041;24479134;24555429;3359381;4841083;8894702;8912525;9267806;9721217;9892204 368 A2RRN8;E7ESW8;I3L1Z6;O95255 ABBA01048921;ABBA01048922;ABBA01048923;ABBA01216899;AC136624;AC243824;AF076622;AF168791;AI074459;AK298295;AM711638;AM774324;AY078405;BC050733;BC131732;CH471226;DC361874;NG_007558;NM_001079528;NM_001171;U91318;XM_005255310;XM_006725193;XM_006725194 AAC15785;AAC79696;AAD51293;AAH50733;AAI31733;AAL83711;BAG60553;CAN84639;CAO81806;EAW53950;EAW53951;EAW53952;NP_001072996;NP_001162;O95255;XP_005255367;XP_006725256;XP_006725257 Hs.442182 1648547;1699632;1789292;2118931;2190093;5037552;5114788 99-4448;A007L01;D8S2279;G67881;RH103419;RH70947;STS-X95715 ABC34;ARA;EST349056;GACI2;MLP1;MOAT-E;MRP6;PXE;PXE1;URG7 ATP-binding cassette sub-family C member 6;MOATE;OTTHUMP00000160427;anthracycline resistance-associated protein;liver multidrug resistance-associated protein 6;multi-specific organic anion transporter E;multidrug resistance-associated protein 6 APPROVED protein-coding ENSG00000091262 HGNC:57 04453 177850;264800;603234;614473 REVIEWED 1625838 ABCC6P1 ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional) 16 16 16 p12.3 17778272 17779791 - 18582570 18609611 + 18571248 18598289 + 6480464 12477932;18405356;22873774 653190 ABBA01001980;ABBA01001981;AC136618;AK298443;AMYH02031613;BC075833;NR_003569 BAH12790 Hs.13188 1683481;1694756;1714015 G43581;RH119438;RH74970 APPROVED pseudo ENSG00000256340 HGNC:33352 PROVISIONAL 735726 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] 12 12 12 p12.1 27105336 27244581 - 21950323 22094797 - 21797389 21941863 - 1580863;1598644;1598645;1598647;1300328;2301909;6480464;7240710;8554872;8699517 15034580;15115899;15857625;15964031;18471810 10093054;10497157;10498831;10625598;11007308;11054556;11136227;11825905;12107410;12145195;12189208;12356945;12477932;12738227;12934053;14702039;15339904;16189514;16267564;16563363;16672225;16820413;18026101;18239147;18663158;18936737;18996111;19343046;19481058;19607836;19729596;19913121;19952277;19962959;20033705;20301486;20474083;20600101;20628086;20664073;20847183;22105623;22608503;22610116;23251661;23307537;23739550;25275207;8630239;8826984;9457174;9692785;9714850;9755153 10060 G3V1N6;H0YFV4;K4DI86;O60706;Q8N4N7 ABBA01067973;ABBA01067974;ABBA01067975;AC008250;AC084806;AF061323;AF061324;AK056519;AK092535;AK094171;AMYH02026170;AMYH02026171;BC033804;BX537513;BX640893;CA389699;CH471094;KF459680;KF495813;KF570253;NG_012819;NM_005691;NM_020297;XM_005253284;XM_005253286;XM_005253287;XM_005253288;XM_005253289;XM_005253290;XM_005253291;XM_006719025 AAC16057;AAC16058;AAH33804;BAC04300;EAW96452;EAW96453;EAW96454;EAW96455;EAW96456;EAW96457;EAW96458;EAW96459;EAW96460;NP_005682;NP_064693;O60706;XP_005253341;XP_005253343;XP_005253344;XP_005253345;XP_005253346;XP_005253347;XP_005253348;XP_006719088 Hs.732701 1716419;1743003;2146578;5015607;5015609;5018983;5022637;5118147 AL033784;D11S2766;D11S3014;D11S3017;D11S3026;GDB:229337;RH121390;SHGC-18112 ABC37;ATFB12;CMD1O;FLJ36852;SUR2 ATP-binding cassette sub-family C member 9;ATP-binding cassette transporter sub-family C member 9;CANTU;OTTHUMP00000240076;OTTHUMP00000240077;OTTHUMP00000240078;sulfonylurea receptor 2;sulfonylurea receptor 2A APPROVED protein-coding ENSG00000069431 HGNC:60 03258 239850;601439;608569;614050 REVIEWED 1353939 ABCD1P1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 2 2 p11 3130 3906 + 89764144 89764920 - 8829626;9215666 23785 ABBA01126667;AC242245;NG_001246;U90290;X82264 pseudo HGNC:62 INFERRED 733938 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] 11 11 11 p15.1 17544259 17628301 - 17414432 17498449 - 17392885 17476845 - 704365;737749;1580863;1598639;1598640;737750;704366;1598635;1625279;1598645;2301903;2301896;2301904;2301898;2301913;2311063;2301911;2313628;2301901;2301906;2301914;2301897;2325205;6480464;6484113;6907045;7240710;8554872;8699517 11030411;12199344;12496311;12524541;15579791;15857625;16416420;16550187;17259403;17285300;17657312;17673715;18021373;18025464;18316485;18346985;18599530;18664331;18776135;18940941;7716548;9769320 10202168;10204114;10334322;10338089;10447255;10506167;10506587;10615958;10639163;11018078;11160857;11226335;11318841;11536079;11692183;11825905;11867634;11938023;12118200;12149601;12213829;12356945;12364426;12475776;12540637;12879777;12937135;12941782;12941953;14660679;14728986;15111507;15356046;15562009;15579781;15613469;15807877;15840308;15842514;16357843;16373383;16429405;16613899;16873704;16885549;16897043;17118480;17207885;17213273;17317760;17378627;17389331;17446535;17516295;17535866;17575084;17593344;17597441;17636114;17668386;17823772;17919176;17942821;17942822;18025408;18162506;18281290;18290324;18339976;18390792;18392808;18497752;18596924;18679166;18758683;18767144;18796522;18828733;18988933;18996102;19021632;19056482;19139106;19254908;19342262;19343046;19475716;19498446;19578796;19587354;19766903;19913121;20042013;20079163;20164212;20215776;20301549;20301620;20384434;20410530;20453000;20573158;20602615;20628086;20682687;20685672;20734064;20810569;20863361;20922570;21173146;21199866;21214702;21378087;21422196;21536946;21540348;21544516;21617188;21671119;21674179;21716120;21923736;21978130;21981029;21989597;21992908;22020219;22086197;22106158;22187380;22308858;22326206;22451668;22466262;22533711;22562119;22704848;22802590;22815030;22927833;22972803;23050777;23266803;23273570;23301914;23345197;23362136;23633925;23652837;23764562;23965746;24065655;24080777;24145932;24429282;24686051;24768178;7502040;7716547;7847376;7920639;8630239;8635661;8650576;8751851;8923011;9041101;9135131;9519757;9568693;9618169;9648840;9653196 6833 E9PK50;H0YDH8;H0YE33;H0YEA9;H0YF51;Q09428 AB209084;ABBA01061064;ABBA01061065;AC124798;AF087138;AK297560;AMYH02024383;AMYH02024384;AW444836;BM313666;BM352492;BU950000;CH471064;DB636549;HM635782;L40625;L78207;L78243;NG_008867;NM_000352;NM_001287174;R84665;U63421;U63455;XM_006718286 AAA99227;AAB02278;AAB02417;AAB02418;AAB36699;AAB36700;AAC36724;AAI67829;ADM67556;BAD92321;BAH12616;EAW68436;EAW68437;NP_000343;NP_001274103;Q09428;XP_006718349 Hs.54470 1336607;1659797;1757091;1773345;1848352;2184721;5491349;7186379 Abcc8;D11S2032;D11S2282E;D11S4388;D11S902;RH36002;SHGC-144482 ABC36;HHF1;HI;HRINS;MRP8;PHHI;SUR;SUR1;SUR1delta2;TNDM2 ATP-binding cassette sub-family C member 8;ATP-binding cassette transporter sub-family C member 8;OTTHUMP00000232577;atp-binding cassette, subfamily c (cftr/mrp), member 8;sulfonylurea receptor (hyperinsulinemia);sulfonylurea receptor 1 APPROVED protein-coding ENSG00000006071 HGNC:59 02741 125853;240800;256450;600509;606176;610374 REVIEWED 1342564 ABCD1P3 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 3 16 16 16 p11 30805852 30806644 - 32486344 32487136 - 32475023 32475815 - 9215666 26982 ABBA01001314;AC138915;AMYH02031864;NG_001269;U90289 pseudo HGNC:64 INFERRED 1352747 ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008] X X X q28 153224004 153243898 + 152990323 153010216 + 153724868 153744762 + 1580863;1598655;6480464;7240710;8554872;8699517 8048932 10190819;10369742;10480364;10551832;10640429;10704444;10737980;10777694;10980539;11248239;11438993;11748843;11798073;11810273;11883941;11992258;12175782;12210797;12477932;12509471;12530690;12579499;12624723;14533738;14556192;14767898;15001567;15489334;15643618;15772093;15772651;15781447;16018167;16087056;16331554;16756494;16781659;17285533;1746561;17504626;17542813;17609205;17662307;17761426;17828604;18306728;18481121;18757502;18973459;19204726;19343046;19406751;19787628;19946888;20042197;20301491;20376793;20659892;20661612;20811636;20889312;21145416;21273699;21700483;21889498;21890473;21963094;21966424;21987572;21988832;22280810;22939629;22994209;23123468;23300730;23469258;23566833;23671276;23835273;24480483;24501781;25027693;6524872;6795626;7581394;7668254;7717396;7811247;7825602;7849723;7904210;7959759;8002973;8004093;8040304;8441467;8507690;8520725;8535452;8566952;8651290;9195223;9215666;9425230;9702690 215 A6NEP8;H0Y7L9;P33897 ABBA01045361;ABBA01045362;ABBA01045363;ABBA01045364;AMYH02040842;AY421736;AY421737;AY421738;BC015541;BC025358;CH471172;DQ305405;KF510653;NG_009022;NM_000033;U52111;Z21876;Z31348 AAH15541;AAH25358;AAR07956;AAR07957;AAR07958;ABC41634;ABM81926;ABM85103;CAA79922;CAA83230;EAW72817;NP_000024;P33897 Hs.159546 1702226;1743943;1744517;1744549;1744551;1748043;1787982;1787984;5117360;5117362;5117364;5117366;5117368;5117508;5120852;5120854 G65802;G67205;G67214;GDB:376627;GDB:376680;GDB:376683;GDB:511618;GDB:523970;GDB:524010;GDB:524013;GDB:524016;GDB:524019;GDB:524020;GDB:524023;GDB:572900;UniSTS:99200 ABC42;ALD;ALDP;AMN ATP-binding cassette sub-family D member 1;OTTHUMP00000025960;adrenoleukodystrophy protein APPROVED protein-coding ENSG00000101986 HGNC:61 02300 300100;300371 REVIEWED 1351987 ABCD1P4 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 22 22 22 q11 548659 549448 + 16868415 16872610 + 16387689 16391884 + 10591208;9215666 26957 ABBA01001472;AC137499;AMYH02037976;AP000543;NG_001265;U90291 ALD22Q11 pseudo HGNC:65 INFERRED 1351336 ABCD1P2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2 10 10 10 p11 311720 312509 - 38894541 38898740 + 38601410 38605609 + 9215666 26983 ABBA01003913;AL133173;NG_001270;U90288 bA453N3.6 pseudo HGNC:63 INFERRED 5487936 ABCD1P5 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 5 2 2 p11.1 92028072 92031839 + 91840046 91843813 + 11181995 642762 ABBA01048752;AC127391;AMYH02004287;CH471366;NG_006974 EAW50840 1794258 PMC310890P10 pseudo HGNC:42662 INFERRED 736620 ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p21.3 93137599 93238680 + 94883933 94984219 + 94418377 94518663 + 1580863;1300330;1598658;6480464;7240710;8699517;8554872 1301993;7528830 10447258;10551832;10704444;10777694;11248239;11453642;11883941;12176987;12477932;1301179;14702039;14709540;1536884;16344115;16710414;17353931;17602313;17609205;18029348;18660489;19343046;19615732;19913121;19946888;20007743;20379614;20562859;20628086;20661612;20877624;21139048;21145461;21525035;21890473;21906983;21963094;21987572;21988832;22190034;22505724;22678362;22939629;22990118;23000965;23602568;24250222;24333844;24457600;24816145;8449508;8453064;8726233;9126326;9199576;9425230;9521874;9765053;9922452 5825 P28288 ABBA01045508;ABBA01045509;AC093117;AC118469;AK126440;AK296791;AK302714;AK308159;AL138758;AMYH02001508;BC009712;BC068509;BT006644;BX648715;CH471097;DC317792;M81182;NG_008865;NM_001122674;NM_002858;X58528;X83467;XM_005271088;XM_005271089;XM_006710802 AAA60128;AAH09712;AAH68509;AAP35290;BAG59369;BAG63934;CAA41416;CAA58470;EAW73046;EAW73047;EAW73048;EAW73049;EAW73050;NP_001116146;NP_002849;P28288;XP_005271145;XP_005271146;XP_006710865 Hs.700576 1644239;1722447;1742403;1795274;1850817;2154093;2176066 1400;ABCD3_1048;D1S3571;G29187;G60300;GDB:196676;SHGC-75171 ABC43;PMP70;PXMP1;ZWS2 70 kDa peroxisomal membrane protein;ATP-binding cassette sub-family D member 3;OTTHUMP00000012428;OTTHUMP00000012429;Peroxisomal membrane protein-1 (70kD);dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1));peroxisomal membrane protein 1 (70kD, Zellweger syndrome) APPROVED protein-coding ENSG00000117528 HGNC:67 01368 170995 REVIEWED 730967 ABCD2 ATP-binding cassette, sub-family D (ALD), member 2 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008] 12 12 12 q12 38749047 38818059 - 39945022 40013843 - 39551220 39620041 - 1300329;1580863;6480464;8554872 8577752 10196381;10329405;10551832;10704444;10777694;11883941;12477932;15489334;16249184;16344560;17602313;18029348;18660489;18834860;19343046;20661612;20877624;21145416;21963094;21987572;23437103;24338191;9195160;9345306 225 Q9UBJ2 ABBA01049534;AC121334;AC125491;AF119822;AF119823;AF119824;AF119825;AF119826;AF119827;AF119828;AF119829;AF119830;AF119831;AJ000327;AK314254;AMYH02026333;BC104901;BC104903;CH471111;DB259336;NM_005164;U28150 AAB00541;AAD30439;AAI04902;AAI04904;BAG36920;CAA03994;EAW57807;NP_005155;Q9UBJ2 Hs.117852 1704410;1795272 ABCD2_195;SHGC-82897 ABC39;ALDL1;ALDR;ALDRP;hALDR ATP-binding cassette sub-family D member 2;OTTHUMP00000240848;adrenoleukodystrophy-like 1;adrenoleukodystrophy-related protein APPROVED protein-coding HGNC:66 03051 601081 REVIEWED 734018 ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008] 6 6 6 p21.33 32137288 32157421 + 30539170 30559309 + 30571393 30591532 + 1580863;6480464 10581359;10931828;12477932;14574404;15302935;15345747;15489334;16169070;16964243;17081983;17119950;17370265;17456004;17894550;19343046;19570978;19738201;19851445;19912639;19946888;21048031;21139048;21145461;21252943;21832049;21890473;21900946;21906983;21907836;22174317;22586326;22678362;22863883;22952844;23000965;23182705;23263557;23719290;24250222;24457600;24816145;9790762 23 F5GYK6;H0YGW7;Q2L6I2;Q5STZ8;Q8NE71 AB023052;AB088096;AB103602;AB202093;AB209564;ABBA01038049;ABBA01038050;AC006138;AF027302;AK298061;AK307551;AL662800;AL662825;AL832430;AMYH02013436;AMYH02013437;BA000025;BC016772;BC034488;BC112923;BI547952;BM556481;BU620927;BX000357;BX119957;BX248518;BX927220;CH471081;CR388372;CR753328;CR759778;CR847863;NM_001025091;NM_001090 AAC70891;AAH16772;AAH34488;AAI12924;ABM82181;ABM85743;BAB63325;BAC54928;BAD92801;BAE78612;BAF31263;BAG60354;CAH10648;EAX03300;EAX03301;EAX03302;NP_001020262;NP_001081;Q8NE71 Hs.655285 1725631;1795276;2181544;2218716;5022578;5024039;5037552 ABCF1_1054;ABCF1_2136;D16S325;D1S1423;D6S2266;D8S2279;G62097 ABC27;ABC50 ATP-binding cassette 50 (TNF-alpha stimulated);ATP-binding cassette sub-family F member 1;OTTHUMP00000029110;OTTHUMP00000029111;OTTHUMP00000238584;TNF-alpha-stimulated ABC protein;TNFalpha-inducible ATP-binding protein APPROVED protein-coding ENSG00000204574 HGNC:70 09139 603429 REVIEWED 7246954 ABCF2P1 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 1 3 3 3 p11.1 89120226 89122156 + 88366241 88368171 + 88317091 88319021 + 344653 ABBA01004635;AC126475;AMYH02007222;NG_022253 pseudo HGNC:48841 INFERRED 7246989 ABCF2P2 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 2 7 7 7 64942718 64943755 + 71568157 71569194 + 72103172 72104209 + 100422059 ABBA01064008;AC004845;AMYH02016006;CH236952;NG_026596 pseudo HGNC:48842 INFERRED 1313249 ABCE1 ATP-binding cassette, sub-family E (OABP), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q31 143346498 143378018 + 146019156 146050676 + 145098004 145129524 + 6480464;8554872 11585831;11780123;12477932;12578357;12600646;14747530;15107989;15489334;15809757;16196087;16275648;16344560;17222823;17233757;18006034;18189233;19020832;19343046;19615732;19657357;19946888;20122402;20372810;21139048;21145461;21448132;21543480;21890473;21906983;21963094;21987572;22004035;22053931;22267055;22268729;22505724;22586326;22623428;22678362;22851315;22863883;23008114;23125841;23266104;23305486;23455922;23891004;24244333;24457600;24623418;24778252;24816145;25015289;25027693;7539425;8641422;8838820;9660177;9847332;9877446 6059 D6R9I9;D6RGF4;H0Y990;P61221 AB062293;ABBA01070024;AC096757;AK315198;AMYH02010248;BC016283;BC016988;BT009779;CH471056;DA218189;DQ148409;L24115;NM_001040876;NM_002940;X74987;X76388 AAH16283;AAH16988;AAP88781;AAZ38723;BAB93476;CAA52920;CAA53972;EAX05049;NP_001035809;NP_002931;P61221 Hs.12013 1744285;2187327;5014051;5019198;5022578;5123639 D1S1423;D8S2278;GDB:451571;RH104489;RH70908;SHGC-50255 ABC38;OABP;RLI;RNASEL1;RNS4I;huHP68 2'-5'-oligoadenylate-binding protein;ATP-binding cassette sub-family E member 1;OTTHUMP00000220305;OTTHUMP00000220421;RNASELI;RNase L inhibitor;ribonuclease 4 inhibitor;ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) inhibitor APPROVED protein-coding ENSG00000164163 HGNC:69 03132 601213 REVIEWED 1312673 ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2 This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding casette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Jul 2013] 7 7 7 q36 145462282 145481675 - 150904923 150924460 - 151207830 151227374 - 1580863;6480464;8554872 10581359;10922475;10944468;11124703;11435397;12477932;12690205;12840015;12853948;15231747;15489334;15790807;16009940;16203778;16996567;18781797;19002184;19343046;19946888;20877624;21139048;21890473;21906983;21963094;21987572;21988832;22053931;22252987;22268729;22504420;22505724;22863883;22939629;23000965;23382691;23862649;24654937;24816145;25027693;8894702;9878413 10061 C9JHK9;C9JZV3;Q9UG63 AACC02000108;ABBA01035160;ABBA01035161;AC021097;AF091073;AF261091;AF261092;AJ005016;AL050291;AMYH02017071;BC001661;BG720644;BT007451;CH471173;CR987440;HY165500;NM_005692;NM_007189;XM_005249931;XM_006715824 AAC72942;AAG13902;AAG13903;AAH01661;AAP36119;AAS00378;AAS00379;ABM83230;ABM86429;CAA06290;CAB43392;EAL24507;EAL24508;EAW54013;EAW54014;EAW54015;EAW54016;EAW54017;NP_005683;NP_009120;Q9UG63;XP_005249988;XP_006715887 Hs.654958 1659931;1779936;1853439;2139142;2176282;2216972;5020635 ABCF2_3305;D7S2124E;D7S3207;RH68744;SHGC-154184;WI-11989;WI-14058 ABC28;DKFZp586K1823;EST133090;HUSSY-18;HUSSY18;M-ABC1 ABC-type transport protein;ATP-binding cassette sub-family F member 2;Iron inhibited ABC transporter 2;OTTHUMP00000206140;OTTHUMP00000206141;iron-inhibited ABC transporter 2 APPROVED protein-coding ENSG00000033050 HGNC:71 12403 612510 REVIEWED 1316370 ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 54789295 54807078 - 74751980 74769767 - 74285277 74303064 - 1580863;6480464;8699517;7240710;8554872 12111378;12477932;14533738;15800013;15909363;16169070;16344560;18029348;19343046;20301503;20661612;21139048;21514256;21906983;22922874;8889548;9266848;9302272;9521874;9599016 5826 E9PI46;E9PPB6;G3V3W1;G3V4U7;H0YCY9;H0YJ78;H0YJ82;H0YJL8;H0YJX8;O14678 ABBA01030724;AC005519;AF009746;AK291332;AK297934;AK308382;AMYH02029514;BC012815;BF062605;BI916327;BM667379;BQ893869;BT007412;BX247984;BX248053;CH471061;CQ798278;CR457104;DA713794;DA799558;DC332064;NG_032875;NM_005050;NR_003256;XM_005267936;XM_005267938;XM_005267939;XM_005267940;XM_005267941;XM_005267942;XM_005267946;XM_005267949;XM_005267951;XM_005267952;XM_005267953;XM_005267954;XM_006720223;XR_245710;Y14318;Y14322;Y14323 AAB83967;AAH12815;AAP36080;ABM83773;ABM87093;BAF84021;BAH12692;CAA74699;CAD62318;CAD62355;CAG26855;CAG33385;EAW81165;EAW81166;EAW81167;EAW81168;EAW81169;EAW81170;EAW81171;EAW81172;NP_005041;O14678;XP_005267993;XP_005267995;XP_005267996;XP_005267997;XP_005267998;XP_005267999;XP_005268003;XP_005268006;XP_005268008;XP_005268009;XP_005268010;XP_005268011;XP_006720286 Hs.94395 1646403;1679567;1773059;1773061;1774557;2133215;2155046;2163686;5095094 A006I12;A008S38;ABCD4;G20837;G38080;HSC13B122;RH44881;RH70410;RH91782 ABC41;EST352188;MAHCJ;P70R;P79R;PMP69;PXMP1L 69 kDa peroxisomal ABC-transporter;ATP-binding cassette sub-family D member 4;OTTHUMP00000195523;PMP70-related protein;PXMP1-L;peroxisomal membrane protein 1-like;peroxisomal membrane protein 69 APPROVED protein-coding ENSG00000119688 HGNC:68 04446 603214;614857 REVIEWED 1347632 ABCG3 ATP-binding cassette, sub-family G (WHITE), member 3 10708515;11178751 64007 AF324242 HGNC:13883 1321386 ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); defense response to virus (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',5-triiodo-L-thyronine; copper(II) chloride 3 3 3 q27.1 182345574 182353503 + 183903863 183911795 + 184186075 184194007 + 6480464 11435397;12477932;14702039;15489334;16159877;16169070;16344560;19471022;19946888;21139048;21906983;22053931;22268729;22472876;22863883;22939629;24052230;24250222;24457600;24816145;8894702 55324 F8WCU6;Q9NUQ8 ABBA01058455;AC131235;AK002060;AK024758;AK027288;AK092415;AK097073;AK126150;AK290106;AK299256;AK299433;AMYH02008301;BC009253;BC035652;BC051754;BC051884;CH471052;DB079392;DC318082;NM_018358 AAH09253;AAH51754;AAH51884;ADZ15454;BAA92063;BAB14989;BAC03881;BAF82795;BAG61287;BAG61411;EAW78288;EAW78289;NP_060828;Q9NUQ8 Hs.361323 1797250;1849731;2146236;2175732;2191001 A007B05;ABCF3_2614;G29218;MARC_12819-12820:999872670:3;RH41945 EST201864;FLJ11198 ATP-binding cassette sub-family F member 3;OTTHUMP00000210711;OTTHUMP00000210712 protein-coding ENSG00000161204 HGNC:72 12404 VALIDATED 732219 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008] 2 2 2 p21 43878347 43904690 - 44039611 44066039 - 43806130 43838900 - 1300331;1580863;1598659;1558629;1598662;1300236;6480464;6907045;7240710;8554872;8699517 11099417;12444248;14618236;16026620;16764892 11138003;11435688;11452359;11590207;11668628;11855938;11907139;12124998;12150943;12208867;12208868;12220438;12477932;14504269;14702039;14703505;15121760;15175352;15262185;15311998;15520451;15611112;15816807;15930516;15980630;16250035;16472606;16518588;16614398;16870176;16893193;16980816;17055487;17098593;17102949;17403900;17474147;17612515;17626266;17632509;17690481;17827468;18007013;18457353;18522623;18581044;18641716;18660489;18850127;18996102;19005228;19012522;19019257;19060911;19111681;19217458;19270375;19306529;19343046;19692220;19878569;19913121;19917453;19936222;19956635;20170916;20172523;20210363;20370913;20403997;20413122;20467438;20497293;20521169;20581104;20602615;20628086;20679960;20686565;20855565;22655090;22898925;23179156;23556150;23790976;24097068;24498041;24584735;24623560;24657701;9727073 64240 E5RFY8;E5RHB7;E7EX35;Q9H222 ABBA01075097;AC011242;AC108476;AF312715;AF320293;AF404106;AF404107;AK091997;AMYH02003699;BC111541;BC111542;CH471053;NG_008883;NM_022436;XM_005264480;XM_005264481;XM_006712073;XM_006712074 AAG40003;AAG53099;AAI11542;AAI72287;AAK85387;AAK85388;AAY14703;AAY24010;EAX00286;EAX00287;EAX00288;NP_071881;Q9H222;XP_005264537;XP_005264538;XP_006712136;XP_006712137 Hs.132992 1298195;1334808;1661783;1676714;1797254;2119527 ABCG5_2000;D2S1352;D2S1788;RH27092;RH70461;RH70519 STSL ATP-binding cassette sub-family G member 5;ATP-binding cassette, subfamily G, member 5;OTTHUMP00000158956;OTTHUMP00000201654;sterolin 1;sterolin-1 APPROVED protein-coding ENSG00000138075 HGNC:13886 05678 210250;605459 REVIEWED 732853 ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 28767307 28866320 + 43619799 43724497 + 42199689 42297244 + 1580863;1300235;6480464;8554872 10639163 10799558;10830953;10950923;11072082;11162488;11279031;11350058;11500512;11590207;12032171;12477932;14702039;15240127;15489334;15492319;15584507;15994327;16024918;16054053;16357317;16556852;16702602;16730733;16780588;16857950;16870176;16902247;17020879;17082211;17121837;17141191;17187964;17241464;17293612;17387528;17408620;17761632;17848583;18057374;18490524;18599800;18619413;18640393;18660489;18827283;19168441;19287193;19322201;19343046;19481530;19556716;19839639;19895785;19913121;19948975;20057170;20170916;20395595;20585627;20628086;20675829;20713650;20798376;20931526;21111593;21289254;21295304;21722899;21817095;21821149;21978921;22155456;22353356;22365996;22466164;22503545;22505724;22614118;22753765;22772754;22872754;23139370;23172659;23402987;23564066;23770099;23880356;23897420;23990020;24192121;24212237;24320932;24393350;24500716;24529757;24576892;24901717;8619474;8659545;8703120;9034316;9110174 9619 C9JKD9;E9PGV9;P45844 AB038161;ABBA01014173;ABBA01014174;AF038175;AF086547;AF323658;AF323660;AF323661;AF323662;AF323663;AF323664;AJ289137;AK092959;AK292152;AK298491;AL355688;AL355711;AL833689;AMYH02037871;AP001622;AP001623;AP001746;AY048757;BC029158;BX537588;CH471079;KC877901;KC877905;NM_004915;NM_016818;NM_207174;NM_207627;NM_207628;NM_207629;X91249 AAB97364;AAH29158;AAK28833;AAK28834;AAK28835;AAK28836;AAK28837;AAK28838;AAK28839;AAK28840;AAK28841;AAK28842;AAL06598;ABM82269;ABW03371;ACE87838;ACT64470;BAA95530;BAB13728;BAF84841;BAG60699;CAA62631;CAC00730;EAX09574;EAX09575;NP_004906;NP_058198;NP_997057;NP_997510;NP_997511;NP_997512;P45844 Hs.124649;Hs.418279 1714751;1749435;1772316;1772318;1772751;1774459;1790645;2163142;2216974 A005U31;ABCG1_3286;D21S1225;G20514;G34692;RH120041;SHGC-111166;SHGC-87665;STS_CEB276 ABC8;MGC34313;WHITE1 ABC transporter 8;ATP-binding cassette sub-family G member 1;ATP-binding cassette transporter 8;ATP-binding cassette transporter member 1 of subfamily G;OTTHUMP00000109322;OTTHUMP00000109323;OTTHUMP00000109324;OTTHUMP00000109325;OTTHUMP00000109326;OTTHUMP00000109327;homolog of Drosophila white;white protein homolog (ATP-binding cassette transporter 8) APPROVED protein-coding ENSG00000160179 HGNC:73 04355 603076 REVIEWED 1314115 ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4 The protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily and is expressed predominantly in liver tissue. The function has not yet been determined but may involve cholesterol transport. Alternate splice variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 116179542 116193169 + 119019750 119033375 + 119149040 119162666 + 1580863;6480464 11435397;11606068;11856881;12137944;12183068;12477932;15240127;15489334;16344560;16682745;16870176;16902247;18508037;18660489;18668433;19343046;19913121;19948975;20628086;22391220 64137 E9PJ00;Q9H172 ABBA01039678;AJ300465;AJ308237;AJ308238;AJ308251;AK289830;AK290035;AK308673;AL137563;AMYH02025663;AP002956;AY055472;BC041091;CH471065;DA093690;DA241043;KF511131;NM_001142505;NM_022169 AAH41091;AAL16400;AAL16401;AAL16402;BAF82519;BAF82724;CAB70814;CAC17140;CAC87131;EAW67464;EAW67465;EAW67466;NP_001135977;NP_071452;Q9H172 Hs.126378 1673500;1795278 ABCG4_683;D11S2450 WHITE2 ATP-binding cassette sub-family G member 4;ATP-binding cassette, subfamily G, member 4;OTTHUMP00000232083;OTTHUMP00000232085;OTTHUMP00000232086;putative ABC transporter APPROVED protein-coding ENSG00000172350 HGNC:13884 12130 607784 REVIEWED 1322201 ABHD1 abhydrolase domain containing 1 This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 27192963 27199985 + 27346632 27353680 + 27123764 27130991 + 6480464 11922611;12477932;12735795;14702039;15489334;15815621 84696 C9J8C2;F8WBB3;Q96SE0 ABBA01045194;ABBA01045195;AC013403;AK074615;AK093447;AMYH02003472;AY033290;BC028378;BC031868;BC039576;BC056403;CH471053;DB455979;KF459617;NM_032604;XR_244963;XR_244964;XR_244966 AAH39576;AAK44222;AAX93169;BAG52718;EAX00631;EAX00632;EAX00633;EAX00634;NP_115993;Q96SE0 Hs.375791 1678143;1681223;1772066;2161521;5015961;5022322;5024756;5037552 D11S2560;D15S1477;D8S2279;RH35839;RH80030;RH92602;STS-N81134;WI-21131 FLJ36128;LABH1 OTTHUMP00000122587;OTTHUMP00000200960;abhydrolase domain-containing protein 1;lung alpha/beta hydrolase 1 APPROVED protein-coding ENSG00000143994 HGNC:17553 07468 612195 REVIEWED 1352615 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 4 4 4 q22 86303350 86371627 - 89011416 89152569 - 88090264 88231417 - 1580863;2315573;2315584;2315568;2315569;2315580;2315587;2316977;5135288;6480464;6484113;6907045;7240710;8552693;8554872 11948115;15906349;16190927;17353665;17915193;18451542;19152228;19733976;23462933 10070941;11306452;11309308;11533706;11566359;11590207;11688982;11801536;11807788;11986944;12054514;12111378;12145683;12208758;12369998;12374800;12393637;12429862;12438926;12459192;12477932;12479221;12576456;12604403;12668685;12682043;12741957;12810652;12874005;12958161;12960109;14566825;14576842;14613996;14702039;15001581;15014021;15014037;15027118;15044468;15146167;15170677;15208643;15229462;15251980;15252757;15260487;15355921;15475413;15489334;15557326;15598974;15607361;15618737;15625123;15670731;15769853;15801936;15807535;15811555;15811951;15813675;15838659;15899516;15917307;15961534;16008690;16024622;16041239;16086592;16108826;16146333;16160819;16278376;16278398;16343180;16367905;16402910;16445700;16460798;16505951;16528971;16543472;16554028;16612649;16618113;16704962;16707421;16749862;16791115;16815914;16847575;16870176;16954373;16960658;17032904;17098188;17148776;17228519;17229149;17237154;17273774;17275084;17297656;17312388;17323127;17340137;17347325;17373578;17380269;17434155;17438106;17445775;17460607;17481587;17494054;17505995;17518356;17519960;17534875;17569884;17595345;17622941;17627617;17662239;17671398;17682070;17686774;17690695;17701580;17851787;17875533;17916067;17923155;17925548;17927879;17934801;17938326;17938643;17975119;17976197;18042733;18055445;18056989;18094074;18159130;18167504;18180275;18200595;18207572;18221820;18237272;18240903;18245481;18249138;18255023;18256692;18309947;18315895;18370855;18382425;18392808;18408567;18429968;18430864;18509645;18558430;18559609;18573883;18588889;18644784;18668433;18681776;18695635;18702307;18710444;18725232;18775442;18793608;18806751;18820285;18823676;18824712;18829547;18834626;18838068;18841444;18841445;18951337;18958403;18981009;18991020;19023099;19032367;19052456;19063604;19074750;19101070;19107936;19114588;19131524;19139722;19141860;19165709;19167193;19172464;19188929;19232821;19240161;19251825;19277036;19333723;19340456;19343046;19349540;19367293;19403814;19406100;19421150;19442037;19474787;19477032;19503597;19506252;19514121;19523815;19541926;19546880;19567678;19584153;19593328;19605531;19622290;19629677;19636001;19642144;19670287;19672972;19691360;19696792;19708828;19713741;19728910;19751749;19771428;19782739;19782742;19785662;19825807;19842935;19878569;19885582;19890391;19898482;19909340;19913121;19921266;19924384;19930591;19940551;19956635;19967559;19969351;20019844;20035425;20053405;20088606;20103600;20109342;20130569;20139978;20162742;20162743;20171362;20182906;20200437;20203106;20207952;20304939;20307139;20332504;20360068;20368174;20389299;20399185;20421215;20437864;20453000;20460431;20472486;20492723;20530282;20562004;20570348;20592365;20600004;20604570;20626554;20628086;20663031;20670164;20679960;20682644;20691148;20701289;20705604;20705611;20714133;20717756;20720558;20728430;20739628;20804740;20839930;20846001;20857515;20858603;20858845;20884846;20885358;20922799;20936466;20950350;20959405;20972558;20975373;21054463;21072184;21091277;21106767;21111494;21132002;21133588;21154157;21184741;21219875;21245102;21321273;21321274;21323575;21332310;21365123;21421882;21445088;21449672;21455636;21459080;21465479;21487020;21523728;21526180;21531129;21625222;21630164;21640380;21707071;21712253;21718815;21731744;21748335;21774076;21775706;21827403;21854076;21859328;21864296;21878538;21884202;21918980;21922333;21935580;21943158;21943250;21956451;21963094;21971989;21983786;22004608;22062654;22093699;22112610;22116099;22132962;22132963;22132966;22161105;22182917;22193459;22209971;22229870;22236447;22241070;22246505;22246507;22266374;22331829;22340044;22340101;22342288;22348008;22360504;22391220;22395309;22401348;22452996;22473764;22497316;22515119;22521463;22521545;22525603;22581381;22587765;22632055;22673043;22736306;22750628;22752253;22797727;22800348;22845311;22851001;22870247;22882086;22887864;22922104;22925688;22937733;22952907;22959800;23047249;23064961;23065526;23069916;23092328;23118302;23150485;23153455;23166586;23169446;23238572;23240156;23244569;23262099;23263486;23274176;23280364;23287578;23301671;23317196;23342897;23381786;23385102;23394449;23402418;23435138;23438193;23467750;23469685;23490381;23493553;23534833;23539627;23544272;23552988;23558935;23569176;23603434;23619912;23622764;23623923;23650051;23665398;23665760;23713577;23774753;23778707;23780685;23790363;23800412;23827160;23827224;23838136;23838170;23868912;23879965;23930675;23960095;23962445;23984415;23993855;23996530;24013576;24024895;24030729;24032744;24094238;24107928;24151392;24269555;24297888;24324065;24338217;24380367;24382439;24388985;24391798;24456066;24469953;24718721;24872134;8894702;9850061;9861027;9892175 9429 H0YAF1;H0YAF3;Q9UNQ0 AB051855;AB056867;ABBA01063543;ABBA01063544;ABBA01063545;ABBA01063546;AC084732;AC097484;AF093771;AF093772;AF098951;AF103796;AF463519;AK002040;AK290000;AMYH02009686;AMYH02009687;AMYH02009688;AMYH02009689;AMYH02009690;AY017168;AY288307;AY289766;AY333755;AY333756;BC011032;BC021281;BC092408;BI598784;CH471057;CQ757490;DQ459561;DQ459562;DQ459563;DQ459564;DQ459565;DQ459567;DQ459568;DQ459570;DQ459571;DQ459572;DQ459573;DQ459574;DQ459575;DQ459576;DQ459577;DQ459578;DQ459579;DQ459580;DQ459581;DQ459582;DQ459583;DQ459584;DQ459585;DQ459586;DQ459587;DQ459588;DQ459589;DQ459590;DQ459591;DQ459592;DQ459593;DQ459594;DQ459595;DQ459596;DQ459597;DQ459598;DQ459599;DQ459600;DQ459601;DQ459602;DQ459603;DQ459604;DQ459605;DQ459606;DQ459607;DQ459608;DQ459609;DQ459610;DQ459611;DQ459612;DQ459613;DQ459614;DQ996467;HQ386990;HQ386991;HQ386992;HQ386993;HQ386994;HQ386995;HQ386996;HQ386997;HQ386998;HQ386999;HQ387000;HQ387001;HQ387002;HQ387003;HQ387004;HQ387005;HQ387006;HQ387007;NG_032067;NM_001257386;NM_004827;U66681;XM_005263354;XM_005263355;XM_005263356 AAC97367;AAD09188;AAG52982;AAH21281;AAH92408;AAO14617;AAP31310;AAP44087;AAQ92941;AAQ92942;AAY40902;ABI97388;ABM83234;ABM86433;ADO95109;ADO95110;ADO95111;ADO95112;ADO95113;ADO95114;ADO95115;ADO95116;ADO95117;ADO95118;ADO95119;ADO95120;ADO95121;ADO95122;ADO95123;ADO95124;ADO95125;ADO95126;BAA92050;BAB39212;BAB46933;BAF82689;CAF32512;EAX06012;EAX06013;NP_001244315;NP_004818;Q9UNQ0;XP_005263411;XP_005263412;XP_005263413 Hs.480218 1338978;1797252;2150603;2174464;2176898;2179701;5022018;5106229 ABCG2;ABCG2_1993;D4S2623;RH18379;SHGC-24753;SHGC-59795;SHGC-67418;STS-AA001604 ABC15;ABCP;BCRP;BCRP1;BMDP;CD338;CDw338;EST157481;GOUT1;MGC102821;MRX;MXR;MXR1;UAQTL1 ABC transporter;ATP-binding cassette sub-family G member 2;ATP-binding cassette transporter G2;OTTHUMP00000161176;OTTHUMP00000219514;breast cancer resistance protein;gout susceptibility 1;mitoxantrone resistance protein;mitoxantrone resistance-associated protein;multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2;placenta specific MDR protein;placenta-specific ATP-binding cassette transporter;urate exporter APPROVED protein-coding ENSG00000118777 HGNC:74 04783 138900;603756;614490 REVIEWED 732770 ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008] 2 2 2 p21 43904835 43944326 + 44066103 44105947 + 43838964 43878808 + 1300331;1601097;1580863;631968;1558629;1598662;1601095;1601094;1300237;6480464;6907045;7240710;8554872;8699517 11099417;11452359;11901146;12671028;14618236;15331430;15816807;16764892 11590207;11668628;11893785;12111378;12124998;12150943;12208867;12208868;12220438;12477932;14504269;14703505;15175352;15262185;15311998;15520451;15611112;15930516;16472606;16518588;16870176;16893193;16980816;17055487;17098593;17102949;17403900;17612515;17626266;17632509;17690481;17827468;18007013;18457353;18522623;18581044;18641716;18660489;18676680;18850127;18977479;19005228;19012522;19018975;19019257;19056482;19060906;19060911;19111681;19170196;19217458;19270375;19306529;19343046;19692168;19692220;19878569;19936222;20163776;20170916;20172523;20210363;20235787;20370913;20379614;20403997;20413122;20497293;20529992;20581104;20592455;20594224;20679960;20686565;20837016;20854103;21039838;21062971;21274884;21988832;22378727;22548731;22655090;22869156;22898925;23179156;23241408;23406058;23556150;23707316;23726366;23790976;23840693;24097068;24584735;24657701 64241 Q96A01;Q9H221 ABBA01075097;AC108476;AF320294;AF324494;AF351824;AF404106;AF404107;AMYH02003699;AMYH02003700;BC113657;BC143564;CH471053;NG_008884;NM_022437;XM_005264483;XM_006712075 AAG40004;AAI13658;AAI43565;AAK84078;AAK84663;AAK85386;AAK85389;AAY24011;ADR83246;EAX00285;NP_071882;Q9H221;XP_005264540;XP_006712138 Hs.413931 1337199;1701328;1797256;2151815;2175070;7183811 ABCG8_1950;D2S119;D2S2928;G29195;RH104294 GBD4;MGC142217;STSL ATP-binding cassette sub-family G member 8;ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2);ATP-binding cassette, subfamily G, member 8;OTTHUMP00000158952;sterolin 2;sterolin-2 APPROVED protein-coding ENSG00000143921 HGNC:13887 05679 210250;605460;611465 REVIEWED 6481284 ABHD11-AS2 ABHD11 antisense RNA 2 100874076 AC073846 APPROVED miscrna HGNC:40012 1342590 ABHD11-AS1 ABHD11 antisense RNA 1 (tail to tail) 7 7 7 q11.23 68627587 68628518 + 73149399 73150330 + 73735069 73736000 + 18398435;24984296 171022 ABBA01063941;AC073846;AMYH02016029;CV575750;HG500331;NR_026690 Hs.650513 1697940 RH102499 LINC00035;NCRNA00035;WBSCR26 APPROVED ncrna ENSG00000225969 HGNC:18289 612545 VALIDATED 1346003 ABHD10 abhydrolase domain containing 10 This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 3 3 3 q13.2 110096908 110111290 + 111697723 111712215 + 111978876 111993368 + 737633;1580863;6480464;8554872 12477932 11076863;11256614;14702039;15489334;15489336;16381901;19322201;20000738;20379614;20562859;20877624;21078990;21139048;21832049;21890473;21906983;22294686;22400490;22813719 55347 F8WBJ5;F8WBQ6;Q9NUJ1 ABBA01061669;AC060225;AK002204;AK093591;AK300018;AL713726;AMYH02007436;BC014516;CA427297;CH471052;DB453330;DB494690;DC395725;DR760607;NM_001272069;NM_018394;NR_073570;NR_073571 AAH14516;BAA92133;BAH13194;CAD28516;CAL37438;EAW79688;EAW79689;NP_001258998;NP_060864;Q9NUJ1 Hs.477115 1725069;1746029;2154513;2177474 D3S4249;RH118830;RH125627;WI-14974 FLJ11342 OTTHUMP00000214651;OTTHUMP00000214654;abhydrolase domain-containing protein 10, mitochondrial;alpha/beta hydrolase domain-containing protein 10, mitochondrial;mycophenolic acid acyl-glucuronide esterase, mitochondrial protein-coding ENSG00000144827 HGNC:25656 07751 REVIEWED 1606493 ABHD11 abhydrolase domain containing 11 This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68628612 68631377 - 73150424 73153190 - 73736094 73738860 - 6480464 11076863;12073013;12477932;12853948;15489334;15489336;15498874;16381901;17567985;20877624;21596165;21832049;21890473;21906983;24583282;24654937 83451 C9J7Q4;D3DXF2;H0YC52;H7BZ58;H7C396;Q8NFV4 ABBA01063941;AC073846;AF217971;AF412030;AF412031;AF412032;AI401767;AMYH02016029;AY053499;AY053500;BC008251;BC011712;BC067750;BG722364;BM557977;BP423415;BP872816;BU189995;CB998040;CH471200;DB460434;DR006453;NM_001145364;NM_001301058;NM_148912;NM_148913;NR_026910;NR_026912;XM_006716143;XM_006716144;XM_006716145;XR_428186 AAG17214;AAH08251;AAH11712;AAH67750;AAL14848;AAL14849;AAM62312;AAM62313;AAM62314;AAS07472;ABM82430;ABM85622;CAL37753;CAL38343;EAW69642;EAW69643;EAW69644;EAW69645;EAW69646;EAW69647;NP_001138836;NP_001287987;NP_683710;NP_683711;Q8NFV4;XP_006716206;XP_006716207;XP_006716208 Hs.647045 1697940;5022578;5037552 D1S1423;D8S2279;RH102499 PP1226;WBSCR21 OTTHUMP00000160502;OTTHUMP00000211791;OTTHUMP00000211794;OTTHUMP00000211795;OTTHUMP00000211796;Williams Beuren syndrome chromosome region 21;abhydrolase domain-containing protein 11;alpha/beta hydrolase domain-containing protein 11;williams-Beuren syndrome chromosomal region 21 protein APPROVED protein-coding ENSG00000106077 HGNC:16407 15658 REVIEWED 1314604 ABHD12 abhydrolase domain containing 12 This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011] 20 20 20 p11.21 25349117 25445220 - 25275379 25371618 - 25294743 25390982 - 6480464;7240710;8554872;8699517 11780052;12477932;14702039;15489334;16303743;17207965;20797687;21890473;22001757;22938382;22969151;23490117;24027063;24654937 26090 I3L1V0;I3L206;I3L294;I3L380;I3L440;Q5T712;Q8N2K0 ABBA01048723;ABBA01048724;ABBA01048725;ABBA01048726;ABBA01048727;ABBA01048728;ABBA01048729;AK075023;AK290815;AK293495;AL117442;AL121772;AL353812;AMYH02036846;AMYH02036847;AMYH02036848;BC014049;BQ574269;BQ672998;BQ961739;CH471133;NG_028119;NM_001042472;NM_015600;XM_005260698;XM_005260699;XM_005260700 AAH14049;ADQ32650;BAC11357;BAF83504;BAG56982;CAB55927;EAX10088;EAX10089;EAX10090;NP_001035937;NP_056415;Q8N2K0;XP_005260755;XP_005260756;XP_005260757 Hs.441550 1675628;1679680;1686390;1690926;1725729 D20S589E;G62120;RH12467;RH39023;RH76548 ABHD12A;BEM46L2;C20orf22;DKFZp434P106;PHARC;dJ965G21.2 2-arachidonoylglycerol hydrolase;OTTHUMP00000030492;OTTHUMP00000030493;abhydrolase domain-containing protein 12;chromosome 20 open reading frame 22;monoacylglycerol lipase ABHD12 APPROVED protein-coding ENSG00000100997 HGNC:15868 07094 612674;613599 REVIEWED 1318018 ABHD13 abhydrolase domain containing 13 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; 2-methoxyethanol (ortholog) 13 13 13 q33.3 89715507 89731348 + 108870763 108886603 + 108218415 108234255 + 6480464 12477932;14702039;15057823;15489334;16303743;18951430;19773279;19946888 84945 Q7L211 ABBA01027024;AK027812;AK124864;AL157762;AMYH02028679;BC018608;BC022566;BC070226;BQ424339;BX647428;CH471085;NM_032859 AAH22566;AAH70226;BAB55387;BAG54109;EAX09097;EAX09098;NP_116248;Q7L211 Hs.183528 5015992 Abhd13 BEM46L1;C13orf6;FLJ14906;MGC27058;RP11-153I24.2;bA153I24.2 OTTHUMP00000018692;abhydrolase domain-containing protein 13;alpha/beta hydrolase domain-containing protein 13;chromosome 13 open reading frame 6 protein-coding ENSG00000139826 HGNC:20293 12618 VALIDATED 1349841 ABHD12B abhydrolase domain containing 12B ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH fonofos; parathion; terbufos 14 14 14 q22.1 31205922 31238736 + 51338878 51371688 + 50872160 50904970 + 6480464;8554872 12477932;14702039;15489334;18029348 145447 Q7Z5M8 ABBA01018146;AK128464;AL358334;AMYH02029172;AY311396;AY311397;AY311398;AY311399;BC034603;BC107141;BC107142;CH471078;NM_001206673;NM_181814;XM_005267356;XM_005267357;XM_006720052 AAH34603;AAI07142;AAI07143;AAP78476;AAP78477;AAP78478;AAP78479;BAC87452;EAW65688;EAW65689;EAW65690;EAW65691;NP_001193602;NP_861535;Q7Z5M8;XP_005267413;XP_005267414;XP_006720115 Hs.271896 1689785;2135477;2152475;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;G35512;HUM000S289;RH98538 BEM46L3;C14orf29;MGC129926;MGC129927;c14_5314 OTTHUMP00000178964;OTTHUMP00000244779;abhydrolase domain-containing protein 12B protein-coding ENSG00000131969 HGNC:19837 VALIDATED 5133081 ABHD14A-ACY1 ABHD14A-ACY1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring abhydrolase domain containing 14A (ABHD14A) and aminoacylase 1 (ACY1) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to be protein-coding. [provided by RefSeq, Nov 2010] 3 3 p 52009042 52023218 + 51975026 51989202 + 6480464;8554872 20967262 100526760 C9JMV9;F2Z3Q0 ABBA01024516;AC115284;AK294015;AK298086;AMYH02006795;NR_037192 BAG57376;BAG60372 Hs.334707 1658480;1683279 RH11608;RH66446 FLJ60317;FLJ60467 APPROVED ncrna ENSG00000114786 HGNC:38856 VALIDATED 1603002 ABHD14B abhydrolase domain containing 14B ENCODES a protein that exhibits hydrolase activity; INVOLVED IN metabolic process; positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; cytosol; extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; cyclosporin A 3 3 3 p21.2 51981800 51987920 - 52002526 52008646 - 51968510 51974630 - 6480464;8554872 11053859;12477932;14672934;14702039;15489334;16303743;16344560;18029348;19056867;21139048;8889548 84836 B4DQI4;F8W9U3;Q96IU4;V9HW87 ABBA01024517;AC115284;AK075112;AK092152;AK096073;AK296599;AK298022;AK298813;AMYH02006795;BC007234;BC050650;BC056411;BC071931;BU732936;CH471055;CQ783024;CQ783152;CS072398;CS488917;DA315486;FJ224306;NM_001146314;NM_001254753;NM_032750 AAH07234;AAH50650;AAH56411;ACI45998;BAC04696;BAC11408;BAG59212;BAG60325;BAG60946;CAF86231;CAF86358;CAI93536;CAM55991;EAW65178;EAW65179;NP_001139786;NP_001241682;NP_116139;Q96IU4 Hs.420796 1852613;2181930 RH16446;SGC33900 CIB;HEL-S-299;MGC15429 CCG1-interacting factor B;OTTHUMP00000212466;OTTHUMP00000212467;OTTHUMP00000212469;OTTHUMP00000229616;abhydrolase domain-containing protein 14B;alpha/beta hydrolase domain-containing protein 14B;cell cycle gene 1-interacting factor B;epididymis secretory protein Li 299 protein-coding HGNC:28235 17504 VALIDATED 1601874 ABHD14A abhydrolase domain containing 14A ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; diazinon 3 3 3 p21.1 51988316 51994490 + 52007700 52015216 + 51975026 51981200 + 6480464;8554872 12477932;12975309;14667578;15146197;15489334;22863883;24250222;8889548 25864 C9IYJ8;C9J7W8;C9JMW6;Q9BUJ0 ABBA01024516;AC115284;AK308592;AL050015;AMYH02006795;AY358201;BC002571;BM665207;CH471055;CN256406;NM_015407 AAH02571;AAQ88568;ACE86906;ACE87593;CAB43237;EAW65180;NP_056222;Q9BUJ0 Hs.534400 2191475 MARC_23666-23667:1029506618:1 DKFZp564O243;DORZ1;FLJ60317;FLJ60467 OTTHUMP00000212482;abhydrolase domain-containing protein 14A;alpha/beta hydrolase domain-containing protein 14A protein-coding ENSG00000248487 HGNC:24538 08530 VALIDATED 2292190 ABHD17AP3 abhydrolase domain containing 17A pseudogene 3 1 1 1 q41 188002197 188005984 - 214778800 214782546 - 214605457 214609203 - 21139048;21890473;21906983 648359 ABBA01048143;AL445305;AMYH02002665;NG_030366 FAM108A4;FAM108A4P family with sequence similarity 108, member A4 APPROVED pseudo HGNC:34041 INFERRED 1320221 ABHD16B abhydrolase domain containing 16B ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH calcitriol; paracetamol; testosterone 20 20 20 q13.33 59176749 59178524 + 62492566 62494341 + 63861213 63862988 + 6480464 11780052;12477932;15489334;18976975;23535732;8889548 140701 Q96F95;Q9H3Z7 ABBA01021427;AL118506;AMYH02037475;AW772131;BC031949;BM700775;CH471077;NG_029863;NM_080622 AAI66655;EAW75203;NP_542189;Q9H3Z7 Hs.266774;Hs.675171 C20orf135;MGC42974;dJ591C20.1 OTTHUMP00000031618;abhydrolase domain-containing protein 16B;hypothetical protein LOC140701 APPROVED protein-coding ENSG00000183260 HGNC:16128 12746 VALIDATED 1604668 ABHD17AP1 abhydrolase domain containing 17A pseudogene 1 1 1 1 q21.2 1579 2588 + 147618345 147622067 + 148146066 148149788 + 16710414 728917 AC239803;AL049742;BX842679;NG_011738 ABHD17AP2;C1orf47;FAM108A11P;FAM108A2;FAM108A3;FAM108A3P APPROVED pseudo HGNC:28394 INFERRED 1351609 ABHD16A abhydrolase domain containing 16A A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 6 6 6 p21.3 33252945 33269362 - 31654726 31671137 - 31686949 31703360 - 1580863;6480464 12477932;12665801;14574404;14656967;14667819;14702039;15231747;15342556;15489334;15498874;17461779;18835879;19115949;19116923;19423540;19851445;20406964;20438785;20626023;20706999;21044367;21890473;21987572;23000965;2813433;2911734 7920 B3KNX9;B7Z8I9;F2Z3G6;F2Z3H2;F2Z3Q3;O95870 ABBA01038084;AF129756;AF193047;AI076373;AK001207;AK023194;AK025398;AK055255;AK289469;AK297712;AK303496;AK308573;AL662899;AL670886;AL805934;AMYH02013452;BA000025;BC031839;BE272017;BP261875;BX248244;BX511262;CH471081;CR354443;CR753842;CR759761;CR759787;DC318775;DC360732;NM_001177515;NM_021160;NR_033488;NR_033489 AAD18079;AAG22475;AAH31839;ABM82251;ABM85435;BAA91553;BAB14455;BAB63383;BAF82158;BAG51491;BAH12652;BAH13975;EAX03482;EAX03483;EAX03484;NP_001170986;NP_066983;O95870 Hs.388188 1652322;1672384;1852466;2124097;2149085;2175528;5113615 A002L14;D6S1165E;D6S1938;NIB1238;RH1536;RH93334;WI-10341 BAT5;D6S82E;NG26;PP199 HLA-B associated transcript 5;OTTHUMP00000029258;OTTHUMP00000174407;abhydrolase domain-containing protein 16A;protein G5 APPROVED protein-coding ENSG00000204427 HGNC:13921 15929 142620 REVIEWED 1605591 ABHD15 abhydrolase domain containing 15 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH arsenite(3-); ethyl methanesulfonate; formaldehyde 17 17 17 q11.2 24748479 24754842 - 27887679 27894042 - 29560661 29567024 - 6480464;8554872 12477932;12975309;14702039;19946888 116236 Q6UXT9 ABBA01015016;AC104564;AK055889;AK056717;AMYH02033251;AY358212;BC012476;CH471159;NM_198147 AAH12476;AAQ88579;EAW51191;NP_937790;Q6UXT9 Hs.106510 1677472;5021872 RH47444;sY3084 abhydrolase domain-containing protein 15 protein-coding ENSG00000168792 HGNC:26971 14014 VALIDATED 2293157 ABHD17AP4 abhydrolase domain containing 17A pseudogene P4 22 22 22 q11.21 4512838 4516580 - 21021885 21025627 - 20667597 20671339 - 10591208 729495 ABBA01015449;AC007050;AMYH02038078;CH471176;NG_023156 EAX02943 FAM108A5;FAM108A5P APPROVED pseudo HGNC:34042 INFERRED 1347246 ABHD17A abhydrolase domain containing 17A ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN membrane; INTERACTS WITH arsane; arsenic atom; elemental selenium 19 19 19 p13.3 1811047 1819590 - 1876975 1885518 - 1876976 1885519 - 737633;6480464 12477932 14702039;16303743;16344560;19946888;21890473;21906983;22505724;23000965;23088713 81926 K7ENJ6;K7EQ25;Q96GS6 ABBA01002691;AC012615;AK024419;AK074043;AK074548;AK090438;AK289533;AMYH02035171;AX468406;BC000158;BC009256;BC011667;BC020512;BC033749;BC035961;BC050605;BC071644;BC071876;BC094816;CH471139;CQ782500;DB025570;NM_001130111;NM_031213;XM_006722918 AAH00158;AAH09256;AAH11667;AAH20512;AAH33749;AAH35961;AAH71644;AAH71876;AAH94816;BAB15709;BAB84869;BAC03419;BAC11052;BAF82222;CAD42560;CAF85784;EAW69440;EAW69441;EAW69442;EAW69443;EAW69444;EAW69445;EAW69446;EAW69447;NP_001123583;NP_112490;Q96GS6;XP_006722981 Hs.465542;Hs.653679 C19orf27;FAM108A1;MGC5244 abhydrolase domain-containing protein FAM108A1;alpha/beta hydrolase domain-containing protein 17A;chromosome 19 open reading frame 27;family with sequence similarity 108, member A1 APPROVED protein-coding ENSG00000129968 HGNC:28756 07475 VALIDATED 3207450 ABHD17AP7 abhydrolase domain containing 17A pseudogene 7 16 16 p11.2 32737932 32740871 - 32726611 32729550 - 100133212 AC138907;NG_022980 FAM108A8P APPROVED pseudo HGNC:38508 INFERRED 3418290 ABHD17AP9 abhydrolase domain containing 17A pseudogene 9 16 16 p11.2 33152189 33155344 + 33140868 33144023 + 100132251 ABBA01158098;AC138869;AC145350;NG_028293 FAM108A10P APPROVED pseudo HGNC:38510 INFERRED 3520891 ABHD17AP5 abhydrolase domain containing 17A pseudogene 5 This locus is a pseudogene in the FAM108 family, and lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jun 2010] 22 22 22 q11.22 6289376 6289876 - 22471874 22472374 - 22117481 22118005 - 10591208;9074928 91219 ABBA01055079;AC245517;D86997;D88269;NG_000002 FAM108A6;FAM108A6P APPROVED pseudo HGNC:34043 REVIEWED 2859282 ABHD17AP8 abhydrolase domain containing 17A pseudogene 8 16 16 p11.2 32211210 32214143 + 32199889 32202822 + 647144 AC133485;AMYH02031861;NG_023021 FAM108A9P APPROVED pseudo HGNC:38509 INFERRED 3378585 ABHD17AP6 abhydrolase domain containing 17A pseudogene 6 17 17 17 p11.2 21794095 21797884 - 20744000 20747792 + 20840687 20844479 + 644988 ABBA01050452;AC090774;AMYH02033192;NG_022988 FAM108A7P APPROVED pseudo HGNC:34044 INFERRED 1313162 ABHD17B abhydrolase domain containing 17B ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; formaldehyde 9 9 9 q21.13 45050096 45098877 - 74477368 74526148 - 71862452 71911233 - 737633;6480464 12477932 10810093;15164053;15489334;19946888;21139048;21906983;22505724 51104 Q5VST6 ABBA01033843;AF151825;AI564777;AK293060;AL138751;AL671309;AMYH02020970;AMYH02020971;BC038390;BC044576;BG720713;CH471089;NM_001025780;NM_016014;XM_006717134;XM_006717135 AAD34062;AAH38390;AAH44576;BAF85749;EAW62521;EAW62522;NP_001020951;NP_057098;Q5VST6;XP_006717197;XP_006717198 Hs.380389 1663648;1723191;2163353;2165118;5037552 AFMa116yg9;D8S2279;RH121524;SHGC-36713;STS-T90485 C9orf77;CGI-67;FAM108B1;RP11-409O11.2 OTTHUMP00000021455;OTTHUMP00000021456;abhydrolase domain-containing protein FAM108B1;alpha/beta hydrolase domain-containing protein 17B;chromosome 9 open reading frame 77;family with sequence similarity 108, member B1 APPROVED protein-coding ENSG00000107362 HGNC:24278 12978 VALIDATED 1322825 ABHD2 abhydrolase domain containing 2 This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 66032695 66146881 + 89631381 89745591 + 89088150 89202360 + 1580863;6480464 11922611;12477932;14702039;15489334;16344560;16751776;17980156;18029348;20007591;21890473;21906983;21963094;22505724;23000965;23251661;2843827;8125298 11057 H3BMT2;H3BN19;H3BUZ6;P08910 ABBA01053004;ABBA01053005;ABBA01053006;AC013565;AC124068;AF546700;AI916724;AI918734;AK000554;AK095685;AK125089;AK127559;AK222841;AK223083;AK290340;AK296827;AL109729;AL110291;AMYH02031017;AMYH02031018;BC017905;BC019248;BC090052;BI459790;BI464471;CH471101;CR749694;DB024314;DB049736;DC369843;DC397201;DQ574578;DQ576078;NM_007011;NM_152924;X12433;XM_005254832;XM_005254833 AAH19248;AAH90052;AAQ12021;ABM82555;ABW03395;BAD96561;BAD96803;BAF83029;BAG59397;CAA30976;EAX02033;EAX02034;EAX02035;NP_008942;NP_690888;P08910;XP_005254889;XP_005254890 Hs.122337 1663281;1680731;1689586;1794362;2113178;2131388;2138807;5014585;5109281 D15S1499;D1S1425;G27598;PMC311040P2;RH18085;RH66720;RH93467;STS-N68085;STS-R00701 HS1-2;LABH2;MGC111112;MGC26249;PHPS1-2 OTTHUMP00000192923;abhydrolase domain-containing protein 2;alpha/beta hydrolase domain containing protein 2;lung alpha/beta hydrolase 2 APPROVED protein-coding ENSG00000140526 HGNC:18717 09791 612196 REVIEWED 1603613 ABHD17C abhydrolase domain containing 17C ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH afimoxifene; benzo[a]pyrene diol epoxide I; copper atom 15 15 15 q25.1 57925147 57985463 + 80987635 81047962 + 80695311 80755621 + 6480464 12477932;14702039;21139048;21906983;21963094;22542470 58489 H0YN98;Q6PCB6 ABBA01060630;ABBA01060631;AC023302;AK091780;AK092758;AK298606;AL390079;AMYH02030887;AMYH02030888;BC059401;BC115003;CH471136;NM_021214 AAH59401;AAI15004;BAG60790;CAB98203;EAW99113;NP_067037;Q6PCB6 Hs.459072 1665643;1693798;1754651 SHGC-133006;SHGC-58937;WI-14644 FAM108C1;FLJ34461;MGC131546 abhydrolase domain-containing protein FAM108C1;alpha/beta hydrolase domain-containing protein 17C;family with sequence similarity 108, member C1 APPROVED protein-coding ENSG00000136379 HGNC:26925 VALIDATED 1321686 ABHD3 abhydrolase domain containing 3 This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008] 18 18 18 q11.2 16036856 16090764 - 19230858 19284766 - 21650897 21704805 - 6480464 11922611;12477932;15489334;16344560;17207965;21890473;21906983;21963094;22359512;8619474;9110174 171586 J3KSP1;J3KTE1;J3QQR0;J3QR14;Q8WU67 ABBA01022676;ABBA01022677;ABBA01022678;AC106037;AF007152;AK024880;AK024992;AK298728;AMYH02034381;AMYH02034382;BC021196;CH471088;DB126083;EF444943;NM_138340;XR_243847;XR_430071 AAC19155;AAH21196;ACA05928;ADQ32713;BAH12858;EAX01131;NP_612213;Q8WU67 Hs.397978 1689943;2139451;2172271;2178357 RH45853;RH46292;RH46524;SHGC-64279 LABH3;MGC11259 abhydrolase domain-containing protein 3;alpha/beta hydrolase domain containing protein 3;lung alpha/beta hydrolase 3 APPROVED protein-coding ENSG00000158201 HGNC:18718 12405 612197 REVIEWED 1342875 ABHD5 abhydrolase domain containing 5 The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008] 3 3 3 p21 43670699 43702531 + 43732375 43764217 + 43690883 43722725 + 1598668;1580863;6480464;7240710;8554872;8699517 11590543 10810093;12477932;15136565;15489334;15967942;16679289;17308334;17495960;17631826;18339307;18606822;18832586;19061969;19401457;20307695;20370797;20467438;20520629;21122093;21139048;21757733;21963094;22245374;22373837;22383684;23297223;23557589;24250222;8619474;9110174 51099 C9J1D1;C9JBM3;F8W7B5;H7BZY9;Q8WTS1 ABBA01024758;AC105903;AF007132;AF151816;AK313811;AL606838;AMYH02006640;BC021958;BG721387;CH471055;NG_007090;NM_016006 AAD34053;AAH21958;ABM82101;ABM85283;BAG36547;CAD12731;EAW64699;NP_057090;Q8WTS1 Hs.19385 1648190;1651198;1659921;1691110;1771552;1853426;1855237;2112576;2138224;2157934;2162315;2174310 D3S3021;D3S4348;RH69765;RH79809;SHGC-57882;SHGC-76877;SHGC-76879;SHGC-76892;SHGC-76893;STS-F10866;STS-N63539;WI-14732 CDS;CGI58;IECN2;MGC8731;NCIE2 1-acylglycerol-3-phosphate O-acyltransferase ABHD5;OTTHUMP00000164033;abhydrolase domain-containing protein 5;lipid droplet-binding protein CGI-58 APPROVED protein-coding HGNC:21396 05308;11986 275630;604780 REVIEWED 1351429 ABHD6 abhydrolase domain containing 6 ENCODES a protein that exhibits acylglycerol lipase activity (inferred); INVOLVED IN long term synaptic depression (inferred); metabolic process (inferred); negative regulation of cell migration (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 3 3 3 p14.3 58237772 58295009 + 58223233 58280463 + 58237506 58294738 + 6480464 12477932;14702039;15489334;16344560;18360779;19793082;21139048;21906983;21988832;22505724;22827915;22969151;24390342;8125298 57406 C9J010;C9JNE7;F8WBP4;Q9BV23 ABBA01024391;ABBA01024392;AC098479;AC137936;AF225418;AK122983;AK172797;AK225942;AK313168;AMYH02006887;AX134787;BC001698;CH471055;DA266414;NM_020676;XM_005265334;XM_005265335;XM_005265336 AAG09720;AAH01698;BAD18771;BAG35986;BAG53832;CAC39533;EAW65360;EAW65361;EAW65362;EAW65363;EAW65364;EAW65365;NP_065727;Q9BV23;XP_005265391;XP_005265392;XP_005265393 Hs.476454 1679305;1784834;5115035;5115037 G20643;RH80347;SHGC-155512;STS-G20643 2-arachidonoylglycerol hydrolase;OTTHUMP00000214181;OTTHUMP00000214182;abhydrolase domain-containing protein 6;lipase protein;monoacylglycerol lipase ABHD6 protein-coding ENSG00000163686 HGNC:21398 12407 VALIDATED 1351473 ABI1P1 abl-interactor 1 pseudogene 1 14 14 14 q22.3 36062590 36066392 + 56013277 56017081 + 55546559 55550363 + 326268 ABBA01018212;AL138499;AMYH02029241;NG_002531 1731627 D14S178 ABI1P;SSH3BP1P APPROVED pseudo HGNC:20035 INFERRED 1323534 ABHD4 abhydrolase domain containing 4 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN lipid catabolic process (inferred); metabolic process (inferred); INTERACTS WITH benzo[a]pyrene; cobalt dichloride; copper atom 14 14 14 q11.2 2930195 2944309 + 23067147 23081265 + 22598238 22612359 + 1580863;6480464 12477932;14702039;15489334;16818490;18029348;21139048;21890473;21900206;21963094;22488300;23000965 63874 B4DDH7;F5GZC9;F5H067;F5H6T0;H0YFD5;J3KMW0;Q8TB40 ABBA01061280;AC243965;AK022878;AK024790;AK293198;AK298127;AK301315;AL160314;BC024779;CH471078;NM_022060;XM_005267986;XR_245712 AAH24779;BAB14289;BAG56738;BAG60407;BAG62866;EAW66251;NP_071343;Q8TB40;XP_005268043 Hs.445665 1652408;1676444 D14S1350;RH91439 ABH4;FLJ12816 OTTHUMP00000164495;OTTHUMP00000239718;abhydrolase domain-containing protein 4;alpha/beta-hydrolase 4;lyso-N-acylphosphatidylethanolamine lipase protein-coding HGNC:20154 12406 VALIDATED 1604650 ABI1 abl-interactor 1 This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011] 10 10 10 p11.2 26743902 26858351 - 27035525 27150016 - 26746596 26861087 - 6480464;6484113 1049958;10499589;10995551;11003655;11034908;11099046;11418237;11516653;11557983;11956071;12011975;12127568;12477932;12522270;12547160;12665801;12672821;12681507;14565974;15032605;15048123;15164054;15289329;15489334;15591787;15657136;15696170;15769844;15893754;16055720;16182283;16225669;16344560;16385451;16417406;16899465;17081983;17101133;17395426;17501982;17943163;17951403;18328268;18560548;19056867;19158278;19554484;19843640;20110575;20137729;20193272;20368287;20479892;20598684;21046228;21078624;21118970;21139048;21320496;21875946;21900237;21988832;22014333;22430194;22505724;22808230;22939629;23740246;24250222;24816145;8943360;9010225;9593709;9694699 10006 B6VEX3;B6VEX4;B6VEX5;F5H1G9;F8WA55;Q8IZP0 AB040151;AB209268;ABBA01034409;ABBA01034410;ABBA01034411;ABBA01034412;AF001628;AF006516;AF260262;AF540955;AJ277065;AK126803;AK291823;AK296751;AK298646;AK315914;AL139404;AL390961;AMYH02022500;AMYH02022501;AMYH02022502;AMYH02022503;AMYH02022504;AMYH02022505;BC013238;BC024254;CH471072;DB019974;FJ380057;FJ380058;FJ380059;NG_030025;NM_001012750;NM_001012751;NM_001012752;NM_001178116;NM_001178119;NM_001178120;NM_001178121;NM_001178122;NM_001178123;NM_001178124;NM_001178125;NM_005470;U87166;XM_005252332;XM_005252333;XM_006717359;XM_006717360;XM_006717361 AAB62569;AAC39757;AAD00897;AAF70309;AAH24254;AAN28379;ACJ12783;ACJ12784;ACJ12785;BAB55675;BAD92505;BAF84512;BAG54374;BAG59334;BAG60820;BAH14285;CAB88006;EAW86077;EAW86078;EAW86079;EAW86080;EAW86081;EAW86082;EAW86083;NP_001012768;NP_001012769;NP_001012770;NP_001171587;NP_001171590;NP_001171591;NP_001171592;NP_001171593;NP_001171594;NP_001171595;NP_001171596;NP_005461;Q8IZP0;XP_005252389;XP_005252390;XP_006717422;XP_006717423;XP_006717424 Hs.508148 1341485;1716593;1755173;2189895;5123927 99-1126;D10S593;RH121642;SHGC-142094;WI-15761 ABI-1;ABLBP4;E3B1;NAP1BP;SSH3BP;SSH3BP1 Abelson interactor 1;Abl-interactor protein 1 long;OTTHUMP00000019348;OTTHUMP00000019349;OTTHUMP00000019350;OTTHUMP00000019351;OTTHUMP00000019352;OTTHUMP00000019353;OTTHUMP00000019354;OTTHUMP00000019355;abl interactor 1;abl-binding protein 4;eps8 SH3 domain-binding protein;eps8 binding protein;eps8-binding protein;interactor protein AblBP4;nap1 binding protein;nap1-binding protein;spectrin SH3 domain binding protein 1;spectrin SH3 domain-binding protein 1 APPROVED protein-coding ENSG00000136754 HGNC:11320 04336 603050 REVIEWED 1313870 ABHD8 abhydrolase domain containing 8 This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008] 19 19 19 p13.11 17304682 17316010 - 17402940 17414282 - 17292131 17303473 - 737633;1580863;6480464 12477932 14702039;15489334;16344560;20852631;8125298 79575 B2C6G3;M0QX40;M0QZA8;Q96I13 ABBA01051191;ABBA01051192;AC010463;AK021805;AK225140;AK225340;AK298251;AK315366;AMYH02035701;AMYH02035702;BC007895;BC011536;BC020173;BC039087;CH471106;DA137174;DA357595;EU285559;NM_024527 AAH07895;AAH20173;AAH39087;ABZ79723;BAB13900;BAG37759;BAG60516;EAW84589;NP_078803;Q96I13 Hs.515664 2218968 ABHD8__4234 FLJ11743;MGC14280;MGC2512 abhydrolase domain-containing protein 8 APPROVED protein-coding ENSG00000127220 HGNC:23759 12409 VALIDATED 1353143 ABI2 abl-interactor 2 ENCODES a protein that exhibits proline-rich region binding; protein complex binding; Rac GTPase binding; INVOLVED IN cellular component movement; peptidyl-tyrosine phosphorylation; positive regulation of Arp2/3 complex-mediated actin nucleation; FOUND IN cytosol; filopodium; lamellipodium; INTERACTS WITH all-trans-retinoic acid; arsenous acid; benzo[a]pyrene diol epoxide I 2 2 2 q33 197986427 198051711 + 204192597 204296892 + 203327874 203432173 + 1580863;6480464 10498863;10858458;10964520;10995551;11516653;12011975;12463424;12477932;12569093;14702039;15146197;15489334;15509564;16189514;16344560;16488906;17043677;17101133;17389688;17903303;18632609;19158278;19523119;21139048;21862451;22094256;22304832;22505724;22745667;22863883;23000965;23444366;24816145;7590236;8649853 10152 B7Z836;E7EP65;E7EUA1;E7EW77;E9PEZ7;F8WAL6;F8WAQ3;F8WAU3;F8WAZ8;F8WBL5;F8WCD7;F8WEB9;H0Y6B5;H7C3Q7;J3KNB2;Q9NYB9 ABBA01062610;ABBA01062611;ABBA01062612;AC018891;AC080075;AF085867;AF260261;AK054863;AK294429;AK297537;AK299092;AK299672;AK299679;AK299688;AK299750;AK299824;AK302853;AK316000;AK316343;AMYH02005594;AMYH02005595;AMYH02005596;AMYH02005597;BC001439;BC033944;BT009920;CH471063;CN371368;DA693234;DB455742;DC376086;NM_001282925;NM_001282926;NM_001282927;NM_001282932;NM_005759;R61525;U23435;U31089;X95632;XM_005246217;XM_005246218;XM_005246221;XM_005246222;XM_005246223;XM_005246224;XM_005246225;XM_005246226;XM_005246229;XM_006712174;XM_006712175;XM_006712176;XM_006712177;XM_006712178;XM_006712179;XM_006712180;XM_006712181;XM_006712182;XM_006712183;XM_006712184;XM_006712185;XM_006712186 AAA75446;AAA92289;AAF70308;AAH01439;AAP88922;AAY14675;AAY14935;ABM81661;ABM84833;BAG57674;BAG59937;BAG61587;BAG61640;BAG61693;BAH12947;BAH13098;BAH13103;BAH13822;BAH14371;BAH14714;CAA64885;EAW70335;EAW70336;EAW70337;EAW70338;EAW70339;EAW70340;EAW70341;EAW70342;EAW70343;NP_001269854;NP_001269855;NP_001269856;NP_001269861;NP_005750;Q9NYB9;XP_005246274;XP_005246275;XP_005246278;XP_005246279;XP_005246280;XP_005246281;XP_005246282;XP_005246283;XP_005246286;XP_006712237;XP_006712238;XP_006712239;XP_006712240;XP_006712241;XP_006712242;XP_006712243;XP_006712244;XP_006712245;XP_006712246;XP_006712247;XP_006712248;XP_006712249 Hs.471156 1657846;1665404;1677694;1727213;1728859;1760785;2109019;2146492;2162333;5022578 ABI2_9049;D1S1423;G54499;G62861;RH68335;RH79129;RH93388;SHGC-144302;SHGC-14739;SHGC-62017 ABI-2;ABI2B;AIP-1;AblBP3;SSH3BP2;argBP1 OTTHUMP00000163783;OTTHUMP00000163784;OTTHUMP00000206182;OTTHUMP00000206183;OTTHUMP00000206184;OTTHUMP00000206185;abelson interactor 2;abl binding protein 3;abl interactor 2;abl-binding protein 3;abl-interacting protein 1 (SH3-containing protein);abl-interactor protein 2b;arg protein tyrosine kinase-binding protein;arg-binding protein 1;argBPIA;argBPIB protein-coding ENSG00000138443 HGNC:24011 606442 VALIDATED 1323432 ABI3 ABI family, member 3 This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 17 17 17 q21.3 43742068 43755066 + 47287589 47300587 + 49210227 49223225 + 6480464;8554872 10978530;11076863;11230166;11256614;11501947;11956071;12011975;12477932;15489334;15489336;16189514;16381901;17101133;19060904;19946888;21223585;23382691;23535732 51225 I3L1X2;I3L3W4;Q9P2A4 AA808681;AB037886;ABBA01041192;ABBA01041193;AC004797;AC069454;AL136709;AMYH02033562;BC007780;BI768790;CH471109;NM_001135186;NM_016428;XM_005257429 AAH07780;ABM84016;ABM87361;BAA90667;CAB66644;CAL37657;CAL37800;EAW94687;NP_001128658;NP_057512;Q9P2A4;XP_005257486 Hs.130719 NESH;SSH3BP3 ABI gene family member 3;ABI gene family, member 3;OTTHUMP00000220013;OTTHUMP00000220014;new molecule including SH3 APPROVED protein-coding ENSG00000108798 HGNC:29859 05900 606363 REVIEWED 1349467 ABI3BP ABI family, member 3 (NESH) binding protein ENCODES a protein that exhibits collagen binding (inferred); heparin binding (inferred); INVOLVED IN extracellular matrix organization (inferred); positive regulation of cell-substrate adhesion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular matrix; extracellular space; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; chromium atom 3 3 3 q12 98859820 99104005 - 100468179 100712336 - 100749335 100993492 - 6480464;8554872 11501947;12477932;14702039;15489334;15752759;16205947;16344560;17314511;18559958;19240061;19338757;20936779;21041247;21988832;22952844;23829686;24236485;24442417 25890 B4DSV9;D3YTG3;E9PPR9;E9PRB5;H0Y897;H0YCG4;H0YCP4;H0YDN0;H0YDW0;H0YEA0;H0YEL2;H0YF18;H0YF57;H7C4H3;H7C4N5;H7C4S3;H7C4T1;H7C4X4;H7C524;H7C556;H7C5S3;Q5JPC9;Q7Z7G0 AB056106;ABBA01061780;ABBA01061781;ABBA01061782;ABBA01061783;ABBA01061784;ABBA01061785;ABBA01061786;AC068763;AC069223;AC080014;AC093009;AC106721;AK025204;AK093861;AK123737;AK123748;AK299938;AL117664;AL162038;AL833204;AMYH02007306;AMYH02007307;AMYH02007308;AMYH02007309;BC030221;BX648726;CH471052;DA342832;NM_015429;XM_005247281;XM_005247282;XM_005247283;XM_005247284;XM_005247285;XM_005247286;XM_005247287;XM_005247288;XM_005247289;XM_005247290;XM_005247291;XM_005247293;XM_005247294;XM_005247295;XM_005247296;XM_005247297;XM_005247298;XM_005247299;XM_005247300;XM_005247301;XM_005247302;XM_005247303;XM_005247305;XM_005247306;XM_005247307;XM_005247308;XM_005247309;XM_005247310;XM_005247311;XM_005247312;XM_005247313;XM_005247314;XM_005247315;XM_005247316;XM_005247317;XM_005247318;XM_006713568;XM_006713569;XM_006713570;XM_006713571;XM_006713572;XM_006713573;XM_006713574;XM_006713575;XM_006713576 AAH30221;ACE86781;ACE87467;BAB15083;BAB32867;BAC85685;BAC85687;BAG52776;BAG61771;CAB56034;CAI46190;EAW79804;EAW79805;EAW79806;EAW79807;EAW79808;EAW79809;EAW79810;EAW79811;NP_056244;Q7Z7G0;XP_005247338;XP_005247339;XP_005247340;XP_005247341;XP_005247342;XP_005247343;XP_005247344;XP_005247345;XP_005247346;XP_005247347;XP_005247348;XP_005247350;XP_005247351;XP_005247352;XP_005247353;XP_005247354;XP_005247355;XP_005247356;XP_005247357;XP_005247358;XP_005247359;XP_005247360;XP_005247362;XP_005247363;XP_005247364;XP_005247365;XP_005247366;XP_005247367;XP_005247368;XP_005247369;XP_005247370;XP_005247371;XP_005247372;XP_005247373;XP_005247374;XP_005247375;XP_006713631;XP_006713632;XP_006713633;XP_006713634;XP_006713635;XP_006713636;XP_006713637;XP_006713638;XP_006713639 Hs.477015 1654748;1659349;1704584;1715791;1750157;2109921;2118113;2146011;2166971;2175154;5022200;5037552;5094430 D3S3966;D3S4006;D8S2279;G54792;L18426;RH119344;SHGC-112259;SHGC-36323;SHGC-57683;SHGC-77160;SHGC-77161;SHGC-83101;TARSH_9425 FLJ41743;FLJ41754;NESHBP;TARSH ABI gene family member 3-binding protein;ABI gene family, member 3 (NESH) binding protein;OTTHUMP00000214054;nesh-binding protein;target of Nesh-SH3 protein-coding ENSG00000154175 HGNC:17265 09380 606279 VALIDATED 1352263 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 1 1 1 q25.2 152177312 152307714 - 179068462 179198819 - 179099327 179229684 - 1580863;6480464;6907045;8554872 10521789;10590083;10706884;10892742;11278261;11494128;11956190;12198159;12220663;12374288;12406085;12477932;12522270;12569093;12748290;12777400;12893824;12950161;1383690;14702039;15489334;15679048;15729383;15735735;15765532;15886098;16273093;16344560;16678104;16710414;16751776;16964398;17081983;17192257;17474147;17910947;18067320;18330356;18660502;18810762;19275932;19380743;19913121;19953087;20077570;20150913;20448119;20467438;20628086;20800603;20936779;21257711;21543883;21892207;2198571;21988832;22036096;22777352;22974441;23552693;23648710;23707396;25036637;3787260;8125298;8700546;8875975;9211900;9480911;9642287;9774693 27 P42684 ABBA01027819;ABBA01027820;ABBA01027821;ABBA01027822;ABBA01027823;ABBA01027824;AK025877;AK056280;AK225255;AK309549;AK311045;AL139132;AL359179;AL512326;AMYH02002228;AMYH02002229;BC065912;BQ014912;BX538317;CH471067;DA596675;DB280398;DQ009672;FJ542283;FJ542284;FJ542285;FJ542286;M14904;M35296;NG_028242;NM_001136000;NM_001136001;NM_001168236;NM_001168237;NM_001168238;NM_001168239;NM_005158;NM_007314;XM_005245088 AAA35553;AAH65912;AAY16984;ACK76601;ACK76602;ACK76603;ACK76604;CAD98092;EAW91040;EAW91041;NP_001129472;NP_001129473;NP_001161708;NP_001161709;NP_001161710;NP_001161711;NP_005149;NP_009298;P42684;XP_005245145 Hs.159472 1649128;1652365;1652367;1659077;1701674;1708152;1771838;1795280;2134124;2146281;5015619;5015861;5016478;5021872;5022200;5022578;5024039;5114087;7185938 A005M30;ABL2_197;D10S16;D11S3114;D16S325;D1S1423;G20336;GDB:434012;L18426;RH104509;RH66836;RH69130;SGC38261;SHGC-75958;SHGC-75959;SHGC-75998;SHGC-79323;sY3084 ABLL;ARG;FLJ22224;FLJ31718;FLJ41441 Abelson murine leukemia viral (v-abl) oncogene homolog 2;Abelson tyrosine-protein kinase 2;Abelson-related;OTTHUMP00000033139;OTTHUMP00000033140;OTTHUMP00000218101;OTTHUMP00000218102;OTTHUMP00000218103;OTTHUMP00000218104;OTTHUMP00000218105;OTTHUMP00000218106;OTTHUMP00000218107;OTTHUMP00000218108;OTTHUMP00000240781;abelson murine leukemia viral oncogene homolog 2;abelson-related gene protein;arg tyrosine kinase;c-abl oncogene 2, non-receptor tyrosine kinase;tyrosine-protein kinase ABL2;tyrosine-protein kinase ARG;v-abl Abelson murine leukemia viral oncogene homolog 2;v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) 2292936;2293000 PRSTS117_H;PRSTS118_H APPROVED protein-coding ENSG00000143322 HGNC:77 01259 164690 REVIEWED 1342972 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014] 9 9 9 q34.1 104127800 104301349 + 133588266 133763062 + 130713881 130887675 + 1580863;1598673;6480464;6484113;6907045;8693571;8693572;8662965;8699517;8693409;8693418;8693592;8693570 15629889;18559370;19700222;20679336;20823226;20883783;24412932;3021820 10187839;10194451;10212258;10372803;10391249;10391250;10391251;10455176;10488096;10567556;10571082;10574931;10608806;10629029;10635328;10637231;10679771;10688886;10708759;10713716;10753870;10777567;10829062;10837221;10849448;10892742;10896159;10945997;10967110;10970852;10988075;11021760;11024037;11071635;11120811;11121037;11163214;11266449;11278340;11279131;11309382;11350980;11374898;11375976;11380621;11390389;11418237;11420673;11423618;11431473;11494128;11494134;11509666;11593427;11598012;11708318;11741929;11779715;11780146;11781820;11790798;11827972;11840343;11853795;11891774;11955625;11956190;11971963;12021275;12024016;12107171;12110584;12130510;12130516;12138893;12144533;12149456;12167702;12198159;12220663;12374288;12374739;12379115;12379650;12384576;12393636;12408765;12445832;12468540;12475393;12477932;12505259;12522270;12525554;12543778;12556557;12560071;12569093;12573241;12623848;12626632;12637538;12650908;12654250;12663457;12665579;12672821;12681507;12764153;12777393;12777400;12781448;12810679;1281542;12824179;12890867;12893824;12921956;12928501;12944467;12950161;12952226;1379745;1383690;14527680;14534537;14581377;14604282;14657955;14670960;14679214;14708008;14725908;14745431;14966468;14993251;1505033;15143187;15175272;15361874;1538749;15481444;15542838;15556646;15583852;15588985;15591787;15608616;15626746;15657060;15657136;15661746;15686624;15696159;1571536;15716990;15723338;15735728;15735735;15857938;15886098;15923648;15937340;15961388;16014719;16091742;16135792;16151465;16158059;16199863;16205638;16219545;16273093;16386788;16410245;16448696;16543148;16630659;16636310;16648821;16678104;16723087;16831423;16867995;16888623;16899465;16912036;16955467;16966279;16998483;17081983;17101133;17126298;1712671;17129785;17160020;17192257;17196995;17237826;17252009;17254966;17268511;17303698;17339230;17347407;17349636;17352427;17366548;17374743;17409407;17470729;17470736;17474147;17486070;17525531;17541395;17570524;17579186;17587335;17597804;17599053;17604596;17620332;17623672;17626041;17638918;17695727;17710227;17761812;17762503;17764157;17768119;17804707;17888034;17889935;17893873;17925491;17928051;17943163;17956664;17972958;18029348;18036399;18059481;18067320;18070606;18082628;18089786;18095154;18155796;18161990;18180382;18235045;18262060;18280240;18287094;18305217;18305550;18328268;18339898;18362889;18369471;18391983;18401414;18406870;18413724;18427551;18480060;18480061;18490454;18538733;18546844;18559503;1857987;18603549;18614052;18619508;1868241;18687796;18704194;18765637;18771174;18775312;18784740;18794796;18809728;18827185;18835194;18936177;18950845;19001122;19016792;19020542;19048492;19052872;19061839;19075013;19108887;19124506;19135771;19156526;19180499;19203793;19234221;19260121;19261608;19275932;19285032;19290927;19295548;19332026;19357699;19363261;19369965;19380743;19383348;19423701;19427856;19442657;19531213;19542604;19557636;19571320;19608682;19625707;19643477;19652056;19657362;19658100;19660459;19679652;19697154;19724931;19738611;19768693;19789182;19818398;19823681;19829692;19833721;19876398;19891780;19897486;19906645;19914245;19931180;19953087;19954044;19968720;20007699;20010464;20038234;20056178;20073070;20079431;20082857;20124512;20152788;20201926;20234815;20367437;20425353;20452982;20453000;20482842;20512393;20563669;20581864;20585028;20585556;20595523;20598684;20629032;20633771;20675402;20697350;20697894;20717963;20724541;20798688;20861316;20863169;20937825;20974687;21045136;21071472;21072043;21129254;21156844;21183952;21203397;21209200;21220745;21221851;21239056;21248063;21266020;21320496;21321929;21368377;21388681;21435002;21454413;21455220;21461967;21480391;21504383;21527514;21591355;2163052;21641753;21674858;21693657;21694468;21715626;21764785;21781306;2179820;2183353;21888027;21892207;21900237;21903771;2193202;21935931;21960589;21961412;21998569;22001646;22014333;22038725;22054731;22089930;22140458;22184410;22231445;22233112;22238610;22252550;22311485;22314255;22327125;22327338;22334513;22378042;22380496;22447844;22454521;22462553;22471662;22526369;22590567;22591684;22593461;22632162;22649097;22665066;22693568;22733220;22782217;22783572;22787435;22833565;22847163;22865780;22870928;22879933;22939624;22939629;22952603;22957062;22974441;22976291;22988030;23009571;23044928;23053188;23062104;23062378;23065514;23087049;23117882;23124138;23130349;23146907;23171811;23201011;23207522;23223358;23269583;23277196;23287430;23289360;23289634;23303187;23316053;23318434;23319661;23325923;23383002;23428668;23433665;23448894;23458731;23513809;23575066;23602568;23667855;23691243;23716543;23723070;23740246;23749639;23788109;23799845;23831022;23840065;23842646;23852372;23872305;23892407;23894305;23928308;23934627;23950177;23959873;23974192;23980151;24041959;24112389;24140708;24177958;24190424;24223753;24262285;24269846;24317448;24392933;24421390;24456693;24550512;24775308;24779036;24856998;24891505;24903628;25036192;25045550;25068103;25074247;25248240;2542016;2678002;2687768;2825022;2989692;2989703;3021337;3023859;3313010;3471171;4062888;6191223;6281890;6302194;6316147;6319012;6323103;7493940;7512963;7533294;7545908;7565761;7590236;7665185;7760813;7780740;7828850;7892170;7926767;7968380;8112292;8114715;8194526;8242749;8294442;8438166;8453102;8524328;8590002;8626527;8626543;8629002;8630736;8668148;8668151;8692915;8810278;8875975;8879209;8943360;8978305;9006901;9008161;9010225;9037071;9067577;9071815;9111318;9144171;9168116;9168117;9174058;9195915;9211900;9312071;9315092;9334312;9356459;9407116;9461559;9478921;9480911;9516488;9583676;9593709;9603926;9632734;9632788;9642287;9698566;9710592;9747873;9774693;9798959;9820532;9822717;9872323;9949177 25 P00519;Q13688;Q59FK4;R4GRW0 AA524892;AB209456;AB209642;ABBA01012061;ABBA01012062;ABBA01012063;ABBA01012064;ABBA01012065;ABBA01012066;ABBA01012067;AI458416;AK294983;AL161733;AL359092;AL707819;AMYH02021770;AMYH02021771;AMYH02021772;AMYH02021773;AMYH02021774;AMYH02021775;BC107069;BC107070;BC117451;CA335983;CH471090;DQ145721;FJ785401;JF272500;JX565024;JX565025;K00009;M14752;M14753;M14754;M25949;M30833;NG_012034;NM_005157;NM_007313;S69223;U07563;X16416;X51945 AAA35593;AAA51561;AAA51562;AAA51563;AAA51895;AAA88011;AAA88012;AAB60393;AAB60394;AAD14034;AAI07070;AAI07071;AAI17452;AAZ38718;ACN82441;ADX30694;AFV09100;AFV09101;BAD92693;BAD92879;BAG58052;CAA34438;EAW87947;EAW87948;EAW87949;NP_005148;NP_009297;P00519 Hs.431048 1677344;1699810;1741183;1741185;1741553;1793278;1850251;2106941;2119400;2131484;2147020;5017629;5093008;5119529 A009E06;ABL1_685.2;BCR;G29321;G32466;GDB:177067;GDB:178527;GDB:178528;GDB:181505;PMC20354P4;RH103512;RH69429;RH80013;WI-12399 ABL;JTK7;bcr/abl;c-ABL;c-ABL1;p150;v-abl Abelson tyrosine-protein kinase 1;OTTHUMP00000022375;OTTHUMP00000022376;bcr/c-abl oncogene protein;c-abl oncogene 1, non-receptor tyrosine kinase;c-abl oncogene 1, receptor tyrosine kinase;proto-oncogene c-Abl;proto-oncogene tyrosine-protein kinase ABL1;tyrosine-protein kinase ABL1;v-abl Abelson murine leukemia viral oncogene homolog 1 APPROVED protein-coding ENSG00000097007 HGNC:76 01809 189980 REVIEWED 1346152 ABLIM1 actin binding LIM protein 1 This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q25 109920119 110173614 - 116190869 116444762 - 114431110 114768609 - 1580863;6480464;8554872 12168954;12477932;14702039;15024025;15144186;15302935;15324660;15489334;15570572;15592455;15778465;16094384;16189514;16385451;16712791;17081983;17194709;17979178;20549515;20936779;20970119;21139048;21547531;21832049;22219177;23000965;23251661;24255178;24337577;24457600;7566098;7584044;8889548;9245787;9417918 3983 B3KSG3;B3KVH2;B4DQA3;B7Z4H1;F6XFR5;F8W8M4;H0Y3K7;H0Y7N6;J3QSX6;O14639;Q5JVV3;Q5T6N2;Q5T6N4 AA314019;ABBA01062975;ABBA01062976;ABBA01062977;ABBA01062978;AF005654;AI680726;AK054890;AK057834;AK058007;AK093471;AK098277;AK122891;AK297344;AK298709;AL133384;AL137025;AL354873;AL590109;AL600892;AL710059;AL712271;AMYH02023852;AMYH02023853;AMYH02023854;AMYH02023855;AW627433;BC002448;BE395092;BE672277;BG426037;BQ721521;CA450184;CB128609;CD558045;CH471066;CR749819;D31883;NG_029872;NM_001003407;NM_001003408;NM_002313;NM_006720;XM_005269818;XM_005269819;XM_005269820;XM_005269821;XM_005269822;XM_005269823;XM_005269824;XM_005269825;XM_005269826;XM_005269827;XM_005269828;XM_005269830;XM_006717837;XM_006717838;XM_006717839;XM_006717840;XM_006717841;XM_006717842;XM_006717843;XM_006717844;XM_006717845;XM_006717846;XM_006717847;XM_006717848 AAC51676;AAH02448;BAA06681;BAG52725;BAG53605;BAG53784;BAG60865;BAH12557;CAH18679;EAW49467;EAW49468;EAW49469;NP_001003407;NP_001003408;NP_002304;NP_006711;O14639;XP_005269875;XP_005269876;XP_005269877;XP_005269878;XP_005269879;XP_005269880;XP_005269881;XP_005269882;XP_005269883;XP_005269884;XP_005269885;XP_005269887;XP_006717900;XP_006717901;XP_006717902;XP_006717903;XP_006717904;XP_006717905;XP_006717906;XP_006717907;XP_006717908;XP_006717909;XP_006717910;XP_006717911 Hs.438236;Hs.538331;Hs.593868 1337480;1657654;1660875;1666337;1670114;1678619;1715633;1724745;1736016;1762207;1762883;1772270;2132510;2143472;2181155;2181157;5015961 D10S1158;D10S1298E;D10S1336E;D10S2292;D15S1477;G15970;RH119261;RH122579;RH25292;RH44627;RH66528;RH91180;SGC30280;SHGC-146082;SHGC-146643;SHGC-35224;SHGC-53066 DKFZp781D0148;FLJ14564;KIAA0059;LIMAB1;MGC1224;abLIM-1 ABLIM;LIM actin-binding protein 1;LIMATIN;OTTHUMP00000020530;OTTHUMP00000020531;OTTHUMP00000020532;OTTHUMP00000020533;OTTHUMP00000020534;OTTHUMP00000020535;OTTHUMP00000020536;OTTHUMP00000020537;actin-binding LIM protein 1;actin-binding LIM protein family member 1;actin-binding double zinc finger protein;actin-binding double-zinc-finger protein APPROVED protein-coding ENSG00000099204 HGNC:78 03819 602330 REVIEWED 1349528 ABLIM2 actin binding LIM protein family, member 2 ENCODES a protein that exhibits actin binding (inferred); zinc ion binding (inferred); INVOLVED IN actin cytoskeleton organization (inferred); axon guidance (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN actin cytoskeleton; INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 4 4 4 p16.1 7868198 8052469 - 7967037 8160559 - 7965310 8158832 - 6480464;8554872 10737800;11347906;12477932;14702039;15489334;16005990;16344560;17194709;18029348;20379614;20936779;24250222;8889548;9847074 84448 D6RAL0;F5GYR0;Q6H8Q1 AB058711;ABBA01008684;ABBA01008685;ABBA01008686;ABBA01008687;ABBA01008688;AC097381;AC104650;AC114807;AJ748600;AJ748601;AK094754;AK094798;AK097003;AK130044;AK301060;AL834195;AMYH02008692;AMYH02008693;AMYH02008694;AMYH02008695;BC067214;BC122567;BE155865;BM718728;BQ005420;BQ267829;CH471131;DA392726;DB499366;DB570494;DQ413176;DQ413177;KF457731;NM_001130083;NM_001130084;NM_001130085;NM_001130086;NM_001130087;NM_001130088;NM_001286688;NM_032432;XM_005248014;XM_005248015;XM_005248016;XM_005248017;XM_005248018;XM_005248019;XM_005248020;XM_005248021;XM_005248022;XM_005248023;XM_005248024;XM_005248025;XM_005248026;XM_005248027;XM_005248028;XM_005248029;XM_005248030;XM_005248031;XM_006713921;XM_006713922;XM_006713923;XM_006713924;XM_006713925;XM_006713926;XM_006713927 AAH67214;AAI22568;AAY40931;ABD83329;ABD83330;BAB47437;BAC04414;BAC04427;BAC85284;BAH13400;CAD38885;CAG38375;CAG38376;EAW82357;EAW82358;NP_001123555;NP_001123556;NP_001123557;NP_001123558;NP_001123559;NP_001123560;NP_001273617;NP_115808;Q6H8Q1;XP_005248071;XP_005248072;XP_005248073;XP_005248074;XP_005248075;XP_005248076;XP_005248077;XP_005248078;XP_005248079;XP_005248080;XP_005248081;XP_005248082;XP_005248083;XP_005248084;XP_005248085;XP_005248086;XP_005248087;XP_005248088;XP_006713984;XP_006713985;XP_006713986;XP_006713987;XP_006713988;XP_006713989;XP_006713990 Hs.233404 1646720;1663717;1666646;1666648;1676762;1695092;1752597;1756579;1762609;1762807;1765173;1780072;1791994;1851383;2169573;2185501;5037552 D4S1080;D4S2720;D4S658;D8S2279;G31621;PMC134465P1;RH75474;SHGC-106487;SHGC-143614;SHGC-146415;SHGC-146585;SHGC-148684;SHGC-154324;SHGC-24205;SHGC-51226;SHGC-59833;SHGC-67378 DKFZp761F129;FLJ26534;FLJ39684;KIAA1808;MGC141918 OTTHUMP00000217347;OTTHUMP00000217348;OTTHUMP00000217356;OTTHUMP00000217357;OTTHUMP00000219315;OTTHUMP00000219317;OTTHUMP00000219318;abLIM-2;actin binding LIM protein 2;actin-binding LIM protein 2;actin-binding LIM protein family member 2 protein-coding ENSG00000163995 HGNC:19195 612544 VALIDATED 1354406 ABLIM3 actin binding LIM protein family, member 3 The LIM domain is a double zinc finger structure that promotes protein-protein interactions. LIM domain proteins, such as ABLIM3, play roles in embryonic development, cell lineage determination, and cancer (Krupp et al., 2006 [PubMed 16328021]).[supplied by OMIM, Mar 2008] 5 5 5 q32 144603161 144721993 + 148521054 148640002 + 149141491 149260439 + 1580863;6480464;8554872 10048485;11076863;11230166;12477932;15221005;15337165;15342556;15489334;15489336;16328021;16381901;17081983;17194709;8125298 22885 D6RHE7;O94929 AB020650;AB075881;ABBA01026307;ABBA01026308;ABBA01026309;ABBA01026310;AC012613;AC091940;AK098469;AK225769;AK289736;AL833021;AMYH02012441;BC001665;BC014463;BP285049;CH471062;DA669720;DQ413174;NM_001301015;NM_001301018;NM_001301027;NM_001301028;NM_014945;XM_005268392;XM_005268393;XM_005268394;XM_005268395;XM_005268396;XM_006714763;XM_006714764 AAH01665;ABD83327;BAA74866;BAD38663;BAF82425;CAH56270;CAL37473;CAL37581;CAL37722;CAL37724;CAL37743;CAL37768;CAL37808;CAL37810;CAL37841;CAL37876;CAL37977;CAL37979;CAL37994;CAL38031;CAL38039;CAL38101;CAL38162;CAL38196;CAL38279;CAL38283;CAL38290;CAL38300;CAL38309;CAL38401;CAL38431;CAL38436;CAL38440;CAL38531;CAL38534;CAL38558;CAL38598;CAL38631;CAL38632;CAL38668;CAL38695;EAW61788;EAW61789;EAW61790;EAW61791;EAW61792;NP_001287944;NP_001287947;NP_001287956;NP_001287957;NP_055760;O94929;XP_005268449;XP_005268450;XP_005268451;XP_005268452;XP_005268453;XP_006714826;XP_006714827 Hs.49688 1693820;1714293;1772429;1780606;2123354;2135616;2145385;2218172 ABLIM3__4236;D18S491;D5S1897;G16917;L28244;RH119927;SHGC-56609;bac51369T HMFN1661 OTTHUMP00000160385;OTTHUMP00000223934;OTTHUMP00000223936;OTTHUMP00000223937;OTTHUMP00000223938;abLIM-3;actin-binding LIM protein 3;actin-binding LIM protein family member 3 APPROVED protein-coding ENSG00000173210 HGNC:29132 12411 611305 VALIDATED 730884 ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34.2 106672476 106692536 - 136130563 136150630 - 133255176 133275214 - 1580863;2317512;2317510;5128834;2317511;5128835;5128831;5128832;5128833;5128836;6480464;6907045;2307071 15784866;16008680;18988797;19771478;20103627;20181960;2142987;6189297;7795450;9036208 10462501;10666229;11061869;11345596;11398963;11436564;11520811;11856466;11939260;11961233;11998221;12151392;12198488;12477932;12519432;12529355;12560669;12587416;12673421;12760254;12786998;12829588;1429528;1449469;14516453;14569463;14617382;14750174;14979340;15009807;15104652;15166945;1520322;15300625;15606555;15648786;15735796;15751650;15754970;15783300;15819453;15819691;15847653;15880137;15987364;16081582;16176058;16181218;16215642;16239542;16403294;16631357;16686845;16686846;16722361;16859949;16871363;16956829;17002642;17036929;17076855;17107352;17119126;17130965;17140342;17209060;17259183;17298125;17311872;17393014;17531777;17642512;17764507;17994314;18003641;18027815;18028481;18063521;18067076;18067502;18078207;18156754;18173836;18215251;18247104;18273824;18387978;184030;18426679;18464913;18521502;18600088;18604267;18651204;18680548;18712158;18940312;18976975;19054377;19078892;19110300;19169360;19276450;19278955;19470260;19474452;19490215;19648918;19729612;19913121;20003128;20017223;20066004;20139978;20147318;20154292;20167578;20197725;20231535;20371059;20373852;20456702;20459687;20514537;20529992;20532885;20576794;20628086;20648472;20666915;20677133;20686565;20703243;20971884;2104827;2104828;21070754;21144789;2121736;21239051;21306478;21378990;21502573;21533024;21560847;21729554;21841780;21886157;21909109;21980494;22001757;22010135;22125638;22258027;22291609;22387998;22642827;22664149;22672568;22703881;22895189;22963146;23056639;23222517;23251661;23267103;23300138;23300549;23319424;2333095;23381943;23382263;23387832;23408906;23521133;23560502;23612905;23650146;23707316;23717212;24094242;24097068;24163370;24262325;24386095;24510570;4831223;4831233;5442829;618875;6770676;7488159;7598760;7772867;7779106;8456556;8484250;8641696;8839869;8873422;8928487;9175793;9325321;9800297 28 P16442;Q9UQ67 AB052641;AB052642;AB052643;AB052644;AB052650;AB052651;AB180254;AB180256;AB180257;AB180258;AB180259;AB180260;AB180261;AB180262;AB180263;AB180264;AB180265;AB180266;AB180267;AB180268;ABBA01032466;AC000397;AF006673;AF016622;AF016624;AF016625;AF062486;AF062487;AF134412;AF134413;AF134414;AF134415;AF134416;AF170888;AF170889;AF170890;AF170892;AF170893;AF324006;AF324007;AF324008;AF324009;AF324010;AF324011;AF324012;AF324013;AF324014;AF324015;AF324016;AF324017;AF324018;AF324019;AF324020;AF408431;AF448199;AF448200;AJ276686;AJ276687;AJ276688;AJ276689;AJ426048;AJ426063;AJ426064;AJ536122;AJ536123;AJ536124;AJ536125;AJ536126;AJ536127;AJ536128;AJ536129;AJ536130;AJ536131;AJ536132;AJ536134;AJ536135;AJ536136;AJ536137;AJ536138;AJ536139;AJ536148;AJ536150;AJ536152;AJ536153;AJ920329;AJ973608;AK302203;AL158826;AL732364;AL772161;AM040939;AM231715;AM423110;AM492698;AMYH02021824;AMYH02021825;AV761252;AX504953;AY268591;AY336599;AY373436;AY377125;AY442168;AY510089;AY512679;AY513233;AY579471;AY590127;AY611640;AY611641;AY727862;AY805749;AY805750;BC069595;BC069605;BC069814;BC111575;CH471090;D82835;D82836;D82837;D82838;D82839;D82840;D82841;D82842;D82843;D82844;D82845;DQ092379;DQ092380;DQ092381;DQ100313;DQ124678;DQ124679;DQ139865;DQ321372;DQ321373;DQ323500;DQ323501;DQ323502;DQ323503;DQ407740;EU366315;FJ599810;FJ851691;FJ851692;FR691751;FR691752;GU169167;GU169168;GU169169;GU169170;GU169171;GU169172;GU169173;GU199604;GU199605;GU592505;GU592506;GU592507;J05175;JN791441;JX398330;JX398331;JX398332;JX398333;JX519569;JX519570;NG_006669;NM_020469;S44054;U15197;U15198;U22302;X84746 AAA36792;AAB23167;AAB69195;AAB86462;AAB86464;AAB86465;AAC13777;AAC50121;AAC99327;AAC99328;AAD14781;AAD26572;AAD26573;AAD26574;AAD51648;AAD51649;AAD51650;AAD51651;AAD51652;AAH69595;AAH69814;AAI11576;AAL37338;AAL37339;AAL37340;AAL37341;AAL37342;AAL37343;AAL37344;AAL37345;AAL37346;AAL37347;AAL37348;AAL37349;AAL37350;AAL37351;AAL37352;AAN02512;AAP03430;AAP97075;AAQ04662;AAQ04663;AAR20996;AAR24575;AAR97889;AAR98522;AAS00500;AAS16482;AAT01605;AAT90439;AAU93390;AAW31606;AAW31607;AAX39008;AAX39009;AAY98421;AAY98422;AAY98423;AAZ28944;AAZ32763;AAZ32764;AAZ67147;ABC41115;ABC41116;ABC41117;ABC41118;ABC59309;ABC59310;ABD66591;ABY67384;ACN23166;ACP27632;ACP27633;ADP08988;ADP08989;ADP08990;ADP08991;ADP08992;ADP08993;ADP08994;ADP08995;ADP08996;ADP08997;ADP08998;ADP08999;AER42120;AFS31344;AFS31345;AFS31346;AFS31347;AFV30234;AFV30235;BAA11584;BAA11585;BAA11586;BAA11587;BAA11588;BAA11589;BAA11590;BAA11591;BAA11592;BAA11593;BAA11594;BAB32654;BAB32655;BAB32656;BAB32657;BAB32658;BAB32659;BAD20714;BAD20715;BAD20716;BAD20717;BAD20718;BAD20719;BAD20720;BAD20721;BAD20722;BAD20723;BAD20724;BAD20725;BAD20726;BAD20727;BAG63563;CAA59233;CAB81776;CAB81777;CAB81778;CAB81779;CAD19818;CAD19819;CAD22451;CAD48795;CAD60209;CAD60210;CAD60211;CAD60212;CAD60213;CAD60214;CAD60215;CAD60216;CAD60217;CAD60218;CAD60219;CAD60221;CAD60222;CAD60223;CAD60224;CAD60225;CAD60226;CAD60235;CAD60237;CAD60239;CAD60240;CAI79116;CAJ00555;CAJ13827;CAJ77763;CAM28424;CAM34526;CBX20982;CBX20983;EAW88054;NP_065202;P16442 Hs.654423 1741857;1744687;1745665;1793896;1793898;1793900;1793902 GDB:186120;GDB:551069;GDB:631751;PMC305365P1;PMC305365P2;PMC305365P3;PMC305365P4 A3GALNT;A3GALT1;GTB ABO A3 transferase;ABO glycosyltransferase;ABO weak transfer;B(A) alpha-1,3-galactosyltransferase;NAGAT;fucosylglycoprotein 3-alpha-galactosyltransferase;fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase;glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase;glycoprotein-fucosylgalactoside alpha-galactosyltransferase;histo-blood group A transferase;histo-blood group A2 transferase;histo-blood group ABO system transferase;histo-blood group B transferase APPROVED protein-coding ENSG00000175164 HGNC:79 05821 110300 REVIEWED 1314808 ABR active BCR-related This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012] 17 17 17 p13.3 918106 1102463 - 906758 1090616 - 1003518 1229630 - 1580863;6480464;8554872 11756498;11921339;12376548;12477932;12621583;12787561;14702039;15123239;15525470;16341674;16344560;16712791;17474147;19946888;20379614;20467438;21832049;21963094;22889411;22990118;23443559;2587217;7479768;7829075;8262969;8349582;8889548 29 B7Z2X0;B7Z683;B7Z7Z1;I3L0R7;I3L1U8;I3L259;I3L2C0;I3L2L3;I3L2P5;I3L379;I3L3W0;I3L434;I3L4Y1;I3NI05;Q12979;Q6ZT60 ABBA01054630;ABBA01054631;ABBA01054632;ABBA01054633;ABBA01054634;ABBA01054635;ABBA01054636;ABBA01054637;ABBA01054638;ABBA01054639;AC015884;AC016292;AC107911;AC144836;AC212841;AC226497;AI763107;AK094544;AK124547;AK126882;AK127851;AK295191;AK299909;AK300336;AK302682;AK307827;AL135250;AMYH02032726;AMYH02032727;AMYH02032728;BC036807;BC141909;BM827672;CB153196;CF135918;CH471108;DA106008;DA327723;DC308495;DC325032;DR003682;HY115199;HY132628;HY133863;KF456222;L19704;L19705;NG_011987;NM_001092;NM_001159746;NM_001256847;NM_001282149;NM_021962;U01147;XM_006721506;XM_006721507;XM_006721508;XM_006721509;XM_006721510;XM_006721511;XM_006721512;XM_006725292;XM_006725293;XM_006725294;XM_006725295;XM_006725296;XM_006725297 AAC37518;AAC37519;AAC50063;AAI56484;AAI72517;BAC86734;BAG54051;BAH12006;BAH13169;BAH13263;BAH13777;EAW90631;EAW90632;EAW90633;EAW90634;EAW90635;NP_001083;NP_001153218;NP_001243776;NP_001269078;NP_068781;Q12979;XP_006721569;XP_006721570;XP_006721571;XP_006721572;XP_006721573;XP_006721574;XP_006721575;XP_006725355;XP_006725356;XP_006725357;XP_006725358;XP_006725359;XP_006725360 Hs.159306 1336110;1339353;1339519;1689388;1710988;1734490;1744497;1758277;1758645;1783542;2128331;2145023;2169976 D17S1444E;D17S1529;D17S1840;D17S596;G11811;GDB:461131;RH46166;RH66671;SHGC-147890;SHGC-149018;SHGC-153854;SHGC-84866;WI-19743 FLJ45954;MDB OTTHUMP00000115362;active breakpoint cluster region-related protein APPROVED protein-coding ENSG00000159842 HGNC:81 02649 600365 REVIEWED 1603582 ABRA actin-binding Rho activating protein ENCODES a protein that exhibits actin binding (ortholog); INVOLVED IN positive regulation of Rho protein signal transduction (ortholog); positive regulation of sequence-specific DNA binding transcription factor activity (ortholog); FOUND IN plasma membrane; actin cytoskeleton (ortholog); sarcomere (ortholog); INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); all-trans-retinoic acid (ortholog) 8 8 8 q23.1 103958692 103969453 - 107771711 107782472 - 106759483 106770244 - 6480464 11076863;11230166;11256614;11983702;12477932;14702039;15489334;15489336;15798203;16381901;17194709;17415416;19255118;21486805;23259602;23753523 137735 Q8N0Z2 ABBA01037690;AC023344;AF503617;AK092694;AL832152;AL833422;AMYH02018576;BC105103;BC105105;CH471060;NM_139166 AAI05104;AAI05106;AAM27268;BAC03948;CAL37941;EAW91907;NP_631905;Q8N0Z2 Hs.374668 STARS OTTHUMP00000227583;actin-binding Rho-activating protein;striated muscle activator of Rho-dependent signaling protein-coding ENSG00000174429 HGNC:30655 11608 609747 VALIDATED 1351168 ABRACL ABRA C-terminal like INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 6 6 6 q24.1 140089868 140104496 + 139349819 139364439 + 139028682 139043302 + 6480464 11042152;12477932;12665801;15489334;15723814;20940261;21082705;21139048 58527 Q5SZC9;Q9P1F3 ABBA01025801;ABBA01025802;AF116682;AF161398;AL590308;AMYH02014592;BC014953;BG563686;CH471051;NM_021243 AAF28958;AAF71102;AAH14953;EAW47902;NP_067066;Q9P1F3 Hs.600861 C6orf115;HSPC280;PRO2013;RP11-501K14.2 ABRA C-terminal-like protein;Costars;OTTHUMP00000017303;costars family protein ABRACL;costars family protein C6orf115;hypothetical protein LOC58527 APPROVED protein-coding ENSG00000146386 HGNC:21230 VALIDATED 5013939 ABT1P1 activator of basal transcription 1 pseudogene 1 4 4 4 97240941 97241755 - 99943465 99944279 - 99022314 99023128 - 100420695 ABBA01063668;AC019131;AMYH02009795;NG_025142 1686608 RH91583 pseudo HGNC:39557 INFERRED 1321888 ABT1 activator of basal transcription 1 Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008] 6 6 6 p22.2 27826511 27829609 + 26597171 26600278 + 26596943 26600050 + 1580863;6480464 10648625;11790298;12477932;14574404;15489334;15635413;18482256;19299493;21139048;21145461;21890473;23080069;24816145 29777 Q9ULW3 AB027258;ABBA01066559;AL513548;AMYH02013354;BC048812;BC066313;CH471087;CS300635;NM_013375 AAH48812;AAH66313;ABZ92324;BAA86886;CAK32299;EAW55591;EAW55592;EAW55593;NP_037507;Q9ULW3 Hs.254406 1668488;1679579;1686608;2109021;2128323 ABT1_3579;RH80034;RH91583;SHGC-52907;SHGC-64311 hABT1 OTTHUMP00000017935;TATA-binding protein-binding protein;basal transcriptional activator APPROVED protein-coding HGNC:17369 16469 REVIEWED 1349137 ABTB1 ankyrin repeat and BTB (POZ) domain containing 1 This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010] 3 3 3 q21 125818638 125826632 + 127391781 127399769 + 127672929 127680926 + 1580863;6480464 10891360;11494141;12477932;14702039;15231748;15489334;15498874;18029348;18429817;18459963;18976975;19930467;21145461;8889548 80325 F2Z3F5;H7C4W8;Q969K4 AB053324;AB053325;AB053326;ABBA01020884;AC023593;AF297986;AF447886;AI337369;AK090422;AK090509;AK098738;AK130594;AK315148;AMYH02007606;BC011858;BF664138;BM671027;CH471052;NG_029479;NM_032548;NM_172027;NR_033429;XM_006713768;XM_006713769;XM_006713770;XM_006713771;XM_006713772 AAH11858;AAK57478;AAQ04661;BAB55648;BAB55649;BAB55650;BAC03403;BAC85392;BAG37596;EAW79333;EAW79334;EAW79335;EAW79336;NP_115937;NP_742024;Q969K4;XP_006713831;XP_006713832;XP_006713833;XP_006713834;XP_006713835 Hs.107812 1734266;1740263;2126622;2160014 D3S1645;D3S2755E;SHGC-77302;WI-13950 BPOZ;BTBD21;Btb3;EF1ABP;MGC20585;PP2259 OTTHUMP00000216041;OTTHUMP00000216042;OTTHUMP00000216044;ankyrin repeat and BTB/POZ domain-containing protein 1;elongation factor 1A binding protein;elongation factor 1A-binding protein APPROVED protein-coding ENSG00000114626 HGNC:18275 10513 608308 REVIEWED 733617 ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 ENCODES a protein that exhibits protein heterodimerization activity (inferred); INVOLVED IN cellular response to toxic substance (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (-)-demecolcine; benzo[a]pyrene diol epoxide I; cisplatin 11 11 11 p13 34320078 34526769 - 34172534 34379555 - 34150987 34358008 - 1580863;6480464;8554872 12477932;14702039;15489334;18429817;18459963;20379614;21145461;21906983;23333304;24623842 25841 Q8N961 ABBA01060867;ABBA01060868;ABBA01060869;ABBA01060870;ABBA01060871;ABBA01060872;ABBA01060873;ABBA01060874;AC090469;AK056863;AK091560;AK095632;AK291744;AL035079;AL050374;AL133294;AL139174;AMYH02024577;AMYH02024578;AMYH02024579;AMYH02024580;AMYH02024581;BC093968;BX640841;CH471064;NM_145804 AAH93968;BAC03697;BAC04595;BAF84433;BAG51818;CAE45913;EAW68172;EAW68173;NP_665803;Q8N961 Hs.23361 1683421;1690678;1713739;1737737;2122742;2218718;7184001 ABTB2__4237;D11S3333;D11S4537;RH120755;RH92826;RH93895 ABTB2A;BTBD22;DKFZp586C1619 OTTHUMP00000232337;ankyrin repeat and BTB/POZ domain-containing protein 2 protein-coding ENSG00000166016 HGNC:23842 10624 VALIDATED 69012 ACAA1 acetyl-CoA acyltransferase 1 This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 3 3 3 p22.2 38100002 38114534 - 38164201 38178733 - 38122710 38137242 - 1300048;1580863;2313044;6480464;6907045 17632588 10231028;10960480;11418601;12477932;1347505;14621081;15489334;16385653;16756494;1679347;18029348;18281296;19423540;19913121;19946888;20406964;20438785;20628086;20877624;21048031;21890473;21988832;22151743;22939629;2318981;2365812;24816145;2630187;2726492;2882519;3194209;7750978;8619474;9053548;9110174;9427644 30 B4DVF4;B4E072;C9JDE9;F2Z2Q6;F2Z3P7;H0Y4D4;H7C131;P09110 ABBA01024827;AF035295;AK025138;AK127051;AK293716;AK301056;AK303251;AK316551;AMYH02006564;AP006309;BC000635;BC011977;BC014474;BC025780;BC039837;CH471055;DC312566;DC379687;NG_023225;NM_001130410;NM_001607;NR_024024;X12966;X14813;X51460;X65140;X65148;XM_006713122;XM_006713123 AAB88181;AAH00635;AAH11977;AAH14474;ABM82224;ABM84272;ABM85408;BAG57147;BAG62666;BAG64334;BAG65629;CAA31412;CAA32918;CAA35825;CAA46270;CAA46271;EAW64513;EAW64514;EAW64515;EAW64516;EAW64517;EAW64518;NP_001123882;NP_001598;P09110;XP_006713185;XP_006713186 Hs.643487 1712280;1741417;1768515;2106943;2136642;2141163;2185730;2186027;5020948;5109281 ACAA1_2845.2;D1S1425;D3S3102;D3S3932;D3S4185;G35510;G54049;GDB:181192;STS-X14813;WI-19140 ACAA;THIO 3-ketoacyl-CoA thiolase, peroxisomal;OTTHUMP00000209029;OTTHUMP00000209180;OTTHUMP00000209182;OTTHUMP00000209821;OTTHUMP00000209822;PTHIO;acetyl-Coenzyme A acyltransferase 1;beta-ketothiolase;peroxisomal 3-oxoacyl-CoA thiolase;peroxisomal 3-oxoacyl-Coenzyme A thiolase APPROVED protein-coding ENSG00000060971 HGNC:82 06815 604054 REVIEWED 733990 ACAA2 acetyl-CoA acyltransferase 2 The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008] 18 18 18 q21.1 44166539 44196918 - 47309874 47340306 - 49783504 49813881 - 1580863;2317624;6480464;6907045 11879205 10856712;12477932;14702039;15242332;15489334;18193044;18371312;20571754;20679960;20877624;20972250;21139048;21832049;22863883;22939629;23741361;23842279;24816145;25027693;8125298;8241273 10449 B3KNP8;K7EJ68;K7EJB1;K7EME0;K7ER88;P42765 ABBA01018664;ABBA01018665;AC090227;AK054673;AK093311;AK225457;AK314462;AMYH02034701;AX616391;BC001918;CH471096;D16294;NM_006111 AAH01918;ABM84302;ABM87696;BAA03800;BAG37070;BAG51410;CAD67660;EAW62950;EAW62951;EAW62952;EAW62953;EAW62954;EAW62955;EAW62956;NP_006102;P42765 Hs.200136 1679928;1754075;1775030;2131314;2136939;2147243;2154532;5017639 ACAA2;D18S1356;G35281;RH39218;SGC30718;SHGC-12898;SHGC-132113;SHGC-57883 FLJ35992;FLJ95265;T1 3-ketoacyl-CoA thiolase, mitochondrial;DSAEC;OTTHUMP00000163502;acetyl-Coenzyme A acyltransferase 2;beta ketothiolase;beta-ketothiolase;mitochondrial 3-oxoacyl-CoA thiolase;mitochondrial 3-oxoacyl-Coenzyme A thiolase APPROVED protein-coding HGNC:83 10380 604770 REVIEWED 736015 ACACA acetyl-CoA carboxylase alpha Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21 32264387 32589361 - 35441927 35766902 - 37367592 37368785 - 1580863;1300332;1625727;1300238;1300048;2317316;2317309;6480464;6907045;7240710;8699517;8554872 11735100;16485039;17882277;704404;734871 10677481;10737800;11052978;12360400;12477932;12810950;14643797;15302935;15333468;15607423;16169070;16326698;16698035;16713569;16794074;16806233;17081983;17372234;17521700;17620599;17631500;18031993;18056116;18303054;18452305;18455495;18480843;18487259;18614941;18614968;18660489;18678647;18996102;19061860;19343720;19380743;19543203;19710915;19720090;19723093;19738201;19842072;19846279;19913121;20139635;20379614;20431927;20457939;20562859;20602615;20628086;20877624;20965718;21139048;21344388;21471234;21638027;21642987;21726077;21890473;21906983;22238651;22268729;22505724;22586326;22863883;22939629;23000302;23181366;23383273;23455922;23535730;23886516;24457600;2900138;2900140;2906852;7732023;7905825;7907095;7915280;8944226 31 B2ZZ90;Q13085;Q59FY4;Q7Z5W8 AB209325;AB371587;ABBA01001371;ABBA01001372;ABBA01001373;ABBA01001374;ABBA01001375;ABBA01001376;ABBA01001377;ABBA01012436;ABBA01012437;ABBA01012438;ABBA01012439;ABBA01012440;ABBA01012441;ABBA01012442;AC003103;AC016482;AC068400;AC243628;AC243654;AC244093;AJ534888;AJ534889;AJ564444;AK129523;AK295586;AK295735;AK295805;AK296368;AK301579;AK308905;AK309084;AK309424;AK311329;AY237919;AY315616;AY315617;AY315618;AY315619;AY315620;AY315621;AY315622;AY315623;AY315624;AY315625;AY315626;AY315627;BC031485;BC041598;BC137287;BF154865;CF454424;CH471199;KF456271;NG_023295;NM_198834;NM_198836;NM_198837;NM_198838;NM_198839;U19822;XM_005257266;XM_005257267;XM_005257268;XM_006721853;XM_006725320;XM_006725321;XM_006725322;XR_424818;XR_429952;XR_430795;XR_433374 AAC50139;AAH31485;AAI37288;AAP69841;AAP94113;AAP94114;AAP94115;AAP94116;AAP94117;AAP94118;AAP94119;AAP94120;AAP94121;AAP94122;BAD92562;BAG48316;BAG58478;BAG58574;BAG58623;BAG59043;BAG63071;CAD59556;CAD59557;CAD92089;EAW57576;EAW57577;EAW57578;EAW57579;EAW57580;EAW57581;EAW57582;EAW57583;NP_942131;NP_942133;NP_942134;NP_942135;NP_942136;Q13085;XP_005257323;XP_005257324;XP_005257325;XP_006721916;XP_006725383;XP_006725384;XP_006725385 Hs.160556 1656653;1668802;1672259;1680385;1705774;1722145;1728739;1731417;1733378;1736696;1751813;1752911;1771596;1772194;1858503;2107809;2111366;2119838;2135250;2160287;2162425;2162427;5093206 A001W36;A009J24;ACACA_8187;Cda0ce05;D17S107;D17S1255;D17S1354E;D17S1515E;D17S2161;D19S1171;G09844;G19724;G32583;G54157;G60122;RH17508;RH98496;SHGC-105835;SHGC-106779;SHGC-31900;SHGC-78675;WI-11525;WI-14928 ACAC;ACC;ACC1;ACCA ACACAD;ACC-alpha;OTTHUMP00000164069;OTTHUMP00000164070;OTTHUMP00000164076;acetyl-CoA carboxylase 1;acetyl-CoA carboxylase-alpha;acetyl-Coenzyme A carboxylase alpha APPROVED protein-coding ENSG00000278540 HGNC:84 01938 200350;613933 REVIEWED 731908 ACACB acetyl-CoA carboxylase beta Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008] 12 12 12 q24.11 109201352 109330479 + 109554222 109706031 + 109116431 109268226 + 1304207;1580863;1300333;1625727;1300239;1300048;6480464;6907045;8554872 16485039;704405;734875;8670171 10677481;11257506;12086953;12413941;12477932;14532170;14613924;14627750;15060529;15590647;16054041;16794074;16854592;17223360;17521700;18029348;18031993;18455495;18976975;18996102;19034549;19190759;19322201;19390150;19618481;19720090;19846279;19900410;20085763;20139635;20168990;20379614;20468064;20514549;20519229;20599696;20602615;20799892;20855566;20877624;20965718;21139048;21344388;21553357;21887335;21906983;21908218;21953464;23081748;23156397;23460794;24255178;8876158;9099716;9148944;9284908 32 E9PEW7;F5H5C3;F8W8T8;H0YGH5;O00763;S4R3S7 AB209110;ABBA01005065;ABBA01005066;AC007637;AJ575431;AJ575592;AK302469;AK302502;AK307466;AMYH02027166;AMYH02027167;AMYH02027168;AMYH02027169;AY382667;BC009753;BC028417;CB269093;CB269579;CH471054;DB567934;DQ493870;NM_001093;R99037;U34591;U89344;XM_005253876;XM_006719365;XM_006719366;XM_006719367;XR_243001;XR_429096;XR_429097;XR_429098 AAB58382;AAC50571;AAH28417;AAI72264;AAI72569;AAR37018;ABF48723;BAD92347;BAG63759;BAG63782;CAE01470;CAE01471;EAW97852;EAW97853;EAW97854;EAW97855;NP_001084;O00763;XP_005253933;XP_006719428;XP_006719429;XP_006719430 Hs.234898 1667981;1684780;1769350;2114370;2156752 D12S1204E;D12S1876;RH92633;SGC32926;STS-N32504 ACC2;ACCB;HACC275 ACC-beta;OTTHUMP00000240532;acetyl-CoA carboxylase 2;acetyl-Coenzyme A carboxylase beta 1643258;1643266;1643270;1643277;2289628;2289630;2289632 BW198_H;BW201_H;BW203_H;BW205_H;BW500_H;BW501_H;BW502_H APPROVED protein-coding ENSG00000076555 HGNC:85 07044 601557 REVIEWED 1346668 ACAD10 acyl-CoA dehydrogenase family, member 10 This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008] 12 12 12 q24.12 111749322 111820374 + 112123857 112194911 + 111686053 111757107 + 6480464;8554872 12477932;14702039;15197164;15560374;16344560;18950845;20379614;20390405;20877624;21237683;21642993;21832049;21906983;22423221;23364394 80724 D6RFF6;F8VXK4;F8W0Q4;F8W179;F8W1A9;F8W1I9;Q6JQN1 ABBA01019902;ABBA01019903;ABBA01019904;ABBA01019905;ABBA01019906;AC002996;AK092356;AK097425;AK310923;AL832043;AMYH02027211;AMYH02027212;AY323912;BC003698;BC015056;BC054886;BC126358;CA419108;CF272632;CH471054;DA146693;NM_001136538;NM_025247 AAH15056;AAI26359;AAQ88260;BAC03869;BAC05046;EAW97961;EAW97962;EAW97963;EAW97964;EAW97965;EAW97966;EAW97967;EAW97968;EAW97969;EAW97970;EAW97971;NP_001130010;NP_079523;Q6JQN1 Hs.331141 1670033;1671683;2146077 A004F15;STS-H17854;WI-14804 MGC5601 ACAD-10;OTTHUMP00000221787;OTTHUMP00000221788;OTTHUMP00000241651;acyl-CoA dehydrogenase family member 10;acyl-Coenzyme A dehydrogenase family, member 10 APPROVED protein-coding ENSG00000111271 HGNC:21597 10625 611181 REVIEWED 1604580 ACAD11 acyl-CoA dehydrogenase family, member 11 ENCODES a protein that exhibits long-chain-acyl-CoA dehydrogenase activity; medium-chain-acyl-CoA dehydrogenase activity; very-long-chain-acyl-CoA dehydrogenase activity; INVOLVED IN fatty acid beta-oxidation using acyl-CoA dehydrogenase; FOUND IN mitochondrial membrane; nucleus; peroxisome (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; benzo[a]pyrene 3 3 3 q22.1 130703259 130804468 - 132276982 132378975 - 132558138 132660131 - 6480464 12056414;12477932;14561759;14702039;15489334;16344560;19423540;20237496;20406964;20438785;20877624;21237683;21832049;21903422;22002062;24097068;24255178;25036637 84129 D6RDI8;F8WEV0;H0Y9C6;Q08AE9;Q709F0 ABBA01059180;ABBA01059181;ABBA01059182;ABBA01059183;ABBA01059184;ABBA01059185;AC020632;AI091999;AJ608287;AK022654;AK131265;AK298627;AK308380;AL832873;AL833721;AMYH02007688;AMYH02007689;AX803783;AX803785;BC019607;BC125204;BC125205;CH471052;DA804241;HH961824;KF457683;KF457684;NM_032169 AAH19607;AAI25205;AAI25206;BAB14158;BAD18443;BAG60803;CAE55233;CAE75545;CAE75546;CAH56228;CAH56354;CBX51385;EAW79193;EAW79194;EAW79195;NP_115545;Q709F0 Hs.441378 1751113;1797360;2180746 CCRL1_2475;SHGC-105034;SHGC-77360 ACAD-11;FLJ12592;MGC150619 62113 protein;OTTHUMP00000216473;acyl-CoA dehydrogenase family member 11;acyl-Coenzyme A dehydrogenase family, member 11;putative acyl-CoA dehydrogenase APPROVED protein-coding ENSG00000240303 HGNC:30211 13352 614288 VALIDATED 1344764 ACAD8 acyl-CoA dehydrogenase family, member 8 This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009] 11 11 11 q25 131296297 131308612 + 134123428 134135749 + 134253537 134265855 + 1580863;6480464;6907045;7240710;8554872;8699517 10235267;10524212;11013134;12359132;12477932;14702039;14752098;15489334;16806233;17387528;20360068;20877624;23080069;23251661 27034 B7Z7F1;E9PKP9;E9PLS3;H0YDR9;Q9UKU7 AB209538;ABBA01031114;AF126245;AF260689;AK000359;AK026243;AK074640;AK125373;AK299492;AK299795;AK301518;AK301921;AK303569;AK309051;AK309838;AMYH02025834;AP000859;BC001964;BI549961;CH471065;CQ782614;NG_015842;NM_014384;XM_005271501;XM_005271503;XM_005271505 AAF12736;AAF97922;AAH01964;ABM82019;ABM85201;BAA91109;BAC11107;BAC86149;BAD92775;BAH13050;BAH13130;BAH13503;BAH13587;BAH13987;CAF85883;EAW67833;EAW67834;EAW67835;NP_055199;Q9UKU7;XP_005271558;XP_005271560;XP_005271562 Hs.14791 1671077;2181534;2183571;5016236 RH11494;SGC32153;SGC32443;STS-N26556 ACAD-8;ARC42;FLJ22590 OTTHUMP00000235422;OTTHUMP00000235425;activator-recruited cofactor 42 kDa component;acyl-Coenzyme A dehydrogenase family, member 8;isobutyryl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000151498 HGNC:87 11985 604773;611283 REVIEWED 1348095 ACAD9 acyl-CoA dehydrogenase family, member 9 This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010] 3 3 3 q21.3 127030566 127064360 + 128598333 128631957 + 128879490 128913114 + 1580863;2317589;6480464;7240710;8554872;8699517 14728676 11256614;12359260;12477932;12971426;14702039;15489334;16020546;16344560;16750164;17564966;17672918;18385088;19615732;20186120;20816094;20877624;20929961;21057504;21139048;22277967;22939629;23064961;24250222;24816145 28976 D6R9Z3;D6RCD8;D6RDK9;D6RGK6;D6RJA8;H0Y8Z9;Q9H845 AB209427;ABBA01020915;ABBA01020916;ABBA01020917;AC112484;AF078854;AF327351;AK022568;AK024012;AK027186;AK130311;AK294597;AK297952;AK310644;AMYH02007628;BC001817;BC007970;BC013354;BC041572;CH471052;DA630022;NG_017064;NM_014049;NR_033426;XR_427366;XR_427367 AAD44486;AAH01817;AAH07970;AAH13354;AAL56011;ABM84442;ABM87494;BAB14104;BAB14775;BAD92664;BAG57785;BAG60267;EAW79293;EAW79294;EAW79295;EAW79296;NP_054768;Q9H845 Hs.567482 1733830;1749437;1797258;2152943;5015961;5022322;5037552;7184418 ACAD9_1898;D11S2560;D15S1477;D3S1498;D8S2279;SHGC-111168;STS-AA024661 ACAD-9;FLJ23533;MGC14452;NPD002 OTTHUMP00000217095;OTTHUMP00000217099;acyl-CoA dehydrogenase family member 9, mitochondrial;acyl-Coenzyme A dehydrogenase family, member 9;very-long-chain acyl-CoA dehydrogenase VLCAD APPROVED protein-coding ENSG00000177646 HGNC:21497 12412 611103;611126 REVIEWED 732202 ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain This gene encodes a a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with Short Chain Acyl-CoA Dehydrogenase Deficiency. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 120797834 120812046 + 121163544 121177811 + 120725768 120740008 + 1580863;1300335;1300239;1300048;2317678;2317589;6480464;6907045;7240710;8554872;8699517 14728676;3968063;704405;734878 11134486;12220177;12477932;12706374;1286669;15489334;15902559;16376132;16729965;1692038;18045290;18054510;18175080;18184946;18523805;18539996;18977676;19470168;19913121;20037589;20180986;20371198;20376488;20554694;20628086;20843780;20877624;21211036;21886157;21938826;21968293;21988832;22004070;2565344;8276399;8503850;8889548;9383286;9499414 35 E5KSD5;E9PE82;P16219 AB527081;ABBA01020134;ABBA01020135;AC069234;AK300645;AMYH02027380;BC025963;BU682624;CH471054;DB487184;HQ205946;HQ205947;HQ205948;HQ205949;HQ205950;HQ205951;HQ205952;HQ205953;HQ205954;HQ205955;HQ205956;HQ205957;HQ205959;HQ205960;HQ205961;HQ205962;HQ205963;HQ205964;HQ205965;HQ205966;HQ205967;HQ205968;HQ205970;HQ205971;HQ205972;HQ205973;HQ205974;HQ205975;HQ205976;HQ205977;HQ205978;HQ205979;HQ205980;HQ205981;HQ205983;HQ205984;M26393;NG_007991;NM_000017;U83992;Z80345;Z80347 AAA60307;AAD00552;AAH25963;ABM83110;ABM86304;ADP91814;ADP91815;ADP91816;ADP91817;ADP91818;ADP91819;ADP91820;ADP91821;ADP91822;ADP91823;ADP91824;ADP91825;ADP91827;ADP91828;ADP91829;ADP91830;ADP91831;ADP91832;ADP91833;ADP91834;ADP91835;ADP91836;ADP91838;ADP91839;ADP91840;ADP91841;ADP91842;ADP91843;ADP91844;ADP91845;ADP91846;ADP91847;ADP91848;ADP91849;ADP91851;ADP91852;BAG62333;BAJ05798;CAB02492;EAW98218;NP_000008;P16219 Hs.507076 1681442 RH75794 ACAD3;SCAD OTTHUMP00000240402;OTTHUMP00000240403;acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain;butyryl-CoA dehydrogenase;mitochondrial short-chain specific acyl-CoA dehydrogenase;short chain acyl-coenzyme a dehydrogenase;short-chain acyl-CoA dehydrogenase;short-chain specific acyl-CoA dehydrogenase, mitochondrial;unsaturated acyl-CoA reductase APPROVED protein-coding ENSG00000122971 HGNC:90 06053 201470;606885 REVIEWED 733759 ACADL acyl-CoA dehydrogenase, long chain The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008] 2 2 2 q34 204820713 204858229 - 211052632 211090215 - 210187908 210225491 - 1304195;1580863;704409;1300048;2317678;2317589;6480464;8554872 11125071;14728676;1774065;3968063 10832093;12477932;1438359;1559716;1607358;17500595;18029348;18660489;1945557;19913121;2000272;20037589;20363655;20628086;20877624;22118674;23281178;24121500;24591516;4022672;8739959;9003458;9714723 33 P28330 ABBA01062734;AC006994;AK296161;AK313498;AMYH02005681;BC039063;BC064549;CH471063;DC350098;M74096;NG_008002;NM_001608;XM_005246517 AAA51565;AAH39063;AAH64549;AAY14881;ABM81711;ABM84867;BAG36280;BAG58900;EAW70481;NP_001599;P28330;XP_005246574 Hs.471277 1662038;1665787;1677044;1693682;1711438;1795282;2183360 ACADL;ACADL_199;D2S1847;RH69173;RH80284;SHGC-36221;SHGC-58606 ACAD4;FLJ94052;LCAD OTTHUMP00000163937;acetyl-coenzyme a dehydrogenase, long-chain;acyl-Coenzyme A dehydrogenase, long chain;long-chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000115361 HGNC:88 01939 609576 REVIEWED 735259 ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p31 74429931 74469272 + 76190043 76229355 + 75724347 75763679 + 1300334;1580863;704409;1300048;2317678;2317589;6480464;6484113;6907045;7240710;8554872;8699517 11125071;14728676;3968063;734877 10767181;11256614;11263545;11349232;11409868;11486912;11517203;12477932;12522104;12562916;12914524;1363805;14692513;14970748;15171999;15489334;15832312;15840729;15896661;15902558;16128823;16236267;16291504;16344560;16617240;1671131;1679031;1684086;16917729;16972171;17186412;1729890;1731887;17539907;18029348;18188679;18241067;18660489;18927092;1902818;19064330;19224950;19551636;19615732;19649258;1970566;19913121;20037589;20301597;20434380;20567907;20628086;20877624;21083904;21139048;21145461;21239873;21886157;21968293;2251268;22630369;22683754;22797925;22863883;23028790;23141465;23752268;23810226;2393404;2394825;24250222;24583282;24816145;25027693;3035565;3462713;3597357;3786030;6857268;7603790;7608198;7929823;8198141;8823176;9158144;9484241;9487154;9882619 34 B4DJE7;B4DVB1;B7Z9I1;E9PIX8;E9PJM9;E9PLN7;E9PQA8;E9PRX4;H0YDT5;P11310;Q5HYG7;Q5T4U5 ABBA01074416;ABBA01074417;ABBA01074418;AF251043;AK296045;AK301005;AK301039;AK301717;AK309843;AK311022;AK311185;AK312629;AK315946;AL357314;AMYH02001281;AMYH02001282;BC005377;BI789086;BX647734;CH471059;DB055575;DB453314;DB537134;M16827;M60505;M91432;NG_007045;NM_000016;NM_001127328;NM_001286042;NM_001286043;NM_001286044;U33947 AAA51566;AAA59567;AAB59625;AAF63626;AAH05377;ABM83267;ABM86636;BAG35514;BAG58809;BAG62623;BAG62652;BAG63188;BAH14317;CAI45986;EAX06399;EAX06400;EAX06401;NP_000007;NP_001120800;NP_001272971;NP_001272972;NP_001272973;P11310 Hs.445040 1673630;1743931;1745673;1745675;1745677;1745679;1754041;1792750;1792756;1797260;2141652;2163872;2189357;5491767 ACADM;ACADM__2214;D17S2133;D1S2386;GDB:375715;GDB:631816;GDB:631822;GDB:631826;GDB:631830;MARC_2710-2711:991933212:3;PMC162151P1;PMC162151P4;RH17668;SHGC-132084 ACAD1;FLJ18227;FLJ93013;FLJ99884;MCAD;MCADH OTTHUMP00000011345;OTTHUMP00000011346;OTTHUMP00000232508;acetyl-coenzyme a dehydrogenase, medium chain;acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain;medium-chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000117054 HGNC:89 08447 201450;607008 REVIEWED 735407 ACADVL acyl-CoA dehydrogenase, very long chain The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7147787 7153219 + 7120444 7128586 + 7217125 7225267 + 704409;1580863;1300337;1300048;1300240;2317683;2317589;6480464;6484113;7240710;8554872;8699517 11125071;14728676;15850553;704385;734536 10077518;10790204;11158518;12477932;12609736;14611808;14702039;15489334;16212417;16344560;16464760;17374501;17457695;17514507;17999356;18063578;18156936;18337751;18660489;18781797;19327992;19889959;20060901;20099975;20107901;20186120;20301763;20952238;21890473;21906983;21932095;21988832;22093833;22093928;22304920;22939629;23169530;23480858;7479827;7668252;7769092;8125298;8466512;8554073;8554625;8845838;8921384;9546340;9599005;9709714;9973285 37 B3KPA6;G3V1M7;J3KS89;J3KSR4;J3QKU9;J3QRJ8;J9JID6;K7EJW8;K7EMF8;K7EQP4;P49748 AA643658;ABBA01054853;ABBA01054854;AC120057;AF244932;AJ012053;AK056083;AK056956;AK058109;AK097243;AK222518;AK293549;AK302653;AL536186;AMYH02032893;AMYH02032894;BC000399;BC012912;BC020218;BI822737;BP387474;CH471108;D43682;D78298;DA945553;L46590;NG_007975;NM_000018;NM_001033859;NM_001270447;NM_001270448;X86556;XM_006721516 AAA79002;AAH00399;AAH12912;AAH20218;BAA07781;BAA29057;BAD96238;BAG51618;BAG51833;BAG57027;BAG63892;CAA60253;EAW90246;EAW90247;EAW90248;EAW90249;EAW90250;NP_000009;NP_001029031;NP_001257376;NP_001257377;P49748;XP_006721579 Hs.437178 1648975;1736686;1778559;2216976 ACADVL_2963;D17S1508E;RH11576;SHGC-35547 ACAD6;LCACD;VLCAD OTTHUMP00000128351;acyl-Coenzyme A dehydrogenase, very long chain;very long-chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000072778 HGNC:92 01940 201475;609575 REVIEWED 1313339 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); protein transport (inferred); regulation of ARF GTPase activity (inferred); PARTICIPATES IN endocytosis pathway; FOUND IN membrane; INTERACTS WITH copper(2+) sulfate; cytarabine; beta-naphthoflavone (ortholog) 17 17 17 p13.1 7265787 7280732 + 7239848 7254797 + 7336529 7351478 + 1580863;6480464;6907045 11050434;11062263;12477932;15489334;15525538;16189514;16777052;17005562;17010122;17474147;17664335;18003747;18685082;19946888;20379614;20800603;22188517;22505724;22645133;23317930;24816145;7566098;7584044 9744 I3L0K9;I3L268;I3L2Z4;I3L3X6;Q15027 AA356620;ABBA01054860;AC026954;AMYH02032897;AMYH02032898;BC018543;BT009788;CH471108;D30758;NM_014716;XM_005256878;XR_243574;XR_429827 AAH18543;AAP88790;ABM82645;BAA06418;EAW90209;EAW90210;NP_055531;Q15027;XP_005256935 Hs.337242 5023450 RH25286 CENTB1;KIAA0050;cnt-b1 Arf GAP with coiled coil, ANK repeat and PH domains 1;OTTHUMP00000128386;arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1;centaurin, beta 1;centaurin-beta-1 protein-coding ENSG00000072818 HGNC:16467 08474 607763 VALIDATED 6481025 ACAP2-IT1 ACAP2 intronic transcript 1 (non-protein coding) 100874306 AC090018 ncrna HGNC:41426 1347120 ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); Rab GTPase binding (inferred); zinc ion binding (inferred); INVOLVED IN cellular response to nerve growth factor stimulus (ortholog); protein localization to endosome (ortholog); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; endosome membrane (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 3 3 3 q29 193403894 193572181 - 194995465 195163817 - 195274736 195443088 - 1580863;6480464;6907045;8554872 11001876;11050434;11062263;12477932;15489334;15592455;16344560;18003747;18685082;19946888;22379092;23184937;24816145;7584044;8125298 23527 C9J8L1;F8WAU0;H7C1E0;H7C3K3;H7C3Q8;Q15057 ABBA01001610;ABBA01001611;AC090018;AC091633;AC126170;AJ238248;AK222635;AK290369;AMYH02008465;AMYH02008466;AMYH02008467;AMYH02008468;AMYH02008469;BC014843;BC017120;BC031005;BC047579;BC060767;CA413842;CH471052;D26069;DA774230;DB087306;NM_012287;XM_006713557;XM_006713558 AAH31005;AAH60767;BAA05064;BAF83058;CAB41450;EAW78026;EAW78027;NP_036419;Q15057;XP_006713620;XP_006713621 Hs.593373 1659313;1662382;1686426;1690824;1756055;2112552;2126778;2155167;2166787;2186802;5022651 D11S2921;D3S4421;RH12652;RH25278;RH68527;RH71442;RH76068;SHGC-142861;SHGC-59960;SHGC-77675;STS-R86950 CENTB2;CNT-B2;KIAA0041 Arf GAP with coiled coil, ANK repeat and PH domains 2;OTTHUMP00000208844;arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2;centaurin, beta 2;centaurin-beta-2 protein-coding ENSG00000114331 HGNC:16469 09681 607766 VALIDATED 68507 ACAN aggrecan This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 65748790 65819902 + 89346674 89418585 + 88803442 88875354 + 1300269;1580863;2315807;2315836;2315837;2315073;6480464;7240710;8554872;8699517 11764092;14769391;18511192;19955224;9192671 10400671;10751421;10922468;11038354;11854269;11898616;11932252;12054629;12205105;12477932;12888576;1326552;14558103;14627072;14701864;14722076;14724283;15505028;15590670;1569188;16001263;16080123;16188468;16335952;16344560;16402214;16425147;16537531;16574327;16650460;16741449;17261541;17308074;17568421;17588949;17632389;18040638;18055126;18391952;18829133;19004047;19034380;19110214;19180518;19220578;19266077;19294492;19298220;19333097;19545413;19657146;19669783;19790048;1985970;19893584;19913121;19953087;20137779;20367118;20367178;20379614;20496110;20505571;20546612;20618160;20628086;20640910;20806220;20881960;20936487;21039430;21117903;21224775;21277254;21655647;21689646;21948754;21998595;22015197;22241609;22297263;22329809;22441960;22670872;22820679;23209686;23237500;23370687;23563607;23897278;24032649;24063364;24296484;24312401;24398992;24421874;2789216;7240256;7524681;7574678;7626017;7827755;7998967;8216228;8314595;8349621;8611178;8921002;9013976;9654129;9688535;9756610 176 E7ENV9;E7EX88;H0YK70;H0YM81;H0YMF1;P16112;Q6PID9 ABBA01053001;ABBA01053002;AC103982;AK290723;AMYH02031012;BC036445;BC150624;BQ182050;BQ446640;CH471101;CS025622;DA596050;J05062;L12234;L29488;M55172;NG_012794;NM_001135;NM_013227;S74659;U13192;X17406;X80278;XM_006720419 AAA35726;AAA62824;AAB48068;AAC60643;AAH36445;AAI50625;BAF83412;CAA35463;CAI61688;EAX02017;EAX02018;EAX02019;EAX02020;EAX02021;NP_001126;NP_037359;P16112;XP_006720482 Hs.2159;Hs.616395 1335591;1339626;1724835;1761671;2136832;2140715 D15S1004;D19S876;RH119180;RH17913;SGC30467;SHGC-145650 AGC1;CSPG1;CSPGCP;MSK16;SEDK AGCAN;aggrecan 1;aggrecan core protein;cartilage-specific proteoglycan core protein;chondroitin sulfate proteoglycan core protein 1;large aggregating proteoglycan APPROVED protein-coding ENSG00000157766 HGNC:319 01123 155760;165800;608361;612813 REVIEWED 735869 ACADSB acyl-CoA dehydrogenase, short/branched chain Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008] 10 10 10 q26.13 118474901 118524347 + 124768429 124817806 + 123008913 123058290 + 1300336;704409;1580863;1300048;6480464;6907045;7240710;8554872;8699517 11125071;734879 10832746;11013134;12477932;12855692;15489334;16317551;16331963;16331964;16344560;16385451;17143180;17207965;18976975;19615732;20418485;20547083;20877624;21139048;21890473;22277967;22797925;23712021;25027693;7698750;7759115 36 H0Y6T4;P45954 ABBA01062838;AC012391;AC073585;AF260678;AK298638;AK314241;AL731666;AL831821;AMYH02023959;AMYH02023960;BC013756;BC020931;BC032395;BC045723;BE875638;CH471066;DA964130;NG_008003;NM_001609;U12778 AAA74424;AAF97921;AAH13756;ADQ31765;BAG36909;BAG60813;CAD38535;EAW49291;NP_001600;P45954 Hs.81934 1652987;1736014;1795284;2114196;2127803;2147827;2159232;2162982;2183653;5109549;5122025 ACADSB_201;D10S1297E;D10S2417;D21S1698;RH44700;RH44778;RH68878;RH70481;SHGC-13269;SHGC-35255;WI-18655 2-MEBCAD;ACAD7;SBCAD 2-methyl branched chain acyl-CoA dehydrogenase;2-methylbutyryl-coenzyme A dehydrogenase;OTTHUMP00000020685;OTTHUMP00000240061;acyl-Coenzyme A dehydrogenase, short/branched chain;short/branched chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000196177 HGNC:91 02626 600301;610006 REVIEWED 737017 ACAT1 acetyl-CoA acetyltransferase 1 This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009] 11 11 11 q22.3 105147145 105173805 + 107992258 108018895 + 108121531 108148168 + 704409;1300338;1300048;1580863;1300240;2307223;2326222;1358268;2326093;1581042;2326081;6480464;6907045;7240710;8554872;8699517 11125071;15308631;15877199;15961705;19147991;19878707;704385;734884;7617578 12477932;12754704;1346617;1351831;15128923;15158756;15242332;1627655;16341674;1684944;16935016;1715688;17236799;17353931;17371050;17691824;18000807;18029348;18393248;18511318;18542101;18562306;18779653;18971559;18996102;19056867;19112833;19217763;19269342;19625677;19738201;1979337;19851860;20046049;20156697;20167577;20301313;20460577;20602615;20843517;20877624;20945045;21081666;21110914;21139048;21145461;21177161;21791085;21890473;21906983;21988832;22057399;22145905;22243772;22268729;22275303;22586326;22623428;22939629;23305686;23443136;23564383;23835473;23874603;24311408;24407243;24486017;24517390;24583282;25027693;3709573;4690360;7173255;7728148;7749408;7907600;8103405;9380443;9607396;9700610;9744475 38 E9PKF3;E9PRQ6;G3XAB4;H0YEL7;P24752 ABBA01039868;ABBA01039869;ABBA01039870;AF086561;AK312574;AMYH02025543;AMYH02025544;AMYH02025545;AP002433;AW081574;BC010942;BC063853;BM789408;CH471065;D10511;D90228;NG_009888;NM_000019;S70578;XM_006718834;XM_006718835 AAH10942;BAA01387;BAA14278;BAG35468;EAW67103;EAW67104;EAW67105;NP_000010;P24752;XP_006718897;XP_006718898 Hs.232375 1690918;1736160;1778692;2111318;2138269;2140028;2163311;5117438;5117440;5117442;7185620 ACAT1;D11S2051;D11S2241E;D11S384;D11S4336;GDB:555481;GDB:555487;GDB:555490;RH45817;STS-AA010069 ACAT;MAT;T2;THIL OTTHUMP00000232753;acetoacetyl Coenzyme A thiolase;acetoacetyl-CoA thiolase;acetyl-CoA acetyltransferase, mitochondrial;acetyl-Coenzyme A acetyltransferase 1;mitochondrial acetoacetyl-CoA thiolase APPROVED protein-coding ENSG00000075239 HGNC:93 01946 203750;607809 REVIEWED 1321777 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; acetylsalicylic acid; methyl methanesulfonate 1 1 1 1337872 1353397 + 1227764 1243304 - 1292384 1307924 - 1580863;6480464;6907045;8554872 11214970;12477932;14702039;15489334;16169070;19548526;19913121;20628086;21900206;24250222 116983 F8W850;Q8WTZ1;Q96P50 AB051503;ABBA01016029;AF411981;AK093954;AK098490;AL139287;AL162741;AMYH02000090;BC004874;BC021851;BC029929;BC047001;BC051194;CH471183;NM_030649;XM_005244714;XM_005244715;XM_005244716;XM_005244717;XM_006710329 AAH04874;AAH21851;AAH29929;AAH51194;AAL04165;BAB21807;BAC04257;EAW56246;EAW56247;EAW56248;EAW56249;EAW56250;NP_085152;Q96P50;XP_005244771;XP_005244772;XP_005244773;XP_005244774;XP_006710392 Hs.535257 2183853 SHGC-74126 CENTB5;KIAA1716;cnt-b5 OTTHUMP00000002285;arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3;centaurin, beta 5;centaurin-beta-5 protein-coding ENSG00000131584 HGNC:16754 10820 VALIDATED 1348505 ACBD3 acyl-CoA binding domain containing 3 The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008] 1 1 1 q42.12 199523027 199565088 - 226332380 226374423 - 226144679 226186722 - 1580863;6480464;8554872 11590181;11731621;12477932;12665801;12692076;12711385;14702039;15231748;15489334;16710414;16870622;17711851;18029348;18636124;19322201;19946888;20150326;21139048;21145461;21890473;21906983;21963094;22053931;22124328;22190034;22258260;22383495;22505724;22796112;22863883;23000965;23166793;23572552;23874603;23926333;24012756;24672044;24816145;25027693 64746 O43466;Q9H3P7 AB043587;ABBA01009645;ABBA01009646;ABBA01009647;ABBA01009648;AF020762;AK025520;AK057118;AK314468;AL592045;AMYH02002808;AY150218;BC034563;BC039575;BC045533;BC060792;CH471098;NG_028985;NM_022735 AAB97675;AAH34563;AAH45533;AAH60792;AAN60219;BAB15159;BAB20592;BAG37076;EAW69775;EAW69776;NP_073572;Q9H3P7 Hs.520207 1646784;1666214;1667595;1680010;1686518;1746005;1787856;1788608;1790217;2156909 AI234525;BCD1405;C76375;D1S3722;RH125959;RH69697;RH80265;RH80922;SHGC-132660;SHGC-37008 GCP60;GOCAP1;GOLPH1;PAP7 Golgi resident protein GCP60;OTTHUMP00000035668;PBR associated protein;PBR- and PKA-associated protein 7;PKA (RIalpha)-associated protein;acyl-CoA-binding domain-containing protein 3;acyl-Coenzyme A binding domain containing 3;golgi complex associated protein 1, 60kDa;golgi complex-associated protein 1;golgi phosphoprotein 1;peripheral benzodiazepine receptor-associated protein PAP7;peripherial benzodiazepine receptor associated protein APPROVED protein-coding ENSG00000182827 HGNC:15453 08432 606809 REVIEWED 1354229 ACAT2 acetyl-CoA acetyltransferase 2 The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. [provided by RefSeq, Jul 2008] 6 6 6 q25.3 160829071 160846164 + 160182989 160200087 + 159761957 159779055 + 1298605;1581921;1556516;1601111;1601112;2316857;2326093;6480464;6907045;7240710;8699517 11100118;14557872;15877199;16195894;16675724;16876788;2475872 12477932;12518221;12621162;14574404;14702039;15158756;15342556;15489334;15733928;16331323;17207965;17353931;17919884;17950700;18000807;18029348;18269457;18660489;18996102;19071091;19282863;19467657;19913121;20167577;20602615;20628086;20877624;21044950;21139048;21890473;21987487;21988832;22053931;22155889;22863883;22939629;23824909;24250222;24816145;25015289;25027693;6150136;7911016;8125298;8812443 39 Q9BWD1 AB208993;ABBA01021060;ABBA01021061;ABBA01021062;AF356877;AK055001;AK225089;AK225244;AK291080;AK294273;AL135914;AMYH02014872;AMYH02014873;BC000408;BM997310;BP210609;CH471051;KF458339;NG_023389;NM_005891;S70154;XM_005266980 AAB30856;AAH00408;AAM00223;ADQ32668;BAD92230;BAF83769;BAH11719;EAW47619;EAW47620;NP_005882;Q9BWD1;XP_005267037 Hs.571037 1690115;1776183;1857693;2150370;2168149;5111951 D6S1840;G05384;G43314;RH93477;SHGC-36020;SHGC-37084 OTTHUMP00000017527;acetoacetyl Coenzyme A thiolase;acetyl-CoA acetyltransferase, cytosolic;acetyl-CoA transferase-like protein;acetyl-Coenzyme A acetyltransferase 2;acetyl-coenzyme a acetyltransferase 2 (acetoacetyl coenzyme a thiolase);cytosolic acetoacetyl-CoA thiolase 2289445;2314977;2314981;2314987;2314988;2314994;2314995;2314996 BW415_H;BW515_H;GLUCO127_H;INSUL31_H;INSUL38_H;INSUL40_H;SLEP23_H;SLIPL24_H APPROVED protein-coding HGNC:94 00006 100678;614055 REVIEWED 1350250 ACBD7 acyl-CoA binding domain containing 7 ENCODES a protein that exhibits fatty-acyl-CoA binding (inferred); lipid binding (inferred); INTERACTS WITH calcitriol; paracetamol; silicon dioxide 10 10 10 p13 15046107 15059408 - 15057071 15130783 - 15075475 15088776 - 6480464 12477932;14702039;15164054;15489334;23251661 414149 B7Z2W2;Q8N6N7 ABBA01034600;AK095538;AK295169;AL590365;AMYH02022205;BC029526;BX114172;CH471072;NM_001039844 AAH29526;ADZ15342;BAG53080;BAH11998;EAW86243;NP_001034933;Q8N6N7 Hs.644598;Hs.723069 5022578;5037552 D1S1423;D8S2279 FLJ38219;FLJ52263;MGC33893;bA455B2.2 OTTHUMP00000019197;acyl-CoA-binding domain-containing protein 7;acyl-Coenzyme A binding domain containing 7 APPROVED protein-coding HGNC:17715 VALIDATED 1318153 ACBD4 acyl-CoA binding domain containing 4 This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 17 17 17 q21.31 39919127 39931193 + 43209967 43221548 + 45132600 45144181 + 6480464 12477932;14702039;15221005;15489334;16344560;17207965;19430483;20881960;21045733;21832049;22566634 79777 B4DJP3;K7EM05;K7EMH4;Q8NC06 AB073387;ABBA01028325;ABBA01028326;ABBA01028327;AC142472;AK023384;AK075104;AK296167;AK316359;AMYH02033510;AX880467;BC022000;BC029164;BC041143;CH471178;DA039654;DB128538;DC393065;DC421936;NM_001135704;NM_001135705;NM_001135706;NM_001135707;NM_024722;XM_005257673;XM_005257674;XM_005257677;XM_006722085;XM_006722086;XM_006722087;XM_006722088;XM_006722089;XM_006722090 AAH29164;AAH41143;ADQ33037;BAB14553;BAC11403;BAD38638;BAG58905;BAH14730;CAE90961;EAW51548;EAW51549;EAW51550;EAW51551;EAW51552;NP_001129176;NP_001129177;NP_001129178;NP_001129179;NP_078998;Q8NC06;XP_005257730;XP_005257731;XP_005257734;XP_006722148;XP_006722149;XP_006722150;XP_006722151;XP_006722152;XP_006722153 Hs.110298 1686076;2131056;5022578 D1S1423;RH45681;RH98888 FLJ13322;FLJ90623;HMFT0700 acyl-CoA-binding domain-containing protein 4;acyl-Coenzyme A binding domain containing 4 APPROVED protein-coding ENSG00000181513 HGNC:23337 REVIEWED 1319743 ACBD5 acyl-CoA binding domain containing 5 This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 10 10 10 p12.1 27200570 27247485 - 27484143 27531068 - 27195214 27242275 - 1580863;6480464 12056414;12477932;14702039;15342556;16385451;17207965;18029348;19946888;20626622;21890473;21906983;21963094;22190034;23000965;23105016;24905344 91452 B7Z2A7;B7Z2R7;Q5T8D3;Q5T8E0;Q8NCM9;X6RDD7 AB082527;ABBA01034394;ABBA01034395;ABBA01034396;ABBA01034397;ABBA01034398;ABBA01034399;AF505653;AI453384;AK057469;AK294510;AK295031;AK304842;AL133064;AL160291;AMYH02022509;AMYH02022510;BC011364;BC025309;BC030555;BP200763;BX643349;CA776355;CH471072;DC333545;DC333870;KF459530;NG_032960;NM_001042473;NM_001271512;NM_001301251;NM_001301252;NM_001301253;NM_001301254;NM_145698;NR_024150;NR_073195;NR_073196;NR_073197;XM_006717528;XM_006717529;XM_006717530;XM_006717531;XM_006717532;XM_006717533;XM_006717534;XM_006717535 AAH30555;AAP30852;ADQ32840;BAC02705;BAG51918;BAH11793;BAH11953;BAH14266;CAB61388;EAW86059;EAW86060;EAW86061;EAW86062;EAW86063;NP_001035938;NP_001258441;NP_001288180;NP_001288181;NP_001288182;NP_001288183;NP_663736;Q5T8D3;XP_006717591;XP_006717592;XP_006717593;XP_006717594;XP_006717595;XP_006717596;XP_006717597;XP_006717598 Hs.530597 1342120;1720025;1731082;1731096;1731104;1782118;2123752;2133550;5022322;5092802 A006F35;D10S1733;D10S291;D10S298;D10S303;D11S2560;G32339;RH123807;SHGC-155089;STS-H57537 DKFZp434A2417;KIAA1996 OTTHUMP00000019362;OTTHUMP00000019363;OTTHUMP00000019364;OTTHUMP00000019365;acyl-CoA-binding domain-containing protein 5;acyl-Coenzyme A binding domain containing 5;endozepine-related protein;membrane-associated diazepam binding inhibitor APPROVED protein-coding ENSG00000107897 HGNC:23338 12415 REVIEWED 1606762 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) INVOLVED IN biosynthetic process (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 11 11 11 p11 44234936 44252861 + 44087729 44105791 + 44066179 44084240 + 6480464 11470512;12477932;14702039;16189514;16344560;20453000 84680 E9PRT9;E9PS61;Q96QU6 ABBA01060771;AC134775;AK057649;AK302515;AK304074;AK307380;AL833533;AMYH02024683;AY026508;BC020197;CH471064;DA196370;DA406116;DC390076;NM_001127219;NM_032592;XM_005253170;XM_005253171;XM_005253172;XM_006718347;XM_006718348 AAH20197;AAK11482;BAB71541;BAG63791;BAG64981;EAW68072;EAW68073;NP_001120691;NP_115981;Q96QU6;XP_005253227;XP_005253228;XP_005253229;XP_006718410;XP_006718411 Hs.126706 2189509 G73152 ACS;PHACS 1-aminocyclopropane-1-carboxylate synthase-like protein 1;ACC synthase-like protein 1;OTTHUMP00000232862 protein-coding ENSG00000110455 HGNC:23989 10524 608405 VALIDATED 1312817 ACBD6 acyl-CoA binding domain containing 6 ENCODES a protein that exhibits fatty-acyl-CoA binding (inferred); lipid binding (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; cyclosporin A 1 1 1 q25.1 153364592 153578887 - 180257352 180472022 - 180288217 180502887 - 737633;1580863;6480464 12477932 15489334;16710414;18029348;18268358;19471022;20098747;20379614;21139048;21832049;21890473;21963094;22053931;8889549 84320 B2RAA8;Q9BR61 AA085012;ABBA01027794;ABBA01027795;ABBA01027796;AK314112;AL139141;AL358354;AL445469;AL537685;AL561590;AMYH02002242;AMYH02002243;AMYH02002244;AY606133;BC006505;BU170874;CH471067;NM_032360 AAH06505;BAG36805;EAW91082;EAW91083;EAW91084;NP_115736;Q9BR61 Hs.200051 1683038;1692972;1780128;1852776;2028464;2187693 AL034203;At-8BJ-008;REN85236;RH80540;SHGC-154434;SHGC-76002 MGC2404 OTTHUMP00000033086;acyl-CoA-binding domain-containing protein 6;acyl-Coenzyme A binding domain containing 6 APPROVED protein-coding ENSG00000230124 HGNC:23339 12416 VALIDATED 2302255 ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like ENCODES a protein that exhibits catalytic activity (inferred); pyridoxal phosphate binding (inferred); INVOLVED IN biosynthetic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH pentachlorophenol (ortholog); pirinixic acid (ortholog); valproic acid (ortholog) 11 11 11 p11.2 44216736 44228734 + 44069531 44081527 + 44047981 44059977 + 6480464;8554872 12477932 390110 E9PI59;Q3C1W0;Q4AC99 AB231732;AB231733;AB231734;ABBA01060771;AC134775;AMYH02024682;BC144554;CH471064;DW009984;NM_001031854;XM_005252915 BAE17132;BAE46887;EAW68074;NP_001027025;Q4AC99;XP_005252972 Hs.558851 1695414 SHGC-68777 1-aminocyclopropane-1-carboxylate synthase-like protein 2;ACC synthase-like protein 2;OTTHUMP00000232861;probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 protein-coding ENSG00000205126 HGNC:34391 VALIDATED 6895289 ACE3P angiotensin I converting enzyme (peptidyl-dipeptidase A) 3, pseudogene 17 17 17 q23.3 55972116 55984899 + 61584395 61597188 + 63507034 63519827 + 17597519 100129123 ABBA01035330;AC113554;AMYH02033775;NG_016186 ACE3 pseudo HGNC:44365 INFERRED 1351362 ACD adrenocortical dysplasia homolog (mouse) This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52199905 52203208 - 67691415 67694718 - 67657512 67660815 - 1580863;6480464;8554872 12477932;14702039;15181449;15231715;15316005;15380063;15383534;15489334;15537664;16166375;16169070;16189514;16344560;16504561;16713569;16749892;16880378;17237767;17237768;17373762;17466001;17632522;18185984;19424630;19648609;19766477;20094033;20404094;20937264;21044950;21145461;21209389;21355086;21906983;22863003;23251661;23616058;24250222;8619474;9110174 65057 Q96AP0;R4GMR6;R4GND4;R4GNJ5 ABBA01025451;AC010530;AF070535;AK023726;AK125623;AK301090;AMYH02032239;AY502940;AY971883;BC016904;CH471092;DB040017;NM_001082486;NM_001082487;NM_022914;XM_005256115;XR_429727;XR_429728 AAH16904;AAS80318;AAX82621;BAB14658;BAG62692;EAW83154;EAW83155;NP_001075955;NP_001075956;NP_075065;Q96AP0;XP_005256172 Hs.78019 1649461;1684624;1797134;2170058 LOC24432;RH64901;RH78775;SHGC-61086 PIP1;PTOP;TINT1;TPP1 OTTHUMP00000174851;OTTHUMP00000174852;POT1 and TIN2 organizing protein;POT1 and TIN2-interacting protein;TIN2 interacting protein 1;adrenocortical dysplasia protein homolog APPROVED protein-coding ENSG00000102977 HGNC:25070 12417 609377 REVIEWED 1346570 ACER3 alkaline ceramidase 3 ENCODES a protein that exhibits phytoceramidase activity; INVOLVED IN phytosphingosine biosynthetic process; positive regulation of cell proliferation; sphingosine biosynthetic process; PARTICIPATES IN sphingolipid metabolic pathway; FOUND IN integral component of endoplasmic reticulum membrane; integral component of Golgi membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; kojic acid 11 11 11 q13.5 73879386 74042342 + 76571917 76734850 + 76860873 77023806 + 1580863;6480464;6907045 11356846;12477932;14702039;15489334;17207965;18619555;19322201;19834535;19913121;20068046;20379614;20628086;20706999 55331 B7Z2Q2;B7Z2V2;E9PIN9;E9PKR3;E9PL35;E9PLZ9;E9PR08;J3KN85;Q9NUN7 ABBA01017443;ABBA01017444;ABBA01017445;AF214454;AF327353;AI885537;AK002100;AK293800;AK294978;AK295142;AK295327;AK308856;AK315000;AK316120;AMYH02025129;AMYH02025130;AP000752;AP002498;AP003119;BC049837;BC063034;BC073853;BG702017;CH471076;DB461413;KC877444;KF455419;NM_001300953;NM_001300954;NM_001300955;NM_018367;XM_005274087;XM_005274089;XM_005274090;XM_005274092 AAH73853;AAK71923;AAL56013;ADQ31994;BAA92085;BAG37496;BAH11598;BAH11938;BAH11988;BAH12032;BAH14491;EAW75009;EAW75010;EAW75011;EAW75012;NP_001287882;NP_001287883;NP_001287884;NP_060837;Q9NUN7;XP_005274144;XP_005274146;XP_005274147;XP_005274149 Hs.23862;Hs.720248 1670644;1737037;1738029;2121746;2125447;2128213;2177539;5093432 A009O40;D11S2785;D11S3647;G32714;RH36071;RH47059;RH65512;WI-11295 APHC;FLJ11238;PHCA OTTHUMP00000228961;OTTHUMP00000228966;OTTHUMP00000228967;OTTHUMP00000229029;OTTHUMP00000229030;alkCDase 3;alkaline CDase 3;alkaline dihydroceramidase SB89;alkaline phytoceramidase;phytoceramidase, alkaline protein-coding HGNC:16066 17844 VALIDATED 1347174 ACE2 angiotensin I converting enzyme 2 The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. The organ- and cell-specific expression of this gene suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronaviruses SARS and HCoV-NL63. [provided by RefSeq, Jul 2008] X X X p22 19694648 19735682 - 15579156 15620192 - 15561033 15602069 - 1581742;1581931;1576349;1580863;1558664;1642828;2313796;2313798;2313800;2313797;2313799;2325210;4140485;4140483;6480464;6907045;8548898;8548900;8554872 15486224;15638741;15671045;16459167;16520407;17977916;18235039;18679036;18753062;19034303;19077419;19212105;20465954;20581171;21792177 10924499;10969042;11815627;12025971;12075344;12459472;12477932;12967627;12975309;14647384;14670965;14754895;15084671;15141377;15151696;15165741;15231706;15233982;15276642;15283675;15361769;15380922;15452268;15489334;15640278;15769906;15791205;15897467;15937940;15979045;15983030;16001071;16006956;16055515;16088128;16166094;16166518;16211375;16215952;16283142;16315782;16338465;16510163;16574921;16647014;16690935;16866021;16912312;16962475;17037534;17037543;17037544;17037581;17079315;17303661;17473847;17504232;17703127;17897017;17906677;18022600;18029348;18070603;18164957;18208662;18223023;18223027;18223028;18258853;18279660;18310257;18343844;18389211;18441099;18448527;18490652;18496132;18502721;18554741;18560893;18660448;18814896;18926157;18931070;19020433;19021774;19051693;19056867;19067252;19077694;19136547;19141296;19164471;19164480;19286756;19286757;19289653;19297479;19411314;19461648;19684612;19700132;19716087;19864379;19901337;19913121;19924243;19926873;19934006;20060185;20117248;20117991;20134095;20142028;20160196;20204277;20224560;20349406;20484496;20541774;20559404;20592051;20628086;20660625;20674894;20679547;20692300;20703229;20798044;20813695;20831027;20854388;21052031;21068237;21072744;21115782;21189404;21265092;21316680;21346373;21411533;21457402;21490025;21670585;21814048;21864606;21880865;21946695;21952934;21963832;21993363;22025374;22033511;22048948;22179088;22291007;22297693;22475818;22523556;22629438;22647782;22718567;22749485;22750422;23077079;23091417;23144053;23230080;23328447;23488800;23545945;23630610;23816468;23893738;23921915;24014829;24054336;24100303;24134599;24142614;24147777;24158104;24168260;24172901;24191856;24227843;24342297;24564768;24838502 59272 Q9BYF1 AB046569;AB193259;AB193260;ABBA01071320;ABBA01071321;ABBA01071322;ABBA01071323;ABBA01071324;ABBA01071325;AC097625;AF241254;AF291820;AF366352;AK026461;AK315144;AL110224;AMYH02038914;AX047758;AX418982;AX431513;AY217547;AY358714;AY623811;BC032938;BC039902;BC048094;BC048144;BC059378;CH471074;GQ262784;NG_012575;NM_021804 AAF78220;AAF99721;AAH39902;AAH48094;AAO25651;AAQ89076;AAT45083;ACT66268;BAB40370;BAD99266;BAD99267;BAG37592;CAB53682;CAC18991;CAD35458;CAD37288;EAW98891;EAW98892;NP_068576;Q9BYF1 Hs.178098 1685610;1756197;1797262;2133063 ACE2_1659;DXS7698;RH92830;SHGC-143063 ACEH;DKFZp434A014 ACE-related carboxypeptidase;OTTHUMP00000022963;angiotensin I converting enzyme (peptidyl-dipeptidase A) 2;angiotensin-converting enzyme 2;angiotensin-converting enzyme homolog;metalloprotease MPROT15;peptidyl-dipeptidase A APPROVED protein-coding ENSG00000130234 HGNC:13557 02274 300335 REVIEWED 1344470 ACER1 alkaline ceramidase 1 Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010] 19 19 19 p13.3 6245303 6272430 - 6306510 6333640 - 6306499 6333629 - 1580863;6480464;6907045;8554872 11915342;12477932;12783875;15489334;16477081;17562024;17713573 125981 Q8TDN7 ABBA01055969;ABBA01055970;ABBA01055971;ABBA01055972;ABBA01055973;ABBA01055974;AC011491;AC114268;AF347024;AMYH02035349;AMYH02035350;BC112122;BC112124;CH471139;CU449837;NM_133492 AAI12123;AAI12125;AAL83822;EAW69104;EAW69105;NP_597999;Q8TDN7 Hs.352609 ALKCDase1;ASAH3;MGC138327;MGC138329 N-acylsphingosine amidohydrolase (alkaline ceramidase) 3;N-acylsphingosine amidohydrolase 3;acylsphingosine deacylase 3;alkCDase 1;alkaline CDase 1 APPROVED protein-coding HGNC:18356 12496 613491 VALIDATED 1353412 ACHAP acetylcholinesterase-associated protein 42 HGNC:107 1312176 ACER2 alkaline ceramidase 2 The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010] 9 9 9 p22.1 19335075 19378570 + 19408925 19452618 + 19408927 19452620 + 6480464;6907045;8554872 12477932;15164053;15489334;15498874;16940153;18945876;20089856;20379614;20628055;24708996 340485 B3KVV5;Q5QJU3 ABBA01065196;AF370405;AK123581;AL158206;AL391834;AMYH02019264;AY312516;BC092487;CH471071;NM_001010887;XM_005251447;XM_005251448;XR_242505;XR_242506;XR_242507 AAH92487;AAQ15241;AAQ85132;BAG53917;EAW58634;NP_001010887;Q5QJU3;XP_005251504;XP_005251505 Hs.41379 1647973;2218256 ASAH3L_4379;STS-H90280 ALKCDase2;ASAH3L;FLJ41587;haCER2 N-acylsphingosine amidohydrolase 3-like;OTTHUMP00000021124;acylsphingosine deacylase 3-like;alkCDase 2;alkaline CDase 2;ceramide hydrolase APPROVED protein-coding HGNC:23675 16512 613492 VALIDATED 737323 ACE angiotensin I converting enzyme This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010] 17 17 17 q23.3 55942475 55963778 + 61554422 61575741 + 63477061 63498380 + 1581742;1566491;1566498;1598433;1300340;1331525;1601113;1601115;1580863;1601114;1300243;2313799;4140923;4140922;4140920;4140480;2325220;2325221;4140486;2325224;2325227;2325229;2325231;2325232;2325226;2325207;2325213;2325225;2311449;2325208;4140933;2325211;4140915;2325215;4140485;4140914;4140916;4140917;4140918;4140930;4140487;4140925;4140478;4140913;4140488;4140919;4140912;2325233;4140483;4140926;5129168;6480464;6893480;6893484;6893483;6893472;6903283;6893481;6893471;6907045;7240710;8157609;8548889;7829785;8142355;8157602;8157608;8548872;7829800;7829810;8548864;8157600;7829770;8142370;8548894;7829783;8142353;7829799;8142349;8142364;8158033;8548866;8142345;8142348;8142351;8142360;7257515;8142368;7829777;7401223;8142344;8142363;7829780;7829794;8548885;8142350;8548898;8548899;7829797;8157611;8554872;8699517 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1636 B4DKH4;D3DU13;F6X3S4;J3KRH5;J3KRQ0;J3KS28;J3KSQ5;J3KTB8;J3KTH9;J3QKZ3;J3QLR4;J3QRX8;J3QSC7;L7MUH0;P12821 A31567;AB208971;ABBA01035331;AC113554;AF118569;AF229986;AK296566;AK300516;AK301988;AK302019;AK309514;AMYH02033775;AY436326;AY999972;AY999973;BM908180;BM908222;CH471109;EU332840;J04144;JQ927553;M26657;M29981;NG_011648;NM_000789;NM_001178057;NM_152830;S81361;X16295;XM_005257110;XM_006721737 AAA51684;AAA60611;AAD14360;AAD28560;AAD28561;AAR03504;ABA39228;ABA39229;ABY87529;AFK65504;BAD92208;BAG59186;BAG62228;BAG63395;BAG63418;CAA02045;CAA34362;EAW94311;EAW94312;EAW94313;EAW94314;EAW94315;EAW94316;EAW94317;EAW94318;EAW94319;EAW94320;EAW94321;NP_000780;NP_001171528;NP_690043;P12821;XP_005257167;XP_006721800 Hs.298469 1721485;1741939;1745685;1745687;1794286;1794288;1852474;2117682;2155720;5017675 ACE;G59596;GDB:186915;GDB:631883;GDB:631894;PMC310924P2;PMC310924P3;RH17589;SHGC-175;SHGC-57821 ACE1;CD143;DCP;DCP1;ICH;MGC26566;MVCD3 CD143 antigen;OTTHUMP00000206956;angiotensin 1 converting enzyme 1;angiotensin I converting enzyme (peptidyl-dipeptidase A) 1;angiotensin I converting enzyme peptidyl-dipeptidase A 1 transcript;angiotensin converting enzyme, somatic isoform;angiotensin-converting enzyme;carboxycathepsin;dipeptidyl carboxypeptidase 1;dipeptidyl carboxypeptidase I;kininase II;peptidase P;testicular ECA 1643091 BP90_H APPROVED protein-coding ENSG00000159640 HGNC:2707 00108 104300;106180;267430;612624;614519 REVIEWED 1353263 ACHM1 achromatopsia (rod monochromacy) 1 ASSOCIATED WITH Achromatopsia 3 (inferred); Stargardt disease 1 (inferred) 7240710 1347967 6021 HGNC:109 248200;262300 735878 ACHE acetylcholinesterase (Yt blood group) Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq, Jul 2008] 7 7 7 q22 95218191 95224120 - 100487615 100493754 - 100889994 100896914 - 1300048;1580863;1300342;1300297;1300239;2312424;2312432;2312438;2301195;2312430;2301197;2312437;5509843;5509844;5509842;5509846;5509847;5509849;5509850;5688128;5688055;5688130;6480464;5688131;5510037;5688054;5688133;5688127;6907045;8551790;8549506;8554872 10087275;11403956;126256;1385785;16581404;17657467;17786266;17986328;19296211;19303406;19374834;19453088;19474411;20053170;20088621;20464061;20645790;21303225;21921108;21991983;24508992;2658981;2953866;334962;704405;734904;7634486 10800960;10837146;11002295;11053835;11239002;11283752;11799248;11804574;12009429;12069617;12081473;12140295;12427014;12466963;12477932;12524166;12548360;12604711;12609505;12690205;12769797;12811800;12851386;12853948;12928915;12963741;1380483;1391965;14766237;15060281;15078872;15123727;15161650;1517212;15454088;15459952;15474030;15488495;15526038;15629887;15690550;15715671;15783300;15974894;15974920;1609795;16213467;16256091;16256968;16262697;16289501;16375580;16429485;16516310;16801396;16832351;16909200;16996687;17192624;17192630;17192673;17272501;17320203;17335779;17370251;1744105;17476278;1748670;17503475;17606622;17702992;17729290;17948252;17984143;18161504;18194455;18215127;18258603;18299393;18344198;18454940;18457821;18470725;18612832;18769671;18780301;19019080;19051205;19086053;19156168;19185568;19294450;19327769;19371630;19371631;19468687;19730683;19912576;19913121;20138030;20156100;20173328;20193849;20338155;20356562;20398640;20398908;20431033;20433814;20529763;20602615;20628086;20883446;20964587;21274871;21377978;21473860;21490949;21493754;21530001;21576115;21621296;21730071;21795704;22142546;22560633;2263619;22805525;22990020;23047022;23047027;23063927;23072732;23119107;23440190;23466605;23583979;23711548;23748235;23897820;23936791;23974008;23981668;24249815;24402754;24594013;2714437;2734315;3319614;3954986;7085778;7836436;8125298;8248502;8280063;8299725;8349597;8449945;8460160;8488842;9579781;9640563;9689136;9811904;9847074 43 C9J2S3;C9JD78;C9JUK5;C9JZL6;F8WAR7;F8WD34;F8WD68;P22303 ABBA01013176;AC011895;AF002993;AF312032;AF334270;AK223443;AK291321;AMYH02016392;AMYH02016393;AY389977;AY750146;BC001541;BC026315;BC036813;BC094752;BC105060;BC105062;BC143469;BG707892;CH236956;CH471091;KF510962;L06484;L42812;M55040;NG_007474;NM_000665;NM_001282449;NM_015831;S71129;XM_005250357;XM_005250358;XM_006715994;XM_006715995 AAA68151;AAC60618;AAH36813;AAI05061;AAI05063;AAI43470;AAK21003;AAO32948;AAP22364;AAP22365;AAR26654;AAU43801;BAD97163;BAF84010;EAL23812;EAL23813;EAW76460;EAW76461;EAW76462;EAW76463;EAW76464;NP_000656;NP_001269378;NP_056646;P22303;XP_005250414;XP_005250415;XP_006716057;XP_006716058 Hs.154495 1769989;2157266 RH17909;STS-M55040 ACEE;N-ACHE;YT ARACHE;OTTHUMP00000211345;OTTHUMP00000211346;OTTHUMP00000211347;OTTHUMP00000211349;OTTHUMP00000211356;Yt blood group;acetylcholinesterase;apoptosis-related acetylcholinesterase APPROVED protein-coding ENSG00000087085 HGNC:108 00010 100740;112100 REVIEWED 1353783 ACKR2 atypical chemokine receptor 2 This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 42788881 42846689 + 42850964 42908775 + 42809472 42867283 + 632634;1580863;6480464;8554872 9364936 10364178;10702689;10706668;10725696;10725697;10781587;11238036;11821900;12406880;12477932;12594248;12671049;15067078;15084596;15489334;16014924;16148;16344560;16814608;17607362;18201974;18676013;18708360;18714007;18822328;19074885;19446728;19632987;20147628;20237496;20404785;21151196;21832049;22226505;22796582;22797410;22867710;22939232;23251661;23314186;23462454;23479571;23633677;24013383;24644289;24699281;9139699;9405404 1238 O00590;Q7Z7I1;V9GYB7;V9GYM0;V9GYX0;V9GZ70 ABBA01024762;ABBA01024763;AC099329;AF481959;AK313561;AMYH02006630;AY262687;BC008816;BC011588;BC011631;BC018716;BC020558;BC101629;BC112045;BE901130;BT006800;CH471055;DA853159;DQ229109;HC006866;NM_001296;U94888;Y12815 AAB97728;AAH08816;AAH11631;AAH20558;AAI01630;AAI12046;AAP20651;AAP35446;AAP42156;ACE87069;BAG36335;CAA73346;CBH19238;EAW64678;EAW64679;EAW64680;EAW64681;NP_001287;O00590 Hs.146346 1655241;1689779;1699964;1739555;1792054;1852438;2111216;2112626;2128143;2138450;5106961;5492999 A007H30;D3S288;D3S3127;D3S3147;D3S3456;D3S4375;PMC135942P1;RH103592;RH11977;RH69845;RH80321;UniSTS:483590 CCBP2;CCR10;CCR9;CMKBR9;D6;MGC126678;MGC138250;hD6 C-C chemokine receptor D6;CC-chemokine-binding receptor JAB61;OTTHUMP00000164034;OTTHUMP00000209653;chemokine (C-C motif) receptor 9;chemokine (C-C) receptor 9;chemokine binding protein 2;chemokine receptor CCR-10;chemokine receptor CCR-9;chemokine receptor D6;chemokine-binding protein 2;chemokine-binding protein D6 APPROVED protein-coding ENSG00000144648 HGNC:1565 09095 602648 REVIEWED 1347611 ACKR1 atypical chemokine receptor 1 (Duffy blood group) The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q21-q22 132244749 132246528 + 159173803 159176290 + 159204013 159206500 + 1580863;6480464;6907045;7240710 10570183;11446431;11730271;11753822;11813069;12081195;12160521;12477932;12697152;12734373;12739041;12956774;13679391;15214968;15327416;15358176;15489334;15569072;15754970;15783300;15847654;16148;16372020;16710414;17073738;17207965;17382291;17416748;17880612;17903293;17955335;18067501;18093292;18230715;18248572;18460195;18510579;18608113;18621010;18710383;18804827;18827265;19048480;19060902;19064726;19180233;19206111;19290478;19336370;19454339;19454340;19454341;19454342;19620399;19822078;19913121;19927622;20040767;20162434;20199879;20231434;20347396;20431033;20560530;20588308;20596779;20628086;20655787;20655790;20664684;21088296;21151196;21156192;21507922;21784153;22037903;22075330;22082243;22097233;22123959;22207676;22291609;22744181;22910367;23017229;23028857;23168236;23224555;23251661;23259672;23347639;23462454;23753024;23820435;24260134;24981451;2892777;7517217;7592830;7663520;7689250;7705836;7833467;8248172;8542025;8889548;9058825;9195930;9731074;9746760;9886340;9921412 2532 Q16570;Q5JY94;Q5Y7A1;Q5Y7A2 ABBA01016620;AF030521;AF055992;AF100634;AK291593;AL035403;AMYH02002009;AY167991;AY663416;AY663417;AY663418;AY663419;AY663420;AY663421;AY663422;AY663423;AY663424;AY663425;AY663426;AY663427;AY663428;AY663429;AY663430;AY663431;AY663432;AY663433;AY747695;BC017817;BC095496;BM671230;BX537430;CA435450;CD701182;DQ181553;DQ181554;DQ181555;DQ181556;DQ181557;DQ181558;DQ181559;DQ181560;DQ181561;DQ181562;DQ181563;DQ181564;DQ181565;DQ181566;DQ181567;EL735542;JN251907;JN251908;JN251909;JN251910;JN251911;JN251912;JN251913;JN251914;JN251915;JN251916;JN251917;KF455042;NG_011626;NM_001122951;NM_002036;S76830;U01839;X85785 AAB33239;AAC50055;AAC72301;AAD20435;AAF02415;AAF02416;AAH17817;AAH95496;AAO11657;AAU47275;AAU47276;AAU47278;AAU47279;AAU47281;AAU47282;AAU47284;AAU47285;AAU47287;AAU47288;AAU47290;AAU47291;AAU47293;AAU47294;AAU47296;AAU47297;AAU47299;AAU47300;AAU47302;AAU47303;AAU47305;AAU47306;AAU47308;AAU47309;AAU47311;AAU47312;AAU47314;AAU47315;AAU47317;AAU47318;AAU47320;AAU47321;AAU47323;AAU47324;AAU47326;AAU47327;AAW71991;ABA10403;ABA10404;ABA10406;ABA10407;ABA10409;ABA10410;ABA10412;ABA10413;ABA10415;ABA10416;ABA10418;ABA10419;ABA10421;ABA10422;ABA10424;ABA10425;ABA10427;ABA10428;ABA10430;ABA10431;ABA10433;ABA10434;ABA10436;ABA10437;ABA10439;ABA10440;ABA10442;ABA10443;ABA10445;ABA10446;ABM82892;ABM86081;AET81017;AET81018;AET81019;AET81020;AET81021;AET81022;AET81023;AET81024;AET81025;AET81026;AET81027;AET81028;AET81029;AET81030;AET81031;AET81032;AET81033;AET81034;AET81035;AET81036;AET81037;AET81038;BAF84282;CAA59770;CAD97672;NP_001116423;NP_002027;Q16570 Hs.153381 1793642;2147181;2171832 IB2132;PMC24175P1;RH70526 CCBP1;CD234;DARC;Dfy;FY;GPD;GpFy;WBCQ1 Duffy antigen/chemokine receptor;Duffy blood group antigen;Duffy blood group, atypical chemokine receptor;Duffy blood group, chemokine receptor;Fy glycoprotein;OTTHUMP00000035293;OTTHUMP00000035294;OTTHUMP00000035295;atypical chemokine receptor 1;glycoprotein D;plasmodium vivax receptor APPROVED protein-coding ENSG00000213088 HGNC:4035 00192 611162;613665 REVIEWED 1323663 ACIN1 apoptotic chromatin condensation inducer 1 Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 14 14 14 q11.2 3390463 3427528 - 23527773 23564823 - 23058564 23095614 - 1580863;6480464;6907045;8554872 10490026;11208865;12393560;12477932;12665594;14729942;15302935;15324660;15998806;16051665;16083285;16159877;16169070;16177823;16314458;16537548;16964243;17081983;17332742;17370265;17409846;18029348;18250153;18951082;19322201;19387494;19454010;19471022;19596686;19615784;19668232;19759913;20195357;20639865;20800603;21139048;21145461;21693764;21890473;22113938;22174317;22365833;22388736;22446626;22586326;22939629;22952844;23084401;23205493;23602568;23752268;24250222;24444330;24457600;24550385;24639526;24654937;24816145;25027693;9734811 22985 B4DQZ7;E7EQT4;G3V3B0;G3V3T3;Q9UKV3;S4R3H4 AB014570;ABBA01061305;ABBA01061306;ABBA01061307;AF124726;AF124727;AF124728;AK299034;AL050382;AL117258;AL132780;AL833228;AMYH02028864;BC032770;BC140805;BX247975;CH471078;CX786860;NG_030461;NM_001164814;NM_001164815;NM_001164816;NM_001164817;NM_014977;XM_005267415;XM_005267416;XM_005267418;XM_006720081;XR_429295;XR_429296;XR_429297 AAD56724;AAD56725;AAD56726;AAI40806;BAA31645;BAG61109;CAB43681;CAD62309;CAH10608;EAW66186;EAW66187;EAW66188;NP_001158286;NP_001158287;NP_001158288;NP_001158289;NP_055792;Q9UKV3;XP_005267472;XP_005267473;XP_005267475;XP_006720144 Hs.124490 1738939;1771581;1771873;1847807;2183045;5491485 D14S791;G35632;MARC_15355-15356:1013456014:1;RH44611;SGC34831;WI-20153 ACN;DKFZp667N107;KIAA0670;fSAP152 ACINUS;OTTHUMP00000164548;OTTHUMP00000164549;OTTHUMP00000164550;OTTHUMP00000164551;OTTHUMP00000246163;OTTHUMP00000246164;apoptotic chromatin condensation inducer in the nucleus;functional spliceosome-associated protein 152 APPROVED protein-coding ENSG00000100813 HGNC:17066 05191 604562 REVIEWED 1343783 ACLS acrocallosal syndrome ASSOCIATED WITH Acrocallosal Syndrome (inferred); HYDROLETHALUS SYNDROME 2 (inferred) 7240710 46 HGNC:114 200990;614120 10065 ACLY ATP citrate lyase ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36674340 36725809 - 40023169 40086795 - 41866916 41930542 - 1304191;1300342;1580863;1300238;2317316;2317309;6480464;6907045 11735100;1371749;17882277;704404;734904 10653665;12477932;14681844;14702039;15302935;15489334;15592455;16009940;16196087;16751776;17081983;17353931;17550899;17955473;18029348;18660489;18681781;18781797;18922930;19019082;19056867;19296078;19380743;19461003;19738201;19795461;19946888;20558738;20615871;20693577;20800603;20811636;20877624;21081666;21139048;21145461;21320693;21454710;21726077;2176822;21832049;21853274;21890473;21906983;21963094;22053931;22102020;22266777;22505724;22586326;22657152;22718913;22787121;22797925;22863883;23000965;23125841;23225248;23314748;23506848;23807225;23862649;23886516;24051091;24132143;24310723;24337577;24399297;24550385;24583282;24654937;24816145;25027693;3305493;6109001;6801225;8088842;8944226;9116495 47 B4E3P0;K7EIE7;K7ESG8;P53396 AB210035;ABBA01006446;ABBA01006447;ABBA01006448;AC091172;AC125257;AK095084;AK295675;AK304802;AK312315;AMYH02033415;AMYH02033416;AMYH02033417;BC006195;BG037168;CH471152;DQ575356;NM_001096;NM_198830;U18197;X64330;XM_005257393;XM_005257394;XM_005257395 AAB60340;AAH06195;ADZ15525;BAC04484;BAE06117;BAG58532;BAG65552;CAA45614;EAW60777;EAW60778;EAW60779;EAW60780;EAW60781;NP_001087;NP_942127;P53396;XP_005257450;XP_005257451;XP_005257452 Hs.387567 1649425;1653211;1744147;1754031;2125868;2158744;2184349;2184417 D17S1205;D17S1209;D17S2155;GDB:392280;SHGC-11986;SHGC-132072;WI-19716;WI-20027 ACL;ATPCL;CLATP ATP citrate synthase;ATP-citrate (pro-S-)-lyase;ATP-citrate synthase;OTTHUMP00000164772;OTTHUMP00000164773;citrate cleavage enzyme APPROVED protein-coding ENSG00000131473 HGNC:115 00155 108728 REVIEWED 1602221 ACKR4 atypical chemokine receptor 4 The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013] 3 3 3 q22 130742371 130746875 + 132316081 132321488 + 132597237 132602644 + 6480464 10706668;10734104;10767544;11134065;11981810;12477932;15489334;16148;16791897;19383822;21988832;23121557;23251661;23314186;23341447;23462454;24260134;8125298;9469451 51554 H0Y9Z2;Q9NPB9 ABBA01059184;ABBA01059185;AC020632;AF110640;AF193507;AF233281;AK225927;AK304461;AK313923;AMYH02007689;AY221094;BC069438;BC095501;BQ015927;DC419249;HC305272;NM_016557;NM_178445 AAF44751;AAF59827;AAF61299;AAH69438;AAH95501;AAO65972;BAG36644;BAG65277;CBJ18620;NP_057641;NP_848540;Q9NPB9 Hs.310512;Hs.743547 1298229;1797360 CCRL1_2475;D6S2427 CC-CKR-11;CCBP2;CCR-11;CCR10;CCR11;CCRL1;CCX CKR;CCX-CKR;CKR-11;PPR1;VSHK1 C-C CKR-11;C-C chemokine receptor type 11;CC chemokine receptor-like 1;OTTHUMP00000216426;OTTHUMP00000217053;chemocentryx chemokine receptor;chemokine (C-C motif) receptor-like 1;chemokine, cc motif, receptor-like protein 1;orphan seven-transmembrane receptor, chemokine related APPROVED protein-coding ENSG00000129048 HGNC:1611 07298 606065 REVIEWED 1343702 ACKR3 atypical chemokine receptor 3 This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 231191070 231203687 + 237469424 237491001 + 236560781 236582358 + 1580863;6480464 10623723;12118328;12477932;1315461;15489334;15815621;16107333;16148;16455976;1662665;1675791;16940167;17363734;17474147;17898181;18057003;18214534;18240029;18577758;18653785;18956235;19309748;19525223;19641136;19794961;20018651;20036838;20056178;20068066;20109310;20161793;20233927;20380740;20388803;20525755;20529825;20578990;20617529;20861157;20887389;20889540;20956518;21316111;21349998;21398406;21627360;21655198;21695171;21730065;21778049;21857817;21906874;21963094;21986127;22070874;22083878;22088972;22152016;22173725;22180778;22232208;22266857;22300987;22457824;22472349;22524658;22525723;22531719;22645275;22736438;22736769;22745793;22916293;22956548;22978759;22987307;23000965;23039915;23070788;23244149;23244336;23279723;23344887;23352615;23555768;23599431;23636305;23677384;23773308;23865743;23894550;23921147;23979133;24002596;24040160;24074251;24116850;24184476;24191282;24255072;24259140;24277075;24363762;24416254;24819308;25015289;2834384;8198609 57007 P25106 ABBA01042574;AC079611;AF030297;AK291659;AMYH02006056;BC008459;BC036661;BM925428;BP426139;CH471063;DB455412;DQ822477;JA643399;JA643405;M64749;NM_020311;U67784;U73141;XM_005246097;XM_005246098;XM_006712640 AAA62370;AAB16913;AAB18130;AAB94130;AAH36661;AAX93086;ABH01258;ABM82167;ABM85352;BAF84348;CCE67098;CCE67101;EAW71092;NP_064707;P25106;XP_005246154;XP_005246155;XP_006712703 Hs.471751 1656853;2166969 RH78466;SHGC-57926 CMKOR1;CXC-R7;CXCR-7;CXCR7;GPR159;RDC-1;RDC1 C-X-C chemokine receptor type 7;G protein-coupled receptor;G-protein coupled receptor 159;G-protein coupled receptor RDC1 homolog;OTTHUMP00000164411;OTTHUMP00000203011;chemokine (C-X-C motif) receptor 7;chemokine orphan receptor 1 APPROVED protein-coding ENSG00000144476 HGNC:23692 09882 610376 REVIEWED 10067 ACO1 aconitase 1, soluble The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014] 9 9 9 p21.1 32314541 32380796 + 32384601 32450834 + 32384603 32450836 + 1300343;1580863;1300239;6480464;6907045 704405;734906 10419470;10944468;11783942;11812787;12196178;12477932;12572667;12855587;12972614;15099026;15342556;15349772;15489334;15543932;15938636;16027165;16144863;16344560;16407072;16424901;16503547;16527810;17127713;17200797;17242182;17244191;1738601;17521334;17604281;17613866;17877204;18029348;18262302;1903202;19056867;1946430;19688112;19762596;19762597;20354189;20558735;20569198;20574843;20877624;21139048;21360641;2172968;21832049;21890473;21906983;21963094;22020773;22331484;22502979;22505724;22544036;22561531;22863883;22939629;23000965;23382691;23615448;23817740;23935819;24778179;2771641;8041788;8262977;8764614;9020582 48 P21399;Q5VZA6;Q9HBB2;V9HWB7 AB209480;ABBA01065085;ABBA01065086;AF261088;AK057904;AK308752;AL161783;AMYH02019407;BC018103;BP287929;CH471071;DA103947;DA409113;DA780353;DQ496106;EU794627;M58510;NM_001278352;NM_002197;XM_005251476;XM_006716777;Z11559 AAA69900;AAF99681;AAH18103;ABF47095;ACJ13681;BAD92717;CAA77651;EAW58549;EAW58550;EAW58551;EAW58552;NP_001265281;NP_002188;P21399;XP_005251533;XP_006716840 Hs.567229 1653876;1715089;1763049;1774810 D9S1955;RH119496;RH70753;SHGC-146792 HEL60;IRE-BP 1;IREB1;IREBP1;IRP1 ACONS;IREBP;OTTHUMP00000021176;OTTHUMP00000021177;aconitate hydratase;aconitate hydratase, cytoplasmic;citrate hydro-lyase;cytoplasmic aconitate hydratase;epididymis luminal protein 60;ferritin repressor protein;iron regulatory protein 1;iron-responsive element binding protein 1;iron-responsive element-binding protein;iron-responsive element-binding protein 1 APPROVED protein-coding ENSG00000122729 HGNC:117 00013 100880 REVIEWED 732597 ACMSD aminocarboxymuconate semialdehyde decarboxylase The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004] 2 2 2 q21.3 129309109 129372527 + 135595994 135659604 + 134838430 134902076 + 632265;1580863;6480464;6907045;8554872 12140278 12477932;15489334;16189514;19843166;21292315;23251661;23955123 130013 Q6ZV40;Q8TDX5 AB071418;ABBA01028189;ABBA01028190;AC016725;AK125008;AMYH02004835;AMYH02004836;BC016018;BC107420;BG428338;CH471058;NM_138326;XM_005263586;XM_005263587;XM_005263588;XM_005263589;XM_005263590 AAH16018;AAI07421;AAY14997;BAB86938;BAC86023;EAX11649;EAX11650;EAX11651;EAX11652;NP_612199;Q8TDX5;XP_005263643;XP_005263644;XP_005263645;XP_005263646;XP_005263647 Hs.655728 1697088;1761409;2114552;2116378;2173950 Cda11f02;RH102026;SHGC-145418;SHGC-36425;WI-14557 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase;OTTHUMP00000162500;OTTHUMP00000162501;picolinate carboxylase APPROVED protein-coding ENSG00000153086 HGNC:19288 12326 608889 VALIDATED 733187 ACO2 aconitase 2, mitochondrial The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 25671513 25731364 + 41865099 41924993 + 41469125 41528989 + 1300344;1580863;1300048;2306877;6480464;6907045;8699517;7240710;8554872 734909;9712727 1052766;10591208;11258795;12198491;12477932;12601813;12746427;14972331;15461802;15489334;15952740;1602151;16159877;16236267;16598741;16625280;16713569;18029348;18781797;19110265;19405953;1946331;19524665;19738201;20301317;20607720;20877624;21139048;21832049;21890473;22405087;22623428;22939629;23000965;23550275;23709747;24337577;24429287;24583282;24654937;24816145;25027693;7192199;752476;752478;752479;8443405;879710;9020582;9630632 50 A2A274;B4DJW1;B4DW08;Q99798 AA724140;ABBA01055639;ABBA01055640;ABBA01055641;ABBA01055642;AF093096;AK293562;AK296260;AK297213;AK301321;AK302691;AK314845;AL008582;AL023553;AMYH02038440;AMYH02038441;BC014092;BC026196;CH471095;CR456365;CR536568;NG_032143;NM_001098;U80040;U87926;U87927;U87928;U87929;U87930;U87931;U87932;U87933;U87934;U87935;U87936;U87937;U87938;U87939 AAB38416;AAC39921;AAD19351;AAH14092;AAH26196;ABM84600;ABM86762;BAG37362;BAG57034;BAG58973;BAG59696;BAG62870;BAG63920;CAG30251;CAG38805;CAK54363;CAK54662;EAW60435;EAW60436;NP_001089;Q99798 Hs.643610 1648242;1674500;1676051;1690041;1744321;1770293;2122822;2161054;2191721;5020337 A007B26;D22S1253;D22S678;D22S998E;GDB:451682;MARC_5597-5598:1044046898:1;RH11189;RH11380;RH47879;RH48483 ICRD;MGC20605;MGC33908 ACONM;OTTHUMP00000165920;OTTHUMP00000165921;aconitate hydratase, mitochondrial;citrate hydro-lyase;mitochondrial aconitase (nuclear aco2 gene) APPROVED protein-coding ENSG00000100412 HGNC:118 00012 100850;614559 REVIEWED 1313002 ACN9 ACN9 homolog (S. cerevisiae) INVOLVED IN regulation of gluconeogenesis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrial intermembrane space (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; cobalt dichloride 7 7 7 q21.3 91439813 91504987 + 96745905 96811075 + 97116593 97181763 + 1580863;6480464;8554872 10103055;12477932;12690205;12853948;15489334;18163977;19913121;20628086;20877624;23719583 57001 F8W9V1;Q9NRP4 ABBA01045754;AC073421;AC073900;AF201933;AMYH02016315;BC020621;BC022858;BC028409;CD557710;CH236949;CH471091;NM_020186 AAF86869;AAH20621;AAH22858;AAS07570;EAL24120;EAW76739;EAW76740;NP_064571;Q9NRP4 Hs.592269 1688606;1851020;2163992 D7S702;G17183;RH92173 DC11 OTTHUMP00000204979;protein ACN9 homolog, mitochondrial protein-coding ENSG00000196636 HGNC:21752 16471 615773 VALIDATED 736721 ACOT12 acyl-CoA thioesterase 12 ENCODES a protein that exhibits acetyl-CoA hydrolase activity (ortholog); INVOLVED IN acyl-CoA metabolic process (ortholog); PARTICIPATES IN pyruvate metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; cyclosporin A 5 5 5 q14.1 76530237 76594485 - 80625731 80689988 - 81329921 81394169 - 1300048;6480464;6907045;8554872 11322891;12477932;12767336;14702039;15489334;16103133;16951743;20379614;22863734 134526 Q8WYK0 AB078619;ABBA01062055;AC008411;AC010623;AK122960;AMYH02011681;AMYH02011682;AMYH02011683;BC075010;BC075011;BC089437;CH471084;NM_130767;XM_006714531;XM_006714532 AAH75010;AAH75011;AAH89437;BAB84022;BAG53821;EAW95874;EAW95875;NP_570123;Q8WYK0;XP_006714594;XP_006714595 Hs.591756 5093356 G32671 CACH-1;Cach;MGC105114;STARD15;hCACH-1 OTTHUMP00000161980;START domain-containing protein 15;StAR-related lipid transfer (START) domain containing 15;THEAL;acyl-CoA thioester hydrolase 12;acyl-coenzyme A thioesterase 12;cytoplasmic acetyl-CoA hydrolase 1;cytoplasmic acetyl-coa hydrolase;cytosolic acetyl-CoA hydrolase protein-coding ENSG00000172497 HGNC:24436 16680 614315 VALIDATED 1605748 ACOT1 acyl-CoA thioesterase 1 ENCODES a protein that exhibits acyl-CoA hydrolase activity; INVOLVED IN acyl-CoA metabolic process; long-chain fatty acid metabolic process; very long-chain fatty acid metabolic process; FOUND IN cytosol; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 14 14 14 q24.3 33178727 33185623 - 74003862 74010503 + 73537224 73543794 + 6480464 12477932;16103133;16940157;18029348;20736409;21890473;21963094;21987572;22939629;24654937 641371 E9KL42;G3V4F2;Q86TX2 ABBA01030756;AC005225;AC245368;AK300886;BC127747;BC127748;BC132889;BC132891;BC143042;BC144425;BX161396;DQ082754;GU727640;NM_001037161 AAI27748;AAI27749;AAI32890;AAI32892;AAI43043;AAI44426;AAZ31236;ADU87641;BAG62528;CAD61883;NP_001032238;Q86TX2 Hs.446685;Hs.568046 1653277;1740767;2110049;2112144;2116333;2138076;2138696 A002Q22;D14S1209;D14S1367;D14S646E;G35993;G38315;ZAP128_9204 ACH2;CTE-1;CTE-I;CTE-Ib;LACH2 OTTHUMP00000246588;OTTHUMP00000246589;acyl-coenzyme A thioesterase 1;inducible cytosolic acyl-coenzyme A thioester hydrolase;long chain acyl-CoA hydrolase;long chain acyl-CoA thioester hydrolase protein-coding ENSG00000184227 HGNC:33128 614313 VALIDATED 1317612 ACOT11 acyl-CoA thioesterase 11 This gene encodes a member of the acyl-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] 1 1 1 p32.3 53301456 53387997 + 55007930 55100417 + 54548134 54634744 + 6480464 11696000;12477932;14702039;15489334;16103133;16344560;19056867;19913121;20379614;20470824;20628086;21738568;22897136;8125298;9734811 26027 Q8WXI4 AB014607;ABBA01074711;ABBA01074712;AC099796;AF416921;AF416922;AK023937;AK091112;AK223570;AL590093;AL713723;AMYH02001054;AMYH02001055;AMYH02001056;AMYH02001057;AMYH02001058;BC001517;BC093844;BC093846;CH471059;DA121227;KF495953;KF495956;NM_015547;NM_147161 AAH01517;AAH93844;AAH93846;AAL40937;AAL40938;BAA31682;BAB14734;BAD97290;EAX06682;EAX06683;EAX06684;NP_056362;NP_671517;Q8WXI4 Hs.745173 1338206;1692222;1693232;2106719;2142480;5015881;5015961;5037552;5118576;7184044 AL033560;AL033766;D11S3430;D15S1477;D3S1611;D8S2279;GDB:335751;SHGC-74880;THEA__5252 BFIT;BFIT1;BFIT2;DKFZp667O1916;KIAA0707;STARD14;THEA;THEM1 OTTHUMP00000011526;OTTHUMP00000011527;START domain containing 14;StAR-related lipid transfer (START) domain containing 14;acyl-CoA thioester hydrolase 11;acyl-coenzyme A thioesterase 11;adipose-associated thioesterase;brown fat inducible thioesterase;brown fat-inducible thioesterase;thioesterase superfamily member 1;thioesterase, adipose associated APPROVED protein-coding ENSG00000162390 HGNC:18156 07075 606803 REVIEWED 1605747 ACOT6 acyl-CoA thioesterase 6 ENCODES a protein that exhibits carboxylic ester hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN cytosol; INTERACTS WITH benzo[a]pyrene (ortholog); ethanol (ortholog); perfluorooctanoic acid (ortholog) 14 14 14 q24.3 54119631 54122671 + 74083548 74086592 + 73616844 73619888 + 6480464 12477932;16103133;16940157;21822266 641372 G3V3W6;Q3I5F7 ABBA01030750;AC005225;AC245368;BC126378;BC126380;CH471061;DQ082756;NM_001037162 AAI26379;AAI26381;AAZ31238;ADR82840;EAW81122;NP_001032239;Q3I5F7 Hs.122038 2124845 G38172 C14orf42;MGC161656;MGC161658;c14_5530 OTTHUMP00000246593;putative acyl-CoA thioesterase 6;putative acyl-coenzyme A thioesterase 6 protein-coding ENSG00000205669 HGNC:33159 614267 VALIDATED 1605691 ACOT2 acyl-CoA thioesterase 2 This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 14 14 14 q24.3 54071870 54078454 + 74034324 74042362 + 73567620 73575658 + 1625728;2315862;2315861;6480464;8554872 15292030;16979414;17438340 10944470;12477932;12665801;14702039;15007068;15489334;16103133;16940157;17353931;19497300;20178365;20379614;20877624;21139048;21890473;21963094;21987572;7596406;8125298 10965 B3KSA0;P49753 ABBA01030752;AC005225;AC245368;AI537078;AK001939;AK093131;AK223635;AY005822;BC004436;BC006335;BC006500;DQ082755;L40401;NM_006821;NR_046028;XM_006720007 AAC42007;AAF97985;AAH04436;AAH06335;AAH06500;AAZ31237;ABM84414;ABM87405;BAA91989;BAD97355;BAG52662;NP_006812;P49753;XP_006720070 Hs.446685 1653277;1740767;2110049;2112144;2112152;2116333;2138696 A002Q22;D14S1209;D14S1367;D14S1377;D14S646E;G38315;ZAP128_9204 CTE-IA;CTE1A;MTE1;PTE2;PTE2A;ZAP128 OTTHUMP00000246591;acyl-coenzyme A thioester hydrolase 2a;acyl-coenzyme A thioesterase 2, mitochondrial;long-chain acyl-CoA thioesterase 2;mitochondrial acyl-CoA thioesterase 1;mitochondrial acyl-CoA thioesterase 2;peroxisomal long-chain acyl-coA thioesterase 2 APPROVED protein-coding ENSG00000119673 HGNC:18431 10173 609972 VALIDATED 70372 ACOT8 acyl-CoA thioesterase 8 The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010] 20 20 20 q13.12 41180856 41196530 - 44470360 44486048 - 45841721 45857409 - 1580863;6480464;8554872 10092594;10799608;10807905;10944470;11549316;11755680;11780052;12477932;14702039;14709540;15194431;15489334;16009940;16103133;16141203;16335799;16756494;16940157;17314511;17624024;20178365;21139048;21824805;22002062;22190034;22810585;23540296;24457600;24654937;24816145;9153233;9299485 10005 E9PIS4;E9PJN0;E9PMC4;E9PRD4;F6VBM3;H0Y698;H7C5A7;O14734;Q9BR14 ABBA01052667;ABBA01052668;AF014404;AF124264;AK056668;AK292494;AK296973;AK298783;AL008726;AMYH02037154;BC117155;BC117157;BI911038;BM986979;CH471077;CR541771;CR541778;DB470803;KF456922;NM_005469;X86032;XM_005260239;XM_005260240;XR_244130 AAB71665;AAD27616;AAI17156;AAI17158;ADR82946;BAF85183;BAG51780;BAG59516;BAG60922;CAA60024;CAG46570;CAG46577;EAW75794;EAW75795;EAW75796;EAW75797;EAW75798;NP_005460;O14734;XP_005260296;XP_005260297 Hs.444776 1678925;1848243;2118627;2152180 D20S569E;RH12567;RH71172;RH80960 PTE-1;PTE-2;PTE1;PTE2;hACTE-III;hACTEIII;hTE 4,8-dimethylnonanoyl-coa thioesterase;HIV-Nef associated acyl-CoA thioesterase;HIV-Nef-associated acyl-CoA thioesterase;HNAACTE;OTTHUMP00000031675;OTTHUMP00000214962;acyl-coenzyme A thioesterase 8;choloyl-CoA hydrolase;choloyl-coenzyme A thioesterase;long-chain fatty-acyl-CoA hydrolase;palmitoyl-CoA hydrolase;peroxisomal acyl-CoA thioesterase 1;peroxisomal acyl-coenzyme A thioester hydrolase 1;peroxisomal long-chain acyl-CoA thioesterase 1;thioesterase II;thioesterase III APPROVED protein-coding ENSG00000101473 HGNC:15919 06998 608123 REVIEWED 733878 ACOT7 acyl-CoA thioesterase 7 This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p36 5438842 5568337 - 6324332 6453826 - 6264272 6393766 - 6480464 10578051;12435388;12477932;14702039;15489334;15592755;15731883;16103133;16710414;16713569;18029348;19056867;19305408;19724895;19851296;20198315;21044950;21110914;21139048;21319273;21890473;21906983;21963094;22053931;22505724;22863883;23000965;24816145;25027693 11332 B4DUX0;K7EKP8;O00154 AB074415;AB074416;AB074417;AB074418;AB074419;ABBA01035443;ABBA01035444;ABBA01035445;ABBA01035446;ABBA01035447;ABBA01035448;AK057168;AK289572;AK290097;AK291583;AK292202;AK300831;AK304465;AL031847;AL031848;AL702662;AMYH02000171;AMYH02000172;AMYH02000173;AMYH02000174;BC017365;BG332214;BM807217;BQ067921;BT006888;BU594651;CH471130;D88894;NM_007274;NM_181864;NM_181865;NM_181866;U91316;XM_005263427 AAB61211;AAH17365;AAP35534;BAA24350;BAC20174;BAC20175;BAC20176;BAC20177;BAC20178;BAF82261;BAF82786;BAF84272;BAF84891;BAG51874;BAG62482;BAH14193;EAW71527;EAW71528;EAW71529;EAW71530;EAW71531;EAW71532;NP_009205;NP_863654;NP_863655;NP_863656;O00154;XP_005263484 Hs.126137 1341964;1679433;1730157;1732792;1740163;1757005;1759051;2110281;2112928;2136274;5017512;5023485 ACOT7;BACH_9265;D1S1250;D1S2335E;D1S253;D1S2531;D1S3703;RH91132;SHGC-144364;SHGC-151038;SHGC-74153;STS-W44582 ACH1;ACT;BACH;CTE-II;LACH;LACH1;MGC1126;RP1-120G22.10;hBACH CTE-IIa;OTTHUMP00000001410;OTTHUMP00000001413;OTTHUMP00000001414;OTTHUMP00000001415;OTTHUMP00000200492;OTTHUMP00000200493;acyl-CoA thioesterase 2;acyl-CoA thioesterase, long chain;brain acyl CoA hydrolase;brain acyl-CoA hydrolase;cytosolic acyl coenzyme A thioester hydrolase;long chain acyl-CoA thioester hydrolase APPROVED protein-coding ENSG00000097021 HGNC:24157 12517 602587 REVIEWED 1605006 ACOT4 acyl-CoA thioesterase 4 ENCODES a protein that exhibits acyl-CoA hydrolase activity; receptor binding; succinyl-CoA hydrolase activity; INVOLVED IN acyl-CoA metabolic process; dicarboxylic acid catabolic process; dicarboxylic acid metabolic process; FOUND IN peroxisome; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; coumestrol 14 14 14 q24.3 54094503 54098556 + 74058410 74062470 + 73591659 73595766 + 6480464 10567408;10944470;12477932;14702039;15489334;16103133;16141203;16940157;18029348;20178365;7596406 122970 Q8N9L9 ABBA01030751;AC005225;AC245368;AK055797;AK094223;BC031799;BC090945;BC117341;BC117343;BX248023;BX248047;CH471061;NM_152331;XM_006720034 AAH31799;AAH90945;AAI17342;AAI17344;BAB71017;BAC04313;CAD62346;CAD62354;EAW81120;EAW81121;NP_689544;Q8N9L9;XP_006720097 Hs.49433 2217868 PTE2B_3639 PTE-2b;PTE-Ib;PTE1B;PTE2B OTTHUMP00000241252;acyl-coenzyme A thioesterase 4;peroxisomal acyl coenzyme A thioester hydrolase Ib;peroxisomal acyl-CoA thioesterase 2B;peroxisomal long-chain acyl-CoA thioesterase Ib protein-coding HGNC:19748 17928 614314 VALIDATED 1315172 ACOT13 acyl-CoA thioesterase 13 This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009] 6 6 6 p22.3 25900605 25938673 + 24667263 24705297 + 24667035 24705069 + 1580863;6480464 10931946;12477932;14574404;14702039;15489334;16344560;16934754;17045243;17704541;18095154;18624398;19170545;19405909;19738201;20877624;21139048;21319273;22262880;22939629;23954868;24250222;24816145;8889548 55856 Q9NPJ3 ABBA01066538;AF155649;AF220186;AF274952;AK000508;AK309738;AL031775;AMYH02013327;BC000894;BG568305;CB852340;CH471087;CS072377;DB214267;NM_001160094;NM_018473 AAF67006;AAF67651;AAH00894;AAK07529;BAA91215;CAI93515;EAW55460;NP_001153566;NP_060943;Q9NPJ3 Hs.731605 1657201;1670349;1735590;1792864;1792870;2133526;2164990 D6S1127E;D6S2130;PMC166143P4;PMC166143P7;RH36217;RH68224;STS-AA033712 HT012;MGC4961;PNAS-27;THEM2 OTTHUMP00000016090;acyl-coenzyme A thioesterase 13;hypothalamus protein HT012;thioesterase superfamily member 2 APPROVED protein-coding ENSG00000112304 HGNC:20999 07158 615652 REVIEWED 1606811 ACOT9 acyl-CoA thioesterase 9 The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X X X p22.11 27842554 27882190 - 23721777 23784592 - 23703660 23766475 - 6480464 10383425;10810093;12477932;14702039;16103133;18781797;20186120;20360068;21139048;21890473;21906983;21963094;22114354;22268729;22323290;22797925;23473034;23956138 23597 C9J7L8;F8WDI2;H7C5Q2;Q9Y305 ABBA01072215;ABBA01072216;ABBA01072217;ABBA01072218;ABBA01072219;ABBA01072220;ABBA01072221;ABBA01072222;AC093011;AC131011;AF132950;AF241787;AK000659;AK024337;AL548456;AMYH02039031;AMYH02039032;BC012573;BC136671;BC144360;BC144370;BX648512;CH471074;NG_016780;NM_001033583;NM_001037171;XM_005274470;XM_005274471;XM_005274472 AAD27725;AAG44475;AAH12573;AAI36672;AAI44361;ADZ15671;BAG51291;EAW98997;EAW98998;NP_001028755;NP_001032248;Q9Y305;XP_005274527;XP_005274528;XP_005274529 Hs.298885 1662408;5016478;5022578 D1S1423;GDB:434012;STS-W05354 ACATE2;CGI-16;MT-ACT48;MTACT48 OTTHUMP00000023065;OTTHUMP00000023068;OTTHUMP00000215275;OTTHUMP00000215276;acyl-CoA thioester hydrolase 9;acyl-Coenzyme A thioesterase 2, mitochondrial;acyl-coenzyme A thioesterase 9, mitochondrial;mitochondrial Acyl-CoA Thioesterase APPROVED protein-coding ENSG00000123130 HGNC:17152 06438 300862 REVIEWED 10069 ACP1 acid phosphatase 1, soluble The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008] 2 2 2 p25 327509 340926 + 264869 278283 + 264869 278283 + 1625289;1358577;1625288;1580863;1300048;2313182;2313184;2313187;2313188;2313186;2313179;2313180;2313183;6480464;6484113;6907045;8554872 11912546;12231445;12409270;12495297;15281007;15586390;17353188;19246900;8620937;9198310 10336608;10608891;10940933;11369750;11436564;11534018;11785295;11963573;11971983;11976341;12100313;12167657;12418966;12438242;12477932;12640337;12815062;12942785;1304913;14637146;15230135;15359537;15489334;1587862;15951569;15974295;15988697;16036221;16169070;16189514;16224193;16253994;1627603;16344560;16762482;16893901;16973312;17171650;17353931;17390764;17472574;17565542;17678914;17703100;18029348;18262048;18490013;18604186;18768081;18786445;18992867;19056867;19217450;1939112;19569002;19570551;19622628;19738201;19789510;19855922;19913121;20152999;20379614;20581655;20587610;20628086;20805743;20816195;21139048;21145461;21319273;21423239;21538645;21644204;21767392;21853274;21890473;22035742;22064183;22428720;22505724;22623428;22692348;22810585;22854047;22939629;22990118;23197232;23278455;23453606;23584899;23621699;23645747;23959645;24250222;24797263;4065897;4356849;457131;736044;8364553;8586411;9038134;9499402;9684876;9705307 52 D3YTI2;F2Z2Q9;F2Z2R9;G5E9R5;P24666;Q59EH3 AB209838;ABBA01035631;AC079779;AK289934;AK291861;AMYH02003161;BC007422;BC020699;BC106011;BI460080;BJ992018;BT007136;BX481618;CH471053;DA378283;DB443811;L06508;M83653;M83654;M87545;NG_012035;NM_001040649;NM_004300;NM_007099;NR_024080;S62884;U25847;U25849;XR_426957;Y16846 AAB27085;AAB59354;AAB59355;AAB59628;AAC52067;AAH07422;AAI06012;AAP35800;AAY14958;ADZ15475;BAD93075;BAF82623;BAF84550;CAA76416;EAX01111;EAX01112;EAX01113;EAX01114;EAX01115;EAX01116;NP_001035739;NP_004291;NP_009030;P24666 Hs.558296 1680855;1688253;1694922;1742473;2177840;2182387;5022285 D2S2844;G44350;GDB:197514;RH1485;RH65054;RH67995;RH69188 HAAP;MGC111030;MGC3499 LMW-PTP;LMW-PTPase;OTTHUMP00000109538;OTTHUMP00000109539;OTTHUMP00000199909;OTTHUMP00000199910;OTTHUMP00000199911;OTTHUMP00000199914;OTTHUMP00000199915;acid phosphatase of erythrocyte;adipocyte acid phosphatase;cytoplasmic phosphotyrosyl protein phosphatase;low molecular weight cytosolic acid phosphatase;low molecular weight phosphotyrosine protein phosphatase;protein tyrosine phosphatase;red cell acid phosphatase 1 1643262;1643271 BW207_H;BW214_H APPROVED protein-coding ENSG00000143727 HGNC:122 08881 171500 REVIEWED 1344840 ACOX1 acyl-CoA oxidase 1, palmitoyl The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 70527638 70565551 - 73937588 73975515 - 75941507 75979434 - 1298651;1580863;6480464;7240710;8554872;8699517 8159712 10856712;10960480;11076863;11230166;11815777;12477932;1464743;14702039;15489334;15489336;16381901;16396496;16756494;17081983;17458872;17603022;17881773;18281296;18536048;18660489;19946888;20178365;20195242;21139048;22002062;22939629;23933200;24418004;24501781;24816145;7668838;7876265;8040306;8117268;8125298;8507686;8798738 51 I3L0T4;I3L2U4;I3L4S5;K7ELT1;K7ENF1;K7ESC7;Q15067 ABBA01028765;ABBA01028766;ABBA01028767;AC040980;AC087289;AK095501;AK225897;AK291793;AK292965;AK296409;AK300447;AK308218;AMYH02034002;AMYH02034003;BC008767;BC010425;BQ943492;BX537380;CH471099;DC297086;HB873087;HB882949;HB894278;HC930496;HC940358;HC951687;NG_008190;NM_001185039;NM_004035;NM_007292;S69189;U03254;U03268;U07866;X71440 AAA18595;AAA19113;AAA19114;AAB30019;AAH08767;AAH10425;BAF84482;BAF85654;BAG59073;BAG62169;CAA50574;CAD97622;CAL38034;CBF60587;CBF65740;CBF73135;CBU85830;CBU90611;CBU96027;EAW89349;EAW89350;EAW89351;EAW89352;NP_001171968;NP_004026;NP_009223;Q15067 Hs.464137 1651313;1668319;1722507;1743495;2106411;2153318;2153969;2169779;2171351;2172301;2172303;5015861;5016478;5016504;5020414;5020948;5021396;5109281;5117518;5117520;5117524;7185938 A005O17;ACOX1_4327;D10S16;D1S1425;G20374;G35510;G60178;GDB:313783;GDB:340951;GDB:434012;GDB:574052;GDB:574056;GDB:574062;GDB:574064;L17688;RH16305;RH16429;RH65536;SHGC-30509;SHGC-34016;SHGC-57116 ACOX;AOX;MGC1198;SCOX PALMCOX;acyl-CoA oxidase, straight-chain;acyl-Coenzyme A oxidase 1, palmitoyl;palmitoyl-CoA oxidase;peroxisomal acyl-coenzyme A oxidase 1;peroxisomal fatty acyl-CoA oxidase;straight-chain acyl-CoA oxidase APPROVED protein-coding ENSG00000161533 HGNC:119 02030 264470;609751 REVIEWED 10073 ACP5 acid phosphatase 5, tartrate resistant This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008] 19 19 19 p13.2 11580213 11584539 - 11685475 11689801 - 11574660 11578986 - 1300346;1580863;1300048;2315882;2315909;2315910;6480464;6907045;8699517;8554872;7240710 19699734;19736603;19821772;734913 10389595;10862785;11983200;12009023;12073156;12450668;12477932;12589973;12820342;12845688;12901871;15342556;15489334;15542543;15701839;15878315;15950921;15993892;16169070;16200454;16280328;16620768;16869970;17088078;17207965;17357281;17997709;18053985;18221403;18285546;18320034;18410226;18421493;18703035;1872798;18979172;19010793;19026169;19765782;20416078;20932965;20967488;21217752;21217755;21300043;21386798;21890473;21900206;22335021;22357739;22490295;22517558;22844067;2334436;2338077;23383108;23604121;23737138;23990468;2473026;2610679;2775236;2808373;2909539;8125298;8188227;8195113;8200916;8359686;8449511;8889548;9521821 54 K7EIP0;K7EJD9;K7ES19;K7ESF2;P13686 ABBA01029833;ABBA01029834;AC020947;AK225912;AK290717;AK307164;AMYH02035531;BC025414;BC111014;BM708166;BP367008;BX365007;CH471106;CR457078;FB775570;J04430;NG_028127;NM_001111034;NM_001111035;NM_001111036;NM_001611;X14618;X67123;XM_005259938;XM_005259939 AAA76849;AAH25414;AAI11015;ACE87273;ADQ32269;BAF83406;CAA32771;CAG33359;CAV30742;EAW84232;EAW84233;EAW84234;NP_001104504;NP_001104505;NP_001104506;NP_001602;P13686;XP_005259995;XP_005259996 Hs.1211 1681412;2125694;2160130;2190485;2218176 ACP5;ACP5__4244;G06617;G10515;RH93921 MGC117378;SPENCDI;TRAP TrATPase;acid phosphatase 5;tartrate-resistant acid ATPase;tartrate-resistant acid phosphatase type 5 APPROVED protein-coding ENSG00000102575 HGNC:124 01374 171640;607944 REVIEWED 10071 ACP2 acid phosphatase 2, lysosomal This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. Mutations in this gene or in the related alpha subunit gene cause acid phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Aug 2008] 11 11 11 p11.2 47400080 47409684 - 47260853 47270457 - 47239302 47248906 - 1300245;1580863;1300048;4892631;6480464;6907045;8699517;8554872;7240710 18690537;9228031 11801736;12477932;15489334;16196087;16344560;17357082;18976975;19056867;19064571;19946888;21987572;22268729;22939629;2776754;3160696;3191910;3904632;5410815;6164873;6193776;6651479;69583;6970673;730175;7576159;8619474;9040486;9110174;975882 53 B7Z6U3;B7Z7D2;E9PHY0;E9PKW9;E9PP23;E9PQW9;E9PQY3;G5EA28;P11117 ABBA01060721;AC018410;AK298122;AK298439;AK299382;AK300569;AK300911;AK300931;AK301860;AK303894;AK308512;AK311431;AMYH02024728;AY007137;BC003160;BC093010;CH471064;DA382854;DC337294;NG_023296;NM_001131064;NM_001610;X12548;X15525;X15535;XM_005252984;XM_005252985;XR_242812 AAH03160;AAH93010;ABM83595;ABM86839;BAH12728;BAH12788;BAH13021;BAH13304;BAH13374;BAH13379;BAH13568;BAH14075;CAA31064;CAA33542;EAW67950;EAW67951;NP_001124536;NP_001601;P11117;XP_005253041;XP_005253042 Hs.532492 1682337;1686110;1712116;1742555;1847258;1847360;2156001 D11S4389;G54107;GDB:197878;RH18246;RH27367;RH27445;RH79156 LAP OTTHUMP00000234497;OTTHUMP00000234498;OTTHUMP00000234499;OTTHUMP00000234584;OTTHUMP00000234586;OTTHUMP00000234587;OTTHUMP00000234588;OTTHUMP00000234663;acid phosphatase 2;lysosomal acid phosphatase APPROVED protein-coding ENSG00000134575 HGNC:123 01375 171650;200950 REVIEWED 736892 ACOX3 acyl-CoA oxidase 3, pristanoyl Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008] 4 4 4 p15.3 8261321 8335759 - 8368009 8442452 - 8366282 8440725 - 1580863;1300048;6480464 12477932;15231748;15489334;15599942;16344560;16756494;19946888;20178365;20677014;20877624;21659360;21906983;22505724;8125298;8387517;8993592;9271077 8310 D6RJ89;O15254 ABBA01008698;ABBA01008699;AC104825;AK225080;AK313242;AMYH02008697;AMYH02008698;AMYH02008699;BC017053;CA306669;CH471131;DA949869;HB873065;HB882927;HB894256;HC930474;HC940336;HC951665;KF457738;NM_001101667;NM_003501;XM_005248011;XM_005248012;XM_005248013;Y11411 AAH17053;BAG36053;CAA72214;CBF60575;CBF65729;CBF73112;CBU85819;CBU90600;CBU96016;EAW82339;EAW82340;EAW82341;EAW82342;NP_001095137;NP_003492;O15254;XP_005248068;XP_005248069;XP_005248070 Hs.479122 1652167;1658111;1766217;1766627;2110169;2142105;2142107;2143225;2161758;5107447 A002B29;D4S1188;D4S1213;G19895;G33926;G65142;SHGC-149580;SHGC-149925;SHGC-32080;st517p6-8d3 BRCACox;OTTHUMP00000115592;OTTHUMP00000217516;OTTHUMP00000219320;acyl-Coenzyme A oxidase 3, pristanoyl;branched-chain acyl-CoA oxidase;peroxisomal acyl-coenzyme A oxidase 3;pristanoyl-CoA oxidase APPROVED protein-coding ENSG00000087008 HGNC:121 04552 603402 VALIDATED 735528 ACOX2 acyl-CoA oxidase 2, branched chain The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe mental retardation, and death in children. [provided by RefSeq, Mar 2009] 3 3 3 p14.3 58504526 58536479 - 58490863 58522929 - 58505136 58537202 - 1580863;1300345;1300244;6480464;6907045;8554872 704421;734910 12477932;15489334;16756494;20178365;20379614;2079609;21343950;8387517;8943006;8993592;9070889 8309 C9J0G0;C9JY29;H7C4Q2;H7C4Y2;H7C573;Q99424 ABBA01024380;ABBA01024381;AC116036;AJ001541;AK298402;AK313512;AMYH02006890;AMYH02006891;BC033517;BC047700;BG698950;BI490007;CH471055;HB873093;HB882955;HB894284;HC930502;HC940364;HC951693;NM_003500;X95190;XM_005265505;XM_005265506;XM_006713340 AAH47700;BAG36292;BAG60633;CAA64489;CAB65596;CBF60593;CBF65743;CBF73142;CBU85833;CBU90614;CBU96030;EAW65375;EAW65376;EAW65377;NP_003491;Q99424;XP_005265562;XP_005265563;XP_006713403 Hs.444959 1663132;5017130 RH71302;SHGC-33100 BCOX;BRCOX;THCCox 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase;3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase;BRCACOX;OTTHUMP00000214196;OTTHUMP00000214197;THCA-CoA oxidase;acyl-Coenzyme A oxidase 2, branched chain;peroxisomal acyl-coenzyme A oxidase 2;peroxisomal branched chain acyl-CoA oxidase;trihydroxycoprostanoyl-CoA oxidase APPROVED protein-coding ENSG00000168306 HGNC:120 09037 601641 REVIEWED 1314899 ACP6 acid phosphatase 6, lysophosphatidic ENCODES a protein that exhibits lysophosphatidic acid phosphatase activity; INVOLVED IN dephosphorylation; lysobisphosphatidic acid metabolic process; phospholipid metabolic process; PARTICIPATES IN riboflavin metabolic pathway; FOUND IN cytoplasm; mitochondrion; INTERACTS WITH copper(2+) sulfate; isotretinoin; valproic acid 1 1 1 q21 121841363 121864830 + 147119168 147142634 - 147647366 147670512 - 1580863;6480464;6907045 10506173;12010880;12477932;12975309;14702039;15280042;15340161;15489334;16169070;16710414;17207965;17353931;20877624;23807634;24722188;9820827 51205 Q9NPH0;V9GZ71;X5D289;X5D319 AB030039;AB031478;AB209248;ABBA01004401;ABBA01004402;AC241644;AK000657;AK308593;AK310693;AL359207;AL520992;AY358552;BC009965;BC011644;BC034686;CH471223;CR457101;KJ534759;KJ535036;KJ535044;KJ535055;NM_016361;XM_005277400;XM_006711363;XM_006711364 AAH09965;AAH34686;AAQ88916;ADQ32397;AHW56399;AHW56675;AHW56683;AHW56694;BAA89311;BAA91310;BAA94309;BAD92485;CAG33382;CAI15199;EAW50931;NP_057445;Q9NPH0;XP_005277457;XP_006711426;XP_006711427 Hs.562154 1677254;1722567;2125503 G60214;RH45458;RH93817 ACPL1;LPAP;PACPL1 OTTHUMP00000015904;acid phosphatase like 1;acid phosphatase-like protein 1;lysophosphatidic acid phosphatase 6;lysophosphatidic acid phosphatase type 6 protein-coding HGNC:29609 16472 611471 VALIDATED 1315641 ACOXL acyl-CoA oxidase-like ENCODES a protein that exhibits acyl-CoA dehydrogenase activity (inferred); acyl-CoA oxidase activity (inferred); oxidoreductase activity, acting on the CH-CH group of donors (inferred); INVOLVED IN fatty acid beta-oxidation (inferred); oxidation-reduction process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN peroxisome (inferred); INTERACTS WITH benzo[a]pyrene; methyl methanesulfonate; (R)-lipoic acid (ortholog) 2 2 2 q13 105140860 105526394 + 111490150 111875799 + 110732573 111118222 + 1580863;6480464;8554872 12477932;14702039;15146197;18758461;19773279;20332261;20731705;21145461;21738478;22197929;22219177;22566634;22700719;23222517;23770605;24292274;24390342 55289 B4DU63;C9JQI3;H7C0A6;H7C2M3;H7C345;Q9NUZ1 ABBA01001561;AC023131;AC096591;AC096670;AC114776;AK001904;AK300513;AMYH02004567;AMYH02004568;AMYH02004569;AMYH02004570;BC022268;BC131514;BX282060;CH471237;CN426904;CX788840;NM_001142807 AAH22268;AAI31515;AAY14796;AAY14838;AAY24074;BAA91970;BAG62225;EAW50357;EAW50358;EAW50359;EAW50360;NP_001136279;Q9NUZ1 Hs.253320 1700714;1727939;1757129;1762373;1784000;1784230;2135404;5494153 G63388;RH103981;SHGC-14171;SHGC-142669;SHGC-144565;SHGC-146201;SHGC-156035;fb58h05 FLJ11042 OTTHUMP00000161929;OTTHUMP00000204261;OTTHUMP00000225186;acyl-CoA oxidase-like protein;acyl-coenzyme A oxidase-like protein APPROVED protein-coding ENSG00000153093 HGNC:25621 12418 VALIDATED 736688 ACR acrosin Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 35052700 35059775 + 51176652 51183727 + 50738224 50745299 + 1580863;6480464 10369396;10418103;10734459;11076863;11739644;11839395;12398221;12477932;12801583;12931362;15461802;15782160;15950651;15950652;15955892;1628652;16344560;1783391;1907596;1937464;2114285;22452365;2298447;22990118;23297503;23675907;2493394;2550339;2606479;3880736;6357995;6802470;6815104;7521127 49 E9PLV5;P10323 ABBA01042613;AC000036;AC002056;AK310316;AMYH02038627;AMYH02038628;CH471138;CR456366;DB054152;M77378;M77379;M77380;M77381;NM_001097;X54017;X66188;Y00970 AAA51572;AAA51573;AAA51574;AAA51575;AAI11594;CAA37964;CAA46956;CAA68784;CAG30252;CAK54364;CAK54663;EAW73587;EAW73588;NP_001088;P10323 Hs.370870 1690528;1742079;2171428 GDB:190905;RH38881;RH69180 OTTHUMP00000196479;acrosin light and heavy chain prepropeptide;preproacrosin;proacrosin APPROVED protein-coding ENSG00000100312 HGNC:126 06342 102480 REVIEWED 1317948 ACPT acid phosphatase, testicular Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 48344629 48349438 + 51293672 51298481 + 50790415 50795224 + 6480464;6907045;8554872 11414767;15219672 93650 Q9BZG2 ABBA01068298;AC010325;AF321918;AMYH02036363;CH471135;NM_033068 AAI40295;AAI46507;AAK09393;AAK09394;AAK09395;AAK09396;EAW71900;EAW71901;EAW71902;EAW71903;EAW71904;NP_149059;Q9BZG2 Hs.293394 testicular acid phosphatase APPROVED protein-coding ENSG00000142513 HGNC:14376 06964 606362 REVIEWED 736505 ACPP acid phosphatase, prostate This gene encodes an enzyme that catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and is secreted by the epithelial cells of the prostate gland. An alternatively spliced transcript variant encoding a longer isoform has been found for this gene. This isoform contains a transmembrane domain and is localized in the plasma membrane-endosomal-lysosomal pathway. [provided by RefSeq, Sep 2008] 3 3 3 q22.1 130462489 130513425 + 132036211 132087146 + 132317367 132368302 + 1300346;1300246;1580863;1300048;2301055;2301054;2301052;6480464;6907045 15240830;16024648;17991541;704423;734913 10452601;10477906;10506719;10639192;10851066;11067847;11377343;11547122;11739538;11784334;11833784;11983210;12032838;12362977;12477932;12525165;12719131;12962324;1375464;14623260;14690244;15280042;15578709;15862967;15985366;16004602;16076555;16196087;1696855;1699876;17455230;17638863;17658863;17897319;18083097;18940592;19056867;19108401;19301031;19403677;19636017;19759923;1989985;19902966;20379614;20392611;20498373;20645695;21487525;22082367;22090109;22354963;23314347;23897810;2395659;2411954;24338683;24854630;2712834;2842184;2965059;480493;76687;7923807;7951074;8037752;8110833;8132635;8244395;8407898;9187691;9584847;9705354;9708626;9804805 55 E9PFE6;H0Y8T3;P15309 AA578274;AB102888;ABBA01059186;ABBA01059187;AC020633;AK300540;AMYH02007687;AW136372;BC007460;BC008493;BC016344;BC017877;BQ100881;CH471052;DC383453;M24902;M34840;M97589;NM_001099;NM_001134194;NM_001292037;U07086;U07097;X52174;X53605;X71391;X74961 AAA60021;AAA60022;AAA69694;AAB60640;AAH07460;AAH08493;AAH16344;AAH17877;ABM84074;ABM87442;BAD89417;BAG62248;CAA36422;CAA37673;CAA50514;CAA52913;EAW79201;EAW79202;EAW79203;EAW79204;EAW79205;NP_001090;NP_001127666;NP_001278966;P15309 Hs.433060 1336743;1695276;1741345;1741521;1744475;2151056;2172319 D3S1596;G10726;GDB:180742;GDB:181274;GDB:455656;SHGC-62995;STS-M24902 5'-NT;ACP-3;ACP3;PAP 5'-nucleotidase;OTTHUMP00000216106;OTTHUMP00000216107;OTTHUMP00000216108;TMPase;ecto-5'-nucleotidase;prostatic acid phosphatase;prostatic acid phosphotase;thiamine monophosphatase APPROVED protein-coding ENSG00000014257 HGNC:125 01378 171790 REVIEWED 1344974 ACRBP acrosin binding protein The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 8364217 8373557 - 6747241 6756594 - 6638076 6647414 - 1580863;6480464 11248070;12477932;15489334;16301813;20876808;22651134;23077236;24294369 84519 E7EP66;F5H2C2;F5H3P4;F5H5S8;Q8NEB7 AB051833;ABBA01017650;AC135892;AF085884;AK302290;AK311572;AK312782;AMYH02025953;BC033010;CH471116;NM_032489 AAH33010;ABM81798;ABM84954;BAB39388;BAG35645;BAG63630;EAW88774;NP_115878;Q8NEB7 Hs.123239 1650712;1793912;1847235 G41278;PMC30645P1;SHGC-30262 CT23;FLJ51160;OY-TES-1;SP32 OTTHUMP00000239242;OTTHUMP00000239243;acrosin-binding protein;cancer/testis antigen 23;cancer/testis antigen OY-TES-1;proacrosin binding protein sp32 APPROVED protein-coding ENSG00000111644 HGNC:17195 16322 608352 REVIEWED 1346265 ACRC acidic repeat containing FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene X X X q13.1 71150915 71185673 + 70797840 70833440 + 71577990 71613590 + 1580863;6480464 11714101;12477932;14702039;16344560 93953 Q96QF7 ABBA01067759;ABBA01067760;ABBA01067761;ABBA01067762;ABBA01067763;ABBA01067764;ABBA01067765;ABBA01067766;ABBA01067767;AJ311392;AK097433;AK127607;AL590763;AMYH02039677;BC136259;CH471132;DB073623;NM_052957;XM_005262312;XM_005262313;XM_006724716 AAI36260;BAC05051;BAG54533;CAC60255;EAX05284;NP_443189;Q96QF7;XP_005262369;XP_005262370;XP_006724779 Hs.135167 2218970;5022578;5022651 ACRC__4245;D11S2921;D1S1423 NAAR1 OTTHUMP00000032171;OTTHUMP00000032172;acidic repeat-containing protein;putative nuclear protein protein-coding ENSG00000147174 HGNC:15805 02298 300369 VALIDATED 1351105 ACRV1 acrosomal vesicle protein 1 This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010] 11 11 11 q24.2 122702479 122711196 - 125542229 125550809 - 125672334 125680914 - 1580863;6480464 11730901;12477932;15489334;1637938;1693291;21488928;2298314;7619499;7888499;8125298;8288254;8373955 56 AAB34927;AAB34928;AAB34929;AAB34930;AAB34931;AAB34933;AAB34935;AAB34936;P26436 AB451476;ABBA01031239;AK223335;AMYH02025737;AP001132;BC014588;BG720361;BI826178;CH471065;DB446200;H93373;HC006756;M82967;M82968;NM_001612;NM_020069;NM_020107;NM_020108;S65576;S65578;S65583;S65606;XM_005271610 AAA36625;AAA36626;AAB28238;AAB34927;AAB34928;AAB34929;AAB34930;AAB34931;AAB34933;AAB34935;AAB34936;AAH14588;BAD97055;BAG70290;CBH19184;EAW67648;EAW67649;EAW67650;EAW67651;EAW67652;EAW67653;EAW67654;EAW67655;EAW67656;EAW67657;EAW67658;EAW67659;NP_001603;NP_064454;NP_064492;NP_064493;P26436;XP_005271667 Hs.169222;Hs.596575 1662302;2107811;2140209;2141028;2154146 ACRV1;ACRV1_8189;RH17743;STS-H93373;WI-7841 D11S4365;SP-10;SPACA2 OTTHUMP00000231310;OTTHUMP00000231311;OTTHUMP00000231312;OTTHUMP00000231313;acrosomal protein SP-10;sperm protein 10 APPROVED protein-coding ENSG00000134940 HGNC:127 00014 102525 REVIEWED 733957 ACSBG1 acyl-CoA synthetase bubblegum family member 1 The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008] 15 15 15 q23-q24 55399717 55463412 - 78463187 78527049 - 78170845 78234707 - 6480464;8554872 10954726;11112418;12477932;12975357;14516277;14702039;15464426;15800013;16371355;19240061;20379614;20691247;21832049;21900206;8619474;9110174;9734811 23205 B3KNS7;B7Z2Y6;F5H4U6;H0YM34;H0YMC3;H0YMF5;H0YMH2;H0YMZ0;H0YNX0;Q96GR2 ABBA01060579;ABBA01060580;AC090260;AC090607;AF070624;AF179481;AK054882;AK294202;AK295269;AK299597;AK314508;AMYH02030859;AMYH02030860;BC009289;BC040252;CH471136;DC401742;HB881625;HC939034;NM_001199377;NM_015162 AAG09404;AAH09289;ABM87427;ABW03887;BAG37108;BAG51439;BAH11696;BAH12022;BAH13077;CBF65091;CBU89962;EAW99180;NP_001186306;NP_055977;Q96GR2 Hs.655760 1697488;1708542;2167084;2187458 RH102246;SHGC-58142;SHGC-85050;SHGC-9319 BG;BG1;BGM;FLJ30320;GR-LACS;KIAA0631;LPD;MGC14352;hBG1;hsBG;hsBGM OTTHUMP00000184909;bubblegum;lipidosin;lipodisin;long-chain-fatty-acid--CoA ligase ACSBG1;ortholog of rodent gonadotropin-regulated long chain acyl-CoA synthetase;very long-chain acyl-CoA synthetase APPROVED protein-coding HGNC:29567 16549 614362 REVIEWED 1342971 ACSL1 acyl-CoA synthetase long-chain family member 1 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 q35.1 183005275 183075742 - 185676749 185747215 - 184755595 184826114 - 70279;1625737;1625735;1625742;2317576;6480464 1543733;15811777;16788709;17762044;2341402 10548543;12477932;14702039;15292367;1531127;15489334;1599407;16054041;1607358;16834775;17255364;18660489;19946888;2007410;20176858;20877624;21139048;21890473;21906983;21963094;21988832;22797925;22829935;22990118;23000965;23303383;23433401;23503661;24462768;24503477;25027693;2973813;7429333;7490105;7948012;8399326;8584017;8889548;8944226 2180 A8K9T3;B4E0R0;B7Z3Z9;D6RER0;D6RG07;E7EPM6;H0Y9U7;H0Y9Z9;P33121 ABBA01070518;ABBA01070519;ABBA01070520;AC079257;AC084871;AK096117;AK292798;AK296550;AK296826;AK303486;AMYH02010653;AMYH02010654;AMYH02010655;BC026290;BC033479;BC050073;BG680610;BG773086;BI461964;BM982557;CH471056;D10040;DC344113;DQ083028;DQ083029;HB881341;HC938750;L09229;NM_001286708;NM_001286710;NM_001286711;NM_001286712;NM_001995;XM_005262827;XM_005262828;XM_005262829;XM_005262831;XM_006714138 AAB00959;AAH26290;AAH50073;AAZ30711;AAZ30712;BAA00931;BAC04704;BAF85487;BAG64522;BAH12385;BAH12438;CBF64949;CBU89820;EAX04662;EAX04663;EAX04664;EAX04665;NP_001273637;NP_001273639;NP_001273640;NP_001273641;NP_001986;P33121;XP_005262884;XP_005262885;XP_005262886;XP_005262888;XP_006714201 Hs.406678 1656031;1772332;2116233;2161988;2216978;5015861;7185938 ACSL1_3367;Bdy94e02;D10S16;D4S3128;SHGC-50256;WI-20005 ACS1;FACL1;FACL2;LACS;LACS 1;LACS 2;LACS1;LACS2 OTTHUMP00000218456;OTTHUMP00000218457;OTTHUMP00000218460;OTTHUMP00000218461;OTTHUMP00000218462;OTTHUMP00000218465;acyl-CoA synthetase 1;fatty-acid-Coenzyme A ligase, long-chain 1;fatty-acid-Coenzyme A ligase, long-chain 2;lignoceroyl-CoA synthase;long-chain acyl-CoA synthetase 1;long-chain acyl-CoA synthetase 2;long-chain fatty acid-CoA ligase 2;long-chain fatty-acid-coenzyme A ligase 1;long-chain-fatty-acid--CoA ligase 1;palmitoyl-CoA ligase 1;palmitoyl-CoA ligase 2;paltimoyl-CoA ligase 1 APPROVED protein-coding ENSG00000151726 HGNC:3569 01068 152425 REVIEWED 1344693 ACSL4 acyl-CoA synthetase long-chain family member 4 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the mental retardation or Alport syndrome. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] X X X q22.3-q23 109364202 109456256 - 108884564 108976621 - 109641335 109733392 - 1580863;2317576;6480464;7240710;8554872 17762044 10669417;10874125;11731423;11889465;12477932;12525535;12824887;12949969;14741744;15108178;15146197;15161933;15292367;15489334;1567471;15849811;16276108;17934335;18029348;18059177;18614287;18781797;19056867;19322201;19346733;19617635;19765186;19946888;20351714;20452052;21085606;21139048;21242590;21384559;21832049;21890473;21903867;21906983;21963094;21988832;22053931;22114354;22505724;22797925;22808264;22939629;23000965;23443559;23503661;23874603;24155918;24163370;24201376;24576478;24816145;24879802;25015289;25027693;8944226;9480748;9598324;9598718 2182 D6RD96;D6RDA8;D6RF95;D6RFW9;H0Y9A0;O60488 AB061711;AB061713;AB061714;ABBA01043470;ABBA01043471;ABBA01043472;ABBA01043473;ABBA01043474;ABBA01043475;ABBA01043476;ABBA01043477;ABBA01043478;ABBA01043479;ABBA01043480;ABBA01043481;AF030555;AK292070;AK294915;AK307566;AL118496;AL138968;AL590647;AMYH02040225;BC034959;BQ016115;CH471120;CN310691;DR004263;NG_008053;NM_004458;NM_022977;XM_005262108;XM_005262109;XM_005262110;XM_006724635;Y12777;Y13058 AAC17493;AAH34959;ABM81761;ABM84916;BAB86900;BAB86901;BAB88649;BAF84759;BAG58000;CAA73314;CAA73501;EAX02671;EAX02672;EAX02673;EAX02674;NP_004449;NP_075266;O60488;XP_005262165;XP_005262166;XP_005262167;XP_006724698 Hs.268785 1658096;1662078;1684918;1685592;1850672;2132133;5095076 ACSL4;AFM214ZE1;DXS6987E;DXS7039E;RH11026;RH80172;STS-N30273 ACS4;FACL4;LACS 4;LACS4;MRX63;MRX68 OTTHUMP00000023846;OTTHUMP00000216982;acyl-CoA synthetase 4;fatty-acid-Coenzyme A ligase, long-chain 4;lignoceroyl-CoA synthase;long-chain acyl-CoA synthetase 4;long-chain fatty-acid-Coenzyme A ligase 4;long-chain-fatty-acid--CoA ligase 4 APPROVED protein-coding ENSG00000068366 HGNC:3571 02152 300157;300387 REVIEWED 1604214 ACSF3 acyl-CoA synthetase family member 3 This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013] 16 16 16 q24.3 74226564 74287794 + 89160217 89222171 + 89093809 89155846 + 6480464;8699517;7240710;8554872 12477932;14702039;16303743;16344560;17762044;18029348;20877624;21139048;21785126;21841779;21846720;21857022;22420028;23337955;23864651;24035498;24654937;24816145 197322 F5GX20;F5H2G6;F5H362;F5H3B2;F5H5A1;F5H755;H0YGC7;H0YGJ0;H0YH37;H3BTS0;Q4G176 ABBA01014163;ABBA01014164;AC009113;AC135782;AK075499;AK096561;AK290963;AMYH02032657;AMYH02032658;BC028399;BC064609;BC072391;BI837487;BM148793;BQ953430;BX325026;BX402632;BX404035;CH471184;CR976321;CS051329;DA062861;HI573908;HY100877;NG_031961;NM_001127214;NM_001243279;NM_001284316;NM_174917;NR_045667;NR_104293;XM_005256293;XM_006721166 AAH28399;AAH64609;AAH72391;BAC11654;BAF83652;CAI72159;CBX47443;EAW66744;NP_001120686;NP_001230208;NP_001271245;NP_777577;Q4G176;XP_005256350;XP_006721229 Hs.461727;Hs.720526 1683251;1684690 RH65209;RH79754 FLJ39242 OTTHUMP00000175346;OTTHUMP00000236558;OTTHUMP00000236559;OTTHUMP00000236605;acyl-CoA synthetase family member 3, mitochondrial;malonyl-CoA synthetase APPROVED protein-coding ENSG00000176715 HGNC:27288 14117 614245;614265 REVIEWED 1604594 ACSF2 acyl-CoA synthetase family member 2 ENCODES a protein that exhibits ATP binding (inferred); catalytic activity (inferred); ligase activity (inferred); INVOLVED IN fatty acid metabolic process (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; copper(2+) sulfate 17 17 17 q21.33 44964815 45013493 + 48503519 48552200 + 50426158 50474845 + 6480464;8554872 12477932;12975309;16380219;17762044;20877624;21139048;8125298;8889548 80221 B4DTB9;D6RF15;D6RF87;E7EN53;E9PF16;H0Y8N1;H0Y8Y5;Q96CM8 ABBA01041240;AC004707;AC021491;AK024573;AK225044;AK225561;AK294205;AK295258;AK300145;AK300625;AK308584;AK311109;AMYH02033591;AMYH02033592;AMYH02033593;AY358660;BC012053;BC014123;CA945050;CH471109;DC296100;DC384989;NM_001288968;NM_001288969;NM_001288970;NM_001288971;NM_001288972;NM_025149;NR_110232;XM_006722110;XR_429924 AAH12053;AAH14123;AAQ89023;BAB14930;BAG57517;BAG58247;BAG61931;BAG62317;EAW94612;NP_001275897;NP_001275898;NP_001275899;NP_001275900;NP_001275901;NP_079425;Q96CM8;XP_006722173 Hs.288959 1340247;1677108;1693504;2139210;2146995;2218376 CHAD_4562;D17S1869;G13356;RH18250;RH93333;SHGC-58381 ACSMW;AVYV493;FLJ20920 OTTHUMP00000221346;OTTHUMP00000221347;OTTHUMP00000221348;OTTHUMP00000221349;OTTHUMP00000221350;PPARG binding, long chain fatty acid acyl Co-A ligase like;acyl-CoA synthetase family member 2, mitochondrial protein-coding ENSG00000167107 HGNC:26101 13380 610465 VALIDATED 1604279 ACSBG2 acyl-CoA synthetase bubblegum family member 2 ENCODES a protein that exhibits acyl-CoA hydrolase activity; long-chain fatty acid-CoA ligase activity; INVOLVED IN fatty acid metabolic process; long-chain fatty acid metabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; mitochondrion; INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ortholog); 17alpha-ethynylestradiol (ortholog) 19 19 19 p13.3 6074482 6131888 + 6135654 6193113 + 6135633 6193103 + 6480464;8554872 11230166;12477932;12975309;14702039;15685348;16371355;16762313;18029348;21145461;8125298 81616 B4DYU1;K7EKE4;K7EL11;K7EMB4;K7ERT0;K7ESC8;K7ESF1;Q5FVE4 ABBA01055978;ABBA01055979;ABBA01055980;ABBA01055981;AC011471;AC104538;AJ577571;AK057412;AK093433;AK225862;AK302604;AL040604;AL136854;AMYH02035346;AMYH02035347;AMYH02035348;AY009107;AY358766;BC022027;BC090046;BI561348;CH471139;DB514968;DC399703;HC006758;HY011431;KF456482;KF456484;NM_001289177;NM_001289178;NM_001289179;NM_001289180;NM_030924;XM_005259653;XM_006722915 AAG49398;AAH22027;AAH90046;AAQ89126;ABM81759;ABM84914;ACE86522;ACE87201;BAB71476;BAG52714;BAG63853;CAB66788;CAE12156;CAE12157;CBH19185;EAW69111;NP_001276106;NP_001276107;NP_001276108;NP_001276109;NP_112186;Q5FVE4;XP_005259710;XP_006722978 Hs.465720 1336112;1660818;1677690 D19S427;G09501;RH93117 BGR;BRGL;DKFZp434K1635;MGC111089;PRTD-NY3;PRTDNY3 BGR-like;bubblegum-related protein;long-chain-fatty-acid--CoA ligase ACSBG2 protein-coding ENSG00000130377 HGNC:24174 09824 614363 VALIDATED 1315639 ACSM1 acyl-CoA synthetase medium-chain family member 1 ENCODES a protein that exhibits acyl-CoA ligase activity; butyrate-CoA ligase activity; INVOLVED IN fatty acid biosynthetic process (inferred); metabolic process (inferred); small molecule metabolic process (inferred); PARTICIPATES IN butanoate metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN blood microparticle; extracellular vesicular exosome; mitochondrial matrix; INTERACTS WITH 1,2-dibromoethane (ortholog); 1-benzofuran (ortholog); 17alpha-ethynylestradiol (ortholog) 16 16 16 p12.3 19944784 20012792 - 20634555 20709066 - 20623233 20697744 - 1580863;6480464;6907045;8554872 11470804;12477932;12654705;14702039;15361761;18347602;18632593;19056867;19913121;20185149;20628086;20679960;20877624 116285 E5RFK0;H0YAU5;O75203;Q08AH1 AB059429;AB062503;ABBA01028285;AC003034;AC020926;AC141273;AK092574;AK314282;AMYH02031665;AMYH02031666;BC125177;BC125178;CH471228;NM_052956;XM_005255084;XM_005255086;XM_006721016;XM_006721017;XM_006721018;XR_243258;XR_429672 AAC23498;AAI25178;AAI25179;BAB64535;BAB68363;BAG36941;EAW66826;EAW66827;EAW66828;NP_443188;Q08AH1;XP_005255141;XP_005255143;XP_006721079;XP_006721080;XP_006721081 Hs.306812 1685383;1733702 D16S773;RH65225 BUCS1;MACS1;MGC150532 Butyrate CoA ligase;OTTHUMP00000162288;OTTHUMP00000226506;acyl-coenzyme A synthetase ACSM1, mitochondrial;butyrate--CoA ligase 1;butyryl Coenzyme A synthetase 1;butyryl-coenzyme A synthetase 1;lipoate-activating enzyme;medium-chain acyl-CoA synthetase;middle-chain acyl-CoA synthetase 1 protein-coding ENSG00000166743 HGNC:18049 12551 614357 VALIDATED 1602231 ACSL3 acyl-CoA synthetase long-chain family member 3 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q34-q35 217493969 217573566 + 223725732 223808119 + 222861014 222943401 + 2317576;6480464;8554872 17762044 11707336;12477932;1433226;14702039;14741744;15292367;15302935;15489334;15556626;16354793;17220478;17379924;17761945;17901542;18003621;1848073;19221603;19765186;19946888;20219900;20308079;20605918;21139048;21252943;21328461;21832049;21890473;21903422;21906983;21963094;21987572;22190034;22357706;22505724;22586326;22797925;22939629;23000965;23125841;23602568;23762027;23840832;24255178;24816145;25027693;6240978;7987323;8663269;8889548;8944226;9177793 2181 B3KMA6;C9JC11;F5GWH2;F5H062;H7BYZ7;H7C260;O95573 AB061436;AB061712;ABBA01023805;ABBA01023806;ABBA01023807;ABBA01023808;AC013476;AC016712;AF116690;AI378485;AK001471;AK023191;AK314621;AMYH02005868;AMYH02005869;AMYH02005870;AMYH02005871;BC012066;BC032144;BC041692;BF679686;BG772246;BM971377;BQ435549;BX472576;CH471063;D89053;HB881571;HC938980;N44998;NM_004457;NM_203372 AAF71110;AAH32144;AAH41692;BAA37142;BAB72074;BAB72139;BAG37187;BAG50918;BAG51167;CBF65064;CBU89935;EAW70807;EAW70808;EAW70809;NP_004448;NP_976251;O95573 Hs.655772 1341355;1688010;1689907;1772934;2109025;2118795;2136366;2136399;2144639;2144811;2162935;7186162 A008B44;ACSL3_3368;D2S130;RH35858;RH65698;RH69969;RH80004;RH92846;SHGC-36164;STS-N59230;WI-21901 ACS3;FACL3;LACS 3;PRO2194 OTTHUMP00000164212;OTTHUMP00000203810;fatty-acid-Coenzyme A ligase, long-chain 3;lignoceroyl-CoA synthase;long-chain acyl-CoA synthetase 3;long-chain-fatty-acid--CoA ligase 3 APPROVED protein-coding HGNC:3570 03845 602371 REVIEWED 1642901 ACSM4 acyl-CoA synthetase medium-chain family member 4 ENCODES a protein that exhibits ATP binding (inferred); butyrate-CoA ligase activity (inferred); fatty-acyl-CoA synthase activity (inferred); INVOLVED IN acyl-CoA metabolic process (inferred); fatty acid metabolic process (inferred); PARTICIPATES IN butanoate metabolic pathway; fatty acid beta degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (+)-catechin; 1,2-dibromoethane (ortholog); 1-benzofuran (ortholog) 12 12 12 p13.31 9032423 9056412 + 7456928 7480969 + 7304332 7328373 + 2317576;6907045;6480464;8554872 17762044 20877624;23982661 341392 P0C7M7 ABBA01012199;AC131205;AMYH02025964;NM_001080454 NP_001073923;P0C7M7 Hs.450804 OTTHUMP00000207043;acyl-coenzyme A synthetase ACSM4, mitochondrial protein-coding ENSG00000215009 HGNC:32016 614360 PROVISIONAL 1604361 ACSL5 acyl-CoA synthetase long-chain family member 5 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q25.1-q25.2 107861444 107915662 + 114133916 114188138 + 112374158 112428380 + 2317576;6480464;8554872 17762044 11127823;11319232;11707336;12147264;12477932;12975309;14608540;15164054;15292367;15489334;15736044;15809837;16198472;16385451;17495181;17681178;17761945;18228202;18806831;19218499;19946888;20379614;20470896;20877624;21890473;21906983;22163040;22171129;23348389;24222123;8125298;8944226 51703 B4DX30;Q9ULC5 AB033899;AB033920;ABBA01063005;AJ347687;AJ496489;AK000339;AK024932;AK222782;AK223288;AK301786;AK310436;AL157786;AL708480;AM262166;AMYH02023816;AMYH02023817;AMYH02023818;AMYH02023819;AMYH02023820;AY358520;BC007985;CD689921;CF595490;CH471066;CS248458;NM_016234;NM_203379;NM_203380 AAH07985;AAQ88884;ABM84192;ABM87595;BAA85979;BAA86054;BAG63242;CAC79123;CAD43000;CAJ56749;CAK18174;EAW49532;EAW49533;EAW49534;EAW49535;EAW49536;EAW49537;EAW49538;EAW49539;NP_057318;NP_976313;NP_976314;Q9ULC5 Hs.11638 1846901;1846903;1858163;2154742;2173193;2216980 A006J06;ACSL5_3592;D10S1429;G20863;RH47726;WI-12237 ACS2;ACS5;FACL5;LACS 5 FACL5 for fatty acid coenzyme A ligase 5;OTTHUMP00000020489;OTTHUMP00000020490;fatty acid coenzyme A ligase 5;fatty-acid-Coenzyme A ligase, long-chain 5;long-chain acyl-CoA synthetase 5;long-chain fatty acid coenzyme A ligase 5;long-chain-fatty-acid--CoA ligase 5 APPROVED protein-coding ENSG00000197142 HGNC:16526 16139 605677 REVIEWED 1606171 ACSM2A acyl-CoA synthetase medium-chain family member 2A ENCODES a protein that exhibits butyrate-CoA ligase activity; INVOLVED IN medium-chain fatty-acyl-CoA metabolic process; PARTICIPATES IN butanoate metabolic pathway; fatty acid beta degradation pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 16 16 16 p12.3 19790180 19797288 - 20462846 20498991 + 20451537 20487669 + 2317576;6480464;6907045;8554872 17762044 10493829;12477932;14702039;16344560;16521160;19345228;19634011;20877624 123876 B3KP75;E7EPS5;F5GWL3;I3L2Y5;I3L339;I3L438;Q08AH3 ABBA01028283;AC003034;AC137056;AI340924;AK055867;AK091878;AK091978;AK096039;AK096132;AK298359;AK298434;AK303774;AMYH02031662;AMYH02031663;BC125175;BC125176;DA034571;DC362857;NM_001010845;XM_005255093;XR_243259 AAC23497;AAI25177;BAC03784;BAG51587;BAG53201;BAG60655;BAH12766;BAH14046;NP_001010845;Q08AH3;XP_005255150 Hs.298252;Hs.656497 1653796;1686736;1761895;2144150;5109281 D1S1425;RH70323;RH93768;SHGC-145832;SHGC-61386 A-923A4.1;ACSM2;FLJ34659;MGC150530 Homolog of rat kidney-specific (KS);acyl-CoA synthetase medium-chain family member 2;acyl-coenzyme A synthetase ACSM2A, mitochondrial;butyrate--CoA ligase 2A;butyryl-coenzyme A synthetase 2A;middle-chain acyl-CoA synthetase 2A protein-coding ENSG00000183747 HGNC:32017 17292 614358 VALIDATED 9586501 ACSM5P1 acyl-CoA synthetase medium-chain family member 5 pseudogene 1 16 16 20599286 20618429 - 20587964 20607107 - 100421779 ABBA01028285;AC141273;AMYH02031665;NG_026352 pseudo HGNC:51295 INFERRED 1349836 ACSL6 acyl-CoA synthetase long-chain family member 6 The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011] 5 5 5 q31.1 127419235 127477416 - 131285666 131347761 - 131949973 132012068 - 1599805;1599808;1580863;2315920;2317576;6480464;8554872 10502316;14622223;16428347;17762044 10048485;10548543;12477932;12767919;14702039;15292367;16344560;16572202;16806233;16827919;16834775;17030554;17567994;18555221;18718982;18804346;19064571;19460752;20379614;20429931;22205969;22412388;23128233;8944226 23305 B2RB13;B4DFW3;C9J3Z0;C9J4I1;C9J8C7;C9JK59;C9JPA5;C9JT10;E7ERD7;Q9UKU0 AB020644;ABBA01068815;AC034228;AF099740;AF102845;AF129166;AK122702;AK294291;AK314452;AL390168;AMYH02012208;AMYH02012209;AW952652;BC026161;BC047453;BI464352;BI545119;BI548729;BM992189;CH471062;DA200154;DA801862;DB461818;DQ083030;DQ083031;DQ655980;NG_028290;NM_001009185;NM_001205247;NM_001205248;NM_001205250;NM_001205251;NM_015256;XM_006714579;XM_006714580;XM_006714581 AAD47199;AAH26161;AAH47453;AAZ30713;AAZ30714;ADZ15639;BAA74860;BAG37060;BAG53676;BAG57574;EAW62355;EAW62356;EAW62357;EAW62358;EAW62359;EAW62360;NP_001009185;NP_001192176;NP_001192177;NP_001192179;NP_001192180;NP_056071;Q9UKU0;XP_006714642;XP_006714643;XP_006714644 Hs.14945 1643716;1761251;1770345;1798534;1799304;1800138;1800396;1800840;1801232;1801812;1801856;1801958;1802228;1803308;1803812;1804116;1805314;1806112;1806680;1806682;1807004;1807202;1807600;1808008;1808434;1808494;1808644;1809132;1809474;1809546;1810322;1810912;1811304;1812284;1812854;1812984;1813068;1813290;1813524;1813948;1814414;1816182;1816526;1816682;1817724;1818144;1818482;1819230;1819970;1820038;1820834;1821380;1821382;1821634;1822082;1822580;1825112;1825502;1825726;1826860;1827118;1827292;1828650;1829602;1830936;1831368;1834146;1834438;1834966;1836084;1838192;1840142;1841312;1842776;1994622;1994624;1994626;1994628;1994630;1994632;1994634;1994636;1994638;1994640;1994642;1994644;1994646;1994648;1994650;1994652;1994654;1994656;1994658;1994660;1994662;1994664;1994666;1994668;1994670;1994672;1994674;1994676;1994678;1994680;1994682;1994684;1994686;1994688;1994690;1994692;1994694;1994696;1994698;1994700;1994702;1994704;1994706;1994708;1994710;1994712;1994714;1994716;1994718;1994720;1994722;1994724;1994726;1994728;1994730;1994732;1994734;1994736;1994738;1994740;1994742;1994744;1994746;1994748;1994750;1994752;1994754;1994756;1994758;1994760;1994762;1994764;1994766;1994768;1994770;1994772;1994774;1994776;1994778;1994780;1994782;1994784;1994786;1994788;1994790;1994792;1994794;1994796;1994798;1994800;1994802;1994804;1994806;1994808;1994810;1994812;1994814;1994816;1994818;1994820;1994822;1994824;1994826;1994828;1994830;1994832;1994834;1994836;1994838;1994840;1994842;1994844;1994846;1994848;1994850;1994852;1994854;1994856;1994858;1994860;1994862;1994864;1994866;1994868;1994870;1994872;1994874;1994876;1994878;1994880;1994882;1994884;1994886;1994888;1994890;1994892;1994894;1994896;1994898;1994900;1994902;1994904;1994906;1994908;1994910;1994912;1994914;1994916;1994918;1994920;1994922;1994924;1994926;1994928;1994930;1994932;1994934;1994936;1994938;1994940;1994942;1994944;1994946;1994948;1994950;1994952;1994954;1994956;1994958;1994960;1994962;1994964;1994966;1994968;1994970;1994972;1994974;1994976;1994978;1994980;1994982;1994984;1994986;1994988;1994990;1994992;1994994;1994996;1994998;1995000;1995002;1995004;1995006;1995008;1995010;1995012;1995014;1995016;1995018;1995020;1995022;1995024;1995026;1995028;1995030;1995032;1995034;1995036;1995038;1995040;1995042;1995044;1995046;1995048;1995050;1995052;1995054;1995056;1995058;1995060;1995062;1995064;1995066;1995068;1995070;1995072;1995074;1995076;1995078;1995080;1995082;1995084;1995086;1995088;1995090;1995092;1995094;1995096;1995098;1995100;1995102;1995104;1995106;1995108;1995110;1995112;1995114;1995116;1995118;1995120;1995122;1995124;1995126;1995128;1995130;1995132;1995134;1995136;1995138;1995140;1995142;1995144;1995146;1995148;1995150;1995152;1995154;1995156;1995158;1995160;1995162;1995164;1995166;1995168;1995170;2095424;2095426;2095428;2095430;2095432;2095434;2095436;2095438;2095440;2095442;2095444;2095446;2095448;2095450;2095452;2095454;2095456;2095458;2095460;2095462;2095464;2095466;2095468;2095470;2095472;2095474;2095476;2095478;2095480;2095482;2095484;2095486;2095488;2095490;2095492;2095494;2095496;2095498;2095500;2095502;2095504;2095506;2095508;2095510;2095512;2095514;2155572;2168917;2169489;2216982;5022200 A006Y44;ACSL6_3557;ECD00105;ECD00500;ECD00925;ECD01058;ECD01283;ECD01488;ECD01787;ECD01809;ECD01860;ECD01997;ECD02550;ECD02815;ECD02976;ECD03604;ECD04010;ECD04297;ECD04298;ECD04467;ECD04567;ECD04772;ECD04982;ECD05198;ECD05229;ECD05304;ECD05555;ECD05729;ECD05765;ECD06153;ECD06454;ECD06650;ECD07149;ECD07440;ECD07506;ECD07553;ECD07665;ECD07783;ECD08001;ECD08236;ECD09131;ECD09305;ECD09384;ECD09915;ECD10128;ECD10302;ECD10682;ECD11056;ECD11091;ECD11493;ECD11774;ECD11775;ECD11903;ECD12127;ECD12378;ECD13657;ECD13859;ECD13971;ECD14545;ECD14674;ECD14761;ECD15452;ECD15932;ECD16604;ECD16820;ECD18221;ECD18367;ECD18634;ECD19203;ECD20268;ECD21255;ECD21852;ECD22595;HSC2DF112;L18426;REN68219;REN68220;REN68221;REN68222;REN68223;REN68224;REN68225;REN68226;REN68227;REN68228;REN68229;REN68230;REN68231;REN68232;REN68233;REN68234;REN68235;REN68236;REN68237;REN68238;REN68239;REN68240;REN68241;REN68242;REN68243;REN68244;REN68245;REN68246;REN68247;REN68248;REN68249;REN68250;REN68251;REN68252;REN68253;REN68254;REN68255;REN68256;REN68257;REN68258;REN68259;REN68260;REN68261;REN68262;REN68263;REN68264;REN68265;REN68266;REN68267;REN68268;REN68269;REN68270;REN68271;REN68272;REN68273;REN68274;REN68275;REN68276;REN68277;REN68278;REN68279;REN68280;REN68281;REN68282;REN68283;REN68284;REN68285;REN68286;REN68287;REN68288;REN68289;REN68290;REN68291;REN68292;REN68293;REN68294;REN68295;REN68296;REN68297;REN68298;REN68299;REN68300;REN68301;REN68302;REN68303;REN68304;REN68305;REN68306;REN68307;REN68308;REN68309;REN68310;REN68311;REN68312;REN68313;REN68314;REN68315;REN68316;REN68317;REN68318;REN68319;REN68320;REN68321;REN68322;REN68323;REN68324;REN68325;REN68326;REN68327;REN68328;REN68329;REN68330;REN68331;REN68332;REN68333;REN68334;REN68335;REN68336;REN68337;REN68338;REN68339;REN68340;REN68341;REN68342;REN68343;REN68344;REN68345;REN68346;REN68347;REN68348;REN68349;REN68350;REN68351;REN68352;REN68353;REN68354;REN68355;REN68356;REN68357;REN68358;REN68359;REN68360;REN68361;REN68362;REN68363;REN68364;REN68365;REN68366;REN68367;REN68368;REN68369;REN68370;REN68371;REN68372;REN68373;REN68374;REN68375;REN68376;REN68377;REN68378;REN68379;REN68380;REN68381;REN68382;REN68383;REN68384;REN68385;REN68386;REN68387;REN68388;REN68389;REN68390;REN68391;REN68392;REN68393;REN68394;REN68395;REN68396;REN68397;REN68398;REN68399;REN68400;REN68401;REN68402;REN68403;REN68404;REN68405;REN68406;REN68407;REN68408;REN68409;REN68410;REN68411;REN68412;REN68413;REN68414;REN68415;REN68416;REN68417;REN68418;REN68419;REN68420;REN68421;REN68422;REN68423;REN68424;REN68425;REN68426;REN68427;REN68428;REN68429;REN68430;REN68431;REN68432;REN68433;REN68434;REN68435;REN68436;REN68437;REN68438;REN68439;REN68440;REN68441;REN68442;REN68443;REN68444;REN68445;REN68446;REN68447;REN68448;REN68449;REN68450;REN68451;REN68452;REN68453;REN68454;REN68455;REN68456;REN68457;REN68458;REN68459;REN68460;REN68461;REN68462;REN68463;REN68464;REN68465;REN68466;REN68467;REN68468;REN68469;REN68470;REN68471;REN68472;REN68473;REN68474;REN68475;REN68476;REN68477;REN68478;REN68479;REN68480;REN68481;REN68482;REN68483;REN68484;REN68485;REN68486;REN68487;REN68488;REN68489;REN68490;REN68491;REN68492;REN68493;RH66391;SGC31129;SGC32042;SHGC-145256;stSG600946;stSG600947;stSG600948;stSG600949;stSG600950;stSG600951;stSG600952;stSG600953;stSG600955;stSG600956;stSG600957;stSG600958;stSG600960;stSG600961;stSG600962;stSG600963;stSG600965;stSG600966;stSG600967;stSG600968;stSG600969;stSG600970;stSG600971;stSG600972;stSG600973;stSG600974;stSG600975;stSG600976;stSG600977;stSG600978;stSG600979;stSG600980;stSG600981;stSG600982;stSG600983;stSG600984;stSG600985;stSG600986;stSG600987;stSG600988;stSG600989;stSG600990;stSG600991;stSG600992;stSG600993;stSG600994 ACS2;FACL6;FLJ16173;KIAA0837;LACS 6;LACS2;LACS5 OTTHUMP00000065952;OTTHUMP00000065953;OTTHUMP00000065954;OTTHUMP00000065955;OTTHUMP00000065957;OTTHUMP00000065958;OTTHUMP00000198259;OTTHUMP00000198261;fatty-acid-Coenzyme A ligase, long-chain 6;long fatty acyl-CoA synthetase 2;long-chain acyl-CoA synthetase 6;long-chain-fatty-acid--CoA ligase 6 APPROVED protein-coding ENSG00000164398 HGNC:16496 09190 604443 REVIEWED 1604166 ACSM2B acyl-CoA synthetase medium-chain family member 2B ENCODES a protein that exhibits ATP binding (inferred); butyrate-CoA ligase activity (inferred); catalytic activity (inferred); INVOLVED IN fatty acid metabolic process (inferred); metabolic process (inferred); small molecule metabolic process (inferred); PARTICIPATES IN butanoate metabolic pathway; fatty acid beta degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrial matrix (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 16 16 16 p12.3 19857086 19875825 - 20548080 20587695 - 20536758 20576373 - 2317576;6480464;6907045;8554872 17762044 10434065;11415461;12616642;15122652;15221005;16521160;19634011;20679960;8884467;8934636 348158 H3BM61;H3BNJ9;H3BP39;H3BP79;H3BQ84;H3BRR3;H3BTX9;Q68CK6 AB073604;ABBA01028283;ABBA01028284;AC141053;AC141273;AK129944;AK289416;AK309601;AMYH02031665;AY160217;BC026010;DC329427;DC362610;DC362960;DC362964;DC412825;NM_001105069;NM_182617;XM_005255304 AAI72335;AAO17576;BAD38642;BAF82105;NP_001098539;NP_872423;Q68CK6;XP_005255361 Hs.298252;Hs.567879 1653796;1686736;1761895 RH70323;RH93768;SHGC-145832 ACSM2;HXMA;HYST1046 OTTHUMP00000162293;acyl-CoA synthetase medium-chain family member 2;acyl-coenzyme A synthetase ACSM2B, mitochondrial;butyrate--CoA ligase 2B;butyryl-coenzyme A synthetase 2B;middle-chain acyl-CoA synthetase 2B;xenobiotic/medium-chain fatty acid-CoA ligase HXM-A;xenobiotic/medium-chain fatty acid:CoA ligase protein-coding ENSG00000066813 HGNC:30931 17124 614359 VALIDATED 1603027 ACSM5 acyl-CoA synthetase medium-chain family member 5 ENCODES a protein that exhibits ATP binding (inferred); butyrate-CoA ligase activity (inferred); catalytic activity (inferred); INVOLVED IN fatty acid metabolic process (inferred); metabolic process (inferred); PARTICIPATES IN butanoate metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 16 16 16 p12.3 19570305 19620803 + 20420850 20452290 + 20409529 20440968 + 6480464;6907045;8554872 11752456;12477932;17762044;20383146;20877624;21988832 54988 I3L536;Q6NUN0 ABBA01028280;ABBA01028281;AC137056;AK000588;AMYH02031661;AMYH02031662;AV648626;AV653851;AV696798;BC013753;BC016703;BC068516;BX505437;CH471186;NM_017888;XM_006721055;XM_006721056 AAH13753;AAH16703;AAH68516;BAA91273;EAW50317;EAW50318;EAW50319;NP_060358;Q6NUN0;XP_006721118;XP_006721119 Hs.659606 1847885;2153716 SHGC-56399;SHGC-6042 FLJ20581 OTTHUMP00000162289;acyl-coenzyme A synthetase ACSM5, mitochondrial protein-coding ENSG00000183549 HGNC:26060 08627 614361 VALIDATED 735798 ACSM3 acyl-CoA synthetase medium-chain family member 3 ENCODES a protein that exhibits ATP binding (inferred); butyrate-CoA ligase activity (inferred); catalytic activity (inferred); INVOLVED IN fatty acid biosynthetic process (inferred); metabolic process (inferred); PARTICIPATES IN butanoate metabolic pathway; fatty acid beta degradation pathway; ASSOCIATED WITH Colitis, Ulcerative; Glomerulonephritis, IGA; Hypertension; FOUND IN mitochondrial matrix (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 16 16 16 p13.11 20085531 20118378 + 20775312 20808479 + 20763990 20797157 + 1579978;1601004;634023;2317576;6480464;6907045;7241281;7241282;7241283;8554872 11592044;12484505;14567496;17102796;17762044;21987487;8507454 10493829;11158418;11470804;11772874;12046348;12477932;15361761;16341674;17070428;17278971;18192838;18519841;18660489;19108963;19262474;19578796;19913121;20084102;20379614;20628086;20679960;20877624;7843754;7907320;8125298;8135833 6296 H3BR33;H3BSM0;H3BT38;H3BTG0;H3BUF2;H3BV29;H3BVD5;Q53FZ2 ABBA01028286;AC004381;AK223139;AK290322;AK296122;AMYH02031666;BC002790;BI770558;BI826935;BM828310;BU170035;CA425752;CH471228;D16350;KC877592;NM_005622;NM_202000;X80062;XM_005255466 AAC31667;AAH02790;ABM83905;ABM87226;ABW03856;BAA03853;BAD96859;BAF83011;BAG58869;CAA56369;EAW66834;EAW66835;NP_005613;NP_973729;Q53FZ2;XP_005255523 Hs.706754 1651177;1669992;1743819;1761229 GDB:374124;SHGC-145237;SHGC-60682;SHGC-60770 SA;SAH OTTHUMP00000162290;SA (rat hypertension-associated) homolog;SA hypertension-associated homolog;acyl-coenzyme A synthetase ACSM3, mitochondrial;butyrate--CoA ligase 3;butyryl-coenzyme A synthetase 3;middle-chain acyl-CoA synthetase 3;protein SA homolog;sa rat hypertension-associated homolog 2315775 GLUCO145_H protein-coding ENSG00000005187 HGNC:10522 07033 145505 VALIDATED 1344514 ACSM6 acyl-CoA synthetase medium-chain family member 6 ENCODES a protein that exhibits ATP binding (inferred); butyrate-CoA ligase activity (inferred); catalytic activity (inferred); INVOLVED IN fatty acid metabolic process (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 1,2-dibromoethane (ortholog); 1-benzofuran (ortholog); 17alpha-ethynylestradiol (ortholog) 10 10 10 q23.33 90695101 90729842 + 96953957 96988686 + 95194200 95228929 + 6480464;8554872 12477932;16385451;23884467 142827 H7BXS6;H7BYZ2;Q6P461 ABBA01021840;AK126134;AL157834;AMYH02023579;BC063654;BC104210;BC104211;BC112988;BC148184;CH471066;NM_207321 AAH63654;AAI04211;AAI04212;AAI12989;BAC86458;EAW50014;NP_997204;Q6P461 Hs.134229 1721313;1747837;5094310 G54703;G59656;G65756 C10orf129;bA310E22.3 AMP-binding enzyme;OTTHUMP00000020136;acyl-coenzyme A synthetase ACSM6, mitochondrial APPROVED protein-coding ENSG00000173124 HGNC:31665 12565 VALIDATED 1603012 ACSS3 acyl-CoA synthetase short-chain family member 3 ENCODES a protein that exhibits acetate-CoA ligase activity (inferred); ATP binding (inferred); catalytic activity (inferred); INVOLVED IN metabolic process (inferred); PARTICIPATES IN propanoate metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH arsenite(3-); calcitriol; copper(2+) sulfate 12 12 12 q21.31 81138032 81316367 + 81471797 81650538 + 81022383 81256759 + 6480464;6907045;8554872 12477932;17762044;20379614;21988832;23726668 79611 F8VZB4;H0YII9;Q9H6R3 ABBA01053486;ABBA01053487;ABBA01053488;ABBA01053489;AC078920;AC078955;AC134506;AK025616;AK074267;AK074938;AMYH02026831;AMYH02026832;AMYH02026833;AMYH02026834;AMYH02026835;AX764480;AX764482;BC009317;BC015769;CH471054;HC890635;HC895167;NM_024560;XM_005269150;XM_005269151;XM_006719601 AAH09317;AAH15769;BAB15190;BAC11304;CAE00104;CAE00105;CBN59805;CBN62022;EAW97372;EAW97373;NP_078836;Q9H6R3;XP_005269207;XP_005269208;XP_006719664 Hs.259559 1698720;1749769;1777800;1788960;2120388 G65555;RH102920;RH1603;RH46043;SHGC-111519 FLJ21963 AMP-binding enzyme, 33217;OTTHUMP00000243129;OTTHUMP00000243130;OTTHUMP00000243131;acyl-CoA synthetase short-chain family member 3, mitochondrial protein-coding ENSG00000111058 HGNC:24723 13385 614356 VALIDATED 1314754 ACSS1 acyl-CoA synthetase short-chain family member 1 This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 20 20 20 p11.23-p11.21 25060679 25113427 - 24986866 25038818 - 25005147 25058182 - 1580863;2317576;6480464;6907045;8554872 17762044 11150295;11214971;11347906;11780052;12477932;14702039;15489334;16788062;19535340;19617323;19724895;19851296;20125193;20198315;20379614;20877624 84532 Q1RMZ4;Q5TF43;Q6ZV30;Q9NUB1 AB058749;ABBA01048732;AK024396;AK024424;AK027817;AK090851;AK092295;AK094414;AK125058;AK125923;AK127566;AK296306;AK314440;AL035661;AL080312;AL832939;AL833041;AMYH02036843;AW024920;BC032076;BC039261;BC044588;BC055008;BC114612;BM150326;CH471133;DC404033;NM_001252675;NM_001252676;NM_001252677;NM_032501;XM_006723657;XM_006723658;XM_006723659 AAH39261;AAH44588;AAH55008;AAI14613;BAB15714;BAB47475;BAB55390;BAC03530;BAC03853;BAC86035;BAG54524;BAG59005;CAH56303;CAH56320;EAX10106;EAX10107;EAX10108;EAX10109;EAX10110;EAX10111;NP_001239604;NP_001239605;NP_001239606;NP_115890;Q9NUB1;XP_006723720;XP_006723721;XP_006723722 Hs.529353 1662476;1672854;1694714;1777019;5037552 AL030974;D20S1043;D8S2279;G43548;WI-11267 ACAS2L;ACECS1;AceCS2L;FLJ45659;MGC33843 OTTHUMP00000030470;acetate--CoA ligase 2;acetyl-coenzyme A synthetase 2-like, mitochondrial APPROVED protein-coding ENSG00000154930 HGNC:16091 12413 614355 REVIEWED 1313544 ACSS2 acyl-CoA synthetase short-chain family member 2 This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 20 20 20 q11.22 30211860 30264862 + 33462766 33515769 + 34874963 34927966 + 1580863;2317576;6480464;6907045 17762044 10843999;11780052;12477932;14702039;15231747;15489334;16344560;16788062;18029348;18660489;19617323;19913121;20353815;20416077;20628086;21890473;21906983;25108527 55902 B3KUV2;B4DEH9;C9IYL0;C9J7L5;C9JXD9;C9JY31;F8WBQ7;F8WC73;F8WCJ4;F8WDJ9;Q4G0E8;Q6DKJ3;Q96FY7;Q9NR19 ABBA01019175;AF263614;AI674262;AK000162;AK000188;AK022608;AK025990;AK092281;AK098026;AK293634;AL049709;AL133324;AL359946;AMYH02036985;AMYH02036986;BC010141;BC012172;BC073846;BC098422;CH471077;CR749716;DA411343;DA626707;DA628275;DA630609;NG_011520;NM_001076552;NM_001242393;NM_018677;XM_005260455;XM_005260456;XM_006723825;XM_006723826 AAF75064;AAH10141;AAH12172;AAH73846;AAH98422;BAB14127;BAC03849;BAG53564;BAG57090;CAH18485;EAW76242;EAW76243;EAW76244;EAW76245;EAW76246;EAW76247;EAW76248;NP_001070020;NP_001229322;NP_061147;Q9NR19;XP_005260512;XP_005260513;XP_006723888;XP_006723889 Hs.517034 1340980;2128026;2218174;7185359 ACAS2__4238;D20S106;D20S532E ACAS2;ACS;ACSA;DKFZp762G026;dJ1161H23.1 ACECS;OTTHUMP00000030713;OTTHUMP00000030717;acetate thiokinase;acetate--CoA ligase;acetate-CoA ligase;acetyl-Coenzyme A synthetase 2 (ADP forming);acetyl-coenzyme A synthetase, cytoplasmic;acyl-activating enzyme;cytoplasmic acetyl-coenzyme A synthetase APPROVED protein-coding ENSG00000131069 HGNC:15814 605832 REVIEWED 8694255 ACTA2-AS1 ACTA2 antisense RNA 1 10 10 10 q23.31 84439439 84441529 + 90692418 90695012 + 88932747 88934927 + 14702039;24721325 100132116 ABBA01021951;AK093340;AL157394;AMYH02023506;AX748062;HG503125;NR_125373;XR_110433;XR_111103;XR_171864 Hs.713690 1742207;1778885;2154281 D10S2177;GDB:193816;RH44176 ZXF1;uc001kfo.1 ncrna HGNC:45169 VALIDATED 737580 ACTA1 actin, alpha 1, skeletal muscle The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 202835304 202838155 - 229566992 229569858 - 229431245 229434096 - 1298659;1598720;1300347;1300247;1559154;6480464;7240710;8554872;8699517 10072583;12921789;16452123;704397;734918 10049817;10074138;10224093;10320340;10366597;10438535;10491393;10508519;10556093;10559237;10564664;10575001;10581178;10583954;10601340;10628374;10666339;1074709;10793131;10806479;10882740;10958653;10984435;11018051;11027608;11053353;11071908;11090452;11102443;11106625;11166164;11171322;11259305;11297527;11309382;11333380;11415434;11429692;11438522;11441066;11461920;11468283;11481347;11524436;11536049;11580270;11583571;11687588;11691822;11701614;11702052;11707283;11709093;11795944;11812134;11821948;11839310;11850458;11877456;11889126;11897493;11950878;11969288;12006649;12009869;12033495;12044158;12048248;12062430;12119014;12127568;12163017;12210873;12383268;12384700;12388543;12417592;12417594;12438125;12438242;12466270;12475945;12477932;12480535;12534372;12554937;12571245;12665555;12695497;12714565;12721663;12849983;12857853;1383230;1423520;14506234;14507647;14532270;14576350;14592989;14594945;14634002;14640694;14668487;14676314;14684598;14688263;14690596;14694110;14702039;14966270;15059972;15072110;15107502;15149849;15152255;15198992;15236405;15336687;1540415;1544421;15454575;15468086;15489334;15494313;15507486;15520409;15558034;15679046;15772115;16009940;16051665;16427282;16461343;16501887;16526095;16568092;16751776;16916647;16945536;17010111;17082770;17194691;17194709;17203973;17266347;17360745;17361185;17387733;17411366;17504171;17573780;17620599;18063690;1808202;18157088;18443296;18461503;18662664;18775311;18781797;18976909;19002257;1907279;19150851;19199708;19233165;19380743;19383239;19389844;19454010;19553474;19562689;19634497;19635823;19639585;19710135;19819966;19883584;1991513;19934221;19948975;20100475;20147394;20169155;20179953;20201926;20301436;20301465;20305087;20332100;20378355;20388088;20391533;20452215;20630939;20639865;20686692;20716950;20718862;20809254;20826790;20972266;21079800;21080425;21108927;21139048;21145461;21151833;21199870;21203488;21319273;21340023;21385873;21464227;21514153;21606541;2161834;21691712;21723825;21764995;21824169;21890473;21906983;21912905;21917091;21923909;21931536;21963094;21975552;21987572;21994733;21994736;22004035;22017400;22028271;22031939;22053931;22081313;22209233;22362758;22465675;22505724;22535526;22537596;22640593;22721673;22863883;22989508;23000965;23017337;23042265;23071112;23071671;23174700;23176180;23178941;23190606;23229356;23246001;23247112;23260110;23294842;23376163;23420843;23443559;23575248;23656990;23811015;23831272;23875777;2395459;24106267;24255178;24292274;24313005;2455687;24576301;24816145;25015289;25027693;2907503;2936753;3793760;3842206;6190133;648524;6865942;6893424;7503723;7642559;7680654;7703225;7780165;7816144;7820861;7908020;7908614;8258301;8395021;8399167;8413665;8416954;8422497;8567732;8612804;8661406;8892894;8997639;8999969;9153421;9199170;9214391;9251807;9298982;9417078;9490638;9512503;9645951;9668039;9695962;9724539;9792688;9832551;9841925;9852149;9971772 58 A6NL76;P68133;Q5T8M7;Q5T8M8 ABBA01009822;AF182035;AK096902;AK300697;AL160004;AL598491;AMYH02002868;AMYH02002869;AY280960;BC012597;BX648545;CH471098;CR536516;CR541796;J00068;M20543;NG_006672;NM_001100 AAA60296;AAB59376;AAF02694;AAH12597;AAP37280;ABM83875;ABM87196;BAG53395;BAH13327;CAG38754;CAG46595;EAW69898;NP_001091;P68133 Hs.1288 1667201;2106947;2113634;5019357;5023519 ACTA1_3134.2;PMC110143P1;PMC23952P1;RH36158;UniSTS:478947 ACTA;ASMA;CFTD;CFTD1;CFTDM;MPFD;NEM1;NEM2;NEM3 OTTHUMP00000036123;OTTHUMP00000037464;OTTHUMP00000037465;actin alpha 1;actin, alpha skeletal muscle;alpha skeletal muscle actin;alpha-actin-1;nemaline myopathy type 3 APPROVED protein-coding ENSG00000143632 HGNC:129 00030 102610;161800;255310 REVIEWED 1603843 ACTBL2 actin, beta-like 2 ENCODES a protein that exhibits ATP binding (inferred); FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; genistein; (+)-catechin (ortholog) 5 5 5 q11.2 53730699 53733492 - 56775843 56778636 - 57480016 57482809 - 6480464 12477932;16824795;17203973;19056867;19156129;19471022;20086096;20473970;20639865;20876399;20972266;21110914;21139048;21145461;21693764;21890473;21906983;21963094;21987572;22053931;22178446;22219177;22266860;22505724;22562506;22810585;22863883;23862649;23874603;24124408;24244333;24332808;24816145 345651 Q562R1 ABBA01015777;AC025470;AMYH02011342;AY970384;AY970433;AY970451;AY970452;BC137470;BC137473;BX648504;CH471123;NM_001017992 AAI37471;AAI37474;AAX82193;AAX82242;AAX82259;AAX82260;EAW54967;NP_001017992;Q562R1 Hs.482167 5023529 PMC305873P2 ACT;DKFZp686D0972 OTTHUMP00000221904;actin-like protein;beta-actin-like protein 2;kappa-actin;similar to riken cdna 4732495g21 gene protein-coding ENSG00000169067 HGNC:17780 18598 614835 VALIDATED 735801 ACTB actin, beta This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq, Jul 2008] 7 7 7 p22 5526560 5530009 - 5566779 5570232 - 5527148 5530601 - 1298665;1300347;5147998;6480464;6907045;7240710;8547669;8554872;9587751;8699517;9587759;9495920;9495926 11226670;1505215;20624897;21358755;21502417;22563491;23237195;734918 10049817;10074138;10078207;10381382;10403844;10411937;10470015;10470109;10547355;10556093;10600384;10601251;10604479;10677499;10683146;10748209;10773068;10787407;10792467;10833443;10851017;10866806;10945978;10966108;11027608;11029056;11078522;11238447;11257002;11326315;11350761;11357136;11373276;11415434;11461920;11487543;11532003;11533442;11535601;11563969;11579089;11580269;11583571;11673475;11691822;11696420;11707406;11709093;11721045;11787062;11790298;11812134;11832213;11839798;11846445;11854414;11937625;11940582;11950601;11950878;11955010;11964161;11983702;12009869;12029088;12062430;12080081;12082080;12202484;12388067;12435603;12456645;12470643;12477932;12522145;12547197;12591166;12639940;12665555;12665801;12670476;12673016;12679033;12704194;12853948;12857853;12963728;14592989;14597672;14623863;14634002;14694110;14702039;14729568;14760703;14966270;15009096;15009185;15047060;15101111;15107502;15111311;15121898;15135048;15140972;15175327;15208678;15231747;15231748;15328537;15361876;15371598;1540415;15489334;15502823;15527767;15555571;15556561;1555776;15558034;15574586;15592455;15673434;15710247;15711563;15746964;15834686;15862967;15897890;15940343;15952740;16021519;16091223;16101678;16130169;16146415;16148048;16179592;16186248;16189514;16196087;16210567;16217013;16226712;16289162;1629950;16364312;16375898;16502470;16526095;16536728;16549430;1662743;16685646;16687403;16762366;16824795;16944923;17181997;17203973;17289661;1734024;17342765;17353003;17360745;17361185;17373842;17411366;17502619;17504171;17548472;17573780;17599063;17620012;17620599;17643375;17651734;17676665;17683050;17868192;17939680;17955473;18000879;18160415;18261463;18331289;18364388;18443296;18457437;18478542;18533937;18654668;18680169;18775311;18781797;18809673;19041431;1907279;19167051;19309309;19322201;19338310;19380743;19451231;19475567;19477923;19538885;19638415;19639585;19710135;19725029;19738201;19802004;19805454;19883584;1991513;19928837;19946888;20081228;20147394;20197409;20201613;20308691;20381070;20391533;20473970;20618440;20639865;20804785;20856200;20876399;20946988;20972266;21044950;21045147;21110914;21139048;21145461;21163940;21172822;21182203;21182205;21203488;21221983;21300803;21319273;21455487;21555369;2155660;21565611;21575865;21668410;21670154;21726808;21734401;21800051;21890413;21890473;21900206;21906983;21917091;21923909;21942715;21963094;21987572;21988832;22004035;22053931;22079093;22178446;22234250;22272336;22285204;22323290;22323606;22366783;22465675;22505724;22535526;22536838;22573825;22623428;22623727;22640593;22721673;22751105;22797925;22855531;22939629;22944692;22961449;22989508;23017337;23071112;23077236;23084401;23091630;23125841;23184937;23221571;23246001;23260110;23266771;23294842;23326330;23383273;23395798;23398456;23428871;23443559;23447706;23463506;23466368;23482560;23535377;23575248;23811015;23825951;23862649;23874603;23875777;24040060;24068947;24129186;24225952;24244333;24250222;24332808;24337577;24415753;24583282;24591637;24639526;24657165;24768539;24789788;24789789;24816145;24826067;25015289;25027693;274701;2837653;2994062;3335520;3842206;435297;6202424;6304075;6322116;6686106;6842590;6865942;7103951;7535922;7820861;7821789;7876306;7876308;7929073;8050815;8125298;8228254;8319567;8341682;8547189;8605189;8619402;8639502;8661406;8761950;8780737;8892894;8913639;8941379;8997639;9013719;9108196;9150887;9209005;9245787;9252372;9268132;9288906;9295142;9359436;9463375;9487115;9525888;9563518;9676236;9686908;9739080;9813091;9841925;9845365;9847074;9848085;9848710;9971772 60 B3KWQ3;C9JTX5;C9JUM1;C9JZR7;E7EVS6;G5E9R0;P60709;Q1KLZ0 ABBA01039461;AC006483;AK025375;AK058019;AK098751;AK130062;AK130157;AK222925;AK223032;AK223055;AK225414;AK301372;AK304552;AK308277;AK309997;AK316361;AMYH02015141;AY582799;AY970442;BC001301;BC002409;BC004251;BC008633;BC009636;BC012854;BC013380;BC013835;BC014401;BC014861;BC016045;BC023204;BC113036;CH471144;CS081475;D28354;DQ407611;DQ471327;EF036500;EF095209;FB571104;FB668235;GN346972;K00790;M10277;M28424;NG_007992;NM_001101;V00478;X00351;X63432;XM_006715764 AAA51567;AAA51578;AAB16906;AAH01301;AAH02409;AAH04251;AAH08633;AAH12854;AAH13380;AAH14861;AAH16045;AAI13037;AAP22343;AAS79319;AAX82251;ABD66582;ABF01018;ABL01513;ABM81886;ABM85054;ABO65086;BAA05720;BAD96645;BAD96752;BAD96775;BAG62914;BAG65347;BAH14732;CAA23745;CAA25099;CAA45026;CAI95947;CAR95103;CAS92761;CAY56012;EAW87341;EAW87343;NP_001092;P60709;XP_006715827 Hs.520640 1791422;1793360;1793732;1794552;1794984;2089064;2190487;2218708;5014437;5016584;5019351;5019353;5019357;5019363;5019371;5019379;5019389;5019545;5023519;5023521;5023523;5023529;5023549;5038458;5126815;5126817 ACTB-L;ECD18704;G15871;G49387;GDB:624560;PMC108612P1;PMC109445P1;PMC109669P1;PMC109689P1;PMC110143P1;PMC110200P1;PMC117780P1;PMC129447P1;PMC133998P8;PMC151817P1;PMC21334P2;PMC23952P1;PMC24561P1;PMC24942P1;PMC26753P1;PMC305873P2;PMC317352P1;PMC85795P4;PMC86716P1;REN115794;RI01350 BRWS1;PS1TP5BP1 OTTHUMP00000024886;PS1TP5-binding protein 1;actin, cytoplasmic 1;beta cytoskeletal actin APPROVED protein-coding ENSG00000075624 HGNC:132 00032 102630;243310;607371 REVIEWED 2293113 ACTBP11 actin, beta pseudogene 11 1 1 1 q41 197207139 197208548 - 224051028 224052637 - 223863326 223864935 - 644220 ABBA01008153;AC096542;AMYH02002766;NG_007577 1793664;1794978;1794984 PMC24644P5;PMC86650P1;PMC86716P1 pseudo HGNC:33971 INFERRED 7240981 ACTBP14 actin, beta pseudogene 14 10 10 10 q22.1 64058403 64059491 + 70782534 70783622 + 69022778 69023866 + 389976 ABBA01019597;AL359844;AMYH02023268;NG_022182 pseudo HGNC:45086 INFERRED 1348351 ACTA2 actin, alpha 2, smooth muscle, aorta The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008] 10 10 10 q23.3 84441676 84497934 - 90694831 90751147 - 88935074 88991390 - 1298662;6480464;6484113;7240710;8554872;8699517 2398629 10049817;10074138;10341211;10556093;10628374;11037796;11580270;11707283;11709093;11812134;12009869;12119014;12355421;12477932;12777385;14530271;14627618;14694110;15032605;15164054;15342556;1540415;15489334;15555551;1555776;15588509;15618548;15703204;15862967;16051665;16115228;16289162;16385451;16526095;16548883;16573163;17360745;17411366;17464107;17504171;17626241;17786474;17994018;18443296;18468998;18775311;18781797;1907279;19261809;19285011;1939373;19409525;19531499;19639585;19639654;19654303;19683985;1969628;19745835;19788615;19883584;19913121;1991513;20128380;20132408;20147394;2022339;20237496;20301299;20381122;20618440;20628086;20628268;20639865;20689142;20694011;20734336;20876399;20970362;20972266;21131735;21139048;21145461;21212136;21233699;21248741;21288906;21343850;21477997;21496259;21530503;21553326;21612641;21617610;21815248;21890473;21906983;21917091;21923909;21937134;21937873;21963094;21987572;21996542;22001912;22004035;22053931;22133903;22138123;22232431;22395512;22460095;22465675;22479424;22505724;22535526;22543453;22619371;22640593;22721673;22790431;22810585;22831780;22939629;22946110;2295650;22960022;22989508;23000965;23017337;23020218;23068445;23071112;23116162;23178941;23182716;23246001;23260110;23294842;23443559;23575248;23770605;23788249;23794425;23811015;23874603;23875777;23879759;23973329;23982059;23995859;24024919;24244333;24292274;24322015;24332808;24446247;24816145;25027693;2612915;2701935;3842206;6330528;6725286;7780165;8138584;8661406;8892894;8997639;9512352;9546431;9841925;9971772 59 D2JYH4;F6QUT6;F6UVQ4;P62736 ABBA01021950;ABBA01021951;AK300664;AK313294;AL157394;AMYH02023506;AMYH02023507;AY692464;BC017554;BC093052;BP379410;BQ029841;CH471066;CR536518;D00618;DC304647;DC354672;DC385559;GU143396;J05192;K01741;K01742;K01743;K01744;K01745;K01746;K01747;M33216;NG_011541;NM_001141945;NM_001613;X13839 AAA51577;AAA51586;AAA60560;AAH17554;AAH93052;AAW29811;ABM83317;ABM86532;ACZ58370;BAA00492;BAG36101;BAG62350;CAA32064;CAG38756;EAW50153;EAW50154;EAW50155;NP_001135417;NP_001604;P62736 Hs.500483 1742219;1761389;1778885;1789048;1797064;2120953;2154281;2160554;2166095;5023519 ACTA2_(5);D10S2177;G65659;GDB:193855;PMC23952P1;RH44176;RH45184;SHGC-145404;SHGC-30457;SHGC-30908 AAT6;MYMY5 ACTSA;OTTHUMP00000020042;actin, aortic smooth muscle;alpha 2 actin;alpha-actin-2;alpha-cardiac actin;cell growth-inhibiting gene 46 protein;growth-inhibiting gene 46 APPROVED protein-coding ENSG00000107796 HGNC:130 00031 102620;611788;613834;614042 REVIEWED 1353115 ACTBP10 actin, beta pseudogene 10 14 14 q11.2 19987119 19988846 - 18998860 19000587 + 446207 AL589182;AMYH02028798;NG_032756 pseudo HGNC:31819 INFERRED 1344030 ACTBP2 actin, beta pseudogene 2 5 5 5 q14.1 72974637 72976430 + 77080627 77082421 + 77784803 77786597 + 23650840;3837182;6571702 62 ABBA01061984;AC035147;AMYH02011622;NG_003019 1728921;1793046;1793732;1794552;1794984;2190487 ACTB-L;Actb-rs1;PMC193670P1;PMC26753P1;PMC317352P1;PMC86716P1 pseudo HGNC:135 INFERRED 1347270 ACTBP12 actin, beta pseudogene 12 1 1 1 p21 90940994 90941434 - 92694573 92695013 - 92229016 92229456 - 1692956 100462767 ABBA01045550;AL451010;AMYH02001480;NG_026958 ACTGP5 APPROVED pseudo HGNC:150 INFERRED 1349890 ACTBP1 actin, beta pseudogene 1 X X X p11.3 50339355 50340469 - 46147449 46148563 - 46288014 46289128 - 3837182 61;643309 ABBA01052189;AL034402;AMYH02039256;NG_022596 pseudo HGNC:134 INFERRED 7176820 ACTBP13 actin, beta pseudogene 13 3 3 3 p21.31 49876588 49880549 - 49910778 49914739 - 49873345 49877306 - 389120 ABBA01024571;AC105935;AMYH02006760;NG_028183 pseudo HGNC:44626 INFERRED 1348315 ACTBP5 actin, beta pseudogene 5 65 HGNC:138 1353051 ACTBP3 actin, beta pseudogene 3 18 18 q21.33 57360278 57360705 - 59693046 59693473 - 3837182 63 ABBA01056169;AC010776;AMYH02034833;NG_032175 pseudo HGNC:136 INFERRED 1345201 ACTBP6 actin, beta pseudogene 6 8 8 8 q21.2 81865138 81866904 + 85860744 85862510 + 84948509 84950275 + 66 ABBA01004019;AC091175;AMYH02018344;M55014;NG_008793 H8-PSI-BETA-AC3 pseudo HGNC:139 INFERRED 1350369 ACTBP4 actin, beta pseudogene 4 5 5 5 q31.1 127124422 127126184 - 130994133 130995892 - 131658440 131660199 - 3837182 64 ABBA01068821;AC008695;AMYH02012203;AMYH02012204;NG_003020 pseudo HGNC:137 INFERRED 1348995 ACTBP8 actin, beta pseudogene 8 6 6 6 q15 89403116 89404729 - 88985024 88986792 - 88275305 88277073 - 1298666 6296793 1561114;20339536;6571702;9345905 68 ABBA01040517;AL139042;AMYH02014067;NG_000840;V00481 1741823;1741853 GDB:185264;GDB:185752 ACTBP2 pseudo HGNC:141 INFERRED 1351732 ACTBP7 actin, beta pseudogene 7 15 15 15 q15.3 21170156 21171943 - 44280676 44282463 - 43988478 43990265 - 1298666 6296793 6571702 67 ABBA01039218;AC090516;AMYH02030328;NG_002724;V00479 pseudo HGNC:140 INFERRED 1346494 ACTBP9 actin, beta pseudogene 9 18 18 18 q21.33 56828402 56830193 + 60109157 60110948 + 62441924 62443715 + 1298670 8941379 69 ABBA01056193;AC100843;AMYH02034868;D50604;NG_003162 pseudo HGNC:142 INFERRED 735789 ACTC1 actin, alpha, cardiac muscle 1 Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008] 15 15 15 q14 11839644 11847274 - 35080297 35087927 - 34788096 34795726 - 1298672;1559158;1598724;1598727;1598729;1300348;1300248;6480464;6907045;7240710;8554872;8699517 11680626;14654066;16343576;1639426;704424;734919;9563954 10049817;10074138;10330430;10397770;10494087;10528865;10556093;10847344;10966831;11709093;11936879;11968018;11983702;11997265;12009869;12011427;12019562;12029088;12042308;12063253;12087068;12110694;12118075;12134071;12136158;12139639;12207032;12270929;12271120;12358155;12408964;12417592;12438125;12445881;12452439;1246600;12477932;12554937;12721663;12771190;12898519;14507647;14694110;14702039;14760703;14988412;15337165;1540415;15489334;15576338;1602151;16169070;16196087;16199542;16288873;16526095;16611632;16754800;16967490;17360745;17411366;17504171;17606992;17611253;17620599;1762945;17765196;17947298;18403758;18443296;18477565;18506004;18513529;18515362;18775311;18781797;18952430;1907279;19293840;19639585;19799913;19805454;19853701;19875404;19883584;19913121;1991513;19946888;20031618;20086309;20147394;20301486;20301725;20308691;20359594;20391533;20474083;20508642;20628086;20639865;20835239;20962418;20972266;21110914;21139048;21150319;21182205;21622575;21778192;21800051;21890473;21900206;21906983;21917091;21923909;21963094;21987572;21988832;22004035;22053931;22082156;22219177;22266860;22465675;22505724;22535526;22573825;22623428;22640593;22643837;22939629;22980331;22989508;23000965;23017337;23071112;23084401;23246001;23260110;23294842;23398456;23575248;23788249;23811015;23875777;24144296;24461919;24736382;24816145;25027693;3789022;6272269;6273789;6310553;6584914;6689196;7780165;8127865;8163527;8661406;8892894;8913639;8997639;9841925;9848085;9971772 70 B3KPP5;P68032 ABBA01038521;AC087457;AI222203;AK056592;AK129892;AK129902;AK290616;AMYH02030179;BC009978;CH471125;CR541795;CR737466;DB504220;J00070;J00071;J00072;J00073;NG_007553;NM_005159 AAB59619;AAH09978;ABM84022;ABM87368;BAF83305;BAG51757;CAG46594;EAW92316;EAW92317;EAW92318;NP_005150;P68032 Hs.118127 1741645;2130431;2177805;5019379;5023519;5491332;5492092 GDB:181605;GDB:186852;PMC133998P8;PMC149351P1;PMC23952P1;SHGC-35611;STS_ADH2 ACTC;ASD5;CMD1R;CMH11;LVNC4 OTTHUMP00000160081;actin alpha cardiac 1;actin, alpha cardiac muscle 1;alpha-cardiac actin APPROVED protein-coding ENSG00000159251 HGNC:143 00015 102540;612098;612794;613424 REVIEWED 7174869 ACTG1P12 actin, gamma 1 pseudogene 12 3 3 3 12048868 12050003 + 12111725 12112860 + 12070225 12071360 + 100418921 ABBA01025208;AC026166;AMYH02006284;NG_025675 pseudo HGNC:44496 INFERRED 7257631 ACTG1P13 actin, gamma 1 pseudogene 13 3 3 3 97322549 97323356 - 98934070 98934877 - 99215226 99216033 - 100418920 ABBA01061808;AC092181;AMYH02007294;NG_025603 pseudo HGNC:49058 INFERRED 3207729 ACTG1P11 actin, gamma 1 pseudogene 11 Y Y Y q11.221 5217516 5225609 - 20309696 20311604 + 18147810 18149718 + 9847074 414754 AC024183;NG_004636 2188611 G66357 pseudo HGNC:37651 VALIDATED 1345992 ACTG1P1 actin, gamma 1 pseudogene 1 3 3 3 q23 137635491 137637432 + 139212582 139214524 + 139493740 139495682 + 8941379 73 ABBA01059063;AC097103;AMYH02007791;D50658;M55082;NG_001068 ACT1GP1;ACTGP1;HY-psi-gamma-AC6 APPROVED pseudo HGNC:146 INFERRED 8548091 ACTG1P14 actin, gamma 1 pseudogene 14 9 9 9 6765258 6766370 + 6834462 6835574 + 6834462 6835574 + 100418910 ABBA01065379;AL354707;AMYH02019104;NG_023870 pseudo HGNC:49751 INFERRED 1349704 ACTG1P10 actin, gamma 1 pseudogene 10 X X X p11.22 57001421 57002329 - 53170870 53173166 - 53141688 53143984 - 6592095 83 ABBA01056377;AL139396;AMYH02039459;NG_003039 1791616;2218708 PMC117352P1;RI01350 ACTGP10;ACTL1;ACTP1 APPROVED pseudo HGNC:155 INFERRED 1312061 ACTG1 actin, gamma 1 Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] 17 17 17 q25 2732 5130 - 79476997 79479892 - 81509971 81512890 - 1331525;6480464;6907045;7240710;8547669;8554872;8699517 15118671;20624897 10049817;10074138;10556093;10662538;10713718;10772929;10781580;10848969;10903505;10925289;10958671;10970852;11231575;11297527;11331876;11474115;11709093;11733011;11941484;12009869;12029070;12052877;12082080;12372613;12388543;12470643;12477932;12481031;12519370;12577067;12605685;12612070;12665555;12665801;12679033;12835311;12874605;1331119;13680526;14565974;14576350;14597672;14684684;14694110;14760703;15009185;15163409;15231748;1540415;15489334;15618548;15746964;15759055;1602151;16101678;16130169;16169070;16179592;16189514;16236267;16263121;16289162;16300736;16365169;16502470;16526095;16569662;16690605;16773128;16824795;16901892;17043677;17088428;17203973;17220478;17285762;17360745;17361185;17411366;17504171;17573780;17643375;17693642;17722883;17914456;17955473;18443296;18775311;18781797;18804074;19008859;19059912;1907279;19110265;19477959;19548389;19596686;19638415;19639585;19710135;19883584;1991513;19946888;20147394;20301607;20381070;20391533;20473970;20618440;20639865;20706999;20797700;20876399;20946988;20972266;21139048;21150319;21151833;21163940;21252943;21378166;21382349;21502360;21800051;21890473;21900206;21906983;21908715;21917091;21923909;21963094;21987572;21988832;22004035;22053931;22178446;22266860;22268729;22366783;22465675;22505724;22535526;22536838;22623428;22623803;22640593;22751105;22847007;22855531;22863883;22989508;22990118;23017337;23071112;23246001;23260110;23277564;23294842;23506231;23575248;23750785;23798571;23811015;23862649;23874603;23875777;24239288;24284654;24457600;24583282;24639526;24762104;24816145;25027693;2837653;3015198;3335520;3472224;3510866;3737401;6686106;6865942;6893424;7820861;7849017;8228254;8399167;8416954;8612804;8617195;8630056;8661406;8761950;8892894;8941379;8997639;9153421;9199338;9245787;9288906;9362513;9535896;9808630;9841925;9971772 71 I3L1U9;I3L3I0;I3L3R2;I3L4N8;J3KT65;K7EM38;P63261 ABBA01032150;AC139149;AK291937;AK301175;AK304637;AMYH02034131;AY970363;AY970364;AY970365;AY970366;AY970367;AY970368;AY970369;AY970370;AY970371;AY970372;AY970374;AY970375;AY970376;AY970377;AY970380;AY970381;AY970382;AY970383;AY970402;AY970403;AY970404;AY970405;AY970406;AY970407;AY970408;AY970409;AY970410;AY970411;AY970412;AY970413;AY970414;AY970415;AY970416;AY970417;AY970418;AY970419;AY970420;AY970421;AY970441;AY970443;AY970444;AY970468;AY970469;AY970470;AY970471;AY970472;AY970473;AY970474;AY970475;AY970476;AY970477;AY970478;AY970483;AY970485;AY970486;AY970487;AY970488;AY970489;AY970490;AY970491;AY970492;AY970493;AY970494;AY970495;AY970496;AY970497;AY970498;AY970499;AY970500;AY970501;BC000292;BC001920;BC004223;BC007442;BC009544;BC009848;BC010417;BC010999;BC012050;BC015005;BC015695;BC015779;BC017450;BC018774;BC018861;BC023548;BC039144;BC053572;BC063495;BT019856;DB455954;EU668331;HC250969;HC311158;M16247;M19283;NG_011433;NM_001199954;NM_001614;NR_037688;X04098;XM_006722048;XM_006722049 AAA51579;AAA51580;AAH00292;AAH01920;AAH04223;AAH07442;AAH09544;AAH09848;AAH10417;AAH10999;AAH12050;AAH15005;AAH15695;AAH15779;AAH17450;AAH18774;AAH23548;AAH53572;AAV38659;AAX82173;AAX82174;AAX82175;AAX82176;AAX82177;AAX82178;AAX82179;AAX82180;AAX82181;AAX82182;AAX82183;AAX82184;AAX82185;AAX82186;AAX82189;AAX82190;AAX82191;AAX82192;AAX82211;AAX82212;AAX82213;AAX82214;AAX82215;AAX82216;AAX82217;AAX82218;AAX82219;AAX82220;AAX82221;AAX82222;AAX82223;AAX82224;AAX82225;AAX82226;AAX82227;AAX82228;AAX82229;AAX82230;AAX82250;AAX82252;AAX82253;AAX82274;AAX82275;AAX82276;AAX82277;AAX82278;AAX82279;AAX82280;AAX82281;AAX82282;AAX82283;AAX82284;AAX82289;AAX82291;AAX82292;AAX82293;AAX82294;AAX82295;AAX82296;AAX82297;AAX82298;AAX82299;AAX82300;AAX82301;AAX82302;AAX82303;AAX82304;AAX82305;AAX82306;AAX82307;ABM82300;ABW03432;ACE87025;ACE87712;ACF94484;BAF84626;BAG62762;BAG65416;CAA27723;CBJ05782;CBJ21234;NP_001186883;NP_001605;P63261;XP_006722111;XP_006722112 Hs.514581;Hs.713764 1339842;1340599;1667442;1730387;1791422;1791600;1791602;1792364;1792366;1792368;2113634;5017200;5019351;5019355;5019363;5019371;5023519;5023529;5023549;5114548 D17S1646E;D17S1806;D17S668;G06574;PMC108612P1;PMC109653P1;PMC109669P1;PMC116333P1;PMC116333P2;PMC117780P1;PMC129447P1;PMC149466P5;PMC149466P6;PMC149466P7;PMC23952P1;PMC305873P2;PMC85795P4;RH48849;SHGC-8015;UniSTS:478947 ACT;ACTG;BRWS2;DFNA20;DFNA26;HEL-176 actin, cytoplasmic 2;cytoskeletal gamma-actin;epididymis luminal protein 176;gamma-actin APPROVED protein-coding ENSG00000184009 HGNC:144 00017 102560;604717;614583 REVIEWED 1342717 ACTG1P2 actin, gamma 1 pseudogene 2 Y Y Y q11 5217516 5225609 - 19868077 19870178 - 17756197 17758298 - 12815422;9847074 74 ABBA01007791;AC007742;NG_004636 2188611 G66357 ACTGP2;ACTL2 APPROVED pseudo HGNC:147 VALIDATED 1344031 ACTGP6 actin, gamma pseudogene 6 1692956 78 HGNC:151 1342857 ACTG1P9 actin, gamma 1 pseudogene 9 6 6 6 p12.3 47725200 47726849 + 46172649 46174298 + 46204912 46206561 + 8941379 82 ABBA01050622;AL035701;AMYH02013681;D50659;NG_001069 ACTGP9 APPROVED pseudo HGNC:154 INFERRED 1351015 ACTGP8 actin, gamma pseudogene 8 1692956 80 HGNC:153 1348277 ACTL4 actin-like 4 84 HGNC:158 1351647 ACTG1P3 actin, gamma 1 pseudogene 3 20 20 20 p13 1237490 1238977 + 1141154 1142641 + 1160510 1161997 + 1298670 8941379 10978293;3748813 75 ABBA01053766;AF196978;AF196979;AL031665;AMYH02036563;D50657;NG_000842;X04224 ACTGP3;dJ545L17.4 APPROVED pseudo HGNC:148 INFERRED 1354054 ACTGP7 actin, gamma pseudogene 7 1692956 79 HGNC:152 1349352 ACTG1P4 actin, gamma 1 pseudogene 4 INTERACTS WITH paraoxon 1 1 1 p21.1 102304213 102306200 + 104112026 104114013 + 103569404 103571391 + 6480464 1692956;2458567 648740;76 Q6YL44 ABBA01045412;AC105272;AMYH02001592;AY129015;NR_024438 AAM98758 Hs.721681 1741403;5019379 GDB:181084;PMC133998P8 ACTGP4 APPROVED pseudo HGNC:149 VALIDATED 1345012 ACTL5 actin-like 5 1406950 85 HGNC:159 737318 ACTG2 actin, gamma 2, smooth muscle, enteric Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] 2 2 2 p13.1 73951347 73978043 + 74120093 74146780 + 73892966 73919653 + 1300349;1300249;6480464;8699517;7240710;8554872 704425;734924 10049817;10074138;10556093;10655297;11709093;12009869;12450213;12477932;12612070;12670476;12777385;14627618;14694110;14702039;1540415;15489334;15703204;15815621;15862967;16526095;1673027;16824795;17009076;1710027;17360745;17411366;17504171;17554369;17620599;17934296;18443296;18775311;18781797;1907279;19639585;19797053;19883584;1991513;20147394;20639865;20706999;20876399;20946988;20972266;21139048;21203488;21890473;21906983;21917091;21923909;21963094;21987572;22004035;22053931;22465675;22505724;22535526;22640593;22722757;22810585;22960657;22989508;23000965;23017337;23071112;23246001;23260110;23294842;23575248;2377475;23811015;23875777;24337657;24816145;7759108;8530021;8661406;8892894;8997639;9841925;9971772 72 B8ZZJ2;C9JFL5;F8WB63;F8WCH0;P63267 ABBA01075590;ABBA01075591;ABBA01075592;ABBA01075593;AC073046;AK124338;AK304523;AK310215;AK312955;AMYH02004083;AY970439;AY970440;BC012617;BC094877;BI850192;CH471053;CR536515;CR541794;D00654;NG_034140;NM_001199893;NM_001615;X16940 AAH12617;AAH94877;AAX82248;AAX82249;AAX88909;ABM83873;ABM87194;BAA00546;BAG35794;BAG54029;BAG65327;CAA34814;CAG38753;CAG46593;EAW99712;EAW99713;NP_001186822;NP_001606;P63267 Hs.516105 1745003;1791616;1793046;1856221;2124276;5023519;5023660;5492092 Acta1;D2S2088;GDB:592777;PMC117352P1;PMC193670P1;PMC23952P1;RH68187;STS_ADH2 ACT;ACTA3;ACTE;ACTL3;ACTSG;VSCM OTTHUMP00000160245;OTTHUMP00000202509;OTTHUMP00000203034;actin, gamma 2;actin, gamma-enteric smooth muscle;actin-like protein;alpha-actin 3;alpha-actin-3;gamma-2-actin;smooth muscle gamma actin;smooth muscle gamma-actin APPROVED protein-coding ENSG00000163017 HGNC:145 00016 102545;155310 REVIEWED 1346529 ACTL10 actin-like 10 20 20 20 q11.22 29007336 29009363 + 32254304 32256331 + 33666498 33668525 + 11780052;12477932 170487 Q5JWF8 ABBA01019224;AL121906;AMYH02036957;AW006704;BC137111;BC137114;BI832107;CH471077;NM_001024675 AAI37112;AAI37115;EAW76309;NP_001019846;Q5JWF8 Hs.592151 C20orf134;dJ63M2.2 OTTHUMP00000030657;actin-like protein 10;putative uncharacterized actin family protein C20orf134 APPROVED protein-coding ENSG00000182584 HGNC:16127 18570 VALIDATED 1603412 ACTL6A actin-like 6A This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008] 3 3 3 q26.33 177711580 177737071 + 179280708 179306193 + 179562920 179588405 + 6480464;8694154;9495920;9495926;9587760;8554872 21358755;21502417;23355908;23677776 10078207;10380635;10611965;10966108;11078522;11230166;11256614;11266125;11342225;11509179;11726552;11734557;11784859;11839798;12353638;12437990;12477932;12665591;12963728;14503849;14559996;14702039;14743216;14966270;14966289;15196461;15489334;15647280;15985610;16169070;16189514;16196087;16217013;16387653;17081983;17207965;17314511;17573780;17643375;17721549;17878219;18026119;18809673;18816825;18922472;19380743;19454010;19716452;19720835;19759913;20305087;20360068;20460684;20562864;21139048;21145461;21303910;21320693;21532573;21549307;21699904;21821000;21890473;21906983;21907836;21963094;22268729;22467210;22573825;22797925;22939629;23000965;23395444;23728344;23752268;24163370;24457600;24816145;8125298;8804307;8895581;9710619;9845365 86 C9JQT2;H7C5S0;O96019 AA256726;AB015907;AB060168;AB061315;ABBA01058530;ABBA01058531;AC090425;AC126184;AF041474;AK021756;AK098691;AK223212;AL136608;AMYH02008230;BC000949;BC001391;BC035463;BC036371;CH471052;CR533529;NM_004301;NM_177989;NM_178042 AAC94991;AAH00949;AAH01391;AAH36371;ACE86855;ACE87542;ADQ32750;BAA74577;BAB87844;BAB87848;BAD96932;BAG51043;CAB66543;CAG38560;EAW78397;EAW78398;EAW78399;EAW78400;EAW78401;NP_004292;NP_817126;NP_829888;O96019 Hs.435326 1341014;1718943;1849753;2165875 D3S3699;RH123178;SHGC-77570;STS-N29372 ACTL6;ARPN-BETA;Arp4;BAF53;BAF53A;INO80K;MGC5382;arpNbeta;hArpN beta 53 kDa BRG1-associated factor A;BAF complex 53 kDa subunit;BRG1-associated factor 53A;INO80 complex subunit K;OTTHUMP00000212444;OTTHUMP00000212445;actin-like protein 6A;actin-related protein 4;actin-related protein Baf53a APPROVED protein-coding ENSG00000136518 HGNC:24124 05389 604958 REVIEWED 1312292 ACTL7A actin-like 7A The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008] 9 9 9 q31 82123898 82125330 + 111624603 111626035 + 108862228 108863755 + 1580863;6480464 10373328;10611965;12052866;12477932;12571287;12695497;15164053;15489334;18720898;21263130;21278383;21832049;22386842 10881 Q9Y615 AB284520;ABBA01042777;AF113526;AK314981;AL359692;AMYH02021430;BC014610;CH471105;HC006760;HY010941;HY195619;NM_006687 AAD44109;AAH14610;BAF41971;BAG37480;CBH19186;EAW59026;NP_006678;Q9Y615 Hs.123530 2218178 ACTL7A__4246 OTTHUMP00000021866;actin-like 7-alpha;actin-like protein 7A;actin-like-7-alpha APPROVED protein-coding ENSG00000187003 HGNC:161 11976 604303 REVIEWED 1602092 ACTL8 actin-like 8 INVOLVED IN epithelial cell differentiation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 5-fluorouracil; vincristine 1 1 1 p36.2-p35 16475534 16479615 + 18081808 18153558 + 17755313 17827063 + 6480464;8554872 12477932;14702039;17623298;18029348;21963094;23251661 81569 Q9H568 ABBA01000287;AK057339;AL136529;AMYH02000402;AMYH02000403;BC028909;BI826094;CH471134;NM_030812;U20582 AAA62476;AAH28909;ADZ15909;BAB71434;EAW94846;NP_110439;Q9H568 Hs.2149 2130132;2136409 SHGC-35351;SHGC-74298 CT57 OTTHUMP00000002612;actin like protein;actin-like protein 8;cancer/testis antigen 57 protein-coding ENSG00000117148 HGNC:24018 11274 VALIDATED 1351133 ACTL6B actin-like 6B The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. [provided by RefSeq, Jul 2008] 7 7 7 q22 94970497 94983841 - 100240720 100254084 - 100643097 100656461 - 1580863;6480464;8694154;9495920;9587760;8554872 21358755;23355908;23677776 10380635;10611965;11726552;12368262;12437990;12477932;12565893;12690205;12853948;15489334;16169070;17207965;18029348;19460752;19913121;20628086;21832049;21900206;21906983;21963094;23222517;24816145;8804307;8889548;9799793;9847074 51412 C9JQT4;O94805 AB015906;ABBA01013193;ABBA01013194;ABBA01013195;AC099394;AF041475;AK314940;AMYH02016387;BC008582;BC020944;BM696009;CH236956;CH471091;NM_016188;XM_006716020 AAD54678;AAH20944;AAP21874;ADQ32375;BAA74576;BAG37446;EAL23823;EAW76502;EAW76503;EAW76504;EAW76505;NP_057272;O94805;XP_006716083 Hs.259831 1672273;1778806;1788602;2191691;5124560 MARC3579-3580;MARC_5081-5082:996690120:1;RH47495;RH70657;RH80704 ACTL6;BAF53B 53 kDa BRG1-associated factor B;BRG1-associated factor 53B;OTTHUMP00000216133;actin-like 6;actin-like protein 6B;actin-related protein Baf53b;arpNalpha;hArpN alpha APPROVED protein-coding ENSG00000077080 HGNC:160 12419 612458 REVIEWED 1313810 ACTL7B actin-like 7B The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008] 9 9 9 q31 82116170 82117577 - 111616868 111618275 - 108854588 108855995 - 1580863;6480464 10373328;10611965;12477932;12907721;14702039;15164053;15489334;16344560;21832049;23776197 10880 Q9Y614 AB284521;ABBA01042777;AF113527;AI150021;AK097670;AK313871;AL359692;AMYH02021430;BC033789;CH471105;DB021848;HC006762;HC044497;NM_006686 AAD44110;AAH33789;ADZ15359;BAF41972;BAG36599;BAG53508;CBH19187;CBH30578;EAW59025;NP_006677;Q9Y614 Hs.534390 2114058;2218972 AB070173;ACTL7B__4247 Tact1 OTTHUMP00000021867;actin-like 7-beta;actin-like protein 7B;actin-like-7-beta APPROVED protein-coding HGNC:162 11977 604304 REVIEWED 1602048 ACTL9 actin-like 9 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH fonofos; parathion; terbufos 19 19 19 p13.2 8627110 8628531 - 8807751 8809172 - 8697397 8698830 - 6480464;8554872 12477932;22197932;23278845 284382 Q8TC94 ABBA01016837;AC093230;AC243312;AI798166;AK292258;AMYH02035446;AY248901;BC024028;BC045752;HC007146;HC044569;HY011370;HY042660;NM_178525 AAH24028;AAH45752;AAP20052;BAF84947;CBH19378;CBH30614;NP_848620;Q8TC94 Hs.209206 HSD21;MGC33407 actin-like protein 9 protein-coding ENSG00000181786 HGNC:28494 14562 VALIDATED 6484054 ACTN4P1 actinin, alpha 4 pseudogene 1 4 4 4 q26 114811282 114812729 + 117519317 117520764 + 116598161 116599608 + 344978 ABBA01063863;AC106892;AMYH02009973;NG_022074 1710574;1851526;2129442 G01876;G34288;SHGC-82390 pseudo HGNC:44028 INFERRED 6483968 ACTN4P2 actinin, alpha 4 pseudogene 2 1 1 1 p34.3 36509945 36523016 + 38232107 38245184 + 37766435 37779512 + 20125193 391026 ABBA01023266;ABBA01023267;ABBA01023268;AC104336;AL929472;AMYH02000802 1336566 D1S186 pseudo HGNC:44032 MODEL 734136 ACTN3 actinin, alpha 3 This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014] 11 11 11 q13.1 63634667 63651076 + 66314312 66330799 + 66546841 66563328 + 1298582;1580863;6480464;6907045;8554872 1339456 10192379;10656685;11171996;11309420;11440986;12477932;12692149;12837758;12879365;15221860;15489334;15718405;15808860;15817725;15841212;15886711;1629252;16612741;16807302;17033684;17339648;17468578;17550918;17560787;17627799;17630210;17848603;17879893;17986906;18043716;18470530;18637739;18651373;18676575;18687124;18718976;18756004;18801770;19016781;19038838;19150855;19237423;19405879;19422651;19544227;19696509;19807896;19913121;20005538;20010124;20013558;20044471;20044476;20069311;20089531;20148371;20222007;20459474;20561285;20628086;20699471;20734058;20830656;20845221;20936592;20952631;20966103;21072744;21299892;21407828;21472630;21491997;21542061;21784188;21842214;21890473;21926972;21930675;21933355;21956137;22045415;22117592;22224919;22247001;22253474;22639897;22648472;22855367;22868563;22891846;22916217;22983821;22996021;23000965;23092649;23145141;23190598;23348074;23358679;23359641;23522773;23539075;23676962;23681449;23689106;23868678;24058088;24091322;24114905;24313907;8104223;9675099 89 B4DZQ2;D6RH00;Q08043;Q4VAM3 ABBA01024074;AJ346025;AK125851;AK303044;AK313556;AL043389;AMYH02024979;AP002748;BC096323;BC099647;BC099648;BC099649;BQ575174;BU732652;CH471076;CX787471;DA827389;DA915904;M86407;NG_013304;NM_001104;NM_001258371;NR_047663 AAA51585;AAH96323;AAH99647;AAH99648;AAH99649;BAG36331;BAG64164;EAW74546;NP_001095;NP_001245300;Q08043 Hs.654432;Hs.737862 1712324;1742493;1769819;2161911;2171229;2172980 ACTN3;G54071;GDB:197568;RH47283;STS-M86407;STS-W72567 MGC117002;MGC117005 F-actin cross-linking protein;OTTHUMP00000219049;OTTHUMP00000219054;actinin alpha 3;alpha-actinin skeletal muscle;alpha-actinin-3 APPROVED protein-coding ENSG00000248746 HGNC:165 02148 102574 REVIEWED 1350885 ACTN1-AS1 ACTN1 antisense RNA 1 14 14 q24.1 69446399 69454180 + 68979682 68987463 + 16344560 161159 ABBA01023682;AL117694;AMYH02029428;DB029126;HG506332;NR_073422 Hs.603341 C14orf84 ACTN1 antisense RNA 1 (non-protein coding) APPROVED ncrna ENSG00000259062 HGNC:20131 VALIDATED 736411 ACTN1 actinin, alpha 1 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q24 49401716 49506993 - 69340840 69446083 - 68874123 68979366 - 1298684;1300350;1580863;6480464;6484113;6907045;8699517;8554872;7240710 2349951;734925 10029173;10198040;10224105;10369880;10470015;10753915;10793131;10801846;10833443;10926853;11110697;11113628;11114196;11305911;11369769;11423549;11470434;11573089;11724819;11739652;11802708;11842093;11846417;11854440;11972044;11973348;12023963;12202484;12211109;12223541;12446711;12477932;12493766;12499399;12507293;12615977;12628297;12642359;12665801;12695497;12837758;14581471;14623081;14630798;14702039;15070900;15123239;15147863;15159419;15489334;15576338;15604093;15710624;15988023;16009940;16097034;16125169;16189514;16190873;16195373;16263121;16291744;1629252;16396496;16430917;16464232;16502470;16713569;16807302;16820411;16944923;16951376;17081983;17082780;17115122;1720388;17311919;17525629;17898132;17944866;17965186;17974975;18029348;18341635;18353764;18408146;18519573;18560563;18978946;18985028;19056867;19094982;19247474;19380743;19596686;19715605;19750481;19805454;1991513;20037648;20156433;20391533;20634891;20811636;20936779;21078624;21080425;21139048;21163940;2116421;21182205;21319273;21408150;21474972;2169343;21890473;21906983;21963094;21987572;21988832;22178446;22304920;22586326;22659138;22689882;22863883;22939629;23000965;23077236;23132927;23139387;23383273;23434115;23454549;23463506;23535732;23557398;23664615;23862649;23969696;24024966;24069336;24457600;24583282;24816145;25027693;25036637;2777757;2780298;7750553;7790378;7829101;7908020;7983147;8125298;8713105;8997639;9030526;9501083;9535896;9599291 87 G3V2E8;G3V2N5;G3V2W4;G3V2X9;G3V380;G3V5M4;H0YJ11;H0YJW3;H7C5W8;H9KV75;P12814 ABBA01023682;ABBA01023683;AJ844628;AK098203;AK124378;AK225782;AK294317;AK295099;AK298496;AK299362;AL117694;AMYH02029427;AMYH02029428;BC003576;BC004984;BC015766;BC127124;BI494856;BT007207;BX248020;BX641076;CH471061;DC321454;DC372566;DQ496098;EU716325;FJ410030;M95178;NG_029480;NM_001102;NM_001130004;NM_001130005;X15804;X55187 AAA51582;AAH03576;AAH15766;AAI27125;AAP35871;ABF50047;ABM81704;ABM86694;ACE62922;ACJ24535;BAG53591;BAG57591;BAG58135;BAG61357;BAH12801;CAA33803;CAA38970;CAD62344;CAH59747;EAW80971;EAW80972;EAW80973;EAW80974;EAW80975;EAW80976;NP_001093;NP_001123476;NP_001123477;P12814 Hs.509765 1665007;1684832;2131046;2132750;2155524;2160301;2160998;2186313;2191375;5014404;5022200;5022450;5024593;5491218 Actn1;D10S275;D14S1222;D14S1312;D14S931;D14S939;ECD17402;L18426;MARC_17931-17932:1024341335:5;RH48588;RH67009;RH93083;SHGC-58252;STS-D29544 BDPLT15;FLJ40884;FLJ54432 F-actin cross-linking protein;OTTHUMP00000245940;OTTHUMP00000245941;OTTHUMP00000245942;OTTHUMP00000245943;OTTHUMP00000245944;actinin 1 smooth muscle;alpha-actinin 1;alpha-actinin cytoskeletal isoform;alpha-actinin-1;non-muscle alpha-actinin-1 APPROVED protein-coding ENSG00000072110 HGNC:163 00020 102575;615193 REVIEWED 1317671 ACTN2 actinin, alpha 2 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] 1 1 1 q42-q43 210097994 210176743 + 236849754 236927931 + 236686454 236764631 + 1298582;1559161;1559162;1559160;1580863;6480464;6907045;7240710;8554872;8699517 11440986;1339456;14567970;9009191 10373510;10391924;10427098;10548523;10656685;10788519;10812072;10861853;10931874;10984498;11101506;11114196;11171996;11309420;11389904;11699871;11724819;11842093;11846417;12006649;12140183;12356918;12358155;12435606;12446711;12477932;12559088;12809483;12812986;12815021;12837758;12860415;14565974;14622581;14630798;1505962;15072553;15123239;15489334;15489953;15576338;15604093;15737636;15841212;15843396;16120608;16169070;1629252;16712791;16713569;16807302;16902413;17110593;17944866;18029348;18513529;18687124;19086053;19150855;19696509;19815520;19932097;20022194;20201926;20301486;20301725;20379614;20398908;20474083;20554076;20618440;21078624;21163940;21890473;21906983;21963094;21987572;21988832;22079093;22081385;22178446;22253474;22427672;22939629;22972877;23000965;23463506;24024966;24654937;8104223;8609175;8615909;8665664;9030526;9481670;9501083;9675099;9728925;9817758;9952395 88 B7Z4P8;P35609;Q59FD9 AB209521;ABBA01033173;AJ249756;AJ249757;AJ249758;AJ249759;AJ249760;AJ249761;AJ249762;AJ249763;AJ249764;AJ249765;AJ249766;AJ249767;AJ249768;AJ249769;AJ249770;AJ249771;AJ249772;AJ249773;AJ249774;AJ249775;AJ249776;AK294906;AK297469;AK297618;AK297628;AK297886;AK315250;AL359185;AL359921;AMYH02002973;AMYH02002974;BC047901;BC051770;BX103017;CB153006;CH471098;DC378038;M86406;M86804;NG_009081;NM_001103;NM_001278343;NM_001278344 AAA51583;AAA51584;AAH47901;AAH51770;BAD92758;BAG37672;BAH11921;BAH12587;BAH12632;BAH12634;BAH12687;CAB61269;EAW70064;EAW70065;NP_001094;NP_001265272;NP_001265273;P35609 Hs.498178 1734422;1742171;1776434;1849520;2110241;2113650;2127122;2158573;2162749;5109773;5117194 ACTN2;ACTN2_4196;AL009965;D1S1759E;D1S2059E;D1S2925;G31538;GDB:192954;GDB:451691;SHGC-12727;SHGC-76572 CMD1AA F-actin cross-linking protein;OTTHUMP00000037963;alpha-actinin skeletal muscle;alpha-actinin-2 APPROVED protein-coding ENSG00000077522 HGNC:164 00019 102573;612158 REVIEWED 1315176 ACTR10 actin-related protein 10 homolog (S. cerevisiae) INVOLVED IN microtubule-based movement (inferred); FOUND IN cytoplasm (inferred); dynactin complex (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; methyl methanesulfonate 14 14 14 q23.1 38716785 38752305 + 58666833 58702354 + 58200115 58235636 + 1580863;6480464 12477932;12857853;14702039;15489334;16341674;16712791;20360068;21139048;21906983;22053931;22863883;22939629;23000965;8125298 55860 F6S9Y6;G3V2Q5;G3V4K6;G3V524;G3V5Y4;H0YJD9;H0YJE8;Q9NZ32;V9GYX7 ABBA01018251;ABBA01018252;ABBA01018253;AF220190;AK000544;AK022248;AK022534;AK222624;AK222702;AK315537;AL121579;AL132989;AMYH02029271;AMYH02029272;AMYH02029273;BC005208;BC011997;BM750953;BX161491;BX248282;CB135721;CH471061;NM_018477 AAF67655;AAH05208;AAH11997;ABM82220;ABM85404;BAA91243;BAB14083;BAD96344;BAD96422;BAG37916;CAD61940;CAD62610;EAW80714;NP_060947;Q9NZ32 Hs.509451 1652371;1676198;1783006;2121160;2121162 A005R28;D14S774;G20444;RH91710;SHGC-111380 ACTR11;Arp11;HARP11 OTTHUMP00000244964;actin-related protein 10;actin-related protein 11 protein-coding ENSG00000131966 HGNC:17372 12420 VALIDATED 735302 ACTN4 actinin, alpha 4 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008] 19 19 19 q13 35940352 36023163 + 39138256 39221336 + 38647616 38730531 + 1598731;1300349;1580863;6480464;6484113;6907045;7240710;8554872;8699517 10700177;734924 10556093;10656685;10673389;10753915;10915794;11160423;11358829;11382784;11707406;11724819;11733011;11739652;11882289;11948184;12042308;12093915;12202484;12411747;12477932;12617336;12837758;12960352;14630798;15048094;15070900;15152255;15342556;15489334;15493875;15588985;15592455;15619032;15772161;15780077;15841212;16009940;1602151;16189514;16196087;16204054;16212417;16251236;1629252;16341674;16344560;16396496;16502470;16713569;16751776;16807302;16944923;16951376;16980305;17018644;17289661;17370265;17438131;17873890;17901210;17955473;17968527;18029348;18164029;18180332;18215660;18362906;18436095;18552466;18726620;18765526;18781797;19142020;19151661;19199708;19322201;19357256;19380743;19447967;19666657;19672209;19738201;19805454;19913121;19913389;19920151;19956976;20037648;20156433;20197409;20201926;20391533;20448150;20519146;20628086;20819441;20936779;21078624;21078666;21081666;21139048;21163940;2116421;21234524;21408150;21655212;21680739;21800051;21890413;21890473;21906983;21963094;21987572;21988832;22079093;22178446;22252987;22348389;22351778;22370640;22567897;22586326;22623428;22797925;22825873;22863883;22908231;22939629;22965004;23000411;23000965;23085994;23182705;23326349;23454549;23463506;23466492;23482348;23557398;23583979;23689571;23711888;23793025;23810014;23817592;23862649;23890478;23899839;24250222;24583282;24654937;24802111;24816145;24922688;25027693;8104223;9461087;9508771 81 F5GXS2;H7C144;K7EJH8;K7EP19;O43707 AA478431;AA847056;ABBA01040690;ABBA01040691;ABBA01040692;AC008649;AC022144;AK299955;AK304554;AK309361;AK309363;AK309364;AMYH02036076;AMYH02036077;AMYH02036078;AU118403;BC005033;BC015620;BM841805;BP332596;BX647098;CH471126;D89980;DQ431186;GU987085;NG_007082;NM_004924;U48734;XM_005259281;XM_005259282;XM_006723406 AAC17470;AAH05033;AAH15620;ABD96103;ABM84365;ABM87776;ADG03678;BAA24447;BAG61782;BAG65349;EAW56809;EAW56810;EAW56811;NP_004915;O43707;XP_005259338;XP_005259339;XP_006723469 Hs.270291 1331580;1341564;1653166;1761859;1761991;1777220;1854288;2142134;2153714;2180935;2190983;5108403;5491216 A008Q24;Actn4;D19S1071;D19S422;D19S589;D4S439E;MARC_12245-12246:1008698037:1;RH16012;RH35900;SHGC-145808;SHGC-145914;SHGC-16522;WI-17325 ACTININ-4;DKFZp686K23158;FSGS;FSGS1 F-actin cross-linking protein;OTTHUMP00000174445;actinin alpha 4;actinin alpha4 isoform;alpha-actinin-4;focal segmental glomerulosclerosis 1;non-muscle alpha-actinin 4 APPROVED protein-coding HGNC:166 05222 603278;604638 REVIEWED 3004191 ACTR3BP1 ACTR3B pseudogene 1 Y Y Y q11.21 921 2529 - 13551549 13553192 + 11395873 11397516 + 9847074 643050 ABBA01032196;AC134879;NG_005799 APPROVED pseudo HGNC:37724 INFERRED 1603621 ACTR3B ARP3 actin-related protein 3 homolog B (yeast) This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 7 7 7 q36.1 148258695 148259790 + 152456834 152552464 + 152759749 152887714 + 6480464;8554872 10047519;10806390;11162478;12477932;12853948;12857853;14651955;14702039;15176487;16169070;17353931;20379614;21963094;21988832;23251661;23398456 57180 Q59GD5;Q9P1U1 AA559050;AB209174;ABBA01035089;ABBA01035090;ABBA01035091;ABBA01035107;ABBA01035108;ABBA01035109;ABBA01035110;ABBA01035111;ABBA01035112;AC072057;AC092180;AF023453;AF086920;AK001198;AK294292;AK315534;AK316078;AMYH02017103;AMYH02017104;AMYH02017105;BC008682;BC015207;CH471209;DB570472;DN601600;NM_001040135;NM_020445;NR_073000;NR_073001;XM_006716064;XM_006716065;XM_006716066;XM_006716067;XM_006716068 AAC98904;AAH08682;AAH15207;AAP97150;AAS07430;ABM85680;ABW03746;BAD92411;BAG37914;BAG50867;BAG57575;BAH14449;EAW80446;NP_001035225;NP_065178;Q9P1U1;XP_006716127;XP_006716128;XP_006716129;XP_006716130;XP_006716131 Hs.647117 1758171;2142725;2155343;2156224;2156333;2158419;2173746;2181199;2187705;2187707;5014029;5022463;5022578 D13S1639;D1S1423;D3S1673;D7S1390;D7S3198;D7S3199;GDB:1318002;GDB:1318182;RH78488;SHGC-147571;SHGC-30943;STS-W68401;WI-14223 ARP11;ARP3BETA;DKFZp686O24114 ARP3-beta;OTTHUMP00000200055;OTTHUMP00000200076;OTTHUMP00000200077;actin-like protein 3B;actin-related protein 3-beta;actin-related protein 3B;actin-related protein ARP4;actin-related protein Arp11 APPROVED protein-coding ENSG00000133627 HGNC:17256 12489 REVIEWED 1321952 ACTR2 ARP2 actin-related protein 2 homolog (yeast) The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p14 65301566 65345120 + 65454829 65498387 + 65227695 65271253 + 631743;6480464;6484113 9230079 10381382;10421578;10524632;10563804;10781580;10880444;11018051;11052943;11146629;11706047;11721045;11741539;12019562;12036877;12176354;12200375;12429845;12464680;12468383;12473693;12477932;12515716;12534372;12672817;12732638;12791263;12872157;15146197;15242766;15247266;15385624;15469433;15489334;15741236;15834156;16004967;16196087;16253999;16403731;16638851;17085436;17353931;17459058;17501982;18516090;18720401;18781797;19056867;19262673;19286135;19322201;19641626;19738201;19913427;19946888;20308691;20404198;20876399;21108927;21139048;21145461;21182205;21890473;21906983;21963094;21987572;21988832;22053931;22100162;22118674;22125478;22505724;22586326;22797925;22863883;22939629;23000965;23051739;23077236;23212915;24344184;24469447;24816145;24872192;25015289;25027693;9000076;9210376;9359840;9889097 10097 F5H6T1;P61160 ABBA01075438;AC007318;AF006082;AK295157;AK301634;AK315205;AL049356;AMYH02003978;AMYH02003979;BC014546;BC036253;BI670123;BQ425220;BQ684301;BU184246;BX491447;BX649080;CH471053;CN291246;DC404298;NM_001005386;NM_005722;W15444 AAB64187;AAH14546;AAH36253;ACE86733;ACE87419;BAG37642;BAG58171;BAG63117;EAW99908;EAW99909;EAW99910;EAW99911;EAW99912;EAW99913;EAW99914;NP_001005386;NP_005713;P61160 Hs.643727;Hs.744913 1681131;1682293;1705140;2134323;2134325;5096169 A005P05;G20390;RH27241;RH38846;SHGC-31132;SHGC-80003 ARP2 OTTHUMP00000159937;OTTHUMP00000202270;actin-like protein 2;actin-related protein 2 APPROVED protein-coding ENSG00000138071 HGNC:169 05023 604221 REVIEWED 1316546 ACTR1B ARP1 actin-related protein 1 homolog B, centractin beta (yeast) This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008] 2 2 2 q11.1-q11.2 92476403 92484541 - 98272402 98280561 - 97655939 97664098 - 1580863;6480464;8554872 10343100;11256614;12477932;12857853;15489334;15815621;16169070;17619203;19946888;19996280;20360068;21139048;21145461;21832049;21900206;21906983;22863883;22939629;7696711;9436979 10120 P42025 ABBA01073975;AC017099;AMYH02004375;BC004374;BC006372;BC010090;BC025274;CH471127;NM_005735;X82207;X82208;XM_005263854 AAH04374;AAH06372;AAH10090;AAY24280;ABM84364;ABM87747;CAA57691;CAA57692;EAX01923;EAX01924;EAX01925;EAX01926;EAX01927;EAX01928;NP_005726;P42025;XP_005263911 Hs.98791 1699680;1721481;2135297;2187243 G59594;RH103445;WI-13619;WI-19134 ARP1B;CTRN2;PC3 OTTHUMP00000161110;actin-related protein 1B;beta-centractin;centractin beta APPROVED protein-coding ENSG00000115073 HGNC:168 05508 605144 REVIEWED 1315973 ACTR1A ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008] 10 10 10 q24.32 97979888 98003421 - 104238986 104262580 - 102479229 102502755 - 6480464;8554872 10074429;10196146;10504299;10607828;10671377;10671518;11076863;11076968;11256614;11357136;11461920;11483508;12221128;12477932;12852856;12857853;12871323;1356230;14702039;15164054;1528266;15489334;15489336;16196087;16381901;16462731;18303113;19056867;19737819;20360068;21110914;21139048;21145461;21890473;21906983;21963094;22863883;22939629;23000965;23184937;23535732;24250222;24816145;25027693;7518465;7696711;7790358;7878030;8991093;9499420 10121 AAB23391;B4DXP9;P61163;R4GMT0 ABBA01063151;ABBA01063152;ABBA01063153;AK096085;AK297362;AK297620;AK302072;AK312506;AL121928;AMYH02023697;BC000693;BC026016;CH471066;DC384284;NG_011901;NM_005736;X82206;Z14978 AAB23391;AAH00693;AAH26016;ABM83615;ABM86860;BAG35407;BAG59809;BAG59996;BAG63461;CAA57690;CAA78701;CAL38013;EAW49685;EAW49686;EAW49687;EAW49688;NP_005727;P61163 Hs.153961 1667693;1688941;1712184;1744313;1761207;1770808 G54143;GDB:451658;RH47050;SHGC-145218;SHGC-57449;WI-22078 ARP1;CTRN1;FLJ52695;FLJ52800;FLJ55002 OTTHUMP00000020366;actin-RPV;alpha-centractin;centractin;centrosome-associated actin homolog APPROVED protein-coding ENSG00000138107 HGNC:167 05507 605143 REVIEWED 736322 ACTR3 ARP3 actin-related protein 3 homolog (yeast) The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013] 2 2 2 q14.1 107963979 108036693 + 114647511 114719131 + 113889934 113961554 + 631743;6480464;6484113;8554872 9230079 10381382;10421578;10524632;10563804;10781580;10806390;11018051;11052943;11146629;11231575;11721045;11741539;11790298;11882288;12036877;12176354;12176742;12200375;12429845;12464680;12473693;12477932;12534372;12672817;12732638;12791263;12829704;12872157;15242766;15247266;15279900;15385624;15469433;15489334;15592455;15635413;15741236;16004967;16253999;16403731;17085436;17353931;17501982;17524364;17576929;18516090;18781797;19056867;19262673;19286135;19738201;19913427;19946888;20195357;20308691;20360068;20404198;20585556;20603326;20876399;20974812;21108927;21139048;21182205;21890473;21906983;21963094;22053931;22100162;22145905;22261722;22505724;22586326;22797925;22863883;22939629;23000965;23051739;23166591;23320827;24058526;24344184;24469447;24816145;24872192;25027693;9000076;9210376;9359840;9860974;9889097 10096 B4DXW1;F8WDR7;F8WE84;F8WEW2;P61158 AB209353;ABBA01045977;ABBA01045978;AC110769;AF006083;AF127773;AI521063;AK300030;AK300224;AK302152;AK302359;AK303988;AK312659;AK316213;AK316396;AL832773;AMYH02004603;AMYH02004604;BC044590;CH471103;DB453995;NM_001277140;NM_005721;NR_102318 AAB64188;AAD51904;AAH44590;AAX93226;BAD92590;BAG35542;BAG61841;BAG61992;BAG63523;BAG63684;BAG64905;BAH14584;BAH14767;EAW95179;EAW95180;EAW95181;EAW95182;NP_001264069;NP_005712;P61158 Hs.433512;Hs.595349 1670847;1772905;1774732;2171464 D2S2582;RH68378;WI-12604;WI-20350 ARP3 OTTHUMP00000203980;actin-like protein 3;actin-related protein 3;actin-related protein 3 homolog (yeast) APPROVED protein-coding ENSG00000115091 HGNC:170 05024 604222 REVIEWED 4108510 ACTR3BP2 ACTR3B pseudogene 2 2 2 2 p11.1 66414 67751 - 92129159 92130496 + 91941133 91942470 + 440888 Q9BWW1 ABBA01048753;AC128677;AMYH02004287;AY026351;CH471366;NR_027714 AAK31777;EAW50837;EAW50838 Hs.730239 5094658 PMC310890P1 FKSG73 APPROVED pseudo HGNC:38677 VALIDATED 4108537 ACTR3BP3 ACTR3B pseudogene 3 16 16 p11.2 32389949 32391590 - 32378627 32380268 - 647156 Q9BWW0 ABBA01002154;AC138915;AMYH02031863;CH471357;NG_005800 EAW51523 APPROVED pseudo HGNC:38678 INFERRED 4109585 ACTR3BP5 ACTR3B pseudogene 5 10 10 10 p11.1 216453 217726 - 38989727 38991372 + 38696596 38698241 + 399746 ABBA01003903;AL133173;AMYH02022672;AY026352;NR_045000 AAK31778 Hs.742607 5094658 PMC310890P1 FKSG74 APPROVED pseudo HGNC:38682 VALIDATED 4109092 ACTR3BP6 ACTR3B pseudogene 6 22 22 22 q11.1 66402 68043 - 16967583 16969226 + 16486693 16488336 + 644773 Q9BWW2 AC137499;AMYH02037976;AP000546;AP000547;AY026350;NG_005801 AAK31776 APPROVED pseudo HGNC:38683 INFERRED 4109091 ACTR3BP4 ACTR3B pseudogene 4 4 4 4 q24 101180392 101182025 + 103883285 103884928 + 102962129 102963771 + 9847074 777774 ABBA01063705;AC083826;AMYH02009821;NG_005802;NG_008662 APPROVED pseudo HGNC:38681 INFERRED 4108897 ACTR3P2 ACTR3 pseudogene 2 X X X q13.1 68344091 68345347 + 67991165 67992421 + 68771322 68772578 + 100129013 ABBA01067385;AL353587;AMYH02039646;NG_022669 APPROVED pseudo HGNC:38676 INFERRED 2923209 ACTR3C ARP3 actin-related protein 3 homolog C (yeast) ENCODES a protein that exhibits actin binding (inferred); ATP binding (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH cyclosporin A; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 q36.1 147954920 147965656 + 149944301 150020758 - 150247212 150323714 - 6480464 11162478;14651955;16344560;8889548 653857 C9IZN3;C9J580;H7C4J1;Q9C0K3 AB039791;ABBA01035192;ABBA01035193;ABBA01035194;ABBA01035195;ABBA01035196;AC005586;AC006008;AK130039;AMYH02017057;BM674900;BX640643;DA868104;DN992136;DR004860;NM_001164458;NM_001164459;XM_005250043 BAB21501;BAC85283;CAI56711;NP_001157930;NP_001157931;Q9C0K3;XP_005250100 Hs.664579 1758171;1856543;2142725;2158419;2187705;5037552 D7S3198;D8S2279;GDB:1318002;GDB:1318182;GDB:4585543;SHGC-147571 ARP11 OTTHUMP00000212791;actin-related Arp11;actin-related protein 11;actin-related protein 3C protein-coding ENSG00000106526 HGNC:37282 VALIDATED 4109173 ACTR3P3 ACTR3 pseudogene 3 3 3 3 q12.2 99273655 99274600 + 100881938 100882883 + 101163094 101164039 + 100128020 ABBA01061779;AC093008;AMYH02007312;NG_022261 APPROVED pseudo HGNC:38679 INFERRED 1343118 ACTR3P1 ACTR3 pseudogene 1 14 14 14 q11.2 1915758 1918332 - 22053413 22054404 - 21585289 21586280 - 100288580 ABBA01061261;AC243972;AE000521;NG_023029 APPROVED pseudo HGNC:31820 INFERRED 6771192 ACTR6P1 ACTR6 pseudogene 1 4 4 4 105056690 105057760 - 107757658 107758728 - 106836501 106837571 - 100421495 ABBA01063745;AC104829;AMYH02009864;NG_025147 APPROVED pseudo HGNC:44210 INFERRED 1317453 ACTR5 ARP5 actin-related protein 5 homolog (yeast) INVOLVED IN double-strand break repair; UV-damage excision repair; PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN cytoplasm; Ino80 complex; nucleus; INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; aflatoxin B1 (ortholog) 20 20 20 q11.23 34087821 34111793 + 37376933 37401089 + 38748294 38772446 + 6480464;9495926 21502417 11780052;12477932;12601173;14702039;15489334;16230350;17643375;17721549;18026119;18163988;18922472;19014934;20197409;20855601;21303910;21900206;21906983;22939629;24163370;24567363 79913 Q9H9F9 ABBA01052531;ABBA01052532;AK022847;AL133519;AMYH02037062;AY211911;BC001324;BC006162;BC038402;BF529768;CH471077;NM_024855;XM_005260554;XM_005260555;XM_005260556;XM_005260557 AAH01324;AAH06162;AAH38402;AAO65164;BAB14270;EAW76010;EAW76011;NP_079131;Q9H9F9;XP_005260611;XP_005260612;XP_005260613;XP_005260614 Hs.371585 1750857;2174373 RH65503;SHGC-104591 Arp5;FLJ12785;INO80M;hARP5 INO80 complex subunit M;OTTHUMP00000030976;actin-related protein 5;sarcoma antigen NY-SAR-16 protein-coding ENSG00000101442 HGNC:14671 08575 VALIDATED 1312146 ACTR6 ARP6 actin-related protein 6 homolog (yeast) PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN cytoplasm (inferred); cytoskeleton (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; cobalt dichloride; hydrogen peroxide 12 12 12 q23.1 100259848 100283475 + 100593865 100618202 + 100200087 100224424 + 737633;1580863;6480464;9495926 12477932;21502417 11368909;14702039;15489334;15647280;16344560;16487625;17207965;17643375;20473270;21890473;21906983;22467210;8125298 64431 F8VP72;F8VRL1;F8VSD1;F8W043;F8W057;F8W0Q1;G3V1Y1;Q9GZN1 AB038229;ABBA01053261;ABBA01053262;ABBA01053263;AC010203;AC026110;AC253559;AF161399;AF175226;AF212251;AK023495;AK023684;AK124075;AK222959;AK296991;AMYH02027054;AMYH02027055;AMYH02027056;BC015107;BC042997;BC050679;CH471054;DB022992;NM_022496;NR_048568;NR_048569 AAF28959;AAH15107;AAK14934;AAQ13651;ADQ31805;BAB14588;BAB14640;BAB20762;BAD96679;BAG53999;BAG59531;EAW97623;EAW97624;EAW97625;EAW97626;EAW97627;NP_071941;Q9GZN1 Hs.115088 1340032;1650044;2150690;5015961;5037552 D12S1588;D12S2127;D12S2146;D15S1477;D8S2279 ARP6;CDA12;FLJ13433;HSPC281;MSTP136;hARP6;hARPX OTTHUMP00000243341;OTTHUMP00000243343;OTTHUMP00000243347;OTTHUMP00000243348;actin-related protein 6 protein-coding ENSG00000075089 HGNC:24025 12421 VALIDATED 1323563 ACTR8 ARP8 actin-related protein 8 homolog (yeast) ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN chromatin remodeling (inferred); DNA recombination (inferred); DNA repair (inferred); PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN Ino80 complex; nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 3 3 3 53868375 53883507 - 53898959 53916229 - 53865016 53882202 - 1580863;6480464;9495926 21502417 12477932;14702039;15188402;16230350;16344560;17081983;17643375;17721549;18026119;18163988;18922472;20971067;21048031;21303910;21906983;22210892;22939629;22977180;23000965;24144296;24250222;24816145 93973 C9J7L6;H0Y849;Q9H981 ABBA01024471;AC012467;AK022996;AK026232;AK094507;AMYH02006831;BC032744;BU070174;BX354684;CH471055;DA453867;NM_022899;XM_005265587;XM_006713419 AAH32744;BAB14352;BAB15402;BAG52879;EAW65300;NP_075050;Q9H981;XP_005265644;XP_006713482 Hs.412186 1683269;1699606;1706472;5126793 RH103404;RH99050;SHGC-81122;WI-14906 ARP8;FLJ12934;FLJ22579;INO80N;hArp8 INO80 complex subunit N;OTTHUMP00000212735;OTTHUMP00000213228;actin-related protein 8 protein-coding ENSG00000113812 HGNC:14672 09792 VALIDATED 1606455 ACTRT2 actin-related protein T2 The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008] 1 1 1 p36.32 2136394 2137815 + 2938046 2939467 + 3021482 3022903 + 6480464;8554872 11750065;12243744;12477932;15342556;15489334;18029348 140625 Q8TDY3;Q96LK1 AB057364;ABBA01073669;AF440740;AK058153;AK314500;AL356984;AMYH02000132;AW016204;BC029499;BI825639;BP370015;CH471248;HC006780;NM_080431 AAH29499;AAM00433;ABM82186;ABM85372;BAB71690;BAB85862;BAG37100;CBH19196;EAW61142;NP_536356;Q8TDY3 Hs.236635 ARPM2;ARPT2;Arp-T2;FLJ25424;HARPM2 OTTHUMP00000000569;actin-related protein M2;actin-related protein hArpM2 APPROVED protein-coding ENSG00000169717 HGNC:24026 12254 608535 REVIEWED 1605289 ACTRT1 actin-related protein T1 This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010] X X X q25 127568642 127570083 - 127184941 127186382 - 128050962 128052403 - 6480464;8554872 12243744;12477932;15489334;15772651 139741 Q8TDG2 ABBA01047641;AF440739;AMYH02040449;AY251532;BC014597;CH471107;DB452140;DB510229;NG_021358;NM_138289;Z74696 AAH14597;AAM00432;AAP20055;ACE86838;ACE87525;EAX11839;NP_612146;Q8TDG2 Hs.680125 AIP1;ARIP1;ARP-T1;ARPT1;HSD27;KIAA0705;MGC26590 OTTHUMP00000023981 APPROVED protein-coding ENSG00000123165 HGNC:24027 06439 300487 REVIEWED 1349804 ACVR1B activin A receptor, type IB This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] 12 12 12 q13 51147747 51193153 + 52345451 52390863 + 51951667 51997079 + 1598735;1580888;1580863;1559169;2317217;6480464;8554872 11248065;12770730;14993131;9714055 10652306;11117535;11266516;11278302;11279102;11356828;11389842;11909953;11969340;12023024;12032389;12065756;12112843;12364468;12477932;12639945;12651901;12665502;12857866;12919325;14517293;15123686;15196700;15459392;15489334;15611116;15908921;16720724;17906079;18039968;19035567;19322201;19758997;19953087;20226172;20347265;20379614;20596523;20663871;20734064;20819778;21063444;21377836;21791611;21988832;22267736;22939624;23010638;23159635;23211491;23263486;7791754;7890768;8058741;8196624;8397373;8612709;8622651;9032295;9202237;9501322;9738003;9884026;9892009 91 F5H5Q2;P36896 ABBA01031621;ABBA01031622;AC025259;AK299120;AK299496;AL117643;AMYH02026495;BC000254;BC034008;BC040531;BT007072;CH471111;L10125;L10126;L31848;NG_022926;NM_004302;NM_020327;NM_020328;U14722;XM_006719685;Z22536 AAA50246;AAA53349;AAA53350;AAA53351;AAA60555;AAA60556;AAH00254;AAH40531;AAP35735;ACE86741;ACE87427;BAH12954;BAH13051;CAA80258;EAW58216;EAW58217;EAW58218;NP_004293;NP_064732;NP_064733;P36896;XP_006719748 Hs.438918 1694492;1720981;1747709;1747711;1748361;1795286;2134191;2162040;2174779 A003N21;ACVR1B_689;G42984;G59320;G64251;G64263;G64264;GDB:679112;RH69000 ACVRLK4;ALK4;SKR2 ACTRIB;OTTHUMP00000237285;OTTHUMP00000237286;OTTHUMP00000237287;OTTHUMP00000237289;OTTHUMP00000241624;activin A receptor, type II-like kinase 4;activin receptor type-1B;activin receptor-like kinase 4;serine/threonine-protein kinase receptor R2 APPROVED protein-coding ENSG00000135503 HGNC:172 03193 601300 REVIEWED 737613 ACVR2B activin A receptor, type IIB Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008] 3 3 3 p22 38431705 38470515 + 38495790 38534633 + 38454299 38493142 + 1300351;1580863;1559169;6480464;6907045;7240710;8699517;8554872 12770730;734934 10212081;10391213;10504300;10702675;10766733;11094085;11266516;11278302;11279102;11306176;11459935;11882656;11969340;12477932;12493773;12651901;12782414;14517293;14738881;15064755;15123239;15123686;15304227;15342556;15451561;15489334;15611116;15621726;16845371;17347381;17356069;17893364;18436533;19453261;19903896;20424473;20466801;20663871;20734064;21353874;21864452;22296042;22395277;22431721;22718755;22939624;8161782;8242742;8612709;8622651;8702914;9202237;9621519;9748228;9872992;9916847 93 Q13705;Q71UM3 AB008681;AB209449;ABBA01024819;AF060200;AF060201;AF060202;AF075005;AMYH02006571;AP006191;BC096243;BC096244;BC096245;BC099642;BP352716;CH471055;NG_011791;NM_001106;X77533;XM_005265583 AAC28458;AAC64515;AAH96243;AAH96244;AAH96245;AAH99642;BAA24180;BAD92686;CAA54671;EAW64536;NP_001097;Q13705;XP_005265640 Hs.174273 1682786;1793200;2133916;2149331;5014053;5015861;5022929;5115852;5491244;5493862;7185938 Acvr2b;D10S16;D1S3693;MARC_4816-4817:991938566:3;PMC202382P2;RH65433;RH99151;STS-N30308;ksks333;ksks390 ACTRIIB;ActR-IIB;HTX4;MGC116908 OTTHUMP00000161965;activin receptor type-2B APPROVED protein-coding ENSG00000114739 HGNC:174 04106 602730;613751 REVIEWED 731811 ACVR2A activin A receptor, type IIA This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013] 2 2 2 q22.3 142316710 142402536 + 148602086 148688396 + 147844517 147930827 + 1580863;1559169;2301061;2301065;2317217;2325239;6480464;6907045 12770730;14988818;16337854;9076583;9714055 10187774;10323406;10504300;10638976;10681527;10702675;10746731;11069203;11266516;11882656;11969340;12032389;12135884;12213882;12385827;12477932;12651901;12665502;12667445;1311955;1314589;14691305;14738881;15123239;15451561;15489334;15611116;15621726;15815621;16344560;16380996;1646080;16461635;16672363;16982625;17258738;17356069;17456004;17472960;18001154;18436533;18781190;18941508;19064572;19126782;19308291;19366699;19386982;19503063;19574343;20011542;20197483;20200332;20339536;20379614;20424473;20634197;20734064;20801928;20886391;21139048;21353880;21378277;21490791;21906983;21976273;22001236;22085900;22296042;22528352;22718755;22723898;22848350;22949641;23263486;23633461;7890768;8242742;8243335;8358434;8612709;8622651;8640777;8702914;8889548;8889549;8971337;9032295;9202237;9748228;9872992;9892009 92 P27037 AA125825;ABBA01028014;ABBA01028015;ABBA01028016;AC009480;AK301629;AK314124;AMYH02004947;AMYH02004948;AMYH02004949;AW162986;BC067416;BC067417;BC067418;BC069707;BG616903;BM503220;BU676046;BX645435;CH471058;D31770;DA531622;DN918410;JA738723;M93415;NM_001278579;NM_001278580;NM_001616;T07746;W03601;X62381;X63128;XM_005263843 AAA35504;AAH67417;AAH67418;AAH69707;AAX93050;BAA06548;BAG36815;BAG63114;CAA44245;CAA44839;CCF77014;EAX11561;EAX11562;NP_001265508;NP_001265509;NP_001607;P27037;XP_005263900 Hs.470174 1650600;1686654;1727823;1784322;2182105;2191369;5015988;5021718 Acvr2a;G63177;MARC_17905-17906:1025019334:1;RH68541;RH98206;SHGC-83971;STS-X62381;ksks388 ACTRII;ACVR2 OTTHUMP00000197917;OTTHUMP00000197918;activin receptor iia;activin receptor type-2A APPROVED protein-coding ENSG00000121989 HGNC:173 00025 102581 REVIEWED 1344480 ACVR1 activin A receptor, type I Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008] 2 2 2 q23-q24 152206070 152344336 - 158592958 158732374 - 157736446 157875862 - 1580863;1559169;2313802;2317217;6480464;6484113;6907045;7240710;8554872;8699517 11675415;12770730;9714055 10085121;10583507;10631143;10652350;10665670;11069203;11266516;11969340;12032389;12065756;12477932;12651901;12702211;12857866;15489334;15611116;15761153;16344560;16642017;17351709;17496924;17572636;18019378;18234825;18292470;18436533;18684712;18830232;18854405;18952055;19028479;19064572;19085907;19148527;19299629;19300893;19330033;19335617;19400542;19506109;19543505;19574343;19736306;19758997;19796185;19896889;19929436;19996292;20011542;20463014;20577760;20634197;20663871;20677014;20716560;20734064;20736820;21248739;21297076;21377447;21617230;21668474;21791611;21878751;22630080;22748444;22884369;22949078;22971142;22977237;23142694;23169291;23227223;23260810;23455153;24047559;24347165;24705250;24705251;24705252;24705254;24850914;7791754;7890683;8006002;8242742;8248234;8389764;8397373;8599089;8612709;8622651;8702914;9136927;9267036;9501322;9748228;9872992;9884026 90 C9J1R3;C9JHJ7;C9JW28;C9K064;D3DPA4;F5GY91;Q04771 A38807;ABBA01004847;AC013731;AC019186;AK297765;AK313630;AMYH02005048;AMYH02005049;AMYH02005050;AMYH02005051;AMYH02005052;BC033867;BC036748;CH471058;DA796090;HB448223;HI574330;HM015588;L02911;NG_008004;NM_001105;NM_001111067;XM_005246939;XM_005246940;XM_006712825;Z22534 AAA36614;AAH33867;AAY15094;AAY24272;ADL14509;BAG60113;CAA02405;CAA80256;CAZ91465;CBX47654;EAX11438;EAX11439;EAX11440;EAX11441;EAX11442;EAX11443;NP_001096;NP_001104537;Q04771;XP_005246996;XP_005246997;XP_006712888 Hs.470316 1331573;1331597;1341043;1644118;1659745;1705306;1753845;1776378;1849101;2180363;2189345;2218974;7187947 ACVR1_4033;D2S1294;D2S2000;D2S284;D4S1625;D4S2417;MARC_1909-1910:991931646:1;RH68903;RH69582;RH70974;SHGC-78610;SHGC-89211 ACVR1A;ACVRLK2;ALK2;FOP;SKR1;TSRI ACTRI;OTTHUMP00000162806;OTTHUMP00000204604;OTTHUMP00000204626;OTTHUMP00000240120;TGF-B superfamily receptor type I;activin A receptor, type II-like kinase 2;activin receptor type I;activin receptor type-1;activin receptor-like kinase 2;hydroxyalkyl-protein kinase;serine/threonine-protein kinase receptor R1 APPROVED protein-coding ENSG00000115170 HGNC:171 00021 102576;135100 REVIEWED 1607001 ACTRT3 actin-related protein T3 ASSOCIATED WITH Dyskeratosis Congenita (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); male germ cell nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; paracetamol; aflatoxin B1 (ortholog) 3 3 3 q26.2 167883851 167885293 - 169484709 169487683 - 169766921 169769895 - 6480464;8554872 11750065;12477932;14702039;15489334;18692047;24163127 84517 Q9BYD9 AB049117;ABBA01058704;ABBA01182499;AC078802;AI811210;AK055346;AMYH02008099;AMYH02008100;BC007289;NG_016363;NM_032487 AAH07289;ABM87440;ABW03891;BAB39481;BAB70906;NP_115876;Q9BYD9 Hs.135411 1715375;2110263 ARPM1__4373;RH120520 ARP-T3;ARPM1;MGC15664 actin related protein M1;actin-related protein M1 APPROVED protein-coding ENSG00000184378 HGNC:24022 12253 608534 VALIDATED 734123 ACVR1C activin A receptor, type IC ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008] 2 2 2 q24.1 151996398 152098507 - 158383279 158485399 - 157526767 157628887 - 1580863;6480464;6907045;8554872 11485994;12063393;12477932;12606401;15107418;15150278;15196700;15489334;15531507;15815621;16603637;18480259;18784254;18951876;19275893;20734064;21356369;22086737;22939624;23765385;23793810 130399 Q53SF5;Q8NER5 ABBA01004847;AC019186;AC079750;AF525679;AF525680;AF525681;AMYH02005044;AMYH02005045;AMYH02005046;AMYH02005047;AW014016;AY127050;BC022530;BC030101;BI601014;CH471058;CS173113;CS173115;CS173117;NM_001111031;NM_001111032;NM_001111033;NM_145259 AAH22530;AAM93495;AAP21993;AAP21994;AAP21995;AAX88951;AAY15093;ABM86496;ABW03656;CAJ33702;CAJ33703;CAJ33704;EAX11444;EAX11445;EAX11446;NP_001104501;NP_001104502;NP_001104503;NP_660302;Q8NER5 Hs.562901 1761163;1784242;2113492;5014055 BZ943404;D1S3697;SHGC-145176;SHGC-156123 ACTR-IC;ACVRLK7;ALK-7;ALK7 OTTHUMP00000162803;OTTHUMP00000204601;OTTHUMP00000204602;OTTHUMP00000204603;activin receptor type IC;activin receptor type-1C;activin receptor-like kinase 7 1643253 BW133_H APPROVED protein-coding ENSG00000123612 HGNC:18123 10608 608981 VALIDATED 1352202 ACY3 aspartoacylase (aminocyclase) 3 ENCODES a protein that exhibits aminoacylase activity (ortholog); INVOLVED IN metabolic process (inferred); viral process (inferred); PARTICIPATES IN alanine, aspartate and glutamate metabolic pathway; histidine metabolic pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; cyclosporin A; pirinixic acid 11 11 11 q13.2 64744479 64752583 - 67410026 67418130 - 67642555 67650659 - 1580863;6480464;6907045 12477932;14656720;15489334;17207965;19056867;19486448;19664597;21988832 91703 E9PRA7;Q96HD9 ABBA01024026;AF359506;AMYH02024997;AP003385;AY032593;AY040761;AY169233;BC008689;CH471076;NM_080658 AAH08689;AAK51135;AAK94770;AAM00248;AAN87896;ADQ32340;EAW74663;EAW74664;NP_542389;Q96HD9 Hs.126265 1339809 D11S4155 ACY-3;HCBP1;MGC9740 HCV core-binding protein 1;N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming);OTTHUMP00000235614;OTTHUMP00000235615;acylase III;aminoacylase-3;aspartoacylase-2;hepatitis C virus core-binding protein 1 protein-coding ENSG00000132744 HGNC:24104 12422 614413 VALIDATED 1351089 ACYP1 acylphosphatase 1, erythrocyte (common) type Acylphosphatase is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase, on the basis of their tissue localization. This gene encodes the erythrocyte acylphosphatase isoenzyme. Alternatively spliced transcript variants that encode different proteins were identified through data analysis. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 55557594 55568402 - 75519924 75536181 - 75053221 75069478 - 1298556;1580863;6480464;6907045 7796909 12409302;12477932;12508121;14992377;15489334;1645713;2169259;21832049;21890473;21906983;3026468;9730610 97 G3V2U7;G3V3F8;G3V597;P07311 ABBA01030707;AC007055;AK312101;AL049780;AMYH02029529;AMYH02029530;AW390293;BC035568;BE467248;BG614847;BX104912;CH471061;NM_001107;NM_203488;X84194;XM_005268239;XM_005268240;XM_006720335 AAD31937;AAH35568;BAG35037;CAA58987;EAW81216;NP_001098;NP_982355;P07311;XP_005268296;XP_005268297;XP_006720398 Hs.18573 1740671;1856698;2107813;2167671 A007H05;ACYP1_8191;D14S1172;RH70143 ACYPE;OTTHUMP00000246802;OTTHUMP00000246804;OTTHUMP00000246805;acylphosphatase, erythrocyte isozyme;acylphosphatase, organ-common type isozyme;acylphosphatase-1;acylphosphate phosphohydrolase 1 APPROVED protein-coding ENSG00000119640 HGNC:179 02928 600875 REVIEWED 6769114 ACVR2B-AS1 ACVR2B antisense RNA 1 3 3 3 p22.2 38428433 38432226 - 38492518 38496311 - 38451027 38454820 - 100128640 ABBA01024819;ABBA01024820;AK025619;AMYH02006570;AMYH02006571;AP006191;NG_011791;NR_028389 Hs.570596 5015961;5017170;5118718 D11S3590;D15S1477;L29953 APPROVED ncrna ENSG00000229589 HGNC:44161 VALIDATED 1353319 ACY1L aminoacylase 1-like 96 HGNC:178 1344501 AD2 Alzheimer disease 2 (APOE*E4-associated, late onset) ASSOCIATED WITH Alzheimer disease type 2 (inferred); Lipoprotein Glomerulopathy (inferred); Macular Degeneration, Age-Related, 1 (inferred) 7240710 HGNC:182 104310;269600;603075;611771 737253 ACVRL1 activin A receptor type II-like 1 This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 51103338 51119286 + 52300657 52317145 + 51906913 51923361 + 1580863;1598736;1300352;1601117;1300250;1601116;1559169;5128837;5128842;6480464;6484113;7240710;8554872;8699517 11062473;11586351;12770730;14684682;15024723;17392319;20056902;20228181 10187774;10694922;10716993;10767348;11170071;11266516;11278302;11279102;11356828;11484689;12065756;12114496;12393874;12453878;12477932;12920067;14580334;14702039;15489334;15517393;15611116;15687131;15702480;15712270;15712271;15880681;15951295;16049014;16179574;16429404;16470589;16525724;16540754;16542389;16705692;16752392;16776339;16785228;16861286;16941203;17068149;17219009;17224686;17311849;17388964;17620321;17786384;18029348;18065769;18159113;18187665;18285823;18309101;18312453;18333754;18498373;18543223;18607909;18673552;18829861;18855162;18949376;18972447;18974388;19051722;19270816;19357124;19366699;19494318;19506300;19508727;19592636;19758997;19903896;19913121;20065063;20124460;20301525;20346360;20414677;20424473;20501893;20587022;20628086;20734064;21158752;21212415;21465483;21546842;21791611;21967607;22013081;22028876;22087763;22233626;22277251;22391627;22493445;22632830;22677372;22718755;22799562;23048070;23124896;23263486;23447486;23460919;23707512;23919827;24189493;24319055;24323303;8242742;8397373;8640225;8717052;8928814;9245985;9651680 94 D9IPD9;E7EN07;F8W0N2;G3V1W8;H3BTZ2;P37023 A38805;ABBA01031620;AC025259;AK056725;AK298493;AK300619;AK303331;AMYH02026495;BC042637;CH471111;DN999570;HM161905;HM161906;L17075;NG_009549;NM_000020;NM_001077401;U77707;U77708;U77709;U77710;U77711;U77712;U77713;XM_005269235;Z22533 AAA16160;AAB61900;AAH42637;ADJ79922;ADJ79923;ADZ15645;BAG60701;BAG62312;BAG64396;CAA02404;CAA80255;EAW58211;EAW58212;EAW58213;EAW58214;NP_000011;NP_001070869;P37023;XP_005269292 Hs.591026 1337891;1747707;1776096;1855039;5107054;5107056;5107058;5107060;7186559 D12S1677;D12S2187;D12S2188;D12S2189;D12S2190;G64249;RH46550;STS-T96544 ACVRLK1;ALK-1;ALK1;HHT;HHT2;ORW2;SKR3;TSR-I OTTHUMP00000241377;OTTHUMP00000241379;TGF-B superfamily receptor type I;activin A receptor, type II-like kinase 1;activin receptor-like kinase 1;serine/threonine-protein kinase receptor R3 APPROVED protein-coding ENSG00000139567 HGNC:175 03181 600376;601284 REVIEWED 1351880 ACY1 aminoacylase 1 This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010] 3 3 3 p21.1 51996840 52002495 + 52017300 52023218 + 51983284 51989202 + 1298689;1580863;6480464;6907045;7240710;8554872;8699517 1707030 11154063;11250542;12477932;12548635;12933810;15028279;15489334;15927344;15953868;16189514;16274666;16313167;16404153;16465618;16889417;16962797;17045186;17516490;17562838;18341290;19056867;20480396;21044950;21128244;21414403;21832049;21906983;21963094;21987572;21988832;23317546;23739232;24654937;24846301;2542383;2745715;373141;6248297;6781469;6803586;6948533;7974002;8357837;8394326 95 B4DNW0;C9JYZ0;F8WC59;Q03154;V9HWA0 ABBA01024516;AC115284;AK298274;AMYH02006795;BC000545;BC003023;BC014112;BE269642;CD014023;CD014026;CD014027;CH471055;D14524;D16307;EU794586;L07548;NG_012036;NM_000666;NM_001198895;NM_001198896;NM_001198897;NM_001198898 AAA02852;AAH00545;AAH03023;AAH14112;ABM82834;ABM87833;ACJ13640;BAA03397;BAA03814;BAG60535;EAW65181;NP_000657;NP_001185824;NP_001185825;NP_001185826;NP_001185827;Q03154 Hs.334707 1658480;1683279;1740227;1743077;1788704 D3S1660;GDB:251741;RH11608;RH135818;RH66446 ACY-1;ACY1D;HEL-S-5 N-acyl-L-amino-acid amidohydrolase;OTTHUMP00000212459;OTTHUMP00000212462;OTTHUMP00000212463;OTTHUMP00000212464;OTTHUMP00000212465;OTTHUMP00000220363;acylase;aminoacylase-1;epididymis secretory protein Li 5 APPROVED protein-coding ENSG00000114786;ENSG00000243989 HGNC:177 00092 104620;609924 REVIEWED 1345672 AD5 Alzheimer disease 5 ASSOCIATED WITH Alzheimer Disease (inferred); Alzheimer Disease 5 (inferred) 7240710 10712207;9333264 8081 1298109;1335012;7186564 D12S1045;D12S98 HGNC:185 104300;602096 1603401 AD7C-NTP neuronal thread protein AD7c-NTP This gene is unusual in that its coding sequence is derived almost entirely from a cluster of different Alu repeat sequences. However, the mRNA and the encoded protein have been shown to be expressed in neurons, and overexpressed in brains with Alzheimer's disease. In vitro studies also demonstrated that abnormal expression of this gene promoted neuritic sprouting and cell death, associated with dementia in Alzheimer's disease. p36 11897561;15346770;15652152;9399956 27308 O60448 AF010144 AAC08737;O60448 AD7CNTP protein-coding 07595 7174904 ADAD1P2 adenosine deaminase domain containing 1 (testis-specific) pseudogene 2 18 18 18 44446740 44447434 + 47590162 47590856 + 50063792 50064486 + 100422407 ABBA01018667;AC091044;AMYH02034702;NG_026329 pseudo HGNC:44552 INFERRED 7174907 ADAD1P1 adenosine deaminase domain containing 1 (testis-specific) pseudogene 1 3 3 3 39269809 39270973 + 39328225 39329389 + 39286734 39287898 + 100422386 ABBA01024808;AC092053;AMYH02006586;NG_025689 pseudo HGNC:44550 INFERRED 1350765 ACYP2 acylphosphatase 2, muscle type Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. [provided by RefSeq, Jul 2008] 2 2 2 p16.2 54183282 54373292 + 54342410 54532437 + 54115273 54305300 + 1580863;6480464;6907045 10542090;11799398;12409302;12477932;15489334;15670608;16084386;18649358;18809411;19851296;20198315;20379614;20877624;21658281;22522822;23754389;24250222;24816145;3026468;6100723;7487897;7796909;8268218;9070879;9395090 98 E9PF46;F8WA34;P14621;U3KPX1;U3KPX8;U3KQ09;U3KQ94;U3KQL2 ABBA01075249;ABBA01075250;ABBA01075251;ABBA01075252;AC008280;AC073879;AC092622;AC108929;AK307096;AMYH02003840;AMYH02003841;AMYH02003842;AMYH02003843;BC012290;BF739886;CA308062;CH471053;NM_138448;X84195 AAH12290;AAX88874;AAY14721;CAA58988;EAX00152;EAX00153;EAX00154;EAX00155;EAX00156;EAX00157;NP_612457;P14621 Hs.516173;Hs.642983 1681482;1698536;1720095;1752025;1753523;1784272;2107815;2163248 ACYP2_8192;RH102819;RH123789;RH35993;RH92612;SHGC-105943;SHGC-107444;SHGC-172627 ACYM;ACYP OTTHUMP00000159620;OTTHUMP00000200601;OTTHUMP00000200602;acylphosphatase, muscle type isozyme;acylphosphatase-2;acylphosphate phosphohydrolase 2 APPROVED protein-coding ENSG00000170634 HGNC:180 00028 102595 REVIEWED 736149 ADA adenosine deaminase This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 39956805 39989017 - 43248160 43280376 - 44619519 44651735 - 1304201;1300251;1300353;1624289;1624292;1624286;1624305;1624309;1624290;1580863;1300048;2313538;2313539;2313540;5128859;5128842;5128858;5128847;5128848;5128861;5128854;5128856;5128857;5128845;6480464;6907045;7240710;8554872;8699517 10410539;12194640;12472193;15168879;15969953;16501670;16641873;16754522;16860713;17259686;18561952;19166862;20228181;20809996;21161045;21320715;6090454;8227344;9255891;9478961;9605386;9784839 10506947;10899322;11121182;11125033;11278278;11354825;11534018;11772392;11780052;11901152;11999881;12104097;12113294;12150791;12381379;12477932;12712614;12774669;12809673;1284479;12935677;14684150;14726805;15016824;15063762;15257174;15281007;15489334;15632314;15761857;15983379;16133068;16221767;16224193;16410722;16670267;16724628;16886895;1696926;16970880;17181544;17243920;17287605;17340203;17397971;17536804;17696452;18029348;1807098;18218852;18222177;18302529;18357489;18560234;18562134;1856451;18597230;18673094;18680557;18768081;18794722;19019667;19026999;19086053;19172437;19237091;19470168;19521708;19628957;19633200;19668260;19703146;19789510;19845893;19901882;19913121;20147632;20174870;20180986;20301656;20306731;20347569;20392501;20412337;20414589;20453107;20480728;20522203;20548128;20554694;20581655;20590444;20615890;20628086;20651391;20805743;20836741;20872567;20943049;20959412;21044950;21198750;21269755;21350874;21359089;21365880;21461854;21496384;21593678;21640091;21725047;21734253;21856036;21860532;21865054;21906983;21919946;21988832;22062893;22086524;22104430;22184407;22257696;22505724;22614344;22719194;22942500;22952909;23066321;23096558;23128233;23160984;23193172;23240012;23433854;23768730;23897810;23959645;24257613;24453844;24640520;24722188;24816145;2770711;2783588;3010705;3028473;3182793;3348976;3560174;3838797;3839456;3839802;6198240;6208479;6526272;6546794;6688808;7371221;7570001;7594462;7599635;7759315;8031011;8101391;8125298;8242080;8299233;8452534;8589684;8894685;9103436;9154805;9225964;9247966;9299436;9330696;9361033;9414266;9674425 100 F5GWI4;F5GXW0;F5GYD4;P00813 ABBA01052645;ABBA01052646;AK123988;AK223397;AL139352;AL832305;AMYH02037137;BC007678;BC040226;BI601734;CH471077;HH769637;HH769781;KF456921;KJ534760;M13792;NG_007385;NM_000022;X02189;X02190;X02994;XM_005260236;XM_006723679;XR_244129;Z97053 AAA78791;AAH07678;AAH40226;ABM83607;ABM86850;AHW56400;BAD97117;CAA26130;CAA26734;CBX85542;CBX85614;EAW75904;EAW75905;EAW75906;EAW75907;NP_000013;P00813;XP_005260293;XP_006723742 Hs.654536 1668271;1741129;1741141;1741143;1741367;1741409;1741413;1743909;1743911;1744831;1744833;1791416;2114006;2115173 ADA;AL023480;D20S1110;GDB:177907;GDB:178379;GDB:178380;GDB:180925;GDB:181143;GDB:181184;GDB:375441;GDB:375467;GDB:568809;GDB:568814;PMC109465P1 OTTHUMP00000031785;OTTHUMP00000240459;OTTHUMP00000240461;adenosine aminohydrolase APPROVED protein-coding ENSG00000196839 HGNC:186 00038 102700;608958 REVIEWED 6771240 ADAM12-OT1 ADAM12 overlapping transcript 1 (non-protein coding) q26.2 14702039;20404130 100967225 AK055628 Hs.594351 1651064;1665233;1774738 A006V29;D10S2377;RH15686 CAR10 ncrna HGNC:43841 1606972 ADAD1 adenosine deaminase domain containing 1 (testis-specific) ENCODES a protein that exhibits adenosine deaminase activity (inferred); RNA binding (inferred); INVOLVED IN multicellular organismal development (inferred); RNA processing (inferred); spermatid development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH theophylline; 4,4'-diaminodiphenylmethane (ortholog); pirinixic acid (ortholog) 4 4 4 q27 120683547 120734368 + 123300121 123350957 + 122378966 122429802 + 6480464;8554872 12477932;14702039;16344560;17554300;17558408;18311140;19302705;19523143;20549515;20553587;21297633;21829393;23817569;23817571;7543294;9541871 132612 C9JAT9;C9JGM6;Q96M93 ABBA01044734;ABBA01044735;AC022489;AK057303;AK093297;AMYH02010018;BC040229;CH471056;DB027040;DB040584;DB058857;DB059180;HC007332;NM_001159285;NM_001159295;NM_139243;XM_005262741;XM_005262742;XM_005262743;XM_005262744;XM_005262745 AAH40229;ABM84128;ABM84129;ABM87529;ABM87530;BAB71416;BAC04125;CBH19471;EAX05228;EAX05229;EAX05230;EAX05231;EAX05232;EAX05233;EAX05234;NP_001152757;NP_001152767;NP_640336;Q96M93;XP_005262798;XP_005262799;XP_005262800;XP_005262801;XP_005262802 Hs.518957 FLJ32741;Tenr OTTHUMP00000196372;OTTHUMP00000196373;OTTHUMP00000196374;adenosine deaminase domain-containing protein 1;testis nuclear RNA-binding protein protein-coding ENSG00000164113 HGNC:30713 15594 614130 VALIDATED 1602291 ADAD2 adenosine deaminase domain containing 2 ENCODES a protein that exhibits adenosine deaminase activity (inferred); RNA binding (inferred); INVOLVED IN RNA processing (inferred); INTERACTS WITH (+)-catechin 16 16 16 q24.1 68526534 68532570 + 84224723 84230772 + 84191117 84197166 + 12477932;14702039;16344560;21832049;22589738;8889548 161931 H3BNP6;Q8NCV1 ABBA01016918;AC009123;AF447586;AK093046;AK093523;AK131102;AK315171;AMYH02032562;BC033491;BU731201;CH471114;DB036324;NM_001145400;NM_139174;XM_005255814;XM_006721154 AAH33491;AAM22869;ADZ15469;BAC04032;BAC85152;BAG37613;EAW95491;EAW95492;EAW95493;EAW95494;NP_001138872;NP_631913;Q8NCV1;XP_005255871;XP_006721217 Hs.8977 5020948 G35510 FLJ00337;TENRL OTTHUMP00000174989;adenosine deaminase domain-containing protein 2;testis nuclear RNA-binding protein-like protein-coding ENSG00000140955 HGNC:30714 14107 VALIDATED 1351482 ADAM14 a disintegrin and metalloproteinase domain 14 8752 HGNC:192 735847 ADAM10 ADAM metallopeptidase domain 10 Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. [provided by RefSeq, Jul 2008] 15 15 15 q22 35776749 35930110 - 58887403 59042177 - 58595204 58749978 - 1300252;1580863;2302204;1559151;2317976;5129489;6480464;5686846;6484113;6907045;8699517;7240710;8554872 12354787;15688065;15950787;17761886;20621845;21145125 10423016;10527948;10737800;10958785;11477090;11511685;11741929;11786905;11831872;11839628;12080182;12176995;12438920;12475894;12477932;12535668;12568494;12590602;12629514;12665519;12714508;12730960;12782344;12794186;12815056;12832423;12960155;14627705;14636066;14702039;14707550;15182369;15280379;15280425;15300588;15507448;15905513;15958533;16239146;16263114;16263699;16309826;16344560;16390331;16627989;16648485;16735514;16751190;16806063;16942750;17170699;17187903;17192395;17290285;17557115;17699774;17727679;17895248;17965014;18074395;18187620;18200054;18215140;18355445;18373975;18381078;18420943;18480749;18514661;18603587;18642355;18676862;18781797;18952609;18971959;18979631;18981120;19091752;19114711;19144697;19260824;19278423;19344981;19357285;19394555;19426159;19435795;19541935;19564338;19587294;19603142;19608551;19632330;19665015;19667218;19672558;19704010;19783906;19823572;19826051;19865098;19913121;19946888;20059578;20070888;20136654;20348102;20371803;20381196;20443867;20624979;20628086;20676056;20677014;20711474;20814017;20863729;21103979;21123580;21171968;21196064;21259244;21368228;21402705;21441465;21569301;21576249;21611732;21625236;21695060;21804545;21876729;21906983;21956108;21959176;21969210;22006996;22065584;22116825;22167753;22268729;22404213;22474035;22505724;22572541;22586143;22613720;22641052;22689693;22770404;22923171;22933306;22939629;22940701;22965144;23035126;23124962;23192951;23306532;23317503;23429442;23460612;23526433;23546882;23579328;23666529;23674691;23676497;23720309;23746173;23773531;23912592;24055016;24055471;24121505;24130797;24165480;24189063;24247244;24250222;24286866;24386293;24404179;24518602;24530397;24654937;24662289;24725932;24833351;7593158;7822279;8694785;9016778;9305925;9344679;9441766;9618175 102 B5MC71;C9J9B4;H0YK32;H0YK87;H0YNC5;H3BS53;O14672 AA243020;ABBA01038983;AC018904;AC091046;AF009615;AK023460;AK300472;AMYH02030528;AMYH02030529;AMYH02030530;AMYH02030531;AMYH02030532;AY726599;BC055087;BC104659;BC126253;BC143935;BE327886;BE934813;BX372217;CH471082;DA941750;NG_033876;NM_001110;XM_005254117;Z48579 AAC51766;AAI26254;BAG62190;CAA88463;EAW77539;EAW77540;EAW77541;NP_001101;O14672;XP_005254174 Hs.172028;Hs.578508;Hs.745136 1339275;1646218;1678519;1706564;1736474;1758819;1773329;1795288;2124869;2127507;2172931;2179379;5019637;7190661;7190665 A002R12;ADAM10_1576;D15S1248;D15S148;D15S686E;G32289;RH17532;RH45136;RH45644;RH45709;RH66959;SHGC-150627;SHGC-81261 AD10;AD18;ADAM 10;CD156c;CDw156;HsT18717;MADM;RAK;kuz OTTHUMP00000163471;OTTHUMP00000165066;a disintegrin and metalloprotease domain 10;a disintegrin and metalloproteinase domain 10;disintegrin and metalloproteinase domain-containing protein 10;kuzbanian protein homolog;mammalian disintegrin-metalloprotease APPROVED protein-coding HGNC:188 03723 602192;615537;615590 REVIEWED 1342889 ADAM13 a disintegrin and metalloproteinase domain 13 8753 HGNC:191 1605272 ADAL adenosine deaminase-like ENCODES a protein that exhibits adenosine deaminase activity; INVOLVED IN drug metabolic process (inferred); metabolic process (inferred); nucleobase-containing small molecule metabolic process (inferred); FOUND IN cytosol (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; methyl methanesulfonate 15 15 15 q15.3 20393719 20416958 + 43622872 43646096 + 43330356 43354555 + 6480464 12477932;21755941;23645737 161823 H3BQR9;H3BUD6;Q6DHV7 ABBA01038350;AC009852;AC018924;AK126583;AK298870;AMYH02030303;AX420459;BC075857;BQ015642;BX647599;CA436653;CH471125;HY164938;NM_001012969;NM_001159280;XM_005254204;XM_005254205;XM_005254206 AAH75857;BAG54348;BAG60990;CAD35487;EAW92598;EAW92599;NP_001012987;NP_001152752;Q6DHV7;XP_005254261;XP_005254262;XP_005254263 Hs.533913 1671677;5015879;5022588;5094004 A010A25;D5S1597E;G33049;GDB:314949 DKFZp313B2137;FLJ44620 adenosine deaminase-like protein protein-coding ENSG00000168803 HGNC:31853 11779 VALIDATED 1345025 ADAM16 a disintegrin and metalloproteinase domain 16 8750 HGNC:194 1316754 ADAM11 ADAM metallopeptidase domain 11 This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene represents a candidate tumor supressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 39547073 39569717 + 42836405 42859214 + 44759037 44781846 + 1580863;6480464 11076863;11545539;12477932;14759258;15146197;15203218;16169070;7593158;7956356;8252040;9693107 4185 AAB29191;B4DKD2;H7BY08;K7EKA8;O75078 AB009675;ABBA01028347;ABBA01028348;ABBA01028349;AC005180;AK296512;AMYH02033496;AMYH02033497;AMYH02033498;BC144550;CD630831;CD630842;CH471178;CN418442;D17390;D31872;NM_002390;XM_005257373 AAB29191;AAI11917;BAA04213;BAA06670;BAA06671;BAA32352;BAG59144;EAW51578;EAW51579;EAW51580;NP_002381;O75078;XP_005257430 Hs.6088 1654822;1795290;2127169;2145086;2148629;2149123;5114648;5491296 ADAM11_63;D17S1926;D17S2062;MARC3917-3918;RH18285;RH47484;RH68208;WI-18788 MDC ADAM 11;a disintegrin and metalloproteinase domain 11;disintegrin and metalloproteinase domain-containing protein 11 APPROVED protein-coding ENSG00000073670 HGNC:189 01114 155120 REVIEWED 1317265 ADAM12 ADAM metallopeptidase domain 12 This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014] 10 10 10 q26 121478343 121851743 - 127700960 128077127 - 126012385 126388558 - 1625347;1559174;1580863;2317976;6480464;6484113;8554872 15334463;15688065;15910695 10329602;10788519;10831617;10849447;10944520;11095942;11127814;11313349;11786904;12000741;12000744;12456779;12477932;12509413;12615925;12717386;12915458;12915587;12952982;12975309;14691998;14702039;14743448;15242759;15280379;15358598;15364951;15381692;15509542;15574124;15574885;15586220;15662668;15710903;15930294;15994630;16061220;16139919;16213489;16344560;16385451;16453284;16455653;16495931;16752438;16869727;17066252;17189408;17278174;17440933;17465398;17620406;17701664;17846126;17987603;18029348;18081311;18241035;18264948;18264967;18311789;18342566;18365756;18382998;18395873;18519826;18604515;18621736;18785180;18801731;18978109;19003798;19040574;19213876;19266495;19268722;19278423;19285649;19544290;19544357;19609547;19736612;19769962;19837132;20013872;20090292;20187159;20197665;20218926;20230315;20305677;20379614;20404130;20457602;20509156;20509157;20533908;20688878;20951132;21034452;21103624;21112873;21173277;21240579;21258805;21277576;21330122;21493715;21501859;21518768;21617380;21875931;21986939;22015022;22089237;22267082;22284607;22309076;22357350;22540429;22589738;22662180;22676623;22678798;22767580;22808268;22847849;22882974;22903068;22926263;22927907;23135915;23319000;23324579;23400010;23421942;23458101;23491141;23517395;23578941;23589494;23645517;23680494;23771733;24006261;24096698;24116070;24116709;24243624;24690292;7566181;9417060;9642263 8038 A8K6G4;O43184;Q5JRP2;U5NE98 ABBA01034174;ABBA01034175;ABBA01034176;ABBA01034177;ABBA01034178;ABBA01034179;AC022015;AC026226;AC063963;AF023476;AF023477;AK055628;AK127856;AK291629;AL589787;AL691463;AMYH02023998;AMYH02023999;AMYH02024000;AMYH02024001;AMYH02024002;AMYH02024003;AMYH02024004;AY358878;BC060804;BX098286;CB960379;CH471066;DA027173;DA863951;DR004947;HC006764;HG975387;KF444157;NG_029050;NM_001288973;NM_001288974;NM_001288975;NM_003474;NM_021641;T91975 AAC08702;AAC08703;AAH60804;AAQ89237;AGX93290;BAF84318;CBH19188;EAW49205;EAW49206;EAW49207;EAW49208;EAW49209;NP_001275902;NP_001275903;NP_001275904;NP_003465;NP_067673;O43184 Hs.594351;Hs.741333 1340657;1644271;1651064;1651373;1659473;1665233;1669678;1674232;1690095;1696002;1712312;1713085;1739489;1751909;1772796;1795292;1853879;2126780;2138111;2139505;2158822;2158850;2176161;7187841 A006V29;A008K16;ADAM12_693;D10S1602;D10S575;D9S2055;G17495;G31019;G54065;RH120330;RH15686;RH44497;RH44607;RH69950;RH91967;SHGC-105790;SHGC-33384;SHGC-35931;SHGC-82769;WI-17464;WI-17472;WI-17697;WI-18158 ADAM12-OT1;CAR10;MCMP;MCMPMltna;MLTN;MLTNA OTTHUMP00000020726;OTTHUMP00000020727;disintegrin and metalloproteinase domain-containing protein 12;meltrin-alpha;metalloprotease-disintegrin 12 transmembrane APPROVED protein-coding ENSG00000148848 HGNC:190 04092 602714 REVIEWED 1350533 ADAM18 ADAM metallopeptidase domain 18 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a sperm surface protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 8 8 8 p11.22 38393916 38539440 + 39442087 39587583 + 39584568 39730064 + 1580863;6480464;8554872 10395895;12200459;12477932;12975309;15489334;16344560;20379614;22174851;8125298;9665629 8749 E5RIP0;E5RK96;Q0VAI3;Q9Y3Q7 ABBA01015910;AC109633;AC136365;AC244257;AC245062;AJ133004;AK225744;AK313961;AY358321;BC034624;BC070279;BC121045;BC121046;CH471080;DB049415;KF458743;NM_001190956;NM_014237;XR_247133;XR_430697 AAH34624;AAH70279;AAI21046;AAI21047;AAQ88687;BAG36677;CAB40812;EAW63276;EAW63277;NP_001177885;NP_055052;Q9Y3Q7 Hs.127930 1336965 DXS1222 ADAM 18;ADAM27;MGC41836;MGC88272;tMDC III;tMDCIII OTTHUMP00000225672;OTTHUMP00000225673;OTTHUMP00000225674;OTTHUMP00000225676;a disintegrin and metalloproteinase domain 18;disintegrin and metalloproteinase domain-containing protein 18;putative ADAM18 gene product;transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III;uncharacterized protein LOC8749 APPROVED protein-coding ENSG00000168619 HGNC:196 07469 REVIEWED 6898435 ADAM1B ADAM metallopeptidase domain 1B, pseudogene INTERACTS WITH benzo[a]pyrene (ortholog) 12 12 12 111990453 111992193 + 112364998 112366738 + 111927194 111928934 + 6480464 100420505 ABBA01019917;AC003029;AMYH02027213;NG_024129 pseudo HGNC:44366 INFERRED 1345474 ADAM1A ADAM metallopeptidase domain 1A, pseudogene INTERACTS WITH valproic acid; 3,4-methylenedioxymethamphetamine (ortholog); aflatoxin B1 (ortholog) 12 12 12 q24.13 111962428 111965067 + 112336867 112339706 + 111899063 111901902 + 6480464 10524237;11784061;16344560;9032439 8759 ABBA01019915;AC003029;AMYH02027212;CA427398;DA031170;NR_036636;Y09232 Hs.661708 ADAM1;ADAM1P;FTNAP;Ftna;PH-30a ADAM metallopeptidase domain 1 (fertilin alpha) pseudogene;a disintegrin and metalloproteinase domain 1 (fertilin alpha) pseudogene APPROVED pseudo HGNC:187 VALIDATED 735923 ADAM19 ADAM metallopeptidase domain 19 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013] 5 5 5 q33.3 152930875 153029355 - 156822071 157002831 - 157477304 157575823 - 1580863;1559267;2317976;6480464;8554872 14673146;15688065 10531379;10887142;11116142;11162584;11708814;12006600;12058067;12393862;12463424;12477932;12682046;14702039;14719095;15242783;15896713;16772875;16827870;17112471;18458692;18714391;19079262;19423540;19601835;19727588;20010835;20406964;20438785;20460109;20889312;21239057;21270819;23000965;23284291;23429442;24322204;8358434;9461614;9806848 8728 E5RIS2;H0YC66;Q8TBU7;Q9H013 ABBA01044269;ABBA01044270;AC008676;AC008694;AC106801;AF134707;AF311317;AF326918;AK091464;AK093535;AK308182;AL049415;AMYH02012553;AMYH02012554;BC024214;BC033132;CH471062;HY088077;NM_033274;XM_005266003;Y13786 AAF22162;AAG50282;AAH24214;AAH33132;AAI40324;AAK07852;BAG52367;CAC20585;EAW61595;EAW61596;EAW61597;EAW61598;NP_150377;Q9H013;XP_005266060 Hs.483944 1697526;1731140;1785364;1788740;1795296;2163180 ADAM19_1480;D5S378;RH102268;RH128156;RH48594;SHGC-112298 ADAM 19;FKSG34;MLTNB ADAM metallopeptidase domain 19 (meltrin beta);MADDAM;OTTHUMP00000160734;OTTHUMP00000224162;a disintegrin and metalloproteinase domain 19 (meltrin beta);disintegrin and metalloproteinase domain-containing protein 19;meltrin beta;meltrin-beta;metalloprotease and disintegrin dendritic antigen marker;metalloprotease-disintegrin meltrin beta APPROVED protein-coding ENSG00000135074 HGNC:197 04704 603640 REVIEWED 733223 ADAM15 ADAM metallopeptidase domain 15 The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 128094785 128106774 + 155023748 155035252 + 155051272 155062776 + 1559176;2325247;6480464;8554872 15818704;17465204 10527948;10531379;10652535;10828588;10842103;11741929;11839628;11840679;11882657;12091380;12243749;12477932;12615925;12777399;12858436;12897135;14707550;15263807;15280379;15358598;15384173;15489334;15618016;15756594;16189514;16303743;16374509;16756724;16894352;17080222;17416588;17575078;17937806;18281484;18296648;18387333;18434311;18695922;18774960;19054571;19207106;19253070;19487280;19550037;19718658;20189953;20213810;20851104;21190186;21196774;21728902;21906983;21963094;21987572;22268729;22505472;22544741;22621184;23000965;23365087;23535732;23688428;23910172;23918525;8617717;8889548;9016778;9039960;9516430;9914169 8751 Q13444 AB209157;ABBA01016720;AF314227;AK000667;AK075498;AK295614;AK296925;AK297468;AK308172;AL451085;AL691442;AMYH02001939;AW290953;AY518542;AY560593;AY560594;AY560595;AY560596;AY560597;AY560598;AY560599;AY560600;AY560601;AY576417;BC014566;BM971880;BT009764;NG_029667;NM_001261464;NM_001261465;NM_001261466;NM_003815;NM_207191;NM_207194;NM_207195;NM_207196;NM_207197;NR_048577;NR_048578;NR_048579;U41767;U46005 AAC50404;AAC51112;AAH14566;AAM44189;AAP88766;AAR99331;AAS48590;AAS48591;AAS48592;AAS48593;AAS48594;AAS48595;AAS48596;AAS48597;AAS72298;AAS72991;AAS72992;AAS72993;AAS72994;AAS72995;AAS72996;AAS72997;AAS72998;AAS72999;AAS73000;ABW03624;BAD92394;BAG52157;BAG59477;BAG59890;BAH12126;NP_001248393;NP_001248394;NP_001248395;NP_003806;NP_997074;NP_997077;NP_997078;NP_997079;NP_997080;Q13444 Hs.312098 2185149 RH66543 ADAM 15;MDC-15;MDC15 OTTHUMP00000015780;OTTHUMP00000033236;OTTHUMP00000231570;OTTHUMP00000231571;OTTHUMP00000231572;OTTHUMP00000231573;OTTHUMP00000231574;OTTHUMP00000231575;OTTHUMP00000231576;OTTHUMP00000231577;OTTHUMP00000231578;a disintegrin and metalloproteinase domain (adam) 15 (metargidin);a disintegrin and metalloproteinase domain 15 (metargidin);disintegrin and metalloproteinase domain-containing protein 15;metalloprotease RGD disintegrin protein;metalloproteinase-like, disintegrin-like, and cysteine-rich protein 15;metargidin APPROVED protein-coding ENSG00000143537 HGNC:193 05674 605548 REVIEWED 731400 ADAM17 ADAM metallopeptidase domain 17 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene functions as a tumor necrosis factor-alpha converting enzyme; binds mitotic arrest deficient 2 protein; and also plays a prominent role in the activation of the Notch signaling pathway. [provided by RefSeq, Jul 2008] 2 2 2 p25 9541264 9607791 - 9629392 9695917 - 9489263 9555788 - 1559178;1580863;1300253;2292150;2313250;2302204;2312470;2317976;5129489;5686834;5686846;6480464;6484113;6907045;8699517;7240710;8554872 12655295;15688065;15878627;17761886;19581416;19633828;20621845;21145125;22029668;9812885 10224132;10433800;10527948;10799478;10860581;10882063;11733179;11741929;11823465;11988096;12044879;12058067;12135369;12147693;12207026;12441351;12474981;12477932;12535668;12568494;12606576;12621058;12668732;12706122;12711607;12714588;12730960;12743035;12755693;12777399;12810728;12832423;12947092;12972643;14532978;14625290;14970227;15066987;15102849;15146197;15182369;15280379;15308656;15309730;15337756;15534001;15691827;15784625;15983030;16034137;16079149;16148149;16179345;16210695;16246259;16279945;16332693;16336275;16376986;16478662;16619241;16641105;16806063;16900751;16912185;16942750;16982746;17010968;17081983;17155946;17170699;17227756;17360351;17405915;17438092;17608729;17655843;17714581;17786981;17942404;17986144;17999917;18029348;18167350;18171982;18238782;18276953;18281553;18355445;18373975;18383040;18396294;18426733;18442814;18483258;18490652;18493210;18600307;18625725;18636124;18638486;18676862;18713734;18818406;18824549;18922903;18978678;18979631;19003995;19082505;19091752;19124506;19150341;19154693;19171023;19253070;19278423;19296470;19298600;19299578;19324423;19376560;19435795;19482949;19515085;19535569;19541935;19564338;19595713;19666115;19704010;19762488;19772640;19819120;19843672;19875451;19913121;19946888;19949420;19959661;20026129;20059578;20070837;20118276;20180536;20184396;20188673;20221248;20300049;20300969;20359533;20379614;20506406;20551051;20627730;20628086;20634891;20679348;20807704;20811902;20819075;20863729;20871631;20922190;21102583;21153921;21170088;21175594;21240579;21268712;21300824;21359495;21365281;21386996;21407195;21423656;21480393;21501859;21777519;21837402;21865167;21890473;21906983;21925169;21932060;21949123;22010916;22018416;22105359;22139867;22157716;22200661;22268729;22319627;22367719;22384041;22438584;22479555;22506015;22550340;22575642;22613720;22665490;22668812;22677042;22689693;22770404;22772468;22833676;22927435;22933306;22934512;22965144;22967992;23000965;23011796;23076445;23105116;23317503;23341882;23349873;23356982;23360525;23384719;23389772;23415892;23416080;23441135;23460612;23475633;23479224;23487023;23500026;23521534;23526433;23545805;23557259;23563789;23585341;23625205;23645517;23674691;23684931;23729230;23746173;23771674;23897050;23910172;24027752;24044434;24121505;24130797;24159190;24185966;24189063;24227843;24247244;24286866;24337742;24338472;24361716;24403253;24412389;24495306;24518602;24780186;24790088;24812125;24813629;24833351;24955855;8889548;9034190;9034191;9520379;9574564;9620803;9774383;9806848;9920899 6868 B2RNB2;E7EUI5;P78536 ABBA01015589;ABBA01015590;ABBA01015591;AC073195;AC080162;AC092206;AK289829;AMYH02003249;AMYH02003250;AY422721;BC062687;BC136783;BC146658;BM725368;BQ186514;BX339672;CH471053;CN258241;GQ402545;NG_029873;NM_003183;U69611;U69612;U86755;U92649 AAB51514;AAB51586;AAB53014;AAC39721;AAH62687;AAI36784;AAI46659;AAX93091;AAX93142;AAY14859;ACV30013;BAF82518;EAX00981;EAX00982;NP_003174;P78536 Hs.404914 1341332;1761889;1795294;2173627;5116962 ADAM17_1239;D15S981;RH70698;SHGC-145828;ha2389 ADAM18;CD156B;CSVP;MGC71942;NISBD;TACE ADAM 17;ADAM metallopeptidase domain 17 (tumor necrosis factor, alpha, converting enzyme);ADAM metallopeptidase domain 18;OTTHUMP00000115493;TNF-alpha convertase;TNF-alpha converting enzyme;TNF-alpha-converting enzyme;a disintegrin and metalloproteinase domain 17;disintegrin and metalloproteinase domain-containing protein 17;snake venom-like protease;tumor necrosis factor, alpha, converting enzyme APPROVED protein-coding ENSG00000151694 HGNC:195 04703 603639;614328 REVIEWED 69085 ADAM2 ADAM metallopeptidase domain 2 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 8 8 8 p11.2 38553126 38647899 - 39601254 39695808 - 39743735 39838289 - 1580863;68863;6480464;8554872 9358007 10518536;11784061;11882657;12477932;15489334;16049941;17023585;18292840;19951893;22926424;8702389;9041139;9070941;9889149 2515 B4DWY7;Q6P2G0;Q99965 ABBA01015910;AC136365;AC244257;AJ133005;AK301734;AMYH02017845;AP005902;BC034957;BC064547;BG719616;BI460477;CH471080;HC044539;NM_001278113;NM_001278114;NM_001464;U38805;U52370;X99374;XM_005273468;XM_006725119 AAC51110;AAD04206;AAH34957;AAH64547;ABM82541;ABM85733;BAG63199;CAA67753;CAB40813;CBH30599;EAW63273;EAW63274;EAW63275;NP_001265042;NP_001265043;NP_001455;Q99965;XP_005273525;XP_006725182 Hs.177959 1749951;2129898;2216984 ADAM2_2713;RH70674;SHGC-111659 ADAM 2;CRYN1;CRYN2;CT15;FTNB;PH-30;PH-30b;PH30;PH30-beta OTTHUMP00000225677;OTTHUMP00000225678;OTTHUMP00000225679;OTTHUMP00000225680;cancer/testis antigen 15;disintegrin and metalloproteinase domain-containing protein 2;fertilin beta;fertilin subunit beta APPROVED protein-coding ENSG00000104755 HGNC:198 03322 601533 REVIEWED 6482992 ADAM20P2 ADAM metallopeptidase domain 20 pseudogene 2 4 4 176495753 176497344 + 175574602 175576193 + 100533671 ABBA01070404;AC105925;AMYH02010545;NG_028850 pseudo HGNC:43901 INFERRED 6482940 ADAM20P3 ADAM metallopeptidase domain 20 pseudogene 3 4 4 4 q35.2 185977031 185979101 - 188667288 188669359 - 187746134 187748205 - 20210993;9847074 644325 ABBA01070581;AC115540;AMYH02010696;NG_023541 pseudo HGNC:43902 INFERRED 1345378 ADAM20 ADAM metallopeptidase domain 20 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene is testis-specific. [provided by RefSeq, Jul 2008] 14 14 14 q24.1 51053033 51065687 - 70989078 71022756 - 70522361 70556039 - 1580863;6480464 10524237;11807715;12477932;20467438;9469942 8748 O43506 AA400588;ABBA01030812;AF029899;AF158643;AL357153;AMYH02029450;AX704773;BC025378;CH471061;HC006766;HC044543;NM_003814;XM_005268151;XM_005268152 AAC52041;AAD55254;AAH25378;ABW03729;CAD88055;CBH19189;CBH30601;EAW81037;NP_003805;O43506;XP_005268208;XP_005268209 Hs.177984 1699656;1795298 ADAM20_695;RH103432 ADAM 20;OTTHUMP00000236151;a disintegrin and metalloproteinase domain 20;disintegrin and metalloproteinase domain-containing protein 20 APPROVED protein-coding ENSG00000134007 HGNC:199 04754 603712 REVIEWED 1345289 ADAM20P1 ADAM metallopeptidase domain 20 pseudogene 1 14 14 14 q24.2 50998968 51002976 - 70935593 70950473 - 70468876 70483756 - 10524237 317760 ABBA01030812;AF158638;AL357153;AMYH02029448;AMYH02029449;AMYH02029450;BC047939;NR_037933 Hs.188369 2113876 AB070079 C14orf55 APPROVED pseudo ENSG00000259158 HGNC:20102 VALIDATED 1350743 ADAM25 a disintegrin and metalloproteinase domain 25 11088 HGNC:204 1313949 ADAM23 ADAM metallopeptidase domain 23 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013] 2 2 2 q33 201069803 201244105 + 207308268 207485854 + 206443544 206621130 + 1580863;6480464;8554872 10524237;10749942;12477932;14697522;14702039;15146195;15146197;15862898;16094384;16103878;19089928;19322201;19477226;19549921;19824886;20379614;20851106;21429053;22688191;22937229;23898208;8619474;9110174;9693107 8745 E7EWD3;H7C2M6;O75077 AB009672;ABBA01062663;ABBA01062664;ABBA01062665;AC009225;AC010731;AC079136;AF052115;AF158641;AJ005580;AK091800;AK129906;AK296844;AMYH02005628;AMYH02005629;AMYH02005630;AMYH02005631;BC132763;BC132765;CH471063;CN399765;CS072966;H11006;NG_029874;NM_003812;R43984;XM_005246932 AAD55252;AAI32764;AAI32766;AAX93195;AAX93210;AAY14948;BAA32351;BAG59410;CAC20565;CAI93690;EAW70386;EAW70387;NP_003803;O75077;XP_005246989 Hs.370287;Hs.591643 1335061;1336370;1645687;1663684;1663686;1679553;1698426;1751877;1759149;2115774;2131993;2133603;2133605;2143839;2174283;2175156;2181415;2182623;2191107 A002R48;A005A43;A005P25;D2S369;D2S422;G20230;G20399;MARC_14763-14764:1032183956:1;RH102758;RH16640;RH66377;RH81077;SHGC-105851;SHGC-1663;SHGC-3215;SHGC-37606;SHGC-56733;SHGC-60293;WI-14343 ADAM 23;MDC-3;MDC3 OTTHUMP00000163840;OTTHUMP00000206523;a disintegrin and metalloproteinase domain 23;a disintegrin and metalloproteinase domain 23 (ADAM23);disintegrin and metalloproteinase domain-containing protein 23;metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3 APPROVED protein-coding ENSG00000114948 HGNC:202 04752 603710 REVIEWED 1314846 ADAM21 ADAM metallopeptidase domain 21 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene expression is testis-specific. [provided by RefSeq, May 2011] 14 14 14 q24.1 50988177 50990582 + 70918874 70926622 + 70452157 70459905 + 1580863;6480464;8554872 10524237;12477932;15489334;16344560;9469942 8747 Q9UKJ8 AA758110;ABBA01030812;AF029900;AF158644;AL357153;AL391223;AMYH02029448;BC109024;BC109025;CH471061;DB035527;NM_003813 AAC52042;AAD55255;AAI09025;AAI09026;EAW81035;NP_003804;Q9UKJ8 Hs.178748 1699658;1856613;2106413;2120887;5019809 A009X03;ADAM21_4034;G32933;RH103433;RH78730 ADAM 21;ADAM31;MGC125389 ADAM metallopeptidase domain 21, preproprotein;a disintegrin and metalloproteinase domain 21;disintegrin and metalloproteinase domain-containing protein 21 APPROVED protein-coding ENSG00000139985 HGNC:200 04755 603713 REVIEWED 1346763 ADAM21P1 ADAM metallopeptidase domain 21 pseudogene 1 14 14 14 q24.2 50776650 50778698 - 70712470 70714518 - 70245753 70247801 - 10524237;16520872 145241 ABBA01030818;AF158640;AL160191;AMYH02029442;DQ202398;NR_003951 ABA43715 Hs.712468 1699658 RH103433 ADAM21P a disintegrin and metalloproteinase domain 21 pseudogene APPROVED pseudo ENSG00000235812 HGNC:19822 VALIDATED 1352892 ADAM22 ADAM metallopeptidase domain 22 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010] 7 7 7 q21 82268261 82531056 + 87563566 87832204 + 87934251 88202889 + 1580863;6480464;8554872 10524237;11050470;12477932;12589811;12853948;14759258;15876356;15882968;16385342;16868027;16990550;17681454;17884303;18440780;18593599;18762889;19054571;20156119;20220021;20379614;21988832;22072566;23455922;23503679;23810013;24227725;9693107 53616 E7EPF1;E9PF78;F8WAD8;H7C0Q9;H7C3I4;Q08AL8;Q9P0K1 AB009671;ABBA01045860;ABBA01045861;ABBA01045862;ABBA01045863;AC004992;AC005075;AC005164;AF073291;AF155381;AF155382;AF158637;AF158642;AK125432;AK291010;AL133090;AMYH02016224;AMYH02016225;AMYH02016226;BC036029;BC062433;BC092465;BC125117;BC125118;CA429662;CH236949;CH471091;DR000609;NM_004194;NM_016351;NM_021721;NM_021722;NM_021723;XM_005250445;XM_006716028;XM_006716029 AAD55251;AAD55253;AAF22476;AAF73288;AAF73289;AAH36029;AAH62433;AAH92465;AAI25119;AAP21878;AAS07417;BAA32349;BAA32350;BAF83699;BAG54196;EAW76913;EAW76914;EAW76915;EAW76916;EAW76917;EAW76918;EAW76919;EAW76920;EAW76921;EAW76922;EAW76923;EAW76924;EAW76925;EAW76926;EAW76927;EAW76928;EAW76929;NP_004185;NP_057435;NP_068367;NP_068368;NP_068369;Q9P0K1;XP_005250502;XP_006716091;XP_006716092 Hs.256398 1681044;1681312;1691800;1696206;1712973;1713467;1795300;1856730;2146511;2183703 A002T31;ADAM22_1746;D7S1543;G42258;RH119592;RH120576;RH92490;RH93001;SHGC-79053;STS-N29801 ADAM 22;MDC2;MGC149832 OTTHUMP00000174585;OTTHUMP00000174587;OTTHUMP00000174588;OTTHUMP00000207170;OTTHUMP00000207298;a disintegrin and metalloproteinase domain 22;disintegrin and metalloproteinase domain-containing protein 22;metalloproteinase-disintegrin ADAM22-3;metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2 APPROVED protein-coding ENSG00000008277 HGNC:201 04751 603709 REVIEWED 1354292 ADAM26 a disintegrin and metalloproteinase domain 26 11087 HGNC:205 1346074 ADAM24P ADAM metallopeptidase domain 24, pseudogene INTERACTS WITH valproic acid (ortholog) 8 8 8 p22 16292793 16294947 + 17327027 17329181 + 17469518 17471672 + 6480464 10395895;23251661 646479 ABBA01021584;AC124074;AMYH02017533;AP006248;NG_022410 1705078;1719619 RH123714;SHGC-78062 ADAM24 APPROVED pseudo HGNC:203 INFERRED 1342886 ADAM29 ADAM metallopeptidase domain 29 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] 4 4 4 q34 173168616 173228548 + 175839509 175899331 + 174918358 174978180 + 1580863;6480464;8554872 10512762;10644455;12477932;15802535;16344560;19340428;21618342;23535729 11086 D6RBU0;D6RHU0;D6RIU9;Q9UKF5 ABBA01070397;AC105914;AF134708;AF171929;AF171930;AK292410;AMYH02010537;BC036070;BU176889;CH471056;DB039551;DB044176;DB051105;DB073142;DB078034;DB078125;DB078627;DB080702;HC006768;HC044545;NM_001130703;NM_001130704;NM_001130705;NM_001278125;NM_001278126;NM_001278127;NM_014269;XM_005262704;XM_005262705 AAF03777;AAF03778;AAF22163;AAI66695;AAY41055;BAF85099;CBH19190;CBH30602;EAX04727;EAX04728;NP_001124175;NP_001124176;NP_001124177;NP_001265054;NP_001265055;NP_001265056;NP_055084;Q9UKF5;XP_005262761;XP_005262762 Hs.126838 1774172 D4S515 CT73;svph1 ADAM 29;OTTHUMP00000218945;OTTHUMP00000218946;OTTHUMP00000218947;OTTHUMP00000218948;OTTHUMP00000218949;a disintegrin and metalloproteinase domain 29;cancer/testis antigen 73;disintegrin and metalloproteinase domain-containing protein 29;metallaproteinase-disintegrin (ADAM29) APPROVED protein-coding ENSG00000168594 HGNC:207 05306 604778 REVIEWED 1344462 ADAM4 a disintegrin and metalloproteinase domain 4 8758 HGNC:211 1350597 ADAM3A ADAM metallopeptidase domain 3A (pseudogene) INTERACTS WITH 5-fluorouracil; zinc atom; zinc(0) 8 8 p11.23 39308564 39380508 - 39451045 39522989 - 6480464 11439107;12477932;16344560;20210993;21138945;9502432;9693117 1587 ABBA01015913;ABBA01015914;ABBA01015915;ABBA01015916;ABBA01015917;ABBA01015918;AC106011;AC123767;AJ005372;AK302269;AK308250;BC025386;BC042979;BG717260;DB335796;DB447356;HY234081;NR_001569;NR_024106;NR_024107;NR_073423;X89654;X89655;X89656;X89657 BAG63615 Hs.98848 1732399 D8S563E ADAM3;CYRN1;tMDCI a disintegrin and metalloproteinase domain 3a (cyritestin 1) APPROVED pseudo ENSG00000197475 HGNC:209 VALIDATED 1347348 ADAM28 ADAM metallopeptidase domain 28 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. Alternative splicing results in two transcript variants. The shorter version encodes a secreted isoform, while the longer version encodes a transmembrane isoform. [provided by RefSeq, Jul 2008] 8 8 8 p21.2 23115137 23176304 + 24151553 24212726 + 24294040 24355213 + 1580863;6480464;8554872 10506182;10587367;10794709;11724793;12477932;12667064;12777399;15013428;16052521;17047053;17597069;18690470;19054571;19527685;19896699;20112342;20450360;20544843;20881960;20971063;21077327;21329817;21698479;21782798;21913264;22636800;23010875;23527725;23640157;23643150;24007880;24613731;8125298 10863 B4DDY3;E5RGY1;E5RJQ1;H0YBG8;H0YBQ8;Q9UKQ2 ABBA01005549;AC044891;AC120193;AF137334;AF137335;AI475787;AI624552;AJ242015;AK225921;AK293382;AK303437;AMYH02017626;BC136478;BC144140;CH471080;NG_029394;NM_014265;NM_021777;XM_005273378;XM_005273379;XM_005273380;XM_005273381;XM_005273382;XM_006716273;XM_006716274;XM_006716275;XR_247120 AAD25099;AAD25100;AAI36479;BAG56894;BAG64485;CAB42085;EAW63608;EAW63609;NP_055080;NP_068547;Q9UKQ2;XP_005273435;XP_005273436;XP_005273437;XP_005273438;XP_005273439;XP_006716336;XP_006716337;XP_006716338 Hs.174030 1777961 RH79000 ADAM 28;ADAM23;MDC-L;MDC-Lm;MDC-Ls;MDCL;eMDC II;eMDCII OTTHUMP00000224870;OTTHUMP00000224872;a disintegrin and metalloproteinase domain 28;disintegrin and metalloproteinase domain-containing protein 28;epididymal metalloproteinase-like, disintegrin-like, and cysteine-rich protein II;epididymial metalloproteinase-like, disintegrin-like, and cysteine-rich protein II;metalloproteinase-like, disintegrin-like, and cysteine-rich protein L;metalloproteinase-like, disintegrin-like, and cysteine-rich protein-L APPROVED protein-coding ENSG00000042980 HGNC:206 08391 606188 REVIEWED 1314448 ADAM30 ADAM metallopeptidase domain 30 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008] 1 1 1 p12 118666878 118669835 - 120436156 120439147 - 119893533 119896524 - 1580863;6480464;8554872 10512762;12477932;12975309;16710414;18372903;18591388;19862325;23128233 11085 Q8TBZ7;Q9UKF2 ABBA01068518;AF171932;AF171933;AK292483;AL359752;AMYH02001822;AY358734;BC028372;CH471122;HC006770;HC044499;NM_021794 AAF03780;AAF03781;AAH28372;AAQ89096;ABM81876;ABM85038;BAF85172;CBH19191;CBH30579;EAW56717;NP_068566;Q9UKF2 Hs.283011 1795302 ADAM30_207 svph4 ADAM 30;OTTHUMP00000014034;a disintegrin and metalloproteinase domain 30;disintegrin and metalloproteinase domain-containing protein 30 APPROVED protein-coding ENSG00000134249 HGNC:208 05307 604779 REVIEWED 1313212 ADAM33 ADAM metallopeptidase domain 33 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] 20 20 20 p13 3710486 3724619 - 3648620 3662755 - 3667973 3682131 - 1331525;1580863;4145379;4145380;4145383;4145361;4142862;4145382;4145358;4145359;4145360;4145357;4145378;6480464 15118671;15298558;16893396;17339047;17961406;18778489;19258923;19284602;19635592;19940503;20003279;20156753 11780052;11814695;12110844;12477932;12535637;12768445;12975309;14564349;14659745;14676211;14702039;14720258;14742294;15144468;15196271;15347848;15387895;15709049;15766253;15790980;15805180;15879414;15986064;16024651;16344560;16387804;16519819;16650044;16713569;16773130;16784537;16799089;16839403;17061022;17081983;17545039;17640346;17702965;17703412;17878941;18410963;18423563;18425216;18560587;18752037;18923449;19146844;19236319;19237393;19247692;19264973;19265133;19267929;19317339;19326508;19665773;19913121;19951440;19996348;20227692;20237496;20395963;20491578;20503287;20524005;20537279;20628086;20701904;20716621;21078624;21161400;21179102;21689380;21781516;21869474;21930123;22035178;22227561;22269827;22349453;22583515;22660217;22851202;22871616;22888638;22989201;23245479;23257708;23331525;23380143;23525950;23612257;23640557;23861802;23902466;24035932;24141861;24191661 80332 A2A2L3;Q9BZ11 AB055891;ABBA01053826;AF466287;AF466288;AF466289;AK092627;AK094070;AK095953;AK123015;AK126487;AK126498;AK226148;AK300429;AK304037;AL109804;AL117415;AL356755;AMYH02036599;AX082153;AY223850;AY223851;AY223852;AY223853;AY223854;AY223855;AY358314;BC062663;BC125112;BC125113;BX103461;CH471133;DB225158;DQ995342;NM_001282447;NM_025220;NM_153202;XM_005260843;XM_005260851;XM_006723632;XM_006723633;XM_006723634;XM_006723635;XM_006723636;XM_006723637;XM_006723638;XM_006723639;XM_006723640;XM_006723641;XM_006723642;XM_006723643;XM_006723644;XM_006723645 AAH62663;AAI25113;AAI25114;AAM80482;AAM80483;AAM80484;AAP15439;AAP15440;AAP15441;AAP15442;AAP15443;AAP15444;AAQ88680;ABI97387;BAB83092;BAC04660;BAG62155;BAG64948;CAC33154;EAX10519;EAX10520;EAX10521;EAX10522;EAX10523;EAX10524;EAX10525;EAX10526;NP_001269376;NP_079496;NP_694882;Q9BZ11;XP_005260900;XP_005260908;XP_006723695;XP_006723696;XP_006723697;XP_006723698;XP_006723699;XP_006723700;XP_006723701;XP_006723702;XP_006723703;XP_006723704;XP_006723705;XP_006723706;XP_006723707;XP_006723708 Hs.173716 1793112;1793114;1793116;1793118;2113516 ADAM33_V312;PMC196627P1;PMC196627P2;PMC196627P3;PMC196627P4 C20orf153;DJ964F7.1;DKFZp434K0521;FLJ35308;FLJ36751;MGC149823;MGC71889 ADAM 33;OTTHUMP00000030126;OTTHUMP00000161030;a disintegrin and metalloprotease 33;a disintegrin and metalloproteinase domain 33;disintegrin and metalloproteinase domain-containing protein 33;disintegrin and reprolysin metalloproteinase family protein APPROVED protein-coding ENSG00000149451 HGNC:15478 06173 607114 REVIEWED 1345583 ADAM32 ADAM metallopeptidase domain 32 ENCODES a protein that exhibits metalloendopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 8 8 8 p11.22 37916690 38094247 + 38965050 39142436 + 39107531 39284917 + 1580863;6480464 12477932;12568724;12975309;15340161;15489334;17081983;20379614 203102 E3W988;E5RGK7;E5RJE6;E5RJY7;E7EPX8;E7ER82;Q8TC27 AB209690;ABBA01015931;AC105091;AC105185;AC245594;AK122608;AK129810;AK131038;AK300148;AK313864;AMYH02017844;AY172952;AY358739;BC026085;BC026169;BC028702;BC030014;BC030698;BC034975;BI559590;CH471080;NM_145004;XM_006716298;XM_006716299;XM_006725117;XM_006725118;XR_430696 AAH26085;AAH26169;AAH28702;AAH30014;AAH30698;AAH34975;AAO45696;AAQ89099;ABM81836;ABM84987;BAC85238;BAC85489;BAD92927;BAG36592;BAG61934;EAW63282;NP_659441;Q8TC27;XP_006716361;XP_006716362;XP_006725180;XP_006725181 Hs.521545 1342131;1673158;1717567 D10S1761;G32133;RH122088 FLJ26299;FLJ29004 ADAM 32;OTTHUMP00000225774;OTTHUMP00000225834;OTTHUMP00000226015;a disintegrin and metalloprotease domain 32;a disintegrin and metalloproteinase domain 32;disintegrin and metalloproteinase domain-containing protein 32;metalloproteinase 12-like protein protein-coding ENSG00000197140 HGNC:15479 16475 VALIDATED 1352596 ADAM3B ADAM metallopeptidase domain 3B (pseudogene) 16 16 16 q12.1 34064812 34065518 - 49551557 49552263 - 49517646 49518352 - 11439107;9284909;9502432;9693117 1596 O00504 ABBA01000891;AC007861;AMYH02031998;NG_001526;NG_032972;Y10615 CAA71622 CYRN2 ADAM metallopeptidase domain 3B (cyritestin 2);a disintegrin and metalloproteinase domain 3b (cyritestin 2) APPROVED pseudo HGNC:210 INFERRED 1353792 ADAM5 ADAM metallopeptidase domain 5, pseudogene ENCODES a protein that exhibits metalloendopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog); cadmium dichloride (ortholog) 8 8 8 p11.22 38123987 38226669 + 39172182 39274745 + 39314663 39417226 + 632496;6480464 8786143 10417343;12477932;20210993;22797925 255926 Q6NVV9 ABBA01015925;ABBA01015926;ABBA01015927;ABBA01015928;ABBA01015929;ABBA01015930;ABBA01015931;AC105185;AC106011;AC245062;AC245594;AJ132820;AJ132821;AJ132822;AJ132823;AJ132824;AJ132825;AJ132826;AJ132827;BC026083;BC047448;BC057230;BC067864;NR_001448 Q6NVV9 Hs.369765 1705110;1758149 SHGC-147525;SHGC-79975 ADAM5P;TMDCII tmdc ii APPROVED pseudo ENSG00000196115 HGNC:212 PROVISIONAL 1351124 ADAM6 ADAM metallopeptidase domain 6, pseudogene INTERACTS WITH dibutyl phthalate (ortholog); valproic acid (ortholog) 14 14 14 q32.33 86366419 86368958 - 106435819 106438358 - 105969729 105972269 - 6480464 14702039;16162398;16344560;9841928 8755 AA609214;AB019441;ABBA01074086;AC246787;AI024595;AK093400;DB059945;NG_001019;NR_002224 BAG52709 Hs.662288 1686202 RH98683 C14orf96;tMDCIV a disintegrin and metalloproteinase domain 6 APPROVED pseudo ENSG00000271968 HGNC:213 VALIDATED 736113 ADAM7 ADAM metallopeptidase domain 7 This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011] 8 8 8 p21.2 23262089 23329678 + 24298509 24370273 + 24440996 24512760 + 1580863;6480464;8554872 11514362;12037602;12477932;12514095;16344560;21618342;23218918 8756 C9JK28;E5RK87;Q9H2U9 ABBA01005549;AC024958;AC120193;AF090327;AF215824;AK292492;AMYH02017627;BC043207;BC058037;CH471080;DB077360;NM_003817;XM_005273668;XM_005273669;XM_005273670;XM_005273671;XM_005273672;XM_005273673 AAC36742;AAG43987;AAH43207;AAH58037;AAI41423;AAI48736;BAF85181;EAW63606;NP_003808;Q9H2U9;XP_005273725;XP_005273726;XP_005273727;XP_005273728;XP_005273729;XP_005273730 Hs.116147 1672379;5094817 D8S481;TTA024 ADAM 7;ADAM-7;EAPI;GP-83;GP83 OTTHUMP00000123543;OTTHUMP00000123544;a disintegrin and metalloprotease domain 7;a disintegrin and metalloproteinase domain 7;disintegrin and metalloproteinase domain-containing protein 7;epididymal apical protein I;sperm maturation-related glycoprotein GP-83 APPROVED protein-coding ENSG00000069206 HGNC:214 07391 607310 REVIEWED 1343050 ADAM8 ADAM metallopeptidase domain 8 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009] 10 10 10 q26.3 128426024 128440474 + 135075920 135090489 - 133262416 133276903 - 1298587;1580863;2325243;2325244;5128874;4145380;5128878;5128872;6480464;8554872 17339047;17979891;19373511;19625177;20194813;9126482;9670863 10354553;12135759;12477932;12777399;15220135;15574124;15623614;16344560;16385451;17548643;18397961;18566576;18682798;18691140;18710625;18811590;19284887;19397475;19469654;19575316;19601829;19714641;19766586;20453887;20628624;21077325;21640993;21679521;21728902;21983884;22215309;22229154;22878099;22941466;22959284;22965687;23670189;24247244;24526468 101 H0YKZ1;H0YMT6;P78325;Q14C66 ABBA01006208;ABBA01006209;AK301147;AK304324;AK310662;AK312834;AL592071;AMYH02024089;AMYH02024090;BC064500;BC115404;BI908229;BM144968;BM146234;BQ007791;CH471211;CR997306;CS174020;D26579;DA936506;DB142906;DC401057;DC408787;KF455298;NM_001109;NM_001164489;NM_001164490;XM_005252655;XM_005252656 AAI15405;BAA05626;BAG35688;BAG62738;BAH14159;CAJ34536;EAW61325;EAW61326;NP_001100;NP_001157961;NP_001157962;P78325;XP_005252712;XP_005252713 Hs.501574 1675794;2216986 ADAM8_1412;RH80752 ADAM 8;CD156;CD156a;MGC134985;MS2 a disintegrin and metalloproteinase domain 8;cell surface antigen MS2;disintegrin and metalloproteinase domain-containing protein 8;human leukocyte differentiation antigen APPROVED protein-coding ENSG00000151651 HGNC:215 03777 602267 REVIEWED 1320430 ADAMDEC1 ADAM-like, decysin 1 This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008] 8 8 8 p21.2 23205384 23227107 + 24241798 24263526 + 24384285 24406013 + 1580863;6480464;8554872 11673514;12037602;12477932;14632642;15489334;16335952;18449420;19218196;23754285;9271581 27299 B7Z6V5;E5RK05;O15204 ABBA01005549;AC120193;AK300959;AK301007;AK311528;AK316320;AK316322;AMYH02017627;BC069582;BC074877;BC074878;CH471080;DC387711;NM_001145271;NM_001145272;NM_014479;XR_428306;Y13323 AAH69582;AAH74877;AAH74878;BAH13381;BAH13391;BAH14691;BAH14693;CAA73764;EAW63607;NP_001138743;NP_001138744;NP_055294;O15204 Hs.521459 1795304;2112346 ADAMDEC1_1286;D8S2210 FLJ79219;M12.219 ADAM DEC1;ADAM-like protein decysin-1;OTTHUMP00000123542;OTTHUMP00000224959;a disintegrin and metalloproteinase domain-like protein decysin-1;decysin;disintegrin protease APPROVED protein-coding ENSG00000134028 HGNC:16299 07070 606393 VALIDATED 1314467 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 8503796 8534269 - 8645124 8675588 - 8580240 8610753 - 1580863;6480464;7240710;8554872;8699517 11167130;11941487;12477932;14598350;15094112;15146197;15203218;15355968;15358598;15368195;18391951;18567016;19696795;19836009;20301293;20881960;21402694;21900206;23074332;23422823 81794 M0QY12;M0QY36;Q59FE5;Q6ZN14;Q9H324 AB209515;ABBA01010833;ABBA01010834;ABBA01010835;AC092315;AC130469;AC243312;AF163762;AK131414;AMYH02035445;BC029308;BF510205;BF588726;BI822988;BM928283;BX461830;CD632934;CD632956;CD632974;CH471139;CN431169;NG_011840;NM_001282352;NM_030957;XM_005272499;XM_005272500;XM_006722916;XM_006722917;XR_430156;XR_430157 AAG35563;BAD18561;BAD92752;EAW68907;EAW68908;NP_001269281;NP_112219;Q9H324;XP_005272556;XP_005272557;XP_006722979;XP_006722980 Hs.657508 1338823;1783824;2134345;2138135 D19S906;RH66060;SHGC-154249;STS-Z41090 ADAM-TS 10;ADAM-TS10;ADAMTS-10;WMS;WMS1 A disintegrin and metalloproteinase with thrombospondin motifs 10;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10;zinc metalloendopeptidase APPROVED protein-coding ENSG00000142303 HGNC:13201 07470 277600;608990 REVIEWED 1323132 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 9 q34 106830032 106875101 + 136279459 136324525 + 133414339 133459403 + 1598737;1580863;6480464;7240710;8554872;8699517 16689760 11167130;11230166;11535494;11535495;11557746;11574066;11586344;11586351;11843286;11867212;11920264;12038781;12084165;12091044;12091372;12130486;12172456;12181489;12195022;12223999;12393397;12393399;12393505;12395148;12477932;12576319;12614216;12615692;12640381;12753286;12775718;12791682;12855569;12869506;12871390;12871391;12923577;12975309;12975358;14512308;14512317;14525793;14563640;14644076;14727254;14727255;14727256;14727257;14727259;14727263;14962303;14976043;15009458;15009467;15126318;15164053;15175818;15182579;15249683;15327386;15388580;15521921;15583740;15692254;15710227;15711742;15774619;15774620;15809291;15824096;15842379;15855280;15865866;15886321;15890682;15975930;16102037;16113782;16141351;16160007;16189276;16203734;16221672;16286459;16322474;16335952;16344560;16391894;16449289;16453338;16468327;16597588;16634765;16755777;16794526;16796708;16807643;16894459;16899464;16953270;16990571;17003922;17030346;17053057;17087728;17121983;17229645;17294528;17296575;17395589;17725738;17764538;17768109;17849048;17901248;17922807;17928530;17988227;18031293;18166799;18175284;18194418;18223285;18240172;18263586;18327408;18332284;18433458;18443791;18449422;18492805;18492952;18502798;18521503;18581589;18609162;18665921;18725999;18756543;18801485;18833927;18835837;18940312;18981290;18983500;18988930;18996572;19027144;19041237;19047683;19054323;19055667;19069166;19109562;19116307;19162307;19190804;19190805;19190814;19234142;19253359;19260037;19270304;19389207;19422343;19422532;19427680;19439298;19492149;19506365;19541819;19574655;19584892;19587373;19644711;19654870;19682236;19718479;19729451;19765208;19765212;19809308;19812385;19822897;19847791;19880749;19897584;19944670;19996632;20032502;20054668;20058209;20062916;20075158;20141578;20201926;20307901;20390223;20553378;20605782;20624874;20647566;20664912;20682599;20695979;20704649;20705333;20734064;20923926;20946172;20958794;21077328;21103662;21136020;21196718;21238935;21275971;21350095;21385852;21479334;21488199;21512165;21535387;21573942;21605335;21606162;21676167;21705658;21712537;21715306;21720563;21732076;21779388;21781265;21799176;21843064;21896483;21901237;22070827;22075512;22110247;22163125;22168261;22192749;22205175;22289888;22289891;22298244;22314603;22324373;22370688;22398507;22431572;22466813;22529288;22529289;22627385;22627470;22672482;22685231;22703881;22707719;22768050;22781599;22783805;22854959;22915644;22922961;23020229;23041092;23058857;23073062;23141846;23144461;23225307;23233642;23266519;23267103;23346910;23411128;23415418;23433535;23443151;23446343;23481506;23494361;23523588;23524258;23554033;23621748;23636243;23648131;23677910;23682841;23683325;23715102;23729372;23733198;23847193;23878316;24106205;24186313;24250222;24338607;24351199;24357063;24386898;24401653;24406064;24433405;24449821;24550384;24558203;8639781;8639782 11093 B3KWF7;E7EV88;Q76LX8 AB069698;ABBA01032457;ABBA01032458;AF414400;AF414401;AJ011374;AJ305314;AJ420810;AJ420811;AK124983;AK292439;AL136809;AL158826;AL593848;AMYH02021830;AMYH02021831;AMYH02021832;AV655072;AW197188;AY055376;AY358118;AY532929;AY532930;AY532931;AY532932;BC034404;BC039251;BC103828;BC103829;BC103830;CH471090;DB069518;DQ422807;NG_011934;NM_139025;NM_139026;NM_139027;NR_024514 AAI72369;AAL11094;AAL11095;AAL17652;AAQ88485;AAS54901;AAS54902;AAS54903;AAS54904;ABD72606;BAB69487;BAF85128;BAG54119;CAB66157;CAB66743;CAC83682;CAD12729;CAD12730;CAI12850;CAI12851;CAI12852;EAW88083;EAW88084;EAW88085;EAW88086;EAW88087;EAW88088;NP_620594;NP_620595;NP_620596;Q76LX8 Hs.131433 2216988 ADAMTS13_3006 13;ADAM-TS;ADAM-TS 13;ADAM-TS13;ADAMTS-13;C9orf8;DKFZp434C2322;FLJ42993;MGC118899;MGC118900;TTP;VWFCP;vWF-CP A disintegrin and metalloproteinase with thrombospondin motifs 13;OTTHUMP00000022496;OTTHUMP00000022497;OTTHUMP00000022498;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13;vWF-cleaving protease;von Willebrand factor-cleaving protease APPROVED protein-coding ENSG00000160323 HGNC:1366 04994 274150;604134 REVIEWED 1321127 ADAM9 ADAM metallopeptidase domain 9 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010] 8 8 8 p11.22 37806051 37914424 + 38854505 38962780 + 38996986 39105261 + 1580863;2317976;2325246;2325247;2325249;1559151;6480464;7240710;8554872;8699517 14997207;15688065;15950787;17465204;19473694 10527948;10531379;11162558;11581183;11831872;11882657;11955914;12054541;12135759;12477932;12484779;12535668;12767059;15205330;15280379;15361064;15856464;16311053;16336960;16806063;17018608;17081983;17342749;17704059;18061337;19003995;19237226;19253070;19394555;19409519;19505527;19543729;19564338;20388695;20422344;20672324;20736367;21135106;21139048;21906983;21956108;21963094;21987572;22064652;22480688;23000965;23106877;23342005;23405089;23429442;23437250;23499592;23857158;24457600;24770635;24823697;7584026;7584028;8647900;8809033;9016778;9857183;9920899 8754 A0AVL1;C9J6H5;C9JPM3;F8WC54;Q13443 ABBA01015931;ABBA01015932;ABBA01015933;AC105091;AC108863;AF495383;AK293257;AMYH02017843;AMYH02017844;AV708278;BC027996;BC126406;BC143923;BC143924;CH471080;D14665;NG_016335;NM_003816;NR_027638;NR_027639;NR_027878;U41766 AAC50403;AAI26407;AAI43924;AAM49575;BAA03499;BAG56789;EAW63283;EAW63284;EAW63285;NP_003807;Q13443 Hs.591852 1678315;2149315 RH17377;RH25259 ADAM 9;CORD9;KIAA0021;MCMP;MDC9;Mltng ADAM metallopeptidase domain 9 (meltrin gamma);OTTHUMP00000216481;OTTHUMP00000216484;OTTHUMP00000216485;OTTHUMP00000216486;cellular disintegrin-related protein;cone rod dystrophy 9;disintegrin and metalloproteinase domain-containing protein 9;metalloprotease/disintegrin/cysteine-rich protein 9;myeloma cell metalloproteinase APPROVED protein-coding ENSG00000168615 HGNC:216 04091 602713;612775 REVIEWED 1316449 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008] 5 5 5 q35 33408303 33780613 - 33523640 33892319 - 33527181 33892019 - 1580863;6480464;8554872 10737800;11167130;11279086;12477932;12975309;14702039;15489334;16611630;17081983;17895370;18485748;19098927;19151918;19638407;20379614;20400778;21494557;21559743;22247065;22322903;22505177;22990015;23019333 81792 D6REX0;P58397 ABBA01066753;ABBA01066754;ABBA01066755;ABBA01066756;ABBA01066757;ABBA01066758;ABBA01066759;ABBA01066760;AC008880;AC034232;AC091841;AC109491;AC139777;AJ250725;AK001058;AMYH02011142;AMYH02011143;AMYH02011144;AW938686;AY358745;BC058841;BC131733;BC139900;CH471118;NM_030955 AAH58841;AAI31734;AAI39901;AAQ89105;CAC20419;EAX10808;EAX10809;NP_112217;P58397 Hs.12680 1334885;1341667;1670902;1682479;1685694;1687514;1708310;1709088;1714121;1722723;1728033;1764717;1765159;1765529;1766601;7186228;7186236;7187544 D5S1506;D5S2062;D5S674;G60449;G63287;RH119668;RH41190;RH79828;RH94238;SHGC-148307;SHGC-148675;SHGC-149004;SHGC-149910;SHGC-79414;SHGC-85695 PRO4389 A disintegrin and metalloproteinase with thrombospondin motifs 12;ADAM-TS 12;ADAM-TS12;ADAMTS-12;OTTHUMP00000221211;OTTHUMP00000221212;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 APPROVED protein-coding ENSG00000151388 HGNC:14605 05862 606184 REVIEWED 736845 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008] 21 21 21 q21.2 13391944 13401066 - 28208606 28217728 - 26836287 26845409 - 1580863;6480464 10094461;10373500;10438512;10718198;10785405;10811842;10830953;10930576;11278559;11831030;12054626;12054629;12477932;12716911;12907688;14702039;14760803;14996435;15184385;15599946;15661359;15878613;15967414;16061471;16314835;16328961;16495931;16641089;16675485;17167179;17560840;17897672;17975119;18076023;18174457;18192475;18775505;19007777;19010931;19023099;19027488;19349275;19404339;19608765;19615732;19915008;20103648;20484033;20546609;20655981;20795945;20840749;21037509;21345877;21890473;21937160;22383695;22562232;22735305;22776012;23001403;23289900;23443559;23681936;23859810;24631293;24646063;8995297;9593739 9510 E5RI60;E5RJR7;H7C206;Q8NE26;Q9UHI8 AB037767;ABBA01057223;AF060152;AF170084;AF207664;AK023795;AK129873;AK314475;AL162080;AMYH02037665;AP001598;AP001599;AP001697;AW163724;BC036515;BX647388;CH471079;DQ108407;NM_006988 AAD48080;AAF15317;AAF23772;AAH36515;AAZ73034;ABM87764;ABW03905;BAA92584;BAA95502;BAC85245;BAG37080;CAB82413;CAI46043;EAX09951;EAX09952;NP_008919;Q9UHI8 Hs.643357 1795306;2127761;2171743;2171745;2172923;2175271;2190907;5092708 A005R14;ADAMTS1_209;D21S1964;D21S2033;G32278;MARC_10651-10652:1000474642:1;SHGC-51859;STS-R76276 ADAM-TS 1;ADAM-TS1;ADAMTS-1;C3-C5;KIAA1346;METH-1;METH1 A disintegrin and metalloproteinase with thrombospondin motifs 1;OTTHUMP00000096354;a disintegrin and metalloproteinase with thrombospondin motifs 1 (adamts-1);a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1;human metalloproteinase with thrombospondin type 1 motifs APPROVED protein-coding ENSG00000154734 HGNC:217 05530 605174 REVIEWED 1318933 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. This gene is highly similar to two family members, ADAMTS2 and ADAMTS3, in its sequence and gene structure, and the encoded protein shares the aminoprocollagen peptidase activity with the protein products encoded by ADAMTS2 and ADAMTS3. Various transcript variants of this gene have been identified. They result from the use of two different promoters and transcription initiation sites as well as alternative splicing sites. The full length nature of some transcripts has not been defined. [provided by RefSeq, Jul 2008] 10 10 10 q21 65714785 65804152 + 72432559 72522197 + 70672803 70762441 + 1580863;6771189;6771190;6480464;8554872 15913795;18790654 11741898;11779638;11867212;16385451;19851299;20378664;20379614;21254220;22205175;23491141;23728906 140766 Q8WXS8 ABBA01019633;ABBA01019634;ABBA01019635;AF358666;AF366351;AJ345098;AK128469;AL355344;AL358817;AMYH02023294;AMYH02023295;AMYH02023296;CH471083;NM_080722;NM_139155 AAI40264;AAL40229;AAL79814;CAC87943;EAW54409;EAW54410;NP_542453;NP_631894;Q8WXS8 Hs.352156 1336739;1797264;2165447 ADAMTS14_2587;D10S1685;RH17783 FLJ32820 A disintegrin and metalloproteinase with thrombospondin motifs 14;ADAM-TS 14;ADAM-TS14;ADAMTS-14;OTTHUMP00000019762;OTTHUMP00000019763;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14;metalloprotease-disintegrin protease APPROVED protein-coding ENSG00000138316 HGNC:14899 06329 607506 REVIEWED 1320284 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the proteins encoded by ADAMTS1 and ADAMTS8. [provided by RefSeq, Jul 2008] 11 11 11 q25 127487765 127515431 + 130318869 130346539 + 130448974 130476644 + 1580863;6480464;8554872 11867212;12477932;15489334;15599946;16152618;19458070;20590445;23233679;24024966 170689 Q8TE58 ABBA01023042;AJ315733;AK130067;AMYH02025789;AMYH02025790;AMYH02025791;AP002986;AP003459;BC109114;CH471065;NM_139055;XM_005271419;XM_006718773 AAI09115;CAC86014;EAW67786;EAW67787;NP_620686;Q8TE58;XP_005271476;XP_006718836 Hs.534221 1645567;1689548;1737027;1737843;1737853;1757641 D11S2776;D11S3451;D11S3457;RH47034;RH81015;SHGC-145973 MGC126403 A disintegrin and metalloproteinase with thrombospondin motifs 15;ADAM-TS 15;ADAM-TS15;ADAMTS-15;OTTHUMP00000230651;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15, preproprotein;metalloprotease disintegrin 15 with thrombospondin domains APPROVED protein-coding ENSG00000166106 HGNC:16305 06330 607509 REVIEWED 8698736 ADAMTS19-AS1 ADAMTS19 antisense RNA 1 q23.3 16344560 103689846 AC106781;DA728271;NR_125748 Hs.628635 ncrna HGNC:40797 VALIDATED 1353739 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by gene ADAMTS16, another family member. It is thought to function as a tumor suppressor. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 16 16 16 q23 61613574 61766657 - 77316025 77469011 - 77282128 77435114 - 1580863;6480464;8699517;7240710;8554872 11867212;12477932;14702039;15489334;16507336;17546048;18398821;19218546;19249006;19806480;19844255;20164292;20379614;21047771;21862674;22425255;23356391;23648065;23818446;8889548 170692 B4DEX3;H3BMG1;H3BTZ3;Q2VYF7;Q6ZN25;Q8TE60 ABBA01017034;ABBA01017035;ABBA01017036;AC009139;AC010548;AC025284;AF086229;AI792764;AJ311903;AK122677;AK131403;AK293831;AMYH02032426;AMYH02032427;AMYH02032428;AY172951;BC063283;BM684970;CH471114;NG_031879;NM_199355;XM_006721156;XM_006721157;XM_006721158 AAH63283;AAO45695;BAC85503;BAD18550;BAG57234;CAC83612;EAW95598;EAW95599;EAW95600;EAW95601;EAW95602;NP_955387;Q8TE60;XP_006721219;XP_006721220;XP_006721221 Hs.188746 1339054;1700678;1709484;1728075;1789184;2149700 D16S3097;D16S782;G63308;G65591;RH103962;SHGC-81796 ADAMTS21;KNO2;MMCAT A disintegrin and metalloproteinase with thrombospondin motifs 18;ADAM-TS 18;ADAM-TS18;ADAMTS-18;OTTHUMP00000174960;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 21;disintegrin and metalloprotease-like protein APPROVED protein-coding ENSG00000140873 HGNC:17110 06333 607512;615458 REVIEWED 1318756 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by ADAMTS19, another family member. The function of this protein has not been determined. [provided by RefSeq, Jul 2008] 15 15 15 q24 76928247 77297865 - 100511643 100882183 - 99971438 100341978 - 1580863;6480464;7240710;8554872;8699517 11867212;14702039;16344560;18391951;19266077;19836009;20200978;20546612;20881960;21037509;21145461;21555518;22486325;23563607;23661674;23727862;24940034 170691 H0YMH1;H3BRA9;H3BV94;Q8TE56 AA884550;ABBA01020541;ABBA01020542;ABBA01020543;ABBA01020544;ABBA01020545;ABBA01020546;ABBA01020547;AC015723;AC022710;AC084855;AC113187;AJ315735;AK057331;AK057529;AK131344;AMYH02031156;AMYH02031157;AMYH02031158;CH471101;DB279404;DQ217943;KC877578;KF456126;NG_016287;NM_139057;XM_005254872 AAI52746;ABB70740;BAD18500;CAC86016;EAX02261;EAX02262;EAX02263;EAX02264;NP_620688;Q8TE56;XP_005254929 Hs.513200 1675169;1687249;1721793;1738959;1750001;1755309;1760831;1763385;1779560;2127050;2132341;2133126;2137988;5094274 D15S1294;D15S858;D15S929;D15S934;G09513;G09795;G54680;G59767;RH80915;SHGC-111703;SHGC-142197;SHGC-144491;SHGC-147106;SHGC-153531 FLJ16363;FLJ32769 A disintegrin and metalloproteinase with thrombospondin motifs 17;ADAM-TS 17;ADAM-TS17;ADAMTS-17;OTTHUMP00000194818;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17 APPROVED protein-coding ENSG00000140470 HGNC:17109 06332 607511;613195 REVIEWED 1321433 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 5 5 5 qter 174165082 174399060 - 178537852 178772431 - 179110851 179345430 - 1598739;1580863;6480464;7240710;8699517;8554872 10417273 10094461;10464288;11076863;11167130;11741898;11788898;12477932;14730609;15146197;15373769;16046392;16344560;18624398;18937294;20574651;22205175;22589738;22990015;23867815;7735500 9509 O95450 ABBA01010012;ABBA01010013;ABBA01010014;ABBA01010015;ABBA01010016;ABBA01010017;AC008470;AC008544;AC010216;AC016557;AC034202;AC109479;AI417257;AJ003125;AK308213;AMYH02012871;AMYH02012872;AMYH02012873;BC098581;BU629258;BX479109;BX537606;CA445758;CH471165;CN305044;CO247372;DA928965;KF458071;NG_023212;NM_014244;NM_021599 AAI11460;CAA05880;EAW53815;EAW53816;NP_055059;NP_067610;O95450 Hs.23871 1659727;1686152;1732629;1756301;1780756;1780814;1787934;2141587;2147657;2164738;2186665 D5S1382;G09291;RH12250;RH44368;RH44727;SGC33801;SHGC-143243;SHGC-155422;WI-10789;bac51964S;bac52194T ADAM-TS 2;ADAM-TS2;ADAMTS-2;ADAMTS-3;DKFZp686F12218;NPI;PC I-NP;PCI-NP;PCINP;PCPNI;hPCPNI;pNPI A disintegrin and metalloproteinase with thrombospondin motifs 2;OTTHUMP00000161523;OTTHUMP00000224422;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2;procollagen I N-proteinase;procollagen I/II amino propeptide-processing enzyme;procollagen N-endopeptidase APPROVED protein-coding ENSG00000087116 HGNC:218 05173 225410;604539 REVIEWED 1318082 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008] 5 5 5 q23.3 124927090 125204740 + 128796103 129074376 + 129460410 129738683 + 1580863;6480464;8554872 11867212;19508998;22445761;23251661;23333304;24014609 171019 D6R9M2;H0Y8Y0;Q8TE59 ABBA01068850;ABBA01068851;ABBA01068852;ABBA01068853;AC008425;AC008528;AC008591;AC106781;AC129713;AI366752;AJ311904;AK122622;AK128729;AMYH02012175;AMYH02012176;AMYH02012177;AMYH02012178;AMYH02012179;AMYH02012180;AMYH02012181;AW473680;CH471062;NM_133638 AAI56493;BAG53626;CAC84565;EAW62381;EAW62382;EAW62383;EAW62384;EAW62385;NP_598377;Q8TE59 Hs.23751 1342032;1652236;1673641;1676472;1695188;1776661;1780482;1780626;1785722;2132610;2216990;5093654 A009U23;ADAMTS19_2956;D5S1614E;D5S1841;D5S809;G32845;G48235;RH91157;SHGC-80086;STS-R86261;bac5006S;bac51428S FLJ16042 A disintegrin and metalloproteinase with thrombospondin motifs 19;ADAM-TS 19;ADAM-TS19;ADAMTS-19;OTTHUMP00000159239;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 APPROVED protein-coding ENSG00000145808 HGNC:17111 06334 607513 REVIEWED 1320722 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS18, another family member. [provided by RefSeq, Jul 2008] 5 5 5 p15 5166758 5346634 + 5140443 5320412 + 5140330 5320299 + 1580863;6480464;8554872 11867212;14702039;16507336;17519324;19423552;19635554;20379614;22562232;24039173 170690 Q2XQZ0;Q8TE57 AB095949;ABBA01016132;ABBA01016133;ABBA01016134;ABBA01016135;AC010269;AC022424;AC091978;AJ315734;AK122980;AK127746;AM983533;AMYH02010796;AMYH02010797;CH471102;DQ266047;FJ515844;KF457852;NM_139056 AAI40298;ABB70405;ACS13738;BAC23125;BAG53830;BAG54564;CAC86015;CAQ42983;EAX08117;EAX08118;EAX08119;EAX08120;NP_620687;Q8TE57 Hs.661915 1658742;1705394;1727817;1769011;1773590;2071048;2128485;2145140;2145142;2175582;2175584 A005Z07;A006A39;AFM198yb2;D5S1921;G20614;G20661;G63174;L28417;L31467;REN106716;SHGC-83559 ADAMTS16s;FLJ16731 A disintegrin and metalloproteinase with thrombospondin motifs 16;ADAM-TS 16;ADAM-TS16;ADAMTS-16;OTTHUMP00000220539;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16 APPROVED protein-coding ENSG00000145536 HGNC:17108 06331 607510 REVIEWED 1346398 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. It is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The cleavage of aggrecan and brevican suggests key roles of this enzyme in arthritic disease and in the central nervous system, potentially, in the progression of glioma. [provided by RefSeq, Jul 2008] 1 1 1 q21-q23 134226690 134235997 - 161159538 161168845 - 161189748 161199055 - 1580863;6480464;8554872 10094461;10356395;10438522;10464288;10751421;10801887;10827174;10986281;11167130;11254106;11278559;11796708;11801682;11831030;11854269;11956193;12202483;12477932;12646579;12975309;14561220;14662755;14701864;14715656;14744861;15161923;15489334;16003758;16099106;16188468;16344560;16677612;16710414;16723216;16741450;16771712;17009305;17095512;17208315;17265492;17295438;17311924;17430884;17470431;17606262;17978660;18039650;18042673;18050214;18156631;18221525;18387286;18660489;18671934;18718938;18941754;19054571;19322201;19342688;19643179;19944557;20625753;20664926;20857147;21139048;21334453;21345877;21664283;21946608;21988832;22065068;22324945;22562232;22670872;22735305;23082219;23137648;23295731;23319426;23438438;23859810;23897278;24051360;24126638;24474687;24786121;9734811 9507 O75173;Q5VTW1 AB014588;ABBA01016596;AF148213;AK291573;AL590714;AL603427;AMYH02002034;AY044847;AY358886;BC030812;BC063293;CH471121;DA098917;DQ364570;NM_005099;XM_006711635 AAD41494;AAH63293;AAL02262;AAQ89245;ABC88384;BAA31663;BAF84262;EAW52627;NP_005090;O75173;XP_006711698 Hs.211604 1848540;5015619;5015861;5037552;7185938 96;D10S16;D11S3114;D8S2279 ADAMTS-2;ADAMTS-4;ADMP-1;KIAA0688 A disintegrin and metalloproteinase with thrombospondin motifs 4;ADAM-TS 4;ADAM-TS4;OTTHUMP00000032249;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4;aggrecanase-1 APPROVED protein-coding HGNC:220 04853 603876 REVIEWED 1321838 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene is the major procollagen II N-propeptidase. A deficiency of this protein may be responsible for dermatosparaxis, a genetic defect of connective tissues. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 70502659 70790668 - 73146686 73434516 - 72280969 72568799 - 1580863;6480464;8554872 10094461;10464288;11167130;11408482;11741898;11812023;11831030;12477932;15708897;19199708;20881960;21546767;21822266;22205175;22286219;22916037;23259602;23333304;9205841 9508 B7Z2U9;O15072;Q96AY5 AB002364;ABBA01022980;ABBA01022981;ABBA01022982;ABBA01022983;AC093790;AC095056;AC104814;AF247668;AK295131;AMYH02009447;AMYH02009448;AMYH02009449;AMYH02009450;BC016451;BC019707;BC130287;BC132735;CH471057;NM_014243 AAH16451;AAI30288;AAI32736;AAK28400;BAA20821;BAH11985;EAX05651;EAX05652;NP_055058;O15072 Hs.590919 1650048;1658362;1662799;1713803;1715015;1776763;1795308;2137498 ADAMTS3_678;D4S1389;G33602;HSC2JD032;RH120789;RH120844;SHGC-59735;SHGC-67364 ADAMTS-4;KIAA0366 A disintegrin and metalloproteinase with thrombospondin motifs 3;ADAM-TS 3;ADAM-TS3;ADAMTS-3;OTTHUMP00000160361;PC II-NP;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3;procollagen II N-proteinase;procollagen II amino propeptide-processing enzyme;zinc metalloendopeptidase APPROVED protein-coding ENSG00000156140 HGNC:219 06893 605011 REVIEWED 7404403 ADAMTS7P1 ADAMTS7 pseudogene 1 15 15 15 q25.2 59525644 59537165 + 82585621 82626915 + 82293283 82334561 + 390660 ABBA01060647;ABBA01060648;ABBA01060649;ABBA01200681;AC126339;AC139425;AC139687;AC243919;AK131095;NR_045529 BAC85145 Hs.640255 ADAMTS7P2 pseudo ENSG00000274376 HGNC:49407 VALIDATED 7406831 ADAMTS7P2 ADAMTS7 pseudogene 2 q25.2 400419 AC126339;NG_028865 pseudo HGNC:49408 INFERRED 1317084 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011] 12 12 12 q12 42551068 42749852 - 43748012 43945724 - 43354209 43551921 - 6480464;8554872 12514189;12562771;14702039;20221248;22379998;23251661;24162737 80070 E9PBD5;G3V1X8;H0YHN3;P59510 ABBA01031413;ABBA01031414;ABBA01031415;ABBA01031416;AC090525;AC107018;AC120104;AF488804;AJ515153;AJ515154;AK023228;AMYH02026371;AMYH02026372;AMYH02026373;AMYH02026374;AMYH02026375;AMYH02026376;AMYH02026377;CH471111;NG_028228;NM_025003 AAO15766;BAB14479;CAD56159;CAD56160;EAW57861;EAW57862;EAW57863;EAW57864;NP_079279;P59510 Hs.287554 1696092;2218978 ADAMTS20__4252;SHGC-79122 ADAM-TS20;ADAMTS-20;GON-1 A disintegrin and metalloproteinase with thrombospondin motifs 20;ADAM-TS 20;OTTHUMP00000240868;OTTHUMP00000240870;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20;a disintegrin-like and metalloprotease with thrombospondin type 1 motifs 20 APPROVED protein-coding ENSG00000173157 HGNC:17178 611681 REVIEWED 1315487 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two C-terminal TS motifs. [provided by RefSeq, Jul 2008] 15 15 15 q24.2 55988022 56040507 - 79051545 79103805 - 78759203 78811463 - 1580863;6480464;8554872 10464288;11167130;12477932;16585064;18485748;19098927;19487464;20718794;21239051;21378988;21378990;22247065;23415669;23561647;24262325 11173 Q9UFZ4;Q9UKP4 AB209497;ABBA01060594;ABBA01060595;AC022748;AF140675;AK299844;AL110226;AL359934;AMYH02030866;AY327122;BC061631;CB991707;CH471136;NG_011492;NM_014272;XM_005254137;XM_005254138 AAD56358;AAH61631;AAQ94616;BAD92734;BAG61706;CAB53684;CAB95770;EAW99148;EAW99149;EAW99150;EAW99151;NP_055087;Q9UKP4;XP_005254194;XP_005254195 Hs.16441 1757665;1783198;2137316;5095096;5095098;5095102 ADAMTS7,_C.1468-4G>A;ADAMTS7,_C.2223T>C;ADAMTS7,_C.5061+42_C>T;RH46878;SHGC-146180;SHGC-146595 ADAM-TS 7;ADAM-TS7;ADAMTS-7;DKFZp434H204 A disintegrin and metalloproteinase with thrombospondin motifs 7;COMPase;a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7 APPROVED protein-coding ENSG00000136378 HGNC:223 05422 605009 REVIEWED 7402203 ADAMTS7P3 ADAMTS7 pseudogene 3 15 15 15 q24.3 55203287 55221424 + 78268067 78285393 + 77976009 77993241 + 23354978 400406 ABBA01060577;ABBA01060578;AC104758;AMYH02030857;AMYH02030858;NG_028863 pseudo HGNC:49409 INFERRED 1317007 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. [provided by RefSeq, Jul 2008] 5 5 5 q12 61441460 61776222 - 64444563 64777704 - 65148736 65481877 - 1580863;6480464;8554872 10464288;11167130;12477932;15123239;16129570;18579725;20379614;20889312;23212062;23291589;23727862;24457600;7566098;8401585 11174 Q5IR90;Q9UKP5 AA318687;AA333577;AA907572;AB209685;ABBA01048331;ABBA01048332;ABBA01048333;AC008847;AC008868;AC025176;AC025186;AC099505;AF140674;AK131039;AMYH02011423;AMYH02011424;AMYH02011425;AMYH02011426;AY692422;AY692423;AY692424;AY692425;AY692426;BC010563;BC020916;BC071654;BG117513;CR749356;KC876999;KC877000;KC877005;KF457912;KF457916;NM_197941;W05436 AAD56357;AAI56432;AAW47395;AAW47396;AAW47397;AAW47398;AAW47399;BAC85480;BAD92922;CAH18209;NP_922932;Q9UKP5 Hs.482291 1335310;1652232;1667904;1697052;1725125;1755313;1771220;1781198;1856258;2142342;2145627;2216992;5491850 ADAMTS6;ADAMTS6_3045;D5S1345;D5S1877;D7S1840;L28197;L28224;L31482;RH102005;RH118864;RH65423;SHGC-142204;STS-H02820 ADAM-TS 6;ADAM-TS6;ADAMTS-6 A disintegrin and metalloproteinase with thrombospondin motifs 6;OTTHUMP00000083269;OTTHUMP00000221883;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6 APPROVED protein-coding ENSG00000049192 HGNC:222 05421 605008 REVIEWED 7407746 ADAMTS7P4 ADAMTS7 pseudogene 4 15 15 15 q25.3 62201222 62213751 - 85798821 85814090 - 85255390 85270854 - 642935 AC044860;AMYH02030963;NG_022116 pseudo HGNC:49410 INFERRED 1343923 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs and functions as aggrecanase to cleave aggrecan, a major proteoglycan of cartilage. [provided by RefSeq, Jul 2008] 21 21 21 q21.3 13473563 13522743 - 28290231 28339439 - 26917912 26967120 - 1580863;6480464;8554872 10438522;10464288;10830953;11032846;11167130;11231277;11801682;11831030;11854269;11956193;12392761;12477932;14702039;14715656;15489334;15599946;16003758;16133547;16507336;17067994;17211519;17265492;17265493;17430884;17978660;17991750;18029348;18042673;18156631;18240210;18478108;18671934;18830934;18976975;19643179;19684582;19834535;20237151;20494980;20568084;21345877;21370305;21437951;21546767;21828051;21906983;22493487;22562232;22707719;22735305;22796434;22961118;23064555;23082219;23131589;23491141;23859810;23963448;24312401;24415654;24474687;24786121;9688535 11096 Q9UNA0 ABBA01057223;ABBA01057224;AF086299;AF086358;AF141293;AF142099;AK094057;AK095905;AMYH02037665;AP001600;AP001601;AP001697;AP001698;BC093775;BC093777;CH471079;KC877843;NM_007038 AAD49577;AAF02493;AAH93775;AAH93777;BAA95503;BAA95504;EAX09948;EAX09949;NP_008969;Q9UNA0 Hs.58324 1678859;1688674;1858068;2165187;2185105 RH92546;RH92793;SHGC-87515;SHGC-87525;STS-H13278 ADAM-TS 11;ADAM-TS 5;ADAM-TS5;ADAMTS-11;ADAMTS-5;ADAMTS11;ADMP-2;FLJ36738 A disintegrin and metalloproteinase with thrombospondin motifs 5;ADAM metallopeptidase with thrombospondin type 1 motif, 5 (aggrecanase-2);OTTHUMP00000096353;a disintegrin and metalloproteinase with thrombospondin motifs 11;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2);aggrecanase-2 APPROVED protein-coding ENSG00000154736 HGNC:221 05420 605007 REVIEWED 5144623 ADAMTS9-AS1 ADAMTS9 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 p14.1 64547311 64576384 + 64561346 64590084 + 8554872 12477932;14702039;16344560 101929335 ABBA01024308;AC096888;AC122178;AK056845;AK125532;AMYH02006956;BC071789;DA222486;HG495741;HG495742;HG495743;NR_110150;NR_110151 Hs.476604 APPROVED ncrna ENSG00000241158 HGNC:40625 VALIDATED 5144444 ADAMTS9-AS2 ADAMTS9 antisense RNA 2 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 3 3 3 64687277 64977811 + 64670546 64997143 + 64684870 65011468 + 6480464;8554872 16344560;18372903;22005931;22589738;23218918;23455636;23754948;24833086 100507098 ABBA01024306;ABBA01024307;ABBA01024308;AC008583;AC121766;AC122178;AC132007;AC137671;AK057923;AL832788;AMYH02006956;AMYH02006957;AMYH02006958;AMYH02006959;BC040632;DA927615;KC876901;KC876902;KF510848;LK937712;NR_038264 Hs.660881 1335736;1342413;1727843;1735106;1783062;1784384;2121012;2122920;7186570 D3S1285;D3S2784E;D3S3446;D3S3644;D3S4057;G63187;SHGC-150996;SHGC-152672 DKFZp667E0523 APPROVED ncrna ENSG00000241684 HGNC:42435 VALIDATED 1318322 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. [provided by RefSeq, Jul 2008] 11 11 11 q25 127443759 127467479 - 130274660 130298539 - 130404923 130428952 - 1580863;6480464;8554872 10438512;10610729;12477932;14702039;15296936;15328519;16152618;16570050;17606262;20201926;24384427 11095 Q5FWF1;Q9UP79 AB209717;ABBA01023041;AF060153;AF175283;AK123706;AMYH02025788;AP002986;BC089435;BC113874;BC114624;BM988619;CH471065;NM_007037;XM_006718758 AAD48081;AAF25806;AAH89435;AAI13875;AAI14625;BAD92954;BAG53941;EAW67783;EAW67784;EAW67785;NP_008968;Q9UP79;XP_006718821 Hs.271605 1771492;1797266 ADAMTS8_2450;D11S1009 ADAM-TS 8;ADAM-TS8;ADAMTS-8;FLJ41712;METH-2;METH-8;METH2 A disintegrin and metalloproteinase with thrombospondin motifs 8;OTTHUMP00000230650;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8 APPROVED protein-coding ENSG00000134917 HGNC:224 05531 605175 REVIEWED 7287931 ADAMTSL4-AS1 ADAMTSL4 antisense RNA 1 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 1 1 1 q21.2 123648320 123650357 - 150532554 150534591 - 150560895 150574552 - 6480464 12477932 574406 Q5T5F5 ABBA01049348;AK127688;AL356356;AMYH02001854;BC132990;BC132992;BG231546;CD684057;NR_104133 AAI32993;BAC87085;Q5T5F5 Hs.516243;Hs.679334 C1orf138 ncrna ENSG00000203804 HGNC:32041 VALIDATED 1315761 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. [provided by RefSeq, Jul 2008] 3 3 3 p14.1 64518077 64690097 - 64501330 64673676 - 64515654 64688000 - 1580863;6480464;8554872 10718198;10936055;11167130;12477932;12514189;14702039;15599946;16507336;16537537;16799631;18372903;18449890;18567820;18591388;18694974;18714373;19020323;19020324;19052845;19139842;19247373;19324937;19502414;19602701;19670153;19720844;19741467;19794065;19833888;19862325;19875450;19933996;19963134;20075150;20093484;20161779;20203524;20379614;20490451;20551050;20568084;20712903;20734064;20816152;20879858;20889853;20927120;20935629;22005931;22419820;22562232;22589738;22907434;23161442;23175174;23218918;23455636;23754948;24124411 56999 C9JWI2;H0Y859;Q9P2N4 AB037733;ABBA01024308;ABBA01024309;AC096888;AC122178;AF261918;AF488803;AK124945;AK300357;AK303343;AK310571;AMYH02006956;BC026271;BC036770;BC130578;BC171764;BX482310;CD103111;CH471055;NM_182920;XM_005265329;XR_245151 AAF89106;AAI30579;AAI71764;AAO15765;BAA92550;BAG62098;BAG64406;EAW65434;EAW65435;NP_891550;Q9P2N4;XP_005265386 Hs.656071 1670321;1674480;1687275;1795310;1847418;1850696;5019122 ADAMTS9_1430;RH102082;RH80461;SHGC-33668;SHGC-77053;STS-T87804;WI-17091 FLJ42955;KIAA1312 A disintegrin and metalloproteinase with thrombospondin motifs 9;ADAM-TS 9;ADAM-TS9;ADAMTS-9;OTTHUMP00000213329;OTTHUMP00000213331;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9 APPROVED protein-coding ENSG00000163638 HGNC:13202 05662 605421 REVIEWED 1351069 ADAMTSL4 ADAMTS-like 4 This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014] 1 1 1 q21.3 123637660 123649179 + 150521846 150533413 + 150549369 150560937 + 1580863;6480464;7240710;8554872;8699517 10737800;10842357;12477932;12706885;12975309;14702039;15489334;15498874;16189514;16335952;16364318;16710414;18029348;19060904;19200529;20141359;20564469;20702823;21051722;21988832;21989719;22268729;22338190;22736615;22871183;23088713;23426735;23585552;23846871;24722188;8889548 54507 B7ZMJ3;Q6UY14;Q9UFG7 ABBA01049348;AF217974;AF289612;AF370411;AI637480;AK023606;AK092509;AK293037;AL122085;AL356356;AL513944;AMYH02001854;AX883021;AY358122;BC027478;BC071852;BC094811;BC140800;BC144581;BG005397;BM148104;BM721520;BX282114;BX370116;BX647294;CB960863;CB988088;CH471121;CX164541;HY002139;NG_012172;NM_001288607;NM_001288608;NM_019032;NM_025008;XM_006711389;XM_006711390;XR_426786 AAG17217;AAH27478;AAH71852;AAH94811;AAI40801;AAI44582;AAI67841;AAL55796;AAQ15247;AAQ88489;BAB14619;BAF85726;CAB59258;CAE91811;EAW53542;EAW53543;NP_001275536;NP_001275537;NP_061905;NP_079284;Q6UY14;XP_006711452;XP_006711453 Hs.516243 5015881;5493267 GDB:335751;UniSTS:485529 ADAMTSL-4;ECTOL2;TSRC1 ADAMTS-like protein 4;OTTHUMP00000032789;OTTHUMP00000032790;thrombospondin repeat containing 1;thrombospondin repeat-containing protein 1 APPROVED protein-coding ENSG00000143382 HGNC:19706 08583;18237 225100;225200;610113 REVIEWED 1313018 ADAMTSL3 ADAMTS-like 3 ENCODES a protein that exhibits metallopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN proteinaceous extracellular matrix (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; hydrogen peroxide 15 15 15 q25.2 59876379 60263640 - 84322838 84708594 + 83654086 84039842 + 6480464;8554872 10574462;12477932;12508121;14667842;14702039;17597111;18391950;18391951;18391952;19266077;19343178;20189936;20397748;20546612;20881960;21239144;21998595;23563607;9628581 57188 P82987 AB033059;ABBA01029443;ABBA01029444;ABBA01029445;ABBA01029446;ABBA01029447;ABBA01029448;ABBA01029449;ABBA01029450;ABBA01029451;ABBA01029452;ABBA01029453;ABBA01029454;AC027807;AC087738;AC116157;AF237652;AK092324;AK308845;AL109723;AL109724;AMYH02030939;AMYH02030940;AMYH02030941;AMYH02030942;AMYH02030943;AMYH02030944;AW029535;BC128389;BC128390;BE646238;CH471188;KF456109;NM_001301110;NM_207517;XM_005272435;XM_005272436;XM_005272437 AAI28390;AAI28391;AAK15041;BAA86547;EAW62418;NP_001288039;NP_997400;P82987;XP_005272492;XP_005272493;XP_005272494 Hs.459162 1338049;1719647;1721745;1724353;1727225;1753813;1761081;1787740;1851318;2115367;2124741;2157725;2218182 ADAMTSL3__4253;D15S154;D15S821;D15S826;G59740;G62867;RH119099;RH123728;RH66242;SGC33139;SHGC-145062;SHGC-173332;SHGC-89205 KIAA1233;MGC150716;MGC150717 ADAMTS-like protein 3;ADAMTSL-3;OTTHUMP00000190871;a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3;punctin-2 protein-coding ENSG00000156218 HGNC:14633 12426 609199 VALIDATED 1315056 ADAMTSL1 ADAMTS-like 1 This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008] 9 9 9 p21.3 18399808 18837144 + 18474079 18910948 + 18474081 18910950 + 6480464;8554872 11805097;12477932;12975309;14667842;14702039;15164053;15203218;15489334;16344560;17395588;19671700;19824886;19913121;20379614;20628086;21897333;23251661;23459443;24529757;9628581 92949 A2A343;A6NIB9;F8WEP3;H7BYE3;Q6MZQ3;Q8N6G6 ABBA01065223;AF176313;AF251058;AI750970;AK092602;AK123028;AK128724;AK290667;AK291956;AL158150;AL353895;AL442638;AL449963;AL591423;AMYH02019247;AMYH02019248;AMYH02019249;AMYH02019250;AMYH02019251;AMYH02019252;AMYH02019253;AMYH02019254;AY358327;BC030262;BC100788;BC100789;BC100790;BU626040;BX640951;CD636819;CH471071;CR740880;CX758410;DA549329;DA598045;NM_001040272;NM_052866 AAH30262;AAI00789;AAI00791;AAK34948;AAK84170;AAQ88693;ADZ15395;BAC03925;BAF83356;BAF84645;CAE45975;EAW58656;NP_001035362;NP_443098;Q8N6G6 Hs.741483 1704812;1760619;1761055;1786912;2154304;2162739;2184359;2189355;5016464 154YD2;D9S1163;D9S1993;GDB:384854;MARC_2660-2661:991933047:1;SHGC-112031;SHGC-144166;SHGC-145006;SHGC-79875 ADAMTSL-1;ADAMTSR1;C9orf94;DKFZp686L03130;FLJ35283;FLJ41032;FLJ46891;MGC118803;MGC118805;MGC40193 ADAM-TS related protein 1;ADAMTS-like protein 1;OTTHUMP00000021085;OTTHUMP00000021086;OTTHUMP00000021088;OTTHUMP00000239538;PUNCTIN;punctin-1 APPROVED protein-coding ENSG00000178031 HGNC:14632 16462 609198 VALIDATED 1343515 ADAMTSL2 ADAMTS-like 2 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009] 9 9 9 q34.2 106945251 106987558 + 136397286 136440641 + 133532164 133575519 + 1580863;6480464;7240710;8554872;8699517 12477932;14667842;15489334;17509843;18677313;20301776;21415077;21988832;24014090;9628581 9719 B1B0D4;Q86TH1 AB011177;ABBA01032454;ABBA01032455;AI571260;AK127107;AK293498;AMYH02021833;AMYH02021834;BC050544;BX324209;BX629352;BX649571;CH471090;NG_009931;NM_001145320;NM_014694;XM_005272237;XM_005272238;XM_005272239;XM_006717336;XM_006717337 AAH50544;BAA25531;BAG54437;BAG56984;EAW88095;EAW88096;EAW88097;NP_001138792;NP_055509;Q86TH1;XP_005272294;XP_005272295;XP_005272296;XP_006717399;XP_006717400 Hs.522543 1337168;5037552 D8S2279;D9S1793 FLJ45164;GPHYSD1;KIAA0605 ADAMTS-like protein 2;ADAMTSL-2;OTTHUMP00000162492;OTTHUMP00000162493 APPROVED protein-coding ENSG00000197859 HGNC:14631 11096 231050;612277 REVIEWED 1313735 ADAMTSL5 ADAMTS-like 5 ENCODES a protein that exhibits heparin binding; INVOLVED IN proteolysis (inferred); FOUND IN extracellular matrix; extracellular region; microfibril; INTERACTS WITH 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl; 3,3',4,4',5-pentachlorobiphenyl 19 19 19 p13.3 1439031 1447215 - 1505017 1513188 - 1505018 1513189 - 6480464 12477932;14702039;15489334;17113583;19322201;19851296;20198315;23010571 339366 A4QPG6;K7ELV0;Q0VD77;Q6ZMM2;X6R4H8 ABBA01002650;AC027307;AK131571;AK302020;AMYH02035153;BC040620;BC119796;BC139833;CH471139;DR979736;NM_213604;XM_005259549;XM_006722737;XM_006722738;XM_006722739;XM_006722740 AAH40620;AAI19797;AAI39834;BAD18703;BAG63419;EAW69486;EAW69487;EAW69488;EAW69489;EAW69490;NP_998769;Q6ZMM2;XP_005259606;XP_006722800;XP_006722801;XP_006722802;XP_006722803 Hs.371674 2124815 RH66645 THSD6 ADAMTS-like protein 5;ADAMTSL-5;thrombospondin type-1 domain-containing protein 6;thrombospondin, type I, domain containing 6 protein-coding ENSG00000185761 HGNC:27912 15504 VALIDATED 733651 ADAP1 ArfGAP with dual PH domains 1 ENCODES a protein that exhibits ARF GTPase activator activity; INVOLVED IN positive regulation of GTPase activity; regulation of GTPase activity; PARTICIPATES IN phosphatidylinositol 3-kinase class I signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid; diarsenic trioxide 7 7 7 p22.3 906136 962035 - 937537 995208 - 897900 955407 - 1580863;6480464;6484113;8554872 10333475;10448098;11278595;11869802;12018390;12062430;12477932;12499840;12565890;12761501;12893243;14625293;14690521;14702039;15003508;15106847;15489334;15679100;15778454;16169070;16176273;16287813;16341594;16341674;16344560;16805830;18029348;18298663;19423540;20406964;20438785;21057110;21801775;21900206;21906983;21972134 11033 A8K3A2;B4DUZ7;C9JN36;H0Y7Q1;H7BZT6;H7C264;H7C324;H7C4B3;O75689 AB097049;ABBA01039307;ABBA01039308;ABBA01039309;ABBA01039310;ABBA01039311;ABBA01039312;ABBA01039313;AC073957;AF082324;AI910700;AJ006422;AK092471;AK124979;AK290517;AK300644;AK300859;AK300999;AMYH02015036;AMYH02015037;BC033747;BG716328;BM837987;CH236965;CH471144;CR975507;DA872042;KF511054;NM_001284308;NM_001284309;NM_001284310;NM_001284311;NM_006869 AAD11414;AAH33747;BAC77402;BAF83206;BAG52556;BAG54118;BAG62332;BAG62509;BAG62618;CAA07024;EAL23709;EAW87182;EAW87183;EAW87184;NP_001271237;NP_001271238;NP_001271239;NP_001271240;NP_006860;O75689 Hs.602573 1342067;1759585;1762945;1790725;1851203;2152496;2181759;7184427 D7S2474;GDB:1318184;GDB:3778207;HSC231_(nt989926);SHGC-146699;SHGC-151230;STS-R20738 CENTA1;GCS1L;cnt-a1;p42IP4 OTTHUMP00000024998;OTTHUMP00000200049;arf-GAP with dual PH domain-containing protein 1;centaurin, alpha 1;centaurin-alpha;centaurin-alpha-1;putative MAPK-activating protein PM25 protein-coding ENSG00000105963 HGNC:16486 09733 608114 VALIDATED 732582 ADARB1 adenosine deaminase, RNA-specific, B1 This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 31601137 31754043 + 46494493 46646478 + 45074578 45226563 + 1300255;1580863;6480464;8554872 10894545 10830953;10899322;11278278;11717408;11907222;12163487;12414985;12459255;12477932;12859334;14612560;14759252;14759258;15302935;15383678;16141067;16297572;16733555;16961545;17071493;17525170;17728516;17903307;18178553;19156129;19156214;19642681;19713932;20011587;20215858;20372915;20379614;21139048;21289159;21622951;21832049;21847096;22226999;22366356;22414730;22525274;23621630;24386085;24443933;24457600;24778252;8559253;8889548;8995285;9103436;9111310;9113993;9143496;9149227;9330641;9330696 104 P78563;Q4AE77;Q4AE81 AB194369;AB194370;AB194371;AB194372;AB194373;ABBA01074185;ABBA01074186;ABBA01074187;AF001042;AF525422;AF533142;AL133499;AL163301;AMYH02037926;AMYH02037927;AMYH02037928;AP001579;AY082339;AY135659;BC030663;BC046198;BC065545;BU726292;BX322560;CH471079;FJ169506;NM_001112;NM_001160230;NM_015833;NM_015834;NR_027672;NR_027673;NR_027674;NR_073200;U73197;U76420;U76421;U76422;U82120;U82121;X99227;X99383;XM_006723953;XM_006723954;XM_006723955;XM_006723956;XM_006723957;XM_006723958;Z95973;Z95974;Z95975;Z95976 AAB18134;AAB58300;AAB61686;AAB61687;AAC51240;AAC51241;AAC51242;AAH65545;AAL99252;AAM83100;AAM97654;AAN10291;ACN49027;BAE16325;BAE16326;BAE16327;BAE16328;BAE16329;CAA67611;CAA67762;CAB09392;CAB90493;EAX09357;EAX09358;EAX09359;EAX09360;EAX09361;EAX09362;NP_001103;NP_001153702;NP_056648;NP_056649;P78563;XP_006724016;XP_006724017;XP_006724018;XP_006724019;XP_006724020;XP_006724021 Hs.474018 1661486;1674950;1683451;1724749;1735022;1776088;1795312 ADARB1_1459;Cda0pa11;D21S1720E;G23228;RH122581;RH80251;SHGC-87694 ADAR2;DRABA2;DRADA2;RED1 OTTHUMP00000115339;OTTHUMP00000115340;OTTHUMP00000115341;OTTHUMP00000115342;OTTHUMP00000174981;OTTHUMP00000214128;RED1 homolog;RNA editase;RNA editing deaminase 1;RNA-editing deaminase 1;RNA-editing enzyme 1;adenosine deaminase, RNA-specific, B1 (RED1 homolog rat);adenosine deaminase, RNA-specific, B1 (homolog of rat RED1);double-stranded RNA-specific editase 1;dsRNA adenosine deaminase;dsRNA adenosine deaminase DRADA2;human dsRNA adenosine deaminase DRADA2 APPROVED protein-coding ENSG00000197381 HGNC:226 06777 601218 VALIDATED 1320789 ADAT1 adenosine deaminase, tRNA-specific 1 This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] 16 16 16 q23.1 59926593 59951568 - 75622718 75657221 - 75598349 75623323 - 6480464;8554872 10430867;12477932;14702039;19322201;19844255;21890473;21906983;21963094;23000965 23536 H3BNT8;H3BP18;H3BP27;H3BSM1;H3BU72;H3BV89;Q9BUB4 ABBA01017057;AC025287;AF125188;AK001687;AK296834;AK314652;AMYH02032404;BC002758;CH471114;DC395938;NM_012091;NR_036460 AAD48376;AAH02758;ABM83927;ABM87246;BAA91837;BAG37213;BAG59404;EAW95625;EAW95626;EAW95627;NP_036223;Q9BUB4 Hs.729312 1728109;5020946;5020948;5022450;5022578;5037552 D10S275;D1S1423;D8S2279;G35510;G63326;L17971 HADAT1 OTTHUMP00000174951;adenosine deaminase acting on tRNA;tRNA-specific adenosine deaminase 1;tRNA-specific adenosine-37 deaminase APPROVED protein-coding HGNC:228 11970 604230 REVIEWED 734306 ADAP2 ArfGAP with dual PH domains 2 ENCODES a protein that exhibits inositol 1,3,4,5 tetrakisphosphate binding; phosphatidylinositol-3,4,5-trisphosphate binding; phosphatidylinositol-3,4-bisphosphate binding (ortholog); INVOLVED IN heart development; FOUND IN cytoplasm; plasma membrane; mitochondrial envelope (ortholog); INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; pirinixic acid 17 17 17 q11.2 26169680 26207134 + 29248698 29286340 + 30921736 30959193 + 1580863;6480464 10843809;12018390;12477932;14690521;15489334;16138909;16169070;17207965;17632510;18298663;18391951;18482256;18541383;19266077;19291764;19953087;20098747;20379614;20546612;21832049;23285209;8125298 55803 J3KST1;J3KT70;J3QLP8;J3QRA6;J3QRD3;K7ENT1;Q2V6Q1;Q9NPF8 ABBA01014977;AC138207;AJ238994;AJ242782;AJ272195;AK074196;AK074204;AK222526;AMYH02033287;AMYH02033288;BC033758;CH471147;DQ288859;NM_018404;XM_005258008;XM_005258011;XM_006721973 AAH33758;ABB90599;ADQ32352;BAD96246;CAB77266;CAB88383;CAC40651;EAW80287;EAW80288;EAW80289;NP_060874;Q9NPF8;XP_005258065;XP_005258068;XP_006722036 Hs.514063 1655147;1674966;1852359 RH35914;SHGC-34232;SHGC-35088 CENTA2;HSA272195;cent-b;cnt-a2 OTTHUMP00000163768;arf-GAP with dual PH domain-containing protein 2;centaurin beta;centaurin, alpha 2;centaurin-alpha 2 protein;centaurin-alpha-2 protein-coding ENSG00000184060 HGNC:16487 16357 608635 VALIDATED 736989 ADAR adenosine deaminase, RNA-specific This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 1 1 1 q21.3 127626167 127672093 - 154554533 154600456 - 154582057 154627999 - 1559268;1300254;6480464;6907045;7240710;8554872;8699517 11099415;12916015 10200312;10364558;10535945;10899322;11278278;11421361;11451992;11593027;11604520;11752786;11907222;12243919;12396729;12414985;12429827;12447867;12453429;12477932;12618436;12665561;12702817;12954622;14702039;14711814;15102079;15146470;15342791;15489334;15556947;15635413;15659327;15723802;15724015;15858013;15955093;16055709;16120648;16133458;16344560;16475990;16886895;16917490;16964243;17020943;17021765;17033168;17079286;17081983;17225010;17478391;17569068;17680540;17698644;18029348;18178553;18243666;18362360;18422172;18627385;18705826;18753201;18799292;18835380;19124606;19322201;19434718;19454010;19471022;19559055;19596686;19605474;19637911;19651874;19667218;19710021;19713932;19733181;19913273;19946888;20020773;20069304;20186421;20300939;20301334;20301648;20379614;20430589;20439151;20586835;20588308;20590675;20708476;20802353;20805743;20844743;20875819;20931541;21081666;21083709;21139048;21145461;21159878;21217697;21252943;21269755;21301145;21316340;21490091;21587236;21890473;21906983;21924887;21933234;21963094;21988832;22022963;22039911;22077581;22104209;22174317;22268729;22278222;22336994;22446626;22505724;22751105;22821605;22833565;22843049;22885375;22939629;22974014;22993189;23000965;23001123;23075647;23079620;23115276;23125841;23166591;23275297;23315877;23336285;23474544;23535732;23728176;23752268;23766440;23853584;24065641;24067935;24183664;24256817;24262145;24302582;24332808;24457600;24501781;24591637;24654937;24753571;24778252;24813121;24816145;24950769;25010446;25027693;3175763;7490742;7565688;7618288;7862132;7972084;8586444;9020165;9103436;9237992;9330696;9735305 103 H0YCK3;P55265 AA449679;AB209891;ABBA01049490;ABBA01049491;AF084516;AK097241;AK304153;AL592078;AL606500;AL691488;AMYH02001927;AMYH02001928;AMYH02001929;AMYH02001930;BC017853;BC038227;BE886208;BU430287;BX538232;BX640741;CD108625;CH471121;CR982397;DA507408;DR158819;EF190448;EF190449;EF190450;EF190451;EF190452;EF190453;KJ544856;NG_011844;NM_001025107;NM_001111;NM_001193495;NM_015840;NM_015841;U10439;U18121;U75503;X79448;X79449;X98559;X98563;XM_006711109;XM_006711110;XM_006711111;XM_006711112;XM_006711113 AAB06697;AAB97116;AAB97117;AAB97118;AAC13782;AAH38227;ABM73519;ABM73520;ABW03600;ABW03910;AHZ44503;BAD93128;BAH14119;CAA55967;CAA55968;CAA67169;CAA67170;CAD98075;CAE45853;EAW53183;EAW53184;EAW53185;EAW53186;EAW53187;EAW53188;EAW53189;EAW53190;NP_001020278;NP_001102;NP_001180424;NP_056655;NP_056656;P55265;XP_006711172;XP_006711173;XP_006711174;XP_006711175;XP_006711176 Hs.12341 1651674;1663568;1664996;1725591;1734862;1735582;1758591;1767948;1773796;2121520;2127470;5022578;5022651;5037552 A002O29;Cda01b01;D11S2921;D1S1423;D1S1794E;D1S1878E;D8S2279;G62017;RH11954;RH70556;SHGC-12950;SHGC-148872;SHGC-2343;SHGC-32043 ADAR1;AGS6;DSH;DSRAD;G1P1;IFI-4;IFI4;K88dsRBP;P136 136 kDa double-stranded RNA binding protein;136 kDa double-stranded RNA-binding protein;DRADA;OTTHUMP00000035372;OTTHUMP00000035373;OTTHUMP00000231779;RNA-specific adenosine deaminase;adenosine deaminase acting on RNA 1-A;double-stranded RNA-specific adenosine deaminase;dsRNA adenosine deaminase;interferon-induced protein 4;interferon-inducible protein 4 APPROVED protein-coding ENSG00000160710 HGNC:225 07528 127400;146920;615010 REVIEWED 736199 ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional) This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008] 10 10 10 p15.3 1177236 1724446 - 1223253 1779670 - 1177313 1737476 - 1580863;6480464;8554872 10836796;10899322;11278278;12477932;14702039;15164054;15635413;16344560;16385451;17000644;18029348;19197348;20011587;20379614;20709820;20923822;22210125;23400010;23793025;24324551;24778252;25015289;8889549;9103436;9272162;9330696 105 Q5VW42;Q5VW43;Q9NS39 ABBA01035244;ABBA01035245;ABBA01035246;ABBA01035247;ABBA01035248;ABBA01035249;ABBA01035250;ABBA01035251;ABBA01035252;ABBA01035253;ABBA01035254;ABBA01035255;ABBA01035256;ABBA01035257;ABBA01035258;AC026224;AC226387;AF034837;AI695657;AK055107;AK057763;AK094294;AK123334;AK289895;AK307451;AK308579;AL392083;AL442069;AL450386;AL513304;AMYH02021986;AMYH02021987;AMYH02021988;AMYH02021989;AMYH02021990;AMYH02021991;BC047443;BC137477;BC139725;BC140852;CH471072;DA533361;KF511093;NM_018702 AAF78094;AAH47443;AAI37478;AAI39726;AAI40853;BAF82584;BAG51468;EAW86508;NP_061172;Q9NS39 Hs.586663 1335346;1338445;1338918;1339005;1680821;1725159;1731030;1759039;1762147;1762273;1763071;1764815;1765637;1766189;1766409;1853461;2152937;2167253;2177490;2183076;7185318;7185548;7187595 D10S1474;D10S2479;D10S262;D10S526;D10S559;D10S594;RH124062;RH66275;RH98543;SGC36944;SHGC-146044;SHGC-146129;SHGC-146806;SHGC-148380;SHGC-149080;SHGC-149557;SHGC-149750;SHGC-150618;SHGC-58206;WI-21857 ADAR3;FLJ25034;FLJ36975;FLJ41340;RED2;hRED2 OTTHUMP00000018961;RED2 homolog;RNA-dependent adenosine deaminase 3;RNA-editing deaminase 2;RNA-editing enzyme 2;adenosine deaminase, RNA-specific, B2 (RED1 homolog rat);adenosine deaminase, RNA-specific, B2 (RED2 homolog rat);adenosine deaminase, rna-specific, b2;double-stranded RNA-specific editase B2;dsRNA adenosine deaminase B2;homolog of rat BLUE APPROVED protein-coding ENSG00000185736 HGNC:227 09070 602065 REVIEWED 1347708 ADARB2-AS1 ADARB2 antisense RNA 1 10 10 10 p15.3 1515577 1545999 + 1568825 1599179 + 1526630 1556984 + 11181995;16344560 642394 A8MUL3 ABBA01035246;AF086274;AL450386;AMYH02021990;CH471072;DA335457;NR_033387 A8MUL3;EAW86509;EAW86510;EAW86511 Hs.568831 C10orf109;NCRNA00168;bA466B20.1 APPROVED ncrna ENSG00000205696 HGNC:23299 PREDICTED 1603369 ADAT3 adenosine deaminase, tRNA-specific 3 ENCODES a protein that exhibits hydrolase activity (inferred); zinc ion binding (inferred); INVOLVED IN tRNA processing (inferred); ASSOCIATED WITH Autosomal recessive inheritance (inferred); Esotropia (inferred); Failure to thrive (inferred); INTERACTS WITH copper(2+) sulfate; disodium selenite; methotrexate 19 19 19 p13.3 1839500 1847520 + 1905371 1913446 + 1905372 1913447 + 6480464;8699517;7240710;8554872 12457566;12477932;20946988;21988832;23620220;24250222 113179 C9JFC1;D6W601;Q96EY9 ABBA01002692;AC012615;AMYH02035174;BC011824;CH471139;HY030731;NM_138422 AAH11824;EAW69434;EAW69436;EAW69438;NP_612431;Q96EY9 Hs.144980 FWP005;MRT36;MST121;MSTP121;S863-5;TAD3 OTTHUMP00000206203;OTTHUMP00000206204;adenosine deaminase, tRNA-specific 3, TAD3 homolog;probable inactive tRNA-specific adenosine deaminase-like protein 3;tRNA-specific adenosine deaminase 3 homolog;tRNA-specific adenosine deaminase-like protein 3;tRNA-specific adenosine-34 deaminase subunit ADAT3 APPROVED protein-coding ENSG00000213638 HGNC:25151 14000 615286;615302 VALIDATED 1320091 ADAT2 adenosine deaminase, tRNA-specific 2 ENCODES a protein that exhibits tRNA-specific adenosine deaminase activity (inferred); zinc ion binding (inferred); INVOLVED IN tRNA wobble adenosine to inosine editing (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; cobalt dichloride 6 6 6 q24.2 144484388 144512268 - 143743969 143771841 - 143422832 143450704 - 6480464 11181995;12457566;12477932;16344560;20581866;21832049;24816145;8889548 134637 Q7Z6V4;Q7Z6V5 ABBA01025748;AK126201;AL031320;AMYH02014634;BC037955;BM680217;BX538182;CH471051;DA100320;NM_001286259;NM_182503 AAH37955;ACE86534;ACE87213;BAG54295;CAD98054;EAW47867;EAW47868;NP_001273188;NP_872309;Q7Z6V5 Hs.709561 2114663;2139618;2142144;2151148;2184453 A008M31;RH46441;RH64939;SHGC-34012;STS-Z40866 DEADC1;DKFZp686L1118;FLJ44213;TAD2;dJ20N2;dJ20N2.1 OTTHUMP00000017329;adenosine deaminase, tRNA-specific 2, TAD2 homolog;deaminase domain containing 1;deaminase domain-containing protein 1;tRNA-specific adenosine deaminase 2;tRNA-specific adenosine deaminase 2 homolog;tRNA-specific adenosine-34 deaminase subunit ADAT2 APPROVED protein-coding ENSG00000189007 HGNC:21172 615388 VALIDATED 1317936 ADCK1 aarF domain containing kinase 1 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); transferase activity, transferring phosphorus-containing groups (inferred); INVOLVED IN metabolic process (inferred); protein phosphorylation (inferred); FOUND IN extracellular region (inferred); mitochondrion (inferred); INTERACTS WITH hydrogen peroxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 14 14 14 q24.3 58304590 58438453 + 78266426 78400297 + 77800083 77933954 + 1580863;6480464 12471243;12477932;14702039;15203218;15489334;16169070;20877624;21988832 57143 F8W9Q8;G3V3J2;G3V426;Q86TW2 ABBA01030641;ABBA01030642;ABBA01030643;AC008372;AI866496;AK096919;AK126928;AK299430;AMYH02029580;AMYH02029581;AMYH02029582;AMYH02029583;BC017459;BC058906;BX248292;CD630155;CH471061;DN996748;NM_001142545;NM_020421;XM_005267885;XM_005267886 AAF23326;AAH58906;BAG53397;BAG61409;CAD62620;EAW81309;EAW81310;NP_001136017;NP_065154;Q86TW2;XP_005267942;XP_005267943 Hs.413208 1341749;1774344;1846828;1847615;2122340;2142940;2143865;2151521;2163173;2180641;2184606;7186113 A006C45;D14S254;D14S873;G29191;G35597;G35801;G35941;G36044;G36065;G36087;WI-11547 FLJ39600 OTTHUMP00000246285;OTTHUMP00000246289;uncharacterized aarF domain-containing protein kinase 1 protein-coding ENSG00000063761 HGNC:19038 10630 VALIDATED 1350082 ADCP1 adenosine deaminase complexing protein 1 279003 106 HGNC:229 1313570 ADCK5 aarF domain containing kinase 5 ENCODES a protein that exhibits protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH hydrogen peroxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dibutyl phthalate (ortholog) 8 8 8 q24.3 141773087 141792916 + 145597704 145618457 + 144374015 144393242 + 6480464;8554872 12477932;14702039;15489334;16421571;20467438;20877624;21988832;24250222 203054 E9PJ20;E9PLF3;Q3MIX3;R4GN53 ABBA01005207;ABBA01005208;ABBA01005209;AC233992;AF205589;AK092773;AMYH02019004;BC031570;BC032402;BC064345;BC085013;BC101659;BC143322;BC143326;BI825038;BM146288;BU845476;CH471162;HY037845;NM_174922;XM_006716526;XM_006716527 AAH31570;AAH64345;AAH85013;AAI01660;ADZ15774;BAG52608;EAW82111;EAW82112;EAW82113;EAW82114;NP_777582;Q3MIX3;XP_006716589;XP_006716590 Hs.283374 1701588 RH104428 FLJ35454;MGC126708 OTTHUMP00000228830;uncharacterized aarF domain-containing protein kinase 5 protein-coding ENSG00000173137 HGNC:21738 12427 VALIDATED 1343862 ADCK3 aarF domain containing kinase 3 This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 200318754 200366064 + 227084589 227175246 + 226897720 226987545 + 1580863;6480464;7240710;8554872;8699517 11888884;12477932;14702039;15489334;15498874;16189514;16344560;16710414;18319072;18319074;20186120;20301317;20877624;21139048;21296186;21890473;21903422;22036850;23383273;24250222 56997 Q5T7A2;Q8NI60 AB073905;ABBA01009622;ABBA01009623;ABBA01009624;ABBA01009625;AF218003;AI888739;AJ278126;AK074693;AK090494;AK092784;AK126200;AK293571;AK297735;AK300537;AK301012;AL137511;AL353689;AL391628;AMYH02002821;AMYH02002822;BC005171;BC129930;BX648860;CH471098;DA925261;NG_012825;NM_020247;XM_005273201;XM_005273202;XM_005273203 AAG17245;AAH05171;AAI29931;BAB91363;BAC11143;BAG52171;BAG57042;BAG60085;BAG62245;BAG62629;CAC00482;CAH56132;EAW69801;EAW69802;EAW69803;EAW69804;EAW69805;NP_064632;Q8NI60;XP_005273258;XP_005273259;XP_005273260 Hs.118241 1692500;1700602;1769605;1775527;2128416 AL033902;Bdy96e07;RH103923;RH16026;RH41876 ARCA2;CABC1;COQ10D4;COQ8;MGC4849;SCAR9 OTTHUMP00000035734;OTTHUMP00000035735;OTTHUMP00000035736;OTTHUMP00000035737;OTTHUMP00000038685;aarF domain-containing protein kinase 3;chaperone activity of bc1 complex-like, mitochondrial;chaperone, ABC1 activity of bc1 complex homolog;chaperone, abc1 activity of bc1 complex like (s. pombe);chaperone-ABC1-like;coenzyme Q8 homolog APPROVED protein-coding ENSG00000163050 HGNC:16812 07375 606980;612016 REVIEWED 1322312 ADCK2 aarF domain containing kinase 2 ENCODES a protein that exhibits ATP binding (inferred); protein kinase activity (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN metabolic process (inferred); protein phosphorylation (inferred); FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; cisplatin 7 7 7 q34 135095002 135116957 + 140372730 140395745 + 140672930 140695111 + 6480464 12477932;12690205;12853948;15324660;15489334;20877624;22118674;8619474;9110174 90956 A4D1T6;C9JE15;H7C4I2;H7C5M5;Q7Z695 ABBA01034085;AC006344;AC006452;AF131745;AMYH02016908;AMYH02016909;AY302592;BC014107;CH236950;CH471070;NM_052853;XM_006716170 AAD43192;AAH14107;AAP60021;EAL24025;EAW83956;EAW83957;NP_443085;Q7Z695;XP_006716233 Hs.744886 1652244;2135183 D4S3183;D7S2105E AARF;MGC20727 OTTHUMP00000212102;OTTHUMP00000212103;OTTHUMP00000212104;OTTHUMP00000212105;putative ubiquinone biosynthesis protein AarF;uncharacterized aarF domain-containing protein kinase 2 protein-coding ENSG00000133597 HGNC:19039 10631 VALIDATED 1322771 ADCK4 aarF domain containing kinase 4 This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 19 19 19 q13.2 37997846 38023215 - 41197434 41222790 - 40691529 40716885 - 1580863;6480464;8699517;7240710;8554872 12107410;12477932;14702039;15489334;16344560;20877624;21890473;22081228;23000965;23088713;24270420;8619474;9110174 79934 M0QZZ2;M0R001;M0R011;M0R0F4;M0R0L2;M0R2F4;M0R307;M0R340;M0R362;M0R3F7;Q96D53 ABBA01040785;ABBA01040786;AC010412;AF052122;AK022291;AK057199;AMYH02036123;AU121879;BC013114;BC013884;BC027473;CA397752;CH471126;NG_027800;NM_001142555;NM_024876;XM_005259270;XM_005259271;XM_005259272;XM_005259273;XM_005259274;XM_006723392;XM_006723393;XM_006723394 AAH13114;AAH27473;ABM82617;ABM85800;BAB14004;EAW56987;EAW56988;EAW56989;EAW56990;EAW56991;NP_001136027;NP_079152;Q96D53;XP_005259327;XP_005259328;XP_005259329;XP_005259330;XP_005259331;XP_006723455;XP_006723456;XP_006723457 Hs.130712 1681620;1700548;1778582;1779706 G34996;RH103895;RH75304;SHGC-153683 FLJ12229;NPHS9 aarF domain-containing protein kinase 4;uncharacterized aarF domain-containing protein kinase 4 APPROVED protein-coding ENSG00000123815 HGNC:19041 10632 615567;615573 REVIEWED 2303886 ADCY10P1 adenylate cyclase 10 (soluble) pseudogene 1 INTERACTS WITH valproic acid 6 6 6 p21.1 42621455 42661263 + 41068773 41108573 + 41101034 41140835 + 6480464 12477932 221442 ABBA01050760;AI243114;AK126092;AK128294;AL031778;AL133404;AL833650;AMYH02013601;AMYH02013602;BC126399;BX537595;BX648193;NR_026938 BAC87372 Hs.374076 1675636;1694190;1725007;1849212;2171713;2181246;2183117;5014051;5021872;5022200;5037552 AL035168;D6S1115E;D6S1425;D6S2155;D8S2278;D8S2279;L18426;RH118799;RH46298;RH98544;sY3084 FLJ46432 APPROVED pseudo ENSG00000161912 HGNC:44143 17323 VALIDATED 737484 ADCY10 adenylate cyclase 10 (soluble) The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014] 1 1 1 q24 140887888 140992712 - 167778357 167883608 - 167809120 167914369 - 2312469;6480464;6907045;8554872 18948702 10446129;10566627;10737962;10915626;11423534;11875252;11932268;12475901;12477932;12609998;12958208;14993377;15342355;15659711;16054031;16344560;17591988;18209474;19064610;19093065;19536175;20130594;20379614;21994938;22775536;23255611;24091307;24100033;24420537;24567411;24792377;9694905;9874775 55811 Q96PN6;U3KPS9;V9GY51 ABBA01047239;ABBA01047240;ABBA01047241;AF176813;AF271058;AF299350;AF331033;AK302884;AK310395;AK310531;AL035122;AMYH02002094;AMYH02002095;BC117366;BC117372;CH471067;DB063660;KF454902;KF455054;KF510196;NG_016139;NM_001167749;NM_001297772;NM_018417;XM_005245329;XM_005245330;XM_006711449;Z97876;Z99943 AAF65931;AAF74296;AAI17367;AAI17373;AAK96045;AAL57036;BAG64062;CAA22684;EAW90804;EAW90805;EAW90806;EAW90807;NP_001161221;NP_001284701;NP_060887;Q96PN6;XP_005245386;XP_005245387;XP_006711512 Hs.320892 1336589;1774711;2138878;7186020 AL009926;D1S431;SHGC-75875 HCA2;RP1-313L4.2;SAC;SACI;Sacy;hsAC 3',5'-cyclic AMP synthetase;AH-related protein;ATP pyrophosphate-lyase;OTTHUMP00000032525;OTTHUMP00000032526;adenylate cyclase type 10;germ cell soluble adenylyl cyclase;testicular soluble adenylyl cyclase;testicular soluble adenylyl cyclase (SAC) APPROVED protein-coding ENSG00000143199 HGNC:21285 05549 605205 REVIEWED 734219 ADCY2 adenylate cyclase 2 (brain) This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008] 5 5 5 p15.3 7439102 7871262 + 7396343 7830194 + 7396230 7830081 + 1298711;1580863;1300048;2312469;6480464;6484113;6907045;8554872 1427768;18948702 10089566;10470851;10807185;10808179;11299302;11549699;11884542;12477932;12503609;12626323;14702039;14993377;15489334;16344560;18519826;19156168;20379614;20664520;21228062;21528083;2165385;21890473;22461431;22505724;22589738;22864933;23504261;23889134;24376456;7937899;7959689;8619474;8663304;8692867;9110174;9268375;9417641 108 D6REB8;H0YA58;Q08462;Q71UM8 AB028983;ABBA01016160;ABBA01016161;ABBA01020576;AC010346;AC010437;AC024577;AC093305;AC113366;AF070583;AF410885;AK123013;AK127036;AK294555;AK295531;AK299775;AK304041;AK307474;AMYH02010816;AMYH02010817;AMYH02010818;AMYH02010819;AMYH02010820;AMYH02010821;AMYH02010822;AMYH02010823;BC111743;BE677757;BK000372;CH471102;CR749634;CS072119;DB029098;DB481853;KF457856;L21993;NM_020546;X74210;XR_427657 AAA64923;AAC28647;AAI11744;AAP97285;BAA83012;BAG53849;BAG58443;BAG61658;BAG64952;BAH11807;CAA52282;CAH18428;CAI93390;DAA00058;EAX08097;NP_065433;Q08462 Hs.481545 1340824;1342327;1644881;1650515;1655774;1656086;1667880;1678891;1735488;1748495;1750647;1762259;1763561;1765651;1766449;1766869;1782670;1785632;2112218;2113780;2130437;2141771;2150967;2218184;5014051;5015619;5016700;5022200;5037552;5117897;7186456 ADCY2;ADCY2_4036;D11S3114;D5S1607E;D5S1736;D5S1866;D5S1953;D5S2572;D5S2717;D5S2784;D5S676;D8S2278;D8S2279;GDB:631813;L18426;RH15976;RH26804;RH78017;RH79802;SHGC-111957;SHGC-146119;SHGC-147265;SHGC-149093;SHGC-149779;SHGC-152285;SHGC-153179;SHGC-156108;SHGC-23973;SHGC-30499;STS-L21993 AC2;FLJ16822;FLJ45092;HBAC2;KIAA1060;MGC133314 3',5'-cyclic AMP synthetase;ATP pyrophosphate-lyase 2;OTTHUMP00000115545;adenylate cyclase II;adenylate cyclase type 2;adenylate cyclase type II;adenylyl cyclase 2;type II adenylate cyclase APPROVED protein-coding ENSG00000078295 HGNC:233 00052 103071 REVIEWED 1319601 ADCY1 adenylate cyclase 1 (brain) This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 7 7 7 p13-p12 45713145 45861628 + 45614125 45762715 + 45574140 45723116 + 1580863;2312469;6480464;6484113;6907045;7240710;8554872;8699517 18948702 10089566;10807185;10808179;11299302;11549699;11884542;12477932;12503609;12626323;12690205;12743114;12853948;14702039;14993377;15133516;15361543;16531006;17586501;19029295;19056867;19058789;19156168;19460752;19726641;19834535;20554763;2121366;2165385;23504261;7937899;7959689;8314585;8476432;8663304;8692867;9417641 107 C9J1J0;Q08828;Q59FG4;Q8NFM5 AB209496;ABBA01058250;AC069008;AC091439;AF086306;AF497515;AK024415;AK055343;AK095518;AK095665;AL707720;AMYH02015640;AMYH02015641;AMYH02015642;AMYH02015643;AW956248;AX753107;BC036858;BC041473;BU181704;CH236960;CH471128;L05500;NG_034198;NM_001281768;NM_021116;XM_005249584;XM_005249585 AAA02907;AAM94372;AAS07467;BAD92733;CAD99233;EAL23741;EAW61042;EAW61043;EAW61044;EAW61045;EAW61046;EAW61047;NP_001268697;NP_066939;Q08828;XP_005249641;XP_005249642 Hs.192215 1643704;1656579;1675862;1683261;1758073;1764905;1795314;1848973;1848975;2125198;2126279;2130382;2142484;2160364;2184085;5022578;5024039;7186078 A001Y39;A008R05;ADCY1_682;AFM158xb12;D16S325;D1S1423;D7S536E;G19797;RH80785;RH99222;SHGC-147274;SHGC-148462;SHGC-57854;STS-R59992;STS-Z41290;WI-11127;WI-18399 AC1;DFNB44 3',5'-cyclic AMP synthetase;ATP pyrophosphate-lyase 1;Ca(2+)/calmodulin-activated adenylyl cyclase;OTTHUMP00000207996;adenyl cyclase;adenylate cyclase type 1;adenylate cyclase type I;adenylyl cyclase 1 APPROVED protein-coding ENSG00000164742 HGNC:232 00053 103072;610154 REVIEWED 735837 ADCY6 adenylate cyclase 6 This gene encodes adenylate cyclase 6, which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). The expression of this gene is found in normal thyroid and brain tissues, as well as some tumors; and its expression is significantly higher in one hyperfunctioning thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008] 12 12 12 q12-q13 47955885 47978715 - 49159975 49182820 - 48766192 48789037 - 1580863;1300048;2312469;2312654;2313211;2315006;2315004;2312656;6480464;6484113;6907045;8554872 10894801;15579502;17010343;18431594;18948702;18971210 10089566;10481931;10807185;10808179;10978539;11162902;11299302;11549699;11884542;12168954;12477932;12503609;12626323;12748066;12782409;14871025;14993377;15302935;15470083;15489334;16631311;16713569;16885208;16973443;17007567;17081159;17110384;17916776;18403039;18936250;19007881;19546162;20732959;20861226;21139048;21228062;2165385;21890473;7937899;7959689;8034296;8125298;8663304;9228084;9388262;9417641;9455477;9920805 112 F8VZJ5;O43306 AB007882;ABBA01031485;ABBA01031486;ABBA01031487;AC117498;AF250226;AF250227;AK225224;AK294446;AMYH02026426;AMYH02026427;BC064923;BF511227;BX537664;CH471111;NM_015270;NM_020983;U65474;XM_005268605;XM_006719209;XM_006719210;XM_006719211;XM_006719212;XM_006719213 AAD00122;AAF82478;AAF82479;BAA24852;BAG57685;EAW58001;EAW58002;NP_056085;NP_066193;O43306;XP_005268662;XP_006719272;XP_006719273;XP_006719274;XP_006719275;XP_006719276 Hs.525401;Hs.694408 1767552;1795318;2155033;5015861;7185938 A006M44;ADCY6_211;D10S16;RH78534 AC6;DKFZp779F075;KIAA0422 ATP pyrophosphate-lyase 6;OTTHUMP00000243669;OTTHUMP00000243670;adenylate cyclase type 6;adenylate cyclase type VI;adenylyl cyclase 6;ca(2+)-inhibitable adenylyl cyclase APPROVED protein-coding ENSG00000174233 HGNC:237 02621 600294 REVIEWED 736882 ADCY5 adenylate cyclase 5 This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 3 3 3 q21.1 121410492 121574947 - 123001143 123167924 - 123282296 123449077 - 1300048;2315006;2312469;2315004;6480464;6484113;6907045;8699517;7240710 10894801;17010343;18948702 10089566;10481931;10807185;10808179;11299302;11549699;11590159;11884542;12503609;12604604;14702039;14993377;16641997;16973443;17110384;19783621;20081857;20081858;20231277;20372150;20419449;20484983;20490451;20571754;20889853;21115086;21307140;21712988;21789219;21887289;21890473;21949744;22250198;22505724;22581228;22693455;22956255;23202124;23251661;23278386;23841650;24700542;7759492;8034296;8206971;8663304;9268375;9275169;9748257 111 B3KWA8;B7Z2C7;C9JQ38;C9JRT8;F8WBM0;O95622 ABBA01016458;ABBA01016459;ABBA01016460;ABBA01016461;AC025571;AC112503;AF497517;AK093840;AK098381;AK124691;AK294565;AK302711;AK303070;AK316488;AMYH02007550;AMYH02007551;AMYH02007552;AMYH02007553;AMYH02007554;BK000371;BX647739;CH471052;NG_033882;NM_001199642;NM_183357;U65473;XM_005247077;XM_005247078;XM_006713483;XM_006713484 AAD00121;AAI56218;AAM94374;BAG52770;BAG54070;BAH11813;BAH13787;BAH13892;BAH14859;DAA00057;EAW79450;NP_001186571;NP_899200;O95622;XP_005247134;XP_005247135;XP_006713546;XP_006713547 Hs.593292 1337511;1685089;1731687;1761599;1764683;1765315;1766129;2134391;7185142;7187409 D3S1267;D3S1672;D3S2896E;RH91460;SHGC-145592;SHGC-148276;SHGC-148807;SHGC-149509 AC5;FDFM ATP pyrophosphate-lyase 5;OTTHUMP00000215640;OTTHUMP00000215641;OTTHUMP00000215642;OTTHUMP00000215643;adenylate cyclase type 5;adenylate cyclase type V;adenylate cyclase, type V;adenylyl cyclase 5 APPROVED protein-coding ENSG00000173175 HGNC:236 08973 600293;606703 REVIEWED 732499 ADCY3 adenylate cyclase 3 This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 24882356 24982363 - 25042038 25142602 - 24819169 24919733 - 70798;704368;1580863;2312469;6480464;6484113;6907045 12798295;18948702;2255909 10089566;10807185;10808179;11162902;11299302;11549699;11884542;12122055;12477932;12503609;12623444;12626323;12782409;14702039;14993377;15489334;15815621;16303743;16344560;17581954;17586501;17895882;18391951;19576885;19946888;20201924;20467438;20935630;21042317;21079816;21139048;2165385;21890473;21906983;21963094;21980299;22344219;22681560;23077041;23128233;23449627;23517042;23563607;23583978;24113161;24561123;7937899;7959689;8034296;8476432;8663304;8798667;9417641;9628581;9768837;9920776 109 C9J969;C9JLX3;C9JYB5;H7C1A6;H7C1S5;O60266;U3KQ91;U3KQR1 AB011083;ABBA01045122;ABBA01045123;AC012073;AF033861;AK027857;AK075424;AK095173;AK122926;AMYH02003424;BC020148;BC126235;BC144119;CH471053;DA864173;NM_004036;XM_005264102;XM_005264104;XM_005264105;XM_006711925;XM_006711926;XM_006711927 AAD13403;AAI26236;AAI44120;AAY14787;ADR83435;BAA25437;BAC11613;BAG51385;BAG52998;BAG53802;EAX00739;EAX00740;EAX00741;NP_004027;O60266;XP_005264159;XP_005264161;XP_005264162;XP_006711988;XP_006711989;XP_006711990 Hs.467898 1335258;1342376;1648033;1660957;1688118;1759405;1795316;1797268;1847858;2145529;5092800 A006F11;ADCY3_1034;ADCY3_2051;D17S757;D2S2168;D5S2617;G32338;RH36332;RH80427;SHGC-150739;WI-11275 AC-III;AC3;KIAA0511 ATP pyrophosphate-lyase 3;OTTHUMP00000119992;OTTHUMP00000201145;adenylate cyclase type 3;adenylate cyclase type III;adenylate cyclase, olfactive type;adenylyl cyclase 3;adenylyl cyclase, type III APPROVED protein-coding ENSG00000138031 HGNC:234 02620 600291 REVIEWED 736108 ADCY4 adenylate cyclase 4 This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] 14 14 14 q12 4652191 4668489 - 24787555 24804277 - 24318349 24335071 - 1580863;1300048;2312469;6480464;6484113;6907045;8554872 18948702 10089566;10807185;10808179;11055432;11299302;11549699;11884542;12477932;12503609;12626323;14702039;14993377;15489334;17081159;21228062;2165385;21890473;22505724;7766992;7959689;8663304;9417641 196883 G3V258;G3V262;H0YJ57;H0YLM0;H0YN72;Q86TZ7;Q8NFM4 ABBA01061341;AF086230;AF088070;AF497516;AK056745;AK122714;AK126468;AK131333;AL096870;AMYH02028880;BC015982;BC027943;BC117473;BC117475;BC143947;BX248285;BX537489;CH471078;NM_001198568;NM_001198592;NM_139247 AAH15982;AAI17474;AAI17476;AAM94373;BAB71270;BAC86560;BAD18492;BAG53686;CAD62613;EAW66023;EAW66024;EAW66025;EAW66026;EAW66027;EAW66028;NP_001185497;NP_001185521;NP_640340;Q8NFM4 Hs.443428 1678505;1679333;2191647 MARC_3911-3912:996679167:1;RH91896;RH93999 AC4 ATP pyrophosphate-lyase 4;OTTHUMP00000164788;OTTHUMP00000246779;OTTHUMP00000246890;adenylate cyclase type 4;adenylate cyclase type IV;adenylyl cyclase 4 APPROVED protein-coding ENSG00000129467 HGNC:235 11614 600292 REVIEWED 1312370 ADCY9 adenylate cyclase 9 Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 4219322 4372878 - 4012650 4166186 - 3962649 4116185 - 1358365;1580863;2312469;6480464;6484113;6907045;8554872 11840511;18948702 10089566;10807185;10808179;11299302;11884542;12082561;12168954;12477932;12503609;12626323;12972952;14702039;14993377;14996950;15879435;16344560;17081983;19156168;20101707;20157112;20175803;20459687;20522523;20935630;2165385;21890473;21906983;21963094;21987572;22778270;23563607;24250222;24269684;8662814;8663304;9417641;9628581;9628827 115 I3L300;I3L342;I3NI20;O60503 AB011092;ABBA01026755;ABBA01026756;ABBA01026757;AC005736;AF036927;AJ133123;AK022108;AMYH02031308;AMYH02031309;AMYH02031310;AMYH02031311;AMYH02031312;AMYH02031313;AMYH02031314;AMYH02031315;AU141090;AW518323;AY028959;BC068612;BC136657;BC136658;BC151207;BC151229;BI770493;BQ614080;CH471112;DQ005545;DQ008441;KF454950;KF456147;KF456149;KF456154;NG_011434;NM_001116;XM_005255079 AAC24201;AAI36658;AAI36659;AAI51208;AAI51230;AAK29464;AAY21237;AAY27880;BAA25446;CAB65084;EAW85331;EAW85332;NP_001107;O60503;XP_005255136 Hs.391860;Hs.610484 1340965;1683249;1688909;1697078;1722865;1773695;1795320;2127655;2128121;2134551;2144352;2149761;2166852;2172756;2187078;5014039 1952;ADCY9_213;D16S2995;D16S3027;D16S3328;D16S758;D22S1584;G35540;G35896;G60525;RH102020;RH15630;RH47122;RH64918;RH68479;STS-Z40718 AC9;FLJ12046 ATP pyrophosphate-lyase 9;adenylate cyclase type 9;adenylate cyclase type IX;adenylyl cyclase 9;type IX ATP pyrophosphate-lyase APPROVED protein-coding ENSG00000162104 HGNC:240 04489 603302 REVIEWED 733733 ADCY8 adenylate cyclase 8 (brain) Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008] 8 8 8 q24 127969937 128230969 - 131792546 132053012 - 130780300 131040766 - 1580863;1300048;2312469;6480464;6484113;6907045;8554872 18948702 10075700;10089566;10807185;10808179;11076863;11299302;11457491;11884542;12477932;12503609;12626323;12890691;1427768;14993377;16258073;16613843;17110338;1715695;17586501;18163389;18480272;19029295;19156168;19171672;19691954;20379614;20410303;20675917;20677014;21046358;21116278;2165385;22494970;23200849;23278386;7937899;8076676;8163524;8476432;8663304;9417641 114 E5RFR2;E7EVL1;P40145;Q4F7X0 ABBA01014221;ABBA01014222;ABBA01032442;ABBA01032443;AC011974;AC037453;AC087341;AC103726;AMYH02018793;AMYH02018794;AMYH02018795;CH471060;DQ104739;DR003657;M83533;NM_001115;XM_005250769;XM_006716501;Z35309 AAA35523;AAI11457;AAZ13596;CAA84552;EAW92135;NP_001106;P40145;XP_005250826;XP_006716564 Hs.591859 1340426;1653579;1717851;1721875;1763807;1764845;1786884;5094380;5109507;5125367 D8S1092;D8S1208;D8S1765;G54644;G59968;RH122757;SHGC-147478;SHGC-148407;SHGC-36821;SHGC-85246 AC8;ADCY3;HBAC1 ATP pyrophosphate-lyase 8;OTTHUMP00000227393;OTTHUMP00000227394;adenylate cyclase type 8;adenylate cyclase type VIII;adenylyl cyclase 8;adenylyl cyclase-8, brain;ca(2+)/calmodulin-activated adenylyl cyclase APPROVED protein-coding ENSG00000155897 HGNC:239 00051 103070 REVIEWED 732730 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] 18 18 18 p11 779552 786777 + 904366 912173 + 904365 912172 + 1300256;1580863;2325295;2315956;2325258;2325308;2325255;2315964;2325309;2325314;2325306;2325298;6480464 11687615;14742740;15698618;15702783;15913892;16689670;16888218;18563302;19427307;19647005;9864055 10562300;10583729;10698193;10921074;11175907;11350957;11515750;11713978;11968092;11972030;12145407;12409223;12409225;12417650;12429744;12477932;12504599;12573802;12686458;12716746;12754213;12948842;1335692;1483839;15036651;15048918;15356166;1544422;15489334;15518890;15834139;16148159;16226889;16344560;16493055;16687279;16697281;16805430;16888207;16939974;17175032;1730060;17387318;1739432;17430174;17431645;17470806;17962362;18349695;18353507;18782879;19086053;19120039;19269029;19470168;19701709;19712974;19805477;19914336;19926922;20034524;20072116;20133634;20180986;20414143;20468064;20500521;20554694;20671407;20675276;21109983;21259400;21350482;21383633;21388403;21898124;22108610;22415357;22539193;22581436;22610912;22638857;22644900;22648511;2302217;23147486;23220033;23251661;23517078;23598374;24041830;24220567;24696141;24719484;7680413;8146174;8253796;8353512;8504103;8577931;9313778;9346858;9603988 116 P18509;Q53BH6 AB537500;ABBA01049825;AK294233;AK313050;AMYH02034197;AP000894;AY592943;AY592948;BC093837;BC101803;CH471113;DA145895;DC320719;DN991692;NM_001099733;NM_001117;S83513;X60435;XM_005258081;Z64808 AAB21470;AAH93837;AAI01804;AAT92256;AAT92261;BAG35881;BAH11708;BAJ09301;CAA42962;EAX01706;NP_001093203;NP_001108;P18509;XP_005258138 Hs.531719;Hs.727476 1649056;1740239;1742467;1852907;2170442;2218980 ADCYAP1__4255;D18S1079;D18S1231;D18S1372;GDB:197131;RH17915 MGC126852 OTTHUMP00000162201;PACAP;adenylate cyclase activating polypeptide 1;pituitary adenylate cyclase-activating polypeptide;prepro-PACAP 2314813 INSUL28_H APPROVED protein-coding ENSG00000141433 HGNC:241 02369 102980 REVIEWED 735780 ADCY7 adenylate cyclase 7 This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013] 16 16 16 q12.1 34836237 34866457 + 50278830 50352046 + 50244919 50318135 + 1298709;1580863;2312469;6480464;6484113;6907045;8554872 18948702;7860067 10089566;10807185;10808179;11113152;11299302;11665607;11884542;12454008;12477932;12503609;12626323;14702039;14993377;15342556;15489334;15581358;16344560;17135423;17760784;18541530;19008230;19874574;21139048;21481845;2165385;21822266;21890473;21988832;22264442;22505724;23000965;23128233;7584026;7584028;7937899;8663304;9034014;9417641 113 B3KSJ0;F5H4D1;F5H699;H3BMA5;H3BQ93;I3L2Y1;I3L3Q5;P51828;Q86YI0 AA740624;ABBA01000875;AC007597;AK093706;AMYH02032012;BC039891;BC098566;BC126271;BC144120;BM543987;BP270410;BU631614;CH471092;D25538;DA047753;KF456186;NM_001114;NM_001286057;XM_005255779;XM_005255780;XM_005255781;XM_005255782;XM_005255783;XM_005255784;XM_005255785;XM_005255786;XM_006721128 AAH39891;AAI26272;BAA05021;BAG52752;EAW82753;EAW82754;EAW82755;NP_001105;NP_001272986;P51828;XP_005255836;XP_005255837;XP_005255838;XP_005255839;XP_005255840;XP_005255841;XP_005255842;XP_005255843;XP_006721191 Hs.513578 1663926;1679101;1744507;1764339;1766379;2170456;2175281 D16S2967;G10670;GDB:511421;RH25275;SHGC-147943;SHGC-149723;SHGC-60768 AC7;FLJ36387;KIAA0037 ATP pyrophosphate-lyase 7;OTTHUMP00000164225;adenylate cyclase type 7;adenylate cyclase type VII;adenylyl cyclase 7 APPROVED protein-coding ENSG00000121281 HGNC:238 02663 600385 REVIEWED 7252953 ADD3-AS1 ADD3 antisense RNA 1 10 10 10 105436996 105449340 - 111705317 111768139 - 109945559 110008381 - 20460270;9417904 100505933 ABBA01063037;ABBA01063038;ABBA01063039;AI286215;AI425042;AL162613;AL354951;AMYH02023792;BU561061;BX537640;DB460870;LN608360;NR_038943;U92992 Hs.604103 1686722;5022578 D1S1423;RH92969 ncrna HGNC:48682 VALIDATED 736575 ADD2 adducin 2 (beta) Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010] 2 2 2 p13.3 70739895 70846052 - 70888334 70995375 - 70662084 70768243 - 1298717;1625293;1331525;1300257;1580863;6480464;7174725;8554872 10845937;15118671;16497648;1840603;19838659 10485892;11526103;12427140;12477932;12653680;12951058;14517477;14553963;15146197;15345747;15489334;15528469;15716695;15815621;15834281;15963851;16105548;16116087;16344560;17301826;17854487;18003638;18347014;18667944;18787518;18959617;19460752;19913121;20379614;20628086;21139048;21606488;21697133;21832049;24129186;24816145;3693401;7490111;7642559;7707875;7999065;8563174;8566798;8626479;8810272;8889549;9244430;9679146 119 C9J080;C9J299;C9JJK3;C9JTM0;P35612;Q05DK5 AB209227;AB593080;ABBA01075539;ABBA01075540;AC005234;AC007395;AF001597;AF486420;AF486421;AF486422;AF486423;AK291007;AK297250;AK309773;AMYH02004041;AMYH02004042;AMYH02004043;BC008709;BC010237;BC011416;BC027876;BC041666;BC051882;BC056881;BC065525;BX119247;CH471053;CN428088;DA501584;N53078;NG_029481;NM_001185054;NM_001185055;NM_001617;NM_017482;NM_017488;S81079;S81083;U43959 AAA86421;AAD12715;AAD14349;AAH08709;AAH10237;AAH41666;AAH51882;AAH56881;AAH65525;AAP71863;AAP71864;AAP71865;AAP71866;BAD92464;BAF83696;BAG59729;BAJ84020;EAW99798;EAW99799;EAW99800;EAW99801;EAW99802;EAW99803;EAW99804;EAW99805;EAW99806;EAW99807;EAW99808;NP_001171983;NP_001171984;NP_001608;NP_059516;NP_059522;P35612 Hs.188528 1644444;1649706;1755201;2122862;2157692;2173258;2178650;2181360 A004B15;IB387;RH12820;SHGC-142110;SHGC-30541;WI-11693;WI-13671;WI-4105 ADDB OTTHUMP00000160123;OTTHUMP00000160124;OTTHUMP00000203376;OTTHUMP00000203377;OTTHUMP00000203378;OTTHUMP00000203908;OTTHUMP00000203909;OTTHUMP00000203961;adducin 2, beta;beta adducin;beta-adducin;erythrocyte adducin subunit beta APPROVED protein-coding ENSG00000075340 HGNC:244 00037 102681 REVIEWED 735411 ADD3 adducin 3 (gamma) Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008] 10 10 10 q25.2 105497404 105626995 + 111765627 111895323 + 110005869 110135565 + 1300354;1300258;1580863;2317717;6480464;8554872 10485892;12810632;15329129 10581174;11895774;12477932;15489334;15561718;15716695;15834281;15963851;16385451;17081983;18475162;18667944;18787518;19913121;20379614;20460270;20628086;20810786;21139048;21164023;21890473;23000965;23275563;23333304;23752268;23814265;23836506;23872602;24104524;24457600;24816145;2503523;8125298;8893809 120 Q5VU08;Q9UEY8 AB209810;ABBA01063035;ABBA01063036;ABBA01063037;AK130789;AK223270;AK291488;AL162613;AL590628;AL600737;AMYH02023792;AMYH02023793;AMYH02023794;BC021694;BC043143;BC057285;BC062559;BI544596;BX647403;BX647442;BX648016;CF457028;CH471066;D67031;EF553523;NM_001121;NM_016824;NM_019903;U37122;XM_005269529;XM_005269530;XM_005269531;XM_005269533;XM_005269534;XM_005269535;XM_006717626;XM_006717627;XM_006717628;XM_006717629;Y14372 AAB17126;AAH62559;BAA23783;BAD93047;BAD96990;BAF84177;CAB51805;CAB51806;CAI46048;EAW49571;EAW49572;EAW49573;EAW49574;NP_001112;NP_058432;NP_063968;Q9UEY8;XP_005269586;XP_005269587;XP_005269588;XP_005269590;XP_005269591;XP_005269592;XP_006717689;XP_006717690;XP_006717691;XP_006717692 Hs.501012 1337825;1651973;1661046;1669799;1671050;1687361;1700852;1716547;1716567;1753905;1848871;2110953;2115276;2129281;2133806;2139465;2170136;2171552;2180410;2218186;5037552;5116670;5491728;7183183 1186;A007G14;A008R19;ADD3;ADD3__4199;D10S1199;D10S2337;D10S408E;D10S543;D8S2279;HSC2MD022;RH104052;RH121559;RH121628;RH44681;RH47300;RH78354;RH79633;SHGC-108129;SHGC-33439;STS-AA018233;STS-N93746;sY3122 ADDL OTTHUMP00000020462;OTTHUMP00000020463;OTTHUMP00000020464;adducin 3, gamma;adducin-like protein 70;gamma-adducin APPROVED protein-coding ENSG00000148700 HGNC:245 03339 601568 REVIEWED 736792 ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010] 7 7 7 p14 31081020 31135194 + 31092076 31151093 + 31052461 31111479 + 1580863;2315956;2315964;6480464;8554872 18563302;19647005 10235634;10562300;10583729;10698193;10764955;11930171;11959368;12036966;12409223;12409233;12477932;12573802;12690205;12732341;12948842;14702039;14742913;15518890;15670850;16226889;16344560;16372333;16401644;16572459;16805430;16823490;16888199;16939974;17470806;18240029;18353507;18577758;19086053;19269029;19926922;20026142;20395540;21185349;21350482;21621269;21912390;22539193;22581436;22609358;22776899;22961270;23147486;23280952;23328528;23394710;23505260;23818986;24220567;24516127;24696141;7851900;7902709;8253796;8663363;8703026;8770902;8933357;8954788;9543159 117 C9JVH3;E9PFU5;H0Y813;P41586 AACC02000087;AB065700;ABBA01056815;ABBA01056816;ABBA01056817;AC006466;AI815550;AK096545;AK124304;AK226138;AK290046;AMYH02015460;AMYH02015461;AY366498;AY462278;AY462279;AY495951;AY495952;BC117116;BC136267;BC143679;BX538156;CA432770;CH471073;DA809763;KF510285;KF511015;KF511016;NG_029869;NM_001118;NM_001199635;NM_001199636;NM_001199637;U09216;XM_005249618;XM_006715645;XM_006715646;XM_006715647;XM_006715648 AAA19323;AAI17117;AAI36268;AAI43680;AAQ72806;AAR26314;AAR26315;AAR87870;AAR87871;BAC05923;BAF82735;EAL24444;EAW93978;NP_001109;NP_001186564;NP_001186565;NP_001186566;P41586;XP_005249675;XP_006715708;XP_006715709;XP_006715710;XP_006715711 Hs.377783 1774797;1854017;2111083;2117148;2137163;2158814;2170251;2170253 A001T12;ADCYAP1R1;BCD1665;D7S604E;G19621;RH66404;T03315;WI-11192 PAC1;PAC1R;PACAP-R-1;PACAP-R1 OTTHUMP00000123435;OTTHUMP00000202503;OTTHUMP00000202504;OTTHUMP00000202505;PACAP receptor 1;PACAP type I receptor;PACAPR;PACAPRI;adenylate cyclase activating polypeptide 1 (pituitary) receptor type 1;adenylate cyclase activating polypeptide 1 receptor 1;pituitary adenylate cyclase activating polypeptide 1 receptor type I Hiphop;pituitary adenylate cyclase-activating polypeptide type I receptor APPROVED protein-coding ENSG00000078549 HGNC:242 00045 102981 REVIEWED 733925 ADD1 adducin 1 (alpha) Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 2756785 2842980 + 2845454 2931803 + 2843727 2930076 + 1298717;1302895;631736;1331525;1624953;1580863;1559299;5147993;5147995;5147999;5147996;5147998;5148000;5148001;6480464;7174725;7240710 11226670;11775124;15118671;15474463;16100725;16420563;17051589;17082469;1840603;18679149;19731222;19838659;8543181;9149697 10209029;10391210;10516168;10585876;10823823;10950304;11110979;11116113;11283377;11447495;11518842;11528213;11711521;11728946;11847182;11882573;11918733;11918988;11926892;12052841;12082592;12107246;12107410;12172317;12195118;12195119;12394950;12427140;12477932;12623934;12697976;1284592;12885793;1345173;13679477;14508192;14530292;14553962;14643575;14733918;15039125;15055253;15059531;15097233;15110895;15187197;15302935;15326084;15378162;15493144;15554870;15608390;15716695;15773232;15815621;15822905;15824464;15834281;15910744;16043664;16080807;16266470;16289097;16314886;16392768;16450155;16497648;16531798;16612256;16615274;16702981;16724011;16970091;17003363;17074803;17081983;17083073;17189961;17215849;17267840;17301826;17452507;17472579;17765140;17825147;17921817;17984662;18003973;18393230;18398333;18413308;18458162;18475162;18513389;18524856;18591455;18657677;18660489;18667944;18787518;18800139;18977990;19047752;19057513;19103106;19131662;19145769;19145770;19148102;19166692;19199261;19238444;19242491;19243623;19247266;19263529;19274077;19443911;19479237;19559392;19567882;19574959;19620885;19729965;19779330;19779464;19913121;19960031;20145305;20160191;20237496;20473689;20536507;20565774;20577119;20628086;20667857;20810786;20838486;20877298;20927398;20929695;21139048;21194526;21228790;21339657;21364877;21736685;21900206;21906983;22117679;22163289;22197999;22198647;22272309;22307086;22476228;22677360;22678362;22810272;23000965;23284854;23383273;23509723;23540412;23691048;23863317;23985264;24332808;24379415;24816145;2976282;3600811;3693401;7490111;7642559;7774961;7959767;8626479;8663089;8810272;8889548;8946164;9674650;9679146 118 D6RAH3;D6RF25;D6RJE2;E7ENY0;E7EV99;H0Y9H2;H0YFD8;H0YG19;P35611 ABBA01029483;ABBA01029484;ABBA01029485;AK025413;AK295457;AK298523;AK309186;AL121750;AL390065;AMYH02008620;AMYH02008621;AMYH02008622;BC013393;BC042998;BI460192;BU729599;BX465861;CA391117;CH471131;CR936693;CR995783;CX783962;D44632;L07261;L29296;NG_012037;NM_001119;NM_001286645;NM_014189;NM_014190;NM_176801;S70310;S70312;XM_005247933;XM_005247934;XM_005247935;XM_005247936;XM_005247937;Z68280;Z74617 AAB05645;AAB30913;AAH13393;AAH42998;BAG58391;BAG60726;CAA98970;CAI95603;CAM28230;CAM28231;CAM28232;EAW82498;EAW82499;EAW82500;EAW82501;EAW82502;EAW82503;EAW82504;EAW82505;NP_001110;NP_001273574;NP_054908;NP_054909;NP_789771;P35611;XP_005247990;XP_005247991;XP_005247992;XP_005247993;XP_005247994 Hs.183706 1644926;1656651;1666748;1668411;1735372;1742469;2115182;2129196;2129469;2137112;2146523;2162629;2171251;5020414;5022578;5024756 D1S1423;D4S2503E;G16715;G21856;GDB:197234;IB433;L17688;RH80030;SGC38240;SHGC-31191;SHGC-50709;SHGC-59534;SHGC-59535;SHGC-59864;SHGC-67376;SHGC-67653 ADDA;MGC3339;MGC44427 OTTHUMP00000151163;OTTHUMP00000151164;OTTHUMP00000151165;OTTHUMP00000218664;OTTHUMP00000218665;adducin 1, alpha;alpha-adducin;erythrocyte adducin alpha subunit;erythrocyte adducin subunit alpha APPROVED protein-coding ENSG00000087274 HGNC:243 00036 102680;145500 REVIEWED 1352182 ADFN albinism-deafness syndrome ASSOCIATED WITH Albinism deafness syndrome (inferred) 7240710 122 HGNC:247 300700 1349763 ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010] 4 4 4 q23 97494786 97509404 - 100197523 100212185 - 99276366 99291028 - 1580863;6480464;6907045;8554872 10424757;11303599;11329013;11356310;12050823;12081471;12392591;12477932;14634838;15279067;15489334;16153155;1620113;16685648;16712791;17185388;17632320;18331377;18510611;18828806;19124506;19193628;19343046;19526455;19618839;19687126;19874574;19913121;20628086;20634891;20872569;2169444;21988832;23456092;23468174;2347582;23769565;23891545;2737681;2920825;2935875;3006456;3013304;9982 124 P07327 ABBA01063673;AC097530;AK290558;AK309597;AMYH02009796;AY948115;BC074738;BC117442;BC126306;BG199182;BT019812;CB116632;CH471057;M12271;M12963;M32656;M37066;NM_000667 AAA51590;AAA51591;AAA52276;AAA68131;AAH74738;AAI17443;AAI26307;AAV38615;AAX20115;BAF83247;EAX06093;EAX06094;NP_000658;P07327 Hs.654433 1683154;2141220;2142432;5119905 D4S570;GDB:187387;L00769;SHGC-51373 ADH1 ADH, alpha subunit;OTTHUMP00000161653;alcohol dehydrogenase 1 (class I), alpha polypeptide;alcohol dehydrogenase 1A;alcohol dehydrogenase subunit alpha;aldehyde reductase APPROVED protein-coding ENSG00000187758 HGNC:249 00063 103700 REVIEWED 1344715 ADH5P1 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1 1446828 129 HGNC:254 1351578 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008] 4 4 4 q23 97289594 97307408 - 99992129 100009931 - 99070978 99088788 - 1580863;5128886;5128891;5128882;5128890;5129088;5129091;5128892;6480464;6907045;8554872 15919956;17543375;19395503;19514054;19806079;20431245;8462548 10661511;10978156;11368338;12004059;12141816;12196016;12477932;12484756;1446828;1453005;14608084;14702039;15123239;15489334;1577708;16169070;16344560;16685648;17185388;18095160;18331377;18636124;18996923;19056867;19165527;19596685;19874574;19898482;20158305;20308539;20335826;20371487;20634891;20677014;20819778;21139048;21832049;21890473;21906983;21920416;21963094;21988832;22335564;22505724;23000965;23251661;23285246;23355119;23456092;23468174;23752268;24097068;24816145;24895131;2679557;2818582;2934732;2936344;3365377;6375718;6424546;7948423;8460164;8494891;8503936;9018047 128 D6R9G2;D6RAY0;D6RD54;D6RFE4;H0YAG8;P11766;Q6IRT1 ABBA01063669;AC019131;AK124994;AK129570;AK312367;AMYH02009795;AY987960;BC014665;BC070491;BQ881561;BT019832;BT019833;CH471057;CR536491;CR541689;DA737788;M29872;M30471;M81112;M81118;NM_000671 AAA51596;AAA51597;AAA79018;AAH14665;AAH70491;AAV38635;AAV38636;AAX81412;BAG35285;CAG38730;CAG46490;EAX06084;EAX06085;EAX06086;NP_000662;P11766 Hs.78989 1795322;1858368;2132047;2183555 ADH5_690;SHGC-67905;WI-14387;WI-18933 ADH-3;ADHX;FALDH;FDH;GSH-FDH;GSNOR OTTHUMP00000219913;S-(hydroxymethyl)glutathione dehydrogenase;alcohol dehydrogenase (class III), chi polypeptide;alcohol dehydrogenase class chi chain;alcohol dehydrogenase class-3;alcohol dehydrogenase class-III;formaldehyde dehydrogenase;glutathione-dependent formaldehyde dehydrogenase APPROVED protein-coding ENSG00000197894 HGNC:253 00064 103710 REVIEWED 1343309 ADGB androglobin ENCODES a protein that exhibits calcium-dependent cysteine-type endopeptidase activity (inferred); heme binding (inferred); iron ion binding (inferred); INVOLVED IN oxygen transport (inferred); proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular (inferred); INTERACTS WITH potassium dichromate 6 6 6 q24.3 147660570 147877021 + 146920136 147136598 + 146598965 146815462 + 6480464;8554872 11329013;14574404;14702039;22019778;22115833 79747 E5RFN4;E5RG76;E5RGD1;E5RIM8;F8W7W4;H0Y333;H0Y334;H0YBE5;H0YC38;Q8N7X0;Q9H5S1 ABBA01025720;AK026774;AK097570;AL138916;AL158199;AL359547;AL832192;AMYH02014655;AMYH02014656;BG199812;CH471051;DN831198;NM_024694;XM_006715566 BAB15549;BAC05106;EAW47827;EAW47830;NP_078970;Q8N7X0;XP_006715629 Hs.720870 1644548;1749657;2137173;2148627 RH46623;SHGC-111339;WI-11840;WI-16660 C6orf103 OTTHUMP00000225365;calpain-7-like protein APPROVED protein-coding ENSG00000118492 HGNC:21212 614630 PROVISIONAL 1348288 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 q23 97524703 97539748 - 100227527 100242572 - 99306387 99321442 - 1580863;6480464;6907045;7240710;8554872 10424757;10733556;11051375;11117576;11238183;11259352;11274460;11398342;11410735;11584144;11696658;11748356;11781503;11781511;11966948;12080432;12081471;12089173;12153842;12173598;12189549;12211622;12213289;12244546;12351924;12419833;12452180;12461493;12477932;12505800;12517056;12519453;12545748;12554615;12658118;12668919;12710951;12713190;12777946;12824748;12884000;12915514;12915519;14634838;14693654;14745297;14768474;15084894;15162847;15220553;15318096;15318112;15327835;15342556;15456134;15489334;15511718;15519646;15534263;15542751;15597094;15842823;15863807;15886702;15902904;15957670;16006997;16078602;16086315;16117582;16127737;16135443;16163053;16184481;16235983;16307179;16309369;16324524;16332725;16358724;16385179;16404797;16423594;16440362;16520888;16600530;16608143;16685648;16702384;16737450;16758956;16822169;16930209;16958672;16970620;17036331;17071628;17134659;17134660;17180580;17185388;17207821;17250612;17268812;17279314;17285601;17289126;17292341;17293864;17295732;17421009;17454860;17471563;17486761;17489985;17515815;17517051;17559546;17618743;17631643;17762315;17847010;17850643;17885622;17923853;17963305;18033686;18049455;18056758;18078815;18216179;18254707;18266839;18299763;18322963;18331377;18336668;18336671;18382665;18439068;18500343;18510611;18516948;18715275;18761854;18763293;18773092;18782342;18784359;18818748;18936436;1896463;18996923;19019335;19068087;19094228;19124091;19124506;19164089;19185835;19193628;19250143;19262484;19298323;19339270;19343046;19365573;19403456;19420105;19449376;19452585;19469618;19486361;19527514;19550411;19618839;19655364;19667493;19687126;19698717;19706845;19751749;19769429;19799139;19812523;19826048;19860798;19861527;19874574;19887496;19898482;19913121;19948975;20010786;20025435;20031627;20077761;20101753;20140262;20171022;20180859;20205700;20219057;20336794;20357489;20401433;20403997;20437850;20462248;20477764;20477767;20494945;20568895;20598484;20628086;20634891;20685249;20700531;20806441;20833657;21048924;21133627;21157980;21166830;21168396;21284671;21303386;21351086;21355870;21378355;21437268;21497796;21517275;21576033;21601984;21635275;2169444;21895720;21917409;21968928;21988832;22004471;22048268;2210383;22150722;22231434;22287615;22292652;22325912;22363810;22560290;22674868;22690706;22703580;22930414;22931071;2295648;22960999;23149980;23266708;23285246;23296215;23414439;23456092;23468174;2347582;23550892;23615284;23701534;23743675;23806636;23824954;23895337;23915245;23969552;2398055;24217933;24334570;24446180;24553426;25011450;2547609;2679216;2737681;2935533;2935875;2986130;3000832;3006456;3397059;3619918;6374651;6391920;8201622;8663387;8889548;9982 125 D6RHZ6;P00325;V9HW50 ABBA01063673;AC097530;AF040967;AF153821;AI702614;AK299409;AK301018;AK303945;AK304396;AK311712;AK316501;AMYH02009796;BC033009;BP317995;BU687181;BX641105;BX647469;CH471057;D00137;DC392123;DQ017646;FJ224285;L38290;M21692;M24308;M24316;M24317;M32657;NG_011435;NM_000668;NM_001286650;X03350;X15447;XM_006714079 AAA51592;AAA51884;AAA52277;AAB48003;AAB59496;AAB96912;AAD37446;AAH33009;AAY22180;ACI45977;BAA00084;BAG61391;BAG62635;BAG64873;BAG65231;BAH14872;CAA27056;CAA33487;EAX06095;EAX06096;EAX06097;EAX06098;NP_000659;NP_001273579;P00325;XP_006714142 Hs.4 1657121;1658676;1715693;1722425;1740883;2113518;2126357;2130783;2187217;5015861;5037552;5119905;5125319;7185938 ADH1B_V67;D10S16;D4S2817;D8S2279;G60286;GDB:170161;GDB:187387;RH119293;SHGC-35417;SHGC-50678;SHGC-59546;SHGC4-136;STS-X15447 ADH2;DKFZp686C06125;HEL-S-117 ADH, beta subunit;OTTHUMP00000220192;alcohol dehydrogenase 1B;alcohol dehydrogenase 2 (class I), beta polypeptide;alcohol dehydrogenase subunit beta;aldehyde reductase;epididymis secretory protein Li 117 APPROVED protein-coding ENSG00000196616 HGNC:250 00065 103720;103780 REVIEWED 1344246 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq, Jul 2008] 4 4 4 q23 97554804 97571075 - 100257649 100273917 - 99336492 99352760 - 1559302;1580863;2325313;6480464;6907045;7240710;8554872 14726542;19068087 10405330;10424757;11045794;11051375;11159741;11207350;11274460;11303599;11696658;11700261;11740346;11748356;11752857;11802217;11966948;12173598;12376487;12477932;12500098;12505800;12517056;12554615;12631283;12658118;12668919;12710951;12713190;12750236;12782305;12884000;12915519;14608084;14634838;14691069;14693654;14732773;14745297;15138216;15220553;1524834;15318112;15327835;15370874;15375565;15489334;15511718;15519646;15642852;15643610;15654505;15734975;15767341;15842377;15863807;15897724;15902904;15910847;15941567;16018848;16039674;16051248;16086315;16117582;16132793;16184481;16239350;16287084;16344274;16415175;16440362;16600530;16675441;16685648;16712791;16737450;16758956;16801984;16930209;17018785;17071628;17134660;17185388;17268812;17285601;17295732;17379229;17421009;17449906;17454860;17517051;17543846;17559142;17563066;17629074;17631643;17665311;17885622;17923853;18043297;18254707;18266839;18268116;18331377;18510611;18676680;18761854;18773092;18818748;18846501;18936436;1896463;18996923;19019335;19038239;19120062;19124506;19170196;19189524;19193628;19339270;19343046;19447389;19486361;19527514;19550411;19581569;19618839;19625176;19692168;19812523;19861527;19874574;19887496;19898482;19913121;19948975;20031627;20101753;20171022;20180013;20205700;20301387;20301402;20350778;20357489;20401433;20437058;20437850;20448861;20453000;20477767;20494945;20568895;20615890;20628086;20634891;20700531;20810466;21163612;21303386;21437268;21482329;2169444;21705789;21917409;22004471;22048268;22279680;22325912;22353233;22363810;22414625;22476623;22675424;22930414;22931071;23321361;23404349;23456092;23468174;2347582;23516558;23895337;24217933;2737681;2935875;3006456;3397059;3758060;6391921;6391957;7771649;8201622;9982 126 P00326;Q71V49 ABBA01063673;AC097530;AF031832;AMYH02009796;AMYH02009797;BC062476;BC066227;BC066228;BC067419;BC067420;BC067421;BC067422;BC074771;BC074786;CB114902;CD014078;CH471057;D11067;DA562068;DQ088981;KF459631;M12272;M32658;NG_011718;NM_000669;X04299;X04350 AAA52278;AAC05739;AAC41757;AAH62476;AAH66227;AAH66228;AAH67419;AAH67420;AAH67421;AAH67422;AAH74771;AAH74786;AAY68222;BAC06856;CAA27842;CAA27876;EAX06099;EAX06100;NP_000660;P00326 Hs.654537 1657121;1740881;1740883;2165776;5112009;5119905;5125319 D4S460;G44346;GDB:170160;GDB:170161;GDB:187387;SHGC-35417;SHGC-59546 ADH3 ADH, gamma subunit;OTTHUMP00000220209;alcohol dehydrogenase 1C;alcohol dehydrogenase 3 (class I), gamma polypeptide;alcohol dehydrogenase subunit gamma;aldehyde reductase APPROVED protein-coding ENSG00000248144 HGNC:251 00066 103730;103780;168600 REVIEWED 735489 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008] 4 4 4 q22 97342359 97362981 - 100044832 100065449 - 99123681 99144298 - 1300048;1580863;6480464;6907045;8554872 10407146;11009184;11279029;11752456;11900616;11916005;11964133;11997393;12477932;12631290;1362387;14745297;15369820;15489334;15863808;16220108;16237392;16787387;17069770;17207965;18029348;18331377;18801187;1889753;18996923;19182438;19193628;19343046;19687126;19861527;19874574;19898482;19925625;20363298;20453000;20462248;20626721;20634891;20800603;21184752;21480392;21635275;21832049;21988832;22044940;22147505;22232963;22960999;23456092;23468174;24051444;24449167;3036213;3466164;8032153;9570155 127 D6R9K8;D6RF43;D6RIB1;H0Y9N0;P08319 ABBA01063672;AC019131;AK290835;AK295556;AK313649;AMYH02009796;AP002026;AV659364;AY974245;BC022319;CH471057;EU668317;M15943;NM_000670;X56411;X56419 AAA51595;AAH22319;AAX59034;ACF94470;ADQ32176;BAF83524;BAG58459;CAA39813;EAX06088;EAX06089;NP_000661;P08319 Hs.1219 1771315;2149576 SHGC-35298;STS-X56411 ADH-2;HEL-S-4 OTTHUMP00000219911;OTTHUMP00000219912;OTTHUMP00000220033;alcohol dehydrogenase 4;alcohol dehydrogenase class II pi chain;aldehyde reductase;epididymis secretory protein Li 4 APPROVED protein-coding ENSG00000198099 HGNC:252 00068 103740 REVIEWED 1352662 ADH5P3 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3 1 1 1 q43 213588689 213590076 + 240333443 240334830 + 240170143 240171530 + 2294756;2818582 100131810 ABBA01033230;AL359918;AMYH02003017;NG_008686 1754147;2126932 D1S2600;SHGC-132176 pseudo HGNC:22991 INFERRED 1342585 ADH5P2 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 2 1 1 1 p31.1 78226348 78227746 + 79986754 79988152 + 79521069 79522467 + 23251661;2818582 343296 ABBA01074377;AL606527;AMYH02001325;NG_008685 pseudo HGNC:22976 INFERRED 1342497 ADH5P4 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4 6 6 6 q12 64710545 64713036 - 66545370 66547961 - 65835477 65838068 - 16201836;20800603;2818582 642443 Q2VIM7 ABBA01023930;AC216138;AL391500;AMYH02013833;DQ120656;NG_008303 ABB92441 1341737 D6S1551 ADH5B;RCADH5;bA707M13.2 pseudo HGNC:21377 INFERRED 1314863 ADH6 alcohol dehydrogenase 6 (class V) This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q23 97421068 97437673 - 100123795 100140403 - 99202638 99219246 - 1580863;6480464;6907045;8554872 10975466;11095947;12050823;12477932;14702039;1593644;16685648;17185388;1755855;1881901;19056867;19343046;19698717;19874574;20819778;2198032;21988832;22690706;23456092;23468174;23534349;7695785 130 B7ZAL1;D6RDN5;D6RH17;E9PBI1;H0Y8U2;P28332;Q8IUN7 ABBA01063672;ABBA01063673;AJ278908;AK092768;AK298290;AK316326;AMYH02009796;AP002026;AY962311;BC039065;CH471057;KF457794;M84402;M84409;NM_000672;NM_001102470;XM_005262731;XR_244619 AAA35509;AAH39065;AAX44051;BAG52607;BAG60550;BAH14697;CAC10399;EAX06090;EAX06091;NP_000663;NP_001095940;P28332;XP_005262788 Hs.586161 1671970;1773450 G33392;SHGC-12728 ADH-5 OTTHUMP00000161647;OTTHUMP00000161648;OTTHUMP00000161649;OTTHUMP00000220107;alcohol dehydrogenase 6;aldehyde reductase APPROVED protein-coding ENSG00000172955 HGNC:255 00067 103735 REVIEWED 1606699 ADIG adipogenin ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008] 20 20 20 q11.23 33920630 33927890 + 37209838 37217104 + 38581195 38588461 + 6480464 12477932;15567149;16132694 149685 A2A2E7;F5GXV4;H0Y829;Q0VDE8 AA974242;ABBA01052526;AL035419;AMYH02037062;BC029594;BC119704;BC119705;BX105371;CH471077;HC044655;NM_001018082 AAH29594;AAI19705;AAI19706;ABM82428;ABM85620;CBH30657;EAW76017;NP_001018092;Q0VDE8 Hs.368028 2169420 AL030966 KIAA1219;MGC149650;MGC39724;RP5-1100H13.2;SMAF1 OTTHUMP00000030970;adipogenesis associated;small adipocyte factor 1 (SMAF1) APPROVED protein-coding ENSG00000182035 HGNC:28606 18068 611396 VALIDATED 737541 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 q23-q24 97630520 97653769 - 100333418 100356667 - 99412261 99435510 - 1580863;6480464;6907045;8554872 10631979;10969996;11410738;11997393;12477932;14502680;15028279;15456134;1592118;16180008;16344560;16685648;17185388;17486761;17918242;17921519;18029348;18231859;18331377;18500343;19193628;19343046;19609347;19687126;19861527;19874574;19898482;20158305;20336794;20700531;20800603;21145461;21437268;23149980;23314748;23456092;23468174;23568457;7771649;7876099;7876191;7925371;8074657;8082805;8125298;8195208;8824810;8889548;9228021;9600267 131 C9JP14;E9PFG0;P40394 ABBA01063673;AK223472;AK301657;AK301696;AK310811;AK312854;AMYH02009797;AP001960;BC131512;BX476080;CA311897;CD014081;CD697521;CH471057;DB204496;DB350054;L33179;L47166;NM_000673;NM_001166504;S77168;U07821;U09623;U16286;U16293;X76342 AAA19002;AAA59211;AAA82165;AAB34478;AAB38424;AAC51351;AAI31513;BAG35707;BAG63133;BAG63168;CAA53960;CAA53961;EAX06101;NP_000664;NP_001159976;P40394 Hs.389 1690484;1765939;1777608;1858674 SHGC-12015;SHGC-149343;SHGC-67814;STS1AA ADH-4;ADH4 OTTHUMP00000214819;OTTHUMP00000214820;OTTHUMP00000214821;alcohol dehydrogenase VII;alcohol dehydrogenase class 4 mu/sigma chain;alcohol dehydrogenase class IV mu/sigma chain;alcohol dehydrogenase-7;class IV sigma-1 alcohol dehydrogenase;class IV sigmasigma alcohol dehydrogenase;gastric alcohol dehydrogenase;retinol dehydrogenase APPROVED protein-coding ENSG00000196344 HGNC:256 02515 600086 REVIEWED 1318880 ADHFE1 alcohol dehydrogenase, iron containing, 1 The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008] 8 8 8 q13.1 63336419 63372728 + 67344693 67384260 + 66432483 66468809 + 1580863;6480464;8554872 12477932;12592711;14702039;15221005;16435184;16616524;16712791;19013439;20877624;21988832;23517143 137872 B4DFI7;B4DV11;E5RFL4;F2Z2N0;F2Z3D8;F2Z3E5;Q8IWW8 AB075879;ABBA01041871;AC009879;AK056992;AK293530;AK294114;AK300243;AK300881;AMYH02018106;AY033237;BC047492;BC064634;BC110290;BE241883;BG698892;BQ182872;CB157325;CH471068;KF458771;NM_144650 AAH64634;AAK44223;BAB71335;BAD38661;BAG57012;BAG57448;BAG62010;BAG62523;EAW86901;EAW86902;EAW86903;EAW86904;EAW86905;EAW86906;EAW86907;NP_653251;Q8IWW8 Hs.720023 2140168;2161837;2185235;2216994 ADHFE1_3092;G27361;RH65944;SHGC-34586 ADH8;FLJ32430;HMFT2263;HOT;MGC48605 Fe-containing alcohol dehydrogenase 1;OTTHUMP00000196631;OTTHUMP00000196632;OTTHUMP00000211260;alcohol dehydrogenase 8;alcohol dehydrogenase iron-containing protein 1;hydroxyacid-oxoacid transhydrogenase, mitochondrial APPROVED protein-coding ENSG00000147576 HGNC:16354 12428 611083 VALIDATED 1602478 ADI1 acireductone dioxygenase 1 This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. [provided by RefSeq, May 2010] 2 2 2 p25.3 3555166 3576801 - 3501690 3523350 - 3497919 3519579 - 6480464;6907045 11602742;12477932;14702039;14718544;15221005;15489334;15815621;15938715;16344560;16712791;17207965;17212658;17353931;17786183;18029348;19626614;20379614;21139048;21832049;21963094;22505724;23824909;24250222;24816145;8125298 55256 H7C382;Q9BV57 AB073609;AB158319;ABBA01013723;AC114810;AC142528;AC231981;AF087863;AF403478;AK001775;AK127473;AK222467;AK225278;AMYH02003192;AMYH02003193;BC001467;CB129674;CH471053;DA559726;FB342953;FB711076;NM_018269;XM_005264696 AAH01467;AAL25800;AAP97173;AAX82038;AAY24022;ADQ33221;BAA91901;BAC86996;BAD10866;BAD38646;BAD96187;CAR81477;CAS91493;EAX01064;EAX01065;NP_060739;Q9BV57;XP_005264753 Hs.502773 1694566;2118297;5022651;5037552 D11S2921;D8S2279;G43260;RH12407 APL1;ARD;FLJ10913;Fe-ARD;HMFT1638;MTCBP-1;MTCBP1;Ni-ARD;SIPL;mtnD 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase;MT1-MMP cytoplasmic tail-binding protein-1;OTTHUMP00000140252;OTTHUMP00000216451;acireductone dioxygenase (Fe(2+)-requiring);acireductone dioxygenase (Ni(2+)-requiring);membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1;submergence induced protein 2;submergence-induced protein-like factor APPROVED protein-coding ENSG00000182551 HGNC:30576 17607 613400 REVIEWED 6481304 ADIPOQ-AS1 ADIPOQ antisense RNA 1 ASSOCIATED WITH Hypoadiponectinemia (inferred) 3 3 186569675 186573912 - 186851886 186856123 - 8554872 12477932;19165155;20018283 100874095 ABBA01058379;AC072018;AMYH02008352;BC036509;HG496473;NR_046662 Hs.638968;Hs.80485 1770624;5015861;5037552;7185938 D10S16;D8S2279;G29832 RP11-240O9.2 APPROVED ncrna ENSG00000226482 HGNC:40648 PREDICTED 1344545 ADIPOR1 adiponectin receptor 1 This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014] 1 1 1 q32.1 176039207 176056946 - 202909960 202927700 - 202940829 202958572 - 1331376;1625761;1625762;1625763;1625764;1625765;1580863;1642395;6480464;8694415;8695938;8694417;8695941;8695947;8694410;8694465 12802337;16326833;16415076;16483885;16823476;17285539;17391161;18451143;19723917;21397927;22387454;23533720;24028144;24669271 10810093;12477932;14651988;14702039;15105989;15277397;15331527;15454091;15489334;15757860;15918014;15983228;16023994;16043761;16044242;16139921;16205883;16443913;16505255;16601138;16609881;16622416;16678125;16700915;16724230;16793963;16899222;16955209;17001470;17003341;17006986;17054465;17118803;17123704;17207965;17209173;17216283;17416799;17426101;17459059;17697862;17712104;17716299;17878241;17911635;18097620;18163210;18294218;18310295;18313838;18466348;18548168;18599322;18622492;18660489;18713296;18719649;18827209;18842004;18854016;18923878;18982021;18988888;18996102;18996753;19010305;19037660;19051043;19109202;19120283;19144434;19196212;19208777;19233263;19322201;19453261;19487733;19524379;19536175;19549705;19631916;19671624;19672024;19727342;19887569;19909601;19913121;19946888;19948975;20032495;20059631;20071013;20074551;20120899;20125105;20129487;20332107;20336470;20432444;20470935;20628086;20682687;20696134;20697428;20712903;20875820;20938443;20952631;21150319;21195057;21273992;21284833;21289205;21321996;21331343;21351255;21538348;21632074;21749709;21750988;21761356;21890473;21900123;21960694;21963094;21980131;21988832;22049178;22050309;22078265;22082804;22087284;22106445;22186245;22227293;22265003;22340319;22495003;22534793;22633650;22767440;22842631;22907586;23255609;23293232;23351195;23355630;23358237;23358721;23386639;23388528;23500159;23656997;23756394;23762377;23813974;23860143;23860432;23922112;23922494;23971629;24096711;8125298 51094 C9J0W7;C9JNM5;F8W782;Q96A54 ABBA01027489;ABBA01027490;AC096632;AF125179;AF125180;AF151803;AI251444;AK001484;AK058114;AK124455;AK222503;AMYH02002507;AY424279;BC001594;BC010743;BI597715;BX461217;CH471067;DA523648;HC299099;HD061930;NM_001290553;NM_001290557;NM_001290629;NM_015999;NR_046083;XM_006711360;XM_006711361 AAD34040;AAH01594;AAH10743;AAQ13552;AAQ13553;AAR08367;ADQ32734;BAD96223;BAG50922;CBJ06650;CBS99526;EAW91449;EAW91450;NP_001277482;NP_001277486;NP_001277558;NP_057083;Q96A54;XP_006711423;XP_006711424 Hs.5298;Hs.713729 1850431;1850433;2129212;2135317;2149629 A006H25;G20811;RH16184;SHGC-34701;WI-18541 ACDCR1;CGI-45;CGI45;FLJ25385;FLJ42464;PAQR1;TESBP1A OTTHUMP00000038805;OTTHUMP00000038806;adiponectin receptor protein 1;progestin and adipoQ receptor family member I APPROVED protein-coding ENSG00000159346 HGNC:24040 06402 607945 REVIEWED 7205280 ADIPOR1P2 adiponectin receptor 1 pseudogene 2 14 14 14 q32.13 75156144 75156997 + 95100009 95100862 + 94633672 94634525 + 390503 ABBA01030412;AL049839;AMYH02029785;NG_022863 pseudo HGNC:44911 INFERRED 7241120 ADIRF-AS1 ADIRF antisense RNA 1 10 10 q23.2 82728498 82734069 - 88725498 88731068 - 100133190 AC025268;AK128041;AL136982;AL157440;BC017676;XR_110430;XR_111094;XR_171863 Hs.714477;Hs.739872 1681195;1731939;1778252;2184780;5015961 D10S608;D15S1477;RH44865;RH68273;RH93785 ncrna HGNC:45127 737582 ADK adenosine kinase This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 10 10 10 q22 69196280 69755359 + 75910943 76469061 + 74151185 74709303 + 1300259;1580863;1300048;2313341;2313360;6480464;6482670;6482662;6482663;6482668;6482666;6482652;6482655;6482302;6482667;6482664;6482646;6482650;6482657;6907045;8699517;7240710;8554872 11123368;11160636;11423084;11997462;12729803;16685255;16827901;17457365;21427729;21635241;21964979;22521820;8207212;9435554;9731623;9932716 10215863;11242543;12112843;12477932;12820662;15489334;16344560;16385451;16712791;18309031;185014;18600536;18600545;19635462;19913121;20379614;20392501;20698827;20881134;21139048;21906983;21931568;21988832;22092111;23704328;24128682;24816145;8577746;8917457;9070863;9843365 132 P55263 ABBA01020278;ABBA01020279;ABBA01020280;ABBA01020281;ABBA01020282;ABBA01020283;ABBA01020284;ABBA01020285;ABBA01020286;ABBA01020287;ABBA01020288;ABBA01020289;ABBA01020290;ABBA01020291;ABBA01020292;ABBA01020293;ABBA01020294;ABBA01020295;AC012046;AC022026;AC022540;AC091699;AF283990;AI188809;AI608983;AK290633;AK301590;AK302706;AL357037;AL731576;AMYH02023345;AMYH02023346;AMYH02023347;AMYH02023348;AMYH02023349;AMYH02023350;AMYH02023351;AMYH02023352;AMYH02023353;AMYH02023354;AMYH02023355;BC003568;BJ989861;BM472149;BT006788;CB133126;CH471083;DA356691;KF455259;NG_030484;NM_001123;NM_001202449;NM_001202450;NM_006721;U33936;U50196;U90338;U90339;XM_005269538 AAA97893;AAB01689;AAB50234;AAB50235;AAG13958;AAH03568;AAP35434;ABM92241;ABW03284;BAF83322;BAH13519;BAH13786;EAW54555;EAW54556;NP_001114;NP_001189378;NP_001189379;NP_006712;P55263;XP_005269595 Hs.656586 1341235;1649914;1650704;1661302;1671654;1674184;1763887;1767403;1773045;1781942;1854003;2115287;2141761;2156830;2163449;2169167;2174225;2174227;5093826;7186760 A001U01;A009X23;D10S2150;D10S2218;D10S535;G19645;G32946;IB2229;RH1569;RH46197;RH66362;RH70656;SHGC-132142;SHGC-147556;SHGC-32599;SHGC-34979;STS-AA010164;STS-U50196;WI-11741 AK OTTHUMP00000019864;OTTHUMP00000019865;adenosine 5'-phosphotransferase APPROVED protein-coding ENSG00000156110 HGNC:257 00039 102750;614300 REVIEWED 7205113 ADIPOR1P1 adiponectin receptor 1 pseudogene 1 10 10 10 p12.31 22141241 22142089 + 22453505 22454353 + 22164576 22165424 + 645220 ABBA01034483;AL157831;AMYH02022428;NG_022165 pseudo HGNC:44910 INFERRED 1351472 ADIPOQ adiponectin, C1Q and collagen domain containing This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010] 3 3 3 q27 184996682 185012474 + 186560463 186576252 + 186842674 186858463 + 1599133;1599139;1599144;1599145;1599146;1599149;1599150;1642458;1642395;2313239;2313230;2313236;2313234;2313238;2313235;5686359;5686385;5686388;5686726;5686807;5686812;5686800;5686674;5686351;5686380;5686719;5686822;5686857;5686818;5686660;5686837;5686406;5686819;5686853;5686880;5686887;5685385;5686407;5686408;5686428;5686889;5686895;5686827;5686409;5686754;5686813;5686750;5686885;5686894;5686355;5686424;5686752;5686881;5686891;5686893;5686716;5686833;5686751;5686830;5686856;5686820;5686806;5686814;5686835;5686838;5686381;5686851;5685373;5686377;5686379;5686405;5686802;5686804;5686821;5686825;5686809;5686810;5686883;5686898;5686841;6480464;6907045;8695946;8694456;8694473;8694416;8694422;8694469;7394795;8694415;8694433;8695938;8695927;8695940;8694417;8695941;8694464;8694410;8694447;8694412;8695929;8547563;8695950;8694418;8694443;8694475;8694468;8695951;8694425;8694470;8695928;8695935;2289282;8695947;8695949;8554872;8694413;8694466;8694463;8695930;8695925;8695926;8694430;8695931;8694455 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9370 A8K660;B2R773;Q15848 AB012165;ABBA01058379;ABBA01058380;AC072018;AC112907;AJ131459;AJ131460;AJ131461;AJ131462;AJ131463;AK291525;AK312868;AL832470;AMYH02008352;AX767959;BC054496;BC096308;BC096309;BC096310;BC096311;CH471052;D45371;EU420013;GM710009;HC474937;NG_021140;NM_001177800;NM_004797 AAH54496;AAH96308;AAH96309;AAH96310;AAH96311;ABZ10942;BAA08227;BAA86716;BAF84214;BAG35720;CAB52413;CAE01099;CAT82843;CBL63519;EAW78165;NP_001171271;NP_004788;Q15848 Hs.80485 1770624;2149043;5016478;5016596;5020881;5020946;5037552 D8S2279;G29832;GDB:313513;GDB:434012;GDB:631802;L17709;L17971 ACDC;ACRP30;ADIPQTL1;ADPN;APM-1;APM1;GBP28 30 kDa adipocyte complement-related protein;OTTHUMP00000210047;OTTHUMP00000210048;adipocyte complement-related 30 kDa protein;adiponectin;adipose most abundant gene transcript 1 protein;adipose specific collagen-like factor;gelatin-binding protein 28 1643508;2289633 BW262_H;BW506_H APPROVED protein-coding ENSG00000181092 HGNC:13633 05671 605441;612556 REVIEWED 1348184 ADIRF adipogenesis regulatory factor APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. [provided by RefSeq, Jul 2008] 10 10 10 q23.2 82731188 82733667 + 88728188 88730666 + 86968431 86970909 + 737633;6480464 12477932 15489334;15851553;16341674;19056867;19204726;19444912;21900206;21906983;23239344;23467766;8619847 10974 Q15847;Q5TBU2;Q5TBU5 ABBA01033689;AI401530;AK312031;AL136982;AMYH02023488;BC004471;BM789611;BM850559;CD722742;CH471142;D45370;NM_006829 AAH04471;BAA08226;BAG34968;EAW80313;NP_006820;Q15847 Hs.642660;Hs.714477 1681195;1731939;1778252;2184780 D10S608;RH44865;RH68273;RH93785 AFRO;APM2;C10orf116;RP11-96C23.4;apM-2 OTTHUMP00000020019;adipogenesis factor rich in obesity;adipose most abundant gene transcript 2 protein;adipose specific 2;adipose-specific protein 2 APPROVED protein-coding ENSG00000148671 HGNC:24043 16575 VALIDATED 1317349 ADIPOR2 adiponectin receptor 2 The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008] 12 12 12 p13.31 3408168 3505568 + 1800147 1897845 + 1690981 1788679 + 1331376;1625763;1625764;1625765;1642395;2312480;2312486;2312478;2312488;2312495;2312476;2312490;6480464;8694417;8695941;8695947 12802337;16326833;16415076;16483885;16823476;17884446;18075289;18222103;18363889;18548168;19220660;19631916;19723917;23533720;24028144 12477932;14651988;14702039;15105989;15331527;15454091;15489334;15757860;15918014;15983228;16044242;16139921;16205883;16505255;16601138;16609881;16622416;16678125;16700915;16724230;16899222;16955209;17001470;17006986;17054465;17118803;17123704;17207965;17209173;17216283;17416799;17426101;17459059;17697862;17716299;18294218;18310295;18466348;18660489;18713296;18719649;18842004;18923878;18931038;18988888;18996102;18996753;19037660;19051043;19120283;19208777;19453261;19487733;19502591;19549705;19662435;19671624;19887569;19909601;19913121;20032495;20120899;20125105;20178558;20308432;20336470;20379614;20423458;20470935;20602615;20628086;20682687;20712903;20875820;21273992;21284833;21331343;21351255;21538348;21632074;21943112;21960694;21963094;21980131;22082804;22187345;22227293;22265003;22379998;22479352;22534793;22633650;22819899;22907586;23255609;23355630;23358721;23376713;23386639;23656997;23779096;23922494;23971629;24250222;8889548 79602 Q86V24 ABBA01048817;ABBA01048818;ABBA01048819;AC005183;AC005343;AK025085;AK127196;AK128511;AMYH02025876;AMYH02025877;AY424280;BC004906;BC051858;BM973815;CH471116;HD061932;NM_024551;XM_005253789;XM_006719018 AAH51858;AAR08368;ADQ33094;BAB15062;BAC86881;BAC87473;CBS99527;EAW88924;NP_078827;Q86V24;XP_005253846;XP_006719081 Hs.371642 1341039;1665574;1665576;1693858;1707672;1709784;1709926;1709994;2156405;5492094 A006B15;Adipor2;D12S1656;G20673;G42618;RH66215;SHGC-82005;SHGC-82266;SHGC-84708;SHGC-84820 ACDCR2;FLJ21432;MGC4640;PAQR2 OTTHUMP00000160634;adiponectin receptor protein 2;progestin and adipoQ receptor family member II APPROVED protein-coding ENSG00000006831 HGNC:24041 06403 607946 VALIDATED 1348112 ADM2 adrenomedullin 2 This gene encodes a protein which is a member of the calcitonin-related hormones. The encoded protein is involved in maintaining homeostasis in many tissues, acting via CRLR/RAMP receptor (calcitonin receptor-like receptor/receptor activity-modifying protein) complexes. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 22 22 22 q13.33 34796024 34800900 + 50919985 50924866 + 50481556 50486437 + 1303968;6480464 14706825 10591208;12036966;12477932;14615490;14615790;14702039;15461802;16359754;17008878;17346853;17965749;18240029;18460550;18577758;18829738;19255504;19535789;19592612;19684198;19910445;20596793;21658025;21671901;21816853;21816966;21832999;21839130;22009752;22922959;23337723;23499766;8125298 79924 Q6IC89;Q7Z4H4 AB121034;AB236970;ABBA01042630;AF529213;AK024788;AK090635;AK092640;AK225097;AL096767;AMYH02038614;BC012864;BM910446;BX400262;CH471138;CR456479;NM_001253845;NM_024866 AAI41535;AAI46570;AAQ09100;BAB15004;BAD07411;BAE46395;CAG30365;CAK54460;CAK54759;EAW73541;NP_001240774;NP_079142;Q7Z4H4 Hs.449099;Hs.743540 5015861;5020948;5091792;7185938 D10S16;G35510;RH48341 AM2;FLJ21135;dJ579N16.4 OTTHUMP00000196595;OTTHUMP00000196596;intermedin APPROVED protein-coding ENSG00000128165 HGNC:28898 10563 608682 VALIDATED 9068737 ADNP-AS1 ADNP antisense RNA 1 ASSOCIATED WITH Congenital disorder of glycosylation type 1E (inferred) 20 20 49547576 49561671 + 50930984 50945134 + 8554872 101927631 ABBA01052791;ABBA01052792;AI827739;AL034553;AMYH02037248;AMYH02037249;AMYH02037250;BF064247;BX105402;HG511436;HY015168;LK937946;NR_110007;NR_110008;NR_110009 Hs.301898 ncrna ENSG00000259456 HGNC:51227 VALIDATED 730917 ADM adrenomedullin The protein encoded by this gene is a preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 2014] 11 11 11 p15.4 10448490 10450771 + 10326642 10328923 + 10305095 10307376 + 1625294;1625307;1625319;1625297;1625316;704370;1625296;1625299;1625300;1625301;1625302;1625303;1625304;1625305;1625310;1625312;1625318;1625333;1625298;1625317;1580863;2313312;2313313;2313311;2325317;2325318;2325319;1642599;2325637;2325320;6480464;6484113;7364948;7364990;7364987;7364952;7364986;7364958;5508764;7364988 11331218;12623952;14718403;15086360;15284680;15350700;15789277;15973109;16450076;16524566;16625237;16713642;16715121;16728681;16735801;16793965;16841081;16955796;17043245;17255858;17263982;17318497;17335899;17355819;17363587;17557032;17766482;18403050;18945953;19009024;19212187;19216096;19424162;20132852;20431304;20538296;21695352 10225288;10588445;10822232;10855685;10867102;10882736;10899511;10956553;11116141;11150646;11387328;11410113;11463574;11463752;11502838;11511315;11562782;11571480;11712085;11744163;11774814;11879669;11905404;11921362;11921363;11956648;11972292;12036966;12137974;12189226;12193565;12220731;12324915;12375542;12376296;12379507;12383875;12477932;12484513;12529288;12534591;12565880;12566732;12579522;12601625;12630817;12630823;12630824;12643861;12646214;12660258;12667630;12684703;12687457;12716843;12720100;12753312;12763641;12782295;12805025;12835224;12853384;12903912;12907107;12920627;12969589;14517225;14534081;14612905;14671210;14714580;14715486;14720432;14725946;14759562;15016771;15044509;15192039;15194870;15242974;15300632;15336545;15361766;15489334;15527794;15531734;15544858;15613468;15665526;15677761;15684700;15702240;15711093;15758554;15761041;15788445;15866060;15902095;15908101;15917349;15974887;15976103;16097366;16115629;16154664;16221100;16256216;16270874;16322067;16356592;16416151;16517613;16596251;16609682;16622024;16797107;16815566;16821090;16854513;16963041;16964401;17022943;17053041;17290391;17307261;17327422;17384335;17388661;17584073;17719138;17766467;17922433;17941085;17952853;18000597;18080871;18081029;18240029;18371176;18401334;18463805;18615773;18657357;18692535;18705285;18708640;18929609;19010904;19126117;19166930;19210874;19212702;19247278;19253104;19306911;19323987;19346663;19564455;19610056;19616043;19623513;19627536;19636336;19706311;19738161;19823891;19847298;19913121;19932100;20016189;20151808;20216319;20467777;20534761;20628086;20686565;20691218;20713499;20798523;20854881;20942979;20954838;21050876;21075100;21094578;21350119;21408188;21458987;21558311;21558971;21721459;21725669;21791966;21798961;21830197;21839130;21889828;21909110;21909115;21957602;21994414;22070520;22087514;22102369;22178239;22400488;22406979;22456622;22608560;22628306;22801438;22818355;22859951;22880472;22881718;22885414;22932875;22960655;22971508;23002189;23017815;23088295;23199555;23258247;23269582;23356193;23381795;23445133;23450059;23478664;23562132;23583388;23634287;23638647;23653390;23663996;23688561;23711352;23722054;23793138;23880804;23894342;23936408;23954711;23969937;23984422;24037526;24060192;24100627;24147025;24169318;24457964;24519534;24623968;7688224;7745031;8074714;8076689;8137955;8387282;8524787;8687431;8742029;8774254;8885746;9145435;9357065;9535752;9578982;9620797;9768331;9916958 133 E9PL83;E9PML4;E9PQE6;E9PQT2;P35318 ABBA01061160;AC080023;AK312893;AMYH02024327;BC015961;BQ021632;BT006902;CH471064;CR541995;D14874;D43639;DQ143945;HI574294;HY105655;NM_001124;S73906 AAC60642;AAH15961;AAP35548;AAZ38717;BAA03589;BAA07756;BAG35740;CAG46792;CBX47636;EAW68571;EAW68572;NP_001115;P35318 Hs.441047 1773331;2153877;5020958 ADM-1;RH17382;WI-9301 AM;PAMP OTTHUMP00000231484;OTTHUMP00000231488;OTTHUMP00000231489;OTTHUMP00000231490;preproadrenomedullin;proadrenomedullin N-20 terminal peptide APPROVED protein-coding HGNC:259 00061 103275 REVIEWED 1605090 ADNP2 ADNP homeobox 2 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN cellular response to oxidative stress (ortholog); cellular response to retinoic acid (ortholog); negative regulation of cell death (ortholog); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; 2-methylcholine; all-trans-retinoic acid 18 18 18 q23 74639542 74670861 + 77866915 77898229 + 80109031 80140346 + 6480464 10048485;12477932;14702039;15489334;18029348;19322201;20598862;20936779;21139048;21888893;21906983;23000965 22850 H0YLN6;H0YM09;K7EPG1;K7ERT3;Q6IQ32 AB020670;ABBA01013903;ABBA01013904;AC090360;AC139100;AK022688;AK023032;AK292566;AMYH02035070;BC071589;CH471117;KC877689;NM_014913;XM_005266656 AAH71589;ABZ92222;BAA74886;BAB14180;BAF85255;EAW66646;EAW66647;NP_055728;Q6IQ32;XP_005266713 Hs.131915 1739239;2125318 D17S1639;RH65773 KIAA0863;ZNF508 ADNP homeobox protein 2;zinc finger protein 508 protein-coding ENSG00000101544 HGNC:23803 13822 VALIDATED 3499499 ADM5 adrenomedullin 5 (putative) FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; methyl methanesulfonate 19 19 19 q13.33 47061274 47063579 + 50191942 50194247 + 49688685 49690990 + 6480464 12477932;18434369;24250222 199800 C9JUS6 ABBA01032913;AC011495;AI937838;AL359598;AMYH02036326;BC022233;BC032764;BC112359;CH471177;NM_001101340 ACE86851;ACE87538;C9JUS6;EAW52522;NP_001094810 Hs.311193;Hs.607562 1676982;1685514;2118737;2119391;5493459 RH68301;RH91103;RH91411;STS-N90422;UniSTS:486532 AM5;C19orf76 adrenomedullin 5 homolog (pig);putative adrenomedullin-5-like protein APPROVED protein-coding HGNC:27293 VALIDATED 737453 ADNP activity-dependent neuroprotector homeobox Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 46211143 46251787 - 49505585 49547527 - 50888918 50930990 - 1580863;2312784;2312792;2312791;2312794;2312793;2312783;1358226;2312775;6480464;8699517 10037502;11123362;11935065;15886480;16938277;17720885;18199809;18414890 11013255;11780052;12477932;15489334;17081983;17345061;17474147;17878164;18029348;19471022;19923857;20562864;20598862;21139048;21150319;21252943;21647709;21888893;21890473;21900206;21988832;22554909;22586326;22939629;23752268;24457600;24531329;24816145;25027693;9872452 23394 E9PQK8;Q9H2P0 AB018327;ABBA01052790;AF250860;AK074926;AK314734;AL034553;AL080163;AMYH02037246;AMYH02037247;AW452644;AX081465;BC015554;BC075794;BC090933;BM998017;CH471077;DR006081;DR006382;NG_034200;NM_001282531;NM_001282532;NM_015339;NM_181442;XM_006723759 AAG47651;AAH75794;AAH90933;BAA34504;BAG37275;CAB45752;CAC33127;EAW75611;EAW75612;NP_001269460;NP_001269461;NP_056154;NP_852107;Q9H2P0;XP_006723822 Hs.293736;Hs.570355 1663998;1735976;1738987;1767687;1774387;1775806;2124184;2142306;2144855;2155591;2158896;2162067;2169094;2218190 ADNP__4259;D1S1984E;D20S560E;D20S689;D20S772;D20S953;RH11804;RH18366;RH68738;RH69297;SHGC-36586;SHGC-52475;SHGC-57240;Z94544 ADNP1;KIAA0784;MRD28 ADNP homeobox 1;OTTHUMP00000031275;OTTHUMP00000031276;OTTHUMP00000165329;OTTHUMP00000229415;activity-dependent neuroprotective protein;activity-dependent neuroprotector homeobox protein APPROVED protein-coding ENSG00000101126 HGNC:15766 09793 611386;615873 REVIEWED 730817 ADORA1 adenosine A1 receptor The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 176226082 176265774 + 203096833 203136533 + 203127705 203167405 + 1625225;1625243;1331525;1625367;1580863;1625229;1625369;1625366;1300260;2313803;2313805;2313804;2313807;2313808;4890386;5129094;5129099;5129095;5129093;5129103;5129097;5129098;4890369;4145444;5129096;5129100;6480464 11504952;11593763;11703426;15118671;15220221;15257174;15630442;16256246;16507638;17067559;17211253;17853654;17959644;18289533;18307414;18787037;19276628;19552053;20065990;20400685;20729330;21388992;2167912;8998253 10455026;10487528;10502296;10521440;10890919;11278325;11369591;11390975;11934694;12150791;12475223;12477932;12764156;12773115;12812995;12825092;12826838;12920396;12974671;1339301;14702039;14997566;1530647;15485865;15489334;1551861;16118787;16344560;16481441;1662665;16709961;16713569;17088462;17542617;17728764;17901362;18052973;18240029;18281812;18373090;18500760;18577758;18680557;18996102;19019012;19019667;19047957;19193874;19207864;19536175;19558453;19574994;19794965;19820430;19822392;19883624;19913121;19919976;20085598;20105183;20354569;20392501;20468064;20599769;20602615;20609566;20628086;21506953;21542986;21590734;21603615;21701065;21730968;21988832;22215671;22356216;22370739;22449383;22462821;22787201;22867902;23193172;23657626;23682121;23813214;2541503;2825071;7601478;7818494;8300646;8360491;8450977;8889548;9166747;9247966 134 B7Z1L9;B7Z379;P30542 AB004662;ABBA01027484;ABBA01027485;AC105940;AK095060;AK127752;AK289928;AK293647;AK295584;AK308733;AK316106;AMYH02002511;AY136746;BC026340;BT019854;BU740906;CH471067;CR541749;DA343445;DB171678;EF057066;GM047589;KC884744;L22214;NM_000674;NM_001048230;S45235;S56143;X68485;XM_005244899;XM_005244901;XM_005244902 AAA17544;AAB23388;AAB25533;AAH26340;AAN01272;AAV38657;ABM83304;ABM83305;ABM84210;ABM86518;ABM87615;ABO25743;AGS10022;BAA20433;BAF82617;BAG54566;BAH11555;BAH12115;BAH14477;CAA48503;CAG46549;CAV33768;EAW91465;NP_000665;NP_001041695;P30542;XP_005244956;XP_005244958;XP_005244959 Hs.77867 1744371;1775157;2168598 D1S1699;GDB:452605;SHGC-76157 RDC7 OTTHUMP00000039090;OTTHUMP00000039091;adenosine A1 receptor variant 1;adenosine receptor A1 APPROVED protein-coding ENSG00000163485 HGNC:262 00042 102775 REVIEWED 730999 ADORA2A adenosine A2a receptor This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013] 22 22 22 q11.23 8623253 8638061 + 24819565 24838328 + 24423597 24442360 + 1331525;1625367;1580863;1300262;1300261;2313805;4890366;4890380;4890362;4890358;4890361;4890364;4890386;4890367;4890370;4890383;4890376;4890378;4890363;4890385;6480464;6484113 11780065;15118671;15257174;16256246;16339780;16484904;17293374;17559837;17601796;17617618;17937935;18310516;18703794;19487932;19766783;19909990;20798237;9262401 10051547;10326835;10391209;10899090;10945659;10951119;10974209;11125033;11140838;11515749;11532976;11571652;11717194;11734617;11934694;12036966;12080047;12189203;12237741;12406340;12429726;12477932;12634474;12784121;12804599;12825092;12837758;12856413;12933819;1331670;1426003;14525968;14666117;14702039;14715520;15146197;15351206;15461468;15461802;15489334;15539641;15704067;15719154;15734651;15774265;15987888;16022683;16027149;16118787;16184606;16280366;16339847;16344560;16361356;16481441;1662665;16805430;16818375;16824773;16917093;16939974;16969271;17132707;17257240;17329997;17474152;17512749;17558310;17591446;17599669;17616786;17872970;18057956;18197085;18215030;18218631;18240029;18246094;18305461;18331682;1835521;18434504;18442791;18486613;18508500;18524886;18539621;18541693;18629431;18675812;18759349;18772204;18832607;18996102;19013155;19019012;19019667;19086053;19156168;19159073;19262506;19287996;19303140;19386617;19508402;19525944;19538256;19541651;19565319;19591938;19632986;19776336;19794965;19801629;19883624;19902562;19913121;19948975;20021407;20029460;20045081;20085598;20089670;20197060;20334879;20354569;20371613;20386734;20392501;20396431;20413899;20468064;20512606;20520601;20628086;20666933;20691427;20799992;20842321;20926384;21040702;21062422;21062644;21088442;21256133;21258856;21281405;21335481;21393508;21480628;21486776;21501622;21542986;21550361;21590734;21593763;21606452;21633321;21638125;21646447;21658325;21739164;21840298;21885291;21950736;21966389;22012471;22033526;22079667;22119961;22130015;22146575;22170367;22213163;22217884;22238572;22240468;22249219;22333316;22336631;22356216;22367999;22403020;22462821;22585593;22705363;22740769;22754043;22792196;22798613;22844517;22923002;22940476;22963436;23005256;23071116;23093781;23168167;23171222;23193172;23241554;23332182;23377438;23385980;23429888;23454349;23478188;23483627;23489072;23500543;23514445;23535492;23535933;23583199;23593569;23594931;23657626;23663495;23678995;23679925;23682121;23685887;23695433;23749290;23789814;23856527;23965991;24509856;24652540;24722188;2541503;7775460;7818494;8020991;8088373;8135838;8360491;8522976;8670304;8794889;9369973 135 A8K1F6;B3KVQ4;C9J0Z4;C9J3T2;C9JFS2;C9JQD8;P29274;S4R2Z8;S4R3A7;S4R429;X5DNB4 ABBA01055137;AK123058;AK289871;AK301420;AK312946;AMYH02038142;AP000355;AY136747;BC013780;BG686029;BT006999;CA307692;CH471095;CN408252;CR456367;DA270141;DA687739;DA781734;DA942067;DA983859;EU036687;EU036688;EU036689;EU036690;EU036691;EU036692;EU036693;EU036694;HI574256;HY102778;HY249059;KJ534761;M97370;NM_000675;NM_001278497;NM_001278498;NM_001278499;NM_001278500;NR_103543;NR_103544;U40771 AAA58356;AAA83270;AAH13780;AAN01273;AAP35645;ABS89237;ABS89238;ABS89239;ABS89240;ABS89241;ABS89242;ABS89243;ABS89244;AHW56401;BAF82560;BAG35787;BAG53866;BAG62949;CAG30253;CAK54365;CAK54664;CBX47617;EAW59658;NP_000666;NP_001265426;NP_001265427;NP_001265428;NP_001265429;P29274 Hs.197029 2106949;2114034;2140335;2140775;2158034 ADORA2A;ADORA2A_7742;D22S1263;G27964;WI-18996 A2aR;ADORA2;RDC8;hA2aR OTTHUMP00000198454;OTTHUMP00000198455;adenosine A2 receptor;adenosine receptor A2a;adenosine receptor subtype A2a APPROVED protein-coding ENSG00000128271;ENSG00000258555 HGNC:263 00043 102776 REVIEWED 1317890 ADO 2-aminoethanethiol (cysteamine) dioxygenase Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM, Mar 2008] 10 10 10 q21.3 57831785 57835508 + 64564516 64568239 + 62804756 62808479 + 6480464;6907045 12477932;14702039;15489334;17581819;20877624;21890473;22327514;22412388;22747683;23042114 84890 B3KXN9;Q96SZ5 ABBA01019491;AK027453;AK127694;AL049319;AL133417;AMYH02023195;BC018660;BC028589;BC067740;CH471083;NM_032804 AAH18660;AAH28589;AAH67740;BAB55123;BAG54551;EAW54235;EAW54236;EAW54237;NP_116193;Q96SZ5 Hs.99821 1646369;2117028;2175548 RH1566;SGC32008;SHGC-32854 C10orf22;DKFZp564C046;FLJ14547 2-aminoethanethiol dioxygenase;OTTHUMP00000019674;cysteamine (2-aminoethanethiol) dioxygenase (ADO);cysteamine dioxygenase APPROVED protein-coding ENSG00000181915 HGNC:23506 12566 611392 VALIDATED 1353628 ADPGK ADP-dependent glucokinase ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008] 15 15 15 q24.1 49922511 49954930 - 73043708 73076126 - 72751367 72783785 - 737633;6480464;6907045 12477932 11230166;14702039;14975750;15489334;16169070;16303743;16344560;16713569;19309449;19903754;19946888;20379614;21963094;22219026;22939629;23263486;23799003;24654937 83440 H3BN66;H3BRS6;H3BTH4;H3BU35;H3BUC3;Q9BRR6 ABBA01038721;AC009712;AF204270;AK055526;AK075560;AK293282;AK294391;AL136873;AL832254;AMYH02030765;BC006112;BC018074;BC044589;BE018185;CH471082;CR533447;CS051413;DA031990;DA208247;DB279245;NM_031284;NR_023318;NR_023319;XM_006720712;XM_006720713;XM_006720714;XM_006720715 AAH06112;AAH18074;AAL31473;ACE86460;ACE87141;BAB70941;BAC11699;BAG56809;BAG57646;CAB66807;CAG38478;CAH10598;CAI72201;EAW77914;EAW77915;EAW77916;EAW77917;EAW77918;EAW77919;EAW77920;EAW77921;NP_112574;Q9BRR6;XP_006720775;XP_006720776;XP_006720777;XP_006720778 Hs.654636 1754349;1855412;2174871;2174873;2185439;5022578;5037552 A005M18;D15S838;D1S1423;D8S2279;G20332;SHGC-132374;SHGC-24194 2610017G09Rik;ADP-GK;DKFZp434B195;rbBP-35 ATP-dependent glucokinase APPROVED protein-coding ENSG00000159322 HGNC:25250 12429 611861 VALIDATED 3129815 ADORA2A-AS1 ADORA2A antisense RNA 1 22 22 22 q11.23 8624901 8690519 - 24825178 24890783 - 24429210 24494815 - 12477932;14702039;16344560;19726446 646023 P86434 ABBA01055137;ABBA01055138;AK091970;AMYH02038142;AMYH02038143;AP000355;BC045098;CH471095;DA917327;DB449907;HG512086;HG512087;HG512088;KF457378;NR_028483;NR_028484 EAW59659;P86434 Hs.632761 1335844;1657586;2106949;2114034;2140335;2140775;2152485;2158034 ADORA2A;ADORA2A_7742;D22S1263;D22S156;D22S621;G18161;G27964;WI-18996 C22orf45;FLJ34651 APPROVED ncrna ENSG00000178803 HGNC:37122 VALIDATED 1344356 ADORA2BP1 adenosine A2b receptor pseudogene 1 1 1 1 q32 183148612 183149913 + 209917720 209919021 + 209744375 209745676 + 7558011 137 ABBA01048215;AL022398;AMYH02002600;NG_000843 ADORA2BP APPROVED pseudo HGNC:265 INFERRED 6769553 ADPGK-AS1 ADPGK antisense RNA 1 15 15 15 q24.1 49953980 49969343 + 73075176 73090540 + 72782835 72798199 + 23263486 100287559 ABBA01038721;AC009712;AK127877;AMYH02030765;HG507217;KF456095;NR_040107 Hs.562587 RP11-361M10.5 APPROVED ncrna ENSG00000260898 HGNC:44144 VALIDATED 731019 ADORA2B adenosine A2b receptor This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p12 15751524 15782216 + 15848231 15879210 + 15944917 15975896 + 1580863;6480464 10101031;11048721;11125033;11579381;11906291;12036966;12080047;12477932;12600879;12939345;1325798;15187156;15489334;1551861;15550390;15637124;15769552;16103269;16631311;16707627;16778150;17077301;17301835;17428235;17565009;18004767;18056839;18215420;18240029;18351132;18367727;18703227;18996102;19019667;19086053;19794965;19841638;19883624;19913121;19948975;20008542;20011598;20029460;20237496;20388705;20619442;20628086;20926384;21030693;21109603;21242513;21335481;21480628;21506953;21590734;21620804;21622827;21730968;21966389;21988832;22119961;22217884;22504483;22610502;22679008;22767505;22848385;22867902;22963436;23045479;23286920;23483055;23584256;23638125;23682121;23855769;24136993;24391213;24652540;7558011;7790006;7836474;8022409;9914161 136 P29275;Q2L7J7 ABBA01035665;AC006251;AMYH02033061;AMYH02033062;AY136748;BC025722;CH471222;DQ351340;M97759;NM_000676;X68487 AAA51598;AAH25722;AAN01274;ABC74564;ABM82640;ABM85817;CAA48505;EAX04484;EAX04485;NP_000667;P29275 Hs.167046 1655855;1706620;1745029;2114098;2183891 ADORA2B;D17S1679;GDB:593101;SHGC-82711;STS-X68487 ADORA2 OTTHUMP00000065212;adenosine receptor A2b APPROVED protein-coding ENSG00000170425 HGNC:264 15971 600446 REVIEWED 735600 ADORA3 adenosine A3 receptor This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 110272892 110353227 - 112025970 112106602 - 111483348 111563977 - 1580863;1300263;6480464;8554872 10699369 11111832;11214319;11891221;12152652;12406340;12435805;12477932;12600879;12695530;12975309;14688204;14978250;15147729;15240539;15324660;15355922;15489334;15849244;16242072;16282197;16710414;16849509;17170310;17216675;17348028;17728764;18051367;18240029;18351132;18577758;18636149;18653544;18996102;19019667;19086053;19095736;19426966;19794965;19883624;19913121;20190146;20237496;20379614;20602615;20628086;20716228;20732875;21542986;21675873;21715680;21830157;21841534;22146575;22217884;22378888;22682496;22906537;23027555;23251661;23383108;23817552;23856527;24161786;2834384;7607699;8234299;8399349;8617363;8889548;9164961;9293494;9380026;9618527;9837869 140 H0Y6K0;H0Y7W7;P33765;Q5QNY8;Q6P2N6 ABBA01068397;ABBA01068398;AK313095;AL390195;AL391063;AMYH02001727;AY011231;AY136749;AY358644;BC029831;BC041707;BC064411;BM675096;CH471122;DB447202;GM047590;L20463;L22607;L77729;L77730;NG_032119;NM_000677;NM_001081976;NM_020683;S81868;X76981;XM_005270485;XM_005270486;XM_005270489;XM_005270490 AAA16365;AAA35949;AAB02790;AAD14378;AAG35155;AAH29831;AAH41707;AAH64411;AAN01275;AAQ89007;ABM83375;ABM86587;BAG35919;CAA54288;CAV33769;EAW56502;NP_000668;NP_001075445;NP_065734;P33765;Q6P2N6;XP_005270542;XP_005270543;XP_005270546;XP_005270547 Hs.281342 1651846;1745729;1795324;2140097;2190803 ADORA3;ADORA3_1557;GDB:632846;RH69986;SHGC-12531 A3AR;AD026;RP11-552M11.7;bA552M11.5 OTTHUMP00000013476;OTTHUMP00000013479;OTTHUMP00000013739;OTTHUMP00000082917;adenosine receptor A3 APPROVED protein-coding ENSG00000121933 HGNC:268 08984;12424 600445 REVIEWED 732427 ADPRH ADP-ribosylarginine hydrolase The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014] 3 3 3 q13.31-q13.33 117707084 117717352 + 119298280 119308792 + 119579676 119589945 + 1580863;6480464 12070318;12477932;15489334;15546898;17207965;19407395;21044950;23602568;8349667;9193669 141 C9JZW7;P54922 ABBA01061581;ABBA01061582;AC073352;AK291787;AK304560;AK313369;AMYH02007502;BC020574;BC063883;BC074769;CH471052;L13291;NM_001125;NM_001291949;NM_001291950 AAA35555;AAH63883;AAH74769;ADQ31983;BAF84476;BAG36168;BAG65353;EAW79561;EAW79562;EAW79563;NP_001116;NP_001278878;NP_001278879;P54922 Hs.99884 1649583;2107817;2186587 ADPRH_8162;RH12819;STS-L13291 ARH1 ADP-ribose-L-arginine cleaving enzyme;OTTHUMP00000215216;OTTHUMP00000215217;OTTHUMP00000215218;OTTHUMP00000215219;[Protein ADP-ribosylarginine] hydrolase APPROVED protein-coding ENSG00000144843 HGNC:269 04359 603081 REVIEWED 1313790 ADPRHL1 ADP-ribosylhydrolase like 1 ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008] 13 13 13 q34 94904802 94935830 - 114076260 114107839 - 113421940 113453631 - 6480464 12070318;12477932;15057823;15489334;17207965 113622 Q8NDY3;X6RL45 AA430157;ABBA01019869;AJ313429;AL160251;AMYH02028744;BC009755;CH471085;NM_138430;NM_199162;XM_006719961 AAH09755;ADQ31850;CAC86114;EAX09208;EAX09209;NP_612439;NP_954631;Q8NDY3;XP_006720024 Hs.98669 1675973 RH94126 ARH2 ADP-ribosyl-hydrolase;ADP-ribosylhydrolase 2;OTTHUMP00000018762;OTTHUMP00000018763;OTTHUMP00000018764;[Protein ADP-ribosylarginine] hydrolase-like protein 1 APPROVED protein-coding ENSG00000153531 HGNC:21303 12431 610620 VALIDATED 1319201 ADPRHL2 ADP-ribosylhydrolase like 2 This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009] 1 1 1 p34.3 34828871 34833951 + 36554453 36559533 + 36088852 36093932 + 6480464 12070318;12477932;14702039;15489334;16169070;16278211;16511307;16710414;17015823;17075046;17991898;18029348;21139048;22433848;24816145;8125298 54936 B7ZAN4;Q9NX46 ABBA01023317;AF212236;AJ313333;AJ427295;AK000453;AK223037;AK295283;AK316349;AL138787;AMYH02000775;AMYH02000776;BC014169;CH471059;CR457237;DC365461;NM_017825 AAH14169;AAK14922;BAA91174;BAD96757;BAG58267;BAH14720;CAC85940;CAD20316;CAG33518;EAX07389;EAX07390;NP_060295;Q9NX46 Hs.18021 1662974;1850692 RH16011;SHGC-74600 ARH3;FLJ20446 ADP-ribosylhydrolase 3;OTTHUMP00000008926;[Protein ADP-ribosylarginine] hydrolase-like protein 2;poly(ADP-ribose) glycohydrolase ARH3;protein ADP-ribosylarginine hydrolase-like protein 2 APPROVED protein-coding ENSG00000116863 HGNC:21304 12432 610624 REVIEWED 736081 ADRA1A adrenoceptor alpha 1A Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008] 8 8 8 p21.2 25568607 25685865 - 26605667 26727003 - 26747938 26869486 - 1559318;1580863;1625780;1625770;1625775;5508374;5688364;6480464;5688366;5688369;5688371;5688368;5688377;5688340;5688352;5688374;8554872 10841349;11454900;114750;12433595;15795180;16371063;16524515;16890732;17054657;19011682;19540213;20886573;20974230;21722710 10334511;10493934;10587338;10671514;10860850;11154706;11425010;12184796;12409310;12477932;12519093;12544508;12707939;12782672;1363873;14626446;15136785;15179408;15297446;15474515;15525470;15626751;15824464;15917235;15946947;16043131;16153395;16536786;16633140;16645408;16685204;16690783;16754659;16823803;17075692;17408692;17556657;17655760;17681068;17972277;17973108;18240029;18257748;18331634;18351393;18413308;18523139;18524654;18821565;18996102;19086053;19095219;19102884;19105822;19322003;19352218;19444285;19476811;19520158;19565482;1970822;19730237;19763272;19874574;19913121;19918262;19919991;20004544;20044737;20129829;20173430;20379614;20628086;20705341;21063774;21223784;21262225;21519279;21571945;21738688;21792097;21982020;22037178;22089237;22091949;22952603;23460120;23717684;23877383;23902938;7737411;7805763;7815325;8024574;8183249;8396931;8564208;8832064;9359081;9490024 148 B0ZBD3;E7EW16;P35348 AB065703;ABBA01005577;ABBA01005578;ABBA01005579;AC015564;AC022839;AC091675;AF013261;AF395806;AK289548;AMYH02017665;AX136026;AX137523;AX646449;AY389505;AY491775;AY491776;AY491777;AY491778;AY491780;AY491781;BC095512;CH471080;D25235;D32201;D32202;EU326301;L31774;NG_029395;NM_000680;NM_033302;NM_033303;NM_033304;S76001;U02569;U03866;U08994;XM_005273414;XM_006716292;XM_006716293 AAA18783;AAA93114;AAB59486;AAB60353;AAC06138;AAD14205;AAH95512;AAK77197;AAQ91331;AAR84644;AAR84645;AAR84646;AAR84647;AAR84649;AAR84650;ACA05899;ACA05901;ACA05903;ACA05905;ACA05907;BAA04960;BAA06900;BAA06901;BAC05926;BAF82237;CAC39680;CAC39900;CAD69352;EAW63569;EAW63570;EAW63571;EAW63572;NP_000671;NP_150645;NP_150646;NP_150647;P35348;XP_005273471;XP_006716355;XP_006716356 Hs.709175 1664924;1665301;1672654;1767533;2131013;5015619;5022200;5022450;5037552 D10S275;D11S3114;D8S2033;D8S2279;L18426;RH45859;SGC35557;SGC35558;WI-17142 ADRA1C;ADRA1L1;ALPHA1AAR G protein coupled receptor;OTTHUMP00000125310;OTTHUMP00000125311;OTTHUMP00000125312;OTTHUMP00000125313;adrenergic receptor, alpha 1a;adrenergic, alpha -1A-, receptor;adrenergic, alpha-1A-, receptor variant 1;adrenergic, alpha-1A-, receptor variant 11;adrenergic, alpha-1A-, receptor variant 3;adrenergic, alpha-1A-, receptor variant 5;adrenergic, alpha-1A-, receptor variant 8;adrenergic, alpha-1C-, receptor;alpha-1A adrenergic receptor;alpha-1A adrenoceptor;alpha-1A adrenoreceptor;alpha-1C adrenergic receptor;alpha-adrenergic receptor 1c APPROVED protein-coding ENSG00000120907 HGNC:277 00081 104221 REVIEWED 1604325 ADPRM ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent ENCODES a protein that exhibits ADP-ribose diphosphatase activity (inferred); CDP-glycerol diphosphatase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH atrazine; copper atom; copper(0) 17 17 17 p13.1 10631781 10645729 + 10600927 10616264 + 10697610 10712947 + 6480464 12477932;16344560;18352857;19460752;21963094;24816145 56985 Q3LIE5;V9GYR6;W0NWJ0 AB073393;ABBA01054979;AC002347;AF168715;AK292629;AMYH02032969;BC001294;BC070155;CH471108;DA280275;DA305828;KC877634;KF880964;NM_020233;XM_005256738;XR_243561;XR_243562 AAF87317;AAH01294;AAH70155;AHG56452;BAE45723;BAF85318;EAW89995;EAW89996;NP_064618;Q3LIE5;XP_005256795 Hs.47668;Hs.708369 1677766;1677816 RH94236;RH98491 C17orf48;MDS006;NBLA03831 ADP-ribose/CDP-alcohol pyrophosphatase;ADPRibase-Mn;CDP-choline phosphohydrolase;OTTHUMP00000160900;manganese-dependent ADP-ribose/CDP-alcohol diphosphatase APPROVED protein-coding HGNC:30925 17473 VALIDATED 734051 ADRA1D adrenoceptor alpha 1D Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008] 20 20 20 p13 4266123 4294513 - 4201278 4229659 - 4220631 4249012 - 1559318;1580863;5508374;6480464 11454900;15795180 10820200;10860850;10969806;11780052;12184796;12409310;12442007;1359975;14626446;14736874;15123239;15297446;15525470;15690361;16533813;1656955;16754659;17384146;17404580;17660397;17681068;17973108;18187928;18240029;18257748;18468998;18628404;19086053;19212140;19322201;19458937;19913121;20628086;21063774;21115837;22889411;23205498;23551011;23877383;7746284;7815325;8024574;8039425;8125015;8183249 146 B0ZBE0;P25100 ABBA01053850;ABBA01053851;ABBA01053852;AL121675;AL357040;AMYH02036621;CH471133;D29952;EU326302;L31772;NM_000678;S70782;U03864 AAB31163;AAB59487;AAB60351;ACA05908;BAA06222;EAX10455;NP_000669;P25100 Hs.557 1654387;2124266;7187388 RH64141;STS-M76446 ADRA1;ADRA1A;ADRA1R;ALPHA1;DAR;dJ779E11.2 OTTHUMP00000030160;adrenergic, alpha -1D-, receptor;adrenergic, alpha-1A-, receptor;adrenergic, alpha-1D-, receptor;alpha-1A adrenergic receptor;alpha-1D adrenergic receptor;alpha-1D adrenoceptor;alpha-1D adrenoreceptor;alpha-1D-adrenergic receptor;alpha-adrenergic receptor 1a APPROVED protein-coding ENSG00000171873 HGNC:280 00079 104219 REVIEWED 731080 ADRA2B adrenoceptor alpha 2B This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014] 2 2 2 q11.1 91219432 91222707 - 96778623 96782281 - 96112875 96116149 - 1559314;1559315;1559313;1580863;1300265;2313541;2313542;2313545;2313548;2313543;2313544;6480464 10404816;12121839;12535806;14744925;15660746;17039423;17070424;17277585;17516297;18953403 10224112;10647009;11056163;11140838;11154706;11313909;11345359;11753579;12401126;12477932;12519093;12629104;12822042;12917501;12946937;15037199;15166301;15309292;15592690;15719258;15731590;15815621;15864122;15864138;15893292;15900214;15900285;15920038;16247508;16269962;16336817;16531006;16645408;16776624;16907703;17215105;17370102;17410123;17595424;17620957;17625217;17660814;18054844;18240029;18456256;18596718;18854756;18996102;19056576;19352218;19477270;19477404;19593211;19728989;19781422;19815603;19826083;19874574;20044737;20051907;20110158;20401689;20424170;20613626;20651814;20692245;20705341;20739228;21159032;21259387;21357695;2164221;2169434;2172775;2173582;21854681;21878072;21942960;21965191;22025613;22170367;22218095;22404651;22560155;22570080;22701600;22743060;22839581;23105096;23225885;23499426;23583499;24058067;24087960;24114805;24269973;2842764;3012234;9235896;9435676 151 A2RUS0;P18089 AA887330;ABBA01036597;AC092603;AF005900;AF316895;AMYH02004325;AY548167;BC133021;BC136537;BF475329;CH471207;CV806541;DQ057076;EU332847;KF573706;M34041;M38742;NG_032950;NM_000682 AAA51666;AAA62823;AAB62558;AAI33022;AAI36538;AAK01635;AAS55646;AAX93218;AAY43127;ABY87536;EAW71390;NP_000673;P18089 Hs.247686 1685708;2218194;5492567;5493021 ADRA2B__4260;RH80277;UniSTS:481696;UniSTS:483802 ADRA2L1;ADRA2RL1;ADRARL1;ALPHA2BAR;alpha-2BAR ADRA2B adrenergic, alpha-2B-, receptor;G-protein coupled receptor;OTTHUMP00000205577;aadrenergic, alpha-2b-, receptor;adrenergic receptor alpha 2B;adrenergic, alpha-2B-, receptor;alpha-2 adrenergic receptor subtype C2;alpha-2-adrenergic receptor-like 1;alpha-2B adrenergic receptor;alpha-2B adrenoceptor;alpha-2B adrenoreceptor;alpha-2B-adrenergic receptor APPROVED protein-coding ENSG00000274286 HGNC:282 00086 104260 REVIEWED 737381 ADRA2A adrenoceptor alpha 2A Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008] 10 10 10 q25.2 106568388 106572263 + 112836790 112840665 + 111077032 111080907 + 1559309;1331525;1358368;1580863;1625183;6480484;6480273;6480479;6480481;6480482;6480483;6480488;6480464;6480487;6480106;2316628;6480490;6893571 10909127;12946573;15118671;16178932;16636200;17959985;19150055;19894027;19965390;20047711;20302880;20691504;21542970;21669254;21745713;21871540 10224112;10647009;10896916;10948191;10948198;10952463;11039642;11140838;11154706;11248750;11313909;11343863;11425010;11467765;11475011;11732925;11886485;11888275;12019440;12023679;12054508;12080184;12370125;12477932;12529373;12544508;12627476;12707939;12815749;12946937;1334200;1354394;1385431;15006432;15028622;15070958;15123239;15138209;15164054;15199368;15489334;15494033;15520832;15592690;15653687;15717291;15719154;15719258;15782186;15795790;15824464;15920038;15939803;16172611;16333651;16352729;16389583;16464220;16513442;16531006;16567612;16583406;16605244;16728691;1678390;1678850;16806103;16809338;16823803;16854373;16869226;16917924;17034020;17075692;17081983;17159089;17215105;17283289;17512307;17522710;17544870;17612790;17655760;17655843;17894416;17971028;18075481;18200436;18240029;18314873;18480058;1849485;18511740;18547701;18561481;18577758;18600088;18725220;18794646;18842695;18996102;19058789;19086053;19088492;19309415;19352218;19365399;19388931;19401164;19423370;19439247;19477270;19491387;19506906;19568979;19604092;19833115;19834535;19874574;19876010;19913121;19922756;20044737;20081858;20110357;20135061;20146095;20419449;20468064;20526338;20532885;20538960;20551163;20571754;20602615;20613626;20628086;20660048;20692245;20696855;20705341;20731965;20833658;20850464;20864182;20952631;21059181;21063237;21070505;21103886;21104443;21105277;21298412;21325151;21455730;21613201;2170371;21823169;22061269;22091949;22292987;22560155;22581228;22694918;22940547;23105096;23153004;23207081;23266789;23462695;23526671;23751900;23808549;24026714;24178896;24522021;24723553;2568356;2823383;6259160;7876239;7887906;8011430;8098045;8226727;8889548;9235896;9624180 150 P08913 ABBA01063019;AF262016;AF281308;AF284095;AF316894;AL158163;AMYH02023802;AY032736;BC035047;BC050414;BM682651;CH471066;DQ149926;DQ285607;EU332846;M18415;M23533;NG_012020;NM_000681 AAA51664;AAA51665;AAF91441;AAG00447;AAH35047;AAH50414;AAK01634;AAK26743;AAK51162;AAZ73101;ABB72683;ABY87535;EAW49547;NP_000672;P08913 Hs.249159 1681586;1742221;2138424;2139567;2218192 ADRA2A__4205;D10S1861;GDB:193856;RH93859;STS-AA040321 ADRA2;ADRA2R;ALPHA2AAR;ZNF32 ADRAR;OTTHUMP00000020485;adrenergic receptor, alpha 2a;adrenergic, alpha-2A-, receptor;alpha-2 adrenergic receptor subtype C10;alpha-2-adrenergic receptor, platelet type;alpha-2A adrenergic receptor;alpha-2A adrenoceptor;alpha-2A adrenoreceptor;alpha-2AAR subtype C10 APPROVED protein-coding ENSG00000150594 HGNC:281 00078 104210 REVIEWED 733119 ADRA1B adrenoceptor alpha 1B Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008] 5 5 5 q33.3 155374535 155430824 + 159343740 159400017 + 159916733 159985786 + 1559318;1580863;1625771;1625772;5508374;6480464;8554872 11454900;14581480;15795180;16095979 10652206;10820200;12023679;12184796;12409310;12477932;12644451;12695539;1328250;14626446;14736874;15174051;15220331;15297446;15525470;15690361;15824464;16297597;16352594;1662393;16645408;16754659;1706716;17220353;17365508;17681068;17973108;18240029;18257748;18336813;18523139;18577758;19058789;19086053;19334040;19910028;19913121;19919991;20379614;20468064;20538960;20628086;20816195;20857090;21063774;21223784;21224381;21298476;2154750;22019450;22723743;23052569;23061915;23717684;23793025;23877383;7815325;8024574;8183249;8617782;9353340;9481484 147 P35368 ABBA01044235;AC011343;AC068657;AC127458;AMYH02012590;AMYH02012591;BC136568;BC136569;BQ576306;CH471062;EU332831;L31773;M99589;M99590;NM_000679;U03865;XM_005265818;XM_005265819;XM_006714821 AAB59485;AAB60352;AAI36569;AAI36570;ABY87520;EAW61572;NP_000670;P35368;XP_005265875;XP_005265876;XP_006714884 Hs.368632 1755671;1792428;2127160;2152137 D5S2442;PMC150908P1;RH69212;SHGC-142517 ADRA1;ALPHA1BAR OTTHUMP00000160844;adrenergic, alpha-1B-, receptor;alpha-1B adrenergic receptor;alpha-1B adrenoceptor;alpha-1B adrenoreceptor;alpha-1B-adrenergic receptor APPROVED protein-coding HGNC:278 00080 104220 REVIEWED 731289 ADRB1 adrenoceptor beta 1 The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008] 10 10 10 q25.3 109531177 109534039 + 115803806 115806667 + 114044047 114046908 + 737773;1559319;737774;1331525;1580863;4145102;4140391;4140443;5129127;5129131;5129149;5129114;5129135;5129132;5129115;5129119;5129118;5129125;5129107;5129116;6480464;6893642;6893641;6893638;6893644;6907045;7240710;7241557;7241563;7241565;7241568;7241815;7241549;7241580;8548468 10577992;11527135;12161655;14502278;15118671;15592645;1648674;16785856;17143192;17278011;18275933;18287209;18306009;19060223;19110970;19127141;19283893;19587314;19745105;19785950;20203292;20398560;20451506;20948559;20959119;21054861;21491159;21831645;8181801 10212248;10477438;10535961;10794544;10862778;10995758;11052857;11140838;11337934;11447084;11526121;11700307;11753577;11854867;11942593;12023679;12029453;12032746;12036966;12069593;12090746;12106601;12140284;12184796;12197595;12244098;12270132;12374873;12391161;12422153;12455717;12519093;12529373;12544508;12643891;12709726;12724327;12815745;12844134;12847069;12851615;12921807;14534524;14553962;14734649;14990580;15055253;15079793;15086532;15123239;15212591;15212839;15237695;15312808;15331590;15342173;15358775;15388645;15452121;15464701;15479221;15542284;15564877;15685248;15719258;15735607;15824464;15833937;15861037;15864115;15917856;15932670;16122377;16153393;16187973;16189366;16210433;16227135;16287427;16315032;16316992;16325708;16402084;16421173;16485781;16487965;16500896;16534528;16648137;16728691;16760361;16765375;16815314;16844790;16907703;16914520;16940053;16946993;16997396;17023080;17118120;17217681;17223428;17270896;17329986;17334644;17335470;17339538;17345787;17383306;17463065;17496726;17512307;17541557;17585213;17591269;17635183;17644825;17667029;17680533;17845930;17893006;17919552;17998459;18059082;18075464;18155231;18158268;18193079;18209576;18219297;18239290;18240029;18253135;18298953;18308161;18311486;18323523;18331634;18346809;18403719;18413308;18413560;18429752;18452871;18479335;18534365;18540901;18596718;18615004;18622236;18625943;18679149;18702937;18702968;18754404;18772317;18773997;18776959;18787115;18794726;18797399;18936436;18937294;18947427;18996102;19010176;19033826;19036891;19037712;19056576;19073901;19086053;19094446;19167638;19301767;19378229;19477404;19509284;19515093;19538012;19542315;19553224;19576569;19578796;19621046;19623647;19628119;19673943;19743955;19779464;19842931;19845516;19883298;19913121;19956635;20023040;20044737;20079238;20116105;20123316;20129829;20144152;20185488;20235788;20300048;20352314;20374546;20384459;20414837;20426789;20443839;20459474;20468064;20470286;20537417;20538960;20581797;20587416;20602615;20625396;20628086;20643254;20693591;20705341;20726983;20731869;20803192;20821015;20831043;20952631;21034538;21044781;21059181;21238583;21305273;21311897;21375401;21422729;21464135;21516734;21527343;2154750;21553224;21573230;21599570;21626217;21807569;21847570;21878665;21909110;22192668;22253823;22299391;22306453;22340652;22378779;22388998;22447021;22495925;22617224;22703382;22723743;22742717;22811559;22815685;22994654;23060133;23065660;23114278;23115322;23202124;23223178;23257656;23261005;23266473;23271137;23275278;23318885;23351074;23370410;23533220;23588958;23729404;24121510;24151242;24324269;24332148;24334028;24342311;24371822;24437165;24466231;2465637;24885710;2536864;2825170;6305985;7583452;8892658;9843378 153 P08588 ABBA01062983;AF169006;AF169007;AF272890;AL355543;AMYH02023847;AY567837;CH471066;CS566006;EU332832;HI639505;J03019;NG_012187;NM_000684 AAA51667;AAD53696;AAD53697;AAI69224;AAI69225;AAI69226;AAS66983;ABY87521;CAN37601;CBX55891;EAW49485;NP_000675;P08588 Hs.99913 1742217;1775185;1775719;1790733;2113952;5493605 ADRB1;GDB:193846;RH68963;STS-U29690;UniSTS:256461;UniSTS:489671 ADRB1R;B1AR;BETA1AR;RHR OTTHUMP00000020519;adrenergic receptor, beta 1;adrenergic, beta-1-, receptor;beta-1 adrenergic receptor;beta-1 adrenoceptor;beta-1 adrenoreceptor APPROVED protein-coding ENSG00000043591 HGNC:285 00181 109630;607276 REVIEWED 737467 ADRB3 adrenoceptor beta 3 The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. [provided by RefSeq, Feb 2009] 8 8 8 p12 36772222 36775893 - 37820513 37824184 - 37962995 37966666 - 1559325;1559326;1559323;737773;1580863;1331525;1300267;2313165;2313163;2313161;2313164;2313148;2313149;2313167;2313158;2313166;5129115;5129107;5129118;5684357;5684359;5684890;2292119;5684917;5684773;5684403;5684400;5684412;5684422;5684775;5684894;2311642;5684776;5684892;5684893;5684895;5684355;6480464;5684421;5684398;5684409;6907045;7240710;8554872 10421225;10582543;10930169;10981554;11014217;11229427;11273992;11803250;11882399;12161655;12739037;15118671;15318095;15743038;16444766;16634992;17299491;17440948;17727676;17999941;18492028;19158405;19373220;19659999;19785950;20123316;20203292;20536507;20739470;20808804;21054861;21285172;21549119;7609752;8011597;9126344;9313761;9867224;9892244 10391210;10786926;10805511;10999801;11013230;11093283;11095426;11147800;11206402;11213599;11244458;11287026;11288809;11315829;11380082;11434877;11439286;11466580;11522702;11532330;11573151;11576322;11592045;11699048;11706779;11716317;11743056;11743057;11769635;11798745;11808891;11854867;11872697;11875710;11949887;11984699;12008746;12036966;12037740;12062855;12082592;12133431;12164325;12169859;12241539;12370850;12406043;12410955;12411100;12442007;12453902;12477932;12544508;12561621;12568179;12629568;12647276;12670949;12690078;12709137;12732844;12739018;12824951;12917707;12962933;1336117;14506613;14510956;14671190;14690019;14708035;14713387;14715679;14739355;14742851;14747257;15042014;15061987;15079793;15123695;15166301;15179018;15192823;15193960;15302798;15334374;15334382;15340101;15355441;15464701;15472194;15479221;15489334;15489932;15536594;15543217;15563584;15585565;15613846;15641247;15670186;15751274;15824464;15833937;15915764;15917856;15932670;15939803;15942638;15956122;15959859;16009000;16027735;16054001;16276029;16286518;16301818;16320158;16344560;16369102;16408483;16449022;16493638;16648810;16715838;16779985;16820065;17046546;17087055;17124363;1718744;17190106;17225053;17264845;17270896;17299381;17342473;17345787;17345789;17378367;17439327;17445027;17476189;17512307;17591269;17616777;17624182;17626108;17631141;17640319;17785925;17786291;17852419;17910280;17940985;17989355;17998022;18054709;18088254;18239290;18240029;18249022;18249219;18273796;18311486;18331634;18335327;18393130;18422027;18426866;18441513;18482921;18484422;18510051;18513389;18574485;18611262;18617734;18625943;18636124;18704193;18724972;18753860;18820136;18852493;18936436;18940396;18996102;18996293;19026982;19056576;19080138;19099777;19131662;19193342;19263529;19271249;19295193;19367093;19420105;19479237;19491387;19553224;19565482;19576569;19578796;19587357;19779464;19842096;19913121;20008926;20044737;20069060;20078877;20144152;20384434;20401689;20410100;20449541;20459474;20467565;20468064;20503258;20602615;20628086;20662153;20686326;20705341;20730725;20735409;20803423;20831043;20953633;21033077;21034552;21085551;21358132;21529759;21878665;21940308;21959333;21992420;22306453;22430195;22550477;22609474;22692629;22743651;22774401;22774474;22972489;23032405;23113754;23235150;23282015;23292548;23360304;23388888;23454374;23640967;23729572;23736006;23907236;23968135;24138564;24190960;24201118;24556804;24741957;24885710;25059067;2570461;7565630;7609625;7898940;8288218;8380813;8389293;8389717;8641219;8721782 155 A8KAG8;P13945 ABBA01023564;AC144573;AK293033;AK309919;AK313857;AMYH02017820;AY487247;BC075017;BQ024407;CH471080;DA904248;DQ104441;FJ170286;FJ170287;M29932;NG_011936;NM_000025;S53291;X70811;X70812;X72861 AAA35550;AAB24837;AAH75017;AAR37414;AAY88743;ACL14174;ACL14175;BAF85722;BAG36585;CAA50141;CAA50142;CAA50143;CAA51383;EAW63343;EAW63344;NP_000016;P13945 Hs.2549 1777834;1792786;1794066;1795328;2184012;5022784;5492340 ADRB3;ADRB3_418;D8S2331;MARC_68773-68774:1209743884:2;PMC164531P1;PMC310777P4;WI-9207 BETA3AR;FLJ99960 OTTHUMP00000225623;adrenergic, beta-3-, receptor;beta-3 adrenergic receptor;beta-3 adrenoceptor;beta-3 adrenoreceptor 2289520;2314765;2314776 BW458_H;GLUCO100_H;GLUCO101_H APPROVED protein-coding ENSG00000188778 HGNC:288 00188 109691;601665 REVIEWED 737142 ADRA2C adrenoceptor alpha 2C Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008] 4 4 4 p16 3671112 3673097 + 3768296 3770253 + 3766569 3768526 + 1300355;1580863;6480464;6893568;6893571;7240710 12374873;12946573;20007733 10196213;10224112;10647009;10801795;10945659;11140838;11154706;11313909;11317218;12210281;12477932;12946937;1349607;15319474;15345481;15542284;15592690;15683753;15719258;15861038;15920038;15946904;16187973;16299019;16407897;16464220;16531006;16569551;16605244;16636200;17075692;17192578;17215105;17223428;17351367;17383306;17496726;17644575;17655760;17971028;18071056;18075481;18240029;18308161;18320080;18435421;18487435;1849485;18511740;18577758;18698227;18702968;18776959;18794726;18835330;18947427;19167638;19309415;19352218;19423370;19444546;19477270;19477404;19742303;19874574;19880803;20128806;20398908;20613626;20692245;20705341;21041608;21298476;22040172;22503931;22560155;23275278;23868076;2842764;7688069;8188260;9235896;9371698 152 D6RGL0;P18825;Q4W594 ABBA01029458;AC141928;AF280399;AF280400;AMYH02008638;AY455666;AY605898;BC142625;CS566010;D13538;EU332833;HI639509;J03853;NG_012640;NM_000683;U72648;X72924 AAA35513;AAC78723;AAG28076;AAG28077;AAI42626;AAR18071;AAT02221;AAY41059;ABY87522;BAA02737;CAN37604;CBX55893;NP_000674;P18825 Hs.123022 1661855;1775960;5492869 D4S3282;STS-J03853;UniSTS:483109 ADRA2L2;ADRA2RL2;ADRARL2;ALPHA2CAR OTTHUMP00000216667;adrenergic receptor, alpha 2c;adrenergic, alpha-2C-, receptor;alpha-2 adrenergic receptor subtype C4;alpha-2C adrenergic receptor;alpha-2C adrenoceptor;alpha-2C adrenoreceptor;alpha-2C-adrenergic receptor;alpha-2CAR;alpha2-AR-C4 APPROVED protein-coding ENSG00000184160 HGNC:283 00085 104250 REVIEWED 730840 ADRBK2 adrenergic, beta, receptor kinase 2 The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008] 22 22 22 q12.1 9765035 9929436 + 25960861 26125259 + 25564894 25729294 + 1580863;632163;5133417;5147387;5685025;5685027;5685029;5685370;6480464;6484113;6907045;7207060;8554872 1403099;15637145;16304060;16484629;17996024;19400979;19728039;20677219 10085131;10591208;10754297;11060299;11517230;11668182;11762794;12130708;12477932;12808434;14702039;15087239;15498832;15728711;17106420;17621168;18029348;18075471;18274673;18359007;1869533;19086053;19766236;19913121;20216086;20379614;20398908;20468064;20596523;20628086;20734064;21139048;21784156;21916780;22086906;22505724;22623531;23455922;23734232;24434559;24816145;7695743;8427589;8662816;9826657 157 H7C099;P35626;Q8N433 ABBA01055180;ABBA01055181;AK055687;AK058103;AK123767;AK124922;AK292234;AK310398;AL022329;AMYH02038158;AMYH02038159;BC021221;BC029563;BC036797;BC063545;BX387339;CH471095;NM_005160;X69117;XM_006724158 AAH36797;BAF84923;CAA48870;EAW59698;EAW59699;EAW59700;EAW59701;NP_005151;P35626;XP_006724221 Hs.657494 1334767;1336133;1336957;1341006;1341668;1341696;1653354;1655226;1663395;1666464;1673926;1680242;1682121;1684036;1686398;1711482;1720211;1730744;1760211;1772081;1774990;1776656;1795330;2127095;2149539;2150348;2153422;2158684;2164187;2168077;2174523;2181690;2186142;2187359;5022578;5037552;7185247;7185672;7186498 A004P15;ADRBK2_694;AL021680;AL022481;AL022484;D1S1423;D22S1032;D22S1035;D22S1136;D22S1164;D22S1557;D22S258;D22S315;D22S414;D22S419;D22S421;D22S533;D22S557;D22S650;D22S687;D22S926;D8S2279;G31025;G49242;RH124019;RH1697;RH27881;RH69573;RH70879;SHGC-132492;SHGC-2326;SHGC-30096;SHGC-31725;SHGC-33468;STS-H06831;STS-T29185 BARK2;GRK3 G-protein-coupled receptor kinase 3;OTTHUMP00000196857;beta-ARK-2;beta-adrenergic receptor kinase 2 APPROVED protein-coding ENSG00000100077 HGNC:290 00183 109636 REVIEWED 731036 ADRBK1 adrenergic, beta, receptor kinase 1 The product of this gene phosphorylates the beta-2-adrenergic receptor and appears to mediate agonist-specific desensitization observed at high agonist concentrations. This protein is an ubiquitous cytosolic enzyme that specifically phosphorylates the activated form of the beta-adrenergic and related G-protein-coupled receptors. Abnormal coupling of beta-adrenergic receptor to G protein is involved in the pathogenesis of the failing heart. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 64377313 64386599 + 67033905 67054029 + 67266434 67286558 + 1580269;737775;1580863;632163;1625784;1625786;1625788;1625789;1625791;737776;1625790;4140391;5133417;5688380;5688373;6480464;5688378;5685370;6484113;6907045;7207470;5135529;7207060;8549590 10094932;10642272;11331748;1403099;15097244;15637145;15994203;16142243;16304060;16478977;16849637;17256744;17996024;18662895;19110970;19229505;19395963;23759942;9618528;9931137 10085129;10085131;10091590;10379886;10467231;10574913;10617630;10722682;10727525;10744734;10754297;10852916;10858453;10861009;10884381;10896954;11040053;11042191;11278469;11309381;11517230;11762794;12107237;12123746;12130691;12130708;12163475;12351722;12379128;12381737;12435819;12456365;12477932;12486133;12507501;12552191;12624098;12639913;12679936;12750365;12885252;1339451;14557268;14654844;14729942;14997482;15051637;15271984;15471870;15489334;15542600;15569306;15618519;15620700;15653687;15778405;15843435;15870073;15919661;16077899;16081410;16091361;16094730;16121194;16356165;16605244;16725308;16920721;16984558;17000469;17006543;17008309;17055984;17102134;17146290;17276003;17482545;17544362;17548351;17893145;17986524;17998459;18369319;18425130;18451066;18463167;18511496;18854154;18976975;19257866;19292735;19306925;19338266;19400979;19487588;19620130;19815545;19846537;19906838;19913121;19946888;19953087;20080565;20335112;2037065;20443852;20443948;20460384;20468064;20493668;20501412;20627936;20628086;20684281;20696855;20730384;20807772;20814022;20861385;21081496;21127457;21283592;21357420;21464134;21473908;21705320;21784156;21890473;21900206;21940795;21952200;21983013;21988832;22089113;22193721;22196842;22375000;22505724;22589388;22731384;22735336;23029581;23076141;23082996;23139825;23208013;23221335;23312955;23362259;23455922;23460259;23467820;23494575;23689525;23705503;23734232;23904266;23940030;24064210;24135140;24169548;24465168;24654937;24812353;24816145;7836371;7876239;8195124;8662816;8885248;9211925;9446593;9501202;9826657 156 E9PRV7;P25098 AB209588;ABBA01024041;ABBA01024042;AI888604;AK131506;AMYH02024989;AMYH02024990;AMYH02024991;AP001885;BC037963;BC090863;CH471076;DN989901;EU326303;M80776;NM_001619;U08435;U08436;U08437;U08438;X61157 AAA58391;AAB60689;AAH37963;AAH90863;ABM82074;ABM85254;ACA05909;BAD92825;CAA43470;EAW74581;EAW74582;NP_001610;P25098 Hs.83636 2113958;2177282;2191167;5492139 ADRBK1;MARC_15697-15698:1013523581:1;WI-15244;adrbk1sts1 BARK1;BETA-ARK1;FLJ16718;GRK2 G-protein coupled receptor kinase 2;OTTHUMP00000235171;beta-ARK-1;beta-adrenergic receptor kinase 1 APPROVED protein-coding ENSG00000173020 HGNC:289 00182 109635 REVIEWED 1316916 ADSL adenylosuccinate lyase Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 24544565 24564639 + 40742504 40762577 + 40346500 40366573 + 1598762;1598766;1598760;1580863;5135488;6480464;6907045;7240710;8554872;8699517 20005278;2937404;3360219;3690833 10090474;10591208;10888601;10958654;11256614;11428554;12016589;12368987;12477932;12590570;12833398;1302001;15342556;15461802;15471876;15489334;15571235;1574589;16196087;16973378;17188615;18029348;18524658;18649008;19405474;19570815;19615732;20177786;20562859;20877624;20933180;21110914;21139048;21890473;21906983;21963094;21988832;22180458;22505724;22812634;22863883;22939629;23714113;24722188;24816145;8125298;8366112;8404037;9195976;9266401;9545543 158 P30566;V9GY96;X5D8S6 ABBA01055600;ABBA01055601;ABBA01055602;AF067853;AF067854;AF106656;AK225042;AK291091;AK298187;AK300705;AK308662;AL022238;AMYH02038403;BC000253;BC018881;BP298407;CH471095;CR456368;KJ534763;KJ535007;KJ535020;KJ535041;KJ535056;NG_007993;NM_000026;NM_001123378;S60710;X65867 AAC21560;AAC21561;AAC60603;AAC83935;AAH00253;ABM84252;ABM87641;AHW56403;AHW56646;AHW56659;AHW56680;AHW56695;BAF83780;BAG60458;BAG62384;CAA46696;CAA46697;CAG30254;CAK54366;CAK54665;EAW60375;EAW60376;EAW60377;NP_000017;NP_001116850;P30566 Hs.75527 1677296;1684184;1707456;1735046;5017202;5123132 D22S966E;RH27785;RH71398;RH77705;RH98333;SHGC-84522 AMPS;ASL ASASE;OTTHUMP00000199172;OTTHUMP00000199173;adenylosuccinase APPROVED protein-coding ENSG00000239900 HGNC:291 00049 103050;608222 REVIEWED 736707 ADRM1 adhesion regulating molecule 1 This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 q13.33 57613180 57619071 + 60877112 60884206 + 62302056 62308862 + 1580863;6480464;8554872 10919708;11780052;11818576;12477932;14702039;15489334;15819879;16196087;16501559;16713569;16815440;16906146;16990800;17081983;17139257;17323924;17573772;18029348;18162577;18497817;18497827;18615678;18781797;18922472;18939944;19013454;19148532;19193609;19615732;19781552;19815544;19818731;20029029;20059542;20137344;20417181;20471946;20634424;20639865;20959455;20972266;21139048;21191146;21432940;21832049;21890473;21906983;21963094;21987572;22053931;22057889;22118674;22505724;22576803;22797925;22863883;23000965;23153250;23503661;23535732;24429290;24654937;24752541;24811749;24816145;25015289;8033103 11047 Q16186 ABBA01040097;AK054985;AK297567;AK307459;AL354836;AL558522;AMYH02037419;BC003059;BC010733;BC017245;BC093021;BG337785;BR000321;CH471077;CR749213;D64154;HY029018;HY178253;NM_001281437;NM_001281438;NM_007002;NM_175573;XM_005260257 AAH10733;AAH17245;ABM84246;ABM87634;BAA11023;BAG59959;CAH18070;EAW75375;FAA00246;NP_001268366;NP_001268367;NP_008933;NP_783163;Q16186;XP_005260314 Hs.90107 1690854;2135518;5113030 RH17482;RH79208;RH91973 ARM-1;ARM1;GP110;MGC29536;Rpn13;hRpn13 110 kDa cell membrane glycoprotein;M(r) 110,000 surface antigen;OTTHUMP00000031471;adhesion-regulating molecule 1;proteasomal ubiquitin receptor ADRM1;proteasome regulatory particle non-ATPase 13;regulatory particle non-ATPase 13;rpn13 homolog APPROVED protein-coding ENSG00000130706 HGNC:15759 06440 610650 REVIEWED 733595 ADRB2 adrenoceptor beta 2, surface This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes. [provided by RefSeq, Jul 2008] 5 5 5 q31-q32 144288206 144290248 + 148206156 148254628 + 148826593 148828634 + 1559320;1559319;737773;1598757;1598759;1580863;1598745;1598746;1598754;1331525;1601119;1601124;1601120;1601121;1601125;1601123;1578728;1601122;1601126;1601127;1601128;4145081;4145094;4145080;4145095;2325640;4140935;4144900;4145041;4144884;4145093;4145097;4145061;4145098;4145086;4145092;4145099;4145108;4140444;4145082;4145096;4145105;4140391;4144883;4145107;4144899;4140443;5129151;5129114;5129118;5129113;5129107;5129128;5129119;5129132;5508374;6480464;6907045;7175063;7175066;7175274;7175276;7175281;7175283;7175285;7175286;7175287;7240710;8548519;8548470;8548533;8548468;8548529;8548489;8548488;8548492;8548486;8548508;8548487;8548494;8548498;8548530;8548467;8548469;8554872 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3676;20201926;20210814;20215008;20230274;20235788;20237834;20300048;20308035;20335826;20345371;20352314;20374546;20384434;20395454;20395963;20399803;20401689;20413987;20416077;20424170;20431605;20452482;20459474;20467565;20468064;20503287;20515505;20519311;20519561;20521014;20523301;20536507;20537417;20537997;20538960;20544957;20546196;20559325;20565774;20602615;20603037;20628086;20673868;20682155;20686604;20703737;20705341;20708651;20726983;20727557;20734064;20736788;20738880;20739277;20803192;20816195;20829805;20831043;20885911;20929600;20930716;20981007;21034538;21038778;21044781;21054877;21059181;21183077;21200338;21215823;21228869;21228876;21233811;21233812;21262196;21289629;21298476;21330366;21337626;21362625;21385652;21394004;21406495;21414566;21426793;21436355;21448689;21450583;21481814;21483652;21488193;21541288;2154750;21573230;21599570;21600547;21605442;21621562;21622536;21626217;21703359;21722392;21772288;21801278;21807569;21816540;21829036;21857662;21868355;21868357;21868359;21883537;21889352;21905268;21916780;21956331;21959333;21963428;21964067;21990357;22010988;22031696;22048503;22075484;22115535;22167199;22179058;22190857;22192964;22194601;22210825;22241475;22267580;22297552;22299391;22328447;22383665;22399228;22416031;22441538;22447021;22466342;22483689;22495178;22500016;22552340;22559839;22582545;22584966;22613709;22624056;22628317;22647787;22683571;22731644;22742717;22743651;22748765;22763735;22772314;22793522;22796455;22821646;22862293;22864926;22881137;22883364;22884155;22900502;22948827;22950544;22985077;22994654;23020224;23056231;23151510;23166351;23229623;23229733;23236378;23243208;23245479;23261005;23266473;23267209;23302795;23318885;23330094;23374348;23384627;23438238;23448263;23463918;23515162;23527545;23548523;23548524;23557075;23631811;23724117;23729404;23760429;23786226;23798571;23879802;23911093;23936460;23964556;23989552;24003153;24012958;24016068;24056936;24190883;24206668;24228710;24279851;24322328;24342311;24366725;24373571;24561123;24614156;24621682;2470898;24714117;2471981;24722188;24727057;24760207;24823730;24831005;24885710;2540197;2541947;2564629;2823249;2831218;2837466;3025863;3034889;7608160;7680566;7706471;7797501;7901205;7915137;8125298;8308019;8383511;8386307;8557631;8662852;8892658;9228019;9235896;9399946;9507004;9560162;9671706;9819198;9830057;9880537;9924018 154 P07550;Q9BYZ0 AA886615;ABBA01026314;AC011354;AF022953;AF022954;AF022955;AF022956;AF169225;AF202305;AF203386;AK223025;AK313151;AMYH02012440;AY011291;AY136741;BC012481;BC063486;BC073856;CH471062;DA705141;DQ094845;HC295426;J02960;KJ534762;M15169;NG_016421;NM_000024;X04827;Y00106 AAA88014;AAA88015;AAA88017;AAB82148;AAB82149;AAB82150;AAB82151;AAD48036;AAF17569;AAF20199;AAG35451;AAH12481;AAH63486;AAH73856;AAN01267;AAY88739;AHW56402;BAD96745;BAG35969;CAA28511;CAA68289;CBJ06537;EAW61798;NP_000015;P07550 Hs.2551 1682013;1743199;1745399;1745401;1745403;1791159;1791418;1791568;1795326;2178460;5017703 ADRB2;ADRB2_1263;ADRB2sts1;GDB:294209;GDB:606222;GDB:606238;GDB:606265;PMC109640P1;PMC115184P1;RH79898;WI-19151 ADRB2R;ADRBR;B2AR;BAR;BETA2AR OTTHUMP00000160386;adrenergic receptor, beta 2;adrenergic, beta-2-, receptor, surface;adrenoceptor beta 2 surface;beta-2 adrenergic receptor;beta-2 adrenoceptor;beta-2 adrenoreceptor;catecholamine receptor 2289514;2289517 BW455_H;BW456_H APPROVED protein-coding HGNC:286 00187 109690;600807;601665 REVIEWED 1601680 AE01 uncharacterized LOC440670 1 q21.1 146401706 146420042 + 10574462;12477932;14702039;16079250 440670 AC026900;AL359176;XM_001717398 XP_001717450 KIAA1245;NBPF9 hypothetical LOC440670 APPROVED protein-coding 613999 1351020 ADSSL1 adenylosuccinate synthase like 1 ADSSL1 is a muscle isozyme of adenylosuccinate synthase (EC 6.3.4.4), which catalyzes the initial reaction in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP) (Sun et al., 2005 [PubMed 15786719]).[supplied by OMIM, Dec 2008] 14 14 14 q32.33 85245724 85268719 + 105190534 105213662 + 104724197 104747325 + 5143928;5143930;1598762;6480464;6907045 10218106;2560335;3360219 11560929;12477932;14702039;15489334;1574589;15786719;21988832 122622 B3KTV4;G3V232;G3V2N1;G3V5D8;Q8N142;S4R2Z1 ABBA01002986;ABBA01002987;AK095921;AK096124;AK096720;AL583722;AMYH02029951;AY037159;BC032039;BC047904;BX248286;CH471061;NM_152328;NM_199165;XM_006720026 AAH32039;AAH47904;AAK67646;BAC04649;BAG53216;BAG53356;CAD62614;EAW81876;NP_689541;NP_954634;Q8N142;XP_006720089 Hs.592327 1854061;2132787;2132789 A001U22;G19662;SGC32943 FLJ38602;adSS 1 AMPSase 1;IMP--aspartate ligase 1;M-type adenylosuccinate synthetase;OTTHUMP00000244483;OTTHUMP00000244484;adenylosuccinate synthetase isozyme 1;adenylosuccinate synthetase, basic isozyme;adenylosuccinate synthetase, muscle isozyme APPROVED protein-coding ENSG00000185100 HGNC:20093 12433 612498 VALIDATED 1321450 ADSS adenylosuccinate synthase This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010] 1 1 1 q44 217861837 217905438 - 244571794 244615436 - 244408492 244452134 - 1580863;5143928;5143930;1598762;6480464;6907045 10218106;2560335;3360219 12477932;15489334;1574589;15786719;1592113;18029348;18469177;18721483;19115993;2004783;20562859;21139048;21145461;21890473;21906983;22505724;22863883;22939629;23000965;23251661;23455924;24816145;25015289;25027693;4436310;648524;8887278 159 P30520 ABBA01047198;AK025514;AK303886;AK308749;AL591594;AL645465;AMYH02003082;AMYH02003083;BC012356;BE538442;BG700800;BI559850;CH471148;NM_001126;X66503 AAH12356;ACE86444;ACE87120;BAG64822;CAA47123;EAW77102;EAW77103;NP_001117;P30520 Hs.498313 1705696;1707196;1750869;1849333;1857867;2153375;5017869 ADSS;SHGC-104641;SHGC-31639;SHGC-76611;SHGC-76618;SHGC-79184;SHGC-83429 ADEH;ADSS 2;MGC20404 AMPSase 2;IMP--aspartate ligase 2;L-type adenylosuccinate synthetase;OTTHUMP00000037982;adenylosuccinate synthetase (Ade(-)H-complementing);adenylosuccinate synthetase isozyme 2;adenylosuccinate synthetase, acidic isozyme;adenylosuccinate synthetase, liver isozyme APPROVED protein-coding ENSG00000035687 HGNC:292 00050 103060 REVIEWED 1313849 ADTRP androgen-dependent TFPI-regulating protein FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (S)-nicotine; benzo[a]pyrene; cobalt dichloride 6 6 6 p24.1 12941888 13007296 - 11711505 11779861 - 11713655 11779628 - 6480464 12477932;14574404;14702039;15342556;15489334;16415175;20379614;21378986;21618603;21868574;21988832;23337689 84830 D6R9A9;D6RDG9;H0Y9P4;H0YAA5;Q96IZ2 ABBA01022105;AI147084;AI336841;AJ420520;AK123258;AK300919;AK310611;AK313114;AL022724;AMYH02013108;AMYH02013109;BC007011;BP330027;CH471087;DC388625;JA738637;JA738639;NM_001143948;NM_032744;XM_005249454;XM_005249455 AAH07011;BAG35936;BAG62551;CCF76971;CCF76972;EAW55304;EAW55305;EAW55306;NP_001137420;NP_116133;Q96IZ2;XP_005249511;XP_005249512 Hs.126409 1684818;1849452 RH48372;RH98426 AIG1L;C6orf105;MGC12335;RP3-413H6.1;dJ413H6.1 OTTHUMP00000016034;OTTHUMP00000016035;OTTHUMP00000221435;OTTHUMP00000221436;OTTHUMP00000221438;androgen-dependent TPF1-regulating protein;androgen-induced 1-like;hypothetical protein LOC84830 APPROVED protein-coding ENSG00000111863 HGNC:21214 12836 614348 VALIDATED 1601976 AEN apoptosis enhancing nuclease ENCODES a protein that exhibits exonuclease activity; INVOLVED IN intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; nucleic acid phosphodiester bond hydrolysis; response to ionizing radiation; FOUND IN nuclear membrane; nucleolus; nucleoplasm; INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 15 15 15 q26.1 65565411 65576403 + 89164527 89175512 + 88620927 88632281 + 6480464 12477932;14702039;16171785;17207965;18029348;18264133;18816836;20429933;21906983 64782 H0YMJ6;Q8WTP8 AB209323;ABBA01053000;AC013489;AF318330;AF327352;AK022546;AK022624;AK308119;AMYH02031006;BC005164;BC014407;BC020988;CA441442;CH471101;NM_022767;XM_005254966;XM_005254967;XM_006720644;XM_006720645 AAH05164;AAH14407;AAH20988;AAL55837;AAL56012;ADQ32293;BAB14091;BAD92560;EAX02009;EAX02010;EAX02011;NP_073604;Q8WTP8;XP_005255023;XP_005255024;XP_006720707;XP_006720708 Hs.436102 1669226 RH44907 FLJ12484;FLJ12562;ISG20L1;pp12744 OTTHUMP00000192920;apoptosis-enhancing nuclease;interferon stimulated exonuclease gene 20kDa-like 1;interferon-stimulated 20 kDa exonuclease-like 1 protein-coding ENSG00000181026 HGNC:25722 08573 610177 VALIDATED 1353915 AEZ acrodermatitis enteropathica, zinc-deficiency type HGNC:308 1348567 AFA ankyloblepharon filiforme adnatum ASSOCIATED WITH Ankyloblepharon filiforme adnatum cleft palate (inferred) 7240710 170 HGNC:310 106250 1350331 AF8T AF8 temperature sensitivity complementing 169 HGNC:309 116950 737345 AES amino-terminal enhancer of split The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 2987104 2997160 - 3052908 3062964 - 3052910 3063107 - 1580863;6480464 10395201;10660609;10748198;10825294;11266540;11390640;11416139;11748221;12030375;12050133;12358155;12441302;12477932;14702039;15006356;15057824;15489227;16002402;16169070;16713569;17353931;18438919;18854154;19322201;19460168;19460752;20163360;20676368;20936779;21139048;21245488;21890473;21906983;21937451;21963094;21987572;22354967;22505724;22863883;23000965;23546594;23732115;23840876;24722188;24816145;8365415;8889549;9809752;9887105 166 K7ELE3;K7ELQ8;K7EQH5;Q08117;Q8WY48 ABBA01002792;ABBA01002793;ABBA01002794;ABBA01002795;ABBA01002796;AC005944;AF072902;AF269289;AK094591;AK095154;AK314713;AMYH02035235;AMYH02035236;BC113735;BC113737;BG696926;BG913049;BM550097;BM908356;CH471139;N23852;NG_029870;NM_001130;NM_198969;NM_198970;U04241;U88832;X73357;X73358;XM_006722664 AAA16223;AAC35517;AAC72103;AAD00654;AAG23172;AAI13736;AAI13738;ADR82903;BAG37257;BAG52894;CAA51768;EAW69341;EAW69342;EAW69343;EAW69344;EAW69345;EAW69346;EAW69347;NP_001121;NP_945320;NP_945321;Q08117;XP_006722727 Hs.515053 1298107;1770453;1776133;2110243;5093656 A009U26;AES_7743;D19S1166;G32846;RH69316 AES-1;AES-2;ESP1;GRG;GRG5;TLE5 amino enhancer of split;gp130-associated protein GAM APPROVED protein-coding ENSG00000104964 HGNC:307 02556 600188 REVIEWED 1315812 AEBP1 AE binding protein 1 This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013] 7 7 7 p13 44241911 44252113 + 44143960 44154164 + 44104361 44114565 + 1580863;6480464;8554872 10510298;11438679;12477932;12690205;14702039;15654748;16307171;16344560;18624398;19179605;19199708;20396415;20419060;22723309;22796454;22821744;24344132;8889548;8920928;9099699;9624159 165 C9JLQ8;H7C0W8;H7C1J5;H7C391;H7C3D7;H7C4B5;Q8IUX7 AB209744;ABBA01058215;AC006454;AF053944;AK090931;AK127541;AK296001;AMYH02015616;BC038588;BM672693;CH236960;CH471128;D86479;DB213495;NM_001129 AAC25585;AAH38588;BAA13094;BAC87026;BAD92981;BAG52248;BAG58775;EAL23768;EAW61119;NP_001120;Q8IUX7 Hs.439463 1771667;2146707 A006F20;RH71212 ACLP;FLJ33612 AE-binding protein 1;OTTHUMP00000159251;adipocyte enhancer binding protein 1;adipocyte enhancer-binding protein 1;aortic carboxypeptidase-like protein APPROVED protein-coding ENSG00000106624 HGNC:303 04281 602981 REVIEWED 1352828 AFD1 acrofacial dysostosis 1, Nager type ASSOCIATED WITH Acrofacial dysostosis, Nager type (inferred) 7240710 171 HGNC:312 154400 1316303 AEBP2 AE binding protein 2 ENCODES a protein that exhibits metal ion binding (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (inferred); INVOLVED IN chromatin modification (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN ESC/E(Z) complex; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; cyclosporin A 12 12 12 p12.3 24745851 24829274 + 19592608 19675173 + 19439492 19522239 + 737633;6480464;9479059;8554872 12477932;24148750 10329662;12351676;15225548;16189514;16344560;16431907;18854154;19322201;21832049;21906983;21946350;23251661;23455924;24250222;24457600;24816145 121536 F5GZR7;G5EA50;H0YH08;H7BYT4;Q6ZN18 AA195771;AB209384;ABBA01067942;ABBA01067943;ABBA01067944;ABBA01067945;ABBA01067946;AC091805;AK025788;AK126973;AK131361;AK131410;AMYH02026137;AMYH02026138;BC015624;BC022220;CH471094;CX868393;DB244333;NM_001114176;NM_001267043;NM_153207;XM_006719031;XM_006719032;XR_242886 AAH15624;AAH22220;ABZ92093;BAD18513;BAD18557;BAD92621;BAG54413;EAW96398;EAW96399;EAW96400;NP_001107648;NP_001253972;NP_694939;Q6ZN18;XP_006719094;XP_006719095 Hs.126497 1659905;1851891;2117007;2151070;2185913 D12S1306;RH45148;RH45680;STS-N23390;WI-18350 MGC17922 AE(adipocyte enhancer)-binding protein 2;AE-binding protein 2;OTTHUMP00000239734;OTTHUMP00000239735;OTTHUMP00000239736;OTTHUMP00000239737;adipocyte enhancer-binding protein 2;zinc finger protein AEBP2 protein-coding ENSG00000139154 HGNC:24051 16477 VALIDATED 1606158 AFAP1L1 actin filament associated protein 1-like 1 FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH aflatoxin B1; cyclosporin A; pirinixic acid 5 5 5 q32 144733389 144803357 + 148651401 148721368 + 149271838 149341805 + 6480464 12477932;14702039;16344560;17353931;21333378;21516130;23251661;23326307 134265 Q8TED9 ABBA01026306;ABBA01026307;AC012613;AC131025;AK074185;AK094067;AK095980;AMYH02012441;AMYH02012442;BC040723;BC125093;BC125094;BM998635;CH471062;DA792192;NM_001146337;NM_152406;XM_005268373 AAH40723;AAI25094;AAI25095;BAB85011;BAC04277;BAC04664;EAW61787;NP_001139809;NP_689619;Q8TED9;XP_005268430 Hs.483793 1740455;2143267;2143272;2186563;2190945;5014656;5022651 D11S2921;D5S2256E;D5S2661;L31452;MARC_11935-11936:1003495836:1;STS-AA028117;WI-16209 FLJ36748;MGC149773 AFAP1-like protein 1;OTTHUMP00000223939;OTTHUMP00000223958;actin filament-associated protein 1-like 1 protein-coding ENSG00000157510 HGNC:26714 16943 614410 VALIDATED 4107292 AFAP1-AS1 AFAP1 antisense RNA 1 4 4 4 p16.1 7657683 7682522 + 7755817 7780655 + 7754090 7778928 + 12477932;23333711 84740 ABBA01012755;AC004169;AC112254;AMYH02008687;BC004397;BC014113;BC043614;NR_026892 Hs.663029 1693772;2133890;2137579;2145900;2145902;2153300;2155200;2182543 A005T26;D4S1132;G01837;G01905;G20482;SHGC-58846;SHGC-67377;SHGC-67969 AFAP1-AS;AFAP1AS APPROVED ncrna ENSG00000272620 HGNC:28141 VALIDATED 6481098 AFF2-IT1 AFF2 intronic transcript 1 (non-protein coding) q26 100874269 AC002368;HG512730 ncrna HGNC:41334 1321706 AFAP1L2 actin filament associated protein 1-like 2 ENCODES a protein that exhibits protein tyrosine kinase activator activity; SH2 domain binding; SH3 domain binding; INVOLVED IN inflammatory response; positive regulation of epidermal growth factor receptor signaling pathway; positive regulation of interleukin-8 production; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 4-nonylphenol; 5-aza-2'-deoxycytidine; arsenite(3-) 10 10 10 q25.3 109783766 109893772 - 116041248 116164515 - 114281494 114404778 - 6480464;8554872 11572484;12477932;14702039;15164054;15489334;15951569;16385451;16713569;17412687;18029348;20125193;20201926;21044950;21224076;21832049;22190283;22805860;22927913;22928011;23527086;24387290;24581082 84632 B7Z2Q0;F6QUH3;Q8N4X5 AB067501;ABBA01062978;ABBA01062979;ABBA01062980;AC005383;AF474151;AK123108;AK291712;AK294969;AK295538;AL133384;AL355302;AMYH02023850;AMYH02023851;AMYH02023852;BC016403;BC024314;BC033212;BC035713;CH471066;NM_001001936;NM_001287824;NM_032550;XM_005270233;XM_005270237;XM_005270239;XM_005270240;XM_005270241;XM_005270242;XM_006718036;XM_006718037;XM_006718038;XM_006718039;XM_006718040;XM_006718041;XM_006718042 AAH24314;AAH33212;AAQ05765;BAB67807;BAF84401;BAG53870;BAH11936;BAH12099;EAW49470;EAW49471;EAW49472;EAW49473;EAW49474;NP_001001936;NP_001274753;NP_115939;Q8N4X5;XP_005270290;XP_005270294;XP_005270296;XP_005270297;XP_005270298;XP_005270299;XP_006718099;XP_006718100;XP_006718101;XP_006718102;XP_006718103;XP_006718104;XP_006718105 Hs.501106 1338820;1339202;1681869;1697352;2113084;2171025 D10S1237;D10S1563;D10S1681;D10S2451;RH102174;RH91184 CTB-1144G6.4;FLJ14564;KIAA1914;XB130 AFAP1-like protein 2;OTTHUMP00000020527;OTTHUMP00000020528;actin filament-associated protein 1-like 2 protein-coding ENSG00000169129 HGNC:25901 13902 612420 VALIDATED 1317426 AFF1 AF4/FMR2 family, member 1 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN positive regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Abnormality of blood and blood-forming tissues (inferred); Abnormality of metabolism/homeostasis (inferred); Autosomal dominant inheritance (inferred); FOUND IN transcription elongation factor complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; arsane 4 4 4 q21 85145587 85351225 + 87855758 88062206 + 86934606 87141054 + 1580863;6480464;8699517;8554872 10671636;11236948;11930009;12477932;1423625;14562113;14603337;14990976;15221006;15231748;15302935;15856011;16169901;16215946;16386788;16433901;16551973;17130830;17301807;17581865;17889710;18977325;19913121;19956800;20153263;20379614;20431927;20471949;20628086;20686565;20854876;20864672;21030982;21135858;21139048;21706045;21729782;21896721;21963094;22190034;22291604;22337994;22355797;22567366;22983539;23260655;23455922;23479570;23518577;23535033;23568457;23602568;24097068;24189350;24367103;7689231;8353274;8443374;8506309;8769569;9233580;9326653;9389682;9880680 4299 D6RAU0;D6RIZ5;E7EMC5;E7ETI4;F5GXF9;H0Y9S4;P51825;Q14C88 ABBA01063515;ABBA01063516;ABBA01063517;ABBA01063518;ABBA01063519;ABBA01063520;ABBA01063521;ABBA01063522;AC092658;AC093779;AC093827;AF024541;AF177236;AF177237;AF177238;AF177239;AJ238093;AK296149;AK296243;AK300364;AMYH02009663;AMYH02009664;AMYH02009665;AMYH02009666;BC017432;BC114930;CH471057;DC340279;L13743;L13773;L25050;NM_001166693;NM_005935;X83606;XM_005263007;XM_005263008;XM_005263009;XM_005263010;XM_005263011;XM_005263012;XM_005263013;Z83689 AAA36642;AAA58360;AAC51815;AAD56887;AAD56888;AAF09191;AAF09192;AAH17432;AAI14931;AAY40899;BAG58888;BAG58961;BAG62103;CAA58585;CAB52416;CAB69660;EAX05978;EAX05979;EAX05980;NP_001160165;NP_005926;P51825;XP_005263064;XP_005263065;XP_005263066;XP_005263067;XP_005263068;XP_005263069;XP_005263070 Hs.480190 1646180;1654918;1655517;1662462;1665281;1666071;1721525;1722611;1726975;1769569;1776920;1797156;1847367;2119385;2123407;2124581;2129685;2155035;2155345;2155347;2157120;2159943;2163266;2163268;2167529;2168468;2168544;2168763;2173505;2176816;2176936;2179691;2180487;2186419;5093302;5094382 A005C26;A009L09;D4S2815;G15939;G20273;G32639;G33553;G34498;G54645;G59617;G60389;G62734;MLLT2;RH36599;RH36611;RH70012;RH70771;SHGC-24811;SHGC-24815;SHGC-31229;SHGC-35046;SHGC-37108;SHGC-50346;SHGC-50561;SHGC-53296;SHGC-59250;SHGC-59252;SHGC-59260;SHGC-59691;SHGC-59856;SHGC-67605;SHGC-67615;SHGC-67793;SHGC-67822;STS-AA017260;WI-12383 AF-4;AF4;AF4-MLL;MGC134969;MLL/AF4;MLLT2;PBM1 AF4/FMR2 family member 1;ALL1-fused gene from chromosome 4 protein;OTTHUMP00000161178;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila);myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila), translocated to, 2;pre-B-cell monocytic leukemia partner 1;proto-oncogene AF4;translocated to, 2 protein-coding ENSG00000172493 HGNC:7135 08871 159557 VALIDATED 1318349 AFF3 AF4/FMR2 family, member 3 This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q11.2-q12 94368402 94963584 - 100162326 100759037 - 99545864 100142575 - 1580863;6480464;8554872 12203795;12477932;12743608;14702039;15146197;15489334;15704140;15815621;17554260;18029348;18616733;18622426;19240061;19359276;20072139;20219786;20379614;20431927;20444755;20453842;20498205;20854876;21330300;22983539;23028342;23455922;23602568;24390342;8555498;8662235;8889548 3899 C9J622;C9J847;C9JC67;C9JIB1;C9JMS1;C9JUC4;C9JUY1;C9JZ66;H7C3W3;H7C4C2;P51826;Q8NAP7 AB209634;ABBA01073935;ABBA01073936;ABBA01073937;ABBA01073938;ABBA01073939;ABBA01073940;ABBA01073941;ABBA01073942;ABBA01073943;AC010736;AC018690;AC073118;AC092667;AC093373;AC114793;AC133108;AK055117;AK091320;AK092327;AK290468;AK297407;AK308645;AMYH02004405;AMYH02004406;AMYH02004407;AMYH02004408;AMYH02004409;AMYH02004410;AMYH02004411;AMYH02004412;AMYH02004413;BC021283;BC036895;BC136579;BC144266;BI906088;BU740375;CH471127;CN409428;KF456685;NM_001025108;NM_002285;U34360;XM_005263942;XM_005263943;XM_005263945;XM_006712523 AAA98763;AAH36895;AAI36580;AAI44267;AAY14792;AAY24187;AAY24278;AAY24315;BAC03864;BAD92871;BAF83157;BAH12572;EAX01854;EAX01855;EAX01856;EAX01857;EAX01858;EAX01859;NP_001020279;NP_002276;P51826;XP_005263999;XP_005264000;XP_005264002;XP_006712586 Hs.444414 1667874;1668112;1701610;1716281;1719991;1723835;1724161;1734930;1760037;1852193;2132429;2142742;2145727;2148837;2149568;2153899;2163548;2168799;2170981;2174022;2174670;5016478;5092914;5093684 A006S04;A009C10;A009U47;D2S1633E;D2S1695E;D2S1821;D2S1992;D2S2710;D2S2744;G16333;G16393;G32409;G32863;GDB:434012;RH104445;RH118653;RH121169;RH121214;RH123972;RH12868;RH18039;RH69575;SHGC-82826;WI-17152 LAF4;MLLT2-like AF4/FMR2 family member 3;MLLT2-related protein;OTTHUMP00000202880;OTTHUMP00000202881;lymphoid nuclear protein 4;lymphoid nuclear protein related to AF4;protein LAF-4 APPROVED protein-coding ENSG00000144218 HGNC:6473 03272 601464 REVIEWED 1343236 AFF2 AF4/FMR2 family, member 2 This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2009] X X X q28 147930060 148430864 + 147582139 148082193 + 148500619 149000663 + 1580863;6480464;7240710;8699517;8554872 10196698;10528856;10737800;10780779;10850542;10964075;11119302;11355014;12477932;12777533;1301146;15772651;17196195;17474147;18029348;19136466;19460752;20734064;21254876;21330300;21739600;22065534;22773736;23562910;7541938;7783162;8023854;8334699;8651274;8673085;8673086;8824884;8900249;9032643;9147647;9299237;9341861;9467002;9475603 2334 F8W6J4;P51816 AB101711;AB101712;AB101713;AB101714;AB101715;AB101716;AB101717;AB101718;AB101719;AB101720;AB101721;AB101722;AB101723;AB101724;AB101725;AB101726;AB101727;AB101728;AB101729;AB101730;AB102644;ABBA01049704;ABBA01049705;ABBA01049706;ABBA01049707;ABBA01049708;ABBA01049709;ABBA01049710;ABBA01049711;ABBA01049712;ABBA01049713;ABBA01049714;ABBA01049715;ABBA01049716;ABBA01049717;ABBA01049718;ABBA01049719;ABBA01049720;ABBA01049721;ABBA01049722;ABBA01049723;ABBA01049724;ABBA01049725;ABBA01049726;ABBA01049727;ABBA01049728;ABBA01049729;ABBA01049730;ABBA01049731;ABBA01049732;ABBA01049733;ABBA01049734;ABBA01049735;ABBA01049736;ABBA01049737;ABBA01049738;ABBA01049739;ABBA01049740;ABBA01049741;ABBA01049742;ABBA01049743;ABBA01049744;ABBA01049745;ABBA01049746;ABBA01049747;ABBA01049748;ABBA01049749;ABBA01049750;ABBA01049751;ABBA01049752;ABBA01049753;AC002368;AC005731;AC006516;AC015552;AC231841;AF012624;AJ001550;AK301927;AK311467;AMYH02040751;AMYH02040752;AMYH02040753;AMYH02040754;AMYH02040755;AMYH02040756;BC132683;BC143740;BC143744;BI030785;CH471171;KF459474;KF459475;KF459476;KF459480;KF459484;KF510170;KF510172;L76569;NG_016313;NM_001169122;NM_001169123;NM_001169124;NM_001169125;NM_001170628;NM_002025;U48436;X95463 AAA99416;AAB71534;AAC82513;AAI32684;AAI43741;AAI43745;BAC80300;BAC80301;BAC80302;BAC80303;BAC80304;BAC80305;BAC80306;BAC80307;BAC80308;BAC80309;BAC80310;BAC80311;BAC80312;BAC80313;BAC80314;BAC80315;BAC80316;BAC80317;BAC80318;BAC80319;BAC81113;BAG63347;CAA04822;CAA64730;EAW61286;EAW61287;EAW61288;EAW61289;NP_001162593;NP_001162594;NP_001162595;NP_001162596;NP_001164099;NP_002016;P51816 Hs.496911 1340760;1645732;1664678;1667249;1689157;1702246;1702254;1702276;1714889;1715173;1732209;1733496;1742915;1776981;1789703;1789705;2115025;2136895;2136915;2171127;2173866;2175552;5095082 AFF2;AFM323YF1;DXS1318;DXS1691;DXS6687;DXS6729;DXS7394;DXS7812;DXS8091;DXS8272;DXS8273;GDB:215331;RH119837;RH120439;RH18451;RH45213;RH66769;RH70649;SHGC-7435;UniSTS:99231;WI-14955;Xq4086;Xq4087 FMR2;FMR2P;MRX2;OX19 AF4/FMR2 family member 2;FRAXE;OTTHUMP00000024204;OTTHUMP00000024206;fragile X E mental retardation syndrome protein;fragile X mental retardation 2 protein;protein FMR-2 APPROVED protein-coding ENSG00000155966 HGNC:3776 02397 300806;309548 REVIEWED 1601873 AFF4 AF4/FMR2 family, member 4 The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011] 5 5 5 q31 128341097 128429374 - 132211071 132299354 - 132875379 132963662 - 6480464 10588740;11355014;12065898;12477932;14702039;15489334;15856011;16189514;16344560;17081983;17389929;17643375;18029348;20153263;20159561;20379614;20431927;20471948;20471949;20854876;21139048;21242887;21330300;21360054;21729782;21873227;21906983;21963094;22094252;22190034;22355797;22483617;22567366;22779921;22952844;23000965;23087374;23251033;23455922;23471103;23518577;23602568;24163370;24816145 27125 C9JCE0;H7C319;Q9UHB7 AA706988;AB209547;ABBA01068790;ABBA01068791;ABBA01068792;ABBA01068793;ABBA01068794;AC004500;AC010240;AF161355;AF173886;AF197927;AF213987;AK024831;AK055638;AK126818;AK307407;AMYH02012220;BC025700;BC040454;BC063007;BC100287;BC137226;BC144538;BX537585;CH471062;DA934874;NG_030340;NM_014423;XM_005271963;XM_005271964;XM_006714587 AAF18981;AAF28915;AAH25700;AAH63007;AAI00288;AAI37227;AAM00184;AAQ13633;BAD92784;EAW62301;EAW62302;EAW62303;EAW62304;EAW62305;NP_055238;Q9UHB7;XP_005272020;XP_005272021;XP_006714650 Hs.519313;Hs.664840 1648298;1656168;1780506;1798570;1799244;1799342;1800848;1801428;1801700;1802524;1803702;1805842;1806688;1807492;1808938;1810328;1810914;1812502;1813074;1815868;1816448;1816616;1818068;1820836;1821638;1824006;1824166;1824870;1826494;1828756;1831600;1833182;1837188;1840052;1841674;1841916;1844574;2002280;2002282;2002284;2002286;2002288;2002290;2002292;2002294;2002296;2002298;2096592;2096594;2096596;2096598;2096600;2096602;2096604;2096606;2096608;2096610;2096612;2096614;2096616;2096618;2096620;2096622;2096624;2096626;2096628;2096630;2096632;2096634;2096636;2096638;2096640;2096642;2096644;2096646;2096648;2131364;2131464;2169635;2191249;2218196 AF5Q31__4262;ECD00124;ECD00470;ECD00520;ECD01287;ECD01588;ECD01729;ECD02148;ECD02757;ECD03872;ECD04301;ECD04718;ECD05452;ECD06156;ECD06455;ECD07258;ECD07556;ECD08974;ECD09266;ECD09350;ECD10090;ECD11494;ECD11905;ECD13099;ECD13179;ECD13534;ECD14361;ECD15505;ECD16937;ECD17733;ECD19760;ECD21210;ECD22034;ECD22160;ECD23501;MARC_16763-16764:1020874272:1;REN72052;REN72053;REN72054;REN72055;REN72056;REN72057;REN72058;REN72059;REN72060;REN72061;RH68797;SGC32016;SGC35217;STS-T96380;WI-18406;bac5076S;stSG601591;stSG601592;stSG601593;stSG601594;stSG601595;stSG601596;stSG601597;stSG601599;stSG601600;stSG601601;stSG601602;stSG601603;stSG601604;stSG601605;stSG601606;stSG601607;stSG601608;stSG601609;stSG601610;stSG601611;stSG601612;stSG601613;stSG601614;stSG601615;stSG601616;stSG601617;stSG601618;stSG601619;stSG601621 AF5Q31;MCEF;MGC75036 AF4/FMR2 family member 4;ALL1 fused gene from 5q31;ALL1-fused gene from chromosome 5q31 protein;OTTHUMP00000066209;major CDK9 elongation factor-associated protein APPROVED protein-coding ENSG00000072364 HGNC:17869 09187 604417 REVIEWED 1605642 AFAP1 actin filament associated protein 1 The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 4 4 4 p16 7662306 7842025 - 7760440 7941653 - 7758713 7939926 - 6480464 10666339;11607843;11641786;12134071;12477932;14755689;15146197;15345747;16344560;16751776;17520695;18029348;21150319;23333711;7545969;9619827;9655255 60312 Q6ZRV0;Q8N556 AB209676;ABBA01008682;ABBA01008683;ABBA01008684;ABBA01012755;AC004169;AC097381;AC112254;AC141931;AC144451;AF188700;AK127962;AK290807;AK297631;AL706541;AMYH02008687;AMYH02008688;AMYH02008689;AMYH02008690;AMYH02008691;AMYH02008692;BC015900;BC032777;BI561136;CA448961;CH471131;CN308844;D25248;DA605903;DB450895;DQ585763;NM_001134647;NM_198595;XM_006713908;XM_006713909;XM_006713910 AAG17055;AAH32777;BAC87209;BAD92913;BAF83496;BAG60004;EAW82360;NP_001128119;NP_940997;Q8N556;XP_006713971;XP_006713972;XP_006713973 Hs.529369 1658864;1668337;1674828;1693772;1716561;1755581;1766025;1785122;1851015;2110173;2116765;2133890;2137579;2145900;2145902;2149014;2153300;2182543;2189123 A005T26;D4S2836;D4S2855;D4S3273;D4S540;G01837;G01905;G20482;G34271;G65147;RH121625;SHGC-142434;SHGC-149413;SHGC-155347;SHGC-58846;SHGC-67377;SHGC-67801;SHGC-67969;st84j12-8d10 AFAP;AFAP-110;AFAP110;FLJ56849 110 kDa actin filament-associated protein;OTTHUMP00000155170;OTTHUMP00000217364;actin filament-associated protein 1;actin filament-associated protein, 110 kDa APPROVED protein-coding ENSG00000196526 HGNC:24017 09747 608252 REVIEWED 1345129 AFG3L1P AFG3-like AAA ATPase 1, pseudogene INTERACTS WITH atrazine; copper(2+) sulfate; fonofos 16 16 16 q24.3 75104531 75132803 + 90038988 90067195 + 89972580 90000787 + 1580863;6480464 11549317;12477932;14702039;16344560;17101804;19578364;21555518;21832049;9545647 172 ABBA01014117;ABBA01014118;ABBA01014119;AC092143;AF329691;AF329692;AF329693;AF329694;AJ001495;AJ001496;AK056488;AK090856;AK091293;AK091727;AK097044;AK126911;AK127143;AK128352;AK128804;AL832984;AMYH02032689;AMYH02032690;BC021245;BC045753;BC077734;BM986843;DA707802;DB318727;KF459805;NR_003226;NR_003227;NR_003228 BAC04933;BAC86848;BAG51729;BAG52327;BAG54393;CAA04792;CAA04793;CAH56313 Hs.534773 5022578;5037552 D1S1423;D8S2279 AFG3;AFG3L1;FLJ45200 afg3 atpase family gene 3-like 1 (yeast) APPROVED pseudo ENSG00000223959 HGNC:314 04315 603020 VALIDATED 1313183 AFG3L2 AFG3-like AAA ATPase 2 This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008] 18 18 18 p11 12209592 12258040 - 12328943 12377275 - 12328944 12377276 - 1580863;6480464;7240710;8554872;8699517 10395799;12477932;14623864;15489334;16169070;16251216;18029348;18769991;18854154;19615732;19748354;20186120;20208537;20301317;20354562;20562859;20725928;20877624;21080425;21139048;21595125;21827917;21832049;21890473;21900206;22022284;22252130;22268729;23000965;23602568;24250222;24457600;24814845;24816145;25027693 10939 K7EP56;Q8TA92;Q9Y4W6 ABBA01074016;AK129504;AMYH02034327;AMYH02034328;AMYH02034329;AP001029;AP005264;BC024282;BC065016;BU786821;BX091241;CH471113;DN993083;NG_023361;NM_006796;Y18314 AAH24282;AAH65016;CAB48398;EAX01551;EAX01552;NP_006787;Q9Y4W6 Hs.726355 1676360;1703260;1734546;2117610;2158833;2179779 D18S902E;RH104597;RH65391;RH75493;SHGC-36229;STS-N21031 FLJ25993;SCA28;SPAX5 AFG3 (ATPase family gene 3, yeast)-like 2;AFG3 ATPase family gene 3-like 2;AFG3 ATPase family member 3-like 2;AFG3-like protein 2;ATPase family gene 3, yeast;ATPase family gene 3-like 2;OTTHUMP00000162476;paraplegin-like protein;spinocerebellar ataxia 28 APPROVED protein-coding ENSG00000141385 HGNC:315 05205 604581;610246;614487 REVIEWED 1606470 AFMID arylformamidase ENCODES a protein that exhibits arylformamidase activity (inferred); hydrolase activity (inferred); INVOLVED IN 'de novo' NAD biosynthetic process from tryptophan (inferred); cellular nitrogen compound metabolic process (inferred); metabolic process (inferred); PARTICIPATES IN glyoxylate and dicarboxylate metabolic pathway; tryptophan metabolic pathway; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 17 17 17 q25.3 72779839 72799987 + 76183398 76203782 + 78185159 78207701 + 6480464;6907045 12477932;14704851;19322201;21048031 125061 K7EIX3;K7EK09;K7ELV9;K7EMI4;K7EMM5;K7EPF8;K7EQK5;Q63HM1;W4VSQ7 ABBA01002939;ABBA01002940;ABBA01002941;AC021593;AC087645;AMYH02034048;AMYH02034049;AMYH02034050;BC020920;BC132824;BC142973;BX648442;CH471099;NM_001010982;NM_001145526;NR_027083;XM_006721696;XM_006721697;XM_006721698;XM_006721699;XM_006721700 AAI32825;AAI42974;ACE86948;ACE87637;ADR82911;CAH56149;EAW89509;EAW89510;NP_001010982;NP_001138998;Q63HM1;XP_006721759;XP_006721760;XP_006721761;XP_006721762;XP_006721763 Hs.558614 1741169;1791804;5022200;5037552 D8S2279;GDB:178395;L18426;PMC126057P2 DKFZp686F03259;FKF;KF;KFA;MGC167063 KFase;N-formylkynurenine formamidase;OTTHUMP00000204722;OTTHUMP00000204725;kynurenine formamidase;probable arylformamidase protein-coding ENSG00000183077 HGNC:20910 16478 VALIDATED 1352528 AFM afamin This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 71707194 71729436 + 74347462 74369718 + 73481740 73504001 + 1580863;6480464;8554872 10400926;12063119;12463752;12477932;14760718;15489334;15952736;16199891;16335952;16740002;18976975;19046407;19336561;20858448;23535732;37276;4041902;7035619;7517938;7875606;8648639;8755513 173 P43652 ABBA01022992;AC108157;AC110752;AK290556;AMYH02009466;BC109020;BC109021;CH471057;L35486;L35497;L35498;NM_001133;U51243;XM_006714122 AAA68197;AAA68198;AAA68199;AAC50720;AAI09021;AAI09022;AAY41051;BAF83245;EAX05682;NP_001124;P43652;XP_006714185 Hs.168718 1340356;1678827;1794040;2142699;2163556 D4S1517;PMC310762P7;RH94242;SHGC-59867;STS-L32140 ALB2;ALBA;ALF;MGC125338;MGC125339 OTTHUMP00000160471;alpha-Alb;alpha-albumin APPROVED protein-coding ENSG00000079557 HGNC:316 00073 104145 REVIEWED 1319477 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 2 2 2 q37 230115921 230747258 + 236402733 237040444 + 235494089 236131800 + 1580863;6480464;6907045;8554872 10470851;12388557;12477932;12640130;12967569;14702039;15381706;15892143;16079295;16341674;16751776;18003747;18954304;21832049;21900206;21926974;22453919;22688191;23667675;24722188 116987 B2RZG9;C9J8Z2;E7EUN2;F5GXM9;H7C0A7;H7C211;Q9UPQ3;X5D293 AB029022;ABBA01042565;ABBA01042566;ABBA01042567;ABBA01042568;ABBA01042569;AC012305;AC019047;AC064874;AC073989;AC079400;AF413078;AK001722;AK295520;AK300763;AMYH02006040;AMYH02006041;AMYH02006042;AMYH02006043;AMYH02006044;AMYH02006045;AMYH02006046;AMYH02006047;AMYH02006048;AMYH02006049;AMYH02006050;AMYH02006051;AY033765;BC060814;BC140856;BC167153;BC167157;BI868924;BM752978;CA446024;CB961699;CH471063;KJ534764;NG_030314;NM_001037131;NM_001244888;NM_014914;XM_005246058;XM_005246059;XM_006712234;XM_006712235;XM_006712236;XM_006712237;XM_006712238;XM_006712239;XM_006712240;XM_006712241 AAH60814;AAI40857;AAI67153;AAI67157;AAK56506;AAL04172;AAX88852;AAX88857;AAY14697;AAY24137;AHW56404;BAA83051;BAA91862;BAG58435;BAG62428;EAW71078;EAW71079;NP_001032208;NP_001231817;NP_055729;Q9UPQ3;XP_005246115;XP_005246116;XP_006712297;XP_006712298;XP_006712299;XP_006712300;XP_006712301;XP_006712302;XP_006712303;XP_006712304 Hs.435039 1335150;1335418;1659393;1665186;1667599;1668592;1681424;1689336;1697674;1706910;1714021;1717455;1721567;1727871;1757111;1762171;1762275;1765605;1771063;1783872;1784066;1784130;1784222;2117866;2156836;2166680;5093548;5094212;5127221 A009Q29;D2S1397;D2S1421;D2S2202;FB3D10;G32783;G33173;G54615;G59791;G63736;RH102352;RH119441;RH122231;RH12556;RH44862;RH48088;RH91277;SHGC-102168;SHGC-144496;SHGC-146059;SHGC-146098;SHGC-146130;SHGC-149056;SHGC-154430;SHGC-155949;SHGC-31743;SHGC-80943;STS-T94735;WI-22093 AGAP-1;CENTG2;GGAP1;KIAA1099;MGC71657;cnt-g2 Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1;GTP-binding and GTPase-activating protein 1;OTTHUMP00000164398;OTTHUMP00000164399;OTTHUMP00000203179;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1;centaurin, gamma 2;centaurin-gamma-2 APPROVED protein-coding ENSG00000157985 HGNC:16922 16359 608651 REVIEWED 5132512 AGAP1-IT1 AGAP1 intronic transcript 1 (non-protein coding) 2 2 q37.2 236413770 236416210 + 235505126 235507566 + 100506749 ABBA01042561;AC012305;AMYH02006041;BX111890;XR_108380;XR_133330;XR_171354 Hs.684184 ncrna HGNC:41427 MODEL 1320096 AGA aspartylglucosaminidase Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2010] 4 4 4 q34.3 175679083 175690820 - 178351928 178363657 - 177430774 177442503 - 1598773;1580863;6480464;7240710;8554872;8699517 1703489 10444340;11309371;12477932;1281977;1301945;14616088;15174051;1530592;15365992;15489334;15815621;16344560;16435229;1733831;1737774;1765378;18029348;1840528;1864600;18992224;1904874;19100247;2011603;2039475;21854356;22268729;2265705;23698163;24009623;2401370;2775174;6883788;7685790;7852406;8002961;8405810;8457202;8702913;8776587;8830180;8846222;8889548;9137882;9362483;9737998 175 H0Y8L9;H0Y9C7;P20933 AA490958;ABBA01070426;AC027627;AC078881;AK303370;AK312982;AMYH02010565;AW467768;BC012392;BM968469;CH471056;CR541715;CX869892;DA346002;DA905583;M60808;M60809;M64073;M64075;M64076;M83247;NG_011845;NM_000027;NM_001171988;NR_033655;S83096;U21273;U21274;U21275;U21276;U21277;U21278;U21279;U21280;U21281;X55762;X61959;X73071;XM_006714123 AAA35901;AAA35902;AAA35903;AAA35904;AAA35905;AAA36215;AAB60655;AAD14424;AAH12392;AAY40915;ABM82279;ABM85460;BAG35819;BAG64427;CAA39288;CAA43958;CAA51529;CAG46516;EAX04712;EAX04713;EAX04714;EAX04715;NP_000018;NP_001165459;P20933;XP_006714186 Hs.207776 1670048;1745417;1745425;1745427;1745429;1745433;1745435;1745437;2122105;5016570;5117805 D4S3226;GDB:607621;GDB:607635;GDB:607636;GDB:607637;GDB:607638;GDB:607643;GDB:607646;GDB:607647;GDB:607648;STS-X55330 AGU;ASRG;GA N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase;N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase;OTTHUMP00000218812;aspartylglucosylamine deaspartylase;glycosylasparaginase APPROVED protein-coding ENSG00000038002 HGNC:318 01949 208400;613228 REVIEWED 736278 AFP alpha-fetoprotein This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 71661745 71681240 + 74301933 74321492 + 73436219 73455785 + 1300268;1580863;2292039;2292042;2292040;2292037;2292041;2292038;6480464;6484113;8699517;7240710 12297623;1714107;17525908;17659325;17932343;18203521;68943 11764100;11788893;11861398;12006569;12167706;12176010;12361680;12477932;12499776;12503217;12615827;12804197;12835590;1371512;14622304;14714299;15001643;15028291;15040024;15265907;15280901;15305374;15489334;15849812;15906357;15993394;16169070;16203738;16627685;16869888;16882993;16892178;1703124;1709810;17175353;17175354;17188819;17197899;17237442;17275497;17433605;17465484;17535089;17626741;17852813;18184471;18194454;18316609;18354237;18407604;18422961;18466288;18479159;18485897;18551609;18563566;18577995;18609108;18657899;18802946;19003875;19038010;19093203;19160651;19184104;19197197;19206006;19225928;19241193;19343004;19362088;19383238;19426602;19437037;19457604;19494365;19501957;19574883;19593583;19615732;19785658;19968979;20070666;20101856;20149523;20363333;20414942;20495646;20532728;20571936;20740583;20796153;21059290;21083609;21083802;21155886;21169258;21170957;21235824;21301972;21312197;21365646;21411977;21438004;21592114;21745284;21793906;21952001;21965270;21988832;22116493;22147961;22150277;22152641;22233759;22252180;22294840;22362471;22366528;22391642;22469729;22471500;22472323;22521346;22524824;22535689;22559879;22561245;22672818;22709874;22935208;23020232;23038230;23169148;23282286;23300138;23322323;23342486;23395581;23421992;23535732;23548745;23555170;23558072;23615710;23622526;23743582;23763371;23886200;23895043;24065238;24106406;24123097;2414772;24190142;24299318;24354994;2436661;24425104;2445387;24455683;24634927;2474300;2580830;4138095;6085063;6187626;6192439;6192711;6193792;70228;71198;7519015;7524678;7532927;7684942;80265;89900;9891062 174 J3KMX3;P02771 ABBA01022991;AC108157;AI336986;AK297669;AK297674;AK314817;AMYH02009464;BC027881;CH471057;M10949;M10950;M16110;NG_023028;NM_001134;V01514;Z19532 AAA51674;AAA51675;AAB58754;AAH27881;ABM81868;ABM85029;BAG37340;BAG60031;BAG60036;CAA24758;CAA79592;EAX05681;NP_001125;P02771 Hs.518808 1666324;1760057;1772963;2119459;2126442;2189369;5491493 D4S3144;MARC_15793-15794:1013620256:1;MARC_3052-3053:991936680:1;SHGC-107546;SHGC-50928;SHGC-59540;SHGC-67270 AFPD;FETA;HPAFP OTTHUMP00000160480;OTTHUMP00000220440;alpha-1-fetoprotein;alpha-fetoglobulin APPROVED protein-coding ENSG00000081051 HGNC:317 00074 104150;615969;615970 REVIEWED 1606558 AFTPH aftiphilin ENCODES a protein that exhibits clathrin binding; INVOLVED IN protein transport (inferred); FOUND IN AP-1 adaptor complex; cytosol; INTERACTS WITH 1-nitropyrene; all-trans-retinoic acid; arsenous acid 2 2 2 p14 64597630 64666332 + 64751439 64820139 + 64524305 64593005 + 6480464 12477932;14665628;14702039;15302935;15489334;15758025;15811338;16344560;16964243;18029348;18815278;21900206;21988832;22990118;23000965;24250222;8125298;8889548 54812 B8ZZI9;Q53GW0;Q6ULP2 AA583062;AB073356;ABBA01075420;ABBA01075421;ABBA01075422;AC008074;AK000087;AK021899;AK024658;AK222821;AL833962;AMYH02003966;AMYH02003967;AY367088;BC022247;BC047529;BM668634;BX504505;CH471053;DA227019;DA815479;NM_001002243;NM_017657;NM_203437;XM_005264380;XR_244940;XR_244941 AAH22247;AAH47529;AAR14726;BAA90936;BAB13930;BAB14949;BAD96541;BAE45715;CAE46209;EAW99937;EAW99938;EAW99939;EAW99940;EAW99941;NP_001002243;NP_060127;NP_982261;Q6ULP2;XP_005264437 Hs.655167 1661358;1755355;1777096;1853950 A002Y40;A007I10;SHGC-142239;STS-AA034034 FLJ20080;FLJ23793;MGC33965;Nbla10388 OTTHUMP00000159936;OTTHUMP00000202186;OTTHUMP00000202187;aftiphilin protein;putative protein product of Nbla10388 protein-coding ENSG00000119844 HGNC:25951 10635 VALIDATED 3457950 AFG3L2P1 AFG3-like AAA ATPase 2 pseudogene 1 8 8 8 p11.1 42052060 42076817 - 43102346 43127103 - 43247203 43271960 - 347028 ABBA01021196;AC022616;AMYH02017915;NG_016585 AFG3L2P APPROVED pseudo HGNC:24169 INFERRED 1349982 AGAP10 ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); C60 fullerene (ortholog) 10 q11.22 47191765 47214915 - 6480464 728127 C9JUY9;Q5T2P9 ABBA01050038;ABBA01050039;AL391137;XM_006709937 CAI12206;Q5T2P9;XP_006710000 5111612;5113574;5124150 RH36848;RH40305;RH44360 CTGLF7;bA144G6.2 OTTHUMP00000019523;centaurin, gamma-like family, member 7 protein-coding HGNC:23462 MODEL 2301267 AGAP11 ankyrin repeat and GTPase domain Arf GTPase activating protein 11 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); ciguatoxin CTX1B (ortholog) 10 10 10 q23.2 82733499 82772961 + 88728239 88769960 + 86970741 87010203 + 6480464;8554872 11853319;12477932;14702039;16751776 119385 Q6P5Q0;Q8TF27 AB075855;ABBA01033689;AK097165;AL136982;AMYH02023488;AMYH02023489;BC140762;CH471142;NM_133447 AAI40763;BAB85561;EAW80307;EAW80308;EAW80310;EAW80311;NP_597704;Q8TF27 Hs.511787 1681195;1778252;2184780;5111612;5113574;5124150 RH36848;RH40305;RH44360;RH44865;RH68273;RH93785 KIAA1975 AGAP-11;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11 protein-coding HGNC:29421 VALIDATED 7244932 AGAP2-AS1 AGAP2 antisense RNA 1 12 12 12 q14.1 57777616 57779732 + 58120023 58122139 + 57726240 57728356 + 11181995;12477932;15146197 100130776 B7Z718 ABBA01026694;AC025165;AK301303;AMYH02026593;BC019026;BC039697;BC069024;CH471054;CN313469;NG_029755;NR_027032 BAH13454;EAW97052;EAW97053 Hs.656080 1645478;2168223 RH25384;STS-AA011041 ncrna ENSG00000255737 HGNC:48633 VALIDATED 1321839 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); GTP binding (inferred); GTPase activity (inferred); INVOLVED IN cellular response to reactive oxygen species (inferred); GTP catabolic process (inferred); positive regulation of GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell periphery (inferred); cytoplasm (inferred); intracellular (inferred); INTERACTS WITH 5-fluorouracil; calcitriol; kojic acid 7 7 7 q36.1 145341154 145398859 + 150782918 150841523 + 151085831 151144436 + 1580863;6480464;8554872 12477932;12640130;12690205;14506264;14702039;15381706;16344560;16461359;16964243;21139048;21890473;21906983;23904596;24255178 116988 C9J975;E7ESL9;H0Y873;H7C4F1;H7C4U6;H7C5G0;Q86ST5;Q86XV5;Q96P47 AACC02000108;AB209781;ABBA01035163;ABBA01035164;ABBA01035165;ABBA01035166;AC010973;AF359283;AF413079;AK027415;AK055393;AK091771;AK096352;AL442089;AMYH02017068;AMYH02017069;AMYH02017070;BC020426;BC037543;BC044644;BC048300;BC069236;BU615528;CH471173;DA771207;NM_001042535;NM_001281300;NM_031946;XM_005249942;XM_005249943;XM_006715849 AAH44644;AAH48300;AAK48932;AAL04173;ACE86452;ACE87128;BAB55097;BAC04766;BAD93018;BAG51510;CAC09448;EAL24502;EAW54024;EAW54025;EAW54026;EAW54027;EAW54028;EAW54029;NP_001036000;NP_001268229;NP_114152;Q96P47;XP_005249999;XP_005250000;XP_006715912 Hs.647075 1666204;1852490;2145843;2191003 AF021133;GDB:4585228;MARC_12833-12834:1000491720:1;RH66056 AGAP-3;CENTG3;CRAG;FLJ16146;FLJ34452;MRIP-1;cnt-g3 CRAM-associated GTPase;CRMP (collapsin response mediator protein) associated;MR1-interacting protein;OTTHUMP00000213333;OTTHUMP00000213334;OTTHUMP00000213335;OTTHUMP00000213336;OTTHUMP00000213337;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3;centaurin, gamma 3;centaurin-gamma-3 protein-coding ENSG00000133612 HGNC:16923 16707 VALIDATED 1349110 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 12 q14.1 57776586 57793534 - 58117544 58135984 - 57723761 57742201 - 1580863;6480464;6907045;8554872 11136977;11823862;12388557;12477932;12640130;14528310;14702039;14761976;15118108;15489334;15951849;16079295;16150119;16263930;16344560;16841086;17037982;17151107;17297440;17461797;17891137;18029348;18187620;18371979;18374643;18469807;18487454;19176382;19318351;19946888;20368287;20551179;21460185;21833088;21847098;22349826;22389719;22505724;23438599;23527545;23770988;8724849;9192850 116986 F8VVT9;H0YHB1;J3KNM6;Q99490 ABBA01026694;AC025165;AF384128;AF413077;AK122827;AK292672;AMYH02026593;AV740795;AY128689;BC028020;BE280072;BI755875;CH471054;D79989;DB165417;NG_029755;NM_001122772;NM_014770;U81031;XM_005268625;XM_005268626;XR_245891 AAC39522;AAH28020;AAL04171;AAM97540;AAO39848;BAA11484;BAF85361;BAG53747;EAW97048;EAW97049;EAW97050;EAW97051;NP_001116244;NP_055585;Q99490;XP_005268682;XP_005268683 Hs.302435 1645478 RH25384 AGAP-2;CENTG1;FLJ16430;GGAP2;KIAA0167;PIKE;RP11-571M6.8;cnt-g1 Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 2;GTP-binding and GTPase activating protein 2;GTP-binding and GTPase-activating protein 2;OTTHUMP00000243437;OTTHUMP00000243438;OTTHUMP00000243439;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2;centaurin, gamma 1;centaurin-gamma-1;phosphatidylinositol 3-kinase enhancer;phosphatidylinositol-3-kinase enhancer;phosphoinositide 3-kinase enhancer APPROVED protein-coding ENSG00000135439 HGNC:16921 05687 605476 REVIEWED 1344826 AGAP4 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); INTERACTS WITH 17beta-estradiol; atrazine; cadmium atom 10 10 10 q11.22 42769421 42786619 - 46321040 46358501 - 45825592 45854808 - 737633;6480464 12477932 15164054;20139978;21248752;22990118 119016 K7ER91;Q96P64 AC012044;AC254107;AF411132;AL672187;AW089174;BC048341;BC062366;BC171833;CH471160;NM_001276343;NM_001291379;NM_133446;XM_005271797;XM_005271800;XM_006717619;XM_006717620;XM_006717621;XM_006717622 AAH48341;AAL10290;EAW86657;EAW86658;EAW86659;EAW86660;EAW86661;EAW86662;EAW86663;EAW86664;NP_001263272;NP_001278308;NP_597703;Q96P64;XP_005271854;XP_005271857;XP_006717682;XP_006717683;XP_006717684;XP_006717685 Hs.536192;Hs.656384 5111612;5113574;5124150 RH36848;RH40305;RH44360 AGAP-4;AGAP-8;AGAP8;CTGLF1;CTGLF5;MRIP2 ARF GTPase-activating protein;ArfGAP with GTPase domain, ankyrin repeat and PH domain 8;OTTHUMP00000019508;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 8;centaurin, gamma-like family, member 1;centaurin, gamma-like family, member 5;centaurin-gamma-like family member 1 protein-coding ENSG00000188234 HGNC:23459 16771 VALIDATED 1349976 AGAP6 ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); C60 fullerene (ortholog) 10 10 10 q11.23 42769418 42786891 - 51732867 51770259 + 49973136 50010499 + 6480464;8554872 12477932 414189 Q5VW22 AL442003;AMYH02023045;BC131545;NM_001077665;XM_005269836;XM_005269840;XM_005269841;XM_006717853;XM_006717854;XM_006717855;XM_006717856;XM_006717857;XM_006717858;XM_006717859 NP_001071133;Q5VW22;XP_005269893;XP_005269897;XP_005269898;XP_006717916;XP_006717917;XP_006717918;XP_006717919;XP_006717920;XP_006717921;XP_006717922 Hs.536158 5111612 RH36848 AGAP-6;CTGLF3;bA324H6.1 OTTHUMP00000019605;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6;centaurin, gamma-like family, member 3;centaurin-gamma-like family member 3 protein-coding ENSG00000204149 HGNC:23466 VALIDATED 1348213 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); INTERACTS WITH cadmium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 10 10 10 q22.2 68735106 68740871 - 75434033 75464357 - 73674275 73697796 - 6480464 12477932 729092 A6NIR3;J3KQL4;U3KQ60 AC022400;AC073389;AMYH02023338;NM_001144000 A6NIR3;NP_001137472 Hs.651147 5111612;5113574;5124150 RH36848;RH40305;RH44360 AGAP-5;CTGLF2 OTTHUMP00000019826;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5;centaurin, gamma-like family, member 2;centaurin-gamma-like family member 2 protein-coding ENSG00000172650 HGNC:23467 VALIDATED 1353426 AGAP7P ArfGAP with GTPase domain, ankyrin repeat and PH domain 7, pseudogene ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH asbestos; cadmium atom 10 10 10 q11.23 42769421 42786619 - 51464151 51486327 - 46109495 46131671 + 6480464;8554872 653268 Q5VUJ5 AL589822;AMYH02023029;AMYH02023030;NM_001077685 NP_001071153;Q5VUJ5 Hs.528346 AGAP-7;AGAP7;CTGLF4;bA109G10.1 OTTHUMP00000019595;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7 pseudogene;centaurin, gamma-like family, member 4;centaurin-gamma-like family member 4;putative Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7 APPROVED protein-coding HGNC:23465 PROVISIONAL 7244440 AGBL1-AS1 AGBL1 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 15 15 15 q25.3 63249739 63261861 - 86840064 86860199 - 86296833 86316968 - 8554872 22961001;23400010 727915 ABBA01052977;AC025842;AMYH02030977;AMYH02030978;CD359326;DB459014;DB524499;HG507365;NG_033836;NR_046012 Hs.451281 RP11-31E22.1 ncrna ENSG00000260125 HGNC:48617 VALIDATED 1344869 AGAP8 ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred) 10 10 q11.23 42172068 42193907 + 51224667 51262116 - 6480464 12477932 728404 Q5SRD3 AL672187;NM_001077686;NM_001276343;NM_001276344;XM_005270113;XM_005270114;XM_005270115;XM_005270116;XM_005270117;XM_005270118 NP_001071154;NP_001263272;NP_001263273;Q5SRD3;XP_005270170;XP_005270171;XP_005270172;XP_005270173;XP_005270174;XP_005270175 Hs.536192 1689109;1766243;1780476;5111612;5113574 RH36848;RH44360;RH68500;SHGC-149602;stbA746L15SP6 AGAP-8;CTGLF5 OTTHUMP00000019593;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 8;centaurin, gamma-like family, member 5;centaurin-gamma-like family member 5 protein-coding ENSG00000174194 HGNC:23464 VALIDATED 1348214 AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred) 10 10 q11.22 48215724 48237508 + 47501854 47523638 - 6480464 12477932;14702039 642517 Q5VTM2 ABBA01020313;ABBA01020314;AC245513;AK096908;AK160375;AL591684;BC020871;BC032492;BC171845;BC171847;NM_001190810 BAD18718;NP_001177739;Q5VTM2 Hs.645346;Hs.742298 5015881;5016478;5022651;5096328;5109663;5111612;5113574;5124150 D11S2921;D7S2067E;GDB:335751;GDB:434012;RH36848;RH40305;RH44360;WI-15534 AGAP-9;CTGLF6;FLJ00312;bA301J7.2 OTTHUMP00000019531;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9;centaurin, gamma-like family, member 6;centaurin-gamma-like family member 6 protein-coding ENSG00000204172 HGNC:23463 VALIDATED 6481033 AGBL4-IT1 AGBL4 intronic transcript 1 (non-protein coding) 1 p33 49374201 49472085 - 100874313 ABBA01050790;ABBA01050791;AL356916;AL445527;AMYH02000983;AW071649;HG492008;KF495943;NR_046839 Hs.551277 RP4-795A5.1 ncrna HGNC:41482 VALIDATED 1606202 AGBL4 ATP/GTP binding protein-like 4 ENCODES a protein that exhibits metallocarboxypeptidase activity (ortholog); tubulin binding (ortholog); INVOLVED IN C-terminal protein deglutamylation (ortholog); protein side chain deglutamylation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol (ortholog); INTERACTS WITH hydroquinone O-beta-D-glucopyranoside; kojic acid; lead(0) 1 1 1 p33 47284584 48775481 - 48998527 50489626 - 48532855 50023954 - 6480464;8554872 12477932;14702039;16710414;19240061;20379614;21074048 84871 B1AMW3;B1ANV5;B4DGK1;H0Y5X4;Q5VU57 ABBA01050789;ABBA01050790;ABBA01050791;ABBA01050792;ABBA01050793;ABBA01050794;ABBA01050795;ABBA01050796;ABBA01050797;ABBA01050798;ABBA01050799;ABBA01050800;AC092264;AC097062;AC099788;AC105766;AF075049;AK027348;AK094826;AK294394;AK294633;AK296221;AL031294;AL355809;AL356789;AL356916;AL390023;AL391844;AL445527;AL590432;AL591602;AL645507;AL645730;AMYH02000982;AMYH02000983;AMYH02000984;AMYH02000985;AMYH02000986;AMYH02000987;BC035739;BC126383;BC144171;CH471059;KF495931;KF495938;KF495939;KF495943;NM_032785;XM_006710986 AAI26384;BAB55053;BAG52938;BAG57648;BAG57812;BAG58944;EAX06847;NP_116174;Q5VU57;XP_006711049 Hs.551844;Hs.679809 1337883;1644337;1649885;1654341;1659343;1659808;1666755;1674410;1675107;1686464;1691978;1692240;1692252;1706908;1707028;1708040;1710086;1711110;1714185;1714499;1717323;1718747;1720091;1722189;1724473;1724773;1732818;1732880;1752693;1763379;1770232;1781452;1781652;1781780;1781790;1852293;1853532;2114884;2116701;2118139;2127932;2129843;2145266;2158958;2167134;2168145;2176657;2179783;2180154;2184451;5094312 AFM277XE1;AL009298;AL009543;AL009766;AL009768;AL009808;AL009844;AL009863;AL009928;AL009936;AL009952;AL010030;AL010111;AL033641;AL033781;AL033788;D1S1265;D1S1302;D1S1564;D1S2461;D1S2724;D1S3170;D1S3337;G19122;G54704;G60147;GCT16E08;RH119702;RH119761;RH122152;RH122402;RH122593;RH123062;RH123787;SHGC-106535;SHGC-112093;SHGC-147100;SHGC-154769;SHGC-155734;SHGC-156017;SHGC-31094;SHGC-67363;SHGC-74764;SHGC-74765;SHGC-80942;SHGC-81023;SHGC-81389;SHGC-83708;SHGC-86199;WI-11210;WI-15130 CCP6;FLJ14442 ATP/GTP-binding protein-like 4;OTTHUMP00000009460;OTTHUMP00000009778;cytosolic carboxypeptidase 6 protein-coding ENSG00000186094 HGNC:25892 07487 VALIDATED 1604170 AGBL3 ATP/GTP binding protein-like 3 ENCODES a protein that exhibits metallocarboxypeptidase activity; INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH formaldehyde; valproic acid; vincristine 7 7 7 q33 129408666 129558005 + 134671259 134820530 + 134986508 135135778 + 6480464;8554872 12477932;12853948;14702039;15489334;17244817;20379614;22610502 340351 F8W6Y5;F8W7R4;Q8NEM8 AA707617;ABBA01001112;ABBA01001113;AC083862;AC083870;AC090497;AK021841;AK023045;AK302827;AL832281;AMYH02016811;AMYH02016812;BC030651;CH236950;CH471070;KF510281;NM_178563;XM_006715961;XM_006715962;XM_006715963 AAH30651;BAB14371;BAH13813;EAW83837;EAW83838;NP_848658;Q8NEM8;XP_006716024;XP_006716025;XP_006716026 Hs.648616 1663519;1677836;1687381;1853986;2107551;2148294;2175962;2176968;5022578;5024039 C031ZC1;D16S325;D1S1423;GDB:1317936;RH92031;RH99244;RNF14_797.2;SGC38374;WI-10741;WI-15609 CCP3;FLJ12983;MGC32955 ATP/GTP-binding protein-like 3;OTTHUMP00000208040;OTTHUMP00000225513;cytosolic carboxypeptidase 3 protein-coding ENSG00000146856 HGNC:27981 14175 PROVISIONAL 1602682 AGBL2 ATP/GTP binding protein-like 2 ENCODES a protein that exhibits metallocarboxypeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (ortholog); INTERACTS WITH aflatoxin B1; cyclosporin A; paracetamol 11 11 11 p11.2 47828422 47883671 - 47681143 47736928 - 47659486 47715376 - 6480464;8554872 12477932;12738998;14702039;15489334;18029348;20308539;21303978;8125298 79841 E9PI49;E9PJH3;E9PR59;E9PRJ1;E9PS54;F6U0I4;H9KV53;J9JIH1;Q5U5Z8 ABBA01060693;ABBA01060694;ABBA01060695;ABBA01060696;ABBA01060697;AC021443;AK027251;AK056687;AK223171;AK223176;AK303066;AK303875;AMYH02024737;AMYH02024738;BC028200;BC036234;CH471064;NM_024783;XM_005253138;XM_005253139;XM_005253140;XM_005253141;XM_006718326;XM_006718327;XM_006718328;XM_006718329;XR_242823;XR_242824;XR_428852 AAH28200;AAH36234;BAB15707;BAD96891;BAD96896;BAG64183;BAG64813;EAW67889;EAW67890;EAW67891;NP_079059;Q5U5Z8;XP_005253195;XP_005253196;XP_005253197;XP_005253198;XP_006718389;XP_006718390;XP_006718391;XP_006718392 Hs.147377 1655519;1677989;1716915 RH121749;RH48286;RH99144 CCP2;FLJ23598 ATP/GTP-binding protein-like 2;OTTHUMP00000229536;OTTHUMP00000229537;cytoplasmic carboxypeptidase 2;cytosolic carboxypeptidase 2 protein-coding ENSG00000165923 HGNC:26296 08039 VALIDATED 6481376 AGBL5-AS1 AGBL5 antisense RNA 1 2 p23.3 27049683 27050264 - 100874031 ABBA01045192;AC013472;AI038092;AMYH02003471;NR_046730 Hs.132725 APPROVED ncrna ENSG00000231636 HGNC:41133 VALIDATED 1605057 AGBL5 ATP/GTP binding protein-like 5 ENCODES a protein that exhibits metallocarboxypeptidase activity (ortholog); tubulin binding (ortholog); INVOLVED IN protein branching point deglutamylation (ortholog); protein deglutamylation (ortholog); FOUND IN cytoplasm; cytosol (ortholog); nucleus (ortholog); INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 2 2 2 p23.3 27120838 27139834 + 27274291 27293490 + 27051623 27070622 + 6480464 11256614;12477932;14702039;16344560;16712791;18187620;19913121;20467438;20628086;24022482 60509 C9JCE1;C9JHM6;C9JQG9;C9JTY1;H7C1L5;Q8NDL9 ABBA01045192;AC013403;AC013472;AI990522;AK023398;AK025492;AK302091;AL833844;AMYH02003471;BC007415;BC018562;BC018584;BC062326;BC131498;CB155754;CH471053;DA901318;NM_001035507;NM_021831;NR_104246;XM_005264477;XM_006712058;XM_006712059 AAH07415;AAI31499;AAX93164;AAY14655;BAB14560;BAB15151;BAH13623;CAD38704;EAX00649;EAX00650;EAX00651;EAX00652;EAX00653;NP_001030584;NP_068603;Q8NDL9;XP_005264534;XP_006712121;XP_006712122 Hs.138207 1679487;2129913;2191009;2191449 MARC_12887-12888:999876636:1;MARC_23457-23458:1027109061:1;RH69213;RH80719 CCP5;FLJ21839 ATP/GTP-binding protein-like 5;OTTHUMP00000192904;OTTHUMP00000194458;OTTHUMP00000228571;cytosolic carboxypeptidase 5;cytosolic carboxypeptidase-like protein 5 protein-coding ENSG00000084693 HGNC:26147 07968 615900 VALIDATED 1345768 AGBL1 ATP/GTP binding protein-like 1 Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013] 15 15 15 q25.3 63086740 63973544 + 86623137 87572283 + 86142011 87029052 + 6480464;8699517;7240710;8554872 12477932;14702039;16344560;16543943;18347602;20379614;21074048;21448238;21993531;22041458;22703881;22961001;23400010;23594818;23870195;24094747;24204828 123624 J3KQF5;Q96MI9 ABBA01052977;ABBA01052978;ABBA01052979;ABBA01052980;ABBA01052981;ABBA01052982;ABBA01052983;ABBA01052984;ABBA01052985;ABBA01052986;ABBA01052987;AC012229;AC016180;AC016987;AC018950;AC022817;AC025842;AC069197;AC078905;AC107978;AK056872;AMYH02030975;AMYH02030976;AMYH02030977;AMYH02030978;AMYH02030979;AMYH02030980;AMYH02030981;AMYH02030982;AMYH02030983;AMYH02030984;AMYH02030985;AMYH02030986;AMYH02030987;BC128152;CH471101;DA695799;DV080155;DV080218;DV080486;DV080541;DY655391;DY655510;KF456116;NG_033836;NM_152336 AAI28153;BAB71299;EAX01983;EAX01984;NP_689549;Q96MI9 Hs.679833 1341978;1674236;1704914;1705318;1714461;1715297;1719915;1721161;1724865;1727407;1727763;1750339;1754855;1759159;1760081;1760593;1761951;1762181;1764397;1766451;1775176;1783308 D15S1030;D15S915;G59416;G63111;G63147;RH119196;RH119741;RH120479;RH124056;SHGC-107733;SHGC-112520;SHGC-141776;SHGC-144144;SHGC-145887;SHGC-146066;SHGC-147986;SHGC-149781;SHGC-150912;SHGC-79777;SHGC-79934;SHGC-83037;WI-18649 CCP4;FECD8;FLJ32310;MGC149239 ATP/GTP-binding protein-like 1;OTTHUMP00000195714;cytosolic carboxypeptidase 4 protein-coding ENSG00000166748 HGNC:26504 07115 615496;615523 REVIEWED 1321481 AGFG1 ArfGAP with FG repeats 1 The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 2 2 2 q36.3 222106500 222195457 + 228336853 228425938 + 227472137 227561222 + 1580863;6480464;8554872 10358091;10613896;10737800;11062555;11545741;11854271;12429849;12477932;14554087;14701878;14702039;15489334;15749819;15815621;16354571;16903783;17081983;18029348;18775314;18819912;19149558;19149559;19262425;19738201;20936779;21118098;21139048;21358275;21360055;21439320;21752912;21832049;21906983;22558309;22623428;22863883;22939629;23000965;23984888;24816145;7634337;7637788;8195203;8633082;8805303;8943370;9070945;9303539;9368759;9500467 3267 B8ZZY2;C9J2I0;H7C0S7;P52594 AA676544;ABBA01050181;ABBA01050182;AC097662;AC105286;AI742626;AI955214;AK097451;AK295030;AMYH02005921;AMYH02005922;BC030592;BC039332;BC045581;BC096272;BC096273;BC096274;BC096275;BE843894;BM474292;BQ016135;BX648387;CB990608;CH471063;DB456989;L42025;NM_001135187;NM_001135188;NM_001135189;NM_004504;X89478;XM_005246516;XM_006712478;XM_006712479;XM_006712480;XM_006712481 AAC37580;AAH30592;AAH96272;AAH96273;AAH96274;AAH96275;AAX93270;AAY24254;BAG53473;BAG58086;CAA61667;EAW70871;EAW70872;NP_001128659;NP_001128660;NP_001128661;NP_004495;P52594;XP_005246573;XP_006712541;XP_006712542;XP_006712543;XP_006712544 Hs.352962 1693538;1850421;1854019;2169291;2177077;2190809;2219814 HRB;HRB__6586;RH36613;SHGC-14347;SHGC-58449;WI-15569;WI-4486 DKFZp686I15205;HRB;MGC116938;MGC116940;RAB;RIP HIV-1 Rev binding protein;HIV-1 Rev-binding protein;OTTHUMP00000164242;OTTHUMP00000204059;OTTHUMP00000204060;OTTHUMP00000204061;OTTHUMP00000204062;Rab, Rev/Rex activation domain-binding protein;arf-GAP domain and FG repeat-containing protein 1;arf-GAP domain and FG repeats-containing protein 1;hRIP, Rev interacting protein;nucleoporin-like protein RIP;rev-interacting protein;rev/Rex activation domain-binding protein APPROVED protein-coding ENSG00000173744 HGNC:5175 02918 600862 REVIEWED 737312 AGER advanced glycosylation end product-specific receptor The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011] 6 6 6 p21.3 33715793 33719070 - 32148745 32152099 - 32180968 32184322 - 1566451;1625335;1625342;1625346;1625338;1625343;1625348;1625333;1625341;1331525;1300365;1625339;1300270;1580863;2325651;2325657;2325643;2325645;2325647;2325653;6480464;6767555;6767560;6767556;6767569;6784516;6767307;6784515;6767309;6767557;6767564;6767561;6767566;6767308;5508825;6767562;6767312;6767553;6767554;6767563;6784499;6784514;6784502;6767559;6767315;7245558;7244260;7243964;7244266;7244187;7244369;7244174;7245963;7244279;7245487;7243852;7243867;7245533;7244142;7245542;7243186;7245568;7244134;7244141;7245947;8695985;8695986;7243940;7244135;7242570;7244287;7243185;7244145;7244175;7243868;7243937;7244283;7243851;7244158;7244162;7244164;7243249;7244254;7244255;7245945;7245965;7243248;7243187;7243944;7244176;7245514;7245948;7245957;7243938;7243958;7243949;7243956;7243959;7244245;7244248;7244183;7244186;7245559;7243247;7243251;7244188;7245557;7245562;7243250;7207785;7245961;7244258;7245538;7243184;7244181;7244184;7244246;7244385;7245513;7245955;7244139;7244262;7245515;8695980;8695978;8695984;8695958;8695961;8695988;8695973;8696008;8695992;8553040;8695991;8695968;8695998;8695965;8695966;8695979;8695983;8695990;8548676;8696004;8695995;8695975;8695981;8695994;8695997;8695989;8696001;8695971;8695959;8695967;8695969;8696000;8696002;7364865;8695964;8695960;8695962;8696003;8695970;8695982;8695987;5508765;8547935 10553500;11375354;11457670;11884895;12029499;12606536;12618340;12651605;12808450;12874465;14704946;14747204;15009731;15118671;15539404;15666359;15896660;16283249;16364297;16456142;16505177;16728681;16757496;16969646;17343756;17374970;18058469;18208974;18420491;18825489;19018797;19142024;19277685;19542745;19735169;19759273;19910580;20040351;20056977;20133931;20185929;20195207;20353610;20398646;20541603;20554645;20579752;20606421;20627935;20668462;20685687;20801062;20835270;21041689;21067572;21099228;21270403;21347371;21412218;21418204;21423669;21432860;21450080;21458563;21470837;21511691;21533139;21542009;21593432;21607631;21629785;21643645;21652096;21663912;21680901;21683770;21704028;21738623;21796806;21802905;21811803;21813211;21822023;21856399;21870072;21906738;21920897;21939913;21941211;21947243;21993476;22036861;22038096;22093994;22114731;22116960;22146151;22154374;22171162;22217518;22305260;22337222;22366088;22427038;22467055;22475522;22476978;22491548;22497255;22513366;22528836;22552116;22578261;22644855;22669512;22698798;22698914;22745485;22761461;22795565;22828946;22883037;22915134;22924807;23002359;23046363;23069071;23091285;23146804;23164356;23251674;23288172;23304218;23369670;23396166;23396398;23403079;23497312;23529380;23576805;23587252;23593165;23594597;23630304;23677242;23698784;23769041;23844137;23894457;23936343;24077211;24127697;24132651;24211797;24226635;24291733;24291745;24599045;24619131;24630381;24859607;25014009;25014011;8751438 10391939;10399917;10521570;10531386;10601334;10835680;11007787;11282423;11334430;11586486;11700025;11739380;11811511;11961018;12070776;12475402;12477623;12477932;12495433;12579287;12598893;12651613;12671312;12837757;12859967;12909002;12935895;12941744;1378843;14501001;14571699;14574404;14580673;14595542;14617629;14656967;15019601;15033494;15052533;15053925;15127201;15155381;15170618;15180953;15203887;15213278;15239215;15247020;15289604;15448098;15489334;15547674;15555779;15599399;15663911;15666591;15748606;15790669;15798956;15803111;15893388;15911356;15915542;15926115;15930093;15942078;15942086;15944249;15986224;16037279;16052547;16061848;16127291;16159602;16166741;16271939;16286548;16305072;16374460;16440015;16493495;16644647;16716307;16788244;16847147;16899960;16954185;16954682;16969649;17004092;17024691;17035340;17158877;17170388;17172923;17218539;17224333;17237617;17343760;17345061;17355942;17405935;17425804;17434489;17474147;17497647;17508727;17512509;17536039;17549666;17560613;17588956;17592553;17593216;17601350;17613396;17639302;17640970;17660747;17661837;17700210;17714874;17924846;18032526;18046662;18050248;18078623;18079485;18079965;18080716;18089847;18179750;18231794;18245812;18256374;18279703;18279705;18302220;18322992;18339893;18355449;18421017;18427074;18431028;18438937;18458846;18477569;18480271;18519797;18550199;18575614;18576917;18593464;18595673;18603587;18606705;18615900;18645306;18657529;18660489;18667420;18689872;18698218;18701333;18775683;18777492;18789567;18796298;18854308;18922799;18926539;18948101;18952609;18977241;18987644;19005067;19023628;19032093;19061941;19071026;19087540;19088375;19103440;19129693;19133252;19143681;19143821;19167759;19183936;19201044;19204726;19217461;19217891;19248116;19252206;19275767;19284577;19285601;19332646;19376511;19380603;19380826;19386136;19405075;19439163;19440065;19448391;19451748;19501570;19530996;19571577;19576587;19578796;19587357;19591173;19616266;19635564;19659809;19672558;19679874;19766904;19786934;19815443;19820033;19822091;19834494;19851445;19876719;19890027;19902324;19906677;19909734;19913121;19924100;19944695;19945761;19948975;19998499;20010834;20010835;20023238;20028692;20028726;20031245;20051912;20074734;20093728;20112183;20171262;20215707;20359119;20359471;20372816;20410680;20414834;20485444;20492604;20504772;20507991;20512925;20522598;20537326;20567859;20568058;20578941;20595148;20627100;20628086;20630999;20631986;20650982;20684319;20685137;20701913;20726326;20732329;20739563;20817881;20847094;20928981;20943659;20947022;21067489;21072897;21080832;21086782;21089112;21115116;21126167;21127710;21137019;21197704;21208063;21211520;21254649;21254849;21257730;21278261;21282351;21297263;21298413;21303685;21311028;21316677;21317562;21325454;21357189;21365018;21389696;21450369;21472666;21472688;21511948;21512281;21521347;21527578;21540233;21565706;21576827;21609778;21617715;21706016;21724696;21736957;21749686;21767223;21771973;21829704;21832049;21844192;21861709;21865159;21871056;21872861;21914366;21945853;21947881;21965014;21978883;21990362;22012330;22025532;22027013;22072229;22097731;22137663;22189627;22194616;22206663;22211895;22212601;22229442;22264245;22315985;22337892;22339587;22353366;22354095;22382005;22386596;22402134;22405771;22417726;22460069;22490537;22509024;22509345;22553402;22633675;22652038;22771726;22777515;22785051;22835520;22837190;22843047;22860017;22860029;22863784;22900949;22920235;22960399;22964273;22965881;22966766;22983919;22987041;22989605;23071492;23103427;23144152;23182709;23206470;23218576;23228658;23236395;23252485;23254359;23275625;23284291;23284645;23318458;23325627;23331756;23340902;23398829;23421467;23426492;23432638;23466064;23508966;23523633;23525442;23527722;23535732;23545311;23559480;23571222;23628898;23693020;23712703;23721855;23729200;23755764;23759926;23861159;23867237;23874853;23894685;23911608;23947473;23954397;23973487;23975852;24058542;24078092;24081950;24107402;24113348;24133579;24155913;24156267;24177755;24188108;24217195;24228009;24231387;24248547;24252909;24260107;24273313;24276448;24276462;24284407;24302816;24303504;24303922;24304868;24363518;24373844;24395344;24420130;24427342;24472555;24515114;24520905;24564838;24613454;24697697;24744309;24824951;24971542;24982031;25012910;25016700;7713518;7835890;7887450;8787669;8889548;9195959;9734395;9812979 177 A8MS87;B4DNX3;B5A982;C0IP14;Q15109;Q3L1R2;Q5SSZ2;Q5SSZ3 AB036432;AB061668;AB061669;ABBA01038108;AF001095;AF065211;AF065212;AF208289;AF536236;AF536237;AF537303;AJ133822;AJ238896;AK298100;AK313178;AL662830;AL662884;AL845464;AMYH02013469;AY755619;AY755620;AY755621;AY755622;AY755623;AY755624;AY755625;AY755626;AY755627;AY755628;BC020669;BM971899;BX284686;BX927239;CH471081;CR812478;CR933878;CS300822;D28769;DQ104251;DQ104252;DQ104253;DQ104254;EU117141;EU428811;EU428812;EU428813;EU428814;EU428815;EU428816;EU826616;EU826617;EU826618;EU826619;EU826620;FJ545655;GU139370;GU139371;GU139372;GU139373;GU139374;GU139375;GU139376;GU139377;GU139378;GU139379;GU139381;GU139382;HQ148133;HQ148134;HQ148135;KC692917;M91211;NG_029868;NM_001136;NM_001206929;NM_001206932;NM_001206934;NM_001206936;NM_001206940;NM_001206954;NM_001206966;NM_172197;NR_038190;U89336 AAA03574;AAB47491;AAD15888;AAD15889;AAG35728;AAH20669;AAQ10685;AAQ10686;AAQ10782;AAX07272;AAX07273;AAX07274;AAX07275;AAX07276;AAX07277;AAX07278;AAX07279;AAX07280;AAX07281;AAZ32412;AAZ32413;AAZ32414;AAZ32415;ABM84501;ABM87820;ABV03807;ACE78167;ACE78168;ACE78169;ACE78170;ACF47652;ACF47653;ACF47654;ACF47655;ACF47656;ACL80027;ADQ42256;ADQ42257;ADQ42258;ADQ42259;ADQ42260;ADQ42261;ADQ42262;ADV92535;ADV92536;ADV92537;AHB30241;BAA05958;BAA89369;BAC65465;BAC65466;BAG35995;BAG60385;CAB43094;CAB43108;CAK32486;EAX03610;EAX03611;NP_001127;NP_001193858;NP_001193861;NP_001193863;NP_001193865;NP_001193869;NP_001193883;NP_001193895;NP_751947;Q15109 Hs.534342 1678331;1679343;1681314;1683966;1745455;1792758;1793208;2160329;2161369;2161377;2190893 D3S4540;D6S1871;GDB:607721;MARC_10431-10432:999637141:1;PMC162222P2;PMC203021P1;RH40485;RH46823;RH65115;RH67947;STS-D60277 MGC22357;RAGE OTTHUMP00000029155;OTTHUMP00000029156;OTTHUMP00000174885;RAGE isoform NtRAGE-delta;RAGE isoform delta;RAGE isoform sRAGE-delta;receptor for advanced glycation end-products variant 20;receptor for advanced glycosylation end products;receptor for advanced glycosylation end-products APPROVED protein-coding ENSG00000204305 HGNC:320 02568 600214 REVIEWED 1315293 AGFG2 ArfGAP with FG repeats 2 This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Feb 2013] 7 7 7 q22.1 94866633 94895642 + 100136834 100165843 + 100539211 100568220 + 1580863;6480464 10613896;12477932;12690205;14702039;15489334;19149558;19946888;21358275;21832049;22558309;7568168;8889548;9303539;9799793 3268 A4D2D6;H7BZA5;O95081 ABBA01013198;ABBA01013199;ABBA01013200;ABBA01013201;ABBA01013202;AC069281;AF015042;AK057758;AK090744;AK314954;AMYH02016382;AMYH02016383;BC009393;BC017329;BC047227;BF310674;BF314987;BU608908;CH236956;CH471091;NM_006076;XM_005250306;XM_006715958 AAD01550;AAH09393;AAH17329;BAG37459;EAL23829;EAW76522;EAW76523;EAW76524;EAW76525;NP_006067;O95081;XP_005250363;XP_006716021 Hs.521083 1788242;2155225;2168562;2182882 D7S3103;SHGC-30530;STS-T78086;WI-16019 HRBL;RABR HIV-1 Rev binding protein-like;HIV-1 Rev-binding protein-like protein;OTTHUMP00000209085;Rev/Rex activation domain binding protein-related;arf-GAP domain and FG repeat-containing protein 2;arf-GAP domain and FG repeats-containing protein 2;nucleoporin;rev/Rex activation domain-binding protein related APPROVED protein-coding ENSG00000106351 HGNC:5177 04932 604019 REVIEWED 2881504 AGGF1P3 angiogenic factor with G patch and FHA domains 1 pseudogene 3 3 3 3 p12.3 76446336 76448467 - 75702601 75704732 - 75653450 75655581 - 391552 ABBA01030989;AC108724;AC245159;NG_022208 pseudo HGNC:38053 INFERRED 3302159 AGGF1P4 angiogenic factor with G patch and FHA domains 1 pseudogene 4 6 16 16 p11.1 67008523 67009364 - 34623574 34624415 - 35389203 35390044 - 100129351 ABBA01002115;AC007353;AMYH02031954;NG_022503 pseudo HGNC:38054 INFERRED 1350142 AGGF1 angiogenic factor with G patch and FHA domains 1 This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010] 5 5 5 q13.3 72220718 72255361 + 76326210 76361059 + 77030385 77065234 + 737633;6480464;8554872 12477932 10737800;14702039;14961121;15486042;15489334;15905966;16189514;16443853;16911369;17103452;17332742;18564129;19556247;19615732;20360068;21576349;22365833;22990118;23628701;24462738;24816145 55109 H0Y8F8;Q8N302 ABBA01061975;ABBA01061976;AC008581;AI453097;AK001145;AK097255;AK289394;AMYH02011612;AMYH02011613;AW500409;AW958325;AY500994;AY500996;BC002828;BC015478;BC029382;BC032844;BC073864;BE077189;BI561566;BM998072;BX648120;CF994178;CH471084;DR157679;NG_027822;NM_018046;U84971 AAB60856;AAH02828;AAH15478;AAH29382;AAH32844;AAR97615;AAR97617;ADZ15761;BAA91519;BAF82083;EAW95787;EAW95788;EAW95789;NP_060516;Q8N302 Hs.634849 1657662;1669444;1678735;1722591;1744337;2110031;2174490;2176741 G31520;G60377;GDB:451724;HSC2RB032;RH103381;RH18441;SHGC-58119;VG5Q_9874 FLJ10283;GPATC7;GPATCH7;HSU84971;HUS84971;VG5Q;hVG5Q G patch domain-containing protein 7;OTTHUMP00000128327;angiogenic factor VG5Q;vasculogenesis gene on 5q protein APPROVED protein-coding ENSG00000164252 HGNC:24684 07621 608464 REVIEWED 3398757 AGGF1P1 angiogenic factor with G patch and FHA domains 1 pseudogene 1 4 4 q35.2 190962139 190965441 + 190040984 190044286 + 100132380 AF146191;AMYH02010728;NG_022094;U85056 1731663;2130080 D11S4416;D4S1620 pseudo HGNC:38051 INFERRED 3476565 AGGF1P2 angiogenic factor with G patch and FHA domains 1 pseudogene 2 10 10 q26.3 135455591 135456399 + 133642087 133642895 + 644435 ABBA01115473;AC245077;AL731696;NG_005569 1731663;2130080 D11S4416;D4S1620 pseudo HGNC:38052 INFERRED 1352363 AGK acylglycerol kinase The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012] 7 7 7 q34 135972707 136075841 + 141251078 141354209 + 141551278 141654409 + 6480464;8699517;7240710;8554872 12477932;12690205;12853948;14702039;15252046;15489334;15939762;16169070;16269826;16344560;17135245;18004883;19167051;19549252;20186120;20877624;21139048;21145461;21875946;21890473;21906983;22268729;22277967;22284826;22415731;22797925;22864860;23266196;23676499;24244333;24457600;24816145;8125298 55750 A4D1U5;E9PC15;E9PG39;F8WDD1;Q53H12 ABBA01034104;ABBA01034105;ABBA01034106;ABBA01034107;ABBA01034108;AC004918;AC073878;AC099547;AJ278150;AK001704;AK222769;AK299131;AK304502;AMYH02016920;AMYH02016921;AMYH02016922;AX877343;BC009775;BC022777;CH236950;CH471070;DB032353;NG_032079;NM_018238;XM_005250021;XM_005250023 AAH09775;AAH22777;AAS07537;AAS07538;BAA91848;BAD96489;BAG61184;BAG65310;CAB93536;CAE89682;EAL24020;EAW83972;EAW83973;NP_060708;Q53H12;XP_005250078;XP_005250080 Hs.743318 1672232;1679636;1786378;2121441;2128066;2144660 D7S1627;D7S2726;G31090;RH45804;RH80969;SHGC-171949 CATC5;CTRCT38;FLJ10842;MTDPS10;MULK;hAGK;hsMuLK OTTHUMP00000212223;OTTHUMP00000212224;OTTHUMP00000212226;acylglycerol kinase, mitochondrial;multi-substrate lipid kinase;multiple substrate lipid kinase APPROVED protein-coding HGNC:21869 08554 212350;610345;614691 REVIEWED 2794508 AGKP1 acylglycerol kinase pseudogene 1 X Y Y q11.21 3736898 3739138 + 16750954 16753194 + 14639074 14641314 + 12815422;9847074 359793 ABBA01056972;AC010979;NG_002810;NG_028212 AGKY1 pseudo HGNC:37661 INFERRED 1346834 AGMX2 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) ASSOCIATED WITH Agammaglobulinemia, X-linked, type 2 (inferred) 7240710 179 HGNC:323 300310 1318183 AGMAT agmatine ureohydrolase (agmatinase) ENCODES a protein that exhibits agmatinase activity (inferred); metal ion binding (inferred); INVOLVED IN agmatine biosynthetic process (inferred); cellular nitrogen compound metabolic process (inferred); polyamine metabolic process (inferred); PARTICIPATES IN arginine and proline metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; copper(2+) sulfate 1 1 1 p36.21 14382018 14394470 - 15898194 15911605 - 15571699 15585110 - 1580863;6480464;6907045;8554872 11804860;11914032;12477932;14648699;14702039;15028567;15489334;16341674;16511187;16710414;19322201;20379614;20563878;20808825;20877624;21803059;22939629;23740519;8125298;9758718 79814 Q9BSE5 ABBA01004706;ABBA01004707;AK130034;AK225366;AL121992;AMYH02000362;AY057097;BC005090;BM788254;CH471167;DN996958;NM_024758;U58668 AAH05090;AAL24446;ABM84456;ABM87745;EAW51735;EAW51736;EAW51737;EAW51738;NP_079034;Q9BSE5 Hs.461532 1654060;1699454;2151890;2170938;5014003;5015619;5017326;5020740;5020946;5024413;5037552;5095832 D11S3114;D17S1136;D8S2279;D8S377;L17809;L17877;L17971;RH103318;RH47164;SHGC-2619;SHGC-64014;SHGC-74260 AUH;FLJ23384 OTTHUMP00000002467;agmatinase, mitochondrial protein-coding HGNC:18407 12436 VALIDATED 1314958 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 1 p21 98570515 98644447 + 100315633 100389579 + 99850077 99924023 + 1566516;1331525;1598779;1598784;1601129;1642741;1642743;2304191;6480464;6907045;7240710;8554872;8699517 11766064;15118671;15180797;16705713;6449198;807434;8755644;9281456 10571954;10925384;10982190;11378828;11924557;12477932;1374391;14718574;1505983;15489334;15833157;15886229;17047887;17908927;17915576;18029348;18781797;18924225;19299494;19754354;19834502;20158661;20301788;20379614;20562859;20648714;20800603;21145461;21697133;21890473;21906983;21963094;22035446;22053931;22424883;22863883;22939629;2295969;23218918;23649758;23882694;24257475;24337577;24639526;24816145;8702417;8954797;8990006;933239;9332391;9412782;9490286;9691087 178 P35573 AB035443;AB208867;AB621804;ABBA01045447;ABBA01045448;AC096949;AK130308;AMYH02001550;AMYH02001551;BC020705;BC057220;BC078663;C00487;CH471097;M85168;NG_012865;NM_000028;NM_000642;NM_000643;NM_000644;NM_000645;NM_000646;U84007;U84008;U84009;U84010;U84011;XM_005270557 AAB41040;AAB48466;AAB48467;AAB48468;AAB48469;AAB48470;AAH78663;BAA88405;BAD92104;BAK64140;EAW72980;EAW72981;EAW72982;EAW72983;EAW72984;EAW72985;EAW72986;EAW72987;NP_000019;NP_000633;NP_000634;NP_000635;NP_000636;NP_000637;P35573;XP_005270614 Hs.904 1663791;1706818;1706904;2184556;2187597;2187643;5126262;5491761 AGL;AL009285;D1S2186;D1S3207;RH11727;SHGC-80886;SHGC-80940;WI-17303 GDE OTTHUMP00000012500;OTTHUMP00000012501;OTTHUMP00000012502;OTTHUMP00000012503;OTTHUMP00000012504;OTTHUMP00000012505;amylo-1, 6-glucosidase, 4-alpha-glucanotransferase;glycogen debrancher;glycogen debranching enzyme APPROVED protein-coding ENSG00000162688 HGNC:321 01984 232400;610860 REVIEWED 1606863 AGMO alkylglycerol monooxygenase The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] 7 7 7 p21.2 15219639 15581346 - 15239943 15601640 - 15200318 15562015 - 6480464;8554872 12477932;12690205;20081858;20419449;20571754;20613766;20643956;22220568;22399527;23251661;24722188 392636 H0Y3V1;H7C0E0;Q6ZNB7;X5D773 ABBA01056614;ABBA01056615;ABBA01056616;ABBA01056617;ABBA01056618;ABBA01056619;ABBA01056620;ABBA01056621;ABBA01056622;ABBA01056623;AC004452;AC012061;AC091789;AC099412;AC099651;AK131284;AMYH02015281;AMYH02015282;AMYH02015283;AMYH02015284;AMYH02015285;AMYH02015286;BC108676;CH236948;CH471073;KF458385;KJ534765;NM_001004320;XM_006715730;XM_006715731 AAI08677;AHW56405;BAD18458;EAL24290;EAL24291;EAW93665;NP_001004320;Q6ZNB7;XP_006715793;XP_006715794 Hs.670634 1335544;1676622;1711902;1760603;1764299;1771927;1854789;5022651;7183403 AFM074ZG5;D11S2921;D7S2340;D7S2557;G49562;RH92058;SHGC-144154;SHGC-147914 FLJ16237;MGC131748;TMEM195 OTTHUMP00000201582;glyceryl-ether monooxygenase;transmembrane protein 195 APPROVED protein-coding ENSG00000187546 HGNC:33784 13362 613738 REVIEWED 1312163 AGO1 argonaute RISC catalytic component 1 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and argonaute 4. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 34623239 34664327 + 36335412 36395211 + 35883209 35929610 + 1580863;4144862;6480464;8554872 20484662 10512872;10534406;12230974;12414724;12477932;12526743;12906857;14702039;15152257;15489334;15908945;15937477;16196087;16710414;16756390;16936726;16936728;17267406;17400507;17482383;17891150;17932509;18345015;18482256;18771919;18779327;19047128;19138993;19167051;19269368;19380743;19383768;19393748;19470757;19716330;19723326;19767416;19851984;19913121;19946268;20211803;20308539;20628086;20671708;20721975;20732906;20819778;21145461;21846468;21906983;21948796;21963094;21988832;22025453;22231398;22474261;22647351;22858679;22961379;23019594;23426184;23665583;23696926;23746446;23748378;23809764;24086155;24250222;24457600;24778252;24816145;25036637;9417904 26523 Q5TA58;Q9UL18 ABBA01023323;ABBA01023324;ABBA01023325;ABBA01023326;ABBA01023327;AF093097;AK000326;AK001622;AK002003;AK025726;AK027611;AK125879;AK314148;AL139286;AMYH02000772;AMYH02000773;BC063275;CH471059;CR936823;NM_012199;U92986;XM_006710575 AAF00068;AAH63275;BAG36835;BAG50952;EAX07396;NP_036331;Q9UL18;XP_006710638 Hs.22867;Hs.656677 1660836;1700796;1745923;1771522;1771524;2114457;2121075;2217296 A006G35;EIF2C1_617;G20793;G64298;L18179;RH104023;SHGC-74590;SHGC-74594 DKFZp686M13167;EIF2C;EIF2C1;GERP95;Q99;eIF-2C 1;eIF2C 1;hAgo1 Golgi Endoplasmic Reticulum protein 95 kDa;OTTHUMP00000008518;OTTHUMP00000008519;argonaute 1;argonaute1;eukaryotic translation initiation factor 2C, 1;protein argonaute-1;putative RNA-binding protein Q99 APPROVED protein-coding HGNC:3262 06942 606228 REVIEWED 1348475 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33703030 33712935 - 32135983 32145888 - 32168206 32178111 - 1580863;6480464;6907045 11487472;12477932;14574404;14656967;14702039;15231747;15489334;16341674;16344560;16571775;16870193;17707131;19143821;19322201;19851445;19946888;22359512;22797925;23088713;23362303;23535732;23824909;24250222;8619474;8944226;9110174;9212163;9291118;9450025;9461603 10554 B3KPH3;Q99943;Q9HBM8 ABBA01038108;AF007145;AF218034;AI193422;AK056346;AK058025;AK129818;AK299252;AK315950;AL662828;AL662884;AL845464;AMYH02013469;BC002402;BC003007;BC004310;BC006818;BC090849;BM763275;BX284686;BX927239;CH471081;CR812478;CR933878;DA529681;DB118884;NM_006411;NM_032741;U56417;U75971;U89336;XM_005248805;XM_005248806;XM_005272761;XM_005272762;XM_005274829;XM_005274830;XM_005275073;XM_005275074;XM_005275203;XM_005275204;XM_005275337;XM_005275338;XM_005275504;XM_005275505;Y09565 AAB47493;AAB58775;AAB96378;AAC19153;AAG17276;AAH02402;AAH03007;AAH04310;AAH90849;BAG51685;BAG61283;BAH14321;CAA70758;EAX03599;EAX03600;EAX03601;EAX03602;EAX03603;EAX03604;EAX03605;EAX03606;NP_006402;NP_116130;Q99943;XP_005248862;XP_005248863;XP_005272818;XP_005272819;XP_005274886;XP_005274887;XP_005275130;XP_005275131;XP_005275260;XP_005275261;XP_005275394;XP_005275395;XP_005275561;XP_005275562 Hs.409230 1675331;2124218;2136027;2191639 D6S1154E;D6S1412;MARC_31849-31850:1068218042:1;RH91426 1-AGPAT 1;1-AGPAT1;G15;MGC4007;MGC5423 1-AGP acyltransferase 1;1-acyl-sn-glycerol-3-phosphate acyltransferase alpha;1-acylglycerol-3-phosphate O-acyltransferase 1 (acetoacetly Coenzyme A thiolase);1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha);LPAAT-alpha;LPAATA;OTTHUMP00000029298;OTTHUMP00000029299;OTTHUMP00000029300;OTTHUMP00000029301;OTTHUMP00000029302;OTTHUMP00000174886;lysophosphatidic acid acyltransferase alpha;lysophospholipid acyltransferase APPROVED protein-coding ENSG00000204310 HGNC:324 04372 603099 REVIEWED 732767 AGO2 argonaute RISC catalytic component 2 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 8 8 8 q24 137710380 137814765 - 141541264 141645646 - 140531165 140635547 - 1580863;4144862;6480464;8554872 20484662 10534406;11914277;12230974;12414724;12477932;12526743;12906857;14749716;14970384;15284456;15489334;15800637;15908945;15937477;15973356;16196087;16301602;16357216;16424907;16611939;16699599;16756390;16936728;17116888;17267406;17382880;17400507;17495927;17524464;17531811;17671087;17881374;17891150;17932509;17938239;18178619;18222171;18476811;18591665;18669659;18690212;18771919;18787018;18946079;18981691;19047128;19061863;19064005;19138993;19159466;19167051;19322201;19324964;19380743;19383768;19393748;19458189;19470757;19508234;19536157;19560422;19625255;19647520;19716330;19723326;19784364;19801630;19820710;19838187;19851984;19946268;19946888;20020773;20146808;20197313;20198652;20211803;20237157;20308539;20385818;20395958;20402672;20505670;20671708;20696395;20699384;20721975;20924207;21071408;21139048;21145461;21148147;21177824;21241449;21383194;21423624;21535412;21552258;21562054;21634124;21769619;21840310;21846468;21868483;21903422;21906983;21948796;21951848;21963094;21964070;21969601;21988832;22014067;22025453;22055194;22163034;22215596;22233755;22366686;22394132;22474261;22539551;22647351;22682761;22791714;22851315;22858679;22961379;23019594;23077538;23091627;23143396;23201202;23245472;23258480;23289589;23400010;23411422;23443559;23512276;23603119;23636329;23664376;23665583;23696368;23696926;23741051;23748378;23763827;23775134;23824327;23877830;23901138;23926332;24023945;24086155;24209750;24263100;24326307;24361012;24457600;24602972;24654937;24778252;24816145;24886719;25036637 27161 A4FVC0;E5RGG9;E5RJY2;Q9UKV8 AA909234;ABBA01013673;ABBA01013674;AC067931;AC107375;AF121255;AI468419;AMYH02018885;AMYH02018886;AMYH02018887;AY077717;BC007633;BC018727;BC125213;BC125214;BT007229;CH471060;CS300529;NM_001164623;NM_012154 AAF13034;AAH07633;AAH18727;AAI25214;AAI60104;AAL76093;AAP35893;CAK32193;EAW92207;EAW92208;NP_001158095;NP_036286;Q9UKV8 Hs.743313 1341123;1662396;1671989;1685037;1700416;1762431;1779998 D8S1635;D8S1717;RH103829;RH45183;SHGC-146257;SHGC-154248;WI-11623 EIF2C2;MGC3183;PPD;Q10;eIF-2C 2;eIF2C 2;hAgo2 OTTHUMP00000226229;OTTHUMP00000226251;PAZ Piwi domain protein;argonaute 2;argonaute2;eukaryotic translation initiation factor 2C, 2;protein argonaute-2;protein slicer APPROVED protein-coding ENSG00000123908 HGNC:3263 06943 606229 REVIEWED 1319350 AGO3 argonaute RISC catalytic component 3 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p34 34671200 34796478 + 36396364 36522360 + 35930763 36056759 + 4144862;6480464 20484662 10997877;12414724;12477932;12526743;12906857;14702039;16196087;18187620;18771919;19167051;19383768;19393748;19470757;19946888;21145461;21634124;21906983;21963094;21988832;22474261;23064648;23665583;23748378;24778252 192669 B4E1P5;Q5TA56;Q9H9G7 AA251146;ABBA01023319;ABBA01023320;ABBA01023321;ABBA01023322;ABBA01023323;AK022827;AK027796;AK292870;AK302289;AK303929;AL138787;AL139286;AMYH02000773;AMYH02000774;AMYH02000775;BC025769;BC066888;BC144409;BF438817;BF979526;BX104163;CH471059;NM_024852;NM_177422;XM_005270575;XM_005270576;XM_006710404 AAH66888;AAI56435;AAI72480;BAB14262;BAB55374;BAF85559;BAG63629;BAG64857;EAX07394;EAX07395;NP_079128;NP_803171;Q9H9G7;XP_005270632;XP_005270633;XP_006710467 Hs.657659 1697882;1754811;2147155;2151124 RH102469;SHGC-141728;SHGC-74570;SHGC-74579 EIF2C3;FLJ12765;MGC86946;eIF-2C 3;eIF2C 3;hAgo3 OTTHUMP00000008758;OTTHUMP00000008759;argonaute 3;argonaute3;argonaute3 {ECO:0000255|HAMAP-Rule:MF_03032};eIF-2C 3 {ECO:0000255|HAMAP-Rule:MF_03032};eIF2C 3 {ECO:0000255|HAMAP-Rule:MF_03032};eukaryotic translation initiation factor 2C 3 {ECO:0000255|HAMAP-Rule:MF_03032};eukaryotic translation initiation factor 2C, 3;protein argonaute-3 APPROVED protein-coding ENSG00000126070 HGNC:18421 09558 607355 REVIEWED 1312105 AGO4 argonaute RISC catalytic component 4 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic containing PAZ and PIWI domains, and it may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and eukaryotic translation initiation factor 2C, 1. [provided by RefSeq, Jul 2008] 1 1 1 p34 34548288 34595633 + 36273231 36323491 + 35807630 35857890 + 1580863;4144862;6480464 20484662 10997877;11329013;12414724;12477932;12526743;12906857;16094384;18771919;19167051;19383768;19393748;19470757;19946888;20146808;21832049;21906983;23748378;24778252 192670 Q9HCK5 AB046787;ABBA01023328;ABBA01023329;ABBA01023330;AK000040;AL354864;AL359186;AL831908;AMYH02000770;BC152450;BG186585;CA419947;CH471059;NM_017629;XM_005270578;XM_005270579;XR_246243;XR_246244 AAI52451;AAI60021;BAA90899;BAB13393;EAX07398;EAX07399;EAX07400;NP_060099;Q9HCK5;XP_005270635;XP_005270636 Hs.744858 1657682;1690562;1774857;2123559;5022322;5093290 A009K46;AL010009;D11S2560;G32631;RH80595;SHGC-74548 EIF2C4;eIF-2C 4;eIF2C 4;hAgo4 OTTHUMP00000004431;argonaute 4;argonaute4;eukaryotic translation initiation factor 2C, 4;protein argonaute-4 APPROVED protein-coding ENSG00000134698 HGNC:18424 09559 607356 REVIEWED 1319453 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 110081330 110095564 - 139567595 139581911 - 136673143 136687459 - 1580863;1598407;1598785;6480464;6907045;7240710;8554872;8699517 11967537 10487716;12477932;14602785;15028826;15146197;15181077;15489334;15629135;15841084;16435205;16870193;18155601;18698612;19226263;19278620;20301391;21152068;21176343;21873652;21890473;21906983;21963094;21987572;21988832;22872237;22902344;23578572;24205284;8944226;9212163;9242711;9291118;9461603 10555 O15120;Q96IS9 ABBA01022716;AF000237;AF011374;AL590226;AMYH02021906;BC000026;BC004529;BC007269;BC019292;BF347518;CH471090;CN407343;NG_008090;NM_001012727;NM_006412;U56418 AAB58776;AAB64299;AAC51649;AAH00026;AAH04529;AAH07269;AAH19292;ABM83072;ABM86268;EAW88249;EAW88250;EAW88251;EAW88252;NP_001012745;NP_006403;O15120 Hs.320151 1336577;1341252;1680032;2110245 AGPAT2_9138;D9S1818;D9S1826;RH41872 1-AGPAT 2;1-AGPAT2;BSCL;BSCL1;LPAAT-beta 1-AGP acyltransferase 2;1-acyl-sn-glycerol-3-phosphate acyltransferase beta;1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta);1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta);LPAAB;OTTHUMP00000022595;OTTHUMP00000022596;lysophosphatidic acid acyltransferase beta;lysophosphatidic acid acyltransferase-beta APPROVED protein-coding ENSG00000169692 HGNC:325 04373 603100;608594 REVIEWED 1348313 AGPAT4-IT1 AGPAT4 intronic transcript 1 (non-protein coding) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; benzene; copper(2+) sulfate 6 6 6 q26 162310546 162312414 - 161581146 161583014 - 161160114 161161982 - 6480464;8554872 11230166;12477932;14574404;14702039;15489334 79992 Q9H0P7 ABBA01015150;AK026765;AL136708;AMYH02014891;BC101668;BC112291;CH471051;NR_024277 BAB15545;CAB66643;EAW47584;Q9H0P7 Hs.664873 5493127 UniSTS:484386 C6orf59;FLJ23112;NCRNA00241 APPROVED ncrna HGNC:20988 12889 VALIDATED 1314029 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30390772 30513125 + 45285116 45407475 + 43865149 43987594 + 1580863;6480464;6907045 11487472;12107412;12477932;12975309;14702039;15367102;15489334;16620771;16780588;17207965;19635840;19946888;20379614;20537980;21173190;21829377;21832049;21890473;21906983 56894 C9J184;C9JK35;C9JL26;C9JQX8;Q9NRZ7 AB001523;AB040138;ABBA01074146;ABBA01074147;ABBA01074148;ABBA01074149;ABBA01074150;ABBA01074151;AF156774;AF156775;AK026135;AK074300;AK125804;AK300562;AL109795;AL355720;AL355721;AL832919;AMYH02037902;AMYH02037903;AP001053;AP001054;AY358704;BC004219;BC004413;BC011971;BC013167;BC026047;BC040603;BC063552;BM083518;BM476336;CD672915;CH471079;KF457334;NM_001037553;NM_020132;XM_005261159;XM_005261160;XM_006724029;XM_006724030;XM_006724031;XM_006724032 AAF80336;AAF80337;AAH11971;AAH40603;AAH63552;AAQ89067;ADQ31993;BAB18943;BAB85042;BAC86299;BAG62268;CAD38635;EAX09461;EAX09462;EAX09463;EAX09464;EAX09465;NP_001032642;NP_064517;Q9NRZ7;XP_005261216;XP_005261217;XP_006724092;XP_006724093;XP_006724094;XP_006724095 Hs.248785 1341100;1644083;1688871;1690818;1735038;1763671;1768583;1776970;1850451;1851179;1858212;2143529;2151093;2151095;2163115;2163117;2167021;2177233;2187280;5016596;5017227;5020881;5022450;5022576;5022651;5109281;7186336 A001U44;A006H21;D10S275;D11S2921;D1S1361;D1S1425;D21S1259;D21S1730E;D21S1978;D21S2032;G19674;G20808;G34528;G34769;G38154;GDB:631802;L17709;RH79188;RH80899;RH93369;SHGC-147354;SHGC-51977;SHGC-52117;SHGC-52127;SHGC-87692;SHGC-87713 LPAAT-GAMMA1;LPAAT3;MGC4604 1-AGP acyltransferase 3;1-AGPAT 3;1-acyl-sn-glycerol-3-phosphate acyltransferase gamma;OTTHUMP00000109478;OTTHUMP00000109479;OTTHUMP00000109480;OTTHUMP00000109481;OTTHUMP00000109482;OTTHUMP00000109485;OTTHUMP00000109487;lysophosphatidic acid acyltransferase gamma;lysophosphatidic acid acyltransferase-gamma1 APPROVED protein-coding ENSG00000160216 HGNC:326 10637 614794 REVIEWED 1354001 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008] 6 6 6 q26 162280457 162424409 - 161551057 161695107 - 161130025 161274075 - 1580863;6480464;6907045;8554872 11487472;12477932;12975309;14574404;15367102;15489334;17207965;17474147;20379614;21906983;24047446;9828130 56895 B4DMU6;B4DSF9;G3XAF1;H0Y5R3;Q5TEE8;Q6AI25;Q9NRZ5 ABBA01015147;ABBA01015148;ABBA01015149;ABBA01015150;AF156776;AJ227890;AJ227891;AJ420473;AK074208;AK295025;AK295548;AK295826;AK297636;AK299721;AL109942;AL122123;AL832128;AMYH02014890;AMYH02014891;AX119047;AY358506;BC013410;BC020209;BQ072907;CH471051;CR627395;KF458354;NM_020133;XM_005267052;XM_005267053;XM_005267054;XM_005267055;XM_006715512;XM_006715513;XM_006715514;XM_006715515 AAF80338;AAH13410;AAH20209;AAQ88870;ADQ32161;BAG58081;BAG58454;BAG58643;BAG60008;BAG61621;CAC38597;CAH10489;EAW47577;EAW47578;EAW47579;EAW47580;EAW47581;EAW47582;EAW47583;NP_064518;Q9NRZ5;XP_005267109;XP_005267110;XP_005267111;XP_005267112;XP_006715575;XP_006715576;XP_006715577;XP_006715578 Hs.353175 1650530;1751979;1775020;2158527 RH46750;RH63713;SHGC-105981;WI-13958 1-AGPAT4;LPAAT-delta;RP3-473J16.2;dJ473J16.2 1-AGP acyltransferase 4;1-AGPAT 4;1-acyl-sn-glycerol-3-phosphate acyltransferase delta;1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta);OTTHUMP00000017554;lysophosphatidic acid acyltransferase delta;lysophosphatidic acid acyltransferase-delta (LPAAT-delta) APPROVED protein-coding ENSG00000026652 HGNC:20885 12437 614795 REVIEWED 1606717 AGPAT6 1-acylglycerol-3-phosphate O-acyltransferase 6 Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004] 8 8 8 p11.21 40384627 40431440 + 41435702 41482520 + 41578188 41625001 + 6480464;6907045;8554872 12477932;12938015;12975309;15489334;16625827;16713569;18238778;20181984;21906983;21988832;8944226 137964 E5RGW3;E5RHA6;E5RIA1;Q2TU73;Q86UL3 ABBA01021135;AC009630;AF317516;AF406612;AL834255;AMYH02017881;AMYH02017882;AY358670;AY513610;BC051377;BC061884;BU620295;CH471080;DB470455;GM839075;NM_178819;XM_005273403 AAG33063;AAH51377;AAH61884;AAP21893;AAQ89033;AAS82774;CAD38930;CAT16184;EAW63253;EAW63254;EAW63255;NP_848934;Q86UL3;XP_005273460 Hs.355753 1655098;1680130;1707066;1718565;1854001 A004O41;RH122486;RH93524;SHGC-81288;STS-H81989 1-AGPAT 6;DKFZp586M1819;GPAT4;LPAAT-zeta;TSARG7 1-AGP acyltransferase 6;1-acyl-sn-glycerol-3-phosphate acyltransferase zeta;1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta);LPAATZ;OTTHUMP00000225814;acyl-CoA:glycerol-3-phosphate acyltransferase 4;glycerol-3-phosphate acyltransferase 4;glycerol-3-phosphate acyltransferase 6;lysophosphatidic acid acyltransferase zeta;testis spermatogenesis apoptosis-related protein 7 APPROVED protein-coding ENSG00000158669 HGNC:20880 12175 608143 VALIDATED 1606210 AGPAT9 1-acylglycerol-3-phosphate O-acyltransferase 9 This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012] 4 4 4 q21.23 81748096 81817458 + 84456886 84527028 + 83535733 83605875 + 6480464;6907045;8554872 12477932;12975309;14702039;15221005;16341674;16344560;17002884;17170135;19322201;20181984;21139048;21310131;21890473;21906983;22985252;23251661;24816145;8125298 84803 Q53EU6 AB075872;ABBA01063465;ABBA01063466;AC021192;AC096768;AK055749;AK223543;AMYH02009621;AMYH02009622;AMYH02009623;AMYH02009624;AY358100;BC006236;BC073136;BC090956;BM841009;CH471057;DA393801;DA673378;DQ324782;DQ345298;GM839137;HI574350;NM_001256421;NM_001256422;NM_032717;XM_005263314 AAH73136;AAH90956;AAQ88467;ABC55674;ABC70186;BAB71002;BAD38654;BAD97263;CAT16202;CBX47664;EAX05944;EAX05945;EAX05946;NP_001243350;NP_001243351;NP_116106;Q53EU6;XP_005263371 Hs.99196 1688967;2110559 MGC11324__7665;RH92406 1-AGPAT 9;AGPAT 10;AGPAT8;GPAT-3;GPAT3;HMFN0839;LPAAT-theta;MAG-1;MAG1;MGC11324;hGPAT3 1-AGP acyltransferase 9;1-acyl-sn-glycerol-3-phosphate O-acyltransferase 10;1-acyl-sn-glycerol-3-phosphate O-acyltransferase 9;1-acylglycerol-3-phosphate O-acyltransferase 8;OTTHUMP00000160987;OTTHUMP00000160988;acyl-CoA:glycerol-3-phosphate acyltransferase 3;endoplasmic reticulum associated GPAT;glycerol-3-phosphate acyltransferase 3;lung cancer metastasis-associated protein 1;lysophosphatidic acid acyltransferase theta;lysophosphatidic acid acyltransferase, theta APPROVED protein-coding ENSG00000138678 HGNC:28157 14417 610958 VALIDATED 3077880 AGPAT5P1 1-acylglycerol-3-phosphate O-acyltransferase 5 pseudogene 1 Y Y Y p11.2 2263 3254 - 3161849 3162850 + 3293808 3294809 + 646231 ABBA01069784;AC006152;NG_028688 5023047 sY3020 pseudo HGNC:37709 INFERRED 1348196 AGS1 Aicardi-Goutieres syndrome 1 ASSOCIATED WITH Aicardi-Goutieres syndrome (inferred); Chilblain lupus (inferred); Lupus Erythematosus, Systemic (inferred) 7240710 10827106 27003 HGNC:332 152700;192315;225750;610448 732011 AGPS alkylglycerone phosphate synthase This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008] 2 2 2 q31.2 171860003 172011409 + 178257471 178408564 + 177392743 177543836 + 1300366;1598794;1580863;6480464;7240710;8554872;8699517 7407223;9553082 10215861;10384985;10415121;10553003;10683770;11152660;11330037;12477932;1495418;16756494;17601746;18029348;18571506;19946888;20379614;20562859;20877624;20972266;21139048;21525035;21890473;21987572;21990100;22002062;22190034;22939629;23752268;23980144;24147044;24244333;2464339;24654937;24816145;25027693;3646870;4031664;7807941;8125298;9187299;9266692 8540 B7Z3Q4;B8ZZ81;O00116 AA832354;ABBA01062237;ABBA01062238;AC016762;AC019080;AC073834;AK296239;AK309714;AK314259;AK316240;AL359559;AMYH02005314;AY544121;BC141820;BQ007087;CH471058;CR749699;DC402978;NG_008968;NM_003659;Y09443 AAI41821;AAT11152;AAX93112;AAY14986;AAY24300;BAG36924;BAH12290;BAH14611;CAA70591;EAX11057;EAX11058;NP_003650;O00116 Hs.516543 1647688;2138837;2177671 RH65564;RH69481;WI-15756 ADAP-S;ADAS;ADPS;DKFZp762O2215;FLJ99755 ADHAPS;ALDHPSY;OTTHUMP00000163353;aging-associated gene 5 protein;aging-associated protein 5;alkyl-DHAP synthase;alkyldihydroxyacetonephosphate synthase, peroxisomal;alkylglycerone-phosphate synthase APPROVED protein-coding ENSG00000018510 HGNC:327 04337 600121;603051 REVIEWED 1312142 AGR2 anterior gradient 2 ENCODES a protein that exhibits dystroglycan binding; INVOLVED IN mucus secretion (ortholog); ASSOCIATED WITH Breast Neoplasms; Carcinoma in Situ; Carcinoma, Pancreatic Ductal; FOUND IN endoplasmic reticulum (ortholog); INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one; 2,3,7,8-tetrachlorodibenzodioxine 7 7 7 p21.3 16812569 16825043 - 16831437 16844738 - 16791813 16805114 - 2325658;2325659;2325661;6480464 16598187;19609859;19714807 10965104;12477932;12592373;12690205;12853948;12975309;15340161;15489334;15834940;15935701;16169070;16189514;16222343;16551856;16713569;17255364;17457305;17694278;18029348;18801625;18829536;18973922;19359471;19834055;20048076;20299546;20403997;20525245;20525379;20550709;20706999;20877624;20888340;20945500;21144054;21151833;21200134;21281432;21454516;21768879;21832049;21948970;22025610;22072305;22147918;22184114;22231555;22430137;22467239;22521076;22659167;22748473;22752467;22828706;22911164;22945649;22945652;23220234;23348903;23382691;23386860;23402259;23438482;23648065;23834814;24177142;24490732;24794000;24960290;8125298;9790916 10551 B5MC07;C9J3E2;H7C3Z9;O95994;Q4JM46;Q4JM47 ABBA01056635;AC073333;AF007791;AF038451;AF038452;AF087879;AF088867;AF115926;AK223067;AK296721;AK312942;AMYH02015307;AX231601;AY359009;BC015503;BF680655;BT007048;CH236948;CH471073;CS488906;DQ070893;FJ224307;NM_006408;XM_005249581 AAC77358;AAC82614;AAF22484;AAH15503;AAL54870;AAP22354;AAP35697;AAP97179;AAQ89368;AAY84773;AAY84774;AAY84775;AAY84776;ABM81571;ABM84751;ACI45999;BAD96787;BAG35784;BAG59310;CAC69703;CAM55980;EAL24283;EAW93682;EAW93683;NP_006399;O95994;XP_005249638 Hs.530009 2121127 GDB:1318074 AG-2;AG2;GOB-4;HAG-2;HEL-S-116;HPC8;PDIA17;XAG-2 OTTHUMP00000116014;OTTHUMP00000201755;OTTHUMP00000201757;anterior gradient 2 homolog;anterior gradient 2 homolog (xenopus laevis);anterior gradient homolog 2;anterior gradient protein 2 homolog;epididymis secretory protein Li 116;protein disulfide isomerase family A, member 17;secreted cement gland homolog;secreted cement gland protein XAG-2 homolog APPROVED protein-coding ENSG00000106541 HGNC:328 05896 606358 VALIDATED 1347516 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. A pseudogene of this gene is present on the Y chromosome. [provided by RefSeq, Aug 2014] 8 8 8 p23.1 6543403 6596547 + 6565878 6619024 + 6708357 6761503 + 1580863;6480464 11076863;11230166;11256614;11487472;12477932;14702039;15367102;15489334;15489336;16341674;16381901;16620771;17549794;19322201;20379614;20877624;21173190;21890473;21906983;21963094;23000965;24250222;24816145 55326 E5RH21;H0YAW1;H0YC22;Q9NUQ2 ABBA01007056;AF287957;AF375789;AK002072;AK021722;AK310545;AL136587;AL514578;AMYH02017290;BC023550;BC068519;BC080537;BM837881;CA414711;CH471153;CQ834440;CQ834528;KC877208;NM_018361 AAH23550;AAH68519;AAH80537;AAK54809;ABM84362;ABM87746;BAA92069;CAB66522;CAH05435;CAH05479;CAL37777;CAL37936;EAW80476;EAW80477;EAW80478;NP_060831;Q9NUQ2 Hs.624002 1644970;1695346;1756553;1850483;1852847;2107275;2163712 D8S1511;LPAAT-e__7430;RH18525;SHGC-143582;SHGC-64777;STS-N27164;WI-14718 1-AGPAT 5;1AGPAT5 1-AGP acyltransferase 5;1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon;1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon);LPAATE;OTTHUMP00000224507;lysophosphatidic acid acyltransferase epsilon APPROVED protein-coding HGNC:20886 12438 614796 REVIEWED 1350354 AGS2 Aicardi-Goutieres syndrome 2 ASSOCIATED WITH Aicardi-Goutieres syndrome (inferred); Alagille Syndrome (inferred); Hajdu-Cheney Syndrome (inferred) 7240710 497264 HGNC:31917 102500;610181;610205 1346339 AGTBP angiotensin binding protein 184 HGNC:334 736333 AGRP agouti related neuropeptide This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009] 16 16 16 q22 52024676 52025918 - 67516474 67517716 - 67482571 67483813 - 1625232;1331525;1300272;1625233;1580863;1357925;2314000;2311538;2314004;6480464;6484113;7240710 11179781;11344185;11554767;12213871;15054840;15118671;15189116;18001323 10318826;10366820;10371151;11196643;11326303;11487744;11602360;11747427;12056887;12153462;12477932;12815165;15121772;15489334;15546902;15597110;15927146;15978665;16130030;16280444;16314751;16320160;16568137;16820227;16904835;17041250;17180153;17197106;19058789;19077438;19285986;19602223;19770186;19942238;20164781;20404050;20468064;21531082;22477065;22492775;23118421;9119224;9311920;9354787;9724530;9751529;9892020;9893984 181 C6SUN5;O00253 ABBA01025438;AC009061;AF281309;AF314194;AMYH02032232;BC110443;BK006637;CH471092;DQ374394;NG_011482;NG_011501;NM_001138;U88063;U89485 AAB52240;AAB68621;AAI10444;AAK96256;AAL09457;ABC88473;DAA06531;EAW83137;NP_001129;O00253 Hs.104633 1678361;1794042;1794062;1794466;1794468;5017957;5493035 AGRP_s1;PMC310777P1;PMC310777P2;PMC314306P7;PMC314306P8;RH65050;UniSTS:483944 AGRT;ART;ASIP2;MGC118963 OTTHUMP00000174803;agouti related protein homolog;agouti-related protein 2289478 SLEP18_H APPROVED protein-coding ENSG00000159723 HGNC:330 09079 601665;602311 REVIEWED 1606873 AGRN agrin This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. [provided by RefSeq, Aug 2011] 1 1 1 p36.33 1597136 1631462 - 955503 991499 + 1020123 1056119 + 6480464;6907045;7240710;8549508;8699517;8554872 23032192 12070669;12073527;12270958;12477932;1326608;14702039;15146197;15340048;15691710;15694127;16037493;16106752;16487930;1659950;16713569;17170699;17628813;17640714;18025246;1851019;19166823;19194276;19199708;19598235;19631309;19940118;20301347;20471664;21078624;21139048;22205389;22307776;22423096;23000965;23443559;8205617;8617505;9151673;9405491;9417121;9652404 375790 H0Y5U1;O00468 AB191264;ABBA01016009;ABBA01016010;ABBA01016011;AF016903;AJ309206;AK021586;AK125197;AK128761;AL645608;AMYH02000074;AMYH02000075;AMYH02000076;AMYH02000077;AW119098;AW204172;BC004220;BC007649;BC034009;BC063620;BC084578;BE383214;BF569502;BF740118;BQ892267;CH471183;CK000983;CN314674;CN314678;NG_016346;NM_198576;S44195;U84406;XM_005244749;XM_006710633;XM_006710634;XM_006710635;XM_006710636;XM_006710637 AAB23327;AAB52917;AAC39776;AAH04220;AAH07649;AAH34009;AAH63620;AAH84578;BAD52440;BAG51039;CAC42508;EAW56293;NP_940978;O00468;XP_005244806;XP_006710696;XP_006710697;XP_006710698;XP_006710699;XP_006710700 Hs.273330;Hs.602356 CMSPPD;FLJ45064 OTTHUMP00000038465;agrin proteoglycan APPROVED protein-coding ENSG00000188157 HGNC:329 10550 103320;254300;615120 REVIEWED 1604981 AGR3 anterior gradient 3 ENCODES a protein that exhibits dystroglycan binding; FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; carmustine; coumestrol 7 7 7 p21.1 16879344 16901918 - 16899030 16921613 - 16859406 16881989 - 6480464 12477722;12477932;12592373;12690205;12975309;15340161;15489334;15935701;20219921;21451362;21988832;22361111;23386860;24747240;8889548 155465 B5MC62;H7C040;Q8TD06 ABBA01056636;AC098592;AMYH02015308;AX231609;AY069977;AY359065;BC058284;BG540617;BM984550;BU682778;CB242846;CH236948;CH471073;NM_176813;XM_005249627 AAH58284;AAL55402;AAQ89424;CAC69704;EAL24282;EAW93685;NP_789783;Q8TD06;XP_005249684 Hs.100686 5123716 RH66426 AG-3;AG3;BCMP11;HAG3;PDIA18;hAG-3 OTTHUMP00000158512;OTTHUMP00000201702;OTTHUMP00000201703;anterior gradient 3 homolog;anterior gradient homolog 3;anterior gradient protein 3 homolog;breast cancer membrane protein 11;protein disulfide isomerase family A, member 18 APPROVED protein-coding ENSG00000173467 HGNC:24167 16545 609482 VALIDATED 1314853 AGTPBP1 ATP/GTP binding protein 1 NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002] 9 9 9 q21.33 58731693 58927167 - 88161454 88356944 - 85546539 85742029 - 6480464;8554872 10470851;11083920;11884758;12477932;14702039;15302935;15385968;16713569;17043677;21139048;21890473;23242554 23287 B4DHX2;Q5VZW3;Q5VZW6;Q9UPW5 AB028958;ABBA01034038;ABBA01034039;ABBA01034040;ABBA01034041;AJ420433;AJ437018;AK001544;AK022562;AK023280;AK024698;AK295304;AK295774;AK299506;AL157882;AL451131;AL833359;AMYH02021144;AMYH02021145;BC060815;BX648366;CA449535;CH471089;DC334722;NM_001286715;NM_001286717;NM_015239;XM_005251847;XM_005251848;XM_005251849 AAH60815;BAA82987;BAA91749;BAB14100;BAB14505;BAG58284;BAG58598;BAG61460;CAD24587;CAH56158;CAH56222;EAW62694;EAW62695;EAW62696;EAW62697;EAW62698;EAW62699;NP_001273644;NP_001273646;NP_056054;Q9UPW5;XP_005251904;XP_005251905;XP_005251906 Hs.719980 1337041;1643790;1665388;1679914;1735938;1773180;1773182;2150328;2163491;2170789;2218198 A005K03;A006N11;AGTPBP1__4266;D9S1067E;D9S1865;D9S1981;D9S954;G20277;RH11900;RH65354;RH99172 CCP1;DKFZp686M20191;KIAA1035;NNA1 ATP/GTP-binding protein 1;OTTHUMP00000021580;OTTHUMP00000021581;carboxypeptidase-tubulin;cytosolic carboxypeptidase 1;nervous system nuclear protein induced by axotomy;nervous system nuclear protein induced by axotomy protein 1 homolog;soluble carboxypeptidase;tubulinyl-Tyr carboxypeptidase;tyrosine carboxypeptidase APPROVED protein-coding ENSG00000135049 HGNC:17258 08442 606830 VALIDATED 736336 AGXT alanine-glyoxylate aminotransferase This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 235480100 235491174 + 241808162 241818536 + 240868745 240879119 + 1302510;1300367;1300048;1580863;6480464;6907045;7240710;8554872;8699517 2039493;8101040 10394939;10453743;10862087;10960483;11085934;11562405;12169688;12477932;12777626;12899834;1301173;1349575;15253729;15327387;15365967;15802217;15849466;15911627;15956068;15961951;16169070;16712791;16912707;16971151;1703535;17110443;17460142;17495019;17696873;18289107;18448374;18468259;18492492;18782763;19155213;19451220;19479957;1961759;19887726;20016466;20020206;20056599;20059472;20133649;20178365;20208150;20301460;20308030;2045108;20462248;20713123;20734048;20877624;21103899;21612638;21988832;22018727;22198249;22201765;22529745;2253628;23229545;23589421;2363689;23810941;23956997;24012869;24055001;24205397;24344980;3418107;3709805;7813517;8034295;8507692;8906307;9053548;9192270 189 P21549;Q9UJX1 AA857309;AB292648;ABBA01006034;AC104809;AF191687;AF348451;AK292754;AK298400;AK298420;AK315331;AK316495;AMYH02006102;BC132819;CB156891;CH471063;D13368;M61763;NG_008005;NM_000030;S71388;X53414;X56092;X74208;X74209 AAA51680;AAB20488;AAF05604;AAI32820;AAK30157;AAY24168;BAA02632;BAF46862;BAF85443;BAG37731;BAH12776;BAH12784;BAH14866;CAA37493;CAA39572;EAW71221;EAW71222;NP_000021;P21549 Hs.144567 1341596;1778065;5015961;5024756 D14S779;D15S1477;RH68691;RH80030 AGT;AGT1;AGXT1;PH1;SPAT;SPT;TLH6 L-alanine: glyoxylate aminotransferase 1;OTTHUMP00000164504;alanine--glyoxylate aminotransferase;hepatic peroxisomal alanine:glyoxylate aminotransferase;serine--pyruvate aminotransferase;serine-pyruvate aminotransferase;serine:pyruvate aminotransferase APPROVED protein-coding ENSG00000172482 HGNC:341 05048 259900;604285 REVIEWED 619558 AGTR2 angiotensin II receptor, type 2 The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked mental retardation. [provided by RefSeq, Jan 2010] X X X q22-q23 115832555 115836822 - 115301958 115306225 + 116170705 116174972 + 1566502;1581855;1580863;1581825;1582118;1582124;1300276;1300274;1300275;2313550;2313551;2313554;2325641;5129169;5147457;5129175;5147454;5129179;6480464;6903848;6903849;6903850;6903863;6903868;6903284;6903853;6903855;6903857;6903860;6903861;6903866;6903882;6903847;6903859;6903843;6903844;6903851;6903873;6903867;6903870;6903900;6903283;6903875;6903845;6903846;6903874;6903872;1303381;6903280;6892717;6903865;6903372;6903905;6907045;7240710;8549482;8549486;7401256 10024874;10977869;11295571;11819209;11916627;11924718;12089373;12089445;12172324;12187255;12495295;14657020;14982483;15153562;15158138;15470205;15793237;15930094;16133060;16380540;16725227;18158356;18327089;18328310;18463192;18500976;18565281;18768398;19080339;19139720;19212419;19246705;19680135;2;20042458;20149750;20631980;21040717;21102591;21189405;21303825;21357516;21900645;21963897;22113494;22120037;22184331;22357959;22569153;22920387;22949090;7477267;9815151 10406457;10710290;11053482;11055978;11081769;11153734;11200871;11324803;11446495;11459796;11544438;11709400;11733189;11819093;11880254;12133421;12453540;12464615;12477932;12522467;12531525;12544508;12579398;12660887;12746399;12800945;12881481;12911547;12924622;12925562;14598163;14627490;14764974;14987254;15013293;15013322;15013333;15117835;15123239;15123577;15123706;15221785;15385810;15458433;15489334;1550596;15638358;15710780;15772651;15914614;16080803;16109806;16112405;16283672;16289034;16344560;16395664;16522324;16550310;16598200;16609364;16944335;16954165;17000928;17159079;17159080;17160213;17261659;17270098;17336987;17393691;17433630;17499413;17515833;17522061;17548686;17620959;17630322;17653210;17707359;17944121;18049304;18059164;18188697;18205097;18240029;18254975;18296263;18331441;18344519;18404604;18417209;18437528;18488444;18534055;18577758;18594540;18660489;18848837;19023273;19074439;19074441;19082699;19155782;19194560;19274051;19288324;19308748;19344625;19357319;19397700;19404281;19509012;19524223;19578796;19628789;19716087;19759061;19779016;19781541;19820429;19861345;19861347;19861349;19861351;19861352;19861353;19913121;19948975;19959718;19959996;19996275;20181281;20237496;20300066;20304486;20371166;20467270;20486282;20592051;20606419;20628086;20714875;20732682;20837730;20844184;21163866;21436209;21602797;21671168;21740964;21850060;21937042;22162314;22407459;22710646;22869520;22987376;23122839;23176211;23255326;23406015;24385301;24391821;24440243;24674681;24917146;2834384;7477266;7719706;7733925;7790004;7945336;7999093;8185599;8502225;8552595;8663053;8957548;9099917;9884335 186 AAB34100;P50052;Q6UVH2 ABBA01049276;ABBA01049277;AI911273;AK313927;AL732602;AMYH02040296;AY322542;AY324607;AY536522;BC095504;CH471234;CR541969;CR738498;DA538369;L34579;NG_016326;NM_000686;U10273;U15592;U16957;U20860;U27478;X87722;X87723 AAA50762;AAA61794;AAA67753;AAA84900;AAA85851;AAA98990;AAB34100;AAH95504;AAP72969;AAP84355;AAS45437;BAG36648;CAA61022;CAG46767;EAW51502;NP_000677;P50052 Hs.405348 1743601;1792538;2122040;2218200;5106122 AGTR2;AGTR2__4208;GDB:360300;PMC153509P1;STS-U20860 AT2;ATGR2;MRX88 OTTHUMP00000023878;angiotensin II type-2 receptor;type-2 angiotensin II receptor APPROVED protein-coding ENSG00000180772 HGNC:338 02071 300034 REVIEWED 1350151 AGTRAP angiotensin II receptor-associated protein This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interacts with the angiotensin II type I receptor and negatively regulates angiotensin II signaling. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 10908147 10923614 + 11796142 11810828 + 11736085 11750771 + 2314353;2314351;6480464 17875818;18725581 10358057;11162453;11733189;12107413;12477932;12960423;14559250;14985364;15489334;15668245;15757644;16189514;16710414;18029348;19060904;19430483;19805740;19913121;20018811;20541774;20628086;21139048;21423001;21728994;23902639;24722188 57085 D6RB40;D6RBK6;Q6RW13;X6R9H3 ABBA01003057;ABBA01003058;AF165187;AF312374;AI741916;AK290042;AL953897;AMYH02000300;AY488088;BC011946;BC017328;BE782705;BI117521;BQ672962;CA866314;CD674964;CH471130;NM_001040194;NM_001040195;NM_001040196;NM_001040197;NM_020350 AAF89547;AAH17328;AAL26806;AAR25556;ABM83545;ABM86785;BAF82731;EAW71702;EAW71703;EAW71704;EAW71705;NP_001035284;NP_001035285;NP_001035286;NP_001035287;NP_065083;Q6RW13 Hs.464438 2123231;2216998 AGTRAP_3661;SHGC-32094 MGC29646 AT1 receptor-associated protein;ATI receptor-associated protein;ATRAP;OTTHUMP00000002269;OTTHUMP00000002270;OTTHUMP00000002271;OTTHUMP00000002272;OTTHUMP00000221109;OTTHUMP00000221110;OTTHUMP00000221111;angiotensin II, type I receptor-associated protein;type-1 angiotensin II receptor-associated protein APPROVED protein-coding ENSG00000177674 HGNC:13539 16379 608729 REVIEWED 68977 AGTR1 angiotensin II receptor, type 1 Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Multiple alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Jul 2012] 3 3 3 q24 146826000 146871131 + 148415658 148460790 + 148697871 148743003 + 1566498;1566499;1580863;737778;629553;1598885;1582124;1331525;1581825;1598878;1581847;1582152;737777;1601149;1601146;1601148;1601150;1601152;1601151;737809;737810;2292665;1642975;5129174;5129176;5133683;5147455;5129169;5147450;5129194;5129177;5129198;5147453;5129165;5129164;5147454;5147451;5147452;5129185;5147460;5129168;5147456;5147457;5129175;5129179;2316188;6480464;6903861;6903863;6903866;6903851;6903857;6903849;1303381;6903859;6903864;6903280;6903284;6907045;7240710;8548869;8548866;8549482;8548894;8548897;8548891;8549458;8549486;8548895;8548864;7364969;6903855;8554872;8699517 10639182;10977869;10994756;11100981;11295571;11451295;11819209;11877468;12077487;12089373;12172324;12446719;12476891;12495295;12832734;12975417;14559250;14982483;15118671;15153562;15612584;15930094;16061119;16105049;16109907;16116425;16141358;16519598;16565309;16725227;16796846;17211857;17877756;18421211;18451329;18500976;18829859;19080339;19332265;2;20042458;20080265;20560294;20621762;20723410;20886512;21040717;21078800;21102591;21282555;21303825;21319597;21326341;21346625;21357516;21367774;21963897;22089474;22120037;23487168;23828384;7724593;8181542;9287353;9456365;9466969;9622148;9857918 10510297;10972591;10993080;11079515;11081769;11082147;11085286;11106322;11110972;11122322;11136175;11137090;11152457;11158334;11208365;11213892;11226259;11246471;11250978;11279203;11288810;11289708;11317203;11324803;11330506;11336183;11341749;11354780;11355019;11359462;11444146;11484170;11531970;11575217;11577832;11579203;11593098;11682489;11687736;11688760;11689223;11692158;11696658;11696688;11707217;11707686;11709400;11709801;11711524;11733189;11752456;11774217;11775887;11776100;11793101;11793845;11798574;11799082;11852019;11865575;11881039;11882570;11903322;11909563;11910300;11910301;11913624;11923700;11924723;11926202;11938025;11967817;11999641;12006574;12031955;12034692;12045255;12048678;12095411;12117739;12127057;12133421;12133518;12187084;12358135;12390711;12394950;12425365;12436935;12446192;12446598;12450401;12454231;12460700;12473660;12477932;12482634;12511523;12513040;12514663;12522132;12522467;12534336;12544439;12544508;12556231;12579398;12579405;12591176;12593997;12597535;12624609;12627871;12627873;12631360;12660887;12694873;12694874;12695419;12716844;12728975;12747597;12778448;12842881;12860335;12865608;12891302;12897464;12898858;12904590;12925562;12932862;12950120;12960024;1378723;14502296;14508191;14521778;14529856;14530292;14569094;14597852;14610337;14627489;14654250;14657020;14730619;14749533;14764974;14765837;14767013;14987254;14997233;15013293;15013322;15013333;15017542;15031629;15042429;15045574;15062885;15080371;1508224;15097234;15108186;15117835;15126556;15130920;15153745;15193870;15193960;15196067;15212666;15221785;15238568;15269283;15295089;15326089;15332573;15353577;15355986;15364762;15376229;15385810;1543512;15452107;15452121;15454732;15458433;15480097;15480098;15492474;15496309;15498133;15498791;15498833;15504143;15505642;1550596;15543360;15545271;15545843;15563875;15580058;15590451;15611106;15628301;15635042;15662219;15673342;1567413;15676177;15683714;15694792;15718424;15718497;15743363;15775779;15785027;15797649;15824464;15848528;15863668;15890659;15905345;15914614;15923814;15934435;15946912;15949885;16006956;16012192;16047641;16076618;16088850;16108768;16109085;16109807;16112405;16152821;16188060;16189286;16231503;16271939;16274774;16276415;16294326;16314886;16339777;16344560;16364240;16369102;16384824;16395664;16396964;16398146;16434990;16468060;16492203;16498788;16504375;16521052;16522324;16525943;16525944;16530863;16550310;16565729;16603315;16609364;16611642;16615274;16636899;16651460;16672053;16684954;16685579;16691016;16736244;16741369;16741935;16754659;16775386;16787961;16790149;16805920;16823505;16831865;1683828;16876684;16893516;16911325;16923768;16954165;16998258;17008309;17024648;17051401;17069818;17097490;17118372;17118790;17118791;17143591;17146658;17159080;17160213;17165166;17166941;17173513;17190732;17207964;17211247;17220293;17223428;17227479;17229913;17256744;17261659;17270098;17274465;17285438;17293603;17298481;17299793;17325239;17326392;17327458;17334527;17336987;17375465;17378368;17393691;17399955;17429042;17433630;17446269;17446655;17486447;17487826;17499413;17519002;17520398;17522061;17524880;17541127;17546276;17557241;17569300;17586411;17586781;17595257;17617024;17668390;17702963;17703434;17710578;17719203;17725712;17726226;17728799;17785770;17851694;17903694;17914507;17921131;17921431;17921816;17984617;17988266;17992634;17993594;18006496;18026817;18059164;18069999;18088317;18091746;18158351;18172057;18188697;18202720;18205094;18231736;18239157;18239384;18240029;18245065;18260840;18261537;18296263;18308844;18328310;18331441;18347611;18348177;18364271;18413189;18413222;18413308;18414380;18417209;18432064;18434621;18446309;18464745;18464932;18475152;18488444;18491423;18497458;18513389;18534055;18550062;18550936;18551012;18563171;18565507;18575418;18577758;18594050;18594540;18612202;18622242;18633425;18637188;18641512;18660489;18676046;18679149;18698212;18700314;18703536;18719072;18767410;18787507;18787943;18800139;18830250;18855530;18856058;18927546;18953568;18971559;18974842;18985387;19014923;19017652;19021695;19023134;19023273;19026696;19040540;19056482;19057513;19059460;19064815;19067809;19082699;19086053;19102886;19108684;19110485;19112833;19131662;19145770;19162241;19162259;19166692;19178574;19185300;19218102;19236533;19238444;19242491;19245071;19247266;19253715;19254215;19263529;19274051;19274077;19276075;19282863;19286758;19286759;19288324;19302184;19304510;19308748;19309260;19327134;19330904;19341158;19397700;19408837;19418628;19420105;19424575;19461648;19463113;19479237;19487683;19503013;19509012;19520069;19524223;19546528;19559392;19578796;19587357;19593696;19620885;19635801;19680137;19681973;19696781;19706169;19713412;19716087;19729965;19752885;19755917;19779016;19779330;19779464;19782519;19811349;19833117;19853701;19913121;19929134;19940150;19948975;19954723;19956635;19997001;20026870;20027122;20066125;20108069;20118823;20137558;20142115;20161734;20181817;20223791;20223792;20300066;20302034;20304486;20308035;20351714;20361261;20452482;20458733;20465154;20478903;20486282;20525211;20536507;20537417;20537563;20558762;20559404;20563831;20565774;20570668;20577119;20580725;20594303;20602615;20606419;20628086;20659024;20667857;20673868;20703234;20708651;20714875;20731749;20732682;20816596;20824505;20837730;20838438;20851291;20854100;20854388;20856803;20861505;20864943;20943774;20945417;20966899;20975235;20978160;21052031;21086617;21152433;21162207;21163122;21173159;21176342;21223556;21234519;21234654;21316998;21330421;21332426;21412239;21436209;21449976;21463477;21502318;21525005;21570644;21596033;21600887;21607620;21628354;21633717;21636204;21638051;21641389;21670585;21671168;21740964;21771600;21791198;21808598;21846682;21856918;21937042;21970881;21986569;22021115;22147663;22237156;22282354;22291018;22297600;22323719;22362742;22387727;22392878;22407459;22433249;22475523;22484478;22555639;22561363;22569962;22581182;22590832;22613986;22645060;22647632;22703619;22719026;22758920;22782431;22939041;23081748;23145508;23176211;23210602;23223579;23273598;23326349;23386604;23389452;23451270;23480300;23480670;23484035;23505107;23536940;23564192;23567951;23585396;23592774;23603059;23615648;23681235;23694962;23700157;23745680;23755207;23783021;23880184;23902432;23942655;23971628;24015270;24020479;24055489;24068433;24093454;24145933;24167376;24202179;24214591;24218433;24244341;24255721;24385301;24400721;24627317;24654435;24692224;24727057;24815690;24875414;7491117;7746328;7792812;7980575;8021009;8135787;8166699;8185574;8662816;8753867;9074770;9211925;9468203;9516477;9606715;9766385 185 D3DNG8;P30556;Q53YY0;Q6NUP5 ABBA01058952;AC024897;AF245699;AI016286;AI240900;AK291541;AMYH02007877;AV651073;AY221090;AY436325;BC022447;BC068494;CH471052;D13814;DA649921;EU332837;M87290;M91464;M93394;NG_008468;NM_000685;NM_004835;NM_009585;NM_031850;NM_032049;S70433;S77410;U07144;X65699;Z11162 AAA35535;AAA35569;AAA58370;AAB34644;AAF70464;AAH22447;AAH68494;AAO65968;AAR03503;ABM83314;ABM86527;ABY87526;BAA02968;BAF84230;CAA46621;CAA77513;EAW78905;EAW78906;EAW78907;EAW78908;EAW78909;NP_000676;NP_004826;NP_033611;NP_114038;NP_114438;P30556 Hs.477887;Hs.744837 1743075;1744251;1744477;1761909;1771995;1794290;1794792;2129334;2144495;2161925;2191109;5123332 GDB:251663;GDB:438967;GDB:455679;MARC_14779-14780:1010671130:1;PMC310924P4;PMC55900P1;RH11116;RH17842;RH48548;SGC38226;SHGC-12732;SHGC-145843 AG2S;AGTR1A;AGTR1B;AT1;AT1AR;AT1B;AT1BR;AT1R;AT2R1;AT2R1A;AT2R1B;HAT1R OTTHUMP00000215600;OTTHUMP00000215601;OTTHUMP00000215602;angiotensin II type-1 receptor;angiotensin receptor 1;angiotensin receptor 1B;type-1 angiotensin II receptor;type-1B angiotensin II receptor APPROVED protein-coding ENSG00000144891 HGNC:336 00107 106165;145500;267430 REVIEWED 731070 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008] 1 1 1 q42.2 204104291 204116358 - 230838269 230850336 - 230702523 230714590 - 1581742;1582435;1581938;1566491;1566492;1582118;1581847;1300394;1582152;1582124;1582105;1582434;1331525;1300393;1300273;1601142;1601141;1601132;1580863;1566511;1601130;1601134;1601135;1601136;1601138;1601139;1601140;1601143;1566452;5129185;5129160;5129176;5129195;5129162;5129167;5129180;5129191;5129198;5129174;5129175;1358275;5129166;6480464;6907045;7240710;8549470;8548889;8548866;8549466;8548863;8548860;8548892;8549469;8549482;8548893;8548894;8548902;8549465;8548900;8548901;8549476;8548862;8548897;8549480;8548861;8548870;8548874;8549458;8549461;8549467;8549486;8548895;8548871;8548872;8548868;8548885;8142344;7401256;8548898;8548886;8554872;8699517 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183 B0ZBE2;B2R5S1;P01019 AB209769;ABBA01033026;AK222798;AK222815;AK293507;AK303755;AK307978;AK312291;AL158214;AL512328;AMYH02002881;AU128714;AW128887;AY436323;BC011519;BF338744;BT006851;CH471098;DC412932;EU326304;K02215;M24689;M69110;NG_008836;NM_000029;S78529;S78530;T97863;W01494;X15324 AAA51679;AAA51731;AAA52282;AAD14287;AAD14288;AAH11519;AAP35497;AAR03501;ABM81942;ABM85122;ACA05910;BAD93006;BAD96518;BAD96535;BAG35218;BAG56991;BAG64725;CAA33385;EAW69918;EAW69919;NP_000020;P01019 Hs.19383 1681855;1689284;1694916;1716617;1794284;1856336;2117306;2160872;2179161;2181712;2218982 AGT_4206;G34823;G44347;PMC310924P1;RH11650;RH11822;RH121565;RH76317;RH91381;STS-H64380;WI-8965 ANHU;FLJ92595;FLJ97926;SERPINA8 OTTHUMP00000035878;alpha-1 antiproteinase, antitrypsin;angiotensin I;angiotensin II;angiotensinogen;angiotensinogen (serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 8);pre-angiotensinogen;serine (or cysteine) proteinase inhibitor;serpin A8 APPROVED protein-coding ENSG00000135744 HGNC:333 00106 106150;145500;267430 REVIEWED 1352542 AGXT2 alanine--glyoxylate aminotransferase 2 The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. [provided by RefSeq, Dec 2008] 5 5 5 p13 34880411 34930420 - 34998206 35048293 - 34998101 35048188 - 1580863;6480464;6907045;8554872 12477932;14702039;15240345;15342556;15956068;16344560;20018850;20877624;21572414;21931564;21988832;23023372;24159190;7592550;8125298 64902 Q9BYV1 AB193309;ABBA01039261;AC010368;AJ292204;AK055732;AK055757;AK223128;AK223144;AK223375;AK296109;AK314691;AMYH02011154;AMYH02011155;BC144268;BC150603;BP277413;CH471119;DA633665;KC876957;NM_031900;XM_005248337;XM_005248338;XM_005248340 AAI44269;AAI50604;AAI56125;AAI56920;BAD66662;BAD96848;BAD97095;BAG37242;BAG51563;BAG51568;BAH12259;CAC24841;EAW55912;NP_114106;Q9BYV1;XP_005248394;XP_005248395;XP_005248397 Hs.34494 1686997;1751383;1778058;2120132;2156050;2160971 D5S2573;RH17937;RH78189;RH99171;SGC33361;SHGC-105268 AGT2;beta-ALAAT II (R)-3-amino-2-methylpropionate--pyruvate transaminase;DAIBAT;OTTHUMP00000115997;OTTHUMP00000221043;alanine--glyoxylate aminotransferase 2, mitochondrial;beta-alanine-pyruvate aminotransferase APPROVED protein-coding ENSG00000113492 HGNC:14412 10638 612471 REVIEWED 7207657 AHCYP1 adenosylhomocysteinase pseudogene 1 10 10 10 q11.22 42701899 42703173 - 47594379 47595653 + 46223143 46224417 + 340844 ABBA01033529;AL450388;AMYH02022869;NG_022175 pseudo HGNC:44993 INFERRED 7205519 AHCYP2 adenosylhomocysteinase pseudogene 2 9 9 9 q33.2 94131222 94132512 + 123482951 123484241 + 120720673 120721963 + 392387 ABBA01016245;AL138836;AMYH02021571;NG_021677 pseudo HGNC:44994 INFERRED 1605826 AHCTF1P1 AT hook containing transcription factor 1 pseudogene 1 2 2 2 q24.2 155965950 155974538 - 162355578 162364413 - 161499067 161507902 - 14702039;21963094 285116 Q96M44 ABBA01004887;AC009487;AK057394;AMYH02005089;NR_077058 BAB71468 Hs.470435 1676802 RH26330 AHCTF1P;ELYS-like APPROVED pseudo HGNC:24620 VALIDATED 731745 AHCY adenosylhomocysteinase S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 20 20 20 q11.22 29617551 29649079 - 32868071 32899608 - 34280265 34311802 - 1598896;1598897;1300368;1598898;730275;1601153;1580863;1300048;6480464;6907045;7242932;7240710;7242425;7242426;8699517;8554872 11123369;11575573;11741948;12208805;15024124;16815886;20814827;2292587;23073625 10933798;11780052;12063172;12069606;12369977;12477932;12590576;14702039;15161933;15241484;15489334;16196087;16344560;17081065;17097637;17164794;17172447;17353931;17447732;17688412;17892301;18211827;18393535;18427977;18522500;18635682;18683034;18713839;18769049;18781797;18978678;19048631;19056867;19135240;19161160;19619139;19683694;19913121;20308539;20360068;20391533;20392501;20458436;20615890;20628086;20634891;21044950;21081666;21110914;21139048;21145461;21319273;21853274;21890473;21906983;21963094;21987572;21988832;22023331;22190034;22268729;22304920;22323290;22505724;22863883;22939629;23000965;23079506;24163370;24337577;24654937;24816145;25027693;2574561;2596825;309884;6580258;6586634;7079734;715439;7608178;7786017;9586999 191 P23526 ABBA01019205;ABBA01019206;AK097610;AK290422;AK300014;AK309204;AK316180;AL356299;AMYH02036970;AMYH02036971;BC010018;BC011606;BC114924;BE785593;BT006697;CH471077;DB043400;DC301059;DC413105;KF456881;KF456885;M61831;M61832;NG_012630;NM_000687;NM_001161766;XM_005260316;XM_005260317 AAA51681;AAA51682;AAH10018;AAH11606;AAI14925;AAP35343;ABM82627;ABM84656;ABM86323;ABM92186;BAF83111;BAG53495;BAG61829;BAH14551;EAW76279;EAW76280;EAW76281;NP_000678;NP_001155238;P23526;XP_005260373;XP_005260374 Hs.388004 1654636;1695036;1854331;2109027;2125055;5117174 AHCY__4267;D20S1115;G44732;GDB:451613;STS-M61832;STS-R64115 SAHH OTTHUMP00000030684;S-adenosyl-L-homocysteine hydrolase;S-adenosylhomocysteine hydrolase;adoHcyase APPROVED protein-coding ENSG00000101444 HGNC:343 01621 180960;613752 REVIEWED 1603679 AHCTF1 AT hook containing transcription factor 1 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN nuclear pore complex assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN chromatin; condensed chromosome kinetochore; extracellular vesicular exosome; INTERACTS WITH arsane; arsenic atom; atrazine 1 1 1 q44 220298863 220391306 - 247002400 247094726 - 246839098 246931978 - 6480464;8554872 11952839;12477932;14702039;15489334;16565220;16964243;17081983;17098863;18029348;18854154;19056867;19454010;19471022;19596686;20360068;21890473;21906983;21963094;22412018;22505724;22555603;22586326;22955883;23000965;24457600 25909 C9J5C5;H7C4S1;Q8WYP5 AB059277;ABBA01031773;ABBA01031774;AC113174;AF173978;AK091364;AK091510;AK095398;AK122844;AL080144;AL832213;AL833491;AMYH02003125;AMYH02003126;AY157619;BC012307;BC030564;BC047361;CH471148;NM_015446;XM_006711758;XM_006711759;XR_426916 AAH12307;AAI56055;AAN65622;AAQ13621;BAB78516;BAG52342;BAG53044;BAG53757;CAB45737;EAW77165;EAW77166;EAW77167;EAW77168;NP_056261;Q8WYP5;XP_006711821;XP_006711822 Hs.300887 1676802;1715483 RH120984;RH26330 DKFZp434N093;ELYS;MST108;MSTP108;TMBS62 ELYS transcription factor like protein TMBS62;ELYS transcription factor-like protein TMBS62;OTTHUMP00000038418;OTTHUMP00000038419;embryonic large molecule derived from yolk sac;putative AT-hook-containing transcription factor 1 protein-coding ENSG00000153207 HGNC:24618 09935 610853 VALIDATED 1320280 AHCYL1 adenosylhomocysteinase-like 1 The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 1 1 1 p13.2 108774307 108813363 + 110527387 110566364 + 109984765 110023742 + 1580863;6480464;6907045 10070969;11904675;12477932;12525476;12878157;15489334;15951569;16710414;16754674;16769890;19019082;19220705;19322201;19615732;20584908;21139048;21242704;21317537;21906983;21956116;21963094;22012331;22190034;22505724;22826361;22863883;22939629;22990118;23431199;23455922;23602568;23667531;23769829;24035498;24518248;24816145;7782076;8619474;9110174 10768 O43865;Q9UI76 AA427939;AA865152;ABBA01068385;AF035319;AF090905;AF315687;AK131563;AK303690;AK308080;AK313392;AK316110;AL049954;AL772411;AMYH02001718;BC003631;BC007576;BC010681;BC016942;BC065254;BC095476;BC110896;BC111563;BK005417;BK005418;BQ774807;CF456195;CH471122;DC328766;DC329490;FB775494;NG_029182;NM_001242673;NM_001242674;NM_001242675;NM_001242676;NM_006621;U82761 AAB88189;AAC01960;AAF24028;AAH03631;AAH07576;AAH10681;AAH16942;AAH65254;AAH95476;AAI10897;AAI11564;AAI40415;AAI46493;AAL26869;ABM81947;ABM85127;ACE86597;ACE87278;BAD18696;BAG36190;BAG64680;BAH14481;CAB43223;CAH70965;CAH70966;CAV30704;DAA05762;DAA05763;EAW56422;EAW56423;EAW56424;EAW56425;EAW56426;EAW56427;NP_001229602;NP_001229603;NP_001229604;NP_001229605;NP_006612;O43865 Hs.743973 1688388;2153368;2161112;5113230 RH101839;RH65027;RH93356;SHGC-75272 DCAL;PPP1R78;PRO0233 DC-expressed AHCY-like molecule;IRBIT;OTTHUMP00000013376;OTTHUMP00000013377;S-adenosyl homocysteine hydrolase homolog;S-adenosyl-L-homocysteine hydrolase 2;S-adenosylhomocysteine hydrolase-like 1;S-adenosylhomocysteine hydrolase-like protein 1;XPVKONA;adoHcyase 2;dendritic cell expressed AHCY-like protein;inositol 1,4,5-trisphosphate receptor-binding protein;putative adenosylhomocysteinase 2 APPROVED protein-coding ENSG00000168710 HGNC:344 07613 607826 REVIEWED 7207589 AHCYP3 adenosylhomocysteinase pseudogene 3 2 2 2 q12.1 99212660 99213937 - 105011461 105012738 - 104395003 104396280 - 402093 ABBA01073881;AC068535;AMYH02004458;NG_021515 pseudo HGNC:44995 INFERRED 7205585 AHCYP6 adenosylhomocysteinase pseudogene 6 11 11 11 q14 82877417 82878708 + 85568044 85570200 + 85857001 85859157 + 100419714 ABBA01017332;AP000974;NG_024541 pseudo HGNC:44998 INFERRED 7205584 AHCYP4 adenosylhomocysteinase pseudogene 4 2 2 2 q22.1 133370593 133371904 - 139659006 139660317 - 138901436 138902747 - 129560 ABBA01028117;AC023468;AMYH02004878;NG_021526 pseudo HGNC:44996 INFERRED 7205587 AHCYP7 adenosylhomocysteinase pseudogene 7 15 15 15 q21.2 27602135 27603436 + 50709580 50710881 + 50417383 50418684 + 645486 ABBA01039113;AC012170;AMYH02030403;NG_022129 1668555;1697408;1770867;1851542;1853907;2114737;2170006;7183682 D15S1088;D15S1309;D15S957;D15S960;RH102204;RH78221;SHGC-57070 pseudo HGNC:44999 INFERRED 1601771 AHCYL2 adenosylhomocysteinase-like 2 The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 7 7 7 q32.1 123661585 123866795 + 128864855 129070052 + 129225014 129430211 + 6480464;6907045;8554872 10048485;12477932;15489334;16344560;16865262;19615732;20694014;21139048;21906983;21963094;22190034;22228203;22505724;22890011;23455922;23602568 23382 C9JZV7;C9K0S0;H0Y8B3;Q96HN2 AB020635;ABBA01057635;ABBA01057636;ABBA01057637;ABBA01057638;ABBA01057639;ABBA01057640;ABBA01057641;AC009244;AC011005;AC083866;AC093149;AK025372;AK295851;AK316073;AMYH02016730;AMYH02016731;AMYH02016732;BC008349;BC024325;BG700017;CH236950;CH471070;DA429263;DA890615;NG_029180;NM_001130720;NM_001130722;NM_001130723;NM_015328;XM_005250237 AAH08349;AAH24325;BAA74851;BAG58657;BAH14444;EAW83716;EAW83717;NP_001124192;NP_001124194;NP_001124195;NP_056143;Q96HN2;XP_005250294 Hs.600789 1646958;1659537;1674057;1676748;1680393;1739195;1849864;2139049;2139105;2154162;2174629 D7S1541;D7S2962;D7S2964;D9S1647;GDB:1318262;IB809;RH27244;RH66343;RH69923;SHGC-31135;WI-20538 ADOHCYASE3;FLJ21719;KIAA0828 OTTHUMP00000212356;OTTHUMP00000212357;OTTHUMP00000212358;OTTHUMP00000212359;OTTHUMP00000214495;S-adenosyl-L-homocysteine hydrolase 3;S-adenosylhomocysteine hydrolase-like 2;putative adenosylhomocysteinase 3 APPROVED protein-coding ENSG00000158467 HGNC:22204 11113 REVIEWED 7205583 AHCYP5 adenosylhomocysteinase pseudogene 5 2 2 2 q32.3 190203118 190204356 - 196447517 196448755 - 195582793 195584031 - 391470 ABBA01062446;AC064834;AMYH02005499;NG_021544 pseudo HGNC:44997 INFERRED 1349401 AHDS Allan-Herndon-Dudley syndrome 193 HGNC:345 731071 AHR aryl hydrocarbon receptor This gene encodes a ligand-activated transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Its ligands included a variety of aromatic hydrocarbons. [provided by RefSeq, Jul 2008] 7 7 7 p15 17318278 17365781 + 17338276 17385775 + 17298652 17346151 + 1580863;1300278;1300277;634668;2325664;6480464 10639156;12107286;12203118;12586752 10048154;10395741;10428779;10471301;10497241;10620335;10644764;10739168;10903152;10986286;10999956;11013261;11032419;11114727;11207035;11259606;11259609;11259615;11393538;11408954;11425848;11505220;11689007;11698344;11742002;11756572;11768231;11782478;11805098;11835227;11866883;12024042;12065584;12139968;12181450;12200463;12213388;12213390;12215427;12237327;12477932;12480531;12520072;12566446;12592376;12597446;12612060;12637498;12690205;12730383;12774124;12837759;12852830;12853948;12917420;14550747;14560034;14634838;14973392;14978034;14985336;15026081;15069065;15123621;15190133;15342792;15474075;15489334;15499202;15572374;15641800;15681594;15728486;15758562;15774926;15837795;15863442;15897893;15917307;15964790;16084889;16091746;16103451;16109480;16153594;16257957;16337337;16403814;16480812;16481407;16538170;16582008;16619036;16675542;16762319;16891617;16922649;16952353;16985026;16985033;17053541;17140257;17174437;17200336;17209571;17223712;17244640;17311112;17392787;17429315;17490615;17498780;17502624;17511620;17552871;17559847;17596880;17642299;17823287;17823304;17900530;17963696;18029348;18037991;18059014;18065768;18259752;18302886;18303622;18358233;18359762;18433817;18483242;18510611;18515748;18524851;18628420;18632753;18636124;18676680;18677463;18708059;18708364;18818557;18923163;18990750;19013013;19018768;19027718;19034627;19114668;19138996;19158084;19170196;19255421;19333233;19340314;19356061;19356098;19358281;19360915;19371443;19380484;19390533;19415745;19447902;19460354;19463884;19465936;19535631;19536146;19538249;19556287;19574409;19592671;19625176;19651607;19690180;19692168;19726680;19736056;19755661;19789301;19815066;19821039;19917880;19941898;20000589;20032195;20044593;20053997;20064835;20130088;20140206;20146706;20171126;20237496;20301892;20354149;20395535;20401977;20453000;20460431;20511231;20619336;20634891;20676092;20709182;20804740;20823264;20878756;20973933;21072210;21081473;21205295;21262915;21316925;21357676;21374063;21441140;21462134;21486221;21490707;21600206;21613234;21627536;21640702;21689841;21693764;21742528;21804081;21828262;21878739;21886157;21906983;21963094;21976023;21987572;21988832;21996739;22052373;22053597;22071320;22123295;22138065;22235307;22273977;22296396;22311706;22361730;22388733;22486318;22495716;22495806;22539616;22553215;22596188;22628113;22649193;22728919;22754483;22759865;22761424;22840970;22854411;22903824;22915253;23022626;23030067;23037589;23141164;23208493;23228475;23229511;23288144;23317198;23370907;23382382;23419638;23430108;23439269;23452206;23492908;23528250;23547017;23583297;23604401;23614276;23614742;23636172;23703535;23723449;23733406;23768840;23802610;23810773;23831623;23846855;23915234;23994556;24023334;24078229;24086407;24091107;24106308;24154488;24161567;24302727;24309559;24316275;24330582;24355420;24380854;24481452;24549985;24721719;24769090;24938130;7488247;7515333;7550366;7566098;7628454;7716743;7883760;7961644;7961671;8074712;8125016;8246913;8384309;8393992;8794892;9079689;9083006;9111057;9170146;9446600;9704006;9712901;9759704;9787404;9837941;9887096;9972449 196 P35869 AA329775;ABBA01056640;AC003075;AK307495;AMYH02015311;BC021696;BC069390;BC070080;BQ020427;BQ024331;BX505160;CH236948;CH471073;D16354;D31708;D38044;L19872;NM_001621;U28063;U28064;U28066 AAA16210;AAA92082;AAA92083;AAA92084;AAH69390;AAH70080;BAA03857;BAA07235;EAL24281;EAW93686;EAW93687;NP_001612;P35869 Hs.171189 1643974;1743443;1856150;2134956;2154202;2161845;2164706;2164708;2170781;5021872;5120478;7184439 A005Q15;AHR;D7S1643;D7S2777;G20414;GDB:335257;GDB:335259;RH17631;SHGC-57476;STS-AA031700;sY3084 bHLHe76 AH-receptor;OTTHUMP00000195583;OTTHUMP00000233987;ah receptor;aromatic hydrocarbon receptor;class E basic helix-loop-helix protein 76 APPROVED protein-coding ENSG00000106546 HGNC:348 02596 600253 VALIDATED 1603658 AHDC1 AT hook, DNA binding motif, containing 1 This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014] 1 1 1 p36.13 26256416 26325804 - 27860756 27930463 - 27534245 27603952 - 6480464;8699517;7240710;8554872 12477932;15146197;16713569;20562864;21139048;21282530;21832049;22558309;24791903;8619474;9110174 27245 Q5TGY3 ABBA01034979;ABBA01034980;ABBA01034981;ABBA01034982;ABBA01034983;AK125431;AL031729;AMYH02000602;BC002677;BC014394;BC064935;BM989685;CH471059;CN371147;NG_034158;NM_001029882;U79259;XM_005245848;XM_005245849;XM_005245850;XM_005245851;XM_005245852;XM_005245853 AAB50205;AAH02677;AAH14394;AAI52908;BAC86163;EAX07751;EAX07752;NP_001025053;Q5TGY3;XP_005245905;XP_005245906;XP_005245907;XP_005245908;XP_005245909;XP_005245910 Hs.469280 1648409;1671424;1692666;1733086;5092898 A009C01;AL034084;D1S1421;G32400;SHGC-33185 CL23945;DJ159A19.3;MRD25;RP1-159A19.1 AT-hook DNA-binding motif-containing protein 1;OTTHUMP00000003476;OTTHUMP00000003600;a.T hook DNA-binding motif-containing protein 1 protein-coding ENSG00000126705 HGNC:25230 10885 615790;615829 REVIEWED 1345625 AHNAK AHNAK nucleoprotein ENCODES a protein that exhibits poly(A) RNA binding; S100 protein binding; structural molecule activity conferring elasticity (ortholog); INVOLVED IN regulation of voltage-gated calcium channel activity; protein oligomerization (ortholog); regulation of RNA splicing (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN actin cytoskeleton; cell-cell contact zone; cytoplasm; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 5-aza-2'-deoxycytidine 11 11 11 q12.2 59530422 59643724 - 62201014 62314332 - 62433542 62546860 - 1580863;6480464;8554872 10737800;11312263;11535620;11746675;12153988;12477932;14625392;14699089;14702039;15001564;15033986;15177040;15607035;16009940;1608957;16319140;16417406;16582619;16712791;16984913;17185750;17207965;17255364;17897319;18334579;19056867;19380743;19394292;19471022;19596686;19738201;19805454;19946888;20020773;20029029;20360068;21044950;21139048;21182205;21319273;21890473;21906983;21940993;21963094;21987572;22057634;22304920;22586326;22863883;22937058;22939629;22940583;23000965;23144326;23182705;23275167;23409183;24253341;24332808;24583282;24654937;24960163;25015289;25027693;7789175;7987395 79026 B4DTV0;E9PJC6;E9PJZ0;E9PKR9;E9PLK4;E9PQE3;Q09666;Q9BVU3 ABBA01003224;ABBA01003225;ABBA01003226;ABBA01003227;ABBA01003228;AK091153;AK095346;AK128868;AK300376;AMYH02024889;AMYH02024890;AMYH02024891;AMYH02024892;AMYH02024893;AP001363;AP003064;BC000926;BC012477;BC017483;BC128460;BE873999;BF094607;BF761997;BQ448690;CB129722;CH471076;CN482151;KC877424;KC877431;M80899;M80902;NM_001620;NM_024060;X74818;XM_005274240;XM_005274241;XM_005274242;XM_005274243;XM_005274244;XM_005274245;XM_005274246;XM_006718686;XM_006718687;XM_006718688 AAA69898;AAA69899;AAH00926;AAH12477;AAI28461;ADQ32850;ADZ15763;BAC03596;BAC87652;BAG62112;CAA52817;EAW74019;NP_001611;NP_076965;Q09666;XP_005274297;XP_005274298;XP_005274299;XP_005274300;XP_005274301;XP_005274302;XP_005274303;XP_006718749;XP_006718750;XP_006718751 Hs.502756 1656978;1736158;1850617;1855179;1856398;2153100 AHNAK;D11S2237E;RH17740;RH46547;RH66240;SHGC-15247 MGC5395 AHNAK-related;AHNAKRS;OTTHUMP00000236155;OTTHUMP00000236448;OTTHUMP00000236450;OTTHUMP00000236451;ahnak nucleoprotein (desmoyokin);desmoyokin;neuroblast differentiation-associated protein AHNAK protein-coding ENSG00000124942 HGNC:347 14684 103390 VALIDATED 1346562 AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) ENCODES a protein that exhibits ATPase activator activity; chaperone binding; INVOLVED IN positive regulation of ATPase activity; FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH 4-phenylbutyric acid; celastrol; copper(2+) sulfate 14 14 14 q24 57962942 57974371 + 77924373 77935815 + 77458030 77469472 + 1580863;6480464 10931946;11042152;11554768;12477932;12504007;12508121;12604615;15489334;16696853;17110338;17353931;18029348;18556464;19056867;19875381;20029029;20089831;20159553;20226818;21110914;21139048;21145461;21419342;21832049;21890473;21906983;22268729;22315411;22504172;22727666;22859491;22863883;22939629;23000965;24451373;24816145;25027693;25036637 10598 G3V3W9;G3V438;H0YJ63;H0YJG6;H0YJG7;H0YJU2;O95433 ABBA01030647;AF111168;AF161440;AF164791;AJ243310;AK300766;AK313824;AMYH02029571;AMYH02029572;BC000321;BC007398;BG432594;CH471061;NM_012111 AAD09623;AAF29000;AAF80755;AAH00321;AAH07398;BAG36559;BAG62431;CAB45684;EAW81291;EAW81292;NP_036243;O95433 Hs.204041 1654355;1655388;1655686;1683613;1725675;1772739 A001T10;G35866;G35953;G62105;RH98219;WI-15374 AHA1;C14orf3;p38 OTTHUMP00000246371;OTTHUMP00000246372;OTTHUMP00000246373;OTTHUMP00000246375;activator of 90 kDa heat shock protein ATPase homolog 1 protein-coding ENSG00000100591 HGNC:1189 09768 608466 VALIDATED 1316203 AHSA2 AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) ENCODES a protein that exhibits ATPase activator activity (inferred); chaperone binding (inferred); INVOLVED IN positive regulation of ATPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 p15 61249018 61259145 + 61404553 61415240 + 61177420 61191203 + 6480464;8554872 12477932;12504007;12604615;14702039;14739935;15570572;20190752;23128233 130872 B8ZZA7;Q719I0 AA856729;ABBA01075349;AC016747;AF542548;AI636364;AK091998;AK092505;AK092817;AK123709;AL833813;AMYH02003920;BC030998;BC050395;BC063789;BC113671;BC117278;CH471053;NM_152392;XM_006711943;XM_006711944;XM_006711945 AAI13672;AAI17279;AAQ09531;AAY14686;ADR82832;BAG52613;CAD38676;EAX00002;EAX00003;EAX00004;EAX00005;EAX00006;EAX00007;EAX00008;EAX00009;NP_689605;Q719I0;XP_006712006;XP_006712007;XP_006712008 Hs.655602;Hs.732993 1680645;1685890;1740171;1849487;2114978;2115231;2181342 D1S2533;D2S2701;RH16454;RH68436;RH80267;RH93700;SHGC-34452 DKFZp564C236;FLJ34679;FLJ41715;Hch1 OTTHUMP00000159808;OTTHUMP00000159809;OTTHUMP00000202097;OTTHUMP00000202098;activator of 90 kDa heat shock protein ATPase homolog 2 protein-coding ENSG00000173209 HGNC:20437 16479 VALIDATED 1320178 AHNAK2 AHNAK nucleoprotein 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; plasma membrane; costamere (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 14 14 14 q32.33 85457805 85498909 - 105403590 105444694 - 104937253 104978357 - 6480464;8554872 12477932;14702039;15007166;17185750;21139048;21906983;22863883;22939629;23000965;24390342 113146 Q8IVF2 AB095939;ABBA01008850;AK094143;AK095704;AK126472;AL512802;AL834367;AMYH02029958;BC004283;BC011859;BC033372;BC049216;BC090889;BC144467;BX537923;BX538040;BX538106;BX538133;NM_138420;XM_005267299 AAH11859;AAH33372;AAH49216;AAH90889;BAC23115;CAD39030;CAD97904;CAD97981;CAD98019;CAD98034;NP_612429;Q8IVF2;XP_005267356 Hs.441783 1689704;1776376;1850985;2139634 NIB978;RH75636;SGC34658;WI-3672 C14orf78;KIAA2019 OTTHUMP00000244370;chromosome 14 open reading frame 78 protein-coding ENSG00000185567 HGNC:20125 608570 VALIDATED 1348620 AHI1 Abelson helper integration site 1 This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 6 6 6 q23.3 136345472 136559269 - 135604670 135818903 - 135283532 135497765 - 1598905;6480464;7240710;8554872;8699517 16155189 11076863;11230166;12186888;12477932;14574404;14702039;14751929;15060101;15169551;15322546;15467982;15489334;15489336;16240161;16381901;16453322;16773125;17409309;17473831;17668382;18054307;18227995;18633336;18782849;18785627;18936234;19191019;19322201;19342780;19379585;20045148;20071346;20301500;20301743;20371615;20379614;20452750;20580033;20683928;20805890;21068128;21833088;22123816;22183070;22285701;22623184;22745667;23028714;23171462;23446755;23532844;8125298 54806 E9PI51;E9PML3;H0Y343;H0YDL1;H0YE01;H0YEF1;Q8N157;Q8NER0;Q9NQN3 ABBA01025840;ABBA01025841;AI300295;AJ459824;AJ459825;AJ606362;AK000076;AK024085;AK092262;AK225210;AL023693;AL049552;AL133544;AL136797;AMYH02014546;AMYH02014547;AMYH02014548;AMYH02014549;AMYH02014550;AMYH02014551;AY133243;BC015019;BC029417;BC039559;BC050607;BC065712;BC094800;BX643029;CH471051;DQ090887;KF458299;NG_008643;NM_001134830;NM_001134831;NM_001134832;NM_017651;XM_005267039;XM_006715507;XR_427973 AAH29417;AAH65712;AAH94800;AAM94177;AAY99645;BAA90929;BAB14820;BAC03840;CAB66731;CAD30871;CAD30872;CAE54481;CAL38370;EAW47962;EAW47963;EAW47964;EAW47965;EAW47966;NP_001128302;NP_001128303;NP_001128304;NP_060121;Q8N157;XP_005267096;XP_006715570 Hs.386684 1645348;1648340;1654108;1657221;1658947;1679517;1700848;1714105;2125389;2148750;2172692;2186160 A007F37;AFMa074zg9;AL031217;AL031220;RH104050;RH119659;RH46754;RH69238;RH80542;SHGC-36080;SHGC-54149;WI-15947 AHI-1;DKFZp686J1653;FLJ14023;FLJ20069;JBTS3;ORF1;dJ71N10.1 OTTHUMP00000017263;OTTHUMP00000017265;OTTHUMP00000234456;OTTHUMP00000234654;OTTHUMP00000234656;abelson helper integration site;abelson helper integration site 1 protein homolog;contatins SH3 and WD40 domains;jouberin APPROVED protein-coding ENSG00000135541 HGNC:21575 10597 608629;608894 REVIEWED 1348641 AHRR aryl-hydrocarbon receptor repressor The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] 5 5 5 p15.3 402630 536558 + 304291 438406 + 304176 438291 + 6480464;8554872 10574462;1070014;11181995;11393538;11423533;11835227;12477932;12777964;14672759;14702039;15474075;15758562;16084889;16344560;16751776;17244640;17513317;17559847;17890447;17949687;17980155;18029348;18172554;18565642;18632753;18676680;19137073;19170196;19251700;19380484;19501819;19625176;20237496;20378615;20453000;21602797;21897333;22017422;22232023;22337624;22951721;22952704;23070629;23168330;23583445;23648678;23768840;8889548;9887096 57491 A9YTQ3;D6RE68;D6RF73;E5RFG4;E5RGQ2;E5RHE0;G3V143;H0YA43 AB033060;ABBA01034257;ABBA01034258;ABBA01034259;ABBA01034260;ABBA01034261;AC010442;AC118458;AF293629;AF293639;AK090508;AK127977;AK314472;AMYH02010747;AMYH02010748;AMYH02010749;AMYH02010750;AMYH02010751;BC035358;BC121047;BC121048;BC151852;BC152406;BM682431;BU738250;BX400426;CH471235;DA051156;DA863025;EU293605;KC876910;KF457843;NG_029834;NM_001242412;NM_020731 A9YTQ3;AAG33381;AAI51853;AAI52407;AAI60162;ABX89616;BAA86548;EAW50992;NP_001229341;NP_065782 Hs.50823 1334912;1654838;1682485;1735562;1739581;1740477;1740511;1762689;1856526;2135802;2148154;2172752;2218202 AHRR__4268;D5S1680E;D5S1924E;D5S2273E;D5S2300E;D5S2509;D5S392;RH44696;RH47205;RH77958;SGC32312;SGC34338;SHGC-146482 AHH;AHHR;KIAA1234;MGC167813;MGC176630;bHLHe77 OTTHUMP00000221488;OTTHUMP00000221489;ahR repressor;aryl hydrocarbon hydroxylase regulator;aryl hydrocarbon receptor regulator;aryl hydrocarbon receptor repressor;arylhydrocarbon receptor repressor;class E basic helix-loop-helix protein 77;dioxin receptor repressor APPROVED protein-coding ENSG00000063438 HGNC:346 07356 606517 REVIEWED 736027 AHSG alpha-2-HS-glycoprotein Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. [provided by RefSeq, Jul 2008] 3 3 3 q27 184767234 184775491 + 186330850 186339107 + 186613061 186621318 + 1625792;1625793;1625794;1580863;2313813;2313810;2313812;2313814;2313809;2313811;6480464;6484113;8554872 12153747;15698447;16567827;17011519;17062776;18316360;18633113;19029462;19228823 10550518;10947975;11415520;11439093;11788587;11922920;12071714;12140560;12203945;12207096;12477932;12556469;12642050;12665801;12725640;12754519;12773197;12914574;14667137;14718574;14760718;15174051;15489334;15589849;15592877;15599699;15806395;15882283;15917161;15931001;16002217;16024912;16046317;16113307;16117875;16318278;16335952;16502470;16567568;16740002;16898488;16968979;17010978;17116465;17207965;17303000;17318070;17474147;17557141;17611637;17702860;17851232;17882149;17889958;17960182;18065755;18085392;18089450;18281421;18286307;18334823;18335040;18337634;18364352;18612115;18624398;18728159;19016589;19031279;19056867;19110009;19151998;19194829;19358088;19453261;19478814;19602903;19615685;19672022;19681840;19857655;19857676;19862540;19896717;19910501;19913121;19931899;20015522;20019453;20031641;20091488;20150538;20199782;20299368;20360068;20374388;20379614;20436350;20453496;20496312;20501379;20533272;2054237;20543523;20546343;20575466;20576822;20605840;20628086;20660040;20713686;20806899;20926473;20929991;20946008;20956534;20963400;20964498;21085476;21103663;21123340;21253869;21310413;21383631;21521338;21521346;21543017;21613794;21659653;21804488;21893974;21904596;21953030;21958193;22024217;22079093;22101880;22115341;22170794;22196954;22304920;22377528;22387701;22425942;22489108;22511752;22546644;22554599;22619360;22685600;22703881;22815691;22820893;22855337;22939629;22980907;23024326;23056292;23066960;23109215;23190703;23231493;23418544;23433744;23439582;23577176;23600632;23627434;23719603;23758931;23765754;23795812;23801724;23811603;23852792;23907641;23925820;23933250;23943623;23961784;24088332;24140093;24143207;24165691;24332981;24366942;24487480;24618180;24654937;24969186;2645941;2760061;3356172;3474608;3924066;3944104;6803836;6833285;7736783;7906861;8940198;9003486;9322749 197 AAB29984;C9JV77;P02765 AB038689;ABBA01058388;AC068631;AK292751;AK298447;AK303754;AK312969;AMYH02008346;BC048198;BC052590;CH471052;D67012;D67013;DC362553;M16961;NG_011436;NM_001622 AAA51683;AAB29984;AAH48198;AAH52590;ADQ32184;BAA22651;BAA22652;BAA92189;BAF85440;BAG35808;BAH12792;BAH14038;EAW78187;EAW78188;EAW78189;NP_001613;P02765 Hs.324746 1661672;1662788;1669593;1680739;1686490;1741419;1769930;1774083;1774085;1847939;2151033;2164432;2179377 D3S3887;D3S3973;GDB:181194;HUM00TW154;RH47182;RH79056;RH80456;SHGC-2497;SHGC-36465;SHGC-77611;SHGC-79;STS-M16961;STS-T96520 A2HS;AHS;HSGA FETUA;OTTHUMP00000210158;OTTHUMP00000210159;alpha-2-Z-globulin;ba-alpha-2-glycoprotein;fetuin-A APPROVED protein-coding ENSG00000145192 HGNC:349 00727 138680 REVIEWED 1345176 AIED Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) ASSOCIATED WITH Aland Island Eye Disease (inferred); Cone-Rod Dystrophy, X-Linked, 3 (inferred); NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (inferred) 7240710 198 HGNC:351 300071;300476;300600 1315507 AHSP alpha hemoglobin stabilizing protein ENCODES a protein that exhibits hemoglobin binding (inferred); INVOLVED IN hemoglobin metabolic process (inferred); hemopoiesis (inferred); protein folding (inferred); INTERACTS WITH iron atom; iron(0); isotretinoin 16 16 16 p11.2 28768632 28769553 - 31539203 31540125 + 31527882 31528804 + 1580863;6480464 11042152;11231637;12066189;12192002;12477932;14667971;14715623;15220346;15489334;15550245;16169070;16186125;16189514;16339656;17192395;17194704;17874450;18166800;18179859;18347943;18676996;18704762;19349619;19482015;19706593;20036801;20371604;20627634;20815047;21232177;21988832;22079025;22145905;22298770;23264625;23333304;23696640 51327 H3BSK6;Q549J4;Q9NZD4 ABBA01042096;AC106730;AF112995;AF147435;AF208865;AF364517;AF485325;AMYH02031852;AY072612;BC035842;CH471192;H94920;NM_016633;XM_005255351;XM_005255352 AAF64279;AAH35842;AAK50856;AAL82894;AAO49381;AAP97228;ABM81851;ABM85002;EAW52118;NP_057717;Q9NZD4;XP_005255408;XP_005255409 Hs.274309 1682297;1682706;1725623;2108063 ERAF_8040;G62026;RH68152;RH91101 EDRF;ERAF OTTHUMP00000163295;alpha hemoglobin stabilising protein;alpha-hemoglobin-stabilizing protein;erythroid associated factor;erythroid differentiation associated factor;erythroid differentiation-related factor;erythroid-associated factor APPROVED protein-coding ENSG00000169877 HGNC:18075 12052 605821 VALIDATED 1354128 AIC Aicardi syndrome ASSOCIATED WITH Aicardi Syndrome (inferred) 7240710 192 HGNC:350 304050 735562 AIF1 allograft inflammatory factor 1 This gene is induced by cytokines and interferon. Its protein product is thought to be involved in negative regulation of growth of vascular smooth muscle cells, which contributes to the anti-inflammatory response to vessel wall trauma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 6 6 6 p21.3 33181222 33183026 + 31582969 31584798 + 31615192 31617021 + 1580863;2313020;2313027;2313032;2313037;2313043;2313025;2313026;2313038;2313039;2313199;2313033;2313024;2313029;2313041;2313021;2313022;2313023;2313028;2313030;2313034;2313035;2313036;2313040;2313042;2313045;6480464;8554872 10683518;15710454;16150122;16340083;16500929;16635480;17035944;17158026;17178407;18186080;18204784;18301954;18585922;18931666;18987644;19010395;19020040;19053043;19070908;19084047;19246105;19447505;19520144;9391121 10202016;11500035;11557666;11943136;12477932;12559634;12714565;12887599;14574404;14656967;14756805;15117732;15489334;15784173;15922740;16049345;16291819;16868985;17010532;17011575;17073733;17498268;17522098;17533487;17907195;18341653;18699778;18721278;18787073;18816612;18835879;19079260;19204726;19745784;19851445;20237496;20587610;20662065;20850992;20855536;21040744;21168672;21509525;21720444;21890473;22106834;22116621;22225958;22505724;22560794;22936669;23221708;23547889;23563607;23777936;23867161;24018427;24337893;24796669;25026748;25036637;7769138;8499947;8629302;8912632;9614071 199 I3WTX1;P55008;Q4V347;Q5STX8 ABBA01038082;ABBA01038083;AF088038;AF129756;AF299327;AF299329;AK290771;AL662801;AL662847;AL805934;AMYH02013452;BA000025;BC009474;BX248305;CB215777;CD521003;CH471081;CR542153;CR753892;CR759761;D86438;DB502939;EF070981;EF070982;EF070983;JQ782414;JQ782415;NM_001623;NM_004847;NM_032955;U19713;U49392;U95213;XM_005248869;XM_005248870;XM_005248871;XM_005272777;XM_005272778;XM_005272779;XM_005274923;XM_005274924;XM_005274925;XM_005275219;XM_005275220;XM_005275221;XM_005275355;XM_005275356;XM_005275357;XM_005275514;XM_005275515;XM_005275516;Y14768 AAA92457;AAB05003;AAC24422;AAD18087;AAG39110;AAG39112;AAH09474;ABK35646;ABK35647;ACE87076;ACE87756;AFL46387;AFL46388;BAA13088;BAB63392;BAF83460;CAA75060;CAA75061;CAA75062;CAG46950;EAX03442;EAX03443;EAX03444;EAX03445;EAX03446;EAX03447;NP_001614;NP_004838;NP_116573;P55008;XP_005248926;XP_005248927;XP_005248928;XP_005272834;XP_005272835;XP_005272836;XP_005274980;XP_005274981;XP_005274982;XP_005275276;XP_005275277;XP_005275278;XP_005275412;XP_005275413;XP_005275414;XP_005275571;XP_005275572;XP_005275573 Hs.76364 1753991;1795334;2122325 AIF1_696.2;D6S1864;SHGC-132025 AIF-1;IBA1;IRT-1;IRT1 OTTHUMP00000029354;OTTHUMP00000029356;OTTHUMP00000029358;allograft inflammatory factor-1 splice variant Hara-1;interferon gamma responsive transcript;ionized calcium-binding adapter molecule 1;protein G1 APPROVED protein-coding ENSG00000204472 HGNC:352 03496 601833 REVIEWED 1347771 AICDA activation-induced cytidine deaminase This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009] 12 12 12 p13 10292343 10303027 - 8754762 8765463 - 8602166 8612846 - 1580863;1598906;6480464;6484113;6907045;7240710;8554872;8699517 11007475 10950930;11076863;11112359;11256614;11544457;11823785;12011459;12097915;12114543;12202747;12477932;12511417;12521993;12651944;12683974;12715918;12799424;12855567;12873980;12928399;12973929;14536088;14551145;14769937;14990977;15061213;15087440;15148397;15182647;15195091;15252444;15304391;15371439;15372234;15448152;15489334;15489336;15593119;15613101;15634916;15814733;15944282;15949042;16122802;16251902;16269615;16314506;16381901;16387847;16439679;16541139;16580072;16624806;16705187;16785531;16999936;17060445;17066440;17132718;17161027;17485517;17638864;17878393;18213388;18306229;18329947;18390709;18391550;18417471;18722174;18757891;18760480;18772346;18776814;18940926;19017972;19023113;19057669;19139166;19196959;19247692;19266080;19309412;19336552;19363484;19380635;19412186;19443686;19561087;19573080;19575287;19578742;19667096;19703021;19732723;19734146;19741596;19773279;19859091;19898425;19911124;19953087;19966806;20027182;20048284;20117026;20118283;20233972;20237496;20237507;20338830;20373075;20379614;20491788;20507984;20637757;20729863;20855884;20864035;20878190;20927319;20974684;21041454;21048031;21109971;21133730;21255825;21268017;21290192;21385873;21570118;21659520;21700883;21831295;21832049;21984922;22034886;22042974;22080610;22168746;22198384;22205734;22234692;22308462;22363466;22391874;22446380;22466889;22469133;22492685;22715099;22798497;22843687;22899287;22962683;22992148;23008333;23017209;23071276;23133680;23166356;23190037;23198547;23212122;23263985;23277564;23341589;23363221;23399385;23408445;23476051;23589568;23593411;23634222;23652018;23662991;23803409;23820005;23882083;23942124;24025329;24244169;24434356;24507160;24973444 57379 H0YFL3;H0YFP1;H0YGF6;Q546Y9;Q7Z599;Q9GZX7 AB040430;AB040431;AB092577;ABBA01012245;AC092184;AF529815;AF529816;AF529817;AF529818;AF529819;AF529820;AF529821;AF529822;AF529823;AF529824;AF529825;AF529826;AF529827;AJ577811;AMYH02025992;AY534975;AY536516;AY536517;AY541058;AY748364;BC006296;BT007402;BX402063;CH471116;CS056120;DQ431660;EU794587;HH794616;NG_011588;NM_020661 AAH06296;AAM95402;AAM95403;AAM95404;AAM95405;AAM95406;AAM95407;AAM95408;AAM95409;AAM95410;AAM95411;AAM95412;AAM95413;AAM95414;AAP36066;AAS90604;AAS92920;AAS92921;AAS98257;AAU95780;ABD92700;ABM83915;ABM87236;ACJ13641;BAB12720;BAB12721;BAC66114;CAE12261;CAI75242;CAL38484;CBX87165;EAW88615;NP_065712;Q9GZX7 Hs.149342 1699712 RH103461 AID;ARP2;CDA2;HEL-S-284;HIGM2 OTTHUMP00000239182;OTTHUMP00000239185;OTTHUMP00000239186;cytidine aminohydrolase;epididymis secretory protein Li 284;integrated into Burkitt's lymphoma cell line Ramos;single-stranded DNA cytosine deaminase APPROVED protein-coding ENSG00000111732 HGNC:13203 05585 605257;605258 REVIEWED 1603969 AIDA axin interactor, dorsalization associated ENCODES a protein that exhibits protein domain specific binding (inferred); INVOLVED IN negative regulation of JUN kinase activity; dorsal/ventral pattern formation (ortholog); negative regulation of JNK cascade (ortholog); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; disodium selenite 1 1 1 q41 196060430 196105032 - 222841355 222886602 - 222668013 222712522 - 6480464 12477932;14702039;16344560;17681137;21832049;21900206;8619474;9110174 64853 Q96BJ3 ABBA01048046;AF131838;AK022868;AK289865;AK301870;AL392172;AL592148;AL833718;AMYH02002750;BC015535;BC043142;BC067805;BC171848;BG705886;CH471059;DA483113;NM_022831 AAH15535;AAH43142;AAH67805;AAI71848;BAB14281;BAF82554;BAH13571;CAH56257;EAX06366;NP_073742;Q96BJ3 Hs.156625;Hs.534965 1655041;1670094;1680507;1692636;1717879;2117623;2131929;2140001;2140003;2144282;5016183;5022158;5124635 A005Z29;AL010083;AL033945;Cda0qg07;D13S918;D1S2190;D1S2529;G20628;G59749;RH122771;RH98227;SHGC-59595;SHGC-76398 C1orf80;FLJ12806;FLJ32421;RP11-378J18.7 OTTHUMP00000035773;OTTHUMP00000035774;axin interaction partner and dorsalization antagonist;axin interactor, dorsalization-associated protein protein-coding ENSG00000186063 HGNC:25761 07798 612375 VALIDATED 7205112 AIFM1P1 apoptosis-inducing factor, mitochondrion-associated, 1 pseudogene 1 10 10 10 p12.31 18710115 18713279 + 19024604 19027758 + 18735675 18738829 + 645120 ABBA01034534;AL512641;AMYH02022382;NG_021350 pseudo HGNC:44884 INFERRED 1604991 AIFM3 apoptosis-inducing factor, mitochondrion-associated, 3 ENCODES a protein that exhibits 2 iron, 2 sulfur cluster binding (inferred); flavin adenine dinucleotide binding (inferred); metal ion binding (inferred); INVOLVED IN execution phase of apoptosis; FOUND IN endoplasmic reticulum; mitochondrial inner membrane; mitochondrion; INTERACTS WITH copper(2+) sulfate; diazinon; trichostatin A 22 22 22 q11.21 4810763 4826996 + 21319418 21335649 + 20965130 20981360 + 6480464 12477932;14702039;15461802;15489334;15764604;15790807;16001080;16344560;18029348;18482256;19166416;20877624;21832049;22387901;22550867 150209 B7Z376;B7Z9S7;C9JPU8;C9K029;F8WC30;F8WFB6;Q96NN9 ABBA01015433;AC002470;AK055035;AK094844;AK126917;AK295581;AK316042;AMYH02038086;AY927574;AY927594;BC032485;BQ028401;CH471176;CR456342;DA396585;DB172173;KF457368;KF457369;KF510577;NM_001018060;NM_001146288;NM_144704;NR_027464 AAH32485;ADZ15447;BAB70841;BAC04434;BAH12112;BAH14413;CAG30228;CAK54484;CAK54783;EAX02924;EAX02925;EAX02926;EAX02927;EAX02928;EAX02929;EAX02930;EAX02931;NP_001018070;NP_001139760;NP_653305;Q96NN9 Hs.723246 AIFL;FLJ30473;FLJ45137 OTTHUMP00000198534;OTTHUMP00000198535;OTTHUMP00000198536;apoptosis-inducing factor 3;apoptosis-inducing factor like;apoptosis-inducing factor-like protein protein-coding ENSG00000183773 HGNC:26398 08085 VALIDATED 1348070 AIH2 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) ASSOCIATED WITH Amelogenesis Imperfecta, Type IB (inferred); Amelogenesis Imperfecta, Type Ic (inferred) 7240710 200 HGNC:354 104500;204650 1312901 AIF1L allograft inflammatory factor 1-like ENCODES a protein that exhibits actin filament binding; FOUND IN actin cytoskeleton; actin filament; extracellular vesicular exosome; INTERACTS WITH acetylsalicylic acid; aflatoxin B1; all-trans-retinoic acid 9 9 9 q34.13-q34.3 104510955 104537611 + 133971863 133998539 + 131096476 131123152 + 737633;6480464 12477932 11076863;11230166;11256614;12975309;14702039;15164053;15489334;15489336;16344560;16381901;18699778;19056867;19322201;20237496;20360068;21890473;23824909;8889548 83543 A6PVM9;H7C605;Q5JUP1;Q5JUP3;Q9BQI0 ABBA01012077;ABBA01012078;AK022845;AK027181;AK057789;AK091912;AK128526;AK300473;AK314600;AL136566;AL157938;AL833896;AMYH02021779;AMYH02021780;AY359067;BC009826;BC021253;BI766795;BM975905;CH471090;DA285481;KF458943;NM_001185095;NM_001185096;NM_031426;NR_033701 AAH21253;AAQ89426;BAB14269;BAC03770;BAC87480;BAG37171;BAH13291;CAB66501;CAD38752;CAL37731;CAL38179;CAL38735;EAW87958;EAW87959;NP_001172024;NP_001172025;NP_113614;Q9BQI0 Hs.4944 1653070;1670738;1846532;1847022;2115163 A002O41;A007D17;HSC2JF042;IB671;RH18178 C9orf58;FLJ12783;IBA2;MGC29466 OTTHUMP00000022385;OTTHUMP00000022387;OTTHUMP00000022388;OTTHUMP00000022390;ionized calcium binding adapter molecule 2;ionized calcium-binding adapter molecule 2 protein-coding ENSG00000126878 HGNC:28904 12967 VALIDATED 1312709 AIFM2 apoptosis-inducing factor, mitochondrion-associated, 2 This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010] 10 10 10 q22.1 65151142 65171802 - 71872023 71892832 - 70112267 70132934 - 1580863;6480464;8554872 10441517;11980907;12135761;12477932;14702039;14741744;15164054;15273740;15342556;15489334;15958387;17347867;17711848;19270026;20635389;20877624;21139048;21890473;21906983;22623531;23000965;23443559 84883 Q9BRQ8 ABBA01019617;ABBA01019618;ABBA01019619;AF337957;AF506757;AI922797;AK027403;AK127353;AL731540;AMYH02023280;AX879197;BC006121;BC023601;BG332787;BP331371;BX537621;CH471083;NM_001198696;NM_032797 AAH06121;AAH23601;AAL73229;AAM77596;ABM84018;ABM87363;BAB55089;BAG54492;CAE90404;CAH56481;EAW54376;NP_001185625;NP_116186;Q9BRQ8 Hs.650680 1676324;2126883 D10S2375;RH99102 AMID;DKFZp686L1298;PRG3;RP11-367H5.2 5430437E11Rik;OTTHUMP00000019739;OTTHUMP00000019740;apoptosis-inducing factor (AIF)-homologous mitochondrion-associated inducer of death;apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death;apoptosis-inducing factor 2;apoptosis-inducing factor homologous mitochondrion-associated inducer of death;p53-responsive gene 3 protein APPROVED protein-coding ENSG00000042286 HGNC:21411 09797 605159 REVIEWED 731380 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, May 2010] X X X q26.1 129649901 129686423 - 129263337 129299861 - 130129362 130165887 - 1580863;6480464;6484113;6907045;7240710;8699517;8554872 10744629;10913597;11193032;11279485;11533664;1202295;12022952;12198487;12404120;12477932;12535654;12629154;12668724;12930708;14585540;14716299;15033690;15182854;15286713;15316071;15489334;15526035;15703386;15729291;15772651;15775970;16049016;16133872;16169070;16344560;16365034;16511342;16628003;16644725;16713569;16729031;17094969;17107772;17110338;17148452;17347867;17352692;17353931;17471535;17492772;17560018;17603079;17709377;17822623;17967870;18056262;18306460;18309324;18593521;18781797;18806756;18821579;19064571;19197367;19380743;19418225;19578750;19598027;19669652;19723031;19723032;19765186;19781850;19913121;20000738;20177052;20228227;20301532;20360068;20362274;20450583;20450942;20628086;20706999;20972266;20974255;21075090;21113133;21139048;21145461;21182205;21206973;21293491;21343306;21415862;21616126;21732781;21822214;21875946;21890473;22019070;22103349;22133578;22134679;22268729;22328780;22371500;22438963;22688575;22839996;22939629;23077592;23118229;23125841;23217327;23398456;23438482;23443329;23455922;23515028;23673989;23682427;23752268;23798571;23824909;23874603;23955799;24040019;24244333;24247248;24250222;24337577;24413738;24434313;24434516;24457600;24583282;24654937;24816145;24889240;24914854;8619474;9110174;9206994;9892620;9989411 9131 E9PMA0;E9PMQ8;E9PRR0;O95831 ABBA01047894;ABBA01047895;ABBA01047896;ABBA01047897;ABBA01047898;ABBA01047899;AF100928;AF131759;AK000775;AK314446;AL049703;AL049704;AL139234;AMYH02040474;AMYH02040475;AMYH02040476;AY795556;AY795557;BC111065;BC139738;BM807180;CH471107;CR457379;DA624842;DB119488;DQ016496;DQ016498;DQ016500;KF459397;KF510638;NG_013217;NM_001130846;NM_001130847;NM_004208;NM_145812;NM_145813 AAD16436;AAD20036;AAI11066;AAI39739;AAV54053;AAV54054;AAY84737;AAY84739;AAY84741;BAG37055;CAB41267;CAB41268;CAG33660;EAX11810;EAX11811;EAX11812;NP_001124318;NP_001124319;NP_004199;NP_665811;NP_665812;O95831 Hs.424932 2123190;2132156;5024756;5125352 DXS7034E;RH12533;RH80030;STS-AA001364 AIF;CMT2D;CMTX4;COWCK;COXPD6;MGC111425;NADMR;NAMSD;PDCD8 Neuropathy, axonal motor-sensory, with deafness and mental retardation;OTTHUMP00000024007;OTTHUMP00000024008;OTTHUMP00000024009;OTTHUMP00000226557;OTTHUMP00000230753;apoptosis-inducing factor 1, mitochondrial;neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome);programmed cell death 8 (apoptosis-inducing factor);striatal apoptosis-inducing factor APPROVED protein-coding ENSG00000156709 HGNC:8768 02161 300169;300816;310490 REVIEWED 1346253 AIH3 amelogenesis imperfecta 3, hypomaturation or hypoplastic type ASSOCIATED WITH AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 (inferred) 7240710 1358807 201 HGNC:355 301201 1346084 AIG1 androgen-induced 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; aflatoxin B1 6 6 6 q24.2 144122434 144401847 + 143381979 143661441 + 143059363 143340343 + 1580863;6480464 10810093;11266118;11329013;12477932;14574404;14702039;15489334;16344560;20379614;21622095;21988832;8125298;8889548 51390 Q5T2H0;Q5T2H3;Q5T2H4;Q5THU2;Q9NVV5 ABBA01025751;AF151861;AF153605;AJ420480;AK001347;AK222475;AK298533;AL023581;AL136116;AL391726;AL450335;AMYH02014631;AMYH02014632;AMYH02014633;AMYH02014634;BC009559;BC025278;BF725860;BG196820;BM977237;BX538067;BX640703;CA431282;CH471051;DB154031;KF458306;NM_001286587;NM_001286588;NM_001286589;NM_016108;XM_005267010 AAD34098;AAD41087;AAH25278;ABM84217;ABM87621;BAA91640;BAD96195;BAG60734;CAD97997;CAE45823;EAW47869;EAW47870;NP_001273516;NP_001273517;NP_001273518;NP_057192;Q9NVV5;XP_005267067 Hs.567501 1662775;1668386;1669565;1688576;1689251;1698122;1700444;1718791;1773931;1785880;2126095;2141101;2141103;5022578;5037552 A005R11;D1S1423;D6S1854;D8S2279;G20433;L18072;RH102594;RH103843;RH123099;RH12623;RH68631;RH91918;RH92672;SHGC-132024;STS-H95238 AIG-1;DKFZp686F03136;FLJ10485;RP1-95L4.1;dJ95L4.1 OTTHUMP00000017323;OTTHUMP00000017324;OTTHUMP00000017325;OTTHUMP00000017327;OTTHUMP00000017328;androgen induced protein (AIG-1), C-terminus truncated;androgen-induced gene 1 protein protein-coding ENSG00000146416 HGNC:21607 16346 608514 VALIDATED 1316387 AIM2 absent in melanoma 2 AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008] 1 1 1 q22 132102542 132116908 - 159028790 159046685 - 159058999 159076894 - 1580863;5490211;6480464 20303873 10828447;12477932;15076139;15582594;16432157;16710414;17726700;18029348;19158675;19158676;19158679;19293232;19795419;20401524;20595294;21471287;21550598;21804607;21883803;22092578;22140256;22320325;22483801;22869553;23171461;23251661;23376086;23479181;23530044;23764897;23790454;23811549;23864729;24164899;24244322;24419611;24971542;8700511;9242382;9865494 9447 O14862;Q5T3W0 ABBA01016620;ABBA01016621;AF024714;AK292042;AL359753;AMYH02002009;BC010940;CH471121;NM_004833;U52053;XM_005245616;XM_005245617;XM_006711633;XR_241107;XR_241108 AAB81613;AAH10940;BAF84731;EAW52795;NP_004824;O14862;XP_005245673;XP_005245674;XP_006711696 Hs.733411 PYHIN4 OTTHUMP00000035296;interferon-inducible protein AIM2 APPROVED protein-coding ENSG00000163568 HGNC:357 05202 604578 REVIEWED 1318501 AIM1L absent in melanoma 1-like ENCODES a protein that exhibits carbohydrate binding (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; copper(2+) sulfate 1 1 1 p36.11 25044670 25076960 - 26648350 26680621 - 26321859 26354130 - 6480464 12477932;14702039;15203218;16344560;16710414;17672918;21906983;23251661;8401585;9716656 55057 E7ET48;E7EX92;E9PIR9;J3KQW1;Q5T144;Q8N1P7;Q9NWG5 ABBA01034904;ABBA01034905;ABBA01034906;ABBA01034907;AK000902;AK095339;AL137264;AL451139;AMYH02000562;BC136870;CD628848;CD628851;CH471059;DA439029;DA456217;DR004727;NM_001039775;XM_005245918 AAI36871;BAA91416;BAC04533;CAB70663;EAX07819;NP_001034864;Q8N1P7;XP_005245975 Hs.128738 2124721 RH69989 CRYBG2;DKFZp434L1713;FLJ10040;FLJ38020 OTTHUMP00000003569;absent in melanoma 1-like protein;beta-gamma crystallin domain containing 2;beta/gamma crystallin domain-containing protein 2 protein-coding ENSG00000176092 HGNC:17295 09794 VALIDATED 1318513 AIM1 absent in melanoma 1 ENCODES a protein that exhibits carbohydrate binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); Oculocutaneous Albinism, Type IV (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 6 6 6 q21 107580963 107639255 + 106808683 107018335 + 106360808 106570460 + 1580863;6480464;7240710;8554872 10737800;12477932;12693952;14574404;14702039;16511323;1680551;17434096;17903293;18582473;19194464;19910543;20379614;20834067;21145461;22127895;22402438;22505724;22761906;24094292;24816145;8700511;9096375 202 B3KPT0;Q96QW7;Q9Y4K1 AA574200;ABBA01026195;ABBA01026196;AI765826;AK025693;AK056705;AK125137;AK297008;AK300443;AK316287;AL109920;AL359292;AL390074;AMYH02014241;AMYH02014242;BC062788;BF743639;CH471051;CV573838;HA637632;KF458246;KF458249;NM_001624;U83115;U83116;XM_005266839 AAB53791;AAB53792;AAH62788;AAI56647;BAG51792;BAG54152;BAG59543;BAG62166;BAH14658;CAZ39538;EAW48412;EAW48413;NP_001615;Q9Y4K1;XP_005266896 Hs.724262;Hs.744905 1661055;1671375;1703904 D6S1886;D6S2123;SHGC-83606 CRYBG1;ST4 OTTHUMP00000016924;absent in melanoma 1 protein;beta-gamma crystallin domain containing 1;beta/gamma crystallin domain-containing protein 1;suppression of tumorigenicity 4 (malignant melanoma) protein-coding ENSG00000112297 HGNC:356 18576 227240;601797;606574 VALIDATED 1352273 AIMP1P1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 1 20 20 20 p12.1 14183350 14184432 + 14107977 14109059 + 14127331 14128413 + 20677014 170547 ABBA01053978;AL136992;AMYH02036728;NG_001053 SCYE1P;bA400P21.1 APPROVED pseudo HGNC:16543 INFERRED 6480382 AIMP1P2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 2 1 1 q24.3 172855087 172855398 - 172885947 172886258 - 100873064 ABBA01027913;AMYH02002150;NG_032149;Z97198 pseudo HGNC:43693 INFERRED 1344147 AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008] 4 4 4 q24 104536003 104569617 + 107236767 107270382 + 106315610 106349225 + 724676;1580021;1580863;6480464;8699517;7240710;8554872 12429238;14732363 10358004;10409428;10852899;11157763;11306575;11714285;11741979;12161535;12477932;12543078;12729910;12819782;1400342;14500886;14588117;14688335;14702039;14982944;15489334;15857508;15935955;16055448;16196087;16344560;16615114;16674941;17018011;17051333;17303557;17443684;18448069;18621627;18951814;19002109;19362550;19460752;19565673;19573982;19917687;19946888;20332099;20413730;20429837;20510162;21047177;21092922;21139048;21145461;21416500;21576822;21789020;21832049;21890473;21906983;22190034;22412987;22505724;22767513;22863883;22939629;23000965;23082492;23398456;23672191;24816145;25015289;7545917;7929199;8052601;8078941;8188258;8449960;9278442;9368021;9405472;9878398 9255 B4DNK3;D6R937;Q12904 ABBA01063740;AC093680;AK095951;AK297950;AK303965;AMYH02009855;AMYH02009856;AY527272;BC014051;BG941396;BI258927;BM314663;BQ447202;CH471057;CR542281;DA211424;DC358150;NG_028166;NM_001142415;NM_001142416;NM_004757;U10117 AAA62202;AAH14051;ABM84225;ABM87736;BAG53174;BAG60265;BAG64889;CAG47076;EAX06203;EAX06204;NP_001135887;NP_001135888;NP_004748;Q12904 Hs.591680 1678349;1700696;1754375;1798132;2114733;2124662;2126138;2149743;2159558 G35299;RH103971;RH93669;SCYE1_2292;SHGC-132391;SHGC-24759;SHGC-57456;SHGC-59700;SHGC-67688 EMAP2;EMAPII;HLD3;SCYE1;p43 ARS-interacting multifunctional protein 1;OTTHUMP00000161877;OTTHUMP00000161878;OTTHUMP00000219673;aminoacyl tRNA synthase complex-interacting multifunctional protein 1;endothelial monocyte-activating polypeptide 2;endothelial-monocyte activating polypeptide II;multisynthase complex auxiliary component p43;multisynthetase complex auxiliary component p43;small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) APPROVED protein-coding ENSG00000164022 HGNC:10648 04676 260600;603605 REVIEWED 1603320 AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged in a tail-to-tail fashion. JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite direction compared to HRI and PMS2. The function of the JTV1 gene product is unknown. [provided by RefSeq, Jul 2008] 7 7 7 p22 6673238 6687807 - 6048882 6063465 + 6009251 6023834 + 6480464;8554872 10913161;11714285;12477932;12690205;12729910;12783850;12819782;12853948;15479637;15489334;16049031;16055448;16125937;16135753;16189514;1651330;16714300;17512523;18676680;18695251;18781797;19060904;19170196;19584093;19625176;19692168;19738201;19946888;21044950;21110914;21139048;21209200;21483803;21832049;21890473;21900206;21988832;22190034;22285955;22532625;22562359;22684553;22751010;22863883;22939629;23000965;23815603;23824909;23974709;24250222;24654937;24816145;600859;8052601;8078941;8188258;8449960;8666379;9278442;9878398 7965 A8MU58;F8W950;F8WCL2;Q13155 ABBA01029369;ABBA01029370;AC005995;AF116615;AK313037;AMYH02015163;AMYH02015164;BC002853;BC010156;BC013630;CH236963;CH878731;NM_006303;U24169;XM_005249847;XM_005249848;XM_005249850;XM_006715772 AAC50391;AAF71039;AAH02853;AAH10156;AAH13630;AAS00389;BAG35870;EAL23713;EAW55053;EAW55054;NP_006294;Q13155;XP_005249904;XP_005249905;XP_005249907;XP_006715835 Hs.301613;Hs.520205 1646772;1712220;2117616;2159210 D7S2761;G54017;RH12212;SHGC-37403 JTV-1;JTV1;P38;PRO0992 ARS-interacting multi-functional protein 2;OTTHUMP00000151158;OTTHUMP00000201310;OTTHUMP00000201311;aminoacyl tRNA synthase complex-interacting multifunctional protein 2;multisynthase complex auxiliary component p38;multisynthetase complex auxiliary component p38 APPROVED protein-coding ENSG00000106305 HGNC:20609 02915 600859 VALIDATED 1354071 AIP aryl hydrocarbon receptor interacting protein The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. [provided by RefSeq, Sep 2008] 11 11 11 q13.3 64584240 64592315 + 67250505 67258579 + 67483034 67491108 + 1580863;6480464;7240710;8554872;8699517 10690880;10986286;11013261;11259606;11805120;12036304;12065584;12361709;12477932;12482853;12721663;12810716;12837759;14557246;14730974;15489334;15592455;16257957;16582008;16728643;16807248;16936638;17018653;17242703;17244780;17299063;17329248;17341560;17360484;17609395;17613551;17893251;17914118;17916996;18029348;18381572;18410548;18484068;18628514;18710468;19188737;19366855;19375531;19390533;19474519;19556287;19684062;19794292;19883897;19910549;20029029;20211142;20354355;20506337;20507346;20530095;20595802;20634891;20661446;20685857;21078971;21139048;21170051;21208107;21340155;21450940;21512261;21546764;21753072;21903422;21906983;21984905;21988832;22026581;22113938;22319033;22420004;22505724;22720333;22811466;22863883;22915287;22939629;23000965;23038625;23300914;23321498;23371967;23418749;23418784;23455922;23633209;24025584;24078436;24250222;24255178;24778252;24816145;25036637;7961671;8889548;8972861;9083006;9111057;9447995;9837941 9049 E9PMH2;O00170;V9GYQ3 ABBA01024030;AM236341;AMYH02024997;AP001184;AP003419;BC104797;BC104827;BG821308;BU689235;CH471076;CN480874;EF203238;GQ847771;KF455413;NG_008969;NM_003977;U31913;U78521 AAB39923;AAB59004;AAI04798;AAI04828;ABO16001;ABZ92142;ACX54433;CAJ85657;EAW74637;NP_003968;O00170 Hs.412433 1646139;1655588;1686356;1772643;2217000 AIP_2914;RH47507;RH71222;STS-W15227;WI-14069 ARA9;FKBP16;FKBP37;SMTPHN;XAP-2;XAP2 AH receptor-interacting protein;HBV X-associated protein 2;HBV-X associated protein;OTTHUMP00000236411;OTTHUMP00000236412;aryl hydrocarbon receptor-interacting protein;aryl-hydrocarbon receptor interacting protein;aryl-hydrocarbon receptor-interacting protein;immunophilin homolog ARA9 APPROVED protein-coding ENSG00000110711 HGNC:358 10408 102200;219090;600634;605555 REVIEWED 1322440 AIRE autoimmune regulator This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012] 21 21 21 q22.3 30811017 30823364 + 45705721 45718102 + 44285838 44298219 + 1599008;1580863;2306853;6480464;6907045;7240710;8554872;8699517 18399912;9921903 10677297;10748110;10830953;11274163;11275943;11298085;11524731;11524733;11533054;11600535;11803052;11836330;12050215;12173302;12477932;12542742;12625412;12651856;12929931;14734522;14974083;15150263;15157567;15482854;15649886;15696198;15712268;15886230;15894121;15964547;16114041;16246524;16310047;16313305;16552513;16774540;16890195;17101293;17118990;17220063;17255364;17323409;17474147;17675238;17687331;17697502;17850514;17928069;17938200;17974569;17997173;18029348;18083234;18194361;18200029;18292755;18320920;18324482;18461357;18568643;18600308;18606876;18616706;18616774;18682433;19124002;19209622;19261265;19264985;19265170;19322061;19328411;19446523;19744957;19758376;19807739;19811436;19863576;20085707;20093495;20140861;20185822;20218732;20226168;20363194;20407862;20453472;20494980;20602615;20718774;20734064;20850570;20953165;21048031;21102544;21197407;21356351;21505073;21508664;21724609;21740349;21856934;21962774;22024611;22036612;22104652;22310661;22344197;22377300;22447927;22490868;22613203;22659170;23074189;23077531;23083345;23256763;23319629;23342054;23443559;23456700;23589212;23620608;23643663;23697860;23954874;24275490;24464130;24708100;7987397;9267805;9398839;9398840;9717837;9735375;9888391;9931333;9931335 326 O43918 AB006682;AB006683;AB006684;AB006685;ABBA01074161;ABBA01074162;AJ009610;AK309572;AMYH02037909;AP001060;AP001754;BC137268;BC137270;BC142608;CH471079;NG_009556;NM_000383;XM_005261110;Z97990 AAI37269;AAI37271;BAA23988;BAA23989;BAA23990;BAA23991;BAA23992;BAA23993;BAA95560;CAA08759;CAB10790;EAX09441;EAX09443;NP_000374;O43918;XP_005261167 Hs.129829 1793952 PMC310701P3 AIRE1;APS1;APSI;PGA1 APECED;OTTHUMP00000109528;OTTHUMP00000109529;autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein;autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) APPROVED protein-coding ENSG00000160224 HGNC:360 06301 240300;607358 REVIEWED 735610 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 17 17 17 p13.1 6347578 6359034 - 6327057 6338576 - 6423737 6435199 - 1599003;70801;1580863;6480464;7240710;8554872;8696011;8699517;8696012 10615133;10873396;19710705;24736053 10331942;11548141;11929855;12015276;12374762;12477932;12881340;14555765;14611946;14638743;14702039;15024725;15081406;15180275;15249368;15270697;15347646;15365173;15469903;15489334;15512997;15691574;16020312;16052170;16272259;16563381;17200655;17249560;17249611;17286855;17326818;18055816;18055820;18408180;18632300;18682808;18936139;19753312;19758987;19840725;19951596;19959640;20042464;20065226;20079931;20301475;20301590;20702822;20801516;21044950;21474771;21602930;21697133;21900377;22347407;22412862;23418749;23734073;23737531;24066033;24093488;24108108;24664679;8889548 23746 F1T0B5;F1T0B6;F1T0C0;F1T0C4;I3L3R9;J3KPI5;K7EPF4;Q6ZZB5;Q7Z3H1;Q9NZN9 AB593042;AB593043;AB593044;AB593045;AB593046;AB593047;AB593048;AB593049;AB593050;AB593051;AB593052;AB593053;AB593054;AB593055;ABBA01054828;AC055872;AF038437;AF148864;AF180472;AF525970;AJ633677;AJ633678;AJ830742;AJ830743;AK023970;AK314558;AMYH02032873;BC007994;BC012055;BE778451;BM685943;BQ638961;BU737234;BX537907;BX647279;BX953335;CH471108;DQ426860;NG_008474;NM_001033054;NM_001033055;NM_001285399;NM_001285400;NM_001285401;NM_001285402;NM_001285403;NM_014336 AAF26708;AAF74023;AAH12055;AAM88405;AAQ13422;ABM83186;ABM86388;BAB14744;BAG37143;BAJ83989;BAJ83990;BAJ83991;BAJ83992;BAJ83993;BAJ83994;BAJ83995;BAJ83996;BAJ83997;BAJ83998;BAJ83999;BAJ84000;BAJ84001;BAJ84002;CAD97892;CAG17882;CAG17883;CAH25995;CAH25996;EAW90310;EAW90311;EAW90312;EAW90313;EAW90314;EAW90315;NP_001028226;NP_001028227;NP_001272328;NP_001272329;NP_001272330;NP_001272331;NP_001272332;NP_055151;Q9NZN9 Hs.279887 1336063;1711382;1711426;2114096;2164410;2169948 AIPL1;G10693;G42173;G42198;RH78637;STS-AA019599 AIPL2;LCA4 OTTHUMP00000128207;aryl hydrocarbon receptor-interacting protein-like 1;aryl-hydrocarbon-interacting protein-like 1 APPROVED protein-coding ENSG00000129221 HGNC:359 05092 604392;604393 REVIEWED 1349404 AIS1 autoimmune susceptibility 1 ASSOCIATED WITH AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (inferred) 7240710 11912181;12707860 373071 1334633;1341142 D1S2742;D1S515 HGNC:16304 607836 1346674 AIS2 autoimmune susceptibility 2 ASSOCIATED WITH AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2 (inferred) 7240710 14691733 378426 7186484 D7S669 HGNC:23054 608391 1342580 AIS3 autoimmune susceptibility 3 (vitiligo specific) ASSOCIATED WITH AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3 (inferred) 7240710 14691733 378427 1340103 D8S505 HGNC:23083 608392 2306132 AIRN antisense of IGF2R non-protein coding RNA Both spliced and un-spliced long non-coding RNAs are transcribed from this gene. This gene overlaps on the opposite strand the second intron of the insulin-like growth factor 2 receptor gene; a CpG island associated with the second intron denotes an active promoter that drives the expression of this gene. The related mouse gene is responsible for silencing the insulin-like growth factor 2 receptor gene and flanking genes in the imprinted gene cluster of mice. This gene may be expressed in Wilms tumors. [provided by RefSeq, Feb 2013] 6 6 q26 160424323 160428696 - 160003291 160007664 - 6480464 11329013;18789384;19008856;21345374;21915889;22396659 100271873 ABBA01021058;AL035691;AMYH02014877;AW008515;BG216164;HG499843;NR_047511;NR_047514 Hs.742166 AIR;IGF2R-AS;IGF2R-AS1;IGF2RAS;NCRNA00088 APPROVED ncrna ENSG00000268257 HGNC:34515 604893 REVIEWED 1343876 AJUBA ajuba LIM protein ENCODES a protein that exhibits alpha-catenin binding; transcription corepressor activity; INVOLVED IN gene silencing by miRNA; negative regulation of hippo signaling; positive regulation of gene silencing by miRNA; PARTICIPATES IN E-cadherin signaling pathway; FOUND IN cell-cell junction; cytoplasmic mRNA processing body; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 3,4-dichloroaniline 14 14 14 q11.2 3303299 3314741 - 23440386 23451851 - 22971174 22982642 - 1580863;6480464;6484113 10330178;11029037;11860269;12417594;12477932;13678582;14702039;15728191;15778465;15870270;15870274;16413547;16712791;16713569;17621269;18331720;18347060;18710370;18805794;20133701;20508983;21139048;22105346;22286099;23704328;24673742;24680704 84962 G3V481;G3V5F5;H0YJL9;Q96IF1 AA909473;ABBA01061298;AK025567;AK096128;AL132780;AMYH02028858;AW615335;AY169959;BC007580;BC016733;BC034968;BU543883;BX109281;CB105505;CH471078;NM_001289097;NM_032876;NM_198086 AAH07580;AAH34968;AAO37641;ABM84439;ABM87485;BAG53217;EAW66204;EAW66205;NP_001276026;NP_116265;NP_932352;Q96IF1 Hs.655832 1721981;2143018;2174639;2178680;5491427 G59876;MARC_11631-11632:1002817108:1;RH47855;RH68535;WI-17421 JUB;MGC15563 LIM domain-containing protein ajuba;OTTHUMP00000027924;OTTHUMP00000164552;OTTHUMP00000246052;OTTHUMP00000246053;OTTHUMP00000246054;jub, ajuba homolog APPROVED protein-coding ENSG00000129474 HGNC:20250 16426 609066 VALIDATED 1603390 AJAP1 adherens junctions associated protein 1 INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (+)-catechin; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; all-trans-retinoic acid 1 1 1 p36.32 3826971 3955676 + 4715105 4843851 + 4655045 4783791 + 6480464;8554872 12477932;14595118;16410724;16707570;17267690;18485053;19240061;19515834;19850283;20467438;21439246;22241217;23064961;23793025;8619474;9110174 55966 Q9UKB5 ABBA01014088;ABBA01014089;ABBA01014090;AF052143;AF175409;AL023586;AL049672;AL049673;AL391808;AMYH02000152;AMYH02000153;AY282806;BC041648;CH471130;NM_001042478;NM_018836;Z98886 AAD53278;AAI60124;AAP35025;CAB41245;CAB41246;EAW71504;NP_001035943;NP_061324;Q9UKB5 Hs.25924 1336058;1703228;1733174;1766901;1773444;1850263;5105873 D1S1475;D1S2660;G09820;SGC32361;SHGC-151204;SHGC-152353;SHGC-74142 MOT8;RP3-426F10.1;SHREW-1;SHREW1 OTTHUMP00000000694;OTTHUMP00000000695;adherens junction associated protein 1;adherens junction-associated protein 1;membrane protein shrew-1;transmembrane protein SHREW1 protein-coding ENSG00000196581 HGNC:30801 15339 610972 VALIDATED 735291 AK2 adenylate kinase 2 Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010] 1 1 1 p34 31743797 31772701 - 33473541 33502512 - 33007940 33036911 - 1300048;5490520;6480464;6907045;7240710;8554872;8699517 16167529 10218571;12477932;14702039;15489334;15862967;16344560;16710414;17643375;17952061;18404568;19043416;19043417;19471022;195572;20877624;21139048;21145461;21693764;21890473;21906983;21963094;21988832;22505724;22939629;23824909;23874603;24583282;24816145;6182143;6961883;8843353;9434148;9504408 204 F8VPP1;F8VY04;F8VZG5;F8W1A4;G3V213;P54819 AB005621;AB005622;AB451267;AB451394;ABBA01023387;AK023758;AK291676;AK295105;AK296863;AK297036;AK307731;AL020995;AMYH02000726;AY080899;AY080900;BC009405;BC026705;BC070127;BC090040;BX504559;CH471059;DB206302;DC422465;NG_016269;NM_001199199;NM_001625;NM_013411;NR_037591;NR_037592;U39945;U54645;U84371;XR_246248 AAB41790;AAC13881;AAC52061;AAH09405;AAH70127;AAH90040;AAL87027;AAL87028;BAC16747;BAC16748;BAF84365;BAG58139;BAG59426;BAG59564;BAG70081;BAG70208;EAX07483;EAX07484;EAX07485;EAX07486;NP_001186128;NP_001616;NP_037543;P54819 Hs.470907 1336168;1338346;1682503;1696682;1739207;1793106;2110247;2117612;2136560;2151332;2153144;7185614 AK2__4273;AL009694;D1S2291;D1S241;D1S2676;PMC196577P1;RH70625;RH80838;SHGC-74553;SHGC-83025;STS-AA029315 ADK2;AK 2 ATP-AMP transphosphorylase 2;ATP:AMP phosphotransferase;OTTHUMP00000004287;OTTHUMP00000004288;OTTHUMP00000241076;OTTHUMP00000241096;OTTHUMP00000241097;adenylate kinase 2, mitochondrial;adenylate kinase isoenzyme 2, mitochondrial;adenylate monophosphate kinase APPROVED protein-coding ENSG00000004455 HGNC:362 00047 103020;267500 REVIEWED 736701 AK1 adenylate kinase 1 Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. [provided by RefSeq, Jul 2008] 9 9 9 q34.1 101279601 101290850 - 130628759 130640022 - 127866480 127877743 - 1300279;1580863;1601154;1300280;1300048;5134362;5508760;5490520;5147990;6480464;6907045;7240710;8554872;8699517 10233365;11101510;15855311;16167529;16468349;17611631;20127051 10557075;12124227;12432079;12477932;12649162;15489334;15967462;16344560;16714292;17353931;18029348;183954;18404568;18850517;19056867;19165527;20152999;21044950;211388;21139048;21457004;21831515;21832049;21890473;22287021;22419736;22637533;22939629;23000965;23146316;23863634;2541064;2542324;3024483;6305188;7947281;8125298;9504408 203 F8VRY5;H0Y4J6;H0YID2;P00568;Q5T9B7;Q6FGX9 AB021871;ABBA01043850;AK223501;AK313758;AL157935;AMYH02021699;BC001116;BC036803;BC100022;BT019580;CH471090;CR541977;CR542004;DA077967;EU794628;J04809;NG_011792;NM_000476;XM_005251786;XM_005251788 AAA51686;AAH01116;AAI00023;AAV38387;ABM83502;ABM86718;ACJ13682;BAA78534;BAD97221;BAG36497;CAG46775;CAG46801;EAW87706;EAW87707;EAW87708;EAW87709;NP_000467;P00568;XP_005251843;XP_005251845 Hs.175473 1695010;1759959;1777120;5015861;5022590;7185938 D10S16;D8S1362E;G44718;SHGC-31174;SHGC-31625 AK 1;HTL-S-58j ATP-AMP transphosphorylase 1;ATP:AMP phosphotransferase;OTTHUMP00000022217;OTTHUMP00000022218;OTTHUMP00000022219;OTTHUMP00000022220;OTTHUMP00000216413;adenylate kinase isoenzyme 1;adenylate monophosphate kinase;myokinase;testis secretory sperm binding protein Li 58j APPROVED protein-coding ENSG00000106992 HGNC:361 00046 103000;612631 REVIEWED 1626554 AK2P2 adenylate kinase 2 pseudogene 2 2 2 2 p23.1 31893336 31893756 - 32048479 32048899 - 31823410 31823830 - 339736 ABBA01074858;AL121652;AMYH02003532;NG_009660 1793106;2151332 PMC196577P1;SHGC-74553 pseudo HGNC:33542 INFERRED 1626587 AK2P1 adenylate kinase 2 pseudogene 1 1 1 1 p32.1 57380035 57380761 - 59096518 59097244 - 58630846 58631572 - 10092943 266920 ABBA01074659;AF056332;AL035411;AMYH02001097;NG_002393 1682503;1793106 PMC196577P1;RH80838 AK2B pseudo HGNC:24037 INFERRED 737588 AK3 adenylate kinase 3 The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 9 9 9 p24.1 4633666 4666796 - 4709556 4742043 - 4709556 4742043 - 1580863;1300048;5490520;6480464;6907045 16167529 10544043;11485571;12477932;14702039;15164053;15489334;16344560;182062;19322201;19820697;20139978;20877624;218813;21988832;22139419;22412388;22939629;24250222;24816145 50808 Q7Z4Y4;Q9UIJ7 AB021870;ABBA01065419;ABBA01065420;AF086913;AF100785;AF183419;AK001553;AK001951;AK027534;AK098205;AK124824;AK298200;AL136231;AL353151;AMYH02019077;AMYH02019078;BC013771;BI550730;BI601245;BX640794;CH471071;DA570364;DA718987;NG_028041;NM_001199852;NM_001199853;NM_001199855;NM_001199856;NM_016282 AAG09688;AAH13771;AAP97143;AAP97224;ABM82586;ABM85773;BAA87913;BAA91753;BAA91996;BAB55183;BAG53592;BAG54101;BAG60470;EAW58779;EAW58780;EAW58781;NP_001186781;NP_001186782;NP_001186784;NP_001186785;NP_057366;Q9UIJ7 Hs.732022 1644467;1675951;1678385;1679367;1695334;1735856;1744323;2152245;5014051;5015619;5021872;5022578;5022651;5037552;5093352 A009M22;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;D9S987E;G32668;GDB:451685;RH69311;RH69564;RH93015;SHGC-64759;STS-H37837;sY3084 AK 3;AK3L1;AK6;AKL3L;AKL3L1;FIX GTP:AMP phosphotransferase AK3, mitochondrial;GTP:AMP phosphotransferase mitochondrial;GTP:AMP phosphotransferase, mitochondrial;OTTHUMP00000021015;OTTHUMP00000021016;adenylate kinase 3 alpha like;adenylate kinase 3 alpha-like 1;adenylate kinase 3 like 1;adenylate kinase 6, adenylate kinase 3 like 1 APPROVED protein-coding ENSG00000147853 HGNC:17376 12439 609290 REVIEWED 5490944 AK3P3 adenylate kinase 3 pseudogene 3 7 7 7 23155076 23155736 + 23168797 23169457 + 23129178 23129838 + 100419075 ABBA01056700;AC006039;AMYH02015356;CH236948;NG_026542 pseudo HGNC:39062 INFERRED 5684152 AK3P2 adenylate kinase 3 pseudogene 2 8 8 8 q24.3 140448731 140449484 - 144138480 144139233 - 143057063 143057816 - 100419074 ABBA01005274;AC083982;AC236721;AMYH02018932;NG_026075 1744323 GDB:451685 HsT26053 pseudo HGNC:31099 INFERRED 4144672 AK3P5 adenylate kinase 3 pseudogene 5 10 10 10 p11.22 32998683 32999267 + 33233345 33233929 + 32944417 32945001 + 100288319 ABBA01033378;AL365203;AMYH02022586;NG_022166;NG_029012 pseudo HGNC:39064 INFERRED 4144669 AK3P4 adenylate kinase 3 pseudogene 4 5 5 5 q22.3 110686059 110686782 + 114738037 114738661 + 115402340 115402964 + 100129959 ABBA01069033;AC091981;AMYH02012002;NG_028719 pseudo HGNC:39063 INFERRED 6481552 AK3P6 adenylate kinase 3 pseudogene 6 12 12 129426644 129429838 - 128942099 128945293 - 100873789 ABBA01019774;AC069262;AMYH02027531;NG_032224 pseudo HGNC:39065 INFERRED 1606591 AK4 adenylate kinase 4 This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 63903944 63988555 + 65613232 65697828 + 65147549 65232145 + 5134352;2301096;5490520;6480464;6907045 16167529;16538043;21152904 10544043;11485571;12477932;15489334;16341674;16344560;1639383;182062;19073142;19322201;19766732;20379614;21832049;21900206;21988832;23002211;23474458;23509962;24654937;24816145;7140357;9504419;9813319 205 D3DQ64;P27144 ABBA01074546;ABBA01074547;ABBA01074548;ABBA01074549;AC099680;AK025926;AK026966;AK309057;AK313611;AL356212;AMYH02001176;AMYH02001177;BC016180;BC040224;BC066944;BC136886;BC136887;BC146653;BC148270;BF205061;BG703687;BM763432;BU164554;CH471059;CR456830;DB061266;DR003868;NM_001005353;NM_013410;NM_203464;X60673 AAH16180;AAH40224;AAH66944;AAI36887;AAI36888;AAI46654;AAI48271;ABM83220;ABM86420;BAG36374;CAA43088;CAG33111;EAX06538;EAX06540;EAX06544;NP_001005353;NP_037542;NP_982289;P27144 Hs.10862 1654272;1756401;1771299;1857111;2123561;2146320;2178374;5024717;5093588;5123052 A009S21;AL009904;G16073;G32808;RH70853;SGC34423;SHGC-143375;SHGC-74947;WI-11122;WI-7525 AK 4;AK3;AK3L1;AK3L2;MGC166959 ATP-AMP transphosphorylase;GTP:AMP phosphotransferase;GTP:AMP phosphotransferase AK4;GTP:AMP phosphotransferase AK4, mitochondrial;OTTHUMP00000010594;OTTHUMP00000241178;adenylate kinase 3-like 1;adenylate kinase 4, mitochondrial;adenylate kinase isoenzyme 4;adenylate kinase isoenzyme 4, mitochondrial;mitochondrial adenylate kinase-3;nucleoside-triphosphate-adenylate kinase APPROVED protein-coding ENSG00000162433 HGNC:363 00048 103030 REVIEWED 4144712 AK4P2 adenylate kinase 4 pseudogene 2 5 5 5 q11.2 51801829 51802495 - 54847716 54848382 - 55551888 55552554 - 100132104 ABBA01015743;AC008784;AC025777;AMYH02011314;NG_021849 pseudo HGNC:39066 INFERRED 1349421 AK4P1 adenylate kinase 4 pseudogene 1 12 17 17 q11.2 11589655 11591783 - 29672332 29674519 + 31345314 31347501 + 1639383 206 ABBA01014962;AC134669;AMYH02033295;NG_001070;X60674 AK3P1 APPROVED pseudo HGNC:364 INFERRED 4144715 AK4P4 adenylate kinase 4 pseudogene 4 9 9 9 p24.1 5793276 5793916 - 5855786 5856426 - 5855786 5856426 - 100128705 ABBA01065409;AL365360;AMYH02019089;NG_021605 2155895 1422 pseudo HGNC:39067 INFERRED 4145468 AK4P5 adenylate kinase 4 pseudogene 5 6 6 80787446 80788079 - 80077729 80078362 - 100526416 ABBA01040421;AL591135;AMYH02013981;NG_027847 KIAA1424 pseudo HGNC:39068 INFERRED 1605795 AK4P3 adenylate kinase 4 pseudogene 3 12 12 12 p11.21 11589655 11591785 - 31767377 31769508 - 31614443 31616574 - 645619 AC022080;AMYH02026280;CH471116;NG_007564 EAW88550 AK3;AK3L2;AK3L2P APPROVED pseudo HGNC:21596 INFERRED 4144674 AK4P6 adenylate kinase 4 pseudogene 6 4 4 4 q31.3 149267857 149268384 + 151948242 151948769 + 151027090 151027617 + 649288 ABBA01070096;AC079794;AMYH02010302;NG_022085 pseudo HGNC:39069 INFERRED 1353587 AK5 adenylate kinase 5 This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p31 75987128 76265178 + 77747662 78025654 + 77281977 77559969 + 1580863;5490520;6480464;6907045;8554872 16167529 10215863;12477932;14702039;15489334;16169070;18029348;18239623;19647735;20379614;23898208 26289 E9PIS7;E9PQQ8;H0YEZ1;Q9Y6K8 ABBA01074399;ABBA01074400;ABBA01074401;AC093433;AC093575;AC095030;AF062595;AF445193;AK090967;AMYH02001297;AMYH02001298;AMYH02001299;AMYH02001300;AMYH02001301;AMYH02001302;AW665223;AY171600;BC012467;BC033896;BC036666;CH471059;CR541890;DN993295;KF459522;NM_012093;NM_174858;XM_005270739;XM_006710572 AAD27956;AAH12467;AAH33896;AAH36666;AAO16520;AAP97322;BAC03558;CAG46688;EAX06377;EAX06378;EAX06379;NP_036225;NP_777283;Q9Y6K8;XP_005270796;XP_006710635 Hs.559718;Hs.597002 1341164;1658653;1662512;1700366;1723049;2109029;2132693;2148821;2151637;2164971;2175027;2178791;2186202;7186668 A004B41;AFMA114ZD9;AK5_9482;AL009966;D1S1862E;D1S2157;D1S2456;D1S499;G60475;RH103803;SHGC-30349;SHGC-53458;SHGC-75022 AK 5;AK6;MGC33326 ATP-AMP transphosphorylase 5;OTTHUMP00000011354;OTTHUMP00000011355;adenylate kinase 6;adenylate kinase isoenzyme 5 APPROVED protein-coding ENSG00000154027 HGNC:365 10472 608009 REVIEWED 7382322 AK6 adenylate kinase 6 This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 5 q13.2 69351726 69370013 - 6480464 10810093;10931946;12477932;15213396;15372022;15489334;15630091;16079131;1939271;19946888;20186459;20974138;21269460;22038794;23246961;2449431 102157402 Q9Y3D8 ABBA01048275;AC145132;AC145145;AF110777;AF151895;AJ878880;AJ878881;AMYH02011474;BC007349;BC007426;BX117839;NM_001015891;NM_016283 AAD34132;AAF14860;AAH07349;AAH07426;CAI48030;CAI48031;NP_001015891;NP_057367;Q9Y3D8 Hs.653163 AD-004;CGI-137;CIP AK/ATPase;AK/ATPase {ECO:0000255|HAMAP-Rule:MF_03173};AK6 {ECO:0000255|HAMAP-Rule:MF_03173};ATP-AMP transphosphorylase 6;CINAP;adenylate kinase isoenzyme 6;adenylate kinase isoenzyme 6 {ECO:0000255|HAMAP-Rule:MF_03173};adrenal gland protein AD-004;coilin interacting nuclear ATPase protein;coilin interacting protein;coilin-interacting nuclear ATPase protein;coilin-interacting nuclear ATPase protein {ECO:0000255|HAMAP-Rule:MF_03173};dual activity adenylate kinase/ATPase;dual activity adenylate kinase/ATPase {ECO:0000255|HAMAP-Rule:MF_03173};hCINAP protein-coding ENSG00000085231 HGNC:49151 VALIDATED 1320025 AK7 adenylate kinase 7 ENCODES a protein that exhibits adenylate kinase activity; cytidylate kinase activity; nucleoside diphosphate kinase activity; INVOLVED IN nucleoside diphosphate phosphorylation; nucleoside triphosphate biosynthetic process; PARTICIPATES IN purine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH benzo[a]pyrene; trichostatin A; valproic acid 14 14 14 q32.2 76914175 77010845 + 96858448 96955764 + 96392111 96489427 + 1580863;6480464;6907045;8554872 12477932;12508121;14702039;15489334;20379614;20537283;21080915;21139048;22801010;8889548 122481 G3V365;H0YIY5;Q96M32 ABBA01048590;ABBA01048591;ABBA01048592;ABBA01048593;ABBA01048594;ABBA01048595;AK057426;AL163051;AL359240;AMYH02029803;AMYH02029804;AMYH02029805;AMYH02029806;BC023986;BC035256;BM981526;CH471061;NM_152327;XM_006720021;XM_006720022;XM_006720023 ABM82637;ABM85814;BAB71480;EAW81636;EAW81637;EAW81638;EAW81639;EAW81640;NP_689540;Q96M32;XP_006720084;XP_006720085;XP_006720086 Hs.667462 1335033;1744331;2125307;2151981;2154800 D10S1151;G35398;G35577;G35998;GDB:451706 AK 7;FLJ32864 ATP-AMP transphosphorylase 7;OTTHUMP00000246000;putative adenylate kinase 7 protein-coding ENSG00000140057 HGNC:20091 10640 615364 VALIDATED 1350831 AK8 adenylate kinase 8 ENCODES a protein that exhibits adenylate kinase activity; cytidylate kinase activity; nucleoside diphosphate kinase activity; INVOLVED IN nucleoside diphosphate phosphorylation; nucleoside triphosphate biosynthetic process; FOUND IN cytoplasm (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); cadmium dichloride (ortholog); chloroprene (ortholog) 9 9 9 q34.13 106142640 106295933 - 135600958 135754198 - 132725571 132878811 - 737633;6480464 12477932 14702039;17207965;18839057;19240061;20379614;21080915;23251661;23377640;23455924 158067 Q8N9Z7;Q96MA6 ABBA01032479;ABBA01032480;ABBA01032481;AK057266;AK093333;AK093446;AK292186;AL160165;AL445645;AMYH02021813;AMYH02021814;AMYH02021815;AMYH02021816;AMYH02021817;BC034776;BC037402;BC050576;CH471090;NM_152572;XM_005272169;XM_006716964;XM_006716965 AAH34776;AAH50576;ADQ31793;BAB71402;BAC04134;BAC04168;BAF84875;EAW88012;EAW88013;EAW88014;EAW88015;EAW88016;EAW88017;NP_689785;Q96MA6;XP_005272226;XP_006717027;XP_006717028 Hs.421340 1336184;1650490;1713503;1752873;1759605;2112010;2126554;2130472;5127953 D9S1830;D9S2126;RH120235;SGC31362;SHGC-106791;SHGC-151232;SHGC-152457;SHGC-34984;STS-H71035 AK 8;C9orf98;DDX31;FLJ32704;FLJ36014;RP11-143F18.1 ATP-AMP transphosphorylase 8;OTTHUMP00000022737;putative adenylate kinase-like protein C9orf98 APPROVED protein-coding ENSG00000165695 HGNC:26526 12991 615365 VALIDATED 1354002 AK9 adenylate kinase 9 ENCODES a protein that exhibits nucleoside diphosphate kinase activity; nucleoside phosphate kinase activity; INVOLVED IN ADP phosphorylation; AMP phosphorylation; CDP phosphorylation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; nuclear membrane; nucleus; INTERACTS WITH atrazine; cyclosporin A; ethyl methanesulfonate 6 6 6 q21 110560655 110759036 - 109814059 110012415 - 109492856 109691212 - 6480464;8554872 11181995;12477932;14574404;14702039;15489334;16169070;16344560;19684573;20379614;20602751;21145461;21963094;23416111;24250222 221264 Q5TCS8 ABBA01026124;ABBA01026125;AK055538;AK098657;AK124171;AK131244;AK315561;AL109947;AL121788;AL133472;AL139391;AL832162;AMYH02014281;AMYH02014282;AMYH02014283;BC022031;BC087860;BC101714;BC111948;BC143533;CH471051;DA106296;DW009925;NM_001145128;NM_145025;XM_006715376 AAH22031;AAH87860;AAI01715;AAI11949;AAI43534;AAI46444;AAI53056;ACE86533;ACE87212;BAB70945;BAC05368;BAD18424;BAG37937;EAW48333;EAW48334;EAW48335;EAW48336;NP_001138600;NP_659462;Q5TCS8;XP_006715439 Hs.205144 AK 9;AKD1;AKD2;C6orf199;C6orf224;FLJ34784;FLJ42177;MGC26954;RP1-70A9.1;dJ70A9.1 adenylate kinase domain containing 1;adenylate kinase domain containing 2 APPROVED protein-coding ENSG00000155085 HGNC:33814 12871 615358 PROVISIONAL 1343676 AKAP1 A kinase (PRKA) anchor protein 1 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008] 17 17 17 q22 51624091 51660266 + 55162553 55198710 + 57085092 57121349 + 1580863;2312475;2312477;2313128;6480464;6484113;8554872 14715913;18323779;19319965 10352013;10413680;10764601;10995432;11483602;11546661;11807172;12223483;12414807;12477932;12634056;12697839;14759258;15143158;15302935;15489334;16344560;17884635;18029348;18625701;18786546;19074462;19615732;19750561;19946888;20308539;20677014;20877624;21139048;21832049;21890473;21994574;22807343;23000965;23045525;23077346;23455922;23557075;24583282;7499250;8769136;8889548;9065479;9238861 8165 B4DN86;I3L0K6;I3L0V5;I3L0W0;I3L2A2;I3L2N7;I3L364;I3L3K1;I3L3L9;I3L3V6;I3NI36;Q92667 ABBA01041310;AC007114;AF015910;AK292416;AK297810;AK308397;AMYH02033668;BC000729;BM711930;CB048239;CD172211;CH471109;DA092401;DA455114;NG_029985;NM_001242902;NM_001242903;NM_003488;U34074;X97335;XM_005257707;XM_005257709;XM_006722126;XM_006722127;XR_243684 AAB64298;AAC50279;AAH00729;ABM84528;ABW03447;BAF85105;BAG60148;CAA66000;EAW94515;EAW94516;EAW94517;EAW94518;NP_001229831;NP_001229832;NP_003479;Q92667;XP_005257764;XP_005257766;XP_006722189;XP_006722190 Hs.463506 1712138;1767072;1783634;1847410;2149689;2160780;2218208;5114061 AKAP1__4276;D17S1372E;D17S1559;G54119;RH69729;RH91665;SHGC-172273;WI-20688 AKAP;AKAP121;AKAP149;AKAP84;D-AKAP1;MGC1807;PPP1R43;PRKA1;SAKAP84;TDRD17 A-kinase anchor protein 1, mitochondrial;A-kinase anchor protein 149 kDa;A-kinase anchor protein, 149kD;AKAP 149;D-AKAP-1;OTTHUMP00000179121;dual specificity A-kinase-anchoring protein 1;dual-specificity A-kinase anchoring protein 1;protein kinase A anchoring protein 1;protein kinase A-anchoring protein 1;protein kinase A1;protein kinase anchoring protein 1;protein phosphatase 1, regulatory subunit 43;spermatid A-kinase anchor protein 84;tudor domain containing 17 APPROVED protein-coding ENSG00000121057 HGNC:367 03905 602449 REVIEWED 70080 AKAP10 A kinase (PRKA) anchor protein 10 This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012] 17 17 17 p11.1 17222124 17295198 - 19807765 19881169 - 19904452 19977856 - 1580863;2312475;2312477;6480464;7240710 14715913;19319965 11248059;11807172;12206784;12477932;12646697;14531806;15342556;15488188;15489334;16956908;17143557;17485678;17786291;18029348;19056482;19209010;19462906;19496216;19578796;19797056;19857670;20159461;20171186;20453000;20877624;21701445;22139419;22817328;22863883;23092224;23095189;23468363;7505766;9238861;9326583 11216 E7EMD6;I3L177;I3L479;I3NI04;J3QL61;J3QR74;J3QRM7;K7EM25;O43572 ABBA01054591;ABBA01054592;AC005730;AC015726;AF037439;AK295180;AK308297;AK312438;AMYH02033175;AMYH02033176;AMYH02033177;BC017055;BP229845;CH471212;DQ270159;NG_011493;NM_007202;U00957;XM_006721431;XM_006721432;XM_006721433;XR_243536 AAB92260;AAH17055;ABB76684;ABM82403;ABM85592;BAG35347;BAH12002;EAW50913;NP_009133;O43572;XP_006721494;XP_006721495;XP_006721496 Hs.642676 1734496;2109031;2160800;2181561;2185091 AKAP10_9241;D17S1447E;RH65769;SHGC-53199;WI-19974 AKAP-10;D-AKAP-2;D-AKAP2;MGC9414;PRKA10 A-kinase anchor protein 10, mitochondrial;OTTHUMP00000065850;a kinase anchor protein 10;dual specificity A kinase-anchoring protein 2;dual-specificity A-kinase anchoring protein 2;mitochondrial A kinase PPKA anchor protein 10;protein kinase A anchoring protein 10;protein kinase A-anchoring protein 10 APPROVED protein-coding ENSG00000108599 HGNC:368 05259 115080;604694 REVIEWED 6481064 AKAP11-IT1 AKPA11 intronic transcript 1 (non-protein coding) 100874349 AL136527 miscrna HGNC:39939 736276 AKAP11 A kinase (PRKA) anchor protein 11 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008] 13 13 13 q14.11 23903720 23954839 + 42846261 42897403 + 42272125 42323267 + 632175;1580863;2312475;2312477;2312637;6480464;8554872 14715913;18385542;19319965;8621616 10209101;10737800;10864471;11152471;11807172;11823486;12147701;12168954;12672969;14702039;15057823;16344560;17353931;18029348;19801982;21139048;21145461;21890473;21890631;22504420;23402259;23455922;23602568;23667531;24249740;9238861;9734811 11215 Q6AI61;Q9UKA4 AB014529;ABBA01021255;AF176555;AK002166;AK074384;AL136527;AMYH02027930;BE670178;BE694434;CH471075;CR627087;DA780016;NM_016248;XM_005266247;XM_005266248;XM_005266249;XM_005266250 AAF07045;AAI56136;AAI72498;BAA31604;BAA92117;CAH10362;EAX08676;EAX08677;NP_057332;Q9UKA4;XP_005266304;XP_005266305;XP_005266306;XP_005266307 Hs.105105 1655997;1681530;2115400;5024039;5037552;5109281 D16S325;D1S1425;D8S2279;RH92944;STS-H70800;STS-Z40816 AKAP-11;AKAP220;DKFZp781I12161;FLJ11304;KIAA0629;PPP1R44;PRKA11;hAKAP220 A-kinase anchor protein 11;A-kinase anchor protein 220 kDa;A-kinase anchoring protein, 220kDa;OTTHUMP00000018327;a kinase anchor protein 220 kDa;protein kinase A anchoring protein 11;protein kinase A-anchoring protein 11;protein phosphatase 1, regulatory subunit 44 APPROVED protein-coding ENSG00000023516 HGNC:369 05261 604696 REVIEWED 736118 AKAP13 A kinase (PRKA) anchor protein 13 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] 15 15 15 q24-q25 62323846 62692414 + 85923818 86292589 + 85380587 85749358 + 2312475;2312477;6480464;8554872 14715913;19319965 11278452;11285229;11546812;11579095;11696353;11756498;12270917;12376548;12423633;12477932;12663445;12672969;12787561;12972258;14636890;14660653;14702039;15229649;15249197;15324660;15383279;15489334;15691829;1618839;16234258;16301118;16412732;16469733;16956908;16964243;17081983;17353931;17878165;18029348;18093280;18445682;18519826;1860836;18854154;19696020;19779964;19888694;19911011;19946888;19960345;20353833;20379614;20696764;20719862;20936779;21102438;21139048;21224381;21228793;21890473;22161024;22731613;23045525;23090968;23291589;23535375;23583980;7929081;8290273;9627117;9891067 11214 A8MYJ1;B0AZU4;H0YK18;H0YK84;H0YLH1;H0YMI5;H0YMW2;Q12802 AB055890;AB209414;ABBA01052961;ABBA01052962;ABBA01052963;ABBA01052964;ABBA01052965;ABBA01052966;ABBA01052967;ABBA01052968;AC021739;AC087286;AC104046;AC110592;AF086293;AF126008;AF387101;AF406992;AK022014;AK026186;AK091210;AK125331;AK307618;AK309805;AK315885;AL133426;AL133427;AL133429;AL133430;AL135297;AMYH02030965;AMYH02030966;AMYH02030967;AMYH02030968;AMYH02030969;AMYH02030970;BC000269;BC009213;BC017368;BC019662;BC040109;BC050312;BC063592;BC089394;BC140862;BC171798;CA306665;CH471101;KC832804;KC877559;KC877571;M90360;NM_001270546;NM_006738;NM_007200;XM_005254839;XM_005254840;XM_005254841;XM_005254842;XM_005254843;XM_005254844;XM_005254845;XM_005254846;XM_005254847;XM_005254848;XM_005254849;XM_005254850;XM_005254851;XM_005254852;XM_005254853;XM_005254854;XM_005254855;XM_005254856;XM_006720376;XM_006720377;XM_006720378 AAA58670;AAD21311;AAH50312;AAI40863;AAI71798;AAI72356;AAL11723;AAL40923;BAB62913;BAD92651;BAF98776;EAX01973;EAX01974;EAX01975;EAX01976;NP_001257475;NP_006729;NP_009131;Q12802;XP_005254896;XP_005254897;XP_005254898;XP_005254899;XP_005254900;XP_005254901;XP_005254902;XP_005254903;XP_005254904;XP_005254905;XP_005254906;XP_005254907;XP_005254908;XP_005254909;XP_005254910;XP_005254911;XP_005254912;XP_005254913;XP_006720439;XP_006720440;XP_006720441 Hs.459211;Hs.710656 1334766;1654266;1663226;1682109;1682944;1693484;1715643;1718225;1728485;1756327;1757675;1761215;1767784;1783200;1783202;1848591;2118503;2142752;2162269;2168769;2172333;2172335;2218206;5020274;5023733;5109281 168XA11;A006F31;AKAP13__4278;AU048745;D15S932;D15S999;D1S1425;G20767;G63680;L18441;RH119267;RH122882;RH47095;RH70067;RH92626;RH92649;SHGC-143312;SHGC-145225;SHGC-146217;SHGC-148480;SHGC-149380;SHGC-53698;SHGC-58194;SHGC-58426;STS-H98167;WI-16595 AKAP-13;AKAP-Lbc;ARHGEF13;BRX;FLJ11952;FLJ43341;HA-3;Ht31;LBC;PRKA13;PROTO-LB;PROTO-LBC;c-lbc;p47 A-kinase anchor protein 13;A-kinase anchoring protein;LBC oncogene;breast cancer nuclear receptor-binding auxiliary protein;guanine nucleotide exchange factor Lbc;human thyroid-anchoring protein 31;lymphoid blast crisis oncogene;non-oncogenic Rho GTPase-specific GTP exchange factor;protein kinase A-anchoring protein 13 APPROVED protein-coding ENSG00000170776 HGNC:371 05253 604686 REVIEWED 737243 AKAP12 A kinase (PRKA) anchor protein 12 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 q24-q25 152295018 152413580 + 151561134 151679694 + 151239999 151358559 + 1580863;2312475;2312477;6480464 14715913;19319965 10858453;11309381;11316952;11766078;11807172;12477932;12857743;14657015;1522245;15258566;15345747;15590635;15923193;16344560;16642035;16751776;16762919;17081159;17081983;17200117;17442483;17442832;17577780;18029348;18199717;18397319;18554502;18579430;18950703;19210988;19724895;19851296;20018890;20029029;20198315;20360068;20364105;20939879;20979053;21115911;21139048;21310466;21461577;21540461;21890473;21900206;21903576;21906983;21918680;22584896;22710722;22863883;23000965;23063527;23254330;23443559;23543478;23838009;24042196;24065476;9000000;9238861;9604001;9880537 9590 Q02952;Q86TJ9 AB003476;AB210003;ABBA01025642;ABBA01025643;ABBA01025644;ABBA01025645;ABBA01025646;ABBA01025647;ABBA01025648;ABBA01025649;ABBA01025650;AF001504;AF086250;AK024598;AK307578;AK307673;AK307739;AL033392;AL356535;AL590413;AMYH02014723;BC000188;BC015830;BC022814;BC033829;BC046095;BC047728;BC070151;BC117679;BC117680;CH471051;CN480611;CR749527;CR936604;DA055364;DQ584338;M96322;NG_029875;NM_005100;NM_144497;U81607;XM_005267233;XM_005267234;XM_005267235 AAA35931;AAB58938;AAC51366;AAH47728;AAH70151;AAI56287;AAI57068;BAA19927;BAE06085;CAH18338;CAI56750;EAW47753;EAW47754;EAW47755;NP_005091;NP_653080;Q02952;XP_005267290;XP_005267291;XP_005267292 Hs.371240 1669737;1684158;1713089;1730321;1777106;1778913;1779021;1847786;2106415;2119889;2120062;2131846;2180842 AKAP12__4277;D6S1869;D6S320E;D6S476;RH120332;RH1532;RH48460;RH94092;SHGC-30338;SHGC-31130;SHGC-33357;SHGC-34852;STS-M96322 AKAP250;DKFZp686M0430;DKFZp686O0331;FLJ20945;FLJ97621;SSeCKS A-kinase anchor protein 12;A-kinase anchor protein 250 kDa;A-kinase anchor protein, 250kDa;AKAP 250;AKAP-12;OTTHUMP00000017426;OTTHUMP00000017427;Src-Suppressed C Kinase Substrate;kinase scaffold protein gravin;myasthenia gravis autoantigen gravin APPROVED protein-coding ENSG00000131016 HGNC:370 05263 604698 REVIEWED 1353822 AKAP14 A kinase (PRKA) anchor protein 14 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] X X X q24 119484561 119509308 + 119029936 119054679 + 119895973 119920716 + 2312475;2312477;6480464 14715913;19319965 11329013;12475942;12477932;15489334 158798 Q86UN6 ABBA01036613;ABBA01036614;ABBA01110425;ABBA01179529;AC002477;AF514780;AF514781;AF514782;AMYH02040347;AMYH02040348;BC066357;BG208671;CH471161;NG_013218;NM_001008534;NM_001008535;NM_178813 AAH66357;AAP20825;AAP20826;AAP20827;EAW89839;NP_001008534;NP_001008535;NP_848928;Q86UN6 Hs.592245 1773606;1774114;2123204;5114008 RH18491;RH47102;RH92064;WI-17367 AKAP28;PRKA14 A-kinase anchor protein 14;A-kinase anchor protein 28 kDa;A-kinase anchoring protein 28;AKAP 28;AKAP-14;OTTHUMP00000023927;OTTHUMP00000023928;OTTHUMP00000023929;protein kinase A-anchoring protein 14 APPROVED protein-coding ENSG00000186471 HGNC:24061 02353 300462 REVIEWED 4143131 AKAP17BP A kinase (PRKA) anchor protein 17B, pseudogene INTERACTS WITH acetazolamide (ortholog); cerium trichloride (ortholog); dibutyl phthalate (ortholog) X X X q24 118845611 118846351 - 118390881 118391621 - 119256918 119257658 - 6480464 17302988 139516 ABBA01036706;AC004835;AMYH02040326;NG_022632 AKAP16B;AKAP16BP APPROVED pseudo HGNC:38514 INFERRED 1606031 AKAP17A A kinase (PRKA) anchor protein 17A This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010] X X;Y X;Y p22.33 and Yp11.32 5988649 5999070 + 1710486 1721413 + 1591593 1602520 + 6480464 12477932;1302606;1438229;14759258;15489334;16189514;16982639;17081983;17353931;19840947;21139048;24250222;24778252;8889548;9736779 8227 Q02040;Q05DA9;X6RAJ1 ABBA01055713;AK308367;AL683807;AMYH02038692;BC015800;BC016935;BC028151;BC110496;BC110497;BM046630;BM713425;CH471074;L03426;M99578;NG_016337;NG_021470;NM_005088;NR_027383 AAA36187;AAA61303;AAA61304;AAH16935;AAH28151;AAI10497;AAI10498;EAW98687;NP_005079;Q02040 Hs.522572 1683403;1748463;1848069;2177147;5017879 CXYorf3;DXYS155E;RH69211;SHGC-5417;SHGC-64829 721P;AKAP-17A;CCDC133;CXYorf3;DXYS155E;FLJ98315;MGC125365;MGC125366;MGC39904;PRKA17A;SFRS17A;XE7;XE7Y A-kinase anchor protein 17A;B-lymphocyte surface antigen;OTTHUMP00000022831;OTTHUMP00000022832;OTTHUMP00000022833;protein kinase A-anchoring protein 17A;pseudoautosomal gene XE7;splicing factor, arginine/serine-rich 17A APPROVED protein-coding ENSG00000197976 HGNC:18783 02419 312095;465000 REVIEWED 1312990 AKAP2 A kinase (PRKA) anchor protein 2 The protein encoded by this gene binds to the regulatory subunit of protein kinase A and is found associated with the actin cytoskeleton. The encoded protein mediates signals carried by cAMP and may be involved in creating polarity in certain signaling processes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 9 9 9 q31.3 83312619 83436417 + 112810878 112934792 + 110048598 110172512 + 2312475;2312477;6480464 14715913;19319965 10231032;11181995;11478809;12477932;12646697;12672969;14702039;15146197;16344560;17081983;17474147;18649358;18978678;19893584;20306291;21906983;22456796;22863883;24281739;24816145;9497389 11217 C9JVY5;F8WF36;Q9Y2D5 ABBA01042752;AJ420463;AK000306;AK022693;AK057098;AK300427;AK304311;AK308388;AL110268;AL158823;AL353598;AMYH02021447;AMYH02021448;BC010513;BC146863;BC171800;BE674805;CH471105;CN302358;CX872067;DA564383;DB212465;DB287164;DC422367;N51499;NG_028265;NM_001004065;NM_001136562;NM_001198656 AAI46864;AAI71800;BAG51862;BAG62154;BAG65164;CAB53707;EAW59049;EAW59050;NP_001004065;NP_001130034;NP_001185585;Q9Y2D5 Hs.591908 1656172;1699026;1700112;1704536;1711454;1727381;1749595;1753827;1755889;1779502;2122605;2185400;5105685 G36153;G47279;G63098;RH103086;RH103669;SHGC-100579;SHGC-111282;SHGC-142729;SHGC-142818;SHGC-153477;SHGC-83065;STS-AA007589;STS-AA040279 AKAP-2;DKFZp564L0716;FLJ53197;FLJ98336;PALM2;PRKA2 A-kinase anchor protein 2;AKAPKL;OTTHUMP00000021891;OTTHUMP00000210714;OTTHUMP00000215854;protein kinase A anchoring protein 2;protein kinase A-anchoring protein 2;protein kinase A2 APPROVED protein-coding ENSG00000241978 HGNC:372 604582 REVIEWED 1348905 AKAP3 A kinase (PRKA) anchor protein 3 This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013] 12 12 12 p13.3 6346705 6376375 - 4723837 4758213 - 4614671 4649047 - 1580863;2312475;2312477;6480464;8554872 14715913;19319965 10319321;10334916;10529264;11278869;11696326;11807172;12477932;12509440;12606363;14618620;15257753;16005946;16344560;17683036;18421703;21240291;22941507;23077236;9238861 10566 F5H2S4;F5H7P4;O75969;V9HWD4 ABBA01048764;AC005832;AF087003;AF093408;AI004486;AK074722;AK292451;AMYH02025927;AMYH02025928;BC047535;CH471116;DB083340;EU794681;NM_001278309;NM_006422;U85715;XM_005253664;XM_005253665;XM_006718951 AAC35854;AAC63371;AAD21218;AAH47535;ACJ13735;BAF85140;BAG51992;EAW88840;NP_001265238;NP_006413;O75969;XP_005253721;XP_005253722;XP_006719014 Hs.98397 1676530;2108689 AKAP3_9143;RH92971 AKAP 110;AKAP-3;AKAP110;CT82;FSP95;HEL159;PRKA3;SOB1 A-kinase anchor protein 110 kDa;A-kinase anchor protein 3;A-kinase anchor protein, 110kDa;Fibrous Sheath Protein of 95 kDa;OTTHUMP00000238368;cancer/testis antigen 82;epididymis luminal protein 159;fibrous sheath protein, 95kDa;fibrousheathin 1;fibrousheathin I;fibrousheathin-1;protein kinase A anchoring protein 3;protein kinase A binding protein AKAP 110;protein kinase A-anchoring protein 3;sperm oocyte-binding protein 1 APPROVED protein-coding ENSG00000111254 HGNC:373 05256 604689 REVIEWED 732830 AKAP4 A kinase (PRKA) anchor protein 4 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X X p11.2 54024511 54034765 - 49955411 49965664 - 50190768 50201013 - 1580863;2312475;2312477;6480464;8554872 14715913;19319965 11476771;11807172;12477932;12509440;12606363;15489334;15772651;17683036;17712481;21520158;23077236;23451156;23478221;23764900;9238861;9514854;9822690;9852104 8852 Q5JQC9 ABBA01063330;ABBA01063331;AC235789;AF072756;AK292463;AMYH02039358;AMYH02039359;BC033007;BC070150;BC126250;BC126252;CH471180;HC006776;HC044697;NG_012552;NM_003886;NM_139289;Y15195 AAC79433;AAI26251;AAI26253;BAF85152;CAA75494;CBH19194;CBH30678;EAW89924;EAW89925;EAW89926;NP_003877;NP_647450;Q5JQC9 Hs.97633 1686470;2107819;5022798 AKAP4;AKAP4_8867;RH92753 AKAP 82;AKAP-4;AKAP82;CT99;FSC1;HI;PRKA4;hAKAP82;p82 75 kda fibrous sheath protein;A-kinase anchor protein 4;A-kinase anchor protein 82 kDa;OTTHUMP00000023288;OTTHUMP00000023289;OTTHUMP00000023290;OTTHUMP00000023291;cancer/testis antigen 99;major sperm fibrous sheath protein;protein kinase A anchoring protein 4;protein kinase A-anchoring protein 4;testis-specific gene HI APPROVED protein-coding ENSG00000147081 HGNC:374 02173 300185 REVIEWED 1345297 AKAP5 A kinase (PRKA) anchor protein 5 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008] 14 14 14 q23.3 44989946 44998950 + 64932217 64941221 + 64465499 64474503 + 1580863;2313287;2312475;2312477;2313290;2313247;6480464;8554872 10460255;11248077;12542670;14715913;19319965 10037748;10537145;10753752;10762347;10939335;11179200;11287423;11557526;11807172;11823486;11886862;12077483;12114507;12177200;12477932;12507994;12595241;12672969;12938160;1512224;15671033;1618839;16344560;16940053;16973443;17081159;1733921;17548344;18305116;18311135;1860836;18950703;20410303;20883492;21139048;21156788;21221125;21464287;21771783;22343722;22623657;22677788;22693956;23264624;23383244;23455922;23462372;23616546;23699529;23889134;24121510;7528941;8509414;9202019;9238861;9765270 9495 P24588;Q6PG46 ABBA01018362;AK315336;AL122035;AMYH02029357;BC057229;BC131516;CH471061;DA942424;M90359;NG_033983;NM_004857 AAA58363;AAH57229;AAI31517;BAG37736;EAW80862;NP_004848;P24588 Hs.656683 1669365;1776335;2136104;2218210;5014051;5015961;5016596;5022200;5037552;5116670 AKAP5__4279;D15S1477;D8S2278;D8S2279;G35386;GDB:631802;L18426;RH17748;SHGC-24381;sY3122 AKAP 79;AKAP-5;AKAP75;AKAP79;H21 A-kinase anchor protein 5;A-kinase anchor protein 79 kDa;A-kinase anchor protein, 79kDa;A-kinase anchoring protein 75/79;OTTHUMP00000174435;cAMP-dependent protein kinase regulatory subunit II high affinity binding protein;cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein APPROVED protein-coding ENSG00000179841 HGNC:375 05255 604688 REVIEWED 1350760 AKAP7 A kinase (PRKA) anchor protein 7 This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011] 6 6 6 q23 132213109 132351308 + 131456826 131604675 + 131135686 131283535 + 1580863;2312475;2312477;2312630;1303982;2312656;6480464 14715913;15037626;17901878;18431594;19319965 10613906;11299204;12477932;12672969;12804576;14574404;15489334;16344560;17244820;17643375;18082768;19615732;20379614;22670899;23455922;23502783;24302730;9545239 9465 F5GXD1;F5H4P9;H0YH01;J3KN37;O43687;Q2TAJ5;Q6P4D3;Q9P0M2 AB451273;AB451400;ABBA01025896;AF152929;AF161075;AK290271;AK300587;AK311820;AL136110;AL137063;AL137222;AMYH02014489;AMYH02014490;AW236482;BC016927;BC063499;BC073847;BC094732;BC110897;BC118601;BC118606;BC128398;BC128399;BC141926;BC141927;CH471051;DA144596;DN998807;NG_029123;NM_004842;NM_016377;NM_138633;XM_005267228;XM_005267229;XM_006715614;XR_427979 AAF26676;AAF28106;AAH16927;AAH63499;AAH73847;AAH94732;AAI10898;AAI18602;AAI18607;AAI28399;AAI28400;AAI41927;AAI41928;AAI52941;AAI56907;BAF82960;BAG34762;BAG62285;BAG70087;BAG70214;EAW48057;EAW48058;EAW48059;EAW48060;NP_004833;NP_057461;NP_619539;O43687;Q9P0M2;XP_005267285;XP_005267286;XP_006715677 Hs.486483;Hs.732515 1338849;1658069;1681324;1763529;1852545;1856918;2156479;2166896;2191487;5019623 A005L17;D11S2302E;D6S1214E;D6S435;G32235;MARC_23907-23908:1042828544:1;RH26812;RH78380;SHGC-147229;SHGC-1826 AKAP15;AKAP18 A-kinase anchor protein 18 kDa;A-kinase anchor protein 7 isoform alpha;A-kinase anchor protein 7 isoform gamma;A-kinase anchor protein 7 isoforms alpha and beta;A-kinase anchor protein 7, isoform alpha;A-kinase anchor protein 9 kDa;A-kinase anchor protein, 18-kD;A-kinase anchoring protein 18;AKAP 18;AKAP-7 isoform gamma;AKAP-7 isoforms alpha and beta;OTTHUMP00000017200;OTTHUMP00000017201;OTTHUMP00000017202;OTTHUMP00000239966;PRKA7 isoform gamma;PRKA7 isoforms alpha/beta;protein kinase A anchoring protein 7;protein kinase A-anchoring protein 7 isoform gamma;protein kinase A-anchoring protein 7 isoforms alpha/beta APPROVED protein-coding ENSG00000118507 HGNC:377 16065 604693 REVIEWED 69458 AKAP6 A kinase (PRKA) anchor protein 6 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008] 14 14 14 q12 12665076 13167767 + 32798479 33302268 + 32329273 32833062 + 1580863;2312475;2312477;68716;6480464;8554872 11296225;14715913;19319965 10413680;10830164;11299204;11352932;11590243;11807172;12168954;12477932;12672969;12754202;14702039;15342556;15840729;16177794;17043677;17110338;17474147;17923693;19109240;20106966;20677014;21079607;21150319;22484155;22566634;22581228;23806656;7721854;9205841;9238861;9679148 9472 B2RP22;G3V3B5;G3V3H2;G3V3H6;G3V3H7;G3V569;H0YJT7;Q13023 AB002309;ABBA01061432;ABBA01061433;ABBA01061434;ABBA01061435;ABBA01061436;AK094160;AL049781;AL117672;AL132988;AL136298;AMYH02028962;AMYH02028963;AMYH02028964;AMYH02028965;BC137232;BC137233;BC150185;BC150288;BC154413;BP230135;CH471078;KF455853;NM_004274;U17195;XM_005268219 AAA92354;AAI37233;AAI37234;AAI50186;AAI50289;AAI54414;BAA20770;EAW65931;EAW65932;EAW65933;NP_004265;Q13023;XP_005268276 Hs.509083 1341133;1654236;1655120;1663304;1688312;1709950;1719371;1736464;1772328;1772389;1774223;2141563;2160398;2218984 AKAP6__4280;D14S121;D14S1236;D14S717E;G17798;G36054;L18177;RH123413;RH45526;RH69589;RH91259;SHGC-37333;SHGC-82243;WI-14096 ADAP100;ADAP6;AKAP 100;AKAP-6;AKAP100;KIAA0311;MGC165020;PRKA6 A-kinase anchor protein 100 kDa;A-kinase anchor protein 6;OTTHUMP00000178791;OTTHUMP00000244101;OTTHUMP00000244103;mAKAP;protein kinase A anchoring protein 6;protein kinase A-anchoring protein 6 APPROVED protein-coding HGNC:376 05257 604691 REVIEWED 731444 AKAP8 A kinase (PRKA) anchor protein 8 This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011] 19 19 19 p13.1 15359984 15386240 - 15464332 15490638 - 15353521 15379824 - 1580863;2312475;2312477;6480464 14715913;19319965 10601332;10791967;11279182;11807172;11964380;12414807;12477932;12740381;14641107;14743216;15057824;15302935;15470020;16227597;16964243;17081983;17314511;17400507;18029348;19277197;19322201;19946888;20360068;20508642;21145461;21150319;21182205;21252943;22113938;22446626;22944692;22990118;23602568;23752268;23995757;24250222;24332808;24457600;24816145;25027693;9238861;9473338 10270 M0QX51;M0QYL4;O43823 ABBA01051110;AC005785;AC093060;AI581319;AK303640;AK308251;AK309529;AL050160;AMYH02035656;AMYH02035657;BC037270;CA429585;CH471106;DR005936;NM_005858;XM_005259706;XR_244062;Y11997 AAC62838;AAH37270;BAH14004;CAA72722;CAB43301;EAW84474;NP_005849;O43823;XP_005259763 Hs.594496 1699724;2107821;2148325;2186052;5017803 AKAP8;AKAP8_9079;RH103467;RH48708;WI-17314 AKAP 95;AKAP-8;AKAP-95;AKAP95;DKFZp586B1222 A-kinase anchor protein 8;A-kinase anchor protein 95 kDa;A-kinase anchor protein, 95kDa APPROVED protein-coding ENSG00000105127 HGNC:378 05258 604692 REVIEWED 8548077 AKAP8P1 A kinase (PRKA) anchor protein 8 pseudogene 1 9 9 9 p23 10944515 10945864 + 11011749 11013098 + 11011749 11013098 + 646114 ABBA01065338;AL162413;AL354952;AMYH02019160;NG_021607 pseudo HGNC:49758 INFERRED 1347470 AKAP8L A kinase (PRKA) anchor protein 8-like ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nuclear matrix; nucleus; INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; cobalt dichloride 19 19 19 p13.12 15386496 15425477 - 15490859 15529916 - 15380048 15419105 - 1580863;6480464;8554872 10697960;10748171;10761695;11034899;11402034;12107412;12477932;12538639;12950172;14702039;14743216;15302935;15489334;16391387;17314511;17353931;17594903;18313049;18457437;20360068;21139048;21145461;21252943;21890473;21906983;22190034;22990118;23275444;23455922;23752268;24250222;24255178;24457600;24726327;24816145;25027693;25036637;8125298;8889548;9853615 26993 M0QYT7;M0R008;M0R010;M0R1L5;M0R1Y5;Q9ULX6;V9GZ50 AB015332;AB025905;AB451326;AB451469;ABBA01051110;ABBA01051111;ABBA01051112;AC005785;AC006128;AF199414;AJ243467;AK001594;AK094736;AK225046;AK225291;AK295956;AK310990;AL133576;AMYH02035657;BC000713;BF973758;BI458860;BM726437;BQ006924;BQ185989;BU740636;CD244113;CD672169;CH471106;DA315789;DB099586;KF456508;KF456511;NM_001291478;NM_014371;NR_111971;XM_005259854;XR_244065;XR_244066;XR_430135 AAF86048;AAH00713;ABM82779;ABM85969;BAA34791;BAA85003;BAG50946;BAG58736;BAG70140;BAG70283;CAB63723;CAB65092;EAW84475;EAW84476;EAW84477;EAW84478;NP_001278407;NP_055186;Q9ULX6;XP_005259911 Hs.399800 1699724;1700124;1725091 RH103467;RH103675;RH118841 DKFZp434L0650;HA95;HAP95;NAKAP95 A-kinase anchor protein 8-like;AKAP8-like protein;NAKAP;helicase A-binding protein 95 kDa;homologous to AKAP95 protein;neighbor of A kinase anchoring protein 95;neighbor of A-kinase anchoring protein 95;neighbor of A-kinase-anchoring protein 95;neighbor of AKAP95 protein-coding ENSG00000011243 HGNC:29857 10641 609475 VALIDATED 1604680 AKD1 adenylate kinase domain containing 1 ENCODES a protein that exhibits ATP binding (inferred); nucleobase-containing compound kinase activity (inferred); INVOLVED IN nucleobase-containing compound metabolic process (inferred); phosphorylation (inferred); FOUND IN nuclear membrane; nucleolus; nucleus; INTERACTS WITH valproic acid q21 6480464 11181995;12477932 401271 E9PPM3;E9PPU7;H0Y8C5;H0YCD1;H7C505;H7C517;J3KP89 AK131244;AL109947;AL121788;AL139391;BC087860;CH471051;NM_001001706;NM_001146303 AAH87860;AAI46444;AAI53056;BAD18424;EAW48336;NP_001001706;NP_001139775;Q6ZNF1 Hs.205144 1679764;1715447;1718753;2113814 AB069993;RH120887;RH123066;RH94382 FLJ42177 protein-coding HGNC:33814 16957 1315871 AKIP1 A kinase (PRKA) interacting protein 1 This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] 11 11 11 p15.3 9052466 9061391 + 8932701 8941626 + 8911150 8920079 + 6480464 11528127;12477932;12527432;14702039;15342556;15489334;15630084;16998474;17207965;18178962;18624398;19322201;19913121;20562110;20628086;22990118;23319652;24250222;24659101;8889548 56672 B4DGE2;E9PN38;E9PNI1;E9PPN7;H0YCH8;Q9NQ31 ABBA01061203;AC026894;AF493783;AF493784;AF493785;AF493786;AF512007;AJ400877;AK075308;AK294506;AK294549;AMYH02024299;AW340643;BC030996;BM706322;BP355293;CH471064;CQ783908;DB570956;NG_030417;NM_001206646;NM_001206647;NM_001206648;NM_020642;NR_045417;NR_045418;XM_006718264 AAH30996;AAM12862;AAM12863;AAM12864;AAM12865;AAM12866;AAM12867;AAM34785;ADQ32228;BAC11537;BAG57722;BAG57753;CAB92290;CAF86919;EAW68614;EAW68615;EAW68616;NP_001193575;NP_001193576;NP_001193577;NP_065693;Q9NQ31;XP_006718327 Hs.131180 1685131;2116397;5014051;5037552 D8S2278;D8S2279;RH93941;SHGC-76220 BCA3;C11orf17 A-kinase-interacting protein 1;OTTHUMP00000230630;OTTHUMP00000230631;OTTHUMP00000230632;OTTHUMP00000230633;OTTHUMP00000230634;OTTHUMP00000230635;OTTHUMP00000230636;OTTHUMP00000230637;OTTHUMP00000230638;OTTHUMP00000230639;OTTHUMP00000230640;PKA-interacting protein;breast cancer associated gene 3;breast cancer-associated gene 3 protein;koyt binding protein 1;koyt binding protein 2;koyt binding protein 3;proline-rich protein BCA3;protein kinase A-interacting protein 1 APPROVED protein-coding ENSG00000166452 HGNC:1170 12380 609191 REVIEWED 1349720 AKAP9 A kinase (PRKA) anchor protein 9 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008] 7 7 7 q21-q22 86274770 86444535 + 91570181 91739987 + 91940867 92110673 + 631928;1580863;2312475;2312477;6480464;7240710;8554872;8699517 14715913;19319965;9482789 10202149;10358086;10390370;10862698;10945988;11076968;11799244;12015314;12036294;12163479;12221128;12270714;12477932;12672969;12690205;12852856;12853948;14702039;14982933;15047863;15630448;15670215;16198290;16339516;16356588;16462731;16741161;16760425;16980960;17043677;17148452;17352745;18029348;18093912;18239623;18334708;18643869;19073175;19086053;19242490;20106900;20231423;20301308;20379614;20453000;20466722;20952690;21139048;21374596;21606206;21890473;21931171;21988832;22190034;22778270;22908311;23455922;23455924;23602568;24236485;24255178;24452374;24457600;24475373;24816145;7790358;9872452;9915845 10142 H0Y6Q0;H7BYL6;H7BZV6;Q5GIA7;Q6PJH3;Q99996 AB018346;AB019691;ABBA01045811;ABBA01045812;ABBA01045813;ABBA01045814;ABBA01045815;ABBA01045816;ABBA01045817;AC000066;AC000120;AC003086;AC004013;AF026245;AF083037;AF091711;AF247727;AJ010770;AJ131693;AK000270;AK025160;AK026444;AK057546;AK074869;AL117418;AMYH02016257;AMYH02016258;AMYH02016259;AY528715;BC015533;BC027455;BC040932;BC062448;CH236949;CH471091;CR997756;KF458509;NG_011623;NM_005751;NM_147185;XM_005250102;XM_005250103;XM_006715827 AAB86384;AAB96867;AAC60380;AAD22767;AAD39719;AAH15533;AAH40932;AAK51115;AAS07419;AAT44400;BAA34523;BAA78718;BAG52021;CAA09361;CAB40713;CAB55912;EAL24155;EAL24156;EAL24157;EAL24158;EAW76860;EAW76861;EAW76862;EAW76863;EAW76864;EAW76865;EAW76866;EAW76867;EAW76868;NP_005742;NP_671714;Q99996;XP_005250159;XP_005250160;XP_006715890 Hs.651221 1339654;1646788;1655710;1667910;1691312;1691444;1691446;1691448;1691450;1691452;1691454;1695046;1772034;1786194;2133617;2139016;2155593;2166065;5109667;5118444;5491577 D11S3316;D7S1789;D7S2153E;D7S2313;D7S2653;D7S2654;G31811;G31814;G42119;G42120;G42121;G42122;G42123;G42124;G44753;MARC_21662-21663:1033410511:1;RH68133;RH80300;SHGC-105142;SHGC-31096;SHGC-36444 AKAP-9;AKAP350;AKAP450;CG-NAP;KIAA0803;LQT11;MU-RMS-40.16A;PPP1R45;PRKA9 A kinase (PRKA) anchor protein (yotiao) 9;A-kinase anchor protein 350 kDa;A-kinase anchor protein 450 kDa;A-kinase anchor protein 9;AKAP 120-like protein;AKAP9-BRAF fusion protein;HYPERION;OTTHUMP00000161771;YOTIAO;centrosome- and Golgi-localized PKN-associated protein;centrosome- and golgi-localized protein kinase N-associated protein;kinase N-associated protein;protein kinase A anchoring protein 9;protein phosphatase 1, regulatory subunit 45 APPROVED protein-coding ENSG00000127914 HGNC:379 04921 604001;611820 REVIEWED 8662510 AKIRIN1P1 akirin 1 pseudogene 1 12 12 12 80621004 80621535 - 80954792 80955323 - 80561013 80561544 - 100418731 ABBA01053493;AC074031;AMYH02026827;NG_024033;NG_034052 pseudo HGNC:50794 INFERRED 1606232 AKIRIN1 akirin 1 FOUND IN nuclear membrane; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 1 1 1 p34.3 37736663 37751818 + 39456916 39471737 + 38991244 39006065 + 6480464 12477932;14702039;15489334;16710414;18029348;18066067;19200367;19322201;24816145;8125298 79647 B4DQP0;H0YEQ5;Q9H9L7 ABBA01023227;ABBA01023228;AK022728;AK092624;AK124799;AK126262;AK223276;AK298890;AK303098;AL606465;AMYH02000823;AY326465;BC001498;BC119745;BC119746;CH471059;DB727813;NM_001136275;NM_024595 AAI19746;AAI19747;AAR99515;BAB14208;BAD96996;BAG61002;BAG64208;EAX07283;EAX07284;EAX07285;NP_001129747;NP_078871;Q9H9L7 Hs.293563 1655576;1689440;1691034;1693210;1788762;1849222 A004A36;AL033558;RH130590;RH64534;RH64664;RH80001 C1orf108;FLJ12666;RP11-781D11.2;STRF2 OTTHUMP00000008669;OTTHUMP00000232306;OTTHUMP00000232307;OTTHUMP00000232308;akirin-1 protein-coding ENSG00000174574 HGNC:25744 07787 615164 VALIDATED 1317188 AKIRIN2 akirin 2 ENCODES a protein that exhibits enzyme binding; INVOLVED IN innate immune response (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); positive regulation of cell proliferation (inferred); ASSOCIATED WITH Neoplasm Metastasis (ortholog); FOUND IN nucleus; transcriptional repressor complex (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-fluoro-2,4-dinitrobenzene; 17beta-estradiol 6 6 6 q15 88802600 88830001 - 88384578 88411985 - 87674860 87702267 - 2306009;6480464 18460465 12477932;14574404;14702039;15489334;16189514;17081983;18066067;19322201;21139048;23382074;24250222;24816145;8125298 55122 Q53H80;Q9NW35 ABBA01040504;AK001204;AK222701;AL133211;AMYH02014055;AMYH02014056;BC000764;BC003042;BC005051;BM996262;CH471051;CQ859732;NM_018064 AAH00764;AAH03042;AAH05051;BAA91551;BAD96421;CAH25916;EAW48578;NP_060534;Q53H80 Hs.485915 C6orf166;FBI1;FLJ10342;dJ486L4.2 OTTHUMP00000016836;akirin-2;fourteen-three-three beta interactant 1 protein-coding ENSG00000135334 HGNC:21407 12864 615165 VALIDATED 8662511 AKIRIN2P1 akirin 2 pseudogene 1 4 4 4 q31.23 148029452 148030460 + 150711110 150712118 + 149789958 149790966 + 9847074 100216487 ABBA01070080;AC093893;AMYH02010289;NG_009119 pseudo HGNC:50796 INFERRED 2300995 AKIRIN2-AS1 AKIRIN2 antisense RNA 1 6 6 q15 88828036 88828949 - 88410020 88410933 - 6480464 55389 AL133211;AL525197;BX101313;CH471051;NR_002767 EAW48579 Hs.485915 NCRNA00120;PRO2266 APPROVED miscrna HGNC:28822 1317844 AKNA AT-hook transcription factor ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; INTERACTS WITH benzene; cyclosporin A; thapsigargin 9 9 9 q32 87744104 87804342 - 117096429 117160783 - 114334149 114398503 - 6480464;8554872 11268217;11853319;12477932;14702039;15869410;16000308;19913121;19946888;20507260;20628086;21139048;21297967;21890473 80709 Q64FY1;Q7Z591 AB075848;ABBA01042667;ABBA01042668;ABBA01042669;AF286341;AK024431;AK055563;AK074040;AK090503;AK098036;AK126136;AK131082;AK160382;AL138895;AL356796;AL713755;AL833220;AMYH02021517;AMYH02021518;AY703039;AY703040;AY703041;AY703042;AY703043;AY703044;AY703045;AY703046;BC042202;BC055285;CH471090;HG502361;NM_030767;XM_005252243;XM_005252244;XM_005252245;XM_005252246;XM_005252247;XM_005252248;XM_006717294;XM_006717295 AAH42202;AAH55285;AAK83024;AAU34186;AAU34187;AAU34188;AAU34189;AAU34190;AAU34191;AAU34192;AAU34193;BAB15721;BAB84866;BAB85554;BAC85132;BAD18725;EAW87418;EAW87419;NP_110394;Q7Z591;XP_005252300;XP_005252301;XP_005252302;XP_005252303;XP_005252304;XP_005252305;XP_006717357;XP_006717358 Hs.494895 1656047;1661142;1677150;1849057;2122571;5020740;5020948;5022578;5024413;5024516;5037740 D13S1568;D1S1423;D1S3691;G17343;G30174;G35510;L17809;L17877;RH65860;RH98264;STS-X05784 FLJ31001;FLJ33184;KIAA1968;RP11-82I1.4;RP11-9M16.2 AKNA transcript F2;AT-hook transcription factor AKNA;AT-hook-containing transcription factor;OTTHUMP00000021973;OTTHUMP00000021974;OTTHUMP00000123514 protein-coding ENSG00000106948 HGNC:24108 16148 605729 VALIDATED 1604964 AKNAD1 AKNA domain containing 1 This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 1 1 1 p13.3 107628098 107669293 - 109358520 109400864 - 108815898 108858242 - 6480464 12477932;14702039;16344560;18029348;20379614;21832049;21897333;23648065 254268 B4DET8;F2Z2Q7;Q5T1N1;Q5T1N2 ABBA01068354;ABBA01068355;AK095517;AK313772;AL449266;AL832216;AMYH02001700;BC030647;BC150642;CH471122;DB054557;NG_032762;NM_152763;NR_049760 AAH30647;AAI50643;ABM82553;ABM85744;BAC04565;BAG36510;EAW56333;EAW56334;EAW56335;EAW56336;EAW56337;EAW56338;NP_689976;Q5T1N1 Hs.729441;Hs.744647 C1orf62;MGC26989;RP11-475E11.3 OTTHUMP00000012936;OTTHUMP00000012937;OTTHUMP00000013003;OTTHUMP00000013004 APPROVED protein-coding ENSG00000162641 HGNC:28398 11325 REVIEWED 68486 AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011] 1 1 1 p33-p32 44300464 44319706 + 46016455 46035723 + 45550783 45570051 + 1300048;6480464;6907045;8552778 23747692 10393438;10486210;10510318;11444797;11716357;12477932;15231747;15299353;15489334;15769597;1602151;16344560;16543247;17149600;18495158;18676680;1901806;19056867;19170196;19423521;19625176;19692168;20453000;21044950;2113526;21139048;21276435;21906983;23643085;24816145;2498333;3615425;7669785;7827091;8268209;8405190;9693960 10327 P14550;Q5T621;V9GYG2;V9GYP9;V9HWI0 ABBA01050863;ABBA01050864;AF036683;AF112482;AF112485;AK293083;AK307068;AK307237;AK307288;AL355480;AMYH02000934;AMYH02000935;AU142853;BC000670;BC005394;BC033287;BI549149;BT007003;BU631634;CH471059;CR457010;CX788871;DA550374;DA871469;EU668319;EU794588;J04794;NM_001202413;NM_001202414;NM_006066;NM_153326 AAA51711;AAB92369;AAF01260;AAH00670;AAH05394;AAP35649;ABM81608;ABM84696;ABM84791;ACF94472;ACJ13642;BAF85772;CAG33291;EAX06970;EAX06971;EAX06972;EAX06973;EAX06974;NP_001189342;NP_001189343;NP_006057;NP_697021;P14550 Hs.474584;Hs.721160 1660695;1742059;1754485;2132167;5014051;5015619;5021872;5023391;5037552 D11S3114;D1S3175;D8S2278;D8S2279;GDB:190072;RH71342;SHGC-132757;SHGC-74752;sY3084 ALDR1;ALR;ARM;DD3;HEL-S-6;MGC12529;MGC1380 HEL-S-165mP;OTTHUMP00000009240;OTTHUMP00000009241;alcohol dehydrogenase;alcohol dehydrogenase [NADP(+)];alcohol dehydrogenase [NADP+];aldehyde reductase;aldo-keto reductase family 1 member A1;dihydrodiol dehydrogenase 3;epididymis secretory protein Li 6;epididymis secretory sperm binding protein Li 165mP APPROVED protein-coding ENSG00000117448 HGNC:380 00069 103830 REVIEWED 732178 AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009] 7 7 7 q35 128864507 128881287 - 134127107 134143888 - 134442355 134459136 - 1626081;1626080;1626089;1626092;734542;1599728;1626082;1626083;1626084;1626087;1626088;1626079;1300048;1580863;6480464;6907045;8548683;8548684;8552778;5509919;8548813;8548671;8549559;8548642;8548641;8548668;8548674;8548675;8548781;8548638;8548676;8548685;8548672;8548678;8548640;8554872 10913167;11370705;12166624;12505670;15569136;16127462;16567803;16701918;16900242;16936110;16979157;17003340;17030682;17211565;17409277;17444799;17898287;18452283;19422879;19587357;21067572;21329682;21683810;23747692;23808167;24360973;8150024;8204669;9000706;9215310;9489533 10075698;10510318;11095596;11182213;11306081;11444797;11449315;11499839;11796181;11842041;11874426;11958479;12446366;12477932;12486717;12604221;12660865;12690205;1447221;14582038;14662023;14694017;14694018;14996095;15162486;15181092;15231748;15251463;15270790;15277434;15284219;15284221;15489334;15504980;15583024;15637423;15745835;15862967;15973199;16021519;16174723;16176189;1621098;16545977;16620264;16911628;16928730;16936152;17018629;17139089;17270157;17353931;17418233;17563730;17851230;17968325;18029348;18385795;18434430;18451330;18495158;18716049;1901827;1901857;19056867;19273550;19420105;19760097;19821053;19847669;19850041;19913121;20093363;20150532;20353610;20354121;20424224;20628086;20639865;20943776;21067489;21084309;2111143;2112546;21139048;21182935;21294693;21306562;21329684;21409599;21420193;21637955;21853274;21890473;21906983;21963094;21987572;22360420;22505724;22561432;22649481;22658411;22844269;22939629;22978663;23000965;23029549;23146748;23517423;23732517;24100137;24186862;24337577;24474649;24698671;24816145;2492527;2498333;2504709;2510130;6417042;7789640;8234324;8245005;8268209;8281941;8343525;8347133;8405190;8435445;8615700;8645003;8877273;9195951;9405046;9565553 231 E9PCX2;E9PEF9;P15121 AB209796;ABBA01001109;AC078847;AF032455;AF328729;AK311339;AK313439;AL833410;AMYH02016808;BC000260;BC005387;BC010391;BT019859;CH236950;CH471070;CR450351;CR542203;HH961838;J04795;J05017;J05474;M34720;M34721;M59783;NM_001628;U72619;X15414;XM_005250234 AAA35560;AAA35561;AAA51712;AAA51713;AAA51714;AAA51715;AAB61992;AAB88851;AAH00260;AAH05387;AAH10391;AAN09721;AAV38662;ABM81684;ABM83472;ABM84847;ABM86683;BAD93033;BAG36230;CAA33460;CAG29347;CAG47000;CBX51392;EAL24070;EAW83814;EAW83815;NP_001619;P15121;XP_005250291 Hs.521212 2107823;2155654;2166727;5014051;5015619;5022651;5024092;5037552;5109281;5115477 AKR1B1_8199;ALDR1;D11S2921;D11S3114;D1S1425;D8S2278;D8S2279;GDB:4585363;J05017;WI-18828 ADR;ALDR1;ALR2;AR;MGC1804 Lii5-2 CTCL tumor antigen;OTTHUMP00000207727;OTTHUMP00000207728;aldehyde reductase 1;aldehyde reductase 1 (low km aldose reductase) (5.8 kb psti fragment, probably the functional gene);aldo-keto reductase family 1 member B1;aldose reductase;low Km aldose reductase APPROVED protein-coding ENSG00000085662 HGNC:381 00071 103880 REVIEWED 1317959 AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008] 7 7 7 q33 128949765 128963585 + 134212344 134226166 + 134527592 134541414 + 1580863;2311149;2311151;2311150;6480464;6903952;6903957;6907045;8554872 12706323;15318096;15563966;16970545;20709016 11703436;12365083;12477932;12732097;12882871;15489334;15745835;15928807;15936242;16127462;16204895;17209433;17300864;17425679;17597105;17905306;18056116;18087047;18325492;18358633;18396902;18788756;19028477;19236911;19464995;19563777;19643728;19913121;20007578;20036025;20586184;20628086;20705797;20943077;21044950;21277289;21317765;21329684;21585341;21645211;21672310;22014576;22198799;22222635;22329800;22498646;22681639;23146748;23438482;23912490;24100137;24140838;24217247;24391771;24406159;24656094;8889548;9537432;9565553;9765596 57016 O60218 ABBA01001110;AC078847;AF044961;AF052577;AF524864;AMYH02016808;BC008837;BM975664;BT006794;CH236950;CH471070;CR541801;NM_020299;U37100;XM_005250506;XM_006716060 AAC15671;AAC17469;AAC36465;AAH08837;AAO13380;AAP35440;ABM81604;ABW03272;CAG46600;EAL24069;EAW83816;NP_064695;O60218;XP_005250563;XP_006716123 Hs.116724 5014023 D13S1553 AKR1B11;AKR1B12;ALDRLn;ARL-1;ARL1;ARP;HIS;HSI;MGC14103;hARP OTTHUMP00000207788;SI reductase;aldo-keto reductase family 1 member B10;aldo-keto reductase family 1, member B11 (aldose reductase-like);aldose reductase-like 1;aldose reductase-like peptide;aldose reductase-related protein;small intestine reductase APPROVED protein-coding ENSG00000198074 HGNC:382 05271 604707 REVIEWED 7240879 AKR1B10P1 aldo-keto reductase family 1, member B10 pseudogene 1 10 10 10 q21.3 62784921 62785866 + 69510042 69510987 + 67750284 67751229 + 340888 ABBA01019548;AL607022;AMYH02023242;NG_022180 pseudo HGNC:45062 INFERRED 7240883 AKR1B10P2 aldo-keto reductase family 1, member B10 pseudogene 2 18 18 18 q22.1 62972479 62973391 + 66123187 66124107 + 68455950 68456870 + 643582 ABBA01056269;AC005909;AMYH02034918;NG_022495 1783754 SHGC-172083 pseudo HGNC:45063 INFERRED 3516654 AKR1B15 aldo-keto reductase family 1, member B15 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 4-nitrobenzaldehyde; benzo[a]pyrene; copper(2+) sulfate 7 7 7 q33 128971267 129002011 + 134233849 134264615 + 134549097 134579863 + 6480464;8554872 12477932;12690205;20834067;20877624;21276782;22277967;22970857 441282 C9JRZ8 ABBA01001110;AC078847;AMYH02016808;BC072676;BX335355;CH236950;CH471070;NM_001080538;XM_005250364;XM_005250365 C9JRZ8;EAL24068;EAW83819;NP_001074007;XP_005250421;XP_005250422 Hs.729418 AKR1B10L;AKR1B10L, AK1R1B7 OTTHUMP00000207847;aldo-keto reductase family 1 member B15;aldo-keto reductase family 1, member B10-like;putative aldo-keto reductase family 1 member B15 protein-coding ENSG00000227471 HGNC:37281 VALIDATED 1345706 AKR1B1P1 aldehyde reductase family 1, member B1 pseudogene 1 1 1 1 q42.12 197952705 197953892 + 224762103 224763290 + 224574401 224575588 + 8244370 401982 ABBA01009684;AC096537;AMYH02002778;NG_006432 ALDRL1 pseudo HGNC:420 INFERRED 1351686 AKR1B1P3 aldo-keto reductase family 1, member B1 pseudogene 3 11 11 11 p15.1 16632370 16633567 - 16504909 16506256 - 16483362 16484709 - 8244370 729347 ABBA01061086;AC100865;AMYH02024369;NG_007132 ALDRL3 pseudo HGNC:422 INFERRED 1343467 AKR1B1P2 aldo-keto reductase family 1, member B1 pseudogene 2 3 3 3 p12 74120460 74122119 + 74185078 74186739 + 74135927 74137588 + 1612607;8244370 236 ABBA01030975;AC117458;AMYH02007074;M84454;NG_001071 1743081 GDB:251788 ALDRP pseudo HGNC:425 INFERRED 1349917 AKR1B1P4 aldo-keto reductase family 1, member B1 pseudogene 4 13 13 13 q14.13 27316188 27317297 - 46261327 46262645 - 45687192 45688510 - 8244370 390402 ABBA01050980;AL139320;AMYH02027978;NG_006989 ALDRL4 pseudo HGNC:423 INFERRED 1345288 AKR1B1P5 aldo-keto reductase family 1, member B1 pseudogene 5 14 14 14 q23.1 39651600 39652860 - 59601840 59603169 - 59135122 59136451 - 390482 ABBA01018269;AL359219;AMYH02029287;NG_007013 AKR1B1P pseudo HGNC:20002 INFERRED 3207496 AKR1B1P6 aldo-keto reductase family 1, member B1 pseudogene 6 18 18 18 p11.22 8429987 8431097 + 8545647 8546757 + 8545649 8546759 + 100129769 ABBA01049934;AMYH02034279;AP001793;NG_017129 pseudo HGNC:33498 INFERRED 1626553 AKR1B1P8 aldo-keto reductase family 1, member B1 pseudogene 8 X X X q23 115962985 115963926 - 115174736 115175677 + 116043483 116044424 + 392525 ABBA01049289;AL772226;AMYH02040296;BX546470;NG_009682 pseudo HGNC:33496 INFERRED 1626550 AKR1B1P7 aldo-keto reductase family 1, member B1 pseudogene 7 19 19 19 q13.11 30544773 30545941 - 33851032 33852371 - 33360126 33361465 - 126242 ABBA01012594;AC008744;AMYH02035938;NG_009664 2155654 GDB:4585363 pseudo HGNC:33497 INFERRED 1353901 AKR1C2 aldo-keto reductase family 1, member C2 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p15-p14 4972245 5000184 - 5029967 5060225 - 4987775 5018033 - 1580863;1626148;6480464;6907045;8699517;8554872;7240710 15494612 10672042;11513593;11514561;11854486;12416991;12477932;12810547;13678667;14671194;14702039;15188492;15212687;15383625;15489334;15492289;16216911;16344560;16411748;16478829;17203165;17432832;18251165;18396902;18508192;18654764;18984855;19258517;19320734;19487289;19754879;19846565;20056642;20689807;20734064;20840669;21217827;21232532;21280124;21521174;21802064;2187532;22064385;22275760;22534668;24244276;24434280;24816145;7789999;7959017;8011662;8274401;8486699;8573067;8889548;8920937;9716498 1646 B4DK69;P52895;S4R3P0 AB021654;AB031084;AB032153;AB209017;ABBA01035203;AK091194;AK290304;AK296419;AK296686;AK308385;AL391427;AL713867;AMYH02022028;AX710070;BC007024;BC063574;BT006653;CA450425;DA451165;DA458030;L32592;M33376;NG_031852;NM_001135241;NM_001354;NM_205845;S68330;U05598 AAA20937;AAB38486;AAD14013;AAH07024;AAH63574;AAP35299;ABM81606;ABM84788;BAA36169;BAA92884;BAA92891;BAD92254;BAF82993;BAG59081;BAG59281;CAD88527;NP_001128713;NP_001345;NP_995317;P52895 Hs.460260;Hs.567256;Hs.734597 1683649;1684538;1714855;1781868;2157929;5125451 RH11162;RH120422;RH92273;SHGC-100143;SHGC-12403;STS-U05861 3-alpha-HSD3;AKR1C-pseudo;BABP;DD;DD-2;DD/BABP;DD2;DDH2;FLJ53800;HAKRD;HBAB;MCDR2;SRXY8;TDD 3-alpha hydroxysteroid dehydrogenase, type III;OTTHUMP00000018995;aldo-keto reductase family 1 member C2;bile acid binding protein;chlordecone reductase homolog HAKRD;dihydrodiol dehydrogenase 2;dihydrodiol dehydrogenase/bile acid-binding protein;pseudo-chlordecone reductase;testicular 17,20-desmolase deficiency;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type II dihydrodiol dehydrogenase;type III 3-alpha-hydroxysteroid dehydrogenase 2315438 INSUL41_H APPROVED protein-coding ENSG00000151632 HGNC:385 11857 600450;614279 REVIEWED 1315695 AKR1C1 aldo-keto reductase family 1, member C1 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] 10 10 10 p15-p14 2385 9221 + 5005454 5020158 + 4963262 4977966 + 1580863;1626148;6480464;6907045 15494612 10510318;10672042;11013348;11514561;11956619;12477932;12579257;12733716;12899831;13678667;15164054;15212687;15489334;15492289;16079077;16338060;16361083;16385451;16543247;16712791;17149600;17618725;17697149;17945194;18624398;18654764;18984031;19218247;19320734;19423521;19442656;19487289;19696165;19738201;19846565;20201926;20673851;20689807;20727920;21217827;21232532;21521174;21900206;22064385;22278827;22566634;23165153;23183084;23933386;24189185;24816145;7515059;7626489;7789999;8011662;8132567;8172617;8274401;8486699;8573067 1645 A6NHU4;H0Y804;Q04828 AB031083;AB032150;ABBA01035203;AC091817;AK310658;AL713867;AMYH02022028;BC015490;BC020216;BC040210;BM923712;BT007197;CB119749;D26124;M86609;NM_001353;S68290;U05684;U05861 AAA16227;AAA18115;AAB02880;AAD14012;AAH15490;AAH20216;AAH40210;AAP35861;ABM82410;ABM84849;BAA05121;BAA92883;BAA92886;NP_001344;Q04828 Hs.460260 1646803;1683649;1684538;1781868;2157929;5125451 RH11162;RH92273;SHGC-100143;SHGC-12403;STS-R98791;STS-U05861 2-ALPHA-HSD;20-ALPHA-HSD;C9;DD1;DD1/DD2;DDH;DDH1;H-37;HAKRC;HBAB;MBAB;MGC8954 20 alpha-hydroxysteroid dehydrogenase;20-alpha (3-alpha)-hydroxysteroid dehydrogenase;20-alpha-hydroxysteroid dehydrogenase;OTTHUMP00000018992;OTTHUMP00000018993;aldo-keto reductase C;aldo-keto reductase family 1 member C1;chlordecone reductase homolog HAKRC;dihydrodiol dehydrogenase 1;dihydrodiol dehydrogenase 1/2;dihydrodiol dehydrogenase isoform DD1;hepatic dihydrodiol dehydrogenase;high-affinity hepatic bile acid-binding protein;indanol dehydrogenase;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type II 3-alpha-hydroxysteroid dehydrogenase APPROVED protein-coding HGNC:384 07194 600449 REVIEWED 1352888 AKR1C3 aldo-keto reductase family 1, member C3 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p15-p14 5076549 5089836 + 5090958 5149878 + 5048766 5107686 + 1580863;6480464;6907045;8552774;8554872 12432932 10393440;10557352;10622721;10672042;10998348;11076863;11165022;11256614;12477932;13678667;14671194;14979715;14996743;14997212;15087468;15164054;15212687;15284179;15489334;15489336;15582534;15781210;15814298;16157291;16169070;16189514;16263811;16302261;16337083;16338060;16381901;16475787;16480815;16601286;16983398;17071532;17149600;17166832;17220347;17507624;17583494;17697149;17940109;18306354;18339682;18508192;18552976;18574251;18632753;18641923;18676680;18692800;18984855;18996480;19007764;19162045;19170196;19273550;19320734;19336370;19336506;19423521;19442656;19460435;19487289;19574343;19625176;19692168;19846565;19942269;20036328;20086173;20126582;20145130;20201926;20379614;20453000;20634197;20661409;20689807;20734064;21039282;21151387;21232532;21323680;21365123;21444150;21521174;21851338;21886157;21963094;22170488;22505408;22670171;23024260;23116553;23165153;23183084;23196782;23519145;23748150;24012099;24228104;24244276;24316309;24571686;24816145;24832494;7626489;7650035;7788527;7789999;8274401;8718859;8889549;9415401;9792917;9862446;9927279 8644 B4DKT3;P42330;S4R3D5;S4R3Z2 AB018580;AB028065;AB032157;ABBA01035203;AF149416;AK290365;AK296701;AK296829;AK310940;AK315411;AL391427;AMYH02022028;AV761799;BC001479;BC019230;BG547635;BT007286;CH471072;D17793;DQ269985;H79159;KF455197;L43839;NM_001253908;NM_001253909;NM_003739;S68288 AAB41916;AAD14011;AAF07272;AAH01479;AAH19230;AAP35950;ABB76132;ABM81605;ABM84786;ACT64584;ACT64585;BAA04619;BAA88488;BAA88489;BAA92892;BAF83054;BAG59295;BAG59399;CAL37801;EAW86452;EAW86453;EAW86454;NP_001240837;NP_001240838;NP_003730;P42330 Hs.78183 1678215;2154796;2157562;2183315;5097053 D10S1443;G62081;RH1568;RH25343;SHGC-31479 DD3;DDX;HA1753;HAKRB;HSD17B5;KIAA0119;PGFS;hluPGFS 3-alpha hydroxysteroid dehydrogenase, type II;3-alpha-HSD type II, brain;HAKRe;OTTHUMP00000018996;aldo-keto reductase family 1 member C3;aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II);chlordecone reductase homolog HAKRb;dihydrodiol dehydrogenase 3;dihydrodiol dehydrogenase X;indanol dehydrogenase;prostaglandin F synthase;testosterone 17-beta-dehydrogenase 5;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type IIb 3-alpha hydroxysteroid dehydrogenase APPROVED protein-coding ENSG00000196139 HGNC:386 04911 603966 REVIEWED 7175943 AKR1C5P aldo-keto reductase family 1, member C5, pseudogene 10 5164273 5177418 - 100996684 ABBA01035202;ABBA01035203;AL391427;AMYH02022028 pseudo HGNC:44679 MODEL 7176848 AKR1C6P aldo-keto reductase family 1, member C6, pseudogene INTERACTS WITH aflatoxin B1; cyclosporin A; phenobarbital 10 10 10 p15.1 4856785 4901391 - 4913859 4958465 - 4871667 4916273 - 6480464 10672042;16344560;16712791 389932 AB037902;AB037903;AB037905;ABBA01035203;AC091817;AMYH02022027;CB111913;CS300815;DA643129;NR_026743 BAA92887;BAA92888;BAA92889;BAA92890;CAK32479 Hs.631812 1753721 SHGC-107770 TAKR pseudo HGNC:44680 VALIDATED 1347108 AKR1C4 aldo-keto reductase family 1, member C4 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] 10 10 10 p15.1 5179002 5201106 + 5238798 5260910 + 5196835 5218947 + 1580863;6480464;6907045;8554872;7240710 10634139;10672042;11158055;11284743;12220531;12477932;12544512;15164054;1530633;15489334;15987428;16344854;16385451;17207797;18676680;19013211;19170196;19487289;19625176;19692168;20201926;20214802;21521174;21570127;2187532;22356824;23824909;24097068;24189185;24816145;7626489;7650035;7789999;8172617;8274401 1109 AAB47003;P17516 AB031085;AB032163;AB045829;ABBA01035201;AK314988;AL355303;AMYH02022029;BC020744;CH471072;D26125;D89962;HH961842;M33375;NG_031872;NM_001818;S68287 AAA35658;AAB47003;AAD14010;AAH20744;ABM82350;ABM85524;BAA05122;BAA92885;BAA92893;BAA99542;BAB43901;CBX51394;EAW86450;NP_001809;P17516 Hs.567245 1775274;2154306;5097053;5113286 G62081;RH44128;STS-S68287;STS-T62885 3-alpha-HSD;3-alpha-HSD1;C11;CDR;CHDR;DD-4;DD4;MGC22581 3 alpha-hydroxysteroid dehydrogenase/dihydrodiol dehydrogenase 4;3-alpha hydroxysteroid dehydrogenase, type I;3-alpha-hydroxysteroid dehydrogenase type I;HAKRA;OTTHUMP00000018997;aldo-keto reductase family 1 member C4;chlordecone reductase;dihydrodiol dehydrogenase 4;dihydrodiol dehydrogenase isozyme DD4;type I 3-alpha-hydroxysteroid dehydrogenase APPROVED protein-coding ENSG00000198610 HGNC:387 07040 600451;614279 REVIEWED 7176336 AKR1C7P aldo-keto reductase family 1, member C7, pseudogene 10 10 10 p15.1 5229492 5244507 - 5317169 5327888 - 5275206 5285925 - 648947 ABBA01035199;AL355303;AMYH02022039;NG_023403 1335493;1648129 D10S1713;D22S667 pseudo HGNC:44681 INFERRED 1316753 AKR1C8P aldo-keto reductase family 1, member C8, pseudogene ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 10 10 10 p15.1 5136630 5167354 - 5196655 5227150 - 5154460 5185187 - 6480464 12477932;15164054 340811 Q5T2L2 ABBA01035201;ABBA01035202;AK131335;AL355303;AMYH02022028;AMYH02022029;BC101204;BC101205;CH471072;NR_027916 AAI01205;AAI01206;BAD18494;EAW86451;Q5T2L2 Hs.282513 1752695 SHGC-106506 FLJ16347 APPROVED pseudo ENSG00000264006 HGNC:23469 16480 VALIDATED 736637 AKR1D1 aldo-keto reductase family 1, member D1 The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010] 7 7 7 q32-q33 132499985 132541839 + 137761178 137803050 + 138076432 138118304 + 1580863;6480464;6907045;7240710;8554872;8699517 10343119;11329013;11342103;12477932;12690205;16123077;16712791;18407998;18848863;19013211;19075558;19175828;19212619;20379614;20522910;20800085;21185810;21255593;22437839;23092984;23679950;23704699;24189185;24894951;7508385;9024384 6718 C9J3U1;P51857 ABBA01001154;ABBA01001155;AC024082;AC083867;AF283651;AF283652;AF283653;AF283654;AF283655;AF283656;AF283657;AF283658;AF283659;AK058142;AK289425;AK298421;AK298428;AMYH02016854;AMYH02016855;BC130625;BC130627;BG210362;CB111926;CH236950;CH471070;FM160741;FM160742;FM160743;NG_023342;NM_001190906;NM_001190907;NM_005989;Z28339 AAG39381;AAI30626;AAI30628;ADR83138;BAB71682;BAF82114;BAG60645;BAG60650;CAA82193;CAQ55951;CAQ55952;CAQ55953;EAL24049;EAW83881;EAW83882;NP_001177835;NP_001177836;NP_005980;P51857 Hs.201667;Hs.740214 2141696;5037552 D8S2279;SHGC-35425 3o5bred;CBAS2;SRD5B1 3-oxo-5-beta-steroid 4-dehydrogenase;OTTHUMP00000208643;OTTHUMP00000208644;OTTHUMP00000208645;aldo-keto reductase family 1 member D1;delta 4-3-ketosteroid-5-beta-reductase;delta(4)-3-ketosteroid 5-beta-reductase;delta(4)-3-oxosteroid 5-beta-reductase;steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1) APPROVED protein-coding ENSG00000122787 HGNC:388 07263 235555;604741 REVIEWED 1345885 AKR1D1P1 aldo-keto reductase family 1, member D1 pseudogene 1 1 1 1 q24 140598070 140614609 + 167488787 167505324 + 167519550 167536087 + 10343119;11342103 80701 ABBA01047243;AF283650;AL031733;AMYH02002091;AMYH02002092;KF455053;NG_002683 2120828 WI-15523 AKR1D1P;SRD5BP1 steroid-5-beta-reductase, beta polypeptide pseudogene 1 APPROVED pseudo HGNC:11288 INFERRED 1320023 AKR1E2 aldo-keto reductase family 1, member E2 The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 10 10 10 p15.1 4811323 4833177 + 4868369 4890254 + 4824673 4854130 + 1580863;6480464 12477932;12604216;15118078;16344560;16385451;17207965;19706366;20662065;8889548 83592 E9PK93;G3V1C1;H0YCI2;H0YDE8;Q96JD6 AB040820;AB040821;AB040822;AB055603;ABBA01035203;AC091817;AF263242;AK074211;AK302155;AMYH02022027;BC002862;BC023972;BI756016;BM724648;BU741321;CH471072;DA006578;NM_001040177;NM_001271021;NM_001271025;NR_073125;NR_073126;NR_073127;XM_006717511;XM_006717512;XM_006717513;XM_006717514;XM_006717515 AAH02862;AAK58523;ADQ32301;BAC54565;BAC54566;BAC54567;BAC54568;BAH13638;EAW86461;EAW86462;EAW86463;EAW86464;EAW86465;EAW86466;NP_001035267;NP_001257950;NP_001257954;Q96JD6;XP_006717574;XP_006717575;XP_006717576;XP_006717577;XP_006717578 Hs.657944 2107825 AKR1CL2_8107 AKR1CL2;AKRDC1;MGC10612;hTSP;htAKR 1,5-anhydro-D-fructose reductase;AF reductase;LoopADR;OTTHUMP00000018989;OTTHUMP00000018990;OTTHUMP00000018991;OTTHUMP00000229818;OTTHUMP00000229819;OTTHUMP00000237878;aldo-keto reductase family 1 member C-like protein 2;aldo-keto reductase family 1, member C-like 2;aldo-keto reductase loopADR;aldo-keto reductase related protein;testis-specific protein APPROVED protein-coding ENSG00000165568 HGNC:23437 07472 REVIEWED 732683 AKR7A2 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. [provided by RefSeq, Oct 2011] 1 1 1 p36.13 17957442 17965624 - 19629202 19638640 - 19302708 19312146 - 1580863;6480464 12071861;12477932;12879023;15489334;15967462;16189514;16429158;16710414;17591773;18752886;19056867;19077459;19738201;20877624;21044367;21139048;21890473;21906983;22623428;24250222;24816145;8125298;8889549;9576847;9823300 8574 H3BLU7;H7C4Q7;H7C5H7;O43488;V9HWA2 AA037839;ABBA01059756;AF026947;AK225267;AK303131;AK310609;AL035413;AMYH02000421;BC004111;BC007352;BC010852;BC011586;BC012171;BC013996;BG385885;BK000395;BM551906;BT007347;BU944847;CH471134;EU794591;NM_003689;Y16675 AAC52104;AAH04111;AAH07352;AAH10852;AAH11586;AAH12171;AAH13996;AAP36011;ABM81929;ABM85108;ACJ13645;BAG64236;CAA76347;DAA00088;EAW94881;NP_003680;O43488 Hs.571886 1660091;1739385;2118775;2185425 D1S2409;D1S316E;SHGC-74333;STS-AA037839 AFAR;AFAR1;AFB1-AR1;AKR7 AFB1 aldehyde reductase 1;AFB1-AR 1;HEL-S-166mP;OTTHUMP00000002622;OTTHUMP00000215517;OTTHUMP00000215519;SSA reductase;aflatoxin B1 aldehyde reductase member 2;aflatoxin beta1 aldehyde reductase;aldoketoreductase 7;epididymis secretory sperm binding protein Li 166mP;succinic semialdehyde reductase APPROVED protein-coding HGNC:389 04567 603418 REVIEWED 4144516 AKR7A2P1 aldo-keto reductase family 7, member A2 pseudogene 1 1 1 1 p12 111694814 111696137 + 113465972 113467295 + 112923350 112924673 + 6480464 12879023;19706366;20467438 246182 Q8NHP2 ABBA01068436;AJ277796;AL158844;AMYH02001753;NG_015880;NR_002796 CAC81911 Hs.647691 AFARP1 pseudo HGNC:24062 VALIDATED 1605840 AKR7L aldo-keto reductase family 7-like This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] 1 1 1 p36.13 17919460 17927552 - 19592476 19600568 - 19265982 19274074 - 6480464;8554872 12477932;12604248;12879023;15146197;16710414;20171287;21906983;24816145 246181 Q8NHP1 ABBA01059756;AJ278012;AL035413;AMYH02000420;AMYH02000421;BC035351;BX281656;CH471134;CN359627;NR_040288;NR_040289 AAH35351;CAC79668;EAW94876;EAW94877;Q8NHP1 Hs.662342 2185425;5017433 SHGC-74333;STS-T76997 AFAR3;AFB1-AR3;AKR7A4 AFB1 aldehyde reductase 3;AFB1-AR 3;OTTHUMP00000211099;OTTHUMP00000211100;OTTHUMP00000211101;aflatoxin B1 aldehyde reductase 3;aflatoxin B1 aldehyde reductase member 4;aldoketoreductase 7-like APPROVED pseudo ENSG00000211454 HGNC:24056 12240 608478 REVIEWED 733693 AKR7A3 aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004] 1 1 1 p36.13 17936048 17942271 - 19609057 19615280 - 19282563 19288786 - 1580863;6480464 10383892;12477932;12879023;15489334;16189514;16341674;16710414;19056867;20453000;21044950;23824909 22977 O95154 AA844782;ABBA01059756;AF040639;AJ271799;AL035413;AMYH02000421;BC025709;BC031562;BC042420;BG747063;BM855386;BM920315;CH471134;NM_012067 AAD02195;AAH25709;AAH31562;AAH42420;ABW03342;ABW03686;ACE86642;ACE87324;CAC81076;EAW94878;EAW94879;NP_036199;O95154 Hs.6980 AFAR2 AFB1 aldehyde reductase 2;AFB1-AR 2;OTTHUMP00000002623;aflatoxin B1 aldehyde reductase 2;aflatoxin B1 aldehyde reductase member 3;aflatoxin b1 aldehyde reductase APPROVED protein-coding HGNC:390 07089 608477 VALIDATED 1323832 AKT1S1 AKT1 substrate 1 (proline-rich) AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008] 19 19 19 q13.33 47241806 47250153 - 50372290 50381613 - 49869033 49878356 - 737633;2308795;6480464;6484113;8554872 12477932;19339977 12524439;14702039;14973226;15161933;15302935;15324660;15489334;16169070;16174443;16344560;17081983;17277771;17386266;17510057;17604271;18030348;18215133;18372248;18570873;19446321;20169205;21886838;21900206;21906675;21910584;21914810;21981924;22090422;22241085;22354785;22863883;22873724;23444366;23460019;23712034;24255178;8125298 84335 H9KV91;M0R2V8;Q96B36 ABBA01032908;AC118341;AK055511;AK092610;AK123687;AK226004;AK316603;AMYH02036332;BC000031;BC007416;BC015562;BC016043;BC022241;BC051844;CH471177;DA005259;DA476468;DA542314;DA848626;NM_001098632;NM_001098633;NM_001278159;NM_001278160;NM_032375 AAH00031;AAH07416;AAH15562;AAH16043;AAH51844;BAB70937;BAG38190;BAG52583;EAW52568;EAW52569;EAW52570;EAW52571;NP_001092102;NP_001092103;NP_001265088;NP_001265089;NP_115751;Q96B36 Hs.515542;Hs.610819 2168315 RH36488 Lobe;MGC2865;PRAS40 40 kDa proline-rich AKT substrate;OTTHUMP00000196756;OTTHUMP00000196757;OTTHUMP00000196758;OTTHUMP00000196759;OTTHUMP00000196760;proline-rich AKT1 substrate 1;proline-rich Akt substrate, 40 kDa APPROVED protein-coding ENSG00000204673 HGNC:28426 12441 610221 VALIDATED 732909 AKT1 v-akt murine thymoma viral oncogene homolog 1 The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. 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207 B0LPE5;B3KVH4;G3V2I6;G3V3K5;G3V3X1;G3V4I6;P31749 A62733;A63232;AB451242;AB451367;ABBA01002983;ABBA01002984;ABBA01002985;AF283830;AK094287;AK122894;AK131465;AK299310;AK314256;AL583722;AL590327;AMYH02029951;AMYH02029952;BC000479;BC001737;BC063408;BC084538;BX647722;BX648205;CH471061;CN414251;EU332835;JC006886;JX512440;KF836747;KF836748;KF836749;KF836750;M63167;NG_012188;NM_001014431;NM_001014432;NM_005163;X61037;XM_005267401 AAA36539;AAH00479;AAH01737;AAH84538;AAL55732;ABY87524;ACE86973;ACE87663;AGC09587;AHA61679;AHA61680;AHA61681;AHA61682;BAG36922;BAG53786;BAG70056;BAG70181;BAH12997;CAA03677;CAA03712;CAA43372;CDL93491;EAW81881;EAW81882;EAW81883;NP_001014431;NP_001014432;NP_005154;P31749;XP_005267458 Hs.525622 1668790;1696900;1774972;1792560;1795336;2144067;5022322 AKT1_41;D11S2560;PMC15397P1;RH101916;RH47592;RH69160;STS-AA041305 AKT;CWS6;MGC99656;PKB;PKB-ALPHA;PRKBA;RAC;RAC-ALPHA AKT1m;OTTHUMP00000244411;OTTHUMP00000244432;OTTHUMP00000244433;OTTHUMP00000244434;OTTHUMP00000244435;OTTHUMP00000244438;OTTHUMP00000244439;PKB alpha;RAC-PK-alpha;RAC-alpha serine/threonine-protein kinase;protein kinase B;protein kinase B alpha;proto-oncogene c-Akt;rac protein kinase alpha APPROVED protein-coding ENSG00000142208 HGNC:391 01261 114480;114500;164730;167000;176920;181500;615109 REVIEWED 732407 AKT2 v-akt murine thymoma viral oncogene homolog 2 This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. The gene was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins. [provided by RefSeq, Jul 2008] 19 19 19 q13.1-q13.2 37535771 37590707 - 40736224 40791443 - 40230317 40285536 - 1580863;734545;1601155;734958;632179;2313347;2311130;2313406;2313763;2315599;2313297;2313299;2313320;2313405;2313409;2313410;2315600;2315603;2302395;2302397;2313350;2313316;2313408;2306432;2313394;2307342;2290458;2290476;5490965;6480464;6484113;6907045;7240710;7248544;7248543;8554872;8699517 11311245;11387480;11756242;12089343;12145152;12663464;12782654;12902546;15166380;16418318;16721043;16847462;17210696;17327441;17629673;17641274;17923673;18204829;18508911;18570632;18955974;18972094;19084003;19289493;19309364;19330838;19470471;19491266;19506583;21979934 10490823;10491192;10869418;10983986;11139588;11156964;11208609;11278835;11313479;11432835;11445557;11500317;11507039;11546794;11707444;11781143;11903042;11948187;11988487;11994280;12048203;12114503;12149249;12167664;12176337;12176997;12181350;12434148;12477932;12480711;12482965;12517337;12517798;12524439;12545160;12697749;12733712;12791994;12808085;1409633;14500673;14504284;14612499;14637151;14645242;14654898;14699494;14702039;14735903;14973226;15010337;15070827;15102693;15111130;15144186;15146197;15314020;15489334;15531580;15557754;15616007;15678105;15689238;15890450;15987444;16221682;16365168;16402276;16524887;16540465;16814735;16841089;16982699;17012749;17030088;17157319;17276404;17332325;17349711;17372934;17482291;17535800;17576055;17577629;17804734;17825284;17895832;17908691;17914025;17962807;1801921;18048359;18187620;18281467;18300076;18316591;18353613;18660489;18768676;18826950;18842333;18996102;19064572;19074768;19075230;19079138;19110052;19164214;19197940;19261608;19435822;19453261;19479051;19713527;19771908;19797172;19825827;19843246;19875456;19913121;19933843;20012528;20018949;20019835;20041213;20056178;20056908;20059950;20102399;20109457;20116920;20133737;20167810;20186503;20354455;20398329;20409325;20447721;20514445;20602615;20628086;20661303;20687898;20688159;20691427;20818790;20848774;20856200;21029719;21048031;21050850;21092549;21179235;21182834;21297943;21423810;21432781;21483469;21507933;21518566;21590431;21606541;21618512;21636708;21680733;21697490;21722267;21763505;21765914;21832049;21890473;21906983;21932427;21979951;21988832;22031698;22107784;22158034;22261254;22480544;22556379;22748472;22778840;22809628;22904195;22939624;22952844;23018889;23077641;23092922;23250987;23251686;23301033;23305873;23321478;23444369;23464484;23468863;23567263;23604117;23742646;23746211;23777806;23811558;23900341;23929892;24030155;24039187;24056770;24123662;24244431;24247267;24250222;24321521;24623414;24642468;24656454;24769357;24797263;24816145;3037531;8622988;8889548;9374542;9394803;9512493;9528769;9736715 208 A8MX96;B4DG79;C9J258;C9JC83;C9JHS6;C9JIF6;C9JIJ1;E7EVP8;F6YBB4;J3KRI8;J3KSY8;J3KT31;J3KTC6;J3KTP4;J3QKW1;J3QL45;J3QLS6;J3QQM6;M0QZK3;M0QZW8;M0R0P9;M0R275;M0R283;P31751;Q0VAN0 ABBA01040746;ABBA01040747;ABBA01040748;AC118344;AK054771;AK055779;AK122839;AK294453;AK304209;AK308006;AK308906;AK314619;AMYH02036106;AMYH02036107;AMYH02036108;AMYH02036109;AY708392;BC022779;BC032709;BC040028;BC063421;BC120994;BC120995;BM675176;BQ219902;CH471126;CN351354;KC877734;M77198;M95936;NG_012038;NM_001243027;NM_001243028;NM_001626;XM_006723081;XM_006723082;XM_006723083;XM_006723084;XM_006723085 AAA36585;AAA58364;AAH22779;AAH32709;AAH63421;AAI20995;AAI20996;AAT97984;BAG37185;BAG51573;BAG57690;BAH14135;EAW56941;EAW56942;EAW56943;NP_001229956;NP_001229957;NP_001617;P31751;XP_006723144;XP_006723145;XP_006723146;XP_006723147;XP_006723148 Hs.631535 1767805;2125795;5015861;5037552;7185938 D10S16;D8S2279;RH11487;SGC30851 HIHGHH;PKBB;PKBBETA;PRKBB;RAC-BETA Murine thymoma viral (v-akt) homolog-2;OTTHUMP00000174417;PKB beta;RAC-PK-beta;RAC-beta serine/threonine-protein kinase;murine thymoma viral (v-akt) oncogene homolog 2;protein kinase Akt-2;protein kinase B beta;rac protein kinase beta APPROVED protein-coding ENSG00000105221 HGNC:392 01262 125853;164731;240900 REVIEWED 6481089 AKT3-IT1 AKT3 intronic transcript 1 (non-protein coding) q44 100874263 AL592151;BX503211 ncrna HGNC:41304 735623 AKT3 v-akt murine thymoma viral oncogene homolog 3 The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 1 q44 216939341 217293898 - 243651535 244014381 - 243488233 243851079 - 1580863;2313763;2290458;6480464;6484113;6907045;8699517;7240710;8554872 17641274;18955974 10092583;10208883;10419456;10491192;10773662;10869418;11076863;11156964;11208609;11230166;11322783;11387345;11466625;11489829;11707444;11994280;12162751;12167664;12176997;12477932;12663464;12692267;14637150;14702039;15466193;15489336;15543611;15579468;15616007;15678105;15689238;15698844;15987444;16381901;16524887;16540465;16841089;17157319;17178867;17668379;17895832;18029348;18160256;18300076;18451171;18524868;18813315;18826950;19261608;19435822;19626040;19713527;19913121;19953087;20018949;20031603;20056178;20059950;20102399;20167810;20186503;20354165;20398329;20628086;20647317;20661303;20818790;20980808;21029719;21048031;21139048;21191416;21351097;21423810;21441570;21483469;21487925;21507933;21590431;21606541;21697490;21763505;21765914;21777670;21821713;21890473;22107784;22234583;22262409;22500628;22729223;22729224;22729570;22904195;23077641;23251686;23301033;23303682;23599027;23603119;23604117;23726511;23742646;23746211;23794269;23811558;23929892;23974872;24039187;24156551;24247267;24335962;24462114;8619474;9110174;9305920;9394803;9512493 10000 F8VS91;Q9Y243 ABBA01047209;ABBA01047210;ABBA01047211;ABBA01047212;ABBA01047213;ABBA01047214;ABBA01047215;AC096539;AC225099;AF085234;AF124141;AF135794;AJ245709;AK055109;AK308052;AL117525;AL591721;AL592151;AL662889;AMYH02003066;AMYH02003067;AMYH02003068;AMYH02003069;AMYH02003070;AMYH02003071;AMYH02003072;AMYH02003073;AMYH02003074;AMYH02003075;AW960221;AX056819;AX251592;AY005799;BC019085;BC020479;BC121154;BG702262;CH471148;NG_029764;NM_001206729;NM_005465;NM_181690;U79271;XM_005272994;XM_005272995;XM_005272997;XM_006711725;XM_006711726;XM_006724959;XM_006724960;XM_006724961;XM_006724962;XM_006724963 AAD24196;AAD29089;AAF91073;AAH20479;AAI21155;AAL40392;CAB53537;CAB55977;CAC22382;CAC93797;CAL37669;CAL37727;EAW77093;EAW77094;NP_001193658;NP_005456;NP_859029;Q9Y243;XP_005273051;XP_005273052;XP_005273054;XP_006711788;XP_006711789;XP_006725022;XP_006725023;XP_006725024;XP_006725025;XP_006725026 Hs.498292 1339164;1655940;1659998;1692362;1718447;1724053;1735658;1751487;1757677;1765903;1781576;1795338;1848213;1851672;2110909;2119944;2125377;2144329;2145389;2145980;2154548;2163728;2174486;2176214 AKT3_697;AL009857;AL034042;D1S1902E;D1S1904E;D1S2811;D1S326E;G27428;RH119038;RH122424;RH12417;RH64659;RH70333;SHGC-105310;SHGC-146222;SHGC-148050;SHGC-149315;SHGC-30478;SHGC-60158;SHGC-76607;SHGC-76615;SHGC-76617;SHGC-76619;SHGC-76620 DKFZp434N0250;MPPH;MPPH2;PKB-GAMMA;PKBG;PRKBG;RAC-PK-gamma;RAC-gamma;STK-2 OTTHUMP00000037911;OTTHUMP00000037912;OTTHUMP00000241402;PKB gamma;RAC-gamma serine/threonine protein kinase;RAC-gamma serine/threonine-protein kinase;protein kinase Akt-3;protein kinase B gamma;serine threonine protein kinase, Akt-3;thymoma viral proto-oncogene 3;v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) APPROVED protein-coding ENSG00000117020 HGNC:393 06441 603387;611223;615937 REVIEWED 736545 ALAD aminolevulinate dehydratase The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. [provided by RefSeq, Jul 2008] 9 9 9 q33.1 86796194 86811219 - 116148592 116163618 - 113386312 113401338 - 1599013;1599014;1599011;1601156;1580863;1578396;4144806;4144168;4144137;4144142;4144146;4144542;4144150;4144152;4144202;4144163;6480464;6907045;7240710;8554872;8699517 11335187;16597373;16839620;17204241;17320826;17720948;18778733;19022878;19043199;19484701;19647414;20026167;2222472;6721832 10519994;10706561;11032836;11413692;11427399;11444968;11459423;1156566;11591653;11800328;11860952;11909869;12469218;12477932;12611663;12665801;12878157;12896855;12972060;14527840;14694653;15064157;15164053;15213514;15258767;15381398;15386154;15489334;15587989;1569184;15915653;15954127;1602151;16140629;16203232;16263504;16344560;16377642;16445899;16487505;16497859;16730797;16757504;1678509;17164378;1716854;17291479;17366816;17383846;17649958;17823382;17966070;18271513;18282196;18432999;18569569;18676680;18784554;18795909;18936436;19028776;19170196;19327888;19440429;19515364;19548578;19625176;19686844;19692168;19723536;19766174;19789817;19812033;20021040;20021192;20069172;20123609;20406759;20510440;2063868;20798009;21139048;21293208;21327641;21396434;21439310;21762684;21799727;22101007;22298357;22797925;22851944;22863883;24156693;24500903;24631795;3036687;3092810;3327436;3463993;3758678;6378062;6839527;7450139;8188255 210 B7Z3I9;B7ZBK6;B7ZBK7;B7ZBK8;P13716;Q6ZMU0 AA593706;ABBA01042684;ABBA01042685;AK131490;AK290490;AK295945;AK312552;AL137066;AMYH02021510;AU279870;AY319481;BC000977;BU625796;BX494400;CH471090;DA412142;DA805310;M13928;NG_008716;NM_000031;S99468;S99471;X64467;XM_005251799 AAA51687;AAC60581;AAC60582;AAH00977;AAP72012;BAD18635;BAF83179;BAG35449;BAH12225;CAA45796;EAW87379;EAW87380;NP_000022;P13716;XP_005251856 Hs.1227 1649337;1682461;1741723;1788038;1788040;1788042;1788044;1788046;1788048;2180072;2191293 G67278;G67279;G67280;G67281;G67282;G67283;GDB:182364;MARC_17135-17136:1021046712:3;RH67978;RH71467;STS-X64467 MGC5057;PBGS ALADH;OTTHUMP00000021953;aminolevulinate, delta-, dehydratase;delta-aminolevulinic acid dehydratase;porphobilinogen synthase APPROVED protein-coding ENSG00000148218 HGNC:395 00504 125270;612740 REVIEWED 1322487 AKTIP AKT interacting protein The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 16 16 16 q12.2 38040003 38051981 - 53525192 53538323 - 53491280 53504411 - 6480464 12477932;14702039;14749367;15489334;16169070;16189514;17207965;17353931;18029348;18799622;19270026;19549727;20132317;20635389;20945372;21424602;24250222;8125298;8626685;9383278;9501314 64400 H3BM79;H3BNB8;H3BRT7;H3BRV2;H3BSX7;H3BVH0;Q9H8T0 ABBA01066495;AC007342;AK023320;AK098222;AK222743;AK303503;AL133106;AMYH02032047;AX259368;BC001134;BC095401;BG568989;BI545474;CH471092;CR457308;NM_001012398;NM_022476;XM_005256094;XM_005256095;XM_005256096;XM_005256097;XM_005256098 AAH01134;AAH95401;ADQ32518;BAB14524;BAD96463;BAG64536;CAD10180;CAG33589;CAH56392;EAW82803;EAW82804;EAW82805;EAW82806;EAW82807;EAW82808;EAW82809;NP_001012398;NP_071921;Q9H8T0;XP_005256151;XP_005256152;XP_005256153;XP_005256154;XP_005256155 Hs.380897 1677222;1684522;1796666;2167151;2173690;5015961;5020948;5022322;5037552;5109281 D11S2560;D15S1477;D16S2536E;D1S1425;D8S2279;G35510;RBL2_1295;RH65767;RH75186;RH94082 FT1;FTS AKT-interacting protein;OTTHUMP00000164256;fused toes homolog;fused toes homolog (mouse);fused toes protein homolog APPROVED protein-coding ENSG00000166971 HGNC:16710 07467 608483 REVIEWED 68572 ALAS1 aminolevulinate, delta-, synthase 1 This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 3 3 3 p21.1 52211428 52227655 + 52232099 52248343 + 52198083 52214327 + 1580863;1601233;1300048;1578396;4144542;4144178;4144185;4144834;4145274;4144808;6480464;6484113;6907045 12627002;16125296;16181105;16839620;16846079;6688350;7547054 11267664;11566198;11929042;11929048;12433930;12477932;12878157;15028279;15123725;15477213;15489334;15547665;15710391;15797241;16234850;16730941;16751776;17628775;17672918;18029348;18719978;19460752;19477221;19656447;19913121;20237496;20628086;20877624;2095458;21048031;21659532;21900206;21906983;21926972;21963094;21987572;21988832;22505724;2263504;23024262;2347585;23974872;24250222;3671094;7698013;8424176 211 H7C4H7;H7C5B0;P13196;Q5JAM2 AB063322;ABBA01024511;AC097637;AI868691;AK293190;AK300993;AK312566;AMYH02006798;AU279391;AX399848;AY260745;BC011798;BM546974;BU173391;CD014147;CH471055;NM_000688;NM_199166;X56351;XM_005264944;XM_005264945;Y00451 AAH11798;AAP94018;ADZ15340;BAB93514;BAG35461;BAG56730;BAG62612;CAA39794;CAA68506;CAD33292;EAW65188;EAW65189;EAW65190;NP_000679;NP_954635;P13196;XP_005265001;XP_005265002 Hs.476308 1649007;1734834;1743149;2140833;2186240;5016844 D2S1587E;GDB:273584;RH69932;RH77906;RH93452;SHGC-31564 ALAS;ALAS-H;ALAS3;MIG4 5-aminolevulinate synthase, nonspecific, mitochondrial;5-aminolevulinic acid synthase 1;ALASH;OTTHUMP00000212619;OTTHUMP00000212620;OTTHUMP00000212621;OTTHUMP00000212622;delta-ALA synthase 1;delta-aminolevulinate synthase 1;migration-inducing protein 4 APPROVED protein-coding ENSG00000023330 HGNC:396 00505 125290 VALIDATED 736755 ALAS2 aminolevulinate, delta-, synthase 2 The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X X p11.21 58870631 58892640 - 55035488 55057497 - 55009055 55031064 - 1599037;1599038;1580863;1300048;1578396;4144542;6480464;6907045;7240710;8554872;8699517 16839620;17082564;7949148 10029606;10577279;10727444;12031592;12393718;12477932;12663458;14643893;15166166;15342556;1570328;15772651;1577484;16121195;16234850;16446107;18555711;18569569;18624398;18760763;19066423;19187226;1939222;19731322;2050125;20850938;21207956;21252495;21309041;21653323;21800356;22269113;2263504;22740690;23223129;23263862;23348515;23364466;23409301;2347585;23935018;24166784;546546;8107717;8889548;9642238;9858242 212 H0Y6R3;P22557 AA778169;ABBA01069569;AF068624;AK290565;AK291589;AK313118;AL020991;AMYH02039495;AY190322;AY532069;AY532070;AY532071;AY532072;AY532073;AY532074;AY532075;AY532076;AY532077;AY532078;AY532079;AY532080;AY532081;AY532082;AY532083;AY532084;AY532085;AY532086;AY532087;AY532088;AY532089;AY532091;AY532092;AY532093;AY532094;AY532095;AY532096;AY532097;AY532098;AY532099;AY532100;AY532101;AY532102;AY532103;AY532104;AY532105;AY532106;AY532107;AY532108;AY532109;BC030230;BM677888;BP233279;BP284609;BQ182291;CH471154;NG_008983;NM_000032;NM_001037967;NM_001037968;X56352;X60364;XM_005261995;Z83821 AAC39838;AAH30230;AAO37821;AAT09371;AAT09372;AAT09373;AAT09374;AAT09375;AAT09376;AAT09377;AAT09378;AAT09379;AAT09380;AAT09381;AAT09382;AAT09383;AAT09384;AAT09385;AAT09386;AAT09387;AAT09388;AAT09389;AAT09390;AAT09391;AAT09393;AAT09394;AAT09395;AAT09396;AAT09397;AAT09398;AAT09399;AAT09400;AAT09401;AAT09402;AAT09403;AAT09404;AAT09405;AAT09406;AAT09407;AAT09408;AAT09409;AAT09410;AAT09411;BAF83254;BAF84278;BAG35939;CAA39795;CAA42916;EAW93211;EAW93212;EAW93213;NP_000023;NP_001033056;NP_001033057;P22557;XP_005262052 Hs.522666;Hs.555936 1646995;1646997;1686164;1774363;1778167;2121191;2147381;2182615;2220286;5093720 A009V31;AL023933;ALAS2;G32884;GDB:193183;RH16577;RH94266;SGC33540;WI-12678;WI-16860 ALAS-E;ANH1;ASB;FLJ93603;XLDPP;XLEPP;XLSA 5-aminolevulinate synthase, erythroid-specific, mitochondrial;5-aminolevulinic acid synthase 2;ALASE;OTTHUMP00000023388;OTTHUMP00000023389;OTTHUMP00000204081;aminolevulinic acid synthase 2;delta-ALA synthase 2;delta-ALA synthetase;delta-aminolevulinate synthase 2 APPROVED protein-coding ENSG00000158578 HGNC:397 02356 300751;300752;301300 REVIEWED 735404 ALB albumin Albumin is a soluble, monomeric protein which comprises about one-half of the blood serum protein. Albumin functions primarily as a carrier protein for steroids, fatty acids, and thyroid hormones and plays a role in stabilizing extracellular fluid volume. Albumin is a globular unglycosylated serum protein of molecular weight 65,000. Albumin is synthesized in the liver as preproalbumin which has an N-terminal peptide that is removed before the nascent protein is released from the rough endoplasmic reticulum. The product, proalbumin, is in turn cleaved in the Golgi vesicles to produce the secreted albumin. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 71629770 71646928 + 74269972 74287129 + 73404255 73421412 + 1599027;1599028;734959;1599033;1580863;1601159;1601157;1601160;1601158;2306884;2306882;2306885;2306886;2325678;2325680;2325679;2325683;2325675;2325682;2325676;2325677;2325686;6480464;5135032;6483494;6484113;6483512;7240710;8551793;8554872 10776430;15102963;16753933;1690892;17545000;18154768;19011933;19246226;19397971;19414946;19424163;20193666;20358256;20431764;20508721;21441310;22592748;22607558;23261756;6468510;7937781;8048949;8664482;8677191;908508 10086322;10388840;10580404;10780709;10811843;10940303;11140838;11145723;11158855;11159893;11168369;11483580;11680902;11689002;11734007;11743520;11743713;11781148;11810025;11847277;11906609;11931649;12007569;12009306;12118010;1225573;12477932;12480711;12566415;12601813;12617161;12665801;12732844;12815038;12969171;12970360;12975309;1347703;13677478;1390939;14520007;14579113;14687905;14718574;14726550;14759223;14983239;15137089;15149953;15174051;1518850;15210122;15324660;15353599;15489334;15502818;15604093;15616580;15646839;15716124;15740590;15832324;15837789;15890566;15913893;15942949;15952740;15996651;1602151;16037246;16054887;16099937;16153637;16156788;16159939;16169013;16169070;16201370;16213467;16245148;16253963;16283771;16289007;1630489;16307046;16324740;16329499;16337614;16344560;16394536;16405401;16413734;16413740;16413837;16454580;16608438;16703327;16705651;16721655;16843720;16892178;16916777;16939204;16979183;17002873;17048273;17048876;17054386;17058928;17064838;17067818;17109502;17184834;17200780;17301560;17347578;17438360;17460892;17467280;17499233;17575979;17587712;17603933;17940721;17987802;18028874;18029235;18054940;18068661;1810199;18178096;18192916;1819460;18200582;18200583;18256067;18287254;18323672;18337751;18346470;18386863;18459107;18464274;18474236;18513410;18579803;1859851;18791744;18958405;18979581;19011736;19056867;19139584;19212124;19298387;19318029;19339807;19375269;19377253;19404566;19450464;1946412;19484197;19505594;19520864;19572666;19588173;19601929;19615354;19615732;19664386;19707690;19711930;19733855;19734142;19785033;19883602;19884191;19955769;19996109;20006594;20018394;20018855;20025859;20160662;20171595;20211614;20215742;20306030;20346571;20381621;20471030;20473970;20603593;2068071;20692819;20705604;20716240;20818804;20828817;20835227;2104980;21139048;21190025;21190670;21193536;21228463;21271345;21326965;21357544;21439346;21456469;21488149;21494773;21521316;21539799;21565611;21635915;21832049;21843484;21890473;21900206;21950461;21997768;22079093;22120732;22209935;22244477;22286219;22306656;22351593;22437883;22440250;22450170;2247440;22513409;22549788;22613267;22630368;22642562;22658569;22675238;22685563;22718756;22797925;22815976;22832880;22870899;22878801;22905377;22968245;22982313;23099538;23103397;23104623;23176518;23182422;23215783;23285146;23351092;23360066;2339130;23398456;23473402;23531836;23535732;23538348;23592780;23673386;23711095;23724004;23732484;2374930;23840401;23862649;23886889;23888317;23891063;23904329;23958299;24038622;2404284;24076337;24096130;24146932;2419329;24244333;24280624;24319355;2437111;24416244;24449167;24477648;24485317;2460858;24627724;24646103;24652290;24744315;24769178;24798807;24816145;25051913;2564675;2727704;2762316;2792379;2898383;2901102;2911589;2914956;3009475;3081519;3087352;325004;3353369;3474609;3479777;3759977;3795040;3828358;4027254;4062880;571335;6171778;6173750;6192711;6275391;6292049;6324579;6457647;656055;683332;6864486;6933567;7297678;7557095;7576927;7578225;7852505;7882997;7895732;7902134;8022807;8063017;8064810;8132774;8134387;8312056;8347685;8513793;8605586;8889549;8898021;9168236;9183005;9329347;955075;9589637;9618718;9731778 213 B7WNR0;C9JKR2;D6RCE7;D6RHD5;H0YA55;H7C013;P02768 A06977;ABBA01022989;ABBA01022990;AC108157;AF190168;AF542069;AK292755;AK298437;AK298461;AK308044;AK314794;AMYH02009464;AY358313;AY544124;AY550967;AY728024;AY960291;BC014308;BC034023;BC034026;BC035969;BC036003;BC039235;BC041789;BJ993972;CH471057;CR749331;CS339763;DA536463;DA642320;DQ986150;EF649953;GM662929;GN367252;HC484161;HQ537426;M12523;N53869;NG_009291;NM_000477;S69192;S70799;V00494;V00495;X51363;X51364;X51365 AAA98797;AAA98798;AAB30282;AAB31177;AAF01333;AAH14308;AAH34023;AAH35969;AAH36003;AAH41789;AAN17825;AAQ89947;AAT11155;AAT52213;AAU21642;AAX63425;ABJ16448;ABM82340;ABM85514;ABS29264;AEE60908;BAF85444;BAG37325;BAG60658;BAG60674;CAA00606;CAA23753;CAA23754;CAA35747;CAA35748;CAA35749;CAH18185;CAL14739;CAV33840;CAY85984;CBL66721;EAX05659;EAX05660;EAX05661;EAX05662;EAX05663;EAX05664;EAX05665;EAX05666;EAX05667;EAX05668;EAX05669;EAX05670;EAX05671;EAX05672;EAX05673;EAX05674;EAX05675;EAX05676;EAX05677;EAX05678;NP_000468;P02768 Hs.418167;Hs.592379 1655096;1675098;1741147;1741149;1741217;1743467;1743469;1743471;1743473;1743475;1743477;1743479;1743481;1743483;1743485;1743487;1743489;1743491;1743493;1791534;1791976;1794962;1795022;1795024;1849168;1856189;1857502 D4S2818;G34388;G34389;GDB:178382;GDB:178383;GDB:178648;GDB:340866;GDB:340869;GDB:340872;GDB:340875;GDB:340878;GDB:340881;GDB:340884;GDB:340887;GDB:340891;GDB:340894;GDB:340897;GDB:340900;GDB:340903;GDB:340906;PMC114008P1;PMC134004P1;PMC86453P1;PMC87818P1;PMC87818P2;RH11066;SHGC-59619 ANALBA;DKFZp779N1935;FDAH;PRO0883;PRO0903;PRO1341 OTTHUMP00000160370;OTTHUMP00000196832;OTTHUMP00000220435;OTTHUMP00000220436;OTTHUMP00000220438;OTTHUMP00000220439;albumin (32 AA);albumin (AA 34);cell growth inhibiting protein 42;growth-inhibiting protein 20;serum albumin APPROVED protein-coding ENSG00000163631 HGNC:399 00062 103600;615999;616000 REVIEWED 733283 ALCAM activated leukocyte cell adhesion molecule This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011] 3 3 3 q13.1 103484109 103694111 + 105085557 105295757 + 105366713 105576913 + 1580863;734960;6480464 631856 10673383;11306570;12477932;12481253;12754519;12843199;14702039;15140234;15169840;15496415;16024937;16204050;16335952;16344560;16650408;16712791;16799092;16818742;16818773;16865058;17624664;17971418;18157132;18171982;18172759;18202807;18279810;18347173;18483249;18810438;19056867;19142865;19322904;19337990;19603023;19626493;19913121;20180536;20208136;20220571;20364042;20530423;20606680;20628086;20726988;20826154;20929568;20952758;20972617;21119604;21126364;21139048;21293922;21364949;21430457;21440089;21670959;21683980;21757661;21816001;21816425;21858815;21906983;21915031;21935604;21988832;22082156;22130902;22166264;22304788;22482754;22555284;22704111;22722789;22745698;22745734;22880034;23000965;23052204;23148625;23169448;23169771;23507476;23539446;23840677;23903875;23922698;23940674;24044434;24385212;24482231;24529757;24662291;24710410;24816145;7543097;7760007;8520490;8823162;9436462;9502422;9920831 214 B3KNN9;F5GXJ9;H7C543;Q13740 AB074167;ABBA01061728;ABBA01061729;ABBA01061730;ABBA01061731;ABBA01061732;AC023602;AC078806;AC133476;AK054632;AK095833;AK127617;AK300362;AK301804;AK316113;AL833702;AMYH02007361;AMYH02007362;AMYH02007363;AMYH02007364;AY644765;BC029639;BC041127;BC057809;BC137096;BC137097;CA430528;CB145726;CH471052;DA318514;DB541501;DQ486139;DQ486140;KF457664;L38608;NG_029729;NM_001243280;NM_001243281;NM_001243283;NM_001627;Y10183 AAB59499;AAH57809;AAI37097;AAI37098;AAV28819;ABF48405;ABF48406;BAC87059;BAG51401;BAG62102;BAG63255;BAH14484;CAA71256;EAW79755;EAW79756;EAW79757;NP_001230209;NP_001230210;NP_001230212;NP_001618;Q13740 Hs.591293;Hs.740441 1674587;1705434;1721411;1752463;1754021;1795340;2114711;2117471;2126887;2159053;2159835 ALCAM_699;D3S4183;G59557;RH46353;SGC38382;SHGC-106342;SHGC-132061;SHGC-35488;SHGC-83798;STS-W51882;WIAF-1714 CD166;FLJ38514;MEMD;MGC71733 CD166 antigen;OTTHUMP00000214313;OTTHUMP00000214314;OTTHUMP00000214315;activated leucocyte cell adhesion molecule APPROVED protein-coding ENSG00000170017 HGNC:400 03389 601662 REVIEWED 1350465 ALDH16A1 aldehyde dehydrogenase 16 family, member A1 This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 19 19 19 q13.33 46823977 46843666 + 49956473 49974305 + 49453216 49471048 + 1580863;6480464;8554872 12477932;14702039;16344560;16751776;17353931;19184135;19615732;19946888;21139048;21890473;21906983;21963094;21987572;22505724;22863883;23348497;24147044;24250222;24654937;8619474;9110174 126133 F5H4B6;M0QY06;M0QYY1;Q8IZ83 ABBA01032926;ABBA01032927;ABBA01032928;AC010619;AK024182;AK074136;AK297101;AK298587;AK301246;AMYH02036317;AY007096;BC014895;BC035641;BC042142;CH471177;DA629821;DC364604;NG_012747;NM_001145396;NM_153329 AAH14895;AAH35641;AAH42142;BAB84962;BAG59613;BAG60777;BAG62813;EAW52482;EAW52483;EAW52484;NP_001138868;NP_699160;Q8IZ83 Hs.719998 5015961;5016700;5023137;5024035;5037552;5109281;5117897 27268et;D13S116;D15S1477;D1S1425;D8S2279;GDB:631813;RH79802 MGC10204 aldehyde dehydrogenase family 16 member A1 APPROVED protein-coding ENSG00000161618 HGNC:28114 14394 613358 REVIEWED 1350073 ALDH18A1 aldehyde dehydrogenase 18 family, member A1 This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q24.3 91106883 91157764 - 97365686 97416759 - 95605929 95656810 - 1580863;6480464;6907045;7240710;8554872 10037775;11092761;12477932;15164054;15489334;15517380;15576338;16385451;17000644;17314511;18029348;18401542;18478038;18781797;19615732;20186120;20360068;20379614;20819778;20877624;20946940;21081666;21139048;21145461;21319273;21739576;21890473;21906983;21987572;22354994;22505724;22586326;22939629;23125841;23383273;23798571;24255178;24583282;24816145;25027693;8125298;8761662;8921385 5832 P54886 ABBA01021834;AK126355;AK225455;AK225465;AK226032;AK295487;AK299557;AK312271;AL356632;AMYH02023582;AW467503;BC106054;BC117240;BC117242;BC143930;BU170321;CD642171;CH471066;NG_012258;NM_001017423;NM_002860;U68758;U76542;X94453;XM_006717933 AAD00169;AAD17454;AAI06055;AAI17241;AAI17243;AAI43931;ADR83253;BAG35201;BAH12086;BAH13064;CAA64224;EAW49994;EAW49995;EAW49996;EAW49997;NP_001017423;NP_002851;P54886;XP_006717996 Hs.500645 1856285;2109715;5022578;5037552;5494092 D10S2402;D1S1423;D8S2279;PYCS__6971;fc35a07.x1 ARCL3A;GSAS;MGC117316;P5CS;PYCS OTTHUMP00000020159;OTTHUMP00000020160;aldehyde dehydrogenase family 18 member A1;delta-1-pyrroline-5-carboxylate synthase;delta-1-pyrroline-5-carboxylate synthetase;delta1-pyrroline-5-carboxlate synthetase;pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) APPROVED protein-coding ENSG00000059573 HGNC:9722 00696 138250;219150 REVIEWED 736747 ALDH1A1 aldehyde dehydrogenase 1 family, member A1 The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011] 9 9 9 q21.13 46088447 46140830 - 75515578 75653633 - 72900662 72953317 - 1580863;1300048;2325688;6480464;6484672;6771354;6907045;8699517 19216797;21138835;21621639 12081471;12174908;12477932;14506398;14678778;15489334;15597079;15852347;16189514;16857736;16878979;1709013;17175089;17222227;17286337;17502835;17628022;18029348;18082256;18331377;18343808;18371393;18450747;18496131;18644979;18848913;18854779;19018242;19025616;19056867;19129088;19296407;19329942;19343046;19385968;19447584;19450560;19478994;19696793;19703508;19706361;19774675;19808966;19874574;19911270;20010854;20019840;20142235;20228222;20379614;20422001;20516116;20585849;20596639;20606680;20634891;20889728;20959018;20959469;21045151;21098716;21118965;21231983;21282737;21336637;21371077;21399615;21441790;21482329;21695188;21708005;21804471;21827011;21907803;21988832;22005464;22012766;22014057;22080062;22098156;22101256;22115706;22123295;22131125;22195027;22260461;22380773;22407396;22417385;22430847;224930;22544210;22581680;22591209;22608744;22617249;22649953;22710732;22725270;22782852;22877687;22878609;22887839;22899292;22928012;22930220;22938492;23005595;23084350;23112116;23132408;23220285;23236537;23252868;23267077;23295229;23332924;23383108;23434145;23438482;23454351;23465277;23483187;23585015;23707659;23759596;23762304;23787917;23799031;23805041;23845466;23916993;23969936;24008128;24043631;24080087;24120944;24210755;24266898;24285422;24289252;24327017;24422956;24464599;24485040;24511023;24519209;24596390;24654937;24770634;24786601;24865427;2591967;2776714;2987944;3013004;3397064;3676276;4015823;6427007;6723659;730161;8214422;8493914;9166904;9240474;9723161 216 P00352;Q5SYQ7;Q5SYQ8;Q5SYQ9;V9HW83 AB209821;ABBA01033867;AF003341;AI074764;AK000118;AK026641;AK293176;AK302168;AL591031;AMYH02020984;AY338497;AY390731;BC001505;BG773210;BT006921;CH471089;DC398835;EU668318;EU794589;FJ224286;HC025826;K03000;M26761;M31994;NG_012249;NM_000689;S61235 AAA35518;AAA51692;AAA51695;AAC51652;AAD13925;AAH01505;AAP35567;AAP88039;AAR92229;ABM81595;ABM84776;ACF94471;ACI45978;ACJ13643;BAD93058;BAG56719;BAG63535;CBH19844;EAW62543;EAW62544;NP_000680;P00352 Hs.76392 1695836;1797272;1858146;2142530 ALDH1A1__2601;HUM00D1B06;RH12740;SHGC-78774 ALDC;ALDH-E1;ALDH1;ALDH11;HEL-9;HEL-S-53e;HEL12;MGC2318;PUMB1;RALDH1 ALDH class 1;ALHDII;OTTHUMP00000021482;RALDH 1;acetaldehyde dehydrogenase 1;aldehyde dehydrogenase 1, soluble;aldehyde dehydrogenase family 1 member A1;aldehyde dehydrogenase family 1, member a1;aldehyde dehydrogenase, cytosolic;aldehyde dehydrogenase, liver cytosolic;epididymis luminal protein 12;epididymis luminal protein 9;epididymis secretory sperm binding protein Li 53e;retinal dehydrogenase 1;retinaldehyde dehydrogenase 1 APPROVED protein-coding ENSG00000165092 HGNC:402 00001 100640 REVIEWED 734163 ALDH1A2 aldehyde dehydrogenase 1 family, member A2 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011] 15 15 15 q21.3 35135291 35247470 - 58245622 58358121 - 57953424 58065923 - 734550;1580863;734961;734962;1576367;1300048;6480464;6771322;6484672;6771354;6907045;8554872 12547725;12563036;12702665;15950969;21138835;21621639;7426208 10192400;11953746;12477932;14702039;14718574;15489334;16166285;16237707;16368932;17266347;18029348;18495959;19343046;19478994;19609347;19703508;19886994;20308937;20375987;20379614;20450613;21139048;21890473;22505724;22930583;23507523;23833249;24121790;24524833;24728293;24816145;8663198;8797830;9819382 8854 E9PF31;H0YKL3;H0YMG7;H0YMT5;O94788;Q9UED3 AA447978;AB015226;AB015227;AB015228;AB015229;ABBA01038986;ABBA01038987;AC012653;AC025431;AK128709;AK294981;AK303057;AL110274;AL110299;AL137418;AMYH02030522;BC030589;BI459110;BX443600;CH471082;DB458699;DQ322171;NG_012259;NM_001206897;NM_003888;NM_170696;NM_170697 AAH30589;ABC40749;ABM82494;ABM85686;BAA34785;BAA34786;BAA34787;BAA34788;BAG54714;BAG58050;BAG64174;CAB53740;EAW77528;EAW77529;EAW77530;NP_001193826;NP_003879;NP_733797;NP_733798;O94788 Hs.643455 1707188;1718725;1769763;1852810;2217002 ALDH1A2_1803;G17842;RH123050;SHGC-79179;STS-AA036780 MGC26444;RALDH(II);RALDH2;RALDH2-T OTTHUMP00000163462;OTTHUMP00000163463;RALDH 2;aldehyde dehydrogenase family 1 member A2;aldehyde dehydrogenase family 1, subfamily a2;retinal dehydrogenase 2;retinaldehyde-specific dehydrogenase type 2 APPROVED protein-coding ENSG00000128918 HGNC:15472 04733 603687 REVIEWED 1353558 ALDH1A3 aldehyde dehydrogenase 1 family, member A3 This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 15 15 15 q26.3 77832935 77870170 + 101419897 101456831 + 100879804 100916626 + 1580863;6480464;6771354;6771322;6484672;6907045;8699517;7240710;8554872 15950969;21138835;21621639 11585737;12040753;12477932;14702039;15245423;15489334;19322201;19343046;19478994;19703508;20709019;20833146;20967262;21280157;21906983;21963094;22131125;22960273;23250514;23312594;23436614;23591992;23646827;23650391;23881059;24024553;24047698;24053169;24167362;24568872;24777706;24907115;25027693;7698756;9490025 220 H0Y2X5;H0YKF9;H0YLT1;H0YNQ3;P47895 ABBA01020531;ABBA01020532;AC015712;AK056534;AK302607;AK303441;AK312303;AL110109;AMYH02031165;AMYH02031166;BC009245;BC069274;BC101605;BC117365;BX538027;CH471101;DB480234;HG507539;HG507540;HG507541;NG_012254;NM_000693;NM_001293815;U07919;XR_109231;XR_111558;XR_172102;XR_243247;XR_248182;XR_253467 AAA79036;AAH69274;AAI01606;AAI17366;ACE86700;ACE87384;BAG35229;BAG63855;BAG64488;CAD97973;EAX02281;EAX02282;EAX02283;NP_000684;NP_001280744;P47895 Hs.459538;Hs.612155 1783242;1795342;1852432;2122708;2147607 ALDH1A3_289;D15S1345;RH48812;RH66397;SHGC-154796 ALDH1A6;ALDH6;MCOP8;RALDH3 OTTHUMP00000194835;RALDH-3;acetaldehyde dehydrogenase 6;aldehyde dehydrogenase 6;aldehyde dehydrogenase family 1 member A3;retinaldehyde dehydrogenase 3 APPROVED protein-coding ENSG00000184254 HGNC:409 02713 600463;615113 REVIEWED 1606025 ALDH1L1 aldehyde dehydrogenase 1 family, member L1 The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 3 3 3 q21.3 124246087 124323172 - 125822404 125900029 - 126103561 126181186 - 6480464;6907045;7242562;8554872 22353665 10204077;12065246;12477932;12805405;17111379;17119116;17548676;17891500;18676680;18830263;18848533;19018242;19048631;19056867;19064578;19161160;19170196;19343046;19447584;19625176;19692168;19851296;19913121;19935739;19936946;20198315;20453000;20628086;20634891;20729910;20737570;20877624;21046559;21215736;21238436;21540484;21779486;21987076;22039442;22491060;22593801;23378610;24324551;25114248;2733692;7972060;8125298 10840 B4DGC8;C9IZ36;C9JY00;C9JYZ6;D6RFJ7;F2Z324;F8WC34;O75891;Q53H87;Q8TBP8 AA639766;AB209299;ABBA01016395;AC079848;AF052732;AK124908;AK222535;AK222694;AK294392;AK294530;AK307699;AK308112;AL133015;AMYH02007580;BC027241;BC045645;BI829048;CH471052;CR749807;DC342268;KM111188;NG_012260;NM_001270364;NM_001270365;NM_012190;NR_072979;XM_006713481;XM_006713482 AAC35000;AAH27241;ACE86814;ACE86815;ACE87501;ACE87502;ADZ15394;AIL83748;BAC85992;BAD92536;BAD96255;BAD96414;BAG57647;BAG57739;CAB61356;CAH18667;EAW79370;EAW79371;EAW79372;NP_001257293;NP_001257294;NP_036322;O75891;XP_006713544;XP_006713545 Hs.434435 1696462;1708490;2156088;5015619;5015961;5037552 D11S3114;D15S1477;D8S2279;G06984;SHGC-79487;SHGC-79784 10-FTHFDH;10-fTHF;DKFZp781N0997;FDH;FTHFD 10-formyltetrahydrofolate dehydrogenase;MER57B-ALDH1L1;OTTHUMP00000155221;OTTHUMP00000214696;OTTHUMP00000214700;OTTHUMP00000222724;aldehyde dehydrogenase family 1 member L1;cytosolic 10-formyltetrahydrofolate dehydrogenase;formyltetrahydrofolate dehydrogenase APPROVED protein-coding ENSG00000144908 HGNC:3978 02594 600249 REVIEWED 1315525 ALDH1B1 aldehyde dehydrogenase 1 family, member B1 This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008] 9 9 9 p11.1 38325642 38331598 + 38392661 38398662 + 38392664 38398665 + 1580863;6480464;6907045;8554872 12477932;1306115;15164053;15231747;15489334;16196087;16344560;17314511;17471563;17628022;18029348;18782342;19343046;19738201;20205700;2061311;20700531;20734064;20877624;20955166;21139048;21145461;21216231;21890473;21988832;22268729;22863883;22939629;22990118;23247008;23454351;23667679;24816145;7774944;7779080;8125298;8244338;8689400 219 B4DLJ0;P30837 ABBA01050381;AI803741;AK225950;AK297020;AK313344;AL135785;AMYH02019510;BC001619;BE889810;BT007418;CH471071;DA599259;DB256700;M63967;NG_012253;NM_000692 AAA96830;AAH01619;AAP36086;ABM81675;ABW03290;BAG36147;BAG59552;EAW58252;NP_000683;P30837 Hs.436219;Hs.743532 1743169;1743173;1743175;1795344;1850838;2140030;2171303;5118576 ALDH1B1_1553;D11S3430;GDB:280628;GDB:280630;GDB:280632;SGC35531;STS-M63967;STS-R93551 ALDH5;ALDHX;MGC2230 ALDH class 2;OTTHUMP00000021399;acetaldehyde dehydrogenase 5;aldehyde dehydrogenase 5;aldehyde dehydrogenase X, mitochondrial;aldehyde dehydrogenase family 1 member B1;mitochondrial aldehyde dehydrogenase X APPROVED protein-coding ENSG00000137124 HGNC:407 00005 100670 REVIEWED 5688412 ALDH1L1-AS2 ALDH1L1 antisense RNA 2 3 3 q21.3 125898908 125929012 + 126180065 126210169 + 14702039;16344560;23378610;24324551 100862662 ABBA01016394;ABBA01016395;AC079848;AK097508;AMYH02007580;BC039521;DA256650;DA566603;NR_046383 Hs.633362 FLJ40189 APPROVED ncrna ENSG00000246022 HGNC:42446 VALIDATED 6481157 ALDH1L1-AS1 ALDH1L1 antisense RNA 1 3 3 125822483 125827139 + 126103640 126108069 + 100874204 ABBA01016395;AC079848;AMYH02007580;HG496022;NR_046602 Hs.742339 RP11-124N2.2 APPROVED ncrna ENSG00000250218 HGNC:40244 PREDICTED 69220 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011] 12 12 12 q24.2 111829810 111873247 + 112204691 112247789 + 111766887 111809985 + 734551;1599041;1599042;1331525;1300048;1601161;1601162;1601164;1601163;1580863;2311152;2325694;2325313;2311149;2311150;2311151;6480464;6907045;7240710;7241588;7241590;7241599;7241603;7241598;7241592;8554872;8699517 10780266;11510748;12452318;12484509;12706323;15118671;15126281;15318096;15563966;15714130;16408483;17058263;17388993;18787169;19068087;20957334;21138988;21166048;22022451;23468836 10631996;11051375;11115843;11117576;11210104;11238183;11375898;11410735;11410744;11468345;11520401;11584144;11600186;11692094;11696658;11744614;11748356;11767261;11798074;11925062;11966948;12010862;12033531;12080432;12082496;12089173;12119207;12164325;12168074;12170102;12173598;12189549;12198368;12198369;12211622;12213289;12223435;12351924;12376487;12387818;12419833;12477932;12492137;12505800;12517056;12519453;12545748;12554615;12563175;12705718;12706324;12718576;12718671;12739102;12759156;12759747;12766630;12777946;12795606;12798968;12806963;12824748;12884000;12915514;12915519;12940444;1306115;14506399;14506613;14568296;14597338;14634838;14636437;14652286;14691372;14693654;14742656;14768474;15008789;15084894;15122947;15123334;15167446;15182962;15220553;15242332;15279067;15318097;15318112;15327835;15377279;15489334;15511718;15519646;15542751;15569633;15654505;15679538;15703303;15734972;15780035;15840430;15842823;15863807;15902904;15957669;15957670;15983043;15991278;16006997;16046871;16078602;16082583;16103445;16108833;16125912;16126235;16127737;16135443;16163053;16169070;16187278;16235983;16250071;16309369;16324524;16332725;16351505;16365683;16385179;16404797;16440063;16440362;16499490;16520888;16565959;16600530;16608143;16624836;16639733;16679343;16679777;16685648;16702384;16734278;16758956;16759795;16782756;16788276;16792555;16822169;16847426;16958672;17033202;17036331;17040107;17071628;17134659;17138329;17196743;17207821;17285601;17292341;17384900;17454860;17459359;17471563;17489985;17517051;17543846;17559142;17631643;17632320;17659824;17785925;17850643;17854793;17885622;17948892;17952709;17963305;17984618;18033686;18056758;18078815;18201725;18215653;18216179;18254707;18258609;18272654;18299763;18302046;18317873;18318597;18322963;18331377;18336671;18429959;18439068;18450747;18510611;18516948;18540919;18616675;18621017;18665932;18676680;18715275;18724972;18763293;18772068;18773092;18776700;18782342;18786921;18787502;18798003;18974607;18996923;19056867;19064571;19096130;19115622;19124505;19144977;19164089;19170196;19182438;19185835;19230487;19250143;19251454;19261511;19262484;19286920;19298323;19298328;19302089;19332462;19336370;19339270;19343046;19393179;19403456;19449376;19452585;19456322;19469618;19486361;19506075;19584771;19618839;19625176;19637400;19641380;19655364;19667493;19692168;19698717;19706845;19751749;19769429;19799139;19819294;19826048;19860798;19861527;19874574;19876063;19906643;19911129;19913121;19914339;19948975;20005475;20010786;20025435;20042735;20062057;20077761;20093384;20100738;20101753;20139978;20180013;20180859;20186120;20205700;20364586;20381070;20403997;20417517;20437850;20467232;20477767;20477771;20488846;20518787;20521872;20541757;20562859;20577142;20590827;20598484;20628086;20632450;20652463;20685249;20700531;20731752;20806441;20833657;20877124;20877624;21039630;21070510;21085683;21114754;21133627;21139048;21145461;21157980;21252222;21270382;21309949;21321583;21355870;21372407;21437268;21476199;21507992;21515512;21536753;21572416;21576033;21601984;21664374;21672255;21723677;21820149;21832049;21848961;21861333;21906983;21917409;21946912;21958412;21971053;21988832;22004425;22102315;22144473;22155604;22155639;22171074;22180476;22231434;22279680;22286173;22287615;22292652;22302076;22455355;22507973;22508505;22551939;22563891;22564712;22591209;22703580;22708399;22797727;22839215;22870576;22879089;22909898;22930414;22931071;22954124;22960999;22988236;23041239;23106910;23111423;23149980;23238616;23247008;23266708;23295226;23296215;23303836;23323620;23354068;23364009;23364394;23447675;23454351;23455379;23525499;23550892;23609397;23615284;23667679;23685282;23685324;23697560;23909789;23969552;23986996;24028448;24037726;24058561;24262192;24277619;24292747;24333098;24334570;24382882;24690209;24734329;2562960;2838413;2987944;3017845;3562250;3582651;3610592;3653404;4015823;4065146;6582480;7593603;8125298;8290656;8561277;8889548;8903321;9195888;9309300;9765594 217 F8VSB0;P05091;S4R3S4 ABBA01019906;ABBA01019907;ABBA01019908;ABBA01019909;ABBA01019910;ABBA01019911;AC002996;AC003029;AF164120;AK223373;AK301375;AK314856;AMYH02027212;AY621070;BC002967;BC071839;CB851683;CH471054;CR456991;DC353712;HC250939;HC311128;K03001;M20444;M20456;M26760;M54931;NG_012250;NM_000690;NM_001204889;X05409;Y00109 AAA51693;AAA51694;AAA62825;AAB59500;AAD48447;AAH02967;AAH71839;AAT41621;ADZ15477;BAD97093;BAG62916;CAA28990;CAA68290;CAG33272;CBJ05767;CBJ21219;EAW97973;EAW97974;EAW97975;EAW97976;NP_000681;NP_001191818;P05091 Hs.604551 1691500;1694934;1710046;1741241;1745755;2147702;2217004 119668;ALDH2_2950;D12S1884;G44358;GDB:179565;GDB:636036;SHGC-82299 ALDH-E2;ALDM;MGC1806 ALDH class 2;ALDHI;OTTHUMP00000241661;OTTHUMP00000241662;OTTHUMP00000241663;OTTHUMP00000241665;acetaldehyde dehydrogenase 2;aldehyde dehydrogenase 2;aldehyde dehydrogenase, mitochondrial;liver mitochondrial ALDH;nucleus-encoded mitochondrial aldehyde dehydrogenase 2 APPROVED protein-coding ENSG00000111275 HGNC:404 00003 100650;610251 REVIEWED 1345617 ALDH1L2 aldehyde dehydrogenase 1 family, member L2 This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010] 12 12 12 q23.3 105078239 105142624 - 105413562 105478341 - 105019784 105084563 - 1580863;6480464;6907045;8554872 12477932;14702039;18029348;19933275;20186120;20379614;20498374;20877624;21238436;21789175;22082156;23382691 160428 B4DTU7;H0YHN9;Q3SY69 ABBA01053187;ABBA01053188;ABBA01053189;AC016257;AC090051;AF086109;AK094088;AK095827;AK300373;AMYH02027106;AMYH02027107;AMYH02027108;AMYH02027109;BC103934;BC103935;BX537599;CA418450;CR627287;CR749561;HQ292168;NG_012748;NM_001034173;NR_027752 AAI03935;AAI03936;ACE87788;ACT64437;BAC04634;BAG62109;CAH10368;CAH18358;NP_001029345;Q3SY69 Hs.42572 1338335;1682135;1690992;1721227;1746935;2156455;2163433;2187797;5020948;5094334 D1S1151;G35510;G54718;G59457;G64838;G69481;RH68920;RH77954;RH79585;RH92214 DKFZp686A16126;DKFZp686M064;DKFZp686P14145;FLJ36769;FLJ38508;MGC119536;MGC119537;mtFDH 10-formyltetrahydrofolate dehydrogenase ALDH1L2;OTTHUMP00000242225;aldehyde dehydrogenase family 1 member L2;aldehyde dehydrogenase family 1 member L2, mitochondrial;mitochondrial 10-FTHFDH;mitochondrial 10-formyltetrahydrofolate dehydrogenase;probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2 APPROVED protein-coding ENSG00000136010 HGNC:26777 18742 613584 REVIEWED 733180 ALDH3A1 aldehyde dehydrogenase 3 family, member A1 Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008] 17 17 17 p11.2 17054645 17065094 - 19641297 19651746 - 19737984 19748433 - 1300048;1580863;2300309;6480464;6907045 3949078 10780262;11256614;12081471;12367788;12477932;12706498;12943535;1306115;14702039;14745454;15489334;15905174;16344560;1737758;18496131;18536178;18621017;18854779;19025616;1905102;19058789;19343046;19360691;19696793;19894643;20056567;20102361;20237496;2037078;20379614;21044950;21203538;21229876;21251908;21988832;22406320;24276407;24550385;24762960;4073832;7228061;7625577;7774944;8125298;8493892;8889548;9027499;9250352;9514081;9855707 218 A8MYB8;C9JKT2;C9JMC5;E9PNN6;I3L1H6;I3L3I9;I3L3W9;I3L4E5;P30838;Q6PKA6 ABBA01054596;AC005722;AK091272;AK093755;AK093877;AK225505;AK225513;AK292193;AK314584;AMYH02033170;BC004102;BC004370;BC008892;BC021194;BM979497;BT007102;CH471212;CV575863;DA427150;DA445491;M74542;M77477;NG_012251;NM_000691;NM_001135167;NM_001135168;S61044;XM_005256522;XM_005256523;XM_005256524;XM_005256525;XM_006721473 AAA51696;AAB26658;AAB46377;AAH04102;AAH04370;AAH08892;AAH21194;AAP35766;ABM83914;BAC04239;BAF84882;BAG37160;BAG52758;EAW50908;EAW50909;NP_000682;NP_001128639;NP_001128640;P30838;XP_005256579;XP_005256580;XP_005256581;XP_005256582;XP_006721536 Hs.531682 2152655;2158146;5037552;5109281 D1S1425;D8S2279;RH11444;WI-9090 ALDH3;ALDHIII;MGC10406 OTTHUMP00000065794;OTTHUMP00000065795;OTTHUMP00000065796;OTTHUMP00000065797;aldehyde dehydrogenase isozyme 3;aldehyde dehydrogenase type III;aldehyde dehydrogenase, dimeric NADP-preferring;stomach aldehyde dehydrogenase APPROVED protein-coding ENSG00000108602 HGNC:405 00004 100660 REVIEWED 737085 ALDH3A2 aldehyde dehydrogenase 3 family, member A2 Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16965422 16994253 + 19552064 19580908 + 19648751 19677595 + 1300048;1580863;6480464;6907045;7240710;8554872;8699517 10577908;10792573;11408337;12477932;14702039;15110319;15241804;15489334;15931689;16794583;16996289;17342744;17510064;17902024;17971613;17998529;18035827;18519826;18781797;19343046;19615732;20237496;20305087;20360068;20677014;20877624;20883264;21139048;21145461;21524986;21684788;21872273;21890473;21906983;21963094;22397046;22412018;22633490;22678362;22797925;23034980;23956138;24255178;24501781;24654937;7485163;7894487;8528251;9027499;9070922;9133646;9204959;9254849;9467812;9829906 224 C9JGJ2;I3L0X1;I3L1M4;I3L2W1;I3L4G6;J3KTD9;J3KTG1;J3QKK9;J3QQV9;J3QRD1;J3QS00;K7EN73;P51648 AB208894;ABBA01054599;AC005722;AC115989;AK000858;AK025677;AK123877;AK292381;AK315096;AMYH02033169;BC002430;BG699030;CH471212;CR457422;CR749559;L47162;NG_007095;NM_000382;NM_001031806;U46689;U75286;U75295;U75296 AAB01003;AAC50965;AAC50966;AAC51121;AAH02430;ABM86806;ABW03828;BAD92131;BAF85070;BAG37560;CAG33703;CAH18356;EAW50898;EAW50899;EAW50900;NP_000373;NP_001026976;P51648 Hs.499886 1644778;1660408;1662966;1689833;1772869 AFMa126yd5;RH64993;RH66582;RH75646;SGC31627 ALDH10;DKFZp686E23276;FALDH;FLJ20851;SLS OTTHUMP00000065799;OTTHUMP00000065800;OTTHUMP00000065801;aldehyde dehydrogenase 10;aldehyde dehydrogenase family 3 member A2;aldehyde dehydrogenase family 3, subfamily a2;fatty aldehyde dehydrogenase;microsomal aldehyde dehydrogenase APPROVED protein-coding ENSG00000072210 HGNC:403 07188 270200;609523 REVIEWED 1318187 ALDH3B2 aldehyde dehydrogenase 3 family, member B2 This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. The expression of these transcripts is restricted to the salivary gland among the human tissues examined. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 11 11 11 q13 64764391 64781968 - 67429633 67448685 - 67662162 67681214 - 1580863;6480464;6907045;8554872 10737800;12477932;14702039;15342556;15489334;19343046;20237496;21906983;21963094;21987572;23000965;7484374;8890755;9161417 222 E9PJV0;E9PKY9;H0YEC0;P48448 ABBA01024026;AK092464;AK299956;AK309277;AMYH02024997;AP003385;BC007685;BG009508;BP313753;BT006810;CH471076;NG_012255;NM_000695;NM_001031615 AAH07685;AAP35456;ABM84628;ABM92158;BAC03897;BAG61783;EAW74665;NP_000686;NP_001026786;P48448 Hs.87539 1694512;1795346;2125148;2148910 ALDH3B2_420;RH121969;RH18048;RH47695 ALDH8 OTTHUMP00000235616;acetaldehyde dehydrogenase 8;aldehyde dehydrogenase 8;aldehyde dehydrogenase family 3 member B2 APPROVED protein-coding ENSG00000132746 HGNC:411 03559 601917 REVIEWED 1346272 ALDH4A1 aldehyde dehydrogenase 4 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009] 1 1 1 p36 17525220 17556609 - 19197924 19229293 - 18871430 18902799 - 1580863;6480464;6907045;7240710;8554872;8699517 12477932;1286669;14679154;14986171;15489334;16341674;16710414;19898482;20453000;20877624;21832049;21890473;21988832;22516612;23568457;23825041;24502590;24583282;24816145;4851275;500817;8125298;8621661;9700195 8659 P30038;Q5TF55 ABBA01059748;ABBA01059749;AK222486;AK289972;AK294552;AL080251;AL954340;AMYH02000416;BC007581;BC023600;BM856369;BX537160;BX649081;CH471134;DC318624;FJ462711;NG_012283;NM_001161504;NM_003748;NM_170726;U24266;U24267 AAC50500;AAC50501;AAH07581;AAH23600;ABM84431;ABM87488;ACN89883;BAD96206;BAF82661;BAG57755;EAW94858;EAW94859;EAW94860;NP_001154976;NP_003739;NP_733844;P30038 Hs.77448 1688815;1766509;1795348;1847477;2161990;2174390 ALDH4A1_1756;D1S3604;RH80741;SHGC-149828;SHGC-74303;SHGC-74312 ALDH4;DKFZp779M035;P5CD;P5CDh L-glutamate gamma-semialdehyde dehydrogenase;OTTHUMP00000002544;OTTHUMP00000002545;P5C dehydrogenase;aldehyde dehydrogenase family 4 member A1;delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial;mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase APPROVED protein-coding ENSG00000159423 HGNC:406 06009 239510;606811 REVIEWED 1349903 ALDH3B1 aldehyde dehydrogenase 3 family, member B1 This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 11 11 11 q13 65109718 65130415 + 67776048 67796743 + 68008578 68029276 + 1580863;6480464;6907045;8554872 12477932;14702039;15489334;16092759;17382292;19056867;19159868;19190083;19343046;20237496;20699116;20729348;21139048;21890473;21906983;21963094;21987572;23000965;23438482;23721920;23824909;7828891;9161417;9490025 221 P43353;Q9BUJ8;S4R374 AB209651;ABBA01024019;ABBA01024020;AC004923;AK092029;AK291505;AMYH02025001;BC002553;BC013584;BC014168;BC019911;BC033099;BM561843;BT009832;CD014083;CD014084;CH471076;CK299957;DA624671;DA630186;EF411198;KF459677;KF573694;KF573695;NG_012282;NM_000694;NM_001030010;NM_001161473;NM_001290058;NM_001290059;U10868;X75688 AAA83428;AAH02553;AAH13584;AAH14168;AAH33099;AAP88834;ABM82378;ABM85557;ABN58743;BAD92888;BAF84194;EAW74678;EAW74679;EAW74680;EAW74681;EAW74682;EAW74683;NP_000685;NP_001025181;NP_001154945;NP_001276987;NP_001276988;P43353 Hs.523841 1851260;2143246;2145217;5015619;5037552 D11S2423;D11S3114;D8S2279;RH69713;STS-AA026629 ALDH4;ALDH7;FLJ26433;FLJ34710 aldehyde dehydrogenase 3B1;aldehyde dehydrogenase 7;aldehyde dehydrogenase family 3 member B1 APPROVED protein-coding ENSG00000006534 HGNC:410 02716 600466 REVIEWED 1344188 ALDH6A1 aldehyde dehydrogenase 6 family, member A1 This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 14 14 14 q24.3 54563821 54588152 - 74524365 74551196 - 74057662 74084493 - 633220;1580863;6480464;6907045;7240710 1527093 10947204;12477932;14718574;15489334;15909363;18029348;19343046;20379614;20585627;20877624;21863277;21988832;24816145;8125298 4329 G3V4Z4;Q02252 ABBA01030732;ABBA01030733;ABBA01030734;AC005484;AF038011;AF148505;AF148855;AF159889;AI244036;AJ249994;AK222687;AK223244;AK294243;AK311478;AK312389;AMYH02029507;AMYH02029508;AMYH02029509;AW418653;BC004909;BC032371;CH471061;M93405;NG_012257;NM_001278593;NM_001278594;NM_005589 AAA36328;AAB92620;AAF04489;AAF80380;AAG29581;AAH04909;AAH32371;ABM83847;ABM84606;ABW03530;BAD96407;BAD96964;BAG35306;BAG57539;CAB76468;EAW81158;EAW81159;EAW81160;NP_001265522;NP_001265523;NP_005580;Q02252 Hs.293970;Hs.744472 1652525;1675724;1688963;2110249;2150696;5124539 ALDH6A1_3184;RH69632;RH92479;RH98826;SHGC-54582;STS-R00273 MGC40271;MMSDH MMSADHA;OTTHUMP00000245431;OTTHUMP00000245432;aldehyde dehydrogenase family 6 member A1;malonate-semialdehyde dehydrogenase;methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial;mitochondrial acylating methylmalonate-semialdehyde dehydrogenase APPROVED protein-coding ENSG00000119711 HGNC:7179 04416 603178;614105 REVIEWED 1345188 ALDH7A1P2 aldehyde dehydrogenase 7 family, member A1 pseudogene 2 2 2 q31.1 173758491 173759111 - 172893763 172894383 - 9417906 542 ABBA01020743;AC009484;AMYH02005245;NG_023632 ATQL2 APPROVED pseudo HGNC:879 VALIDATED 1353754 ALDH7A1P3 aldehyde dehydrogenase 7 family, member A1 pseudogene 3 7 7 7 q36 144795796 144796319 - 150238720 150239243 - 150541632 150542155 - 9417906 543 ABBA01035185;AC069304;AF002694;AMYH02017059;NG_001083 ATQL3 APPROVED pseudo HGNC:880 INFERRED 735245 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p22 25728607 25770806 + 24495197 24537435 + 24494969 24537207 + 632258;1580863;6480464;6907045;7240710;8554872;8699517 7814412 11243727;11901270;12208142;12477932;12629812;14574404;14635103;14981524;15037717;15489334;15642443;16199352;16406321;16786440;17457693;17913586;18029348;18457437;18505418;19086053;19300440;19343046;19667317;20201926;20301374;20363598;20379614;20445195;20659789;20877624;21438145;22001757;22437753;22939629;23516105;23825041;23926001;24327614;24722188;6470007;9059628;9683595 7915 C9J8Q5;P51649;X5D299;X5DQN2 ABBA01066536;AJ427353;AJ427354;AJ427355;AK025722;AK290800;AK294699;AK314357;AK315380;AL031230;AMYH02013326;AMYH02013327;BC034321;CH471087;KJ534766;KJ534767;KJ534768;KJ534769;L34820;NG_008161;NM_001080;NM_170740;X92753;Y11192 AAA67057;AAH34321;ABM82597;ABM85783;AHW56406;AHW56407;AHW56408;AHW56409;BAF83489;BAG37773;BAG57857;CAA72076;CAD20882;CAD20883;CAD20884;EAW55452;EAW55453;EAW55454;NP_001071;NP_733936;P51649 Hs.371723 1651887;1653988;1666351;1792858;1795350;5014051;5022651;5037552 ALDH5A1_295;D11S2921;D8S2278;D8S2279;PMC166143P14;RH48155;STS-D25573;WI-11539 SSADH;SSDH NAD(+)-dependent succinic semialdehyde dehydrogenase;OTTHUMP00000016088;OTTHUMP00000214393;OTTHUMP00000214394;aldehyde dehydrogenase 5 family member A1;aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase);aldehyde dehydrogenase family 5 member A1;aldehyde dehydrogenase family 5, subfamily a1;mitochondrial succinate semialdehyde dehydrogenase;succinate-semialdehyde dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000112294 HGNC:408 08361 271980;610045 REVIEWED 1318489 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011] 5 5 5 q31 1067 2865 - 125877533 125931104 - 126541841 126595390 - 1580863;6480464;6907045;7240710;8554872;8699517 10978228;12477932;12766061;14702039;15489334;16159904;16169070;16344560;16491085;17068770;17088338;17433748;17721876;18029348;18717709;18854520;19128417;19142996;19294602;19885858;20072603;20207735;20301659;20512086;20562859;20639122;20814824;20877624;21139048;21185811;21338592;21647815;21832049;21890473;21988832;22249334;22305855;22784480;22863883;23054014;23376216;23647301;23683770;24122892;24654937;24664145;8088832;9417906 501 F8VS02;F8VVF2;F8WD33;F8WDY6;H0YHM6;P49419 ABBA01068902;ABBA01068903;ABBA01068904;AC093535;AC099513;AF002696;AI039375;AK021800;AK092507;AK123774;AK295526;AK297365;AK312459;AMYH02012138;AMYH02012139;AU135961;BC002515;BC071712;BC073174;BG680326;BU153725;CD678674;CH471086;DB501575;DC375277;NG_008600;NM_001182;NM_001201377;NM_001202404;S74728 AAB31966;AAC51935;AAH02515;AAH71712;AAH73174;ACE86594;ACE87275;BAG35366;BAG58439;BAG59812;EAW48851;NP_001173;NP_001188306;NP_001189333;P49419 Hs.483239 1339760;1340256;1661133;1664391;1669199;2124327;2140109;2144152;2149256;2155264;2186912;5022651;5109362 AFMa128xh5;D11S2921;D17S1239;D5S1933;D5S1972;D5S2017;D5S2464;D5S2596;D5S2646;RH47147;RH65314;RH78357;SGC30136 ATQ1;EPD;FLJ11738;FLJ92814;PDE 26g turgor protein homolog;OTTHUMP00000159189;OTTHUMP00000242046;P6c dehydrogenase;aldehyde dehydrogenase family 7 member A1;alpha-AASA dehydrogenase;alpha-aminoadipic semialdehyde dehydrogenase;antiquitin 1;antiquitin-1;betaine aldehyde dehydrogenase;delta1-piperideine-6-carboxylate dehydrogenase;delta1-piperideine-6-carboxylate dehydrogenease APPROVED protein-coding ENSG00000164904 HGNC:877 00124 107323;266100 REVIEWED 1350929 ALDH7A1P4 aldehyde dehydrogenase 7 family, member A1 pseudogene 4 10 10 10 q21 57768131 57768580 - 64500750 64501154 - 62740990 62741394 - 22747683;9417906 544 ABBA01019491;AC067751;AF002695;AMYH02023195;NG_001084 ATQL4 APPROVED pseudo HGNC:881 INFERRED 1352783 ALDH7A1P1 aldehyde dehydrogenase 7 family, member A1 pseudogene 1 5 5 5 q14 72480239 72482049 + 76586009 76587819 + 77290184 77291994 + 16004729;9417906 541 ABBA01061980;AC022414;AF002693;AMYH02011615;NG_001082;NG_023364 2140109;2144152;2155264 D5S2464;D5S2596;RH47147 ATQL1 antiquitin-like 1 pseudo HGNC:878 INFERRED 735815 ALDOA aldolase A, fructose-bisphosphate The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Aug 2011] 16 16 16 p11.2 72713985 72731229 - 30064411 30081741 + 30053190 30063861 + 1599054;1599061;1300048;1580863;2302796;2325696;6480464;6484113;6907045;7240710;8554872;8699517 10395295;16930621;19077459;5251864 10048322;1008835;10369770;11287212;11399750;11876650;12477932;12519789;12601813;12665801;1353685;14499622;14615364;14669989;14760703;14766013;15231747;15489334;15592455;15952740;15967462;16009940;1602151;16027165;16097034;16196087;16236267;16263121;16289162;16335966;16344560;16712791;16916647;17081983;17329259;17641064;18029348;18214967;18278581;18328256;18781797;19135240;19242545;19338310;19471022;19615732;19738201;19741270;19946888;1999195;20000738;20029029;20181627;20362419;20381070;20511553;2056525;20639865;2065091;20706999;20849852;21044950;21078624;21081666;21139048;21145461;21307348;21319273;21555518;21565611;21853274;21890473;21906983;21963094;21987572;21988832;22053931;22079093;22108332;2229018;22304920;22505724;22536838;22623428;22623531;22863883;22939629;22944692;22949271;22990118;22996014;23000965;23077236;23349634;2335208;23874603;23886627;24030972;24250222;24457600;24561123;24583282;24816145;25015289;25027693;2825199;3030757;3046960;3355497;3391172;3441006;3570299;3674018;3840020;6406231;6696436;766744;7821789;8103323;844801;8598869;9244396;955981 226 H3BMQ8;H3BPS8;H3BQN4;H3BR04;H3BR68;H3BU78;H3BUH7;H3BUK5;J3KPS3;P04075;V9HWN7 ABBA01013105;ABBA01013106;AC093512;AC243947;AK026577;AK098778;AK301993;AK308495;AK308748;BC000367;BC004333;BC010660;BC012880;BC013614;BC015888;BC016170;BC016800;BE893518;BQ719865;BU855133;BX647566;CB151262;CH471238;CR536528;CR541880;D28356;DA138954;DA564075;DA893541;DA899482;DB057572;EF036496;EF036497;FJ474908;M11560;M21190;NG_008010;NM_000034;NM_001127617;NM_001243177;NM_184041;NM_184043;X05236;X06352;X12447;XM_006721109 AAA51690;AAA51697;AAH00367;AAH04333;AAH10660;AAH12880;AAH13614;AAH15888;AAH16170;AAH16800;ABM81991;ABM85172;ABO65082;ABO65083;ACQ91105;BAA05722;BAG63399;CAA28861;CAA29654;CAA30979;CAG38765;CAG46678;EAW79933;EAW79934;EAW79935;EAW79936;NP_000025;NP_001121089;NP_001230106;NP_908930;NP_908932;P04075;XP_006721172 Hs.513490;Hs.732822 1679840;1680200;1684618;1685077;1735996;1736544;1744329;1769875 D10S1286E;D10S2367;D16S2545E;GDB:451697;RH47250;RH67859;RH80798;hsaldoa ALDA;GSD12;HEL-S-87p;MGC10942;MGC17716;MGC17767 OTTHUMP00000162983;OTTHUMP00000162984;aldolase a;epididymis secretory sperm binding protein Li 87p;fructose-1,6-bisphosphate triosephosphate-lyase;fructose-bisphosphate aldolase A;lung cancer antigen NY-LU-1;muscle-type aldolase APPROVED protein-coding ENSG00000149925 HGNC:414 00070 103850;611881 REVIEWED 1345484 ALDOAP2 aldolase A, fructose-bisphosphate pseudogene 2 10 10 10 q26.13 121130663 121132039 - 127355249 127356625 - 125666680 125668056 - 2828224;3674018 228 ABBA01034168;AL158835;AMYH02023994;M21191;NG_005637 Hs.652473 1735996;5017689 ALDOA;D10S1286E pseudo HGNC:416 INFERRED 1343915 ALDRL2 aldehyde reductase (aldose reductase)-like 2 8244370 233 HGNC:421 1319646 ALDH8A1 aldehyde dehydrogenase 8 family, member A1 This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Three transcript variants encoding distinct protein isoforms have been identified for this gene. [provided by RefSeq, Jul 2010] 6 6 6 q23.2 135978855 136011613 - 135238528 135271260 - 134917390 134950122 - 1580863;6480464;8554872 11007799;12477932;16344560;19056867;19343046;21832049;22082156;23870195;8125298 64577 E9PKV1;H0YF40;Q9H2A2 ABBA01025846;ABBA01025847;ABBA01025848;AF303134;AK074266;AK222848;AK290784;AK298325;AL021939;AL445190;AMYH02014542;BC020849;BC113862;BC114473;BF590409;BX647324;CH471051;DA635162;NG_012261;NM_001193480;NM_022568;NM_170771;XM_006715551 AAG42417;AAI13863;AAI14474;BAD96568;BAF83473;BAH12757;EAW47985;EAW47986;NP_001180409;NP_072090;NP_739577;Q9H2A2;XP_006715614 Hs.486520 1665743;1795352;2181511 ALDH8A1_1599;STS-N70701;STS-R89092 ALDH12;DJ352A20.2;DKFZp779D2315;MGC138650 OTTHUMP00000017250;OTTHUMP00000017251;OTTHUMP00000234165;aldehyde dehydogenase 8 family, member A1;aldehyde dehydrogenase 12;aldehyde dehydrogenase family 8 member A1;aldehyde dehydrogenase family protein APPROVED protein-coding ENSG00000118514 HGNC:15471 06974 606467 REVIEWED 737371 ALDOB aldolase B, fructose-bisphosphate Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008] 9 9 9 q21.3-q22.2 74696447 74711667 - 104182842 104198062 - 101420560 101435780 - 1300369;1599063;1580863;2313432;2313434;2313440;2313414;1599639;2313429;2302804;2302796;2313437;6480464;6484113;6907045;7240710;8554872;8699517 11904435;12646233;15532022;16127739;19106228;2984252;5251864;8096362;8255543;8264573;8403244 10024431;10625657;10970798;11241348;11399750;11679716;11752456;12205126;12417303;12464284;12477932;14966907;15063762;15880727;16406649;17292585;17457694;17576770;17955389;18000879;18029348;18541450;18700007;1967768;19817957;20033295;20162364;20848650;20882353;21166391;21832049;21890473;21963094;21987572;21988832;22001757;22505724;22911800;2336380;2410860;2649152;2830249;3000275;3016456;3383242;6548561;6585824;6689266;7717389;8162030;8299883;8535439;9244396 229 P05062;Q5T7D5 ABBA01042874;AK026411;AK290795;AL353621;AMYH02021354;AV645373;AV656265;AW242415;BC029399;BG616536;CH471105;D00183;M15656;NG_012387;NM_000035;X00270;X01098;X02747 AAA51691;AAH29399;BAA00125;BAF83484;CAA25072;CAA25572;CAA26526;EAW58951;EAW58952;NP_000026;P05062 Hs.530274 1668366;1681185;1694892;1699394;1712182;1722427;1741583;1741629;1742007;1742607;1743841;2143814;2170464;2179683;2181332;5111296;5491934 ALDOB-1;D9S1710;D9S2043;G31116;G44329;G54142;G60287;GDB:181545;GDB:181596;GDB:188697;GDB:198061;GDB:374776;RH103288;RH11595;RH46544;RH80895;STS-T50700 ALDB;ALDO2 OTTHUMP00000021803;OTTHUMP00000021804;aldolase 2;aldolase B, fructose-bisphosphatase;fructose-bisphosphate aldolase B;liver-type aldolase APPROVED protein-coding ENSG00000136872 HGNC:417 01972 229600;612724 REVIEWED 1344311 ALFN1 activator of liver function 1 (hepatic phenotype restoration inducing sequence) 7940018 237 X15584 HGNC:426 1343752 ALDOAP1 aldolase A, fructose-bisphosphate pseudogene 1 3 3 3 p21.2 52206379 52208324 + 52227061 52229007 + 52193045 52194991 + 23974872;3674018 391538 ABBA01024511;AC006252;AC097637;AMYH02006798;NG_004867 1684618;1744329;5017689 ALDOA;GDB:451697;RH47250 pseudo HGNC:415 INFERRED 69125 ALDOC aldolase C, fructose-bisphosphate This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008] 17 17 17 cen-q12 23759160 23762978 - 26900133 26904282 - 28573115 28577264 - 734555;1300048;1580863;2301132;2301133;2301134;2301136;6480464;6907045 16356555;17053973;17182680;3105602;3830170 11399750;11876650;12477932;15489334;15537755;15589842;16196087;16916647;17500595;19034380;19056867;19110265;19405953;19686046;20381070;21139048;21145461;21890473;21906983;21963094;21987572;21988832;22053931;2209624;22505724;22797925;22863883;22939629;23000965;23824909;23874603;24163370;24816145;2731939;3267224;3674018;5230152;8619474;9110174;9244396 230 A8MVZ9;C9J8F3;J3KSV6;J3QKK1;J3QKP5;K7EKH5;P09972 ABBA01015052;AC005726;AF054987;AK293453;AK293623;AK293693;AK294091;AK294157;AK296039;AK296053;AK312281;AMYH02033223;BC003613;BC065565;BC103760;BC106925;BC106926;BF345067;BT007006;CH471159;CR541862;CR541881;HI574194;NM_005165;X05196;X07292;XM_005257947;XM_005257949 AAC09348;AAH03613;AAH65565;AAI03761;AAI06926;AAI06927;AAP35652;BAG35210;BAH11512;BAH11551;BAH11572;BAH11668;BAH11685;BAH12243;BAH12245;CAA28825;CAA30270;CAG46660;CAG46679;CBX47586;EAW51104;EAW51105;NP_005156;P09972;XP_005258004;XP_005258006 Hs.155247 1663727;1698818;2107827 ALDOC_8198;G21480;RH102973 ALDC OTTHUMP00000163435;OTTHUMP00000163436;OTTHUMP00000163437;aldolase 3;aldolase c, fructose-biphosphate;brain-type aldolase;fructoaldolase C;fructose-1,6-biphosphate triosephosphate lyase;fructose-bisphosphate aldolase C APPROVED protein-coding ENSG00000109107 HGNC:418 02386 103870 REVIEWED 1321758 ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008] 16 16 16 p13.3 5331197 5346774 + 5121810 5137380 + 5071809 5087379 + 6480464;6907045;7240710;8554872;8699517 10704531;12477932;12975309;14709599;14973778;14973782;15489334;16303743;16341674;16344560;19946888;20301507;20379614;20679665;21139048;21890473;21963094;21987572;22268729;22359512;22678362;22966035;23824909;24157261 56052 B4DP08;K7EID2;K7EPU3;K7EQK1;Q9BT22 AA810665;AB019038;ABBA01026798;ABBA01026799;AC026458;AK075373;AK298144;AK311475;AMYH02031332;AY359073;BC004402;BC031095;BC031873;BM767933;BQ002699;CA455103;CD366777;CH471112;CS051167;DA879477;NG_009202;NM_019109;XM_005255431 AAH04402;AAH31095;AAQ89432;ABM85936;ABW03760;BAA90748;BAC11576;BAG60420;CAI72079;EAW85240;EAW85241;NP_061982;Q9BT22;XP_005255488 Hs.592086 5112137 a06503sbk CDG1K;HMAT1;HMT-1;HMT1;MT-1;Mat-1;hMat-1 GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase;GDP-mannose-dolichol diphosphochitobiose mannosyltransferase;OTTHUMP00000159923;asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase);asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase);asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog;asparagine-linked glycosylation protein 1 homolog;beta-1,4 mannosyltransferase;beta-1,4-mannosyltransferase;chitobiosyldiphosphodolichol beta-mannosyltransferase;mannosyltransferase-1 APPROVED protein-coding HGNC:18294 10437 605907;608540 REVIEWED 68603 ALDH9A1 aldehyde dehydrogenase 9 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 138736605 138773321 - 165631449 165667900 - 165662212 165698663 - 1300048;1580863;6480464;6907045 10702312;11790142;12477932;15893726;16710414;18029348;18334916;19056867;19064610;19343046;19536175;19615732;20379614;20562859;20639865;20877624;21139048;21145461;21890473;21906983;21963094;22505724;22863883;22990118;23000965;24816145;25015289;2925663;8112751;8269919;8645224;8786138;9417993 223 B4DX14;B9EKV4;P49189 ABBA01047280;AF172093;AK293520;AK301767;AK302183;AK302191;AK302654;AK312751;AL451074;AMYH02002065;BC011410;BC070030;BC151140;BC151141;CH471067;NG_012256;NM_000696;U34252;U50203;X75425 AAB06721;AAB18827;AAF43600;AAI51141;AAI51142;BAG35618;BAG57002;BAG63226;BAG63549;BAG63554;BAG63893;CAA53176;EAW90758;NP_000687;P49189 Hs.2533 1654374;1768091;1797274;2133900 ALDH9A1_701.2;D1S3343;WI-12686;WI-9287 ALDH4;ALDH7;ALDH9;E3 4-trimethylaminobutyraldehyde dehydrogenase;OTTHUMP00000032604;R-aminobutyraldehyde dehydrogenase;TMABADH;aldehyde dehydrogenase (NAD+);aldehyde dehydrogenase E3 isozyme;aldehyde dehydrogenase family 9 member A1;gamma-aminobutyraldehyde dehydrogenase APPROVED protein-coding ENSG00000143149 HGNC:412 04109 602733 REVIEWED 1351399 ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q23 111403980 111483384 + 110924346 111003877 + 111681047 111760649 + 6480464;8699517;7240710;8554872 11181995;12477932;14702039;15342556;15489334;15772651;16100110;16341674;16344560;16713569;17686769;20301507;21890473;22797925;2283726;2341393;24255178;24722188;2649653;7505766;8125298;8218172 79868 D6RD27;D6RE84;Q9NP73;X6RD70 ABBA01043257;ABBA01043258;ABBA01043259;ABBA01043260;ABBA01043261;ABBA01043262;AF220051;AK026671;AK056347;AK223154;AK300394;AK302729;AK302890;AK304712;AK311608;AK312229;AK316306;AK316522;AL049563;AL096764;AL524204;AMYH02040238;AMYH02040239;BC005336;BC117377;BC117379;BE747995;BF239206;BF240663;BF699152;BG621042;BM759764;BP344481;BQ007420;BQ015240;CB268871;CH471120;DA830058;DB292609;DB516751;DC400909;DN992019;NG_016238;NM_001039210;NM_001099922;NM_001168385;NM_001257230;NM_001257231;NM_001257234;NM_001257235;NM_001257237;NM_001257239;NM_001257240;NM_001257241;NM_018466;NR_033125;XM_005262191;XM_006724693;XM_006724694;XM_006724695;XM_006724696;XM_006724697;XM_006724698;XM_006724699;XM_006724700;XM_006724701;XM_006724702;XM_006724703;XM_006724704 AAF67644;AAH05336;AAI17378;AAI17380;BAB15521;BAD96874;BAG35162;BAH13276;BAH13790;BAH13833;BAH14244;BAH14677;BAH14893;EAX02634;EAX02635;EAX02636;EAX02637;NP_001034299;NP_001093392;NP_001161857;NP_001244159;NP_001244160;NP_001244163;NP_001244164;NP_001244166;NP_001244168;NP_001244169;NP_001244170;NP_060936;Q9NP73;XP_005262248;XP_006724756;XP_006724757;XP_006724758;XP_006724759;XP_006724760;XP_006724761;XP_006724762;XP_006724763;XP_006724764;XP_006724765;XP_006724766;XP_006724767 Hs.443061 CDG1S;CXorf45;FLJ23018;GLT28D1;MDS031;TDRD13;YGL047W N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase;UDP-N-acetylglucosamine transferase subunit ALG13 homolog;asparagine-linked glycosylation 13 homolog;chromosome X open reading frame 45;glycosyltransferase 28 domain-containing protein 1;hematopoietic stem/progenitor cells protein MDS031;putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13;tudor domain containing 13 APPROVED protein-coding ENSG00000101901 HGNC:30881 06542 300776;300884 REVIEWED 1312492 ALG12 ALG12, alpha-1,6-mannosyltransferase This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34218131 34233386 - 50296852 50312106 - 49903204 49918458 - 6480464;6907045;7240710;8554872 10591208;11983712;12093361;12217961;12477932;12736397;15272470;15273506;15461802;15489334;15498874;19946888;20301507;21963094;21988832;24250222 79087 H7C4I6;H7C5R7;Q9BV10 ABBA01031320;AF258571;AF318343;AJ290427;AJ303120;AL671710;AMYH02038589;BC001729;BC098562;BM145575;CB858085;CH471138;CR456369;NG_008927;NM_024105 AAG23774;AAH01729;AAH98562;AAL55850;ABM83756;ABM87075;CAC67488;CAC83681;CAG30255;CAK54650;CAK54949;EAW73480;EAW73481;EAW73482;NP_077010;Q9BV10 Hs.526711 1657410;1684562;1686438;1758453 D22S972E;RH80254;SHGC-148387;SHGC-36778 CDG1G;ECM39;MGC111358;MGC3136;PP14673;hALG12 OTTHUMP00000196969;asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase);asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase);asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog;asparagine-linked glycosylation protein 12 homolog;dol-P-Man dependent alpha-1,6-mannosyltransferase;dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase;dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase;dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase;dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase;mannosyltransferase ALG12 homolog;membrane protein SB87 APPROVED protein-coding HGNC:19358 06189 607143;607144 REVIEWED 1348986 ALG13 asparagine-linked glycosylation 13 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cellular protein metabolic process (inferred); dolichol-linked oligosaccharide biosynthetic process (inferred); lipid glycosylation (inferred); PARTICIPATES IN N-linked glycan biosynthetic pathway; ASSOCIATED WITH CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is (inferred); FOUND IN endoplasmic reticulum membrane (inferred) q23 737633;1580863;6907045;7240710 12477932 15489334;15772651;16100110;2283726;2341393;2649653;8218172 55849 D6RD27;D6RE84;X6RD70 AF220051;AL096764;BC005336;CH471120;CR604429;NM_018466 AAF67644;AAH05336;EAX02634;EAX02635;EAX02636;EAX02637;NP_060936;Q9NP73 Hs.659791 1678723;1694094;1702312;1702418;1716793;1851404;2174442 AL035135;DXS7012E;RH121691;RH93842;SHGC-16527;UniSTS:99323;WI-14094 CXorf45;GLT28D1;MDS031;YGL047W protein-coding HGNC:30881 06635 300776;300884 1344377 ALG10B ALG10B, alpha-1,2-glucosyltransferase ENCODES a protein that exhibits transferase activity, transferring hexosyl groups (inferred); INVOLVED IN cellular protein metabolic process (inferred); dolichol-linked oligosaccharide biosynthetic process (inferred); metabolic process (inferred); PARTICIPATES IN N-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH calcitriol; ethyl methanesulfonate; methyl methanesulfonate 12 12 12 q12 37514920 37527825 + 38710557 38723528 + 38316741 38329726 + 6480464;6907045;8554872 12477932;14525949;14702039;15280551;16344560;19483685;20950623;21890473;21906983 144245 F8VWA9;F8VXJ0;Q5I7T1 ABBA01049520;ABBA01049521;AC117372;AK123102;AK307955;AMYH02026324;AY845858;BC137413;BC137414;BC144617;BQ024224;CH471111;DB224774;DB254106;NM_001013620;XM_005268665;XM_006719243 AAI37414;AAI37415;AAW31756;EAW57795;NP_001013642;Q5I7T1;XP_005268722;XP_006719306 Hs.259305 1694724;5024545 D1S3695;G43553 ALG10;KCR1 OTTHUMP00000240708;alpha-1,2-glucosyltransferase ALG10-A;alpha-2-glucosyltransferase ALG10-B;asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase);asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B;asparagine-linked glycosylation protein 10 homolog B;dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase;modifier of the HERG potassium channel;potassium channel regulator 1;putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase;putative alpha-1,2-glucosyltransferase ALG10-B APPROVED protein-coding ENSG00000175548 HGNC:31088 11923 VALIDATED 1345350 ALG10 ALG10, alpha-1,2-glucosyltransferase This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010] 12 12 12 p11.1 13983778 13989799 + 34175216 34181237 + 34022281 34028302 + 6480464;6907045;7240710;8554872 12200473;12477932;14525949;14702039;15489334;17903297;19204726;20301308;21139048;21890473;21906983;9597543;9722534 84920 F5GZZ6;F5H5T2;Q5BKT4 ABBA01031684;AC046130;AJ312278;AK027657;AK292488;AMYH02026318;BC022336;BC033730;BC070347;BC075807;BC090948;CH471116;NG_016389;NM_032834;W05355;XM_006719157;XM_006719158 AAH70347;AAH90948;ABM82982;ABM86176;BAB55272;BAF85177;CAC41349;EAW88508;NP_116223;Q5BKT4;XP_006719220;XP_006719221 Hs.102971 1680715 RH47812 ALG10A;DIE2;FLJ14751;KCR1 OTTHUMP00000240685;alpha-1,2-glucosyltransferase ALG10-A;alpha-2-glucosyltransferase ALG10-A;alpha2-glucosyltransferase;asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase);asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog;asparagine-linked glycosylation protein 10 homolog A;derepression of ITR1 expression 2 homolog;dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase;dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase;potassium channel regulator 1 APPROVED protein-coding ENSG00000139133 HGNC:23162 603313;613688 REVIEWED 6903415 ALG1L14P asparagine-linked glycosylation 1-like 14, pseudogene 4 4 9167906 9172244 - 9166406 9170298 - 100996649 AC108519 pseudo HGNC:44383 MODEL 1604899 ALG11 ALG11, alpha-1,2-mannosyltransferase This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010] 13 13 13 q14.2 33635189 33652418 + 52586523 52603784 + 52012387 52029648 + 6480464;6907045;7240710;8554872;8699517 12477932;15342556;16354793;17353931;19946888;20080937;20301507;21139048;22213132 440138 Q2TAA5;Q5TAP0 ABBA01051053;ABBA01051054;AK025456;AK128503;AK296747;AL139082;AL162377;AMYH02028040;BC010857;BC073862;BC108677;BC111022;BC142998;BP373026;DC366525;HH961780;NG_028038;NM_001004127;NR_036571 AAH10857;AAH73862;AAI11023;AAI42999;AAI43060;AAI50317;BAG59331;CBX51363;NP_001004127;Q2TAA5 Hs.512963;Hs.732220 1648904;1700368;2114518;2124859;2130738 RH103804;SHGC-3226;SHGC-8883;STS-R36092;WI-13764 CDG1P;GT8;KIAA0266;UTP14C GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;OTTHUMP00000018446;UTP14, U3 small nucleolar ribonucleoprotein, homolog C;asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog;asparagine-linked glycosylation protein 11 homolog;glycolipid 2-alpha-mannosyltransferase APPROVED protein-coding ENSG00000253710 HGNC:32456 11265 613661;613666 REVIEWED 6903417 ALG1L3P asparagine-linked glycosylation 1-like 3, pseudogene 4 4 4 p16.1 10184705 10195353 - 9704468 9712436 - 9702844 9710812 - 9847074 100132066 ABBA01032504;ABBA01032505;AC098976;AC105916;AMYH02008741;NG_008784 1802842;2020044 ECD02309;REN80978 pseudo HGNC:44372 INFERRED 6903413 ALG1L12P asparagine-linked glycosylation 1-like 12, pseudogene 8 8 12278528 12283783 + 12421019 12426274 + 100421097 AC087203;AC243920;NG_026086 pseudo HGNC:44381 INFERRED 1605265 ALG1L ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 3 3 3 q21.2 124067856 124075639 - 125647459 125709383 - 125928840 125937044 - 6480464 12477932;21963094 200810 Q6GMV1 ABBA01016401;AC092903;AMYH02007580;BC073816;BI085096;CD685738;CH471052;NM_001015050;NM_001195223;XM_005247201;XM_006713528 AAH73816;ADR82727;EAW79378;EAW79379;EAW79380;EAW79381;NP_001015050;NP_001182152;Q6GMV1;XP_005247258;XP_006713591 Hs.591299 1699212;1768459 RH103187;SHGC-77297 ALG1L1 OTTHUMP00000215882;asparagine-linked glycosylation 1-like 1;beta-1,4-mannosyltransferase-like;putative glycosyltransferase ALG1-like APPROVED protein-coding ENSG00000189366 HGNC:33721 18574 VALIDATED 6901169 ALG1L15P asparagine-linked glycosylation 1-like 15, pseudogene 3 3 3 q25.31 154183806 154184620 - 155761918 155762739 - 156044129 156044950 - 730086 ABBA01058844;AC067721;AC125607;AMYH02007968;NG_008778 1757743;1784704 SHGC-146410;SHGC-149644 pseudo HGNC:44384 INFERRED 1604512 ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit Asparagine (N)-glycosylation is an essential modification that regulates protein folding and stability. ALG13 and ALG14 (MIM 612866) constitute the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation (Averbeck et al., 2007 [PubMed 17686769]).[supplied by OMIM, Jun 2009] 1 1 1 p21.3 93702743 93792951 - 95448279 95538512 - 94982723 95072956 - 6480464;6907045 12477932;15489334;15615718;16100110;17686769;18976975;21139048;21890473;22359512;23362303;23404334 199857 Q96F25 ABBA01045501;AC095033;AC105942;AK289395;AMYH02001512;BC011706;BX322578;CH471097;NM_144988;XM_005270582 AAH11706;BAF82084;EAW73026;EAW73027;NP_659425;Q96F25;XP_005270639 Hs.408927 1337799;1719871;1781856;1847742;2146813 AL009319;AL009906;D1S2819;RH123629;SHGC-84177 MGC19780 OTTHUMP00000012469;UDP-N-acetylglucosamine transferase subunit ALG14 homolog APPROVED protein-coding HGNC:28287 14466 612866 VALIDATED 6903419 ALG1L8P asparagine-linked glycosylation 1-like 8, pseudogene 11 11 11 q13.2 64876374 64893691 + 67552741 67560816 + 67785270 67793345 + 645015 ABBA01024026;AP003716;NG_008772 1768459;2020022;2020024;2020042;2020064;2020070 REN80967;REN80968;REN80977;REN80988;REN80994;SHGC-77297 pseudo HGNC:44377 INFERRED 6900943 ALG1L6P asparagine-linked glycosylation 1-like 6, pseudogene 3 3 3 p12.3 75412145 75419991 + 75464218 75473882 + 75415067 75424731 + 12477932;16344560 339879 ABBA01030984;AC139453;AMYH02007087;NG_008769 1699212 RH103187 pseudo HGNC:44375 INFERRED 6903390 ALG1L9P asparagine-linked glycosylation 1-like 9, pseudogene 11 11 11 q13.4 68813411 68817835 - 71505409 71524905 - 71794363 71813859 - 12477932 285407 ABBA01017546;ABBA01017547;AL534280;AMYH02025068;AP002495;BC054093;BC073927;NR_073386;NR_073387;NR_073388;R18473 Hs.546711;Hs.657094;Hs.689051;Hs.744693 5037552;5110807 D11S3974;D8S2279 pseudo ENSG00000248671 HGNC:44378 VALIDATED 6903436 ALG1L5P asparagine-linked glycosylation 1-like 5, pseudogene 7 7 7 p22.1 6933345 6941362 + 6963443 6971462 + 6923812 6931831 + 9847074 647415 ABBA01056512;AC079804;AMYH02015186;NG_008785 2020020;2020188 REN80963;REN81060 pseudo HGNC:44374 INFERRED 3378598 ALG1L2 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2 ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 3 3 3 q22.1 128227614 128245632 + 129800674 129817233 + 130081831 130098390 + 6480464 12477932;21890473 644974 C9J202 ABBA01059209;AC083906;AMYH02007654;BI833803;CH471052;NM_001136152 C9J202;EAW79228;NP_001129624 Hs.722197 1662590;1665297;1802842;1834048;2020024;2020060;2020078;2020140;2099824;5112137 D21S1819;ECD02309;ECD18172;REN80968;REN80986;REN80998;REN81031;SHGC-52066;a06503sbk;stSG606397 asparagine-linked glycosylation 1-like 2;beta-1,4 mannosyltransferase-like;putative glycosyltransferase ALG1L2 APPROVED protein-coding ENSG00000251287 HGNC:37258 VALIDATED 6901398 ALG1L7P asparagine-linked glycosylation 1-like 7, pseudogene 4 4 4 p16.3 3835178 3844779 + 3937173 3946775 + 3935446 3945048 + 728263 ABBA01008231;ABBA01008232;AC143342;AC226119;AMYH02008639;NG_008780 2020190;2114920;5019699 A009G03;G32520;REN81062 pseudo HGNC:44376 INFERRED 7241605 ALG3P1 ALG3, alpha-1,3- mannosyltransferase pseudogene 1 5 5 5 p15.32 5401948 5403160 - 5375745 5376957 - 5375632 5376844 - 15108280 442131 ABBA01016136;AC091978;AMYH02010797;BK001241;NG_004807 pseudo HGNC:45159 INFERRED 1318934 ALG5 ALG5, dolichyl-phosphate beta-glucosyltransferase This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 13 13 13 q13.3 18591143 18640745 - 37523907 37573504 - 36949770 36999367 - 1580863;6480464;6907045 10359825;11042152;12477932;15342556;15489334;19946888;21139048;21906983;24816145;8889548 29880 B4DR67;Q9Y673 ABBA01021347;ABBA01021348;ABBA01021349;AF088028;AF102850;AF161498;AF183413;AI027225;AK299085;AK299126;AL138706;AMYH02027873;AMYH02027874;BC012531;BF668393;BG482604;BP246765;BU739112;CB988638;CH471075;NM_001142364;NM_013338;XM_005266362 AAD41465;AAF29113;AAG09682;AAH12531;BAG61149;BAG61179;EAX08577;EAX08578;NP_001135836;NP_037470;Q9Y673;XP_005266419 Hs.507769 1662101;2132822 SHGC-34125;STS-W15306 RP11-421P11.2;bA421P11.2 Alg5, S. cerevisiae, homolog of;OTTHUMP00000018263;asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase);asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase);asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog;asparagine-linked glycosylation protein 5 homolog;dolP-glucosyltransferase;dolichyl phosphate glucosyltransferase;dolichyl-phosphate beta-glucosyltransferase APPROVED protein-coding ENSG00000120697 HGNC:20266 05193 604565 REVIEWED 6481017 ALG9-IT1 ALG9 intronic transcript 1 (non-protein coding) 100874303 AP001781 ncrna HGNC:41409 1320554 ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] 9 9 9 q22.33 72492570 72498109 - 101978707 101984246 - 99216425 99221964 - 6480464;6907045;7240710;8554872 11278427;11883939;12445460;12477932;12684507;12771190;12804766;12975309;14702039;14999017;15164053;15272470;15273506;15489334;16004603;16303743;16344560;16751776;16957052;16996505;17045351;17174262;17196169;17889823;18256029;18936101;19013425;19383317;19520058;20301507;20571937;20691033;20834162;21890473;21906983;22437941;23404334;23874384;23924735;24069399 85365 Q9H553 AA017454;AB161356;ABBA01042903;AK027417;AK027814;AK074704;AK074988;AK075172;AK075189;AL137067;AMYH02021329;AY358697;BC015126;BC017876;CH471105;CQ782967;CQ783609;DA076693;DB019023;NG_008928;NM_033087;NR_024532 AAH17876;AAQ89060;ABM82915;ABM86105;BAB55099;BAC11150;BAC11337;BAC11449;BAD11905;BAG51380;CAF86196;CAF86774;EAW58908;EAW58909;EAW58910;EAW58911;NP_149078;Q9H553 Hs.40919 1683343;1698622;1770047;1772288;1852966;1856869;2110251;2178439 ALG2__4282;D9S2091;RH102866;RH48942;RH78836;RH80035;SHGC-30916;WI-11370 CDGIi;FLJ14511;NET38;hALPG2 GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase;GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase;GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase;OTTHUMP00000123474;alpha-1,3-mannosyltransferase ALG2;alpha-1,3/1,6-mannosyltransferase ALG2;asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog;asparagine-linked glycosylation protein 2 homolog;homolog of yeast ALG2 APPROVED protein-coding HGNC:23159 09716 607905;607906 REVIEWED 1342764 ALG9 ALG9, alpha-1,2-mannosyltransferase This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 11 11 11 q23 108806108 108895523 - 111652919 111742305 - 111782195 111871581 - 1580863;6480464;6907045;7240710;8554872 11076863;11230166;12030331;12477932;14519663;14702039;15148656;15489334;15489336;15945070;16344560;16381901;16859551;19451548;19946888;20301507;21906983;21963094;21988832;8125298 79796 H0YCW6;H0YEX8;H0YF48;Q9H6U8 AB096249;ABBA01039812;ABBA01039813;ABBA01039814;AF395532;AF454937;AK025498;AK172828;AK225261;AK298811;AK308025;AL136927;AMYH02025574;AP001781;BC009255;CH471065;DA257621;FP884232;KF511118;NG_009210;NM_001077690;NM_001077691;NM_001077692;NM_024740;XM_005277723;XM_005277724;XM_006718913 AAH09255;AAL25798;AAP97696;ABM83687;ABM86990;BAB15154;BAD18793;BAG60945;CAB66861;CAL37889;CAL38056;EAW67152;EAW67153;EAW67154;EAW67155;EAW67157;EAW67158;EAW67159;NP_001071158;NP_001071159;NP_001071160;NP_079016;Q9H6U8;XP_005277780;XP_005277781;XP_006718976 Hs.745155 1682577;1768725;2163236;5020414;5022578 D11S4552;D1S1423;G17582;L17688;RH92519 CDG1L;DIBD1;DKFZp586M2420;FLJ21845;LOH11CR1J OTTHUMP00000234195;OTTHUMP00000234196;alpha-1,2-mannosyltransferase ALG9;asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase);asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase);asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase);asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog;asparagine-linked glycosylation protein 9 homolog;disrupted in bipolar affective disorder 1;disrupted in bipolar disorder protein 1;dol-P-Man dependent alpha-1,2-mannosyltransferase;dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;loss of heterozygosity, 11, chromosomal region 1 gene J product APPROVED protein-coding ENSG00000086848 HGNC:15672 09504 606941;608776 REVIEWED 1313512 ALG8 ALG8, alpha-1,3-glucosyltransferase This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 11 11 11 q14.1 75120467 75159160 - 77811988 77850699 - 78100942 78139660 - 1580863;6480464;6907045;7240710;8554872 11124703;12200473;12477932;12480927;14702039;15235028;15272470;15273506;15489334;16303743;16344560;19648040;20301507;20379614;21139048;21890473;21906983;21963094;21988832;22306853;24250222;24555185;7566098 79053 E9PK79;E9PKA5;E9PLP7;E9PNE2;E9PP04;E9PP80;E9PP96;E9PR58;H0YCV0;H0YD42;H0YDD3;H0YDQ1;H0YDV4;H0YEE0;Q9BVK2 AA375954;ABBA01017409;ABBA01017410;ABBA01017411;ABBA01017412;ABBA01017413;AJ224875;AK075184;AK075194;AK098614;AK125912;AK309050;AMYH02025146;AP002520;BC001133;BC017892;CH471076;DB362104;NG_008926;NM_001007027;NM_024079;XM_005274247;XR_428923 AAH01133;ACE87135;BAG52080;CAA12176;EAW75048;EAW75049;EAW75050;EAW75051;NP_001007028;NP_076984;Q9BVK2;XP_005274304 Hs.503368 1657250;5037552 D8S2279;STS-N35710 CDG1H;MGC2840 HUSSY-02;OTTHUMP00000233643;OTTHUMP00000233644;asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog;asparagine-linked glycosylation protein 8 homolog;dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase;dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase;dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase;dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase;dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase;probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase APPROVED protein-coding ENSG00000159063 HGNC:23161 10480 608103;608104 REVIEWED 1353820 ALK anaplastic lymphoma receptor tyrosine kinase This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011] 2 2 2 p23 29260042 29988141 - 29415640 30144477 - 29192774 29921611 - 1600902;1580863;6480464;7240710;8554872 15659732 10556217;10641597;11121404;11278720;11387242;11809760;11850821;11877285;11888936;11943732;12036886;12112524;12115586;12122009;12185581;12213716;12748172;12763927;12800156;14563642;14656879;14962911;14968112;15004538;15161657;15226403;15583856;15592455;15713979;15886198;15928040;15933425;15938644;16135792;16153455;16161041;16254137;16344560;16565220;16604305;16623783;16651537;16709933;16766651;16825495;16835382;16878150;16880530;17071493;17077326;17274988;17490616;17537995;17681947;17690253;17904822;17922009;17998938;18070884;18083107;18097461;18165268;18166835;18220322;18242762;18320074;18414414;18451166;18458503;18549625;18593892;18594010;18615104;18660380;18677384;18724359;18788887;18845790;18923523;18923524;18923525;18927303;18974134;18990089;19056867;19074885;19131589;19135051;19147828;19167335;19176054;19250532;19286999;19305144;19383809;19386350;19423729;19455469;19459784;19506219;19531656;19535344;19589272;19636007;19656549;19656550;19667264;19671850;19717436;19723661;19737969;19815557;19834503;19887368;20009909;20098747;20101209;20169312;20185586;20301782;20379614;20393185;20424160;20428197;20451371;20554525;20621063;20624322;20632993;20695522;20719933;20731666;20805506;20934803;20957039;20970119;21030459;21036415;21045017;21070126;21076462;21107285;21129606;21164297;21205076;21233286;21233844;21258247;21278610;21288922;21336183;21356191;21358343;21420271;21430068;21471522;21474455;21488949;21518927;21575866;21587085;21596819;21625996;21632861;21642865;21656749;21720997;21734404;21753699;21757253;21765024;21784300;21799923;21847065;21847362;21855164;21933749;21940108;21972109;21989914;22071784;22071890;22080568;22085494;22086496;22124476;22129856;22134072;22135231;22157554;22184391;22203728;22249260;22280150;22282022;22286764;22317764;22327622;22327623;22334013;22334442;22385925;22439933;22471704;22484425;22569898;22570254;22646268;22705117;22726922;22736493;22743652;22743654;22748945;22773605;22781601;22810114;22892933;22895149;22932897;22939624;23020707;23050789;23064464;23070248;23084186;23092569;23104988;23139213;23154552;23205942;23289484;23291583;23307059;23335077;23338972;23344087;23360421;23379755;23401436;23407557;23407559;23434628;23453647;23484153;23486271;23490651;23495083;23523007;23536384;23561259;23568951;23574788;23625156;23639470;23661334;23664096;23664446;23669200;23669222;23683537;23716548;23729361;23730215;23743932;23751074;23769207;23774148;23777859;23797004;23814019;23851431;23867124;23887300;23919423;23922356;23922677;23932486;23951022;23975180;23991058;24060861;24129244;24149177;24192124;24200637;24218456;24228132;24276038;24277751;24288180;24293609;24300132;24346098;24388371;24415871;24419423;24442099;24462463;24475247;24478382;24509625;24613277;24613930;24648382;24698962;24698967;24706829;24775606;24778081;24830726;24878018;24885982;24888607;24982409;8122112;8633037;9053841;9174053;9490693;9819383 238 B6D4Y2;E7EPW7;H7BZ33;Q9UM73 AB209477;ABBA01045244;ABBA01045245;ABBA01045246;ABBA01045247;ABBA01045248;ABBA01045249;ABBA01045250;ABBA01045251;ABBA01045252;ABBA01045253;ABBA01045254;ABBA01045255;AC074096;AC093756;AC098874;AC106870;AC106899;AK296218;AMYH02003506;AMYH02003507;AMYH02003508;AMYH02003509;AMYH02003510;AMYH02003511;CH471053;DA455128;EU788003;EU788004;EU788005;EU788006;EU788007;EU788008;EU788009;EU788010;FJ838786;FJ838787;GM868985;GU128152;GU128153;GU128154;GU128155;GU128156;GU128157;JB025728;NG_009445;NM_004304;U62540;U66559 AAB71619;AAC51104;AAI56208;AAI57091;AAX76514;AAX88892;AAX93126;AAY15027;ACI47591;ACI47592;ACI47593;ACI47594;ACI47595;ACI47596;ACI47597;ACI47598;ACY79560;ACY79561;ACY79562;ACY79563;ACY79564;ACY79565;ACZ57900;ACZ57901;BAD92714;BAG58942;CAT16962;CCV20015;EAX00506;EAX00507;EAX00508;NP_004295;Q9UM73 Hs.654469 1298117;1298125;1340486;1646079;1679926;1694698;1696272;1703826;1707294;1710328;1718855;1724041;1726595;1756735;1760911;1764737;1770036;1784004;1784104;1787544;1857791;2140441;2165040;7184043;7184990 D2S146;D2S390;D2S405;FB8C12;G19150;G29204;G43539;G62530;RH119031;RH123131;RH70535;RH92401;SHGC-142979;SHGC-143855;SHGC-144661;SHGC-148322;SHGC-153445;SHGC-155671;SHGC-78963;SHGC-79251;SHGC-82409;SHGC-83664;WI-13310 CD246;NBLST3;TFG/ALK ALK tyrosine kinase receptor;CD246 antigen;OTTHUMP00000201048;anaplastic lymphoma kinase;anaplastic lymphoma kinase (ki-1);mutant anaplastic lymphoma kinase APPROVED protein-coding ENSG00000171094 HGNC:427 00104 105590;613014 REVIEWED 1318033 ALKBH1 alkB, alkylation repair homolog 1 (E. coli) This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 58177259 58212868 - 78138749 78174365 - 77672406 77708022 - 1580863;6480464 12477932;12508121;12594517;15489334;18163532;18603530;19959401;21906983;21956739;22872573;23577621;23825659;8600462 8846 G3V4M4;H0YJF3;Q13686;Q5XKL0 ABBA01030646;AC008044;AMYH02029577;BC015024;BC025787;BX537699;CH471061;NM_006020;X91992;XM_005268165 AAF01478;AAH15024;AAH25787;ABM84629;ABM92160;CAA63047;EAW81300;EAW81301;EAW81302;NP_006011;Q13686;XP_005268222 Hs.94542 2134774;2143566;2152596;5015881;5022450;5115304 D10S275;G35523;GDB:335751;RH46436;RH69686;STS-X91992 ABH;ABH1;ALKBH;alkB;hABH DNA lyase ABH1;DNA oxidative demethylase ALKBH1;OTTHUMP00000246383;alkb, alkylation repair homolog (e. coli);alkylated DNA repair protein alkB homolog 1;alkylation repair, alkB homolog;alpha-ketoglutarate-dependent dioxygenase ABH1 APPROVED protein-coding ENSG00000100601 HGNC:17911 605345 REVIEWED 1605008 ALKBH2 alkB, alkylation repair homolog 2 (E. coli) The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008] 12 12 12 q24.11 109149917 109155219 - 109525993 109531436 - 109088188 109093631 - 6480464 12477932;12486230;12594517;15146197;15489334;16174769;16341674;16344560;17207965;18270339;18432238;18519673;18775698;19290481;20042601;20525795;20661249;20714506;21139048;21155885;21510633;21890473;22079122;22659876;23000965;23258843;23279696;23972994;24816145 121642 F5GZZ0;F5H5X2;Q6NS38;S4R3T5 AB277859;ABBA01005060;ABBA01005061;AC011596;AI278638;AK309062;AMYH02027165;AY754389;BC070489;BM785502;BM790974;BM820131;BU623121;CH471054;CN421655;CQ786763;DA182735;NM_001001655;NM_001145374;NM_001145375;NM_001205179;NM_001205180;XM_005253835;XM_005253836 AAH70489;AAV28301;ADQ32022;BAF56576;CAG17897;EAW97845;NP_001001655;NP_001138846;NP_001138847;NP_001192108;NP_001192109;Q6NS38;XP_005253892;XP_005253893 Hs.374458 1646315;1772394;2140868;2165930 D20S1119;RH45951;STS-D60111;WI-20815 ABH2;FLJ99103;MGC90512 2OG-Fe(II) oxy DC1;DNA oxidative demethylase ALKBH2;OTTHUMP00000240521;OTTHUMP00000240522;alkylated DNA repair protein alkB homolog 2;alpha-ketoglutarate-dependent dioxygenase alkB homolog 2;oxy DC1 APPROVED protein-coding ENSG00000189046 HGNC:32487 14712 610602 VALIDATED 1318803 ALG6 ALG6, alpha-1,3-glucosyltransferase This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 62122929 62193888 + 63833261 63904233 + 63367590 63438562 + 1580863;6480464;6907045;7240710;8554872;8699517 10359825;10914684;10924277;11106564;11134235;11558905;11875054;12200473;12357336;12477932;12878157;14517965;14702039;15489334;16321363;16710414;19946888;20301507;21899441;9710431;9789065 29929 A2A2G4;Q9Y672;R4GMS5;S4R350 ABBA01074570;ABBA01074571;ABBA01074572;ABBA01074573;AF063604;AF102851;AI479334;AK022700;AK295286;AL049636;AL592218;AMYH02001152;AMYH02001153;AU280221;BC001253;BI819904;CB215801;CH471059;NG_008925;NM_013339;XM_005270788 AAD41466;AAG43163;AAH01253;BAG51104;BAG58270;EAX06571;EAX06572;EAX06573;EAX06574;NP_037471;Q9Y672;XP_005270845 Hs.258501 2109033;2128959;2140778;2148327;2191629 ALG6_9608;G16184;MARC_31587-31588:1062527482:1;RH68218;SHGC-34347 CDG1C Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase;OTTHUMP00000010712;OTTHUMP00000161018;asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog;asparagine-linked glycosylation protein 6 homolog;dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase;dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase;dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase;dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase;dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase APPROVED protein-coding ENSG00000088035 HGNC:23157 05194 603147;604566 REVIEWED 1606677 ALKBH3 alkB, alkylation repair homolog 3 (E. coli) The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008] 11 11 11 p11.2 44048227 44087676 + 43902357 43941825 + 43880807 43920275 + 6480464 12477932;12486230;12594517;14702039;15489334;16174769;16344560;16858410;17968469;18029348;18854154;20525795;20714506;20970119;21285982;22055184;22515525;22826605;22850567;23602568;8570611 221120 E9PN35;E9PRD0;E9PRJ2;E9PSA5;H0YDH4;Q96Q83 AB042029;ABBA01060774;AC087521;AK125602;AK315266;AMYH02024680;AX119039;BC015155;BC067257;BC103812;BC103813;BC103814;CD364334;CH471064;CQ786761;DA685031;DQ196343;NM_139178;U38442 AAH15155;AAH67257;AAI03813;AAI03814;AAI03815;ABA27096;BAB70508;CAC38593;CAG17896;EAW68078;EAW68079;NP_631917;Q96Q83 Hs.720708 1667163;1776050;2122138 RH16415;RH48832;SGC33963 ABH3;DEPC-1;DEPC1;FLJ43614;MGC118790;MGC118792;MGC118793;PCA1 OTTHUMP00000232849;OTTHUMP00000232859;alkylated DNA repair protein alkB homolog 3;alpha-ketoglutarate-dependent dioxygenase alkB homolog 3;prostate cancer antigen 1;prostate cancer antigen-1 APPROVED protein-coding ENSG00000166199 HGNC:30141 16793 610603 VALIDATED 1314369 ALG3 ALG3, alpha-1,3- mannosyltransferase This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 3 3 3 q27.1 182400881 182408077 - 183960117 183967313 - 184242329 184249525 - 1580863;6480464;6907045;7240710;8554872;8699517 1058125;10581255;12477932;15108280;15272470;15273506;15489334;16006436;20301507;21139048;21890473;21906983;21963094;22472876;22505724;23791010;8552211 10195 B4DS50;C9J7S5;F8WE30;F8WF93;H7BZZ2;H7C0X4;Q92685 ABBA01058452;AC061705;AK289361;AK297701;AK299575;AMYH02008305;AW297350;BC002839;BC004313;BC021062;BM920198;BX339649;CH471052;CX761434;HC894865;NG_008924;NM_001006941;NM_005787;NR_024533;NR_024534;Y09022 AAH02839;AAH04313;ABM84086;ABM87455;BAF82050;BAG60059;BAG61512;CAA70220;CBN61874;EAW78282;EAW78283;NP_001006942;NP_005778;Q92685 Hs.478481 1709114;1771576;2146651 D3S2399;RH118405;SHGC-85715 CDG1D;CDGS4;D16Ertd36e;NOT56L;Not56 Not56-like protein;OTTHUMP00000210704;OTTHUMP00000210705;OTTHUMP00000210706;OTTHUMP00000210710;asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog;asparagine-linked glycosylation protein 3 homolog;carbohydrate deficient glycoprotein syndrome type IV;dol-P-Man dependent alpha(1-3)-mannosyltransferase;dol-P-Man dependent alpha-1,3- mannosyltransferase;dol-P-Man-dependent alpha(1-3)-mannosyltransferase;dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase;dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase;dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase APPROVED protein-coding ENSG00000214160 HGNC:23056 03067 601110;608750 REVIEWED 7253275 ALKBH3-AS1 ALKBH3 antisense RNA 1 11 11 11 44076710 44088327 - 43930839 43942494 - 43909289 43920944 - 14702039 100507300 ABBA01060774;AC087521;AI208428;AI376587;AK097541;AMYH02024680;BI827816;HG503723;HG503724;HG503725;NR_038907 Hs.664588 1667163;1763239;1776050;2122138 RH16415;RH48832;SGC33963;SHGC-146967 RP11-613D13.7 ncrna ENSG00000244926 HGNC:48670 VALIDATED 1602194 ALKBH8 alkB, alkylation repair homolog 8 (E. coli) ENCODES a protein that exhibits tRNA (uracil) methyltransferase activity; INVOLVED IN cellular response to DNA damage stimulus; tRNA methylation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol; nucleus; INTERACTS WITH 5-fluorouracil; valproic acid; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 11 11 11 q22.3 104528270 104591267 - 107373453 107436468 - 107502727 107565742 - 6480464;8554872 12477932;14702039;17207965;18029348;18187620;19293182;20123966;20308323;21285950;24262325 91801 C9JQN2;Q96BT7 AB218768;ABBA01039880;ABBA01039881;AF086489;AK095523;AK293603;AK298800;AK304413;AMYH02025531;AP001823;BC015183;BX649085;CH471065;NM_001301010;NM_138775;XM_005271727;XM_005271728;XM_005271729;XM_005271730;XM_005271732;XM_006718942 AAH15183;ADQ31655;BAC04566;BAG16270;BAG57067;BAG60935;BAG65244;EAW67088;EAW67089;EAW67090;NP_001287939;NP_620130;Q96BT7;XP_005271784;XP_005271785;XP_005271786;XP_005271787;XP_005271789;XP_006719005 Hs.503763 1680302;1739187;1748347;2168522;2176174 D11S3957;D11S4571;G17588;G66900;RH93706 ABH8;FLJ38204;MGC10235 AlkB homologue 8;OTTHUMP00000211286;OTTHUMP00000211287;OTTHUMP00000232587;S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8;alkylated DNA repair protein alkB homolog 8;probable alpha-ketoglutarate-dependent dioxygenase ABH8;tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8 protein-coding ENSG00000137760 HGNC:25189 14287 613306 VALIDATED 1352016 ALKBH7 alkB, alkylation repair homolog 7 (E. coli) ENCODES a protein that exhibits dioxygenase activity (inferred); metal ion binding (inferred); INVOLVED IN cellular response to DNA damage stimulus; regulation of mitochondrial membrane permeability involved in programmed necrotic cell death; fatty acid metabolic process (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrial matrix; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 19 19 19 p13.3 6311231 6314048 + 6372444 6375261 + 6372433 6375250 + 737633;6480464;8554872 12477932 12975309;15489334;21182205;21832049;23666923;8125298 84266 M0QZH2;M0QZI0;Q9BT30 ABBA01055961;AC011491;AK223336;AK311956;AMYH02035351;AY358858;AY427650;BC004393;BM271861;BX334356;CH471139;NM_032306;XM_005259658 AAH04393;AAQ89217;AAR24624;BAD97056;BAG34896;EAW69102;NP_115682;Q9BT30;XP_005259715 Hs.111099 1684511;2159914 RH65607;RH93760 ABH7;MGC10974;SPATA11;UNQ6002 alkylated DNA repair protein alkB homolog 7;alpha-ketoglutarate-dependent dioxygenase alkB homolog 7;alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial;probable alpha-ketoglutarate-dependent dioxygenase ABH7;spermatogenesis associated 11;spermatogenesis cell proliferation related protein;spermatogenesis cell proliferation-related protein;spermatogenesis-associated protein 11 protein-coding ENSG00000125652 HGNC:21306 15425 613305 VALIDATED 1603209 ALKBH5 AlkB family member 5, RNA demethylase ENCODES a protein that exhibits oxidative RNA demethylase activity; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors; poly(A) RNA binding; INVOLVED IN mRNA export from nucleus; mRNA processing; oxidative single-stranded RNA demethylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN nuclear speck; nucleus; INTERACTS WITH cobalt dichloride; formaldehyde; methyl methanesulfonate 17 17 17 p11.2 19028003 19054331 + 18086867 18113268 + 18183553 18209954 + 6480464;8554872 11997338;12477932;14702039;15489334;19322201;21139048;21264265;21890473;22113938;23177736;23251661;24163370;24250222;24489119;24616105;24778178;24816145;8889548 54890 K7ER58;Q6P6C2 ABBA01009738;AC087164;AC109515;AK000129;AK000315;AK025817;AK301107;AK311161;AK311511;AL137263;AMYH02033109;BC062339;BI823385;BU740432;CH471196;KC877644;NM_017758 AAH62339;BAA91078;BAG62706;EAW55661;EAW55662;NP_060228;Q6P6C2 Hs.744130 1676238;1732125;2175916 D17S976;RH75515;STS-H01962 ABH5;FLJ20308;OFOXD1 OFOXD;OTTHUMP00000065701;RNA demethylase ALKBH5;alkB, alkylation repair homolog 5;alkylated DNA repair protein alkB homolog 5;alpha-ketoglutarate-dependent dioxygenase alkB homolog 5;oxoglutarate and iron-dependent oxygenase domain containing;probable alpha-ketoglutarate-dependent dioxygenase ABH5 APPROVED protein-coding ENSG00000091542 HGNC:25996 08621 613303 VALIDATED 1603303 ALKBH4 alkB, alkylation repair homolog 4 (E. coli) ENCODES a protein that exhibits actin binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors; INVOLVED IN actomyosin structure organization; cleavage furrow ingression; protein demethylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN contractile ring; midbody; INTERACTS WITH copper atom; copper(0); copper(2+) sulfate 7 7 7 q22.1 97108971 97117656 - 102096667 102105321 - 102456220 102464874 - 6480464;8554872 12477932;14702039;15489334;17207965;17979886;18029348;21166655;23145062;23673617;24250222;24816145;8125298 54784 Q9NXW9 ABBA01011281;ABBA01011282;AC093668;AC244503;AK000020;AK026097;AK222689;AMYH02016437;AMYH02016438;BC002820;BC017096;BX353099;CA420615;CH471197;CS300642;NM_017621;XM_005250464;XM_005250465 AAH02820;AAH17096;ADQ31831;BAA90888;BAB15358;BAD96409;CAK32306;EAW50249;NP_060091;Q9NXW9;XP_005250521;XP_005250522 Hs.658598 5014467 GDB:313557 ABH4;FLJ20013 OTTHUMP00000212413;alkylated DNA repair protein alkB homolog 4;alpha-ketoglutarate-dependent dioxygenase alkB homolog 4;probable alpha-ketoglutarate-dependent dioxygenase ABH4 protein-coding ENSG00000160993 HGNC:21900 07875 613302 VALIDATED 1605913 ALKBH6 alkB, alkylation repair homolog 6 (E. coli) ENCODES a protein that exhibits metal ion binding (inferred); oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH disodium selenite; methyl methanesulfonate; valproic acid 19 19 19 q13.12 33214202 33219321 - 36500022 36505145 - 36009120 36014243 - 6480464 12477932;8889548 84964 B2RAE0;E9PI76;H0YD66;H0YD83;H0YDL7;H0YEC4;H0YEM5;Q3KRA9;S4R3C7 AB273714;ABBA01018777;AC002116;AK304805;AK310130;AK310704;AK314150;AK315894;AMYH02035999;BC007601;BC036061;BC105801;BM713594;BQ447659;BU963363;NM_001297701;NM_032878;NM_198867;XM_005259357;XM_005259358;XM_005259359;XM_005259360;XM_006723449 AAI05802;BAF63844;BAF98785;BAG36837;BAG65555;NP_001284630;NP_116267;NP_942567;Q3KRA9;XP_005259414;XP_005259415;XP_005259416;XP_005259417;XP_006723512 Hs.71941 1670380;2110321;2153649;2161210;2169509;5015619 CLIPR-59__4586;D11S3114;D19S673E;RH12731;RH48333;WI-15016 ABH6;MGC15677 OTTHUMP00000045817;OTTHUMP00000180599;OTTHUMP00000233159;OTTHUMP00000233160;alkylated DNA repair protein alkB homolog 6;alkylation repair homolog 6;alpha-ketoglutarate-dependent dioxygenase alkB homolog 6;probable alpha-ketoglutarate-dependent dioxygenase ABH6 protein-coding ENSG00000239382 HGNC:28243 17510 613304 VALIDATED 1323128 ALMS1 Alstrom syndrome 1 This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014] 2 2 2 p13 73463729 73687908 + 73612886 73837047 + 73385758 73609919 + 1601169;1580863;1576431;6480464;7240710;8696013;8554872;8696017;8696014;8699517;8696015;8696016;8696018 11941369;15855349;16000322;16513793;16601972;16720663;22876109;24049434 10598815;11941370;12168954;12221128;12421765;12477932;12827243;14646408;14654843;15489334;15815621;17206865;17594715;17850632;17954613;18029348;18506366;19091203;19283855;19913121;20301444;20379614;20381594;20383145;20383146;20628086;20801516;20844083;21139048;21541333;21877133;21886157;21901789;21906983;21931564;21963094;22190034;22447358;22505724;22693585;22895009;22990118;23445176;23602568;23934736;24122612;24255178;24319333;24778252;7790358;9063741;9205841;9921899 7840 H7C1D9;Q8TCU4 AB002326;ABBA01075580;ABBA01075581;ABBA01075582;AC074008;AC092653;AC096546;AJ417593;AL832273;AL833495;AMYH02004072;AMYH02004073;AMYH02004074;AX751581;BC035025;BC050330;BX647706;BX648632;CH471053;EF151141;KF573641;NG_011690;NM_015120 AAH35025;AAH50330;AAX82023;AAY24208;ABL96615;BAA20786;CAD10391;CAE11759;EAW99728;EAW99729;EAW99730;EAW99731;NP_055935;Q8TCU4 Hs.184720 1683697;1686712;1749491;1751141;1774323;1848694;2120518;2133151 D2S2065;D2S2608;D2S2696;RH12381;RH45615;RH98437;SHGC-105060;SHGC-111206 ALSS;DKFZp686A118;DKFZp686D1828;KIAA0328 Alstrom syndrome protein 1;OTTHUMP00000202344;OTTHUMP00000202401 APPROVED protein-coding ENSG00000116127 HGNC:428 06023 203800;606844 REVIEWED 6481119 ALMS1-IT1 ALMS1 intronic transcript 1 (non-protein coding) 2 p13.1 73457103 73459482 + 100874291 ABBA01075580;AC074008;AMYH02004072;BC041487;NR_046762 Hs.668279 ncrna HGNC:41305 VALIDATED 736731 ALLC allantoicase Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008] 2 2 2 q35 3714865 3759339 + 3705786 3750261 + 3658196 3702671 + 1580863;6480464;6907045 11054555;12036579;12477932;15489334;15815621;16344560;23251661 55821 B4DY77;Q8N6M5 ABBA01006100;ABBA01006101;AC010907;AF215924;AF395820;AK302299;AMYH02003198;AMYH02003199;AMYH02003200;AMYH02003201;BC029652;BC035356;CH471053;DB054905;KF456624;NM_018436;XM_005263851;XM_006711891 AAF67097;AAH29652;AAH35356;AAK72970;AAY24236;BAG63639;EAX01050;EAX01051;NP_060906;Q8N6M5;XP_005263908;XP_006711954 Hs.97899 1678415;2175340 D18S1347;RH98402 ALC OTTHUMP00000200095;allantoate amidinohydrolase;probable allantoicase APPROVED protein-coding ENSG00000151360 HGNC:17377 10642 612396 VALIDATED 1606431 ALMS1P Alstrom syndrome 1 pseudogene INVOLVED IN endosomal transport (inferred); regulation of stress fiber assembly (inferred); INTERACTS WITH copper(2+) sulfate 2 2 2 p13.1 73722887 73763538 + 73872046 73912699 + 73644919 73685572 + 6480464 12477932;16344560;20383145;23535967 200420 Q96L16 ABBA01075584;AC092653;AK307160;AMYH02004074;AMYH02004075;BC014492;CH471053;DA427693;NR_003683 ABM83977;ABM87298;EAW99725;EAW99726;Q96L16 Hs.739204;Hs.745426 1696998;1765527;1796390;2170787 NAT8_959;RH101973;RH15629;SHGC-149003 ALMS1L pseudo ENSG00000163016 HGNC:29586 11245 VALIDATED 9587487 ALOX12-AS1 ALOX12 antisense RNA 1 17 17 6888442 6915678 - 6985123 7012334 - 100506713 ABBA01054842;ABBA01054843;ABBA01054844;ABBA01054845;AC040977;AK074580;AMYH02032881;AMYH02032882;BI559919;LN608631;NR_040089 Hs.422967 ncrna ENSG00000215067 HGNC:51342 VALIDATED 1322469 ALOX12 arachidonate 12-lipoxygenase ENCODES a protein that exhibits arachidonate 12-lipoxygenase activity; linoleate 13S-lipoxygenase activity; hepoxilin-epoxide hydrolase activity (ortholog); INVOLVED IN arachidonic acid metabolic process; cellular component movement; fatty acid oxidation; PARTICIPATES IN arachidonic acid metabolic pathway; lipoxygenase mediated pathway of arachidonic acid metabolism; ASSOCIATED WITH Albuminuria; Breast Neoplasms; Carcinoma, Renal Cell; FOUND IN cytoplasm; cytosol; extracellular vesicular exosome; INTERACTS WITH arachidonic acid; baicalein; benzene 17 17 17 p13.1 6924952 6939560 + 6899384 6914055 + 6996065 7010736 + 1578303;1580863;1578309;1578308;2313845;2313877;2313872;2313875;2315607;2315608;2315609;2315610;2315611;5509594;5509789;5509621;5509628;5509597;5509614;5509617;5509787;5509788;6480464;6907045 12432922;14532840;14654968;14669797;14767568;15518705;15623566;15896353;16118253;16445702;18640486;18780776;19103735;19282568;20554417;20978234;7511046;7624992;7679252;8304420;9500559 10446449;10727209;10760478;11914583;12394183;12477932;12538614;12664313;12664573;12664578;12731864;12858336;12907138;1447217;15010818;15105833;15107407;15111312;15142951;15305153;15308583;15474031;15489334;1570320;15729574;15797645;16118214;16482570;16514435;16598376;16638750;16788089;17045234;17151091;17192687;17236225;17379189;17460548;17520163;17893696;18086569;18155727;18187376;18504448;1851637;18547056;18676680;18755188;18992148;19046748;19056867;19170196;19328558;19423540;19469483;19625176;19663136;19692168;19885615;19913121;19948975;20061896;20089617;20181616;20382140;20406964;20431935;20438785;20453000;20570249;20592751;20626912;20628086;20653566;20697415;21085606;21094135;21104233;21127289;21225230;21945939;22089472;2217179;22237009;22275252;22323304;22384268;2244907;22668814;22825379;22864639;22895552;22924777;22980500;23079635;23526143;23528921;23578768;23715757;2377602;23784669;23828562;24686056;3406043;3926763;7868854;8250832;8319693;8641843;8912711;9082968;9751607 239 K7ENN9;P18054 ABBA01054844;ABBA01054845;AC040977;AF143883;AMYH02032881;AMYH02032882;AY527817;BC069557;CH471108;D12638;M35418;M58704;M62982;M87004;NM_000697;S68587;S68588;XM_005256588;XM_006721496;XM_006721497 AAA51533;AAA51587;AAA59523;AAA60056;AAD14020;AAD14021;AAD32700;AAH69557;AAS00094;BAA02162;EAW90281;NP_000688;P18054;XP_005256645;XP_006721559;XP_006721560 Hs.654431 1697340;1724417;1745453;1789727;1851250;2181972;2218986 ALOX12_4210;GDB:607713;RH102167;RH122370;SHGC-12725;WI-17813;csnpalox12-pcr1-1 12-LOX;12S-LOX;LOG12 12(S)-lipoxygenase;12S-lipoxygenase;OTTHUMP00000128281;arachidonate 12-lipoxygenase, 12S-type;lipoxin synthase 12-LO;platelet 12-LOX;platelet-type 12-lipoxygenase;platelet-type lipoxygenase 12 protein-coding ENSG00000108839 HGNC:429 01066 152391 VALIDATED 1606590 ALOX12P1 arachidonate 12-lipoxygenase pseudogene 1 17 17 17 q11 25718217 25730977 + 28856691 28869451 + 30529673 30542433 + 1570320 243 ABBA01015000;AC005562;AC011840;AMYH02033275;NG_000844 ALOX12P pseudo HGNC:431 INFERRED 1313295 ALOX12B arachidonate 12-lipoxygenase, 12R type This gene encodes an enzyme involved in the converstion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 8003604 8018665 - 7975954 7991021 - 8072636 8087703 - 1580863;1578309;6480464;6484113;6907045;7240710;8554872;8699517 12432922 10727209;11350124;11368351;11773004;12477932;12664578;14702039;15489334;15629692;17139268;17436029;17975119;18086569;18347291;19023099;19064572;19131948;19372141;19423540;19558494;19890349;20301593;20406964;20438785;21821891;22441738;22622417;23621129;23954555;24021977;9618483;9837935 242 O75342 ABBA01054895;AC129492;AF038461;AF059250;AJ305026;AJ305027;AMYH02032919;BC041058;CH471108;NG_007099;NM_001139 AAC39770;AAC79680;AAH41058;CAC34520;EAW90095;NP_001130;O75342 Hs.136574 12R-LOX;ARCI2 12R-lipoxygenase;OTTHUMP00000135320;arachidonate 12-lipoxygenase, 12R-type;epidermis-type lipoxygenase 12 APPROVED protein-coding ENSG00000179477 HGNC:430 04772 242100;603741 REVIEWED 1354244 ALOX12P2 arachidonate 12-lipoxygenase pseudogene 2 17 17 17 p13 6821120 6829473 + 6756895 6803668 + 6853576 6900349 + 6480464 12477932;1570320;24322204;9691181 245 ABBA01054838;AC027763;AF020774;AF020775;AL832768;AMYH02032877;AMYH02032878;AMYH02032879;BC041851;BU689660;DB019000;NR_002710;NR_120453 Hs.378695 5022200;5037552 D8S2279;L18426 ALOX12E;MGC43625 pseudo HGNC:432 VALIDATED 1352372 ALOX15 arachidonate 15-lipoxygenase ENCODES a protein that exhibits arachidonate 12-lipoxygenase activity; arachidonate 15-lipoxygenase activity; phosphatidylinositol-4,5-bisphosphate binding; INVOLVED IN arachidonic acid metabolic process; cellular response to calcium ion; cellular response to interleukin-13; PARTICIPATES IN interleukin-4 signaling pathway; atherosclerosis pathway; lipoxygenase mediated pathway of arachidonic acid metabolism; ASSOCIATED WITH Alzheimer Disease; Nasal Polyps; Acute Lung Injury (ortholog); FOUND IN cytosol; extrinsic component of cytoplasmic side of plasma membrane; lipid particle; INTERACTS WITH all-trans-retinoic acid; arachidonic acid; cis-caffeic acid 17 17 17 p13.3 4546922 4554338 - 4534214 4545583 - 4630919 4641665 - 1580863;70288;5509611;5509618;5509620;5509625;5509626;5509605;5509607;5128564;5509623;5509627;5509595;5509622;1642301;5509597;5509598;5509608;5509610;5509613;5509615;5509784;5509599;6480464;6484113;6907045;8554872 15111312;15328042;15708862;16497176;17384141;17940120;18206890;18635843;18692885;18941242;19546247;19628725;19675173;19752233;19787041;20167207;20554417;20570249;20724598;20967760;7967345;8117750 10200270;10464294;11023533;11196700;11278875;11475334;11861792;11956198;12084190;12477932;12664577;12664628;12731864;12748293;12907138;14643174;14757756;15194425;15459485;15489334;1566855;1570320;15838625;15879104;15912043;15967444;15996861;16000313;16179498;16320347;16357157;16556493;16598376;1662607;16820097;16847316;16997127;17043146;17052953;17164146;17227895;1729692;1733732;17344094;17439326;17520163;17652958;17662651;17711445;17959182;17991885;18029348;18067895;18090132;18180398;18187376;18198215;18227726;18239141;1825526;18392641;18547056;18647347;18676680;18684974;18692814;18755188;18774388;18785202;18799463;19046748;19089921;19130894;19131063;19131661;19170196;19198625;19296842;19325142;19423540;19429775;1944593;19453261;19469483;19481615;19497113;19528634;19568414;19576981;19625176;19663136;19692168;19752603;19775287;19913121;19942621;19948975;2010530;20308035;20382140;20406964;20438785;20485444;20592751;20628086;20649594;20668019;20676957;20861348;21094135;21544861;21558275;21771656;21831839;21881028;22037943;22078795;22089472;22094113;22210710;22275252;22301860;22351111;22472308;22516296;22652554;22750246;22825379;22879973;22960430;23066085;23079635;23181793;23249676;23285160;23404351;23474367;23528921;23828562;23838566;23844124;23872364;23958500;24742828;2719708;3202520;3202857;3356688;7961680;9224951;9414270;9700053;9822675;9931410 246 I3L175;P16050 ABBA01054771;ABBA01054772;AC118754;AK290309;AK296792;AK296821;AK296904;AK312557;AK316126;AMYH02032826;AY505111;BC029032;CH471108;M23892;M95923;NM_001140;U63384;U88317 AAA35482;AAA36182;AAB49305;AAC52118;AAH29032;AAR84235;BAF82998;BAG35454;BAH12431;BAH12437;BAH12452;BAH14497;EAW90427;EAW90428;NP_001131;P16050 Hs.73809 1660751;2128006;2190225;2190227;5022651 ALOX15-A611G;ALOX15-F4-R4;D11S2921;SHGC-35280;STS-U88317 12-LOX;15-LOX;15-LOX-1;15-LOX2;15LOX-1 12/15-lipoxygenase;15-lipooxygenase-1;OTTHUMP00000115936;arachidonate 12-lipoxygenase, leukocyte-type;arachidonate omega-6 lipoxygenase protein-coding ENSG00000161905 HGNC:433 01067 152392 VALIDATED 1345047 ALOX15P1 arachidonate 15-lipoxygenase pseudogene 1 17 17 17 6586307 6590535 + 6561038 6564701 + 6657719 6661382 + 11350124 100652883 ABBA01054837;AC004706;AMYH02032876;BG760841;DY655533;NR_045985 Hs.549540 ALOX15P APPROVED pseudo HGNC:13742 VALIDATED 731629 ALOX15B arachidonate 15-lipoxygenase, type B This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7969928 7980051 + 7942343 7952452 + 8039040 8049134 + 1580863;1578310;6480464;6907045 12432923 10542053;11350124;11839751;12477932;12659684;12704195;15247906;15342556;15489334;15698583;15797645;15799828;16556493;16682954;17139268;18067895;18156936;19064572;19423540;19645454;19661680;20406964;20428779;20438785;20668019;20677014;21316676;21900394;21951814;22078795;22939629;22980500;2318885;24376652;24497644;9177185 247 I3L1D5;O15296 ABBA01054895;AC129492;AF149095;AF468051;AF468052;AF468053;AF468054;AJ305028;AJ305029;AJ305030;AJ305031;AK292779;AK298095;AK300554;AMYH02032918;BC033294;BC035217;BC063647;BP327830;CA307212;CA405703;CH471108;NG_029482;NM_001039130;NM_001039131;NM_001141;U78294 AAB61706;AAD37786;AAH35217;AAH63647;AAL76274;AAL76275;AAL76276;AAL76277;ABM82271;ABW03380;BAF85468;BAG60380;BAG62260;CAC34521;EAW90097;EAW90098;EAW90099;EAW90100;EAW90101;EAW90102;NP_001034219;NP_001034220;NP_001132;O15296 Hs.111256 1736949;1762115;1793342 D17S561;PMC21017P1;SHGC-146014 15-LOX-2 15-LOX-B;15-lipoxygenase 2;15S-lipoxygenase;OTTHUMP00000135321;arachidonate 15-lipoxygenase 2;arachidonate 15-lipoxygenase B;arachidonate 15-lipoxygenase type II;arachidonate 15-lipoxygenase, second type;arachidonate omega(6) lipoxygenase;linoleate 13-lipoxygenase 15-LOb APPROVED protein-coding ENSG00000179593 HGNC:434 04739 603697 REVIEWED 4144232 ALOX15P2 arachidonate 15-lipoxygenase pseudogene 2 9 9 9 q22.31 66099611 66125646 + 95675441 95683839 + 92913159 92921557 + 642959 ABBA01018599;AL389924;AMYH02021227;NG_028727 1751823 SHGC-105834 pseudo HGNC:39027 INFERRED 732775 ALOX5 arachidonate 5-lipoxygenase This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 10 10 10 q11.2 41889257 41939521 + 45869624 45941569 + 45374176 45446119 + 734559;1331525;734558;734557;1580863;1626154;1626153;1626152;1300048;1578311;632195;1626150;1626151;2313910;2317527;2317529;2317531;2317535;2317536;2317521;2317523;2317524;2317522;2317525;2317533;4890414;4890432;4890435;4890413;4890422;4890423;4890433;4890410;4890411;4890419;4890430;4890415;4890434;4890418;4890420;4890421;4890407;4890429;4890405;4890417;4890408;5147463;5147462;5147467;5147465;6480464;6907045;7240710;8554872 10369259;10984370;11035107;11468001;11832453;11865407;12163367;12481414;12490039;12773506;12911785;1386887;14702425;14726295;14769366;15107407;15118671;15894604;16024599;16331105;16364163;16677242;17118201;17182931;17394438;17517102;18174194;18204779;18507031;1886988;19033731;19194548;19194550;19580807;19816089;19884440;20011686;20067482;20128419;20204486;20231413;8111595;8621765;8647941;8879219;9109363;9445303;9642160 10051563;10514459;10673219;10779545;11297527;11462800;11471199;11785969;11796736;11844797;12021253;12107604;12111389;12140292;12234060;12354292;12477932;12525578;12629151;12664574;12695552;12730086;12751728;12751768;12751769;12859962;12893830;12907138;14532840;14749922;14767568;15010818;15219851;15280375;15301234;15308583;1540191;15616590;15661803;15848143;15923196;15933245;16135563;16165096;16275640;16293801;16361798;16385451;16402861;16413224;16495221;16531984;16537708;16672272;16698924;16733792;16750418;16899822;16919603;16924104;17018618;17072961;17080223;17115186;17236225;17373700;17373938;17434678;17460547;17467166;17500032;17521309;17616938;17703412;17825794;17894944;17909879;17924829;18179798;18180307;18218859;18280718;18295198;18339529;18366797;18369664;18398223;18421027;18421434;18525291;18571838;18676680;18678882;18842779;18843019;18927292;18976020;18978352;18991687;18992148;18996667;19022417;19053751;19075240;19083497;19130089;19131661;19134178;19170196;19214143;19224689;19233132;19247692;19258923;19390118;1939225;19423540;19446447;19450127;19473080;19497113;19524426;19578796;19625176;19692168;19717473;19724895;19807693;19851296;19888660;19913121;19919819;19948975;20110601;20126469;20139978;20173757;20198315;20372792;20382140;20388081;20406964;20438785;20453000;20503287;20549218;20592751;20628086;20677014;20682687;21098726;21200133;21224059;21233389;21296957;21314617;21403093;21482803;21540635;21605700;21723968;21729626;21832049;21883892;22050225;22253131;22282663;22293202;22363630;22433003;2251250;22516296;22616993;22690932;22739369;22808264;22825379;23067353;23079278;23079635;23179791;23332172;23351835;23448388;23485709;23572152;23600541;23642263;23720274;23727898;23746795;23752617;23828562;24005813;24097068;24130502;24226420;24335295;24350867;24480307;2565035;2829172;3134355;3422434;7556168;7624354;7929073;8066098;8125298;8245774;8268460;8585605;9079648;9150468;9435249;9639560 240 P09917 AB208946;ABBA01050026;ABBA01050027;AK225603;AK315223;AL731567;AMYH02022735;AW403395;BC034464;BC040450;BC130332;BC132677;BC143985;BC143986;BM153780;BQ003253;CH471160;HM592258;HM592259;HM592260;HM592261;J03571;J03600;J04520;JQ728550;M38191;NG_011437;NM_000698;NM_001256153;NM_001256154 AAA36183;AAA59522;AAA63212;AAA65450;AAI30333;AAI32678;AAI43986;ADR30798;ADR30799;ADR30800;ADR30801;ADR83089;AFH78150;BAD92183;EAW86642;EAW86643;NP_000689;NP_001243082;NP_001243083;P09917 Hs.89499 1667193;1682027;1688642;1698404;2110253;2128207;2131506;2146763;2157950;2187215;5017485;5020274;5022615;5118686 ALOX5;ALOX5_4211;D10S1413;D11S2467;D11S3553;L18441;RH102744;RH17822;RH40180;RH79041;RH98891;SHGC-59903;SHGC-60141;WI-9162 5-LO;5-LOX;5LPG;LOG5;LOX-5;MGC163204 5-lipoxygenase;OTTHUMP00000019502;arachidonic 5-lipoxygenase alpha-10 isoform;arachidonic 5-lipoxygenase delta-10-13 isoform;arachidonic 5-lipoxygenase delta-13 isoform;arachidonic 5-lipoxygenase delta-p10 isoform;arachidonic acid 5-lipoxygenase;leukotriene A4 synthase APPROVED protein-coding ENSG00000012779 HGNC:435 01065 152390;600807 REVIEWED 736460 ALOX5AP arachidonate 5-lipoxygenase-activating protein This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011] 13 13 13 q12 12378644 12407516 + 31287615 31338565 + 30713478 30764428 + 1578317;1331525;1580863;632195;2313883;2313884;2313886;2313891;2313892;2313900;2313902;2313907;2311309;2313910;69749;2313931;2313895;2313903;2313905;2313913;2313888;734558;4890422;4890409;1626154;4890421;4890407;4890405;5147466;5147461;5147464;5147465;4890420;5147467;5147469;5147462;6480464;7240710;8554872 10527888;11035107;11468001;11865407;12490039;12911785;14733414;14770184;15118671;15784112;17379835;17517102;17922411;18258817;18506375;18547289;18591367;18843019;18945963;18959458;18977990;19046748;19288030;19364335;19373490;19596146;19596330;19749079;20067482;20128419;2300173;8647941;8879219;9445303;9642160 10036194;11090070;12477932;12571239;12629151;14702425;14749922;15057823;15489334;15593193;15640973;15731479;15861005;15876305;15886380;1588922;16127181;16144515;16282974;1673682;16778124;16939001;17304054;17387518;17460547;17505527;17600184;17627106;17655870;18084092;18318662;18323512;18366797;18369664;18374923;18398223;18398440;1857337;18775537;19126581;19130089;19131661;19166692;19233132;19336475;19361804;19417766;19423540;19450127;19524426;19622707;19729601;19946888;19948975;20014490;20194722;20357438;20369037;20376802;20379614;20406964;20438785;20485444;20592751;20810156;21153769;21199733;21227888;21675249;21816595;21893978;21988832;22051033;22074807;22129473;22206291;22537113;22726381;22849376;23076369;23404351;23546934;23738518;23765972;23828562;24025145;24148560;24183033;24905297;25010723;25034252;7938075;8049076;8071328;8245774;8440384;8703034;8777565;9435249 241 P20292 ABBA01035689;AK314143;AL512642;AMYH02027800;AY619687;BC018538;BG569867;BQ003388;CH471075;M60470;M63259;M63260;M63261;M63262;NG_011963;NM_001204406;NM_001629 AAA35845;AAH18538;AAT38104;ABM82573;ABM85762;EAX08467;NP_001191335;NP_001620;P20292 Hs.507658 1717711;1755397;1765595;2113416;2113470 D13S1772;D13S1800;RH121762;SHGC-142275;SHGC-149049 FLAP MK-886-binding protein;OTTHUMP00000018204;arachidonate 5-lipoxygenase activating protein APPROVED protein-coding ENSG00000132965 HGNC:436 04742 601367;603700 REVIEWED 1314765 ALOXE3 arachidonate lipoxygenase 3 This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 17 p13.1 8026859 8049862 - 7999218 8022365 - 8095900 8118916 - 1599073;1580863;6480464;7240710;8554872;8699517 11773004 11350124;12477932;12881489;14702039;15489334;15629692;16344560;17045234;17139268;17436029;19064572;19131948;19423540;19890349;20301593;20406964;20438785;20921226;20923767;21139048;21963094;22622417;23000965;23954555;24021977 59344 J3KPH2;Q9BYJ1 ABBA01054896;ABBA01054897;AC129492;AF182218;AJ269499;AJ305020;AJ305021;AJ305022;AJ305023;AJ305024;AJ305025;AK292732;AK296416;AK299742;AK313677;AMYH02032919;BC101938;BC101939;BC103508;BC104724;CH471108;DA183156;DC376381;NG_015807;NM_001165960;NM_021628;XM_005256745 AAG16899;AAI01939;AAI01940;AAI03509;AAI04725;BAF85421;BAG36428;BAH12346;BAH13114;CAC12843;CAC34518;EAW90093;EAW90094;NP_001159432;NP_067641;Q9BYJ1;XP_005256802 Hs.232770 1797276;2139449 ALOXE3_703.2;humtgkql ARCI3;E-LOX;MGC119694;MGC119695;MGC119696;eLOX-3;eLOX3 OTTHUMP00000135319;e-LOX-3;epidermal LOX-3;epidermal lipoxygenase;epidermis-type lipoxygenase 3;hydroperoxide isomerase ALOXE3 APPROVED protein-coding ENSG00000179148 HGNC:13743 06231 242100;606545;607206 REVIEWED 6777891 ALOXE3P1 arachidonate lipoxygenase 3 pseudogene 1 17 17 17 8002354 8003498 + 7974704 7975848 + 8071386 8072530 + 100420216 ABBA01054895;AC129492;AMYH02032919;NG_026215 1756139 SHGC-142949 pseudo HGNC:44238 INFERRED 737157 ALPI alkaline phosphatase, intestinal There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is upregulated during small intestinal epithelial cell differentiation. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 227085143 227089052 + 233320833 233325455 + 232456123 232460745 + 1580863;1300048;6480464;6907045 11352565;12372831;12466148;12477932;12577238;12660142;12919939;1321014;1458595;15143152;15302935;15715171;15774940;15831710;16344560;17139249;17353931;17498884;18292227;18307834;19322201;19407215;19786094;20489044;21963094;22262031;22783049;2841341;3443302;3458202;3468508;3469665;3687940;3697102;7482591;8240697;8449034;9755994 248 F8WEQ0;P09923 AA190871;ABBA01002020;AC068134;AK313163;AMYH02005986;BC132678;CH471063;DA925041;J03930;M15694;M21499;M31008;NM_001631;XR_241303;Y00512 AAA51703;AAA51704;AAA98617;AAI32679;AAY24089;BAG35981;CAA68564;EAW70997;EAW70998;NP_001622;P09923 Hs.37009 1741471;2218212;5119713 ALPI_4039;GDB:180439;GDB:181233 IAP Kasahara isozyme;OTTHUMP00000164357;alkaline phosphatase 1, intestinal, defined by ssr;alkaline phosphomonoesterase;glycerophosphatase;intestinal alkaline phosphatase;intestinal-type alkaline phosphatase APPROVED protein-coding ENSG00000163295 HGNC:437 01376 171740 REVIEWED 1343226 ALPK2 alpha-kinase 2 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 18 18 18 q21.31 52864790 53011746 - 56148479 56296189 - 58481247 58628957 - 6480464;8554872 10021370;14702039;19690890;21833088;21963094;22641666 115701 Q86TB3 ABBA01056149;ABBA01056150;ABBA01056151;ABBA01056152;ABBA01056153;AC104971;AC105105;AK092133;AK092194;AK125243;AL832018;AMYH02034809;AMYH02034810;AMYH02034811;AMYH02034812;AY044450;BX647446;BX647639;BX647796;CH471096;NM_052947;XM_005266646 AAI72418;AAK95952;BAC03812;CAD89922;EAW63077;NP_443179;Q86TB3;XP_005266703 Hs.628152 1644577;1655565;1679866;1783682;1851282 D18S881;G18021;RH99213;SHGC-145775;STS-R27572 FLJ34875;FLJ43253;HAK OTTHUMP00000163641;alpha-protein kinase 2;heart alpha-kinase;heart alpha-protein kinase protein-coding ENSG00000198796 HGNC:20565 11019 VALIDATED 1351787 ALPK1 alpha-kinase 1 This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 4 4 4 q25 110512576 110657856 + 113218480 113363774 + 112297326 112442618 + 1580863;6480464;8554872 10021370;10737800;10819331;12168954;12477932;14702039;15221005;15489334;15883161;16344560;20332099;21208416;21799462;21822924;22484627;22623531;22939624;23539754;23569188 80216 B3KUH8;B4E0R2;D6RB29;D6RDN6;Q96QP1 AB040960;AB075877;ABBA01063814;ABBA01063815;AC004049;AK026323;AK026715;AK091872;AK097246;AK131090;AK303489;AK304708;AMYH02009932;AY044164;BC028117;BC060780;BE155590;BX648798;CH471057;DB250317;KF457808;NM_001102406;NM_001253884;NM_025144;XM_005263245;XM_005263246;XM_005263247;XM_005263248;XM_006714326 AAK94675;BAA96051;BAB15444;BAC85140;BAD38659;BAG53440;BAG64524;BAG65473;EAX06274;EAX06275;EAX06276;NP_001095876;NP_001240813;NP_079420;Q96QP1;XP_005263302;XP_005263303;XP_005263304;XP_005263305;XP_006714389 Hs.652825 1643694;1647667;1676059;1689063;1695060;1708878;2170760;5024039 D16S325;D4S807;G34085;RH93680;RH98332;SHGC-23848;SHGC-23924;SHGC-83938 8430410J10Rik;FLJ22670;KIAA1527;LAK OTTHUMP00000163832;OTTHUMP00000219656;alpha-protein kinase 1;chromosome 4 kinase;lymphocyte alpha-kinase;lymphocyte alpha-protein kinase APPROVED protein-coding ENSG00000073331 HGNC:20917 09554 607347 VALIDATED 1344760 ALPK3 alpha-kinase 3 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN heart development (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH (+)-catechin; 17beta-estradiol; calcitriol 15 15 15 q25.2 61786084 61843035 + 85359911 85416713 + 84816680 84873482 + 1580863;6480464;8554872 10021370;10718198;11418590;12477932;14702039;22005931;23648065 57538 Q96L96 AB037751;ABBA01052949;ABBA01052950;AC012291;AC103741;AK022943;AK024829;AK026851;AK300484;AL109725;AL109780;AL365516;AL832372;AL833276;AL833288;AMYH02030958;AY044449;BC016870;BC040192;BC067284;CH471101;NM_020778 AAK95951;BAA92568;BAG62199;EAX01960;NP_065829;Q96L96 Hs.459183 1337137;1653156;1753893;1761463;2142948;2146209;2163347;2219928 A007D25;D15S653;MIDORI__6315;RH41993;SHGC-108121;SHGC-145472;STS-AA019539;WI-18039 FLJ12881;FLJ21176;KIAA1330;MAK MIDORI;OTTHUMP00000192892;alpha-protein kinase 3;muscle alpha-kinase;muscle alpha-protein kinase;myocyte induction differentiation originator protein-coding ENSG00000136383 HGNC:17574 11365 VALIDATED 1346147 ALPL alkaline phosphatase, liver/bone/kidney There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 1 1 1 p36.12 20158568 20227624 + 21835475 21904905 + 21508982 21578412 + 1599076;1580863;1601172;1601177;1601174;1601171;1601173;2315616;2315619;6480464;6907045;7240710;8554872;8699517 10547581;16197789;16249437;16336518;17010978;17403193;18288101;8406453 10094560;10332035;10508980;10679946;10690885;10737975;10834525;10865224;11073119;11438998;11479741;11528114;11745997;11760847;11810413;11834095;11855933;11999978;12357339;12372831;12397600;12412800;12477932;12638946;12788869;12815606;12920074;1321014;1409720;14517339;1458595;14702039;14756545;15135428;15146197;15208311;15230135;15248185;15476587;15489334;15562030;15629439;15660230;15694177;15824850;16014383;16210410;16344560;16583221;16602701;16681433;16893177;16932897;17023519;17043047;17195227;17229666;17242729;17253930;17395561;17516619;17563703;17719863;17922851;18029348;18037100;18158785;18160010;18328985;18422967;18455459;18469019;18496130;18500657;18523927;18572267;18579124;18605934;18665784;18724009;18769922;18940312;19012630;19056867;19084045;19303062;19335222;19419944;19423565;19453261;19500388;19631305;19641839;19729429;19744961;19751416;19751417;19856264;19860546;19874193;19884277;19888898;19931660;20048161;20139978;20175736;20231843;20301329;20345388;20355242;20379614;20558539;20634292;20809279;20828673;20888271;20924064;20977932;21168482;21179104;21191615;21289095;21402707;21419245;21558934;21713451;21886157;21956185;22001757;22024719;22154904;22167380;2220817;22211102;22228761;22268729;22300680;22395920;22569225;22656046;22672431;22702738;22703652;22994584;23039266;23124780;23149655;23223140;23328739;23419404;23427088;23432910;2346496;23509830;23612078;23648065;23791648;23897810;24022022;24094242;24151614;24276437;2928120;3165380;3174660;3410475;3446011;3532105;3954357;6933471;7509208;7833929;8954059;9020858;9192863;9747027;9781036;9814472;9823315;9844100 249 B1ANL0;P05186 AB011406;AB012643;AB209814;ABBA01059818;ABBA01059819;ABBA01059820;ABBA01059821;ABBA01059822;AK097413;AK293184;AK295608;AK298085;AK312667;AL359815;AL592309;AMYH02000454;AMYH02000455;AMYH02000456;BC021289;BC066116;BC090861;BC110909;BC126165;BC136325;CH471134;CN425768;D87874;D87875;D87876;D87877;D87878;D87879;D87880;D87881;D87882;D87883;D87884;D87885;D87886;D87887;D87888;D87889;DA574668;DA625627;DA631560;M24428;M24439;NG_008940;NM_000478;NM_001127501;NM_001177520;X53750;X95994;XM_005245818;XM_005245820;XM_006710546 AAB59378;AAH21289;AAH66116;AAH90861;AAI10910;AAI26166;AAI36326;ADR83041;BAA32129;BAA88367;BAD93051;BAG35549;BAH11467;BAH12123;BAH12722;EAW94974;EAW94975;EAW94976;EAW94977;NP_000469;NP_001120973;NP_001170991;P05186;XP_005245875;XP_005245877;XP_006710609 Hs.75431 1660672;1691342;1741221;1744681;2159435;2174494;5014063 AL009634;D15S1390;GDB:178682;GDB:549217;RH93776;SHGC-74342;SHGC-74343 AP-TNAP;FLJ40094;FLJ93059;HOPS;MGC161443;MGC167935;TNAP;TNSALP APTNAP;OTTHUMP00000002971;OTTHUMP00000002972;alkaline phosphatase liver/bone/kidney isozyme;alkaline phosphatase, tissue-nonspecific isozyme;alkaline phosphomonoesterase;glycerophosphatase;liver/bone/kidney-type alkaline phosphatase;tissue-nonspecific ALP APPROVED protein-coding ENSG00000162551 HGNC:438 01377 146300;171760;241500;241510 REVIEWED 1314395 ALPP alkaline phosphatase, placental There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme, also referred to as the heat stable form, that is expressed primarily in the placenta although it is closely related to the intestinal form of the enzyme as well as to the placental-like form. The coding sequence for this form of alkaline phosphatase is unique in that the 3' untranslated region contains multiple copies of an Alu family repeat. In addition, this gene is polymorphic and three common alleles (type 1, type 2 and type 3) for this form of alkaline phosphatase have been well characterized. [provided by RefSeq, Jul 2008] 2 2 2 q37 227007506 227011757 + 233243348 233247599 + 232378534 232382889 + 1580863;6480464;6907045 11124260;11278620;11352565;11857742;11937510;11938765;12081485;12372831;12477932;12493773;12616539;12851398;1321014;14595869;15489334;15715171;15815621;15907827;15946677;16303743;16344560;16431676;16815919;16893177;17000644;1730777;18416535;18752324;18775313;18802949;19450995;19570815;19574883;19595020;2017684;20299338;20360068;20655896;20663553;20693656;2133555;21516013;2153284;21692598;21868091;21910833;21939286;21963094;22190034;22268729;22333159;22641346;24019514;24043717;24296104;24332808;2891112;3001717;3042787;3422741;3443302;3459156;3461452;3512548;6651840 250 P05187 ABBA01002021;AC068134;AF217992;AK075432;AK312931;AMYH02005985;BC009647;BC068501;BC094743;CH471063;DA851165;HC006778;M12551;M13077;M14169;M14170;M19159;M19161;NG_012189;NM_001632;XM_005246439 AAA51705;AAA51706;AAA51708;AAA51709;AAA51710;AAC97139;AAH09647;AAH68501;AAH94743;AAY24087;BAG35774;CBH19195;EAW70991;NP_001623;P05187;XP_005246496 Hs.284255 1740959;1741473;1742941;1795354;2120652;5119713 A002R47;ALPP_38;GDB:176648;GDB:180439;GDB:181234;GDB:216786 ALP;FLJ61142;PALP;PLAP;PLAP-1 OTTHUMP00000164354;Regan isozyme;alkaline phosphatase Regan isozyme;alkaline phosphatase, placental (Regan isozyme);alkaline phosphatase, placental type;alkaline phosphomonoesterase;glycerophosphatase;placental alkaline phosphatase 1 APPROVED protein-coding ENSG00000163283 HGNC:439 171800 REVIEWED 1347925 ALPPL2 alkaline phosphatase, placental-like 2 There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008] 2 2 2 q37 227035760 227039632 + 233271552 233275424 + 232406842 232410714 + 1580863;6480464;6907045;8554872 10471145;11124260;11937510;12372831;12477932;15489334;15815621;1581814;16344560;16412386;17009260;1722150;1730777;2009524;20360068;2153284;2162249;2171580;21963094;2297757;23467613;2578098;2745460;2834730;2921344;3001717;3042787;3387245;3422741;3443302;3459156;3461452;3512548;3519002;3674755;6651840;6814793;7166303;9823315 251 P10696;Q9UIL6 AB012642;ABBA01002020;AC068134;AI982769;AK293017;AMYH02005985;BC014139;CH471063;CS223387;DB194270;J03252;J04948;M19160;NM_031313;X07247;X53279;X55958 AAA51700;AAA51707;AAA98616;AAH14139;AAY24088;BAA88366;BAF85706;CAA30232;CAA37374;CAA39425;CAJ46933;EAW70994;EAW70995;EAW70996;NP_112603;P10696 Hs.333509 1741473;1847238;5119713 D2S2633;GDB:180439;GDB:181234 ALP-1;ALPG;ALPPL;GCAP Nagao isozyme;OTTHUMP00000164356;PLAP-like;alkaline phosphatase Nagao isozyme;alkaline phosphatase, placental-like;germ cell alkaline phosphatase;placental alkaline phosphatase-like;placental-like alkaline phosphatase;testicular and thymus alkaline phosphatase APPROVED protein-coding ENSG00000163286 HGNC:441 01380 171810 REVIEWED 1346648 ALPPP alkaline phosphatase, pseudogene 11352565 260330 AF307337 HGNC:14016 1321241 ALS2 amyotrophic lateral sclerosis 2 (juvenile) The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 2 2 2 q33.1 196316786 196398012 - 202564986 202645895 - 201700263 201781172 - 1599080;1580863;6480464;6907045;7240710;8554872;8699517 11586297 10997877;11586298;11687798;12138710;12145748;12168954;12477932;12601111;12837691;12866199;12919135;14668431;14676054;14702039;14970233;15247254;15324660;15342556;15371724;15388334;15489334;15579468;16049005;16085057;16249884;16670179;17239822;17698795;17955197;18523452;18810511;19023603;19122027;20301421;20301623;20379614;21890473;21907703;23282280;23383273;24315819;24562058;8889548;9889004;9933298 57679 A8K4R4;B3KPJ0;H0Y696;J3KQ33;J3KQ43;Q96Q42 AB046783;AB053305;AB053306;ABBA01062545;AC007242;AC007279;AF391100;AK023024;AK056413;AK291029;AMYH02005550;BC029174;BC071576;BM560426;BM978733;BP348546;BU623061;CH471063;NG_008775;NM_001135745;NM_020919;XM_005246709;XM_005246710;XM_006712654;XM_006712655 AAH29174;AAH71576;AAL14103;AAX93181;AAY15058;BAB13389;BAB14362;BAB69014;BAB69015;BAF83718;BAG51702;EAW70291;EAW70292;EAW70293;NP_001129217;NP_065970;Q96Q42;XP_005246766;XP_005246767;XP_006712717;XP_006712718 Hs.471096;Hs.621812 1337671;1678379;1728835;1784008;1784312;2118911;2153186;2218988;5121733 ALS2__4284;D2S2309;G31879;G31881;G54487;RH12092;RH92914;SHGC-143239;SHGC-79895 ALS2CR6;ALSJ;FLJ31851;KIAA1563;MGC87187;PLSJ IAHSP;OTTHUMP00000205832;OTTHUMP00000206119;OTTHUMP00000206122;OTTHUMP00000224839;alsin;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein;amyotrophic lateral sclerosis 2 protein APPROVED protein-coding ENSG00000003393 HGNC:443 05893 205100;606352;606353;607225 REVIEWED 1605837 ALS2CL ALS2 C-terminal like ENCODES a protein that exhibits identical protein binding; INVOLVED IN endosome organization; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic membrane-bounded vesicle (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; calcitriol; copper(2+) sulfate 3 3 3 p21.31 46648229 46672945 - 46710485 46735194 - 46668995 46693704 - 6480464;8554872 12477932;14702039;15388334;16344560;17239822;20657180;21906983;23425335;8889548 259173 G5E9N5;H7C0M4;Q60I27 AB107015;ABBA01024712;AC104304;AC134504;AF235535;AK074118;AK092455;AK093844;AK096091;AK097225;AK126505;AK131270;AK131273;AL832132;AL832203;AL833107;AMYH02006673;BC042906;BC061883;BC075825;BC109233;BU685010;CH471055;CR627258;DA242202;DB350037;NM_001190707;NM_147129;NM_182775;NR_033815;XM_005265025;XM_006713088;XM_006713089;XM_006713090;XM_006713091;XM_006713092;XM_006713093;XM_006713094;XM_006713095;XM_006713096;XR_427263;XR_427264;XR_427265 AAH42906;AAH61883;AAH75825;AAI09234;AAI56526;AAI72558;AAK13665;BAB84944;BAC03895;BAC04237;BAC86572;BAD18448;BAD18450;BAD51817;CAH10367;EAW64775;EAW64776;EAW64777;EAW64778;EAW64779;EAW64780;NP_001177636;NP_667340;NP_877576;Q60I27;XP_005265082;XP_006713151;XP_006713152;XP_006713153;XP_006713154;XP_006713155;XP_006713156;XP_006713157;XP_006713158;XP_006713159 Hs.517937 1681290;1763889;2124449 RH98898;SHGC-147558;STS-N49393 DKFZp686P238;MGC129698;RN49018 ALS2 C-terminal-like protein;OTTHUMP00000158857;OTTHUMP00000209941;OTTHUMP00000209946 protein-coding ENSG00000178038 HGNC:20605 10643 612402 VALIDATED 1345082 ALS2CR11 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH pirinixic acid; bisphenol A (ortholog) 2 2 2 q33.1 196104082 196235806 - 202352144 202483905 - 201487232 201619182 - 6480464;8554872 11586298;11827452;12477932;14702039;15489334;15815621;16189514 151254 Q53TS8 AB053313;ABBA01062542;ABBA01062543;ABBA01062544;ABBA01062545;AC007282;AI754862;AK058080;AK097651;AL833429;AMYH02005549;AMYH02005550;BC030659;BE502681;BG701187;BG773299;BX648732;CH471063;DB525255;NM_001168216;NM_001168217;NM_001168221;NM_152525;XM_005246347;XM_006712331;XM_006712332;XM_006712333;XM_006712334;XM_006712335;XM_006712336;XR_427075 AAH30659;AAY14693;BAB69021;BAB71654;BAC05132;EAW70277;EAW70278;EAW70279;EAW70280;NP_001161688;NP_001161689;NP_001161693;NP_689738;Q53TS8;XP_005246404;XP_006712394;XP_006712395;XP_006712396;XP_006712397;XP_006712398;XP_006712399 Hs.335788 1659200;1728801;2113920;2119307;2127186;2138973;2165543 AB070072;D2S2731;G54441;RH15616;RH17492;RH46527;STS-N48800 DKFZp686H0636;FLJ25351;FLJ40332 OTTHUMP00000163728;OTTHUMP00000206610;OTTHUMP00000206611;OTTHUMP00000206612;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein protein-coding ENSG00000155754 HGNC:14438 08687 VALIDATED 1343894 ALS2CR12 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 FOUND IN outer dense fiber (inferred); sperm fibrous sheath (inferred); sperm flagellum (inferred); INTERACTS WITH cadmium atom; flutamide (ortholog); phenobarbital (ortholog) 2 2 2 q33.1 195904962 195973949 - 202153147 202222101 - 201288362 201357398 - 1580863;6480464 11586298;12477932;16189514;17207965;17474147;18649358;19060904;19692168;19773279;20379614;21048031;21983787;24390342;8889548 130540 A8K8B8;C9JTY0;C9JZS0;H7C1T5;Q96Q35 AB053314;ABBA01062539;AC007256;AK124115;AK292283;AMYH02005549;BC031603;BX095441;CA314586;CD703925;CH471063;DB034999;DB054409;NM_001127391;NM_001289993;NM_139163;NR_110620;XM_006712272;XM_006712273;XM_006712274;XM_006712275 AAH31603;AAY24226;ADQ31789;BAB69022;BAF84972;EAW70267;EAW70268;EAW70269;EAW70270;NP_001120863;NP_001276922;NP_631902;Q96Q35;XP_006712335;XP_006712336;XP_006712337;XP_006712338 Hs.107944 1700820;5123604 RH104035;RH16289 OTTHUMP00000163724;OTTHUMP00000163725;OTTHUMP00000206582;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein protein-coding ENSG00000155749 HGNC:14439 12444 VALIDATED 1353075 ALS2CR14 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14 11586298 65068 Q96Q33 AB053316;NM_178231 HGNC:14441 1314457 ALS2CR16 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16 q33.2 11586298;12477932;14702039 130029 AB053318;AC010900;AK130065;BC132950;BC137214;CR597362;XM_001134431;XM_001134454 AAI32951;AAI37215;BAB69026;BAC85289;Q6ZP36;XP_001134431;XP_001134454 Hs.604686;Hs.648846 MGC164581 protein-coding HGNC:14443 10644 1349713 ALS5 amyotrophic lateral sclerosis 5 ASSOCIATED WITH Amyotrophic Lateral Sclerosis 5 (inferred) 7240710 255 HGNC:446 602099 1343013 ALS3 amyotrophic lateral sclerosis 3 (autosomal dominant) ASSOCIATED WITH Amyotrophic Lateral Sclerosis 3 (inferred) 7240710 11706389 253 1334699;1336976 D18S1109;D18S846 HGNC:444 606640 1352384 ALX3 ALX homeobox 3 This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108849991 108860317 - 110602997 110613322 - 110060375 110070700 - 1580863;6480464;7240710;8554872;8699517 11807986;12477932;15226305;16825292;19409524;20634891;22082156;22106187;22496059;22589738;7991607 257 O95076 ABBA01068385;AF008202;AF008203;AL160006;AMYH02001719;AMYH02001720;BC112007;BC113428;CH471122;NG_012039;NM_006492 AAD01417;AAD01418;AAI12008;AAI13429;EAW56430;NP_006483;O95076 Hs.669953 2123174 SHGC-75288 FND;FND1;MGC138212;MGC141988 OTTHUMP00000013372;aristaless-like homeobox 3;frontonasal dysplasia;homeobox protein aristaless-like 3;proline-rich transcription factor ALX3 APPROVED protein-coding HGNC:449 16190 136760;606014 REVIEWED 732877 ALX1 ALX homeobox 1 The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008] 12 12 12 q21.31 85337491 85358941 + 85673713 85695562 + 85279930 85301784 + 734689;1580863;6480464;7240710;8699517;8554872 8673125 12477932;12929931;15489334;16189514;18029348;18976975;20398657;20451171;20932315;23288509;24081945;7592751;7690966;8756334;9753625;9847249 8092 Q15699;V9HWA7 ABBA01053444;ABBA01053445;AC127069;AC131532;AC133794;AJ558236;AMYH02026873;BC010923;CH471054;EU794597;NG_023202;NM_006982;U31986;XM_005269165 AAB08960;AAH10923;ACJ13651;CAD90155;EAW97398;NP_008913;Q15699;XP_005269222 Hs.41683 2129799;2163608;2219046 CART1__4510;RH68918;STS-N20106 CART-1;CART1;FND3;HEL23 ALX homeobox protein 1;OTTHUMP00000242207;cartilage paired-class homeoprotein 1;epididymis luminal protein 23 APPROVED protein-coding ENSG00000180318 HGNC:1494 03316 601527;613456 REVIEWED 1320963 ALX4 ALX homeobox 4 This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009] 11 11 11 p11.2 44429565 44479005 - 44282278 44331735 - 44260728 44310185 - 1580863;6480464;7240710;8554872;8699517 11017806;11106354;11137991;11347906;11696550;14702039;15852040;16319823;16415175;16582099;17293876;19336475;19692347;19783719;20140221;20211142;20301307;20625746;20634891;20879858;22496059;22829454;23401352;24037716;24165912;8558565;8644736;9847249 60529 Q9H161 AB058691;ABBA01060770;AC103854;AF294629;AF308825;AJ279074;AJ404888;AK092346;AMYH02024683;CH471064;NG_015809;NM_021926;XR_242817 AAG23961;AAI66622;AAK38835;BAB47417;CAC15060;CAC15120;EAW68066;NP_068745;Q9H161 Hs.436055 2168987 D11S2375 CRS5;FND2;FPP;KIAA1788;PFM;PFM1;PFM2 OTTHUMP00000233417;aristaless-like homeobox 4;homeobox protein aristaless-like 4;homeodomain transcription factor ALX4 APPROVED protein-coding ENSG00000052850 HGNC:450 05661 605420;609597;613451;615529 REVIEWED 1322669 ALYREF Aly/REF export factor The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 76449564 76453306 - 79845711 79849464 - 81887835 81891586 - 1580863;6480464 10488337;11032328;11118221;11546873;11546874;11675789;11707413;11979277;11991638;12176931;12226669;12438613;12477932;12944400;14667819;15047853;15489334;15782174;15833825;15998806;16196087;16210410;16314458;17190602;17196963;17229714;17609285;17620599;17643375;18029348;18243119;18562279;18974867;19056867;19110458;19165146;19264631;19322201;19369354;19553338;19586903;19710015;19738201;20000738;20015986;20360068;20431927;20981025;21139048;21145461;21282530;21329510;21799930;21890473;21906983;21907836;21963094;22053931;22145905;22178446;22268729;22446626;22505724;22586326;22623428;22761374;22939629;22952844;22990118;23000965;23084401;23125841;23151878;23222130;23242234;23297349;23398456;23443559;23463506;23637401;23826332;24250222;24457600;24550725;24583282;24816145;9119228;9731529;9952027 10189 E9PB61;Q86V81 ABBA01019651;AC137723;AC145207;AF047002;AF086513;AMYH02034143;BC052302;BU624466;CH471099;NM_005782;XM_005256333 AAD09608;AAH52302;ACE86440;ACE87115;EAW89699;NP_005773;Q86V81;XP_005256390 Hs.534385 1796770;2107829;2136473;2137863;2147142;2147438;2220396 ALY_7964;D17S723;RH44900;RH65274;RH65676;SIRT7_1731;UniSTS:481341 ALY;ALY/REF;BEF;REF;THOC4;tho4 OTTHUMP00000218275;THO complex 4;THO complex subunit 4;ally of AML-1 and LEF-1;bZIP enhancing factor;bZIP-enhancing factor BEF;transcriptional coactivator Aly/REF APPROVED protein-coding ENSG00000183684 HGNC:19071 09168 604171 REVIEWED 735888 AMACR alpha-methylacyl-CoA racemase This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011] 5 5 5 p13 33875521 33896657 - 33987091 34008220 - 33986986 34008115 - 1580863;2315628;2315635;2315632;2315633;2315629;2315630;6480464;6907045;7240710;8554872;8699517 14707866;15941950;16315020;18343427;18648853;20003233 10655068;10770938;11060344;11076863;11926890;11956072;12131161;12213712;12374981;12438241;12477932;12673556;12810662;14612535;14702039;14960364;15323145;15330799;15489336;15880524;15941951;16344560;16381901;16424894;16491480;16506014;16681682;16756494;17067752;17222253;17525630;17680641;17683075;17684125;18032455;18080842;18279392;18500268;18537123;18577240;18665038;18676680;18712414;18785113;18788852;18835622;19064571;19068396;19148275;19170196;19384190;19459159;19605815;19625176;19638170;19692168;20102405;20178365;20189848;20503447;20636793;20664974;20821052;20875727;20877624;20945498;21176184;21195844;21441411;21457159;21963094;22009118;22078291;22248277;22507319;22542076;22593005;22782380;23000965;23235347;23376124;23434146;23797726;24004067;24119561;24250222;24383053;24705308;7649182;8125298;9307041 23600 D6RB81;Q9UHK6;V9GYP4;V9GYU9;V9GZ45 AA969512;ABBA01066761;AC139783;AF047020;AF158378;AJ130733;AK000912;AK022765;AK222831;AK225749;AK292988;AL545355;AL571115;AMYH02011144;AY330488;AY330489;AY935981;BC009471;BG708726;BI550368;BQ941482;BT007193;CH471118;DA156454;EF560721;FJ498906;FJ498907;FJ498908;NG_016211;NM_001167595;NM_014324;NM_203382 AAD10205;AAF22610;AAH09471;AAP35857;AAQ67234;AAQ94259;AAY16192;ABQ59031;ACL67853;ACL67854;ACL67855;BAD96551;BAF85677;BAG50838;BAG51110;CAB44062;CAL37503;EAX10815;EAX10816;EAX10817;EAX10818;NP_001161067;NP_055139;NP_976316;Q9UHK6 Hs.508343 2116940;2137405;2217006 AMACR_3561;RH45195;WI-16117 CBAS4;RACE;RM 2-methylacyl-CoA racemase;AMACRD;OTTHUMP00000115916;OTTHUMP00000115917;OTTHUMP00000219978;OTTHUMP00000219979;OTTHUMP00000219980 APPROVED protein-coding ENSG00000242110 HGNC:451 05134 214950;604489;614307 REVIEWED 735479 AMBP alpha-1-microglobulin/bikunin precursor This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008] 9 9 9 q32-q33 87469703 87488044 - 116822407 116840752 - 114060127 114078472 - 1580863;6480464;6904148;6904149;6904147;6904155;6904143;6904156;6904142;6904219;6904218;8554872 14592616;14621078;15533056;15710155;16622176;17765145;18046670;19205372;8963945 10097787;10447938;10631976;10727951;10878892;11036097;11058759;11807786;11877257;11883904;12477932;12817471;1385302;14516400;14597629;14718574;15037615;15452109;15489334;15498571;15653696;16140784;16364318;16407257;16502470;16712791;16916777;1694784;1696200;1697852;1700638;1708673;17087727;17115277;17146627;1714898;17207965;17320766;17584166;17633530;17766242;17998887;18226914;18448433;18624398;18649735;1898736;19056867;19636634;19879940;19913121;19914646;20602574;20628086;20954860;21067798;21332340;21988832;22096585;22595828;22684072;23324582;23414180;23642167;23801333;23841057;23919851;24012674;2408638;24135868;2413856;2419908;24211404;2428011;2430261;2465147;2472935;2482577;3663330;3890890;6164372;6171497;6196366;6198962;72071;7506257;7513643;7519849;7528952;7533162;7535251;7682553;9183005;9472382;9566199;9570066;9671439 259 B7Z8R6;P02760;S4R3Y4;S4R471 ABBA01042678;AK290837;AK303795;AK310776;AK310791;AL137850;AMYH02021515;AY544123;BC041593;CB141734;CH471090;CS208015;HB867200;M11562;M88249;NM_001633;X04225;X04494;X53686;X54816;X54817;X54818 AAA59194;AAA59196;AAH41593;AAT11154;ADQ32920;BAF83526;BAH14052;CAA27803;CAA28182;CAA37726;CAA38585;CAA38586;CAA38587;CAJ44933;CBF57586;EAW87404;NP_001624;P02760 Hs.436911 1660986;2190831 AMBP;STS-M88249 A1M;EDC1;HCP;HI30;ITI;ITIL;UTI IATIL;ITILC;OTTHUMP00000021967;alpha 1 microglobulin/bikunin;alpha-1-microglobulin/bikunin;bikunin;complex-forming glycoprotein heterogeneous in charge;growth-inhibiting protein 19;inter-alpha-trypsin inhibitor light chain;protein HC;trypstatin;uristatin;uronic-acid-rich protein APPROVED protein-coding ENSG00000106927 HGNC:453 01467 176870 REVIEWED 736409 AMBN ameloblastin (enamel matrix protein) This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011] 4 4 4 q21 68816162 68831378 + 71457975 71473005 + 70592258 70607288 + 1580863;6480464;8554872 10634581;10946765;11054529;11330937;12477932;15342556;17331365;18353005;18781068;19661317;20043904;20831578;20854943;21149578;21761392;23782691;23790503;9032019;9126491 258 Q546D7;Q9NP70 ABBA01022930;ABBA01022931;AC134919;AF209780;AF219994;AF263464;AJ537437;AK314918;AMYH02009421;AY009116;AY009117;AY009118;AY009119;AY009120;AY009121;AY009122;AY009123;AY009124;BC106931;BC106932;BP248666;CH471057;NM_016519 AAF37355;AAF73048;AAG27036;AAG35772;AAI06932;AAI06933;BAG37429;CAD60938;EAX05623;EAX05624;NP_057603;Q9NP70 Hs.272396 2110255 AMBN_8200 OTTHUMP00000160362;OTTHUMP00000219136;ameloblastin APPROVED protein-coding ENSG00000178522 HGNC:452 03160 601259 REVIEWED 1348845 AMCD2B arthrogryposis multiplex congenita, distal, type 2B ASSOCIATED WITH Distal arthrogryposis type 2B (inferred) 7240710 9012416 8044 HGNC:455 601680 1604349 AMBRA1 autophagy/beclin-1 regulator 1 INVOLVED IN autophagy (inferred); cell differentiation (inferred); negative regulation of cell proliferation (inferred); FOUND IN cytoplasm; axoneme (ortholog); INTERACTS WITH copper(2+) sulfate; formaldehyde; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 p11.2 46566035 46760894 - 46417962 46615619 - 46396412 46594069 - 6480464 11214970;12107410;12477932;12938929;14702039;16196087;16344560;16949367;17589504;17603510;17622796;19295130;19615732;20360068;20562859;20694011;20711182;20921139;21139048;21145461;21358617;21753002;21890473;21906983;21963094;21987572;22053931;22190034;22441670;22505724;22797925;23000965;23069654;23429496;23524951;23551272;23974797;24337577;24879156;24980959 55626 E9PL55;H0YE34;Q9C0C7 AB051523;ABBA01060737;ABBA01060738;ABBA01060739;ABBA01060740;ABBA01060741;ABBA01060742;ABBA01060743;ABBA01060744;ABBA01060745;ABBA01060746;AC024293;AC115097;AC116021;AC127035;AK000301;AK023197;AK057896;AK302808;AK304530;AL137611;AL834190;AMYH02024701;AMYH02024702;AMYH02024703;AMYH02024704;AMYH02024705;AMYH02024706;AMYH02024707;AMYH02024708;BC045609;BF589843;CA389399;CH471064;DB070055;DB232750;DQ870924;KC877408;KF455381;NM_001267782;NM_001267783;NM_001300731;NM_017749;XM_005253009;XM_005253011;XM_005253012;XM_005253014;XM_006718259;XM_006718260 AAH45609;ABI74670;BAA91067;BAB14457;BAB21827;BAG64009;BAG65331;EAW67996;EAW67997;EAW67998;EAW67999;EAW68000;EAW68001;EAW68002;NP_001254711;NP_001254712;NP_001287660;NP_060219;Q9C0C7;XP_005253066;XP_005253068;XP_005253069;XP_005253071;XP_006718322;XP_006718323 Hs.654644 1655402;1655404;1666386;1677340;1683882;1705770;1726737;1731535;2110977;2127503;2147119;5022200 A001T07;D11S1252;D11S1271E;G19616;G30960;G62756;L18426;RH28603;RH28670;RH48957;SHGC-78672;WI-14603 DCAF3;FLJ20294;KIAA1736;MGC33725;WDR94 DDB1 and CUL4 associated factor 3;OTTHUMP00000233089;OTTHUMP00000233090;OTTHUMP00000233091;OTTHUMP00000233092;OTTHUMP00000233133;WD repeat domain 94;activating molecule in BECN1-regulated autophagy protein 1;activating molecule in beclin-1-regulated autophagy protein-coding ENSG00000110497 HGNC:25990 10975 611359 VALIDATED 1343154 AMCN arthrogryposis multiplex congenita, neurogenic ASSOCIATED WITH Arthrogryposis multiplex congenita neurogenic type (inferred) 7240710 9345093 261 HGNC:456 208100 1351440 AMD1 adenosylmethionine decarboxylase 1 This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y. [provided by RefSeq, Dec 2013] 6 6 6 q21 111942595 111963525 + 111135823 111216916 + 110814621 110895713 + 1578320;1580863;6480464;6907045;7242911;7242912;7242932;7242425;7244193 10430362;10712236;13678416;1415709;2292587;23073625 10029540;10378277;10570962;10574985;10829027;11583147;11583148;11741992;12477932;12600205;1400498;14574404;14718534;1527020;15489334;15521072;16344560;16941339;17069747;17259861;18548481;19053272;19161160;1917972;19322201;19527050;19661236;20215859;20615890;21134486;21139048;21890473;21906983;22008221;22496743;23260169;2460457;2687270;7634128;7789170;8027046;8353934;8416975 262 A6NNH3;B4DZ60;P17707;Q5VXN5;Q6N0B2 AA808049;ABBA01026103;ABBA01026104;ABBA01026105;ABBA01026106;ABBA01026107;AJ420527;AJ420567;AK026205;AK125644;AK130474;AK300330;AK302761;AK304351;AK316471;AL357515;AL365206;AL832698;AMYH02014291;AMYH02014292;AMYH02014293;AMYH02014294;AU134914;BC000171;BC041345;BX640599;CH471051;M21154;M88003;M88004;M88005;M88006;NM_001287214;NM_001287215;NM_001287216;NM_001634;NR_109768;S47803;Z84480 AAA51716;AAD14903;AAH00171;ABM85036;BAG62078;BAG63972;BAG65194;BAH14842;CAE45705;CAI46113;EAW48307;EAW48308;EAW48309;NP_001274143;NP_001274144;NP_001274145;NP_001625;P17707 Hs.159118 1687103;1702412;2150560;2157342;2166495;2187495;5016903;5037552;5109281 D1S1425;D6S2429;D8S2279;GDB:192496;RH46508;RH46760;RH46841;RH98425;SGC30337 AMD;DKFZp313L1234;FLJ26964;SAMDC ADOMETDC;OTTHUMP00000017012;OTTHUMP00000017013;OTTHUMP00000017014;S-adenosylmethionine decarboxylase 1;S-adenosylmethionine decarboxylase proenzyme APPROVED protein-coding ENSG00000123505 HGNC:457 01622 180980 REVIEWED 7204927 AMD1P1 adenosylmethionine decarboxylase 1 pseudogene 1 10 10 10 p12.31 20325076 20326124 + 20638981 20640029 + 20350052 20351100 + 100133024 ABBA01034509;AL353790;AMYH02022407;NG_022164 1340630 D10S595 pseudo HGNC:44898 INFERRED 1603049 AMDHD2 amidohydrolase domain containing 2 ENCODES a protein that exhibits N-acetylglucosamine-6-phosphate deacetylase activity; INVOLVED IN carbohydrate metabolic process (inferred); metabolic process (inferred); N-acetylglucosamine metabolic process (inferred); PARTICIPATES IN amino sugar metabolic pathway; nucleotide sugar metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH benzene; cadmium atom; copper(2+) sulfate 16 16 16 p13.3 2785299 2795891 + 2570363 2580955 + 2520362 2530954 + 6480464;6907045;8554872 10810093;12477932;15146197;18854154;21139048;21906983;24816145 51005 H3BSD5;H3BSV9;H3BT49;H3BTE3;H3BTZ6;Q9Y303 AB209351;ABBA01030250;ABBA01030251;AC093525;AF132948;AK296877;AK300747;AMYH02031254;BC018734;CH471112;CN362870;HB969100;HD026510;NM_001145815;NM_015944 AAD27723;AAH18734;BAD92588;BAG59439;BAG62416;CBG19170;CBV32525;EAW85498;EAW85499;EAW85500;NP_001139287;NP_057028;Q9Y303 Hs.740430 1850979;1854241;2166956;5020988;5022578;5022651 D11S2921;D1S1423;D22S958;RH66735;SHGC-61364;STS-AA004808 CGI-14 OTTHUMP00000159090;amidohydrolase domain-containing protein 2;glcNAc 6-P deacetylase;putative N-acetylglucosamine-6-phosphate deacetylase protein-coding ENSG00000162066 HGNC:24262 13034 VALIDATED 1347122 AMDM acromesomelic dysplasia, Maroteaux type ASSOCIATED WITH Acromesomelic dysplasia, Maroteaux type (inferred) 7240710 9634515 264 HGNC:459 602875;615923 1603900 AMDHD1 amidohydrolase domain containing 1 ENCODES a protein that exhibits hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (inferred); imidazolonepropionase activity (inferred); metal ion binding (inferred); INVOLVED IN cellular nitrogen compound metabolic process (inferred); histidine catabolic process (inferred); histidine catabolic process to glutamate and formamide (inferred); PARTICIPATES IN histidine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; copper(2+) sulfate 12 12 12 q23.1 96005967 96028689 + 96337071 96362370 + 95943293 95968592 + 6480464;6907045;8554872 12477932;14702039;15221005;15489334;20379614;21906983 144193 B3KVC5;H0YI62;Q96NU7 AB075878;ABBA01053320;AC126174;AK054617;AK122802;AK290828;AL833144;AMYH02026991;AMYH02026992;AMYH02026993;BC029146;CH471054;NM_152435 AAH29146;ADZ15926;BAB70775;BAD38660;BAF83517;BAG53737;EAW97552;EAW97553;NP_689648;Q96NU7 Hs.424907 2109511 MGC35366__7713 HMFT1272;MGC35366 OTTHUMP00000243559;amidohydrolase domain-containing protein 1;probable imidazolonepropionase protein-coding ENSG00000139344 HGNC:28577 14605 VALIDATED 1350121 AMDP1 adenosylmethionine decarboxylase pseudogene 1 X X;Y X;Y q28 and Yq12 155214191 155215759 - 155057756 155059324 - 155828093 155829661 - 7789170 263 ABBA01028631;AJ271735;AMYH02040902;NG_001073;U02035 1702412 GDB:192496 AMD;AMD2;AMDPX AMDPY pseudo HGNC:460 INFERRED 1343944 AMELY amelogenin, Y-linked This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008] Y Y Y p11.2 2473979 2482088 + 6733959 6742068 - 6865918 6874027 - 1580863;6480464;8699517 12477932;12815422;15489334;17189292;1734713;17588179;18029348;18067069;2004775;2037302;22669323;23623014;23948316;2737677 266 Q99218 ABBA01034871;AC013412;AY487421;BC069138;BC074976;BC074977;CH471163;M55419;M86933;NG_008011;NM_001143;X14439 AAA51718;AAA62827;AAH69138;AAH74976;AAH74977;AAR39431;CAA32612;EAW59129;NP_001134;Q99218 Hs.1238 1728909;1744873;1776961;1797068;2128593;2144780;5017959;5022816;5095104;5095106;5095108;5095110;5095112 AMELX;AMELY-1;AMELY-2;AMELY-3;AMELY-4;AMELY-5;AMELY-6-1;AMELY-6-2;G38362;G42692;GDB:574132;SHGC-36989;SHGC-5464 AMGL;AMGY OTTHUMP00000033222;OTTHUMP00000039060;amelogenin (Y chromosome);amelogenin, Y isoform APPROVED protein-coding ENSG00000099721 HGNC:462 02462 410000 REVIEWED 735379 AMELX amelogenin, X-linked This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X X p22.31-p22.1 15438990 15446338 + 11311533 11318881 + 11293413 11300761 + 1300370;1599092;1300281;6480464;7240710;8554872;8699517 11406633;15721149;8406474 11839357;11852235;11877393;11922868;11922869;12477932;12613657;1483698;15111628;15489334;15772651;16674683;1734713;17645864;17688372;18029348;18042988;18067069;18434575;18701806;18714142;18781068;19025992;19083859;1916828;19913121;19966041;20012165;2004775;2059881;20628086;20929860;21081224;21114591;21514271;23251683;23525533;23733431;23790503;23948316;24167599;2509010;2737677;7782077;8118759;8254123;9041053 265 Q99217 ABBA01070900;ABBA01070901;AC002366;AF436849;AMYH02038854;AY040206;BC069118;BC074951;CH471074;M55418;M86932;NG_012040;NG_012494;NM_001142;NM_182680;NM_182681;S67147;X14440 AAA51717;AAA62826;AAB29184;AAC21581;AAH69118;AAH74951;AAK77213;AAL30432;CAA32613;EAW98792;EAW98793;EAW98794;NP_001133;NP_872621;NP_872622;Q99217 Hs.654436 1679774;1702906;1728909;1743711;1744867;1744869;1744873;1744877;1744879;1769050;1797068 AMELX;G42692;GDB:371402;GDB:574117;GDB:574121;GDB:574132;GDB:574144;GDB:574146;GDB:677393;RH46956;RH79902 AI1E;AIH1;ALGN;AMG;AMGL;AMGX OTTHUMP00000022906;OTTHUMP00000022907;amelogenesis imperfecta 1;amelogenin (X chromosome, amelogenesis imperfecta 1);amelogenin (amelogenesis imperfecta 1, X-linked);amelogenin, X isoform APPROVED protein-coding ENSG00000125363 HGNC:461 02313 300391;301200 REVIEWED 1606716 AMER1 APC membrane recruitment protein 1 The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010] X X X q11.2 63751829 63772456 - 63404997 63425624 - 64185117 64205744 - 6480464;7240710;8554872;8699517 11807859;14702039;15772651;16344560;17204608;17510365;17620295;17925383;18021721;18311776;18391980;18452086;18460646;18720004;19079258;19137020;19322201;19351817;19416806;19757195;19760609;20128690;20209645;20679664;20696052;20843316;20950377;20956941;21139048;21304492;21498506;22215675;22285752;22670894;22716240;22800892;23000965;23333300;23443559;24249259;24255178;24265322;24322982 139285 Q5JTC6 ABBA01066875;ABBA01066876;ABBA01066877;AK097146;AL355852;AL833759;AMYH02039596;CH471132;DA939151;EF186024;NG_021345;NM_152424;XM_005262241 ABM60755;BAC04964;EAX05415;NP_689637;Q5JTC6;XP_005262298 Hs.314225 1765253 SHGC-148743 FAM123B;FLJ39827;OSCS;RP11-403E24.2;WTX OTTHUMP00000196469;Wilms tumor gene on the X chromosome protein;Wilms tumor on the X;adenomatous polyposis coli membrane recruitment 1;family with sequence similarity 123B APPROVED protein-coding ENSG00000184675 HGNC:26837 06565 300373;300647 REVIEWED 1604720 AMER2 APC membrane recruitment protein 2 ENCODES a protein that exhibits phosphatidylinositol-4,5-bisphosphate binding; INVOLVED IN negative regulation of canonical Wnt signaling pathway; ectoderm development (ortholog); FOUND IN plasma membrane; INTERACTS WITH trichostatin A; valproic acid; cefaloridine (ortholog) 13 13 13 q12.13 6806916 6810113 - 25735817 25746426 - 25161679 25172288 - 6480464 12477932;14702039;15057823;15345747;15489334;16344560;20843316;22128170;22898821;22949735;8889548 219287 Q8N785;Q8N7J2 ABBA01007899;AK055049;AK055278;AK094378;AK098054;AK098343;AK098796;AL359757;AL832586;AL832627;AMYH02027718;BC032653;BC041392;BC045677;BM680074;CH471075;DA210701;NM_152704;NM_199138;XM_005266279;XM_005266280;XM_006719770 AAH32653;AAH41392;BAB70845;BAC05288;BAC05414;EAX08363;EAX08364;NP_689917;NP_954589;Q8N7J2;XP_005266336;XP_005266337;XP_006719833 Hs.528335;Hs.731897 1656057;1694682;1704700;1722453;1738369;1738371;1846574;1847167 D13S504E;D13S505E;G43527;G60154;RH15722;SHGC-79006;STS-H92893;STS-R17761 FAM123A;FLJ25477 OTTHUMP00000018143;OTTHUMP00000222591;family with sequence similarity 123A;hypothetical protein LOC219287 APPROVED protein-coding ENSG00000165566 HGNC:26360 08067 614659 VALIDATED 1601927 AMER3 APC membrane recruitment protein 3 ENCODES a protein that exhibits lipid binding (inferred); INVOLVED IN Wnt signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH copper(2+) sulfate; dibutyl phthalate (ortholog); pirinixic acid (ortholog) 2 2 2 q21.1 125047974 125060604 - 131513077 131525707 + 130755504 130768134 + 6480464;8554872 12477932;14702039;16344560;20843316;24251807 205147 C9J4B8;C9JS07;Q8N944 ABBA01019373;AC010984;AC140481;AK095696;AK289525;AK291424;AMYH02004798;BC025667;BC113445;BC113447;BC143806;CH471250;DA102742;DA318919;DA401709;DA500900;DA773233;NM_001105193;NM_001105194;NM_001105195;NM_152698 AAI13446;AAI13448;AAI43807;AAY24355;ADR83424;BAC04612;BAF82214;BAF84113;EAW51273;NP_001098663;NP_001098664;NP_001098665;NP_689911;Q8N944 Hs.369289 1689632;1740101;2120205;2162449 D2S2134;D2S2700;RH91129;WI-12461 FAM123C;FLJ38377 OTTHUMP00000162406;OTTHUMP00000204983;OTTHUMP00000204984;family with sequence similarity 123C;hypothetical protein LOC205147 APPROVED protein-coding ENSG00000178171 HGNC:26771 08241 VALIDATED 736161 AMH anti-Mullerian hormone Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which mediates male sexual differentiation. Anti-Mullerian hormone causes the regression of Mullerian ducts which would otherwise differentiate into the uterus and fallopian tubes. Some mutations in the anti-Mullerian hormone result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 2183289 2186248 + 2249113 2252072 + 2249114 2252073 + 1601182;1601180;1601181;1601183;1580863;2315637;2315638;2315652;2315639;6480464;6907045;7240710;8699517 1483695;16533786;17109858;17217166;17224152;19359032;19424576;19820206 11420127;11760020;11773638;12456604;12462075;12477536;12477932;12571168;12834017;14671196;14671316;14695376;14715867;14742691;14750901;15057824;15070957;15217995;15536161;15550498;15897891;16030171;16159935;16213847;16368745;16566934;16740653;16816803;16923748;17088539;17335955;17337470;17425826;17462637;17485437;17488788;1750488;17543956;17559842;17603052;17624337;17628551;17636279;17926161;17951406;18191888;18230658;18249372;18249391;18291376;18310677;18321493;18328480;18381582;18555223;18593767;18697861;18784351;18854109;18930199;18930217;19056816;19064572;19217095;19342396;19345350;19361798;19409547;19539910;19539911;19730683;19755162;19800062;19940443;20060112;20064870;20150576;20155783;20207725;20236105;2023927;20309569;20719830;20734064;20797901;20797903;20801125;20809108;20843948;20861221;20864412;21114374;21168856;21177311;21227938;21227943;21285453;21300348;21315333;21315336;21341396;21451424;21457958;21481373;21486417;21497340;21514585;21514928;21529798;21576079;21704216;21719005;21724534;21784736;21789206;21882017;21988832;22038452;22049172;22154766;22188863;22244782;22355044;22401810;22405597;22420235;22429116;22442264;22545082;22552379;22563903;22673409;22674205;22693172;22771030;22814098;22821432;22901847;22910001;22921911;22984527;23002694;23044647;23051961;2325025;23295284;23368705;23371438;23390860;23394782;23408576;23419927;23433069;23433830;23452339;23461296;23509105;23533225;23533229;23541317;23544102;23553200;23554429;23608780;23640374;23664458;23690308;23762215;23785020;23810163;23847299;23850305;23876536;23928669;23968732;24045871;24069435;24083876;24098470;24146295;24172648;24182412;24210790;24219729;24290000;24292596;24345579;24424371;24593938;24613539;24620523;24661732;24666685;2467567;24746743;24886254;24951363;3028714;3754790;8162013;8596488;8755541;8889695;8895659;9713320 268 K7EJU5;P03971 ABBA01002714;AC005263;AI791949;AMYH02035186;BC033218;BC049194;CH471139;K03474;NG_012190;NM_000479 AAA98805;AAC25614;AAH49194;EAW69397;NP_000470;P03971 Hs.112432 1795218;2131407;5125939 AMH;AMH_42;RH71348 MIF;MIS Mullerian inhibiting factor;Mullerian inhibiting substance;anti-Muellerian hormone;muellerian-inhibiting factor;muellerian-inhibiting substance APPROVED protein-coding ENSG00000104899 HGNC:464 02979 261550;600957 REVIEWED 1323068 AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012] 16 16 16 q21 40892193 40957463 - 56395364 56459450 - 56361452 56425538 - 1580863;6480464;6907045 10456327;11724934;11902125;12067203;12477932;12670940;12847084;12962414;14702039;15303277;15331598;15489334;16168377;16184720;16186510;16196087;16275660;16407162;1649192;16563432;16751776;16868077;16968747;16979136;16987818;17043353;17071500;17157811;17265125;17310145;17311810;17353931;17502376;17681147;17872946;18037895;18216283;18468998;18502753;18775313;18835813;19103148;19223579;19322201;19549727;19560420;19661182;19690564;19815544;19828134;19835843;19864457;19946888;20089858;20126661;20504226;20574759;21139048;21209460;21343306;21636303;21832065;21900206;21906983;21914798;21965653;21987572;22101235;22118674;22143767;22266900;22328510;22812524;22990118;23000965;23123110;23223569;23246001;23333620;23383273;23427266;23606741;23665563;23666464;23798571;23867461;23942235;24068323;24100225;24217618;24285545;24496447;24810856;24816145;24820123;7626106;8889549 267 H3BQM3;H3BRK9;H3BSK3;Q9UKV5;R4GNG2 AA767223;ABBA01025242;ABBA01025243;ABBA01025244;AC009102;AC092140;AF124145;AK023874;AMYH02032084;AMYH02032085;AMYH02032086;AMYH02032087;BC017043;BC051032;BC056869;BC069197;BX345849;BX409690;CA748782;CH471092;CQ834404;DQ582721;L35233;M63175;NM_001144;W60999;XM_005255889;XM_005255890 AAA36671;AAA79362;AAD56722;AAH17043;AAH56869;AAH69197;CAH05417;EAW82857;EAW82858;NP_001135;Q9UKV5;XP_005255946;XP_005255947 Hs.295137 1665663;1716435;1855805;2157656;2176791;5100562 D7S2301E;RH121398;RH70754;SHGC-60751;SHGC-60972;SHGC-61049 GP78;RNF45 AMF receptor, isoform 1;AMF receptor, isoform 2;E3 ubiquitin-protein ligase AMFR;OTTHUMP00000164316;RING finger protein 45;autocrine motility factor receptor;autocrine motility factor receptor, isoform 1;autocrine motility factor receptor, isoform 2 APPROVED protein-coding ENSG00000159461 HGNC:463 09130 603243 REVIEWED 1344740 AMICA1 adhesion molecule, interacts with CXADR antigen 1 ENCODES a protein that exhibits cell adhesion molecule binding; integrin binding; protein homodimerization activity; INVOLVED IN heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; monocyte extravasation; neutrophil chemotaxis; ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; tight junction; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cadmium atom 11 11 11 q23.3 115222323 115253688 - 118064442 118095809 - 118193727 118225094 - 6480464;8554872 10737800;12477932;12869515;12975309;14702039;15340161;15800062;16344560;18948633;19064666;20379614;21982860 120425 B3KUI3;E9PJJ4;E9PKK2;E9PLF9;E9PNS8;E9PR26;Q496M4;Q86YT9 ABBA01039714;AJ515553;AK057590;AK090409;AK094399;AK097285;AK298722;AK300851;AK301099;AMYH02025637;AP002800;AW804077;AY093686;AY093687;AY138965;AY358362;BC100794;BC100795;BC100796;BC100797;CH471065;DA090367;DC296115;EF444945;JA738745;JA738747;NM_001098526;NM_001286570;NM_001286571;NM_153206;NR_104479;XM_005271406;XM_005271407 AAI00795;AAI00796;AAI00797;AAI00798;AAM15730;AAM15731;AAN52117;AAQ88728;ACA05929;ACA05930;BAC03390;BAC04347;BAG53445;BAG60876;BAG62502;BAG62698;CAD56620;CCF77025;CCF77026;EAW67354;EAW67355;NP_001091996;NP_001273499;NP_001273500;NP_694938;Q86YT9;XP_005271463;XP_005271464 Hs.16291 1721413;1739599;2152582;2163481;2218214 AMICA__4295;D11S4050E;G59558;RH47232;STS-T86918 CREA7-1;CREA7-4;FLJ37080;Gm638;JAML;MGC118814;MGC118815 AMICA;OTTHUMP00000234548;OTTHUMP00000234549;OTTHUMP00000234550;OTTHUMP00000234551;OTTHUMP00000234707;adhesion molecule AMICA;adhesion molecule interacting with CXADR antigen 1;adhesion molecule that interacts with CXADR antigen 1;dendritic cell-specific protein CREA7-1;dendritic-cell specific protein CREA7-1;dendritic-cell specific protein CREA7-4;junctional adhesion molecule;junctional adhesion molecule-like protein-coding ENSG00000160593 HGNC:19084 16482 609770 VALIDATED 733276 AMHR2 anti-Mullerian hormone receptor, type II This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009] 12 12 12 q13 53467836 53475515 + 53817594 53825439 + 53423811 53431654 + 1580863;704409;70669;2315638;2315651;6480464;6907045;7240710;8699517;8554872 11125071;17988723;19424576;8119126 10589763;10874041;11420127;11549681;11588147;12462075;12477536;12477932;12834017;14750901;15489334;15717329;16344560;17337470;17636279;18230658;18310289;18697861;19064572;19457927;19539910;20236105;20362961;20734064;20861221;20864412;22584735;22939624;22962306;23295284;23321213;23544102;23969185;24146295;24613539;7488027;7493017;8572466;8872466;8889695;8940028 269 H3BPI9;Q16671 ABBA01008337;AC068889;AF172932;AJ572328;AK313593;AMYH02026519;AY714878;BC126316;BC136356;CH471054;CR627318;DB020573;NG_015981;NM_001164690;NM_001164691;NM_020547;U29700;X89013;X91156;X91157;X91158;X91159;X91160;X91161;X91162;X91163;X91164;X91165;X91166;XM_005268786;XM_005268787;XM_005268788;XM_005268789;XM_005268790;XM_005268791;XM_005268792;XM_005268793;XM_005268794;XM_005268795 AAC50328;AAD48497;AAI26317;AAI36357;AAU21221;ADR83081;CAA61418;CAA62593;EAW96701;NP_001158162;NP_001158163;NP_065434;Q16671;XP_005268843;XP_005268844;XP_005268845;XP_005268846;XP_005268847;XP_005268848;XP_005268849;XP_005268850;XP_005268851;XP_005268852 Hs.659889 1747699;1747701;2144914 G64261;G64262;STS-U29700 AMHR;MISR2;MISRII;MRII AMH type II receptor;MIS type II receptor;Muellerian inhibiting substance type II receptor;Mullerian inhibiting substance type II receptor;OTTHUMP00000242707;OTTHUMP00000242708;OTTHUMP00000242709;anti-Muellerian hormone type II receptor;anti-Muellerian hormone type-2 receptor;anti-mullerian hormone type 2 receptor APPROVED protein-coding ENSG00000135409 HGNC:465 02978 261550;600956 REVIEWED 736884 AMIGO2 adhesion molecule with Ig-like domain 2 INVOLVED IN heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (ortholog); homophilic cell adhesion via plasma membrane adhesion molecules (ortholog); negative regulation of programmed cell death (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 12 12 12 q13.11 46266530 46270780 - 47469490 47473734 - 47075707 47079951 - 6480464;8554872 12477932;12629050;12843293;14702039;15107827;15146197;15489334;21078624;21139048;22219177;23000965 347902 Q86SJ2 AB079074;AB080610;ABBA01031461;AC004010;AK091761;AK093111;AL833007;AMYH02026412;AY237005;AY454159;BC014103;BC047595;BC095477;CH471111;CN397638;JA738799;NM_001143668;NM_181847;XM_005268837 AAH14103;AAH47595;AAH95477;AAO48946;AAR83271;BAC81188;BAC81189;BAG52413;BAG52657;CAH56293;CCF77052;EAW57923;EAW57924;NP_001137140;NP_862830;Q86SJ2;XP_005268894 Hs.121520 1696596;1697182;2218216 AMIGO2__4296;RH102080;SHGC-82896 ALI1;AMIGO-2;DEGA OTTHUMP00000241691;OTTHUMP00000241692;OTTHUMP00000241693;alivin 1;alivin-1;amphoterin induced gene 2;amphoterin-induced protein 2;differentially expressed in gastric adenocarcinoma;differentially expressed in gastric adenocarcinomas;transmembrane protein AMIGO2 protein-coding ENSG00000139211 HGNC:24073 16483 615690 VALIDATED 1606525 AMIGO1 adhesion molecule with Ig-like domain 1 INVOLVED IN axonal fasciculation (ortholog); heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (ortholog); homophilic cell adhesion via plasma membrane adhesion molecules (ortholog); FOUND IN cell projection (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH amiodarone; trichostatin A; valproic acid 1 1 1 p13.3 108318787 108321677 - 110049446 110052336 - 109506824 109509714 - 6480464 10574461;12477932;12629050;15489334;16710414;17207965;20383146 57463 Q86WK6 AB032989;ABBA01068378;AK295678;AL355145;AMYH02001711;AY237007;BC040879;CH471122;DC317707;NM_020703 AAH40879;AAO48948;ACE86637;ACE87319;ADQ33120;BAA86477;BAG58535;EAW56391;NP_065754;Q86WK6 Hs.726479 1687005;2134085;2163510 RH26161;SHGC-75264;WI-12158 ALI2;AMIGO-1 AMIGO;OTTHUMP00000013378;OTTHUMP00000013379;alivin-2;amphoterin-induced gene and ORF;amphoterin-induced protein 1 protein-coding ENSG00000181754 HGNC:20824 11129 615689 VALIDATED 735629 AMIGO3 adhesion molecule with Ig-like domain 3 INVOLVED IN heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (ortholog); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); ammonium chloride (ortholog); benzo[a]pyrene (ortholog) 3 3 3 p21 49718958 49721929 - 49754267 49757238 - 49716834 49719805 - 6480464 11347906;12477932;12629050;12975309;15489334;20307617;21297633 386724 Q494V5;Q86WK7 ABBA01024577;AC099668;AMYH02006756;AY237003;AY358134;BC101363;BC101364;BC101365;BC110418;BQ673901;CH471055;NG_011603;NM_198722 AAI01364;AAI01365;AAI01366;AAI10419;AAO48944;AAQ88501;EAW65011;NP_942015;Q86WK7 Hs.567903 1675610;1684495;1712112;1852317;1856980;2106421;2117546;2153948;2177221 A004P45;A005X28;AMIGO3__4297;G54105;RH15941;RH65603;RH78233;RH78461;RH91732 ALI3;AMIGO-3;MGC120552 OTTHUMP00000212652;alivin-3;amphoterin induced gene and orf 3;amphoterin-induced gene and ORF 3;amphoterin-induced protein 3 protein-coding ENSG00000176020 HGNC:24075 16484 615691 VALIDATED 1347896 AMLCR2 acute myeloid leukemia chromosome region 2 ASSOCIATED WITH Leukemia, Myeloid, Acute (inferred) 7240710 9382098 9163 HGNC:466 601626 6481065 AMMECR1-IT1 AMMECR1 intronic transcript 1 (non-protein coding) q23 100874352 AL031319;AL699506;HG512652 Hs.682139 ncrna HGNC:41306 1347096 AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] X X X q22.3 109917037 110163085 - 109437414 109683461 - 110194186 110440233 - 6480464;8554872 10049589;12477932;14702039;15489334;15558565;15772651;16344560;17207965;19322201;19460752;21139048;9480748 9949 Q9Y4X0 ABBA01043400;ABBA01043401;ABBA01043402;ABBA01043403;ABBA01043404;ABBA01043405;ABBA01043406;ABBA01043407;ABBA01043408;ABBA01043409;ABBA01043410;ABBA01043411;ABBA01043412;ABBA01043413;ABBA01043414;ABBA01043415;ABBA01043416;ABBA01043417;ABBA01043418;ABBA01043419;ABBA01043420;ABBA01043421;ABBA01043422;ABBA01043423;ABBA01043424;ABBA01043425;AC000113;AJ007014;AJ012221;AK001703;AK023637;AK055321;AK091430;AK314596;AL079334;AL137844;AL359079;AMYH02040230;AMYH02040231;BC024762;BC037983;BC051895;BC060813;BC065214;BX648797;CH471120;DA203031;KF459306;NG_016469;NM_001025580;NM_001171689;NM_015365 AAH60813;ADQ32993;BAG37168;BAG50964;BAG52359;CAB45546;CAB58122;CAB58123;EAX02663;NP_001020751;NP_001165160;NP_056180;Q9Y4X0 Hs.656243 1649891;1690496;1690862;1691594;1693282;1789118;1848099;1850366;2115681;2128498;2128856;2129101;2145915;2146027;2146936;2150189;2151116;2152653;2157043;2161165;2177617;5093366 A009N07;AF020160;AF026413;AL008900;AL022442;AL032569;DXS7531;DXS7599;DXS7733;DXS9727;G32676;G42344;G65693;L77264;L77265;RH11202;RH46895;RH77921;RH80450;RH80484;SGC34545;WI-16868 AMMERC1 AMME syndrome candidate gene 1 protein;Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region,;OTTHUMP00000023851;OTTHUMP00000023852;OTTHUMP00000215172 APPROVED protein-coding ENSG00000101935 HGNC:467 02182 300195 REVIEWED 1605931 AMMECR1L AMMECR1-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; copper(2+) sulfate 2 2 2 q21 121930156 121953388 - 128619204 128643635 - 127861630 127885940 - 6480464;8554872 12477932;14702039;15489334;17207965;19322201;20098747;21139048;22087225;23602568 83607 Q6DCA0 ABBA01040189;ABBA01040190;AC012306;AK024993;AK026685;AK095871;AK304145;AL137415;AMYH02004742;AMYH02004743;BC004208;BC016181;BC067124;BC078174;BC084552;CH471103;NM_001199140;NM_031445;XM_005263804;XM_005263806;XM_005263807;XM_005263808;XM_006712786;XM_006712787 AAH16181;AAH78174;ADQ32032;BAG65038;EAW95346;EAW95347;EAW95348;EAW95349;NP_001186069;NP_113633;Q6DCA0;XP_005263861;XP_005263863;XP_005263864;XP_005263865;XP_006712849;XP_006712850 Hs.546449 1723251;2137072;2151359;2165885;2172906 AFMa204xe5;RH122312;RH70799;RH78129;WI-17503 FLJ38552;MGC4268 AMME chromosomal region gene 1-like;AMMECR1-like protein;OTTHUMP00000162270 APPROVED protein-coding ENSG00000144233 HGNC:28658 14625 VALIDATED 5130582 AMMECR1LP1 AMMECR1-like pseudogene 1 13 13 13 78073329 78074190 + 97225896 97226757 + 96573642 96574503 + 100420921 ABBA01027168;AL356098;AMYH02028535;NG_024945 1703282 SHGC-68276 APPROVED pseudo HGNC:39809 INFERRED 1318522 AMN amnion associated transmembrane protein The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008] 14 14 14 q32.3 83443115 83451301 + 103388993 103397179 + 102922656 102930842 + 1599101;1580863;6480464;7240710;8554872;8699517 12590260 11279507;11279523;12477932;12975309;14576052;14702039;16403802;16730941;17979745;18029348;19056867;21750092;22078000;22929189;8660894;8889548;9851841 81693 H0YKJ5;H0YMX8;Q9BXJ7 ABBA01048448;ABBA01048449;AF328788;AK055802;AL117209;AMYH02029910;AY358468;BC029948;CB306421;CH471061;NG_008276;NM_030943 AAK28532;AAQ89949;BAG51576;EAW81798;EAW81799;NP_112205;Q9BXJ7 Hs.534494 2217008 AMN_3231 PRO1028 amnionless;amnionless homolog;visceral endoderm-specific type 1 transmembrane protein APPROVED protein-coding ENSG00000166126 HGNC:14604 09314 261100;300100;605799 REVIEWED 1606942 AMN1 antagonist of mitotic exit network 1 homolog (S. cerevisiae) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH formaldehyde; genistein; methyl methanesulfonate 12 12 12 p11.21 11646334 11704593 - 31824071 31882108 - 31671137 31729174 - 6480464;8554872 12477932;14702039;23761726 196394 E9PHB0;F5GWF7;F5H1R2;F5H286;F5H3D1;F5H7U5;Q8IY45 ABBA01031738;ABBA01031739;ABBA01031740;ABBA01031741;ABBA01031742;AC023157;AK094708;AK123033;AK302112;AK311214;AK311249;AL833434;AMYH02026283;AMYH02026284;BC037897;BC045831;BC067906;BI464068;CH471116;DC325581;DC394802;NM_001113402;NM_001278411;NM_001278412;NR_103522;NR_103523;XM_006719054;XM_006719055 AAH37897;AAH45831;AAH67906;BAH13629;EAW88543;EAW88544;NP_001106873;NP_001265340;NP_001265341;Q8IY45;XP_006719117;XP_006719118 Hs.585084;Hs.740628 1341681;1761059;1767747;2153618;2163568 D12S1621;RH11230;SHGC-145009;SHGC-56513;WI-20441 OTTHUMP00000240376;OTTHUMP00000240377;OTTHUMP00000240379;OTTHUMP00000240381;protein AMN1 homolog protein-coding ENSG00000151743 HGNC:27281 14115 VALIDATED 1344662 AMOT angiomotin This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X X q23 112502736 112568672 - 112018105 112084136 - 112774877 112840908 - 6480464;8554872 10470851;11257124;11257132;12168954;123345;12345;12406577;12477932;12902404;14702039;15489334;15804419;16043488;16196087;16640563;16678097;16754857;17148452;18824598;18850735;19460752;19565639;19590046;19615732;19913121;20080965;20562859;20628086;21139048;21145461;21145499;21224387;21285250;21481793;21832049;21890473;22053931;22268729;22385262;22939629;22948661;23000965;23389031;23443559;23564455;23588948;24003252;24003254;24101513;24106267;24225952;24244333;24255178;24548561;24550385;24722188;24984263;25036637 154796 A6NP16;E7ERM3;Q4VCS5 AB028994;ABBA01043121;ABBA01043122;ABBA01043123;ABBA01043124;ABBA01043125;ABBA01043126;ABBA01043127;ABBA01043128;ABBA01043129;ABBA01043130;ABBA01043131;ABBA01043132;AC004827;AF286598;AK024344;AK301573;AMYH02040248;AY987378;BC039408;BC050581;BC094712;BC130294;CH471120;NG_012628;NM_001113490;NM_133265;XM_005262087;XM_005262088;XM_005262089;XM_005262090;XM_006724623 AAG01851;AAH94712;AAI30295;AAY24451;BAA83023;BAG63066;EAX02626;EAX02627;NP_001106962;NP_573572;Q4VCS5;XP_005262144;XP_005262145;XP_005262146;XP_005262147;XP_006724686 Hs.528051 1664099;1672127;1694080;2110257;2116866;2150764;5106118 AFMa275zc9;AL035157;AMOT;AMOT_3722;G16015;G31118;WI-13613 KIAA1071 OTTHUMP00000023866;OTTHUMP00000037949;OTTHUMP00000037950;OTTHUMP00000226603;angiomotin p130 isoform;angiomotin p80 isoform APPROVED protein-coding ENSG00000126016 HGNC:17810 02327 300410 REVIEWED 1313196 AMOTL1 angiomotin like 1 The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 q14.3 91789295 91897678 + 94439602 94609918 + 94706436 94876753 + 1580863;6480464 11076863;11230166;11733531;12406577;12477932;14702039;15489334;15489336;16019084;16055720;16381901;17353931;18029348;18850735;18951430;19565639;19590046;19615732;19932912;21139048;21145499;21685940;21890473;21906983;21963094;22558212;23000965;23564455;23793505;24003252;24163370;24255178;24457600;24550385 154810 F8WDH4;Q8IY63 ABBA01040023;AF453742;AK024350;AK074084;AK093699;AL137281;AL833833;AMYH02025373;AMYH02025374;AP001152;AP002376;BC014126;BC018449;BC037539;BC040683;BX648729;CH471065;KF454945;KF455454;KF511169;NM_001301007;NM_130847;XM_005273798;XM_005273800;XM_005273801;XM_006718771;XM_006718772 AAH14126;AAH37539;AAL49764;BAB84910;BAC04218;CAD38693;CAH56180;CAL38539;EAW66943;EAW66944;EAW66945;NP_001287936;NP_570899;Q8IY63;XP_005273855;XP_005273857;XP_005273858;XP_006718834;XP_006718835 Hs.503594 1724311;1767125;1848506;1848528;2134397;2167406;2174562 A004Y10;D11S2227E;RH119076;RH16151;RH36117;RH45157;WI-15566 JEAP OTTHUMP00000236978;OTTHUMP00000237751;angiomotin-like protein 1;junction-enriched and associated protein APPROVED protein-coding ENSG00000166025 HGNC:17811 12451 614657 REVIEWED 735799 AMPD1 adenosine monophosphate deaminase 1 Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 1 1 1 p13 113444980 113467497 - 115215719 115238239 - 114673098 114695618 - 1578329;1580863;6480464;6907045;7240710;8699517;8554872 15793265 10086964;10996775;11028479;11102975;12117480;12213808;12477932;12783984;1370861;1400401;14702039;15135700;15173240;15239633;15309698;15368811;15677729;15882662;16021915;16021918;1631143;16344560;16360962;16570231;16671104;16707139;16710414;16767606;16875916;16947783;16996850;17376785;17463303;17500595;17530705;17565237;17630210;17687759;18224333;18338202;18409530;18493842;18801770;18855224;19237423;19277943;19353846;19422651;19427446;19845893;19902562;19913121;19948975;20044476;20544536;20628086;20952631;21108053;21145461;22017426;22105616;22324844;2345176;23486588;24058088;24189344;2502331;6167680;6406772;644316;7201581;8335021;8355716;8889549;9443500;9730972;9880040 270 P23109 AA086476;AB125879;AB158499;AB158500;AB158502;AB160874;AB160875;AB160876;AB160877;AB160878;ABBA01068467;AK097077;AK291349;AK314252;AL096773;AMYH02001784;BC056678;CH471122;DA826076;M37931;M60092;NG_008012;NM_000036;NM_001172626 AAA57281;AAG24258;AAH56678;AAI40300;AAI41601;BAD23974;BAD23975;BAD23977;BAD27426;BAD27427;BAD27428;BAD27429;BAD27430;BAD69565;BAF84038;BAG36918;EAW56606;EAW56607;NP_000027;NP_001166097;P23109 Hs.89570 1660397;1736576;1740781;1746719;5491763 AI553520;AMPD1;CHLC.GGAA25C10;D1S2069E;D1S3310 AMPD;MAD;MADA;MMDD AMP deaminase 1;OTTHUMP00000013665;OTTHUMP00000013666;adenosine monophosphate deaminase 1 (isoform M);adenosine monophosphate deaminase-1 (muscle);myoadenylate deaminase;skeletal muscle AMPD APPROVED protein-coding ENSG00000116748 HGNC:468 00040 102770;615511 REVIEWED 737053 AMOTL2 angiomotin like 2 Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 3 q21-q22 132500465 132519692 - 134074187 134094321 - 134355345 134375417 - 6480464 10231032;12406577;12477932;14702039;15489334;16189514;16344560;16678097;21139048;21145461;21145499;21832154;21906983;21937427;21963094;21987572;22779921;23525008;23564455;23667531;23911299;24003252;24225952;24255178;8125298;8889549 51421 D6RBK2;D6RCL7;D6RF61;D6RFG0;D6RIC7;D6RJA4;Q9Y2J4 AA056579;AB023206;ABBA01059156;AC010207;AF175966;AI214560;AK001343;AK074731;AK091040;AK223598;AK291616;AK299270;AMYH02007720;AW294642;BC011454;BC025981;BU178516;CH471052;DA330301;NM_001278683;NM_001278685;NM_016201;XM_005247520;XM_006713654;XM_006713655 AAD56361;AAH11454;AAH25981;BAA76833;BAD97318;BAF84305;BAG51994;BAG52268;BAH12987;EAW79150;EAW79151;EAW79152;NP_001265612;NP_001265614;NP_057285;Q9Y2J4;XP_005247577;XP_006713717;XP_006713718 Hs.426312;Hs.713601 1680505;1703178;1772593;2106423;2144025;2159147;2160410;2163020 A002Y47;AMOTL2__4299;RH80520;SGC32004;SHGC-32914;SHGC-34138;STS-H93486;WI-20334 LCCP Leman coiled-coil protein;OTTHUMP00000216465;OTTHUMP00000216466;OTTHUMP00000216530;OTTHUMP00000216978;angiomotin-like protein 2 APPROVED protein-coding ENSG00000114019 HGNC:17812 16485 614658 REVIEWED 732010 AMPD3 adenosine monophosphate deaminase 3 This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 11 11 11 p15 10593627 10650868 + 10471846 10529126 + 10450321 10507579 + 734568;1580863;1300048;6480464;6907045;8554872 8032342 11139257;12213808;12477932;12604357;1400401;1420359;15174051;15807549;16670071;18409530;18493842;20379614;20686565;21906983;22145905;22505724;24097068;3804327;7881427;8004104;8140814;8611627;8863347;9291127 272 E9PIR5;E9PKC5;E9PLK6;E9PPG2;H0YDC3;H0YDY8;Q01432 ABBA01061158;ABBA01061159;AC021914;AK289998;AK294444;AK295046;AK299113;AK301507;AK302970;AK308181;AK311279;AK311436;AK311607;AK311711;AK313039;AMYH02024327;BC126118;CH471064;D12775;D31646;DC334250;DC401375;M84720;M84721;M84722;NG_012041;NM_000480;NM_001025389;NM_001025390;NM_001172430;NM_001172431;U29926 AAA58365;AAA58366;AAA58367;AAB60408;AAB60409;AAB60410;AAI26119;ADR83397;BAA02240;BAA06505;BAF82687;BAH11768;BAH11958;BAH12953;BAH13499;BAH13863;EAW68567;EAW68568;EAW68569;NP_000471;NP_001020560;NP_001020561;NP_001165901;NP_001165902;Q01432 Hs.501890 1647079;1738093;1739129;1794558;2110543;2110545;2167694;2171161;2186890;5492102 D11S3721;D11S3937;D6S2084;G15890;MARC_44783-45779:1101739380:7;MARC_44785-45781:1101739916:1;MARC_45777-45778:1101741591:5;PMC31832P1;RH46259;STS-U29926 AMP aminohydrolase;AMP deaminase 3;OTTHUMP00000230743;OTTHUMP00000230746;OTTHUMP00000230747;OTTHUMP00000230748;OTTHUMP00000230749;adenosine monophosphate deaminase (isoform E);erythrocyte AMP deaminase;erythrocyte type AMP deaminase;erythrocyte-specific AMP deaminase;myoadenylate deaminase APPROVED protein-coding ENSG00000133805 HGNC:470 00041 102772;612874 REVIEWED 1346106 AMPD2 adenosine monophosphate deaminase 2 The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 1 1 1 p13.3 108431768 108443987 + 110162435 110174677 + 109619813 109632055 + 1580863;6480464;6907045;8699517;7240710;8554872 12477932;12745092;1400401;1429593;15489334;16344560;16964243;17081983;18493842;19948975;19953087;20125088;21044950;21139048;21906983;21963094;22863883;22944692;23000965;23911318;24255178;24482476;24654937;24755741;24816145;8526848;8764830 271 B2RB47;E9PIJ1;E9PJF6;H0Y360;H0YCL9;H0YE32;H0YF16;Q01433 ABBA01068380;AK025706;AK296394;AK302939;AK308907;AK314494;AL355310;AMYH02001711;AMYH02001712;BC007711;BC030217;BC075844;CH471122;DA444620;DA558264;DC410161;M91029;NG_034075;NM_001257360;NM_001257361;NM_004037;NM_139156;NM_203404;S47833;U16267;U16268;U16269;U16270;U16272;XM_005270752;XM_006710576 AAA11725;AAA62126;AAA62127;AAB06511;AAC50306;AAC50307;AAC50308;AAC50309;AAD56302;AAD56303;AAH07711;AAH75844;BAG37094;BAG59062;BAG64097;EAW56396;EAW56397;EAW56398;EAW56399;EAW56400;EAW56401;NP_001244289;NP_001244290;NP_004028;NP_631895;NP_981949;Q01433;XP_005270809;XP_006710639 Hs.82927 1653207;2191703;2191749;2218218;5014053 A006D12;AMPD2__4213;D1S3693;MARC_5351-5352:996690313:1;MARC_6497-6498:996689707:1 AMPD;PCH9;SPG63 AMP deaminase 2;OTTHUMP00000013369;OTTHUMP00000013370;OTTHUMP00000013371;OTTHUMP00000233627;OTTHUMP00000233629;OTTHUMP00000233630;OTTHUMP00000233633;OTTHUMP00000233634;adenosine monophosphate deaminase 2 (isoform L) APPROVED protein-coding ENSG00000116337 HGNC:469 11808 102771;615686;615809 REVIEWED 733884 AMPH amphiphysin This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010] 7 7 7 p14-p13 38411134 38658846 - 38423297 38671167 - 38383696 38631567 - 1300282;6480464;8554872 11879655 10542231;10748223;10764771;10899172;10931822;11113134;11709703;11877424;12023042;12057195;12456676;12477932;12558988;12565847;12690205;12853948;14529717;14704270;14973137;15345747;15489334;15834155;16139795;16275660;1628617;16344560;16671079;16696976;16733250;17244534;17419807;17437541;17762867;18206907;18647389;18814309;19144635;19669081;20214647;20379614;20946875;21044950;21712076;21900206;22331304;22360420;22558309;22745667;22975846;23000965;7757077;7757816;8076697;8245793;8552632;9148966;9182667;9195986;9259551;9280305;9315708;9341169;9348539;9388246;9513187;9603201;9694653;9736607 273 H0Y5S4;H0Y7T8;P49418 ABBA01056929;ABBA01056930;AC007245;AC011309;AC012490;AC096581;AC244625;AF034996;AF099116;AF099117;AF099119;AF099120;AF498092;AF498093;AF498094;AF498095;AF498096;AF498097;AK291447;AMYH02015550;AMYH02015551;AMYH02015552;AMYH02015553;AMYH02015554;AMYH02015555;BC034376;CH236951;CH471073;DA125756;F03887;KF458445;KF511030;NM_001635;NM_139316;U07616;X81438;XM_006715689;XM_006715690;XM_006715691 AAA21865;AAC02977;AAD16282;AAD16283;AAD16284;AAD16285;AAH34376;AAM44806;AAM44807;AAM44808;AAM44809;AAM44810;AAM44811;AAS07391;AAS07541;AAS07563;ADZ15497;BAF84136;CAA57197;EAL23989;EAL23990;EAW94110;EAW94111;NP_001626;NP_647477;P49418;XP_006715752;XP_006715753;XP_006715754 Hs.592182 1646260;1649604;1649855;1650027;1653164;1706822;1752901;1771088;1771651;1846530;2053486;2107831 1708;AMPH;AMPH_8202;D7S2115E;GDB:1317308;REN97903;RH17983;SHGC-106776;SHGC-52716;SHGC-56040;SHGC-80888;WI-12429 AMPH1 OTTHUMP00000135289;OTTHUMP00000207238;Stiff-Man syndrome with breast cancer 128kDa autoantigen;amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen);amphiphysin I APPROVED protein-coding ENSG00000078053 HGNC:471 02687 600418 REVIEWED 1343884 AMT aminomethyltransferase This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 3 3 3 p21.2-p21.1 49418998 49424898 - 49454211 49460111 - 49416778 49422678 - 1599106;1599107;1580863;6480464;6907045;7242560;7240710;8554872;8699517 20645850;3877504;8005589 10873393;11286506;12477932;14702039;16051266;16450403;18676680;19161160;19170196;19367581;19416867;19625176;19913121;1993704;20301531;20307617;20628086;20634891;20877624;22171071;22404213;25036637;6111451;6790577;7916605;8188235;9600239;9621520 275 B4DGG9;C9JXJ4;F8WF62;H0Y695;P48728 ABBA01024587;AC104452;AK091738;AK096062;AK290600;AK293481;AK293594;AK294592;AK296177;AK301072;AMYH02006751;BC007546;BC044792;BC094771;CH471055;D13811;D14686;DC387800;GD148179;NG_015986;NM_000481;NM_001164710;NM_001164711;NM_001164712;NR_028435 AAH07546;AAH44792;BAA02967;BAA03512;BAF83289;BAG52409;BAG53206;BAG56972;BAG57060;BAG57780;BAG58912;BAG62678;EAW64984;EAW64986;NP_000472;NP_001158182;NP_001158183;NP_001158184;P48728 Hs.102 1651121;1743669;1743671;1743673;1858464;2178347 A002R20;D3S3344;GDB:366601;GDB:366602;GDB:366605;RH17372 GCE;GCST;GCVT;NKH OTTHUMP00000210791;OTTHUMP00000210792;OTTHUMP00000210793;OTTHUMP00000210824;aminomethyltransferase (glycine cleavage system protein t);aminomethyltransferase, mitochondrial;glycine cleavage system T protein;glycine cleavage system protein T APPROVED protein-coding ENSG00000145020 HGNC:473 01997 238310;605899 REVIEWED 1604908 AMTN amelotin The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008] 4 4 4 q13.3 68742456 68756611 + 71384298 71398460 + 70518572 70532743 + 6480464 12477932;12975309;15340161;15489334;16304441;16787391;21697133;8889548 401138 F1T0L8;Q6UX39 AB593161;ABBA01022928;ABBA01022929;AC134919;AMYH02009421;AY358528;BC121812;BC121817;BF664579;BU727294;CH471057;NM_001286731;NM_212557 AAI21813;AAI21818;AAQ88892;BAJ84092;EAX05622;NP_001273660;NP_997722;Q6UX39 Hs.453069 1339911 D4S2969 MGC148132;MGC148133;UNQ689 OTTHUMP00000160354;OTTHUMP00000219137;RSTI689 APPROVED protein-coding ENSG00000187689 HGNC:33188 18270 610912 VALIDATED 1348537 AMY1B amylase, alpha 1B (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] 1 1 p21 104230039 104243519 - 103687417 103700771 - 6907045;6480464 12477932;15286789;16152770;16203048;17353931;2081604;2423416;2452973;2788608;6176528;6608795 277 P04745;Q5T084;Q5T085 AI627716;AK292341;AK313275;AL513482;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;CB957894;CB958435;CB958705;NM_001008218;XM_005270758;XM_006710580 AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;AAI72291;BAF85030;NP_001008219;P04745;XP_005270815;XP_006710643 Hs.599274;Hs.654437;Hs.655232;Hs.662103 5114567 SHGC-32938 AMY1;AMY1A;AMY1C;MGC177995 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012691;alpha-amylase 1;amylase, alpha 1b, salivary;amylase, salivary, alpha-1B;glycogenase;salivary alpha-amylase;salivary amylase alpha 1B APPROVED protein-coding ENSG00000174876 HGNC:475 18510 104701 REVIEWED 1353407 AMY1A amylase, alpha 1A (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 1 1 1 p21 102470882 102472776 + 104193695 104207174 + 103651199 103664552 + 1580863;6480464;6907045 11858714;12104089;12414807;12477932;12527308;12782315;14637141;15182367;15194503;15286789;15299664;15489334;15708646;16152770;16203048;16740002;1710976;17353931;17593303;17828263;17984929;18951906;2081604;20967220;21840370;22100627;22391145;22492122;22914593;22965187;23144191;24225843;2423416;2424823;2442579;2450054;2452973;2458567;24686848;2788608;6176528;6196780;6608795;6610603;7507116;9109822 276 P04745;Q5T084;Q5T085;Q6NSB3 AC105272;AK292341;AK313275;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;BX487266;CB956272;M18671;M18674;M18715;M18786;M19233;NM_001008221;NM_004038;XM_005270755;XM_006710579 AAA16183;AAA52279;AAA57345;AAA58368;AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;BAF85030;NP_001008222;NP_004029;P04745;XP_005270812;XP_006710642 Hs.655232 5114567 SHGC-32938 AMY1;AMY1B;AMY1C 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012688;alpha-amylase 1;amylase, alpha 1a, salivary;amylase, salivary, alpha-1A;glycogenase;salivary alpha-amylase;salivary amylase alpha 1A APPROVED protein-coding ENSG00000237763 HGNC:474 00096 104700 REVIEWED 732589 AMY2A amylase, alpha 2A (pancreatic) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jul 2008] 1 1 1 p21 102410947 102413357 + 104159999 104168400 + 103617377 103625778 + 1580863;1300048;6480464;6907045;8554872 10091666;10769135;11376382;11772019;11914097;12477932;1284286;14718574;15286789;15304511;15489334;15571103;15648851;16152770;19001184;20428766;2081604;21366335;21827821;21988832;22063648;22584580;23602568;2423416;2450054;2452973;2458567;2788608;3260028;6336237;6608795;6610603;8125298;8193143;8528071;890964 279 H7BZQ8;P04746 ABBA01045412;AC105272;AK223463;AMYH02001594;BC007060;BC146997;CS588494;M18669;M18785;M28443;NM_000699;X07056 AAA51723;AAA51724;AAA52280;AAH07060;AAI46998;ABM83827;ABM87150;BAD97183;CAA30099;CAN87444;NP_000690;P04746 Hs.654437 AMY2;AMY2B;PA 1,4-alpha-D-glucan glucanohydrolase;OTTHUMP00000012694;alpha-amylase;amylase 1;amylase, alpha 2A, pancreatic;amylase, pancreatic, alpha-2A;found in the pancreas;glycogenase;pancreatic alpha-amylase;pancreatic amylase 2A;pancreatic amylase alpha 2A APPROVED protein-coding ENSG00000243480 HGNC:477 00094 104650 REVIEWED 1345853 AMY1C amylase, alpha 1C (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] 1 1 1 p21 102469673 102472775 + 104287833 104301312 + 103745337 103758690 + 6480464;6907045 12414807;12477932;15286789;16203048;16502470;17353931;19199708;2081604;2423416;2452973;2788608;6176528;6608795 278 P04745 ABBA01028464;AI687773;AK292341;AK313275;AL513482;AMYH02001612;AMYH02001613;AMYH02001614;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;CB955582;CB985420;CB985730;CB987307;CD690933;NM_001008219;XM_005270761;XM_006710581 AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;AAI46451;AAI56581;BAF85030;NP_001008220;P04745;XP_005270818;XP_006710644 Hs.655232;Hs.662103 5114567 SHGC-32938 AMY1;AMY1A;AMY1B 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012722;alpha-amylase 1;amylase, alpha 1c, salivary;amylase, salivary, alpha-1C;glycogenase;salivary alpha-amylase;salivary amylase alpha 1C APPROVED protein-coding ENSG00000187733 HGNC:476 15911 104702 REVIEWED 1319648 AMY2B amylase, alpha 2B (pancreatic) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013] 1 1 1 p21 102289703 102314336 + 104095894 104122156 + 103554644 103579534 + 1580863;6480464;6907045 11347906;11376382;11408008;12477932;1429515;14702039;15252450;15286789;15489334;16152770;16344560;1692298;2081604;2401405;24244333;2452973;2458567;2483397;2701942;2788608;309725;3260028;6608795;8268204;890964 280 B3KTI1;C9J2Z5;C9JWK7;P19961 ABBA01045412;AC105272;AI436349;AK095605;AK127047;AMYH02001592;BC011179;BC020861;BX456665;CH471097;D90097;DA157436;DB235608;DQ786288;M18670;M24895;NM_020978;X07057 AAA35525;AAA51725;AAH11179;AAH20861;BAA14130;BAG53093;BAG54429;CAA30100;EAW72902;EAW72903;EAW72904;NP_066188;P19961 Hs.484588 1679996;1741403;2116807;2125765;5019379;5114548 G06574;GDB:181084;PMC133998P8;RH66389;SHGC-34189;SHGC-75238 AMY2;AMY3;HXA 1,4-alpha-D-glucan glucanohydrolase 2B;OTTHUMP00000012696;OTTHUMP00000012697;alpha-amylase 2B;alpha-amylase carcinoid;amylase, alpha 2b, pancreatic;carcinoid alpha-amylase;glycogenase APPROVED protein-coding ENSG00000240038 HGNC:478 00095 104660 REVIEWED 1348760 AMYP1 amylase, alpha pseudogene 1 1 1 1 p21 6316 10828 - 104256342 104262511 + 103713720 103719889 + 15286789;2081604;2452973;2788608;6608795 281 ABBA01045412;AL513482;AMYH02001594;NG_029354 AMY2P pseudo HGNC:479 INFERRED 1605859 AMZ1 archaelysin family metallopeptidase 1 ENCODES a protein that exhibits metallopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH cadmium dichloride (ortholog); pirinixic acid (ortholog); succimer (ortholog) 7 7 7 p22.3 2688040 2723669 + 2719163 2755069 + 2679522 2715436 + 6480464 11853319;12477932;12690205;14702039;15972818;23563607 155185 A4D202;Q400G9 AB075830;ABBA01039388;ABBA01039389;AC006028;AJ635357;AK092107;AK289723;AK295842;AK308900;AK311182;AMYH02015081;BC146753;CH236953;CH471144;NM_001284355;NM_133463 AAI46754;BAB85536;BAF82412;BAG52482;BAG58651;CAG25749;EAL23959;EAW87269;EAW87270;EAW87271;NP_001271284;NP_597720;Q400G9 Hs.42221 1767196 STS-H96670 KIAA1950 OTTHUMP00000201186;OTTHUMP00000201187;archaemetzincin-1;archeobacterial metalloproteinase-like protein 1;metalloproteinase-like protein protein-coding ENSG00000174945 HGNC:22231 17232 615168 VALIDATED 1605392 AMZ2 archaelysin family metallopeptidase 2 ENCODES a protein that exhibits metallopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; cyclosporin A 17 17 17 q24.2 62815748 62824909 + 66202127 66253305 + 68205988 68257164 + 6480464 11042152;12477932;14702039;15146197;15489334;15972818;17207965;20379614;21139048;21906983;24250222 51321 J3KRD0;J3KRS2;J3KS38;J3KSH1;J3KTM1;J3QL25;J3QLK6;J3QQR3;Q86W34 ABBA01028964;AC005332;AJ635358;AK090981;AK126146;AMYH02033870;AW028610;BC035935;BC050709;BC056271;BE543044;BF978559;BM450564;BQ432895;CH471099;CN278872;CN278874;NM_001033569;NM_001033570;NM_001033571;NM_001033572;NM_001033574;NM_001289054;NM_001289056;NM_016627;XM_005257432;XM_005257433;XM_005257435;XM_005257436;XM_005257437;XM_005257438;XM_006721940 AAH50709;AAH56271;ADQ33093;BAC86462;BAG52256;CAG25750;EAW89047;EAW89048;EAW89049;EAW89050;EAW89051;NP_001028741;NP_001028742;NP_001028743;NP_001028744;NP_001028746;NP_001275983;NP_001275985;NP_057711;Q86W34;XP_005257489;XP_005257490;XP_005257492;XP_005257493;XP_005257494;XP_005257495;XP_006722003 Hs.293560 1666206;1677632 D17S2023;RH27229 archaemetzincin-2;archaemetzincins-2;archeobacterial metalloproteinase-like protein 2 protein-coding ENSG00000196704 HGNC:28041 14237 615169 VALIDATED 1604205 AMZ2P1 archaelysin family metallopeptidase 2 pseudogene 1 INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 17 17 17 q24.1 59533914 59542949 - 62962668 62971703 - 64966550 64975585 - 6480464 12477932;14702039;15489334;22990118 201283 ABBA01029054;AC037487;AK056627;AK311317;AMYH02033801;BC003669;BC063466;BC073870;BX537538;CH471099;NR_026903 BAB71235;EAW88989;EAW88990;EAW88991;EAW88992 Hs.396447 1666206;1677632;1847881;1854526;1856223 D17S1394E;D17S2023;G19285;RH27229;RH77729 DKFZp686D22101;FLJ32065;MGC90301 APPROVED pseudo ENSG00000214174 HGNC:26491 08720 VALIDATED 3003936 AMZ2P2 archaelysin family metallopeptidase 2 pseudogene 2 6 6 6 159794719 159795837 - 159146722 159147840 - 158725690 158726808 - 100421018 ABBA01021083;AL589931;AMYH02014854;NG_022335;NG_029794 pseudo HGNC:38072 INFERRED 1353292 ANAPC1 anaphase promoting complex subunit 1 This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011] 2 2 2 q12.1 106403649 106465406 + 112525214 112641765 - 111767637 111884188 - 1580863;6480464;6907045;8554872 10318877;10500174;10548110;10793135;10922056;11076961;11179223;11179667;11285280;11340163;11438673;11535616;11742988;12070128;12477932;12956947;14593737;14657031;14702039;15029244;15252450;15302935;15489334;16364912;16565220;16921029;17643375;17827148;17942546;18485873;18535175;18622497;18997788;19535905;19826003;19826416;20064487;20080579;20360068;21043528;21139048;21402913;21454540;21549307;21633387;21890473;21906983;21963094;21987572;22014574;22190034;22193957;22377092;22504420;22505724;22586326;22939629;22990118;23007861;23022380;23078409;23160376;23213260;23251661;23263983;23314748;23637229;23667531;23817571;23979597;24163370;24250222;24255178;25043029 64682 F8WAS1;H0Y564;Q9H1A4 ABBA01005792;ABBA01005793;ABBA01016295;ABBA01221145;ABBA01232815;AC093166;AC104651;AI421643;AJ278357;AK023807;AK094527;AL832013;AMYH02004577;BC005089;BC104902;BC104904;BX282336;CH471245;DQ786300;NM_022662;XM_006712690;XM_006712691 AAH05089;AAI04903;AAI04905;BAB14687;CAC19484;EAW52095;NP_073153;Q9H1A4;XP_006712753;XP_006712754 Hs.436527 1673887;1769926;2115861;5022651 D11S2921;D2S2914;G16417;RH65352 APC1;MCPR;TSG24 OTTHUMP00000161951;OTTHUMP00000203537;anaphase-promoting complex 1 (meiotic checkpoint regulator);anaphase-promoting complex subunit 1;cyclosome subunit 1;mitotic checkpoint regulator;testis-specific gene 24 protein APPROVED protein-coding ENSG00000153107 HGNC:19988 09769 608473 VALIDATED 1318993 ANAPC10 anaphase promoting complex subunit 10 ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011] 4 4 4 q31 143243840 143346710 - 145915727 146019693 - 144994575 145098541 - 6480464;6907045;8554872 10318877;10498862;10548110;10793135;10827173;10922056;11230166;11285280;11340163;11524682;11535616;11739784;11742988;12070128;12477932;12956947;14593737;14657031;15029244;15144564;15146197;15489334;15489335;16364912;17540176;18485873;18997788;20080579;20360068;21043528;21139048;21186364;21336306;21890473;21906983;22193957;22505724;22792066;22939629;22990118;23007861;23078409;24144296;24816145;25043029 10393 D6R9Q5;D6RA92;D6RB36;D6RD74;Q9UM13 AB012109;ABBA01070020;ABBA01070021;ABBA01070022;ABBA01070023;ABBA01070024;AC096757;AC097649;AF132794;AL080090;AMYH02010247;AMYH02010248;AV757106;BC005217;BF693880;BG494966;BG530912;BI488888;BU175327;BU567906;CH471056;CN305215;CV023091;DQ304649;NM_001256706;NM_001256707;NM_001256708;NM_001256709;NM_001256710;NM_001256711;NM_001256712;NM_014885;NR_046345;XM_006714058;XM_006714059;XM_006714060;XM_006714061 AAD30527;AAH05217;AAY40941;ABB96248;ACE86568;ACE87250;ADZ15958;BAA86953;CAB45705;EAX05050;EAX05051;EAX05052;EAX05053;NP_001243635;NP_001243636;NP_001243637;NP_001243638;NP_001243639;NP_001243640;NP_001243641;NP_055700;Q9UM13;XP_006714121;XP_006714122;XP_006714123;XP_006714124 Hs.480876 1650584;1683858;1768133;2152828;2162717 D4S1291;D4S307;G34382;RH93603;SHGC-67673 APC10;DKFZp564L0562;DOC1 OTTHUMP00000220297;OTTHUMP00000220298;OTTHUMP00000220299;OTTHUMP00000220300;OTTHUMP00000220301;OTTHUMP00000220303;OTTHUMP00000220304;anaphase-promoting complex subunit 10;cyclosome subunit 10 APPROVED protein-coding ENSG00000164162 HGNC:24077 16488 613745 VALIDATED 2293158 ANAPC10P1 anaphase promoting complex subunit 10 pseudogene 1 1 1 1 p32.3 51005803 51006631 + 52719239 52720067 + 52253567 52254395 + 729198 ABBA01074777;AC105754;AMYH02001016;NG_007660 ANAPC10P APPROVED pseudo HGNC:33976 INFERRED 1346286 ANAPC13 anaphase promoting complex subunit 13 This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008] 3 3 3 q22.2 132622829 132631147 - 134196546 134204865 - 134477704 134486023 - 737633;6480464;6907045 12477932 11752456;14702039;15060174;15146197;15489334;16364912;18391952;18485873;20080579;20360068;20546612;20846217;21043528;22939629;23078409;24250222;25043029 25847 A8K3Z6;Q9BS18 ABBA01059155;AC010207;AF086169;AK001285;AK026550;AK290761;AL050051;AMYH02007722;AV682398;BC005398;BG428689;BU627217;BU852706;BX537696;CH471052;CN258858;NM_001242374;NM_001242375;NM_015391 AAH05398;BAF83450;CAB43251;EAW79143;EAW79144;EAW79145;EAW79146;EAW79147;EAW79148;EAW79149;NP_001229303;NP_001229304;NP_056206;Q9BS18 Hs.106909 1848135;1849906 D3S2877E;RH11514 APC13;DKFZp566D193;SWM1 OTTHUMP00000216544;OTTHUMP00000216545;OTTHUMP00000216546;OTTHUMP00000216547;anaphase-promoting complex subunit 13;cyclosome subunit 13;cylosome subunit 13;homolog of yeast Swm1 APPROVED protein-coding ENSG00000129055 HGNC:24540 08531 614484 REVIEWED 1343647 ANAPC11 anaphase promoting complex subunit 11 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein K11-linked ubiquitination; protein ubiquitination; PARTICIPATES IN cell cycle pathway, mitotic; ubiquitin/proteasome degradation pathway; FOUND IN anaphase-promoting complex; nucleus; INTERACTS WITH 17beta-estradiol; 2-methylcholine; Aroclor 1254 17 17 17 q25.3 76422607 76462372 + 79849599 79858363 + 81890790 81900533 + 1580863;6480464;6907045 10230407;10548110;10793135;10922056;11042152;11285280;11340163;11535616;11573242;11739784;11742988;12070128;12234927;12477932;12956947;14593737;14657031;14702039;15029244;15256223;15489334;16341674;16364912;16455800;16712791;16921029;17227951;17360335;18485873;18662541;18997788;19475398;19690564;19826003;19826416;20080579;20360068;20733055;20826619;21874044;21926987;21937719;21988832;22014574;22493164;22529100;22580460;23007861;23007976;23078409;23708001;23708605;23791783;23972993;24163370;24250222;24302728;25043029 51529 J3KSK3;J3QL35;J3QS46;Q9NYG5 AA356010;ABBA01019648;ABBA01019649;ABBA01019650;ABBA01019651;ABBA01019652;AC145207;AF151048;AF247565;AF247789;AI356704;AK091360;AK307214;AK308091;AMYH02034143;AW965775;AX061622;AX588227;AX588228;AX588229;AX588230;AX588231;AX588544;BC000607;BC066308;BC095454;BC104641;BC171892;BC171898;BC171899;BC171900;BF435042;BF512771;BG707824;BM762129;BM845909;BU554167;BU556841;BY796995;CA335305;CB106395;CH471099;DB501853;DB573049;HY067392;HY142453;NM_001002244;NM_001002245;NM_001002246;NM_001002247;NM_001002248;NM_001002249;NM_001289414;NM_001289415;NM_001289416;NM_001289417;NM_001289418;NM_001289419;NM_001289420;NM_016476 AAF36134;AAF65816;AAH00607;AAH66308;AAH95454;AAI04642;AAI71892;AAI71898;AAI71899;AAI71900;AAL95694;CAC24983;CAD61452;CAD61453;CAD61454;CAD61455;CAD61456;CAD61597;EAW89700;EAW89701;EAW89702;EAW89703;NP_001002244;NP_001002245;NP_001002246;NP_001002247;NP_001002248;NP_001002249;NP_001276343;NP_001276344;NP_001276345;NP_001276346;NP_001276347;NP_001276348;NP_001276349;NP_057560;Q9NYG5 Hs.534456 1734536;1775296;2107829;2115369;2147438 A006A06;ALY_7964;D17S1466E;RH16023;RH65274 APC11;Apc11p;HSPC214;MGC882 APC11 anaphase promoting complex subunit 11 homolog;anaphase promoting complex subunit 11 (yeast APC11 homolog);anaphase-promoting complex subunit 11;cyclosome subunit 11;hepatocellular carcinoma-associated RING finger protein protein-coding ENSG00000141552 HGNC:14452 12452 614534 VALIDATED 1601769 ANAPC15 anaphase promoting complex subunit 15 INVOLVED IN regulation of mitotic cell cycle spindle assembly checkpoint; FOUND IN anaphase-promoting complex; intracellular; INTERACTS WITH cobalt dichloride; cyclosporin A; elemental selenium 11 11 11 q13.4 69122580 69125769 - 71820633 71823822 - 72109587 72112776 - 6480464 11042152;11230166;11256614;12477932;15146197;15489334;17207965;21926987;23007861;23078409;23160376;24250222;25043029;8125298 25906 F5GWM6;F5GXB9;F5H2T3;F5H3R3;F5H6E4;F8WDQ6;G5EA39;P60006 ABBA01017542;AF077206;AK222622;AK311146;AL080071;AMYH02025075;AP000812;BC005156;BC005393;BE616852;BG752082;BG764016;BU532056;BU856100;BU930156;CD049337;CH471076;CN306434;HY080534;NG_021423;NM_001278485;NM_001278486;NM_001278487;NM_001278488;NM_001278489;NM_001278490;NM_001278491;NM_001278492;NM_001278493;NM_001278494;NM_014042;XM_005273885;XM_005273886;XM_005273887;XM_005273888;XM_006718492 AAD27001;AAH05156;AAH05393;ACE86562;ACE87244;ADQ32392;CAB45698;EAW74838;EAW74839;EAW74840;EAW74841;EAW74842;NP_001265414;NP_001265415;NP_001265416;NP_001265417;NP_001265418;NP_001265419;NP_001265420;NP_001265421;NP_001265422;NP_001265423;NP_054761;P60006;XP_005273942;XP_005273943;XP_005273944;XP_005273945;XP_006718555 Hs.38044 1683379;1847699 RH44914;RH92229 APC15;C11orf51;DKFZp564M082;HSPC020 OTTHUMP00000237102;OTTHUMP00000237103;OTTHUMP00000237104;OTTHUMP00000237105;OTTHUMP00000237106;OTTHUMP00000237107;OTTHUMP00000237108;OTTHUMP00000237109;OTTHUMP00000237110;anaphase-promoting complex subunit 15;hypothetical protein LOC25906;uncharacterized protein C11orf51 APPROVED protein-coding ENSG00000110200 HGNC:24531 13172 614717 VALIDATED 1345646 ANAPC16 anaphase promoting complex subunit 16 INVOLVED IN protein ubiquitination; FOUND IN anaphase-promoting complex; cytoplasm; INTERACTS WITH 17beta-estradiol; arsane; arsenic atom 10 10 10 q22.1 67259517 67279309 + 73975758 73995618 + 72216000 72235860 + 737633;6480464 12477932 14702039;15164054;15489334;15851553;16341674;16344560;18029348;18851979;19232044;19322201;20080579;20360068;21043528;21906983;22193957;22990118;23078409;23443559;24250222;25043029 119504 C5H3H2;Q96DE5 ABBA01020358;ABBA01020359;ABBA01020360;AI038150;AK023981;AL607035;AMYH02023308;AMYH02023309;AMYH02023310;AMYH02023311;BC009530;BF975718;BM768948;CB984695;CD511334;CD724246;CH471083;DA310509;DA739927;EU552924;NM_001242546;NM_001242547;NM_001242548;NM_173473;NR_038391;NR_038392 AAH09530;ACD68153;EAW54448;EAW54449;EAW54450;EAW54451;NP_001229475;NP_001229476;NP_001229477;NP_775744;Q96DE5 Hs.426296 2165308;2165310;5015861;5020740;5022578;5037552;5109362;7185938 A006H35;D10S16;D17S1239;D1S1423;D8S2279;G20818;L17809 APC16;C10orf104;CENP-27;FLJ33728;MSAG;bA570G20.3 OTTHUMP00000019780;anaphase-promoting complex subunit 16;centromere protein 27;cyclosome subunit 16;metabolic syndrome-associated protein APPROVED protein-coding ENSG00000166295 HGNC:26976 12554 613427 VALIDATED 6767436 ANAPC1P1 anaphase promoting complex subunit 1 pseudogene 1 2 2 p11.2 87088948 87122165 + 86861825 86895042 + 100286979 ABBA01075795;ABBA01075796;ABBA01075797;ABBA01075798;ABBA01075799;AC083899;AC092651;AC111200;AC125232;AK310642;AMYH02004205;KF456683;NR_037931 Hs.731217 1673887;1769926;1775201;2115861 D2S2914;G16417;RH65352;RH78790 pseudo ENSG00000233673 HGNC:44150 PROVISIONAL 1315264 ANAPC4 anaphase promoting complex subunit 4 A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 p15.2 25827551 25868815 + 25378848 25420120 + 25377213 25418498 + 1580863;6480464;6907045;8554872 10318877;10500174;10548110;10793135;10922056;11076961;11285280;11340163;11535616;11742988;12070128;12477932;12956947;14593737;14657031;14684825;14702039;15029244;16364912;16921029;17554300;18471975;18485873;19471022;19531213;19535905;19826416;20080579;20360068;20686030;20733055;20966902;21043528;21139048;21241890;21335556;21336306;21693764;21890473;21926987;22014574;22145905;22193957;22939629;22990118;23000965;23007861;23078409;23160376;23443559;23667531;23979597;24163370;25027693;25043029;6180011;8889548;9469815 29945 B3KN47;D6RAP6;D6RFM7;Q9UJX5 ABBA01032696;ABBA01032697;AC108218;AC110812;AF191338;AK001881;AK023562;AK023597;AK292336;AL353932;AMYH02008911;AY429517;AY429518;BC059383;BI546948;CA312572;CH471069;NM_001286756;NM_013367;XM_005248159;XM_006713961;XR_427487 AAF05752;AAH59383;BAF85025;BAG51209;CAB89245;EAW92839;EAW92840;NP_001273685;NP_037499;Q9UJX5;XP_005248216;XP_006714024 Hs.152173 1664313;1664315;1667031;1689462;1785078;2139198;2184419;5094864 ANAPC4;D4S2517E;D4S2679;RH92873;SHGC-154840;SHGC-24100;SHGC-50273;SHGC-59815 APC4 OTTHUMP00000123382;OTTHUMP00000218479;anaphase-promoting complex subunit 4;cyclosome subunit 4 APPROVED protein-coding ENSG00000053900 HGNC:19990 09505 606947 REVIEWED 1313636 ANAPC2 anaphase promoting complex subunit 2 A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 110583566 110597088 - 140069236 140083057 - 137174784 137188605 - 1580863;6480464;6907045 10230407;10318877;10500174;10548110;10718198;10793135;10922056;11076961;11285280;11340163;11438673;11535616;11691822;11739784;11742988;12070128;12234927;12477932;12956947;14508008;14593737;14657031;15029244;15164053;15231748;15489334;16287863;16319895;16364912;16648845;16921029;16964243;17187060;17403670;17443186;18485873;18854154;18976975;20080579;20360068;21043528;21135578;21139048;21145461;21186356;21439932;21549307;21768287;21890473;21900206;21903591;21906983;21937719;21963094;21987572;22190034;22193957;22280307;22505724;22939624;22939629;22990118;23007861;23078409;23443559;23667531;23708001;23979597;24163370;24250222;24804778;25043029;9469815;9637688;9811605 29882 B4DGH7;Q9UJX6 AB037827;ABBA01022747;AF191337;AK294601;AK296204;AL929554;AMYH02021925;BC001579;BC009487;BC032503;BC033579;BM925063;BU526961;CH471090;NM_013366 AAF05751;AAH01579;AAH09487;AAH32503;ABM81778;ABM84933;BAA92644;BAG57788;BAG58931;EAW88361;NP_037498;Q9UJX6 Hs.533262 1680713;1851107;2109889 RH75093;RH78795;SSNA1_7924 APC2;RP11-350O14.5 OTTHUMP00000022692;anaphase-promoting complex subunit 2;cyclosome subunit 2 APPROVED protein-coding ENSG00000176248 HGNC:19989 07367 606946 REVIEWED 1344930 ANAPC7 anaphase promoting complex subunit 7 This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 12 12 12 q24.11 110436800 110468040 - 110810705 110841535 - 110372900 110403737 - 1580863;6480464;6907045 10318877;10477750;10500174;10548110;10793135;10922056;11076961;11285280;11340163;11535616;11742988;12070128;12477932;12956947;14593737;14657031;14702039;15029244;15489334;15743504;16196087;16319895;16344560;16364912;16861917;16921029;17942546;18162579;18485873;18685082;18789487;18997788;19091741;19454010;19471022;19531213;19615732;19826003;19826416;20080579;20360068;21043528;21139048;21145461;21241890;21549307;21596315;21693764;21890473;21906983;21926987;21963094;21987572;22053931;22193957;22505724;22792066;22797925;22939629;22990118;23000965;23007861;23022380;23078409;23160376;23314748;23383273;23443559;23667531;23979597;24250222;24816145;25043029;8619474;9110174;9469815 51434 H0YIW2;H0YIX7;Q4KMX6;Q69YV3;Q9UJX3 ABBA01005098;ABBA01005099;ABBA01005100;ABBA01005101;ABBA01005102;ABBA01005103;AC144548;AF191340;AK021809;AL137586;AL157481;AMYH02027182;AMYH02027183;AMYH02027184;AY007104;BC002941;BC009498;BC017316;BC040130;BC098264;BC098295;BC098362;BC099732;BC111798;BC141848;BC148236;BG105587;CH471054;DB003237;NM_001137664;NM_016238;XM_005253903;XM_006719450;XR_243015 AAF05754;AAH02941;AAH09498;AAH17316;AAH98264;AAH98295;AAH98362;AAH99732;AAI11799;AAI41849;AAI48237;BAG51054;CAB70828;CAH10690;EAW97909;EAW97910;EAW97911;NP_001131136;NP_057322;Q9UJX3;XP_005253960;XP_006719513 Hs.719935 1673197;1740021;2122754;2133430;2152078;5017433 D12S1570;D12S2011;NIB1273;RH78491;STS-T76997;WI-12246 APC7 OTTHUMP00000211290;OTTHUMP00000211291;anaphase-promoting complex subunit 7;cyclosome subunit 7 APPROVED protein-coding ENSG00000196510 HGNC:17380 16233 606949 REVIEWED 1353092 ANCR Angelman syndrome chromosome region ASSOCIATED WITH Angelman Syndrome (inferred) 7240710 282 HGNC:482 105830 1314558 ANAPC5 anaphase promoting complex subunit 5 This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008] 12 12 12 q24.31 121383688 121428561 - 121746048 121792012 - 121308245 121354209 - 6480464;6907045 10318877;10500174;10548110;10793135;10922056;11076961;11285280;11340163;11401522;11535616;11742988;12070128;12477932;12956947;14593737;14657031;14702039;15029244;15082755;15302935;15489334;15761153;16169070;16319895;16364912;16861917;16921029;17827148;18162579;18485873;19531213;19826416;20080579;20360068;20686030;21043528;21139048;21145461;21241890;21549307;21596315;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22193957;22505724;22580462;22792066;22939629;22990118;23007861;23022380;23078409;23160376;23667531;23979597;24163370;24255178;25015289;25043029;7566098;9469815 51433 B4DFK4;F5GY68;F5GZ05;F5H0F9;F5H0N1;F5H3S5;H0YFB5;Q9UJX4 AA349724;ABBA01020157;ABBA01020158;ABBA01020159;ABBA01020160;AC048337;AC069209;AF191339;AI879332;AK025614;AK054779;AK294139;AK301197;AK315451;AMYH02027393;BC001081;BC001950;BC003095;BC006301;BC034243;BC045686;BX381618;BX537687;CH471054;NM_001137559;NM_016237;XM_005253900;XM_006719449 AAF05753;AAH01081;AAH01950;AAH06301;AAH34243;AAH45686;BAG51422;BAG57465;BAH13429;CAD97812;EAW98259;EAW98260;EAW98261;NP_001131031;NP_057321;Q9UJX4;XP_005253957;XP_006719512 Hs.7101 1653567;1707940;1746323;1746447;1848161;1848163;5125284 A001Z45;G19833;G64569;G64617;HSC2OG072;SHGC-34758;SHGC-82223 APC5 OTTHUMP00000240249;OTTHUMP00000240250;OTTHUMP00000240251;anaphase-promoting complex subunit 5;cyclosome subunit 5 APPROVED protein-coding ENSG00000089053 HGNC:15713 10453 606948 REVIEWED 1314740 ANGEL1 angel homolog 1 (Drosophila) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; atrazine; disodium selenite 14 14 14 q24.3 57292199 57317888 - 77248076 77292606 - 76787243 76826263 - 6480464;8554872 11943475;12477932;12508121;18029348;21906983;9872452 23357 G3V414;G3V437;G3V5C4;Q9UNK9 AB018302;ABBA01030670;ABBA01030671;AF111169;AF275805;AK025609;AK301069;AK301589;AL137268;AMYH02029554;AMYH02029555;AMYH02029556;BC028714;CH471061;DB452865;HG506397;NM_015305;XR_429300;XR_429301;XR_429302 AAD44362;AAH28714;BAA34479;BAG62676;BAG63079;CAB70667;EAW81261;EAW81262;EAW81263;NP_056120;Q9UNK9 Hs.497448 1666535;1673697;1740123;2174436 D14S905;G35980;RH44775;WI-14582 Ccr4e;FLJ60172;KIAA0759;RP11-488C13.5 OTTHUMP00000246196;protein angel homolog 1 protein-coding ENSG00000013523 HGNC:19961 13815 VALIDATED 1349500 ANG angiogenin, ribonuclease, RNase A family, 5 The protein encoded by this gene is an exceedingly potent mediator of new blood vessel formation. It hydrolyzes cellular tRNAs resulting in decreased protein synthesis and is similar to pancreatic ribonuclease. In addition, the mature peptide has antimicrobial activity against some bacteria and fungi, including S. pneumoniae and C. albicans. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes ribonuclease, RNase A family, 4 share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Aug 2014] 14 14 14 q11.1-q11.2 1013208 1023217 + 21152336 21162345 + 20684177 20694186 + 1580863;2325699;2325702;2325704;2325712;2325717;2325697;2325700;2325708;2317659;2325707;2325714;2317660;2325716;2325719;2325706;2325705;2325710;6480464;6892712;6892721;6892714;6892716;6892705;6892708;6892719;6892723;6892707;6892713;6892724;6892710;6892722;6892709;6771318;2307061;6892711;6892718;7240710;8554872;8699517 10421268;11299848;11948474;12653852;12705339;14748845;15236995;15329320;15776477;15912517;16478840;16501576;17462671;17823536;18462761;18808740;18978347;19177252;19178538;19276260;19666176;20629092;21091473;21848603;21916917;22190368;22331014;22449478;22748184;8665497;9119882;9166545;9539780;9748135 10103013;10413501;10648935;10649442;10999833;11374889;11438326;11468363;11751393;11752456;11782452;11847008;11851402;11919285;11984825;12168899;12209593;12477932;12515546;12548285;12770725;12842050;1400510;14593238;14671622;14756559;15064314;15067362;15128420;15166501;15182336;15489334;15557516;15558023;15735021;15737636;15979542;16169070;16322296;16461950;16490744;16567967;16712791;16937522;17113198;17125737;17207965;17703939;17886298;17900154;17991437;18087731;18636464;18852347;18936943;18955785;19158252;19160530;19253715;19262607;19287993;19332886;19363631;19423182;19625371;19631914;1978563;20045391;20105109;20137109;20174961;20301623;20452482;20472325;20484129;20577002;20673868;20838751;20923443;20952631;20955379;21085671;21103661;21154263;21209106;21364907;21375772;21439815;21528671;21539846;21621297;21711968;21778318;21800332;21808991;21919032;21988832;22148849;22194915;22266868;22292798;22292843;22372545;22384259;22438557;22526325;22633874;22694909;2276743;22940420;23229115;23231972;23351638;23379493;23409128;23665167;23851444;23977052;23989187;24122807;2424496;24337645;24356419;2440105;2457905;24659782;2479414;2646638;2730651;2742853;2866794;2866795;3470787;3619929;3663649;7679494;7945327;8127865;8159679;8448182;9122172;9245697;9311977;9461294;9707554;9918722 283 P03950;W0UV28 ABBA01061234;AF449647;AF449648;AF449649;AF449650;AF449651;AK313989;AL163636;AMYH02028826;AV646929;BC020704;BC054880;BC062698;BQ773604;CB157060;CB963791;CH471078;CR407633;FJ236304;HG328835;M11567;NG_008717;NG_033053;NM_001097577;NM_001145 AAA51678;AAH20704;AAH54880;AAH62698;AAL67710;AAL67711;AAL67712;AAL67713;AAL67714;ACI45236;ADQ32136;BAG36701;CAG28561;CDG31911;EAW66450;EAW66451;NP_001091046;NP_001136;P03950 Hs.283749 1668881;1741145;2185370 D14S1338;GDB:178381;RH1630 ALS9;HEL168;MGC22466;MGC71966;RAA1;RNASE4;RNASE5 OTTHUMP00000164019;OTTHUMP00000164020;OTTHUMP00000164021;RNase 5;angiogenin;epididymis luminal protein 168;ribonuclease 5;ribonuclease A A1 APPROVED protein-coding ENSG00000214274 HGNC:483 00105 105850;611895 REVIEWED 1601837 ANGEL2 angel homolog 2 (Drosophila) INTERACTS WITH copper(2+) sulfate; methotrexate; valproic acid 1 1 1 q32.3 186387057 186410696 - 213165524 213189168 - 212992182 213015826 - 6480464 11943475;12477932;14702039;19322201;21139048;21906983;21963094;24163370;24250222;24654937;24778252 90806 B7Z5T0;Q5VTE6;Q96AL9 ABBA01048159;ABBA01048160;AF510741;AI658922;AK022855;AK093947;AK294479;AK295116;AK299208;AK299365;AK310946;AK311276;AL079275;AL592449;AMYH02002652;AMYH02002653;AY468376;BC016966;BC047469;BX103687;CH471100;DA718585;DC395916;NM_001300753;NM_001300755;NM_001300757;NM_001300758;NM_144567;NR_125333;XM_005273344;XM_005273345;XM_005273346;XM_005273347;XM_005273349;XM_006711616;XR_247045 AAH16966;AAH47469;AAM44053;BAH11783;BAH11980;BAH12969;BAH13016;EAW93365;EAW93366;EAW93367;EAW93368;EAW93369;EAW93370;NP_001287682;NP_001287684;NP_001287686;NP_001287687;NP_653168;Q5VTE6;XP_005273401;XP_005273402;XP_005273403;XP_005273404;XP_005273406;XP_006711679 Hs.157078 1644382;1679275;1700014;1734230;1769377;2179428;5015861;5015879;5020948;5024761;7185938 D10S16;D1S1747;G35510;GDB:314949;RH103619;RH36905;RH94312;SHGC-76304;SHGC-76315;WI-14782 Ccr4d;FLJ12793;KIAA0759L OTTHUMP00000035020;OTTHUMP00000035021;protein angel homolog 2 protein-coding ENSG00000174606 HGNC:30534 14279 VALIDATED 733136 ANGPT1 angiopoietin 1 Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010] 8 8 8 q23.1 104448513 104696524 - 108261710 108510254 - 107249482 107498026 - 704373;1580863;1578337;704403;1578345;1578336;1626164;1643339;1643335;1643336;1601496;1643338;1643340;1626162;1626163;1626167;1626168;1626157;2313818;2293864;2293863;2293883;2313817;2293852;2316067;2316068;2316069;2316041;6480464;6907045;8554872 10780674;11326698;11549276;11822892;12000720;12138242;12768384;14759414;15047628;15364619;15459484;15517881;15714275;15754349;16389943;16626513;16942942;17294737;17295646;17356562;17505508;17637706;17935226;18073453;18285514;18344375;19885826 10051567;10218485;10343124;10514510;10706866;10766762;10854239;10944458;11165944;11729102;11776343;11827452;11856872;11870550;11891175;11967990;12168954;12213874;12239588;12243755;12402160;12427764;12477932;12612904;12649156;12717391;12810673;12816861;12890486;12958144;12958167;14561809;14597243;14665640;14672554;14715662;14749497;14978158;14991531;15001532;15019820;15094228;15161644;15198927;15213103;15242771;15284220;15381091;15453096;15498854;15542434;15562207;15692086;15694363;15746084;15769741;15781448;15823283;15851516;15892598;16000309;16020388;16049136;16229183;16354591;16547766;16614513;16645159;16690881;16723371;16803467;16830384;16917117;16956819;17039426;17168735;17322632;17341311;17466926;17525262;17558601;17562701;17603084;17724803;17728252;17785951;17803352;17943167;18035072;18080866;18092380;18199826;18269030;18310225;18326231;18330951;18382887;18425120;18664247;18675456;18807212;18823985;18991494;18996102;19010534;19028450;19082480;19082594;19086654;19127216;19148554;19199708;19223473;19297368;19300530;19301945;19322669;19339077;19351722;19424712;19460752;19476937;19478794;19487284;19543148;19567053;19615361;19674970;19689429;19733541;19815705;19875484;19916173;19919521;19922791;19954476;20036815;20056911;20072144;20098680;20099495;20185425;20208992;20346360;20378606;20471887;20554518;20602615;20629092;20696814;20863203;21042788;21140268;21168819;21179479;21212269;21273558;21300047;21380565;21400522;21660578;21672190;21710361;21778249;21849906;21858121;21878936;21884468;21885850;21905000;21905955;21906428;21948244;21963094;22000910;22015631;22033412;22095586;22143796;22205728;22229541;22235284;22334788;22391155;22449617;22483377;22496856;22583143;22642477;22867989;22901561;22949515;23024612;23099117;23123737;23190105;23232696;23288163;23302768;23382691;23504320;23592718;23652985;23686433;23770419;23785018;23835996;23840065;23989887;24010773;24126820;24315451;24569814;7584026;7584028;7642106;8980223;8980224;9204896;9525952;9545648;9560344;9660821;9723709 284 B4DTQ9;E5RFF4;E7ERK4;Q15389 AB084454;ABBA01037696;AC091010;AK300319;AK304717;AL700429;AMYH02018582;AMYH02018583;AP000428;AP003480;AW069541;AY055342;AY121504;AY124380;BC029406;BC152411;BC152419;BX648814;CH471060;CX867178;D13628;NG_029405;NM_001146;NM_001199859;U83508 AAB50557;AAH29406;AAI52412;AAI52420;AAI66662;AAL59669;AAM81745;AAM92271;ACE86690;ACE87374;BAA02793;BAB91325;BAG62071;BAG65481;CAI45984;EAW91909;EAW91910;EAW91911;EAW91912;NP_001137;NP_001186788;Q15389 Hs.369675 1342148;1672825;1712699;1848002;2218990;5015619;5094713 ANGPT1__4215;Angpt1;D11S3114;D8S383;RH121046;RH17369;RH25244 AGP1;AGPT;ANG-1;ANG1 OTTHUMP00000227592;OTTHUMP00000227599;OTTHUMP00000227600;OTTHUMP00000227626;angiopoietin-1 APPROVED protein-coding ENSG00000154188 HGNC:484 03392 601667 REVIEWED 730844 ANGPT2 angiopoietin 2 The protein encoded by this gene is an antagonist of angiopoietin 1 (ANGPT1) and endothelial TEK tyrosine kinase (TIE-2, TEK). The encoded protein disrupts the vascular remodeling ability of ANGPT1 and may induce endothelial cell apoptosis. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 6334650 6398296 - 6357172 6420784 - 6499651 6563263 - 1580863;1300283;2313815;2313934;2314171;2314177;2314180;2314189;2314193;2314210;1601505;1601496;2314294;2293853;2314178;2314185;2314207;2314239;2314205;2314216;2314174;2314204;2314206;1601493;2314213;2313816;2314233;2314184;2313817;1626166;2293852;6480464 10373119;12737621;12768384;12861074;15047628;15135347;15209761;15637314;15643138;15705099;15823283;16520919;16628643;16714360;16750245;17065527;17295646;17494864;17692314;17849463;18272601;18615861;18692629;18751736;18929864;18929866;18978178;19070926;19672036;19712575 10051567;10343124;10514510;10766762;10964717;11447223;11578860;11856872;11861279;12138242;12176040;12213874;12427764;12477932;12612904;12717391;12810677;14507641;14556828;14568550;14702352;14726409;14767538;14768007;14976056;14991531;15002056;15003510;15094228;15112366;15127326;15161644;15198927;15213103;15284088;15284220;15375511;15489334;15498854;15542434;15562207;15642468;15694966;15734895;15743799;15769741;15893672;16009172;16020388;16129411;16182107;16229183;16242072;16290311;16338068;16344560;16417407;16424009;16458662;16465407;16525658;16538528;16614513;16629644;16690881;16714355;16723371;16790091;16803467;16830384;16877277;16956819;16978237;16978614;17003480;17030814;17141400;17167981;17200776;17258205;17287278;17322632;17341311;17361220;17395886;17409768;17505039;17513791;17558601;17601353;17630849;17673702;17704802;17724803;17785951;17828495;17904634;17928052;17931370;17943167;18006475;18092380;18182823;18269030;18310225;18382887;18483397;18516587;18541195;18564921;18568888;18644593;18664247;18675456;18720385;18727515;18791490;18807212;18952457;18957536;18991494;18996102;19010534;19018553;19082594;19086654;19102939;19112163;19164323;19223473;19226440;19228739;19271210;19300530;19339208;19341361;19351722;19403561;19435449;19438587;19476937;19478794;19499513;19502452;19539650;19543148;19551369;19567053;19616847;19728062;19815705;19875484;19913849;19922791;19954476;20067780;20068079;20072144;20088942;20099495;20179005;20208992;20213583;20348331;20359117;20379614;20382847;20452482;20482750;20501615;20519501;20562294;20583134;20599737;20629092;20670479;20673868;20696814;20806109;20863203;21042788;21081932;21119365;21131273;21143700;21149250;21163858;21168819;21179479;21248670;21257790;21269615;21300047;21337734;21368233;21380565;21400522;21439064;21450636;21565611;21575447;21576085;21603628;21643812;21672190;21680733;21685330;21750433;21762624;21778249;21809353;21849906;21851472;21858121;21884204;21884468;21900206;21948244;21956768;21963094;22000910;22015631;22095586;22142364;22182412;22229541;22279570;22289349;22311497;22327175;22342979;22449617;22483260;22483377;22585576;22640261;22642477;22659681;22728324;22730375;22750392;22770562;22777681;22949515;22972016;22989097;22995870;23024612;23099117;23123737;23149917;23174599;23190105;23190218;23232696;23284823;23302768;23305976;23409162;23419030;23421785;23467610;23503679;23536671;23587231;23649549;23652985;23758184;23785018;23786639;23803577;23826161;23835996;23839000;23899926;23912396;23982687;23989887;24097873;24102428;24106271;24126820;24355874;24373251;24403060;24416201;24421076;24483146;24511140;8125298;9204896;9545648;9660821;9723709;9927494 285 E7EVQ3;O15123 AB009865;ABBA01007058;AC018398;AF004327;AF187858;AF218015;AJ289780;AJ289781;AK075219;AK225698;AK290070;AK310171;AK312541;AMYH02017287;AMYH02017288;AY563557;BC022490;BC126200;BC126202;BC143902;CH471153;CS322905;DA829327;NG_016619;NG_029483;NM_001118887;NM_001118888;NM_001147 AAB63190;AAF76526;AAG17257;AAI26201;AAI26203;AAI43903;AAT69979;ADR83012;BAA95590;BAF82759;BAG35440;CAC08179;CAC08180;CAK96154;EAW80472;EAW80473;EAW80474;NP_001112359;NP_001112360;NP_001138;O15123 Hs.583870 1676612;1707412;1721979;1765359;2140366;2149054;2187306;5020948;5022578;5037552 D1S1423;D8S2279;G35510;G59875;RH47768;RH48380;RH93262;SHGC-148851;SHGC-84494;STS-AA011655 AGPT2;ANG-2;ANG2 OTTHUMP00000115423;OTTHUMP00000224502;OTTHUMP00000224503;Tie2-ligand;angiopoietin-2;angiopoietin-2B;angiopoietin-2a APPROVED protein-coding ENSG00000091879 HGNC:485 03563 601922 REVIEWED 1347249 ANGPTL1 angiopoietin-like 1 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008] 1 1 1 q25.2 151927509 151949057 - 178818670 178840215 - 178849535 178871236 - 1580863;6480464;8554872 10025962;10051567;10318855;10473614;12477932;12624729;15284220;15489334;15542434;15940350;15950186;16303743;16710414;18182823;18644593;19199708;20819778;23434592;24097068;8125298;8889548;9286704 9068 O95841 AB056476;ABBA01027826;AF086266;AF107253;AK223467;AK300218;AL355520;AMYH02002223;AMYH02002224;AY358278;BC047670;BC050640;BM710120;BX499002;CD356427;CH471067;NM_004673;XM_005245577;XR_241102 AAD19608;AAH50640;AAQ88645;BAB40691;BAD97187;BAG61986;EAW91032;EAW91033;NP_004664;O95841;XP_005245634 Hs.591474 1699170;1774355;1797278;2156716 ANGPTL1_2107;RH103165;SHGC-57465;SHGC-75984 ANG-3;ANG3;ANGPT3;ARP1;AngY;KIAA0351;UNQ162;dJ595C2.2 OTTHUMP00000033048;OTTHUMP00000038514;angioarrestin;angiopoietin 3;angiopoietin Y1;angiopoietin-3;angiopoietin-like protein 1;angiopoietin-related protein 1;dJ595C2.2 (angiopoietin Y1) APPROVED protein-coding ENSG00000116194 HGNC:489 04851 603874 REVIEWED 1316792 ANGPT4 angiopoietin 4 Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The mechanism by which they contribute to angiogenesis is thought to involve regulation of endothelial cell interactions with supporting perivascular cells. The protein encoded by this gene functions as an agonist and is an angiopoietin. [provided by RefSeq, Jul 2008] 20 20 20 p13 949565 993228 - 852763 896977 - 872120 916334 - 1580863;6480464;8554872 10025962;10051567;10218486;10343124;11076863;11780052;11856872;12477932;12624729;12958144;15198927;15284220;15489334;15542434;15851516;16790085;17724803;19204726;19913121;20596041;20628086;20819778;20823154;21603628;22267746;24760148 51378 Q9Y264 ABBA01053760;ABBA01053761;AF074332;AF113708;AK304756;AL050325;AL161939;AMYH02036562;BC111976;BC111978;CH471133;CS322907;CS322909;KF456786;KF456787;NM_015985;XM_005260720;XM_006723567 AAD21587;AAD31728;AAI11923;AAI11977;AAI11979;AAI18496;BAG65511;CAK96135;CAK96155;EAX10654;NP_057069;Q9Y264;XP_005260777;XP_006723630 Hs.278973 2109035 ANGPT4_9713 AGP4;ANG-3;ANG-4;ANG4;MGC138181;MGC138183 OTTHUMP00000029947;angiopoietin-3;angiopoietin-4;dJ824F16.2 (angiopoietin 4) APPROVED protein-coding HGNC:487 04747 603705 REVIEWED 733949 ANGPTL2 angiopoietin-like 2 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008] 9 9 9 q34 100504236 100539652 - 129849628 129885044 - 127087349 127122794 - 1580863;6480464 10473614;12477932;12624729;12975309;15164053;15489334;16303743;17207965;17347581;18593905;19056867;19723494;20304962;21983347;22281496;22345152;22556334;22966088;23333801;23469106;23602322;23739531;24448647;24465594;24526691;8619474;9110174 23452 Q8NCH7;Q9UKU9 ABBA01043824;AF007150;AF125175;AK074726;AK075026;AK312876;AL356862;AL598400;AMYH02021676;AY358274;BC012368;CH471090;NM_012098;XM_006717030 AAD55357;AAH12368;AAQ88641;ADQ32778;BAC11164;BAC11358;BAG35727;EAW87649;EAW87650;EAW87651;EAW87652;NP_036230;Q9UKU9;XP_006717093 Hs.653262 1763143;1795356;2117154;5017845;5111056 ANGPTL2;ANGPTL2_1565;RH12756;RH66020;SHGC-146875 ARP2;HARP;MGC8889 OTTHUMP00000022159;OTTHUMP00000022160;angiopoietin-like protein 2;angiopoietin-related protein 2 APPROVED protein-coding ENSG00000136859 HGNC:490 05415 605001 REVIEWED 1346260 ANGPTL3 angiopoietin-like 3 This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metablism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Feb 2013] 1 1 1 p31.3 61352392 61360385 + 63063158 63071976 + 62597487 62606305 + 1580863;1578347;1578346;2314234;6480464;7240710;8554872;8699517 12672813;12909640;15094378 10644446;11877390;12477932;12518032;12565906;12975309;15340161;15489334;16335952;16505486;16531751;17110602;17207965;17681148;18063851;18193043;18193044;18279878;18535744;18596051;18804459;19028676;19060906;19075393;19148283;19282754;19318355;19474742;19487539;19540497;19542565;19656773;19826106;19890028;19936222;20139978;20160193;20360639;20570916;20571754;20595410;20679960;20686565;20714348;20837471;20855565;20864672;20942659;20972250;21691831;21983347;22062970;22095935;22155345;22247256;22286219;22659251;22732211;22896670;22916037;23314748;23661675;23839332;23978712;24097068;24626437;24768220 27329 Q9Y5C1 ABBA01074595;AF152562;AK289426;AK315304;AL138847;AMYH02001143;AY358273;AY569015;BC007059;BC058287;BG562555;BG562798;BG564770;CH471059;FJ515851;NG_028169;NG_033073;NM_014495 AAD34156;AAH07059;AAH58287;AAQ88640;AAS66984;ACS13743;ADQ32112;BAF82115;BAG37708;EAX06583;NP_055310;Q9Y5C1 Hs.209153 1337745;1670676;1797280;2166475 ANGPTL3_2597;D1S3572;D3S2407;RH46994 ANG-5;ANGPT5;ANL3;FHBL2 OTTHUMP00000010719;angiopoietin 5;angiopoietin-5;angiopoietin-like protein 3;angiopoietin-related protein 3 APPROVED protein-coding ENSG00000132855 HGNC:491 10381 604774;605019 REVIEWED 1351491 ANGPTL5 angiopoietin-like 5 FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; silicon dioxide 11 11 11 q22.1 98922208 98948056 - 101761405 101787253 - 101890674 101916522 - 737633;6480464 12477932 12624729;12975309;15489334;21559522 253935 E9PKF7;Q86XS5 ABBA01039954;AK291523;AMYH02025471;AMYH02025472;AP003383;AY169281;AY358827;BC049170;BC053957;CH471065;NM_178127;XM_006718808 AAH49170;AAO38749;AAQ89186;BAF84212;EAW67006;NP_835228;Q86XS5;XP_006718871 Hs.318370 1681991;1718497 RH122451;RH93179 OTTHUMP00000235685;angiopoietin-like protein 5;angiopoietin-related protein 5;fibrinogen-like protein-coding ENSG00000187151 HGNC:19705 09638 607666 VALIDATED 1344384 ANGPTL4 angiopoietin-like 4 This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013] 19 19 19 p13.3 8285662 8295909 + 8429011 8439257 + 8364127 8374375 + 1625353;1625354;1580863;1578349;1578348;6480464;7240710 12401877;15837923;15863837;17210919 10698685;10866690;11953136;12015030;12438262;12477932;12707035;12975309;14570927;14583458;15190076;15284220;15292369;15489334;15579652;15870027;16049480;16081640;16272564;16303743;16531751;17049073;17068295;17088546;17130448;17207965;17322881;18029348;18340008;18394990;18433990;18442626;18599063;18634015;18728224;18809343;18940399;18974381;19019854;19028676;19060906;19074989;19246456;19270337;19318355;19342599;19542565;19628874;19775228;19826106;19878569;19890028;19913121;20025870;20162021;20454689;20595396;20628086;20660728;20664963;20667978;20686565;20729546;20829508;20927337;20972945;21109191;21151138;21212665;21217681;21308352;21397862;21398697;21421336;21489049;21518214;21596930;21674552;21709421;21714923;21841165;21860410;21937683;21966511;22078753;22086875;22307217;22458843;22462789;22549372;22573825;22639947;22661548;22729570;22732211;22773878;22791755;22820186;22972030;23056264;23183503;23208498;23283507;23319744;23339868;23387337;23518684;23617883;23640487;23925665;23959876;23960078;24097068;24114199;24317117;24324678;24505142;24591600;24626437;8125298 51129 M0QZ51;M0R0N8;M0R2X8;M0R369;M0R3A2;Q9BY76 AB056477;ABBA01010849;AC136469;AF153606;AF169312;AF202636;AK222489;AK222524;AK303269;AMYH02035442;AW954426;AY358275;BC023647;BG424907;BP397348;CH471139;NG_012169;NM_001039667;NM_139314;NR_104213;XM_005272484;XM_005272485 AAD41088;AAF62868;AAG22490;AAH23647;AAQ88642;ADQ32223;BAB40692;BAD96209;BAD96244;BAG64351;EAW68930;EAW68931;NP_001034756;NP_647475;Q9BY76;XP_005272541;XP_005272542 Hs.9613 1681464;1754013;1794942;1797282;2118272;2126971;5019681 ANGPTL4_1969;D19S1090;G32455;PMC85983P1;RH11623;RH67144;SHGC-132057 ANGPTL2;ARP4;FIAF;HARP;HFARP;NL2;PGAR;TGQTL;UNQ171;pp1158 PPARG angiopoietin related protein;angiopoietin-like protein 4;angiopoietin-related protein 4;fasting-induced adipose factor;hepatic angiopoietin-related protein;hepatic fibrinogen/angiopoietin-related protein;peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein APPROVED protein-coding ENSG00000167772 HGNC:16039 16173 605910;615881 REVIEWED 1322443 ANGPTL6 angiopoietin-like 6 INVOLVED IN angiogenesis (inferred); cell differentiation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 19 19 19 p13.2 10098503 10108914 - 10203013 10215710 - 10092337 10102888 - 6480464 12477932;12871997;12975309;14764539;15231747;16335952;16806062;18464913;19447061;20673930;21460784;22406517;23070965;23400010;23718665;23905605;24250222 83854 K7EKF6;Q8NI99 AB054064;ABBA01029947;ABBA01029948;AC020931;AF230330;AMYH02035484;AY358276;BC142632;CH471106;NM_031917;XM_005260091 AAI42633;AAK06404;AAQ88643;BAB91248;EAW84071;EAW84072;NP_114123;Q8NI99;XP_005260148 Hs.712850 1650218;1777662;2218724 ANGPTL6__4301;D19S1125;RH11710 AGF;ARP5 angiopoietin-like protein 6;angiopoietin-related growth factor;angiopoietin-related protein 5;angiopoietin-related protein 6 protein-coding ENSG00000130812 HGNC:23140 12453 609336 VALIDATED 1350833 ANGPTL7 angiopoietin-like 7 INVOLVED IN response to oxidative stress (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH aflatoxin B1; raloxifene; tert-butyl hydroperoxide 1 1 1 p36 10361738 10368376 + 11249346 11256038 + 11189289 11195981 + 1580863;6480464 11426320;11682471;12107410;12477932;12975309;15340161;15489334;16710414;17695521;18421092;21199193;21697133;21832049;8026862;8144038;9727400 10218 O43827 AB593026;AB593027;ABBA01003045;AJ300188;AK313716;AL049653;AL391561;AMYH02000285;AY358301;BC001881;BT009802;CA391009;CH471130;DQ012507;NG_033239;NM_021146;Y16132 AAH01881;AAP88804;AAQ88668;AAY22173;ABM83481;ABM86692;BAG36459;BAJ83980;BAJ83981;CAA76078;CAC15571;EAW71685;NP_066969;O43827 Hs.146559 2130327 SHGC-74210 AngX;CDT6;RP4-647M16.2;dJ647M16.1 OTTHUMP00000001986;angiopoietin-like factor (CDT6);angiopoietin-like protein 7;angiopoietin-related protein 7;cornea-derived transcript 6 protein protein-coding ENSG00000171819 HGNC:24078 10818 VALIDATED 6483645 ANHX anomalous homeobox ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 12 12 12 q24.33 133495083 133512684 - 133794898 133812422 - 133218312 133236220 - 11181995;14702039;16344560 647589 E9PGG2 ABBA01042527;AC226150;AK057223;AMYH02027598;CH471218;DB032853;KF455743;NM_001191054;XM_006719743 BAB71386;E9PGG2;EAW54785;NP_001177983;XP_006719806 Hs.703008 1341842;1683074;1766153 D12S2341;RH99248;SHGC-149528 anomalous homeobox protein;hCG2007354;uncharacterized protein LOC647589 protein-coding ENSG00000227059 HGNC:40024 VALIDATED 1320055 ANK1 ankyrin 1, erythrocytic Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008] 8 8 8 p11.1 40459268 40702528 - 41510744 41754280 - 41653225 41896762 - 1599109;1599110;1578350;1580863;6480464;7240710;8554872;8699517 8640229;9202331;9378703 10893266;10910934;11222639;11372755;11427698;12019270;12130521;12409278;12444090;12456646;12477932;12527750;12543979;12631729;12719424;15040428;15051494;15489334;15929114;16580865;16597699;16718373;16762928;1689849;16962094;17128827;17207965;17520478;17716929;17720975;1833445;18768923;18987618;20379614;20479128;20858683;21071415;21099109;21177872;2137557;2141335;21493712;22348230;22424883;22456796;22573887;22968456;23013433;23457408;24654937;2968981;2970468;2971657;379653;492324;6449514;7505012;8125298;8159688;8227202;8385102;8681137;8703812;9024692;9235914;9430667;9519902;9587054;9628825;9804856 286 B3KX39;C9JN86;H0YAY8;H0YBS0;P16157;Q6PK32 AA404587;AB209418;ABBA01021136;ABBA01021137;ABBA01021138;AC027702;AC113133;AI167814;AI684839;AK126647;AK129864;AK223578;AMYH02017883;BC007930;BC014467;BC030957;BC117121;BX647936;CH471080;F28948;KF495800;KF511071;M28880;N63745;NG_012820;NM_000037;NM_001142445;NM_001142446;NM_020475;NM_020476;NM_020477;NM_020478;NM_020480;S82671;U49691;U50092;U50133;X16609;XM_005273476 AAA51732;AAB46776;AAB47804;AAB47805;AAH07930;AAH30957;AAI17122;AAI56402;ADQ32237;BAD92655;BAD97298;BAG54351;CAA34610;CAA34611;EAW63241;EAW63242;EAW63243;EAW63244;EAW63245;EAW63246;EAW63247;EAW63248;EAW63249;EAW63250;NP_000028;NP_001135917;NP_001135918;NP_065208;NP_065209;NP_065210;NP_065211;NP_065213;P16157;XP_005273533 Hs.654438;Hs.667377;Hs.708861 1666738;1670319;1675017;1681187;1689067;1694670;1716737;1721389;1730791;1754039;1761021;1855025;1855260;2115674;2126501;2150605;2152733;2156708;2165580;2180189;7184748 D8S2039;D8S2070;D8S2329;D8S311;D8S329;G19345;G43516;G59696;GDB:178523;RH121660;RH45454;RH46517;RH69660;RH79857;RH91316;SHGC-12309;SHGC-132081;SHGC-144984;STS-W88737;WI-11722 ANK;ANK-1;SPH1;SPH2 OTTHUMP00000196860;OTTHUMP00000196861;OTTHUMP00000196862;OTTHUMP00000196863;OTTHUMP00000196864;OTTHUMP00000225819;OTTHUMP00000225820;OTTHUMP00000225822;ankyrin-1;ankyrin-R;erythrocyte ankyrin APPROVED protein-coding ENSG00000029534 HGNC:492 01693 182900;612641 REVIEWED 2301773 ANKDD1B ankyrin repeat and death domain containing 1B INVOLVED IN signal transduction (inferred) 5 5 5 q13.3 70800866 70858526 + 74907301 74967671 + 75611476 75671846 + 15372022;20379614 728780 A6NHY2 ABBA01061945;ABBA01061946;AC010245;AK307154;AMYH02011590;AMYH02011591;AMYH02011592;CH471084;KC877026;NM_001276713 A6NHY2;EAW95766;NP_001263642 Hs.370455 1728963;1773239 D13Gor3;RH46462 OTTHUMP00000231493;ankyrin repeat and death domain-containing protein 1B;ankyrin repeat and death domain-containing protein ENSP00000345065 protein-coding ENSG00000189045 HGNC:32525 VALIDATED 1317291 ANK2 ankyrin 2, neuronal This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011] 4 4 4 q25-q27 111031065 111596545 + 113739239 114304896 + 112818083 113383740 + 1599109;1599110;734572;1599114;1599116;6480464;6767284;7240710;8554872;8699517 12571597;12949909;15178757;21859974;9202331;9378703 10579720;11149946;11449000;11781319;12477932;12527750;14593108;14657231;14702039;15075330;15146197;15262991;15310273;15611082;15647482;15851119;16253912;16292983;16597699;16864073;17043677;17081983;17161064;17178715;17242276;17456239;17474147;17940615;18052691;18275062;1830053;18303017;1833308;18782775;18790697;18832177;19098452;19109891;19913121;20031550;20080650;20195357;20332099;20379614;20471030;20573981;20628086;20682791;21139048;21890473;22219177;22778271;22861190;23142288;23569209;23720494;24315451;2968981;7485162;8253844;8619474;9110174;9832558 287 B7Z651;D6R9U4;D6RHC5;D6RHE1;D6RIY9;E9PCH6;E9PHW9;H0Y8X8;H0Y8Y2;H0Y931;H0Y933;H0YAG3;I6L894;Q01484 ABBA01063822;ABBA01063823;ABBA01063824;ABBA01063825;ABBA01063826;ABBA01063827;ABBA01063828;ABBA01063829;ABBA01063830;ABBA01063831;ABBA01063832;AC004057;AC017007;AC093617;AC093879;AC093900;AC108042;AF131823;AK021894;AK095596;AK128049;AK294720;AK299767;AK299815;AK299893;AK307601;AL706912;AMYH02009941;AMYH02009942;AMYH02009943;AMYH02009944;AMYH02009945;AMYH02009946;AMYH02009947;AMYH02009948;AMYH02009949;BC017986;BC047498;BC125235;BC125236;BQ716903;BQ890406;BX537758;BX538132;BX538239;CH471057;CN259048;DQ925692;DQ925693;M37123;NG_009006;NM_001127493;NM_001148;NM_020977;X56957;X56958;XM_005262942;XM_005262945;XM_005262948;XM_006714187;XM_006714188;XM_006714189;XM_006714190;XM_006714191;XM_006714192;XM_006714193;XM_006714194;Z26634 AAA62828;AAI25236;AAI25237;ABL59919;ABL59920;BAH11860;BAH13122;BAH13137;BAH13164;CAA40278;CAA40279;CAB42644;CAD97827;CAD98033;CAD98077;EAX06287;EAX06288;EAX06289;EAX06290;EAX06291;EAX06292;NP_001120965;NP_001139;NP_066187;Q01484;XP_005262999;XP_005263002;XP_005263005;XP_006714250;XP_006714251;XP_006714252;XP_006714253;XP_006714254;XP_006714255;XP_006714256;XP_006714257 Hs.620557 1339569;1649045;1652819;1656649;1660795;1661781;1668588;1674549;1677342;1678983;1696046;1704590;1705846;1707732;1708502;1710846;1714523;1754333;1765237;1775651;1777565;1858070;2136983;2177103;2217010;5022200;5022651 AFM186xb4;ANK2_3170;D11S2921;D4S2309;D4S2542E;L18426;NIB1562;RH119774;SHGC-11962;SHGC-132360;SHGC-14389;SHGC-148725;SHGC-23852;SHGC-23907;SHGC-24748;SHGC-50779;SHGC-59287;SHGC-59553;SHGC-67324;SHGC-79494;SHGC-81181;SHGC-82082;SHGC-83104;SHGC-83197;SHGC-84192;WI-19148;WIAF-2193 ANK-2;DKFZp686M09125;DKFZp686P0948;FLJ11832;FLJ38277;FLJ46169;LQT4;brank-2 OTTHUMP00000163833;OTTHUMP00000163834;OTTHUMP00000220392;OTTHUMP00000220393;OTTHUMP00000220397;OTTHUMP00000220398;OTTHUMP00000231464;ankyrin B;ankyrin, brain;ankyrin, nonerythroid;ankyrin-2;ankyrin-2, nonerythrocytic;brain ankyrin;non-erythroid ankyrin APPROVED protein-coding ENSG00000145362 HGNC:493 00110 106410;600919 REVIEWED 1318779 ANK3 ankyrin 3, node of Ranvier (ankyrin G) Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] 10 10 10 q21 55053717 55415045 - 61786056 62493284 - 60026298 60733526 - 734573;1580863;6480464;6767288;6767290;6767305;8699517;7240710;8554872 10915577;19306853;7665168 10893266;10907644;11781319;11807096;11950515;11997395;12036953;12507143;12805291;14694156;14702039;14757759;14761957;15231748;15342556;15611082;15823567;15931389;16377635;16385451;16775201;17033732;17074766;17370265;17373700;17620337;18163421;18180363;18635543;18711365;18768923;19088739;20185149;20351715;20379614;20386566;20636642;20877300;20936779;21037240;21139048;21304963;21395576;21438140;21676128;21702894;21767209;21893642;21926972;21926974;21972176;22118674;22180603;22182935;22328486;22498896;22647524;22688190;22688191;22850628;22865819;22986903;23109352;23129772;23390136;23453885;23715300;23796624;23898208;24108394;24457600;24529757;7836469;8666667 288 B1AQT1;D6RBY7;D6RF31;D6RFK6;D6RHY3;H0Y3A4;H0Y8Z4;H0Y951;H0Y9E9;H0YA66;H0YAH5;Q12955;Q8NAK2 AB209308;ABBA01019458;ABBA01019459;ABBA01019460;ABBA01019461;ABBA01019462;ABBA01019463;ABBA01019464;AC022390;AC023904;AK092361;AK092527;AK124230;AK126851;AK128784;AK292927;AK295661;AL136710;AL359267;AL359377;AL391707;AL592430;AL607065;AMYH02023173;AMYH02023174;AMYH02023175;AMYH02023176;AW451432;BG427669;BP216034;BP245303;BX537917;BX648574;CH471083;EF139851;NG_029917;NM_001149;NM_001204403;NM_001204404;NM_020987;U13616;XM_005269715;XM_005269716;XM_006717782;XM_006717783;XM_006717784;XM_006717785;XM_006717786;XM_006717787;XM_006717788;XM_006717789;XM_006717790;XM_006717791;XM_006717792;XM_006717793;XM_006717794;XM_006717795;XM_006717796;XM_006717797;XM_006717798;XM_006717799;XM_006717800;XM_006717801;XM_006717802;XM_006717803 AAA64834;ACE86862;ACE87550;BAC03910;BAC86721;BAD92545;BAF85616;BAG52538;BAG54022;BAG58523;CAB66645;CAD97900;CAI56716;EAW54199;EAW54200;EAW54201;EAW54202;NP_001140;NP_001191332;NP_001191333;NP_066267;Q12955;XP_005269772;XP_005269773;XP_006717845;XP_006717846;XP_006717847;XP_006717848;XP_006717849;XP_006717850;XP_006717851;XP_006717852;XP_006717853;XP_006717854;XP_006717855;XP_006717856;XP_006717857;XP_006717858;XP_006717859;XP_006717860;XP_006717861;XP_006717862;XP_006717863;XP_006717864;XP_006717865;XP_006717866 Hs.499725 1653049;1666446;1687572;1700520;1727541;1771653;1781878;1787518;1795358;1850045;2110881;2116790;2118990;2141123;2144123;2150169;2156712;2177184;2180377;2184186;2190501;5019679;5024761;5491936 A009D23;ANK3;ANK3_1373;D10S250E;EST12B1;G15868;G17407;G32447;G63028;RH103881;RH15705;RH15734;RH36905;RH64832;RH67964;RH93542;SHGC-105138;SHGC-12959;SHGC-155440;SHGC-2729;SHGC-30886;SHGC-34120;WI-11051;WI-15992 ANK-3;FLJ45464;MRT37 ANKYRIN-G;OTTHUMP00000019653;OTTHUMP00000019656;OTTHUMP00000217458;OTTHUMP00000217575;ankyrin G119;ankyrin-3;ankyrin-3, node of Ranvier APPROVED protein-coding ENSG00000151150 HGNC:494 02715 600465;615493 REVIEWED 1604469 ANKDD1A ankyrin repeat and death domain containing 1A INVOLVED IN signal transduction (inferred); INTERACTS WITH (-)-demecolcine; 5-aza-2'-deoxycytidine; benzene 15 15 15 q22.31 42082165 42129108 + 65204095 65251042 + 64911902 64958700 + 6480464 12477932;22139419 348094 D6RD28;E9PHA0;Q495B1;Q6PI29;Q8TAJ8 ABBA01038865;AC069368;AC103691;AK075298;AK098736;AK307698;AMYH02030616;AMYH02030617;BC027350;BC042002;BC047571;BC047607;BC101273;BC101274;BC101275;BC101276;BC110610;CH471082;DR004550;NM_182703 AAH27350;AAH47607;AAI01274;AAI01275;AAI01276;AAI01277;BAC05399;BAC11532;EAW77702;EAW77703;NP_874362;Q495B1 Hs.207157 1673870;1673872;1738961;1767629;2133937;5020948;5109281 A008V12;D15S553;D15S859;D1S1425;G35510;RH44574;SHGC-33583 FLJ18078;FLJ25870;MGC120305;MGC120306;MGC120307 OTTHUMP00000164083;OTTHUMP00000164131;OTTHUMP00000220561;ankyrin repeat and death domain-containing protein 1A protein-coding ENSG00000166839 HGNC:28002 14178 VALIDATED 1603564 ANKAR ankyrin and armadillo repeat containing ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH melphalan; potassium dichromate (ortholog) 2 2 2 q32.2 184135616 184206285 + 190539018 190625919 + 189674292 189761193 + 6480464;8554872 12477932;14702039;15110750;21565611;23251661 150709 E7EWS1;Q70AK8;Q7Z5J8 ABBA01062379;ABBA01062380;AC012488;AC013468;AJ549812;AJ605761;AK027836;AK058144;AK098551;AK126073;AK307328;AMYH02005428;AMYH02005429;BC037215;BC044907;BC047413;CH471058;NM_144708;XR_241296;XR_427074 AAH44907;AAH47413;BAB71684;BAC05330;BAC86425;CAD71147;CAE53955;EAX10895;EAX10897;NP_653309;Q7Z5J8 Hs.60772;Hs.655700 1645415;1685864;1856971 RH11855;RH92442;SHGC-52566 FLJ25415 OTTHUMP00000205603;OTTHUMP00000205619;ankyrin and armadillo repeat-containing protein protein-coding ENSG00000151687 HGNC:26350 609803 VALIDATED 1312470 ANKEF1 ankyrin repeat and EF-hand domain containing 1 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; copper(2+) sulfate 20 20 20 p12.2 10085809 10107527 + 10015697 10037407 + 10035049 10056759 + 1580863;6480464;8554872 11780052;12477932;14702039;17142250;20211142;21906983;23455924 63926 Q8TCA8;Q9NU02 ABBA01053932;AK025322;AK074463;AK097689;AL109754;AMYH02036694;BC011591;BC022878;BC028189;BI562273;BI826033;CH471133;HI573924;HI573926;NM_022096;NM_198798;XM_005260792 AAH22878;ABM81831;ABM84984;BAB15111;BAG53512;CBX47451;CBX47452;EAX10355;NP_071379;NP_942093;Q9NU02;XP_005260849 Hs.70903 1339840;1754073;2114026;2115015 AB072772;D20S162;RH47929;SHGC-132109 ANKRD5;FLJ21669;dJ839B4.6 OTTHUMP00000030262;OTTHUMP00000030263;ankyrin repeat and EF-hand domain-containing protein 1;ankyrin repeat domain 5;ankyrin repeat domain-containing protein 5 APPROVED protein-coding HGNC:15803 10652 VALIDATED 1320021 ANKFY1 ankyrin repeat and FYVE domain containing 1 This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012] 17 17 17 p13.3 4078241 4178752 - 4066665 4167274 - 4163371 4263979 - 6480464;8554872 10092534;10574462;10940552;12168954;12477932;14702039;15328530;16344560;17273843;17897319;18029348;18976975;19056867;19615732;20562859;21139048;21145461;21628590;21890473;22053931;22284051;22505724;22863883;22952844;23000965;23184937;24039173;24102721;24457600;24816145;8125298 51479 B3KPZ0;I3L1Z9;I3L3P8;K7EPT2;Q9P2R3 AB033081;AB037360;AB073897;ABBA01054755;ABBA01054756;ABBA01054757;ABBA01054758;ABBA01054759;AC087292;AC087742;AK025483;AK025717;AK025960;AK057047;AK074324;AK091008;AK225170;AK292930;AK302712;AL706226;AMYH02032817;AMYH02032818;AMYH02032819;BC052308;BC060812;CH471108;CR933717;DA856905;KF510424;NM_001257999;NM_016376;NR_047571;XM_005256679;XM_006721544;XR_429815 AAH52308;AAI48356;AAI52992;BAA86569;BAA90300;BAF85619;BAG51852;BAG63933;CAI46247;EAW90448;EAW90449;EAW90450;NP_001244928;NP_057460;Q9P2R3;XP_005256736;XP_006721607 Hs.696087 1671472;1673031;1699004;1708520;1724973;1733392;5019591;5092432;5092444;5092462 D14S567;G54287;G54294;G54297;G54313;RH103073;RH118775;SHGC-36655;SHGC-85035;WI-12317 ANKHZN;BTBD23;DKFZp686M19106;KIAA1255;ZFYVE14 Rabankyrin-5;ankyrin repeat and FYVE domain-containing protein 1;ankyrin repeat hooked to zinc finger motif;ankyrin repeats hooked to a zinc finger motif APPROVED protein-coding ENSG00000185722 HGNC:20763 09717 607927 REVIEWED 1604222 ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH ethyl methanesulfonate; hydralazine; methyl methanesulfonate 17 17 17 q22 50692552 51021724 + 54230836 54560007 + 56153475 56511558 + 6480464;8554872 14702039;18391950;20379614;21668797;23936387 162282 H3BM45;I3L0N6;Q8N957 ABBA01041297;ABBA01041298;ABBA01041299;ABBA01041300;ABBA01041301;ABBA01041302;AC006600;AC006925;AC015724;AK095654;AMYH02033660;AMYH02033661;CH471109;NM_153228;XM_006721728 BAC04599;EAW94530;EAW94531;EAW94532;NP_694960;Q8N957;XP_006721791 Hs.673040 1335357;1708118;1713481;1753935;2135784 D17S669;D17S913;RH120224;SHGC-108145;SHGC-81459 FLJ38335 OTTHUMP00000207114;ankyrin repeat and fibronectin type-III domain-containing protein 1 protein-coding ENSG00000153930 HGNC:26766 08238 VALIDATED 734405 ANKH ANKH inorganic pyrophosphate transport regulator This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008] 5 5 5 p15.1 14728867 14895594 - 14704909 14871887 - 14704800 14871778 - 734569;734571;734570;634632;734964;1580863;6480464;7240710;8554872;8699517 10894769;11326272;11326338;12297987;12861042 10610710;10997877;12185249;12297989;12477932;12632434;12707589;12975309;13130483;14558096;14702039;15461680;15474385;15489334;15780964;15818664;16344560;16724232;17147692;17186460;17403715;17563703;17950726;18299954;18821330;19369455;19419319;19449425;19888898;20231843;20301634;20358596;20379614;20646567;20943778;21149338;21163940;21811784;21906983;21963094;21988832;22003394;22089454;22150416;22437419;22647861;23421944;23612078;23726953;23769559;24204828;24293574;8125298;8528213;9382103;9915952 56172 D6RGI5;Q9HCJ1 AB046801;ABBA01020638;ABBA01020639;ABBA01020640;AC010491;AC016575;AC025456;AF274753;AK001799;AK054966;AK130676;AK222631;AK315012;AMYH02010901;AMYH02010902;AMYH02010903;AY358503;BC009835;BC014526;BQ008340;BU193060;CH471102;DA126651;NG_008273;NM_054027;XM_006714483 AAF88039;AAH09835;AAH14526;AAQ88867;ABM83514;ABM86732;BAB13407;BAD96351;BAG37504;BAG50976;EAX08034;EAX08035;NP_473368;Q9HCJ1;XP_006714546 Hs.156727 1651183;1664833;1700546;1701356;1719281;1735532;1768585;2129384;2148542;2154843;2155027;2168550;2170606;5015861;5092986;7185938 A004S29;A009D34;D10S16;D5S1665E;D5S2663;G32452;IB363;RH103894;RH104308;RH123363;RH12671;RH16357;SHGC-35145;WI-15017;WI-18203 ANK;CCAL2;CMDJ;CPPDD;FLJ27166;HANK;MANK OTTHUMP00000115641;ankylosis, progressive homolog;progressive ankylosis;progressive ankylosis protein homolog APPROVED protein-coding ENSG00000154122 HGNC:15492 05509 118600;123000;605145 REVIEWED 1606539 ANKHD1 ankyrin repeat and KH domain containing 1 This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010] 5 5 5 q31.3 135858059 135996193 + 139781399 139919441 + 140401814 140539856 + 6480464;8554872 10470851;11230166;12477932;12812986;14557257;14702039;14743216;16098192;16169070;16297570;16344560;16713569;16956752;18029348;21145461;21890473;21903422;21988832;22190034;22505724;22586326;23142581;23383273;24726915;24778252;24816145 54882 D6RHC4;E9PDP5;H0Y472;H0Y4P6;H0Y785;H0Y7Y3;H3BLS9;H7C2E1;H7C2F5;Q8IWZ3 ABBA01026426;ABBA01026427;ABBA01026428;ABBA01026429;ABBA01026430;ABBA01026431;ABBA01026432;ABBA01026433;AC008438;AC011399;AF217646;AF258557;AF521882;AI675547;AI870943;AK000295;AK000904;AK022041;AK022433;AK024056;AK024189;AK074173;AK098574;AL136943;AMYH02012333;AMYH02012334;AMYH02012335;AMYH02012336;AMYH02012337;AMYH02012338;AMYH02012339;AY070436;BC004457;BC009420;BC009909;BC040231;BC117677;BC117678;BC127127;BC150486;CH471062;DA509209;NM_001197030;NM_017747;NM_017978;NM_024668 AAG23760;AAG41779;AAH04457;AAH09420;AAH09909;AAH40231;AAI17678;AAI17679;AAI27128;AAI50487;AAI72415;AAL65263;AAO14943;ADZ16059;BAA91063;BAA91417;BAB13958;BAB14849;BAB84999;CAB66877;EAW62057;EAW62058;EAW62059;NP_001183959;NP_060217;NP_060448;NP_078944;Q8IWZ3 Hs.594084 1337863;1666798;1682904;1698632;1780274;2120754;2138242;2173232;5014039;5015404;5016478;5022463;5037552;5106862;7184920 D22S1584;D3S1673;D5S2116;D8S2279;GDB:434012;L17705;RH102873;RH66185;RH67791;RH67899;RH69856;RH93300;SHGC-150281;STS-AA019993 MASK;PP2500;VBARP;hMASK HIV-1 Vpr-binding ankyrin repeat protein;OTTHUMP00000159882;OTTHUMP00000159883;OTTHUMP00000174758;OTTHUMP00000174759;OTTHUMP00000174760;VPR-binding ankyrin repeat protein;ankyrin repeat and KH domain-containing protein 1;multiple ankyrin repeats single KH domain;multiple ankyrin repeats, single KH-domain homolog APPROVED protein-coding ENSG00000131503 HGNC:24714 16489 610500 REVIEWED 1353837 ANKL1 ankyrin-like 1 65976 HGNC:14588 1602794 ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009] 5 5 5 q31.3 135858059 136005914 + 139781399 139929163 + 140401814 140549578 + 6480464;8554872 10470851;12477932;14557257;14743216;16297570;16344560;18029348;20936779;20967262;21890473;22505724 404734 H7C0V5;Q8IWZ3 AB029008;ABBA01026426;ABBA01026427;ABBA01026428;ABBA01026429;ABBA01026430;ABBA01026431;ABBA01026432;ABBA01026433;AC008438;AC011399;AF521883;AK125734;AMYH02012333;AMYH02012334;AMYH02012335;AMYH02012336;AMYH02012337;AMYH02012338;AMYH02012339;BC144623;CH471062;DA859680;NM_020690 AAI72416;AAO14944;BAA83037;EAW62055;NP_065741 Hs.594084 1337863;1651430;1666798;1682904;1698632;1735456;1773378;1773380;1780274;1792176;2107035;2120754;2138242;2161727;2173232;5106862;7184920 A001T37;D5S1582E;D5S2116;EIF4EBP3_7925;G19635;PMC138568P1;RH102873;RH66185;RH67791;RH67899;RH69856;RH78625;RH93300;SHGC-150281;STS-AA019993;WI-14182 MASK-BP3;MASK-BP3arf MASK-4E-BP3 alternate reading frame;OTTHUMP00000159882;OTTHUMP00000174758;OTTHUMP00000232174 APPROVED protein-coding ENSG00000131503;ENSG00000254996 HGNC:33530 17468 REVIEWED 1316285 ANKIB1 ankyrin repeat and IBR domain containing 1 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; all-trans-retinoic acid 7 7 7 q21.2 86580099 86735226 + 91875530 92030698 + 92246216 92401384 + 1580863;6480464;8554872 10718198;12477932;14702039;15489334;16196087;17081983;19240029;20195357;20379614;21139048;21906983;21988832;23443559 54467 C9JZ63;H7C0S0;H7C2L9;H7C2V2;Q9P2G1 AB037807;ABBA01045804;ABBA01045805;AC000118;AC000120;AC004539;AC007566;AK001179;AK025475;AK057685;AL137349;AMYH02016261;AMYH02016262;AMYH02016263;AMYH02016264;BC031483;BC041643;BC063861;BC073893;BC094865;CH236949;CH471091;KF458511;KF458513;KF458515;NM_019004;XM_005250457;XM_005250458 AAH31483;AAH63861;AAH73893;AAH94865;BAA91537;BAA92624;CAB70704;EAW76852;NP_061877;Q9P2G1;XP_005250514;XP_005250515 Hs.83293 1649333;1686234;1698980;1735712;1775519;2122061;2125158;2133714;2142494;2156927;2179153 D7S2094E;D7S2167E;D7S2796;D7S2921;D7S548E;G17116;G31812;RH103059;RH80670;SHGC-56136;SHGC-56138 DKFZp434A0225;FLJ33123;KIAA1386 OTTHUMP00000208793;ankyrin repeat and IBR domain-containing protein 1 protein-coding ENSG00000001629 HGNC:22215 VALIDATED 1313623 ANKK1 ankyrin repeat and kinase domain containing 1 The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009] 11 11 11 q23.2 110411445 110424071 + 113258513 113271140 + 113387791 113400418 + 1580863;6480464;8554872 12151753;12471243;12555236;12605103;12762588;14741327;15146457;15542731;15545020;15812318;15939106;16026865;16032443;16869231;17069991;17085484;17120049;17189962;17446975;17453061;17669630;17671965;17761687;17767146;17850642;18037170;18058343;18058350;18063936;18075468;18259088;18354387;18669994;18690118;18698520;18828801;18926547;18927395;19025655;19046929;19283474;19291230;19321766;19339270;19373123;19512960;19692168;19717274;19897017;19900188;19914044;20133381;20138949;20180986;20199723;20410875;20577142;20734064;20845092;21041608;21070510;21168125;21261454;21352928;21510979;21540761;21936764;22232965;22382052;22698582;22728571;22875483;22893251;22967772;22970887;23118020;23153044;23203481;23302056;23303482;23383291;23443985;23558112;23590110;23691092;23840506;23947671;24247049 255239 H0YH32;Q8NFD2 ABBA01039789;AF487542;AF525298;AJ541797;AMYH02025593;AP002840;CH471065;EF444946;NG_012976;NM_178510;XM_006718809;XM_006718810 AAI56147;AAI72460;AAM91924;AAQ09005;ACA05931;CAD62569;EAW67216;EAW67217;NP_848605;Q8NFD2;XP_006718872;XP_006718873 Hs.448473 PKK2;sgK288 OTTHUMP00000236610;X-kinase;ankyrin repeat and protein kinase domain-containing protein 1;protein kinase PKK2;sugen kinase 288 APPROVED protein-coding ENSG00000170209 HGNC:21027 10580 608774 REVIEWED 1314392 ANKMY2 ankyrin repeat and MYND domain containing 2 ENCODES a protein that exhibits metal ion binding (inferred); FOUND IN cilium (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 5-aza-2'-deoxycytidine 7 7 7 p21 16619158 16665198 - 16639401 16685442 - 16599776 16645817 - 737633;1580863;6480464 12477932 12690205;14702039;15489334;16344560;21044950;21906983;22863883;24816145;25036637;8889548 57037 F8WB95;G3V0G5;Q8IV38 ABBA01056630;ABBA01056631;ABBA01056632;AC005014;AC073201;AK001389;AK001740;AK023704;AL050390;AMYH02015304;AMYH02015305;BC015453;BC035353;BU674794;CH236948;CH471073;DA210027;NM_020319 AAH15453;AAH35353;ACE86972;ACE87662;BAG50900;BAG51218;CAH56419;EAL24286;EAW93671;EAW93672;EAW93673;EAW93674;NP_064715;Q8IV38 Hs.157378 1700910;2123953;2141831 D7S2088E;RH104082;SHGC-17250 DKFZp564O043;ZMYND20 OTTHUMP00000116019;OTTHUMP00000201684;ankyrin repeat and MYND domain-containing protein 2 protein-coding ENSG00000106524 HGNC:25370 12454 VALIDATED 1345862 ANKMY1 ankyrin repeat and MYND domain containing 1 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenite(3-); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); pirinixic acid (ortholog) 2 2 2 q37.3 235090758 235169607 - 241418839 241500472 - 240479422 240561068 - 1580863;6480464;8554872 12477932;14702039;15489334;20379614;22139419;8125298 51281 B5MBY4;C9J176;C9J5V7;C9JGS7;C9JZ56;H7BYI0;H7BYZ8;H7C254;J3KPY5;J3KQ07;J3KQ21;Q6GPI0;Q9P2S6 AB034636;ABBA01048871;ABBA01048872;ABBA01048873;AC124862;AK000506;AK056511;AK124879;AK125881;AK225534;AK296714;AK314534;AL136618;AL833866;AMYH02006098;BC033495;BC036111;BC041887;BC073146;CH471063;CR936600;CR936759;NM_001282771;NM_001282780;NM_001282781;NM_016552;NM_017844;XM_005247020;XM_006712567;XM_006712568;XM_006712569;XM_006712570;XM_006712571;XM_006712572 AAH33495;AAH73146;AAX88942;ACE86856;ACE86879;ACE87543;BAA91213;BAA92844;BAC85977;BAG37125;BAH12418;CAB66553;CAD38724;CAI56748;EAW71187;EAW71188;EAW71189;EAW71190;EAW71191;NP_001269700;NP_001269709;NP_001269710;NP_057636;NP_060314;Q9P2S6;XP_005247077;XP_006712630;XP_006712631;XP_006712632;XP_006712633;XP_006712634;XP_006712635 Hs.656615 1781322;1781324;2185056;5015861;5037552;5109281;7185938 D10S16;D1S1425;D2S1378;D8S2279;G31178;G31179 DKFZp686D20155;DKFZp686L21237;FLJ20499;ZMYND13 OTTHUMP00000164505;OTTHUMP00000164506;OTTHUMP00000201484;OTTHUMP00000201487;OTTHUMP00000201488;OTTHUMP00000201489;ankyrin repeat and MYND domain-containing protein 1;testis specific ankyrin-like protein 1;testis-specific ankyrin-like protein 1;zinc finger MYND domain-containing protein 13 protein-coding ENSG00000144504 HGNC:20987 10646 VALIDATED 1347651 ANKRA2 ankyrin repeat, family A (RFXANK-like), 2 ENCODES a protein that exhibits low-density lipoprotein particle binding; FOUND IN cytosol; membrane; INTERACTS WITH (-)-demecolcine; 2-methylcholine; aflatoxin B1 5 5 5 q12-q13 68743316 68756798 - 72848025 72861521 - 73552200 73565696 - 1580863;6480464 10965114;11095640;12477932;14702039;15280358;15489334;15964851;17949687;20873783;21832049;22649097 57763 D6RBK8;Q9H9E1 ABBA01061920;AC010279;AF251051;AF314032;AK022876;AL558295;AMYH02011562;BC012917;CH471084;DB543368;NM_023039;XM_005248560;XR_241786;XR_241787;XR_427716 AAH12917;AAK01621;AAK34941;ABM82477;ABM85664;BAB14288;EAW95729;EAW95730;NP_075526;Q9H9E1;XP_005248617 Hs.239154 1655844;1797070;2122679;2219774 ANKRA2;ANKRA2__4305;RH46202;RH78606 ANKRA;OTTHUMP00000128195;RFXANK-like protein 2;ankyrin repeat family A protein 2 protein-coding ENSG00000164331 HGNC:13208 12044 605787 VALIDATED 1605878 ANKLE1 ankyrin repeat and LEM domain containing 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenite(3-); diazinon; trichostatin A 19 19 19 p13.11 17294193 17300193 + 17392454 17398455 + 17281645 17287646 + 6480464;8554872 12477932;14702039;15565891;16344560;17549794;20237496;20852631;20852633;21890473;21906983;22399800;22976474;24325915 126549 B4DSY8;B4E124;J3KPY6;M0QX15;M0R002;Q8NAG6 ABBA01051191;AC010463;AK092706;AK096688;AK299977;AK303628;AMYH02035701;BC119015;BC125274;CH471106;DA900798;DC410789;EU184013;NM_001278443;NM_001278444;NM_001278445;NM_152363;NR_103530 AAI25275;ABW73565;BAC03953;BAC04840;BAG61800;BAG64636;EAW84586;EAW84587;EAW84588;NP_001265372;NP_001265373;NP_001265374;NP_689576;Q8NAG6 Hs.721610 1339866;5023733;5024761;5127905 AU048745;D19S410;RH36905;SHGC-152141 ANKRD41;FLJ39369;LEM3;LEMD6 LEM domain containing 6;LEM-domain containing 3;LEM-domain containing protein 3;OTTHUMP00000198604;OTTHUMP00000198605;OTTHUMP00000201269;ankyrin repeat and LEM domain-containing protein 1;ankyrin repeat domain 41;ankyrin repeat domain-containing protein 41 protein-coding ENSG00000160117 HGNC:26812 08801 VALIDATED 1604388 ANKLE2 ankyrin repeat and LEM domain containing 2 This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014] 12 12 12 q24.33 133002795 133037583 - 133302254 133338451 - 132725668 132761865 - 6480464;8554872 12477932;14702039;15231748;15489334;16344560;16964243;17081983;18029348;18624398;19156129;19946888;21906983;22542470;22770216;23443559;24816145;9734811 23141 F5H1D4;F5H6J0;Q86XL3 AB014592;ABBA01012370;ABBA01012371;ABBA01012372;ABBA01042548;ABBA01042549;ABBA01042550;ABBA01042551;AC135586;AC136467;AK024061;AK025933;AK093451;AK293028;AMYH02027591;AMYH02027592;BC001530;BC025347;BC043157;BC062373;BC082962;DA757330;DB451935;DB453975;NG_034022;NM_015114;R59085;XM_005266159;XM_005266160;XM_005266161;XM_006719735 AAH01530;AAH25347;AAH43157;AAH62373;AAH82962;BAA31667;BAF85717;BAG51259;BAG52720;NP_055929;Q86XL3;XP_005266216;XP_005266217;XP_005266218;XP_006719798 Hs.654628 1340726;1722945;2119242;2173388;2173390;2178195 A005X42;D12S1638;G20583;G60570;RH44489;RH78044 FLJ22280;FLJ36132;KIAA0692;LEMD7;Lem4 LEM domain containing 7;LEM domain-containing protein 4;OTTHUMP00000237681;OTTHUMP00000237682;ankyrin repeat and LEM domain-containing protein 2 protein-coding ENSG00000176915 HGNC:29101 REVIEWED 1348352 ANKRD1 ankyrin repeat domain 1 (cardiac muscle) The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008] 10 10 10 q23.31 86418314 86427472 - 92671857 92681032 - 90912100 90921275 - 1578370;1580863;1578366;5133280;5133277;5133278;5133279;5133276;6480464 10904011;14516314;15632022;17610582;19299913;19525294;19608031 11139470;11309420;12054667;12477932;12524226;12679596;14583192;15164054;15489334;15698842;15805281;16344560;16450059;17239933;18157088;18273862;18656235;18976975;18980987;19359327;19589340;19608030;20164196;20301486;20599664;20602615;20628624;20860623;21139048;22085644;22185618;22892129;23572067;25015289;7730328 27063 Q05DQ9;Q15327 ABBA01021930;ABBA01021931;AF131884;AK290960;AL590622;AMYH02023518;AU139209;AY903446;BC005191;BC018667;CH471066;NG_023227;NM_014391;X83703 AAH05191;AAH18667;AAX23581;ABM83778;ABM87098;BAF83649;CAA58676;EAW50116;NP_055206;Q15327 Hs.448589 1690438;2109039;2123017;2159094;5491938;5492365 ANKRD1-1;ANKRD1_9516;Ankrd1;RH98636;SHGC-35401;STS-X83703 ALRP;C-193;CARP;CVARP;MCARP;bA320F15.2 OTTHUMP00000020084;ankyrin repeat domain-containing protein 1;cardiac ankyrin repeat protein;cytokine-inducible gene C-193 protein;cytokine-inducible nuclear protein;liver ankyrin repeat domain 1 APPROVED protein-coding ENSG00000148677 HGNC:15819 10647 609599 REVIEWED 5130813 ANKRD10-IT1 ANKRD10 intronic transcript 1 (non-protein coding) 13 13 92397340 92399786 - 111551120 111554449 - 12477932;14702039 100505494 AK124233;BC034813;XR_109155;XR_111397;XR_172017 Hs.655994 1667786;1667788;5015619 A005X01;D11S3114;G20562 FLJ42239 ncrna HGNC:39891 1606740 ANKRD13B ankyrin repeat domain 13B FOUND IN endosome (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; atrazine; valproic acid 17 17 17 q11.2 24781393 24802648 + 27920527 27941779 + 29589769 29614761 + 6480464 12477932;14702039;15489334;16169070;16344560;20881960;21139048;21890473;21963094;22298428 124930 B3KS27;K7EKP0;K7ENT0;Q86YJ7 ABBA01015012;ABBA01015013;AC104564;AK000425;AK092673;AK097716;AK098421;AMYH02033253;AMYH02033254;BC032554;BC062597;BG029526;CH471159;DA445860;NM_152345;XM_005257920;XM_006721693 AAH32554;AAH62597;BAC05148;BAC05304;BAG52589;EAW51199;EAW51200;EAW51201;EAW51202;EAW51203;NP_689558;Q86YJ7;XP_005257977;XP_006721756 Hs.662164 1736694;2174115 D17S1512E;RH46400 FLJ20418;FLJ25555 OTTHUMP00000163607;OTTHUMP00000163608;ankyrin repeat domain-containing protein 13B protein-coding ENSG00000198720 HGNC:26363 08694 615124 VALIDATED 1321439 ANKRD10 ankyrin repeat domain 10 INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine 13 13 13 q34 92377096 92413637 - 111530887 111567454 - 110878540 110915107 - 6480464 12477932;12938929;14702039;16344560;19322201;8889548 55608 Q8IUW1;Q9NXR5;S4R3R2 ABBA01026990;AK000100;AK000111;AK026017;AK094222;AK095763;AK096083;AK123341;AK125100;AL157875;AL442128;AMYH02028714;BC001727;BC039715;BX354283;BX641022;BX648721;CB242465;CH471085;DA961131;NM_001286721;NM_017664;NR_104586;NR_104587 AAH01727;AAH39715;BAA90945;BAA90951;BAB15323;BAG53125;BAG53208;BAG53891;BAG54142;CAH56123;EAX09134;EAX09135;EAX09136;NP_001273650;NP_060134;Q9NXR5 Hs.525163 1651795;1667786;1738435;1753941;1852825;1857264;2110957;2119676;2131607;2178229;2183709;2187036 D13S229E;D13S851E;G20562;RH45174;RH71139;SGC30179;SHGC-34204;SHGC-89345;STS-AA007174;STS-N30312;UniSTS:153217;WI-22180 DKFZp686B07190;FLJ20093 OTTHUMP00000018708;ankyrin repeat domain-containing protein 10 protein-coding ENSG00000088448 HGNC:20265 12455 VALIDATED 1318431 ANKRD13A ankyrin repeat domain 13A FOUND IN plasma membrane; INTERACTS WITH atrazine; methyl methanesulfonate; paracetamol 12 12 12 q24.11 110061469 110101471 + 110436974 110477237 + 109999169 110039432 + 6480464 10508479;12477932;14702039;15231748;15489334;16196087;19322201;20639865;21139048;21890473;21903422;21906983;21963094;21987572;22053931;22190034;22298428;22505724;23000965;23319000;23620728;23940030;23956138;24816145 88455 B3KMT9;B3KT78;F8W150;H0YIN8;Q3ZTS7;Q8IZ07;Q9Y5A3;S4R3D2;S4R3U2 ABBA01005084;ABBA01005085;AC007546;AC084876;AF064604;AF155103;AK022658;AK025261;AK095130;AK130522;AK293232;AK302535;AK308923;AMYH02027176;AY364251;BC032833;BC057817;CH471054;NM_033121;XM_005253980;XM_005253981;XM_005253982;XM_005253984 AAC17109;AAD42869;AAH32833;AAQ76810;BAG51101;BAG52990;BAG56771;BAG63807;EAW97891;EAW97892;EAW97893;NP_149112;Q8IZ07;XP_005254037;XP_005254038;XP_005254039;XP_005254041 Hs.528703 1645417;1645775;2146324;2169768;2181302;5014019;5024761 D5S2354;RH36905;RH44722;SGC30598;SGC33766;SHGC-53833;WI-20847 ANKRD13;NY-REN-25 NY-REN-25 antigen;OTTHUMP00000240752;ankyrin repeat domain 13;ankyrin repeat domain-containing protein 13A protein-coding ENSG00000076513 HGNC:21268 12458 615123 VALIDATED 1315433 ANKRD11 ankyrin repeat domain 11 This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012] 16 16 16 q24.3 74399601 74619674 - 89334029 89556969 - 89267619 89490561 - 6480464;8699517;7240710;8554872 11483580;12477932;14702039;15184363;15489334;16344560;17081983;17521611;18840648;19920853;21139048;21654729;21782149;22538187;23184435;23494856;23502783;23752268;24722188 29123 H0Y2U4;H0Y3E3;H3BNU4;H3BVB8;Q6UB99 AB209186;ABBA01014150;ABBA01014151;ABBA01014152;ABBA01014153;ABBA01014154;ABBA01014155;ABBA01014156;AC092120;AC092123;AC137932;AF121775;AF130076;AK025964;AK057803;AK093762;AK125549;AK290994;AMYH02032661;AMYH02032662;AMYH02032663;AMYH02032664;AMYH02032665;AMYH02032666;AY131227;AY373756;AY533563;AY726574;BC007975;BC017437;BC025283;BC031340;BC041059;BC041585;BC052290;BC058001;BC069013;BQ957747;CH471184;DA172996;KF456220;KJ534770;NG_032003;NM_001256182;NM_001256183;NM_013275;NR_045839;XM_006721181;XM_006721182;XM_006721183;XM_006721184 AAF24125;AAH41585;AAH58001;AAH69013;AAN07913;AAR25661;AAS45544;AHW56410;BAD92423;BAF83683;EAW66731;EAW66732;EAW66733;EAW66734;NP_001243111;NP_001243112;NP_037407;Q6UB99;XP_006721244;XP_006721245;XP_006721246;XP_006721247 Hs.335003;Hs.740440 1336575;1339964;1660633;1668203;1673048;1679325;1699382;1720567;1754325;1761807;1762643;1764745;1766629;2109037;2157314;2172433;2185581 ANKRD11_9583;D16S3026;D16S3121;G59238;HSC05E102;RH103278;RH65545;RH69658;RH80169;SHGC-132354;SHGC-145765;SHGC-146447;SHGC-148326;SHGC-149926;SHGC-60547;SHGC-60644;SHGC-64125 ANCO-1;ANCO1;KBGS;LZ16;T13 ankyrin repeat domain-containing protein 11;ankyrin repeat-containing cofactor 1;ankyrin repeat-containing protein 11;nasopharyngeal carcinoma susceptibility protein APPROVED protein-coding ENSG00000167522 HGNC:21316 12456 148050;611192 REVIEWED 1320836 ANKRD12 ankyrin repeat domain 12 This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 18 18 18 p11.22 9066843 9169731 + 9136751 9285983 + 9136753 9285985 + 6480464 10048485;12477932;14702039;15184363;15342556;16582619;18029348;18377363;20379614;21145461;21963094;22094256;23752268 23253 B5MEA4;F5GYX2;J3KS53;J3KSU9;J3QRX3;Q6UB98 AB020681;AB073645;AB075493;ABBA01049947;ABBA01049948;ABBA01049949;AF147338;AF317425;AK000060;AK021430;AK024808;AK092124;AL834204;AMYH02034286;AMYH02034287;AP001033;AP005263;AY373757;AY533564;BC057225;BC070234;BM992146;BP230422;BP255733;CH471113;NM_001083625;NM_001204056;NM_015208;X80821;XM_005258092;XM_005258093;XM_005258094;XM_005258095;XM_005258096;XM_006722317 AAG38609;AAH57225;AAH70234;AAI56481;AAI72538;AAR25662;AAS45545;BAA74897;BAA90917;BAB15014;BAE45749;CAA56787;CAH56382;EAX01609;EAX01610;NP_001077094;NP_001190985;NP_056023;Q6UB98;XP_005258149;XP_005258150;XP_005258151;XP_005258152;XP_005258153;XP_006722380 Hs.464585 1675335;1683325;1685169;1691202;1694846;1696962;1698384;1700484;1707746;1708384;1711984;1739229;1756995;1779088;2124969;2179822;2186547;5021872;5022200;5022578 D18S1016;D18S1236;D1S1423;G44291;L18426;RH101953;RH102733;RH103863;RH118445;RH16223;RH75135;RH79631;RH94073;RH99046;SHGC-144352;SHGC-56504;SHGC-58356;SHGC-82089;SHGC-82874;sY3084 ANCO-2;ANCO1;FLJ20053;GAC-1;KIAA0874;Nbla00144 OTTHUMP00000162350;ankyrin repeat domain-containing protein 12;ankyrin repeat-containing cofactor 2;putative protein product of Nbla00144 APPROVED protein-coding ENSG00000101745 HGNC:29135 12457 610616 REVIEWED 1604586 ANKRD13C ankyrin repeat domain 13C ENCODES a protein that exhibits receptor binding; INVOLVED IN protein retention in ER lumen; regulation of anoikis; regulation of receptor biosynthetic process; FOUND IN endoplasmic reticulum; perinuclear region of cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; benzo[a]pyrene diol epoxide I 1 1 1 p32.3-p31.3 69014622 69110347 - 70724685 70820471 - 70259002 70354788 - 6480464 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16381901;16710414;20959461;21906983;23762421;8889548 81573 Q8N6S4 ABBA01074483;ABBA01074484;ABBA01074485;ABBA01074486;ABBA01074487;AK074187;AL136717;AL158839;AL353771;AL354721;AMYH02001238;AMYH02001239;AMYH02001240;AMYH02001241;BC016937;BC028840;BU622247;CD000035;CH471059;CK299538;NM_030816;XM_005271234;XM_005271235;XM_006710929;XM_006710930;XR_426628 AAH16937;AAH28840;BAG51959;CAB66651;CAL37790;CAL38346;EAX06456;EAX06457;NP_110443;Q8N6S4;XP_005271291;XP_005271292;XP_006710992;XP_006710993 Hs.744989 1654662;1676956;1682457;1692284;1698546;1715355;1770609;2151996;2181652;2185674 AL009311;AL033802;RH102825;RH120509;RH48351;RH92420;RH92699;SHGC-52664;WI-14729;WI-21498 DKFZp566D1346;FLJ14998;RP4-677H15.5;dJ677H15.3 OTTHUMP00000010939;OTTHUMP00000010940;ankyrin repeat domain-containing protein 13C protein-coding ENSG00000118454 HGNC:25374 13176 615125 VALIDATED 1349121 ANKRD14 ankyrin repeat domain 14 445575 HGNC:23431 1605234 ANKRD13D ankyrin repeat domain 13 family, member D ASSOCIATED WITH Melanoma (inferred); FOUND IN endosome (inferred); plasma membrane (inferred); INTERACTS WITH 2-methylcholine; pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q13.2 64368966 64402594 + 67056762 67069955 + 67289291 67302484 + 6480464;8554872 12477932;14702039;15489334;16344560;16713569;17081983;19913121;19953087;20628086;21139048;21832049;21890473;21963094;21987572;22298428;24250222 338692 Q6ZTN6 ABBA01024041;AK027313;AK057566;AK057681;AK091614;AK096277;AK124721;AK126438;AMYH02024991;AP001885;BC044239;BC110419;BC121024;BC121025;CH471076;DA870287;DB460018;NM_207354;NR_030767;XM_006718531;XR_428913 AAH44239;AAI10420;AAI21025;AAI21026;BAC85932;BAC86550;BAG51301;BAG51952;EAW74583;EAW74584;EAW74585;EAW74586;NP_997237;Q6ZTN6;XP_006718594 Hs.438673 2113958;2155198;2156868;2177282;2191167;5014051;5015861;5016478;5020946;5022576;5022578;5022651;5024039;5024272;5037552;5492139;7185938 ADRBK1;D10S16;D11S2921;D16S325;D1S1361;D1S1423;D2S1254;D8S2278;D8S2279;GDB:434012;L17971;MARC_15697-15698:1013523581:1;RH45377;STS-W92216;WI-15244;adrbk1sts1 MGC50828 OTTHUMP00000222934;OTTHUMP00000222935;OTTHUMP00000236816;ankyrin repeat domain-containing protein 13D protein-coding ENSG00000172932 HGNC:27880 17349 615126 VALIDATED 5684153 ANKRD18CP ankyrin repeat domain 18C, pseudogene 9 9 9 q22.33 70433103 70514310 - 99942170 99983523 - 97188583 97221235 - 12477932 100287922 ABBA01042937;AK098764;AK309476;AL590705;AMYH02021304;CD644713;CD709196;XR_426432;XR_428576;XR_432474 Hs.638367;Hs.648180 1679874;1682057;1685496;1709398;5037552 D8S2279;RH45881;RH65315;RH69285;SHGC-81723 FLJ25898;FLJ99517 pseudo HGNC:43601 MODEL 6480412 ANKRD18EP ankyrin repeat domain 18E, pseudogene 6 6 6 p21.2 40630588 40634828 + 39078100 39080695 + 39110324 39112919 + 100131031 ABBA01038308;AL035690;AMYH02013586;CH471081;NG_028818 EAX03978 uncharacterized protein LOC100131031 pseudo HGNC:43609 INFERRED 1607057 ANKRD17 ankyrin repeat domain 17 This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 q13.3 71296572 71480590 - 73940502 74124858 - 73074785 73259141 - 6480464;8554872 11165478;11740861;12477932;12747765;14557257;14702039;15302935;17609381;18029348;19460752;19615732;19815555;19946888;20200953;20379614;20682791;20936779;21139048;21890473;21988832;22190034;22328336;22558309;22586326;22623428;23443559;23535732;23711367;24816145;8889548;9734811 26057 H0YLQ3;H0YM23;O75179 AB014597;ABBA01022984;ABBA01022985;ABBA01022986;ABBA01022987;AC053527;AC095053;AC105757;AF308285;AI680274;AK025859;AK055209;AK096518;AK299046;AK300302;AK307581;AL831903;AL833287;AMYH02009457;AMYH02009458;AMYH02009459;AMYH02009460;AMYH02009461;BC004173;BC004891;BC007747;BC009043;BC019963;BC029935;BC043394;BU608983;BU687888;BX648035;CA310544;CD690889;CH471057;DC335632;NM_001286771;NM_032217;NM_198889;XM_005265667;XM_005265671;XM_005265672;XM_005265673 AAG48253;AAH04173;AAH07747;AAH19963;AAH43394;AAI46383;BAA31672;BAB15260;BAG53312;BAG61120;BAG62055;CAD38571;EAX05654;EAX05655;EAX05656;EAX05657;EAX05658;NP_001273700;NP_115593;NP_942592;O75179;XP_005265724;XP_005265728;XP_005265729;XP_005265730 Hs.601206;Hs.743705 1660062;1672565;1774202;1788736;1847496;1853526;2117397;2125412;2130392;2134043;2143450;2155019;2174201;2187098;5096751 D4S2838;D4S844;D4S872;G34305;G34416;G34499;RH127459;RH35831;SGC33720;SGC38257;SHGC-24711;SHGC-67820;SHGC4-1565;WI-11060;WI-16604 FLJ22206;GTAR;KIAA0697;NY-BR-16 OTTHUMP00000219059;OTTHUMP00000219060;OTTHUMP00000219061;ankyrin repeat domain-containing protein 17;gene trap ankyrin repeat protein;serologically defined breast cancer antigen NY-BR-16 APPROVED protein-coding ENSG00000132466 HGNC:23575 10648 615929 REVIEWED 1351862 ANKRD18B ankyrin repeat domain 18B INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 9 9 9 p13.3 33454000 33502434 + 33524347 33602658 + 33524349 33575725 + 6480464 12477932;21906983 441459 A2A2Z9;A2A300;R4GNB3;S4R3H1 ABBA01065047;ABBA01065048;AL139008;AMYH02019423;BC009440;BF103989;DB512460;DW421358;DW441346;NM_001244752;XM_006716769;XM_006716770;XM_006716771;XM_006716772 A2A2Z9;NP_001231681;XP_006716832;XP_006716833;XP_006716834;XP_006716835 Hs.493710 bA255A11.3;bA255A11.5 OTTHUMP00000195020;ankyrin repeat domain-containing protein 18B protein-coding ENSG00000230453 HGNC:23644 18466 INFERRED 1352126 ANKRD18A ankyrin repeat domain 18A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; coumestrol; resveratrol 9 9 9 p13.1 38507268 38556673 - 38543190 38620626 - 38568767 38620539 - 6480464;8554872 12477932;14702039;16344560;20618440;21906983;23131552 253650 H3BPE5;H3BTJ1;Q6QA70;Q8IVF6;Q8NA88;R4GN29 AB095935;ABBA01050374;ABBA01050375;AK093059;AL390726;AL591543;AL834388;AMYH02019511;AY550933;BC056266;BC131497;BC152434;BQ787286;BX280525;DB066861;NM_147195;XM_006716749 AAH56266;AAI52435;AAS57859;BAC04038;BAC23111;NP_671728;Q8IVF6;XP_006716812 Hs.644630 2162134 RH12064 FLJ35740;FLJ40632;KIAA2015;MGC176674 OTTHUMP00000021402;ankyrin repeat domain-containing protein 18A protein-coding ENSG00000180071 HGNC:23643 13419 VALIDATED 1322851 ANKRD16 ankyrin repeat domain 16 INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; genistein 10 10 10 p15.1 5834082 5862252 - 5903593 5931860 - 5861726 5889897 - 6480464 12477932;14702039;15164054;15489334;17207965;20453838;23251661 54522 Q6P6B7 AA431197;ABBA01034770;ABBA01034771;AI738771;AK093489;AK094497;AK129672;AL137186;AL137614;AL596094;AMYH02022050;AMYH02022051;AW470888;AW630443;BC017324;BC062346;BC067892;CH471072;NM_001009941;NM_001009943;NM_019046 AAH62346;ADQ32142;CAB70843;EAW86429;NP_001009941;NP_001009943;NP_061919;Q6P6B7 Hs.289828 1675911;1722107;1780080;1850956;2218992;5015619;5022578;5022651;5037552 ANKRD16__4307;D10S1596;D11S2921;D11S3114;D1S1423;D8S2279;G60095;RH92268;SHGC-154401 OTTHUMP00000019019;OTTHUMP00000019020;OTTHUMP00000216165;ankyrin repeat domain-containing protein 16 protein-coding ENSG00000134461 HGNC:23471 12459 VALIDATED 1605802 ANKRD18DP ankyrin repeat domain 18D, pseudogene 3 3 3 q29 196399188 196422329 - 197784402 197807542 - 198057531 198080671 - 12477932;21906983 348840 ABBA01007556;AC073135;AK125940;AMYH02008528;AMYH02008529;BC042518;BC053879;CH471252;NR_003291 EAW92257;EAW92258 Hs.512227 1722837 G60360 APPROVED pseudo ENSG00000226435 HGNC:28016 14181 PROVISIONAL 1343235 ANKRD20A1 ankyrin repeat domain 20 family, member A1 FOUND IN plasma membrane; INTERACTS WITH 17beta-estradiol; progesterone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q13 2600 2914 + 67926761 67969840 + 67859315 67902394 + 6480464 11076863;11230166;11256614;15164053;15489336;16381901 84210 Q5TYW2 ABBA01033776;ABBA01033777;ABBA01033778;ABBA01033779;AL136793;AMYH02020826;AMYH02020827;AMYH02020828;AMYH02020829;BX649567;NM_032250;XM_005272532 AAI46682;CAB66727;CAL38009;NP_115626;Q5TYW2;XP_005272589 Hs.632671 ANKRD20A;DKFZp434A171 OTTHUMP00000032570;ankyrin repeat domain 20A;ankyrin repeat domain-containing protein 20A1 protein-coding ENSG00000260691 HGNC:23665 10649 PROVISIONAL 6480383 ANKRD20A14P ankyrin repeat domain 20 family, member A14, pseudogene 1 1 142823386 142827232 + 42364 46210 + 100533719 BX572084;NG_028834 pseudo HGNC:43605 INFERRED 1604746 ANKRD19P ankyrin repeat domain 19, pseudogene FOUND IN extracellular vesicular exosome; INTERACTS WITH arsenite(3-); benzene-1,2,4-triol; ammonium chloride (ortholog) 9 9 9 q22.31 66013959 66042818 + 95571893 95600739 + 92809611 92838457 + 6480464 12477932;14702039;15164053;15489334 138649 Q9H560 ABBA01018596;AK093497;AK292218;AL136981;AMYH02021226;AMYH02021227;BC028712;BC038951;BC117367;BC171729;CH471089;DB449690;NR_026868 AAH38951;AAI17368;AAI71729;BAF84907;EAW62830;EAW62831;EAW62832;EAW62833 Hs.643597 1771686;2181135 RH48561;RH78225 ANKRD19;FLJ36178;bA526D8.2 APPROVED pseudo ENSG00000187984 HGNC:22567 16490 VALIDATED 6480411 ANKRD20A13P ankyrin repeat domain 20 family, member A13, pseudogene 1 1 q21.1 115379033 115385224 + 143209382 143213259 - 100132733 AMYH02001842;BX571672;NG_029281 1758537 SHGC-148652 pseudo HGNC:43604 INFERRED 5129379 ANKRD20A10P ankyrin repeat domain 20 family, member A10, pseudogene 13 13 13 6389169 6389736 - 25325904 25326471 - 24751766 24752333 - 100421422 ABBA01007894;AL391560;AMYH02027709;NG_024841 1730215;7184676 D13S179E ANKRD20A4P1 APPROVED pseudo HGNC:39707 INFERRED 6480384 ANKRD20A15P ankyrin repeat domain 20 family, member A15, pseudogene 1 143375107 143378961 + 100533720 BX004987;NG_028835 pseudo HGNC:43606 INFERRED 1344304 ANKRD20A11P ankyrin repeat domain 20 family, member A11, pseudogene INTERACTS WITH atrazine; fonofos; parathion 21 21 21 q11.2 323 1103 - 15316090 15352765 - 13943769 13980444 - 6480464 12036297;12477932 391267 ABBA01057071;AF426257;AP001466;AP001634;BC036580;BC043199;BC063278;NR_027270 AAM53513 Hs.364456 C21orf81;MGC44241 APPROVED pseudo ENSG00000215559 HGNC:42024 VALIDATED 6480986 ANKRD20A12P ankyrin repeat domain 20 family, member A12, pseudogene 1 4 142697421 142713605 - 161987 178171 - 12477932;14702039;16710414;21906983 100874392 Q8NF67 AK090412;AL583842;AMYH02001840;BC022380;KF455032;NR_046228 BAC03393;Q8NF67 Hs.648245 FLJ00310 pseudo HGNC:43603 VALIDATED 6480404 ANKRD20A16P ankyrin repeat domain 20 family, member A16, pseudogene 21 21 9765961 9769809 + 8877128 8880976 + 100421427 AMYH02037502;CR381670;NG_025049 pseudo HGNC:43607 INFERRED 1312939 ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle) This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] 10 10 10 q23 93069552 93080944 + 99332256 99343641 + 97572499 97583884 + 1580863;6480464 10873377;11444853;11453652;11972353;12004005;1204005;12477932;12679596;14583192;14702039;15136035;15164054;15489334;15677738;16021567;16344560;16385451;17206105;18029348;20211142;21737686;22016770;22185618;23811403;24434510 26287 Q5T457;Q9GZV1 AB058599;ABBA01021800;AJ249975;AJ304804;AJ304805;AJ346356;AJ583444;AK056990;AK314763;AL355315;AL359388;AMYH02023611;BC020817;BC107759;CH471066;DA893829;NG_034079;NM_001129981;NM_001291218;NM_001291219;NM_020349 AAH20817;AAI07760;BAB60958;BAG37301;CAB99416;CAC19411;CAC19412;CAE47432;EAW49916;EAW49917;NP_001123453;NP_001278147;NP_001278148;NP_065082;Q9GZV1 Hs.73708 1684526;2137905;2153196;2220490 RH41894;RH48677;RH99032;UniSTS:483548 ARPP;MGC104314;hArpp OTTHUMP00000020219;OTTHUMP00000020220;ankyrin repeat domain-containing protein 2;ankyrin-repeat protein;skeletal muscle ankyrin repeat protein APPROVED protein-coding ENSG00000165887 HGNC:495 12460 610734 REVIEWED 1625837 ANKRD20A4 ankyrin repeat domain 20 family, member A4 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 2 9 9 q21.11 89830250 89873428 - 69381981 69425109 + 64369563 64412691 + 6480464 15164053;16751776 728747 Q4UJ75 AC244112;AK307323;CR769776;DQ576528;NM_001098805 NP_001092275;Q4UJ75 Hs.645502 OTTHUMP00000069774;ankyrin repeat domain-containing protein 20A4 protein-coding ENSG00000172014 HGNC:31982 PROVISIONAL 1625836 ANKRD20A20P ankyrin repeat domain 20 family, member A20, pseudogene INTERACTS WITH (+)-catechin 2 9 9 q21.11 89806317 89829686 - 69423200 69448577 + 64410782 64436159 + 728788 CR769776;NG_016332 CCDC29 APPROVED pseudo HGNC:32319 INFERRED 6480405 ANKRD20A17P ankyrin repeat domain 20 family, member A17, pseudogene 4 4 49504165 49508042 - 49502148 49506025 - 100421363 AC119751;AMYH02009186;NG_025102 pseudo HGNC:43608 INFERRED 1343328 ANKRD20A18P ankyrin repeat domain 20 family, member A18, pseudogene 21 21 21 q11.2 593740 598609 + 15436540 15441409 + 14064219 14069088 + 391269 ABBA01057078;AC246819;AP001347;NG_009314 C21orf126 APPROVED pseudo HGNC:23756 INFERRED 2304149 ANKRD20A5P ankyrin repeat domain 20 family, member A5, pseudogene 18 18 18 p11.21 14058762 14106133 + 14179096 14227049 + 14179097 14227050 + 12477932;15342556;15489334 440482 A0PJZ0 ABBA01074044;AMYH02034357;AP001004;BC022023;BC127726;BP201899;CH471113;DB446908;NR_040113 A0PJZ0;AAH22023;AAI27727;EAX01494;EAX01495;EAX01496 Hs.632352 2155495 RH36536 ANKRD20A5;MGC26718 Putative ankyrin repeat domain-containing protein 20A-like protein MGC26718;ankyrin repeat domain 20 family, member A5;ankyrin repeat domain-containing protein 20A-like protein MGC26718;putative ankyrin repeat domain-containing protein 20A5 APPROVED pseudo HGNC:33833 VALIDATED 1604144 ANKRD20A19P ankyrin repeat domain 20 family, member A19, pseudogene 13 13 13 q12.12 5578100 5584790 - 24481423 24523454 - 23907284 23949315 - 19851299 400110 ABBA01007883;AK127292;AK128225;AL445985;AMYH02027697;AMYH02027698;CH471075;NR_073430 BAC86920;BAC87336;EAX08330 Hs.744780 5022649 D11S2875 FLJ46358 hypothetical protein LOC400110;putative uncharacterized protein FLJ46358 APPROVED pseudo HGNC:42737 13533 VALIDATED 1604892 ANKRD20A3 ankyrin repeat domain 20 family, member A3 INTERACTS WITH cadmium atom 2 9 9 p12 89829797 89873428 - 43089972 43133732 - 66109394 66153154 - 6480464 12477932;15164053 441425 B2RTT7;K7EJ15;Q5VUR7 AL513478;AMYH02020128;AMYH02020129;AMYH02020130;AMYH02020131;AMYH02020132;AMYH02020133;AMYH02020134;AMYH02020135;AMYH02020136;AMYH02020137;AMYH02020138;BC140809;BC171793;NM_001012419;XM_005272525 AAI40810;AAI67832;AAI71793;NP_001012419;Q5VUR7;XP_005272582 Hs.632663 MGC176486;MGC198508 OTTHUMP00000015360;ankyrin repeat domain 20A-related;ankyrin repeat domain-containing protein 20A3 protein-coding ENSG00000276203 HGNC:31981 17405 PROVISIONAL 1604891 ANKRD20A2 ankyrin repeat domain 20 family, member A2 INTERACTS WITH 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene; copper(2+) sulfate 2 9 9 p12 89830250 89873428 - 42368303 42411410 + 40223285 40266392 + 6480464 12477932;15164053 441430 Q5SQ80 AL773545;AMYH02020043;AMYH02020044;AMYH02020045;AMYH02020046;AMYH02020047;AMYH02020048;AMYH02020049;AMYH02020050;BX664727;NM_001012421;XM_005272519 NP_001012421;Q5SQ80;XP_005272576 Hs.632663 MGC176486 OTTHUMP00000064580;ankyrin repeat domain-containing protein 20A2 protein-coding ENSG00000183148 HGNC:31979 18652 VALIDATED 3539631 ANKRD20A6P ankyrin repeat domain 20 family, member A6, pseudogene Y Y q11.1 13329294 13330115 + 11173618 11174439 + 728157 ABBA01008618;AC134878;NG_022981 pseudo HGNC:37714 INFERRED 4144668 ANKRD20A7P ankyrin repeat domain 20 family, member A7, pseudogene 9 9 p11.2 44075380 44118556 - 42852563 42895739 + 653436 AMYH02020194;CR848007;NG_012726 pseudo HGNC:31980 INFERRED 5133096 ANKRD20A9P ankyrin repeat domain 20 family, member A9, pseudogene INTERACTS WITH aflatoxin B1 13 13 q11 19408543 19446109 - 18834403 18871969 - 6480464 10737800;8889548 284232 ABBA01068539;AC203639;AC245149;AL355516;AL391382;BJ991373;DW423875;NR_027995 Hs.679496;Hs.694496;Hs.742626 1701216;1748423;2155495 G64223;RH104236;RH36536 pseudo HGNC:42023 PROVISIONAL 1351764 ANKRD20A8P ankyrin repeat domain 20 family, member A8, pseudogene INTERACTS WITH cadmium atom; 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 2 2 2 q11.1 89777074 89873221 - 95426673 95522820 - 94760928 94857075 - 6480464 729171 Q5CZ79 ABBA01003581;ABBA01003582;ABBA01003583;ABBA01003584;ABBA01003585;ABBA01003586;ABBA01003587;ABBA01003588;AC073464;AC097374;AMYH02004297;CR936649;NR_003366 CAI56787;Q5CZ79 Hs.456852 ANKRD20B;DKFZp686H1631 APPROVED pseudo HGNC:23666 VALIDATED 1322819 ANKRD24 ankyrin repeat domain 24 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; 17alpha-ethynylestradiol (ortholog) 19 19 19 p13.3 4122806 4164282 + 4182665 4224811 + 4182668 4224814 + 6480464 11853319;12477932;15146197;16169070;20467438;20936779 170961 M0QZ18;M0R0N9;Q8TF21 AB075861;ABBA01056081;ABBA01056082;ABBA01056083;AC005578;AC006930;AMYH02035277;AMYH02035278;AMYH02035279;AMYH02035280;BC028236;BI914435;BX117359;BX359277;CN286920;NM_133475;XM_005259510;XM_006722674;XM_006722675;XM_006722676;XM_006722677;XM_006722678 AAC33490;AAD15479;BAB85567;NP_597732;Q8TF21;XP_005259567;XP_006722737;XP_006722738;XP_006722739;XP_006722740;XP_006722741 Hs.197872 KIAA1981 ankyrin repeat domain-containing protein 24 protein-coding ENSG00000089847 HGNC:29424 PROVISIONAL 1602441 ANKRD26P1 ankyrin repeat domain 26 pseudogene 1 16 16 16 q11.2 31011416 31111174 - 46503249 46603009 - 46469337 46569097 - 11181995;12477932 124149 Q6NSI1;Q6ZU59 ABBA01013774;ABBA01013775;ABBA01013776;AC092368;AC106819;AK125968;AMYH02031962;AMYH02031963;AMYH02031964;AMYH02031965;BC070117;BX648636;CD000265;CH471092;CR749347;FP885539;NR_026556 BAC86367;CAH18200;EAW82764;Q6NSI1 Hs.97414 1681636;1753325 RH92015;SHGC-68819 DKFZp781D1722;FLJ43980;MGC87661 pseudo HGNC:32955 13482 VALIDATED 5129398 ANKRD26P2 ankyrin repeat domain 26 pseudogene 2 13 13 13 q13.3 20537488 20564271 - 39483365 39510341 - 38909228 38936204 - 646929 ABBA01021319;AL354819;AL445590;AL607149;AMYH02027893;NG_006568 1339884;1759775;1764029;1764033;1771620;1782954 AFMa130xc9;D13S1288;SHGC-147683;SHGC-147695;SHGC-150887;SHGC-156230 KIAA1074 pseudo HGNC:39687 INFERRED 1317302 ANKRD22 ankyrin repeat domain 22 INTERACTS WITH 17beta-estradiol; calcitriol; gadodiamide hydrate 10 10 10 q23.31 84326476 84358565 - 90579656 90611732 - 88819899 88851975 - 737633;6480464 12477932 15164054;15489334;16341674;16344560;16385451;17207965;20211142;20379614;8889549 118932 Q5VYY1 ABBA01021953;AK313969;AL157394;AL353113;AMYH02023504;AMYH02023505;BC021671;BM785517;CH471066;CS300545;DA672161;N95187;NM_144590 AAH21671;ADQ33206;BAG36684;CAK32209;EAW50159;NP_653191;Q5VYY1 Hs.217484 1665889;1670713;1710446;1740635;2130296 D20S990;RH47202;SHGC-32791;SHGC-57024;SHGC-82521 MGC22805 OTTHUMP00000020041;ankyrin repeat domain-containing protein 22 protein-coding HGNC:28321 12461 VALIDATED 1314711 ANKRD26 ankyrin repeat domain 26 This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p12.1 27009534 27105923 - 27284054 27389427 - 26995118 27100498 - 6480464;7240710;8699517;8554872 10470851;12477932;14702039;15164054;15203218;15489334;16344560;17081983;20877624;21211618;21282530;21467542;22118674;22990118;23223974;23869080;24030261;24250222;24255178;24430186 22852 E7ESJ3;H0Y4T9;Q9UPS8 AB028997;ABBA01034403;ABBA01034404;AK001137;AK128577;AL137351;AL162063;AL162272;AMYH02022507;AMYH02022508;BC110646;BC130453;CD626319;CH471072;DA712092;DB228067;NG_031973;NM_001256053;NM_014915;XM_006717423;XM_006717424;XM_006717425;XM_006717426;XM_006717427;XM_006717428;XM_006717429;XM_006717430;XM_006717431;XM_006717432 AAI10647;AAI30454;BAA83026;BAA91516;BAC87508;CAB70706;CAB82401;EAW86073;NP_001242982;NP_055730;Q9UPS8;XP_006717486;XP_006717487;XP_006717488;XP_006717489;XP_006717490;XP_006717491;XP_006717492;XP_006717493;XP_006717494;XP_006717495 Hs.361041 1735990;2125290;2183690 D10S1279E;RH70636;WI-16405 KIAA1074;MGC163325;THC2;bA145E8.1 OTTHUMP00000019356;ankyrin repeat domain-containing protein 26;thrombocytopenia 2 (autosomal dominant) APPROVED protein-coding ENSG00000107890 HGNC:29186 16491 188000;610855 REVIEWED 5129292 ANKRD26P3 ankyrin repeat domain 26 pseudogene 3 13 13 13 q12.11 898817 980968 - 19836940 19919113 - 19262800 19344973 - 11181995;12477932 100101938 ABBA01068552;ABBA01068553;ABBA01068554;AL139327;AL356259;AMYH02027612;AMYH02027613;BC036210;CH471075;KF454905;KF454927;KF455739;KF459786;KF459787;KF459788;KF459789;KF459790;KF459791;KF459792;KF495667;NR_027248 EAX08214 Hs.129283 1758509 SHGC-148527 KIAA1074;LINC00414 pseudo HGNC:39689 VALIDATED 1321281 ANKRD23 ankyrin repeat domain 23 This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 91943786 91949893 - 97488599 97509758 - 96837914 96844021 - 1580863;2314858;2314859;6480464 12456686;15238456 10737800;12477932;14583192;14702039;15489334;15815621;18029348 200539 Q86SG2;Q96MF3 ABBA01036575;AC092636;AF492401;AJ315766;AK057011;AK092564;AMYH02004336;AMYH02004337;AY196212;BC038584;BC107056;BF827606;CH471207;NM_144994 AAI07057;AAO24067;AAO40750;AAY14965;BAB71342;BAC03915;CAC86120;EAW71331;EAW71332;EAW71333;NP_659431;Q86SG2 Hs.643430 1853247;2119172;2182517 RH41816;RH46431;SHGC-56804 DARP;FLJ32449;MARP3;MGC129593 OTTHUMP00000161094;OTTHUMP00000207608;OTTHUMP00000207609;ankyrin repeat domain-containing protein 23;diabetes related ankyrin repeat protein;diabetes-related ankyrin repeat protein;muscle ankyrin repeat protein 3 APPROVED protein-coding ENSG00000163126 HGNC:24470 12462 610736 REVIEWED 1350593 ANKRD30A ankyrin repeat domain 30A ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH bisphenol A; cyclosporin A; genistein 10 10 10 p11.21 37180898 37292246 + 37414785 37521495 + 37125742 37235820 + 1580863;6480464;8554872 11280766;15164054;15342556;16335914;16385451;16675566;17330232;17536312;17903294;18029348;18041742;18187620;18464913;18976975;19043545;21906983;22699663;23314748;23731661 91074 Q5W026;Q9BXX3;R4GNA2 ABBA01033304;ABBA01033305;AC067744;AF269087;AL157387;AL357148;AMYH02022648;AMYH02022649;AMYH02022650;AMYH02022651;AMYH02022652;AMYH02022653;BP312910;CH471072;DN831985;NM_052997;XM_006717527 AAI72447;AAK27325;EAW85904;NP_443723;Q9BXX3;XP_006717590 Hs.373787 1703484 SHGC-82599 NY-BR-1;RP11-20F24.1 OTTHUMP00000019457;OTTHUMP00000019458;ankyrin repeat domain-containing protein 30A;breast cancer antigen NY-BR-1;serologically defined breast cancer antigen NY-BR-1 protein-coding ENSG00000148513 HGNC:17234 10125 610856 VALIDATED 6481446 ANKRD26P4 ankyrin repeat domain 26 pseudogene 4 13 13 31885422 31887065 + 31311285 31312928 + 100873882 ABBA01010123;AL138965;AMYH02027812;NG_032348 pseudo HGNC:39690 INFERRED 7206963 ANKRD30BP3 ankyrin repeat domain 30B pseudogene 3 10 10 10 q11.21 41653310 41684694 + 45650110 45681489 + 45154662 45186041 + 12477932 338579 ABBA01050025;AK098688;AL358394;AL512324;AMYH02022733;BC031237;BC043208;NR_033891 AAH31237;BAC05379 Hs.666134 1782120;5020881;5037552 D8S2279;L17709;SHGC-155154 pseudo HGNC:27873 VALIDATED 1344415 ANKRD30BP2 ankyrin repeat domain 30B pseudogene 2 INTERACTS WITH cadmium atom 18 21 21 q11.2 15126362 15128242 + 14410487 14490572 + 13038166 13118251 + 6480464 12036297;12477932;15489334;17114284 149992 AF427490;AJ239321;AMYH02037511;AP001464;BC036510;BC126176;BC126178;DQ179138;DQ179139;DQ179140;DQ179141;NR_026916 AAM53529;ABB05089 Hs.558645;Hs.579474 5037552 D8S2279 C21orf99;CT85;CTSP-1;CTSP1 APPROVED pseudo HGNC:16620 10779 PROVISIONAL 2303829 ANKRD30BL ankyrin repeat domain 30B-like INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 2 2 2 q21.2 126625218 126734890 - 132905164 133015542 - 132147591 132257969 - 6480464 12477932;15197164;17114284 554226 A7E2S9 ABBA01028222;ABBA01028223;ABBA01028224;AC097532;AC098826;AMYH02004813;AMYH02004814;BC029821;BC045801;BC057764;BC150521;BG719107;CF272540;CH471058;CR747466;NR_027019;NR_027020 A7E2S9;EAX11681 Hs.380689 1711454;1793006 G47279;PMC18377P1 ANKRD30BP3;NCRNA00164 APPROVED pseudo ENSG00000163046 HGNC:35167 VALIDATED 1343361 ANKRD28 ankyrin repeat domain 28 FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; benzo[a]pyrene 3 3 3 p25.1 15646877 15840010 - 15708743 15901053 - 15667236 15859546 - 6480464 12168954;12477932;14702039;14743216;15146197;15231748;16564677;17023142;17928403;18186651;19118547;19380743;19596235;19615732;21139048;21187329;21890473;21963094;21988832;22268729;22586326;22863883;22990118;23000965;24255178;24654937;24816145;9205841 23243 B4DIW9;F8WDU2;O15084 AB002377;ABBA01025136;ABBA01025137;AC090945;AC090950;AI565587;AK126888;AK293770;AK295813;AK299540;AMYH02006333;AMYH02006334;AMYH02006335;AMYH02006336;AY367056;BC035170;BC048975;BC064513;BC080522;BC106948;BC113868;BC114476;BQ423818;CH471055;CN313636;NM_001195098;NM_001195099;NM_015199;XM_005264996;XM_005264997;XM_005264998;XM_006713074;XM_006713075;XM_006713076 AAI06949;AAI13869;AAI14477;AAI66612;AAQ72374;BAA20833;BAC86737;BAG57186;BAG58631;BAG61487;EAW64257;EAW64258;EAW64259;EAW64260;EAW64261;EAW64262;EAW64263;EAW64264;EAW64265;NP_001182027;NP_001182028;NP_056014;O15084;XP_005265053;XP_005265054;XP_005265055;XP_006713137;XP_006713138;XP_006713139 Hs.335239 1336766;1754161;1779014;2140679;2160571;2218220;5014051;5019219;7185155 ANKRD28__4312;D3S1286;D8S2278;DXS7953;SGC30737;SHGC-132190;SHGC-14778;SHGC-76750 KIAA0379;PITK;PPP1R65 OTTHUMP00000207863;OTTHUMP00000207865;OTTHUMP00000208043;PP6-ARS-A;ankyrin repeat domain-containing protein 28;phosphatase interactor targeting K protein;phosphatase interactor targeting protein hnRNP K;protein phosphatase 1, regulatory subunit 65;protein phosphatase 6 ankyrin repeat subunit A;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A;serine/threonine-protein phosphatase 6 regulatory subunit ARS-A protein-coding ENSG00000206560 HGNC:29024 10651 611122 VALIDATED 1350728 ANKRD30BP1 ankyrin repeat domain 30B pseudogene 1 21 21 21 q11.2 22904 45940 - 14756163 14800096 - 13383842 13427775 - 642460 ABBA01030838;AL050302;AMYH02037512;NG_009612 1695616;1729604;1730632;1731337;1759837;1857640 D21S215;D21S308;D21S369;G48498;SHGC-170076;SHGC-51833 ANKRD30BP;C21orf110;PRED4 APPROVED pseudo HGNC:19722 INFERRED 1316102 ANKRD27 ankyrin repeat domain 27 (VPS9 domain) ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity; INVOLVED IN early endosome to late endosome transport; positive regulation of GTPase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; early endosome; lysosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; cycloheximide 19 19 19 q13.11 29781556 29859734 - 33087907 33166102 - 32597001 32675200 - 737633;1580863;6480464;8554872 12477932 11076863;11230166;11256614;14702039;15231748;15489334;15489336;15498874;16381901;16525121;18477474;19745841;19913121;19946888;20628086;21139048;21906983;23104059;23377640;24816145 84079 K7EIH4;K7EIN0;K7ELM1;K7ENE0;K7EPM2;Q96NW4;V9GYL8 AA903176;ABBA01039596;ABBA01039597;ABBA01039598;ABBA01039599;AC008474;AF447882;AK054561;AL136784;AL834335;AMYH02035920;BC015552;BC045605;BC050529;BI462844;NM_032139;XM_005259310;XM_006723412;XM_006723413 AAH50529;AAQ04657;BAB70755;CAB66718;CAD39003;CAL38738;NP_115515;Q96NW4;XP_005259367;XP_006723475;XP_006723476 Hs.59236 1734658;1767560 D19S607;D19S661E DKFZP434L0718;FLJ00040;PP12899;VARP VPS9 domain-containing protein;VPS9-ankyrin-repeat protein;Vps9 domain and ankyrin-repeat-containing protein;ankyrin repeat domain-containing protein 27 protein-coding ENSG00000105186 HGNC:25310 10650 VALIDATED 1317259 ANKRD29 ankyrin repeat domain 29 INTERACTS WITH 17beta-estradiol; arsenous acid; benzo[a]pyrene diol epoxide I 18 18 18 q11.2 17996135 18059022 - 21179977 21242849 - 23600013 23662885 - 737633;6480464 12477932 14702039;15489334;17207965;24256812;8889548 147463 K7EL63;K7EQM1;Q8N6D5;V9GYT2 ABBA01022627;ABBA01022628;ABBA01022629;ABBA01022630;ABBA01022631;ABBA01022632;AC010853;AK057782;AK123197;AK313667;AMYH02034418;BC030622;BM680506;CH471088;NM_173505 AAH30622;ADQ31854;BAB71569;BAC85555;BAG36419;EAX01159;EAX01160;NP_775776;Q8N6D5 Hs.374774 1672868;1672903;1731737;2151545;2171454 D18S511;G22474;HSCZUA082;RH11997;WI-14696 FLJ25053 OTTHUMP00000162701;ankyrin repeat domain-containing protein 29 protein-coding HGNC:27110 12464 VALIDATED 1354207 ANKRD30B ankyrin repeat domain 30B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; 3-methylcholanthrene; 5-aza-2'-deoxycytidine 21 18 18 p11.21 383 101344 - 14748239 14852737 + 14748240 14852738 + 6480464;8554872 11280766;12477932 374860 Q9BXX2 AADB02020312;AADB02020314;AADB02020315;AADB02020317;ABBA01074081;AF269088;AK294693;AMYH02034359;AMYH02034360;AMYH02034361;AP005121;AP006507;AP006564;AP006565;BC028407;CH471277;NM_001145029;XM_006722325 AAK27326;BAG57852;EAW53959;NP_001138501;Q9BXX2;XP_006722388 Hs.567889 1695616;1729604;1731337;1759837;5022578 D1S1423;D21S215;D21S369;G48498;SHGC-170076 NY-BR-1.1 ankyrin repeat domain-containing protein 30B;breast cancer antigen NY-BR-1.1;serologically defined breast cancer antigen NY-BR-1.1 protein-coding ENSG00000180777 HGNC:24165 VALIDATED 6481081 ANKRD33B-AS1 ANKRD33B antisense RNA 1 p15.2 100874247 AC106760;BG775433 APPROVED ncrna HGNC:41298 6480966 ANKRD33B-IT1 ANKRD33B intronic transcript 1 (non-protein coding) 100874376 AC106760 miscrna HGNC:41506 1344617 ANKRD33 ankyrin repeat domain 33 INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); negative regulation of transcription regulatory region DNA binding (inferred); skeletal muscle cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); nucleus (inferred); INTERACTS WITH paracetamol (ortholog) 12 12 12 q13.13 51083930 51087642 + 52281745 52285505 + 51888009 51891721 + 6480464;8554872 12477932;14702039;16541075;20026326;21107309 341405 F8VTQ6;Q0VAA8;Q5K617;Q7Z3H0 ABBA01031619;AC025259;AF517108;AF517109;AF517110;AF517111;AF517112;AF517113;AF517114;AF517115;AF517116;AF517117;AF517118;AF517119;AF517120;AK125517;AMYH02026495;BC121152;BC121153;BX537908;BX640656;BX647684;BX649168;CH471111;NM_001130015;NM_182608;XM_005268833;XM_005268834;XM_006719371 AAI21153;AAI21154;AAQ07989;AAQ07990;AAQ07991;AAQ07992;AAQ07993;AAQ07994;AAQ07995;AAQ07996;AAQ07997;AAQ07998;BAC86190;CAD97893;CAE45798;EAW58207;EAW58208;EAW58209;EAW58210;NP_001123487;NP_872414;Q7Z3H0;XP_005268890;XP_005268891;XP_006719434 Hs.433492 2184069;5107125 G65568;SHGC-32462 C12orf7;DKFZp686O1689 OTTHUMP00000241374;OTTHUMP00000241376;PANKY;ankyrin repeat domain-containing protein 33 protein-coding ENSG00000167612 HGNC:13788 12465 VALIDATED 1312535 ANKRD32 ankyrin repeat domain 32 FOUND IN centrosome (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; aflatoxin B1 5 5 5 q15 89816284 89893469 + 93953086 94033326 + 94617386 94697621 + 6480464 11230166;12477932;15632077;21139048;21693764;21963094;22036607 84250 B4DMG4;D6RED9;H0YBU1;I6L9F1;Q9BQI6 ABBA01069268;AC008534;AC025766;AK297452;AK299080;AK309859;AL050298;AL136560;AMYH02011812;AMYH02011813;AMYH02011814;BC015315;BC054885;BC063674;BC070332;BC107571;BU431750;CH471084;CR533539;CR936768;DR001089;KC877045;NM_032290;XM_005272113;XM_006714720 AAH54885;AAH63674;AAH70332;AAI07572;ACE86937;ACE87625;BAG59876;BAG61145;CAB43397;CAB66495;CAG38570;EAW96026;EAW96027;EAW96028;EAW96029;NP_115666;Q9BQI6;XP_005272170;XP_006714783 Hs.657315 1647531;1656655;1847111 A006Q05;R58928;RH12463 BRCTD1;BRCTx;DKFZp564C0469;DKFZp761C121 BRCT domain containing 1;BRCT domain-containing protein 1;OTTHUMP00000149936;ankyrin repeat domain-containing protein 32 protein-coding ENSG00000133302 HGNC:25408 08538 VALIDATED 1347090 ANKRD34A ankyrin repeat domain 34A FOUND IN cytoplasm; INTERACTS WITH arsenite(3-); melphalan; choline (ortholog) 1 1 1 q21.1 119673860 119679002 + 145470508 145475647 + 145959441 145964582 - 6480464 14702039;16344560;18029348;8889548 284615 Q69YU3 ABBA01005743;ABBA01005744;AC243547;AK094282;AK128050;AL160282;AL359622;BM723295;DA081864;NM_001039888;XM_005277391;XM_006711279 BAG52855;BAG54622;CAH10676;NP_001034977;Q69YU3;XP_005277448;XP_006711342 Hs.620591 1658744 SHGC-3211 ANKRD34;DKFZp761F202 OTTHUMP00000015577;ankyrin repeat domain 34;ankyrin repeat domain-containing protein 34A protein-coding ENSG00000272031 HGNC:27639 VALIDATED 1354086 ANKRD31 ankyrin repeat domain 31 ASSOCIATED WITH Lung Neoplasms (inferred) 5 5 5 q13.3 70258290 70426854 - 74364122 74532703 - 75068297 75236878 - 6480464;8554872 14702039;22952603;24250222 256006 D6RJB7;Q8N7Z5 ABBA01061941;ABBA01061942;AC008769;AC093259;AK097510;AMYH02011582;AMYH02011583;NM_001164443 BAC05081;NP_001157915;Q8N7Z5 Hs.482533 1338742;1339587;1690570;1699120;1779202;1780180;1857253;2144805;2175013 AFMa106we5;D5S1351;D5S2003;D5S2643;RH103136;RH75379;SHGC-150778;SHGC-154551;STS-AA010697 FLJ40191 ankyrin repeat domain-containing protein 31;putative ankyrin repeat domain-containing protein 31 protein-coding ENSG00000145700 HGNC:26853 INFERRED 2307384 ANKRD33B ankyrin repeat domain 33B ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-demecolcine; paracetamol; valproic acid 5 5 5 p15.2 10602518 10695071 + 10564435 10657928 + 10564323 10657816 + 6480464;8554872 14702039;15372022 651746 A6NCL7;D6R912 ABBA01020604;ABBA01020605;AC106760;AC112200;AF056441;AK023999;AMYH02010852;AMYH02010853;BC018597;HG497769;NM_001164440;XM_005248343;XM_005248344 A6NCL7;NP_001157912;XP_005248400;XP_005248401 Hs.26039 1763237;2174939 A006S19;SHGC-146966 RP11-215G15.5 Ankyrin repeat domain-containing protein LOC651746;OTTHUMP00000221154;ankyrin repeat domain-containing protein 33B protein-coding HGNC:35240 VALIDATED 1604706 ANKRD34B ankyrin repeat domain 34B FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 1,3-dinitrobenzene (ortholog); 2,2',5,5'-tetrachlorobiphenyl (ortholog); choline (ortholog) 5 5 5 q14.1 75753876 75767603 - 79852574 79866304 - 80556755 80570485 - 6480464 12477932;15358210 340120 A5PLL1;D6RH12 ABBA01062043;AC008434;AC018764;AMYH02011669;AMYH02011670;AMYH02011671;BC137441;BC137442;BC142957;CH471084;CR749535;NM_001004441;XM_006714599 A5PLL1;AAI37442;AAI37443;AAI42958;AAI43088;AAI43089;ACE86934;CAH18341;EAW95857;EAW95858;NP_001004441;XP_006714662 Hs.519404 DP58 OTTHUMP00000222288;OTTHUMP00000222289;ankyrin repeat domain-containing protein 34B;cytosolic phosphoprotein DP58;dendritic phosphoprotein 58 kDa protein-coding ENSG00000189127 HGNC:33736 13246 VALIDATED 4144543 ANKRD36BP2 ankyrin repeat domain 36B pseudogene 2 2 2 2 p11.2 87683191 87723878 - 89065419 89106110 + 88765902 88806596 + 12477932;14702039 645784 ABBA01018821;ABBA01018822;ABBA01018823;AC096579;AC244205;AK097649;AL137717;BC031698;BX537549;BX648045;NR_015424 Hs.105323 1686590;2174363 RH66284;STS-M78662 DKFZp434J1630;DKFZp686E1246;DKFZp686O04183;FLJ40330 pseudo ENSG00000230006 HGNC:33607 PREDICTED 2291762 ANKRD34C ankyrin repeat domain 34C ASSOCIATED WITH Melanoma (inferred) 15 15 15 q25.1 56511721 56527148 + 79575146 79590581 + 79282804 79298239 + 8554872 14702039 390616 P0C6C1 ABBA01060605;AC011797;AK090665;AK127037;AL109678;AMYH02030876;NM_001146341 NP_001139813;P0C6C1 Hs.531231 1646250;1783186 SHGC-142380;WI-15561 FLJ33346;FLJ45093 ankyrin repeat domain-containing protein 34C protein-coding HGNC:33888 VALIDATED 1352290 ANKRD35 ankyrin repeat domain 35 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; pirinixic acid; progesterone 1 1 1 q21.1 119752581 119771890 + 145549209 145568526 + 145866560 145885866 - 6480464;8554872 12107411;12477932;14702039;15489334;16344560;16710414;19471022;21900206 148741 B4DFX6;B4DL62;Q8N283 ABBA01005742;AC243547;AK057853;AK091120;AK294308;AK296861;AL160282;AW245831;BC101618;BC101620;BQ636616;CH471244;DA399526;HY327286;NM_001280799;NM_144698 AAI01619;AAI01621;BAB71597;BAC03587;BAG57587;BAG59424;EAW71426;EAW71427;NP_001267728;NP_653299;Q8N283 Hs.710624 2135574 AL009334 FLJ25124;MGC126667;MGC126669 OTTHUMP00000015579;ankyrin repeat domain-containing protein 35 protein-coding ENSG00000198483 HGNC:26323 08050 VALIDATED 1342961 ANKRD36 ankyrin repeat domain 36 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-fluorouracil; methyl methanesulfonate 2 2 2 q11.2 537 4472 + 97778923 97930258 + 97113186 97264521 + 737633;6480464;8554872 12477932 10997877;12975309;14702039;15489334;15815621;16344560;17207965;8889548 375248 A6QL64 AB046861;ABBA01010977;ABBA01036558;ABBA01036559;ABBA01036560;ABBA01036561;AC018892;AC160020;AF543495;AK090926;AK304740;AK307629;AK316541;AMYH02004340;AMYH02004341;AMYH02004342;AMYH02004343;AMYH02004344;AMYH02004345;AY358571;BC046186;BC128262;BC128517;BC146835;BX647769;CH471207;DA952980;DB516113;DW413497;NM_001164315;XM_005263937;XM_005263938;XM_006712514;XM_006712515;XM_006712516;XM_006712517;XR_427086 A6QL64;AAH46186;AAI28263;AAI28518;AAI46836;AAN40505;AAQ88934;AAY14642;ADQ33052;BAB13467;BAG65500;BAH14912;EAW71306;EAW71307;NP_001157787;XP_005263994;XP_005263995;XP_006712577;XP_006712578;XP_006712579;XP_006712580 Hs.541894 1690938;2185484 G04101;RH92495 FLJ33607;KIAA1641;MGC167812;UNQ2430 OTTHUMP00000207832;ankyrin repeat domain-containing protein 36;ankyrin repeat domain-containing protein 36A;ankyrin-related protein-coding ENSG00000135976 HGNC:24079 16492 PROVISIONAL 2303683 ANKRD36BP1 ankyrin repeat domain 36B pseudogene 1 INTERACTS WITH copper(2+) sulfate; disodium selenite (ortholog); flutamide (ortholog) 1 1 1 q24.2 141323828 141325693 - 168214803 168216668 - 168245565 168247430 - 6480464 12477932;16189514;16344560;21832049 84832 Q96IX9 ABBA01047231;AL009051;AMYH02002102;BC007072;DA219755;DA246884;DB229590;NR_026844 Q96IX9 Hs.537067 1671868;1676606;2174363 D1S279E;RH64481;STS-M78662 ANKRD26L1;ANKRD36BL1;MGC12538 APPROVED pseudo ENSG00000214262 HGNC:28169 VALIDATED 1604164 ANKRD37 ankyrin repeat domain 37 FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-demecolcine; 1,10-phenanthroline; 17beta-estradiol 4 4 4 q35.1 183644030 183647577 + 186317840 186321529 + 185396686 185400375 + 6480464 12477932;15489334;15809689;19491311;21890473;24250222 353322 B4E066;D6RCL4;D6RFF5;Q7Z713 ABBA01070532;AC106897;AK303243;AMYH02010662;AY296056;BC088376;CH471056;NM_181726;XM_005262981 AAH88376;AAP50252;BAG64328;EAX04647;EAX04648;NP_859077;Q7Z713;XP_005263038 Hs.508154 1649687;1666840;2128602 SHGC-67400;SHGC-68105;WI-14754 Lrp2bp;MGC111507 OTTHUMP00000218248;ankyrin repeat domain-containing protein 37;hLrp2bp;low density lipoprotein receptor-related protein binding protein;low-density lipoprotein receptor-related protein 2-binding protein protein-coding ENSG00000186352 HGNC:29593 17461 PROVISIONAL 1602616 ANKRD36C ankyrin repeat domain 36C INTERACTS WITH cytarabine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 2 2 2 q11.1 91015332 91035982 - 96516914 96658068 - 95828730 95992320 - 6480464 14702039;22505724;8608414 400986 E9PJI0;H0YDI7;H7BXK8;Q5JPF3 ABBA01030072;ABBA01030073;ABBA01030074;ABBA01030075;ABBA01030076;ABBA01030077;ABBA01030078;ABBA01030079;AC008268;AC013272;AC073995;AK123626;AK124101;AK302433;AL832836;AL832977;AMYH02004320;AMYH02004321;U28831;XM_003960295;XM_005276211;XM_005276212;XM_005276213;XM_006710134;XM_006710135;XM_006710136;XM_006710137;XM_006712888;XM_006712889;XM_006712890;XM_006712891;XM_006712892;XM_006712893;XM_006726394;XM_006726395;XM_006726396;XR_251121;XR_251122;XR_251123;XR_251124;XR_251125;XR_251126;XR_251127;XR_251128;XR_425435;XR_425436;XR_425437;XR_427131;XR_427132;XR_427133;XR_427134;XR_427135;XR_427136;XR_427137;XR_431454;XR_431455 AAB02177;BAG63735;CAH56324;CAI46156;Q5JPF3;XP_003960344;XP_005276268;XP_005276269;XP_005276270;XP_006710197;XP_006710198;XP_006710199;XP_006710200;XP_006712951;XP_006712952;XP_006712953;XP_006712954;XP_006712955;XP_006712956;XP_006726457;XP_006726458;XP_006726459 Hs.646318 2174363 STS-M78662 FLJ42107;HEM1 OTTHUMP00000207419;ankyrin repeat domain-containing protein 36C;protein immuno-reactive with anti-PTH polyclonal antibodies APPROVED protein-coding HGNC:32946 17388 MODEL 1602991 ANKRD40 ankyrin repeat domain 40 INTERACTS WITH atrazine; bisphenol A; hydrogen peroxide 17 17 17 q21.33 45231886 45246618 - 48770551 48785270 - 50693190 50707909 - 6480464 12477932;15489334;17207965;19322201;19913121;20628086;21139048;21906983;21942715;22863883;23443559;24816145 91369 A8IK34;K7ERW4;Q6AI12 ABBA01041244;AC005921;AK314010;AMYH02033597;BC005853;BC012978;CH471109;CR627413;EU164539;NM_052855 AAH12978;ABW05020;ADQ32683;BAG36721;CAH10502;EAW94589;NP_443087;Q6AI12 Hs.463426 5016478 GDB:434012 DKFZp451K241;MGC15396 OTTHUMP00000221729;ankyrin repeat domain-containing protein 40 protein-coding ENSG00000154945 HGNC:28233 17502 VALIDATED 1605233 ANKRD42 ankyrin repeat domain 42 ENCODES a protein that exhibits NF-kappaB binding (inferred); structural constituent of ribosome (inferred); INVOLVED IN positive regulation of cytokine production involved in inflammatory response (inferred); positive regulation of NF-kappaB transcription factor activity (inferred); translation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); ribosome (inferred); INTERACTS WITH all-trans-retinoic acid; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q14.1 80214956 80269666 + 82904754 82967719 + 83193712 83260270 + 6480464;8554872 12477932;14702039;15489334;17123353;21382349;21906983;22118674 338699 E9PIL2;E9PKE2;E9PP91;E9PR10;F8W6I9;H0YE80;Q8N9B4 ABBA01017362;AK095193;AK310765;AMYH02025191;AP000873;BC045621;BC062729;BC171752;BU674837;BX648690;CA447533;CH471076;DQ508815;DQ508934;EF041819;NM_001300972;NM_001300973;NM_001300975;NM_001300976;NM_001300977;NM_182603;NR_125355;XM_005273971;XM_005273972;XM_006718532 AAH45621;AAH62729;ABF57994;ABF60230;ABL09300;BAC04496;EAW75086;EAW75087;NP_001287901;NP_001287902;NP_001287904;NP_001287905;NP_001287906;NP_872409;Q8N9B4;XP_005274028;XP_005274029;XP_006718595 Hs.503438;Hs.657164 1700012;1737643;2174205;5016679 A004Q14;D11S3248;RH103618;RH70808 FLJ37874;PPP1R79;SARP OTTHUMP00000235034;OTTHUMP00000235036;OTTHUMP00000235037;OTTHUMP00000235038;ankyrin repeat domain-containing protein 42;several ankyrin repeat protein protein-coding ENSG00000137494 HGNC:26752 08230 VALIDATED 3378225 ANKRD36P1 ankyrin repeat domain 36 pseudogene 1 Y Y Y q11.23 9481640 9502237 + 28555667 28585150 + 26409520 26439003 + 9847074 100132420 ABBA01015501;ABBA01015502;ABBA01015503;ABBA01015504;ABBA01015505;ABBA01015506;AC013734;NG_029080 5116742 sY3159 pseudo HGNC:37759 INFERRED 1352925 ANKRD36B ankyrin repeat domain 36B INTERACTS WITH 5-fluorouracil; copper(2+) sulfate; crotonaldehyde 2 2 2 q11.2 16405 32510 + 98109009 98206708 - 97492663 97590245 - 737633;6480464 12477932 10997877;12107410;14702039;15489334;16344560 57730 Q8N2N9;Q8TDH5 ABBA01073644;ABBA01073645;ABBA01073646;ABBA01160606;AC017099;AC073995;AC159540;AF432208;AF432209;AK024934;AK056042;AK074570;AMYH02004373;AMYH02004374;AMYH02004375;BC017427;BC031883;BC038460;BC044844;BC071771;BC125132;BC125133;BM511319;CA394381;CH878726;CR741521;DB105321;DB353103;DR001190;NM_025190;XM_005263995;XM_006712661;XM_006712662;XM_006712663;XM_006712664;XM_006712665;XM_006712666;XM_006712667;XM_006712668;XM_006712669;XM_006712670;XR_244894 AAH31883;AAH44844;AAI25133;AAI25134;AAL99915;AAL99916;AAY24080;BAB15039;BAB71081;BAC11066;EAW53903;EAW53904;EAW53905;EAW53906;EAW53907;EAW53908;NP_079466;Q8N2N9;XP_005264052;XP_006712724;XP_006712725;XP_006712726;XP_006712727;XP_006712728;XP_006712729;XP_006712730;XP_006712731;XP_006712732;XP_006712733 Hs.532921 1690938;5020948;5022578;5022651 D11S2921;D1S1423;G35510;RH92495 FLJ21281;FLJ90089;KIAA1641;MGC149864;MGC149865;MGC167812 CLL-associated antigen KW-1;OTTHUMP00000161108;ankyrin repeat domain-containing protein 36B;melanoma-associated antigen protein-coding ENSG00000196912 HGNC:29333 10027 PROVISIONAL 6481072 ANKRD44-IT1 ANKRD44 intronic transcript 1 (non-protein coding) 2 2 q33.1 198115585 198167243 - 197250858 197302519 - 12477932;9847074 101927547 ABBA01062468;ABBA01062469;ABBA01062470;AC010746;AC074092;AMYH02005518;BC042827;HG495096;NR_046837 Hs.687027 AC010746.2 ncrna HGNC:41477 VALIDATED 1602717 ANKRD39 ankyrin repeat domain 39 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 2-methylcholine; benzo[a]pyrene 2 2 2 q11.2 91953885 91963918 - 97513722 97523756 - 96847985 96858019 - 6480464;8554872 11042152;12477932;15489334;15592455;15815621;16344560;17207965;21145461;21832049;21906983;23824909 51239 Q53RE8 ABBA01036574;AC092636;AF151034;AK312193;AMYH02004337;BC031303;BU626151;BX091421;CH471207;DA769410;NM_016466 AAF36120;AAH31303;AAY14966;ADQ32451;BAG35126;EAW71328;EAW71329;EAW71330;NP_057550;Q53RE8 Hs.709507 1848143;1851835 D2S2834;RH78004 MGC41816 OTTHUMP00000161089;OTTHUMP00000207740;ankyrin repeat domain-containing protein 39 protein-coding ENSG00000213337 HGNC:28640 14614 VALIDATED 1605602 ANKRD44 ankyrin repeat domain 44 INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; arsenite(3-) 2 2 2 q33.1 191615131 191818640 - 197831741 198175521 - 196967017 197310797 - 6480464 12477932;14702039;15489334;16555005;18186651;19240061;19596235;20379614;21187329;22990118;24255178 91526 B7Z6Z7;C9JY51;F8WBW3;H7C209;H7C3P1;H7C4A0;J3KN93;Q8N8A2 ABBA01062465;ABBA01062466;ABBA01062467;ABBA01062468;AC010746;AC013264;AC017035;AC074092;AI439698;AK021632;AK097086;AK124039;AK301209;AL133087;AMYH02005517;AMYH02005518;BC016985;BC050586;BC063622;CH471063;NM_001195144;NM_153697;XM_005246945;XM_005246946;XM_005246947;XM_005246948;XM_006712838 AAH16985;AAH50586;AAH63622;AAX93155;AAY15060;BAC04946;BAH13433;CAB61404;EAW70141;EAW70142;NP_001182073;NP_710181;Q8N8A2;XP_005247002;XP_005247003;XP_005247004;XP_005247005;XP_006712901 Hs.432706 1652267;1658405;1666191;1677925;1679389;1700264;1734958;1754445;1778775;2165524;2178505;5022450;5037552 A008Y34;AFMa121yh1;D10S275;D2S1710E;D2S2651;D2S2667;D8S2279;RH103749;RH93013;RH94357;SHGC-132573;SHGC-17220;SHGC-36159 FLJ11570;MGC21968;MGC70444;PP6-ARS-B OTTHUMP00000205625;OTTHUMP00000205626;OTTHUMP00000205627;OTTHUMP00000205628;ankyrin repeat domain-containing protein 44;protein phosphatase 6 ankyrin repeat subunit B;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B;serine/threonine-protein phosphatase 6 regulatory subunit ARS-B protein-coding ENSG00000065413 HGNC:25259 14284 VALIDATED 1606551 ANKRD49 ankyrin repeat domain 49 INVOLVED IN positive regulation of transcription, DNA-templated; FOUND IN nucleus (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q21 91514963 91520554 + 94227153 94232744 + 94493987 94499578 + 6480464 11162141;11371508;12477932;14702039;15489334;16131492;17207965;19773279;25036637 54851 F5GWD9;F5H227;F5H3B3;F5H7L0;F6R851;Q8WVL7 ABBA01040029;AF025354;AK000196;AK000448;AK057696;AL833977;AMYH02025373;AP000786;AP000943;BC017798;BG025192;CH471065;NM_017704 AAH17798;AAK60412;ACE86482;ACE87163;ADQ32155;BAA91003;CAD38821;EAW66935;EAW66936;NP_060174;Q8WVL7 Hs.29052 1689682;1772028;1788090;1788100;2156266 G67220;G67298;RH68924;SHGC-35949;STS-R70005 FGIF;FLJ20189;FLJ20441;GBIF OTTHUMP00000236878;OTTHUMP00000236884;OTTHUMP00000236885;ankyrin repeat domain-containing protein 49;fetal globin-inducing factor protein-coding ENSG00000168876 HGNC:25970 16893 VALIDATED 1603620 ANKRD50 ankyrin repeat domain 50 INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; cobalt dichloride 4 4 4 q28.1 122965825 123014509 - 125585203 125633887 - 124664048 124712732 - 6480464 10574462;12477932;14702039;21832049 57182 Q8TB46;Q9ULJ7 AA628892;AB033049;ABBA01044769;AC105421;AF075020;AK091516;AK127496;AK291068;AK295135;AL110131;AMYH02010035;BC024725;BE887185;BX508307;BX640674;CD359799;CH471056;CX871714;NM_001167882;NM_020337 AAH24725;ADZ15484;BAA86537;BAC87007;BAF83757;BAG58158;CAE45806;EAX05206;NP_001161354;NP_065070;Q9ULJ7 Hs.480694 1645736;1687672;1772216;2147810;2175273;2180036 D4S3303;G09526;RH99075;SHGC-36222;SHGC-50186;STS-R72441 KIAA1223 OTTHUMP00000220148;OTTHUMP00000220149;ankyrin repeat domain-containing protein 50 protein-coding ENSG00000151458 HGNC:29223 13843 VALIDATED 1606443 ANKRD46 ankyrin repeat domain 46 This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 8 8 8 q22.2 97718378 97757379 - 101521980 101572014 - 100509752 100559786 - 6480464;8554872 11297942;12477932;14702039;15152081;15489334;16344560;17176038;19322201;21041692;21139048;21219636;21890473;21906983;21963094;22053931;22559327;23000965;8619474;9110174 157567 B3KT99;E5RFM7;E5RHV2;E5RI04;E5RI20;J3KP26;Q86W74 AB077205;ABBA01037578;AK095235;AL832842;AMYH02018505;AP000424;BC015811;BC035087;BC050396;BC060843;CH471060;DA503253;KC877291;NM_001270377;NM_001270378;NM_001270379;NM_198401;U79297;XM_006716509 AAH50396;AAH60843;BAD23947;BAG53011;CAI46169;EAW91808;EAW91809;EAW91810;EAW91811;NP_001257306;NP_001257307;NP_001257308;NP_940683;Q86W74;XP_006716572 Hs.530199 1646744;1690097;1773853;1773939;1848284;2154363;2154365;5094908 A005E22;A005P20;ANKRD46;D8S2126;G20396;HSCZOG032;RH15880;RH93372 ANK-S;GENX-115279 OTTHUMP00000227299;OTTHUMP00000227300;OTTHUMP00000227301;OTTHUMP00000227302;OTTHUMP00000227304;ankyrin repeat domain-containing protein 46;ankyrin repeat small protein APPROVED protein-coding ENSG00000186106 HGNC:27229 14103 REVIEWED 1605877 ANKRD54 ankyrin repeat domain 54 ENCODES a protein that exhibits protein complex binding (inferred); protein kinase regulator activity (inferred); INVOLVED IN positive regulation of erythrocyte differentiation (ortholog); regulation of intracellular signal transduction (ortholog); FOUND IN cytoplasm (ortholog); midbody (ortholog); nucleus (ortholog); INTERACTS WITH 2-methylcholine; copper(2+) sulfate; methyl methanesulfonate 22 22 22 q13.1 22028653 22042127 - 38226862 38240353 - 37830854 37848693 - 6480464 10591208;12477932;14702039;15461802;15489334;22527282;23503679 129138 B5MCX7;C9JU48;C9JX82;D3YTC9;F8WB76;H7BZV9;H7C3L3;Q6NXT1;V9GYU2 ABBA01055489;ABBA01055490;AK127583;AMYH02038341;AMYH02038342;BC014641;BC066909;BX401122;CD300696;CH471095;CR456471;NM_138797;NR_036556;XM_006724135;XM_006724136;XM_006724137;XM_006724138;Z97630 AAH14641;AAH66909;BAC87043;CAG30357;EAW60192;EAW60193;EAW60194;NP_620152;Q6NXT1;XP_006724198;XP_006724199;XP_006724200;XP_006724201 Hs.135259 2173725;2175739;2181145 A006R14;G28411;HSC1OE012 LIAR OTTHUMP00000198179;OTTHUMP00000198181;OTTHUMP00000198182;OTTHUMP00000198183;OTTHUMP00000198184;OTTHUMP00000198186;ankyrin repeat domain-containing protein 54;lyn-interacting ankyrin repeat protein protein-coding ENSG00000100124 HGNC:25185 14042 613383 VALIDATED 1601705 ANKRD52 ankyrin repeat domain 52 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog); aflatoxin B1 (ortholog) 12 12 12 q13.3 56284485 56305031 - 56631591 56652143 - 56237807 56258359 - 6480464;8554872 12477932;12975309;14702039;16541075;16964243;18186651;19596235;19615732;19913121;20628086;21187329;21963094;22505724;22586326;24255178 283373 B3KWN0;Q8NB46 AB190990;ABBA01008412;ABBA01008413;ABBA01008414;AC073896;AK056831;AK125379;AK126893;AMYH02026563;AY358160;BC024309;BC042070;CH471054;DR002390;NM_173595 AAQ88527;BAG16262;BAG54192;EAW96919;NP_775866;Q8NB46 Hs.524506 1644667;1686054 RH98394;SGC34394 ANKRD33;FLJ34236 CVWG5837;OTTHUMP00000243511;PP6-ARS-C;ankyrin repeat domain 33;ankyrin repeat domain-containing protein 52;protein phosphatase 6 ankyrin repeat subunit C;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C;serine/threonine-protein phosphatase 6 regulatory subunit ARS-C protein-coding ENSG00000139645 HGNC:26614 VALIDATED 1606657 ANKRD45 ankyrin repeat domain 45 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q25.1 146686889 146748471 - 173577475 173639001 - 173608336 173669862 - 8554872 12477932;14702039;16710414;21832049 339416 Q5TZF3 ABBA01027902;ABBA01027903;AK127170;AL139142;AMYH02002156;BC029866;BC126353;BC126355;BX248409;CH471067;NM_198493 AAI26354;AAI26356;ADR82913;BAC86865;EAW90950;NP_940895;Q5TZF3 Hs.130054 1648097;1704218;5037552 D8S2279;GDB:1317994;SHGC-83129 CT117;FLJ45235;MGC161631;MGC161633;RP3-436N22.4 OTTHUMP00000038346;ankyrin repeat domain-containing protein 45;cancer/testis antigen 117 protein-coding HGNC:24786 13501 VALIDATED 1605952 ANKRD55 ankyrin repeat domain 55 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; progesterone; silicon dioxide 5 5 5 q11.2 52349365 52481877 - 55395507 55529186 - 56099675 56233359 - 6480464;8554872 12477932;14702039;15372022;15489334;16344560;20080650;20211142;20453842;20686565;21383967;22130326;23128233;23263486;23315543;23382691;23457408;23535033;24390342 79722 D6R9N4;D6RBD3;Q3KP44 ABBA01015761;ABBA01015762;AC016585;AC016638;AK021857;AK123389;AMYH02011325;AMYH02011326;AMYH02011327;AMYH02011328;AW269928;BC106914;BC106915;CH471123;DA292581;KC876981;KF457925;NM_024669;XM_005248599;XM_006714691 AAI06915;AAI06916;BAB13916;BAG53900;EAW54941;EAW54942;NP_078945;Q3KP44;XP_005248656;XP_006714754 Hs.436214 1340434;1652121;1654241;1659837;1680042;1681708;1729654;1767769;2128625;2166710;2179445 A006Y08;D5S1547;D5S1739;D5S1966;D5S354;G16892;G19195;RH64979;RH80632;SGC30290;WI-13498 FLJ11795;MGC126013;MGC126014 OTTHUMP00000221878;OTTHUMP00000221879;ankyrin repeat domain-containing protein 55 protein-coding ENSG00000164512 HGNC:25681 07758 615189 VALIDATED 1605329 ANKRD53 ankyrin repeat domain 53 INTERACTS WITH benzo[a]pyrene; choline (ortholog); folic acid (ortholog) 2 2 2 p13.3 71056255 71063308 + 71205172 71212629 + 70978028 70985499 + 6480464 12477932;14702039;15489334;16344560;20211142 79998 C9JQK2;C9JZ61;Q8N9V6 ABBA01075545;AC007040;AK022118;AK093479;AMYH02004048;BC035234;CH471053;DB036445;NM_001115116;NM_024933;XM_005264569 AAH35234;BAC04181;EAW99786;EAW99787;EAW99788;EAW99789;NP_001108588;NP_079209;Q8N9V6;XP_005264626 Hs.512744 1649349;1789242;5022322;5037552 D11S2560;D8S2279;G65621;RH47589 FLJ12056;FLJ36160 OTTHUMP00000160126;OTTHUMP00000203459;OTTHUMP00000203460;OTTHUMP00000203461;ankyrin repeat domain-containing protein 53 protein-coding ENSG00000144031 HGNC:25691 07762 VALIDATED 3476309 ANKRD57P1 ankyrin repeat domain 57 pseudogene 1 Y Y q11.1 13323668 13324836 - 11167992 11169160 - 100131984 ABBA01017939;AC134878;NG_022994 2111288 D17S837 pseudo HGNC:37984 INFERRED 4889255 ANKRD54P1 ankyrin repeat domain 54 pseudogene 1 10 10 10 41650079 41650804 - 45646888 45647613 - 45151440 45152165 - 100419962 ABBA01050025;AL358394;AMYH02022733;NG_025432 pseudo HGNC:39214 INFERRED 2302254 ANKRD62 ankyrin repeat domain 62 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 18 18 18 p11.21 11976190 12012264 + 12093848 12129763 + 12093849 12129764 + 6480464;8554872 342850 A6NC57 ABBA01074010;AMYH02034323;AMYH02034324;AP002414;BX648696;BX649021;CH471113;DW010010;DW010011;EG328348;NM_001277333;XM_003959949 A6NC57;EAX01556;EAX01557;NP_001264262;XP_003959998 Hs.448906 1786048;5014051;5037552 D8S2278;D8S2279;SHGC-155539 DKFZp686E2239;DKFZp779B1634 ankyrin repeat domain-containing protein 62 protein-coding HGNC:35241 VALIDATED 1315900 ANKRD60 ankyrin repeat domain 60 INTERACTS WITH benzo[a]pyrene; cadmium dichloride; paracetamol (ortholog) 20 20 20 q13.32 53533993 53544127 - 56793510 56804039 - 58218454 58223281 - 6480464 11780052;19893584;19913121;20628086 140731 Q9BZ19 ABBA01005981;AL354776;AMYH02037361;CH471077;XM_006710087;XM_006723895;XM_006726793 EAW75502;Q9BZ19;XP_006710150;XP_006723958;XP_006726856 1683499 RH45766 C20orf86;bA196N14.3 OTTHUMP00000031385;ankyrin repeat domain-containing protein 60;chromosome 20 open reading frame 86 protein-coding HGNC:16217 12788 MODEL 7111868 ANKRD61 ankyrin repeat domain 61 7 7 p22 6071007 6076183 + 6031376 6036552 + 12853948 100310846 A6NGH8 ABBA01029368;AC005995;AI221268;AMYH02015164;NM_001271700 A6NGH8;NP_001258629 Hs.744468 ankyrin repeat domain-containing protein 61 protein-coding ENSG00000157999 HGNC:22467 INFERRED 5508531 ANKRD65 ankyrin repeat domain 65 INTERACTS WITH aflatoxin B1; benzo[a]pyrene; indole-3-methanol (ortholog) 1 1 1 p36.33 1224608 1227458 + 1353800 1356824 - 1418420 1421444 - 6480464 11181995;12477932;2302192;24163370 441869 E5RJM6 ABBA01016038;ABBA01016039;AI094806;AI522076;AL391244;AMYH02000097;BC018095;BC063445;BC073150;BC094869;CH471183;M32220;NM_001145210;NM_001243535;NM_001243536;XM_005244752;XM_006710647 ACE86612;ACE87293;E5RJM6;EAW56204;EAW56205;NP_001138682;NP_001230464;NP_001230465;XP_005244809;XP_006710710 Hs.381222 ankyrin repeat domain-containing protein 65;hypothetical protein LOC441869;uncharacterized protein LOC441869 protein-coding ENSG00000235098 HGNC:42950 VALIDATED 7204990 ANKRD66 ankyrin repeat domain 66 6 6 6 p12.3 48267156 48279399 + 46714654 46726955 + 46746917 46759218 + 8889548 100287718 B4E2M5;H3BTF0 ABBA01050614;AK304342;AL161618;AL451143;AMYH02013688;BU608132;DC417416;NM_001162435 B4E2M5;BAG65187;NP_001155907 Hs.736491 ankyrin repeat domain-containing protein 66;hypothetical protein LOC100287718 protein-coding HGNC:44669 VALIDATED 1317569 ANKRD6 ankyrin repeat domain 6 INVOLVED IN negative regulation of canonical Wnt signaling pathway (inferred); positive regulation of Wnt signaling pathway, planar cell polarity pathway (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene; tert-butyl hydroperoxide; trichostatin A 6 6 6 q14.2-q16.1 90561418 90762379 + 90142897 90343553 + 89433178 89633834 + 6480464 10231032;12183362;12203740;12477932;14574404;14702039;17370265;17592114;18187620;19379695;19591803;20736409;21810271;22580979;23934736;8889548 22881 B7Z3D2;E5RH98;E5RIJ4;E5RIN9;E5RIS1;E5RJ05;E5RJ45;E5RJR9;H0YBG4;H0YBH4;H0YBW6;Q9Y2G4 AB023174;ABBA01040530;ABBA01040531;ABBA01040532;ABBA01040533;AK021550;AK022699;AK074189;AK092235;AK096867;AK295731;AK307792;AL096678;AL117504;AL136971;AL138717;AL159174;AMYH02014083;AMYH02014084;AMYH02014085;AMYH02014086;BC001078;BC042173;BM974140;CH471051;DC317010;DN999929;GU727626;NM_001242809;NM_001242811;NM_001242813;NM_001242814;NM_014942;XM_005248679;XM_005248680;XM_005248681;XM_005248682;XM_005248683;XM_005248684;XM_006715381;XM_006715382 AAH01078;AAH42173;ADU87628;BAA76801;BAG52502;BAG53385;BAH12168;CAB55968;EAW48550;EAW48551;EAW48552;EAW48553;NP_001229738;NP_001229740;NP_001229742;NP_001229743;NP_055757;Q9Y2G4;XP_005248736;XP_005248737;XP_005248738;XP_005248739;XP_005248740;XP_005248741;XP_006715444;XP_006715445 Hs.702213 1660803;1669043;1670718;1673271;1674763;1682395;1694544;1700988;1710704;1720013;1853622;2124222;2132657;2164580 A007K15;D6S1132E;D6S2078;D6S2196;G43165;RH104121;RH123984;RH46665;RH46749;RH46755;SHGC-79641;STS-AA025624;STS-N40186;WI-13908 FLJ12637;FLJ34916 OTTHUMP00000016855;OTTHUMP00000016856;OTTHUMP00000225479;OTTHUMP00000225480;OTTHUMP00000225481;ankyrin repeat domain-containing protein 6;diversin protein-coding ENSG00000135299 HGNC:17280 09798 610583 VALIDATED 1353885 ANKRD62P1-PARP4P3 ANKRD62P1-PARP4P3 readthrough, transcribed pseudogene 22 22 22 q11.1 756842 780228 - 17134598 17156430 - 16653708 16675540 - 10591208;16461635;18701435;20218899;20496165;20574454 23783 ABBA01001463;ABBA01001464;AMYH02037980;AMYH02037981;AP000365;DN918251;DV080440;NR_040115 Hs.627452 ADPRTL4;PARP4P3 APPROVED pseudo HGNC:42393 VALIDATED 5132170 ANKRD63 ankyrin repeat domain 63 15 15 15 q15.1 17339637 17340779 - 40573645 40574787 - 40281444 40282586 - 100131244 C9JTQ0 ABBA01038455;AC020658;AMYH02030235;BF940541;NM_001190479 C9JTQ0;NP_001177408 Hs.711376 ankyrin repeat domain-containing protein 63 protein-coding ENSG00000230778 HGNC:40027 PROVISIONAL 1316983 ANKRD9 ankyrin repeat domain 9 INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q32.31 83027430 83030360 - 102973179 102976128 - 102506842 102509791 - 6480464 12477932;12508121;15489334;18187620 122416 H0YM08;H0YNN1;Q96BM1 ABBA01048474;ABBA01048475;AK291868;AL136293;AMYH02029900;BC015422;BC027479;BX161460;CH471061;NM_152326;XM_005267310;XM_005267311 AAH15422;AAH27479;ABM82613;ABM85797;BAF84557;CAD61921;EAW81791;EAW81792;NP_689539;Q96BM1;XP_005267367;XP_005267368 Hs.432945 1671983;2117256;2135190;2138959;2156786;2175544;5019819 A003P27;A004S19;A009Y10;Bdab1d07;G27983;G32972;RH15690 MGC21990 OTTHUMP00000246829;ankyrin repeat domain-containing protein 9 protein-coding ENSG00000156381 HGNC:20096 12467 PROVISIONAL 1352130 ANKRD7 ankyrin repeat domain 7 INVOLVED IN male gonad development (inferred); FOUND IN nucleus (inferred); INTERACTS WITH fonofos; parathion; terbufos 7 7 7 q31 112674150 112692226 + 117864493 117882785 + 118224658 118242731 + 1580863;6480464 12477932;12853948;15342556;15489334;16169070;22613542;8812458;9847074 56311 C9J2M7;C9JIJ7;Q92527 AA435914;ABBA01057789;ABBA01057790;AC004029;AC006389;AC007874;AI126287;AI149744;AK302407;AMYH02016642;AMYH02016643;AMYH02016644;BC007020;BC032799;BP369869;CH236947;CH471070;D78334;DB442002;DB447815;NM_019644 AAB97503;AAF19231;AAH07020;AAH32799;BAA11348;BAG63717;EAW83538;EAW83539;NP_062618;Q92527 Hs.729340 2162142 AFMa073zb9 TSA806 OTTHUMP00000211148;OTTHUMP00000211149;OTTHUMP00000211150;ankyrin repeat domain-containing protein 7;testis-specific ankyrin motif containing protein;testis-specific protein TSA806 protein-coding ENSG00000106013 HGNC:18588 610731 VALIDATED 1602104 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 12 q23.1 98793966 100043704 - 99128569 100378512 - 98734791 99984735 - 6480464;8554872 10490826;12415113;12477932;12508107;12700034;12837293;15004329;15342556;15347684;15862129;16273093;16344560;16386788;16537434;16769578;17875921;19666031;19721433;19851462;19913121;20100865;20161521;20205790;20379614;20578947;20628086;20966902;21107309;21832049;22959728;23251661;23319000;23453885;23799029;24479813;24816145 56899 B1VKB5;B7Z9I9;F8VR14;F8VVQ4;H0YI72;H0YJZ1;J3QSU0;Q6V0K8;Q7Z6G8;R4GMN5;R4GMQ4;R4GMS8;R4GN07;R4GN70;R4GN73;R4GN78;R4GNJ0 ABBA01053268;ABBA01053269;ABBA01053270;ABBA01053271;ABBA01053272;ABBA01053273;ABBA01053274;ABBA01053275;ABBA01053276;ABBA01053277;ABBA01053278;ABBA01053279;ABBA01053280;ABBA01053281;AC008126;AC011248;AC021653;AC048330;AC069437;AC078916;AC079954;AC084374;AC117377;AC126616;AC141554;AC141555;AC141556;AF145204;AF164792;AK124453;AK289768;AK294191;AK294994;AK295988;AK315954;AM980945;AMYH02027041;AMYH02027042;AMYH02027043;AMYH02027044;AMYH02027045;AMYH02027046;AMYH02027047;AMYH02027048;AMYH02027049;AMYH02027050;AY281131;AY281132;AY283057;AY356353;AY620824;AY753193;BC026313;BC068451;BC091512;BC142669;BC150204;BG338019;BP193713;BQ614098;BU568171;D80328;DA183756;DA690060;DA783474;DB475766;KF455700;NG_029860;NM_001204065;NM_001204066;NM_001204067;NM_001204068;NM_001204069;NM_001204070;NM_001204079;NM_001204080;NM_001204081;NM_020140;NM_152788;NM_181670;XM_005269028;XM_005269029;XM_005269032;XM_006719504;XM_006719505;XM_006719506;XM_006719507;XM_006719508;XM_006719509;XM_006719510;XM_006719511;XM_006719512;XM_006719513;XM_006719514;XM_006719515 AAD33951;AAF80756;AAH26313;AAH68451;AAI42670;AAI50205;AAI60005;AAP37612;AAP37613;AAP38184;AAQ56189;AAT39519;AAV28691;BAF82457;BAG57507;BAG58059;BAG58763;BAH14325;CAQ37746;NP_001190994;NP_001190995;NP_001190996;NP_001190997;NP_001190998;NP_001190999;NP_001191008;NP_001191009;NP_001191010;NP_064525;NP_690001;NP_858056;Q7Z6G8;XP_005269085;XP_005269086;XP_005269089;XP_006719567;XP_006719568;XP_006719569;XP_006719570;XP_006719571;XP_006719572;XP_006719573;XP_006719574;XP_006719575;XP_006719576;XP_006719577;XP_006719578 Hs.506458 1337135;1338191;1339926;1341845;1649052;1651345;1652104;1665911;1704332;1714549;1722867;1732705;1736260;1739131;1761105;1774124;2106951;2125687;2125689;2128287;2129565;2144268;2157925;2175223;2187253;5092004;5095038;7183696 APAF1_7746;D12S1058;D12S1059;D12S1082;D12S1098;D12S1099;D12S1100;D12S1218E;D12S1355;D12S1600;D12S346;D12S58;D12S836;D5S1886;G17651;G60526;RH119788;RH46329;RH47349;RH47351;RH69665;SHGC-145114;SHGC-78121;SHGC-78132;STS-D51799;TKY831;WI-21542 AIDA;AIDA-1;ANKS2;EB-1;EB1;MGC26087;cajalin-2 E2a-Pbx1-associated protein;OTTHUMP00000243457;OTTHUMP00000243458;OTTHUMP00000243459;OTTHUMP00000243460;OTTHUMP00000243461;OTTHUMP00000243462;OTTHUMP00000243463;OTTHUMP00000243464;OTTHUMP00000243466;OTTHUMP00000243467;OTTHUMP00000243468;amyloid-beta precursor protein intracellular domain associated protein 1;amyloid-beta protein intracellular domain-associated protein 1;ankyrin repeat and sterile alpha motif domain-containing protein 1B;cajalin 2 APPROVED protein-coding ENSG00000185046 HGNC:24600 07426 607815 REVIEWED 1348688 ANKUB1 ankyrin repeat and ubiquitin domain containing 1 3 3 3 q25.1 147892237 147923960 - 149478887 149510610 - 149761100 149792823 - 12477932;14702039;8889548 389161 A6NFN9;B4E2N8;C9JND2;E9PHT4 ABBA01058939;AC069216;AK027233;AK098078;AK304359;AMYH02007886;BC171805;BU686654;NM_001144960 A6NFN9;BAG53578;BAG65200;NP_001138432 Hs.665988 1715549;2175886 D3S2401;RH120916 C3orf16;FLJ40759 OTTHUMP00000216004;ankyrin repeat and ubiquitin domain-containing 1;hypothetical protein LOC389161 APPROVED protein-coding ENSG00000206199 HGNC:29642 PROVISIONAL 1319381 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A ENCODES a protein that exhibits ephrin receptor binding (inferred); INVOLVED IN ephrin receptor signaling pathway (ortholog); neuron remodeling (ortholog); substrate-dependent cell migration (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; nucleus; neuron projection (ortholog); INTERACTS WITH 2-methylcholine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 6 6 6 p21.31 36411475 36613603 + 34857038 35085802 + 34889261 35091413 + 6480464;8554872 10958799;12439753;12477932;14574404;15302935;15324660;15345747;15489334;15500253;15778465;16273093;17353931;17452356;18029348;18391951;19913121;20100865;20379614;20546612;20628086;20659327;21378990;21529783;22291991;22332920;22863883;23144319;23239578;23251661;23563607;23740937;23824909;23825523;24255178;24262325;24816145;8889548;9039502 23294 Q05CP0;Q92625 ABBA01038214;ABBA01038215;ABBA01038216;ABBA01038217;ABBA01038218;AK025381;AK298987;AL033520;AL138721;AL591002;AMYH02013530;AMYH02013531;AMYH02013532;AMYH02013533;BC022396;BC031934;BC049213;BC132832;BC144341;BF592042;BQ216321;BU676295;BX094969;CH471081;D86982;EF491787;NM_015245;XM_005248964;XM_006715033;XM_006715034;XM_006715035;XM_006715036;XM_006715037;XM_006715038 AAH22396;AAH31934;AAI32833;BAA13218;BAG61080;EAX03800;EAX03801;EAX03802;EAX03803;EAX03804;NP_056060;Q92625;XP_005249021;XP_006715096;XP_006715097;XP_006715098;XP_006715099;XP_006715100;XP_006715101 Hs.656492 1644953;1651165;1680811;1724585;1774793;1858319;2118283;2166924;2181903;2183616;2191307 MARC_17239-17240:1023900206:1;RH121289;RH25435;RH36210;RH36455;RH40967;RH45580;SHGC-34024;STS-N22435;STS-R07970;WIAF-1586 ANKS1;KIAA0229;MGC42354;Odin OTTHUMP00000016243;ankyrin repeat and SAM domain containing 1;ankyrin repeat and SAM domain-containing protein 1A protein-coding ENSG00000064999 HGNC:20961 10610 608994 VALIDATED 1604545 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 INTERACTS WITH atrazine; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 4955291 4992944 - 4746500 4784378 - 4696510 4734377 - 6480464 11853319;12477932;14702039;16713569;16964243;17081983 124401 D3DUE4;K7EJS9;K7EJX3;K7EJY2;K7EKD2;K7ELP3;K7ELU8;K7EM53;K7EPL7;K7EPP4;K7EPY5;K7EQE0;K7ERF3;K7ERR7;K7ERY3;Q6ZW76;Q6ZWA7 AB075857;ABBA01026783;ABBA01026784;AC020663;AC023830;AI560632;AK056907;AK057329;AK123371;AK123496;AK301683;AMYH02031327;AMYH02031328;BC031350;BC032314;BC050387;BM545219;BX333650;CH471112;DR004376;NM_001242929;NM_133450;NR_040252;XM_005255119;XM_005255121;XM_006720845 AAH50387;BAB85563;BAC85597;BAC85629;BAG51903;BAG63156;EAW85269;EAW85270;EAW85271;EAW85272;EAW85273;EAW85274;EAW85275;NP_001229858;NP_597707;Q6ZW76;XP_005255176;XP_005255178;XP_006720908 Hs.654859 5037552 D8S2279 FLJ32345;FLJ32767;KIAA1977 OTTHUMP00000159853;ankyrin repeat and SAM domain-containing protein 3 protein-coding ENSG00000168096 HGNC:29422 13909 VALIDATED 6481331 ANO1-AS1 ANO1 antisense RNA 1 100873981 AP000879 APPROVED ncrna HGNC:40016 1319654 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 ENCODES a protein that exhibits protein homodimerization activity (inferred); ASSOCIATED WITH Aortic valve stenosis (inferred); Autosomal recessive inheritance (inferred); Cholestasis (inferred); FOUND IN cilium (inferred); cytoplasm (inferred); INTERACTS WITH all-trans-retinoic acid; copper atom; copper(0) 9 9 9 q22.33 72008186 72066777 - 101494291 101558794 - 98732009 98796512 - 6480464;8699517;7240710;8554872 12477932;14702039;15164053;15489334;18029348;18434273;18978678;20301743;21832049;23793029 203286 B3KXP1;H7C163;Q68DC2 ABBA01042909;ABBA01042910;ABBA01042911;AK074328;AK094247;AK126614;AK127702;AL353782;AL807776;AMYH02021326;BC012981;BC064367;CH471105;CR749467;CR749472;DQ309777;DQ309778;DQ309779;DQ309780;DQ309781;DQ309782;DQ309783;DQ309784;DQ309785;DQ309786;DQ309787;DQ309788;DQ309789;DQ309790;DQ309791;NM_173551;XM_005251793;XM_005251794;XM_006716998;XM_006716999;XR_242576;XR_428520 AAH64367;ABC48694;BAC04317;BAG54553;CAH18298;CAH18302;EAW58892;EAW58893;EAW58894;EAW58895;NP_775822;Q68DC2;XP_005251850;XP_005251851;XP_006717061;XP_006717062 Hs.406890 1664012;2114056;2127692;2162649 AB046634;D9S2093;RH15962;SHGC-4650 ANKRD14;DKFZp686D24121;DKFZp781I0117;MGC70366;NPHP16;PKDR1;SAMD6 OTTHUMP00000021780;OTTHUMP00000179114;SAM domain-containing protein 6;ankyrin repeat and SAM domain-containing protein 6;ankyrin repeat domain 14;ankyrin repeat domain-containing protein 14;samCystin;sterile alpha motif domain containing 6;sterile alpha motif domain-containing protein 6 protein-coding ENSG00000165138 HGNC:26724 18012 615370;615382 PROVISIONAL 1321890 ANO1 anoctamin 1, calcium activated chloride channel ENCODES a protein that exhibits calcium activated cation channel activity; intracellular calcium activated chloride channel activity; INVOLVED IN cation transmembrane transport; cation transport; chloride transport; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; plasma membrane; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; arsane 11 11 11 q13.3 67191110 67302276 + 69924408 70035651 + 69985875 70189545 + 737633;6480464;8554872 12477932 12739008;14702039;15067359;18648740;18724360;18772398;19011564;19015192;19199708;19372102;19606013;19654323;19687122;19773279;19819874;19823864;19913121;20628086;20716167;20716168;21041307;21084298;21092923;21295818;21349842;21350101;21358619;21585622;21645494;21756825;21906983;21940901;21965629;22178883;22197035;22335248;22351639;22399613;22415075;22460810;22495382;22526416;22564524;22571292;22685202;22699056;22912841;22946562;22946960;22973054;22988141;23034390;23038686;23104560;23218903;23431153;23570556;23576565;23576756;23722018;23862765;23866066;23994600;23997176;24080196;24167264;24243583;24379641;24401903;24478309;24509911;24599954;24692353;24825187 55107 E9PNA7;E9PP68;E9PS90;H0YDD9;Q5XXA6;Q9NW72 AB845669;ABBA01010299;ABBA01010300;AI694083;AK001123;AK097619;AK293088;AK303971;AL833582;AMYH02025045;AMYH02025046;AP000879;AP003555;AY728143;BC027590;BC033036;CF593428;CH471076;DB445158;DB450993;HQ418153;NM_018043;NR_030691;XM_006718593;XM_006718594;XM_006718595;XM_006718596;XM_006718597;XM_006718598;XM_006718599;XM_006718600;XM_006718601;XM_006718602;XM_006718603;XM_006718604;XM_006718605 AAH27590;AAH33036;AAU82085;ADP09411;BAA91513;BAC05123;BAF85777;BAH14087;BAO49755;EAW74757;EAW74758;EAW74759;NP_060513;Q5XXA6;XP_006718656;XP_006718657;XP_006718658;XP_006718659;XP_006718660;XP_006718661;XP_006718662;XP_006718663;XP_006718664;XP_006718665;XP_006718666;XP_006718667;XP_006718668 Hs.503074 1681572;2109975;2166265 RH48109;RH92087;TMEM16A_9873 DOG1;FLJ10261;ORAOV2;TAOS2;TMEM16A Ca2+-activated Cl- channel;OTTHUMP00000235453;OTTHUMP00000235456;OTTHUMP00000235457;anoctamin-1;discovered on gastrointestinal stromal tumors protein 1;oral cancer overexpressed 2;oral cancer overexpressed protein 2;transmembrane protein 16A (eight membrane-spanning domains);tumor amplified and overexpressed sequence 2;tumor-amplified and overexpressed sequence 2 protein-coding ENSG00000131620 HGNC:21625 18202 610108 VALIDATED 1606413 ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B INVOLVED IN response to endoplasmic reticulum stress (inferred); FOUND IN endoplasmic reticulum membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; quercetin 16 16 16 p12.2 20559328 20578058 + 21245016 21263750 + 21233695 21252429 + 6480464 12477932;12588794;14702039;15461667;21832049 257629 Q8N8V4 ABBA01028294;AF001550;AK096138;AMYH02031676;BC111784;BC112368;CH471228;NM_145865 AAI60087;BAC04707;EAW66861;NP_665872;Q8N8V4 Hs.115959 1738683;5015861;7185938 D10S16;D16S2797 FLJ38819;HARP;MGC133380;MGC133381 ankyrin repeat and SAM domain-containing protein 4B;harmonin-interacting ankyrin repeat-containing protein;harmonin-interacting ankyrin-repeat containing protein protein-coding HGNC:26795 08794 609901 VALIDATED 1602704 ANKZF1 ankyrin repeat and zinc finger domain containing 1 ENCODES a protein that exhibits metal ion binding (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cobalt dichloride; copper(2+) sulfate 2 2 2 q35 213864186 213871098 + 220094479 220101391 + 219229757 219236669 + 6480464 12477932;14702039;15489334;16169070;16344560;16964243;17081983;19946888;20211142;21832049;21896481;21900206;21914798;8125298 55139 B8ZZS4;C9J5H7;C9JQZ3;C9JS61;C9K022;F8WD44;Q9H8Y5 AA482007;ABBA01023845;ABBA01023846;AC068946;AF364318;AK001277;AK023206;AK056060;AK095304;AK098282;AK225275;AK225309;AK303077;AK303537;AMYH02005819;BC000238;BC008948;BC028334;CH471063;DA226194;DA899467;DQ412564;NM_001042410;NM_001282792;NM_018089;XM_005246663;XR_427096;XR_427097 AAH00238;AAH08948;ABD65410;BAA91596;BAB14462;BAG64193;BAG64563;EAW70708;EAW70709;EAW70710;NP_001035869;NP_001269721;NP_060559;Q9H8Y5;XP_005246720 Hs.437647 1655278;1663635;2142422;2183384;5015619;5016478;5022200;5037552 D11S3114;D2S1807;D8S2279;GDB:434012;L18426;RH12093;SHGC-32531;WI-15771 FLJ10415;FLJ13144;ZNF744 OTTHUMP00000205941;OTTHUMP00000205942;OTTHUMP00000205943;ankyrin repeat and zinc finger domain-containing protein 1;zinc finger protein 744 protein-coding ENSG00000163516 HGNC:25527 07673 VALIDATED 1605667 ANO10 anoctamin 10 The transmembrane protein encoded by this gene is a member of a family of calcium-activated chloride channels. Defects in this gene may be a cause of autosomal recessive spinocerebellar ataxia-10. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 3 3 3 p22.1 43345314 43601240 - 43407818 43663560 - 43366326 43622068 - 6480464;8699517;8554872;7240710 12477932;14702039;19015192;19946888;21890473;21906983;21963094;21987572;22008874;22527681;23251661;24275721;24692353 55129 C9IYD3;C9IZD0;C9J670;C9JA49;C9JH90;C9JJS5;C9JPY2;C9JQC9;H7C3N6;Q9NW15 AA252209;ABBA01024758;ABBA01024759;AC097638;AC104184;AC105903;AC135852;AK096302;AK131223;AK292368;AK295969;AK297949;AL832508;AMYH02006634;AMYH02006635;AMYH02006636;AMYH02006637;AMYH02006638;AMYH02006639;AMYH02006640;BC038855;CH471055;NG_028216;NM_001204831;NM_001204832;NM_001204833;NM_001204834;NM_018075;XM_005265265 AAI56279;AAI57062;BAF85057;BAG53253;BAG54755;BAG58745;BAG60264;EAW64695;EAW64696;EAW64697;EAW64698;NP_001191760;NP_001191761;NP_001191762;NP_001191763;NP_060545;Q9NW15;XP_005265322 Hs.656657 1336139;1342348;1661414;1707298;1712727;1716951;1739763;1759739;1777274;2147712 D3S3475E;D3S3647;D3S3678;HSC12B032;RH121060;RH121855;SHGC-150987;SHGC-76857;SHGC-79253;STS-R48504 FLJ10375;MGC47890;SCAR10;TMEM16K OTTHUMP00000164038;OTTHUMP00000164039;OTTHUMP00000209958;OTTHUMP00000209959;OTTHUMP00000209960;anoctamin-10;transmembrane protein 16K APPROVED protein-coding ENSG00000160746 HGNC:25519 07667 613726;613728 REVIEWED 1352763 ANO2 anoctamin 2, calcium activated chloride channel ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011] 12 12 12 p13.3 7292577 7675047 - 5671817 6055398 - 5562651 5946232 - 1580863;6480464;8554872 12739008;14702039;15067359;16344560;17371490;18029348;19015192;19165232;19474308;19561302;20379614;21697133;21906983;23251661;23382691;23570556;24692353;8889548 57101 F1T0L7;F5GXT3;F5H806;Q9NQ90 AB593159;ABBA01017624;ABBA01017625;ABBA01017626;ABBA01017627;AC006431;AC006560;AC137627;AJ272204;AK024010;AL137419;AMYH02025937;AMYH02025938;AMYH02025939;BE645295;BM710588;BQ025064;CH471116;DB071682;FJ384095;NG_033827;NM_001278596;NM_001278597;XM_006718988;XM_006718989;XM_006718990;XM_006718991 AAI52769;ACL36050;BAB14773;BAJ84091;CAC01125;CAH10704;EAW88819;EAW88820;EAW88821;NP_001265525;NP_001265526;Q9NQ90;XP_006719051;XP_006719052;XP_006719053;XP_006719054 Hs.148970 1335356;1335608;1656729;1672953;1705088;1705516;1707608;1711386;1722751;1736856;1736872;1777959;1782542;2123202;2131735;2140767;2176876;2179628;2218838;5014053;5107135;5109549 AFMb052yg5;D12S1262;D12S1265;D12S1673;D12S374;D1S3693;D21S1698;G41269;G41792;G42175;G60314;G65694;RH47566;RH66488;SHGC-10475;SHGC-10476;SHGC-106968;SHGC-31150;SHGC-78069;SHGC-83855;SHGC-84619;TMEM16B__5279 C12orf3;DKFZp434P102;TMEM16B OTTHUMP00000238430;anoctamin-2;transmembrane protein 16B (eight membrane-spanning domains) APPROVED protein-coding ENSG00000047617 HGNC:1183 11634 610109 VALIDATED 1320339 ANLN anillin, actin binding protein This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] 7 7 7 p15-p14 36413989 36477971 + 36429415 36493400 + 36389806 36453791 + 1580863;6480464;8554872 10931866;12477932;12479805;12637748;14702039;15302935;15489334;15496454;15616196;15635413;15800069;16040610;16129829;16203764;16357138;16964243;17081983;17643375;18158243;19531213;19596686;19995712;20360068;21109967;21139048;21849473;22412018;22423143;22514687;22939629;23547718;23708000;23717429;24088567;24250222;24676636;24809965;24816145;25223638 54443 A8K5D9;C9J0G4;C9JJT6;H7C0Y6;H7C167;H7C1C2;H7C1K5;H7C3R2;H7C3S1;Q9NQW6 ABBA01056905;AC006960;AF273437;AK001468;AK001472;AK023208;AK094574;AK291254;AK299803;AMYH02015527;AMYH02015528;AMYH02015529;BC034692;BC070066;BE885510;BQ434804;BU630923;CH236951;CH471073;CR936650;CS401486;NM_001284301;NM_001284302;NM_018685;XM_006715746;XM_006715747 AAF75796;AAH34692;AAH70066;BAA91710;BAA91711;BAB14463;BAF83943;BAG61678;CAI56788;CAL40337;EAW94067;EAW94068;EAW94069;EAW94070;EAW94071;EAW94072;NP_001271230;NP_001271231;NP_061155;Q9NQW6;XP_006715809;XP_006715810 Hs.62180 1657004;1675931;1688887;1707808;1775133;2167894;2186918;5022681 ANLN;GDB:1317748;GDB:1318228;RH80333;RH91404;SHGC-36429;SHGC-82130;WI-15514 DKFZp779A055;FSFS8;FSGS8;Scraps;scra OTTHUMP00000126965;OTTHUMP00000206987;actin-binding protein anillin protein-coding ENSG00000011426 HGNC:14082 09799 616027;616032 REVIEWED 3436177 ANO1-AS2 ANO1 antisense RNA 2 (head to head) 11 11 11 q13.3 67185224 67188225 - 69918540 69921701 - 70072434 70075348 - 100009613 ABBA01010299;AMYH02025045;AP003555;AW592641;EF419887;HG503934;HG503935;HY053628;NR_103835 Hs.131238;Hs.743025 C11orf78;NCRNA00224;RP11-626H12.4 APPROVED ncrna HGNC:33275 VALIDATED 1342534 ANO5 anoctamin 5 This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] 11 11 11 p14.3 22346769 22437966 + 22214199 22304913 + 22192667 22283367 + 6480464;7240710;8554872;8699517 14702039;15067359;15124103;15457408;17008331;19015192;20096397;20301582;20692837;21186264;21906983;22336395;22402862;22499103;22742934;22980764;23041008;23047743;23055322;23193613;23453885;23606453;23607914;23663589;23670307;23843187;24232312;24639367;24692353;8889548 203859 Q75V66 AB125267;ABBA01061015;AC104009;AC107886;AK092680;AK125046;AL832374;AL833271;AMYH02024429;BU742779;CH471064;N89918;NG_015844;NM_001142649;NM_213599;XM_005252820;XM_005252821;XM_005252822;XM_005252823 AAI56326;AAI72489;BAD17859;EAW68325;NP_001136121;NP_998764;Q75V66;XP_005252877;XP_005252878;XP_005252879;XP_005252880 Hs.154329 1676314;1697114;1749229;1856446;2143812 D11S1120;RH102041;RH66694;RH91889;SHGC-110910 GDD1;LGMD2L;TMEM16E OTTHUMP00000231795;anoctamin-5;gnathodiaphyseal dysplasia 1 protein;integral membrane protein GDD1;limb girdle muscular dystrophy 2L (autosomal recessive);transmembrane protein 16E APPROVED protein-coding ENSG00000171714 HGNC:27337 10558 166260;608662;611307;613319 REVIEWED 1318896 ANO3 anoctamin 3 ENCODES a protein that exhibits phospholipid scramblase activity (inferred); INVOLVED IN calcium activated galactosylceramide scrambling (inferred); calcium activated phosphatidylcholine scrambling (inferred); ion transmembrane transport (inferred); ASSOCIATED WITH Autosomal dominant inheritance (inferred); Blepharospasm (inferred); DYSTONIA 24 (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; daunorubicin 11 11 11 p14.2 26498680 26830111 + 26210458 26684836 + 26332131 26663289 + 1580863;6480464;8699517;7240710;8554872 12739008;15067359;16344560;19015192;19553259;20379614;22657408;23200863;24094724;24151159;24692353 63982 B7Z3F5;E9PKW2;E9PQ79;Q9BYT9 ABBA01060980;ABBA01060981;ABBA01060982;AC021698;AC036114;AC079064;AC083755;AJ300461;AK295143;AK295658;AK295816;AK302659;AK304781;AK316018;AMYH02024490;AMYH02024491;AMYH02024492;AMYH02024493;AMYH02024494;AMYH02024495;AMYH02024496;AMYH02024497;BQ430769;CH471064;DA247850;NM_031418;X81896 AAI72396;BAH11989;BAH12144;BAH12191;BAH13772;BAH14255;BAH14389;CAC32454;EAW68296;NP_113606;Q9BYT9 Hs.91791 1340365;1660766;1668872;1697210;1701100;1720019;1721669;1721747;1732169;1737125;1755633;1769744;1772162;1772958;2113970;2127562;2133135;2141072;2142451;2166356;2167132;2171297;2178114;2218840;7186472 A004R23;AB048919;D11S1568;D11S2279E;D11S2364;D11S2373;D11S2949;D11S3990;D11S4348;D11S904;G02339;G30236;G59741;G59845;RH102097;RH104178;RH123987;RH16157;RH16467;RH35938;RH78143;SGC34286;SHGC-142486;TMEM16C__5280 C11orf25;DYT23;DYT24;GENX-3947;TMEM16C OTTHUMP00000231884;OTTHUMP00000231886;OTTHUMP00000232233;anoctamin-3;transmembrane protein 16C (eight membrane-spanning domains) protein-coding ENSG00000134343 HGNC:14004 15526 610110;615034 VALIDATED 1321043 ANO4 anoctamin 4 ENCODES a protein that exhibits intracellular calcium activated chloride channel activity; INVOLVED IN chloride transmembrane transport; chloride transport; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN plasma membrane; intracellular (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); benzo[a]pyrene diol epoxide I 12 12 12 q23.1 100853681 101187742 + 101133841 101522419 + 100794596 101128641 + 6480464;8554872 12477932;12739008;14702039;15067359;16344560;19015192;23535033;24692353 121601 B7Z9Z0;F8VUH1;F8VW62;Q32M45 ABBA01053247;ABBA01053248;ABBA01053249;AC063947;AC079953;AC125628;AC127893;AC138360;AC225709;AI140598;AK091540;AK091591;AK092596;AK293810;AK302962;AK316105;AMYH02027061;AMYH02027062;AMYH02027063;AMYH02027064;AMYH02027065;BC109308;CH471054;DA213819;DA811418;DC325277;KF570266;NM_001286615;NM_001286616;NM_178826;XM_006719240 AAI09309;BAC03688;BAC03704;BAC03924;BAH11602;BAH13859;BAH14476;EAW97645;EAW97646;EAW97647;NP_001273544;NP_001273545;NP_849148;Q32M45;XP_006719303 Hs.58785 1338184;1682455;1752941;1768399;1773288;1779564;1853232;2115749;2159218;2174969;2179929;5017493 D12S1041;D12S1083;D12S1101;D12S1835;G17618;RH99125;SHGC-106784;SHGC-153536;SHGC-33403;SHGC-64282;TKY933;WI-15132 FLJ34221;FLJ34272;FLJ35277;MGC130026;TMEM16D OTTHUMP00000243883;OTTHUMP00000243884;anoctamin-4;transmembrane protein 16D protein-coding ENSG00000151572 HGNC:23837 15527 610111 VALIDATED 1602957 ANO7P1 anoctamin 7 pseudogene 1 1 1 1 p36.13 15022766 15034829 - 16551343 16553528 - 16218417 16227033 - 101927546 AL109627;AMYH02000379;HY036626;XM_006711098;XM_006726335 XP_006711161;XP_006726398 Hs.742924 1855472;1855474;2112364 D1S3633;SHGC-74265;WI-14689 ANO7L1;C1orf224;FLJ33962;TMEM16M anoctamin 7-like 1;anoctamin-4-like;chromosome 1 open reading frame 224;transmembrane protein 16M APPROVED protein-coding HGNC:32248 MODEL 1312398 ANO6 anoctamin 6 This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 12 12 12 q12 44413462 44637876 + 45609770 45834187 + 45215987 45440404 + 6480464;7240710;8699517;8554872 12477932;14702039;15067359;15489334;19015192;19056867;19322201;19581412;19946888;20379614;21107324;21139048;21511967;21890473;21906983;21963094;22138694;22256604;23000965;23308121;23426967;23618909;24478309;24692353;24816145;7566098 196527 B3KX12;F8VX71;Q4KMQ2 AA332109;ABBA01031441;AC009248;AC009778;AC063924;AK095979;AK126409;AK302819;AK303996;AK310641;AL832340;AL833405;AMYH02026398;AMYH02026399;AMYH02026400;AMYH02026401;BC042383;BC063576;BC073891;BC098410;BC136445;NG_028220;NM_001025356;NM_001142678;NM_001142679;NM_001204803;XM_005268706;XM_005268707;XM_006719271 AAH98410;AAI36446;BAG54324;BAG64017;BAG64913;CAD38638;NP_001020527;NP_001136150;NP_001136151;NP_001191732;Q4KMQ2;XP_005268763;XP_005268764;XP_006719334 Hs.505339 1662702;1669180;1698346;1701350;1717841;1736190;1746765;1760085;1764465;1851414;5022200;5022578 D12S1135E;D12S1320;D1S1423;G64798;L18426;RH102714;RH104305;RH121832;SHGC-107762;SHGC-148070;SHGC-33633;STS-N36984 BDPLT7;MGC104751;SCTS;TMEM16F OTTHUMP00000241548;OTTHUMP00000241549;OTTHUMP00000241551;OTTHUMP00000241552;SCAN channel;anoctamin-6;small-conductance calcium-activated nonselective cation channel;transmembrane protein 16F APPROVED protein-coding ENSG00000177119 HGNC:25240 18746 262890;608663 REVIEWED 1342993 ANOP1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) ASSOCIATED WITH Microphthalmia, Syndromic 4 (inferred) 7240710 1679229 289 HGNC:498 301590 1351029 ANO7 anoctamin 7 This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011] 2 2 2 q37.3 235798107 235834087 + 242127924 242164791 + 241188509 241225376 + 1303974;6480464 14981236 10613842;12477932;14702039;15375614;15761874;18676855;19015192;19495750;23535732;23955683;24692353 50636 H7C220;Q6IWH7 ABBA01006040;ABBA01006041;ABBA01006042;ABBA01006043;AC005237;AC104841;AC111201;AK057322;AMYH02006110;AMYH02006111;AY617079;AY617080;BC028162;BC038852;BC047903;CD672346;KF456776;NG_029845;NM_001001666;NM_001001891;XM_006712558 AAH28162;AAI56325;AAI57070;AAT40139;AAT40140;NP_001001666;NP_001001891;Q6IWH7;XP_006712621 Hs.163909 1776448;1852973;2137759;2150981 G42012;G42022;RH68737;SHGC-35108 D-TMPP;DTMPP;IPCA-5;IPCA5;NGEP;PCANAP5;PCANAP5L;TMEM16G Dresden-transmembrane protein of the prostate;OTTHUMP00000200376;OTTHUMP00000200377;OTTHUMP00000200379;anoctamin-7;dresden transmembrane protein of the prostate;new gene expressed in prostate;prostate cancer associated protein 5;prostate cancer-associated gene 5;prostate cancer-associated protein 5;transmembrane protein 16G APPROVED protein-coding ENSG00000146205 HGNC:31677 16090 605096 REVIEWED 1345920 ANO9 anoctamin 9 ENCODES a protein that exhibits intracellular calcium activated chloride channel activity; INVOLVED IN chloride transmembrane transport; chloride transport; negative regulation of intracellular calcium activated chloride channel activity; FOUND IN plasma membrane; INTERACTS WITH acetylsalicylic acid; mono(2-ethylhexyl) phthalate (ortholog); progesterone (ortholog) 11 11 11 p15.5 476822 501215 - 417930 442011 - 417930 442011 - 6480464 12477932;14702039;15202010;16344560;19015192;20379614;22223854;24692353;9305847 338440 A1A5B4 ABBA01015182;ABBA01015183;ABBA01015184;AC138230;AI986229;AK026923;AK074088;AK096874;AK303642;AK316479;AL832289;AMYH02024139;AMYH02024140;BC047946;BC128557;BC144415;CH471158;CQ834410;CQ834594;DB140066;KC877377;NM_001012302;U33271;XM_005252886;XM_006718219;XM_006718220;XR_242799;XR_428842;XR_428843;XR_428844 A1A5B4;AAI28558;BAB84914;BAG53386;BAG64646;BAH14850;CAH05420;CAH05512;EAX02326;NP_001012302;XP_005252943;XP_006718282;XP_006718283 Hs.501622 PIG5;TMEM16J;TP53I5 OTTHUMP00000229781;anoctamin-9;p53-induced gene 5 protein;transmembrane protein 16J;tumor protein p53 inducible protein 5;tumor protein p53-inducible protein 5 protein-coding ENSG00000185101 HGNC:20679 18214 VALIDATED 1349559 ANO8 anoctamin 8 INVOLVED IN chloride transmembrane transport; chloride transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; INTERACTS WITH cytarabine 19 19 19 p13.11 17335762 17347370 - 17434032 17445638 - 17323223 17334829 - 6480464;8554872 10997877;12477932;15647853;16169070;19015192;24390342;24692353 57719 M0QYD2;Q9HCE9 AB046843;ABBA01051192;AC010463;AI860149;AMYH02035702;BC037307;CH471106;NM_020959 BAB13449;EAW84595;EAW84596;NP_066010;Q9HCE9 Hs.590990 1673784;1689245 RH93609;STS-W45157 KIAA1623;TMEM16H anoctamin-8;transmembrane protein 16H protein-coding ENSG00000074855 HGNC:29329 17223 610216 VALIDATED 5490864 ANP32AP1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 INTERACTS WITH cyclosporin A 15 15 15 q14 12288802 12289539 + 35529527 35530264 + 35237326 35238063 + 6480464 21906983 723972 Q1AHP8 ABBA01038506;AC107992;AMYH02030189;DQ083510;NR_003144 AAZ31261 Hs.631698 1684419;1688130 RH46906;RH70903 pseudo ENSG00000259516 HGNC:42949 PROVISIONAL 2947095 ANP32BP1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1 15 15 15 q24.2 52540558 52541291 - 75614117 75614850 - 75321776 75322509 - 646791 ABBA01060520;AC068338;AMYH02030813;NG_022900 1794340 PMC311040P1 pseudo HGNC:24267 INFERRED 1343834 ANP32A-IT1 ANP32A intronic transcript 1 (non-protein coding) INTERACTS WITH copper(2+) sulfate; valproic acid 15 15 15 q23 45985330 45988610 - 69096160 69099440 - 68803821 68807101 - 6480464 12477932;14702039 80035 ABBA01038773;AC087639;AK021784;AMYH02030692;BC132845;BC136847;CH471082;NR_026808 EAW77826 Hs.662150 5037552 D8S2279 C15orf28;FLJ11722;HsT18971;MGC168461;NCRNA00321 APPROVED ncrna HGNC:25672 VALIDATED 6484654 ANP32BP3 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 3 15 15 81409595 81410681 - 81117254 81118340 - 100652899 ABBA01060635;AC068870;AMYH02030893;NG_032808 pseudo HGNC:44089 INFERRED 731659 ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B ENCODES a protein that exhibits histone binding; RNA polymerase binding; INVOLVED IN activation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of cell differentiation; nucleosome assembly; FOUND IN cytoplasm; extracellular vesicular exosome; nucleolus; INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; busulfan 9 9 9 q22.32 71259753 71292490 + 100745479 100780860 + 97983207 98015943 + 1580863;6480464 11018049;11729309;12477932;12522243;15164053;15489334;15895553;16094384;16212417;17081983;17178712;17643375;18039846;19130553;19322201;19471022;19738201;20015864;20195357;20538007;21139048;21209461;21415862;21693764;21800051;21832049;21890473;21988832;22113938;22174317;22623428;22705300;22863883;23000965;23463506;23667531;8125298;9285060;9473664 10541 Q5T6W8;Q92688 ABBA01042921;ABBA01042922;ABBA01042923;AK223454;AK313733;AL354726;AMYH02021314;AMYH02021315;AW296974;BC013003;BC019658;BP395780;CH471105;NM_006401;U70439;Y07569;Y07570;Y07969 AAB37579;AAH13003;AAH19658;BAD97174;BAG36474;CAA68855;CAA68856;CAA69265;EAW58864;EAW58865;NP_006392;Q92688 Hs.730654 1794340;2151570;2218994 ANP32B__4313;PMC311040P1;RH70770 PHAPI2;SSP29 APRIL;OTTHUMP00000021759;OTTHUMP00000021760;acidic leucine-rich nuclear phosphoprotein 32 family member B;acidic protein rich in leucines;putative HLA-DR-associated protein I-2;silver-stainable protein SSP29 protein-coding ENSG00000136938 HGNC:16677 09803 VALIDATED 1352374 ANTP2 adenine nucleotide translocator pseudogene 2 (clone 7) 2157297 295 HGNC:508 1317675 ANP32C acidic (leucine-rich) nuclear phosphoprotein 32 family, member C Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is divergent between PP32 and the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008] 4 4 4 q32.3 162450710 162451414 - 165118159 165118863 - 164197007 164197711 - 6480464;8554872 10086381;10400610;10471270;11360199;11678310;12524539;15146458;15895553;22174317;23403278;24398589 23520 O43423 ABBA01070279;AC079240;AC105250;AF008216;AMYH02010424;CH471056;NM_012403 AAD12746;AAI72312;AAY40978;EAX04832;NP_036535;O43423 Hs.661161 PP32R1 acidic leucine-rich nuclear phosphoprotein 32 family member C;phosphoprotein 32-related protein 1;pp32 related 1;tumorigenic protein pp32r1 APPROVED protein-coding HGNC:16675 06045 606877 REVIEWED 2947013 ANP32BP2 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 2 22 22 22 q13.31 28959635 28960342 + 45047715 45048422 + 44651835 44652542 + 100130708 ABBA01017860;AMYH02038494;NG_022880;Z98743 1711792;2152101 AL008644;G49421 pseudo HGNC:38552 INFERRED 737099 ANPEP alanyl (membrane) aminopeptidase Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008] 15 15 15 q25-q26 66730914 66760859 - 90328126 90358119 - 89784895 89814879 - 1580863;1581742;1300048;1300284;6480464;6907045;8554872 1350662;15638741 10605003;10676659;10734069;11140838;11384645;11559807;11774469;11999577;12406907;12443882;12473585;12477932;12551991;12634402;12675232;14507917;14767532;15084671;15166647;15234325;15280478;15308636;15326289;15489334;15758076;15812828;15840518;15883031;15916720;16216591;16335952;16466852;16469741;16502470;16533817;16572171;16685268;1675638;16778789;16818694;1705556;17192395;17329256;17363734;17363739;17636545;17655775;17662271;17888402;17897319;17897790;17953966;17999179;18008160;18085638;18366676;18431797;18495788;18605079;18677709;18794057;19236378;19330903;19373777;19562339;19597336;1977688;19908113;20064928;20360068;20379614;20689807;21048031;21376765;21611838;21879266;21881118;22040956;22065384;22079983;22307972;22544935;22932899;23206754;23322201;23488598;23500679;23643324;23677132;24063007;2428842;24627994;2564851;2901990;2903074;6149934;7576235;7902291;8102610;8105105;8887485;9056417;9367365;9634079 290 H0YKT6;H0YLZ8;H0YM04;H0YMC1;P15144;Q59E93 AB209918;ABBA01053024;ABBA01053025;ABBA01053026;AC018988;AC079075;AF527789;AJ426050;AJ426067;AJ427985;AK298134;AK298242;AK298339;AK300946;AMYH02031027;AMYH02031028;BC058928;BQ879097;CH471101;JC231878;KF510413;M22324;M55522;NM_001150;X13276;XM_005254892 AAA51719;AAA83399;AAH58928;AAQ09003;BAD93155;BAG60413;BAG60508;BAG60587;BAG62575;CAA31640;CAD19802;CAD19822;CAD20931;CDM22281;EAX02067;EAX02068;NP_001141;P15144;XP_005254949 Hs.1239 1775628;1795360;2125204;2127680;2183227;2189373 ANPEP_1718;D15S1186;D15S1289;D2S2822;MARC_3220-3221:991936916:1;STS-F04048 AP-M;AP-N;APN;CD13;GP150;LAP1;P150;PEPN;hAPN OTTHUMP00000194690;alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150);alanyl aminopeptidase;aminopeptidase M;aminopeptidase N;microsomal aminopeptidase;myeloid plasma membrane glycoprotein CD13 APPROVED protein-coding ENSG00000166825 HGNC:500 01055 151530 REVIEWED 1606331 ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN nucleocytoplasmic transport; FOUND IN cytoplasm; endoplasmic reticulum; nucleus; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 15 15 15 q23 45960069 46002437 - 69070874 69113261 - 68778535 68820922 - 6480464 10086381;10400610;11018049;11163245;11360199;11555662;11729309;11830591;11909973;12477932;12522243;12524539;12565890;12807913;15100215;15136563;15247276;15308690;15489334;15642345;15895553;16009334;16169070;16341127;16344560;1655467;16713569;17142970;17266954;17557114;17643375;17962813;18410380;18439902;19121999;19565487;19805454;19913121;20558741;20628086;20683644;21139048;21152064;21209461;21317927;21325029;21642993;21693764;21890473;21906983;21963094;21988832;22174317;22863883;23000965;23667531;23839903;24816145;8125298;8192856;8530098;8619474;8679524;8970164;9110174;9144194;9353121 8125 H0YN26;H7BZ09;P39687 ABBA01038772;ABBA01038773;ABBA01038774;AC087639;AC090734;AF025684;AK127498;AK223280;AK312703;AMYH02030692;AW383928;AY007110;AY349171;BC000608;BC007200;BC064969;BC106719;BC125143;BT007436;CH471082;DA825897;KF456083;NM_006305;U60823;U73477;X75090;XM_006720707 AAB39706;AAB91548;AAC50570;AAH00608;AAH07200;AAI06720;AAI25144;AAP36104;AAQ79832;ABM84220;ABM87728;BAD97000;BAG35581;CAA52981;EAW77824;EAW77825;NP_006296;P39687;XP_006720770 Hs.458747 1684419;1688130;2114455;2144213;2148022;2178054;2220348;5021894;5492885 D15S1181;D15S1277;D9S2077;RH46906;RH70903;SGC30863;UniSTS:480453;UniSTS:483159;ha2356 C15orf1;HPPCn;I1PP2A;LANP;MAPM;MGC119787;MGC150373;PHAP1;PP32 OTTHUMP00000205820;PHAPI;acidic leucine-rich nuclear phosphoprotein 32 family member A;acidic nuclear phosphoprotein pp32;cerebellar leucine rich acidic nuclear protein;hepatopoietin Cn;inhibitor-1 of protein phosphatase-2A;leucine-rich acidic nuclear protein;mapmodulin;potent heat-stable protein phosphatase 2A inhibitor I1PP2A;putative HLA-DR-associated protein I;putative human HLA class II associated protein I protein-coding ENSG00000140350 HGNC:13233 09014 600832 VALIDATED 1343739 ANTP3 adenine nucleotide translocator pseudogene 3 (clone 13) 2157297 296 HGNC:509 1351063 ANP32D acidic (leucine-rich) nuclear phosphoprotein 32 family, member D Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47662478 47662873 + 48866448 48866843 + 48472665 48473060 + 6480464 10086381;10400610;10471270;11360199;11678310;12477932;15489334;15895553;21890473;22219177 23519 O95626 ABBA01031481;AC089987;AMYH02026422;BC069122;CH471111;NM_012404;U71084 AAD13667;AAH69122;EAW57983;NP_036536;O95626 Hs.532658 1688342;2220348 RH80847;UniSTS:480453 PP32R2 OTTHUMP00000222520;acidic leucine-rich nuclear phosphoprotein 32 family member D;acidic nuclear phosphoprotein 32D;phosphoprotein 32-related protein 2;pp32 related 2;tumorigenic protein pp32r2 APPROVED protein-coding HGNC:16676 06046 606878 REVIEWED 1348379 ANTP4 adenine nucleotide translocator pseudogene 4 (clone 9) 2157297 297 HGNC:510 1321615 ANP32E acidic (leucine-rich) nuclear phosphoprotein 32 family, member E ENCODES a protein that exhibits histone binding; phosphatase inhibitor activity (ortholog); INVOLVED IN histone exchange; negative regulation of catalytic activity (ortholog); FOUND IN nucleus; Swr1 complex; cytoplasmic membrane-bounded vesicle (ortholog); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 3,4-dichloroaniline 1 1 1 q21.2 123306449 123324235 - 150190717 150208504 - 150218417 150236156 - 1580863;6480464 11076863;11230166;11256614;12438741;12477932;14702039;15489334;15489336;15635413;15895553;16226712;16344560;16381901;16712791;17643375;18685789;19471022;19836239;20195357;21139048;21693764;21800051;21890473;21906983;21963094;21987572;22053931;22174317;22505724;22863883;22939629;22944692;23000965;23667531;24463511;24816145;8125298;8889548 81611 B4E0D5;E9PI45;E9PLC4;E9PPH5;H0YCE2;Q5TB19;Q5TB25;Q9BTT0 ABBA01049326;ABBA01049327;AC242988;AK025624;AK092672;AK095228;AK223469;AK303333;AK303392;AL138795;AL832664;AL832674;AL833660;AY057381;BC003380;BM974388;CB123292;CH471121;DA379137;NM_001136478;NM_001136479;NM_001280559;NM_001280560;NM_030920;XM_005245513;XM_005245514;XR_426799;XR_426800 AAH03380;AAL25814;BAC03942;BAC04505;BAD97189;BAG64397;BAG64448;CAI22806;CAI22807;CAI22808;CAI22809;CAL37954;EAW53575;EAW53576;EAW53577;EAW53578;EAW53579;NP_001129950;NP_001129951;NP_001267488;NP_001267489;NP_112182;Q9BTT0;XP_005245570;XP_005245571 Hs.656466 1686218;1697178;2179397;2218222 AL009464;ANP32E__4315;RH102078;RH93887 LANP-L;LANPL;MGC5350 LANP-like protein;OTTHUMP00000014533;OTTHUMP00000014534;OTTHUMP00000037718;OTTHUMP00000231932;acidic leucine-rich nuclear phosphoprotein 32 family member E;leucine-rich acidic nuclear protein like protein-coding ENSG00000143401 HGNC:16673 16493 609611 VALIDATED 7206882 ANTXRLP1 anthrax toxin receptor-like pseudogene 1 10 10 q11.22 47590261 47640844 - 46219025 46269608 - 10737800 100996567 ABBA01033529;AL450388;AMYH02022869;BE775052;BX091290;BX280825;HY015468;HY092480;NR_103827;NR_103828 Hs.546758 pseudo HGNC:45004 VALIDATED 1346318 ANTXR2 anthrax toxin receptor 2 This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 4 q21.21 78122440 78287976 - 80822771 80994626 - 79901617 80073472 - 1599125;1599126;1580863;6480464;7240710;8554872;8699517 14508707;17054395 11683410;12477932;12551953;12700348;12973667;14702039;15044490;15079089;15231748;15243628;15326297;15337774;15489334;15725249;16344560;16401723;16473908;16564009;17183731;19191226;19240061;19858192;20062062;20080640;20301698;20331448;20652271;21041274;21139048;21328543;21743469;21890473;21906983;22118297;22315420;22383261;22855243;23000965;24380801;24639526;24641616;24667935;24739539;24742682;9847074 118429 A4FUA5;J3KPY9;P58335;Q32Q26 AB209913;ABBA01063399;ABBA01063400;AC097711;AC109518;AC114773;AK023450;AK055636;AL110207;AL831848;AL832851;AMYH02009556;AMYH02009557;AMYH02009558;AMYH02009559;AMYH02009560;AMYH02009561;AMYH02009562;AMYH02009563;AMYH02009564;AY040326;AY233452;BC034001;BC042596;BC047345;BC107876;BC114374;BG235895;BM989747;BQ432519;CH471057;DA194583;DA989889;DB280658;DB283536;NG_015987;NM_001145794;NM_001286780;NM_001286781;NM_058172 AAH34001;AAI07877;AAI14375;AAK77222;AAP04016;AAY40907;BAB70976;BAD93150;CAI46157;EAX05848;EAX05849;EAX05850;NP_001139266;NP_001273709;NP_001273710;NP_477520;P58335 Hs.162963 1642896;1652146;1662841;1670802;1770846;1775760;1851420;1852217;1857418;2149646;2153751;2163978;2167035;2173560;2176941;5092790;5111272 A006E32;AFM358tf9;D4S2435;D4S3243;D4S3348;G16717;G32331;G34526;NIB450;RH17514;SHGC-25128;SHGC-25175;SHGC-59243;SHGC-59835;SHGC-60119;SHGC-8625;WI-8895 CMG-2;CMG2;FLJ31074;HFS;ISH;JHF;MGC111533;MGC45856 OTTHUMP00000200884;OTTHUMP00000200885;OTTHUMP00000200886;OTTHUMP00000200887;capillary morphogenesis gene 2 protein;capillary morphogenesis protein 2 APPROVED protein-coding ENSG00000163297 HGNC:21732 07452 228600;608041 REVIEWED 1316162 ANTXR1 anthrax toxin receptor 1 This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008] 2 2 2 p13.1 69091094 69326525 + 69240276 69476459 + 69013144 69249327 + 6480464;7240710;8699517;8554872 10545197;10947988;11559528;11574549;11700562;11709713;12477932;12700348;14507921;14702039;14755251;14759258;15489334;15689409;15777794;15993844;16141341;16401723;16564009;16762926;17081983;17207965;19322201;19440709;19581412;19817382;19834535;20221438;20360068;20585457;21079738;21129411;21139048;21206026;21573768;21829615;21890473;21906983;21963094;21965755;21987572;21998595;22085271;22303962;22340594;22912819;23000965;23602711;23607659;23832666;24060446;24742682;8125298;8889548 84168 H0YC24;Q53FL1;Q96EC6;Q9H6X2 ABBA01075491;ABBA01075492;ABBA01075493;ABBA01075494;ABBA01075495;AC112230;AC114802;AF090095;AF279145;AF421380;AK001463;AK002160;AK025429;AK126783;AK223273;AK292113;AK309553;AMYH02004016;AMYH02004017;BC012074;BC012475;BU687536;CF126791;CH471053;CS430823;DC360415;DC361072;JX424838;JX424839;NG_012649;NM_018153;NM_032208;NM_053034 AAH12074;AAH12475;AAK52094;AAL26496;AAX88860;AAY24067;ACE87019;ACE87706;ADQ31687;AFQ94038;AFQ94039;BAA91707;BAB15128;BAD96993;BAF84802;CAL60148;EAW99855;EAW99856;EAW99857;EAW99858;NP_060623;NP_115584;NP_444262;Q9H6X2 Hs.165859 1644440;1645693;1660068;1661118;1673344;1673997;1683511;1716939;1720033;1734968;1753949;1755673;1846725;1848977;2164447;2185111 A004S16;D2S1716E;G29341;RH121849;RH123811;RH46382;RH48247;RH69248;RH69279;RH91771;SHGC-142518;SHGC-35027;SHGC-57423;SHGC-89350;WI-16379;WI-18140 ATR;FLJ10601;FLJ11298;FLJ21776;GAPO;TEM8 2310008J16Rik;2810405N18Rik;OTTHUMP00000159975;OTTHUMP00000202140;OTTHUMP00000202171;tumor endothelial marker 8 APPROVED protein-coding ENSG00000169604 HGNC:21014 05913 230740;602089;606410 REVIEWED 1318989 ANXA10 annexin A10 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 4 4 4 q33 166343539 166438757 + 169013688 169108893 + 168081299 168187742 + 1580863;6480464;8554872 10458909;12000734;12477932;15489334;16341674;16712791;18029348;19582876;20664964;21175800;21906983;21979422;23029062;23073794;23715859;23824909;24024557;24625416;25027693 11199 Q9UJ72 ABBA01070325;ABBA01070326;AC068989;AC095051;AC116634;AF196478;AJ238979;AMYH02010470;AMYH02010471;AY626137;BC007320;BM768053;CB163976;CH471056;KF457832;NM_007193;XM_006714073 AAF06672;AAH07320;AAT42216;ABW03531;CAB51917;EAX04810;NP_009124;Q9UJ72;XP_006714136 Hs.188401 1719885;2107833 ANXA10_7997;RH123635 ANX14 OTTHUMP00000219959;annexin 14;annexin-10;annexin-14 APPROVED protein-coding ENSG00000109511 HGNC:534 09724 608008 REVIEWED 730873 ANXA1 annexin A1 Annexin I belongs to a family of Ca(2+)-dependent phospholipid binding proteins which have a molecular weight of approximately 35,000 to 40,000 and are preferentially located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity. Since phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory activity. [provided by RefSeq, Jul 2008] 9 9 9 q21.13 46339417 46357944 + 75766721 75785309 + 73151865 73170391 + 734574;1580863;734965;2306888;2306896;2306907;2306939;2306898;2306914;2306928;2306942;2306950;2306952;2306954;2306889;2306948;2306920;2306905;2306910;2306891;1599668;2325722;2325723;6480464;7421536;7421655;7421656;7421565;7421570;7421660;7421562;7421535;7421563;7421564;7421553;7421566;7421567;7421555;7421583;7421585;7421662;7421587;7421580;7483559;7421560;7421657;7421556;7421558;7421540;7421541;7421575;8552898;7421559;7421573;7421537;7421538;7421539;8554872 10331485;10403283;10489933;10603033;11005211;11423489;11641252;12368905;1385581;14587099;15784654;16034371;16109804;16316942;17653046;17917587;17974280;17994624;1830327;18761105;18776816;19003866;19171478;19173988;20133820;20308542;20353277;20549082;20701627;20821804;20953576;20970165;21633711;21990306;22092555;22101490;22279949;22323911;22617647;22740770;22782996;22924634;22964301;23201116;23236538;23267026;23645879;2530899;8755646;8919037;9022675;9222544;9269316;9472682;9514092 10512675;10882119;10908733;11468004;11574426;11759108;12165536;12236584;12477932;12645011;12679902;12689596;12859969;1374236;14506282;14633604;14733945;15047060;15064349;15157173;15161933;15168732;15187149;15226301;15447985;15476183;15485879;15489334;15526283;15581623;15592455;15883023;15944914;16014420;1602151;16100712;16130169;16226712;16324197;16460738;16530434;16627980;16675446;1670773;16741918;16883066;16899607;16949910;16973129;16984915;17008549;17019707;17023068;17081983;17215481;17255364;17317721;17340616;17353931;17372018;17626739;17676665;17681950;17873281;17932043;17971499;18029348;18164291;18297688;1832554;18396684;18566442;18577758;18594025;18652761;18663355;18673418;18706208;18767904;18794547;18850631;19056867;19076685;19101730;19104500;19190083;19204938;19208747;19289595;19351789;19394292;19428102;19596235;19615732;19738201;19767728;19850308;19913121;20007579;20025479;20061392;20163912;20237496;20359522;20398702;20558817;20562859;20602103;20628086;20665809;20679535;20713499;20872967;20924191;20930115;20962261;21122411;21127395;21132403;21139048;21145461;21195640;21254404;21319273;21365324;2138016;21383699;21398608;21412170;21420379;21800051;21836070;21890473;21900206;21903368;21906983;21963094;22056994;22116825;22164217;22304920;22378018;22505724;22586326;22610094;22613333;22623428;22640735;22701020;22723974;22736399;22773844;22777765;22792315;22909323;22929401;22939629;23000965;23017499;23029153;23154128;23241962;23277546;23341933;23376147;23403091;23413360;23431236;23638088;23674846;23727357;23754495;23786757;23824909;23862649;23958797;23991102;24130820;24156336;24163370;24282368;24300781;24525704;24550385;2457390;24654937;24657165;24816145;25027693;2532504;2936963;2967291;2969496;2971450;3303336;8425544;8453382;8557678;8587144;8955167;9459484;9915835 301 P04083;Q5T3N0;Q5T3N1;Q5TZZ9 AB451274;AB451401;ABBA01033867;AK074480;AK296808;AL359997;AMYH02020984;AMYH02020985;BC001275;BC018683;BC034157;BC035993;BT019896;BT019916;BT019917;CH471089;CR407684;GU997628;NM_000700;U25414;X05908 AAH01275;AAH34157;AAH35993;AAV38699;AAV38719;AAV38720;ABM82099;ABM85264;ADZ76495;BAG59381;BAG70088;BAG70215;CAA29338;CAG28612;EAW62545;EAW62546;EAW62547;EAW62548;EAW62549;EAW62550;NP_000691;P04083 Hs.494173 1645301;1649029;1652664;1667382;2123198;2177746;5017961;5093836 A009X30;ANXA1;G32952;RH68409;SHGC-12349;SHGC-13051;STS-H67867;STS-U25414 ANX1;LPC1;p35 OTTHUMP00000021474;OTTHUMP00000021475;annexin I (lipocortin I);annexin-1;calpactin II;calpactin-2;chromobindin-9;lipocortin I;phospholipase A2 inhibitory protein APPROVED protein-coding ENSG00000135046 HGNC:533 01060 151690 REVIEWED 1602061 ANTXRL anthrax toxin receptor-like ENCODES a protein that exhibits metal ion binding (inferred); receptor activity (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH paracetamol (ortholog); phenobarbital (ortholog); pirinixic acid (ortholog) 10 10 10 q11.22 42590783 42634004 - 47658233 47701443 + 46286997 46330266 + 6480464 14702039;15164054;16344560 195977 A6NF34 ABBA01033527;ABBA01033528;ABBA01033529;AC244230;AK057316;AL450388;AL603965;AMYH02022869;DB133812;NM_001278688;XM_006717684 A6NF34;NP_001265617;XP_006717747 Hs.538515 1718759;2115405;5022322 D11S2560;G16010;RH123069 protein-coding ENSG00000274209 HGNC:27277 PROVISIONAL 1344486 ANXA2P3 annexin A2 pseudogene 3 INTERACTS WITH 17beta-estradiol; arsenous acid; bucladesine 10 10 10 q21.3 59854487 59855837 + 66585285 66586634 + 64825528 64826877 + 6480464 20339536;2174397 305 ABBA01019520;AC069020;AMYH02023213;M62895;NR_001446 Hs.591361 ANX2L3;ANX2P3;LIP2;LPC2C pseudo HGNC:540 PROVISIONAL 1320510 ANXA11 annexin A11 This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain the calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, May 2013] 10 10 10 q23 75905819 75956262 - 81914880 81965433 - 80155124 80205677 - 1580863;6480464 10037139;11013079;11883939;12445460;12477932;12577318;12601007;12805373;1299619;14702039;15197175;15489334;1602151;16169070;16189514;16344560;16385451;17081065;17255364;18256029;19056867;19165924;19345290;19484149;19724273;19946888;20093723;20093729;20458337;20691033;20805159;21139048;21145461;21562576;21890473;21906983;22053931;22586326;22936702;22939629;23000965;23144326;23151485;23579219;23824909;24032725;24583282;24816145;7508441;8125298;8639854;9188810;9268363;9503022 311 H0Y6E1;P50995;Q5T0G7;Q5T0G8;Q5T0G9 AB209770;ABBA01003806;ABBA01003807;ABBA01003808;ABBA01003809;AJ278463;AJ278464;AJ278465;AK000567;AK056107;AK126287;AK222918;AK298362;AK300509;AK301047;AL356095;AL357617;AL513174;AMYH02023415;BC007564;BT019934;CH471142;CR450323;DA558997;L19605;NM_001157;NM_001278407;NM_001278408;NM_001278409;NM_145868;NM_145869;XM_005269741;XM_005269742;XM_006717813;XM_006717814 AAA19734;AAH07564;AAV38737;ABM84429;ABM87480;BAD93007;BAD96638;BAG51628;BAG54303;BAG60604;BAG62659;BAH13296;CAB94995;CAB94996;CAB94997;CAG29319;EAW80399;EAW80400;EAW80401;EAW80402;EAW80403;EAW80404;EAW80405;NP_001148;NP_001265336;NP_001265337;NP_001265338;NP_665875;NP_665876;P50995;XP_005269798;XP_005269799;XP_006717876;XP_006717877 Hs.530291 1797284;2128279;2136356;5122071;5491940 ANXA11;ANXA11_1921;D10S2353;STS-N35254;WI-17317 ANX11;CAP-50;CAP50 56 kDa autoantigen;OTTHUMP00000019955;OTTHUMP00000019956;OTTHUMP00000019957;OTTHUMP00000019958;annexin XI;annexin-11;autoantigen, 56-kD;calcyclin-associated annexin 50 APPROVED protein-coding ENSG00000122359 HGNC:535 03983 602572 REVIEWED 736099 ANXA2 annexin A2 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q22.2 37527343 37578364 - 60639350 60690185 - 60347151 60397986 - 1578382;1580863;1300285;2306888;2325731;2325728;2317307;6480464;7421570;7421560;7421559;8554872 11423489;14587099;14702107;15784727;16450333;19171478;19260470;20493868;20970165 10077593;10213612;10409742;10512675;10777578;10809787;11106497;11108961;11295233;11781322;11790298;11866539;11978811;12045186;12171929;12468550;12477932;12628297;12629510;12660155;12699894;12730231;12938929;13679511;14504107;14506282;14522961;14613585;14672933;14699089;14702039;14741744;14991775;14995994;15009185;15047060;15051937;15064349;15070701;15161933;15166316;15211578;15226301;15226372;15257287;15302870;1531641;15388255;15471954;15489334;15526283;15554585;15567461;15574370;15635413;15788416;15849182;15881658;15940368;15944914;15951569;15952740;16009940;1602151;16051665;16100712;16177123;16226712;16230353;16289162;16331566;16493010;16501079;16524621;16526095;16565220;16643892;16709165;16797773;16882661;16940516;16963080;16984913;16989986;17065584;17081065;17081983;17239928;17244347;17254974;17255364;17353931;17361185;17441315;17513451;17581860;17620599;17626749;17709546;17711622;17824845;17971878;17999956;18008140;18084608;18160415;18164291;18172692;18174463;18211896;1825830;18262347;18289715;18332131;18384219;18389276;18434302;18494762;18502476;18565825;18636554;18712570;18767904;18799458;18850631;18924133;18990701;19016789;19020748;19022301;19056867;19176991;19190083;19289089;19325895;19339807;19380152;19380743;19471022;19513064;19549357;19556289;19585213;19596686;19605586;19642359;19656851;19724273;19738201;19764771;19805454;19823170;19885616;19912576;19913121;19946888;19951950;19954599;1999197;20000738;20015551;20018898;20047591;20079732;20093721;20093722;20121258;20225235;20229030;20335258;20379614;20407807;20540360;20561442;20628086;20702651;20706999;20826156;20847146;20849852;20947498;21033036;21044950;21110914;21122411;21132403;21139048;21145461;21146216;21150319;21182205;21193750;21237296;21319273;21330046;21372205;2138016;2148288;21491466;21565611;21572519;21603851;21645192;2174397;21809360;21817168;21832049;21841072;21849434;21886777;21890473;21900167;21906983;21908427;21918681;21928315;21963094;21976520;21987572;22004035;22044461;22053931;22141411;22223826;22230505;22235123;22266860;22301157;22452176;22452352;22493182;22587461;22623428;22645245;22679123;22681645;22705595;22792315;22822523;22830395;22848640;22859294;22863883;22879587;22913982;22917188;22936677;22939629;22939813;22940583;22957061;23000965;23091277;23091278;23131771;23139605;23148505;23174572;23188673;23226323;23254330;23275167;23334362;23383273;23391921;23402259;23494179;23522334;23529818;23558678;23572070;23637395;23696646;23713052;23721211;23741361;23757730;23792445;23824909;23840117;23861394;23886630;23950866;23994525;24019232;24111848;24239898;24244333;24332808;24337577;24550385;2456953;24583282;24654937;24719459;24808179;24816145;25027693;2946940;2969496;3013422;7510700;7518469;7821789;7851890;7961821;8110754;8117306;8125298;8449982;8636985;8692841;8834809;8898866;8955167;9184228;9315650;9515022;9886297 302 H0YKL9;H0YKN4;H0YKS4;H0YKV8;H0YKX9;H0YKZ7;H0YL33;H0YLE2;H0YLV6;H0YM50;H0YMD0;H0YMD9;H0YMM1;H0YMT9;H0YMU9;H0YMW4;H0YN28;H0YN42;H0YN52;H0YNA0;H0YNB8;H0YNP5;P07355 AA661718;ABBA01038951;ABBA01038952;AC087385;AK092006;AK124427;AK222542;AK297923;AK309356;AMYH02030553;AMYH02030554;AW087150;BC001388;BC001748;BC009564;BC013843;BC015834;BC016774;BC021114;BC023990;BC052558;BC052567;BC066955;BC068065;BC093056;BT007432;BX640598;CH471082;CQ878716;D00017;D28364;FJ224302;NM_001002857;NM_001002858;NM_001136015;NM_004039 AAH01388;AAH09564;AAH15834;AAH16774;AAH21114;AAH23990;AAH52558;AAH52567;AAH66955;AAH68065;AAH93056;AAP36100;ABM81934;ABM85113;ACI45994;BAA00013;BAA05730;BAG52463;BAG60240;CAE45704;CAH59520;EAW77582;EAW77583;EAW77584;EAW77585;EAW77586;EAW77587;NP_001002857;NP_001002858;NP_001129487;NP_004030;P07355 Hs.511605 1644802;1687860;1688955;1745631;1792528;2138525;5016781 D15S1185;D15S1292;GDB:626485;PMC152906P1;RH15753;RH66139;SHGC-67307 ANX2;ANX2L4;CAL1H;HEL-S-270;LIP2;LPC2;LPC2D;P36;PAP-IV OTTHUMP00000163650;annexin II;annexin-2;calpactin I heavy chain;calpactin I heavy polypeptide;calpactin-1 heavy chain;chromobindin 8;chromobindin-8;epididymis secretory protein Li 270;lipocortin II;placental anticoagulant protein IV;protein I APPROVED protein-coding ENSG00000182718 HGNC:537 01061 151740 REVIEWED 1316801 ANXA13 annexin A13 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 8 8 8 q24.13 120881263 120937857 - 124693034 124749647 - 123680794 123737407 - 1580863;6480464;8554872 10737800;10871286;11581287;11961095;12477932;14718574;1530946;15813707;18029348;19056867;20701074;21139048;21184583;22219177;8125298;9503022 312 E5RIN3;P27216 ABBA01037883;AC011134;AC135166;AJ306450;AK057781;AK223374;AK290281;AMYH02018709;AW296908;AW854063;BC125158;BG823061;CH471060;CR541838;NM_001003954;NM_004306;Z11502 AAI25159;BAD97094;BAF82970;CAA77578;CAC34622;CAG46637;EAW92046;EAW92047;EAW92048;NP_001003954;NP_004297;P27216 Hs.181107 1703414;1750865;2114426;2131330 D8S1979;D8S2044;SHGC-104642;SHGC-68785 ANX13;ISA;MGC150460 OTTHUMP00000228108;OTTHUMP00000228109;annexin XIII;annexin, intestine-specific;annexin-13;intestine-specific annexin APPROVED protein-coding ENSG00000104537 HGNC:536 03984 602573 REVIEWED 1347050 ANXA2P2 annexin A2 pseudogene 2 ENCODES a protein that exhibits calcium ion binding (inferred); calcium-dependent phospholipid binding (inferred); cytoskeletal protein binding (inferred); INVOLVED IN negative regulation of catalytic activity (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; arsenous acid; cadmium atom 9 9 9 p13 33556028 33557326 + 33624223 33625532 + 33624225 33625534 + 6480464 19615732;20000738;21145461;21555518;2174397;21906983;23184937;24332808;24816145;2969496 304 A6NMY6 ABBA01065043;AL139008;AMYH02019423;M62898;NG_001337;NR_003573 A6NMY6 Hs.534301 1687860;1745631;1792528 GDB:626485;PMC152906P1;RH66139 ANX2L2;ANX2P2;LPC2B pseudo HGNC:539 VALIDATED 735865 ANXA3 annexin A3 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008] 4 4 4 q21.21 76768779 76827650 + 79472742 79531605 + 78551588 78610451 + 1580863;6480464;2289160;8554872 18055803 10391209;10662590;12477932;12665801;15226301;15489334;16009940;16130169;16169070;16236264;17205602;17207965;18029348;1830024;19056867;20103635;20167856;21055154;21132403;21137070;2138016;2138632;21435174;2159184;21890473;21906983;22189913;22304920;22446963;22558069;22939629;23000965;23011854;23464856;23631820;24529757;24824926;2968983;2975506;7526843;8276419;8626524;8639653;8889548;9497492;9550422 306 D6RA82;D6RAZ8;D6RCA8;D6RFG5;D6RFJ9;P12429 AB209868;ABBA01063381;ABBA01063382;ABBA01063383;AC104808;AK313945;AMYH02009543;BC000871;BU674495;BX336217;CH471057;CR407648;L20591;M20560;M63310;NM_005139;XM_005262973 AAA16713;AAA52284;AAA59496;AAH00871;ADQ32626;BAD93105;BAG36663;CAG28576;EAX05822;EAX05823;EAX05824;NP_005130;P12429;XP_005263030 Hs.480042 1658258;1683529;1687095;1690994;1743023;1771450;2114544;2116409;2128299;2171653 D4S3345;D4S451;GDB:249615;RH10990;SHGC-24222;SHGC-59531;SHGC-59532;SHGC-67306;SHGC-67856;SHGC4-147 ANX3 35-alpha calcimedin;Annexin III (lipocortin III);OTTHUMP00000160701;OTTHUMP00000219237;OTTHUMP00000219238;PAP-III;annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha);annexin-3;calcimedin 35-alpha;inositol 1,2-cyclic phosphate 2-phosphohydrolase;lipocortin III;placental anticoagulant protein III APPROVED protein-coding ENSG00000138772 HGNC:541 00111 106490 REVIEWED 735938 ANXA4 annexin A4 Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. [provided by RefSeq, Jul 2008] 2 2 2 p13 69820355 69904776 + 69947946 70053596 + 69720796 69826464 + 1580863;6480464 10708762;10883672;10949146;10978337;12324456;12477932;1346776;15145526;15226301;15489334;15952740;16021519;16130169;16687573;16954445;17363042;17676665;18029348;18164291;18781797;19056867;19471022;19598262;19913121;19955935;20000738;20237821;20360068;20379614;20602103;20628086;20648654;21044950;21139048;21348943;2138016;2143074;2148260;21800051;21890473;21900206;21906983;22053931;22056994;2254922;22847161;22883517;22939629;22970268;23000965;23290009;23362303;24150977;24223161;24457600;24816145;2530088;2970257;2974032;2975506;8002935;8631806;8798684;8882729;8889548;9084877;9720986 307 P09525;Q6LES2;Q6P452 AB209457;ABBA01075512;ABBA01075513;ABBA01075514;AC019206;AC092431;AC112787;AK058017;AK293177;AK293396;AK293406;AK303960;AK315511;AMYH02004026;AMYH02004027;AMYH02004028;AMYH02004029;AY453398;BC000182;BC011659;BC063672;BE886769;BX641114;CB305705;CH471053;CR407681;D78152;FJ224287;M19383;M82809;NM_001153;XM_006712000 AAA51740;AAC41689;AAH00182;AAH11659;AAH63672;AAS47515;AAY14864;ABM83780;ABM87100;ACI45979;BAA11227;BAD92694;BAG37892;BAG56720;BAG56905;BAG56913;BAG64884;CAE46052;CAG28609;EAW99844;NP_001144;P09525;XP_006712063 Hs.422986 1710230;1768411;1797286;2120994;2144581;2170185;2186319;5020274;5024761 ANXA4_2332;D2S2560;D2S2862;L18441;RH1484;RH36905;RH65876;SHGC-15259;SHGC-83751 ANX4;DKFZp686H02120;HEL-S-274;MGC75105;P32.5;PAP-II;PIG28;PP4-X;ZAP36 35-beta calcimedin;OTTHUMP00000160052;OTTHUMP00000202207;annexin IV (placental anticoagulant protein II);annexin-4;carbohydrate-binding protein p33/p41;chromobindin-4;endonexin I;epididymis secretory protein Li 274;lipocortin IV;placental anticoagulant protein II;proliferation-inducing gene 28;proliferation-inducing protein 28;protein II;zap 36/annexin iv APPROVED protein-coding ENSG00000196975 HGNC:542 00112 106491 REVIEWED 1605501 ANXA2R annexin A2 receptor INTERACTS WITH (+)-catechin 5 5 5 p12 42928300 42929565 - 43039182 43040447 - 43039080 43040345 - 10359570;12477932;15146197;16895901;18636554;19322201;22223826;23640736 389289 Q3ZCQ2 ABBA01024244;AC025171;AMYH02011231;AY032883;BC067873;BQ670161;CH471119;CN261477;NM_001014279 AAH67873;AAK52335;EAW56037;EAW56038;NP_001014301;Q3ZCQ2 Hs.529385 1668102 RH41910 AX2R;AXIIR;C5orf39 annexin II receptor;annexin-2 receptor APPROVED protein-coding ENSG00000177721 HGNC:33463 18393 611296 VALIDATED 733718 ANXA6 annexin A6 Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010] 5 5 5 q33.1 146561624 146618767 - 150480267 150537443 - 151100706 151157882 - 1580863;6480464 10571081;10618640;11696438;12140262;12477932;12534274;12885247;1420329;14530271;14702039;15047060;15226301;15242332;15355961;15489334;15576473;16153422;16169070;16605264;16674946;16944923;17081065;17255364;17822395;17824845;17893145;18164291;18245088;1831222;18781797;18786929;19056867;19322030;19345290;19386597;19900398;19946888;20000738;20363475;20706999;20888375;21119665;21139048;21145461;21185831;21216236;2138016;2139657;21672540;21890473;21906983;21963094;21990038;22053931;22399299;22505724;22586326;22797061;22863883;23000965;23341998;23349634;23360953;23541940;23683957;24194536;24354805;24583282;24816145;2528541;2731935;2963335;3258820;7698768;7753047;8146179;8709144;8798684;8834809;9195978;9480874;9515022;9883272 309 E5RFF0;E5RI05;E5RIU8;E5RJF5;E5RJR0;E5RK63;E5RK69;E7EMC6;H0YC77;P08133 ABBA01026265;ABBA01026266;ABBA01026267;ABBA01026268;AC008641;AI566871;AK126836;AK130077;AK290672;AK298582;AK303078;AMYH02012464;BC017046;BM904172;BQ924484;CH471062;D00510;DC411634;J03578;NM_001155;NM_001193544;X77673;XM_005268432;Y00097 AAA35656;AAH17046;ABM82536;ABW03390;BAA00400;BAC85290;BAC86715;BAF83361;BAH12818;BAH13893;CAA68286;EAW61684;EAW61685;EAW61686;EAW61687;NP_001146;NP_001180473;P08133;XP_005268489 Hs.412117 1744153;1757987;1758117;1758529;1772377;1781006;2136362;2145830;2147016;2217014;5491794 ANXA6;ANXA6_2739;GDB:392715;RH44551;RH47466;SGC34325;SHGC-147039;SHGC-147435;SHGC-148636;STS-AA031316;bac5670S ANX6;CBP68;CPB-II;p68;p70 67 kDa calelectrin;OTTHUMP00000226119;OTTHUMP00000226120;OTTHUMP00000226122;annexin VI (p68);annexin-6;calcium-binding protein p68;calelectrin;calphobindin II;calphobindin-II;chromobindin-20;lipocortin VI APPROVED protein-coding ENSG00000197043 HGNC:544 00231 114070 REVIEWED 1346050 ANXA2P1 annexin A2 pseudogene 1 INTERACTS WITH arsenous acid; cadmium atom; cobalt dichloride 4 4 4 q31.3 151553153 151554495 - 154228621 154229963 - 153307469 153308811 - 6480464 1611909;2174397 303 ABBA01070135;AC013477;AMYH02010317;M62896;NR_001562 Hs.546235 1687860;2138525 D15S1185;RH66139 ANX2L1;ANX2P1;LPC2A pseudo HGNC:538 VALIDATED 1317074 ANXA8 annexin A8 This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008] 10 10 10 q11.22 1 3160 + 48255204 48271369 + 47467993 47991772 - 1580863;2325733;2325735;6480464;8554872 18223320;19376120 11917092;12477932;1313714;1364010;15644210;15928709;16203777;16638567;17113583;18923148;20360068;21344395;21800051;21832049;23001853;2530088;8895530 653145 B4DTB3;P13928;Q5T2P8 AC245041;AK296573;AK296976;AK298761;AK300139;AK300158;AL591684;AL603922;BC004376;BC073755;BX547991;BX547994;BX649215;CB270161;DC339657;DR980366;FO681492;M81844;NM_001040084;NM_001271702;NM_001271703;XM_006717951;XR_246202;XR_428714;Z36830 AAB46383;AAH04376;AAH73755;ABM87774;BAG59193;BAG59518;BAG60903;BAG61925;BAG61941;NP_001035173;NP_001258631;NP_001258632;P13928;XP_006718014 Hs.535306;Hs.744068 5096416 SHGC-12720 ANX8;FLJ32754;VAC beta VAC-beta;annexin VIII;annexin-8;vascular anticoagulant-beta protein-coding ENSG00000265190 HGNC:546 602396 REVIEWED 734268 ANXA5 annexin A5 The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008] 4 4 4 q27 119974664 120003661 - 122589152 122618147 - 121667997 121696992 - 1578384;1580863;2317541;2317543;2317538;2317542;6480464;7241853;7241858;7242028;7242029;7242031;7242030 11271515;12200370;16025836;16501019;17999093;19488907;20648654;21124692;21918686;8056721;8814351 10329451;10903505;11076863;11256614;11773704;12102261;12477932;12689596;12732504;12769841;12798778;12871462;1310621;1311770;1397263;14710359;14764526;15173196;15242332;15242878;15280367;15286043;15381697;15489334;15489336;15526283;15634283;15692104;15952740;16009940;1602151;16130169;16169070;16381901;16389029;16449315;16579937;16670301;16704958;16785226;1683830;16916647;17053060;17137622;17339269;17363042;17408414;17540176;17676665;17681182;17766279;17869070;17893975;18164291;18384219;18462735;18703851;18773956;18781797;18951241;18976975;18977990;19056482;19056867;19234085;19238444;19345290;19372761;19461527;19471022;19578796;19596686;19620076;19639233;19639585;19652881;19799864;19810772;19846818;19946888;20000738;20174767;20360068;20532885;20542876;20643388;20705065;20805002;21044950;21067452;21078669;21139048;21185149;21289001;21298269;21319273;2138016;21426764;21450308;2147412;2148156;21563266;21685187;21693764;21741441;21832049;21890473;21906983;21963094;21988832;22053931;22174207;22266906;22304920;22341596;22425772;22452176;22463102;22536838;22624674;22635237;22728018;22804929;22807456;22879587;22939629;23000965;23284897;23383273;23443559;23498654;23529182;23724626;23824909;23850300;23899942;23981755;23984545;24021657;24140079;24152411;24250222;24304966;24318879;24337577;24423325;24466757;2455636;24600987;24816145;24872142;25080795;2532007;2957692;2960376;2963810;2964863;2967291;2967495;2968983;2974032;7519374;7958998;8034319;8045287;8495746;8667030;8834809;9398511;9435213;9584197 308 D6RBE9;D6RBL5;D6RCN3;E9PHT9;P08758;V9HWE0 ABBA01044728;ABBA01044729;AC096730;AK297909;AK312644;AMYH02010012;AY577779;BC001429;BC004993;BC012804;BC012822;BC018671;BC032093;CH471056;CR536522;CR541842;D00172;EU794590;J03745;M18366;M19384;M21731;NG_032042;NM_001154;U01681;U01691;U05770;X12454 AAA35570;AAA36166;AAA52386;AAB40047;AAB59545;AAB60648;AAH01429;AAH04993;AAH12804;AAH12822;AAH18671;AAY40954;ABM82870;ABW03461;ABW03769;ACJ13644;BAA00122;BAG35528;BAG60228;CAA30985;CAG38759;CAG46640;CAL38022;EAX05256;EAX05257;EAX05258;EAX05259;EAX05260;NP_001145;P08758 Hs.480653 1657939;1684010;1725703;1739051;1770139;1775143;2131277;2170965;2217012;5124144;7187404 ANXA5_3263;D4S2700;D4S3274;G62114;SHGC-50259;SHGC-59736;SHGC-67991;SHGC-8558;SHGC4-1011;WI-18730 ANX5;CBP-I;ENX2;HEL-S-7;PAP-I;PP4;RPRGL3;VAC-alpha OTTHUMP00000164026;OTTHUMP00000219982;OTTHUMP00000219983;OTTHUMP00000219985;anchorin CII;annexin 5;annexin V;annexin-5;calphobindin I;endonexin II;epididymis secretory protein Li 7;lipocortin V;placental anticoagulant protein 4;placental anticoagulant protein I;thromboplastin inhibitor;vascular anticoagulant-alpha APPROVED protein-coding ENSG00000164111 HGNC:543 00568 131230;614391 REVIEWED 1350124 ANXA8L2 annexin A8-like 2 This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008] 10 q11.22 47746816 47763041 + 6480464 11917092;12477932;1364010;14702039;15164054;15489334;15928709;16344560;18223320;20360068;21044950;21800051;21988832;2530088;8018923;8045287;8125298 244;414306 ABBA01007935;AC245513;AL603965;DA698972;NM_001630 ABM84356;CAH70574;CAH70575;NP_001621;Q5VT79 Hs.705389 5096416 SHGC-12720 ANXA8;bA145E20.2 annexin A8-like protein 2;annexin A8L2 protein-coding ENSG00000186807 HGNC:23335 03866 REVIEWED 1352405 ANXA9 annexin A9 The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008] 1 1 1 q21 124070194 124083809 + 150954499 150968114 + 150982023 150995638 + 1580863;6480464;8554872 10899159;12477932;12832069;15302935;15489334;16169070;16710414;19953087;20383146;21832049;21926416;21983785;22841549;23585552;24097068;9165068;9742942;9931420 8416 O76027 ABBA01049364;ABBA01049365;AF230929;AJ009985;AK314926;AL590133;AMYH02001869;BC005830;BJ993162;CH471121;CR536481;JB025796;NM_003568;XM_005245539 AAG16780;AAH05830;ABM83945;ABM87263;CAA08933;CAG38720;CCV20016;EAW53496;NP_003559;O76027;XP_005245596 Hs.3346 1768131;2217016 ANXA9_2947;SHGC-107 ANX31 OTTHUMP00000033027;annexin 31;annexin XXXI;annexin-31;annexin-9;pemphaxin APPROVED protein-coding ENSG00000143412 HGNC:547 603319 VALIDATED 1352932 AOAH acyloxyacyl hydrolase (neutrophil) This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010] 7 7 7 p14-p12 36537055 36748659 - 36552549 36764154 - 36512941 36724549 - 1580863;6480464;8554872 12477932;15342556;15489334;16344560;16815140;1883828;1987068;20205591;20237496;20379614;22723975;23251661;8088847;8089145;8125298;8613354 313 B7Z598;C9JJA7;F8WCP9;P28039 ABBA01056907;ABBA01056908;ABBA01056909;ABBA01056910;AC083876;AC087069;AK223476;AK297016;AK298644;AK308215;AMYH02015533;AMYH02015534;BC025698;BP310596;CH236951;CH471073;CR748867;DA469735;DC314135;KF454909;KF458438;KF511026;M62840;NM_001177506;NM_001177507;NM_001637 AAA35506;AAH25698;ABM81866;ABM85026;BAD97196;BAH12476;BAH12834;EAL23977;EAW94073;NP_001170977;NP_001170978;NP_001628;P28039 Hs.488007 1645411;1668566;1754535;1755325;1779914;1779980;1786198;1790567;2126054;2145683;2159245;2162966;2175072 AOAH;D7S2717;D7S781;HSC202_(7Gr362mb);RH17719;SHGC-106107;SHGC-132818;SHGC-142211;SHGC-154159;SHGC-154227;SHGC-33300;SHGC-52591;WI-9088 OTTHUMP00000128208;OTTHUMP00000206984;acyloxyacyl hydrolase APPROVED protein-coding ENSG00000136250 HGNC:548 00027 102593 REVIEWED 6481095 AOAH-IT1 AOAH intronic transcript 1 (non-protein coding) 7 7 36637440 36639726 - 36597834 36600120 - 100874264 ABBA01056908;AC087069;AMYH02015534;HG500189;NR_046764 Hs.690994 AC087069.1 ncrna HGNC:41307 PREDICTED 731625 ANXA7 annexin A7 Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008] 10 10 10 q22.2 68420787 68459438 - 75135189 75173841 - 73375431 73414083 - 734966;1580863;2292654;2292656;2292655;6480464;8554872 10570150;11287641;15073110;17708571 10672515;11278415;11338180;11839755;11994295;12445460;12477932;14519201;1533123;15489334;16385451;17018618;17112522;17255364;1825209;18256029;18449914;19056867;19322201;19602687;19946888;20093729;20190808;20195357;20691033;20858460;20936779;21139048;21145461;21432772;21531385;21586441;21800051;21900206;21906983;21963094;22053931;22939629;23000965;23383273;23437197;23582794;23651924;24007983;24188284;24816145;24865424;2542947;7515686;7738119;8053909;8125298;9268363 310 B2R657;B4DT77;B9ZVT2;P20073 AB062429;ABBA01020326;ABBA01020327;AK222552;AK295319;AK300086;AK301681;AK307772;AK309141;AK312447;AK313024;AL353731;AL512656;AMYH02023333;AMYH02023334;AW518993;BC001322;BC002632;BT007187;CH471083;CR407686;DC367313;J04543;M64272;NM_001156;NM_004034;XM_005269738;XM_005269739 AAA36616;AAH02632;AAP35851;BAB93492;BAD96272;BAG35354;BAG35859;BAG58296;BAG61889;BAG63154;CAG28614;EAW54493;EAW54494;NP_001147;NP_004025;P20073;XP_005269795;XP_005269796 Hs.631827 1654451;1797288;2116359;2117833;2175712;5120676;5120678;5120680 ANXA7_2109;GDB:369091;GDB:369094;GDB:369097;RH17592;RH47719;SHGC-12519;WI-11929 ANX7;SNX OTTHUMP00000019812;OTTHUMP00000019813;SYNEXIN;annexin VII;annexin-7 APPROVED protein-coding ENSG00000138279 HGNC:545 01720 186360 REVIEWED 1354199 ANXA8L1 annexin A8-like 1 This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Apr 2014] 10 10 10 q11.22 119 6073 - 47157983 47174180 - 46375590 46391784 + 6480464 11917092;12477932;1364010;14702039;15164054;15489334;15928709;16344560;18223320;20360068;21044950;21800051;21988832;2530088;8018923;8045287;8125298 728113 B4DTF2;P13928;Q5T2P7;Q5VT79 AC244230;AK223149;AK300191;AK307182;AK313626;AL391137;AL603965;BC008813;DA698972;DC381265;NM_001098845;NM_001278923;NM_001278924;NM_001630;X16662 AAH08813;ABM84356;BAD96869;BAG36386;BAG61964;CAA34650;CAH70574;CAH70575;CAI12203;CAI12204;NP_001092315;NP_001265852;NP_001265853;NP_001621;Q5T2P8 Hs.705389 5096416 SHGC-12720 ANXA8;ANXA8L2;VAC-beta;bA145E20.2;bA301J7.3 OTTHUMP00000019521;OTTHUMP00000019522;annexin A8-like protein 1;annexin A8-like protein 2;annexin A8L2;annexin VIII;annexin-8;vascular anticoagulant-beta protein-coding ENSG00000264230 HGNC:23334 VALIDATED 1343174 AOM arthroophthalmopathy, progressive (Stickler syndrome) 315 HGNC:551 732341 AOC1 amine oxidase, copper containing 1 This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] 7 7 7 q36.1 145106596 145115402 + 150524336 150558379 + 150824627 150861291 + 1298636;1580863;1300048;2315591;2312809;6480464;6907045;8554872 1632778;16895983;8182053 10660106;11603849;11855874;12072962;12419186;12477932;12690205;12755416;12913069;1356107;14702039;15489334;15928835;16489678;16846222;17651147;17700358;17985251;1898707;19670078;19701972;19764817;20062061;20124708;20602615;21040557;21225906;21488903;2217167;2227949;22433290;23099198;24097068;7626074;7806511;8144586;8195119;8396495;8595053;8645981;8829374;9399025 26 C9J0G8;C9J2J4;P19801 AACC02000108;ABBA01035175;AC006343;AC006479;AK092514;AK296638;AK307278;AK314806;AMYH02017064;AY948960;BC014093;BX648159;CH471173;M55602;NM_001091;NM_001272072;U11862;U11863;X78212;XM_005249967;XM_006715918 AAA58358;AAB60381;AAC50270;AAH14093;AAX81409;ADZ15523;BAG52564;BAG59239;CAA55046;EAL24490;EAW54081;EAW54082;EAW54083;EAW54084;EAW54085;EAW54086;EAW54087;NP_001082;NP_001259001;P19801;XP_005250024;XP_006715981 Hs.647097;Hs.733889 1767349;1852615;2128737;5014051;5016478;5017433;5020740;5022651;5037552 ABP1;D11S2921;D7S2745;D8S2278;D8S2279;GDB:434012;L17809;RH71199;STS-T76997 ABP;ABP1;DAO;DAO1;KAO OTTHUMP00000212758;OTTHUMP00000212759;OTTHUMP00000212762;OTTHUMP00000212763;OTTHUMP00000212764;amiloride binding protein 1;amiloride binding protein 1 (amine oxidase (copper-containing));amiloride-binding protein 1;amiloride-binding protein-1;amiloride-sensitive amine oxidase;amiloride-sensitive amine oxidase [copper-containing];amine oxidase copper domain-containing protein 1;diamine oxidase;histaminase;kidney amine oxidase APPROVED protein-coding ENSG00000002726 HGNC:80 00088 104610 REVIEWED 1344698 AOC2 amine oxidase, copper containing 2 (retina-specific) Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 17 17 17 q21 37652664 37658779 + 40996609 41002724 + 42844592 42850707 + 1580863;6480464;6907045;8554872 12477932;14585497;15146197;19588076;9119395;9722954 314 O75106 AB012943;ABBA01006405;AC016889;AF081363;AMYH02033441;BC142641;CA425343;CH471152;CN355968;D88213;DQ060035;NM_001158;NM_009590 AAD39345;AAI42642;AAY43129;BAA19001;BAA32589;BAA32590;EAW60895;EAW60896;NP_001149;NP_033720;O75106 Hs.143102 1648289;1657648;1769215;1770053 RH16239;RH47258;RH68315;STS-U11292 DAO2;RAO;SSAO retina-specific copper amine oxidase;semicarbazide-sensitive amine oxidase APPROVED protein-coding ENSG00000131480 HGNC:549 11889 602268 REVIEWED 7247040 AOC4P amine oxidase, copper containing 4, pseudogene 17 17 17 q21.31 37675234 37677306 + 41019162 41021234 + 42867145 42869217 + 14585497;17385066;20013028;9767118 90586 ABBA01006404;AC016889;AF047485;AF047486;AMYH02033441;NR_002773 Hs.367781 1658515 WI-17817 AOC4 pseudo ENSG00000260105 HGNC:48869 PROVISIONAL 1347849 AOC3 amine oxidase, copper containing 3 This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 17 17 17 q21 37659256 37666196 + 41003201 41010147 + 42851184 42858130 + 1580863;2313821;2313823;2313824;2313825;2313919;2313912;2313915;2313925;2313928;2313820;2313822;2313908;2313827;2313914;2313916;2313819;2313826;2313828;6480464;6907045;8554872 11052858;11522499;12466139;12606817;12663473;14656718;16339390;16397885;16947396;17393059;17977742;17993604;18032635;18312104;18436961;19336232;19635478;2218072 12097405;12477932;12700900;1375396;14585497;14715500;14726375;14755492;15057044;15242332;15489334;15830186;15919838;16046623;16335952;16344560;16361866;16507887;16511016;16556889;16806498;17006978;17255364;17256751;17393062;17400359;17431736;17490641;18005095;18029348;18644360;18853098;18991279;19361461;19761765;19764817;19789505;19861682;20063021;20512991;21114364;21139198;21282368;21512782;21585208;21819380;21821708;21988832;22133888;22150439;22354146;22618595;22714978;22753196;23062326;23120772;23349812;23769096;24379274;8619474;8972912;9110174;9653080 8639 K7EIK5;K7EL47;K7EQZ5;Q16853;Q9UEU7 AB050502;ABBA01006405;AC016889;AF054985;AF067406;AK025727;AK315129;AMYH02033441;BC036368;BC050549;CH471152;DA592022;DB250074;DQ143944;JX020506;NM_001277731;NM_001277732;NM_003734;NR_102422;U39447 AAC09346;AAC25170;AAC50919;AAH50549;AAZ38716;AGB67480;BAB18866;BAG37582;EAW60897;NP_001264660;NP_001264661;NP_003725;Q16853 Hs.198241 1663429;1663431;1675473;1770053;1795362 AOC3_83;RH11943;RH68315;RH81032;WI-20493 HPAO;SSAO;VAP-1;VAP1 amine oxidase, copper containing 3 (vascular adhesion protein 1);copper amine oxidase;membrane primary amine oxidase;placenta copper monamine oxidase;semicarbazide-sensitive amine oxidase;vascular adhesion protein 1;vascular adhesion protein 1 splice variant 2, VAP-1A3 APPROVED protein-coding ENSG00000131471 HGNC:550 04770 603735 REVIEWED 1347570 AP1AR adaptor-related protein complex 1 associated regulatory protein ENCODES a protein that exhibits AP-1 adaptor complex binding; kinesin binding; INVOLVED IN negative regulation of receptor recycling; negative regulation of substrate adhesion-dependent cell spreading; vesicle targeting, trans-Golgi to endosome; FOUND IN cytoplasm; Golgi apparatus; nucleolus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; clofibrate (ortholog) 4 4 4 q25 110446973 110485290 + 113152893 113191211 + 112231737 112270055 + 737633;6480464 12477932 11076863;11230166;11256614;15144186;15489334;15489336;15775984;15815621;16344560;16381901;18029348;19322201;19706427;19965873;20332099;21139048;21525240;21890473;8889548 55435 H0Y8Y4;Q63HQ0 ABBA01063814;AC109347;AF116612;AI273122;AK310787;AK315299;AL136628;AMYH02009932;BC009485;BM974015;BX647702;CH471057;DA463845;NM_001128426;NM_018569;XM_005263116 AAF71037;AAH09485;AAY40962;ACE86577;ACE87260;BAG37704;CAB66563;CAH56145;CAL37652;CAL37924;CAL38032;CAL38480;CAL38584;EAX06268;EAX06269;EAX06270;EAX06271;EAX06272;NP_001121898;NP_061039;Q63HQ0;XP_005263173 Hs.435991;Hs.606210 1711074;1717343 RH122162;SHGC-86173 2C18;C4orf16;GBAR;PRO0971;gamma-BAR AP-1 complex-associated regulatory protein;OTTHUMP00000163749;OTTHUMP00000219661;adapter-related protein complex 1-associated regulatory protein;gadkin;gamma-1-adaptin brefeldin A resistance protein;gamma-A1-adaptin and kinesin interactor;gamma1-adaptin brefeldin A resistance protein, gamma-BAR APPROVED protein-coding ENSG00000138660 HGNC:28808 12824 610851 VALIDATED 733539 AOX1 aldehyde oxidase 1 Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008] 2 2 2 q33 195205613 195291094 + 201450731 201536218 + 200586008 200671495 + 734575;1580863;1300048;6480464;6907045;8554872 7570184 11302742;12054535;12477932;16712791;17992631;18029348;19056867;19500084;19741035;19898482;20379614;20800603;21988832;22031625;22279051;22495427;22522748;23263164;23857892;23918943;8043023;8248161;8889548 316 B4DNI5;C9J244;H7BXF7;H7C3Q1;Q06278 AB046692;ABBA01062516;ABBA01062517;AC007163;AC080164;AF010260;AF017060;AK297930;AK301052;AK307738;AL079797;AMYH02005538;AMYH02005539;AMYH02005540;BC117179;BC117181;BM681054;CB153864;CH471063;FB789700;FB794625;FB798872;FB811643;FB848178;FB866440;FB885306;FB890693;FB896453;GN364811;HB659759;HB664684;HB668931;HB681702;HB718237;HB736499;HB755365;HB760752;HB766512;L11005;NM_001159 AAA96650;AAB83966;AAB83968;AAI17180;AAI17182;AAX93285;AAY24265;BAB40305;BAG60247;BAG62663;CAW36666;CAW39000;CAW41181;CAW47197;CAW63617;CAW71847;CAW80339;CAW82831;CAW86206;CAY77140;CBC02619;CBC04872;CBC06832;CBC12951;CBC45781;CBC62201;CBC79136;CBC84084;CBC89038;EAW70208;EAW70209;NP_001150;Q06278 Hs.406238 1772530;1772557;2160368 G31889;RH11649;WI-9291 AO;AOH1 OTTHUMP00000205961;aldehyde oxidase;azaheterocycle hydroxylase APPROVED protein-coding ENSG00000138356 HGNC:553 07537 602841 REVIEWED 1350470 AP1B1 adaptor-related protein complex 1, beta 1 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 22 22 22 q12.2 13523525 13584427 - 29723669 29784754 - 29327680 29388583 - 734576;1580863;6480464;6484113;8554872 7987321 10097102;10535737;10608806;10737800;10747088;10931822;10966473;11031247;11106728;11222723;11252894;11409905;11451993;11463741;11694590;11877451;11926829;12070169;12419313;12429846;12477932;12486136;12538641;12836198;15063762;15231748;15461802;15569716;15681409;15752756;15862967;16009131;16196087;16253302;16344560;17290217;18336259;18614564;19149577;19380743;20009918;20594957;21139048;21145461;21319273;21444685;21762802;21890473;21906983;21987572;21988832;22103831;22360420;22586326;22863883;22939629;22990118;23000965;23077317;23205726;23383273;23678182;23705972;24255178;24332808;24797263;24816145;7593184;8812422;8975699;9280305;9707615;9733768;9736718;9811606;9811611;9882340 162 C9J1E7;H7C034;Q10567 ABBA01055261;AC002059;AI084003;AK294406;AK296567;AK299613;AMYH02038199;AU139022;BC046242;BG999878;BM909530;BX537680;CD364485;CH471095;CT841508;HB900728;HC958137;KF457400;L13939;NM_001127;NM_001166019;NM_145730;U36267;U36268;Y07848 AAC50684;AAC98702;AAH46242;BAG57658;BAG59187;BAG61541;CAD97809;CAJ86438;CAK54367;CAK54666;CBF79614;CBU99115;EAW59798;EAW59799;EAW59800;NP_001118;NP_001159491;NP_663782;Q10567 Hs.368794 1685524;1705854;1717655;1816194;2011526;2011556;2135244;2218224;5117042 AP1B1__4319;ECD09137;GDB:386099;REN76685;REN76702;RH122132;RH17619;RH27786;SHGC-81187 ADTB1;AP105A;BAM22;CLAPB2 AP-1 complex subunit beta-1;Golgi adaptor HA1/AP1 adaptin beta subunit;OTTHUMP00000199165;OTTHUMP00000199166;OTTHUMP00000199168;adapter-related protein complex 1 subunit beta-1;adaptor protein complex AP-1 subunit beta-1;adaptor-related protein complex 1 subunit beta-1;beta-1-adaptin;beta-adaptin 1;beta-prime-adaptin;beta1-adaptin;clathrin assembly protein complex 1 beta large chain;plasma membrane adaptor HA2/AP2 adaptor beta subunit APPROVED protein-coding ENSG00000100280 HGNC:554 02541 600157 REVIEWED 1603491 AOX2P aldehyde oxidase 2 pseudogene INTERACTS WITH (+)-catechin 2 2 2 q33.1 195315326 195413857 + 201560446 201658946 + 200695723 200794223 + 6480464 11562361;16344560;20210993;20800603;22760553;23263164;8889549 344454 ABBA01062519;AC007163;AMYH02005541;AY245868;DB346520;JX431285;JX431286;NR_001557 Hs.148269 1696052;1780076;1784174;1847244 G31882;SHGC-154326;SHGC-155145;SHGC-83201 AOH2;AOX2 pseudo HGNC:18450 PROVISIONAL 1347850 AP1B1P1 adaptor-related protein complex 1, beta 1 subunit pseudogene 1 22 22 22 q12.3 16328763 16328953 + 32517964 32529456 + 32121977 32133469 + 10591208 23782 ABBA01055364;AMYH02038263;BM554504;NR_040114;Z83839 Hs.581098 1802840;1824170;2011508;2011510;2011512;2011514;2011516;2011518;2011520;2011522;2011524;2011526;2011528;2011534;2098330;2098332 ECD02308;ECD13181;REN76676;REN76677;REN76678;REN76679;REN76680;REN76681;REN76682;REN76683;REN76684;REN76685;REN76686;REN76689;stSG602548;stSG602549 ADTB1L1;dJ127L4.2 APPROVED pseudo ENSG00000234479 HGNC:297 VALIDATED 1350660 AP1B1P2 adaptor-related protein complex 1, beta 1 subunit pseudogene 2 22 22 22 q12.3 16330473 16330574 + 32530015 32530116 + 32134028 32134129 + 10591208 23781 ABBA01055364;AMYH02038263;NG_002624;Z83839 1831154;2011522;2011524;2011526;2011528;2011530;2011532;2011534;2011536;2011538;2011540;2011542;2011544;2011546;2098332;2098334 ECD16713;REN76683;REN76684;REN76685;REN76686;REN76687;REN76688;REN76689;REN76690;REN76691;REN76692;REN76693;REN76694;REN76695;stSG602549;stSG602550 ADTB1L2;dJ127L4.3 APPROVED pseudo HGNC:298 INFERRED 1346195 AP1G1 adaptor-related protein complex 1, gamma 1 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q23 56079081 56139681 - 71762903 71843006 - 71729000 71809073 - 1580863;6480464 10477754;10535737;10747088;10814529;11031247;11106728;11222723;11252894;11331585;11387476;11409905;11418592;11451993;11694590;11872161;11926829;11950833;12042876;12429846;12477932;12486136;12498786;12505986;12536145;12538641;12773381;14665628;14702039;15143060;15231748;15469849;15569716;15681409;15775984;16162817;16253302;16867982;17052248;17538020;17581864;18073204;18336259;19149577;19841138;19895210;19946888;20299515;20379614;20594957;21139048;21543478;21762802;21906983;22345475;22863883;22939629;23077317;23678182;23705972;23956138;24006255;24337577;24778252;24797263;24816145;7593184;8125298;9653655;9733768;9882340 164 B3KNW1;B3KXW5;B4DGE1;H3BN71;H3BN75;H3BNN2;H3BNR4;H3BPN9;H3BR36;H3BRM7;H3BS13;H3BUN9;H3BV30;O43747;Q8IY97 AB015317;ABBA01016782;ABBA01016783;ABBA01016784;ABBA01016785;AC009097;AC010653;AJ224112;AJ224113;AJ224114;AK025020;AK055122;AK128078;AK225906;AK293233;AK294546;AK299630;AK314484;AL110198;AMYH02032324;AMYH02032325;AMYH02032326;BC003414;BC036283;BC051747;BU902252;CH471166;NM_001030007;NM_001128;Y12226 AAH03414;AAH36283;ACE86968;ACE87658;BAA33389;BAG51473;BAG54627;BAG56772;BAG57752;BAG61558;CAA11832;CAA72902;CAB53673;EAW59222;EAW59223;EAW59224;NP_001025178;NP_001119;O43747 Hs.461253 1680801;1684764;1691172;2111394;2142453;2148206;2175481 D16S2532E;D16S3294;RH48231;RH65105;RH65224;SHGC-60759;SHGC-61470 ADTG;CLAPG1;MGC18255 AP-1 complex subunit gamma-1;adapter-related protein complex 1 subunit gamma-1;adaptor protein complex AP-1 subunit gamma-1;adaptor-related protein complex 1 subunit gamma-1;clathrin assembly protein complex 1 gamma large chain;clathrin assembly protein complex 1 gamma-1 large chain;clathrin-associated/assembly/adaptor protein, large, gamma 1;gamma adaptin;gamma1-adaptin;golgi adaptor HA1/AP1 adaptin gamma subunit;golgi adaptor HA1/AP1 adaptin subunit gamma-1 APPROVED protein-coding ENSG00000166747 HGNC:555 04637 603533 REVIEWED 1313902 AP1G2 adaptor-related protein complex 1, gamma 2 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is compsed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. Several alternatively spliced transcript variants of this gene exist, but their full-length nature is not known. [provided by RefSeq, Aug 2013] 14 14 14 q11.2 3891447 3899947 - 24028777 24038754 - 23559563 23569545 - 1580863;6480464 10477754;10814529;11222723;11333915;11463741;12477932;12486136;12505986;12836198;14665628;14702039;15231747;15681409;16253302;16713569;17553870;18029348;18336259;18772139;18854154;19149577;20594957;20708039;21139048;21658281;21762802;21890473;21906983;22103831;22345475;22505724;23000965;23077317;23455924;23678182;23705972;23956138;24250222;24654937;9733768;9736718;9762922;9811606;9811611;9882340 8906 G3V2V9;G3V3Z2;G3V532;H0YJ08;H0YJ47;O75843;Q86U03;Q86V28 AB015318;ABBA01061322;AF068706;AI497879;AK096034;AK123354;AK226158;AK304682;AK307696;AK309103;AK310451;AL135999;AMYH02028870;AW451370;BC051833;BG701521;BI918958;BQ073124;BX161425;BX247963;CH471078;H41406;NG_011937;NM_001282474;NM_001282475;NM_003917;XM_005268166;XM_005268167;XM_005268168;XM_005268169;XM_005268170;XM_005268171;XM_005268172;XM_005268173;XM_005268174;XM_005268175;XM_005268176;XM_005268177;XM_005268178;XM_005268179;XM_005268180;XM_005268181;XM_005268182;XM_006720301;XR_245729;XR_245730 AAC67390;AAH51833;BAA33390;BAG65453;CAD61898;CAD62302;EAW66132;EAW66134;EAW66138;NP_001269403;NP_001269404;NP_003908;O75843;XP_005268223;XP_005268224;XP_005268225;XP_005268226;XP_005268227;XP_005268228;XP_005268229;XP_005268230;XP_005268231;XP_005268232;XP_005268233;XP_005268234;XP_005268235;XP_005268236;XP_005268237;XP_005268238;XP_005268239;XP_006720364 Hs.343244;Hs.569375 1651525;1675005;2120685;2125461;2140713;2150164;2160768;2191125;7186288 A005Y33;D14S104E;D14S671E;HSC22E052;MARC_14914-14915:1012936331:1;RH15730;RH64872;SHGC-24169;STS-AA004314 G2AD AP-1 complex subunit gamma-like 2;OTTHUMP00000164599;OTTHUMP00000164600;clathrin-associated/assembly/adaptor protein, large, gamma-2;gamma2-adaptin APPROVED protein-coding ENSG00000213983 HGNC:556 04638 603534 REVIEWED 1348501 AP1S2 adaptor-related protein complex 1, sigma 2 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] X X X p22.2 19961411 19990500 - 15843929 15873137 - 15825806 15855014 - 1580863;6480464;7240710;8554872;8699517 10398241;10966473;11031247;11222723;11252894;11463741;11694590;12215646;12477932;12486136;12836198;15489334;15569716;15681409;16253302;17186471;17617514;18336259;18428203;19149577;19322201;2040623;20594957;21139048;21762802;21890473;22103831;22939629;23077317;23678182;23705972;23756445;24797263;9733768;9736718;9811606;9811611;9882340 8905 A6NH01;B7Z3M9;H0Y673;H7BZG6;P56377;Q549M9 AB015320;ABBA01071359;ABBA01071360;ABBA01071361;AC004106;AF087876;AF091077;AF251295;AK130075;AK296135;AK299921;AK302908;AK312594;AMYH02038920;BC001117;BC071867;BI462192;BT006738;BX537780;CH471074;DC401898;KF458988;NG_009274;NM_001272071;NM_003916;XM_005274612;XM_005274614;XR_247289;XR_247290;XR_247291 AAC72946;AAG44595;AAH01117;AAH71867;AAP35384;AAP97176;ABM81631;ABM84815;BAA33392;BAG61756;BAH12265;BAH13839;CAD97839;EAW98903;EAW98904;EAW98905;EAW98906;EAW98907;EAW98908;NP_001259000;NP_003907;P56377;XP_005274669;XP_005274671 Hs.121592 1683843;1685295;1694720;1701480;2132226;2139708;2153372;2174053;2179443;2218226 AP1S2__4320;G43551;RH104372;RH16361;RH17799;RH26746;RH47344;RH47350;RH66697;RH91863 DC22;MGC:1902;MRX59;MRXS21;MRXS5;MRXSF;PGS;SIGMA1B AP-1 complex subunit sigma-2;OTTHUMP00000022979;OTTHUMP00000022980;OTTHUMP00000022981;OTTHUMP00000022982;Pettigrew X-linked mental retardation syndrome;adapter-related protein complex 1 sigma-1B subunit;adapter-related protein complex 1 subunit sigma-1B;adaptor protein complex AP-1 sigma-1B subunit;adaptor protein complex AP-1 subunit sigma-1B;adaptor-related protein complex 1 subunit sigma-1B;clathrin adaptor complex AP1 sigma 1B subunit;clathrin assembly protein complex 1 sigma-1B small chain;clathrin-associated/assembly/adaptor protein small 1-like;golgi adaptor HA1/AP1 adaptin sigma 1B subunit;golgi adaptor HA1/AP1 adaptin sigma-1B subunit;mental retardation, X-linked, syndromic 5;sigma 1B subunit of AP-1 clathrin;sigma-adaptin 1B;sigma1B-adaptin APPROVED protein-coding ENSG00000182287 HGNC:560 04636 300629;304340 REVIEWED 1314769 AP2A1 adaptor-related protein complex 2, alpha 1 subunit This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 47139637 47179822 + 50270180 50310369 + 49766923 49807112 + 1580863;6480464;6484113;6907045;8554872 10336464;10436022;10551776;10567358;10764745;10953014;10966473;11157096;11170396;11230166;11302736;11331585;11423532;11447109;11517213;11532990;11598180;11723124;12036598;12057195;12364336;12429846;12477932;12577067;12595566;12646615;12775724;12942088;14517991;14702039;15020715;15057824;15231748;15489334;15862967;16055064;16055720;16103193;16139856;16169070;16497223;16696976;16709866;17108326;17560945;17581864;17620599;18032517;18178234;18524831;18781797;19116314;19129443;19380743;19738201;19802344;19946888;20012524;2014052;20360068;20594957;21139048;21762802;21880590;21890473;21906983;22262466;22323290;22360420;22623428;22678362;22939629;22952844;23077317;23151229;23305486;23705972;23751493;23874206;23956138;24255178;24332808;24797263;24816145;25027693;2564002;7593184;7791877;8617812;8662627;9049247;9182529;9259551;9280305;9651214;9723620;9882340 160 M0R2D9;O95782 ABBA01032909;AC006942;AC011495;AC098783;AF289221;AK094317;AK124343;AK302005;AL136925;AMYH02036331;AMYH02036332;BC014214;CH471177;NM_014203;NM_130787 AAD15564;AAH14214;AAL11039;AAL11040;ABM83179;ABM86380;BAC04329;BAG63408;CAB66859;EAW52535;EAW52536;EAW52537;NP_055018;NP_570603;O95782 Hs.467125 1687868;1697464;1728923;2109043;2126116;2191055;2191447 AP2A1__4334;Ap2a1;MARC_13831-13832:1006881711:1;MARC_23449-23450:1027106382:1;RH102233;RH75669;STS-AA031950 AP2-ALPHA;CLAPA1 100 kDa coated vesicle protein A;ADTAA;AP-2 complex subunit alpha-1;adapter-related protein complex 2 alpha-1 subunit;adapter-related protein complex 2 subunit alpha-1;adaptin, alpha A;adaptor protein complex AP-2 subunit alpha-1;adaptor-related protein complex 2 subunit alpha-1;alpha-adaptin A;alpha1-adaptin;clathrin assembly protein complex 2 alpha-A large chain;clathrin-associated/assembly/adaptor protein, large, alpha 1;plasma membrane adaptor HA2/AP2 adaptin alpha A subunit APPROVED protein-coding ENSG00000196961 HGNC:561 03016 601026 REVIEWED 1354372 AP1M2 adaptor-related protein complex 1, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 19 19 19 p13.2 10578090 10592733 - 10683347 10697991 - 10572671 10587315 - 1580863;6480464;8554872 10338135;10535737;10640811;10887964;11031247;11157985;11222723;11252894;11573956;11694590;12010461;12086608;12134076;12477932;14702039;15182197;15489334;15569716;16189514;16343431;16574660;17145811;17207965;17220478;17261850;17381423;18356317;21048031;21139048;21163940;21762802;21890473;21906983;23000965;23077317;23705972;23956138;7569928;8125298;8810314;9714795;9794796;9882340 10053 K7EJJ1;K7EK69;K7EL08;K7EMG5;K7EPI9;K7EPR4;K7ERH5;Q9Y6Q5 ABBA01029910;ABBA01029911;ABBA01029912;AC011475;AF020797;AK023863;AK222946;AK315689;AMYH02035499;AW370781;BC003387;BC003612;BC005021;BE044092;CH471106;NM_001300887;NM_005498;XM_005259701 AAD25870;AAH03387;AAH03612;AAH05021;ADQ31755;BAD96666;BAG38052;BAG51230;EAW84124;EAW84125;NP_001287816;NP_005489;Q9Y6Q5;XP_005259758 Hs.18894 1653301;1699356;2109041;2181521 AP1M2_9035;D18S389;RH103265;STS-R00451 AP1-mu2;HSMU1B;MU-1B;MU1B;mu2 AP-1 complex subunit mu-2;AP-mu chain family member mu1B;HA1 47 kDa subunit 2;adaptor protein complex AP-1 mu-2 subunit;adaptor protein complex AP-1 subunit mu-2;adaptor-related protein complex 1 mu-2 subunit;adaptor-related protein complex 1 subunit mu-2;clathrin assembly protein complex 1 medium chain 2;clathrin assembly protein complex 1 mu-2 medium chain 2;clathrin coat assembly protein AP47 2;clathrin coat associated protein AP47 2;clathrin-associated adaptor medium chain mu2;golgi adaptor AP-1 47 kDa protein;golgi adaptor HA1/AP1 adaptin mu-2 subunit;mu-adaptin 2;mu1B-adaptin APPROVED protein-coding ENSG00000129354 HGNC:558 06296 607309 REVIEWED 1323403 AP1S3 adaptor-related protein complex 1, sigma 3 subunit This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 2 2 2 q36.1 218385952 218468228 - 224616403 224702319 - 223755330 223837602 - 1580863;6480464;8554872 11031247;11222723;11252894;11463741;11598180;11694590;12477932;12486136;12836198;15489334;15569716;15681409;16253302;20379614;2040623;21762802;21906983;21988832;23077317;23575750;23678182;23705972;24791904;9736718;9811606;9811611;9882340 130340 B8ZZZ1;C9JZK4;F8W8K9;G5E966;Q96PC3 ABBA01023786;ABBA01023787;ABBA01023788;ABBA01023789;ABBA01023790;ABBA01023791;ABBA01023792;AC012512;AC093884;AF393369;AK025338;AK299026;AMYH02005878;BC009606;BC021898;BE856458;BG177582;BG340480;CH471063;NG_034017;NM_001039569;NR_110905;NR_110906 AAH09606;AAH21898;AAL09586;AAY24166;AAY24244;BAG61103;EAW70813;EAW70814;EAW70815;EAW70816;NP_001034658;Q96PC3 Hs.632555 1337160;1337768;1659300;1759557;5015861;5015961;5016478;5020881;5020946;5022322;5022578;5037552;5109362;7185938 D10S16;D11S2560;D15S1477;D17S1239;D1S1423;D2S133;D2S2228;D8S2279;G16350;GDB:434012;L17709;L17971;SHGC-150747 AP-1 complex subunit sigma-3;OTTHUMP00000164217;OTTHUMP00000213995;OTTHUMP00000229293;adapter-related protein complex 1 sigma-1C subunit;adapter-related protein complex 1 subunit sigma-1C;adaptor protein complex AP-1 sigma-1C subunit;adaptor protein complex AP-1 subunit sigma-1C;adaptor-related protein complex 1 subunit sigma-1C;clathrin assembly protein complex 1 sigma-1C small chain;golgi adaptor HA1/AP1 adaptin sigma-1C subunit;sigma 1C adaptin;sigma 1C subunit of AP-1 clathrin;sigma-adaptin 1C;sigma1C-adaptin protein-coding HGNC:18971 16495 615781 REVIEWED 1316969 AP1M1 adaptor-related protein complex 1, mu 1 subunit The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 16210670 16249248 + 16308665 16346156 + 16197854 16235345 + 1580863;6480464;6484113 10535737;10747088;10809756;10814565;10887964;11031247;11106728;11157985;11208076;11222723;11247301;11252894;11463741;11583591;11591131;11598115;11694590;12010461;12477932;12486136;12836198;14608369;14691137;14702039;15174051;15182197;15254094;15489334;15569716;15681409;16189514;16253302;17538020;17581864;17988225;18057255;18073204;18336259;19056867;19060904;19149577;19841138;19946888;20012524;20020046;20594957;20833140;21139048;21762802;21841072;21890473;21906983;21917951;22004035;22103831;22190034;22301137;22505724;22705789;22767237;22797925;22863883;22939629;23000965;23077317;23478262;23678182;23705972;23956138;24250222;24778252;24797263;24816145;25027693;7569928;7593184;8810314;8889548;9052838;9314527;9400603;9564030;9586638;9653655;9736718;9811606;9811611;9812899;9882340 8907 B3KNH5;B4DDG7;E7ENJ6;K7EJL1;K7ENA7;K7EPJ8;K7EQ90;K7EQX3;K7ER75;Q59EK3;Q9BXS5 AB209808;ABBA01051134;ABBA01051135;ABBA01051136;AC020911;AF290613;AK027528;AK293188;AK297824;AMYH02035673;AMYH02035674;AMYH02035675;BC017469;BQ014582;BU729646;CH471106;DC386056;DQ059565;NM_001130524;NM_032493 AAH17469;AAK28024;AAY54246;BAD93045;BAG51337;BAG56728;BAG60161;EAW84539;EAW84540;NP_001123996;NP_115882;Q9BXS5 Hs.71040 2144367;2144597;5093170 A009I07;G32561;RH15920 AP47;CLAPM2;CLTNM;MU-1A AP-1 complex subunit mu-1;AP-mu chain family member mu1A;HA1 47 kDa subunit;adapter-related protein complex 1 subunit mu-1;adaptor protein complex AP-1 mu-1 subunit;adaptor protein complex AP-1 subunit mu-1;adaptor-related protein complex 1 mu-1 subunit;adaptor-related protein complex 1 subunit mu-1;clathrin adaptor protein AP47;clathrin assembly protein complex 1 medium chain 1;clathrin assembly protein complex 1 mu-1 medium chain 1;clathrin assembly protein complex 1, medium chain;clathrin assembly protein complex AP1, mu subunit;clathrin coat assembly protein AP47;clathrin coat-associated protein AP47;golgi adaptor AP-1 47 kDa protein;golgi adaptor HA1/AP1 adaptin mu-1 subunit;mu-adaptin 1;mu1A-adaptin APPROVED protein-coding ENSG00000072958 HGNC:13667 04639 603535 REVIEWED 735567 AP2A2 adaptor-related protein complex 2, alpha 2 subunit ENCODES a protein that exhibits protein kinase binding (ortholog); INVOLVED IN antigen processing and presentation of exogenous peptide antigen via MHC class II (inferred); axon guidance (inferred); endocytosis (inferred); PARTICIPATES IN endocytosis pathway; Huntington disease pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN clathrin adaptor complex (inferred); clathrin-coated endocytic vesicle membrane (inferred); coated pit (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; diazinon; elemental selenium 11 11 11 p15.5 993301 1080635 + 925809 1012245 + 925809 1012245 + 1580863;6480464;6907045;8554872 10048485;10430869;10477754;10567358;10608806;10748223;10809762;10910768;10966473;11157096;11247302;11470803;11707398;12036598;12057195;12086608;12168954;12477932;14530274;14702039;15020715;15231748;15489334;16055064;16103193;16139856;16902404;17052248;17108326;17203073;17210199;17581864;17620599;18032517;18362181;19129443;19359243;19380743;19738201;19802344;20012524;2014052;20594957;20811636;20965945;21139048;21762802;21832049;21890473;21906983;21963094;22103831;22323290;22360420;22939629;22952844;23077317;23383273;23398456;23705972;23956138;24162737;24255178;24332808;24797263;24816145;25027693;2564002;8125298;8552632;8617812;8662627;8889548;9049247;9195986;9280305;9700202;9723620;9882340 161 E9PNC4;E9PPY8;E9PPZ3;E9PQP4;E9PR62;E9PS94;H0YDE9;H0YEG0;O94973 AB020706;AB209422;ABBA01015215;ABBA01015216;ABBA01015217;ABBA01015218;AC208587;AC226006;AC239872;AF049527;AK001986;AK027640;AK027891;AK075497;AK094496;AK095725;AK223558;AK293763;AK299364;AL117614;AMYH02024155;AMYH02024156;AMYH02024157;AP006477;AP006623;BC006155;BG705558;BI462785;BU735076;CH471158;DB461570;NM_001242837;NM_012305;XM_006718159;XM_006718160;XR_242779 AAC27505;AAH06155;ABM84367;ABM87778;BAA74922;BAB55435;BAC11653;BAD92659;BAD97278;BAG50999;BAH11590;BAH13015;CAB56015;EAX02416;EAX02417;EAX02418;EAX02419;NP_001229766;NP_036437;O94973;XP_006718222;XP_006718223 Hs.19121 1648133;1671317;1709554;2161069;5014051;5022200;5022651;5024039;5037552 D11S2921;D16S325;D8S2278;D8S2279;G09846;L18426;RH48949;SHGC-81865;STS-W67158 CLAPA2;FLJ37177;HIP-9;HIP9;HYPJ 100 kDa coated vesicle protein C;ADTAB;AP-2 complex subunit alpha-2;Huntingtin interacting protein J;OTTHUMP00000230509;OTTHUMP00000230600;OTTHUMP00000230602;adapter-related protein complex 2 alpha-2 subunit;adapter-related protein complex 2 subunit alpha-2;adaptin, alpha B;adaptor protein complex AP-2 subunit alpha-2;adaptor protein complex ap-2, alpha 2 subunit;adaptor-related protein complex 2 subunit alpha-2;alpha-adaptin C;alpha2-adaptin;clathrin assembly protein complex 2 alpha-C large chain;clathrin-associated/assembly/adaptor protein, large, alpha 2;huntingtin yeast partner J;huntingtin-interacting protein 9;huntingtin-interacting protein J;plasma membrane adaptor HA2/AP2 adaptin alpha C subunit protein-coding ENSG00000183020 HGNC:562 06256 607242 VALIDATED 732482 AP2S1 adaptor-related protein complex 2, sigma 1 subunit One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 19 19 19 q13.2-q13.3 44145679 44158458 - 47341423 47354203 - 46838166 46850946 - 1580863;737778;6480464;6907045;7240710;8554872;8699517 9466969 10567358;10753805;11157096;12086608;12477932;12577067;15020715;15489334;16055064;16103193;16139856;17108326;17210199;17353931;19380743;19738201;20012524;2014052;2040623;21139048;21762802;21890473;21906983;21963094;21987572;21988832;22505724;22623428;23000965;23077317;23151229;23222959;23751493;23874206;24423332;24708097;24731014;24797263;24816145;2495531;7593184;9040778;9767099;9882340 1175 M0QYZ2;M0QZ21;M0R0N4;M0R1S0;P53680;X6R390 ABBA01040989;ABBA01040990;AC008622;AC008895;AC098794;AI139089;AJ010148;AJ010149;AJ713543;AK312003;AMYH02036237;BC006337;BF970609;BG282225;BI561502;BQ221562;BQ684675;BU564736;CA454481;CB108423;CH471126;DB472500;H46780;NG_033136;NM_001301076;NM_001301078;NM_001301081;NM_004069;NM_021575;X97074;XM_005258499;XM_005258500;XM_006723004 AAH06337;ADZ15785;BAG34941;CAA09018;CAA09019;CAA65782;EAW57448;EAW57449;NP_001288005;NP_001288007;NP_001288010;NP_004060;NP_067586;P53680;XP_005258556;XP_005258557;XP_006723067 Hs.119591 1653053;1685874;1725569;1847336 G62010;RH47043;RH80522;STS-X97074 AP17;AP17-DELTA;CLAPS2;FBH3;FBHOk;HHC3 AP-2 complex subunit sigma;HA2 17 kDa subunit;adapter-related protein complex 2 sigma subunit;adapter-related protein complex 2 subunit sigma;adaptor protein complex AP-2 subunit sigma;adaptor-related protein complex 2 subunit sigma;clathrin assembly protein 2 sigma small chain;clathrin assembly protein 2 small chain;clathrin coat assembly protein AP17;clathrin coat-associated protein AP17;clathrin-associated/assembly/adaptor protein, small 2 (17kD);hypocalciuric hypercalcemia 3 (Oklahoma type);plasma membrane adaptor AP-2 17 kDa protein;sigma2-adaptin APPROVED protein-coding ENSG00000042753 HGNC:565 03762 600740;602242 REVIEWED 1350921 AP2M1 adaptor-related protein complex 2, mu 1 subunit This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q28 182334345 182343591 + 183892634 183901879 + 184174846 184184091 + 6480464;6484113;6907045 10567358;10593987;10747088;10814565;10887964;10910768;11031247;11157096;11222723;11247302;11285224;11454741;11583591;11591131;11742978;12010461;12032142;12057195;12086608;12421765;12477932;12577067;12621057;12644451;12646615;12952941;15020715;15182197;15254094;15489334;15604093;15611114;15647482;15778375;15911768;15916959;16055064;16103193;16116206;16139856;16189514;16263766;16498080;16501101;16713569;16723738;16880396;16902404;17108326;17108328;17210199;17220478;17267500;17289840;17290396;17666399;17984062;18032517;18056411;18187620;18474601;18523139;18524831;18596106;19056867;19380743;19419997;19478868;19578796;19581412;19738201;19895210;19903820;20012524;20029029;2014052;20186120;20360068;20368287;20485680;20639872;20965945;21078624;21139048;21145461;21182205;21762802;21890473;21906983;21963094;21987572;21988832;22004035;22082156;22103831;22323290;22363329;22472876;22623428;22797925;22916011;23000965;23077317;23125841;23529131;23751493;23864651;23874206;23891661;23956138;24040105;24250222;24797263;24816145;7569928;7593184;7788527;7989329;8257432;8491205;8595912;9013859;9200449;9256472;9400603;9571248;9651214;9812899;9882340 1173 C9JGT8;C9JJ47;C9JJD3;C9JPV8;C9JTK4;E9PFW3;H7C4C3;Q96CW1 ABBA01058455;AC131235;AK057883;AK294159;AK295999;AK297578;AK297849;AK300228;AK304510;AK310409;AMYH02008301;BC004996;BC013796;BC014030;BI461415;BT007308;CH471052;D63475;FB336127;HH767466;NM_001025205;NM_004068;U36188 AAA93254;AAH04996;AAH13796;AAH14030;AAP35972;ABM83802;ABM86841;BAA09762;BAG57482;BAG58773;BAG60181;BAG61996;BAG65316;BAH12618;CAR81017;CBX84495;EAW78290;EAW78291;EAW78292;NP_001020376;NP_004059;Q96CW1 Hs.518460 1670513;1673534;1676212;1735168;1775349;1776302;1858134;2107837;2115021;2116456;2191019 AP2M1_8258;D3S2818E;IB1255;IB397;MARC_13450-13451:1002298269:1;RH92621;SHGC-7485;SHGC-77602;SHGC-77604;STS-R80399;UTR-04950 AP50;CLAPM1;mu2 AP-2 complex subunit mu;AP-2 mu 2 chain;AP-2 mu chain;HA2 50 kDA subunit;OTTHUMP00000210694;OTTHUMP00000210695;OTTHUMP00000210696;OTTHUMP00000210697;OTTHUMP00000210701;adapter-related protein complex 2 mu subunit;adapter-related protein complex 2 subunit mu;adaptin-mu2;adaptor protein complex AP-2 subunit mu;adaptor-related protein complex 2 subunit mu;clathrin adaptor complex AP2, mu subunit;clathrin assembly protein complex 2 medium chain;clathrin assembly protein complex 2 mu medium chain;clathrin coat adaptor protein AP50;clathrin coat assembly protein AP50;clathrin coat-associated protein AP50;clathrin-associated/assembly/adaptor protein, medium 1;plasma membrane adaptor AP-2 50 kDa protein;plasma membrane adaptor AP-2 50kDA protein APPROVED protein-coding ENSG00000161203 HGNC:564 03014 601024 REVIEWED 1319021 AP3B2 adaptor-related protein complex 3, beta 2 subunit Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006 [PubMed 16788073]).[supplied by OMIM, Mar 2008] 15 15 15 q 61202181 61252080 + 83328033 83378660 - 82659281 82709908 - 1580863;6480464 10930456;11877451;12477932;12565890;14702039;15489334;16788073;17453999;17620599;18029348;18076669;1851215;19481122;20467438;20531441;23118302;23305486;24816145;7671305;9118953;9545220;9707615 8120 F5GWU4;F5GYB0;H0YH30;Q13367 ABBA01029418;ABBA01029419;ABBA01029420;ABBA01029421;ABBA01029422;ABBA01029423;AC105339;AF022152;AK097827;AK294331;AMYH02030910;AMYH02030911;AMYH02030912;AMYH02030913;BC008350;BC026700;BC035640;BC093739;BC143342;BC143346;BI914720;BQ777385;CH471188;CR749860;DQ092369;FJ695193;NM_001278511;NM_001278512;NM_004644;U37673;XM_006720704;XM_006720705;XM_006720706 AAB71894;AAC50219;AAH93739;AAI43343;AAI43347;AAZ38147;BAG53536;BAG57603;CAH18704;EAW62447;NP_001265440;NP_001265441;NP_004635;Q13367;XP_006720767;XP_006720768;XP_006720769 Hs.199593 1768258;1846633;2139561 RH66690;WI-21100;WI-22674 DKFZp686D17136;NAPTB AP-3 complex subunit beta-2;Neuronal adaptin-like protein, beta-subunit;OTTHUMP00000237554;OTTHUMP00000237555;OTTHUMP00000237556;adapter-related protein complex 3 subunit beta-2;adaptor protein complex AP-3 subunit beta-2;adaptor-related protein complex 3 subunit beta-2;beta-3B-adaptin;clathrin assembly protein complex 3 beta-2 large chain;neuron-specific vesicle coat protein beta-NAP APPROVED protein-coding ENSG00000103723 HGNC:567 03699 602166 VALIDATED 734047 AP2B1 adaptor-related protein complex 2, beta 1 subunit The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q11.2-q12 30824398 30963574 + 33913918 34053436 + 35586899 35726417 + 6480464;6907045 10097102;10567358;10748223;10944104;10966473;11157096;11170396;11285224;11463741;11777907;12070169;12086608;12221107;12419313;12429842;12429846;12477932;12577067;12732633;12900408;14530274;15020715;15489334;15533940;15592455;15761153;15897975;16055064;16103193;16139856;16189514;16314522;16581796;16903783;17052248;17108326;17210199;17267500;17290217;17353931;17620599;18654987;18781797;18843039;19149577;19380743;19469909;19509056;19615732;1969413;19738201;19802344;19903820;19946888;20012524;2014052;20360068;20594957;20936779;20965945;21118812;21139048;21145461;21252943;21762802;21890473;21906983;21963094;21987572;22103831;22139419;22323290;22360420;22558309;22586326;22623428;22632162;22678362;22863883;23000965;23077317;23705972;23751493;23862649;23874206;23956138;24332808;24654937;24722188;24797263;24816145;25027693;25061211;8262066;8595912;9341158;9384576;9651214;9707615;9811611;9882340 163 K7EJ01;K7EJX1;K7EKZ5;K7EMN7;K7EN71;K7ERB2;P63010;Q96EL6 ABBA01011230;ABBA01011231;ABBA01011232;ABBA01011233;ABBA01011234;AC004134;AC006237;AC015911;AI691147;AK289528;AK292531;AK295667;AK301522;AK304126;AMYH02033350;AMYH02033351;AY341427;BC006201;BC012150;BQ421703;BX643620;CH471147;CR749392;KF456264;KF456265;M34175;NM_001030006;NM_001282;XM_005257937;XM_005257938;XM_005257941 AAA35583;AAH06201;AAH12150;AAQ20044;ABM84208;ABM87612;BAF82217;BAF85220;BAG58527;BAG63026;BAG65023;CAH18240;EAW80133;EAW80134;EAW80135;EAW80136;EAW80137;EAW80138;EAW80139;EAW80140;EAW80141;EAW80142;NP_001025177;NP_001273;P63010;XP_005257994;XP_005257995;XP_005257998 Hs.514819 1654301;1657567;1674652;1721585;1729233;2118925;2128032;2129493;2144472;2170233;2180156;2186017;2190777;2191675;5127569;5491942 AP2B1-1;CLAPB1;D17S1669;D17S1690;D17S2061;G59802;G62209;IB756;MARC_4629-4630:966894533:1;RH12574;RH47464;SGC44707;SHGC-52481;SHGC-57242;STS-W92018;WI-18136 ADTB2;AP105B;AP2-BETA;CLAPB1;DKFZp781K0743 AP-2 complex subunit beta;adapter-related protein complex 2 beta subunit;adapter-related protein complex 2 subunit beta;adaptin, beta 2 (beta);adaptor protein complex AP-2 subunit beta;adaptor-related protein complex 2 subunit beta;beta-2-adaptin;beta-adaptin;clathrin assembly protein complex 2 beta large chain;clathrin-associated/assembly/adaptor protein, large, beta 1;plasma membrane adaptor HA2/AP2 adaptin beta subunit APPROVED protein-coding ENSG00000006125 HGNC:563 03015 601025 REVIEWED 1314226 AP1S1 adaptor-related protein complex 1, sigma 1 subunit The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 95806042 95812913 + 100797685 100804557 + 101154405 101161276 + 6480464;7240710;8699517;8554872 10535737;10747088;10966473;11031247;11222723;11252894;11463741;11694590;11707398;12215646;12477932;12486136;12836198;12853948;15469849;15489334;15569716;15681409;16253302;16548883;17353931;18336259;18781797;19057675;19149577;19895210;19946888;2040623;20594957;21139048;21762802;21906983;21963094;21987572;22103831;22939629;23000965;23077317;23423674;23678182;23956138;24250222;24797263;7593184;9653655;9733768;9736718;9811606;9811611;9847074;9882340 1174 H7C1E4;P61966 AB015319;ABBA01011349;AC004876;AK312151;AMYH02016400;BC003561;BI597121;BI598615;BI857465;BT006779;CH471197;NG_033082;NM_001283 AAD45829;AAH03561;AAP35425;BAA33391;BAG35085;EAW50198;EAW50199;EAW50200;NP_001274;P61966 Hs.489365 2127513 RH71410 AP19;CLAPS1;EKV3;FLJ92436;SIGMA1A;WUGSC:H_DJ0747G18.2 AP-1 complex subunit sigma-1A;HA1 19 kDa subunit;MEDNIK;OTTHUMP00000211467;OTTHUMP00000211468;OTTHUMP00000211469;adapter-related protein complex 1 sigma-1A subunit;adapter-related protein complex 1 subunit sigma-1A;adaptor protein complex AP-1 sigma-1A subunit;adaptor protein complex AP-1 subunit sigma-1A;adaptor-related protein complex 1 subunit sigma-1A;clathrin assembly protein complex 1 sigma-1A small chain;clathrin coat assembly protein AP19;clathrin-associated/assembly/adaptor protein, small 1 (19kD);erythrokeratodermia variabilis 3 (Kamouraska type);golgi adaptor HA1/AP1 adaptin sigma-1A subunit;sigma 1a subunit of AP-1 clathrin;sigma-adaptin 1A;sigma1A subunit of AP-1 clathrin adaptor complex;sigma1A-adaptin APPROVED protein-coding ENSG00000106367 HGNC:559 04635 603531;609313 REVIEWED 1318559 AP3D1 adaptor-related protein complex 3, delta 1 subunit The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 19 19 19 p13.3 2035746 2085826 - 2100987 2151556 - 2100988 2151620 - 1580863;6480464 10559961;10814565;11331585;11926829;12477932;12486136;12853575;12967569;14657250;14702039;15057824;15469849;15489334;15681409;15766529;16162817;16457822;17081983;17210199;17349999;17620599;17897319;18034776;18076669;18775314;19481122;19851296;19946888;20012524;20198315;20379614;20594957;21139048;21841072;21890473;21963094;22004035;22103831;22363329;22705971;22833563;22863883;22875976;22939629;22952844;23125841;23305486;24797263;24816145;25027693;8889548;9151686;9182526;9303295;9482728;9697856 8943 K7ELX8;K7ERW8;O14617 AB208804;ABBA01002710;AC005257;AC005328;AC005545;AF002163;AF130042;AK094460;AK128692;AK310099;AK315899;AMYH02035184;AY954498;BC005142;BC010065;BC022837;BM982261;BQ227203;CH471139;NM_001261826;NM_003938;U91930;XM_006722932 AAC25623;AAC27670;AAC34212;AAC34214;AAC51761;AAD03777;AAG35473;AAH05142;AAH10065;ADZ15549;BAD92041;BAF98790;BAG52868;EAW69412;EAW69416;NP_001248755;NP_003929;O14617;XP_006722995 Hs.512815 1676744;1683805;1789358;2131775;2186790;2186792 A002D02;G19943;G67894;RH93528;SHGC-23975;WI-19632 ADTD;hBLVR AP-3 complex delta subunit, partial CDS;AP-3 complex subunit delta;AP-3 complex subunit delta-1;adapter-related protein complex 3 subunit delta-1;adaptin, delta;adaptor-related protein complex 3 subunit delta-1;delta adaptin;delta-adaptin, partial CDS;subunit of putative vesicle coat adaptor complex AP-3 APPROVED protein-coding ENSG00000065000 HGNC:568 06260 607246 VALIDATED 734238 AP3M1 adaptor-related protein complex 3, mu 1 subunit The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 10 10 10 q22.2 69165286 69196141 - 75880015 75910826 - 74120257 74151068 - 1580863;6480464 10024875;10737800;10814565;11071902;11463741;11742978;11827452;12477932;12853575;14702039;15254094;15342556;15489334;15681409;16385451;17897319;18076669;19116314;19481122;19615732;20012524;20594957;21139048;21890473;21963094;22103831;22797925;22833563;22863883;22875976;22952844;23000965;23305486;23404500;23704328;24797263;8889548;9182526;9482728;9714600;9794796 26985 B4DRN6;Q8NDP0;Q9Y2T2 ABBA01020295;AC012046;AC022026;AC022540;AC091699;AF092092;AI610802;AK001565;AK026983;AK299352;AK315597;AL133610;AL357037;AL731576;AL833820;AMYH02023344;AMYH02023345;AV722897;AW069033;BC026232;BC067127;BE706537;BM463185;BP230128;BU172918;BU430175;BU679701;CH471083;FB336129;HH767468;NM_012095;NM_207012;XM_006717763;XM_006717764 AAD20446;AAH26232;AAH67127;ABM84038;ABM87385;ABW03569;BAB15614;BAG61348;CAD38682;CAR81018;CBX84496;EAW54552;EAW54553;EAW54554;NP_036227;NP_996895;Q9Y2T2;XP_006717826;XP_006717827 Hs.500104 2166027;2173597;5015961;5037552 D10S2342;D15S1477;D8S2279;WI-11846 MGC22164;RP11-178G16.4 AP-3 adapter complex mu3A subunit;AP-3 adaptor complex mu3A subunit;AP-3 complex subunit mu-1;OTTHUMP00000019859;OTTHUMP00000019860;adapter-related protein complex 3 mu-1 subunit;adapter-related protein complex 3 subunit mu-1;adaptor-related protein complex 3 subunit mu-1;adaptor-related protein complex ap-3, mu 1 subunit;clathrin adaptor complex AP3, mu-3A subunit;mu-adaptin 3A;mu3A-adaptin APPROVED protein-coding ENSG00000185009 HGNC:569 16496 610366 REVIEWED 1321051 AP3B1 adaptor-related protein complex 3, beta 1 subunit This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012] 5 5 5 q14.1 73192009 73483332 - 77298150 77590579 - 78002326 78294755 - 1580863;1578409;6480464;7240710;8554872;8699517 12125811 10024875;11809908;11877451;11926829;12062430;12419313;12477932;14657250;15489334;16112646;16344560;16537806;16551969;17081983;17353931;17569884;17622474;17897319;17975119;18000860;18076669;18410487;18781797;19023099;19246570;19320733;19481122;19679886;19841138;19913121;19934039;19946888;20133826;20301464;20379614;20628086;21139048;21890473;21901158;21906983;22863883;22875976;22939629;22952844;23000965;23144738;24250222;24816145;8125298;8413179;9151686;9182526;9545220;9931340 8546 H0YBD0;O00203 ABBA01061990;ABBA01061991;ABBA01061992;ABBA01061993;ABBA01061994;AC024568;AC024578;AC104108;AC112197;AF247736;AK225908;AK291201;AK303300;AL708147;AMYH02011625;AMYH02011626;AMYH02011627;AY623424;BC020230;BC038444;BX538041;CH471084;DA889915;NG_007268;NM_001271769;NM_003664;U81504;U91931;XM_005248618;XM_005248619 AAB61638;AAD03778;AAG01739;AAH38444;AAT49048;ABM85841;ABW03740;BAF83890;BAG64374;CAD97982;EAW95811;EAW95812;EAW95813;NP_001258698;NP_003655;O00203;XP_005248675;XP_005248676 Hs.532091 1646877;1654848;1705370;1709526;1728085;1785706;2109045;2146083;5122050 1842;A002S29;AP3B1_8826;G63314;L31442;RH16414;SHGC-79370;SHGC-81837;SHGC-83541 ADTB3;ADTB3A;HPS;HPS2;PE AP-3 complex beta-3A subunit;AP-3 complex subunit beta-1;OTTHUMP00000133884;OTTHUMP00000222448;adapter-related protein complex 3 subunit beta-1;adaptor protein complex AP-3 subunit beta-1;adaptor-related protein complex 3 subunit beta-1;beta-3A-adaptin;beta3A-adaptin;clathrin assembly protein complex 3 beta-1 large chain APPROVED protein-coding ENSG00000132842 HGNC:566 04551 603401;608233 REVIEWED 1350010 AP3S2 adaptor-related protein complex 3, sigma 2 subunit ENCODES a protein that exhibits protein transporter activity (inferred); INVOLVED IN anterograde axon cargo transport (ortholog); anterograde synaptic vesicle transport (ortholog); FOUND IN AP-3 adaptor complex; INTERACTS WITH copper(2+) sulfate; isotretinoin; pirinixic acid 15 15 15 q26.1 66776618 66840633 - 90373831 90437617 - 89830599 89894385 - 1580863;6480464 11907283;11926829;12019270;12477932;12967569;14702039;15469849;15489334;16344560;18076669;20012524;20966410;21139048;21874001;21906983;21963094;21987572;21988832;22505724;23945395;8125298;9118953;9182526 10239 H0YKM3;H0YLI7;H0YLX6;H0YN38;H0YNI6;P59780 ABBA01053027;ABBA01053028;ABBA01053029;AC018988;AC027176;AK222698;AK294712;AK312467;AL109702;AL110108;AMYH02031028;AMYH02031029;AW402906;BC002785;BC007773;BC010020;BC010615;BX098014;CH471101;DA268327;DA337392;DA464242;DA752479;DA777624;DB322370;DC340463;DC410373;DR158459;NM_005829;NR_023361;NR_037582;X99459 AAH02785;AAH07773;AAH10020;ABM83908;ABM87229;BAD96418;BAG35374;BAG57864;CAA67824;EAX02071;EAX02072;EAX02073;EAX02074;EAX02075;NP_005820;P59780 Hs.632161 1336932;1767579;2112970;2161595;2165051;2183352;5016851;5022200;5022578;5022651;5037552 D11S2921;D15S1443E;D15S526;D1S1423;D8S2279;G17841;L18426;RH11326;RH80031;WI-15468;WI-20835 AP3S3;FLJ35955;sigma3b AP-3 complex sigma-3B subunit;AP-3 complex subunit sigma-2;AP-3 complex subunit sigma-3B;OTTHUMP00000194687;adapter-related protein complex 3 sigma-2 subunit;adapter-related protein complex 3 subunit sigma-2;adaptor complex sigma3B;adaptor-related protein complex 3 subunit sigma-2;clathrin-associated/assembly/adaptor protein, small 4, 22-kD;sigma-3B-adaptin;sigma-adaptin 3b;sigma3B-adaptin protein-coding ENSG00000157823 HGNC:571 03880 602416 VALIDATED 1321485 AP4B1 adaptor-related protein complex 4, beta 1 subunit This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 1 p13.2 112666893 112676965 - 114437370 114447741 - 113894748 113905119 - 1580863;6480464;8699517;7240710;8554872 10066790;10436028;11409905;12419313;12477932;14702039;15489334;16710414;17353931;20301682;21139048;21906983;21963094;22290197;22797925;23251661;23535729 10717 B1ALD0;B1ALD1;B1ALD2;B1ALD3;B4DTG3;Q9Y6B7 AB209817;ABBA01068458;AF092094;AK001045;AK057567;AK093740;AK298037;AK300204;AK314641;AL137856;AMYH02001778;AW072594;BC014146;BG718098;CH471122;DC299853;DC367373;DC390197;NG_031901;NM_001253852;NM_001253853;NM_006594;XM_005270381;XM_005270382;XR_246227;XR_246228 AAD20448;AAH14146;ADZ15510;BAD93054;BAG37203;BAG52756;BAG61975;BAH12709;EAW56578;EAW56579;EAW56580;EAW56581;NP_001240781;NP_001240782;NP_006585;Q9Y6B7;XP_005270438;XP_005270439 Hs.515048 1645401;2218996;5037552 AP4B1__4336;D8S2279;SHGC-75343 BETA-4;CPSQ5;SPG47 AP-4 adapter complex subunit beta;AP-4 adaptor complex subunit beta;AP-4 complex subunit beta-1;OTTHUMP00000013725;OTTHUMP00000013726;OTTHUMP00000013730;adapter-related protein complex 4 subunit beta-1;adaptor-related protein complex 4 subunit beta-1;beta 4 subunit of AP-4;beta subunit of AP-4;beta4-adaptin;spastic paraplegia 47 APPROVED protein-coding ENSG00000134262 HGNC:572 06259 607245;614066 REVIEWED 1322400 AP3S1 adaptor-related protein complex 3, sigma 1 subunit ENCODES a protein that exhibits protein transporter activity (inferred); INVOLVED IN anterograde axon cargo transport (ortholog); anterograde synaptic vesicle transport (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN AP-3 adaptor complex; INTERACTS WITH (+)-catechin; 5-fluorouracil; arsenous acid 5 5 5 q22 111126032 111198189 + 115177303 115249778 + 115841606 115914081 + 1580863;6480464;8554872 12370188;12477932;12967569;14657250;14702039;15469849;15489334;16162817;18076669;19322201;20379614;20512086;21139048;21890473;21906983;21963094;22505724;22863883;22875976;22939629;22990118;23000965;23125841;24797263;8697810;9118953;9151686;9792713 1176 F5H459;Q92572 ABBA01069029;AC010282;AC026449;AK124911;AK126876;AK311843;AMYH02012009;AMYH02012010;BC000804;BC012614;BI600357;BT009833;BX647735;CH471086;CR450341;D63643;KC877080;NM_001284;U91932;X99458;XM_005271872 AAD03779;AAH00804;AAP88835;ABM82124;ABM85307;BAA09798;BAG34785;CAA67823;CAG29337;EAW48952;EAW48953;NP_001275;Q92572;XP_005271929 Hs.406191 1719661;1780868;1780910;1792860;5106465 PMC166143P2;RH123522;WI-11812;bac53103T;bac53227T CLAPS3;Sigma3A AP-3 complex sigma-3A subunit;AP-3 complex subunit sigma-1;AP-3 complex subunit sigma-3A;OTTHUMP00000159125;OTTHUMP00000236881;adapter-related protein complex 3 sigma-1 subunit;adapter-related protein complex 3 subunit sigma-1;adaptor-related protein complex 3 subunit sigma-1;clathrin-associated/assembly/adapter protein, small 3;clathrin-associated/assembly/adaptor protein, small 3 (22kD);sigma-3A-adaptin;sigma-adaptin 3a;sigma3A-adaptin protein-coding HGNC:2013 03298 601507 VALIDATED 1343936 AP4E1 adaptor-related protein complex 4, epsilon 1 subunit This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 15 15 15 q21.2 28093991 28191516 + 51200780 51298097 + 50908625 51005900 + 1580863;6480464;8699517;7240710;8554872 10066790;10436028;11409905;11707398;12477932;15174051;15489334;19322201;20301682;20972249;21620353;24816145 23431 B4DM48;H0YK94;H0YK95;H0YL95;Q9UPM8 AB030653;ABBA01039089;ABBA01039090;ABBA01039091;ABBA01039092;AC021752;AC022407;AC073964;AF155156;AI143020;AK297290;AK308644;AL355694;AMYH02030424;AMYH02030425;AMYH02030426;BC015224;BC040044;BC040045;BC126308;BC130466;BC144025;BC144030;CH471082;CR627314;CR749604;NG_031875;NM_001252127;NM_007347;XM_005254264;XM_006720447 AAD43326;AAI26309;AAI30467;ADR83286;BAA82969;BAG59760;CAH18399;EAW77411;NP_001239056;NP_031373;Q9UPM8;XP_005254321;XP_006720510 Hs.413366 1656274;1687964;1755951;2106425;2118711;5015961 AP4E1__4337;D15S1477;G41300;RH93797;SHGC-142770;STS-AA018409 CPSQ4;DKFZp686L12167;SPG51 AP-4 adapter complex subunit epsilon;AP-4 adaptor complex subunit epsilon;AP-4 complex subunit epsilon-1;AP-4-EPSILON;adapter-related protein complex 4 subunit epsilon-1;adaptor-related protein complex 4 subunit epsilon-1;adaptor-related protein complex AP-4 epsilon;epsilon subunit of AP-4;epsilon-adaptin APPROVED protein-coding ENSG00000081014 HGNC:573 06258 607244;613744 REVIEWED 6767156 AP4B1-AS1 AP4B1 antisense RNA 1 ASSOCIATED WITH Arthritis, Rheumatoid (inferred); Lupus Erythematosus, Systemic (inferred); Melanoma (inferred) 1 1 1 p13.2 112628485 112673083 + 114399257 114443859 + 113814387 113869962 + 8554872 14702039;16344560 100287722 ABBA01068458;AK123199;AL137856;AMYH02001776;AMYH02001777;AMYH02001778;DB028504;DB074478;HG492456;HG492459;HY043352;NR_037864;NR_125965;XR_425203;XR_425204;XR_426744;XR_426745;XR_431221;XR_431222 Hs.664669 1645401;1685399;5022322;5037552 D11S2560;D8S2279;RH98904;SHGC-75343 RP5-1073O3.5 APPROVED ncrna ENSG00000226167 HGNC:44114 VALIDATED 735940 AP3M2 adaptor-related protein complex 3, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008] 8 8 8 p11.2 40959278 40977658 + 42010464 42028701 + 42152946 42171183 + 1580863;6480464;8554872 12477932;15489334;1602151;17293072;18076669;19481122;20012524;21890473;22952844;23000965;7601449;8076832;9400603 10947 E5RGF3;E5RI83;E5RJ52;E7ER80;H0YAY4;H0YBA0;H0YBM0;P53677 AA854640;ABBA01021151;AC103724;AK315228;AMYH02017889;BC021966;BC056257;BC056398;BI461390;BX648354;BX648390;CH471080;D38293;FB336135;HH767474;NM_001134296;NM_006803;XM_006716276 AAH56257;AAH56398;ACE86863;ACE87551;BAA07415;BAG37657;CAR81021;CBX84499;EAW63236;EAW63237;EAW63238;NP_001127768;NP_006794;P53677;XP_006716339 Hs.654529 1645500;2130069;2138880 A004G41;SGC30244;SHGC-31558 AP47B;CLA20;P47B AP-3 complex subunit mu-2;HA1 47 kDa subunit homolog 2;HA1 47kDA subunit homolog 2;OTTHUMP00000225723;OTTHUMP00000225725;OTTHUMP00000225726;OTTHUMP00000229134;adapter-related protein complex 3 mu-2 subunit;adapter-related protein complex 3 subunit mu-2;adaptor-related protein complex 3 subunit mu-2;clathrin assembly protein assembly protein complex 1 medium chain homolog 2;clathrin assembly protein assembly protein complex 3 mu-2 medium chain;clathrin coat assembly protein AP47 homolog 2;clathrin coat-associated protein AP47 homolog 2;clathrin-associated protein AP47 homolog 2;golgi adaptor AP-1 47 kDA protein homolog 2;mu3B-adaptin APPROVED protein-coding ENSG00000070718 HGNC:570 09801 610469 REVIEWED 1348189 AP4S1 adaptor-related protein complex 4, sigma 1 subunit This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011] 14 14 14 q12 11360171 11428127 + 31494312 31565656 + 31025106 31096450 + 1580863;6480464;8699517;7240710;8554872 10066790;10436028;12477932;14702039;16196087;18624398;20301682;21139048;21620353;21832049;21988832;24250222;24816145 11154 G3V3X7;G3V4P7;G3V5J6;H0YJI3;J3KNK4;Q9Y587 AB030654;ABBA01061408;ABBA01061409;ABBA01061410;ABBA01061411;ABBA01061412;AF155159;AI570549;AK056928;AK098330;AK304115;AK316517;AL049830;AL121808;AMYH02028946;AMYH02028947;AMYH02028948;AMYH02028949;BC001259;BC035622;BF671561;BG702035;BT006701;BX247969;BX388185;CH471078;CR457100;NG_031913;NM_001128126;NM_001254726;NM_001254727;NM_001254728;NM_001254729;NM_007077;R46468;XM_005267293 AAD43329;AAH01259;AAP35347;ABM81633;ABM84817;BAA82970;BAG65016;BAH14888;CAD62307;CAG33381;EAW65953;EAW65954;EAW65955;EAW65956;EAW65957;EAW65958;NP_001121598;NP_001241655;NP_001241656;NP_001241657;NP_001241658;NP_009008;Q9Y587;XP_005267350 Hs.293411 1341096;1677798;1681496;1685754;1772573;1775174;1855191;2124438;2140044;2141448;2167588;2173517;2183929;5016478;5020946;5022651;5024413;5037552;5092638;5109281;5109362 D11S2921;D14S54;D14S911;D14S918;D17S1239;D1S1425;D8S2279;G32231;G35467;G35637;G35699;G35807;G35832;GDB:434012;L17877;L17971;RH66892;RH68330;RH69503;RH99157;SHGC-56780 AP47B;CLA20;CLAPS4;CPSQ6;FLJ32366;FLJ41011;SPG52 AP-4 adapter complex subunit sigma-1;AP-4 adaptor complex subunit sigma-1;AP-4 complex subunit sigma-1;OTTHUMP00000178784;OTTHUMP00000244083;OTTHUMP00000244084;OTTHUMP00000244086;OTTHUMP00000244087;OTTHUMP00000244088;adapter-related protein complex 4 subunit sigma-1;adaptor-related protein complex 4 subunit sigma-1;clathrin-associated/assembly/adaptor protein, sigma 4;sigma-1 subunit of AP-4;sigma-4-adaptin;sigma4-adaptin APPROVED protein-coding ENSG00000100478 HGNC:575 06257 607243;614067 REVIEWED 1345016 AP5S1 adaptor-related protein complex 5, sigma 1 subunit INVOLVED IN double-strand break repair via homologous recombination; endosomal transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN AP-type membrane coat adaptor complex; cytoplasm; late endosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; potassium chromate 20 20 20 p13 3863077 3867828 + 3801171 3805954 + 3820524 3825307 + 6480464;8554872 11780052;12477932;14702039;15489334;16344560;22022230;24250222 55317 A2A2L4;Q5JX74;Q9NUS5 ABBA01053834;AI338486;AK002030;AK093332;AL109804;AMYH02036607;AX878040;BC011985;BC043344;CH471133;CS300639;DA129391;DA253969;DB190907;NM_001204446;NM_001204447;NM_018347 AAH43344;BAA92045;BAG52692;CAE89984;CAK32303;EAX10483;EAX10484;EAX10485;EAX10486;NP_001191375;NP_001191376;NP_060817;Q9NUS5 Hs.104806 1715103 RH119504 C20orf29;FLJ11168;sigma5 AP-5 complex subunit sigma-1;OTTHUMP00000030129;OTTHUMP00000030130;OTTHUMP00000030131;OTTHUMP00000161028;adapter-related protein complex 5 sigma subunit;adaptor-related protein complex 5 sigma subunit;hypothetical protein LOC55317 APPROVED protein-coding ENSG00000125843 HGNC:15875 16649 614824 VALIDATED 1321015 AP4M1 adaptor-related protein complex 4, mu 1 subunit This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 94433789 94439462 + 99699130 99704803 + 100101490 100107180 + 1580863;6480464;7240710;8554872;8699517 10066790;10436028;11139587;11707398;11802162;12477932;12690205;14572453;14702039;15254094;17207965;18341993;19056867;19559397;20301682;21620353;21890473;21906983;21963094;21988832;9013859;9794796 9179 C9IZL5;C9JC87;C9JMG3;C9JWL4;F8WCC5;F8WCR6;F8WDR3;H0Y6K1;H7BZV3;H7C0A0;O00189 ABBA01013238;AC073842;AF020796;AF155158;AK055686;AK293590;AK296651;AK304489;AK315782;AMYH02016371;BC012023;BC018705;BX640759;CH236956;CH471091;DC413622;NG_016312;NM_004722;XM_005250689;XM_005250690;XM_005250691;XM_006716175;Y08387 AAD25869;AAD43328;AAH18705;ADQ32212;BAG57057;BAG59249;BAG65298;CAA69667;CAE45865;EAL23854;EAW76594;EAW76595;EAW76596;EAW76597;NP_004713;O00189;XP_005250746;XP_005250747;XP_005250748;XP_006716238 Hs.632317 1668168;1757283;2141173 RH68321;SHGC-144694;STS-F01487 CPSQ3;MU-4;MU-ARP2;SPG50;mu4 AP-4 adaptor complex mu subunit;AP-4 complex subunit mu-1;OTTHUMP00000206506;OTTHUMP00000206588;OTTHUMP00000206591;OTTHUMP00000206630;OTTHUMP00000206943;OTTHUMP00000206944;adapter-related protein complex 4 mu-1 subunit;adapter-related protein complex 4 subunit mu-1;adaptor-related protein complex 4 subunit mu-1;adaptor-related protein complex AP-4 mu4 subunit;mu subunit of AP-4;mu-adaptin-related protein 2;mu-adaptin-related protein-2;mu4-adaptin APPROVED protein-coding ENSG00000221838 HGNC:574 03803 602296;612936 REVIEWED 1317656 AP5M1 adaptor-related protein complex 5, mu 1 subunit INVOLVED IN endosomal transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN AP-type membrane coat adaptor complex; cytosol; late endosome; INTERACTS WITH 17beta-estradiol; atrazine; benzo[a]pyrene diol epoxide I 14 14 14 q22.3 37785692 37806883 + 57735606 57756797 + 57268888 57290079 + 6480464;8554872 11230166;12477932;14702039;15146197;15489334;16344560;18395520;23665015;24816145;8125298 55745 E7EQ45;G3V3L4;G3V573;H0YIY0;Q9H0R1;S4R311 ABBA01018237;ABBA01018238;AF094583;AK001675;AK172824;AK225345;AK303999;AL136685;AL139195;AL355834;AMYH02029257;BC013174;BQ000414;CH471061;CN352262;DB204683;NM_018229;NR_026895;XM_006720196 AAC78130;AAH13174;BAA91828;BAD18791;BAG64916;CAB66620;EAW80700;EAW80701;EAW80702;EAW80703;NP_060699;Q9H0R1;XP_006720259 Hs.597349 1686366;2141222 RH11331;RH44205 C14orf108;FLJ10813;Mu5;MuD AP-5 complex subunit mu;AP-5 complex subunit mu-1;MHD domain-containing death-inducing protein;MU-2/AP1M2 domain containing, death-inducing;MUDENG;Mu-2 related death-inducing;OTTHUMP00000179018;OTTHUMP00000245791;adapter-related protein complex 5 mu subunit;adapter-related protein complex 5 subunit mu-1;adaptor-related protein complex 5 subunit mu-1;mu-2-related death-inducing protein;putative HIV-1 infection-related protein APPROVED protein-coding HGNC:20192 12630 614368 VALIDATED 1606994 AP5B1 adaptor-related protein complex 5, beta 1 subunit INVOLVED IN endosomal transport; FOUND IN AP-type membrane coat adaptor complex; lysosomal membrane 11 11 11 q13.1 62868693 62872853 - 65541369 65548062 - 65773898 65780591 - 12477932;15146197;16189514;17897319;21139048;21890473;21906983;21963094;21987572;22022230;23825025 91056 Q2VPB7 ABBA01024102;AF193040;AL834269;AMYH02024963;AP001266;BC004895;BC017264;BC109109;BC109110;BC126905;BC128056;BM927404;CH471076;CN290077;JQ313135;NM_138368 AAG22468;AAH04895;AAI09110;AAI09111;AAI26906;AAI28057;AFA36464;CAD38944;EAW74437;EAW74438;NP_612377;Q2VPB7 Hs.591957 1769076;5020274;5020946;5037552 D8S2279;L17971;L18441;WI-17527 AP-5;DKFZp761E198;PP1030;beta-5;beta5 AP-5 complex subunit beta;AP-5 complex subunit beta-1;adapter-related protein complex 5 beta subunit;adaptor protein 5;adaptor-related protein complex 5;adaptor-related protein complex 5 beta subunit;hypothetical protein LOC91056;uncharacterized DKFZp761E198;uncharacterized protein DKFZp761E198 APPROVED protein-coding HGNC:25104 13223 614367 VALIDATED 733293 APAF1 apoptotic peptidase activating factor 1 This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 12 12 12 q23 98703974 98794106 + 99039078 99129211 + 98645228 98735433 + 1580863;704404;2313998;2325742;2325748;2325750;2325739;2325745;2292105;2325751;6480464;6907045 11567033;11753565;14973070;17029665;17224646;17640469;18205898;18931364 10206961;10322433;10364241;10376594;10383829;10393175;10441496;10486928;10543941;10578182;10702682;10722681;10764728;10934467;10949025;11113115;11230124;11242052;11389439;11457460;11550094;11864614;12021264;12147322;12149244;12168954;12477932;12549820;12615903;12637514;12804598;12963020;14566819;14747474;14993223;15001356;15009102;15026369;15033720;15103018;15262985;15305193;15378005;15590702;15649154;15692060;15703181;15735003;15829969;15832174;15832175;15863166;15972851;16046141;16098052;16231040;16232302;16331630;16420245;16595687;16951219;16979168;17081983;17133271;17274640;17348858;17361096;17418785;17534194;17541304;17603079;17876870;17882496;17885667;18029348;18042457;18093951;18309324;18373966;18439902;18587251;18676680;18719738;18834886;19056867;19058789;19074885;19141860;19170196;19238172;19322201;19455599;19603830;19625176;19662370;19675677;19692168;19698783;19801675;19809088;19913121;20345447;20379614;20453000;20628086;20959405;20977544;21104989;21139048;21297999;21528061;21659556;21890473;21906983;21922274;22101335;22143029;22246185;22335196;22632162;22996741;23085065;23207240;23326121;23521171;23822711;24038028;24142530;24416260;24424093;24816145;9267021;9390557;9455477;9488720;9539746;9651578;9753320;9829980;9837928;9878060;9922454 317 C9JLV4;F8VNZ0;O14727 AB007873;AB070829;AB103079;ABBA01053281;ABBA01053282;AC011248;AC013283;AF013263;AF134397;AF149794;AF248734;AJ133643;AJ133644;AJ133645;AJ243003;AJ243004;AJ243005;AJ243006;AJ243007;AJ243008;AJ243009;AJ243010;AJ243011;AJ243048;AJ243107;AK307509;AMYH02027040;AMYH02027041;BC136531;BC136532;BC150255;CH471054;EF560718;NG_029094;NM_001160;NM_013229;NM_181861;NM_181868;NM_181869;XR_429095 AAC51678;AAD34016;AAD38344;AAI36532;AAI36533;AAI50256;AAK28401;ABQ59028;BAA24843;BAC77343;CAB55579;CAB55580;CAB55581;CAB55582;CAB55583;CAB55584;CAB55585;CAB55586;CAB55587;CAB55588;CAB56462;CAB65085;CAB65086;CAB65087;EAW97603;EAW97604;EAW97605;EAW97606;EAW97607;EAW97608;EAW97609;EAW97610;EAW97611;NP_001151;NP_037361;NP_863651;NP_863658;NP_863659;O14727 Hs.552567 1704172;1704188;1704192;1774124;1794152;2106951;2151720;5014467;5016478;5020885;5022651;5037552;5093142 A009H22;APAF1_7746;D11S2921;D8S2279;G32545;GDB:313557;GDB:434012;L17791;PMC310794P40;RH69665;SHGC-79800;SHGC-79820;SHGC-79823 APAF-1;CED4;DKFZp781B1145 OTTHUMP00000243255;OTTHUMP00000243256;OTTHUMP00000243258;OTTHUMP00000243259;OTTHUMP00000243260;OTTHUMP00000243261;apoptotic protease activating factor 1;apoptotic protease-activating factor 1 APPROVED protein-coding ENSG00000120868 HGNC:576 03755 602233 REVIEWED 732461 APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008] 9 9 9 q13-q21.1 42632969 42877657 - 72042448 72287275 - 69427532 69672359 - 1300048;704404;1580863;6480464 10455105;11010978;11036064;11083918;11115513;12006486;12016213;12093160;12177192;12196555;12514209;12849748;12970358;14756819;14960569;14970211;15024025;15164053;15563604;15699037;16344560;16413130;18836734;1968060;19720620;20016085;20160714;20379614;20468060;20531236;21178287;21763699;22355143;23737971;24742670;7545337;7678331;7719031;8887653;9321393;9395480;9585438;9614075;9753324;9822620;9952408 320 Q02410 ABBA01033809;ABBA01033810;ABBA01033811;AC208386;AF029106;AF047347;AL162412;AL162421;AL353693;AL355140;AL713639;AMYH02020937;AMYH02020938;AMYH02020939;AMYH02020940;AMYH02020941;AMYH02020942;AMYH02020943;BF435835;BQ269294;CH471089;DA179202;DA313538;L04953;NM_001163;XM_005251967;XM_005251968;XM_006717093;Z32676 AAA61307;AAC05304;AAC39766;AAI56048;AAI57031;EAW62486;EAW62487;NP_001154;Q02410;XP_005252024;XP_005252025;XP_006717156 Hs.171939;Hs.592974 1667539;1686806;1696038;1731136;1732093;1739881;1754957;1764697;1856744;2114046;2116962;2138398;2156496;2165193;2181622;2218228;7184762;7184858 AB047613;APBA1__4338;D9S1154;D9S1754;D9S2022;D9S327;D9S411E;G15857;RH17597;RH48024;RH93021;SHGC-141873;SHGC-148287;SHGC-83193;WI-16198;WI-17743 D9S411E;LIN10;MINT1;X11;X11A;X11ALPHA;mint-1 OTTHUMP00000021438;adapter protein X11alpha;adaptor protein X11alpha;amyloid beta (A4) precursor protein-binding, family A, member 1 (X11);amyloid beta A4 precursor protein-binding family A member 1;neuron-specific X11 protein;neuronal munc18-1-interacting protein 1;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000107282 HGNC:578 03879 602414 REVIEWED 1312445 APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein INVOLVED IN blood coagulation (inferred); platelet activation (inferred); signal transduction (inferred); PARTICIPATES IN integrin mediated signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction (inferred); cell projection (inferred); cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 10 10 10 p12.1 26439007 26568370 + 26727253 26856732 + 26438337 26567803 + 1580863;2300340;6480464;8554872 18363565 12477932;14530287;15164054;15469846;15489334;15642358;16005629;16055720;16385451;16581250;17373700;19041431;19098287;19952372;20379614;21454517;21890473;22228203;22566498;22946047;23045549;23420480;24722188;8631894;9407065 54518 B4E100;Q7Z5R6;Q9NWJ6 AB085852;ABBA01034417;ABBA01034418;ABBA01034419;ABBA01034420;ABBA01034421;AK000812;AK303597;AK308916;AL160287;AL355798;AMYH02022496;AMYH02022497;AY152730;BC035636;BC054516;BM150270;BM556115;CH471072;NM_019043;XM_006717451 AAH35636;AAH54516;AAN75525;BAA91384;BAC41256;BAG64612;EAW86095;EAW86096;EAW86097;EAW86098;EAW86099;NP_061916;Q7Z5R6;XP_006717514 Hs.310421 1338804;1770611;1781910;2145615 D10S111;D10S1197;D10S1417;SHGC-106955 INAG1;PREL-1;PREL1;RARP-1;RARP1;RIAM APBB1-interacting protein 1;OTTHUMP00000019344;Rap1-GTP-interacting adaptor molecule;Rap1-interacting adaptor molecule;amyloid beta A4 precursor protein-binding family B member 1-interacting protein;proline rich EVH1 ligand 1;proline-rich EVH1 ligand 1;proline-rich protein 73;rap1-GTP-interacting adapter molecule;retinoic acid-responsive proline-rich protein 1 protein-coding ENSG00000077420 HGNC:17379 16420 609036 VALIDATED 1626268 AP5Z1 adaptor-related protein complex 5, zeta 1 subunit This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011] 7 7 7 p22.2 4774915 4791050 + 4815262 4834026 + 4775631 4794395 + 6480464;7240710;8699517 12107412;12477932;12690205;12853948;14702039;15489334;16189514;18029348;20301682;20613862;21139048;21903422;21906983;21963094;21987572;22022230;22505724;9455477 9907 O43299 AB007875;ABBA01039430;AC092610;AK092068;AMYH02015121;BC008841;BC014240;BC037399;BI766915;BQ228738;CD671081;CH236953;CH471144;NG_028111;NM_014855;XR_242109 AAH08841;AAH37399;BAA24845;EAL23965;EAW87294;EAW87295;EAW87296;EAW87297;EAW87298;EAW87299;NP_055670;O43299 Hs.558440 2127194 RH48634 KIAA0415;SPG48;zeta;zeta5 AP-5 complex subunit zeta-1;OTTHUMP00000200469;adapter-related protein complex 5 zeta subunit;adaptor-related protein complex 5 zeta subunit;hypothetical protein LOC9907 APPROVED protein-coding HGNC:22197 613647;613653 REVIEWED 733396 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q11-q12 6851376 7048205 + 29211570 29410518 + 28919367 29118315 + 704404;1580863;6480464;8554872 10336668;10777610;10827173;10833507;11036064;11083918;12196555;12477932;12720574;12780348;12972431;14970211;15037614;15345747;15563604;15699037;17332754;17989066;19197363;19222704;19615732;19736351;19744962;20015385;20016085;20029827;20379614;21900206;22222501;22832960;23076970;24009623;24385013;24742670;7545337;8619474;8889548;8955346;9110174;9395480;9585438;9614075;9822620;9860131;9890987 321 H0YL28;H0YMS0;H0YNE8;H0YNG7;Q59G28;Q99767 AB014719;AB209281;ABBA01010382;ABBA01010383;ABBA01010384;AC024474;AC127522;AC243901;AF029108;AF047348;AK124794;AK310413;BC007794;BC082986;BM665057;BX332225;CH471205;KF456028;NM_001130414;NM_005503;U79255;XM_005254331;XM_006720480;XM_006720481;XM_006725543 AAB50203;AAC05306;AAC39767;AAH82986;BAA34734;BAC85951;BAD92518;EAW51516;NP_001123886;NP_005494;Q99767;XP_005254388;XP_006720543;XP_006720544;XP_006725606 Hs.618112;Hs.721380 1719847;1724853;1728315;1728925;1792666;1792668;1792670;1792672;1792674;1792676;1792678;1792680;1792682;1792684;1792686;1792688;1792690;2178280;5109281 Apba2;D1S1425;G63439;PMC156605P1;PMC156605P10;PMC156605P11;PMC156605P12;PMC156605P13;PMC156605P2;PMC156605P3;PMC156605P4;PMC156605P5;PMC156605P6;PMC156605P7;PMC156605P8;PMC156605P9;RH119189;RH123618;WI-14097 D15S1518E;HsT16821;LIN-10;MGC99508;MGC:14091;MINT2;X11-BETA;X11L;mint-2 OTTHUMP00000159568;X11-like protein;adapter protein X11beta;amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like);amyloid beta A4 precursor protein-binding family A member 2;neuron-specific X11L protein;neuronal munc18-1-interacting protein 2;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000034053 HGNC:579 04090 602712 REVIEWED 733384 APBB3 amyloid beta (A4) precursor protein-binding, family B, member 3 The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q31 136014603 136020939 - 139937853 139944189 - 140558268 140564604 - 6480464;8554872 10081969;10329396;12153398;12477932;14527950;14702039;15489334;16169070;16273093;18029348;20205790;24250222;9407065 10307 D6RBA1;D6RJB2;E7EX91;O95704;Q59EH2;Q96DX9 AB018247;AB024745;AB049618;AB061224;AB079687;AB094990;AB209839;ABBA01026426;AC005214;AC011399;AF224708;AF224709;AF224710;AF224711;AK074885;AK075280;AK125244;AK304824;AK307170;AMYH02012339;BC013158;BC125187;BF448559;CH471062;CQ783896;NM_006051;NM_133172;NM_133173;NM_133174 AAF65172;AAF65173;AAF65174;AAF65175;AAH13158;AAI25188;BAA35188;BAA78674;BAB40806;BAB71767;BAC22578;BAC56948;BAD93076;BAG52024;BAG52101;BAG54172;BAG65572;CAF86913;EAW62041;EAW62042;EAW62043;EAW62044;EAW62045;EAW62046;EAW62047;EAW62048;EAW62049;EAW62050;NP_006042;NP_573418;NP_573419;NP_573420;O95704 Hs.529449 1740445;2107839;2149648;2153349 A007D18;APBB3_9088;D5S2251E;RH16024 FE65L2;MGC150555;MGC87674;SRA FE65-like protein 2;OTTHUMP00000159886;OTTHUMP00000159887;OTTHUMP00000159888;OTTHUMP00000223852;OTTHUMP00000223853;amyloid beta A4 precursor protein-binding family B member 3;amyloid precursor interacting protein;protein Fe65-like 2 APPROVED protein-coding ENSG00000113108 HGNC:20708 04089 602711 REVIEWED 737449 APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3 The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3688414 3699318 - 3750771 3761673 - 3750771 3761698 - 1580863;6480464 10049767;10574372;11440799;11831025;12196555;12477932;14990567;15057824;15489334;15494376;16273093;17959829;18544638;19726677;20016085;20677014;21178287;21903422;23965993;24250222;24742670;24778252;8889548;9860131 9546 O96018;Q9UPY9 AB021638;AB023431;AB024411;AB209603;ABBA01002841;AC005954;AF029110;AMYH02035262;BC008338;BC086306;BG938716;BI910038;BM977984;BQ707748;CH471139;NM_004886;XM_006722950;XM_006722951 AAC17979;AAC72275;AAH86306;BAA74430;BAA83094;BAA83517;BAD92840;EAW69290;EAW69291;NP_004877;O96018;XP_006723013;XP_006723014 Hs.25527;Hs.465607 1652853;1676486;1698940;2109047;5014003;5015879;5020242 APBA3_8956;D11S2612;D17S1136;GDB:314949;RH103039;RH78751;RH79570 MGC:15815;X11L2;mint-3;mint3 X11-like 2 protein;adapter protein X11gamma;amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2);amyloid beta A4 precursor protein-binding family A member 3;neuron-specific X11L2 protein;neuronal munc18-1-interacting protein 3;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000011132 HGNC:580 05038 604262 REVIEWED 1342475 APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 p13 41255358 41659952 - 40812044 41218731 - 40810027 41216714 - 1580863;6480464;7240710;8554872 12089154;12477932;14527950;15489334;15714520;15761153;16083851;16273093;16344560;17567906;18852029;19542221;20301340;20677014;21139048;21890473;23000965;23259602;23384821;24143882;24250222;8855266;8955346;9585438 323 B4DJ88;B4E2F2;D6RAE0;D6RAJ4;D6RB00;D6RB55;D6RD19;D6RDY3;D6RGD4;G5E9Y1;H0Y943;H0Y9U9;H0YA92;H0YAJ5;Q92870 ABBA01014258;ABBA01014259;ABBA01014260;ABBA01014261;AC093804;AC096712;AC108937;AC131953;AK024871;AK226179;AK289838;AK295974;AK299800;AK304247;AL080130;AL596608;AL600779;AMYH02009085;AMYH02009086;AMYH02009087;AMYH02009088;AMYH02009089;AMYH02009090;AMYH02009091;AMYH02009092;AMYH02009093;BC027946;BC088372;BM546260;BU184203;BX440903;CF552608;CH471069;CX782504;DA603009;DB236935;DC372060;DC377357;DC377693;DC400218;NG_013337;NM_001166050;NM_001166051;NM_001166052;NM_001166053;NM_001166054;NM_004307;NM_173075;XM_005248101;XM_006714005;XM_006714006;XM_006714007;XM_006714008;XM_006714009;XM_006714010;XM_006714011;XM_006714012 AAH27946;AAH88372;ABM82479;ABM85666;BAF82527;BAG58750;BAG61676;BAG65114;EAW92975;EAW92976;EAW92977;NP_001159522;NP_001159523;NP_001159524;NP_001159525;NP_001159526;NP_004298;NP_775098;Q92870;XP_005248158;XP_006714068;XP_006714069;XP_006714070;XP_006714071;XP_006714072;XP_006714073;XP_006714074;XP_006714075 Hs.479602 1336656;1339155;1645720;1646810;1648722;1650684;1651304;1654493;1660287;1665100;1668510;1696362;1697066;1705066;1712042;1719261;1728435;1735400;1753981;1755275;1764445;1766405;1774623;1775351;1850183;1851416;1853184;2110259;2119153;2134941;2140800;2143722;2150534;2151909;2160926;2162931;2165961;2173525;2174975;2175061;2178924;2183025;5015861;5491459;7185938 1862;APBB2_8203;D10S16;D4S1333;D4S174;D4S2536E;D4S2546E;D4S2573E;D4S2651;D4S2919;D4S303;D4S308;D4S3222;D4S3272;D4S999;G33670;G34298;G41963;G63652;MARC_13889-13890:1007561323:1;RH102013;RH118718;RH123352;SHGC-132009;SHGC-142169;SHGC-148037;SHGC-149747;SHGC-50280;SHGC-51476;SHGC-51743;SHGC-53076;SHGC-53092;SHGC-59600;SHGC-59621;SHGC-59693;SHGC-59844;SHGC-67216;SHGC-67240;SHGC-68079;SHGC-77808;SHGC-78054;STS-N27935;STS-R35307;WI-16758 DKFZp434E033;FE65L;FE65L1;Fe65-like 1;MGC35575 OTTHUMP00000218167;OTTHUMP00000218168;OTTHUMP00000218169;OTTHUMP00000218170;OTTHUMP00000218869;OTTHUMP00000218871;OTTHUMP00000218876;OTTHUMP00000218877;OTTHUMP00000218879;amyloid beta A4 precursor protein-binding family B member 2 APPROVED protein-coding ENSG00000163697 HGNC:582 04088 104300;602710 REVIEWED 1349313 APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012] 11 11 11 p15 6535423 6559715 - 6416355 6440644 - 6395124 6419613 - 1580863;2301212;2301208;6480464;6907045;8554872 12707777;9799084 10075692;10081969;10561691;10945997;11029529;11065130;11085987;11095528;11099823;11115513;11279131;11436125;11441186;11517249;11606623;11741599;11854179;12089154;12150997;12477932;12653567;12727304;12779321;12843239;12888553;12972431;14569203;14572442;14699153;15037614;15044485;15146195;15331662;15489334;15592452;15647266;15816856;16049941;16055720;16223726;16273093;16332686;16713569;17332754;17368826;17512906;17590240;17686488;17854420;17855370;18096514;18468999;18480379;18550529;18777128;18800165;18833287;18922798;19234442;19343227;19381069;19913121;20091743;20133016;20205790;20405578;20568118;20628086;21139048;21145461;21650223;21824145;21890473;21900206;21968187;22199353;22902274;23000965;23572515;23663107;24056087;24284412;24619425;8855266;8887653;8894693;8955346;9045663;9407065;9461550;9585438;9685356;9738440;9837937 322 B7Z2A2;B7Z3G1;B7Z4M9;J3KPL8;O00213;V9GY97;V9GYD5;V9GYR7 ABBA01028667;AC068733;AC084337;AF029233;AF029234;AF047835;AF394214;AK293452;AK293550;AK293554;AK293613;AK293643;AK293711;AK294495;AK295241;AK295425;AK295837;AK297542;AK297544;AK297550;AK308559;AK308782;AK309000;AK309434;AK309445;AK311091;AK311101;AK311141;AK311149;AK311413;AK311725;AK315965;AMYH02024269;BC010854;BG333769;BG699532;BM145723;BX538185;CH471064;DC303314;DC306210;DC316489;DC319935;EF103274;HY118301;HY138432;HY145957;L77864;NG_029615;NM_001164;NM_001257319;NM_001257320;NM_001257321;NM_001257323;NM_001257325;NM_001257326;NM_145689;NR_047512;XM_006718209;XM_006718210;XM_006718211;XM_006718212;XM_006718213;XM_006718214;XM_006718215;XM_006718216 AAB93631;AAC79942;AAH10854;AAL79526;ABL07489;ABM81923;ABM85101;BAH11511;BAH11531;BAH11532;BAH11546;BAH11554;BAH11576;BAH11788;BAH12016;BAH12063;BAH12197;BAH12610;BAH12612;BAH12615;BAH14336;CAD98057;EAW68722;EAW68723;EAW68724;EAW68725;NP_001155;NP_001244248;NP_001244249;NP_001244250;NP_001244252;NP_001244254;NP_001244255;NP_663722;O00213;XP_006718272;XP_006718273;XP_006718274;XP_006718275;XP_006718276;XP_006718277;XP_006718278;XP_006718279 Hs.372840 1728499;1742579;1850059;2152808 A002D29;G63687;GDB:197904;SMPD1 FE65;MGC:9072;RIR OTTHUMP00000229838;OTTHUMP00000229839;OTTHUMP00000230717;adaptor protein FE65a2;amyloid beta A4 precursor protein-binding family B member 1;amyloid beta A4 precursor protein-binding, family B, member 1;stat-like protein APPROVED protein-coding ENSG00000166313 HGNC:581 04087 602709 REVIEWED 6892856 APCDD1L-AS1 APCDD1L antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 20 20 20 q13.32 53830892 53935401 + 57090435 57194948 + 58515379 58619892 + 8554872 14702039;20838585;24483146 149773 ABBA01005976;ABBA01005977;AI077602;AK054637;AK090612;AK091704;AL050327;AL118513;AMYH02037366;AMYH02037367;NR_034147 Hs.685214;Hs.729646 1784338 SHGC-101667 APPROVED ncrna ENSG00000231290 HGNC:27152 VALIDATED 736624 APC adenomatous polyposis coli This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] 5 5 5 q21-q22 107988802 108127503 + 112043202 112181936 + 112707505 112846239 + 734579;1331525;1580863;2293188;2317199;2317202;2317200;2317207;2317191;2317198;2317208;2317205;2317206;6480464;6484523;6484525;6484212;6484113;1601201;6907045;7240710;7242056;7242057;7242060;7242059;7242058;8554872;8699517 10212000;10426194;11547943;11677205;11891193;1423316;15118671;15203750;15447999;15467712;16116480;1651563;16959882;17238184;17360473;17596282;18432252;21599969;7478622;8090754;9369932 10074433;10092233;10188731;10228155;10330181;10330403;10470088;10545404;10656683;10666372;10698523;10749862;10773885;10782927;10811618;10926498;10947987;10951583;10966653;10982189;11029657;11035805;11050185;11076863;11129339;11136974;11157977;11159880;11166179;11221825;11241320;11241666;11251183;11283619;11297546;11348595;11354631;11389840;11409872;11466700;11470413;11483640;11487538;11487578;11533658;11535846;11584047;11585828;11606402;11668620;11696170;11707392;11712088;11720476;11741105;11748858;11751382;11754114;11768389;11768390;11809680;11809682;11856748;11868006;11912492;11920497;11921277;11933206;11943150;11955436;11956815;11972058;12000790;12034871;12045208;12057910;12070164;12072559;12093899;12124804;12136240;12163385;12173026;12173321;12374230;12378616;12387883;12388762;12439748;12477932;12485844;12504226;12508668;12537656;12538344;12575848;12581900;12584179;12606575;12628243;12647217;12655564;12737446;12800081;12800196;12820959;12856637;12901799;12907646;12952940;12955080;1310068;1338691;1338764;1338904;14514668;14520463;14573780;14574158;14578136;14578138;14579148;14624392;14662741;14672538;14679305;14691304;14728717;14729851;14871261;14961559;14991743;15020226;15040027;15108288;15122587;15123239;15133491;15161933;15190067;15251938;15257316;15266213;15273719;15294866;15326380;15327768;15327769;15331612;15342556;15355978;15375803;15446460;15459959;15507235;15520370;15523694;15525529;15540296;15542524;15548520;15561772;15572129;15591320;15639864;15640937;15689459;15733272;15754020;15755874;15761860;15768050;15778465;15821699;15824157;15832580;15833136;15929773;15943410;15951963;15952110;15959913;15981102;16007220;16030254;16088911;16142311;16163548;16184469;16188939;16196087;16199882;16201232;16212417;16228836;16293619;16322291;16329837;16344560;16356174;16382042;16407829;16411234;16423286;16426911;16433700;16450383;16461775;16510874;16510875;1651562;16525027;16537703;16545110;16569251;16611247;16619216;16650078;16680592;16699180;16699861;16710723;16753179;16763565;1678319;16798748;16804979;16820884;16843107;16855398;16951153;16964243;16981189;17028196;17039269;17080006;17081983;17110338;17116713;17119068;17126424;17135276;17143298;17143620;17176113;17189293;17192415;17218255;17221838;17222366;17227893;17252231;17255093;17297457;17360132;17368237;17410430;17411426;17418091;17437043;17454753;17486639;17489848;17505512;17506007;17556698;17558858;17562260;17562262;17569124;17570218;17572842;17588722;17620292;17653897;17665205;17704924;17854661;17882487;17905526;17910481;17920230;17927853;17947477;17952864;17954272;17960617;17963004;17964080;17968317;17973119;18026870;18027849;18058812;18063416;18066497;18070451;18091433;18160396;18166348;18199528;18224684;18265644;18281465;18321998;18337602;18343606;18369740;18375958;18384130;18387968;18393237;18393246;18403596;18406876;18418860;18433509;18451217;18454178;18474248;18477604;18483325;18485586;18486530;18498351;18502210;18519734;18612690;18617334;18629513;18630182;18632633;18632657;18632876;18632987;18646694;18662704;18662849;18676680;18708403;18770064;18774639;18807072;18841156;18844223;18847451;18854359;18955873;18977219;18982352;18987576;18992263;18992635;19013464;19026650;19029688;19035518;19036155;19061640;19064572;19110823;19111562;19124205;19151759;19164452;19169759;19170196;19196998;19240029;19261806;19307944;19309276;19337631;19351817;19378335;19426738;19444466;19448414;19450512;19453261;19470943;19474113;19506903;19515250;19525225;19527492;19527921;19531215;19543899;19571702;19576224;19584833;19593690;19606680;19615284;19615732;19617769;19625176;19632184;19654215;19672874;19679059;19692168;19694001;19701947;19703905;19728755;19768578;19773381;19777185;19793053;19845967;19888426;19889076;19900189;19900451;19912361;19913121;19928347;19928349;19928352;19928354;19945765;19966865;20007843;20027139;20033212;20056645;20063100;20092957;20128690;20149637;20208994;20229069;20237496;20301519;20333795;20352275;20360068;20371677;20434453;20437058;20453000;20473645;20510605;20513532;20519433;20544848;20564245;20570909;20613673;20628086;20649969;20658693;20685668;20696638;20696710;20696900;20723290;20800603;20840677;20844082;20844743;20850014;20887112;20924072;20935450;20936779;20971552;20978149;20978327;21057000;21078161;21110124;21139048;21199875;21207416;21225915;21279955;21302450;21309064;21311754;21315632;21359685;21404461;21442240;21484796;21538028;21573497;21598003;21643010;21664290;21665989;21680534;21737640;21779980;21788986;21807601;21857949;21858148;21859464;21865138;21871439;21900494;21901162;21902576;21904137;21909382;21915313;21948542;21949247;21995949;22000517;22073196;22077694;22081130;22103048;22184111;22262720;22277732;22294772;22324744;22372443;22380946;22431159;22434720;22469663;22496417;22509309;22528324;22669205;22682247;22704062;22719865;22740476;22741528;22761442;22787431;22795047;22796397;22825279;22851115;22864938;22884971;22886683;22893084;22898821;22907428;22976915;22987206;23011394;23055343;23085758;23087084;23131390;23159080;23159591;23244118;23277359;23291410;23299921;23302090;23326336;23334997;23382461;23393221;23405266;23443559;23469016;23504555;23525311;23555190;23561487;23602568;23646120;23788249;23796566;23840886;23846443;23871111;23874531;23896379;23970361;23983135;24005794;24078348;24130866;24139208;24197976;24250222;24255178;24296361;24309598;24320611;24390805;24416237;24590585;24667635;24735542;24736394;24931405;2797819;3789010;7606712;7651399;7661930;7744883;7833149;7833931;7890674;8074697;8111410;8252630;8259518;8259519;8383094;8389242;8521819;8619474;8638125;8638126;8889548;8940264;8990002;9110174;9188857;9286858;9298899;9326658;9375853;9419979;9482734;9601641;9637688;9660858;9707618;9724771;9731522;9731533;9734785;9811605;9950360;9973276 324 B7Z2B6;D6RFL6;E7EMH9;E9PFT7;P25054;Q4LE70;R4GMU6 AB210001;ABBA01069052;ABBA01069053;ABBA01069054;AC008575;AC136500;AF038181;AI492038;AK289567;AK294544;AK309033;AMYH02011976;AMYH02011977;AMYH02011978;AY682982;AY900441;AY925197;BC034955;BC056268;BE047584;BF112110;BG548363;BM271918;BM713901;BM975470;BP230350;CA313732;DA777787;DA795663;M73548;M74088;NG_008481;NM_000038;NM_001127510;NM_001127511;S56365;S67787;S67788;S78214 AAA03586;AAA60353;AAA60354;AAB21145;AAD13997;AAD13998;AAD14918;AAH56268;AAI11463;AAI11592;AAI11931;AAT81590;AAW82777;AAX07544;BAE06083;BAF82256;BAH11802;NP_000029;NP_001120982;NP_001120983;P25054 Hs.158932 1654104;1667557;1668879;1673300;1675349;1679165;1728927;1735542;1741905;1741907;1743019;1743021;1743845;1743847;1743849;1744219;1744483;1744731;1765631;1771080;1771176;1791708;1791710;1791714;1791716;1791718;2119638;2144728;2152868;2173023;2218230;5092614;5119887 A005A37;APC__4217;Apc;D5S1670E;G32214;GDB:186686;GDB:186687;GDB:186862;GDB:249461;GDB:249465;GDB:374804;GDB:374809;GDB:374815;GDB:437971;GDB:456137;GDB:555538;PMC122454P1;PMC122454P2;PMC122454P4;PMC122454P7;PMC122454P8;RH48628;RH65746;RH66045;RH81025;RH94067;SGC32298;SHGC-149076;SHGC-31463;SHGC-36883;STS-R39438;WI-20484;humapc3 BTPS2;DP2;DP2.5;DP3;GS;PPP1R46 OTTHUMP00000159019;OTTHUMP00000222839;OTTHUMP00000222841;OTTHUMP00000222842;adenomatosis polyposis coli;adenomatosis polyposis coli tumor suppressor;adenomatous polyposis coli protein;deleted in polyposis 2.5;protein phosphatase 1, regulatory subunit 46 APPROVED protein-coding ENSG00000134982 HGNC:583 01439 114500;114550;135290;175100;611731;613659 REVIEWED 1351282 APCDD1 adenomatosis polyposis coli down-regulated 1 This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010] 18 18 18 p11.22 10337906 10371983 + 10454625 10488698 + 10454628 10488701 + 1580863;6480464;7240710;8554872;8699517 10878665;12384519;12477932;15489334;15498874;20200978;20379614;20393562;21152411;21866343;22512811;23934736;23999434 147495 J3KTQ6;J3KTR1;J3QSE3;Q8J025;V9GY82;X6RH63 AB056722;AB104887;ABBA01049968;ABBA01049969;ABBA01049970;AF461902;AK300743;AK303076;AL110199;AMYH02034296;AP001099;BC053324;CH471113;CQ756578;NG_027685;NM_153000 AAH53324;AAQ04816;BAC15563;BAC65165;BAG62412;BAG64192;CAF32599;EAX01585;EAX01586;NP_694545;Q8J025 Hs.293274 1340412;1341022;1656203;1658432;1671498 D18S1376;D18S453;D18S53;D18S986;WI-11680 B7323;DRAPC1;FP7019;HHS;HTS;HYPT1 OTTHUMP00000162404;adenomatosis polyposis coli down-regulated 1 protein;hypoptrichosis simplex APPROVED protein-coding HGNC:15718 09595 605389;607479 REVIEWED 1317926 APC2 adenomatosis polyposis coli 2 ENCODES a protein that exhibits beta-catenin binding; INVOLVED IN negative regulation of canonical Wnt signaling pathway; negative regulation of catenin import into nucleus; PARTICIPATES IN basal cell carcinoma pathway; colorectal cancer pathway; endometrial cancer pathway; FOUND IN actin filament; catenin complex; cytoplasm; INTERACTS WITH arsane; arsenic atom; carmustine 19 19 19 p13.3 1384145 1407242 + 1446269 1473243 + 1446270 1473244 + 1580863;6480464;6907045 10021369;10074433;10330403;10644998;10646860;10922056;11691822;12477932;12956947;16510875;17267499;18157572;19913121;20237496;20628086;20826619;21396940;22513088;23840886;24250222;9823329 10297 B5MDS5;K7ELQ3;K7EN62;O95996 AB012162;AB022529;ABBA01002646;AC027307;AF110334;AF110335;AF110337;AF110338;AF128222;AJ012652;AJ131187;AL078616;AMYH02035151;AMYH02035152;BC020381;BC032573;CH471139;NM_005883;XM_005259475;XM_006722607;XM_006722608;XM_006722609;XM_006722610 AAD28183;AAD29273;AAD29274;AAD29275;AAF01784;AAH32573;BAA34611;BAA75469;CAA10317;CAB61207;EAW69496;EAW69497;EAW69498;NP_005874;O95996;XP_005259532;XP_006722670;XP_006722671;XP_006722672;XP_006722673 Hs.446376 1688400;1739943;2132089;2154576;2154638;5093566 A009Q48;D2S2123;G32795;RH36570;RH39051;WI-14332 APCL APC-like;adenomatous polyposis coli like;adenomatous polyposis coli protein 2;adenomatous polyposis coli protein-like protein-coding ENSG00000115266 HGNC:24036 09802 612034 VALIDATED 7870140 APELA apelin receptor early endogenous ligand ENCODES a protein that exhibits apelin receptor binding (ortholog); hormone activity (ortholog); INVOLVED IN apelin receptor signaling pathway (ortholog); cell migration involved in mesendoderm migration (ortholog); endoderm development (ortholog); FOUND IN extracellular region; INTERACTS WITH clofibrate (ortholog); paracetamol (ortholog) 4 4 4 q32 163130354 163150890 + 165798156 165818676 + 164877004 164897524 + 6480464 14702039;20153842;24316148;24407481 100506013 P0DMC3 ABBA01070285;AC104620;AC106872;AK092578;AMYH02010432;EF565119;KJ158076;NM_001297550;NR_038825 AHW47894;NP_001284479;P0DMC3 Hs.105196 ELA;Ende;tdl ELABELA;toddler protein-coding ENSG00000248329 HGNC:48925 615594 VALIDATED 1605849 APCDD1L adenomatosis polyposis coli down-regulated 1-like ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; fonofos 20 20 20 q13.32 53774879 53830407 - 57033503 57090405 - 58459370 58514893 - 6480464;8554872 11780052;12477932;14702039;15465500;15489334;16303743;20379614;20838585 164284 A2A2P3;Q8NCL9 ABBA01005977;ABBA01005978;AK074647;AK293299;AL118513;AMYH02037366;BC101758;BC101760;CH471077;CQ782621;KF456963;NM_153360 AAI01759;AAI01761;BAC11111;BAG56820;CAF85886;EAW75491;EAW75492;NP_699191;Q8NCL9 Hs.119286 1340914;1644481;1688594 D20S164;RH47951;RH75624 FLJ90166;MGC126807;MGC126809;RP4-685L9.2 OTTHUMP00000031398;adenomatosis polyposis coli down-regulated 1 protein-like;protein APCDD1-like protein-coding ENSG00000198768 HGNC:26892 08294 PROVISIONAL 68444 APCS amyloid P component, serum The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008] 1 1 1 q21-q23 132627015 132628060 + 159557616 159558661 + 159587826 159588871 + 1300286;1580863;6480464;8554872 12015594 10631319;10812074;10972085;11359830;11441067;11984001;12100475;12126626;12432394;12477932;12528126;12767937;14500533;14519527;14607961;14718574;1477104;15031287;15174148;15489334;15649951;15837583;1602151;16335952;16380821;16643876;16710414;16784490;17138933;17530641;17630380;17676666;18174230;18624398;19011614;19052452;19056867;19948975;20189569;20237496;20300636;20930309;20932823;21044893;21106539;21223953;21278351;21360619;21900206;21988832;22205573;22396542;22493081;22867744;22939635;23385359;23390551;23423137;23527487;23544079;23600950;23966633;23992930;2987268;3029048;3172210;3211159;3759147;3915434;4055725;7592941;8114934;8144569;81686;8202534;8417122;8662978;8999915;9217261 325 P02743;V9HWP0 ABBA01016619;AL445528;AMYH02002013;BC007039;BC007058;BC070178;BT006750;CH471121;CR450313;D00097;FJ460512;HC250941;HC311130;M10944;NM_001639;X04608 AAA60302;AAH07039;AAH07058;AAH70178;AAP35396;ACS44649;BAA00060;CAA28275;CAG29309;CBJ05768;CBJ21220;EAW52781;NP_001630;P02743 Hs.507080 1649553;1666462;1669000;1683864;2107841 APCS_8204;D1S2412;D1S3199;RH11639;RH93185 HEL-S-92n;MGC88159;PTX2;SAP 9.5S alpha-1-glycoprotein;OTTHUMP00000024355;epididymis secretory sperm binding protein Li 92n;pentaxin-related;serum amyloid P-component APPROVED protein-coding ENSG00000132703 HGNC:584 00101 104770 REVIEWED 735668 APEH acylaminoacyl-peptide hydrolase This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 49676127 49685626 + 49711427 49720936 + 49673994 49683504 + 1580863;6480464;8554872 10395453;10407158;10719179;11921441;12000146;12477932;1521574;15489334;15862967;16169070;16189514;17241160;1740429;18029348;1861871;18781797;2006156;20307617;20529763;21139048;21297633;21890473;21906983;21931648;21963094;21987572;22505724;22863883;22939629;23000965;2392324;24816145;2565880;8411161;8724851 327 C9JIF9;C9JLK2;F8WBC4;F8WEH5;H0YFE5;H7C1U0;H7C273;H7C393;P13798 ABBA01024577;AC099668;AF141383;AK314962;AMYH02006756;BC000362;BC001499;BC001826;CH471055;D38441;NG_011438;NM_001640;XM_005265097;XM_005265098 AAF37321;AAH00362;AAH01499;AAH01826;ABM82344;ABM85518;BAA07476;EAW64994;EAW64995;EAW64996;EAW64997;EAW64998;NP_001631;P13798;XP_005265154;XP_005265155 Hs.517969 1648120;1741429;1744543;1790319 APEH;GDB:181206;GDB:512856;WI-16108 AARE;ACPH;APH;D3F15S2;D3S48E;DNF15S2;MGC2178;OPH N-acylaminoacyl-peptide hydrolase;OTTHUMP00000210907;OTTHUMP00000210908;acyl-peptide hydrolase;acylamino-acid-releasing enzyme;acylaminoacyl-peptidase;oxidized protein hydrolase APPROVED protein-coding ENSG00000164062 HGNC:586 00034 102645 REVIEWED 2302585 API5P1 API5 pseudogene 1 INTERACTS WITH cyclosporin A X X X q24 115898909 115903038 + 115235619 115239750 - 116104366 116108497 - 6480464 10393420 642812 AL732602;AMYH02040296;NG_009200 1671808 RH65627 API5L1 APPROVED pseudo HGNC:595 INFERRED 1350631 APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012] X X X p11.21 58861923 58869355 + 55026756 55034306 + 55000323 55007873 + 1580863;6480464;6907045 11376153;11866537;12477932;12650714;15342556;15489334;15772651;16189514;16341674;16687656;19165527;19443450;19953087;20522537;20843780;21139048;21832049;21890473;22505724;22939629;23000965;24250222 27301 B4DWI9;B7ZA71;E5KN95;Q9UBZ4 AB021260;AB049211;ABBA01069569;AF119046;AJ011311;AK301555;AK316186;AL020991;AMYH02039495;AY884244;BC002959;BI837686;BM795632;BP363514;CH471154;HQ205186;HQ205187;HQ205188;HQ205189;HQ205190;HQ205191;HQ205192;HQ205193;HQ205194;HQ205195;HQ205196;HQ205197;HQ205198;HQ205199;HQ205200;HQ205201;HQ205202;HQ205204;HQ205205;HQ205206;HQ205207;HQ205208;HQ205209;HQ205210;HQ205211;HQ205212;HQ205213;HQ205214;HQ205215;HQ205216;HQ205217;HQ205218;HQ205219;HQ205221;HQ205222;HQ205223;HQ205224;HQ205225;NG_012568;NM_001271748;NM_014481 AAD43041;AAH02959;AAW56941;ABM84595;ABM86482;ADP90654;ADP90655;ADP90656;ADP90657;ADP90658;ADP90659;ADP90660;ADP90661;ADP90662;ADP90663;ADP90664;ADP90665;ADP90666;ADP90667;ADP90668;ADP90669;ADP90670;ADP90672;ADP90673;ADP90674;ADP90675;ADP90676;ADP90677;ADP90678;ADP90679;ADP90680;ADP90681;ADP90682;ADP90683;ADP90684;ADP90685;ADP90686;ADP90687;ADP90689;ADP90690;ADP90691;ADP90692;ADP90693;BAA78422;BAB13764;BAG63051;BAH14557;CAB45242;EAW93208;EAW93209;EAW93210;NP_001258677;NP_055296;Q9UBZ4 Hs.659558 1795364;2191735 APEX2_705;MARC_5951-5952:997299472:1 APE2;APEXL2;XTH2;ZGRF2 AP endonuclease 2;AP endonuclease XTH2;APEX nuclease 2;APEX nuclease-like 2;DNA-(apurinic or apyrimidinic site) lyase 2;DNA-apurinic or apyrimidinic site lyase 2;OTTHUMP00000023390;apurinic-apyrimidinic endonuclease 2;apurinic/apyrimidinic endonuclease-like 2;zinc finger, GRF-type containing 2 APPROVED protein-coding HGNC:17889 06442 300773 REVIEWED 1606343 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 784440 787076 + 20923290 20925931 + 20455131 20457772 + 2315676;2315657;2315665;2315666;2315662;2315686;2315670;2315671;2315672;2315673;2315675;2315878;2315663;2315667;2315656;2315660;2315661;2302852;1599366;2315691;6480464;6484113;6907045 11309329;11465542;11748448;11852039;15344903;15854596;15887293;16406883;17280489;17602955;17974506;18373555;18503157;18637713;18701435;19041121;19202550;19292061;19787261;9030714 10023679;10559261;10585464;10594042;10629618;10667800;10805771;10946230;11073998;11084372;11092888;11096142;11118054;11133992;11182545;11250913;11286553;11452037;11478795;11601988;11705870;11707423;11809897;11832948;11846302;11866537;11895912;12058277;12110916;12161506;12200445;12230304;12231548;12237116;12242029;12384995;12477932;12480540;12519758;12524539;12547389;12555094;12569263;12624104;12628186;12842873;1284593;12857737;12860125;12933815;12966083;1371347;1380454;1380694;1383925;14521941;14581338;14594818;14599768;14625810;14630715;14633989;14643949;14704345;14730972;14767913;15044328;15084314;15107486;15113441;15210853;15247342;15316562;15333465;15362040;15380100;15459284;15472121;15489334;15518571;15592455;15635413;15644200;15674341;15694346;15706084;15731342;15735682;15746160;15816625;15824325;15824742;15831793;15878096;15942031;16000577;16147991;16195237;16221808;1627644;16284386;16356936;16425270;16481227;16481390;16492928;16537925;16554306;16609022;16621887;16712791;16844323;16889694;16956909;16962936;16966185;16973282;16978929;16982113;17008916;17028303;17034901;17040931;17126083;17148573;17177211;1719477;17197435;17203305;17218168;17222938;1722334;17230526;17272283;17283177;17324338;17332344;17355977;17374727;17403694;17479230;17515960;17531525;17555083;17567600;17567611;17599408;17614107;17630376;17685223;17855454;17898541;17922186;17938202;17949784;17984110;17991492;18025089;18029348;18042731;18053222;18061304;18091433;18179823;18206643;18208837;18263880;18324520;18353858;18357393;18393760;18436236;18439621;18466396;18478337;18482781;18505345;18515104;18627000;18627350;18669164;18672023;18676680;18712175;18776186;18779313;18781797;18805789;18809583;18823566;18830263;18850631;18946634;18958420;18971960;18983843;18990748;19029194;19038866;19052983;19064572;19073198;19074850;19097035;19116388;19124499;19124501;19147860;19170196;19181704;19188437;19188445;19219073;19237606;19242824;19324449;19339270;19351502;19367277;19369898;19376732;19393248;19401441;19414392;19449863;19460860;19470598;19471022;19484131;19492297;19505873;19524065;19528510;19536092;19541747;19592152;19625176;19631633;19643912;19692168;19711438;19762350;19764832;19782121;19789190;19846872;19896490;19902366;19934257;20010699;20032196;20061190;20087352;20133634;20150366;20211142;20218738;20218899;20223788;20226869;20231292;20232390;20332233;20354815;20377204;20391347;20403997;20453000;20493910;20496165;20498636;20522537;20530453;20534262;20540786;20574454;20577654;20601096;20606276;20633698;20634891;20644561;20679741;20696907;20699270;20720310;20731661;20808930;20817763;20852942;20856196;20919954;20929586;20955519;21030352;21037106;21044950;21110914;21132382;21139048;21198260;21323960;21420246;21429202;21451252;21467074;21479902;21538578;21561390;21615620;21722819;21727086;21756546;21769563;21778470;21832049;21865600;21900206;21906983;21912662;21933813;21935361;21987080;22024594;22148505;22174317;22176746;22193858;22205985;22224629;22243137;22306120;22329793;22362780;22371940;22379092;22384055;22493391;22580151;22652909;22688662;22713458;22863883;22918947;22939629;23038158;23065211;23074184;23094050;23110144;23143180;23268706;23272074;23315699;23355472;23369758;23382073;23408843;23418439;23430444;23479135;23485469;23505922;23544830;23581410;23602568;23643942;23665318;23669291;23749940;23776569;23781133;23831574;23834463;23846616;23871947;23874636;23874853;23879289;23898172;23934858;23994194;24023291;24076439;24079850;24127576;24209961;24213673;24254302;24257553;24284961;24297337;24310503;24311596;24329908;24332808;24349526;24375045;24381055;24385289;24400589;24414702;24515769;24523018;24703901;24705777;24816145;24848015;7961715;8086453;8619474;8621488;8932375;8942627;9108029;9110174;9119221;9207062;9351835;9361024;9560228;9870152 328 G3V2D9;G3V359;G3V3C7;G3V3M6;G3V3Y6;G3V574;G3V5D9;G3V5M0;G3V5Q1;H7C4A8;P27695;Q5TZP7 ABBA01061230;AF488551;AI554786;AK098588;AK291100;AL355075;AMYH02028824;BC002338;BC004979;BC008145;BC019291;BC095428;BT007236;BT020133;BX161454;CB139337;CH471078;D13370;D90373;M80261;M81955;M92444;M99703;NG_008718;NM_001244249;NM_001641;NM_080648;NM_080649;S43127;U79268;X59764;X66133;XM_005267581;XM_005267582 AAA58371;AAA58372;AAA58373;AAA58629;AAB22977;AAB50212;AAH02338;AAH04979;AAH08145;AAH19291;AAH95428;AAL86909;AAP35900;AAV38935;ABM82740;ABM85924;BAA02633;BAA14381;BAF83789;CAA42437;CAA46925;CAD61917;EAW66463;EAW66464;EAW66465;EAW66466;EAW66467;EAW66468;NP_001231178;NP_001632;NP_542379;NP_542380;P27695;XP_005267638;XP_005267639 Hs.73722 1744369;1797290;2113864;2170932;2174947;2186296 APEX;APEX1_1488.2;D2S2636;GDB:451907;SHGC-36712;WI-18729 APE;APE1;APEN;APEX;APX;HAP1;REF1 AP endonuclease 1;AP endonuclease class I;AP lyase;DNA-(apurinic or apyrimidinic site) lyase;OTTHUMP00000163988;OTTHUMP00000163989;OTTHUMP00000244791;OTTHUMP00000244792;OTTHUMP00000244793;OTTHUMP00000244795;OTTHUMP00000244796;OTTHUMP00000244798;OTTHUMP00000244800;OTTHUMP00000244801;apurinic-apyrimidinic endonuclease 1;apurinic/apyrimidinic (abasic) endonuclease;apurinic/apyrimidinic exonuclease;deoxyribonuclease (apurinic or apyrimidinic);multifunctional DNA repair enzyme;protein REF-1;redox factor 1;redox factor-1 APPROVED protein-coding ENSG00000100823 HGNC:587 00136 107748 REVIEWED 1603043 APIP APAF1 interacting protein APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008] 11 11 11 p13 35051185 35085276 - 34903842 34937939 - 34882295 34916411 - 6480464;6907045 10810093;12477932;15262985;15489334;16189514;16344560;17207965;19060904;19322201;20800603;21139048;21382349;21602797;22407486;22837397;23144326;23192037;23285211;24367089;24654937;8125298 51074 Q96GX9;S4R3D6 ABBA01060863;AC107928;AF088034;AF132963;AK225249;AK226157;AK292648;AK302225;AMYH02024591;BC008440;BC009077;BC017594;BP200131;CH471064;DA729016;NM_015957 AAD27738;AAH08440;AAH09077;AAH17594;ADQ32639;BAF85337;BAG63579;EAW68161;NP_057041;Q96GX9 Hs.447794 1659304;1707728;5015961;5022322;5109281 D11S2560;D15S1477;D1S1425;SHGC-82079;WI-20739 APIP2;CGI-29;CGI29;MMRP19;dJ179L10.2 APAF1-interacting protein;MTRu-1-P dehydratase;OTTHUMP00000232946;hAPIP;methylthioribulose-1-phosphate dehydratase;probable methylthioribulose-1-phosphate dehydratase APPROVED protein-coding ENSG00000149089 HGNC:17581 14725 612491 VALIDATED 1349695 APH1A APH1A gamma secretase subunit This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011] 1 1 1 p36.13-q31.3 123353530 123357263 - 150237799 150241609 - 150265399 150269209 - 2302204;6480464;6484113;6907045 17761886 10810093;12110170;12297508;12471034;12477932;12522139;12679784;12740439;12763021;12787561;12843241;12857757;12917438;12972157;12975309;14572442;14593096;14627705;14702039;15210705;15257293;15274632;15286082;15322084;15322109;15474363;15489334;15629423;15721744;16303743;16344560;16630834;16641999;16757808;17059559;17207965;17986144;18801744;19028695;19322201;19368855;19369254;19946888;20145246;20299451;20379614;20674680;21123562;21443683;21890473;21988832;22771797;23253155;23291095;23864651 51107 B4DUG7;Q5TB21;Q96BI3 ABBA01049330;AC242988;AF151835;AF508787;AK027879;AK075295;AK075452;AK125685;AK297680;AK298832;AK298876;AK300640;AK307358;AK314490;AL138795;AX775955;AX775957;AY113698;AY113699;AY358951;BC001230;BC008732;BC009501;BC015568;BC017699;BC020590;BC068606;BI760743;CH471121;CQ783433;DA589586;DC365601;NG_029952;NM_001077628;NM_001243771;NM_001243772;NM_016022;NR_045033;NR_045034;NR_045035;XM_006711362 AAD34072;AAH01230;AAH08732;AAH09501;AAH15568;AAH17699;AAH20590;AAM61955;AAM61956;AAN63816;AAQ89310;ADQ31632;ADZ15886;ADZ16087;BAC11529;BAG51389;BAG52142;BAG60040;BAG60962;BAG60993;BAG62329;CAE11677;CAE11678;CAF86638;CAI22811;CAI22812;CAI22813;EAW53565;EAW53566;EAW53567;NP_001071096;NP_001230700;NP_001230701;NP_057106;Q96BI3;XP_006711425 Hs.108408;Hs.735911 1652765;1655085;1671882;2150844;2218232;5491270 A004F41;APH-1A__4340;D13S1659;MARC_7139-7140:992008251:1;SGC31751;SHGC-32182 6530402N02Rik;APH-1;APH-1A;CGI-78 OTTHUMP00000014528;OTTHUMP00000014529;OTTHUMP00000037716;anterior pharynx defective 1 homolog A;aph-1alpha;gamma-secretase subunit APH-1A;presenilin-stabilization factor APPROVED protein-coding ENSG00000117362 HGNC:29509 607629 REVIEWED 1320288 API5 apoptosis inhibitor 5 This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 11 p11.2 43480519 43513094 + 43333505 43366080 + 43311955 43344530 + 1643340;6480464 10780674 10393420;11075807;11555636;12477932;12703993;14702039;15489334;15635413;16083285;16344560;17081983;17112319;18029348;18319255;19322201;19387494;19661379;19734545;19821157;19946888;20671611;21110914;21139048;21145461;21890473;22145905;22334682;22863883;22939629;23000965;23824909;23940755;24457600;24785373;24816145;9307294 8539 B4DDR3;B4E283;E9PQK6;G3V1C3;H0YER7;Q9BZZ5 ABBA01060781;AC087276;AF229253;AF229254;AK021649;AK293303;AK294724;AK299288;AK304157;AMYH02024673;AY265973;AY311389;BC015898;BC017709;BF115210;BM193468;BT007093;CH471064;CK904611;DA104687;DC334531;NG_029841;NM_001142930;NM_001142931;NM_001243747;NM_006595;NR_024625;U83857;XM_006718359;Y15906 AAB86528;AAH17709;AAK00737;AAK00738;AAO89077;AAP35756;AAQ76714;ABM81597;ABM84778;BAG56824;BAG57871;BAG61304;BAG65045;CAA75867;EAW68098;EAW68099;NP_001136402;NP_001136403;NP_001230676;NP_006586;Q9BZZ5;XP_006718422 Hs.435771 1671808;1702552;1748667;5016963;5023279;5124005 GDB:451846;RH11873;RH36898;RH65627;RH69526;SHGC-110333 AAC-11;AAC11;API-5;FIF;FLJ11587 OTTHUMP00000232785;OTTHUMP00000232786;OTTHUMP00000232787;OTTHUMP00000232791;OTTHUMP00000232792;antiapoptosis clone 11 protein;cell migration-inducing gene 8 protein;fibroblast growth factor 2-interacting factor 2;migration-inducing protein MIG8 APPROVED protein-coding ENSG00000166181 HGNC:594 16500 609774 REVIEWED 5013857 APITD1-CORT APITD1-CORT readthrough This locus represents naturally occurring read-through transcription between the neighboring APITD1 (apoptosis-inducing, TAF9-like domain 1) and CORT (cortistatin) genes. Alternative splicing results in multiple transcript variants, two of which encode fusion proteins that share sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2011] 1 1 p 10490159 10512060 + 10430102 10452003 + 6480464 11181995;15328517;20967262;24250222;8889548 100526739 Q8N2Z9;R4GMN7 AA858169;ABBA01035603;AF516753;AF521016;AL139424;AL354956;AMYH02000267;AMYH02000268;CF127457;CF128105;CH471130;HY054077;NM_001243768;NM_001270517;NM_198544;NM_199006;NR_037187 AAM61954;AAM70482;CAI19200;CAI19201;EAW71649;EAW71651;EAW71653;NP_001230697;NP_001257446;NP_940946;NP_950171 Hs.412311 KIAA0591 APITD1-CORT read-through;OTTHUMP00000065120;OTTHUMP00000222023 APPROVED protein-coding ENSG00000175279;ENSG00000251503 HGNC:38843 REVIEWED 4144507 API5P2 API5 pseudogene 2 2 2 2 q31.2 172462384 172466442 - 178859544 178863604 - 177994817 177998877 - 728664 ABBA01062241;AC011998;AMYH02005322;NG_009199;NG_012168 1702552 GDB:451846 pseudo HGNC:39070 INFERRED 1344589 APH1B APH1B gamma secretase subunit This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011] 15 15 15 q22.2 40448497 40480071 + 63569749 63601325 + 63277550 63309126 + 2302204;6480464;6484113 17761886 11076863;11230166;11256614;12110170;12297508;12471034;12477932;12740439;12763021;12787561;12843241;12857757;12975309;14702039;15286082;15474363;15489334;15489336;15591316;15629423;15721744;15823552;16344560;16381901;16630834;16757808;17466415;17986144;18987747;19774691;21890473;21906983;21963094;23665252 83464 H0YKZ9;H0YLT0;H0YM95;Q4R1J8;Q8WW43 AA808355;AB189172;AB197122;ABBA01038913;AC016207;AF508794;AI693802;AK057677;AK291204;AK307456;AK307725;AK310843;AL136671;AMYH02030584;AY358698;BC020905;BI825203;CH471082;DA397427;NM_001145646;NM_031301 AAH20905;AAN63817;AAQ89061;ABM82327;BAD95573;BAE02660;BAF83893;CAB66606;CAL37602;CAL37756;EAW77644;EAW77645;NP_001139118;NP_112591;Q8WW43 Hs.511703 1664853;1715165;1736534;1779062;2180977 A007E02;D15S734E;RH119833;STS-N31710;WI-10749 APH-1B;DKFZp564D0372;FLJ33115;PRO1328;PSFL;TAAV688 OTTHUMP00000163761;anterior pharynx defective 1 homolog B;anterior pharynx defective 1B-like;aph-1beta;gamma-secretase subunit APH-1B;presenilin stabilization factor-like;presenilin-stabilization factor-like APPROVED protein-coding ENSG00000138613 HGNC:24080 06361 607630 VALIDATED 733537 APLNR apelin receptor This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009] 11 11 11 q12 54360003 54363879 - 57001051 57004927 - 57233577 57237453 - 1580863;1304466;2313945;6480464;8554872 14645236;17692936 10737800;11004481;11040134;11250876;12477932;12603839;12667811;14622440;14675627;14702039;15087458;15489334;15664671;16303743;17128405;17309882;17412318;17826642;18240029;18401529;18577758;19069168;19123778;19307984;19527631;19680269;19926159;20055692;20099713;20125035;20220056;20224560;20353754;20485192;20675385;20921899;21233449;21412239;21450694;22037214;22109355;22112232;22611158;22842622;22995518;23226564;23438363;23844873;8294032;8889548;8971794;9653051;9736741;9792798 187 B2RDH3;B3KQN4;P35414 ABBA01021468;AK074514;AK075252;AK097232;AK315542;AL548962;AL553350;AMYH02024839;AP001786;BC032688;BI004477;BM698661;BX439288;CH471076;NM_005161;NR_027991;U03642;X89271 AAA18954;AAH32688;ABM81770;ABW03307;BAC11032;BAG37920;BAG52096;BAG53437;CAA61546;EAW73730;NP_005152;P35414 Hs.438311 1651306;1732784;1754009;1772585;1791432;2113962;2151727 A004D04;AGTRL1;D11S1946E;D11S4599;PMC110125P1;RH70528;SHGC-132053 AGTRL1;APJ;APJR;FLJ90771;FLJ96609;HG11;MGC45246 APJ (apelin) receptor;APJ receptor;G protein-coupled receptor APJ;G-protein coupled receptor APJ;G-protein coupled receptor HG11;HG11 orphan receptor;angiotensin II receptor-like 1;angiotensin receptor-like 1 APPROVED protein-coding ENSG00000134817 HGNC:339 02503 600052 REVIEWED 736696 APLP1 amyloid beta (A4) precursor-like protein 1 This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 33073585 33084883 + 36358806 36370699 + 35868499 35879797 + 734581;1580863;6480464;8554872 8432545 10081969;10460257;10578233;11247302;12135352;12228233;12477932;12779321;14563850;14597230;14699153;14702039;14970212;14983046;15146195;15208260;15383276;15489334;16169070;16193067;16344553;16531006;17620599;17709753;18272596;18430897;19126676;19401174;20049724;21178287;21574595;21900206;21952790;22178872;23864651;23874953;7494461;7929392;8894693;9428684;9521588;9729270;9890987 333 B7Z4G8;F5GZ08;K7ELK0;K7EMN4;K7EMS1;K7EQJ4;P51693;S4R3U6 ABBA01018771;ABBA01018772;AD000864;AK092376;AK126907;AK297339;AK297640;AK312292;AMYH02035992;BC012889;BC013850;BC032983;BQ219233;EF036503;NM_001024807;NM_005166;U48437 AAB50173;AAB96331;AAH12889;ABM82267;ABM85449;ABO65089;BAG35219;BAH12554;BAH12638;NP_001019978;NP_005157;P51693 Hs.74565 1654648;1730237;2111113;2160136;2174267;5015861;5020242;5020948;5022651;5037552;7185938;7187020 D10S16;D11S2612;D11S2921;D19S237E;D1S357E;D8S2279;G35510;HSC0VF102;RH66352;SHGC-4198 APLP;APLP-1 amyloid precursor-like protein 1;amyloid-like protein 1 APPROVED protein-coding ENSG00000105290 HGNC:597 00102 104775 REVIEWED 1318897 APMAP adipocyte plasma membrane associated protein ENCODES a protein that exhibits arylesterase activity; INVOLVED IN biosynthetic process (inferred); FOUND IN cell surface; extracellular vesicular exosome; membrane; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2,3,7,8-tetrachlorodibenzodioxine; disodium selenite 20 20 20 p11.2 25017384 25047231 - 24943566 24973610 - 24962930 24992974 - 6480464 10945474;11583587;11780052;12477932;12754519;12975309;14702039;15489334;16169070;16335952;17207965;18513186;20552250;21139048;21890473;21906983;21988832;22267596;22268729;22304920;22797925;23000965;24583282;24654937;24816145;8889548 57136 H0Y512;Q9HDC9 AB033767;ABBA01048732;AK025834;AK026866;AK291129;AK301959;AL035661;AMYH02036843;AY359076;BC003501;BG773501;CF131759;CH471133;KF456874;NM_020531;XM_005260763 AAH03501;AAQ89435;ADQ31753;BAB11885;BAB15253;BAB15578;BAF83818;BAG63373;EAX10113;EAX10114;NP_065392;Q9HDC9;XP_005260820 Hs.472330 1682672;1683337;1685437;1687373;1688271;1688382;1689223;1712066;1735010;1774757;2120624 A002G20;Bda02b03;D20S566E;G54080;IB2318;RH1693;RH39021;RH39025;RH45409;RH71149;RH76356 BSCv;C20orf3 OTTHUMP00000030464;OTTHUMP00000164236;adipocyte plasma membrane-associated protein APPROVED protein-coding ENSG00000101474 HGNC:13238 09840 615884 VALIDATED 1344091 APLF aprataxin and PNKP like factor C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008] 2 2 2 p13.3 68544671 68657741 + 68694691 68839361 + 68467559 68580162 + 6480464;8662352;9068945;8554872 20192759;23288364 12477932;14702039;15489334;15815621;16344560;17353262;17396150;17507382;18077224;18172500;18474613;19155274;19661379;20098424;21211721;21211722;21414327;21832049;21885877;22190364;23178593;23689425;23926104;23940030;24250222 200558 E9PRH6;F8WET0;Q8IW19 ABBA01075486;ABBA01075487;ABBA01075488;ABBA01075489;ABBA01075490;AC105054;AC127383;AC130709;AK290841;AK308186;AMYH02004015;BC030711;BC041144;CH471053;DA641644;NM_173545 AAH41144;AAY14945;AAY24008;AAY24113;BAF83530;EAW99871;EAW99872;NP_775816;Q8IW19 Hs.720369 1668923;2182731 D2S2874;RH17523 APFL;C2orf13;FLJ16593;MGC47799;PALF;Xip1;ZCCHH1 OTTHUMP00000159966;PNK and APTX-like FHA domain-containing protein;PNK and APTX-like FHA protein;XRCC1-interacting protein 1;aprataxin and PNK-like factor;aprataxin- and PNK-like factor;apurinic-apyrimidinic endonuclease APLF;zinc finger, CX5CX6HX5H motif containing 1 APPROVED protein-coding ENSG00000169621 HGNC:28724 09848 611035 VALIDATED 1602808 APITD1 apoptosis-inducing, TAF9-like domain 1 This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010] 1 1 1 p36.22 9601550 9623464 + 10489944 10510239 + 10430102 10442815 + 6480464 11329013;12477932;15328517;15740626;16622419;16622420;17207965;17962439;19620631;19913121;20347429;20628086;21832049;21890473;22510687;22705371;23000965;23886707;24250222;24256282;24522885;24816145;8889548 378708 K7ESB0;Q8N2Z9 ABBA01035603;AL354956;AMYH02000267;AMYH02000268;BC029430;BE858209;BG213105;BG546364;BM905996;BU902753;CA311915;CH471130;NM_199294;NR_036462 AAH29430;ADQ32275;CAI19199;EAW71654;NP_954988;Q8N2Z9 Hs.412311 2218416 CORT_4621 CENP-S;CENPS;FAAP16;MGC32686;MHF1 FANCM-interacting histone fold protein 1;Fanconi anemia-associated polypeptide of 16 kDa;OTTHUMP00000065118;OTTHUMP00000065120;OTTHUMP00000222023;apoptosis-inducing TAF9-like domain-containing protein 1;centromere protein S APPROVED protein-coding HGNC:23163 609130 REVIEWED 1351986 APLN apelin This gene encodes a peptide that functions as an endogenous ligand for the G protein coupled receptor APJ. The encoded protein is synthesized as a prepropeptide that is processed into biologically active C-terminal fragments. The peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1.[provided by RefSeq, Feb 2010] X X X q25 129165798 129175495 - 128779236 128788933 - 129645259 129654956 - 632245;632246;1304466;1580863;1626175;1626176;1626170;1626174;1626186;1626173;1626171;1600932;1626177;2313938;2313942;2313944;6480464 10525157;14645236;15664402;15970339;16263185;16278229;16674982;17055480;17119870;17391779;17594060;18484561;19015606;19756893;9792798 10617103;11040134;11090199;12477932;12603839;12798955;12914775;12963638;12975309;14702039;15231996;15489334;15664671;15677759;15772651;16115460;16563531;16723381;17060400;17128405;17177135;17412318;17823846;17826642;17906101;18240029;18272843;18401529;18505110;18577758;18617693;18772060;18816630;18845302;19060904;19100414;19123778;19307984;19344973;19527631;19567136;19597036;19643928;19766342;19804703;19913121;19926159;19940213;20045153;20055692;20099713;20220056;20224560;20382684;20485192;20495838;20504125;20580037;20581707;20610231;20628086;20652246;20662349;20669343;20675385;20676956;20813143;20843995;20864562;20943064;21158215;21233449;21264801;21358603;21412239;21448846;21521329;21575945;21609753;21631898;21775567;21821917;21864607;22007137;22037214;22200678;22203468;22209991;22285858;22360921;22505607;22533552;22611158;22676366;22699819;22780711;22884920;22895257;22927708;22944040;22995518;23226564;23227256;23227848;23296045;23314958;23316219;23318714;23406471;23422767;23429279;23437347;23476106;23484462;23515451;23557907;23577111;23817469;23844873;23950038;23973863;24032577;24089668;24362107;24433492;24736484 8862 B2R550;Q9ULZ1 AB023493;ABBA01047827;AF086248;AF179680;AK001855;AK312061;AL022162;AMYH02040464;AY358657;BC021104;BM992527;CH471107;DB481574;NG_016718;NM_017413 AAF25815;AAH21104;AAQ89020;ABM83051;ABM86244;BAA84975;BAG34997;EAX11828;EAX11829;NP_059109;Q9ULZ1 Hs.303084 1689851;2114763;2217018 APLN_3269;RH18197;RH91453 APEL;XNPEP2 AGTRL1 ligand;APJ endogenous ligand APPROVED protein-coding HGNC:16665 02246 300297 REVIEWED 731852 APLP2 amyloid beta (A4) precursor-like protein 2 This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 11 q24 127107986 127182408 + 129939716 130014706 + 130069821 130144811 + 1580863;734582;6480464 8086458 10081969;10460257;10490823;10702673;11247302;11443060;11746496;12228233;12372026;12477932;12499552;12595709;12917434;14597230;14699153;14702039;14970212;14983046;15146195;15208260;15231748;15489334;15584916;15778465;16193067;16279945;16622416;16645641;17371289;17405931;17452623;17709753;18452037;18641335;19019082;19126676;19184004;19199708;19322201;19808674;19946888;20195357;20379614;20732423;20936779;21081666;21103663;21139048;21178287;21459473;21522131;21695060;21826533;21875946;21890473;21906983;21952790;21963094;21987572;21988832;22641691;22797723;23000965;23430252;25015289;25027693;7539437;7702756;7929392;8020984;8125298;8220435;8485127;8855266;8894693;9109675;9461550;9556595 334 B4E3I5;E9PK76;E9PPD0;E9PQS3;E9PSC7;Q06481;Q9UED0 AB015751;ABBA01023029;ABBA01023030;AF168956;AK056883;AK122834;AK124457;AK128162;AK225283;AK296765;AK300378;AK304736;AK308248;AK308932;AMYH02025784;AMYH02025785;AMYH02025786;AP001183;AP003041;BC000373;BC004371;BM992563;BX647107;CH471065;DC336210;L09209;L19597;L23113;L23114;L27631;NG_029770;NM_001142276;NM_001142277;NM_001142278;NM_001243299;NM_001642;NR_024515;NR_024516;S60099;Z22572 AAA35526;AAA35601;AAA36032;AAA36130;AAC41701;AAC60589;AAD47291;AAH00373;AAH04371;ABW03428;ABW03750;BAA34958;BAG54641;BAG59345;BAG62113;BAG65497;CAA80295;EAW67768;EAW67769;EAW67770;EAW67771;EAW67772;EAW67773;EAW67774;NP_001135748;NP_001135749;NP_001135750;NP_001230228;NP_001633;Q06481 Hs.370247 1682559;1732782;1767910;1774254;1782384;2164644;2175794;2181926;5014051;5037552 D11S1945E;D11S3981;D8S2278;D8S2279;RH11795;RH27778;SGC44685;SHGC-153998;SHGC-30035;SHGC-52431 APLP-2;APPH;APPL2;CDEBP CDEI box-binding protein;OTTHUMP00000230926;OTTHUMP00000230927;OTTHUMP00000230928;OTTHUMP00000230929;OTTHUMP00000230930;amyloid precursor protein homolog HSD-2;amyloid protein homolog;amyloid-like protein 2 APPROVED protein-coding ENSG00000084234 HGNC:598 00103 104776 REVIEWED 737360 APOA2 apolipoprotein A-II This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008] 1 1 1 q23.3 134259238 134260561 - 161192083 161193418 - 161222293 161223628 - 1599158;1599161;1300287;1601191;1601190;1580863;1578416;2313955;2313956;2313960;2313961;2313962;2313957;2313959;2313958;6480464;7240710;8554872 11126402;11246886;12738753;1466661;16011471;17923573;19817643;2123716;9002300;9489233;9578960;9649952;9829487;9933608 10722751;10764676;11162594;11551871;11591715;11714842;11971944;11991719;12032642;12116231;12116266;12136239;12136402;12269810;12458630;12477932;12522687;12562854;12576517;12642785;12690114;12692552;12959642;14650352;14718574;14967812;14988251;15174051;15247216;15388641;15489334;15833935;15922294;1606170;16254078;16368749;16407233;16682745;16710414;16990646;17264082;17446329;17652309;17709437;17786215;18179799;18269685;18636124;18652418;18660489;18676680;18766253;19056867;19069164;1908160;19170196;19193611;19216768;19285487;19336475;19423540;19618959;19625176;19635584;19651918;19692168;19778946;19878569;19901143;19910634;19913121;19948975;20022911;20031551;20331378;20406964;20430392;20438785;20602615;20628086;20679960;20855565;20975728;210174;2107739;21103663;21300819;21386805;21501035;218942;22235130;22723940;23025327;23241412;23620136;23631828;23883582;24012775;24089247;24108135;24116940;2414299;2415515;2989800;2995928;3088392;3104518;3136074;3935800;4338591;4344225;4345202;6089788;6090207;6315718;6328445;6407957;6428397;6433912;6438100;6789904;6816269;7518568;7918467;8106353;8245722;8636092;8640403;9469594;9651324 336 D3DVG8;P02652;Q76EI7;V9GYC1;V9GYE3;V9GYG9;V9GYM3;V9GYS1 AB106565;ABBA01016596;AC243898;AK312034;AL590714;AY100524;BC005282;BT006786;CH471121;M29882;NG_012043;NM_001643;X00955;X02619;X02905;X04898 AAA51701;AAH05282;AAM49807;AAP35432;ABM83419;ABM86631;BAD05173;BAG34971;CAA25467;CAA26474;CAA26665;CAA28583;EAW52618;EAW52619;EAW52620;EAW52621;EAW52622;NP_001634;P02652 Hs.237658 1682866;2140058;2149301;2156650 APOA2;SHGC-17;SHGC-2468;SHGC-32683 Apo-AII;ApoA-II;apoAII OTTHUMP00000032244;apolipoprotein A2 1643243;2314798;2314801;2315058;2315765;2315816;2316879 BW132_H;GLUCO117_H;GLUCO120_H;GLUCO133_H;GLUCO149_H;GLUCO177_H;GLUCO304_H APPROVED protein-coding ENSG00000158874 HGNC:601 00129 107670;143890 REVIEWED 736126 APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. [provided by RefSeq, Jul 2008] 12 12 12 p13.1 9377416 9393928 - 7801996 7823195 - 7649400 7670599 - 1580863;1626277;1626278;625559;1578416;6480464;8554872 11116209;12020819;16011471;8781289 10669759;10781591;11134005;11352648;11577082;11584023;11698249;11727199;11815617;12477932;12683974;12881431;12896982;14559896;15516966;15659357;15979078;16999936;17696929;18051367;18971252;19911124;19913121;19932086;19965785;20331378;20348446;20628086;7698776;7736571;8078915;8208612;8692961;8999813;8999814;9186903;9479499 339 P41238;Q4VB33 AB009426;ABBA01012203;ABBA01012204;AC006927;AI862416;AMYH02025968;AMYH02025969;AMYH02025970;BC096158;BC096159;BC096160;BC096161;BC101404;BC101405;BC101972;BC101973;BC144708;CH471116;L25877;L26234;NM_001644;U72890;U72891;U78720;XM_005253355;XM_005253356 AAA64230;AAA86766;AAD00185;AAD09567;AAD10701;AAH96158;AAI01973;AAI01974;AAI72305;BAA23882;EAW88660;EAW88661;NP_001635;P41238;XP_005253412;XP_005253413 Hs.560 APOBEC-1;BEDP;CDAR1;HEPR C->U-editing enzyme APOBEC-1;OTTHUMP00000180598;apolipoprotein B mRNA editing enzyme complex-1;apolipoprotein B mRNA-editing enzyme 1 APPROVED protein-coding ENSG00000111701 HGNC:604 02531 600130 REVIEWED 737553 APOA4 apolipoprotein A-IV Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008] 11 11 11 q23 113849234 113851827 - 116691418 116694011 - 116820702 116823295 - 1578411;1331525;1580863;1578416;1578442;5685680;5685681;5685682;5685641;5685646;5685649;5685660;5685638;5685661;5685691;5685637;5147768;5685642;5685665;5685692;5685679;5685648;5685659;5685662;5685673;5685694;5685702;2311210;6480464;5685683;5685688;5128563;5685667;5685672;5685678;5685658;8699517 10428310;10559562;10892728;11555832;12676816;12836058;15118671;15254593;16011471;16013913;16372267;16815451;17206692;18061280;18343991;19081814;19379511;19383442;19589605;20367977;2050689;20580919;20810159;21078314;2120218;21297956;21356380;21569504;2167514;22146476;226830;7958503;9013087;9272683 10069372;10391210;11108737;11162594;11181750;11254757;11472750;11583715;11592042;11841825;11940599;11941585;11952809;12082592;12116231;12121350;12220435;12417525;12477932;12495081;12556235;12664082;12691171;12692552;12697303;12777472;12860258;12962772;1349197;14718574;14751811;1487136;15108119;15174051;15175360;15252864;15258202;15304365;15311933;15359534;15488874;15489334;15559160;15649902;15721024;15764642;15806598;15823278;15864114;15868628;15910632;15928313;15962178;16030523;16105043;16120654;16159879;16321685;16326171;16338932;16602826;16651467;16710093;16763159;16770585;1677358;16781717;16788210;16929032;16945374;17130180;17154273;17261136;1737067;17378725;17457002;17654446;17712726;17825930;17855807;17964293;18029348;18193043;18193044;18430727;18513389;18636124;18660489;18664021;18676680;18678879;18789138;18948973;18996102;19057464;19060906;19060911;19074352;19131662;19166692;19170196;19263529;19336370;19336475;19336561;1935934;19403283;19433068;19592705;19625176;19689828;19692168;19701693;19732897;1973689;19878569;19913121;19948975;20031551;20117098;20139978;20164363;20430392;20554794;20602615;20609189;20628086;2065039;20674306;20686565;20714348;20864672;21127258;21324458;21378990;21407247;21712729;21767760;21909109;2216752;22286219;22916037;2307668;23096082;23132909;23288849;2331673;23338533;23505323;2351649;24211975;24311788;24386095;24425874;24606699;2930771;3036793;3080432;3095477;3095836;3611972;3755616;3931073;4345202;6706947;7728150;8688083;8956036;9988739 337 P06727;Q13784 ABBA01039746;AL531739;AMYH02025622;AP006216;AY422950;AY555191;BC074764;BC113594;BC113596;CH471065;J02758;M10373;M13654;M14566;M14642;NG_012044;NM_000482;X13629 AAA51744;AAA51745;AAA51748;AAA96731;AAB59516;AAH74764;AAI13595;AAI13597;AAQ91809;AAS68228;ADR82972;ADR83153;CAA31955;EAW67271;NP_000473;P06727 Hs.1247 1694944;1741807;1741955;1744729;1816102;1816280;1817652;1822700;1837992;2004154;2004156;2004158;2004160;2004162;2004164;2004166;2004168;2004170;2004172;2004174;2004176;2004178;2004180;2004182;2004184;2096962;2096964;2096966;2159678 ECD09091;ECD09182;ECD09878;ECD12438;ECD20167;G44371;GDB:185195;GDB:187004;GDB:555472;REN72989;REN72990;REN72991;REN72992;REN72993;REN72994;REN72995;REN72996;REN72997;REN72998;REN72999;REN73000;REN73001;REN73002;REN73003;REN73004;WI-19503;stSG601802;stSG601803;stSG601804 MGC142154;MGC142156 OTTHUMP00000043267;apo-AIV;apoA-IV;apolipoprotein A4 2289454 BW298_H APPROVED protein-coding ENSG00000110244 HGNC:602 00130 107690 REVIEWED 736192 APOA5 apolipoprotein A-V The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009] 11 11 11 q23 113815476 113818526 - 116660086 116663136 - 116789367 116792420 - 631983;70662;1578411;1578414;1331525;1578412;1578416;2313317;2313314;2313328;2313315;2313318;2313319;2313321;2313322;1601661;6480464;7240710;8554872;8699517 11577099;11588264;12676816;12818421;15118671;15177130;15306190;15941710;16011471;16039297;16238453;17087641;17548321;18468520;18789138;19107359 12417270;12417524;12417525;12436249;12477932;12615678;12637506;12671030;12697303;12709436;12747596;12752569;12810715;12899628;12915450;12920097;12937897;12951359;12975309;14613578;14729863;14732475;14959997;14984471;15046561;15108119;15117734;15131258;15135251;15151505;15157276;15178420;15300628;15317819;15342688;15369751;15447887;15489334;15528295;15542401;15591215;15604515;15636639;15649902;15684402;15781255;15790933;15841042;15857156;15877284;15878877;15924804;15941721;15952115;15996212;16006256;16046221;16051671;16054149;16143024;16192625;16258166;16311097;16321685;16325772;16344560;16375582;16386723;16386743;16401313;16410456;16448983;16474174;16510431;16531747;16636175;16670016;16682041;16687148;16710093;16763159;16769999;16777114;16781717;16806135;16806226;16861622;16887900;16917759;16943456;16954607;17032446;17142127;17157483;17183147;17197160;17211608;17222847;17326667;17356049;17378725;17431185;17457003;17460328;17485571;17493548;17495607;17548323;17635078;17693622;17700364;17705673;17717288;17722232;17726453;17766366;17768309;17855807;17922054;17922432;17936576;17957227;17964293;17997385;18056685;18078817;18087544;18159097;18179892;18193043;18193044;18193158;18206649;18263854;18274205;18274806;18302531;18395529;18424353;18441017;18537870;18543217;18549811;18572192;18577813;18579034;18596051;18601597;18601598;18603531;18607181;18635818;18658049;18660489;18678879;18779834;18801202;18946207;18974842;19018513;19034316;19055447;19056482;19056598;19057464;19060906;19060911;19074352;19121291;19141870;19148283;19150068;19159622;19185284;19185864;19187029;19207029;19253837;19336370;19336475;19343127;19344899;19362162;19403283;19410254;19447388;19530961;19534808;19567162;19578796;19592705;19629056;19656773;19665689;19692219;19701693;19732897;19765959;19825998;19828688;19847674;19878569;19910639;19913121;19915960;19932084;19948975;20031591;20047745;20054229;20059973;20134407;20137539;20139978;20160193;20170397;20303129;20304614;20331378;20392444;20395964;20400780;20413122;20429872;20430392;20442857;20452521;20469899;20480398;20490738;20571505;20604726;20628086;20634891;20657596;20674306;20679960;20686565;20688329;20696075;20708914;20714348;20802161;20838585;20855565;20864672;20869952;20883102;20966404;21033077;21054477;21130994;21132386;21143013;21209257;21238903;21287515;21324458;21347282;21375366;21378990;21386085;21423763;21438666;21463987;21473680;21489765;21505768;21518542;21548985;21643755;21646779;21707471;21729881;21854571;21889769;21909109;21914952;21988832;21993410;22008704;22171074;22239554;22286219;22350263;22359512;22425169;22437554;22517333;22576629;22675253;22688093;22718631;22796346;22809445;22905904;22914552;22914599;22916037;22924697;22955952;23000161;23009782;23065249;23129316;23150946;23248205;23251661;23266809;23307945;23312054;23329134;23415427;23452379;23468858;23479152;23499587;23505323;23509746;23656756;23919616;23957007;23970179;24023260;24097068;24161374;24178511;24386095;24387992;24618354;24768220;25034063 116519 C9JZZ0;Q6Q788 ABBA01039747;AF202889;AF202890;AK292739;AK308047;AK315229;AMYH02025621;AP006216;AX061634;AX704795;AY358749;AY422949;AY555191;BC101787;BC101789;CH471065;DA641693;DB184692;EF444949;NG_015894;NM_001166598;NM_052968;XM_006718761 AAF25661;AAF25662;AAI01788;AAI01790;AAQ89109;AAQ91808;AAS68229;ACA05937;ACA05938;BAF85428;BAG37658;CAC24995;CAD88066;EAW67269;EAW67270;NP_001160070;NP_443200;Q6Q788;XP_006718824 Hs.283923 1803866;1804686;1805656;1805704;1811518;2004356;2004358;2004360;2004362;2004364;2004366;2004368;2004370;2004372;2004374;2004376;2004378;2004380;2004382;2004384;2004386;2004388;2004390;2004392;2004394;2004396;2004398;2096916;2096918;2096920 ECD02845;ECD03275;ECD03778;ECD03802;ECD06759;REN73090;REN73091;REN73092;REN73093;REN73094;REN73095;REN73096;REN73097;REN73098;REN73099;REN73100;REN73101;REN73102;REN73103;REN73104;REN73105;REN73106;REN73107;REN73108;REN73109;REN73110;REN73111;stSG601776;stSG601777;stSG601778 APOA-V;FLJ97995;MGC126836;MGC126838;RAP3;apo-AV APOAV;OTTHUMP00000043271;OTTHUMP00000069351;apolipoprotein A5;regeneration-associated protein 3 APPROVED protein-coding ENSG00000110243 HGNC:17288 06966 144650;145750;606368 REVIEWED 1312295 APOA1BP apolipoprotein A-I binding protein The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008] 1 1 1 q21 129632348 129634881 + 156561554 156564091 + 156591766 156594299 + 6480464 11991719;12477932;17521614;17533573;20000738;20634891;20855565;20877624;21139048;21890473;21900206;22360420;23719382;23793025;24250222 128240 Q5T3I3;Q5T3I4;Q8NCW5 ABBA01016653;AJ315849;AK294835;AK298222;AL365181;AMYH02001976;BC056917;BC100931;BC100932;BC100933;BC100934;BG723681;BQ430064;CH471121;NM_144772 AAH56917;AAI00932;AAI00933;AAI00934;AAI00935;BAG57944;BAG60492;CAC86580;EAW52941;EAW52942;EAW52943;NP_658985;Q8NCW5 Hs.528320 1666869;1677172;1722569;1730245;2140887;2184095 D5S449E;G60215;RH15878;RH83;WI-13531;WIAF-2182 AI-BP;AIBP;MGC119143;MGC119144;MGC119145;YJEFN1;yjeF_N1 NAD(P)H-hydrate epimerase;NAD(P)HX epimerase;OTTHUMP00000031989;OTTHUMP00000031990;OTTHUMP00000031991;apoA-I binding protein;apolipoprotein A-I-binding protein;yjeF N-terminal domain-containing protein 1 APPROVED protein-coding ENSG00000163382 HGNC:18453 16397 608862 REVIEWED 735962 APOA1 apolipoprotein A-I This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The protein promotes cholesterol efflux from tissues to the liver for excretion, and it is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. [provided by RefSeq, Jul 2008] 11 11 11 q23-q24 113864272 113866141 - 116706467 116708338 - 116835751 116837622 - 1578410;1599158;1599161;1600654;1331525;1601185;1601187;1601183;1601186;1601188;1580863;1578416;734583;1601184;1578442;2313959;2313960;2313961;2313962;2325756;2325757;2325758;2325759;2325183;5128563;5508213;5508214;5508218;5508219;5508212;5508215;5508216;5508222;5508220;5508221;6480464;6484113;6907045;7240710;7241209;7241214;7241571;7241572;7241573;7241574;7241575;7241576;7241577;7241852;7241863;7241864;2313652;7241867;7241868;7241869;7241855;7241207;7241208;7495790;8554872;8699517 10428310;12725089;1466661;15118671;16011471;16258026;16309370;17217166;17312459;17332923;17488882;17517342;18079481;18287885;18535924;18593575;18614621;19399409;19486127;19561306;19637234;19863188;20085559;20131231;20176799;20350318;20463180;20482780;20488818;20580919;20639628;20739292;20847045;2123716;2128269;21410987;21496341;21726101;21730889;22495291;22515595;22659101;23078847;23227448;23401751;2493483;3142462;7910586;9578960;9649952;9699897;9829487;9931341;9933608 10026251;10085035;10191289;10198255;10222237;10487826;10559507;10627502;10722751;1076467;10764676;10801839;10828089;10858436;11055796;11063469;11162594;11171287;11181747;11223438;11254757;11264435;11297421;11472750;11507973;11572515;11718686;11737222;11744719;11756058;11773045;11776109;11805090;11836686;11854286;11860752;11866037;11866932;11878923;11879189;11903341;11907138;11916081;11929608;11931574;11963567;11991719;12000358;12011770;12030900;12044583;12048121;12050338;12084722;12116231;12123106;12145244;12167653;12173940;12177172;12270762;12369845;12421824;12458630;12462973;12468059;12473160;12477932;12509922;12511593;12515395;12531890;12544508;12556235;12562854;12573451;12576517;12588323;12608057;12642784;12651854;12665801;12690114;12692252;12692552;12709430;12722515;12724319;12732844;12742997;12754494;12754559;12782148;12791946;12798568;12801612;12810715;12818417;12871600;12875674;12928428;12952980;12962772;12964943;12966036;12974138;14510906;14559902;14563824;14567398;14580163;14592845;14609337;14630798;14660648;14665416;14666619;14701824;14703508;14718538;14718574;14729861;14734645;14741338;14746139;14747463;14967052;14967812;14986172;14988232;15001567;15020600;1502149;15036610;15051721;15060083;15066991;15108119;15115711;15174051;15177130;15188057;15218078;15242863;15258834;15280376;15292375;15297675;15304365;15314690;15334687;15358760;15359539;15362856;15464323;15474503;15476409;15488874;15489334;15498766;15533931;15540281;15574409;15584908;15585206;15649902;15654128;15654758;15657615;15694942;15695525;15723520;15751988;15766290;15782489;15805548;15823278;15849246;15868628;1587806;15882068;15900219;15910632;15922294;15925353;15952766;15961173;15962178;15972827;15982502;15994327;16005361;16005451;16005460;16009332;1602151;16023124;16053196;16060677;16091367;16126721;16128586;16130094;16136540;16169070;16197951;16204232;16236546;16259956;16285990;16326978;16342934;16368749;16380821;16403951;16407233;16417409;16418537;16443932;164450;1644835;16452169;16455106;16475830;16495141;16497665;16502470;16520487;16542392;16545386;16574896;16671566;16682745;16698792;16705465;16710093;16763159;16770077;16781717;16801176;16895799;16931800;16939214;16968945;17020879;17071967;17075859;17076584;17113061;17142127;17154273;17165100;17204472;17216278;1723385;17255364;17261136;17272829;17298957;17303779;17378725;17447731;17457002;17474718;17475009;17478755;17510466;17526499;17530370;17530866;17563120;17580958;17600344;17604270;17615385;17654446;17655203;17683612;17693625;17696931;17698072;17727676;17761633;17786215;17825930;17845074;17853951;17855807;17868679;17919884;17938634;17950741;17964293;17967773;17991432;18063807;18073484;1808634;18179799;18179892;18193043;18193044;18193046;18202432;18206649;18218626;18252847;18257091;18280807;18316036;18322452;18378026;18385134;18387362;18388068;18398670;18406360;18506369;18515783;18562802;18565099;18566298;18583707;18594986;18597093;18617649;18621920;18622028;18624398;18660489;18678879;18682504;18688016;18695102;18719109;18719128;18774540;18776170;18801202;18805838;18823627;18824596;18831538;18848320;18927546;1898657;18988890;18988892;19013290;190223;19022789;19023195;19035465;19048603;19056867;19057464;19060906;19060911;19066833;19074352;19105467;19116237;19122170;19124125;19155782;19164805;19170766;19171400;19191080;19207029;19208510;19217440;19218819;19237735;19239199;19242900;19258317;19285487;19304335;19318685;19324878;19324996;19327233;19336370;19336475;19339807;19372457;19408098;19433579;19473658;19481824;19528336;19551315;19558216;19578796;19592705;19618959;19635584;19636829;19651918;19667106;19701693;19729689;19732897;19740687;19762782;19765778;19766218;19786567;19802338;19805625;19878569;19911804;19913121;19917453;19932694;19948731;19948975;19956635;19965585;20008415;20031551;20059975;20064972;20080084;20083572;20110571;20133843;20139978;20143106;20164363;20167577;20182709;20195290;20197510;20211930;20213498;20215705;20331378;20349521;20360068;20368199;20376577;20378541;20382384;20385548;20394740;20399916;20413122;20421239;20430392;204308;20442857;20452482;20459474;20480398;20524691;20534134;20538481;20539018;20571754;20578904;20599735;20602615;20622162;20628086;20634891;20642861;20656001;20660328;20673868;20674306;20683626;20686565;20693280;20714348;20727869;20800056;20801516;20805508;20826588;20835684;20842444;20855565;20864672;20869895;20884842;210174;21033077;21040803;21047795;21069432;2107878;2108924;21103663;2111322;21115733;21117950;21122686;21122859;21129746;21138461;21141907;21145806;21156318;21209084;2123470;21292766;21296086;21329368;21330603;21339300;21354994;21355296;21367423;21378990;21394531;21399642;21399863;21416664;21420943;21443680;21452855;21458433;21504968;21549099;21571275;21576418;21631938;21640348;21676393;21677994;21734188;21749932;21755356;21761133;21767760;21800051;21800421;21801720;21804189;21811627;21820994;21832049;21835924;21840419;21846716;21854571;21868729;21870882;21875686;21900206;21909109;21914797;21944998;21988832;22056562;22105741;22119776;22211563;22219194;22229410;22235130;22245143;22271762;22282358;22286219;22287661;22295944;22297598;22320308;22389325;22407494;22418575;22441101;22471842;22483015;22619369;22674204;22675253;22750655;22889670;22916037;22924697;22952757;22986928;23037322;23066790;23067370;23088652;23096223;23119086;23121297;23125458;23152129;23154241;23183508;23209431;23219399;23233540;23233678;23322769;23359805;23364307;23385359;23409054;23410546;23420675;23425306;23438152;23447138;23454085;23457133;23479152;23505323;23543682;23564081;23568022;23580759;23631828;23650622;23668303;23690001;23697869;23701995;23730806;23740387;23758329;23786280;23806608;23829168;23883582;23889245;23902290;23936200;23969698;23973688;23984834;23989729;23994331;24008390;24015188;24028463;24038215;24038317;24081495;24089247;24097068;24120703;24148653;24201377;24209603;24262325;24285582;24304668;24308268;24316228;24357674;24386095;24407029;24464187;24523407;24558038;24661883;24926085;2506176;2506184;2512329;2673706;2687158;2995392;3005308;3047170;3104518;3119665;3120314;3129297;3142880;3931073;4335615;4345202;6198645;6207999;6294659;6304641;6308458;6328445;6401735;6402711;6404278;6405383;6406984;6409108;6412234;6413973;6432779;6439535;6457647;6489332;6816269;7592581;7638166;7895732;7918609;8049247;8240372;8282791;8663389;8664326;8675681;8740847;9003180;9200714;9211901;9305883;9325276;9356442;9469594;9514407;9593801;9651324;9829992;9916936 335 F8W696;P02647 A14829;A15879;ABBA01039746;AF148963;AF485255;AK292231;AMYH02025623;AP006216;AY422952;AY555191;BC005380;BC110286;CH471065;EF444948;J00098;J04066;M11791;M27875;M29068;NG_012021;NM_000039;X00566;X01038;X02162;X07496;XM_005271539;XM_005271540 AAA35545;AAA51746;AAA51747;AAA62829;AAB59514;AAD34604;AAH05380;AAI10287;AAL92035;AAQ91811;AAS68227;ABM83999;ABM87329;ACA05932;ACA05933;ACA05934;ACA05935;ACA05936;BAF84920;CAA01198;CAA01253;CAA25232;CAA25519;CAA26097;CAA30377;EAW67274;EAW67275;EAW67276;EAW67277;NP_000030;P02647;XP_005271596;XP_005271597 Hs.93194 1682900;1694932;1741747;1743823;1744175;1802234;1802782;1804332;2004042;2004044;2004046;2004048;2004050;2004052;2004054;2004056;2004058;2004060;2004062;2004064;2004066;2004068;2004070;2004072;2004074;2004076;2096984;2096986;2155693 ECD02000;ECD02278;ECD03090;G44357;GDB:182584;GDB:374151;GDB:434790;REN72933;REN72934;REN72935;REN72936;REN72937;REN72938;REN72939;REN72940;REN72941;REN72942;REN72943;REN72944;REN72945;REN72946;REN72947;REN72948;REN72949;REN72950;RH11465;RH1581;stSG601816;stSG601817 MGC117399;apo-AI;apoA-I OTTHUMP00000043268;OTTHUMP00000069346;OTTHUMP00000069347;OTTHUMP00000069348 APPROVED protein-coding ENSG00000118137 HGNC:600 02517 105200;107680;604091 REVIEWED 6906997 APOBEC3A_B APOBEC3A and APOBEC3B deletion hybrid This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. The protein encoded by this gene is the same as that encoded by APOBEC3A; however, this gene is a hybrid gene that results from the deletion of approximately 29.5 kb of sequence between the APOBEC3A gene and the adjacent gene APOBEC3B. The breakpoints of the deletion are within the two genes, so the deletion hybrid is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. [provided by RefSeq, Jul 2012] 22 22 q13 alternate reference locus 68458 78546 + 68458 78546 + 16407327;16527742;17447845;17727729;17977970;18403710;19461882;19788695;20062055;20178977;20615867;21123384;21460793;21957290;22272271 100913187 P31941 AC192820;GL383583;NM_001193289;XM_005276959;XM_005276960 NP_001180218;XP_005277016;XP_005277017 Hs.226307 1658634 STS-T64880 probable DNA dC->dU-editing enzyme APOBEC-3A protein-coding HGNC:44196 REVIEWED 735787 APOB apolipoprotein B This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008] 2 2 2 p24-p23 21063779 21106429 - 21224301 21266945 - 21001429 21044073 - 1578415;1578417;1578418;1578419;1578425;1599164;1599165;1580998;1331525;1601202;1601197;1601200;1580863;1578416;1601198;1601203;1626106;2313974;2313976;2313977;2312763;2313981;2313973;2313979;2313980;2313972;1642185;2325763;2325764;2325770;2325761;2317550;1599167;6480464;6484113;7240710;8699517;8554872 11903341;12730697;15118671;1579407;16011471;16581047;16719989;16728468;16752182;16797745;16828905;17045270;17203948;17292734;1732399;17380167;17696941;18076041;18296645;18945923;19171731;19260948;19324028;19412820;19448981;19592617;20082485;2352345;3473077;7627691;9585673;9603795 10330424;10513896;10574922;10679026;11074075;11170229;11171287;11208426;11333259;11341749;11358959;11359065;11359462;11428473;11459425;11471883;11568510;11575217;11714857;11727199;11737238;11748351;11781700;11833852;11840804;11857554;11869298;11882317;11898622;11940084;11940087;11947895;12011770;12031600;12038793;12044583;12070165;12082592;12124991;12177061;12206678;12208478;12235173;12235182;12368141;12373055;12397072;12397634;12417285;12477932;12492446;12505152;12529498;12535758;12544508;12547700;12551903;12561593;12576514;12582154;12640502;12670940;12691171;12692552;12713147;12736910;12752570;12760338;12760590;12774037;12778454;12818419;12850958;12872264;12895336;12901521;12942366;12964943;13130121;14498830;14550622;14567398;14618390;14706682;14718574;14726411;14732481;14746139;14760718;14763605;14967814;14967820;15028112;15047470;15076187;15102883;15111985;15133863;15135245;15135251;15135253;15186963;15207528;15223114;15242863;15254032;15256516;15258202;15308631;15321837;15321838;15321839;15355439;15358600;15453913;15469418;15477777;15489541;15504742;15543563;15561934;15585207;15591776;15614026;15616123;15618547;15630279;15630635;15637307;15653747;15699916;15701167;15790761;15795421;15797858;15823278;15823288;15830122;15856946;15867268;15890894;15904989;15918022;16007035;16015283;16030169;16136540;16152798;16156669;16159606;16201717;16203724;16233946;16316917;16335952;16386541;16389549;16412386;16419488;16455106;16525840;16544732;16545386;16548883;16596945;16614317;16620782;16634094;16704977;16758614;16776623;16792510;16801176;16854991;16895799;16920700;16925469;16963757;16978902;16981218;16989840;17029200;17032131;17038630;17043676;17046772;17071710;17109403;17111197;17129575;17137217;17142622;17158591;17160438;17194460;17214991;17233885;17244792;17264219;17277381;17277465;17288985;17299378;17337758;17347910;17349073;17350490;17367707;17393087;17393220;17444660;17457002;17462654;17463246;17484618;17502298;17530370;17539906;17548929;17566095;17588943;17595251;17601988;17633563;17640344;17647275;17659091;17672218;17690102;17698027;17698072;17784784;17823116;17855807;17884995;17890784;17964958;18027103;18028451;18031309;18067093;18078817;18160469;18187430;18193043;18193044;18193581;18222178;18254714;18258526;18262040;18279815;18322245;18354102;18387362;18388068;18393233;18473452;18492086;18496130;18512131;18513389;18550891;18566298;18590467;18597093;18599996;18632179;18636124;18658047;18660489;18665040;18684539;18696186;18701171;18710658;18720163;18725409;18728123;18774540;18848826;18925970;18927546;18940289;18948618;18976975;19007590;19020660;19022789;19034549;19056372;19056482;19060906;19060910;19060911;19064256;19072566;19083997;19084451;19098283;19105467;19114110;19122170;19124125;19131662;19148283;19150065;19155782;19156195;19164805;19170196;1917954;19191080;19200542;19200547;19257963;19263529;19282863;19305020;19318025;19319977;19336370;19336475;19342510;19344897;19408349;19409916;19449275;19450572;19479237;19494537;19501493;19513531;19551315;19578130;19592048;19625176;19632678;19642912;19646550;19656773;19667110;19680556;19689828;19692168;19713274;19713673;19729411;19729601;19729689;19766218;19772655;19773416;1979313;19797257;19802338;19841959;19843101;19860767;19888660;19906129;19913121;19915960;19923980;19932694;19934556;19936222;19948975;19956635;19965785;20019594;20031551;20032471;20059992;20080084;20099167;20110441;20133978;20145306;20150556;20160193;20167577;20167655;20181985;20197510;20213498;20236128;20339536;20353182;20368199;20370913;20379614;20382384;20383777;20403997;20407020;20413671;20425806;20452482;20459474;20466372;20503456;20506408;20536507;20538126;20538481;20539018;20565774;20570668;20602615;20609357;20628086;20634891;20635694;20657596;20663853;20673868;20679960;20686565;20691427;20691829;20724655;20816677;20837003;20855565;20858904;20864672;20872969;20930716;20932654;20972250;21039385;21059979;21078674;21122858;21122859;21129357;21129746;21138461;21139048;2115173;21310214;21356116;21357823;21393584;21394531;21402897;21404224;21418831;21421992;21460103;21497351;21502677;21640348;21641598;21693764;21722902;21800051;21801720;21868729;21906983;21943158;21946533;21952877;21958700;21960651;21988832;22041135;22074108;22095935;22105741;22128163;22145905;2216805;221835;22190736;22211563;22223728;22238364;22247256;22268108;22301884;22321874;22341868;22353362;22399527;22407494;22408029;22437562;22441101;22443280;22471842;22507620;22546827;22581286;22607125;22674204;22717515;22751103;22760866;22762727;22786447;22826357;22827961;22897442;22905400;22906437;22913027;22916037;22964994;22985435;23043354;23053881;23067240;23068583;23118302;23121297;23171143;23247145;23320904;23359805;23360385;23391187;23410546;23444115;23446247;23457133;23588940;23593297;23631828;23637837;23669246;23683938;23685141;23685223;23697869;23701995;23723369;23726366;23775634;23788249;23827315;23973688;24001780;24069429;24092915;24097068;24100140;24106285;24173238;24254975;24265415;24362231;24404629;24418085;24447298;2445342;2450346;24515109;24797048;2495826;2563166;2567736;2883086;2932736;2994225;3001697;3012797;3022788;3024665;3030729;3087360;3095664;3284790;3346254;3426612;3455779;3461454;3464946;3513177;3522585;3621347;3652907;3659919;3676265;3680528;3759943;3763409;3773997;3841204;3841481;3860811;3860836;3903660;4345202;4363408;6099394;6373369;7126555;7592581;7853698;7883971;8245722;8300609;8889592;9012650;9252351;9259199;9490296;9548923;9565615;9685400;9694898;9765244;9915855 338 A8MUN2;P04114;Q59HB3;Q7Z7Q0 AB208846;ABBA01045079;AC010872;AC115619;AJ399514;AK290844;AMYH02003376;AY324608;BC051278;CH471053;HM487065;J02610;J04838;K03175;KF456638;M10374;M12413;M12480;M12681;M14081;M14162;M15053;M15421;M17367;M17779;M18036;M18471;M19734;M19828;M31030;M36676;NG_011793;NM_000384;X03045;X03324;X03325;X03326;X04506;X04714;X04867;X04868;X04869;X04870 AAA35541;AAA35544;AAA35548;AAA35549;AAA51741;AAA51742;AAA51750;AAA51751;AAA51752;AAA51753;AAA51754;AAA51755;AAA51756;AAA51758;AAA51759;AAA53373;AAA53374;AAB00481;AAB04636;AAB60718;AAH51278;AAP72970;AAX88848;AAX93246;ACX32319;ADN03360;BAD92083;BAF83533;CAA26850;CAA27043;CAA27044;CAA27045;CAA28191;CAA28420;CAA28558;CAA28559;CAA28560;CAA28561;EAX00801;EAX00802;EAX00803;NP_000375;P04114 Hs.120759 1657961;1684632;1694908;1740901;1740971;1740977;1740987;1741237;1741475;1741703;1741819;1741821;1741825;1741827;1742179;1745693;1776910;1795366;1856098;2147554;2147620;2157000;2163752;2164408;2167245;2173718;2177995;2181174;2184063;2184513;5020956;5118067;5119673;5119823 APOB;APOB_711;D2S2580;D2S2589;G44341;GDB:171933;GDB:177076;GDB:177093;GDB:177207;GDB:178354;GDB:179436;GDB:181235;GDB:182191;GDB:182192;GDB:185253;GDB:185254;GDB:185282;GDB:185295;GDB:193044;GDB:631915;GDB:681390;RH45452;RH68521;RH68973;RH69077;RH69778;RH70147;RH70400;RH80663;SGC34589;SHGC-33615;SHGC-33670;SHGC-34591;SHGC-56579 FLDB;LDLCQ4 OTTHUMP00000115994;apo B-100;apoB-100;apoB-48;apolipoprotein B (including Ag(x) antigen);apolipoprotein B-100;apolipoprotein B48;mutant Apo B 100 1643262;1643271 BW207_H;BW214_H APPROVED protein-coding ENSG00000084674 HGNC:603 00133 107730;144010;615558 REVIEWED 1351728 APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 22 22 22 q13.1-q13.2 23155562 23161219 + 39348755 39359189 + 38957522 38963183 + 1580863;6480464 10469298;10591208;10737800;11863358;12477932;12539042;12683974;12859895;1286667;15461802;15489334;16344560;16407327;16527742;17447845;17727729;17977970;18403710;19008196;19038776;19461882;19788695;19911124;20012521;20062055;20178977;20615867;20972438;21123384;21279453;21460793;21906983;21957290;21963094;21995620;22272271;22457529;22798497;22822074;22948384;22977230;23000965;23640892;23695684;23840298;23979356;24163103;24163127;24227842;24728294 200315 B7ZLZ1;P31941 ABBA01055544;AL022318;AMYH02038370;BC126416;BC144146;BI029063;CH471095;CR456393;DB322320;NM_001270406;NM_145699;U03891 AAA03706;AAI26417;AAI44147;ADR82854;CAG30279;CAK54381;CAK54680;EAW60278;NP_001257335;NP_663745;P31941 Hs.226307 1658634;5015881;5021872;5022651;5037552 D11S2921;D8S2279;GDB:335751;STS-T64880;sY3084 A3A;ARP3;PHRBN;bK150C2.1 DNA dC->dU-editing enzyme APOBEC-3A;OTTHUMP00000198910;phorbolin 1;phorbolin-1;probable DNA dC->dU-editing enzyme APOBEC-3A APPROVED protein-coding ENSG00000128383 HGNC:17343 06168 607109 REVIEWED 1318670 APOBEC2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 ENCODES a protein that exhibits cytidine deaminase activity (inferred); RNA binding (inferred); zinc ion binding (inferred); INVOLVED IN DNA demethylation; INTERACTS WITH hydrogen peroxide; 17beta-estradiol (ortholog); benzo[a]pyrene (ortholog) 6 6 6 p21 42573621 42585311 + 41020940 41032630 + 41053201 41064891 + 1580863;6480464 10403781;11698249;12477932;12683974;14574404;15489334;17187054;18974842;19911124;20138841;21469143;8078915;8125298;8999814 10930 B4DUL0;Q9Y235 ABBA01050760;ABBA01050761;AF086496;AF161698;AI096570;AK223461;AK300689;AK308197;AK310006;AK313288;AL031778;AMYH02013601;BC047767;BC069688;BC069764;BI438931;CB051273;CH471081;NM_006789 AAD45360;AAH47767;AAH69688;AAH69764;BAD97181;BAG36096;BAG62372;EAX04009;NP_006780;Q9Y235 Hs.555915 1700362;2109051 APOBEC2_9198;RH103801 ARCD1;ARP1 OTTHUMP00000016367;apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2;probable C->U-editing enzyme APOBEC-2 protein-coding HGNC:605 07268 604797 VALIDATED 1344652 APOBEC3E apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene q13.1-q13.2 11863358 140565 AL022318 pseudo HGNC:17355 6480861 APOBEC3B-AS1 APOBEC3B antisense RNA 1 22 q13.1 38991559 38998220 - 100874530 ABBA01055544;ABBA01147319;AL022318;AMYH02038370;CX754295;HG512304;NR_104187 Hs.626951 APPROVED ncrna ENSG00000249310 HGNC:43836 VALIDATED 1317202 APOBEC3C apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23212300 23216878 + 39410265 39414843 + 39014260 39018838 + 6480464 10469298;10591208;11863358;12477932;12683974;12859895;14702039;15461802;15466872;15489334;15809227;15862967;15956565;16060832;16414984;16527742;16735504;17078485;17353931;17371941;17582006;17625792;17672864;17967058;17977970;18032489;18304004;18391217;18419775;18420796;18495196;18555089;18577210;18702815;18806783;18846074;19088851;19109396;19322201;19369234;19390611;19535450;19581596;19738201;19911124;20012521;20096141;20174454;20926562;20943965;21139048;21279453;21368204;21430060;21746770;21890473;21906983;21988832;22145963;22205746;22379088;22678362;22912627;22915799;22948384;23000965;23001005;23043103;23602568;23715497;23787464;24101588;24227842 27350 F8WB92;Q9NRW3 AB208979;ABBA01055545;ABBA01055546;AF165520;AK094570;AK313272;AL022318;AMYH02038370;BC011739;BC021080;CH471095;CQ834178;CR456394;KC329528;NM_014508 AAF86650;AAH11739;AGI04216;BAD92216;BAG36081;CAG30280;CAH05304;CAK54383;CAK54682;EAW60283;EAW60284;NP_055323;Q9NRW3 Hs.441124 2218234;5123219 APOBEC3C__4342;STS-N58010 A3C;APOBEC1L;ARDC2;ARDC4;ARP5;FLJ37251;MGC19485;PBI;bK150C2.3 APOBEC1-like;DNA dC->dU-editing enzyme APOBEC-3C;OTTHUMP00000199092;apolipoprotein B editing enzyme catalytic polypeptide-like 3C;phorbolin I;probable DNA dC->dU-editing enzyme APOBEC-3C APPROVED protein-coding HGNC:17353 09671 607750 REVIEWED 1604731 APOBEC3H apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 22 22 22 q13.1 23295267 23302100 + 39493229 39500072 + 39097224 39104067 + 6480464 12477932;12683974;15461802;16571802;18299330;18403710;18420796;18779051;18827027;18945781;19344514;19649317;19694548;19726537;19828612;19939923;20096141;20174454;20308164;20519393;20519396;21167246;21270145;21653666;21835787;22013041;22023594;22203821;22205746;22457529;22720156;22859935;22912627;22915799;23043100;23043103;23097438;23202519;23217182;23388464;23430691;23469063;23755966;23787464;23825473;24139399;24189052;24227842;24361275;24942576;25053361 164668 B7TQM3;B7TQM9;Q6NTF7 ABBA01055549;ABBA01055550;AL031846;AMYH02038371;AMYH02038372;BC069023;BQ052182;BQ054330;BU585251;CH471095;CR456481;FJ376611;FJ376612;FJ376613;FJ376614;FJ376615;FJ376616;FJ376617;KC329529;KF457460;NM_001166002;NM_001166003;NM_001166004;NM_181773 AAH69023;ACK77772;ACK77773;ACK77774;ACK77775;ACK77776;ACK77777;ACK77778;AGI04217;CAG30367;EAW60294;EAW60295;EAW60296;NP_001159474;NP_001159475;NP_001159476;NP_861438;Q6NTF7 Hs.440515 1771297 D22S1134 A3H;ARP-10;ARP10;dJ742C19.2 APOBEC-related protein 10;DNA dC->dU-editing enzyme APOBEC-3H;OTTHUMP00000199085;OTTHUMP00000199086;apolipoprotein B editing enzyme catalytic polypeptide-like 3H;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3H APPROVED protein-coding ENSG00000100298 HGNC:24100 16508 610976 REVIEWED 1347030 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 22 22 22 q13.1-q13.2 23180435 23190818 + 39378352 39388784 + 38982399 38992779 + 1580863;6480464 10469298;10591208;11337467;11863358;12477932;12683974;12859895;15269786;15296758;15461802;15466872;15489334;16060832;16407327;16414984;16527742;16648136;16699599;17020885;17067930;17083721;17303427;17447845;17977970;18024895;18304004;18403710;18577210;19008196;19038776;19698078;19911124;20104108;20174454;20684727;21139048;21715505;21878639;21906983;21963094;21995620;22108670;22446380;22457529;22720156;22912627;22915799;23000965;23043103;23150777;23213177;23389445;23542011;23598277;23852168;24010642;24153179;24154874;24227842;24457600;24728294 9582 B0QYD3;Q9UH17 ABBA01055544;AK024854;AL022318;AMYH02038370;AU098564;AY743217;BC031803;BC053859;BX114955;CH471095;CT841510;KF651167;NM_001270411;NM_004900;U61083;U61084 AAD00089;AAD00090;AAH53859;AAW31743;AHF72554;CAJ86440;CAK54382;CAK54462;CAK54681;CAK54761;EAW60279;EAW60280;EAW60281;EAW60282;NP_001257340;NP_004891;Q9UH17 Hs.226307;Hs.658626 1658634 STS-T64880 A3B;APOBEC1L;ARCD3;ARP4;DJ742C19.2;FLJ21201;PHRBNL;bK150C2.2 DNA dC->dU-editing enzyme APOBEC-3B;OTTHUMP00000199088;OTTHUMP00000199089;OTTHUMP00000199090;apolipoprotein B mRNA editing enzyme catalytic polypeptide-like 3B;cytidine deaminase;phorbolin 2;phorbolin 3;phorbolin-1-related protein;phorbolin-2/3;probable DNA dC->dU-editing enzyme APOBEC-3B APPROVED protein-coding ENSG00000179750 HGNC:17352 06169 607110 REVIEWED 1345786 APOBEC3F apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23238709 23254010 + 39436609 39451977 + 39040604 39055972 + 1580863;6480464 10591208;11863358;12167863;12477932;12683974;12808465;12808466;12809610;12859895;12970355;14527406;14528300;14528301;14557052;14557625;14565218;14702039;15031497;15054139;15141007;15152192;15296757;15461802;15489334;15647250;16014920;16344560;16378963;16460778;16501124;16527742;16641889;16648136;16699599;16767679;16940537;17020885;17038330;17067930;17121840;17142455;17145955;17303427;17428847;17459442;17522216;17609216;17977970;18067920;18262674;18304004;18367521;18448538;18541215;18577210;18603011;18604271;18619467;18806783;18846074;18976920;19008196;19036809;19038776;19088851;19109396;19149995;19169351;19344514;19487726;19535447;19535450;19561087;19587057;19649317;19669862;19826902;19837465;19939923;19944180;20012521;20096141;20153011;20174454;20219927;20299747;20335268;20538015;20592068;20592083;20610708;20624919;20686027;20702622;20844042;20943965;20971849;21044950;21139048;21279453;21396348;21573951;21741003;21835787;21897871;21994560;21994586;21994608;22013041;22203821;22205746;22286874;22315404;22379088;22451677;22647704;22695298;22720156;22807680;22855686;22912627;22915799;23001005;23028129;23043100;23043103;23080486;23097438;23202519;23318957;23330719;23430691;23536679;23685212;23787464;23825473;23926332;23971925;24227842;24390320;24457600;24503066;24623435;8570611;8889548 200316 Q8IUX4 ABBA01055546;ABBA01055547;AK294810;AL022318;AMYH02038371;BC038808;BE888653;BE892372;BG280786;BG744406;BG758984;BM681311;BQ056344;BQ182066;BQ941658;BX367450;CH471095;CR456395;CX165430;DA221480;DQ146365;JF262037;KC329530;NM_001006666;NM_145298;U38435;XR_244357 AAH38808;AAZ38720;AEA39617;AGI04218;BAG57929;CAG30281;CAK54384;CAK54683;EAW60288;EAW60289;NP_001006667;NP_660341;Q8IUX4 Hs.659809 2144544;5015879;5016478;5017227;5017266;5020414;5022200;5022578;5037552;5118444 D11S3316;D1S1423;D8S2279;G18167;G38154;GDB:314949;GDB:434012;L17688;L18426;L18506 A3F;ARP8;BK150C2.4.MRNA;KA6;MGC74891 DNA dC->dU-editing enzyme APOBEC-3F;OTTHUMP00000199082;OTTHUMP00000199083;apolipoprotein B editing enzyme catalytic polypeptide-like 3F;apolipoprotein B mRNA editing enzyme cytidine deaminase;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3F;induced upon T-cell activation APPROVED protein-coding HGNC:17356 16415 608993 REVIEWED 1345381 APOBER1 apolipoprotein B mRNA editing enzyme regulator 340 HGNC:606 1349209 APOBEC3D apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23219153 23231291 + 39417118 39435686 + 39021113 39039681 + 1580863;6480464 10591208;10737800;11863358;12477932;12683974;12859895;15269786;15461802;15496550;15516966;16344560;16648136;16920826;18304004;18577210;19008196;19038776;19088851;19344514;19535450;19649317;19738201;20012521;20096141;20174454;20943965;21835787;22203821;22205746;22505724;22720156;22807680;22912627;22915799;23001005;23043100;23043103;23097438;23755966;24227842 140564 B2CML4;Q6ICH2;Q96AK3 ABBA01055546;AL022318;AMYH02038371;BC017022;BE888971;BF832090;BM917407;BX340829;CH471095;CR456396;DA287097;DB121958;EU527884;NM_152426;XM_005261335;XM_005261337;XM_006724139 AAI48620;AAI53186;ACB32248;CAG30282;CAK54385;CAK54684;EAW60285;EAW60286;NP_689639;Q96AK3;XP_005261392;XP_005261394;XP_006724202 Hs.629775;Hs.658626 2144544;2162869;5015619;5037552 D11S3114;D8S2279;G18167;RH65953 A3D;APOBEC3DE;APOBEC3E;ARP6 DNA dC->dU-editing enzyme APOBEC-3D;OTTHUMP00000199087;apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative);apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene;probable DNA dC->dU-editing enzyme APOBEC-3D APPROVED protein-coding ENSG00000243811 HGNC:17354 16501 609900 REVIEWED 1349849 APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. The protein encoded by this gene has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq, Jul 2008] 22 22 22 q13.1-q13.2 23275044 23285782 + 39473010 39483748 + 39077005 39087743 + 1580863;6480464;8554872 10591208;11863358;12167863;12477932;12683974;12719574;12750511;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14557052;14557625;14564014;14565218;14614829;14672928;14702039;14747572;14966139;14978281;14999100;15031497;15054139;15080177;15098018;15116720;15152192;15156567;15159405;15168739;15177194;15210704;15215254;15245742;15269786;15286366;15297452;15353294;15358144;15373943;15383144;15452227;15461802;15464836;15479826;15479846;15489334;15537645;15574592;15574593;15578976;15581898;15609224;15611076;15613310;15647250;15674295;15721369;15781449;15823539;15943885;16000409;16169070;16250885;16303161;16344560;16354571;16378963;16414984;16418394;16426578;16460778;16501124;16527742;16530799;16571802;16622407;16631224;16641260;16641889;16678488;16699599;16710452;16731938;16822376;16874860;16887808;16940537;16971427;16988524;17020885;17023652;17030807;17036163;17049578;17052331;17064466;17065315;17067930;17079095;17079235;17083721;17121840;17126871;17135358;17142455;17145955;17161027;17166910;17212712;17237417;17251560;17259974;17267497;17272283;17291161;17303427;17314171;17331040;17338854;17344295;17374143;17428847;17440614;17459442;17517765;17522211;17522216;17586316;17609216;17631688;17670826;17727729;17824250;17825339;17848567;17849022;17855362;17869248;17869271;17881443;17886715;17892323;17898068;17916373;17928335;17942420;17959647;18023836;18029348;18036235;18077705;18165230;18184715;18262674;18272764;18288108;18298807;18304004;18308358;18326044;18338854;18362149;18366335;18367521;18391217;18414671;18414697;18420796;18448538;18456846;18480459;18495196;18499212;18501607;18541215;18572219;18577210;18597676;18603011;18604271;18619467;18639915;18647522;18652534;18667511;18675436;18680593;18684817;18789977;18806783;18809921;18819469;18827027;18836454;18842592;18843993;18846074;18849968;18851679;18971252;18976462;18976920;18987139;19004939;19004943;19008196;19020832;19027180;19036809;19038776;19050398;19057663;19088851;19109396;19128510;19136562;19149577;19149995;19153609;19169351;19197360;19211937;19216784;19254362;19266078;19297501;19300495;19304304;19324886;19343218;19344514;19345973;19357165;19371434;19389408;19401538;19487726;19494012;19497112;19535442;19535447;19535450;19560422;19561087;19585516;19587057;19649317;19669862;19694548;19717177;19776130;19826902;19837465;19841153;19886996;19887642;19910370;19939923;19944180;19996938;20012521;20012529;20015971;20018238;20023216;20038599;20096141;20104108;20128960;20147392;20152150;20153011;20174454;20212048;20219919;20219927;20299747;20335268;20338830;20363737;20463065;20463074;20463080;20510315;20523896;20538015;20571604;2059206;20592083;20610708;20624919;20636339;20638642;20642434;20668078;20668529;20833716;20844042;20874421;20939174;21071676;21078663;21123176;21147461;21147467;21149631;21152581;21182427;21217078;21228271;21239176;21279453;21300806;21345952;21370050;21393191;21396348;21480314;21489586;21571098;21573951;21659520;21698207;21734563;21737457;21741003;21752914;21763507;21784078;21832049;21856286;21874023;21890473;21897871;21934670;21935481;21972557;21985787;21994586;21994608;22013041;22017399;22152111;22190036;22190037;22203821;22205746;22218868;22272271;22274659;22301159;22315404;22339232;22346743;22347227;22362763;22369580;22379088;22509177;22553496;22555953;22579353;22645179;22647704;22695298;22725134;22728817;22787460;22791714;22807680;22809226;22828015;22855686;22894923;22912627;22970171;22999946;23043100;23080486;23097438;23128233;23138837;23152537;23175372;23189135;23202519;23255806;23271983;23300442;23316055;23318957;23411593;23430691;23432984;23536679;23545135;23555255;23576497;23596292;23598277;23621690;23640893;23696735;23707381;23717565;23724012;23760237;23787464;23831493;23890083;23926332;23986590;23988114;24010642;24055458;24089548;24098115;24098356;24146808;24185281;24198285;24227842;24345943;24422669;24522927;24623435;9811770;9846577 60489 Q05JX5;Q9HC16 AB266487;ABBA01055548;AF182420;AK022802;AK092614;AK093635;AK310279;AK315650;AL022318;AL078641;AMYH02038371;BC009683;BC024268;BC061914;CH471095;CR456472;DA457434;DQ147772;JF262036;JX915801;KC329531;NM_021822;XM_006724290 AAG14956;AAH24268;AAH61914;AAZ38722;AEA39616;AGI04219;AGS14892;BAF34652;BAG38016;CAG30358;CAK54453;CAK54752;EAW60292;NP_068594;Q9HC16;XP_006724353 Hs.660143 1729197;5020988;5022578;5037552;5122683 D1S1423;D1S2481;D22S958;D8S2279;UniSTS:146584 A3G;ARCD;ARP-9;ARP9;CEM-15;CEM15;FLJ12740;MDS019;bK150C2.7;dJ494G10.1 APOBEC-related cytidine deaminase;APOBEC-related protein 9;DNA dC->dU editing enzyme;DNA dC->dU-editing enzyme APOBEC-3G;OTTHUMP00000199084;apolipoprotein B editing enzyme catalytic polypeptide-like 3G;apolipoprotein B mRNA editing enzyme cytidine deaminase;apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3G;deoxycytidine deaminase;phorbolin-like protein MDS019 APPROVED protein-coding ENSG00000239713 HGNC:17357 06172 607113 REVIEWED 1606067 APOBEC4 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [provided by RefSeq, Jul 2008] 1 1 1 q25.3 156726442 156733480 - 183615410 183622448 - 183646275 183653313 - 6480464 12477932;14702039;15489334;16082223;16710414;19911124;23273568 403314 Q8WW27 ABBA01027746;AI961390;AK098557;AL137800;AMYH02002284;BC021711;CH471067;NM_203454 AAH21711;ADZ15918;BAC05332;EAW91169;NP_982279;Q8WW27 Hs.97335 C1orf169;MGC26594 OTTHUMP00000033512;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 4;putative C->U-editing enzyme APOBEC-4 APPROVED protein-coding ENSG00000173627 HGNC:32152 17522 609908 REVIEWED 1342905 APOC1P1 apolipoprotein C-I pseudogene 1 19 19 19 q13.2 42234383 42238966 + 45430060 45434643 + 44926803 44931386 + 6480464 11752456;16344560;16712791;20209111;22359512;2835369 342 ABBA01040895;ABBA01040896;AC011481;AMYH02036184;AV645786;CB162526;DA636997;DA638554;EF553526;M20903;NR_028412;NR_028413;NR_028414 Hs.110675;Hs.729930 1660896;1792822 PMC164795P2;STS-M20903 DKFZp781C1677 pseudo ENSG00000214855 HGNC:608 VALIDATED 735472 APOC1 apolipoprotein C-I The protein encoded by this gene is a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 42222238 42226929 + 45417577 45422606 + 44914320 44919349 + 1578472;1578471;1580863;1578426;2313951;2313950;2313953;2313948;2325793;6480464 10073946;11714102;11723061;11825674;12753304;15876873;17310220;3757210 10391210;10520737;10978346;11054415;11076863;11162594;11256614;11702052;11991719;12032151;12044170;12113906;12220441;12429068;12477932;12678662;12705839;12736801;12805445;12860251;12962909;14523051;14705977;14746139;15077570;15174051;15339254;15364690;15489334;15489336;15576844;15767578;15769335;15777558;15793777;15840864;15900219;16159884;16381901;16459141;16478678;16544732;16608402;16631424;166984;16763159;16935938;16981907;17053273;17254710;17339654;17341095;17463246;17474819;17667986;17761674;17936795;17975299;17998437;18037960;18049452;18160739;18193043;18193044;182536;18262040;18667498;18802019;18835943;18976728;18984910;18992221;19014618;19060906;19062221;1917954;19197348;19252179;19336475;19336575;19368908;19417222;19494537;19567438;19761869;19785722;19808960;19812053;19913121;19936222;20145290;20209111;20308432;20331378;20339536;20430392;20442857;20498921;20571754;20580041;20628086;20686565;20691829;20714348;20838585;20864672;20880607;20972250;21103663;21187063;21196492;21267442;21300955;21533863;21740922;21900206;21909108;21943158;22003152;22005931;22022282;22054870;22264166;22286219;22404376;22474067;22710912;22832961;22916037;22995522;2302419;23031429;23118302;23383108;23419831;23455636;23555584;23620136;23670531;23726366;24023261;24097068;24121499;2835369;2897845;2985493;3013172;3017837;4020294;4369340;6328444;6789904;7471419;7779782;8125298;8432525;8804993;9300485 341 K7EJI9;K7EKP1;K7ELM9;K7ELU7;K7EPF9;K7EPR9;K7ERI9;P02654 ABBA01040892;ABBA01040893;ABBA01040894;AC011481;AF050154;AF308154;AI310334;AI885116;AK225971;AK312036;AMYH02036184;AY422954;BC009698;BC055093;BT007142;CH471126;CR456907;FJ525874;M20843;M20902;M27359;NG_012859;NM_001645;X00570;XM_005258855 AAA51762;AAA51763;AAA88018;AAD02506;AAG49499;AAH09698;AAH55093;AAP35806;AAQ91813;ACN81312;ACT64518;ACT64519;BAG34973;CAA25235;CAG33188;CAL37605;EAW57307;EAW57308;NP_001636;P02654;XP_005258912 Hs.110675;Hs.737668 1792822 PMC164795P2 apo-CIB;apoC-IB;apolipoprotein C-I variant I;apolipoprotein C1 1643251 BW139_H APPROVED protein-coding ENSG00000130208 HGNC:607 00131 107710 REVIEWED 7379003 APOC4-APOC2 APOC4-APOC2 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring apolipoprotein C-IV (APOC4) and apolipoprotein C-II (APOC2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011] 19 19 q 45445495 45452822 + 44942238 44949565 + 6480464;8554872 14702039;20967262;8530039 100533990 K7ER74 ABBA01040897;ABBA01040898;AC011481;AK126257;AMYH02036185;NG_008837;NR_037932 BAG54298 Hs.731599 1677400;2166636 RH18398;RH91449 ncrna HGNC:44426 VALIDATED 1352001 APOC2 apolipoprotein C-II This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011] 19 19 19 q13.2 42253565 42257132 + 45449239 45452822 + 44945982 44949565 + 1599175;1358408;1358409;1601191;1601207;1601205;1601212;1601206;1601208;1580863;1578471;1601204;1601214;2313970;2313973;2313966;2313953;2313968;6480464;7240710;8554872;8699517 10073946;10335523;12450397;12733353;1468157;16153625;1782747;2242096;2352345;3757210;3944267;7590197;7923858;8139482;8366982;8490626;9002300 10391210;10727238;11162594;11310852;11579204;11751863;11752456;11930616;12032151;12220441;12477932;12590574;12682050;12782148;12783430;14718574;14746139;15031287;15174051;15489334;1555583;15778093;15878877;16432277;16459141;16682745;16763159;16968945;17018885;17174330;17222387;17336988;17429947;17717288;17855807;18005990;18193044;18206908;182536;18660489;18802019;18852267;19014618;19034041;19060906;1917954;19197348;19336370;19336475;194244;19534808;1971748;19878569;19913121;19948975;20031551;20042600;20331378;20430392;20498921;20571754;20628086;20634891;20686565;20714348;20864672;20972250;21146539;21321243;21476595;21943158;21985034;2209608;22239554;22244853;22286219;22808166;23159935;23631828;2415514;2477392;3014272;3030808;3192518;3263393;3467353;3474626;3525527;3558370;3680515;3944271;4020294;4345202;6328445;6328478;6546757;6593704;6706938;7815420;8112221;8245722;8323539;8530039 344 P02655;Q6P163;V9GYJ8;V9GZ01 AA883870;ABBA01040898;AC011481;AF113884;AMYH02036185;AV694494;AY422955;BC005348;BC065270;BT006708;BU596546;CH471126;FJ525875;J02698;M10612;M29844;NG_008837;NM_000483;X00568;X05151 AAA51743;AAA98743;AAB59380;AAD28193;AAH05348;AAH65270;AAP35354;AAQ91814;ACE87064;ACE87745;ACN81313;CAA25234;CAA28798;EAW57311;EAW57312;EAW57313;NP_000474;P02655 Hs.75615 1677400;1740885;1740893;1741251;1741607;2127069;2166636;2175931;2217020 APOC2_2725;GDB:171122;GDB:171136;GDB:179875;GDB:181560;RH18398;RH36305;RH46551;RH91449 APO-CII;APOC-II;MGC75082 apolipoprotein C2 1643251 BW139_H APPROVED protein-coding ENSG00000224916 HGNC:609 07457 207750;608083 REVIEWED 1342697 APOEL1 apolipoprotein E-like 1 1505951 349 HGNC:614 1607021 APOBR apolipoprotein B receptor Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008] 16 16 16 p11 27693485 27697774 - 28505970 28510291 + 28494649 28498970 + 6480464;8554872 10852956;12477932;15591219;15830122;19946888;21367954;22190030;23519644 55911 Q0VD83 ABBA01043652;AC138894;AF141332;AF141333;AF141334;AK025123;AK075085;AMYH02031790;BC119786;BC119788;CH471279;NM_018690 AAF76255;AAF76256;AAF78765;AAI19787;AAI19789;EAW52278;EAW52279;EAW52280;NP_061160;Q0VD83 Hs.200333 1743451 GDB:335745 APOB100R;APOB48R apoB-48R;apolipoprotein B-100 receptor;apolipoprotein B-48 receptor;apolipoprotein B100 receptor;apolipoprotein B48 receptor APPROVED protein-coding ENSG00000184730 HGNC:24087 05561 605220 REVIEWED 737460 APOD apolipoprotein D This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008] 3 3 3 q29 193705274 193720781 - 195295573 195311076 - 195568702 195584205 - 1580863;2311203;2311202;2311209;2311178;2311179;2311196;2311182;2311177;2311180;6480464;8554872 10372566;10501208;11444882;15369805;17851453;6828336;7895459;7913935;9751198 10391209;11058760;11344130;11744388;12052480;12363390;12477932;12497622;12837283;12873803;14500696;14551159;14596852;14718574;14760718;15192024;15316799;15489334;15862967;15916898;16169070;16335952;16344560;16402085;16437381;16502470;16966838;17353931;17601350;17885669;18330697;18419796;18458334;18671953;18842892;18977241;18979643;19056867;19176353;19330472;19519777;19723339;19878569;19913121;19944460;20430392;20493910;20628086;2083249;20855565;21145461;21182205;21319273;21429623;21526344;21705670;2244881;22479522;23296401;23602568;23690001;23715769;23777559;23895740;24167586;2439269;2891117;3104518;3453108;6774335;7613477;7918467;8549691;8692868;8889548;9278274 347 C9JF17;C9JX71;F8WBT9;P05090 ABBA01001604;AC069213;AK294523;AK312090;AMYH02008473;BC007402;BQ008672;BT019860;BT019861;BU195270;BU727194;CH471052;CR456838;CR541773;DA892855;J02611;M16648;M16649;M16695;M16696;NM_001647;S80440 AAA51764;AAB35919;AAB59517;AAH07402;AAV38663;AAV38664;ABM83594;ABM87123;BAG35026;BAG57734;CAG33119;CAG46572;EAW78023;EAW78024;NP_001638;P05090 Hs.522555 1337811;1741421;1858414;2131129;2135362;2151167;7186881;7187888;7187893 D3S1305;GDB:181196;RH69430;STS-J02611;STS-W81076;WI-18936 apo-D OTTHUMP00000208785;OTTHUMP00000208787;OTTHUMP00000208788 1643508 BW262_H APPROVED protein-coding ENSG00000189058 HGNC:612 00134 107740 REVIEWED 1321637 APOH apolipoprotein H (beta-2-glycoprotein I) Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 60780183 60797591 - 64208147 64225556 - 66212029 66229438 - 1578489;1580863;2313984;2313985;2313986;2313988;2313989;2313990;2313992;2313982;2313983;2313991;6480464 11302005;11795690;14595478;15322656;15507263;16126948;17626983;18695102;6613192;9377806;9472678 10508150;10562535;10809787;11434778;11686326;11816715;11953211;12031135;12038453;12124280;12139935;12235181;12362233;12371681;12428105;12440522;12441378;12471146;12477932;12495080;12495081;12562869;12571857;12590955;12605674;12648080;12673579;12807892;12887738;12918732;12970918;1339416;1426288;14601646;14644075;14707422;14718574;14719180;14726399;14760718;14768953;15025925;15084671;15094940;15252864;15486070;15488942;15489334;15507264;15522884;15534879;15641049;15653437;15821830;1582254;15916797;15956288;1602135;16038107;16159595;16199891;16335952;16480936;1650181;1655523;16603439;16625500;16686261;16724168;16740002;16855163;16879209;16905548;16938165;16960938;17053060;17057945;17096706;17200780;17255364;17469158;1748314;17603016;17662972;17715943;17726161;1777418;17872974;18029348;18029906;18034767;18073216;18093092;18205270;18328538;18383370;18452581;18495556;18521522;18624398;18676959;18777117;18822289;18996102;19002041;19052923;19069167;19132787;19248095;19275896;19350132;19578796;19676115;19694946;19706343;19706887;19715922;19758193;19805618;19851667;19878946;19913121;19965629;20004024;20026018;20029801;20089041;20140737;20204408;20237496;20440842;20539917;20581778;20601596;20602615;20628086;20629942;20665665;20874780;20979592;21240499;21454452;21478209;21498672;21501325;21535391;21602492;21618459;21899894;21999151;22056596;22246055;222615;22358146;22394675;22399073;22427365;22635228;22635233;22940059;22956423;22964479;23214196;23279374;23467542;2349221;23578283;23692565;23713583;23954892;24097068;24165912;24315780;25015289;3361230;4052628;6403535;6587378;7078428;7417307;8099061;8139027;8460120;8989432;9058203;9063752;9155091;9225969;9269765;9352386;9596664;9727058;9914524 350 J3KS17;J3QLI0;J3QRN2;P02749 ABBA01029032;ABBA01029033;ABBA01029034;AC006120;AK298416;AK313838;AMYH02033815;AY322156;BC020703;BC026283;BG566874;BM005736;CH471099;HM212425;M62839;NG_012045;NM_000042;S80305;X53595;X57847;X58100;Y11493;Y17754 AAA51766;AAB21330;AAH20703;AAH26283;AAP72014;ABM82288;ABM85468;ADJ96598;BAG36570;BAG60642;CAA37664;CAA40977;CAA41113;CAA72279;CAA76845;EAW89012;EAW89013;NP_000033;P02749 Hs.445358 1659327;1668814;1742779;2125541;5111925 G43003;GDB:206667;RH11628;RH47133;RH66220 B2G1;B2GP1;B2GPI;BG;apo-H APC inhibitor;activated protein C-binding protein;anticardiolipin cofactor;beta(2)GPI;beta-2-glycoprotein 1 APPROVED protein-coding ENSG00000091583 HGNC:616 00728 138700 REVIEWED 736043 APOC4 apolipoprotein C-IV This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene. [provided by RefSeq, Mar 2011] 19 19 19 q13.2 42249817 42253073 + 45445495 45448753 + 44942238 44945496 + 1580863;6480464 10996355;11752456;12032151;12477932;12700345;15489334;16335952;16344560;16763159;17154273;18193043;18193044;18802019;18809223;19060906;19197348;19336475;19913121;20331378;20430392;20498921;20571754;20602615;20628086;20714348;20855565;20864672;20972250;21103663;21943158;8530039;8827523;8910501 346 K7EMC3;P55056 ABBA01040897;ABBA01040898;AC011481;AMYH02036185;AV690709;AY422953;BC020723;CH471126;DB185657;EF371378;HC250943;HC311132;NG_008837;NM_001646;U32576 AAA91653;AAH20723;AAQ91812;ABQ40075;CBJ05769;CBJ21221;EAW57310;NP_001637;P55056 Hs.731599 2127069;2166636 RH18398;RH46551 APO-CIV;APOC-IV apolipoprotein C4 1643251 BW139_H APPROVED protein-coding ENSG00000267467 HGNC:611 02848 600745 REVIEWED 737569 APOC3 apolipoprotein C-III Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 113858439 113861589 + 116700624 116703787 + 116829908 116833071 + 1578443;1331525;1601191;1601223;1601226;1601224;1599190;1580863;1578471;1578441;1578447;1578444;1601225;1578442;1626412;2313970;2313973;2306767;2306754;2306768;2306771;2306765;2306755;2306766;2313968;2313972;5685674;6480464;5685676;7207220;7240710;7207208;7207209;7207210;7207211;7207212;7207205;7207207;8699517;8554872 10073946;10428310;10822722;11959336;14709372;15059615;15118671;15642486;15715433;15734841;1579407;15863838;16298371;16321685;16505251;16813599;17416293;17654446;17957542;18805913;20797315;21297177;21613792;21670290;21829457;22160518;2352345;2879788;7705829;8139482;8366982;8429259;9002300;9062353;9812922 10870325;11060345;11116069;11126401;11152845;11162594;11171287;11181747;11193221;11270684;11282888;11284423;11341749;11359462;11427182;11443500;11472750;11500189;11512679;11533368;11572515;11575217;11605014;11714857;11737222;11740190;11837227;11839757;11840804;11893778;11903304;12048121;12048138;12052247;12082170;12082592;12116231;12118856;12176399;12189450;12235176;12401896;12417525;12477932;12514935;12556235;12588953;12600077;12676816;12691171;12692252;12697301;12732844;12754559;12782148;12962772;12964943;14517726;14563827;14569462;14612212;14650351;14718574;15019539;15039125;15076187;15108119;15117734;15124908;15151505;15161788;15174051;15175273;15292332;15304365;15364160;15375785;15488874;15489334;15542401;15549499;15576429;15576844;15585206;15598690;15649902;15657615;15764642;15778093;15809899;15823278;15862889;15864534;15868628;15910632;15924804;15949705;15962178;15983323;16015281;16030523;16136540;16192625;16205020;16276364;16326171;16343038;16410456;16417409;16430904;16443932;16495512;16602826;16682041;16702309;16705465;16710093;16763159;16769999;16781717;16861622;16864937;16917759;16935699;16968945;16973241;17016614;17020471;17032446;17038637;17142127;17154273;17197160;17261136;17283453;17314277;17318300;17336988;17342071;17367769;17378725;17438339;17457002;17615573;17672999;17700364;17726453;17825930;17853951;17855807;17885207;17919884;17964293;17996965;18020971;18034366;18096054;18179892;18187430;18188530;18193043;18193044;18206649;18240956;182536;18274205;18289550;18399797;18408013;18509206;18513389;18541587;18556566;18560672;18566295;18635818;18660489;18678879;18753860;18767813;18789138;18801202;18823627;18835943;19000312;19034316;19056482;19057464;19060906;19060911;19074352;19131662;19166692;1917954;19207029;19263529;19322776;19336370;19336475;19403283;19424489;19479237;19501493;19502413;19534808;19578796;19592705;19622837;19656773;19689828;19701693;19732897;19785722;19850743;19878569;19910636;19913121;19932084;19948975;20002542;20031551;20071361;20097930;20139978;2022742;20303494;20331378;20335584;20368524;20452482;20517165;20536507;20602615;20628086;20673868;20674306;20686565;20714348;20716347;20727869;20855565;20864672;21033077;21080234;21103663;21183731;21185820;21267442;21274868;21321243;21373834;21378990;21421846;21499891;21603779;21646779;21663607;21676879;21767760;21777557;21829161;21854571;21909109;21939545;21986282;21988832;22004016;22023023;22054125;22101237;22141340;22197810;22211242;22286219;22301884;22675253;22848358;22916037;22924697;23173569;23377670;23505323;23512881;23527852;23631828;23804528;23808989;24121499;24211975;24242684;24343240;24386095;24941081;24941082;2989400;3095836;3123586;3931073;3931677;3935800;3949020;3973011;4020294;4066713;4345202;4846755;6308458;6328445;6404278;6439535;6548954;8099442;8245722;9254056 345 A3KPE2;B0YIW2;C9J2Q0;P02656 ABBA01039746;AMYH02025623;AP006216;AY422951;AY555191;BC027977;BC121081;BC134419;CH471065;CQ924609;EF444950;J00098;JC185289;M28613;M28614;M33043;NG_008949;NM_000040;V01513;X00567;X01388;X01392;X03120 AAA51760;AAA51761;AAB59372;AAB59515;AAH27977;AAI21082;AAI34420;AAQ91810;AAS68230;ABM82970;ABM86164;ACA05940;ACA05941;ACA05942;CAA24757;CAA25233;CAA25644;CAA25648;CAA26895;CAI23899;CDM21968;EAW67272;EAW67273;NP_000031;P02656 Hs.73849 1669174;1669176;1695008;1740967;1741177;1741341;1745789;1806236;1808162;1824550;1825184;1840054;1842180;1845252;1849414;2004090;2004092;2004094;2004096;2004098;2004100;2004102;2004104;2004106;2004108;2004110;2004112;2004114;2004116;2004118;2004120;2004122;2004124;2004126;2004128;2096972;2096974;2096976;2107843;2147419 APOC3;APOC3_7748;D11S4370;D11S4435;ECD04073;ECD05062;ECD13373;ECD13693;ECD21211;ECD22293;ECD23843;G44717;GDB:176981;GDB:178433;GDB:180740;GDB:636456;REN72957;REN72958;REN72959;REN72960;REN72961;REN72962;REN72963;REN72964;REN72965;REN72966;REN72967;REN72968;REN72969;REN72970;REN72971;REN72972;REN72973;REN72974;REN72975;REN72976;RH66448;stSG601810;stSG601811;stSG601812 APOCIII;HALP2;MGC150353 OTTHUMP00000043270;OTTHUMP00000069353;apo-CIII;apoC-III;apolipoprotein C3 APPROVED protein-coding ENSG00000110245 HGNC:610 00132 107720;614028 REVIEWED 1320008 APOL2 apolipoprotein L, 2 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12 20424825 20438568 - 36622255 36636000 - 36226209 36239954 - 1580863;6480464;7240710 10591208;11290834;11374903;11944986;12477932;14702039;15107424;15489334;15949655;18632255;19946888;20602615;20665705;21890473;21906983;21987572;22505724;23000965;7566098 23780 B0QYK8;E9PM95;J3KQL8;Q9BQE5 AB208990;ABBA01055436;AF305225;AF305429;AF324223;AF324224;AF324230;AK056938;AK303978;AL031426;AMYH02038314;BC004395;CH471095;KF457434;NG_023229;NM_030882;NM_145637;XM_006724217;XM_006724218;Z82215;Z95114 AAH04395;AAK11592;AAK11593;AAK11598;AAK20211;AAL09359;ABM84357;ABM87743;BAB71315;BAD92227;BAG64897;EAW60087;EAW60088;EAW60089;NP_112092;NP_663612;Q9BQE5;XP_006724280;XP_006724281 Hs.474740 1338963;1677500;1733244;1795368;1795370;1858345;2130419;2159350 AL021679;APOL2_299.2;APOL3_301;D22S1173;D22S541;D22S592;D22S924;RH80142 APOL-II;APOL3 OTTHUMP00000198078;OTTHUMP00000198079;OTTHUMP00000198080;OTTHUMP00000235928;apolipoprotein L-II;apolipoprotein L2 APPROVED protein-coding ENSG00000128335 HGNC:619 06263 181500;607252 REVIEWED 1344329 APOF apolipoprotein F The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 56407715 56409943 - 56754355 56756583 - 56360571 56362799 - 1580863;6480464;8554872 12477932;12907677;14718574;15172102;15489334;17207965;17901467;18369235;19878569;20331378;204339;20602615;20691829;20855565;21937674;24144296;24211198;6816269;8093033;9880564 319 Q13790 ABBA01008424;AC025574;AK314892;AMYH02026568;BC026257;CH471054;CR936663;L27050;NM_001638 AAA65642;AAH26257;ADQ32134;BAG37406;EAW96938;NP_001629;Q13790 Hs.534302 1660175 STS-L27050 Apo-F;DKFZp781G18150;LTIP;MGC22520 OTTHUMP00000244253;lipid transfer inhibitor protein APPROVED protein-coding ENSG00000175336 HGNC:615 00137 107760 REVIEWED 1348736 APOL1 apolipoprotein L, 1 This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 22 22 22 q13.1 20451685 20466145 + 36649117 36663577 + 36253071 36267531 + 1580863;6480464;6907045;7240710;8554872;8699517 10591208;10946010;11290834;11374903;11944986;12477932;12621437;12837283;14718574;15489334;15500911;15604524;15949655;16020735;16335952;16344560;17154273;17192540;17360487;17845074;18505729;18632255;18850207;18927493;19239905;19324878;19913121;20483474;20602615;20628086;20635188;20647424;20668430;20805508;20855565;21080072;21486385;21537348;21698141;21910715;21931123;21968148;21997392;21997394;21997396;21997397;21997398;22119407;22135313;22239288;22357707;22487534;22495294;22569246;22691369;22695330;22832513;22878977;22956460;23082501;23107266;23300552;23438974;23520206;23677244;23715117;23766536;23768513;23860441;24011553;24119848;24173214;24206458;24231663;24379297;24504811;24518129;24731740;24808134;24899058;9325276 8542 B1AH94;B1AH95;B1AH96;F8WB77;F8WCH3;O14791;Q2KHQ6 ABBA01055436;ABBA01055437;AF019225;AF305224;AF305428;AF323540;AF323548;AK296099;AK298053;AK300454;AK303919;AK309143;AK313752;AMYH02038315;BC017331;BC112943;BC113867;BC114475;BC127186;BC141823;BC142720;BC143038;BC143039;BG419709;CH471095;DA375861;DC340792;DC367266;NG_023228;NM_001136540;NM_001136541;NM_003661;NM_145343;XM_005261795;XM_005261796;Z82215 AAB81218;AAG53690;AAI12944;AAI13868;AAI14476;AAI27187;AAI41824;AAI42721;AAI43039;AAI43040;AAK11591;AAK20210;AAL09358;BAG36492;BAG58852;BAG60347;BAG62174;BAG64847;EAW60090;EAW60091;EAW60092;EAW60093;EAW60094;NP_001130012;NP_001130013;NP_003652;NP_663318;O14791;XP_005261852;XP_005261853 Hs.114309 1677500;1729195;1733232;1733244;1795368;1846818;2130419;5014051;5016700;5021872;5022200;5022578;5037552;5109281 APOL2_299.2;D1S1423;D1S1425;D22S541;D22S549;D22S550;D22S592;D8S2278;D8S2279;L18426;RH79802;RH80142;UniSTS:146582;sY3084 APO-L;APOL;APOL-I;FSGS4 OTTHUMP00000028705;OTTHUMP00000197952;OTTHUMP00000197984;OTTHUMP00000197985;OTTHUMP00000197986;OTTHUMP00000197987;OTTHUMP00000198062;apolipoprotein L-I;apolipoprotein L1 2314778 GLUCO97_H APPROVED protein-coding ENSG00000100342 HGNC:618 04774 603743;612551 REVIEWED 1343358 APOL4 apolipoprotein L, 4 The protein encoded by this gene is a member of the apolipoprotein L family and may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Two transcript variants encoding two different isoforms have been found for this gene. Only one of the isoforms appears to be a secreted protein. [provided by RefSeq, Jul 2008] 22 22 22 q11.2-q13.2 20387749 20403452 - 36585176 36600879 - 36189128 36204833 - 1580863;6480464;7240710 11290834;11374903;11944986;12477932;15461802;15949655;16344560;18632255;8125298 80832 B1AHJ0;B1AHJ2;E9PS31;F5H1P9;J3KNR9;Q9BPW4;Q9BRG6 ABBA01055436;AF305226;AK225696;AK290466;AK290777;AK311506;AK312716;AK313637;AMYH02038314;AW627682;AY014913;AY014914;AY014915;BC004150;BC006276;BC010131;BC017313;CH471095;CR456380;DA865632;KF459718;NG_023437;NM_030643;NM_145660;Z95114 AAG50350;AAG50351;AAG50352;AAG50353;AAH06276;AAI56832;AAK20212;ACE86467;ACE87148;BAF83155;BAF83466;BAG35591;CAG30266;CAK54369;CAK54668;EAW60084;EAW60085;EAW60086;NP_085146;NP_663693;Q9BPW4 Hs.115099 1689763;1795372;5108114;5124355 APOL4_713;DXS429;RH80419;RH91879 APOL-IV;APOLIV OTTHUMP00000198064;OTTHUMP00000198065;OTTHUMP00000198067;OTTHUMP00000198068;OTTHUMP00000198069;OTTHUMP00000232518;apolipoprotein L-IV;apolipoprotein L4 2314778 GLUCO97_H APPROVED protein-coding ENSG00000100336 HGNC:14867 16237 181500;607254 REVIEWED 1604585 APOLD1 apolipoprotein L domain containing 1 APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008] 12 12 12 p13.1 18027373 18093110 + 12878851 12944400 + 12725917 12791466 + 6480464 11076863;11230166;12477932;14702039;15102925;15489334;15489336;16344560;16381901;19738201;19913121;20628086;24250222;8125298 81575 A0AVN6;F5GX34;Q96LR9 ABBA01067848;ABBA01067849;ABBA01067850;ABBA01067851;AC007215;AC008115;AK024963;AK225176;AK314392;AL136783;AMYH02026064;AMYH02026065;AX665378;BC042478;BC126433;BC126435;CH471094;DA405367;DC413327;NM_001130415;NM_030817 AAH42478;AAI26434;AAI26436;BAG37017;CAB66717;CAD82870;CAL38261;EAW96278;EAW96279;NP_001123887;NP_110444;Q96LR9 Hs.23388;Hs.719938 1697084;1733594;2117357;2124779;5037552 BCD2161;D12S927;D8S2279;RH102024;SHGC-32548 DKFZp434F0318;FLJ25138;FLJ95166 OTTHUMP00000204109;OTTHUMP00000204110;VERGE;apolipoprotein L domain-containing protein 1;vascular early response gene protein APPROVED protein-coding ENSG00000178878 HGNC:25268 13153 612456 VALIDATED 1353798 APOL6 apolipoprotein L, 6 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008] 22 22 22 q12.3 19847673 19867704 + 36044424 36064456 + 35648377 35668409 + 1580863;6480464 10591208;11374903;12477932;12975309;14702039;15461802;15489334;15671246;18571626;19299565;21646352;22505724;22632162;23000965;23911300;8889548;9828130 80830 B3KTP4;Q9BWW8 ABBA01055424;AJ227900;AK074645;AK095881;AK097266;AL049747;AL834420;AMYH02038307;AY014879;AY358210;BC038950;BC047864;BM023524;BM982940;BU585026;CH471095;CR456381;FJ177991;NM_030641;Z79996 AAH38950;AAH47864;AAK07724;AAQ88577;ACN51253;BAC11109;BAG53156;CAG30267;CAH56356;CAK54370;CAK54669;EAW60069;NP_085144;Q9BWW8 Hs.257352 1674363;1735048;1795374;5022450 APOL6_715;D10S275;D22S977E;WI-19821 APOL-VI;DKFZp667M075;FLJ38562;FLJ90164;MGC57495 APOLVI;OTTHUMP00000197934;apolipoprotein L-VI;apolipoprotein L6 APPROVED protein-coding ENSG00000221963 HGNC:14870 06266 607256 REVIEWED 1315120 APOL3 apolipoprotein L, 3 This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 6. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 22 22 22 q13.1 20338943 20364799 - 36536371 36562225 - 36140323 36166177 - 1580863;6480464 10233894;10591208;11290834;11374903;11930015;11944986;12477932;12761501;15461802;16344560;16806233;19946888;20237496;20379614;20602615;20631155;23648065 80833 F2Z2M3;H0YCT0;H0YD32;H0YDH5;H0YDW3;H0YEJ6;H0YEQ0;H7BYQ5;O95236 ABBA01055436;AF070675;AF305227;AF324238;AK025349;AMYH02038313;AY014902;AY014903;AY014904;AY014905;AY014906;AY014907;BC038352;BC042918;BC050596;BF797347;CH471095;CR456379;DA878288;NM_145640;NM_145641;NM_145642;NR_027833;NR_027834;NR_027835;XM_006724322;XM_006724323;XM_006724324;XM_006724325;Z95114 AAC83233;AAG50344;AAG50345;AAG50346;AAG50347;AAG50348;AAG50349;AAH42918;AAH50596;AAK20213;AAK26527;AAK26528;AAK26529;CAG30265;CAK54368;CAK54667;EAW60080;EAW60081;EAW60082;EAW60083;NP_663615;NP_663616;NP_663617;O95236;XP_006724385;XP_006724386;XP_006724387;XP_006724388 Hs.474737 1653343;1692226;1795370 A008R30;AL033769;APOL3_301 APOLIII;CG121;CG12_1;apoL-III OTTHUMP00000198071;OTTHUMP00000198072;OTTHUMP00000198073;TNF-inducible protein CG12-1;apolipoprotein L-III;apolipoprotein L3 APPROVED protein-coding ENSG00000128284 HGNC:14868 06264 607253 REVIEWED 1347333 APOL5 apolipoprotein L, 5 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008] 22 22 q12.3 36113919 36125530 + 35713631 35729530 + 1580863;6480464 10591208;11374903;17474147;20602615;20691427;24348519 80831 Q9BWW9 ABBA01055424;AC239364;AL049748;AMYH02038309;AY014878;NM_030642;XM_006724321;XM_006725403 AAI56796;AAK07723;NP_085145;Q9BWW9;XP_006724384;XP_006725466 Hs.326561 APOL-V APOLV;OTTHUMP00000197877;apolipoprotein L-V;apolipoprotein L5 APPROVED protein-coding ENSG00000128313 HGNC:14869 06265 607255 REVIEWED 1603962 APOO apolipoprotein O This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.[provided by RefSeq, Sep 2009] X X X p22.11 27970217 28043546 - 23851465 23926057 - 23833348 23907940 - 6480464;8554872 12477932;12975309;15489334;16956892;18029348;19204726;19913121;20628086;20877300;21319273;22693255;24341743;24743151 79135 G3V1B6;H7C1U8;Q9BUR5 AA410995;ABBA01072242;ABBA01072243;ABBA01072244;ABBA01072245;ABBA01072246;ABBA01072247;ABBA01072248;ABBA01072249;ABBA01072250;ABBA01072251;ABBA01072252;ABBA01072253;ABBA01072254;ABBA01072255;ABBA01072256;ABBA01072257;ABBA01072258;AC079376;AC131011;AF061264;AK311865;AMYH02039035;AY359114;BC002333;BC010102;BC016814;BX099786;CH471074;DB466960;EL951748;NG_013219;NM_024122;NR_026545;XM_006724516;XM_006724517 AAG43139;AAH02333;AAH10102;AAH16814;AAQ89472;BAG34806;EAW99001;EAW99002;EAW99003;EAW99004;NP_077027;Q9BUR5;XP_006724579;XP_006724580 Hs.495851 FAM121B;MGC4825;MYO25;My025 OTTHUMP00000023072;OTTHUMP00000023073;brain my025;family with sequence similarity 121B APPROVED protein-coding ENSG00000184831 HGNC:28727 06657 300753 REVIEWED 736378 APOE apolipoprotein E Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 42213361 42216972 + 45409039 45412650 + 44905782 44909393 + 1300048;1578483;1578449;1578479;1331525;1601191;1601227;1601238;1601231;1601235;1601230;1599198;1580863;1578416;1578481;1578485;1601229;1601237;1601240;1578426;1626412;2317552;2317556;2317548;2317550;6480464;6903197;6903199;6903285;6903288;6903840;6903910;6904145;6903287;6903854;6903926;6903200;6903201;6903202;6903906;6902935;6903856;6904141;6903838;6903233;5509868;6903247;734968;6903286;6907045;6904207;6904217;6904214;6904216;6906874;6906875;7240710;7771594;7771597;7495765;7495761;7771587;7495788;7771554;7771556;7771557;7771549;7495760;7495790;7495762;7495763;7495764;7495789;7771591;7495786;7771550;7771553;7495800;7771552;7771592;7771596;7771598;7775015;7771551;7771593;7771595;7495797;7495787;7771555;8554872;8699517 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348 E7ERP7;E9PEV4;H0Y7L5;P02649 AB035149;ABBA01040892;AC011481;AF050154;AF261279;AK314898;AMYH02036183;AY077451;BC003557;BU848796;CH471126;FJ525876;K00396;M10065;M12529;NG_007084;NM_000041;X00199;X92000;XM_005258867;Z70760 AAB59397;AAB59518;AAB59546;AAD02505;AAG27089;AAH03557;AAL82810;ABM83474;ABM86685;ACN81314;BAA96080;BAG37412;CAA25017;CAA63051;CAA94806;EAW57306;NP_000032;P02649;XP_005258924 Hs.654439 1341236;1658651;1740879;1740895;1741019;1741151;1741655;1741669;1742423;1744161;1744223;1791614;1794296;1794298;1794300;1794302;1795160;2131438;2176691 D19S571;GDB:169570;GDB:171177;GDB:177380;GDB:178385;GDB:181631;GDB:181693;GDB:196979;GDB:433407;GDB:438097;PMC117303P1;PMC310963P1;PMC310963P2;PMC310963P3;PMC310963P4;PMC99927P2;RH11470;STS-K00396;STS-N29699 AD2;LDLCQ5;LPG;MGC1571;apo-E OTTHUMP00000159143;OTTHUMP00000197075;OTTHUMP00000197076;OTTHUMP00000197077;apolipoprotein E3 1643251 BW139_H APPROVED protein-coding ENSG00000130203 HGNC:613 00135 104310;107741;269600;603075;611771 REVIEWED 1351827 APOOL apolipoprotein O-like This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011] X X X q21.1 84498355 84587725 + 84258897 84348323 + 85003891 85093317 + 6480464 10737800;12477932;12975309;14702039;15489334;15772651;18029348;22118674;23704930;24457600 139322 Q6UXV4 ABBA01051632;ABBA01051633;ABBA01051634;ABBA01051635;ABBA01051636;ABBA01051637;ABBA01051638;ABBA01051639;ABBA01051640;ABBA01051641;ABBA01051642;AK096909;AK130506;AMYH02039887;AMYH02039888;AMYH02039889;AY358193;BC107095;BC107096;BE328646;BI038188;CH471104;CR749250;NG_021245;NM_198450;XM_005262080;Z83820;Z99571 AAI07097;AAQ88560;CAH18106;EAW98568;NP_940852;Q6UXV4;XP_005262137 Hs.512181;Hs.729014 1702296;1847583;1858566;2138884;2142960;2146703;2184770;5015961 A006S21;AL022453;D15S1477;DXS326;DXS6994E;DXS8341;SHGC-33825;SHGC-63599 CXorf33;FAM121A;MGC129748;UNQ8193 AAIR8193;OTTHUMP00000023621;chromosome x open reading frame 33;family with sequence similarity 121A APPROVED protein-coding ENSG00000155008 HGNC:24009 16775 REVIEWED 1351807 APOM apolipoprotein M The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012] 6 6 6 p21.33 33221892 33224208 + 31620187 31625987 + 31652410 31658210 + 1580863;2314236;2314238;2314241;2314248;2314249;6480464 16516154;17674965;19539616 10531326;11418126;11944906;12477932;12666989;14574404;14633861;14656967;15146197;15147633;15172102;15489334;15542348;15793583;15904876;16169070;16335952;16572495;16682745;17022639;17112825;17154273;17207965;17525477;17557255;17973931;17977826;18006500;18054359;18279674;18338076;18381283;18460466;18490703;18652652;18835879;18978787;19007767;19100249;19200746;19654303;19733574;19767535;19796793;19836008;19913121;19932694;19932739;20080084;20602615;20628086;20660599;20828695;20846402;20872094;21122852;21390319;21454713;21606363;21844665;21875437;21944699;22204862;22516753;22826357;22877565;23086303;23190940;23652568;23660425;23664237;24040766;24318881;24341666;24508264;8812450 55937 O95445;Q5SRP5 AA476324;AA846749;ABBA01038084;AF118393;AF129756;AF161454;AJ245434;AL662801;AL670886;AL805934;AMYH02013452;BA000025;BC020683;BF344944;BG564719;BX511262;CB054016;CH471081;CN428415;CR354443;CR753842;CR759761;CS185541;NM_001256169;NM_019101;NR_045828;XM_006715150;XM_006725493;XM_006725707;XM_006725824;XM_006725916;XM_006726009;XM_006726104 AAD11443;AAD18084;AAF29014;AAH20683;ADQ32214;BAB63389;CAB51604;CAJ42722;EAX03461;EAX03462;EAX03463;EAX03464;NP_001243098;NP_061974;O95445;XP_006715213;XP_006725556;XP_006725770;XP_006725887;XP_006725979;XP_006726072;XP_006726167 Hs.534468 1686830;1717479;2175166 A007I39;RH122245;RH92454 G3a;HSPC336;MGC22400;NG20;apo-M NG20-like protein;OTTHUMP00000029364;OTTHUMP00000029365;OTTHUMP00000029366;alternative name: G3a, NG20 APPROVED protein-coding ENSG00000204444 HGNC:13916 06068 606907 REVIEWED 7246281 APOOP2 apolipoprotein O pseudogene 2 3 3 3 p11.2 88397161 88397739 + 87643956 87644534 + 87594806 87595384 + 100129005 ABBA01004630;AC116546;AMYH02007214;NG_012899 pseudo HGNC:48740 INFERRED 7246228 APOOP1 apolipoprotein O pseudogene 1 5 5 5 q33.3 152376818 152377732 + 156351101 156352014 + 156924090 156925003 + 100286948 ABBA01044278;AC008491;AMYH02012541;NG_029196 pseudo HGNC:48739 INFERRED 7246214 APOOP3 apolipoprotein O pseudogene 3 12 12 12 q14.3 65193936 65194835 + 65528441 65529340 + 65134661 65135560 + 100131528 ABBA01026592;AC026124;AMYH02026671;NG_012898 pseudo HGNC:48741 INFERRED 7246270 APOOP5 apolipoprotein O pseudogene 5 16 16 16 q21 44288742 44289801 - 59788036 59789095 - 59754132 59755191 - 644649 ABBA01025325;AC026457;AI016649;AMYH02032146;BX108667;NR_028471 Hs.250392;Hs.729577 pseudo HGNC:48743 PROVISIONAL 1312327 APOPT1 apoptogenic 1, mitochondrial INVOLVED IN intrinsic apoptotic signaling pathway (inferred); positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (inferred); positive regulation of release of cytochrome c from mitochondria (inferred); ASSOCIATED WITH Cytochrome-c Oxidase Deficiency (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; diazinon 14 14 14 q32.33 84083545 84111477 + 104029299 104057236 + 103562962 103590899 + 6480464 12477932;15342556;15489334;16782708;18977203;20877624;21906983;23824909;8125298 84334 G3V4L6;H0YJ38;H0YJK3;H0YJM4;H7BZ67;H7C2Z1;Q96IL0 ABBA01048419;ABBA01048420;ABBA01048421;ABBA01048422;AK223092;AK223103;AL139300;AMYH02029927;AMYH02029928;BC007412;BP317962;CA443899;CH471061;NM_032374 AAH07412;BAD96812;BAD96823;EAW81829;EAW81830;EAW81831;NP_115750;Q96IL0 Hs.598441 1672526;1673896;1683769;2119433;2120543;2158846;2161128;2180864;5016478;5020274;5020946;5020948;5022463;5022578;5022651 D11S2921;D1S1423;D3S1673;G35465;G35510;G35514;G36164;G36166;GDB:434012;L17971;L18441;RH41848;RH48201;RH69467;RH94158 APOP;APOP1;C14orf153;MGC2562 OTTHUMP00000204662;UPF0671 protein C14orf153;apoptogenic 1;apoptogenic protein 1;apoptogenic protein 1, mitochondrial;chromosome 14 open reading frame 153;hypothetical protein LOC84334 APPROVED protein-coding HGNC:20492 12637 220110;616003 VALIDATED 7246620 APOOP4 apolipoprotein O pseudogene 4 4 4 4 q13.2 66629257 66630021 - 69169920 69170684 - 68304202 68304966 - 9847074 100128725 ABBA01022909;AC074378;AC098799;AC247056;AMYH02009388;NG_012897 pseudo HGNC:48742 INFERRED 6767468 APTR Alu-mediated CDKN1A/p21 transcriptional regulator (non-protein coding) 7 7 7 71987595 72027556 - 77313168 77326662 - 77683851 77697345 - 24748121 100505854 ABBA01058014;ABBA01058015;ABBA01058016;AC004955;AC090421;AF290475;AMYH02016104;HG500346;NR_038361 Hs.72451 1697122;1735676;2115756 D7S2136E;RH102045;SHGC-56104 AC090421.1;RSBN1L-AS1 APPROVED ncrna HGNC:44173 616048 VALIDATED 1607055 APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008] 3 3 3 p21.1-p14.3 57227340 57273073 + 57261765 57307499 + 57227737 57273471 + 6480464;6907045;8554872 10490823;10718198;12011067;12168954;12477932;12621049;15016378;15070827;15196694;15302935;15345747;15489334;16189514;16273093;16622416;16751776;17030088;17287464;17490420;17502098;17581628;17848569;18034774;18307981;18581887;18632660;19056867;19060904;19322201;19433865;19520843;19686092;20095645;20412119;20484574;20600589;20639865;20814572;20875820;20978232;21139048;21285318;21291857;21320486;21562756;21645192;21835890;21890473;21906983;21926268;21963094;21988832;22037462;22053931;22340213;22379109;22505724;22685300;22685329;22863883;23055524;23246927;23291133;23383273;23752268;23762377;23891720;23909487;23977033;23986476;24816145 26060 C9JAB0;C9K0C4;Q9UKG1 AB037849;ABBA01024422;ABBA01024423;ABBA01024424;AC093928;AF169797;AF424738;AK299008;AK310716;AMYH02006863;BC010911;BC028599;CH471055;NM_012096 AAF04012;AAH28599;AAL17835;ADZ15518;BAA92666;BAG61090;EAW65335;EAW65336;NP_036228;Q9UKG1 Hs.476415 APPL;DIP13alpha AKT2 interactor;DCC-interacting protein 13-alpha;OTTHUMP00000165214;adapter protein containing PH domain, PTB domain and leucine zipper motif 1;adaptor protein containing pH domain, PTB domain and leucine zipper motif 1;dip13-alpha;signaling adaptor protein DIP13alpha APPROVED protein-coding ENSG00000157500 HGNC:24035 05053 604299 REVIEWED 1605653 APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011] 12 12 12 q24.1 105231366 105294273 - 105567075 105630008 - 105173297 105236230 - 6480464 11431708;12477932;14702039;15016378;15489334;16189514;16622416;17030088;18034774;19056867;19433865;20814572;21044950;21645192;22340213;22462604;22863883;22989406;23055524;23455924;23891720;23977033 55198 F8VR68;F8VS86;F8VWV2;F8VXB0;F8W124;H0YH86;Q8NEU8 ABBA01053186;AC016257;AC078874;AK001521;AK290562;AK293783;AK296610;AK297100;AK310377;AMYH02027109;AMYH02027110;AY113704;BC028008;BC033731;CH471054;DN993818;KF455707;NG_030419;NM_001251904;NM_001251905;NM_018171;XM_005269001;XM_006719472 AAH33731;AAM55530;ABM83033;ABM86227;BAF83251;BAG50931;BAH11594;BAH12397;BAH12496;EAW97762;EAW97763;EAW97764;NP_001238833;NP_001238834;NP_060641;Q8NEU8;XP_005269058;XP_006719535 Hs.506603 1340494;1644974;1690302;2124799 D12S317;RH44961;SHGC-3540;STS-R77239 DIP13B;FLJ10659 DCC-interacting protein 13-beta;DIP13 beta;OTTHUMP00000242288;OTTHUMP00000242289;OTTHUMP00000242290;adapter protein containing PH domain, PTB domain and leucine zipper motif 2;adaptor protein containing PH domain, PTB domain and leucine zipper motif 2;dip13-beta APPROVED protein-coding ENSG00000136044 HGNC:18242 06945 606231 REVIEWED 1315134 APPBP2 amyloid beta precursor protein (cytoplasmic tail) binding protein 2 The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 17 17 17 q23.2 57621010 57704071 - 58520520 58603580 - 60443149 60526240 - 1580863;6480464 11034067;11331760;11742091;12477932;12915535;14729952;15342556;15489334;16189514;16196087;18187417;19060904;19176879;19570594;21118134;21139048;21145461;21890473;21906983;23000965;9039502;9843960 10513 K7EIZ9;K7EN61;K7ENN3;Q92624 ABBA01035408;AC011921;AC037475;AF017782;AK292227;AK307666;AL157428;AMYH02033723;BC018121;BP222365;CH471179;D86981;NM_001282476;NM_006380;XM_006721639 AAC83973;AAH18121;BAA13217;BAF84916;EAW51406;EAW51407;NP_001269405;NP_006371;Q92624;XP_006721702 Hs.84084 1705024;1774237;1794294;2126791;2155789;2218236;5015867;5022450;5022578;5022588;5109281 APPBP2__4343;D10S275;D1S1423;D1S1425;D5S1597E;GDB:312714;PMC310943P1;RH12422;RH25434;RH45824;SHGC-78028 APP-BP2;HS.84084;KIAA0228;PAT1 amyloid beta precursor protein-binding protein 2;amyloid protein-binding protein 2;protein interacting with APP tail 1 APPROVED protein-coding ENSG00000062725 HGNC:622 05616 605324 REVIEWED 736021 APP amyloid beta (A4) precursor protein This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014] 21 21 21 q21.3 12436275 12726567 - 27252861 27543446 - 25880550 26171128 - 1300048;1599199;6480464;6484113;6907045;7240710;8554872;8699517 16369530 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351 B4DGD0;B4DJT9;E9PG40;H7C0V9;H7C2L2;P05067 A02759;AB066441;ABBA01057213;ABBA01057214;AF282245;AK294534;AK295373;AK295621;AK296229;AK297229;AK297412;AK298861;AK311717;AK312326;AMYH02037653;AMYH02037654;AMYH02037655;AMYH02037656;AMYH02037657;AMYH02037658;AMYH02037659;AP001439;AP001440;AP001441;AP001442;AP001443;AY011354;AY919674;BC004369;BC065523;BC065529;BE907745;BI559391;BM172428;BM876312;CB854706;CH471079;CS275872;CS365133;CS448142;CS448144;CS448146;CS448164;CS448166;CS448168;D87675;DC336035;KC877827;KC877829;KC877830;KC877833;KC877835;KC877836;KC877837;KC877838;KC877840;KC877846;KC877849;KF454891;KF457122;KF457123;KF457130;KF457131;KF457132;KF457133;KF457134;KF457140;KF510514;KF510515;KF510516;KF510517;KF510518;KF510519;KF510520;KF510521;KF510523;KF510525;KF510526;KF511359;KF511362;KF511363;KF511364;M15532;M15533;M16765;M18734;M24546;M28373;M29270;M33112;M34862;M34863;M34864;M34865;M34866;M34867;M34868;M34869;M34870;M34871;M34872;M34873;M34874;M34875;M34876;M34877;M34878;M34879;M35675;M37896;NG_007376;NM_000484;NM_001136016;NM_001136129;NM_001136130;NM_001136131;NM_001204301;NM_001204302;NM_001204303;NM_201413;NM_201414;S41243;S45136;S60317;S60721;S61380;S61383;X06981;X06982;X06989;X13466;Y00264 AAA35540;AAA51564;AAA51722;AAA51726;AAA51727;AAA51768;AAA58727;AAA60163;AAB23646;AAB26263;AAB26264;AAB26265;AAB59501;AAB59502;AAC13654;AAC60601;AAG47389;AAH04369;AAH65529;AAQ14327;AAW82435;ACE87808;ACT64482;BAA22264;BAB71958;BAG35248;BAG57741;BAG58500;BAG58951;BAG59712;BAG59847;BAG60983;BAH12049;CAA00268;CAA30041;CAA30042;CAA30050;CAA31830;CAA68374;CAJ84410;CAL33835;CAL69791;CAL69792;CAL69795;CAL69796;CAL69831;CAL69838;EAX09957;EAX09958;EAX09959;EAX09960;EAX09961;EAX09962;EAX09963;EAX09964;EAX09965;EAX09966;NP_000475;NP_001129488;NP_001129601;NP_001129602;NP_001129603;NP_001191230;NP_001191231;NP_001191232;NP_958816;NP_958817;P05067 Hs.434980 1336950;1337535;1649514;1652599;1661001;1661622;1664158;1668576;1696304;1696470;1706634;1709202;1718237;1722475;1735040;1741331;1741769;1741771;1743209;1768358;1770220;1784470;1784472;1791324;1795376;2113700;2116162;2118152;2122353;2129618;2153841;2155185;2157100;2158874;2163359;2166282;2175501;2181117;5117600;5120041;7183785 APP;APP_48;D21S1253;D21S1443;D21S1732E;D21S1857;D21S1968;D2S2243;G09932;G34719;G34787;G60161;GDB:180723;GDB:185158;GDB:185159;GDB:192308;GDB:303952;GDB:585471;PMC102624P1;RH122888;RH67934;RH77727;SHGC-170150;SHGC-170152;SHGC-51936;SHGC-51938;SHGC-51939;SHGC-51941;SHGC-51942;SHGC-51944;SHGC-51945;SHGC-52109;SHGC-52131;SHGC-58300;SHGC-77728;SHGC-79795;SHGC-82798;SHGC-85780;WI-18826;WIAF-1682 AAA;ABPP;AD1;APPI;CTFgamma;CVAP;PN-II;PN2;preA4 ABETA;OTTHUMP00000096095;OTTHUMP00000096096;OTTHUMP00000096097;OTTHUMP00000096098;OTTHUMP00000225525;alzheimer disease amyloid protein;amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease);amyloid beta A4 protein;beta-amyloid peptide;beta-amyloid peptide(1-40);beta-amyloid peptide(1-42);cerebral vascular amyloid peptide;peptidase nexin-II;protease nexin-II APPROVED protein-coding ENSG00000142192 HGNC:620 00100 104300;104760;605714 REVIEWED 1606553 APTX aprataxin This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010] 9 9 9 p13.3 32903909 32932925 - 32972604 33001639 - 32972606 33001641 - 6480464;7240710;8662352;8554872;8699517 20192759 11170899;11586299;11586300;12119013;12196655;12477932;12629250;14506070;14534929;14702039;14755728;15044383;15164053;15164193;15276230;15365154;15367657;15380105;15489334;15555565;15596775;15699391;15719174;15790557;15852392;16344560;16439205;16547001;16713569;16777843;16964241;17049295;17240329;17276982;17485165;17519253;17572444;18202221;18836178;19103743;19561170;19643912;19759913;19861517;19953284;19960345;20301317;20301629;20371676;20399152;21412945;21465257;21486904;21502511;21984210;24362567;24654937;24816145;3239952;7782601;7891378 54840 C9J8U3;C9JZ40;E7EUY4;E7EVB7;F8W6G5;F8WBD6;F8WBM3;Q6JV79;Q7Z2E3 AA494365;AB603741;ABBA01065073;ABBA01065074;ABBA01065075;AJ565850;AJ565851;AJ565852;AJ565853;AJ565854;AJ565855;AJ575566;AK000164;AK055672;AK131046;AL162590;AL353717;AMYH02019413;AX716699;AY040777;AY208829;AY208830;AY208831;AY208832;AY208833;AY208834;AY208835;AY208836;AY208837;AY208838;AY208839;AY208840;AY208841;AY208842;AY302067;AY302068;AY302069;AY302070;AY302071;AY302072;AY302073;AY302074;BC001628;BC032650;BC068107;BC104881;BQ957536;BX538161;CA429601;CH471071;CS185575;DA664623;DB042208;NG_012821;NM_001195248;NM_001195249;NM_001195250;NM_001195251;NM_001195252;NM_001195254;NM_175069;NM_175073;NR_036576;NR_036577;NR_036578;NR_036579;XM_006716791;XM_006716792;XR_428423 AAH01628;AAH32650;AAI04882;AAK91768;AAP86319;AAP86320;AAP86321;AAP86322;AAP86323;AAP86324;AAP86325;AAP86326;AAP86327;AAP86328;AAP86329;AAP86330;AAP86331;AAP86332;AAQ74130;AAQ74131;AAQ74132;AAQ74133;AAQ74134;AAQ74135;AAQ74136;AAQ74137;ADZ15765;BAA90985;BAG51552;BAK31015;CAD88901;CAD92454;CAD92455;CAD92456;CAD92457;CAD92458;CAD92459;CAD98041;CAE01427;CAJ42756;EAW58528;EAW58529;EAW58530;EAW58531;EAW58532;EAW58533;EAW58534;EAW58535;NP_001182177;NP_001182178;NP_001182179;NP_001182180;NP_001182181;NP_001182183;NP_778239;NP_778243;Q7Z2E3;XP_006716854;XP_006716855 Hs.20158 1765209;1846773;2121424;2163437;2174527;2174529;5020753;5093580 A005Z44;A009S13;G20636;G32803;RH16252;RH46890;SHGC-148705;SHGC-34030 AOA;AOA1;AXA1;EAOH;FHA-HIT;FLJ20157;MGC1072 EOAHA;OTTHUMP00000021189;OTTHUMP00000021190;OTTHUMP00000215291;OTTHUMP00000215292;OTTHUMP00000215296;OTTHUMP00000215302;OTTHUMP00000215305;OTTHUMP00000215306;OTTHUMP00000215307;OTTHUMP00000215310;forkhead-associated domain histidine triad-like protein APPROVED protein-coding ENSG00000137074 HGNC:15984 05892 208920;606350 REVIEWED 70369 AQP1 aquaporin 1 (Colton blood group) Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 7 7 7 p14 30940621 30954337 + 30951415 30965131 + 30911800 30925516 + 734971;2307072;2312795;2307071;2316076;2316077;2316078;5148011;5148031;5148033;5148029;5148013;6480464;5490120;6907045;8554872;8696006 18248364;18988797;19096774;19596320;19619613;19748503;20156423;20383338;21092735;21135737;21487926;21560328;24252214;9468475 10559675;10839360;10872456;10873606;11034202;11097616;11171962;11408278;11532455;11780053;11884383;11909995;11914159;11922632;12002613;12027013;12051745;12137754;12172703;12237771;12399631;12477932;12498798;12522663;12690205;12745312;12766090;12781664;12801959;12853948;1373524;14514735;14561230;14592814;14675051;14701836;14753493;14753494;15024704;15135660;15326289;15489334;15502805;15563082;15667881;15727941;15783300;15809704;15847654;16133142;16189514;16300893;16344560;16481371;16515633;16534779;16565507;16574458;16682607;16698771;16711029;16814974;16871401;17012249;17077939;17219999;1722319;17273788;17408468;17409744;17511167;17545093;17549682;17632520;17636236;17645239;17854859;17890385;17894331;17898873;18052958;18067501;18080132;18202181;18247144;18275976;18280225;18282122;18313673;18349152;18392839;18509662;18510579;18538351;18544259;18563339;18575775;18617525;18665841;18841368;19060904;19080511;19253825;19268465;19273840;19306058;19424603;19447967;19472194;19522191;19545896;19584911;19619954;19670620;19726340;19772916;19787701;19913121;20063900;2007592;20101282;20137115;20149606;20360993;20409716;20424473;20431033;20461409;20578142;20628061;20628086;20739606;20795314;20806077;20828513;20965731;20969805;21063116;21107133;21237499;21244858;21252246;21271497;21360438;21373963;21395179;21538271;21551254;21612401;21760919;21784068;21793635;21839760;21896312;22006723;22093331;22269467;22310126;22334691;22348807;22372348;22396660;22472942;22901156;22901921;22964306;23029502;23219802;23220481;23268390;23276695;23313295;23317544;23332061;23361277;23393355;23450058;23549977;23928039;24014128;24086369;24169407;24493792;3049610;3166547;7491270;7507481;7514605;7517253;7517546;7518771;7521540;7521882;7532004;7540589;7544358;7677994;7693713;8340403;8576117;8584435;8703970;9013443;9096382;9177353;9321919 358 B4DPF5;B4E220;B4E3E3;P29972 AACC02000087;AB451275;AB451402;ABBA01056814;AC004691;AC005155;AF480415;AK298091;AK298313;AK300995;AK301351;AK304684;AK309608;AK309688;AK309691;AK312656;AMYH02015460;AU122128;AY312580;AY312581;AY953319;BC022486;BC141905;BI837828;CH471073;DA197236;DA712111;M77829;NG_007475;NM_001185060;NM_001185061;NM_001185062;NM_198098;S73482;U41517;U41518 AAA58425;AAB31193;AAC16481;AAC23788;AAC50648;AAC50649;AAH22486;AAL87136;AAR16185;AAR16186;AAX24129;ABM83292;ABM86501;BAG35539;BAG60376;BAG60567;BAG62614;BAG62897;BAG65455;BAG70089;BAG70216;EAL24446;EAW93971;EAW93972;NP_001171989;NP_001171990;NP_001171991;NP_932766;P29972 Hs.76152 1646166;1660423;1666089;1745047;1789542;1789544;1789546;1856857;2125487;2142236;2143454;2152787 A007C48;AQP1;D7S2041E;D7S2065E;D7S2755;G68146;G68147;G68149;GDB:593256;STS-M77829;T03581;WI-9113 AQP-1;AQP-CHIP;CHIP28;CO;MGC26324 Colton blood group;OTTHUMP00000123398;OTTHUMP00000202461;OTTHUMP00000202462;aquaporin 1;aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group);aquaporin 1aquaporin 1 (Colton blood group);aquaporin-1;aquaporin-CHIP;channel-like integral membrane protein, 28-kDa;urine water channel;water channel protein for red blood cells and kidney proximal tubule APPROVED protein-coding ENSG00000240583 HGNC:633 00140 107776;110450 REVIEWED 1352752 AQP12B aquaporin 12B ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH zinc atom; zinc(0); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q37.3 235289033 235295664 - 241615835 241622317 - 240676418 240682900 - 6480464 12477932 653437 A6NM10;F2Z3N0;Q8IUS6 ABBA01048879;ABBA01048880;AC011298;AMYH02006099;BC041460;BC139748;BC157895;BC171912;NM_001102467 A6NM10;AAH41460;AAI39749;AAI57896;AAI71912;NP_001095937 Hs.437167 INSSA3;MGC149473 AQP-12B;OTTHUMP00000201388;aquaporin-12B;insulin synthesis associated 3 protein-coding ENSG00000185176 HGNC:6096 VALIDATED 736750 AQP11 aquaporin 11 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN endosomal lumen acidification (inferred); protein homooligomerization (inferred); proximal tubule development (inferred); FOUND IN cell surface; INTERACTS WITH aflatoxin B1; arsenite(3-); copper atom 11 11 11 q14.1 74608361 74629072 + 77300680 77321401 + 77589635 77610356 + 1580863;6480464 12477932;15489334;16107722;16303743;16650285;17207965;21118806;21988832;23359558;23643386;24250222 282679 Q8NBQ7 AB028147;ABBA01017426;AK075346;AK311096;AMYH02025136;AP000609;AP002789;BC040443;BJ994586;CH471076;CS051419;CX867790;NM_173039;XM_005273917 AAH40443;ADQ32983;BAC11558;BAC45004;CAI72204;EAW75030;EAW75031;NP_766627;Q8NBQ7;XP_005273974 Hs.503345 1680206;1723375;1726683;2151136;2174097 G62578;RH123239;RH92330;SHGC-1207;SHGC-31328 AQP-11;AQPX1 OTTHUMP00000228846;aquaporin-11 protein-coding ENSG00000178301 HGNC:19940 16503 609914 VALIDATED 1317133 APRT adenine phosphoribosyltransferase Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q24 73944514 73946979 - 88875877 88878342 - 88809469 88811934 - 1599204;1580863;1599201;5135035;6480464;6907045;7240710;8699517;8554872 15571218;2451510;6327016 10369268;10479485;10481956;10937693;11243733;116697;12477932;12665801;1353080;14674717;15196008;15489334;16130169;17126311;17353931;1746557;18029348;18399692;18781797;19056867;19399589;19738201;1985452;20098747;2067530;20706999;21139048;2135300;21635362;21832049;21890473;21906983;21963094;21987572;22053931;2227951;22505724;22623428;22934314;22939629;23000965;24250222;24816145;2502918;3343350;3531209;3554238;3680503;3684585;457664;7660991;7685481;7915931;8455250;869896;8882882;8889579;9298830;9521589 353 H3BQB1;H3BQF1;H3BQZ9;H3BSW3;P07741 ABBA01013586;AC092384;AMYH02032647;AY306126;BC106894;BC106895;BC107151;BM423481;BM550173;BU507629;CH471184;CR749423;HH961760;M16446;NG_008013;NM_000485;NM_001030018;U09817;Y00486 AAA51769;AAB84304;AAI07152;AAP45051;CAA68543;CAH18261;CBX51353;EAW66760;EAW66761;NP_000476;NP_001025189;P07741 Hs.28914 1741351;1778214;2120281 GDB:180915;RH68125;RH70957 AMP;APRTD;DKFZp686D13177;MGC125856;MGC125857;MGC129961 AMP diphosphorylase;AMP pyrophosphorylase;transphosphoribosidase APPROVED protein-coding ENSG00000198931 HGNC:626 00029 102600;614723 REVIEWED 70370 AQP2 aquaporin 2 (collecting duct) This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008] 12 12 12 q12-q13 49140628 49148768 + 50344524 50352664 + 49950741 49958881 + 734596;1580863;1601243;2314280;2314281;2314283;2314303;2314306;2314325;2314292;2314293;2314326;2314343;2314296;2314310;2314282;2314347;2312654;2314344;2314345;2312795;2314279;2313211;2314285;1303982;2312656;6480464;6907045;7240710;8699517;8554872 11035038;11380083;12021537;12191971;12218327;15037626;15579502;15705184;16434568;16582573;16641094;16845277;16968783;17229678;18296634;18431594;18971210;19096774;19147915;19293543;19458121;19461158;19585583;19701945 10372737;10710543;11076974;11297561;11456273;11509828;11536078;11929850;12050236;12051765;12194985;12208541;12477932;12566732;12631357;12787389;12819016;14514735;14593099;14662748;14702039;15012730;15100362;15155571;15326289;15458431;15489334;15703994;15922355;15956775;16049696;16159898;16221200;16288724;16449354;16483614;16563128;16580609;16825342;16902321;16928804;16979638;17192724;17550212;17636261;17763164;17957381;17965877;18040725;18066585;18247144;18389276;18515885;18519086;18678705;19138132;19923410;20301356;20379614;20390303;20403973;20416077;20452482;20673868;20722976;20724536;21063116;21209006;21237499;21252246;21715543;21824900;22403735;22644838;22732097;22778181;22889921;23078817;23150186;23326416;23364801;23409988;23852332;24733887;7510718;7512890;7522228;7524315;7525161;7532304;8125298;8140421;8584435;8882880;9048343;9268644;9302264;9321919;9402087;9550615;9649557;9745427 359 F8VPL3;F8W0S2;P41181 ABBA01031544;AC025154;AC067739;AF147093;AI792401;AK055824;AK225940;AMYH02026451;BC042496;CH471111;CR542024;D31846;NG_008913;NM_000486;S73196;S73197;Z29491 AAB31998;AAB31999;AAD38692;AAH42496;BAA06632;CAA82627;CAG46821;EAW58109;NP_000477;P41181 Hs.130730 2141900 STS-D31846 AQP-2;AQP-CD;MGC34501;WCH-CD ADH water channel;OTTHUMP00000241925;OTTHUMP00000241926;OTTHUMP00000242769;aquaporin 2;aquaporin-2;aquaporin-CD;collecting duct water channel protein;water channel protein for renal collecting duct;water-channel aquaporin 2 APPROVED protein-coding ENSG00000167580 HGNC:634 00141 107777;125800 REVIEWED 1346803 AQP12A aquaporin 12A ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q37.3 235289033 235295670 - 241631262 241637900 + 240691845 240698483 + 1580863;6480464 15809071;23359558 375318 C9J6F6;Q8IXF9 AB040748;ABBA01048880;AC011298;AMYH02006099;CH471063;NM_198998 AAI72337;BAC45006;EAW71211;NP_945349;Q8IXF9 Hs.534650 AQP-12;AQP12;AQPX2 OTTHUMP00000164503;OTTHUMP00000201387;aquaporin 12;aquaporin X2;aquaporin-12A protein-coding ENSG00000184945 HGNC:19941 16504 609789 VALIDATED 70371 AQP5 aquaporin 5 Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008] 12 12 12 q13 49151383 49155562 + 50355279 50359465 + 49961496 49965682 + 727251;1580863;2312795;70240;5490152;6480464;6484113;7240710;8554872;8699517 11773623;19096774;19616516 10476940;11245621;11408278;12477932;12522663;12565800;12801959;15342556;15489334;16189514;16341674;16500622;16537379;17043812;17553491;17640479;18042467;18215141;18280225;18305162;18449356;18478076;18583321;18612408;18768791;18846354;18853286;19060904;19166033;19199708;19273840;19340551;19652646;19664333;20106632;20360993;20362698;20669661;20806077;21151978;21244858;21251364;21315850;21427539;21455588;21524183;21950762;21973049;21988832;22048942;22145049;22470085;22472942;22576684;22732097;23160677;23176748;23203809;23313152;23326416;23352976;23382834;23392848;23436048;23473857;23797770;23830519;23842530;23867895;24224160;24752576;8621489;9268644 362 P55064 ABBA01031544;ABBA01031545;ABBA01031546;AC025154;AMYH02026451;BC032946;BP272197;BQ083334;BX095029;CH471111;CR541989;CR542022;NG_033883;NM_001651;U46566;U46567;U46568;U46569;XM_005268838 AAC50474;AAH32946;ABM82149;ABM85332;CAG46786;CAG46819;EAW58110;NP_001642;P55064;XP_005268895 Hs.298023 AQP-5;PPKB OTTHUMP00000241927;aquaporin-5 APPROVED protein-coding HGNC:638 02706 600231;600442 REVIEWED 735519 AQP4 aquaporin 4 This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. The encoded protein is the predominant aquaporin found in brain. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 18 18 18 q11.2-q12.1 21242174 21255883 - 24432007 24445735 - 26852043 26865752 - 730277;1580863;2312795;5490116;5148010;5148027;5148028;5148037;5490117;5148011;5148023;5148026;5148029;5490122;5148016;5148022;5148035;5148036;5148014;5148025;2316076;5490126;5148024;5490118;5490153;5148012;5490120;5148006;5148030;5490154;2326035;5148033;5148020;5148013;5148032;5490129;5490152;5148008;5148015;5148031;5148034;6480464;5684013;6907045;8698660;734598;8547867;8695999;8695955;8695957;8696034;8695953;8662893;8698661;8696005;8698664;8696030;8696028;8698645;8696022;8698651;8695993;8696026;8696032;8696033;8696023;8696024;8695996;8696006;8696036 11406631;15695511;16087714;16219025;17454447;17468440;17702782;18420727;18836575;19070604;19089902;19096774;19616516;19660138;19748503;19806476;19864112;20047900;20111877;20156423;20216911;20383338;20451280;20461409;20483026;20517941;20541575;20680099;20680636;20720509;20728226;20815926;20851747;20886625;20924629;20938728;20979759;21056916;21063116;21083433;21092735;21107133;21135737;21157915;21187412;21255222;21280976;21487926;21488209;21560328;21718723;21724913;21771203;21904632;22271321;22361023;22449442;22943863;22987392;23024849;23116879;23707078;23890015;23995423;23999580;24252214;7528931 11245621;11408278;11717465;11742978;11890849;12107411;12137754;12477932;12715185;14627352;14753493;15200272;15489334;16103109;16133546;16194264;16778375;16814974;16831965;16871401;17207965;17335082;17549682;17645239;17890008;17899684;17984171;18019416;18071147;18095136;18280225;18309154;18392839;18435417;18437047;18462810;18474738;18510734;18511455;18516975;18641458;18854171;19000426;19028829;19112001;19140826;19153045;19209385;19266146;19366470;19383790;19445480;19465451;19487655;19752303;19761816;19764565;19772916;19938104;19965522;20007705;20013023;20028711;20106632;20109536;20131265;20138100;20141731;20227773;20232212;20339523;20351659;20463974;20467785;20577926;20628061;20685122;20934410;20953960;20965731;21107126;21212277;21241398;21252246;21262839;21300735;21303170;21321193;21333492;21424125;21454592;21491501;21524183;21548930;21621278;21689527;21784068;21813785;21896312;21900637;21908481;21909659;21914143;21952128;21965418;21968684;21981006;22069320;22083667;22248725;22291033;22307776;22334710;22360420;22372348;22378467;22393049;22394609;22507888;22540328;22554469;22608667;22628234;22679274;22714714;22718347;22732097;22773464;22777185;22802001;22808259;22817997;22829325;22886979;22906356;22925751;22987438;23008451;23054238;23232103;23270503;23378324;23456674;23658379;23664693;23673145;23677744;23746426;23915916;23928039;23950863;23973312;23997151;24014171;24182872;24260168;24289379;24356448;24361961;24388217;24415568;24727946;24733266;7559426;8125298;8601457;8617713;8855281;9676432;9824541 361 F1DSG4;H0Y3H5;J3KRM4;P55087 AB128929;AB209156;ABBA01022569;AC018371;AK026728;AK222684;AK295069;AL119338;AL138136;AMYH02034460;AV725241;BC022286;BC030745;BC045780;BI596912;BI667387;BI917845;BQ638704;CD105892;CH471088;CK001094;D63412;HQ901095;KF055862;N50070;NG_029560;NM_001650;NM_004028;R35726;U34845;U63613;U63622;U63623 AAB26957;AAB26958;AAC50284;AAG17964;AAH22286;ADQ32133;ADZ13511;AGX27825;BAA09715;BAD22823;BAD92393;BAD96404;BAG58116;EAX01228;EAX01229;NP_001641;NP_004019;P55087 Hs.315369 1648568;1649960;1666233;1669551;1674628;1678671;1712663;1734586;1795378;2143535;2148688;2164624;7186708 A002Q03;A006W40;AQP4_717;D18S1195;D18S1223;D18S941E;RH121996;RH18229;RH25921;SHGC-36589;WI-13598;WI-21214 AQP-4;HMIWC2;MGC22454;MIWC;WCH4 OTTHUMP00000162792;aquaporin 4 isoform delta4;aquaporin type4;aquaporin-4;mercurial-insensitive water channel APPROVED protein-coding ENSG00000171885 HGNC:637 02631 600308 REVIEWED 737143 AQP6 aquaporin 6, kidney specific The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008] 12 12 12 q13 49162741 49167043 + 50360874 50370922 + 49967090 49977139 + 1580863;2312795;6480464 19096774 12177001;12477932;12522663;19680475;20461409;8812490;9268644 363 F8VW87;Q13520 ABBA01031546;AC025154;AL137716;AMYH02026451;BC065275;CH471111;NM_001652;U48408;U48409;XM_006719375;XR_245925 AAB41566;AAB41567;AAI56044;AAI56930;CAB70889;EAW58111;NP_001643;Q13520;XP_006719438 Hs.54505 1689999;1690838;5037552 D8S2279;RH98744;RH98915 AQP-6;AQP2L;KID;hKID OTTHUMP00000164830;aquaporin 2-like, kidney specific;aquaporin 6;aquaporin-2-like;aquaporin-6;aquaporin-6, kidney specific;kidney-specific aquaporin APPROVED protein-coding ENSG00000086159 HGNC:639 03226 601383 REVIEWED 1344809 AQP10 aquaporin 10 This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127365303 127369516 + 154293592 154297801 + 154321116 154325325 + 1580863;2312795;6480464 19096774 11573934;12084581;12477932;15489334;15898950;17207965;17575980;17975119;18678926;19023099;19204726;19913121;20628086;21691092;21733844;23382902 89872 Q96PS8 AB066105;ABBA01049481;AF159174;AK314993;AL162591;AL354980;AMYH02001921;BC069607;BC074896;BC074897;CH471121;NM_080429 AAH69607;AAH74896;AAH74897;AAL25998;ADQ32883;BAB91223;BAG37489;EAW53209;EAW53210;EAW53211;NP_536354;Q96PS8 Hs.259048 AQP-10;AQPA_HUMAN OTTHUMP00000034195;OTTHUMP00000034196;aquaglyceroporin-10;aquaporin-10;small intestine aquaporin APPROVED protein-coding ENSG00000143595 HGNC:16029 07361 606578 REVIEWED 1347753 AQP4-AS1 AQP4 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 18 18 18 q11.2 21255439 21326075 + 24444555 24770662 + 26865308 26935946 + 8554872 12477932;14702039;15489334 147429 ABBA01022568;ABBA01022569;AC010854;AC018371;AK055069;AMYH02034460;BC043377;BC105127;BC112070;CH471088;HG509870;HG509871;HG509872;KF456359;NR_026908 BAB70850;EAX01231 Hs.559280 1649427;1681090;1712663;5014051;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;G31028;L18426;RH121996;RH92179 C18orf16;CHST9-AS1;FLJ30507;MGC138275 APPROVED ncrna ENSG00000260372 HGNC:26399 08510 PREDICTED 68638 AQP3 aquaporin 3 (Gill blood group) This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. [provided by RefSeq, Aug 2011] 9 9 9 p13 33371265 33377697 - 33441152 33447631 - 33441154 33447633 - 704374;704407;1580863;2312795;5490152;6480464;6484113;6907045 12517734;12595491;19096774;19616516 11751877;11918716;12234316;12239222;12477932;12522663;12769265;12773542;14514735;14521551;14675200;14702039;15164053;15375592;15489334;15703994;16043462;16344560;16596446;16638588;16672223;16918518;17056099;17471492;17545093;17943189;17968524;18036046;18197497;18247144;18280225;18435676;18543247;18601899;18678926;18718702;19184071;19322201;19393693;19545896;19619514;19913121;20106632;20141731;20364107;20428189;20485009;20546216;20596606;20628086;21063116;21135872;21191421;21237499;21252246;21276418;21401805;21457357;21538271;21907710;22197473;22211241;22535323;22576684;22624030;22808259;22814259;22901156;23017148;23041062;23043286;23152856;23165320;23463292;23797770;24224160;24260356;24338365;24418925;24452376;24887009;7543093;7558005;8641135;9525951;9558461 360 Q92482 AB001325;ABBA01065052;AJ493597;AK095363;AK292208;AK303206;AK315760;AL356218;AMYH02019421;BC012988;BC013566;BF437236;BT007199;CH471071;CR541991;CR542025;D50486;DA976040;DQ083949;JA738585;NG_007476;NM_004925 AAH13566;AAP35863;AAY68214;BAA09077;BAA19237;BAF84897;BAG38113;BAG64296;CAD38526;CAG46788;CAG46822;CCF76945;EAW58500;EAW58501;EAW58502;EAW58503;EAW58504;NP_004916;Q92482 Hs.234642 1663111;1773868;1797292;2145055;5113609;5491306 AQP3_2497;Aqp3;RH46411;RH46932;SGC34487;SHGC-34032 AQP-3;GIL Gill blood group;OTTHUMP00000021206;aquaglyceroporin-3;aquaporin 3;aquaporin 3 (GIL blood group);aquaporin-3 APPROVED protein-coding ENSG00000165272 HGNC:636 08970 600170;607457 REVIEWED 736375 AQP7 aquaporin 7 Aquaporins/major intrinsic protein (MIP) are a family of water-selective membrane channels. Aquaporin 7 has greater sequence similarity with AQP3 and AQP9 and they may be a subfamily. Aquaporin 7 and AQP3 are at the same chromosomal location suggesting that 9p13 may be a site of an aquaporin cluster. Aquaporin 7 facilitates water, glycerol and urea transport. It may play an important role in sperm function. [provided by RefSeq, Jul 2008] 9 9 9 p13 33315070 33332637 - 33384948 33402643 - 33384950 33402645 - 69753;1580863;1626292;1626289;2312795;6480464 15338270;17566090;19096774;9252401 11952783;12477932;14702039;15164053;15252450;16325777;17351148;17562358;18401671;18718702;19615702;20463097;21609198;22206455;22425521;22899094;23001483;23235401;23290745;9405233;9714739;9824541;9931374 364 B7Z4U2;B7Z7F6;O14520;Q5T5L3;Q5T5L4;Q5T5L5;Q5T5M0;Q5T5M1;Q6P5T0 AB006190;AB052626;ABBA01065057;ABBA01065058;ABBA01065059;ABBA01065060;AK055744;AK294028;AK297860;AK297885;AK300716;AK301949;AK310456;AK315879;AL356218;AMYH02019420;BC062701;BC119672;BC119673;CH471071;DQ786216;NG_027764;NM_001170;XM_005251453;XM_005251454;XM_006716765 AAH62701;AAI19673;AAI19674;BAA21745;BAC05693;BAF98770;BAH11653;BAH12678;BAH12686;BAH13332;BAH13592;EAW58505;EAW58506;NP_001161;O14520;XP_005251510;XP_005251511;XP_006716828 Hs.455323 5022578;5111959;5124703 D1S1423;G43491;RH64915 AQP-7;AQP7L;AQP9;GLYCQTL;MGC149555;MGC149556 AQPap;OTTHUMP00000021216;OTTHUMP00000021220;aquaglyceroporin-7;aquaporin adipose;aquaporin-7;aquaporin-7-like APPROVED protein-coding ENSG00000165269 HGNC:640 04277 602974;614411 REVIEWED 1603335 AQP7P1 aquaporin 7 pseudogene 1 INTERACTS WITH cadmium atom 2 9 9 q13 89603292 89622593 + 67270215 67289492 - 63315243 63334520 - 6480464 11952783;12477932 375719 AB052627;AB052630;ABBA01017695;ABBA01017696;AK128231;AL845321;BC070322;BC071803;NR_002817;XR_426389 Hs.658215 5111959;5124703 G43491;RH64915 bA251O17.3 pseudo HGNC:32048 PROVISIONAL 1604890 AQP7P3 aquaporin 7 pseudogene 3 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); FOUND IN extracellular vesicular exosome 2 9 9 p12 89603533 89636019 + 42858152 42893138 + 65877574 65912560 + 6480464 11952783;12477932 441432 A6NL99 AC129778;AMYH02020798;BC052332;NR_026558 A6NL99 Hs.743215 AQPap-3 pseudo HGNC:31976 17406 PROVISIONAL 737411 AQP8 aquaporin 8 Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008] 16 16 16 p12 24008196 24020163 + 25228285 25240253 + 25216964 25228932 + 1580863;6480464;5490152;6907045 19616516 10393433;11231887;11329013;11717661;12477932;12712100;12801959;15489334;17207965;17461471;17545093;17636236;18788571;18948439;19087520;19563057;20144166;20424473;20732771;22192778;22901156;23595390;23679281;23953589;24055034;24440277;8125298;9325099;9806845 343 O94778;Q53GF6 AB013456;ABBA01017123;AC008741;AF067797;AK222964;AK222975;AMYH02031742;BC040630;BG221545;CH471145;NM_001169 AAF19050;AAH40630;ADQ33080;BAA34223;BAD96684;BAD96695;EAW55769;EAW55770;NP_001160;O94778 Hs.176658 AQP-8 OTTHUMP00000122504;aquaporin-8 APPROVED protein-coding ENSG00000103375 HGNC:642 04778 603750 REVIEWED 735505 AQP9 aquaporin 9 The aquaporins are a family of water-selective membrane channels. The protein encoded by this gene allows passage of a wide variety of noncharged solutes. It stimulates urea transport and osmotic water permeability; there are contradicting reports about its role in providing glycerol permeability. The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. [provided by RefSeq, Jul 2008] 15 15 15 q 35319964 35368212 + 58430374 58478110 + 58138209 58185911 + 1580863;2312795;2326035;6480464;6907045;7240710 19096774;20216911 10564231;11466204;11597198;12477932;12681500;15336539;15489334;15592307;16480766;17081983;17346701;17525633;17545093;17636236;18197497;18401671;18652774;18718702;18762715;19100828;19481256;19615702;19629726;19772916;19802720;19916714;19953087;20220109;20378617;20379614;20424473;20587318;20732771;20960106;21873454;21945491;22262958;22319637;22425521;22916037;23238960;23383108;23448163;23563754;23573219;23612070;23866971;24086629;9514918;9733774 366 H0YK62;O43315 AB008775;ABBA01038985;ABBA01038986;AC025431;AC066616;AF016495;AF102870;AK300055;AK313214;AMYH02030522;BC026258;BE042553;CB528930;CH471082;CR542027;DC410284;HC250945;HC311134;NG_011975;NM_020980 AAF16677;AAF27983;AAH26258;BAA24864;BAG36029;BAG61864;CAG46824;CBJ05770;CBJ21222;EAW77532;EAW77533;EAW77534;NP_066190;O43315 Hs.104624 1339044;1676188;1681999;1724907;1759003;1767355;1794866;1795220;1849119;2181789 AQP9_51;ATC-P10583;D15S1283;D15S198;PMC61180P1;RH119218;RH1645;RH98507;SHGC-150628;SHGC-2193 AQP-9;HsT17287;SSC1 OTTHUMP00000163469;aquaglyceroporin-9;aquaporin-9;small solute channel 1 APPROVED protein-coding ENSG00000103569 HGNC:643 04223 602914 REVIEWED 1601913 AQP7P2 aquaporin 7 pseudogene 2 INTERACTS WITH aflatoxin B1; benzo[a]pyrene 2 9 9 q21.11 89603418 89621393 + 69633922 69651282 - 64621504 64638864 - 6480464 11952783;12477932 389756 AL445665;AMYH02020865;NG_023409 pseudo HGNC:32049 INFERRED 1314717 AQR aquarius intron-binding spliceosomal factor ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA splicing, via spliceosome (inferred); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN catalytic step 2 spliceosome; membrane; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 15 15 15 q14 11907907 12021336 - 35148552 35261995 - 34856351 34969794 - 6480464;6907045;8554872 11991638;12477932;14702039;15489334;16949364;18854154;19615732;19946888;20360068;20379614;20588308;21139048;21890473;21906983;22365833;22446626;22586326;23000965;23084401;24457600;24639526;24816145;9626505;9628581 9716 H0YH15;H0YLN9;O60306 AB011132;ABBA01038515;ABBA01038516;ABBA01038517;AC018868;AK001173;AK291615;AK315815;AL703893;AMYH02030179;AMYH02030180;AMYH02030181;BC027452;BC036913;BC070379;BC108262;BC127111;BC127112;BX647820;BX648611;CH471125;EF553519;NM_014691 AAH36913;AAH70379;AAI08263;AAI27112;AAI27113;ABQ66265;BAA25486;BAF84304;BAF98706;EAW92319;EAW92320;EAW92321;NP_055506;O60306 Hs.510958 1671577;2109053;2144276;2191387 AQR_8983;MARC_21173-21174:1027090229:1;WI-14003;WI-16389 DKFZp686B23123;IBP160;KIAA0560;fSAP164 aquarius homolog;functional spliceosome-associated protein 164;intron-binding protein aquarius;intron-binding protein of 160 kDa APPROVED protein-coding HGNC:29513 12468 610548 VALIDATED 1348364 ARAF A-Raf proto-oncogene, serine/threonine kinase This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012] X X X p11.4-p11.2 51615774 51626577 + 47420499 47431320 + 47561100 47571921 + 5686410;6480464;6907045;8554872 22177953 10848612;10967104;11812000;11909642;11952167;11969417;12477932;1262038;12620389;14684750;14688025;15324660;15489334;15736953;15763428;15772651;15778465;16189514;16344560;16964243;16980614;17081983;17353931;17380122;17535970;17603482;17979178;18662992;19608861;19667065;20145135;20706999;20936779;21139048;21903422;21988832;22268729;22926515;22939624;23352452;23591895;23602568;24114843;24250222;24255178;24447338;24457600;24652991;24816145;25036637;2717185;3029685;3529082;7731720;8020955;8157000;8394352;8619474;8621729;9042965;9110174 369 B4DMG5;B4DV85;P10398;Q96II5 AB158254;AB208831;ABBA01052378;ABBA01052379;AF052136;AK130043;AK297453;AK300975;AK307747;AMYH02039288;BC002466;BC007514;BT019864;CA424869;CH471164;DA264472;DC362427;KF459100;L24038;M13829;NG_016339;NM_001256196;NM_001256197;NM_001654;U01337;X04790;XM_006724529;Z84466 AAA65219;AAB03517;AAB08754;AAH02466;AAH07514;AAV38667;ABM83582;ABM86822;BAD92068;BAE66645;BAG59877;BAG62597;CAA28476;EAW59310;EAW59311;EAW59312;NP_001243125;NP_001243126;NP_001645;P10398;XP_006724592 Hs.446641 1657346;1658844;1678731;1685431;1689961;1702190;1793066;1850481;2150920;2218238 ARAF1__4348;G23742;GDB:182582;PMC193924P5;RH79745;RH79877;RH93525;SGC30176;STS-M13829;WI-6972 A-RAF;ARAF1;PKS2;RAFA1 A-Raf proto-oncogene serine/threonine-protein kinase;OTTHUMP00000023212;Oncogene ARAF1;Ras-binding protein DA-Raf;proto-oncogene A-Raf;proto-oncogene A-Raf-1;proto-oncogene Pks;serine/threonine-protein kinase A-Raf;v-raf murine sarcoma 3611 viral oncogene homolog 1 APPROVED protein-coding ENSG00000078061 HGNC:646 02405 311010 REVIEWED 3277469 AQP7P4 aquaporin 7 pseudogene 4 9 9 q13 67038569 67048428 + 63133597 63143456 + 100132938 AL591379;AMYH02020782;NG_021659 pseudo HGNC:32056 INFERRED 8663374 ARAFP1 ARAF pseudogene 1 7 7 7 57117117 57117732 - 63398281 63398896 - 63937903 63938518 - 100421741 ABBA01027968;AC092634;AMYH02015847;NG_026477 pseudo HGNC:50824 INFERRED 1604505 AQPEP laeverin ENCODES a protein that exhibits metallopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); cyclosporin A 5 5 5 q23.1 111246534 111311673 + 115298151 115363303 + 115962454 116027606 + 6480464;8554872 12477932;14702039;14706636;15489334;15897020;16804865;17525158;19578876;19819873;20379614;21212512;22402206 206338 Q0P5U8;Q6Q4G3 ABBA01069029;AC010282;AC034236;AK027809;AK075131;AK291655;AMYH02012011;AY560010;BC036440;BC045809;BC060869;BC068560;BC070028;BC094716;BC109022;BC109023;BX096521;CH471086;KF457980;NM_173800;XM_005271919;XM_006714571;XR_427708 AAH60869;AAH68560;AAI09023;AAI09024;AAS66719;BAC11422;BAF84344;EAW48946;EAW48947;EAW48948;EAW48949;EAW48950;NP_776161;Q6Q4G3;XP_005271976;XP_006714634 Hs.98288 1335267;1655033;1678963;1685265;1712965;1759731;1766983 D5S2055;RH120572;RH66556;RH98415;RH98999;SHGC-151261;SHGC-152535 AP-Q;APQ;FLJ90650;LVRN;MGC125378;MGC125379 CHL2 antigen;OTTHUMP00000159130;OTTHUMP00000222937;aminopeptidase Q APPROVED protein-coding ENSG00000172901 07118 610046 VALIDATED 6481281 ARAP1-AS1 ARAP1 antisense RNA 1 100874075 AP003065 APPROVED ncrna HGNC:39993 2306588 ARAFP3 ARAF pseudogene 3 7 7 7 q11.21 59675983 59676957 - 62803095 62804112 + 63342717 63343734 + 1505215;9847074 285893 ABBA01018529;AC006455;NG_003157 1667105 ARAF2 ARAF3P;ARAFPS2 APPROVED pseudo HGNC:35474 INFERRED 5131395 ARAP1-AS2 ARAP1 antisense RNA 2 11 11 q13.4 69716083 69721727 + 72411519 72416889 + 100506020 AK125753;XR_110891;XR_111206;XR_171905 Hs.503165 1782472 SHGC-156281 FLJ43765 APPROVED ncrna HGNC:39994 1606341 ARAFP2 ARAF pseudogene 2 7 7 7 q11.21 59675988 59676957 - 62864760 62865776 - 63404382 63405398 - 12477932;1505215;2717185;8020955;9847074 644000 AC073188;AMYH02015830;BC033982;L24037;NG_008381 1667105 ARAF2 ARAF2;ARAF2P;PKS1 ARAFPS APPROVED pseudo HGNC:647 INFERRED 735652 AR androgen receptor The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. 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367 E7EVX6;E9PEG3;F1D8N5;F5GZG9;P10275 ABBA01067242;ABBA01067243;ABBA01067244;ABBA01067245;ABBA01067246;ABBA01067247;ABBA01067248;ABBA01067249;ABBA01067250;ABBA01067251;ABBA01067252;ABBA01067253;ABBA01067254;ABBA01067255;ABBA01067256;ABBA01067257;ABBA01067258;ABBA01067259;ABBA01067260;ABBA01067261;AF162704;AF321914;AF321915;AF321916;AF321917;AI352339;AL049564;AL158016;AL356358;AMYH02039638;AX453758;BC132975;CH471132;FJ235919;FJ235920;GU208210;HQ692823;JB048765;KF720403;KF720404;KF720405;KJ534771;L29496;M20132;M20260;M21748;M23263;M27430;M34233;M35851;M58158;M73069;NG_009014;NM_000044;NM_001011645;S79366;S79368;U16371 AAA51729;AAA51735;AAA51770;AAA51771;AAA51772;AAA51774;AAA51775;AAA51778;AAA51780;AAA51886;AAB21256;AAB21257;AAB60346;AAD45921;AAI32976;AAK09423;AAK09424;AAK09425;AAK09426;ACN39562;ACN39563;ACZ81436;ADZ17334;AHC70786;AHC70787;AHC70788;AHW56411;CCV20035;EAX05380;NP_000035;NP_001011645;P10275 Hs.76704 1662767;1667291;1677790;1702308;1702966;1703046;1729259;1729269;1729273;1729277;1729279;1740911;1740915;1740917;1740919;1740931;1740933;1740935;1740937;1740939;1740941;1740943;1741845;1742003;1742277;1742377;1744515;1745941;1792150;1793336;1793338;1793340;1797302;1854524;2119949;2122463;2124270;2137901;2154697;2190489;5117446;7185477 AF020219;AR;AR_1980;D19S216;DXS1397;DXS7498;DXS7751;DXS9736;G64112;G64113;G64114;G64115;G64116;G64286;GDB:176283;GDB:176286;GDB:176287;GDB:176288;GDB:176322;GDB:176323;GDB:176324;GDB:176326;GDB:176327;GDB:176328;GDB:176329;GDB:185508;GDB:188670;GDB:194743;GDB:196546;GDB:197027;GDB:511610;GDB:555517;GDB:600694;PMC137585P1;PMC20963P1;PMC20963P2;PMC20963P3;RH11082;RH99038;STS-M20132;STS-N64522;WI-20403 AIS;DHTR;HYSP1;KD;NR3C4;SBMA;SMAX1;TFM HUMARA;Kennedy disease;OTTHUMP00000023450;OTTHUMP00000217211;androgen nuclear receptor variant 2;dihydrotestosterone receptor;nuclear receptor subfamily 3 group C member 4;spinal and bulbar muscular atrophy;testicular feminization APPROVED protein-coding ENSG00000169083 HGNC:644 02437 176807;300068;300633;312300;313200;313700 REVIEWED 1344946 ARCN2 archain 2 371 HGNC:650 1315077 ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008] 4 4 4 p14 36507143 36685553 - 36067620 36245979 - 36065998 36244357 - 1580863;6480464;6907045;8554872 11804589;11804590;12477932;15815621;17077126;17081983;18615156;20467438;20823205;22959728;23251661;23295182;9628581;9847074 116984 A7E2A5;D6RAD6;D6RC39;Q8WZ64 AB011152;ABBA01074291;AC098827;AC104078;AC108033;AC109818;AC116623;AF411982;AF439781;AK126864;AMYH02009018;AW274408;AY049733;BC105089;BC105091;BC150258;BX104334;CH471069;NM_015230;XM_005262638;XM_005262640;XM_005262642;XM_005262643;XM_006713991 AAI05090;AAI05092;AAI50259;AAI60097;AAL04166;AAL12170;AAL32459;AAY40927;BAA25506;EAW92870;EAW92871;EAW92872;NP_056045;Q8WZ64;XP_005262695;XP_005262697;XP_005262699;XP_005262700;XP_006714054 Hs.479451 1357240;1716405;1728087;1739053;1848845;1848847;2218370;7184810 CENTD1_4556;D21S1261;D4S2701;G63315;RH121383;SHGC-24738;SHGC-50521 CENTD1;FLJ13675;FLJ44916;KIAA0580;PARX;cnt-d1 Arf and Rho GAP adapter protein 2;OTTHUMP00000123468;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2;centaurin, delta 1;centaurin-delta-1 APPROVED protein-coding ENSG00000047365 HGNC:16924 09439 606645 REVIEWED 1321262 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 11 11 11 q13.4 69700678 69768000 - 72396114 72463465 - 72685069 72752389 - 2316188;6480464;6484113;6907045;8554872 14559250 11804589;11804590;12168954;12477932;15489334;15607035;16169070;16344560;17081983;18003747;18165900;18764928;18939958;19380743;19531213;19666464;19738201;20360068;20554524;20581827;20889853;21139048;21267535;21275903;21832049;21873549;21890473;21900206;22357923;22446963;22573888;22581228;24439111;9872452 116985 E7EU13;F5GWN4;F5GWQ2;F8WBT0;H0YGD1;Q96P48 AB018325;ABBA01017533;ABBA01017534;AF411983;AJ621557;AJ706973;AK160383;AMYH02025079;AP003065;AY049732;AY553630;BC008315;BC021244;BC056401;BC140792;BC144562;BQ921498;CD251362;CH471076;DA186424;NM_001040118;NM_001135190;NM_015242 AAH08315;AAH56401;AAI40793;AAI44563;AAL04167;AAL12169;AAT36325;BAA34502;BAD18726;CAF21317;EAW74863;EAW74864;EAW74865;EAW74866;NP_001035207;NP_001128662;NP_056057;Q96P48 Hs.503165 1765247;1782472;1788420;2175645;2183536;2218372 A006F43;CENTD2_4557;D11S1002;SHGC-148738;SHGC-156281;fb93h06.x1 CENTD2;KIAA0782;cnt-d2 ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology domains-containing protein 1;OTTHUMP00000211458;OTTHUMP00000211459;OTTHUMP00000211460;OTTHUMP00000211461;OTTHUMP00000211462;OTTHUMP00000211463;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1;centaurin, delta 2;centaurin-delta-2 APPROVED protein-coding ENSG00000186635 HGNC:16925 09440 606646 REVIEWED 1344658 ARCN1 archain 1 This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 115603886 115634520 + 118443078 118473748 + 118572363 118603033 + 1580863;6480464 10921873;11031247;12388752;12477932;14729954;15489334;16196087;16344560;16956762;1898986;19615732;19946888;20360068;21139048;21832049;21890473;21906983;21963094;22053931;22505724;22623428;22750876;22863883;22939629;23000965;23300798;24457600;24816145;25015289;25036637;7782067;8355790;8533093;8599108;8854871;8858162;8940050;9482852;9751720 372 B0YIW5;B0YIW6;E9PK34;P48444 AA856562;ABBA01039702;ABBA01039703;AK304019;AK312298;AMYH02025644;AMYH02025645;AP000941;AU125652;BC064936;BC080638;BC093636;BC093638;BI560739;BQ018687;BX640860;CH471065;CR988766;DB216489;EF444951;NM_001142281;NM_001655;X81197;XM_005271542 AAH64936;AAH93636;AAH93638;ACA05943;ACA05944;BAG35225;BAG64934;CAA57071;CAE45922;EAW67397;EAW67398;EAW67399;NP_001135753;NP_001646;P48444;XP_005271599 Hs.33642 1654587;1706252;1725761;2131558;2191203;5022578;5037552 D1S1423;D8S2279;G62126;HSC26A042;MARC_16122-16123:1018032385:1;SHGC-80669;WI-12394 COPD OTTHUMP00000232677;OTTHUMP00000232678;OTTHUMP00000232680;archain vesicle transport protein 1;coatomer delta subunit;coatomer protein complex, subunit delta;coatomer protein delta-COP;coatomer subunit delta;delta-COP;delta-coat protein APPROVED protein-coding ENSG00000095139 HGNC:649 02893 600820 REVIEWED 730952 ARC activity-regulated cytoskeleton-associated protein INVOLVED IN cell migration; cytoskeleton organization; regulation of cell morphogenesis; ASSOCIATED WITH Hearing Loss; Hearing Loss, Noise-Induced (ortholog); Musculoskeletal Abnormalities (ortholog); FOUND IN cytoplasm; plasma membrane; INTERACTS WITH (S)-nicotine; all-trans-retinoic acid; amiodarone 8 8 8 q24.3 140003980 140007899 - 143692405 143695833 - 142611044 142614472 - 734603;6480464;8655538;8655559;8655535;7240710 10196175;17275194;18524887;18607918 10970730;11117363;12477932;15103018;15489334;16189514;17120280;17466953;21834987;21906983;22036569;22302811;22584581;22622366;23671107;24945773;9039502 23237 Q7LC44 ABBA01029411;ABBA01029412;AC139676;AF193421;AF248637;AI096899;AMYH02018925;AP006547;BC012321;BC075802;BI752734;CH471162;D87468;HI574238;NM_015193 AAF07185;AAG33705;AAH12321;AAH75802;ABM84592;ABM86706;BAA19667;CBX47608;EAW82320;EAW82321;NP_056008;Q7LC44 Hs.40888;Hs.743662 1795380;2147450 ARC_303;SGC31190 Arg3.1;KIAA0278 ARC/ARG3.1;OTTHUMP00000165993;activity-regulated gene 3.1 protein homolog protein-coding ENSG00000198576 HGNC:648 12469 612461;614937 VALIDATED 1345760 AREG amphiregulin The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014] 4 4 4 q13.3 72671109 72680980 + 75310853 75320726 + 74445136 74455009 + 1578719;1578721;1580863;1578718;2289950;2292662;2292664;2292660;2292661;2292663;2289980;2292658;2292659;2292665;2292668;2317963;6480464;6484113;6907045 10225449;11133810;11507076;11523048;12370739;14716741;15509566;15955087;15982853;16438846;16469638;16962163;18421211;8543395;8621257 10085134;10389762;10424781;10490105;11038170;11469683;11494130;11719440;11859273;11942969;12356750;12477932;12568494;12711607;12743035;1333777;14633617;14702039;15186320;15254267;15284208;15474502;15489334;15685553;15696081;15696083;15735670;15767261;16088955;16207795;16213893;16336275;16470170;16641105;16713569;16888076;17035230;17321672;17525275;17548638;17659070;17942395;17960400;17962208;18045238;18325497;18398673;18437539;18470483;18560449;18811692;18835871;18946024;18955794;19003995;19070973;19337692;19344731;19494503;19587163;19609315;19735466;19740107;19825997;19895983;19915156;19935651;20103632;2017164;20237496;20428186;20567134;20628624;20651071;20651357;20719813;20726858;20811902;20856199;21036386;21161326;21245963;21258428;21298020;21302279;21377153;21439861;21454516;21514161;21653755;21658434;21742971;21832049;21906983;21917092;2234093;22395988;22425981;22438584;22445895;22570239;22581387;22641668;22747683;22825057;22967896;2325643;23263765;23285165;23333304;23430747;23594797;23624749;23625463;23844004;23851501;23885463;23975434;24092824;24196392;24463227;2466334;3413110;7698025;7749138;9410906 374 D6RFX5;P15514 ABBA01022994;AC021180;AC149643;AK023449;AMYH02009483;AW014754;AY442340;BC009799;BC146953;BC146967;BT019866;CH471057;HY047499;M30698;M30699;M30700;M30701;M30702;M30703;M30704;NM_001657 AAA51773;AAA51781;AAH09799;AAI46954;AAI46968;AAR05438;AAV38669;ABM83816;ABM87136;EAX05710;NP_001648;P15514 Hs.270833;Hs.645475 1670005;1742203;2144341;2165455;2174153 D4S3138;GDB:193666;SHGC-50815;SHGC-59491;SHGC-59548 AR;CRDGF;MGC13647;SDGF AREGB;OTTHUMP00000160473;OTTHUMP00000219184;amphiregulin B;colorectum cell-derived growth factor;schwannoma-derived growth factor APPROVED protein-coding ENSG00000109321 HGNC:651 00093 104640 REVIEWED 5130823 ARF1P2 ADP-ribosylation factor 1 pseudogene 2 12 12 12 120916794 120917329 - 121282915 121283450 - 120845112 120845647 - 100420012 ABBA01020139;AC069214;AMYH02027385;NG_024047 2116297;2165705 D12S2073;D4S2372 pseudo HGNC:39883 INFERRED 1347923 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2008] 5 5 5 q31.3 137109696 137138526 - 141032968 141061800 - 141653401 141682233 - 1580863;6480464;6484113;6907045;8554872 11804589;12015138;12477932;12832619;14702039;15090612;15546919;15569923;17314030;19786092;21076469;21139048;21963094;21987572;22750419;23180820;23239578 64411 G5E9Y3;Q05CH1;Q8WWN8;Q9H7C1 ABBA01026404;ABBA01026405;AC022420;AJ310567;AK001579;AK024718;AK091385;AK290052;AK295768;AMYH02012347;BC009968;BC025757;BC027880;BX489939;CH471062;NM_022481;XM_005268497;XM_005268498;XM_005268499;XM_005268500;XM_006714791;XM_006714792;XM_006714793 AAH09968;AAH25757;AAH27880;BAB14973;BAF82741;BAG50942;BAG58593;CAC83946;EAW61904;EAW61905;EAW61906;EAW61907;NP_071926;Q8WWN8;XP_005268554;XP_005268555;XP_005268556;XP_005268557;XP_006714854;XP_006714855;XP_006714856 Hs.726187 1340382;1656696;1656698;1675072;1854122;2218998 A004M29;AF022188;AF052687;ARAP3__4349;D5S2010;WI-11093 CENTD3;DRAG1;FLJ21065;cnt-d3 ARF-GAP, RHO-GAP, ankyrin repeat and plekstrin homology domains-containing protein 3;Arf and Rho GAP adapter protein 3;OTTHUMP00000160010;OTTHUMP00000224030;OTTHUMP00000224031;PtdIns(3,4,5)P3-binding protein;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3;centaurin, delta 3;centaurin-delta-3;phosphoinositide binding protein APPROVED protein-coding ENSG00000120318 HGNC:24097 09441 606647 REVIEWED 2299190 AREGB amphiregulin B ENCODES a protein that exhibits cytokine activity (inferred); epidermal growth factor receptor binding (inferred); growth factor activity (inferred); INVOLVED IN epidermal growth factor receptor signaling pathway; G-protein coupled receptor signaling pathway; positive regulation of DNA replication; PARTICIPATES IN epidermal growth factor/neuregulin signaling pathway; FOUND IN cell surface; extracellular space 4 q13.3 75480627 75490485 + 6480464;6484113 12743035;19740107;22747683;2466334 727738 AC149643;XM_001125684 P15514;XP_001125684 1670005;1742203;2144341;2165455;2174153 D4S3138;GDB:193666;SHGC-50815;SHGC-59491;SHGC-59548 OTTHUMP00000219196 protein-coding ENSG00000205595 HGNC:34509 1345639 ARF2 ADP-ribosylation factor 2 376 HGNC:653 1353880 ARF1 ADP-ribosylation factor 1 ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42 201460593 201477145 + 228270361 228286913 + 228082660 228099212 + 6480464;6484113;6907045 10022920;10102276;10198630;10212218;10318838;10402461;10589680;10623590;10720466;10747089;10747863;10749932;10801846;10828067;10858454;10921873;11031247;11076863;11252894;11278939;11297540;11301005;11373276;11694590;11703931;11707398;11726511;11914273;11926829;12477932;12509462;12519790;12636914;12799371;14636574;14654833;14654841;14665636;14676827;14690595;15107860;15143060;15202998;15308674;15336557;15489334;15489336;15581351;15680326;15684379;1577740;15781476;15793564;15814706;15876864;15944734;16169070;16196087;16223492;16308272;16341674;16381901;16545942;16669702;16710414;1680566;16912072;16956762;17112341;17347647;17451557;17555535;17693410;17981261;18187620;18439901;18551169;18597672;18689681;18693248;18781797;18990689;1899243;19141284;19149577;19199708;19359423;19596022;19738201;20089835;20164217;20214751;20228810;20360068;20457610;20529868;20861011;20881058;2105501;21068255;21139048;21319273;21454700;21478909;21789191;21844371;21853274;21890473;21893600;21906983;21917951;21963094;21988832;22025613;22053931;22158626;22268729;22291037;22304920;22348287;22359663;22573888;22573891;22623428;22678362;22761998;22797925;22907437;22939629;22952844;22962618;22971977;23000965;23255605;23415225;23707487;23783033;23804711;24196838;24250222;24407288;2474826;25015289;7552752;7898460;7990146;7990966;8288610;8529647;8533093;8599108;8619474;8661066;8861955;9038142;9110174;9197239;9417041;9653114;9688545;9733781;9756891;9819391 375 P84077 ABBA01005829;ABBA01005830;AF052179;AF055002;AF493881;AK000620;AK057838;AK057875;AK130737;AK293553;AK296020;AK297792;AL136379;AMYH02002837;BC009247;BC010415;BC010429;BC011358;BF337061;BG421840;BM353046;BM844480;BQ935470;BQ949763;BT007393;CH471098;M36340;M84326;M84327;M84332;NM_001024226;NM_001024227;NM_001024228;NM_001658 AAA35511;AAA35512;AAA35552;AAC09356;AAC28623;AAH09247;AAH10429;AAH11358;AAM12595;AAP36057;BAG57030;BAG58790;BAG60132;CAL38139;CAL38339;CAL38472;CAL38588;EAW69831;EAW69832;EAW69833;EAW69834;EAW69835;EAW69836;NP_001019397;NP_001019398;NP_001019399;NP_001649;P84077 Hs.286221 1660877;1677110;1677112;1686678;1795382 ARF1_1579;D1S3252;RH64921;RH79647;RH80951 OTTHUMP00000035715 APPROVED protein-coding ENSG00000143761 HGNC:652 00054 103180 REVIEWED 1354397 ARF3 ADP-ribosylation factor 3 ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. [provided by RefSeq, Jul 2008] 12 12 12 q13 48124473 48145734 - 49329987 49351309 - 48931264 48957526 - 6480464;8554872 10413101;10506747;10623590;10749927;10828067;11124697;12090300;12135740;12221117;12477932;1447192;14690499;15489334;1577740;16396496;16713569;1744102;18781797;19135240;19322201;19913121;20357002;20360068;20628086;2105501;21139048;21890473;21906983;21963094;22053931;22505724;22586326;22623428;22678362;22939629;22971977;23000965;23464991;23783033;2474826;8355790;8473323;8491770;8661066;8947846;9038142 377 B7ZB63;F5H0C7;F5H1V1;F5H423;F5H6T5;P61204 ABBA01031494;ABBA01031495;AC073610;AF493882;AK291633;AK303726;AK316528;AMYH02026429;BC007647;BC007762;BC017565;BC028402;BM966960;BT006670;CH471111;M74491;M74492;M74493;NM_001659;XM_005268856;XM_006719391 AAA58359;AAB59425;AAH07647;AAH07762;AAH17565;AAH28402;AAM12596;AAP35316;ACE87829;ACT64578;BAF84322;BAG64702;BAH14899;EAW58025;EAW58026;EAW58027;NP_001650;P61204;XP_005268913;XP_006719454 Hs.119177 1645937;1795384;1797294;2118763;2177219;2178572;2182576 ARF3_53;ARF3_53.2;G10609;RH46941;SGC30712;STS-M79003;WI-7107 OTTHUMP00000165241;OTTHUMP00000237838;OTTHUMP00000237839;OTTHUMP00000237840;small GTP binding protein APPROVED protein-coding ENSG00000134287 HGNC:654 00056 103190 REVIEWED 5130838 ARF1P3 ADP-ribosylation factor 1 pseudogene 3 8 8 8 q24.13 121352276 121352788 + 125164165 125164677 + 124151924 124152436 + 442396 ABBA01037890;AC090192;AC090921;AC100871;AMYH02018712;NG_022434 1703516;1749877 SHGC-111604;SHGC-82647 pseudo HGNC:39884 INFERRED 1316884 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN negative regulation of apoptotic process; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; INTERACTS WITH benzene-1,2,4-triol; paracetamol; pentachlorophenol (ortholog) 14 14 14 q24.3 55166339 55218171 - 75127955 75179807 - 74661252 74713115 - 1580863;6480464;8554872 12477932;12508121;15489334;20379614;21139048;22939624;23479728;9205841 9870 G3V245;G3V2B5;G3V506;G3V5P7;H0YJ67;H0YJ69;H0YJF1;H0YJK5;O15033 AB002315;ABBA01030714;AC007956;AK296912;AK304217;AMYH02029521;AMYH02029522;BC032944;BI459956;BX248747;CH471061;KF455947;KF455950;NM_001039479;XM_005268244;XM_006720344 AAF61276;AAH32944;BAA20775;BAG59467;BAG65089;CAD66554;EAW81186;NP_001034568;O15033;XP_005268301;XP_006720407 Hs.497417 1649547;1677032;1679906;1682966;2180775 D14S1302;RH80624;RH91392;RH91897;WI-11347 KIAA0317 OTTHUMP00000205819;OTTHUMP00000246138;apoptosis-resistant E3 ubiquitin protein ligase 1;hypothetical protein LOC9870 APPROVED protein-coding ENSG00000119682 HGNC:20363 13794 615380 VALIDATED 1606063 ARF1P1 ADP-ribosylation factor 1 pseudogene 1 INTERACTS WITH isotretinoin 7 7 7 q21.3 89161313 89163790 + 94463139 94465616 + 94833827 94836304 + 6480464 442334 ABBA01045781;AL157375;AMYH02016286;CH236949;NG_005537 ARF1 pseudo HGNC:22500 INFERRED 1602801 ARF4P3 ADP-ribosylation factor 4 pseudogene 3 13 13 13 q32.3 82251832 82253602 - 101407646 101409416 - 100755392 100757162 - 390423 ABBA01027085;AL356732;AMYH02028612;CH471085;NG_008359 EAX09044 1658200 D3S3904 pseudo HGNC:32380 INFERRED 1352328 ARF4 ADP-ribosylation factor 4 This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p21.2-p21.1 57570930 57583662 - 57557090 57583215 - 57571363 57597488 - 1580863;6480464 10099884;10524252;10593962;10828067;11481332;12446727;12477932;1447192;15049518;15231747;15489334;16344560;17314511;18781797;1899243;19041174;19167051;19322201;19615732;19946888;20360068;20881058;2105501;2107548;21139048;21145461;21319273;21853274;21890473;21906983;21963094;21988832;22004728;22105072;22185782;22268729;22304920;22952844;23125841;23464991;23783033;24163370;24185178;24250222;24337577;24561123;7956370;8355790;8491770;9180902 378 C9J6P1;C9JAK5;C9JPM4;F8WDB3;P18085;U3KQF2 ABBA01024413;ABBA01024414;AC092418;AC114480;AF104238;AF493883;AK313008;AMYH02006872;BC003364;BC008753;BC016325;BC022866;CH471055;DA259855;M36341;NM_001660;U91920;U91921 AAA53081;AAD54674;AAH03364;AAH08753;AAH16325;AAH22866;AAM12597;ABM85008;ABW03653;BAG35844;EAW65344;NP_001651;P18085 Hs.652183 1658200;1740229;1740235;1788756;1795386;2112606;2135882;2151080;7186210 ARF4_55;D3S1623;D3S1637;D3S3904;D3S4365;HUMD2F08NC;RH129652;RH69960 ARF2 ADP-ribosylation factor 2;OTTHUMP00000213140;OTTHUMP00000213142;OTTHUMP00000213211 APPROVED protein-coding ENSG00000168374 HGNC:655 03107 601177 REVIEWED 1348063 ARF4P1 ADP-ribosylation factor 4 pseudogene 1 9 9 9 q34 107491974 107493090 + 136943753 136944869 + 134078631 134079747 + 2107548 380 ABBA01021992;AC000387;AL591386;AMYH02021846;M31889;NG_001075 ARF4P APPROVED pseudo HGNC:657 INFERRED 2792834 ARF4P5 ADP-ribosylation factor 4 pseudogene 5 1 1 1 p31.1 82289299 82290194 + 84038401 84039296 + 83572718 83573613 + 100316867 ABBA01045664;AC098654;AMYH02001371;NG_016179 pseudo HGNC:37629 INFERRED 732462 ARF5 ADP-ribosylation factor 5 This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010] 7 7 7 q31.3 122032245 122035480 + 127228406 127231759 + 127588352 127591705 + 6480464;6484113 10022920;10589680;10593962;10749932;10828067;11478794;11535061;11926829;12477932;12690205;1447192;15146197;15489334;16148947;16396496;17030804;17567994;18685082;19322201;1993656;2105501;21139048;21853274;21890473;21906983;21963094;22105072;22185782;22360420;22573888;22623428;22815487;23125841;23464991;23532257;24816145;8355790;8491770;9038142;9169151 381 A4D0Z3;C9J1Z8;P84085 ABBA01057684;AC000357;AF493884;AK297026;AK307297;AK308548;AK312107;AMYH02016707;BC003043;BC033104;BT007087;CH236947;CH471070;CN259625;M57567;NM_001662;U73002 AAA90927;AAC51299;AAH03043;AAH33104;AAM12598;AAP35750;BAG35043;BAG59555;EAL24320;EAW83630;EAW83631;NP_001653;P84085 Hs.653202 1661510;1801082;1814786;1816142;1822734;1824976;1825998;1831878;2088786;2088788;2088790;2088792;2088794;2088796;2088798;2088800;2088802;2088804;2088806;2088808;2088810;2088812;2088814;2088816;2088818;2088820;2088822;2088824;2088826;2088828;2088830;2088832;2118210;2122371;2196926;2196928;2196930;5095122;5491615 ARF5;D7S2378;D7S2779;ECD01410;ECD08424;ECD09111;ECD12455;ECD13587;ECD14108;ECD17077;MARC_26030-26031:1032381284:1;REN115652;REN115653;REN115654;REN115655;REN115656;REN115657;REN115658;REN115659;REN115660;REN115661;REN115662;REN115663;REN115664;REN115665;REN115666;REN115667;REN115668;REN115669;REN115670;REN115671;REN115672;REN115673;REN115674;REN115675;RH69260;stSG613722;stSG613724;stSG613725 OTTHUMP00000024864;OTTHUMP00000196795 APPROVED protein-coding ENSG00000004059 HGNC:658 00055 103188 REVIEWED 2798791 ARF4P4 ADP-ribosylation factor 4 pseudogene 4 13 13 13 q31.1 62357503 62364825 + 81455698 81463020 + 80881563 80888885 + 100129023 ABBA01021709;AL590807;AMYH02028357;NG_016164 pseudo HGNC:37628 INFERRED 1351076 ARF4P2 ADP-ribosylation factor 4 pseudogene 2 20 20 20 q13.33 58179363 58180664 - 61503331 61504632 - 62871979 62873280 - 170485 ABBA01021375;AL035669;AMYH02037442;NG_001031 dJ885L7.7 pseudo HGNC:16599 INFERRED 1352175 ARFGAP1 ADP-ribosylation factor GTPase activating protein 1 The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 q13.33 58581641 58598618 + 61904137 61921145 + 63272785 63289793 + 1580863;6480464;6484113;6907045 10704287;11031247;11210549;11703931;11780052;12181329;12379802;12477932;14702039;15246431;15302935;15489334;15790807;16169070;16316994;16571680;16956762;16964243;17207965;18029348;18541532;19015319;19055691;19299515;19338310;21139048;21499258;21832049;21900206;21906983;21963094;21988832;22363216;22423108;22863883;24623438;24816145;7969419;8125298;8533093;9405360;9476900;9733781 55738 E5RGL6;E5RHC5;E5RHH7;E5RHT6;E5RIU2;F8VWB3;F8VWH9;F8W1U7;H0YIQ0;Q53F62;Q8N6T3 AA565406;AB015340;ABBA01021393;AK001629;AK027268;AK027441;AK095048;AK123367;AK223427;AK296351;AK303454;AK308161;AL121827;AL137744;AMYH02037452;AMYH02037453;AY927573;BC000786;BC006085;BC011876;BC028233;BC127893;BQ717837;CH471077;DC300118;DC404137;NM_001281482;NM_001281483;NM_001281484;NM_018209;NM_175609;NR_104022;NR_104023;XM_006723823;XM_006723824;XR_430304 AAH00786;AAH06085;AAH11876;AAH28233;ADQ31806;BAA88117;BAA91796;BAB55009;BAB55113;BAD97147;BAH12326;BAH13964;CAB70901;EAW75290;EAW75291;EAW75292;EAW75293;EAW75294;EAW75295;EAW75296;NP_001268411;NP_001268412;NP_001268413;NP_060679;NP_783202;Q8N6T3;XP_006723886;XP_006723887 Hs.25584 2219000 ARFGAP1__4350 ARF1GAP;HRIHFB2281;MGC39924 ADP-ribosylation factor 1 GTPase activating protein;ADP-ribosylation factor 1 GTPase-activating protein;ADP-ribosylation factor GTPase-activating protein 1;ARF GAP 1;ARF1 GAP;ARF1-directed GTPase-activating protein;GAP protein;OTTHUMP00000031551;OTTHUMP00000196668;OTTHUMP00000196669;OTTHUMP00000226307;OTTHUMP00000226309;OTTHUMP00000226310;OTTHUMP00000243517 APPROVED protein-coding ENSG00000101199 HGNC:15852 06443 608377 REVIEWED 734181 ARF6 ADP-ribosylation factor 6 This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq, Jul 2008] 14 14 14 q21.3 30226871 30230907 + 50359736 50363772 + 49893018 49897054 + 6480464;6484113;6907045 10022920;10036235;10343114;10480924;10589680;10749932;10913182;11042152;11266366;11278939;11478794;11533043;11535061;11867621;11926829;12016212;12032069;12379803;12477932;12509462;12526811;12799371;12847086;12860984;12902467;14607973;14617802;14625293;14659046;14662749;14675422;14978216;15087504;15210957;15231847;15465916;15489334;15509780;15590645;15638726;15802264;15817676;15897187;16099990;16148947;16213822;16341674;16344560;16415858;16461286;16484220;16527809;16545942;16650966;16669702;16737952;17030804;17077126;17122362;17157409;17353931;17398095;17461797;17560945;17623778;17628206;17640372;17643375;17719203;17846866;18000860;18084281;18094045;18199687;18326492;18511905;18597672;18685082;18814847;19033387;19149577;19155310;19211056;19264606;19276089;19327867;19359423;19365558;19642173;19644450;19666113;19738201;19855388;1993656;19946888;19948740;20018626;20029029;20089652;20385769;20462959;20510928;20525696;20601426;20622010;20709080;20713492;20727515;20848231;20945365;2105501;21139048;21148312;21346189;21438025;21439824;21634118;21790911;21795701;21832049;21853274;21858086;21890473;21906983;21917951;21963094;22053287;22085542;22170068;22188517;22219378;22226746;22522702;22523074;22558309;22580824;22659138;22666423;22701712;22781129;22907437;22916275;22931251;22962618;23000965;23095975;23125841;23264734;23295182;23383273;23462101;23555901;23603394;23752192;23950892;24085844;24139303;24250222;24392021;24407288;24526684;24637612;24797263;24835390;24902879;7589240;7855600;7898460;7990966;8355790;8491770;8702973;9312003;9417041;9461590;9653160 382 P62330 ABBA01018124;AF047432;AF493885;AK313790;AL117621;AL121163;AL627171;AMYH02029158;AY296206;BC002952;BC008918;BC030291;BM838197;BT019868;CH471078;CR541939;CR541964;DA217686;M57763;NM_001663 AAA90928;AAC39877;AAH08918;AAM12599;AAP50257;AAV38671;BAG36527;CAG46737;CAG46762;EAW65740;NP_001654;P62330 Hs.525330;Hs.719973 1738943;1769645;1795388;2152210;2182960;5124381 ARF6_719;D14S793;RH80260;SHGC-2638;SHGC-64115;SHGC-64342 DKFZp564M0264 OTTHUMP00000178980 APPROVED protein-coding ENSG00000165527 HGNC:659 02714 600464 REVIEWED 736641 ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 44242891 44357843 + 47538250 47653230 + 48921713 49036693 + 1300288;1580863;6480464;7240710;8554872;8699517 14647276 10212200;10716990;11013081;11665623;11777925;11780052;12051703;12477932;12571360;12606707;14702039;15198677;15231748;15302935;15385626;15705715;16320251;16477018;16866877;17081983;17276987;17360629;18003980;18203920;18417613;18625701;18832381;19384555;20360857;21139048;21309479;21789191;21890473;22190034;22623531;22863883;22908276;23383273;23386609;23755938;23812912;23918382;24489884;24816145 10564 Q59FR3;Q86TH5;Q9Y6D5 AB209397;ABBA01052729;ABBA01052730;AF084521;AK022623;AK074303;AK302526;AL049537;AL121903;AMYH02037199;AMYH02037200;AMYH02037201;BC050449;BC144625;BC144626;CH471077;KF456932;NG_011490;NM_006420;XM_005260252;XM_006723683 AAD38428;AAH50449;BAD92634;BAG51099;BAG63799;EAW75680;EAW75681;NP_006411;Q9Y6D5;XP_005260309;XP_006723746 Hs.62578 1645537;1655985;1660323;1671139;2148054;2177431;2184527;5022200;5022578 AL030970;AL031485;D1S1423;G18085;L18426;SHGC-52869;SHGC-64065;STS-R64296;WI-17563 BIG2;FLJ23723;PVNH2;dJ1164I10.1 OTTHUMP00000031231;brefeldin A-inhibited GEP 2;brefeldin A-inhibited guanine nucleotide-exchange protein 2 APPROVED protein-coding ENSG00000124198 HGNC:15853 09250 605371;608097 REVIEWED 1344539 ARFGAP3 ADP-ribosylation factor GTPase activating protein 3 The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008] 22 22 22 q13.2 27103053 27163910 - 43192530 43253408 - 42796524 42857402 - 1580863;6480464;6907045 10591208;10704287;11172815;12477932;12529303;14702039;15461802;15489334;15761153;17081983;17760859;18029348;19015319;19299515;19946888;20379614;21139048;21647875;21832049;21890473;21988832;23000965;24076238;24250222;24816145;8076819 26286 B0QYV8;B0QYV9;H0Y6A0;Q9NP61 ABBA01017923;ABBA01017924;AF111847;AK002083;AK022768;AK127525;AK297635;AK300531;AK307967;AK315720;AL049757;AL049758;AL137598;AL159143;AMYH02038469;BC005122;BC041383;BI547713;BQ019944;CA431867;CH471138;CR456382;DB458974;NM_001142293;NM_014570;XM_005261525 AAF40310;AAH05122;ABM83933;ABM87252;BAA92076;BAB14236;BAH12636;BAH13298;CAB70834;CAB76901;CAG30268;CAK54371;CAK54670;EAW73275;EAW73276;NP_001135765;NP_055385;Q9NP61;XP_005261582 Hs.685225 1657911;1687518;2142428;2142832;2219002;5019643;5022322;5022651;5037552;5109281 A006B18;ARFGAP3__4351;D11S2560;D11S2921;D1S1425;D8S2279;G06276;G29271;G32316;RH91173 ARFGAP1;FLJ45618 ADP-ribosylation factor GTPase activating protein 1;ADP-ribosylation factor GTPase-activating protein 3;ARF GAP 3;OTTHUMP00000198439;OTTHUMP00000221483 APPROVED protein-coding ENSG00000242247 HGNC:661 06444 612439 REVIEWED 732355 ARFRP1 ADP-ribosylation factor related protein 1 The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012] 20 20 20 q13.3 59014256 59023609 - 62329995 62339365 - 63698642 63708013 - 727256;1580863;6480464;8554872 8530503 10092663;10655513;11438518;11780052;12477932;14702039;15077113;15489334;15761153;16129887;17127620;19224922;22505585;23535732;23864651 10139 B7ZKY8;Q13795;V9GYH4 ABBA01021416;AF217796;AK095962;AL121845;AL522492;AL533893;AL833084;AMYH02037467;AMYH02037468;AW139294;BC021023;BC092480;BC093967;BC143447;BC143448;BC143467;BC143472;BC143477;BI524032;BI711667;BI819763;BM546222;BM549361;BP384879;BT019624;BT019663;BU526941;BX342690;BX342805;BX463457;CA489361;CH471077;CR456752;KF511326;NM_001134758;NM_001267544;NM_001267545;NM_001267546;NM_001267547;NM_001267548;NM_001267549;NM_003224;NR_051954;NR_051955;NR_051956;NR_051957;NR_051958;X91504 AAF35246;AAH92480;AAH93967;AAI43448;AAI43449;AAI43468;AAV38430;AAV38469;BAG53176;CAA62804;CAG33033;EAW75230;EAW75231;EAW75232;EAW75233;EAW75234;EAW75235;EAW75236;EAW75237;NP_001128230;NP_001254473;NP_001254474;NP_001254475;NP_001254476;NP_001254477;NP_001254478;NP_003215;Q13795 Hs.389277 2108587;2144442 SHGC-64071;TNFRSF6B_2708 ARL18;ARP;Arp1 ADP-ribosylation factor-related protein 1;ARF-related protein 1;OTTHUMP00000031584;SCG10 like-protein;helicase-like protein NHL APPROVED protein-coding ENSG00000101246 HGNC:662 05264 604699 REVIEWED 1349532 ARFIP2 ADP-ribosylation factor interacting protein 2 ENCODES a protein that exhibits GTP-dependent protein binding; phosphatidylinositol-4-phosphate binding; INVOLVED IN actin cytoskeleton organization; PARTICIPATES IN Arf family mediated signaling pathway; FOUND IN cell cortex; ruffle; trans-Golgi network membrane; INTERACTS WITH cyclosporin A; elemental selenium; hydroquinone O-beta-D-glucopyranoside 11 11 11 p15 6615970 6621655 - 6495913 6502709 - 6474683 6481479 - 1580863;6480464;6484113 11346801;11478794;11792819;11854752;12477932;12972563;15489334;15809304;16189514;16344560;21139048;21832049;21988832;22558309;22679020;22863883;23638170;23695357;8670882;9038142;9312003 23647 B4DUZ3;B4DXH2;E9PPY7;E9PRV8;P53365 ABBA01028669;AC084337;AK026390;AK300855;AK301856;AK301972;AK304512;AK309198;AK310267;AK310833;AK311004;AK311086;AK311655;AMYH02024270;AW612115;BC000392;BG745048;BM928413;BU627585;CH471064;DB099222;NM_001242854;NM_001242855;NM_001242856;NM_012402;U52522;X97567;XM_005252840 AAA97924;AAH00392;ABM82893;ABM86082;BAG62505;BAG63298;BAG63384;BAG65318;CAA66179;EAW68707;EAW68708;NP_001229783;NP_001229784;NP_001229785;NP_036534;P53365;XP_005252897 Hs.732203;Hs.75139 1667454;1699180;2114624;2126269;2152826;5022200;5022651 D11S2921;IB2126;L18426;RH103170;RH11646;STS-Z40796;WI-22461 FLJ18046;FLJ18697;FLJ99239;POR1 ADP-ribosylation factor-interacting protein 2;OTTHUMP00000164590;OTTHUMP00000231513;arfaptin 2;arfaptin-2;partner of RAC1 (arfaptin 2) protein-coding ENSG00000132254 HGNC:17160 07209 601638 VALIDATED 732329 ARG2 arginase 2 Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008] 14 14 14 q24.1 48145655 48177498 + 68086579 68118437 + 67619862 67651720 + 734607;1580863;1300048;1626297;1626296;1626298;4143269;631989;4143187;4144054;4142834;4143274;4144088;4143282;4110828;5129207;5129205;4143278;6480464;6902923;6907045 11931836;12371970;12813022;12841630;16387594;16809898;17223136;18475148;18552509;19764983;20039818;20124949;20699748;21926276;9635249;9686347;9688940 11370664;11849441;12477932;12859189;15364894;15489334;15955070;16128822;16675494;16720041;17353439;18202758;18348861;18528866;19281908;19284655;19508396;19636440;19684035;19789190;19801451;20071203;20107769;20542107;20711410;20853600;20861464;20877624;21039601;21130456;21139048;22008221;22157935;22391327;22447968;22712848;22815199;23122700;23260169;23424623;23740519;23832324;23950140;24223914;24442486;24833798;24879052;8898077;8954792;9144563;9256072 384 P78540 ABBA01023707;AK312484;AL049779;AL132640;AL135439;AMYH02029401;AMYH02029402;AMYH02029403;AY074489;BC001350;BC008464;BC029050;CH471061;CR536550;D86724;HI574250;NG_011964;NM_001172;U75667;U82256 AAB39855;AAC51664;AAH01350;AAH08464;AAH29050;AAL71548;BAA13158;BAG35387;CAG38787;CBX47614;EAW80943;EAW80944;NP_001163;P78540 Hs.226007 1651497;1660435;1661399;1736444;1736472;1754183;1777644;1851799;2115946;2133381;2149917 A007B39;D14S1294;D14S707E;D14S721E;G35422;G36051;RH44731;RH68231;SHGC-132208;WI-18578;WI-19297 L-arginine amidinohydrolase;L-arginine ureahydrolase;OTTHUMP00000246880;arginase, type II;arginase-2, mitochondrial;kidney arginase;kidney-type arginase;non-hepatic arginase;nonhepatic arginase;type II arginase APPROVED protein-coding ENSG00000081181 HGNC:664 00143 107830 REVIEWED 732747 ARFIP1 ADP-ribosylation factor interacting protein 1 ENCODES a protein that exhibits phosphatidylinositol-4-phosphate binding; INVOLVED IN intracellular protein transport; regulation of protein secretion; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; Golgi membrane; trans-Golgi network membrane; INTERACTS WITH 1-nitropyrene; arsenous acid; benzo[a]pyrene diol epoxide I 4 4 4 q31.3 151025104 151157752 + 153701091 153833064 + 152779937 152911912 + 1580863;6480464;8554872 10413101;11337467;12477932;12606037;14702039;15146197;15489334;16344560;16396496;16712791;21110914;21890473;21906983;22118674;22863883;23000965;23695357;9038142;9694811 27236 B4DS69;B4E273;P53367;Q8N8M9 ABBA01070127;ABBA01070128;AC099339;AC106882;AC113155;AF124489;AI634366;AK096509;AK290472;AK299600;AK304141;AK316125;AMYH02010313;AMYH02010314;AU099007;AU139844;BC103759;BC105114;BC105116;BC143675;BC143676;CB127228;CH471056;CN305403;DA452239;DC346238;NM_001025593;NM_001025595;NM_001287431;NM_001287432;NM_001287433;NM_014447;U52521 AAA97923;AAD29390;AAI03760;AAI05115;AAI05117;AAI43676;AAI43677;BAC04806;BAF83161;BAG61531;BAG65035;BAH14496;EAX04968;EAX04969;EAX04970;EAX04971;EAX04972;NP_001020764;NP_001020766;NP_001274360;NP_001274361;NP_001274362;NP_055262;P53367 Hs.416089 1339232;1686104;1687285;1848936;7186915 D4S1058;D4S1588;RH98783;SHGC-67318 HSU52521;MGC117369 ADP-ribosylation factor-interacting protein 1;OTTHUMP00000220280;OTTHUMP00000220282;OTTHUMP00000220283;arfaptin 1;arfaptin-1 protein-coding ENSG00000164144 HGNC:21496 09331 605928 VALIDATED 1314646 ARFGAP2 ADP-ribosylation factor GTPase activating protein 2 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); protein transport (inferred); regulation of ARF GTPase activity (inferred); PARTICIPATES IN endocytosis pathway; FOUND IN cytoplasm; Golgi apparatus; nucleolus; INTERACTS WITH 2-methylcholine; atrazine; benzene 11 11 11 p11.2-p11.12 47325090 47337647 - 47185849 47199054 - 47164298 47177503 - 1580863;6480464;6907045 11278321;12477932;12880961;14690497;14702039;15489334;16341674;16903783;17760859;18029348;19015319;19299515;20858901;21139048;21182205;21890473;22375848;23383273;24816145 84364 E9PIY6;E9PJT7;E9PK28;E9PM18;E9PM63;E9PMR9;E9PMU9;E9PN48;E9PNY8;E9PQP3;G5E9L0;H0YCA3;H0YCL1;H0YDN9;H0YDX1;H0YF45;Q8N6H7 AB073358;ABBA01060721;AC090589;AK027482;AK098324;AK129511;AK300347;AK301785;AK304541;AK315992;AL834337;AMYH02024723;AMYH02024724;AMYH02024725;BC030148;BC036823;BM827445;CD366084;CH471064;NM_001242832;NM_032389;XM_005253166;XM_005253167;XM_005253168;XM_006718346 AAH30148;ACE86922;ACE87609;BAB55144;BAE45716;BAG53612;BAG63241;BAG65339;BAH13265;BAH14363;CAD39004;EAW67963;EAW67964;EAW67965;EAW67966;EAW67967;EAW67968;NP_001229761;NP_115765;Q8N6H7;XP_005253223;XP_005253224;XP_005253225;XP_006718409 Hs.436204 1650971;1679706;1686570;2134341;2161404;2191007;5114561;5491407 D11S3969;D11S4059;G09831;MARC_10267-10268:998918113:1;MARC_12871-12872:1000494470:1;RH10546;RH98304;T03584 FLJ14576;FLJ26000;IRZ;Nbla10535;ZNF289;Zfp289 ADP-ribosylation factor GTPase-activating protein 2;ARF GAP 2;GTPase-activating protein ZNF289;OTTHUMP00000234176;OTTHUMP00000234226;putative protein product of Nbla10535;zinc finger protein 289, ID1 regulated protein-coding ENSG00000149182 HGNC:13504 06069 606908 VALIDATED 1348298 ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011] 8 8 8 q13 64103297 64249319 - 68085746 68255912 - 67173511 67343687 - 1580863;6480464;8554872 10212200;10393931;10716990;11013081;12571360;12606707;14702039;14973189;15644318;16417406;16467138;17079330;17081983;17227842;17360629;18003980;18029348;18203920;18292223;18417613;18832381;19020088;19651892;20379614;20668708;20818722;21139048;21871176;21890473;22084092;22190034;23000965;23220274;23386609;23918382;23956138;24816145;8889548;8917509 10565 E5RHL7;E5RHZ1;E5RIF2;E5RJB2;E5RJN9;Q9Y6D6 AB209324;ABBA01041894;ABBA01041895;ABBA01041896;ABBA01041897;ABBA01041898;AC021321;AC087359;AF084520;AF111162;AI523655;AI692863;AI797683;AK001788;AK022557;AK025637;AK123660;AK127799;AL117446;AMYH02018126;AMYH02018127;AMYH02018128;AMYH02018129;AMYH02018130;AMYH02018131;AMYH02018132;AMYH02018133;AMYH02018134;BE048435;CA314908;CH471068;NM_006421;XM_005251134;XM_005251135;XM_005251136;XM_006716418 AAD38427;AAD43651;AAI72243;BAA91912;BAD92561;BAG51091;CAB55931;EAW86935;EAW86936;NP_006412;Q9Y6D6;XP_005251191;XP_005251192;XP_005251193;XP_006716481 Hs.656902 1657544;1667989;1683317;1689035;1722041;1724981;1735772;2108697;2128723;2154165;2171510;2187237;5092888 A009B39;ARFGEF1_9142;D8S1378E;G06218;G17212;G32393;G59907;L17871;RH118724;RH36443;RH91158;RH93991;WIAF-2084 ARFGEP1;BIG1;D730028O18Rik;DKFZP434L057;P200 ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited);OTTHUMP00000227052;OTTHUMP00000227095;brefeldin A-inhibited GEP 1;brefeldin A-inhibited guanine nucleotide-exchange protein 1;p200 ARF guanine nucleotide exchange factor;p200 ARF-GEP1 APPROVED protein-coding ENSG00000066777 HGNC:15772 09163 604141 REVIEWED 1353986 ARG1 arginase 1 Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 6 6 6 q23 132641003 132652108 + 131894344 131905472 + 131573204 131584332 + 1580863;1599208;1599211;2300098;4143185;4143230;4142795;4143187;631755;70249;4143282;4142796;634666;4144054;4144044;4142834;4142848;4143279;631989;1626298;4140476;4143368;1626296;5129205;5129207;6480464;6484113;6907045;7240710;8554872;8699517 11779202;11931836;12069499;12371970;12470967;12654563;12813022;15916970;16387594;16872590;17023552;17210712;17223136;17365572;17967788;18475148;18552509;19666777;20124949;20593143;20697209;4062872;7649538;9688940 10502833;10542097;11224628;11329013;11750286;11849441;12083807;12115381;12139964;12477932;14574404;1463019;14702039;15489334;1598908;15998894;16709958;16720041;17113085;17119118;17255300;17347269;17369504;17469833;17703412;17934065;18478052;18617639;18957279;19052914;19101531;19253371;19258923;19281908;19282757;19286931;19293328;19303401;19431148;19508396;19615732;19636440;19684035;19687346;19713467;19789190;19801451;19896478;19913121;19936428;20032293;20153713;20200399;20301338;20301396;20473875;20503287;20562859;20628086;20661013;20711410;20851928;20942574;21039601;21139048;21182205;21206033;21217072;21330347;21533769;21552555;21704615;21800051;21870783;21945700;21988832;22118674;22145905;22189190;22298472;2241902;22582175;22827286;22869115;22959135;23061982;23111165;23327293;23348905;23454751;23505904;2365823;23740519;23850196;23859858;24005081;24060156;24281232;24332808;24457600;24715304;2913054;3174433;3540966;3658675;3752085;9686347 383 P05089 ABBA01025891;AK128314;AL121575;AMYH02014494;AW236349;AY074488;BC005321;BC020653;BG217880;BG542163;BT006741;CH471051;M14502;NG_007086;NG_031860;NM_000045;NM_001244438;X12662 AAA51776;AAH05321;AAH20653;AAL71547;AAP35387;ABM82965;ABM86156;CAA31188;EAW48053;EAW48054;EAW48055;EAW48056;NP_000036;NP_001231367;P05089 Hs.440934 1668724;1674328;1742075;1742431;1852440;2140260 GDB:190876;GDB:196989;RH46810;SGC38314;SHGC-16174;STS-M14502 OTTHUMP00000017209;OTTHUMP00000017210;OTTHUMP00000017211;arginase, liver;arginase-1;liver-type arginase;type I arginase APPROVED protein-coding ENSG00000118520 HGNC:663 01947 207800;608313 REVIEWED 1605759 ARGFX arginine-fifty homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 119696469 119719151 + 121281269 121309469 + 121562422 121590622 + 6480464;8554872 17005330;20565723 503582 A6NJG6 ABBA01016481;AC069239;AMYH02007527;AMYH02007528;BX282631;NM_001012659;XM_005247505 A6NJG6;NP_001012677;XP_005247562 Hs.224976 5015404;5015619;5015861;5020946;5021228;5021872;5022578;5024413;5037552;5117897;5118444;5118800;5120437;7185938 D10S16;D11S3114;D11S3316;D11S3663;D1S1423;D8S2279;GDB:312794;GDB:315881;GDB:631813;L17705;L17877;L17971;sY3084 OTTHUMP00000215153 APPROVED protein-coding HGNC:30146 18525 611164 VALIDATED 1602609 ARGFXP2 arginine-fifty homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 27388246 27389460 - 30477376 30478590 - 32150357 32151571 - 17005330 503640 AA613199;ABBA01000704;AC116407;AMYH02033313;NR_002222 Hs.631752 APPROVED pseudo HGNC:23977 PROVISIONAL 1605758 ARGFXP1 arginine-fifty homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 5 5 5 q23.2 117966257 117971118 + 122011395 122016233 + 122675700 122680538 + 17005330 503583 ABBA01068951;AC093267;AMYH02012094;NG_004853 1644390 D5S2313 APPROVED pseudo HGNC:17252 INFERRED 1350534 ARHGAP11B Rho GTPase activating protein 11B ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); small GTPase mediated signal transduction (inferred); FOUND IN cytosol (inferred); INTERACTS WITH calcitriol; dimethyl sulfoxide; lucanthone 15 15 15 q13.2 9717343 9722650 + 30918879 30931013 + 30626676 30638810 + 6480464 11829490;12477932;23962720;8889549 89839 Q3KRB8 ABBA01038317;ABBA01038318;AC091057;AC243687;AK310319;BC071990;BC105788;NM_001039841 AAI05789;NP_001034930;Q3KRB8 Hs.659621 1653367;1688124;1699844;1716483;1765371;1847117;2143742;2161823;2162498;2163842 D3S3152;G17839;G17845;RH103529;RH121527;RH77819;RH78987;SHGC-148860;SHGC-37549;STS-N90222 B'-T;D-X;FAM7B1;MGC104367 GAP (1-8);family with sequence similarity 7, member B1;rho GTPase-activating protein 11B;rho-type GTPase-activating protein 11B protein-coding ENSG00000187951 HGNC:15782 PROVISIONAL 1605984 ARGLU1 arginine and glutamate rich 1 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN mitochondrion; nucleus; INTERACTS WITH (+)-catechin; (-)-demecolcine; (S)-nicotine 13 13 13 q33.3 88039892 88064742 - 107195662 107220514 - 106542130 106568166 - 6480464 12477932;14702039;15302935;17207965;17332742;18187620;19322201;20098747;21139048;21319273;21454576;21832049;22365833;23602568;24457600;24816145 55082 Q5T256;Q9NWB6;X6R9F1 AA445997;ABBA01027048;AI623424;AK001016;AL442127;AMYH02028665;AMYH02028666;BC030508;BC050434;BC071587;CH471085;CR936748;DB482545;NM_018011;XR_243043;XR_429268;XR_429269 AAH50434;AAH71587;ADQ33089;BAA91467;EAX09086;EAX09087;NP_060481;Q9NWB6 Hs.508644 1707586;1849599;5022578;5022588 D1S1423;D5S1597E;RH44738;SHGC-84605 DKFZp686O08106;FLJ10154;RP11-297I6.1 OTTHUMP00000018683;arginine and glutamate-rich protein 1 protein-coding HGNC:25482 07648 614046 VALIDATED 1602334 ARHGAP11A Rho GTPase activating protein 11A ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 15 15 15 q13.2 9717343 9733551 + 32906720 32931868 + 32613733 32614927 + 6480464;8554872 11829490;12477932;15489334;15778465;15782160;16565220;17207965;19471022;23000965;23251661;7584026;7584028 9824 H3BQ41;H3BR51;Q6P4F7 ABBA01038563;AC123768;AC243655;AK303025;AK316437;BC039563;BC050545;BC063444;CH471125;D87717;HG506843;NM_001286479;NM_001286480;NM_014783;NM_199357;XM_005254808;XM_006720788;XM_006725564;XM_006725565;XR_429508 AAH39563;AAH63444;ACT64423;ACT64424;ADQ31984;BAA13442;BAG64151;BAH14808;EAW92260;NP_001273408;NP_001273409;NP_055598;NP_955389;Q6P4F7;XP_005254865;XP_006720851;XP_006725627;XP_006725628 Hs.591130 1653367;1687003;2106431;2161823;2162498;2164846;2181650;5022651;5037552 ARHGAP11A__4355;D11S2921;D8S2279;RH17370;RH25252;RH78987;SHGC-35411;SHGC-37549;STS-N90222 GAP (1-12);KIAA0013;MGC70740 OTTHUMP00000159622;rho GTPase-activating protein 11A;rho-type GTPase-activating protein 11A protein-coding ENSG00000198826 HGNC:15783 10656 610589 VALIDATED 1314470 ARHGAP1 Rho GTPase activating protein 1 This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012] 11 11 11 p11.2 46846844 46870551 - 46698625 46722215 - 46677075 46700665 - 1580863;6480464 10551883;10555980;10684602;10799524;10843989;10954711;11311150;11523996;11741952;11927263;12477932;12501193;12901880;12944407;14697242;14702039;14718574;14724572;15169898;15262974;15282546;15489334;15588985;15596440;15652341;16189514;16331259;16380373;17222083;17611651;18029348;18060510;18331715;18579725;18619034;1903516;19056867;1905930;19066281;19103606;19302816;19801982;19911011;20660160;21051874;21139048;21169361;21890473;21906983;21988832;22504420;23000965;23175628;23200924;23667531;23684608;24086303;24654937;24797263;8253717;8288572;8805223;9009196;9034330;9262406;9268338;9338791;9407060;9427749;9535855;9548756;9599009;9799731;9846874 392 E9PNR6;H0YE29;Q07960 ABBA01060733;AC115088;AI640658;AK126404;AK298562;AK307296;AK310605;AMYH02024711;BC018118;CH471064;HY004921;NM_004308;U02570;U62794;Z23024 AAA16142;AAB66594;AAH18118;ABM85071;BAG60756;CAA80560;EAW67982;EAW67983;EAW67984;NP_004299;Q07960 Hs.138860 1651947;5024761;5037552 D8S2279;RH36905;RH79109 CDC42GAP;RHOGAP1;p50-RhoGAP;p50rhoGAP CDC42 GTPase-activating protein;GTPase-activating protein rhoGAP;GTPase-activating protein rhoOGAP;GTPase-activating protein, Rho, 1;OTTHUMP00000233485;OTTHUMP00000233486;RHOGAP;rho GTPase-activating protein 1;rho-related small GTPase protein activator;rho-type GTPase-activating protein 1 APPROVED protein-coding ENSG00000175220 HGNC:673 04108 602732 REVIEWED 1351374 ARHGAP16P Rho GTPase activating protein 16 pseudogene 14 14 14 q21.2 23924849 23925629 + 44064658 44065438 + 43595455 43596235 + 319102 ABBA01018029;AL358913;AMYH02029089;NG_002492 ARHGAP15P pseudo HGNC:19921 INFERRED 1322908 ARHGAP10 Rho GTPase activating protein 10 ENCODES a protein that exhibits Rho GTPase activator activity (inferred); INVOLVED IN apoptotic process (inferred); cytoskeleton organization (inferred); negative regulation of apoptotic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); intracellular (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; calcitriol 4 4 4 q31.23 145974548 146315244 + 148653214 148993927 + 147732063 148072778 + 737633;6480464;8554872 12477932 11432776;15161933;15471851;19911011;20031603;20158304;20332263;20379614;21906983;22610502;8288572 79658 A1A4S6;H0Y8W5 AB050785;ABBA01070059;ABBA01070060;ABBA01070061;ABBA01070062;ABBA01070063;AC093678;AC093835;AC115621;AC125241;AK024549;AK123034;AK123785;AK130998;AK304458;AL834360;AMYH02010276;AMYH02010277;AMYH02010278;AMYH02010279;AMYH02010280;BC011920;BC047914;BC106018;BC109029;BC109030;BC126899;BC128055;BX647727;CH471056;CR457328;NM_024605;XM_005263214;XM_005263215;XM_005263216;XM_005263217 A1A4S6;AAH11920;AAH47914;AAI06019;AAI09030;AAI09031;AAI26900;AAI28056;BAB14924;BAB61771;BAG53857;BAG65274;CAD39024;CAG33609;EAX05009;EAX05010;NP_078881;XP_005263271;XP_005263272;XP_005263273;XP_005263274 Hs.368631 1339556;1341617;1643602;1650373;1651685;1666511;1668280;1727695;1763447;1763449;1851390;2123986;2125463;2153594;2177763 D4S3014;D4S3031;D4S3218;G33906;G34307;G63261;RH48780;SHGC-147160;SHGC-147161;SHGC-25164;SHGC-57571;SHGC-59314;SHGC-8151;SHGC4-1567;STS-R60782 FLJ20896;FLJ41791;GRAF2;PS-GAP;PSGAP GTPase regulator associated with focal adhesion kinase 2;OTTHUMP00000220267;graf-related protein 2;rho GTPase-activating protein 10;rho-type GTPase-activating protein 10 protein-coding ENSG00000071205 HGNC:26099 07949 609746 VALIDATED 7243277 ARHGAP19-SLIT1 ARHGAP19-SLIT1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring Rho GTPase activating protein 19 (ARHGAP19) and slit homolog 1 (SLIT1) genes on chromosome 10. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 10 10 q 98912799 99052430 - 97153042 97292673 - 6480464 20967262 100533184 C9IZI4 AA431797;ABBA01021814;ABBA01021815;ABBA01021816;ABBA01021817;ABBA01021818;ABBA01021819;AL359385;AL512424;AMYH02023603;AMYH02023604;AMYH02023605;AMYH02023606;AY336750;NR_037909 AAR02412 Hs.80305 1683271 RH92281 ncrna HGNC:48348 VALIDATED 1351019 ARHGAP19 Rho GTPase activating protein 19 Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008] 10 10 10 q24.1 92723490 92790901 - 98981930 99052430 - 97222173 97292673 - 6480464 12477932;12693554;14702039;15164054;15489334;16344560;16385451;16713569;17454002;19322201;21139048;22939629;23503679;8619474;9110174 84986 Q14CB8;R4GMS4;R4GNI4 AA427792;ABBA01021814;ABBA01021815;ABBA01021816;ABBA01021817;ABBA01021818;AK074122;AK090447;AK093316;AK093441;AK303055;AL359385;AMYH02023603;AMYH02023604;AMYH02023605;AMYH02023606;BC007848;BC082250;BC103749;BC113888;BC114490;BI830638;BX648189;BX648194;CD743029;CH471066;CR749412;DB069205;DQ338460;NM_001204300;NM_001256423;NM_032900;U79256 AAI13889;AAI14491;ABC69298;BAB84948;BAC03428;BAC04130;BAC04165;BAG64173;CAH18254;EAW49952;EAW49953;EAW49954;EAW49955;NP_001191229;NP_001243352;NP_116289;Q14CB8 Hs.80305 1646108;1698392;2113088;2219004 ARHGAP19__4358;D10S2453;RH102738;STS-F10974 DKFZp313K217;MGC138804;MGC138805;MGC14258 OTTHUMP00000020188;OTTHUMP00000020189;putative RhoGAP protein;rho GTPase-activating protein 19;rho-type GTPase-activating protein 19 APPROVED protein-coding ENSG00000213390 HGNC:23724 12475 611587 VALIDATED 1348610 ARHGAP15 Rho GTPase activating protein 15 RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM, Mar 2008] 2 2 2 q22.2-q22.3 137599271 138238118 + 143886899 144525921 + 143129330 143768352 + 6480464;8554872 11042152;12477932;12650940;15342556;15459234;15761153;18482256;18541383;19197348;20379614;20468071;21297076;22505724;23455924;23760270;24816145;8125298 55843 B8ZZK0;H7BZM0;Q53QZ3 ABBA01028062;ABBA01028063;ABBA01028064;ABBA01028065;ABBA01028066;ABBA01028067;ABBA01028068;ABBA01028069;ABBA01028070;AC013437;AC079584;AC079793;AC092652;AC096558;AC098857;AC109639;AF212222;AF217507;AF217522;AK226014;AK303490;AK308219;AMYH02004913;AMYH02004914;AMYH02004915;AMYH02004916;AY219338;BC016701;BC038976;BP299206;CH471058;NM_018460;XM_005263714;XM_006712632 AAF67618;AAF67633;AAF87324;AAH16701;AAH38976;AAO34684;AAX82009;AAX93158;AAX93160;AAX93245;AAY14811;AAY24215;BAG64525;EAX11587;EAX11588;EAX11589;EAX11590;NP_060930;Q53QZ3;XP_005263771;XP_006712695 Hs.171011 1336624;1647184;1661231;1681145;1682447;1712975;1713533;1724035;1750501;1753591;1777094;1858235;1956008;2114820;2162961;2169742;2183522 D2S122;D2S1308;D2S1738;REN48866;RH119028;RH120252;RH120577;RH35973;RH79251;RH92102;RH93106;SHGC-107502;SHGC-111811;SHGC-23090;SHGC-23101;SHGC-64284;STS-AA040807 BM046 OTTHUMP00000162669;rho GTPase-activating protein 15;rho-type GTPase-activating protein 15 APPROVED protein-coding ENSG00000075884 HGNC:21030 06447 610578 VALIDATED 1312852 ARHGAP18 Rho GTPase activating protein 18 ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010] 6 6 6 q22.33 130644627 130777755 - 129897290 130031370 - 129576145 129710225 - 1580863;5686816;6480464;8554872 19065146 12477932;14574404;14702039;15231747;15489334;16712791;18987618;20664062;21865595;22808956;23648065;24144296;24347629 93663 Q8N392 AB053293;ABBA01025911;ABBA01025912;AI337078;AK002195;AK098594;AK307796;AL450310;AL834511;AMYH02014470;AMYH02014471;AY643712;BC017223;BC039611;BC052295;BC062417;BC073143;BC101708;BC107416;BC111940;BC143531;BM557223;CB149638;CH471051;NM_033515;XM_005267212;XM_005267213;Z97352 AAH17223;AAH39611;AAH62417;AAI01709;AAI07417;AAI11941;AAT64914;BAB61887;CAD39167;EAW48076;EAW48077;EAW48078;NP_277050;Q8N392;XP_005267269;XP_005267270 Hs.486458 1339019;1650246;1703596;1709616;1709770;1717969;1785824;2132339;2218244 ARHGAP18_4357;D6S1470;D6S1620;RH122811;SHGC-106102;SHGC-64754;SHGC-84700;SHGC-85169;STS-N22224 FLJ25728;MGC126757;MGC138145;bA307O14.2 MacGAP;OTTHUMP00000017190;SENEX;rho GTPase-activating protein 18;rho-type GTPase-activating protein 18 APPROVED protein-coding ENSG00000146376 HGNC:21035 12474 613351 VALIDATED 6480346 ARHGAP22-IT1 ARHGAP22 intronic transcript 1 (non-protein coding) q11.22 14702039 100689073 AK093071;CR737578 Hs.667964;Hs.738880 ncrna HGNC:42944 1320676 ARHGAP12 Rho GTPase activating protein 12 This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 10 10 10 p11.22 31860349 31982898 - 32094326 32217804 - 31805398 31928876 - 6480464;8554872 11854031;12297274;12477932;14702039;15144186;15345747;15489334;15492870;16344560;16385451;18504429;18984674;21706016;21906983;23602568;8619474;8889548;9110174 94134 H0Y5D8;Q1RLN5;Q8IWW6 ABBA01033395;ABBA01033396;AF131804;AK000744;AK001833;AK025438;AK091182;AK127611;AK315066;AL137485;AL390715;AL834250;AMYH02022576;AY033594;AY033595;BC051811;BC094719;BC115362;BC115363;BM693575;BX641115;CH471072;CR936681;DB062438;NM_001270695;NM_001270696;NM_001270697;NM_001270698;NM_001270699;NM_018287;XM_005252644;XM_006717540;XM_006717541 AAH51811;AAH94719;AAI15363;AAI15364;AAK52311;AAK52312;BAA91932;BAB15131;BAG52300;CAB70766;CAD38926;CAE46053;EAW85979;EAW85980;EAW85981;EAW85982;EAW85983;EAW85984;EAW85985;NP_001257624;NP_001257625;NP_001257626;NP_001257627;NP_001257628;NP_060757;Q8IWW6;XP_005252701;XP_006717603;XP_006717604 Hs.499264;Hs.741991 1648932;1685730;1695756;1850175;2123813;2218242 ARHGAP12_4356;D10S2484;RH27478;RH44894;SHGC-64280;SHGC-82680 DKFZp779N2050;FLJ10971;FLJ20737;FLJ21785;FLJ45709 OTTHUMP00000019407;OTTHUMP00000019409;OTTHUMP00000019410;rho GTPase-activating protein 12;rho-type GTPase-activating protein 12 APPROVED protein-coding ENSG00000165322 HGNC:16348 06446 610577 REVIEWED 1343283 ARHGAP17 Rho GTPase activating protein 17 RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004] 16 16 16 p12.1 23711720 23807687 - 24930710 25026695 - 24919384 25015601 - 633422;1580863;6480464 10967100 11181995;11285285;11431473;12477932;14702039;15489334;16678097;17620599;18654987;19531213;20379614;20936779;21832049;23182705;23383273;24816145 55114 C9IZD3;I3L1S9;I3L3P1;I3L460;I3L4P0;I3L4P6;I3L4Y5;Q68EM7 ABBA01017107;ABBA01017108;ABBA01017109;ABBA01017110;ABBA01017111;AC008731;AC010545;AF113218;AF163257;AF173885;AF258560;AF258580;AJ306731;AJ306732;AK001170;AK023281;AK027567;AK094886;AK125358;AK291691;AK301055;AK301500;AL833975;AMYH02031732;AMYH02031733;BC001241;BC080195;BI906519;BU187683;CH471145;NM_001006634;NM_018054;XM_005255413;XM_005255414;XM_006721057;XM_006721058;XM_006721059;XM_006721060 AAG23763;AAG23783;AAG39289;AAH01241;AAH80195;AAQ13586;AAQ13632;BAB14506;BAB55203;BAC86144;BAF84380;BAG62665;BAG63011;CAC37948;CAC37949;CAD38819;EAW55778;EAW55779;EAW55780;NP_001006635;NP_060524;Q68EM7;XP_005255470;XP_005255471;XP_006721120;XP_006721121;XP_006721122;XP_006721123 Hs.373793 1663010;1691024;1772907;5022651;5109663 D11S2921;D7S2067E;RH64964;RH70317;STS-W92992 DKFZp564A1363;FLJ37567;FLJ43368;MGC87805;MST066;MST110;MSTP038;MSTP066;MSTP110;PP367;PP4534;RICH-1;RICH1;RICH1B;WBP15 NADRIN;RhoGAP interacting with CIP4 homologs 1;neuron-associated developmentally regulated protein;rho GTPase-activating protein 17;rho-type GTPase-activating protein 17;rhoGAP interacting with CIP4 homologs protein 1 APPROVED protein-coding ENSG00000140750 HGNC:18239 12207 608293 VALIDATED 7491995 ARHGAP23P1 Rho GTPase activating protein 23 pseudogene 1 16 p11.2 33905444 33936913 - 102577425 AC140658;AMYH02031940;NG_033847 pseudo HGNC:45039 INFERRED 1316310 ARHGAP22 Rho GTPase activating protein 22 This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 q11.22 43239986 43398967 - 49654068 49864310 - 48446025 48656265 - 737633;1580863;6480464;8554872 12477932 14702039;15254788;15489334;16344560;16385451;20379614;20585324;21078624;21310492;21926414;21969604;22952583;23593239;8619474 58504 A6NHM7;A6NJ38;D6R9V6;D6RBJ8;Q7Z5H3 ABBA01047222;ABBA01047223;ABBA01047224;ABBA01047225;ABBA01047226;ABBA01047227;AC016397;AC016399;AC068898;AK055037;AK055937;AK127586;AK293579;AMYH02022974;AMYH02022975;AMYH02022976;AMYH02022977;AMYH02022978;AMYH02022979;AY324801;BC047096;BC126444;BC136319;CH471187;DB338179;DC391765;EF560749;KF455234;KF510336;KF510338;NM_001256024;NM_001256025;NM_001256026;NM_021226;NR_045675;U90908;XM_005270014;XM_006717934 AAB51057;AAI26445;AAI36320;AAP85632;ABQ59059;ADR83111;BAC87044;BAG51453;BAG57049;EAW93125;EAW93126;EAW93127;NP_001242953;NP_001242954;NP_001242955;NP_067049;Q7Z5H3;XP_005270071;XP_006717997 Hs.655672 1782214;2176351 SHGC-173293;WI-15769 RhoGAP2;RhoGap22 OTTHUMP00000019561;OTTHUMP00000217290;OTTHUMP00000217291;OTTHUMP00000217292;OTTHUMP00000217296;rho GTPase-activating protein 22;rho-type GTPase-activating protein 22 APPROVED protein-coding ENSG00000128805 HGNC:30320 12476 610585 VALIDATED 1350363 ARHGAP20 Rho GTPase activating protein 20 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 11 11 11 q23.1 107601250 107736673 - 110447759 110583912 - 110577035 110713189 - 6480464;8554872 10718198;12477932;14532992;15234003;15489334;15543602;16014623;20379614;20811636;21500311;22044751;23291589;23535033 57569 Q9P2F6 AB037812;ABBA01039829;ABBA01039830;ABBA01039831;AI936560;AK292290;AK307602;AMYH02025567;AMYH02025568;AP001883;AP001980;AP003460;AY496263;AY496264;AY496265;AY496266;AY496267;BC039340;BQ003257;CH471065;EF444953;KF511116;NM_001258415;NM_001258416;NM_001258417;NM_001258418;NM_020809;XM_005271628;XM_006718893 AAH39340;AAS45466;AAS45467;AAS45468;AAS45469;AAS45470;ACA05945;ACA05946;ADZ15624;BAA92629;BAF84979;EAW67133;EAW67134;NP_001245344;NP_001245345;NP_001245346;NP_001245347;NP_065860;Q9P2F6;XP_005271685;XP_006718956 Hs.6136 1656354;1682800;1704564;1767985;1771749;2152141;2168376 D11S4275;RH18243;RH68495;SHGC-83088;WI-13375;WI-18672;WIAF-1688 KIAA1391 OTTHUMP00000233638;OTTHUMP00000233639;OTTHUMP00000233640;OTTHUMP00000233641;OTTHUMP00000233642;RA and RhoGAP domain containing protein;RARHOGAP;rho GTPase activating protein 20 variant 2;rho GTPase-activating protein 20;rho-type GTPase-activating protein 20 protein-coding ENSG00000137727 HGNC:18357 10657 609568 VALIDATED 6480967 ARHGAP26-IT1 ARHGAP26 intronic transcript 1 (non-protein coding) 5 q31.3 143192345 143194166 + 100874372 ABBA01026364;AC004782;AI027230;AMYH02012375;XR_425917;XR_425918;XR_427793;XR_431934 Hs.666717 ncrna HGNC:41429 MODEL 1315415 ARHGAP24 Rho GTPase activating protein 24 ARHGAPs, such as ARHGAP24, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008] 4 4 4 q22.1 83686557 84212966 + 86068860 86923823 + 85147742 86002670 + 1580863;6480464;8554872 11230166;11256614;12477932;12601173;14702039;15254788;15302923;15489334;15611138;16344560;16862148;18029348;19144823;19293932;20062060;20062063;20379614;20670164;21823009;21832049;21911940;21926999;23097497;23139255;23251661;23382691;24526684;9847074 83478 D6RBC2;D6RCP5;D6RHH1;Q8N264 ABBA01063489;ABBA01063490;ABBA01063491;ABBA01063492;ABBA01063493;ABBA01063494;ABBA01063495;AC093877;AC097108;AC097488;AC098870;AC104059;AC104810;AC115620;AC131947;AC139716;AK091196;AK098193;AK130576;AK307423;AK308019;AL136646;AMYH02009640;AMYH02009641;AMYH02009642;AMYH02009643;AMYH02009644;AMYH02009645;AMYH02009646;AMYH02009647;AMYH02009648;AMYH02009649;AMYH02009650;AMYH02009651;AY211925;BC047918;BC098580;CH471057;DA546029;DA815489;DB109452;NM_001025616;NM_001042669;NM_001287805;NM_031305;XM_005263263 AAH47918;AAH98580;AAO65178;BAC03606;BAC85384;BAG53589;CAB66581;EAX05959;EAX05960;EAX05961;NP_001020787;NP_001036134;NP_001274734;NP_112595;Q8N264;XP_005263320 Hs.444229 1336699;1657656;1666474;1666707;1671858;1672628;1690420;1696076;1711270;1713891;1759973;2122886;2128655;2132567;2154948;2159772 D4S2340;D4S2356;D4S2409;D4S785;G09481;RH103371;RH119376;SHGC-112308;SHGC-37426;SHGC-50463;SHGC-50498;SHGC-50682;SHGC-58303;SHGC-79102;SHGC-89267;STS-N20263 DKFZp564B1162;FLJ33877;RC-GAP72;RCGAP72;p73;p73RhoGAP FILGAP;OTTHUMP00000160982;OTTHUMP00000160983;OTTHUMP00000218766;OTTHUMP00000218767;RAC1- and CDC42-specific GTPase-activating protein of 72 kDa;filamin-A-associated RhoGAP;rho GTPase-activating protein 24;rho-type GTPase-activating protein 24;rhoGAP of 73 kDa;sarcoma antigen NY-SAR-88 APPROVED protein-coding ENSG00000138639 HGNC:25361 09804 610586 VALIDATED 1322263 ARHGAP21 Rho GTPase activating protein 21 ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008] 10 10 10 p12.1 24564446 24712895 - 24872538 25012597 - 24583609 24723668 - 6480464;8554872 10718198;11238453;12056806;12477932;14702039;15778465;15793564;16385451;17347647;17620599;19268501;20195357;21173159;22318733;22922005;23235160;7829101 57584 E7ESW5;F8W9U9;H0Y468;H0Y5T2;Q5JSD8;Q5T5U3 AB037845;ABBA01034447;ABBA01034448;AF480466;AK074589;AK090642;AK295649;AK297278;AK307604;AL355979;AL392104;AL834495;AMYH02022473;AMYH02022474;AMYH02022475;AMYH02022476;AV709499;AV709848;BC022931;BC118915;BI491305;BQ026288;BX537570;CH471072;NM_020824;XM_005252542;XM_005252543;XM_005252544;XM_005252546;XM_005252547;XM_006717487;XM_006717488;XM_006717489;XR_242701 AAH22931;AAI18916;AAM22955;BAA92662;BAG59749;BAH12139;CAD39153;CAD97787;EAW86122;NP_065875;Q5T5U3;XP_005252599;XP_005252600;XP_005252601;XP_005252603;XP_005252604;XP_006717550;XP_006717551;XP_006717552 Hs.524195 1675395;1683607;1781980;2153569;2183526;5021996;5022450;5105769;5124137 D10S275;D10Ulb1;RH37461;RH45030;RH65067;RH66951;RH68400;SHGC-144197;SHGC-146218 ARHGAP10;DKFZp761L0424;FLJ33323;FLJ90108 OTTHUMP00000019319;OTTHUMP00000019321;Rho-GTPase activating protein 10;rho GTPase-activating protein 10;rho GTPase-activating protein 21;rho-type GTPase-activating protein 21 APPROVED protein-coding ENSG00000107863 HGNC:23725 06445 609870 VALIDATED 1351716 ARHGAP25 Rho GTPase activating protein 25 ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008] 2 2 2 p13.3 68812361 68904457 + 68961913 69053965 + 68734781 68826833 + 737633;1580863;6480464;8554872 12477932 15254788;15489334;19911011;21890473;24159190;7584044 9938 B7Z8K7;C9JB56;F8WAV9;F8WDF6;H7C4P1;P42331;V9HWC8 ABBA01075491;AC097495;AC105054;AC112700;AK290396;AK297056;AK297157;AK298669;AK303591;AK310742;AK311669;AMYH02004015;BC032222;BC039591;BX443252;CD695161;CH471053;D29642;EU794656;NM_001007231;NM_001166276;NM_001166277;NM_014882;XM_005264675;XM_005264676 AAH39591;AAY15074;AAY24006;ACJ13710;BAA06125;BAF83085;BAH12484;BAH12510;BAH12841;BAH13993;EAW99866;EAW99867;EAW99868;NP_001007232;NP_001159748;NP_001159749;NP_055697;P42331;XP_005264732;XP_005264733 Hs.531807 1684485;1686058;1787610;2131539;2155926;2218246 ARHGAP25_4361;D2S2611;RH17432;RH25288;RH91480;SHGC-155934 HEL-S-308;KAIA0053 OTTHUMP00000202079;OTTHUMP00000202080;OTTHUMP00000202081;OTTHUMP00000214416;OTTHUMP00000214419;OTTHUMP00000214420;OTTHUMP00000214421;epididymis secretory protein Li 308;rho GTPase-activating protein 25;rho-type GTPase-activating protein 25 APPROVED protein-coding ENSG00000163219 HGNC:28951 09805 610587 VALIDATED 1320244 ARHGAP23 Rho GTPase activating protein 23 The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008] 17 17 17 q12 33274219 33329461 + 36584720 36668628 + 38419286 38512392 + 6480464 10819331;12477932;15146197;15254754;16368877;16625196;17643375;19199708;21906983;21963094;23444366;23535730 57636 Q9P227 AB040934;ABBA01031919;ABBA01031920;ABBA01031921;ABBA01031922;AC115090;AC244153;BC039190;BM548592;BY795315;CN429246;CN429249;CN429251;CR746382;DN831435;EG328307;NM_001199417;R42869;XM_006721991;XM_006721992;XM_006721993;XM_006721994;XM_006725330;XM_006725331;XM_006725332;XM_006725333;XR_429908;XR_429909;XR_430785 BAA96025;NP_001186346;Q9P227;XP_006722054;XP_006722055;XP_006722056;XP_006722057;XP_006725393;XP_006725394;XP_006725395;XP_006725396 Hs.374446 1337023;1683431;1734408;2138310 A004B30;D17S1381E;D17S1836;RH91175 KIAA1501 OTTHUMP00000242673;rho GTPase-activating protein 23;rho-type GTPase-activating protein 23 APPROVED protein-coding ENSG00000275832 HGNC:29293 610590 VALIDATED 6481189 ARHGAP26-AS1 ARHGAP26 antisense RNA 1 5 5 142239169 142248475 - 142859604 142868910 - 100874239 ABBA01026366;AC008533;AMYH02012371;BC039527;HG498566;HG498567;HG498568;NR_046680 Hs.570896 AC008533.1 APPROVED ncrna ENSG00000226272 HGNC:40792 PREDICTED 6481080 ARHGAP31-AS1 ARHGAP31 antisense RNA 1 q13.33 16344560 100874246 AC092981;DA269443;NR_046748 Hs.607097 APPROVED ncrna HGNC:41235 VALIDATED 1346833 ARHGAP27 Rho GTPase activating protein 27 This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013] 17 17 17 q21.31 40180571 40212381 - 43471268 43510282 - 45393902 45432991 - 1302833;6480464;8554872 15147912 11181995;12107413;12297274;12477932;14702039;15492870;20070850;21890473 201176 E9PIR1;E9PK18;E9PNT2;E9PNX6;Q6ZUM4;Q8N2Y9 ABBA01028314;ABBA01028315;ABBA01028316;AC003070;AC091132;AC217778;AC244207;AF258593;AK092891;AK125535;AK290650;AK300880;BC029634;BC067345;BC101388;BC101389;BC101390;BC101391;BX386761;CD675139;CH471178;NM_001282290;NM_174919;NM_199282;XM_005257127;XM_005257128;XM_005275641;XM_005275642;XM_006721745;XM_006721746;XM_006721747;XM_006721748;XM_006721749;XM_006721750;XM_006725259;XM_006725260;XM_006725261;XM_006725262;XM_006725608;XM_006725609;XM_006725610;XM_006725611;XM_006725612;XM_006725613;XM_006725614;XM_006725615;XR_429873;XR_429874;XR_429875;XR_429876;XR_430745;XR_430746;XR_430747;XR_430898;XR_430899;XR_430900;XR_430901 AAG23796;AAH29634;AAH67345;AAI01389;AAI01390;AAI01391;AAI01392;BAC86196;BAF83339;BAH13366;EAW51527;EAW51528;NP_001269219;NP_777579;NP_954976;Q6ZUM4;XP_005257184;XP_005257185;XP_005275698;XP_005275699;XP_006721808;XP_006721809;XP_006721810;XP_006721811;XP_006721812;XP_006721813;XP_006725322;XP_006725323;XP_006725324;XP_006725325;XP_006725671;XP_006725672;XP_006725673;XP_006725674;XP_006725675;XP_006725676;XP_006725677;XP_006725678 Hs.205326 1337603;1660562;1775837;2182292;5020948;5037552;5109281;7185410 D17S1406E;D17S810;D1S1425;D8S2279;G35510;RH78841;SGC30868 CAMGAP1;FLJ35572;FLJ43547;FLJ76025;MGC120624;MGC78393;PP905;SH3D20;SH3P20 CIN85-associated multi-domain-containing Rho GTPase-activating protein 1;OTTHUMP00000234646;OTTHUMP00000234647;OTTHUMP00000234648;OTTHUMP00000234651;OTTHUMP00000234652;SH3 domain containing 20;SH3 domain-containing protein 20;rho GTPase-activating protein 27;rho-type GTPase-activating protein 27 APPROVED protein-coding ENSG00000159314 HGNC:31813 12477 610591 VALIDATED 1606326 ARHGAP29 Rho GTPase activating protein 29 ENCODES a protein that exhibits PDZ domain binding; INVOLVED IN intracellular signal transduction (inferred); positive regulation of Rho GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 1 1 1 p22.1 92888168 92957024 - 94634463 94713251 - 94168907 94237751 - 6480464;8554872 12477932;14749388;15752761;16189514;17488656;19343720;19911011;21139048;21502573;21906983;23000965;23008150;23400010;23455924;23798437;7566098;8889548;9305890 9411 F8VWZ8;Q52LW3 AA326126;AB208873;ABBA01045512;ABBA01045513;ABBA01045514;AK307733;AK310491;AL162735;AL833445;AMYH02001507;AW295796;BC022483;BC037337;BC067839;BC093741;BC093767;BF115799;BI548487;BU507990;BX508890;CA454270;CB852768;CH471097;NM_004815;U90920;XM_006711048 AAB81012;AAH22483;AAH67839;AAH93741;AAH93767;BAD92110;EAW73051;EAW73052;NP_004806;Q52LW3;XP_006711111 Hs.483238 1652685;1665014;1734522;1776558;1857145;2108339;2137302;2149897;2151163;2162713;2162715;2182717;5022578;5093466 A002A12;A009P20;D1S1423;D1S1765E;G19844;G32735;PARG1_7946;RH47971;RH64646;RH64657;RH64671;SHGC-32946;SHGC-75174;SHGC-75176 PARG1;RP11-255E17.1 OTTHUMP00000012383;OTTHUMP00000243160;PTPL1-associated RhoGAP 1 (PARG1);PTPL1-associated RhoGAP protein 1;rho GTPase-activating protein 29;rho-type GTPase-activating protein 29 protein-coding HGNC:30207 06674 610496 VALIDATED 1347841 ARHGAP28 Rho GTPase activating protein 28 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); FOUND IN cell junction; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 18 18 18 p11.31 6719871 6801101 + 6729717 6915715 + 6729718 6915716 + 737633;6480464 12477932 10718198;14702039;15489334;16177791;18029348;23251661 79822 B4DXL2;E9PL26;E9PMX7;J3KT69;J3KTC0;J3QKM0;J3QLR3;J3QRC2;Q9P2N2 AB037735;ABBA01049899;ABBA01049900;AI435330;AK001174;AK024298;AK130670;AK289791;AK302026;AK308259;AMYH02034259;AP005205;AP005210;BC033668;BC065274;BG720645;BX648684;CH471113;DC401238;NM_001010000;XM_005258144;XM_005258145;XM_005258146 AAH33668;AAH65274;BAA91533;BAA92552;BAF82480;BAG63424;EAX01633;EAX01634;EAX01635;NP_001010000;Q9P2N2;XP_005258201;XP_005258202;XP_005258203 Hs.183114 1680216;1686923;1689011;1699534;1751907;2114130;5022578;5109281;5120437 AB072742;D1S1423;D1S1425;GDB:315881;RH103364;RH92850;RH93818;RH93927;SHGC-105816 DKFZp686A2038;FLJ10312;FLJ27160 OTTHUMP00000236529;OTTHUMP00000236530;OTTHUMP00000236531;OTTHUMP00000236532;rho GTPase-activating protein 28;rho-type GTPase-activating protein 28 protein-coding ENSG00000088756 HGNC:25509 10961 610592 VALIDATED 1604190 ARHGAP30 Rho GTPase activating protein 30 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular membrane-bounded organelle; INTERACTS WITH cadmium atom; curcumin; lead(0) 1 1 1 q23.3 134083996 134106943 - 161016731 161039760 - 161046942 161069970 - 6480464;8554872 12477932;15144186;15489334;16344560;16710414;21565175;23128233;24816145 257106 E9PAN4;E9PLA4;E9PLT5;Q7Z6I6 AA835836;ABBA01016600;ABBA01016601;ABBA01016602;AK126116;AK126163;AK160366;AL591806;AL832852;AL833477;AMYH02002031;BC025732;BC043387;BC053688;BX537846;CH471121;DA814767;NM_001025598;NM_001287600;NM_001287602;NM_181720;XM_005245070;XM_005245071;XM_005245073 AAH43387;AAH53688;BAC86447;BAD18709;CAD97855;EAW52667;EAW52668;EAW52669;EAW52670;EAW52671;EAW52672;EAW52673;EAW52674;NP_001020769;NP_001274529;NP_001274531;NP_859071;Q7Z6I6;XP_005245127;XP_005245128;XP_005245130 Hs.389374 1730167;2129450;2177510;7185482 D1S273E;RH36021;STS-W72330 FLJ00267;FLJ44128;RP11-544M22.6 OTTHUMP00000029703;OTTHUMP00000029705;OTTHUMP00000228976;rho GTPase-activating protein 30;rho-type GTPase-activating protein 30 protein-coding ENSG00000186517 HGNC:27414 11250 614264 VALIDATED 1605412 ARHGAP32 Rho GTPase activating protein 32 RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008] 11 11 11 q24.3 126003454 126230572 - 128834955 129062093 - 128965060 129192198 - 6480464;8554872 10737800;12421765;12446789;12454018;12477392;12477932;12531901;12788081;12819203;12857875;14702039;15778465;16713569;17620599;17663722;18187620;18451111;18477472;18577589;20308060;20936779;22530067;23226367;23319000;9872452 9743 A7KAX9;E9PRH3;G3V174;Q86T64 AB018255;AB079856;AB088416;ABBA01023015;ABBA01023016;ABBA01023017;AK001257;AK023715;AK025237;AL833062;AMYH02025767;AMYH02025768;AMYH02025769;AMYH02025770;AP000747;AP000751;AP002886;AY194287;BC000277;BC023644;BC051236;BC054488;BC065371;BC104898;BC113429;BQ319051;CH471065;CK823137;EF127492;KF455566;NM_001142685;NM_014715;XM_005271736;XM_006718947 A7KAX9;AAH00277;AAH51236;AAH65371;AAI04899;AAI13430;AAO43677;ABO33171;BAA34432;BAC24802;BAM34446;CAD89974;EAW67732;EAW67733;EAW67734;EAW67735;EAW67736;EAW67737;EAW67738;EAW67739;EAW67740;EAW67741;EAW67742;NP_001136157;NP_055530;XP_005271793;XP_006719010 Hs.440379 1654475;1668170;1677490;1698878;1707790;1737255;2127872;2157956;5110027 D11S2097;D11S2896;D11S3120;D11S4354;G27495;RH103006;SHGC-82118;STS-M79191;WI-11842 GC-GAP;GRIT;KIAA0712;MGC1892;PX-RICS;RICS;p200RhoGAP;p250GAP GAB-associated CDC42;GAB-associated Cdc42/Rac GTPase-activating protein;GTPase regulator interacting with TrkA;GTPase-activating protein for Cdc42 and Rac1;OTTHUMP00000230948;OTTHUMP00000230996;OTTHUMP00000230997;OTTHUMP00000230998;RhoGAP involved in the -catenin-N-cadherin and NMDA receptor signaling;brain-specific Rho GTP-ase-activating protein;brain-specific Rho GTPase-activating protein;rac GTPase activating protein;rho GTPase-activating protein 32;rho-type GTPase-activating protein 32;rho/Cdc42/Rac GTPase-activating protein RICS;rhoGAP involved in the beta-catenin-N-cadherin and NMDA receptor signaling APPROVED protein-coding ENSG00000134909 HGNC:17399 12257 608541 VALIDATED 1318751 ARHGAP33 Rho GTPase activating protein 33 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] 19 19 19 q13.12 32979892 32993199 + 36266417 36279724 + 35775515 35788822 + 1580863;8554872 11441184;11485546;11736640;12297274;12461558;12477932;12773384;14702039;15057824;15489334;16777849;17664338;18660489;20873783;20936779 115703 A1A5D2;K7EK14;K7EMC2;K7EQI6;O14559 ABBA01018765;AC002398;AK096338;AK127255;AL137579;AMYH02035990;AY044864;BC014084;BC128586;HI574102;NM_001172630;NM_052948;XM_005258487;XM_005258488;XM_005258489;XM_006722999;XM_006723000;XM_006723001;XM_006723002;XM_006723003;XR_430187 AAB81197;AAB81198;AAH14084;AAI28587;AAK97795;BAC86902;BAG53264;CAB70821;CBX47540;NP_001166101;NP_443180;O14559;XP_005258544;XP_005258545;XP_005258546;XP_006723062;XP_006723063;XP_006723064;XP_006723065;XP_006723066 Hs.515364 1675583;1686508;1701628;2107645;2166105;2191661 MARC_4163-4164:996679454:1;RH104456;RH46149;RH75149;RH91709;SNX26__6878 FLJ39019;NOMA-GAP;SNX26;TCGAP neurite outgrowth multiadaptor RhoGAP protein;rho GTPase-activating protein 33;rho-type GTPase-activating protein 33;sorting nexin 26;sorting nexin-26;tc10/CDC42 GTPase-activating protein APPROVED protein-coding ENSG00000004777 HGNC:23085 15415 614902 REVIEWED 1606256 ARHGAP31 Rho GTPase activating protein 31 This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 117421692 117546790 + 119013220 119138323 + 119294289 119419476 + 6480464;7240710;8554872;8699517 10574462;11744688;12477932;12819203;15761153;16519628;17158447;18539136;19706030;20190752;20936779;21565291;21774070;22518840;22907917;23894747;8889548;9786927 57514 C9J652;Q2M1Z3 AB033030;ABBA01061585;ABBA01061586;AC092981;AK026689;AK293726;AMYH02007498;AMYH02007499;BC112163;BC112165;BM970175;CH471052;KF457672;NG_007665;NM_020754;XM_005247671;XM_006713714 AAI12164;AAI12166;ADR83297;BAA86518;BAH11580;EAW79573;EAW79574;NP_065805;Q2M1Z3;XP_005247728;XP_006713777 Hs.668218 1685231;1708644;1757461;1760183;2138434;2163536;2218352 CDGAP_4536;RH99056;SHGC-132468;SHGC-144836;SHGC-32480;SHGC-7110;SHGC-85123 AOS1;CDGAP;KIAA1204;MGC138368;MGC138370 Cdc42 GTPase-activating protein;OTTHUMP00000215062;rho GTPase-activating protein 31 APPROVED protein-coding ENSG00000031081 HGNC:29216 16697 100300;610911 REVIEWED 1603059 ARHGAP35 Rho GTPase activating protein 35 The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 44226291 44312689 + 47421824 47508334 + 46918676 47005077 + 6480464;6484113 11054565;11214970;11309200;12168954;12441060;12477932;14702039;15102857;15302935;15592455;16147992;16188938;16210701;16308318;16341674;16513268;16751776;17081983;17562701;18282590;18567581;18642445;18829532;18922893;1894621;19086053;19293150;19393245;19435801;20530197;20534586;20617170;20634891;20675588;21127047;21139048;21906983;22357615;22807448;23178654;23552690;24043274;24403595;8189062;8419471;8702520;9034330;9548756;9819392 2909 A2RRE5;Q9NRY4 AB051509;ABBA01040995;ABBA01040996;ABBA01040997;ABBA01040998;AC008755;AC008895;AF159851;AK096123;AK097314;AK298356;AL831914;AMYH02036240;AMYH02036241;AMYH02036242;BC003514;BC065491;BC131565;BC150257;BE871213;BM855708;CA429690;CH471126;CX163309;M73077;NM_004491 AAA58618;AAF80386;AAI31566;AAI50258;BAB21813;BAG60600;EAW57450;EAW57451;EAW57452;EAW57453;NP_004482;Q9NRY4 Hs.509447 1337079;1337680;1662366;1685041;1771682;2119507;2125050;2152575;2167876;5107703;5111275;7187464 D18S1154;D19S540;D19S851;RH12331;RH15918;RH67855;RH68444;RH77962;RH79947;STS-N25336;WI-9140 GRF-1;GRLF1;KIAA1722;MGC10745;P190-A;P190A;p190ARhoGAP;p190RhoGAP glucocorticoid receptor DNA binding factor 1;glucocorticoid receptor DNA-binding factor 1;glucocorticoid receptor repression factor 1;rho GAP p190A;rho GTPase-activating protein 35 APPROVED protein-coding ENSG00000160007 HGNC:4591 05592 605277 REVIEWED 1322105 ARHGAP26 Rho GTPase activating protein 26 Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 5 q31 138231606 138689843 + 142149881 142608572 + 142770378 143229007 + 1599311;1580863;6480464;7240710;8554872;8699517 10908648 10737800;11432776;11998687;12477932;14702039;15717329;18759275;18929667;18954304;20374274;20379614;20533268;20602808;20704716;21074269;21622574;21890473;21906983;21963094;21965292;23000965;23602568;24067935;7836419;8649427;9525907;9582072;9734811;9858476 23092 C9J6V4;F8W8N5;H0Y4P9;H0Y835;H7BZE1;H7BZZ0;H7C1J1;H7C205;H7C3P8;Q9UNA1 AB014521;ABBA01026364;ABBA01026365;ABBA01026366;ABBA01026367;AC004782;AC005348;AC005574;AC008533;AC012630;AF196313;AF508552;AK092488;AK095220;AK123519;AK124521;AK298708;AMYH02012371;AMYH02012372;AMYH02012373;AMYH02012374;AMYH02012375;BC021059;BC068555;BF085236;CH471062;HM037040;KC877124;KC877138;NG_016711;NM_001135608;NM_015071;XM_005268398;XM_005268399;XM_005268400;XM_005268402;XM_005268403;XM_006714768;XM_006714769;XM_006714770;XM_006714771;XM_006714772;XM_006714773;XM_006714774;Y10388 AAG30729;AAH68555;AAM61871;ADI49692;BAA31596;BAG53008;BAG60864;CAA71414;EAW61876;EAW61877;NP_001129080;NP_055886;Q9UNA1;XP_005268455;XP_005268456;XP_005268457;XP_005268459;XP_005268460;XP_006714831;XP_006714832;XP_006714833;XP_006714834;XP_006714835;XP_006714836;XP_006714837 Hs.654668 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REN24740;REN24741;REN24742;REN24743;REN24744;REN24745;REN24746;REN24747;REN24748;REN24749;REN24750;REN24751;REN24752;REN24753;REN24754;REN24755;REN24756;REN24757;REN24758;REN24759;REN24760;REN24761;REN24762;REN24763;REN24764;REN24765;REN24766;REN24767;REN24768;REN24769;REN24770;REN24771;REN24772;REN24773;REN24774;REN24775;REN24776;REN24777;REN24778;REN24779;REN24780;REN24781;REN24782;REN24783;REN24784;REN24785;REN24786;REN24787;REN24788;REN24789;REN24790;REN24791;REN24792;REN24793;REN24794;REN24795;REN24796;REN24797;REN24798;REN24799;REN24800;REN24801;REN24802;REN24803;REN24804;REN24805;REN24806;REN24807;REN24808;REN24809;REN24810;REN24811;REN24812;REN24813;REN24814;REN24815;REN24816;REN24817;REN24818;REN24819;REN24820;REN24821;REN24822;REN24823;REN24824;REN24825;REN24826;REN24827;REN24828;REN24829;REN24830;REN24831;REN24832;REN24833;REN24834;REN24835;REN24836;REN24837;REN24838;REN24839;REN24840;REN24841;REN24842;REN24843;REN24844;REN24845;REN24846;REN24847;REN24848;REN24849;REN24850;REN24851;REN24852;REN24853;REN24854;REN24855;REN24856;REN24857;REN24858;REN24859;REN24860;REN24861;REN24862;REN24863;REN24864;REN24865;REN24866;REN24867;REN24868;REN24869;REN24870;REN24871;REN24872;REN24873;REN24874;REN24875;REN24876;REN24877;REN24878;REN24879;REN24880;REN24881;REN24882;REN24883;REN24884;REN24885;REN24886;REN24887;REN24888;REN24889;REN24890;REN24891;REN24892;REN24893;REN24894;REN24895;REN24896;REN24897;REN24898;REN24899;REN24900;REN24901;REN24902;REN24903;REN24904;REN24905;REN24906;REN24907;REN24908;REN24909;REN24910;REN24911;REN24912;REN24913;REN24914;REN24915;REN24916;REN24917;REN24918;REN24919;REN24920;REN24921;REN24922;REN24923;REN24924;REN24925;REN24926;REN24927;REN24928;REN24929;REN24930;REN24931;REN24932;REN24933;REN24934;REN24935;REN24936;REN24937;REN24938;REN24939;REN24940;REN24941;REN24942;REN24943;REN24944;REN24945;REN24946;REN24947;REN24948;REN24949;REN24950;RH102698;RH119688;RH123521;RH15959;RH36178;RH68661;RH69744;RH76776;SHGC-104765;SHGC-145147;SHGC-32370;SHGC-35009;SHGC-52704;STS-F09886;WI-13339;WI-13649;stSG622983;stSG622985;stSG622987;stSG622989;stSG622990;stSG622991;stSG622992;stSG622993;stSG622994;stSG622995;stSG622996;stSG622997;stSG622998;stSG622999;stSG623000;stSG623001;stSG623002;stSG623003;stSG623004;stSG623005;stSG623006;stSG623007;stSG623008;stSG623009;stSG623010;stSG623011;stSG623012;stSG623013;stSG623014;stSG623015;stSG623016;stSG623017;stSG623018;stSG623019;stSG623020;stSG623021;stSG623022;stSG623023;stSG623024;stSG623025;stSG623026;stSG623027;stSG623028;stSG623029;stSG623030;stSG623031;stSG623032;stSG623033;stSG623034;stSG623035;stSG623036;stSG623037;stSG623038;stSG623039;stSG623040;stSG623041;stSG623042;stSG623043;stSG623044;stSG623045;stSG623046;stSG623047;stSG623048;stSG623049;stSG623050;stSG623051;stSG623052;stSG623053;stSG623054;stSG623055;stSG623056;stSG623057;stSG623058;stSG623059;stSG623060;stSG623061;stSG623062;stSG623063;stSG623064;stSG623065;stSG623066;stSG623067;stSG623068;stSG623069;stSG623070;stSG623071;stSG623072;stSG623073;stSG623074;stSG623075;stSG623076;stSG623077;stSG623078;stSG623079;stSG623080;stSG623081;stSG623082;stSG623084;stSG623085;stSG623086;stSG623087;stSG623088;stSG623089;stSG623090;stSG623091;stSG623092;stSG623093;stSG623094;stSG623095;stSG623096;stSG623097;stSG623098;stSG623099;stSG623100;stSG623101;stSG623102;stSG623103;stSG623104;stSG623105;stSG623106;stSG623107;stSG623108;stSG623109;stSG623110;stSG623111;stSG623112;stSG623113;stSG623114;stSG623115;stSG623116;stSG623117;stSG623118;stSG623119;stSG623120;stSG623121;stSG623122;stSG623123;stSG623124;stSG623125;stSG623126;stSG623127;stSG623128;stSG623129;stSG623130;stSG623131;stSG623132;stSG623133;stSG623134;stSG623135;stSG623136;stSG623137;stSG623138;stSG623139;stSG623142;stSG623144;stSG623145;stSG623146;stSG623147;stSG623148;stSG623149;stSG623150;stSG623151;stSG623152;stSG623153;stSG623154;stSG623155;stSG623156;stSG623157;stSG623158;stSG623159;stSG623160;stSG623161;stSG623162;stSG623163;stSG623165;stSG623166;stSG623167;stSG623169;stSG623170;stSG623171;stSG623172;stSG623173;stSG623174;stSG623175;stSG623176;stSG623177;stSG623179;stSG623180;stSG623181;stSG623182;stSG623183 FLJ42530;GRAF;GRAF1;KIAA0621;OPHN1L;OPHN1L1 GTPase regulator associated with focal adhesion kinase pp125(FAK);OTTHUMP00000066032;OTTHUMP00000070148;oligophrenin-1-like protein;rho GTPase-activating protein 26;rho-type GTPase-activating protein 26 APPROVED protein-coding ENSG00000145819 HGNC:17073 05643 605370;607785 REVIEWED 1603262 ARHGAP36 Rho GTPase activating protein 36 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; benzo[a]pyrene X X X q26.1 130578656 130610299 + 130192216 130223859 + 131058242 131089885 + 6480464;8554872 12477932;14702039;15489334;15772651;18029348;23464991;25024229 158763 Q6ZRI8;X6RIA0 AA405456;ABBA01047990;ABBA01047991;ABBA01047992;AK054620;AK128203;AK294274;AK296748;AL590131;AMYH02040493;BC063790;CD107623;CH471107;NM_001282607;NM_144967;XM_006724729 AAH63790;BAB70776;BAC87322;BAH11720;BAH12425;EAX11793;EAX11794;EAX11795;NP_001269536;NP_659404;Q6ZRI8;XP_006724792 Hs.22905 1658646;1721711;1755443;1852550 DXS7024E;G59719;SHGC-142312;WI-13730 FLJ30058;RP13-102H20.1 OTTHUMP00000024023;OTTHUMP00000024024;OTTHUMP00000024026;OTTHUMP00000215137;rho GTPase-activating protein 36 APPROVED protein-coding ENSG00000147256 HGNC:26388 06547 VALIDATED 1606778 ARHGAP39 Rho GTPase activating protein 39 INVOLVED IN axon guidance (inferred); regulation of small GTPase mediated signal transduction (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoskeleton (inferred); cytosol (inferred); nucleus (inferred); INTERACTS WITH coumestrol; 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 8 8 8 q24.3 141930235 142014662 - 145754563 145838891 - 144529179 144613506 - 6480464;8554872 11214970;12477932;14702039;15302935;15755809 80728 B3KS00;Q9C0H5 AB051475;ABBA01005198;ABBA01005199;ABBA01005200;AC084125;AK092501;AK296353;AK303851;AMYH02019010;AMYH02019011;AMYH02019012;BC013071;CH471162;KF573657;NM_025251;XM_005272344;XM_006716661 AAH13071;BAB21779;BAG52562;BAG59035;BAG64793;EAW82062;NP_079527;Q9C0H5;XP_005272401;XP_006716724 Hs.148988 CrGAP;KIAA1688;Vilse OTTHUMP00000228801;OTTHUMP00000228802;RhoGAP93B homolog;crossGAP homolog;rho GTPase-activating protein 39 APPROVED protein-coding ENSG00000147799 HGNC:29351 17224 615880 VALIDATED 1343259 ARHGAP40 Rho GTPase activating protein 40 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH hydralazine; valproic acid; tamoxifen (ortholog) 20 20 20 q11.23 33941365 33990115 + 37230577 37279295 + 38601934 38650652 + 6480464 343578 H0Y397;H0Y7S1;H7BXE0;Q5TG30 ABBA01052526;ABBA01052527;AL035419;AL133519;AMYH02037062;NM_001164431;XM_006723783 NP_001157903;Q5TG30;XP_006723846 Hs.451997 1335158;1743261;1760075;2118167;2171107 D20S1152;D20S478;GDB:313405;SHGC-107732;Z94371 C20orf95;dJ1100H13.4 OTTHUMP00000030971;rho GTPase-activating protein 18-like;rho GTPase-activating protein 40;rho-type GTPase-activating protein 40 APPROVED protein-coding ENSG00000124143 HGNC:16226 INFERRED 1343373 ARHGAP4 Rho GTPase activating protein 4 This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X q28 153406543 153425434 - 153172830 153191777 - 153907376 153926260 - 1580863;6480464 10655059;11076863;11256614;11754100;11756498;12376548;12414125;12447388;12477932;12736724;12787561;14581471;15489336;16381901;16417406;18029348;18489790;19913121;20237496;20628086;21890473;21906983;22009749;22751105;22965914;23182705;24043878;7981673;8570618;8590280 393 C9J5M2;C9JLA8;E7EQN5;E9PCM6;F8WAR0;H7C120;H7C2Z8;H7C3G3;H7C3K8;P98171;S4R314;S4R352 ABBA01045337;ABBA01045338;ABBA01045339;ABBA01045340;ABBA01045341;ABBA01045342;AI249937;AK294562;AMYH02040848;AY183123;BC023626;BC052303;CH471172;D50921;KF510182;KF510654;NG_013220;NM_001164741;NM_001666;U52112;X78817;Z68128 AAH23626;AAH52303;AAO66337;BAA09480;BAH11812;CAA55394;CAA92213;CAL37504;CAL38100;EAW72777;EAW72778;EAW72779;EAW72780;EAW72781;EAW72782;NP_001158213;NP_001657;P98171 Hs.701324 1801570;1802020;1803354;1803392;1804762;1804944;1805050;1805102;1809150;1810114;1810538;1810540;1810982;1811374;1812290;1814134;1817982;1827218;1828232;1837142;1840322;1843974;2034158;2034160;2034162;2034164;2034166;2034168;2034170;2034204;2034206;2034208;2034210;2034212;2034214;2034216;2034218;2034220;2034222;2034224;2034226;2034228;2034230;2034232;2034234;2034236;2034238;2034240;2034242;2034244;2034246;2034248;2034250;2034252;2034254;2034256;2034258;2034260;2034262;2034264;2034266;2034268;2034270;2034272;2034274;2034276;2034278;2034280;2034282;2034284;2034286;2034288;2034290;2034292;2034294;2034296;2034298;2034300;2034302;2034304;2034306;2034308;2034310;2034312;2034314;2034316;2034318;2034320;2034322;2034324;2034326;2034328;2034330;2034332;2034334;2034336;2034338;2034340;2034342;2034344;2034346;2034348;2034350;2034352;2034354;2034356;2034358;2034360;2034362;2034364;2034366;2034368;2034370;2034372;2034374;2034376;2034378;2034380;2102102;2102104;2102106;2102108;2102110;2102112;2102114;2102116;2102118;2102120;2102122;2102124;2102126;2116353;2173341;2218248 ARHGAP4_4362;DXS8147;ECD01663;ECD01891;ECD02574;ECD02593;ECD03313;ECD03408;ECD03466;ECD03493;ECD05564;ECD06049;ECD06262;ECD06263;ECD06489;ECD06685;ECD07152;ECD08096;ECD10046;ECD14724;ECD15241;ECD19737;ECD21346;ECD23199;REN88088;REN88089;REN88090;REN88091;REN88092;REN88093;REN88094;REN88111;REN88112;REN88113;REN88114;REN88115;REN88116;REN88117;REN88118;REN88119;REN88120;REN88121;REN88122;REN88123;REN88124;REN88125;REN88126;REN88127;REN88128;REN88129;REN88130;REN88131;REN88132;REN88133;REN88134;REN88135;REN88136;REN88137;REN88138;REN88139;REN88140;REN88141;REN88142;REN88143;REN88144;REN88145;REN88146;REN88147;REN88148;REN88149;REN88150;REN88151;REN88152;REN88153;REN88154;REN88155;REN88156;REN88157;REN88158;REN88159;REN88160;REN88161;REN88162;REN88163;REN88164;REN88165;REN88166;REN88167;REN88168;REN88169;REN88170;REN88171;REN88172;REN88173;REN88174;REN88175;REN88176;REN88177;REN88178;REN88179;REN88180;REN88181;REN88182;REN88183;REN88184;REN88185;REN88186;REN88187;REN88188;REN88189;REN88190;REN88191;REN88192;REN88193;REN88194;REN88195;REN88196;REN88197;REN88198;REN88199;RH25354;stSG603684;stSG603685;stSG603686;stSG603688;stSG603689;stSG603690;stSG603691;stSG603692;stSG603693;stSG603694;stSG603695;stSG603696;stSG603698 C1;KIAA0131;RGC1;RhoGAP4;SrGAP4;p115 OTTHUMP00000026003;OTTHUMP00000026004;OTTHUMP00000063090;OTTHUMP00000196209;OTTHUMP00000198723;Rho-GAP hematopoietic protein C1;rho GTPase-activating protein 4;rho-type GTPase-activating protein 4 APPROVED protein-coding ENSG00000089820 HGNC:674 02063 300023 REVIEWED 3500508 ARHGAP42 Rho GTPase activating protein 42 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); signal transduction (inferred); FOUND IN intracellular (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 11 11 11 q22.1 97727721 98030995 + 100558407 100861656 + 100687676 100990925 + 6480464 14702039;16344560;18954304;20379614;21909110;21909115;23667675;24335996 143872 A6NI28;E9PJK4;H0YDU1;H0YEJ7 ABBA01039961;ABBA01039962;ABBA01039963;ABBA01039964;ABBA01039965;ABBA01039966;AC015600;AI672473;AI677857;AK023666;AK057372;AMYH02025451;AMYH02025452;AMYH02025453;AMYH02025454;AMYH02025455;AMYH02025456;AMYH02025457;AMYH02025458;AMYH02025459;AMYH02025460;AMYH02025461;AP000872;AP001351;BM014001;BU146672;DA800121;EG328683;KF455472;NM_152432 A6NI28;BAB71456;NP_689645 Hs.741465 1336430;1340321;1648628;1658774;1668259;1690324;1698756;1738201;1857780;2111772;2133005;2153534;2173427;2182762;5020340;5113116;7190615;7190619 D0S2244;D11S1971;D11S2035;D11S2067;D11S3831;D11S4100;D11S4472;D11S900;RH102941;RH66017;RH69562;RH79067;RH92123;SGC31108;WI-11049;WI-17552 FLJ32810;GRAF3;KIAA0621 OTTHUMP00000236201;rho GTPase-activating protein 10-like;rho GTPase-activating protein 42;rho-type GTPase-activating protein 42 protein-coding ENSG00000165895 HGNC:26545 615936 PROVISIONAL 6768999 ARHGAP42P2 Rho GTPase activating protein 42 pseudogene 2 2 2 2 q21.1 124074581 124077578 + 130763773 130766771 + 130006200 130009198 + 100130693 ABBA01040140;AC079776;AMYH02004770 pseudo HGNC:43939 MODEL 6483750 ARHGAP42P1 Rho GTPase activating protein 42 pseudogene 1 2 2 132085749 132088667 - 131328176 131331094 - 100887075 ABBA01028239;AC073869;AMYH02004808;NG_032717 pseudo HGNC:43940 INFERRED 6770425 ARHGAP42P4 Rho GTPase activating protein 42 pseudogene 4 14 14 q11.2 20156459 20159355 + 19688300 19691196 + 254398 AL512310;AMYH02037969;NG_028869 pseudo HGNC:43941 INFERRED 1350998 ARHGAP42P3 Rho GTPase activating protein 42 pseudogene 3 22 22 q11.1 16424125 16444178 + 15533785 15553838 - 266698 AP000534;NG_002375 OPHN1P1 APPROVED pseudo HGNC:19327 INFERRED 6769156 ARHGAP42P5 Rho GTPase activating protein 42 pseudogene 5 14 14 q11.2 19399163 19403263 - 18622686 18626786 - 100128514 ABBA01173075;AMYH02028780;CR383656;NG_028186 pseudo HGNC:43942 INFERRED 1349829 ARHGAP6 Rho GTPase activating protein 6 This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X p22.3 15283114 15812107 - 11155663 11683821 - 11137543 11665701 - 1580863;6480464;8554872 10699171;12477932;12673365;18434237;19913121;19960375;20628086;22889411;23251683;8570618;9417914 395 B4DN07;B7Z8H7;H7BYE6;O43182;Q59HG6 AB208792;ABBA01070885;ABBA01070886;ABBA01070887;ABBA01070888;ABBA01070889;ABBA01070890;ABBA01070891;ABBA01070892;ABBA01070893;ABBA01070894;ABBA01070895;ABBA01070896;ABBA01070897;ABBA01070898;ABBA01070899;ABBA01070900;ABBA01070901;ABBA01070902;ABBA01070903;ABBA01070904;ABBA01070905;ABBA01070906;ABBA01070907;ABBA01070908;ABBA01070909;ABBA01070910;ABBA01070911;ABBA01070912;ABBA01070913;ABBA01070914;ABBA01070915;ABBA01070916;ABBA01070917;ABBA01070918;ABBA01070919;ABBA01070920;ABBA01070921;ABBA01070922;ABBA01070923;ABBA01070924;ABBA01070925;ABBA01070926;ABBA01070927;ABBA01070928;ABBA01070929;AC002366;AC003657;AC004467;AC004554;AC130886;AC130890;AF012272;AF022212;AF117067;AF177663;AF177665;AK293078;AK297713;AK297747;AK303444;AMYH02038853;AMYH02038854;AMYH02038855;AMYH02038856;AMYH02038857;AMYH02038858;AMYH02038859;AMYH02038860;BC035785;BC150635;CH471074;HY018118;KC877956;NG_012494;NM_001287242;NM_006125;NM_013423;NM_013427;NR_109776;XM_005274505;XM_005274506;XM_005274507 AAC98539;AAC98540;AAD53166;AAD55087;AAF43261;AAI50636;BAD92029;BAF85767;BAG60069;BAG60097;BAH13963;EAW98786;EAW98787;EAW98788;EAW98789;EAW98790;EAW98791;NP_001274171;NP_006116;NP_038267;NP_038286;O43182;XP_005274562;XP_005274563;XP_005274564 Hs.435291 1334942;1340401;1657639;1679774;1681165;1693974;1693976;1693978;1693980;1693982;1693984;1693998;1694028;1694052;1701994;1702156;1702256;1702852;1702862;1702906;1706890;1710836;1720241;1726893;1728909;1739475;1740289;1743711;1744867;1744869;1744873;1744877;1744879;1753779;1769050;1787204;1797068;1857984;2112222;2112224;2139997;2144628;2177113;2185482;2218250;7186425 AF003642;AF003643;AF003645;AF003646;AF003647;AF003648;AF003655;AF003672;AF003685;AFMa052zc1;AMELX;ARHGAP6_4363;D11S1905;DXF22S5;DXS1043;DXS1129;DXS1135;DXS1380;DXS1445;DXS7090;DXS7519;DXS7543;DXS7800;DXS7928;DXS8202;DXS9824;DXS9825;G42692;G62689;GDB:371402;GDB:574117;GDB:574121;GDB:574132;GDB:574144;GDB:574146;GDB:677393;RH123869;RH46956;RH79902;RH98500;SHGC-105133;SHGC-108012;SHGC-34710;SHGC-80932;SHGC-84186 RHOGAP6;RHOGAPX-1 OTTHUMP00000022913;OTTHUMP00000022915;OTTHUMP00000022916;OTTHUMP00000022917;OTTHUMP00000022918;OTTHUMP00000236431;Rho-type GTPase-activating protein RhoGAPX-1;rho GTPase-activating protein 6;rho-type GTPase-activating protein 6 APPROVED protein-coding ENSG00000047648 HGNC:676 02124 300118 REVIEWED 1606315 ARHGAP8 Rho GTPase activating protein 8 This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010] 22 22 22 q13.31 29060362 29170596 + 45148438 45258664 + 44752558 44862784 + 6480464;8554872 10591208;12297274;12477932;12559566;12944407;14702039;15064355;15225876;15506981;15944398;15955831;16555160;18217980;19913121;20179103;20628086;21890473;21906983;22554406;22863734 23779 B1AHC2;B1AHC4;B1AHF8;F8W6F4;F8WCV8;P85298;Q6PJW1 ABBA01017851;ABBA01017852;ABBA01017853;ABBA01017854;ABBA01017855;AF544240;AI284954;AK001306;AK022305;AMYH02038504;AMYH02038505;AMYH02038506;AMYH02038507;AW673723;BC010490;BC048280;BC059382;BC067824;BC093675;BC111953;NM_001017526;NM_001198726;NM_181335;Z93244 AAH10490;AAH48280;AAH59382;AAH93675;AAI11954;AAN40769;BAA91614;BAB14008;NP_001017526;NP_001185655;NP_851852;P85298 Hs.102336 1339982;1709650;1711490;1711492;1747489;1754307;1777909;2115169;2136929;2145942;5022578;5037552 AL008674;AL021650;AL021655;AL021670;D1S1423;D22S1168;D8S2279;G49246;G49247;G65368;SHGC-132331;SHGC-85190 BPGAP1;FLJ20185;PP610 BCH domain-containing Cdc42GAP-like protein;BNIP-2 and Cdc42GAP homology domain-containing, proline-rich and Cdc42GAP-like protein subtype-1;OTTHUMP00000028598;OTTHUMP00000082599;OTTHUMP00000082600;OTTHUMP00000219408;rho GTPase-activating protein 8;rho-type GTPase-activating protein 8 APPROVED protein-coding ENSG00000241484;ENSG00000248405 HGNC:677 06448 609405 REVIEWED 1354371 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 17 17 17 q25.3 76429063 76432256 - 79825595 79829282 - 81867721 81871406 - 1580863;6480464;6484113;6907045;8699517;7240710;8554872 10346909;10489445;10664460;10673424;10676816;10713718;10716190;10779444;11114252;11149925;11320308;11368848;11513578;11513579;11809807;12477932;12692556;15225553;15489334;15513926;15659383;15952105;16024605;16130169;16169070;16215275;16236267;16472651;16526095;16596196;16916647;16943322;17074770;17330946;17353931;17653765;17909265;18070886;18524772;18651761;18702520;18723680;18768928;18992375;19056867;19211846;19401544;19471022;20028975;20043072;20161819;20305651;20347589;20381070;20400958;20472934;20628200;20639865;20696765;20711218;20812987;20846184;20936779;21044950;21122136;21139048;21145461;21269984;21319273;21327297;21402697;21447808;21548210;21569526;21681778;21693764;21757538;21779026;21890473;21900206;21906983;22053931;22393046;22505724;22530308;22532870;22586326;22628549;22668020;22939629;23000965;23283986;23358418;23406297;23434736;23563506;23867502;23918979;23922223;23967341;24129566;24228117;24240172;24250222;24276241;24374343;24561123;24583282;24710410;24816145;8262133;8491184;8504089;9186513;9194563;9195882;9287351;9490022;9681826 396 J3KRE2;J3KRY1;J3KS60;J3KTF8;J3QQX2;J3QW41;P52565;V9HWE8 ABBA01019648;ABBA01019649;AC137723;AC145207;AF498926;AI391750;AI751683;AK293147;AK300816;AK312347;AMYH02034140;AMYH02034141;BC005851;BC005875;BC007630;BC008701;BC009759;BC013846;BC016031;BC016185;BC024258;BC027730;BC028333;BC075827;BC106044;BF343803;BI755343;BI768191;BM552638;BP325393;BQ674863;BT006884;CF132249;CF132324;CH471099;CR456777;D13989;DA433004;DC406556;EU794615;M97579;NG_034210;NM_001185077;NM_001185078;NM_001301240;NM_001301241;NM_001301242;NM_001301243;NM_004309;NR_125441;X63863;X69550 AAA36566;AAH05851;AAH05875;AAH08701;AAH09759;AAH16031;AAH16185;AAH24258;AAH27730;AAH75827;AAI06045;AAM21074;AAP35530;ABM82043;ABM85222;ACJ13669;BAA03096;BAG35268;BAG56694;BAG62471;CAA45344;CAA49281;CAG33058;EAW89697;EAW89698;NP_001172006;NP_001172007;NP_001288169;NP_001288170;NP_001288171;NP_001288172;NP_004300;P52565 Hs.159161;Hs.599508;Hs.728006 2115369 RH16023 GDIA1;HEL-S-47e;MGC117248;NPHS8 GDP-dissociation inhibitor, aplysia RAS-related 1;RHOGDI;RHOGDI-1;epididymis secretory sperm binding protein Li 47e;rho GDI 1;rho GDP-dissociation inhibitor 1;rho-GDI alpha APPROVED protein-coding ENSG00000141522 HGNC:678 03565 601925;615244 REVIEWED 1318315 ARHGAP5 Rho GTPase activating protein 5 Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q12 12412908 12495351 + 32545664 32628934 + 32076458 32159728 + 1580863;6480464;8554872 10092539;10713673;10769036;10939588;12477932;12554790;12842009;14610059;14702039;15231748;15588985;16469769;16777052;1689011;18996642;19822667;21139048;22939629;23184937;23402259;23474761;23552690;23653363;24316134;24561123;7935432;8344248;8537347;8889548 394 G3V360;G3V444;G3V5I7;H0YK04;Q13017 AB209751;ABBA01061428;ABBA01061429;AK023468;AK292966;AK307454;AL045112;AL161665;AMYH02028960;AMYH02028961;AY316523;BC032723;BC050059;BC075799;BC129928;BC129929;CA945100;CH471078;NM_001030055;NM_001173;U17032;XM_005267635;XM_005267636;XR_245684 AAA95963;AAH32723;AAH50059;AAH75799;AAI29929;AAI29930;AAP83192;BAD92988;BAF85655;EAW65935;EAW65936;EAW65937;EAW65938;NP_001025226;NP_001164;Q13017;XP_005267692;XP_005267693 Hs.592313 1666966;1671314;1701400;1771362;2115920;2122254;2127940 G35570;G36303;RH104330;RH18005;RH45106;RH68433;SHGC-36390 GFI2;RhoGAP5;p190-B;p190BRhoGAP OTTHUMP00000244094;OTTHUMP00000244095;OTTHUMP00000244097;OTTHUMP00000244099;growth factor independent 2;p100 RasGAP-associated p105 protein;p105 RhoGAP;rho GTPase-activating protein 5;rho-type GTPase-activating protein 5 APPROVED protein-coding ENSG00000100852 HGNC:675 04060 602680 REVIEWED 1344910 ARHGAP5-AS1 ARHGAP5 antisense RNA 1 (head to head) INTERACTS WITH aflatoxin B1; benzo[a]pyrene; calcitriol 14 14 14 q12 12411038 12412318 - 32544625 32545905 - 32075419 32076699 - 6480464 12477932;15489334;16341674 84837 Q96IT6 ABBA01061428;AF147421;AI493138;AK314153;AL161665;AMYH02028960;BC007251;BM745256;CH471078;HG506088;NR_027263 BAG36839;EAW65939;EAW65940;Q96IT6 Hs.496755 1671314;2122254 RH68433;SHGC-36390 C14orf128;MGC15504;RP11-431H16.2 APPROVED ncrna HGNC:20279 VALIDATED 1313314 ARHGAP9 Rho GTPase activating protein 9 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 57520025 57527620 - 57866038 57882756 - 57472255 57488621 - 1580863;6480464;7240710;8554872 11396949;12297274;12477932;14702039;15231748;15489334;16189514;16344560;17284314;17339315;19807924;19911011;21832049;21890473;22505724 64333 F8VQR0;F8VQY5;F8VR90;F8VSD0;F8VW89;F8W1N6;H0YI33;H0YI36;J3KPQ4;Q9BRR9;R4GN15 AB030239;AB051853;ABBA01026701;AC022506;AF161339;AK057573;AK092763;AK131415;AK300910;AK301095;AK304107;AL713803;AMYH02026584;BC006107;BC011820;CB528354;CH471054;DA675251;NG_023205;NM_001080156;NM_001080157;NM_032496;XM_005269079;XM_005269081;XM_005269082;XM_005269083;XM_005269084;XM_005269085;XM_006719560 AAF28899;AAH06107;AAH11820;ABM87429;ABW03888;BAB56159;BAB83128;BAC03969;BAD18562;BAG51936;BAG62545;BAG62695;BAG65010;CAD28552;EAW97014;EAW97015;EAW97016;EAW97017;EAW97018;NP_001073625;NP_001073626;NP_115885;Q9BRR9;XP_005269136;XP_005269138;XP_005269139;XP_005269140;XP_005269141;XP_005269142;XP_006719623 Hs.437126 1698778;1744029;1774019;1792710;2157183 D12S1934;GDB:384866;PMC156767P1;RH102952;STS-X07384 10C;FLJ16525;MGC1295;RGL1 OTTHUMP00000196432;OTTHUMP00000196433;OTTHUMP00000242579;OTTHUMP00000242581;rho GTPase-activating protein 9;rho-type GTPase-activating protein 9 APPROVED protein-coding ENSG00000123329 HGNC:14130 06449 610576 REVIEWED 1604841 ARHGAP44 Rho GTPase activating protein 44 ENCODES a protein that exhibits phospholipid binding; INVOLVED IN exocytosis (inferred); positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN leading edge membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; aflatoxin B1 17 17 17 p12 12718166 12920275 + 12692829 12894960 + 12789512 12991643 + 6480464;8554872 11431473;12477932;14702039;15489334;16169070;16344560;19273615;21107268;22566634;23648065;24250222;24816145;9734811 9912 A6NCP5;E7ERK8;F5H6L3;J3KRS3;J3QQU7;K7EK86;Q17R89;Q69Z00 AB014572;ABBA01055008;ABBA01055009;ABBA01055010;ABBA01055011;ABBA01055012;ABBA01055013;AC005274;AC005277;AK023797;AK294538;AL080100;AL096728;AMYH02033011;AMYH02033012;AMYH02033013;AY320403;BC022452;BC070074;BC094754;BC117412;BC117416;BC143852;BC143853;BC143855;BC143856;BM993036;CH471108;DA403021;DB461035;NM_014859;XM_005256888;XM_005256889;XM_005256890;XM_005256891;XM_006721615 AAH22452;AAI17413;AAI17417;AAI43854;AAP73805;BAA31647;BAG57745;CAB46376;CAH10728;EAW89965;EAW89966;EAW89967;EAW89968;EAW89969;NP_055674;Q17R89;XP_005256945;XP_005256946;XP_005256947;XP_005256948;XP_006721678 Hs.499758 1299913;1677102;1736636;1754321;2129366;2191793;7185389 D17S1477E;D17S947;MARC_7897-7898:996688141:1;RH45714;SHGC-132349;STS-N70341 KIAA0672;NPC-A-10;RICH-2;RICH2 OTTHUMP00000064673;Rho-type GTPase-activating protein RICH2;RhoGAP interacting with CIP4 homologs protein 2;rho GTPase-activating protein 44;rho GTPase-activating protein RICH2 APPROVED protein-coding ENSG00000006740 HGNC:29096 13810 VALIDATED 1346816 ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. [provided by RefSeq, Jul 2008] 8 8 8 p23 1715545 1849273 + 1772149 1906807 + 1823983 1958641 + 1580863;6480464;7240710;8554872;8699517 12168954;12477932;14508709;15146197;15489334;16896804;17893707;19615732;19635168;20042462;20379614;21719701;21743172;22863883;23412934;24250222;9205841;9314494 9639 E9PB39;H0YAN8;O15013 AA758332;AB002292;ABBA01016746;ABBA01016747;ABBA01016748;AC019257;AF009205;AI348138;AK309799;AL137508;AMYH02017233;AMYH02017234;AMYH02017235;AMYH02017236;BC026965;BC036809;BC040474;BC112926;CH471181;CN307765;CQ766815;CR749570;KF458656;NG_008480;NM_014629;XM_005266039;XM_005266040;XM_005266041;XM_005266042;XM_006716238;XM_006716239;XM_006716240;XM_006716241;XM_006725104;XM_006725105;XM_006725106;XM_006725107;XM_006725108;XM_006725109;XM_006725110;XM_006725111 AAB71662;AAH36809;AAH40474;AAI12927;BAA20754;CAF33078;CAH10696;CAH18365;EAW51480;EAW51481;EAW51482;EAW51483;EAW51484;NP_055444;O15013;XP_005266096;XP_005266097;XP_005266098;XP_005266099;XP_006716301;XP_006716302;XP_006716303;XP_006716304;XP_006725167;XP_006725168;XP_006725169;XP_006725170;XP_006725171;XP_006725172;XP_006725173;XP_006725174 Hs.98594 1643868;1679209;1685914;1708676;1715849;1727737;1771933;2115107;2134908;2183433;2217022;5037552 AF009206;AF009213;AF009214;ARHGEF10_3936;D8S2279;G63133;RH119618;RH79054;RH92255;RH98569;SHGC-81479;WI-11694 DKFZp686H0726;GEF10;MGC131664;SNCV OTTHUMP00000224478;OTTHUMP00000224479;OTTHUMP00000224480;OTTHUMP00000224481;rho guanine nucleotide exchange factor 10 APPROVED protein-coding ENSG00000104728 HGNC:14103 09735 608136;608236 REVIEWED 1313380 ARHGDIB Rho GDP dissociation inhibitor (GDI) beta Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010] 12 12 12 p12.3 20239953 20259563 - 15094949 15114562 - 14942016 14961628 - 1580863;6480464;6907045 10655614;10664460;10779444;11368848;11809807;11989976;12203895;12386169;12477932;15173088;15489334;15592455;16130169;17487395;17826660;18006811;18037226;18303015;18676680;18689726;19056867;19064571;19170196;19269969;19276387;19321744;19351766;19509238;19625176;19655254;19692168;20013033;20375790;20596634;21067243;21695085;21832049;21861235;21890473;21900206;21936715;21986528;2226408;22353809;22364609;22406535;22469974;22505724;22674302;22777355;23206989;23232495;24185104;24657165;7513052;7782346;7896279;8262133;8356058;8434008;8626669;9113980;9287351;9490022;9799233 397 F5H2R5;F5H3P3;F5H6Q0;H0YGX7;P52566 AA143425;AB451315;AB451445;ABBA01067887;AC007655;AF498927;AK311807;AMYH02026097;BC009200;CH471094;FB571118;FB668249;KF455613;L07916;L20688;NM_001175;X69549 AAA59539;AAH09200;AAM21075;ABM84229;ABM87475;BAG34750;BAG70129;BAG70259;CAA49280;CAR95110;CAS92768;EAW96336;EAW96337;EAW96338;EAW96339;EAW96340;EAW96341;EAW96342;NP_001166;P52566 Hs.504877 1725981;1734008;1795390;2130074;5123285 ARHGDIB_1466;D12S1115;G62403;RH126;SHGC-12871 D4;GDIA2;GDID4;Ly-GDI;RAP1GN1;Rho GDI 2;RhoGDI2;rho-GDI beta LYGDI;OTTHUMP00000239340;OTTHUMP00000239341;OTTHUMP00000239342;OTTHUMP00000239343;OTTHUMP00000239344;rho GDP-dissociation inhibitor 2 APPROVED protein-coding ENSG00000111348 HGNC:679 04162 602843 VALIDATED 1351280 ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] 19 19 19 q13.13 39186950 39211282 + 42387240 42411604 + 41883173 41907452 + 6480464;6484113 10556093;10608806;10648409;10747909;11313914;11358341;11384980;11524686;12270917;12372594;12477932;12525488;12534370;12581858;12681510;12692556;12748184;12754211;12951563;14634662;14712228;15090612;15143072;15489334;15735747;15753034;16215275;17335080;17493936;17643375;18029348;18320579;19720875;19738201;19911011;19913121;20619149;20628086;20936779;21064165;21145461;21454492;21890473;21900206;21906983;22086927;22500016;22505724;22661716;22863883;23070684;23077317;23705972;23718289;23816534;24816145;24855647;8810315;9135076;9641915;9641916 9138 M0QXV6;M0QYC1;M0QYS3;M0QZH8;M0QZR4;M0R1K8;M0R2C7;M0R3H5;Q6NX52;Q92888 ABBA01040816;ABBA01040817;AC010616;AC243967;AK026781;AL832294;BC005155;BC011726;BC015652;BC034013;BC035127;BC064996;BC067262;BM147791;BQ944132;BT007421;CH471126;NM_004706;NM_198977;NM_199002;U64105;XM_005259386;XM_005259387;XM_005259388;XM_005259389;XM_005259390;XM_006723463 AAB17896;AAH05155;AAH11726;AAH34013;AAH35127;AAH67262;AAP36089;ABM84518;ABM85930;ACE87053;ACE87735;EAW57077;EAW57078;EAW57079;EAW57080;EAW57081;EAW57082;EAW57083;EAW57084;NP_004697;NP_945328;NP_945353;Q92888;XP_005259443;XP_005259444;XP_005259445;XP_005259446;XP_005259447;XP_006723526 Hs.631550 1643897;1689927;5016478 GDB:434012;RH92886;WI-15934 GEF1;LBCL2;LSC;P115-RHOGEF;SUB1.5 115 kDa guanine nucleotide exchange factor;115-kD protein;Lsc homolog;p115RhoGEF;rho guanine nucleotide exchange factor 1 APPROVED protein-coding ENSG00000076928 HGNC:681 03511 601855 REVIEWED 1321818 ARHGDIG Rho GDP dissociation inhibitor (GDI) gamma The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010] 16 16 16 p13.3 530508 532906 + 330606 333003 + 280606 283003 + 1580863;6480464;8554872 11157797;11809807;11967128;12477932;14764880;15489334;15513926;15616553;20098615;21697133;8889548;8939998;9113980;9787082 398 A2ID99;C9J3B5;C9J9L9;C9JR26;F1T0H7;Q99819 AB593111;ABBA01030379;ABBA01030380;ABBA01030381;AE006463;AF080237;AF498928;AMYH02031186;BC047699;BM662457;BU732723;CH471112;NM_001176;U82532;Z69667 AAC33138;AAC72354;AAH47699;AAK61222;AAM21076;BAJ84051;CAI95584;CAI95585;CAM26353;EAW85837;NP_001167;Q99819 Hs.647388 1655114;1800744;1802368;1809570;1813390;1814346;1820840;1821132;1821192;1842726;2048400;2048402;2048404;2048406;2048410;2048412;2048414;2048416;2048418;2048420;2048422;2048424;2048430;2048432;2048436;2048440;2048444;2048446;2048448;2048450;2048452;2048454;2048456;2048458;2048460;2048462;2048464;2048466;2048468;2048470;2048472;2048474;2048476;2048478;2048480;2048482;2048484;2104578;2104580;2104582;2104584;2104586 ECD01233;ECD02068;ECD05777;ECD07716;ECD08202;ECD11496;ECD11643;ECD11673;ECD22570;REN95338;REN95339;REN95340;REN95341;REN95343;REN95344;REN95345;REN95346;REN95347;REN95348;REN95349;REN95350;REN95353;REN95354;REN95356;REN95358;REN95360;REN95361;REN95362;REN95363;REN95364;REN95365;REN95366;REN95367;REN95368;REN95369;REN95370;REN95371;REN95374;REN95375;REN95376;REN95377;REN95378;REN95379;REN95380;REN95381;REN95382;RH71265;stSG608995;stSG608996;stSG608998;stSG608999;stSG609003 RHOGDI-3 OTTHUMP00000067352;OTTHUMP00000067353;OTTHUMP00000194914;RhoGDI gamma;rho GDI 3;rho GDP-dissociation inhibitor 3;rho-GDI gamma APPROVED protein-coding ENSG00000242173 HGNC:680 04163 602844 VALIDATED 1605662 ARHGEF10L Rho guanine nucleotide exchange factor (GEF) 10-like ARHGEF10L is a member of the RhoGEF family of guanine nucleotide exchange factors (GEFs) that activate Rho GTPases (Winkler et al., 2005 [PubMed 16112081]).[supplied by OMIM, Dec 2008] 1 1 1 p36.13 16191428 16350418 + 17846693 18024370 + 17520197 17697875 + 6480464 10997877;12477932;14702039;16112081;16169070;18849993;19911011;20379614;22095909;23251661 55160 B4DTE2;Q5VXI4;Q9HCE6 AB046846;ABBA01000279;ABBA01000280;ABBA01000281;ABBA01000282;ABBA01000283;ABBA01000284;AK001383;AK092020;AK123471;AK126877;AK129606;AK129959;AK300174;AK300264;AK311076;AL139250;AL358593;AL390994;AMYH02000400;AMYH02000401;AMYH02000402;AW455769;BC003073;BC029928;BC065561;BC080596;BC111058;BC117171;BC143347;BX538146;CH471134;DQ139833;KF495877;KF510708;NM_001011722;NM_018125;XM_005245923;XM_005245924;XM_005245925;XM_005245926;XM_005245927;XM_005245928;XM_005245929;XM_006710727;XM_006710728;XM_006710729;XM_006710730;XM_006710731;XM_006710732;XM_006710733;XM_006710734;XR_426616;XR_426617;XR_426618 AAH65561;AAH80596;AAI17172;AAI43348;AAZ73162;ADR83391;BAA91663;BAB13452;BAC03792;BAG54386;BAG61954;BAG62025;EAW94840;EAW94841;EAW94842;EAW94843;EAW94844;NP_001011722;NP_060595;Q9HCE6;XP_005245980;XP_005245981;XP_005245982;XP_005245983;XP_005245984;XP_005245985;XP_005245986;XP_006710790;XP_006710791;XP_006710792;XP_006710793;XP_006710794;XP_006710795;XP_006710796;XP_006710797 Hs.443460 1648308;1663104;1732844;1733172;1735966;1761805;2123123;2133678;2180185;5022450;5024413;5037552 D10S275;D1S1283;D1S1474;D1S1954E;D1S544;D8S2279;G17701;HSC1HH062;L17877;SHGC-145764;SHGC-74299;SHGC-74357 FLJ10521;KIAA1626;RP11-473A10.1 GrinchGEF;OTTHUMP00000002615;OTTHUMP00000002616;OTTHUMP00000002617;rho guanine nucleotide exchange factor 10-like protein APPROVED protein-coding ENSG00000074964 HGNC:25540 07679 612494 VALIDATED 1315873 ARHGEF15 Rho guanine nucleotide exchange factor (GEF) 15 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010] 17 17 17 p13.1 8244326 8256604 + 8213556 8225834 + 8310238 8322516 + 1580863;6480464;6484113;8554872 10048485;12168954;12477932;12775584;14702039;15489334;15604093;16189514;16344560;19911011;21029857;21029865;23029280 22899 J3KT46;J3QQS4;J3QS60;O94989 AB020722;ABBA01054911;AC135178;AK023853;AK291626;AK300327;AL601528;AMYH02032923;BC036749;BQ004849;BQ877184;CH471108;DA632576;DB279954;NG_034063;NM_025014;NM_173728;XM_005256537;XM_006721474 AAH36749;BAA74938;BAF84315;BAG62077;EAW90060;EAW90061;NP_079290;NP_776089;O94989;XP_005256594;XP_006721537 Hs.443109 1686879;1694428;2130553;5037552 D8S2279;G42912;RH78291;RH80720 ARGEF15;E5;Ephexin5;FLJ13791;KIAA0915;MGC44868;Vsm-RhoGEF OTTHUMP00000135329;Rho GEF 15;Rho guanine exchange factor (GEF) 15;ephexin-5;rho guanine nucleotide exchange factor 15 APPROVED protein-coding ENSG00000198844 HGNC:15590 10535 608504 REVIEWED 734056 ARHGEF11 Rho guanine nucleotide exchange factor (GEF) 11 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 1 q21 129975863 130086340 - 156904632 157015512 - 156934840 157046558 - 1580863;6480464;8554872 10026210;10526156;10900204;11242047;11470431;11756498;12123608;12183458;12220504;12372594;12376548;12421765;12477932;12730235;12787561;14625312;14684465;14742719;15143072;15530360;15755723;16192269;16192272;16478718;16691626;16710414;17081983;17287471;17369523;17474147;17620599;18029348;18086913;18231709;19322201;19460155;19618964;19759375;20368287;20379614;20613766;20800603;20936779;21139048;21210224;21454492;21816819;21988832;24106280;24855647;9205841 9826 O15085 AB002378;ABBA01016640;ABBA01016641;AK302500;AL157713;AL356104;AL832790;AMYH02001983;AMYH02001984;AMYH02001985;AMYH02001986;AMYH02001987;AMYH02001988;BC057394;CH471121;NM_014784;NM_198236;XM_005245629;XM_005245633;XM_006711659;XM_006711660;XM_006711661;XM_006711662;XM_006711663;XM_006711664;XM_006711665 AAH57394;BAA20834;BAH13728;EAW52892;EAW52893;EAW52894;NP_055599;NP_937879;O15085;XP_005245686;XP_005245690;XP_006711722;XP_006711723;XP_006711724;XP_006711725;XP_006711726;XP_006711727;XP_006711728 Hs.516954 1664946;1692132;1703378;1755699;1761947;1766261;2123832;2124635;2133873 AL034019;RH45970;RH64623;RH68042;SHGC-142538;SHGC-145882;SHGC-149619;SHGC-68674;STS-AA039568 DKFZp667F1223;GTRAP48;KIAA0380;PDZ-RHOGEF OTTHUMP00000038716;OTTHUMP00000038717;Rho guanine exchange factor (GEF) 11;RhoA-specific guanine nucleotide exchange factor;RhoGEF glutamate transport modulator;glutamate transporter EAAT4-associated protein 48;rho guanine nucleotide exchange factor 11;rhogef glutamate transport modulator gtrap48 APPROVED protein-coding ENSG00000132694 HGNC:14580 09302 605708 REVIEWED 1347062 ARHGEF16 Rho guanine nucleotide exchange factor (GEF) 16 Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008] 1 1 1 p36.3 2624447 2650733 + 3371147 3397677 + 3454583 3481113 + 6480464 11756498;12376548;12477932;12787561;14702039;15161933;15489334;15778465;16344560;16710414;19707205;19911011;20339536;20679435;21139582;22889411 27237 B0QZD3;B0QZD4;B3KTS4;B4DJM7;Q5VV41 ABBA01073658;ABBA01073659;ABBA01073660;AK091910;AK095984;AK296150;AK310408;AL512413;AMYH02000134;AMYH02000135;AMYH02000136;BC002681;BC051838;BT007270;CH471130;D89016;DA539376;DB499586;NM_014448;XM_005244740;XM_006710578 AAH02681;AAH51838;AAP35934;ABM84739;ABM92254;BAA13745;BAG53186;BAG58889;EAW71452;EAW71453;NP_055263;Q5VV41;XP_005244797;XP_006710641 Hs.87435 1770023;2113216 D1S3709E;SHGC-74074 GEF16;NBR OTTHUMP00000000683;OTTHUMP00000000684;OTTHUMP00000000685;Rho guanine exchange factor (GEF) 16;ephexin-4;rho guanine nucleotide exchange factor 16 APPROVED protein-coding ENSG00000130762 HGNC:15515 12478 REVIEWED 1312950 ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 q23.3 117367395 117520075 + 120207264 120360645 + 120336555 120489936 + 1580863;6480464;6907045;7240710;8699517;8554872 10681437;11094164;11373293;11724822;11756498;11799111;12123608;12183458;12196628;12220504;12372594;12376548;12376551;12477932;12515866;12787561;14712228;15143072;15331592;15345747;15755723;16192269;16192274;16565089;16644711;17620599;17766704;18187620;18411422;19056867;19074425;19273616;19560536;19734946;19911011;20018869;20348106;20379614;20702813;20800603;21139048;21454492;21670212;22100544;22190034;22962269;23207522;23405219;23885121;24106280;24585879;9205841 23365 B4E2K6;E9PMR6;Q9NZN5 AB002380;ABBA01039657;ABBA01039658;AF119898;AF180681;AK294803;AK304316;AL137456;AMYH02025676;AMYH02025677;AP000659;AP000758;AP001150;BC031784;BC063117;BX647785;BX648515;CH471065;DC350360;NG_027960;NM_001198665;NM_001301084;NM_015313;XM_005271478;XM_005271480;XM_006718805 AAF36817;AAF69652;AAH63117;AAI52901;BAA20836;BAG57923;BAG65168;EAW67508;EAW67509;EAW67510;NP_001185594;NP_001288013;NP_056128;Q9NZN5;XP_005271535;XP_005271537;XP_006718868 Hs.24598 1652387;1676724;1752881;2117313;2123358;2130249;2131237;2164818;2164820;2171067;2172226;2218726;5093484;7186097;7186098 A005R48;A009P33;ARHGEF12_3798;D11S2318E;D11S4343;G20457;G29223;G32745;RH17448;RH36486;RH92805;SHGC-106833;WI-21762 DKFZp686O2372;KIAA0382;LARG;PRO2792 OTTHUMP00000231993;OTTHUMP00000231994;leukemia-associated RhoGEF;leukemia-associated rho guanine nucleotide exchange factor;rho guanine nucleotide exchange factor 12 APPROVED protein-coding ENSG00000196914 HGNC:14193 09207 601626;604763 REVIEWED 6481190 ARHGEF19-AS1 ARHGEF19 antisense RNA 1 p36.13 100874233 AI127333;AL109627 Hs.378115 APPROVED ncrna HGNC:39996 1312400 ARHGEF19 Rho guanine nucleotide exchange factor (GEF) 19 Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008] 1 1 1 p36.13 15004527 15018992 - 16524599 16539104 - 16198104 16212609 - 737633;1580863;6480464 12477932 14702039;15485661;18187620;18256687;21906983;24405610 128272 H0Y4D8;Q5TEV0;Q8IW93 ABBA01004679;AK091281;AK297707;AL109627;AL137736;AMYH02000379;BC012982;BC040640;CH471167;NM_153213 AAH12982;AAH40640;BAC03627;BAG60064;EAW51771;NP_694945;Q8IW93 Hs.591532 1678835;1696720;2107849 ARHGEF19_8138;RH91904;SHGC-77876 FLJ33962;RP4-733M16.1;WGEF OTTHUMP00000002239;ephexin-2;rho guanine nucleotide exchange factor 19;weakly similar to Rho GEF APPROVED protein-coding ENSG00000142632 HGNC:26604 10659 612496 PROVISIONAL 1322915 ARHGEF18 Rho/Rac guanine nucleotide exchange factor (GEF) 18 Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 19 19 19 p13.3 7331115 7409876 + 7420481 7537371 + 7348892 7472485 + 1580863;6480464;8554872 11085924;11318610;11756498;12376548;12477932;12787561;14512443;16344560;17643375;18029348;20200978;20810787;20811636;21258369;22006950;22445761;23185572;23648482;24250222;24816145;9628581 23370 M0QZS0;M0R125;Q6ZSZ5 AA609742;AA829883;AB011093;ABBA01006121;ABBA01006122;ABBA01006123;ABBA01006124;ABBA01006125;ABBA01006126;ABBA01006127;ABBA01006128;ABBA01010902;ABBA01010903;ABBA01010904;AC008878;AC119396;AK074372;AK127045;AMYH02035395;AMYH02035396;AMYH02035397;BC008016;BC014994;BC077721;BQ055909;BX404969;DB075637;KF456488;KF456490;NM_001130955;NM_015318;XM_005272464;XM_005272465;XM_006722705;XM_006722706;XM_006722707;XM_006722708;XM_006722709 AAH77721;BAA25447;BAC86801;NP_001124427;NP_056133;Q6ZSZ5;XP_005272521;XP_005272522;XP_006722768;XP_006722769;XP_006722770;XP_006722771;XP_006722772 Hs.465761;Hs.736818 1340746;1770216;1775484;2107847;2157737 2058;ARHGEF18_8009;D19S901;RH78224;WI-14772 KIAA0521;MGC15913;P114-RhoGEF 114 kDa Rho-specific guanine nucleotide exchange factor;P114-RHO-GEF;Rho-specific guanine nucleotide exchange factor p114;Rho/Rac guanine nucleotide exchange factor 18;SA-RhoGEF;p114RhoGEF;rho guanine nucleotide exchange factor 18;septin-associated RhoGEF APPROVED protein-coding ENSG00000104880;ENSG00000268861 HGNC:17090 12479 REVIEWED 1601833 ARHGEF25 Rho guanine nucleotide exchange factor (GEF) 25 Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 12 12 12 q13.3 57659778 57666841 + 58003963 58011028 + 57610180 57617245 + 6480464;8554872 11861769;12477932;12547822;15069594;15322108;15632174;16314529;16496360;18096806;18851832;18936096;20395553;20739613;21663592;21832057;21885830;22147804;23380069;23884432;24356540 115557 Q86VW2 AB370196;ABBA01026695;AC025165;AF487514;AI677902;AMYH02026588;BC012860;BC018536;BC047559;DB481981;NM_001111270;NM_182947;NR_046223 AAH12860;AAH18536;AAH47559;AAO49463;BAF94999;NP_001104740;NP_891992;Q86VW2 Hs.61581 1681919;2218522 DTX3__4788;RH94136 GEFT;p63RhoGEF OTTHUMP00000201858;OTTHUMP00000201859;RAC/CDC42 exchange factor;RhoA/RAC/CDC42 exchange factor;guanine nucleotide exchange factor GEFT;rac/Cdc42/Rho exchange factor GEFT;rho guanine nucleotide exchange factor 25;rhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT APPROVED protein-coding ENSG00000240771 HGNC:30275 13573 610215 VALIDATED 1603402 ARHGEF26 Rho guanine nucleotide exchange factor (GEF) 26 This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 3 3 3 q25.2 152256672 152396290 + 153838792 153975616 + 154121003 154257827 + 6480464;8554872 12477932;12697679;14702039;15133129;15221005;16344560;21332407;22383878;22824926;23661635;23775076 26084 B3KXG0;Q96DR7 AB073386;ABBA01058871;ABBA01058872;ABBA01058873;AC018452;AC207777;AF415175;AF415176;AK022655;AK022884;AK123040;AK127282;AL117429;AMYH02007938;AMYH02007939;AY552599;BC016628;BC078655;CH471052;DA248533;DB069290;FJ695204;NG_030405;NM_001251962;NM_001251963;NM_015595;XM_005247324;XM_006724998 AAH16628;AAH78655;AAL27001;AAL27002;AAS59842;BAB14159;BAB14292;BAD38637;BAG53860;BAG54472;CAB55918;EAW78764;NP_001238891;NP_001238892;NP_056410;Q96DR7;XP_005247381;XP_006725061 Hs.240845 1338640;1651927;1661080;1698022;1713453;1720105;1771880;2106605;2164068;5037552;5124909 A004B27;D3S2374;D3S3058;D3S3677;D8S2279;RH102541;RH119585;RH123794;RH93982;SGEF__5393;SHGC-30578 CSGEF;DKFZp434D146;HMFN1864;SGEF OTTHUMP00000217165;OTTHUMP00000217166;OTTHUMP00000217167;SH3 domain-containing guanine exchange factor;Src homology 3 domain-containing guanine nucleotide exchange factor;rho guanine nucleotide exchange factor 26 APPROVED protein-coding ENSG00000114790 HGNC:24490 11554 REVIEWED 1320476 ARHGEF17 Rho guanine nucleotide exchange factor (GEF) 17 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity; INVOLVED IN actin cytoskeleton organization; positive regulation of GTPase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic GMP; atrazine 11 11 11 q13.4 70324908 70385824 + 73019663 73080425 + 73306355 73369380 + 1580863;6480464;8554872 11559528;11756498;12071859;12376548;12477932;12787561;15778465;18029348;18677770;19911011;21139048;22911862;23195829;23284291;23443559;8889548;9205841 9828 H0YFZ8;Q96PE2 AB002335;ABBA01017522;AF378754;AI312037;AK074500;AMYH02025086;AMYH02025087;AP000562;AP002761;BC050031;BC137228;BM684780;CH471076;NM_014786;XM_006718752 AAH50031;AAI37229;AAL11991;BAA20795;EAW74891;NP_055601;Q96PE2;XP_006718815 Hs.533719;Hs.573929 1644877;1652016;1782276 RH16016;SHGC-112124;WI-18441 FLJ90019;KIAA0337;P164RHOGEF;TEM4;p164-RhoGEF 164 kDa Rho-specific guanine-nucleotide exchange factor;OTTHUMP00000237515;Rho-specific guanine-nucleotide exchange factor 164 kDa;rho guanine nucleotide exchange factor 17;tumor endothelial marker 4 protein-coding ENSG00000110237 HGNC:21726 10658 VALIDATED 5144507 ARHGEF26-AS1 ARHGEF26 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH silicon dioxide 3 3 3 q25 152159707 152256522 - 153742190 153838999 - 154024401 154121210 - 6480464;8554872 12477932 100507524 ABBA01058873;AC018452;AC068985;AC073908;AC128717;AMYH02007938;BC038431;NR_037901 Hs.370221 1749993;2142228;2147710;2183741 078XF7;SHGC-10223;SHGC-111699;SHGC-57137 APPROVED ncrna ENSG00000243069 HGNC:41048 VALIDATED 6892765 ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28 This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 5 5 5 q13.2 68817282 69133144 + 72921983 73237818 + 73626158 73941993 + 6480464;8554872 10574993;11058585;11533041;12056414;12477932;14702039;17595347;18029348;19460752;19488899;20200978;20379614;21224360;21502573;22835604;22941224;23286752;23509962;24816145;8889548;9199174 64283 D6RAP0;D6RGZ3;Q8N1W1 AB082529;ABBA01061921;AC008387;AC026702;AC091868;AC093283;AK025470;AK025816;AK094713;AK129761;AK304761;AMYH02011562;AMYH02011563;AMYH02011564;AMYH02011565;AMYH02011566;AMYH02011567;AMYH02011568;AMYH02011569;BC012946;BC157846;BC171850;BG696752;CN478799;CR936816;KF457921;KF457926;NG_017198;NM_001080479;NM_001177693;NM_001244364;XM_005248568;XM_006714669 AAH12946;AAI57847;AAI67854;AAI71850;BAB15141;BAB15243;BAC02707;BAC04405;BAG65516;NP_001073948;NP_001171164;NP_001231293;Q8N1W1;XP_005248625;XP_006714732 Hs.482521 1650784;1656561;1660861;1686602;1709178;1711340;1719435;1725333;1725377;1729950;1755643;1856393;2123568;2144321;5015861;5016478;7185938 A007G27;AFMA189XH9;D10S16;D5S112;DYS397;GDB:434012;RH118984;RH119006;RH123435;RH12825;RH65196;RH77867;RH99129;SHGC-142494;SHGC-84925;SHGC-85752 RGNEF;RIP2;p190RHOGEF 190 kDa guanine nucleotide exchange factor;Rho interacting protein 2;p190-RhoGEF;rho guanine nucleotide exchange factor 28;rho-guanine nucleotide exchange factor protein-coding ENSG00000214944 HGNC:30322 612790 REVIEWED 6481155 ARHGEF3-AS1 ARHGEF3 antisense RNA 1 3 3 56974068 56994882 + 56940040 56960854 + 100874200 ABBA01024429;AC099327;AC099559;AMYH02006855;BX090838;HG495697;NR_046572 Hs.549631 RP11-51O17.1 APPROVED ncrna ENSG00000240198 HGNC:40083 VALIDATED 7243794 ARHGEF34P Rho guanine nucleotide exchange factor (GEF) 34, pseudogene 7 7 q35 143956089 143983096 - 144258996 144286003 - 12477932;15252450;9847074 728377 ABBA01000976;ABBA01153768;AC004889;AC074386;AC245175;BC107871;DQ786236;DQ786285;NR_033942 AAI07872 Hs.744262 1699346 RH103260 pseudo HGNC:38086 VALIDATED 1312226 ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] 1 1 1 q21-q22 128989509 129021228 - 155916431 155953396 - 155946640 155983605 - 6480464;6484113;6907045;8554872 11076863;11230166;11595749;11756498;11912491;12376548;12384139;12477932;12787561;14676191;14702039;14970201;15146197;15302935;15324660;15489336;15827085;15866167;16381901;16565220;16778209;16964243;17314511;17353931;17488622;17643375;18095154;18211802;18287519;19043560;19322201;19596686;19615732;19625450;19667072;19805522;19911011;20089843;20558775;20803552;21139048;21212278;21352810;21513698;21525035;21887730;21906983;22002306;22072711;22226472;22226621;22268729;22298430;22301607;22505724;22513363;22593214;22678362;22898781;22959728;23000965;23022380;23057787;23383273;23432781;23443559;24043311;24255178;24332808;24352660;24525234;2466560;24706358;24816145;9734811;9843499;9857026 9181 Q5VY93;Q92974;V9GY94;V9GYF0;V9GYF5;V9GYG5;V9GYM8;V9GZ14;V9GZ58 AB014551;ABBA01016680;AF486838;AI925929;AK127366;AK295924;AK304548;AL355388;AL512715;AL832538;AMYH02001956;BC020567;BC027722;BT007407;CH471121;CN264153;CN388788;NM_001162383;NM_001162384;NM_004723;U72206;X15610;XM_005245587;XM_005245588;XM_005245589;XM_005245590;XM_005245591;XM_005245592;XM_005245593;XM_005245594;XM_005245595;XM_006711622;XM_006711623;XM_006711624;XM_006711625;XM_006711626 AAC97383;AAH20567;AAL96658;AAP36075;ABM82415;ABM85604;BAA31626;BAG58711;BAH14213;CAA33634;CAC21656;CAL38183;EAW53012;EAW53013;EAW53014;EAW53015;EAW53016;EAW53017;EAW53018;NP_001155855;NP_001155856;NP_004714;Q92974;XP_005245644;XP_005245645;XP_005245646;XP_005245647;XP_005245648;XP_005245649;XP_005245650;XP_005245651;XP_005245652;XP_006711685;XP_006711686;XP_006711687;XP_006711688;XP_006711689 Hs.743352 1684999;1731351;1846700;1851322;2110261;2161367 ARHGEF2_7937;D21S1418;G15881;RH12218;RH70822;RH93673 DKFZp547L106;DKFZp547P1516;FLJ45440;GEF;GEF-H1;GEFH1;KIAA0651;LFP40;P40 OTTHUMP00000018854;OTTHUMP00000018855;OTTHUMP00000018856;OTTHUMP00000018857;Rho/Rac guanine nucleotide exchange factor 2;guanine nucleotide exchange factor H1;microtubule-regulated Rho-GEF;proliferating cell nucleolar antigen p40;rho guanine nucleotide exchange factor 2 APPROVED protein-coding ENSG00000116584 HGNC:682 10458 607560 VALIDATED 3516342 ARHGEF33 Rho guanine nucleotide exchange factor (GEF) 33 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred) 2 2 2 p22.1 38987224 39043310 + 39146504 39202590 + 38919363 38975449 + 14702039;15815621 100271715 A8MVX0;H7C1C9;H7C3S6 ABBA01075022;AC018693;AC019171;AK123375;AMYH02003634;AMYH02003635;AW468668;BX116314;DV080125;DV080126;DV080278;DV080660;DY654603;DY654636;NM_001145451 A8MVX0;NP_001138923 Hs.99841 1694802;1697402;1719037;1719065;1721629;1734850 D2S1598E;G43628;G59825;RH102201;RH123225;RH123836 FLJ41381 DH and coiled-coil domain-containing protein ENSP00000381780;OTTHUMP00000204068;rho guanine nucleotide exchange factor 33 protein-coding ENSG00000214694 HGNC:37252 VALIDATED 1604887 ARHGEF35 Rho guanine nucleotide exchange factor (GEF) 35 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 7 7 7 q35 138516492 138517348 - 143883176 143892791 - 144186083 144195698 - 6480464;8554872 12477932;16344560;19322201;21906983 445328 A5YM69 ABBA01000976;AC004889;AC245175;AK125680;BC136868;BC136878;DA646728;EF560743;NM_001003702 A5YM69;AAI36869;AAI36879;ABQ59053;BAC86243;NP_001003702 Hs.534621 1854569 G27651 ARHGEF5L;CTAGE4;FLJ43692 ARHGEF5-like;OTTHUMP00000212575;Rho guanine nucleotide exchange factor (GEF) 5-like;rho guanine nucleotide exchange factor 35;rho guanine nucleotide exchange factor 5-like protein APPROVED protein-coding ENSG00000213214 HGNC:33846 13476 VALIDATED 1602402 ARHGEF37 Rho guanine nucleotide exchange factor (GEF) 37 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH calcitriol; coumestrol; testosterone 5 5 5 q32 145043054 145096412 + 148961064 149014531 + 149581393 149634968 + 6480464;8554872 12477932;14702039;23377640 389337 A1IGU5;D6RJH4 AB199796;ABBA01026300;ABBA01026301;AC021078;AC022100;AC116360;AK023814;AK123597;AK300355;AK300559;AK316002;AMYH02012448;BC041325;BF508325;BF510234;CH471062;NM_001001669;XM_005268447;XM_005268448;XM_006714784;XM_006714785 A1IGU5;BAC85655;BAF43710;BAG62096;BAG62265;BAH14373;EAW61765;EAW61766;NP_001001669;XP_005268504;XP_005268505;XP_006714847;XP_006714848 Hs.256206 1335371;1677484;1700426;1760647;5015861;7185938 D10S16;D5S812;RH103834;RH69939;SHGC-144191 FLJ41603 OTTHUMP00000224087;rho guanine nucleotide exchange factor 37 APPROVED protein-coding ENSG00000183111 HGNC:34430 13454 VALIDATED 1321712 ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p14.3 56727164 57078931 - 56761446 57113336 - 56727418 57079308 - 6480464;8554872 10873612;11076863;11230166;11256614;11756498;12221096;12376548;12477932;12787561;14702039;15489334;15489336;16236267;16344560;16381901;18499081;19110211;19427924;19471022;19727905;19820697;19911011;20379614;21452313;22139419;22505724;23251661;23263863;24026423;24043828;8125298 50650 B7Z6B2;C9J586;C9J5K8;C9J609;C9JNF2;E7EU49;E9PG37;F8WC29;F8WDB7;H7C4P0;Q9NR81 AB209661;ABBA01024428;ABBA01024429;ABBA01024430;ABBA01024431;ABBA01024432;ABBA01024433;ABBA01024434;ABBA01024435;ABBA01024436;ABBA01024437;ABBA01024438;ABBA01024439;AC097358;AC099327;AC099559;AC099781;AF249744;AF433662;AK024340;AK225688;AK291412;AK293864;AK300045;AK302493;AK308178;AL136832;AMYH02006853;AMYH02006854;AMYH02006855;AMYH02006856;AMYH02006857;AMYH02006858;AX002254;AX775923;BC022249;BC054345;BC068513;BC094748;BC098122;BC098272;BC099715;BC104723;CH471055;DA401228;DC334437;DC334772;NM_001128615;NM_001128616;NM_001289698;NM_019555;XM_005265186;XM_005265187;XM_005265188;XM_005265189 AAF79954;AAH54345;AAH68513;AAH98122;AAH98272;AAH99715;AAI04724;AAP97313;BAB14891;BAD92898;BAF84101;BAH11616;BAH13198;BAH13724;CAB66766;CAE11661;CAL37874;EAW65325;EAW65326;NP_001122087;NP_001122088;NP_001276627;NP_062455;Q9NR81;XP_005265243;XP_005265244;XP_005265245;XP_005265246 Hs.476402 1698034;1723075;1727387;1750475;1755349;1765309;1766617;1784576;1784584;1784606;1848816;1849579;2144254;2166089;2217024 ARHGEF3_3819;D3S2400;D3S3994;D3S4139;G63101;RH102548;RH121889;SHGC-110754;SHGC-111452;SHGC-111779;SHGC-111964;SHGC-142232;SHGC-148804;SHGC-149919;WIAF-1489 DKFZp434F2429;FLJ98126;GEF3;MGC118905;STA3;XPLN 59.8 kDA protein;OTTHUMP00000213598;OTTHUMP00000213599;OTTHUMP00000213600;OTTHUMP00000213602;OTTHUMP00000213603;OTTHUMP00000213612;RhoGEF protein;exchange factor found in platelets and leukemic and neuronal tissues, XPLN;rho guanine nucleotide exchange factor 3 APPROVED protein-coding ENSG00000163947 HGNC:683 12480 612115 REVIEWED 6480965 ARHGEF38-IT1 ARHGEF38 intronic transcript 1 (non-protein coding) 4 4 106482748 106491395 + 105561591 105570238 + 100874374 ABBA01063735;AC004066;AMYH02009852;BX108310;HG497139;NR_046840 Hs.668908 AC004066.5 ncrna HGNC:41483 PREDICTED 1312054 ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013] 2 2 2 q22 124772847 124903056 - 131594489 131804826 + 130836916 131047253 + 1580863;6480464;8554872 10470851;10873612;10947987;11756498;12168954;12376548;12477932;12598901;12787561;15572129;17002498;17588722;17599059;18653540;19525225;19628279;20936779;21788986;22543972;22745667;23941980 50649 A4QPB6;E7EV07;E9PEM0;H0Y451;H0YCT6;Q9NR80;Q9NTG0 AB029035;AB042199;ABBA01019376;ABBA01019377;ABBA01019378;AC009477;AC112786;AC133785;AF249745;AK127124;AL137289;AMYH02004801;AMYH02004802;AMYH02004803;BC036579;BC139742;CH471250;DQ424905;KF456708;KF456713;NM_015320;NM_032995;XM_005263681;XM_005263682;XM_005263683;XM_005263685;XM_005263686;XM_005263687;XM_005263688;XM_005263689;XR_244821 AAF79955;AAI39743;AAI60189;AAX93134;AAY24311;ABD83670;BAA83064;BAB11941;CAB70681;EAW51269;EAW51270;EAW51271;NP_056135;NP_127462;Q9NR80;XP_005263738;XP_005263739;XP_005263740;XP_005263742;XP_005263743;XP_005263744;XP_005263745;XP_005263746 Hs.469935 1705588;1774703;1849883;1849885;2106433;2142272;2170673 A001Y27;ARHGEF4_3818;G16357;G19788;RH47476;SHGC-83902;WI-10324 ASEF;ASEF1;GEF4;STM6 APC-stimulated guanine nucleotide exchange factor;APC-stimulated guanine nucleotide exchange factor 1;OTTHUMP00000162429;OTTHUMP00000203957;OTTHUMP00000203960;OTTHUMP00000232481;rho guanine nucleotide exchange factor 4 APPROVED protein-coding ENSG00000136002 HGNC:684 05559 605216 REVIEWED 1321248 ARHGEF39 Rho guanine nucleotide exchange factor (GEF) 39 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of cell migration; ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; INTERACTS WITH 17beta-estradiol; calcitriol; copper(2+) sulfate 9 9 9 p13.3 35592890 35598827 - 35658872 35675863 - 35658875 35675866 - 737633;6480464;8554872 12477932 14702039;16189514;16344560;21139048;21906983;22327280;22505724;24250222;8125298 84904 Q8N4T4 ABBA01064988;AK001187;AK027548;AK225501;AK225529;AK303513;AL357874;AMYH02019463;AY390225;AY390226;BC033666;BC038673;CH471071;DB109516;NM_032818;XR_242516 AAH33666;AAR01010;AAR01011;BAB55192;BAG64543;EAW58360;EAW58361;EAW58362;EAW58363;NP_116207;Q8N4T4 Hs.534579 5015961;5020948;5037552 D15S1477;D8S2279;G35510 C9orf100;FLJ14642;MGC44886;RP11-331F9.7 OTTHUMP00000021339;OTTHUMP00000021340;OTTHUMP00000021341;rho guanine nucleotide exchange factor 39;vav-like protein C9orf100 APPROVED protein-coding ENSG00000137135 HGNC:25909 12929 VALIDATED 1603216 ARHGEF38 Rho guanine nucleotide exchange factor (GEF) 38 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH pirinixic acid (ortholog); sodium fluoride (ortholog) 4 4 4 q24 103772904 103851995 + 106473704 106602070 + 105552554 105681558 + 6480464 12477932;18519826;19911011;20010835;20332099;20379614;24023788 54848 Q9NXL2 ABBA01063735;AC004066;AC105391;AK000191;AK125951;AMYH02009852;AMYH02009853;BC105695;CH471057;DT932593;KC876860;NM_001242729;NM_017700;XM_006714244;XR_427548 AAI05696;BAA90998;EAX06185;EAX06186;EAX06187;NP_001229658;NP_060170;Q9NXL2;XP_006714307 Hs.585224;Hs.652842;Hs.744739 1755467 SHGC-142334 FLJ20184;FLJ43963 OTTHUMP00000206608;OTTHUMP00000219756;rho guanine nucleotide exchange factor 38 APPROVED protein-coding ENSG00000236699 HGNC:25968 08613 VALIDATED 736143 ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7 Rho GTPases play a fundamental role in numerous cellular processes triggered by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. This protein can induce membrane ruffling. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q34 92614729 92805032 + 111767624 111958081 + 111115277 111305734 + 1580863;6480464;8554872 10330411;10428811;10896954;11157752;11756498;11864573;12006652;12226077;12376548;12473661;12477932;12499396;12626503;12787561;12888525;12888526;12935897;12938929;14505571;14557270;14559906;14702039;15123239;15144186;15182672;15212761;15306850;15324660;15489334;15491607;15649357;15761153;15864311;15975580;16101281;16169070;16228008;16329988;16344560;16356860;16374509;16407834;16492808;16628223;16983070;17081983;17219408;17562871;17652093;18029348;18067320;18160719;18325335;18385518;18445079;18684957;19041750;19118189;19303398;19414484;19448619;19923322;20080968;20395446;20936779;21048939;21102462;21139048;21423176;21706016;21906983;21926430;21963094;22087847;22505724;22588125;22945935;23175185;23288365;23455922;23615439;23740575;24129564;24204828;24792722;24816145;8076819;8590280;8889548;9207241;9659915;9726964 8874 B1ALK7;B1ANY6;B7Z6D9;B7Z6G2;C9JAD7;C9JDI6;E7ENL8;E7EU80;E7EUY6;E9PDQ5;Q14155 AA457036;AB075521;AB177848;AB177849;ABBA01026985;ABBA01026986;ABBA01026987;ABBA01026988;ABBA01026989;AJ844629;AJ844630;AJ844631;AJ844632;AJ844633;AK055476;AK093326;AK095058;AK295472;AK300157;AK300272;AK308897;AL139086;AL353704;AL390754;AL834228;AMYH02028715;BC033905;BC050521;BC060776;BM677392;BX648314;CF121796;CF144155;CH471085;D17055;D63476;DA216264;DB104833;DB180957;NM_001113511;NM_001113512;NM_001113513;NM_003899;NM_145735;XM_005254085;XM_005254086;XM_005254087;XM_005254088;XM_005254089;XM_005254090;XM_005254091;XM_005254092;XM_005254093;XM_005254094;XM_005254095;XM_006719956;XM_006719957;XM_006719958;XM_006719959;XM_006719960 AAH33905;AAH50521;AAH60776;ACE86956;ACE87647;ACE87830;ACT64348;BAA09763;BAD66826;BAD66827;BAE45764;BAH12080;BAH13225;BAH13248;CAD38906;CAH59748;CAH59949;EAX09142;EAX09143;EAX09144;EAX09145;EAX09146;EAX09147;EAX09148;EAX09149;NP_001106983;NP_001106984;NP_001106985;NP_003890;NP_663788;Q14155;XP_005254142;XP_005254143;XP_005254144;XP_005254145;XP_005254146;XP_005254147;XP_005254148;XP_005254149;XP_005254150;XP_005254151;XP_005254152;XP_006720019;XP_006720020;XP_006720021;XP_006720022;XP_006720023 Hs.508738 1685836;1711322;1718347;1737433;1852792;1856245;2106435;2161958;2173057;5020948;5022200 ARHGEF7_3917;D13S1000;D13S1183;G35510;L18426;RH122945;RH25365;RH66156;SGC33424;SHGC-30205;SHGC-84915 BETA-PIX;COOL-1;COOL1;DKFZp686C12170;DKFZp761K1021;KIAA0142;KIAA0412;Nbla10314;P50;P50BP;P85;P85COOL1;P85SPR;PAK3;PIXB OTTHUMP00000018715;OTTHUMP00000018717;OTTHUMP00000018718;OTTHUMP00000178803;OTTHUMP00000215110;OTTHUMP00000215156;OTTHUMP00000215158;PAK-interacting exchange factor beta;SH3 domain-containing proline-rich protein;guanine nucleotide exchange factor 7;rho guanine nucleotide exchange factor 7 APPROVED protein-coding ENSG00000102606 HGNC:15607 05688 605477 REVIEWED 6481181 ARHGEF7-AS1 ARHGEF7 antisense RNA 1 q34 100874226 AL353704;DB508209;NR_046516 Hs.577834 APPROVED ncrna HGNC:39816 VALIDATED 6481199 ARHGEF7-AS2 ARHGEF7 antisense RNA 2 q34 100874238 AL353704;BC043518 Hs.569218 APPROVED ncrna HGNC:40717 6480964 ARHGEF7-IT1 ARHGEF7 intronic transcript 1 (non-protein coding) q34 100874371 AL353704;BC043372 Hs.666495 ncrna HGNC:41408 1343816 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008] X X X q26.3 136111384 136227182 - 135747708 135863503 - 136665549 136781344 - 1580863;1599214;6480464;6907045;7240710;8699517;8554872 11017088 10428811;10523848;10559302;10896954;11337747;11564864;11756498;11864573;11937491;12006652;12376548;12477932;12499396;12787561;12935897;15144186;15242552;15302935;15306850;15324660;15489334;15611136;15649357;15688026;15761153;15772651;16094384;16320026;16374509;16897755;16964243;16983070;17081983;17405911;17620599;18029348;19672789;19911011;19918261;19969308;21900206;22118674;22505724;23455922;24816145;7584026;7584028;7584048;9582122;9659915;9783701 9459 B7Z3C7;Q15052;Q8N4Q3 ABBA01055930;ABBA01055931;ABBA01055932;ABBA01055933;ABBA01055934;ABBA01055935;ABBA01055936;ABBA01055937;ABBA01055938;ABBA01055939;ABBA01055940;ABBA01055941;ABBA01055942;ABBA01055943;ABBA01055944;AF207831;AK129909;AK291742;AK294929;AK295709;AK299861;AL135783;AL683813;AMYH02040581;BC033768;BC039856;BC043505;BE243825;BX537390;CH471150;D13631;D25304;NG_008873;NM_004840;XM_005262499;XM_005262501;XM_006724791 AAG27169;AAH33768;AAH39856;AAH43505;BAA02796;BAA04985;BAF84431;BAH11929;BAH12163;BAH13153;CAD97632;EAW88460;EAW88461;NP_004831;Q15052;XP_005262556;XP_005262558;XP_006724854 Hs.522795 1648712;1652152;1666578;1668687;1776976;1792622;2107851;2160941;5111488 ARHGEF6_7947;G10668;G18212;PMC155158P3;RH17397;RH25247;RH77692;SGC30410;SHGC-31468 COOL2;Cool-2;KIAA0006;MRX46;PIXA OTTHUMP00000024134;OTTHUMP00000024135;OTTHUMP00000024136;PAK-interacting exchange factor alpha;PAK-interacting exchange factor, alpha;Rac/Cdc42 guanine exchange factor (GEF) 6;alpha-PIX;alphaPIX;mental retardation, X-linked 46;rac/Cdc42 guanine nucleotide exchange factor 6;rho guanine nucleotide exchange factor 6 APPROVED protein-coding ENSG00000129675 HGNC:685 02226 300267;300436 REVIEWED 6481062 ARHGEF9-IT1 ARHGEF9 intronic transcript 1 (non-protein coding) q11.1 100874355 AL391277;AW138023;HG512554;NR_046803 Hs.671524 ncrna HGNC:41401 VALIDATED 735723 ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5 Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008] 7 7 7 q35 138733824 138751769 + 144052489 144077725 + 144355341 144380632 + 1580863;6480464;8554872 12006984;12107413;12477932;12853948;14702039;15489334;15681748;15778465;15951569;16964398;18029348;18067320;18444243;19713215;19913121;20628086;21525037;21832049;21906983;21988832;23359676;23535729;23647072;23956138;24126923;24157810;7656213;8134109;9314836 7984 C9J591;H0Y895;Q12774 AACC02000041;ABBA01033541;AC004534;AC245152;AK090570;AK123596;AK160365;BC010046;BC011839;BC014555;BC136661;BF209445;BG831953;BI256663;BX649178;CD674013;CH471146;CR749203;NM_005435;U02082;XM_006716127;XM_006716128 AAA18010;AAC12958;AAH10046;AAH11839;AAH14555;AAI36662;ABM84438;ABM87484;BAD18708;BAG52188;CAH18061;EAL24413;EAW80095;EAW80096;NP_005426;Q12774;XP_006716190;XP_006716191 Hs.334;Hs.534621 1686206;1699346;2155322;2217026 ARHGEF5_3900;RH103260;RH80813;TIM1 DKFZp686N1969;GEF5;P60;TIM;TIM1 OTTHUMP00000212568;OTTHUMP00000212569;OTTHUMP00000212570;ephexin-3;guanine nucleotide regulatory protein TIM;oncogene TIM;p60 TIM;rho guanine nucleotide exchange factor 5;transforming immortalized mammary oncogene APPROVED protein-coding ENSG00000050327 HGNC:13209 02932 600888 REVIEWED 1348513 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] X X X q11.1 63201689 63352277 - 62854847 63005426 - 63634967 63785546 - 6480464;7240710;8554872;8699517 10559246;10607391;11727829;11756498;12376548;12477932;12787561;15215304;15342556;15489334;15772651;16344560;18208356;18615734;19911011;20301437;20622020;20936779;21633362;21807943;22033413;22745667;22778260;24297911;9455477 23229 B1AMR3;B1AMR4;B4DGQ8;O43307 AB007884;ABBA01066807;ABBA01066808;ABBA01066809;ABBA01066810;ABBA01066811;ABBA01066812;ABBA01066813;ABBA01066814;ABBA01066815;ABBA01066816;ABBA01066817;ABBA01066818;ABBA01066819;ABBA01066820;ABBA01066821;ABBA01066822;ABBA01066823;AK289993;AK294721;AK295033;AK295178;AL355142;AL391277;AL451106;AL832116;AMYH02039596;BC018106;BC043497;BC046138;BC056892;BC117406;BP270451;CH471132;DB227223;NG_016975;NM_001173479;NM_001173480;NM_015185;XM_005262249;XM_005262250;XM_005262251;XM_005262252;XM_005262253;XM_006724636;XM_006724637 AAI17407;ADR83209;BAA24854;BAF82682;BAG57869;BAG58088;BAG58186;EAX05416;EAX05417;EAX05418;NP_001166950;NP_001166951;NP_056000;O43307;XP_005262306;XP_005262307;XP_005262308;XP_005262309;XP_005262310;XP_006724699;XP_006724700 Hs.54697 1682932;2125341;2162110 B324ZC5;DXS7000E;DXS7485 EIEE8;HPEM-2;KIAA0424;PEM-2;PEM2 OTTHUMP00000023424;OTTHUMP00000023425;OTTHUMP00000023427;PEM-2 homolog;collybistin;hPEM-2 collybistin;rac/Cdc42 guanine nucleotide exchange factor 9;rho guanine nucleotide exchange factor 9 APPROVED protein-coding ENSG00000131089 HGNC:14561 02337 300429;300607 REVIEWED 1603998 ARHGEF40 Rho guanine nucleotide exchange factor (GEF) 40 This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014] 14 14 14 q11.2 1399096 1418597 + 21538419 21558407 + 21070260 21090248 + 6480464 12477932;12693554;14702039;16143467;16169070;21139048;21832049;21890473;21906983;21963094;21987572;23000965;24639526 55701 G3V3N2;G3V485;G3V5C1;Q8TER5 ABBA01061239;AK001219;AK024463;AK074057;AK126755;AL137291;AL161668;AMYH02028827;BC000084;BC009992;BC142692;BC144317;BC151212;BF339938;BQ447317;BX248768;CH471078;HY010070;HY277017;NG_034001;NM_001278529;NM_001278530;NM_018071;T97121;XM_005267844 AAH00084;AAI42693;BAA91563;BAB15753;BAB84883;CAB70682;CAD66575;EAW66410;EAW66411;EAW66412;EAW66413;EAW66414;EAW66415;EAW66416;NP_001265458;NP_001265459;NP_060541;Q8TER5;XP_005267901 Hs.35125 1335484;1647366;1767733;1850019;1853000;2121138;2191765 A002S30;D14S1070;G27462;MARC_7201-7202:996687628:3;RH70031;RH70501;WI-11857 FLJ10357;SOLO OTTHUMP00000245893;rho guanine nucleotide exchange factor 40 APPROVED protein-coding ENSG00000165801 HGNC:25516 13335 610018 REVIEWED 1321437 ARID1A AT rich interactive domain 1A (SWI-like) This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p35.3 25419777 25505606 + 27022522 27108601 + 26696031 26782110 + 1580863;6480464;8694154;8699517;9495920;7240710;8554872 21358755;23355908 10757798;11018012;11073988;11078522;11159203;11318604;11726552;11734557;11780067;11784859;11988099;12200431;12477932;12665591;12672490;14559996;14702039;14722072;14729568;15170388;15382044;15640446;16055720;16230384;16287714;16710414;16940996;17081983;17255939;17363140;17492758;17878164;18003620;18029348;18086889;18809673;18854154;19322201;19454010;19486893;19505873;19609353;19650111;20086098;20305087;20360068;20400511;20460684;20599239;20826764;20942669;21139048;21145461;21412130;21532573;21889920;21890473;21892209;21900401;22009941;22037554;22101352;22157930;22193641;22274316;22301703;22426308;22484628;22586326;22653341;22808142;22910690;22915242;22939629;22939958;22976498;22990118;23030592;23080032;23097632;23202128;23232571;23318448;23349767;23416164;23427874;23524907;23556151;23650517;23667531;23702729;23887303;24036443;24076775;24185509;24241536;24255178;24293408;24382590;24430365;24435047;24457600;24562383;24566899;24767857;24788099;24793973;24816145;24925223;8125298;8804307;8895581;9434167;9584200;9630625;9845365 8289 E9PQW6;H0Y488;H0YCU6;H0YEW5;O14497;Q96SM7 AB001895;AB024075;AB210022;ABBA01034925;AF217506;AF219114;AF231056;AF265208;AF268913;AF521670;AK027442;AK027467;AK027655;AK074940;AK223275;AK308363;AL034380;AL512408;AMYH02000573;AMYH02000574;AMYH02000575;BC112895;CH471059;NG_029965;NM_006015;NM_139135 AAF67617;AAF75765;AAG17549;AAG33967;AAI12896;AAK54505;AAN03446;BAA23269;BAA83073;BAB55114;BAB55132;BAB55270;BAC11306;BAD96995;BAE06104;EAX07793;EAX07794;EAX07795;EAX07796;EAX07797;NP_006006;NP_624361;O14497 Hs.468972 1733078;1853307;1855057;2158238;2175441;2189439;2190943 D1S1417;D1S2243;HSC27A052;MARC_11851-11852:1029349291:1;MARC_6181-6182:992006984:1;SHGC-74444;SHGC-74487 B120;BAF250;BAF250a;BM029;C1orf4;ELD;MRD14;OSA1;P270;SMARCF1;hELD;hOSA1 ARID domain-containing protein 1A;AT-rich interactive domain-containing protein 1A;BRG1-associated factor 250;BRG1-associated factor 250a;OSA1 nuclear protein;OTTHUMP00000004117;OTTHUMP00000004118;OTTHUMP00000004119;SWI-like protein;SWI/SNF complex protein p270;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1;SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1;brain protein 120;chromatin remodeling factor p250;osa homolog 1 APPROVED protein-coding ENSG00000117713 HGNC:11110 04319 603024;614607 REVIEWED 1313245 ARID3A AT rich interactive domain 3A (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 858387 905149 + 925733 972816 + 925733 972816 + 1580863;6480464 10838570;11812999;12136662;12193717;12477932;12692263;15017387;15057824;15203319;16738337;17081983;17386101;18029348;18583319;19214191;19322201;19471022;20379614;20455271;20548946;20680960;21248039;21693764;21832049;22010578;22172947;22302879;22469780;22990118;23667531;24816145;9722953;9780002 1820 K7EJ04;Q99856 ABBA01002609;ABBA01002610;ABBA01002611;ABBA01002612;ABBA01002613;ABBA01002614;AC005379;AC005391;AF039844;AF039850;AMYH02035129;AMYH02035130;AMYH02035131;AY152547;AY845638;BC007077;BC033163;BC060828;CH471139;NM_005224;U88047;XM_005259512;XM_005259513;XM_005259514;XM_005259515 AAC28499;AAC28918;AAC32888;AAC69994;AAH33163;AAH60828;AAN74028;AAW30734;ABZ92420;EAW69580;NP_005215;Q99856;XP_005259569;XP_005259570;XP_005259571;XP_005259572 Hs.501296 1791119 REU1926 BRIGHT;DRIL1;DRIL3;E2FBP1 ARID domain-containing 3A;ARID domain-containing protein 3A;AT-rich interactive domain-containing protein 3A;B-cell regulator of IgH transcription;E2F-binding protein 1;at rich interactive domain 3a (bright- like);dead ringer-like 1;dead ringer-like protein 1 APPROVED protein-coding HGNC:3031 10343 603265 REVIEWED 1322383 ARID2 AT rich interactive domain 2 (ARID, RFX-like) ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180; MIM 606083), which facilitates ligand-dependent transcriptional activation by nuclear receptors (Yan et al., 2005 [PubMed 15985610]).[supplied by OMIM, Mar 2008] 12 12 12 q12 44920557 45099159 + 46123494 46301820 + 45729691 45908037 + 6480464;8694154;9495920;8554872 21358755;23355908 10997877;12477932;12672490;14702039;15060132;15146197;15159402;15489334;15640446;15922553;15985610;16303743;16782067;17643375;18809673;19505873;19596686;19668339;20130577;20305087;20360068;20599239;20936779;21139048;21549307;21822264;21890473;22095441;22140357;22505724;23047306;24382590;8895581 196528 F8VWP4;F8W108;F8WCU9;Q68CP9 AB046777;ABBA01031447;ABBA01031448;ABBA01031449;ABBA01031450;ABBA01031451;ABBA01031452;AC008124;AC009464;AC009777;AK027617;AK027718;AK055181;AK075385;AK127872;AL832200;AMYH02026403;AY727870;BC018661;BC038726;BC064625;BC090062;BX537879;BX648152;BX649133;CH471111;CN419675;CR749833;DQ096628;KF455640;NM_152641;XM_006719272;XM_006719273 AAH18661;AAH38726;AAH90062;AAI56212;AAI72461;AAU20329;AAZ74794;BAB13383;BAB55236;BAB55320;BAC11585;BAC87171;CAD91164;CAD97878;CAH18689;EAW57888;EAW57889;EAW57890;EAW57891;NP_689854;Q68CP9;XP_006719335;XP_006719336 Hs.317304 1661696;1663646;1675171;1705768;1712420;1712422;1712426;1712458;1769663;2174785;2191427;2217028;5094016 A010A40;ARID2_3730;G33057;G54245;G54246;G54248;G54266;MARC_21821-21822:1025098890:1;RH69395;SHGC-78670;WI-13379;WI-14321;WI-16568 BAF200;DKFZp686G052;DKFZp779P0222;FLJ30619;KIAA1557;p200 ARID domain-containing protein 2;AT-rich interactive domain-containing protein 2;BRG1-associated factor 200;OTTHUMP00000197509;OTTHUMP00000197510;zinc finger protein with activation potential;zipzap;zipzap/p200 APPROVED protein-coding ENSG00000189079 HGNC:18037 16505 609539 VALIDATED 1314897 ARID3B AT rich interactive domain 3B (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 15 15 15 q24 51781307 51840407 + 74833518 74890472 + 74541177 74598131 + 6480464;8554872 10446990;10838570;12477932;17643375;19430483;19881956;20211142;20379614;21044950;21139048;21832049;22307404;22751132;22860069;23667531;24704276 10620 H3BQ92;Q8IVW6 AB208830;ABBA01060495;ABBA01060496;AC100835;AF116846;AK298716;AK302034;AL137417;AMYH02030792;AMYH02030793;AMYH02030794;AMYH02030795;BC041792;BC045545;CH471136;DB455943;NM_006465;XM_005254129 AAD09133;AAH41792;BAD92067;BAG60872;BAG63430;EAW99327;EAW99328;NP_006456;Q8IVW6;XP_005254186 Hs.655532 1648294;1753989;1848891;2107855;2152584;7185146 ARID3B_7977;D15S1320;L17911;RH44782;SHGC-132023 BDP;DRIL2 ARID domain-containing protein 3B;AT rich interactive domain 3B (BRIGHT- like);AT-rich interactive domain-containing protein 3B;OTTHUMP00000180679;bright and dead ringer protein;bright-like protein APPROVED protein-coding ENSG00000179361 HGNC:14350 09806 612457 REVIEWED 1316702 ARID1B AT rich interactive domain 1B (SWI1-like) This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012] 6 6 6 q25.1 157833548 158266432 + 157098980 157531913 + 156777846 157210779 + 1302474;6480464;8694154;8699517;9587762;9495920;7240710;8554872 14633620;17489020;21358755;23355908 10078207;10574462;11078522;11734557;11988099;12200431;12477932;12665591;12672490;14574404;14702039;14982958;15170388;15231748;16230384;16751102;16952470;17000644;17255939;18029348;19176441;19336002;20086098;20305087;20360068;20379614;20602751;20978832;21118156;21139048;21145461;21294900;21448237;21801163;21890473;22158540;22405089;22426308;22426309;22939629;23000965;23202128;23275444;23419831;23556151;23660946;23834954;24068962;24255178;24366360;24382590;24562383;24788099;8889548;8896557;9804814 57492 H0Y2R3;H0Y3S9;H0Y7H8;Q8NFD5 AB033061;ABBA01025550;ABBA01025551;ABBA01025552;ABBA01025553;ABBA01025554;ABBA01025555;ABBA01025556;ABBA01025557;AF253515;AF259792;AF468300;AF521671;AJ001216;AK000921;AK025945;AK074180;AK302356;AL049820;AL136091;AL162578;AL355297;AL591545;AMYH02014814;AMYH02014815;AMYH02014816;AMYH02014817;AMYH02014818;AMYH02014819;AMYH02014820;AMYH02014821;AMYH02014822;BC009543;BU733862;CB240584;CH471051;KF458328;KF458335;NG_032093;NM_017519;NM_020732;XM_005267069;XM_006715523;XM_006715524;XM_006715525;XM_006715526;XM_006715527;Y08266 AAG36928;AAL76077;AAN03447;AAN70985;BAA86549;BAA91426;BAB85006;BAG63682;CAA69592;EAW47678;EAW47679;EAW47680;EAW47681;EAW47682;EAW47683;EAW47684;EAW47685;NP_059989;NP_065783;Q8NFD5;XP_005267126;XP_006715586;XP_006715587;XP_006715588;XP_006715589;XP_006715590 Hs.291587;Hs.744461 1660313;1664702;1668650;1675301;1715025;1715129;1719177;1735600;1769301;1774066;1775780;1848004;1853110;1855242;2107853;2116724;2123645;2128012;2141557;2145868;2176795;2177019;2180639;2186379;5093336;5123356 A009L35;ARID1B_8076;D6S1163E;D6S1878;G32659;G34995;RH119516;RH120849;RH123307;RH16172;RH46034;RH46651;RH46824;RH46858;RH63714;RH68694;RH68798;RH68946;SGC34328;SGC36816;SGC36953;SHGC-30226;SHGC-35096;STS-D20286;STS-T31821;WI-16864 6A3-5;BAF250b;BRIGHT;DAN15;ELD/OSA1;KIAA1235;MRD12;OSA2;RP11-419L10.1;p250R ARID domain-containing protein 1B;AT-rich interactive domain-containing protein 1B;BRG1-associated factor 250b;BRG1-binding protein ELD/OSA1;ELD (eyelid)/OSA protein;OTTHUMP00000017476;OTTHUMP00000017479;OTTHUMP00000223605 APPROVED protein-coding ENSG00000049618 HGNC:18040 10660 614556;614562 REVIEWED 6481048 ARID4B-IT1 ARID4B intronic transcript 1 (non-protein coding) q42.3 100874336 AL133418;H30066 ncrna HGNC:41407 1342507 ARID3C AT rich interactive domain 3C (BRIGHT-like) This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 34552959 34559515 - 34621455 34628011 - 34621458 34628014 - 6480464;8554872 10838570;11959810;15922553;21955986 138715 A6NKF2 ABBA01065009;AL450283;AMYH02019450;CH471071;NM_001017363 A6NKF2;AAI48444;EAW58438;NP_001017363 Hs.534549 ARID domain-containing protein 3C;AT-rich interactive domain-containing protein 3C;Brightlike;OTTHUMP00000211880;at rich interactive domain 3c (bright- like) APPROVED protein-coding ENSG00000205143 HGNC:21209 18550 REVIEWED 1604359 ARID4B AT rich interactive domain 4B (RBP1-like) This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 q42.1-q43 208572869 208734285 - 235330210 235491532 - 235166895 235328217 - 6480464;8554872 10737800;11481388;11790298;12446740;12477932;12724404;14702039;15247124;15302935;15489334;16387653;16710414;17043311;17081983;18193082;19471022;20195357;20347265;20379614;20936779;21139048;21693764;22693453;23752268;24816145 51742 H0Y7Y8;H7C5R6;Q4LE39;X6RCR8 AB210032;ABBA01033120;ABBA01033121;ABBA01033122;ABBA01033123;ABBA01033124;ABBA01033125;ABBA01033126;AF083249;AF208045;AF214114;AF227899;AI356277;AI431949;AK023144;AK057552;AL133418;AL133594;AL356781;AL391994;AMYH02002939;AMYH02002940;AMYH02002941;AMYH02002942;AY220790;BC017800;BC048959;BC062536;BC104632;BC130418;BC143719;BF899710;BX648820;CH471098;NG_029484;NM_001206794;NM_016374;NM_031371;XM_005273160;XM_006711781 AAD41239;AAF23433;AAF28341;AAF36964;AAH17800;AAH48959;AAH62536;AAI04633;AAI30419;AAO63590;BAB14428;BAE06114;CAB63731;CAI46047;EAW70008;EAW70009;EAW70010;EAW70011;EAW70012;EAW70013;EAW70014;EAW70015;NP_001193723;NP_057458;NP_112739;Q4LE39;XP_005273217;XP_006711844 Hs.575782 1339695;1779099;1848810;2176053;5021872;5022200;5022651;5037552 D11S2921;D1S2649;D1S3341;D8S2279;HSC1CA092;L18426;SHGC-76545;sY3084 BCAA;BRCAA1;DKFZp313M2420;MGC163290;RBBP1L1;RBP1L1;SAP180 180 kDa Sin3-associated polypeptide;ARID domain-containing protein 4B;AT-rich interactive domain-containing protein 4B;OTTHUMP00000037596;OTTHUMP00000037599;OTTHUMP00000037601;OTTHUMP00000197527;RBP1-like protein;Rb-binding protein homolog;SIN3A-associated protein 180;breast cancer-associated antigen 1;breast cancer-associated antigen BRCAA1;breast carcinoma-associated antigen;histone deacetylase complex subunit SAP180;retinoblastoma binding protein 1-like 1;retinoblastoma-binding protein 1-like 1;sin3-associated polypeptide p180 APPROVED protein-coding ENSG00000054267 HGNC:15550 10661 609696 REVIEWED 1322287 ARID5A AT rich interactive domain 5A (MRF1-like) Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008] 2 2 2 q11.2 91643676 91659583 + 97202464 97218375 + 96536727 96552634 + 6480464 12477932;12975309;15640446;15941852;16713569;18029348;18854154;21184583;21890473;22797925;23000965;23275563;24782182;8649988;8889548 10865 C9J1Q0;F6Q9D3;Q03989 ABBA01036588;ABBA01036589;AC013270;AK300173;AK304566;AK307768;AMYH02004335;AY358167;BC032488;BC047390;BC067301;BQ073595;BU734273;BX648918;CH471207;M62324;NM_212481;XM_005263856;XM_005263860;XM_005263861;XM_006712202;XM_006712203 AAA36325;AAI67773;AAQ88534;BAG61953;BAH14217;EAW71359;EAW71360;EAW71361;EAW71362;EAW71363;EAW71364;EAW71365;EAW71366;NP_997646;Q03989;XP_005263913;XP_005263917;XP_005263918;XP_006712265;XP_006712266 Hs.920 1773888;2135741 D2S2868;G09483 MRF-1;MRF1;RP11-363D14 ARID domain-containing protein 5A;AT-rich interactive domain-containing protein 5A;OTTHUMP00000207481;OTTHUMP00000207483;RFVG5814;modulator recognition factor 1;modulator recognition factor I APPROVED protein-coding ENSG00000196843 HGNC:17361 12481 611583 VALIDATED 1316636 ARID4A AT rich interactive domain 4A (RBP1-like) The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008] 14 14 14 q23.1 38815183 38890415 + 58765103 58840713 + 58298385 58373995 + 1580863;6480464;8554872 10321733;10369074;10490602;11283269;12477932;12724404;14581478;15302935;15640446;16344560;16387653;16873370;16919237;17043311;18211900;1857421;19471022;21148318;21693764;22118674;22247551;22732186;23752268;24379399;24654937;25027693;8414517;8455946;9660940 5926 C9J1W3;C9JIF4;F8WAR5;H7C485;P29374;Q05CG0 ABBA01018256;ABBA01018257;AF086075;AK307520;AK307972;AL132989;AL139021;AMYH02029277;AMYH02029278;AMYH02029279;BC026230;BX279740;CH471061;DB218466;KF455911;NM_002892;NM_023000;NM_023001;S57153;S57160;S57162;S66427;XM_005267964;XM_005267965 AAB25833;AAB25834;AAB25835;AAB28543;AAH26230;AAI72363;EAW80727;EAW80728;EAW80729;EAW80730;EAW80731;EAW80732;NP_002883;NP_075376;NP_075377;P29374;XP_005268021;XP_005268022 Hs.161000 1754449;1854745;2127283;2130027;2167839;2177449;2217030;5094000;5117014;5120121 A010A22;ARID4A_3852;AW466107;D14S1330;G33047;G35710;GDB:196872;SHGC-132583;SHGC-36294;SHGC-36874 RBBP-1;RBBP1;RBP-1;RBP1 ARID domain-containing protein 4A;AT-rich interactive domain-containing protein 4A;OTTHUMP00000179023;OTTHUMP00000179024;OTTHUMP00000197517;retinoblastoma binding protein 1;retinoblastoma-binding protein 1 APPROVED protein-coding ENSG00000032219 HGNC:9885 01575 180201 REVIEWED 1323345 ARID5B AT rich interactive domain 5B (MRF1-like) This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 10 10 10 q21.2 56927884 57123747 + 63661013 63856707 + 61901254 62096948 + 6480464 10329386;11478881;11483573;11959810;12477932;14702039;15164054;15489334;15640446;16009940;16344560;17000644;17081983;17407261;18612189;19322201;19430483;19684603;19684604;20042726;20054350;20460642;21145461;21532585;21693764;21889209;21890642;21906983;21963094;22291082;22446963;22660188;22922568;22971728;23016962;23022100;23118423;23273568;23291589;23382691;23512250;23608171;23667531;23692655;23752268;23836053;23975371;23996088;24013273;24200646;24390342;24497567;24561991;24712521;24816145;9808040 84159 Q14865 ABBA01019481;ABBA01019482;ABBA01019483;AC067742;AI149153;AK024803;AK123882;AK296921;AL049471;AL671972;AL731669;AMYH02023185;AMYH02023186;AMYH02023187;AMYH02023188;AMYH02023189;AMYH02023190;BC015120;BC017404;BC036831;BC056680;BC066345;BC107800;BG615173;BX352258;BX472565;BX537690;BX641020;BX648835;CH471083;DB014195;M73837;NG_030027;NM_001244638;NM_032199 AAA59870;AAH15120;AAH36831;AAH66345;AAI07801;AAI52737;AAI56571;BAB15012;BAG59475;CAD97814;CAE46013;EAW54226;EAW54227;EAW54228;NP_001231567;NP_115575;Q14865 Hs.535297 1338119;1656811;1668246;1695524;1726899;1752653;1771234;1771831;1853168;2109059;2117448;2133017 A003N19;AFM234WC5;ARID5B_3079;B353XB9;D10S609;G62692;RH47625;RH48313;SHGC-106526;SHGC-16154;SHGC-68542;STS-AA009652 DESRT;FLJ21150;FLJ41888;MRF-2;MRF2;RP11-341A19.1 ARID domain-containing protein 5B;AT-rich interactive domain-containing protein 5B;MRF1-like protein;OTTHUMP00000019668;modulator recognition factor 2 (MRF2) APPROVED protein-coding ENSG00000150347 HGNC:17362 608538 REVIEWED 2298738 ARIH2OS ariadne homolog 2 opposite strand FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; formaldehyde; methyl methanesulfonate 3 3 3 p21.31 48910982 48912579 - 48955221 48956818 - 48917788 48919385 - 6480464 14702039;16344560 646450 Q8N7S6 ABBA01024624;AC134028;AK097724;AMYH02006731;DA461567;NM_001123040 BAC05151;NP_001116512;Q8N7S6 Hs.720727 5014051;5021872;5022651 D11S2921;D8S2278;sY3084 C3orf71 OTTHUMP00000210387;ariadne-2 homolog opposite strand protein;hypothetical protein LOC646450;uncharacterized protein ARIH2OS;uncharacterized protein C3orf71 APPROVED protein-coding ENSG00000221883 HGNC:34425 PROVISIONAL 1314113 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN developmental cell growth; hematopoietic stem cell proliferation; protein K48-linked ubiquitination; FOUND IN cytoplasm; nucleus; INTERACTS WITH arsane; arsenic atom; cyclosporin A 3 3 3 p21 48912042 48977617 + 48956265 49022974 + 48918832 48985541 + 1580863;6480464 10422847;10880484;10931946;12234920;12477932;14702039;15146197;15489334;15545318;16118314;16169070;16189514;17043677;17646546;19340006;19549727;20639865;21139048;21454682;21890473;21906983;21963094;21988832;22037423;22053931;22493164;22819825;22863883;22940738;23000965;23022380;23383273;24058416;24076655;24816145;8125298 10425 C9JAU2;C9JBC5;C9JCL4;C9JZ71;F8WCS4;O95376;Q6IBL8 AB208857;ABBA01024621;ABBA01024622;ABBA01024623;ABBA01024624;AC134028;AC137630;AF099149;AF099150;AF099151;AF099152;AF099153;AF113677;AF183427;AJ130978;AK001800;AK091240;AK223550;AK307694;AK313434;AL110187;AL162034;AMYH02006731;AMYH02006732;AMYH02006733;AMYH02006734;BC000422;CH471055;CN399800;CR456785;NM_006321;XM_005264798;XM_006712924;XM_006712925;XM_006712926;XM_006712927;XM_006712928;XM_006712929 AAC82469;AAG09696;AAH00422;ABM85944;BAD92094;BAD97270;BAG36225;BAG50977;CAA10276;CAG33066;EAW64930;EAW64931;EAW64932;EAW64933;NP_006312;O95376;XP_005264855;XP_006712987;XP_006712988;XP_006712989;XP_006712990;XP_006712991;XP_006712992 Hs.633601 1646592;1646594;1650578;1652468;1676454;1687189;1697632;1740139;1855306;2149781;2164136;2186232;5019649 A006E46;A006J35;D3S3505;D3S3893;G20880;G32336;RH102329;RH16356;RH80209;RH80613;SGC35142;SHGC-76940;WI-11545 ARI-2;ARI2;FLJ10938;FLJ33921;TRIAD1 E3 ubiquitin-protein ligase ARIH2;OTTHUMP00000164828;OTTHUMP00000210388;all-trans retinoic acid inducible RING finger;ariadne homolog 2;protein ariadne-2 homolog APPROVED protein-coding ENSG00000177479 HGNC:690 09286 605615 PROVISIONAL 1317726 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 ENCODES a protein that exhibits ubiquitin protein ligase binding; ubiquitin-protein transferase activity; zinc ion binding; INVOLVED IN protein ubiquitination; FOUND IN cytoplasm; INTERACTS WITH atrazine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 15 15 15 q24 49652768 49763614 + 72766667 72878904 + 72474282 72586563 + 1580863;6480464 10521492;10880484;10926929;11124525;11124703;11278816;12234920;12477932;14623119;15236971;15489334;15963499;18654987;18781797;19615732;21139048;21145461;21532592;21590270;21890473;21906983;21963094;21987572;22037423;22268729;22505724;22863883;23000965;23022380;23059369;23383273;23707686;24023840;24058416;24076655;24816145;25015289 25820 H3BNB9;H3BSK4;H3BUS0;Q9Y4X5 AB014774;AB209432;ABBA01038725;ABBA01038726;ABBA01038727;AC079322;AC100827;AF072832;AJ009771;AJ130976;AJ243190;AK000336;AK312715;AL117650;AMYH02030758;AMYH02030759;AMYH02030760;AMYH02030761;BC051877;BX641117;CH471082;CQ834334;NM_005744;XM_006720460 AAD28088;AAH51877;BAB19786;BAD92669;BAG35590;CAA08817;CAA10274;CAB45870;CAH05382;EAW77907;EAW77908;NP_005735;Q9Y4X5;XP_006720523 Hs.268787 1646083;1677864;1739275;1795398;1850906;1856906;2138783;2148216 A004P07;ARIH1_702;D2S1933E;RH47216;RH77925;RH93460;SHGC-34211;SHGC-36787 ARI;ARI-1;DKFZp686O13120;FLJ20329;FLJ93118;H7-AP2;HARI;MOP-6;UBCH7BP E3 ubiquitin-protein ligase ARIH1;HHARI;OTTHUMP00000164679;ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1;ariadne, Drosophila, homolog of;monocyte protein 6;protein ariadne-1 homolog;ubcH7-binding protein;ubcM4-interacting protein;ubiquitin-conjugating enzyme E2-binding protein 1 APPROVED protein-coding HGNC:689 05730 605624 VALIDATED 2289744 ARIH2P1 ariadne homolog 2 pseudogene 1 18 18 18 q12.1 23042743 23044624 + 26231494 26233375 + 28651530 28653411 + 390844 ABBA01022547;AC027141;AMYH02034477;NG_009482 1652468;2164136;5019649 A006E46;G32336;SGC35142 ARIH2P APPROVED pseudo HGNC:31732 INFERRED 1344087 ARL10 ADP-ribosylation factor-like 10 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN intracellular (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 5 5 5 q35.2 172701905 172709953 - 175792477 175800934 + 176365474 176373931 + 1580863;6480464 12477932;14702039;15033445;21890473;24250222 285598 H0Y8L6;H0Y9R6;Q6PCE2;Q8N8L6 ABBA01033501;AC138956;AMYH02012812;BC059361;CH471195;DR001833;NM_173664;XM_005265890;XM_005265891 AAH59361;EAW85086;NP_775935;Q8N8L6;XP_005265947;XP_005265948 Hs.424552 1688424 RH92676 ARL10A;FLJ39249 ADP-ribosylation factor-like 10A;ADP-ribosylation factor-like membrane-associated protein;ADP-ribosylation factor-like protein 10;OTTHUMP00000161237 protein-coding HGNC:22042 12482 VALIDATED 1317649 ARL11 ADP-ribosylation factor-like 11 This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010] 13 13 13 q14.2 31257372 31262945 + 50202435 50208008 + 49628299 49633872 + 737633;1580863;6480464 12477932 14702039;15057823;15489334;15843669;16189514;16353159;16488076;16570116;16581122;16646072;17391501;17449901;17699778;18337727;18375053;19060904;19509554;20067102;20358297;21890473;22028916;23000965;23412934;23940804 115761 Q969Q4 ABBA01051020;AF441378;AK091249;AL135901;AMYH02028012;BC013150;CH471075;NG_021342;NM_138450;XM_005266253 AAH13150;AAP19650;BAC03621;EAX08831;NP_612459;Q969Q4;XP_005266310 Hs.558599 5022200;5022578 D1S1423;L18426 ARLTS1;FLJ33930;MGC17429 ADP-ribosylation factor-like protein 11;ADP-ribosylation factor-like tumor suppressor protein 1;OTTHUMP00000018420 APPROVED protein-coding ENSG00000152213 HGNC:24046 12484 609351 REVIEWED 1343034 ARL13A ADP-ribosylation factor-like 13A ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN intracellular (inferred); INTERACTS WITH indole-3-methanol (ortholog); N-acetyl-L-cysteine (ortholog); N-nitrosodiethylamine (ortholog) X X X q22.1 100743491 100764612 + 100224697 100245820 + 100969708 100991089 + 6480464 12477932;23128241 392509 H0YH34;J3KPB3;Q5H913 ABBA01044923;ABBA01064108;ABBA01064109;ABBA01064110;AK301813;AMYH02040061;AW118931;BC140808;BC144603;CD300373;CH471115;DB727708;DC426731;DY655154;NM_001162491;NR_103708;NR_103709;XM_006724648;XM_006724649;XM_006724650;Z97985 AAI40809;AAI44604;BAG63262;EAX02829;NP_001155963;Q5H913;XP_006724711;XP_006724712;XP_006724713 Hs.147237 2125106 DXS7529 ARL13;dJ341D10.2 ADP-ribosylation factor-like 13;ADP-ribosylation factor-like protein 13A;OTTHUMP00000023662;OTTHUMP00000226635 protein-coding ENSG00000174225 HGNC:31709 18526 VALIDATED 732961 ARL1 ADP-ribosylation factor-like 1 The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] 12 12 12 q23.2 101452210 101466869 - 101786894 101802192 - 101393116 101408400 - 1580863;6480464 10318838;11076863;11230166;11256614;11303027;11792819;12477932;12972563;14580338;14702039;15269279;15489334;15489336;16381901;17127620;17314511;17342744;17353931;19224922;19703403;21139048;21145461;21239483;21890473;21906983;22678362;22679020;23125841;23345439;23956138;24337577;24457600;7814376;8798635;9624189 400 B4DZG7;F8VP63;F8VP99;F8VYN9;F8W1Z8;P40616 ABBA01053244;AC063948;AF493887;AI802608;AK001489;AK299062;AK301701;AK302911;AK311793;AL701988;AMYH02027071;BC007000;BT007260;BX537387;CD686919;CH471054;CK822904;DC343685;L28997;NM_001177;NM_001301068;XM_005268869 AAC37567;AAH07000;AAM12601;AAP35924;ABM83974;ABM87294;BAG34736;BAG61128;BAG63173;BAG64079;CAD97629;CAL38716;EAW97657;EAW97658;EAW97659;EAW97660;NP_001168;NP_001287997;P40616;XP_005268926 Hs.372616;Hs.732900 1680984;1683811;2119862;2176880 D12S1419;RH93493;RH98475;STS-N98729 ARFL1 ADP-ribosylation factor-like protein 1;OTTHUMP00000243366;OTTHUMP00000243367;OTTHUMP00000243368;OTTHUMP00000243370;OTTHUMP00000243371 APPROVED protein-coding ENSG00000120805 HGNC:692 04574 603425 REVIEWED 1349356 ARL13B ADP-ribosylation factor-like 13B This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 3 3 3 q11.1 92082477 92158408 + 93698983 93774522 + 93980139 94055678 + 6480464;7240710;8554872;8699517 12477932;15314642;15489334;17646400;18554500;18674751;20231383;20301500;20301743;21068128;21139048;21906983;23000965;23128241;23150559;23153492;23223633;23548655;24168557;24250222;24339792 200894 B4DRI8;C9J887;F8W837;F8WAY0;F8WBR2;Q3SXY8 AA775026;ABBA01026969;ABBA01026970;ABBA01026971;AC117474;AC130896;AC245469;AK296994;AK299284;AL713789;BC015439;BC031093;BC062993;BC073842;BC094725;BC104033;BC104034;BC104035;BC104036;BI821381;CH471052;CR936753;CR936756;CR936763;NG_017076;NM_001174150;NM_001174151;NM_144996;NM_182896;NR_033427;XM_006713531;XM_006713532;XM_006713533;XM_006713534 AAH94725;AAI04036;AAI04037;ACE86811;ACE87498;ACE87851;ACT64375;BAG59533;BAG61300;CAD28544;EAW79897;EAW79898;EAW79899;EAW79900;EAW79901;NP_001167621;NP_001167622;NP_659433;NP_878899;Q3SXY8;XP_006713594;XP_006713595;XP_006713596;XP_006713597 Hs.533086 1682888 RH48040 ARL2L1;DKFZp686E2075;DKFZp686L2472;DKFZp686M2074;DKFZp761H079;JBTS8;MGC120611;MGC120612 ADP-ribosylation factor-like 2-like 1;ADP-ribosylation factor-like protein 13B;ARL2-like protein 1;OTTHUMP00000213855;OTTHUMP00000213858;OTTHUMP00000213859 APPROVED protein-coding ENSG00000169379 HGNC:25419 12334 608922;612291 REVIEWED 6771193 ARL14EPL ADP-ribosylation factor-like 14 effector protein-like 5 5 5 q23.1 111335555 111343040 + 115387163 115394827 + 116051466 116059130 + 10737800 644100 P0DKL9 ABBA01069028;AC034236;AMYH02012011;BF993117;DN930361;DN930362;DT932734;NM_001195581 NP_001182510;P0DKL9 Hs.730043;Hs.98288 1780908 bac53227S ARL14 effector protein-like;uncharacterized protein LOC644100 protein-coding HGNC:44201 VALIDATED 1602076 ARL14EP ADP-ribosylation factor-like 14 effector protein The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014] 11 11 11 p14.1 30491042 30505559 + 30344649 30359165 + 30323102 30337618 + 6480464 10568747;12477932;14702039;15489334;17207965;21139048;21458045;21890473;21906983;21963094;21987572 120534 E9PRK7;Q8N8R7 ABBA01060937;AK096287;AK127509;AL356440;AMYH02024532;AV714521;BC047775;BM674118;BP341330;BX647617;CH471064;CS300570;KF455353;NG_034234;NM_152316;XM_005252792 AAH47775;ADQ33112;BAC04747;CAI46092;CAK32234;EAW68259;NP_689529;Q8N8R7;XP_005252849 Hs.502208 1669315;1685664;1713381;2143511;5020092 RH119546;RH40032;SHGC-132872;SHGC-53867;WI-17439 ARF7EP;C11orf46;FLJ38968;dJ299F11.1 ARF7 effector protein;ARL14 effector protein;OTTHUMP00000232037;hypothetical protein LOC120534;uncharacterized protein C11orf46 APPROVED protein-coding HGNC:26798 08796 612295 REVIEWED 1349632 ARL14 ADP-ribosylation factor-like 14 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic vesicle (inferred); INTERACTS WITH aflatoxin B1; calcitriol; formaldehyde 3 3 3 q25.33 158816951 158818239 + 160394948 160396236 + 160677160 160678448 + 6480464;8554872 12477932;14702039;15367757;15489334;15761153;16341674;19458352;21988832 80117 Q8N4G2 ABBA01058793;AC069224;AK026248;AMYH02008025;BC034354;BM760777;CH471052;NM_025047 AAH34354;ADZ16082;BAB15411;EAW78629;NP_079323;Q8N4G2 Hs.287702 ARF7;FLJ22595 ADP-ribosylation factor 7;ADP-ribosylation factor-like protein 14;OTTHUMP00000213879 protein-coding ENSG00000179674 HGNC:22974 07998 614439 VALIDATED 1601700 ARL16 ADP-ribosylation factor-like 16 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN intracellular (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 7,12-dimethyltetraphene (ortholog) 17 17 17 q25.3 76293146 76295876 - 79648224 79650954 - 81681194 81683924 - 6480464 12477932;14702039;15489334;21233210;21906983;24250222 339231 I3L196;I3L1P0;I3L4Z1;I3L4Z7;Q0P5N6 ABBA01032159;AC139530;AK095847;AK303526;AK304718;AMYH02034134;BC029633;BC042380;BC063687;BC105076;BC105078;NM_001040025 AAI05077;AAI05079;ADR82863;BAG64554;BAG65482;NP_001035114;Q0P5N6 Hs.658789 5037552 D8S2279 ADP-ribosylation factor-like protein 16 protein-coding ENSG00000214087 HGNC:27902 VALIDATED 1602487 ARL17A ADP-ribosylation factor-like 17A ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN protein transport (inferred); small GTPase mediated signal transduction (inferred); vesicle-mediated transport (inferred); FOUND IN Golgi apparatus (inferred); intracellular (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; valproic acid 17 17 17 q21.31 57320187 57332531 + 44577184 44657155 - 46499818 46579786 - 6480464 12477932;15489334;16344560;22505724 51326 A8K0M5;I3L1V5;I3L2E4;Q8IVW1 AB209344;ABBA01000577;ABBA01003835;AC138645;AC243627;AC243899;AF086297;AF208864;AF493886;AK289590;AK315857;BC000924;BC020869;BC030570;BC041803;BC071681;BX102203;BX537922;BX647266;CA449330;DA761795;DA979569;DB027627;DB065209;DB241677;HG509340;HY151357;NM_001113738;NM_001288811;NM_001288812;NM_001288813;NM_016632;XM_005257439;XM_005257440;XM_005257441;XM_006725627;XM_006725628;XM_006725629;XM_006725630;XR_429895 AAF64278;AAH00924;AAH30570;AAH41803;AAM12600;BAD92581;BAF82279;BAF98748;NP_001107210;NP_001275740;NP_001275741;NP_001275742;NP_057716;XP_005257496;XP_005257497;XP_005257498;XP_006725690;XP_006725691;XP_006725692;XP_006725693 Hs.559259;Hs.720599;Hs.720602;Hs.733127 1743291;1774779;1851494;2151297;5127432 D17S1689;GDB:314381;SHGC-57505;SHGC-58364;STS-AA029927 ARF1P2;ARL17P1;RP11-927P21.1 ADP-ribosylation factor 1 pseudogene 2;ADP-ribosylation factor 7;ADP-ribosylation factor-like 17 pseudogene 1;ADP-ribosylation factor-like 17-like;OTTHUMP00000163711 APPROVED protein-coding ENSG00000185829 HGNC:24096 17424 VALIDATED 1323226 ARL15 ADP-ribosylation factor-like 15 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 5 5 5 p15.2 50134233 50560002 - 53180578 53606403 - 53884748 54310573 - 737633;6480464 12477932 14702039;15489334;16169070;17207965;19056867;20011104;20379614;20686565;20950786;21139048;21890473;21906983;22479202;23000965;23793025;23918589;24097068 54622 Q9NXU5;R4GN67 ABBA01015723;ABBA01015724;ABBA01015725;ABBA01015726;AC008873;AC008935;AC016601;AC024571;AC025175;AC034246;AK000058;AK290886;AK311482;AMYH02011297;AMYH02011298;AMYH02011299;AMYH02011300;AMYH02011301;AMYH02011302;BC026093;CH471123;CR457225;KF457914;NM_019087;XM_005248549;XM_005248550;XM_006714654 AAH26093;ADQ32165;BAA90915;BAF83575;CAG33506;EAW54889;EAW54890;EAW54891;NP_061960;Q9NXU5;XP_005248606;XP_005248607;XP_006714717 Hs.659125 1336180;1337541;1341059;1650750;1650800;1655640;1660507;1663491;1670393;1677346;1686324;1691032;1706176;1719451;1721137;1726861;1729579;1752441;2109055;2113784;2122585;2123881;2163144;7186735;7187457 A101YE9;AB055363;AFM254wf1;ARFRP2_9807;D5S1508;D5S1968;D5S1969;D5S2423;D5S260;D5S453E;D5S628;G59403;G62673;L28283;L28354;RH123444;RH46502;RH75399;SGC31091;SHGC-106389;SHGC-34222;SHGC-80614;STS-N22913 ARFRP2;FLJ20051 ADP-ribosylation factor related protein 2;ADP-ribosylation factor-like protein 15;ADP-ribosylation factor-related protein 2;ARF-related protein 2;OTTHUMP00000230684;OTTHUMP00000230685 protein-coding ENSG00000185305 HGNC:25945 12471 VALIDATED 7370113 ARL2-SNX15 ARL2-SNX15 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring ADP-ribosylation factor-like 2 (ARL2) and sorting nexin 15 (SNX15) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 11 11 q 64781585 64808044 + 65014113 65040572 + 6480464;8554872 14702039;20967262 100528018 ABBA01024137;ABBA01024138;AK096447;AMYH02024949;AMYH02024950;AP000436;AP003068;NR_037650 BAG53293 Hs.80132 1664377 RH11499 ncrna HGNC:49197 VALIDATED 735885 ARL2 ADP-ribosylation factor-like 2 This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008] 11 11 11 q13 62107517 62115588 + 64781585 64789657 + 65014113 65022185 + 1580863;6480464 10831612;11809823;11847227;11980706;12015966;12477932;12527357;12912990;15146197;15489334;16525022;17188265;17646400;17704193;18234692;18588884;18781797;18818514;19368893;19471022;19738201;20360068;20740604;20972266;21139048;21199864;21890473;21906983;21988832;22002721;22505724;22863883;22939629;23000965;23807224;24816145;8125298;8415637;9253601 402 B4DGG0;P36404;Q53YD8 ABBA01024138;AF493888;AI076058;AI631767;AK223502;AK294580;AMYH02024949;AP000436;BC002530;BG706294;BT006674;CH471076;CN338497;L13687;NM_001199745;NM_001667 AAC37606;AAH02530;AAM12602;AAP35320;ACE87082;ACE87762;BAD97222;BAG57771;EAW74332;EAW74333;NP_001186674;NP_001658;P36404 Hs.502836 1338740;1782486;1857755;2157053;5021872;5022651;5037552 D11S2921;D11S4192;D11S4597;D8S2279;G33095;SHGC-172584;sY3084 ARFL2 ADP-ribosylation factor-like protein 2;OTTHUMP00000230835;OTTHUMP00000230836;OTTHUMP00000230838 APPROVED protein-coding ENSG00000213465 HGNC:693 11869 601175 VALIDATED 1344137 ARL2BP ADP-ribosylation factor-like 2 binding protein ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008] 16 16 16 q13 41778726 41787233 + 57279037 57287547 + 57245126 57253633 + 1580863;6480464;8699517;7240710;8554872 10488091;11303027;11809823;11847227;12477932;16525022;18234692;18981177;19322201;19368893;20936779;21139048;21665939;21833473;21901094;21988832;22532868;22745590;23685147;23849777;24250222;24899173 23568 H3BM52;H3BU49;Q9Y2Y0 ABBA01025265;ABBA01025266;AC009090;AF126062;AK075050;AK298758;AK311018;AMYH02032101;BC003087;BC094878;BF590083;CH471092;CQ783045;NG_033905;NM_012106 AAD20633;AAH03087;AAH94878;BAG52057;BAG60900;CAF86252;EAW82913;EAW82914;NP_036238;Q9Y2Y0 Hs.632873;Hs.719024 1647702;1754769;1767550 G06868;SHGC-33383;STS-W69175 BART;BART1;RP66 ADP-ribosylation factor-like protein 2-binding protein;ARF-like 2-binding protein;ARL2-binding protein;Arf-like 2 binding protein BART1;OTTHUMP00000164663;binder of ARF2 protein 1;binder of Arl Two;binder of Arl2;retinitis pigmentosa 66 (autosomal recessive) APPROVED protein-coding ENSG00000102931 HGNC:17146 09808 615407;615434 REVIEWED 1605146 ARL17B ADP-ribosylation factor-like 17B ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN protein transport (inferred); small GTPase mediated signal transduction (inferred); vesicle-mediated transport (inferred); FOUND IN Golgi apparatus (inferred); intracellular (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 7,12-dimethyltetraphene (ortholog) 17 17 q21.31 44351550 44439416 - 46274184 46362046 - 6480464 11181995;12477932;14702039;15489334;19608861;21963094;22505724 100506084 A8K0M5;I3L1A0;I3L1V5;I3L2E4;I3L3L1;Q8IVW1 AB209344;ABBA01003822;ABBA01041111;AC005829;AC139026;AC217777;AF086297;AF208864;AF493886;AK289590;AK315857;BC000924;BC020869;BC030570;BC041803;BC071681;BX537922;BX647266;CH878255;NM_001039083;NM_001103154;XM_005256917;XM_005256918;XR_429866 AAF64278;AAH00924;AAH30570;AAH41803;AAM12600;BAD92581;BAF82279;BAF98748;EAW50328;EAW50329;NP_001034172;NP_001096624;Q8IVW1;XP_005256974;XP_005256975 Hs.559259;Hs.720599;Hs.720602;Hs.733127 2151297;5022576;5127432 D1S1361;SHGC-58364;STS-AA029927 ARL17;ARL17A;FLJ76374;FLJ79506;MGC45095 ADP-ribosylation factor 7;ADP-ribosylation factor-like 17;ADP-ribosylation factor-like protein 17 APPROVED protein-coding ENSG00000228696 HGNC:32387 VALIDATED 6480914 ARL2BPP10 ADP-ribosylation factor-like 2 binding protein pseudogene 10 22 22 18585223 18586415 - 18102457 18103649 - 100874449 ABBA01001421;AC016027;AMYH02038020;NG_032307 pseudo HGNC:39454 INFERRED 1349460 ARL2BPP1 ADP-ribosylation factor-like 2 binding protein pseudogene 1 18 18 q23 74415819 74416210 - 76703863 76704254 - 399666 ABBA01015283;AC110743;AMYH02035018;NG_028708 HsT2883 pseudo HGNC:17742 INFERRED 1346532 ARL2BPP2 ADP-ribosylation factor-like 2 binding protein pseudogene 2 12 12 12 q13.13 52803394 52803905 + 53157166 53157677 + 52763382 52763893 + 399667;643898 ABBA01008295;AC068988;AMYH02026500;NG_030318 ARL2BPL;bcm1040 APPROVED pseudo HGNC:31036 INFERRED 6481008 ARL2BPP5 ADP-ribosylation factor-like 2 binding protein pseudogene 5 5 5 162188839 162189319 + 162761833 162762313 + 100874420 ABBA01044193;AC010602;AMYH02012626;NG_032305 pseudo HGNC:39449 INFERRED 4891560 ARL2BPP4 ADP-ribosylation factor-like 2 binding protein pseudogene 4 5 5 5 q23.3 125995443 125995972 + 129865094 129865786 + 130529401 130530093 + 17903298 100130265 ABBA01068841;AC005741;AMYH02012190;NG_028952 pseudo HGNC:39448 INFERRED 4891571 ARL2BPP3 ADP-ribosylation factor-like 2 binding protein pseudogene 3 13 13 13 q13.3 18435830 18436477 + 37368621 37369187 + 36794484 36795050 + 646879 ABBA01021354;AL159973;AMYH02027869;CH471075;NG_022943 EAX08569 1737323;1755361;1778925 D13S927;SHGC-142244;WI-22737 pseudo HGNC:39447 INFERRED 6481011 ARL2BPP6 ADP-ribosylation factor-like 2 binding protein pseudogene 6 5 5 174717734 174718255 + 175290731 175291252 + 100874421 ABBA01043996;AC020903;AMYH02012799;NG_032306 pseudo HGNC:39450 INFERRED 4891556 ARL2BPP8 ADP-ribosylation factor-like 2 binding protein pseudogene 8 17 17 17 q22 49293770 49294257 - 52830236 52832038 - 54752875 54754677 - 100131784 ABBA01041283;AC005951;AMYH02033644;NG_028975 pseudo HGNC:39452 INFERRED 4891557 ARL2BPP7 ADP-ribosylation factor-like 2 binding protein pseudogene 7 9 9 9 q31.1 75321286 75322432 - 104816145 104818108 - 102053863 102055826 - 100131629 ABBA01042868;AL596454;AMYH02021356;NG_028958 pseudo HGNC:39451 INFERRED 4891555 ARL2BPP9 ADP-ribosylation factor-like 2 binding protein pseudogene 9 17 17 17 77125237 77126015 - 80534490 80535268 - 82576614 82577392 - 100421675 ABBA01019689;AC124283;AMYH02034161;NG_026204 pseudo HGNC:39453 INFERRED 734227 ARL3 ADP-ribosylation factor-like 3 ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008] 10 10 10 q23.3 98174570 98215252 - 104433484 104474190 - 102673727 102714433 - 68742;1580863;6480464 8034651 10072593;10518933;11188688;11303027;11847227;11980706;12107411;12417528;12477932;15489334;16169070;16385451;16472755;16525022;17646400;18029348;18588884;19056867;20106869;21139048;21890473;21906983;22002721;22960633;23535732;23548655;24250222;24816145;7566098;8619474;8889548;9110174 403 P36405 AA325516;ABBA01063137;ABBA01063138;ABBA01063139;ABBA01063140;ABBA01063141;AF038193;AF493889;AK312525;AL391121;AMYH02023702;AMYH02023703;AMYH02023704;AW269939;BC008032;BC009841;BC025759;BE780186;BM661686;BQ638232;CD245572;CH471066;CR407637;NM_004311;U07151 AAA21654;AAH09841;AAM12603;ABM84157;ABM87559;BAG35424;CAG28565;EAW49678;NP_004302;P36405 Hs.182215 1653072;1656117;1765215;1776566;2110995;2111208;2113092;2124887 A002G45;D10S2455;D10S476E;D10S669E;RH11266;RH41912;SHGC-12905;SHGC-148709 ARFL3 ADP-ribosylation factor-like protein 3;ARF-like 3;OTTHUMP00000020373;adp-ribosylation-like 3 APPROVED protein-coding ENSG00000138175 HGNC:694 05260 604695 REVIEWED 1345856 ARL4C ADP-ribosylation factor-like 4C ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 229122450 229126462 - 235401685 235405721 - 234493041 234497053 - 1580863;6480464 10462049;12477932;15147902;15489334;16713569;17398095;18029348;19409876;20686608;21187453;21832049;21890473;21906983;21963094;23000965;24165912;24816145 10123 P56559 AB016811;ABBA01001958;AC097713;AC105145;AF493892;AJ579850;AJ579851;AK314119;AMYH02006021;BC001051;BC089043;BM541491;BM904613;BT019378;BT019379;BU844902;CA413100;CD358707;CH471063;HI179044;NM_001282431;NM_005737;Y17804 AAH89043;AAM12606;AAV38185;AAV38186;AAX93114;ACE86833;ACE87519;BAA75473;BAG36810;CAB44355;CAE30322;CAE30323;CBX53831;EAW71073;EAW71074;NP_001269360;NP_005728;P56559 Hs.111554;Hs.730678 1739221;2151987;5096620 D2S1923;STS-T91940;WI-15413 ARL7;LAK ADP ribosylation factor-like protein 7;ADP-ribosylation factor-like 7;ADP-ribosylation factor-like protein 4C;ADP-ribosylation factor-like protein 7;ADP-ribosylation factor-like protein LAK;OTTHUMP00000164395 APPROVED protein-coding ENSG00000188042 HGNC:698 11988 604787 REVIEWED 1315741 ARL4D ADP-ribosylation factor-like 4D ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38186886 38189037 + 41476353 41478504 + 43398985 43401136 + 1580863;6480464 10462049;10508919;12472661;12477932;15258860;15314642;15489334;15761153;16169070;17398095;21832049;21890473;21906983;21963094;22927989;23000965;7545954;7581362;7590735;8889548 379 P49703 AB060692;ABBA01028417;AC087650;AK314951;AMYH02033458;BC000043;BI547763;BM682844;BU729196;CH471178;L38490;NM_001661 AAA57126;AAH00043;BAB91080;BAG37456;EAW51681;EAW51682;NP_001652;P49703 Hs.183153;Hs.709866 1734046;1853594;2107845;2118933 ARF4L_8207;D17S1343;RH70270;SHGC-11073 ARF4L;ARL6 ADP-ribosylation factor 4-like;ADP-ribosylation factor-like 6;ADP-ribosylation factor-like protein 4D;ADP-ribosylation factor-like protein 4L APPROVED protein-coding ENSG00000175906 HGNC:656 02842 600732 REVIEWED 1604399 ARL4A ADP-ribosylation factor-like 4A ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p21.3 12704156 12708234 + 12726452 12730559 + 12686827 12690934 + 6480464 10462049;10756096;10980193;12477932;12690205;15489334;17398095;18240926;21906983;21930703;22159419;7829101 10124 C9J7Q9;P40617 ABBA01056578;AC011891;AF493890;AK313233;AMYH02015248;AU076407;AW022162;AW079064;BC001111;BC003027;BC039123;BI828864;BM550177;BQ948724;BU786406;CD049640;CH236948;CH471073;DB451189;DB472672;NM_001037164;NM_001195396;NM_005738;NM_212460;U73960 AAB39713;AAH01111;AAH03027;AAM12604;BAG36044;EAL24295;EAW93650;EAW93651;EAW93652;NP_001032241;NP_001182325;NP_005729;NP_997625;P40617 Hs.245540 1645062;5113627 RH48668;RH80713 ARL4 ADP-ribosylation factor-like 4;ADP-ribosylation factor-like protein 4A;OTTHUMP00000155200;OTTHUMP00000155201;OTTHUMP00000201574;OTTHUMP00000201575;OTTHUMP00000201576;OTTHUMP00000201577 APPROVED protein-coding ENSG00000122644 HGNC:695 11987 604786 REVIEWED 1605276 ARL4P2 ADP-ribosylation factor-like 4 pseudogene 2 4 4 4 p14 41230854 41232002 + 40787905 40789053 + 40785888 40787036 + 152709 ABBA01014257;AC131953;AMYH02009085;NG_005394 pseudo HGNC:32379 INFERRED 6769531 ARL5AP1 ADP-ribosylation factor-like 5A pseudogene 1 X X X q24 118772176 118775734 - 118317445 118321005 - 119183482 119187042 - 641382 ABBA01036710;AL441887;AMYH02040326;NG_005344 RP11-320L24.1-001 pseudo HGNC:43933 INFERRED 6769533 ARL5AP4 ADP-ribosylation factor-like 5A pseudogene 4 22 22 22 q11.2 8886212 8893494 + 25081822 25089151 + 24685855 24693184 + 641379 ABBA01055149;AMYH02038146;AP000357;AP000358;NG_005341 pseudo HGNC:43936 INFERRED 6769532 ARL5AP2 ADP-ribosylation factor-like 5A pseudogene 2 10 10 10 q24.2 94507766 94510829 - 100770912 100773979 - 99011155 99014222 - 641380 ABBA01063257;AL590036;AMYH02023628;NG_005342;NG_023416 RP11-379D21.2-001 pseudo HGNC:43937 INFERRED 1354501 ARL4P ADP-ribosylation factor-like 4 pseudogene 10 10 10 q21.2 55709627 55710792 + 62443989 62445154 + 60684231 60685396 + 387684 ABBA01019464;AC022390;AMYH02023175;NG_011408;NG_029917 2106437 ARL4B__4370 ARL4B pseudo HGNC:17741 INFERRED 7207694 ARL5B-AS1 ARL5B antisense RNA 1 10 10 p12.31 18941162 18948214 - 18654866 18659238 - 12477932;16344560 102724059 AL512641;AL698095;BC047402;BU860850;DA841900;HG502721;XR_428678 ncrna HGNC:44882 MODEL 1346010 ARL5A ADP-ribosylation factor-like 5A The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] 2 2 2 q23.3 146272160 146299690 - 152657480 152685009 - 151800966 151828495 - 1580863;6480464 10931946;12414990;12450215;12477932;15489334;15896705;19322201;21832049;24250222 26225 F8WER2;Q9Y689 ABBA01004781;AC097448;AF087889;AF100740;AF493891;AK292714;AK298937;AMYH02004987;BC001254;BG707385;BM800611;BQ216648;BT009829;BX461356;CH471058;CX867116;NM_001037174;NM_012097;NM_177985 AAD40383;AAH01254;AAM12605;AAP88831;AAP97188;AAX82013;ABM82119;ABM85302;BAF85403;BAG61039;EAX11495;EAX11496;EAX11497;NP_001032251;NP_036229;NP_817114;Q9Y689 Hs.470233 5112175 RH102125 ARFLP5;ARL5 ADP-ribosylation factor-like 5;ADP-ribosylation factor-like protein 5;ADP-ribosylation factor-like protein 5A;OTTHUMP00000162713;OTTHUMP00000207220;OTTHUMP00000207221 APPROVED protein-coding HGNC:696 12343 608960 REVIEWED 1316723 ARL5C ADP-ribosylation factor-like 5C ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN intracellular (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3H-1,2-dithiole-3-thione (ortholog); aflatoxin B1 (ortholog) 17 17 17 q12 33974029 33983324 - 37313147 37322414 - 39156894 39166161 - 6480464 11181995;16625196 390790 A6NH57;K7EM39 ABBA01031883;AC004408;AK310706;AMYH02033373;CH471152;NM_001143968 A6NH57;EAW60555;NP_001137440 Hs.568007 5016478;5017170;5022578 D1S1423;GDB:434012;L29953 ARL12;FLJ17748 ADP-ribosylation factor-like 12;ADP-ribosylation factor-like protein 12;putative ADP-ribosylation factor-like protein 5C protein-coding HGNC:31111 PROVISIONAL 1313675 ARL5B ADP-ribosylation factor-like 5B ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010] 10 10 10 p12.31 18633827 18652457 + 18948264 18970568 + 18659335 18681639 + 737633;1580863;6480464 12477932 12853149;14702039;15146197;15489334;15761153;16385451;20932310;21139048;21658281;21890473;21906983;22172677;22245584;22505724 221079 B0YIW9;Q96KC2 ABBA01034535;AF494061;AK022915;AK027275;AL133611;AL512641;AL700452;AMYH02022380;AMYH02022381;AMYH02022382;BC024163;CH471072;CN301486;EF444954;NM_178815;XM_005252400;XM_005252401 AAH24163;AAM74076;ABM84092;ABM87463;ACA05947;BAB55011;EAW86190;NP_848930;Q96KC2;XP_005252457;XP_005252458 Hs.25362;Hs.594569 ARL8 ADP-ribosylation factor-like 8;ADP-ribosylation factor-like protein 5B;ADP-ribosylation factor-like protein 8;ADP-ribosylation-like factor 8;OTTHUMP00000019260 APPROVED protein-coding ENSG00000165997 HGNC:23052 12328 608909 VALIDATED 1342975 ARL6IP1P1 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 1 14 14 14 q11.2 1981321 1981927 - 22115933 22118621 - 21647717 21650405 - 100288702 ABBA01061265;AC243972;AE000521;NG_022838 ARL6IPP1 APPROVED pseudo HGNC:23178 INFERRED 7205015 ARL6IP1P2 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 2 10 10 10 p11.21 37049964 37050528 + 37283951 37284515 + 36995023 36995587 + 646348 ABBA01033308;AL591105;AMYH02022647;NG_022169 pseudo HGNC:44971 INFERRED 1345801 ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 INVOLVED IN cell death (inferred); cotranslational protein targeting to membrane (inferred); FOUND IN membrane; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid 16 16 16 p12-p11.2 17956727 17966592 - 18802991 18812894 - 18791669 18801535 - 1580863;6480464 10508919;10995579;12477932;12754298;14702039;15489334;16169070;16189514;17207965;18029348;19019082;19060904;19322201;19946888;20213509;20372863;21139048;21890473;21900206;21906983;21963094;21987572;22053931;22505724;23000965;24076029;24482476;24816145;25015289;7584044 23204 B7Z6S5;F5GXP4;H3BPJ2;H3BS91;H3BTX6;Q15041 ABBA01028242;AC138811;AK291137;AK300825;AK300869;AK301636;AK307315;AK308092;AK308744;AMYH02031628;BC010281;BX648446;CH471186;D31885;NM_015161 AAH10281;ADQ32858;BAA06683;BAF83826;BAH13355;BAH13361;BAH13527;EAW50257;EAW50258;NP_055976;Q15041 Hs.634882 1684224;1848029 D16S3202;RH25299 AIP1;ARL6IP;KIAA0069;SPG61;aip-1 ADP-ribosylation factor-like protein 6-interacting protein 1;ARL-6-interacting protein 1;ARMER;OTTHUMP00000162056;apoptotic regulator in the membrane of the endoplasmic reticulum protein-coding ENSG00000170540 HGNC:697 09641 607669 PROVISIONAL 1313618 ARL6 ADP-ribosylation factor-like 6 The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). Alternative splicing results in multiple transcript variants of this gene. A vision-specific transcript encoding a different protein has been described (PMID: 20333246). [provided by RefSeq, May 2013] 3 3 3 q11.2 95873167 95906953 + 97483365 97520086 + 97764521 97801242 + 1578724;1578725;1580863;6480464;7240710;8554872;8699517 10508919;15314642 10462049;11076863;11230166;12429613;12477932;15258860;15489334;15489336;16246095;16381901;17646400;19056867;19077438;19236846;19478329;19913121;20142850;20207729;20301537;20301590;20301743;20333246;20628086;20801516;21139048;21282186;23219996;23548655;7987310;8889548 84100 C9IZ13;H7C5H6;Q9H0F7 ABBA01026940;AC110491;AK292958;AK310829;AL136815;AL138043;AMYH02007284;BC024239;BG722744;BM705017;BU183949;BU607306;CH471052;DC323603;NG_008119;NM_001278293;NM_032146;NM_177976;NR_103511;XM_006713779;XM_006713780;XM_006713781;XM_006713782;XM_006713783;XR_427382 AAH24239;BAF85647;CAB66749;CAL37540;CAL38233;EAW79880;EAW79881;EAW79882;EAW79883;EAW79884;NP_001265222;NP_115522;NP_816931;Q9H0F7;XP_006713842;XP_006713843;XP_006713844;XP_006713845;XP_006713846 Hs.373801 BBS3;MGC32934;RP55 ADP-ribosylation factor-like protein 6;OTTHUMP00000214308;OTTHUMP00000214309;OTTHUMP00000214310;bardet-Biedl syndrome 3 protein APPROVED protein-coding ENSG00000113966 HGNC:13210 10588 209900;608845;613575 REVIEWED 7205183 ARL6IP1P3 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 3 11 11 11 q14.1 77673406 77673965 - 80364469 80365028 - 80653425 80653984 - 729790 ABBA01017390;AMYH02025173;AP002759;NG_021793 pseudo HGNC:44972 INFERRED 1348114 ARL8A ADP-ribosylation factor-like 8A ENCODES a protein that exhibits GTP binding; alpha-tubulin binding (ortholog); beta-tubulin binding (ortholog); INVOLVED IN chromosome segregation (ortholog); FOUND IN cytoplasm; extracellular vesicular exosome; lysosomal membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 1 1 1 q32.1 175225835 175237724 - 202102532 202113871 - 202133404 202144743 - 737633;69939;1580863;6480464 12477932;8889548 10737800;14871887;15331635;15342556;15489334;16537643;16710414;17207965;17897319;19056867;19946888;21139048;21890473;21906983;22053931;23000965 127829 Q96BM9 AB118752;ABBA01027509;ABBA01027510;AK127138;AK313122;AL592300;AMYH02002491;AMYH02002492;AW090198;BC015408;BC053358;BC069053;BG876867;BM548962;BM688638;BM999456;BP325806;BU727024;BX421006;CH471067;NM_001256129;NM_138795 AAH15408;ADQ32803;BAD23993;BAG35942;BAG54442;EAW91395;EAW91396;EAW91397;EAW91399;NP_001243058;NP_620150;Q96BM9 Hs.497399;Hs.604697 1761919;2218252 ARL10B_4367;SHGC-145852 ARL10B;FLJ45195;GIE2 ADP-ribosylation factor-like 10B;ADP-ribosylation factor-like protein 10B;ADP-ribosylation factor-like protein 8A;OTTHUMP00000034102;novel small G protein indispensable for equal chromosome segregation 2;small G protein indispensable for equal chromosome segregation 2 protein-coding ENSG00000143862 HGNC:25192 09807 VALIDATED 1344465 ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5 Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008] 3 3 3 p14 69062198 69083349 + 69134090 69155239 + 69084939 69106088 + 1299537;1580863;6480464 11242046 10508919;11042152;12119102;12438930;12477932;12562531;12665801;12761501;14761432;15489334;15757671;15864752;16303743;16331563;16430862;16468075;16481131;16638297;16640902;16766476;16922813;17255364;17336041;17479401;17479402;17479403;17646425;18029348;18167356;18387645;18684713;19080375;19208635;19946888;20201924;21103663;21139048;21890473;21906983;21987572;22357531;22433565;22452940;22505724;22939629;23000965;23142642;23169062;23246001;23285001;23461062;24064223;24072772;24157826;24816145;25015289;8125298 10550 C9JQU6;F8WF33;F8WF90;O75915 AB014765;AB052638;AB097051;ABBA01030898;AC092060;AF070523;AF115965;AF125530;AF161476;AK074612;AK223566;AK301637;AK312731;AMYH02007013;AY102608;BC005143;BC020797;BC107899;BG483337;BU149630;CH471055;NM_006407 AAC64360;AAF17224;AAF29091;AAH05143;AAH20797;AAM28950;AAP97237;BAC66462;BAC77404;BAD83603;BAD97286;BAG35602;BAG51976;BAG63118;EAW65473;EAW65474;NP_006398;O75915 Hs.518060;Hs.745255 1663318;1670622;1672068 SHGC-33714;SHGC-52890;SHGC-77077 DERP11;GTRAP3-18;HSPC127;JM5;JWA;PRAF3;aip-5;hp22;jmx ADP-ribosylation factor-like protein 6-interacting protein 5;ADP-ribosylation-like factor 6 interacting protein 5;ARL-6-interacting protein 5;OTTHUMP00000213432;PRA1 domain family 3;PRA1 family protein 3;addicsin;cytoskeleton related vitamin A responsive protein;cytoskeleton-related vitamin A-responsive protein;dermal papilla derived protein 11;dermal papilla-derived protein 11;glutamate transporter EAAC1-interacting protein;glutamate transporter EEAC1-associated protein;prenylated Rab acceptor protein 2;putative MAPK activating protein PM27;putative MAPK-activating protein PM27 APPROVED protein-coding ENSG00000144746 HGNC:16937 09303 605709 REVIEWED 1316976 ARL6IP4 ADP-ribosylation factor-like 6 interacting protein 4 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; cobalt dichloride 12 12 12 q24.31 123057673 123060253 + 123464607 123467460 + 122980060 122982913 + 1580863;6480464 10508919;10708573;11884129;12107412;12477932;14702039;20098747;20195357;21963094;22113938;22505724;23602568;23974872;24816145 51329 F5GYV5;F5H7X4;F8WCT1;F8WEP2;H7BZV4;Q66PJ3 AA887283;AB035384;ABBA01060439;AC026362;AF267748;AK027285;AK315759;AMYH02027444;AW189362;BC001958;BC015569;BC015909;BC094839;BQ643520;CD672894;CH471054;DQ099385;EU624490;EU624491;NM_001002251;NM_001002252;NM_001278378;NM_001278379;NM_001278380;NM_016638;NM_018694;NR_103512 AAF76892;AAH01958;AAH15569;AAH15909;AAH94839;AAZ13761;ACF07995;ACF07996;BAA94744;BAG38112;EAW98373;EAW98374;EAW98375;EAW98376;EAW98377;EAW98378;EAW98379;EAW98380;EAW98381;EAW98382;NP_001002251;NP_001002252;NP_001265307;NP_001265308;NP_001265309;NP_057722;NP_061164;Q66PJ3 Hs.103561 1771921;1778694;2176072;5107535 RH48254;RH78153;SGC30324;STS-AA022496 HSP-975;MGC814;SFRS20;SR-15;SR-25;SRp25;SRrp37;aip-4 ADP-ribosylation factor-like protein 6-interacting protein 4;ADP-ribosylation-like factor 6 interacting protein 4;ARL-6-interacting protein 4;HSVI binding protein;HSVI-binding protein;OTTHUMP00000239432;OTTHUMP00000239433;OTTHUMP00000239435;OTTHUMP00000239436;OTTHUMP00000239437;OTTHUMP00000239438;OTTHUMP00000239439;OTTHUMP00000239440;OTTHUMP00000239441;OTTHUMP00000239442;OTTHUMP00000239443;OTTHUMP00000239444;SRp25 nuclear protein;splicing factor SRrp37;splicing factor, arginine/serine-rich 20;splicing regulator SRrp38 APPROVED protein-coding ENSG00000182196 HGNC:18076 09640 607668 VALIDATED 1606161 ARL9 ADP-ribosylation factor-like 9 ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008] 4 4 4 q12 54877789 54896005 + 57371375 57390149 + 56505209 56523983 + 6480464 15033445;18976975 132946 Q6T311 ABBA01003426;AC108215;AC114766;AMYH02009258;AY439003;CH471057;NM_206919;XM_005265719;XM_005265720;XM_006714036 AAI41543;AAI48698;AAS07576;EAX05499;EAX05500;NP_996802;Q6T311;XP_005265776;XP_005265777;XP_006714099 Hs.444449 1335809;1663271;1683705;2135260;2136488;2146733 D4S1075;D4S1507;D4S1518;G19659;RH10468;SHGC-51363 ADP-ribosylation factor-like protein 9 APPROVED protein-coding HGNC:23592 12486 612405 VALIDATED 1347021 ARL6IP6 ADP-ribosylation factor-like 6 interacting protein 6 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; calcitriol 2 2 2 q23.3 147188879 147232317 + 153574407 153617767 + 152717893 152761253 + 6480464 10508919;12477932;14702039;15342556;16344560;17207965;21832049 151188 B3KMZ5;H7C0H7;H7C192;Q8N6S5 AA654338;ABBA01004797;AC079344;AF530059;AK023109;AK094696;AK315657;AMYH02004998;AW967583;BC028741;BC070140;BP200063;BP265220;BX437990;CH471058;CQ834436;CQ834476;DA012142;DA801290;NM_152522;NR_024526;XM_006712325;XM_006712326 AAH28741;AAH70140;AAQ09943;AAX93217;ADQ31833;BAG38023;BAG51157;CAH05433;CAH05453;EAX11475;EAX11476;EAX11477;EAX11478;NP_689735;Q8N6S5;XP_006712388;XP_006712389 Hs.643580;Hs.744874 1734900;2114916;2121992;2131879;2135132;5019813 A009X25;D2S1676E;G32948;RH16515;SHGC-30474;SHGC-57826 AIP-6;MGC33864;PFAAP1 ADP-ribosylation factor-like protein 6-interacting protein 6;ADP-ribosylation-like factor 6 interacting protein 6;ADP-ribosylation-like factor 6-interacting protein 6;ARL-6-interacting protein 6;OTTHUMP00000162728;phosphonoformate immuno-associated protein 1;regulated by phosphonoformate APPROVED protein-coding ENSG00000177917 HGNC:24048 12485 VALIDATED 6482622 ARMC10P1 armadillo repeat containing 10 pseudogene 1 3 3 3 q11.2 92609125 92610233 - 94224382 94226494 - 94505538 94507650 - 389137 ABBA01026967;AC024218;AMYH02007251;NG_012229 pseudo HGNC:43646 INFERRED 1605608 ARMC10 armadillo repeat containing 10 This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011] 7 7 7 q22.1 97523222 97548131 + 102715174 102740210 + 103074727 103099763 + 6480464 12477932;12839973;12853948;14702039;15252450;16303743;17342744;17904127;20379614;20877624;21139048;21906983;8125298 83787 C9J5N7;H7BXM8;H7BXQ8;H7C2M7;Q8N2F6 ABBA01057995;AC007683;AC073127;AC108167;AF275808;AI761577;AK075500;AK095169;AK225082;AK291818;AK301565;AMYH02016449;AY150851;AY150852;AY150853;AY150854;BC003586;BM989172;BQ004061;BQ440425;BU941174;CH471070;CS051331;NG_030014;NM_001161009;NM_001161010;NM_001161011;NM_001161012;NM_001161013;NM_031905;XM_005250621;XM_005250622;XM_005250623;XM_005250624;XM_005250625;XM_005250626;XM_005250627;XM_005250628;XM_006716147 AAH03586;AAN72313;AAN72314;AAN72315;AAN72316;AAS07456;AAS07482;AAS07531;BAC11655;BAF84507;BAG63060;CAI72160;EAW83311;EAW83312;EAW83313;NP_001154481;NP_001154482;NP_001154483;NP_001154484;NP_001154485;NP_114111;Q8N2F6;XP_005250678;XP_005250679;XP_005250680;XP_005250681;XP_005250682;XP_005250683;XP_005250684;XP_005250685;XP_006716210 Hs.287412 2120594;2169083;2180604;2180606;5024761 A005K35;G20289;G27625;RH36905;RH77969 FLJ37850;MGC3195;PNAS-112;PNAS112;PSEC0198;SVH OTTHUMP00000211682;OTTHUMP00000211683;OTTHUMP00000211684;OTTHUMP00000211685;OTTHUMP00000211688;armadillo repeat-containing protein 10;specific splicing variant involved in hepatocarcinogenesis;splicing variant involved in hepatocarcinogenesis protein APPROVED protein-coding ENSG00000170632 HGNC:21706 18133 611864 REVIEWED 1351870 ARL8B ADP-ribosylation factor-like 8B ENCODES a protein that exhibits alpha-tubulin binding; beta-tubulin binding; GDP binding; INVOLVED IN chromosome segregation; FOUND IN cytoplasm; extracellular vesicular exosome; membrane; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper atom; copper(0) 3 3 3 p26.1 5101851 5160484 + 5163930 5222601 + 5122245 5180916 + 737633;1580863;6480464 12477932 14702039;14871887;15331635;15489334;15761153;16169070;16537643;16650381;19056867;19322201;19398576;19946888;21139048;21674799;21802320;21824248;21832049;21890473;21906983;21963094;21987572;21988832;22053931;22505724;22993228;23000965;23166591;24088571;25015289 55207 B4DQT8;F2Z344;F8WAW5;Q9NVJ2 AB118751;ABBA01020458;ABBA01020459;AC021999;AC026202;AF086108;AK001564;AK295465;AK298951;AK303872;AL110242;AMYH02006189;BC013131;BC063125;CH471055;CR457264;NM_018184;XM_005265295 AAH13131;AAH63125;BAA91759;BAD23992;BAG58397;BAG61050;BAG64810;CAG33545;EAW63919;EAW63920;EAW63921;EAW63922;NP_060654;Q9NVJ2;XP_005265352 Hs.250009 1653369;1674888;1687680;1706462;1735084;1735136;1774503;2144971;5113228 1612;D3S2357;D3S2771E;D3S2799E;RH68941;RH98975;SHGC-76669;SHGC-76670;SHGC-81116 ARL10C;FLJ10702;Gie1 ADP-ribosylation factor-like 10C;ADP-ribosylation factor-like protein 10C;ADP-ribosylation factor-like protein 8B;OTTHUMP00000115526;OTTHUMP00000206914;novel small G protein indispensable for equal chromosome segregation 1 protein-coding ENSG00000134108 HGNC:25564 12483 VALIDATED 1343337 ARMC1 armadillo repeat containing 1 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN metal ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; cadmium atom 8 8 8 q13.1 62506147 62537940 - 66514691 66546452 - 65602456 65634217 - 1580863;6480464;8554872 12477932;14702039;15489334;15840729;17207965;19322201;20379614;20877624;21139048;21832049;21963094;21988832;23251661 55156 E5RHK3;E5RJ86;E9PR92;Q9NVT9 AA808041;ABBA01041859;ABBA01041860;ABBA01041861;ABBA01041862;AC055822;AC100814;AK001373;AK024053;AK304463;AL512767;AMYH02018094;AMYH02018095;AX405747;AX876612;BC011607;BC018846;CH471068;DC349250;KF458770;NM_001286702;NM_018120;XM_005251264;XM_006716458 AAH11607;ADQ31864;BAA91656;BAB14803;BAG65279;CAC21684;CAD34854;CAE89353;EAW86880;NP_001273631;NP_060590;Q9NVT9;XP_005251321;XP_006716521 Hs.269542 1657548;1694556;1848633;1853768;2123961;2167142 A004P18;D8S1093;G43227;RH18401;SGC34090;STS-R53749 Arcp;FLJ10511 OTTHUMP00000226552;armadillo repeat-containing protein 1 protein-coding ENSG00000104442 HGNC:17684 16506 VALIDATED 1314376 ARMC12 armadillo repeat containing 12 FOUND IN nucleus; INTERACTS WITH 3-methylcholanthrene; cadmium dichloride (ortholog) 6 6 6 p21.31 37259440 37271267 + 35701567 35716690 + 35733790 35748913 + 6480464 12477932;14574404;14702039;15489334;16344560;17081983 221481 F8WC51;Q5T9G4 AA625684;ABBA01038241;ABBA01038242;AK058119;AL157823;AMYH02013543;BC033033;CH471081;CR735810;DB070109;NM_001286574;NM_001286576;NM_145028;XM_005248919;XM_005248920;XM_006715018 AAH33033;BAB71672;EAX03844;EAX03845;NP_001273503;NP_001273505;NP_659465;Q5T9G4;XP_005248976;XP_005248977;XP_006715081 Hs.533066 1697080 RH102021 C6orf81;FLJ25390 OTTHUMP00000016269;OTTHUMP00000016270;OTTHUMP00000215607;armadillo repeat-containing protein 12;hypothetical protein LOC221481;uncharacterized protein C6orf81 APPROVED protein-coding ENSG00000157343 HGNC:21099 12901 VALIDATED 6480855 ARMC2-AS1 ARMC2 antisense RNA 1 6 6 q21 109228681 109229561 - 108908140 108924103 - 101929716 ABBA01026140;AL445189;AMYH02014277;BG504478;HG499515;NR_104137 RP11-249L21.5 APPROVED ncrna HGNC:41008 VALIDATED 7204788 ARMC4P1 armadillo repeat containing 4 pseudogene 1 10 10 27555336 27580347 + 27266407 27291418 + 101060171 ABBA01034391;ABBA01034392;ABBA01034393;AL160291;AL354859;AL355493;AMYH02022511;XM_006709935;XM_006717544;XM_006726513 XP_006709998;XP_006717607;XP_006726576 protein-coding HGNC:44937 MODEL 1350350 ARMC2 armadillo repeat containing 2 INTERACTS WITH benzo[a]pyrene; dibutyl phthalate (ortholog); valproic acid (ortholog) 6 6 6 q21 109915511 110041258 + 109169617 109295352 + 108848414 108974472 + 1580863;6480464 11076863;11230166;12477932;14702039;15489336;16344560;16381901;18978678;20080650;21946350;23284291;23535732;24250222 84071 H0Y4P5;Q8NEN0 ABBA01026140;ABBA01026141;AK095234;AK292499;AK294574;AK309813;AK311225;AL136754;AL390208;AL445189;AMYH02014276;AMYH02014277;AW195322;BC030603;CH471051;DA196834;NM_001286609;NM_032131;XM_005267154;XM_005267155;XM_005267156;XM_005267157;XM_006715573;XM_006715574 AAH30603;BAF85188;BAG53010;BAG57766;CAB66688;CAL37642;CAL38457;EAW48369;EAW48370;NP_001273538;NP_115507;Q8NEN0;XP_005267211;XP_005267212;XP_005267213;XP_005267214;XP_006715636;XP_006715637 Hs.645481 1667503;1670584;1705232;1768762;1852736;2152562;2180136;5111194 D6S2100;GDB:4584994;RH46688;RH66169;SHGC-31355;SHGC-37334;SHGC-78104;WI-18640 DKFZp434P0714;RP11-787I22.1;bA787I22.1 OTTHUMP00000016947;armadillo repeat-containing protein 2 protein-coding ENSG00000118690 HGNC:23045 09809 VALIDATED 1312695 ARMC3 armadillo repeat containing 3 Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008] 10 10 10 p12.31 22904614 23014160 + 23216954 23327452 + 22928024 23038523 + 6480464;8554872 12477932;14702039;16385451;16397042;16915934;19056867;20379614;23382691;8889548 219681 B4DXS3;C9JC46;Q5W041;Q5W042 AA628128;ABBA01034471;ABBA01034472;AC079269;AK057389;AK090961;AK098711;AK302104;AK302985;AL139815;AMYH02022441;AMYH02022442;AMYH02022443;AY436643;BC039312;BX115364;CB240778;CH471072;DB459427;NM_001282745;NM_001282746;NM_001282747;NM_173081;XM_005252380;XM_005252381 AAH39312;AAR99738;BAB71463;BAC05389;BAG63485;BAG64125;EAW86137;EAW86138;EAW86139;NP_001269674;NP_001269675;NP_001269676;NP_775104;Q5W041;XP_005252437;XP_005252438 Hs.659807;Hs.722481 1700418;1747619;2113930 AB070084;G65505;RH103830 CT81;FLJ25845;FLJ32827;KU-CT-1;RP11-300B11.1 OTTHUMP00000019303;OTTHUMP00000019304;OTTHUMP00000205394;OTTHUMP00000205395;armadillo repeat-containing protein 3;beta-catenin-like protein;cancer/testis antigen 81 APPROVED protein-coding ENSG00000165309 HGNC:30964 12487 611226 VALIDATED 1315828 ARMC4 armadillo repeat containing 4 INVOLVED IN cell projection organization (inferred); cilium movement (inferred); left/right axis specification (inferred); ASSOCIATED WITH Autosomal recessive inheritance (inferred); Bronchiectasis (inferred); Chronic bronchitis (inferred); FOUND IN axoneme; ciliary base; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; kojic acid 10 10 10 p12.1-p11.23 27864582 28051379 - 28101095 28287977 - 27812166 27999048 - 6480464;8699517;7240710;8554872 11230166;12477932;14702039;15164054;16385451;20877624;23251661;23849778;24203976 55130 B7Z7A1;B7Z7Y0;Q5T2S8;Q5T2S9;R4GN11 ABBA01034380;ABBA01034381;ABBA01034382;ABBA01034383;AK001238;AK001679;AK292521;AK301708;AK302048;AK302419;AK302627;AL136859;AL355372;AL390866;AMYH02022519;AMYH02022520;AMYH02022521;AMYH02022522;AMYH02022523;BC085611;BC140846;BG187578;CH471072;DA184551;NM_001290020;NM_001290021;NM_018076;XM_005252485;XM_006717453;XM_006717454;XM_006717455 AAI40847;BAA91574;BAF85210;BAH13537;BAH13617;BAH13703;BAH13766;CAB66793;EAW86049;EAW86050;NP_001276949;NP_001276950;NP_060546;Q5T2S8;XP_005252542;XP_006717516;XP_006717517;XP_006717518 Hs.127530 2182409;2218254 ARMC4_4371;WI-18023 CILD23;DKFZp434P1735;FLJ10376;FLJ10817;FLJ32798;RP11-691I13.1 OTTHUMP00000019375;armadillo repeat-containing protein 4 protein-coding ENSG00000169126 HGNC:25583 10663 615408;615451 VALIDATED 1315235 ARMC5 armadillo repeat containing 5 This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] 16 16 16 p11.2 28829903 28838074 - 31469010 31478488 + 31458273 31467167 + 1580863;6480464;8554872 11214971;12477932;14702039;21145461;21963094;22939624;23443559;24283224;24601692;24708098;24739311;24905064 79798 B4DH27;B4DIU9;F5H156;H3BS74;J3KQ26;Q96C12 ABBA01042096;AC026471;AK023125;AK024430;AK294897;AK295790;AK297115;AMYH02031851;AY217348;BC014945;CH471192;NG_034258;NM_001105247;NM_001288767;NM_001301820;NM_024742;XM_005255581;XM_006721091 AAH14945;AAO45101;BAB14418;BAB15720;BAG57988;BAG58611;BAG59622;EAW52131;EAW52132;EAW52133;NP_001098717;NP_001275696;NP_001288749;NP_079018;Q96C12;XP_005255638;XP_006721154 Hs.732945 AIMAH2;FLJ00019;FLJ13063 armadillo repeat-containing protein 5 protein-coding ENSG00000140691 HGNC:25781 07809 615549;615954 REVIEWED 1347915 ARMC7 armadillo repeat containing 7 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 2-methylcholine; atrazine; calcitriol 17 17 17 q25.1 69698445 69718737 + 73106047 73126360 + 75109987 75130265 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;16189514;17207965;21832049;21988832;24250222 79637 B4DVA4;J3KST7;J3KTE5;Q9H6L4 ABBA01028816;ABBA01028817;AC022211;AC111186;AK025813;AK300997;AMYH02033983;BC011728;CH471099;NM_024585 AAH11728;ADQ33149;BAB15242;BAG62616;EAW89236;EAW89237;EAW89238;EAW89239;NP_078861;Q9H6L4 Hs.413047 2179775 RH15966 FLJ22160 armadillo repeat-containing protein 7 protein-coding ENSG00000125449 HGNC:26168 08649 PROVISIONAL 1601876 ARMC8 armadillo repeat containing 8 INTERACTS WITH (-)-demecolcine; arsenous acid; benzo[a]pyrene 3 3 3 q22.3 136330912 136441107 + 137906115 138017231 + 138187248 138298389 + 6480464 11042152;12477932;14702039;17207965;17467196;18215130;19615732;20224683;21139048;21145461;21900206;23022380;23667531;23956138;24816145 25852 B7Z637;C9J2I1;C9J625;C9J8P8;C9JAA7;C9JBY2;G5E9V6;G5E9V7;H7C4J4;H7C5B7;H7C5H2;Q8IUR7 ABBA01059094;AC022337;AC068777;AF109184;AF161541;AK001721;AK001882;AK098500;AK127341;AK128702;AK289577;AK296757;AK296837;AK299229;AK299769;AK304558;AK315932;AL096748;AMYH02007766;AMYH02007767;AMYH02007768;BC013424;BC032661;BC041699;BF966252;BQ014283;BQ719381;BX538188;CH471052;CX167429;DC304503;DC342329;HY004298;NM_001267041;NM_001267042;NM_001282342;NM_014154;NM_015396;NM_213654;XM_006713564;XM_006713565;XM_006713566;XM_006713567 AAF29028;AAH13424;AAH32661;AAH41699;AAQ13493;ADQ32698;BAA91861;BAA91959;BAF82266;BAH12427;BAH12439;BAH12976;BAH13123;BAH14215;BAH14303;CAB46423;EAW79075;EAW79076;EAW79077;EAW79078;EAW79079;EAW79080;EAW79081;EAW79082;NP_001253970;NP_001253971;NP_001269271;NP_054873;NP_056211;NP_998819;Q8IUR7;XP_006713627;XP_006713628;XP_006713629;XP_006713630 Hs.744868 1650421;1679249;1684840;1687950;1694652;1735324;2114535;2168847;2168849;2178832;5037552;5109689 A005Y32;D3S2952E;D8S2279;D9S1004E;G20601;G31439;G43503;RH11764;RH46236;RH93844;SHGC-53479;STS-H73237 GID5;HSPC056;MGC10058;MGC4880;S863-2;VID28 GID complex subunit 5, VID28 homolog;OTTHUMP00000216633;OTTHUMP00000216634;OTTHUMP00000216635;OTTHUMP00000216636;OTTHUMP00000216637;OTTHUMP00000216638;OTTHUMP00000216639;OTTHUMP00000216640;OTTHUMP00000216641;armadillo repeat-containing protein 8 protein-coding ENSG00000114098 HGNC:24999 09992 VALIDATED 1348624 ARMC6 armadillo repeat containing 6 The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 19 19 19 p13.11 19049287 19073824 + 19144387 19168987 + 19033578 19058178 + 737633;6480464;8554872 12477932 15057824;15489334;17353931;18781797;19471022;20639865;20811636;21139048;21890473;21906983;21963094;21987572;22505724;22797925;23464991;24250222;24654937;24816145;25015289;8895530 93436 B4E1N1;F5GWV0;F5GYY4;F5GZP0;F5H052;F5H2K4;F5H2X2;F5H3X1;F5H3Y9;F5H4H6;F5H4P3;F5H6J3;F5H7V0;H0YGL0;H0YGQ5;H0YH65;Q6NXE6 ABBA01051306;ABBA01051307;ABBA01051308;AC003038;AC004447;AK295488;AK303914;AMYH02035749;AMYH02035750;AW615748;BC003700;BC056161;BC067125;BQ012036;BX648486;CH471106;CR749678;CX869901;NM_001199196;NM_033415;XM_005260157;XM_005260158;Z36779 AAD03162;AAH03700;AAH67125;BAG58410;BAG64843;CAH18469;EAW84775;EAW84776;NP_001186125;NP_219483;Q6NXE6;XP_005260214;XP_005260215 Hs.77876 1337320;1729413;1850732;1850734 D19S1018;D19S48;D19S566;RH77737 MGC19595;R30923_1 OTTHUMP00000240623;OTTHUMP00000240624;OTTHUMP00000240627;OTTHUMP00000240629;OTTHUMP00000240630;armadillo repeat-containing protein 6 APPROVED protein-coding ENSG00000105676 HGNC:25049 12488 REVIEWED 9586121 ARMC8P1 armadillo repeat containing 8 pseudogene 1 9 9 9 p13.1 38385714 38386438 - 38452782 38454367 - 38452785 38454370 - 100130871 ABBA01050379;AL390794;AMYH02019511;NG_028720 pseudo HGNC:49918 INFERRED 1604597 ARMC9 armadillo repeat containing 9 FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 q37.1 225838840 225986283 + 232063294 232238606 + 231198580 231373895 + 6480464 11076863;11230166;11347906;11691810;12477932;14702039;15489334;15489336;15815621;16344560;16381901;19056867;19913121;20379614;20628086;21832049;21890473;22863883;23400010;23955597;24049095;24816145;9847074 80210 C9J535;C9JW07;H7BZA2;H7BZY2;H7C2P6;H7C3U7;Q7Z3E5 AB058771;ABBA01002058;ABBA01002059;ABBA01002060;ABBA01002061;ABBA01002062;ABBA01002063;AC009407;AC018738;AK022646;AK027163;AK309395;AMYH02005964;AMYH02005965;AMYH02005966;AY219922;AY929062;BC004514;BC017229;BC065271;BM563736;BX537956;CA427360;CH471063;DA030137;HY022484;KF510790;KF510793;KF510794;NM_001271466;NM_001291656;NM_025139 AAH04514;AAH65271;AAO63554;AAX22760;BAB14153;BAB15678;BAB47497;CAD97923;CAL38172;EAW70950;EAW70951;EAW70952;EAW70953;EAW70954;EAW70955;EAW70956;NP_001258395;NP_001278585;NP_079415;Q7Z3E5 Hs.471610;Hs.744341 1339325;1340990;1651590;1682670;1693270;1718591;1754357;1779194;1783902;1847893;1852019;2129485;5014051;5015621;5015861;5020946;5022200;7185938 D10S16;D11S3732;D2S1335;D2S1392;D2S2193;D2S427;D8S2278;G27370;G42338;L17971;L18426;RH122981;RH91748;SHGC-106690;SHGC-132378;SHGC-152748;SHGC-24315 ARM;FLJ12584;KU-MEL-1;NS21 OTTHUMP00000164302;armadillo/beta-catenin-like repeats;lisH domain-containing protein ARMC9;melanoma/melanocyte specific protein KU-MEL-1;melanoma/melanocyte-specific tumor antigen KU-MEL-1 protein-coding ENSG00000135931 HGNC:20730 07778 VALIDATED 1602335 ARMCX2 armadillo repeat containing, X-linked 2 This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013] X X X q21.33-q22.2 101430845 101435442 - 100910267 100914894 - 101655281 101659891 - 6480464 11162520;12477932;15146197;15383276;15489334;15772651;16221301;21139048;22249249;22569362;24250222;8889548;9628581 9823 A8K5M7;F6R4S2;Q5H9D7;Q5H9D8;Q5H9E0;Q5H9E1;Q7L311 AB011084;ABBA01045009;AC234775;AK291342;AL709063;AMYH02040068;BC012541;BC015926;BC052628;BG548388;BM676866;BX648494;CH471115;CN391032;NG_013221;NM_001282231;NM_014782;NM_177949;XM_005278109;XM_005278110;XM_005278111;XM_005278113;XM_005278114;XM_005278115;XM_005278116;XM_005278117;Z83131 AAH12541;AAH15926;ABM84493;ABM85249;BAA25438;BAF84031;CAI42019;CAI42020;CAI42021;CAI42022;CAI42023;CAI42024;EAX02885;EAX02886;EAX02887;EAX02888;EAX02889;EAX02890;EAX02891;NP_001269160;NP_055597;NP_808818;Q7L311;XP_005278166;XP_005278167;XP_005278168;XP_005278170;XP_005278171;XP_005278172;XP_005278173;XP_005278174 Hs.48924 1644890;1644892;1702546;1849254;2109061;2159230 A001V26;ARMCX2_8998;DXS7453;G19687;RH46199;SGC30561 ALEX2;GASP9;KIAA0512;MGC13343;MGC8742 ARM protein lost in epithelial cancers on chromosome X 2;OTTHUMP00000023690;OTTHUMP00000023691;OTTHUMP00000023692;OTTHUMP00000023693;OTTHUMP00000023694;OTTHUMP00000023695;OTTHUMP00000023696;OTTHUMP00000023697;arm protein lost in epithelial cancers, X chromosome, 2;armadillo repeat protein ALEX2;armadillo repeat-containing X-linked protein 2 APPROVED protein-coding ENSG00000184867 HGNC:16869 02293 300363 REVIEWED 1345943 ARMCX1 armadillo repeat containing, X-linked 1 This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008] X X X q21.33-q22.2 101325006 101329176 + 100805466 100809683 + 101550531 101554700 + 1580863;6480464;8554872 11162520;12477932;14702039;15489334;15772651;16221301;16303743;20398052;22494058;22569362;23000965;8125298 51309 Q68D26;Q9P291 AB039670;ABBA01044999;AC234775;AF248963;AK074785;AK222578;AMYH02040067;AMYH02040068;BC002691;CH471115;CQ782722;CR749609;NG_015846;NM_016608;Z73913 AAG44561;AAH02691;ABM84422;ABM87397;BAA94603;BAC11208;BAD96298;CAF85956;CAH18404;CAI41999;EAX02874;EAX02875;NP_057692;Q9P291 Hs.9728 1649267;2134116;2180724 A008W48;RH18254;STS-Z40853 ALEX1;DKFZp686P06199;GASP7 ARM protein lost in epithelial cancers on chromosome X 1;OTTHUMP00000023686;arm protein lost in epithelial cancers, X chromosome, 1;armadillo repeat-containing X-linked protein 1 APPROVED protein-coding ENSG00000126947 HGNC:18073 02292 300362 REVIEWED 5144366 ARMCX3-AS1 ARMCX3 antisense RNA 1 (non-protein coding) X X q22.1 101398325 101399726 - 100877747 100879148 - 100128574 AADB02036910;ABBA01045007;AL121883;XM_001714987;XM_001722392;XM_001723116 XP_001715039;XP_001722444;XP_001723168 Hs.711860 protein-coding HGNC:41038 MODEL 5133068 ARMCX5-GPRASP2 ARMCX5-GPRASP2 readthrough This locus represents naturally occurring read-through transcription between the neighboring armadillo repeat containing, X-linked 5 and G protein-coupled receptor associated sorting protein 2 genes on chromosome X. The read-through transcript produces a protein identical to protein encoded by the downstream locus, G protein-coupled receptor associated sorting protein 2. [provided by RefSeq, Dec 2010] X X q22.1 101854276 101972661 + 102599348 102717733 + 8554872 11256614;14702039;15086532;15489334;15772651;20967262 100528062 Q96D09 ABBA01020952;ABBA01020953;ABBA01020954;ABBA01020955;ABBA01020956;ABBA01020957;ABBA01020958;ABBA01020959;ABBA01020960;ABBA01020961;ABBA01020962;ABBA01020963;ABBA01020964;AL035427;AL035551;AMYH02040161;BG392679;NM_001199818 NP_001186747;Q96D09 Hs.522729 1659996 RH78520 FLJ39373;KIAA1701 G-protein coupled receptor-associated sorting protein 2 APPROVED protein-coding HGNC:42000 VALIDATED 1604814 ARMCX3 armadillo repeat containing, X-linked 3 This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] X X X q22.1 101398698 101403409 + 100878117 100882833 + 101623127 101627843 + 6480464 11042152;11162520;12107410;12477932;12975309;15489334;15772651;16169070;16221301;17081983;17643375;18029348;19060904;19304657;21139048;21832049;21890473;22113938;22569362;22797925;22863883;22939629;23000965;23443559;23844091;8125298 51566 H3BM63;H3BV87;Q9UH62 AB039669;ABBA01045007;AC234775;AF211175;AK222655;AK291225;AL121883;AL708980;AMYH02040068;AY359079;BC005194;BG035798;BM905704;BU838618;BX647802;CA397688;CH471115;CR933656;NG_013222;NM_016607;NM_177947;NM_177948;XM_005262141 AAF24487;AAH05194;AAQ89438;ABM83965;ABM87279;BAA94602;BAD96375;BAF83914;CAI42939;CAI45955;EAX02880;EAX02881;EAX02882;EAX02883;EAX02884;NP_057691;NP_808816;NP_808817;Q9UH62;XP_005262198 Hs.592225 1787400;2116734 RH36341;SHGC-64837 ALEX3;DKFZp781N1954;GASP6;KIAA0443;MGC12199;dJ545K15.2 1200004E24Rik;ARM protein lost in epithelial cancers on chromosome X 3;OTTHUMP00000023688;arm protein lost in epithelial cancers, X chromosome, 3;armadillo repeat-containing X-linked protein 3 APPROVED protein-coding ENSG00000102401 HGNC:24065 02294 300364 REVIEWED 1350791 ARMCX5 armadillo repeat containing, X-linked 5 INTERACTS WITH copper atom; copper(0); cyclosporin A X X X q22.1-q22.3 102292727 102297718 + 101854096 101859087 + 102599168 102604159 + 737633;6480464 12477932 14702039;15342556;15489334;15772651;16221301;16344560;18029348;21139048;21906983;22569362;24778252 64860 Q6P1M9;S4R3L0;S4R3L5 ABBA01020952;AK023031;AK023444;AK096692;AL035551;AL537480;AMYH02040161;BC000792;BC022066;BC047679;BC050678;BC058904;BC064983;BE296807;BI765968;BP230064;BX352705;CH471190;CR749476;DA396979;DA558590;DA684921;DN991222;NG_016347;NM_001168478;NM_001168479;NM_001168480;NM_001168482;NM_001168485;NM_022838 AAH00792;AAH58904;AAH64983;ADR82760;BAB14367;BAG53350;CAH18306;EAW54732;EAW54733;EAW54734;NP_001161950;NP_001161951;NP_001161952;NP_001161954;NP_001161957;NP_073749;Q6P1M9 Hs.522729 2164469;2170462;5123807 A002R08;A006P15;DXS9778 DKFZp686A22185;FLJ12969;FLJ13382;GASP5 OTTHUMP00000023718;OTTHUMP00000023719;armadillo repeat-containing X-linked protein 5 protein-coding ENSG00000125962 HGNC:25772 06521 VALIDATED 9586338 ARMCX7P armadillo repeat containing, X-linked 7, pseudogene X X X q22.1 101371841 101372511 + 100852349 100853046 + 101597371 101598068 + 16221301;22569362 653354 ABBA01045003;AC234775;AL121883;AMYH02040068;NG_022684 ARMCX6-ps;GASP10ps pseudo HGNC:49917 INFERRED 1347581 ARMCX4 armadillo repeat containing, X-linked 4 The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] X X X q22.1 101192724 101307940 + 100673064 100790975 + 101418263 101535988 + 737633;6480464 12477932 11181995;14702039;15772651;16221301;16344560;17974005;22569362;7907279;9770300 100131755 D6RBS8;F8W8Y7;Q5H9R4;Q8N0S0 ABBA01044979;ABBA01044980;ABBA01044981;ABBA01044982;ABBA01044983;ABBA01044984;ABBA01044985;ABBA01044986;ABBA01044987;ABBA01044988;ABBA01044989;ABBA01044990;ABBA01044991;ABBA01044992;ABBA01044993;ABBA01044994;ABBA01044995;ABBA01044996;ABBA01044997;AC234775;AK096955;AK125041;AK126987;AK292543;AL035422;AL050285;AL133280;AMYH02040066;AMYH02040067;AY726601;BC032236;BC036206;CH471115;CR933662;DA450941;DA531702;KF459251;KF459252;KF459256;KF459263;KF459265;KF510605;NG_017196;NM_001256155;NM_152583;NR_028407;NR_045861;NR_045862;NR_045863;NR_045864;Z68873;Z69838 BAC04910;BAF85232;BAG54416;CAI45960;EAX02868;EAX02869;EAX02870;EAX02871;EAX02872;EAX02873;NP_001243084;Q5H9R4 Hs.729062 1335103;1664615;1678561;1681064;1685818;1686961;1702914;2116025;7184716 DXS178;DXS8089;DXS9783;RH65164;RH65720;RH91944;RH93397;RH94111 CXorf35;DKFZp586N0819;DKFZp781M0415;FLJ39636;FLJ43051;FLJ45041;GASP4;MGC40053 armadillo repeat containing, X-linked 4 pseudogene;armadillo repeat-containing X-linked protein 4 APPROVED protein-coding ENSG00000196440 HGNC:28615 VALIDATED 1346634 ARMD1 age-related macular degeneration 1 (senile macular degeneration) ASSOCIATED WITH Macular Degeneration, Age-Related, 1 (inferred) 7240710 9715689 404 HGNC:699 603075 1352776 ARMCX6 armadillo repeat containing, X-linked 6 FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; valproic acid; 1,3-dinitrobenzene (ortholog) X X X q21.33-q22.3 101390686 101393569 - 100870108 100872991 - 101615118 101618001 - 737633;1580863;6480464 12477932 14702039;15489334;15772651;16221301;16344560;17081983;17207965;22569362 54470 Q7L4S7 ABBA01045006;ABBA01045007;AC234775;AI076820;AK000818;AK097018;AL121883;AMYH02040068;AW955663;BC007677;BX423052;CH471115;DA933518;L20773;NG_021313;NM_001009584;NM_001184768;NM_019007;NR_033669;NR_033670;XM_006724665 AAH07677;ADQ31855;BAA91387;CAI42938;EAX02877;EAX02878;EAX02879;NP_001009584;NP_001171697;NP_061880;Q7L4S7;XP_006724728 Hs.83530 1655091;1776294;2109063;2157418;7184640 ARMCX6_9788;DXS178;DXS7495;RH1711;RH36040 FLJ20811;GASP10 OTTHUMP00000023687 protein-coding ENSG00000198960 HGNC:26094 06536 VALIDATED 736413 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013] 15 15 15 q24 57634149 57827949 + 80696692 80890278 + 80404350 80597937 + 1580863;631760;6480464;6483352;6907045;8699517;8554872 12859947;22169972 10648817;11076863;11230166;11247670;11782478;12210012;12239177;12477932;14701734;15489334;15489336;16147992;16381901;16713569;17826745;17899366;18711365;19598235;20211142;20634891;20706985;21512513;21832049;21945317;21988832;23275444;23383108;24022475;24465693;24722188;24814368;24816145;8927054;9205841 9915 H0YKW1;Q7Z3A3;Q86TN1;Q9HBZ2;X5DQN9 AB002305;ABBA01060624;ABBA01060625;ABBA01060626;ABBA01060627;ABBA01060628;ABBA01060629;AC016705;AC108451;AF185610;AK295763;AMYH02030883;AMYH02030884;BC029293;BC036099;BC051335;BX538026;BX647212;CH471136;KF511219;KJ534772;KJ534773;KJ534986;KJ534995;KJ534996;KJ535008;KJ535009;KJ535057;NM_014862 AAG15310;AAH36099;AAH51335;ABM85102;ABM92227;AHW56412;AHW56413;AHW56626;AHW56635;AHW56636;AHW56647;AHW56648;AHW56696;BAA20766;BAG58589;CAD97972;CAL37851;EAW99114;NP_055677;Q9HBZ2 Hs.459070 1665323;1681769;1704112;1708994;1722009;1733646;1751903;1762155;1763451;1765583;1778764;1788714;1794654;1797298;2114896;2132393;2145237;2160067;2164288;2175009;5022200;5022820;5095124 1808;ARNT2,_C.1503+27G>C;ARNT2,_C.2028G>A;ARNT2_2060;D15S1510;D15S614E;D15S823;G59891;L18426;PMC343817P2;RH136634;RH44818;RH48627;RH66360;RH92809;SHGC-105794;SHGC-146049;SHGC-147162;SHGC-149043;SHGC-79562;SHGC-83380;STS-W45696;UniSTS:63083 KIAA0307;WEDAS;bHLHe1 ARNT protein 2;OTTHUMP00000229925;aryl hydrocarbon receptor nuclear translocator 2;class E basic helix-loop-helix protein 1 APPROVED protein-coding ENSG00000172379 HGNC:16876 606036;615926 REVIEWED 1606093 ARMS2 age-related maculopathy susceptibility 2 This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. [provided by RefSeq, Oct 2008] 10 10 10 q26.13 117946434 117949123 + 124214179 124216868 + 122454663 122457352 + 7240710 12477932;16080115;16174643;16642439;16954704;17000705;17194541;17285240;17325155;17347568;17352366;17426452;17456821;17485225;17675241;17692272;17846368;17884985;18054635;18061132;18079691;18161619;18162041;18164066;18248681;18292785;18325906;18400199;18423869;18436811;18452766;18461138;18493315;18511946;18515590;18544707;18569809;18682806;18682812;18688167;18762075;18855541;18936151;19001225;19048105;19065273;19117936;19168221;19169232;19197355;19202148;19255159;19259132;19268887;19491722;19568762;19661236;19680273;19796758;19797206;19822855;19823576;19845562;19892838;19898184;19933179;19933195;19948975;20007824;20022638;20042647;20140183;20157352;20157618;20238042;20346514;20378180;20381870;20385819;20385826;20413980;20456446;20574013;20664794;20664795;20671585;20688737;20801516;20861866;20878164;20881291;20888482;21031019;21106043;21122828;21191724;21203342;21236409;21252205;21282580;21397333;21541271;21665990;21784201;21790300;21816153;21825189;21855673;21896867;21959923;22035603;22065928;22133792;22138417;22219653;22232482;22293892;22481475;22487577;22491416;22509112;22552255;22694956;22705344;22809783;22840423;22893087;22977134;23060141;23098369;23111182;23112567;23289807;23289808;23296223;23315805;23326481;23326517;23337555;23362846;23414945;23455636;23494043;23572227;23577725;23582991;23592919;23687431;23697955;23867343;23942973;23959158;23972322;24013816;24217333;24397185;24453474;24557084;24612979;24781946 387715 P0C7Q2 ABBA01062845;AMYH02023950;BC066349;BC090924;BX842242;EU427528;NG_011725;NM_001099667 AAI60152;ACA35288;NP_001093137;P0C7Q2 Hs.120359 ARMD8 OTTHUMP00000235364;age-related maculopathy susceptibility protein 2 APPROVED protein-coding ENSG00000254636 HGNC:32685 611313 REVIEWED 732739 ARNT aryl hydrocarbon receptor nuclear translocator This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013] 1 1 1 q21 123898224 123964878 - 150782181 150849244 - 150809705 150876768 - 734608;1580863;634668;2313995;2313996;6480464;6483352;6484113;6907045;8554872 10829078;12586752;16096055;18366646;22169972 10395741;10471301;10594042;10692439;10777486;10999956;11013261;11129342;11259606;11259609;11393538;11502749;11756572;11768231;11782478;11835227;11879970;12024042;12032587;12065584;12354770;12477932;12754377;12774124;1317062;1448077;14638687;14701734;15190133;15231748;15319539;15347669;15368494;15485806;15492120;15635607;15837795;16007214;16084889;16111650;16129408;16364012;16410262;16520375;16554418;16567799;17207965;17559847;18029348;18174159;18375543;18381358;1852076;18568448;18632753;18676680;18762723;18949049;19018768;19030229;19129502;19131627;19170196;19203995;19251700;19287200;19322201;19390533;19416713;19625176;19692168;19730683;19828131;19850893;19913121;20049704;20453000;20478051;20508969;20562859;20628086;20634891;20699359;20804916;21081473;21199896;21298084;21435239;21462134;21512126;21544813;21742528;21828933;21983785;21988832;22183315;22211302;22235307;22306343;22328528;22387692;22505606;22903824;23116263;23263486;23275444;23448877;23541582;23585552;23907215;24220583;24249660;24371328;24618291;24664708;24816145;24990649;7488247;7539918;7628454;7716743;8065341;8089148;8125298;8244375;8384309;8621524;8663540;8756616;8794892;8889548;8927054;8940186;9020169;9079689;9111057;9113979;9271372;9328285;9704006;9712901;9887096 405 A6NGV6;A8K6P0;B0AZM1;D6RDB3;P27540;Q53F30 A92931;AB209877;ABBA01049354;ABBA01049355;ABBA01049356;ABBA01049357;ABBA01049358;AF001307;AK223459;AK290177;AK291705;AK293027;AK304772;AK313780;AK315812;AL137290;AL355860;AL834279;AMYH02001863;AMYH02001864;AY430083;BC028362;BC041121;BC060838;BU730937;CH471121;M69238;NG_028248;NM_001197325;NM_001286035;NM_001286036;NM_001668;NM_178427;XM_005245151;XM_005245153;XM_005245154;XM_005245157;Y18500;Y18859 AAA51777;AAC03365;AAH60838;AAQ96598;ADQ33017;BAD93114;BAD97179;BAF82866;BAF84394;BAF85716;BAF98703;BAG36518;BAG65527;CAB65056;CAB69528;CAC21446;CAD38953;EAW53510;EAW53511;EAW53512;EAW53513;EAW53514;NP_001184254;NP_001272964;NP_001272965;NP_001659;NP_848514;P27540;XP_005245208;XP_005245210;XP_005245211;XP_005245214 Hs.632446 1660066;1666356;1683010;1723445;1770700;1797300;1852554;2137707;2175898 ARNT_2212;D1S3204;D1S3284;G15891;RH118541;RH11989;RH93022;SGC30626;WI-16757 HIF-1-beta;HIF-1beta;HIF1-beta;HIF1B;HIF1BETA;bHLHe2 OTTHUMP00000032943;OTTHUMP00000218217;OTTHUMP00000218218;OTTHUMP00000218219;OTTHUMP00000218220;TANGO;class E basic helix-loop-helix protein 2;dioxin receptor, nuclear translocator;hypoxia-inducible factor 1, beta subunit;hypoxia-inducible factor 1-beta APPROVED protein-coding ENSG00000143437 HGNC:700 00524 126110 REVIEWED 732520 ARNTL aryl hydrocarbon receptor nuclear translocator-like The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 p15 13425472 13534997 + 13299325 13408813 + 13277734 13387266 + 734609;1580863;6480464;8554872 11163178 10531061;11439184;11441146;11875063;12397359;12477932;12738229;12897057;14645221;14701732;14701734;14702039;14750904;15193144;16474406;16507006;16528748;16628007;17274950;17457720;17728404;17994337;18228528;18411297;18430226;18517031;18587630;18644859;18662547;18663240;19277210;19296127;19328558;19460752;19470168;19693801;19839995;19861541;19861640;19912323;19913121;19922678;19934327;20072116;20174623;20180986;20222832;20368993;20446921;20551151;20554694;20628086;20819778;20861012;21102462;21363938;21380491;21411511;21799909;21966465;21990077;22105622;22217103;22510946;22990020;23003921;23033538;23129285;23206673;23229515;23323702;23337503;23358160;23395176;23449886;23503662;23546644;23563360;23584858;23602568;23606611;24005054;24103761;24418196;24722188;24728990;9079689;9144434;9576906;9616112;9704006;9989497 406 E9PI92;E9PKF0;E9PKG7;E9PKN1;E9PL54;E9PNI4;E9PPV4;E9PRB1;E9PSD2;H0YER9;O00327 AB000812;AB000813;AB000814;AB000815;AB000816;ABBA01061125;AC016884;AC022878;AF044288;AK095749;AK128317;AK291510;AK315174;AMYH02024350;BC016674;BC031214;BC041129;BE391243;CH471064;D89722;EF015894;NM_001030272;NM_001030273;NM_001178;NM_001297719;NM_001297722;NM_001297724;U51627;U60415;XM_005252928;XM_005252929;XM_005252930;XM_006718233;XM_006718234;XM_006718235 AAB37248;AAC24353;AAC51213;AAH16674;AAH31214;AAH41129;ABM64205;ABZ91992;ADZ15602;BAA19935;BAA19936;BAA19937;BAA19938;BAA19939;BAA19968;BAF84199;BAG37615;BAG53120;EAW68503;EAW68504;EAW68505;EAW68506;EAW68507;EAW68508;EAW68509;EAW68510;EAW68511;EAW68512;EAW68513;NP_001025443;NP_001025444;NP_001169;NP_001284648;NP_001284651;NP_001284653;O00327;XP_005252985;XP_005252986;XP_005252987;XP_006718296;XP_006718297;XP_006718298 Hs.65734 1339434;1340742;1724021;1740815;1775893;1795400;1853745;5491449 ARNTL_1824;D11S1794;D11S4441;D6S1560;MARC_12777-12778:999891099:1;RH119816;RH78096;WI-14129 BMAL1;BMAL1c;JAP3;MGC47515;MOP3;PASD3;TIC;bHLHe5 ARNT-like protein 1, brain and muscle;OTTHUMP00000197997;OTTHUMP00000197998;OTTHUMP00000197999;OTTHUMP00000198000;OTTHUMP00000198001;PAS domain-containing protein 3;aryl hydrocarbon receptor nuclear translocator-like protein 1;bHLH-PAS protein JAP3;basic-helix-loop-helix-PAS orphan MOP3;basic-helix-loop-helix-PAS protein MOP3;brain and muscle ARNT-like 1;class E basic helix-loop-helix protein 5;member of PAS protein 3;member of PAS superfamily 3 APPROVED protein-coding ENSG00000133794 HGNC:701 03973 602550 REVIEWED 8548988 ARNTL2-AS1 ARNTL2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 12 12 p11.23 27542722 27599591 - 27389789 27446634 - 8554872 12477932 101928646 ABBA01068048;AC068794;AC092829;AMYH02026244;AMYH02026245;AMYH02026246;BC043511;BU568793;HG504626;NR_109975 Hs.434269 ncrna ENSG00000245311 HGNC:49892 VALIDATED 737603 ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 12 12 12 p12.2-p11.2 32631579 32719063 + 27485787 27578746 + 27332854 27425813 + 1580863;2314371;2314359;6480464;8554872 16893914;17728404 10737800;10864977;10964693;11018023;11554928;12055078;12477932;12738229;14701734;15147242;15489334;18228528;18663240;19470168;19605937;19693801;19839995;19850743;19913121;20072116;20174623;20180986;20368993;20554694;20628086;21658431;22198637;24722188 56938 H0Y5R1;Q8WYA1 AB039921;ABBA01068047;ABBA01068048;AC068794;AC092829;AF231338;AF231339;AF246960;AF246961;AF246962;AF246963;AF256215;AK296706;AMYH02026244;AMYH02026245;BC000172;BC125061;BC125062;BQ774827;CH471094;CV388040;GM828357;KF455621;NG_030359;NM_001248002;NM_001248003;NM_001248004;NM_001248005;NM_020183;XM_006719112;XM_006719113;XM_006719114 AAF71306;AAF71307;AAG34652;AAH00172;AAI25062;AAI25063;AAL50339;AAL50340;AAL50341;AAL50342;BAB01485;BAH12415;CAV28553;EAW96552;EAW96553;EAW96554;NP_001234931;NP_001234932;NP_001234933;NP_001234934;NP_064568;Q8WYA1;XP_006719175;XP_006719176;XP_006719177 Hs.445447 1681963;1726087;1726143;5015619;5021874;5022651;5109281 D11S2921;D11S3114;D1S1425;G62259;G62346;RH99013;ha1237 BMAL2;CLIF;MGC149671;MGC149672;MOP9;PASD9;bHLHe6 CYCLE-like factor;OTTHUMP00000240584;OTTHUMP00000240585;OTTHUMP00000240586;OTTHUMP00000240587;OTTHUMP00000240588;OTTHUMP00000240589;OTTHUMP00000240590;OTTHUMP00000240591;PAS domain-containing protein 9;aryl hydrocarbon receptor nuclear translocator-like protein 2;basic-helix-loop-helix-PAS protein MOP9;brain and muscle ARNT-like 2;class E basic helix-loop-helix protein 6;member of PAS protein 9;transcription factor BMAL2 APPROVED protein-coding ENSG00000029153 HGNC:18984 16507 614517 REVIEWED 1344294 ARPC1A actin related protein 2/3 complex, subunit 1A, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 7 7 7 q22.1 93657670 93698057 + 98923496 98963885 + 99325873 99366262 + 631743;1580863;2317557;6480464;6907045 19145645;9230079 12477932;12690205;12853948;15489334;15635413;16344560;17072959;17086175;17353931;18187620;19056867;19322201;20570966;21139048;21533175;21890473;21906983;22863883;22939629;24250222;8125298;8978670;9359840 10552 E9PF58;F8WFD3;Q92747;V9HVZ6 AB209059;ABBA01013265;ABBA01013266;ABBA01013267;AC004834;AC004922;AK223015;AMYH02016360;BC006445;BC039594;BC047889;BC054027;BM924483;CH236956;CH471091;DA089818;EU668326;NM_001190996;NM_006409;Y08999 AAH39594;AAH47889;AAH54027;AAS00381;ACE86776;ACE87462;ACF94479;ADZ15604;BAD92296;BAD96735;CAA70203;EAL23883;EAW76681;EAW76682;EAW76683;NP_001177925;NP_006400;Q92747 Hs.124126 2168965;5020853;5113457 D7S2721;RH11961;SHGC-5612 Arc40;HEL-68;SOP2Hs;SOP2L OTTHUMP00000206032;OTTHUMP00000206034;SOP2-like protein;actin binding protein (Schizosaccharomyces pombe sop2-like);actin-related protein 2/3 complex subunit 1A;epididymis luminal protein 68 APPROVED protein-coding ENSG00000241685 HGNC:703 07252 604220 REVIEWED 736395 ARPC1B actin related protein 2/3 complex, subunit 1B, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011] 7 7 7 q22.1 93706528 93726623 + 98972298 99004226 + 99374675 99394801 + 631743;1580863;6480464;6484113;6907045 9230079 11162547;11533442;11721045;11741539;11943145;12115587;12477932;12665801;12690205;12853948;14749719;15279900;15489334;15635413;15894313;16344560;16723437;17353931;20603326;20876399;21139048;21628992;21832049;21890473;21906983;22863883;22939629;23000965;23398456;23602568;24654937;24816145;25027693;8619474;9110174;9126924;9359840 10095 A4D275;C9J4Z7;C9J6C8;C9JBJ7;C9JEY1;C9JFG9;C9JM51;C9JQM8;C9JTT6;C9K057;F8VXW2;F8WEB3;O15143 ABBA01013264;ABBA01013265;AC004922;AF006084;AK314818;AMYH02016360;AU143525;AY007111;BC002562;BC002988;BC007555;CH236956;CH471091;NM_005720;XM_006715825;XM_006715826 AAB64189;AAH02562;AAH02988;AAH07555;ABM83095;ABM86289;BAG37341;EAL23882;EAW76677;EAW76678;EAW76679;EAW76680;NP_005711;O15143;XP_006715888;XP_006715889 Hs.489284 1663900;1673482;1683475;2133778;2135340 A008N20;GDB:4585391;RH16605;RH47278;RH75270 ARC41;p40-ARC;p41-ARC ARP2/3 protein complex subunit p41;OTTHUMP00000206018;OTTHUMP00000206020;actin related protein 2/3 complex, subunit 1b;actin-related protein 2/3 complex subunit 1B;arp2/3 complex 41 kDa subunit APPROVED protein-coding ENSG00000130429 HGNC:704 10366 604223 REVIEWED 1314126 ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q36.1 212848449 212885654 + 219081817 219119071 + 218217094 218254348 + 631743;1580863;6480464;6484113;6907045;8554872 9230079 10235267;11018051;11162547;11721045;11741539;11882288;11943145;12477932;12665801;14702039;15146197;15279900;15489334;15635413;15793564;16027158;16300736;17350576;17353931;18029348;18560548;18708039;18836448;19056867;19861958;20308062;20603326;20876399;20974812;21139048;21251247;21319273;21890473;21906983;21963094;21975549;22188208;22261722;22505724;22863883;22939629;23000965;23119100;23128233;23148219;23251661;23383273;23824909;24250222;24816145;25027693;8812419;9359840 10109 C9JTV5;G5E9J0;G5E9S7;H7C3F9;O15144;Q53R19 ABBA01023875;ABBA01023876;AC021016;AC097483;AF006085;AF279893;AK092520;AK093625;AK290268;AMYH02005785;AMYH02005786;BC000590;BG282181;BG765898;BT006898;CH471063;CN291458;NM_005731;NM_152862;U50523;XM_006712173 AAB64190;AAC50874;AAH00590;AAK07550;AAP35544;AAX93213;BAF82957;EAW70591;EAW70592;EAW70593;EAW70594;EAW70595;EAW70596;EAW70597;NP_005722;NP_690601;O15144;XP_006712236 Hs.529303 1767437;1797074;2137663;2184289;5016478;5022322;5024756 ARPC2_(3);D11S2560;D2S2896;G16343;GDB:434012;RH80030;STS-U50523 ARC34;PNAS-139;PRO2446;p34-Arc ARP2/3 protein complex subunit 34;OTTHUMP00000164144;OTTHUMP00000165866;actin-related protein 2/3 complex subunit 2;arp2/3 complex 34 kDa subunit APPROVED protein-coding ENSG00000163466 HGNC:705 10367 604224 REVIEWED 4890650 ARPC3P2 actin related protein 2/3 complex, subunit 3 pseudogene 2 1 1 1 q32.3 184842175 184842704 + 211615616 211616145 + 211442254 211443003 + 391160 ABBA01048191;AL590101;AMYH02002624;NG_022826 pseudo HGNC:39431 INFERRED 1323728 ARPC3 actin related protein 2/3 complex, subunit 3, 21kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] 12 12 12 q24.11 110499460 110514921 - 110872695 110888222 - 110434890 110450411 - 631743;1580863;6480464;6484113;6907045 9230079 11018051;11146629;11162547;11721045;11741539;11790298;12477932;12665801;12769847;15489334;15635413;15793564;16169070;17207965;17353931;18781797;19056867;19738201;19946888;21139048;21251247;21890473;21900206;21906983;21963094;21987572;22053931;22505724;22623428;22863883;22939629;23000965;23148219;24816145;9000076;9359840;9889097 10094 C9JZD1;F8VR50;O15145 ABBA01005107;ABBA01005108;ABBA01005109;AC144548;AF004561;AF006086;AI144468;AK297309;AK311789;AMYH02027185;BC067747;BC078162;BF434378;BG620669;BG723870;BM999380;CH471054;CR407667;DQ328220;NM_001278556;NM_001287222 AAB61466;AAB64191;AAH67747;AAH78162;ABC59627;ADQ32064;BAG34732;BAG59775;CAG28595;EAW97912;EAW97913;NP_001265485;NP_001274151;O15145 Hs.524741 1687291;2168606 RH48745;RH98959 ARC21;p21-Arc ARP2/3 protein complex subunit p21;OTTHUMP00000166104;OTTHUMP00000166106;actin-related protein 2/3 complex subunit 3;arp2/3 complex 21 kDa subunit APPROVED protein-coding ENSG00000111229 HGNC:706 09175 604225 REVIEWED 4890511 ARPC3P3 actin related protein 2/3 complex, subunit 3 pseudogene 3 11 11 11 q21 91209240 91210024 - 93921370 93922202 - 94188204 94189036 - 729494 ABBA01040034;AMYH02025373;AP002784;NG_021798 pseudo HGNC:39432 INFERRED 1353664 ARPC3P1 actin related protein 2/3 complex, subunit 3 pseudogene 1 20 20 20 q13.13 44455619 44456422 + 47750988 47751791 + 49134451 49135273 + 17353931 87171 ABBA01052735;AL133174;AMYH02037204;NG_002363;NG_029453 1687291 RH98959 ARPC3B;dJ470L14.3 APPROVED pseudo HGNC:16092 INFERRED 4890485 ARPC3P4 actin related protein 2/3 complex, subunit 3 pseudogene 4 11 11 11 70939419 70940187 - 73632439 73633272 - 73921404 73922227 - 100421973 ABBA01017500;AMYH02025101;AP002770;NG_024384 pseudo HGNC:39434 INFERRED 4890724 ARPC3P5 actin related protein 2/3 complex, subunit 3 pseudogene 5 6 6 6 p22.3 17172922 17173693 + 15934974 15935745 + 15934743 15935514 + 441131 ABBA01022176;AL365265;AMYH02013175;NG_022345 pseudo HGNC:39435 INFERRED 1320803 ARPC4 actin related protein 2/3 complex, subunit 4, 20kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010] 3 3 3 p25.3 9768927 9783489 + 9834082 9848789 + 9792495 9807105 + 631743;6480464;6484113;6907045 9230079 11018051;11162547;11721045;11741539;12451597;12477932;12665801;12769847;14702039;15489334;15635413;16169070;16300736;16344560;17274980;17353931;18781797;18805923;19056867;19322201;19738201;20404198;20876399;20959098;21139048;21890473;21906983;21963094;21987572;22505724;22623428;22863883;22939629;23000965;23125841;23148219;23267127;23894563;24457600;24816145;9359840 10093 F8WDD7;F8WDW3;P59998;R4GN08 ABBA01020399;ABBA01020400;AC022382;AF006087;AF019888;AI612891;AK074205;AMYH02006236;AW408422;BC012596;BC065423;BG938423;BI768875;BI910730;BM045872;BQ688329;BX419672;CH471055;DA226584;DA909066;DB060690;NM_001024959;NM_001024960;NM_001198780;NM_005718 AAB64192;AAB71548;AAH12596;AAI52791;EAW63998;EAW64001;NP_001020130;NP_001020131;NP_001185709;NP_005709;P59998 Hs.323342 2157666;2161323 RH65849;SHGC-76697 ARC20;MGC13544;p20-Arc Arp2/3 protein complex subunit p20;OTTHUMP00000165252;OTTHUMP00000207518;OTTHUMP00000207520;OTTHUMP00000233907;actin-related protein 2/3 complex subunit 4;arp2/3 complex 20 kDa subunit APPROVED protein-coding HGNC:707 10368 604226 REVIEWED 1323427 ARPC5 actin related protein 2/3 complex, subunit 5, 16kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 1 1 1 q25.3 156706364 156716017 - 183595328 183605076 - 183626193 183635941 - 631743;1580863;6480464;6484113;6907045 9230079 10508170;11162547;11721045;11741539;12451597;12477932;12665801;12829704;14702039;15146197;15489334;16710414;17207965;17353931;17620599;19056867;19322201;19615732;20876399;21139048;21281821;21890473;21906983;21963094;22089643;22378351;22505724;22863883;22939629;23148219;24250222;24816145;9359840 10092 B1ALC0;O15511 ABBA01027747;AF006088;AF017807;AI148784;AK095424;AK129598;AL137800;AMYH02002284;BC057237;BC071857;BI758106;CH471067;CN291383;NM_001270439;NM_005717 AAB64193;AAB70561;AAH57237;AAH71857;AAI52790;ADQ32213;BAG53053;EAW91163;EAW91164;NP_001257368;NP_005708;O15511 Hs.518609 1653221;1667009;1676926;1690320;1849758 RH12696;RH76379;RH78011;SHGC-56746;SHGC-75978 ARC16;MGC88523;dJ127C7.3;p16-Arc Arp2/3 protein complex subunit p16;OTTHUMP00000033266;OTTHUMP00000033267;OTTHUMP00000038626;actin-related protein 2/3 complex subunit 5;arp2/3 complex 16 kDa subunit APPROVED protein-coding HGNC:708 11969 604227 REVIEWED 5013864 ARPC4-TTLL3 ARPC4-TTLL3 readthrough This locus represents naturally occurring read-through transcription between the neighboring ARPC4 (actin related protein 2/3 complex, subunit 4) and TTLL3 (tubulin tyrosine ligase-like family, member 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 3 3 p 9834232 9878040 + 9792548 9836356 + 6480464 12477932;14702039;20967262;21890473;21906983;21963094;23000965 100526693 F8WCF6;F8WE39;H7C0A3;P59998 ABBA01020398;ABBA01020399;ABBA01020400;AC018809;AC022382;AK024110;AMYH02006236;AMYH02006237;BC025289;NM_001198793 BAB14828;NP_001185722 Hs.323342 1778680;1855946;2110003;2180457 RH17932;RH47393;SHGC-33325;TTLL3_9463 FLJ14048 ARPC4-TTLL3 fusion protein;ARPC4-TTLL3 read-through transcript;OTTHUMP00000220174;OTTHUMT00000364820 APPROVED protein-coding ENSG00000250151 HGNC:38830 VALIDATED 1604167 ARPIN actin-related protein 2/3 complex inhibitor INVOLVED IN directional locomotion; negative regulation of actin nucleation; negative regulation of cell migration; FOUND IN lamellipodium (ortholog); INTERACTS WITH (+)-catechin; 17beta-estradiol; copper(2+) sulfate 15 15 15 q26.1 66846848 66859238 - 90443832 90456222 - 89896532 89912990 - 6480464 11181995;12477932;14702039;15489334;16344560;17207965;20585627;21139048;21890473;22412018;23000965;24132237 348110 H0YL03;H0YMP5;Q7Z6K5 ABBA01053029;ABBA01053030;ABBA01053031;AC027176;AK055252;AK093274;AMYH02031029;BC053602;BM023230;CH471101;DB285255;NM_001282380;NM_182616 AAH53602;ADQ32596;EAX02076;EAX02077;EAX02078;NP_001269309;NP_872422;Q7Z6K5 Hs.6734;Hs.744890 2111180 D15S223E C15orf38;MGC61550 OTTHUMP00000205867;UPF0552 protein C15orf38;arp2/3 inhibition protein;hypothetical protein LOC348110 APPROVED protein-coding HGNC:28782 14697 615543 VALIDATED 6481301 ARPP21-AS1 ARPP21 antisense RNA 1 100874098 AC016943 APPROVED ncrna HGNC:40785 1606318 ARPP19 cAMP-regulated phosphoprotein, 19kDa The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[supplied by OMIM, Feb 2011] 15 15 15 q21.2 29734478 29756262 - 52839384 52861436 - 52547225 52569239 - 6480464 10754390;11279279;11771749;12477932;14702039;15489334;17893145;19322201;20098747;20471941;21164014;21509594;2160982;21832049;21890473;23000965;24816145;8120638;8687439;9653196 10776 H3BMD8;H3BQ52;H3BTD3;P56211 ABBA01039060;ABBA01039061;AC025917;AF084555;AJ223091;AK023195;AK123616;AK311751;AL833077;AMYH02030452;AMYH02030453;AW407610;BC003418;BC100015;BQ422616;CH471082;CR457132;NM_006628;XM_005254132;XM_005254133;XM_005254134;XM_005254135 AAD52044;AAH03418;AAI00016;BAG34694;CAA11115;CAD89929;CAG33413;EAW77454;EAW77455;NP_006619;P56211;XP_005254189;XP_005254190;XP_005254191;XP_005254192 Hs.512908 1664249;1682898;1694614;1734836;1774976;1778983;1856137;5020948;5022200;5022450 D10S275;D15S1182;D1S2237;D2S1588E;G35510;G43323;L18426;RH44327;RH46469;STS-AA040764 ARPP-16;ARPP-19;ARPP16;FLJ41622 ENSAL;cAMP-regulated phosphoprotein 19;cyclic AMP phosphoprotein, 19 kD;endosulfine alpha-like APPROVED protein-coding ENSG00000128989 HGNC:16967 09264 605487 VALIDATED 1318888 ARPC5L actin related protein 2/3 complex, subunit 5-like ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN regulation of actin filament polymerization (inferred); PARTICIPATES IN pathogenic Escherichia coli infection pathway; Shigella infection pathway; FOUND IN extracellular vesicular exosome; focal adhesion; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 9 9 9 q33.3 98279433 98287649 + 127626267 127640012 + 124862130 124877733 + 1580863;6480464;6907045 12451597;12477932;14702039;15164053;15489334;16169070;17081983;17207965;17353931;17620599;19056867;21139048;21693764;21906983;21963094;21987572;21988832;22863883;22939629;24816145 81873 Q9BPX5 ABBA01043758;AF087842;AK056174;AK315604;AL354928;AMYH02021636;BC000018;BC000798;BC002418;BC031388;CH471090;NM_030978;XM_005252250 AAH00018;AAH00798;AAH02418;AAP97155;ADQ33175;BAG51639;EAW87603;EAW87604;NP_112240;Q9BPX5;XP_005252307 Hs.132499 1657352;1851588;2148220;2186971;2186973 G19389;RH1557;RH41807;SGC32156;WI-20843 ARC16-2;MGC3038 OTTHUMP00000022110;OTTHUMP00000022111;actin-related protein 2/3 complex subunit 5-like protein;arp2/3 complex 16 kDa subunit 2 protein-coding ENSG00000136950 HGNC:23366 12490 PROVISIONAL 1606317 ARPP21 cAMP-regulated phosphoprotein, 21kDa This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 3 3 3 p22.3 35625833 35777956 + 35680666 35835988 + 35639174 35794496 + 6480464;8554872 10854908;10931946;12477932;14702039;15144186;15489334;15499021;16344560;17207965;19734545;20379614;21044950;21116278;24127197;24816145;8120638;8889548 10777 A8K0T4;A8K1F3;AAB30130;C9J091;C9J2U3;C9J5R1;C9JD93;C9JI74;C9JQQ6;C9JTF2;C9JTX6;F8WDL2;H7C0P9;H7C1B6;H7C2X8;H7C3J7;Q9UBL0 ABBA01024877;AC016943;AC104308;AC133143;AF112220;AK055064;AK091377;AK093648;AK289649;AK289868;AK294484;AL133109;AMYH02006540;AMYH02006541;AV718064;AV718166;BC017805;BC031106;BC036399;BC036548;BC041385;BC051828;BC066651;BG535216;BQ423297;BU741999;BX488342;BX537647;CH471055;DA275579;NM_001025068;NM_001025069;NM_001267616;NM_001267617;NM_001267618;NM_001267619;NM_016300;NM_198399;XM_005264810;XM_005264811;XM_005264812;XM_005264813;XM_005264815;XM_005264816;XM_006712942;XM_006712943;XM_006712944;XM_006712945 AAB30130;AAF17207;AAH17805;AAH31106;AAH36399;AAH41385;AAH51828;AAH66651;ACE86449;ACE87125;ADQ32260;BAF82338;BAF82557;BAG51459;BAG57707;CAB61414;EAW64470;EAW64471;EAW64472;NP_001020239;NP_001020240;NP_001254545;NP_001254546;NP_001254547;NP_001254548;NP_057384;NP_938409;Q9UBL0;XP_005264867;XP_005264868;XP_005264869;XP_005264870;XP_005264872;XP_005264873;XP_006713005;XP_006713006;XP_006713007;XP_006713008 Hs.475902 1651868;1653307;1667713;1680579;1697418;1721613;1735078;1739039;1773530;1787784;1788926;1854115;2156220;5123929 D3S2765E;D3S3241;G59816;RH102209;RH71422;RH79954;SHGC-173166;SHGC-32030;SHGC-76804;SHGC-76823;SHGC-76827;UniSTS:224247;WI-10468;WI-16264 ARPP-21;FLJ32997;R3HDM3;RCS;TARPP OTTHUMP00000161358;OTTHUMP00000208635;OTTHUMP00000208636;OTTHUMP00000208637;OTTHUMP00000208638;OTTHUMP00000208639;OTTHUMP00000208640;OTTHUMP00000208641;OTTHUMP00000208646;OTTHUMP00000208647;OTTHUMP00000208648;OTTHUMP00000208649;OTTHUMP00000208651;OTTHUMP00000208652;OTTHUMP00000208653;OTTHUMP00000208654;OTTHUMP00000208656;OTTHUMP00000208657;OTTHUMP00000208658;R3H domain containing 3;cAMP-regulated phosphoprotein 21;cyclic AMP-regulated phosphoprotein, 21 kD;thymocyte cAMP-regulated phosphoprotein APPROVED protein-coding ENSG00000172995 HGNC:16968 09265 605488 REVIEWED 1350252 ARR3 arrestin 3, retinal (X-arrestin) ENCODES a protein that exhibits opsin binding (inferred); phosphoprotein binding (inferred); INVOLVED IN endocytosis (inferred); regulation of protein phosphorylation (inferred); signal transduction (inferred); PARTICIPATES IN eicosanoid signaling pathway; visual phototransduction pathway; FOUND IN photoreceptor inner segment; INTERACTS WITH paclitaxel; paracetamol; ammonium chloride (ortholog) X X X cen-q21 69841522 69855024 + 69488185 69501691 + 70268335 70281993 + 1580863;724592;6480464;6893539;6893556;6484113 11934883;21824527;22074925 11063754;11729201;11877451;12477932;12486395;12824223;12850288;12853434;12918707;15489334;15772651;16169070;16189514;17353931;17620599;17680991;17846866;17947233;18802075;19001375;20056609;20460384;20505072;21112970;21118812;21203429;21466165;22242112;22378779;22523077;23139825;24292834;24412749;8224247;8308033;8612728;9169477;9827808;9852134;9931451 407 D6RCT3;P36575 ABBA01067552;ABBA01067553;ABBA01067554;AF033105;AF076512;AL357752;AMYH02039655;AMYH02039656;BC012096;BG472156;CH471132;CR456849;EU883571;NM_004312;U03626;XM_006724651 AAB84302;AAC27524;AAC78395;AAH12096;ABM83169;ABM86370;ACG60645;CAG33130;EAX05348;EAX05349;EAX05350;EAX05351;NP_004303;P36575;XP_006724714 Hs.308 1772605;1848407;2147556 DXS7111;L77849;SHGC-30005 ARRX;cArr C-arrestin;OTTHUMP00000023466;OTTHUMP00000023467;X-arrestin;arrestin 4;arrestin-C;cone arrestin;retinal cone arrestin-3 protein-coding ENSG00000120500 HGNC:710 02358 301770 VALIDATED 1343340 ARRDC1-AS1 ARRDC1 antisense RNA 1 This transcribed locus is thought to be non-coding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 9 9 9 q34.3 111033445 111036970 - 140509784 140513308 - 137615332 137618856 - 6480464 10931946;12477932;15164053;24250222 85026 Q9H2J1 ABBA01022779;AF267857;AL365502;AL516492;AMYH02021945;AW015916;BC011781;BC066646;BC117267;CH471090;CX164735;DB727790;LN608321;NG_011776;NM_032937;NR_122035;NR_122036 AAG44726;AAH66646;AAI17268;ADR82841;EAW88407;EAW88408;NP_116326;Q9H2J1 Hs.522520 AD038;C9orf37 OTTHUMP00000022697;uncharacterized protein C9orf37 APPROVED ncrna HGNC:23395 12955 VALIDATED 732370 ARRB1 arrestin, beta 1 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011] 11 11 11 q13 72283036 72369427 - 74971166 75062875 - 75260122 75351831 - 1580863;1578803;4140419;5133417;5147673;5509893;5509888;5509867;5509895;6480464;6907045;7207059;5135529;7207469;7207060;7411621 15514408;15637145;16304060;16918397;18268361;19229505;20703892;20965243;21066892;21145390;21232674;22015551;22192592 10196135;10347142;10347182;10521508;10644702;10753943;10770944;10823817;10862778;10973280;11031247;11170396;11252894;11259507;11278883;11356842;11533043;11579203;11588219;11694590;11726668;11742073;11777907;11867621;12020767;12065593;12105416;12220636;12393857;12399592;12464600;12477932;12538596;12582207;14500724;14709160;14711824;15084596;15125834;15173580;15489220;15489334;15498833;15611106;15699339;15878855;16051150;16181421;16189514;16280323;16319069;16325578;16344560;16378096;16407241;16432186;16492667;16524428;16580177;16611986;16670094;16709866;16778767;17008309;17207965;17272726;17353931;17377064;17436063;17498700;17500066;17579607;17620599;17623778;17855543;17890288;17900862;17947233;18276584;18534983;18544533;18678875;18703513;18729826;18768750;18775329;18787115;18940181;19153083;19202075;19262695;19279230;19306926;19363159;19372219;19404096;19453261;19509284;19609003;19661922;19782076;19879840;20086095;20353754;20353998;20360068;20379614;20448034;20505072;20650893;20717968;20725137;20801186;20855896;20936779;20956518;21044950;21081496;21212384;21233215;21243522;21378163;21466165;21479985;21502318;21589858;2163110;21642958;21685944;21795688;21857681;21988832;22101011;22106258;22267743;22487268;22871966;22961449;23208497;23236378;23302795;23317236;23400010;23418490;23449980;23582260;23589893;23633677;23818521;23886940;24147004;24169548;24265322;24334028;24452472;24692549;24723693;24837709;24898255;24937675;7896272;8486659;8885248;8889548;9169477;9388255;9501202;9668034;9827808;9924018 408 B7Z1Q3;E9PM35;H0YD81;H0YDS1;H0YEQ2;H0YET9;P49407 ABBA01017469;ABBA01017470;ABBA01017471;AF084040;AF084940;AK074660;AK289718;AK293758;AL157484;AMYH02025112;AMYH02025113;AMYH02025114;AP000744;AP001972;BC003636;BM681392;BQ883950;BU594296;BX402200;CB853136;CD365891;CH471076;CR735690;DA358665;DQ314865;FJ348262;L04685;NG_028118;NM_004041;NM_020251;XM_005273997;XM_005273998;XM_006718552;XM_006718553;XM_006718554;XM_006718555 AAA35558;AAA35559;AAC33295;AAC34123;AAH03636;ABC40724;ACI96306;ADQ31775;BAF82407;BAH11589;EAW74960;EAW74961;EAW74962;NP_004032;NP_064647;P49407;XP_005274054;XP_005274055;XP_006718615;XP_006718616;XP_006718617;XP_006718618 Hs.503284;Hs.625320 1339457;1690183;1772014;1775578;1775657;1775808;1853052;2122714;2154160;2182745;5019659;5024413;5037552 A009B14;D11S1007;D11S4555;D17S1790;D8S2279;G31124;G32376;L17877;STS-M78804;WI-15243;WI-16137;WI-20596;WI-21016 ARB1;ARR1 OTTHUMP00000229765;OTTHUMP00000229766;OTTHUMP00000229801;arrestin 2;arrestin beta-1;beta-arrestin;beta-arrestin-1 APPROVED protein-coding ENSG00000137486 HGNC:711 00146 107940 REVIEWED 731570 ARRB2 arrestin, beta 2 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 17 17 17 p13 4629166 4639975 + 4613789 4624795 + 4710494 4721500 + 1580863;734975;4140419;5133417;5147673;5509867;5509890;5509895;6480464;6484113;6907045;5135529;7207059;7207469;7207060;7411621;8554872 12032308;15637145;16304060;16918397;18268361;19229505;20703892;20965243;21145390;21167192;22015551;22192592 10097102;10644702;10858453;11090355;11226259;11259507;11279203;11356842;11533043;11535606;11588219;11729201;11867621;11877451;12070169;12105416;12186555;12370187;12393857;12464600;12473660;12477932;12488444;12538596;12574160;12582207;12654503;12949261;12958364;12958365;14500724;14702039;14711824;14769794;15125834;1517224;15173580;15231748;15355986;15361545;15364949;15489220;15489334;15528268;15611106;15618519;15626751;15634674;15635042;15687500;15699045;15699339;15728711;15782195;15817468;1587386;15878855;15888437;16038799;16051150;16103897;16169070;16181421;16308565;16325578;16378096;16513835;16524428;16580177;16605244;16611986;16689683;16820410;16894395;16956790;16968782;17005854;17038311;17233643;17256744;17272726;17353931;17377064;17500066;17540773;17565992;17579607;17620599;17713785;17761157;17846866;17855543;17947233;17978999;17984062;18006496;18036556;18039931;18191226;18408005;18435604;18445652;18544533;18604210;18621717;18691971;18703513;18768750;18787115;18801735;18802075;18937294;18940181;19008961;19049562;19060904;19071087;19165858;19171933;19188335;19202075;19219857;19239323;19262695;19279230;19306926;19363159;19372219;19416857;19424180;19453261;19458261;19531493;19730683;19782076;19794961;19846537;19874574;20035620;20056609;20100572;20228252;20360068;20457218;20478633;20497256;20505072;20514076;20656684;20734064;20801186;20864483;20936779;21081496;21112970;21152433;21256133;21258807;21296876;21306178;21318602;21321125;21378163;21389118;21466165;21502318;21589858;21642958;21644508;21645452;21708946;21833475;21890473;21906983;21952200;21988832;22006018;22190034;22242112;22333895;22369787;22472784;22523395;22562249;22610101;22735336;22773819;22871966;23011268;23069267;23077507;23139825;23188799;23208550;23236378;23266473;23290307;23297229;23302795;23341447;23382074;23449980;23527545;23541635;23782696;23818521;23820308;23985900;24056371;24069330;24157794;24169548;24250222;24265322;24377933;24561123;24816145;24817116;24898255;7695743;8486659;9037196;9169477;9346876;9668034 409 I3L0V6;I3L1M6;I3L412;K7EL17;K7ENA6;P32121;Q59EM5;Q68DZ5 AB209786;ABBA01054772;AC091153;AF106941;AK097542;AK290951;AK297059;AK297181;AMYH02032832;BC007427;BC039066;BC067368;BC095450;BG723452;CH471108;CR450310;CR749218;DQ314866;DQ664180;EU883572;NM_001257328;NM_001257329;NM_001257330;NM_001257331;NM_004313;NM_199004;NR_047516;XM_006721520;XM_006721521;XR_429814;Z11501 AAC99468;AAH07427;AAH67368;ABC40725;ABG47460;ABM84152;ABM87555;ABW03579;ACG60646;BAC05094;BAD93023;BAF83640;BAG59581;BAG59672;CAA77577;CAG29306;CAH18075;EAW90419;EAW90420;EAW90421;EAW90422;NP_001244257;NP_001244258;NP_001244259;NP_001244260;NP_004304;NP_945355;P32121;XP_006721583;XP_006721584 Hs.435811 1733410;2107857;2175314;2181033 ARRB2_8210;D17S1272;RH18345;WI-11146 ARB2;ARR2;BARR2;DKFZp686L0365 OTTHUMP00000115951;arrestin 3;arrestin beta-2;beta-arrestin-2 APPROVED protein-coding ENSG00000141480 HGNC:712 00147 107941 REVIEWED 1320585 ARRDC1 arrestin domain containing 1 FOUND IN cytoplasmic vesicle; extracellular vesicular exosome; plasma membrane; INTERACTS WITH cobalt dichloride; lead(0); lead(2+) 9 9 9 q34.3 111023757 111033473 + 140500092 140509812 + 137605640 137615360 + 737633;6480464 12477932 14702039;15164053;15489334;19056867;21139048;21191027;21832049;22315426;23236378;23886940;24561123 92714 F2Z3I4;Q5T370;Q5T371;Q8N5I2 AA552336;AB209523;ABBA01022779;AJ420420;AK001822;AK308376;AL365502;AL542109;AMYH02021945;BC032346;CH471090;CR627251;NM_152285;XM_005266119;XM_005266121;XM_006717320;XM_006717321;XM_006717322 AAH32346;ADZ15345;BAD92760;EAW88403;EAW88404;EAW88405;NP_689498;Q8N5I2;XP_005266176;XP_005266178;XP_006717383;XP_006717384;XP_006717385 Hs.12999 1670730;1779167;2128682;5014051;5015619;5016478;5020946;5022200;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;GDB:434012;L17971;L18426;STS-H18962;STS-N91817;STS-R41874 MGC40555;RP11-48C7.5 OTTHUMP00000022707;OTTHUMP00000022709;alpha-arrestin 1;arrestin domain-containing protein 1 protein-coding ENSG00000197070 HGNC:28633 12491 VALIDATED 6768919 ARRDC3-AS1 ARRDC3 antisense RNA 1 5 5 5 q14.3 86578218 86618586 + 90676164 90716532 + 91380347 91420715 + 12477932 100129716 ABBA01062168;ABBA01062169;AC008799;AMYH02011786;BC043415;KF457942;NR_027435 Hs.116364 2122948 D21S1450 APPROVED ncrna HGNC:44145 VALIDATED 1323388 ARRDC4 arrestin domain containing 4 INVOLVED IN positive regulation of ubiquitin-protein transferase activity; FOUND IN endosome; plasma membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 15 15 15 q26.3 74920256 74933391 + 98503933 98517068 + 97960703 97973838 + 737633;6480464 12477932 14702039;15489334;16344560;16368877;18307387;18976975;19605364;20634892;21890473;21897333;23236378 91947 A8K2F6;Q8NCT1 AA872967;ABBA01032403;AC024651;AK026436;AK093364;AK290221;AK296448;AK316280;AMYH02031134;BC028704;BC038453;BC070100;BY797927;CH471101;DB089068;NM_183376 AAH28704;AAH70100;BAF82910;BAG52696;BAG59099;BAH14651;EAX02213;EAX02214;NP_899232;Q8NCT1 Hs.6093 1646033;2139047;2183806;5017491 A002R32;A008T31;ARRDC4;D15S1330 FLJ36045 OTTHUMP00000194782;arrestin domain-containing protein 4 protein-coding ENSG00000140450 HGNC:28087 10664 VALIDATED 1320117 ARRDC2 arrestin domain containing 2 INVOLVED IN signal transduction (inferred); FOUND IN cytoplasmic vesicle; plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 19 19 19 p13.11 18013652 18026620 + 18111944 18124911 + 18001132 18014102 + 6480464 12477932;14702039;15489334;15498874;21191027;8619474;9110174 27106 Q8TBH0;V9GYU7 ABBA01051243;ABBA01051244;AC020904;AF131826;AF193051;AI420040;AK000689;AK127940;AK128588;AK314657;AMYH02035719;BC022516;BG756314;BQ940909;CH471106;NM_001025604;NM_001286826;NM_015683 AAD20053;AAG22479;AAH22516;BAC87200;BAG37216;EAW84648;EAW84649;EAW84650;EAW84651;NP_001020775;NP_001273755;NP_056498;Q8TBH0 Hs.515249 1778714 RH78495 CLONE24945;PP2703 arrestin domain-containing protein 2 protein-coding ENSG00000105643 HGNC:25225 12492 VALIDATED 1348140 ARRDC3 arrestin domain containing 3 ENCODES a protein that exhibits beta-3 adrenergic receptor binding; INVOLVED IN positive regulation of ubiquitin-protein transferase activity; FOUND IN endosome; plasma membrane; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 5 5 5 q14.3 86566595 86581203 - 90664541 90679149 - 91368724 91383332 - 737633;6480464 12477932 10718198;15489334;16269462;16344560;17207965;19605364;20306291;20559325;20603614;21191027;21652578;21982743;22589738;23208550;23236378;23319801;24379409 57561 Q96B67 AB037797;ABBA01062168;ABBA01062169;AC008799;AK025028;AK026917;AK291753;AMYH02011786;BC015928;BC053619;CH471084;CS300561;DA110572;NM_020801 AAH15928;AAH53619;ADQ32737;BAA92614;BAF84442;CAK32225;EAW95997;NP_065852;Q96B67 Hs.24684 1735472;2165120;2170159 Bdy70c06;D5S1593E;STS-R33609 KIAA1376;TLIMP OTTHUMP00000222400;TBP-2-like inducible membrane protein;alpha-arrestin 3;arrestin domain-containing protein 3;thioredoxin-binding protein-2-like inducible membrane protein-coding ENSG00000113369 HGNC:29263 09810 612464 VALIDATED 1353583 ARRDC5 arrestin domain containing 5 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol (ortholog); potassium dichromate (ortholog) 19 19 19 p13.3 4827460 4839887 - 4890449 4902879 - 4890437 4902867 - 6480464;8554872 12886014 645432 A6NEK1 ABBA01056034;ABBA01056035;ABBA01056036;AC027319;AMYH02035307;AMYH02035308;AMYH02035309;NM_001080523;XM_005259616;XM_006722840 A6NEK1;NP_001073992;XP_005259673;XP_006722903 Hs.574574 arrestin domain-containing protein 5 protein-coding ENSG00000205784 HGNC:31407 PROVISIONAL 1350901 ARSC2 arylsulfatase C, isozyme F 1690506;6586638 413 HGNC:716 301780 737370 ARSB arylsulfatase B Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q14.1 73966272 74175272 - 78073032 78282357 - 78777209 78986534 - 1599228;1580863;6480464;7240710;8554872;8699517 1550123 10036316;10738004;11668612;11802522;12477932;1301949;1390929;14974081;16435196;1718978;17324393;17458871;17643332;18285341;18299243;18406185;18486607;19084217;1930244;19306108;19322201;19346317;19668339;1968043;19913121;20379614;20628086;21182205;21378286;21996138;22079206;22428001;22550062;22971959;23023219;2303452;23520469;23728934;23835622;23855929;24250222;24778176;4215420;6767391;7628016;7687847;8116615;8125475;8541342;8651289;8723688;8889548;9032078;9582121 411 A8K4A0;E5RHC4;P15848 ABBA01062000;ABBA01062001;ABBA01062002;AC020937;AC025755;AC099485;AC114963;AI244301;AI457798;AI821478;AK026942;AK290865;AK314903;AL135624;AMYH02011636;AMYH02011637;AMYH02011638;AMYH02011639;AW236748;BC029051;BC036609;BM664932;BQ216635;BQ775217;BX350102;BX364854;BX369127;CH471084;J05225;M32373;NG_007089;NM_000046;NM_198709;S57777;X72735;XM_005248506;XM_006714615 AAA51779;AAA51784;AAB19988;AAH29051;BAF83554;BAG37417;CAA51272;EAW95821;EAW95822;EAW95823;NP_000037;NP_942002;P15848;XP_005248563;XP_006714678 Hs.149103;Hs.604199 1646104;1647740;1659571;1729309;1741283;1749559;1753019;1761579;1777765;1847559;2128471;2219008;5020740;5024413 ARSB_4330;D5S1447;G64197;GDB:180337;L17809;L17877;RH16224;SHGC-111259;SHGC-12391;SHGC-145581;SHGC-34810;SHGC-36383;SHGC-77871;STS-M32373 ASB;G4S;MPS6 N-acetylgalactosamine-4-sulfatase;OTTHUMP00000135268;OTTHUMP00000222674 APPROVED protein-coding ENSG00000113273 HGNC:714 08358 253200;611542 REVIEWED 1321256 ARSA arylsulfatase A The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010] 22 22 22 q13.33 34939475 34942633 - 51061182 51066601 - 50622754 50628173 - 1358434;1599223;1358435;1580863;6480464;6907045;7240710;8554872;8699517 15026521;15375602;7901316 10220151;10359658;10493829;10591208;11061266;11124905;11333871;11456299;11777924;11857580;11941485;12081727;12459318;12473917;12477932;12788103;12888274;1352356;1352993;1353340;1357970;14571263;14702039;15146197;15188402;15342556;15461802;15489334;15710861;15772092;15962010;16110195;16140556;16311251;16341674;16344560;16678723;1670590;1673291;1674719;1676699;16782379;1678251;1684088;17329011;17560502;17660863;17845130;18029348;18248830;18624398;18693274;18768108;19021637;19054018;19224915;19262745;19606494;1975241;20301309;20301334;21167507;21265945;21454621;21648305;21695197;21966540;21988832;23192358;23209833;23247813;23689179;23969696;24001781;24501781;2562955;2574462;36611;7192199;7581401;7628016;7815433;7825603;7833949;7858169;7860068;7866401;7902317;7906588;7909527;7981715;8095918;8101038;8101083;8104633;8723680;8889548;9090526;9490297;9521684;9600244;9668161;9744473;9888390 410 B4DVI5;P15289;V9GYR0 AB448736;ABBA01042619;ABBA01042620;AK092752;AK098659;AK301098;AK315011;AMYH02038620;AY271820;BC014210;BI770997;BM818814;BP306351;BQ184813;BU632196;BX648618;CA423492;CH471138;CN409235;CR456383;DA844740;DB028013;NG_009260;NM_000487;NM_001085425;NM_001085426;NM_001085427;NM_001085428;U62317;X52150;X52151;XM_006724414 AAB03341;AAH14210;AAP03431;ABM83843;ABM87165;ACE87001;ACE87690;BAG37503;BAG62697;BAH11167;CAA36398;CAA36399;CAG30269;CAH56144;CAK54372;CAK54671;EAW73582;EAW73583;NP_000478;NP_001078894;NP_001078895;NP_001078896;NP_001078897;P15289;XP_006724477 Hs.731715;Hs.88251 1679105;1744247;1744541;1792992;5016596;5117899 GDB:438542;GDB:512802;GDB:631802;GDB:631842;PMC18051P1;RH27787 ASA;MLD OTTHUMP00000196544;OTTHUMP00000196545;OTTHUMP00000196546;OTTHUMP00000196547;OTTHUMP00000196548;cerebroside-sulfatase APPROVED protein-coding ENSG00000100299 HGNC:713 09617 250100;607574 REVIEWED 1353523 ARSD arylsulfatase D The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011] X X X p22.3 7102252 7127631 - 2822011 2847416 - 2903970 2929375 - 1580863;6480464;8554872 11027669;11177574;12477932;14699613;14702039;16344560;22820137;7720070;8845834;9192838;9246409 414 H0YMY1;H7C327;P51689 ABBA01012567;ABBA01038623;ABBA01038624;ABBA01038625;ABBA01038626;ABBA01038627;AC005295;AF160499;AI289224;AK021472;AK055239;AK314479;AMYH02038712;AMYH02038713;BC020229;BC080179;CH471074;DA869167;NG_012495;NM_001669;X83572;XM_005274514;XM_005274515;XM_005274516 AAF22253;CAA58555;EAW98713;EAW98714;EAW98715;EAW98716;NP_001660;P51689;XP_005274571;XP_005274572;XP_005274573 Hs.528631 1665570;1678571;1728899;2118395;2159978;5016781;5117672;5117897 G42687;GDB:595531;GDB:631813;RH1702;RH36003;RH38684;RH66803;SHGC-67307 ASD OTTHUMP00000022848;OTTHUMP00000022849 APPROVED protein-coding ENSG00000006756 HGNC:717 02048 300002 REVIEWED 1343522 ARSDP1 arylsulfatase D pseudogene 1 X Y Y q11.21 1451726 1485439 + 14474762 14499204 + 12354031 12387409 + 12815422;18021436;23810651;8845834 10034 ABBA01065658;ABBA01065659;ABBA01065660;ABBA01065661;AC002992;AC245171;AC253973;NG_000881 1678571;2188293;2188301;5017965;5022822;5095126;5095128;5095130;5095132;5095134;5117672 ARSDP-10;ARSDP-2;ARSDP-3;ARSDP-4;ARSDP-7;ARSDP-8;ARSDP-9;G66179;G66183;GDB:595531;RH38684 ARSDP;ARSDY1 APPROVED pseudo HGNC:718 INFERRED 5488918 ARSD-AS1 ARSD antisense RNA 1 X X 7103186 7104363 + 2822945 2824188 + 100506356 XR_110924;XR_113297 1665570;2159978 RH1702;RH36003 APPROVED ncrna HGNC:40085 1344739 ARSF arylsulfatase F This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011] X X X p22.3 7264010 7309722 + 2958275 3030770 + 3040234 3112729 + 1580863;6480464;8554872 12477932;15342556;15489334;16344560;18029348;19056867;21988832;7720070;9192838;9229115;9685421 416 P54793 ABBA01038644;ABBA01038645;ABBA01038646;ABBA01038647;ABBA01038648;ABBA01038649;ABBA01038650;ABBA01038651;ABBA01038652;ABBA01038653;ABBA01038654;ABBA01038655;AC112653;AMYH02038721;AMYH02038722;BC022389;BP274206;BP277542;BQ228278;BX107362;CH471074;DA156994;DA628671;NG_012822;NM_001201538;NM_001201539;NM_004042;X97868 AAH22389;CAA66462;EAW98722;NP_001188467;NP_001188468;NP_004033;P54793 Hs.101674 1743597;1779264;2153461 G30983;GDB:359851;SHGC-153192 ASF OTTHUMP00000022857;OTTHUMP00000022858 APPROVED protein-coding ENSG00000062096 HGNC:721 02049 300003 REVIEWED 1353090 ARSFP1 arylsulfatase F pseudogene 1 X Y Y q11.21 1344930 1350665 - 14373004 14378739 - 12252300 12258035 - 12815422 23757 ABBA01065675;ABBA01065676;ABBA01065677;AC004772;AC245171;NG_002804 1341229;1711432 DXS1233;G42673 ARSFP APPROVED pseudo HGNC:722 INFERRED 1312633 ARSE arylsulfatase E (chondrodysplasia punctata 1) Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013] X X X p22.3 7132912 7162720 - 2852673 2886345 - 2934632 2968310 - 1580863;1599238;6480464;7240710;8554872;8699517 9409863 11177574;11260213;12477932;12567415;15146197;15342556;16169070;16344560;16470742;18348268;19056867;19839041;20301713;21998595;22021425;23462608;23470839;7720070;8125298;8845834;9192838;9497243 415 A1L484;B7Z1M0;B7Z6V4;C9J5G7;F5GYY5;F5H324;P51690 ABBA01038628;ABBA01038629;ABBA01038630;ABBA01038631;AC005295;AK223183;AK223199;AK293648;AK301004;AK313093;AMYH02038713;AMYH02038714;AMYH02038715;AW779826;BC130438;BP272004;BP272164;CH471074;CN270432;DA915010;DB073314;HX786884;NG_007091;NM_000047;NM_001282628;NM_001282631;X83573;XM_005274518;XM_005274519;XM_005274521 AAI30439;ADR83078;BAD96903;BAD96919;BAG35917;BAH11556;BAH13390;CAA58556;EAW98717;EAW98718;EAW98719;EAW98720;NP_000038;NP_001269557;NP_001269560;P51690;XP_005274575;XP_005274576;XP_005274578 Hs.386975 1680248;1682069;1728901;2106953;5016532 ARSE_7749;G42688;GDB:595763;RH66804;RH75499 ASE;CDPX;CDPX1;CDPXR;MGC163310 OTTHUMP00000022851;arylsulfatase E;chondrodysplasia punctata 1 APPROVED protein-coding ENSG00000157399 HGNC:719 02171 300180;302950 REVIEWED 1344063 ARSEP1 arylsulfatase E pseudogene 1 X Y Y q11.21 1429956 1445213 + 14452985 14468246 + 12332258 12347515 + 12815422;8845834 10033 ABBA01065662;ABBA01065663;ABBA01065664;ABBA01065665;AC002992;AC245171;NG_000880 1680248;1682069;2106953 ARSE_7749;RH66804;RH75499 ARSEP APPROVED pseudo HGNC:720 INFERRED 1605805 ARSH arylsulfatase family, member H Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] X X X p22.33 7204898 7231677 + 2924654 2951426 + 3006613 3033385 + 6480464 16174644 347527 Q5FYA8 ABBA01038637;ABBA01038638;ABBA01038639;ABBA01038640;ABBA01038641;ABBA01038642;AC112653;AMYH02038717;AMYH02038718;AMYH02038719;AMYH02038720;AY875940;CH471074;NM_001011719 AAI48493;AAI53086;AAW66668;EAW98721;NP_001011719;Q5FYA8 Hs.351533 1768888 DXS2503 ASH OTTHUMP00000215984;arylsulfatase H;sulfatase APPROVED protein-coding ENSG00000205667 HGNC:32488 16509 300586 VALIDATED 1606235 ARSJ arylsulfatase family, member J Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 4 4 4 q26 112113187 112192557 - 114821432 114901281 - 113900284 113980125 - 6480464;8554872 12477932;12975309;15489334;16174644;16344560;16500042;20332099;24165912 79642 D6RGC1;Q5FYB0 ABBA01063835;AC104779;AI087279;AK027201;AK307532;AM049401;AMYH02009951;AX206967;AY358647;AY875938;BC032010;BC033156;BC089445;BC132879;BC132881;BC142701;BC144265;BC151213;BG661302;CH471057;DA031262;DA884606;NM_024590;XM_005263211;XM_005263212;XM_005263213 AAH32010;AAH89445;AAI32880;AAI32882;AAI44266;AAQ89010;AAW66666;BAB15689;CAC60191;CAJ18095;EAX06303;NP_078866;Q5FYB0;XP_005263268;XP_005263269;XP_005263270 Hs.22895;Hs.700496;Hs.712042 1701622;1771442;1858022;2145762;2146865;2153241 D4S1343;RH104453;SHGC-51089;STS-W81455;WI-11180;WI-21570 ASJ;FLJ23548 OTTHUMP00000219665;arylsulfatase J APPROVED protein-coding ENSG00000180801 HGNC:26286 08034 610010 VALIDATED 1606445 ARSK arylsulfatase family, member K Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 5 5 5 q15 90769262 90819241 + 94890825 94940806 + 95555121 95605102 + 6480464 12477932;12975309;15489334;16174644;16500042;23986440;24250222 153642 D6R9F9;D6RBR4;E9PGI0;H0Y9F6;Q6UWY0 ABBA01069250;ABBA01069251;AC008547;AC090071;AK303855;AK316253;AL832711;AMYH02011822;AY358596;AY875939;BC036047;BC050392;BC130329;BC144160;BC144161;CH471084;CQ866752;NM_198150;XM_005271904 AAH36047;AAH50392;AAI30330;AAQ88959;AAW66667;ADR83046;BAG64796;BAH14624;CAD38634;CAH25966;EAW96039;EAW96040;NP_937793;Q6UWY0;XP_005271961 Hs.585051 5037552 D8S2279 ASK;DKFZp313G1735;TSULF OTTHUMP00000149978;OTTHUMP00000222479;arylsulfatase K;telethon sulfatase APPROVED protein-coding ENSG00000164291 HGNC:25239 13183 610011 VALIDATED 1602225 ARSG arylsulfatase G The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] 17 17 17 q24.2 62826927 62988567 + 66255323 66425516 + 68259182 68440769 + 6480464 10231032;12461688;12477932;12975309;15489334;16174644;18283100;19960030;20379614;24375517 22901 B4DQ74;J3KS49;J9JIG6;Q96EG1 AB023218;ABBA01028960;ABBA01028961;ABBA01028962;ABBA01028963;ABBA01028964;AC005332;AC007780;AK311327;AMYH02033870;AMYH02033871;AX206961;AY358380;BC012375;BG700864;CH471099;NG_032814;NM_001267727;NM_014960;XM_005257170;XM_005257172;XM_006721776;XM_006721777;XM_006721778;XM_006721779;XM_006721780 AAH12375;AAQ88746;BAA76845;CAC60188;EAW89055;EAW89056;NP_001254656;NP_055775;Q96EG1;XP_005257227;XP_005257229;XP_006721839;XP_006721840;XP_006721841;XP_006721842;XP_006721843 Hs.437249 1669646;1675738;1697228;1729853;1796786;1847881;2173350 D17S694;G19285;RH102108;RH80612;SLC16A6_835;STS-N33189;STS-N51941 ASG;KIAA1001 APPROVED protein-coding ENSG00000141337 HGNC:24102 13826 610008 REVIEWED 1604953 ARSI arylsulfatase family, member I Sulfatases (EC 3.1.5.6), such as ARSI, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 5 5 5 q32 145757304 145763920 - 149675909 149682525 - 150296346 150302962 - 6480464 12477932;14702039;15146197;16174644;16344560;16500042;19262745;24482476 340075 D6RDH0;Q5FYB1 AB448735;ABBA01026281;ABBA01026282;AC011372;AK122641;AMYH02012455;AY875937;BC111002;BC129995;BC129996;CH471062;CN369733;CQ866756;DA264664;DA759270;NM_001012301 AAI29996;AAI29997;AAW66665;BAG53634;BAH11166;CAH25968;EAW61740;NP_001012301;Q5FYB1 Hs.591252 1652046 RH45058 ASI;FLJ16069;SPG66 OTTHUMP00000224046;arylsulfatase I APPROVED protein-coding ENSG00000183876 HGNC:32521 16510 610009 VALIDATED 1312119 ART1 ADP-ribosyltransferase 1 ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008] 11 11 11 p15 3670682 3690726 + 3663487 3685844 + 3645131 3684772 + 1580863;6480464;8554872 10092875;11498506;12477932;16627471;17614107;7947688;8812442;9119374 417 P52961 ABBA01032051;ABBA01032052;ABBA01032053;AC060812;AJ291430;AMYH02024226;BC017828;BC069102;BC069828;BC111729;CH471158;KF455314;NM_004314;S74683;XM_005252933;XM_006718236;XM_006718237 AAB32387;AAH69102;AAI11730;CAC69964;EAX02558;EAX02559;NP_004305;P52961;XP_005252990;XP_006718299;XP_006718300 Hs.382188 5021872;5037552 D8S2279;sY3084 ART2;ARTC1;CD296;MGC133217;RT6 ADP-ribosyltransferase 2;ADP-ribosyltransferase C2 and C3 toxin-like 1;GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1;OTTHUMP00000013621;mono(ADP-ribosyl)transferase 1 APPROVED protein-coding ENSG00000129744 HGNC:723 03377 601625 REVIEWED 1320437 ART3 ADP-ribosyltransferase 3 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 4 4 4 q21.1 74232860 74334155 + 76932333 77033955 + 76011180 76112802 + 1580863;6480464;8554872 10460751;11879200;12070318;12477932;15489334;16040347;16625277;16934346;18029348;18266473;19913121;20237496;20379614;20395553;20628086;21988832;8125298;8605984;9119374 419 E7ER42;E7ESB3;E7EX61;E9PGR5;Q13508;Q5J1K9 ABBA01063355;AC112719;AK129914;AK225860;AK295305;AK308810;AMYH02009503;AMYH02009504;AMYH02009505;AMYH02009506;AMYH02009507;AY543655;AY543656;AY543657;AY543658;AY543659;AY543660;AY550336;AY550337;AY550338;AY550339;AY550340;AY550341;AY550342;AY550343;AY550344;AY550345;AY550346;BC008397;BC017913;BT007249;CH471057;CR541664;DB451386;NM_001130016;NM_001130017;NM_001179;U47054;X95827;XM_005262997;XM_005262999;XM_005263002;XM_005263003;XM_005263004;XM_005263005;XM_006714218;XM_006714219;XM_006714220 AAB01894;AAH08397;AAH17913;AAP35913;AAT10277;AAT10278;AAT10279;AAT10280;AAT10281;AAT10282;AAT45030;AAT45031;AAT45032;AAT45033;AAT45034;AAT45035;AAT45036;AAT45037;AAT45038;AAT45039;AAT45040;ABM84209;ABM87613;BAG58285;CAA65096;CAG46465;EAX05765;EAX05766;EAX05768;EAX05769;EAX05770;EAX05771;NP_001123488;NP_001123489;NP_001170;Q13508;XP_005263054;XP_005263056;XP_005263059;XP_005263060;XP_005263061;XP_005263062;XP_006714281;XP_006714282;XP_006714283 Hs.24976;Hs.731997 1645663;1645677;1650993;1656469;1763603;1772226;1797452;2108699;2137415;2155208;2163758;2164120;2166361;2174400;5022578 ART3_8212;CXCL10__1179;D1S1423;D4S2674;D4S3268;D4S478;G33388;G33799;G34355;SHGC-147296;SHGC-50663;SHGC-59623;SHGC4-1008;SHGC4-1683;STS-X02530 ARTC3;FLJ26404 ADP-ribosyltransferase C2 and C3 toxin-like 3;NAD(P)(+)--arginine ADP-ribosyltransferase 3;OTTHUMP00000160603;OTTHUMP00000160604;OTTHUMP00000219067;OTTHUMP00000219069;OTTHUMP00000219070;OTTHUMP00000222097;ecto-ADP-ribosyltransferase 3;mono(ADP-ribosyl)transferase 3;mono-ADP-ribosyltransferase APPROVED protein-coding ENSG00000156219 HGNC:725 04363 603086 VALIDATED 1315084 ART4 ADP-ribosyltransferase 4 (Dombrock blood group) This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008] 12 12 12 p13-p12 20127234 20141401 - 14982245 14996413 - 14829311 14843479 - 1580863;6480464;8554872 10971215;11001920;11520417;11896313;12028057;12070318;12477932;12519438;15231747;15489334;15847654;16040347;16140404;18510579;19413734;20431033;20932078;21832049;23421541;6034522;8882867;9119374 420 H7C2G2;Q3KZ29;Q3KZ30;Q93070 ABBA01067886;AC007655;AF290204;AF340233;AF340234;AF382212;AF382213;AF382215;AF382216;AF382218;AF382219;AF382222;AF382225;AK291662;AMYH02026095;AMYH02026096;AY690666;AY829431;AY829432;AY829433;AY829434;AY829435;AY829436;AY829437;AY899803;BC074727;BX096478;CH471094;CR746266;DQ072851;NG_007477;NM_021071;X95826 AAG17845;AAH74727;AAK11274;AAK11275;AAM21462;AAM21464;AAM21465;AAM21466;AAM21467;AAW02794;AAW65375;AAX39378;AAX39379;AAX39380;AAX39381;AAX39382;AAX39383;AAX39384;BAF84351;CAA65095;EAW96332;NP_066549;Q93070 Hs.591158;Hs.655792;Hs.668803 1853112;1854419;5094026 A010B03;G33063;G41311 ARTC4;CD297;DO;DOK1 ADP-ribosyltransferase 4 (DO blood group);ADP-ribosyltransferase C2 and C3 toxin-like 4;Dombrock blood group carrier molecule;NAD(P)(+)--arginine ADP-ribosyltransferase 4;OTTHUMP00000239331;OTTHUMP00000239332;dombrock blood group;ecto-ADP-ribosyltransferase 4;mono(ADP-ribosyl)transferase 4;mono-ADP-ribosyltransferase 4 APPROVED protein-coding HGNC:726 04364 110600 REVIEWED 1350034 ART2P ADP-ribosyltransferase 2, pseudogene 11 11 11 q13 69533947 69534636 + 72231995 72232684 + 72520951 72521640 + 6480464 20210993;7966280;8005606;8812442 418 ABBA01017537;AMYH02025077;AP003785;AP005019;NG_001076;X65050 ART1P;RT6 APPROVED pseudo HGNC:724 INFERRED 1347628 ART5 ADP-ribosyltransferase 5 The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 p15.4 3664036 3667844 - 3659733 3663546 - 3638503 3642316 - 634606;1580863;6480464 11587854 10448534;12070318;12477932;12975309;15489334;17207965 116969 H7C1W0;H7C3U2;Q96L15 ABBA01032053;AC060812;AK313531;AMYH02024226;AW241897;AY358466;BC014577;BI825352;CD557970;CH471158;HY018364;NM_001079536;NM_001297668;NM_053017;NR_123732;XM_005252779;XM_005252780;XM_005252781;XM_006718136;XM_006718137;Y16835 AAH14577;AAQ88831;ADQ31665;CAC79987;EAX02555;EAX02556;EAX02557;NP_001073004;NP_001284597;NP_443750;Q96L15;XP_005252836;XP_005252837;XP_005252838;XP_006718199;XP_006718200 Hs.125680 ARTC5;MGC22848 ADP-ribosyltransferase C2 and C3 toxin-like 5;NAD(P)(+)--arginine ADP-ribosyltransferase 5;OTTHUMP00000013618;OTTHUMP00000013619;ecto-ADP-ribosyltransferase 5;mono(ADP-ribosyl)transferase 5 APPROVED protein-coding ENSG00000167311 HGNC:24049 12493 610625 REVIEWED 1353866 ARVD1 arrhythmogenic right ventricular dysplasia 1 ASSOCIATED WITH Arrhythmogenic Right Ventricular Dysplasia 1578811;7240710 7951245 422 HGNC:729 107970;615582 1347630 ARTN artemin The protein encoded by this gene is a member of the glial cell line-derived neurotophic factor (GDNF) family of ligands which are a group of ligands within the TGF-beta superfamily of signaling molecules. GDNFs are unique in having neurotrophic properties and have potential use for gene therapy in neurodegenerative disease. Artemin has been shown in culture to support the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. Its role in the PNS and CNS is further substantiated by its expression pattern in the proximity of these neurons. This protein is a ligand for the RET receptor and uses GFR-alpha 3 as a coreceptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 1 1 1 p33-p32 42682525 42686445 + 44398992 44402912 + 43933320 43937241 + 2325817;2325819;2325821;2325815;6480464;8655552 18344995;19304517;19937367;20302919;20395845 10583383;10673327;12477932;15489334;15829225;16710414;16734417;16765900;18313696;18970938;19363524;20118197;20305694;20530713;21453483;21907286;22008109;22060274;22770266;22901124;23095743;23185544;23351331;24737320;9448325;9883723 9048 E9PIK2;E9PLG3;E9PN22;Q5T4W7 ABBA01050938;AF109401;AF115765;AF120274;AJ245628;AL357079;AMYH02000908;BC062375;CH471059;NM_001136215;NM_057090;NM_057091;XM_006711023;XM_006711024 AAC98690;AAD13109;AAD13110;AAD21075;AAH62375;CAB52396;EAX07074;EAX07075;EAX07076;EAX07077;EAX07078;EAX07079;EAX07080;EAX07081;NP_001129687;NP_476431;NP_476432;Q5T4W7;XP_006711086;XP_006711087 Hs.632404 EVN;NBN ENOVIN;OTTHUMP00000009173;OTTHUMP00000231148;OTTHUMP00000231149;OTTHUMP00000231150;OTTHUMP00000231151;OTTHUMP00000231154;neublastin;neurotrophic factor APPROVED protein-coding ENSG00000117407 HGNC:727 04863 603886 REVIEWED 1349140 ARVD3 arrhythmogenic right ventricular dysplasia 3 ASSOCIATED WITH Arrhythmogenic Right Ventricular Dysplasia (inferred); Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 (inferred); Death, Sudden (inferred) 1578812;7240710 9344647 8824801 424 1337405 D14S252 HGNC:731 602086 1349198 ARV1 ARV1 homolog (S. cerevisiae) INVOLVED IN bile acid metabolic process (inferred); cholesterol transport (inferred); regulation of cholesterol metabolic process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; formaldehyde 1 1 1 q42.2 204380771 204402432 + 231114823 231136479 + 230979077 231000733 + 1580863;6480464 11063737;12145310;12477932;14702039;15489334;16196087;16710414;17207965;20663892;21890473;21963094;24250222;24273168 64801 F6QB42;H0YEB4;H7C0E7;H7C484;Q9H2C2 ABBA01033032;AF271780;AF290878;AF321442;AK026629;AK293049;AL122047;AL732414;AL844165;AMYH02002885;BC016309;CH471098;NM_022786 AAG44791;AAG47671;AAH16309;AAK11180;ADQ31700;BAB15513;BAF85738;CAB59183;EAW69934;EAW69935;EAW69936;EAW69937;EAW69938;EAW69939;EAW69940;EAW69941;NP_073623;Q9H2C2 Hs.275736 1670917 A007E06 hARV1 OTTHUMP00000035970;OTTHUMP00000036063;OTTHUMP00000036064;OTTHUMP00000036065;OTTHUMP00000036067 protein-coding ENSG00000173409 HGNC:29561 12494 611647 VALIDATED 1353946 ARVD2 arrhythmogenic right ventricular dysplasia 2 ASSOCIATED WITH Arrhythmogenic Right Ventricular Dysplasia; Tachycardia 1578810;7240710 8589694 423 HGNC:730 600996;604772 1345748 ARVD4 arrhythmogenic right ventricular dysplasia 4 ASSOCIATED WITH Arrhythmogenic Right Ventricular Dysplasia 1578812;7240710 9344647 425 1298284;1338915;1341679;7187779 D2S103;D2S151;D2S389 HGNC:732 602087 1342748 AS ankylosing spondylitis 426 HGNC:734 1344380 ARX aristaless related homeobox This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008] X X X p21.3 29145744 29157998 - 25021811 25034065 - 25003694 25015948 - 1599257;1599258;1598407;1580863;6480464;7240710;8554872;8699517 11971879;16772326 10398243;10398246;10920247;11889467;12142061;12177367;12359145;12376946;12376949;12379852;12736870;12874405;12874418;14722918;15199382;15533998;15707237;15726411;15850492;1605216;16523516;16845484;16988001;17044103;17082467;17480217;17490853;17613295;17641262;17664401;17668384;18468866;18923043;18975239;19085879;19587282;19605412;19734009;19738637;20384723;20506206;20538404;21108397;21204215;21204226;21426321;21482751;21496008;22194193;22252899;22387004;22490986;22565167;22628459;22642246;22922607;23072184;23583054;23657928;24727054;3177452;8826457;8826462;8826464;9001795 170302 Q96QS3 AA484051;ABBA01016868;ABBA01072376;ABBA01072377;ABBA01072378;ABBA01072379;AC002504;AMYH02039055;AY038071;BF196892;BQ100952;BQ269551;CA775911;CH471074;NG_008281;NM_139058 AAK93901;EAW99031;EAW99032;NP_620689;Q96QS3 Hs.300304 1338887;1339686;1701896;1788750;1850033;5491890;7185693 Arx;DXS1202;DXS1218;DXS1432;DXS989;RH128932;RH18271 CT121;EIEE1;ISSX;MRX29;MRX32;MRX33;MRX36;MRX38;MRX43;MRX54;MRX76;MRX87;MRXS1;PRTS OTTHUMP00000023088;aristaless-related homeobox, X-linked;cancer/testis antigen 121;homeobox protein ARX APPROVED protein-coding ENSG00000004848 HGNC:18060 02307 300004;300215;300382;300419;308350;309510 REVIEWED 1315392 ARVCF armadillo repeat gene deleted in velocardiofacial syndrome Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010] 22 22 22 q11.21 3808603 3855512 - 19954126 20004325 - 19966603 20016802 - 1578806;1580863;6480464 9126485 10725230;11058098;11821434;12477932;14702039;15123239;15340358;15345747;15456900;15509897;16118784;18198266;18600340;19508883;19617637;19692168;19706687;19724895;19851296;20198315;20333729;20379614;20634891;21139048;21846818;21906983;22053977;22087225;22139419;22889411;23000965;24644279;24819575;7677167;8889548;9192844;9721216 421 C9JJX6;E9PDC3;O00192 ABBA01005398;ABBA01005399;ABBA01005400;AC005663;AK092664;AMYH02038055;BC036893;BC137436;BM716184;CH471176;NG_023326;NM_001670;U51269;XM_005261242;XM_005261243;XM_005261244;XM_006724243;XM_006724244;XM_006724245;XM_006724246;XM_006724247;XM_006724248;XM_006724249;XM_006724250;XM_006724251 AAC51202;AAH36893;AAI37437;BAC03941;EAX03007;EAX03008;EAX03009;NP_001661;O00192;XP_005261299;XP_005261300;XP_005261301;XP_006724306;XP_006724307;XP_006724308;XP_006724309;XP_006724310;XP_006724311;XP_006724312;XP_006724313;XP_006724314 Hs.713616 1645894;1734280;1857183;2112420;2112426;2112432 D22S1603;D22S1605;D22S1607;D22S931;G18186;WI-22519 FLJ35345 OTTHUMP00000028704;OTTHUMP00000198346;OTTHUMP00000198347;OTTHUMP00000198348;armadillo repeat protein deleted in velo-cardio-facial syndrome APPROVED protein-coding ENSG00000099889 HGNC:728 03778 602269 REVIEWED 734135 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p22 16879836 16908397 - 17913925 17942507 - 18056416 18084998 - 734977;1580863;6480464;6484113;6907045;7240710;8554872;8699517 11241842 10610716;10959093;10974027;11451951;12477932;12638942;12754519;12764132;12815059;14702039;15088070;15210766;15489334;16169070;16263699;16335952;16344560;16500425;16806233;17713573;17881906;18245333;18477771;19056867;19298866;19905902;19913121;20360068;20379614;20520628;20628086;20871013;21139048;21335555;21375364;21493710;21504271;21552555;21700700;21846728;21890473;21893389;21988832;22079093;22261821;22268729;22322590;22515519;22703880;22927646;23423838;23518908;23602568;23707712;23777806;23874603;24091326;24098536;7744740;8125298;8889549;8955159;9838138 427 A8K0B6;E7EMM4;Q13510;Q53H01 ABBA01021575;AC124242;AF220175;AK025211;AK025732;AK098299;AK222780;AK289481;AMYH02017544;AMYH02017545;AY305384;BC016481;BC016828;BC035453;BG714023;BU633536;CB216602;CH471080;DA260852;DA306573;DB561177;H78830;KC877215;NG_008985;NM_001127505;NM_004315;NM_177924;U47674;U70063;XM_005273504 AAC50907;AAC73009;AAF91230;AAH16481;AAH16828;AAQ75550;ABM81997;ABM85180;BAB15085;BAD96500;BAF82170;BAG53608;EAW63791;EAW63792;EAW63793;EAW63794;EAW63795;NP_001120977;NP_004306;NP_808592;Q13510;XP_005273561 Hs.527412;Hs.633993 1682043;1735724;1786810;1850492;2120177;2136031;2145172 D8S1341E;D8S1586;D8S2080;D8S2114;RH11700;RH94375;SHGC-170029 AC;ASAH;FLJ21558;FLJ22079;PHP;PHP32 ACDase;OTTHUMP00000122481;OTTHUMP00000122482;OTTHUMP00000224670;OTTHUMP00000224838;SMAPME;acid CDase;acid ceramidase;acylsphingosine deacylase;n-acylsphingosine amidohydrolase (acid ceramidase);putative 32 kDa heart protein APPROVED protein-coding ENSG00000104763 HGNC:735 01969 159950;228000;613468 REVIEWED 1350697 AS3MT arsenite methyltransferase AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008] 10 10 10 q24.32 98369790 98401891 + 104629183 104661656 + 102869453 102901899 + 625365;1580863;6480464 11790780 12477932;15808521;15929903;16344560;16385451;16407288;17306849;17450230;17637926;17850829;17889916;18334919;18414634;18588996;18682255;18976679;19152805;19159958;19167370;19371612;19411561;19430483;19538983;19896490;19932709;20014157;20129672;20532380;20547570;20571777;20621156;20877624;20971157;21139048;21247820;21537954;21963094;22005461;22339537;22341486;22547080;22712827;22747749;22955273;23070617;23093101;23341986;23453885;23535732;23665909;23742935;23894747;23974872;24154821;24239724;24361376;24621105;24792412;8125298 57412 Q9HBK9 ABBA01063131;ABBA01063132;AF226730;AK057833;AK225972;AK309737;AL358790;AMYH02023712;AMYH02023713;AW139845;AY817668;BC119637;BC119638;CH471066;DA368970;NM_020682 AAG09731;AAI19638;AAI19639;AAI60057;AAV68045;EAW49668;EAW49669;NP_065733;Q9HBK9 Hs.720370 1670076;1774675;2179270;2191087;5014051;5015619;5016596;5024761;5037552;5491553 D11S3114;D16S779;D8S2278;D8S2279;GDB:631802;MARC_14453-14454:1010434240:1;MARC_17614-17615:1019141787:1;RH36905;RH44877;STS-N70305 2310045H08Rik;CYT19;RP11-753C18.6 OTTHUMP00000020384;S-adenosyl-L-methionine:arsenic(III) methyltransferase;S-adenosylmethionine:arsenic (III) methyltransferase;arsenic (+3 oxidation state) methyltransferase;methylarsonite methyltransferase;methyltransferase cyt19 APPROVED protein-coding ENSG00000214435 HGNC:17452 16511 611806 VALIDATED 1344716 ASAH2C N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C ENCODES a protein that exhibits ceramidase activity (inferred); INVOLVED IN sphingolipid metabolic process (inferred) 10 10 10 q11.22 75110241 75151685 - 48001709 48050538 - 50187240 50236069 - 6480464 10781606;14557071;15164054;15489334;15845354;15946935;16061940;16229686;21906983 653365 P0C7U2 ABBA01052476;ABBA01052477;AC254108;AL450382;AL954360;NG_012763 CAI17190;P0C7U2 1335475;1721105;2161972;7185095 D10S1447;D10S225;G59537 bA98I6.3 pseudo HGNC:23457 INFERRED 1605058 ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008] 10 10 10 q11.21 75112386 75164225 - 51947000 52008370 - 50187240 50248610 - 6480464;6907045 10753931;10781606;11328816;12477932;14557071;15164054;15210766;15489334;15845354;15946935;16061940;16229686;16385451;16940153;17334805;17475390;17982236;20520628;20877624;21530485;21531200;21906983;23263486;23400010;24397980;8076819 56624 E9PBM9;Q9NR71;V9GY52;V9GYJ5 ABBA01052476;ABBA01052477;AC254108;AF250847;AF449759;AL450382;AY049008;BC107105;BG289059;CH471142;NM_001143974;NM_019893 AAF86240;AAI07106;AAL06061;AAQ04667;EAW80435;EAW80436;NP_001137446;NP_063946;Q9NR71 Hs.512645 1335475;1721105;2161972;7185095 D10S1447;D10S225;G59537 HNAC1;MGC129777;hCD BCDase;LCDase;N-CDase;N-acylsphingosine amidohydrolase 2;NCDase;OTTHUMP00000019606;OTTHUMP00000211204;acylsphingosine deacylase 2;mitochondrial ceramidase;neutral ceramidase;neutral/alkaline ceramidase;non-lysosomal ceramidase APPROVED protein-coding ENSG00000188611 HGNC:18860 611202 VALIDATED 1347222 ASAH2B N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B INTERACTS WITH dimethyl sulfoxide; torcetrapib; valproic acid 10 10 10 q11.23 75112386 75114759 - 52499688 52516948 + 50739885 50757188 + 6480464 15146197;17334805;21906983 653308 B7Z261;P0C7U1 ABBA01052484;ABBA01052485;ABBA01052486;ABBA01052487;ABBA01052488;ABBA01052489;AK294369;AL589794;AMYH02023055;AMYH02023056;BG773189;DC329838;NM_001079516;XM_005270059;XM_005270060;XM_006717952 BAH11747;NP_001072984;P0C7U1;XP_005270116;XP_005270117;XP_006718015 Hs.710005 1340515;1689376 D5S2115;RH80093 ASAH2C;ASAH2L;bA449O16.3 ASAH2-like protein;OTTHUMP00000019609;OTTHUMP00000019610;putative inactive N-acylsphingosine amidohydrolase 2B;putative inactive neutral ceramidase B;putative inactive non-lysosomal ceramidase B protein-coding ENSG00000204147 HGNC:23456 610987 PROVISIONAL 1354069 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 8 8 8 q24.1-q24.2 127244326 127594327 - 131064350 131455906 - 130052104 130443660 - 1580863;6480464;6484113;6907045 10574462;11773070;12029088;12058076;12149250;12477932;12522101;12672817;12771146;14702039;15090612;15719014;15897555;16038802;16223492;16344560;16421571;16636290;17255943;17474147;17893324;18094045;18400762;18519696;18685082;19017632;19041431;19322201;19380743;19525955;19531213;20154719;20467438;20697350;20936779;21139048;21352810;21706016;21858086;21988832;22734003;24116160;24167568;24427349;9819391 50807 E5RFD9;E5RHA9;E5RHD7;H0YBF7;H0YBM4;H0YBY9;Q9ULH1 AB033075;ABBA01037977;ABBA01037978;ABBA01037979;ABBA01037980;ABBA01037981;ABBA01037982;AC009682;AC103725;AC131568;AC139019;AF222859;AI494058;AI656533;AK056811;AK314695;AMYH02018783;AMYH02018784;AMYH02018785;AMYH02018786;AMYH02018787;AMYH02018788;AP005856;AP006178;AP006181;AW236866;AW236958;BC020631;BC070268;BC105978;BC137135;BC144493;BX537768;CH471060;DA319233;HI574070;NG_030354;NM_001247996;NM_018482;XM_005250925;XM_006716563;XM_006716564;XM_006716565;XM_006716566;XM_006716567 AAF67666;AAH20631;AAI37136;BAA86563;CAD97831;CBX47524;EAW92130;EAW92131;NP_001234925;NP_060952;Q9ULH1;XP_005250982;XP_006716626;XP_006716627;XP_006716628;XP_006716629;XP_006716630 Hs.655552 1662904;1698994;1713855;1735838;1749823;1757151;1757563;1856191;2117668;2124278;2131167;2136015;2137065;2144413;2150744;2163256;2186333;2218464 D8S1435E;D8S1921;D8S1945;D8S344;DDEF1_4682;G17258;RH103067;RH119359;RH16451;RH69822;SGC38391;SHGC-111562;SHGC-144582;SHGC-145025;SHGC-34037;SHGC-58182;STS-N34678;WI-3886 AMAP1;CENTB4;DDEF1;DEF-1;KIAA1249;PAG2;PAP;ZG14P 130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein;130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein;ADP-ribosylation factor-directed GTPase-activating protein 1;ARF GTPase-activating protein 1;OTTHUMP00000227438;OTTHUMP00000227440;PIP2-dependent ARF1 GAP;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1;centaurin, beta 4;development and differentiation enhancing factor 1;development and differentiation-enhancing factor 1;differentiation-enhancing factor 1 APPROVED protein-coding ENSG00000153317 HGNC:2720 05809 605953 REVIEWED 7252018 ASAP1-IT2 ASAP1 intronic transcript 2 (non-protein coding) 8 8 8 127276158 127277157 - 131094984 131097014 - 130082738 130084768 - 14702039 100507117 ABBA01037978;AC131568;AK054840;AMYH02018783;NG_030354;NR_045385 BAB70813 Hs.106015;Hs.741322 ncrna HGNC:48917 VALIDATED 1346642 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 1 1 1 p36.12 22084761 22140449 - 23755056 23810750 - 23428563 23484257 - 1580863;6480464;6907045;8554872 12477932;14654939;14702039;15489334;16710414;16737952;18400762;18685082;19380743;20510928;22027826;23776207;24078447;24097068;24284654 55616 B4DRP2;E9PS98;H0YE36;H0YEB0;H0YER8;Q8TDY4;V9GY49 AB056749;ABBA01059872;ABBA01059873;ABBA01059874;AK000206;AK000253;AK074319;AK092291;AK295100;AK299359;AL021154;AL357134;AMYH02000491;AMYH02000492;AMYH02000493;AMYH02000494;BC023519;BC052305;BC060786;CH471134;NM_001143778;NM_017707;XM_005245934 AAH23519;AAH52305;AAH60786;BAA91008;BAA91033;BAB85677;BAG52522;BAG58136;BAG61354;EAW95050;EAW95051;EAW95052;EAW95053;NP_001137250;NP_060177;Q8TDY4;XP_005245991 Hs.437379 1644317;1697132;1732998;1777876;1850009;2139641 Cda0dc08;D1S1370;D1S3162;RH102051;RH18164;SHGC-74378 ACAP4;CENTB6;DDEFL1;FLJ20199;UPLC1 ARF6 GTPase-activating protein;ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 1;OTTHUMP00000003268;OTTHUMP00000003269;OTTHUMP00000235356;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3;centaurin, beta 6;development and differentiation enhancing factor-like 1;development and differentiation-enhancing factor-like 1;protein up-regulated in liver cancer 1;up-regulated in liver cancer 1 (UPLC1) APPROVED protein-coding ENSG00000088280 HGNC:14987 11662 REVIEWED 1313189 ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 2 2 2 p25 9258815 9457991 + 9346894 9545812 + 9206765 9405683 + 1580863;6480464;6907045;8554872 10022920;10749932;11304556;11716503;12149250;12421765;12477932;14702039;15231847;15483625;15489334;15719014;17081983;17255943;17353931;17474147;18654987;18685082;19010793;19322201;20936779;20944657;21110914;22178446;22963397;23999061;9455477;9819391 8853 O43150;Q8N282 AA918883;AB007860;ABBA01015577;ABBA01015578;ABBA01015579;ABBA01015580;ABBA01015581;ABBA01015582;ABBA01015583;ABBA01015584;AC079782;AC080162;AC093904;AK091121;AK124900;AMYH02003246;AMYH02003247;AMYH02003248;BC063308;CH471053;NM_001135191;NM_003887;XM_006711898;XM_006711899;XM_006711900;XM_006711901;XM_006711902 AAH63308;AAY14856;AAY14904;AAY24112;BAA23696;BAC03588;EAX01002;EAX01003;EAX01004;EAX01005;EAX01006;NP_001128663;NP_003878;O43150;XP_006711961;XP_006711962;XP_006711963;XP_006711964;XP_006711965 Hs.555902 1694580;1706884;1764841;2109219;2136828;2165085;2172111 D2S1665E;DDEF2_4683;G43274;RH12299;RH16639;SHGC-148404;SHGC-80929 AMAP2;CENTB3;DDEF2;FLJ42910;KIAA0400;PAG3;PAP;Pap-alpha;SHAG1 OTTHUMP00000145855;PYK2 C terminus-associated protein;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2;centaurin, beta 3;development and differentiation enhancing factor 2;development and differentiation-enhancing factor 2;paxillin-associated protein with ARF GAP activity 3;pyk2 C-terminus-associated protein APPROVED protein-coding ENSG00000151693 HGNC:2721 04820 603817 REVIEWED 1602895 ASAP1-IT1 ASAP1 intronic transcript 1 (non-protein coding) INTERACTS WITH copper(2+) sulfate; cyclosporin A; zinc atom 8 8 8 q24.21 127487751 127488929 - 131307601 131308779 - 130295355 130296533 - 6480464 11042152 29065 ABBA01037979;AC009682;AF161539;AMYH02018785;NG_030354;NR_002765 Hs.639318 ASAP1-IT;ASAP1IT;ASAP1IT1;DDEF1IT1;HSPC054;NCRNA00050 APPROVED ncrna HGNC:24998 VALIDATED 1321850 ASB1 ankyrin repeat and SOCS box containing 1 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008] 2 2 2 q37 233048109 233073377 + 239335382 239360891 + 238426741 238452250 + 1580863;6480464 10574461;11111040;11509662;12076535;12477932;15489334;16325183;16751776;18029348;18187417;19159283;20237496;21145461;21946350;24337577;8619474;9110174 51665 B9A047;F8WBM8;Q9Y576 AB032972;ABBA01042606;AC016999;AF055024;AF156777;AMYH02006073;BC014528;CH471063;NM_001040445;XM_005246080;XR_241235;XR_241236;XR_241237 AAD41894;AAH14528;AAX88934;ADZ15870;BAA86460;EAW71158;EAW71159;NP_001035535;Q9Y576;XP_005246137 Hs.516788 2106441;2126215;2162569;2183832 ASB1_3826;RH35763;SGC30171;WI-20724 ASB-1;KIAA1146;MGC11165 OTTHUMP00000202577;OTTHUMP00000202578;ankyrin repeat and SOCS box protein 1;ankyrin repeat and SOCS box-containing 1 APPROVED protein-coding ENSG00000065802 HGNC:16011 05767 605758 REVIEWED 1344351 ASB11 ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] X X X p22.31 19417215 19449322 - 15293800 15333788 - 15275681 15315664 - 1580863;6480464 12076535;12477932;15489334;16893969;18029348;24337577 140456 F8WF31;Q7Z670;Q8WXH4 ABBA01071284;ABBA01071285;ABBA01071286;ABBA01071287;ABBA01071288;ABBA01071289;AC095351;AF425642;AMYH02038912;AX356190;AX356192;BC069340;BC103873;BC103874;BC103875;BX537853;BX537857;CH471074;NG_012627;NM_001012428;NM_001201583;NM_080873;XM_005274444;XM_006724463;XM_006724464 AAH69340;AAI03875;AAI03876;AAL60519;CAD23023;CAD23024;CAD97861;CAD97864;EAW98877;EAW98878;NP_001012428;NP_001188512;NP_543149;Q8WXH4;XP_005274501;XP_006724526;XP_006724527 Hs.352183 1340271;5037552 D8S2279;DXS9902 ASB-11;DKFZp779E2460;MGC119168;MGC119169 OTTHUMP00000022958;OTTHUMP00000215046;OTTHUMP00000215047;ankyrin repeat and SOCS box protein 11;ankyrin repeat and SOCS box-containing 11;ankyrin repeat and SOCS box-containing protein 11, isoform a;ankyrin repeat domain-containing SOCS box protein ASB11 APPROVED protein-coding ENSG00000165192 HGNC:17186 06450 300626 REVIEWED 1353086 ASB10 ankyrin repeat and SOCS box containing 10 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008] 7 7 7 q36.1 145430126 145442260 - 150872785 150884919 - 151175698 151187832 - 1580863;6480464;7240710;8554872 12076535;12477932;12690205;14702039;15489334;16325183;16344560;21988832;22156576;22798626;23455924;23901248;24337577 136371 F8WB38;Q8WXI3 AACC02000108;ABBA01035161;ABBA01035162;AC010973;AF417920;AK055536;AK125565;AK315114;AMYH02017071;BC126351;CH471173;DA898875;NG_017016;NM_001142459;NM_001142460;NM_080871;XM_005249949 AAI26352;AAL59159;BAC86204;EAL24504;EAW54020;EAW54021;EAW54022;NP_001135931;NP_001135932;NP_543147;Q8WXI3;XP_005250006 Hs.647081 GLC1F OTTHUMP00000211301;OTTHUMP00000211302;OTTHUMP00000211303;ankyrin repeat and SOCS box protein 10;ankyrin repeat and SOCS box-containing 10;glaucoma 1, open angle, F (adult-onset) APPROVED protein-coding ENSG00000146926 HGNC:17185 603383;615054 REVIEWED 1321264 ASB13 ankyrin repeat and SOCS box containing 13 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010] 10 10 10 p15.1 5611177 5638957 - 5680820 5708558 - 5638857 5666595 - 1580863;6480464 12076535;12477932;14702039;15164054;15342556;15489334;16169070;16189514;16325183;20677014;21145461;21900206;24337577;24529757 79754 Q8WXK3 ABBA01034772;ABBA01034773;ABBA01034774;ABBA01034775;AF403031;AI377400;AK023196;AK091935;AK292071;AL365356;AMYH02022046;BC012056;BG436652;BP249999;CH471072;CR457302;NM_024701;NR_024581;NR_037164;XM_006717507 AAH12056;AAL57350;BAB14456;BAF84760;CAG33583;EAW86435;EAW86436;EAW86437;EAW86438;EAW86439;NP_078977;Q8WXK3;XP_006717570 Hs.445899 1721953;1787546;2157283 G59862;RH46010;SHGC-155672 FLJ13134;MGC19879 OTTHUMP00000019006;ankyrin repeat and SOCS box protein 13;ankyrin repeat and SOCS box-containing 13;ankyrin repeat domain-containing SOCS box protein Asb-13 APPROVED protein-coding ENSG00000196372 HGNC:19765 10667 615055 REVIEWED 1349928 ASB12 ankyrin repeat and SOCS box containing 12 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011] X X X q11.2 63790909 63792336 - 63444072 63450511 - 64224192 64230631 - 1580863;6480464;8554872 12076535;12477932;14702039;15489334;15772651;16325183;16344560;18976975;20211142;24337577;7566098 142689 Q8WXK4 AA349954;ABBA01066881;ABBA01066882;AF403030;AK096896;AK300684;AL356317;AMYH02039596;BC069436;BC069555;BC093883;BC104946;CH471132;DA560184;NG_012823;NM_130388 AAH69436;AAH69555;AAH93883;AAI04947;AAL57349;BAC04888;BAG62367;EAX05414;NP_569059;Q8WXK4 Hs.56281 1699460;1771385;5492429 RH103321;RH41896;UniSTS:480997 FLJ39577 OTTHUMP00000023429;ankyrin repeat and SOCS box protein 12;ankyrin repeat and SOCS box-containing 12;ankyrin repeat domain-containing SOCS box protein Asb-12 APPROVED protein-coding ENSG00000198881 HGNC:19763 06451 300891 REVIEWED 1603501 ASB16-AS1 ASB16 antisense RNA 1 INTERACTS WITH cyclosporin A; paracetamol; quercetin 17 17 17 q21.31 38962081 38972816 - 42253341 42264085 - 44175973 44186717 - 6480464 12477932;14702039;15146197;15862967;16344560;16712791 339201 Q495Z4 ABBA01028383;ABBA01028384;AC004596;AK055685;AL833953;AMYH02033472;BC009448;BC100964;BC100965;BC100966;BC100967;CB151608;CH471178;CN367999;DA567080;HG509081;HG509083;HG509084;NR_049729;NR_049730 AAH09448;AAI00965;AAI00966;AAI00967;AAI00968;BAG51556;EAW51625;EAW51626;Q495Z4 Hs.656564 5118576;5492847 D11S3430;UniSTS:483028 C17orf65;DKFZp762C2414;MGC119234 hypothetical protein LOC339201;uncharacterized protein C17orf65 APPROVED ncrna ENSG00000267080 HGNC:25442 13231 VALIDATED 1343044 ASB14 ankyrin repeat and SOCS box containing 14 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008] 3 3 3 p21.1 57267953 57292330 - 57302379 57326753 - 57268351 57292725 - 1580863;6480464;8554872 10737800;12076535;12477932;16325183;24337577 142686 A6NK59 ABBA01024422;AC093928;AF403032;AL832472;AMYH02006863;AMYH02006864;BC114953;BE004392;CH471055;NM_001142733;NM_130387;XM_005264884;XM_005264885;XM_006712982 A6NK59;AAI14954;AAL57351;EAW65337;EAW65338;NP_001136205;NP_569058;XP_005264941;XP_005264942;XP_006713045 Hs.665154;Hs.745243 1650567;1675937;1735162 D3S2814E;RH99000;SHGC-77071 DKFZp313L0121 OTTHUMP00000213143;ankyrin repeat and SOCS box protein 14;ankyrin repeat and SOCS box-containing 14;ankyrin repeat domain-containing SOCS box protein Asb-14 APPROVED protein-coding ENSG00000239388 HGNC:19766 10668 REVIEWED 1313384 ASB16 ankyrin repeat and SOCS box containing 16 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38956789 38965185 + 42248074 42256650 + 44170706 44179083 + 1580863;6480464 12076535;12477932;14702039;15489334;16325183;17474147;20379614;24337577 92591 K7ELE0;K7EM41;Q96NS5 ABBA01028384;ABBA01028385;AC004596;AF403034;AK054727;AK314595;AMYH02033472;AY557346;BC075088;BC118584;BC118585;CH471178;NM_080863 AAH75088;AAI18585;AAI18586;AAL57353;AAS67920;BAB70800;BAG37167;EAW51627;EAW51628;NP_543139;Q96NS5 Hs.534517 5022651;5492521 D11S2921;UniSTS:481453 FLJ30165;MGC141876;MGC141877 ankyrin repeat and SOCS box protein 16;ankyrin repeat and SOCS box-containing 16;ankyrin repeat and SOCS box-containing protein 16 APPROVED protein-coding ENSG00000161664 HGNC:19768 10670 615056 REVIEWED 1346506 ASB15 ankyrin repeat and SOCS box containing 15 This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 7 7 7 q31.31 118052868 118081688 + 123241882 123277951 + 123601836 123637897 + 1580863;6480464;8554872 12076535;12477932;14702039;16012773;16325183;17672918;24337577 142685 C9J956;Q8WXK1 ABBA01057731;AC006333;AF403033;AF428257;AK125360;AMYH02016680;AMYH02016681;BC100874;BC100875;BC100876;BC100877;CH236947;CH471070;CR749595;NG_034019;NM_001290258;NM_080928;XM_005250144;XM_005250145;XM_005250146;XM_005250147;XM_005250148;XM_005250149;XM_006715853 AAI00875;AAI00876;AAI00877;AAI00878;AAI66689;AAL57352;AAP97297;AAQ96857;BAC86146;CAH18393;EAW83594;EAW83595;EAW83596;NP_001277187;NP_563616;Q8WXK1;XP_005250201;XP_005250202;XP_005250203;XP_005250204;XP_005250205;XP_005250206;XP_006715916 Hs.83916 1678675 RH98583 ASB-15;DKFZp779M1258;FLJ43370 OTTHUMP00000211495;OTTHUMP00000211496;OTTHUMP00000211497;OTTHUMP00000211498;ankyrin repeat and SOCS box protein 15;ankyrin repeat and SOCS box-containing 15 APPROVED protein-coding ENSG00000146809 HGNC:19767 10669 REVIEWED 1602398 ASB18 ankyrin repeat and SOCS box containing 18 INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); INTERACTS WITH choline (ortholog); folic acid (ortholog); L-methionine (ortholog) 2 2 2 q37.2 230816647 230886004 - 237103515 237172988 - 236194872 236264345 - 6480464 12076535;16325183;20339536;23722424;24337577 401036 C9JFL4;H7C3E8;Q6ZVZ8 ABBA01042571;ABBA01042572;AC019068;AC079135;AK123854;AMYH02006051;AMYH02006052;AMYH02006053;AMYH02006054;BX647589;NM_212556 AAI72346;BAC85710;NP_997721;Q6ZVZ8 Hs.639909 1659351;1784166;5015619;5037552 D11S3114;D2S1972;D8S2279;SHGC-155069 ASB-18;DKFZp313I1130 OTTHUMP00000203076;ankyrin repeat and SOCS box protein 18;ankyrin repeat and SOCS box-containing 18 APPROVED protein-coding ENSG00000182177 HGNC:19770 16514 PROVISIONAL 1343895 ASB17 ankyrin repeat and SOCS box containing 17 INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); INTERACTS WITH copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p31.1 74624762 74638320 - 76384558 76398116 - 75918873 75932431 - 1580863;6480464 12076535;12477932;14702039;15204681;15489334;16325183;17207965;22939624;24337577 127247 Q4G1B1;Q8WXJ9 ABBA01074414;AC092813;AF403035;AF429968;AK098606;AL445464;AMYH02001286;AMYH02001287;BC022517;BC036573;CH471059;HC006782;HC044789;NM_080868;NR_026546;XM_006710345;XM_006710346 AAH22517;AAH36573;AAL57354;AAN85310;ADQ32483;BAC05350;CBH19197;CBH30724;EAX06391;NP_543144;Q8WXJ9;XP_006710408;XP_006710409 Hs.125423 2113684 AB071128 Asb-17 OTTHUMP00000011348;ankyrin repeat and SOCS box protein 17;ankyrin repeat and SOCS box-containing 17 APPROVED protein-coding ENSG00000154007 HGNC:19769 10671 VALIDATED 1315012 ASB2 ankyrin repeat and SOCS box containing 2 This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 14 14 14 q31-q32 74454282 74477544 - 94400499 94443085 - 93934153 93976739 - 1580863;6480464;8554872 11111040;11566180;11682484;12076535;12477932;14702039;15014966;15231748;15489334;15590664;16325183;18029348;18799729;19159283;19300455;19376791;21119685;21737450;21750192;21969365;22174154;22382022;22916308;22939624;24044920;24052262;24337577;9419338 51676 G3V2Z2;G3V3P8;G3V484;G3V4B2;Q96Q27 AB056723;AB488462;ABBA01030427;AF159164;AJ251238;AK002049;AK057078;AK093271;AK303686;AK315628;AL079302;AL132642;AL137735;AMYH02029776;AMYH02029777;AMYH02029778;BC032354;CH471061;NM_001202429;NM_016150;XM_005267758;XM_006725165 AAD45345;AAH32354;ABM82256;ABM85439;BAB64532;BAG37996;BAG51006;BAG51858;BAG64678;BAI77868;CAB70899;CAC17765;EAW81540;EAW81541;EAW81542;EAW81543;NP_001189358;NP_057234;Q96Q27;XP_005267815;XP_006725228 Hs.510327 1650498 RH65774 ASB-2;MGC40044 OTTHUMP00000245755;OTTHUMP00000245756;OTTHUMP00000245757;ankyrin repeat and SOCS box protein 2;ankyrin repeat and SOCS box-2 containing protein;ankyrin repeat and SOCS box-containing protein 2a;ankyrin repeat-containing protein ASB-2 APPROVED protein-coding ENSG00000100628 HGNC:16012 05768 605759 REVIEWED 1348810 ASB4 ankyrin repeat and SOCS box containing 4 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008] 7 7 7 q21-q22 89814002 89865786 + 95115213 95169543 + 95485901 95540231 + 1580863;6480464;8554872 11076863;11111040;12076535;12477932;12690205;12853948;14702039;15929745;17276034;17636018;22939624;24337577;24586788 51666 Q9Y574 ABBA01045776;ABBA01045777;AC002451;AC003079;AF156779;AK096449;AMYH02016291;BC025024;BC113479;BC113481;CH236949;CH471091;NM_016116;NM_145872 AAB83943;AAD41896;AAH25024;AAI11595;AAI13480;AAI13482;ADR83137;EAL24129;EAL24130;EAW76760;EAW76761;EAW76762;NP_057200;NP_665879;Q9Y574 Hs.602765;Hs.737518 1335993;1339980;1691392;2107859;5095092;7185349;7186554 ASB4_8047;D7S2431;D7S2482;G42093;MARC_51748-51749:1152645132:4 ASB-4;MGC142039;MGC142041 OTTHUMP00000204731;OTTHUMP00000204732;ankyrin repeat and SOCS box protein 4;ankyrin repeat and SOCS box-containing 4 APPROVED protein-coding ENSG00000005981 HGNC:16009 05770 605761 REVIEWED 1318243 ASB3 ankyrin repeat and SOCS box containing 3 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011] 2 2 2 p16.2 53737972 53854933 - 53897117 54014146 - 53669980 53787009 - 6480464 11111040;11509662;12076535;12477932;14702039;15489334;15899873;16344560;17353931;18187417;19322201;21145461;21988832;22939624;23251661;23455924;24250222;24337577;8125298 51130 B4DZX6;Q9Y575 AB209795;ABBA01075236;ABBA01075237;AC007883;AC008064;AF156778;AK000985;AK001283;AK056069;AK222595;AK222715;AK303133;AMYH02003835;AX875799;BC006488;BC009569;CH471053;DA038561;DB558848;NM_001201965;NM_016115;NM_145863 AAD41895;AAH06488;AAH09569;AAX93180;AAY24350;ABM84179;ABM87581;BAA91455;BAA91599;BAD93032;BAD96315;BAD96435;BAG51615;BAG64238;CAE89009;EAX00167;EAX00168;EAX00169;EAX00170;EAX00171;NP_001188894;NP_057199;NP_665862;Q9Y575 Hs.40763 1673255;1715515;1847441;2168157;2173021;2217032 A006Z48;ASB3_3822;D2S2570;G27383;RH120980;SHGC-12264 ASB-3;FLJ10123;FLJ10421;MGC12531;MGC132002;MGC996 OTTHUMP00000159607;OTTHUMP00000198696;OTTHUMP00000200612;OTTHUMP00000200662;ankyrin repeat and SOCS box protein 3;ankyrin repeat and SOCS box-containing 3 APPROVED protein-coding ENSG00000115239 HGNC:16013 05769 605760 REVIEWED 1318216 ASB6 ankyrin repeat and SOCS box containing 6 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011] 9 9 9 q34.13 103047698 103055260 - 132396883 132404496 - 129634604 129642217 - 6480464 12076535;12477932;14702039;15231829;15489334;16325183;16344560;16751776;17207965;19159283;19322201;21139048;21145461;21832049;22053931;22797925;22863883;22939624;24337577;8125298 140459 B4DRC4;Q9NWX5 ABBA01043939;AK000555;AK023004;AK093539;AK225618;AK292807;AK299193;AL390135;AL590369;AMYH02021741;BC001719;BC065913;BX648923;CH471090;CR627462;DA953275;NM_001202403;NM_017873;NM_177999;XM_005251713 AAH01719;AAH65913;ACE86653;ACE87335;ADQ32604;ADZ15715;BAA91250;BAB14355;BAF85496;BAG61236;CAH10563;EAW87896;EAW87897;EAW87898;EAW87899;EAW87900;NP_001189332;NP_060343;NP_821066;Q9NWX5;XP_005251770 Hs.125037 1689053;1852246;2110265;5014029;5015619;5020740;5020946;5022578;5022651;5024039;5037552 ASB6_8143;D11S2921;D11S3114;D13S1639;D16S325;D1S1423;D8S2279;L17809;L17971;RH93952;SGC32655 ASB-6;FLJ20548;MGC1024 OTTHUMP00000022342;OTTHUMP00000022343;ankyrin repeat and SOCS box protein 6;ankyrin repeat and SOCS box-containing 6 APPROVED protein-coding ENSG00000148331 HGNC:17181 10673 615051 REVIEWED 1352084 ASB5 ankyrin repeat and SOCS box containing 5 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008] 4 4 4 q34.2 174462813 174518217 - 177134824 177198722 - 176213673 176277571 - 1580863;6480464;8554872 12076535;12477932;14702039;15489334;17207965;20379614;24337577 140458 D6R9Q2;Q5HYF3;Q8WWX0 ABBA01070411;ABBA01070412;AC019163;AC093605;AK096441;AK098693;AMYH02010552;AMYH02010553;AMYH02010554;AMYH02010555;AY057053;BC065710;BX647857;CH471056;NM_080874;XM_005262759;XM_005262760 AAH65710;AAL18248;ADQ32071;BAC04791;BAC05382;CAI46074;EAX04720;NP_543150;Q8WWX0;XP_005262816;XP_005262817 Hs.591712 ASB-5 OTTHUMP00000218996;OTTHUMP00000218997;SOCS box protein ASB-5;ankyrin repeat and SOCS box protein 5;ankyrin repeat and SOCS box-containing 5 APPROVED protein-coding ENSG00000164122 HGNC:17180 10672 615050 REVIEWED 1313017 ASB7 ankyrin repeat and SOCS box containing 7 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 77556003 77605160 + 101142755 101191906 + 100602550 100651701 + 6480464;8554872 12076535;12477932;14702039;15203218;16159877;16325183;17207965;18029348;21145461;21988832;22797925;23006423;24250222;24337577;8125298 140460 H0YMJ1;Q9H672 AA830153;ABBA01020536;AC090695;AF451994;AK026204;AK057921;AK094123;AK222958;AK222974;AK289860;AMYH02031162;AMYH02031163;AMYH02031164;BC025252;BC063581;BQ933001;CD632230;CH471101;NM_024708;NM_198243 AAH63581;AAP97683;ADQ32570;BAB15392;BAD96678;BAD96694;BAF82549;EAX02274;EAX02275;EAX02276;EAX02277;NP_078984;NP_937886;Q9H672 Hs.31845;Hs.709044 1650456;1682912;1758427;2138680;2149886;2217034 ASB7_3711;D15S1314;RH93847;SHGC-148298;SHGC-52663;STS-N20924 ASB-7;FLJ22551;FLJ25192 OTTHUMP00000194832;OTTHUMP00000194833;ankyrin repeat and SOCS box protein 7;ankyrin repeat and SOCS box-containing 7 APPROVED protein-coding ENSG00000183475 HGNC:17182 10674 615052 REVIEWED 1319481 ASB8 ankyrin repeat and SOCS box containing 8 INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2-methylcholine; valproic acid; 17alpha-ethynylestradiol (ortholog) 12 12 12 q13.11 47339076 47348938 - 48541572 48551377 - 48147789 48157594 - 1580863;6480464 12076535;12477932;12559969;14702039;15489334;16341674;17207965;18029348;19159283;20211142;21988832;24250222;24337577 140461 B4DLI4;F5GYF0;F5GZZ3;F5H023;F5H243;F5H5S9;F5H6A7;F5H772;F5H7B4;F8VS92;Q9H765 ABBA01031475;ABBA01031476;AC074029;AF464877;AK024908;AK125596;AK289957;AK297013;AMYH02026419;BC001321;BM837218;BQ009637;CH471111;CR457336;NM_024095;XM_005268654 AAH01321;AAQ04830;ADQ31852;BAB15033;BAC86214;BAF82646;BAG59546;CAG33617;EAW57976;NP_077000;Q9H765;XP_005268711 Hs.432699 1337159;1779330;2109065;2171412;5015619;5015861;5022200;5022450;7185938 ASB8_8144;D10S16;D10S275;D11S3114;DXS8011;L18426;SHGC-153332;WI-15661 ASB-8;FLJ21255;MGC5540;PP14212 OTTHUMP00000237000;OTTHUMP00000237001;OTTHUMP00000237007;OTTHUMP00000237009;OTTHUMP00000237010;ankyrin repeat and SOCS box protein 8;ankyrin repeat and SOCS box-containing 8 APPROVED protein-coding ENSG00000177981 HGNC:17183 10675 615053 VALIDATED 1344669 ASB9 ankyrin repeat and SOCS box containing 9 This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X p22.2 19377104 19404177 - 15262109 15288589 - 15243987 15270467 - 1580863;6480464 12076535;12477932;14702039;15489334;16189514;16325183;16344560;17148442;18029348;18680464;19060904;19159283;19275750;20211142;20302626;20878058;22418839;23806657;23837592;24337577;24654937 140462 Q7Z4A2;Q96DX5;R4GN94 ABBA01071278;ABBA01071279;ABBA01071280;ABBA01071281;ABBA01071282;ABBA01071283;AC095351;AK000643;AK292270;AL080091;AMYH02038912;AY337578;BC001244;BC013172;CH471074;DA943920;NG_016218;NM_001031739;NM_001168530;NM_001168531;NM_024087;XM_005274446;XM_005274448;XM_006724465;XM_006724466 AAH01244;AAH13172;AAQ17469;BAA91302;BAF84959;CAB45706;EAW98870;EAW98871;EAW98872;EAW98873;EAW98874;EAW98875;EAW98876;NP_001026909;NP_001162002;NP_001162003;NP_076992;Q96DX5;XP_005274503;XP_005274505;XP_006724528;XP_006724529 Hs.19404 1698814;1761867 RH102971;SHGC-145813 ASB-9;DKFZp564L0862;FLJ20636;MGC4954 OTTHUMP00000022955;OTTHUMP00000022956;OTTHUMP00000022957;ankyrin repeat and SOCS box protein 9;ankyrin repeat and SOCS box-containing 9;ankyrin repeat and suppressor of cytokine signaling box protein 9 APPROVED protein-coding ENSG00000102048 HGNC:17184 06452 300890 REVIEWED 1350086 ASCC1 activating signal cointegrator 1 complex subunit 1 This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 10 10 10 pter-q25.3 67139520 67259405 - 73855790 73976892 - 72096032 72217232 - 1580863;5128512;6480464;8699517;7240710 16394250 10567404;10810093;12077347;12477932;14702039;15489334;16344560;16385451;17207965;19074642;19322201;19680556;21139048;21791690;21890473;21906983;21963094;23000965;24250222 51008 B3KU20;E9PJM2;E9PKM6;E9PL92;E9PM82;E9PQ44;E9PQZ6;E9PR40;H0YCB3;H0YE76;H0YE79;H0YER2;Q8N9N2 AA805081;ABBA01020360;ABBA01020361;ABBA01020362;ABBA01020363;ABBA01020364;ABBA01020365;ABBA01020366;AC022392;AF132952;AK023436;AK094170;AK096409;AK124364;AK298302;AL359339;AL607035;AMYH02023306;AMYH02023307;AMYH02023308;AMYH02023309;AW006945;AY013290;BC012291;CD706699;CH471083;DA297980;DA582532;DA942671;DA951859;DC361917;NG_031890;NM_001198798;NM_001198799;NM_001198800;NR_045564;XM_005269878;XM_006717872;XM_006717873;XM_006717874;XM_006717875;XM_006717876 AAD27727;AAG45476;AAH12291;ADQ32766;BAC04299;BAG51193;BAG53282;BAH12754;EAW54444;EAW54445;EAW54446;EAW54447;NP_001185727;NP_001185728;NP_001185729;Q8N9N2;XP_005269935;XP_006717935;XP_006717936;XP_006717937;XP_006717938;XP_006717939 Hs.500007 1666750;1700932;1721073;1736020;1739587;2115005;2148615;2161901;2167187;2218258;5022578;5024039 ASCC1_4380;D10S1300E;D10S1349E;D10S1351E;D16S325;D1S1423;D9S1745E;G59519;RH104093;RH137;SHGC-5957;WI-17675 ASC1p50;CGI-18;RP11-150D20.4;p50 ASC-1 complex subunit P50;OTTHUMP00000019781;OTTHUMP00000019782;OTTHUMP00000019783;OTTHUMP00000019784;OTTHUMP00000229899;OTTHUMP00000229901;trip4 complex subunit p50 APPROVED protein-coding ENSG00000138303 HGNC:24268 614215;614266 REVIEWED 4140134 ASB9P1 ankyrin repeat and SOCS box containing 9 pseudogene 1 15 15 15 q26.1 69750740 69752364 + 93338714 93340338 + 92795484 92797108 + 728619 ABBA01053097;AC106028;AMYH02031074;BG059734;NR_033769 Hs.684129 APPROVED pseudo HGNC:20972 PROVISIONAL 1344771 ASCC3 activating signal cointegrator 1 complex subunit 3 This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 6 6 6 q16 101600815 101973409 - 100956325 101329243 - 100508194 100881372 - 1580863;6480464;8554872 10218103;11076863;11230166;11256614;12077347;12477932;14702039;15146197;15231748;15489336;16381901;17000644;18029348;19596686;19615732;19913121;19946888;20379614;20453000;20628086;21139048;21145461;21890473;21906983;21963094;22055184;22505724;22566634;22586326;23000965;23022380;23667531;23781071;24163370;24639526;24816145;8889548 10973 B4DR60;E5RFZ0;J3KNJ4;Q8N3C0 AA788717;ABBA01014466;ABBA01014467;ABBA01014468;ABBA01014469;ABBA01014470;AI803859;AJ223948;AK023189;AK299117;AK307903;AK315197;AL121965;AL133338;AL356122;AL513207;AL591585;AL834463;AMYH02014195;AMYH02014196;AMYH02014197;AY013288;BC014358;BC026066;BC039857;BC050681;BC125211;BC125212;BC130038;BU686034;BX415629;CH471051;CN255848;NM_001284271;NM_006828;NM_022091;XM_006715322;Z86062 AAG45474;AAH26066;AAH50681;AAI25212;AAI25213;AAI50216;BAG37637;BAG61172;CAA11679;CAD39122;CAL38260;EAW48449;EAW48450;NP_001271200;NP_006819;NP_071374;Q8N3C0;XP_006715385 Hs.486031;Hs.733060 1646578;1671003;1672638;1718161;1718311;1727457;1727525;1752163;1774817;2122507;2146941;5021341;5491579;5492005 AFM176xg9;D6S1153E;D6S1409;G62986;G63020;MARC_10283-10284:998926151:3;MARC_21686-21687:1044297767:1;RH122848;RH122927;RH65182;RH67970;SGC38363;SHGC-106043;ksks1 ASC1p200;DJ467N11.1;HELIC1;MGC26074;RNAH;dJ121G13.4;p200 ASC-1 complex subunit P200;B630009I04Rik;OTTHUMP00000016904;OTTHUMP00000016905;RNA helicase family;helicase, ATP binding 1;trip4 complex subunit p200 protein-coding ENSG00000112249 HGNC:18697 09980;16805 614217 REVIEWED 736393 ASCL1 achaete-scute family bHLH transcription factor 1 This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008] 12 12 12 q23.2 103015725 103018566 + 103351452 103354294 + 102957674 102960516 + 1300289;1580863;2314146;2314147;6480464;7240710;8554872;8699517 11564418;16730914;8221886 10656681;10903890;11171979;11309412;11564735;11736660;11825874;11940670;11948117;12000752;12050665;12477932;12858003;14532329;14668716;14759067;15240857;15272537;15489334;15492808;15701827;16021468;16029117;16103883;16160079;16344560;16899352;17507989;17923682;18311112;18339843;18491256;18585058;18587321;18587322;18802035;19008346;19097999;19176379;19744316;20097173;20124469;20206680;20301600;20515335;20538960;20659153;20677557;20842449;21300955;21495212;21573214;21684625;21737174;21856745;22172490;22422124;23300791;23375646;23530560;23657976;23707066;23739064;23739972;24037524;24982138;8390674;8595908;8662987;8900141;8948587;9126746;9186001;9197246 429 P50553 ABBA01053222;AC026108;AK290539;AMYH02027078;AW071836;BC001638;BC002341;BC003134;BC004425;BC031299;CF454566;CH471054;DA005289;L08424;NG_008950;NM_004316 AAA58376;AAH02341;AAH03134;AAH04425;AAH31299;ABM85497;ABW03754;BAF83228;EAW97703;NP_004307;P50553 Hs.703025 1682213;1744039;1762319;1795402;1847801;2147997;2153903 ASCL1_704;G10653;GDB:384904;RH92884;SHGC-146165;STS-L08424;WI-9226 ASH-1;ASH1;HASH1;MASH1;bHLHa46 OTTHUMP00000242539;achaete scute protein;achaete-scute complex homolog 1;achaete-scute complex homolog-like 1 (drosophila);achaete-scute complex-like 1;achaete-scute homolog 1;class A basic helix-loop-helix protein 46 APPROVED protein-coding ENSG00000139352 HGNC:738 00011 100790;209880 REVIEWED 1347917 ASCC2 activating signal cointegrator 1 complex subunit 2 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; elemental selenium 22 22 22 q12.1 13984318 14033974 - 30184597 30234293 - 29788608 29838304 - 6480464 10591208;12077347;12477932;14702039;15231748;15342556;15489334;16009131;16169070;18029348;20211142;21139048;21906983;21988832;24478790;24816145;8125298;9847074 84164 B1AH59;B1AH60;F2Z2W4;F8WAQ6;H7C395;H7C3Y4;Q9H1I8 AA765659;ABBA01055281;ABBA01055282;ABBA01055283;ABBA01055284;AC004882;AK022886;AK025241;AK222723;AK223033;AK303257;AL096741;AMYH02038208;AY013289;BC025368;BC032760;BP201867;BQ017078;BU508026;CH471095;NM_001242906;NM_032204;XM_005261775;XM_005261776;XM_005261777;XM_005261778;XM_005261779;XM_006724334;XM_006724335;XM_006724336;XM_006724337;Z82171 AAG45475;AAH25368;BAB14293;BAB15089;BAD96443;BAD96753;BAH13926;CAH56409;EAW59842;EAW59843;EAW59844;EAW59845;EAW59846;EAW59847;EAW59848;NP_001229835;NP_115580;Q9H1I8;XP_005261832;XP_005261833;XP_005261834;XP_005261835;XP_005261836;XP_006724397;XP_006724398;XP_006724399;XP_006724400 Hs.731754 5017627;5021878 ASCC2;ha1770 ASC1p100;p100 ASC 1 complex subunit P100;ASC-1 complex subunit P100;OTTHUMP00000070973;OTTHUMP00000199727;trip4 complex subunit p100 protein-coding ENSG00000100325 HGNC:24103 16515 614216 VALIDATED 735625 ASCL2 achaete-scute family bHLH transcription factor 2 This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 2325551 2328006 - 2289728 2292182 - 2268498 2270952 - 1580863;6480464 10757985;11440538;12099555;12477932;12482968;12670868;12917334;14561729;16568095;17165436;20479215;20856196;22384170;23181270;23936387;24463518;8751384;9175731;9610003 430 Q99929 ABBA01032096;ABBA01032097;AC129929;AF442769;AMYH02024187;BC028140;BC057801;BC136561;BC136567;NM_005170;S82817;U77629 AAB39362;AAB86993;AAH57801;AAI36562;AAI36568;AAL35362;NP_005161;Q99929 Hs.152475 1792994;1806878;1816836;1816918;1829630;1835798;1844924;2092396;2092398;2092400;2092402;2092404;2092406;2092408;2092410;2092412;2092414;2092416;2092418;2092420;2216880;2216882 ECD04404;ECD09464;ECD09508;ECD15947;ECD19060;ECD23678;PMC180905P1;REN117481;REN117482;REN117483;REN117484;REN117485;REN117486;REN117487;REN117488;REN117489;REN117490;REN117491;REN117492;REN117493;stSG548787;stSG548788 ASH-2;ASH2;HASH2;MASH2;bHLHa45 OTTHUMP00000011229;achaete-scute complex homolog 2;achaete-scute complex homolog-like 2 (drosophila);achaete-scute complex-like 2;achaete-scute homolog 2;class A basic helix-loop-helix protein 45;mammalian achaete/scute homologue 2 APPROVED protein-coding ENSG00000183734 HGNC:739 03533 601886 VALIDATED 1351055 ASD1 atrial septal defect 1 ASSOCIATED WITH Atrial Septal Defect 1 (inferred) 7240710 9610535 431 HGNC:741 108800 1323657 ASF1A anti-silencing function 1A histone chaperone This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008] 6 6 6 q22.31 119959803 119974994 + 119215241 119230336 + 118894077 118909171 + 6480464;9068945 23288364 10759893;10810093;11042152;11172707;11230166;11256614;11470414;11897662;12093919;12477932;12660173;12842904;14718166;15073177;15213445;15621527;15664198;15840725;16169070;16344560;16980972;17054786;17207965;17242207;17292837;17293877;17328667;17940067;18096807;18378699;18971269;19029251;19305408;19410544;19862764;20016786;20227376;20308539;20393127;20504901;20800603;21055984;21113133;21347226;21414300;21724829;21807893;22247756;22401310;22407294;22863883;22951827;23075851;23178455;23222847;24209620;24413054;24700029;24816145;25035411 25842 Q9Y294 AA481056;AB028628;ABBA01026024;AC247045;AF151856;AF161495;AF279306;AK025738;AL050261;AL132874;BC010878;CH471051;CR457347;DA902777;FP885910;NM_014034 AAD34093;AAF29110;AAH10878;AAK82972;ADQ32460;BAA96542;BAB15228;CAB43363;CAG33628;EAW48193;NP_054753;Q9Y294 Hs.292316 1700536 RH103889 CGI-98;CIA;DKFZp547E2110;HSPC146;hAsf1;hAsf1a;hCIA ASF1 anti-silencing function 1 homolog A;CCG1-interacting factor A;OTTHUMP00000218808;anti-silencing function 1A;anti-silencing function protein 1 homolog A;histone chaperone ASF1A APPROVED protein-coding ENSG00000111875 HGNC:20995 16459 609189 REVIEWED 1315779 ASCL3 achaete-scute family bHLH transcription factor 3 Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] 11 11 11 p15.3 9078881 9084342 - 8959119 8964580 - 8937572 8943033 - 1580863;6480464 11528127;11784080;15475265;18029348;20211142;21832049 56676 Q9NQ33 AB046450;ABBA01061203;AC026894;AJ400877;AMYH02024299;CH471064;NM_020646 AAI41566;AAI46583;BAB83913;CAB92288;EAW68610;NP_065697;Q9NQ33 Hs.501852 2218260 ASCL3_4381 ASH-3;HASH3;SGN1;bHLHa42 achaete-scute complex homolog 3;achaete-scute homolog 3;bHLH transcription factor Sgn-1 (Salivary Glands 1);bHLH transcriptional regulator Sgn-1;class A basic helix-loop-helix protein 42 APPROVED protein-coding HGNC:740 18523 609154 PROVISIONAL 1316784 ASCL4 achaete-scute family bHLH transcription factor 4 Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] 12 12 12 q23.3 107833712 107835971 + 108168162 108170421 + 107774385 107776644 + 6480464 12477932;12617822;14516699;15475265;19166906;22549224 121549 Q6XD76 ABBA01053147;AC007622;AI290227;AMYH02027147;AY238895;BC128211;BC128212;BK000275;NM_203436 AAI28212;AAI28213;AAP69222;DAA01055;NP_982260;Q6XD76 Hs.149910 2219010;5493333 ASCL4_4382;UniSTS:485742 ASH-4;HASH4;bHLHa44 OTTHUMP00000211168;achaete-scute complex homolog 4;achaete-scute complex-like 4;achaete-scute complex-like 4 (drosophila);achaete-scute homolog 4;achaete-scute-like protein 4;class A basic helix-loop-helix protein 44;class II bHLH protein ASCL4 APPROVED protein-coding ENSG00000187855 HGNC:24311 12374 609155 VALIDATED 1312634 ASF1B anti-silencing function 1B histone chaperone This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14124596 14141712 - 14230321 14247440 - 14119509 14136628 - 6480464;9586017;9068945;8554872 21179005;23288364 11470414;11897662;12477932;12842904;14702039;14718166;15020040;15146197;15664198;16751776;16980972;17054786;17328667;17353931;17940067;18096807;18378699;19913121;20016786;20133788;20227376;20504901;20628086;20651253;20953179;21055984;21113133;21139048;21890473;21906983;21963094;21987572;22407294;22505724;22939629;23075851;23100276;23178455;24209620;24413054;8125298 55723 K7EIL9;K7ELW9;K7EM93;K7ES22;Q9NVP2 AB104486;ABBA01029688;ABBA01029689;AC022098;AF279307;AK001288;AK001466;AK223080;AK302134;AMYH02035606;AMYH02035607;BC007726;BC010014;BC036521;CH471106;CN426445;CR457235;DQ587892;NM_018154 AAH07726;AAH10014;AAH36521;AAK82973;ACT64480;ACT64481;BAA91602;BAA91708;BAC87709;BAD96800;BAG63508;CAG33516;EAW84401;EAW84402;NP_060624;Q9NVP2 Hs.26516 1658265 WI-14108 CIA-II;FLJ10604;hAsf1;hAsf1b;hCIA-II ASF1 anti-silencing function 1 homolog B;CCG1-interacting factor A-II;OTTHUMP00000197277;anti-silencing function protein 1 homolog B;histone chaperone ASF1B APPROVED protein-coding ENSG00000105011 HGNC:20996 16460 609190 REVIEWED 1603722 ASCL5 achaete-scute family bHLH transcription factor 5 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q32.1 174207616 174223353 - 201083081 201084500 - 201113953 201115372 - 6480464 647219 M0R2M9;Q7RTU5 ABBA01027535;AI274185;AI791516;AL139159;AMYH02002476;NG_009816;NM_001270601 NP_001257530;Q7RTU5 Hs.143949;Hs.721460 ASH-5;bHLHa47;hASH5 achaete-scute complex homolog 5;achaete-scute complex homolog 5 (Drosophila);achaete-scute homolog 5;class A basic helix-loop-helix protein 47 APPROVED protein-coding ENSG00000232237 HGNC:33169 VALIDATED 1343618 ASGR2 asialoglycoprotein receptor 2 This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 17 17 17 p 7030159 7043834 - 7004641 7018292 - 7101322 7115522 - 1580863;6480464 10859341;11408579;11543633;11943787;12089159;12119473;12167617;12171918;12359251;12477859;12477932;1371982;15489334;15946216;1597447;16335952;18029348;18855599;1924301;19520807;19576873;19663694;20237496;20364278;20703846;21062743;21063834;21103663;21207081;21656538;21917589;21988832;22096539;23604802;2834401;3863106;7843709;7844558;8397210;9349295 433 I3L1H2;P07307;Q7Z4G9 ABBA01054848;ABBA01054849;ABBA01054850;AC120057;AF529374;AK303787;AK310123;AMYH02032886;AMYH02032887;BC017251;BM561839;BX483468;CH471108;DC315727;M11025;NG_029064;NM_001181;NM_001201352;NM_080912;NM_080913;NM_080914;U97197;X55283;X55284;XM_005256645;XM_005256648;XM_006721522;XM_006721523;XM_006721524;XM_006721525;XM_006721526 AAB58308;AAB59519;AAH17251;AAQ09608;ABM83578;ABM86817;BAG64744;CAA38997;EAW90259;EAW90260;EAW90261;EAW90262;EAW90263;EAW90264;NP_001172;NP_001188281;NP_550434;NP_550435;NP_550436;P07307;XP_005256702;XP_005256705;XP_006721585;XP_006721586;XP_006721587;XP_006721588;XP_006721589 Hs.654440 1681762;1771562;2122601 RH80271;STS-T67921;WI-11341 ASGP-R;ASGP-R 2;ASGP-R2;ASGPR 2;ASGPR2;CLEC4H2;FLJ60040;HBXBP;HL-2;Hs.1259;L-H2 C-type lectin domain family 4 member H2;C-type lectin domain family 4, member H2;HBxAg-binding protein;OTTHUMP00000128352;OTTHUMP00000128353;asialoglycoprotein receptor H2;hepatic lectin H2 APPROVED protein-coding ENSG00000161944 HGNC:743 00152 108361 REVIEWED 6769643 ASH1L-AS1 ASH1L antisense RNA 1 1 1 1 q22 128604913 128606876 + 155531772 155533735 + 155561981 155563944 + 12477932 645676 ABBA01016697;ABBA01016698;AK126559;AL353807;AMYH02001949;BC009847;BC017347;BC065229;BC104640;BI916505;BX359981;NR_027023 BAC86594 Hs.568693;Hs.745405 APPROVED ncrna HGNC:44146 VALIDATED 737103 ASGR1 asialoglycoprotein receptor 1 This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 17 17 17 p13.2 7101987 7107556 - 7076750 7082883 - 7173431 7179564 - 1580863;6480464 10734069;10859341;10891274;11543633;11943787;12119473;12167617;12171918;12359251;12370180;12477859;12477932;15489334;15946216;16008586;16341674;16475991;1774077;18624398;18855599;1924301;1935897;19520807;19576873;19663694;19725223;20364278;20703846;20886072;21063834;21103663;21207081;21656538;21832049;21988832;22001757;22219600;22613667;23233672;23383108;23604802;23979840;24933948;2834401;2982798;3753585;7843709;7844558;8439566;9349295 432 I3L129;I3L1F8;I3L2S9;J3QSZ2;K7EPS5;P07306;Q6FGQ5 AB070933;ABBA01054851;ABBA01054852;AC120057;AK124286;AK308375;AK308677;AMYH02032890;BC032130;BM818592;BQ653541;BT019873;CH471108;CR542052;FJ410292;M10058;NM_001197216;NM_001671 AAA51785;AAH32130;AAV38676;ABM82956;ABM86147;ACQ90237;BAB83508;CAG46849;EAW90256;EAW90257;EAW90258;NP_001184145;NP_001662;P07306 Hs.12056;Hs.731669 1676043;2109067;2183824 ASGR1_8213;D17S2010;RH11640 ASGP-R 1;ASGPR;ASGPR 1;ASGPR1;CLEC4H1;HL-1;Hs.12056 C-type lectin domain family 4 member H1;C-type lectin domain family 4, member H1;OTTHUMP00000128354;hepatic asialoglycoprotein receptor 1;hepatic lectin H1 APPROVED protein-coding ENSG00000141505 HGNC:742 00151 108360 REVIEWED 1314918 ASH1L ash1 (absent, small, or homeotic)-like (Drosophila) This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008] 1 1 1 q22 128378194 128605465 - 155305052 155532324 - 155335261 155562825 - 1580863;6480464;6907045;7242632;8554872 23200123 10718198;10860993;15146197;15231748;16344560;16545939;16710414;17203973;17403666;17923682;18029348;19471022;21139048;21239497;21693764;22140534;22541069;22632162;22696682;24019522;24244179;24250222 55870 F8VWK7;H0YI82;Q9NR48 AB037841;AB209068;ABBA01016698;ABBA01016699;ABBA01016700;ABBA01016701;ABBA01016702;ABBA01016703;ABBA01016704;ABBA01016705;ABBA01016706;ABBA01016707;ABBA01016708;AF257305;AI912552;AK304873;AK307595;AL139410;AL353807;AMYH02001944;AMYH02001945;AMYH02001946;AMYH02001947;AMYH02001948;AMYH02001949;BQ883186;CH471121;CN365042;DA236222;NM_018489;XM_005245336;XM_005245337;XM_006711450;XM_006711451;XM_006711452 AAF68983;AAI72595;BAA92658;BAD92305;BAG65610;EAW53068;NP_060959;Q9NR48;XP_005245393;XP_005245394;XP_006711513;XP_006711514;XP_006711515 Hs.491060 1339295;1643984;1668327;1681020;1692258;1692352;1748885;1749649;1781416;1781418;1851266;2113676;2135570;2140355;2182121;5096755 AB063083;AL009474;AL033792;AL034034;ASH1L_2279;D1S2777;RH16337;RH45194;RH69490;RH93684;SHGC-110554;SHGC-111331;SHGC-111438;SHGC-111439;SHGC-35091;WI-15725 ASH1;ASH1L1;FLJ10504;KIAA1420;KMT2H ASH1-like protein;OTTHUMP00000015897;OTTHUMP00000015898;absent small and homeotic disks protein 1 homolog;histone-lysine N-methyltransferase ASH1L;lysine N-methyltransferase 2H;probable histone-lysine N-methyltransferase ASH1L APPROVED protein-coding ENSG00000116539 HGNC:19088 06416 607999 REVIEWED 1343075 ASH2LP1 ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1 22 22 22 q11.22 6582634 6584044 + 22774714 22776124 + 22420377 22421787 + 9074928 266703 ABBA01055084;AC245291;D87009;D87010;NG_000002 pseudo HGNC:19332 VALIDATED 737359 ASIC2 acid-sensing (proton-gated) ion channel 2 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012] 17 17 17 q12 28251041 29395277 - 31340105 32483825 - 33013087 34156806 - 1298644;1300338;1580863;1300241;6480464;8554872 625485;734884;8921408 10842183;11739374;11802773;12477932;15471860;15489334;15504740;16704974;17376794;17534430;17548344;17553932;19091960;19812697;20201926;20306292;20379614;20677014;21378988;21810271;21811305;21961650;22157923;22493691;23251661;24324551;24529757;24847067;8626462;8631835;9037075;9360943 40 Q16515 ABBA01000736;ABBA01000737;ABBA01011210;AC003687;AC004147;AC008133;AC011824;AC015751;AC024610;AC024614;AC025898;AC027233;AC078907;AC123769;AK127748;AK313043;AL834182;AMYH02033328;AMYH02033329;AMYH02033330;AMYH02033331;AMYH02033332;AMYH02033333;AMYH02033334;AMYH02033335;AMYH02033336;BC075042;BC075043;CH471147;KF456268;KF510422;NG_029763;NM_001094;NM_183377;U50352;U53212;U57352 AAB49182;AAC50432;AAC50498;AAH75042;AAH75043;ABZ92042;BAG35875;BAG54565;CAD38879;EAW80216;NP_001085;NP_899233;Q16515 Hs.368417 1337065;1342106;1649703;1677927;1680894;1680918;1682221;1689061;1707052;1710822;1711936;1717693;1718963;1726253;1726269;1726429;1752483;1761797;1762195;1763721;1779686;1780142;1783538;1783552;1783572;1783594;1787810;1847635;1850245;1856366;2108573;2114106;2116200;2116984;2126577;2129455;2143611;2179531;2181217;2183327;2187825;2187827;2187829;2187831;2187833;2187839;2187841;2187843;2187845;5093708 AB056819;D17S1316;D17S1540;D17S1656;D17S1694;D17S1850;D17S2139;D17S2194;FB6F10;G09780;G09898;G28628;G32877;G42370;G49579;G62513;G62594;G72117;G72118;G72119;G72120;G72121;G72122;G72123;G72124;G72125;RH122277;RH123189;RH28431;RH48684;RH66290;RH67569;RH76641;RH92493;RH93845;SHGC-106373;SHGC-145757;SHGC-146075;SHGC-147393;SHGC-153663;SHGC-153682;SHGC-154441;SHGC-154446;SHGC-155068;SHGC-156229;SHGC-173267;SHGC-81279;SHGC-84158;STS-AA019851;TLK2_8170 ACCN;ACCN1;ASIC2a;BNC1;BNaC1;MDEG;hBNaC1 OTTHUMP00000163794;acid-sensing ion channel 2;amiloride-sensitive brain sodium channel;amiloride-sensitive cation channel 1;amiloride-sensitive cation channel 1, neuronal;amiloride-sensitive cation channel neuronal 1;brain sodium channel 1;degenerin;mammalian degenerin homolog;neuronal amiloride-sensitive cation channel 1 APPROVED protein-coding ENSG00000108684 HGNC:99 03471 601784 REVIEWED 731360 ASIC1 acid-sensing (proton-gated) ion channel 1 This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 12 12 12 q12 49246955 49272856 + 50451420 50477405 + 50057637 50083622 + 1298544;1300339;1580863;1300242;6480464 704418;734886;9037075 10362604;10798398;11448963;11512022;11739374;11748227;11802773;11988176;12244121;12393854;12477932;12578970;14988500;15247234;15471860;15489334;15574747;15576453;15738111;15952105;17324378;17392378;17443677;17548344;17984098;18349698;18514062;18662336;19185346;19561078;19654327;19812697;20048170;20215117;20216553;20299463;20306292;20371317;20601429;21036899;21176140;21346156;21664108;22157923;23048040;23224900;23977127;23991103;24100685;24847067;8685718;8889548;9062189;9360943 41 A8K1U5;F8VSK4;H0YHD6;H7C1W9;P78348 ABBA01031553;ABBA01031554;AC025154;AK290010;AK293960;AK311047;AMYH02026453;AW451342;BC013891;BC028722;BC133707;BM981170;CH471111;DR003232;EU078959;HM991481;NM_001095;NM_001256830;NM_020039;NR_046389;U78180;U78181;XM_006719397 AAB48980;AAB48981;AAH13891;AAI33708;ABU48925;ADP44689;BAF82699;BAG57332;EAW58116;EAW58117;EAW58118;EAW58119;NP_001086;NP_001243759;NP_064423;P78348;XP_006719460 Hs.274361 1666176;2106945;2175612 ACCN2_7741;RH70705;WI-22480 ACCN2;ASIC;ASIC1A;BNaC2;hBNaC2 ACCN2 variant 3;Cation channel, amiloride-sensitive, neuronal, 2;OTTHUMP00000242165;OTTHUMP00000242166;OTTHUMP00000242773;OTTHUMP00000242774;acid-sensing ion channel 1;acid-sensing ion channel 1a protein;amiloride-sensitive cation channel 2, neuronal;brain sodium channel 2 APPROVED protein-coding ENSG00000110881 HGNC:100 04182 602866 REVIEWED 1313775 ASH2L ash2 (absent, small, or homeotic)-like (Drosophila) ENCODES a protein that exhibits histone methyltransferase activity (H3-K4 specific); transcription regulatory region DNA binding; INVOLVED IN cellular response to DNA damage stimulus; histone H3-K4 methylation; positive regulation of cell proliferation; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Schizophrenia (ortholog); FOUND IN histone methyltransferase complex; nucleus; Set1C/COMPASS complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; carbamazepine; copper(2+) sulfate 8 8 8 p11.2 36915527 36949763 + 37962483 37997598 + 38104965 38140080 + 1580863;6480464;9586022;9479053 22663077;23932495 10393421;11466562;12477932;12482968;12670868;14992727;15199122;15231748;15489334;15761153;15960974;16159877;16169070;16189514;16253997;16344560;16510874;16510875;16603732;16713563;16892064;17050672;17355966;17500065;17612494;17761849;17825402;17846119;17925232;17998332;18026121;18066051;18082152;18245475;18680430;18838538;19047629;19131338;19136632;19187761;19433449;19556245;19660582;19896696;20064463;20085832;20093773;20150277;20208542;20211142;20305087;20516061;20937768;21124902;21139048;21220120;21285357;21382349;21445285;21502505;21531708;21642971;21653943;21660059;21884981;21890473;21988832;22231628;22267201;22665483;22939629;22990118;23307926;23453805;24235145;24368734;24491801;24680668;24816145;24930734 9070 B4DPT1;E5RFH5;E5RHM1;F5H8F7;H0YAQ0;H0YBF6;Q9UBL3 AB020982;AB022785;ABBA01023551;AC084024;AF056717;AF056718;AK291750;AK291938;AK293699;AK298483;AK311336;AMYH02017824;AMYH02017825;AP006545;AW962440;BC015936;CA417078;CH471080;DA156139;DC326351;DC353644;DC396707;NM_001105214;NM_001261832;NM_001282272;NM_004674;XM_005273682;XM_005273683;XM_006716412;XM_006716413 AAC13563;AAC13564;AAH15936;BAA35127;BAA74520;BAF84439;BAF84627;BAG57134;BAG60693;EAW63336;EAW63337;EAW63338;EAW63339;EAW63340;NP_001098684;NP_001248761;NP_001269201;NP_004665;Q9UBL3;XP_005273739;XP_005273740;XP_006716475;XP_006716476 Hs.521530 1649254;1701332;1774274;2131659;2134286;2217038;5095046 ASH2L;ASH2L_3207;D6S1405;NIB1979;RH104296;RH35988;SHGC-58272 ASH2;ASH2L1;ASH2L2;Bre2 ASH2-like protein;OTTHUMP00000225574;OTTHUMP00000225578;OTTHUMP00000225579;set1/Ash2 histone methyltransferase complex subunit ASH2 protein-coding ENSG00000129691 HGNC:744 05309 604782 VALIDATED 1353665 ASIC3 acid-sensing (proton-gated) ion channel 3 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 7 7 7 q35 145302914 145307152 + 150745379 150749843 + 151048292 151052756 + 1580863;6480464 10842183;11587714;11842212;11872753;12060708;12477932;12578970;12690205;15317815;15471860;15574747;17012229;18854755;19812697;19885742;20416288;20693874;21092862;21586569;22157923;22702502;22778854;22809504;22829666;22842475;22854960;23801332;24206072;9571199;9744806;9886053 9311 H7C4W0;H7C5N6;Q9UHC3 A82593;A82597;A82786;AACC02000108;AB010575;AB209421;ABBA01035167;AC010973;AF057711;AF095897;AF195024;AF195025;AI580095;AK128129;AK313926;AMYH02017067;BC030282;CH471173;NM_004769;NM_020321;NM_020322;NR_046401 AAC62935;AAC64188;AAF19817;AAF19818;AAI56797;BAA25897;BAD92658;BAG36647;CAB69243;CAB69244;CAB69252;EAL24495;EAL24496;EAL24497;EAW54052;EAW54053;EAW54054;EAW54055;NP_004760;NP_064717;NP_064718;Q9UHC3 Hs.647113 5113208 RH92393 ACCN3;SLNAC1;TNaC1;hASIC3;hTNaC1 DRASIC;OTTHUMP00000213253;OTTHUMP00000213254;OTTHUMP00000213255;OTTHUMP00000213256;OTTHUMP00000213257;acid-sensing ion channel 3;amiloride-sensitive cation channel 3;amiloride-sensitive cation channel 3, testis;modulatory subunit of ASIC2a;neuronal amiloride-sensitive cation channel 3;proton-gated cation channel subunit;testis sodium channel 1 APPROVED protein-coding ENSG00000213199 HGNC:101 10626 611741 REVIEWED 69199 ASIP agouti signaling protein In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008] 20 20 20 q11.2-q12 29597653 29606630 + 32829188 32857150 + 34241382 34269344 + 1625724;1580863;2313999;2314006;1357925;6480464;6484113;8554872 10426381;14633851;15189116;7987393 11447115;11780052;11833005;12055320;12477932;12519127;15016309;15489334;15701517;15726415;15998953;16091846;16704456;17525122;17952075;18488027;18488028;18563784;18637131;19382693;19384953;19710684;19913121;20585627;20628086;20831872;21221757;21983787;22447455;22628150;22976474;23548203;7757071;7937887;9058374;9761782 434 P42127 ABBA01019206;AL035458;AMYH02036970;AY805393;BC104238;BC104239;CH471077;L37019;NG_011439;NM_001672;U12775;XM_005260412 AAA89208;AAB61247;AAI04239;AAI04240;EAW76282;NP_001663;P42127;XP_005260469 Hs.659995 1658163;2145834;2161839 BCD1491;SHGC-36988;Z94291 AGSW;AGTI;ASP;MGC126092;MGC126093;SHEP9 AGTIL;OTTHUMP00000030681;agouti;agouti (mouse)-signaling protein;agouti signaling protein, nonagouti homolog;agouti switch protein;agouti-signaling protein;nonagouti homolog 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;1643376;1643383;1643385;1643396;2289429;2289431;2316052 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;BW305_H;BW306_H;BW311_H;BW312_H;GLUCO208_H APPROVED protein-coding ENSG00000101440 HGNC:745 02562 600201;611742 REVIEWED 736018 ASIC5 acid-sensing (proton-gated) ion channel family member 5 This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008] 4 4 4 q32.1 154082485 154119021 - 156750881 156787425 - 155829729 155866273 - 1580863;6480464;8554872 10767424;23842738 51802 Q9NY37 ABBA01070177;AC093830;AC125334;AJ252011;AMYH02010344;CH471056;NM_017419 AAI40357;AAI46498;CAB85607;EAX04887;NP_059115;Q9NY37 Hs.381349 1772236;2126980;2138515 D4S1370;D4S829;G34226 ACCN5;INAC HINAC;OTTHUMP00000220876;acid-sensing ion channel 5;amiloride-sensitive cation channel 5;amiloride-sensitive cation channel 5, intestinal;amiloride-sensitive sodium channel;human intestine Na(+) channel APPROVED protein-coding ENSG00000256394 HGNC:17537 16470 REVIEWED 1352939 ASLP1 argininosuccinate lyase pseudogene 1 22 22 22 q11.23 7830243 7834634 - 23991155 23995546 - 23648968 23653359 - 436 ABBA01055117;AMYH02038131;AP000346;NG_002637 2148536;2157866 RH46913;WI-22687 ASLL APPROVED pseudo HGNC:747 INFERRED 1604616 ASIC4 acid-sensing (proton-gated) ion channel family member 4 This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012] 2 2 2 q35 214148884 214173457 + 220378892 220403494 + 219514170 219538772 + 6480464 10852210;11571555;12477932;15489334;15815621;17207965;18662336;9847074 55515 Q96FT7 ABBA01023840;AC009955;AC053503;AC139723;AJ271643;AJ408881;AK308804;AK309373;AMYH02005823;BC010439;BC031812;BC073912;CH471063;EL736952;NM_182847;XM_005246671 AAH10439;AAH31812;AAY15054;ABM83030;CAB93980;CAC51338;EAW70760;EAW70761;EAW70762;EAW70763;NP_878267;Q96FT7;XP_005246728 Hs.87469 1708950;1799166;1799334;1800130;1802098;1803098;1803860;1808420;1808928;1810900;1812700;1816888;1819886;1821900;1824854;1826130;1826388;1826842;1827776;1828036;1828358;1828846;1829926;1830974;1834522;1837280;1841592;1842306;1842694;1842836;1843076;1964564;1964566;1964568;1964570;1964572;1964574;1964576;1964578;1964580;1964582;1964584;1964586;1964588;1964590;1964592;1964594;1964596;1964598;1964600;1964602;1964604;1964606;1964608;1964610;1964612;1964614;1964616;1964618;1964620;1964622;1964624;1964626;1964628;1964630;1964632;1964634;1964636;1964638;1964640;1964642;1964644;1964646;1964648;1964650;1964652;1964654;1964656;1964658;1964660;1964662;1964664;1964666;1964668;1964670;1964672;1964674;1964676;1964678;1964680;1964682;1964684;1964686;1964688;1964690;1964692;1964694;1964696;1964698;1964700;1964702;1964704;1964706;1964708;1964710;1964712;1964714;1964716;1964718;1964720;1964722;1964724;1964726;1964728;1964730;1964732;1964734;1964736;1964738;1964740;1964742;1964744;1964746;1964748;1964750;1964752;1964754;1964756;1964758;1964760;1964762;1964764;1964766;1964768;1964770;1964772;1964774;1964776;1964778;1964780;1964782;1964784;1964786;1964788;1964790;1964792;1964794;1964796;2108687;2214004;2214006;2214008;2214010;2214012;2214014;2214016;2214018;2214020;2214022;2214024;2214026;2214028;2214030;2214032;2214034;2214036;2214038;2214040;2214042 ACCN4_8063;ECD00429;ECD00516;ECD00921;ECD01931;ECD02440;ECD02842;ECD05191;ECD05447;ECD06448;ECD07361;ECD09490;ECD11013;ECD12036;ECD13526;ECD14175;ECD14308;ECD14536;ECD15010;ECD15141;ECD15304;ECD15550;ECD16096;ECD16623;ECD18409;ECD19807;ECD21993;ECD22356;ECD22554;ECD22625;ECD22746;REN53156;REN53157;REN53158;REN53159;REN53160;REN53161;REN53162;REN53163;REN53164;REN53165;REN53166;REN53167;REN53168;REN53169;REN53170;REN53171;REN53172;REN53173;REN53174;REN53175;REN53176;REN53177;REN53178;REN53179;REN53180;REN53181;REN53182;REN53183;REN53184;REN53185;REN53186;REN53187;REN53188;REN53189;REN53190;REN53191;REN53192;REN53193;REN53194;REN53195;REN53196;REN53197;REN53198;REN53199;REN53200;REN53201;REN53202;REN53203;REN53204;REN53205;REN53206;REN53207;REN53208;REN53209;REN53210;REN53211;REN53212;REN53213;REN53214;REN53215;REN53216;REN53217;REN53218;REN53219;REN53220;REN53221;REN53222;REN53223;REN53224;REN53225;REN53226;REN53227;REN53228;REN53229;REN53230;REN53231;REN53232;REN53233;REN53234;REN53235;REN53236;REN53237;REN53238;REN53239;REN53240;REN53241;REN53242;REN53243;REN53244;REN53245;REN53246;REN53247;REN53248;REN53249;REN53250;REN53251;REN53252;REN53253;REN53254;REN53255;REN53256;REN53257;REN53258;REN53259;REN53260;REN53261;REN53262;REN53263;REN53264;REN53265;REN53266;REN53267;REN53268;REN53269;REN53270;REN53271;REN53272;SHGC-79532;stSG633053;stSG633054;stSG633055;stSG633056;stSG633057;stSG633058;stSG633059;stSG633062;stSG633063;stSG633064;stSG633065;stSG633066;stSG633067;stSG633068;stSG633069;stSG633070;stSG633071;stSG633072;stSG633073;stSG633074 ACCN4;BNAC4;MGC17248;MGC24860 OTTHUMP00000064871;OTTHUMP00000064872;acid-sensing ion channel 4;amiloride-sensitive cation channel 4;amiloride-sensitive cation channel 4, pituitary;amiloride-sensitive cation channel family member 4, pituitary;brain sodium channel 4 APPROVED protein-coding ENSG00000072182 HGNC:21263 16231 606715 REVIEWED 731559 ASL argininosuccinate lyase This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 7 7 7 q11.21 66555388 66572941 - 65540776 65558330 + 66075789 66093343 + 1599263;1302509;1599265;734610;1599267;1580863;1300048;2314010;2300098;70249;4142785;4110824;6480464;6907045;7240710;8554872;8699517 10353334;10652239;11779202;12408190;16121806;17198704;20567615;20805789;2263616;4062872 11747432;11747433;12384776;12477932;12512996;15489334;16189514;1705937;17326097;19056867;19703900;20301396;2045097;20739017;20937351;21290785;21667091;21906983;21988832;22531684;22863883;23824909;24136197;24166829;24927999;2644168;282632;3368457;3391281;3463959;6784763;9256435 435 F8W943;P04424 ABBA01049004;AC068533;AF376770;AI469765;AK300519;AK310912;AK316334;AMYH02015896;AY203938;BC008195;BC033146;BQ949510;BU634268;BX328836;CH236961;CH471140;J03058;M14218;M21007;M57638;NG_009288;NM_000048;NM_001024943;NM_001024944;NM_001024946;Y00753 AAA35566;AAA51786;AAA51787;AAA51788;AAH08195;AAH33146;AAL57276;AAP34461;BAG62231;BAH14705;CAA68722;EAX07944;EAX07945;EAX07946;NP_000039;NP_001020114;NP_001020115;NP_001020117;P04424 Hs.632015 1786256;2147529;2148536;2157866;5016478;5124479 ASL;GDB:434012;RH46913;RH79831;SHGC-144290;WI-22687 ASAL OTTHUMP00000159903;OTTHUMP00000210324;OTTHUMP00000210325;OTTHUMP00000210326;OTTHUMP00000210327;argininosuccinase;arginosuccinase APPROVED protein-coding ENSG00000126522 HGNC:746 01948 207900;608310 REVIEWED 1350953 ASMD anterior segment mesenchymal dysgenesis ASSOCIATED WITH Anterior segment mesenchymal dysgenesis (inferred); Aphakia, congenital primary (inferred) 7240710 437 HGNC:749 107250;610256 1315744 ASMTL acetylserotonin O-methyltransferase-like The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X X;Y X;Y p22.3; Yp11.3 1732 11858 + 1472032 1522687 - 1403139 1453794 - 1580863;6480464 12477932;14702039;15489334;16189514;16344560;17081983;18029348;19850743;21832049;21890473;21906983;21963094;21988832;22863883;24654937;24722188;8125298;8889548;9736779 8623 B3KM43;O95671 ABBA01055724;ABBA01055725;ABBA01055726;AK001090;AK090498;AK225770;AK297805;AK299231;AK301844;AL683870;AMYH02038682;AMYH02038683;AMYH02038684;BC002508;BC010089;BM021926;BM129217;BU688748;CH471074;DA005122;DA301876;DA904467;NG_016772;NM_001173473;NM_001173474;NM_004192;XM_005274434;XM_005274783;Y15521 AAH02508;AAH10089;ADZ15744;BAC03468;BAG50855;BAG60143;BAG61263;BAG63287;CAA75675;CAA75676;EAW98682;NP_001166944;NP_001166945;NP_004183;O95671;XP_005274491;XP_005274840 Hs.533514 1676550;2119248 RH66350;STS-F04211 ASMTLX;ASTML ASMTLY;N-acetylserotonin O-methyltransferase-like protein;OTTHUMP00000022824;OTTHUMP00000022825;acetylserotonin N-methyltransferase-like APPROVED protein-coding ENSG00000169093 HGNC:751 02156 300162;400011 REVIEWED 1317371 ASNA1 arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011] 19 19 19 q13.3 12738017 12748848 + 12848306 12859137 + 12737492 12748323 + 1580863;6480464 10696239;12477932;15489334;17289575;17382883;18667436;19056867;19615732;19724867;20375064;20435896;20516149;20676083;21078624;21139048;21296983;21444755;21878631;21900206;21906983;21963094;22505607;22863883;23041287;23166591;23246001;23460677;24885147;25036637;8125298;8884272;9712828;9736449 439 K7ERW9;O43681 ABBA01029774;ABBA01029775;ABBA01029776;ABBA01029777;AC018761;AF047469;AK223363;AK291855;AK293588;AMYH02035555;AMYH02035556;AY304483;BC002651;BG426136;CH471106;NM_004317;U60276 AAC03551;AAC50731;AAH02651;AAP45050;ADZ15365;BAD97083;BAF84544;BAG57056;EAW84303;NP_004308;O43681 Hs.465985 1773667;1788482;1788484;2107861;2128167 ASNA1_8216;G67558;G67559;RH70684;STS-H08525 ARSA-I;ARSA1;ASNA-I;GET3;MGC3821;TRC40;hARSA-I;hASNA-I ASNA1 {ECO:0000255|HAMAP-Rule:MF_03112};ATPase ASNA1;ATPase ASNA1 {ECO:0000255|HAMAP-Rule:MF_03112};arsenical pump-driving ATPase;arsenical pump-driving ATPase {ECO:0000255|HAMAP-Rule:MF_03112};arsenite-stimulated ATPase;arsenite-stimulated ATPase {ECO:0000255|HAMAP-Rule:MF_03112};golgi to ER traffic 3 homolog;transmembrane domain recognition complex 40 kDa ATPase subunit;transmembrane domain recognition complex, 40kDa APPROVED protein-coding ENSG00000198356 HGNC:752 03555 601913 VALIDATED 1353638 ASMT acetylserotonin O-methyltransferase This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010] X X;Y X;Y p22.3 or Yp11.3 5992483 6035986 + 1714348 1761974 + 1595455 1643081 + 1580863;6480464;6907045 11339514;12477932;12734775;15489334;15772651;17505466;17957233;1878930;20377855;20418777;20433639;20442744;21251267;21437622;21615493;21778461;22694957;22775292;23349736;23995775;24722188;7989373;8098975;8397829 438 I7HFW6;P46597;X5D784 ABBA01055709;ABBA01055710;ABBA01055711;ABBA01055712;ABBA01055713;AK314922;AL683807;AMYH02038692;AMYH02038693;BC001620;CH471074;KJ534774;KJ534775;KJ534776;KJ535045;M83779;NG_016337;NM_001171038;NM_001171039;NM_004043;U11090;U11091;U11098 AAA17020;AAA58582;AAA58583;AAA75289;AAA75290;AAA75291;AAH01620;AHW56414;AHW56415;AHW56416;AHW56684;BAG37430;EAW98685;EAW98686;NP_001164509;NP_001164510;NP_004034;P46597 Hs.522572 1683403;1748463;1848069;1852802;2177147;5017879 CXYorf3;DXYS155E;RH69211;RH71197;SHGC-5417;SHGC-64829 ASMTY;HIOMT;HIOMTY;OTTHUMP00000022834;OTTHUMP00000022835;OTTHUMP00000022836;acetylserotonin N-methyltransferase;acetylserotonin methyltransferase (Y chromosome);hydroxyindole O-methyltransferase APPROVED protein-coding ENSG00000196433 HGNC:750 02058 300015;402500 REVIEWED 1345758 ASMTL-AS1 ASMTL antisense RNA 1 This gene serves as the antisense to the acetylserotonin O-methyltransferase-like gene. Multiple non-coding transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] X;Y X;Y p22.33; Yp11.32 1469424 1484314 + 1400531 1415421 + 12477932;14702039 80161 ABBA01055726;AF193043;AK023392;AL683870;AMYH02038682;AMYH02038683;BC093994;CH471074;NG_030331;NR_026710;NR_026711 AAG22471;BAB14557;EAW98681 Hs.521856 1676550;2119248 RH66350;STS-F04211 ASMTL-AS;CXYorf2;FLJ13330;NCRNA00105 ASMTLAS APPROVED ncrna HGNC:25811 06522 VALIDATED 1343754 ASNS asparagine synthetase (glutamine-hydrolyzing) The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] 7 7 7 q21.3 92176132 92196562 - 97481429 97501854 - 97852117 97872542 - 1580863;2316006;6480464;6907045;8699517;7240710;8554872 10081 10085239;11867623;11960987;12097650;12351626;12477932;12690205;12853948;12949534;15385533;15489334;15674423;16023613;16169070;16196087;16344560;16598302;17088436;17276738;17380207;17409444;18840095;18852115;18940792;19035175;19054556;19414379;19738201;20561401;20562859;20639865;21139048;21145461;21319273;21505976;21890473;21906983;21963094;22586326;22623428;22863883;22939629;22978410;23000965;23275563;23403946;23764751;23956056;24139043;24268318;24398846;24729124;2564390;2565875;2569668;2573597;2714790;2886907;3470743;6137879;7904551;8093451;9847074 440 C9J057;C9J605;C9JLA3;C9JLN6;C9JM09;C9JT45;F8WEJ5;P08243 AA948141;ABBA01045743;ABBA01045744;AC005326;AC079781;AK000379;AK302189;AK302242;AK316224;AMYH02016318;BC008723;BC014621;BG718826;BT007113;BX104871;CH236949;CH471091;DA160359;DA661624;DA961373;DB483248;DC297828;L35946;M15798;M27054;M27396;NG_033870;NM_001178075;NM_001178076;NM_001178077;NM_001673;NM_133436;NM_183356 AAA36781;AAA51789;AAA52756;AAA63266;AAH08723;AAH14621;AAP35777;AAQ96856;ABM83944;ABM87262;BAG63553;BAG63594;BAH14595;EAL24115;EAW76723;EAW76730;EAW76731;EAW76732;EAW76733;NP_001171546;NP_001171547;NP_001171548;NP_001664;NP_597680;NP_899199;P08243 Hs.489207 1687708;2109069;2126743;5115132 ASNS;ASNS_8217;RH79681;WI-20023 ASNSD;TS11 OTTHUMP00000024510;OTTHUMP00000204938;OTTHUMP00000204939;OTTHUMP00000204940;OTTHUMP00000204941;OTTHUMP00000204942;TS11 cell cycle control protein;asparagine synthetase;asparagine synthetase [glutamine-hydrolyzing];glutamine-dependent asparagine synthetase APPROVED protein-coding ENSG00000070669 HGNC:753 00153 108370;615574 REVIEWED 1603641 ASNSD1 asparagine synthetase domain containing 1 ENCODES a protein that exhibits asparagine synthase (glutamine-hydrolyzing) activity (inferred); INVOLVED IN asparagine biosynthetic process (inferred); glutamine metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; calcitriol 2 2 2 p24.3-q21.3 184121046 184130465 + 190526125 190535557 + 189661399 189670831 + 6480464;8554872 12477932;16344560;16534843;21906983;22797925;24250222 54529 C9IYZ1;C9J6C1;L0R819;Q9NWL6;U3KQ49;U3KQE3;U3KQK8;U3KQP1;U3KQP6 AB075481;ABBA01062379;AC012488;AK000759;AMYH02005428;AY116969;BC001243;CH471058;DA771653;NM_019048;XM_005246653 AAH01243;AAM77212;AAX88843;BAA91364;BAE45745;EAX10898;EAX10899;EAX10900;NP_061921;Q9NWL6;XP_005246710 Hs.101364 1718133;1734876;1734896;1775792;1854261;1858179;2109577;2171663 A002V47;D2S1634E;D2S1669E;NS3TP1_9795;RH122834;RH17929;RH18336;RH48880 FLJ20752;NBLA00058;NS3TP1 HCV NS3-transactivated protein 1;OTTHUMP00000163500;OTTHUMP00000205600;asparagine synthetase domain-containing protein 1 protein-coding ENSG00000138381 HGNC:24910 17645 VALIDATED 1352956 ASNSP2 asparagine synthetase pseudogene 2 21 21 p11.2 9742188 9742343 + 8853355 8853510 + 10830953 442 AMYH02037502;CR381670;NG_029775 ASNSL2 APPROVED pseudo HGNC:755 INFERRED 4889736 ASNSP3 asparagine synthetase pseudogene 3 13 13 13 q32 81559083 81560403 - 100714551 100715871 - 100062297 100063617 - 100423061 ABBA01027094;AL355338;AMYH02028604;NG_021205 pseudo HGNC:39399 INFERRED 8549003 ASNSP6 asparagine synthetase (glutamine-hydrolyzing) pseudogene 6 18 18 18 p11.2 11625009 11626861 + 11745668 11747520 + 11745669 11747521 + 100423060 ABBA01073999;AMYH02034316;AP001120;NG_021204;NG_033866 pseudo HGNC:49876 INFERRED 1350952 ASPA aspartoacylase This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3391129 3416414 + 3377404 3402700 + 3474110 3499406 + 1599291;1599298;1601247;1580863;6480464;6907045;7240710;8554872;8699517 15857674;16707098;8252036 10564886;10837925;10909858;12205125;12477932;12638939;12706335;14699612;15489334;16189514;16437572;16669630;16935940;17027983;17194761;17391648;18029348;18264947;18293939;20201926;20301412;22019069;22219087;22468686;22750302;22878930;23049088;24501781;24632142;25003821;27051;3116332;7599639;7668285;8023850;8088831;8659549;9407392 443 I3L0T3;I3L4M0;P45381;Q6FH48 ABBA01054737;ABBA01054738;AC025125;AK312901;AMYH02032800;BC010941;BC029128;CH471108;CR541908;NG_008399;NM_000049;NM_001128085;S67156;S74727;XM_005256649;XM_006721527 AAB29190;AAD14981;AAH29128;ABM83005;ABM86198;BAG35747;CAG46706;EAW90506;EAW90507;NP_000040;NP_001121557;P45381;XP_005256706;XP_006721590 Hs.171142 1652794;1663106;1718779;1743907;2127401 D17S2054;GDB:375371;RH123093;RH17906;STS-H83906 ACY-2;ACY2;ASP Canavan disease;OTTHUMP00000115814;aminoacylase 2;aminoacylase-2;aspartoacylase (Canavan disease);aspartoacylase (aminoacylase 2, canavan disease) APPROVED protein-coding HGNC:756 02033 271900;608034 REVIEWED 1346746 ASNSP1 asparagine synthetase pseudogene 1 8 8 8 q11.1 43489381 43510469 - 47490828 47529361 - 46579206 46617739 - 389652 ABBA01018436;AC093368;AC104576;AMYH02017930;NG_007178 2066270;2170641 D8S1585;REN104321 ASNSL1 APPROVED pseudo HGNC:754 INFERRED 6481559 ASNSP5 asparagine synthetase pseudogene 5 1 1 142799587 142799739 + 18565 18717 + 100873794 AMYH02001841;BX572084;NG_032287 pseudo HGNC:39401 INFERRED 4889697 ASNSP4 asparagine synthetase pseudogene 4 8 8 8 43593546 43594601 + 47609252 47610307 + 46697630 46698685 + 100419423 ABBA01018437;AC104576;AMYH02017930;NG_026098 pseudo HGNC:39400 INFERRED 1605752 ASPDH aspartate dehydrogenase domain containing ENCODES a protein that exhibits aspartate dehydrogenase activity (inferred); NADP binding (inferred); oxidoreductase activity (inferred); INVOLVED IN NAD biosynthetic process (inferred); NADP catabolic process (inferred); oxidation-reduction process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 19 19 19 q13.33 48066159 48069272 - 51014857 51018689 - 50511600 50515432 - 6480464;8554872 12477932;17207965;8889548 554235 A6ND91;M0QYD4;M0QZ80 ABBA01068319;AC008743;AMYH02036356;BC066359;BM695973;BM924033;BU729215;CH471135;NM_001024656;NM_001114598;XM_005259045;XM_005259046;XM_006723260;XM_006723261;XM_006723262;XM_006723263;XM_006723264 A6ND91;AAH66359;ADQ32053;EAW71878;EAW71879;EAW71880;EAW71881;EAW71882;EAW71883;NP_001019827;NP_001108070;XP_005259102;XP_005259103;XP_006723323;XP_006723324;XP_006723325;XP_006723326;XP_006723327 Hs.436338 aspartate dehydrogenase domain-containing protein;putative L-aspartate dehydrogenase protein-coding ENSG00000204653 HGNC:33856 18692 VALIDATED 1605839 ASPHD1 aspartate beta-hydroxylase domain containing 1 ENCODES a protein that exhibits dioxygenase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); peptidyl-amino acid modification (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 16 16 16 p11.2 72879828 72885036 - 29912147 29931181 + 29900826 29919864 + 6480464 12477932;15489334;8619474;9110174 253982 I3L2A5;I3L2Y2;Q5U4P2 ABBA01013111;ABBA01013112;ABBA01013113;ABBA01013114;ABBA01013115;ABBA01013116;AC120114;AC244166;AF070642;BC009033;BC029136;BC034275;BC040933;BC085011;BC126319;BC126321;BC144152;BU193236;CH471238;KF459558;NM_181718;XR_243272;XR_429675 AAH09033;AAH29136;AAH34275;AAH40933;AAH85011;AAI26320;AAI26322;AAI44153;ADR83156;EAW79971;EAW79972;NP_859069;Q5U4P2 Hs.655761 1676912;1679027;1682726;1730407;1772619;2151310;2181778 D16S3185;D16S425E;RH11802;RH64895;RH78940;SHGC-60606;UniSTS:67512 OTTHUMP00000163001;aspartate beta-hydroxylase domain-containing protein 1 protein-coding ENSG00000174939 HGNC:27380 14139 VALIDATED 1344860 ASPG asparaginase ENCODES a protein that exhibits 1-alkyl-2-acetylglycerophosphocholine esterase activity (inferred); asparaginase activity (inferred); lysophospholipase activity (inferred); INVOLVED IN asparagine metabolic process (inferred); cellular amino acid metabolic process (inferred); lipid catabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q32.33 84606252 84633128 + 104552019 104579100 + 104085682 104112761 + 6480464;8554872 12477932;21063096;22861376;24657844;24768817 374569 G3V1Y8;H0YHD3;H0YHG5;Q86U10 ABBA01048391;AL136001;AMYH02029941;AW024833;AX781433;AX781435;BC035836;BC136637;BM544197;BX247999;BX280385;BX407951;CH471061;NM_001080464;XM_005267590;XM_006720127;XM_006720128;XM_006720129;XM_006720130;XM_006720131;XM_006720132;XM_006720133;XM_006720134;XM_006720135;XM_006720136;XM_006720137;XR_429314 AAH35836;AAI36638;CAD62331;CAE11776;CAE11778;EAW81857;EAW81859;NP_001073933;Q86U10;XP_005267647;XP_006720190;XP_006720191;XP_006720192;XP_006720193;XP_006720194;XP_006720195;XP_006720196;XP_006720197;XP_006720198;XP_006720199;XP_006720200 Hs.146239 C14orf76;GPA/WT 60 kDa lysophospholipase;60-kDa-lysophospholipase;OTTHUMP00000242688;OTTHUMP00000242691;asparaginase homolog;wild-type L-asparaginase APPROVED protein-coding ENSG00000166183 HGNC:20123 VALIDATED 1316111 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] 1 1 1 q31 170178726 170241291 - 197053257 197115824 - 197084127 197146694 - 1599300;1580863;6480464;7240710;8554872;8699517 16141009 11078481;11283617;12355089;12477932;12571366;14574646;14702039;14704186;15045028;15355437;15489334;15972725;16123590;16151010;16565220;16687438;17081983;17090670;17220170;17251122;17534152;17566767;17604569;17849285;18204051;18331833;18452193;18541031;18636190;18676753;18728014;19028728;19054571;19332161;19353628;19770472;19808985;20080800;20301772;20308539;20360068;20508983;20694558;21044324;21139048;21145461;21297427;21633703;21693764;21890473;21906983;21923303;21963094;21987572;22505724;22529908;22823409;22989186;22990118;23000965;23381943;23887221;23896173;24778252 259266 B3KWI2;Q5VYL4;Q8IZT6 ABBA01027596;AF509326;AK001379;AK001380;AK001411;AK095892;AK125107;AK226178;AL353809;AL627208;AMYH02002428;AY099890;AY099891;AY099892;AY099893;AY101201;AY367065;AY971955;AY971956;AY971957;BC015396;BC034607;BC040439;BF970006;BX648804;CH471067;NG_015867;NM_001206846;NM_018136 AAH15396;AAH34607;AAM44119;AAM44120;AAM44121;AAM44122;AAM48745;AAN40011;AAR12641;AAY46813;AAY46814;AAY46815;BAA91676;BAG50897;BAG54144;EAW91270;EAW91271;EAW91272;EAW91273;EAW91274;NP_001193775;NP_060606;Q8IZT6 Hs.121028 ASP;Calmbp1;DKFZp686N06184;FLJ10517;FLJ10549;FLJ43117;MCPH5 OTTHUMP00000034411;OTTHUMP00000034412;abnormal spindle-like microcephaly-associated protein;asp (abnormal spindle)-like, microcephaly associated (drosophila) APPROVED protein-coding ENSG00000066279 HGNC:19048 08384 605481;608716 REVIEWED 1323751 ASPH aspartate beta-hydroxylase This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009] 8 8 8 q12.1 58402958 58617392 - 62413115 62627199 - 61500556 61714640 - 1580863;2325824;6480464;6902945;8699517;7240710;8554872 16673309;21898484 10767180;10956665;10974562;11007777;11069905;11991713;12118090;12130746;12477932;12713872;14702039;15041652;15302852;15302935;16154531;16341145;16341674;16344560;16564107;16712791;16949909;17020779;17156427;17207965;17400717;17500595;17569730;18288418;18387192;18781797;19087304;19197126;19200576;19403607;19567751;19663697;20020773;20562859;21139048;21145461;21565611;21832049;21862239;21890473;21906983;21963094;22123818;22586105;23438482;24768550;7821814;8823296;8889548;9287354 444 B4DQ07;B7ZM96;E5RG29;E5RG56;E5RHJ2;E5RHK2;E5RJL3;G3XAN5;Q12797 ABBA01041825;ABBA01041826;ABBA01041827;AC067881;AC090094;AF184241;AF224468;AF224469;AF289489;AF306765;AF339775;AK096383;AK291836;AK295528;AK298577;AK304314;AMYH02018062;AMYH02018063;BC015518;BC025236;BC066929;BC142967;BC144362;BC144363;BI793083;BM785890;BU623111;BU741737;BX102882;CA420254;CB115846;CB122028;CH471068;CR996516;DA136318;DN993915;EU718494;FJ461473;JC258729;JC303368;N83868;NG_013210;NM_001164750;NM_001164751;NM_001164752;NM_001164753;NM_001164754;NM_001164755;NM_001164756;NM_004318;NM_020164;NM_032466;NM_032467;NM_032468;S83325;U03109;XM_005251235;XM_005251236;XM_005251238;XM_005251239;XM_005251240;XM_005251241;XM_005251242;XM_005251243;XM_005251244;XM_005251246;XM_005251247;XM_005251248;XM_005251249;XM_005251250;XM_006716448;XM_006716449 AAA82108;AAB50779;AAF82246;AAF82247;AAG16983;AAG40811;AAG42257;AAH15518;AAH25236;AAH66929;AAI42968;AAI44363;AAI44364;AAI66658;ACD93450;ACK37363;ADQ32246;BAF84525;BAG58441;BAG60769;BAG65166;CDM55392;CDM55573;EAW86840;EAW86841;EAW86842;EAW86843;EAW86844;EAW86845;EAW86846;EAW86847;EAW86848;EAW86849;NP_001158222;NP_001158223;NP_001158224;NP_001158225;NP_001158226;NP_001158227;NP_001158228;NP_004309;NP_064549;NP_115855;NP_115856;NP_115857;Q12797;XP_005251292;XP_005251293;XP_005251295;XP_005251296;XP_005251297;XP_005251298;XP_005251299;XP_005251300;XP_005251301;XP_005251303;XP_005251304;XP_005251305;XP_005251306;XP_005251307;XP_006716511;XP_006716512 Hs.332422 1664224;1680371;1687303;1735744;1735768;1740025;1773822;1786540;1786594;1849926;1851045;1854793;2122198;2122200;2126038;2145480;2167965;2185470;2186937 A006X24;D8S1359E;D8S1374E;D8S1514;D8S1596;D8S1685;NIB322;RH12812;RH48484;RH66163;RH66780;RH91152;RH91181;SHGC-108120;SHGC-142338;SHGC-24147;SHGC-32770;WI-11767;WI-15471 AAH;BAH;CASQ2BP1;FDLAB;HAAH;JCTN A beta H-J-J;ASP beta-hydroxylase;OTTHUMP00000226573;OTTHUMP00000226574;OTTHUMP00000226610;OTTHUMP00000226611;OTTHUMP00000226612;OTTHUMP00000226613;OTTHUMP00000226615;OTTHUMP00000226619;OTTHUMP00000227490;OTTHUMP00000230645;OTTHUMP00000230646;OTTHUMP00000230647;aspartyl/asparaginyl beta-hydroxylase;aspartyl/asparaginyl-beta-hydroxylase;cardiac junctin;humbug;junctate;junctin;peptide-aspartate beta-dioxygenase APPROVED protein-coding ENSG00000198363 HGNC:757 08996 600582;601552 REVIEWED 1601744 ASPHD2 aspartate beta-hydroxylase domain containing 2 ENCODES a protein that exhibits dioxygenase activity (inferred); metal ion binding (inferred); INVOLVED IN oxidation-reduction process (inferred); peptidyl-amino acid modification (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 22 22 22 q12.1 10629181 10644874 + 26825280 26840978 + 26429314 26445012 + 6480464 10591208;12477932;14702039;15461802;15489334;19946888;20379614 57168 Q6ICH7 ABBA01055200;AK097157;AK315112;AL161993;AMYH02038166;BC036753;CH471095;CR456391;NM_020437;Z99714 AAH36753;BAG37570;BAG53427;CAB82325;CAG30277;CAI17879;CAK54397;CAK54696;EAW59715;EAW59716;NP_065170;Q6ICH7 Hs.567547 2148372 A007D44 FLJ39838 OTTHUMP00000198651;aspartate beta-hydroxylase domain-containing protein 2 protein-coding ENSG00000128203 HGNC:30437 14255 VALIDATED 1604987 ASPRV1 aspartic peptidase, retroviral-like 1 ENCODES a protein that exhibits aspartic-type endopeptidase activity; INVOLVED IN protein processing; skin development (ortholog); INTERACTS WITH copper(2+) sulfate; quercetin; 3,4-methylenedioxymethamphetamine (ortholog) 2 2 2 p13.3 70038387 70040559 - 70187221 70189397 - 69960089 69962265 - 6480464 12477932;14702039;15489334;15815621;16098038;16565508;21145461;21542132;21800051;22318384;23251661 151516 Q53RT3 ABBA01075517;AC079811;AK055994;AK057813;AMYH02004031;BC031997;BC094000;BC094002;CH471053;CS057934;NM_152792 AAH31997;AAH94000;AAH94002;AAY24017;BAB71067;BAB71587;CAI77615;EAW99836;NP_690005;Q53RT3 Hs.516253 1691036;5493315 RH99200;UniSTS:485684 MUNO;SASP;Taps OTTHUMP00000205193;SASPase;TPA-inducible aspartic proteinase-like protein;retroviral-like aspartic protease 1;skin aspartic protease;skin-specific retroviral-like aspartic protease protein-coding ENSG00000244617 HGNC:26321 08683 611765 VALIDATED 1345823 ASPN asporin This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014] 9 9 9 q22 65660507 65686862 - 95218487 95244844 - 92456205 92482562 - 1580863;6480464;7240710 11152692;11152695;11587855;12477932;12975309;14702039;15342556;15640800;16255042;16542493;16632759;16707531;17024313;17195216;17517696;17603749;17804408;17827158;18178444;18304494;18336287;18434216;18452398;19327154;19589127;19997821;20144272;20939878;21329514;21413025;21528154;21542882;21755970;21774982;21898406;22247499;22367347;22384228;22514560;23185509;23220557;23324291;23357225;23537453;23706210;23733110;23819832;23838702;23942062;24003854;24078942;24306268;24324885;24441039;24453179;24708694;24716474;24905804;25030405;25031006 54829 B4E2Z7;Q05CQ6;Q5TBF2;Q9BXN1 ABBA01018585;AF316824;AI741321;AK000136;AK027359;AK172737;AK304501;AK308107;AL137848;AMYH02021221;AY029191;AY358329;BC022059;BC063114;BP292032;CD110559;CH471089;NG_023430;NM_001193335;NM_017680 AAH22059;AAH63114;AAK31800;AAK35161;AAQ88695;BAA90967;BAB55060;BAG65309;EAW62822;EAW62823;NP_001180264;NP_060150;Q9BXN1 Hs.435655 1670882;1723923;1752083;1849331;2109071;2140046;2180310;2187282 ASPN_9828;D9S2071;D9S2074;RH119473;RH36006;SHGC-106025;SHGC-35056;STS-H75800 FLJ20129;OS3;PLAP-1;PLAP1;SLRR1C OTTHUMP00000021657;OTTHUMP00000021658;asporin (LRR class 1);asporin proteoglycan;periodontal ligament associated protein 1;periodontal ligament-associated protein 1;small leucine-rich protein 1C APPROVED protein-coding ENSG00000106819 HGNC:14872 16288 603932;607850;608135 REVIEWED 1344232 ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011] 17 17 17 q25.3 76539749 76571790 + 79935426 79975282 + 81977550 82017406 + 6480464;7240710;8699517 10506710;11244503;11358836;11438465;12477932;14562105;14702039;15489334;16196087;17081983;18176180;18775313;19953087;20416077;21139048;21279521;21832049;21835426;21900206;21906983;21963094;22207755;22337587;22350894;22379092;22863883;23288701;23349634;23383273;23443559;24457600;24816145 79058 C9JAL9;J3KRF7;J3KRG1;J3KRY8;J3QL04;J3QR12;J3QR50;J3QRW3;Q9BZE9 ABBA01019659;ABBA01019660;AC137723;AC145207;AF324219;AK057403;AK057851;AK090682;AK126967;AK127159;AK127311;AK226086;AK290624;AMYH02034146;BC006152;BC018722;CH471099;KF456337;NG_030375;NM_001251888;NM_024083;NR_045351 AAH06152;AAH18722;AAK08959;ABM83448;ABM86660;BAB71472;BAB71595;BAF83313;EAW89731;NP_001238817;NP_076988;Q9BZE9 Hs.298351 1678351;2153545 D17S704;RH79793 ASPCR1;ASPL;ASPS;FLJ45380;RCC17;TUG;UBXD9;UBXN9 UBX domain protein 9;UBX domain-containing protein 9;alveolar soft part sarcoma chromosomal region candidate gene 1 protein;alveolar soft part sarcoma locus;renal cell carcinoma gene on chromosome 17;renal cell carcinoma, papillary, 17;renal papillary cell carcinoma protein 17;tether containing UBX domain for GLUT4 APPROVED protein-coding ENSG00000169696 HGNC:13825 06947 606236;606243 REVIEWED 736136 ASS1 argininosuccinate synthase 1 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] 9 9 9 q34.1 103858652 103915182 + 133320094 133376661 + 130444707 130501274 + 1599301;1599263;1599267;1599305;1599310;1599265;1300048;2300098;4140479;4110824;70249;4140452;631755;4139898;4140449;4142785;6480464;6907045;7240710;8554872;8699517 10353334;10652239;11384198;11556547;11779202;12359751;12470967;15698416;17198704;19914391;20544730;20567615;20805789;4062872;7557970 11464474;11606680;11708871;11941481;12477932;12620389;12815590;1312326;1372742;14570901;14702039;15192091;15489334;16124451;16169070;16189514;16380201;16703398;17096330;17314511;17354225;18263583;18781797;18840401;19000307;19006241;19056867;19358837;19409979;1943692;19471022;19533750;19913121;19934275;20159990;20301396;20301631;20360068;20628086;20706999;20739017;21044950;21106532;21139048;21481813;21832049;21906983;21963094;21987572;21988832;22268729;22430140;22863883;22939629;23022198;23099195;23339388;23549872;2358466;23897555;24192130;24255178;24297925;24337577;24816145;24927999;2788888;3027451;3513483;6095035;6194510;6321498;7977368;852520;8792870;8895530;891260;9150948 445 B4E395;P00966;Q5T6L4;Q5T6L5;Q5T6L6;Q5T6L7 ABBA01012048;AF363662;AK027126;AK293114;AK304625;AK315093;AL354898;AMYH02021763;AW672752;AY034076;BC009243;BC013224;BC021676;BE207182;BE794559;BF305325;BI603075;BX403885;CH471090;DB496935;L00081;L00084;M34903;NG_011542;NM_000050;NM_054012;X01630;XM_005272199;XM_005272200;Z36810 AAA51782;AAA51783;AAH09243;AAH21676;AAK67487;AAM60751;ACE86914;ACE87601;BAF85803;BAG37558;BAG65407;CAA25771;EAW87932;EAW87933;EAW87934;EAW87935;EAW87936;NP_000041;NP_446464;P00966;XP_005272256;XP_005272257 Hs.160786 1342290;1672046;1694706;1745645;1759747;1783216;2107863;2148869;2160520;5014493;5124104 ASS_8219;D12S1933;D9S1861;D9S1956;D9S2057;G43543;GDB:629967;L00083;RH91535;SHGC-151267;SHGC-152551 ASS;CTLN1 OTTHUMP00000022362;OTTHUMP00000022363;OTTHUMP00000022364;argininosuccinate synthase;argininosuccinate synthetase 1;arginosuccinate synthetase;citrulline--aspartate ligase;citrulline-aspartate ligase APPROVED protein-coding ENSG00000130707 HGNC:758 04590 215700;603470 REVIEWED 1343525 ASRGL1 asparaginase like 1 ENCODES a protein that exhibits asparaginase activity; beta-aspartyl-peptidase activity; INVOLVED IN asparagine catabolic process via L-aspartate; FOUND IN nucleus; cytoplasm (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; calcitriol 11 11 11 q12.3 59434150 59490290 + 62104774 62160887 + 62337302 62393415 + 6480464 11984834;12477932;14702039;15342556;16344560;17213182;18029348;19414332;19839645;21139048;21900206;22891768;23144326;23383108;24816145;8125298 80150 B4DLU4;E9PJK6;Q7L266 ABBA01003222;AF411076;AK090908;AK091894;AK225802;AK297158;AK309845;AK313069;AMYH02024887;AMYH02024888;AP003064;AP003306;BC006267;BC021295;BC064963;BC093070;BP308677;CH471076;DA159051;DT220454;NM_001083926;NM_025080;XM_005274304;XM_005274305;XM_005274306 AAH06267;AAH21295;AAH64963;AAH93070;AAM28434;ACE86596;ACE87277;BAG35897;BAG52245;BAG52437;BAG59656;EAW74012;EAW74013;EAW74014;EAW74015;EAW74016;EAW74017;NP_001077395;NP_079356;Q7L266;XP_005274361;XP_005274362;XP_005274363 Hs.535326 2173765 STS-T23913 ALP;ALP1;CRASH;FLJ22316 L-asparaginase;L-asparagine amidohydrolase;OTTHUMP00000236068;OTTHUMP00000236070;asparaginase-like 1 protein;asparaginase-like protein 1;beta-aspartyl-peptidase;isoaspartyl dipeptidase;isoaspartyl peptidase/L-asparaginase protein-coding ENSG00000162174 HGNC:16448 07006 609212 VALIDATED 1350105 ASS1P1 argininosuccinate synthetase 1 pseudogene 1 6 6 6 p22.3 26250525 26252101 - 25023237 25024819 - 25023009 25024591 - 1440058;6093508;6321498 442167 ABBA01066541;AL160400;AMYH02013334;K01845;NG_001077 ASSP1 APPROVED pseudo HGNC:759 INFERRED 1345984 ASS1P11 argininosuccinate synthetase 1 pseudogene 11 7 7 7 p15.3 21245089 21246644 - 21259597 21261152 - 21219978 21221533 - 23251661;456;6093508 340274 ABBA01056681;AC078791;AMYH02015342;CH236948;NG_008639 ASSP11 APPROVED pseudo HGNC:761 INFERRED 1344256 ASS1P12 argininosuccinate synthetase 1 pseudogene 12 9 9 9 p21.1 32877206 32878772 + 32945892 32947458 + 32945894 32947460 + 6093508 392302 ABBA01065075;AL353717;AMYH02019413;NG_005207 ASSP12 APPROVED pseudo HGNC:762 INFERRED 1348690 ASS1P10 argininosuccinate synthetase 1 pseudogene 10 5 5 5 q32 140689275 140690849 + 144608274 144609848 + 145228711 145230285 + 2435915;6093508 455 ABBA01026349;AC132803;AMYH02012397;NG_003021 ASSP10 APPROVED pseudo HGNC:760 INFERRED 1353562 ASS1P13 argininosuccinate synthetase 1 pseudogene 13 11 11 11 q22.3 104212835 104214390 + 107046938 107048493 + 107176212 107177767 + 6093508 341230 ABBA01039887;AMYH02025525;AP003057;NG_011669 ASSP13 APPROVED pseudo HGNC:763 INFERRED 1354180 ASS1P2 argininosuccinate synthetase 1 pseudogene 2 2 2 2 p22.1 38878378 38879919 - 39037357 39038898 - 38810215 38811756 - 6093508;9847074 447 ABBA01075019;AC018693;AC092833;AMYH02003633;NG_000845 ASSP2 APPROVED pseudo HGNC:765 INFERRED 1345150 ASS1P4 argininosuccinate synthetase 1 pseudogene 4 X X X p22.33 7566322 7567886 + 3285086 3286650 + 3367045 3368609 + 6093508;6321498 449 ABBA01038685;AC004616;AMYH02038726;K01847;K01848;K01849;NG_000846 ASSP4 APPROVED pseudo HGNC:767 INFERRED 1351034 ASS1P14 argininosuccinate synthetase 1 pseudogene 14 12 12 12 p11.21 12959053 12960616 + 33138672 33140235 + 32985738 32987301 + 6093508;6321498 459 ABBA01031698;AC087311;AMYH02026310;NG_001078 ASSP14 APPROVED pseudo HGNC:764 INFERRED 1349533 ASS1P6 argininosuccinate synthetase 1 pseudogene 6 X Y Y q11.21 1014910 1016498 - 14042991 14044579 - 11922285 11923873 - 12815422;2822495;6093508;9847074 451 ABBA01065714;AC012502;NG_000848 ASSP6 APPROVED pseudo HGNC:769 INFERRED 1346261 ASS1P5 argininosuccinate synthetase 1 pseudogene 5 X X X q23 115334171 115335721 + 114899109 114900659 + 115664789 115666339 + 6093508 450 ABBA01053713;AC005000;AMYH02040281;NG_000847 ASSP5 APPROVED pseudo HGNC:768 INFERRED 1345680 ASS1P8 argininosuccinate synthetase 1 pseudogene 8 4 4 4 q31.22 146767823 146768717 - 149447412 149448306 - 148526260 148527154 - 2435915;6093508;9847074 453 ABBA01070065;AC093881;AMYH02010285;NG_003009 ASSP8 APPROVED pseudo HGNC:771 INFERRED 1353180 ASS1P3 argininosuccinate synthetase 1 pseudogene 3 9 9 9 q21.2 51370364 51371943 + 80793078 80794657 + 78178162 78179741 + 6093508;6321498 158452 ABBA01033943;AL353705;AMYH02021047;K01846;NG_012998 ASSP3 APPROVED pseudo HGNC:766 INFERRED 1348330 ASS1P9 argininosuccinate synthetase 1 pseudogene 9 5 5 5 q11.2 50108512 50110080 + 53154894 53156462 + 53859064 53860632 + 2435915;454;6093508 454 ABBA01015723;AC025175;AMYH02011297;NG_003022 1694706 G43543 ASSP9 APPROVED pseudo HGNC:772 INFERRED 1602905 ASS1P7 argininosuccinate synthetase 1 pseudogene 7 3 3 3 q26.32 175419547 175421112 - 177014711 177016276 - 177296923 177298488 - 6093508;6321498 339845 ABBA01058579;AC117465;AMYH02008196;NG_001079 ASSP7 APPROVED pseudo HGNC:770 INFERRED 1602904 ASTN1 astrotactin 1 Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009] 1 1 1 q25.2 149940230 150244095 - 176826441 177134024 - 176857305 177164904 - 6480464;8554872 12477932;16344560;16710414;18384059;18519826;19086053;20379614;21139048;22488871;3276720;8889548;9070947;9179496 460 A6H8Y4;B1AJS1;O14525;Q96BL7 AB006627;ABBA01027857;ABBA01027858;ABBA01027859;ABBA01027860;AK295126;AK307820;AK309094;AL021398;AL022145;AL031290;AL136983;AMYH02002200;AMYH02002201;AU132309;BC015438;BC032870;BC049377;BC064147;BC142697;BC146795;BF507471;BM722747;BU620695;CH471067;KF454939;KF455086;NM_001286164;NM_004319;NM_207108 AAH15438;AAI42698;AAI46796;BAA22958;BAG58151;EAW91005;EAW91006;EAW91007;EAW91008;NP_001273093;NP_004310;NP_996991;O14525 Hs.495897 1656974;1659075;1668628;1692928;1692968;1704018;1705052;1710542;1714623;1715603;1723679;1725329;1735960;1756455;1771727;1850427;2109073;2115557;2143783;2163786;2163788;2184850;2187129 A001Y13;AL009305;AL034178;AL034201;ASTN_4385;D1S1946E;D1S3037;G16290;G19776;RH118982;RH119977;RH120945;RH123083;RH35833;RH64619;SHGC-143461;SHGC-30553;SHGC-32996;SHGC-75943;SHGC-75953;SHGC-77798;SHGC-78044;SHGC-86317 ASTN;KIAA1747 OTTHUMP00000032985;OTTHUMP00000032986;OTTHUMP00000032987;OTTHUMP00000032988;astrotactin-1 APPROVED protein-coding ENSG00000152092 HGNC:773 09019 600904 VALIDATED 8698738 ASTN2-AS1 ASTN2 antisense RNA 1 9 9 9 q33.1 89914226 89972227 + 119266562 119332354 + 116504283 116562293 + 14702039;23284291 100128505 ABBA01042644;ABBA01042645;AK057447;AK097822;AL133282;AMYH02021536;AMYH02021537;CH471090;HG502372;KF458941;NR_033973 EAW87445 Hs.675821 ncrna ENSG00000229105 HGNC:51175 VALIDATED 1349169 ASTL astacin-like metallo-endopeptidase (M12 family) ENCODES a protein that exhibits metalloendopeptidase activity; peptidase activity; aspartic-type peptidase activity (ortholog); INVOLVED IN proteolysis; cell adhesion (ortholog); fertilization (ortholog); FOUND IN cortical granule (ortholog); cytoplasm (ortholog); plasma membrane (ortholog); INTERACTS WITH indole-3-methanol (ortholog); N-acetyl-L-cysteine (ortholog); N-nitrosodiethylamine (ortholog) 2 2 2 q11.1 91230396 91244982 - 96789589 96804175 - 96123850 96138436 - 1580863;6480464 12477932;15087446;19913121;20628086;24038607 431705 Q3B826;Q6HA08 ABBA01036596;AC012307;AJ537600;AMYH02004325;BC107126;BC107127;CH471207;NM_001002036 AAI07127;AAI07128;CAD61265;EAW71389;NP_001002036;Q6HA08 Hs.447993 MGC129843;SAS1B OTTHUMP00000207420;astacin-like metalloendopeptidase;astacin-like metalloendopeptidase (M12 family);oocyte astacin;ovastacin;sperm acrosomal SLLP1 binding protein-coding ENSG00000188886 HGNC:31704 16396 608860 VALIDATED 1606299 ASTE1 asteroid homolog 1 (Drosophila) ENCODES a protein that exhibits nuclease activity (inferred); INVOLVED IN DNA repair (inferred); nucleic acid phosphodiester bond hydrolysis (inferred); INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; quercetin 3 3 3 q22.1 129157968 129170892 - 130732721 130745698 - 131013873 131026854 - 6480464 12477932;14702039;19503063;24163370 28990 D6R9W5;D6RG30;D6RGH3;D6RJF1;H0Y982;Q2TB18 ABBA01059198;AC055733;AF113539;AK027258;AK027806;AK294156;AK301388;AMYH02007663;BC030274;BC069265;BC103709;BC110616;BM992874;CH471052;NM_001288950;NM_014065;NR_110229;XM_006713609 AAF14876;AAH30274;AAI03710;AAI10617;BAB55383;BAG57480;BAG62927;EAW79214;EAW79215;EAW79216;NP_001275879;NP_054784;Q2TB18;XP_006713672 Hs.100878 2106501;2136188;2156750 HT001__6609;RH11935;RH78727 HT001;MGC129980 OTTHUMP00000216083;OTTHUMP00000216085;protein asteroid homolog 1 protein-coding ENSG00000034533 HGNC:25021 11038 VALIDATED 1342865 ASUN asunder spermatogenesis regulator INVOLVED IN centrosome localization; mitotic spindle organization; protein localization to nuclear envelope; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus (ortholog); INTERACTS WITH cyclosporin A; ethyl methanesulfonate; formaldehyde 12 12 12 p11.23 32204262 32237410 - 27058112 27091254 - 26905179 26938326 - 6480464;8554872 12414650;12477932;12601173;14702039;15489334;15737938;16189514;16344560;17081983;19357193;20133760;21139048;21693764;21890473;21907836;21963094;22863883;22939629;23097494;23904267;24250222;24654937;8125298;8889548 55726 F5H457;F5H5W1;F8VRX9;H0YH12;H0YI01;H0YIA9;Q9NVM9 ABBA01068042;AC024093;AF274950;AK001222;AK001492;AK001499;AK225336;AK297948;AL137401;AMYH02026241;AY211927;BC003081;BC008368;BM684866;CH471094;DB239903;NM_018164;XM_005253422;XM_006719106;XM_006719107;XR_242896 AAH03081;AAH08368;AAK07527;AAO65180;BAA91565;BAA91721;BAA91725;BAG60263;CAB70726;EAW96538;EAW96539;NP_060634;Q9NVM9;XP_005253479;XP_006719169;XP_006719170 Hs.505077 1659784;1720043;1720065;1725991;1726689 G62316;G62581;RH123773;RH123818;RH15768 C12orf11;FLJ10630;FLJ10637;GCT1;Mat89Bb;NET48;SPATA30 OTTHUMP00000240384;asunder, spermatogenesis regulator homolog (Drosphila);cell cycle regulator Mat89Bb homolog;germ cell tumor 1;protein asunder homolog;sarcoma antigen NY-SAR-95;spermatogenesis associated 30 APPROVED protein-coding ENSG00000064102 HGNC:20174 07689 615079 VALIDATED 1314130 ASTN2 astrotactin 2 This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010] 9 9 9 q33.1 89835176 90825037 - 119187504 120177317 - 116425225 117415039 - 6480464;8554872 12477932;14702039;16344560;18839057;18940311;19086053;19910543;20195266;20379614;20889312;22504421;22566634;22658931;22683712;23251661;23284291;23793025;24250222;9734811 23245 B3KN99;B7ZKP4;B7ZKP5;H0Y3A8;H7C3I6;O75129;X6R5P2 AB014534;ABBA01016275;ABBA01016276;ABBA01016277;ABBA01016278;ABBA01042640;ABBA01042641;ABBA01042642;ABBA01042643;ABBA01042644;ABBA01042645;ABBA01042646;AF116574;AI341147;AK024064;AK127350;AK315025;AL133282;AL133284;AL137024;AL157829;AL354981;AL355608;AL358792;AL392085;AL669963;AMYH02021535;AMYH02021536;AMYH02021537;AMYH02021538;AMYH02021539;AMYH02021540;AMYH02021541;AMYH02021542;AMYH02021543;AMYH02021544;BC010680;BC018759;BC029272;BC093835;BC101667;BC143289;BC143292;BC143293;BC146756;BM552790;BX648673;BX649176;CH471090;DA015423;KF458941;KF511081;NG_021409;NM_001184734;NM_001184735;NM_014010;NM_198186;NM_198187;NM_198188 AAF14357;AAH18759;AAH29272;AAH93835;AAI01668;AAI43290;AAI43293;AAI43294;AAI46757;BAA31609;BAG37513;BAG51261;BAG54491;EAW87444;NP_001171663;NP_001171664;NP_054729;NP_937829;NP_937830;NP_937831;O75129 Hs.601562 1335416;1337449;1339025;1650037;1657378;1670082;1671468;1696226;1717321;1724919;1724967;1727687;1749465;1749647;1750135;1756609;1759517;1761217;1763457;1763761;1773310;1777948;1787156;1787196;1848255;1850297;1851201;1851258;1951428;2108595;2110267;2111057;2132993;2150532;5014051;5015661;5019571;5037552;5118686;5125522;7190777;7190781 ASTN2_9326;AU047468;D11S3553;D3S3184;D8S2278;D8S2279;D9S1078;D9S154;D9S1802;D9S2151;D9S219E;D9S754;G10349;G19227;G31091;G63257;REN46569;RH118771;RH119226;RH122151;RH18010;RH18537;SHGC-111190;SHGC-111330;SHGC-112252;SHGC-13641;SHGC-14316;SHGC-143647;SHGC-145228;SHGC-147166;SHGC-147438;SHGC-150831;SHGC-156050;SHGC-31358;SHGC-35384;SHGC-83580;SHGC-86299;SHGC-8898;TRIM32_8005;WI-14828 KIAA0634;bA67K19.1 OTTHUMP00000022742;OTTHUMP00000022743;OTTHUMP00000022745;OTTHUMP00000162109;OTTHUMP00000162110;astrotactin-2;bA264C15.1 APPROVED protein-coding ENSG00000148219 HGNC:17021 12498 612856 REVIEWED 1344717 ASXL3 additional sex combs like transcriptional regulator 3 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH trichostatin A; valproic acid; 17beta-estradiol (ortholog) 18 18 18 q11 27966488 28135348 + 31158541 31331159 + 33578577 33751195 + 6480464;8554872 10737800;11214970;14702039;15138607;16344560;16412590;18976975;20379614;23932459;24324551 80816 K7EIX5;K7EJ76;K7EKI3;K7ELD7;K7ELG8;K7ELW2;K7EQ33;K7EQY1;K7ERH8;Q9C0F0 AA447511;AB051500;ABBA01022465;ABBA01022466;ABBA01022467;AC010798;AC023192;AC090989;AK056450;AK091683;AK131454;AL133050;AMYH02034539;AMYH02034540;BE145544;DB061724;NM_030632;XM_005258356 BAB21804;BAB71186;BAD18599;CAB61377;NP_085135;Q9C0F0;XP_005258413 Hs.464876 1342303;1723509;2117570;7187383 D18S456;D18S830;RH118571 BRPS;KIAA1713 additional sex combs like 3;additional sex combs-like protein 3;putative Polycomb group protein ASXL3 APPROVED protein-coding ENSG00000141431 HGNC:29357 615115;615485 PROVISIONAL 1344611 ASXL1 additional sex combs like transcriptional regulator 1 This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 20 20 20 q11 27702183 27783146 + 30946147 31027122 + 32358334 32439319 + 1580863;6480464;7240710;8554872;8699517 10231032;11780052;12168954;12477932;12657473;1349871;14702039;15489334;16606617;17474147;18239623;18258596;18506748;18624398;18957548;19388938;19586940;19609284;19615732;19815555;19865112;19880879;20182461;20334914;20360068;20408841;20410925;20436459;20596031;20678218;20693432;20805357;20880116;21139048;21307773;21346257;21455215;21576631;21642991;21706002;21712540;21832049;21890473;21904853;21906983;21923651;21963094;21987572;21988832;22031865;22058207;22271902;22419483;22436456;22489043;22505724;22535592;22542624;22897849;22905207;22915647;22929312;23000965;23009937;23018865;23065512;23099237;23294243;23365461;23531518;23602568;23690417;23704076;24077845;24115220;24216483;24496303;24816145;25015289;8889548;9477319 171023 A6NIZ6;H0YJC9;Q498B9;Q5JWS8;Q6P1M8;Q8IXJ9 AB023195;AB084280;ABBA01019268;ABBA01019269;ABBA01019270;ABBA01019271;ABBA01019272;ABBA01019273;ABBA01019274;ABBA01019275;ABBA01019276;ABBA01019277;AJ438952;AK025756;AK122923;AL034550;AL117518;AL117647;AL121583;AMYH02036925;AMYH02036926;BC033284;BC064984;BC100280;BC137278;BC137280;BQ064719;BU686340;BX109122;CH471077;CR977683;KF495689;NG_027868;NM_001164603;NM_015338;XM_006723727;XM_006723728;XM_006723729;XM_006723730;XM_006723731;XM_006723732;XM_006723733 AAH33284;AAH64984;AAI00281;AAI37279;AAI37281;BAA76822;BAD00087;BAG53800;CAB55975;CAB56029;CAD27708;EAW76377;EAW76378;EAW76379;EAW76380;NP_001158075;NP_056153;Q8IXJ9;XP_006723790;XP_006723791;XP_006723792;XP_006723793;XP_006723794;XP_006723795;XP_006723796 Hs.374043 1338523;1669210;1669523;1676660;1770049;1849384;2115904;2138730;2152509;2219012 A004G33;ASXL1_4386;D20S1023;D20S200;RH12044;RH64149;RH66092;RH92532;SHGC-37583;Z94311 BOPS;KIAA0978;MDS;MGC117280;MGC71111 OTTHUMP00000030592;OTTHUMP00000030593;OTTHUMP00000245206;additional sex combs like 1;additional sex combs-like protein 1;polycomb group protein ASXL1;putative Polycomb group protein ASXL1 APPROVED protein-coding ENSG00000171456 HGNC:18318 16516 605039;612990;614286 REVIEWED 1312315 ASXL2 additional sex combs like transcriptional regulator 2 ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see MIM 159555) and polycomb (see MIM 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (Katoh and Katoh, 2003 [PubMed 12888926]).[supplied by OMIM, Sep 2009] 2 2 2 p24.1 25802588 25941650 - 25962253 26101312 - 25733753 25878443 - 6480464;8554872 11214970;12477932;12888926;14702039;15231748;17353931;17672918;18187620;19615732;19815555;20360068;20805357;21047783;21832049;21890473;21906983;21963094;22505724;23000965;24163370;24250222 55252 E7EWD6;Q76L83 AB051472;AB084279;ABBA01045153;ABBA01045154;ABBA01045155;ABBA01045156;ABBA01045157;ABBA01045158;ABBA01045159;ABBA01045160;AC010150;AC064847;AK000649;AK001760;AMYH02003447;AMYH02003448;AMYH02003449;BC042999;BX647527;BX648218;CH471053;CR933613;NM_018263;XM_006712039;XM_006712040 AAH42999;AAY14841;ADZ15626;BAA91889;BAB21776;BAD00086;CAI45930;EAX00716;EAX00717;NP_060733;Q76L83;XP_006712102;XP_006712103 Hs.119815 1683178;1724783;1728547;1739569;1771038;2129372;2174316;2183628;2189539;2219014;5017607 A004H29;ASXL2_4387;D22S1565;D2S2091;G63712;PTGES3;RH122598;RH17952;RH92772;SGC33449;UniSTS:234880 ASXH2;DKFZp686C1968;FLJ10898;KIAA1685 OTTHUMP00000201375;additional sex combs like 2;additional sex combs-like protein 2;polycomb group protein ASXH2;putative Polycomb group protein ASXL2 APPROVED protein-coding ENSG00000143970 HGNC:23805 10676 612991 VALIDATED 1604011 ATAD2B ATPase family, AAA domain containing 2B The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014] 2 2 2 p24.1-p23.3 23812998 23990337 - 23971534 24149978 - 23690576 23927108 - 6480464 10574462;12477932;14702039;21158754;22208759;22586326;23000965;23251661;24561620;8619474;8889548;9110174 54454 C9J1G9;C9JG15;H7BYF1;Q9ULI0 AA767863;AB033066;ABBA01045093;ABBA01045094;ABBA01045095;ABBA01045096;AC009242;AC066692;AC079924;AF038204;AK094821;AK125718;AK131301;AMYH02003407;AMYH02003408;AMYH02003409;AMYH02003410;BC037408;BC071781;BC171846;BM974506;KF456640;NG_029017;NM_001242338;NM_017552;NR_125717;XM_005264372;XM_005264373;XM_006712030;XM_006712031;XM_006712032;XM_006712033;XR_426984 AAH37408;BAA86554;BAC04429;BAD18469;BAG54237;NP_001229267;NP_060022;Q9ULI0;XP_005264429;XP_005264430;XP_006712093;XP_006712094;XP_006712095;XP_006712096 Hs.467862 1650303;1669806;1755215;1788620;5123951 RH126627;RH16288;SHGC-142120;SHGC-34850;WI-14281 KIAA1240;MGC88424 ATPase family AAA domain-containing protein 2B;OTTHUMP00000200738 APPROVED protein-coding ENSG00000119778 HGNC:29230 615347 REVIEWED 1312522 ATAD2 ATPase family, AAA domain containing 2 A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008] 8 8 8 q24.13 120520748 120596364 - 124332090 124408705 - 123319850 123396465 - 737633;6480464 12477932 14702039;15302935;15334068;15342556;15489334;16712791;17081983;17998543;18029348;19056867;19318566;19471022;19843847;20374707;20855524;20864510;21139048;21252943;21693764;21890473;21906983;22178446;22586326;22771493;22914773;23000965;23393560;23752268;23775406 29028 E5RHW7;E5RIP2;Q6PL18 ABBA01037873;ABBA01037874;AC021305;AF118088;AK097133;AL833653;AMYH02018703;AMYH02018704;AY598335;BC007123;BC010686;BC019909;BC112942;BC113656;BC143716;BP314109;CA441499;CB159561;CH471060;CR749832;NM_014109 AAF22032;AAH10686;AAH19909;AAI13657;AAT06746;ADZ15725;BAC04959;CAH18688;CAH56229;EAW92033;EAW92034;EAW92035;EAW92036;NP_054828;Q6PL18 Hs.370834 1650610;1676156;1676258;1740137;2148695;2170362 D8S1689;RH66014;RH77936;RH80934;RH80997;WI-20906 CT137;DKFZp667N1320;MGC131938;MGC142216;MGC29843;MGC5254;PRO2000 AAA nuclear coregulator cancer-associated protein;ANCCA;ATPase family AAA domain-containing protein 2;OTTHUMP00000228392;OTTHUMP00000228393 APPROVED protein-coding ENSG00000156802 HGNC:30123 10678 611941 REVIEWED 1318420 ATAD1 ATPase family, AAA domain containing 1 ENCODES a protein that exhibits ATPase activity (ortholog); INVOLVED IN ATP catabolic process (ortholog); learning (ortholog); memory (ortholog); FOUND IN membrane; peroxisomal membrane; postsynaptic membrane (ortholog); INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 10 10 10 q23.31 83259379 83324398 - 89511608 89601111 - 87751851 87841351 - 737633;1580863;6480464 12477932 14702039;15164054;15489334;16303743;16385451;17203973;19322201;19615732;19946888;20379614;20877624;21139048;21525035;21890473;21906983;21963094;24250222 84896 B4E2J1;Q8NBU5 ABBA01021961;ABBA01021962;AC022016;AF361493;AK027506;AK075223;AK304297;AL133327;AL834370;AMYH02023500;AX235528;BC010868;BC063530;BC073998;CH471066;CQ783876;HH961762;NM_032810;XM_005270251;XM_005270252;XM_005270253 AAH10868;AAH63530;AAH73998;AAL57218;BAB55161;BAC11482;BAG65153;CAC88231;CAD39033;CAF86903;CBX51354;EAW50177;EAW50178;EAW50179;EAW50180;NP_116199;Q8NBU5;XP_005270308;XP_005270309;XP_005270310 Hs.435948 1659731;1717089;2128874;2140191;2181051;2217040 A008T45;ATAD1_3693;G24570;RH121462;SHGC-36683;STS-W32476 AFDC1;FLJ14600;FNP001 ATPase family AAA domain-containing protein 1;OTTHUMP00000020030;OTTHUMP00000020031;THORASE protein-coding ENSG00000138138 HGNC:25903 12499 614452 PROVISIONAL 1604719 ATAD3C ATPase family, AAA domain containing 3C ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 1 1 1 p36.33 1173817 1194284 - 1378152 1405538 + 1449689 1470158 + 6480464 12477932;14702039;21890473;22192748;23455922;24816145 219293 J3QSF3;Q5T2N8 ABBA01016045;ABBA01016046;ABBA01016047;AK074653;AK091918;AK094502;AL157945;AL391244;AMYH02000098;AMYH02000099;BC101211;BC101212;KF495844;NM_001039211;XM_006710451 AAI01212;AAI01213;BAC04369;NP_001034300;Q5T2N8;XP_006710514 Hs.724767 5015861;5015881;5015961;5021872;5022651;7185938 D10S16;D11S2921;D15S1477;GDB:335751;sY3084 FLJ34599;FLJ37183 ATPase family AAA domain-containing protein 3C;ATPase family, AAA domain containing 3A;OTTHUMP00000000561 protein-coding ENSG00000215915 HGNC:32151 13426 VALIDATED 1347003 ATAD3B ATPase family, AAA domain containing 3B ATAD3A (MIM 612316) and ATAD3B are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008] 1 1 1 p36.33 1147640 1172191 - 1407139 1444852 + 1471759 1509472 + 737633;6480464 12477932 10574462;14702039;15489334;16710414;16909202;17148452;17210950;17353931;17550899;18639545;18729074;19156129;19167051;19380743;19596686;19615732;19913121;20186120;20360068;20473970;20877624;21145461;21890473;21906983;22190034;22192748;22268729;22664726;22797925;23443559;23602568;23818839;24239551;24244333;24250222;24639526;24816145 83858 Q5T9A4 AB033099;ABBA01016047;AF343078;AK024028;AK127857;AK290586;AL157945;AL645728;AL834179;AMYH02000099;BC002542;BC009938;BC018701;BQ954571;CH471183;NM_031921;XM_005244806;XM_005244808;XR_241045;XR_426633 AAH02542;AAH18701;AAK38647;BAA86587;BAB14787;BAF83275;CAD38876;EAW56192;EAW56193;EAW56194;NP_114127;Q5T9A4;XP_005244863;XP_005244865 Hs.729021 2107865;2112394;5015619;5020948;5037552;5109281 ATAD3B_8108;D11S3114;D1S1425;D1S3674;D8S2279;G35510 AAA-TOB3;KIAA1273;TOB3 AAA-ATPase TOB3;ATPase family AAA domain-containing protein 3B;OTTHUMP00000000600 APPROVED protein-coding ENSG00000160072 HGNC:24007 10679 612317 PROVISIONAL 1348719 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 INVOLVED IN DNA methylation involved in gamete generation (ortholog); male meiosis (ortholog); piRNA metabolic process (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (ortholog); pi-body (ortholog); INTERACTS WITH fonofos; parathion; pirinixic acid 7 7 7 q31.2 111811458 111875763 - 117003276 117067577 - 117363222 117427523 - 632725;1580863;6480464;8554872 12040005 11279520;12477932;12690205;14702039;15364959;15489334;21378990;21880841;23816659;23966867 136991 C9JP59;F8WDQ2;Q8WWH4 ABBA01057800;AC002465;AF461259;AK093445;AMYH02016636;BC028695;BC034963;BC068488;BC098399;BC126186;BC126188;BC144207;BC144212;CH236947;CH471070;DB457846;HC006784;HC044669;NM_001301821;NM_001301822;NM_130768;NR_023315;XM_006715850;XR_428166 AAH34963;AAI26187;AAI26189;AAI44213;AAL68815;ADR83190;BAC04167;CBH19198;CBH30664;EAL24354;EAW83526;EAW83527;EAW83528;NP_001288750;NP_001288751;NP_570124;Q8WWH4;XP_006715913 Hs.352412 1337222;1340999;1719979;1799392;1805992;1806574;1806794;1807200;1807806;1808308;1809820;1810178;1810668;1813154;1815604;1815606;1816444;1817366;1817456;1817904;1818352;1818480;1818562;1821118;1821120;1821310;1821630;1822434;1825030;1827378;1828216;1828590;1829114;1829430;1831074;1831672;1832750;1834252;1834388;1834606;1836324;1839242;1839244;1840772;1841134;1844206;1844432;1846222;1846306;1846464;1985340;1985342;1985344;1985346;1985348;1985350;1985352;1985354;1985356;1985358;1985360;1985362;1985364;1985366;1985368;1985370;1985372;1985374;1985376;1985378;1985380;1985382;1985384;1985386;1985388;1985390;1985392;1985394;1985396;1985398;1985400;1985402;1985404;1985406;1985408;1985410;1985412;1985414;1985416;1985418;1985420;1985422;1985424;1985426;1985428;1985430;1985432;1985434;1985436;1985438;1985440;1985442;1985444;1985446;1985448;1985450;1985452;1985454;1985456;1985458;1985460;1985462;1985464;1985466;1985468;1985470;1985472;1985474;1985476;1985478;1985480;1985482;1985484;1985486;1985488;1985490;1985492;1985494;1985496;1985498;1985500;1985502;1985504;1985506;1985508;1985510;1985512;1985514;1985516;1985518;1985520;1985522;1985524;1985526;1985528;1985530;1985532;1985534;1985536;1985538;1985540;1985542;1985544;1985546;1985548;1985550;1985552;1985554;1985556;1985558;1985560;1985562;1985564;1985566;1985568;1985570;1985572;1985574;1985576;1985578;1985580;1985582;1985584;1985586;1985588;1985590;1985592;1985594;1985596;1985598;1985600;1985602;1985604;1985606;1985608;1985610;1985612;1985614;1985616;1985618;1985620;1985622;1985624;1985626;1985628;1985630;1985632;1985634;1985636;1985638;1985640;1985642;1985644;1985646;1985648;1985650;1985652;1985654;1985656;1985658;1985660;1985662;1985664;1985666;1985668;1985670;1985672;1985674;1985676;1985678;1985680;1985682;1985684;1985686;1985688;1985690;1985692;1985694;1985696;1985698;1985700;1985702;1985704;1985706;1985708;1985710;1985712;1985714;1985716;1985718;1985720;1985722;1985724;1985726;1985728;1985730;1985732;1985734;1985736;1985738;1985740;1985742;1985744;1985746;1985748;1985750;1985752;1985754;1985756;1985758;1985760;1985762;1985764;1985766;1985768;1985770;1985772;1985774;1985776;1985778;1985780;1985782;1985784;1985786;1985788;1985790;1985792;1985794;1985796;1985798;1985800;1985802;1985804;1985806;1985808;1985810;1985812;1985814;1985816;1985818;2094438;2094440;2094442;2094444;2094446;2094448;2094450;2094452;2094454;2094456;2094458;2094460;2094462;2094464;2094466;2094468;2094470;2094472;2094474;2094476;2094478;2094480;2094482;2094484;2094486;2094488;2094490;2094492;2094494;2094496;2094498;2094500;2094502;2094504;2094506;2094508;2094510;2094512;2094514;2094516;2094518;2094520 D6S409;D7S633;ECD00547;ECD03949;ECD04244;ECD04359;ECD04566;ECD04878;ECD05135;ECD05902;ECD06081;ECD06328;ECD07596;ECD08839;ECD08840;ECD09264;ECD09733;ECD09778;ECD10006;ECD10233;ECD10301;ECD10343;ECD11636;ECD11637;ECD11735;ECD11901;ECD12305;ECD13614;ECD14804;ECD15233;ECD15422;ECD15684;ECD15846;ECD16673;ECD16973;ECD17516;ECD18274;ECD18342;ECD18451;ECD19324;ECD20801;ECD20802;ECD21577;ECD21761;ECD23316;ECD23430;ECD24331;ECD24373;ECD24452;REN63571;REN63572;REN63573;REN63574;REN63575;REN63576;REN63577;REN63578;REN63579;REN63580;REN63581;REN63582;REN63583;REN63584;REN63585;REN63586;REN63587;REN63588;REN63589;REN63590;REN63591;REN63592;REN63593;REN63594;REN63595;REN63596;REN63597;REN63598;REN63599;REN63600;REN63601;REN63602;REN63603;REN63604;REN63605;REN63606;REN63607;REN63608;REN63609;REN63610;REN63611;REN63612;REN63613;REN63614;REN63615;REN63616;REN63617;REN63618;REN63619;REN63620;REN63621;REN63622;REN63623;REN63624;REN63625;REN63626;REN63627;REN63628;REN63629;REN63630;REN63631;REN63632;REN63633;REN63634;REN63635;REN63636;REN63637;REN63638;REN63639;REN63640;REN63641;REN63642;REN63643;REN63644;REN63645;REN63646;REN63647;REN63648;REN63649;REN63650;REN63651;REN63652;REN63653;REN63654;REN63655;REN63656;REN63657;REN63658;REN63659;REN63660;REN63661;REN63662;REN63663;REN63664;REN63665;REN63666;REN63667;REN63668;REN63669;REN63670;REN63671;REN63672;REN63673;REN63674;REN63675;REN63676;REN63677;REN63678;REN63679;REN63680;REN63681;REN63682;REN63683;REN63684;REN63685;REN63686;REN63687;REN63688;REN63689;REN63690;REN63691;REN63692;REN63693;REN63694;REN63695;REN63696;REN63697;REN63698;REN63699;REN63700;REN63701;REN63702;REN63703;REN63704;REN63705;REN63706;REN63707;REN63708;REN63709;REN63710;REN63711;REN63712;REN63713;REN63714;REN63715;REN63716;REN63717;REN63718;REN63719;REN63720;REN63721;REN63722;REN63723;REN63724;REN63725;REN63726;REN63727;REN63728;REN63729;REN63730;REN63731;REN63732;REN63733;REN63734;REN63735;REN63736;REN63737;REN63738;REN63739;REN63740;REN63741;REN63742;REN63743;REN63744;REN63745;REN63746;REN63747;REN63748;REN63749;REN63750;REN63751;REN63752;REN63753;REN63754;REN63755;REN63756;REN63757;REN63758;REN63759;REN63760;REN63761;REN63762;REN63763;REN63764;REN63765;REN63766;REN63767;REN63768;REN63769;REN63770;REN63771;REN63772;REN63773;REN63774;REN63775;REN63776;REN63777;REN63778;REN63779;REN63780;REN63781;REN63782;REN63783;REN63784;REN63785;REN63786;REN63787;REN63788;REN63789;REN63790;REN63791;REN63792;REN63793;REN63794;REN63795;REN63796;REN63797;REN63798;REN63799;REN63800;REN63801;REN63802;REN63803;REN63804;REN63805;REN63806;REN63807;REN63808;REN63809;REN63810;RH123968;stSG598599;stSG598600;stSG598601;stSG598602;stSG598603;stSG598604;stSG598605;stSG598606;stSG598607;stSG598608;stSG598609;stSG598610;stSG598611;stSG598612;stSG598613;stSG598614;stSG598615;stSG598616;stSG598617;stSG598618;stSG598619;stSG598620;stSG598621;stSG598622;stSG598623;stSG598624;stSG598625;stSG598628;stSG598629;stSG598631;stSG598632;stSG598633;stSG598634;stSG598635;stSG598636;stSG598637;stSG598638;stSG598639;stSG598640;stSG598641;stSG598642;stSG598643 ALP1;ANKL1;C7orf7;CT1.19;GASZ;MGC26634;Orf3 4933400N19Rik;OTTHUMP00000069161;ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1;ankyrin-like 1;ankyrin-like protein 1;germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein protein-coding ENSG00000154438 HGNC:1350 10677 605797 VALIDATED 1347627 ATAT1 alpha tubulin acetyltransferase 1 ENCODES a protein that exhibits coenzyme binding; tubulin N-acetyltransferase activity; INVOLVED IN alpha-tubulin acetylation; FOUND IN mitotic spindle; INTERACTS WITH cadmium atom; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 p21.33 32192731 32212715 + 30594613 30614598 + 30626836 30646821 + 6480464 12477932;14702039;16344560;19851445;20829795;21832049;23071314;23071318;23602568;24097348;24250222;24846647;24906155;8125298 79969 B7Z4Q7;Q5SQI0;Q8TAV6 AB075512;ABBA01038051;AK023220;AK225107;AK297661;AK298743;AL535697;AL662800;AL732442;AL833858;AL845353;AMYH02013437;BC006105;BC025755;BC047303;BX119957;BX418089;BX418559;BX442806;BX908728;CH471081;CR753328;CR759778;CX786272;DB090032;NM_001031722;NM_001254952;NM_024909;XM_005249414;XM_005249415;XM_005249416;XM_005249417;XM_005249418;XM_005249419;XM_005249420;XM_005249421;XM_005249422;XM_005272895;XM_005272896;XM_005272897;XM_005272898;XM_005272899;XM_005272900;XM_005272901;XM_005272902;XM_005272903;XM_005275050;XM_005275051;XM_005275052;XM_005275053;XM_005275054;XM_005275055;XM_005275056;XM_005275057;XM_005275058;XM_005275185;XM_005275186;XM_005275187;XM_005275188;XM_005275189;XM_005275190;XM_005275191;XM_005275192;XM_005275193;XM_005275307;XM_005275308;XM_005275309;XM_005275310;XM_005275311;XM_005275312;XM_005275313;XM_005275314;XM_005275315;XM_005275480;XM_005275481;XM_005275482;XM_005275483;XM_005275484;XM_005275485;XM_005275486;XM_005275487;XM_005275488;XM_005275611;XM_005275612;XM_005275613;XM_005275614;XM_005275615;XM_005275616;XM_005275617;XM_005275618;XM_005275619;XM_006715214;XM_006725528;XM_006725747;XM_006725854;XM_006725943;XM_006726044;XM_006726132;XR_241917;XR_241918;XR_241919;XR_241920;XR_246968;XR_246969;XR_246970;XR_246971;XR_247355;XR_247356;XR_247357;XR_247358;XR_247376;XR_247377;XR_247378;XR_247379;XR_247391;XR_247392;XR_247393;XR_247394;XR_247407;XR_247408;XR_247409;XR_247410;XR_247428;XR_247429;XR_247430;XR_247431 AAH06105;AAH25755;AAH47303;BAB14472;BAE45758;BAH12643;BAH12864;CAD38717;EAX03306;EAX03307;EAX03308;EAX03309;NP_001026892;NP_001241881;NP_079185;Q5SQI0;XP_005249471;XP_005249472;XP_005249473;XP_005249474;XP_005249475;XP_005249476;XP_005249477;XP_005249478;XP_005249479;XP_005272952;XP_005272953;XP_005272954;XP_005272955;XP_005272956;XP_005272957;XP_005272958;XP_005272959;XP_005272960;XP_005275107;XP_005275108;XP_005275109;XP_005275110;XP_005275111;XP_005275112;XP_005275113;XP_005275114;XP_005275115;XP_005275242;XP_005275243;XP_005275244;XP_005275245;XP_005275246;XP_005275247;XP_005275248;XP_005275249;XP_005275250;XP_005275364;XP_005275365;XP_005275366;XP_005275367;XP_005275368;XP_005275369;XP_005275370;XP_005275371;XP_005275372;XP_005275537;XP_005275538;XP_005275539;XP_005275540;XP_005275541;XP_005275542;XP_005275543;XP_005275544;XP_005275545;XP_005275668;XP_005275669;XP_005275670;XP_005275671;XP_005275672;XP_005275673;XP_005275674;XP_005275675;XP_005275676;XP_006715277;XP_006725591;XP_006725810;XP_006725917;XP_006726006;XP_006726107;XP_006726195 Hs.654798 1666547;1677824;1685379;1697858;1729179;1776546;1786124;2189615 C4_2_25;D6S1149E;RH102456;RH68972;RH8148;RH98618;SHGC-172547;UniSTS:146572 C6orf134;DKFZp547J097;FLJ13158;MEC17;Nbla00487;TAT OTTHUMP00000029316;OTTHUMP00000029318;OTTHUMP00000029319;OTTHUMP00000163694;OTTHUMP00000163695;OTTHUMP00000163696;acetyltransferase MEC-17;acetyltransferase mec-17 homolog;alpha-TAT;alpha-TAT1;alpha-tubulin N-acetyltransferase;alpha-tubulin N-acetyltransferase 1;hypothetical protein LOC79969 APPROVED protein-coding ENSG00000137343 HGNC:21186 12850 615556 VALIDATED 1314304 ATAD3A ATPase family, AAA domain containing 3A ATAD3A and ATAD3B (MIM 612317) are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008] 1 1 1 p36.33 1110376 1132920 - 1447523 1470067 + 1512143 1534687 + 737633;6480464;8554872 12477932 14702039;15489334;16055720;16344560;16710414;17110338;17148452;17210950;17353931;18063578;18639545;19041431;19156129;19531213;19738201;20154147;20332122;20349121;20351179;20360068;20473970;20877624;21139048;21145461;21182205;21584487;21743956;21890473;21906983;21907836;21987572;22190034;22192748;22268729;22318359;22542587;22586326;22623428;22664726;23182705;23443559;23455922;24057885;24239551;24244333;24250222;24457600;24550385;24639526;24816145 55210 H0Y2W2;Q5SV16;Q9NVI7 ABBA01016051;ABBA01016052;AK001571;AK025865;AK056099;AK091144;AK092833;AK310572;AL645728;AMYH02000100;AMYH02000101;AMYH02000102;BC007803;BC011814;BC014101;BC033109;BC063607;CH471183;DA206969;GU189416;NM_001170535;NM_001170536;NM_018188 AAH07803;AAH11814;AAH14101;AAH33109;AAH63607;ACZ80514;BAA91764;BAC03595;BAG51625;EAW56186;EAW56187;EAW56188;EAW56189;EAW56190;EAW56191;NP_001164006;NP_001164007;NP_060658;Q9NVI7 Hs.23413 2107865;2112394;2150645 ATAD3B_8108;D1S3674;SHGC-74117 FLJ10709;FLJ35514 ATPase family AAA domain-containing protein 3A;OTTHUMP00000000594;OTTHUMP00000000595;OTTHUMP00000000596 APPROVED protein-coding ENSG00000197785 HGNC:25567 12500 612316 VALIDATED 1351713 ATD asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) ASSOCIATED WITH Jeune syndrome (inferred) 7240710 7702088 465 HGNC:780 208500 1319593 ATCAY ataxia, cerebellar, Cayman type This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3818196 3865544 + 3880618 3928080 + 3880620 3928082 + 1599351;1599348;5133436;6480464;7240710;8699517;8554872 14556008;16246457;17092653 11347906;12477932;14702039;15489334;16275660;16344560;16899818;17207965;19165527;19861499;21782286;21832049;23226316;8845847 85300 B4DS11;M0R197;M0R225;Q86WG3 AB058775;ABBA01002852;ABBA01002853;ABBA01002854;ABBA01002855;ABBA01002856;ABBA01002857;AC011488;AK027889;AK092309;AK125457;AK299522;AMYH02035265;AY220297;BC008736;BC014884;BC026217;BF516378;BX505461;CH471139;DA151785;DA778097;NG_012638;NM_033064 AAH26217;AAO63019;ADQ32311;BAB47501;BAC03859;BAG54199;BAG61473;EAW69280;NP_149053;Q86WG3 Hs.418055 5015861;5016478;5020946;5022383;5022450;5022578;5022651;5037552;5109281;7185938 D10S16;D10S275;D11S2921;D1S1423;D1S1425;D8S2279;ECD04345;GDB:434012;L17971 BNIP-H;CLAC;KIAA1872 BNIP-2-homolgy;BNIP-2-homology;Cayman ataxia;ataxia cayman type protein;caytaxin APPROVED protein-coding ENSG00000167654 HGNC:779 10491 601238;608179 REVIEWED 8165677 ATE1-AS1 ATE1 antisense RNA 1 (head to head) 10 10 10 q26.13 117419789 117443453 + 123687862 123711480 + 121949341 121951965 + 20379614 100130887 ABBA01062854;AI634505;AL731566;AMYH02023944;BF434328;BF513344;NR_120495;XR_246198;XR_247577;XR_252829 Hs.650058 APPROVED ncrna HGNC:49496 VALIDATED 1316513 ATF1 activating transcription factor 1 This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010] 12 12 12 q13 49959051 50016446 + 51157789 51214943 + 50764006 50821160 + 1580863;2316104;6480464 19924104 10567391;10585419;10722738;10945975;11014230;11018520;11877423;11909979;11992546;12195699;12391222;12444143;12477932;12527906;12631284;12734209;12748173;12760902;12805554;14767471;15041276;15276183;15489334;15806162;15884099;16227528;16327442;16344560;1655749;16716376;17565989;18794154;18950845;19561568;19714462;19913121;19950226;20398657;20413592;20453000;20536573;20628086;20945072;20972440;21484932;21658281;21890473;2196176;21963094;22052915;22505724;22510762;22631637;22939629;23000965;24051143;24816145;2516827;7730336;8384217;8401579;8570175;8621702;8663317;8798441;8889548;9016641;9671480;9685505;9824209 466 AAB25878;F8VRN2;F8VS03;F8VYE5;F8VYN3;P18846 ABBA01031587;ABBA01031588;AC013244;AK299240;AK313406;AMYH02026469;AMYH02026470;BC029619;BG502726;BG545632;BG611151;BG611861;BI712653;BU682151;BX102171;CH471111;DA468394;NG_027673;NM_005171;X55544 AAB25878;AAH29619;ABZ91993;ABZ92155;BAG36201;BAG61271;CAA39150;EAW58151;NP_005162;P18846 Hs.648565 1698538;1768662;1848419;2138157;2218262;5093150 A009H30;ATF1_4332;G32549;RH102820;RH44890;RH71282 EWS-ATF1;FUS/ATF-1;TREB36 OTTHUMP00000241242;OTTHUMP00000241244;cAMP-dependent transcription factor ATF-1;cyclic AMP-dependent transcription factor ATF-1 APPROVED protein-coding ENSG00000123268 HGNC:783 00440 123803 REVIEWED 1605345 ATAD5 ATPase family, AAA domain containing 5 ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN cellular response to DNA damage stimulus (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; calcitriol 17 17 17 q11.2 26081154 26143209 + 29159020 29222295 + 30832002 30895277 + 6480464 10843809;11468690;12477932;14702039;15983387;17632510;18391951;19291764;19471022;19755857;20147293;20379614;20546612;20881960;21555454;21640107;21693764;21896657;21901109;21906983;21963094;23277426;23563607;23937667;24816145 79915 Q96QE3 ABBA01014979;ABBA01014980;ABBA01014981;ABBA01014982;ABBA01014983;ABBA01014984;ABBA01014985;AC127024;AC130324;AJ314648;AK022797;AL832103;AMYH02033282;AMYH02033283;AMYH02033284;AMYH02033285;AY557611;BC015051;NM_024857 AAH15051;AAI48344;AAT52049;BAB14248;CAC44537;CAH10412;NP_079133;Q96QE3 Hs.528902 1753469;1768628;2155173 RH44898;SHGC-107412;SHGC-33441 C17orf41;ELG1;FLJ12735;FRAG1 ATPase family AAA domain-containing protein 5;OTTHUMP00000163682;chromosome fragility associated gene 1;chromosome fragility-associated gene 1 protein;enhanced level of genomic instability 1 homolog protein-coding ENSG00000176208 HGNC:25752 07792 609534 PROVISIONAL 3539572 ATF1P1 activating transcription factor 1 pseudogene 1 6 6 6 q16.1 94017738 94018529 - 93596985 93597776 - 92887267 92888058 - 100128159 ABBA01040577;AL356956;AMYH02014120;NG_016455 1786008 SHGC-154984 pseudo HGNC:37691 INFERRED 1319626 ATE1 arginyltransferase 1 This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 10 10 10 q26.13 117234468 117419505 - 123499939 123688149 - 121740421 121928801 - 1580863;6480464 12477932;14702039;15489334;16002466;16385451;16943202;19615732;20379614;21139048;21263130;21906983;22262859;22280815;22665520;22863883;23455924;9858543 11101 B3KWA3;B4DK25;B4E107;F5GXE4;H0Y5C2;O95260;Q5SQQ1 ABBA01062854;ABBA01062855;ABBA01062856;ABBA01062857;ABBA01062858;ABBA01062859;ABBA01062860;ABBA01062861;ABBA01062862;AC025947;AF079098;AF079099;AK124669;AK292657;AK295642;AK296356;AK299101;AK303604;AK308926;AK313057;AL731542;AL731566;AMYH02023942;AMYH02023943;AMYH02023944;BC022026;CH471066;HY046979;NM_001001976;NM_001288734;NM_001288735;NM_001288736;NM_007041;NR_110006;XM_005269456;XM_005269458;XM_005269459;XM_005269460;XM_005269461 AAD12366;AAD12367;AAH22026;ABM83018;ABM86211;BAF85346;BAG35887;BAG54065;BAG58513;BAG59037;BAG61160;BAG64619;EAW49334;EAW49335;EAW49336;NP_001001976;NP_001275663;NP_001275664;NP_001275665;NP_008972;O95260;XP_005269513;XP_005269515;XP_005269516;XP_005269517;XP_005269518 Hs.632080 1703194;1713247;1720927;1777679;2108703;2184536;2184538 ATE1_9219;G59293;RH120614;RH44797;SGC32262;SHGC-36497;STS-AA011535 MGC26724 OTTHUMP00000020637;OTTHUMP00000020638;R-transferase 1;arginine-tRNA--protein transferase 1;arginyl-tRNA--protein transferase 1;arginyl-tRNA-protein transferase APPROVED protein-coding ENSG00000107669 HGNC:782 06979 607103 REVIEWED 735760 ATF3 activating transcription factor 3 This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011] 1 1 1 q32.3 185964759 186020178 + 212738676 212794119 + 212565334 212620777 + 1580863;2302137;6480464;5143919;8554872 16322555;18061509 11375399;11726207;11792711;11810028;12034827;12161427;12372430;12386811;12392999;12477932;12718878;12805554;12833146;12881527;14667575;14673171;14702039;14759258;15280448;15385533;15489334;15670751;15933712;16079301;16109718;16169070;16263788;16286461;16291753;16300731;16306208;16344560;16484797;16613840;16912181;16989641;17014422;17042743;17102133;17178897;17295236;17437852;17599613;17952119;18001166;18029348;18192274;18235102;18255255;1827203;18426833;18692824;18755691;18802113;18922905;19050264;19060337;19136462;19164757;19219066;19582787;19647793;19913121;19932681;20002170;20110283;20167600;20180416;20211142;20215396;20304822;20351107;20360311;20398657;20413626;20423458;20485437;20581861;20592017;20628086;20696134;20930144;21061913;21129190;21139048;21191795;21294679;21300803;21315420;21324310;21414204;21421043;21451046;21454613;21467165;21495874;21514952;21554132;21593605;21629765;21645504;21668942;21693764;21801305;21821004;21844328;21900211;21906983;21927023;21986529;22046379;22179317;22347845;22475484;22485215;22665497;22753726;22764884;22768301;22851689;22939624;22978410;22989952;22991139;23002211;23088992;23187734;23269699;23455924;23536558;23560949;23648135;23661758;23706953;23733932;23868936;23921126;24098051;24133584;24420912;24460316;24509533;24554706;24600036;2516827;7515060;7692236;8152431;8576171;8622660;8649793 467 P18847;Q5VTZ4 AB066566;AB078026;AB078027;AB078028;AB209032;ABBA01048167;ABBA01048168;AC092803;AI492228;AI949953;AK123699;AK125255;AK294296;AK312998;AL560585;AL590648;AL606913;AMYH02002643;AMYH02002644;AMYH02002645;AU135799;AY313926;AY313927;AY426987;BC006322;BI524020;BI819383;BT006996;CD638624;CD641946;CD742713;CH471100;CR450334;DA589280;DA691940;DB197400;L19871;NG_029871;NM_001030287;NM_001040619;NM_001206484;NM_001206486;NM_001206488;NM_001674;U37542;XM_005273146 AAA20506;AAH06322;AAP35642;AAP93895;AAP93896;AAQ93358;ABM83649;ABM86898;BAB84092;BAC00495;BAC00496;BAC05510;BAD92269;BAG35834;BAG57579;CAG29330;EAW93383;EAW93384;EAW93385;EAW93386;EAW93387;EAW93388;NP_001025458;NP_001035709;NP_001193413;NP_001193415;NP_001193417;NP_001665;P18847;XP_005273203 Hs.460 1341238;1674063;1676656;1791606;2126211;2129636;2145348;5023244 AL009578;D1S1667;D1S3565;PMC117192P1;RH17630;RH69028;SHGC-12563;SHGC-76330 FLJ41705 ATF3deltaZip2;ATF3deltaZip2c;ATF3deltaZip3;OTTHUMP00000034887;OTTHUMP00000034888;OTTHUMP00000034890;OTTHUMP00000038593;OTTHUMP00000038594;cAMP-dependent transcription factor ATF-3;cyclic AMP-dependent transcription factor ATF-3 APPROVED protein-coding ENSG00000162772 HGNC:785 04395 603148 REVIEWED 733712 ATF4 activating transcription factor 4 This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011] 22 22 22 q13.1 23718625 23720747 + 39916569 39918691 + 39520564 39522686 + 1580863;734979;6480464;6907045 10096021 10419887;10591208;11018027;11025215;11087824;11238952;11274184;11564156;11960987;12477932;12689582;12743605;12805554;12812986;12860379;1371974;14561767;14623284;14630807;14630918;14695168;14747470;15277680;15314157;1534408;15385533;15461802;15475356;15489334;15677469;15775988;15788408;16169070;16189514;16219772;16343488;16682973;16687408;16751776;17042743;17346882;17347301;17369260;17684156;17707795;17726049;17822787;17938202;17996332;18052253;18163433;18171674;18189280;18195013;18255255;1827203;18276110;18330356;18408768;18451308;1847461;18635891;18697751;18940792;19017641;19053519;19061639;19073601;19114033;19164757;19193809;19251251;19417138;19447967;19453261;19509279;19855386;19922526;19946894;20022965;20185790;20211142;20398657;20473272;20514020;20551969;20564243;20592469;20724472;20732869;20873783;20936779;21044953;21087962;21113145;21203563;21244365;21683813;21693764;21706477;21801305;21832049;21866569;21906983;21951999;21963094;21966512;21988832;22007000;22016052;22017875;22050711;22052162;22082360;22233381;22246806;22338651;22363646;22422769;22435535;22485215;22609407;22691366;22813743;22848420;22915762;22955275;23001845;23078367;23090478;23128233;23153536;23205607;23241898;23242184;23339444;23392669;23471465;23661758;23665047;23792164;23891064;23908598;23916134;23975372;24021586;24100623;24308964;24330582;24418603;24853302;2516827;8939898;9190894;9295363;9488481 468 P18848;Q96AQ3 ABBA01055574;AK057751;AK296028;AL022312;AMYH02038383;BC008090;BC011994;BC016855;BC022088;BC024775;BC044895;BC073754;BC073990;CH471095;CR450353;CR456384;D90209;M86842;NM_001675;NM_182810 AAA52071;AAH08090;AAH11994;AAH16855;AAH22088;AAH24775;AAH44895;AAH73754;AAH73990;ABM82684;ABM85868;BAA14234;BAG58796;CAG29349;CAG30270;CAK54373;CAK54672;EAW60341;EAW60342;NP_001666;NP_877962;P18848 Hs.496487 1776635;1792878;2158482;2218264;5113387 ATF4_4333;PMC166200P2;RH48164;RH71390;RH79684 CREB-2;CREB2;TAXREB67;TXREB DNA-binding protein TAXREB67;OTTHUMP00000199130;OTTHUMP00000199131;activating transcription factor atf-4;cAMP response element-binding protein 2;cAMP-dependent transcription factor ATF-4;cAMP-responsive element-binding protein 2;cyclic AMP-dependent transcription factor ATF-4;cyclic AMP-responsive element-binding protein 2;tax-responsive enhancer element B67;tax-responsive enhancer element-binding protein 67 APPROVED protein-coding ENSG00000128272 HGNC:786 06817 604064 REVIEWED 1353507 ATF4P1 activating transcription factor 4 pseudogene 1 X X X q28 153968835 153970275 + 153850591 153852031 - 154622340 154623780 - 11410370;11709543;8088803 469 ABBA01029065;AC244107;AF277315;NG_001080;U03712 1813312;1827662;2102696;2102698;2102700;2102740;2102742 ECD07676;ECD14951;stSG604158;stSG604159;stSG604160;stSG604188;stSG604189 ATF4P;TAXREB67P;TXREBP activating transcription factor 4 pseudogene (tax-responsive enhancer element b67 pseudogene);uncharacterized protein LOC643894 pseudo HGNC:789 INFERRED 2291806 ATF4P2 activating transcription factor 4 pseudogene 2 X X X q28 153968835 153970275 + 153808909 153810349 + 154580646 154582086 + 11410370;11709543;8088803 340600 AC244090;AF277315;NG_002951 1813312;1827662;2102696;2102698;2102700;2102740;2102742 ECD07676;ECD14951;stSG604158;stSG604159;stSG604160;stSG604188;stSG604189 pseudo HGNC:34025 INFERRED 1344419 ATF4P4 activating transcription factor 4 pseudogene 4 11 11 11 q23.2 110813721 110815056 + 113660760 113662175 + 113790038 113791453 + 10610718 100127952 ABBA01039782;AMYH02025595;AP003170;NG_021835 ATF4B APPROVED pseudo HGNC:787 INFERRED 1350993 ATF5 activating transcription factor 5 ENCODES a protein that exhibits RNA polymerase II regulatory region sequence-specific DNA binding; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 19 19 19 q13.3 47301474 47306707 + 50431959 50437193 + 49928702 49933936 + 1580863;6480464;8554872 10373550;11087824;11278933;12477932;12812986;1371974;14702039;15221005;15342556;15358120;15489334;15890932;16164412;16170340;16300731;16344560;17346882;18029348;18055463;18195013;18276110;18332083;18458088;18701499;18832568;19167516;19251251;19285020;19531563;20379614;20423929;21212266;21521685;21791614;21972289;21988832;22442021;22528486;23018213;23275563;23661758;23876217;24250222;24302293;24379400;8889548 22809 M0QZD2;M0R040;M0R0D5;Q9Y2D1 AB021663;AB073613;ABBA01032907;AC011452;AF101388;AF305687;AK024402;AK091985;AK290592;AMYH02036335;AX090307;AX884016;BC005174;BF528888;BM462249;BP378116;BU187153;BU730542;CH471177;DA251296;DA684664;HY011917;NG_021170;NG_023448;NM_001193646;NM_001290746;NM_012068 AAD28370;AAG22558;AAH05174;BAA78477;BAD38650;BAF83281;BAG51295;CAC34908;CAE92201;EAW52581;EAW52582;EAW52583;NP_001180575;NP_001277675;NP_036200;Q9Y2D1 Hs.9754 1681217;2129143 D19S669E;RH79668 ATFX;FLJ34666;HMFN0395 cAMP-dependent transcription factor ATF-5;cyclic AMP-dependent transcription factor ATF-5;transcription factor ATFx 1643251 BW139_H protein-coding ENSG00000169136 HGNC:790 05906 606398 VALIDATED 1352172 ATF4P3 activating transcription factor 4 pseudogene 3 17 17 17 q25.1 70815673 70817094 - 74221746 74223167 - 76225665 76227086 - 10610718 643159 ABBA01028754;AC015801;AMYH02034007;NG_009319 1776635 RH71390 ATF4C APPROVED pseudo HGNC:788 INFERRED 732287 ATF2 activating transcription factor 2 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014] 2 2 2 q32 169552560 169646448 - 175936978 176032934 - 175072250 175168206 - 704409;1580863;6480464;5135029;6484113;6907045;8554872 11125071;21641970 10066798;10085140;10207054;10327051;10357819;10393177;10567391;10708586;10821277;10878576;10909971;11231009;11259586;11279118;11302752;11564156;11566021;11713276;11836564;11839738;11932306;12110590;12200150;12244047;12270648;12477932;12592382;12663670;12697749;12761180;12788955;12804775;12805554;12833146;12874243;12958075;14499342;14630918;14678960;14734562;14988408;15105425;15276183;15302935;15304344;15546613;15691875;15692053;15878807;15916964;16049073;16179804;16300731;16303757;16344560;1641004;16418168;16456540;16511568;16533805;16869889;16896160;17036053;17054722;17081983;17082618;17244683;17254968;17258390;17296604;17337306;17626013;17681939;17869487;17875713;18029348;18077426;1827203;1828107;18307971;1833307;18348191;1838349;18396163;18397884;18547788;18671972;18677098;18700251;19082758;19135240;19176525;19184334;19278424;19331149;19453261;19487697;19712049;19822663;19861239;19913121;19923798;19944700;20051382;20068037;20116378;20195357;20211142;20213747;20379614;20398657;20498639;20507983;20581861;20619956;20628086;20675274;20956942;21098032;21203491;21278380;21384452;21444723;21565167;21832049;21858082;21890473;21901137;21988832;21990224;22275354;22304920;22351776;22439931;22685333;22843696;23000965;2320002;23416976;23589174;23591579;23656735;23661758;23800081;23966864;24223142;24289970;24338393;24780446;2516827;2521922;2529117;602896;7535770;7737129;7737130;7769693;7774816;8027667;8440710;8628277;8654373;8798441;9030721;9058782;9110174;9139739;9155018;9162092;9207092;9207191;9235954;9399639;9405416;9445037;9488727;9524124;9628874;9659924;9671405;9685505;9748258;9786917;9873047;9920921 1386 A4D7V5;B3KY57;B8ZZU6;C9JCI8;E9PBF9;E9PEK8;F2Z2K2;F5H629;H7C2N6;P15336 ABBA01062202;ABBA01062203;ABBA01062204;AC007435;AC074291;AC096649;AC131958;AF283776;AI200584;AK128731;AL050192;AMYH02005284;AMYH02005285;AY029364;BC026175;BC107698;BC130335;BC130337;BX648469;CH471058;DA995464;DQ003036;DQ003037;DQ003038;DQ003039;DQ003040;DQ003041;DQ003042;DQ003043;DQ003044;DQ003045;DQ003046;DQ003047;DQ003048;DQ003049;KF456745;M31630;NM_001256090;NM_001256091;NM_001256092;NM_001256093;NM_001256094;NM_001880;NR_045768;NR_045769;NR_045770;NR_045771;NR_045772;NR_045773;NR_045774;X15875 AAA35951;AAH26175;AAI07699;AAI30336;AAI30338;AAK55760;AAX88876;AAY15004;AAY17202;AAY17203;AAY17204;AAY17205;AAY17206;AAY17207;AAY17208;AAY17209;AAY17210;AAY17211;AAY17212;AAY17213;AAY17214;AAY17215;ADR83024;BAG54719;CAA33886;EAX11109;EAX11110;EAX11111;EAX11112;EAX11113;NP_001243019;NP_001243020;NP_001243021;NP_001243022;NP_001243023;NP_001871;P15336 Hs.592510 1668093;1680090;1682489;2106955;2126323;2160189;5126545 ATF2_7769;RH80244;RH80902;SGC38090;SHGC-31988;SHGC-33561;WI-18856 CRE-BP1;CREB-2;CREB2;HB16;MGC111558;TREB7;ratf2 OTTHUMP00000163262;OTTHUMP00000205344;OTTHUMP00000205345;OTTHUMP00000205347;OTTHUMP00000205348;OTTHUMP00000205350;OTTHUMP00000205352;OTTHUMP00000205353;OTTHUMP00000205354;activating transcription factor 2 splice variant ATF2-var2;cAMP response element-binding protein CRE-BP1;cAMP responsive element binding protein 2, formerly;cAMP-dependent transcription factor ATF-2;cAMP-responsive element-binding protein 2;cyclic AMP-dependent transcription factor ATF-2;cyclic AMP-responsive element-binding protein 2;histone acetyltransferase ATF2 APPROVED protein-coding ENSG00000115966 HGNC:784 00443 123811 REVIEWED 1346168 ATF6B activating transcription factor 6 beta The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 6 6 6 p21.3 33650086 33663069 - 32083045 32096017 - 32115268 32128240 - 1580863;6480464;6907045;8554872 10644760;11158310;11163209;11256944;12445808;12477932;12782636;14574404;14656967;14702039;14973138;18029348;19693772;19851445;19913121;20628086;21139048;21693764;22094256;23535732;23577725;23661758;23886662;24250222;7686164;8586413;8870652;8923003 1388 H0Y7D7;Q6AZW6;Q99941 ABBA01038104;AK000928;AL049547;AL662828;AL662884;AMYH02013466;BC008394;BC077075;BT007042;CH471081;CR753803;CR925796;NG_033940;NM_001136153;NM_004381;U31903;U52693;U52694;U52696;U52701;U89337;X98053;X98054 AAA97438;AAB47487;AAG14898;AAG14900;AAH08394;AAH77075;AAP35691;CAA66663;CAA66664;CAB89295;EAX03581;EAX03582;EAX03583;EAX03584;EAX03585;NP_001129625;NP_004372;Q99941 Hs.42853 1687938;1788596;2114344;2137972;2140482;2189367;2218436;5014051;5015619;5016478;5037552 CREBL1_4188;D11S3114;D8S2278;D8S2279;GDB:434012;MARC2535-2536;MARC_2920-2921:991933729:7;RH46843;RH92380;STS-N24775;STS-X98054 ATF6-beta;CREB-RP;CREBL1;FLJ10066;G13 Creb-related protein;OTTHUMP00000029432;OTTHUMP00000029433;cAMP response element-binding protein-related protein;cAMP responsive element binding protein-like 1;cAMP-dependent transcription factor ATF-6 beta;cAMP-responsive element-binding protein-like 1;cyclic AMP-dependent transcription factor ATF-6 beta APPROVED protein-coding ENSG00000213676 HGNC:2349 02992 600984 REVIEWED 1312669 ATF7 activating transcription factor 7 ENCODES a protein that exhibits enzyme binding; mitogen-activated protein kinase binding; transcription factor binding; INVOLVED IN regulation of transcription, DNA-templated; FOUND IN nuclear periphery; INTERACTS WITH trichostatin A; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 q13 53556201 53670237 - 53901640 54020200 - 53507856 53626415 - 1580863;6480464 10376527;10698518;11278933;11566021;12477932;12805554;14643450;15342556;15735663;15867431;16147992;16344560;1694576;17081983;17264123;18029348;18671972;18950637;19471022;20189936;20195357;21693764;21858082;21890473;21998595;22242598;22939629;23000965;23426901;23793025;7769693;8288576;8649858;8889548;8939888 11016 F8VWG7;K7EKZ7;K7ESA4;P17544 AA679547;ABBA01008343;ABBA01008344;ABBA01008345;ABBA01008346;ABBA01008347;ABBA01008348;ABBA01008349;AC023509;AC073594;AK298853;AK302907;AK310355;AK313507;AMYH02026525;AMYH02026526;AMYH02026527;BC032433;BC042363;BC136302;BC140006;BP279417;BP312300;BQ184780;CH471054;DB047160;DB490927;NM_001130060;NM_001206682;NM_001206683;NM_006856;NR_073163;X52943;X57197;XM_005268587;XM_006719202;XM_006719203 AAH42363;AAI36303;AAI40007;BAG36287;BAG60976;BAG64077;CAA37118;CAA40483;EAW96723;EAW96724;NP_001123532;NP_001193611;NP_001193612;NP_006847;P17544;XP_005268644;XP_006719265;XP_006719266 Hs.12286;Hs.633602 1649597;1663627;1698130;1733546;1733552;1768539;1770269;1852420;2107793;2110161;2127255 D12S884;D12S887;MARC_34356-34357:1062684397:1;RH102598;RH18103;RH44962;SHGC-57261;STS-R37637;STS-R96214;WI-8969;st305c11-8a10 ATFA;MGC57182 OTTHUMP00000242069;OTTHUMP00000242319;cAMP-dependent transcription factor ATF-7;cyclic AMP-dependent transcription factor ATF-7;transcription factor ATF-A protein-coding ENSG00000170653 HGNC:792 06968 606371 VALIDATED 1313517 ATF6 activating transcription factor 6 This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011] 1 1 1 q22-q23 134839502 135032269 + 161736034 161933860 + 161766244 161964070 + 1580863;6480464;6907045;8554872 10564271;10866666;11158310;11163209;11256944;11287625;11483355;11805088;11821395;11909875;12014989;12076252;12097557;12477932;12713871;12782636;12805554;12949534;14699159;14765107;15063770;15299016;15342556;15489334;15598891;15899857;16196087;16469704;16505252;16710414;17092596;17101776;17327457;17440018;17442311;17522056;17686766;18022401;18635891;18650380;18840095;19122331;19304306;19420237;19667116;19693772;19722195;19723703;19772629;19816510;19822759;19913121;20160352;20219975;20628086;20732420;20800603;20936779;21106748;21131360;21150130;21211013;21329801;21329806;21345978;21355074;21385877;21454619;21521793;21693764;21809331;21832049;21841196;21906983;21963094;21976666;21988832;22013072;22099811;22102412;22146569;22268729;22354938;22577136;22872700;22917505;22956602;23011799;23037953;23382691;23661758;23864652;23924739;24043630;24177270;24240056;24269637;24302549;24636989;24664756;24726443;2516827;8889548;9271374;9837962 22926 A8K383;P18850 AB015856;AB208929;ABBA01047311;ABBA01047312;ABBA01047313;AC243424;AC244129;AF005887;AF088035;AK025316;AK290498;AL359541;AL391825;AL450995;BC014969;BC071997;BM683233;BP380917;BX538263;CH471067;NG_029773;NM_007348;XM_006711224;XM_006711225 AAB64434;AAH14969;AAH71997;AAI66676;BAA34722;BAD92166;BAF83187;EAW90694;NP_031374;P18850;XP_006711287;XP_006711288 Hs.492740;Hs.617868 1653170;1675249;1693110;1770481;1771808;1992856;2116438;2122251;2151408;2176322;5014051;5015619;5021872;5022200;5037552;5109281 AL034282;D11S3114;D1S1425;D8S2278;D8S2279;G16275;L18426;REN67335;RH68768;RH69585;RH69812;RH78635;SHGC-32839;STS-H29771;WI-13539;sY3084 ATF6A;DKFZp686P2194;FLJ21663 ATF6-alpha;OTTHUMP00000025585;activating transcription factor 6 alpha;cAMP-dependent transcription factor ATF-6 alpha;cyclic AMP-dependent transcription factor ATF-6 alpha APPROVED protein-coding ENSG00000118217 HGNC:791 16118 605537 REVIEWED 1314412 ATF7IP activating transcription factor 7 interacting protein ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010] 12 12 12 p13.1 19663702 19796793 + 14518566 14655864 + 14365632 14502935 + 6480464;8554872 10777215;10976766;12477932;12659632;12665582;12812986;14536086;14702039;15231748;15489334;15691849;16314315;16344560;16757475;17081983;18029348;18842587;19106100;19394292;19471022;20543847;20549333;20936779;21139048;21693764;21890473;21906983;21963094;21987572;21988832;22939629;23000965;23359319;23666240;23935871;24143190;24250222;24464130;24816145 55729 A8MV73;B3KNI7;B3KQF8;F5GYR7;F5GZ10;F5GZ98;F5H1K9;F5H221;F5H2H9;F5H2W9;F5H3C4;F5H502;F5H592;F5H6X8;F5H8I0;F8WE35;H0YFA3;Q6VMQ6 ABBA01067875;ABBA01067876;ABBA01067877;AC007782;AC008114;AC124892;AF425650;AJ242978;AK001001;AK001550;AK025060;AK027575;AK074868;AK125103;AK299320;AK304184;AMYH02026092;AY337596;BC037312;BC053625;BC063855;BX648096;CH471094;DA194386;DC377662;NM_001286514;NM_001286515;NM_018179;NM_181352;XM_005253424;XM_006719108;XM_006719109 AAH37312;AAH63855;AAO91864;AAQ92978;BAA91751;BAG51349;BAG52020;BAG61328;BAG65064;CAB45135;EAW96314;EAW96315;EAW96316;EAW96317;EAW96318;EAW96319;EAW96320;NP_001273443;NP_001273444;NP_060649;NP_851997;Q6VMQ6;XP_005253481;XP_006719171;XP_006719172 Hs.504856;Hs.591151 1644517;1645822;1646356;1655348;1680978;1700440;1725997;1725999;1726051;2217042;5016478 1552;ATF7IP_3606;G41306;G62274;G62275;G62288;GDB:434012;RH103841;RH93222;WI-17556;WI-17987 AM;ATF-IP;FLJ10139;FLJ10688;MCAF;MCAF1;hAM;p621 ATF-interacting protein;ATF7-interacting protein;ATFa-associated modulator;MBD1-containing chromatin associated factor;MBD1-containing chromatin-associated factor 1;OTTHUMP00000239135;OTTHUMP00000239136;OTTHUMP00000239143;OTTHUMP00000239647;activating transcription factor 7-interacting protein 1 APPROVED protein-coding ENSG00000171681 HGNC:20092 09811 613644 VALIDATED 6481023 ATG10-IT1 ATG10 intronic transcript 1 (non-protein coding) q14.1 100874311 AC114969 ncrna HGNC:41455 6481370 ATG10-AS1 ATG10 antisense RNA 1 q14.1 10737800 100874022 AC114969;BE061092 APPROVED ncrna HGNC:40914 1314578 ATF7IP2 activating transcription factor 7 interacting protein 2 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH ciglitazone; copper(2+) sulfate; paracetamol 16 16 16 p13.13 10690093 10744829 + 10479912 10577495 + 10386055 10483638 + 6480464;8554872 12477932;14702039;15489334;15691849;18029348;20195266;8125298 80063 B4DKH3;F5GY73;H3BNE6;H3BPC9;H3BR07;H3BUP1;I3L4M8;Q5U623 ABBA01006791;ABBA01006792;ABBA01006793;AC131649;AK022730;AK093414;AK223492;AK296565;AK299040;AL832987;AMYH02031445;AMYH02031446;AMYH02031447;AY560615;BC033891;BC069695;BC069713;BC069730;BC137079;BC144468;BI459223;CH471112;KF456162;NM_001256160;NM_024997;NR_045815;NR_045816;XM_006720953;XM_006720954 AAH33891;AAH69695;AAH69713;AAH69730;AAI37080;AAT66299;BAB14209;BAC04157;BAD97212;BAG59185;BAG61114;CAH56323;EAW85183;EAW85184;NP_001243089;NP_079273;Q5U623;XP_006721016;XP_006721017 Hs.513343;Hs.742019 1338142;1696380;2154482;2157827;2184105;2184474;5109362 D16S3215;D16S446;D17S1239;RH68741;SGC34713;SHGC-60831;SHGC-77832 FLJ12668;MCAF2 ATF7-interacting protein 2;MBD1-containing chromatin associated factor 2;MBD1-containing chromatin-associated factor 2;OTTHUMP00000160167;OTTHUMP00000160168;activating transcription factor 7-interacting protein 2 protein-coding ENSG00000166669 HGNC:20397 16517 613645 VALIDATED 1602213 ATG101 autophagy related 101 ENCODES a protein that exhibits identical protein binding; protein complex binding; INVOLVED IN autophagic vacuole assembly; FOUND IN pre-autophagosomal structure; INTERACTS WITH copper(2+) sulfate; cyclosporin A; diazinon 12 12 12 q13.13 51266432 51273953 + 52463758 52471279 + 52069974 52077495 + 6480464 12477932;14702039;15342556;16712791;19287211;19597335;20562859;21139048;21900206;21906983;21963094;21988832;23000965;23640897;24100292 60673 F8VQD9;F8VVA0;H3BMZ4;Q9BSB4 ABBA01031626;AC025259;AF218031;AK021835;AMYH02026499;BC005151;BC009937;BP309508;CB137838;CH471111;NM_001098673;NM_021934 AAG17273;AAH05151;AAH09937;BAB13907;EAW58229;EAW58230;NP_001092143;NP_068753;Q9BSB4 Hs.9911 2134075;2168807 D12S1180E;D12S2008 C12orf44;FLJ11773 Atg13-interacting protein;OTTHUMP00000241687;OTTHUMP00000241688;OTTHUMP00000241689;autophagy-related protein 101 APPROVED protein-coding ENSG00000123395 HGNC:25679 08566 615089 VALIDATED 1351458 ATG10 autophagy related 10 Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008] 5 5 5 q14.1 77171858 77456206 + 81267844 81551958 + 81972025 82256139 + 1580863;1643329;4889529;6480464;8554872 15325588;20034776 11076863;11230166;11256614;12477932;12482611;12890687;14702039;15489334;15489336;15498874;15657430;16381901;16963840;17256008;17353931;20379614;20562859;23285162;23850577;24250222;2890687;8125298 83734 D6RBD1;D6RC89;D6RDX3;Q9H0Y0 ABBA01062064;ABBA01062065;ABBA01062066;ABBA01062067;ABBA01062068;ABBA01062069;ABBA01062070;AC010598;AC106824;AC114969;AF318326;AI436652;AK024016;AK225969;AK315752;AL136912;AMYH02011692;AMYH02011693;AMYH02011694;AMYH02011695;BC004551;BC027718;BC029268;CH471084;NM_001131028;NM_031482;XM_005248610;XM_005248611;XM_005248612 AAH29268;AAL55833;ABM83358;ABM86570;BAB14778;BAG38106;CAB66846;CAL38733;EAW95881;EAW95882;EAW95883;EAW95884;EAW95885;EAW95886;NP_001124500;NP_113670;Q9H0Y0;XP_005248667;XP_005248668;XP_005248669 Hs.713698 1338292;1695588;1731291;2116239;5017433;5020635 D5S2029;D5S253;D5S806;D7S3207;SHGC-68947;STS-T76997 APG10;APG10L;DKFZp586I0418;FLJ13954;pp12616 APG10 autophagy 10-like;APG10-like;ATG10 autophagy related 10 homolog;OTTHUMP00000147582;OTTHUMP00000222340;apg10 autophagy 10-like (s. cerevisiae);autophagy-related protein 10;ubiquitin-like-conjugating enzyme ATG10 APPROVED protein-coding ENSG00000152348 HGNC:20315 16497 610800 VALIDATED 1314851 ATG12 autophagy related 12 Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008] 5 5 5 q21-q22 111112297 111125961 - 115163893 115177548 - 115828196 115841851 - 1580863;1643329;2301217;4889529;6480464;6907045 15325588;18059433;20034776 11096062;11825910;11890701;12207896;12477932;12482611;12665549;12890687;14702039;15146197;15342556;15489334;15778222;16189514;16344560;17353931;17457038;18187620;19124466;19197948;19901552;20417604;20562859;20723759;21139048;21241894;21832049;21906983;22152474;22170153;22342342;23202584;23307622;24186333;24727585;8889548;9490301;9852036 9140 C1IDX9;D6RB14;H0Y9W4;H0YA29;H7BYD7;O94817 AB002440;AB002449;AB017507;ABBA01069029;AC026449;AK098251;AK313320;AL161968;AMYH02012009;BC011033;BC012266;BM697565;BP335591;BX327373;CB995198;CH471086;CN400030;CR978239;DA005347;DB048378;DB530852;EU554057;NM_001277783;NM_004707;NR_033362;NR_033363;NR_073603 AAH11033;AAH12266;ACD74941;BAA36493;BAG36125;EAW48954;EAW48955;EAW48956;NP_001264712;NP_004698;O94817 Hs.264482 1657408;1675271;1686130;1690103;2119656;2174000;5015861;5016596;7185938 D10S16;GDB:631802;RH68562;RH79593;RH91208;STS-N35906;WI-14939;WI-15770 APG12;APG12L;FBR93;HAPG12 APG12 autophagy 12-like;APG12-like;ATG12 autophagy related 12 homolog;Apg12 (autophagy, yeast) homolog;OTTHUMP00000159129;apg12 autophagy 12-like (s. cerevisiae);autophagy-related protein 12;ubiquitin-like protein ATG12 APPROVED protein-coding ENSG00000145782 HGNC:588 08496 609608 VALIDATED 2293247 ATG12P1 autophagy related 12 pseudogene 1 17 17 17 q25.1 67646673 67647431 - 71063693 71064451 - 73067554 73068312 - 20723759 100151642 ABBA01028877;AC025198;AMYH02033955;NG_007656 1686130 RH91208 ATG12P APPROVED pseudo HGNC:21466 INFERRED 1312148 ATG14 autophagy related 14 INVOLVED IN autophagic vacuole assembly; endosome to lysosome transport; PARTICIPATES IN autophagy pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN autophagic vacuole; cytoplasm; extrinsic component of omegasome membrane; INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; bisphenol A; cobalt dichloride 14 14 14 q22.3 35882502 35927962 - 55833109 55878576 - 55366391 55411858 - 4889529;6480464;8554872 20034776 10048485;12477932;14702039;15489334;16751776;17081983;18843052;19050071;19270696;19322201;19460752;20562859;20711182;20713597;21241894;21906983;22314358;22797916;22797925;22992773;23197835;23262492;23878393;24337183;24980959;24980960 22863 Q6ZNE5 AA988343;ABBA01018207;AK131251;AK292810;AL049978;AL158801;AL356801;AMYH02029236;AMYH02029237;AMYH02029238;AMYH02029239;BC028015;BC109089;BC109090;BR000826;CH471061;HI573906;NM_014924 AAI09090;AAI09091;BAD18430;BAF85499;CBX47442;EAW80672;EAW80673;EAW80674;FAA00433;NP_055739;Q6ZNE5 Hs.414809 1647662;1698948;1774840;2149888;2166421;2166603;2166882;5014057;5022578;5024761;5093948;5096107 A009Z21;D1S1423;D1S3699;G33017;G35363;G35867;RH103043;RH36905;RH64855;RH68681;SHGC-33813;SHGC-52499 ATG14L;KIAA0831;MGC126291;MGC126292 ATG14 autophagy related 14 homolog;Barkor;Beclin 1-Interacting protein;autophagy-related protein 14-like protein;beclin 1-associated autophagy-related key regulator APPROVED protein-coding ENSG00000126775 HGNC:19962 13820 613515 VALIDATED 4888931 ATG12P2 autophagy related 12 pseudogene 2 2 2 2 217532130 217535532 - 223766382 223769777 - 222901664 222905059 - 9847074 100293948 ABBA01023806;AC013476;AMYH02005870;AMYH02005871;NG_016651 2144811 A008B44 APPROVED pseudo HGNC:38605 INFERRED 1602498 ATG13 autophagy related 13 ENCODES a protein that exhibits protein kinase binding; INVOLVED IN autophagic vacuole assembly; PARTICIPATES IN mTOR signaling pathway; autophagy pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN ULK1-ATG13-FIP200 complex; pre-autophagosomal structure (ortholog); INTERACTS WITH cyclosporin A; elemental selenium; selenium atom 11 11 11 p11.2 46786959 46844582 + 46638826 46697569 + 46617276 46676019 + 4889529;6480464;6484113;8554872 20034776 12107413;12477932;14702039;15489334;16196087;16344560;17204848;17207965;18936157;19211835;19225151;19258318;19287211;19597335;19690328;20562859;20694011;21460630;21475306;21832049;21900206;21976705;23043107;23262492;23524951;24100292;24290141;25040165;8125298;8619474;9110174;9734811 9776 A8K0S6;E9PPR2;H0YCL5;H0YDR0;H0YEM7;H0YF43;J3KRU6;J3KST9;J3QLH7;J3QQM8;J3QR16;J3QR83;J3QRL1;J9JIF6;O75143 AB014552;ABBA01060733;ABBA01060734;ABBA01060735;ABBA01060736;AC115088;AC127035;AF052175;AK000705;AK023867;AK223603;AK289641;AK293109;AK294110;AK296526;AK315925;AMYH02024709;AMYH02024710;AMYH02024711;BC001331;BC002378;BC006191;CD675643;CH471064;DA195671;NM_001142673;NM_001205119;NM_001205120;NM_001205121;NM_001205122;NM_014741;XM_005253262;XM_005253263;XM_005253265;XM_005253266;XM_005253268;XM_006718394;XM_006718395;XM_006718396 AAH01331;AAH02378;AAH06191;ACT64495;ACT64496;ADQ32740;BAA31627;BAB14707;BAD97323;BAF82330;BAF85798;BAG57445;BAG59157;BAH14296;EAW67985;EAW67986;EAW67987;EAW67988;EAW67989;EAW67990;EAW67991;NP_001136145;NP_001192048;NP_001192049;NP_001192050;NP_001192051;NP_055556;O75143;XP_005253319;XP_005253320;XP_005253322;XP_005253323;XP_005253325;XP_006718457;XP_006718458;XP_006718459 Hs.127403 1737711;2123023;2161887;2163649 D11S2311E;D11S3306;RH15977;T16117 FLJ20698;KIAA0652;PARATARG8 ATG13 autophagy related 13 homolog;OTTHUMP00000233321;OTTHUMP00000233322;OTTHUMP00000233323;OTTHUMP00000233324;OTTHUMP00000233325;OTTHUMP00000233326;autophagy-related protein 13 APPROVED protein-coding ENSG00000175224 HGNC:29091 13809 615088 VALIDATED 1606757 ATG16L2 autophagy related 16-like 2 (S. cerevisiae) INVOLVED IN autophagy (inferred); negative stranded viral RNA replication (inferred); protein transport (inferred); PARTICIPATES IN autophagy pathway; FOUND IN nucleus; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 11 11 11 q13.4 69829970 69845200 + 72525451 72553793 + 72814406 72842676 + 1643329;4889529;6480464 15325588;20034776 11214971;12477932;14702039;18187620;21900206;23266558;23439083;23563314;23850713 89849 F5GWM4;F5GWZ9;F5H7B6;H0YF72;H0YFC3;H0YFG0;H0YFZ7;H0YG45;H0YG67;H0YGE3;H0YGJ8;Q8NAA4;Q9H7Q5 ABBA01017531;AK024423;AK090597;AK091151;AK093017;AK303270;AL832974;AMYH02025080;AP002381;BC036713;BC069189;BC108672;BC137489;BC137490;BC142718;BC146660;BQ929430;CH471076;NM_033388;XM_005274376;XM_005274378;XM_006718732;XM_006718733;XM_006718734;XR_428929 AAH36713;AAI08673;AAI37490;AAI37491;AAI42719;AAI46661;BAB15713;BAC03485;BAC04021;BAG64352;CAH56355;EAW74874;EAW74875;EAW74876;EAW74877;EAW74878;EAW74879;NP_203746;Q8NAA4;XP_005274433;XP_005274435;XP_006718795;XP_006718796;XP_006718797 Hs.653186 2136130;2182016;5091717 G30987;RH45037;SGC32787 ATG16B;FLJ00012;WDR80 APG16-like 2;ATG16 autophagy related 16-like 2;OTTHUMP00000237478;OTTHUMP00000237485;OTTHUMP00000237486;OTTHUMP00000237487;WD repeat-containing protein 80;autophagy-related protein 16-2 APPROVED protein-coding ENSG00000168010 HGNC:25464 10959 VALIDATED 2289735 ATG3P1 autophagy related 3 pseudogene 1 20 20 20 q12 34668259 34669404 - 37957498 37958643 - 39328855 39330000 - 100135756 ABBA01052540;AL121588;AMYH02037069;AY392024;NG_007378 AGP3;ATG3P;dJ54G6.1 APPROVED pseudo HGNC:31123 INFERRED 1353416 ATG3 autophagy related 3 This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 3 3 3 q13.2 110660041 110689158 - 112251354 112280810 - 112532507 112561963 - 737633;1580863;1643237;1643329;4889529;6480464;6907045 12477932;15325588;17110912;20034776 11825910;14702039;15144186;15355958;15489334;15592455;16303767;16704426;17353931;19342671;19838173;19932681;20061800;20562859;20697744;20723759;21139048;21906983;22053931;22505724;22644571;22863883;23119048;23824909;23829686;24023838;24186333;24191030;24654937;24747438;24816145 64422 C9JNW8;F8WDI0;Q9NT62 AA448974;AB079384;ABBA01061663;AC092692;AF202092;AK025778;AK307432;AK308919;AL137515;AMYH02007442;AW408464;BC002830;BC024221;BC043267;CH471052;DC311625;NM_001278712;NM_022488 AAG35611;AAH02830;AAH24221;ABM84350;ABM87773;BAB15237;BAB90843;CAB70781;EAW79668;EAW79669;EAW79670;EAW79671;NP_001265641;NP_071933;Q9NT62 Hs.477126 1660425;1715573;2119998;2165768;2165770 A006E19;G20743;GDB:372310;RH120928;WI-22015 APG3;APG3-LIKE;APG3L;DKFZp564M1178;FLJ22125;MGC15201;PC3-96;hApg3 2610016C12Rik;APG3 autophagy 3-like;ATG3 autophagy related 3 homolog;OTTHUMP00000214547;OTTHUMP00000214548;apg3 autophagy 3-like (s. cerevisiae);autophagy Apg3p/Aut1p-like;autophagy-related protein 3;ubiquitin-like-conjugating enzyme ATG3 APPROVED protein-coding ENSG00000144848 HGNC:20962 10654 609606 REVIEWED 1321647 ATG16L1 autophagy related 16-like 1 (S. cerevisiae) The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010] 2 2 2 q37.1 227881745 227925836 + 234160217 234204320 + 233251571 233295674 + 1643329;4889529;6480464;7240710 15325588;20034776 11181995;12477932;12665549;12975309;14702039;14743216;15489334;15620219;16344560;17200669;17353931;17435756;17455206;17484864;17534574;17554300;17625155;17894849;17921695;18047540;18088053;18162085;18166373;18200510;18338763;18366306;18438406;18448665;18495612;18499543;18521914;18521924;18587394;18671817;18698678;18715515;18824555;18849966;18852889;18985712;19120485;19139628;19174780;19235913;19262523;19269148;19276991;19322201;19334001;19337756;19422935;19491842;19575361;19590455;19659808;19683022;19760754;19783656;19898471;20014019;20024904;20066736;20082483;20222171;20380008;20395867;20417604;20485703;20562859;20570966;20637199;20639872;20697744;20722066;20839241;20846217;20875485;20886065;20962850;21072187;21102463;21206965;21406388;21513755;21618365;21674723;21734790;21832049;21879234;21890473;21987459;22275320;22302078;22342342;22346247;22370477;22412388;22573572;22863883;22885761;22936669;23128233;23202584;23262492;23300079;23376921;23434281;23439083;23512522;23633462;23850724;23964099;24022642;24036151;24076061;24086718;24100292;24238340;24413169;24553140;24563254;24816145;25027693 55054 C9J1B2;C9J8C6;C9JAY7;C9JK97;E7EVC7;F8WAF9;Q17RG0;Q53SV2;Q676U5 AA809053;ABBA01001947;AC013726;AK000897;AK001690;AK024453;AK026330;AK027854;AK074434;AK123876;AK308400;AL834526;AMYH02006003;AY358182;AY398617;BC000061;BC006253;BC013411;BC071846;BC117337;BC143900;BG702756;CH471063;DB084962;DB474638;EF079889;EF079890;EF560734;JQ924062;NG_023038;NM_001190266;NM_001190267;NM_017974;NM_030803;NM_198890;XM_005246082;XM_005246084;XM_005246086;XM_006712608;XR_241242 AAH71846;AAI17338;AAI43901;AAQ88549;AAR32130;AAY14860;ABN48554;ABN48555;ABQ59044;AGC52704;BAA91413;BAB15448;BAB15743;BAB55412;BAB85082;BAC85713;CAD39182;EAW71033;EAW71034;EAW71035;EAW71036;EAW71037;EAW71038;EAW71039;EAW71040;NP_001177195;NP_001177196;NP_060444;NP_110430;NP_942593;Q676U5;XP_005246139;XP_005246141;XP_005246143;XP_006712671 Hs.529322 2109049;2111340;2114299;2165384;7184972 APG16L_9868;D2S1507E;WI-11277;WI-12735 APG16L;ATG16A;ATG16L;FLJ00045;FLJ10035;FLJ10828;FLJ22677;IBD10;WDR30 APG16L beta;ATG16 autophagy related 16-like 1;OTTHUMP00000164391;OTTHUMP00000164393;OTTHUMP00000165876;OTTHUMP00000165877;WD repeat domain 30;apg16 autophagy 16-like (s. cerevisiae);autophagy-related protein 16-1 APPROVED protein-coding ENSG00000085978 HGNC:21498 16498 610767;611081 REVIEWED 1348604 ATG4D autophagy related 4D, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 19 19 19 p13.2 10549363 10558810 + 10654570 10664099 + 10543894 10553423 + 1580863;1643329;6480464;6907045 15325588 12446702;12477932;14702039;15489334;17207965;19549685;21906983;22441018;23508006;8125298;8889548 84971 B4DGM8;K7EJA5;K7EKP6;K7EMB9;K7EN30;K7EP43;K7EPJ0;K7EQ67;K7EQN3;K7ERK1;K7ESM7;Q86TL0 ABBA01029914;ABBA01029915;AC011461;AJ312332;AK056210;AK223383;AK294676;AK314712;AK316454;AMYH02035498;BC007639;BC016845;BC068992;BM671285;CH471106;HY063028;NM_001281504;NM_032885;NR_104024;NR_104025;XM_006722927 AAH07639;AAH16845;AAH68992;ADQ32084;ADZ15779;BAB71121;BAD97103;BAG57839;BAH14825;CAC85951;EAW84116;EAW84117;EAW84118;EAW84119;NP_001268433;NP_116274;Q86TL0;XP_006722990 Hs.512799 1676344 RH94334 APG4-D;APG4D;AUTL4 APG4 autophagy 4 homolog D;ATG4 autophagy related 4 homolog D;AUT-like 4 cysteine endopeptidase;AUT-like 4, cysteine endopeptidase;apg4 autophagy 4 homolog d (s. cerevisiae);autophagin-4;autophagy-related cysteine endopeptidase 4;autophagy-related protein 4 homolog D;cysteine protease ATG4D;cysteine protease involved in autophagy APPROVED protein-coding ENSG00000130734 HGNC:20789 07005 611340 REVIEWED 1604391 ATG2A autophagy related 2A INVOLVED IN autophagy (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN lipid particle (inferred); INTERACTS WITH quercetin; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q13.1 61988071 62010793 - 64662004 64684722 - 64894532 64917250 - 6480464;8554872 12477932;19615732;20379614;20562859;21887408;22219374;24250222;9253601;9455477 23130 H7C3T2;Q2TAZ0 AB007864;ABBA01024139;AI638563;AK126181;AK300925;AK307684;AMYH02024946;AP001187;BC008593;BC027481;BC033850;BC053596;BC110650;BC113090;BC113091;CH471076;NM_015104;XM_005273849;XM_005273850 AAH08593;AAH27481;AAH53596;AAI10651;AAI13091;AAI13092;BAA23700;BAC86477;BAG62557;EAW74323;NP_055919;Q2TAZ0;XP_005273906;XP_005273907 Hs.370671 1770123;1799092;1799894;1801010;1801558;1802104;1802216;1802278;1802892;1803546;1803690;1806616;1806672;1812146;1816734;1817786;1818720;1818780;1828942;1829670;1833570;1837286;1840192;1841540;1843784;1972016;1972018;1972020;1972022;1972024;1972026;1972028;1972030;1972032;1972034;1972036;1972038;1972040;1972042;1972044;1972046;1972048;1972050;1972052;1972054;1972056;1972058;1972060;1972062;1972064;1972066;1972068;1972070;1972072;1972074;1972076;1972078;1972080;1972082;1972084;1972086;1972088;1972090;1972092;1972094;1972096;1972098;1972100;1972102;1972104;1972106;1972108;1972110;1972112;1972114;1972116;1972118;1972120;1972122;1972124;1972126;1972128;1972130;1972132;1972134;1972136;1972138;1972140;1972142;1972144;1972146;1972148;1972150;1972152;1972154;1972156;1972158;1972160;1972162;1972164;1972166;1972168;1972170;1972172;1972174;1972176;1972178;1972180;1972182;1972184;1972186;1972188;1972190;1972192;1972194;1972196;1972198;1972200;1972202;1972204;1972206;1972208;1972210;1972212;1972214;2136970;5014577;5015619;5015810;5015961;5037552;7187403 D11S3114;D11S4940;D15S1477;D8S2279;ECD00392;ECD00801;ECD01371;ECD01657;ECD01934;ECD01991;ECD02023;ECD02335;ECD02674;ECD02751;ECD04265;ECD04293;ECD07078;ECD09411;ECD09947;ECD10424;ECD10454;ECD15598;ECD15967;ECD17928;ECD19810;ECD21280;ECD21967;ECD23103;G33103;GDB:182516;REN56893;REN56894;REN56895;REN56896;REN56897;REN56898;REN56899;REN56900;REN56901;REN56902;REN56903;REN56904;REN56905;REN56906;REN56907;REN56908;REN56909;REN56910;REN56911;REN56912;REN56913;REN56914;REN56915;REN56916;REN56917;REN56918;REN56919;REN56920;REN56921;REN56922;REN56923;REN56924;REN56925;REN56926;REN56927;REN56928;REN56929;REN56930;REN56931;REN56932;REN56933;REN56934;REN56935;REN56936;REN56937;REN56938;REN56939;REN56940;REN56941;REN56942;REN56943;REN56944;REN56945;REN56946;REN56947;REN56948;REN56949;REN56950;REN56951;REN56952;REN56953;REN56954;REN56955;REN56956;REN56957;REN56958;REN56959;REN56960;REN56961;REN56962;REN56963;REN56964;REN56965;REN56966;REN56967;REN56968;REN56969;REN56970;REN56971;REN56972;REN56973;REN56974;REN56975;REN56976;REN56977;REN56978;REN56979;REN56980;REN56981;REN56982;REN56983;REN56984;REN56985;REN56986;REN56987;REN56988;REN56989;REN56990;REN56991;REN56992;RH65343 KIAA0404;MGC117153 ATG2 autophagy related 2 homolog A;OTTHUMP00000069743;OTTHUMP00000069745;autophagy-related protein 2 homolog A APPROVED protein-coding ENSG00000110046 HGNC:29028 17186 VALIDATED 1604759 ATG4A autophagy related 4A, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2008] X X X q22.1-q22.3 107806406 107869363 + 107334899 107397901 + 108091669 108154671 + 1643329;6480464;6907045 15325588 12446702;12473658;12477932;14702039;15169837;15489334;15772651;17207965;17347651;20010802;20819778;21122541;21177865;21297227;23508006;24100292 115201 F8W7J2;G5E979;H7BYM2;Q8WYN0 AA648264;AB066214;ABBA01035973;ABBA01035974;ABBA01035975;ABBA01035976;ABBA01035977;ABBA01035978;ABBA01035979;ABBA01035980;AJ320508;AJ320509;AJ504651;AK054927;AK123287;AK293533;AK314429;AL031177;AMYH02040220;BC041862;BC061696;BM541631;CH471120;NM_052936;NM_178270;XM_005262064 AAH41862;AAH61696;ADQ32188;BAB83889;BAG37044;BAG57015;CAC69076;CAC69077;CAD43218;EAX02689;EAX02690;EAX02691;EAX02692;EAX02693;EAX02694;EAX02695;EAX02696;NP_443168;NP_840054;Q8WYN0;XP_005262121 Hs.8763 1643970;1651343;1690780;1702098;1703868;1745811;1757433;1857382;1857384;2124310;2174117;2174119 A006H40;AL022448;DXS7743;DXS7882;DXS8284;G20822;GDB:642223;RH26790;RH36508;SHGC-144818;SHGC-79051;WI-18722 APG4A;AUTL2;hAPG4A APG4 autophagy 4 homolog A;ATG4 autophagy related 4 homolog A;AUT-like 2 cysteine endopeptidase;AUT-like 2, cysteine endopeptidase;OTTHUMP00000023821;OTTHUMP00000023822;OTTHUMP00000023825;autophagin 2;autophagin-2;autophagy-related cysteine endopeptidase 2;autophagy-related protein 4 homolog A;cysteine protease ATG4A APPROVED protein-coding ENSG00000101844 HGNC:16489 06455 300663 REVIEWED 1317140 ATG4C autophagy related 4C, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 61538646 61618912 + 63249777 63330941 + 62784106 62865270 + 1643329;6480464;6907045 15325588 12446702;12477932;14702039;15489334;16344560;17442669;18029348;18193044;20562859;20966902;21139048;22248718;23000965;8889548 84938 A6NGQ4;C9JC51;H7BZW5;Q96DT6 ABBA01074582;ABBA01074583;ABBA01074584;ABBA01074585;AC099794;AC103923;AC119425;AJ312234;AJ320169;AK027773;AMYH02001143;AMYH02001144;BC008395;BC018678;BC033024;BI518482;BM146035;BM720875;BQ777265;CH471059;DB183325;NM_032852;NM_178221;XM_005271288 AAH18678;AAH33024;ABM83408;ABM86619;BAB55356;CAC43939;CAC85556;EAX06579;EAX06580;NP_116241;NP_835739;Q96DT6;XP_005271345 Hs.7353 1338928;1653001 D1S2835;SHGC-31906 APG4-C;APG4C;AUTL1;AUTL3;FLJ14867 APG4 autophagy 4 homolog C;ATG4 autophagy related 4 homolog C;AUT-like 1, cysteine endopeptidase;AUT-like 3 cysteine endopeptidase;OTTHUMP00000010714;OTTHUMP00000010715;apg4 autophagy 4 homolog c (s. cerevisiae);autophagin-3;autophagy-related cysteine endopeptidase 3;autophagy-related protein 4 homolog C;cysteine protease ATG4C APPROVED protein-coding ENSG00000125703 HGNC:16040 07473 611339 REVIEWED 1320126 ATG4B autophagy related 4B, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 236248753 236285072 + 242576775 242613272 + 241637360 241673857 + 1643329;6480464;6907045 15325588 10231032;11076863;11230166;12446702;12477932;14702039;15169837;15187094;15355958;15489334;15489336;16169070;16183633;16325851;16381901;16704426;17081983;17353931;18387192;19322194;19615732;20010802;20562859;21139048;21177865;21900206;21906983;22674379;22939629;23508006;23535732;23824909;24023838;24755409;25027693 23192 B3KVU2;C9J1C1;C9J3C0;C9JIK8;C9JQ72;C9JVD5;F2Z2K8;H0Y2Y0;H7C2A6;Q9Y4P1 AB023160;AB066215;ABBA01006062;AC133528;AJ504652;AK027332;AK027462;AK027763;AK123425;AK125277;AK296818;AK298109;AK302963;AK316167;AL050288;AL080168;AL133638;AMYH02006115;AMYH02006116;BC000719;BX648007;CH471063;NM_013325;NM_178326;XM_005246992;XM_005246993;XM_005246995;XM_005246996;XM_006712371 AAH00719;AAY14919;ABM82795;BAA76787;BAB55042;BAB55127;BAB55353;BAB83890;BAC86110;BAG53904;BAG59391;BAG60394;BAG64112;BAH14538;CAB45756;CAD43219;CAH56198;CAL38626;EAW71278;EAW71279;EAW71280;EAW71281;NP_037457;NP_847896;Q9Y4P1;XP_005247049;XP_005247050;XP_005247052;XP_005247053;XP_006712434 Hs.283610 1677670;1779182;1856673;2135704;2184858;5126716 A008U23;D2S2042;RH35842;RH47370;SHGC-34535;WI-17974 APG4B;AUTL1;MGC1353;hAPG4B APG4 autophagy 4 homolog B;ATG4 autophagy related 4 homolog B;AUT-like 1 cysteine endopeptidase;OTTHUMP00000200147;OTTHUMP00000200148;OTTHUMP00000200150;apg4 autophagy 4 homolog b (s. cerevisiae);autophagin-1;autophagy-related cysteine endopeptidase 1;autophagy-related protein 4 homolog B;cysteine protease ATG4B APPROVED protein-coding ENSG00000168397 HGNC:20790 16499 611338 REVIEWED 1312572 ATG2B autophagy related 2B ASSOCIATED WITH Melanoma (inferred); FOUND IN lipid particle (inferred); INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; paracetamol 14 14 14 q32.2 76803312 76885404 - 96747595 96829678 - 96281258 96363341 - 6480464;8554872 12477932;12508121;14702039;15028280;15489334;19197948;20562859;22219374;22350415;23752268 55102 Q96BY7 ABBA01048595;AK001104;AK055200;AK123451;AK128275;AK302641;AL133095;AL355102;AL359240;AMYH02029802;AMYH02029803;BC015016;BC015851;BU101822;BU166120;BU167202;CH471061;NM_018036;XM_006720187 AAH15016;BAA91504;BAB70872;BAC87363;BAG63882;EAW81633;NP_060506;Q96BY7;XP_006720250 Hs.168241 1644343;1669230;1696256;1705618;1715661;1847157;1848777;2164197 A006S30;G09667;RH119276;RH47969;RH70020;SHGC-83311;SHGC-83632;WI-14378 C14orf103;FLJ10242 ATG2 autophagy related 2 homolog B;OTTHUMP00000195210;autophagy-related protein 2 homolog B APPROVED protein-coding ENSG00000066739 HGNC:20187 12626 VALIDATED 1353398 ATG5 autophagy related 5 INVOLVED IN autophagic vacuole assembly (ortholog); autophagy (ortholog); post-translational protein modification (ortholog); PARTICIPATES IN autophagy pathway; Retinoic acid-inducible gene (RIG) I-like receptor signaling pathway; Shigella infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN autophagic vacuole; membrane; axoneme (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 3-methyladenine; aflatoxin B1 6 6 6 q21 107253905 107395251 - 106632351 106773695 - 106184476 106325820 - 1580863;4889529;2301217;6480464;6907045;8554872 18059433;20034776 10702672;11096062;11266458;11349150;11725643;11825910;12207896;12417306;12477932;12482611;12665549;12703993;12890687;14574404;14702039;15292400;15342556;15489334;15778222;16341674;17207965;17353931;18296641;18353420;18448665;19066443;19124466;19148225;19194464;19197948;19322201;19375507;19783847;19838193;19881538;19901552;20038797;20190558;20379614;20417604;20529838;20562859;20580051;20639872;20697744;20962850;21068098;21139048;21241894;21622776;21655094;21664058;21722286;21795849;21906983;21976705;21995634;22040493;22052905;22170153;22342342;22536318;22863883;22993366;23075929;23202584;23235332;23242420;23262492;23273568;23317196;23322078;23384565;23429496;23486359;23740937;23945651;23997112;24027027;24186333;24205307;24250222;24269628;24324106;24390342;24727585;7796880;9563500;9852036 9474 A9UGY9;Q7Z3H3;Q9H1Y0 ABBA01026199;ABBA01026200;ABBA01026201;ABBA01026202;AF293841;AK001899;AK299577;AK315800;AL022067;AL133509;AL138917;AMYH02014238;BC002699;BC093011;BM831472;BP297166;BX537904;CH471051;CR749386;EU283338;EU283339;HY168998;JQ918353;JQ918354;JQ924061;NM_001286106;NM_001286107;NM_001286108;NM_001286111;NM_004849;NR_104402;NR_104403;Y11588 AAG44955;AAH02699;AAH93011;ABX79918;ADQ32477;AGC52701;AGC52702;AGC52703;BAG50990;BAH13072;CAA72327;CAD97890;CAH18236;EAW48414;EAW48415;EAW48416;EAW48417;EAW48418;NP_001273035;NP_001273036;NP_001273037;NP_001273040;NP_004840;Q9H1Y0 Hs.486063 1674504;1685261;2159055;2185577;2190575 EST6B12;RH78069;RH93335;STS-N94345;WI-20363 APG5;APG5-LIKE;APG5L;ASP;hAPG5 APG5 (autophagy 5, S. cerevisiae)-like;APG5 autophagy 5-like;ATG5 autophagy related 5 homolog;ATG5 autophagy related 5-like;OTTHUMP00000017823;OTTHUMP00000017824;OTTHUMP00000017825;apg5 autophagy 5-like (s. cerevisiae);apoptosis specific protein;apoptosis-specific protein;autophagy protein 5 APPROVED protein-coding ENSG00000057663 HGNC:589 16051 604261 VALIDATED 1312481 ATG7 autophagy related 7 This gene was identified based on homology to Pichia pastoris GSA7 and Saccharomyces cerevisiae APG7. In the yeast, the protein appears to be required for fusion of peroxisomal and vacuolar membranes. The protein shows homology to the ATP-binding and catalytic sites of the E1 ubiquitin activating enzymes. [provided by RefSeq, Jan 2009] 3 3 3 p25.3 11249448 11534544 + 11314010 11599139 + 11272324 11557665 + 1580863;1643329;1643198;4889529;6480464;6907045;8554872 15325588;17665967;20034776 10233149;11096062;11825910;11890701;12477932;12482611;12890687;15342556;15355958;15489334;16303743;16303767;16344560;16704426;18029348;18187620;18296641;18688877;19124466;19148225;19635843;19881538;20083906;20195357;20379614;20543840;20562859;20697744;21139048;21274862;21655094;21832049;21903422;21963094;22170151;22499945;22622204;22674379;22863883;22927446;23295909;23386620;23527187;23640897;23824909;23894380;24023838;24068947;24097068;24186333;24250222;24362031;25027693 10533 C9J415;C9JE55;C9JFF4;C9JGL2;C9JKA3;C9JNU2;F8WDY9;H7BZ92;H7C059;H7C2J8;H7C2R3;H7C369;O95352 ABBA01025217;ABBA01025218;ABBA01025219;ABBA01025220;ABBA01025221;ABBA01025222;ABBA01025223;ABBA01025224;ABBA01025225;AC020750;AC022001;AC026185;AC083855;AF094516;AK075221;AK298833;AK303694;AK314504;AL122075;AMYH02006269;AMYH02006270;AMYH02006271;AMYH02006272;AMYH02006273;AMYH02006274;AMYH02006275;AMYH02006276;BC000091;BP373819;CH471055;CQ783323;DA177126;KF570275;NM_001136031;NM_001144912;NM_006395;XM_005264803;XM_006712931;XM_006712932;XM_006712933;XM_006712934;XM_006712935;XM_006712936 AAC69630;AAH00091;BAG37104;BAG52088;BAG60963;BAG64682;CAB59250;CAF86536;EAW64093;EAW64094;EAW64095;EAW64096;EAW64097;NP_001129503;NP_001138384;NP_006386;O95352;XP_005264860;XP_006712994;XP_006712995;XP_006712996;XP_006712997;XP_006712998;XP_006712999 Hs.38032 1341208;1643618;1644359;1647119;1681432;1686640;1739041;1852170;2121541;2129515;2143351;2149615;2150805;2160093;2164110;2166629;2168432;7186145 D3S1263;D3S3123;D3S3137;D3S3242;D3S3319;D3S3429;D3S3454;D3S3828;D3S4030;RH15949;RH25345;RH98571;SHGC-35171;SHGC-57938;SHGC-76706;SHGC-76717;STS-H83694 APG7-LIKE;APG7L;DKFZp434N0735;GSA7;hAGP7 APG7 autophagy 7-like;ATG12-activating enzyme E1 ATG7;ATG7 autophagy related 7 homolog;OTTHUMP00000160157;OTTHUMP00000207591;OTTHUMP00000207592;apg7 autophagy 7-like (s. cerevisiae);autophagy-related protein 7;ubiquitin activating enzyme E1-like protein;ubiquitin-activating enzyme E1-like protein;ubiquitin-like modifier-activating enzyme ATG7 APPROVED protein-coding ENSG00000197548 HGNC:16935 12293 608760 VALIDATED 1352923 ATHS atherosclerosis susceptibility (lipoprotein associated) ASSOCIATED WITH Atherosclerosis (inferred) 7240710 1731344 470 HGNC:793 108725 1604792 ATHL1 ATH1, acid trehalase-like 1 (yeast) ENCODES a protein that exhibits catalytic activity (inferred); hydrolase activity, acting on glycosyl bonds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; testosterone enanthate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 p15.5 263762 270317 - 288480 297511 + 287826 295688 + 6480464;8554872 12477932;15146197;15342556;16341674;19834535;22990118 80162 B8ZZ60;E7EMA9;H0YCL6;H3BM00;Q32M88 ABBA01011168;ABBA01011169;AC136475;AI217945;AI919161;AK026288;AK074155;AK090428;AK296137;AL832932;AMYH02024128;AMYH02024129;BC048336;BC066641;BC109257;BC109258;BM842384;BP262327;CH471278;CN298034;HG503401;NM_025092;XM_006718330;XM_006718331;XM_006718332;XM_006718333;XM_006718334;XM_006718335;XM_006718336;XR_428853;XR_428854;XR_428855;XR_428856 AAI09258;AAI09259;BAB15431;BAB84981;BAC03409;BAG58879;CAH56316;EAW61223;EAW61224;EAW61225;EAW61226;EAW61227;EAW61228;EAW61229;EAW61230;EAW61231;EAW61232;NP_079368;Q32M88;XP_006718393;XP_006718394;XP_006718395;XP_006718396;XP_006718397;XP_006718398;XP_006718399 Hs.353181 2179196 SGC34144 FLJ22635;MGC129858;MGC129859;RP11-326C3.2 OTTHUMP00000203396;OTTHUMP00000203397;OTTHUMP00000203398;acid trehalase-like protein 1 protein-coding ENSG00000142102 HGNC:26210 07999 VALIDATED 731594 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009] 2 2 2 q35 209946316 209984125 + 216176679 216214496 + 215311956 215349773 + 1599355;1580863;70804;1300048;5135488;5144054;6480464;6907045;7240710;7242561;8699517;8554872 15114530;17408934;20005278;22332074;9332377 11096114;11948179;12477932;1286667;14756553;14966129;15457444;15489334;15677700;1574589;16009940;16344560;16447238;16947783;17009228;17181924;17353931;17410198;17439323;17530705;17617058;18781797;18845790;19016697;19056867;19161160;19193698;19858780;19902562;19913121;19936946;19946888;20029029;20628086;20634891;20639865;20877624;21139048;21319273;21890473;21906983;21963094;21987572;22053931;22180458;22505724;22586326;22863883;22939629;23000965;24654937;24816145;25015289;8567683;8867801;9378707;9598063 471 C9JLK0;F2Z3E8;F8WEF0;H7BZU3;H7C084;H7C1S2;P31939;V9HWH7 AA494525;AB062403;ABBA01062788;ABBA01062789;AC073284;AK290067;AK298142;AK313066;AMYH02005746;BC008879;CH471063;D82348;D89976;DA043224;DA074758;EU794654;NG_013002;NM_004044;U37436;XM_006712545 AAA97405;AAH08879;AAY24062;ABM84188;ABM87590;ACJ13708;BAA11559;BAA21762;BAB93490;BAF82756;BAG35895;BAG60418;EAW70523;EAW70524;EAW70525;EAW70526;EAW70527;EAW70528;EAW70529;NP_004035;P31939;XP_006712608 Hs.90280 1646417;1650423;2123342 RH11837;SGC31824;WI-10220 FLJ93545;HEL-S-70p;PURH 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp;5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase;AICAR;AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme;AICARFT;AICARFT/IMPCHASE;IMPCHASE;OTTHUMP00000163981;OTTHUMP00000206773;bifunctional purine biosynthesis protein PURH;epididymis secretory sperm binding protein Li 70p;phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase APPROVED protein-coding ENSG00000138363 HGNC:794 03434 601731;608688 REVIEWED 1352093 ATL1 atlastin GTPase 1 The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q22.1 30866848 30966813 + 50999800 51099786 + 50533082 50633068 + 1580863;6480464;7240710;8554872;8699517 11685207;12112092;12387898;12477932;12499504;12508121;12939451;14506257;14607301;14695538;15184642;15477516;15489334;15517445;15596607;15742100;16339213;16344560;16401858;16533974;16815977;17321752;17380240;17420921;17427918;17502470;17531128;18446315;18644145;18664244;19423133;19459885;19573020;19652243;19665976;19724895;19730024;19735987;19768483;19851296;20125193;20198315;20200447;20301682;20718791;20862796;20932283;21194679;21220294;21321493;21368113;21890473;21906983;21930898;21963094;22340599;22508509;23079343;23108492;23233086;23334294;23684613;23969831;24347629;7825576;8125298;8252041;8619474;9110174 51062 G3V321;G3V334;G3V4Y8;G3V5T4;H0YJ65;H0YJA7;Q53F53;Q8WXF7 ABBA01018139;ABBA01018140;ABBA01018141;ABBA01018142;AF131801;AF444143;AK223436;AK290185;AK312518;AL118556;AL606834;AL833591;AMYH02029169;AW674605;AY032844;BC010708;BG704589;BI601372;CH471078;CQ860306;CR457153;DA088230;DA397302;NG_009028;NM_001127713;NM_015915;NM_181598;R61338 AAD20047;AAH10708;AAK51160;AAL37898;BAD97156;BAF82874;CAG33434;CAH10392;CAH25961;EAW65705;EAW65706;EAW65707;EAW65708;EAW65709;NP_001121185;NP_056999;NP_853629;Q8WXF7 Hs.584905 1656847;1673492;1681298;1703856;1775032;2138956;2167117;5019907;5117012 G17830;G35761;G35806;G54794;HSC2BE052;RH98833;SHGC-79145;WI-16395;btcn28117 AD-FSP;FSP1;GBP-3;GBP3;HSN1D;SPG3;SPG3A;hGBP3 GTP-binding protein 3;OTTHUMP00000178981;OTTHUMP00000244698;atlastin-1;atlastin1;brain-specific GTP-binding protein;guanine nucleotide-binding protein 3;guanylate-binding protein 3;spastic paraplegia 3 protein A APPROVED protein-coding ENSG00000198513 HGNC:11231 05918 182600;606439;613708 REVIEWED 1312973 ATL2 atlastin GTPase 2 ENCODES a protein that exhibits identical protein binding; INVOLVED IN endoplasmic reticulum organization; Golgi organization; protein homooligomerization; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; integral component of membrane; membrane; INTERACTS WITH asbestos; atrazine; benzo[a]pyrene diol epoxide I 2 2 2 p22.3 38362844 38445253 - 38522027 38604432 - 38294885 38378173 - 737633;1580863;6480464;8554872 12477932 10508919;14702039;15517445;16344560;18270207;19665976;19946888;20360068;21139048;21890473;21906983;21963094;22065636;23000965;24816145;8125298 64225 B5MCN0;C9JC25;C9JQQ5;F8WBH0;F8WD17;F8WEN4;H7C3A2;Q8NHH9 ABBA01074991;ABBA01074992;ABBA01074993;ABBA01074994;ABBA01074995;ABBA01074996;ABBA01074997;AC016995;AF449187;AK026946;AK124434;AK225190;AK294049;AK294711;AK302621;AK303985;AK308894;AK316179;AMYH02003621;AMYH02003622;AMYH02003623;AMYH02003624;BC039050;BC053508;CH471053;DA643528;NM_001135673;NM_022374;NR_024191;XM_006712070;XM_006712071;XM_006712072 AAH53508;AAM97341;AAM97342;AAX88950;BAB15598;BAH11658;BAH11856;BAH13764;BAH14091;BAH14550;EAX00375;EAX00376;EAX00377;NP_001129145;NP_071769;Q8NHH9;XP_006712133;XP_006712134;XP_006712135 Hs.727652 1694696;1698872 G43537;RH103002 ARL3IP2;ARL6IP2;FLJ23293;aip-2 ADP-ribosylation factor-like 6 interacting protein 2;ADP-ribosylation factor-like protein 6-interacting protein 2;ADP-ribosylation-like factor 6 interacting protein 2;ARL-6-interacting protein 2;OTTHUMP00000128257;OTTHUMP00000128258;OTTHUMP00000201418;OTTHUMP00000201419;OTTHUMP00000201420;atlastin-2;atlastin2 protein-coding ENSG00000119787 HGNC:24047 10662 609368 VALIDATED 1353328 ATG9A autophagy related 9A INVOLVED IN autophagic vacuole assembly; PARTICIPATES IN autophagy pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN endosome; late endosome; membrane; INTERACTS WITH elemental selenium; ethanol; selenium atom 2 2 2 q35 213853809 213864068 - 220084102 220094387 - 219219380 219229688 - 1580863;1643198;4889529;6480464;8554872 17665967;20034776 11076863;11230166;12477932;14702039;15342556;15489334;15489336;15755735;16169070;16381901;16940348;17081983;19893488;19946888;20379614;20819778;21068542;21139048;21890473;21900206;21903422;21906983;21963094;21987572;22456507;24085552;24767251 79065 C9IYZ9;C9JD65;C9JDK4;C9JFV2;C9JKV7;C9JS65;C9JX27;C9JXG2;F2Z3I6;H7C152;H7C1G6;Q7Z3C6 ABBA01023846;ABBA01023847;AC068946;AK021732;AK025822;AK027448;AK056595;AK289755;AK302521;AK315553;AL833865;AMYH02005819;BC001098;BC001206;BC021202;BC065534;BK004018;BP284912;BX537984;BX538192;BX538198;CH471063;DC347583;NM_001077198;NM_024085;NR_104255 AAH01098;AAH21202;AAH65534;BAB13882;BAB15246;BAB55119;BAF82444;BAG51759;BAG63795;CAD38723;CAD97944;CAD98061;CAD98064;CAL38676;DAA05199;EAW70706;EAW70707;NP_001070666;NP_076990;Q7Z3C6 Hs.323363 1651365;1674240;1753657;1850441;2183384;2191041;5017593 A002Q44;ATG9A;D2S1807;MARC_13747-13748:1003852080:1;RH68357;SHGC-107518;WI-19704 APG9L1;MGD3208;mATG9 APG9 autophagy 9-like 1;APG9-like 1;ATG9 autophagy related 9 homolog A;OTTHUMP00000206046;OTTHUMP00000206048;OTTHUMP00000206049;OTTHUMP00000206062;apg9 autophagy 9-like 1 (s. cerevisiae);autophagy 9-like 1 protein;autophagy-related protein 9A APPROVED protein-coding ENSG00000198925 HGNC:22408 07979 612204 VALIDATED 1352218 ATG9B autophagy related 9B This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] 7 7 7 q36.1 145266630 145278919 - 150709297 150721586 - 151012209 151024499 - 1643198;4889529;6480464;8554872 17665967;20034776 12477932;14702039;15234981;15755735;17403686;19197948;19423521;19423540;19657746;19913121;19948975;20083107;20406964;20416077;20438785;20628086;22374993;22606351;22879892 285973 Q674R7 ABBA01035167;AC010973;AI221785;AI243432;AI827483;AK096734;AMYH02017067;AY316116;AY515311;BC128587;BK004019;NG_030317;NM_173681;NR_073169 AAI28588;AAQ86941;AAS87212;BAC04853;DAA05200;NP_775952;Q674R7 Hs.707300;Hs.716846 1682487;1848219;2156048;2177268 D7S2866;GDB:4585743;RH45385;RH99113 APG9L2;NOS3AS;SONE APG9-like 2;ATG9 autophagy related 9 homolog B;autophagy 9-like 2 protein;autophagy-related protein 9B;endothelial nitric oxide synthase antisense;nitric oxide synthase 3 antisense;nitric oxide synthase 3-overlapping antisense gene protein APPROVED protein-coding ENSG00000181652 HGNC:21899 08253 612205 REVIEWED 1603699 ATMIN ATM interactor ENCODES a protein that exhibits dynein binding; INVOLVED IN positive regulation of transcription, DNA-templated; FOUND IN nucleus; INTERACTS WITH cobalt dichloride; elemental selenium; methyl methanesulfonate 16 16 16 q23.2 65367853 65379348 + 81069458 81080955 + 81035853 81047350 + 6480464 12477932;15489334;15933716;17525732;18433721;18728389;18854154;19001856;19844255;20975950;21971545;22167198;25092319;8889548;9455477 23300 J3QRX7;O43313 AB007891;ABBA01016985;ABBA01016986;AC092718;AK025058;AK290943;AK301781;AK302556;AMYH02032504;BC002701;BI259534;BM693775;BX343387;BX375235;CF593326;CH471114;CR749457;NM_001300728;NM_015251;XM_005255866 AAH02701;BAA24861;BAF83632;BAH13552;BAH13741;CAH18291;EAW95549;EAW95550;EAW95551;EAW95552;NP_001287657;NP_056066;O43313;XP_005255923 Hs.16349;Hs.589959 1643608;1673006;1679435;1740197;2139892;5092332;5106381 D16S2944;D9S1775;G42176;RH65177;RH66612;RH70761;SGC32359 DKFZp779K1455;FLJ50270;FLJ61620;FLJ76795;KIAA0431;ZNF822 ASCIZ;ATM INteracting protein;ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein;ATM/ATR-substrate CHEK2-interacting zinc finger protein;ATM/ATR-substrate CHK2-interacting zinc finger protein;zinc finger protein 822 protein-coding ENSG00000166454 HGNC:29034 17188 614693 VALIDATED 1601766 ATL3 atlastin GTPase 3 This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014] 11 11 11 q13.1 60720452 60763095 - 63391554 63439533 - 63624082 63671969 - 6480464;8699517;7240710;8554872 10737800;12477932;14702039;18270207;19665976;19946888;21139048;21832049;21890473;21906983;21963094;21987572;22190034;22505724;23000965;24457600;24459106;24654937;24816145 25923 B4DXC4;F5GWF8;F5H6I7;Q6DD88 ABBA01003256;ABBA01003257;AK023383;AK090822;AK094227;AK097588;AK301910;AL117600;AMYH02024913;AMYH02024914;AMYH02024915;AP000753;BC077727;BE710391;BI829120;BX642720;BX648468;CH471076;CR936784;DB034045;DC394729;KF455400;NG_033985;NM_001290048;NM_015459;XM_005273891;XM_006718493;XM_006718494 AAH77727;BAB14552;BAC05111;BAG63336;CAB56010;EAW74161;EAW74162;EAW74163;NP_001276977;NP_056274;Q6DD88;XP_005273948;XP_006718556;XP_006718557 Hs.356719 2133625;2171887;2179937;5022200;5022578;5037552 A006Q18;D1S1423;D8S2279;G27556;L18426;RH12215 DKFZp564J0863;HSN1F OTTHUMP00000237071;OTTHUMP00000237072;atlastin 3;atlastin-3 protein-coding ENSG00000184743 HGNC:24526 13170 609369;615632 REVIEWED 1350083 ATOH8 atonal homolog 8 (Drosophila) ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN cell differentiation (inferred); nervous system development (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (R)-pantothenic acid; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 2 2 2 p11.2 85808992 85846589 + 85980909 86018506 + 85753786 85791383 + 737633;6480464 12477932 12419857;14702039;16344560;19913121;20628086;21857980;21988832;22354994;8889548 84913 Q96SQ7 ABBA01075767;ABBA01075768;ABBA01075769;ABBA01075770;AC012454;AC105053;AF529205;AK027614;AK074681;AK096049;AL831857;AMYH02004187;BC021207;BC094832;BM671127;BQ018438;CH471053;CQ783576;DA629171;NM_032827;XM_005264623;XM_006712121;XM_006712122;XM_006712123 AAH21207;AAH94832;AAO85773;BAB55233;BAC11135;CAF86744;CAH56263;EAW99481;EAW99482;NP_116216;Q96SQ7;XP_005264680;XP_006712184;XP_006712185;XP_006712186 Hs.135569 1340977;1700572;1759567;2140978 D2S2232;G31073;RH103908;SHGC-150973 FLJ14708;FLJ38730;HATH6;bHLHa21 OTTHUMP00000160681;atonal homolog 6;basic helix loop helix transcription factor 6;basic helix-loop-helix transcription factor 6;class A basic helix-loop-helix protein 21;helix-loop-helix protein hATH-6;protein atonal homolog 8 protein-coding HGNC:24126 09813 VALIDATED 1312698 ATOH7 atonal homolog 7 (Drosophila) This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011] 10 10 10 q21.3 63264910 63266384 - 69990352 69991870 - 68230595 68232113 - 1580863;6480464;7240710;8699517;8554872 11889557;12477932;12617822;14516699;16368877;20395239;20548946;21307088;21427129;21441919;21697133;22019371;22068589;22222511;22645276;23568457;23802135;24250222;24457358 220202 F1T0H4;Q8N100 AB593108;AB593109;ABBA01019557;AC016395;AF418922;AMYH02023250;BC032621;BK000277;BY797167;CH471083;H05728;NG_031934;NM_145178 AAH32621;AAL11911;ABM82115;ABM85298;BAJ84048;BAJ84049;DAA01057;EAW54269;NP_660161;Q8N100 Hs.175396;Hs.737072 1335257;1769696 D10S1418;D10S522 Math5;NCRNA;PHPVAR;RNANC;bHLHa13;hATH5 OTTHUMP00000019697;class A basic helix-loop-helix protein 13;helix-loop-helix protein hATH-5;protein atonal homolog 7 APPROVED protein-coding ENSG00000179774 HGNC:13907 09812 221900;609875 REVIEWED 1352790 ATN1 atrophin 1 Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Feb 2010] 12 12 12 p13.31 8652242 8670105 + 7033626 7051484 + 6924463 6942321 + 1358440;1580863;6480464;7240710;8699517;8554872 9184318 10085113;10332026;10737800;10814707;10973986;11121205;11781699;11807410;11843701;11984006;12464607;12477932;12812981;14645126;14756671;15148151;15223312;15302935;16091834;16169070;16407196;16481466;16534126;16713569;16858508;16967484;17081983;17503969;17577209;17965145;18182848;18651325;19039037;19235102;20196398;20301317;20301334;20301664;20339376;20467438;20589872;20696395;20811636;20977674;21749564;21827919;21890473;21988832;22083836;22315970;22342974;23263592;23933208;24550385;24981774;7485154;7647802;7842016;7951323;8136826;8136840;8325628;8723724;8786114;8852663;8965642;9074930;9361003;9535906;9647693;9845282;9949204 1822 P54259;Q86V38 ABBA01017668;ABBA01017669;AMYH02025957;AMYH02025958;AW411230;BC051795;BE142829;BQ448220;BQ880124;BQ897715;BQ957462;CH471116;D31840;D38529;D63808;NG_008047;NM_001007026;NM_001940;U23851;U47924 AAB50276;AAB51321;AAH51795;ABZ92035;BAA06626;BAA07534;BAA23631;EAW88706;EAW88707;EAW88708;NP_001007027;NP_001931;P54259 Hs.143766 1668496;1693756;1732307;1743205;1773574;1775539;1795774;1846582;2137943;2168225 AF021112;D12S1899;D12S755E;ENO2_37;G10506;G28537;GDB:303913;RH11235;SHGC-58828;STS-D31840 B37;D12S755E;DRPLA;HRS;NOD OTTHUMP00000239930;OTTHUMP00000239931;OTTHUMP00000239932;atrophin-1;dentatorubral-pallidoluysian atrophy (atrophin-1);dentatorubral-pallidoluysian atrophy protein APPROVED protein-coding ENSG00000111676 HGNC:3033 06311 125370;607462 REVIEWED 737338 ATOX1 antioxidant 1 copper chaperone This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008] 5 5 5 q32 147203796 147219624 - 151122383 151138210 - 151742822 151758649 - 1580863;6480464;8548474 23936210 10497213;10557326;10966647;10982193;12029094;12420134;12477932;12594858;12679332;12686548;12763797;12968035;14702039;14709553;15133031;15146197;15476398;15489334;15670166;15761197;16172131;16571664;16573520;17545667;17616150;17881304;17919502;18245776;18416466;18558714;18685091;18976975;19146392;19453293;21139048;21258123;21482801;21890473;21906983;22574136;22648419;22677543;23000965;23169585;23553875;23624903;23751120;23778981;24036897;9083055;9430722 475 E5RGN3;E5RIM7;O00244 ABBA01026261;ABBA01026262;AC011374;AC091982;AK091843;AK293063;AMYH02012472;AMYH02012473;AY165037;AY986502;BC112248;BC112250;BI599233;BT009786;BU172675;CH471062;CN280769;CR456901;NM_004045 AAI12249;AAI12251;AAN84554;AAP88788;AAX81411;ADR82784;BAF85752;CAG33182;EAW61663;EAW61664;NP_004036;O00244 Hs.125213 1660691;1697224;1780978;1792390;1792392;1792394;2140111;2179422 PMC150598P1;PMC150598P2;PMC150598P3;RH102104;RH16152;RH46133;WI-18405;bac5571S ATX1;HAH1;MGC138453;MGC138455 ATX1 antioxidant protein 1 homolog;OTTHUMP00000224114;OTTHUMP00000224178;atx1 (antioxidant protein 1) homolog 1 (yeast);copper transport protein ATOX1;metal transport protein ATX1 APPROVED protein-coding ENSG00000177556 HGNC:798 03779 602270 REVIEWED 1606040 ATM ATM serine/threonine kinase The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010] 11 11 11 q22-q23 105248510 105394764 + 108093559 108239829 + 108222832 108369102 + 1643349;1643350;1643351;2293870;2293869;2293868;2317367;2317363;2317234;2316155;2316156;1599367;1599366;6480464;6484113;6907045;7240710;8554872;8693659;8661225;8699517;8661232;1601249 10748873;11200774;11751435;11852039;14983937;15863839;16520463;16601750;16997395;17064299;17164260;18381943;18534819;19147782;19450511;21533982;23532176 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472 E9PIN0;E9PIQ5;E9PRG7;H0YDU7;H0YEC6;M0QXY8;Q13315 AB209133;ABBA01039868;AF035328;AK299843;AMYH02025546;AMYH02025547;AMYH02025548;AMYH02025549;AP001925;AP005718;AY220758;BC007023;BC022307;BC061584;BC137169;BC152385;BC152389;BT006764;CH471065;CR749436;HM437232;KF455499;NG_009830;NM_000051;U26455;U33841;U55757;U67092;U67093;U82828;X91196;XM_005271561;XM_005271562;XM_005271564;XM_006718843;XM_006718844;XM_006718845;Y08455 AAA86520;AAB38309;AAB38310;AAB65827;AAC50289;AAC51298;AAH61584;AAI37170;AAI52386;AAI52390;AAM09295;AAO26044;AAP35410;ADN43064;BAD92370;BAG61705;CAA62603;CAA69711;CAH18274;EAW67108;EAW67109;EAW67110;EAW67111;EAW67112;EAW67113;EAW67114;EAW67115;NP_000042;Q13315;XP_005271618;XP_005271619;XP_005271621;XP_006718906;XP_006718907;XP_006718908 Hs.367437 1652464;1697484;1710408;1712204;1724047;1734066;1737751;1789282;1789284;1789729;1789731;1789733;1789735;1789737;1789739;1789741;1789743;1789745;1789747;1789749;1789751;1789753;1789755;1789757;1789759;1789761;1789763;1789765;1789767;1789769;1789771;1789773;1789775;1789777;1789779;1789781;1789783;1789785;1789787;1789789;1789791;1789793;1789795;1789797;1789799;1789801;1789803;1792164;1797304;2185380;2185536;2185814;2190229;2190231;2190233;2190235;2190237;2190239;2190241;2190243;2190245;2190247;2190249;2190251;2190253;2190255;2190257;2190259;2190261;2190263;2190265;2190267;2190269;2190271;2190273;2190275;2190277;2190279;2190281;2190283;2190285;5015619;5015861;5015869;5015879;5015961;5016596;5020881;5020946;5022200;5022322;5022578;5022651;5024413;5037552;7185938 ATM_2409;ATM_EXON49;ATM_EXON63;ATM_exon1a;ATM_exon1b1;ATM_exon25;ATM_exon26;ATM_exon28;ATM_exon3;ATM_exon30;ATM_exon32;ATM_exon33;ATM_exon36;ATM_exon37;ATM_exon38;ATM_exon41;ATM_exon44;ATM_exon50;ATM_exon52;ATM_exon53;ATM_exon61;ATM_exon65F;ATM_exon65a;ATM_exon65b;ATM_exon65c;ATM_exon65e;ATM_exon65g;ATM_exons23and24;ATM_x9;D10S16;D11S2179;D11S2560;D11S2921;D11S3114;D11S3347;D15S1477;D1S1423;D8S2279;G54153;G67874;G67879;GDB:313261;GDB:314949;GDB:631802;L17709;L17877;L17971;L18426;PMC137935P1;PMC311160P1;RH102244;RH119034;RH17960;RH36405;SHGC-35479;SHGC-82486;STS-AA016254;csnpatm-pcr1-1;csnpatm-pcr10-1;csnpatm-pcr11-1;csnpatm-pcr15-1;csnpatm-pcr17-1;csnpatm-pcr18-1;csnpatm-pcr19-1;csnpatm-pcr20-1;csnpatm-pcr21-1;csnpatm-pcr22-1;csnpatm-pcr23-1;csnpatm-pcr24-1;csnpatm-pcr25-1;csnpatm-pcr27-1;csnpatm-pcr28-1;csnpatm-pcr29-1;csnpatm-pcr3-1;csnpatm-pcr30-1;csnpatm-pcr31-1;csnpatm-pcr33-1;csnpatm-pcr35-1;csnpatm-pcr38-1;csnpatm-pcr39-1;csnpatm-pcr4-1;csnpatm-pcr40-1;csnpatm-pcr42-1;csnpatm-pcr43-1;csnpatm-pcr45-1;csnpatm-pcr46-1;csnpatm-pcr47-1;csnpatm-pcr48-1;csnpatm-pcr50-1;csnpatm-pcr55-1;csnpatm-pcr56-1;csnpatm-pcr6-1;csnpatm-pcr64-1;csnpatm-pcr7-1;csnpatm-pcr8-1 AT1;ATA;ATC;ATD;ATDC;ATE;DKFZp781A0353;MGC74674;TEL1;TELO1 A-T mutated;AT mutated;OTTHUMP00000232981;TEL1, telomere maintenance 1, homolog;ataxia telangiectasia mutated;ataxia telangiectasia mutated (includes complementation groups A, C and D);human phosphatidylinositol 3-kinase homolog;serine-protein kinase ATM APPROVED protein-coding ENSG00000149311 HGNC:795 06347 114480;208900;607585 REVIEWED 1349240 ATOH1 atonal homolog 1 (Drosophila) This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008] 4 4 4 q22 92046181 92047245 + 94750078 94751142 + 93828927 93829991 + 1580863;6480464 11748221;11889557;12209986;12477932;14757642;15489334;16382053;16647036;16831200;17000673;17241872;17397818;17549667;17826772;18275842;19243219;19741118;19924642;20621629;21125297;22147253;22370966;22573682;22573692;22786753;22985730;23030416;23333391;23464457;23724999;24141260;24904172;8872459;9449674 474 Q6ISE7;Q92858 ABBA01063610;AC087413;AMYH02009752;BC069145;BC069578;BC069594;BC069604;BC113623;BC113625;CH471057;NM_005172;U61148 AAB41305;AAH69145;AAH69578;AAH69594;AAH69604;AAI13624;AAI13626;ABZ91994;ADR82945;EAX06046;NP_005163;Q92858 Hs.532680 1652028;1743337;1795404;2166547;5492929;5494051 ATOH1_309;GDB:314993;RH70687;SHGC-67257;UniSTS:480821;UniSTS:483276 ATH1;HATH1;MATH-1;bHLHa14 OTTHUMP00000161597;class A basic helix-loop-helix protein 14;helix-loop-helix protein hATH-1;protein atonal homolog 1 APPROVED protein-coding HGNC:797 03270 601461 REVIEWED 1314601 ATP10A ATPase, class V, type 10A The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 4086178 4270059 - 25923859 26110304 - 25678712 25865170 - 1580863;6480464;8554872 10482951;11015572;11326269;11353404;12105293;12477932;15071553;15489334;15919184;18186074;18726118;19086053;19851296;20198315;20379614;20609483;21209057;21901158;22610502;9628581 57194 G3V261;H0YJI4;O60312 AB011138;AB051358;ABBA01048696;ABBA01048697;ABBA01048698;ABBA01048699;ABBA01048700;AC016266;AC023449;AC109512;AMYH02030098;AMYH02030099;AMYH02030100;AMYH02030101;AMYH02030102;AY029487;AY029504;BC038712;BC052251;CH471151;NG_009282;NM_024490;XM_005268261;XM_006720619 AAH38712;AAH52251;AAK33100;ACE86498;ACE87179;BAA25492;BAB47392;EAW57647;EAW57648;EAW57649;EAW57650;NP_077816;O60312;XP_005268318;XP_006720682 Hs.659258 1342107;1704818;1709266;1762161;1769934;2149716 D15S986;SHGC-146053;SHGC-6183;SHGC-79879;SHGC-85824;STS-N35112 ATP10C;ATPVC;KIAA0566 ATPVA;ATPase type IV, phospholipid transporting (P-type);ATPase, Class V, type 10C;OTTHUMP00000246731;P4-ATPase flippase complex alpha subunit ATP10A;aminophospholipid translocase VA;phospholipid-transporting ATPase VA;probable phospholipid-transporting ATPase VA APPROVED protein-coding HGNC:13542 05790 605855 REVIEWED 6481163 ATP11A-AS1 ATP11A antisense RNA 1 13 13 q34 113399763 113409026 - 112745449 112754731 - 12477932;14702039 100874205 ABBA01019853;AK093292;AL356752;AMYH02028731;BC041346;NR_046661;NR_109811 Hs.658692;Hs.666761 APPROVED ncrna ENSG00000232684 HGNC:40645 VALIDATED 1345428 ATP10B ATPase, class V, type 10B ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN cation transmembrane transport (inferred); metabolic process (inferred); phospholipid translocation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH cobalt atom; trichostatin A; valproic acid 5 5 5 q34 156022604 156311791 - 159990127 160279219 - 160563120 160852212 - 1580863;6480464;8554872 11015572;12477932;14702039;15372022;9872452 23120 O94823;Q2YDW8 AB018258;ABBA01044214;ABBA01044215;ABBA01044216;ABBA01044217;AC008388;AC008456;AC011363;AC091928;AK024894;AK025130;AK025290;AK025294;AK090832;AK295081;AMYH02012606;AMYH02012607;AMYH02012608;AMYH02012609;AMYH02012610;AMYH02012611;AMYH02012612;BC018773;BC108322;KF458040;NM_025153;XM_005265849;XM_006714833 AAI08323;AAI67815;BAA34435;BAB15074;BAC03528;BAG58123;NP_079429;O94823;XP_005265906;XP_006714896 Hs.109358 1338700;1646098;1675684;1700266;1739333;1780828;1781020;1785490;1848792;2163199 D5S1818E;D5S2693;D5S529;G16945;RH103750;RH91270;SHGC-153296;WI-22551;bac52337S;bac5784T ATPVB;FLJ21477;KIAA0715 OTTHUMP00000224263;P4-ATPase flippase complex alpha subunit ATP10B;probable phospholipid-transporting ATPase VB protein-coding ENSG00000118322 HGNC:13543 08637 VALIDATED 1316047 ATP10D ATPase, class V, type 10D ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN cation transmembrane transport (inferred); ion transmembrane transport (inferred); metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN endoplasmic reticulum; nucleus; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; cyclosporin A 4 4 4 p12 47936627 48044747 + 47487296 47595503 + 47485280 47593486 + 1580863;6480464;8554872 10819331;12477932;12532265;14702039;15071553;15919184;19798445;20379614;20877624;21890473;22359512;23000965;24125428 57205 H0Y8M7;Q6PEW3;Q9P241 AB040920;ABBA01014336;ABBA01014337;AC092597;AC107398;AJ441078;AK027598;AK074930;AMYH02009161;BC057839;BC131535;CH471069;NM_020453;XM_005248118;XM_005248119;XM_005248120;XM_006714024 AAH57839;AAI31536;BAA96011;BAB55221;BAC11299;CAD29577;EAW93036;EAW93037;NP_065186;Q9P241;XP_005248175;XP_005248176;XP_005248177;XP_006714087 Hs.437241 1645091;1687654;1720513;1759965;1760439;1760815;2218266 ATP10D_4041;D4S2808;G59210;RH93851;SHGC-111174;SHGC-142693;SHGC-144419 ATPVD;KIAA1487 OTTHUMP00000125285;P4-ATPase flippase complex alpha subunit ATP10D;probable phospholipid-transporting ATPase VD;type IV aminophospholipid transporting ATPase protein-coding ENSG00000145246 HGNC:13549 16518 VALIDATED 1348822 ATP11B ATPase, class VI, type 11B P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005] 3 3 3 q27 180945823 181073871 + 182511291 182639423 + 182793503 182921635 + 1580863;6480464 10231032;10737800;11015572;11790799;12477932;14702039;15071553;15489334;15919184;16641997;17456239;19946888;21139048;21914794;23000965;23585472 23200 B4DKX1;B4E3T1;H0Y854;H0Y8C7;H7C4E6;H7C4W6;H7C575;Q9Y2G3 AB023173;ABBA01058490;ABBA01058491;AC069431;AC092953;AF156548;AK093727;AK296750;AK304855;AL133061;AMYH02008270;AMYH02008271;AMYH02008272;BC010630;BC033880;BC042180;BF372979;BI861412;BU431705;BX489704;BX537779;CH471052;DQ925668;DR000074;NM_014616;XM_005247241;XM_005247242;XM_005247243 AAF09446;AAH10630;AAH33880;AAH42180;AAI48559;ABL59895;BAA76800;BAG52754;BAG59333;BAG65593;CAB61385;CAD97838;EAW78344;EAW78345;EAW78346;EAW78347;NP_055431;Q9Y2G3;XP_005247298;XP_005247299;XP_005247300 Hs.478429 1646988;1647529;1697536;1697626;1852319;2131740;2151861 D3S4308;RH102274;RH102325;SHGC-14974;SHGC-36677;SHGC-53491;SHGC-77585 DKFZp434J238;DKFZp434N1615;KIAA0956;MGC46576 ATPIF;ATPIR;ATPase IR;OTTHUMP00000212751;OTTHUMP00000212753;P4-ATPase flippase complex alpha subunit ATP11B;probable phospholipid-transporting ATPase IF;truncated ATPase 11B protein APPROVED protein-coding ENSG00000058063 HGNC:13553 10432 605869 VALIDATED 1351598 ATP11C ATPase, class VI, type 11C ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN cation transmembrane transport (inferred); ion transmembrane transport (inferred); metabolic process (inferred); FOUND IN endoplasmic reticulum; lysosomal membrane; plasma membrane; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; amiodarone X X X q27.1 139175990 139281918 - 138808505 139015190 - 139726346 139933033 - 1580863;6480464 10737800;11015572;12477932;14702039;15071553;15533723;15772651;15919184;16344560;17897319;21906983;21914794;21963094;24904167;8034313 286410 A0A067XG54;A0A067XG57;H7C0E8;H7C113;Q8NB49 AA829385;ABBA01066060;ABBA01066061;ABBA01066062;ABBA01066063;ABBA01066064;ABBA01066065;ABBA01066066;ABBA01066067;ABBA01066068;ABBA01066069;ABBA01066070;ABBA01066071;AJ580093;AJ580094;AK091552;AK093835;AK125474;AK125476;AK125986;AK131262;AL161777;AL356785;AL590077;AMYH02040614;AMYH02040615;AMYH02040616;BC132728;BC132730;BX648320;BX648981;CH471150;D16467;DB348089;NG_016550;NM_001010986;NM_173694;XM_005262405;XM_006724751;XM_006724752;XM_006724753 AAI72372;BAC03692;BAC86172;BAC86377;BAD18440;CAE30472;CAE30473;EAW88424;EAW88425;NP_001010986;NP_775965;Q8NB49;XP_005262462;XP_006724814;XP_006724815;XP_006724816 Hs.88252 1700962;1702680;1702794;1708652;1781132;2218268 ATP11C_4391;RH104108;SHGC-85130;UniSTS:99496;sWXD1509;stdJ41P24T7 ATPIG;ATPIQ;OTTHUMP00000024161;OTTHUMP00000215065;OTTHUMP00000215081;P4-ATPase flippase complex alpha subunit ATP11C;phospholipid-transporting ATPase IG;probable phospholipid-transporting ATPase IG protein-coding ENSG00000101974 HGNC:13554 09814 300516 VALIDATED 734042 ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 13 13 13 q12.12 6318100 6349140 + 25254549 25285923 + 24680411 24711785 + 704409;1580863;704405;1300048;6480464;6907045;8554872 11125071 11880279;12110518;12230809;12477932;15071553;15086469;15135233;16344560;17342744;1847115;19487957;19694409;20379614;21139048;21890473;21906983;21963094;21988832;22053931;22118674;22179016;22505724;23000965;23251661;2842249;3035563;3036582;8045293;8838794;8889548;9872395 479 B4E0R9;P54707 ABBA01007894;AK292968;AK303498;AL157364;AMYH02027708;AMYH02027709;BC031609;CA450333;CH471075;DB216724;DB232979;L42558;L42559;L42560;L42561;L42562;L42563;L42565;L42566;L42567;L42568;L42569;M16797;M27574;NM_001185085;NM_001676;U02076;X69823;X69824 AAA35576;AAA51802;AAB37755;AAC37589;AAH31609;ADZ15516;BAF85657;BAG64531;CAA49477;CAA49478;EAX08343;EAX08344;EAX08345;EAX08346;NP_001172014;NP_001667;P54707 Hs.147111 1339746;1737431;2135099 D13S742;D13S999;SHGC-12920 ATP1AL1 ATPase, Na+/K+ transporting, alpha polypeptide-like 1;ATPase, Na+K+ transporting, alpha-1 polypeptide-like;OTTHUMP00000018132;non-gastric H(+)/K(+) ATPase alpha subunit;non-gastric H(+)/K(+) ATPase subunit alpha;potassium-transporting ATPase alpha chain 2;proton pump;sodium/potassium ATPase, alpha polypeptide-like 1643387 BW328_H APPROVED protein-coding ENSG00000075673 HGNC:13816 01667 182360 REVIEWED 6481170 ATP13A4-AS1 ATP13A4 antisense RNA 1 3 3 q29 193257774 193273371 + 193539985 193555582 + 101929198 ABBA01058288;AC048351;AMYH02008438;BI752631;BX090007;DB308311;NR_046726;NR_121666;XR_241637;XR_249477;XR_251517 Hs.450092;Hs.674423 APPROVED ncrna HGNC:41095 VALIDATED 1342911 ATP13A2 ATPase type 13A2 This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008] 1 1 1 p36 15634791 15660760 - 17312453 17338467 - 16985958 17011972 - 1580863;6480464;7240710;8554872;8699517 11584046;12477932;15381061;15489334;16710414;16964263;17485642;17897319;18413573;18785233;19015489;19085912;19097176;19224617;19705361;19806583;20036179;20137506;20189936;20227461;20301334;20301402;20301601;20310007;20483373;20669327;20816920;20842691;20853184;20976737;21060012;21094623;21139048;21362476;21542062;21665991;21696388;21714071;21724849;21890473;21900206;21906983;22104014;22117566;22186024;22285144;22288903;22296644;22388936;22442086;22457822;22490479;22645275;22647602;22743658;22768177;22847264;23000965;23121889;23196729;23205587;23284715;23447832;23499937;23522931 23400 H0Y8I1;H0Y8V5;H0Y8Z6;H0Y953;H0Y9K0;H0Y9K4;H0YAI7;Q9NQ11 ABBA01000262;AJ009947;AK025928;AK075310;AK290210;AL049569;AL354615;AL833966;AMYH02000388;AY461712;AY987009;BC030267;BC034575;CH471134;HY024349;NG_009054;NM_001141973;NM_001141974;NM_022089;XM_005245809;XM_005245810;XM_005245811;XM_005245812;XM_005245813;XM_005245815;XM_006710512;XM_006710513 AAH30267;AAH34575;AAR23423;AAX88804;BAC11539;BAF82899;CAA08912;CAB89728;CAD38813;EAW94824;EAW94825;EAW94826;EAW94827;NP_001135445;NP_001135446;NP_071372;Q9NQ11;XP_005245866;XP_005245867;XP_005245868;XP_005245869;XP_005245870;XP_005245872;XP_006710575;XP_006710576 Hs.128866 1335476;1338577;1339307;1341324;1745757;2121681;2152546 D1S1592;D1S199;D1S2644;D1S2826;D1S3017;GDB:636056;UniSTS:28191 CLN12;FLJ26510;HSA9947;KRPPD;PARK9;RP1-37C10.4 OTTHUMP00000002399;OTTHUMP00000002400;OTTHUMP00000221711;probable cation-transporting ATPase 13A2;putative ATPase APPROVED protein-coding ENSG00000159363 HGNC:30213 13677 606693;610513 REVIEWED 1601909 ATP11AUN ATP11A upstream neighbor ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsane; arsenic atom; fonofos 13 13 13 q34 94126686 94164130 + 113301358 113338811 + 112647044 112684497 + 6480464;8554872 20858683 400165 Q6ZP68 ABBA01019850;AK129953;AL139384;AMYH02028728;AMYH02028729;AMYH02028730;CH471085;LN608488;NM_207440 BAC85256;EAX09168;NP_997323;Q6ZP68 Hs.591213 1705772;1799226;1800278;1806840;1809974;1810206;1812116;1813192;1813684;1814000;1814376;1814504;1815020;1818250;1820014;1822540;1824348;1826280;1826352;1827068;1827174;1828090;1829078;1830086;1831230;1832778;1833392;1835274;1838652;1838942;1841630;1843376;1844248;1891500;1891502;1891504;1891506;1891508;1891510;1891512;1891514;1891516;1891518;1891520;1891522;1891524;1891526;1891528;1891530;1891532;1891534;1891536;1891538;1891540;1891542;1891544;1891546;1891548;1891550;1891552;1891554;1891556;1891558;1891560;1891562;1891564;1891566;1891568;1891570;1891572;1891574;1891576;1891578;1891580;1891582;1891584;1891586;1891588;1891590;1891592;1891594;1891596;1891598;1891600;1891602;1891604;1891606;1891608;1891610;1891612;1891614;1891616;1891618;1891620;1891622;1891624;1891626;1891628;1891630;1891632;1891634;1891636;1891638;1891640;1891642;1891644;1891646;1891648;1891650;1891652;1891654;1891656;1891658;1891660;1891662;1891664;1891666;1891668;1891670;1891672;1891674;1891676;1891678;1891680;1891682;1891684;1891686;1891688;1891690;1891692;1891694;1891696;1891698;1891700;1891702;1891704;1891706;1891708;1891710;1891712;1891714;1891716;1891718;1891720;1891722;1891724;1891726;1891728;1891730;1891732;1891734;1891736;1891738;1891740;1891742;1891744;1891746;1891748;1891750;1891752;1891754;1891756;1891758;1891760;1891762;1891764;1891766;1891768;1891770;1891772;1891774;1891776;1891778;1891780;1891782;1891784;1891786;1891788;1891790;1891792;1891794;1891796;1891798;1891800;1891802;1891804;1891806;1891808;2201888;2201890;2201892;2201894;2201896;2201898;2201900;2201902;2201904;2201906;2201908;2201910;2201912;2201914;2201916;2201918;2201920;2201922;2201924;2201926;2201928;2201930;2201932;2201934;2201936;2201938;2201940;2201942 ECD00461;ECD00997;ECD04385;ECD05979;ECD06095;ECD07063;ECD07616;ECD07865;ECD08027;ECD08217;ECD08282;ECD08541;ECD10182;ECD11079;ECD12358;ECD13272;ECD14252;ECD14289;ECD14649;ECD14702;ECD15168;ECD15666;ECD16176;ECD16751;ECD17530;ECD17839;ECD18792;ECD20500;ECD20650;ECD22012;ECD22896;ECD23337;REN16454;REN16455;REN16456;REN16457;REN16458;REN16459;REN16460;REN16461;REN16462;REN16463;REN16464;REN16465;REN16466;REN16467;REN16468;REN16469;REN16470;REN16471;REN16472;REN16473;REN16474;REN16475;REN16476;REN16477;REN16478;REN16479;REN16480;REN16481;REN16482;REN16483;REN16484;REN16485;REN16486;REN16487;REN16488;REN16489;REN16490;REN16491;REN16492;REN16493;REN16494;REN16495;REN16496;REN16497;REN16498;REN16499;REN16500;REN16501;REN16502;REN16503;REN16504;REN16505;REN16506;REN16509;REN16510;REN16511;REN16512;REN16513;REN16514;REN16515;REN16516;REN16517;REN16518;REN16519;REN16520;REN16521;REN16522;REN16523;REN16524;REN16525;REN16526;REN16527;REN16528;REN16529;REN16530;REN16531;REN16532;REN16533;REN16534;REN16535;REN16536;REN16537;REN16538;REN16539;REN16540;REN16541;REN16542;REN16544;REN16546;REN16547;REN16548;REN16549;REN16550;REN16551;REN16552;REN16553;REN16554;REN16555;REN16556;REN16557;REN16558;REN16559;REN16560;REN16561;REN16562;REN16563;REN16564;REN16565;REN16566;REN16567;REN16568;REN16569;REN16570;REN16571;REN16572;REN16573;REN16574;REN16575;REN16576;REN16577;REN16578;REN16579;REN16580;REN16581;REN16582;REN16583;REN16584;REN16587;REN16588;REN16589;REN16590;REN16591;REN16592;REN16593;REN16594;REN16595;REN16596;REN16597;REN16598;REN16599;REN16600;REN16601;REN16602;REN16603;REN16604;REN16605;REN16606;REN16607;REN16608;REN16609;REN16610;REN16611;REN16612;REN16613;REN16614;SHGC-78674;stSG621614;stSG621615;stSG621616;stSG621617;stSG621618;stSG621619;stSG621620;stSG621621;stSG621622;stSG621623;stSG621624;stSG621625;stSG621626;stSG621628;stSG621629;stSG621630;stSG621631;stSG621632;stSG621633;stSG621634;stSG621635;stSG621636;stSG621637;stSG621638;stSG621639;stSG621640;stSG621641;stSG621642 C13orf35;FLJ26443;SMABLO1 OTTHUMP00000178855;putative protein ATP11AUN;putative uncharacterized protein C13orf35;small blood protein 1 APPROVED protein-coding ENSG00000197595 HGNC:33793 16926 PROVISIONAL 1353842 ATP13A3 ATPase type 13A3 ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008] 3 3 3 q29 192538810 192604327 - 194123403 194188968 - 194402674 194468239 - 1580863;5509063;6480464;8554872 21793738 11867234;12477932;14702039;15342556;16303743;16344560;16641997;17081983;19913121;19946888;20628086;21139048;21906983;21963094;22505724;23000965;8125298;8175911 79572 C9J7Z7;C9JAP7;H7C1U7;Q9H7F0 ABBA01001627;ABBA01001628;AC108676;AC125362;AJ306929;AK024639;AK075094;AK225064;AMYH02008452;AMYH02008453;BC037805;BC106085;BP313821;BX641098;DA852339;DR005713;DR423199;DV080200;NM_024524;XM_005269357;XM_005269358;XM_005269360;XM_006713742;Z24724 AAI66610;BAB14942;BAC11398;CAC84902;NP_078800;Q9H7F0;XP_005269414;XP_005269415;XP_005269417;XP_006713805 Hs.529609 1660951;1667394;1675736;1695348;1850916;2153394;2172863;2173361 G29192;RH78493;RH93590;SHGC-37559;SHGC-64151;SHGC-64859;SHGC-77686;STS-H48097 AFURS1;DKFZp686K16189;FLJ90613 ATPase family homolog up-regulated in senescence cells 1;OTTHUMP00000209099;probable cation-transporting ATPase 13A3 APPROVED protein-coding ENSG00000133657 HGNC:24113 10636 610232 VALIDATED 6481175 ATP13A5-AS1 ATP13A5 antisense RNA 1 q29 100874218 AC105057;CB054191;CR746107;NR_046758 Hs.407490 APPROVED ncrna HGNC:41281 VALIDATED 1318606 ATP11A ATPase, class VI, type 11A The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q34 94169962 94366346 + 113344358 113541482 + 112690048 112887168 + 1580863;6480464;8554872 10470851;11015572;12477932;14702039;15057823;15533723;17897319;19946888;20043114;20379614;20858683;21139048;21890473;21906983;21914794;21963094;23000965;23583980;24250222 23250 A2A3G9;E9PEJ6;H0Y547;H0Y624;H0Y8F0;P98196;Q659C3;Q6PJ25 AB028944;ABBA01019851;ABBA01019852;ABBA01019853;AI703438;AK024264;AK025511;AK091253;AK128241;AL139384;AL161996;AL162711;AL356740;AL356752;AMYH02028730;AMYH02028731;AMYH02028732;BC008824;BC024154;BC035215;BC044649;BE675783;CH471085;NM_015205;NM_032189;XM_005268299;XM_005268300;XM_005268301;XM_005268303;XM_005268305;XM_005268306;XM_006719965 AAH24154;AAI67794;BAA82973;BAB15157;CAH56364;EAX09171;NP_056020;NP_115565;P98196;XP_005268356;XP_005268357;XP_005268358;XP_005268360;XP_005268362;XP_005268363;XP_006720028 Hs.29189 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tSG621758;stSG621759;stSG621760;stSG621761;stSG621762;stSG621764;stSG621765;stSG621766;stSG621769;stSG621770;stSG621771;stSG621772;stSG621773;stSG621774;stSG621775;stSG621776;stSG621777;stSG621778;stSG621779;stSG621780;stSG621781;stSG621785;stSG621786;stSG621787;stSG621788;stSG621789;stSG621792;stSG621793;stSG621794;stSG621795;stSG621796;stSG621797;stSG621798;stSG621799;stSG621800;stSG621801 ATPIH;ATPIS;OTTHUMP00000018729;OTTHUMP00000062144;P4-ATPase flippase complex alpha subunit ATP11A;phospholipid-translocating ATPase;potential phospholipid-transporting ATPase IH;probable phospholipid-transporting ATPase IH APPROVED protein-coding ENSG00000068650 HGNC:13552 12059 605868 REVIEWED 1346886 ATP13A1 ATPase type 13A1 ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); cation-transporting ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); cation transmembrane transport (inferred); cation transport (inferred); FOUND IN membrane; INTERACTS WITH (+)-catechin; paracetamol; quercetin 19 19 19 p13.11 19660082 19678574 - 19756007 19774512 - 19645198 19663703 - 6480464 11347906;12477932;14702039;15489334;16335952;16344560;17081983;19913121;19946888;20628086;21139048;21890473;21906983;21963094;21988832;22505724;23000965;23864651 57130 H7C3H2;Q9HD20 AB058728;ABBA01051338;AC011458;AF288687;AK026044;AK056420;AK074159;AK074798;AK074920;AK095287;AK123780;AK125861;AK130125;AK172778;AL834180;AMYH02035760;BC009302;BC069211;CH471106;DA103408;NM_020410;XM_005259992;XM_005259993;XM_005259995;XR_430145 AAG01173;AAH09302;AAH69211;AAI56251;BAB15334;BAB47454;BAB84985;BAC11294;BAC85690;BAC86325;BAD18759;BAG51704;BAG53019;CAD38877;EAW84847;EAW84848;EAW84849;EAW84850;EAW84851;EAW84852;EAW84853;EAW84854;NP_065143;Q9HD20;XP_005260049;XP_005260050;XP_005260052 Hs.501794 1686788 RH98505 ATP13A;CGI-152;DKFZp761L1623;FLJ31858;FLJ41786;FLJ43873;FLJ90317;KIAA1825 OTTHUMP00000202891;OTTHUMP00000202892;cation transporting ATPase;manganese-transporting ATPase 13A1;probable cation-transporting ATPase 13A1 protein-coding ENSG00000105726 HGNC:24215 12501 VALIDATED 1346317 ATP13A4 ATPase type 13A4 ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); cation-transporting ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); cation transmembrane transport (inferred); cation transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH hydralazine; trichostatin A; valproic acid 3 3 3 q29 191535006 191687743 - 193119866 193272810 - 193401745 193555122 - 1580863;6480464 12477932;12975309;14702039;15925480 84239 B3KU47;B7WPN9;F8W9W3;H0Y4Z2;H7C1P5;Q4VNC1 ABBA01058288;ABBA01058289;AC048351;AC092942;AC105057;AK095277;AK096510;AL512736;AMYH02008437;AMYH02008438;AY358110;AY823162;BC101496;BC143604;CH471052;NM_032279;XM_005247829;XM_006713786;XR_241512 AAI01497;AAQ88477;AAX24102;BAC04520;BAG53309;CAC21667;EAW78073;EAW78074;EAW78075;NP_115655;Q4VNC1;XP_005247886;XP_006713849 Hs.674423 DKFZp761I1011;MGC126545 OTTHUMP00000082701;OTTHUMP00000159149;P5-ATPase;cation-transporting P5-ATPase;probable cation-transporting ATPase 13A4 protein-coding ENSG00000127249 HGNC:25422 12502 609556 VALIDATED 1603000 ATP1A1-AS1 ATP1A1 antisense RNA 1 INTERACTS WITH melphalan 1 1 1 p13.1 115164113 115189870 - 116935487 116961244 - 116392865 116418622 - 6480464 12477932 84852 Q5TC04 ABBA01068487;AK309389;AK309872;AL136376;AMYH02001791;BC007373;BC018892;BC028281;BC069003;BC098428;BX389823;DC351073;NR_024124;NR_024125;NR_024126;NR_027645;NR_027646 Q5TC04 Hs.664752 2121808;2217046 AL009430;ATP1A1_2746 ATP1A1OS;C1orf203;MGC16179 APPROVED ncrna ENSG00000203865 HGNC:28262 PREDICTED 1343803 ATP13A5 ATPase type 13A5 ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); cation-transporting ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); cation transmembrane transport (inferred); cation transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (S)-amphetamine (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 3 3 3 q29 191408105 191511656 - 192992831 193096514 - 193275042 193378725 - 6480464;8554872 12975309;15925480 344905 C9JPQ4;Q4VNC0 ABBA01058289;ABBA01058290;ABBA01058291;AC105057;AK122613;AMYH02008437;AY358667;AY823163;BC033334;CH471052;NM_198505 AAI56653;AAQ89030;AAX24103;BAC85490;EAW78076;EAW78077;NP_940907;Q4VNC0 Hs.658032 1336972;1684212;1746979;1766725;1794772;2128638 D3S2480;D3S3590;G64904;PMC55343P6;RH93717;SHGC-149999 FLJ16025 OTTHUMP00000209190;P5-ATPase;probable cation-transporting ATPase 13A5 protein-coding ENSG00000187527 HGNC:31789 18597 PROVISIONAL 735332 ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 1 1 1 p21 115144421 115176022 + 116914802 116948069 + 116372180 116404774 + 1579863;1580863;1579862;6480464;6907045;7349365 14993422;23827367;8082931 10473631;10516168;10636900;11027149;11139403;11404365;11509477;11546672;11564973;11832419;11887161;11901144;11926353;12031509;12093728;12461183;12477932;12519789;12671055;12788896;14522987;14555664;14597563;14685860;14742675;14759258;15069082;15071553;15383549;15489334;15515123;15671290;16027165;16169070;16196087;16230337;16243970;16430714;16498080;16708288;16710414;16723354;16730713;16799092;16893516;17081065;17176442;17220478;17255364;17446412;17446437;17550899;17881356;18094063;18348163;18522992;18768923;18769045;18781797;18801933;19019082;19058785;19109419;19243476;19542013;19638348;19683723;1970326;19751721;1975705;19863947;19865785;19913121;20065300;20305087;20332111;20427472;20450619;20473970;20628086;20964587;21043236;21081666;21139048;21141520;21145461;21163940;21319273;21449573;21498719;21565611;2158121;21890473;21906983;21963094;21987572;22053931;22268729;22269832;22304920;22505724;22565168;22586326;22678362;22797923;22797925;23000965;23048038;23125841;23254330;23349050;23416519;23455922;23464991;23602568;23798571;23913004;24082052;24179102;24275648;24304834;2430951;24391932;24503769;24583282;24639526;24797263;24816145;25015289;2842249;2887455;2891135;3030810;3035563;3036582;7536695;7711835;7775468;8391840;8833915;8918259;9159180;9481617 476 P05023;Q5TC01;Q5TC02;Q5TC05 ABBA01068487;AK293689;AK295095;AK296362;AK296384;AK308418;AK314777;AL136376;AL531892;AMYH02001791;AY642124;AY946013;BC001330;BC003077;BC050359;BF795089;CH471122;DC335233;J03007;L76938;M16793;M16794;M27572;M27579;M30310;NM_000701;NM_001160233;NM_001160234;U16798;XM_006710655 AAA35573;AAA35574;AAA51801;AAA51803;AAA92713;AAC50131;AAD56251;AAD56252;AAH01330;AAH03077;AAH50359;AAX55908;ABM82808;ABW03450;BAG37313;BAH11571;BAH11971;BAH12332;BAH12337;EAW56644;EAW56645;EAW56646;EAW56647;EAW56648;NP_000692;NP_001153705;NP_001153706;P05023;XP_006710718 Hs.371889 1665482;1735892;1740783;1850718;2140790;2179949;2217046;5037552 A001Z44;AL009633;ATP1A1_2746;D1S1924E;D1S3311;D8S2279;RH17421;SHGC-75376 MGC3285;MGC51750 Na(+)/K(+) ATPase alpha-1 subunit;Na+, K+ ATPase alpha subunit;Na+/K+ ATPase 1;Na, K-ATPase, alpha-A catalytic polypeptide;Na,K-ATPase alpha-1 subunit;Na,K-ATPase catalytic subunit alpha-A protein;OTTHUMP00000013935;sodium pump 1;sodium pump subunit alpha-1;sodium-potassium ATPase catalytic subunit alpha-1;sodium-potassium-ATPase, alpha 1 polypeptide;sodium/potassium-transporting ATPase subunit alpha-1 APPROVED protein-coding ENSG00000163399 HGNC:799 01662 182310 REVIEWED 736008 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008] 1 1 1 q23.2 133154306 133182156 + 160085520 160113381 + 160115730 160143591 + 1580863;1358436;1601253;1601250;1601251;1601252;1601254;6480464;6903342;6903354;6907045;7240710;8554872;8699517 11257061;11768735;12953268;14576983;15644428;16243970;16286513;18424620 10372716;10636900;10642400;11404365;12477932;12496141;12529322;12539047;12805306;14667076;14685860;14690302;14702039;14742675;14871878;15071553;15133718;15159495;15174025;15210532;15286158;15308625;15383549;15459825;15489334;15569317;15911117;16026932;16037212;16088919;16110494;16344534;16344560;16430714;16437583;16508934;16508935;16538223;17119788;17446412;17473835;17727731;17877748;17952365;18028407;18028456;18052210;18056581;18184292;18294248;18451712;18483709;18498390;18513263;18644608;18728015;18811707;18957371;19007941;19058785;19199261;19372756;19638348;19683723;19751721;19874388;19913121;20065300;20100892;20301562;20473970;20628086;20720542;20837964;20936682;20952631;21139048;21145461;21398422;21533730;2158121;21890473;21906983;21963094;21987572;22013243;22053931;22117059;22433860;22505724;22565168;22661290;22797923;22936730;23000965;23241943;23474907;23821026;23838748;23918834;23954377;24097848;24356962;24639526;2477373;24816145;24928127;2537767;2842249;3035563;3036582;8125298;8391840;9159180;9403481;9579893;9872452 477 B1AKY9;B4DIQ8;H0Y7C1;P50993 AB018321;ABBA01016617;AK091617;AK124581;AK126573;AK295048;AK295729;AK299460;AK308773;AK314296;AL121987;AL831991;AL831997;AMYH02002021;AMYH02002022;AY946014;BC013680;BC047533;BC052271;CH471121;DA221602;EB386326;J05096;M16795;M27578;NG_008014;NM_000702;Y07494 AAA35575;AAA51797;AAA51799;AAH52271;AAX55909;BAA34498;BAG36951;BAG52393;BAG54055;BAG54347;BAG58098;BAG58570;BAG61427;CAA68793;EAW52739;EAW52740;EAW52741;EAW52742;NP_000693;P50993 Hs.34114 1734480;1736294;1742449;1776972;1797306;1850249;2125014;2177301;5017576;5092630 A005C13;ATP1A2;ATP1A2_1794;D1S1763E;D1S2042E;G32224;GDB:197004;RH69645;SHGC-31641;WI-21610 FHM2;MGC59864;MHP2 Na(+)/K(+) ATPase alpha-2 subunit;Na+/K+ ATPase, alpha-A(+) catalytic polypeptide;Na+/K+ ATPase, alpha-B polypeptide;OTTHUMP00000025754;OTTHUMP00000029880;OTTHUMP00000038365;sodium pump subunit alpha-2;sodium-potassium ATPase;sodium-potassium ATPase catalytic subunit alpha-2;sodium/potassium-transporting ATPase alpha-2 chain;sodium/potassium-transporting ATPase subunit alpha-2 1643514;2289625 BW260_H;BW481_H APPROVED protein-coding ENSG00000018625 HGNC:800 01665 104290;182340;602481 REVIEWED 732644 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 19 19 19 q13.31 39270362 39298001 - 42470628 42498428 - 41966476 41994276 - 1580863;1358437;6480464;6907045;7240710;8554872;8699517 9646882 10443882;10636900;11546672;12477932;12634653;14702039;15071553;15260953;15462673;15489334;16712791;16713569;17244347;17282997;17446412;17516473;17595045;18184478;18957371;19058785;19351654;19683723;19751721;20065300;20301294;20301334;20576601;21072501;21139048;21181095;21196491;21498719;2158121;21890473;21906983;21963094;21987572;22053931;22423096;22505724;22842232;22850527;22924536;23000965;23409136;23464991;23483595;23527305;23963607;24356962;24391932;24431296;24523486;24639526;24739246;24816145;2834163;2838329;2842249;2887455;2907504;3030810;3035563;3036582;8125298 478 M0QXF2;M0R116;P13637;Q53ES0 ABBA01040826;ABBA01040827;ABBA01040828;AC010616;AK054736;AK094628;AK122693;AK223569;AK293784;AK295078;AK295833;AK296557;AK307921;AK316069;AL832884;AMYH02036138;AY946015;BC009282;BC009394;BC013763;BC015566;BX478337;CB156520;CH471126;DB482528;M27577;M28286;M28293;M37457;NG_008015;NM_001256213;NM_001256214;NM_152296;X12910;XM_005258953 AAA51798;AAA52285;AAA52286;AAA58380;AAH09282;AAH09394;AAH15566;AAX55910;ADZ15542;BAD97289;BAG51420;BAG52899;BAG53671;BAH11595;BAH11966;BAH12194;BAH12387;BAH14440;CAA31390;EAW57089;NP_001243142;NP_001243143;NP_689509;P13637;XP_005259010 Hs.515427 1336425;1338187;1339937;1670845;1742439;2110889;2124404;2217048 ATP1A3_2763;D19S198;D19S265E;D19S587;D19S900;GDB:196994;RH78939;hsatpn22 AHC2;DYT12;MGC13276;RDP Na(+)/K(+) ATPase alpha(III) subunit;Na(+)/K(+) ATPase alpha-3 subunit;Na+/K+ ATPase 3;OTTHUMP00000174455;OTTHUMP00000174456;sodium pump 3;sodium pump subunit alpha-3;sodium-potassium ATPase catalytic subunit alpha-3;sodium-potassium-ATPase, alpha 3 polypeptide;sodium/potassium-transporting ATPase alpha-3 chain;sodium/potassium-transporting ATPase subunit alpha-3 APPROVED protein-coding ENSG00000105409 HGNC:801 01666 128235;182350;601338;614820 REVIEWED 733097 ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 133190120 133225532 + 160121352 160156767 + 160151562 160186977 + 1580863;6480464;6907045;8554872 10227850;10764792;12112599;12119109;12477932;12763850;14702039;15071553;15489334;16175638;16344560;16710414;16894555;1981991;21145461;2158121;21890473;21906983;21963094;22053931;22505724;23000965;2887455;3035563;3036582;7809153 480 E9PRA5;Q13733 ABBA01016614;ABBA01016615;ABBA01016616;ABBA01016617;AF310646;AF352828;AF390027;AF421887;AF430843;AF459737;AF506797;AK098076;AK308286;AL121987;AL833335;AMYH02002022;AMYH02002023;AY039031;BC028297;BC036052;BC068570;BC094801;BX647234;CH471121;DB094047;M16796;NM_001001734;NM_144699;XM_005245212;XM_006711340 AAA51800;AAH28297;AAH94801;AAK72396;AAL35818;AAL66357;AAM20793;AAQ07964;BAC05228;EAW52737;EAW52738;NP_001001734;NP_653300;Q13733;XP_005245269;XP_006711403 Hs.662219 1687730;2110269 ATP1A4_8220;RH94243 ATP1A1;ATP1AL2;MGC25056 ATPase, Na+/K+ transporting, alpha polypeptide-like 2;Na(+)/K(+) ATPase alpha-4 subunit;Na+/K+ ATPase 4;Na+/K+ ATPase, alpha-D polypeptide;Na,K-ATPase subunit alpha-C;OTTHUMP00000029890;OTTHUMP00000231443;sodium pump 4;sodium pump subunit alpha-4;sodium-potassium ATPase catalytic subunit alpha-4;sodium/potassium-transporting ATPase alpha-4 chain;sodium/potassium-transporting ATPase subunit alpha-4 APPROVED protein-coding ENSG00000132681 HGNC:14073 09541 607321 REVIEWED 1352922 ATP1B1P1 ATPase, Na+/K+ transporting, beta 1 polypeptide pseudogene 1 4 4 4 p13 42476543 42478723 + 42031102 42033282 + 42029085 42031265 + 2559024;2842249 485 ABBA01014279;ABBA01014280;AC113151;AMYH02009102;M25159;NG_001081 1744333;1852233 GDB:451712;SHGC4-259 ATP1BL1 APPROVED pseudo HGNC:809 INFERRED 735774 ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010] 1 1 1 q24 142186000 142212016 + 169075947 169101960 + 169106709 169132722 + 1580863;6480464;6907045;7240710;7349365;8554872 23827367 10636900;11193188;11534180;12093728;12477932;12558975;12754519;1301170;14597563;15071553;15086469;15489334;15606899;15851553;16169070;16230337;16339171;16341674;16430714;16478973;16696853;16710414;16799092;17255364;17947299;18522992;18727914;19064610;19305409;19322201;19322565;19536175;19542013;19563793;19619434;19664334;19664597;19683723;19694409;19913121;20065300;20453000;20458337;20628086;20926452;21085665;21104370;21139048;21141520;21449573;2158121;21642423;21771789;21881522;21900206;21963094;22433860;22990118;23009595;23022198;23048038;23166209;24098465;2538450;2555225;2559024;2842249;2887455;3008098;7499094;7536695 481 A3KLL5;A6NGH2;B7Z9S8;P05026;V9GYR2 AA507932;AA514770;ABBA01027954;ABBA01027955;AK290181;AK296059;AK316043;AL031726;AMYH02002111;AY545986;AY946016;BC000006;BE223067;BG702024;BM762099;BQ934151;BT009787;CD106723;CD722755;CH471067;CR407616;HI573972;M25160;NG_023230;NM_001677;U16799;X17161 AAA36352;AAC50132;AAH00006;AAP88789;AAT11781;AAX55911;BAF82870;BAG58822;BAH14414;CAA35040;CAG28544;CBX47475;EAW90832;EAW90833;NP_001668;P05026 Hs.291196 1652972;1664048;1742191;1744333;1769899;1847832;5017566;5491441 ATP1B1;GDB:193196;GDB:451712;MARC_12181-12182:1004710927:1;SHGC-75866;SHGC-75869;SHGC-75881;WI-14725 ATP1B;MGC1798 Beta 1-subunit of Na(+),K(+)-ATPase;Na, K-ATPase beta-1 polypeptide;OTTHUMP00000032537;OTTHUMP00000032538;adenosinetriphosphatase;atpase na+/k+ transporting beta 1 polypeptide;sodium pump subunit beta-1;sodium-potassium ATPase subunit beta 1 (non-catalytic);sodium/potassium-dependent ATPase beta-1 subunit;sodium/potassium-transporting ATPase beta-1 chain;sodium/potassium-transporting ATPase subunit beta-1 1643514;2289625 BW260_H;BW481_H APPROVED protein-coding ENSG00000143153 HGNC:804 01663 145500;182330 REVIEWED 736555 ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7580634 7587472 + 7554254 7561089 + 7650936 7657771 + 1580863;6480464;6907045;8554872 10636900;10662545;11027149;11193188;12477932;12539047;12558975;12958655;15071553;15294280;15489334;16430714;16865689;1688561;1699290;17411440;17683073;18676680;19170196;19371356;19542013;19625176;19683723;19692168;19764716;20065300;20656459;20937802;21196491;2158121;21963094;22675492;2538450;7711835;8305453;8889548;8918259;9159180;9524271 482 I3L1V9;I3L3J8;P14415 ABBA01054878;AC007421;AF007876;AK290143;AL120033;AL532023;AMYH02032910;AY946017;BC035801;BC126175;BG708115;BM664502;BM703745;BM925700;BQ718053;CD671350;CH471108;D87330;M81181;NM_001678;U45945 AAA51805;AAC39686;AAC50873;AAI26176;AAX55912;ADR82909;BAF82832;EAW90147;EAW90148;NP_001669;P14415 Hs.643540 1850743;2135612;2152420 G15933;RH11458;SGC31498 AMOG Na, K-ATPase beta-2 polypeptide;adhesion molecule in glia;adhesion molecule on glia;sodium pump subunit beta-2;sodium-potassium ATPase subunit beta 2 (non-catalytic);sodium/potassium-dependent ATPase beta-2 subunit;sodium/potassium-dependent ATPase subunit beta-2;sodium/potassium-transporting ATPase beta-2 chain;sodium/potassium-transporting ATPase subunit beta-2 APPROVED protein-coding ENSG00000129244 HGNC:805 01664 182331 REVIEWED 6481283 ATP1B3-AS1 ATP1B3 antisense RNA 1 100874077 AC112504 APPROVED ncrna HGNC:40088 733031 ATP1B3 ATPase, Na+/K+ transporting, beta 3 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008] 3 3 3 q23 140019481 140069148 + 141595424 141645382 + 141876628 141926540 + 1580863;6480464;6907045 10636900;12456588;12477932;12558975;12754519;14702039;15071553;15231747;15489334;17081065;17176442;17353931;17446412;18522992;18781797;19542013;20065300;21139048;2158121;21890473;21906983;21963094;21987572;22990118;23000965;23022198;23798571;24236063;24816145;6289898;8798450;9457675 483 C9J6S2;C9JA36;C9JXZ1;F8WBY4;H7C4L9;H7C547;P54709 ABBA01059039;AC112504;AF005896;AK094673;AK131061;AK293697;AMYH02007808;AMYH02007809;AMYH02007810;AY946018;BC001469;BC011835;BI462090;CH471052;NM_001679;U51478 AAB61713;AAC50665;AAH11835;AAX55913;BAH11573;EAW78982;EAW78983;EAW78984;EAW78985;EAW78986;EAW78987;EAW78988;EAW78989;NP_001670;P54709 Hs.477789 1671816;1681616;1688931;1714123;1739303;1776229;1797308;2111079;2161471;5015961;5016478;5017227;5017266;5020881;5021872;5037552;5092612;5093834 A009X29;ATP1B3_1858;D15S1477;D3S1501E;D3S3294E;D8S2279;G32213;G32951;G38154;GDB:434012;L17709;L18506;RH119669;RH12662;RH66571;RH66869;SHGC-16162;sY3084 ATPB-3;CD298;FLJ29027 Na, K-ATPase beta-3 polypeptide;OTTHUMP00000214031;sodium pump subunit beta-3;sodium-potassium ATPase subunit beta 3 (non-catalytic);sodium/potassium-dependent ATPase beta-3 subunit;sodium/potassium-dependent ATPase subunit beta-3;sodium/potassium-transporting ATPase beta-3 chain;sodium/potassium-transporting ATPase subunit beta-3 APPROVED protein-coding ENSG00000069849 HGNC:806 03521 601867 REVIEWED 1348014 ATP1B3P1 ATPase, Na+/K+ transporting, beta 3 pseudogene 2 2 2 p16.1 60805127 60806664 - 60961525 60963062 - 60734390 60735927 - 9457675 484 ABBA01075337;AC012498;AF005898;AMYH02003913;NG_000849 AAB61675 1681616;1688931;1776229;2161471;5092612 G32213;RH12662;RH66571;RH66869;SHGC-16162 pseudo HGNC:807 INFERRED 736275 ATP1B4 ATPase, Na+/K+ transporting, beta 4 polypeptide This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X X X q24 119961554 119982718 + 119495940 119517104 + 120362085 120383249 + 631939;1580863;6480464;6907045 10456317 12477932;15489334;16344560;16430714;17592128;23333304 23439 B7ZKV9;B7ZKW0;Q9UN42 AA436959;ABBA01049595;ABBA01049596;ABBA01049597;ABBA01049598;AC006962;AF158383;AF158384;AK309999;AMYH02040361;BC117227;BC143404;BC143406;BC143407;CH471107;DA895576;NG_016773;NM_001142447;NM_012069 AAD49692;AAD49693;AAI17228;AAI43405;AAI43407;AAI43408;ADR83150;EAX11885;EAX11886;NP_001135919;NP_036201;Q9UN42 Hs.292599 1702010;1770317;1773399;5014003;5015861;5022450;5022576;5109281;7185938 AL008940;AL021884;D10S16;D10S275;D17S1136;D1S1361;D1S1425;DXS1320 Na,K-ATPase beta m-subunit;OTTHUMP00000023939;OTTHUMP00000023940;X,K-ATPase beta-m subunit;x/potassium-transporting ATPase subunit beta-m APPROVED protein-coding ENSG00000101892 HGNC:808 06453 REVIEWED 731640 ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013] 16 16 16 p12.1 27844578 27896644 + 28889192 28915830 + 28878488 28904509 + 734618;6480464;6907045;7204695;7240710;8554872;8699517 19789383;8841193 10551848;10914677;11402072;11438520;11526231;12032137;12477932;12479237;12525698;12692302;12975374;1329967;14638697;14702039;15071553;15718407;15767202;15972723;16192278;16410239;16642550;16754798;16933204;17010426;17110338;1746562;17728322;18947188;18953100;19061639;19079260;19644701;21145461;21576492;21726808;21890473;21906983;21963094;22505724;22609207;22939629;23911890;24550385;24639526;24816145;2842876;2936465;8040329;8729696;8825625;8889548;9295312;9367679;9405806;9575189;9642673 487 H3BTF1;H3BTW4;H3BUT9;H3BUU3;H3BVB2;O14983;Q7Z675 ABBA01045684;ABBA01045685;AC109460;AC133550;AK092691;AK128456;AK291314;AL706356;AMYH02031815;AMYH02031816;AMYH02031817;BC037354;BC104452;BC104453;BU737186;BX537389;BX537784;BX647365;BX647366;BX647367;BX647368;BX648544;BX649072;CH471267;HB975088;HD032498;NG_023327;NM_001286075;NM_004320;NM_173201;U96773;U96781 AAB53112;AAB53113;AAH37354;AAI48654;BAF84003;BAG52597;BAG54679;CAD97631;CAD97841;CBG22289;CBV35450;EAW52006;NP_001273004;NP_004311;NP_775293;O14983 Hs.657344 1681849;1690043;2110729 RH48558;SH2B_9440;SHGC-61052 ATP2A;SERCA1 OTTHUMP00000162561;OTTHUMP00000162562;SR Ca(2+)-ATPase 1;calcium pump 1;calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform;endoplasmic reticulum class 1/2 Ca(2+) ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 1 APPROVED protein-coding ENSG00000196296 HGNC:811 00157 108730;601003 REVIEWED 732893 ATP2A3 ATPase, Ca++ transporting, ubiquitous This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3838972 3879550 - 3827163 3867758 - 3923869 3964464 - 68726;6480464;6907045;7204695;8554872 11208768;19789383 11956212;11986315;12207029;12477932;12503734;12524443;12540840;12665801;15028735;15071553;15489334;15972967;16250893;16410239;16725111;16973504;17353931;17474147;18068335;18295663;18947868;19100511;19135027;19225163;19650915;19962989;21319273;21906983;21963094;22190034;22304920;22354994;22505724;22948776;23157274;23235306;23752268;24213720;24457600;24816145;8288608;8809064;9593748;9843705 489 A8K9K1;Q93084 AA643105;ABBA01054751;ABBA01054752;ABBA01054753;AC005940;AF068220;AF068221;AF458228;AF458229;AK292716;AMYH02032810;AMYH02032811;AY460339;BC035729;CH471108;JC328780;JC328782;JC328784;JC328786;JC328788;JC328790;NG_029041;NM_005173;NM_174953;NM_174954;NM_174955;NM_174956;NM_174957;NM_174958;S68239;XM_005256656;Y15724;Y15737;Y15738;Z69880;Z69881 AAB29700;AAC24525;AAC24526;AAH35729;AAL78967;AAL78968;AAR15415;ABM84243;ABW03610;BAF85405;CAA75739;CAA75747;CAA75748;CAA93736;CAA93737;CDM55639;CDM55640;CDM55641;CDM55642;CDM55643;CDM55644;EAW90460;EAW90461;EAW90462;EAW90463;EAW90464;EAW90465;EAW90466;EAW90467;EAW90468;EAW90469;EAW90470;NP_005164;NP_777613;NP_777614;NP_777615;NP_777616;NP_777617;NP_777618;Q93084;XP_005256713 Hs.513870 1694502;1736939;1848452;5019587;5092434;5092436 D17S1575;G42991;G54311;G54314;G54315;RH12619 SERCA3 ATPase, Ca(2+)-transporting, ubiquitous;SR Ca(2+)-ATPase 3;adenosine triphosphatase, calcium;calcium pump 3;calcium-translocating P-type ATPase;sarco/endoplasmic reticulum Ca2+ -ATPase;sarco/endoplasmic reticulum Ca2+ ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 3 APPROVED protein-coding ENSG00000074370 HGNC:813 03568 601929 REVIEWED 732984 ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 12 12 12 q21.3 89653490 89721509 - 89981826 90103130 - 89588049 89708836 - 1580863;2317726;6480464;7204695;8554872 19789383;20137670 10493800;10748016;11152753;11786550;12477932;12763866;12784250;12851406;1332771;15071553;15101689;15123239;15911623;16328033;16412504;16488415;16669348;1674727;16933204;17081983;1827443;18657858;18781797;18929409;19017653;19070897;19144698;19396169;19430479;19840794;19892708;19913121;19946888;19960030;20414254;20479155;20628086;20700443;20811636;20852445;20921432;21045733;21126504;21139048;21400627;21572416;21890473;21906983;21909110;21963094;21987572;22053931;22113938;22190034;22229515;22246182;22751097;23000965;23079715;23817774;24001895;24244333;24457600;24584935;24639526;25036637;2528729;2548572;2844759;7694502;7989379;8245032;8386431;8396145;8619474;8634322;8889548;9020386;9110174 490 E7ERY9;F8W1V5;H0YHH6;P20020 AB208896;ABBA01053417;AC009522;AC025034;AC068641;AF070606;AK024895;AK027053;AK308723;AMYH02026905;AY740526;BC015346;BM974301;CH471054;DQ201776;J04027;L14561;M25824;M95541;M95542;NG_029485;NM_001001323;NM_001682;S49852;U15686;U15687;XM_005268919 AAA35999;AAA36000;AAA58381;AAA58382;AAA58383;AAA60983;AAA60984;AAA74511;AAB24324;AAD09924;AAD09925;AAH15346;AAV41065;ABG24240;BAD92133;EAW97429;EAW97430;EAW97431;EAW97432;EAW97433;EAW97434;NP_001001323;NP_001673;P20020;XP_005268976 Hs.506276 1654807;1736312;1746519;1771020;1771327;2156005;2161885;2190515;2191429;2219018 ATP2B1_4221;D12S1250E;D12S2009;EST13H11;G64515;MARC_21823-21824:1025099477:1;RH45012;RH66423;WI-18859;WI-7734 PMCA1;PMCA1kb OTTHUMP00000242513;OTTHUMP00000242514;OTTHUMP00000242515;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-ATPase;plasma membrane calcium-transporting ATPase 1 APPROVED protein-coding ENSG00000070961 HGNC:814 00158 108731 REVIEWED 731733 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008] 12 12 12 q24.11 110344773 110414642 + 110719032 110788898 + 110281227 110351093 + 734619;6480464;6903963;6904139;6771209;6904140;6904142;6892953;6907045;7204695;7240710;8554872;8699517 10080178;18046670;19789383;21216827;21217071;21300842;21441944;21691940 10441323;10441324;10441325;10809745;11121153;11244492;11402072;11526231;11725862;11854448;11945024;12032137;12072062;12477932;12479238;12542527;12659872;12670936;12804600;12805933;12925205;12975374;14638697;14702039;14749390;15071553;15186327;15215242;15302935;15316170;15489334;15489859;15582584;15718407;15927817;15972723;16196087;16368801;16402920;16410239;16552539;16669348;16675202;16754798;16766529;16899508;16958257;16965263;16973504;16987514;17009399;17081983;17110338;17116488;17234728;17257557;17314412;17353931;17395056;17439322;17506935;17515962;17526652;17588601;17597815;17635506;18068335;18071073;18164028;18279980;18295663;18464913;18482030;18591429;18658259;18781797;18953100;18971376;18979109;19019082;19095005;19252085;19322201;19327826;19502158;19541629;19644701;19649297;19650915;19671701;19913121;19962989;20139366;20204653;20223560;20423818;20473970;20528919;20586837;20628086;20687374;20716843;20857128;20964649;21081666;21139048;21145461;21152695;21156808;21195084;21252943;21343306;21515674;21519848;21527373;21616533;21878908;21890473;21900893;21906983;21963094;21987572;22004489;22045735;22053931;22096575;22174317;22190034;22240811;22247554;22277942;22304920;22329366;22360692;22472004;22505724;22586326;22679139;22779921;22814319;22909361;22939629;22990118;23000965;23024360;23055483;23066896;23229631;23254330;23337962;23356892;23438482;23455922;23464991;23798571;23804254;23843619;23956138;24249716;24284796;24337577;24390139;24457600;24508653;24583282;24639526;24816145;25027693;25036637;2844796;7929371;8406504;9295312;9788433 488 F8W1Z7;H7C5W9;J3QSY6;P16615 ABBA01005097;ABBA01005098;AC006088;AK000300;AK095382;AK293877;AL117505;AMYH02027181;AMYH02027182;AY186578;BC035588;BC065753;BG773489;BI553880;BX648282;CH471054;M23114;M23115;M23116;M23278;NG_007097;NM_001681;NM_170665;XM_005253888;XR_243009 AAA52757;AAA52758;AAA53193;AAA53194;AAH35588;AAO47398;BAG57266;EAW97902;EAW97903;EAW97904;EAW97905;EAW97906;EAW97907;NP_001672;NP_733765;P16615;XP_005253945 Hs.506759 1650439;1669120;1675985;1736188;1736242;1855181;1855183;2191515;2218270;5093682;5491770 ATP2A2;ATP2A2__4219;D12S1133E;D12S1188E;D12S1965;D12S2026;G15902;G32862;MARC_24304-24305:1030108971:1;RH67554;WI-18984 ATP2B;DAR;DD;DKFZp686P0211;FLJ20293;FLJ38063;MGC45367;SERCA2 ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2;OTTHUMP00000240820;OTTHUMP00000240822;OTTHUMP00000246198;SR Ca(2+)-ATPase 2;calcium pump 2;calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform;cardiac Ca2+ ATPase;endoplasmic reticulum class 1/2 Ca(2+) ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 2 APPROVED protein-coding ENSG00000174437 HGNC:812 00161 101900;108740;124200 REVIEWED 6481035 ATP2B2-IT1 ATP2B2 intronic transcript 1 (non-protein coding) 100874324 AC018839 ncrna HGNC:41309 6481038 ATP2B2-IT2 ATP2B2 intronic transcript 2 (non-protein coding) p25.3 100874325 AC018502;AI126440;BX110985;NR_046766 Hs.143004 ncrna HGNC:41310 VALIDATED 731628 ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X X q28 153035263 153082068 + 152783905 152848387 + 153518447 153582929 + 1580863;6480464;7204695;7240710;8699517;8554872 19789383 10854409;11152753;12477932;12784250;14702039;15071553;15101689;1531651;17336174;18029348;19733838;20811636;21890473;21906983;21963094;21987572;22912398;23000965;23416519;24082052;24179102;24244333;24639526;7989379;8187550;8245032;8634322;8687195;8765088;8889548 492 Q16720;Q6ZP23 ABBA01045383;ABBA01045384;ABBA01045385;ABBA01045386;AF274858;AK090838;AK094500;AK130194;AK307765;AK308705;AMYH02040836;BC047580;BC130009;BG739902;BM680649;BM695792;BM805938;BM986989;BQ878721;BU183973;BU790224;BU790521;CH471172;DQ201779;NG_015896;NM_001001344;NM_021949;U15689;U15690;U57971;U60414;U82695;XM_005274689;XM_005274690;XM_005274691;XM_005274692;XM_005274693;XM_006724823 AAA60986;AAA60987;AAB09762;AAB38530;AAI30010;ABG24243;BAC85302;EAW72858;EAW72859;EAW72860;NP_001001344;NP_068768;Q16720;XP_005274746;XP_005274747;XP_005274748;XP_005274749;XP_005274750;XP_006724886 Hs.533956;Hs.658008 1649035;1683287;1777455;2166189 A006S03;DXS7001E;RH80841;WI-15046 CFAP39;CLA2;OPCA;PMCA3;PMCA3a;SCAX1 OTTHUMP00000025916;OTTHUMP00000025917;OTTHUMP00000025918;OTTHUMP00000214897;cerebellar ataxia 2 (X-linked);cilia and flagella associated protein 39;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 3 APPROVED protein-coding ENSG00000067842 HGNC:816 02057 300014;302500 REVIEWED 736839 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 p25.3 10301512 10482740 - 10365707 10733131 - 10324023 10707955 - 1580863;6480464;7204695;7240710;8554872 19789383 11152753;11259493;11274188;11786550;12107410;12477932;12624087;12763866;12784250;1313367;1427863;15071553;15101689;15123239;15765049;15829536;15926914;16216224;17234811;17488275;1827443;19043545;19299509;19379709;19850283;19913121;20211863;20301607;20379614;20628086;20663896;20971118;21672522;21757185;21890473;21906983;21963094;21987572;22047666;22053931;22349217;23000965;23620727;24529757;24639526;7929331;7989379;8162598;8187550;8245032;8428366;8634322;9668038;9697703 491 H0Y7S3;Q01814;Q4J699;Q4LE63 AA197323;AB210008;ABBA01020379;ABBA01025233;ABBA01025234;AC018495;AC018502;AC018839;AC022384;AC090841;AK308898;AL134596;AMYH02006256;AMYH02006257;AMYH02006258;BC019853;BC128575;BX489007;CA391502;CH471055;CK023951;DQ201777;DQ201778;FB292361;KF457572;KF457574;KF457577;KF495694;KF510221;L00620;L20977;M97260;NG_012046;NM_001001331;NM_001683;R53305;S95738;S95743;S95758;U15688;X63575;XM_005265179;XM_006713175;XM_006713176;XM_006713177;XM_006713178;XM_006713179;XM_006713180;XM_006713181;XM_006713182 AAA08376;AAA08377;AAA08378;AAA36456;AAA50877;AAA51893;AAA60985;ABG24241;ABG24242;BAE06090;CAA45131;CAP58599;EAW64079;EAW64080;EAW64081;EAW64082;EAW64083;EAW64084;NP_001001331;NP_001674;Q01814;XP_005265236;XP_006713238;XP_006713239;XP_006713240;XP_006713241;XP_006713242;XP_006713243;XP_006713244;XP_006713245 Hs.268942 1666180;1694828;1726641;1727985;1730089;1730483;1735282;1848089;2114459;2139174;2140731;2144337;2153141;2157536;2218728 ATP2B2_4222;D3S1038;D3S2930E;D3S3381;D3S3903;D3S3990;D3S601;G10673;G43664;G62555;G63412;IB1403;NIB487;SHGC-76702;SHGC-76732 PMCA2;PMCA2a;PMCA2i OTTHUMP00000158863;OTTHUMP00000178534;OTTHUMP00000178535;OTTHUMP00000178537;OTTHUMP00000222615;plasma membrane Ca(2+)-ATPase;plasma membrane Ca2+ pump 2;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 2 APPROVED protein-coding ENSG00000157087 HGNC:815 00160 108733;601386 REVIEWED 1348952 ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 176726268 176843554 + 203595915 203713209 + 203626787 203744081 + 1580863;6480464;1599351;7204695;8554872 17092653;19789383 10737800;10748016;11076863;11152753;11230166;11274188;11591728;11751908;12477932;12511555;12540962;12763866;12784250;12944246;1313367;15071553;15101689;15123239;15133509;15145946;15292209;1531651;15489336;15955804;16080782;16216224;16381901;16412504;1674727;16973504;16978418;17242280;17393022;17883705;17957572;18591664;18657858;19034380;19073225;19278978;19287093;19536175;19755660;19946888;19996092;20211863;20379614;21073872;21139048;21139678;21167220;2137451;21890473;21906983;22480210;22505724;22525089;22747683;22767601;22895189;23000965;23263863;23266958;23444010;23549614;23602568;23798571;23830917;24583174;24816145;2963820;2966397;7945253;7989379;8245032;8530416;8634322;8670083;8700162;9105688;9182531;9430700;9880546 493 H0YDG5;H7BY13;H7BZS8;P23634 ABBA01027472;ABBA01027473;AC114402;AK026443;AK292458;AK307104;AL513343;AL601702;AL706212;AMYH02002516;AMYH02002517;AW888226;BC062445;BC140774;BC150293;BF740130;BF985985;BX537444;BX537745;BX647701;CH471067;CR749393;CR936708;DN997129;DQ201780;DQ201781;M25874;M83363;NG_029589;NM_001001396;NM_001684;U42026;U42061;U42062;U42378 AAA36455;AAA50819;AAB17577;AAB17578;AAB17579;AAB17580;AAI40775;AAI50294;ABG24244;ABG24245;BAF85147;CAD97686;CAH18241;CAL38204;CAL38232;EAW91483;EAW91484;EAW91485;EAW91486;EAW91487;NP_001001396;NP_001675;P23634 Hs.343522;Hs.733333 1335881;1651901;1692748;1858385;2128491;2128769;2132616;2132618;2140460;2140745;2149681;2155418;2160440;5115016;7185266 A001V38;AL034138;D1S2376;D1S387;D1S510;G19696;RH63844;RH64618;RH64645;SHGC-12393;SHGC-56960;SHGC-76187;SHGC-76189;SHGC-76196 ATP2B2;DKFZp686G08106;DKFZp686M088;MXRA1;PMCA4;PMCA4b;PMCA4x OTTHUMP00000034088;OTTHUMP00000034089;matrix-remodeling-associated protein 1;matrix-remodelling associated 1;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 4;sarcolemmal calcium pump APPROVED protein-coding ENSG00000058668 HGNC:817 00159 108732 REVIEWED 732511 ATP2C2 ATPase, Ca++ transporting, type 2C, member 2 ENCODES a protein that exhibits ATP binding (inferred); calcium-transporting ATPase activity (inferred); metal ion binding (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); ion transmembrane transport (inferred); metabolic process (inferred); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH trichostatin A; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 q24.1 68704219 68799880 + 84402129 84497793 + 84368523 84464187 + 6480464;7204695;8554872 19789383 12975309;14702039;15071553;15677451;15831496;16332677;18676988;18839057;19646677;20379614;20887894;21906983;23144326;9734811 9914 B3KR57;H3BS90;O75185 AB014603;ABBA01016911;ABBA01016912;ABBA01016913;AC010551;AC022165;AK025424;AK091051;AK092737;AK300526;AK316128;AMYH02032565;AMYH02032566;AMYH02032567;AMYH02032568;AY358243;AY791884;BX648333;CH471114;CR749829;DB218862;KF456217;NM_001286527;NM_001291454;NM_014861;XM_006721355 AAI56685;AAQ88610;AAV54193;BAA31678;BAG52269;BAG62238;BAH14499;CAH18686;CAI46049;EAW95483;EAW95484;EAW95485;NP_001273456;NP_001278383;NP_055676;O75185;XP_006721418 Hs.6168 1643914;1682607;1703206;1776930;2162088;2182413 D16S2951;RH36547;RH65309;SGC31818;SHGC-60885;STS-N48584 DKFZp686H22230;KIAA0703;SPCA2 ATPase 2C2;calcium-transporting ATPase type 2C member 2;secretory pathway Ca(2+)-ATPase 2;secretory pathway calcium ATPase 2 protein-coding ENSG00000064270 HGNC:29103 13812 613082 VALIDATED 733912 ATP2C1 ATPase, Ca++ transporting, type 2C, member 1 The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 3 3 3 q22.1 129038713 129160803 + 130569327 130735556 + 130850483 131016712 + 1580863;704409;6480464;7204695;7240710;8554872;8699517 11125071;19789383 10615129;10718198;10767338;11124703;11741891;11841554;11874499;11966689;12477932;12707275;12761501;12804581;12810057;14632182;14632183;14702039;14747290;15071553;15191544;15336968;15489334;15545997;15623514;15811949;15955096;16192278;16297192;16303743;16332677;16344560;16484827;16540292;16621454;16644186;17503064;17911984;18205868;18211433;18247307;18259764;18266684;18372165;18709316;19126050;19144698;19322201;19426624;19775426;19946888;20055875;20226632;20236194;20237496;20363212;20403116;20604898;20837466;21139048;21187401;21571222;21883398;21890473;21906983;21963094;22124882;22505724;22543864;22607350;22639968;23000965;23442470;23474827;24352221;24457600;7981684 27032 B4E295;B4E2Q0;D6R9U9;D6REJ1;D6RGE9;D6RHV9;E7ERC6;H0Y8X9;H0Y9S7;H0Y9V7;H0YAH2;P98194 AB037768;AB209265;ABBA01059198;ABBA01059199;ABBA01059200;AC055733;AC097105;AF181120;AF181121;AF189723;AF225981;AJ010953;AK001684;AK074692;AK296470;AK299945;AK304175;AK304374;AK314342;AL833453;AMYH02007662;AMYH02007663;AY268374;AY268375;BC028139;BF669202;BF675663;BQ220831;BU188061;CH471052;DA405579;DC343471;DC345627;DC422788;HB975274;HD032684;NG_007379;NM_001001485;NM_001001486;NM_001001487;NM_001199179;NM_001199180;NM_001199181;NM_001199182;NM_001199183;NM_001199184;NM_001199185;NM_014382;XM_005247354;XM_005247355;XM_005247356;XM_005247357;XM_005247358;XM_005247359;XM_006713585 AAF26295;AAF26296;AAF27813;AAF35375;AAH28139;AAP30008;AAP30009;ABW03701;BAA91835;BAA92585;BAC11142;BAD92502;BAG36984;BAG61775;BAG65057;BAG65212;BAH12365;CAA09425;CBG22382;CBV35543;EAW79217;EAW79218;EAW79219;EAW79220;NP_001001485;NP_001001486;NP_001001487;NP_001186108;NP_001186109;NP_001186110;NP_001186111;NP_001186112;NP_001186113;NP_001186114;NP_055197;P98194;XP_005247411;XP_005247412;XP_005247413;XP_005247414;XP_005247415;XP_005247416;XP_006713648 Hs.584884 1653432;1670035;1748725;2106501;2113722;2126376;2136188;2136962;2156750;2173839;2218730 A002S47;AB060927;ATP2C1_3811;HT001__6609;RH11905;RH11935;RH12102;RH78727;SHGC-110366;SHGC-77338;SHGC-77341 ATP2C1A;BCPM;HHD;KIAA1347;PMR1;SPCA1;hSPCA1 ATP-dependent Ca(2+) pump PMR1;ATPase 2C1;ATPase, Ca(2+)-sequestering;HUSSY-28;OTTHUMP00000216066;OTTHUMP00000216067;OTTHUMP00000216068;OTTHUMP00000216069;OTTHUMP00000216070;OTTHUMP00000216071;OTTHUMP00000216072;OTTHUMP00000216073;OTTHUMP00000216074;OTTHUMP00000216075;OTTHUMP00000216076;OTTHUMP00000216253;atpase, ca++-sequestering;calcium-transporting ATPase type 2C member 1;secretory pathway Ca2+/Mn2+ ATPase 1 APPROVED protein-coding ENSG00000017260 HGNC:13211 05089 169600;604384 REVIEWED 1353349 ATP3 ATPase, Mg++ transporting 494 HGNC:818 737185 ATP4B ATPase, H+/K+ exchanging, beta polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008] 13 13 13 q34 95130374 95139808 - 114303119 114312513 - 113648804 113658198 - 1580863;1300048;6480464;6907045 10336993;10722662;11865975;12477932;12651853;1335958;14685860;14743830;15057823;15071553;15155714;15489334;16341674;16344560;1656976;17255364;18787507;19694409;2160952;21963094;21988832;23317218;7900835;9017763;9315713 496 P51164 AB008783;ABBA01019874;AK310129;AL442125;AMYH02028747;BC029059;BC042846;BI764514;BM782259;BM923761;BX100065;BX537316;CH471085;DA964061;KF455827;M75110;NM_000705 AAA35987;AAH29059;ABM81743;ABM84899;BAA23425;EAX09220;EAX09221;NP_000696;P51164 Hs.434202 2134093;7186188 STS-M75110 ATP6B ATPase, H+/K+ transporting, beta polypeptide;OTTHUMP00000178856;gastric H(+)/K(+) ATPase subunit beta;gastric H+/K+ ATPase beta subunit;gastric hydrogen-potassium ATPase, beta;potassium-transporting ATPase beta chain;potassium-transporting ATPase subunit beta;proton pump beta chain APPROVED protein-coding ENSG00000186009 HGNC:820 00669 137217 REVIEWED 734000 ATP4A ATPase, H+/K+ exchanging, alpha polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 32754548 32768023 - 36041095 36054560 - 35550193 35563658 - 1580863;6480464;6907045;8554872 10336993;1330887;14743830;15057824;15071553;15962365;17255364;18772363;19705497;2160952;2176086;21890473;21906983;21963094;23317218;24639526;24773566;3036582;8125298;8279517;9017763 495 M0R249;P20648;Q658V6 ABBA01018746;AC002389;AD000090;AK058032;AK223259;AK308474;AL832971;AMYH02035985;J05451;M27575;M63962;NM_000704 AAA35577;AAA35988;AAA51010;AAB50172;AAB64182;AAI67780;BAD96979;CAH56338;NP_000695;P20648 Hs.36992 1857766;2190491;2218732 ATP4A;ATP4A__4392;D19S1084 ATP6A ATPase, H+/K+ transporting, alpha polypeptide;H(+)-K(+)-ATPase alpha subunit;OTTHUMP00000045780;gastric H(+)/K(+) ATPase subunit alpha;gastric H+/K+ ATPase alpha subunit;gastric H,K-ATPase alpha subunit;gastric H,K-ATPase catalytic subunit;gastric hydrogen-potassium ATPase;potassium-transporting ATPase alpha chain 1;proton pump APPROVED protein-coding ENSG00000105675 HGNC:819 00668 137216 REVIEWED 734400 ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012] 18 18 18 q21 40472298 40486450 - 43664110 43684199 - 46084144 46104233 - 1300048;1580863;6480464;6907045;8699517;7240710;8554872 10077593;11381144;11410595;11741979;12110673;12477932;12601813;12614671;14702039;14749816;15047060;15161933;15324660;15489334;15862967;15952740;16009940;1602151;16196087;16344560;16378738;16714292;17148452;17620599;17623298;17643490;1830491;18457437;18781797;18850735;19016746;19056867;19064571;19110265;19135240;19261598;19343720;19405953;19460752;19531213;19596686;19717637;19738201;19946888;20020773;20085233;20186120;20381070;20462248;20473970;20618440;20819778;20877624;21080425;21081666;21110914;21139048;21145461;21319273;21481781;21565611;21575865;21817160;21825151;21832049;21890473;21906983;21963094;21979464;21987572;21988832;22098431;22113938;22188235;22268729;22505724;22939629;22944692;23000965;23055519;23125841;23181366;23246001;23254330;23364796;23395605;23398456;23402259;23428871;23443559;23455922;23463506;23596069;23599390;23667531;23798571;23862649;23874603;24140708;24244333;24583282;24654937;24816145;25015289;25027693;4517936;7498159;8065448;8086450;8168843;8428659;9284928;9461222;9834036 498 K7EJP1;K7EK77;K7EKV9;K7EM08;K7ENJ4;K7EQH4;K7EQU6;K7ERX7;K7ESA0;P25705;V9HW26 ABBA01022325;AC012569;AK092735;AK098765;AK129739;AK129804;AK129900;AK289457;AK294804;AK302272;AK310051;AMYH02034653;AMYH02034654;AU120644;AU143001;AW205533;AW207528;BC003119;BC007299;BC008028;BC011384;BC016046;BC019310;BC028335;BC035703;BC039135;BC042694;BC064562;BC067385;BT007209;CD244623;CH471088;CK002707;D14710;D28126;FJ224309;NG_041769;NM_001001935;NM_001001937;NM_001257334;NM_001257335;NM_004046;X59066;X65460 AAH03119;AAH07299;AAH08028;AAH11384;AAH16046;AAH19310;AAH39135;AAH64562;AAH67385;AAP35873;AAP36942;ABM85136;ABM92174;ACI46001;BAA03531;BAA05672;BAF82146;BAG52604;BAG57924;BAG63618;CAA41789;CAA46452;EAX01471;NP_001001935;NP_001001937;NP_001244263;NP_001244264;NP_004037;P25705 Hs.298280 1649084;1736560;1776819;1793330;5020274;5022322;5024761;5037552 D11S2560;D16S2555E;D8S2279;L18441;PMC20944P1;RH11585;RH36905;STS-AA020987 ATP5A;ATP5AL2;ATPM;COXPD22;HEL-S-123m;MC5DN4;MOM2;OMR;ORM;hATP1 ATP synthase alpha chain, mitochondrial;ATP synthase subunit alpha, mitochondrial;ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle;ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2;ATP sythase (F1-ATPase) alpha subunit;OTTHUMP00000163475;epididymis secretory sperm binding protein Li 123m;mitochondrial ATP synthetase, oligomycin-resistant;mitochondrial h+-atp synthase alpha subunit APPROVED protein-coding ENSG00000152234 HGNC:823 01258 164360;615228;616045 REVIEWED 1350409 ATP5A1P1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 1 9 p12 41016328 41030100 + 9284928 642545 AMYH02019795;AMYH02019796;AMYH02019797;BX248112;NG_016587 ATP5AP1 APPROVED pseudo HGNC:827 INFERRED 3340246 ATP5A1P10 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10 9 9 q13 66058841 66060270 + 66721435 66722864 + 100132619 CR788261;CR788267;NG_028188 pseudo HGNC:37668 INFERRED 1352266 ATP5A1P2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2 2 2 2 q24.1 149739572 149739978 + 156126143 156126549 + 155269631 155270037 + 9284928 504 ABBA01004822;AC092662;AMYH02005022;NG_008671 ATP5AP2 APPROVED pseudo HGNC:828 INFERRED 1343558 ATP5A1P3 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3 16 16 16 q22.2 56352912 56354761 - 72038802 72040651 - 72004903 72006752 - 9284928 645443 ABBA01016796;AC009127;AMYH02032333;NG_008672;NG_016271 1649084;1736560 D16S2555E;STS-AA020987 ATP5AP3 APPROVED pseudo HGNC:829 INFERRED 1346824 ATP5A1P4 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 4 14 14 14 q23.2 43121137 43122746 - 63070831 63072440 - 62604113 62605722 - 100129782;493822 ABBA01018313;AL389895;AMYH02029326;NG_022842 ATP5AP4 APPROVED pseudo HGNC:23563 INFERRED 1354259 ATP5A1P5 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5 9 9 p12 43399996 43401450 + 42410727 42412157 - 8168843;9284928 442416 ABBA01008832;AL162415;AMYH02020171;BX088651;BX248112;BX649597;NG_016580 ATP5A1P1;ATP5A1P6;ATP5AL1;ATP5AP1 APPROVED pseudo HGNC:825 INFERRED 2816813 ATP5A1P6 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 6 9 p11.2 44558961 44560251 + 643860 AL162415;BX088651;NG_021106 pseudo HGNC:37664 INFERRED 3277921 ATP5A1P7 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7 9 9 p11.2 46998210 46999499 + 62686909 62688198 + 442415 AMYH02020694;BX664724;NG_028724 pseudo HGNC:37665 INFERRED 3498034 ATP5A1P8 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8 9 9 p12 41799224 41800556 - 39654206 39655538 - 392322 ABBA01183881;BX296545;NG_027840 ATP5A1P9 pseudo HGNC:37666 INFERRED 1346333 ATP5A2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle 1830491 499 HGNC:824 1344847 ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 56683671 56691564 - 57031959 57039852 - 56638175 56646068 - 1580863;6480464;6907045 10077593;11410595;11790298;12110673;12206899;12477932;12511957;12601813;14499622;14749816;15242332;15324660;15489334;15635413;15952740;16009940;1602151;16169070;16196087;16210410;16230521;16236267;16751257;16890199;16927672;16996794;17510399;17620599;17643490;18029348;18063578;18157088;18284036;18976975;19056867;19343720;19567816;19596686;19738201;19805454;19847302;19878569;20012595;20028336;20067530;20171186;20186120;20462248;20473970;20547883;20618440;20663914;20705594;21080425;21081666;21110914;21139048;21145461;21182205;21193741;21319273;21382349;21481781;21890473;21900206;21906983;21963094;21987572;22022619;22079093;22190034;22268729;22304920;22433606;22505724;22623428;22751105;22753871;22863883;22939629;23000965;23077236;23125841;23181366;23182705;23246001;23254330;23364796;23395605;23463654;23473034;23523934;23741361;23798571;23874603;24337577;24391795;24457600;24583174;24583282;24816145;2687158;2870059;2896550;2900241;4517936;7798271;8006588;8065448;9461222;9834036 506 F8W079;F8W0P7;H0YH81;H0YI37;P06576;V9HW31 ABBA01008432;AC090681;AK291085;AMYH02026571;BC016512;BI561028;CH471054;DQ403107;FJ224288;HC091114;M19483;M27132;NM_001686;X05606 AAA51808;AAA51809;AAH16512;ABD77240;ABM82511;ABM85705;ACI45980;BAF83774;CAA29095;CBI68016;EAW96952;NP_001677;P06576 Hs.406510 1661902;1736226;2122595;5021151;5094896 ATP5B;D12S1168E;M27132;RH18073;RH78335 ATPMB;ATPSB;HEL-S-271;MGC5231 ATP synthase subunit beta, mitochondrial;OTTHUMP00000243448;OTTHUMP00000243449;OTTHUMP00000243452;epididymis secretory protein Li 271;mitochondrial ATP synthase beta subunit;mitochondrial ATP synthetase, beta subunit APPROVED protein-coding ENSG00000110955 HGNC:830 00044 102910 REVIEWED 1342586 ATP5BL2 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 2 508 HGNC:832 1346159 ATP5BP1 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1 2 2 2 q11.2 93026500 93028283 + 98822584 98824367 + 98206121 98207904 + 2687158;7798271;9847074 507 ABBA01073969;AC018691;AMYH02004383;NG_021261 ATP5BL1;ATPMBL1;ATPSBL1 APPROVED pseudo HGNC:831 INFERRED 732616 ATP5C1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008] 10 10 10 p15.1 7755913 7775585 + 7830093 7849764 + 7788130 7807801 + 631859;1300048;1580863;6480464;6907045;8554872 8168843 11533724;11744705;12110673;12477932;12887009;14749816;14749837;15164054;15489334;16169070;16196087;16385451;17207965;17314511;17686786;19064571;19167051;19531499;19738201;19834535;19946888;20186120;20877624;21139048;21145461;21832049;21890473;21906983;21963094;21988832;22268729;22939629;23125841;23395605;23443559;23798571;24244333;24255178;24337577;24457600;25027693;4517936;8065448;8227057;9461222;9657145;9834036 509 B4DL14;P36542;Q8TAS0 ABBA01034735;AK292896;AK294061;AK296803;AL158044;AL353754;AMYH02022085;BC000470;BC000931;BC010380;BC013394;BC013865;BC016812;BC020824;BC026049;BQ893894;CH471072;CR457403;D16561;D16562;D16563;NM_001001973;NM_005174 AAH00470;AAH00931;AAH13394;AAH16812;AAH20824;AAH26049;ADQ32623;BAA03994;BAA03995;BAA03996;BAA03997;BAF85585;BAG57407;BAG59376;CAG33684;EAW86372;EAW86373;NP_001001973;NP_005165;P36542 Hs.271135 5017182;5120942 RH1622;RH65246 ATP5C;ATP5CL1 ATP synthase gamma chain, mitochondrial;ATP synthase subunit gamma, mitochondrial;F-ATPase gamma subunit;OTTHUMP00000019068;OTTHUMP00000019069;mitochondrial ATP synthase, gamma subunit 1 APPROVED protein-coding ENSG00000165629 HGNC:833 00156 108729 REVIEWED 1345569 ATP5C1P1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1 14 14 14 q22.2 34507371 34508463 - 54457649 54458741 - 53990931 53992023 - 631859 8168843 23259602 645560 ABBA01018189;AL138479;AMYH02029213;NG_004656 ATP5C2;ATP5CL2 APPROVED pseudo HGNC:834 INFERRED 1353040 ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1175982 1179057 + 1241749 1244824 + 1241750 1244825 + 1580863;6480464;6907045 11533724;12110673;12477932;12539966;1286669;12887009;14702039;14749816;14749837;15057824;15231747;1531933;15489334;21139048;21319273;22190034;22623531;22939629;23874603;24816145;4517936;9657145;9834036 513 P30049 ABBA01002634;AC004221;AK094357;AMYH02035145;BC002389;BC004426;BC018079;BC018817;BC050458;BC058927;CH471139;CR542218;NM_001001975;NM_001687;S87916;S87918;X63422;X63423 AAA08055;AAC04304;AAH02389;AAH04426;AAH18079;ABB76284;CAA45016;CAA45017;CAG47014;EAW69531;EAW69532;EAW69533;EAW69534;NP_001001975;NP_001678;P30049 Hs.418668 1681596;5015619;5021872 D11S3114;RH80863;sY3084 ATP synthase subunit delta, mitochondrial;F-ATPase delta subunit;mitochondrial ATP synthase complex delta-subunit precusor;mitochondrial ATP synthase, delta subunit APPROVED protein-coding ENSG00000099624 HGNC:837 04397 603150 REVIEWED 1346801 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011] 20 20 20 q13.32 54344154 54347843 - 57603733 57607422 - 59028678 59032367 - 1302227;1580863;6480464;6907045;8699517;7240710;8554872 10727396 10931946;11173840;11780052;12110673;12477932;14749816;15489334;16236267;16344560;16712791;19016746;20026007;20877624;2137333;21890473;21988832;24067918;24816145;4517936;9461222;9834036 514 P56381 ABBA01005967;AF052955;AF077045;AK026556;AK315493;AL109840;AMYH02037379;BC001690;BC003671;BC070167;BC105811;BT007293;CB106920;CH471077;DA202623;NG_031871;NM_006886 AAD27778;AAF72736;AAH01690;AAH03671;AAI05812;AAP35957;BAG37877;EAW75444;EAW75445;EAW75446;NP_008817;P56381 Hs.177530 1644487;1657577;1714297;2181462;5023463 RH119929;RH36304;RH78170;STS-N30323;STS-R77463 ATPE;MC5DN3;MGC104243 ATP synthase subunit epsilon, mitochondrial;ATPase subunit epsilon;F(0)F(1)-ATPase;H(+)-transporting two-sector ATPase;OTTHUMP00000031404;OTTHUMP00000174442;mitochondrial ATP synthase epsilon chain;mitochondrial ATPase APPROVED protein-coding HGNC:838 05856 606153;614053 REVIEWED 1344555 ATP5EP1 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1 4 4 4 q25 103752668 103753086 + 106453545 106453963 + 105532388 105532806 + 1302227 10727396 23744 ABBA01063735;AC004066;AF277095;AMYH02009852;NG_002691 pseudo HGNC:839 INFERRED 2291819 ATP5EP2 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 ENCODES a protein that exhibits proton-transporting ATP synthase activity, rotational mechanism (inferred); proton-transporting ATPase activity, rotational mechanism (inferred); INVOLVED IN ATP synthesis coupled proton transport (inferred); FOUND IN mitochondrion; INTERACTS WITH 17beta-estradiol; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 13 13 13 q12 9594402 9594769 + 28519343 28519710 + 27945206 27945573 + 6480464 432369 Q5VTU8 ABBA01035737;AL591024;AMYH02027761;EC567419;EC579276;NR_002162 Q5VTU8 Hs.574118 pseudo ENSG00000180389 HGNC:34026 VALIDATED 736319 ATP5F1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 110238666 110251462 + 111991467 112004540 + 111448845 111461918 + 1300048;1580863;6480464;6907045 11827452;12110673;12477932;14749816;15489334;16196087;16710414;17353931;1831354;18781797;19016746;19064571;19650768;19834535;19946888;20038517;20186120;20877624;21139048;21319273;21906983;21963094;21988832;22190034;22779921;22939629;23874603;24337577;24457600;24816145;2868890;2883974;4517936;7706317;7821789;8125298;9461222;9834036 515 P24539;Q08ET0;Q5QNZ2 ABBA01068397;AI754631;AK223018;AK291077;AK308266;AK313541;AL390195;AMYH02001727;AW385236;AW778751;AY871272;BC005366;BC005960;BC016350;BF237506;CH471122;D28383;NM_001688;X60221;XM_005270929 AAH05366;AAH05960;AAH16350;AAX11428;BAA05749;BAD96738;BAF83766;BAG36318;CAA42782;EAW56495;EAW56496;NP_001679;P24539;XP_005270986 Hs.514870 1337813;1677606;1692086;2186101;5016709;5022651;5037552 AL033683;D11S2921;D18S1034;D1S2789;D8S2279;RH65130;RH70850 MGC24431;PIG47 ATP synthase B chain, mitochondrial;ATP synthase F(0) complex subunit B1, mitochondrial;ATP synthase proton-transporting mitochondrial F(0) complex subunit B1;ATP synthase subunit b;ATP synthase subunit b, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1;ATPase subunit b;H+-ATP synthase subunit b;OTTHUMP00000013469;OTTHUMP00000013470;cell proliferation-inducing protein 47 APPROVED protein-coding HGNC:840 04467 603270 REVIEWED 5129377 ATP5F1P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 1 13 13 13 33221775 33222795 + 52172576 52173596 + 51598440 51599460 + 100422523 ABBA01051050;AL139183;NG_024928 pseudo HGNC:39742 INFERRED 5129401 ATP5F1P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 2 7 7 7 q21.3 89066180 89066987 + 94367966 94368773 + 94738654 94739461 + 645973 ABBA01045781;AC104700;AMYH02016286;CH236949;NG_009430 pseudo HGNC:39743 INFERRED 5129405 ATP5F1P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 3 7 7 7 q36.1 147010922 147011685 + 152446057 152446820 + 152748972 152749735 + 644333 ABBA01035114;AC092180;AMYH02017103;NG_022578 pseudo HGNC:39744 INFERRED 5129378 ATP5F1P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 4 2 2 2 147630009 147630766 + 154015452 154016209 + 153158938 153159695 + 100422514 ABBA01004800;AC011901;AMYH02005001;NG_023742 pseudo HGNC:39745 INFERRED 5129394 ATP5F1P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 5 11 11 11 q24.1 119990429 119991187 + 122831035 122831793 + 122960327 122961085 + 100128516 ABBA01031278;AMYH02025709;AP003040;NG_021837 pseudo HGNC:39746 INFERRED 5129403 ATP5F1P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 6 6 6 6 q24.1 140675572 140676335 - 139935578 139936341 - 139614441 139615204 - 645440 ABBA01025787;AL390205;AMYH02014603;NG_022330 pseudo HGNC:39747 INFERRED 5129412 ATP5F1P7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 7 16 16 16 q23.1 60037302 60038058 - 75742957 75743713 - 75709059 75709815 - 124496 ABBA01017056;AC025287;AMYH02032406;NG_022506 pseudo HGNC:39748 INFERRED 1348420 ATP5G1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 43424432 43427516 + 46970148 46973233 + 48892786 48895871 + 1580863;6480464;6907045 11076863;11230166;11256614;12477932;14702039;14749816;15489334;15489336;15906478;16381901;19889836;20877624;21139048;21378990;21963094;2883974;4517936;7698763;8328972;8485160;8889548;9461222;9834036 516 D6R9H7;E7EPU7;E7EQ97;I3L0Y5;P05496;Q6FIH7 ABBA01041181;AC091133;AK095669;AK311848;AL080089;AMYH02033551;BC004963;BF573360;BG611396;BT007230;BU596803;CF129854;CH471109;CR533449;D13118;M16453;NM_001002027;NM_005175;X69907 AAA51806;AAH04963;AAP35894;BAA02420;BAG34790;CAA49532;CAB45704;CAG38480;CAL38315;EAW94705;EAW94706;NP_001002027;NP_005166;P05496 Hs.80986 1660693;2137703 D17S2035;WI-18744 ATP5A;ATP5G ATP synthase F(0) complex subunit C1, mitochondrial;ATP synthase lipid-binding protein;ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P1;ATP synthase proton-transporting mitochondrial F(0) complex subunit C1;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9);ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1;ATPase protein 9;ATPase subunit 9;ATPase subunit C;OTTHUMP00000218389;OTTHUMP00000218391;OTTHUMP00000218448;OTTHUMP00000218449;OTTHUMP00000218450;mitochondrial ATP synthase, subunit 9, isoform 1;mitochondrial ATP synthase, subunit C, isoform 1 APPROVED protein-coding ENSG00000159199 HGNC:841 04428 603192 REVIEWED 1347596 ATP5G1P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 1 14 14 14 q32.33 86055966 86056512 - 106003083 106003629 - 105536746 105537292 - 319136 ABBA01008884;AC243900;AL928742;NG_002514 ATP5GP3 APPROVED pseudo HGNC:19815 INFERRED 1351129 ATP5G1P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 2 14 14 14 q12 11654826 11655393 - 31789327 31789894 - 31320121 31320688 - 319137 ABBA01061419;AL139353;AMYH02028953;NG_002515 ATP5GP4 APPROVED pseudo HGNC:19817 INFERRED 4892192 ATP5G1P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 3 3 3 3 q22.3 137034539 137035241 - 138608097 138608799 - 138889255 138889957 - 646619 ABBA01059073;AC092947;AMYH02007783;NG_022220 1335298;1337904;1731677 D3S1535;D3S1665;D8S1019 pseudo HGNC:39506 INFERRED 4892173 ATP5G1P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 4 3 3 3 q26.31 170945494 170946038 - 172546423 172547005 - 172828633 172829215 - 100287755 ABBA01058644;AC108667;AMYH02008153;NG_028935 pseudo HGNC:39507 INFERRED 4892148 ATP5G1P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 5 13 13 13 q33.3 88160014 88160536 + 107315740 107316298 + 106663392 106663950 + 390424 ABBA01027046;AL442127;AMYH02028666;CH471085;NG_023226 EAX09090 pseudo HGNC:39508 INFERRED 4892171 ATP5G1P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 6 18 18 q21.3 61164175 61164731 + 63496942 63497498 + 100505704 ABBA01056222;AC036176;AMYH02034885;NG_028974 pseudo HGNC:39509 INFERRED 4892174 ATP5G1P7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 7 10 10 10 q22.1 64469136 64473750 - 71192620 71193169 - 69432864 69433413 - 100130962 ABBA01019607;AC016821;AMYH02023271;NG_028965 pseudo HGNC:39510 INFERRED 4892172 ATP5G1P8 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 8 10 10 q22.3 78596104 78596715 + 76836346 76836957 + 100288222 ABBA01020241;AC011439;AC013738;AMYH02023376;NG_028756 2161656;2172002;2183182 A003B45;NIB1917;RH11276 pseudo HGNC:39511 INFERRED 736098 ATP5G2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene has multiple pseudogenes. [provided by RefSeq, Jun 2010] 12 12 12 q13.13 53709025 53720613 - 54058944 54070512 - 53665160 53676728 - 1300048;1580863;6480464;6907045 11329013;12477932;14749816;15231747;15489334;16303743;19064571;20189936;20877624;21963094;21988832;22645275;24250222;2883974;7698763;7706317;7821789;8328972;8485160;9461222;9834036 517 F8VXQ8;F8W041;Q06055 ABBA01008355;AC073594;AK075351;AK130971;AK311357;AMYH02026527;AMYH02026528;AV737582;BC013839;BC020826;BF337574;BG217012;BQ682406;BX348847;CH471054;D13119;D28402;H83751;M16439;NM_001002031;NM_005176;X69908 AAA51804;AAH20826;ABM82293;ABM85473;BAA02421;BAA05768;BAG52118;CAA49533;EAW96725;EAW96726;NP_001002031;NP_005167;Q06055 Hs.524464 1747705;2127399;2147163;5015619;5015861;5015879;5020946;5021228;5022322;5037552;5118576;7185938 A006X11;D10S16;D11S2560;D11S3114;D11S3430;D12S2096;D8S2279;G64259;GDB:312794;GDB:314949;L17971 ATP5A ATP synthase F(0) complex subunit C2, mitochondrial;ATP synthase c subunit;ATP synthase lipid-binding protein;ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P2;ATP synthase proton-transporting mitochondrial F(0) complex subunit C2;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9);ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2;ATPase protein 9;ATPase subunit C;OTTHUMP00000164641;OTTHUMP00000164642;OTTHUMP00000242922;mitochondrial ATP synthase, subunit C (subunit 9), isoform 2 APPROVED protein-coding ENSG00000135390 HGNC:842 04429 603193 REVIEWED 1354351 ATP5G2P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 1 1 1 1 q32.2 182671846 182672479 - 209440995 209441628 - 209267650 209268283 - 8328972 520 ABBA01048220;AC092810;AMYH02002595;NG_005472;X69909 ATP5GP1 APPROVED pseudo HGNC:844 INFERRED 1344994 ATP5G2P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 2 14 14 14 q21.3 29700544 29701166 + 49840630 49841252 + 49373912 49374534 + 22610502 319119 ABBA01018106;AL512361;AMYH02029144;NG_002500 ATP5GP2 APPROVED pseudo HGNC:19672 INFERRED 5133592 ATP5G2P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 3 2 2 q33.1 198127781 198128402 + 197263057 197263678 + 100507097 ABBA01062468;AC074092;AMYH02005518;NG_029212 pseudo HGNC:42187 INFERRED 5133627 ATP5G2P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 4 X X X p11.4 46100079 46100707 - 41957856 41958484 - 42098603 42099231 - 654480 ABBA01046588;ABBA01046589;AMYH02039221;NG_005473;Z92545 1694112;1702078;2121309;2136375;2157201;5108958 AL035126;DXS1379;DXS1700;DXS7055;DXS7512;L77298 pseudo HGNC:42188 INFERRED 734314 ATP5G3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010] 2 2 2 q31.1 169654533 169660034 - 176040986 176046490 - 175176258 175181762 - 1300048;1580863;6480464;6907045 12477932;14667819;14749816;15489334;15815621;20877624;21103663;22505724;2883974;7698763;8328972;9461222;9834036 518 P48201;Q6LEU9 ABBA01062204;AC096649;AK125917;AK311999;AMYH02005286;AW025164;BC106881;BF210704;BI756002;BI765737;BQ054164;CA424417;CH471058;CR407601;NM_001002258;NM_001190329;NM_001689;U09813 AAA78807;AAI06882;AAX88970;ACE87781;ACT64448;BAG34937;CAG28411;EAX11105;EAX11106;EAX11107;EAX11108;NP_001002258;NP_001177258;NP_001680;P48201 Hs.429 1658328;1689761;1734992;1856922;2120992;5022651 D11S2921;D2S1729E;RH16634;RH46434;RH98914;SHGC-56806 MGC125738;P3 ATP synthase F(0) complex subunit C3, mitochondrial;ATP synthase lipid-binding protein;ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P3;ATP synthase proton-transporting mitochondrial F(0) complex subunit C3;ATP synthase subunit 9;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9);ATP synthase, mitochondrial, C subunit-3;ATPase protein 9;ATPase subunit C;OTTHUMP00000163263;OTTHUMP00000205361;OTTHUMP00000205362;atp synthase, h+ transporting, mitochondrial f0 complex, subunit c (subunit 9) isoform 3 APPROVED protein-coding HGNC:843 04112 602736 REVIEWED 1351705 ATP5H ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010] 17 17 17 q25 69628209 69636011 - 73034955 73043074 - 75038860 75046979 - 1580863;6480464;6907045 11042152;12110673;12471886;12477932;12628343;12745923;14702039;14749816;15489334;16169070;16751776;19016746;19110265;20186120;20877624;21139048;21832049;21890473;21906983;22190034;22939629;23246001;23658844;24583282;4517936;7509337;9461222;9834036 10476 A0PJH2;F5H608;O75947 AA608885;ABBA01028819;AC087651;AF061735;AF070650;AF086159;AF087135;AK095671;AK312230;AMYH02033982;BC029392;BC032245;BC038092;CH471099;DQ583597;NM_001003785;NM_006356 AAC36338;AAD20956;AAG43146;AAH29392;AAH32245;AAH38092;BAG35163;EAW89228;EAW89229;NP_001003785;NP_006347;O75947 Hs.514465 1678863;5015619;5020946;5022604;5037552 D11S3114;D12S1156E;D8S2279;L17971;RH17542 ATP5JD;ATPQ ATP synthase D chain, mitochondrial;ATP synthase subunit d, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d;ATP synthase, H+ transporting, mitochondrial F1F0, subunit d;ATPase subunit d;My032 protein APPROVED protein-coding ENSG00000167863 HGNC:845 16519 REVIEWED 2303321 ATP5HP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 1 15 15 15 q15.2 20330865 20331459 - 43560029 43560623 - 43267831 43268425 - 390581 ABBA01038351;AC009852;AMYH02030301;NG_004675;NG_016124 1678863 RH17542 HsT18164 APPROVED pseudo HGNC:31021 INFERRED 7970285 ATP5HP2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 2 9 9 9 p24.2 2818487 2819093 - 2900240 2900846 - 2900240 2900846 - 138234 ABBA01065436;AL589675;AMYH02019056;NG_001540 pseudo HGNC:49624 INFERRED 7925084 ATP5HP3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 3 9 9 9 p23 14002436 14003038 + 14068877 14069479 + 14068878 14069480 + 138864 ABBA01065306;AL441963;AMYH02019187;CH471071;NG_023175 EAW58700 pseudo HGNC:49625 INFERRED 7840788 ATP5HP4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 4 12 12 12 q14 68699964 68700559 - 69036223 69036818 - 68642443 68643038 - 246723 ABBA01026555;AC015550;AMYH02026697;NG_001585 pseudo HGNC:49626 INFERRED 1350783 ATP5I ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] 4 4 4 p16.3 606912 634112 - 666225 668127 - 672436 674338 - 1580863;6480464;6907045 10409428;11939412;12110673;12471886;12477932;12628343;12745923;14749816;15489334;16344560;16682002;18029348;18060860;19167051;19460752;19738201;20195357;20877624;21139048;22623428;22939629;24250222;24457600;24583282;24816145;25015289;4517936;8702853;9461222;9834036 521 P56385;Q9Y6W4 AB028624;ABBA01019337;AC107464;AK000656;AMYH02008558;BC003679;BC017215;BC105610;BF215596;BG940181;BG943252;BT006922;CH471131;D50371;DA119852;NM_007100;NR_033743 AAH03679;AAI05611;AAP35568;AAP36676;BAA23322;BAA78778;EAW82660;NP_009031;P56385 Hs.85539 1341961;1646206;1849572;5017192;5128289 D4S2936;D4S913;G34358;RH48833;SHGC-152391 ATP5K;MGC12532 ATP synthase e chain, mitochondrial;ATP synthase subunit e, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E;ATPase subunit e;F1F0-ATP synthase, murine e subunit;OTTHUMP00000109533 APPROVED protein-coding ENSG00000169020 HGNC:846 03308 601519 REVIEWED 735304 ATP5J ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex, required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. A pseudogene exists on chromosome Yp11.[provided by RefSeq, Jun 2010] 21 21 21 q21.1 12280206 12291380 - 27096791 27107965 - 25724480 25735654 - 1300048;1580863;6480464;6484113;6907045 10830953;11230166;12110673;12471886;12477932;12628343;12745923;1286669;14633154;14749816;15489334;15709156;15785006;16230521;16532470;17456993;18029348;18243211;1825642;1830479;19064571;19106112;19759913;20811295;20877624;20953793;21890473;21900206;22038518;22190034;22939629;23000965;24124598;4517936;7698763;9461222;9732751;9834036 522 A8MUH2;P18859;Q6IB54;Q6NZ59 ABBA01057211;AI085837;AK311899;AL110183;AMYH02037648;AMYH02037649;AP000226;AX888146;AY544129;BC001178;BC066310;BG938438;BI093033;BQ268216;BT007244;BU174560;CH471079;CR456950;M37104;M73031;NM_001003696;NM_001003697;NM_001003701;NM_001003703;NM_001685;XM_005260992 AAA51807;AAA58630;AAH01178;AAH66310;AAP35908;AAT11160;BAG34840;CAB53667;CAE94071;CAG33231;EAX09970;EAX09971;EAX09972;EAX09973;EAX09974;EAX09975;NP_001003696;NP_001003697;NP_001003701;NP_001003703;NP_001676;P18859;XP_005261049 Hs.246310 1678055 RH38901 ATP5;ATP5A;ATPM;CF6;F6 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6;ATP synthase-coupling factor 6, mitochondrial;ATPase subunit F6;OTTHUMP00000096106;OTTHUMP00000096107;OTTHUMP00000096108;OTTHUMP00000096110;OTTHUMP00000096111;OTTHUMP00000096112;coupling factor 6;mitochondrial ATP synthase, coupling factor 6;mitochondrial ATP synthase, subunit F6;mitochondrial ATPase coupling factor 6;proliferation-inducing protein 36 APPROVED protein-coding ENSG00000154723 HGNC:847 04399 603152 REVIEWED 1345847 ATP5J2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010] 7 7 7 q22.1 93789985 93798009 - 99055784 99063824 - 99458161 99466201 - 1298632;1580863;6480464;6907045;8554872 9653160 11042152;11959398;12110673;12471886;12477932;12628343;12690205;12745923;14702039;14749816;15146197;15489334;16169070;16344560;16712791;17314511;17342744;18505769;18596870;18781797;19064571;20877624;21139048;21150319;22939629;24244333;24654937;4517936;8125298;9461222;9834036 9551 C9JU26;E5RKA0;P56134 ABBA01013261;ABBA01013262;AC073063;AF047436;AF088918;AK094388;AK123419;AK223348;AMYH02016360;AY046911;BC003678;BE139254;BU587946;CB110074;CB155273;CD173604;CD176299;CH236956;CH471091;CN274665;CR456891;CR542155;CS072281;DA064847;DB114195;EL952520;NM_001003713;NM_001003714;NM_001039178;NM_004889 AAC34895;AAC39887;AAH03678;AAL06647;BAD97068;CAG33172;CAG46952;CAI93419;EAL23877;EAW76661;NP_001003713;NP_001003714;NP_001034267;NP_004880;P56134 Hs.521056;Hs.656515 1670584;1768762;5124605 GDB:4584994;RH91344;WI-18640 ATP5JL ATP synthase f chain, mitochondrial;ATP synthase subunit f, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2;F1F0-type ATPase subunit f;F1Fo-ATP synthase complex Fo membrane domain f subunit;F1Fo-ATPase synthase f subunit;OTTHUMP00000206242;OTTHUMP00000206270;OTTHUMP00000206317;OTTHUMP00000214468;OTTHUMP00000214469;OTTHUMP00000225439 APPROVED protein-coding ENSG00000241468 HGNC:848 16520 REVIEWED 5013862 ATP5J2-PTCD1 ATP5J2-PTCD1 readthrough This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 7 7 q 99014362 99063824 - 99416739 99466201 - 6480464;8554872 12853948;20967262;21890473;24457600;9847074 100526740 B4DJ38;C9JJT5;G3V325 ABBA01013261;ABBA01013262;ABBA01013263;AC004922;AC073063;AC090113;AK295912;AMYH02016360;NM_001198879 BAG58700;NP_001185808 Hs.632313 1693582;5015619;5015961;5022588;5022651;5037552 D11S2921;D11S3114;D15S1477;D5S1597E;D8S2279;SHGC-58489 FLJ56092 ATP5J2-PTCD1 fusion protein;ATP5J2-PTCD1 read-through transcript;OTTHUMP00000218971 APPROVED protein-coding ENSG00000248919 HGNC:38844 VALIDATED 1354458 ATP5J2LP ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene DISCONTINUED: This record has been withdrawn by the NCBI staff because it was annotated on the wrong strand. This pseudogene locus is now represented by GeneID:101241877. 21 21 q22.13 22959439 22959874 + 37761052 37761487 + 10830953 54100 AP000694;AP001725 APPROVED pseudo WITHDRAWN 7240984 ATP5J2LP ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene 21 21 q22.13 37761176 37761410 - 36388878 36389112 - 101241877 ABBA01057395;AMYH02037781;AP000694;NG_033132 pseudo ENSG00000224421 HGNC:849 INFERRED 1346132 ATP5J2P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 2 6 6 6 q21 109974585 109975005 + 109228680 109229099 + 108907477 108907896 + 387107 ABBA01026140;AL445189;AMYH02014277;NG_004672 1670584;1768762 GDB:4584994;WI-18640 bA249L21.4 APPROVED pseudo HGNC:21540 INFERRED 1343122 ATP5J2P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 3 9 9 q21.2 79655332 79655586 + 77040416 77040670 + 445573 ABBA01033919;AL353637;AMYH02021030;NG_032710 bA159H20.5 APPROVED pseudo HGNC:21286 INFERRED 1642108 ATP5J2P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 5 12 12 12 p13.3 7995235 7995652 - 6379191 6379608 - 6270025 6270442 - 654484 ABBA01017634;AC006057;AMYH02025947;NG_005477 APPROVED pseudo HGNC:33611 INFERRED 1344612 ATP5L2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 ENCODES a protein that exhibits hydrogen ion transmembrane transporter activity (inferred); INVOLVED IN ATP synthesis coupled proton transport (inferred); FOUND IN mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; 17alpha-ethynylestradiol (ortholog) 22 22 22 q13.2 26946291 26947085 - 43035809 43036607 - 42639803 42640601 - 1580863;6480464 10361692;12477932;15489334 267020 Q7Z4Y8 ABBA01017932;AF092923;AMYH02038464;BC093719;BC093721;NG_012194;NM_001165877 AAP97217;NP_001159349;Q7Z4Y8 Hs.664737 2220506 UniSTS:483707 ATP5K2;dJ222E13.5 ATP synthase subunit g 2, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2-like;ATP synthase, H+ transporting, mitochondrial F1F0, subunit g;ATPase subunit g 2;OTTHUMP00000220201;atp synthase, h+ transporting, mitochondrial f0 complex, subunit g, isoform 2 APPROVED protein-coding ENSG00000249222 HGNC:13213 VALIDATED 1642107 ATP5J2P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 4 17 17 17 q 56957472 56957880 + 62487635 62488043 + 64491518 64491926 + 654485 ABBA01035297;AC009994;AC138744;AC234063;AMYH02033792;NG_005476;NG_013029 APPROVED pseudo HGNC:32451 INFERRED 1642106 ATP5J2P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 6 15 15 15 q22 43596828 43597253 - 66707138 66707563 - 66414800 66415225 - 654486 ABBA01038822;AC011276;AMYH02030646;NG_005475;NG_008305 APPROVED pseudo HGNC:33612 VALIDATED 1344028 ATP5LP3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 3 4 4 p15.2 24659285 24660044 - 24657662 24658421 - 53409 ABBA01032684;AC114777;AF261723;AMYH02008901;NG_005043 1697932 RH102495 ATP5KP3;ATPE5KP3 APPROVED pseudo HGNC:13216 INFERRED 1350659 ATP5LP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 1 11 11 11 q13.1 60927942 60928394 - 63602064 63602516 - 63834592 63835044 - 53411 ABBA01003271;AF261721;AMYH02024920;AP006289;NG_004834;NG_029771 ATP5KP1;ATPE5KP1 APPROVED pseudo HGNC:13214 INFERRED 2902896 ATP5JP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 pseudogene 1 Y Y Y p11.2 2446539 2446873 - 6769175 6769509 + 6901134 6901468 + 12815422;9847074 359997 ABBA01034865;AC011297;NG_002918 2125637 DYS265 pseudo HGNC:23933 INFERRED 1353372 ATP5LP2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 2 6 6 6 q22.31 123925257 123925667 - 123180748 123181158 - 122859603 122860013 - 53410 ABBA01025980;AF261722;AL732431;AMYH02014413;NG_005040 ATP5KP2 APPROVED pseudo HGNC:13215 INFERRED 1352647 ATP5L ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] 11 11 11 q23.3 115429967 115438425 + 118272104 118280562 + 118401389 118409847 + 1580863;6480464;6907045 11042152;11076863;11230166;11256614;12110673;12471886;12477932;12628343;12745923;14749816;15489334;15489336;16196087;16381901;17137291;17353931;20186120;20819778;20876399;20877624;21139048;21319273;21890473;21906983;22939629;23464991;24797263;24816145;4517936;9461222;9834036 10632 E9PN17;O75964 AA258888;ABBA01039711;AF070655;AF087846;AF092124;AI337729;AK289568;AL050277;AMYH02025638;AP001267;BC015128;BC070165;BU953217;CH471065;CR533494;CR542211;NM_006476;NR_033759 AAC61597;AAD20961;AAH15128;AAH70165;AAP97159;BAF82257;CAB43378;CAG38525;CAG47007;CAL37942;CAL38390;EAW67376;NP_006467;O75964 Hs.486360 1652607;1671185;2141064 A006R09;D20S1118;RH66640 ATP5JG ATP synthase g chain, mitochondrial;ATP synthase subunit g, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G;ATP synthase, H+ transporting, mitochondrial F1F0, subunit g;ATPase subunit G;F1F0-type ATP synthase subunit g;F1Fo-ATP synthase complex Fo membrane domain g subunit;OTTHUMP00000232646 APPROVED protein-coding ENSG00000167283 HGNC:14247 09815 REVIEWED 3254930 ATP5LP5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 5 3 3 3 q25.2 150936911 150963022 - 152518223 152544334 - 152800434 152826545 - 22610502 100287091 ABBA01058888;ABBA01058889;AC013251;AMYH02007918;NG_022986 pseudo HGNC:38167 INFERRED 3028767 ATP5LP7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 7 17 17 q21.2 37455320 37455629 + 40799856 40800165 + 100287964 AC067852;NG_023016 pseudo HGNC:38169 INFERRED 3051036 ATP5LP4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 4 4 4 4 q31.23 146945332 146945638 - 149624678 149624984 - 148703526 148703832 - 22493691 100130396 ABBA01070067;AC108935;AMYH02010285;NG_022979 pseudo HGNC:38165 INFERRED 3051010 ATP5LP8 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 8 11 11 11 28312312 28312614 - 28166450 28166752 - 28144903 28145205 - 100462862 ABBA01060959;AC023206;AMYH02024510;NG_021779 pseudo HGNC:38170 INFERRED 3051009 ATP5LP6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 6 17 17 17 70792526 70792796 - 74198607 74198877 - 76202526 76202796 - 100462865 ABBA01028754;AC015801;AMYH02034007;NG_022453 pseudo HGNC:38168 INFERRED 1348097 ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 20475343 20487744 - 35275757 35288158 - 33903453 33915854 - 1580863;6480464;6907045;8554872 10830953;12110673;12477932;12665801;14702039;15489334;15850986;16196087;17567994;17571346;17851741;19064571;19274082;19615732;19738201;20800603;20877624;20972266;21139048;21319273;21890473;21906983;22190034;22304920;22623428;22939629;23000965;23046812;23125841;23222517;23246001;23463506;23473034;23798571;24244333;24250222;24457600;24583282;24816145;4517936;7490082;8125298 539 H7C068;H7C086;H7C239;H7C2P9;P48047 ABBA01057362;AF088071;AK093795;AK124187;AK222608;AK222962;AK311796;AMYH02037749;AP000313;AV734214;AW518473;BC021233;BC022865;BT019836;CD174837;CH471079;CR456822;NM_001697;X83218 AAH21233;AAH22865;AAV38639;ADZ16081;BAD96328;BAD96682;BAG34739;CAA58219;CAG33103;EAX09802;EAX09803;EAX09804;NP_001688;P48047 Hs.409140 1646399;1677438;1801022;1801862;1813084;1814678;1820598;1820712;1821046;1824404;1824634;1826422;1832294;1834780;1835432;1844312;1845576;1858612;2032308;2032310;2032312;2032314;2032316;2032318;2032320;2032322;2032324;2032326;2032328;2032330;2032332;2032334;2032336;2032338;2032340;2032342;2032344;2032346;2032348;2032350;2032352;2032354;2032356;2032358;2032360;2032362;2032364;2032366;2032368;2032370;2032372;2032374;2032376;2032378;2032380;2032382;2032384;2032386;2032388;2032390;2032392;2032394;2032396;2032398;2032400;2032402;2032404;2032406;2032408;2032410;2032412;2032414;2032416;2032418;2032420;2032422;2032424;2032426;2032428;2032430;2032432;2032434;2032436;2032438;2101860;2101862;2101864;2101866;2101868;2101870;2101872;2101874;2101876;2101878;2101880;2101882;2168124;5096338 D21S1977;D21S1980;ECD01377;ECD01812;ECD07561;ECD08369;ECD11374;ECD11431;ECD11600;ECD13300;ECD13415;ECD14325;ECD17286;ECD18538;ECD18871;ECD23370;ECD24006;ECD24507;REN87161;REN87162;REN87163;REN87164;REN87165;REN87166;REN87167;REN87168;REN87169;REN87170;REN87171;REN87172;REN87173;REN87174;REN87175;REN87176;REN87177;REN87178;REN87179;REN87180;REN87181;REN87182;REN87183;REN87184;REN87185;REN87186;REN87187;REN87188;REN87189;REN87190;REN87191;REN87192;REN87193;REN87194;REN87195;REN87196;REN87197;REN87198;REN87199;REN87200;REN87201;REN87202;REN87203;REN87204;REN87205;REN87206;REN87207;REN87208;REN87209;REN87210;REN87211;REN87212;REN87213;REN87214;REN87215;REN87216;REN87217;REN87218;REN87219;REN87220;REN87221;REN87222;REN87223;REN87224;REN87225;REN87226;RH93444;STS-N98935;stSG607539;stSG607540;stSG607541;stSG607542;stSG607543;stSG607544;stSG607545;stSG607546;stSG607547;stSG607548;stSG607549;stSG607550 ATPO;OSCP ATP synthase subunit O, mitochondrial;OTTHUMP00000067745;human ATP synthase OSCP subunit;oligomycin sensitivity conferral protein;oligomycin sensitivity conferring protein APPROVED protein-coding ENSG00000241837 HGNC:850 02899 600828 REVIEWED 1343474 ATP5S ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 14 14 14 q21.3 30646177 30660090 + 50778256 50802359 + 50311539 50326715 + 1580863;6480464;8554872 11744738;12471886;12477932;12628343;12745923;14749816;16344560;16806233;20877624;24347629;6143319;8619474;9110174;9461222;9834036 27109 G3V446;Q8WXQ4;Q99766 ABBA01018131;ABBA01018132;AF052186;AF390029;AK290008;AL359397;AMYH02029168;AY052377;BC011549;BC087851;BG699167;BI755956;BU189283;CD517203;CH471078;DA033027;NM_001003803;NM_001003805;NM_015684;NR_033761;U79253;XM_005267537;XM_005267538;XM_005267539;XR_245682 AAB50202;AAH11549;AAL13058;AAL58839;BAF82697;EAW65718;EAW65719;EAW65720;EAW65721;EAW65722;EAW65723;NP_001003803;NP_001003805;NP_056499;Q99766;XP_005267594;XP_005267595;XP_005267596 Hs.438489 1676696;1677959;1736394;2110271;2159299;5093390 ATP5S_9524;D14S654E;G32690;RH40006;RH71262;RH99086 ATPW;FB;HSU79253 ATP synthase coupling factor B, mitochondrial;ATP synthase coupling factor B-like 1;ATP synthase subunit s, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B);ATP synthase-coupling factor B;OTTHUMP00000244611;OTTHUMP00000244612;OTTHUMP00000244614;mitochondrial ATP synthase regulatory component factor B APPROVED protein-coding ENSG00000125375 HGNC:18799 12503 REVIEWED 1605674 ATP5SL ATP5S-like FOUND IN mitochondrion (inferred); INTERACTS WITH paracetamol; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.2 38737074 38745696 - 41937223 41945843 - 41431318 41439938 - 6480464 12477932;14702039;16344560;20877624;20881960;21682944;23065704 55101 B4DFT4;K7EIV4;K7ESN5;M0QX81;M0QZC4;M0QZP7;M0R078;Q9NW81 ABBA01040809;AC011526;AK001103;AK055565;AK123631;AK293132;AK294249;AK297698;AK298197;AK301940;AK316313;AMYH02036134;BC013323;BQ072604;CH471126;DA075924;DA703197;NM_001167867;NM_001167868;NM_001167869;NM_001167870;NM_001167871;NM_018035;NR_030765;XM_006723258 AAH13323;ADZ15772;BAA91503;BAG56681;BAG57545;BAG60056;BAG60467;BAG63360;BAH14684;EAW57042;EAW57043;EAW57044;EAW57045;NP_001161339;NP_001161340;NP_001161341;NP_001161342;NP_001161343;NP_060505;Q9NW81;XP_006723321 Hs.351099 1854126;2136320;2142506;2142508;2156652;5022651 A005U20;D11S2921;G20507;IB1022;RH35849;SHGC-24398 FLJ10241;FLJ31003;FLJ60315 ATP synthase subunit s-like protein protein-coding ENSG00000105341 HGNC:25496 07655 VALIDATED 1346001 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008] X X X p11.4 44580390 44606072 + 40440141 40465889 + 40580964 40606637 + 1580863;5132617;6480464;7240710;8554872;8699517 18376005 10931946;11590366;11782983;12045255;12477932;15489334;15746149;16303743;16374430;16401765;16807542;17082479;17494887;18698213;19056867;19131936;19513539;19580809;19615732;19641301;19733264;20093472;20385187;20702505;20927107;21103663;21139048;21228785;21270819;21316680;21346687;21420935;21890473;21906983;21963094;21997900;22025376;22407459;22684035;22721990;22810585;22884881;22930161;23000965;23045457;23111329;23277024;23555874;23595882;23673200;24218434;24223829;24400720;24472541;9556572 10159 B7Z1I9;B7Z413;B7Z9I3;H0Y750;H7C240;H7C3E1;O75787 ABBA01046796;ABBA01046797;AC092473;AF109363;AF248966;AF291814;AF354120;AK075382;AK293510;AK296614;AK297007;AK297760;AK314633;AK315948;AL049929;AMYH02039192;AY038990;AY429341;BC010395;BC084541;CH471141;NG_008874;NM_005765;Y17975 AAG44564;AAH10395;AAH84541;AAK83467;AAL11062;AAM47531;AAQ13511;AAR06910;BAC11582;BAH11525;BAH12399;BAH12473;BAH12660;BAH14319;CAA76984;CAB43210;EAW59424;NP_005756;O75787 Hs.495960 1334674;1336817;1336934;1338420;1674470;2140079;2178297;7187613 DXS1069;DXS8085;DXS8090;DXS8102;RH169;SHGC-31934;WI-21507 APT6M8-9;ATP6IP2;ATP6M8-9;ELDF10;HT028;M8-9;MGC99577;MRXE;MRXSH;MSTP009;N14F;PRR;RENR;XMRE;XPDS ATPase H(+)-transporting lysosomal-interacting protein 2;ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9;ATPase, H+ transporting, lysosomal interacting protein 2;ER-localized type I transmembrane adaptor;OTTHUMP00000025770;OTTHUMP00000025771;OTTHUMP00000025773;OTTHUMP00000025774;V-ATPase M8.9 subunit;embryonic liver differentiation factor 10;prorenin receptor;renin receptor;renin/prorenin receptor;vacuolar ATP synthase membrane sector-associated protein M8-9;vacuolar proton ATP synthase membrane sector associated protein M8-9 APPROVED protein-coding ENSG00000182220 HGNC:18305 06454 300423;300556;300911 REVIEWED 1605737 ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21 37266849 37330552 + 40610862 40674597 + 42458844 42522579 + 6480464;6907045;8554872 10221984;10224039;10340843;10440860;11836511;12477932;12643545;12649290;12788495;14580332;14597263;15489334;1704894;17081065;17360703;17662945;18029348;18187620;18505059;19056867;20038947;21139048;21558123;21674799;21890473;21906983;21963094;21988832;22708544;22939629;23000965;24072707;2874839;7774924;8125298;9210392;9442887 535 B7Z2A9;B7Z641;F5H1T6;K7ELZ6;K7EM24;K7EN36;K7ENA1;K7EPG4;K7EQW2;K7ERA0;K7ERA6;Q53ET5;Q53X12;Q5CZH6;Q93050 ABBA01006422;ABBA01006423;AC067852;AC107993;AK223554;AK294512;AK294789;AK295682;AK299784;AK316305;AL096733;AL137683;AMYH02033430;BC032398;BX648978;CH471152;CR627443;L78933;NM_001130020;NM_001130021;NM_005177;U18920;XM_005257459;XM_005257461;XM_005257463;Z71460 AAA69700;AAH32398;AAL77442;BAD97274;BAH11795;BAH11885;BAH12153;BAH13127;BAH14676;CAA96077;CAB70874;CAH10528;CAI56709;EAW60830;EAW60831;NP_001123492;NP_001123493;NP_005168;Q93050;XP_005257516;XP_005257518;XP_005257520 Hs.463074 1688273;1769330;1795406;2136195 2194;ATP6V0A1_708;D17S1365E;RH92453 ATP6N1;ATP6N1A;DKFZp781J1951;Stv1;VPP1;Vph1;a1 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD);ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD);H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1;V-ATPase 116 kDa;V-type proton ATPase 116 kDa subunit a;V-type proton ATPase 116 kDa subunit a isoform 1;clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit;vacuolar adenosine triphosphatase subunit Ac116;vacuolar proton pump subunit 1;vacuolar proton pump, subunit 1;vacuolar proton translocating ATPase 116 kDa subunit A;vacuolar-type H(+)-ATPase 115 kDa subunit APPROVED protein-coding ENSG00000033627 HGNC:865 01886 192130 REVIEWED 1603596 ATP6AP1L ATPase, H+ transporting, lysosomal accessory protein 1-like ENCODES a protein that exhibits proton-transporting ATP synthase activity, rotational mechanism (inferred); proton-transporting ATPase activity, rotational mechanism (inferred); INVOLVED IN ATP hydrolysis coupled proton transport (inferred); FOUND IN integral component of membrane (inferred); proton-transporting V-type ATPase, V1 domain (inferred); INTERACTS WITH (+)-catechin; copper atom; copper(0) 5 5 5 q14.2 77506144 77519126 + 81601166 81614147 + 82305347 82318328 + 6480464 12477932;14702039 92270 Q52LC2 ABBA01062071;AC010598;AC026698;AK022625;AK094973;AK123303;AMYH02011696;AMYH02011697;BC093982;BC112191;BC132947;BC132949;CH471084;NM_001017971;XR_108587;XR_112744;XR_171513;XR_249810;XR_427737 AAH93982;AAI12192;EAW95889;EAW95890;NP_001017971;Q52LC2 Hs.729805 1849644;5037552 D8S2279;G09812 MGC138396 V-type proton ATPase subunit S1-like protein;vacuolar proton pump subunit S1-like protein protein-coding ENSG00000205464 HGNC:28091 18710 VALIDATED 1317997 ATP6V0B ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 1 1 1 p32.3 42724136 42727506 + 44440118 44443972 + 43974446 43978300 + 1580863;6480464;6907045 10221984;10224039;10340843;10440860;11836511;12477932;12788495;12890556;14580332;14597263;15123239;15249206;15489334;17576770;17662945;19460752;21988832;23864651;9210392;9442887;9653649 533 E9PKB6;E9PMR1;E9PNL3;E9PNU0;H0YCC5;Q99437 AB045777;ABBA01050936;AI439545;AL357079;AMYH02000910;BC000423;BC005876;BC042664;BC053601;BG475609;BG831921;BI770034;BP250477;BT007151;CH471059;CR456972;D89052;L05089;NM_001039457;NM_001294333;NM_004047;XM_005270944 AAC15853;AAH00423;AAH05876;AAP35815;BAA13753;BAC02927;CAG33253;EAX07066;EAX07067;EAX07068;EAX07069;NP_001034546;NP_001281262;NP_004038;Q99437;XP_005271001 Hs.596514 1680619;1695000;1730267;2124550;7184711;7187617 D1S280E;G44713;HSCZOA042;RH67811 ATP6F;HATPL;VMA16 ATPase, H+ transporting, lysosomal, 21-KD, V0 subunit C-prime, prime;ATPase, H+ transporting, lysosomal, subunit F;H(+)-transporting two-sector ATPase, subunit F;OTTHUMP00000010012;OTTHUMP00000231252;OTTHUMP00000231253;OTTHUMP00000231254;OTTHUMP00000231257;V-ATPase 21 kDa proteolipid subunit;V-ATPase subunit c'';V-type proton ATPase 21 kDa proteolipid subunit;vacuolar ATP synthase 21 kDa proteolipid subunit;vacuolar proton pump 21 kDa proteolipid subunit;vacuolar proton pump, 21 kDa subunit APPROVED protein-coding ENSG00000117410 HGNC:861 04759 603717 REVIEWED 733467 ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013] X X X q28 153818024 153825908 + 153656978 153664862 + 154428632 154436517 + 1300048;1580863;6480464;6907045 10221984;10224039;10336633;10340843;10440860;11076863;11923311;11983866;12477932;14702039;15489334;15489336;16169070;16196087;16303743;16344560;16381901;17290355;19056867;19246570;19913121;20628086;21139048;21622230;21906983;21963094;21987572;21988832;22044156;22268729;22505724;22810585;22939629;23284715;8034313;8248200;8281148;8733135;9210392;9442887 537 A6NLC6;A6QRJ1;F2Z3L8;H7C0T7;H7C2Y8;Q15904 ABBA01045278;ABBA01045279;ABBA01045280;ABBA01045281;ABBA01045282;ABBA01045283;AC244090;AK026519;AK075284;AK090462;AK091083;AK130616;AK289452;AK301603;AL136851;BC000724;BC109247;BX461330;BX936347;BX936385;CH471172;D16469;DA921677;DB569252;NM_001183;X87195 AAH00724;ABM83065;ABM86259;BAA03938;BAC03443;BAC11520;BAF82141;BAG52282;BAG63090;CAB66785;CAL37445;CAL38190;CAL38747;EAW72712;EAW72713;EAW72714;EAW72715;NP_001174;Q15904 Hs.633817;Hs.6551 1657750;1665745;1667649;1702278;1703114;1748063;1748065;1787972;1787974;1787976;1787978;1799974;1800456;1800500;1800740;1801122;1802538;1803456;1803870;1806942;1807752;1807754;1808018;1810544;1811570;1812090;1812162;1812364;1812436;1812628;1813168;1813966;1816458;1817284;1817662;1817984;1825204;1831038;1833682;1839912;1844382;1844522;1844912;1845378;2037022;2037024;2037026;2037028;2037030;2037032;2037034;2037036;2037038;2037040;2037042;2037044;2037046;2037048;2037050;2037052;2037054;2037056;2037058;2037060;2037062;2037064;2037066;2037068;2037070;2037072;2037074;2037076;2037078;2037080;2037082;2037084;2037086;2037088;2037090;2037092;2037094;2037096;2037098;2037100;2037102;2037104;2037106;2037118;2037120;2037122;2037126;2037128;2037130;2037132;2037134;2037136;2037140;2037142;2037144;2037146;2037148;2037150;2037152;2037154;2037156;2037160;2037162;2037164;2037166;2037168;2037170;2037180;2037182;2037184;2037186;2037190;2037192;2037194;2037196;2037198;2037200;2037202;2037204;2037206;2037208;2037212;2037214;2037218;2037222;2037234;2037236;2037238;2037240;2037242;2037244;2037246;2037248;2037250;2037252;2037254;2037256;2037258;2037260;2037262;2037264;2037276;2037278;2037280;2037282;2037284;2037286;2037288;2037290;2037292;2037294;2037296;2037298;2037300;2037302;2037304;2037306;2037308;2037310;2037312;2037314;2037318;2037320;2037322;2037324;2037326;2037328;2037330;2037332;2102536;2102538;2102540;2102542;2102548;2102550;2102552;2102554;2102556;2102562;2102564;2102566;2107147;2148947;2176605;2178179;2190599;2219020;5021048 ATP6AP1__4395;DXS7072;DXS7587;DXS9771;ECD00841;ECD01088;ECD01110;ECD01231;ECD01433;ECD02155;ECD02625;ECD02847;ECD04436;ECD04849;ECD04850;ECD04987;ECD06265;ECD06788;ECD07050;ECD07086;ECD07189;ECD07225;ECD07324;ECD07603;ECD08010;ECD09271;ECD09692;ECD09883;ECD10047;ECD13703;ECD16655;ECD17986;ECD21139;ECD23405;ECD23475;ECD23672;ECD23906;G65808;G65809;G67208;G67209;G67210;G67211;GDI1;GDI1__6799;REN89522;REN89523;REN89524;REN89525;REN89526;REN89527;REN89528;REN89529;REN89530;REN89531;REN89532;REN89533;REN89534;REN89535;REN89536;REN89537;REN89538;REN89539;REN89540;REN89541;REN89542;REN89543;REN89544;REN89545;REN89546;REN89547;REN89548;REN89549;REN89550;REN89551;REN89552;REN89553;REN89554;REN89555;REN89556;REN89557;REN89558;REN89559;REN89560;REN89561;REN89562;REN89563;REN89564;REN89570;REN89571;REN89572;REN89574;REN89575;REN89576;REN89577;REN89578;REN89579;REN89581;REN89582;REN89583;REN89584;REN89585;REN89586;REN89587;REN89588;REN89589;REN89591;REN89592;REN89593;REN89594;REN89595;REN89596;REN89601;REN89602;REN89603;REN89604;REN89606;REN89607;REN89608;REN89609;REN89610;REN89611;REN89612;REN89613;REN89614;REN89615;REN89617;REN89618;REN89620;REN89622;REN89628;REN89629;REN89630;REN89631;REN89632;REN89633;REN89634;REN89635;REN89636;REN89637;REN89638;REN89639;REN89640;REN89641;REN89642;REN89643;REN89649;REN89650;REN89651;REN89652;REN89653;REN89654;REN89655;REN89656;REN89657;REN89658;REN89659;REN89660;REN89661;REN89662;REN89663;REN89664;REN89665;REN89666;REN89667;REN89668;REN89670;REN89671;REN89672;REN89673;REN89674;REN89675;REN89676;REN89677;RH68908;RH77733;SGC34656;STS-M78866;WI-9327;sWXD2362;stSG604043;stSG604044;stSG604045;stSG604046;stSG604053;stSG604055;stSG604056;stSG604057;stSG604058;stSG604062;stSG604067;stSG604068 16A;ATP6IP1;ATP6S1;Ac45;CF2;MGC129781;VATPS1;XAP-3;XAP3 ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1;ATPase, H+ transporting, lysosomal interacting protein 1;H-ATPase subunit;OTTHUMP00000032115;OTTHUMP00000196463;V-ATPase Ac45 subunit;V-ATPase S1 accessory protein;V-ATPase subunit S1;V-type proton ATPase subunit S1;vacuolar proton pump subunit S1 APPROVED protein-coding ENSG00000071553 HGNC:868 02184 300197 REVIEWED 1320849 ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] 12 12 12 q24.31 123793121 123842693 + 124196865 124246302 + 123712318 123761755 + 1580863;6480464;6907045;7240710;8554872;8699517 11836511;12477932;12788495;14580332;14597263;14702039;15301855;15358640;15373763;16027165;16113235;16344560;16415858;17081983;17295899;17662945;17897319;18029348;18157129;19171192;19321599;19322201;19401719;20153292;20301755;20669186;21139048;21178005;21890473;21906983;21963094;22053931;2247090;22479202;22773132;22939629;23000965;23936208;24816145;2874839 23545 F5GX48;F5H5F3;F5H847;Q9Y487 ABBA01060393;ABBA01060394;AC117503;AF112972;AK056800;AK289391;AK298778;AMYH02027458;AMYH02027459;BC000826;BC022300;BC068531;BG106215;BG167832;BG759946;BI562012;BQ050095;BX328381;CB960860;CD654920;CH471054;DA737084;NG_012743;NM_012463;R51339;XM_005253563;XM_006719317;XM_006719318;XR_429088 AAD04632;AAH22300;AAH68531;ADR82758;BAF82080;BAG60919;EAW98434;EAW98436;NP_036595;Q9Y487;XP_005253620;XP_006719380;XP_006719381 Hs.25786 1665887;1691168;2106779;5022578 D1S1423;GC24S19;RH92322;WI-13960 A2;ARCL;ARCL2A;ATP6A2;ATP6N1D;J6B7;RTF;STV1;TJ6;TJ6M;TJ6S;VPH1;WSS A2V-ATPase;OTTHUMP00000239279;V-type proton ATPase 116 kDa subunit a isoform 2;lysosomal H(+)-transporting ATPase V0 subunit a2;regeneration and tolerance factor;v-ATPase 116 kDa;v-type proton ATPase 116 kDa subunit a;vacuolar proton translocating ATPase 116 kDa subunit a APPROVED protein-coding ENSG00000185344 HGNC:18481 16521 219200;278250;611716 REVIEWED 1312856 ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008] 7 7 7 q34 133128799 133220749 - 138391039 138484305 - 138706294 138799560 - 1599383;1580863;6480464;6907045;7240710;8554872;8699517 10973252 10221984;10224039;10340843;10440860;10577919;10600682;11836511;12414817;12477932;12649290;12690205;12788495;14580332;14597263;14638902;14675051;14702039;15800125;16344560;17360703;17662945;17897319;18632794;19056867;19366680;19639346;20221774;20379614;21326311;21963094;22093743;22460948;22854161;23729491;24072707;24252324;2874839;9210392;9442887 50617 Q96N91;Q9HBG4 ABBA01001173;ABBA01001174;ABBA01001175;ABBA01001176;ABBA01001177;ABBA01001178;ABBA01001179;AC018663;AC020983;AF245517;AF249874;AK055789;AK292945;AMYH02016871;AMYH02016872;AMYH02016873;AMYH02016874;BC109304;BC109305;CH236950;CH471070;DA857655;DB230144;HI574138;HI574140;HI574142;NG_008145;NM_020632;NM_130840;NM_130841;XM_005250393;XM_005250394 AAG11415;AAI09305;AAI09306;BAB71014;BAF85634;CBX47558;CBX47559;CBX47560;EAL24043;EAW83892;EAW83893;EAW83894;EAW83895;EAW83896;EAW83897;NP_065683;NP_570855;NP_570856;Q9HBG4;XP_005250450;XP_005250451 Hs.98967 1679756;1789474;1789540;2144771;2183540 D7S1636;D7S3183;D7S3193;GDB:1317754;RH92345 A4;ATP6N1B;ATP6N2;MGC130016;MGC130017;RDRTA2;RTA1C;RTADR;STV1;VPH1;VPP2 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B;ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD);H(+)-transporting two-sector ATPase, noncatalytic accessory protein 1B;OTTHUMP00000211501;OTTHUMP00000211502;V-ATPase 116 kDa;V-type proton ATPase 116 kDa subunit a;V-type proton ATPase 116 kDa subunit a isoform 4;vacuolar proton pump 116 kDa accessory subunit;vacuolar proton pump, subunit 2;vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform APPROVED protein-coding ENSG00000105929 HGNC:866 05576 602722;605239 REVIEWED 1347369 ATP6V0CP1 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 1 17 17 17 p13.2 4775149 4775581 - 4759757 4760694 - 4856462 4857399 - 100132978 ABBA01054777;AC109333;AC233723;AMYH02032835;NG_009542;NG_028005 ATCD1 APPROVED pseudo HGNC:31323 INFERRED 1315777 ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 ENCODES a protein that exhibits hydrogen ion transmembrane transporter activity (inferred); INVOLVED IN ATP hydrolysis coupled proton transport (inferred); cellular iron ion homeostasis (inferred); insulin receptor signaling pathway (inferred); PARTICIPATES IN Mycobacterium tuberculosis infection pathway; oxidative phosphorylation pathway; rheumatoid arthritis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN apical plasma membrane; extracellular vesicular exosome; membrane; INTERACTS WITH 3,4-dichloroaniline; cis-caffeic acid; copper atom 8 8 8 83305507 83360717 + 87111139 87166454 + 86098910 86154225 + 1300048;1580863;6480464;6907045;8554872 11836511;12384298;12477932;12788495;14580332;14597263;14702039;15800125;17662945;18752060;19056867;19818731;21988832;22379998;2874839 245972 E5RHJ7;E5RIR3;Q8N8Y2 ABBA01037356;AC023194;AC084128;AK096027;AMYH02018356;AMYH02018357;AY079172;BC065207;CH471060;NM_152565 AAH65207;AAL87000;BAC04679;EAW91631;EAW91632;NP_689778;Q8N8Y2 Hs.436360 2110273;5017643 ATP6V0D2;ATP6V0D2__4396 ATP6D2;FLJ38708;VMA6 OTTHUMP00000224495;V-ATPase subunit d 2;V-type proton ATPase subunit d 2;atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 2;vacuolar proton pump subunit d 2 protein-coding ENSG00000147614 HGNC:18266 16522 VALIDATED 6480947 ATP6V0E1P1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 1 5 5 132284185 132284407 + 132948493 132948715 + 100874502 ABBA01068792;AC010240;AMYH02012220;NG_032378 pseudo HGNC:41935 INFERRED 5131597 ATP6V0CP3 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 3 6 6 6 p21.1 44247224 44248184 + 42695314 42695932 + 42727576 42728194 + 442211 ABBA01050724;AL049843;AMYH02013625;BQ447003;NR_037141 Hs.563394 1850979 RH66735 pseudo HGNC:40001 VALIDATED 731892 ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010] 16 16 16 p13.3 2755525 2785155 + 2563727 2570224 + 2513726 2520223 + 1300048;1580863;6480464;6907045 10221984;10224039;10340843;10440860;11543633;11836511;12438748;12477932;12788495;14580332;14597263;1532310;15466867;15489334;16169070;16415858;16751776;1709739;17662945;17897319;18298843;18854154;19056867;19058789;19299075;19875448;21087195;21433058;21988832;22829766;22991218;24166050;24385903;24623842;2874839;7636472;8250920;8741845;9210392;9442887 527 H3BMY0;H3BNI4;P27449 AB046575;ABBA01030251;AC093525;AMYH02031253;AW161158;BC004537;BC007389;BC007759;BC009290;BI548787;BT007155;CH471112;CR541930;CR541951;M62762;NM_001198569;NM_001694 AAA60039;AAH04537;AAH07389;AAH07759;AAH09290;AAP35819;ADZ15776;ADZ15795;BAC06442;CAG46728;CAG46749;EAW85501;NP_001185498;NP_001685;P27449 Hs.389107 1729612;1729614;1740165;1748611;1768279;1772891;1850979;2172544;2182296;5126656 A009J05;D16S283;D16S284;D16S3014;RH66407;RH66735;RH69157;SHGC-110273;SHGC-32888;SHGC-60646 ATP6C;ATP6L;ATPL;VATL;VPPC;Vma3 H(+)-transporting two-sector ATPase, 16 kDa subunit;OTTHUMP00000159089;V-ATPase 16 kDa proteolipid subunit;V-ATPase subunit c;V-type proton ATPase 16 kDa proteolipid subunit;vacuolar ATP synthase 16 kDa proteolipid subunit;vacuolar H+ ATPase proton channel subunit;vacuolar proton pump 16 kDa proteolipid subunit;vacuolar proton pump, 16 kDa subunit APPROVED protein-coding ENSG00000185883 HGNC:855 00162 108745 REVIEWED 6480944 ATP6V0E1P2 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 2 3 3 41900845 41901084 - 41859353 41859592 - 100874503 ABBA01024779;AC104305;AMYH02006615;NG_032379 pseudo HGNC:41936 INFERRED 1314615 ATP6V0D1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51980121 52023291 - 67471917 67515089 - 67438014 67481186 - 1300048;6480464;6907045;8554872 10221984;10224039;10340843;10440860;11118322;11836511;12477932;12788495;14580332;14597263;14702039;15489334;16196087;16713569;17662945;17897319;18752060;19056867;19165527;19285986;19913121;20628086;21139048;21674799;21890473;21906983;21963094;21987572;22505724;22939629;22990118;23125841;24250222;24332808;2874839;2903164;8250920;8889548;9210392;9442887 9114 F5GYQ1;F8WEN9;H3BPS0;H3BQB4;H3BQJ1;H3BSG7;H3BTB4;H3BTB5;H3BUQ0;J3QL14;P61421;R4GN72 ABBA01025437;ABBA01025438;AC009061;AK125522;AK128641;AK300570;AK301630;AK313035;AMYH02032232;BC008861;BI552108;BM677562;CH471092;L05087;NG_011482;NM_004691;X71490 AAC15852;AAH08861;ABM84196;ABM87600;BAG35868;BAH13305;BAH13524;CAA50591;EAW83135;EAW83136;NP_004682;P61421 Hs.106876 1655578;1678361;1794062;1794466;1794468;5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2279;PMC310777P2;PMC314306P7;PMC314306P8;RH11782;RH65050 ATP6D;ATP6DV;FLJ43534;P39;VATX;VMA6;VPATPD 32 kDa accessory protein;ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D;H(+)-transporting two-sector ATPase, subunit D;OTTHUMP00000174810;V-ATPase 40 KDa accessory protein;V-ATPase AC39 subunit;V-ATPase subunit d 1;V-ATPase, subunit D;V-type proton ATPase subunit d 1;atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 1;vacuolar proton pump subunit d 1 APPROVED protein-coding ENSG00000159720 HGNC:13724 06121 607028 REVIEWED 5132555 ATP6V0E1P3 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 3 2 2 2 p22.3 33665810 33666054 + 33827050 33827852 + 33601983 33602785 + 100133262 ABBA01074909;AC017050;AMYH02003570;NG_029004 pseudo HGNC:41937 INFERRED 6480943 ATP6V0E1P4 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 4 1 1 48015868 48016422 + 47550196 47550750 + 100874504 ABBA01050816;AL356458;AMYH02000973;NG_032380 pseudo HGNC:41938 INFERRED 1604142 ATP6V0E2-AS1 ATP6V0E2 antisense RNA 1 INTERACTS WITH all-trans-retinoic acid; atrazine 7 7 7 q36.1 144233999 144240162 - 149564783 149570951 - 149867694 149873862 - 6480464 12477932;12690205;16344560 401431 AACC02000041;ABBA01033639;AC004877;AC093458;AMYH02017055;AW452405;BC023225;BC028735;CH471146;DA083383;HG500726;HG500727;NR_027040 EAL24438;EAW80024 Hs.556998;Hs.744860 1658457;1661539;1676194;1716189;1850653;2135315;2154250;2162741 D7S2075E;D7S2637;GDB:1318310;RH121117;RH48950;RH65674;RH92234;WIAF-1599 RP4-751H13.6 APPROVED ncrna ENSG00000204934 HGNC:44180 17391 VALIDATED 1350958 ATP6V0E1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 168443924 168495366 + 172410763 172461900 + 172983760 173034897 + 1580863;6480464;6907045;8554872 10221984;10224039;10340843;10440860;11836511;12163484;12477932;12788495;14580332;14597263;14970230;15489334;15906478;17350184;17576770;17662945;2874839;9210392;9442887;9556572 8992 E5RHL5;J3KN48;O15342 ABBA01044032;ABBA01044033;ABBA01044034;AC008429;AI198465;AK312068;AMYH02012762;AMYH02012763;AMYH02012764;BC119714;BC119715;BF691381;CH471062;CR456856;CR542131;NM_003945;Y15286 AAI19715;AAI19716;BAG35004;CAA75571;CAG33137;CAG46928;EAW61417;EAW61418;NP_003936;O15342 Hs.484188 1338235;1725815;2153864;2179618;2181528 D1S2666;G61995;L28302;RH47638;STS-H56007 ATP6H;ATP6V0E;M9.2;Vma21;Vma21p H(+)-transporting two-sector ATPase, subunit H;OTTHUMP00000161073;OTTHUMP00000223525;V-ATPase 9.2 kDa membrane accessory protein;V-ATPase H subunit;V-ATPase M9.2 subunit;V-ATPase subunit e 1;V-type proton ATPase subunit e 1;vacuolar ATP synthase subunit H;vacuolar proton pump H subunit;vacuolar proton pump subunit e 1;vacuolar proton-ATPase subunit M9.2 APPROVED protein-coding HGNC:863 04894 603931 REVIEWED 1321627 ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008] 2 2 2 p13.1 71013684 71043243 + 71162998 71192561 + 70935868 70965431 + 1580863;1599372;6480464;6907045;8699517;8554872 9916796 10221984;10224039;10340843;10440860;10748165;10915794;11836511;12414817;12477932;12500243;12579397;12651853;12788495;14580332;14585495;14597263;14702039;16344560;16433694;16928804;17216496;17662945;18180394;19008710;19056867;19478356;19639346;19913121;20233014;20622307;20628086;20805693;21674799;22509993;22939629;23455924;23729491;23923981;24252324;24816145;2527371;2874839;7945239;8125298;8597961;8849440;8889548;9210392;9442887 525 C9J5E3;C9JL73;C9JNS9;C9JTN0;C9JZ02;P15313 ABBA01075545;AC007040;AK127853;AK223151;AK291121;AK301542;AK313194;AMYH02004046;AMYH02004047;AU126647;BC035978;BC063411;CA944873;CH471053;DA845716;M25809;NG_008016;NM_001692;XM_005264368 AAA36498;AAH63411;BAD96871;BAF83810;BAG36011;BAG63039;EAW99790;EAW99791;NP_001683;P15313;XP_005264425 Hs.64173 1779084;2148892;2189427 MARC_5799-5800:991939724:4;SHGC-14337;STS-AA019900 ATP6B1;MGC32642;RTA1B;VATB;VMA2;VPP3 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness);H(+)-transporting two-sector ATPase, 58kD subunit;H+-ATPase beta 1 subunit;OTTHUMP00000160125;OTTHUMP00000204311;V-ATPase B1 subunit;V-ATPase subunit B 1;V-type proton ATPase subunit B, kidney isoform;atpase, h+ transporting, lysosomal 56/58kda, v1 subunit b, isoform 1 (renal tubular acidosis with deafness);endomembrane proton pump 58 kDa subunit;vacuolar proton pump 3;vacuolar proton pump subunit B 1;vacuolar proton pump, subunit 3 APPROVED protein-coding ENSG00000116039 HGNC:853 01887 192132 REVIEWED 1323585 ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008] 3 3 3 q13.31 111874398 111939560 + 113465866 113530905 + 113747019 113812058 + 1580863;6480464;6907045;8554872 10221984;10224039;10340843;10440860;10931946;11741979;11836511;11991713;12477932;12788495;14580332;14597263;15489334;15952740;17255364;17576770;17662945;17897319;18781797;19056867;19110265;19322201;19405953;19471022;20717956;21139048;21145461;21674799;21693764;21890473;21900206;21906983;21963094;21987572;22053931;22268729;22505724;22561749;22863883;22939629;23000965;23535732;2874839;7575517;8463241;9210392;9442887 523 C9JA17;C9JVW8;F8WDJ3;P38606 ABBA01061648;ABBA01061649;ABBA01061650;AC079944;AC108693;AF113129;AF339827;AK293804;AK295150;AK314779;AL514316;AMYH02007454;AMYH02007455;BC012169;BC013138;BT006672;CA435314;CH471052;DC350361;L09235;NM_001690 AAA83249;AAF14870;AAH13138;AAP35318;BAG37315;BAH11601;BAH11992;EAW79625;EAW79626;EAW79627;EAW79628;NP_001681;P38606 Hs.477155 1671201;1672133;1705310;1735280;2124331;5022450;5037552;5092796 A006E45;D10S275;D3S2929E;D8S2279;G32335;SHGC-77211;SHGC-78613;STS-H75776 ATP6A1;ATP6V1A1;HO68;VA68;VPP2;Vma1 ATPase, H+ transporting, lysosomal, subunit A1;H(+)-transporting two-sector ATPase, subunit A;H+-transporting ATPase chain A, vacuolar (VA68 type);OTTHUMP00000214746;V-ATPase 69 kDa subunit 1;V-ATPase A subunit 1;V-ATPase subunit A;V-type proton ATPase catalytic subunit A;vacuolar ATP synthase catalytic subunit A, ubiquitous isoform;vacuolar ATPase isoform VA68;vacuolar proton pump alpha subunit 1;vacuolar proton pump subunit alpha APPROVED protein-coding ENSG00000114573 HGNC:851 06120 607027 REVIEWED 1606137 ATP6V0E2 ATPase, H+ transporting V0 subunit e2 Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008] 7 7 7 q36.1 144239268 144246884 + 149570053 149577787 + 149872964 149880698 + 6480464;6907045;8554872 12477932;14702039;16303743;17350184;17662945;24250222;2874839;9847074 155066 E9PAS2;F8WDM2;Q8NHE4 AA912295;ABBA01033639;ABBA01033640;AC093458;AF452639;AK057700;AK094602;AK098362;AK172725;AK290086;AMYH02017055;AY037164;BC015899;BE677432;BX640846;CH471146;DB544557;DQ989009;DQ995344;NM_001100592;NM_001289990;NM_145230;NR_110612;XM_005249958 AAK67647;AAP97693;AAQ96859;ABK76305;ABK88279;BAC05292;BAF82775;CAE45916;EAW80020;EAW80021;EAW80022;EAW80023;NP_001094062;NP_001276919;NP_660265;Q8NHE4;XP_005250015 Hs.556998 1661539;1770532;1790539;1850117 A002C21;GDB:1318310;HSC185_(GAP_113_G);WI-15316 ATP6V0E2L;C7orf32 ATPase, H+ transporting V0 subunit E isoform 2-like;ATPase, H+ transporting V0 subunit E2-like;H+-ATPase e2 subunit;OTTHUMP00000212608;OTTHUMP00000212609;OTTHUMP00000212610;OTTHUMP00000212611;V-ATPase subunit e 2;V-type proton ATPase subunit e 2;lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2;vacuolar proton pump subunit e 2;vacuolar proton-ATPase subunit APPROVED protein-coding ENSG00000171130 HGNC:21723 12920 611019 VALIDATED 1354342 ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008] 2 2 2 10777001 10840382 + 10861775 10925236 + 10721649 10785110 + 1580863;6480464;6907045;8554872 11836511;12384298;12477932;12788495;14580332;14597263;15203218;16042619;16344560;17662945;17897319;19056867;20379614;23247143;2874839 245973 Q8NEY4 ABBA01015627;ABBA01015628;ABBA01015629;ABBA01015630;ABBA01015631;AC092687;AK127836;AK292952;AMYH02003273;AY039759;BC012142;BX358022;CD636943;CH471053;DB230703;NM_001039362;NM_144583;XR_426949 AAH12142;AAK83464;AAY24069;ABM83181;ABW03480;BAF85641;EAX00951;EAX00952;NP_001034451;NP_653184;Q8NEY4 Hs.580464 2156296;2160682;2163822;2166235;2178708;5113908 G30227;RH11818;RH70399;RH94195;SGC31703;WI-18107 ATP6C2;VMA5 OTTHUMP00000115522;OTTHUMP00000200400;V-ATPase C2 subunit;V-ATPase subunit C 2;V-type proton ATPase subunit C 2;atpase, h+ transporting, lysosomal 42kda, v1 subunit c isoform 2;vacuolar proton pump subunit C 2 APPROVED protein-coding ENSG00000143882 HGNC:18264 16523 REVIEWED 1348353 ATP6V1D ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008] 14 14 14 q23-q24.2 47863642 47885645 - 67804581 67826720 - 67337864 67360003 - 1580863;6480464;6907045 10221984;10224039;10340843;10440860;10931946;11435709;11836511;11913976;12477932;12788495;14580332;14597263;14702039;15489334;16344560;17207965;17662945;17897319;18752060;19056867;19913121;20628086;21139048;21674799;22939629;24250222;24816145;2874839;8889548;9210392;9442887 51382 G3V2S6;G3V2V6;G3V341;G3V3T8;G3V559;G3V5S7;H0YJ55;H0YJH8;H0YJS0;Q9Y5K8 ABBA01023713;AF077614;AF100741;AF104629;AF145316;AK001155;AK315784;AL139785;AMYH02029399;BC001411;BC025373;BC031002;BF669634;BG236185;BU726615;CH471061;DB039102;NM_015994 AAD33953;AAD40384;AAG30726;AAG43047;AAH01411;AAH25373;AAH31002;ADQ32056;BAA91523;BAG38130;EAW80931;EAW80932;NP_057078;Q9Y5K8 Hs.272630 1722233;1744205;2152022;2163968;2175730;2178836 A002U41;G36025;G60022;GDB:437525;RH11239;RH48795 ATP6M;VATD;VMA8 ATPase, H+ transporting lysosomal, member M;ATPase, H+ transporting, lysosomal (vacuolar proton pump);H(+)-transporting two-sector ATPase, subunit M;OTTHUMP00000245545;OTTHUMP00000245549;OTTHUMP00000245550;OTTHUMP00000245551;OTTHUMP00000245552;V-ATPase 28 kDa accessory protein;V-ATPase D subunit;V-ATPase subunit D;V-type proton ATPase subunit D;vacuolar ATP synthase subunit D;vacuolar H-ATPase subunit D;vacuolar proton pump D subunit;vacuolar proton pump delta polypeptide;vacuolar proton pump subunit D;vacuolar proton-ATPase subunit D APPROVED protein-coding HGNC:13527 16524 609398 REVIEWED 732120 ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008] 8 8 8 p21.3 19017312 19041815 + 20054704 20079207 + 20197193 20221696 + 1300048;1580863;6480464;6907045 10221984;10224039;10340843;10440860;11836511;12477932;12643545;12670943;12788495;1373501;14580332;14597263;14702039;15489334;17081065;17662945;17897319;18029348;19056867;19738201;20038947;20379614;20381070;20889312;21139048;2145275;21674799;21890473;21906983;22863883;22939629;23398456;23620142;23874603;24816145;2874839;7706273;7945239;9210392;9442887 526 E5RGH6;H0YAT8;H0YC04;H0YC45;P21281 AB208806;ABBA01021549;AC025853;AK127443;AK294163;AK298819;AK312372;AMYH02017570;BC003100;BC007309;BC030640;CH471080;HI574180;L35249;M60346;NM_001693;X62949;Z37165 AAA35610;AAA58661;AAH03100;AAH07309;AAH30640;ABM82763;ABM85949;BAD92043;BAG35290;BAG57486;BAG60951;CAA44721;CAA85522;CBX47579;EAW63758;EAW63759;NP_001684;P21281 Hs.295917 1661966;1723391;1771141;2107867;5114923 ATP6V1B2_8221;D8S1949;RH118507;RH69321;WI-19010 ATP6B1B2;ATP6B2;HO57;VATB;VPP3;Vma2 H+ transporting two-sector ATPase;OTTHUMP00000161707;V-ATPase B2 subunit;V-ATPase subunit B 2;V-type proton ATPase subunit B, brain isoform;atpase, h+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kda, isoform 2;endomembrane proton pump 58 kDa subunit;vacuolar H+-ATPase 56,000 subunit;vacuolar proton pump subunit B 2 APPROVED protein-coding ENSG00000147416 HGNC:854 06088 606939 REVIEWED 8695112 ATP6V1B1-AS1 ATP6V1B1 antisense RNA 1 2 2 p13.3 71169143 71175744 - 70942013 70948611 - 101927750 ABBA01075545;AC007040;AMYH02004046;BM014398;BM464091;HG494193;NG_008016;NR_110273;NR_110274 Hs.676120 ncrna ENSG00000239322 HGNC:51118 VALIDATED 1351681 ATP6V1E1P1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 1 1 1 1 p34.2 41650890 41651570 + 43368903 43369583 + 42903232 42903912 + 343515 ABBA01050970;AC099795;AMYH02000888;NG_016586 1666812;1744395 GDB:452644;WI-15321 ATP6EP1;ATP6V1EP1 APPROVED pseudo HGNC:859 INFERRED 1343908 ATP6V1E1P2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 2 18 18 18 21342328 21342631 - 24532165 24532468 - 26952201 26952504 - 100462844;532 ABBA01022568;AC023575;AMYH02034460;NG_026284;NG_029856 1744373 GDB:452617 ATP6EP2;ATP6V1EP2 APPROVED pseudo HGNC:860 INFERRED 1322350 ATP6V1C1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008] 8 8 8 q22.3 100220060 100272082 + 104033248 104085285 + 103021020 103073057 + 1300048;1580863;6480464;6907045 10221984;10224039;10340843;10440860;11752456;11836511;12477932;12788495;12890556;14580332;14597263;14702039;15489334;16344560;16415858;17207965;17662945;17897319;19056867;20379614;20819778;21139048;2147024;21526910;21674799;21890473;21906983;22863883;22939629;23000965;24250222;2874839;8250920;9210392;9442887 528 E7EV59;P21283 AA242944;ABBA01037628;ABBA01037629;AF363578;AK000064;AK090702;AK298617;AK308632;AL707882;AMYH02018541;AP003550;AU137773;AV649881;AW505309;AX399853;BC010960;BI821321;BX648079;CH471060;J05682;NM_001695;X69151 AAA36803;AAH10960;AAL50383;ACE86916;ACE87603;ADQ31698;BAH12829;CAA48903;CAD33297;EAW91859;EAW91860;NP_001686;P21283 Hs.86905 1778623;2123959;2180290;2181338;2219022 ATP6V1C1__4398;D8S1610;RH78580;SHGC-2582;STS-N33243 ATP6C;ATP6D;FLJ20057;VATC;Vma5 H(+)-transporting two-sector ATPase, subunit C;H+ -ATPase C subunit;H+-transporting ATPase chain C, vacuolar;OTTHUMP00000227403;OTTHUMP00000227404;OTTHUMP00000227405;OTTHUMP00000227406;V-ATPase C subunit;V-ATPase subunit C 1;V-type proton ATPase subunit C 1;subunit C of vacuolar proton-ATPase V1 domain;vacuolar ATP synthase subunit C;vacuolar proton pump C subunit;vacuolar proton pump subunit C 1;vacuolar proton pump, 42-kD subunit;vacuolar proton-ATPase, subunit C, VI domain APPROVED protein-coding ENSG00000155097 HGNC:856 04371 603097 REVIEWED 1348896 ATP6V1E1P3 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 3 12 12 12 q14.2 64397785 64398741 - 64731729 64732685 - 64337949 64338905 - 729435 ABBA01026608;AC135279;AMYH02026662;NG_009357 ATP6EL1;ATP6V1EL1 APPROVED pseudo HGNC:858 INFERRED 1347206 ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008] 22 22 22 q11.1 1694652 1731337 - 18074902 18111588 - 17592136 17628822 - 1580863;6480464;6907045 10221984;10224039;10340843;10440860;10748165;10915794;11381032;11399750;11560919;11836511;12036578;12163484;12477932;12788495;14580332;14597263;14667819;1533641;15489334;16155006;16169070;16196101;17662945;17897319;19056867;21139048;21674799;21832049;21900206;21906983;22395867;22505724;22863883;22939629;24816145;2874839;8004105;8250920;9210392;9405660;9442887 529 C9J8H1;P36543;Q53Y06 ABBA01001440;ABBA01001441;ABBA01001442;ABBA01001443;ABBA01001444;AC004019;AC006285;AC007666;AI565049;AK294623;AK312394;AK315941;AMYH02038007;AMYH02038008;AW406069;BC004443;BE735148;BI546032;BI597419;BQ888820;BT007128;CH471193;CK005516;CR456385;KF457350;NG_009214;NM_001039366;NM_001039367;NM_001696;X71491;X76228 AAH04443;AAP35792;ACE86484;ACE87165;BAG35311;BAG57804;BAH14312;CAA50592;CAA53814;CAG30271;CAK54374;CAK54673;EAW57762;EAW57763;EAW57764;EAW57765;NP_001034455;NP_001034456;NP_001687;P36543 Hs.517338 1666812;1675696;1694628;1744373;1744395;1756533;1779037;2218272;5024384 ATP6V1E1_4399;G43351;GDB:452617;GDB:452644;RH1695;RH79089;SHGC-143563;SHGC-36174;WI-15321 ATP6E;ATP6E2;ATP6V1E;P31;Vma4 H(+)-transporting two-sector ATPase, 31kDa subunit;H+-transporting ATP synthase chain E, vacuolar;OTTHUMP00000065606;OTTHUMP00000196213;OTTHUMP00000214152;OTTHUMP00000214153;V-ATPase 31 kDa subunit;V-ATPase subunit E 1;V-ATPase, subunit E;V-type proton ATPase subunit E 1;vacuolar proton pump subunit E 1 APPROVED protein-coding ENSG00000131100 HGNC:857 00163 108746 REVIEWED 1605148 ATP6V1G1P2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 2 8 8 8 q11.21 44089500 44089846 - 48105626 48105972 - 47194003 47194349 - 100128541 ABBA01018447;AC120036;AMYH02017932;NG_022387 1735824 D8S1428E ATP6V1GP2 APPROVED pseudo HGNC:29359 INFERRED 3051015 ATP6V1G1P3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 3 9 9 9 110188024 110188301 + 139674390 139674667 + 136779938 136780215 + 100462838 ABBA01022721;AL355987;AMYH02021911;NG_021680 pseudo HGNC:37670 INFERRED 1348011 ATP6V1G1P1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 1 14 14 14 q32.33 86181251 86182739 - 106250833 106252309 - 105784496 105785972 - 319116 ABBA01074082;AC244664;AL122127;NG_001019 ATP6V1GP1 APPROVED pseudo HGNC:19816 VALIDATED 1320793 ATP6V1G1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008] 9 9 9 q32 87997647 88008806 + 117349994 117361152 + 114587714 114598872 + 1298632;1580863;6480464;6907045 9653160 10221984;10224039;10340843;10440860;11042152;11836511;12384298;12477932;12788495;14580332;14597263;15489334;16169070;16189514;16751776;17207965;17360703;17662945;17897319;19056867;21139048;21674799;21832049;21988832;22863883;22939629;24250222;24816145;2874839;9210392;9442887 9550 O75348 ABBA01042665;AF038954;AI092246;AL160275;AMYH02021518;AMYH02021519;BC003564;BC008452;BF692207;BI596632;CH471090;CR456971;CR542237;NM_004888 AAC39868;AAH08452;ADQ32411;CAG33252;CAG47033;EAW87424;EAW87425;NP_004879;O75348 Hs.388654 1681544 RH98627 ATP6G;ATP6G1;ATP6GL;ATP6J;DKFZp547P234;Vma10 ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J;OTTHUMP00000022758;V-ATPase 13 kDa subunit 1;V-ATPase subunit G 1;V-type proton ATPase subunit G 1;atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 1;vacuolar ATP synthase subunit M16;vacuolar H(+)-ATPase subunit G 1;vacuolar proton pump subunit G 1;vacuolar proton pump subunit M16 APPROVED protein-coding HGNC:864 06294 607296 REVIEWED 1351850 ATP6V1F ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008] 7 7 7 q32 123299412 123302416 + 128502857 128505903 + 128862803 128865849 + 631896;1580863;6480464;6907045 8621738 10221984;10224039;10340843;10440860;11836511;12477932;12690205;12788495;14580332;14597263;15489334;16169070;17662945;18752060;19056867;19723111;21139048;21890473;21906983;21963094;22053931;22505724;22863883;22939629;24250222;2874839;8012384;8581736;8889548;9210392;9442887 9296 A4D1K0;Q16864 ABBA01057652;AC025594;AK312214;AMYH02016720;BC104230;BC104231;BC107854;BG724326;BU683155;BU956696;CH236950;CH471070;CR456896;D49400;DB499437;NM_001198909;NM_004231;Z55117;Z61564 AAI04231;AAI04232;AAI07855;BAA08392;BAG35147;CAG33177;EAL24110;EAW83692;EAW83693;NP_001185838;NP_004222;Q16864 Hs.78089 1667669;1736316;2176542;2217050;5017560;5024147 ATP6V1F;ATP6V1F_3928;D12S1251E;D12S1957;G23109;WI-14997 ATP6S14;MGC117321;MGC126037;MGC126038;VATF;Vma7 ATPase, vacuolar, 14 kD;H(+)-transporting two-sector ATPase, 14kD subunit;OTTHUMP00000212841;OTTHUMP00000212842;V-ATPase 14 kDa subunit;V-ATPase F subunit;V-ATPase subunit F;V-type proton ATPase subunit F;adenosinetriphosphatase 14k chain;vacuolar ATP synthase subunit F;vacuolar proton pump F subunit;vacuolar proton pump subunit F APPROVED protein-coding ENSG00000128524 HGNC:16832 06198 607160 REVIEWED 3051014 ATP6V1G1P5 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 5 5 5 5 146780369 146780722 + 150698986 150699339 + 151319425 151319778 + 100462840 ABBA01026263;AC008385;AMYH02012464;NG_021901 pseudo HGNC:37672 INFERRED 6480950 ATP6V1G1P7 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 7 13 13 104096370 104097918 - 103444020 103445568 - 100874514 ABBA01027066;AL354763;AMYH02028631;NG_032360 pseudo HGNC:39852 INFERRED 3051013 ATP6V1G1P4 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 4 10 10 10 35212574 35212905 + 35447234 35447565 + 35158306 35158637 + 100462843 ABBA01033345;AL157783;AMYH02022613;NG_022168;NG_029065 pseudo HGNC:37671 INFERRED 3077590 ATP6V1G1P6 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 6 5 5 5 q14.1 73410887 73411255 + 77518079 77518447 + 78222255 78222623 + 100462732 ABBA01061993;AC112197;AMYH02011626;NG_021444 1705370 SHGC-83541 pseudo HGNC:37673 INFERRED 1347481 ATP6V1G2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011] 6 6 6 p21.3 33110473 33112857 - 31512228 31514625 - 31544451 31546848 - 1302931;1580863;6480464;6907045 10202016 10221984;10224039;10340843;10440860;11836511;12384298;12477932;12665801;12788495;14574404;14580332;14597263;14667819;15342556;16101831;16971954;17081065;17662945;19851445;19913121;20379614;20628086;20854863;21139048;21565611;24816145;2874839;9210392;9442887 534 H0Y474;O95670;Q6NVJ2 AA401769;AB063177;AB088115;AB097672;AB102692;AB103621;AB202112;ABBA01038081;AL662801;AL662847;AMYH02013452;BA000025;BC047791;BC068023;BC119726;BC119727;BP195978;BX001040;BX248516;BX927320;C20601;CH471081;CR753820;CR753864;CR753892;CR942185;NG_012344;NM_001204078;NM_130463;NM_138282;Y14768 AAH68023;AAI19727;AAI19728;BAB63399;BAC00863;BAC54952;BAD74057;BAD74058;BAE78636;BAF31286;CAA75073;EAX03414;EAX03416;NP_001191007;NP_569730;NP_612139;O95670 Hs.249227 1682267;2218274 ATP6V1G2_4400;RH93173 ATP6G;ATP6G2;NG38;VMA10 ATPase, H+ transporting, lysosomal (vacuolar proton pump);ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G;H(+)-transporting two-sector ATPase, subunit G2;OTTHUMP00000029286;OTTHUMP00000165896;OTTHUMP00000215151;V-ATPase 13 kDa subunit 2;V-ATPase G subunit 2;V-ATPase subunit G 2;V-type proton ATPase subunit G 2;atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 2;vacuolar ATP synthase subunit G 2;vacuolar proton pump G subunit 2;vacuolar proton pump subunit G 2 APPROVED protein-coding ENSG00000213760 HGNC:862 06030 606853 REVIEWED 1323263 ATP6V1E2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 ENCODES a protein that exhibits hydrogen-exporting ATPase activity, phosphorylative mechanism (inferred); proton-transporting ATPase activity, rotational mechanism (inferred); INVOLVED IN ATP hydrolysis coupled proton transport (inferred); cellular iron ion homeostasis (inferred); insulin receptor signaling pathway (inferred); PARTICIPATES IN oxidative phosphorylation pathway; rheumatoid arthritis pathway; Vibrio cholerae infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN acrosomal vesicle (inferred); cytosol (inferred); proton-transporting two-sector ATPase complex, catalytic domain (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; atrazine 2 2 2 p21 46577658 46585772 - 46738986 46769551 - 46511847 46542412 - 1580863;6480464;6907045;8554872 10748165;11836511;12036578;12477932;12788495;14580332;14597263;14702039;15489334;15815621;17207965;17662945;21906983;2874839 90423 Q96A05 AB074759;ABBA01075137;AC018682;AK058055;AMYH02003735;BC008981;BC034808;BG717423;CH471053;NM_080653;XM_005264633;XM_005264634 AAH08981;AAH34808;AAY14833;ADQ31586;BAB71643;BAC00847;EAX00253;NP_542384;Q96A05;XP_005264690;XP_005264691 Hs.659656 ATP6E1;ATP6EL2;ATP6V1EL2;MGC9341;VMA4 OTTHUMP00000159034;V-ATPase subunit E 2;V-type proton ATPase subunit E 2;atpase, h+ transporting, lysosomal 31kda, v1 subunit e isoform 2;vacuolar proton pump subunit E 2;vacuolar-type proton-translocating ATPase subunit E1 protein-coding ENSG00000250565 HGNC:18125 16525 VALIDATED 3051021 ATP7BP1 ATPase, Cu++ transporting, beta polypeptide pseudogene 1 18 18 18 16805945 16806424 - 19998780 19999259 - 22418817 22419296 - 100462825 ABBA01022660;AC099849;AMYH02034397;NG_022482 pseudo HGNC:31014 INFERRED 5133074 ATP6V1G2-DDX39B ATP6V1G2-DDX39B readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) and DDX39B (DEAD box polypeptide 39B) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript and is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 6 6 p 31497996 31514625 - 31530219 31546848 - 6480464;8554872 12477932;16101831;20967262;21912425;22197932 100532737 F2Z307 ABBA01038080;ABBA01038081;AL662801;AL662847;AMYH02013452;BC004350;BX001040;BX248516;BX927320;CR753820;CR753864;CR753892;CR942185;CT009531;NR_037853 Hs.254042 1689300;1728965;5017795 CH241-100F12_SP6;D17H6S81E-1;RH1521 APPROVED ncrna ENSG00000254870 HGNC:41999 VALIDATED 1312186 ATP6V1G3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q31.3 171614921 171632643 - 198492352 198510075 - 198523222 198540945 - 1580863;6480464;6907045 10221984;10224039;10340843;10440860;11836511;12384298;12477932;12788495;1415677;14580332;14597263;15489334;16710414;17360703;17662945;19366680;20139978;23648065;2874839;9210392;9442887 127124 Q96LB4 ABBA01027578;AC212752;AL157402;AMYH02002444;AY039760;BC101129;BC101130;BC101131;BF509031;BX114684;CH471067;NM_133262;NM_133326;XM_006711163;XM_006724958 AAI01130;AAI01131;AAI01132;AAK83465;EAW91298;EAW91299;NP_573569;NP_579872;Q96LB4;XP_006711226;XP_006725021 Hs.127743 ATP6G3;MGC119810;MGC119813;Vma10 ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G3;OTTHUMP00000033686;OTTHUMP00000216846;OTTHUMP00000216847;V-ATPase 13 kDa subunit 3;V-ATPase G subunit 3;V-ATPase G3 subunit;V-ATPase subunit G 3;V-type proton ATPase subunit G 3;vacuolar ATP synthase subunit G 3;vacuolar proton pump G subunit 3;vacuolar proton pump subunit G 3;vacuolar proton pump, subunit G3 APPROVED protein-coding ENSG00000151418 HGNC:18265 16526 REVIEWED 1320995 ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 8 8 8 q11.2 50618400 50746017 - 54628103 54756099 - 53715543 53843311 - 1580863;6480464;6907045;8554872 10810093;10931946;11179428;11329013;11463741;11836511;12032142;12058068;12163484;12477932;12539959;12788495;14580332;14597263;14702039;15489334;16103193;16169070;16344560;17897319;18368028;19056867;19815536;2014052;20488787;20639865;21139048;21674799;21871445;21890473;21906983;21963094;21987572;21988832;22053931;22360420;22863883;22939629;23000965;23092984;23956138;24816145;2874839;9442887;9620685 51606 B3KUZ7;B4E054;E5RG49;E5RHH0;E5RJG1;E5RK31;G3V126;H0YB41;Q9UI12 ABBA01041720;ABBA01041721;ABBA01041722;ABBA01041723;ABBA01041724;ABBA01041725;AC022887;AC103778;AC113194;AF112204;AF113222;AF125105;AF132945;AF298777;AI741756;AK022345;AK094839;AK098305;AK303229;AK308204;AL598970;AL833183;AMYH02017992;AMYH02017993;AMYH02017994;AX879062;BC007421;BC007454;BC014862;BC025275;BG197001;CH471068;DA147153;DB464555;NM_015941;NM_213619;NM_213620;XM_006716455 AAD27720;AAF17192;AAG22809;AAG39293;AAH25275;AAL75942;BAG51072;BAG53609;BAG64316;CAE90355;EAW86727;EAW86728;EAW86729;EAW86730;EAW86731;EAW86732;EAW86733;NP_057025;NP_998784;NP_998785;Q9UI12;XP_006716518 Hs.491737 1739771;1857809;1858544;2125844;2137802;2155061;2157946 2004;A003B09;D20S765E;IB299;RH12012;RH46206;SHGC-56460 CGI-11;MSTP042;NBP1;SFD;SFDalpha;SFDbeta;VMA13 OTTHUMP00000226227;OTTHUMP00000226228;OTTHUMP00000226253;OTTHUMP00000226254;V-ATPase 50/57 kDa subunits;V-ATPase H subunit;V-ATPase subunit H;V-type proton ATPase subunit H;nef-binding protein 1;protein VMA13 homolog;vacuolar ATP synthase subunit H;vacuolar ATPase subunit H;vacuolar proton pump H subunit;vacuolar proton pump subunit H;vacuolar proton pump subunit SFD APPROVED protein-coding ENSG00000047249 HGNC:18303 10591 608861 REVIEWED 10216 ATP7A ATPase, Cu++ transporting, alpha polypeptide This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013] X X X q21.1 77407059 77546975 + 77166194 77305892 + 77910656 78050395 + 734621;1580863;6480464;7240710;8548473;8554872;8699517 10739752;22796517 10079814;10079817;10319589;10401004;10484781;10497213;10557326;10567439;10970802;11040994;11092760;11214319;11241493;11350187;11431706;11936860;12221109;12393797;12485191;12485192;12539960;12539963;12565888;12676902;12679332;12812980;14572476;14635105;14644159;14702039;14977365;14985388;15071553;15135234;15342556;15372525;15670166;15772651;15981243;16051599;16083905;16172131;16211579;16317117;16344560;16397091;16826513;16873374;16884690;17003121;17108763;17109627;17158254;17178205;17496194;17531189;17545667;17562324;17717039;17987894;17989919;18030470;18272047;18515074;18565219;18650808;18688737;18752978;19046832;19127267;19153371;19194885;19453293;19645496;19679821;19917612;19946888;20045993;20170900;20301586;20566629;20671235;20714486;21115196;21117320;21139048;21221114;21242307;21494555;21646353;21667063;21716286;22053931;22074552;22130675;22210628;22304828;22710939;22939629;22992316;23281160;23345593;23596324;23751120;23963605;24100245;24150977;24403508;24735419;24754450;7490081;7607665;7842019;7977350;8490646;8490647;8490659;8526465;8812725;8923001;8943055;8947031;8981948;9147644;9246006;9437429;9467005;9668166;9693104;9817923 538 B4DRW0;Q04656;Q762B6 AB117973;AB208828;ABBA01029575;ABBA01029576;ABBA01029577;ABBA01029578;ABBA01029579;ABBA01029580;ABBA01029581;ABBA01029582;ABBA01029583;ABBA01029584;ABBA01029585;ABBA01029586;ABBA01029587;ABBA01029588;ABBA01029589;AK096667;AK299449;AL356235;AL645821;AL772330;AMYH02039820;AY011418;BP364137;BU753163;BX503903;CD299174;CH471104;DB164588;HC679684;L06133;L06476;NG_013224;NM_000052;NM_001282224;NR_104109;U27360;U27381;X82336;Z94753;Z94801 AAA16974;AAA35580;AAA96010;AAG47452;AAI56438;BAC82353;BAD92065;BAG61422;CAB08160;CAB08162;CAB94714;CBL93959;EAW98605;EAW98606;NP_000043;NP_001269153;Q04656 Hs.496414;Hs.733232 1335235;1336636;1702604;1703164;1744143;1854132;1854134;2110275;2129677;2144288;2151213;2155472;2156606;2184550;5015619;5020946;5022200;5024413;5109281;5117080;5117082;5117086;5117088;7186248 AL023617;ATP7A__4401;D11S3114;D1S1425;DXS1494;DXS6743;DXS986;DXS990;G10612;G18202;GDB:392043;GDB:435280;GDB:435283;GDB:435290;GDB:435294;GDB:437238;L17877;L17971;L18426;L47618;L77252;SHGC-31483;SHGC-8964 DSMAX;FLJ17790;MK;MNK;SMAX3 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome);Cu++-transporting P-type ATPase;Menkes disease-associated protein;OTTHUMP00000023593;copper pump 1;copper-transporting ATPase 1 APPROVED protein-coding ENSG00000165240 HGNC:869 02054 300011;300489;304150;309400 REVIEWED 6480957 ATP8A2P3 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 3 13 13 26688547 26728313 - 26114409 26154175 - 100874518 ABBA01007912;AL138966;AMYH02027728;AMYH02027729;NG_032522 pseudo HGNC:42641 INFERRED 5131587 ATP8A2P2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 2 13 13 33051311 33052987 + 32477174 32478850 + 100533851 ABBA01010141;AL137247;AL353665;AMYH02027824;NG_028886 pseudo HGNC:39663 INFERRED 731392 ATP7B ATPase, Cu++ transporting, beta polypeptide This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008] 13 13 13 q14.3 33555444 33634269 - 52506805 52586181 - 51905617 52012109 - 734622;2292670;2298865;1643593;2298864;2292672;6480464;7240710;8548473;8554872;8699517 11802810;12216079;15790435;16488995;17303181;22796517;8037756 10051024;10334941;10447265;10497213;10502776;10502777;10544227;10557326;10721669;10790207;10940336;10942420;11043508;11053407;11180609;11243728;11405812;11470780;11690702;11775208;11775546;11806854;11823463;11857545;12029094;12186999;12196182;12325021;12445675;12477932;12539960;12539962;12544487;12551905;12557139;12572677;12579329;12579336;12763797;12812649;12820478;12885331;12968035;14514926;14616767;14709553;14966923;14986826;15024742;15057823;15071553;15102688;15135234;15154620;15158437;15205462;15269005;15337266;15511628;15519648;15557537;15681833;15845031;15952988;15963506;15967699;16088907;16211609;16215951;16230279;16283883;16310588;16344560;16377579;16416207;16472602;16554302;16567646;16571664;16573520;16632204;16676348;16700326;16884690;16939419;17109627;17160357;17171802;17196137;17229731;17272994;17317524;17325640;17410460;17531189;17562324;17587212;17634212;17660582;17680703;17717039;17718866;17823867;17876883;17897870;17919502;17944925;17949296;18180385;18203200;18371106;18373411;18483695;18521802;18558714;18565219;18593893;18636185;18637198;18652531;18688737;18692069;18698682;18809983;18841562;18855987;18974300;19033537;19046832;19062534;19141620;19181666;19296535;19322201;19371217;19416479;19419418;19478447;19520855;19634275;19645496;19783880;19946888;20032459;20045993;20082719;20124325;20201926;20301334;20301685;20333758;20362556;20430895;20465995;20485189;20491539;20566629;20708958;20739809;20799727;20931554;20965182;21034864;21115196;21117320;21139048;21189263;21219664;21242307;21398519;21406592;21454443;21645214;21796144;21832955;21890473;22046264;22075048;22130675;22145502;22240481;22258517;22356903;22459168;22484412;22574136;22677543;22692182;22720273;22720308;22763723;22774841;22898812;22950421;23159873;23219664;23221602;23235335;23275100;23333878;23518715;23650006;23751120;23760784;23789284;23803742;23830383;23843956;23948886;23963605;23982005;24023303;24094725;24706876;7626145;7762553;7833924;8250934;8298639;8298640;8298641;8533760;8782057;8889548;8889549;8931691;8938442;8980283;9222767;9307043;9311736;9482578;9554743;9600907;9671269;9724794;9772425;9829905;9887381 540 B7ZLR4;E7ET55;F5H562;F5H748;P35670 AA047378;AB209461;ABBA01051051;ABBA01051052;ABBA01051053;AF034838;AF220215;AF254559;AF254560;AK302074;AK302490;AL138821;AL139082;AL162377;AMYH02028038;AMYH02028039;AMYH02028040;BC117200;BC143973;BC143974;BC143975;BC143976;BU682287;BX479483;BX648261;CH471075;DA125470;DQ015922;L25442;L25591;NG_008806;NM_000053;NM_001005918;NM_001243182;S77446;S77447;S77450;U03464;U11700;XM_005266423;XM_005266424;XM_005266427;XM_005266428;XM_005266429;XM_005266430;XM_005266431;XM_005266432;XM_006719837;XM_006719838;XM_006719839;XR_429217 AAA16173;AAA79211;AAA79212;AAA92667;AAB34086;AAB34087;AAB52902;AAD01998;AAD14987;AAF67661;AAG27536;AAG27537;AAI17201;AAI43974;AAI43976;AAI43977;AAY41166;BAD92698;BAG63463;BAG63775;EAX08892;EAX08893;EAX08894;EAX08895;EAX08896;NP_000044;NP_001005918;NP_001230111;P35670;XP_005266480;XP_005266481;XP_005266484;XP_005266485;XP_005266486;XP_005266487;XP_005266488;XP_005266489;XP_006719900;XP_006719901;XP_006719902 Hs.492280 1648904;1675814;1703832;1720049;1744567;1744569;1744571;1744573;1744575;1744577;1744579;1744581;1744587;1744589;1744591;1744601;1744603;1744605;1744607;1744609;1744611;1744613;1744615;1762651;1763361;2130628;2156518;2218276 ATP7B_4402;D19S1101;GDB:532997;GDB:533003;GDB:533006;GDB:533013;GDB:533021;GDB:533046;GDB:533050;GDB:533057;GDB:542970;GDB:542978;GDB:542982;GDB:547725;GDB:547728;GDB:547732;GDB:547739;GDB:547748;GDB:547753;GDB:547758;GDB:547771;RH123821;RH45092;RH98917;SHGC-146451;SHGC-147086;SHGC-79066;SHGC-8883 PWD;WC1;WD;WND ATPase, Cu(2+)- transporting, beta polypeptide;OTTHUMP00000018794;Wilson disease-associated protein;copper pump 2;copper-transporting ATPase 2 APPROVED protein-coding ENSG00000123191 HGNC:870 06050 277900;606882 REVIEWED 1344629 ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN aging (inferred); axonogenesis (inferred); cation transmembrane transport (inferred); ASSOCIATED WITH Autosomal recessive inheritance (inferred); Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 (inferred); Cerebellar atrophy (inferred); FOUND IN Golgi apparatus; plasma membrane; INTERACTS WITH 17beta-estradiol; progesterone; silicon dioxide 13 13 13 q12 7010413 7663625 + 25946209 26599989 + 25372071 26025851 + 1580863;6480464;8699517;7240710;8554872 10551800;11015572;12477932;14702039;15057823;17621610;19778899;20379614;20683487;20889312;21454556;22797925;22892528;23568457 51761 B1ALJ8;B7Z880;F8W9B3;Q6ZSP3;Q6ZU25;Q9NTI2 ABBA01007904;ABBA01007905;ABBA01007906;ABBA01007907;ABBA01007908;ABBA01007909;ABBA01007910;ABBA01007911;AC206479;AF236871;AK022096;AK094653;AK126031;AK127263;AK302980;AK310254;AL136438;AL137256;AL138815;AL138958;AL139004;AL157366;AL356316;AL390129;AL669971;AMYH02027721;AMYH02027722;AMYH02027723;AMYH02027724;AMYH02027725;AMYH02027726;AMYH02027727;AMYH02027728;AX823716;BC144228;BC144229;BX537836;CH471075;KF455735;KF455744;NM_016529;XM_005266419;XM_006719832;XM_006719833;XM_006719834;XM_006719835;XM_006719836;XR_429216 AAF40215;AAI56472;AAI72535;BAC04396;BAC86402;BAC86905;BAH13866;CAB70658;CAB99084;CAD97848;CAE84542;EAX08372;EAX08373;EAX08374;EAX08375;EAX08376;NP_057613;Q9NTI2;XP_005266476;XP_006719895;XP_006719896;XP_006719897;XP_006719898;XP_006719899 Hs.444957 1338479;1339261;1339480;1646323;1655824;1656059;1703582;1710810;1716589;1718865;1730259;1731875;1737495;1737531;1739263;1748443;1750399;1757815;1759193;1759763;1779630;2124081;2143410;2164692;5094266;5127969;7187903 D13S1035;D13S1055;D13S1126;D13S1191;D13S1285;D13S1294;D13S182E;D13S221;D13S308;D13S809;G54675;G64210;RH121640;RH123137;SHGC-112580;SHGC-146587;SHGC-150884;SHGC-151273;SHGC-152561;SHGC-153606;SHGC-82790;SHGC-84149;STS-Z41450;WI-12595;WI-14830;WI-14969 ATP;CAMRQ4;DKFZp434B1913;IB;ML-1 ATPIB;ATPase class I type 8A member 2;ATPase, aminophospholipid transporter-like, class I, type 8A, member 2;OTTHUMP00000018151;P4-ATPase flippase complex alpha subunit ATP8A2;phospholipid-transporting ATPase IB;probable phospholipid-transporting ATPase IB APPROVED protein-coding ENSG00000132932 HGNC:13533 05795 605870;615268 VALIDATED 1344922 ATP8 mitochondrially encoded ATP synthase 8 ENCODES a protein that exhibits ATPase activity; INVOLVED IN ATP catabolic process; ASSOCIATED WITH Multiple Sclerosis; Urinary Bladder Neoplasms; Arthritis, Experimental (ortholog); FOUND IN mitochondrial proton-transporting ATP synthase complex; INTERACTS WITH atrazine; thapsigargin; tunicamycin MT MT 8366 8572 + 8366 8572 + 2302294;5490296;5490263;5490294;5490297;6480464 15254717;17619138;19759059;20450733;21167184 11607774;19066432;19758471;20082143;20936779;21890473;23840124;24153443;24440288 4509 P03928;Q9B1A3;U5YV54 J01415 AAB58947;YP_003024030 1675341;1690266;1736692;1791392;1793110;1793294;1793296;1793298;1794766;1794768;1794770;1794772;2182028 D17S813E;D1S2077E;PMC109173P1;PMC196577P3;PMC20756P1;PMC20756P2;PMC20756P3;PMC55343P3;PMC55343P4;PMC55343P5;PMC55343P6;RH98513;SHGC-57364 ATPase8;MTATP8 ATP synthase F0 subunit 8 APPROVED protein-coding HGNC:7415 516070 PROVISIONAL 1320053 ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p13 42858235 43107011 - 42410390 42659122 - 42408373 42657105 - 631958;1580863;6480464;8554872 9548971 10198212;11015572;12477932;15071553;15342556;15919184;17229723;18519826;19946888;20379614;21890473;21914794;22610502;23269685;8619474;9110174 10396 H0Y8I6;H0YAA1;H0YAF4;H0YAJ4;Q4G1C1;Q9Y2Q0 AB013452;AB209687;ABBA01014289;ABBA01014290;ABBA01014291;AC084010;AC096734;AC110788;AC139717;AF035315;AF067820;AK027252;AMYH02009106;AMYH02009107;AMYH02009108;AMYH02009109;BC020943;BC109317;BC109318;BP232466;BX648675;CH471069;NM_001105529;NM_006095;XM_005248043;XM_006713989 AAD34706;AAH20943;AAI09318;AAI09319;AAY40924;AAY40980;BAA77248;BAD92924;EAW93003;EAW93004;NP_001098999;NP_006086;Q9Y2Q0;XP_005248100;XP_006714052 Hs.435052 1666218;1762875;1764889;1771993;2108705;2114584;2157074;2170377;2185466 ATP8A1_9102;D4S1207;D4S3277;G09524;SHGC-146639;SHGC-148448;SHGC-36481;SHGC-59604;WI-19830 ATPASEII;ATPP2;MGC130042;MGC130043;MGC26327 ATPIA;ATPase II;ATPase class I type 8A member 1;OTTHUMP00000125252;OTTHUMP00000219630;P4-ATPase flippase complex alpha subunit ATP8A1;aminophospholipid translocase;chromaffin granule ATPase II;phospholipid-transporting ATPase IA;probable phospholipid-transporting ATPase IA APPROVED protein-coding ENSG00000124406 HGNC:13531 16527 609542 REVIEWED 1352358 ATP8B5 ATPase, Class I, type 8B, member 5 11015572 57195 HGNC:13537 5128956 ATP8A2P1 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 1 10 10 10 37307813 37324335 + 37537046 37553565 + 37248118 37264637 + 100422505 ABBA01033304;AL157387;AMYH02022653;NG_025483 pseudo HGNC:39662 INFERRED 1315485 ATP8B4 ATPase, class I, type 8B, member 4 This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 15 15 15 q21.2 27043704 27304104 - 50150435 50411419 - 49858238 50119222 - 1580863;6480464;8554872 10737800;11015572;11853319;12477932;12880872;14702039;16572171;17998437;20379614;23087808 79895 H0YK53;H0YL60;H0YLC1;H0YLJ1;H0YM66;H0YMB5;H0YMP8;Q6PG43;Q8TF62 AB075819;ABBA01039119;ABBA01039120;ABBA01039121;AC009753;AC016045;AC025040;AK025125;AK123747;AK128602;AMYH02030396;BC057236;BC144297;BC144298;BE241899;BF898163;BF898268;BI258773;BX647496;CH471082;JA738691;KF456044;NM_024837;NR_073596;NR_073597;NR_073598;XM_006720693;XM_006720694;XM_006720695;XM_006720696 AAH57236;AAI66692;BAB15072;BAB85525;BAG53950;CCF76998;EAW77380;EAW77381;EAW77382;EAW77383;NP_079113;Q8TF62;XP_006720756;XP_006720757;XP_006720758;XP_006720759 Hs.511311 1714829;1716823;2136102;2169890 D15S1509;RH120409;RH121707;RH70043 FLJ25418 ATPIM;P4-ATPase flippase complex alpha subunit ATP8B4;potential phospholipid-transporting ATPase IM;probable phospholipid-transporting ATPase IM protein-coding ENSG00000104043 HGNC:13536 10681 609123 REVIEWED 1604224 ATP8B5P ATPase, class I, type 8B, member 5, pseudogene 9 9 9 p13.3 35338740 35415016 + 35406752 35483026 + 35406755 35483029 + 12477932;19657017;20210993 158381 ABBA01064993;AK310278;AL133476;AL160274;AL592145;AMYH02019458;AMYH02019459;BC031276;BC035229;BC047452;BC130448;BC130450;CH471071;NR_003581;NR_003582;NR_110320 EAW58379;EAW58380;EAW58381;EAW58382 Hs.575661 1660863;1690336;1752065;1770403;1770405 A005R04;D9S2099;G20429;RH92867;SHGC-106014 FetA APPROVED pseudo ENSG00000179766 HGNC:27245 18739 VALIDATED 1318635 ATP8B2 ATPase, aminophospholipid transporter, class I, type 8B, member 2 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127369751 127395492 + 154298036 154323780 + 154325560 154351304 + 1580863;6480464;8554872 10574461;11015572;12477932;12880872;14702039;15071553;15489334;15919184;19913121;20628086;21890473 57198 P98198;Q6P3T1 AB032963;ABBA01049481;AI857468;AK054886;AK304806;AL137537;AL162591;AMYH02001921;AY302537;BC007837;BC030288;BC041573;BC063858;BC069264;CH471121;NM_001005855;NM_020452;XM_005245355;XM_005245356;XR_241091 AAH07837;AAH30288;AAH63858;AAH69264;AAI40442;AAQ19027;BAA86451;BAB70822;BAG65556;CAB70799;EAW53204;EAW53205;EAW53206;EAW53207;EAW53208;NP_001005855;NP_065185;P98198;XP_005245412;XP_005245413 Hs.435700 1337159;2187481;5024035;5037552 D13S116;D8S2279;DXS8011;RH69640 DKFZp434M0219;KIAA1137 ATPID;ATPase, class I, type 8B, member 2;OTTHUMP00000034193;OTTHUMP00000034317;P4-ATPase flippase complex alpha subunit ATP8B2;phospholipid-transporting ATPase ID;probable phospholipid-transporting ATPase ID APPROVED protein-coding ENSG00000143515 HGNC:13534 05794 605867 REVIEWED 1318284 ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008] 18 18 18 q21.31 52031466 52187934 - 55313658 55470327 - 57646426 57803310 - 1580863;1599397;6480464;7240710;8554872;8699517 9500542 10679031;11015572;11093741;11682026;12477932;12880872;14988830;15071553;15239083;15489334;15888793;15919184;15946126;16341674;16628629;17948906;18668687;18951430;19027009;19228886;19381753;19478059;19479804;19731236;19809379;19890347;19918981;20038848;20216097;20232290;20301474;20414253;20447715;20512993;20683201;20852622;21914794;22001757;23033845;23060447;23197899;23213138;23251605;23750872;24260417;5762004;7655458;7894490;9548971;9918928 5205 K7EQC4;K7ERI0;K7ESK2;O43520 AA234929;ABBA01056133;ABBA01056134;ABBA01056135;ABBA01056136;ABBA01056137;ABBA01056138;ABBA01056139;ABBA01056140;AC022724;AC027097;AF032442;AF038007;AI625486;AI914078;AK128536;AMYH02034794;AMYH02034795;AMYH02034796;AMYH02034797;AMYH02034798;AMYH02034799;BC003534;BG403134;BM796053;CB052296;CH471096;CV572801;DR005588;NG_007148;NM_005603;XM_006722481;XM_006722482 AAC04328;AAC63461;AAH03534;AAI72221;EAW63054;EAW63055;NP_005594;O43520;XP_006722544;XP_006722545 Hs.216623 1338440;1668482;1789016;5015404;5016851;5020946;5024413 D18S381;G36359;G65640;L17705;L17877;L17971;RH80031 BRIC;FIC1;ICP1;PFIC;PFIC1 ATPIC;ATPase, class I, type 8B, member 1;E1-E2 ATPase;OTTHUMP00000163615;P4-ATPase flippase complex alpha subunit ATP8B1;familial intrahepatic cholestasis type 1;phospholipid-transporting ATPase IC;probable phospholipid-transporting ATPase IC APPROVED protein-coding ENSG00000081923 HGNC:3706 03867 147480;211600;243300;602397 REVIEWED 735480 ATP9A ATPase, class II, type 9A ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN cation transmembrane transport (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN early endosome; perinuclear region of cytoplasm; recycling endosome; INTERACTS WITH 2-methylcholine; 5-fluorouracil; benzo[a]pyrene 20 20 20 q13.2 46917463 47089610 - 50213314 50384908 - 51596775 51768369 - 1580863;6480464;8554872 11015572;11780052;12477932;14702039;18519826;20379614;21145461;21182205;21890473;23000965;9734811 10079 O75110;Q96B35 AB014511;ABBA01052804;ABBA01052805;ABBA01052806;ABBA01052807;AF086357;AK025559;AK026513;AK172802;AK299064;AL035684;AL138807;AL353799;AMYH02037259;AMYH02037260;AMYH02037261;AMYH02037262;AMYH02037263;AMYH02037264;AMYH02037265;BC016044;BC036759;BC043392;BC063701;BC110591;BC110592;CH471077;NM_006045 AAH16044;AAI10592;AAI10593;AAI67819;BAA31586;BAD18775;BAG61130;EAW75597;EAW75598;EAW75599;EAW75600;NP_006036;O75110 Hs.649234 1335601;1652485;1672111;1691680;1710078;1771383;2120211;2145714;2145716;2155488;2156506;2169984;2169986;2170971;2177860;2218278 A001W29;A005Y41;A008B25;A009A38;AL032541;ATP9A_4405;D20S185;D20S457;D20S579E;D20S620;G19718;G20606;RH12445;RH45440;RH48521;SHGC-83700 ATPIIA;KIAA0611 ATPase type IV, phospholipid-transporting (P-type),(putative);OTTHUMP00000043369;OTTHUMP00000043371;phospholipid-transporting ATPase IIA;probable phospholipid-transporting ATPase IIA protein-coding ENSG00000054793 HGNC:13540 18541 609126 VALIDATED 1313025 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18862395 18883635 - 17921334 17942483 - 18018020 18039169 - 1580863;6480464;7240710;8554872;8699517 11076863;11256614;11410595;11997338;12477932;14757859;15489334;15489336;16381901;19933271;20167577;20877624;21832049;24250222;8619474;9110174 91647 C9J2Q2;J3KTB2;K7ELC1;Q8N5M1 AA760883;ABBA01009741;ABBA01009742;AC087163;AF052185;AF070584;AI857387;AK290257;AK294487;AMYH02033102;AMYH02033103;AMYH02033104;AY203943;BC004114;BC032126;CH471196;NG_012824;NM_145691;XM_005256848 AAH04114;AAH32126;AAP34466;BAF82946;BAG57709;CAL38119;EAW55676;EAW55677;EAW55678;EAW55679;EAW55680;NP_663729;Q8N5M1;XP_005256905 Hs.528889 1775977;2114675;2170247 D17S2021;RH11962;SHGC-24341 ATP12;ATP12p;LP3663;MC5DN1;MGC29736 ATP12 homolog;OTTHUMP00000065658;OTTHUMP00000065659;OTTHUMP00000065660 APPROVED protein-coding ENSG00000171953 HGNC:18802 10599 604273;608918 REVIEWED 1353015 ATP9B ATPase, class II, type 9B ENCODES a protein that exhibits ATP binding (inferred); cation-transporting ATPase activity (inferred); magnesium ion binding (inferred); INVOLVED IN establishment of protein localization to Golgi; FOUND IN perinuclear region of cytoplasm; trans-Golgi network; INTERACTS WITH benzo[a]pyrene; bisphenol A; cocaine 18 18 18 q23 73601459 73911517 + 76829394 77138283 + 79069394 79378283 + 631958;1580863;6480464 9548971 11015572;11124703;12477932;14702039;16177791;19460752;22118674;22525042;23535732 374868 B3KSI8;B4DJ94;K7EII3;K7EJG1;K7EJP9;K7EJS3;K7EL57;K7EPH4;K7EQ39;K7EQQ5;K7ERE0;K7ES39;O43861;Q69YZ7;Q7Z3J4;Q7Z6L4 AB373110;ABBA01013884;ABBA01013885;ABBA01013886;AC023090;AC099689;AC104423;AC125437;AJ006268;AK093704;AK097757;AK127634;AK128142;AK128847;AK130499;AK130839;AK295981;AK308291;AL096735;AMYH02035053;AMYH02035054;AMYH02035055;AMYH02035056;AMYH02035057;AW411030;BC022535;BC036473;BC037546;BC053561;BC125219;BC125220;BX537860;BX648948;CH471117;NM_198531;U78978;XM_005266690;XM_005266691;XM_005266692;XM_005266693;XM_005266694;XM_005266695;XM_006722447;XM_006722448;XM_006722449;XM_006722450;XR_245458 AAC05243;AAH53561;AAI25220;AAI25221;BAC85365;BAC85443;BAC87065;BAC87644;BAG52750;BAG58756;BAM15576;CAA06934;CAD97865;CAH10731;EAW66609;EAW66610;EAW66611;EAW66612;EAW66613;EAW66614;EAW66615;EAW66616;NP_940933;O43861;XP_005266747;XP_005266748;XP_005266749;XP_005266750;XP_005266751;XP_005266752;XP_006722510;XP_006722511;XP_006722512;XP_006722513 Hs.465475 1341670;1657187;1701458;1707430;1717935;1721013;1725309;1750419;1762549;1768237;1778344;1850088;1850191;1858366;2140038;2182593;5015607;5020423;5021872;5022651;5022710;5037552;5115198;5118342 A004F30;A004V34;ATP9B;D11S1053;D11S2442;D11S2921;D11S3014;D11S3206;D18S1022;D18S1141;D18S909E;D8S2279;G59488;RH104361;RH118972;RH122794;RH45957;SHGC-112592;SHGC-146363;SHGC-84507;WI-10807;WI-11906;WI-3064;sY3084 ATPIIB;DKFZp686H2093;FLJ46612;HUSSY-20;MGC150650;MGC150651;MGC61572;NEO1L;hMMR1 ATPASEP;ATPase type IV, phospholipid transporting (P-type);OTTHUMP00000163815;macrophage MHC receptor 1;probable phospholipid-transporting ATPase IIB protein-coding ENSG00000166377 HGNC:13541 16528 614446 VALIDATED 1323150 ATRAID all-trans retinoic acid-induced differentiation factor This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009] 2 2 2 p23.3 27281225 27286373 + 27434899 27440046 + 27212031 27217178 + 6480464;8554872 10948432;11042152;12477932;12975309;15340161;15489334;15815621;16169070;17387583;17524364;18388313;21723284;21832049;23036366;23284715;8889548 51374 C9JA62;Q6UW56 AA604432;AB009017;ABBA01045199;AC013403;AF077037;AF144055;AF275744;AK291894;AMYH02003473;AW966996;AY358968;BC002846;BC011006;BC021237;BC035850;BI194121;BQ420456;BQ718371;BQ962996;CA450289;CD513162;CF126865;CH471053;NM_001170795;NM_016085;NM_080592 AAD27770;AAD31317;AAH02846;AAH11006;AAH21237;AAH35850;AAK69412;AAQ89327;AAX93173;BAF80618;BAF84583;EAX00615;EAX00616;EAX00617;EAX00618;EAX00619;NP_001164266;NP_057169;NP_542159;Q6UW56 Hs.9527 1712186;2181945 G54144;RH70745 APR--3;APR-3;APR3;C2orf28;HSPC013;PRO240;p18 OTTHUMP00000158506;OTTHUMP00000201023;OTTHUMP00000201024;apoptosis related protein 3;apoptosis related protein APR-3;apoptosis-related protein 3 APPROVED protein-coding ENSG00000138085 HGNC:24090 16652 REVIEWED 1312589 ATPIF1 ATPase inhibitory factor 1 This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p35.3 26958253 26960253 + 28562602 28564616 + 28236091 28238105 + 1580863;6480464 10664857;11742976;12110673;12477932;14702039;15342556;15489334;15528193;15635413;15809073;16169070;16344560;16713569;16806233;17851741;18029348;18624398;19559621;20374090;20379614;20538613;20877624;21900206;22342343;23135403;23348567;23722655;23794714;24005319;24255178;24521670;24816145 93974 Q9UII2 AB029042;ABBA01035017;AF114836;AK000934;AK316600;AL050386;AL353622;AL583540;AMYH02000621;AY005470;BC004955;BC009677;BC017562;BG036978;BG337531;BG714388;BP271519;BT009849;CH471059;CR457097;DB030607;NM_016311;NM_178190;NM_178191 AAF97495;AAH04955;AAH09677;AAP88851;AAP97235;ACE86960;ACE87650;BAA88422;BAG38187;CAG33378;CAI46227;EAX07704;EAX07705;EAX07706;NP_057395;NP_835497;NP_835498;Q9UII2 Hs.744914 1779562;2117475 D1S3569;SHGC-153535 ATPI;IF(1);IF1;IP;MGC1167;MGC8898 ATP synthase inhibitor protein;ATPIP;ATPase inhibitor protein;ATPase inhibitor, mitochondrial;OTTHUMP00000003642;OTTHUMP00000234891;OTTHUMP00000234894;inhibitor of F(1)F(o)-ATPase APPROVED protein-coding ENSG00000130770 HGNC:871 16529 614981 REVIEWED 1316924 ATP8B3 ATPase, aminophospholipid transporter, class I, type 8B, member 3 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 19 19 19 p13.3 1716184 1746354 - 1782074 1812275 - 1782075 1812276 - 1580863;6480464;8554872 11015572;12477932;12880872;14702039;16344560;19416921;21890473;21906983;21963094;23251661 148229 F5GZM8;F5H3R9;H0YFS1;H0YH38;K7EJ52;O60423 ABBA01002684;ABBA01002685;ABBA01002686;ABBA01002687;AC004755;AC012615;AK057452;AK058189;AK125225;AK125969;AMYH02035164;AMYH02035165;AMYH02035166;AMYH02035167;AW444739;AY302538;BC033179;BC035162;BU542181;BX427831;CD365734;CH471139;DA111464;DB453086;KF456466;KF459576;NM_001178002;NM_138813;NR_047593;XM_006722654;XM_006722655;XM_006722656;XM_006722657 AAC17601;AAH35162;AAQ19028;BAB71492;BAB71708;BAC86088;EAW69454;EAW69455;EAW69456;EAW69457;EAW69458;EAW69459;EAW69460;EAW69461;EAW69462;EAW69463;NP_001171473;NP_620168;O60423;XP_006722717;XP_006722718;XP_006722719;XP_006722720 Hs.306212 1697272;5015879;5016478 GDB:314949;GDB:434012;RH102133 ATPIK;ATPase, class I, type 8B, member 3;OTTHUMP00000232124;OTTHUMP00000232125;aminophospholipid translocase ATP8B3;phospholipid-transporting ATPase IK;potential phospholipid-transporting ATPase IK;probable phospholipid-transporting ATPase IK APPROVED protein-coding ENSG00000130270 HGNC:13535 05793 605866 REVIEWED 1313436 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011] 1 1 1 p33-p32.3 45385744 45421450 - 47100711 47134099 - 46635039 46668427 - 6480464 11410595;12206899;12477932;12965202;15789402;16344560;20379614;20579638;20877624;21139048;21696813 64756 A8MRA7;E9PPX6;H0YCA6;H0YD21;H0YDD6;H0YEW4;I3L1W9;I3L448;Q5TC12 ABBA01050836;AF111705;AI188403;AJ710373;AK026004;AK296360;AK301874;AK302090;AK310338;AK311271;AL136373;AL593856;AMYH02000961;BC008498;BC018781;BC071731;BX438342;CH471059;DA244814;DB448244;DB483450;NM_001042546;NM_001243728;NM_001256418;NM_022745 AAH08498;AAH18781;AAH71731;AAM12421;ACE86499;ACE87180;BAB15316;BAH12330;BAH13572;BAH13622;EAX06896;EAX06897;NP_001036011;NP_001230657;NP_001243347;NP_073582;Q5TC12 Hs.100874 1644220;1644222;1849448;2170811 A005B23;D1S3533;G20246;G34811 ATP11;ATP11p;FLJ22351;FLJ55378;FLJ60653;MGC88060 ATP11 homolog;OTTHUMP00000009681;OTTHUMP00000231564;OTTHUMP00000231566;OTTHUMP00000231567;OTTHUMP00000231568;homolog of yeast ATP11 APPROVED protein-coding ENSG00000123472 HGNC:18803 12332 608917 REVIEWED 1314047 ATR ATR serine/threonine kinase The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008] 3 3 3 q23 140574471 140721117 - 142168077 142297668 - 142449235 142578826 - 1580863;1599404;2317234;6480464;6484113;6907045;7240710;8554872;8699517 12640452;18381943 10435622;10545197;10597277;10608806;10673501;10747897;10749680;10859164;10889046;10951572;10973490;11016625;11114888;11163154;11252893;11278964;11390642;11393670;11418864;11459832;11470508;11551930;11673449;11688760;11709713;11715017;11721054;11790298;11799063;11865061;11883897;11927575;12011431;12024051;12147700;12446774;12493754;12519769;12526805;12629512;12679521;12738771;12766152;12773400;12791699;12791985;12814551;12915485;12959929;14657349;14724280;14729972;14729973;14742437;14755251;14871897;14988723;15050919;15149599;15159397;15195100;15210935;15235112;15279777;15282542;15302935;15314022;15374968;15451423;15456891;15466211;15485898;15496423;15527801;15533933;15538388;15539948;15616588;15635413;15640246;15650165;15650754;15680327;15707391;15734998;15743907;15758953;15775976;15854902;15933716;15987455;16009130;16051665;16086026;16122425;16122426;16195237;16260606;16293623;16306615;16354571;16431910;16436511;16461339;16474843;16488880;16530042;16540648;16675950;16705183;16713580;16738325;16741947;16757521;16827800;16872911;16880517;16909103;16943440;16951182;16956949;16968694;17010193;17015476;17030982;17035231;17118963;17124492;17140287;17148452;17157788;17210576;17260016;17272271;17292679;17376433;17384638;17384681;17409144;17478428;17526493;17616578;17616665;17620599;17638878;17686975;17716975;17879369;17934520;17976513;18003706;18025301;18032786;18160036;18162465;18202016;18245444;18283122;18344416;18357388;18434539;18451105;18451257;18480045;18495871;18514189;18519640;18536714;18550533;18583959;18625709;18642075;18664457;18757420;18931676;18936170;18950845;18985806;18995830;19004803;19064565;19064572;19074885;19097996;19109555;19116388;19119425;19124506;19146767;19154794;19197236;19242509;19244116;19275579;19275588;19285939;19330022;19351817;19372558;19444312;19470935;19477925;19527713;19536649;19570909;19584262;19586908;19633697;19690177;19714462;19798433;19805520;19828454;19889979;19903823;20005840;20008788;20012529;20029092;20048340;20060399;20084458;20103595;20147462;20233725;20301772;20347598;20368801;20424596;20427275;20427287;20453000;20469721;20496165;20513533;20515729;20566845;20616048;20634891;20731661;20798688;20801936;20810650;20818375;20847938;20861269;20930849;21034966;21139048;21144835;21224401;21242293;21270107;21284603;21285353;21294646;21308861;21383502;21502314;21566061;21659603;21680529;21705319;21857991;21859891;21874023;21890473;21906983;21908846;21963094;21976111;21994772;21995812;21998596;22053931;22084169;22123827;22159421;22174788;22179839;22184063;22341969;22435685;22505724;22535492;22556425;22621920;22713662;22735644;22740051;22797063;22807682;22842784;22939629;22948311;22952448;23000965;23029527;23085754;23135710;23144622;23176708;23178497;23202519;23255133;23272087;23284306;23345434;23401567;23422745;23438602;23447674;23447702;23451157;23454212;23548269;23592782;23592994;23600770;23684611;23696651;23698467;23733185;23807228;23844225;23861882;23873943;23874235;23897887;23901102;23956138;24005565;24045107;24098119;24158819;24238855;24267891;24327542;24332808;24634213;24639502;24662920;24700029;24726882;24799566;24950377;24971543;8610130;8843195;8978690;9427750;9590286;9636169;9733515;9765199;9766667;9857181;9925639 545 D6RFJ6;D6RIG7;H0Y8R8;H0Y8Y6;H0Y9K2;Q13535 A61385;AB208847;ABBA01059023;ABBA01059024;AC109992;AC134509;AF325699;AK307402;AMYH02007818;AMYH02007819;AMYH02007820;AMYH02007821;BE859077;CH471052;DC346860;NG_008951;NM_001184;U49844;U76308;XR_241498;Y09077 AAC50405;AAC50929;AAI72404;AAK26749;BAD92084;CAA03590;CAA70298;EAW78969;EAW78970;NP_001175;Q13535 Hs.271791 1334531;1335767;1341516;1656842;1784772;1789150;2115980;2145597;2150987;7187906 A008V33;D3S1316;D3S3694;D3S3710;G65709;GDB:4585095;SHGC-154915;SHGC-33010;STS-U76308 FCTCS;FRP1;MEC1;SCKL;SCKL1 FRAP-related protein 1;FRAP-related protein-1;MEC1, mitosis entry checkpoint 1, homolog;OTTHUMP00000214450;Rad3 related protein;ataxia telangiectasia and Rad3 related;ataxia telangiectasia and Rad3-related protein;protein kinase ATR;serine/threonine-protein kinase ATR APPROVED protein-coding ENSG00000175054 HGNC:882 08369 210600;230740;601215;602089;614564 REVIEWED 1605736 ATRX alpha thalassemia/mental retardation syndrome X-linked The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013] X X X q21.1 77001253 77282613 - 76760356 77041755 - 77504878 77786269 - 6480464;7240710;9586032;9586028;8554872;9586027;8699517;9586029;9586033;9586030;9586026 23892236;24148618;24289169;24327140;24468746;24805811;24810474 10204841;10398237;10417298;10570185;10660327;10699177;10737800;10742099;10751095;10851248;10995512;11050622;11823444;12116232;12205100;12477932;12777533;12858175;12953102;1415255;14592816;14645126;14690447;14990586;15231748;15252119;15302935;15350606;15466868;15508018;15591283;15635413;15772651;15840729;15882967;15964851;1605216;16169070;16266892;16344560;16376512;16480427;16537041;16712791;1684092;17081983;17118963;17296936;17353931;17579672;17609377;17957225;18227278;18409179;18922870;19017809;19064565;19088125;19129197;19394292;19444003;19471022;19671661;19764021;19919584;20110566;20147399;20159591;20301622;20309963;20504901;20651253;21029860;21056573;21139048;21209221;21252315;21252943;21267006;21310198;21421568;21501635;21505078;21666677;21666679;21693764;21719641;21851155;21885354;21890473;21906983;21986699;22021382;22089611;22102817;22129561;22240898;22356911;22391447;22416102;22575867;22583365;22787211;22829774;22869205;22886134;22976303;23104868;23135716;23185534;23222847;23329831;23361940;23391111;23453691;23681356;23765250;23801766;23904111;23954140;24130152;24530302;24559763;25027693;3177467;3658675;7697714;7874112;8001970;8162050;8242062;8503439;8630485;8889548;8968741;9043863;9244431;9321665;9326931;9499421 546 A4LAA3;B4DLW1;H0Y3T0;P46100;Q5H9A3 AA484729;AA732359;AB101681;AB101682;AB101683;AB101684;AB101685;AB101686;AB101687;AB101688;AB101689;AB101690;AB101691;AB101692;AB101693;AB101694;AB101695;AB101696;AB101697;AB101698;AB101699;AB101700;AB102641;AB208928;AB209545;ABBA01029609;ABBA01029610;ABBA01029611;ABBA01029612;ABBA01029613;ABBA01029614;ABBA01029615;ABBA01029616;ABBA01029617;ABBA01029618;ABBA01029619;ABBA01029620;ABBA01029621;ABBA01029622;ABBA01029623;ABBA01029624;ABBA01029625;ABBA01029626;ABBA01029627;ABBA01029628;ABBA01029629;ABBA01029630;ABBA01029631;ABBA01029632;ABBA01029633;ABBA01029634;ABBA01029635;ABBA01029636;ABBA01029637;ABBA01029638;ABBA01029639;ABBA01029640;ABBA01029641;ABBA01029642;ABBA01029643;ABBA01029644;ABBA01029645;ABBA01029646;ABBA01029647;ABBA01029648;ABBA01029649;AC233293;AC233305;AI733378;AK293241;AK295107;AK296959;AK297183;AK307791;AK308419;AL109753;AL121874;AL138743;AMYH02039810;AMYH02039811;AMYH02039812;AMYH02039813;AMYH02039814;AMYH02039815;AMYH02039816;AMYH02039817;BC002521;BE927791;BM714186;BQ189245;BT007188;BX647222;CB114986;CH471104;DA759777;DA791316;DR422800;EF467914;L33812;L34363;NG_008838;NM_000489;NM_138270;U09820;U72935;U72936;U72937;U72938;U75653;U97103;X83753;XM_005262153;XM_005262154;XM_005262155;XM_005262156;XM_005262157;XM_006724666;XM_006724667;XM_006724668;Z84487 AAA20872;AAB40698;AAB40699;AAB40700;AAB49969;AAB49970;AAB49971;AAC50069;AAC51655;AAC51657;AAH02521;AAI56297;AAP35852;ABO43036;BAC80270;BAC80271;BAC80272;BAC80273;BAC80274;BAC80275;BAC80276;BAC80277;BAC80278;BAC80279;BAC80280;BAC80281;BAC80282;BAC80283;BAC80284;BAC80285;BAC80286;BAC80287;BAC80288;BAC80289;BAC81110;BAD92165;BAD92782;BAG58140;BAG59503;BAG59673;BAH11474;CAA58711;CAB90351;CAI40710;CAI42674;CAI42675;CAI42677;CAI43115;CAI43116;CAI43117;EAW98611;EAW98612;EAW98613;EAW98614;EAW98615;NP_000480;NP_612114;P46100;XP_005262210;XP_005262211;XP_005262212;XP_005262213;XP_005262214;XP_006724729;XP_006724730;XP_006724731 Hs.533526;Hs.653797 1663208;1666138;1700090;1702244;1702820;1703118;1745193;1745199;1745207;1745213;1745215;1745219;1745223;1745231;1745233;1745239;1745241;1745243;1745245;1745247;1745249;1745253;1745255;1745257;1745259;1745263;1750095;1778907;1795408;2187294;2189463;5016534;5117684;5121815;7184775;7184776 ATRX_1237;DXS56;DXS6980E;DXS9779;GDB:596193;GDB:596198;GDB:596204;GDB:596209;GDB:596212;GDB:596216;GDB:596219;GDB:596225;GDB:596231;GDB:596234;GDB:596239;GDB:596244;GDB:596250;GDB:596255;GDB:596258;GDB:596262;GDB:596276;GDB:596281;GDB:596286;GDB:596290;GDB:596303;GDB:596309;MARC_6759-6760:992007400:1;RH103658;RH47714;SHGC-112339;SHGC-6680;STS-U72937;UniSTS:99785;WI-21664 ATR2;JMS;MGC2094;MRXHF1;RAD54;RAD54L;SFM1;SHS;XH2;XNP;ZNF-HX ATP-dependent helicase ATRX;DNA dependent ATPase and helicase;Juberg-Marsidi syndrome;OTTHUMP00000024265;OTTHUMP00000024266;RAD54 homolog;X-linked helicase II;X-linked nuclear protein;Zinc finger helicase;alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae);helicase 2, X-linked;transcriptional regulator ATRX APPROVED protein-coding ENSG00000085224 HGNC:886 02069 300032;300448;301040;309580 REVIEWED 1607060 ATRNL1 attractin-like 1 ENCODES a protein that exhibits carbohydrate binding (inferred); receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); multicellular organismal development (inferred); PARTICIPATES IN melanocortin system pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 10 10 10 q26 110582194 111437829 + 116853124 117708496 + 115093365 115948985 + 5144214;6480464;8554872 20654690 12477932;14531729;16385451;18821597;20379614;21130836;9628581 26033 B4DH41;E9PL90;H0YDQ9;Q4G0Y2;Q5VV63;R4GMZ1 AB011106;ABBA01062965;ABBA01062966;ABBA01062967;ABBA01062968;ABBA01062969;AC016042;AC022542;AC091667;AK127277;AK294917;AK299592;AL355530;AL356100;AL357059;AL392087;AL512304;AMYH02023859;AMYH02023860;AMYH02023861;AMYH02023862;AMYH02023863;AMYH02023864;AMYH02023865;AW190029;AY442317;BC029592;BC035157;BC046219;BC047716;BC139916;BC139923;BX500409;CH471066;KF455279;KF455280;KF510329;NM_001276282;NM_207303;NR_074088 AAH35157;AAH47716;AAI39917;AAI39924;AAI68382;AAR14297;BAA25460;BAC86914;BAG58002;BAG61524;EAW49459;EAW49460;EAW49461;NP_001263211;NP_997186;Q5VV63 Hs.501127 1338508;1665313;1670413;1680549;1703482;1706664;1782224;2121729;2132946;2134143;2135289;2135888;2171179;2178662;5019677 164ZG11;A008Q18;A009D06;D10S1254;D10S468;G17535;G32438;RH44336;RH46537;RH77766;RH80415;SHGC-82598;SHGC-82820;SHGC-84428;STS-Z40891 ALP;FLJ45344;KIAA0534;bA338L11.1;bA454H24.1 OTTHUMP00000020555;attractin-like protein 1 protein-coding ENSG00000107518 HGNC:29063 12504 612869 VALIDATED 1625848 ATRIP ATR interacting protein This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012] 3 3 3 p21.31 48438989 48457913 + 48488114 48509044 + 48446710 48465655 + 6480464 11181995;11278605;11721054;12477932;12791985;14657349;14702039;14724280;14729973;15210935;15371427;15451423;15489334;15527801;15707391;15743907;15758953;15798197;16027118;16176973;16186122;16189514;16407120;16530042;16713580;16959771;17171639;17203973;17327276;17339343;17384638;17616665;17638878;17686975;18162465;18283122;18344416;18480432;18519640;18583959;18950845;18995830;19097996;19471022;19889979;19913121;20048340;20301772;20616048;20628086;20834067;20847938;20861269;20930849;21285353;21615334;21775519;21777809;21859891;22210626;22258451;23144622;23345434;23454212;24073851;24332808;24990965 84126 C9IZM8;F8WE08;F8WEI5;Q8WXE1 ABBA01024647;ABBA01024648;ABBA01024649;ABBA01024650;AC104448;AC134772;AF451323;AK022405;AK291568;AK291829;AK300548;AK315075;AL832917;AMYH02006717;AMYH02006718;BC014153;BC020563;BC030597;CB960784;CH471055;DC402185;NM_001271022;NM_001271023;NM_032166;NM_130384 AAH14153;AAH20563;AAH30597;AAL38042;ABM83164;ABM86364;BAB14029;BAF84257;BAF84518;BAG37544;BAG62254;CAH10621;EAW64875;EAW64876;EAW64877;EAW64878;EAW64879;EAW64880;EAW64881;EAW64882;NP_001257951;NP_001257952;NP_115542;NP_569055;Q8WXE1 Hs.694840 1848310;2135800 STS-Z41083;WI-21042 DKFZp762J2115;FLJ12343;MGC20625;MGC21482;MGC26740 ATM and Rad3-related-interacting protein;ATR-interacting protein;OTTHUMP00000164811;OTTHUMP00000164812;OTTHUMP00000210129 APPROVED protein-coding ENSG00000164053 HGNC:33499 606605 REVIEWED 1626546 ATXN1L ataxin 1-like ENCODES a protein that exhibits DNA binding (inferred); RNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cell projection (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; formaldehyde; 3,4-methylenedioxymethamphetamine (ortholog) 16 16 16 q22.2 56193822 56233096 + 71879894 71891236 + 71845991 71857333 + 6480464 10737800;11181995;12477932;16121196;16344560;16713569;17322884;21475249;21697133 342371 P0C7T5 AB621810;ABBA01016789;AC009127;AC010653;AI720164;AK025113;AK025339;AL833385;AMYH02032328;BC042985;BX537575;BX537596;CH471166;DB097328;NM_001137675 BAK64146;EAW59221;NP_001131147;P0C7T5 Hs.743239 1670974;1673239;1676990;1748411 D16S2943;D8Ertd587e;NIB1158;RH15633 BOAT;BOAT1;DKFZp667N0214;DKFZp686D05115;DKFZp686O1195;FLJ21460;FLJ21686 ataxin-1-like;brother of ATXN1;brother of ataxin 1;brother of ataxin-1 protein-coding ENSG00000224470 HGNC:33279 614301 VALIDATED 69117 ATRN attractin Multiple transcript variants encoding different isoforms exist for this gene. One of the isoforms is a membrane-bound protein with sequence similarity to the mouse mahogany protein, a receptor involved in controlling obesity. The other two isoforms are secreted proteins involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. [provided by RefSeq, May 2011] 20 20 20 p13 3513657 3693655 + 3451665 3631769 + 3471018 3651122 + 734623;1580863;1299186;5144214;6480464;8554872 10086355;12379762;20654690 10086356;10811918;11780052;12477932;12665801;12675230;1476071;14760718;15231747;15489334;16335952;16344560;16502470;16835316;17261078;18624398;19056867;19320733;19384953;19535787;20198559;20379614;21139048;21890473;21963094;22268729;24250222;8596018;9628581;9736737 8455 B4DZ36;O75882 AA771958;AB011120;ABBA01053824;ABBA01053825;ABBA01053826;AF106861;AF218889;AF218910;AF218915;AK000356;AK293010;AK302730;AL109805;AL132773;AL353193;AMYH02036598;AMYH02036599;BC009724;BC101705;BE326239;CH471133;DA368237;DB240822;EC440053;NG_029406;NM_001207047;NM_139321;NM_139322;XM_005260860;XM_005260861 AAD03057;AAF72881;AAF72882;AAH09724;AAI01706;BAA25474;BAF85699;BAG63948;EAX10530;EAX10531;EAX10532;NP_001193976;NP_647537;NP_647538;O75882;XP_005260917;XP_005260918 Hs.276252 1336081;1651420;1670726;1734192;1793008;2122794;2177750;2177752;2178840;2183768;2184786 A005O05;D20S1122;D20S473;D20S516E;D20S813;D20S828;G18070;G20370;PMC18552P1;RH11545;Z94714 DPPT-L;KIAA0548;MGC126754;MGCA OTTHUMP00000030102;OTTHUMP00000030103;attractin-2;mahogany homolog;mahogany protein APPROVED protein-coding ENSG00000088812 HGNC:885 04388 603130 REVIEWED 1344585 ATXN1 ataxin 1 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010] 6 6 6 p23 17537162 17999561 - 16299343 16761721 - 16299112 16761490 - 1580863;6480464;7240710;8554872 10713882;11001934;11121205;11136710;11781699;11804332;11807410;11973625;12062018;12093161;12360291;12411613;12477932;12659632;12741986;12757707;12757932;14574404;14583607;14756671;14985428;15016912;15148151;15167689;15292212;15300851;15342556;15615787;15750336;1582256;15824120;15878393;16121196;16311891;16380905;16389595;16497448;16614004;16713569;16831871;16967484;17110330;17127076;17190598;17442486;17557114;17646162;17925862;18029348;18160752;18166084;18182848;18216249;18231590;18337722;18439907;18519031;19049837;19208651;19235102;19259763;19451621;19500214;19597981;20018885;20069235;20097758;20132795;20220018;20301317;20301363;20308783;20379614;20477910;20936779;21302343;21315774;21475249;21835928;22330095;22491195;22511762;22666429;22780124;22916034;23197749;23275563;23294540;23333304;23377640;23528090;23536093;23634774;23652004;23719381;23760502;24032423;24155902;24324551;24326307;24858692;24882209;7647801;7951322;8358429;8619528;8634720;8872471;9097953;9353120;9353121 6310 P54253;Q96FF1 AA774255;ABBA01022186;ABBA01022187;ABBA01022188;ABBA01022189;ABBA01022190;ABBA01022191;ABBA01022192;AC002112;AC002326;AK311274;AL009031;AL031120;AL034375;AL137003;AMYH02013179;AMYH02013180;AMYH02013181;AMYH02013182;AMYH02013183;AMYH02013184;AMYH02013185;AMYH02013186;BC010948;BC011026;BC014548;BC029401;BC039236;BC047894;BC063120;BC092446;BC113082;BC117125;BF666802;BF670717;BP365416;BX505133;CH471087;JX901140;N52856;NG_011571;NM_000332;NM_001128164;S82497;X79204 AAD14401;AAH11026;AAH14548;AAI17126;ADR83271;AGA61747;CAA55793;EAW55370;EAW55371;EAW55372;EAW55373;EAW55374;NP_000323;NP_001121636;P54253 Hs.434961 1336273;1337609;1650871;1658670;1658770;1659587;1668120;1682762;1707200;1725299;1726011;1730193;1739085;1742931;1742933;1745907;1762927;1791390;1796718;1851823;2122064;2122500;2128195;2132451;2149528;2153443;2186910;7186202;7186482 1216;D6S1354;D6S1461;D6S2131;D6S274;D6S288;D6S324E;G15977;G62333;GDB:216047;GDB:216054;GDB:681830;PMC109045P1;RH118967;RH35931;RH46829;RH71007;SCA1_796;SGC30752;SHGC-146680;SHGC-33945;SHGC-79186;STS-AA010260;STS-X79204;WI-16958;WI-19222;WI-9349 ATX1;D6S504E;SCA1 OTTHUMP00000016065;alternative ataxin1;ataxin-1;spinocerebellar ataxia type 1 protein APPROVED protein-coding ENSG00000124788 HGNC:10548 03333 164400;601556 REVIEWED 1351525 ATXN10 ataxin 10 This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] 22 22 22 q13.31 29980308 30153770 + 46067678 46241187 + 45671798 45845307 + 724628;1599410;1599412;1580863;6480464;7240710;8699517;8554872 11017075;16714295;9973298 10591208;11230166;11256614;11891842;12235814;12477932;14702039;15127363;15148151;15201271;15461802;15489334;16344560;16385455;16498633;17353931;17846122;18386626;18781797;19147916;19171184;19234597;19259763;19835171;19936807;19946888;20301317;20301354;20379614;20548952;20639865;21139048;21145461;21565611;21827910;21857149;21890473;21906983;21963094;21987572;22053931;22190034;22797925;22863883;23000965;23026538;23181366;23383273;23956138;24318420;24654937;24816145;25015289;8421960;9818872 25814 B1AHE3;B1AHE4;H0Y7N2;Q9UBB4 ABBA01007140;AF086923;AF119662;AK025734;AK095309;AK294348;AL050282;AL137374;AMYH02038524;AMYH02038525;AMYH02038526;BC007508;BI597255;CH471138;CR456568;CR457381;DB035174;DB548216;KF457497;KF457500;NG_016212;NM_001167621;NM_013236;R43701;Z84478;Z93784;Z95331 AAF17219;AAH07508;AAP97153;ABM84166;ABM87569;BAG57616;CAB43383;CAB70715;CAG30454;CAG33662;EAW73392;EAW73393;NP_001161093;NP_037368;Q9UBB4 Hs.475125 1335217;1336946;1646750;1650698;1651367;1651483;1652458;1653734;1655249;1691332;1696960;1711358;1789576;1789578;1789580;1854463;2109075;2140649;2159126;2167125;2181947;5021941;5092970 A009D15;AL008655;AL021662;AL021671;AL022539;AL022558;ATXN10_9416;D22S1161;D22S1202;D22S928;D22S995E;G32443;G64327;G64328;G64329;RH101952;RH45963;RH66155;RH66330;RH80881;SCA10_SNP1;SHGC-82364;WI-11674 E46L;FLJ37990;SCA10 HUMEEP;OTTHUMP00000197383;ataxin-10;brain protein E46 homolog;spinocerebellar ataxia type 10 protein APPROVED protein-coding ENSG00000130638 HGNC:10549 04624 603516;611150 REVIEWED 1347160 ATXN2 ataxin 2 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010] 12 12 12 q24.1 111516452 111663853 - 111890018 112037480 - 111452214 111599676 - 1580863;6480464;7240710;8554872 10713882;10814712;10973246;11311558;11471052;11689490;11804332;11872620;12107410;12477932;12524342;12545161;12671950;12812977;12940846;14534423;14702039;14756671;15124760;15148151;15265035;15300851;15533937;15663938;15826995;16009940;16078202;16115810;16169070;16205789;16389595;16687213;16713569;16835262;17000644;17097639;17149720;17353931;17392519;17440947;17712857;17715286;17850638;17923635;18029348;18160752;18166084;18182848;18265007;18311140;18602463;18781797;18854154;19049837;19235102;19259763;19401771;19430479;19430483;19531213;19542561;19676102;19862010;19946888;20016785;20069235;20181956;20190752;20301317;20301452;20383146;20467438;20542020;20647273;20740007;20926453;21045733;21060863;21139048;21145461;21292779;21334959;21383967;21479228;21482525;21537950;21562247;21610160;21646631;21670397;21741123;21880993;21889984;21906983;21909110;22035589;22037902;22425256;22491195;22493691;22561518;22666429;22758789;22764223;22868089;22914732;22916186;22939629;22990118;23048034;23172909;23197749;23209657;23222517;23263486;23417110;23635656;23813298;23844121;23936447;24026423;24085347;24457600;24515614;24550385;24654937;24657153;24778252;24816145;8358438;8896555;8896556;8896557;9225980;9480749;9575182;9989626 6311 F8VQP2;F8VRK6;F8VVY6;F8VZC1;F8W0B5;F8WB05;F8WB06;H0YH87;Q24JQ7;Q99700;S4R3J6;S4R3R6;V9GY86 AA731027;ABBA01019890;ABBA01019891;ABBA01019892;ABBA01019893;ABBA01019894;ABBA01019895;ABBA01019896;ABBA01019897;ABBA01019898;AC002395;AC137055;AI083696;AK128613;AK307803;AL042619;AMYH02027205;AMYH02027206;AMYH02027207;AMYH02027208;AMYH02027209;BC111757;BC114546;BF448025;CA389718;CH471054;KF455720;NG_011572;NM_002973;U70323;U80749;Y08262 AAB19200;AAI11758;AAI14547;BAC87528;CAA69589;EAW97957;EAW97958;EAW97959;EAW97960;NP_002964;Q99700 Hs.76253 1336988;1695288;1739389;1745921;1750945;1753005;2116061;2119986;2124432;2141199;2172754;2189349;2191333 D12S1390E;D12S1672;D12S1959;G64274;MARC_17487-17488:1030377680:1;MARC_2373-2374:991932707:1;RH70110;SGC44303;SHGC-104734;SHGC-63004;SHGC-68495;STS-N24020;STS-Y08262 ASL13;ATX2;FLJ46772;SCA2;TNRC13 OTTHUMP00000164680;OTTHUMP00000164681;OTTHUMP00000241635;OTTHUMP00000241637;OTTHUMP00000241638;ataxin-2;spinocerebellar ataxia type 2 protein;trinucleotide repeat containing 13;trinucleotide repeat-containing gene 13 protein APPROVED protein-coding ENSG00000204842 HGNC:10555 03307 183090;601517 REVIEWED 1349210 ATXN7L1 ataxin 7-like 1 q22.1 10574462;12421765;12477932;14702039;15115762 57485 C9IZF2;C9K0V9;F8WDE7;H0Y8A2;Q8N7W9;Q9BTQ8;Q9ULK2 AB033044;AK097574;BC003517;BC055009 AAH03517;BAA86532;BAC05107;Q8N7W9;Q9ULK2 Hs.489603 1659549;1666912;1694658;1714759;1721719;1727265;1849103;2123885;2127299;2137720;2147167;2184517;2186107;2191069;5107778 A008Q40;D7S1605;D7S1670;D7S1783;D7S1993;D7S2302;G43507;G59724;G63038;GDB:4585457;GDB:4585481;L17801;MARC_13945-13946:1007583817:1;RH120045;WI-12698 KIAA1218 protein-coding HGNC:22210 1350255 ATXN7 ataxin 7 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 3 3 3 p21.1-p12 63866997 64005909 + 63849785 63989240 + 63864557 64003462 + 1580863;6480464;7240710;8699517 10441328;10598805;10713882;11371513;11580893;11697524;11709544;11734547;11804332;12070661;12533095;12944423;14702039;15115762;15148151;15302935;15316811;15342556;15932940;15936949;16325416;16389595;16494529;16713569;16962040;17026624;17254003;17375202;17720198;18029348;18182848;18206972;18206973;18216249;18325672;19172503;19235102;19259763;19789634;19843541;19909779;19955365;20069235;20301317;20301433;20600911;20634802;20732423;20739808;21078624;21746879;21827908;22072678;22100762;22367614;22827889;22917585;23100044;23226359;23236151;23652004;23828024;23892081;24129567;24374739;7647798;7829101;9288099;9425224 6314 F6U365;H0YAT6;O15265;Q9UPD8 AA398030;ABBA01024312;ABBA01024313;ABBA01024314;AC012557;AC104162;AF020276;AF032102;AF032103;AF032104;AF032105;AF332956;AJ000517;AK125125;AK304062;AK310745;AL134602;AMYH02006950;AMYH02006951;BI494079;BP220889;CH471055;NG_008227;NM_000333;NM_001128149;NM_001177387 AAB87863;AAC19162;AAC19163;AAC19164;AAC39765;AAI66666;AAL79807;BAG64969;CAA04154;EAW65422;EAW65423;NP_000324;NP_001121621;NP_001170858;O15265 Hs.476595 1654372;1672783;1760029;1768371;2106957;2144331;2163158;2163250;2185836 A007I19;ATXN7_7871;D3S2349;G16540;SGC30565;SGC35083;SHGC-77026;SHGC-77032;SHGC-82827 ADCAII;FLJ17787;OPCA3;SCA7 OTTHUMP00000213403;OTTHUMP00000213405;OTTHUMP00000227997;ataxin-7;spinocerebellar ataxia type 7 protein APPROVED protein-coding ENSG00000163635 HGNC:10560 06365 164500;607640 REVIEWED 1345348 ATXN7L1 ataxin 7-like 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 7 7 7 q22.3 100050314 100322052 - 105244932 105517046 - 105604381 105876600 - 6480464;8554872 10574462;12421765;12477932;12690205;14702039;15115762;15342556;15489334;17207965;22881374;23064961;23251661 222255 Q9ULK2 AB033044;ABBA01057936;ABBA01057937;ABBA01057938;ABBA01057939;ABBA01057940;ABBA01057941;ABBA01057942;ABBA01057943;AC005099;AC007030;AC073073;AK095475;AK097574;AK300338;AK302013;AMYH02016484;AMYH02016485;AMYH02016486;AMYH02016487;AMYH02016488;BC003517;BC030616;BC055009;BP339600;BQ431139;CH236947;CH471070;KF458526;KF510963;NM_020725;NM_138495;NM_152749;XM_005250219;XM_005250220;XM_005250221;XM_006715900;XM_006715901;XM_006715902;XM_006715903;XM_006715904;XR_242226 AAH03517;AAH30616;ADQ31760;BAA86532;BAC05107;BAG53065;BAG62083;BAG63415;EAL24404;EAL24405;EAW83370;EAW83371;EAW83372;EAW83373;EAW83374;NP_065776;NP_612504;NP_689962;Q9ULK2;XP_005250276;XP_005250277;XP_005250278;XP_006715963;XP_006715964;XP_006715965;XP_006715966;XP_006715967 Hs.745056 ATXN7L4;MGC33190 ataxin 7-like 4;ataxin-7-like protein 1;ataxin-7-like protein 4 APPROVED protein-coding ENSG00000146776 HGNC:22210 12508 VALIDATED 1606478 ATXN3L ataxin 3-like This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011] X X X p22.2 17454431 17456183 - 13336766 13338518 - 13318647 13320399 - 6907045;6480464 11450850;12477932;15772651;16344560;21118805;22626734 92552 B4DYC7;Q9H3M9 AB050195;ABBA01071086;AC004674;AK302365;AMYH02038892;BC137186;BC137187;CH471074;DB059638;DB460385;DB525796;DB540973;NG_021356;NM_001135995 AAI37187;AAI37188;BAB18799;BAG63689;EAW98819;NP_001129467;Q9H3M9 Hs.382641 1702558;1751085 DXS1437;SHGC-104952 FLJ59638;MGC168806;MGC168807;MJDL OTTHUMP00000022931;machado-Joseph disease protein 1-like;putative ataxin-3-like protein APPROVED protein-coding HGNC:24173 300920 REVIEWED 1604832 ATXN2L ataxin 2-like This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p11 27786107 27802989 + 28834369 28848558 + 28823048 28837237 + 6480464 11784712;12477932;14769358;15144186;15175327;15302935;15489334;15576338;15782174;16009940;16713569;16964243;17000644;17081983;17110338;17392519;18729074;18781797;19156129;19615732;19738201;19915574;20020773;20473688;20811636;20935630;21139048;21145461;21890473;21906983;21988832;22586326;22623428;23722424;23862649;24250222;24457600;24654937;24778252;24816145;8619474;8896555;9110174 11273 H3BMX1;H3BPQ7;H3BQ14;H3BQX7;H3BRB0;H3BSK9;H3BSQ5;H3BUE3;H3BUF6;Q8WWM7 ABBA01045688;AC116346;AC133550;AC145285;AF034373;AF070605;AJ317970;AJ317971;AJ317972;AJ317973;AJ317974;AK289981;AL137587;AMYH02031814;AY188334;AY188335;AY188336;AY188337;AY188338;BC010239;BC068012;BC082760;BC136584;BC144269;CH471267;NM_007245;NM_017492;NM_145714;NM_148414;NM_148415;NM_148416;U70671;XM_005255061;XM_005255062;XM_005255063;XM_005255064;XM_005255065;XM_005255066;XM_005255067;XM_005255068;XM_005255069;XM_005255070;XM_005255071;XM_005255072;XM_005255074;XM_005255075;XM_005255076;XM_005255077;XM_006721007;XM_006721008;XM_006721009;XM_006721010;XM_006721011;XM_006721012;XM_006721013;XR_243256 AAB19201;AAC69607;AAH10239;AAH68012;AAH82760;AAI36585;AAO12056;AAO12057;AAO12058;AAO12059;AAO12060;BAF82670;CAC38068;CAC38069;CAC38070;CAC38071;CAC38072;EAW51986;EAW51987;EAW51988;EAW51989;EAW51990;EAW51991;EAW51992;EAW51993;EAW51994;EAW51995;EAW51996;NP_009176;NP_059867;NP_663760;NP_680780;NP_680781;NP_680782;Q8WWM7;XP_005255118;XP_005255119;XP_005255120;XP_005255121;XP_005255122;XP_005255123;XP_005255124;XP_005255125;XP_005255126;XP_005255127;XP_005255128;XP_005255129;XP_005255131;XP_005255132;XP_005255133;XP_005255134;XP_006721070;XP_006721071;XP_006721072;XP_006721073;XP_006721074;XP_006721075;XP_006721076 Hs.460499 1684481;1696190;1765967;2107869;2130205;2159668;5123977;5124090 ATXN2L_9253;D16S3297;RH66987;RH75914;RH80138;SHGC-149359;SHGC-79036;STS-N24050 A2D;A2LG;A2LP;A2RP OTTHUMP00000122536;OTTHUMP00000122537;OTTHUMP00000122538;ataxin 2 related protein;ataxin-2 domain protein;ataxin-2-like protein;ataxin-2-related protein APPROVED protein-coding ENSG00000168488 HGNC:31326 06394 607931 REVIEWED 2816966 ATXN7L3B ataxin 7-like 3B INTERACTS WITH all-trans-retinoic acid; tamibarotene; torcetrapib 12 12 12 q21 74598676 74602356 + 74931551 74935232 + 74537771 74541452 + 6480464 12477932;14702039;16344560;19615732;23475819;24250222 552889 Q96GX2 ABBA01026479;AC025257;AK056642;AK095526;AL713650;AMYH02026763;BC009111;BX647460;CH471054;CX868912;DA298752;NM_001136262 AAH09111;EAW97284;NP_001129734;Q96GX2 Hs.744849 1653672;1665781;1772599;2172500 1798;D12S1191E;D12S1415;IB3090 FLJ32080;MGC17296 OTTHUMP00000225428;putative ataxin-7-like protein 3B protein-coding HGNC:37931 615579 VALIDATED 1348320 AUNA1 auditory neuropathy, autosomal dominant 1 ASSOCIATED WITH Auditory Neuropathy, Autosomal Dominant, 1 (inferred) 7240710 15520414 378942 HGNC:23205 609129 1342958 ATXN7L3 ataxin 7-like 3 ENCODES a protein that exhibits ligand-dependent nuclear receptor transcription coactivator activity; transcription coactivator activity; INVOLVED IN histone deubiquitination; positive regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN SAGA complex; INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); paracetamol (ortholog); pirinixic acid (ortholog) 17 17 17 q21.31 38977906 38984265 - 42269173 42275747 - 44191805 44199701 - 6480464;8554872 12477932;14702039;15115762;15489334;16713569;16751776;18206972;19615732;19843541;20634802;21746879;23382074 56970 K7EJK2;K7EKG9;K7EMZ3;K7ENU1;K7ENZ2;Q14CW9 ABBA01028383;AC004596;AK056002;AK074344;AK126117;AK296689;AL390158;AMYH02033472;BC024695;BC037418;BC064932;BC100295;BC113595;BC126113;CH471178;DQ588490;NM_001098833;NM_020218;XM_005257526;XM_006721979 AAH37418;AAI13596;AAI26114;ADR82942;BAB71070;BAG59283;CAB99093;EAW51622;NP_001092303;NP_064603;Q14CW9;XP_005257583;XP_006722042 Hs.512651 1791254;2140699;2140701;2172594;2191573;2191769 A005Q19;G20416;MARC_26625-26626:1034086788:1;MARC_7251-7252:996687693:1;MARC_8253-8254:996688461:1;RH16013 DKFZp761G2113 ATXN7L3 {ECO:0000255|HAMAP-Rule:MF_03047};SAGA-associated factor 11 homolog;SAGA-associated factor 11 homolog {ECO:0000255|HAMAP-Rule:MF_03047};ataxin-7-like protein 3;ataxin-7-like protein 3 {ECO:0000255|HAMAP-Rule:MF_03047} protein-coding ENSG00000087152 HGNC:25416 VALIDATED 1606333 ATXN3 ataxin 3 Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009] 14 14 14 q21 72577489 72625559 - 92524896 92572965 - 92058552 92106621 - 6480464;6907045;7240710;8699517 10915768;11121205;11450850;11572863;11804332;12084819;12127147;12166658;12297501;12477932;12486728;12766160;12832059;12857950;12873751;12914917;12938929;12940846;12944423;12944474;14559776;14602712;14659761;14661975;14679302;14746390;14749733;14756671;15026782;15128861;15140190;15210524;15223312;15236410;15265035;15316156;15345714;15489334;15537899;15544810;15630566;15767577;15808507;15952105;16040601;16087686;16118278;16126176;16194547;16196087;16344560;16389595;16525503;16624810;16687213;16712842;16713569;16724006;16791428;16822850;16939621;16967484;17000876;17079677;17082820;17302910;17434145;17440947;17488727;17626202;17632007;17683516;17693639;17696782;17885668;17935801;17948873;17956866;18160752;18182848;18199748;18353661;18358414;18385100;18391950;18391951;18449188;18599482;18781797;18839019;18927607;18990604;19013454;19049837;19065528;19153604;19175675;19185026;19235102;19240029;19259763;19382171;19429074;19492089;19503814;19542537;19575245;19615732;19660550;19661182;19666135;19672991;19714377;19783548;19843543;19935829;20017304;20069235;20140862;20219685;20301317;20301375;20334689;20376803;20414249;20510362;20533274;20546612;20622874;20625959;20637808;20639865;20810784;20865150;20940148;20943656;21060878;21092747;21118805;21139048;21334959;21386698;21504740;21533208;21536589;21625540;21780213;21827905;21832049;21855799;21869492;21890473;21900206;21906983;21963094;21987572;22037589;22053931;22081612;22113611;22118674;22129356;22234302;22419666;22422287;22491195;22505724;22626734;22706685;22761419;22777171;22843411;22970133;23000965;23042605;23100324;23184527;23314748;23349684;23382880;23383273;23562578;23625928;23659897;23824909;23870195;23926002;23993092;24063750;24068323;24100225;24106274;24196352;24654937;24685680;24769000;24865853;25015289;7655453;7825578;7874163;8125298;8358439;8640226;9124802;9274833;9535906;9580663 4287 C9JQV6;D3VVP3;D6R9I5;E9PJN5;F5H211;G3V2G1;G3V2G2;G3V328;G3V390;G3V3A6;G3V3R7;G3V3S5;G3V3T0;G3V3T6;G3V4B1;G3V4F4;G3V4F5;G3V4U9;G3V526;G3V5H3;P54252;S4R399 AB038653;AB050194;AB209309;ABBA01030459;ABBA01030460;ABBA01030461;ABBA01030462;ABBA01030463;AK225884;AK307720;AK314919;AL049872;AL121773;AMYH02029758;BC022245;BC033711;BC095402;BU190081;BU663113;CH471061;DA827537;EU009923;GQ176435;GQ176436;GQ176437;GQ176438;GQ176443;GQ176445;GQ176446;GQ176452;GQ176453;GQ176454;GQ176455;GQ176456;GQ176457;GQ176459;GQ176461;GQ176462;GQ176463;GQ176464;GQ176465;GQ176466;GQ176467;GQ176469;GQ176474;GQ176475;GQ176476;GQ176477;GQ176479;GQ176480;GQ176482;GQ176483;GQ176484;GQ176485;GQ176486;GQ176487;GQ176488;GQ176489;GQ176490;GQ176492;GQ176493;GQ176494;GQ176496;GQ176497;GQ176499;GQ176510;GQ176511;GQ176525;GQ176529;GQ176531;GQ176532;GQ176533;GQ176534;GQ176536;GQ176538;GQ176542;GQ176543;GQ176545;GQ176546;GQ176547;GQ176548;GQ176550;GQ176551;GQ176552;GQ176554;GQ176556;GQ176559;GQ176560;GQ176563;GQ176565;GQ176566;GQ176567;GQ176570;GQ176574;GQ176576;GQ176577;GQ176578;GQ176579;GQ176580;GQ176582;GQ176587;GQ176589;GQ176592;GQ176609;GQ176616;GQ176618;GQ176621;GQ176622;GQ176624;GQ176626;GQ176627;GQ176628;GQ176630;GQ176631;GQ176632;GQ176633;GQ176636;GQ176639;GQ176644;GQ176656;GQ176658;GQ176660;GQ176662;GQ176664;GQ176665;GQ176667;GQ176674;GQ176675;GQ176677;GQ176678;GQ176679;GQ176680;GQ176681;GQ176682;GQ176683;GQ176684;GQ176685;GQ176687;GQ176688;GQ176689;GQ176690;GQ176691;GQ176692;GQ176693;GQ176694;GQ176695;GQ176696;GQ176697;GQ176700;GQ176701;GQ176702;GQ176703;GQ176712;GQ176714;GQ176715;GQ176716;GQ176718;GQ176719;GQ176720;GQ176721;GQ176722;GQ176723;GQ176724;GQ176725;GQ176726;GQ176727;GQ176728;GQ176737;GQ176740;GQ176741;GQ176743;GQ176744;GQ176746;GQ176748;GQ176749;GQ176750;GQ176753;GQ176754;GQ176755;GQ176756;GQ176757;GQ176758;GQ176759;GQ176760;GQ176761;GQ176763;GQ176766;GQ176767;GQ176769;GQ176770;GQ176771;GQ176772;GQ176773;GQ176774;GQ176776;GQ176778;GQ176779;GQ176780;GQ176781;GQ176782;GQ176784;GQ176785;GQ176786;GQ176787;GQ176789;GQ176790;GQ176793;GQ176805;GQ176807;GQ176809;GQ176810;GQ176811;GQ176812;GQ176813;GQ176814;GQ176815;GQ176817;GQ176818;GQ176819;GQ176820;GQ176821;GQ176823;GQ176828;GQ176832;GQ176833;GQ176835;GQ176836;GQ176837;HI179016;HI179018;NG_008198;NM_001127696;NM_001127697;NM_001164774;NM_001164776;NM_001164777;NM_001164778;NM_001164779;NM_001164780;NM_001164781;NM_001164782;NM_004993;NM_030660;NR_028453;NR_028454;NR_028455;NR_028456;NR_028457;NR_028458;NR_028459;NR_028460;NR_028461;NR_028462;NR_028463;NR_028464;NR_028465;NR_028466;NR_028467;NR_028468;NR_028469;NR_028470;NR_031765;S75313;U64820;U64821;U64822 AAB33571;AAB63352;AAB63353;AAB63354;AAH33711;AAH95402;ABM82208;ABS29269;ABW03377;ADD00637;ADD00638;ADD00639;ADD00642;ADD00643;ADD00644;ADD00645;ADD00646;ADD00647;ADD00648;ADD00649;ADD00650;ADD00651;ADD00652;ADD00653;ADD00654;ADD00655;ADD00656;ADD00659;ADD00662;ADD00663;ADD00668;ADD00669;ADD00670;ADD00671;ADD00672;ADD00675;ADD00676;ADD00677;ADD00678;ADD00679;ADD00680;ADD00681;ADD00682;ADD00684;ADD00685;ADD00686;ADD00688;ADD00690;ADD00691;ADD00692;ADD00693;ADD00694;ADD00699;ADD00703;ADD00704;ADD00706;ADD00707;ADD00709;ADD00710;ADD00711;ADD00712;ADD00714;ADD00715;ADD00718;ADD00721;ADD00722;ADD00724;ADD00728;ADD00729;ADD00730;ADD00731;ADD00732;ADD00733;ADD00734;ADD00736;ADD00737;ADD00738;ADD00739;ADD00740;ADD00741;ADD00744;ADD00745;ADD00746;ADD00750;ADD00751;ADD00752;ADD00753;ADD00754;ADD00755;ADD00756;ADD00757;ADD00759;ADD00760;ADD00762;ADD00764;ADD00765;ADD00766;ADD00767;ADD00768;ADD00769;ADD00770;ADD00771;ADD00772;ADD00774;ADD00775;ADD00776;ADD00777;ADD00778;ADD00779;ADD00780;ADD00782;ADD00783;ADD00784;ADD00785;ADD00786;ADD00787;ADD00788;ADD00789;ADD00792;ADD00797;ADD00800;ADD00801;ADD00802;ADD00803;ADD00804;ADD00805;ADD00809;ADD00810;ADD00811;BAB18798;BAB55645;BAB55646;BAD92546;CBX53817;CBX53818;EAW81471;EAW81472;EAW81473;EAW81474;EAW81475;NP_001121168;NP_001121169;NP_001158246;NP_001158248;NP_001158249;NP_001158250;NP_001158251;NP_001158252;NP_001158253;NP_001158254;NP_004984;NP_109376;P54252 Hs.532632 1698424;1739631;1788646;2107871;2110103;2121038;2133108;2142492;2142539;2163762;5016596;5016598;5020635;5020740;5020948;5021369;5037552;5095802;5109281 ATXN3_8472;D14S1196;D14S891E;D14S968;D1S1425;D7S3207;D8S2279;G35435;G35510;G35728;G64288;GDB:631802;L17796;L17809;MJD_SNP1;RH102757;RH18151;RH66122;RH69604 AT3;ATX3;JOS;MJD;MJD1;RP11-529H20.5;SCA3 Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3);Machado-Joseph disease protein 1;OTTHUMP00000221583;OTTHUMP00000221584;OTTHUMP00000221585;OTTHUMP00000221586;OTTHUMP00000221587;OTTHUMP00000231995;OTTHUMP00000231997;OTTHUMP00000245314;OTTHUMP00000245315;OTTHUMP00000245317;OTTHUMP00000245320;OTTHUMP00000245325;OTTHUMP00000245332;ataxin 3 variant h;ataxin 3 variant m;ataxin 3 variant ref;ataxin-3;josephin;olivopontocerebellar ataxia 3;spinocerebellar ataxia type 3 protein APPROVED protein-coding ENSG00000066427 HGNC:7106 06131 109150;607047 REVIEWED 1603419 ATXN8 ataxin 8 Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010] q21 7240710;8699517 16804541;18418692;19203395;19229559;19259763;19714377;20301317;20301445;21827909;22053702;22297462;22577844 724066 Q156A1 DQ641254;GQ176777 ABG34539;ADD00781;Q156A1 Hs.532632;Hs.645205 2113574;5016598 G64288;SCA8_SNP1 ATXN3 ataxin-8;protein 1C2 APPROVED protein-coding HGNC:32925 608768;613289 1346559 ATXN8OS ATXN8 opposite strand (non-protein coding) This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008] 13 13 13 q21 51583416 51615949 + 70681345 70713885 + 70107213 70139753 + 7240710;8699517 10192387;10888605;11697524;11708995;11807410;11919683;12140678;12431257;12505613;12545428;14756671;14960773;14966165;15148151;15152344;15732096;16054804;16804541;17132942;18684474;18708037;18841561;19229559;19235102;19680445;19680539;20301317;20301445;24040107 6315 ABBA01050312;AF126749;AL160391;AMYH02028219;HG505718;NG_016173;NR_002717 Hs.676453 2113574;2128014 D4S2793;SCA8_SNP1 KLHL1AS;NCRNA00003;SCA8 APPROVED ncrna HGNC:10561 603680;608768 REVIEWED 1350736 ATXN7L2 ataxin 7-like 2 INTERACTS WITH atrazine; calcitriol; testosterone 1 1 1 p13.3 108295911 108304776 + 110026533 110035426 + 109483911 109492804 + 737633;6480464 12477932 16710414;16713569;19615732;20125088;20379614;20383146 127002 I6L9B5;Q5T6C4;Q5T6C5;S4R3G5 ABBA01068378;AK090460;AL355145;AMYH02001711;BC036849;BC037582;NM_153340;XM_005270445;XM_005270446 AAH36849;BAC03441;NP_699171;Q5T6C5;XP_005270502;XP_005270503 Hs.118248 1650054 SHGC-75273 FLJ00381;MGC46534 OTTHUMP00000012702;ataxin 7-like 1;ataxin-7-like protein 2 protein-coding ENSG00000162650 HGNC:28713 12506 VALIDATED 1352749 AURKAPS2 aurora kinase A pseudogene 2 10 10 10 q25.3 109734927 109736124 + 116005759 116006956 + 114246000 114247197 + 386665 ABBA01062982;AC005383;AMYH02023849;NG_003111 STK6LP pseudo HGNC:18612 INFERRED 1601974 AUNIP aurora kinase A and ninein interacting protein INVOLVED IN spindle organization; FOUND IN centrosome; spindle pole; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 1 1 1 p36.11 24556593 24581939 - 26158414 26185939 - 25831913 25859458 - 6480464 10737800;12477932;14702039;19322201;20596670;23455924;8125298 79000 Q9H7T9 ABBA01034887;AI198661;AK024326;AK223419;AL020996;AL033528;AMYH02000547;BC000209;BF987554;BJ989876;CH471059;GQ844687;HG491797;NM_001287490;NM_024037 AAH00209;ACV90488;ADZ15753;BAB14886;BAD97139;EAX07863;NP_001274419;NP_076942;Q9H7T9 Hs.149305;Hs.725400 1692164;1716451;1849307;2107369 AL033716;MGC2603__7694;RH121405;SHGC-74421 AIBP;C1orf135;FLJ14264;MGC2603;RP1-317E23.7 OTTHUMP00000008503;aurora A-binding protein;aurora kinase A and ninein-interacting protein;uncharacterized protein C1orf135 APPROVED protein-coding ENSG00000127423 HGNC:28363 08323 VALIDATED 1606265 AURKAIP1 aurora kinase A interacting protein 1 INVOLVED IN positive regulation of proteolysis; FOUND IN intracellular membrane-bounded organelle; mitochondrion; nucleus; INTERACTS WITH all-trans-retinoic acid; atrazine; dimethyl sulfoxide 1 1 1 p36.33 1271320 1273028 + 1309110 1310818 - 1373730 1375438 - 6480464 12244051;12477932;13678582;14702039;15271856;15342556;15489334;16341674;16710414;17207965;17452972;17957726;18029348;18391981;18521620;19221504;20877624;21145461;21319273;21890473;21932983;22356826;8681137 54998 Q6PI41;Q9NWT8 ABBA01016037;AC026283;AJ573456;AK000615;AL139287;AMYH02000097;AW576100;BC022808;BC035595;BC046345;BC062333;BE903314;BF664406;BG764236;BM781908;BP198074;CH471183;DN994953;F31434;NM_001127229;NM_001127230;NM_017900 AAH22808;AAH46345;AAH62333;ADQ32127;BAA91289;EAW56218;EAW56219;NP_001120701;NP_001120702;NP_060370;Q9NWT8 Hs.632515 2131427 RH41935 AIP;AKIP;FLJ20608;MRP-S38 28S ribosomal protein S38, mitochondrial;AURKA-interacting protein;OTTHUMP00000001518;OTTHUMP00000003014;OTTHUMP00000003015;OTTHUMP00000003016;aurora kinase A-interacting protein;aurora-A kinase interacting protein protein-coding ENSG00000175756 HGNC:24114 16457 609183 VALIDATED 1602731 AUP1 ancient ubiquitous protein 1 This gene encodes a protein that contains a domain with homology to the ancient conserved region of the archain 1 gene and a domain that may be involved in binding ubiquitin-conjugating enzymes. The protein encoded by this gene has been shown to bind to the conserved membrane-proximal sequence of the cytoplasmic tail of integrin alpha(IIb) subunits. These subunits play a crucial role in the integrin alpha(IIb)beta(3) inside-out signalling in platelets and megakaryocytes that leads to platelet aggregation and thrombus formation. This gene overlaps the gene for mitochondrial serine protease 25. [provided by RefSeq, Jul 2008] 2 2 2 p13 74584883 74588082 - 74753775 74757019 - 74526648 74529892 - 6480464;8554872 11042152;12042322;12477932;12534237;12534238;14702039;15231748;15489334;16196087;17353931;17725712;18029348;18711132;18781797;19946888;20435896;20562859;21127063;21139048;21857022;21890473;21906983;21963094;21987572;22053931;22268729;22505724;22797925;22990118;23000965;23197321;23223569;23246001;23464991;24039768;25015289;8812468 550 Q9Y679 ABBA01075602;AC005041;AF100746;AF100753;AF100754;AF165515;AI206563;AK023983;AK055566;AK293121;AK301398;AK304886;AK308231;AK310159;AMYH02004091;BC001658;BC033646;CH471053;CR749661;CR999537;NG_012163;NG_033037;NM_181575;XM_005264392;XR_244944 AAD43010;AAD43017;AAD43018;AAF86645;AAH01658;AAH33646;ACE86627;ACE87308;BAB14753;BAF85810;BAG62933;BAG65623;CAH18454;EAW99622;EAW99623;EAW99624;EAW99625;NP_853553;Q9Y679;XP_005264449 Hs.411480 1734746;1734814;2171782;2189429 D2S1537E;D2S1577E;MARC_5801-5802:991939731:1;WI-19737 OTTHUMP00000160424;OTTHUMP00000202724 APPROVED protein-coding ENSG00000115307 HGNC:891 03892 602434 REVIEWED 1314501 AUH AU RNA binding protein/enoyl-CoA hydratase The methylglutaconyl-CoA hydratase, mitochondrial protein binds to the AU-rich element (ARE), a common element found in the 3' UTR of rapidly decaying mRNA such as c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. AUH is also homologous to enol-CoA hydratase, an enzyme involved in fatty acid degradation, and has been shown to have intrinsic hydratase enzymatic activity. AUH is thus a bifunctional chimera between RNA binding and metabolic enzyme activity. A possible subcellular localization in the mitochondria has been demonstrated for the mouse homolog of this protein which shares 92% identity with the human protein. It has been suggested that AUH may have a novel role as a mitochondrial located AU-binding protein. Human AUH is expressed as a single mRNA species of 1.8 kb, and translated as a 40-kDa precursor protein which is subsequently processed to a 32-kDa mature form. [provided by RefSeq, May 2010] 9 9 9 q22.31 64410745 64558849 - 93976097 94124215 - 91213815 91361933 - 1599425;1580863;6480464;6907045;7240710;8554872;8699517 12434311 10072761;11076863;11738050;12477932;12655555;15033206;15489334;15489336;16344560;16381901;16640564;18831052;18978678;20877624;21150874;21840233;21963094;24250222;24598254;7892223;9108262 549 B4DYI6;Q13825 ABBA01012850;ABBA01012851;ABBA01012852;ABBA01012853;AK302453;AL158071;AL353645;AL513353;AMYH02021203;AMYH02021204;AV751432;BC020722;BG706374;CH471089;DA724873;NG_008017;NM_001698;X79888;XM_005252066;XM_005252067;XM_005252068;XM_005252069;XM_005252071;XM_005252072;XM_005252073;XM_006717150 AAH20722;ABM82962;ABM86153;BAG63748;CAA56260;CAL38298;EAW62794;EAW62795;NP_001689;Q13825;XP_005252123;XP_005252124;XP_005252125;XP_005252126;XP_005252128;XP_005252129;XP_005252130;XP_006717213 Hs.175905 1650091;1658425;1706330;1707238;1714679;1718775;1769730;5022450;5022578 D10S275;D1S1423;D9S2075;D9S787;RH120004;RH123078;SHGC-31547;SHGC-79213;SHGC-80730 3-methylglutaconyl-CoA hydratase;AU RNA binding protein/enoyl-Coenzyme A hydratase;AU RNA-binding protein/enoyl-Coenzyme A hydratase;AU-binding protein/Enoyl-CoA hydratase;AU-specific RNA-binding enoyl-CoA hydratase;OTTHUMP00000021631;OTTHUMP00000021632;methylglutaconyl-CoA hydratase, mitochondrial APPROVED protein-coding ENSG00000148090 HGNC:890 08987 250950;600529 REVIEWED 1350150 AURKAPS1 aurora kinase A pseudogene 1 1 1 1 q41 193658730 193660266 - 220439521 220441057 - 220266179 220267715 - 12477932;9605851 6791 ABBA01048081;AL445435;AMYH02002731;BC050630;NG_015837;NR_001587 Hs.654849;Hs.744357 2177179 SHGC-53807 AurAps1;STK6P serine/threonine kinase 6 pseudogene APPROVED pseudo HGNC:18611 VALIDATED 1353168 AURKA aurora kinase A The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13 51683792 51707784 - 54944445 54967351 - 56369389 56392454 - 1580863;1643348;1643346;2293872;2293871;2293873;2293874;2293877;2293884;2293878;2293883;6480464;7240710 14693746;15466974;15754349;16311121;16707419;17349527;17465238;17599395;18314619;18485461 10377410;11039908;11050385;11076863;11256614;11413462;11551964;11780052;11784863;11790771;11847097;11903063;11976319;12177045;12198151;12237287;12244051;12354758;12467573;12477932;12490715;12559175;12631597;12684414;12693093;12716366;12833450;12881723;12883693;12927815;13678575;13678582;14580337;14600264;14602875;14603251;14667408;14692019;14702041;14744757;14990569;15041727;15064709;15078988;15087379;15128871;15147269;15173575;15190214;15271853;15271856;15289843;15469940;15489334;15489336;15504738;15534106;15536123;15592510;15598762;15688402;15749021;15793587;15802297;15839305;15860351;15867347;15880741;15944763;15966895;15987997;16011022;16049965;16080195;16082213;16158051;16332542;16337122;16377583;16381901;16411056;16412566;16572587;16574658;16712791;16767676;16772293;16849685;16860930;16890155;16894566;16912073;16951231;17003782;17018785;17060341;17060449;17102620;17113223;17120309;17125279;17143471;17219423;17229885;17333265;17353931;17390048;17433255;17438137;17441355;17441356;17452972;17457043;17488622;17505013;17563743;17591802;17604723;17627006;17634283;17634533;17634535;17673924;17686574;17705509;17726514;17786310;17850717;17851643;17898866;17908995;17909067;17914111;17925329;17926144;17935280;17939994;17940067;17957726;17974987;18019715;18027856;18043979;18284933;18311783;18321990;18353975;18361427;18361916;18372918;18390187;18391981;18431743;18434591;18466087;18469155;18562694;18566290;18592005;18615013;18628459;18641684;18662907;18663142;18663358;18667445;18669163;18676680;18707550;18708766;18773538;18776222;18790738;18802780;18803637;18812553;18815537;18823025;18854777;18931650;19001879;19028417;19059698;19060929;19074838;19111882;19117984;19124506;19157502;19170196;19197335;19204928;19232520;19306133;19351716;19357306;19412426;19435814;19440020;19487276;19494039;19550118;19551141;19564927;19616898;19625176;19648887;19649632;19652203;19671766;19672706;19690970;19692168;19696028;19738056;19774610;19799648;19801554;19812038;19821797;19822419;19874801;19891769;19901077;19954064;20002563;20003375;20043089;20160025;20168084;20182874;20182906;20189840;20360068;20368716;20371132;20373286;20379614;20382844;20444701;20453000;20459534;20460379;20464476;20585902;20593995;20598352;20603326;20629650;20682043;20708655;20713353;20732714;20819778;20854072;20865660;20922573;20929925;20960027;21045147;21050672;21052088;21059223;21072059;21097701;21099343;21116854;21139048;21147853;21163064;21187329;21198377;21247708;21300005;21347367;21410931;21412660;21441901;21470402;21472690;21479365;21554500;21584819;21589936;21590355;21598251;21600873;21617231;21623171;21670214;21705324;21718475;21731694;21761334;21761347;21774789;21820309;21821029;21822051;21829699;21832049;21840910;21874044;21890473;21890637;21906983;21963094;21978935;21986944;21987572;22011530;22014574;22016509;22094468;22110403;22116466;22207630;22213102;22214762;22222631;22240781;22246202;22262852;22302096;22305495;22306998;22320980;22323290;22340593;22350409;22396649;22451695;22463590;22483753;22492986;22505724;22513362;22522455;22588468;22621899;22753416;22809428;22864622;22894933;22899799;22939629;22940834;23026799;23037716;23047430;23047923;23075505;23092930;23097092;23114921;23151618;23186136;23201157;23204235;23219753;23255113;23273898;23317189;23319376;23322625;23328114;23333597;23334326;23334327;23358695;23411487;23443559;23446853;23481312;23520446;23539442;23547029;23602568;23610398;23627634;23648710;23649807;23661421;23686525;23695679;23761169;23785518;23787073;23788275;23803310;23808327;23821772;23829974;23848594;23887685;23912711;23925655;23934627;23962557;23966163;23970419;23974204;23991974;23993973;24104968;24184958;24240108;24250222;24255178;24273164;24338364;24349361;24452445;24480460;24680704;24756216;24778030;24816145;25002679;9153231;9174055;9514916;9605851;9771714 6790 A3KFJ0;A3KFJ1;A3KFJ2;O14965;Q5QPD1;Q5QPD2;Q5QPD4 ABBA01052891;AF008551;AF011467;AF011468;AF195947;AK301769;AK312776;AL121914;AL711075;AMYH02037339;BC001280;BC002499;BC006423;BC027464;BF029182;BM458030;BQ435059;BU171303;BU542363;CB113289;CB138172;CH471077;D84212;NG_012133;NM_003600;NM_198433;NM_198434;NM_198435;NM_198436;NM_198437;XM_005260534;XM_006723871;XM_006723872 AAC12708;AAC23448;AAC63902;AAF29508;AAH01280;AAH02499;AAH06423;AAH27464;ABM82196;ABM85384;BAA23592;BAG35640;BAG63228;CAL37826;EAW75550;EAW75551;EAW75552;EAW75553;EAW75554;EAW75555;EAW75556;EAW75557;EAW75558;EAW75559;EAW75560;EAW75561;EAW75562;NP_003591;NP_940835;NP_940836;NP_940837;NP_940838;NP_940839;O14965;XP_005260591;XP_006723934;XP_006723935 Hs.250822 1677478;1776446;2177179;5022578 D1S1423;RH12027;RH80570;SHGC-53807 AIK;ARK-1;ARK1;AURA;AURORA2;BTAK;MGC34538;PPP1R47;STK15;STK6;STK7;hARK1 Aurora-A kinase;IPL1-related kinase;OTTHUMP00000031340;OTTHUMP00000031341;OTTHUMP00000031342;OTTHUMP00000031343;OTTHUMP00000031344;OTTHUMP00000031345;OTTHUMP00000166071;OTTHUMP00000166072;aurora 2;aurora-related kinase 1;aurora/IPL1-like kinase;aurora/IPL1-related kinase 1;breast tumor-amplified kinase;breast-tumor-amplified kinase;protein phosphatase 1, regulatory subunit 47;serine/threonine kinase 6;serine/threonine protein kinase 15;serine/threonine-protein kinase 15;serine/threonine-protein kinase 6;serine/threonine-protein kinase aurora-A APPROVED protein-coding ENSG00000087586 HGNC:11393 04066;04352 114500;603072 REVIEWED 1343852 AURKC aurora kinase C This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 54785675 54790201 + 57741750 57746916 + 57230381 57235548 + 1580863;6480464;8554872;8699517 10066797;12477932;12884918;14602875;14671302;15057824;15316025;15499654;15670791;15917996;15938719;16258285;17435757;17637569;18309533;19147683;19649632;19713763;19774610;19953087;20508983;20629650;20663916;21353399;21493633;21531210;21710690;21733974;21890473;21906983;21963094;21987572;21988832;22046298;22087225;22505724;22888167;22939624;22990118;23075505;23292864;23581231;23602568;24484996;9799611;9809744 6795 B4DXA6;M0QX60;M0QYK8;Q5Y191;Q9UQB9 AB017332;ABBA01020814;ABBA01020815;AC005261;AF054621;AF059681;AMYH02036510;AY421575;AY661554;AY714054;BC075064;BX092186;CH471135;NG_012134;NM_001015878;NM_001015879;NM_003160;XR_430209 AAC25955;AAC77369;AAH75064;AAT64422;AAU04399;BAA76292;EAW72485;EAW72486;NP_001015878;NP_001015879;NP_003151;Q9UQB9 Hs.98338 1688257;1797188;5017661 AURKC;RH93146;STK13 AIE2;AIK3;ARK-3;ARK3;AurC;SPGF5;STK13 aurora 3;aurora-C;aurora-related kinase 3;aurora/IPL1-related kinase 3;aurora/IPL1/EG2 protein 2;serine/threonine kinase 13 (aurora/IPL1-like);serine/threonine-protein kinase 13;serine/threonine-protein kinase aurora-C APPROVED protein-coding ENSG00000105146 HGNC:11391 04605 603495 REVIEWED 1350656 AUTS1 autism susceptibility 1 9546821 8311 HGNC:892 1320536 AVEN apoptosis, caspase activation inhibitor INVOLVED IN negative regulation of apoptotic process; FOUND IN intracellular; membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; benzo[a]pyrene 15 15 15 q13.1 10960950 11134340 - 34158428 34331303 - 33866227 34039102 - 1580863;6480464 10949025;12477932;15345747;15489334;15761153;16388850;18303113;18571408;18996102;19096130;19913121;20030919;20379614;20602615;20628086;20800603;20935510;21718987;21906983;22388353;22505724;22751129;23000965;24250222;25015289 57099 H0YKR0;Q9NQS1 ABBA01038546;ABBA01038547;ABBA01038548;ABBA01038549;AC009268;AC010809;AC069045;AF283508;AK025888;AMYH02030144;AMYH02030145;AMYH02030146;AMYH02030147;BC010488;BC063533;BU855198;CH471125;NM_020371;XM_005254563 AAF91470;AAH10488;AAH63533;EAW92281;NP_065104;Q9NQS1;XP_005254620 Hs.555966 1670539;1684343;1685447;1698216;1713111;1719093;1761559;1777191;2133234;2140555;2157250 D15S1263;D15S1355;RH102644;RH120343;RH123264;RH48204;RH66717;RH94176;RH98244;SHGC-145553;WI-15231 PDCD12 OTTHUMP00000159733;cell death regulator Aven;programmed cell death 12 protein-coding ENSG00000169857 HGNC:13509 05588 605265 VALIDATED 1320604 AUTS2 autism susceptibility candidate 2 This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014] 7 7 7 q11.22 62444993 63639505 + 69063905 70257885 + 69598919 70792899 + 1580863;6480464;8554872 12160723;12168954;12477932;12601173;12690205;12853948;18029348;19086053;19240061;19546859;19567891;19913121;20379614;20398908;20628086;20635338;21471458;22325352;22578776;22610502;22693459;22872102;22925353;22995765;23251661;23332918;23349641;23382691;23437340;23455922;23650183;24008202;24859339;8889548;9455477 26053 H7BZZ9;H7C090;H7C0G5;H7C1G5;H7C2P0;L7QF75;Q86WD8;Q8WXX7 AB007902;ABBA01064033;ABBA01064034;ABBA01064035;ABBA01064036;ABBA01064037;ABBA01064038;ABBA01064039;ABBA01064040;ABBA01064041;ABBA01064042;ABBA01064043;ABBA01064044;ABBA01064045;ABBA01064046;AC004773;AC004881;AC004927;AC006012;AC006317;AC006318;AC006319;AC006361;AC073148;AC073873;AC093487;AC093679;AC093685;AF326917;AK025298;AK296981;AMYH02015963;AMYH02015964;AMYH02015965;AMYH02015966;AMYH02015967;AMYH02015968;AMYH02015969;AMYH02015970;AMYH02015971;AMYH02015972;AMYH02015973;AMYH02015974;AMYH02015975;AMYH02015976;AMYH02015977;AMYH02015978;AMYH02015979;AMYH02015980;AMYH02015981;AMYH02015982;AMYH02015983;AW972135;AY211931;BC011643;BC064693;BG208279;BU608023;CA450113;CH236952;CH471140;HI574242;JQ670866;JQ670867;NG_034133;NM_001127231;NM_001127232;NM_015570;XM_005250257;XM_006715920 AAH11643;AAH64693;AAL37411;AAO65184;AAS00369;AAS00371;AAS02044;AAS07446;AAS07468;AAS07486;AFY24235;AFY24236;BAA23714;BAG59522;CBX47610;EAL23968;EAX07895;EAX07896;NP_001120703;NP_001120704;NP_056385;Q8WXX7;XP_005250314;XP_006715983 Hs.21631;Hs.712991 1336515;1336662;1342116;1646950;1649319;1651181;1654349;1661229;1672416;1674886;1684670;1696132;1707486;1711002;1714441;1714827;1716811;1718965;1724677;1739103;1753237;1759697;1770455;1772016;1775583;1786298;1849396;1851743;1853711;1854500;1854615;1856665;2110277;2115722;2117817;2118330;2120141;2127509;2129076;2130061;2136507;2137254;2138151;2139485;2141411;2161745;2167275;2168901;2170296;2171776;2173531;2174412;2177981;2181344;2186774;2186965;7184449;7186545;7186830 1164;1590;AUTS2__4408;D7S1387;D7S1677;D7S1832;D7S1997;D7S2099E;D7S2261;D7S2385E;D7S2435;D7S2500;D7S2798;D7S2803;D7S645;D7S726;D7S769;GDB:1317394;GDB:1317414;GDB:1317678;GDB:1317778;GDB:1317898;GDB:1317946;GDB:1318665;GDB:3754301;GDB:3754413;GDB:4584965;GDB:4585286;GDB:4585349;GDB:4585587;GDB:4585727;RH120213;RH120408;RH121342;RH121701;RH123190;RH35891;RH36141;RH36552;RH48631;RH66649;RH68955;RH91774;SHGC-110082;SHGC-151009;SHGC-153479;SHGC-34763;SHGC-56083;SHGC-56084;SHGC-79069;SHGC-84538;SHGC-84879;STS-AA019937;STS-H09325;WI-11330;WI-21487 FBRSL2;KIAA0442;MGC13140;MRD26 OTTHUMP00000160177;OTTHUMP00000210180;OTTHUMP00000210286;autism susceptibility gene 2 protein;autism susceptibility protein 2 long isoform;autism-related protein 1 protein-coding ENSG00000158321 HGNC:14262 06276 607270 REVIEWED 1351049 AURKBPS1 aurora kinase B pseudogene 1 8 8 8 q23.1 105330362 105331574 - 109143190 109144422 - 108130962 108132194 - 359937;644233 ABBA01037703;AMYH02018587;AP001331;NG_022401 AurBps1 pseudo HGNC:18613 INFERRED 731309 AURKB aurora kinase B This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 17 17 17 p13.1 8136501 8142334 - 8108049 8113944 - 8204731 8210626 - 1580863;2293878;2293877;6480464;8554872 16311121;16707419 10949293;11050385;11413462;11471245;11516652;11756469;11784863;11856369;11976319;12082625;12419797;12466558;12477932;12686604;12689593;12925766;14602875;14610074;14674694;14722118;14744859;14767480;15033491;15064709;15072448;15130946;15249581;15260989;15263015;15280424;15316025;15342556;15489334;15499654;15509656;15562011;15597762;15699543;15761153;15917996;15922328;15923616;15993841;16046481;16103226;16169070;16171786;16179162;16179389;16222244;16222316;16239925;16291752;16565220;16571674;16572587;16762323;16764853;16912073;16916643;16980585;17001311;17084365;17094487;17099693;17164288;17215513;17235564;17274640;17322402;17356064;17457057;17488622;17543862;17558394;17617734;17681274;17686574;17726378;17726514;17914355;17956729;18195732;18201571;18243099;18301241;18463638;18477699;18542055;18563336;18591255;18602486;18628459;18640974;18708766;18710370;18716057;18728397;18767990;18773538;18946085;18974773;19059698;19074838;19074885;19134008;19150808;19157502;19176389;19188929;19189202;19203582;19218110;19225156;19287963;19342897;19357306;19465021;19468067;19494039;19596781;19626681;19649632;19696028;19704020;19774610;19778810;19786723;19823168;19838728;19887622;19951914;19995937;20007324;20112500;20157117;20171103;20177074;20182906;20231380;20231385;20354862;20360068;20368716;20371132;20372054;20430883;20451386;20467329;20471944;20508983;20548097;20562864;20593489;20605920;20619651;20622363;20629633;20629650;20639865;20643881;20651058;20663916;20705812;20732714;20799978;20856855;20864540;20865660;20889715;20929775;20937697;20959462;20960027;21057000;21116854;21139048;21143115;21148584;21222513;21299608;21397507;21397845;21470402;21486945;21554500;21587233;21633354;21646403;21658950;21723127;21775627;21786106;21820309;21822051;21832049;21840910;21844210;21852114;21874044;21875947;21890473;21906983;21963094;21987572;21988832;22011448;22024163;22024481;22087225;22099307;22159225;22222631;22267324;22311150;22350409;22371557;22422861;22449725;22463590;22505724;22611192;22688343;22722494;22724069;22751009;22767597;22801782;22809428;22843098;22865920;22870391;22939624;22940834;22972986;22990868;23000965;23075505;23092930;23095493;23100464;23114921;23226345;23313006;23370391;23416158;23443559;23557198;23562843;23569217;23584797;23613471;23712260;23746640;23750214;23788275;23829974;23901111;23934627;23940115;23951055;23960144;24149858;24187132;24189697;24250222;24255178;24482237;24589731;24616220;24654937;24752893;24756216;24782314;24814515;24857377;24862574;24925910;25036637;9514916;9809983;9858806;9931403 9212 J3KRF8;J3KRJ2;J3KT86;J3KTD6;J3QLN8;J3QR41;Q96GD4 AB011446;AB011450;AB519677;AB519678;AB519679;ABBA01054902;ABBA01054903;AC135178;AF004022;AF008552;AF015254;AK297976;AK314889;AMYH02032923;AX934321;AY677083;BC000442;BC009751;BC013300;BC080581;BE514591;BP225027;BT019534;CH471108;NM_001256834;NM_001284526;NM_004217;XM_005256854 AAB65786;AAC12709;AAC98891;AAH00442;AAH09751;AAH13300;AAH80581;AAV38341;BAA32136;BAA82709;BAG37403;BAG60286;BAI23190;BAI23191;BAI23192;CAF04021;EAW90073;EAW90074;EAW90075;EAW90076;EAW90077;EAW90078;EAW90079;NP_001243763;NP_001271455;NP_004208;Q96GD4;XP_005256911 Hs.442658 1643852;2144829 RH17506;SGC34636 AIK2;AIM-1;AIM1;ARK-2;ARK2;AurB;IPL1;PPP1R48;STK-1;STK12;STK5;aurkb-sv1;aurkb-sv2 OTTHUMP00000135331;aurora 1;aurora kinase B-Sv1;aurora kinase B-Sv2;aurora- and Ipl1-like midbody-associated protein 1;aurora-1;aurora-B;aurora-related kinase 2;aurora/IPL1-related kinase 2;protein phosphatase 1, regulatory subunit 48;serine/threonine kinase 12;serine/threonine-protein kinase 12;serine/threonine-protein kinase 5;serine/threonine-protein kinase aurora-B APPROVED protein-coding ENSG00000178999 HGNC:11390 05397 604970 VALIDATED 731808 AVIL advillin The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008] 12 12 12 q14.1 57849081 57867775 - 58190415 58210193 - 57796632 57818704 - 1580863;6480464 11287316;12034507;12477932;14702039;15096633;18022635;21963094;9664034 10677 F8VNY0;F8VVU1;O75366 ABBA01026693;AC025165;AC121759;AF041449;AK022448;AK314362;AMYH02026596;BC111730;BX647344;CH471054;NM_006576;XM_006719198 AAC25051;AAI11731;BAG36994;EAW97079;EAW97080;NP_006567;O75366;XP_006719261 Hs.584854 1687041;1736248;1777935;2147698;2147700;2148829;2150656;2166322;2184523;5015861;5109281;7185938 A005K05;A006V17;D10S16;D12S1197E;D1S1425;G20278;RH45892;RH65542;RH77844;RH80377;WI-13965 ADVIL;DKFZp779O1812;DOC6;FLJ12386;MGC133244;p92 OTTHUMP00000243877;pervin APPROVED protein-coding HGNC:14188 09816 613397 REVIEWED 68968 AVP arginine vasopressin This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin 2 and a glycopeptide, copeptin. Arginine vasopressin is a posterior pituitary hormone which is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). [provided by RefSeq, Mar 2010] 20 20 20 p13 3125188 3127356 - 3063202 3065370 - 3082556 3084724 - 1579880;734624;1579871;1601243;1580863;1601303;1601304;1601305;1358326;2301917;2301918;2301919;2301924;2304139;2301922;1579891;2303174;2312656;6480464;6907045;7240710;8554872;8699517 12438923;12590641;12623976;12942143;14624682;15897635;16497839;16582573;17393298;17940875;18420743;18431594;18494865;18578860;18925713;18987488;8945633 10369876;10443701;10487710;10677561;11017955;11150885;11161827;11384615;11443218;11713645;11748489;11780052;11836335;11857925;11980620;12012274;12036966;12107248;12359138;12364435;12403649;12477932;12519420;12566732;12931042;13591312;14510916;14579113;14607844;14660745;14673472;14996841;15070970;15203290;15356057;15489334;15538939;15624761;16274233;16333859;16971491;17075130;1740104;17927668;18092379;18172431;18240029;18256370;18272843;18316776;18384079;18402937;1840604;18538351;18673414;18807739;18995178;19086053;19114902;19129716;19260089;19322201;19337789;19366852;19500216;19564455;19638944;19672816;1968469;1978246;19821843;19825939;19847155;19897608;19942636;19945299;20010879;20144509;20368512;20413521;20439785;20468064;20508186;20620528;21088058;21106053;21123762;21216019;21437268;21490073;21498630;21501333;21519298;21554881;21677651;21752550;21766239;21834801;21915168;21960250;22104994;22245314;22286033;22307687;22516290;22524462;22644838;22695750;22820037;22832391;22921847;22954353;23142954;23235301;23246575;23252994;23278971;23298558;23326397;23402790;23499814;23515451;23560938;23584859;23589638;23757433;23973863;24023652;24086383;24156710;24184419;24215469;24270077;24375010;24488583;24722188;2521920;2874053;2991279;3390991;3768139;4065330;6153132;6574452;7271787;7714110;7921229;7929452;8045958;8103767;8106369;8370682;8514868;8550751;8554046;8626836;8794883;8989232;9360520;9467595;9580132;9814475 551 P01185;Q9UMM9;X5DQP6 ABBA01053808;AF031475;AF031476;AI478178;AL160414;AMYH02036591;AMYH02036592;BC018062;BC126196;BC126224;BG715518;CH471133;KJ534777;KJ534778;M11166;M25647;M63733;M63734;NG_008663;NM_000490;X03172;X62890;X62891 AAA61291;AAA69844;AAA98772;AAB86628;AAB86629;AAI26197;AAI26225;AHW56417;AHW56418;CAA26935;CAA44681;CAA44682;EAX10554;NP_000481;P01185 Hs.89648 1684238 RH98810 ADH;ARVP;AVP-NPII;AVRP;VP OTTHUMP00000030089;antidiuretic hormone;arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal);neurohypophyseal;prepro-AVP-NP II;prepro-arginine-vasopressin-neurophysin II;vasopressin-neurophysin 2-copeptin;vasopressin-neurophysin II-copeptin APPROVED protein-coding ENSG00000101200 HGNC:894 01891 125700;192340 REVIEWED 1604629 AVL9 AVL9 homolog (S. cerevisiase) INVOLVED IN cell migration; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN recycling endosome; INTERACTS WITH cyclosporin A; elemental selenium; hydrogen peroxide 7 7 7 p14.3 32519090 32608957 + 32535101 32628327 + 32495489 32588715 + 6480464;8554872 12477932;12690205;14702039;17229886;21890473;22595670;24163370;24816145;9039502 23080 B8ZZW5;H7C0I1;Q8N6Z3;Q8NBF6 AACC02000087;ABBA01056837;ABBA01056838;ABBA01056839;ABBA01056840;ABBA01056841;ABBA01056842;ABBA01056843;AC018633;AC018641;AK090619;AL833560;AMYH02015477;AMYH02015478;AMYH02015479;BC027724;CH471073;D87682;NM_015060;XM_005249668;XM_005249669;XM_005249670;XM_005249671 AAH27724;BAA13435;BAC03489;CAH10387;EAL24439;EAW93992;EAW93993;EAW93994;EAW93995;EAW93996;EAW93997;NP_055875;Q8NBF6;XP_005249725;XP_005249726;XP_005249727;XP_005249728 Hs.128056 1655423;1679427;1735716;1854518;2114685;2132748;2145360;5015961;5024761 D15S1477;D7S1655;D7S1675;D7S2170E;GDB:1318160;RH36905;RH67910;RH92272;WI-15557 DKFZp686G0344;KIAA0241 OTTHUMP00000202740;OTTHUMP00000202741;OTTHUMP00000202742;late secretory pathway protein AVL9 homolog protein-coding ENSG00000105778 HGNC:28994 13788 612927 PROVISIONAL 1349822 AVSD1 atrioventricular septal defect 1 ASSOCIATED WITH Atrioventricular Canal Defect (inferred) 7240710 9002679 7446 1339067;1339494;2158942 D1S1587;D1S3471;D1S406 HGNC:12721 606215 68986 AVPR1A arginine vasopressin receptor 1A The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008] 12 12 12 q14-q15 63208681 63215055 - 63536539 63547971 - 63142287 63154191 - 734625;1579891;1580863;1358326;2300375;2300333;2300334;2300323;2300348;2300322;2300376;2300319;2300330;2300372;2300337;2300338;6480464 10466725;12641544;12942143;14624682;14647048;15475662;15613739;15657301;16423716;16671476;17244947;17347933;17653244;18467593;18508119 10477084;10478574;10756113;10858434;12082568;12436935;12477932;12869559;14622255;14757828;15098001;15489334;15994199;16205790;16333859;16520824;16565083;16721832;16754659;17440932;17696996;17728669;17939166;18240029;18384079;18402937;18490926;18655900;18765804;19056558;19086053;19195791;19350216;19461995;19598235;19874574;19913121;20142561;20368512;20413116;20452058;20468064;20546835;20628086;20889332;21307861;21514569;21747049;21980412;22008661;22288734;22384070;22457427;22764113;24373571;24722188;8012384;8074728;8106369;8344200;8838314;9357056;9581826 552 F8VW98;P37288;X5D2B0 AA533159;ABBA01026625;AC135584;AF030625;AF101725;AF208541;AMYH02026644;AY322550;BC074803;BC074804;CH471054;DQ177277;KJ534779;KJ534780;L25615;NM_000706;S73899;U19906;XM_005269002;Z59305 AAA62271;AAB19232;AAC51861;AAC60638;AAD17891;AAF18470;AAH74803;AAH74804;AAP84363;ABA02557;AHW56419;AHW56420;EAW97115;NP_000697;P37288;XP_005269059 Hs.2131 1721543;1774655;2161982;5110819 D12S1901;G59776;RH48734;STS-L25615 AVPR V1a;AVPR1;V1aR OTTHUMP00000242555;SCCL vasopressin subtype 1a receptor;V1-vascular vasopressin receptor AVPR1A;V1a vasopressin receptor;antidiuretic hormone receptor 1A;vascular/hepatic-type arginine vasopressin receptor;vasopressin V1a receptor APPROVED protein-coding HGNC:895 02894 600821 REVIEWED 1346796 AWAT1 acyl-CoA wax alcohol acyltransferase 1 The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009] X X X q13.1 69807845 69813851 + 69454505 69460511 + 70234655 70240661 + 6480464 12477932;14970677;15671038;15772651 158833 Q58HT5 ABBA01067544;ABBA01067545;AL357752;AMYH02039655;AY947638;BC039181;BN000155;CH471132;NG_013225;NM_001013579;W68831 AAI46429;AAI53035;AAX48018;CAD89266;EAX05353;NP_001013597;Q58HT5 Hs.407641 1701814;2219076 DGAT2L3__4699;DXS1399 DGA2;DGAT2L3 OTTHUMP00000023471;diacyl-glycerol acyltransferase 2;diacylglycerol O-acyltransferase 2-like 3;diacylglycerol O-acyltransferase 2-like protein 3;diacylglycerol acyltransferase 2;long-chain-alcohol O-fatty-acyltransferase 1 APPROVED protein-coding ENSG00000204195 HGNC:23252 10296 300924 REVIEWED 1353971 AVPI1 arginine vasopressin-induced 1 INVOLVED IN activation of MAPK activity (inferred); INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; atrazine 10 10 10 q24.2 93174490 93184285 - 99437181 99447015 - 97677424 97687258 - 6480464 12356727;12477932;15164054;15489334;15498874;16385451;20098747;21832049;8125298;8619474;9110174 60370 Q5T686 ABBA01021791;ABBA01021792;AF131791;AF218019;AF241786;AK024533;AK222493;AK223099;AL355315;AMYH02023612;BC000877;CH471066;NM_021732 AAG17261;AAG44474;AAH00877;ABM82691;ABM85875;BAD96213;BAD96819;EAW49904;EAW49905;NP_068378;Q5T686 Hs.23918 2140089 WI-11858 PP5395;RP11-548K23.7;VIP32;VIT32 AVP-induced protein 1;OTTHUMP00000020225;arginine vasopressin-induced protein 1;vasopressin-induced transcript protein-coding ENSG00000119986 HGNC:30898 16530 VALIDATED 619562 AVPR1B arginine vasopressin receptor 1B The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008] 1 1 1 q32 179215868 179223067 - 206224283 206231482 + 206109849 206117048 - 1579891;1580863;1300290;61542;2312649;6480464 12399951;14624682;19047484;7624319 10477084;10607899;10858434;11884209;12436935;12736162;15094789;15528211;16710414;16754659;17318384;17909131;18240029;18384079;18577758;19598235;19668115;19874574;20351714;20368512;20472303;22341483;22910476;23068076;23422793;24012103;7805841;7929452;8586456;8636444;9357056;9581826 553 P47901 ABBA01001843;ABBA01001844;AC244035;AF030512;AF101726;AF152238;BX571818;CH471067;D31833;DQ194816;DY317849;EU432111;L37112;NM_000707 AAA65687;AAB84293;AAD17892;AAF33681;AAI56079;AAI57127;ABA03171;ABY87910;BAA06621;EAW91596;EAW91597;NP_000698;P47901 Hs.1372 AVPR V1b;AVPR V3;AVPR3;V1bR OTTHUMP00000034344;antidiuretic hormone receptor 1B;arginine vasopressin receptor 3;pituitary vasopressin receptor 3;vasopressin V1b receptor;vasopressin V3 receptor APPROVED protein-coding HGNC:896 02600 600264 REVIEWED 1345749 AXPC1 ataxia, posterior column 1, with retinitis pigmentosa ASSOCIATED WITH Posterior column ataxia with retinitis pigmentosa (inferred) 7240710 9409377;9921862 559 HGNC:906 609033 1606441 AWAT2 acyl-CoA wax alcohol acyltransferase 2 This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010] X X X q13.1 69613775 69623166 - 69260392 69269788 - 70040542 70049938 - 6480464;6907045 12477932;14970677;15220349;15489334;15671038;16106050;20374941 158835 H0YAL0;Q6E213 ABBA01067524;AL158141;AMYH02039653;AY605053;BC063698;BN000156;CH471132;NG_021246;NM_001002254 AAH63698;AAI46453;AAI53071;AAT68764;CAD89267;EAX05358;NP_001002254;Q6E213 Hs.661507 1701092;2109235 DGAT2L4__4700;RH104173 ARAT;DC4;DGAT2L4;MFAT;WS OTTHUMP00000217280;acyl-CoA retinol O-fatty-acyltransferase;diacylglycerol O-acyltransferase 2-like protein 4;diacylglycerol O-acyltransferase candidate 4;long-chain-alcohol O-fatty-acyltransferase 2;multifunctional O-acyltransferase;retinol O-fatty-acyltransferase APPROVED protein-coding ENSG00000147160 HGNC:23251 16799 300925 REVIEWED 730975 AVPR2 arginine vasopressin receptor 2 This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008] X X X q28 153401665 153406333 + 153167985 153172620 + 153902531 153907166 + 1579891;1580863;734626;1298694;628560;2314013;2314015;2314019;2314016;2314017;2314018;2312654;2312656;6480464;6907045;7240710;8554872;8699517 11091117;11882591;12072411;14624682;17020465;17371330;17550212;17941907;18431594;18489790;18971210;19816050 10477084;10561596;10694923;10749568;10770218;10858434;10880054;11026555;11232028;11476731;11754100;11857925;11868598;11916004;11923476;12036966;12409230;12436935;12473660;12477932;12482593;12900404;12960162;1303257;1303271;1324225;1356229;1415251;14757828;15319430;15319442;1534149;1534150;15452133;15489334;15782186;15872203;16115624;16162341;16240160;16267275;16333859;16563128;16580609;16825342;16845277;17101063;17216256;17229917;17389737;17626156;18048502;18199683;18240029;18288441;18323675;18358546;18578504;18726898;18753429;19086053;19094077;19170711;19179480;19217806;19372219;19440390;19449677;19542240;19638944;19703807;19812297;19913121;19996159;20159941;20237496;20301356;20389105;20403097;20628086;20683494;20974815;21574774;21575724;21917732;22052024;22144672;22145481;22386940;22644838;22879391;22965914;23150186;23236378;23362144;23364801;23604254;23762448;23935101;24556353;24944242;2714800;7560098;7833930;7984150;7987330;7999078;8037205;8045948;8078903;8267567;8479490;8514744;8621513;8735975;8882880;8999963;9224808;9402087;9581826;9711877 554 C9JV81;F8WET1;P30518 ABBA01045342;ABBA01045343;ABBA01045344;ABBA01045345;ABBA01045346;ABBA01045347;AF030626;AF032388;AF101727;AF101728;AMYH02040848;AY242131;BC015746;BC033090;BC041642;BC080603;BC101484;BC112181;BG830436;CH471172;FJ411207;L22206;NG_008687;NG_009645;NM_000054;NM_001146151;NR_027419;U04357;U52112;XM_006724828;Z11687 AAA03651;AAB86428;AAB87678;AAC09005;AAD16444;AAD16445;AAI01485;AAI12182;AAO92298;ACR39021;CAA77746;EAW72783;EAW72784;EAW72785;NP_000045;NP_001139623;P30518;XP_006724891 Hs.567240 1702050;1742845;1743951;1744865;1745481;1745483;1745485;1745487;1745489;1745491;1745493;1745495;1745497;1745499;1745503;1745505;1745507;1745509;1745511;1745513;1745515;1745517;1794474;1801248;1801368;1802534;1802906;1803124;1803260;1803970;1804822;1805584;1805934;1806400;1809558;1812288;1812574;1816456;1817150;1817982;1818872;1819318;1820984;1821048;1821050;1821188;1821592;1821856;1824322;1825200;1825668;1827218;1832980;1835646;1838254;1839594;1843974;1844688;1845140;2033854;2033856;2033858;2033860;2033862;2033864;2033866;2033868;2033870;2033872;2033874;2033876;2033878;2033880;2033882;2033884;2033886;2033888;2033892;2033894;2033896;2033898;2033900;2033902;2033904;2033906;2033908;2033910;2033912;2033914;2033916;2033918;2033920;2033922;2033924;2033926;2033928;2033930;2033942;2033944;2033946;2033948;2033950;2033952;2033954;2033956;2033960;2033962;2033964;2033966;2033968;2033972;2033974;2033976;2033978;2033980;2033982;2033984;2033986;2033988;2033990;2033992;2033994;2033996;2033998;2034000;2034002;2034004;2034006;2034008;2034010;2034012;2034014;2034016;2034018;2034022;2034024;2034026;2034028;2034030;2034032;2034038;2034040;2034042;2034044;2034046;2034048;2034050;2034052;2034054;2034056;2034058;2034060;2034062;2034064;2034066;2034068;2034070;2034072;2034074;2034076;2034080;2034084;2034086;2034088;2034090;2034092;2034096;2034098;2034100;2034102;2034104;2034106;2034108;2034110;2034112;2034118;2034120;2034122;2034124;2034130;2034132;2034134;2034136;2034138;2034148;2034152;2034154;2034156;2034158;2034160;2034162;2034164;2034166;2034168;2034170;2034172;2034174;2034176;2034178;2034180;2034182;2034184;2034186;2034188;2034190;2034192;2034194;2034196;2034198;2034200;2034202;2034204;2034206;2102096;2102098;2116353;2137998 DXS8147;ECD01496;ECD01556;ECD02153;ECD02342;ECD02453;ECD02523;ECD02899;ECD03345;ECD03740;ECD03920;ECD04156;ECD05771;ECD07151;ECD07297;ECD09270;ECD09625;ECD10046;ECD10500;ECD10726;ECD11568;ECD11601;ECD11602;ECD11671;ECD11882;ECD12014;ECD13259;ECD13701;ECD13942;ECD14724;ECD17631;ECD18979;ECD20301;ECD20980;ECD23199;ECD23558;ECD23787;GDB:195164;GDB:210765;GDB:377315;GDB:574063;GDB:618098;GDB:618230;GDB:618289;GDB:618293;GDB:618341;GDB:618400;GDB:618484;GDB:618487;GDB:618831;GDB:618836;GDB:618842;GDB:618846;GDB:618849;GDB:618851;GDB:618866;GDB:619117;GDB:619157;GDB:619161;PMC314363P1;REN87936;REN87937;REN87938;REN87939;REN87940;REN87941;REN87942;REN87943;REN87944;REN87945;REN87946;REN87947;REN87948;REN87949;REN87950;REN87951;REN87952;REN87953;REN87955;REN87956;REN87957;REN87958;REN87959;REN87960;REN87961;REN87962;REN87963;REN87964;REN87965;REN87966;REN87967;REN87968;REN87969;REN87970;REN87971;REN87972;REN87973;REN87974;REN87980;REN87981;REN87982;REN87983;REN87984;REN87985;REN87986;REN87987;REN87989;REN87990;REN87991;REN87992;REN87993;REN87995;REN87996;REN87997;REN87998;REN87999;REN88000;REN88001;REN88002;REN88003;REN88004;REN88005;REN88006;REN88007;REN88008;REN88009;REN88010;REN88011;REN88012;REN88013;REN88014;REN88015;REN88016;REN88017;REN88018;REN88020;REN88021;REN88022;REN88023;REN88024;REN88025;REN88028;REN88029;REN88030;REN88031;REN88032;REN88033;REN88034;REN88035;REN88036;REN88037;REN88038;REN88039;REN88040;REN88041;REN88042;REN88043;REN88044;REN88045;REN88046;REN88047;REN88049;REN88051;REN88052;REN88053;REN88054;REN88055;REN88057;REN88058;REN88059;REN88060;REN88061;REN88062;REN88063;REN88064;REN88065;REN88068;REN88069;REN88070;REN88071;REN88074;REN88075;REN88076;REN88077;REN88078;REN88083;REN88085;REN88086;REN88087;REN88088;REN88089;REN88090;REN88091;REN88092;REN88093;REN88094;REN88095;REN88096;REN88097;REN88098;REN88099;REN88100;REN88101;REN88102;REN88103;REN88104;REN88105;REN88106;REN88107;REN88108;REN88109;REN88110;REN88111;REN88112;RH70970;stSG603678;stSG603679 ADHR;DI1;DIR;DIR3;MGC126533;MGC138386;NDI;V2R AVPR V2;OTTHUMP00000026011;OTTHUMP00000026013;OTTHUMP00000198719;antidiuretic hormone receptor;renal-type arginine vasopressin receptor;vasopressin V2 receptor APPROVED protein-coding ENSG00000126895 HGNC:897 02368 300538;300539;304800 REVIEWED 1343191 AZF1 azoospermia factor 1 ASSOCIATED WITH Spermatogenic Failure, Nonobstructive, Y-Linked (inferred) 7240710 560 HGNC:908 415000 1342951 AZF2 azoospermia factor 2 561 HGNC:909 1605000 AXDND1 axonemal dynein light chain domain containing 1 ASSOCIATED WITH Melanoma (inferred); Nephrotic syndrome, idiopathic, steroid-resistant (inferred); INTERACTS WITH calcitriol 1 1 1 q25.2 152443132 152631501 + 179334855 179523870 + 179365718 179554771 + 6480464;8554872 12477932;14702039;19010793;19536175;19913121;20379614;20628086;24250222 126859 A6H900;B1AM31;D6R9B7;D6RDY4;D6REE1;F5GWM2;Q5T1B0 ABBA01027812;ABBA01027813;ABBA01027814;AK057502;AK058167;AK093460;AK302972;AL160286;AL451075;AL833914;AMYH02002233;AMYH02002234;AMYH02002235;BC146823;BX647935;CH471067;NG_033075;NM_144696;NR_073544;XM_006711157;XM_006711158;XM_006711159;XM_006711160;XM_006711161 AAI46824;BAB71513;BAB71698;BAH13864;CAD38770;CAH10571;EAW91045;EAW91046;EAW91047;EAW91048;NP_653297;Q5T1B0;XP_006711220;XP_006711221;XP_006711222;XP_006711223;XP_006711224 Hs.658505 1682958;1688554;1751427;1763875;1774132;1792462;1792464;2113654;2149907;2190751;2219196 AB072743;AL009566;D6S1233E;NPHS2__6070;PMC151634P5;PMC151634P6;RH92018;SHGC-105252;SHGC-147545;SHGC-75886;UniSTS:265599 C1orf125;DKFZp686H1423;FLJ25438;FLJ32940;RP11-215I23.2 OTTHUMP00000033197;OTTHUMP00000033198;OTTHUMP00000217214;axonemal dynein light chain domain-containing protein 1;hypothetical protein LOC126859 APPROVED protein-coding ENSG00000162779 HGNC:26564 08740 VALIDATED 1349667 AXIN2 axin 2 The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008] 17 17 17 q24.1 60094914 60128039 - 63524681 63557740 - 65528563 65561648 - 1580863;2293188;1643593;6480464;6907045;7240710;8554872;8699517 16488995;18432252 10021369;10049590;10647780;10698523;10966653;11017067;11438668;11474173;11940574;12072559;12183362;12477932;15042511;15304487;15489334;15611123;15766563;16247484;16344560;16432638;16601693;16820935;16941501;17002498;17072303;17143297;17373666;17927870;18330950;18372914;18384130;18676680;18683894;18708403;18755497;18790474;19065536;19119171;19170196;19270026;19336002;19584075;19623616;19625176;19692168;19759537;19816326;19888426;20056645;20128690;20219685;20300119;20403997;20453000;20508983;20613673;20635389;20844743;21069480;21294210;21383061;21541676;21626677;21666490;21706018;21733995;21799911;21890473;22322943;22370446;22745173;22887353;23169889;23393221;23455922;23516639;23602568;23624843;23702820;23812285;23838596;24166197;24299953;24554542;8889548;9566905 8313 E7ES00;F5GX43;J3QKQ7;J3QQJ3;J3QRK4;Q9Y2T1 AB052751;ABBA01029043;ABBA01029044;ABBA01029045;AC115994;AF078165;AF205888;AK025718;AK315303;AMYH02033807;AMYH02033808;BC006295;BC101533;BC143244;BE670767;CB306601;CH471099;CR933657;CX756263;CX759580;DA785881;DA839648;NG_012142;NM_004655;XM_005257719 AAD20976;AAF22799;AAH06295;AAI01534;AAI43245;BAB19762;CAI45956;EAW89003;EAW89004;EAW89005;EAW89006;NP_004646;Q9Y2T1;XP_005257776 Hs.156527 1783540;2217052 AXIN2_3354;SHGC-153718 AXIL;DKFZp781B0869;MGC10366;MGC126582;ODCRCS;axin-2 axin-like protein;axis inhibition protein 2;conductin APPROVED protein-coding ENSG00000168646 HGNC:904 04935 114500;604025;608615 REVIEWED 1323764 AXL AXL receptor tyrosine kinase The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 19 19 19 q13.1 38525268 38567818 + 41725104 41767672 + 41219199 41261767 + 1579938;1580863;1579881;1579882;2325834;2325833;6480464;8554872 10528229;11290560;15619028;16285961;19252414 12029073;12364394;12470648;12477932;12490074;12768229;14565870;14729616;14750094;15130893;15507525;15605394;15733062;15958209;15964779;16344560;16354588;16362042;16556867;1656220;16585512;16641895;16831897;17005688;17255529;1729376;18172262;18345028;1834974;18522535;18620092;18673450;18760998;18840707;19055724;19322201;19541935;19567592;19581412;19633687;19657094;19815557;19888345;19913121;20080645;20088931;20145042;20417630;20442363;20546121;20603615;20628086;20637106;20664904;20818175;20922806;21047970;21057535;21068757;21076472;21132014;21135257;21139048;21317930;21343401;21384080;21496277;21501828;21529875;21555911;21796150;21814748;21822309;21842265;21906983;21963094;21987572;22141136;22156524;22187964;22410775;2247464;22489801;22516347;22751098;22833165;22836088;22844123;22890323;22939624;23000965;23071254;23077658;23117882;23242819;23298489;23318455;23321254;23354874;23361052;23372686;23474758;23523856;23527720;23617806;23629654;23648337;23662598;23684620;23707658;23754286;23921085;23940030;23982172;24064382;24170546;24239956;24333418;24347489;24476074;24567414;24904064;7521695;7822279;7854420;8247543;8381225;8610109;8621659;8889549;8939948;9130617;9178760;9492013 558 M0R0W6;P30530 AA021223;ABBA01040801;ABBA01040802;ABBA01040803;AC011510;AI300772;AI309979;AK309139;AK310881;AL556721;AMYH02036131;AMYH02036132;BC032229;CA437238;CH471126;DA478638;HI464132;HI464134;HY045208;KF456581;KF456582;M76125;NM_001278599;NM_001699;NM_021913;S65125;X57019;X66029;X66030 AAA61243;AAB20305;AAH32229;ABM85043;CAA40338;CAA46829;CBX54237;CBX54238;EAW57022;EAW57023;NP_001265528;NP_001690;NP_068713;P30530 Hs.590970 1742015;1742017;1857077;2138338;2158132;2158134;2158284;2165877;5014019;5119931;5119933;5119935;5119937;5119959;5493856 Axl;D5S2354;GDB:188778;GDB:188779;GDB:188780;GDB:188781;GDB:188782;GDB:188783;GDB:191076;RH11461;RH36144;SHGC-12719;STS-T15634;STS-T27746;STS-W84423 JTK11;UFO AXL oncogene;AXL transforming sequence/gene;oncogene AXL;tyrosine-protein kinase receptor UFO APPROVED protein-coding ENSG00000167601 HGNC:905 00171 109135 REVIEWED 735517 AZGP1 alpha-2-glycoprotein 1, zinc-binding ENCODES a protein that exhibits glycoprotein binding; INVOLVED IN cell adhesion; detection of chemical stimulus involved in sensory perception of bitter taste; retina homeostasis; FOUND IN extracellular space; extracellular vesicular exosome; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3-dimethoxynaphthalene-1,4-dione; 5-aza-2'-deoxycytidine 7 7 7 q22.1 94298908 94308290 - 99564350 99573735 - 99966727 99976112 - 6480464 10206894;10462714;10594376;10737800;11425849;12477932;12690205;12853948;13689030;14718574;14760718;14983038;15084671;15340161;15477100;15620688;15862967;16335952;16341674;16475792;16502470;16598739;16712791;16740002;17724461;18567794;18663996;18930737;18978557;1915885;19188554;1918940;19199708;19351730;19549246;19615732;19622624;19846741;19934249;20070991;20360068;2049092;20581862;20595026;20683033;21139048;21245862;21319273;21432866;21443201;21457004;21790656;21791968;21988832;22118674;22425975;22442679;22498882;22625427;22739111;22935975;23272038;23393224;23423258;23448999;23602568;23634719;23849457;23935945;24114735;24188824;24374959;24778252;3422450;6896906;8241150;8307568;8889548;9114041;9239523;9328826;9813179 563 C9JEV0;H7BZJ8;P25311 AA583051;ABBA01013242;AC004522;AI678968;AMYH02016369;AW015837;BC005306;BC005908;BC014470;BC033830;BM796305;CB148270;CB305376;CH236956;CH471091;D14034;D90427;M76707;NM_001185;X59766;X69953 AAA61311;AAH05306;AAH05908;AAH33830;BAA03123;BAA14417;CAA42438;CAA49574;EAL23862;EAW76621;EAW76622;EAW76623;NP_001176;P25311 Hs.546239 1694988;2143016;2157797 AZGP1;D7S2320;G44707 ZA2G;ZAG Alpha-2-glycoprotein, zinc;OTTHUMP00000024684;OTTHUMP00000210306;Zn-alpha2-glycoprotein;alpha-2-glycoprotein 1, zinc;zinc-alpha-2-glycoprotein;zn-alpha-2-GP;zn-alpha-2-glycoprotein protein-coding ENSG00000160862 HGNC:910 01910 194460 VALIDATED 736564 AXIN1 axin 1 This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2010] 16 16 16 p13.3 537339 602420 - 337440 405244 - 287440 355241 - 1300371;1580863;2293188;6480464;6484113;6907045;7240710;8699517;8554872 10700176;18432252 10228155;10330403;10428961;10488109;10581160;10644691;10698523;10811618;10829020;11157797;11297546;11336703;11438668;11487578;11557983;11719457;11809808;11884395;11955436;11997515;12000790;12036951;12072559;12101426;12138115;12192039;12209999;12223491;12417018;12421363;12477932;12511557;12554650;12555076;12556519;12584189;12717450;12771989;12805222;12820959;12883680;12897152;14534723;14566817;14630927;14970870;15063782;15064706;15262978;15327769;15355978;15489334;15520370;15526030;15579909;15616553;15698401;15981102;16163548;16169070;16188939;16199882;16293619;16601693;16753179;16772034;16773576;16868183;16890161;17018282;17143297;17210684;17318175;17353931;17418091;17510365;17560945;17569865;17588722;17601533;17720811;17768662;18171349;18330950;18514389;18593713;18632848;18708403;18762581;19038973;19107203;19131971;19141611;19202075;19249679;19303846;19331826;19390532;19453261;19513548;19582507;19633924;19731416;19759537;19778269;19913121;20098615;20122174;20128690;20379614;20531388;20628086;20844743;20846493;20858899;21057547;21087614;21242974;21383061;21478859;21502811;21648318;21769465;21795712;21799911;21808024;21902576;21988832;22234612;22270359;22504420;22509369;22524844;22613765;22614067;22682247;22933777;23110995;23192643;23277359;23278310;23455922;23525311;23602568;23671587;23826318;23879168;23915259;23959799;24011952;24419084;24451375;24700460;9054936;9230313;9335612;9482734;9601641;9734785;9920888 8312 H0Y830;O15169 AB208876;ABBA01030376;ABBA01030377;ABBA01030378;AC004652;AC005202;AE006463;AF009674;AMYH02031187;AMYH02031188;AMYH02031189;BC017447;BC035872;BC044648;BX648449;CH471112;DB460285;KF615847;KF615848;KF615849;KF615850;KF615851;KF615852;KF615853;KF615854;NG_012267;NM_003502;NM_181050;XM_005255607;XM_005255608;XM_005255609;XM_005255610;Z69667;Z99754 AAC51624;AAH17447;AAH44648;AAK61224;BAD92113;CAI95589;CAI95590;CAQ09649;EAW85835;EAW85836;NP_003493;NP_851393;O15169;XP_005255664;XP_005255665;XP_005255666;XP_005255667 Hs.592082 1792592;1799648;1800188;1801124;1802026;1802124;1802188;1802862;1803264;1803356;1803396;1803508;1803974;1804698;1805856;1806008;1806010;1806066;1807218;1807504;1808100;1808378;1808804;1808952;1809158;1809244;1809488;1809772;1810124;1810250;1810252;1810344;1810626;1810840;1810924;1811622;1811872;1812166;1812518;1812938;1813320;1813660;1814768;1817666;1819178;1819646;1819726;1820350;1822090;1823128;1823868;1824412;1824722;1824960;1826964;1826966;1827478;1827480;1827892;1828318;1828600;1828772;1828774;1828776;1828880;1829996;1830478;1830568;1830662;1831740;1832950;1837656;1838686;1839350;1840066;1841092;1841334;1841444;1841978;1843594;1843822;1844762;1845382;2048520;2048522;2048524;2048526;2048528;2048530;2048532;2048534;2048536;2048538;2048540;2048542;2048544;2048546;2048548;2048550;2048552;2048554;2048556;2048558;2048560;2048562;2048564;2048566;2048568;2048570;2048572;2048574;2048576;2048578;2048580;2048582;2048584;2048586;2048588;2048590;2048592;2048594;2048596;2048598;2048600;2048602;2048604;2048606;2048608;2048610;2048612;2048614;2048616;2048618;2048620;2048622;2048624;2048626;2048628;2048630;2048632;2048634;2048636;2048638;2048640;2048642;2048644;2048646;2048648;2048650;2048652;2048654;2048656;2048658;2048660;2048662;2048664;2048666;2048668;2048670;2048672;2048674;2048676;2048678;2048680;2048682;2048684;2048686;2048688;2048690;2048692;2048694;2048696;2048698;2048700;2048702;2048704;2048706;2048708;2048710;2048712;2048714;2048716;2048718;2048720;2048722;2048724;2048726;2048728;2048730;2048732;2048734;2048736;2048738;2048740;2048742;2048744;2048746;2048748;2048750;2048752;2048754;2048756;2048758;2048760;2048762;2048764;2048766;2048768;2048770;2048772;2048774;2048776;2048778;2048780;2048782;2048784;2048786;2048788;2048790;2048792;2048794;2048796;2048798;2048800;2048802;2048804;2048806;2048808;2048810;2048812;2048814;2048816;2048818;2048820;2048822;2048824;2048826;2048828;2048830;2048832;2048834;2048836;2048838;2048840;2048842;2048844;2048846;2048848;2048850;2048852;2048854;2048856;2048858;2048860;2048862;2048864;2048866;2048868;2048870;2048872;2048874;2048876;2048878;2048880;2048882;2048884;2048886;2048888;2048890;2048892;2048894;2048896;2048898;2048900;2048902;2048904;2048906;2048908;2048910;2048912;2048914;2048916;2048918;2048920;2048922;2048924;2048926;2048928;2048930;2048932;2048934;2048936;2048938;2048940;2048942;2048944;2048946;2048948;2048950;2048952;2048954;2048956;2048958;2048960;2048962;2048964;2048966;2048968;2048970;2048972;2048974;2048976;2048978;2048980;2048982;2048984;2048986;2048988;2048990;2048992;2048994;2048996;2048998;2049000;2049002;2049004;2049006;2049008;2049010;2049012;2049014;2049016;2049018;2049020;2049022;2049024;2049026;2049028;2049030;2049032;2049034;2049036;2049038;2049040;2049042;2049044;2049046;2049048;2049050;2049052;2049054;2049056;2049058;2049060;2049062;2049064;2049066;2049068;2049070;2049072;2049074;2049076;2049078;2049080;2049082;2049084;2049086;2049088;2049090;2049092;2049094;2049096;2049098;2049100;2049102;2049104;2049106;2049108;2049110;2049112;2049114;2049116;2049118;2049120;2049122;2049124;2049126;2049128;2049130;2049132;2049134;2049136;2049138;2049140;2049142;2049144;2049146;2049150;2049152;2049154;2049156;2049158;2049160;2049162;2049166;2049168;2049170;2049172;2049174;2049176;2049178;2049180;2049182;2049184;2049186;2049188;2049190;2049192;2104592;2104594;2104596;2104598;2104600;2104602;2104604;2104606;2104608;2104610;2104612;2104614;2104616;2104618;2104620;2104622;2104624;2104626;2104628;2104630;2104632;2104634;2104636;2104638;2104640;2104642;2104644;2104646;2104648;2104650;2104652;2104654;2104656;2104658;2104660;2104662;2104664;2104666;2104668;2104670;2104672;2104674;2104676;2104678;2104680;2104682;2104684;2104686;2104688;2104690;2104692;2104694;2104696;2104698;2104700;2104702;2104704;2104706;2104708;2104710;2115804;2122394;2137970;2161675;2165274;2181597;2190091;5105080 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AXIN;MGC52315;PPP1R49;axin-1 OTTHUMP00000067405;OTTHUMP00000067406;axis inhibition protein 1;axis inhibitor 1;fused, mouse, homolog of;gsk-3beta interacting protein raxin;hAxin;protein phosphatase 1, regulatory subunit 49 APPROVED protein-coding ENSG00000103126 HGNC:903 04819 114550;603816;607864 REVIEWED 1605352 AZI2 5-azacytidine induced 2 AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008] 3 3 3 p24.1 28300308 28327081 - 28363844 28390915 - 28322353 28349424 - 6480464;6907045 10580148;12359729;12477932;14560022;14702039;14743216;15489334;15611223;16344560;17142768;17568778;17982077;18029348;21139048;21903422;21906983;22539786;23286385;24816145;8889548 64343 C9JGA2;C9JVK8;H7C1Z1;Q9H6S1 ABBA01024980;AC098616;AF044917;AF044918;AK025592;AK290637;AMYH02006456;AY151386;BC001139;BC001853;BG777644;BM546093;BM982133;BX327318;BX386357;BX648471;CB995808;CF528511;CH471055;CS185540;DA485515;NM_001134432;NM_001134433;NM_001271650;NM_022461;XM_005265392;XM_005265393 AAF22368;AAF22369;AAO05967;BAB15182;BAF83326;CAJ42721;EAW64392;EAW64393;EAW64394;EAW64395;EAW64396;EAW64397;EAW64398;NP_001127904;NP_001127905;NP_001258579;NP_071906;Q9H6S1;XP_005265449;XP_005265450 Hs.706676 1681076;1852943;2119800;2133748 RH91098;SGC32735;SHGC-36571;STS-H03343 AZ2;NAP1;TILP 5-azacytidine induced gene 2;5-azacytidine-induced protein 2;NAK-associated protein 1;NF-kappa-B-activating kinase-associated protein 1;OTTHUMP00000161132;OTTHUMP00000208432;OTTHUMP00000208433;OTTHUMP00000208434;OTTHUMP00000226938 APPROVED protein-coding ENSG00000163512 HGNC:24002 10577 609916 VALIDATED 1350566 AZGP1P2 alpha-2-glycoprotein 1, zinc-binding pseudogene 2 7 7 7 q22.1 95939923 95942252 - 100930760 100933089 - 101287479 101289808 - 12477932;12853948;8241150;8307568 401393 ABBA01011338;AC006329;AMYH02016406;NG_008494 pseudo HGNC:912 INFERRED 1352190 B2MR beta-2-microglobulin regulator 7061176 568 HGNC:915 109710 1345072 AZU1 azurocidin 1 Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. The protein encoded by this gene is an azurophil granule antibiotic protein, with monocyte chemotactic and antibacterial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 752397 756781 + 827831 832017 + 827831 832017 + 1580863;6480464;8554872 10510329;10534120;10572086;11170199;11861296;11891183;11980855;11994286;12054586;12135665;12351811;12438368;12465046;12477932;12678126;12826073;14515154;15020208;15057824;1518849;15304323;15489334;15879141;17207965;1755383;18346022;18624398;18787642;1897955;19056867;19151333;1919011;19590686;20056178;20083497;20107486;2026172;20399025;2049091;22145905;22207392;2226832;22278372;2312733;2332502;2404977;2406527;2501794;8506327;8621683;9095193;9761855 566 P20160;Q86SR2 ABBA01002601;AC004799;AMYH02035125;BC044940;BC069495;BC093931;BC093933;CH471139;M96326;NM_001700;X58794 AAB59353;AAH44940;AAH69495;AAH93931;AAH93933;ADQ32951;CAA41601;EAW69592;NP_001691;P20160 Hs.72885 1662123;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;STS-M96326 AZU;CAP37;HBP;NAZC AZAMP;HUMAZUR;azurocidin;cationic antimicrobial protein 37;cationic antimicrobial protein CAP37;heparin-binding protein;neutrophil azurocidin APPROVED protein-coding ENSG00000172232 HGNC:913 01221 162815 REVIEWED 1345717 AZGP1P1 alpha-2-glycoprotein 1, zinc-binding pseudogene 1 7 7 7 q22.1 94312859 94319989 + 99578385 99581860 + 99980762 99984237 + 10737800;12477932;22118674;8241150;8307568 646282 ABBA01013242;AC004522;AK307369;AMYH02016369;CH236956;NR_036679;X70169;X70170;X70171;X70172 Hs.721816 pseudo ENSG00000214313 HGNC:911 VALIDATED 731863 AZIN1 antizyme inhibitor 1 The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014] 8 8 8 q22.3 100025705 100063568 - 103838536 103876905 - 102826308 102864169 - 633333;1580863;6480464;7244195;8554872 21849468;9349715 12477932;12878157;14499622;14702039;15489334;15670771;17353931;17900240;18508777;19322201;19920120;20215859;20217058;21139048;21586232;21837750;21906983;21931692;21963094;21988832;22053931;23291631;23844940;25015289;8619474;9110174 51582 E5RIB7;E5RJ16;O14977;U3KQI8 ABBA01037623;ABBA01037624;ABBA01037625;AF070634;AI671875;AK095493;AK290516;AMYH02018539;AP003354;AP003356;AP003696;AU280209;BC013420;BC019279;BC042404;BM716557;BT006858;CH471060;CR456745;D88674;DB092816;NM_001301668;NM_015878;NM_148174;XM_005250969 AAC25391;AAH13420;AAH19279;AAP35504;ABM81650;ABM83131;ABM83132;ABM86326;BAA23593;BAF83205;BAG53068;CAG33026;EAW91851;EAW91852;EAW91853;NP_001288597;NP_056962;NP_680479;O14977;XP_005251026 Hs.459106 1647360;1771550;1848515;2146735;2162206;2162208;2172835 A001V45;G19701;HSC12A042;RH18526;WI-19200;WI-9274;WIAF-1666 AZI;AZIA1;MGC3832;MGC691;OAZI;ODC1L OAZIN;OTTHUMP00000227423;OTTHUMP00000227424;ornithine decarboxylase 1-like;ornithine decarboxylase antizyme inhibitor APPROVED protein-coding ENSG00000155096 HGNC:16432 07443 607909 REVIEWED 735892 B2M beta-2-microglobulin This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014] 15 15 15 q21-q22.2 21893442 21900114 + 45003685 45010357 + 44711487 44718159 + 1601306;1599429;1601309;2311238;2311237;2311236;2311235;2311211;2311212;6480464;6482693;6482692;6482690;6482706;6482701;6482712;6482704;6482705;6482731;6482713;6483039;6482703;6482709;6482710;6484113;6482707;6482685;6907045;7240710;6482315;8554872;8699517 11572996;12567748;1402029;15127324;15446308;15517379;15837577;15957539;16221094;16282467;16549777;16575857;17214095;17634209;18469311;18777138;18795399;19527385;19536607;20015205;21314441;21546482;21797109;22335434;7605592;9067691 10064069;10199391;10221650;10515878;10638746;10731476;10791995;10933786;10948205;11169396;11257307;11502003;11513152;11676539;11738047;11801591;11847272;11849381;11877296;11894933;11914379;11943769;11967566;11967567;12006623;12023961;12085191;12118248;12119416;12192077;12415263;12454016;12464008;12471623;12477932;12480693;12480959;12488093;12516095;12531797;12738401;12818210;12833155;12850147;12860117;12860118;12897781;12911560;12958308;12968074;1390678;1448153;14681859;14698299;14699107;14764708;15185972;15194307;15249659;15304001;15489334;15494406;15498554;15569716;15610257;15616564;15623356;15667222;15723809;15766269;16024039;16046408;16053447;16098535;16108498;16122756;16126222;16169070;16322574;16331970;16375919;16403526;16475820;16491092;16502470;16509252;16511243;16518752;16601119;16704420;16740750;16841247;16846219;16891806;16901902;16919295;17055437;17057332;17108084;17244347;17348447;17373663;1737380;17498802;17499801;17543888;17597407;17618570;17641012;17646174;17681531;17693474;17766066;17852800;17929129;18022010;18024396;18029348;18036353;18046451;18088490;18164932;18211100;18215070;18245532;18257814;18342332;18393655;18424782;18506145;18543331;18568448;18624398;18674763;18695889;18704411;18708068;18713542;18753422;18765525;18781797;18801425;18835253;18835879;18841160;19010783;19017634;19056867;19059216;19136889;19140844;19148137;19232323;19265139;19284997;19393661;19410618;19483161;19518133;19596084;19728333;19754160;19824733;19829086;19874554;19913121;19946888;20028983;20071336;20088607;20089652;20186038;20237496;20335170;20351246;20372847;2038058;20444690;20558175;20587875;20618438;20628086;20662519;20805697;20828817;20831744;21068391;21085635;21086121;21107472;21127468;21131979;21139048;21216953;21220305;21232804;21332340;21376205;21525950;21624083;21699748;21718071;21870705;21919032;21953582;21963094;22065046;22137796;22211248;22307441;22353804;22373550;22475215;22524657;22566695;22577117;22595828;22683352;22693999;22710694;22793795;22797889;22833104;22859396;22895515;2289831;23000961;23123554;23144825;23225003;23225015;23229474;23242610;23329840;23335043;23417110;23518194;23602568;23645685;23648836;23707648;23717383;23728017;23806216;23849305;23859015;23898101;23904325;23911412;23974249;23975166;23991042;24014031;24078632;2413854;24144106;24262149;24272393;24338476;2450918;24753579;24969158;25015289;25095655;2674742;3048575;3060434;3309677;3312414;4586824;6171820;7554280;7862664;8076819;8432869;8619474;8624812;8769474;8805302;9110174;9228302;93026;9545232;9605335;9714695;9751712 567 F5H6I0;H0YLF3;J3KNU0;P61769;Q16446 AB021288;ABBA01039195;AC018901;AC025270;AC122108;AF072097;AI686916;AK026463;AK303560;AK315776;AMYH02030345;AY007153;AY187687;BC032589;BC064910;BU658737;CH471082;CR457066;DQ217933;DQ839493;DQ839494;DQ884406;HH794631;JB415942;JC068862;M17987;NG_012920;NM_004048;S54761;S82297;S82300;V00567;X07621;XM_005254549;XM_006725182 AAA51811;AAB25312;AAD14387;AAD14388;AAD48083;AAG02006;AAH32589;AAH64910;AAO20842;ABB01003;ABI63354;ABI63355;ABI63373;ABM84637;ABM92168;BAA35182;BAG38125;BAG64583;CAA23830;CAG33347;CBX87172;CDH93686;CDL96999;EAW77276;EAW77277;EAW77278;NP_004039;P61769;XP_005254606;XP_006725245 Hs.534255 1725827;1744457;1770875;1791814;1792480;1794512;2162030;2179254;5122349 D15S799;G62079;GDB:454836;PMC126239P1;PMC151806P1;PMC316580P7;RH76;SGC31499;STS-S82300 OTTHUMP00000161912;beta chain of MHC class I molecules;beta-2 microglobulin;beta-2-microglobin APPROVED protein-coding ENSG00000166710 HGNC:914 00189 109700;241600 REVIEWED 9586592 B3GALNT1P1 beta-1,3-N-acetylgalactosaminyltransferase 1 pseudogene 1 2 2 2 p13.3 69675607 69677622 + 69825016 69826083 + 69597884 69598951 + 100128857 ABBA01075507;AC092431;AMYH02004022;NG_030146 pseudo HGNC:51302 INFERRED 9587212 B3GALNT2P1 beta-1,3-N-acetylgalactosaminyltransferase 2 pseudogene 1 6 6 6 q22.33 130858435 130872343 + 130112049 130125957 + 129790904 129804812 + 100130402 ABBA01025907;AL451046;AMYH02014471;NG_011850 pseudo HGNC:51315 INFERRED 1606188 AZIN2 antizyme inhibitor 2 The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimer's disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014] 1 1 1 p35.1 31816917 31856199 + 33546711 33586132 + 33081110 33120531 + 6480464;6907045;8554872 11587527;11853319;12477932;14702039;14738999;14763899;15489334;16710414;17900240;19718454;19756694;19832840;19956990;20147969;20188728;20217058;24967154 113451 B3KV62;D3DPR0;Q96A70 AB075825;ABBA01023386;AK057051;AK095127;AK122697;AK315677;AL020995;AL832640;AMYH02000727;AW450278;AX505071;AY050634;AY050635;AY050636;AY050637;AY050638;AY325129;BC010449;BC028128;CH471059;DB456925;NM_001293562;NM_001301823;NM_001301824;NM_001301825;NM_001301826;NM_052998;NR_126031;XM_005270404;XM_005270405;XM_005270406;XM_005270407;XM_006710310;XM_006710311;XM_006710312 AAH10449;AAH28128;AAL08049;AAL08050;AAL08051;AAL08052;AAL08053;AAQ62560;ABM82980;ABM86174;BAB71356;BAB85531;BAC04489;BAG38042;BAG53674;CAD48798;EAX07469;EAX07470;EAX07471;EAX07472;EAX07473;EAX07474;EAX07475;EAX07476;EAX07477;EAX07478;EAX07479;EAX07480;EAX07481;EAX07482;NP_001280491;NP_001288752;NP_001288753;NP_001288754;NP_001288755;NP_443724;Q96A70;XP_005270461;XP_005270462;XP_005270463;XP_005270464;XP_006710373;XP_006710374;XP_006710375 Hs.101807 ADC;ARGDC;AZI2;AZIB1;KIAA1945;ODC-p;ODC1L;ODCp ODC antizyme inhibitor-2;ODC-paralogue;OTTHUMP00000004284;OTTHUMP00000004285;OTTHUMP00000004286;arginine decarboxylase;ornithine decarboxylase like;ornithine decarboxylase-like protein;ornithine decarboxylase-paralog APPROVED protein-coding ENSG00000142920 HGNC:29957 17657 608353 REVIEWED 1315510 B3GALT5 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants have been observed for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2013] 21 21 21 q22.3 26226688 26232244 + 40928369 41034816 + 39556442 39662889 + 1580863;2317558;6480464;6907045;8554872 14555842 10212226;10406968;10580128;10830953;11058588;11337467;12477932;12855703;14534330;14686931;15263012;15489334;16112824;16484342;16780588;17107959;17212986;19136585;19225246;19567891;20494980;21041247;2187500;22001559;22101162;24128890;2541446;2542563;2649653;2829950 10317 Q9Y2C3 AB020337;AB041413;AB041416;ABBA01009331;ABBA01009332;AF064860;AF121897;AF145784;AJ006078;AK292951;AL163280;AMYH02037834;AU100432;AW136254;AY372061;BC104862;BC104864;CH471079;DQ645732;DQ645733;DQ645734;DQ645735;DQ645736;DQ645737;DQ645738;NM_001278650;NM_006057;NM_033170;NM_033171;NM_033172;XM_005260912 AAF07880;AAI04863;AAI04865;AAR08910;BAA77664;BAA94498;BAA94501;BAF85640;CAB90446;CAB91547;EAX09628;EAX09629;EAX09630;EAX09631;EAX09632;NP_001265579;NP_006048;NP_149360;NP_149361;NP_149362;Q9Y2C3;XP_005260969 Hs.733638 2219026;5492851 B3GALT5__4412;UniSTS:483043 B3GalT-V;B3GalTx;B3T5;GLCT5;b3Gal-T5;beta-3-Gx-T5;beta3Gal-T5;beta3GalT5 GlcNAc-beta-1,3-galactosyltransferase 5;OTTHUMP00000109186;UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 5;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5;beta-1,3-GalTase 5;beta-1,3-galactosyltransferase 5;beta-3-galactosyltransferase 5;homolog of C. elegans Bt toxin resistance gene bre-5 APPROVED protein-coding ENSG00000183778 HGNC:920 06818 604066 REVIEWED 1347261 B3GALT2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008] 1 1 1 q31 166257459 166265341 - 193147860 193155743 - 193178730 193186613 - 1580863;6480464;6907045 10580128;11318611;12477932;15489334;16344560;16710414;17207965;18565761;2187500;21988832;2541446;2542563;2649653;2829950;9417100;9582303 8707 O43825 ABBA01027636;AF288390;AK314116;AL390863;AMYH02002383;BC022507;CH471067;CS265714;DA116294;NG_012691;NM_003783;Y15060 AAG60610;AAH22507;ADQ32440;BAG36808;CAA75344;CAJ78385;EAW91251;NP_003774;O43825 Hs.518834 1746457;1847722;2219024 B3GALT2_4411;G64641;SHGC-76070 BETA3GALT2;GLCT2;beta3Gal-T2 OTTHUMP00000033797;UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2;beta-1,3-GalTase 2;beta-1,3-galactosyltransferase 2;beta-3-galt2 APPROVED protein-coding ENSG00000162630 HGNC:917 04313 603018 REVIEWED 1343637 B3GALT4 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34799275 34800960 + 33244917 33246602 + 33277140 33278825 + 1580863;6480464;6907045 10580128;10663566;12477932;14574404;15489334;16169070;16303743;18193043;18565761;19225246;19851445;20594196;21519903;2187500;21900206;21988832;2541446;2542563;2649653;2829950;8889548;9582303 8705 B3KQP5;O96024;Q5STJ7 AB022537;AB026730;ABBA01038139;AF063595;AK075312;AK315647;AL031228;AL662820;AL662827;AL844527;AMYH02013483;BC032574;BU740293;CH471081;CR457093;CR759786;CR759817;FJ525877;NM_003782;Y15061 AAG43154;AAH32574;ABW03296;ABW03644;ACN81315;BAA88988;BAG38014;BAG52107;CAA20230;CAA75345;CAG33374;EAX03700;NP_003773;O96024 Hs.534375 1668110;1685556;1694606;2184242 G43302;RH12439;RH12532;RH77 BETA3GALT4;GALT2;GALT4;b3Gal-T4;gal-T2 OTTHUMP00000029128;UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase;beta-1,3-GalTase 4;beta-1,3-galactosyltransferase 4;beta-3-galactosyltransferase 4;ganglioside galactosyltransferase APPROVED protein-coding ENSG00000235863 HGNC:919 04370 603095 REVIEWED 1312449 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. [provided by RefSeq, Jul 2008] 3 3 3 q25 159223899 159245387 - 160801671 160823160 - 161083883 161105372 - 6480464;6907045;8554872 10580128;10993897;12023287;12477932;12975309;14702039;15142124;15489334;16344560;17207965;18565761;18839200;19264528;2187500;21988832;23599027;23927681;2541446;2542563;2649653;2829950;6425294;8125298;9405390;9582303 8706 B3KTQ4;C9J0F8;C9J6I7;C9J8U7;C9JD16;C9JRV6;C9JXR0;E7EVF0;E7EVS2;O75752;Q49AT3;Q7L9G8;Q8TDY1 AB050855;AB050856;AB060691;ABBA01058790;AC021649;AF132731;AF154848;AF494103;AF494104;AF494105;AF494106;AI093705;AI214215;AK022491;AK095917;AK223439;AMYH02008029;AW151434;AY359049;AY505344;AY505345;AY505346;AY505347;BC028571;BC047618;CH471052;CR457170;DA188324;DB172381;DQ158095;NG_007854;NM_001038628;NM_003781;NM_033167;NM_033168;NM_033169;XM_005247859;XM_005247861;XM_005247862;XM_005247864;XM_006713802;XM_006713803;XM_006713804;XM_006713805;XM_006713806;Y15062 AAF66442;AAF72106;AAH28571;AAH47618;AAM96009;AAM96010;AAM96011;AAM96012;AAQ89408;AAS79228;AAS79229;AAS79230;AAS79231;AAZ67917;ADQ32503;BAB14055;BAB17690;BAB17691;BAB91079;BAD97159;BAG53166;CAA75346;CAG33451;EAW78621;EAW78622;EAW78623;EAW78624;EAW78625;NP_001033717;NP_003772;NP_149357;NP_149358;NP_149359;O75752;XP_005247916;XP_005247918;XP_005247919;XP_005247921;XP_006713865;XP_006713866;XP_006713867;XP_006713868;XP_006713869 Hs.418062 1651717;1681598;1697586;1735320;1853960;2147024 D3S2352;D3S2950E;D3S3949;RH102303;RH94057;SHGC-77497 B3GALT3;GLCT3;GLOB;Gb4Cer;P;P1;beta3Gal-T3;galT3 OTTHUMP00000213972;OTTHUMP00000213973;OTTHUMP00000213974;OTTHUMP00000213975;OTTHUMP00000213976;OTTHUMP00000213978;OTTHUMP00000213979;OTTHUMP00000213980;OTTHUMP00000213981;OTTHUMP00000213983;OTTHUMP00000213984;P antigen synthase;P blood group globoside;UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group);UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1;UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group);UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase;b3Gal-T3;beta-1,3-GalNAc-T1;beta-1,3-GalTase 3;beta-1,3-galactosyltransferase 3;beta-3-Gx-T3;beta3GalT3;brainiac1;galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase;globoside synthase;globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase;udp-gal:betaglcnac beta 1,3-galactosyltransferase, polypeptide 3 APPROVED protein-coding ENSG00000169255 HGNC:918 09119 603094 REVIEWED 1345395 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013] 1 1 1 q42.3 208853777 208911041 - 235610505 235667781 - 235440986 235504481 - 6480464;8699517;7240710;8554872 12477932;14702039;14724282;15489334;16710414;21890473;22268729;23453667;24250222;24285400 148789 Q8NCR0 AB209046;ABBA01033137;AK091497;AK130297;AK311626;AL135928;AMYH02002945;AMYH02002946;AW513183;BC016974;BC029564;BQ221255;CH471098;FO393422;NG_033219;NM_001277155;NM_152490;XM_005273071;XM_006711749;XM_006711750 AAH16974;AAH29564;BAD92283;CAI21727;CAI21728;EAW70026;EAW70027;EAW70028;NP_001264084;NP_689703;Q8NCR0;XP_005273128;XP_006711812;XP_006711813 Hs.498143 1688026;2163340;5015619;5015861;5015961;5020948;5037552;5109281;7185938 D10S16;D11S3114;D15S1477;D1S1425;D8S2279;G35510;RH70688;RH92081 B3GalNAc-T2;MDDGA11;MGC39558 OTTHUMP00000038285;UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2;UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2;UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2;beta 1,3-N-acetylgalactosaminyltransferase-II (MGC39558);beta-1,3-GalNAc-T2;beta-1,3-N-acetylgalactosaminyltransferase II;beta-1,3-galactosaminyltransferase 2 protein-coding ENSG00000162885 HGNC:28596 16533 610194;615181 REVIEWED 1323596 B3GALT1 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008] 2 2 2 q24.3 162284031 162336209 + 168346692 168727366 + 167490182 167870856 + 1580863;6480464;6907045;8554872 10356986;10580128;12477932;12925779;15489334;15815621;18565761;2187500;23251661;2541446;2542563;2649653;2829950;9417100;9582303 8708 Q9Y5Z6 AB041407;ABBA01004948;AC016723;AC017070;AC074363;AC105255;AF117222;AMYH02005161;BC101545;BC104813;CH471058;E07739;NM_020981;XM_005246931;XM_006712819 AAD23451;AAI01546;AAI04814;AAY15002;BAA94492;EAX11306;EAX11307;NP_066191;Q9Y5Z6;XP_005246988;XP_006712882 Hs.735833 1338140;2218280;5492973;5494055 B3GALT1_4410;D2S2345;UniSTS:480848;UniSTS:483473 MGC126594;beta3Gal-T1 UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1;beta-1,3-GalTase 1;beta-1,3-galactosyltransferase 1;beta-3-galt1;beta3GalT1 APPROVED protein-coding HGNC:916 04369 603093 REVIEWED 733365 B3GAT1 beta-1,3-glucuronyltransferase 1 The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 11 11 11 q25 131420912 131454041 - 134248398 134281880 - 134378504 134411986 - 6480464;6907045 10526176;10783264;10946001;11788581;11986319;12433688;12477932;12687271;12874601;12883721;14993226;15626024;15879103;16257185;16807373;17035093;17567734;18201430;18383036;18802400;19343046;19564339;19794085;20229169;20525712;20696944;20733159;20950796;21056957;21491089;21908519;21988832;22127595;22310831;22496218;22900004;23287865;23333304;23468834;23637420;24277619;24585893;24740502;24843874;8619474;9110174 27087 Q9P2W7 AB029396;ABBA01031117;AF131769;AK299637;AL834455;AMYH02025835;AP003971;BC010466;CR457098;NM_018644;NM_054025;XM_005271506;XM_005271507;XM_005271508;XM_005271509;XM_005271510 AAH10466;ABM84250;ABM86204;ABM87639;BAA96077;BAH13084;CAD39115;CAG33379;NP_061114;NP_473366;Q9P2W7;XP_005271563;XP_005271564;XP_005271565;XP_005271566;XP_005271567 Hs.381050 1672507;2121695;2185957 STS-Z40857;WI-13607;WI-15127 CD57;GLCATP;HNK1;LEU7;NK-1;NK1 GLCUATP;LEU7 antigen;OTTHUMP00000235432;UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1;glcUAT-P;glucuronosyltransferase P APPROVED protein-coding ENSG00000109956 HGNC:921 06969 151290 REVIEWED 1343351 B3GALT5-AS1 B3GALT5 antisense RNA 1 INTERACTS WITH copper(2+) sulfate; valproic acid 21 21 21 q22.2 26166505 26182180 - 40969074 40984749 - 39597147 39612822 - 6480464 11181995;12036297;12477932;15489334;16344560;20494980 114041 K4DI91;P59052 ABBA01009332;AF064860;AF426266;AF426267;AK129590;AMYH02037834;BC062296;BC080530;BC119737;BC119738;BG751912;CH471079;DA218783;LN608877;LN608879;NR_026542;NR_026543 AAM53522;AAM53523;BAC85189;EAX09633;EAX09634;EAX09635;EAX09636;P59052 Hs.375120 1730867;2168889 D21S1983;D21S397 C21orf88;FLJ26079 APPROVED ncrna ENSG00000184809 HGNC:16424 09847 VALIDATED 2306330 B3GAT3P1 beta-1,3-glucuronyltransferase 3 pseudogene 1 3 3 3 q25.33 158592181 158593614 + 160170156 160171597 + 160452368 160453809 + 11535117 402146 AB049116;ABBA01058796;AC024221;AMYH02008019;NG_005351 5017684 B3GAT3 B3GAT3P;PSIGLCAT-I APPROVED pseudo HGNC:35243 INFERRED 1348026 B3GAT2 beta-1,3-glucuronyltransferase 2 The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008] 6 6 6 q13 71959433 72055143 - 71566914 71667101 - 70861366 70957085 - 1580863;6480464;6907045 11853319;12477932;12522689;14574404;14702039;15039073;15470230;16344560;16897771;19913121;20628086;20950796;21326311;23251661 135152 Q29RV3;Q9NPZ5 AB075843;ABBA01040271;ABBA01040272;AK055248;AK290018;AL121961;AL450320;AMYH02013880;AY070019;AY070110;BC101163;BC101165;BC113995;CH471051;DA782678;NM_080742;XM_006715346 AAI13996;AAL57718;AAL58977;BAB70889;BAB85549;BAF82707;EAW48804;NP_542780;Q9NPZ5;XP_006715409 Hs.713609 1661027;1673583;1689113;1739949;1853331;1855891;2119078;2136715;2138387;2140889 A003B38;D20S768;D6S1180E.1;D6S1220E;D6S1413;RH15822;RH18293;RH75302;SHGC-30828;WI-13200 GLCATS;KIAA1963;MGC138535 OTTHUMP00000016710;UDP-glucuronosyltransferase S;UDP-glucuronyltransferase S;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2;glcAT-D;glucuronosyltransferase S;uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase APPROVED protein-coding HGNC:922 06325 607497 REVIEWED 1604745 B3GALTL beta 1,3-galactosyltransferase-like The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009] 13 13 13 q12.3 12841849 12974020 + 31774112 31906413 + 31199975 31332276 + 6480464;6907045;7240710;8554872;8699517 12477932;12943678;14702039;15057823;15489334;16344560;16899492;16909395;17032646;18199743;18798333;19322201;19796186;20301637;20379614;21067481;21671750;22759511;23455636;23954224;24816145 145173 Q6Y288 AA769548;AB101481;ABBA01010122;ABBA01010123;ABBA01010124;AK094979;AK291273;AL137142;AL138965;AMYH02027808;AMYH02027809;AMYH02027810;AMYH02027811;AMYH02027812;AMYH02027813;AV728071;AY190526;BC031597;BC032021;BC047395;BC068595;BX647932;CH471075;DA290408;DN999521;KF455752;NG_011732;NM_194318;XM_006719768 AAH68595;AAO37647;BAD13528;BAF83962;EAX08483;NP_919299;Q6Y288;XP_006719831 Hs.13205 1675770;1679321;1679886;1681777;1738397;1758261;1858275;2113336;2113374;2113432;2113456;2121319;2135545;5092694 A005Q24;D13S1729;D13S1750;D13S1780;D13S1793;D13S664E;G30975;G32270;RH25845;RH48618;RH92132;RH92545;RH92639;SHGC-147825 B3GLCT;B3GTL;B3Glc-T;Gal-T;beta3Glc-T OTTHUMP00000018218;UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like;beta 3-glycosyltransferase-like;beta-1,3-glucosyltransferase;beta-3-glycosyltransferase-like APPROVED protein-coding ENSG00000187676 HGNC:20207 12513 261540;610308 REVIEWED 9587213 B3GNT2P1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 pseudogene 1 X X X 99662236 99663455 - 99141739 99142958 - 99886741 99887960 - 100422469 ABBA01064233;AL390027;AMYH02040051;NG_026739 pseudo HGNC:51316 INFERRED 1323698 B3GAT3 beta-1,3-glucuronyltransferase 3 The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013] 11 11 11 q12.3 59712332 59719018 - 62382768 62389647 - 62615296 62622175 - 1580863;6480464;6907045;8699517;7240710;8554872 10526176;10842173;10946001;11535117;12477932;12794088;15231747;15489334;15522873;15601778;17207965;17567734;18400750;19199708;19946888;20301725;21763480;21882400;21988832;24816145;9506957;9927678 26229 E9PNA1;E9PQ60;G3V150;O94766;Q5U676 AB009598;ABBA01003230;AJ005865;AK075166;AK297970;AK310200;AK316228;AMYH02024893;AMYH02024894;AP001458;BC007906;BC011173;BC019832;BC071961;CH471076;NG_031863;NM_001288721;NM_001288722;NM_001288723;NM_012200;NR_109991 AAH07906;AAH19832;AAH71961;ADQ32307;BAA34537;BAG60280;BAH14599;CAA06742;EAW74042;EAW74043;EAW74044;NP_001275650;NP_001275651;NP_001275652;NP_036332;O94766 Hs.502759 2109077;2128657;2157835;5014051;5017684 B3GAT3;B3GAT3_9473;D8S2278;ROM1;WI-9219 glcUAT-I GLCATI;OTTHUMP00000236456;OTTHUMP00000236457;OTTHUMP00000236459;Sqv-8-like protein;UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase;beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I);galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3;glucuronosyltransferase I APPROVED protein-coding ENSG00000149541 HGNC:923 07564 245600;606374 REVIEWED 1601928 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) ENCODES a protein that exhibits galactosyltransferase activity; INVOLVED IN cellular protein metabolic process (inferred); O-glycan processing (inferred); post-translational protein modification (inferred); PARTICIPATES IN O-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; arsenous acid; diarsenic trioxide 11 11 11 q13.4 74052931 74060511 + 76745385 76753020 + 77034341 77041973 + 6480464;6907045;8554872 11821425;12477932;15203218;15755813;16344560;19395705 192134 A8K9Q8;E9PJ79;Q6ZMB0 AB073740;ABBA01017441;ABBA01017442;AK127544;AK172863;AK292773;AK313682;AMYH02025130;AP000752;BC025357;BC103908;BC103909;BC103910;CD636501;CH471076;DA437068;DA439499;FP884229;NM_138706 AAH25357;AAI03909;AAI03910;AAI03911;BAB88882;BAC87028;BAD18819;BAF85462;BAG36432;EAW75013;NP_619651;Q6ZMB0 Hs.352622 5015961;5020885 D15S1477;L17791 B3Gn-T6;BGnT-6;IMAGE:4907098;MGC119334;MGC119336;MGC119337;beta-1,3-Gn-T6;beta3Gn-T6 OTTHUMP00000229266;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-N-acetylglucosaminyltransferase protein;core 3 synthase protein-coding ENSG00000198488 HGNC:24141 16534 615315 VALIDATED 1319963 B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013] 1 1 1 p36.33 1413233 1416025 - 1167629 1170421 + 1232249 1235041 + 1580863;6480464;6907045;8699517;8554872;7240710 11551958;12477932;15231747;16710414;19913121;19946888;20628086;21139048;23664117;23664118;24250222;9892646 126792 Q499Z2;Q96L58 ABBA01016023;ABBA01016024;AL162741;AMYH02000083;AMYH02000084;BC015549;BC041621;BC051719;BE249959;BF002665;BG290330;CH471183;NG_030007;NG_033265;NM_080605 AAH51719;AAI60034;EAW56269;NP_542172;Q96L58 Hs.284284 1851909;2185123;5493157 SHGC-74127;SHGC-74129;UniSTS:484488 EDSP2;SEMDJL1;beta3GalT6 GAG GalTII;OTTHUMP00000001756;UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6;beta-1,3-GalTase 6;beta-1,3-galactosyltransferase 6;beta3Gal-T6;galactosyltransferase II;galactosylxylosylprotein 3-beta-galactosyltransferase protein-coding ENSG00000176022 HGNC:17978 12509 271640;615291;615349 REVIEWED 735674 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008] 3 3 3 q28 181406353 181426501 + 182971032 182991179 + 183253244 183273391 + 70806;1580863;6480464;6907045 11283017 11384981;12477932;14702039;15342556;18483624;20734064;21988832;22411838;8889548 84002 C9IYY0;C9J368;C9J5K2;Q9BYG0 AB045278;AB209517;ABBA01058481;ABBA01058482;AC069417;AF368169;AJ304505;AK074235;AK074424;AK091474;AMYH02008283;AX172417;AX394744;AX394746;BC028058;BF001695;BP270576;BU684277;CH471052;NM_032047;XM_005247823;XM_005247824;XM_005247825;XM_005247826;XM_005247827 AAH28058;AAK53403;ABM81996;ABM85178;BAB40940;BAD92754;BAG52370;CAC43634;CAC83093;CAD32047;CAD32048;EAW78333;EAW78334;EAW78335;EAW78336;NP_114436;Q9BYG0;XP_005247880;XP_005247881;XP_005247882;XP_005247883;XP_005247884 Hs.718506 1654658;1686630 RH98948;WI-13813 B3GN-T5;BGnT-5;beta-1,3-Gn-T5;beta3Gn-T5 OTTHUMP00000212932;OTTHUMP00000212935;OTTHUMP00000212936;OTTHUMP00000212937;UDP-GlcNAc:beta-Gal beta-1,3-N-acetylglucosaminyltransferase 5;beta 1,3 N-acetyglucosaminyltransferase Lc3 synthase;beta-1,3-N-acetylglucosaminyltransferase 5;beta-1,3-N-acetylglucosaminyltransferase bGnT-5;lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase;lactotriaosylceramide synthase;lc(3)Cer synthase;lc3 synthase APPROVED protein-coding ENSG00000176597 HGNC:15684 12511 615333 REVIEWED 1319932 B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 63432751 63435069 - 66112843 66115161 - 66345372 66347690 - 1580863;6480464;6907045;8699517;7240710 12477932;15489334;16303743;16344560;19261593;19587235;21139048;21926972;22268729;23080069;23284715;23359570;23877401;8125298;9405606 11041 B4DGI0;O43505 ABBA01024083;AF029893;AK075354;AK098389;AK098779;AK225182;AK293715;AK294604;AMYH02024975;AP001107;BC021965;CH471076;DA169103;DQ066422;NG_033202;NM_006876 AAC39538;AAH21965;AAY46155;ABM83632;ABM86883;BAG52119;BAG57146;BAG57791;EAW74517;EAW74518;NP_006867;O43505 Hs.8526 1671534;1767608 STS-W44699;WI-20154 B3GN-T1;B3GNT6;BETA3GNTI;MDDGA13;iGAT;iGNT N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase;OTTHUMP00000235058;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-N-acetylglucosaminyltransferase bGnT-6;i-beta-1,3-N-acetylglucosaminyltransferase;poly-N-acetyllactosamine extension enzyme APPROVED protein-coding ENSG00000174684 HGNC:15685 09270 605517;615287 REVIEWED 1320043 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008] 12 12 12 q24 122277574 122281430 + 122688228 122692677 + 122203681 122207537 + 6480464;6907045 10580128;11042166;12477932;12975309;14702039;16169070;21145461;23263486;24250222 79369 Q9C0J1 AB049586;ABBA01060479;AC048338;AF321825;AJ130848;AJ278962;AK095746;AL834452;AMYH02027416;AY358940;BC030247;BC031399;CH471054;NM_030765 AAH31399;AAL37219;AAQ89299;ABM82210;ABM85395;BAB21532;BAC04622;CAC45045;CAC82375;CAD39112;EAW98308;EAW98309;NP_110392;Q9C0J1 Hs.363315 1666483;1686096;2167553;2186117 D12S1399;D12S1578;NIB962;RH48119 B3GN-T4;BGnT-4;beta-1,3-Gn-T4;beta3Gn-T4 OTTHUMP00000239741;beta-1,3-N-acetylglucosaminyltransferase 4;beta-1,3-N-acetylglucosaminyltransferase bGn-T4 APPROVED protein-coding ENSG00000176383 HGNC:15683 12058 605864 REVIEWED 1313012 B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 17807662 17826113 + 17905919 17924385 + 17795110 17813576 + 1580863;6480464;6907045;8554872 10072769;10580128;10737800;11042166;11439191;12477932;12975309;15489334;16303743;16344560;17207965;17827388;20424473;21048031;23300138;24118321;8125298 10331 M0QX58;M0R199;Q9Y2A9 AB015630;AB049585;ABBA01051232;AC008761;AF293973;AJ130847;AJ278961;AK075434;AK075466;AK225421;AK225478;AK314323;AMYH02035714;AW848963;AY358955;BC066876;BC067423;CH471106;DA385410;DB104034;NG_028981;NM_014256 AAH66876;AAH67423;AAK00849;AAQ89314;ADQ32033;BAA76497;BAB21531;BAG36971;BAG52147;CAC45044;CAC82374;EAW84631;NP_055071;Q9Y2A9 Hs.657825;Hs.69009 1338424;1731505;1758999;1778228;2114608;2131958;5019711;5093158;5128169 A009H37;A009I31;D19S386;D19S915;G32554;G32565;SHGC-151107;SHGC-152107;WI-17661 B3GAL-T8;B3GN-T3;B3GNT-3;BGnT-3;HP10328;TMEM3;beta-1,3-GalTase 8;beta-1,3-Gn-T3;beta-3-Gx-T8;beta3Gal-T8;beta3GalT8;beta3Gn-T3;core1-beta3GlcNAcT UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8;beta-1,3-N-acetylglucosaminyltransferase 3;beta-1,3-N-acetylglucosaminyltransferase bGnT-3;beta-1,3-galactosyltransferase 8;core 1 extending beta-1,3-N-acetylglucosaminyltransferase;putative type II membrane protein;transmembrane protein 3 APPROVED protein-coding ENSG00000179913 HGNC:13528 10431 605863 REVIEWED 1603899 B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 17 17 17 q25.3 77497246 77604381 - 80900009 81009686 - 82942131 83051810 - 6480464;8554872 12477932;14702039;15560372;16169070;21890473;21963094;24250222;8619474;9110174 146712 I3L1A1;I3L232;I3L4B6;Q67FW5 ABBA01019711;ABBA01019712;ABBA01019713;AC127518;AC130371;AK054757;AK126018;AMYH02034176;AY304503;AY634364;BC019623;BC035891;BC041588;BC065543;BC110528;BC110529;CH471099;NM_001009905;U79265;XM_006722272;XM_006722273;XM_006722274;XM_006725289;XM_006725290;XR_243519;XR_430780 AAH19623;AAI10529;AAI10530;AAQ74775;AAT47555;EAW89825;EAW89827;EAW89830;NP_001009905;Q67FW5;XP_006722335;XP_006722336;XP_006722337;XP_006725352;XP_006725353 Hs.607824 1649726;1674254;1678599;1710706;1734430;1762063;2152394;2174188 D17S1402E;RH11658;RH15906;RH92242;SHGC-145974;SHGC-32338;SHGC-57794;SHGC-83674 B3GNT8;BGnT-8;MGC126253;MGC126256;beta-1,3-Gn-T8;beta3Gn-T8;beta3GnTL1 BGnT-like protein 1;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1;beta-1,3-N-acetylglucosaminyltransferase 8;beta1,3-N-acetylglucosaminyltransferase-like protein 1;beta3Gn-T-like protein 1 protein-coding ENSG00000175711 HGNC:21727 14071;18527 615337 VALIDATED 1313364 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ENCODES a protein that exhibits protein N-acetylglucosaminyltransferase activity; INVOLVED IN poly-N-acetyllactosamine biosynthetic process; FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; choline (ortholog); dibutyl phthalate (ortholog) 19 19 19 q13.2 38731099 38734479 - 41931264 41934635 - 41425359 41428730 - 1580863;6480464 15486459;15620693;18826941;20963502;21468598;22901175 374907 Q7Z7M8 AB175895;ABBA01040808;AC011462;AJ419172;AMYH02036134;AY277592;NM_198540 AAI56489;AAI72521;AAP34405;BAD86525;CAD11601;NP_940942;Q7Z7M8 Hs.441681 B3GALT7;BGALT15;BGnT-8;beta-1,3-Gn-T8;beta3Gn-T8 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 7;beta galactosyltransferase BGALT15;beta-1,3-N-acetylglucosaminyltransferase 8;beta1,3-N-acetylglucosaminyltransferase 8 protein-coding ENSG00000177191 HGNC:24139 12510 615357 VALIDATED 1320774 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. [provided by RefSeq, Jul 2008] 2 2 2 p15 62267974 62296577 + 62423262 62451866 + 62196127 62224731 + 1580863;6480464;6907045 10580128;11042166;12464682;12477932;12855703;14555842;14686931;14702039;14759258;15489334;15560372;16335952;17207965;18826941;20062062;21890473;21906983;21988832;22446963;24390342;9892646 10678 Q9NY97 AB049584;ABBA01075382;AC018462;AC093401;AF092051;AF288208;AF288209;AJ006077;AK002009;AMYH02003940;BC030579;BC047933;CH471053;NM_006577 AAD09764;AAF97253;AAF97254;AAH30579;AAH47933;AAX93271;ADQ31689;BAA92031;BAB21530;CAB91546;EAW99977;EAW99978;EAW99979;EAW99980;NP_006568;Q9NY97 Hs.173203 1654531;1685738;1767721;2180250;2218282;5092728 A005U48;B3GNT1_4414;G32292;RH45152;RH48653;WI-17834 B3GN-T1;B3GN-T2;B3GNT;B3GNT-2;B3GNT1;BETA3GNT;BGNT2;BGnT-2 OTTHUMP00000159816;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1;beta-1,3-Gn-T1;beta-1,3-Gn-T2;beta-1,3-N-acetylglucosaminyltransferase bGnT-1;beta-1,3-N-acetylglucosaminyltransferase bGnT-2;beta3Gn-T1;beta3Gn-T2 APPROVED protein-coding ENSG00000170340 HGNC:15629 09279 605581 REVIEWED 1603192 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ENCODES a protein that exhibits galactosyltransferase activity (inferred); INVOLVED IN protein glycosylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; pirinixic acid 16 16 16 q22.1 51690248 51693145 - 67182005 67184902 - 67148102 67150999 - 6480464;8554872 12477932;12975309;17110338;19060904;19913121;20628086 84752 Q6UX72;Q7Z4F9 ABBA01025431;AC074143;AF171091;AMYH02032225;AY358485;BC012191;BC022849;BU617330;CF994177;CH471092;NM_033309 AAQ13602;AAQ88849;EAW83079;NP_171608;Q6UX72 Hs.744158 1672105;2162615 D16S2584E;RH44529 BGnT-9;MGC4655;beta-1,3-Gn-T9;beta3Gn-T9 beta-1,3-N-acetylglucosaminyltransferase 9;beta-1,3-galactosyltransferase-related protein protein-coding ENSG00000237172 HGNC:28714 14651 VALIDATED 1354479 B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2 B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008] 17 17 17 q21.32 43663814 43701663 + 47209822 47247351 + 49132460 49169989 + 1580863;6480464;7240710 11886838;12477932;12678917;14688233;15489334;16024623;17965433;18485915;20379614;23535732;2425965;8782649 124872 Q8NHY0 ABBA01041190;AC069454;AF510036;AJ517770;AJ517771;AK302876;AMYH02033560;AMYH02033561;AMYH02033562;BC113675;BC113677;CH471109;NM_001159387;NM_001159388;NM_153446;S83275 AAI13676;AAI13678;AAM34756;AAN86706;ADR83075;ADR83221;BAG64056;CAD57148;CAD57149;EAW94690;EAW94691;NP_001152859;NP_001152860;NP_703147;Q8NHY0 Hs.374679 1700146;1826366 ECD14296;RH103686 B4GALT;GALGT2;MGC142235;MGC142237 OTTHUMP00000220015;OTTHUMP00000220016;OTTHUMP00000220017;UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase;UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase;beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT;beta-1,4 N-acetylgalactosaminyltransferase 2;beta-4-N-acetylgalactosaminyltransferase;sd(a) beta-1,4-GalNAc transferase;sda beta-1,4-GalNAc transferase APPROVED protein-coding ENSG00000167080 HGNC:24136 13558 111730 VALIDATED 1321569 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 ENCODES a protein that exhibits galactosyltransferase activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); cellular protein metabolic process (inferred); glycosaminoglycan metabolic process (inferred); PARTICIPATES IN keratan sulfate biosynthetic pathway; FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH copper atom; copper(0); valproic acid 2 2 2 q37.1 226036697 226042236 + 232260335 232265875 + 231395624 231401164 + 1580863;6480464;6907045 12061784;14706853;15815621;17690104;23583979 93010 Q8NFL0 ABBA01002057;ABBA01002058;AC017104;AF502430;AK000770;AK126207;AMYH02005966;AMYH02005967;CH471063;NM_145236;XM_005246953 AAI40378;AAI48681;AAM61770;AAY24246;BAG54296;EAW70958;EAW70959;NP_660279;Q8NFL0;XP_005247010 Hs.299329 2218284;5126374 B3GNT7_4416;G10658 BGnT-7;beta-1,3-Gn-T7;beta3Gn-T7;beta3GnT7 OTTHUMP00000204559;beta 1,3-N-acetylglucosaminyltransferase 7;beta-1,3-N-acetylglucosaminyltransferase 7 protein-coding ENSG00000156966 HGNC:18811 12512 615313 VALIDATED 731293 B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 12 12 12 q13.3 57675366 57682800 - 58019678 58027022 - 57623409 57633239 - 1580863;704404;6480464;6907045;7240710;8699517;8554872 10477274;10978536;11018043;12477932;15635080;1601877;16344560;17119850;19318031;19457569;21135695;21906983;23721779;23746551;24103911;8120069;8690719;8702839;8824296 2583 B4DSP5;F8VR44;F8VSE0;F8VU35;F8VW33;F8W1A7;H0YHT1;H0YI57;Q00973;Q59FK0 AB209460;ABBA01026694;ABBA01026695;AC025165;AK127448;AK289690;AK293432;AK299845;AK302503;AMYH02026588;BC029828;CH471054;DA483728;HQ860786;HQ860787;HQ860788;HQ860789;L76079;M83651;NG_033849;NM_001276468;NM_001276469;NM_001478;XM_005268773;XM_006719331 AAA35516;AAH29828;ADZ15711;AEJ36341;AEJ36342;AEJ36343;AEJ36344;BAD92697;BAF82379;BAG56937;BAG61707;BAH13729;EAW97042;EAW97043;NP_001263397;NP_001263398;NP_001469;Q00973;XP_005268830;XP_006719394 Hs.159481 1338201;1339227;2122078;2146340;2151807;2181131 D12S1676;D12S1969;D12S2059;D12S59;RH1607;WI-15888 GALGT;GalNAc-T;SPG26;beta1,4GalNAc-T;beta1-4GalNAc-T (N-acetylneuraminyl)-galactosylglucosylceramide;GALNACT;GD2 synthase, GM2 synthase;GM2/GD2 synthase;OTTHUMP00000243172;OTTHUMP00000243173;UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1;UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T);beta-1,4 N-acetylgalactosaminyltransferase 1;spastic paraplegia 26 APPROVED protein-coding ENSG00000135454 HGNC:4117 03525 601873;609195 REVIEWED 1602277 B4GALNT4 beta-1,4-N-acetyl-galactosaminyl transferase 4 ENCODES a protein that exhibits acetylgalactosaminyltransferase activity; INVOLVED IN metabolic process; FOUND IN Golgi cisterna membrane (inferred); integral component of membrane (inferred); INTERACTS WITH cadmium atom; hydroquinone O-beta-D-glucopyranoside; kojic acid 11 11 11 p15.5 431440 441661 + 369795 382117 + 369795 382117 + 6480464 12477932;14702039;15044014;15146197;18048353;18854154;22722937;22722940 338707 H0YCU7;H0YDW6;Q76KP1 AB089939;ABBA01015176;ABBA01015177;ABBA01015178;AC138230;AK057774;AMYH02024133;AMYH02024134;AMYH02024135;AMYH02024136;BC035906;BC131528;BF058197;CH471158;CN348077;NM_178537;XM_005252891;XM_005252892 AAI31529;BAB71566;BAD06471;EAX02321;NP_848632;Q76KP1;XP_005252948;XP_005252949 Hs.148074 FLJ25045 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1;NGalNAc-T1;OTTHUMP00000147617;beta-1,4-N-acetylgalactosaminyltransferase IV;beta1,4-N-acetylgalactosaminyltransferases IV;beta4GalNAc-T4;beta4GalNAcT4;betaGT4 protein-coding ENSG00000182272 HGNC:26315 08046 VALIDATED 8656180 B4GALT1-AS1 B4GALT1 antisense RNA 1 9 9 33167840 33179980 + 33166948 33179983 + 18487259;23263486 101929639 AB371488;ABBA01065064;AL161445;AMYH02019415;AMYH02019416;HG501965;HG501966;HY028011;HY043002;HY143413;NR_108108;NR_108109;NR_108110 Hs.545818 ncrna ENSG00000233554 HGNC:49910 VALIDATED 6481160 B4GALT4-AS1 B4GALT4 antisense RNA 1 q13.33 16344560 100874201 AC083800;AC092981;DB092185;NR_046574 Hs.721307 APPROVED ncrna HGNC:40090 VALIDATED 1349315 B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008] 9 9 9 p13 33041647 33098362 - 33110636 33167356 - 33110641 33167358 - 1599432;1580863;6480464;6907045;7240710;8699517;8554872 11901181 10580128;10900002;11295846;11506180;11947697;12477932;1384956;15164053;15611127;15668241;16157350;16502470;16675551;16786197;17021253;1714903;18029348;18215327;18314154;18330979;18929424;1903938;19056867;19106107;19204726;19261593;19322201;19946888;20202494;20301507;20360068;20378551;20379614;20467438;20490888;20619088;20655926;20851383;20886274;21139048;2120039;2124683;21750942;2187500;21963094;22740701;22847114;22927297;22939629;22982306;23263486;23382691;23583406;23744354;2541446;2542563;2649653;2829950;3091013;3094506;3098628;3144273;33805;3917437;6121819;7540104;7579794;7744867;8540625;9597550 2683 B4DMM8;P15291;Q86XA6;W6MEN3 A23697;ABBA01065064;ABBA01065065;ABBA01065066;ABBA01065067;ABBA01065068;ABBA01065069;AK296928;AK297541;AK312797;AK316294;AL161445;AMYH02019415;AY864848;BC034244;BC035442;BC045773;BU624063;BX648438;CH471071;D29805;GM603708;HG765099;HG765101;M13701;M22921;M70432;NG_008919;NM_001497;U10472;U10473;U10474;X13223;X14085;X55415;XM_005251440 AAA35935;AAA35936;AAA35937;AAA68218;AAA68219;AAA68220;AAB00776;AAH45773;BAA06188;BAG35657;BAG59480;BAG59940;BAH14665;CAA01685;CAA31611;CAA32247;CAA39073;CAA39074;CAT03462;CDJ98631;CDJ98633;EAW58520;EAW58521;NP_001488;P15291;XP_005251497 Hs.272011 1335482;1342135;1662093;1663499;1717681;1721659;1759683;1774437;1792430;1792774;2121045;2132862;2218286;5022004 A006S33;B4GALT1_4417;D4Ulb4;D9S1705;D9S1788;D9S1845;G59840;PMC150909P1;PMC16394P1;RH122271;RH16521;RH17851;SHGC-150820;SHGC-31076 B4GAL-T1;CDG2D;DKFZp686N19253;GGTB2;GT1;GTB;MGC50983;beta4Gal-T1 OTTHUMP00000021196;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1;beta-1,4-GalTase 1;beta-1,4-galactosyltransferase 1;glycoprotein-4-beta-galactosyltransferase 2;lactose synthase APPROVED protein-coding ENSG00000086062 HGNC:924 00659 137060;607091 REVIEWED 1313336 B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 1 1 1 p34-p33 42728400 42740377 + 44444874 44456843 + 43979202 43991171 + 1580863;6480464;6907045;8554872 10580128;11588157;12107413;12477932;14702039;15489334;15504978;15939404;16710414;17470362;18211920;18565761;19524017;2187500;21988832;2541446;2542563;2649653;2829950;9405390;9597550 8704 O60909 AB024434;ABBA01050934;ABBA01050935;AF038660;AI702508;AK074533;AK095873;AK293418;AL137647;AL139220;AL357079;AL535811;AMYH02000911;AMYH02000912;BC002431;BC096821;BQ222671;CD675528;CH471059;DC386748;NM_001005417;NM_003780;NM_030587;XM_005271304;XM_006711017;Y12510 AAC39733;AAH96821;BAA75819;BAG51967;BAG53152;BAG56925;CAA73112;CAB70857;EAX07062;EAX07063;EAX07064;EAX07065;NP_001005417;NP_003771;NP_085076;O60909;XP_005271361;XP_006711080 Hs.632403;Hs.736507 1662251;1730267;1761635;2124550;2218288;7184711;7187617 B4GALT2_4418;D1S280E;HSCZOA042;SHGC-145624;SHGC-74711 B4Gal-T2;B4Gal-T3;beta4Gal-T2 OTTHUMP00000010008;OTTHUMP00000010009;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2;UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 2;UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 2;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 2;beta-1,4-GalTase 2;beta-1,4-galactosyltransferase 2;beta-4-GalT2;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 2 APPROVED protein-coding ENSG00000117411 HGNC:925 04928 604013 REVIEWED 1603523 B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3 B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008] 12 12 12 p13.33 2176639 2277425 + 569543 671503 + 460377 561892 + 6480464;8554872 12966086;14702039;15146197;16728562;17579116;18048353;20360844;20379614;22722937;22722940 283358 E9PHD9;Q6L9W6;Q8N9V0 AB089940;ABBA01048847;ABBA01048848;ABBA01048849;ABBA01048850;ABBA01048851;ABBA01048852;AC005844;AC006205;AK093503;AK097681;AK131277;AMYH02025851;AMYH02025852;AMYH02025853;AMYH02025854;AMYH02025855;CH471116;CN400443;KF455576;NM_173593 AAI56654;BAC04187;BAC05141;BAD02449;BAD18454;EAW88962;EAW88963;EAW88964;EAW88965;NP_775864;Q6L9W6 Hs.504416 1338499;1689085;1704820;1733624;1759145;1858038;2183630;5015063 D12S352;D12S994;G41229;RH47453;RH93158;SHGC-151131;SHGC-152167;SHGC-79880 FLJ16224;FLJ40362 B4GalNAcT3;Beta4GalNAc-T3;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2;NGalNAc-T2;OTTHUMP00000159611;beta-1,4-N-acetylgalactosaminyltransferase 3;beta-1,4-N-acetylgalactosaminyltransferase III;beta4GalNAcT3 APPROVED protein-coding HGNC:24137 12514 612220 VALIDATED 1354334 B4GALT3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 1 q21-q23 134208254 134214467 - 161141100 161147758 - 161171310 161177968 - 1580863;6480464;6907045;8554872 10580128;11588157;12477932;14702039;15489334;16169070;16710414;17613536;18029348;18565761;19199708;2187500;22082156;22268729;23444218;24403309;2541446;2542563;2649653;2829950;9405390;9597550 8703 A8K5Z0;O60512 AB024435;ABBA01016596;AF038661;AK023311;AK056851;AK092493;AK291455;AL590714;AMYH02002032;BC000276;BC006099;BC009985;CH471121;DC339671;NG_011480;NM_001199873;NM_001199874;NM_003779;XM_005245566;XM_006711600;XM_006711601;Y12509 AAC39734;AAH00276;AAH06099;AAH09985;ABM83420;ABM86632;BAA75820;BAB14520;BAF84144;BAG51816;BAG52558;CAA73111;EAW52628;EAW52629;EAW52630;EAW52631;EAW52632;EAW52633;EAW52634;NP_001186802;NP_001186803;NP_003770;O60512;XP_005245623;XP_006711663;XP_006711664 Hs.321231;Hs.741821 1672738;1725645;1848835;2128992;2146481;2150332 A001T06;G62099;RH11845;RH64523;RH64578;RH71218 beta4Gal-T3 OTTHUMP00000032247;OTTHUMP00000032248;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3;b4Gal-T3;beta-1,4-GalTase 3;beta-1,4-galactosyltransferase 3;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 3 APPROVED protein-coding ENSG00000158850 HGNC:926 04929 604014 REVIEWED 1354325 B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009] 5 5 5 q35.2-q35.3 171465093 171475318 - 177027119 177037348 + 177600118 177610347 + 1599433;1580863;6480464;6907045;7240710;8554872;8699517 10473568 10438455;10506123;10580128;10894925;12477932;12975309;14702039;15489334;15522873;16583246;18158310;20691685;20809901;20843813;24052259;3631078 11285 B3KMT1;D6RA33;D6RDJ8;D6RJI5;H0Y9D6;Q9UBV7 AB028600;ABBA01033449;AC139795;AF142675;AJ005382;AK022566;AK023506;AK095882;AK123092;AMYH02012842;AX879363;AY358578;BC007317;BC062983;BC072403;CH471195;CS488894;NG_015977;NM_007255;XM_005265805;XM_006714815;XM_006714816 AAF22225;AAH07317;AAH62983;AAH72403;AAQ88941;ABM83936;ABM87255;BAA83414;BAG51093;BAG51201;BAG53157;CAB56424;CAE90482;CAM55968;EAW84964;EAW84965;NP_009186;Q9UBV7;XP_005265862;XP_006714878;XP_006714879 Hs.455109 2107877;2148552;5016405 B4GALT7_9257;RH78007;SHGC-56917 B4GAL-T7;EDSP1;XGALT-1;XGALT1;XGPT1;beta4Gal-T7;beta4GalT-VII OTTHUMP00000161440;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7;beta-1,4-GalTase 7;beta-1,4-galactosyltransferase 7;beta-1,4-galactosyltransferase VII;galactosyltransferase I;proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I APPROVED protein-coding ENSG00000027847 HGNC:930 05060 130070;604327 REVIEWED 1317330 B4GALT4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q13.3 117339081 117368232 - 118930589 118959754 - 119211742 119240905 - 6480464;6907045 10580128;11337467;11588157;12477932;12975309;14702039;15489334;18565761;18763123;2187500;2541446;2542563;2649653;2829950;9597550;9792633 8702 B2RAZ5;B3KM35;C9J3R8;C9J4S5;C9J5S0;C9J644;C9JA31;C9JE00;C9JY35;C9JY38;E7ETS9;O60513 AB024436;ABBA01061587;AC083800;AF020920;AF022367;AF038662;AK001006;AK123182;AK301688;AK314425;AL833580;AMYH02007497;AU099090;AY359008;BC004523;BC062618;BX647468;CH471052;CR749555;FJ525878;NM_003778;NM_212543;XM_005247855;XM_005247857;XM_006713798;XM_006713799;XM_006713800;XM_006713801 AAC39735;AAC72493;AAG50147;AAH04523;AAH62618;AAQ89367;ACN81316;BAA75821;BAG37042;BAG50847;BAG63160;CAH18352;EAW79575;EAW79576;NP_003769;NP_997708;O60513;XP_005247912;XP_005247914;XP_006713861;XP_006713862;XP_006713863;XP_006713864 Hs.13225 1712336;2107875;2163750;2165826 B4GALT4_8849;G54077;RH79045;SHGC-77230 B4Gal-T4;beta4Gal-T4 OTTHUMP00000215049;OTTHUMP00000215050;OTTHUMP00000215054;OTTHUMP00000215078;OTTHUMP00000215079;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4;UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 4;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4;beta-1,4-GalTase 4;beta-1,4-galactosyltransferase 4;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 4 APPROVED protein-coding ENSG00000121578 HGNC:927 04930 604015 REVIEWED 1603296 B9D2 B9 protein domain 2 This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009] 19 19 19 q13.2 38660483 38669951 - 41860322 41870078 - 41354417 41364540 - 6480464;8699517;7240710;8554872 12477932;16341674;16344560;17127412;17207965;18287022;18936436;19208769;19692168;20301743;21054877;21763481;24250222;8889548 80776 M0QY88;Q9BPU9 ABBA01040805;AC011462;AMYH02036133;BC004157;BC004444;BM833644;BU609059;CH471126;DA196504;NG_013091;NM_030578;XM_006723405 AAH04157;AAH04444;ADQ32833;EAW57034;NP_085055;Q9BPU9;XP_006723468 Hs.567596 ICIS-1;MGC4093;MKS10;MKSR2 B9 domain-containing protein 2;MKS1-related protein 2;involved in cIlia stability-1 APPROVED protein-coding ENSG00000123810 HGNC:28636 14613 611951;614175 REVIEWED 1320747 B4GALT5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008] 20 20 20 q13.1-q13.2 44954098 45035021 - 48249482 48330421 - 49632945 49713884 - 1580863;6480464;6907045;8554872 10580128;11780052;11827452;12385586;12477932;14702039;15263012;15489334;16461357;17656364;17690104;19322201;20417617;21906983;22687727;23362303;23744354;24250222;9435216;9535717;9597550 9334 O43286;Q8WZ36 AB004550;AB067772;AB871482;ABBA01052750;AF038663;AF289556;AK054803;AK056333;AL035683;AL162615;AMYH02037216;AMYH02037217;BC074821;BC074873;BC104987;BC112265;BG939833;CH471077;DR000345;NM_004776 AAC39736;AAH74821;AAH74873;AAI04988;AAI12266;AAL55740;ADR82962;BAA25006;BAC07182;BAO04294;EAW75653;EAW75654;NP_004767;O43286 Hs.370487 1655665;1685113;1693378;1771024;1856293;2122545;2160079 AL022254;AL034501;RH34;RH47120;RH66750;Z94405;Z94493 B4Gal-T5;BETA4-GALT-IV;MGC138470;beta4Gal-T5;beta4GalT-V;gt-V OTTHUMP00000031806;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5;UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5;beta-1,4-GalT II;beta-1,4-GalT IV;beta-1,4-GalTase 5;beta-1,4-galactosyltransferase 5;beta-1.4-galactosyltransferase V;beta4-GalT IV APPROVED protein-coding ENSG00000158470 HGNC:928 06807 604016 VALIDATED 737376 B4GALT6 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008] 18 18 18 q11 26009322 26071820 - 29202209 29306560 - 31622246 31726593 - 1580863;1300048;6480464;6907045 10320813;10580128;12180132;12477932;12665801;15489334;19451621;2187500;2541446;2542563;2649653;2829950;9597550 9331 G3XA83;J3QQY9;Q9UBX8 AB024742;AB209194;ABBA01022509;ABBA01022510;AC017100;AF038664;AF069054;AF097159;AK314860;AMYH02034511;BC069620;BC069642;BC074835;BC074884;CH471088;NM_004775;XM_005258387;XM_006722578;XM_006722579 AAC21570;AAC39737;AAD41695;AAH69620;AAH69642;AAH74835;AAH74884;BAA76273;BAD92431;BAG37376;EAX01267;EAX01268;EAX01269;NP_004766;Q9UBX8;XP_005258444;XP_006722641;XP_006722642 Hs.591063 1646529;1675656;1685377 RH12056;RH79765;WI-13684 B4Gal-T6;beta4Gal-T6 OTTHUMP00000162821;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6;UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6;beta-1,4-GalTase 6;beta-1,4-galactosyltransferase 6;beta4GalT-VI APPROVED protein-coding ENSG00000118276 HGNC:929 06808 604017 REVIEWED 1602004 B9D1 B9 protein domain 1 This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011] 17 17 17 p11.2 16659306 16678871 - 19240563 19281495 - 19337250 19378182 - 6480464;8699517;7240710;8554872 12477932;15231747;18337471;19208769;20301743;21493627;21890473;21963094;22990118;23000965;24250222 27077 A8MTX4;A8MYG7;B4DN64;H7C3B7;I3L126;I3L2R1;I3L435;J3KSN2;J3QKN6;J3QKV6;Q9UPM9 AB030506;ABBA01054609;ABBA01054610;ABBA01054611;AC124066;AI300844;AK293815;AK297782;AK309320;AMYH02033165;BC002944;BI833202;CH471212;CS072373;NG_031885;NM_001243473;NM_001243475;NM_015681;XM_005256605;XM_005256607;XM_005256608;XM_005256609;XM_005256610 AAH02944;BAA82655;BAG57221;BAG60126;CAI93511;EAW50878;EAW50879;EAW50880;EAW50881;EAW50882;NP_001230402;NP_001230404;NP_056496;Q9UPM9;XP_005256662;XP_005256664;XP_005256665;XP_005256666;XP_005256667 Hs.462445 2138669 STS-W44801 B9;EPPB9;MKS9;MKSR1 B9 domain-containing protein 1;MKS1-related protein 1;OTTHUMP00000065900;OTTHUMP00000065901;OTTHUMP00000065902;OTTHUMP00000065903;OTTHUMP00000065904;OTTHUMP00000065905;endothelial precursor protein B9 APPROVED protein-coding ENSG00000108641 HGNC:24123 16866 614144;614209 REVIEWED 8655302 BAALC-AS1 BAALC antisense RNA 1 8 8 8 q22.3 100364572 100371202 - 104168362 104310998 - 103156990 103172140 - 16344560;17213182 100499183 ABBA01037631;AC025370;AK125733;AK311189;AMYH02018541;DA226722;DA333188;DT217610;HG501547;HG501549;HG501556;NR_109954 Hs.654812;Hs.733366 ncrna ENSG00000247081 HGNC:50461 VALIDATED 736795 BAALC brain and acute leukemia, cytoplasmic This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008] 8 8 8 q22.3 100339760 100429361 + 104152921 104242533 + 103140693 103230305 + 632264;6480464 11707601 12477932;14702039;15489334;15604894;15749074;16189514;17646667;18029348;18378853;18671757;18752846;19555438;19943049;20065290;20306678;20495894;20535151;20841507;21835957;21967978;22197554;22488406;22493267;22529287;23275563;23287429;23647058;23672350;23760853;23865362 79870 Q8WXS3 ABBA01037630;ABBA01037631;AC025370;AF363578;AF371319;AF371323;AK022077;AK093819;AMYH02018541;AP003550;BC011517;BC014365;BC035038;BI548687;CH471060;NM_001024372;NM_024812 AAH11517;AAH35038;AAL50377;AAL50378;AAL50379;AAL50380;AAL50381;AAL50382;AAL50515;AAL50519;ABM84244;ABM87632;BAB13960;EAW91862;EAW91863;EAW91864;EAW91865;NP_001019543;NP_079088;Q8WXS3 Hs.533446 1688243;1699054;1715595;1727095;1740189;1764079;2140984;2165994;2171061 D8S1390E;D8S1692;D8S1977;G62950;RH103102;RH120941;RH98648;SHGC-147735;STS-AA018831 FLJ12015 OTTHUMP00000227493;OTTHUMP00000227494;OTTHUMP00000227495;brain and acute leukemia cytoplasmic protein APPROVED protein-coding ENSG00000164929 HGNC:14333 09422 606602 REVIEWED 4144528 BAATP1 bile acid CoA: amino acid N-acyltransferase pseudogene 1 9 9 9 q31.1 74609971 74615238 - 104096374 104101629 - 101334092 101339347 - 17116739;18538142;20210993 347275 ABBA01042875;AC216089;AL359893;AMYH02021352;NG_023464 1339902;1759121 D9S1690;SHGC-152828 FLJ20300 ACNATP pseudo HGNC:34504 INFERRED 1350115 BACE2 beta-site APP-cleaving enzyme 2 This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 21 21 21 q22.3 27737910 27846710 + 42539728 42654461 + 41167801 41282534 + 1580863;6480464;6907045 10591213;10605825;10677483;10683441;10749877;10830953;10838186;10931940;10936190;10965118;11083922;11316808;11423558;11741910;12054559;12093293;12135764;12423367;12477932;12611455;12618121;12665519;12707937;12801932;12895444;12975309;14684825;14702039;15178331;15473697;15489334;15857888;16023140;16305800;16757811;16757812;16816112;16965550;17113083;17307738;17511655;18163181;18781797;18976975;19124009;19240061;19840121;19913121;19968762;20494980;20628086;20943756;21907142;21963094;22986058;23324234;23754390;23903356;8764598 25825 Q9Y5Z0 ABBA01044663;ABBA01044664;ABBA01044665;ABBA01044666;AF050171;AF117892;AF178532;AF188276;AF188277;AF200192;AF200342;AF204944;AF212252;AK023647;AK075539;AK292056;AL163284;AL163285;AL773572;AL773575;AL773578;AMYH02037855;AMYH02037856;AY358927;AY429520;AY429521;AY769996;BC014453;BC020582;BQ006998;CH471079;NM_012105;NM_138991;NM_138992 AAD45240;AAD45963;AAF13714;AAF17078;AAF26368;AAF29494;AAF35835;AAF35836;AAG41783;AAH14453;AAQ89286;AAX14808;ABM86342;ABW03781;BAC11682;BAF84745;CAB90458;CAB90554;EAX09611;EAX09612;EAX09613;NP_036237;NP_620476;NP_620477;Q9Y5Z0 Hs.43047;Hs.529408 1648860;1648862;1667036;1674840;1678345;1684762;1685816;1690171;1730704;1730869;1730902;1731168;1752761;1775672;1790639;1794002;1795410;1854823;1854825;2122524;2123100;2127787;2132888;2137294;2182568;2182965;2217758;2220504;5022223;5125160 A005R16;BACE2_712;D21S355;D21S398;D21S418E;D21S53;G20436;G35323;PLAC4_3729;PMC310729P6;RH45177;RH69858;RH76632;RH79591;RH98903;SHGC-106623;SHGC-51917;SHGC-52036;SHGC-52055;SHGC-6869;SHGC-87646;SHGC-87652;SHGC-87653;SHGC-87655;STS-AA035768;STS-T66917;STS_CEB270;UniSTS:483705;WI-11358;WI-17388 ALP56;ASP1;ASP21;BAE2;CDA13;CEAP1;DRAP;asp 1 56 kDa aspartic-like protease;AEPLC;Down syndrome region aspartic protease;OTTHUMP00000109198;OTTHUMP00000109199;OTTHUMP00000109200;aspartic-like protease 56 kDa;aspartyl protease 1;beta secretase 2;beta-secretase 2;beta-site APP cleaving enzyme 2;beta-site amyloid beta A4 precursor protein-cleaving enzyme 2;beta-site amyloid precursor protein cleaving enzyme 2;down region aspartic protease;memapsin-1;membrane-associated aspartic protease 1;theta-secretase;transmembrane aspartic proteinase Asp1 APPROVED protein-coding ENSG00000182240 HGNC:934 05744 605668 REVIEWED 735913 BAAT bile acid CoA:amino acid N-acyltransferase The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q22.3 74636308 74660897 - 104122699 104147287 - 101360417 101385005 - 734629;1580863;69770;6480464;6907045;7240710;8554872;8699517 12704386;7575455 10884298;12239217;12477932;12763038;12810727;15164053;15489334;16712791;17256745;17495420;18029348;18793185;20178365;2037576;20677014;22783059;8034703;8954802 570 Q14032 ABBA01042874;AC216089;AK315347;AL353621;AL359893;AMYH02021354;BC009567;BC039200;BC107424;BG565737;CB154234;CH471105;CR541918;H62757;L34081;NG_009774;NM_001127610;NM_001701 AAC37550;AAH09567;AAI07425;ABM82836;ABM86021;CAG46716;EAW58943;EAW58944;EAW58945;EAW58946;NP_001121082;NP_001692;Q14032 Hs.284712 1672412;1769318;2142406;5106212 D9S1952;RH16182;RH45350;STS-L34081 BAT;FLJ20300;MGC104432 BACAT;OTTHUMP00000021802;bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase);bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase);bile acid-CoA:amino acid N-acyltransferase;bile acid-coenzyme a: amino acid n-acyltransferase;long-chain fatty-acyl-CoA hydrolase APPROVED protein-coding ENSG00000136881 HGNC:932 08376 602938;607748 REVIEWED 1606566 BACE1 beta-site APP-cleaving enzyme 1 Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] 11 11 11 q23.2-q23.3 114314074 114344631 - 117156402 117186972 - 117285686 117316256 - 6480464;6907045 10531052;10574461;10591213;10591214;10656250;10677483;10749877;10801872;10887202;10956649;11021803;11032903;11152683;11234778;11266439;11278841;11466313;11516562;11684351;11714100;11741910;11744168;11847218;11860271;11922623;11953458;12054507;12054559;12093293;12112088;12135764;12206667;12223024;12270690;12354787;12438920;12445809;12471021;12477932;12514700;12535780;12586836;12586838;12618121;12649271;12665519;12707937;12801932;12824768;12857759;12901838;12928915;14507929;14567678;14681914;14699153;14701757;14748006;14748707;14978286;14991462;15034149;15059975;15059977;15080893;15096037;15117318;15197182;15211591;15213451;15234966;15247262;15286784;15451669;15452128;15466887;15485862;15489334;15491607;15584902;15592644;15606899;15615712;15628850;15671026;15749709;15784960;15824102;15857888;15880353;15886016;15931081;16027115;16033761;16181410;16243299;16246054;16249081;16279945;16303743;16342950;16354928;16407538;16449801;16605258;16611980;16679558;16716081;16757811;16769154;16816111;16897184;16908986;16965550;16979658;17113083;17174011;17236572;17293612;17307738;17331621;17409228;17425515;17511654;17576410;17596706;17601350;17699523;17854420;17897958;17961921;18039469;18163181;18177262;18182389;18182766;18255190;18263584;18307033;18353773;18374657;18378702;18393796;18434550;18581272;18587408;18632981;18650447;18660751;18695061;18790604;18798280;18805488;18977241;19011241;19056495;19057901;19074428;19106624;19153172;19196715;19251705;19302194;19344981;19372755;19405102;19429494;19462468;19508864;19682432;19815556;19827607;19889475;19968762;20041192;20066010;20080541;20089133;20127045;20164582;20212127;20236612;20354142;20455082;20468060;20484053;20607864;20685197;20726888;20806954;20849576;20853423;20854419;20930275;20930286;20946940;21209097;21245145;21321391;21354237;21440067;21500352;21565331;21576249;21585286;21642424;21695060;21707077;21712774;21726644;21779381;21795680;21825135;21942621;22045484;22052506;22122287;22122349;22150401;22178568;22194329;22223639;22267734;22275252;22299711;22303960;22306812;22351782;22450048;22491325;22553349;22709416;22721728;22726800;22728099;22775589;22796214;22846573;22879628;22952813;22975420;22988240;23021373;23023105;23024787;23036023;23036978;23048024;23109336;23127467;23142975;23180460;23202730;23312803;23324234;23344193;23504710;23566348;23577068;23596049;23676825;23681056;23701002;23713656;23750206;23820808;23926111;23970038;24081378;24332014;24352696;24368770;24405708;24556009;24646365;24739782;24806670;25100603 23621 B7Z3K2;B7Z3Z4;E9PJG7;H0YDX0;P56817;Q5W9H2;U3KPS1 AB032975;AB050436;AB050437;AB050438;AB089958;AB177847;ABBA01039728;ABBA01039729;AF161367;AF190725;AF200193;AF200343;AF201468;AF204943;AF324837;AF338816;AF338817;AF527782;AK075049;AK296015;AK296535;AL833810;AMYH02025629;AP000892;AY162468;BC036084;BC065492;BM996673;BQ005204;CH471065;CS027018;DC343475;DQ007053;EF444940;KC877486;NG_029372;NM_001207048;NM_001207049;NM_012104;NM_138971;NM_138972;NM_138973 AAF04142;AAF13715;AAF17079;AAF18982;AAF26367;AAF28927;AAH36084;AAH65492;AAK38374;AAK38375;AAM54050;AAM92013;AAO23912;AAY16982;ABM82435;ABM85626;ACA05927;BAA86463;BAB40931;BAB40932;BAB40933;BAC81826;BAD66825;BAG52056;BAH12238;BAH12380;CAD38674;CAI61888;EAW67308;EAW67309;EAW67310;EAW67311;EAW67312;EAW67313;EAW67314;EAW67315;EAW67316;EAW67317;NP_001193977;NP_001193978;NP_036236;NP_620427;NP_620428;NP_620429;P56817 Hs.504003 1651212;1669421;1671854;1674127;1736166;1736174;1769026;1795412;2115802;2117593;2117595;2118460;2122852;2135576;2164459;2164461;5093878 A005A12;A005U47;A009Y15;BACE_290;D11S2254E;D11S2277E;D11S2294E;D11S2298E;G20259;G20524;G32977;IB1111;RH12629;RH46256;WI-14206;WI-15498;WI-18163 ASP2;BACE;FLJ90568;HSPC104;KIAA1149;asp 2 APP beta-secretase;OTTHUMP00000218630;OTTHUMP00000218631;OTTHUMP00000218632;OTTHUMP00000218633;OTTHUMP00000218635;OTTHUMP00000218636;OTTHUMP00000235006;OTTHUMP00000235007;aspartyl protease 2;beta-secretase 1;beta-secretase 1 precursor variant 1;beta-site APP cleaving enzyme 1;beta-site amyloid beta A4 precursor protein-cleaving enzyme;beta-site amyloid precursor protein cleaving enzyme 1;memapsin-2;membrane-associated aspartic protease 2;transmembrane aspartic proteinase Asp2 APPROVED protein-coding ENSG00000186318 HGNC:933 07255 604252 REVIEWED 1602893 BABAM1 BRISC and BRCA1 A complex member 1 INVOLVED IN double-strand break repair; positive regulation of DNA repair; protein K63-linked deubiquitination; ASSOCIATED WITH Melanoma (inferred); FOUND IN BRCA1-A complex; BRISC complex; cytoplasm; INTERACTS WITH tert-butyl hydroperoxide; cadmium dichloride (ortholog) 19 19 19 p13.11 17279989 17291905 + 17378200 17390162 + 17267376 17279353 + 6480464;8554872 11042152;11076863;11230166;12477932;15342556;15489336;16189514;16196087;16381901;17353931;19214193;19261746;19261748;19261749;19380743;19572197;19615732;20656689;20852631;20852633;21044950;21139048;21282113;21431873;21890473;21906983;21963094;21987572;22331459;22357538;22505724;22792303;22863883;22939629;22990118;23000965;23535730;23535733;23544013;24667604;8125298 29086 J3KQS6;M0QX07;M0QY17;M0QYV1;M0QZ44;M0R0I0;M0R193;M0R2A4;M0R2I2;M0R2K3;M0R3F4;M0R3H9;Q9NWV8 ABBA01051189;ABBA01051190;ABBA01051191;AC010463;AC104522;AF161491;AI948445;AJ572521;AK000578;AK025970;AK225047;AK301193;AK308590;AL136692;AMYH02035701;BC000788;BC006244;BC091491;BP246573;CH471106;CR533526;CX866662;NM_001033549;NM_001288756;NM_001288757;NM_014173 AAF29106;AAH00788;AAH06244;AAH91491;BAA91268;BAG62773;CAB66627;CAG38557;CAL38513;CAL38600;EAW84584;EAW84585;NP_001028721;NP_001275685;NP_001275686;NP_054892;Q9NWV8 Hs.190722 1665927;1773023;1847602;2175025 A002Q23;RH11746;SGC31836;WI-11438 C19orf62;FLJ20571;HSPC142;MERIT40;NBA1 BRCA1-A complex subunit MERIT40;BRISC and BRCA1-A complex member 1;mediator of RAP80 interactions and targeting subunit of 40 kDa;mediator of Rap80 interactions and targeting 40 kDa;new component of the BRCA1 A complex;new component of the BRCA1-A complex;new component of the BRCAA1 A complex APPROVED protein-coding ENSG00000105393 HGNC:25008 13702 612766 VALIDATED 6481039 BACH1-IT2 BACH1 intronic transcript 2 (non-protein coding) q21.3 100874322 AA912526;AP000240;NR_046564 Hs.326404 ncrna HGNC:40007 VALIDATED 2881130 BACE1-AS BACE1 antisense RNA 11 11 q23.3 117162062 117162859 + 117291346 117292143 + 10737800;18587408;20507594;21785702 100379571 ABBA01039729;AMYH02025629;AP000892;BF886632;CB960709;NR_037803 Hs.736305 BACE1-AS1;BACE1AS;FJ573250;NCRNA00177 APPROVED ncrna HGNC:37125 614263 VALIDATED 1603174 BAALC-AS2 BAALC antisense RNA 2 8 8 8 q22.3 100332034 100340409 - 104145191 104153570 - 103132963 103141342 - 12477932;21832049 157556 P0C853 ABBA01037630;AMYH02018541;AP003550;BC029562;BC071743;NR_027071 P0C853 Hs.459124 BAALCOS;C8orf56;MGC39526 APPROVED ncrna ENSG00000236939 HGNC:28595 VALIDATED 1349420 BACH1-IT3 BACH1 intronic transcript 3 (non-protein coding) q22.11 54147 AA843704;BX100223 Hs.124532 C21orf8;NCRNA00097 APPROVED ncrna HGNC:16455 1352744 BACE2-IT1 BACE2 intronic transcript 1 (non-protein coding) q22.2 282569 AI189527;AL773572;HG511839 Hs.472492 C21orf75;NCRNA00228;PRED43 APPROVED ncrna HGNC:16024 1315457 BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009] 21 21 21 q22.11 15854335 15917330 + 30671151 30734257 + 29298804 29411809 + 1580863;6480464;7240710;8554872 10669750;10830953;11069897;11301010;12477932;12511571;14504288;14660636;15068237;15068251;15125843;15175654;15242590;15464985;15465821;15489334;15613547;15734732;15809329;16341674;16391231;16530877;16724942;16771696;16780588;16964243;17065227;17525340;17664283;17682061;17881434;18029348;18550526;19011633;19064572;19369211;19591297;19618874;19822148;19874887;20127796;20159562;20345481;20360068;20978114;21139048;21555518;21812759;21988832;22032289;22158540;22289179;22307849;22589738;22698995;22875853;23455180;23455922;23602568;23661758;23737527;23738048;24035498;24351291;24366869;24395801;24613679;8887638;8889548;9479503;9544839 571 C9IYH8;C9IYR0;C9JMP6;F8VZL7;H7C4B6;M0QZP0;O14867;Q6ICU0 AA402241;AB002803;ABBA01057257;AF026199;AF026200;AF124731;AF317902;AF317903;AI336948;AK291021;AK313791;AL163249;AMYH02037693;AP000240;AP001705;BC063307;BM837454;BU933041;CF890820;CH471079;CR450303;DB524401;HG511706;KC877841;KC877852;KF457186;KF457191;KF511368;NG_029658;NM_001186;NM_206866;NR_027655;XM_005261012;XM_005261013;XM_005261014;XM_006724034;XR_430352;XR_430353;XR_430354 AAB84100;AAB84101;AAD14689;AAH63307;AAK08197;ABZ91995;BAA24932;BAA95505;BAF83710;BAG36528;CAB90435;CAG29299;EAX09913;EAX09914;NP_001177;NP_996749;O14867;XP_005261069;XP_005261070;XP_005261071;XP_006724097 Hs.154276 1733188;2167574;2187420 D21S1421;SHGC-30877;SHGC-87534 AP000240.4;BACH-1;BTBD24;HA2303 BTB and CNC homolog 1;OTTHUMP00000096563;OTTHUMP00000096564;basic region leucine zipper transcriptional regulator BACH1;transcription regulator protein BACH1 APPROVED protein-coding ENSG00000156273 HGNC:935 04127 114480;602751;609054 REVIEWED 735541 BAD BCL2-associated agonist of cell death The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 61364184 61379075 - 64037300 64052176 - 64269828 64284704 - 1580863;1300048;1579966;2292690;2292693;2292697;2314029;2292699;2292694;2292681;2292675;2292674;2292676;2292677;2292680;2292685;2292700;2292673;2292679;6480464;6484113;6907045;8554872 11781193;15339931;15345971;15625305;15632274;15851405;15941375;15968425;16103353;16944316;17004114;17607361;17870134;18078455;18198484;18347331;19641503 10195903;10381646;10407019;10521512;10558990;10579309;10611223;10620799;10811615;10837486;10837489;10880354;10949025;10949026;11077446;11206074;11278245;11410287;11483855;11494146;11500364;11544290;11583631;11689886;11697890;11717309;11739707;11742726;11839683;11878929;11908866;11994280;12084714;12087097;12115603;12137781;12239175;12376548;12477932;12657644;12754297;12787561;12842996;12897128;12931191;12954615;12965220;14702039;14767529;14967141;15033904;15078178;15131699;15183529;15226424;15231831;15280438;15489334;15574335;15694340;15705582;15721256;15722337;15731037;15751984;15767261;15784622;15849194;15901741;15978696;15990872;15998799;16148027;16189514;16297499;16403219;16413544;16445909;16484005;16603546;16697956;16710454;16728406;16767165;16785131;16843435;16847055;16908594;16932738;16949642;16978419;17011751;17110373;17270021;17274640;17287851;17289999;17393317;17404594;17420275;17438366;17446862;17457084;17474147;17499381;17541305;17544220;17557568;17670745;17696955;17696989;17900801;17927446;17979178;18006502;18029348;18165867;18246127;18276761;18309324;18387192;18391004;18402774;18402937;18420586;18449891;18508762;18508827;18568448;18593990;18628207;18636124;18651163;18651222;18676776;18775810;18798227;18832722;18852119;18973553;19168699;19171933;19508210;19587239;19593445;19624871;19641507;19667065;19679565;19730683;19773546;19882362;19895838;19913121;20012528;20043968;20339252;20596645;20618440;20628086;20647330;20691103;20700721;20810912;20855536;20877624;20936779;21076048;21081150;21187157;21302807;21317286;21419810;21444773;21674599;21849418;21900206;21918885;21988832;22011203;22057915;22096607;22172950;22214866;22423221;22464442;22805310;22837380;23135712;23383273;23547889;23794242;23811558;24038028;24040284;24247158;24255178;24421315;7834748;8929531;8929532;9130713;9305851;9369453;9381178;9388232;9389483;9463381;9651683;9824152;9878060;9973195 572 A8MXU7;F5GYS3;F5H1R6;F5H3B1;Q92934 AB451254;AB451378;ABBA01003295;ABBA01003296;AF021792;AF031523;AK023420;AK291863;AK303051;AK309150;AMYH02024932;AP001453;AW014069;BC001901;BC095431;BE255791;BG435829;BG748336;BT006678;CH471076;CR541935;CR541959;NM_004322;NM_032989;U66879 AAB36516;AAB72092;AAB88124;AAH01901;AAH95431;AAP35324;ABM86710;ABW03814;BAF84552;BAG64171;BAG70068;BAG70192;CAG46733;CAG46757;EAW74233;EAW74234;EAW74235;EAW74236;NP_004313;NP_116784;Q92934 Hs.370254 1663658;1675935;1682287;1686174;1793554;2112100;2180477;2217054;5037552 BAD_2670;D11S4747;D8S2279;PMC230316P4;RH27709;RH78541;RH80230;RH80521;SHGC-64070 BBC2;BCL2L8;bcl2-L-8 BCL-X/BCL-2 binding protein;BCL2-antagonist of cell death;BCL2-binding component 6;BCL2-binding protein;OTTHUMP00000165928;OTTHUMP00000165929;bcl-2 associated death agonist;bcl-2-binding component 6;bcl-2-like protein 8;bcl-XL/Bcl-2-associated death promoter;bcl2 antagonist of cell death APPROVED protein-coding ENSG00000002330 HGNC:936 04409 603167 REVIEWED 1319503 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 ENCODES a protein that exhibits RNA polymerase II distal enhancer sequence-specific DNA binding (inferred); RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-anisomycin; arsenous acid; cyclosporin A 6 6 6 q15 91056791 91427144 - 90636247 91006627 - 89926528 90296908 - 1580863;6480464;8554872 10669750;10809773;10949928;11746976;11923289;12477932;12829606;14574404;14982850;15060166;15146197;16344560;16832351;17018862;17044046;17262715;17383980;17620599;17991429;18256039;18769450;18840781;18929412;18978792;19073967;19430480;19850743;20125193;20190752;20203524;20379614;20647273;21102463;21145461;21412927;21829393;21833088;21841780;22194330;22561518;22589738;22858985;22899287;23128233;23251661;23273568;23382691;23661758;23852341;23865571;23936317;24022229;24075570;24346624;24450488;24608439;24968937;8887638 60468 Q7Z6Q0;Q9BYV9 AA885077;AB208889;ABBA01040546;ABBA01040547;ABBA01040548;AF357835;AI524722;AJ271878;AK309526;AL117342;AL121787;AL121941;AL158136;AL159164;AL353692;AL512739;AMYH02014093;AMYH02014094;AMYH02014095;AMYH02014096;AMYH02014097;AMYH02014098;BC070239;CH471051;CN261405;DB077323;DB240991;HE578164;HE578165;HE578166;HE578167;HE578168;HE578169;HE578170;HE578171;HE578172;HE578173;HE578174;HE578175;HE578176;HI573894;NM_001170794;NM_021813;XM_005248758;XM_005248759;XM_006715545 AAI66613;AAK48898;BAD92126;CAC28130;CBX47436;CCD17753;CCD17754;CCD17755;CCD17756;CCD17757;CCD17758;CCD17759;CCD17760;CCD17761;CCD17762;CCD17763;CCD17764;CCD17765;EAW48530;EAW48531;EAW48532;EAW48533;EAW48534;NP_001164265;NP_068585;Q9BYV9;XP_005248815;XP_005248816;XP_006715608 Hs.269764 1298111;1645990;1646943;1667667;1673765;1699082;1700886;1715697;1719763;1719777;1731403;1739079;1757687;1849489;2126107;2129817;2132948;2178674;2181219;2218290;5093886;7185100 A008R03;A009Y20;BACH2_4426;D6S1351;D6S1506;D6S366;D6S462;G17026;G17078;G32982;RH103117;RH104070;RH119295;RH123573;RH123580;RH16500;RH37451;RH65350;SGC34793;SHGC-146246;SHGC-34604 BTBD25 BTB and CNC homolog 2;OTTHUMP00000016867;OTTHUMP00000016868;transcription regulator protein BACH2 protein-coding ENSG00000112182 HGNC:14078 12012 605394 VALIDATED 1343744 BAG2 BCL2-associated athanogene 2 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008] 6 6 6 p12.1-p11.2 58700203 58713112 + 57037104 57050013 + 57172306 57185215 + 1580863;6480464;6907045 11076863;11230166;11256614;12477932;14574404;14702039;15271996;15489334;15489336;16159877;16169850;16196087;16207813;16344560;16381901;17110338;17203973;17353931;17569659;18457437;19156129;19738201;19875381;20020773;20547759;21081666;21139048;21145461;21906983;21963094;21987572;22365833;22451720;22505724;22863883;22912744;23000965;23275444;23349634;23383273;23398456;23402259;23438482;23443559;23667531;23752268;23824909;23956138;24244333;24255178;24318877;24332808;24383081;24513209;24811749;24816145;25015289;25036637;9873015;9873016 9532 A2A296;O95816 ABBA01050484;AF095192;AK001015;AK023735;AK301934;AL031321;AL050287;AL136311;AMYH02013783;BC125039;CA442969;CH471081;CR533496;DA874388;NM_004282;XM_005249490 AAD16121;AAI25040;BAG50848;BAG51221;BAG63354;CAB43388;CAG38527;CAL37573;CAL37883;EAX04475;NP_004273;O95816;XP_005249547 Hs.745046 1688779;1694200;1775286;2107879 AL035194;BAG2_7951;RH46599;SHGC-34200 BAG-2;KIAA0576;MGC149462;dJ417I1.2 BAG family molecular chaperone regulator 2;BAG-family molecular chaperone regulator-2;OTTHUMP00000016668;bcl-2-associated athanogene 2;dJ417I1.2 (BAG-family molecular chaperone regulator 2) APPROVED protein-coding HGNC:938 04859 603882 REVIEWED 1313091 BAG1 BCL2-associated athanogene The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010] 9 9 9 p12 33182605 33194897 - 33252469 33264759 - 33252471 33264761 - 1580863;2292908;2296021;2293888;2293886;2293889;2293885;6480464;6907045 10047462;11181661;12215270;15297164;17503439;18430249 10467399;10477749;10671488;10816573;10967105;11076863;11101523;11222862;11231577;11256614;11257006;11278763;11340068;11520069;11676916;11741305;11994280;12049201;12297498;12402153;12421809;12477932;12724406;12845674;12853476;12874020;14517289;14532969;14680805;14702039;14978028;15075668;15169918;15199607;15309313;15489334;15489336;15538384;15603737;15707960;15831476;15843891;15986447;16042572;16207813;16292491;16381901;16398049;16457154;16482527;17278878;17549665;17657847;17662274;17693608;17700523;17950682;17954934;18029348;18204076;18388150;18413740;18523358;18684711;18805052;18822299;19060904;19066611;19151744;19229298;19243896;19293798;19317853;19546472;19595997;19778524;19800331;19881545;19913121;20096920;20156966;20237496;20404511;20409521;20628086;20675402;20819778;20855536;20858459;21036726;21157029;21195059;21522149;21809033;21890473;21986497;21988832;22016818;22179630;22439756;22454210;22863883;22939115;22939629;23000965;23023342;23049684;23059827;23108401;23178238;23271418;23322525;23493285;23553841;23708800;23852223;24061638;24250222;24318877;24454860;24523409;24811749;25036637;7834747;8125298;8524784;8692945;8812483;8889548;8947043;9305631;9396724;9565586;9582267;9603979;9642262;9679980;9747877;9774640;9873016 573 C9J9Y9;C9JYK5;F1LLU6;J3QTA2;Q99933 ABBA01065064;AF022224;AF116273;AK093238;AK096038;AK222749;AK316577;AL161445;AL356472;AMYH02019416;AMYH02019417;BC001936;BC014774;BG723775;CH471071;CN478628;NG_029018;NM_001172415;NM_004323;U46917;Z35491 AAC34258;AAD11467;AAD25045;AAH01936;AAH14774;BAD96469;CAA84624;CAL37446;EAW58514;EAW58515;EAW58516;EAW58517;NP_001165886;NP_004314;Q99933 Hs.377484 1735932;1777155;2123336;2137726;2154720;2183285;5015881;5124315 A002S09;D9S1064E;GDB:335751;RH18169;RH47281;RH69938;STS-S83171;STS-Z35491 BAG-1;HAP;RAP46 BAG family molecular chaperone regulator 1;Bcl-2 associating athanogene-1 protein;Bcl-2-binding protein;OTTHUMP00000021198;OTTHUMP00000021199;bcl-2-associated athanogene 1;glucocortoid receptor-associated protein RAP46;receptor-associated protein, 46-KD APPROVED protein-coding ENSG00000107262 HGNC:937 03292 601497 REVIEWED 1350570 BAG4 BCL2-associated athanogene 4 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011] 8 8 8 p11.23 36986642 37021084 + 38034106 38070819 + 38176588 38213301 + 1580863;2292150;2325852;6480464;6484113 10799310;12655295 10508612;11527400;11909948;12017295;12058034;12477932;12706861;12875962;14559896;15489334;17178857;17366557;17605853;18029348;19322201;19913121;20628086;20855536;21139048;21145461;23190898;23341456;24250222;24778252;25036637;8889548;9873016;9915703 9530 H0YBT1;O95429 ABBA01023544;ABBA01023545;ABBA01023546;ABBA01023547;ABBA01023548;AC084024;AF095194;AF111116;AI640615;AK304072;AK314020;AL049466;AMYH02017826;AMYH02017827;BC000800;BC038505;BM683128;CH471080;NM_001204878;NM_004874 AAD05226;AAD16123;AAH38505;BAG36731;BAG64979;EAW63330;EAW63331;NP_001191807;NP_004865;O95429 Hs.194726 1645448;1684032;1735832;1795414;1856380;1856671;2160331 BAG4_88;D8S1432E;RH25151;RH78257;SGC34731;SHGC-30117;SHGC-56788 BAG-4;DKFZp586O2022;SODD BAG family molecular chaperone regulator 4;BAG-family molecular chaperone regulator-4;OTTHUMP00000225745;OTTHUMP00000225746;bcl-2-associated athanogene 4;silencer of death domains APPROVED protein-coding ENSG00000156735 HGNC:940 04861 603884 REVIEWED 1317192 BAG3 BCL2-associated athanogene 3 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008] 10 10 10 q25.2-q26.2 115141910 115168393 + 121410859 121437331 + 119651347 119677819 + 1580863;2325847;2325848;2325843;6480464;7240710;8554872;8699517 11513873 10597216;10980614;11527400;11591653;12477932;12700638;12706811;12750378;15302935;15489334;15592455;16094384;16189514;16385451;16391524;16859681;16964243;17081983;17164298;17187345;17507989;17623298;17974966;17996194;18006506;18029348;18094623;18286539;18457437;18469860;18821563;19085932;19088197;19111544;19144635;19212330;19229298;19282432;19352495;19615732;19777443;19845507;19850283;19913121;20018251;20060297;20232307;20301486;20301672;20368414;20535599;20605452;20607728;20628086;20723284;20800573;20800603;20811636;20819778;20855536;20884878;20936779;21044950;21139048;21233200;21252941;21302292;21316839;21353195;21361913;21423662;21451574;21459883;21472004;21561597;21683594;21696420;21767525;21850027;21890473;21898660;21903422;21963094;21971866;22020323;22072743;22302993;22310281;22734908;22863883;22939629;22944597;22984599;23000965;23108398;23271418;23341456;23395971;23434281;23553442;23575457;23582692;23667531;23824909;23876161;23978946;24080088;24140207;24286317;24318877;24365746;24623017;24816145;25036637;8125298;9873016 9531 C9JFK9;O95817 ABBA01062888;ABBA01062889;AC012468;AF071218;AF095193;AF127139;AK222800;AK291333;AK313026;AL137582;AMYH02023910;AMYH02023911;BC006418;BC014656;BC107786;CH471066;NG_016125;NM_004281;XM_005270287 AAD16122;AAF26839;AAF69592;AAH06418;AAH14656;AAI07787;ABM84342;ABM87771;BAD96520;BAF84022;CAB70824;EAW49382;EAW49383;NP_004272;O95817;XP_005270344 Hs.523309 1665119;2107881;2148028 BAG3_7950;Bda24g05;D10S2397 BAG-3;BIS;CAIR-1;MFM6;MGC104307 BAG family molecular chaperone regulator 3;BAG-family molecular chaperone regulator-3;BCL2-binding athanogene 3;OTTHUMP00000020599;bcl-2-associated athanogene 3;bcl-2-binding protein Bis;docking protein CAIR-1 APPROVED protein-coding ENSG00000151929 HGNC:939 04860 603883;612954;613881 REVIEWED 1321985 BAG5 BCL2-associated athanogene 5 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q32.33 84077135 84083397 - 104022881 104029151 - 103556544 103562814 - 1580863;6480464 10048485;12477932;14702039;15489334;15603737;16344560;19001729;19615732;19913121;19946888;20473970;20628086;20819778;20855536;21131737;21139048;21145461;21358815;21988832;22678362;22863883;23000965;23448667;23667531;23891004;24255178;24510904;24816145;25036637;7834747;8125298;9321400;9873016 9529 G3V274;Q9UL15 AA481394;AB020680;ABBA01048422;AF095195;AK001378;AK023145;AK225730;AK225741;AK291312;AL139300;AMYH02029927;BC044216;BC050551;BF941752;BG719955;BI561258;CA424706;CH471061;DB022769;DB457402;NM_001015048;NM_001015049;NM_004873 AAD16124;AAH44216;AAH50551;BAA74896;BAF84001;EAW81826;EAW81827;EAW81828;NP_001015048;NP_001015049;NP_004864;Q9UL15 Hs.5443 1648326;1855116;1856677;2217056;5015961 BAG5_3934;D14S1221;D15S1477;RH48083;RH69364 BAG-5 BAG family molecular chaperone regulator 5;BAG-family molecular chaperone regulator-5;OTTHUMP00000246786;OTTHUMP00000246787;OTTHUMP00000246788;bcl-2-associated athanogene 5 APPROVED protein-coding ENSG00000166170 HGNC:941 04862 603885 REVIEWED 1344125 BAGE B melanoma antigen This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). [provided by RefSeq, Jul 2008] 7 21 p11.1 146528012 146530023 - 11057796 11059817 - 6480464;8554872 12115308;12461691;12477932;12676563;15704127;18541613;20423514;7895173 574 Q13072;Q29RY1 ABBA01003660;AF499647;AF527550;AF527551;AF527552;AF527553;AF527554;BC107038;BC107039;BC113810;NM_001187;U19180 AAC50123;AAI07039;AAI07040;AAI13811;AAO32670;AAO32671;AAO32672;AAO32673;AAO32674;AAP30743;NP_001178;Q13072 Hs.545789;Hs.571595;Hs.624543 2218734;5022578;5022651;5109281;5113787 BAGE__4427;D11S2921;D1S1423;D1S1425;RH79776 BAGE1;CT2.1 B melanoma antigen 1;antigen MZ2-BA;cancer/testis antigen 2.1;cancer/testis antigen family 2, member 1 APPROVED protein-coding HGNC:942 05523 605167 REVIEWED 733092 BAG6 BCL2-associated athanogene 6 This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33205026 33218698 - 31606805 31620953 - 31639028 31660767 - 1580863;6480464;8554872 10390159;11230127;11584289;11587531;12477932;12938929;14574404;14656967;14667819;14960581;15231747;15231748;15302935;15451437;15489334;16169070;16189514;16196087;16344560;16713569;16777091;1684176;16954377;16964243;17081983;17203973;17353931;17403783;17643375;17672918;18055229;18056262;18757527;18765639;18781797;18835879;18852879;18976975;18978787;19018758;19115949;19242354;19357808;19542561;19615732;19654303;19738201;19815544;19836008;19837266;19851445;19913121;19955392;20098615;20106900;20385987;20453000;20516149;20587610;20626023;20628086;20676083;20713601;20800603;21139048;2156268;21636303;21726808;21844665;21890473;21900206;21903422;21906983;21909115;21940994;21963094;21987572;21988832;22053931;22174835;22190034;22285488;22373577;22505724;22558287;22641691;22779921;22797925;22863785;22863883;23000965;23077592;23129660;23246001;23349634;23383273;23455924;23533635;23602568;23665563;23723067;23894747;23900548;24133212;24160817;24583282;24778252;24806960;24811749;24816145;24885147;25036637;2813433;2911734 7917 F6RG75;F6S6P2;F6TC96;F6U1F2;F6U341;F6UR09;F6VEM6;F6WML8;F6X9W3;F6XTU0;H0Y4L1;H0Y583;H0Y710;H0Y759;H0Y7K4;P46379;X6RCT4;X6REW1 ABBA01038083;ABBA01038084;AF129756;AK302695;AK304879;AL662801;AL662847;AL662899;AL670886;AL805934;AMYH02013452;AU134255;BA000025;BC003133;BF515863;BU628873;BX384328;BX511262;BX647244;CH471081;CR354443;CR753842;CR753892;CR759761;CX758454;DB454794;DB459208;DB492350;M33519;M33520;M33521;NM_001098534;NM_001199697;NM_001199698;NM_004639;NM_080702;NM_080703;XM_005249393;XM_005249396;XM_005272880;XM_005272883;XM_005275034;XM_005275037;XM_005275169;XM_005275172;XM_005275292;XM_005275295;XM_005275464;XM_005275468;XM_005275597;XM_005275601;XM_006715192;XM_006715193;XM_006715194;XM_006715195;XM_006715196;XM_006715197;XM_006715198;XM_006715199;XM_006715200;XM_006715201;XM_006715202;XM_006715203;XM_006725509;XM_006725510;XM_006725511;XM_006725512;XM_006725513;XM_006725514;XM_006725515;XM_006725516;XM_006725517;XM_006725518;XM_006725519;XM_006725520;XM_006725725;XM_006725726;XM_006725727;XM_006725728;XM_006725729;XM_006725730;XM_006725731;XM_006725732;XM_006725733;XM_006725734;XM_006725735;XM_006725736;XM_006725835;XM_006725836;XM_006725837;XM_006725838;XM_006725839;XM_006725840;XM_006725841;XM_006725842;XM_006725843;XM_006725844;XM_006725845;XM_006725846;XM_006725923;XM_006725924;XM_006725925;XM_006725926;XM_006725927;XM_006725928;XM_006725929;XM_006725930;XM_006725931;XM_006725932;XM_006725933;XM_006725934;XM_006726025;XM_006726026;XM_006726027;XM_006726028;XM_006726029;XM_006726030;XM_006726031;XM_006726032;XM_006726033;XM_006726034;XM_006726035;XM_006726036;XM_006726113;XM_006726114;XM_006726115;XM_006726116;XM_006726117;XM_006726118;XM_006726119;XM_006726120;XM_006726121;XM_006726122;XM_006726123;XM_006726124 AAA35587;AAA35588;AAD18085;AAH03133;BAB63390;BAG63924;BAG65616;CAI46045;EAX03453;EAX03454;EAX03455;EAX03456;EAX03457;EAX03458;EAX03459;EAX03460;NP_001092004;NP_001186626;NP_001186627;NP_004630;NP_542433;NP_542434;P46379;XP_005249450;XP_005249453;XP_005272937;XP_005272940;XP_005275091;XP_005275094;XP_005275226;XP_005275229;XP_005275349;XP_005275352;XP_005275521;XP_005275525;XP_005275654;XP_005275658;XP_006715255;XP_006715256;XP_006715257;XP_006715258;XP_006715259;XP_006715260;XP_006715261;XP_006715262;XP_006715263;XP_006715264;XP_006715265;XP_006715266;XP_006725572;XP_006725573;XP_006725574;XP_006725575;XP_006725576;XP_006725577;XP_006725578;XP_006725579;XP_006725580;XP_006725581;XP_006725582;XP_006725583;XP_006725788;XP_006725789;XP_006725790;XP_006725791;XP_006725792;XP_006725793;XP_006725794;XP_006725795;XP_006725796;XP_006725797;XP_006725798;XP_006725799;XP_006725898;XP_006725899;XP_006725900;XP_006725901;XP_006725902;XP_006725903;XP_006725904;XP_006725905;XP_006725906;XP_006725907;XP_006725908;XP_006725909;XP_006725986;XP_006725987;XP_006725988;XP_006725989;XP_006725990;XP_006725991;XP_006725992;XP_006725993;XP_006725994;XP_006725995;XP_006725996;XP_006725997;XP_006726088;XP_006726089;XP_006726090;XP_006726091;XP_006726092;XP_006726093;XP_006726094;XP_006726095;XP_006726096;XP_006726097;XP_006726098;XP_006726099;XP_006726176;XP_006726177;XP_006726178;XP_006726179;XP_006726180;XP_006726181;XP_006726182;XP_006726183;XP_006726184;XP_006726185;XP_006726186;XP_006726187 Hs.440900 1786108;2106193;2106195;2142964;2150577;2189745;5491655;5492039 AA900379;D6S2784;K11;MARC_5411-5412:996690356:1;N3_2_3;RH35871;RH71456;SHGC-172531 BAG-6;BAT3;D6S52E;G3 BAG family molecular chaperone regulator 6;HLA-B associated transcript 3;HLA-B associated transcript-3;HLA-B-associated transcript 3;OTTHUMP00000029237;OTTHUMP00000029238;OTTHUMP00000029239;large proline-rich protein BAG6;large proline-rich protein BAT3;scythe APPROVED protein-coding ENSG00000204463 HGNC:13919 00808 142590 REVIEWED 1351944 BAGE3 B melanoma antigen family, member 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 7 21 p11.2 146484599 146528514 - 11020842 11058323 - 8554872 12461691;12477932;12676563;16009131;17803354;7895173 85318 Q86Y29 AF339514;BC101134;NM_182481 AAI01135;AAO32634;NP_872287;Q86Y29 Hs.545789 2149244;2187719;2218734 BAGE__4427;D7S3206;GDB:1318392 CT2.3 B melanoma antigen 3;cancer/testis antigen 2.3;cancer/testis antigen family 2, member 3 protein-coding HGNC:15728 10685 PROVISIONAL 1349446 BAGE2 B melanoma antigen family, member 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH torcetrapib 7 21 21 p 146484599 146528514 - 11020842 11098925 - 10413532 10491615 + 6480464;8554872 12461691;12477932;12676563;12909339;15489334;16963709;17803354;18074101;23936387 85319 Q86Y30 AC244111;AF218570;AF254983;AK292540;BC101132;BC101133;NM_182482 AAI01133;AAI01134;AAI72334;AAL55648;BAF85229;NP_872288;Q86Y30 Hs.545789 1768780;2149244;2187719;2218734 BAGE__4427;D7S3206;GDB:1318126;GDB:1318392 CT2.2 B melanoma antigen 2;cancer/testis antigen 2.2;cancer/testis antigen family 2, member 2 protein-coding HGNC:15723 16535 VALIDATED 1342618 BAGE4 B melanoma antigen family, member 4 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 21 p11.1 10042713 10120796 - 6480464;8554872 12461691;12676563;7895173 85317 Q86Y28 ABBA01136834;AF339515;NM_181704 AAI60157;AAO32635;NP_859055;Q86Y28 Hs.545789 1737403;2137693;2149244;2187719;2218734 BAGE__4427;D13S981;D7S3206;G18004;GDB:1318392 CT2.4;MGC119851;MGC119852;MGC119853;MLL3P B melanoma antigen 4;MLL3 pseudogene;cancer/testis antigen 2.4;cancer/testis antigen family 2, member 4 protein-coding HGNC:15730 16536 PROVISIONAL 1348044 BAGE5 B melanoma antigen family, member 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) cen 8554872 12461691;12676563;7895173 85316 Q86Y27 AF339516;NM_182484 AAI56847;AAO32636;NP_872290;Q86Y27 Hs.545789 CT2.5 B melanoma antigen 5;cancer/testis antigen 2.5;cancer/testis antigen family 2, member 5 protein-coding HGNC:15732 16537 PROVISIONAL 1606249 BAHCC1 BAH domain and coiled-coil containing 1 ENCODES a protein that exhibits chromatin binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; hydrogen peroxide 17 17 17 q25.3 76011627 76080540 + 79373540 79433358 + 81399721 81466332 + 6480464;8554872 10819331;12421765;12477932;14702039;21988832 57597 F8WBW8;Q9P281 AB040880;ABBA01032144;ABBA01032145;ABBA01032146;ABBA01032147;AC110285;AC139149;AC153475;AC213194;AF086116;AK026711;AK056636;AL713748;AMYH02034127;AMYH02034128;BC033222;BC050673;CH471099;NM_001080519;NM_001291324;XM_006721988;XM_006721989;XM_006721990 AAH33222;BAA95971;BAB15535;EAW89652;NP_001073988;NP_001278253;Q9P281;XP_006722051;XP_006722052;XP_006722053 Hs.514580 1672230;1677320;2191437 MARC_21859-21860:1027094458:1;RH48026;RH99048 BAHD2;FLJ23058;KIAA1447 BAH and coiled-coil domain-containing protein 1;BAH domain-containing protein 2;bromo adjacent homology domain-containing protein 2 protein-coding ENSG00000266074 HGNC:29279 VALIDATED 1345980 BAHD1 bromo adjacent homology domain containing 1 ENCODES a protein that exhibits chromatin binding; INVOLVED IN heterochromatin assembly; negative regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN chromatin silencing complex; INTERACTS WITH copper(2+) sulfate; menadione; ouabain 15 15 15 q15.1 17499558 17526585 + 40733411 40760441 + 40439721 40468242 + 737633;1580863;6480464;8554872 12477932 10231032;12421765;16189514;18187620;19666599;19913121;20628086;21252314;21900206;23455924;24449750;8889548 22893 Q8TBE0 AB023162;ABBA01038449;AC013356;AL833923;AMYH02030240;AMYH02030241;BC022782;BU740533;CH471125;HY041603;HY353002;NM_001301132;NM_014952;NR_125372;XM_005254229;XM_005254230;XM_005254231;XM_006720436 AAH22782;ADZ15491;BAA76789;CAD38779;EAW92416;EAW92417;EAW92418;NP_001288061;NP_055767;Q8TBE0;XP_005254286;XP_005254287;XP_005254288;XP_006720499 Hs.22109 1667845;1683120;2107883;2111232 BAHD1_9281;D15S486;RH91414;STS-N50033 KIAA0945 BAH domain-containing protein 1;OTTHUMP00000160443;bromo adjacent homology domain-containing 1 protein protein-coding ENSG00000140320 HGNC:29153 12518 613880 VALIDATED 1313737 BAI1 brain-specific angiogenesis inhibitor 1 Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008] 8 8 8 q24.3 139855778 139937685 + 143545377 143626369 + 142464016 142545008 + 1580863;6480464;6907045;8554872 10343108;10748157;11245925;11875720;11937501;12074842;12507886;12543931;14702039;14980512;15203201;19615732;21724586;22330140;23190742;23595754;23782696;24509909;7531056;9393972;9533023;9647739;9772287;9790924 575 E5RG74;O14514 AB005297;ABBA01029407;ABBA01029408;ABBA01029409;ABBA01029410;AC139676;AK123982;AMYH02018922;AMYH02018923;AMYH02018924;CH471162;NM_001702;XM_005251015 AAI56201;BAA23647;EAW82323;NP_001693;O14514;XP_005251072 Hs.194654 2151185 GDB:314333 FLJ41988 GDAIF;OTTHUMP00000227339;OTTHUMP00000227746 APPROVED protein-coding ENSG00000181790 HGNC:943 04062 602682 REVIEWED 1320187 BAI3 brain-specific angiogenesis inhibitor 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008] 6 6 6 q12 69732521 70486170 + 69345210 70099403 + 68635318 69389511 + 1580863;6480464;8554872 12168954;12477932;15123239;15203201;15489334;18628273;19240061;19913121;20339536;20379614;20628086;20677014;20946148;21262840;21829377;22158540;22219177;9533023;9628581 577 B7Z1K0;J3KMY8;O60242;S4R307;S4R3D0 AB005299;AB011122;ABBA01008896;ABBA01008897;ABBA01008898;ABBA01008899;ABBA01008900;ABBA01008901;ABBA01008902;ABBA01008903;ABBA01008904;ABBA01008905;ABBA01008906;ABBA01008907;AK289696;AK293560;AK295516;AK316174;AL035469;AL078598;AL133378;AL158051;AL160401;AL356117;AL359714;AL391807;AL589875;AMYH02013864;AMYH02013865;AMYH02013866;AMYH02013867;BC111720;CH471051;CR740925;DB446627;KF458189;KF458193;NM_001704;XM_005248752;XM_005248753;XM_006715534 AAI11721;BAA25363;BAA25476;BAF82385;BAH11536;BAH12092;BAH14545;EAW48836;EAW48837;NP_001695;O60242;XP_005248809;XP_005248810;XP_006715597 Hs.13261 1334986;1337517;1338719;1656493;1685177;1685988;1708134;1715561;1735618;1750071;1851901;1852548;2126342;2161945;2217060;5494100 BAI3_3939;D6S1150E;D6S1225E;D6S1406;D6S1619;D6S1903;D6S467;D6S965;RH120922;RH15836;RH18425;RH25141;SHGC-112231;SHGC-3712;SHGC-81469;fd06g06.y1 KIAA0550;MGC133100 OTTHUMP00000016691;dJ91B17.1 (brain-specific angiogenesis inhibitor 3) APPROVED protein-coding ENSG00000135298 HGNC:945 04064 602684 REVIEWED 732926 BAIAP2 BAI1-associated protein 2 The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] 17 17 17 q25 75655595 75719320 + 79008944 79091232 + 81035144 81117432 + 1580863;6480464;6484113 10332026;10343108;10460236;10814512;11130076;11157984;11696321;12054568;12477932;12504591;12598619;12884081;14596909;14667819;14702039;14752106;15289329;15324660;15489334;15592455;15635447;15673667;16169070;16189514;16702231;16712791;16713569;17003044;17115031;17353931;17361185;17371834;17979178;18029348;18215522;18417251;19054385;19056867;19171758;19193906;19286134;19366662;19460367;19733838;19762983;19933840;19953087;20360004;20418908;20585556;20621182;20678498;20888579;20936779;21139048;21542353;21814501;21832049;21893288;21906983;21988832;22179776;22767515;23000965;23455924;23602568;24163370;24165937;24255178;24377651;24392092;24550385;24584464;8125298 10458 B4DWA1;I3L0M4;I3L0Y9;I3L113;I3L125;I3L1C8;I3L2J6;I3L2M4;I3L327;I3L3C5;I3L3C6;I3L3J7;I3L4A3;I3L4C2;I3L526;Q9UQB8 AB015019;AB015020;AB017119;AB017120;AB104726;ABBA01032123;AC115099;AC127496;AK023688;AK056888;AK222670;AK225612;AK297644;AK298629;AK301436;AMYH02034117;AMYH02034118;BC002495;BC014020;BC032559;CB153324;CH471099;KC877672;NG_029486;NM_001144888;NM_006340;NM_017450;NM_017451;U70669;XM_005256943;XM_005256944;XM_005256945;XM_005256948;XM_006721635;XM_006721636;XM_006721637;XM_006721638;XR_429867 AAB93497;AAH14020;AAH32559;ABM84382;ABM87328;BAA36586;BAA36587;BAA74773;BAA74774;BAC57945;BAC57946;BAC57947;BAC57948;BAD96390;BAG51821;BAG60012;BAG60805;BAG62963;EAW89625;EAW89626;EAW89627;EAW89628;NP_001138360;NP_006331;NP_059344;NP_059345;Q9UQB8;XP_005257000;XP_005257001;XP_005257002;XP_005257005;XP_006721698;XP_006721699;XP_006721700;XP_006721701 Hs.128316 1656532;1680523;1697596;1758653;1783506 RH102309;RH15981;RH36794;SHGC-147371;SHGC-149058 BAP2;FLAF3;IRS-58;IRSP53;IRSp53/58 BAI-associated protein 2;brain-specific angiogenesis inhibitor 1-associated protein 2;fas ligand-associated factor 3;insulin receptor substrate p53;insulin receptor substrate p53/p58;insulin receptor substrate protein of 53 kDa APPROVED protein-coding ENSG00000175866 HGNC:947 05686 605475 REVIEWED 1319770 BAI2 brain-specific angiogenesis inhibitor 2 This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 1 1 1 p35 30461955 30498884 - 32192718 32230494 - 31727111 31764047 - 1580863;6480464;8554872 10964907;12218411;12477932;12508107;12543931;14697242;14702039;15123239;15203201;15225653;16169070;16344560;16412436;16710414;20367554;20677014;21787750;9533023 576 A2A3C1;A2A3C2;A2A3C3;A2A3C4;A2A3C6;B4DKC3;E9PND1;O60241 AB005298;AB065648;ABBA01023452;ABBA01023453;AC114488;AI291691;AK123392;AK294361;AK294999;AK296502;AK307805;AL354919;AMYH02000686;AX646677;BC009035;BC014780;BC136533;BE379230;CH471059;DA314854;DA494051;NM_001294335;NM_001294336;NM_001703;XM_005271067;XM_006710783;XM_006710784;XM_006710785;XM_006710786;XM_006710787;XM_006710788;XM_006710789;XM_006710790 AAH09035;AAI36534;BAA25362;BAC05874;BAG57625;BAG58063;BAG59135;CAD69465;EAX07589;EAX07590;EAX07591;EAX07592;EAX07593;EAX07594;NP_001281264;NP_001281265;NP_001694;O60241;XP_005271124;XP_006710846;XP_006710847;XP_006710848;XP_006710849;XP_006710850;XP_006710851;XP_006710852;XP_006710853 Hs.524138 1656178;1665645;2117936;2217058 BAI2_3938;G06240;IB428;STS-G06240 Brain-specific angiongenesis inhibitor-2;OTTHUMP00000003957;OTTHUMP00000195038;OTTHUMP00000195040;OTTHUMP00000195041;OTTHUMP00000195042;OTTHUMP00000228424;OTTHUMP00000228425 APPROVED protein-coding ENSG00000121753 HGNC:944 04063 602683 REVIEWED 2303670 BAIAP2-AS1 BAIAP2 antisense RNA 1 (head to head) INTERACTS WITH (+)-catechin; valproic acid 17 17 17 q25.3 75630453 75636018 - 79002933 79008519 - 81029133 81034719 - 6480464 12477932;14702039;16303743 440465 Q8NBT7 ABBA01032123;AC127496;AK027350;AK056555;AK075238;AK096609;AK124762;AMYH02034117;BC110822;CH471099;CQ783882;NR_026857 BAC11491;CAF86906;EAW89624 Hs.448889 2172023;5020274 A006D02;L18441 FLJ14444;FLJ31993;FLJ39290;FLJ42772;MGC131745 APPROVED ncrna ENSG00000226137 HGNC:44342 13544 VALIDATED 1352215 BAIAP2L1 BAI1-associated protein 2-like 1 This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009] 7 7 7 q22.1 92614864 92724061 - 97920962 98030427 - 98291650 98401115 - 6480464 10931946;12477932;12690205;12853948;14752106;15324660;15489334;16344560;17081983;17430976;17568789;18029348;18215522;19056867;19366662;19807924;20562859;20811636;21098279;21139048;21840312;21887275;21906983;21963094;22219177;22745667;22829776;22921828;23175443;23251661;23383273;23693078;24163370;8889548;9847074 55971 Q9UHR4 ABBA01045726;ABBA01045727;ABBA01045728;ABBA01045729;ABBA01045730;ABBA01045731;AC004841;AC093169;AC093799;AF119666;AK027109;AK027142;AK074419;AK124269;AK309936;AMYH02016328;AMYH02016329;AMYH02016330;AMYH02016331;BC013888;BI560834;BM977002;CH236956;CH471091;DA442866;NG_013090;NM_018842 AAD20937;AAF17223;AAH13888;AAS07549;AAS07550;ACE87078;ACE87758;BAB15671;EAL23890;EAW76706;EAW76707;NP_061330;Q9UHR4 Hs.656063 1648473;1657652;1675120;1679936;1683687;1689771;1703246;2154605 D7S2754;G09735;GDB:1317708;RH12625;RH79669;RH92769;RH98644;SGC31939 FLJ42275;IRTKS BAI1-associated protein 2-like protein 1;OTTHUMP00000205450;brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1;insulin receptor tyrosine kinase substrate APPROVED protein-coding ENSG00000006453 HGNC:21649 11270 611877 REVIEWED 1342805 BAIAP2L2 BAI1-associated protein 2-like 2 The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012] 22 22 22 q13.1 22282641 22311373 - 38480896 38506971 - 38084883 38110964 - 6480464;8554872 10591208;12477932;12975309;15489334;18029348 80115 B0QYF0;Q6UXY1;Q9H661 ABBA01055502;ABBA01055503;ABBA01055504;ABBA01055505;AK026235;AK026263;AL022322;AL031587;AMYH02038352;AMYH02038353;AMYH02038354;AW007403;AY358164;CH471095;KF457452;NG_033059;NM_025045;XM_005261751 AAQ88531;ADZ16019;BAB15405;EAW60216;EAW60217;NP_079321;Q6UXY1;XP_005261808 Hs.474822 1657752;1682001;1690886;1754415;1796518;2148214;5019571 AU047468;PLA2G6_1043;RH66642;RH93923;RH99077;SHGC-132435;SHGC-31786 FLJ22582 BAI1-associated protein 2-like protein 2;OTTHUMP00000199353;brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2;pinkbar;planar intestinal- and kidney-specific BAR domain protein protein-coding ENSG00000128298 HGNC:26203 07997 REVIEWED 1318052 BAIAP3 BAI1-associated protein 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 16 16 16 p13.3 1598966 1613557 + 1383606 1399442 + 1333605 1349441 + 6480464;8554872 11076863;11157797;11230166;12168954;12477932;12498718;15489334;15489336;15616553;16381901;23698091;8619474;9110174;9790924;9872452 8938 H3BPP9;H3BV46;O94812 AB018277;ABBA01030310;ABBA01030311;AE006467;AF038191;AK294491;AK294576;AK294744;AK295645;AK299309;AK299358;AK315059;AL031709;AL834321;AMYH02031226;AMYH02031227;BC104966;BC112129;BF448577;CH471112;DC318470;NG_033974;NM_001199096;NM_001199097;NM_001199098;NM_001199099;NM_001286464;NM_003933 AAI04967;AAI12130;AAK61275;BAA34454;BAG37534;BAG57713;BAG57768;BAG57886;BAG58515;BAG61321;BAG61353;CAH56376;CAL38712;EAW85670;EAW85671;EAW85672;NP_001186025;NP_001186026;NP_001186027;NP_001186028;NP_001273393;NP_003924;O94812 Hs.458427 1656992 RH70716 BAP3;KIAA0734;MGC138334 BAI-associated protein 3;OTTHUMP00000045501;OTTHUMP00000158651 APPROVED protein-coding ENSG00000007516 HGNC:948 04925 604009 REVIEWED 1353034 BAK1 BCL2-antagonist/killer 1 The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 35094701 35102448 - 33540323 33548072 - 33572546 33580296 - 1580863;2313963;2315700;2315701;2313975;2315703;1643479;2315709;2316133;6480464;6907045 11232245;12771926;16962107;17322918;18817839;18993028;19222350;9894249 10085290;10365962;10381623;10381646;10579309;10639121;10837489;10950869;11175750;11206074;11326099;11571294;11728179;11795669;11867266;11908704;11929871;11932420;11940658;11964315;12070120;12137781;12176904;12297281;12454021;12477932;12624108;12624178;12721291;12808108;12847083;12881569;14574404;14596824;14647456;14702039;14980220;15003505;15077116;15124764;15159409;15194786;15248898;15292519;15322047;15351796;15467752;15478112;15489334;15637055;15638360;15638362;15757910;15846303;15846589;15901672;16172118;16189514;16199525;16341674;16376985;16410245;16436379;16439990;16529740;16645094;16712791;16794010;16847458;16874066;16978419;16988840;17015472;17074758;17188240;17227835;17235284;17289999;17353931;17513609;17686864;17698840;17699158;17724463;17879944;17880809;17927446;17991745;18056640;18178565;18251703;18299329;18309324;18349538;18362892;18387192;18413764;18471982;18472157;18524770;18593893;18636124;18665919;18676680;18715924;18927073;19041633;19056676;19060904;19074885;19135534;19148187;19168699;19170196;19255499;19282307;19343496;19351886;19381065;19463775;19481066;19483681;19514060;19587033;19593445;19625176;19692168;19820697;19875445;19898928;19913121;19955184;20034877;20139978;20308427;20428767;20453000;20460378;20503275;20561923;20618440;20628086;20629644;20836993;20855536;20877624;20930068;20959805;20978950;21036904;21041309;21148306;21158936;21159883;21196599;21233848;21613222;21617256;21656147;21658363;21712378;21726118;21727192;21823019;21852253;21900206;21988832;22024133;22056880;22065578;22072546;22139419;22188816;22253918;22257632;22297299;22354970;22378505;22423221;22440942;22479585;22493436;22504646;22515821;22526391;22686245;22700719;22719244;22939629;23140172;23189150;23192964;23217248;23229512;23242420;23251661;23263863;23283967;23303126;23389372;23404709;23480852;23604079;23666239;23666240;23770605;23798675;23928699;23954442;23954445;23966164;24026423;24074954;24097825;24100034;24130482;24265320;24292274;24532468;24643683;24680709;24850748;7715729;7715730;7715731;8521816;8887627;9020082;9111042;9463381;9573342;9843949;9878060 578 Q16611 ABBA01038158;AF520590;AK091807;AK292093;AK293547;AK303422;AMYH02013493;AY260471;BC004431;BC032789;BC110337;BM855203;CB142221;CH471081;CR457419;CR627020;D88397;NM_001188;U16811;U23765;X84213;XR_241910;Z93017 AAA74466;AAA93066;AAH04431;AAI10338;AAM74949;AAO74828;ABM83453;ABM86665;BAA13606;BAF84782;BAG52419;BAG57025;BAG64474;CAA58997;CAG33700;CAI46254;EAX03740;EAX03741;EAX03742;NP_001179;Q16611 Hs.485139 1684830;5111522 D11S4366;RH64934 BAK;BAK-LIKE;BCL2L7;CDN1;MGC117255;MGC3887 BCL2-like 7 protein;OTTHUMP00000016211;apoptosis regulator BAK;bcl-2 homologous antagonist/killer;bcl-2-like protein 7;bcl2-L-7;pro-apoptotic protein BAK APPROVED protein-coding ENSG00000030110 HGNC:949 02744 600516 REVIEWED 1343125 BAK1P1 BCL2-antagonist/killer 1 pseudogene 1 6 20 20 q11.21 35094707 35096063 - 31276732 31278856 - 32688930 32691054 - 1580863 11780052;21048031;21139048;7715731 600 Q5HCI0 ABBA01019257;AMYH02036935;BX640505;NG_000850;U16812 AAA74467 1684830 RH64934 BAK2;BCL2L7P1;Bak-2;DKFZp686D0345 APPROVED pseudo HGNC:996 INFERRED 1352173 BAK1P2 BCL2-antagonist/killer 1 pseudogene 2 11 11 11 q24.3 127584325 127586436 - 130415438 130417549 - 130545543 130547654 - 7715731 601 ABBA01023044;AMYH02025791;AP004371;NG_005599;U16813 BAK3;BAK3P;BCL2L7P2 APPROVED pseudo HGNC:997 INFERRED 1346993 BAMBI BMP and activin membrane-bound inhibitor This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008] 10 10 10 p12.3-p11.2 28731284 28736727 + 28966424 28971868 + 28677495 28682939 + 737633;1580863;6480464;6484113 12477932 10942595;12107411;14660579;15164054;15240101;15340161;15489334;16189514;18756595;18838381;19326429;19328798;19758997;19998449;20189233;20513241;20634891;20886049;21496456;21890473;21900206;21963094;22187378;22406377;23551011;23807684;24448807;24752577;8125298;8621228 25805 Q13145 ABBA01034373;AI680996;AJ277487;AK223065;AK290639;AL161936;AMYH02022539;BC019252;BQ640107;BT006820;CH471072;NM_012342;U23070;U29189 AAC50435;AAH19252;AAP35466;AAR02414;BAD96785;BAF83328;CAB89152;EAW86030;EAW86031;NP_036474;Q13145 Hs.533336 1854544;2110521;2110523;2148335;2219028;5013966 BAMBI__4431;MARC_37841-37849:1070304063:1;MARC_37843-37842:1071256456:1;MARC_37843-37844:1076342064:3;WI-16558;WIAF-1707 NMA BMP and activin membrane-bound inhibitor homolog;OTTHUMP00000019384;non-metastatic gene A protein;putative transmembrane protein NMA APPROVED protein-coding ENSG00000095739 HGNC:30251 05117 604444 REVIEWED 6483484 BANCR BRAF-activated non-protein coding RNA 9 9 71911597 71921972 - 69296681 69307056 - 22581800;22673151;24655544 100885775 AA442062;AA442164;AA992895;ABBA01033807;AI394221;AI472919;AL355140;AMYH02020933;BG193679;LN608295;LN608296;N98863;NR_047671;W58600 Hs.49768 LINC00586 ncrna HGNC:43877 VALIDATED 1350560 BANF1P1 barrier to autointegration factor 1 pseudogene 1 14 14 14 q24.1 49464173 49464870 + 69403264 69403961 + 68936547 68937244 + 9740667 317687 ABBA01023683;AL117694;AMYH02029428;NG_002455;NG_029480 BCRG1;BCRP1;D14S1460;D14S1460E pseudo HGNC:20252 INFERRED 1342836 BANF1 barrier to autointegration factor 1 The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009] 11 11 11 q13.1 63093965 63096038 + 65769550 65771617 + 66002079 66004146 + 632371;1580863;6480464;8699517;7240710;8554872 9465049 10393804;10651245;10908652;10924106;11005805;11792821;11792822;12091904;12163470;12215455;12228227;12477932;12493765;12663813;14523012;14645565;15109603;15123239;15130582;15479846;15489334;15546916;15635413;15681850;15875659;16075307;16155580;16203725;16204256;16291214;16337940;16371512;16403635;16622419;16680152;16738646;17304248;17519288;17620012;18005698;18628300;19750561;19759913;20581439;21139048;21447625;21549337;21674799;21750191;21880762;21890473;21906983;21932319;21966431;22127260;22935701;22939629;23000965;23024700;23664529;23891157;24014020;24265311;24600006;24816145;7937898;9521877;9740667;9783751 8815 E9PJJ8;O75531 ABBA01024094;AF044773;AF068235;AF070447;AK311961;AMYH02024967;AP006287;BC005942;BC008705;BC107702;BG748852;BU940708;CH471076;CR542140;NG_031874;NM_001143985;NM_003860 AAC08964;AAC23575;AAD15901;AAH05942;AAI07703;BAG34901;CAG46937;EAW74483;EAW74484;EAW74485;EAW74486;NP_001137457;NP_003851;O75531 Hs.433759 1645935;1678945 G06903;RH69702 BAF;BCRP1;D14S1460;MGC111161;NGPS OTTHUMP00000234145;OTTHUMP00000234146;barrier-to-autointegration factor;breakpoint cluster region protein 1 APPROVED protein-coding ENSG00000175334 HGNC:17397 04817 603811;614008 REVIEWED 1348743 BANF1P2 barrier to autointegration factor 1 pseudogene 2 10 10 q26.3 135157764 135158505 - 133344260 133345001 - 414169 ABBA01006213;AL360181;AMYH02024092;NG_029687 BANF1L1;bA122K13.8 APPROVED pseudo HGNC:23426 INFERRED 6482636 BANF1P3 barrier to autointegration factor 1 pseudogene 3 2 2 231589467 231590194 - 230724752 230725479 - 100505506 ABBA01050113;AC084031;AMYH02005957;NG_029257 1645935;1678945 G06903;RH69702 pseudo HGNC:43883 INFERRED 6482638 BANF1P5 barrier to autointegration factor 1 pseudogene 5 7 7 q22.3 107282833 107283524 - 107642388 107643079 - 101290503 ABBA01057906;AC078937;AMYH02016516;NG_033173 pseudo HGNC:43885 INFERRED 6483733 BANF1P4 barrier to autointegration factor 1 pseudogene 4 1 1 174725608 174726350 - 174756470 174757212 - 100653423 ABBA01027877;AL161671;AMYH02002173;NG_029684 pseudo HGNC:43884 INFERRED 1317375 BANF2 barrier to autointegration factor 2 ENCODES a protein that exhibits DNA binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH copper(2+) sulfate 20 20 20 p12.1 17748830 17791025 + 17674320 17716517 + 17693675 17735872 + 6480464;8554872 11780052;12477932;15489334;16337940;18029348;20379614;7829101 140836 B1AM15;Q9H503 AA394107;ABBA01054027;ABBA01054028;AL132765;AL160071;AMYH02036768;AMYH02036769;AW022487;BC054871;BC062735;CH471133;NM_001014977;NM_001159495;NM_178477;XM_005260668 AAH54871;AAH62735;EAX10271;EAX10272;NP_001014977;NP_001152967;NP_848572;Q9H503;XP_005260725 Hs.115366 1687694 RH93138 BAF-L;BAF2;BAFL;C20orf179;MGC62093;MGC72082 OTTHUMP00000040745;OTTHUMP00000040746;OTTHUMP00000162797;barrier-to-autointegration factor 2;barrier-to-autointegration factor-like protein protein-coding ENSG00000125888 HGNC:16172 12759 VALIDATED 1342509 BANK1 B-cell scaffold protein with ankyrin repeats 1 The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 q24 100010928 100294453 + 102711764 102995969 + 101790607 102074812 + 6480464;7240710;8554872 11329013;11782428;12477932;14702039;15489334;16344560;18204447;19110536;19180476;19339986;19357697;19644876;19815934;19877059;20131273;20379614;20472928;20618440;20848568;20881011;20962850;21068098;21078628;21208380;21480188;21900951;21978998;21989138;22003931;22763476;23065315;23128233;23273568;23453885;23555801;23646104;23899688;24085759;24127308;24342660 55024 Q8NDB2 AA768944;AB063170;ABBA01063693;ABBA01063694;ABBA01063695;ABBA01063696;AC093694;AC095062;AC109928;AI864790;AK000713;AK091523;AK093024;AK292133;AK301936;AL834291;AMYH02009811;AMYH02009812;AP002075;AW574859;BC032241;BE748761;BG200452;CH471057;DA109829;DA946668;EU051376;NG_015824;NM_001083907;NM_001127507;NM_017935 AAH32241;ABM81992;ABM85173;ABW74340;BAA91337;BAB79255;BAC03685;BAF84822;BAG63356;CAD38965;EAX06127;EAX06128;NP_001077376;NP_001120979;NP_060405;Q8NDB2 Hs.480400 1335077;1652395;1653556;1690742;1718763;1752553;1753793;1773838;2135592;2149478;2157165;2168424;2186415;2218294 BANK1_4432;D4S1235;D4S290;D4S2961;D4S3204;G01532;G01787;GDB:372311;RH123071;RH92147;SHGC-106471;SHGC-108016;SHGC-50588;SHGC-51455 BANK;FLJ20706;FLJ34204 B-cell scaffold protein with ankyrin repeats;OTTHUMP00000219423;OTTHUMP00000219424;OTTHUMP00000219425;OTTHUMP00000219426 APPROVED protein-coding ENSG00000153064 HGNC:18233 09819 152700;610292 REVIEWED 1316673 BANP BTG3 associated nuclear protein This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 16 16 16 q24 72282252 72401419 + 87984231 88110924 + 87949516 88077318 + 6480464 10940556;10950932;12477932;12494467;14702039;15146197;15371550;15623522;15701641;16166625;16189514;16344560;17668048;18822384;18981184;19303885;19448619;19799771;20075864;20097305;20153010;20153327;20379614;20562859;20709157;20719862;21044950;21988832;22013068;22074660;22674979;23291589;23402259;23876508;24722188;25086032;8889549 54971 B3KM38;B4DE54;C9J811;C9JF73;C9JGM9;C9JLS0;C9JLT2;C9JTM8;C9JYB6;E9PIP2;E9PJI6;Q8N9N5;Q9NSS6 ABBA01006925;ABBA01006926;ABBA01006927;ABBA01006928;ABBA01006929;AC127455;AC134312;AK001039;AK094158;AK125232;AK293472;AK297945;AK315089;AK315535;AL157429;AMYH02032627;AMYH02032628;BC009424;BC018247;CH471114;CN289917;DA632793;NG_029918;NM_001173539;NM_001173540;NM_001173541;NM_001173542;NM_001173543;NM_017869;NM_079837;T49823;XM_005256008;XM_005256009;XM_005256010;XM_005256012;XM_006721213;XM_006721214;XM_006721215;XM_006721216;XM_006721217;XM_006721218;XM_006721219;XM_006721220;XM_006721221;XM_006721222;XM_006721223 AAH09424;ABM84102;ABM87474;BAC04296;BAG37554;BAG50850;BAG54171;BAG56965;BAG60261;CAB75653;EAW95364;EAW95365;EAW95366;EAW95367;EAW95368;EAW95369;EAW95370;NP_001167010;NP_001167011;NP_001167012;NP_001167013;NP_001167014;NP_060339;NP_524576;Q8N9N5;XP_005256065;XP_005256066;XP_005256067;XP_005256069;XP_006721276;XP_006721277;XP_006721278;XP_006721279;XP_006721280;XP_006721281;XP_006721282;XP_006721283;XP_006721284;XP_006721285;XP_006721286 Hs.461705 1738567;1764575;1766431;1780036;1780064;2131708;5122220 D16S2733;SHGC-148167;SHGC-149765;SHGC-154291;SHGC-154313;SHGC-33012;STS-T49824 BEND1;DKFZp761H172;FLJ10177;FLJ20538;SMAR1;SMARBP1 BEN domain containing 1;BEN domain-containing protein 1;OTTHUMP00000175041;OTTHUMP00000175042;OTTHUMP00000175043;OTTHUMP00000233938;btg3-associated nuclear protein;scaffold/matrix-associated region-1-binding protein APPROVED protein-coding ENSG00000172530 HGNC:13450 16538 611564 REVIEWED 1323652 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013] 3 3 3 p21.31-p21.2 52414346 52423331 - 52435020 52444121 - 52401004 52410105 - 1580863;6480464;9586039;9479061;8699517;9586037;8554872;9586038;7240710 24647359;24928783;25080371;25147369 10546591;10667217;12168954;12477932;12800201;14702039;15302935;15489334;15717329;16344560;18029348;18757409;18950845;19117993;19188440;19197335;19367581;19615732;19815555;19950226;20302916;20360068;20436459;20805357;21051595;21139048;21484256;21642991;21874000;21874003;21890473;21926972;21941004;22042019;22118674;22268848;22321046;22367297;22545102;22626734;22683710;22834783;22863556;22878500;22889334;22897849;22935333;22958294;23026932;23032617;23147254;23171164;23277170;23333114;23341325;23495950;23620406;23644518;23684012;23709298;23849051;23867514;23915344;23963927;23974872;23977234;24018818;24029645;24076305;24128712;24166983;24185509;24187051;24211834;24243779;24247622;24347639;24373783;24382589;24511587;24703950;24705312;24816145;24970262;2532544;8125298;9039502;9528852 8314 C9J7L9;F8W6N3;F8WEY5;H0Y8E8;H7C4V7;Q92560 AB002534;ABBA01024509;AC092045;AF045581;AJ011861;AK092725;AK094499;AK225494;AK292608;AK295395;AK307274;AMYH02006800;AY130008;BC001596;BX647318;CH471055;D87462;D88812;DA188433;NG_031859;NM_004656 AAC15970;AAH01596;AAN05092;ABM83471;ABM86682;BAA13401;BAB46921;BAB46926;BAF85297;BAG52602;BAG58349;EAW65220;EAW65221;NP_004647;Q92560 Hs.106674 1768736;1788698;2106959;2159579;2175969;5014055 BAP1_7253;D1S3697;D3S3829;D3S3975;RH135811;SHGC-76996 DKFZp686N04275;FLJ35406;FLJ37180;HUCEP-13;KIAA0272;TPDS;UCHL2;hucep-6 BRCA1-associated protein 1;OTTHUMP00000212891;OTTHUMP00000212984;cerebral protein 6;cerebral protein-13;cerebral protein-6;ubiquitin carboxy-terminal hydrolase;ubiquitin carboxyl-terminal hydrolase BAP1 APPROVED protein-coding ENSG00000163930 HGNC:950 04366 603089;614327 REVIEWED 733588 BARHL1 BarH-like homeobox 1 ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (inferred); sequence-specific DNA binding (inferred); INVOLVED IN midbrain development (inferred); negative regulation of neuron apoptotic process (inferred); neuron migration (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one; benzo[a]pyrene 9 9 9 q34 105999743 106007390 + 135457993 135465640 + 132582606 132590253 + 1580863;6480464;8554872 10814725;12477932;14702039;17353931;18029348;20211142;21602885 56751 Q9BZE3 ABBA01032484;AF321618;AF325688;AJ237816;AK054797;AL354735;AMYH02021812;BC136956;BC136969;BC144433;CH471090;NM_020064 AAG50279;AAI36957;AAI36970;AAI44434;AAK52674;BAB70807;CAB92439;EAW88005;NP_064448;Q9BZE3 Hs.283809 OTTHUMP00000022433;barH-like 1 homeobox protein protein-coding ENSG00000125492 HGNC:953 05554 605211 VALIDATED 1344726 BARHL2 BarH-like homeobox 2 ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (inferred); sequence-specific DNA binding (inferred); INVOLVED IN cell fate determination (inferred); neuron differentiation (inferred); neuron migration (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH arsenite(3-); copper(2+) sulfate; dimethyl sulfoxide 1 1 1 p22.2 89425682 89430897 - 91177579 91182794 - 90712022 90717237 - 1580863;6480464 10814725;12477932;15489334 343472 Q9NY43 ABBA01045575;AC092805;AJ251753;AMYH02001451;AY338397;BC126439;BC126441;CH471097;NM_020063 AAI26440;AAI26442;AAQ01189;CAB92440;EAW73123;NP_064447;Q9NY43 Hs.451956 1692958;2218300;5017929 AL034195;BARHL2_4436;Barhl2 OTTHUMP00000011704;barH-like 2 homeobox protein protein-coding HGNC:954 05555 605212 VALIDATED 736238 BARD1 BRCA1 associated RING domain 1 This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] 2 2 2 q34-q35 209361498 209442679 - 215590370 215674428 - 214725646 214809711 - 734631;1580863;2293149;2315713;2315714;2315716;2315717;2315727;2315729;2315732;2315715;632230;6480464;7240710;8554872 11156388;14550946;16152612;16333312;16685375;16768547;17028982;17333333;17972171;18443292;8944023 10026184;10362352;10477523;10635334;10764811;11257228;11278247;11301010;11498787;11504724;11526114;11573085;11773071;11777930;11779501;11799067;11807980;11925436;11927591;11943588;12154023;12183411;12419249;12431996;12438698;12477932;12485996;12549820;12611903;12700228;12732733;12781370;12890688;12951069;14560035;14636569;14638690;14647430;14976165;15159397;15184379;15218362;15265711;15342711;15383276;15489334;15569676;15632137;15665273;15782130;15815621;15855157;15886201;15905410;16061562;16344560;16391231;16403807;16489000;16672066;16825437;17185394;17218787;17275994;17283126;17399677;17497650;17525341;17525342;17550235;17556008;17664283;17678435;18089818;18243530;18480049;18481171;18493658;18676680;18842000;18936166;18950845;19064565;19064572;19117993;19124506;19164445;19170196;19176389;19197335;19261748;19261749;19322201;19369211;19412175;19482343;19536092;19584272;19615732;19625176;19690564;19692168;19714462;19766185;19789190;19796682;19887602;19916563;19959210;20060929;20077502;20215511;20301425;20351172;20379136;20379614;20451671;20453000;20681793;20842729;21087664;21103343;21124317;21335604;21344236;21393566;21532592;21693656;21742769;21809034;21815143;21890473;21901007;21950761;21965653;22328350;22350409;22544576;22652532;22883453;22941191;22990118;23056176;23086937;23222812;23416467;23585894;23966609;24009820;24085845;24289923;24507701;24695549;24948741;8125298;8889548;9342365;9425226;9738006;9788437;9798686 580 A0AVN2;C9IYG1;C9J6M1;E7EUI3;F6MDI0;F6MDI1;F6MDI2;F8WCG2;Q99728 ABBA01062783;AC016708;AF038034;AF038035;AF038036;AF038037;AF038038;AF038039;AF038040;AF038041;AF038042;AK223409;AK301843;AK310759;AK314260;AMYH02005737;AMYH02005738;AX794378;BC126426;BC126428;BU677525;BU753556;BX098964;CH471063;DB088853;JF790280;JF790281;JF790282;JF790283;JF790284;JF790285;JF790286;JF790287;NG_012047;NM_000465;NM_001282543;NM_001282545;NM_001282548;NM_001282549;NR_104212;NR_104215;NR_104216;U76638 AAB38316;AAB99978;AAI26427;AAI26429;AAX93130;AEF57471;AEF57472;AEF57473;AEF57474;AEF57475;AEF57476;AEF57477;AEF57478;BAD97129;BAG36925;BAG63286;CAE48237;EAW70519;NP_000456;NP_001269472;NP_001269474;NP_001269477;NP_001269478;Q99728 Hs.591642;Hs.597413 1753921;1771331;2151634;2218298 BARD1_4434;RH66789;SHGC-108134;SHGC-56861 BARD-1 BRCA1 associated RING domain 1 isoform alfa;BRCA1 associated RING domain 1 isoform beta;BRCA1 associated RING domain 1 isoform delta;BRCA1 associated RING domain 1 isoform epsilon;BRCA1 associated RING domain 1 isoform eta;BRCA1 associated RING domain 1 isoform gamma;BRCA1 associated RING domain 1 isoform phi;BRCA1-associated RING domain gene 1;BRCA1-associated RING domain protein 1;OTTHUMP00000163973 APPROVED protein-coding ENSG00000138376 HGNC:952 03354 114480;601593 REVIEWED 1322041 BARX1 BARX homeobox 1 This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008] 9 9 9 q12 67155476 67159081 - 96713909 96717608 - 93951627 93955326 - 1580863;6480464 10995576;12477932;17486624;18708738;18978678;20634891;21900206;21988832;23314748;24121790 56033 Q9HBU1 ABBA01017680;ABBA01017681;AF213356;AL357073;AMYH02021248;BC009458;BC064363;CH471089;NM_021570 AAG23738;AAH09458;AAH64363;ADZ15659;EAW62873;NP_067545;Q9HBU1 Hs.164960 1797312 BARX1_2258 BarH-like homeobox 1;OTTHUMP00000021686;OTTHUMP00000197307;homeobox protein BarH-like 1 APPROVED protein-coding ENSG00000131668 HGNC:955 16017 603260 REVIEWED 1350102 BARX2 BARX homeobox 2 This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008] 11 11 11 q25 126414612 126490903 + 129245879 129322174 + 129375986 129452279 + 1580863;6480464 10644443;10854790;11278942;12477932;14702039;14744868;20634891;21890473;22238593;22383897;9122247 8538 Q9UMQ3 ABBA01023020;AF031924;AF171222;AJ243512;AK022187;AMYH02025775;AP003775;BC069378;BC111432;BC111572;CH471065;NM_003658 AAC04705;AAF09453;AAH69378;AAI11433;AAI11573;CAB50736;EAW67743;NP_003649;Q9UMQ3 Hs.591944 1760115;2218302 BARX2_2111;SHGC-108027 MGC133368;MGC133369 BarH-like homeobox 2;OTTHUMP00000230949;OTTHUMP00000244646;homeobox protein BarH-like 2 APPROVED protein-coding ENSG00000043039 HGNC:956 16074 604823 REVIEWED 8661345 BARX1-AS1 BARX1 antisense RNA 1 (head to head) 9 9 96718116 96720204 + 93955834 93957922 + 101928040 ABBA01017680;AL357073;AMYH02021249;XR_242647;XR_250505;XR_252615 ncrna ENSG00000235601 HGNC:50673 MODEL 1347703 BASP1 brain abundant, membrane attached signal protein 1 This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012] 5 5 5 p15.1 17243172 17302814 + 17216932 17276954 + 17216823 17276845 + 1580863;6480464;8554872 10965107;12477932;14701728;15146197;15489334;16344560;17081983;17500595;18268500;18781797;18850735;18949357;19013454;19050011;19056867;19190083;19322201;19376485;19956849;21139048;21269271;21963094;21987572;22304920;22810585;22863883;22939629;22939983;23092984;23275563;23398456;23898208;24250222;24255178;24350992;8889548;9310187;9749536 10409 P80723;U3KQP0 ABBA01020690;ABBA01020691;ABBA01020692;AC026785;AC091878;AF039656;AK295995;AK314152;AMYH02010944;AMYH02010945;BC000518;BG704783;BM888431;BM973114;BT019340;BT019341;BU181147;CH471102;CN355202;CS300636;DA489123;DW458407;HY258599;NM_001271606;NM_006317 AAC67374;AAH00518;AAV38147;AAV38148;ABM85492;ABW03753;BAG58770;CAK32300;EAX08012;EAX08013;NP_001258535;NP_006308;P80723 Hs.201641;Hs.646924 1683245;1700120;1751793;1751847;1779149 G35277;RH103673;RH80044;SHGC-105828;SHGC-105831 CAP-23;CAP23;MGC8555;NAP-22;NAP22 22 kDa neuronal tissue-enriched acidic protein;OTTHUMP00000161694;brain acid soluble protein 1;brain acid-soluble protein 1;neuronal axonal membrane protein NAP-22;neuronal tissue-enriched acidic protein APPROVED protein-coding ENSG00000176788 HGNC:957 08389 605940 REVIEWED 4889636 BASP1P1 brain abundant, membrane attached signal protein 1 pseudogene 1 13 13 13 q12.12 4533499 4534650 - 23471169 23472320 - 22897030 22898181 - 19376485 646201 ABBA01068628;AI624948;AL157931;AMYH02027685;NR_033774 Hs.729338 pseudo HGNC:39418 PROVISIONAL 1602989 BATF2 basic leucine zipper transcription factor, ATF-like 2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN defense response to protozoan (ortholog); myeloid dendritic cell differentiation (ortholog); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; pirinixic acid 11 11 11 q13.1 62081362 62090462 - 64755417 64765060 - 64987945 64997045 - 6480464 12477932;14702039;16189514;16713569;19060904;19074269;20473897;20531301;21867603;21892628;21988832;23049725;23661758;24133583;24252932;24282278 116071 B4DV37;E9PJ73;Q8N1L9 ABBA01024138;AK092453;AK096702;AK300917;AMYH02024949;AP000436;BC011931;BC012330;BP206576;CH471076;HM134154;NM_001300807;NM_001300808;NM_138456;XM_005273739 AAH12330;ADJ55304;BAC03894;BAC04846;BAG62549;EAW74330;EAW74331;NP_001287736;NP_001287737;NP_612465;Q8N1L9;XP_005273796 Hs.124840 1737985;1768945;2109509 D11S3587;L18080;MGC20410__7686 MGC20410;SARI B-ATF-2;OTTHUMP00000230540;OTTHUMP00000230788;basic leucine zipper transcriptional factor ATF-like 2;suppressor of AP-1 regulated by IFN protein-coding ENSG00000168062 HGNC:25163 14470 614983 VALIDATED 1312643 BATF basic leucine zipper transcription factor, ATF-like The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 56026856 56051425 + 75988784 76013335 + 75522441 75546992 + 1580863;6480464 10777209;12477932;12508121;12594265;12719594;12809553;15342556;15489334;16189514;18330356;20211142;20453842;20890291;21833088;23455924;23661758;24216482;24290279;8570175;8630063;8954125;9745044 10538 G3V266;Q16520 ABBA01030697;AC007182;AF016898;AMYH02029541;BC032294;BP235761;CH471061;D42106;NM_006399;U15460 AAC50314;AAC78243;AAD51372;AAH32294;BAA07686;EAW81234;NP_006390;Q16520 Hs.509964 1682928;2136526;2139591;2167945 G35460;G35803;RH98930;STS-U15460 B-ATF;BATF1;SFA-2;SFA2 B-cell-activating transcription factor;OTTHUMP00000246169;SF-HT-activated gene 2 protein;activating transcription factor B;basic leucine zipper transcriptional factor ATF-like APPROVED protein-coding ENSG00000156127 HGNC:958 09820 612476 REVIEWED 1602111 BATF3 basic leucine zipper transcription factor, ATF-like 3 This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[provided by RefSeq, Feb 2009] 1 1 1 q32.3 186085819 186099376 - 212859759 212873327 - 212686417 212699985 - 6480464 10878360;11329013;12087103;12101239;12477932;12650714;12805554;14702039;15467742;23661758 55509 Q9NR55 ABBA01048166;AF255346;AK093671;AK094854;AL591647;AMYH02002646;BC117489;BC117491;BG184570;CH471100;NM_018664 AAF73966;AAI17490;AAI17492;ADR82815;EAW93381;NP_061134;Q9NR55 Hs.62919 2107639 SNFT__6873 FLJ36352;FLJ37535;JDP1;JUNDM1;SNFT 21 kDa small nuclear factor isolated from T-cells;21-kD small nuclear factor isolated from T cells;B-ATF-3;Jun dimerization protein 1;Jun dimerization protein p21SNFT;OTTHUMP00000034931;basic leucine zipper transcriptional factor ATF-like 3 APPROVED protein-coding ENSG00000123685 HGNC:28915 18081 612470 REVIEWED 70373 BAX BCL2-associated X protein The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.3-q13.4 46325480 46332409 + 49458117 49465055 + 48954860 48961798 + 734633;734634;734632;1300048;1579984;1579966;1643353;1643354;1643355;2293026;2293073;1643352;1643356;2292907;2313963;2314021;2311240;2314140;2290557;2296025;2313998;2296023;2313975;2291908;6480464;6484113;6907045;7248687;7248688;7240710;8699517;8554872 12234300;15632274;17288732;17322918;17390059;17454944;17575222;17626754;17639989;17694953;18083315;18221257;18317887;18444130;18452128;18817839;18931364;18959742;18991018;19820199;22419868;22614867;7569956;9020077;9531611 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581 H0YA56;I6LPK7;Q07812;Q5ZPJ0;Q5ZPJ1 ABBA01032954;ABBA01032955;AC026803;AC245081;AF007826;AF008195;AF008196;AF020360;AF247393;AF250190;AF339054;AI565203;AJ417988;AJ586909;AJ586910;AK291076;AY217036;BC014175;BE396495;BM673184;BM706954;CH471177;CN281003;HQ889830;JX524562;KF830846;KF830847;KF830848;L22473;L22474;L22475;NG_012191;NM_001291428;NM_001291429;NM_001291430;NM_001291431;NM_004324;NM_138761;NM_138763;NM_138764;NR_027882;T29044;U19599;XM_006723313;XM_006723314 AAA03619;AAA03620;AAA03621;AAC50142;AAD01415;AAD01416;AAD22706;AAF71267;AAF82094;AAH14175;AAL73333;AAO22992;ADZ05507;AFU81108;AIO10778;AIO10779;AIO10780;BAF83765;CAD10744;CAE52909;CAE52910;EAW52415;EAW52416;EAW52417;EAW52418;EAW52419;EAW52420;EAW52421;NP_001278357;NP_001278358;NP_001278359;NP_001278360;NP_004315;NP_620116;NP_620118;NP_620119;Q07812;XP_006723376;XP_006723377 Hs.624291 1783834;1788050;1788052;1793556;1793758;2133175;2190753;5117971 G67254;G67255;GDB:632822;PMC230316P5;PMC27116P1;RH47233;SHGC-156277;UniSTS:265693 BCL2L4 BCL2-associated X protein omega;BCL2-associated X protein transcript variant delta2;Baxdelta2G9;Baxdelta2G9omega;Baxdelta2omega;OTTHUMP00000218291;OTTHUMP00000218292;OTTHUMP00000218293;OTTHUMP00000218294;OTTHUMP00000218295;OTTHUMP00000218296;apoptosis regulator BAX;bcl-2-like protein 4;bcl2-L-4 APPROVED protein-coding ENSG00000087088 HGNC:959 02498 114500;600040 REVIEWED 1314248 BAZ1B bromodomain adjacent to zinc finger domain, 1B This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68332639 68414529 - 72854728 72936628 - 73440398 73522298 - 1580863;6480464;8554872;9495920;8661242 21358755;24002223 10662543;11124022;11980720;12477932;12853948;14702039;15302935;15543136;15635413;16252006;16344560;16514417;16565220;16603771;17081983;17250953;18162579;18781797;19060906;19060911;19092802;19394292;19454010;19471022;19596686;19656773;19913121;20139978;20195357;20580033;20628086;20657596;20802025;20864672;21139048;21252943;21326359;21490707;21890473;21906983;21907836;22178446;22412018;22505724;22586326;22751105;22939629;23000965;23085504;23263486;23319141;23505323;23752268;24457600;24816145;9828126;9847074;9858827 9031 Q9UIG0 AB032253;ABBA01063952;ABBA01063953;ABBA01063954;ABBA01063955;ABBA01063956;ABBA01063957;AC005074;AC005089;AF072810;AF084479;AK123274;AMYH02016021;AMYH02016022;AMYH02016023;BC041561;BC050599;BC065029;BC080544;BC136520;BU632531;CH471200;DA739467;NG_027679;NM_032408;XM_005250683 AAC97879;AAD04720;AAD08675;AAH65029;AAI36521;AAP22332;BAA89210;EAW69679;EAW69680;EAW69681;NP_115784;Q9UIG0;XP_005250740 Hs.743372 1651477;1654361;1663287;1665161;1790431;1790433;1790449;1790451;1854075;2123687;2124774;2125528;2135598;2149723;2157371;2174063;2217062;5113960 BAZ1B_3920;D7S2024;D7S3288;D7S3289;D7S3300;D7S3301;G20570;GDB:1317340;GDB:1317820;GDB:1317822;GDB:1318100;GDB:1318116;GDB:1318124;GDB:1318352;GDB:4585423;GDB:4585619;RH17036;RH65972 WBSCR10;WBSCR9;WSTF;hWALp2 OTTHUMP00000160320;OTTHUMP00000197535;Williams-Beuren syndrome chromosome region 10;Williams-Beuren syndrome chromosome region 9;bromodomain adjacent to zinc finger domain protein 1B;transcription factor WSTF;tyrosine-protein kinase BAZ1B;williams syndrome transcription factor;williams-Beuren syndrome chromosomal region 10 protein;williams-Beuren syndrome chromosomal region 9 protein APPROVED protein-coding ENSG00000009954 HGNC:961 10416 605681 REVIEWED 1314679 BAZ1A bromodomain adjacent to zinc finger domain, 1A The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010] 14 14 14 q13.2 15086104 15209015 - 35221937 35344853 - 34752731 34875647 - 1580863;6480464;9495920 21358755 10655480;10662543;10747848;10880450;11980720;12198550;12374985;12434153;12477932;14702039;14759371;15231748;15780937;16877760;17081983;17500595;17519354;19322201;19394292;19450608;19460752;19471022;19596686;20033039;20379614;21139048;21172662;21252943;21549307;21693764;21738833;21745822;21890473;22242598;22505724;22939629;22952844;24816145 11177 H0YJ68;H0YJ74;H0YJP5;Q9NRL2 AB032252;AB209255;ABBA01061484;ABBA01061485;ABBA01061486;AF086397;AF161435;AF213467;AF221130;AK027289;AL050089;AL121603;AL355885;AMYH02028993;AMYH02028994;AMYH02028995;AMYH02028996;AMYH02028997;AMYH02028998;AMYH02028999;BC020636;BC108711;CB217757;CH471078;HI574156;HI574158;NM_013448;NM_182648 AAF28995;AAF32366;AAF70601;AAH20636;AAI08712;AAI56492;BAA89209;BAD92492;BAG51300;CAB43261;CBX47567;CBX47568;EAW65900;EAW65901;EAW65902;EAW65903;EAW65904;EAW65905;NP_038476;NP_872589;Q9NRL2 Hs.509140 1678347;1700960;1776065;1849784;2164311 G35901;G36258;RH104107;RH44609;RH98236 ACF1;DKFZp586E0518;FLJ14383;WALp1;WCRF180;hACF1;hWALp1 ATP-dependent chromatin remodeling protein;ATP-dependent chromatin-remodeling protein;ATP-utilizing chromatin assembly and remodeling factor 1;CHRAC subunit ACF1;OTTHUMP00000178813;OTTHUMP00000244406;bromodomain adjacent to zinc finger domain protein 1A;williams syndrome transcription factor-related chromatin-remodeling factor 180 APPROVED protein-coding ENSG00000198604 HGNC:960 605680 VALIDATED 1312828 BAZ2A bromodomain adjacent to zinc finger domain, 2A ENCODES a protein that exhibits lysine-acetylated histone binding (ortholog); RNA binding (ortholog); INVOLVED IN chromatin silencing at rDNA (ortholog); DNA methylation (ortholog); histone deacetylation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN chromatin silencing complex (ortholog); nucleolus (ortholog); rDNA heterochromatin (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; calcitriol 12 12 12 q13.3 56642037 56681875 - 56989380 57030600 - 56595596 56636816 - 1580863;6480464;8554872 10662543;11532953;12198165;12477932;14702039;15292447;15302935;15489334;16085498;17081983;17474147;17672918;19471022;19578370;21139048;21252943;21890473;21906983;22139419;22586326;23333304;24457600;9205841 11176 F8VU39;F8VWQ3;F8W053;H0YHL2;H0YHQ7;H0YII3;J3KPG5;J3QK86;Q9UIF9 AB002312;ABBA01008429;ABBA01008430;ABBA01008431;ABBA01008432;AC090681;AF000422;AK023830;AK023842;AK127775;AK303327;AMYH02026571;BC008965;BC065914;CD686304;CH471054;CR749379;DB215236;NM_001300905;NM_013449;XM_005268596;XM_005268597;XM_005268599;XM_005268600;XM_005268602;XM_005268603;XM_005268604;XM_006719207;XM_006719208 AAB60864;AAH08965;AAI52740;BAA20773;BAG51228;BAH13943;CAH18232;EAW96949;EAW96950;EAW96951;NP_001287834;NP_038477;Q9UIF9;XP_005268653;XP_005268654;XP_005268656;XP_005268657;XP_005268659;XP_005268660;XP_005268661;XP_006719270;XP_006719271 Hs.314263 1661902;1745965;1751887;1778120;2117100;2122595;2144982;2166125;2187670;2217064 A008S22;BAZ2A_3784;M27132;RH124269;RH69868;RH78335;SHGC-105788;STS-N33267;T15358;WI-12396 DKFZp781B109;FLJ13768;FLJ13780;FLJ45876;KIAA0314;TIP5;WALp3;hWALp3 OTTHUMP00000243520;OTTHUMP00000243521;OTTHUMP00000243523;TTF-I interacting peptide 5;TTF-I-interacting protein 5;bromodomain adjacent to zinc finger domain protein 2A;transcription termination factor I-interacting protein 5 protein-coding ENSG00000076108 HGNC:962 10417 605682 VALIDATED 1320334 BAZ2B bromodomain adjacent to zinc finger domain, 2B ENCODES a protein that exhibits DNA binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene 2 2 2 q24.2 153787429 154084921 - 160175490 160473059 - 159693192 159712439 - 1580863;6480464;8554872 10662543;10819331;12477932;14702039;15489334;16189514;17081983;17370265;18482256;18976975;19322201;20802025;21738491;23667531 29994 C9JCA6;F6VJC3;H7BXK5;H7C092;H7C1I6;Q9UIF8 AB032255;AB040909;ABBA01004862;ABBA01004863;ABBA01004864;AC008277;AC009506;AC009961;AK000386;AK023566;AK027612;AK074895;AK127551;AK307683;AL080173;AL834381;AMYH02005071;AMYH02005072;AMYH02005073;AMYH02005074;BC012576;BC068527;BC107570;BX537650;BX641037;BX647250;CH471058;HG494787;NM_001289975;NM_013450;NR_110586;XM_005246488;XM_005246489;XM_005246492;XM_005246497;XM_005246500;XM_006712461;XM_006712462;XM_006712463;XM_006712464;XM_006712465;XM_006712466;XM_006712467;XM_006712468;XM_006712469;XM_006712470;XM_006712471;XM_006712472;XM_006712473;XM_006712474;XR_425476;XR_427178;XR_431488 AAH12576;AAI07571;AAI56488;AAY24281;BAA89212;BAA96000;BAB55231;BAC11274;CAB45759;CAD39044;CAE46023;EAX11403;EAX11404;EAX11405;EAX11406;EAX11407;NP_001276904;NP_038478;Q9UIF8;XP_005246545;XP_005246546;XP_005246549;XP_005246554;XP_005246557;XP_006712524;XP_006712525;XP_006712526;XP_006712527;XP_006712528;XP_006712529;XP_006712530;XP_006712531;XP_006712532;XP_006712533;XP_006712534;XP_006712535;XP_006712536;XP_006712537 Hs.470369;Hs.731786 1648553;1669810;1681306;1683192;1699516;1706146;1709686;1710802;1717739;1734248;1769338;1771611;1848027;2171069;5014051;5015619;5016478;5017773;5021872;5022463;5022578;5022651;5037552;5126961 165XA1;BAZ2B;D11S2921;D11S3114;D1S1423;D2S1307;D2S1500E;D2S1967;D2S2117;D2S2829;D3S1673;D8S2278;D8S2279;GDB:434012;RH103352;RH121777;RH65361;RH92799;RH98458;SHGC-80116;SHGC-84142;SHGC-86329;WI-20141;sY3084 AC009961.3;DKFZp434H071;DKFZp762I0516;FLJ45644;WALp4;hWALp4 OTTHUMP00000162897;OTTHUMP00000162898;bromodomain adjacent to zinc finger domain protein 2B protein-coding ENSG00000123636;ENSG00000226266 HGNC:963 09295 605683 VALIDATED 735389 BBC3 BCL2 binding component 3 This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 19 19 19 q13.3-q13.4 44527934 44539878 - 47724079 47736023 - 47220822 47232853 - 1580863;2314029;2313994;6480464;6907045;634629 12913114;19095966;19641503 11463391;11463392;11572983;12477932;12574499;12963126;14550297;14585351;14634023;14702039;14993250;15143349;15174051;15547745;15574335;15595728;15694340;15721256;15731037;15731089;15905879;16007132;16091745;16151013;16462759;16608847;16697956;16983338;17011204;17024184;17267315;17289999;17360476;17368424;17388661;17393317;17616685;17698840;17934815;17996028;18215742;18324703;18354037;18367875;18573879;18579560;18811981;18835564;18941118;19028473;19050264;19064725;19380879;19421143;19439449;19444283;19587239;19638343;19641508;19652530;19660860;19679565;19737931;19815839;19851330;19966853;20075864;20206402;20413175;20418652;20419447;20421300;20430872;20478995;20723285;20813046;20978166;21042732;21044367;21048031;21120639;21151175;21153863;21159778;21364604;21364664;21486225;21490394;21613222;21633093;21699775;21730980;21863213;21868573;21887277;21997190;22021910;22086558;22130069;22159712;22174832;22178394;22283740;22286758;22359675;22394200;22446329;22714709;22763818;22773666;22997714;23001513;23220852;23243310;23321162;23340338;23475628;23517560;23532334;23873935;23916609;24127039;24236056;24265320;24452416;24830722 27113 Q96PG8;Q9BXH1 AA887822;ABBA01041015;ABBA01041016;ABBA01041017;ABBA01041018;AC008532;AF332558;AF354654;AF354655;AF354656;AK124984;AK298837;AMYH02036250;AMYH02036251;AMYH02036252;AMYH02036253;BC136481;BG258126;CH471126;NG_031991;NM_001127240;NM_001127241;NM_001127242;NM_014417;U82987;XM_005258740;XM_006723141 AAB51243;AAI36482;AAK31316;AAK39542;AAK39543;AAK39544;BAG60965;EAW57465;EAW57466;EAW57467;NP_001120712;NP_001120713;NP_001120714;NP_055232;Q96PG8;Q9BXH1;XP_005258797;XP_006723204 Hs.467020 1769759;2218736 BBC3_3813;RH70710 FLJ42994;JFY-1;JFY1;PUMA bcl-2-binding component 3;p53 up-regulated modulator of apoptosis APPROVED protein-coding ENSG00000105327 HGNC:17868 16165 605854 REVIEWED 2300355 BBIP1 BBSome interacting protein 1 BBIP10 functions in ciliogenesis and stabilization of cytoplasmic microtubules (Loktev et al., 2008 [PubMed 19081074]).[supplied by OMIM, Nov 2010] 10 10 10 q25.2 106390095 106410721 - 112658488 112679124 - 110898730 110919366 - 6480464;8554872 12477932;14702039;15164054;15489334;19081074;19549489;20301537;20603001;24026985 92482 A8MTZ0;E9PIK7 ABBA01063020;AK021501;AK025724;AK307126;AK307314;AL158163;AMYH02023801;BC015550;BC062778;BC073157;BC104248;BC104249;BC105804;BC113000;BC113001;BI552279;DB450918;NM_001195304;NM_001195305;NM_001195306;NM_001195307;NM_001243783 A8MTZ0;NP_001182233;NP_001182234;NP_001182235;NP_001182236;NP_001230712 Hs.232543;Hs.651480 1664595;1670371;1673808;1717557;1739127;1754713;1796486;1851165;2140131;2146685;5015961 D10S1524;D15S1477;PDCD4_1402;RH122083;RH44657;RH45457;RH68025;SHGC-133074;SHGC-35716;SHGC-64020;STS-AA001983 BBIP10;BBS18;NCRNA00081;bA348N5.3 BBSome-interacting protein 1;BBSome-interacting protein of 10 kDa;OTTHUMP00000231465;OTTHUMP00000231467;OTTHUMP00000231468;UPF0604 protein;non-protein coding RNA 81 APPROVED protein-coding ENSG00000214413 HGNC:28093 613605 VALIDATED 8698737 BBOX1-AS1 BBOX1 antisense RNA 1 p14.2 16344560 103695435 AC015756;AC016450;DA376689;DA865512;DB016334;KF455343;NR_125766;NR_125767;NR_125768 Hs.196133;Hs.628833 ncrna HGNC:50700 VALIDATED 732171 BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008] 11 11 11 p14.2 27207166 27294016 + 27062252 27149354 + 27040705 27127807 + 1580863;1300048;6480464;6907045 10526231;12477932;15489334;16169070;16344560;17110165;1735445;18029348;19056867;19240061;1962562;20379614;20599753;20877624;3110383;3378057;6497835;7156861;9753662 8424 E9PKC9;O75936 ABBA01060975;ABBA01060976;AC015756;AC016450;AF082868;AK290108;AK313422;AMYH02024498;BC011034;CH471064;CR456812;DA268467;DQ471856;DQ471857;DQ471858;DQ471859;DQ471860;DQ471861;DQ471862;DQ471863;DQ471864;DQ471865;DQ471866;DQ471867;DQ471868;DQ471870;KF455343;NM_003986;XM_005253159;XM_005253160;XM_005253161;XM_005253163;XM_006718344 AAC64066;AAH11034;ABF17859;ABF17860;ABF17861;ABF17862;ABF17863;ABF17864;ABF17865;ABF17866;ABF17867;ABF17868;ABF17869;ABF17870;ABF17871;ABM83703;ABM87023;ACE87221;BAF82797;BAG36214;CAG33093;EAW68290;EAW68291;NP_003977;O75936;XP_005253216;XP_005253217;XP_005253218;XP_005253220;XP_006718407 Hs.591996 1683964;1698930;1737057;1739895;1750767;2139404;2144695;5092818 A006G34;D11S2804;D11S4058;G32349;RH103034;RH79794;SHGC-102216;WI-18141 BBH;BBOX;G-BBH;gamma-BBH OTTHUMP00000231947;OTTHUMP00000231949;OTTHUMP00000231950;gamma-butyrobetaine dioxygenase;gamma-butyrobetaine hydroxylase;gamma-butyrobetaine,2-oxoglutarate dioxygenase 1 APPROVED protein-coding ENSG00000129151 HGNC:964 04498 603312 REVIEWED 1316858 BBS1 Bardet-Biedl syndrome 1 Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008] 11 11 11 q13 63598354 63621361 + 66278077 66301084 + 66510648 66533613 + 1579968;1579969;1601314;6480464;7240710;8554872;8699517 12524598;12677556;14993910 10577921;10577922;11096143;12118255;12477932;12567324;12837689;14702039;15314642;15489334;15517396;16327777;17065520;17574030;17980398;18000879;18669544;18766993;19077438;19150989;19615732;20301537;20301743;20801516;21097510;21520335;21906983;21926972;22410627;22940089;23143442;23559858;24500717;24691443;9039982 582 B4DYY3;E7EQH1;E9PJ28;E9PMB7;E9PPR3;E9PQD9;E9PQK2;E9PR55;Q8NFJ9 ABBA01024074;AF503941;AK027243;AK095638;AK294962;AK296311;AK302657;AMYH02024979;AP002748;BC047642;BC109064;BC109065;BX647612;CH471076;NG_009093;NM_024649 AAH47642;AAI09065;AAI09066;AAM92770;BAB15704;BAG58036;BAG59009;BAG63895;CAI46060;EAW74542;NP_078925;Q8NFJ9 Hs.502915 1698738;2116648 RH102931;SHGC-30733 BBS2L2;FLJ23590;MGC126183;MGC126184;MGC51114 BBS2-like protein 2;Bardet-Biedl syndrome 1 protein;OTTHUMP00000235218;OTTHUMP00000235220;OTTHUMP00000235221;OTTHUMP00000236623 APPROVED protein-coding ENSG00000174483;ENSG00000256349 HGNC:966 01950 209900;209901 REVIEWED 1605944 BBS10 Bardet-Biedl syndrome 10 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010] 12 12 12 q21.2 76404216 76408172 - 76738266 76742222 - 76344486 76348906 - 6480464;7240710;8554872;8699517 12477932;14702039;15489334;16344560;16582908;16823392;17101080;17106446;17160889;17980398;19190184;20193073;20301537;20301743;20472660;20801516;20805367;20827784;21900206;21906983;22053931;23000965;23219996;23403234;8125298 79738 Q8TAM1 ABBA01053548;AC117491;AI673014;AK027213;AK225585;AK304178;AMYH02026784;BC013795;BC026355;CH471054;DA095453;DR155669;GN088052;GN088054;NG_016357;NM_024685;XM_006719603 AAH13795;AAH26355;ADZ15961;BAB15695;BAH14128;CAX86889;CAX86890;EAW97322;EAW97323;NP_078961;Q8TAM1;XP_006719666 Hs.96322 1699188;2177157;2182723 G31485;RH103174;SGC44443 C12orf58;FLJ23560 Bardet-Biedl syndrome 10 protein;OTTHUMP00000190861 APPROVED protein-coding ENSG00000179941 HGNC:26291 08036 209900;610148 REVIEWED 1603548 BBS12 Bardet-Biedl syndrome 12 The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] 4 4 4 q27 121036879 121049116 + 123653857 123666098 + 122732702 122744943 + 6480464;7240710;8554872;8699517 12477932;14702039;17160889;19190184;20193073;20301537;20301743;20472660;20827784;22958920 166379 C9J8H7;Q6ZW61 ABBA01044741;AC053545;AK092949;AK123553;AMYH02010020;BC055426;BC065708;BX538148;CD359068;CH471056;NG_021203;NM_001178007;NM_152618 AAH55426;BAC04006;BAC85644;CAD98035;EAX05223;EAX05224;NP_001171478;NP_689831;Q6ZW61 Hs.400698 1697562;1777102;2119802 D4S2648;RH102291;SHGC-67243 C4orf24;FLJ35630;FLJ41559 Bardet-Biedl syndrome 12 protein;OTTHUMP00000164085;OTTHUMP00000196371 APPROVED protein-coding ENSG00000181004 HGNC:26648 08759 209900;610683 REVIEWED 732435 BBS2 Bardet-Biedl syndrome 2 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with six other BBS proteins.[provided by RefSeq, Jan 2009] 16 16 16 q21 41016278 41052025 - 56504301 56554008 - 56470389 56520096 - 70665;734635;1601311;1579971;1580863;6480464;7240710;8554872;8699517 11285252;15107855;17003356;8298649 11096143;11567139;12477932;12567324;12677556;12837689;12872256;14702039;15489334;16189514;16327777;16344560;17574030;18000879;18299575;19077438;19150989;19666486;19913121;20301537;20301743;20618352;20628086;20801516;21890473;21906983;21963094;22505724;22797925;23000965;24250222;24500717;8889548 583 H3BNS7;H3BQ79;H3BRL0;J3QKP7;J3QLW0;Q9BXC9 AB208905;ABBA01025246;AC009155;AC026461;AC092140;AF342736;AK027635;AK127290;AK289604;AK309068;AL834176;AMYH02032088;BC014140;BM982214;CH471092;DA437930;DB316257;NG_009312;NM_031885;XM_005256080;XM_005256081;XM_005256082 AAH14140;AAK28552;ABM83606;ABM86849;BAB55252;BAD92142;BAF82293;CAD38873;EAW82863;EAW82864;NP_114091;Q9BXC9;XP_005256137;XP_005256138;XP_005256139 Hs.333738 1644493;1771635;2109079;5022200;5022450;5022578;5037552 A004I06;BBS2_8224;D10S275;D1S1423;D8S2279;L18426;STS-N93740 BBS;MGC20703 Bardet-Biedl syndrome 2 protein;bardet-biedl syndrome 2 (human) APPROVED protein-coding ENSG00000125124 HGNC:967 05855 209900;606151 REVIEWED 1319306 BBS4 Bardet-Biedl syndrome 4 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009] 15 15 15 q22.3-q23 49857583 49909622 + 72978520 73030817 + 72686179 72738476 + 1579971;1601311;6480464;7240710;8554872;8699517 15107855;17003356 11381270;12016587;12365916;12477932;12872256;14520415;14702039;15489334;15497446;17574030;18000879;18029348;18299575;19077438;20301537;20301743;20379614;20508983;20801516;21145461;21906983;22219648;23554981;23716571;24691443;7711739;8889548;9126487 585 H3BN76;H3BPP7;H3BQV7;H3BRY9;H3BSE2;H3BSL2;H3BU58;H3BUQ7;H3BUU1;H3BV56;Q96RK4 ABBA01038721;ABBA01038722;ABBA01038723;ABBA01038724;AC009712;AF359281;AK075321;AK298922;AK302224;AK303706;AK310106;AK314507;AMYH02030762;AMYH02030763;AMYH02030764;AMYH02030765;AY457143;BC008923;BC027624;BI562463;BM664845;BX647855;CH471082;DC320069;DC372967;KF456097;NG_009416;NM_001252678;NM_033028;NR_045565;NR_045566;XM_006720623;XM_006720624;XM_006720625 AAH08923;AAH27624;AAK58868;AAS13441;ABM82445;ABM85635;BAC11547;BAG37107;BAG61027;BAG64690;BAH13654;EAW77912;EAW77913;NP_001239607;NP_149017;Q96RK4;XP_006720686;XP_006720687;XP_006720688 Hs.208681 1672642;1700188 D15S1270;RH103709 Bardet-Biedl syndrome 4 protein;OTTHUMP00000164777 APPROVED protein-coding ENSG00000140463 HGNC:969 08982 209900;600374 REVIEWED 1321789 BBS5 Bardet-Biedl syndrome 5 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 163955114 163982098 + 170335967 170363165 + 169479496 169506655 + 1579974;1580863;6480464;7240710;8554872;8699517 15137946 10053027;11076863;11230166;11256614;12477932;14702039;15342556;15489334;15489336;15815621;16327777;16381901;17574030;18203199;19077438;20301537;20301743;20801516;8889549;9888993 129880 E9PBE3;F8WBR7;Q8N3I7 AA043704;ABBA01014888;ABBA01014889;ABBA01014890;AC093899;AK097935;AK312680;AL834305;AMYH02005185;AY604003;AY604004;BC044593;BP311042;CA336791;CD245392;CH471058;CS300753;H09195;NG_011567;NM_152384 AAH44593;AAT08182;AAT08183;AAY24116;CAD38975;CAK32417;CAL38098;EAX11276;EAX11277;EAX11278;EAX11279;NP_689597;Q8N3I7 Hs.233398 1653712;5020274 D2S1854;L18441 Bardet-Biedl syndrome 5 protein;OTTHUMP00000163062;OTTHUMP00000204766;OTTHUMP00000221822 APPROVED protein-coding ENSG00000163093 HGNC:970 10353 209900;603650 REVIEWED 1603660 BBS9 Bardet-Biedl syndrome 9 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 7 7 7 p14 33150951 33627167 + 33169144 33645680 + 33129244 33606068 + 6480464;7240710;8699517;8554872 10221542;12477932;12618763;12690205;14702039;15489334;16380913;17574030;18029348;18349106;20161521;20301537;20301743;20379614;20801516;22479622;23160099;24250222 27241 C9JJ08;C9JRR5;F8WCG5;H7BZ69;Q3SYG4 AACC02000103;ABBA01056862;ABBA01056863;ABBA01056864;ABBA01056865;ABBA01056866;ABBA01056867;ABBA01056868;ABBA01056869;ABBA01056870;ABBA01056871;ABBA01056872;AC006195;AC007312;AC074338;AC078833;AC087070;AF095769;AF095770;AF095771;AK057660;AK091361;AK297436;AK314627;AL704922;AMYH02015493;AMYH02015494;AMYH02015495;AMYH02015496;AMYH02015497;BC032715;BC103831;BI254810;BX647385;CH471073;NG_009306;NM_001033604;NM_001033605;NM_014451;NM_198428;U85994;U85995;U85997;U87408;XM_005249700;XM_005249701;XM_006715687;XM_006715688 AAB46606;AAB47568;AAB61918;AAB61919;AAD25980;AAD25981;AAH32715;AAI03832;BAG51948;BAG52340;BAG59863;EAL24466;EAL24467;EAW94015;EAW94016;EAW94017;EAW94018;NP_001028776;NP_001028777;NP_055266;NP_940820;Q3SYG4;XP_005249757;XP_005249758;XP_006715750;XP_006715751 Hs.372360 1643644;1664815;1710026;1711808;1711810;1711812;1711814;1711816;1715161;1716343;1726423;1726543;1735636;1753113;1753259;1775086;1776119;1786316;1786452;1849003;1849026;1851466;1855944;2110279;2117528;2117533;2118248;2119313;2146539;2147940;2150895;2154300;2156448;2164966;2167973;2172548;2176129;2182952;5092660 A005O06;AFMb073zc9;B1__4409;D7S1654;D7S2045E;D7S2211;D7S2369;D7S2758;D7S3023;G16033;G16034;G16035;G17153;G32246;G49431;G49432;G49433;G49434;G49435;G62591;G62652;GDB:1317160;GDB:1317164;GDB:1317274;GDB:1317524;GDB:1317644;GDB:1317780;GDB:1318148;GDB:3754215;RH119831;RH121349;SHGC-110128;SHGC-154772;SHGC-172299;SHGC-68722;SHGC-82287;U10572;WI-14062;WI-16854 B1;C18;D1;MGC118917;PTHB1 OTTHUMP00000158833;OTTHUMP00000202918;OTTHUMP00000202919;OTTHUMP00000202920;PTH-responsive osteosarcoma B1 protein;bardet-Biedl syndrome 9 protein;parathyroid hormone-responsive B1 gene protein APPROVED protein-coding ENSG00000122507 HGNC:30000 16262 209900;607968 REVIEWED 1319511 BBS7 Bardet-Biedl syndrome 7 This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Feb 2011] 4 4 4 q27 120131451 120177481 - 122745484 122791652 - 121824329 121870497 - 1579975;6480464;7240710;8699517;8554872 12567324 11567139;12477932;14702039;15489334;15815621;16327777;16344560;17574030;18000879;19077438;19093007;19402160;20080638;20195357;20301537;20301743;20472660;20603001;20801516;21890473;21906983 55212 H0Y973;Q8IWZ6 ABBA01044731;ABBA01044732;AC079341;AF521643;AF521644;AI220177;AK001577;AK308076;AK309803;AMYH02010013;BC032691;BF431967;BG720664;BM998707;BQ940332;BX510161;CH471056;DB139794;NG_009111;NM_018190;NM_176824;XM_005263106 AAH32691;AAO16025;AAO16026;AAY40970;ABM81814;ABM87809;BAA91767;EAX05244;EAX05245;NP_060660;NP_789794;Q8IWZ6;XP_005263163 Hs.591694 1663932;1665396;2130253 SHGC-50595;STS-N20583;WI-3537 BBS2L1;FLJ10715 BBS2-like 1;BBS2-like protein 1;Bardet-Biedl syndrome 7 protein;OTTHUMP00000164091;OTTHUMP00000219992 2289563 BW441_H APPROVED protein-coding ENSG00000138686 HGNC:18758 07399 209900;607590 REVIEWED 1320282 BBX bobby sox homolog (Drosophila) ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN bone development (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2-methylcholine 3 3 3 q13.1 105638147 105926340 + 107241783 107530176 + 107522936 107811329 + 1580863;6480464;8554872 11230166;11680820;12477932;14702039;15489334;15728473;16344560;19240061;19247474;19322201;19471022;19953087;21693764;21832049;22939624;23752268;24332808;24816145;8619474;8889548;9110174 56987 A8K6U2;C9IYG9;C9IYS9;C9J067;C9J0J4;C9J8D0;C9JA69;C9JC04;C9JD74;C9JE62;C9JIZ2;C9JNU3;C9JSH4;C9JYU6;C9JZA0;C9K0D1;H7C1Q0;H7C1U1;Q8WY36 ABBA01061708;ABBA01061709;ABBA01061710;ABBA01061711;AC068765;AC072044;AC117477;AF052174;AF161457;AF168718;AF276948;AF276949;AF283775;AF454941;AF454942;AI168295;AK025944;AK026082;AK057010;AK130627;AK291757;AK307668;AK314434;AL136769;AL834307;AMYH02007384;AMYH02007385;AMYH02007386;AMYH02007387;AMYH02007388;AMYH02007389;AMYH02007390;AW131333;AY527413;BC012837;BC110903;BC131718;CH471052;CN479047;DA218136;NM_001142568;NM_001276286;NM_020235;XM_005247642;XM_005247643;XM_005247644;XM_005247645;XM_005247646;XM_006713706;XM_006713707;XM_006713708;XM_006713709 AAF29017;AAF87320;AAH12837;AAI10904;AAI31719;AAL58870;AAL58871;AAL68984;AAL68985;ACE86845;ACE87532;BAB15290;BAB15355;BAC85398;BAF84446;CAB66703;CAD38977;EAW79738;EAW79739;EAW79740;EAW79741;EAW79742;EAW79743;NP_001136040;NP_001263215;NP_064620;Q8WY36;XP_005247699;XP_005247700;XP_005247701;XP_005247702;XP_005247703;XP_006713769;XP_006713770;XP_006713771;XP_006713772 Hs.124366;Hs.736885 1339705;1648873;1652995;1659620;1665245;1668564;1673850;1675090;1718787;1727361;1740075;1757103;1776953;1797082;2159051 BBX;D3S2308;D3S2443;D3S3099;D3S3499;D3S4229;G63088;RH123097;SHGC-144489;SHGC-58059;SHGC-77195;STS-N31990;WI-16360;WI-16426;WI-17954 ARTC1;HBP2;HSPC339;MDS001 Ag recognized by Treg cells 1;HMG box transcription factor BBX;HMG box-containing protein 2;OTTHUMP00000197189;OTTHUMP00000197190;OTTHUMP00000197192;OTTHUMP00000197193;OTTHUMP00000197194;x 001 protein protein-coding ENSG00000114439 HGNC:14422 10688 VALIDATED 736888 BCAN brevican This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 1 q31 129682549 129700133 + 156611740 156629324 + 156641948 156659532 + 6480464;8554872 10986281;11038354;11054543;11873941;12477932;12975309;14522884;14550776;14702039;14741698;15489334;16061654;16133547;16344560;18029348;18611854;19910543;20950796;21997179;22930747;24250222;7592978;9294172 63827 Q5T3I6;Q5T3I7;Q5T3I8;Q96GW7;V9GXZ8;V9GY88 AB209570;ABBA01016652;AF228710;AF229053;AK126588;AK289759;AL137504;AL365181;AL590666;AMYH02001977;AW298823;AY007241;AY358372;BC009117;BC010571;BC013234;BC022938;BC023209;BC027971;BC029313;BC029348;BC035457;CH471121;DB297352;NG_030013;NM_021948;NM_198427 AAG01897;AAG23134;AAG23135;AAH09117;AAH22938;AAH27971;AAQ88738;BAD92807;BAF82448;CAB70776;EAW52927;EAW52928;EAW52929;EAW52930;EAW52931;NP_068767;NP_940819;Q96GW7 Hs.516904 1665834;1711012;2156957;2161060;5037744 D1S3694;RH63843;SHGC-84885;WI-15716;WI-15733 CSPG7;MGC13038 BEHAB;OTTHUMP00000032164;OTTHUMP00000032165;brain-enriched hyaluronan-binding protein;brevican core protein;brevican proteoglycan;chondroitin sulfate proteoglycan 7;chondroitin sulfate proteoglycan BEHAB;chondroitin sulfate proteoglycan BEHAB/brevican APPROVED protein-coding ENSG00000132692 HGNC:23059 02644;09821 600347 REVIEWED 68545 BCAM basal cell adhesion molecule (Lutheran blood group) This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 19 19 19 q13.2 42115754 42128094 + 45312316 45324678 + 44809059 44821421 + 1580863;6480464;8554872 11133776;11319237;12244066;12477932;12493773;12754519;14641871;14755370;15238148;15278364;15342556;15489334;15790807;16236823;16335952;16584446;17087659;17638854;18067501;18302987;18510579;18514010;18635166;18815288;18972067;19056867;19065527;19201739;19667067;20370913;20562314;20566895;20655789;21139048;21434869;21858073;22404936;22941965;23001842;23125034;23160466;23168236;23192594;23406016;23421542;24036115;24616094;2907851;3810828;7777537;7954395;8781446;8889548;9166867;9192786;9642222 4059 K7ENU8;K7ERB7;P50895 ABBA01040885;ABBA01040886;AC092306;AMYH02036181;AY845133;AY927517;BC036745;BC050450;BC128254;BM985314;BP352029;BU838291;BX387680;CH471126;HE572749;NG_007480;NM_001013257;NM_005581;X80026;X83425 AAH50450;AAV88096;CAA56327;CAA58449;CCC42285;EAW57294;EAW57295;EAW57296;EAW57297;NP_001013275;NP_005572;P50895 Hs.625725 1677332;1680663;1682519;1694734 RH121966;RH81078;RH91124;RH91463 AU;CD239;LU;MSK19 Auberger b antigen;B-CAM cell surface glycoprotein;B-cell adhesion molecule;F8/G253 antigen;antigen identified by monoclonal antibody F8;basal cell adhesion molecule;basal cell adhesion molecule (Lu and Au blood groups);glycoprotein 95kDa;lutheran antigen;lutheran blood group glycoprotein APPROVED protein-coding ENSG00000187244 HGNC:6722 00197 111200;247420;612773 REVIEWED 1347055 BCAP29 B-cell receptor-associated protein 29 INVOLVED IN osteoblast differentiation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; calcitriol 7 7 7 q22.3 102025694 102069076 + 107220422 107263762 + 107579977 107623317 + 737633;1580863;6480464;8554872 12477932 10737800;10931946;11591653;12853948;12886015;14702039;15342556;15489334;16210410;16344560;18097552;19322201;19342655;20237496;20677014;21068099;21378988;21890473;21906983;21963094;24816145;8889548 55973 A6NME1;B7Z2L0;C9IYK6;C9JGJ9;C9JP06;C9JTE9;E9PAJ1;F8WB99;F8WDG1;H0Y7N8;H7C5E2;Q9UHQ4 AA826200;ABBA01057906;AC004839;AC078937;AF126020;AI684765;AK000878;AK289401;AK294824;AK298594;AMYH02016516;AW978976;AW994087;BC008478;BE006248;BF434482;BG616638;BG776708;BG818947;BM023571;BM931263;BP261060;BQ188814;BQ230678;BT006981;BX101190;BX457671;BX647653;CH236947;CH471070;CK820004;DA569360;DA717500;EB388415;H40966;NM_001008405;NM_018844;NR_027830;XM_006716051 AAC83971;AAF17230;AAH08478;AAP35627;BAF82090;BAH11896;BAH12820;EAL24390;EAW83405;EAW83406;EAW83407;EAW83408;EAW83409;EAW83410;EAW83411;NP_001008405;NP_061332;Q9UHQ4;XP_006716114 Hs.303787 1647334;1652252;1657563;1659881;1677426;1848268;1851064;2138176;2163634;5037552 A007D21;D7S2087E;D7S2317;D8S2279;GDB:1318014;RH12603;RH91976;SGC30522;SHGC-56363;WI-15161 BAP29;DKFZp686M2086;FLJ53907 BCR-associated protein 29;OTTHUMP00000206633;OTTHUMP00000206634;OTTHUMP00000206639;OTTHUMP00000214583;OTTHUMP00000214584;OTTHUMP00000214585;OTTHUMP00000214586 protein-coding ENSG00000075790 HGNC:24131 16541 VALIDATED 9587204 BCAP31P1 B-cell receptor-associated protein 31 pseudogene 1 16 16 p11.2 33790429 33794018 - 33987962 33991551 - 100194425 AC133561;AMYH02031946;NG_009002 pseudo HGNC:51323 INFERRED 9587244 BCAP31P2 B-cell receptor-associated protein 31 pseudogene 2 16 16 p11.2 32881304 32884893 + 32869983 32873572 + 100194426 AC142086;AMYH02031902;NG_009003 pseudo HGNC:51324 INFERRED 1349319 BCAP31 B-cell receptor-associated protein 31 This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012] X X X q28 153199631 153223882 - 152965947 152990201 - 153700492 153724746 - 1580863;6480464;6907045;7483567;7240710;8554872;8699517 24011989 10958671;11042173;11076863;11163199;11561007;11851433;11917123;11992258;12477932;12529377;12594175;12605685;12668660;12886015;14502241;14702039;14741744;15024066;15161933;15254227;15294914;15489334;15489336;15772651;15933766;16196087;16344560;16381901;16858427;17003517;17056546;17255364;17401199;17500595;17558393;18029348;18287538;18555783;18684816;19165151;19221507;19342655;19519245;19946888;20360068;20639865;21081644;21103663;21139048;21151997;21183955;21285974;21527846;21890473;21906983;21947079;21963094;21988832;22053931;22056873;22182703;22190034;22304920;22505724;23246001;23284715;24332808;24395279;24816145;7806238;8125298;8612576;8706661;9334338;9396746;9804161 10134 C9J0M4;C9JM14;C9JMD7;C9JQ75;C9JSP1;P51572 ABBA01045364;ABBA01045365;ABBA01045366;ABBA01045367;AI123868;AK057613;AK125631;AK222494;AK223059;AMYH02040842;AU132745;BC014323;BC065292;BE729820;BG779815;BX474419;CH471172;CX164660;DA134013;DA819112;NG_023231;NM_001139441;NM_001139457;NM_001256447;NM_005745;U36341;U52111;X81109;Z31696 AAA79508;AAH14323;AAH65292;BAD96214;BAD96779;BAG51941;BAG54226;CAA57015;CAA83501;CAL37717;EAW72818;EAW72819;EAW72820;EAW72821;EAW72822;EAW72823;EAW72824;EAW72825;NP_001132913;NP_001132929;NP_001243376;NP_005736;P51572 Hs.522817 1336247;1683058;1702226;1702456;1744517;1744549;1744551;2126093;2147947;2182925;5016666 D5S651;DXS7418;DXS7452;GDB:511618;GDB:523970;GDB:524010;RH70615;RH71460;RH77716;RH79936;UniSTS:99200 6C6-AG;BAP31;CDM;DDCH;DXS1357E 6C6-AG tumor-associated antigen;BCR-associated protein Bap31;OTTHUMP00000025977;OTTHUMP00000025978;OTTHUMP00000025979;OTTHUMP00000025980;OTTHUMP00000025981;OTTHUMP00000025983;p28 Bap31 APPROVED protein-coding ENSG00000185825 HGNC:16695 02319 300398;300475 REVIEWED 9587245 BCAR1P1 breast cancer anti-estrogen resistance 1 pseudogene 1 15 15 20278178 20279587 - 20072925 20074334 - 100533717 ABBA01114335;AC087386;AMYH02029973;NG_028857 pseudo HGNC:51325 INFERRED 9587272 BCAR1P2 breast cancer anti-estrogen resistance 1 pseudogene 2 15 15 21285367 21286776 - 21080038 21081447 - 100533718 AC126335;AMYH02029998;NG_028859 pseudo HGNC:51326 INFERRED 1349826 BCAR2 breast cancer anti-estrogen resistance 2 9259413 9565 HGNC:972 734116 BCAR1 breast cancer anti-estrogen resistance 1 BCAR1, or CAS, is an Src (MIM 190090) family kinase substrate involved in various cellular events, including migration, survival, transformation, and invasion (Sawada et al., 2006 [PubMed 17129785]).[supplied by OMIM, May 2009] 16 16 16 q23.1 59556476 59596268 - 75262928 75301951 - 75229030 75268053 - 1579979;734988;6480464;6484113 11605729;9697697 10026197;10085298;10092204;10093970;10187783;10208419;10320483;10329689;10339567;10487518;10502414;10587647;10639512;10639513;10675905;10692442;10712510;10739664;10747099;10753828;10787408;10799562;10801330;10822386;11032817;11036077;11071869;11113628;11146654;11158326;11181995;11278335;11278916;11369773;11432831;11493697;11514617;11577104;11593413;11607844;11779709;11782456;11820787;11839772;12119061;12135674;12397603;12446789;12477932;12517963;12529399;12601080;12615911;12618476;12714323;12738793;12819203;12893833;12972425;14657239;14688263;14702039;15020686;15121874;15448007;15492270;15588985;15592455;15673687;15728191;15778465;15784259;15866871;15923424;15951569;16020549;16040804;16099422;16105984;16169070;16212419;16245368;16267043;16344560;16413489;16440329;16581250;16597701;16600665;16644720;16964243;17038317;17081983;17129785;17251438;17474147;17616674;17979178;17982677;18078823;18095869;18164686;18321991;18477472;18725541;18835194;18842495;19029090;19086031;19329671;19330798;19331827;19357231;19380743;19412734;19732724;19822523;19844255;19940159;20688056;20961652;21047529;21245381;21291860;21306301;21630091;21765937;21855630;21890473;21937722;21952639;21957230;22081014;22082156;22084245;22106368;22144090;22241677;22395610;22431919;22476538;22558353;22711540;22863883;22892392;22974441;23000965;23042269;23152477;23239970;23287717;23345605;23457408;23665963;23740246;23839042;23872147;23904007;24250222;24284072;24584939;7479864;7780740;8070403;8413311;8649368;8649427;8668148;8683103;8700507;8810278;8887669;8889548;8940134;8978305;8995252;8999909;9020138;9148935;9188452;9285683;9295052;9360968;9360983;9366405;9425168;9472046;9498705;9581808;9621077;9697683;9748234;9748319;9759889;9920935 9564 B2RBL9;B3KWE2;F5H855;H3BN62;H3BP62;H3BQJ7;H3BSB2;H3BSY4;H3BTB0;H3BTL5;H3BU42;H3BVF0;P56945 AB040024;ABBA01058126;ABBA01058127;AC009078;AF218451;AJ242987;AK026121;AK027608;AK074958;AK124526;AK124815;AK124844;AK125719;AK127004;AK293808;AK294513;AK295809;AK302617;AK314722;AMYH02032396;AMYH02032397;AY545071;BC014402;BC062556;BU730553;CH471114;DA418642;DC310094;DC317947;NM_001170714;NM_001170715;NM_001170716;NM_001170717;NM_001170718;NM_001170719;NM_001170720;NM_001170721;NM_014567;XM_005256258;XM_005256259;XM_005256260;XM_006721348;XM_006721349 AAF27527;AAH14402;AAH62556;AAS48631;ACE86415;ACE87091;BAA92711;BAB55230;BAC11315;BAG37266;BAG54047;BAG54099;BAG54104;BAG54238;BAG57215;BAG57726;BAG58627;BAH13763;CAB75875;EAW95651;EAW95652;EAW95653;EAW95654;EAW95655;EAW95656;NP_001164185;NP_001164186;NP_001164187;NP_001164188;NP_001164189;NP_001164190;NP_001164191;NP_001164192;NP_055382;P56945;XP_005256315;XP_005256316;XP_005256317;XP_006721411;XP_006721412 Hs.479747 1341608;1712074;1720329;1766915;1795416 BCAR1_714;D16S3051;G54085;RH123913;SHGC-152387 CAS;CAS1;CASS1;CRKAS;FLJ12176;FLJ45059;P130Cas Cas scaffolding protein family member 1;Crk-associated substrate p130Cas;OTTHUMP00000174941;OTTHUMP00000174942;breast cancer anti-estrogen resistance protein 1;v-crk-associated tyrosine kinase substrate APPROVED protein-coding ENSG00000050820 HGNC:971 04248 602941 VALIDATED 2299009 BCAR4 breast cancer anti-estrogen resistance 4 (non-protein coding) INTERACTS WITH tamoxifen 16 16 16 p13.13 12088006 12097008 - 11913687 11922689 - 11819830 11828832 - 6480464 16778085;20859285;21506106 400500 ABBA01006834;AC010654;AMYH02031481;AMYH02031482;BX107175;HE601934;HG507735;HG507737;HG507738;HG507739;NR_024049;NR_024050 CCD83327 Hs.24611 1848316 SHGC-61055 RP11-486I11.1 APPROVED ncrna ENSG00000262117 HGNC:22170 613746 VALIDATED 1323276 BCAR3 breast cancer anti-estrogen resistance 3 Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 1 1 1 p22.1 92281411 92401455 - 94027343 94312706 - 93561786 93847150 - 1580863;6480464;8554872 10187783;12477932;12517963;12975309;14702039;15146197;15489334;15642172;15671247;16273093;16344560;16710414;16964243;17081983;17270363;17353931;17427198;17616674;18722344;19454314;19913121;19940159;20628086;21262352;21832049;21988832;22711540;23762409;24216110;24584939;8880875;9436634;9582273 8412 B3KNL6;B3KP06;O75815 ABBA01045519;ABBA01045520;ABBA01045521;ABBA01045522;ABBA01045523;AF124250;AK027785;AK055442;AK301570;AK310970;AL049796;AL109613;AL359820;AL512488;AL833121;AMYH02001501;AMYH02001502;AMYH02001503;AMYH02001504;AMYH02001505;AY358996;BC028477;BC039895;BQ015705;CH471097;CN337133;DA057195;DA745974;KF510739;NM_001261408;NM_001261409;NM_001261410;NM_003567;U92715 AAC39777;AAD28245;AAH39895;AAQ89355;ACE87803;ACT64456;BAG51378;BAG51518;BAG63064;EAW73065;EAW73066;EAW73067;EAW73068;NP_001248337;NP_001248338;NP_001248339;NP_003558;O75815 Hs.36958 1651149;1657995;1665824;1670638;1757223;1778402;1849766;1849768;1853598;1854370;2115094;2130441;2155675 A001Z29;AL009351;G19821;RH11826;RH18230;RH64611;SHGC-144640;SHGC-33752;SHGC-75137;SHGC-75138;SHGC-75160;SHGC-75163;WI-18126 KIAA0554;NSP2;SH2D3B OTTHUMP00000011959;OTTHUMP00000011960;OTTHUMP00000011961;OTTHUMP00000011962;SH2 domain-containing protein 3B;breast cancer anti-estrogen resistance protein 3;breast cancer antiestrogen resistance 3 protein;dJ1033H22.2 (breast cancer anti-estrogen resistance 3);novel SH2-containing protein 2 APPROVED protein-coding ENSG00000137936 HGNC:973 05268 604704 REVIEWED 1315129 BCAS2 breast carcinoma amplified sequence 2 INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); RNA splicing, via transesterification reactions (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN cell junction; DNA replication factor A complex; nucleus; INTERACTS WITH (+)-catechin; cobalt dichloride; copper(2+) sulfate 1 1 1 p13.2 113339412 113353499 - 115110178 115124265 - 114567557 114581644 - 1580863;6480464;6907045 10403562;11101529;12169396;12406557;12429849;12477932;15489334;15694360;16159877;16710414;17332742;17353931;19903847;20176811;20360068;21139048;21145461;21536736;21906983;21963094;21988832;22365833;22939629;23084401;23314748;23455922;24189344;24332808;24457600;24667650;24816145;8125298;9731529 10286 B2R7W3;O75934 AB020623;AB451245;AB451369;ABBA01068464;AF081788;AK222637;AK313141;AL390241;AMYH02001782;AMYH02001783;BC005285;BC012623;BC022880;BC039238;BF184377;BT019390;CH471122;CQ831058;CR542037;NM_005872 AAC64059;AAH05285;AAH12623;AAH22880;AAV38197;ABM83455;ABW03501;ACE87016;ACE87704;BAA34863;BAD96357;BAG35960;BAG70059;BAG70183;CAG46834;CAH05197;EAW56602;EAW56603;EAW56604;NP_005863;O75934 Hs.22960 1739815;2170546;2190561 D1S2509E;EST28B4;SHGC-36835 DAM1;SPF27;Snt309 DNA amplified in mammary carcinoma 1 protein;OTTHUMP00000013668;breast carcinoma-amplified sequence 2;pre-mRNA-splicing factor SPF27;spliceosome associated protein, amplified in breast cancer;spliceosome-associated protein SPF 27 protein-coding ENSG00000116752 HGNC:975 05777 605783 VALIDATED 1351231 BCAS1 breast carcinoma amplified sequence 1 This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Jul 2008] 20 20 20 q13.2 49264729 49391950 - 52560079 52687304 - 53943540 54070765 - 6480464;8554872 10857754;11148209;11780052;12477932;14567997;15489334;15583422;17353931;18976975;20379614;20889312;8125298;8758909;9671742 8537 B4DFL4;B4E2C4;G3XAF7;H0Y542;H7C1E7;O75363 ABBA01052869;ABBA01052870;AC004501;AC005220;AF041260;AK225656;AK294135;AK294150;AK295318;AK304213;AK308384;AK311215;AK315220;AK316038;AL354801;AMYH02037305;AMYH02037306;BC024044;BC126346;BC126348;CH471077;CR749643;KF495690;NM_003657;XM_005260587;XM_005260589;XM_005260590;XM_005260591;XM_005260592;XM_005260593;XM_005260594;XM_005260595;XM_005260596 AAC39896;AAH24044;AAI26347;AAI26349;ADR83077;ADR83308;BAG37652;BAG57463;BAG57475;BAG58295;BAG65086;BAH14409;CAH18437;EAW75574;EAW75575;EAW75576;NP_003648;O75363;XP_005260644;XP_005260646;XP_005260647;XP_005260648;XP_005260649;XP_005260650;XP_005260651;XP_005260652;XP_005260653 Hs.400556 1334718;1645838;1665329;1667221;1854203;2121816;2122549;2137350;2137352;2140881 A004M22;AL022246;D20S1085;D20S720;D6S1155E;RH47737;RH78040;STS-Z41321;Z94303;Z94440 AIBC1;NABC1 OTTHUMP00000031313;OTTHUMP00000165942;OTTHUMP00000165943;amplified and overexpressed in breast cancer;breast carcinoma-amplified sequence 1;novel amplified in breast cancer 1 APPROVED protein-coding ENSG00000064787 HGNC:974 04273 602968 REVIEWED 5128965 BCAS2P2 breast carcinoma amplified sequence 2 pseudogene 2 1 1 1 99119723 99120345 - 100858592 100859214 - 100393036 100393658 - 100421045 ABBA01045439;AC104457;AMYH02001555;NG_026962 pseudo HGNC:39595 INFERRED 5128999 BCAS2P3 breast carcinoma amplified sequence 2 pseudogene 3 13 13 13 q31.1 60640336 60640998 + 79740362 79741024 + 79166227 79166889 + 100128339 ABBA01021685;AL161892;AMYH02028337;NG_021971 pseudo HGNC:39596 INFERRED 5129001 BCAS2P1 breast carcinoma amplified sequence 2 pseudogene 1 11 11 11 q14.1 80152858 80158406 + 82843080 82845400 + 83132038 83134358 + 100127960 ABBA01017366;AP000873;NG_021825 pseudo HGNC:39594 INFERRED 1352594 BCAS4 breast carcinoma amplified sequence 4 FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 5-fluorouracil 20 20 20 q13.13 46115734 46197974 + 49411467 49493714 + 50794894 50877177 + 6480464 11780052;12378525;12477932;14702039;15342556;15489334;21906983 55653 H7C4Y8;Q8TDM0 ABBA01052786;ABBA01052787;ABBA01052788;ABBA01052789;ABBA01052790;AF361220;AJ511266;AK000502;AL031680;AL133228;AMYH02037244;AMYH02037245;AMYH02037246;BC038381;BC047337;BC056883;BP212127;CH471077;KF456936;NM_001010974;NM_017843;NM_198799 AAH38381;AAH47337;AAL99633;BAA91209;CAD53579;EAW75613;EAW75614;NP_001010974;NP_060313;NP_942094;Q8TDM0 Hs.381178 1772685;2149946;2220552 RH65330;SHGC-64933;UniSTS:484435 CNOL;FLJ20495 BCAS4/BCAS3 fusion;OTTHUMP00000031272;OTTHUMP00000031273;OTTHUMP00000031274;OTTHUMP00000215950;breast carcinoma amplified sequence 4/3 fusion protein;breast carcinoma-amplified sequence 4 protein-coding ENSG00000124243 HGNC:14367 06314 607471 VALIDATED 1319844 BCAS3 breast carcinoma amplified sequence 3 ENCODES a protein that exhibits acetyltransferase activator activity; beta-tubulin binding; chromatin binding; INVOLVED IN cellular response to estrogen stimulus; positive regulation of catalytic activity; positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Breast Neoplasms; FOUND IN cytoplasm; nucleus; transcriptionally active chromatin; INTERACTS WITH 3-methylcholanthrene; aflatoxin B1; benzo[a]pyrene 17 17 17 q23 57855963 58571253 + 58755172 59470199 + 60677811 61392838 + 1580863;2317828;6480464;8554872 16855396 12378525;12477932;14702039;15489334;16344560;16617102;17505058;18030336;18391951;20383146;20546612;20548946;21742584;21906983;22610502;22797727;23251661;23263486;23535033;8125298 54828 K7EIE2;K7EIR7;K7EJH7;K7EJU7;K7EKB0;K7ELH0;K7EML5;K7EQA6;K7ESE9;Q05D99;Q9H6U6 ABBA01035385;ABBA01035386;ABBA01035387;ABBA01035388;ABBA01035389;ABBA01035390;ABBA01035391;ABBA01035392;ABBA01035393;ABBA01035394;ABBA01035395;ABBA01035396;ABBA01035397;ABBA01035398;ABBA01035399;ABBA01035400;ABBA01035401;AC005746;AC005856;AC005884;AC015876;AC079005;AC110602;AF260268;AF361219;AJ511332;AJ518105;AJ518836;AK000135;AK022526;AK023054;AK025510;AK225757;AK304791;AK314744;AL831895;AMYH02033725;AMYH02033726;AMYH02033727;AMYH02033728;AMYH02033729;AMYH02033730;AMYH02033731;AMYH02033732;AMYH02033733;AMYH02033734;AMYH02033735;AMYH02033736;AMYH02033737;AMYH02033738;AMYH02033739;AMYH02033740;AMYH02033741;BC001250;BC013841;BC017390;BC029983;BC033220;BC036280;BC117275;BC143386;BC143387;BX648103;CA444316;CH471179;DA188234;DA789232;KF456302;NM_001099432;NM_017679;XM_005257472;XM_005257473;XM_005257474;XM_005257475;XM_005257476;XM_005257477 AAF70324;AAH01250;AAH17390;AAI17276;AAI43387;AAI43388;AAL99632;BAA90966;BAB14078;BAB14380;BAB15156;BAG37284;BAG65541;CAD38568;CAD54076;CAD57723;CAD57724;EAW51410;EAW51411;EAW51412;EAW51413;EAW51414;EAW51415;EAW51416;NP_001092902;NP_060149;Q9H6U6;XP_005257529;XP_005257530;XP_005257531;XP_005257532;XP_005257533;XP_005257534 Hs.655028 1335941;1654952;1662022;1675734;1681046;1698070;1718409;1729851;1778005;1794386;1794388;1794392;1794394;2116860;2147771;2149297;2164941;2165830;2173837;2176565;2190839;5020843;5120227;5120917;7186314 A008N15;AFMa348zg1;D17S1838;D17S603;D17S688;FCA082;GDB:213539;PMC311067P2;PMC311067P3;PMC311067P5;PMC311067P6;RH102567;RH11846;RH122979;RH45637;RH46138;RH77934;RH78352;RH79698;RH99142;SHGC-36265;STS-N93418;STS-T62860;WI-18428 DKFZp686O1527;FLJ20128;GAOB1;MAAB;MGC4973 BCAS4/BCAS3 fusion;breast carcinoma amplified sequence 4/3 fusion protein;breast carcinoma-amplified sequence 3;metastasis associated antigen of breast cancer;protein Maab1 protein-coding ENSG00000141376 HGNC:14347 06313 607470 VALIDATED 1345403 BCAT1 branched chain amino-acid transaminase 1, cytosolic This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010] 12 12 12 p12.1 30109823 30249287 - 24962958 25102393 - 24810024 24949459 - 67954;631308;1580863;6480464;6907045;8554872 10686349;9165094 10471790;12477932;14702039;15231748;16141215;17007058;17846126;18074675;18419134;19119849;19260141;19913121;20062060;20339536;20379614;20628086;20639392;20734064;20877624;21139048;21987572;22107788;22863883;23000965;23043456;23400010;23455924;23758864;23793099;24250222;24463277;24816145;6933702;7566098;8692959;8889548;9657861 586 F5H2F2;P54687 AA376058;ABBA01068010;ABBA01068011;ABBA01068012;ABBA01068013;AC023796;AC026310;AC092867;AF277179;AK024923;AK025615;AK056255;AK128527;AK294879;AK299088;AL390172;AMYH02026214;AMYH02026215;BC026006;BC033864;BM458559;BU618839;BU730066;BX474651;BX647122;CH471094;CR749308;DC385021;KF455624;NG_008170;NM_001178091;NM_001178092;NM_001178093;NM_001178094;NM_005504;U21551;XM_005253460 AAB08528;BAB71129;BAG54689;BAH11911;BAH12946;CAH18163;EAW96497;EAW96498;EAW96499;NP_001171562;NP_001171563;NP_001171564;NP_001171565;NP_005495;P54687;XP_005253517 Hs.438993 1335547;1649672;1653965;1699414;1722893;2107885;2138464;2140437 BCAT1_8225;D12S1435;D12S1617;D12S1956;G60541;RH103298;RH44650;SHGC-57548 BCATC;BCT1;DKFZp686E12175;ECA39;MECA39;PNAS-121;PNAS121;PP18 OTTHUMP00000240002;OTTHUMP00000240003;OTTHUMP00000240004;OTTHUMP00000240005;OTTHUMP00000240006;branched chain aminotransferase 1, cytosolic;branched-chain-amino-acid aminotransferase, cytosolic;placental protein 18 APPROVED protein-coding ENSG00000060982 HGNC:976 00216 113520 REVIEWED 1316516 BCCIP BRCA2 and CDKN1A interacting protein This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q26.1 121287539 121317699 + 127512102 127542264 + 125823535 125853695 + 1580863;6480464 10878006;11313963;11748848;11754111;11836363;12477932;12527204;14702039;14726710;15164054;15231748;15489334;15539944;1571364;15713648;16169070;16189514;16247447;16341674;17081983;17135243;17353931;17452982;17620012;17627904;17947333;18299662;18413737;18440304;18773424;18950845;19578363;19653894;19713748;19861517;21139048;21890473;21900206;21906983;21963094;21988832;22863883;22939629;22990118;23000965;23383273;23911796;24250222;24778252;25027693;8889548 56647 B4DUS0;B4E318;Q9P287 AA806484;AB040450;AB040451;ABBA01034170;ABBA01034171;AK055691;AK092054;AK300767;AK304529;AL360176;AL834458;AMYH02023997;AY064247;AY064248;AY064249;AY092061;BC009771;BM741863;BM905542;BM974496;BQ008485;CH471066;NG_029095;NM_016567;NM_078468;NM_078469 AAH09771;AAL55436;AAL55438;AAL55439;AAL55440;BAA92927;BAA92928;BAG51557;BAG62432;BAG65330;CAD39118;EAW49218;EAW49219;EAW49220;NP_057651;NP_510868;NP_510869;Q9P287 Hs.370292;Hs.715543 1656255;1683211;1736142;1789090;2145466;2161201;2172859;2184295;2186394;5491958;7185551 A004G05;D10S1398E;DHX32;G65680;RH44594;RH98320;SGC34496;SHGC-33832;STS-AA036771;WI-11581 TOK-1;TOK-1alpha;TOK-1beta;TOK1 BCCIPalpha;BCCIPbeta;BRCA2 and CDKN1A-interacting protein;BRCA2 and Cip1/p21 interacting protein;OTTHUMP00000020714;OTTHUMP00000020715;OTTHUMP00000020716;cdk inhibitor p21 binding protein;p21- and CDK-associated protein 1 APPROVED protein-coding ENSG00000107949 HGNC:978 16542 611883 REVIEWED 69002 BCAT2 branched chain amino-acid transaminase 2, mitochondrial This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 19 19 19 q13 46166129 46182134 - 49298319 49314320 - 48795062 48811063 - 67954;1300291;1582175;1580863;1300048;6480464;6907045;8554872 11733007;14755340;9165094 11170829;11264579;12119021;12269802;12477932;12686109;14702039;15182179;15489334;16141215;16344560;17050531;19119849;20877624;21832049;21890473;21906983;21963094;21988832;22107788;23043456;24250222;3896163;6933702;8125298;8702755;8889548;9478945;9657861;9665099 587 B3KSI3;M0QXF9;M0QZ10;M0QZP4;M0R2K7;O15382 ABBA01032966;AC026803;AF268047;AF268048;AK023909;AK093627;AK223522;AK309428;AK310101;AK310243;AK314548;AMYH02036311;BC001900;BC004243;BE139200;BM802402;BU178552;CA310873;CB049110;CH471177;DA129578;DC395685;HC897076;NG_013003;NM_001164773;NM_001190;NM_001284325;U62739;U68418 AAB53087;AAB67672;AAH01900;AAH04243;AAK38368;AAK38369;ABM83276;ABM86480;BAD97242;BAG37134;BAG52745;CBN62949;EAW52403;NP_001158245;NP_001181;NP_001271254;O15382 Hs.512670 2107887 BCAT2_8226 BCAM;BCATM;BCT2;PP18 branched chain aminotransferase 2, mitochondrial;branched-chain-amino-acid aminotransferase, mitochondrial;placental protein 18 APPROVED protein-coding ENSG00000105552 HGNC:977 00217 113530 REVIEWED 6766505 BCDIN3D-AS1 BCDIN3D antisense RNA 1 12 12 12 q13.13 49018345 49030956 + 50222326 50234937 + 49828543 49841154 + 14702039;16344560;16712791;23563607 100286844 ABBA01031537;ABBA01031538;AC131157;AI193197;AK055142;AMYH02026450;BC014925;CB153643;DA122615;HG504740;HG504742;NR_027499;NR_027500;NR_027501 Hs.656019 1683128;2117456 RH79782;SHGC-17415 RP11-70F11.6 APPROVED ncrna ENSG00000258057 HGNC:44113 VALIDATED 1601723 BCDIN3D BCDIN3 domain containing ENCODES a protein that exhibits O-methyltransferase activity; RNA methyltransferase activity; INVOLVED IN miRNA metabolic process; negative regulation of pre-miRNA processing; RNA methylation; FOUND IN cytoplasm; nucleus; INTERACTS WITH 2-methylcholine; arsane; arsenic atom 12 12 12 q13.12 49025845 49032931 - 50229826 50236912 - 49836043 49843129 - 6480464 12477932;17207965;19079260;19322201;19557197;20215397;20712903;20724581;20816195;21145461;21890473;23063121 144233 Q7Z5W3 ABBA01031538;AC131157;AK292194;AMYH02026450;BC040957;BC053560;BU622810;CD690663;CH471111;NM_181708 AAH53560;ADQ32577;BAF84883;EAW58101;NP_859059;Q7Z5W3 Hs.142736 1683128;2117456;5014051;5021872;5022200;5037552 D8S2278;D8S2279;L18426;RH79782;SHGC-17415;sY3084 BCDIN3 domain-containing protein;OTTHUMP00000242155;pre-miRNA 5'-monophosphate methyltransferase;probable methyltransferase BCDIN3D protein-coding ENSG00000186666 HGNC:27050 14065 VALIDATED 732174 BCHE butyrylcholinesterase Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008] 3 3 3 q26.1-q26.2 163889280 163954027 - 165490692 165555260 - 165772904 165837472 - 1599458;1331525;734636;1601328;1599454;1580863;1601317;1601321;1601322;1601335;2306780;2306781;2306778;2306779;2306782;2306783;2306776;2306777;5687326;5688055;5687325;5687328;5687327;5687690;5688056;5688128;5688132;5688134;5688133;5688130;6480464;5688127;7240710;8699517;8554872 11478742;11793025;12379509;12383920;12387587;15118671;15219807;15907830;16187484;16442234;16442260;16973370;17026497;17275003;17657467;17852836;17917325;20122907;20138875;21303225;21771623;21921108;22012848;22123563;22157615;2915989;2953866;7634486;8149699;9694584 10529218;11125748;11436125;11569538;11725818;11738493;11749053;11848688;11849755;11856322;11856351;12003252;12009429;12044901;12074828;12130740;12387584;12417112;12477932;12668920;12687586;12724618;12811800;12869558;12881446;12901493;14622273;14686935;14718574;14735258;14760718;15060281;15111428;15258737;15386241;15449725;15465921;15489334;15519745;15690550;15696543;15731585;15781196;15802910;15834019;16020944;16105444;16213467;16278840;16288482;16289064;16298355;16335952;16344560;16429499;16504521;16731619;16788378;16801396;16824336;16909200;16962996;17116317;17192624;17318303;17335779;17350607;17410321;17503475;17660298;17690023;1769657;1769658;17698511;17700357;17701416;17768338;17923322;17996334;18075469;18076380;18165570;18237553;18290843;18300943;18322399;18334913;18422653;18457821;18550040;18555211;18640242;18778798;18780301;19006190;19010318;19019080;19056482;19156168;19217865;19383604;19452557;19474452;19481150;19578796;19617863;19685167;19713000;19913121;19956635;20056567;20058037;20143968;20193849;20308990;20356562;20379614;20399202;20445134;20529763;20538374;20628086;20644562;20677742;20807286;20879632;20883446;20886866;21029050;21402063;21454498;21473860;21493754;21530486;21547979;21576115;21862451;21943158;22040426;22294139;22331678;22402324;22560633;22750491;22778864;22901043;22917637;22922115;22935510;23000450;23022600;23044488;23063927;23092211;23123771;2318303;2322535;2339692;23419831;23466605;23508960;23650977;23689009;23782236;24001779;24041656;24125115;24312228;24446003;24870023;2758686;3035536;3067729;3115973;3477799;3542989;8063698;8622553;8680411;8930175;9543549;9673783 590 D3DNN4;F8WEX7;F8WF14;H0Y885;H7C4Y0;P06276;Q96HL2 ABBA01058744;ABBA01058745;AC009811;AK292063;AMYH02008072;AMYH02008073;BC008396;BC018141;BF056152;CH471052;DA426203;M16474;M16541;M32391;NG_009031;NM_000055;XM_005247685 AAA52015;AAA98113;AAA99296;AAH08396;AAH18141;ABM81967;ABM85146;BAF84752;EAW78591;EAW78592;EAW78593;EAW78594;NP_000046;P06276;XP_005247742 Hs.420483 1740979;1741075;1741077;1743635;1743637;1744891;1744893;1744895;1744897;1745731;1745733;1746115;1751331;1858313;2106443;2113732;2175496;2176253 BCHE;BCHE_4440;D3S3886;G64459;GDB:177095;GDB:177651;GDB:177652;GDB:363550;GDB:363553;GDB:580568;GDB:580574;GDB:580578;GDB:580581;GDB:632859;GDB:632866;SHGC-105146;STS-M16541;WI-18944 CHE1;CHE2;E1 OTTHUMP00000212636;acylcholine acylhydrolase;butyrylcholine esterase;choline esterase II;cholinesterase;cholinesterase (serum) 2;cholinesterase 1;pseudocholinesterase APPROVED protein-coding ENSG00000114200 HGNC:983 01519 177500 REVIEWED 1343415 BCGF1 B-cell growth factor 1, 12kDa 1580863 7698329 588 P20931 HGNC:981 1351460 BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008] 6 6 6 q14.1 81237906 81477561 + 80816344 81055987 + 80106627 80346270 + 1599466;1599467;1580863;6480464;6907045;7240710;8554872;8699517 2022752;9460082 10745006;11509994;11839747;12477932;12902323;15166214;15489334;15576032;16472748;17329260;17524396;17922217;18378174;1860867;1889817;19480318;20301313;20301495;20379614;20877624;21145461;22593002;23313820;2335211;23400010;23563607;2365818;24250222;7918575;8161368;8651316 594 B7ZB80;P21953 ABBA01040421;AK289977;AK304353;AK310838;AK316545;AL049696;AL391595;AMYH02013981;AMYH02013982;BC034481;BC040139;BM553932;BT020063;CH471051;D90391;DB548202;DC372349;KF458208;M55575;NG_009775;NM_000056;NM_183050;U50708;U51015;U51016;X52446;XM_005248756;XM_006715542 AAA51812;AAB09779;AAB09780;AAB16763;AAH34481;AAH40139;AAV38866;BAA14389;BAF82666;BAG65195;BAH14916;CAA36685;EAW48696;EAW48697;EAW48698;NP_000047;NP_898871;P21953;XP_005248813;XP_006715605 Hs.654441 1664805;1671199;1698358;1754149;1777514;2115069;2118994;2127678;5015404;5020740;5022651;5024413;5037552;5092670;5122325;7190931;7190935 A005P24;D11S2921;D6S1762;D6S1856;D6S1866;D8S2279;G32255;L17705;L17809;L17877;RH102720;RH15773;RH46797;SHGC-132178;SHGC-36275 E1B;FLJ17880;dJ279A18.1 2-oxoisovalerate dehydrogenase beta subunit;2-oxoisovalerate dehydrogenase subunit beta, mitochondrial;BCKDE1B;BCKDH E1-beta;E1b-beta subunit of the branched-chain complex;OTTHUMP00000018048;OTTHUMP00000018049;branched chain alpha-ketoacid dehydrogenase E1-beta subunit;branched-chain alpha-keto acid dehydrogenase E1 component beta chain APPROVED protein-coding ENSG00000083123 HGNC:987 02011 248600;248611 REVIEWED 734102 BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 19 19 19 q13.1-q13.2 38703549 38730745 + 41903694 41930910 + 41397789 41425005 + 1599467;734637;737779;1580863;6480464;6907045;7240710;8554872;8699517 1943689;8037208;9460082 10745006;11839747;12477932;12812918;12902323;1356170;1420356;15166214;15322287;15489334;15576032;16757574;1682165;17081983;17353931;17922217;18378174;1861457;1867199;1885764;1889817;19085071;19456321;19480318;19715473;20136525;20301313;20301495;20431954;2060625;20877624;21145461;21844576;2241958;22593002;22956686;23729548;24250222;24816145;2703538;2805821;2914958;3224821;3379058;7883996;7918575;8161368;8889548;9582350 593 F5GXU9;F5H5P2;H0YH20;H0YH31;P12694;Q59EI3 AB209828;ABBA01040807;ABBA01040808;AC011462;AK298188;AK313300;AL833143;AMYH02036134;BC007878;BC008933;BC023983;BE223026;BG742673;BI910860;BM702667;BQ018849;CH471126;J04474;M22221;NG_013004;NM_000709;NM_001164783;S38309;S38324;Z14093 AAA35590;AAB19267;AAB19268;AAB59549;AAH07878;AAH08933;AAH23983;BAD93065;BAG36106;BAG60459;CAA78475;CAH56215;EAW57039;EAW57040;NP_000700;NP_001158255;P12694 Hs.433307 1743925;1743927;1743929;1854126;2107889;2116901;2136320;2142506;2142508;2156652;2172606;5017657;5092382;5120840;5491671 A005U20;A007H11;BCKDHA;BCKDHA_8227;G20507;G54154;GDB:375700;GDB:375706;GDB:375709;GDB:375712;IB1022;MARC_7273-7274:996687712:3;RH35849;SHGC-12313;SHGC-24398 BCKDE1A;FLJ45695;MSU;MSUD1;OVD1A 2-oxoisovalerate dehydrogenase (lipoamide);2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial;BCKDH E1-alpha;OTTHUMP00000238014;OTTHUMP00000238015;OTTHUMP00000238024;OTTHUMP00000238025;branched-chain alpha-keto acid dehydrogenase E1 component alpha chain APPROVED protein-coding ENSG00000248098 HGNC:986 02009 248600;608348 REVIEWED 1347575 BCL10 B-cell CLL/lymphoma 10 This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. [provided by RefSeq, Jul 2008] 1 1 1 p22 83975888 83987016 - 85731459 85742604 - 85265776 85276921 - 1580863;6480464;6484113;6907045;7240710;8554872 10187770;10187771;10187815;10319863;10364242;10380921;1040062;10400625;10753917;11021819;11053425;11090634;11113112;11163238;11259443;11262391;11278692;11356195;11387339;11466612;11472070;11830492;11836626;11960389;12017308;12154360;12477932;12761501;14523480;14638696;14674990;14695475;15082780;15122200;15125833;15184390;15207693;15213237;15489334;15637807;15878976;16123224;16127295;16186825;16229939;16280327;16341151;16356855;16395405;16647297;16712791;16775419;16785131;16809782;16831874;16920630;17047224;17052756;17095757;17101977;17179215;17189706;17199743;17213322;17287217;17353931;17363905;17371994;17468049;17502353;17540779;17893875;17948050;18223652;18231929;18252714;18287044;18307945;18346354;18349075;18625728;18806265;18949449;19035248;19112107;19279678;19309400;19322201;19336552;19444310;19573080;19593445;19690445;19709433;19773279;19815501;19897484;20164171;20237496;20439115;20466000;20551178;20695076;21048031;21406399;21513986;21674474;21700900;21896478;21988832;22474286;22547678;22564715;22579587;22708078;22812606;22818167;23153494;23530562;23661444;23690623;23784377;24074955;24130731;24250222;24732096;8813110;9989495 8915 O95999 ABBA01045640;AF057700;AF082283;AF097732;AF100338;AF105066;AF127386;AF134395;AJ006288;AK291346;AL590113;AMYH02001382;BC053617;BI831624;BX647306;CA420027;CA443148;CB126730;CH471097;EF189176;NG_012216;NM_003921;XM_005271311 AAC99767;AAD15800;AAD16428;AAD24918;AAD32597;AAD39147;AAF06894;AAH53617;ABN09569;BAF84035;CAA06955;EAW73208;NP_003912;O95999;XP_005271368 Hs.193516 1677436;1795418 BCL10_716;RH98853 CLAP;bcl-10;c-E10;hCLAP;mE10 B-cell lymphoma/leukemia 10;CARD containing molecule enhancing NF-kB;CARD-containing apoptotic signaling protein;CARD-containing molecule enhancing NF-kappa-B;CARD-containing proapoptotic protein;CED-3/ICH-1 prodomain homologous E10-like regulator;OTTHUMP00000011647;OTTHUMP00000036080;cCARMEN;carmen;caspase-recruiting domain-containing protein;cellular homolog of vCARMEN;cellular-E10;ciper;mammalian CARD-containing adapter molecule E10 APPROVED protein-coding ENSG00000142867 HGNC:989 04625 114500;137245;156240;603517;613024 REVIEWED 69214 BCKDK branched chain ketoacid dehydrogenase kinase The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 16 16 16 p11.2 29173915 29178365 - 31119615 31124112 + 31108294 31112791 + 1580863;6480464;8699517;8554872;7240710 11839747;12023963;12477932;1377677;15302860;15489334;15604093;17000644;17353931;1889817;18985028;19913121;20628086;20811636;20877624;21832049;21890473;21988832;2403034;24654937;24816145;8889548 10295 H3BNP3;H3BQP2;H3BS02;H3BTL2;H3BUV3;O14874 ABBA01042078;AC135050;AF026548;AK130145;AK294691;AMYH02031843;BC007363;BC009872;BM679327;BX427330;CH471192;CR542093;NG_033011;NM_001122957;NM_001271926;NM_005881 AAB82714;AAH07363;AAH09872;ABM84613;ABM87863;BAG57850;CAG46890;EAW52160;EAW52161;EAW52162;EAW52163;EAW52164;NP_001116429;NP_001258855;NP_005872;O14874 Hs.513520 1679319;1685063;2109081 BCKDK_9086;RH48904;SHGC-61092 BCKDKD;BDK BCKD-kinase;BCKDHKIN;OTTHUMP00000044996;OTTHUMP00000044997;OTTHUMP00000044998;OTTHUMP00000044999;[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial;branched chain alpha-ketoacid dehydrogenase kinase;branched-chain alpha-ketoacid dehydrogenase kinase protein-coding ENSG00000103507 HGNC:16902 12523 614901;614923 REVIEWED 733985 BCL2A1 BCL2-related protein A1 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q24.3 57189526 57199937 - 80253232 80263643 - 79960890 79971301 - 734640;1580863;2313975;6480464 11733571;17322918 10049353;10198631;10381646;10430908;10454539;10545479;10753914;10849436;11329013;11483855;11696595;11929871;12477932;12665576;12692420;12771180;14747545;14966372;14981542;15489334;15499630;15501771;15592513;15617521;15694340;15696550;16164629;16551634;16572199;16697956;16873269;17121585;17666431;17724464;17726463;17907802;17942758;18093280;18206119;18414982;18512730;18812174;18835031;19336552;19573080;19759007;19773279;19913121;20185581;20353833;20628086;20800603;20855536;21167304;21491422;21832049;21843371;22231730;22292048;22510878;22553204;22615379;22720045;22745672;22865454;23118966;23152563;23447565;23480177;23841872;7478596;8345191;8589678;8605321;8910286;8952545;9050999;9321477;9356461;9670936;9731710 597 Q16548 ABBA01060616;AC015871;AL110097;AMYH02030878;AY234180;BC016281;BG198875;BG204033;BG216703;BT007103;CD640106;CH471136;CR541937;CR541962;HI574046;NG_029487;NM_001114735;NM_004049;U27467;U29680;Y09397 AAC50288;AAC50438;AAH16281;AAO89009;AAP35767;ABM82035;ABM85216;CAA70566;CAG46735;CAG46760;CBX47512;EAW99129;NP_001108207;NP_004040;Q16548 Hs.227817 1662757;1739593;1768623;1769363;1795076;1853733 D10S1618E;PMC97140P1;RH68628;SHGC-35552;SHGC-64943;STS-U27467 ACC-1;ACC-2;BCL2L5;BFL1;GRS;HBPA1 OTTHUMP00000185566;OTTHUMP00000185567;bcl-2-like protein 5;bcl-2-related protein A1;bcl2-L-5;hematopoietic BCL2-related protein A1;hemopoietic-specific early response protein;protein BFL-1 APPROVED protein-coding ENSG00000140379 HGNC:991 03034 601056 REVIEWED 733100 BCL2 B-cell CLL/lymphoma 2 This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq, Jul 2008] 18 18 18 q21.3 57509356 57706116 - 60790579 60987011 - 63123346 63319778 - 734639;1599473;1599477;1599484;1599491;1300048;1580863;1579984;1579980;1579966;2293020;2293059;2293016;2293015;2314140;2293022;2293026;2290557;2293017;2293013;2293014;2289659;2293072;2293078;2313975;2313998;2311240;2298889;2298896;2292908;2292909;2293019;2293073;2292910;2291908;2293018;2293027;2298890;2298897;1643477;2293021;2293065;1643479;6480464;6484113;6907045;7240710;8554863;8547871;8699517 10704489;12167434;12234300;12628841;12810203;15632274;15649569;16289365;16309543;16671111;16826579;16962107;17322918;17404573;17482919;17639989;17693084;17693937;17850375;17908970;18006758;18047955;18076646;18083315;18084610;18093155;18094410;18202171;18217456;18221257;18283311;18317887;18342927;18386458;18427947;18430249;18441466;18561741;18931364;18959742;18991018;3287162 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596 P10415 ABBA01056209;ABBA01056210;ABBA01056211;ABBA01056212;ABBA01056213;ABBA01056214;AC021803;AC022726;AF401211;AI401297;AMYH02034881;AMYH02034882;AMYH02034883;AY220759;BC027258;CH471096;EU287875;FB571387;FB571389;JA362596;JC231886;JC231888;M13994;M13995;M14745;NG_009361;NM_000633;NM_000657;S72602;X06487;XM_006722523;XR_430082 AAA35591;AAA51813;AAA51814;AAD14111;AAH27258;AAL02169;AAO26045;ABM82396;ABM85580;ABX60202;CAA29778;CAR95111;CAR95112;CCA94580;CDM22285;CDM22286;EAW63136;EAW63137;EAW63138;EAW63139;NP_000624;NP_000648;P10415;XP_006722586 Hs.150749 1654828;1656815;1659114;1684750;1704630;1724291;1741705;1742177;1742181;1742183;1742883;1742937;1768581;1775139;1791780;1792102;1792908;1795424;1851618;1853096;2146490 BCL2_50;D18S1264;D18S379;G10613;GDB:182296;GDB:193042;GDB:193086;GDB:193087;GDB:214797;GDB:216623;PMC125347P1;PMC137064P1;PMC16825P1;RH119070;RH47111;RH68699;RH78390;RH91234;SHGC-37391;SHGC-77927;STS-AA007401 Bcl-2;PPP1R50 OTTHUMP00000163680;apoptosis regulator Bcl-2;b-cell leukemia/lymphoma 2;protein phosphatase 1, regulatory subunit 50 APPROVED protein-coding HGNC:990 01045 151430 REVIEWED 1606211 BCL2L12 BCL2-like 12 (proline rich) This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 19 19 19 q13.3 47037733 47046507 + 50168399 50177173 + 49665142 49673916 + 6480464;8554872 11283018;11401436;12477932;12783122;14759258;15489334;15493871;15576332;16344560;16647810;16895478;17081983;17132110;17210792;17384250;17404015;18669646;18769159;18844453;18928586;18930135;18976975;19015929;19376117;19440006;19544381;19617565;19723066;19763795;19903463;19913121;19946888;20628086;20837658;20855536;21152697;21200141;21737576;21906983;21963094;21987572;21988832;22238053;22262180;22431925;22664385;22728012;22747515;23292833;23708917;23790536;23901115;24078567;24250222;24339738 83596 I6LJZ5;I6LJZ6;I6LJZ7;I6LJZ8;I6LJZ9;M0QZM6;M0R1K0;M0R1Z8;Q9HB09 ABBA01032913;AC011495;AF289220;AMYH02036325;BC007724;BC104004;BC104005;BC104006;BI159786;CH471177;FJ868798;FJ868799;FJ868800;FJ868801;FJ868802;FJ868803;FJ911906;FJ911907;FJ911908;HM347053;NM_001040668;NM_001282516;NM_001282517;NM_001282519;NM_001282520;NM_001282521;NM_138639;NR_104200;NR_104201;NR_104202;NR_104203;NR_104204;NR_104205 AAG29495;AAG29496;AAH07724;AAI04005;AAI04006;AAI04007;ACZ28444;ACZ28445;ACZ28448;ACZ28450;ACZ28451;ACZ28452;ADM35972;EAW52514;EAW52515;EAW52516;EAW52517;NP_001035758;NP_001269445;NP_001269446;NP_001269448;NP_001269449;NP_001269450;NP_619580;Q9HB09 Hs.289052 2115343;2169814;2176202 RH18543;SGC33962;STS-H72005 MGC120313;MGC120314;MGC120315 Bcl-2 related proline-rich protein;bcl-2-like protein 12;bcl-2-related proline-rich protein;bcl2-L-12 APPROVED protein-coding ENSG00000126453 HGNC:13787 16543 610837 REVIEWED 9587211 BCL2L12P1 BCL2-like 12 (proline rich) pseudogene 1 3 3 3 q22.1 129671326 129672023 + 131245309 131246006 + 131526465 131527162 + 100289095 ABBA01059194;AC107027;AMYH02007674;NG_022270 pseudo HGNC:51327 INFERRED 1353095 BCL2L10 BCL2-like 10 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008] 15 15 15 q21 29296261 29299399 - 52401490 52404972 - 52109293 52112775 - 1580863;2313975;6480464 17322918 10486928;11278245;11557035;11593390;11689480;12477932;12720100;17532299;18178565;18483366;18835031;19255499;19336552;19551325;19573080;19773279;19913121;20428828;20628086;20855536;20919753;21077739;21166696;21171085;21760590;21890473;22233804;22498477;22577154;23235460;23293224;23563182;25015289;9488720;9829980;9878060 10017 H0YMD5;Q9HD36 ABBA01039067;AC023906;AF285092;AF326964;AJ458330;AMYH02030443;BC093826;BC093828;BC104442;BC104443;CH471082;NM_020396;XM_005254103 AAG00503;AAH93826;AAH93828;AAI04443;AAI04444;AAK48715;CAD30221;EAW77435;NP_065129;Q9HD36;XP_005254160 Hs.283672 2177956;2217066 BCL2L10_3137;STS-R53538 BCL-B;Boo;Diva;MGC129810;MGC129811 OTTHUMP00000162719;anti-apoptotic protein NrH;apoptosis regulator Bcl-B;bcl-2-like protein 10;bcl2-L-10 APPROVED protein-coding ENSG00000137875 HGNC:993 06071 606910 REVIEWED 734299 BCL2L11 BCL2-like 11 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013] 2 2 2 q13 105529086 105576607 + 111878491 111926022 + 111120914 111168445 + 704412;734641;1580863;704413;2314029;6480464 10576740;12388545;19641503;9731710 10198631;10381623;10837489;11050388;11210187;11301022;11435715;11546872;11583631;11734221;11859372;11997495;12019181;12095614;12118373;12198137;12376548;12477932;12486001;12591950;12787561;12818176;12844146;14527951;14555991;14561217;14596824;14676826;14681225;14732682;14764673;14769789;14970329;14996839;15014070;15030401;15096481;15146197;15147734;15193260;15378010;15459900;15486195;15489334;15509554;15653751;15661735;15688014;15694340;15711598;15721256;15728578;15731037;15731089;15767553;15824087;15843898;15899862;15989957;16022280;16051596;16091744;16148027;16183168;16213503;16260615;16282323;16373335;16476732;16478725;16697956;16773715;16810067;16888645;16951744;17051334;17062728;17067554;17074758;17105963;17151701;17158029;17188240;17203211;17207965;17218274;17251431;17276340;17289999;17486061;17499214;17525735;17531220;17538248;17637819;17653091;17686764;17692808;17698840;17716672;17717606;17927446;18006817;18063582;18064628;18089817;18165867;18182577;18195012;18246127;18251703;18345036;18348176;18354037;18391004;18398508;18413764;18420585;18508762;18549468;18651223;18668139;18677096;18715233;18715501;18758461;18806830;18812174;18925930;18949058;18981303;19050264;19052714;19064725;19100522;19101511;19141860;19148187;19150432;19285955;19300516;19305426;19308286;19330811;19332026;19336552;19403302;19407828;19494111;19541822;19573080;19574221;19587239;19622586;19622774;19641506;19737817;19773279;19773546;19805519;19850739;19881544;19893569;19914305;20010785;20066663;20074640;20082325;20086250;20160166;20206402;20231287;20237869;20332261;20348947;20404322;20431602;20697841;20700448;20705940;20819778;20821734;20841506;20855536;20861305;20877573;20878914;20885957;20959405;21041309;21130142;21148306;21148799;21151127;21247487;21333317;21339291;21367852;21375523;21378313;21415216;21478148;21481848;21507240;21533175;21555518;21613222;21625639;21655183;21659544;21671007;21673341;21729544;21732363;21808067;21832049;21899728;21924351;21937453;21958719;21984578;21988832;22071694;22076535;22081075;22093624;22131152;22145099;22160382;22245094;22270368;22349704;22388891;22391963;22426421;22430213;22516966;22572381;22609401;22622039;22628193;22645134;22742832;22762551;22788963;22802411;22819074;22895567;22905229;23012423;23047821;23138847;23152053;23152504;23235460;23243017;23270470;23295054;23301543;23358890;23382048;23394612;23402819;23441183;23500081;23532334;23569333;23633923;23648111;23681223;23737756;23770605;23824909;23851982;23872733;23874387;23908358;23912711;24074954;24223824;24227856;24239173;24263101;24292274;24376685;24425048;24502636;24536031;24596063;24650799;24825889;24850748;24871945;8918887;8929531;9430630;9463381 10018 C9J417;E9PAM9;H7BZE5;O43521 AA854054;AA890664;AB071195;AB071196;AB071197;AB071198;AB071199;AB071200;ABBA01001561;AC096670;AF032457;AF032458;AF086141;AF455755;AI268146;AK027160;AK290377;AK291269;AMYH02004570;AMYH02004571;AW629314;AY305714;AY305715;AY305716;AY352518;AY423441;AY423442;AY423443;AY428962;BC033694;CH471237;CN411912;DQ849200;DQ849201;DQ849202;HI179172;JC747654;NG_029006;NM_001204106;NM_001204107;NM_001204108;NM_001204109;NM_001204110;NM_001204111;NM_001204112;NM_001204113;NM_006538;NM_138621;NM_138622;NM_138623;NM_138624;NM_138625;NM_138626;NM_138627;NM_207002;NM_207003;XM_005263550;XM_005263551;XM_005263552;XM_005263553;XM_005263554;XM_005263555;XM_005263556;XM_005263557;XM_005263559;XM_005263560;XM_005263561;XR_244801;XR_244802;XR_244803;XR_244804 AAC39593;AAC39594;AAH33694;AAL57868;AAQ62569;AAQ82546;AAQ82547;AAQ99148;AAQ99149;AAQ99150;AAR06908;AAT34900;AAY14797;ABI13589;ABI13590;ABI13591;ADQ31938;BAB78589;BAB78590;BAB78591;BAB78592;BAB78593;BAB78594;BAF83066;BAF83958;CBX53894;CEF39446;EAW50364;EAW50365;EAW50366;EAW50367;EAW50369;EAW50370;EAW50371;EAW50372;EAW50373;EAW50374;NP_001191035;NP_001191036;NP_001191037;NP_001191038;NP_001191039;NP_001191040;NP_001191041;NP_001191042;NP_006529;NP_619527;NP_619528;NP_619529;NP_619530;NP_619531;NP_619532;NP_619533;NP_996885;NP_996886;O43521;XP_005263607;XP_005263608;XP_005263609;XP_005263610;XP_005263611;XP_005263612;XP_005263613;XP_005263614;XP_005263616;XP_005263617;XP_005263618 Hs.469658;Hs.737004 1340014;1657550;1678523;1686146 D2S1892;RH91369;RH99076;WI-11737 BAM;BIM;BIM-alpha6;BIM-beta6;BIM-beta7;BOD;BimL;BimS;bcl2-L-11 BimEL;OTTHUMP00000161927;OTTHUMP00000195502;OTTHUMP00000197013;OTTHUMP00000204243;OTTHUMP00000204246;OTTHUMP00000204247;OTTHUMP00000204248;OTTHUMP00000204249;OTTHUMP00000204250;OTTHUMP00000204251;OTTHUMP00000204252;OTTHUMP00000204253;bcl-2 interacting mediator of cell death;bcl-2 interacting protein Bim;bcl-2-like protein 11;bcl-2-related ovarian death agonist;bcl2-interacting mediator of cell death APPROVED protein-coding ENSG00000153094 HGNC:994 04828 603827 REVIEWED 1322422 BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013] 14 14 14 q32.2 79691368 79793512 - 99635624 99738514 - 99169287 99271713 - 1580863;6480464;8554872 10744719;11719382;12196208;12565905;12692243;12930829;15104287;15325104;15668700;15849318;16091750;16809611;16950772;17245431;17308084;17369851;18595722;18768194;19366371;19399189;19454010;19581932;20824091;21060114;21080944;21878675;22067449;22068335;22077140;22245141;22450536;22505724;22700985;22969067;23022380;23040356;23168072;23383087;23527175;23682716;23752268;23803414;23852730;24441149 64919 D3YTK1;L8B567;L8B7P7;L8B862;L8B8F6;Q9C0K0 AB041218;AB041222;AB043584;AB057668;AB057669;AB057670;ABBA01048566;ABBA01048567;AF086271;AJ404614;AL109767;AL162151;AL359681;AMYH02029831;CH471061;FB736423;NG_027894;NM_001282237;NM_001282238;NM_022898;NM_138576 AAI56140;BAB32731;BAM78282;BAM78283;BAM78284;BAM78285;BAM78533;CAC17726;CAX20397;EAW81662;EAW81663;NP_001269166;NP_001269167;NP_075049;NP_612808;Q9C0K0 Hs.709690 1659376;1698748;1751467;1763487;1764387;1799512;1799960;1800000;1800126;1800776;1801104;1801556;1801612;1801678;1802338;1802582;1802648;1802762;1802828;1802884;1802886;1803170;1803228;1803230;1803350;1803380;1803382;1803434;1803682;1803858;1804170;1804172;1804372;1804658;1804742;1805150;1805562;1805638;1807402;1808074;1808482;1809526;1809812;1809938;1809986;1810386;1810388;1810390;1810588;1810658;1810734;1810818;1810892;1810894;1811494;1811670;1812142;1812416;1812694;1812696;1813272;1813274;1813276;1813636;1813704;1814026;1814398;1814970;1815588;1816168;1817348;1817350;1818128;1818776;1819044;1819154;1819296;1819428;1819690;1819766;1820182;1820450;1821108;1821242;1821244;1823222;1823224;1823298;1823382;1823558;1823730;1823852;1824536;1824852;1824924;1825096;1825406;1826034;1826472;1826474;1826740;1826834;1827360;1827442;1827628;1827850;1828412;1828574;1830724;1830822;1831846;1833566;1834242;1835014;1835296;1835332;1835512;1837060;1837380;1837890;1837982;1838560;1838662;1838792;1839130;1839886;1840130;1840760;1840762;1841126;1841730;1842166;1843186;1844124;1844126;1845248;1953650;1953652;1953654;1953656;1953658;1953660;1953662;1953664;1953666;1953668;1953670;1953672;1953674;1953676;1953678;1953680;1953682;1953684;1953686;1953688;1953690;1953692;1953694;1953696;1953698;1953700;1953702;1953704;1953706;1953708;1953710;1953712;1953714;1953716;1953718;1953720;1953722;1953724;1953726;1953728;1953730;1953732;1953734;1953736;1953738;1953740;1953742;1953744;1953746;1953748;1953750;1953752;1953754;1953756;1953758;1953760;1953762;1953764;1953766;1953768;1953770;1953772;1953774;1953776;1953778;1953780;1953782;1953784;1953786;1953788;1953790;1953792;1953794;1953796;1953798;1953800;1953802;1953804;1953806;1953808;1953810;1953812;1953814;1953816;1953818;1953820;1953822;1953824;1953826;1953828;1953830;1953832;1953834;1953836;1953838;1953840;1953842;1953844;1953846;1953848;1953850;1953852;1953854;1953856;1953858;1953860;1953862;1953864;1953866;1953868;1953870;1953872;1953874;1953876;1953878;1953880;1953882;1953884;1953886;1953888;1953890;1953892;1953894;1953896;1953898;1953900;1953902;1953904;1953906;1953908;1953910;1953912;1953914;1953916;1953918;1953920;1953922;1953924;1953926;1953928;1953930;1953932;1953934;1953936;1953938;1953940;1953942;1953944;1953946;1953948;1953950;1953952;1953954;1953956;1953958;1953960;1953962;1953964;1953966;1953968;1953970;1953972;1953974;1953976;1953978;1953980;1953982;1953984;1953986;1953988;1953990;1953992;1953994;1953996;1953998;1954000;1954002;1954004;1954006;1954008;1954010;1954012;1954014;1954016;1954018;1954020;1954022;1954024;1954026;1954028;1954030;1954032;1954034;1954036;1954038;1954040;1954042;1954044;1954046;1954048;1954050;1954052;1954054;1954056;1954058;1954060;1954062;1954064;1954066;1954068;1954070;1954072;1954074;1954076;1954078;1954080;1954082;1954084;1954086;1954088;1954090;1954092;1954094;1954096;1954098;1954100;1954102;1954104;1954106;1954108;1954110;1954112;1954114;1954116;1954118;1954120;1954122;1954124;1954126;1954128;1954130;1954132;1954134;1954136;1954138;1954140;1954142;1954144;1954146;1954148;1954150;1954152;1954154;1954156;1954158;1954160;1954162;1954164;1954166;1954168;1954170;1954172;1954174;1954176;1954178;1954180;1954182;1954184;1954186;1954188;1954190;1954192;1954194;1954196;1954198;1954200;1954202;1954204;1954206;1954208;1954210;1954212;1954214;1954216;1954218;1954220;1954222;1954224;1954226;1954228;1954230;1954232;1954234;1954236;1954238;1954240;1954242;1954244;1954246;1954248;1954250;1954252;1954254;1954256;1954258;1954260;1954262;1954264;1954266;1954268;1954270;1954272;1954274;1954276;1954278;1954280;1954282;1954284;1954286;1954288;1954290;1954292;1954294;1954296;1954298;1954300;1954302;1954304;1954306;1954308;1954310;1954312;1954314;1954316;1954318;1954320;1954322;1954324;1954326;1954328;1954330;1954332;1954334;1954336;1954338;1954340;1954342;1954344;1954346;1954348;1954350;1954352;1954354;1954356;1954358;1954360;1954362;1954364;1954366;1954368;1954370;1954372;1954374;1954376;1954378;1954380;1954382;1954384;1954386;1954388;1954390;1954392;1954394;1954396;1954398;1954400;1954402;1954404;1954406;1954408;1954410;1954412;1954414;1954416;1954418;1954420;1954422;1954424;1954426;1954428;1954430;1954432;1954434;1954436;1954438;1954440;1954442;1954444;1954446;1954448;1954450;1954452;1954454;1954456;1954458;1954460;1954462;1954464;1954466;1954468;1954470;1954472;1954474;1954476;1954478;1954480;1954482;1954484;1954486;1954488;1954490;1954492;1954494;1954496;1954498;1954500;1954502;1954504;1954506;1954508;1954510;1954512;1954514;1954516;1954518;1954520;1954522;1954524;1954526;1954528;1954530;1954532;1954534;1954536;1954538;1954540;1954542;1954544;1954546;1954548;1954550;1954552;1954554;1954556;1954558;1954560;1954562;1954564;1954566;1954568;2108707;2144356;2212280;2212282;2212284;2212286;2212288;2212290;2212292;2212294;2212296;2212298;2212300;2212302;2212304;2212306;2212308;2212310;2212312;2212314;2212316;2212318;2212320;2212322;2212324;2212326;2212328;2212330;2212332;2212334;2212336;2212338;2212340;2212342;2212344;2212346;2212348;2212350;2212352;2212354;2212356;2212358;2212360;2212362;2212364;2212366;2212368;2212370;2212372;2212374;2212376;2212378;2212380;2212382;2212384;2212386;2212388;2212390;2212392;2212394;2212396;2212398;2212400;2212402;2212404;2212406;2212408;2212410;2212412;2212414;2212416;2212418;2212420;2212422;2212424;2212426;2212428;2212430;2212432;2212434;5096437 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EN48106;REN48107;REN48108;REN48109;REN48110;REN48111;REN48112;REN48113;REN48114;REN48115;REN48116;REN48117;REN48118;REN48119;REN48120;REN48121;REN48122;REN48123;REN48124;REN48125;REN48126;REN48127;REN48128;REN48129;REN48130;REN48131;REN48132;REN48133;REN48134;REN48135;REN48136;REN48137;REN48138;REN48139;REN48140;REN48141;REN48142;RH102937;RH66257;SHGC-105284;SHGC-147186;SHGC-147980;SHGC-57955;WI-19381;stSG632077;stSG632078;stSG632079;stSG632080;stSG632083;stSG632084;stSG632085;stSG632086;stSG632087;stSG632088;stSG632089;stSG632090;stSG632091;stSG632092;stSG632093;stSG632094;stSG632095;stSG632096;stSG632097;stSG632098;stSG632099;stSG632100;stSG632101;stSG632102;stSG632103;stSG632104;stSG632105;stSG632106;stSG632107;stSG632108;stSG632109;stSG632110;stSG632111;stSG632112;stSG632114;stSG632115;stSG632116;stSG632117;stSG632118;stSG632119;stSG632120;stSG632121;stSG632122;stSG632123;stSG632124;stSG632125;stSG632126;stSG632127;stSG632128;stSG632129;stSG632130;stSG632131;stSG632132;stSG632133;stSG632134;stSG632135;stSG632136;stSG632137;stSG632138;stSG632139;stSG632140;stSG632141;stSG632142;stSG632143;stSG632145;stSG632146;stSG632147;stSG632148;stSG632149;stSG632150;stSG632151;stSG632152;stSG632153;stSG632154;stSG632156;stSG632158;stSG632161;stSG632163 ATL1;ATL1-alpha;ATL1-beta;ATL1-delta;ATL1-gamma;BCL-11B;CTIP-2;CTIP2;RIT1;ZNF856B;hRIT1-alpha;hRit1 ATL1 zinc finger protein;ATL1-alpha zinc finger protein;ATL1-beta zinc finger protein;ATL1-delta zinc finger protein;ATL1-gamma zinc finger protein;B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein;B-cell lymphoma/leukaemia 11B;B-cell lymphoma/leukemia 11B;BCL11B/TRDC fusion;COUP-TF-interacting protein 2;OTTHUMP00000067186;OTTHUMP00000067187;radiation-induced tumor suppressor gene 1 protein;zinc finger protein hRit1 alpha APPROVED protein-coding ENSG00000127152 HGNC:13222 05950 606558 REVIEWED 1352362 BCL2L2 BCL2-like 2 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010] 14 14 14 q11.2-q12 3638729 3643685 + 23775971 23790241 + 23306762 23311759 + 1580863;2313963;2313975;6480464 17322918;18817839 10381646;10737800;11152643;11423909;11483855;11546872;12115603;12477932;12651847;12660157;12952938;15147516;15342556;15489334;15694340;15790807;16344560;16475813;16697956;17289999;17306351;17459056;18692484;19097687;19114998;19124064;19141860;19322201;19336552;19369647;19451595;19573080;19654003;19913121;20062536;20213841;20501806;20510331;20515870;20575554;20628086;20696142;20736132;20808289;20819778;20855536;20959405;21060336;21822301;21947305;22000515;22138435;22570867;22780970;22850539;23337879;23369735;23708561;24491548;24747052;24946210;24999239;8761287;9039502;9430630;9500547;9731710 599 G3V3B7;G3V3G8;G3V4B7;G3V5A9;H0YJC7;Q92843 AA524030;AA741032;ABBA01061318;AK289519;AL049829;AMYH02028869;BC021198;BC104789;BC113522;BP216712;BQ001111;BQ359913;BT019549;CH471078;D87461;DA196433;DA288957;DA451936;NM_001199839;NM_004050;U59747 AAB09055;AAH21198;AAI04790;AAI13523;AAV38356;ADR82846;BAA19666;BAF82208;EAW66169;NP_001186768;NP_004041;Q92843 Hs.410026;Hs.735863 1687968;1795422;2190525;2191727 BCL2L2_718;EST16D6;MARC_5753-5754:996690790:1;RH75103 BCL-W;BCL2-L-2;BCLW;KIAA0271;PPP1R51 BCL2-like 2 protein;OTTHUMP00000027940;OTTHUMP00000246228;OTTHUMP00000246229;apoptosis regulator BCL-W;bcl-2-like protein 2;protein phosphatase 1, regulatory subunit 51 APPROVED protein-coding ENSG00000129473 HGNC:995 03569 601931 REVIEWED 1320527 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p16.1 60521903 60624215 - 60678302 60780633 - 60451167 60553498 - 1580863;6480464;8554872 10744719;10757802;11161790;11347906;11719382;11830502;11986957;12477932;14702039;15489334;15639232;16091750;16147992;16704730;16871282;17672918;17767159;18245381;18667698;18681895;18691915;18714373;18854154;18948576;19020323;19056937;19153051;19369625;19616629;19657335;19670153;19696200;19720844;19833888;19862010;19913121;20018918;20075150;20183929;20379614;20395365;20472475;20542454;20575024;20578197;20581827;20623620;20628086;20889853;21068433;21157349;21267535;21326311;21493818;21832049;21864053;21890473;21988832;22012869;22094256;22113416;22258351;22271886;22505724;22675500;22739175;22936743;23094636;23209159;23222517;23223429;23406172;23438597;23541515;23576758;23646285;23752268;23758992;23777413;23975195;24115442;24502199;9847074 53335 B4DT16;D6W5D9;D9YZV9;Q9H165 AB058712;ABBA01075329;ABBA01075330;ABBA01075331;ABBA01075332;AC007381;AC009970;AF080216;AJ404611;AJ404612;AJ404613;AK001035;AK055251;AK092316;AK297507;AK300012;AMYH02003909;AY228763;AY692278;BC021098;BG393787;CH471053;GU324936;GU324937;JN852960;NG_011968;NM_018014;NM_022893;NM_138559 AAG49025;AAH21098;AAO88272;AAU04557;AAX93205;AAY14784;ABZ92151;ABZ92337;ADL14507;ADL14508;AEV45616;BAB47438;BAG51490;BAG52530;BAG59920;BAG61828;CAC17723;CAC17724;CAC17725;EAX00035;EAX00036;EAX00037;EAX00038;EAX00039;EAX00040;EAX00041;NP_060484;NP_075044;NP_612569;Q9H165 Hs.370549 1334890;1643959;1658750;1664458;1682595;1683978;1719407;1788800;1791157;2187267;2218304 BCL11A_4045;D2S1422;D2S2198;G34992;RH123484;RH138170;RH45041;RH70463;RH80326;RH94052;UniSTS:258468 BCL-11A;BCL11A-L;BCL11A-S;BCL11A-XL;BCL11a-M;CTIP1;EVI-9;EVI9;FLJ10173;FLJ34997;HBFQTL5;KIAA1809;ZNF856 B-cell CLL/lymphoma 11A (zinc finger protein) isoform 2;B-cell lymphoma/leukemia 11A;BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1;C2H2-type zinc finger protein;COUP-TF-interacting protein 1;OTTHUMP00000159788;OTTHUMP00000159789;OTTHUMP00000201250;OTTHUMP00000202083;OTTHUMP00000202084;OTTHUMP00000202085;ecotropic viral integration site 9 homolog;ecotropic viral integration site 9 protein homolog;zinc finger protein 856 APPROVED protein-coding ENSG00000119866 HGNC:13221 05949 606557 REVIEWED 1315911 BCL2L13 BCL2-like 13 (apoptosis facilitator) This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 22 22 22 q11.1 1741236 1831699 + 18111621 18213621 + 17638112 17730855 + 1580863;6480464 10591208;11262395;11381032;12477932;12527362;14702039;15146197;15461802;15489334;16189266;16189514;16344560;17081983;17360363;17974005;18519826;18669648;19064571;19643727;20068093;20109966;20179162;20237496;20379614;20713527;20855536;20877624;21139048;21832049;21890473;21906983;22921587;24706805 23786 A8K5Y4;B7Z238;B7Z737;E9PDD6;F2Z2C3;H0Y3R5;Q86T62;Q8IZP5;Q9BXK5 ABBA01001432;ABBA01001433;ABBA01001434;ABBA01001435;ABBA01001436;ABBA01001437;ABBA01001438;AC006285;AF086412;AF146568;AF183411;AF246665;AF325209;AF539453;AK027443;AK056248;AK075044;AK291449;AK294286;AK301394;AK314489;AL133029;AL831982;AMYH02038008;AMYH02038009;AMYH02038010;AMYH02038011;AMYH02038012;AMYH02038013;BC003032;BC007658;BC016037;BE900458;BI560132;BX354578;BX407004;CH471193;CN420914;CR456521;DA154984;DA169152;DA478149;DA799358;DC341613;NM_001270726;NM_001270727;NM_001270728;NM_001270729;NM_001270730;NM_001270731;NM_001270732;NM_001270733;NM_001270734;NM_001270735;NM_015367;NR_073068;NR_073069;XM_006724075;XM_006724076;XR_430391 AAF03602;AAG09680;AAH07658;AAH16037;AAK15150;AAK27358;AAN10130;ABM84173;ABM87575;BAF84138;BAG37090;BAG51659;BAH11724;BAH13473;CAB61361;CAD89976;CAG30407;CAK54552;CAK54851;EAW57766;EAW57767;EAW57768;NP_001257655;NP_001257656;NP_001257657;NP_001257658;NP_001257659;NP_001257660;NP_001257661;NP_001257662;NP_001257663;NP_001257664;NP_056182;Q9BXK5;XP_006724138;XP_006724139 Hs.631672 1647977;1700730;1788968;2144620;2153622;5019835;5124656 A010A02;D22S1246;G33035;G65560;RH103990;RH11337;RH48192 BCL-RAMBO;Bcl2-L-13;MIL1 OTTHUMP00000196198;OTTHUMP00000196199;OTTHUMP00000196200;OTTHUMP00000233719;bcl-2-like protein 13 APPROVED protein-coding ENSG00000099968 HGNC:17164 09822 REVIEWED 1603456 BCL2L15 BCL2-like 15 INVOLVED IN apoptotic process (inferred); FOUND IN cytosol (inferred); nucleus (inferred); INTERACTS WITH cadmium dichloride; zinc atom; zinc(0) 1 1 1 p13.2 112648655 112659386 - 114419436 114430230 - 113876814 113887608 - 6480464 12477932;12700646;15489334;15961081;16690252;16710414;17412810;23535729 440603 I6LA81;Q5TBC7 ABBA01068458;AI821052;AK026241;AK289439;AL137856;AMYH02001776;AY265861;AY265862;AY265863;AY265864;BC127719;BC127720;BC132904;BC132906;BX116361;CR749373;NM_001010922;XM_005270877 AAI27720;AAI27721;AAP93855;AAP93856;AAP93857;AAP93858;BAF82128;CAH18226;NP_001010922;Q5TBC7;XP_005270934 Hs.123106 1685399;5014051;5016700;5022200;5022651;5037552;5117897 D11S2921;D8S2278;D8S2279;GDB:631813;L18426;RH79802;RH98904 Bfk;C1orf178;FLJ22588 OTTHUMP00000013724;OTTHUMP00000213302;bcl-2-like protein 15;bcl2-L-15;pro-apoptotic Bcl-2 protein protein-coding HGNC:33624 16920 VALIDATED 5507955 BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] 14 14 q 23775971 23795394 + 23306762 23326185 + 6480464;8554872 12477932;20967262;21890473;21906983;23000965 100529063 ABBA01061318;ABBA01061319;ABBA01061320;AL049829;AMYH02028869;BC011637;NM_001199864 NP_001186793 Hs.707712 1690290;2138799;2191547;5022232 MARC_26170-26171:1030649367:1;RH47139;RH65111;SHGC-57254 OTTHUMP00000246232;OTTHUMP00000246234 protein-coding HGNC:42959 REVIEWED 735516 BCL2L1 BCL2-like 1 The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 27008611 27067007 - 30252261 30311752 - 31664452 31723955 - 1300048;1580863;1579980;1579966;1643478;1643480;1643492;1643477;1643481;1643482;1643483;1643491;1643493;1643525;2292685;1643474;1643476;1643479;1643494;2314140;2313975;2292910;6480464;6484113;6907045 12025227;15632274;15717629;16850344;16886624;16962107;17224795;17311011;17322918;17467744;17640403;17653717;17675586;17700647;17706879;17870134;18047955;18342927;18959742 10049775;10075695;10085290;10195903;10198631;10217402;10330179;10365962;10446169;10467396;10467399;10620799;10625696;10679027;10713718;10716992;10737788;10802717;10807576;10837489;10891504;10949025;11044452;11054413;11060313;11077446;11123279;11126360;11175750;11206074;11278245;11279541;11283018;11342619;11423909;11437653;11463391;11463392;11483855;11494146;11574549;11583631;11696595;11714801;11733517;11739707;11742726;11756417;11780052;11788897;11801602;11815602;11832478;11859372;11883953;11911810;11941452;11964315;11965035;11971963;11994280;12000759;12011449;12046686;12070027;12079401;12108390;12115603;12137781;12161031;12186923;12198137;12204872;12209955;12214154;12244097;12372300;12381725;12387875;12439925;12477932;12510191;12515824;12553012;12579342;12592339;12594175;12637494;12667443;12721288;12738789;12767928;12783855;12810626;12815463;12853473;12855666;12901880;12937123;12963020;12969962;14502257;14520471;14573608;14596824;14625274;14631373;14656874;14656879;14668940;14735465;14739602;14752512;14764594;14960327;14963330;14980220;15006356;15030396;15034060;15077116;15079071;15124764;15131699;15156398;15179366;15231831;15292226;15292519;15323553;15353804;15375594;15385505;15459189;15459197;15477204;15489334;15574335;15625014;15625897;15637055;15638362;15638369;15653751;15657349;15657350;15694340;15694358;15705582;15721256;15722788;15725478;15733859;15767554;15770735;15782132;15827323;15837790;15870695;15901672;15961228;16048439;16052512;16077903;16081848;16085054;16085058;16148096;16151013;16189514;16192647;16204228;16253528;16260615;16282323;16368107;16403219;16492678;16572289;16572323;16603546;16608847;16632475;16650855;16684963;16697956;16723699;16773221;16790528;16794010;16810067;16815550;16835272;16850161;16928273;16959370;16983335;17046835;17110373;17209561;17227835;17237249;17272823;17274640;17289999;17301078;17311927;17369848;17384650;17404017;17418785;17428862;17439414;17457084;17492131;17519046;17525735;17534896;17633465;17652760;17657164;17659302;17673921;17699158;17803695;17873279;17880809;17893147;17911582;17923112;17923691;17927446;17942397;18051367;18069888;18079751;18088462;18171672;18182854;18196538;18216295;18220834;18250306;18262222;18285708;18299329;18309324;18428028;18494061;18511705;18534987;18543286;18566606;18568767;18580065;18590823;18594472;18609706;18628207;18636124;18641390;18718060;18768389;18775810;18786178;18806875;18813778;18818203;18820703;18835031;18843207;18974096;19008458;19020723;19043455;19049976;19060904;19064571;19165861;19180116;19199036;19211554;19212627;19219602;19220664;19236754;19242522;19317621;19336552;19395874;19397698;19439449;19459857;19467764;19475409;19520842;19530162;19567200;19573080;19587033;19634140;19667065;19670908;19692168;19713971;19723045;19763917;19767770;19773279;19797069;19820711;19834061;19838163;19878271;19883274;19916559;19917720;19948828;19955567;20045442;20048149;20051518;20063052;20090905;20100468;20106970;20140092;20178603;20192224;20203691;20213502;20223826;20308427;20331635;20347499;20363734;20400521;20453000;20468060;20507983;20554038;20580954;20581863;20628624;20661931;20673843;20728382;20803149;20818434;20855536;20858890;21033220;21080944;21139048;21148306;21173168;21187157;21203533;21226954;21256112;21277008;21292770;21320495;21339291;21367852;21396851;21399876;21424121;21458670;21527247;21533126;21567405;21589877;21639858;21656147;21659544;21669490;21674052;21674599;21726118;21840391;21852238;21854985;21856303;21863213;21887277;21890473;21900206;21906983;21952639;21971866;21980434;21988832;22009326;22072718;22084435;22098591;22099018;22119486;22127243;22138435;22141411;22158966;22160868;22197371;22211240;22213163;22219388;22235227;22240664;22267549;22354970;22393362;22403404;22433870;22440396;22440942;22454513;22464442;22486615;22515821;22522453;22552851;22589539;22609401;22617334;22627140;22670675;22685558;22686245;22705850;22729867;22732506;22797576;22884477;22892098;22898820;22933114;22949227;22960132;22987535;23000965;23013270;23028682;23051936;23064052;23079612;23091012;23171055;23243017;23275004;23292448;23333404;23369735;23382671;23392805;23442864;23475955;23519249;23562578;23573264;23708869;23756231;23798675;23802633;23812727;23823868;23828460;23887890;23908595;23954445;23960074;23977882;24038028;24050266;24055032;24091677;24116174;24217227;24217388;24297914;24313893;24491557;24508256;24650799;24808369;24814347;24816145;24982172;24999239;25025927;7540278;7644501;7650367;7834748;8358789;8596636;8692274;8929532;9020082;9027312;9027313;9111042;9130713;9153240;9184696;9192670;9305851;9326610;9334338;9372935;9388232;9389483;9393856;9430630;9435230;9488720;9525867;9539746;9660918;9675101;9727492;9731710;9742125;9765397;9824152;9843949;9973195 598 Q07817;Q5QP56;Q5QP59;Q5TE63;Q5TE64;Q9H1R6 ABBA01019297;ABBA01019298;ABBA01019299;ABBA01019300;ABBA01019301;AK290968;AL117381;AL160175;AMYH02036905;AMYH02036906;AMYH02036907;AY263335;AY263336;AY263337;BC019307;BT007208;BX647525;CH471077;CR936637;FB721215;FB725892;HI574024;HI574026;NG_029002;NM_001191;NM_138578;U72398;XM_005260481;XM_005260482;XM_005260483;XM_005260484;XM_005260485;XM_005260486;XM_005260487;XM_006723843;XM_006723844;XM_006723845;Z23115;Z23116 AAB17354;AAH19307;AAP22027;AAP22028;AAP22029;AAP35872;ABM84387;ABM87310;BAF83657;CAA80661;CAA80662;CAI56777;CAT03369;CAT03400;CBX47501;CBX47502;EAW76424;EAW76425;EAW76426;EAW76427;EAW76428;EAW76429;NP_001182;NP_612815;Q07817;XP_005260538;XP_005260539;XP_005260540;XP_005260541;XP_005260542;XP_005260543;XP_005260544;XP_006723906;XP_006723907;XP_006723908 Hs.516966 1687343;1777427;1793280;1793718;1793856;1794898;1794900;1795054;1795056;1795058;1795420;5016400;5017825;5019401 BCL2L1;BCL2L1_1568;D17S2108;PMC156147P6;PMC20354P5;PMC262691P2;PMC300830P1;PMC84055P1;PMC84055P2;PMC92563P1;PMC92563P2;PMC92563P3;RH25072;Z94537 BCL-XL/S;BCL2L;BCLX;BCLXL;BCLXS;Bcl-X;DKFZp781P2092;PPP1R52;bcl-xL;bcl-xS OTTHUMP00000030550;OTTHUMP00000030551;OTTHUMP00000030552;OTTHUMP00000030553;OTTHUMP00000030555;OTTHUMP00000030556;OTTHUMP00000030557;apoptosis regulator Bcl-X;bcl-2-like protein 1;bcl2-L-1;protein phosphatase 1, regulatory subunit 52 APPROVED protein-coding ENSG00000171552 HGNC:992 02497 600039 REVIEWED 1344720 BCL5 B-cell CLL/lymphoma 5 2682663;8400234 603 HGNC:1000 151441 1603380 BCL2L14 BCL2-like 14 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009] 12 12 12 p13-p12 17366919 17395671 + 12223873 12252629 + 12070944 12099695 + 2315712;6480464;8554872 14999772 11054413;11896457;12136098;12440815;12477932;15284860;15489334;16484005;17280616;17557568;18006276;18029348;19524489;19671159;19913121;20379614;20628086;20677014;20855536;21550398;22573796;23077088;8125298 79370 C9J3S1;C9K0Q9;K7EKK7;K7EMX4;Q9BZR8 ABBA01067828;ABBA01067829;AC007537;AF281254;AF281255;AJ329005;AK000127;AK026440;AK223415;AK292995;AMYH02026048;AX174783;AY040274;BC025778;BC038742;CH471094;HC679613;NG_029375;NM_030766;NM_138722;NM_138723;XM_006719151 AAG59793;AAG59794;AAH25778;AAK72109;BAD97135;BAF85684;CAC43798;CBL93958;EAW96247;EAW96248;EAW96249;EAW96250;EAW96251;NP_110393;NP_620048;NP_620049;Q9BZR8;XP_006719214 Hs.210343;Hs.734567 1661982;1797314;2187605;2217568;5037552 BCLG_1767;D8S2279;LRP6_4011;WI-16673;WI-18051 BCLG OTTHUMP00000215698;OTTHUMP00000215700;apoptosis facilitator Bcl-2-like protein 14;apoptosis regulator BCL-G;bcl2-L-14 APPROVED protein-coding ENSG00000121380 HGNC:16657 05841 606126 REVIEWED 1319851 BCL7A B-cell CLL/lymphoma 7A This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.13 122097731 122138585 + 122459861 122499950 + 122021955 122062044 + 6480464 12477932;14743216;15489334;15897551;18663754;19336552;19573080;19773279;20360068;20460684;20562864;21145461;21890473;22856870;23043359;24026423;24250222;24816145;8605326;9931421 605 Q4VC05 ABBA01020197;ABBA01020198;AC069503;AC145420;AC156455;AK296159;AK316486;AMYH02027407;AMYH02027408;AMYH02027409;AMYH02027410;BC094723;BC113627;BM801030;CH471054;NM_001024808;NM_020993;X89984 AAH94723;AAI13628;ADR82878;BAG58898;BAH14857;CAA62011;EAW98301;EAW98302;NP_001019979;NP_066273;Q4VC05 Hs.530970 1699300;1720553;1746355;1758221;1782646;1795428;2125142;5125068 BCL7A_1791;G59230;G64631;RH103236;RH67957;RH80875;SHGC-147729;SHGC-149267 BCL7 B-cell CLL/lymphoma 7 protein family member A;B-cell CLL/lymphoma-7;OTTHUMP00000239804;OTTHUMP00000239805 APPROVED protein-coding HGNC:1004 03243 601406 REVIEWED 1349060 BCL6B B-cell CLL/lymphoma 6, member B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene; 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 17 17 17 p13.1 6951874 6958520 + 6926368 6933609 + 7023050 7029642 + 1580863;6480464;8554872 10965127;11855826;12477932;12659862;14702039;1505991;15489334;1946370;21917650;22279058;24191714;24250222;9632807 255877 A8KA13;H0YGW0;I3L304;I3L396;Q8N143 AB076580;AB076581;ABBA01054846;AC040977;AK024695;AK122893;AK292878;AK293102;AMYH02032882;BC059404;CH471108;M88371;NM_181844 AAA61329;AAH59404;ABZ92123;BAC00962;BAC00963;BAF85567;BAF85791;BAG53785;EAW90273;EAW90274;NP_862827;Q8N143 Hs.22575 1778268;1848015 AF021126;WI-13656 BAZF;ZBTB28;ZNF62 B-cell CLL/lymphoma 6 member B protein;B-cell CLL/lymphoma 6, member B (zinc finger protein);bcl6-associated zinc finger protein;zinc finger protein 62 APPROVED protein-coding ENSG00000161940 HGNC:1002 16414 608992 VALIDATED 9587190 BCL9P1 B-cell CLL/lymphoma 9 pseudogene 1 5 5 5 63930373 63932933 + 66932210 66934770 + 67636382 67638942 + 100419324 ABBA01048304;AC112206;AMYH02011451 pseudo HGNC:51328 MODEL 1314971 BCL3 B-cell CLL/lymphoma 3 This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008] 19 19 19 q13.1-q13.2 42056341 42067659 + 45246070 45263301 + 44742817 44760044 + 1580863;6480464;6484113;8699517 10362352;10469655;10497212;10607713;11387332;11485202;11707390;12456498;12477932;12730195;12808109;1406939;14678988;1501714;15105810;15469820;15489334;15634875;15829968;16099425;16108830;16123212;16280327;16306601;16311697;16331275;16384933;16732314;16940298;17272867;17495977;17644518;17881446;17923499;17962807;17963943;18025803;18796561;18940474;19191868;19229118;1923524;19282837;19383626;19451226;19494302;19617629;19806201;19893491;19913121;19936222;20226764;20414006;20471052;20547759;20558726;20572854;20601676;20634891;20658525;20672350;20731879;20737317;20800578;20974051;21048031;2124350;2180580;21912613;21988832;22580608;22782967;23115114;23149915;23494744;23534762;23565137;23607276;23669365;23794716;23898208;24130828;24867235;7691160;7896265;8196632;8330739;8428580;8453667;8497270;9218802;9407099;9576921;9812988 602 H7C0A2;P20749 ABBA01040882;AC092066;AK296180;AK309453;AMYH02036179;AMYH02036180;BC064993;BU501187;CH471126;M31731;M31732;NM_005178;XM_005259129;Z15098 AAA51815;AAA51816;AAH64993;BAH12275;EAW57291;NP_005169;P20749;XP_005259186 Hs.31210 1689789;1741941;1792824;1795426;1851782;5122599 BCL3_1822;GDB:186920;PMC164841P1;RH75793;RH78499;STS-M31732 BCL-3;BCL4;D19S37 B-cell leukemia/lymphoma 3;B-cell lymphoma 3 protein;B-cell lymphoma 3-encoded protein;OTTHUMP00000200151;OTTHUMP00000200152;chronic lymphatic leukemia protein;proto-oncogene BCL3 APPROVED protein-coding ENSG00000069399 HGNC:998 00179 109560 REVIEWED 9587273 BCLAF1P1 BCL2-associated transcription factor 1 pseudogene 1 5 5 5 q22.1 106227903 106232656 - 110281972 110286725 - 110946273 110951026 - 728366 ABBA01069074;AC010395;AMYH02011963;NG_005782 pseudo HGNC:51329 INFERRED 1315830 BCL9 B-cell CLL/lymphoma 9 BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008] 1 1 1 q21 121885985 121970836 - 147013222 147098022 + 147541401 147626219 + 1580863;6480464;8554872 10602418;11955446;12047235;12477932;14612447;15146197;15294866;15302935;16344560;17052462;17113272;18187620;18347063;18498752;18789482;19322201;19328798;19715304;19738061;19913121;20379614;20628086;20637214;21383261;22024689;22914623;23382809;24025145;24419084;24550385;24599134;9490669 607 O00512;Q1JQ81 ABBA01004401;AC242628;AL359207;AL590667;AW104430;BC116451;CH471223;CN281037;CN281038;DA593760;HI574316;NM_004326;XM_005272971;XM_005277417;XM_005277418;XM_006711483;Y13620 AAI16452;CAA73942;CAI15198;CBX47647;EAW50932;EAW50933;NP_004317;O00512;XP_005273028;XP_005277474;XP_005277475;XP_006711546 Hs.415209 1689813;1715867;1756505;1774865;1795432;2189325;5022689 AL009676;BCL9;BCL9_52;MARC_1017-1018:991929864:1;RH119628;RH41927;SHGC-143527 LGS;MGC131591;bcl-9 B-cell CLL/lymphoma 9 protein;B-cell lymphoma 9 protein;OTTHUMP00000015909;protein legless homolog APPROVED protein-coding ENSG00000116128 HGNC:1008 04000 602597 REVIEWED 1319642 BCL6 B-cell CLL/lymphoma 6 The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 3 3 3 q27 185870167 185894514 - 187439165 187463513 - 187721377 187745725 - 1600111;1580863;6480464;6484113 11821949 10490843;10601358;10611298;10898795;11175338;11342629;11854457;11865059;11911418;11914273;11920179;11929873;11994280;12004059;12097386;12165517;12217802;12389616;12393409;12402037;12413700;12469325;12477932;12477975;12507907;12515714;12518453;12555064;12562237;12590135;12659862;12775568;12835729;12860928;12879322;12881702;12970571;14551142;14654791;14655758;14690607;14702039;15004558;15024721;1505991;15146197;15191563;15202519;15277222;15339680;15377470;15454082;15509806;15531890;15577913;15609396;15849194;16094416;16125304;16142238;16147992;16194898;16249378;16264183;16344560;16455075;16489068;16704730;16728698;16733207;16766263;16772602;16773719;16815642;16819511;16896311;16943429;17151114;17210865;17296585;17360630;17392284;17403935;17468402;17476282;17542409;17545502;17558410;17576390;17594153;17625604;17635238;17689208;17785208;17828269;17889713;17989715;17989722;18029348;18166802;18203018;18212045;18256039;18280243;18346918;18354204;18487509;18494554;18500267;18604721;18636124;18660489;18675787;18676680;18776761;18801072;19052359;19121354;19141860;19170196;19236753;19268365;19307668;19336552;19337254;19367498;19379553;19448593;1946370;19465899;19487462;19525926;19549844;19564417;19573080;19575892;19625176;19631565;19656156;19692168;19701248;19773279;19787248;19797315;19797429;19797725;19816083;19855081;19925052;19965633;19966776;20032416;20124477;20160358;20175752;20237496;20299965;20348878;20379614;20385356;20453000;20547840;20557674;20630860;20733034;20807888;20830719;20935202;20959405;20966935;20981461;21048031;21055028;21092586;21390126;21424034;21509594;21623692;21725042;21783402;21785430;21788950;21855110;21906983;21911423;21988858;22113614;22124122;22158496;22204827;22395507;22427637;22451912;22493480;22649468;22668559;22797727;22833560;22893614;22968395;22994707;23042398;23166356;23269799;23284291;23335369;23348205;23476051;23509938;23534349;23708665;23716595;23749188;23817569;23817571;23852366;23898208;23911289;23954399;23974956;24009228;24114011;24146931;24220798;24678684;24767250;24863065;24878528;7639334;7795234;7795255;8220427;8235596;8274736;8274740;8506375;8618933;8692924;8758205;9047392;9110977;9135990;9171827;9311010;9380707;9624052;9627120;9632807;9649500;9753732;9765306;9927193 604 B5B0A5;C9JCS5;C9JL16;P41182 ABBA01058367;AC072022;AF240680;AI624861;AK090890;AK304325;AK308162;AMYH02008368;AMYH02008369;AW337942;AW470156;BC142705;BC146796;BC150184;BX649185;CH471052;CN401512;DB025893;DB079847;EU139066;EU883531;M88362;NG_007149;NM_001130845;NM_001134738;NM_001706;S67779;U00115;XM_005247694;Z21943;Z79581 AAA61320;AAC50054;AAI42706;AAI50185;ABX45135;ACG60659;BAG65174;CAA79937;CAE46203;EAW78140;EAW78141;NP_001124317;NP_001128210;NP_001697;P41182;XP_005247751 Hs.478588 1661104;1674103;1792134;1793922;1850777;1852456;2131338;2167935;2172777;2176950;5095000 BCL6;PMC137537P1;PMC309637P2;RH47862;RH69801;RH70520;SHGC-34056;SHGC-64334;SHGC-77610;SHGC-77640;STS-W46183 BCL-5;BCL-6;BCL5;BCL6A;LAZ3;ZBTB27;ZNF51 B-cell lymphoma 5 protein;B-cell lymphoma 6 protein;B-cell lymphoma 6 protein transcript;OTTHUMP00000209895;OTTHUMP00000209897;OTTHUMP00000209900;cys-his2 zinc finger transcription factor;lymphoma-associated zinc finger gene on chromosome 3;protein LAZ-3;zinc finger and BTB domain-containing protein 27;zinc finger protein 51;zinc finger transcription factor BCL6S APPROVED protein-coding ENSG00000113916 HGNC:1001 00180 109565 REVIEWED 1318207 BCL7C B-cell CLL/lymphoma 7C This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 16 16 16 p11 29392347 29398624 + 30845373 30905852 - 30834041 30894302 - 6480464;8554872 12477932;15302935;15345747;15489334;17081983;17207965;18809673;19336552;19471022;19573080;19759913;19773279;21832049;23275444;8605326;9931421 9274 I3L1Q2;I3L4D5;Q8WUZ0 ABBA01042062;ABBA01042063;ABBA01042064;ABBA01042065;ABBA01042066;ABBA01042067;AC135048;AC138417;AJ223980;AMYH02031832;AMYH02031833;AMYH02031834;AMYH02031835;BC019071;BC058863;BG055884;CH471192;NM_001286526;NM_004765 AAH19071;AAH58863;ADQ32980;ADZ15675;CAA11754;EAW52193;NP_001273455;NP_004756;Q8WUZ0 Hs.658547 2124748 D16S3338 B-cell CLL/lymphoma 7 protein family member C;OTTHUMP00000163247;OTTHUMP00000163248 APPROVED protein-coding ENSG00000099385 HGNC:1006 05787 605847 REVIEWED 1349003 BCL7B B-cell CLL/lymphoma 7B This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010] 7 7 7 q11.23 68428601 68449940 - 72950683 72972065 - 73536353 73557735 - 1302558;6480464 9806765 12477932;14702039;15489334;16344560;18193044;20360068;20571754;20864672;20972250;21044950;21300955;21890473;22082156;23018576;23505323;24250222;8605326;9860302;9931421 9275 F2Z3H6;F8WDZ4;F8WE18;Q9BQE9 ABBA01063951;AC005089;AJ223979;AK290091;AL525884;AL553260;AMYH02016023;AMYH02016024;AW328570;BC000956;BC001967;BC009548;BI603803;BI837138;BQ109412;CH471200;DA688517;NG_027959;NM_001197244;NM_001301061;NM_001707;NR_036682;X89985;XM_006716177 AAH00956;AAH01967;AAH09548;ABM84642;ABM92173;BAF82780;CAA11753;CAA62012;EAW69675;EAW69676;EAW69677;EAW69678;NP_001184173;NP_001287990;NP_001698;Q9BQE9;XP_006716240 Hs.647051 1689484;1735632;1790441;1795430;1853893;2116964 BCL7B_80;D7S2038E;D7S3295;RH69607;RH79567;STS-H69097 B-cell CLL/lymphoma 7 protein family member B;OTTHUMP00000160391;OTTHUMP00000211550 APPROVED protein-coding ENSG00000106635 HGNC:1005 05786 605846 REVIEWED 1319242 BCL9L B-cell CLL/lymphoma 9-like ENCODES a protein that exhibits beta-catenin binding; INVOLVED IN negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; positive regulation of transcription from RNA polymerase II promoter; FOUND IN nucleus; INTERACTS WITH afimoxifene; aflatoxin B1; benzo[a]pyrene diol epoxide I 11 11 11 q23.3 115926540 115941305 - 118766849 118796327 - 118896140 118925618 - 6480464 12477932;12964048;15371335;15574752;17052462;17113272;18029348;19328798;20467438;20637214;21703997;22109522;24255178 283149 E9PNR0;Q86UU0 AB094091;ABBA01039689;AK122650;AK122882;AMYH02025657;AP004609;AY296059;BC033257;CH471065;NM_182557;XM_005271511;XM_005271512;XM_005271513;XM_006718815 AAH33257;AAI56198;AAQ62697;BAC76045;BAC85500;BAC85512;EAW67418;NP_872363;Q86UU0;XP_005271568;XP_005271569;XP_005271570;XP_006718878 Hs.414740 1703222;5107489;5493885 Bcl9l;D11S795;SGC32303 BCL9-2;DLNB11 B-cell CLL/lymphoma 9-like protein;B-cell lymphoma 9-like protein;BCL9-like protein;OTTHUMP00000232840;OTTHUMP00000232841;nuclear co-factor of beta-catenin signalling protein-coding HGNC:23688 10612 609004 VALIDATED 1320189 BCLAF1 BCL2-associated transcription factor 1 This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q23.3 137318441 137351433 - 136578001 136611783 - 136256863 136290645 - 6480464 10330179;10837489;12477932;12890497;14574404;15009215;15302935;15324660;15489334;15659558;15681850;16055720;16083285;16159877;16196087;16565220;16964243;17081983;17620599;17938203;18029348;18271526;18976975;19471022;19705920;19805454;20020773;20360068;20661537;20855536;21139048;21145461;21182205;21282530;21454709;21693764;21890473;21906983;22113938;22645331;22833098;22952844;22990118;23000965;23184937;23364796;23383273;23398456;23602568;23752268;23778535;23824909;24250222;24337577;24389646;24457600;24654937;24657165;24816145;24984263;25027693;8724849 9774 B0AZU3;E9PJA7;E9PK09;E9PK91;E9PKI6;E9PQN2;H0YF00;H0YF14;H0YF63;Q9NYF8 ABBA01025829;AF249273;AK303559;AK308870;AK309259;AK315884;AL121713;AMYH02014553;BC016682;BC047687;BC047887;BC056894;BC063846;BC078160;BC132780;BC144281;BC144282;BC144299;BX107174;BX537576;BX648431;BX648878;BX649160;CH471051;D79986;NM_001077440;NM_001077441;NM_001301038;NM_014739;XM_005267236;XM_005267237;XM_005267238;XM_005267239;XR_245558;XR_245559 AAF64304;AAH16682;AAH47687;AAH47887;AAH56894;AAH63846;AAH78160;AAI32781;AAI44282;BAA11481;BAF98775;BAH13985;EAW47949;EAW47950;EAW47951;EAW47952;NP_001070908;NP_001070909;NP_001287967;NP_055554;Q9NYF8;XP_005267293;XP_005267294;XP_005267295;XP_005267296 Hs.486542 1665188;1665190;1671526;1673449;1676426;1679331;1720217;1740131;1744339;2121580;2132002;2184895;2186759;2189551 A005T27;D6S1538;D6S2199;G20483;GDB:451730;RH124022;RH1522;RH25382;RH47371;RH68011;RH93195;SHGC-56727;STS-AA037848;UniSTS:236317 BTF;KIAA0164;bK211L9.1 OTTHUMP00000017270;OTTHUMP00000234711;OTTHUMP00000234733;OTTHUMP00000234734;OTTHUMP00000234777;OTTHUMP00000234778;OTTHUMP00000234780;OTTHUMP00000234781;bcl-2-associated transcription factor 1 APPROVED protein-coding ENSG00000029363 HGNC:16863 16544 612588 REVIEWED 1344218 BCORP1 BCL6 corepressor pseudogene 1 Y Y Y q11.222 6108501 6156219 + 21617317 21665039 - 19455431 19503153 - 12477932;12815422;14702039;9847074 286554 Q8N888 ABBA01073759;ABBA01073760;ABBA01073761;AC010137;AK097140;AK303164;BC063452;BC110520;BC110521;BC122539;NR_002923;NR_033732 BAC04961;BAG64264;Q8N888 Hs.211713 2188631;2188645;2188661;2188677;2188681;5017969;5017971;5022826;5095143;5095145;5095147;5095149;5095151;5095153;5095155;5095157 BCoRP-10;BCoRP-12;BCoRP-13;BCoRP-14;BCoRP-4-1;BCoRP-4-2;BCoRP-4-3;BCoRP-4-4;BCoRP-4-5;BCoRP-4-6;BCoRP-9;G66368;G66375;G66383;G66391;G66543 BCORL2;FLJ39821 BCoR-like protein 2;putative BCoR-like protein 2 APPROVED pseudo HGNC:23953 08266 VALIDATED 1606540 BCOR BCL6 corepressor The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010] X X X p11.4 44049354 44175356 - 39910499 40036643 - 40051246 40177390 - 6480464;7240710;8554872;8699517 10898795;10997877;11777915;12116202;12477932;12522145;12776190;14702039;15004558;15302935;15489334;15770227;15878880;16713569;16943429;17517692;18280243;18801742;19121354;19367324;19471022;19578371;20301552;20301694;20431927;20639865;20807888;20854876;21139048;21693764;21890473;21906983;21963094;21987572;22012066;22053931;22301464;22325352;22387997;22505724;23000965;23074094;23470693;23523425;23911289;24047651;24146931;24211586;24285434;24457600;25015289;8125298 54880 A6NE70;C9JHP3;H7BYY2;H7BZ37;H7C231;H7C2V9;Q6W2J9 AB046795;ABBA01046854;ABBA01046855;ABBA01046856;ABBA01046857;ABBA01046858;ABBA01046859;ABBA01046860;ABBA01046861;ABBA01046862;ABBA01046863;ABBA01046864;ABBA01046865;ABBA01046866;ABBA01046867;ABBA01046868;ABBA01046869;ABBA01046870;ABBA01046871;ABBA01046872;ABBA01046873;ABBA01046874;AC091806;AC092198;AF317391;AF317392;AK000292;AK056538;AK074286;AK095360;AK225581;AL591802;AL698729;AMYH02039184;AMYH02039185;AMYH02039186;AY316592;BC009675;BC063536;BC114220;BC128387;BC128456;CH471141;NG_008880;NM_001123383;NM_001123384;NM_001123385;NM_017745;XM_005272616;XM_005272617;XM_005272618;XM_005272619;XM_005272620;XM_006724536 AAG41429;AAG41430;AAH09675;AAH63536;AAI14221;AAI28388;AAR08265;BAA91061;BAB13401;BAB85037;BAG53034;EAW59425;EAW59426;EAW59427;EAW59428;EAW59429;EAW59430;NP_001116855;NP_001116856;NP_001116857;NP_060215;Q6W2J9;XP_005272673;XP_005272674;XP_005272675;XP_005272676;XP_005272677;XP_006724599 Hs.659681 1647633;1649667;1683044;1697002;1702084;1758289;2144369;2188681;2220442 DXS228;DXS7568;DXS992;G66543;RH101975;RH91894;SHGC-147935;SHGC-56557;UniSTS:482364 ANOP2;FLJ20285;FLJ38041;KIAA1575;MAA2;MCOPS2;MGC131961;MGC71031 BCL-6 corepressor;BCL-6 interacting corepressor;BCL6 co-repressor;OTTHUMP00000025761;OTTHUMP00000025763;OTTHUMP00000025766;OTTHUMP00000025767;OTTHUMP00000202255 APPROVED protein-coding ENSG00000183337 HGNC:20893 06458 300166;300485 REVIEWED 1344777 BCPM benign chronic pemphigus (Hailey-Hailey disease) ASSOCIATED WITH Pemphigus, Benign Familial (inferred) 7240710 7981684 HGNC:1013 169600 1346552 BCO1 beta-carotene oxygenase 1 Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008] 16 16 16 q23.2 65569740 65622032 + 81272176 81324747 + 81238691 81291142 + 634553;1580863;6480464;6903956;6484679;6907045;7240710;8554872 10799297;21569862;21718801 10766819;11401432;12477932;14702039;15489334;15583024;15983114;16504037;17951468;18282583;18295589;18464913;19103647;19185284;19662379;19844255;20221844;20599666;21091228;22113863;23134893;23517913;23656756;23727499;23803888;24071514;24106281;24187135;24668807 53630 H3BPA2;H3BV18;Q9HAY6 ABBA01016967;ABBA01016968;ABBA01016969;ABBA01016970;ABBA01016971;AC009148;AC131888;AF294900;AK001592;AK296011;AMYH02032507;AMYH02032508;BC022269;BC126210;BC126212;CH471114;NG_012171;NM_017429 AAG15380;AAI26211;AAI26213;ADR83052;BAA91776;BAG58782;EAW95537;EAW95538;NP_059125;Q9HAY6 Hs.212172 2218306 BCMO1_4442 BCDO;BCDO1;BCMO;BCMO1;BCO;FLJ10730 OTTHUMP00000174978;beta,beta-carotene 15,15'-monooxygenase;beta-carotene 15, 15'-dioxygenase 1;beta-carotene 15,15'-monooxygenase 1;beta-carotene dioxygenase 1 APPROVED protein-coding ENSG00000135697 HGNC:13815 12042 115300;605748 REVIEWED 1349428 BCRL2 breakpoint cluster region-like 2 3267213 614 HGNC:1015 1346589 BCORL1 BCL6 corepressor-like 1 The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] X X X q25-q26.1 129525724 129578619 + 129114277 129192058 + 129980302 130058083 + 6480464;8554872 12477932;14702039;16344560;17379597;17697391;18029348;19471022;21139048;21693764;21906983;21989985;22325352;22505724;23064961;23523425;23793880;24024966;24047651;24457600 63035 H7C4B2;Q5H9F3;V9GYD4 ABBA01047875;ABBA01047876;ABBA01047877;ABBA01047878;ABBA01047879;ABBA01047880;AI209024;AK021424;AK024395;AK074089;AK124676;AL034405;AL096777;AL136450;AMYH02040470;AMYH02040471;AMYH02040472;BC044652;BE244710;BE246581;CH471107;DA227697;KF459398;KF459400;KF510634;NG_021274;NM_021946;XM_005262452;XM_005262453;XM_005262454;XM_005262455;XM_005262456;XM_006724776;XM_006724777;XM_006724778;XM_006724779;Z82208 AAH44652;AAI56743;BAB13821;BAB84915;BAC85922;CAB46626;EAX11815;EAX11816;EAX11817;EAX11818;NP_068765;Q5H9F3;XP_005262509;XP_005262510;XP_005262511;XP_005262512;XP_005262513;XP_006724839;XP_006724840;XP_006724841;XP_006724842 Hs.496748 1677146;1691600;1699392;2156851;2172550;2185192;5037552;5037554 AFM338za9;AL008917;AL032547;D8S2279;D8S2282;DXS9756;RH103287;RH93023 B930011H20Rik;BCoR-L1;CXorf10;FLJ11362;FLJ11632 BCL-6 corepressor-like protein 1;BCL6 co-repressor-like 1;BCoR-like protein 1;OTTHUMP00000023995;OTTHUMP00000023996 APPROVED protein-coding ENSG00000085185 HGNC:25657 06517 300688 REVIEWED 1319131 BCO2 beta-carotene oxygenase 2 This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 11 11 11 q23.1 109199441 109242886 + 112046208 112089652 + 112175485 112218929 + 1580863;6480464 11278918;12477932;14702039;15949678;15983114;16712791;18464913;19913121;20150558;20628086;20967262;21106934;21302131;22610502;24106281;24182552;24982131;8889548 83875 B2RCV8;E9PPP9;E9PS89;H0YCL7;H0YCN8;Q9BYV7 AB096252;ABBA01039801;ABBA01039802;AF276432;AJ290393;AK027801;AK091783;AK297853;AK315300;AMYH02025585;AMYH02025586;AP002884;BC041656;BC047934;BU732625;BX503569;CB162567;CD708042;CH471065;EF444956;NM_001037290;NM_001256397;NM_001256398;NM_001256400;NM_031938 AAH41656;AAK69433;ACA05952;BAB55379;BAC03747;BAG37705;BAG60185;CAC27994;EAW67189;EAW67190;EAW67191;EAW67192;EAW67193;EAW67194;NP_001032367;NP_001243326;NP_001243327;NP_001243329;NP_114144;Q9BYV7 Hs.728325 2133939;5125809 RH77842;SGC30933 B-DIOX-II;BCDO2;FLJ34464 OTTHUMP00000163945;OTTHUMP00000196941;OTTHUMP00000196942;OTTHUMP00000234754;OTTHUMP00000234755;OTTHUMP00000234756;b,b-carotene-9',10'-dioxygenase;beta,beta-carotene 9',10'-dioxygenase variant 1;beta,beta-carotene 9',10'-oxygenase;beta-carotene 9',10' oxygenase;beta-carotene dioxygenase 2;carotenoid-9',10'-cleaving dioxygenase APPROVED protein-coding ENSG00000197580 HGNC:18503 12522 611740 REVIEWED 1344297 BCRP4 breakpoint cluster region pseudogene 4 22 22 q11.22 22972536 22979055 + 22630065 22636584 + 10591208;9074928 616 AC244250;D87002;NG_000002 BCR-4;BCR4;BCRL4 APPROVED pseudo HGNC:1017 VALIDATED 1605782 BCRP2 breakpoint cluster region pseudogene 2 INTERACTS WITH all-trans-retinoic acid 22 22 22 q11.21 4948595 4959912 + 21457305 21476575 + 21103016 21122286 + 6480464 10591208;14702039;3267213 400892 ABBA01055133;ABBA01055134;AK124943;AMYH02038086;AP000550;KF459853;KF459855;KF459856;NR_037566 BAC86000 Hs.745077 BCR-2;BCR2;BCRL2;FLJ36027;FLJ42953 APPROVED pseudo HGNC:1015 13467 VALIDATED 1353768 BCRL6 breakpoint cluster region-like 6 q11.23 10591208 23775 AP000359 protein-coding HGNC:1019 4144675 BCRP1 breakpoint cluster region pseudogene 1 22 22 22 q11.23 8453760 8460124 - 24653368 24659733 - 24257400 24263765 - 22199321;3267213 644079 AMYH02038141;AP000354;NG_009423 BCR-1 pseudo HGNC:39073 INFERRED 1346208 BCRP5 breakpoint cluster region pseudogene 5 22 22 22 q11.21 3168 6689 + 21049726 21053247 - 20695438 20698959 - 10591208 648980 AC007050;AMYH02038078;NG_009418 BCRL5 breakpoint cluster region-like 5 APPROVED pseudo HGNC:1018 INFERRED 4144517 BCRP7 breakpoint cluster region pseudogene 7 22 22 q11.21 18839797 18846153 - 18852284 18858640 - 100133163 AC008103;AC008132;AMYH02038031;NG_009420 pseudo HGNC:39075 INFERRED 1347169 BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012] 2 2 2 q33 213292137 213295924 + 219524379 219528166 + 218659656 218663443 + 1600515;1580863;6480464;7240710;8554872;8699517 11528392 12215968;12477932;14702039;15489334;16169070;16344560;17314340;17403714;18386115;18628306;19162478;19389488;19508421;20301352;20301382;20301403;20518024;20877624;21890473;21900206;21906983;22797925;22939629;22991165;23000965;24172246;8125298;8599931;8619474;9110174;9545407;9792866;9878253 617 A8JZZ8;C9J1S9;C9J4Q9;C9J8G3;C9JAS4;H7BZF6;H7C492;Q9Y276 ABBA01023861;AC009974;AC079810;AF026849;AF038195;AF346835;AF516670;AK096210;AK223518;AK289363;AMYH02005805;BC000416;BC007500;BX571752;CH471063;DA540458;DA613959;EF672347;NG_008018;NG_033099;NM_001079866;NM_001257342;NM_001257343;NM_001257344;NM_004328;XM_005246747;XM_005246748;XM_005246749;XM_006712678;XR_427105 AAB97365;AAD08638;AAH00416;AAH07500;AAK29417;AAN05490;AAY24033;ABM82803;ABM85990;ABV24964;ACE86996;ACE87685;BAD97238;BAF82052;BAG53231;CAE11877;EAW70634;EAW70635;EAW70636;EAW70637;EAW70638;EAW70639;EAW70640;NP_001073335;NP_001244271;NP_001244272;NP_001244273;NP_004319;Q9Y276;XP_005246804;XP_005246805;XP_005246806;XP_006712741 Hs.471401 1299945;1336266;1338282;1659190;1777508;1777510;5020250;7184430 D2S1371;D2S163;D2S434;NIB1635;WI-12445;WI-14333;WI-15403 BCS;BCS1;BJS;FLNMS;Hs.6719;MC3DN1;PTD;h-BCS;h-BCS1 BCS1-like protein;GRACILE;OTTHUMP00000164147;OTTHUMP00000206492;OTTHUMP00000206493;OTTHUMP00000206494;OTTHUMP00000206495;OTTHUMP00000206496;OTTHUMP00000206497;mitochondrial chaperone BCS1;mitochondrial complex III assembly APPROVED protein-coding ENSG00000074582 HGNC:1020 04708 124000;256000;262000;603358;603647 REVIEWED 1352977 BCRP3 breakpoint cluster region pseudogene 3 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH lead(0); lead(2+) 22 22 22 q11.23 7466119 7474738 + 25028882 25049327 + 24632915 24653360 + 6480464;8554872 10591208;16344560;3267213 644165 ABBA01012519;ABBA01055143;ABBA01055144;ABBA01055145;AK297038;AMYH02038146;AP000356;AW193769;BM920079;BX090183;DB345226;NR_024494 BAG59566 Hs.531306;Hs.655234;Hs.730665 5106704;5113551;5117214 GDB:451800;RH66855;RH80432 BCR3;BCRL3;BCRL6 APPROVED pseudo HGNC:1016 VALIDATED 4144530 BCRP6 breakpoint cluster region pseudogene 6 22 22 22 q11.21 8453760 8460124 - 21642518 21648878 - 21288229 21294589 - 728468 AMYH02038087;AP000552;NG_009421 pseudo HGNC:39074 INFERRED 1317506 BCR breakpoint cluster region A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.23 7337083 7474738 + 23522402 23660224 + 23180365 23318037 + 1580863;1600510;1600511;6480464;6907045;7240710;8699517;8554872 11560856;3101769 10194128;10508479;10706130;10849448;10887126;10887132;11069024;11376433;11746971;11780146;11790798;12023981;12096337;12114534;12115002;12144533;12145699;12370803;12393433;12408765;12477932;12522270;12543778;12556557;12560071;12586822;12592324;12734675;12764153;12781448;12808105;12821944;12890867;1317490;1383690;14534537;14581377;14654084;14656881;14702039;14725908;14961028;14966468;14993251;15123239;15143164;15144186;15145216;15248918;15389825;15481444;15489334;15494376;15542838;15626746;15684424;15716990;15723338;15735728;15857938;15866548;15968309;16045749;16079118;16116902;16169070;16264277;16418324;16442529;16442619;16449534;16469868;16481037;16490599;16494625;16502579;16502580;16543472;1657398;16596225;16598834;16631477;16670264;16723087;16778200;16825666;16849647;16855631;16888785;16912036;16914906;16955467;16966279;16998483;16999686;17018862;1706781;17081983;17090304;17102890;17110338;1712671;17145570;17196995;17303698;17314511;17347407;17349636;17374743;17579186;17597804;1763041;17638851;17638918;17643375;17710227;17762503;17768128;17822820;17928051;17934518;17939855;18070886;18082628;18227349;18246120;18287094;18354488;18385754;18391951;18406870;18406872;18474292;18495245;18503828;18538733;18549649;18603297;18603549;18617057;18676680;1868241;18704194;18784740;18794796;18809762;18827185;18976975;1900918;19020542;1903516;19048492;19056867;19061839;19067742;19135771;19170196;19203346;19240172;19261608;19295548;19369965;19380743;19557636;19571320;19608682;19615732;19619277;19625176;19625707;19652056;19692168;19718053;19724931;19840940;19876398;19911011;19946888;20007699;20010464;20015884;20028985;20038234;20141430;20207846;20304029;20351714;20379614;20442314;20452982;20463552;20520635;20607847;20633771;20675402;20697350;20717963;20739956;21045136;21124777;21139048;21156844;21183952;21203397;21239056;21248063;21266020;21310073;21330459;21489624;21504383;21641753;21674858;21693761;21706016;21762985;21764785;21895409;21900237;21903771;21906983;21908428;2193202;21935931;21960589;21963094;22184410;22230800;22231445;22233112;22327125;22384256;22447844;22471662;22526369;22542470;22587422;22591684;22593461;2263470;22665066;22772060;22782217;22787435;22847163;22889411;22896000;22952844;22957062;23047475;23062104;23062378;23065514;23086624;23124138;23171834;23207522;23223358;23269583;23277196;23287430;23289360;23317202;23396943;23428668;23455922;23458731;23588714;23604228;23716543;23788109;23799845;23894305;23934627;23940119;23950177;23974192;23980151;2407300;24262285;24269846;24456693;24550512;24675360;24779036;24816145;24856998;24903628;2678002;2820585;2825022;2915904;2989692;2989703;3023859;3107980;3118359;3194194;3285291;3422516;3463934;3540951;6281890;6316147;6319012;6584200;7506601;7529874;7534286;7606002;7665185;7724587;7939633;8112292;8195176;8204871;8453102;8502487;8621719;8622703;8756631;8757502;8943292;8955135;8978305;9053848;9071815;9178913;9209414;9211920;9407116;9467953;9535855;9566916;9747873;9788431;9822717;9872323;9874796;9949177 613 A9UF05;H0Y554;P11274 AB209991;AB742170;AB742171;ABBA01055103;ABBA01055104;ABBA01055105;ABBA01055106;AF192533;AF487522;AK122842;AK124310;AK128501;AK303241;AMYH02038123;AMYH02038124;AY533677;AY536245;AY536246;AY536247;AY536248;AY536249;AY536250;BC031568;BC041705;BC053641;BC063619;BC066122;BC071742;BC083493;BQ422888;CH471095;EU216058;EU216059;EU216061;EU216062;EU216063;EU216064;EU216067;EU216069;EU216070;HQ622706;KF457370;KF457372;KF457379;KF457382;L02935;M15025;M17542;M55395;M64437;NG_009244;NM_004327;NM_021574;U07000;X02596;X06418;X14676;X52828;X52829;Y00661 AAA35594;AAA35595;AAB60388;AAB60389;AAB60390;AAF61858;AAH83493;AAL99544;AAN76489;AAS46907;AAS46908;AAS46909;AAS46910;AAS46911;AAS46912;AAS57923;ABX82700;ABX82701;ABX82703;ABX82704;ABX82705;ABX82706;ABX82709;ABX82711;ABX82712;ADU04570;BAE06073;BAG64327;BAM36291;BAM36292;CAA26441;CAA29726;CAA32806;CAA37010;CAA37011;CAA68676;EAW59564;EAW59565;EAW59566;EAW59567;EAW59568;EAW59569;EAW59570;NP_004318;NP_067585;P11274 Hs.517461;Hs.715409 1336560;1676049;1687616;1709268;1722413;1741551;1741553;1742081;1742185;1744391;1784512;2121612;2125985;2134929;2147343;2160552;2165026;5015961;5016596;5017629;5019735;5021596;5022322;5022403;5096226;5106704;5108177;5113551;5117214;5119527;7190681;7190691 A005T29;A009L29;BCR;D11S2560;D15S1477;D22S1027;D22S1100E;D22S257;G20484;G32654;G60279;GDB:177065;GDB:181503;GDB:181505;GDB:190907;GDB:193184;GDB:315173;GDB:451800;GDB:452640;GDB:631802;RH11197;RH27788;RH66855;RH70541;RH80432;SHGC-170331;SHGC-30277;SHGC-85827;SHGC-9196;STS-H69004 ALL;BCR1;CML;D22S11;D22S662;FLJ16453;PHL BCR/FGFR1 chimera protein;FGFR1/BCR chimera protein;OTTHUMP00000028949;OTTHUMP00000067895;breakpoint cluster region protein;renal carcinoma antigen NY-REN-26 APPROVED protein-coding ENSG00000186716 HGNC:1014 01044 151410;608232;613065 REVIEWED 1352984 BCYRN1P1 brain cytoplasmic RNA 1, pseudogene 1 X X X q27.1 139170224 139170420 + 138802738 138802934 + 139720579 139720775 + 7684772;8265590 619 ABBA01066060;AL161777;AMYH02040614;NG_003040;U01307 BC200b pseudo HGNC:1023 INFERRED 1343553 BCYRN1P2 brain cytoplasmic RNA 1, pseudogene 2 1 q42 195047583 195047763 + 7684772;8265590 620 AADB02001168;ABBA01048064;NG_001085;U01308 BC200g pseudo HGNC:1024 INFERRED 1349102 BCYRN1 brain cytoplasmic RNA 1 This gene, which encodes a neural small non-messenger RNA, is a member of the family of interspersed repetitive DNA, and its product represents an example of a primate tissue-specific RNA polymerase III transcript. The RNA sequence is divided into three domains: a 5' portion homologous to the Alu Lm, a central adenosine-rich region, and the terminal 43-nt nonrepetitive domain. It is believed that this gene was retropositionally generated and recruited into a function regulating dendritic protein biosynthesis. At least two pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2008] 2 2 2 p21 47401236 47401434 + 47562454 47562653 + 47335315 47335514 + 6480464;8554872 11399078;15240511;16054886;17553964;24244371;7684772;8265590;9858834 618 ABBA01075156;AC079775;AF020057;AMYH02003753;NR_001568 BC200;BC200a;LINC00004;NCRNA00004 APPROVED ncrna HGNC:1022 606089 REVIEWED 1342712 BDK bradykinin ASSOCIATED WITH BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY (inferred) 7240710 589 HGNC:1028 614923 1351481 BDH2P1 3-hydroxybutyrate dehydrogenase, type 2 pseudogene 1 6 6 6 q16.2 100266678 100269574 + 99622547 99625446 + 99174671 99177570 + 389416 ABBA01014489;AL591803;AMYH02014181;NG_005299 1676826;1677488 RH94279;SHGC-67353 DHRS6P1;bA758C21.1 dehydrogenase/reductase (sdr family) member 6 pseudogene 1 pseudo HGNC:21476 INFERRED 4144531 BCRP8 breakpoint cluster region pseudogene 8 22 22 22 q11.23 7336577 7337546 - 23522110 23522359 - 23179923 23180172 - 1317490;1763041;1868241;2193202;2678002;2915904;3023859;3107980;3194194;3463934;6281890;6316147;6319012;7063411;7506601;7665185;8453102 100133044 ABBA01055103;AMYH02038123;NG_032057;U07000 1742185;1744391;5017629 BCR;GDB:193184;GDB:452640 pseudo HGNC:39076 INFERRED 1354326 BDMR brachydactyly-mental retardation syndrome ASSOCIATED WITH BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (inferred) 7240710 7847374 626 HGNC:1032 600430 730874 BDKRB1 bradykinin receptor B1 Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 14 14 14 q32.1-q32.2 76778278 76786817 + 96721641 96735304 + 96256210 96264763 + 704381;704378;1580863;704379;704380;1625733;1625732;628496;1579989;2313334;5129217;5129229;5129222;4890450;5129227;5129214;5129218;5129220;6480464;6907045;7241550;7241551;7241554;7241559;7241560;7241561;7175321;7241569;7241570;1625040;7241581;7241582;7401225;7401223;8554872 10604543;10809796;11853231;12025958;12165532;12411434;12489796;12522068;12637034;12746865;12927641;15576455;15643125;15734727;15878326;16177542;17184856;17618300;17852785;17988733;18182225;18311190;18725957;18809736;20092893;20448019;20451601;20479236;20587056;21412216;9555662 10188626;10329474;10422787;11025765;11278902;11710536;11880373;12025967;12063092;12130679;12450400;12477932;12481150;14499231;15033977;15489334;15492119;15520046;15634338;15681300;15705059;15805101;15837330;15840906;15883268;16644486;16712791;16754659;17110500;17128974;17303584;17327486;17328065;17878384;18039523;18039525;18187413;18240029;18467203;18577758;18577888;18938142;19038786;19082699;19086053;19120546;19184415;19404481;19546528;19641039;19661485;19725054;19796797;19885862;19913121;20152050;20189583;20628086;21052031;21147512;21216565;21454694;21871009;21986309;22088753;22092568;22468084;22706224;22971439;23201435;23224295;23351078;23428345;24108126;24475248;7495867;8063797;8651911;8660997;8808279;8995263;9930991 623 G3V4Y2;P46663 AB065896;ABBA01048595;AF117819;AJ238044;AK291970;AK309528;AL355102;AMYH02029802;AX646477;AY275464;BC034705;CB130642;CH471061;KJ950627;KJ950628;L42383;NM_000710;U12512;U22346;U30271;U48231;W49512 AAA21346;AAB60693;AAC50594;AAD14824;AAD17233;AAH34705;AAP32296;ABM82202;ABM85390;AIC76569;AIC76570;BAC06112;BAF84659;CAB45650;CAD69366;EAW81632;NP_000701;P46663 Hs.525572 1654251;2220336 BDKRB1;RH17999 B1BKR;B1R;BDKRB2;BKB1R;BKR1;BRADYB1 B1 bradykinin receptor;BK-1 receptor;OTTHUMP00000245974;bradykinin B1 receptor;bradykinin receptor 1;bradykinin receptor B2 APPROVED protein-coding HGNC:1029 02639 600337 REVIEWED 1348244 BDM behavior disorder modifier 625 HGNC:1031 5130619 BCYRN1P3 brain cytoplasmic RNA 1, pseudogene 3 13 13 13 q11 355128 355321 - 19283849 19284042 - 18709709 18709902 - 8265590 654337 ABBA01068527;AC245149;AL391382;NG_005375 pseudo HGNC:39833 INFERRED 737386 BDKRB2 bradykinin receptor B2 This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. [provided by RefSeq, Jul 2008] 14 14 14 q32.1-q32.2 76726862 76766386 + 96671016 96710666 + 96204798 96244329 + 1331525;1580863;704378;704379;2313334;2313332;2313335;4890456;4890451;4891041;4891031;4891040;4891042;4891055;4890452;4890450;4890453;4890457;4891024;4891039;4890454;4891044;4891028;4891033;4891026;4891030;4891032;4891034;4891025;4891027;4890455;4891029;4891047;5129227;6480464;6907045;7401225;7401223 10188975;10385260;10702448;10904024;11149999;11517947;11699055;11934804;12025958;12489796;12522467;14727005;15021973;15118671;15316088;15734727;15878794;16138314;16177542;16600946;17596525;17852785;18182225;18311190;1890650;19038786;19300402;19744011;19950773;20080302;21052031;7791078;8856156;9039147;9208140 10085087;10188626;10469138;10510297;10653985;10681501;10748135;10993080;11324803;11409654;11446495;11517230;11710536;11747451;11908480;11954665;12025967;12039525;12063092;12107246;12130679;12177051;12450400;12477932;12481150;12489797;12640257;12705334;12851878;1314587;1329734;14499231;14607851;15033977;15112434;15114524;15117835;15161928;15281091;15301669;15489334;15634338;15643125;15643126;15654972;15664511;15664665;15771553;15805101;15894833;16144969;16263113;16294326;16344560;16461337;16489763;16740128;16754659;16950802;17030791;17077303;17110500;17207964;17299793;17303584;17327486;17328065;17363739;17420253;17522594;17569300;17593394;18039523;18096516;18180402;18187413;18240029;18258629;18430865;18467203;18577888;18672896;18810490;18927465;18938142;19017652;19074839;19082699;19086053;19110485;19120546;19339996;19404481;19420105;19456859;19565561;19578796;19580784;19628666;19716087;19725054;19854233;19885862;19913121;20036225;20044476;20045189;20050188;20189583;20201926;20300066;20473401;20511677;20592051;20602751;20628086;20856803;20944660;20952631;21108627;21145390;21210858;21451024;21586566;21600887;21602894;21626144;21719759;21871009;21986469;22016392;22047990;22108573;22304584;22468762;22653778;22706224;22706620;22900090;22935637;23093849;23127247;23132855;23176367;23224295;23243416;23275384;23351078;23362199;23428345;23454239;23588115;23613132;23730990;23805043;23824909;24047499;24211782;24236827;2834384;7779089;7779090;7835885;7916737;8063797;8302267;8394991;8652530;8777990;8900488 624 P30411;Q6LAU9 ABBA01048595;AF378542;AI095360;AK299316;AK311049;AL355102;AMYH02029802;AY275465;BC074894;BC074895;CH471061;CR749338;DA096163;DC422332;L27594;M88714;NM_000623;S45489;S56772;X69680;X86162;X86164;X86165;X86172;X86173 AAB02793;AAB23467;AAB25765;AAH74894;AAH74895;AAK56376;AAP32297;BAG61326;CAA49360;CAA60108;CAA60109;CAH18192;EAW81629;NP_000614;P30411 Hs.654542;Hs.726620 1792434;2150654 PMC150944P1;RH70880 B2R;BK-2;BK2;BKR2;BRB2;DKFZp686O088 B2 bradykinin receptor;BK-2 receptor;OTTHUMP00000245971 APPROVED protein-coding ENSG00000168398 HGNC:1030 00213 113503 REVIEWED 737289 BDH1 3-hydroxybutyrate dehydrogenase, type 1 This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 3 3 3 q29 195829052 195891752 - 197236654 197300194 - 197509783 197573323 - 1580863;2326093;2326100;4105460;6480464;6484113;6907045 15877199;3422549;3548709 10933785;11009606;11752456;12477932;15489334;1639787;17207965;18029348;19027726;20877624;21791085;21832049;23752268;7686368;8615695;8679568;8889549 622 C9JB83;C9JEB9;C9JM78;C9JQ90;C9K0G7;E9PCG9;H7C2W1;Q02338 ABBA01033769;ABBA01033770;ABBA01033771;ABBA01033772;AC128709;AC132008;AK126701;AMYH02008518;AMYH02008519;AV645953;BC005844;BC011964;BC019317;BC021183;BE782251;BI601294;BQ897235;CH471191;EF095211;H80183;M93107;NM_004051;NM_203314;NM_203315;XM_005269352;XM_005269355 AAA58352;AAH05844;AAH11964;AAH19317;ABL01515;ADQ32361;EAW53606;EAW53607;EAW53608;EAW53609;NP_004042;NP_976059;NP_976060;Q02338;XP_005269409;XP_005269412 Hs.274539 1646551;1653945;1664103;1671414;2140547;2160565;5037552 D3S4168;D8S2279;RH12227;SGC33667;SHGC-77706;STS-H66146;WI-16787 BDH;MGC2723;MGC4347;MGC9788;SDR9C1 (R)-3-hydroxybutyrate dehydrogenase;3-hydroxybutyrate dehydrogenase (heart, mitochondrial);D-beta-hydroxybutyrate dehydrogenase, mitochondrial;OTTHUMP00000208056;OTTHUMP00000208057;OTTHUMP00000208058;OTTHUMP00000208059;OTTHUMP00000208060;short chain dehydrogenase/reductase family 9C, member 1 APPROVED protein-coding ENSG00000161267 HGNC:1027 04344 603063 REVIEWED 1604606 BDH2 3-hydroxybutyrate dehydrogenase, type 2 ENCODES a protein that exhibits 3-hydroxybutyrate dehydrogenase activity; NAD binding; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (ortholog); INVOLVED IN epithelial cell differentiation; fatty acid beta-oxidation; heme metabolic process (ortholog); PARTICIPATES IN butanoate metabolic pathway; ketone bodies metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 4 4 4 q24 101295921 101318163 - 103998770 104021024 - 103077613 103099867 - 6480464;6907045;8554872 10931946;12477932;12975309;14702039;15489334;16380372;17893145;19027726;19056867;20332099;21139048;21791085;21890473;21906983;22053931;22527885;23000965;23941109;24816145 56898 D6R9U8;D6RBF6;D6RFG2;D6RIR6;Q9BUT1 ABBA01063707;AC097485;AF164790;AK023323;AK128463;AK290160;AK291335;AK300626;AMYH02009821;AW136198;AX179297;AY358841;BC001953;BC037277;BC095414;BI544872;CH471057;CR457309;HB929452;HB945850;HB959532;HC986861;HD003260;HD016942;NM_020139;XM_005263140;XM_006714274 AAF80754;AAH01953;AAH37277;AAH95414;AAQ89200;BAB14526;BAF82849;BAF84024;BAG54681;BAG62318;CAC43884;CAG33590;CBF99640;CBG07667;CBG14351;CBV13160;CBV21189;CBV27865;EAX06163;EAX06164;EAX06165;EAX06166;EAX06167;EAX06168;NP_064524;Q9BUT1;XP_005263197;XP_006714337 Hs.124696 1676826;1677060;1677488;1713811;2160181 RH120792;RH91916;RH94279;SHGC-67353;STS-N58734 DHRS6;EFA6R;FLJ13261;PRO20933;SDR15C1;UCPA-OR;UNQ6308 3-hydroxybutyrate dehydrogenase type 2;OTTHUMP00000082657;R-beta-hydroxybutyrate dehydrogenase;dehydrogenase/reductase (SDR family) member 6;dehydrogenase/reductase SDR family member 6;oxidoreductase UCPA;short chain dehydrogenase/reductase family 15C, member 1 protein-coding HGNC:32389 07103 VALIDATED 2289748 BDP1P B double prime 1 pseudogene 18 18 18 q23 71963251 71968444 - 75144013 75149205 - 77432057 77437249 - 724038 ABBA01015295;AC124254;AMYH02035030;NG_005602 1681686;2128853 NIB1337;RH68238 pseudo HGNC:31044 INFERRED 1318324 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008] 5 5 5 q13 66647216 66759382 + 70751442 70863649 + 71455615 71567822 + 1580863;6480464;8554872 10574462;11040218;11161782;11214970;12477932;14527415;14592981;15096501;15342556;15469824;16542149;17499043;18391023;20379614;23251661;24312468;9169441;9171375 55814 A6H8Y1;H0YCV8;H7C5U4 AB033067;AB051476;ABBA01061892;ABBA01061893;ABBA01061894;ABBA01061895;AC138832;AC245931;AF176695;AF298151;AF298152;AI537645;AJ238520;AJ278892;AJ279120;AJ279144;AJ279145;AJ279146;AJ279147;AJ279148;AJ279149;AJ279150;AK057871;AMYH02011545;AMYH02011546;AMYH02011547;AMYH02011548;BC032146;BC146792;BC161615;BP246483;BP347992;BX641011;CH471084;CR749229;CR749289;NM_018429;XM_005276771;XM_006714658;XM_006714659;XM_006725460;XM_006725461;XM_006726216;XR_241785;XR_254199;XR_430843 A6H8Y1;AAG09268;AAG30220;AAG30221;AAH32146;AAI46793;AAI61615;BAA86555;BAB21780;BAB71602;CAC04245;CAC17771;CAC21448;CAE46010;CAH18085;CAH18144;EAW95688;EAW95689;NP_060899;XP_005276828;XP_006714721;XP_006714722;XP_006725523;XP_006725524;XP_006726279 Hs.258272 1647660;1681686;1749721;1755363;1755587;1785736;2128853;2217068 BDP1_3608;NIB1337;RH66386;RH68238;SHGC-111398;SHGC-142246;SHGC-142442;SHGC-81262 DKFZp686C01233;DKFZp686K0831;HSA238520;KIAA1241;KIAA1689;TAF3B1;TFC5;TFIIIB'';TFIIIB150;TFIIIB90;TFNR OTTHUMP00000222182;OTTHUMP00000222187;OTTHUMP00000224505;RNA polymerase III transcription initiation factor B'';TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1;transcription factor IIIB 150;transcription factor TFIIIB component B'' homolog;transcription factor-like nuclear regulator APPROVED protein-coding ENSG00000145734 HGNC:13652 06114 607012 REVIEWED 9587192 BECN1P2 beclin 1, autophagy related, pseudogene 2 6 6 6 72173584 72174638 + 71784964 71786018 + 71075261 71076315 + 100420149 ABBA01040277;AL096709;AMYH02013880;NG_025950 pseudo HGNC:51330 INFERRED 1344282 BDNF-AS BDNF antisense RNA ASSOCIATED WITH Bulimia Nervosa (inferred); Congenital central hypoventilation syndrome (inferred); Lung Neoplasms (inferred); INTERACTS WITH (+)-catechin 11 11 11 p14.1 27674107 27865830 + 27528384 27719718 + 27506852 27698171 + 8554872 15666411;17629449;19079260;20418890;21708048;22446693 497258 ABBA01060968;ABBA01060969;ABBA01060970;AC087750;AC100771;AC104563;AJ011597;AMYH02024504;AMYH02024505;AY054391;AY054401;AY054402;AY054403;AY054404;AY054405;AY513486;EF689022;EF689023;EF689024;EF689025;EF689026;EF689027;EF689028;EF689029;EF689030;EF689031;EF689032;EF689033;EF689034;EF689035;EF689036;EF689037;EF689038;EF689039;EF689040;EF689041;EF689042;HG503621;HG503622;HG503623;HG503624;HG503625;HG503626;HG503627;KF455345;KF455346;KF459669;NR_002832;NR_033312;NR_033313;NR_033314;NR_033315 Hs.675323 1342139;1725223;1732161;1737071;1742497;1770238;1774978;1790321;1797316;2122427;2144667;5108883 AFMB358ZC5;BDNF;BDNF-1;BDNF_2411;D11S1149;D11S1446;D11S1570;D11S2825;D11S4152;D11S4429;GDB:197571;RH118904 ANTI-BDNF;BDNF;BDNF-AS1;BDNFOS;BT2A;BT2B;BT2C;BT2D;NCRNA00049 APPROVED ncrna ENSG00000245573 HGNC:20608 611468 VALIDATED 4144982 BEAN1 brain expressed, associated with NEDD4, 1 The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 16 16 16 q21 50966717 51023308 + 66461200 66527432 + 66427297 66494193 + 6480464;8699517;8554872 11042109;12477932;14702039;19878914;19953087;20301317;20723845;21163552;21921537;22049201;23607545;23824909;8619474;8889548;9110174 146227 H3BRW1;J3KRN6;Q3B7T3 AB472390;AB472391;AB472392;AB472393;AB472394;AB472395;AB472396;AB472398;AB472399;ABBA01025406;ABBA01025407;ABBA01025408;AC010542;AC132186;AF070610;AK056142;AMYH02032204;AMYH02032205;AMYH02032206;BC000818;BC105723;BC105724;BC107477;BM666201;CH471092;NG_021403;NM_001136106;NM_001178020;NM_001197224;NM_001197225;XM_006721144 AAI07478;BAG51632;EAW83011;NP_001129578;NP_001171491;NP_001184153;NP_001184154;Q3B7T3;XP_006721207 Hs.740218;Hs.740219;Hs.97805 1686462;1738493;2142447 D16S2688;RH92071;SHGC-60691 BEAN;SCA31 brain-expressed protein associating with Nedd4 homolog APPROVED protein-coding ENSG00000166546 HGNC:24160 612051 REVIEWED 8694973 BEAN1-AS1 BEAN1 antisense RNA 1 16 16 q21 66503721 66512013 - 66469796 66476402 - 16344560 101927726 ABBA01025406;ABBA01025407;AC132186;AMYH02032205;AMYH02032206;DA850942;DA859002;DA862085;HG508183;HG508184;NR_109960 Hs.739193 CTD-2258A20.5 ncrna ENSG00000261656 HGNC:51114 VALIDATED 7206952 BEND3P1 BEN domain containing 3 pseudogene 1 10 10 10 q11.23 75573670 75579506 + 52417863 52423706 + 50658103 50663946 + 644459 ABBA01052480;AL589794;AMYH02023055;NG_011921 pseudo HGNC:45014 INFERRED 731027 BDNF brain-derived neurotrophic factor The protein encoded by this gene is a member of the nerve growth factor family. It is induced by cortical neurons, and is necessary for survival of striatal neurons in the brain. Expression of this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play a role in the regulation of stress response and in the biology of mood disorders. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jan 2009] 11 11 11 p13 27822548 27889725 - 27676440 27743605 - 27654893 27722058 - 631710;1331525;734643;734644;1580863;1300048;4891135;4891140;4891064;4891067;4891069;4891117;4891121;4891138;4891066;4891113;4891125;4891111;4891131;4891112;4891116;4891122;4891123;4891136;4891137;4891119;4891139;4891110;4891127;4891134;4891063;4891129;4891132;5144117;5508228;5684920;5684910;5684922;5684912;5684915;6480464;5684923;6907045;7240710;8655576;8655584;8655588;8655552;8655556;8655575;8655554;8655559;8655535;8632994;8655586;8655551;8636263;8639313;8655536;8655560;8655574;8554872;8655978;8655652;8655657;8655861;8655601;8655967;8657100;8657114;8657091;8657093;8699517;8655627;8655637;8657025;8657027;8657067;8657069;8655850;8657066;8657081;8655886;8657101;8657088;8657331;8655604;8655857;8655860;8657022;8657019;8655612;8655893;8657122;8657332;8655608;8655887;8657065;8657090;8657102;8657099;8657329;8657028;5144060;8655629;8655632;8657071 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627 E9PMP3;P23560;Q6YNR1 AB038670;AB038671;AB038672;AB038673;AB038674;ABBA01060968;AC103796;AC104563;AF400438;AF411339;AK289763;AK289853;AMYH02024505;AMYH02024506;AY011481;AY054392;AY054393;AY054394;AY054395;AY054396;AY054397;AY054398;AY054399;AY054400;AY054406;AY442188;AY656701;BC029795;CH471064;CX751420;DQ250642;EF674517;EF674518;EF674519;EF674520;EF674521;EF689009;EF689010;EF689011;EF689012;EF689013;EF689014;EF689015;EF689016;EF689017;EF689018;EF689019;EF689020;EF689021;KC855559;KF455346;KF459669;M37762;M61176;M61181;NG_011794;NM_001143805;NM_001143806;NM_001143807;NM_001143808;NM_001143809;NM_001143810;NM_001143811;NM_001143812;NM_001143813;NM_001143814;NM_001143816;NM_001709;NM_170731;NM_170732;NM_170733;NM_170734;NM_170735;X60201;X60202;X91251 AAA51820;AAA69805;AAA96140;AAG47514;AAH29795;AAK92487;AAL23557;AAL23558;AAL23559;AAL23560;AAL23561;AAL23562;AAL23563;AAL23564;AAL23565;AAL23571;AAO15434;AAR14686;AAT74399;ABB51155;ABM81737;ABM84892;ABS29021;ABS29022;ABS29023;ABS29024;ABS29025;ABS32249;ABS32250;ABS32251;ABS32252;ABS32253;ABS32254;ABS32255;ABS32256;ABS32257;ABS32258;ABS32259;ABS32260;ABS32261;AGR50950;BAB55545;BAB55546;BAB55547;BAB55548;BAB55549;BAF82452;BAF82542;CAA42761;CAA62632;EAW68274;EAW68275;EAW68276;EAW68277;EAW68278;EAW68279;NP_001137277;NP_001137278;NP_001137279;NP_001137280;NP_001137281;NP_001137282;NP_001137283;NP_001137284;NP_001137285;NP_001137286;NP_001137288;NP_001700;NP_733927;NP_733928;NP_733929;NP_733930;NP_733931;P23560 Hs.502182 1336800;1731571;1737071;1742497;1774978;1790321;1797316;2144667 BDNF;BDNF-1;BDNF_2411;D11S1270;D11S2825;D11S4115;D11S4429;GDB:197571 ANON2;BULN2;MGC34632 OTTHUMP00000232005;OTTHUMP00000232006;OTTHUMP00000232013;OTTHUMP00000232014;OTTHUMP00000232015;OTTHUMP00000232016;OTTHUMP00000232018;OTTHUMP00000232019;OTTHUMP00000232020;OTTHUMP00000232021;OTTHUMP00000232022;OTTHUMP00000232039;OTTHUMP00000232040;OTTHUMP00000232041;OTTHUMP00000232043;abrineurin;neurotrophin APPROVED protein-coding ENSG00000176697 HGNC:1033 00214 113505;164230;209880;607499;610269 REVIEWED 733440 BECN1 beclin 1, autophagy related Beclin-1 participates in the regulation of autophagy and has an important role in development, tumorigenesis, and neurodegeneration (Zhong et al., 2009 [PubMed 19270693]).[supplied by OMIM, Jul 2010] 17 17 17 q21 37618135 37632364 - 40962150 40976310 - 42810132 42824292 - 634559;1580863;1643194;1643198;1643329;4889529;6480464;6483317;6483074;6483077;6483070;6483094;6483068;6483098;6483072;6483316;6483066;6483048;6483100;6483050;6483046;6483314;6483081;6483101;6483057;6483076;6483096;6483102;6483312;6483313;6483069;6483054;6907045;6483315 15325588;16004578;16697404;16874043;17665967;17936001;18497889;18500386;19138675;19574998;19864570;20034776;20187128;20539009;20823696;20838925;20863706;21270095;21478185;21490676;21592995;21806471;21866636;21926933;22001349;22227058;22306244;22449108;22476098;22521819;9765397 10395800;10604474;11306555;11309306;11564866;12372286;12477932;14966907;14970205;15489334;15922724;16267277;16390869;16417406;16522639;16713569;16718815;16857678;16874027;17203225;17236580;17272502;17337444;17355787;17438366;17441324;17441338;17446862;17550384;17589504;17595761;17643073;17659302;17786023;17999086;18005679;18184403;18184459;18497881;18552835;18628207;18641390;18769161;18797192;18829541;18843052;19050071;19060920;19066461;19130303;19145109;19180116;19218137;19270693;19270696;19289499;19298526;19298604;19318089;19325567;19347031;19372752;19375507;19395874;19520853;19535901;19535919;19556884;19635843;19641499;19680556;19713971;19762066;19778902;19798108;19921231;20004946;20009549;20010695;20023428;20037818;20090905;20150769;20190558;20206246;20207475;20230646;20368806;20454448;20473282;20501938;20559548;20562859;20638385;20639699;20643123;20697744;20711182;20842118;20889974;20921139;20937944;21081164;21203962;21209283;21239722;21241894;21327823;21353614;21358617;21420796;21444671;21499230;21537144;21543763;21556768;21610315;21646862;21654208;21681342;21711108;21722286;21729531;21750416;21769915;21777947;21779982;21861179;21873141;21875280;21890473;21906983;21936852;21962518;21971985;21976705;22039439;22081109;22095667;22147978;22157765;22174682;22219388;22240664;22242123;22248718;22286270;22301112;22310240;22314358;22335943;22392728;22393062;22493499;22498477;22622204;22627130;22648564;22650021;22674982;22733132;22742832;22797916;22805532;22875631;22933281;23029344;23089287;23112296;23125008;23184933;23197835;23216071;23225331;23264393;23316280;23334926;23337876;23420005;23429496;23444126;23478334;23479509;23504944;23525201;23564079;23569248;23573264;23686476;23703612;23722017;23737459;23787295;23790316;23801739;23812859;23827971;23877263;23878393;23880165;23935917;23943370;23974797;24012002;24034250;24056301;24132590;24141421;24145555;24186333;24186908;24260370;24303007;24324106;24324270;24345332;24378767;24440703;24528868;24681041;24760274;24879156;24941712;24980959;24980960;7490091;7829101;8125298 8678 E7EV84;K7EKK2;K7EL88;K7ELY9;K7EMA2;K7EN35;K7EQQ7;K7ER46;K7ERY0;K7ES83;Q14457;W0FFG4 ABBA01006406;ABBA01006407;AC016889;AF077301;AF139131;AK223411;AK298619;AK299616;AK312651;AMYH02033440;AMYH02033441;BC010276;BI496049;BX647788;CH471152;DC296896;KC776730;KF511232;L38932;NM_003766;XM_005257758;XM_005257759;XM_005257760 AAB59573;AAC68653;AAD27650;AAH10276;ABM82559;ABM85749;AHF22836;BAD97131;BAG35534;BAG60798;BAG61544;EAW60888;EAW60889;EAW60890;NP_003757;Q14457;XP_005257815;XP_005257816;XP_005257817 Hs.716464 1654805;1659134;2122816;2122818;2145305;2162511;2185825 A005R43;G20453;RH17649;RH48446;RH48640;STS-U17909;WI-11793 ATG6;VPS30;beclin1 ATG6 autophagy related 6 homolog;beclin 1 (coiled-coil, moesin-like BCL2 interacting protein);beclin 1 (coiled-coil, moesin-like BCL2-interacting protein);beclin 1 (coiled-coil, myosin-like bcl2-interacting protein);beclin-1;coiled-coil myosin-like BCL2-interacting protein APPROVED protein-coding ENSG00000126581 HGNC:1034 05087 604378 VALIDATED 4106408 BECN1P1 beclin 1, autophagy related, pseudogene 1 INVOLVED IN autophagy; endosome to lysosome transport; G-protein coupled receptor catabolic process; FOUND IN cytoplasm (inferred) 1 1 1 q43 215376527 215377822 + 242121069 242122364 + 241957767 241959062 + 16710414;23954414 441925 A8MW95 ABBA01033262;AMYH02003041;BX571673;HM031116;NM_001290693 A8MW95;ADM47406;NP_001277622 Hs.731347 1779926 SHGC-154177 BECN1L1;BECN2 Beclin-1-like protein 1;beclin-2 protein-coding HGNC:38606 615687 VALIDATED 731845 BEGAIN brain-enriched guanylate kinase-associated ENCODES a protein that exhibits kinase activity (inferred); INVOLVED IN phosphorylation (inferred); FOUND IN cytoplasm (inferred); dendrite (inferred); membrane (inferred); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; thapsigargin 14 14 14 q32.2 81058597 81067990 - 101003484 101036131 - 100537147 100569794 - 6480464 10819331;12097487;12477932;15489334;16189514;16713569;16964243;17081983;18029348;20360068;21102462;21832049;21906983;21988832;9756850 57596 G3V2K4;G3V3A2;G3V3R5;G3V3S3;G3V536;G3V600;Q9BUH8 AB040879;ABBA01048525;ABBA01048526;AL390162;AL845552;AMYH02029857;BC002607;BG333264;CH471061;NM_001159531;NM_020836;XM_005267919;XM_005267920;XM_005267921;XM_006720221 AAH02607;ACE87027;ACE87713;BAA95970;CAB99094;EAW81707;EAW81708;NP_001153003;NP_065887;Q9BUH8;XP_005267976;XP_005267977;XP_005267978;XP_006720284 Hs.211751 1666246 STS-AA021302 KIAA1446 OTTHUMP00000246549;OTTHUMP00000246550;OTTHUMP00000246551;OTTHUMP00000246552;OTTHUMP00000246553;OTTHUMP00000246554;OTTHUMP00000246555;brain-enriched guanylate kinase-associated homolog;brain-enriched guanylate kinase-associated protein APPROVED protein-coding ENSG00000183092 HGNC:24163 06459 VALIDATED 1350095 BEND2 BEN domain containing 2 This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which participate in protein and DNA interactions which occur during chromatin restructuring or transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] X X X p22.13 22300374 22358874 - 18181051 18239024 - 18162931 18220904 - 737633;8554872 12477932 15489334;15772651;16713569;19455595;21832049 139105 B3KXX8;Q8NDZ0 ABBA01071613;ABBA01071614;ABBA01071615;AK128155;AL096763;AMYH02038944;AMYH02038945;BC037301;BC096745;BX952865;CH471074;NG_021323;NM_001184767;NM_153346;XM_006724462;Z92547 AAH37301;AAH96745;ABM83396;ABM86609;BAG54640;EAW98936;NP_001171696;NP_699177;Q8NDZ0;XP_006724525 Hs.403802 CXorf20;MGC33653 BEN domain-containing protein 2;OTTHUMP00000022999 APPROVED protein-coding ENSG00000177324 HGNC:28509 06646 VALIDATED 7206870 BEND3P2 BEN domain containing 3 pseudogene 2 9 9 9 q22.31 65369809 65372072 + 94933513 94935776 + 92171231 92173494 + 392368 ABBA01018582;AL136097;AMYH02021218;NG_011923 pseudo HGNC:45015 INFERRED 7206903 BEND3P3 BEN domain containing 3 pseudogene 3 10 10 10 q22.3 74728116 74732168 + 81442731 81448653 + 79682975 79688897 + 16344560 650623 ABBA01020204;AC068139;AL132656;AL603703;AMYH02023404;BX248123;DA227741;DN994631;NR_027512 Hs.730022 1698412 RH102748 pseudo HGNC:45016 PROVISIONAL 1347685 BEND3 BEN domain containing 3 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; ethyl methanesulfonate; methyl methanesulfonate 6 6 6 q21 108134718 108184092 - 107386385 107436371 - 107065181 107115167 - 6480464;8554872 10997877;12477932;17000644;19471022;19615732;21252943;21549307;21693764;21914818;21963094;22242598;22586326;22990118;23455922;23752268;24654937;25027693 57673 Q5T5X7 AB046773;ABBA01026181;ABBA01026182;AK026996;AL355586;AMYH02014249;AMYH02014250;AMYH02014251;BC131628;CH471051;NM_001080450;XM_005267079;XM_005267080;XM_006715532;XM_006715533 AAI31629;BAB13379;EAW48401;NP_001073919;Q5T5X7;XP_005267136;XP_005267137;XP_006715595;XP_006715596 Hs.418045 1678499;1744345;1770682;1770684;5038476 A005Y28;D3S3992;G20599;GDB:451760;RH27230 KIAA1553;RP11-59I9.2 BEN domain-containing protein 3;OTTHUMP00000016928 protein-coding ENSG00000178409 HGNC:23040 VALIDATED 1605502 BEND4 BEN domain containing 4 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); copper atom 4 4 4 p13 42560029 42602526 - 42112870 42154895 - 42110853 42152878 - 6480464;8554872 12477932;14702039 389206 Q6ZU67 AA757195;AB126828;AB126829;ABBA01014283;ABBA01014284;ABBA01014285;AC111006;AK092951;AK125953;AMYH02009105;BC128592;BC128593;CH471069;NM_001159547;NM_207406 AAI28593;AAI28594;AAI46594;AAI48434;BAC86359;BAD93191;BAD93192;EAW93001;NP_001153019;NP_997289;Q6ZU67 Hs.120591 1717233 RH122031 CCDC4;FLJ35632;FLJ43965;MGC157807;MGC157808 BEN domain-containing protein 4;OTTHUMP00000218402;OTTHUMP00000218403;OTTHUMP00000218405;OTTHUMP00000218406;coiled-coil domain containing 4;coiled-coil domain-containing protein 4 protein-coding ENSG00000188848 HGNC:23815 13481 VALIDATED 1314203 BEND7 BEN domain containing 7 FOUND IN extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; cyclosporin A 10 10 10 p13 13407599 13472089 - 13480484 13570587 - 13438484 13528585 - 6480464 12477932;14702039;15164054;15489334;16189514;16385451;19056867;19060904;23382691 222389 Q8N7W2 ABBA01034626;AK097602;AL359172;AL590677;AL832195;AMYH02022179;BC029597;BC031618;CH471072;NM_001100912;NM_152751;XM_005252402;XM_006717401;XM_006717402;XM_006717403;XM_006717404;XM_006717405;XM_006717406;XM_006717407;XM_006717408;XM_006717409;XM_006717410;XM_006717411;XM_006717412;XM_006717413;XM_006717414;XM_006717415;XM_006717416;XM_006717417;XM_006717418;XM_006717419;XM_006717420;XM_006717421;XM_006717422;XR_428634;XR_428635 AAH31618;BAC05114;EAW86285;EAW86286;EAW86287;EAW86288;NP_001094382;NP_689964;Q8N7W2;XP_005252459;XP_006717464;XP_006717465;XP_006717466;XP_006717467;XP_006717468;XP_006717469;XP_006717470;XP_006717471;XP_006717472;XP_006717473;XP_006717474;XP_006717475;XP_006717476;XP_006717477;XP_006717478;XP_006717479;XP_006717480;XP_006717481;XP_006717482;XP_006717483;XP_006717484;XP_006717485 Hs.498740 1666193;1668484;1704776;1704850;1755919;1763229;5014051;5015619;5022200 D11S3114;D8S2278;L18426;RH47609;SHGC-142750;SHGC-146959;SHGC-79854;SHGC-79899;STS-W15426 C10orf30;FLJ40283;MGC35247 BEN domain-containing protein 7;OTTHUMP00000019143;OTTHUMP00000019144 protein-coding ENSG00000165626 HGNC:23514 12570 VALIDATED 1323228 BEST1 bestrophin 1 This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008] 11 11 11 q13 59052654 59067236 + 61717356 61731935 + 61949884 61964463 + 1599738;1580863;6480464;7240710;8547535;8554872;8699517 23701314;9662395 10331951;10394929;10453731;10682987;10737974;10766140;10798642;10854112;11050159;11241846;11271465;11449320;11904445;11913792;12032738;12058047;12107410;12187431;12324875;12477932;12907679;1302019;13129869;1395087;14982938;15176385;15452077;15489334;15556645;15808248;16612637;16707793;16754206;16769844;16885924;17003041;17065513;17110374;17287362;17361457;17468957;17591911;17646752;17698758;18179881;18222922;18400985;18414923;18611979;18766995;18849347;19029375;19237432;19262692;19357557;19372599;19375515;19398034;19597114;19635817;19823864;19853238;20057343;20057903;20238019;20301346;20301590;20349192;20375334;20381869;20530484;20801516;21072067;21077756;21109774;21192766;21203346;21269699;21273940;21293734;21320969;21330666;21436265;21467170;21473666;21498618;21559412;21738390;21809908;21829377;21921978;22162627;22174098;22183384;22183385;22199244;22422030;22448417;22584882;22633354;22675492;23213274;23290749;23572118;23823511;23825107;23880862;24341532;24345323;24560797;24664688;24859690;838599;9445487;9679014;9700209 7439 B7Z1N8;B7Z375;E9PMB5;O76090 AB209451;ABBA01003208;AF057169;AF057170;AF073500;AF073501;AK289681;AK293701;AK294577;AK295450;AK295580;AK295838;AK295998;AK298747;AK301392;AK309076;AMYH02024884;AP003733;AY515704;BC015220;BC041664;CA388926;CH471076;JQ954696;NG_009033;NM_001139443;NM_001300786;NM_001300787;NM_004183;XM_005274210;XM_005274213;XM_005274215;XM_005274216;XM_005274217;XM_005274218;XM_005274219;XM_005274221;XM_006718676;XM_006718677;XM_006718678;XM_006718679;XM_006718680;XR_247211 AAC33766;AAC64343;AAC64344;AAC64926;AAH15220;AAH41664;AAR99654;AFR11385;BAD92688;BAF82370;BAH11574;BAH11817;BAH12072;BAH12111;BAH12198;BAH12234;BAH12865;BAH13472;EAW73982;EAW73983;EAW73984;EAW73985;EAW73986;EAW73987;EAW73988;NP_001132915;NP_001287715;NP_001287716;NP_004174;O76090;XP_005274267;XP_005274270;XP_005274272;XP_005274273;XP_005274274;XP_005274275;XP_005274276;XP_005274278;XP_006718739;XP_006718740;XP_006718741;XP_006718742;XP_006718743 Hs.524910;Hs.712676 1849750;1855697;2178702;5015861;5017170;5023353;5109281;5109777;5118576;7185938 D10S16;D11S3430;D11S3983;D1S1425;D1S2060E;D8S467;L29953;STS-L20941;WI-15952 ARB;BEST;BMD;RP50;TU15B;VMD2 Best disease;Best1V1Delta2;OTTHUMP00000235994;OTTHUMP00000235998;OTTHUMP00000235999;OTTHUMP00000236000;bestrophin-1;vitelliform macular dystrophy (best disease, bestrophin);vitelliform macular dystrophy protein 2 APPROVED protein-coding ENSG00000167995 HGNC:12703 01094 153700;193220;607854;608161;611809;613194 REVIEWED 1344321 BEST4 bestrophin 4 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008] 1 1 1 p33-p32.3 43532138 43536307 - 45247831 45253648 - 44782157 44787976 - 1580863;6480464 12032738;12477932;12907679;15489334;16702355;16710414;19237432;20467438;24223998;9700209 266675 Q8NFU0 ABBA01050909;AF440757;AL592166;AMYH02000918;AY515707;BC101823;BM142321;CH471059;NM_153274;XM_005270748 AAI01824;AAM76996;AAR99657;EAX07022;NP_695006;Q8NFU0;XP_005270805 Hs.302513 MGC126872;VMD2L2 OTTHUMP00000010157;bestrophin-4;vitelliform macular dystrophy 2-like 2;vitelliform macular dystrophy 2-like protein 2 APPROVED protein-coding ENSG00000142959 HGNC:17106 09549 607336 REVIEWED 1321272 BEND6 BEN domain containing 6 ENCODES a protein that exhibits RNA polymerase II transcription corepressor activity; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; dimethyl sulfoxide; progesterone 6 6 6 p12.1 58482926 58555295 + 56819773 56892450 + 56954975 57027652 + 6480464;8554872 12477932;14702039 221336 Q5SZJ8;Q5SZK0 ABBA01050487;ABBA01050488;AI803591;AK054724;AK303705;AK315926;AL450489;AL590037;AMYH02013783;BC022988;BC036119;CH471081;DC411761;NM_152731;XM_005248889;XM_005248890 AAH22988;AAH36119;BAB70799;BAH14024;BAH14297;EAX04469;NP_689944;Q5SZJ8;XP_005248946;XP_005248947 Hs.582993 1672080;1679197;1685952;1743231;5092884 G11929;G32391;GDB:306287;RH67080;RH94322 C6orf65;FLJ30162;bA203B9.1 BEN domain-containing protein 6;OTTHUMP00000016659;OTTHUMP00000016661 protein-coding ENSG00000151917 HGNC:20871 12893 VALIDATED 1606228 BEND5 BEN domain containing 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); INTERACTS WITH atrazine; fonofos; isotretinoin 1 1 1 p33 47479547 47528540 - 49193538 49242547 - 48727866 48776875 - 6480464;8554872 12477932;14702039;15489334;16169070;16189514;16713569;17207965;21832049;24722188;8889548 79656 Q7L4P6 ABBA01050796;AC097062;AK021650;AK055449;AK096573;AMYH02000982;BC007932;BC011804;BQ006447;BU743157;BX096297;CD579580;CD672851;CH471059;HI574312;NM_001302082;NM_024603;XM_005271199;XM_006710895;XM_006710896;XM_006710897 AAH07932;AAH11804;ADQ32714;BAB13864;BAG51519;CBX47645;EAX06848;EAX06849;EAX06850;EAX06851;EAX06852;NP_001289011;NP_078879;Q7L4P6;XP_005271256;XP_006710958;XP_006710959;XP_006710960 Hs.475348 1337883;1724773;1781452;2116701 D1S2724;RH122593;SHGC-112093;SHGC-74765 C1orf165;FLJ11588 BEN domain-containing protein 5;OTTHUMP00000009852 protein-coding HGNC:25668 VALIDATED 1343861 BEVI baboon M7 virus integration site 628 HGNC:1035 109180 1313368 BEST2 bestrophin 2 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 12753118 12758983 + 12862600 12869272 + 12751786 12758458 + 1580863;6480464 11904445;12032738;12477932;12907679;14702039;16912113;19237432;19398034;20157619;20407206;22360420;24223998;8125298;9700209 54831 H0YIH1;Q8NFU1 ABBA01029774;AC018761;AF440756;AK000139;AK225232;AMYH02035556;AY515705;CH471106;NM_017682;XM_005259963 AAM76995;AAR99655;BAA90970;EAW84304;NP_060152;Q8NFU1;XP_005260020 Hs.435611 FLJ20132;VMD2L1 OTTHUMP00000240705;OTTHUMP00000240706;VMD2-like gene 1;bestrophin-2;vitelliform macular dystrophy 2-like 1;vitelliform macular dystrophy 2-like protein 1 APPROVED protein-coding ENSG00000039987 HGNC:17107 607335 REVIEWED 1352390 BEX4 brain expressed, X-linked 4 This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011] X X X q22.1-q22.3 102909028 102911131 + 102469996 102472128 + 103215092 103217200 + 737633;1580863;6480464 12477932 14702039;15772651;15958283;16221301;21139048;21890473 56271 Q9NWD9 ABBA01021024;AI199874;AK000959;AL035494;AL544124;AMYH02040168;AV726729;AY833563;BC015794;BC068069;CH471190;NG_021339;NM_001080425;NM_001127688 AAI48485;AAI56671;AAX40681;BAA91443;EAW54719;EAW54721;NP_001073894;NP_001121160;Q9NWD9 Hs.184736 1690762;2115841 RH46879;RH80982 BEXL1;FLJ10097 BEX family member 4;BEX1-like protein 1;OTTHUMP00000023728;OTTHUMP00000023729;brain expressed X-linked-like 1;nerve growth factor receptor-associated protein 3 APPROVED protein-coding ENSG00000102409 HGNC:25475 300692 REVIEWED 1602713 BET1L Bet1 golgi vesicular membrane trafficking protein-like ENCODES a protein that exhibits SNAP receptor activity; INVOLVED IN retrograde transport, endosome to Golgi; FOUND IN endosome; Golgi apparatus; membrane; INTERACTS WITH 17beta-estradiol; bucladesine; copper(2+) sulfate 11 11 11 p15.5 351440 355953 + 202924 207422 - 202924 207422 - 6480464 11042152;11181995;11323436;11927603;12388752;12477932;14702039;15004235;15215310;15231747;15489334;16344560;18029348;19820697;19946888;21460842;21832049;21906983;21963094;21988832;22286173;22504420;23604678;23892540;24026423;24816145;8619474;9110174;9242691 51272 B8ZZS0;E9PHY4;E9PQJ6;H7BXT7;Q9NYM9 ABBA01011167;AC069287;AF151031;AF234160;AK022958;AK314273;AL833842;AMYH02024127;AY007148;BC000688;BC008971;BC016945;BC018839;BC032779;BC064025;CH471278;DA875317;DA880679;NM_001098787;NM_016526 AAF36117;AAF37877;AAG02004;AAH08971;AAH32779;ACE86980;ACE87669;BAG51142;NP_001092257;NP_057610;Q9NYM9 Hs.414418 2117080 RH16003 BET1L1;GOLIM3;GOS-15;GS15;HSPC197 BET1-like protein;BET1L {ECO:0000312|HGNC:HGNC:19348};OTTHUMP00000147612;OTTHUMP00000147613;OTTHUMP00000228523;OTTHUMP00000228524;OTTHUMP00000228525;blocked early in transport 1 homolog (S. cerevisiae)-like;blocked early in transport 1 homolog-like;golgi SNARE 15 kDa protein;golgi SNARE with a size of 15 kDa;golgi integral membrane protein 3;vesicle transport protein GOS15 APPROVED protein-coding ENSG00000177951 HGNC:19348 16547 615417 VALIDATED 732892 BET1 Bet1 golgi vesicular membrane trafficking protein This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q21.1-q22 88319269 88331959 - 93592082 93633693 - 93962770 94004381 - 1580863;6480464;8554872 10449330;11323436;11927603;12477932;12690205;12853948;15489334;16189514;17081983;19946888;21139048;21890473;21906983;21963094;21987572;22773346;22939629;23251661;8621431;9094723;9382863;9847074 10282 C9JTT8;H7C1N3;O15155;Q53XK0;Q68DU7 ABBA01045786;AC006378;AF007551;AK313984;AMYH02016285;BC000899;BC012595;BG721261;BT009853;BX505568;CH236949;CH471091;CR749267;NM_005868;XM_005250109 AAB62941;AAD47132;AAH00899;AAH12595;AAP88855;ABM85004;BAG36696;CAH18123;EAL24137;EAW76800;EAW76801;EAW76802;EAW76803;NP_005859;O15155;XP_005250166 Hs.489132 1671695;1713659;2114528;2133757;2185115;5022578;5022651;5037552 A004G30;D11S2921;D1S1423;D8S2279;G30358;RH120712;RH18332;RH78705 DKFZp781C0425;HBET1 BET1 homolog;Bet1p homolog;Golgi vesicular membrane trafficking protein p18;OTTHUMP00000163010;OTTHUMP00000208603;OTTHUMP00000208604;OTTHUMP00000208605;OTTHUMP00000208606;blocked early in transport 1 homolog;golgi vesicular membrane-trafficking protein p18 APPROVED protein-coding ENSG00000105829 HGNC:14562 16107 605456 REVIEWED 1343764 BEX1 brain expressed, X-linked 1 ENCODES a protein that exhibits RNA polymerase II activating transcription factor binding; INVOLVED IN positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; FOUND IN transcription factor complex; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; copper(2+) sulfate X X X q22.1 102756620 102758207 - 102317581 102319168 - 103062653 103064240 - 1580863;6480464 11989783;12054873;12477932;12911636;15489334;15772651;15920485;15958283;16221301;16314316;16498402;16818640;19028701;21890473;21900206;22053931;23362108;24333734 55859 Q9HBH7 ABBA01021002;AF183416;AF220189;AF237783;AK290958;AL008708;AMYH02040164;AMYH02040165;AY833561;BC018615;BC105298;BC126427;BC126429;BM465948;BX098763;CH471190;NM_018476 AAF67654;AAG09685;AAG09752;AAI26428;AAI26430;AAX40679;ADR83467;BAF83647;EAW54723;NP_060946;Q9HBH7 Hs.334370 2171059;5123915;5493829 RH18267;UniSTS:495179;WI-11354 BEX2;HBEX2;HGR74-h OTTHUMP00000024309;brain-expressed X-linked protein 1;ovarian granulosa cell 13.0 kDa protein hGR74 protein-coding ENSG00000133169 HGNC:1036 06460 300690 VALIDATED 1313470 BEST3 bestrophin 3 BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008] 12 12 12 q14.2-q15 69711071 69756899 - 70037334 70093196 - 69643508 69699416 - 1580863;6480464;8554872 12032738;12477932;12907679;14702039;15342556;15489334;16344560;17442670;19237432;22863734;9700209 144453 E9PNM2;F8VR37;F8VVX2;F8VZR0;Q8N1M1 ABBA01026536;ABBA01026537;AC016153;AC018921;AC025263;AF440758;AK096459;AMYH02026713;AY515706;BC006440;BC028087;BC151138;BF739974;BP225850;BX374313;CH471054;DA767581;NM_001282613;NM_001282614;NM_001282615;NM_001282616;NM_032735;NM_152439;NR_104220;XM_005268674;XM_006719251;XM_006719252;XM_006719253;XM_006719254;XM_006719255;XM_006719256 AAH06440;AAI66663;AAM76997;AAR99656;BAC04797;EAW97232;EAW97233;EAW97234;EAW97235;NP_001269542;NP_001269543;NP_001269544;NP_001269545;NP_116124;NP_689652;Q8N1M1;XP_005268731;XP_006719314;XP_006719315;XP_006719316;XP_006719317;XP_006719318;XP_006719319 Hs.280782 1678521;1698504;1715433;2117248;2125860;2125862;2141358;2147038;2185018;5019807 A009W40;D12S1816;G32926;RH102802;RH120549;RH44577;RH44642;RH93788;SHGC-33073;SHGC-34028 MGC13168;MGC40411;VMD2L3 OTTHUMP00000195114;OTTHUMP00000233491;OTTHUMP00000240995;OTTHUMP00000240996;bestrophin-3;vitelliform macular dystrophy 2-like 3;vitelliform macular dystrophy 2-like protein 3 APPROVED protein-coding ENSG00000127325 HGNC:17105 17484 607337 VALIDATED 1350233 BFLS Borjeson-Forssman-Lehmann syndrome ASSOCIATED WITH Borjeson-Forssman-Lehmann syndrome (inferred) 7240710 630 HGNC:1039 301900 1353223 BEX2 brain expressed X-linked 2 This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q22 103003273 103004973 - 102564274 102565974 - 103309346 103311046 - 737633;1580863;6480464 12477932 12054873;15489334;15772651;15958283;16189514;16221301;16314316;16818640;17251904;17638883;19412433;19711341;19835597;20482821;21384344;21890473;22053931;22698742;22907646;23022184 84707 Q9BXY8;X6RDN0 ABBA01021037;AF251053;AK312085;AL133348;AMYH02040168;AY833560;BC015522;BC050651;BI670202;BU569325;BU596902;CB961647;CD365521;CH471190;CK001963;DB498563;NG_016254;NM_001168399;NM_001168400;NM_001168401;NM_032621;Z70233 AAH15522;AAK34943;AAX40678;BAG35021;CAD24039;EAW54715;EAW54716;NP_001161871;NP_001161872;NP_001161873;NP_116010;Q9BXY8 Hs.398989 2174623 WI-15922 BEX1;DJ79P11.1;hBex2 OTTHUMP00000023734;OTTHUMP00000023735;OTTHUMP00000023736;brain-expressed X-linked protein 2 APPROVED protein-coding ENSG00000133134 HGNC:30933 06484 300691 REVIEWED 1348519 BEX5 brain expressed, X-linked 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; cyclosporin A; valproic acid X X X q22.1 101929239 101931548 - 101408679 101410986 - 102153707 102156014 - 737633;6480464;8554872 12477932 15489334;15772651;15958283;16221301;18236150 340542 Q5H9J7 ABBA01045059;AI985090;AMYH02040073;AY833564;BC042818;BC092450;BC106955;CH471115;NM_001012978;NM_001159560;Z70719 AAH42818;AAH92450;AAI06956;AAX40682;EAX02903;NP_001012996;NP_001153032;Q5H9J7 Hs.47209 1648127 SHGC-37409 MGC104434;MGC126446;NGFRAP1L1 BEX family member 5;NGFRAP1-like 1;NGFRAP1-like protein 1;OTTHUMP00000023705;brain-expressed X-linked protein 5;nerve growth factor receptor-associated protein 2 protein-coding ENSG00000184515 HGNC:27990 18484 300693 VALIDATED 1312438 BFAR bifunctional apoptosis regulator ENCODES a protein that exhibits structural molecule activity (inferred); zinc ion binding (inferred); INVOLVED IN negative regulation of apoptotic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 2-methylcholine; arsenous acid; diarsenic trioxide 16 16 16 p13.12 14903443 14939870 + 14726668 14763093 + 14632811 14669236 + 1580863;6480464;8554872 10716992;12477932;14502241;15489334;18805781;19549727;19690564;20523265;21068390;21890473;21906983;21963094;22566094 51283 H3BMP2;H3BMY8;H3BPQ8;H3BRQ5;H3BSU2;H3BTG6;H3BUB3;Q9NZS9 ABBA01006895;ABBA01006896;AC009167;AC243753;AF173003;AK291114;AK297067;AK300778;AK313890;BC003054;BI912683;BU621058;CH471112;NM_016561;XM_005255350;XM_006725196 AAF59975;AAH03054;ABM81574;ABM84754;BAF83803;BAG36613;BAG59588;BAG62442;EAW85105;EAW85106;EAW85107;EAW85108;EAW85109;NP_057645;Q9NZS9;XP_005255407;XP_006725259 Hs.435556 2120376;2128057;2143871;2164606 D16S2565E;RH48705;SHGC-61074;STS-M78938 BAR;RNF47 OTTHUMP00000160285;RING finger protein 47;bifunctional apoptosis inhibitor protein-coding ENSG00000103429 HGNC:17613 16548 VALIDATED 737302 BFSP1 beaded filament structural protein 1, filensin This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 p12.1 17549027 17614092 - 17474550 17549865 - 17493905 17569220 - 1580863;6480464;7240710;8699517;8554872 10909854;11780052;12477932;1478967;17225135;18029348;1918147;21145461;24319337;24379646;7504675;7615661;7679620;7720401;7781747;9628810;9787085 631 B7Z999;B7ZAD2;Q12934 ABBA01054022;ABBA01054023;ABBA01054024;ABBA01054025;AC010083;AF039655;AK304673;AK316247;AL031664;AL132765;AMYH02036766;AMYH02036767;AMYH02036768;BC041483;BF727338;BQ230198;CH471133;NG_012423;NM_001161705;NM_001195;NM_001278606;NM_001278607;NM_001278608;U12622;Y16717;Y16718;Y16723 AAA74423;AAB94939;AAH41483;BAH14235;BAH14618;CAA76348;CAA76349;EAX10277;EAX10278;NP_001155177;NP_001186;NP_001265535;NP_001265536;NP_001265537;Q12934 Hs.129702 CP115;CP94;CTRCT33;LIFL-H OTTHUMP00000030329;OTTHUMP00000062713;beaded filament structural protein 1;cytoskeletal protein, 115 KD;filensin;lens fiber cell beaded-filament structural protein CP 115;lens intermediate filament-like heavy APPROVED protein-coding ENSG00000125864 HGNC:1040 04494 603307;611391 REVIEWED 1347093 BFSP2 beaded filament structural protein 2, phakinin More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009] 3 3 3 q22.1 131545338 131620496 + 133118790 133194056 + 133399995 133475212 + 1600516;1580863;6480464;7240710;8554872;8699517 10729115 10739768;10753642;12477932;15489334;15570218;17200662;17982427;18029348;18958306;21836522;7504675;7720401;8636093;8889548;9628810 8419 Q13515 ABBA01059169;ABBA01059170;ABBA01059171;ABBA01059172;AC022296;AC055753;AF195044;AMYH02007700;AMYH02007701;AMYH02007702;AMYH02007703;BC113518;BC113520;BM667774;BM696370;BM696550;CH471052;GN344037;NG_012425;NM_003571;U12621;U48224 AAC50414;AAG30728;AAI13519;AAI13521;ADR83175;CAY55954;EAW79178;EAW79179;NP_003562;Q13515 Hs.659862 1725389;1727413;2148762;2154950 G63114;RH119012;RH70648;STS-N29638 CP47;CP49;CTRCT12;LIFL-L;MGC142078;MGC142080 49 kDa cytoskeletal protein;OTTHUMP00000216298;PHAKOSIN;beaded filament protein CP49;bfps2, Cytoskeletal protein, 49-kD;lens fiber cell beaded filament protein CP 47;lens fiber cell beaded filament protein CP 49;lens intermediate filament-like light;phakinin APPROVED protein-coding ENSG00000170819 HGNC:1041 04444 603212;611597 REVIEWED 619567 BGLAP bone gamma-carboxyglutamate (gla) protein ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN osteoblast differentiation; response to vitamin D; PARTICIPATES IN fibroblast growth factor signaling pathway; ASSOCIATED WITH Arthritis, Rheumatoid; Calcinosis; Crohn Disease; FOUND IN cytoplasm; INTERACTS WITH (S)-nicotine; 17alpha-ethynylestradiol; 17beta-estradiol 1 1 1 q22 129284933 129286094 + 156211951 156213123 + 156242160 156243332 + 1580863;2316184;6480464;6483581;6483557;6483566;6483579;6483580;6483549;6483561;6483542;6484113;6483568;6483578;6483546;6483593;6483595;6483600;6483321;6483563;6483594;6483599;6483552;7207412;7207422;7207408;7207232;7207414;7207224;7207424;7207225;7205481;7207229;7207235;7207248;7207410;7207231;7207409;7207419;8554872;9068449 12376805;12565780;12674322;12697366;15108065;15747054;16114020;16622660;17365904;18422975;19494718;19641839;20157712;20197689;20845051;21041817;2106357;21387139;21406003;21482072;21550389;21760737;21784896;21908029;22120694;22294259;22447331;22535626;22573557;22989431;3105848;3488088;7920889;9347246;9661594;9850345 10393081;10419538;10486212;10865224;11199188;11396736;11574953;11856645;11918225;11979972;12112004;12145306;12202187;12270142;12393937;12467198;12477932;12674332;12843190;12879219;15108070;15502821;15562030;15753298;15949438;16263577;16387359;16412323;16735944;17000892;17023519;17242729;17252541;17254772;17627084;17889845;18160010;18163903;18171674;18285546;18321663;18496130;18551993;18657532;19031822;19063687;19088165;19136823;19453261;19595020;19732762;19751416;19751417;19767102;19856264;19877133;20139978;20200947;20221651;20305683;20355242;20395593;20410230;20433876;20501596;20562864;20574675;20577791;20587710;20592451;20625700;20694489;20831864;21153019;21169728;21178793;21292339;21301010;21333348;21353261;21425331;21427224;21487672;21521304;21521333;21558934;21590731;21713451;21935388;21944272;21964930;21968268;22034088;22068385;22068892;22102412;22136751;22219025;22517558;22577088;22615158;22652825;22679141;22735266;22752126;22773701;22842327;22978420;23001602;23135318;23137636;23162093;23206207;23261860;23342952;2336375;23386651;23485732;23512417;23553865;23616149;23696116;23788330;2394711;24037881;24078129;24113735;24167545;24219294;24455828;24465160;24503413;24606073;24801588;24842726;2785029;3019668;6967872;7768973;9076588 632 P02818 ABBA01016665;AL135927;AMYH02001968;BC113432;BC113434;BU622466;CA428336;CH471121;CS025626;CS185557;DQ007079;HD117875;HH735900;NM_199173;X04143;X51699;X53698 AAI13433;AAI13435;AAY16981;ADR82791;CAA27763;CAA35996;CAA37736;CAI61690;CAJ42738;CBW53724;CBX74359;EAW52986;NP_954642;P02818 Hs.654541 1794720;1857036;2113674;2120254;2127136;2150829;5493377 A003B36;AB055289;PMC351321P3;RH11125;RH12024;STS-X04143;UniSTS:485876 BGP;OC;OCN;PMF1 OTTHUMP00000016586;bone Gla protein;bone gamma-carboxyglutamate (gla) protein (osteocalcin);gamma-carboxyglutamic acid-containing protein;osteocalcin protein-coding HGNC:1043 00205 112260 VALIDATED 8661321 BGLT3 beta globin locus transcript 3 (non-protein coding) p15.4 24837367 103344929 AY034471;BU658638;KF110790;NR_121648 Hs.295459 BGL3;LINC01083;lncRNA-BGL3 ncrna HGNC:49033 VALIDATED 737524 BGN biglycan The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to two other small proteoglycans, decorin and fibromodulin. The encoded protein and decorin are thought to be the result of a gene duplication. Decorin contains one attached glycosaminoglycan chain, while this protein probably contains two chains. For this reason, this protein is called biglycan. This protein plays a role in assembly of collagen fibrils and muscle regeneration. It interacts with several proteins involved in muscular dystrophy, including alpha-dystroglycan, alpha- and gamma-sarcoglycan and collagen VI, and it is critical for the assembly of the dystrophin-associated protein complex. [provided by RefSeq, Nov 2009] X X X q28 152994048 153008701 + 152760347 152775004 + 153494889 153509546 + 1580863;6480464 10383378;10684260;10854409;11076863;11145944;11256614;11259413;11598131;11709279;11723132;11979972;12070165;12140283;12153565;12354766;12387878;12477932;12538652;14702039;15031262;15173106;15372625;15489334;15489336;15546867;15775969;16051607;1612609;16344560;16381901;16434404;16807372;16883602;16938379;16989735;17097211;17120779;17269742;17516017;18029348;18602826;1860845;18620607;18621549;18694824;18701807;18988796;19056867;19379665;19422643;19453261;19502413;19523462;19580379;1968422;20367117;20382708;20591478;2059554;21029365;21185747;21397694;21702857;21879307;21913799;21969569;21998129;22095710;2212616;22329809;22374465;22479366;22582394;22982459;23007878;23393390;24051360;24228112;24257755;2590169;2647739;3597437;7607653;7793988;7852349;7881444;8093006;8093671;8125298;8178833;8440685;9731537;9848887;9880804 633 A6NLG9;B4DNL4;C9JKG1;P21810;Q8NAB7 ABBA01045388;AI538325;AI570205;AK092954;AK093023;AK094059;AK222484;AK223302;AK291955;AK293268;AK293289;AK297966;AK298756;AMYH02040836;AU142113;AX148653;BC002416;BC004244;BT007323;CH471172;DC299956;DC419932;DC425011;J04599;M65151;M65153;NG_015961;NM_001711;U11686;U82695 AAA36009;AAA52287;AAC50117;AAH02416;AAH04244;AAP35987;ABM82824;ABM86010;BAC04007;BAD96204;BAD97022;BAF84644;BAG52637;BAG52806;BAG56798;BAG56813;BAG60276;BAG60898;CAC41201;CAL37481;CAL38559;EAW72861;EAW72862;EAW72863;EAW72864;EAW72865;NP_001702;P21810 Hs.821 1686740;1702710;1725625;2144807;2152487;2166135;5016946 DXS9901;G28556;G62027;GDB:192507;RH75559;RH91107;STS-M65154 DSPG1;PG-S1;PGI;SLRR1A OTTHUMP00000025928;OTTHUMP00000025930;biglycan proteoglycan;bone/cartilage proteoglycan I;bone/cartilage proteoglycan-I;dermatan sulphate proteoglycan I;small leucine-rich protein 1A APPROVED protein-coding ENSG00000182492 HGNC:1044 02359 301870 REVIEWED 737550 BHLHA15 basic helix-loop-helix family, member a15 ENCODES a protein that exhibits protein homodimerization activity (inferred); RNA polymerase II regulatory region sequence-specific DNA binding (inferred); RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (inferred); INVOLVED IN calcium-mediated signaling (inferred); cell maturation (inferred); cell-cell signaling (inferred); PARTICIPATES IN maturity onset diabetes of the young pathway; FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; genistein; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 q21.3 92535465 92536170 + 97840759 97844769 + 98212254 98212959 + 6480464;6907045 12477932;12617822;12690205;12853948;14516699;15489334;16645041;18557763;20038531;20382342;20709804;21098683;21907708;22354994;22374815;22495370;9073453;9482738 168620 Q7RTS1 ABBA01045734;AC091654;AMYH02016322;BC113394;BC113396;BK000276;CH236956;NM_177455 AAI13395;AAI13397;DAA01056;EAL23893;NP_803238;Q7RTS1 Hs.674510 5493017 UniSTS:483772 BHLHB8;MIST-1;MIST1 OTTHUMP00000205455;basic helix-loop-helix domain containing, class B, 8;class A basic helix-loop-helix protein 15;class B basic helix-loop-helix protein 8;class II bHLH protein MIST1;muscle, intestine and stomach expression 1 protein-coding ENSG00000180535 HGNC:22265 16356 608606 VALIDATED 2302834 BHLHA9 basic helix-loop-helix family, member a9 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH potassium dichromate (ortholog) 17 17 17 p13.3 1187225 1187932 + 1173858 1174565 + 1270564 1271271 + 6480464 12617822;14516699;18557763;22147889;23035971 727857 Q7RTU4 ABBA01054652;ABBA01054653;AC032044;AC144836;AMYH02032733;BK000140;NM_001164405 DAA00302;NP_001157877;Q7RTU4 Hs.723790 BHLHF42 OTTHUMP00000163050;class A basic helix-loop-helix protein 9;class F basic helix-loop-helix factor 42;class II basic helix-loop-helix protein protein-coding HGNC:35126 615416 PROVISIONAL 1347976 BHLHB9 basic helix-loop-helix domain containing, class B, 9 This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] X X X q23 102414680 102446406 + 101975642 102008468 + 102720714 102752441 + 1303981;1580863;6480464 15034937 11214970;12477932;16221301;16344560;19056867;21139048;21832049;21890473;23000965;8619474;9110174 80823 Q6PI77 AB051488;ABBA01020964;ABBA01020965;ABBA01020966;ABBA01020967;ABBA01020968;AF035288;AF547055;AL035427;AMYH02040161;BC041409;CH471190;DA104939;DA211842;DA218716;DA326404;DA397309;DA398982;DA494496;DA718424;NG_021340;NM_001142524;NM_001142525;NM_001142526;NM_001142527;NM_001142528;NM_001142529;NM_001142530;NM_030639 AAH41409;AAQ12077;BAB21792;EAW54726;NP_001135996;NP_001135997;NP_001135998;NP_001135999;NP_001136000;NP_001136001;NP_001136002;NP_085142;Q6PI77 Hs.4276 1659996;1682618;1787252;2184264;5016851 A008N06;DXS7007E;RH78520;RH80031;SHGC-143390 GASP3;KIAA1701;p60TRP OTTHUMP00000023715;OTTHUMP00000023716;p60-like protein;transcription regulator of 60 kDa APPROVED protein-coding ENSG00000198908 HGNC:29353 10028 300921 REVIEWED 1313486 BHLHE22 basic helix-loop-helix family, member e22 BHLHE22 belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. These proteins function as dimers and bind to an E-box DNA sequence (CANNTG). BHLHE22 is expressed exclusively in the central nervous system and retina (Xu et al., 2002 [PubMed 12213201]).[supplied by OMIM, Jul 2010] 8 8 8 q13 61482821 61486193 + 65492795 65496191 + 64580238 64583634 + 1580863;6480464 12213201;12477932;12617822;14516699;14702039;18557763;9225980 27319 B4DF88;Q8NFJ8 AA927689;ABBA01041852;AC090136;AF504925;AI867692;AI968349;AK091333;AK293979;AMYH02018086;AW206610;BC033056;BC045748;BK000273;CH471068;NM_152414 AAI56672;AAM28881;BAG57349;DAA01053;EAW86876;NP_689627;Q8NFJ8 Hs.388788;Hs.591870;Hs.745052 1739361;1797322;2177326;2177328;2177330;5493801 BHLHB5_2248;D8S1572E;RH47310;RH77917;RH77918;UniSTS:494896 BHLHB5;Beta3;CAGL85;TNRC20 OTTHUMP00000226588;basic helix-loop-helix domain containing, class B, 5;class B basic helix-loop-helix protein 5;class E basic helix-loop-helix protein 22;trinucleotide repeat containing 20;trinucleotide repeat-containing gene 20 protein APPROVED protein-coding ENSG00000180828 HGNC:11963 16551 613483 VALIDATED 1346145 BHLHE23 basic helix-loop-helix family, member e23 This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013] 20 20 20 q13.33 58313980 58315036 - 61637331 61638387 - 63005979 63007035 - 6480464 11780052;11863370;12136098;12477932;12617822;14516699;15363390;18557763 128408 Q8NDY6 ABBA01021378;AJ328944;AL121673;AMYH02037446;BC137288;BC137308;BK000274;CH471077;NM_080606 AAI37289;AAI37309;DAA01054;EAW75311;EAW75312;NP_542173;Q8NDY6 Hs.551230 BETA4;BHLHB4;bA305P22.3 OTTHUMP00000031526;basic helix-loop-helix domain containing, class B, 4;class B basic helix-loop-helix protein 4;class E basic helix-loop-helix protein 23 APPROVED protein-coding ENSG00000125533 HGNC:16093 16550 609331 REVIEWED 68659 BHLHE40 basic helix-loop-helix family, member e40 This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014] 3 3 3 p26 4959047 4964811 + 5021097 5026866 + 4979412 4985181 + 625726;1580863;6480464;6484113 12397359 10449910;10737769;11226878;11278694;11668339;11688991;12119049;12297495;12354771;12384505;12477932;12624110;12754744;14672706;15193144;15223310;15489334;15560782;15719173;15994878;16136500;16169070;16344560;16462771;16487626;16878149;17347673;17376295;17487425;18025081;18029348;18228528;18345027;18411297;18557763;19322201;19471022;19590847;19693801;19786558;19913121;20072116;20174623;20628086;20863812;20936779;21327324;21528084;21693764;21829689;21867633;21906983;21963094;21979947;21987572;21988832;22678901;22905217;23220548;23426649;23445622;24722188;9240428 8553 O14503;Q6IB83 AA632164;AB004066;AB043885;ABBA01020463;AC090955;AK293205;AK309173;AK312509;AMYH02006188;BC068292;BC082238;BI962730;CH471055;CR456921;DB144350;EF015895;HI574236;NM_003670 AAH82238;ABM64206;ABZ92197;BAA21720;BAB18565;BAG35410;BAG56745;CAG33202;CBX47607;EAW63916;EAW63917;NP_003661;O14503 Hs.744856 1664307;1735262;1770912;1797318 BHLHB2_2101;D3S2920E;D3S3912;SHGC-37025 BHLHB2;DEC1;FLJ99214;HLHB2;SHARP-2;STRA13;Stra14 OTTHUMP00000147574;basic helix-loop-helix domain containing, class B, 2;basic helix-loop-helix domain containing, class b2;class B basic helix-loop-helix protein 2;class E basic helix-loop-helix protein 40;differentially expressed in chondrocytes 1;differentially expressed in chondrocytes protein 1;differentiated embryo chondrocyte expressed gene 1;enhancer-of-split and hairy-related protein 2;stimulated by retinoic acid gene 13 protein APPROVED protein-coding ENSG00000134107 HGNC:1046 16050 604256 REVIEWED 6908992 BHLHE40-AS1 BHLHE40 antisense RNA 1 3 3 p26 4938493 5021646 - 4898226 4906501 - 14702039 100507582 ABBA01020465;ABBA01020466;AC018816;AK056892;AK311159;AK311646;AMYH02006184;DA948054;HG495401;HG495402;HG495403;HG495404;KF573690;NR_037903;NR_125914;NR_125915;NR_125916 Hs.434505 5020948;5022200;5022588 D5S1597E;G35510;L18426 AC018816.4 ncrna ENSG00000235831 HGNC:44471 VALIDATED 731061 BHLHE41 basic helix-loop-helix family, member e41 This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014] 12 12 12 p12.1 31419506 31424550 - 26272959 26278003 - 26120026 26125070 - 625726;1580863;6480464;6484113 12397359 11058868;11162494;11278948;12354771;12477932;12624110;12657651;14672706;15193144;15560782;16287852;17194498;17487425;18223678;18228528;18345027;18411297;18557763;19029947;19679812;19786558;19839995;19913121;20072116;20174623;20628086;20821348;21129405;21327324;21693764;22355045;22572381;22801492;23637228;24165159;24561520 79365 B7Z8M6;Q8TAT1;Q9C0J9 AB044088;ABBA01068030;ABBA01068031;AC022509;AJ270695;AK303677;AK311258;AMYH02026232;AW500664;AY665466;AY665467;BC025968;CH471094;EF015896;NG_012011;NG_021173;NM_030762 AAH25968;AAV54601;AAV54602;ABM64207;BAB21502;BAH14012;EAW96527;EAW96528;NP_110389;Q9C0J9 Hs.177841 1651384;1680851;1699592;1797320 BHLHB3_2085;RH103397;RH80435;STS-R68240 BHLHB3;DEC2;SHARP-1;SHARP1;hDEC2 OTTHUMP00000240318;basic helix-loop-helix domain containing, class B, 3;class E basic helix-loop-helix protein 41;differentially expressed in chondrocytes 2;differentially expressed in chondrocytes protein 2;enhancer-of-split and hairy-related protein 1 APPROVED protein-coding ENSG00000123095 HGNC:16617 16204 606200;612975 REVIEWED 9479475 BHMG1 basic helix-loop-helix and HMG box domain containing 1 INTERACTS WITH chloroprene (ortholog) 19 19 19 q13.32 43049081 43073496 + 46236515 46267376 + 45739630 45759490 + 6480464 388553 ABBA01040949;ABBA01040950;AC074212;AMYH02036207;BI463439;BQ215245;DV080301;DV080302;NR_038267 Hs.721835 protein-coding HGNC:44318 MODEL 1346951 BHMT betaine--homocysteine S-methyltransferase This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008] 5 5 5 q14.1 74300507 74323326 + 78407604 78428113 + 79111781 79132290 + 1580863;6480464;6907045;7242425;7242426;7242428 20346934;20814827;23073625 10075673;10529246;11223523;11516176;11883905;12071701;12220488;12475213;12477932;12749058;12818402;15122900;15489334;16189514;16344560;1657504;16816108;16953798;17035141;17119116;17376725;17436311;17705221;17993766;18000879;18029348;18230605;18230680;18262489;18427977;18457970;18498552;18635682;18676680;18708404;18830263;18988749;19048631;19161160;19170196;19336437;19493349;19625176;19635752;19683694;19692168;19737740;19777601;19913121;19936946;19948975;20031554;20346360;20453000;20458436;20628086;20634891;20662904;20664391;20737570;21093336;21349258;21564312;21565678;21630102;21988832;22138536;22339686;22339736;23378610;23645037;23720494;8798461;8889548;9281325;9681996 635 E5RJH0;Q93088;V9HWA4 ABBA01062002;ABBA01062003;ABBA01062004;AC008502;AF118371;AF118372;AF118373;AF118374;AF118375;AF118376;AF118377;AF118378;AK298308;AK303780;AK315224;AMYH02011639;AY325901;BC012616;BM678994;CH471084;DA370221;EU794592;NG_029156;NM_001713;U50929 AAC50668;AAD22043;AAH12616;AAQ90058;ACJ13646;BAG37653;BAG60562;BAG64739;EAW95831;EAW95832;NP_001704;Q93088 Hs.80756 1656439;1658462;1671780;1684940;1687548;1773092;2158259;2218308 BHMT_54.2;RH16250;RH35961;RH80672;RH91498;SGC33609;SHGC-33971;SHGC-56646 BHMT1;HEL-S-61p OTTHUMP00000135297;betaine homocysteine methyltransferase;betaine--homocysteine S-methyltransferase 1;betaine-homocysteine methyltransferase;epididymis secretory sperm binding protein Li 61p APPROVED protein-coding ENSG00000145692 HGNC:1047 04200 602888 REVIEWED 1352435 BHMT2 betaine--homocysteine S-methyltransferase 2 Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 5 5 5 q13 74258430 74278792 + 78365547 78385897 + 79069724 79090074 + 1580863;6480464;8554872 11087663;12477932;12818402;14702039;15489334;16712791;18230605;18427977;18457970;18635682;19048631;19056867;19161160;19493349;19737740;19913121;19948975;20458436;20628086;20634891;20662904;21564312;21832049;23378610;23720494 23743 E5RGH5;E5RH96;Q9H2M3 ABBA01062002;AC008502;AC020937;AF257473;AK000008;AK298298;AK315520;AMYH02011639;BC020665;CB140104;CH471084;NG_029157;NM_001178005;NM_017614 AAG41356;AAH20665;ABM82296;ABM85476;BAA90880;BAG37901;BAH12752;EAW95827;EAW95828;EAW95829;EAW95830;NP_001171476;NP_060084;Q9H2M3 Hs.114172 1697742;2109083;2129883;5015961;5016478;5022322;5022578;5109281 BHMT2_9396;D11S2560;D15S1477;D1S1423;D1S1425;GDB:434012;RH102393;RH46927 FLJ20001 OTTHUMP00000135298;OTTHUMP00000222849;S-methylmethionine--homocysteine S-methyltransferase BHMT2;SMM-hcy methyltransferase;betaine-homocysteine methyltransferase 2 APPROVED protein-coding HGNC:1048 12069 605932 REVIEWED 1316665 BICC1 BicC family RNA binding protein 1 This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009] 10 10 10 q21.1 53537852 53853737 + 60272774 60591194 + 58513016 58831435 + 6480464;8554872 11231089;14702039;15465627;16385451;20379614;20516156;21922595;22910460;23251661;23322567;23396134;24789909;8125298;8889548 80114 A6NGY7;Q9H694 ABBA01019441;ABBA01019442;ABBA01019443;AC012168;AC012472;AC023170;AK026129;AK130049;AK225427;AK225429;AK307780;AMYH02023156;AMYH02023157;AY726586;BM972104;BQ014634;BX538102;CF242850;CH471083;NG_029759;NM_001080512;XM_005270166;XM_005270167;XM_005270168;XM_005270169;XM_005270170 AAI56901;BAB15369;EAW54176;EAW54182;NP_001073981;Q9H694;XP_005270223;XP_005270224;XP_005270225;XP_005270226;XP_005270227 Hs.100261;Hs.158745;Hs.633222 1705556;1779114;1850061;1856757;2172504;2180925 D10S1581;G17501;RH77835;SHGC-37463;SHGC-83883;WI-18264 BICC;CYSRD;DKFZp686I21119;bic-C FGFR2-BICC1 fusion kinase protein;OTTHUMP00000019636;bicaudal C homolog 1 APPROVED protein-coding ENSG00000122870 HGNC:19351 601331;614295 REVIEWED 1319790 BICD1 bicaudal D homolog 1 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 p11.2-p11.1 12081147 12351535 + 32259713 32536567 + 32106779 32383633 + 6480464;8554872 12401177;12447383;12477932;12522145;12892780;14702039;15489334;16320833;16344560;16473624;17043677;17101644;17139249;17562788;17707369;18487243;19010793;19596235;19825938;19851299;20080650;20164183;20379614;20686608;20709820;21988832;23251661;8530100;9367685 636 A8MVZ6;F8VZX7;F8W056;Q96G01;U3KQF7 AA207154;AA249429;ABBA01031717;ABBA01031718;ABBA01031719;ABBA01031720;ABBA01031721;ABBA01031722;ABBA01031723;ABBA01031724;ABBA01031725;ABBA01031726;ABBA01031727;AC016954;AC026356;AC048344;AC087245;AC087316;AK095648;AK290188;AK313430;AL117598;AMYH02026294;AMYH02026295;AMYH02026296;AMYH02026297;AMYH02026298;AMYH02026299;AMYH02026300;AU132680;BC010091;BC047110;BC136372;CH471116;LK938713;NM_001003398;NM_001714;U90028;U90030;XM_005253465;XM_005253466;XM_006719134;XR_242898 AAB94805;AAB94806;AAI36373;BAF82877;EAW88532;EAW88533;EAW88534;NP_001003398;NP_001705;Q96G01;XP_005253522;XP_005253523;XP_006719197 Hs.505202;Hs.633204 1644885;1681133;1684371;1689474;1714841;1733582;1733608;1754739;2107893;2129681;2155880;2156018;2174452;2179659;5494118 BICD1_8231;D12S1308;D12S911;D12S934;D20S431;RH120415;RH66618;RH92916;RH93400;RH94291;SHGC-133101;SHGC-64856;STS-AA018216;WI-5606;fj02h10.x1 BICD OTTHUMP00000240725;OTTHUMP00000240726;OTTHUMP00000240727;bic-D 1;cytoskeleton-like bicaudal D protein homolog 1;protein bicaudal D homolog 1 APPROVED protein-coding ENSG00000151746 HGNC:1049 03730 602204 REVIEWED 1352041 BICD2 bicaudal D homolog 2 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008] 9 9 9 q22.31 65915700 65969136 - 95473645 95527083 - 92711363 92764801 - 6480464;8699517;7240710;8554872 11483508;11864968;12401177;12447383;12477932;14609947;15144186;15164053;15302935;15489334;15592455;16417406;16473624;16964243;17081983;17139249;18029348;18976975;19596235;19615732;20360068;21139048;22190034;22589738;22956769;23097494;23664116;23664119;23664120;24816145;9734811 23299 Q8TD16;Q96FU2 AB014599;ABBA01018592;ABBA01018593;ABBA01018594;AL136981;AL137074;AMYH02021225;AY052562;BC004296;BC010428;BC073970;CH471089;NG_033908;NM_001003800;NM_015250 AAH04296;AAH10428;AAH73970;AAL12246;BAA31674;EAW62829;NP_001003800;NP_056065;Q8TD16 Hs.436939 1650891;1662827;1662829;1668594;1677422;1746009;2109085 A002D08;BICD2_9337;G06234;G19949;RH121891;RH91165;WI-17979 KIAA0699;SMALED2;bA526D8.1 OTTHUMP00000022790;OTTHUMP00000022791;bic-D 2;coiled-coil protein BICD2;cytoskeleton-like bicaudal D protein homolog 2;homolog of Drosophila bicaudal D;protein bicaudal D homolog 2 APPROVED protein-coding ENSG00000185963 HGNC:17208 09826 609797;615290 REVIEWED 1346183 BID BH3 interacting domain death agonist This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] 22 22 22 q11.1 1836614 1876916 - 18216906 18257431 - 17734140 17774665 - 1580863;2313998;2314029;2314002;2317560;2317561;2317562;4143170;4143196;4143171;6480464;6484113;6907045;8554872 15943879;17403612;18090083;18931364;19239902;19641503;19888517;19940077;19961901 10089877;10364179;10629050;10950869;11085743;11099414;11114298;11399776;11544326;11583622;11583631;11585909;11741882;11790791;11805084;11832478;11929871;11940658;11971973;12000759;12061801;12097160;12193163;12196516;12404116;12419244;12477932;12598529;12624108;12754217;12766488;12804595;12808108;12871587;12934063;14581476;14583606;14702039;14716828;14769944;15024076;15117953;15123718;15146197;15173176;15231831;15323553;15353804;15461802;15489334;15501827;15520201;15574335;15592455;15615731;15637055;15659383;15692567;15694340;15721256;15772077;15809076;16077201;16167175;16172118;16341674;16344560;16380381;16475813;16485030;16697956;16908521;16964285;16987815;17052454;17200714;17226776;17283187;17289999;17308307;17431792;17488272;17534194;17549073;17635912;17666167;17762183;17765974;17855051;18029348;18089817;18165867;18166654;18173728;18195012;18297401;18309324;18317451;18373075;18469004;18593990;18648372;18665919;18723680;18838202;18925930;19029793;19046991;19052714;19074440;19074885;19219602;19233849;19246452;19381674;19423537;19454696;19640637;19641510;19670908;19711428;19820711;19890662;19913121;19918914;19929986;20140092;20187936;20356928;20379614;20392206;20404718;20453000;20628086;20801175;20802294;20855536;20877624;21041309;21060336;21072056;21113148;21139048;21148306;21178828;21223573;21367852;21382479;21613222;21642428;21751259;21856753;21859891;21900206;21906983;22052011;22115752;22130162;22189507;22213163;22246181;22339673;22354970;22393005;22416135;22464442;22860893;22939629;22964611;23019260;23192964;23333919;23352961;23364796;23383273;23418437;23604079;23744079;23824909;23851982;24038028;24074954;24158446;24398548;24645842;7774948;7929347;8918887;9463381;9721221;9727491;9727492;9790773 637 A8ASI8;B2ZP79;B3KT21;P55957 ABBA01001430;ABBA01001431;ABBA01001432;AC006285;AC016026;AF042083;AF087891;AF250233;AF370380;AK094795;AK313729;AMYH02038013;AMYH02038014;AMYH02038015;AMYH02038016;AY005151;AY309922;BC009197;BC022072;BC033634;BC036364;BM561391;BM842561;BQ068464;CH471193;CN277529;CQ786436;CR407603;CR456389;D89803;DA007047;DA158889;DA274603;DB167767;EU447348;EU678292;EU678293;EU678294;NM_001196;NM_001244567;NM_001244569;NM_001244570;NM_001244572;NM_197966;NM_197967 AAC34365;AAF89091;AAH09197;AAH22072;AAH33634;AAH36364;AAO32633;AAP50259;AAP97190;AAQ15216;ABZ92041;ACA61804;ACD47106;ACD47107;ACD47108;BAF79673;BAG36471;BAG52933;CAG17894;CAG28531;CAG30275;CAK54378;CAK54677;EAW57770;EAW57771;EAW57772;EAW57773;EAW57774;NP_001187;NP_001231496;NP_001231498;NP_001231499;NP_001231501;NP_932070;NP_932071;P55957 Hs.591054 1651664;1685752;1729187;1743413;5015619;5015861;7185938 D10S16;D11S3114;GDB:316037;RH92974;SHGC-36512;p1087L10.C1 FP497;MGC15319;MGC42355 BH3-interacting domain death agonist;BID isoform ES(1b);BID isoform L(2);BID isoform Si6;Human BID coding sequence;OTTHUMP00000196194;OTTHUMP00000196195;OTTHUMP00000196197;OTTHUMP00000241218;apoptic death agonist;desmocollin type 4;p22 BID APPROVED protein-coding ENSG00000015475 HGNC:1050 03590 601997 REVIEWED 1347683 BIK BCL2-interacting killer (apoptosis-inducing) The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011] 22 22 22 q13.31 27417143 27436106 + 43506754 43525718 + 43110748 43129712 + 1580863;2314029;6480464 19641503 10381623;10381646;10500065;10591208;10974546;11342619;11375329;11782349;11884414;12477932;12853473;12874789;14983013;15342556;15461802;15489334;15694340;15721256;15731089;15767553;15791210;15809295;15824729;16060964;16189514;16341674;16697956;17027756;17047080;17289999;17574210;17714764;18299962;18519826;18636124;19632297;19641504;19767753;19898928;19913121;20379614;20564319;20628086;20855536;21063407;21613222;21622563;21743057;21832049;21906983;21988832;22139380;22288719;22388352;22795130;22855140;22873408;24527759;24554662;7478623;8521816;8816500;9130713;9463381;9488477;9525867 638 Q13323 ABBA01017908;ABBA01017909;AF174424;AL022237;AMYH02038471;AY245248;BC001599;BM765910;BP329261;BT006728;CH471138;CR456390;CR541863;CR541883;NM_001197;U34584;U49730 AAC50413;AAC79124;AAF01156;AAH01599;AAO61089;AAP35374;ABM84664;ABM84671;ABM92195;CAA18260;CAG30276;CAG46661;CAG46681;CAK54379;CAK54678;EAW73282;EAW73283;EAW73284;NP_001188;Q13323 Hs.475055 1298134;1298166;1298206;2108709 BIK_7754;D6S1017;D6S1021;D6S1031 BIP1;BP4;NBK OTTHUMP00000198290;apoptosis inducer NBK;apoptosis-inducing NBK;bcl-2-interacting killer APPROVED protein-coding ENSG00000100290 HGNC:1051 04547 603392 REVIEWED 732350 BIN1 bridging integrator 1 This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Sep 2011] 2 2 2 q14 121117653 121176919 - 127805599 127864903 - 127048023 127107327 - 1580043;1580047;704404;704405;1580863;6480464;7240710;8554872;8699517 10652430;12532338 10036185;10094488;10380878;10391921;10412034;10430869;10449755;10738240;10764771;10899172;10903846;11032017;11076863;11230166;11256614;11306501;11384986;11422041;11709703;12183633;12456676;12477932;12558988;12604805;12668730;12773571;12972505;14702039;14704274;15207703;15302935;15483625;15489336;15992821;16115810;16169070;16275660;16381901;16516635;16530520;17059209;17081983;17210688;17218774;17244534;17474147;17611416;17671430;17676042;17699764;18029348;18154705;18348166;18658220;18817572;18985028;19004523;19144635;19322201;19418541;19629135;19851296;19915558;20140253;20142620;20169111;20198315;20211142;20460622;20558387;20927630;21059989;21129173;21220176;21321396;21347408;21379329;21390209;21447796;21460840;21460841;21623381;21627779;21678469;21832049;21984944;22005930;22281836;22539578;22544318;22810585;22832961;22863883;22976291;23202439;23570733;23754947;23803295;23871436;24162737;24205320;25036637;8619474;8725406;8782822;8889548;9110174;9182529;9182667;9195986;9223448;9280305;9315708;9341169;9348539;9356459;9395479;9418903;9603201;9736607 274 B7Z6Y2;O00499;Q9BTH3 ABBA01040216;AC012508;AF001383;AF004015;AF043898;AF043899;AF043900;AF043901;AF068914;AF068915;AF068916;AF068917;AF068918;AF070576;AK127325;AK295300;AK301153;AL713697;AMYH02004729;BC004101;BM711160;BT006865;CF594020;CH471103;NG_012042;NM_004305;NM_139343;NM_139344;NM_139345;NM_139346;NM_139347;NM_139348;NM_139349;NM_139350;NM_139351;U68485;U83999;U84004;U87558;XM_005263642;XM_005263643;XM_005263644;XM_005263645;XM_005263646;XM_005263647;XM_005263648;XM_006712424;XM_006712425;XM_006712426;XM_006712427;XM_006712428;XM_006712429;XM_006712430;XM_006712431;XM_006712432;XM_006712433;XM_006712434 AAB61363;AAB63263;AAC17461;AAC23440;AAC23441;AAC23750;AAC23751;AAC24126;AAC24127;AAC24128;AAC28646;AAC39710;AAC39711;AAC39712;AAC39713;AAC51345;AAH04101;AAP35511;AAY24328;ACE86592;BAH12028;BAH13418;CAD28496;CAL37828;EAW95286;EAW95287;EAW95288;EAW95289;EAW95290;EAW95291;EAW95292;EAW95293;EAW95294;EAW95295;EAW95296;EAW95297;EAW95298;EAW95299;EAW95300;EAW95301;EAW95302;EAW95303;EAW95304;EAW95305;EAW95306;EAW95307;NP_004296;NP_647593;NP_647594;NP_647595;NP_647596;NP_647597;NP_647598;NP_647599;NP_647600;NP_647601;O00499;XP_005263699;XP_005263700;XP_005263701;XP_005263702;XP_005263703;XP_005263704;XP_005263705;XP_006712487;XP_006712488;XP_006712489;XP_006712490;XP_006712491;XP_006712492;XP_006712493;XP_006712494;XP_006712495;XP_006712496;XP_006712497 Hs.193163 1665983;1713797;1723301;1734790;1792646;2145088;2219030 BIN1__4446;D2S1563E;G29312;PMC156129P2;RH120786;RH122339;STS-AA039724 AMPH2;AMPHL;DKFZp547F068;MGC10367;SH3P9 OTTHUMP00000162177;OTTHUMP00000162178;OTTHUMP00000162179;OTTHUMP00000162180;OTTHUMP00000162181;OTTHUMP00000162182;OTTHUMP00000162183;OTTHUMP00000162184;OTTHUMP00000162185;OTTHUMP00000203785;OTTHUMP00000203786;amphiphysin II;amphiphysin-like protein;box dependant MYC interacting protein 1;box-dependent myc-interacting protein 1;myc box dependent interacting protein 1;myc box-dependent-interacting protein 1 APPROVED protein-coding ENSG00000136717 HGNC:1052 03150 255200;601248 REVIEWED 1315604 BIN2 bridging integrator 2 ENCODES a protein that exhibits phospholipid binding; INVOLVED IN cell chemotaxis; membrane tubulation; phagocytosis, engulfment; FOUND IN phagocytic cup; podosome; INTERACTS WITH cytarabine; cisplatin (ortholog); dibutyl phthalate (ortholog) 12 12 12 q13 50476304 50519423 - 51674822 51718446 - 51281038 51324198 - 6480464 10903846;12477932;14702039;15489334;16541075;20379614;21044950;21782286;21890473;23285027;24816145;8125298 51411 B7Z6F3;F5H0W4;Q9UBW5;S4R3J0;S4R418 AB032698;AB032710;ABBA01031609;ABBA01031610;ABBA01031611;AC046135;AF146531;AK000783;AK093638;AK225911;AK300211;AK314304;AMYH02026484;AMYH02026485;BC047686;BG388638;BX281612;CB996605;CH471111;DB035315;NM_001290007;NM_001290008;NM_001290009;NM_016293;XM_005268957;XM_005268958 AAD54227;AAH47686;BAA88108;BAA88125;BAA91376;BAG36957;BAH13239;EAW58186;EAW58187;EAW58188;NP_001276936;NP_001276937;NP_001276938;NP_057377;Q9UBW5;XP_005269014;XP_005269015 Hs.14770 1696968;1707290;2135947;2170747 D12S1811;G21352;RH101956;SHGC-79249 BRAP-1 breast cancer associated protein BRAP1;breast cancer-associated protein 1;bridging integrator-2 protein-coding ENSG00000110934 HGNC:1053 05805 605936 VALIDATED 5686997 BIN2P1 bridging integrator 2 pseudogene 1 4 4 4 q21.22 80486871 80488822 + 83196002 83197953 + 82274849 82276800 + 345258 ABBA01063426;AC116631;AMYH02009594;NG_022065 1696968 RH101956 pseudo HGNC:43660 INFERRED 5686996 BIN2P2 bridging integrator 2 pseudogene 2 5 5 5 q13.3 71099537 71100849 + 75206381 75207693 + 75910556 75911868 + 644601 ABBA01061948;AC108120;AMYH02011597;NG_021885 1757915 SHGC-146848 pseudo HGNC:43661 INFERRED 1317921 BIN3 bridging integrator 3 The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008] 8 8 8 p21.3 21439785 21488652 - 22477931 22526661 - 22620418 22669148 - 1580863;6480464 11274158;12477932;14702039;14993925;15489334;16344560;16524918;17207965;17353931;18654987;22505724;8125298 55909 E5RGB5;E5RHU4;E5RJI6;H7BYV6;Q9NQY0 ABBA01005526;AC037459;AC105046;AF271732;AK001289;AK023980;AK090446;AK124486;AK222470;AMYH02017594;AMYH02017595;BC001223;BC009824;BC050314;CH471080;DA480525;KF458708;NM_018688;XM_005273573 AAF76218;AAH01223;AAH09824;ADQ31692;BAA91603;BAB14751;BAC03427;BAD96190;EAW63650;EAW63651;EAW63652;EAW63653;EAW63654;EAW63655;EAW63656;NP_061158;Q9NQY0;XP_005273630 Hs.433722 1336126;1758887;1786742;2147159;2152812;5014051;5015619;5037552 D11S3114;D8S1733;D8S2278;D8S2279;RH47796;RH48987;SHGC-150806;SHGC-155287 MGC14978 OTTHUMP00000225122;OTTHUMP00000225124;OTTHUMP00000225126 APPROVED protein-coding ENSG00000147439 HGNC:1054 05904 606396 REVIEWED 2307244 BIN3-IT1 BIN3 intronic transcript 1 (non-protein coding) 8 8 8 p21.3 21459738 21461576 - 22497884 22499722 - 22640371 22642209 - 12477932;14702039;21832049 80094 Q9H7X8 ABBA01005526;AC037459;AK024169;AMYH02017595;BC013100;CH471080;DN996902;NR_027715 AAH13100;BAB14845;EAW63657 Hs.675917 APPROVED ncrna HGNC:25868 07850 VALIDATED 1347209 BIRC2 baculoviral IAP repeat containing 2 The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 11 11 11 q22 99379519 99410957 + 102217913 102249401 + 102347182 102378670 + 1580863;1643526;1643527;1643528;1643529;6480464;6484113;6907045;7800730;8554872 12208731;12218061;16504151;17154176;23085193 10404221;10753917;10929712;11084335;11106668;11181075;11562359;11583623;11604410;11906213;11907583;12209092;12243753;12388702;12477932;12525502;12571250;12603340;12651874;12761501;12851723;12865429;12867425;12867997;12887920;12888921;14708638;14960576;14960583;15078891;15183896;15187025;15218035;15318034;15353805;15359644;15489334;15501771;15580265;15665297;15707590;15861135;15911110;16080516;16180223;16189514;16263936;16282325;16339151;16344560;16510124;16701639;16775178;16775419;16891304;16929535;16983704;17069460;17220297;17613533;17626072;17822677;17993464;18022362;18022363;18082613;18230607;18239673;18414036;18434593;18566024;18570872;18621506;18621737;18676680;18775313;18827186;18846111;18931663;18939944;19011619;19029953;19153467;19154529;19170196;19223549;19258326;19336370;19373254;19397698;19416853;19464198;19506082;19567200;19584093;19690564;19692168;19698783;19720604;19810754;19815541;19854138;19893574;19913121;20005846;20078866;20097753;20184394;20348096;20447407;20458734;20562859;20614026;20628086;20667824;20932475;20951133;20957035;20972266;21041727;21048031;21048196;21113135;21139048;21331077;21393245;21414315;21525013;21549626;21628460;21653699;21795072;21817100;21849505;21890473;21903422;21906983;21931591;21963094;21987572;21988832;22021857;22117219;22212761;22274400;22403404;22434933;22493164;22505724;22591684;22607974;22711539;22733500;22815481;22927431;22990857;23000965;23007157;23085658;23109427;23201124;23250032;23269702;23275033;23453969;23524849;23535732;23605047;23732909;23918987;23972990;24008361;24008839;24083782;24093940;24194568;24276241;24371121;24382102;24422988;24425875;24633224;24726327;24975362;25065467;8125298;8548810;8552191;8643514;8938457;8943045;9384571;9545235;9642260;9705938;9892732 329 E9PI77;E9PIW1;E9PMH5;E9PNM6;E9PQZ9;H0YDY3;Q13490 ABBA01039934;ABBA01039935;AK225856;AK303197;AK313446;AMYH02025483;AMYH02025484;AP000942;BC016174;BC028578;BX647978;CH471065;DA094075;DA115985;DQ068066;KF455475;L49431;NM_001166;NM_001256163;NM_001256166;U37547;U45879 AAC41942;AAC50372;AAC50508;AAH16174;AAH28578;AAY46158;ABM83310;ABM86522;BAG36235;BAG64288;EAW67018;NP_001157;NP_001243092;NP_001243095;Q13490 Hs.696238;Hs.731943 1650274;1682615;1711338;1775376;1792892;2106961;2125309;2158682 A002E11;BIRC2_7224;D11S4286;PMC166414P1;RH11632;RH98380;SHGC-84924;WI-18122 API1;HIAP2;Hiap-2;IAP-2;MIHB;RNF48;c-IAP1;cIAP1 IAP homolog B;NFR2-TRAF signalling complex protein;OTTHUMP00000235704;OTTHUMP00000235706;OTTHUMP00000235707;RING finger protein 48;TNFR2-TRAF-signaling complex protein 2;apoptosis inhibitor 1;baculoviral IAP repeat-containing 2;baculoviral IAP repeat-containing protein 2;inhibitor of apoptosis protein 2 APPROVED protein-coding ENSG00000110330 HGNC:590 03419 601712 REVIEWED 732624 BIRC3 baculoviral IAP repeat containing 3 This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011] 11 11 11 q22 99349739 99370012 + 102188181 102210134 + 102317450 102339403 + 1580863;1643526;6480464;6484113;6907045;7800730 17154176;23085193 10233894;10610122;10753917;10862606;10929712;11066071;11084335;11466612;11562359;11583623;11604410;11724934;11906213;11907583;11960389;12082024;12161039;12243753;12393423;12477932;12525502;12539042;12571250;12651604;12651874;12815069;12865429;12867425;12926068;14527959;14562112;14685266;14708638;14960576;15023888;15037009;15078890;15078891;15175157;15183896;15218035;15310755;15353805;15363040;15489334;15494311;15598810;15665297;15696476;15845643;15856013;15861135;15982633;16123224;16142363;16189514;16282325;16339151;16356540;16395399;16395405;16467195;16510124;16701639;16761316;16775419;16799641;16813569;16891304;16983704;16984419;17069460;17133355;17179183;17613533;17626072;17927572;17972100;17993464;18195037;18216531;18508827;18566024;18570872;18621737;18676680;18768389;18775313;18784070;18931663;18939944;18953427;19011619;19029953;19060847;19170196;19223549;19234489;19243308;19302291;19336370;19358671;19416853;19464198;19625176;19690564;19692168;19698783;19763917;19810754;19815541;19913121;19923725;20063052;20078866;20079017;20097753;20237496;20385093;20447407;20453000;20547836;20562859;20576118;20628086;20691152;20855536;20863547;20940148;20957035;20959404;21048031;21113135;21116278;21152357;21229359;21273489;21331077;21393245;21628460;21653699;21795072;21817100;21849505;21865390;21869827;21881048;21890473;21931591;21963223;21988832;22068233;22083956;22195745;22403404;22434933;22493164;22607974;22820591;22902369;23032264;23052480;23243274;23250032;23259674;23364796;23453969;23524849;23535732;23543740;23558524;23612708;23770847;23867815;23871895;23918987;23972990;24008361;24008839;24194568;24266799;24371121;24425875;24464131;24552816;24633224;25015289;25065467;8548810;8552191;8643514;8938457;8943045;9384571;9545235;9642260;9705938;9892732 330 H0YCJ5;Q13489 AA805622;AA873008;ABBA01039935;ABBA01039936;AF070674;AF178945;AI880555;AMYH02025482;AP000942;AY764389;BC027485;BC037420;BE907592;BG569841;BQ718651;BU428906;BX415415;BX475964;CH471065;HI574220;HI574222;L43346;L49432;NM_001165;NM_182962;U37546;U45878 AAC41943;AAC50371;AAC50507;AAC83232;AAG09369;AAH37420;AAU88144;CBX47599;CBX47600;EAW67017;NP_001156;NP_892007;Q13489 Hs.127799 1694610;1722093;1792894;1793534;1857510;2138843;2164725;2183725 A007H38;G43312;G60088;PMC166414P2;PMC229255P1;RH79205;SGC33804;SHGC-31347 AIP1;API2;CIAP2;HAIP1;HIAP1;IAP-1;MALT2;MIHC;RNF49;c-IAP2 IAP homolog C;OTTHUMP00000235699;OTTHUMP00000235700;OTTHUMP00000235701;RING finger protein 49;TNFR2-TRAF signaling complex protein;TNFR2-TRAF-signaling complex protein 1;apoptosis inhibitor 2;baculoviral IAP repeat-containing 3;baculoviral IAP repeat-containing protein 3;inhibitor of apoptosis protein 1;mammalian IAP homolog C APPROVED protein-coding ENSG00000023445 HGNC:591 03426 601721 REVIEWED 737482 BIRC5 baculoviral IAP repeat containing 5 This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 17 17 17 q25 72806306 72817744 + 76210277 76221716 + 78214196 78225635 + 1580863;2293092;2293101;2293104;2293122;2293138;2293090;2293102;2293108;2293137;2293106;2293125;2293136;2293094;2293096;2293097;2293105;2293126;2293098;2293131;2293135;2293100;2293103;2293109;2293129;2293139;2293091;2298935;2298940;2298936;2298937;2298939;2293093;2293095;2293099;6480464;6907045;9586043;9479074;8554872 11150435;12115583;12604914;12854136;15081314;15453988;16421596;16803539;17086357;17240580;17285241;17363528;17364499;17441339;17559031;17701349;17804712;17828507;17877643;17890889;17905101;17938867;18055328;18089718;18159002;18171606;18172282;18227733;18246794;18336887;18386577;18451232;18567002;19726343;23642229 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332 H3BLT4;K7ELG2;K7EMW2;K7EP76;O15392 AB028869;AB154416;ABBA01002938;AC087645;AF077350;AI800528;AK223428;AK301793;AK311917;AL519719;AL547142;AMYH02034050;AY795969;AY830084;AY927772;BC000784;BC008718;BC034148;BC065497;BE537971;BG178974;BG759111;BI254058;BI520186;BM476145;BQ687404;CB112371;CH471099;CR541740;DQ227257;DQ310375;DQ310376;DQ310377;DQ310378;DQ310379;DQ508245;DQ508246;DQ508247;DQ508248;DQ508249;HM625836;JA362594;NG_029069;NM_001012270;NM_001012271;NM_001168;U75285;XR_243654 AAC51660;AAD34226;AAH08718;AAH34148;AAH65497;AAV40840;AAW22624;AAY15202;ABB76601;ABC42341;ABC42342;ABC42343;ABC42344;ABC42345;ABF60110;ABF60111;ABF60112;ABF60113;ABF60114;ADM26643;BAA93676;BAD11155;BAD97148;BAG34858;BAH13555;CAG46540;CAL38006;CCA94579;EAW89511;EAW89512;EAW89513;EAW89514;NP_001012270;NP_001012271;NP_001159;O15392 Hs.744872 1795222;5014051;5021872;5022651;5037552;5095949;5109362;5109559 BIRC5_44;D11S2921;D17S1239;D17S1443E;D8S2278;D8S2279;STS-L26245;sY3084 API4;EPR-1 apoptosis inhibitor 4;apoptosis inhibitor survivin;baculoviral IAP repeat-containing 5;baculoviral IAP repeat-containing protein 5;survivin variant 3 alpha APPROVED protein-coding ENSG00000089685 HGNC:593 04520 603352 REVIEWED 1316326 BIRC6 baculoviral IAP repeat containing 6 This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008] 2 2 2 p22.3 32426891 32688789 + 32581735 32843966 + 32356667 32618899 + 1580863;1580055;6480464;6907045;8554872 15457181 10544019;10574462;12168954;12477932;14702039;14765125;15200957;15300255;15314180;15507451;15781261;16196087;18329369;18414036;18654987;19223905;19946888;20800603;20819778;20957035;21139048;21542283;21788403;21890473;21906983;21963094;21987572;22027771;22053931;22085301;22113938;22505724;22553342;22586326;22788920;22863883;23000965;23287853;24255178;24302728;24453032;24816145;25015289;7566098;8889548;9628897 57448 H7C094;H7C3P0;Q9NR09 AA315620;AB033115;ABBA01074887;ABBA01074888;ABBA01074889;ABBA01074890;ABBA01074891;ABBA01074892;ABBA01074893;ABBA01074894;ABBA01074895;AC079837;AF265555;AK023788;AK023848;AL133243;AL133245;AL133246;AMYH02003547;AMYH02003548;AMYH02003549;AMYH02003550;AMYH02003551;AMYH02003552;AMYH02003553;AMYH02003554;BM674459;BX345326;BX371410;BX411219;CA418956;CH471053;KF456646;KF456651;KF456652;KF456654;KF456655;KF456656;KF456657;KF456658;KF456659;KF456660;KF510809;NM_016252;XM_005264449;XM_005264450;XM_005264451;XM_005264452;XM_005264453;XM_005264454;XM_005264455;XM_006712054;XM_006712055;XM_006712056;XM_006712057;XR_244950 AAF75772;BAA86603;BAB14679;BAB14700;EAX00443;EAX00444;EAX00445;EAX00446;EAX00447;NP_057336;Q9NR09;XP_005264506;XP_005264507;XP_005264508;XP_005264509;XP_005264510;XP_005264511;XP_005264512;XP_006712117;XP_006712118;XP_006712119;XP_006712120 Hs.150107 1685876;1686682;1693598;1700920;1713255;1718041;1739029;1778161;1792898;1847475;1853188 A004S04;D2S1883;PMC166414P4;RH104087;RH120618;RH122637;RH81018;RH99067;SHGC-37671;SHGC-58506;STS-AA018958 FLJ13726;FLJ13786;KIAA1289 APOLLON;BIR repeat-containing ubiquitin-conjugating enzyme;BRUCE;OTTHUMP00000197747;baculoviral IAP repeat-containing 6;baculoviral IAP repeat-containing protein 6;ubiquitin-conjugating BIR domain enzyme apollon;ubiquitin-conjugating BIR-domain enzyme apollon APPROVED protein-coding ENSG00000115760 HGNC:13516 05731 605638 REVIEWED 6769738 BIRC6-AS1 BIRC6 antisense RNA 1 p22.3 22196729 100874009 AL133245;BG572630 pal3 APPROVED ncrna HGNC:40641 9068615 BIRC6-AS2 BIRC6 antisense RNA 2 p22.3 22196729 103752586 BX093813;NR_125793 Hs.666092 linc-birc6;megamind ncrna HGNC:50490 VALIDATED 1345581 BIRC7 baculoviral IAP repeat containing 7 This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013] 20 20 20 q13.3 58544759 58549338 + 61867235 61871859 + 63235883 63240507 + 1580863;6480464 11024045;11084335;11162435;11322947;11780052;11801603;11865055;12477932;12488298;12620238;12975309;14614456;15009721;15489334;15541814;16026775;16437214;16729033;16806840;16840203;16965834;16990595;17035597;17294084;17437058;17519534;17613533;17632732;17672950;17968430;18031611;18034418;18210873;18278467;18315896;18451137;18476630;18515985;18555709;18827979;18837095;19074843;19397802;19549727;19549891;19635196;19690982;19724862;19806913;19914791;20109966;20237496;20388502;20416174;20460713;20584688;20607788;20691667;20717925;21113135;21122381;21617971;21700335;21867610;21867615;22033581;22086237;22427141;22711539;22766624;22902369;22930255;22931613;22932199;22938441;23029054;23030305;23069480;23188704;23343959;23404657;23480510;23524337;23563149;23632777;23781587;23906305;24008725;24023847;24220265;24287698;24295240;25090821;8889548 79444 A8MTF4;Q96CA5 ABBA01021393;AF301009;AF311388;AJ309298;AL121827;AMYH02037451;AY358835;AY358836;AY517497;BC014475;BU737800;CH471077;NG_029552;NM_022161;NM_139317 AAG33622;AAG37878;AAH14475;AAQ89194;AAQ89195;AAS01729;ABM84003;ABM87337;CAC37337;CAC37338;EAW75302;EAW75303;EAW75304;NP_071444;NP_647478;Q96CA5 Hs.256126 KIAP;ML-IAP;RNF50 LIVIN;MLIAP;OTTHUMP00000031536;OTTHUMP00000031537;OTTHUMP00000031538;RING finger protein 50;baculoviral IAP repeat-containing 7;baculoviral IAP repeat-containing protein 7;kidney inhibitor of apoptosis protein;livin inhibitor of apoptosis;livin inhibitor-of-apoptosis;melanoma inhibitor of apoptosis protein APPROVED protein-coding ENSG00000101197 HGNC:13702 05761 605737 REVIEWED 1349757 BIRC8 baculoviral IAP repeat containing 8 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN apoptotic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH capsaicin; doxorubicin; paraquat 19 19 19 50834544 50836565 - 53792854 53794875 - 53289601 53291622 - 6480464;8554872 11390657;11597143;12372615;12477932;15485395;16344560;19549727;19690564;20800603;21110914;24266799 112401 Q6PIA0;Q96P09 ABBA01068217;AC092070;AF164682;AF420440;AMYH02036424;BC039318;BC046168;BC056914;BC071665;DB052483;HC006788;HC044547;NM_033341 AAH39318;AAH71665;AAK81892;AAL30369;CBH19200;CBH30603;NP_203127;Q96P09 Hs.348263 1794998;1795000 PMC87089P1;PMC87089P2 ILP-2;ILP2;hILP2 IAP-like protein 2;baculoviral IAP repeat-containing 8;baculoviral IAP repeat-containing protein 8;inhibitor of apoptosis-like protein 2;testis-specific inhibitor of apoptosis APPROVED protein-coding ENSG00000163098 HGNC:14878 12525 VALIDATED 1323580 BIVM basic, immunoglobulin-like variable motif containing FOUND IN extracellular space; INTERACTS WITH 17beta-estradiol; copper atom; copper(0) 13 13 13 q33.1 84295880 84338368 + 103451399 103493888 + 102799049 102841538 + 6480464 11991713;12036287;12477932;14702039;19322201;19416867;19773279;8125298 54841 Q86UB2 ABBA01027069;ABBA01027070;AF147319;AF339783;AF339793;AF411385;AK000166;AK126285;AK126520;AK225229;AK290658;AK304391;AL157769;AMYH02028627;BC020663;BC039587;BC051813;BC075084;BC075085;BC112339;CH471085;GD145579;NM_001159596;NM_017693 AAH51813;AAH75084;AAH75085;AAI12340;AAM45761;BAA90986;BAF83347;BAG65226;EAX09070;NP_001153068;NP_060163;Q86UB2 Hs.288809 1737481;2111624;2135366;2136146;2179901;2218310;5014051;5037552 BIVM_4448;D13S1028;D13S1560;D8S2278;D8S2279;RH46417;RH66234;WI-5740 FLJ44301;FLJ44556;MGC133326 OTTHUMP00000018676;basic immunoglobulin-like variable motif-containing protein protein-coding ENSG00000134897 HGNC:16034 09827 VALIDATED 7243590 BIVM-ERCC5 BIVM-ERCC5 readthrough This locus represents naturally occurring read-through transcription between the neighboring BIVM (basic, immunoglobulin-like variable motif containing) and ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5) genes on chromosome 13. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Feb 2011] 13 13 q 103459496 103528351 + 102807146 102876001 + 6480464;8554872 20967262;21890473;21963094;23000965 100533467 Q59FZ7;R4GMW8 AB209312;ABBA01027069;AL157769;AMYH02028627;LM994822;NM_001204425 BAD92549;CDY80175;NP_001191354 Hs.258429 1725573;1744719;1788296;1793264;2143820;2152163 G62084;G67467;GDB:554884;PMC20331P2;RH71360;STS-X69978 ERCC5-202 protein-coding ENSG00000270181 HGNC:43690 REVIEWED 7245155 BLACAT1 bladder cancer associated transcript 1 (non-protein coding) 1 1 q32.1 205404014 205425214 - 205434886 205456086 - 14702039;16344560;23688781 101669762 ABBA01027415;AC098936;AK022594;AMYH02002547;BX640973;DA234729;DA703157;NR_103783 Hs.666219 1680471 RH93942 LINC00912;linc-UBC1 ncrna HGNC:48597 615480 VALIDATED 1344292 BLACE B-cell acute lymphoblastic leukemia expressed 7 7 q36 155149683 155160628 - 155356988 155367933 - 12690205;14667812 338436 A4D250 ABBA01032398;AC142169;AMYH02017133;AMYH02017134;AY166699;CH236954;NR_103545 A4D250;EAL23907 Hs.521326 1769359;1779882 D7S61;SHGC-153883 FLACE ncrna ENSG00000204960 HGNC:20484 608450 PREDICTED 1347383 BLCAP bladder cancer associated protein This gene encodes a tumor suppressor protein that reduces cell growth by stimulating apoptosis. The first intron of this gene contains the neuronatin gene, which is imprinted and only expressed from the paternal allele. This gene is imprinted in brain where it is differentially expressed from different promoters. Transcription from the upstream promoter occurs preferentially on the maternal allele, and transcripts are preferentially expressed from the downstream promoter on the paternal allele. Alternative promoters and alternative splicing result in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2009] 20 20 20 q11.23 32853082 32863596 - 36145819 36156333 - 37517417 37527931 - 634549;6480464 10197429 11780052;12477932;14702039;15342556;15489334;16303743;16344560;16675915;16712791;17031575;18836209;19322201;19783793;19908260;23049907 10904 A2A2K8;A2A2K9;P62952 AA780553;ABBA01006621;AF053470;AI920860;AK074498;AK124822;AL049288;AL109614;AMYH02037048;AMYH02037049;BC047692;BC071704;BP293276;CB155706;CH471077;DA198124;DA262965;DA632207;DA943717;NM_001167820;NM_001167821;NM_001167822;NM_001167823;NM_006698 AAC06370;AAH47692;AAH71704;EAW76056;NP_001161292;NP_001161293;NP_001161294;NP_001161295;NP_006689;P62952 Hs.472651 1652539;1685327;1740069;1768334;1768336;2108313;2128911;2133420;2137808;2179571;2185942;7186170 A002D19;D20S1120;D20S125E;D20S530E;D20S769;G19955;NNAT_8167;RH27937;RH79915;WI-19586;WI-21755 BC10 OTTHUMP00000030932;OTTHUMP00000178816;OTTHUMP00000178817;OTTHUMP00000178818;OTTHUMP00000178819;OTTHUMP00000178820;OTTHUMP00000178821;OTTHUMP00000178823;bladder cancer 10 kDa protein;bladder cancer related protein (10kD);bladder cancer-associated protein APPROVED protein-coding ENSG00000166619 HGNC:1055 16552 613110 REVIEWED 1606631 BLID BH3-like motif containing, cell death inducer This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011] 11 11 11 q24.1 119146742 119147603 - 121986062 121986923 - 122115354 122116215 - 6480464 12477932;15069058;18940476;19779542;20400521;20544842;20838585;21031016;21846966;23928696;24532431 414899 Q8IZY5 ABBA01031297;AF303179;AMYH02025697;AP001924;BC130361;BC130363;NM_001001786 AAI30362;AAI30364;AAN31127;ADR83464;NP_001001786;Q8IZY5 Hs.686109 BRCC2;MGC163233;MGC163235 BH3-like motif-containing cell death inducer;OTTHUMP00000231802;breast cancer cell 2;breast cancer cell protein 2 APPROVED protein-coding ENSG00000259571 HGNC:33495 16392 608853 REVIEWED 1318874 BLK BLK proto-oncogene, Src family tyrosine kinase This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010] 8 8 8 p23-p22 10480897 10551454 + 11351521 11422108 + 11494012 11564599 + 1580863;2316189;1642307;6480464;6484113;7240710;8554872;8699517 17562528;19180478 10449731;11896452;12406557;12477932;14970218;16273093;18067320;18204098;18854154;19165918;19225526;19351960;19503088;19644876;19667185;19740902;19796918;19838193;19953087;20130895;20131239;20131273;20156505;20453440;20881011;20962850;21068098;21152986;21408207;21452313;21978998;22003931;22313735;22446961;22446962;22610502;22678060;22696686;22740142;22748822;22797726;22939624;23053960;23224494;23273568;23555801;23646104;23740937;23899688;24023612;24024966;2404338;24085759;24390342;24702955;7592787;7592958;7822795;7845672;8083187;8395016;8621719;8636124;8756631;876631;9177269;9525867 640 E9PJX5;P51451;Q05D26 ABBA01026878;ABBA01026879;AC022239;AF131216;AK313751;AL832875;AMYH02017439;BC004473;BC007371;BC018703;BC032413;BC038555;BQ057058;CH471157;KF458689;NG_023543;NM_001715;S76617;XM_005272390;XM_006716250;XM_006716251;XM_006716252;Z33998 AAB33265;AAH07371;AAH18703;AAH32413;BAG36491;CAA83965;EAW65617;EAW65618;NP_001706;P51451;XP_005272447;XP_006716313;XP_006716314;XP_006716315 Hs.146591 1338349;1707944;1722827;5117316 D8S1695;G60355;GDB:462442;SHGC-82225 MGC10442;MODY11 B lymphoid tyrosine kinase;BLK nonreceptor tyrosine kinase;OTTHUMP00000115909;OTTHUMP00000229490;b lymphocyte kinase;p55-Blk;tyrosine-protein kinase Blk APPROVED protein-coding ENSG00000136573 HGNC:1057 01866 191305;613375 REVIEWED 1318795 BLM Bloom syndrome, RecQ helicase-like The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 67669191 67767281 + 91260579 91358686 + 90717327 90815462 + 1580056;1580057;1580863;1599420;6480464;6907045;7240710;8554872;8699517;8662366 10779560;10825162;20690856;9388480 10359700;10728666;10734115;10783165;10823897;10851073;10862105;10871376;11278509;11309417;11325959;11399766;11406610;11433031;11470874;11472631;11500040;11532193;11691925;11716541;11741924;11781842;11790298;11876000;11877377;11916980;11919194;11950880;11960380;12019152;12034743;12080066;12181313;12242432;12433984;12444098;12477932;12606585;12702560;12724401;12818200;12826610;12973351;12974384;12975363;14517203;14576316;14685245;14688284;14729972;15064730;15143166;1518822;15229185;15231747;15257300;15289897;15302935;15342556;15364958;15489334;15509577;15539948;15579905;15604258;15616572;15635413;15726604;15750625;15775963;15805243;15806145;15829507;15845538;15959913;15965237;15990871;16030011;16116422;16199871;16326861;16344560;16412221;16524884;16537486;16565220;16595695;16620772;16766518;16864798;16876111;16880735;16964243;17115688;17407155;17457718;17500065;17591918;17599064;17603497;17634426;17728255;17855454;17878217;17943968;17961633;17984114;18003860;18029348;18054789;18264947;18270339;18278455;18390547;18401830;18448429;18471088;18562274;18676680;18682526;18708356;18971343;18974064;18978339;19015241;19109166;19165145;19170196;19205873;19237606;19329795;19432957;19442250;19465921;19471022;19500012;19542097;19573080;19578796;19625176;19632996;19661064;19671661;19692168;19714462;19734539;19773279;19913121;19917125;19935873;19945966;19956565;20064461;20154148;20211839;20215422;20237496;20301471;20301572;20347428;20347429;20360068;20445207;20447876;20628086;20639533;20719863;20739603;20800603;20813000;21111748;21113733;21123383;21129251;21139048;21145461;21240188;21300576;21325134;21567087;21693764;21712816;21736299;21743438;21815139;22106380;22253018;22272300;22356911;22544709;22563370;22586326;22705371;22989712;23028338;23084401;23129629;23225144;23253856;23261817;23268311;23322570;23404160;23509288;23572515;23708797;24095737;24096176;24108125;24239288;24332808;24816145;24958861;7585968;8022833;9285778;9388193;9671747 641 B7ZKN7;H0YLV8;H0YNU5;P54132 ABBA01053065;ABBA01053066;ABBA01053067;ABBA01053068;AC021422;AC124248;AK295194;AK303159;AK314262;AMYH02031048;AMYH02031049;AMYH02031050;AMYH02031051;AMYH02031052;AY886902;BC034480;BC062697;BC093622;BC101567;BC107423;BC115028;BC115029;BC115030;BC115031;BC115032;BC143280;BC143288;BP363946;CD707743;CH471101;DA122319;DB520927;KF511223;NG_007272;NM_000057;NM_001287246;NM_001287247;NM_001287248;U39817;XM_006720632 AAA87850;AAH93622;AAI01568;AAI07424;AAI15031;AAI15033;AAI43281;AAW62255;BAG36927;BAH12008;BAH13907;EAX02107;EAX02108;NP_000048;NP_001274175;NP_001274176;NP_001274177;P54132;XP_006720695 Hs.725208 1671023;1740563;1740605;1740607;2122964;2123025;2161305;2169575 A008V47;D15S1129;D15S1144;D15S1145;D15S834;RH18053;STS-T99721;WI-16966 BS;MGC126616;MGC131618;MGC131620;RECQ2;RECQL2;RECQL3 Bloom syndrome protein;DNA helicase, RecQ-like type 2;OTTHUMP00000194750;recQ protein-like 3 APPROVED protein-coding ENSG00000197299 HGNC:1058 05211 210900;604610 REVIEWED 1312244 BLMH bleomycin hydrolase Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 25436850 25480700 - 28575213 28619184 - 30248195 30292166 - 1580058;1580059;1580863;6480464;7240710;8554872 14732230;16105758 10335922;10353821;10404591;10686410;10973933;11099722;11350084;11436125;12082022;12477932;12604387;15489334;15900213;16169070;16189514;17854420;18029348;18082847;18398146;19056867;19615732;20198498;20301340;20360068;21139048;21145461;21163940;21190945;21310951;21693764;21890473;21900206;21906983;21943823;21963094;22037625;22505724;22863883;23000965;23708668;24657165;24816145;8125298;8620487;8639621;9331073;9407121;9485374;9500538;9546396;9855622 642 J3KS79;J3KSD8;K7EMJ3;K7ENH5;K7ES02;K7ESE8;Q13867 ABBA01015001;ABBA01015002;AC087644;AC104984;AF091082;AI283058;AK223403;AK301948;AK312896;AMYH02033271;BC003616;BG471412;BT007018;CH471159;DC346179;NG_011440;NM_000386;X92106 AAC72951;AAH03616;AAP35664;BAD97123;BAG35743;BAG63365;CAA63078;EAW51224;NP_000377;Q13867 Hs.371914 1660545;1687049;1749879;1783462;2127178;2219032 BLMH__4450;RH45325;RH91724;SHGC-111440;SHGC-111606;SHGC-24274 BH;BMH BLM hydrolase APPROVED protein-coding ENSG00000108578 HGNC:1059 03870 104300;602403 REVIEWED 1347273 BLNK B-cell linker This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] 10 10 10 q23.2-q23.33 91692656 91772534 - 97951455 98031333 - 96191699 96271576 - 1600518;6480464;6484113;6907045;7240710;8699517;8554872 10583958 10498607;10556826;10684856;10820378;10903736;10981967;11071869;11274146;11356834;11449366;11487585;11489945;11514608;11909947;12093870;12176364;12456653;12477932;12496419;12514734;12761551;12773374;14702039;15087455;15270728;15489334;15588985;15744341;16273093;16341674;16344560;16356554;16385451;16568084;16636677;16912232;16969585;17681949;18022864;19018766;19218240;19372136;19641626;20237496;20379614;21048031;21482705;21822214;22262777;22689681;24166973;8125298;9341187;9697839;9705962 29760 F5GXS1;K7EKR2;Q2MD47;Q2MD54;Q2MD59;Q8WV28 ABBA01021830;ABBA01021831;AC021037;AF068180;AF068181;AF180756;AI307343;AK027779;AK225546;AL391057;AM180327;AM180328;AM180329;AM180330;AM180331;AM180332;AM180333;AM180334;AM180335;AM180336;AM180337;AM180338;AM180339;AM180340;AM180341;AM180342;AM180343;AM180344;AM180345;AM180346;AMYH02023584;AMYH02023585;AMYH02023586;BC018906;BC110298;BF975580;BM820310;BU597768;CH471066;DA045252;KF455281;KF573679;NG_007575;NM_001114094;NM_001258440;NM_001258441;NM_001258442;NM_013314;NR_047680;NR_047681;NR_047682;NR_047683 AAC39936;AAC39937;AAF20382;AAF20383;AAH18906;BAG51377;CAJ55321;CAJ55322;CAJ55323;CAJ55324;CAJ55325;CAJ55326;CAJ55327;CAJ55328;CAJ55329;CAJ55330;CAJ55331;CAJ55332;CAJ55333;CAJ55334;CAJ55335;CAJ55336;CAJ55337;CAJ55338;CAJ55339;CAJ55340;EAW49980;EAW49981;NP_001107566;NP_001245369;NP_001245370;NP_001245371;NP_037446;Q8WV28 Hs.665244 1656818;1699806;1765049 D10S1562;RH103510;SHGC-148592 AGM4;BASH;BLNK-S;LY57;MGC111051;SLP-65;SLP65;bca B cell adaptor containing SH2 domain;B cell linker protein;B-cell activation;B-cell adapter containing a SH2 domain protein;B-cell adapter containing a Src homology 2 domain protein;B-cell linker protein;OTTHUMP00000020167;OTTHUMP00000020168;Src homology 2 domain-containing leukocyte protein of 65 kDa;Src homology [SH2] domain-containing leukocyte protein of 65 kD;cytoplasmic adapter protein APPROVED protein-coding ENSG00000095585 HGNC:14211 05153 604515;613502 REVIEWED 1316833 BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1 BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008] 12 12 12 q13-q14 55762291 55765956 + 56109818 56113491 + 55716034 55719707 + 1580863;6480464 10611234;10747963;11031247;11252894;12477932;12639951;14667819;14702039;15102850;15146197;16169070;16344560;17618940;19246570;20877624;21832049;21890473;21906983;22309213;22423091;22505724;22554196;23676666;24816145;8646881;8770567;9674425 2647 F8VP73;F8W606;G8JLQ3;H0YHA4;P78537 ABBA01008384;AC009779;AI673441;AI816035;AK307069;AMYH02026548;BC066340;BC130640;BC132795;BQ899204;BU601406;CH471054;CN263524;D64007;DA243440;DA864590;NG_008606;NM_001487;NR_037655;NR_037656;NR_037657;S82447 AAB37682;AAI30641;AAI32796;BAA10887;EAW96824;NP_001478;P78537 Hs.600940;Hs.94672 BLOS1;FLJ39337;FLJ97089;GCN5L1;MGC87455;RT14 BLOC subunit 1;BLOC-1 subunit 1;GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1;GCN5 general control of amino-acid synthesis 5-like 1;GCN5-like protein 1;MICoA;MTA1-interacting coactivator;OTTHUMP00000242529;OTTHUMP00000242530;OTTHUMP00000242994;biogenesis of lysosome-related organelles complex 1 subunit 1;biogenesis of lysosome-related organelles complex-1, subunit 1 APPROVED protein-coding ENSG00000135441 HGNC:4200 03263 601444 VALIDATED 1315231 BLOC1S2 biogenesis of lysosomal organelles complex-1, subunit 2 This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 10 10 10 q24.31 95771676 95784317 - 102033035 102046469 - 100273278 100286712 - 2302154;6480464 16176350 11483580;12191018;12477932;12576321;12923531;14702039;15102850;15146197;15164054;15381421;15489334;16344560;16712791;18188704;18329849;19083121;19615732;20308062;21139048;21697133;21832049;21900206;23974797;24250222;8889548 282991 F1T0F0;J3QRU7;Q6QNY1 AB593084;ABBA01063228;ABBA01063229;AK054697;AK298969;AL138921;AL139819;AMYH02023651;AY278457;AY531265;BC020494;BF666010;BG545838;BG679165;BI753469;BU608851;BU740315;BX112121;CB118026;CB218039;CH471066;CN340962;DB296446;DB456773;HY107885;HY165508;NM_001001342;NM_001282436;NM_001282437;NM_001282438;NM_001282439;NM_173809 AAH20494;AAQ19606;AAT00461;BAG61064;BAJ84024;EAW49835;EAW49836;EAW49837;NP_001001342;NP_001269365;NP_001269366;NP_001269367;NP_001269368;NP_776170;Q6QNY1 Hs.34906;Hs.715064 2167444;2175233;2184379;2219034;5015619;5015961;5024039;5037552 BLOC1S2__4451;D11S3114;D15S1477;D16S325;D8S2279;RH45831;RH47426;SHGC-34558 BLOS2;CEAP;CEAP11;FLJ30135;MGC10120;RP11-316M21.4 11 kDa centrosome associated protein;BLOC-1 subunit 2;OTTHUMP00000020281;OTTHUMP00000020282;biogenesis of lysosome-related organelles complex 1 subunit 2;biogenesis of lysosome-related organelles complex-1, subunit 2;centrosomal 10 kDa protein;centrosome protein oncogene;centrosome-associated protein APPROVED protein-coding ENSG00000196072 HGNC:20984 12526 609768 VALIDATED 1321173 BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 42486265 42489320 + 45682003 45685058 + 45178745 45181800 + 6480464;8699517;7240710;8554872 11031247;11252894;12191018;12477932;12576321;12923531;15102850;16385460;17081983;17182842;19197348;20301464;20460622 388552 K7EN58;Q6QNY0 ABBA01040912;AC005757;AC005779;AK130151;AK130186;AK296695;AMYH02036192;AY531266;BC151151;BC151152;BU616355;DC422050;DN996082;NG_008372;NG_033044;NM_212550 AAI51152;AAI51153;AAT00462;BAC85300;BAG59289;NP_997715;Q6QNY0 Hs.103902 1851787;5015961 D15S1477;RH48388 BLOS3;FLJ26641;FLJ26676;HPS8;RP BLOC-1 subunit 3;biogenesis of lysosome-related organelles complex 1 subunit 3;biogenesis of lysosome-related organelles complex-1, subunit 3;reduced pigmentation, mouse, homolog of APPROVED protein-coding ENSG00000189114 HGNC:20914 12527 609762;614077 REVIEWED 1602324 BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 6619850 6621391 + 6717842 6719387 + 6716115 6717660 + 6480464 11031247;11110696;11252894;12191018;12477932;12576321;12923531;14702039;15102850;15489334;21900206;22203954;24250222 55330 Q9NUP1 ABBA01012727;AC093323;AF085849;AI679712;AK002092;AMYH02008671;BC001818;BC009890;BC067815;CH471131;NM_018366 AAH67815;BAA92080;EAW82382;NP_060836;Q9NUP1 Hs.7570 1648236;1652248 SHGC-32908;SHGC-67821 BCAS4L;BLOS4;CNO;FLJ11230 BLOC-1 subunit 4;OTTHUMP00000155165;biogenesis of lysosome-related organelles complex 1 subunit 4;cappuccino homolog APPROVED protein-coding ENSG00000186222 HGNC:24206 12035 605695 REVIEWED 1315693 BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010] 6 6 6 p25.1-p24.3 9243487 9293945 - 8013800 8064647 - 8013567 8064414 - 6480464;8554872 11912185;12019270;12191018;12477932;12576321;12923531;14574404;15102850;15489334;16341674;16344560;17182842;17618940;19615732;20562859;21044367;21145461;21832049;24250222;24816145 63915 G5E931;Q8TDH9 AA653396;ABBA01022052;ABBA01022053;AF426434;AK025442;AK301142;AK311385;AL023694;AL096800;AMYH02013065;AMYH02013066;BC032438;BC119644;BC119645;BM829259;BX647336;CH471087;CR749569;DA635930;NM_001199322;NM_001199323;NM_201280 AAH32438;AAI19645;AAI19646;AAL99385;BAG62734;CAH18364;EAW55225;NP_001186251;NP_001186252;NP_958437;Q8TDH9 Hs.719272 1339010;1661550;1685445 D6S1674;RH48250;RH94181 BLOS5;DKFZp686E2287;FLJ18427;MU BLOC-1 subunit 5;MUTED;OTTHUMP00000016007;OTTHUMP00000212220;biogenesis of lysosome-related organelles complex 1 subunit 5;muted homolog APPROVED protein-coding ENSG00000188428 HGNC:18561 06289 607289 REVIEWED 5133076 BLOC1S5-TXNDC5 BLOC1S5-TXNDC5 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring MUTED (muted homolog) and TXNDC5 (thioredoxin domain containing 5) genes on chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 6 6 p 7881483 8064647 - 7881250 8064414 - 6480464;8554872 11181995;12477932;20967262;23870195 100526836 H3BN57 ABBA01022048;ABBA01022049;ABBA01022050;ABBA01022051;ABBA01022052;ABBA01022053;AL023694;AL096800;AL133541;AMYH02013063;AMYH02013064;AMYH02013065;AMYH02013066;BC052310;CH471087;NR_037616 AAH52310;EAW55223 Hs.150837 1649676;1654410 A002L04;WI-13193 FLJ21789;MGC59718;MUTED-TXNDC5 APPROVED ncrna ENSG00000259040 HGNC:42001 VALIDATED 1320975 BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 15 15 15 q21.1 22770564 22793057 + 45879417 45901909 + 45587219 45609711 + 1580863;6480464;8699517;7240710;8554872 10610180;11031247;11252894;11936273;12019270;12191018;12477932;12576321;12923531;14702039;15102850;15489334;16169070;16189514;17182842;19322201;19546860;20301464;20936779;21832049;21988832;23750231;24722188;2968981;8608138;8619474;8986625;9110174 26258 B3KY40;H3BML5;H3BMT8;H3BN13;H3BN73;H3BNE3;H3BPR6;H3BR42;H3BRA4;H3BST1;H3BU57;Q9UL45 ABBA01039176;AC090527;AF080470;AF131859;AK057545;AK128626;AK315581;AMYH02030359;BC004819;BC026289;CH471082;NG_028194;NM_012388 AAF08343;AAH04819;ADZ15783;BAG37954;BAG54702;EAW77330;NP_036520;Q9UL45 Hs.7037 1655172;1771238;1798000;1855975;2177342;5022578;5037552 D15S1094;D1S1423;D8S2279;HUMHM01F10;PLD3_2311;RH11270;STS-N35229 BLOS6;HPS9;PA;PLDN BLOC-1 subunit 6;OTTHUMP00000162199;PALLID;biogenesis of lysosomal organelles complex-1, subunit 5, pallidin;biogenesis of lysosome-related organelles complex 1 subunit 6;pallid protein homolog;pallidin;pallidin homolog;syntaxin 13 binding protein 1;syntaxin 13-interacting protein pallid APPROVED protein-coding ENSG00000104164 HGNC:8549 16055 604310;614171 REVIEWED 733010 BLVRA biliverdin reductase A The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011] 7 7 7 p13 43788116 43836787 + 43798272 43846941 + 43758673 43807342 + 1580863;6480464;6907045;8699517;7240710;8554872 10858451;12456881;12477932;12853948;12909459;14988408;15489334;15741166;17227757;17402939;18463290;19056867;19238116;19243019;19471022;19580635;19690164;20177069;20410444;20430037;20485444;20526373;21099244;21110914;21139048;21241799;21278388;21483094;21721974;21890473;21906983;22776971;23000965;23536765;24060811;24113378;24222129;25027693;7929092;8424666;8631357;8889548;8950184 644 C9J1E1;P53004 ABBA01058193;ABBA01058194;ABBA01058195;AC004939;AC004985;AC005189;AK291862;AMYH02015611;AMYH02015612;AY616754;BC005902;BC008456;BM710258;CA418616;CH236951;CH471073;NG_031876;NM_000712;NM_001253823;U34877;X93086 AAC35588;AAD05025;AAH05902;AAH08456;AAP21879;AAT11126;BAF84551;CAA63635;EAW94171;NP_000703;NP_001240752;P53004 Hs.488143 1653693;1653695;1660596;1687840;2130614;2130616;2142584;2142968;2166200;5124986 A006I27;G20849;GDB:444063;RH47289;RH69251;RH79646;SGC34648;SGC34667;STS-D51504;STS-U34877 BLVR;BVR;BVR A;BVRA OTTHUMP00000159196;OTTHUMP00000207534;biliverdin-IX alpha-reductase APPROVED protein-coding ENSG00000106605 HGNC:1062 11229 109750;614156 REVIEWED 1314490 BLVRB biliverdin reductase B (flavin reductase (NADPH)) The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009] 19 19 19 q13.1-q13.2 37753251 37771296 - 40953691 40971725 - 40447784 40465818 - 1580863;6480464;6907045 11224564;12477932;12626517;1286669;12909459;15489334;18029348;18241201;19027726;19056867;21890473;21906983;21988832;22939629;23000965;24654937;7656592;7929092;8117274;8280170;8313871;8687377;8799475 645 M0QZL1;M0R192;P30043;V9HWI1 ABBA01040760;ABBA01040761;ABBA01040762;ABBA01040763;ABBA01040764;AC010271;AC020929;AK312137;AMYH02036115;AY340485;BC109371;BG340491;BU528444;CH471126;D26308;D32143;EU794593;NM_000713 AAI09372;AAP88933;ACJ13647;BAA05370;BAA06874;BAG35073;EAW56969;EAW56970;EAW56971;EAW56972;NP_000704;P30043 Hs.515785 1649879;2118192;2122176;2140288 A009D36;RH16416;RH46045;SHGC-33106 BVR-B;BVRB;FLR;FR;GHBP;HEL-S-10;MGC117413;SDR43U1 NADPH-dependent diaphorase;NADPH-flavin reductase;biliverdin-IX beta-reductase;epididymis secretory protein Li 10;flavin reductase;flavin reductase (NADPH);green heme-binding protein;short chain dehydrogenase/reductase family 43U, member 1 APPROVED protein-coding ENSG00000090013 HGNC:1063 02967 600941 VALIDATED 1349052 BLZF1 basic leucine zipper nuclear factor 1 ENCODES a protein that exhibits enzyme binding; ubiquitin protein ligase binding; INVOLVED IN Golgi organization; Golgi to plasma membrane protein transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; arsenous acid; copper atom 1 1 1 q24 142446973 142475560 + 169337122 169365782 + 169367956 169396544 + 6480464;8554872 10602419;11056056;11739401;11739402;11739746;12477932;14702039;15489334;16710414;18029348;19064610;19536175;20211142;20398657;21478859;21906983;21963094;21988832;23455924;24722188;8125298;9129147;9442054;9823948 8548 Q5T532;Q5T534;Q9H2G9 ABBA01027952;ABBA01027953;AF272386;AF272387;AF272388;AF273875;AF288161;AF288162;AK055883;AK223533;AK291725;AK307151;AL021068;AL356852;AMYH02002112;BC020716;BI458959;BI460514;CH471067;NM_003666;U79751;XM_005245561 AAB63110;AAG37821;AAG37822;AAG37835;AAH20716;ABM82306;ABM85483;BAD97253;BAF84414;EAW90837;EAW90838;EAW90839;NP_003657;Q9H2G9;XP_005245618 Hs.130746 1646645;1656813;1677094;1700310;1770099;2109087;2162257;5022651 A007J25;BLZF1_8827;D11S2921;RH103775;RH16672;RH65485;RH92136;SHGC-32124 JEM-1;JEM-1s;JEM1;MGC22497 Golgin-45;JEM-1short protein;OTTHUMP00000033500;OTTHUMP00000033501;OTTHUMP00000033504;cytoplasmic protein;p45 basic leucine-zipper nuclear factor protein-coding ENSG00000117475 HGNC:1065 16367 608692 VALIDATED 1353512 BLZF2P basic leucine zipper nuclear factor 2 pseudogene 14 14 14 q24.1 49394258 49397701 - 69333375 69336827 - 68866658 68870110 - 317729 ABBA01023683;AL132986;AMYH02029427;NG_002462 pseudo HGNC:20049 INFERRED 1342866 BMF Bcl2 modifying factor The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 15 15 15 q14 17145999 17167002 - 40380091 40401088 - 40087890 40108887 - 737633;2314029;6480464 12477932;19641503 11214971;11546872;12591950;14561217;14574334;14702039;15342556;15489334;15694340;15721256;16260615;16484005;16697956;16712791;16830229;17207965;17360431;17557568;18354037;19267218;19300516;19641506;19671867;20706276;20819778;20861305;21533175;21673109;21988832;22327514;23192964;23824909;24292274 90427 H0YK50;H0YNT3;Q96LC9 ABBA01038460;AC021755;AI281003;AK024472;AMYH02030232;AY029254;AY222040;AY222041;BC060783;BC069328;BC069505;BC070043;BC104983;BC104985;BG744712;BP280415;BQ064116;CB108463;CH471125;HY090235;N41452;NM_001003940;NM_001003942;NM_001003943;NM_033503;XM_005254757;XM_005254760;XM_005254761;XM_005254762;XM_006720729;XM_006720730;XM_006720731;XM_006720732;XM_006720733;XM_006720734;XM_006720735 AAH60783;AAH69328;AAH69505;AAH70043;AAI04984;AAI04986;AAK38748;AAP22965;AAP22966;ADQ32892;BAB15762;EAW92393;NP_001003940;NP_001003942;NP_001003943;NP_277038;Q96LC9;XP_005254814;XP_005254817;XP_005254818;XP_005254819;XP_006720792;XP_006720793;XP_006720794;XP_006720795;XP_006720796;XP_006720797;XP_006720798 Hs.591104 1339484;1732131;2118588;2187635 D15S1280;D15S129;D15S214;UniSTS:71295 FLJ00065 OTTHUMP00000160316;bcl-2-modifying factor APPROVED protein-coding ENSG00000104081 HGNC:24132 05881 606266 REVIEWED 1348038 BMI1 BMI1 proto-oncogene, polycomb ring finger ENCODES a protein that exhibits RING-like zinc finger domain binding; zinc ion binding; INVOLVED IN hemopoiesis; negative regulation of transcription from RNA polymerase II promoter; positive regulation of fibroblast proliferation; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Carcinoma, Pancreatic Ductal; Colorectal Neoplasms; Leukemia, Myeloid, Acute; FOUND IN nucleus; PcG protein complex; PRC1 complex; INTERACTS WITH (S)-nicotine; 17beta-estradiol; 5-aza-2'-deoxycytidine 10 10 10 p11.23 22297715 22308139 + 22610139 22620414 + 22321210 22331485 + 1580058;1580059;6480464;9479058;9479060;9491843;8554872 14732230;16105758;19585519;23473600;25065329 10445843;10574711;10737800;10825164;11171983;12167161;12167701;12183370;12183433;12408802;12477932;12482919;12482990;12589020;12714971;12829790;14536079;15009096;15029199;15334543;15386022;15489334;15563468;15897469;15931389;16107895;16169070;16314526;16344560;16359901;16501599;16537449;16710298;16714294;16751658;16874656;16936260;16963837;16982619;17081983;17114435;17134822;17145810;17145814;17148583;17148591;17151361;17157253;17161394;17179983;17233832;17298744;17332741;17344414;17360938;17420273;17452456;17454639;17545584;17557835;17597110;17625597;17666329;17711569;17917742;17974970;17989714;18029348;18094618;18156489;18228133;18246051;18264721;18269588;18346113;18347933;18427816;18438345;18439910;18450386;18453536;18475299;18565849;18591938;18592462;18668134;18701473;18781299;18817867;18829528;19012049;19021148;19080002;19080003;19099625;19228380;19233177;19269851;19322201;19337376;19379548;19386347;19389366;19451220;19452584;19462008;19543317;19549727;19556423;19605626;19636380;19639171;19695678;19778799;19806792;19884659;19903340;19903841;19907431;19934271;19940551;19956605;19957112;20015867;20024662;20035051;20085590;20127006;20145620;20170541;20190806;20211142;20308890;20377880;20385206;20426791;20428793;20530672;20551323;20564407;20568112;20569464;20574517;20591222;20592341;20601937;20661663;20668194;20717685;20724541;20800574;20809956;20818389;20818602;20921134;21039844;21047978;21059209;21113618;21125401;21152871;21162745;21164364;21170084;21179169;21252986;21259057;21276135;21276221;21282530;21307872;21309753;21370603;21373837;21383063;21428211;21430439;21496667;21572997;21638011;21656027;21675959;21676867;21678481;21685941;21725369;21732356;21735131;21755556;21772249;21851624;21856782;21865393;21866458;21883379;21890473;21919891;21960247;21963094;21988832;21999765;22009787;22040961;22096526;22120066;22120721;22132147;22170051;22209830;22252887;22265735;22293918;22325352;22366984;22384090;22420951;22493164;22509111;22664532;22725270;22766604;22777769;22825250;22842564;22863087;22872929;22897849;22898137;22907436;22912356;22967049;22982443;22994774;23023333;23046527;23057360;23078618;23092893;23138990;23204235;23207902;23239878;23242307;23255074;23308129;23383216;23437065;23468063;23523425;23525303;23559850;23592496;23601184;23667531;23671559;23686310;23700898;23708658;23712029;23727134;23744494;23807724;23820733;23864317;23873108;23873701;23950210;23984324;23990442;24039897;24122997;24139839;24145240;24252251;24292392;24300467;24312366;24317363;24337040;24379598;24457600;24614341;24719948;24800958;24816145;24889242;7715727;8268912;8390036;9009205;9121482;9199346;9367786;9858531 648 P35226;Q5T8Z2;Q5T8Z4;Q5T8Z5;Q5T8Z6 ABBA01034480;AI274830;AL158211;AMYH02022433;AMYH02022434;AMYH02022435;BC011652;BE008203;BT019450;CH471072;CR456911;DB161566;DB225488;L13689;NM_005180 AAA19873;AAH11652;AAV38257;CAG33192;EAW86148;EAW86150;EAW86151;EAW86154;NP_005171;P35226 Hs.380403;Hs.731287 FLVI2/BMI1;MGC12685;PCGF4;RNF51 B lymphoma Mo-MLV insertion region 1 homolog;BMI1 polycomb ring finger oncogene;BMI1 polycomb ring finger proto-oncogene;OTTHUMP00000019290;OTTHUMP00000019291;OTTHUMP00000019293;OTTHUMP00000019294;flvi-2/bmi-1;murine leukemia viral (bmi-1) oncogene homolog;oncogene BMI-1;polycomb complex protein BMI-1;polycomb group RING finger protein 4;polycomb group protein Bmi1;polycomb group ring finger 4;ring finger protein 51 APPROVED protein-coding ENSG00000168283 HGNC:1066 01277 164831 VALIDATED 1352048 BMIQ1 body mass index quantitative trait 1 11713718 170815 1338834 D7S1804 HGNC:23827 606641 1348709 BMIQ2 body mass index quantitative trait 2 11713718 192149 1857361 D13S257 HGNC:23828 606643 1349561 BMIQ3 body mass index quantitative trait 3 11713718 337895 1298296;1331554 D6S1009;D6S305 HGNC:23829 607446 1344681 BMIQ4 body mass index quantitative trait 4 ASSOCIATED WITH BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (inferred) 7240710 11713718 338026 1298235;1298267 D11S1998;D11S4464 HGNC:23830 607447 730933 BMP15 bone morphogenetic protein 15 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The transforming growth factor-beta superfamily includes large families of growth and differentiation factors. It is thought that this protein may be involved in oocyte maturation and follicular development as a homodimer or by forming heterodimers with a related protein, Gdf9. Defects in this gene are the cause of ovarian dysgenesis 2.[provided by RefSeq, Sep 2009] X X X p11.2 54697190 54703096 + 50653735 50659641 + 50910735 50916641 + 1599496;734646;1580863;6480464;7240710;8554872;8699517 10888873;16508750 10443672;10998422;11741284;12419820;12446716;12477932;14970198;15136966;15489334;15772651;15809424;16464940;16645022;17027369;17464588;17826728;17905236;18006624;18227435;18308851;18614612;18980767;19263482;19346101;19376510;19438907;19553676;19635612;19651638;19933466;20067794;20236105;20364024;20547206;20734064;20937357;21226076;21496799;21565556;21632818;21669410;22014425;22294741;22356426;22382392;22825968;23173577;23782946;24140593;9849956 9210 O95972 ABBA01060056;ABBA01060057;AF082349;AF082350;AJ132405;AL359914;AMYH02039366;BC069155;BC117264;BC117266;CH471180;NG_012894;NM_005448 AAC99768;AAH69155;AAI17265;AAI17267;ADR82968;CAB43531;EAW89914;NP_005439;O95972 Hs.532692 1795436;5016029 BMP15;BMP15_481 BMP-15;GDF-9B;GDF9B;ODG2;POF4 OTTHUMP00000023297;growth/differentiation factor 9B APPROVED protein-coding ENSG00000130385 HGNC:1068 02216 300247;300510 REVIEWED 1604611 BMP2K BMP2 inducible kinase This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q21.21 76993004 77128983 + 79697532 79837519 + 78776378 78916365 + 6480464;8554872 11500515;11693963;12477932;12665801;14702039;15254968;15489334;16751776;16753015;17081983;18029348;18976975;19336002;19380743;19453261;19738201;19927351;20811636;9853615 55589 H0Y9P1;K4DI97;Q9NSY1 AB015331;ABBA01063387;ABBA01063388;ABBA01063389;AC093841;AC098818;AF527532;AK021620;AK021725;AK075278;AK292147;AL137275;AL137661;AMYH02009545;BC036021;CH471057;NM_017593;NM_198892;XM_005263117 AAH36021;AAM88867;AAY40926;ABM81920;BAA34790;BAC11515;BAF84836;CAB70673;CAB70863;EAX05829;EAX05830;EAX05831;EAX05832;EAX05833;EAX05834;EAX05835;NP_060063;NP_942595;Q9NSY1;XP_005263174 Hs.146551 1337651;1340838;1646234;1658860;1693710;1788634;1797324;1852600;2171790;5014051;5037552;5095905;5109281 BMP2K_2550;D1S1425;D4S2947;D4S3003;D8S2278;D8S2279;RH18145;RH66110;SHGC-50474;SHGC-58631;SHGC-59236;SHGC-67617;STS-N20237 BIKE;DKFZp434K0614;DKFZp434P0116;HRIHFB2017 BMP-2-inducible protein kinase;OTTHUMP00000219234;OTTHUMP00000219235 APPROVED protein-coding ENSG00000138756 HGNC:18041 09828 REVIEWED 733110 BMP2 bone morphogenetic protein 2 The protein encoded by this gene belongs to the transforming growth factor-beta (TGFB) superfamily. The encoded protein acts as a disulfide-linked homodimer and induces bone and cartilage formation. [provided by RefSeq, Jul 2008] 20 20 20 p12 6819903 6832070 + 6748745 6760910 + 6768098 6780263 + 1580077;1625347;734647;1625350;1580863;2289030;1643592;2289037;2299981;6480464;6484113;6907045;7240710;8698669;8699517;8554872;9068404 15042598;15334463;16361357;16519147;16651391;17002564;17656261;18021008;2117991;23770801 10074410;10085302;10196167;10220513;10657699;10692589;10704850;10712517;10880444;10881198;11180925;11263668;11456401;11497252;11502704;11642720;11718007;11741887;11748585;11780052;11792561;11811554;11837817;11854297;11953135;11968014;12002771;12052447;12082094;12126644;12168799;12210753;12477932;12489168;12527559;12531697;12535648;12620973;12740218;12819188;12854828;12856332;12872164;12897139;12919699;12925611;12933820;13678785;14499589;14558086;14587031;14623234;14660436;14691541;14699493;1487246;15020244;15037653;15039429;15064755;15102076;15110716;15150273;15240857;15254224;15322112;15358784;15592496;15621726;15641068;15647827;15647840;15671031;15851600;15857508;15861517;16000303;16049014;16126463;16150699;16157126;16194878;16243309;16247476;16261446;16326713;16391828;16432645;16433617;16442268;16453284;16598384;16604289;16613856;16615932;16621789;16637042;16672363;16719933;16753015;16754660;16771708;16815889;16835229;16893455;17003113;17029022;17120779;17138967;17168321;17202865;17244894;17255107;17262821;17356069;17401695;17416365;17437303;17472960;17504062;17518682;17519894;17530715;17549388;17553463;17577985;17608624;17617489;17681894;17711857;17726567;17824831;17847004;17919499;17960657;17992660;17997109;18029192;18059017;18059158;18156628;18160010;18160401;18179800;18184661;18287331;18311072;18326817;18382765;18389292;18391951;18400943;18404105;18426824;18434375;18436533;18465455;18471510;18490653;18510873;18512729;18545679;18546152;18586671;18600473;18703506;18720162;18720410;18773965;18812404;18818419;18937504;18950289;19018606;19023570;19038372;19058174;19079261;19080362;19098993;19112539;19113914;19123988;19139264;19140318;19231972;19238726;19240369;19266077;19281856;19301257;19324447;19324883;19327734;19341710;19375587;19438813;19453261;19473100;19492344;19582526;19584291;19609629;19639199;19653054;19655815;19664780;19670606;19693635;19699244;19713532;19736317;19754224;19762079;19782107;19797419;19799789;19800879;19811499;19835871;19857615;19879168;19909214;19913121;19918795;19924575;19953937;20014079;20039267;20041271;2004778;20060812;20065295;20232298;20237276;20301613;20302941;20304956;20306291;20346918;20348041;20424473;20432245;20432444;20505824;20506112;20530805;20537331;20546278;20546612;20548225;20555025;20565259;20567515;20576608;20587070;20587610;20628086;20634891;20637325;20651281;20659471;20668165;20670444;20672350;20677014;20679527;20682677;20684029;20721706;20730440;20734064;20816195;20818491;20825377;20838369;20848249;20874259;20881960;20927405;20939477;21054789;21084396;21096864;21121067;21128211;21205918;21212630;21247344;21254281;21277338;21285872;21308375;21308777;21327739;21347550;21401418;21415150;21471203;21570392;21655089;21659661;21660578;21673630;21688123;21688312;21688537;21702718;21720209;21755409;21777514;21842277;21876344;21885439;21907184;21923031;21998741;22102412;22119392;22270235;22310349;22323359;22359486;22366399;22496405;22540193;22542719;22583106;22652428;22652796;22674456;22771956;22778550;22791809;22886971;22894570;22958403;22961954;22965927;23010719;23017834;23023810;23079991;23088504;23122408;23142810;23150675;2315314;23160099;23161572;23192572;23239467;23251661;23266556;23276457;23313904;23341458;23359411;23360788;23396134;23423222;23461810;23506588;23528838;23537995;23563607;23669352;23708553;23716395;2376592;23790163;23825642;23900689;23901942;23916851;23918166;24008158;24060635;24077220;24100446;24144296;24153173;24175816;24247005;24266740;24321094;24339730;24387671;24393182;24406215;24492129;24561081;24573607;24601881;24828823;24885555;3201241;7791754;7811286;8006002;8752214;9187146;9197246;9213002;9493905;9693150;9872992 650 C8C060;P12643 ABBA01053905;AF040249;AL035668;AMYH02036663;BC069214;CH471133;GQ335529;GQ335531;HI961649;KC294426;KF250425;M22489;NG_023233;NM_001200 AAA51834;AAF21646;AAI40326;AAI48690;ACE86832;ACE87518;ACV32585;ACV32587;AGG86667;AGW22219;CBY84970;EAX10386;EAX10387;NP_001191;P12643 Hs.73853 1339398;1647797;1769780;1795438;2110529;2157002 BMP2_294;D20S1011;D20S892;MARC_41391-41392:1086625030:1;RH66075;RH71375 BDA2;BMP-2A;BMP2A OTTHUMP00000030228;bone morphogenetic protein 2A APPROVED protein-coding ENSG00000125845 HGNC:1069 00206 112261;112600;235200 REVIEWED 1605441 BMP1 bone morphogenetic protein 1 This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008] 8 8 8 p21.3 20984783 21032542 + 22022653 22069839 + 22165140 22212326 + 6480464;8699517;7240710;8554872 10479448;10806203;11260715;11283002;11741999;11986329;12218058;12393877;12477932;12637537;12637569;14702039;14759258;15225209;15525470;15591058;15817489;15857508;16169070;16344560;16507574;16806233;16824737;17071617;17255107;17407447;17516847;17548836;18056036;18349123;18624398;18824173;18854154;19305382;19323056;19617627;19801683;20026052;2004778;20237496;20628624;20955454;21258932;21415150;21453682;21697095;21897187;21946044;22052668;22482805;22860217;23505323;23584484;23640157;24042462;24984282;3201241;7798260;8404039;8530106;8553073;8643539;9500680 649 B7ZKR5;E5RH22;P13497;Q3MIM8 AB012098;AB209590;ABBA01005507;ABBA01005508;ABBA01005509;AC105206;AF318323;AK126396;AK226123;AK291620;AL137746;AMYH02017589;BC002593;BC009305;BC032105;BC044626;BC101763;BC101765;BC136679;BC142953;BC143338;BC144365;BC144366;BE619065;BU627735;CH471080;DA720194;DA864391;DR004420;L35278;L35279;M22488;NG_029659;NM_001199;NM_006129;NR_033403;NR_033404;U50330;XM_006716386;XR_428315;Y08723;Y08724;Y08725 AAA51833;AAA93462;AAC41703;AAC41710;AAI01764;AAI01766;AAI36680;AAI42954;AAI43339;AAL55830;BAA76306;BAD92827;BAF84309;CAA69973;CAA69974;CAA69975;EAW63697;EAW63698;EAW63702;NP_001190;NP_006120;P13497;XP_006716449 Hs.1274 1660966;1671114;1725833;1742917;1769489;1786790;2113882;2137518;2153216;2155247;2178086;5014053 A005O36;D14S1296;D1S3693;G62003;GDB:215516;RH66510;RH78298;RH78932;SFTPC;SGC35299;SHGC-156059;WIAF-1622 FLJ44432;OI13;PCOLC;PCP;PCP2;TLD;pCP-2 OTTHUMP00000123391;OTTHUMP00000224828;OTTHUMP00000224832;OTTHUMP00000224834;OTTHUMP00000227399;mammalian tolloid protein;procollagen C-endopeptidase;procollagen C-proteinase;procollagen C-proteinase 3 APPROVED protein-coding ENSG00000168487 HGNC:1067 00209 112264;614856 REVIEWED 1353352 BMP10 bone morphogenetic protein 10 The protein encoded by this gene is a member of the TGF-beta family of growth factors. Data suggest that the similar protein in mouse plays an important role in trabeculation of the embryonic heart. In human, this protein may signal through receptor serine/threonine kinases. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 68943104 68949140 - 69092613 69098649 - 68865481 68871517 - 1580863;2302083;6480464;8554872 17921333 10072785;12477932;15489334;15815621;16049014;17068149;19903896;19913121;20237496;20608934;20628086;20634891;20734064;21550985;21737454;21988832;22718755;23645739 27302 O95393 ABBA01075491;AC097495;AF101441;AMYH02004015;BC069080;BC101734;BC105063;CH471053;NG_032117;NM_014482 AAC77462;AAH69080;AAI01735;AAI05064;AAY15075;EAW99863;NP_055297;O95393 Hs.158317 1795434 BMP10_720 BMP-10;MGC126783 OTTHUMP00000159973 APPROVED protein-coding ENSG00000163217 HGNC:20869 09788 608748 REVIEWED 1344269 BMP2KL BMP2 inducible kinase-like, pseudogene INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) X X X q13.2 73689230 73690613 + 73405760 73407143 + 74185925 74187308 + 6480464 347359 Q5H9B9 ABBA01059593;AMYH02039775;NG_009518;Z83843 Q5H9B9 APPROVED pseudo HGNC:17080 INFERRED 735356 BMP3 bone morphogenetic protein 3 BMP3 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic protein, also known as osteogenin, induces bone formation. [provided by RefSeq, Jul 2008] 4 4 4 q21 79245158 79271726 + 81952119 81978685 + 81030965 81057531 + 1580863;2289037;6480464 16651391 11138004;11642720;12477932;13678778;15269709;15475196;15489334;17924656;18311777;18391951;19199708;19453261;1970330;2004778;20143330;20238409;20532035;20734064;21415150;21628466;2211625;22303795;23127436;23396134;23449627;23455924;24993691;2612162;3201241;7811286;9434787 651 P12645 ABBA01063411;AC093883;AMYH02009575;AMYH02009576;BC096269;BC096270;BC096271;BC117514;CH471057;M22491;NM_001201;XM_006714291 AAA51836;AAH96269;AAH96270;AAH96271;AAI17515;EAX05866;NP_001192;P12645;XP_006714354 Hs.387411 1652871;2136538;2179601 RH66829;SHGC-51737;STS-M22491 BMP-3;BMP-3A OTTHUMP00000160802;bone morphogenetic protein 3 (osteogenic);bone morphogenetic protein 3A;bone morphogenetic protein-3;osteogenin APPROVED protein-coding ENSG00000152785 HGNC:1070 00208 112263 REVIEWED 1344234 BMP7 bone morphogenetic protein 7 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development and possible bone inductive activity. [provided by RefSeq, Jul 2008] 20 20 20 q13 52484025 52581945 - 55743809 55841707 - 57168753 57266651 - 1580863;1643589;2289029;2289030;2289031;2289041;1643225;2289034;1601494;2289039;1643590;2289032;2289033;2289036;2289037;2289038;6480464;6484113;6907045;8554872 12539225;15277215;15861517;16034630;16284088;16549155;16651391;17004110;17437042;17644140;17656261;17696121;17895257;9626398;9808158 10912525;11401538;11438941;11472891;11502704;11580864;11769973;11780052;12385776;12477932;12478285;12478660;12594282;12631064;12667445;12734180;12740218;12741987;12792780;12811818;12919879;12925612;1427904;14517293;14587033;14623234;14660436;14679171;14702039;14751565;14981086;15020244;15100360;15489334;15574511;15929982;15994952;16049014;16126463;16325379;16344560;16419056;16646979;16686760;16719933;16807538;16831023;16846353;16899516;17003840;17018615;17244894;17262821;17264867;17415633;17478078;17497692;17522432;17530715;17530716;17624341;17724140;17909016;17977014;18029192;18032587;18160010;18184661;18259822;18292470;18328806;18349123;18393351;18436533;18437684;18465455;18496506;18508541;18514338;18560367;18621057;18978678;18980801;19056781;19108831;19112509;19116903;19180920;19240369;19283074;19301001;19396502;19403392;19453255;19453261;19597895;19725097;19736306;19816049;19846067;19850743;19913121;19950204;20085912;20093492;20126477;20188872;20237496;20424473;20445470;20506283;20530416;20540029;20546278;20573231;20628086;20632031;20656331;20670444;20677014;20682677;20734064;20887146;20932341;20952383;21080950;21110425;21224856;21305726;21317922;21447156;21458096;21485009;21506685;21591998;21609526;21644225;21738478;21765909;21842277;21896235;21898381;21906983;21913019;21924665;21935711;22048752;22099397;22118688;22124112;22140272;22209770;22209843;22212474;22244873;22253716;22305102;22447022;22490392;22525892;2263636;22674456;22720873;22778550;22795855;22958403;23046931;23126427;23132958;23179403;23243027;23386650;23455153;23471555;23504348;23539268;2357959;23580474;23651239;23697978;23747893;23825642;23888776;24008158;24069261;24072698;24117149;24184479;24190429;24284793;24384427;7560881;7644468;7791754;8006002;8297380;8570652;8605097;8889548;9311995;9693150;9748228;9872992 655 A8K571;B1AKZ9;B1AL00;H0Y4B5;P18075 ABBA01052919;ABBA01052920;ABBA01052921;AF210054;AF289090;AK094784;AK291186;AK312419;AL122058;AL157414;AMYH02037351;AMYH02037352;BC004248;BC008584;BM683430;CH471077;CQ786476;CS150682;CS237122;CS279049;CS284582;CS410513;CS455741;CS670983;DA740733;EU679366;GM868923;HC190935;JB345838;KJ875974;M60316;NG_032771;NM_001719;X51801 AAA36738;AAF97256;AAG43508;AAH08584;ABM82420;ABM85611;ABW03413;ACD50899;AIL24690;BAF83875;BAG35329;CAA36100;CAG17752;CAJ29673;CAJ47525;CAJ86525;CAJ98562;CAL47728;CAL85403;CAP07469;CAV07685;CBI69260;CDH92867;EAW75529;EAW75530;EAW75531;NP_001710;P18075 Hs.473163 1674555;1685732;1718157;1788182;1797326;2143144;2145917;2167457;5015961;5022450;5022588;5037552 BMP7_1982;Bmp7;D10S275;D15S1477;D5S1597E;D8S2279;RH122846;RH66106;RH78681;RH92030;SHGC-11943;Z94370 BMP-7;OP-1 OTTHUMP00000031357;OTTHUMP00000166092;OTTHUMP00000166093;OTTHUMP00000166094;osteogenic protein 1 APPROVED protein-coding ENSG00000101144 HGNC:1074 00212 112267 REVIEWED 730832 BMP4 bone morphogenetic protein 4 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5' untranslated region of this gene has been described and three variants are described, all encoding an identical protein. [provided by RefSeq, Jul 2008] 14 14 14 q22-q23 34466196 34473296 - 54416454 54423554 - 53949736 53956836 - 734648;1580863;2289025;2289037;1643593;1643597;1643592;2289003;2289004;2289006;629544;1643589;1643590;1643225;1643229;2296026;6480464;6484113;6907045;7240710;8699518;8554872;8698665;8699491;8699493;9068399;9068432;9068407;8699496;8699500;8699519;8699517;8698669;9068434;9068443;9068408;9068397;9068447;9068457;8698668;8699510;8699514;8847123;9068398;9068437;8699495;9068402;9068404;9068442;9068449;8699501;8699511 10701160;11722794;12552124;12782598;12810166;14710472;15352071;16332232;16393252;16420416;16447218;16447265;16488995;16519147;16651391;16730912;16818050;17004110;17275231;17286956;17570215;17644140;17661743;17696121;18021008;18280291;18422975;18803859;19035511;19158083;19404941;19557432;19956410;21034624;21411747;22027561;22392094;22658483;22710965;22752548;23236544;23747723;23770801;24492129;8678932 10021330;10457277;10657699;10706139;10809227;10894154;11023873;11156467;11241215;11260715;11282024;11427739;11441185;11472891;11502704;11642720;11706034;11771659;11865031;11867524;12019147;12045205;12054672;12064918;12141440;12163415;12235106;12399320;12404109;12421925;12445813;12477932;12531697;12606287;12631064;12702499;12766166;12865307;12897139;14660436;14672349;14749725;14973287;15020244;15039429;15102076;15173106;15186723;15231748;15388638;15451575;15489334;15516325;15516492;15591037;15775969;15777683;15861517;16126463;16195406;16341674;16373339;16514669;16542506;16604289;16719933;16769910;16816361;17003113;17003840;17015616;17118062;17189614;17207965;17244894;17253944;17255107;17262821;17272306;17275810;17343268;17350185;17429723;17472960;17516553;17556598;17600318;17624341;17640799;17696196;17708801;17720811;17785623;17847004;17850284;17850776;17967130;17989347;17992660;18029192;18076106;18252212;18292231;18305125;18317771;18319260;18326817;18365875;18369157;18385288;18400943;18436533;18437684;18537141;18551993;18587495;18596037;18632632;18643848;18664625;18683889;18720384;18771417;18775317;18787191;18818419;18823971;19011631;19213939;19240369;19249007;19269967;19321257;19407504;19450561;19453261;19473100;19488929;19661459;19685083;19763374;19799789;19814781;19816200;19819988;19839778;19913121;19914800;19915575;19923894;19950207;20001220;20023658;20054823;20057906;20144598;20146882;20157553;20182795;20301552;20437058;20480203;20486775;20505824;20506112;20546278;20573231;20619754;20628086;20628624;20634891;20659471;20668459;20672350;20682677;20705941;20730570;20734064;20844743;20858598;20931521;20949628;21050181;21054789;21072679;21092609;21128211;21152263;21186333;21228692;21340693;21362572;21456062;21565626;21655089;21670081;21673106;21674241;21704030;21855631;21868759;21906983;21927809;22019704;22052794;22064324;22076569;22103619;22105615;22118688;22158048;22158624;22167620;22170598;22191848;22209843;22210872;22241220;22350792;22383492;22396540;22447857;22504665;22514733;22535375;22546285;22610502;22641693;22698853;22700770;22736943;22886282;22899288;22971142;22988237;23010644;23079991;23161572;23208015;23232839;23243277;23259602;23386650;23388637;23454123;23468018;23493551;23590708;23643939;23651239;23673366;23702483;23704328;23841782;23899883;23937428;23939983;23993924;24013228;24044460;24072698;24099560;24100446;24131739;24284793;24311462;24350253;24398041;24400095;24460721;24477565;24532425;24727450;24782191;24923741;3201241;7558046;7579580;7644468;7673243;7811286;8006002;8146069;8645259;8674409;8702914;8752214;8889548;9187146;9389648;9701626;9804553 652 H0YLW3;H0YM53;H0YMP9;P12644;Q53XC5;V9GYF1 ABBA01018188;AF035427;AF035428;AF210053;AL138479;AMYH02029213;AX552085;BC020546;BQ083000;BU683974;BX161385;BX161438;CH471061;D30751;EU518936;HB975907;KF250427;M22490;NG_009215;NM_001202;NM_130850;NM_130851;U43842;XM_005268015 AAA51835;AAC72278;AAH20546;ABW03634;ACB21039;ADQ32405;AGW21692;BAA06410;CAD57968;CAD61876;CAD61909;CBE74713;EAW80628;EAW80629;EAW80630;EAW80631;NP_001193;NP_570911;NP_570912;P12644;XP_005268072 Hs.68879 1648777;1777240;1795440;2178138;2179903;2191729;5492305 BMP4_296;Bmp4;G15892;MARC_5761-5762:996690803:2;RH47295;RH66828;SHGC-57004 BMP-2B;BMP-4;BMP2B;BMP2B1;MCOPS6;OFC11;ZYME OTTHUMP00000178992;bone morphogenetic protein 2B APPROVED protein-coding ENSG00000125378 HGNC:1071 00207 112262;600625;607932 REVIEWED 1350917 BMP6P1 bone morphogenetic protein 6 pseudogene 1 22 22 22 q11.2 6357301 6358947 + 22539860 22541506 + 22185470 22187116 + 19738031;9074928 266700 ABBA01055082;AC245517;D87000;NG_000002 1777055 D22S585 TGF-beta1P;TGFB1P pseudo HGNC:19329 VALIDATED 1314330 BMP5 bone morphogenetic protein 5 This gene encodes a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as prepropeptides, cleaved, and then processed into dimeric proteins. This protein may act as an important signaling molecule within the trabecular meshwork and optic nerve head, and may play a potential role in glaucoma pathogenesis. This gene is differentially regulated during the formation of various tumors. [provided by RefSeq, Jul 2008] 6 6 6 p12.1 57281444 57401579 - 55618451 55740388 - 55755438 55875590 - 1580863;6480464;6907045 11564221;11580864;11642720;11807867;11865031;11967953;12131877;12477932;1427904;14574404;14660436;15489334;15516325;15861517;16542506;17220169;17656261;19584291;19935299;20021689;20379614;20734064;21319131;21704030;2263636;22844442;24384427;7811286;8630036;9950587 653 B4E0Y4;M9VUD0;P22003 ABBA01050502;ABBA01050503;ABBA01050504;AK291559;AK303576;AL133386;AL137178;AMYH02013771;AMYH02013772;BC027958;CH471081;KC485577;M60314;NM_021073;S81957;XM_005249304 AAA36736;AAH27958;AGJ83825;BAF84248;BAG64596;EAX04447;NP_066551;P22003;XP_005249361 Hs.296648 1340791;1661606;1663362;1694206;1718573;1794802;1851199;2169601 AL035197;D6S1276;D6S1661;PMC56999P1;RH122491;RH35693;RH71440;STS-M60314 BMP-5;MGC34244 OTTHUMP00000016650;bone morphogenenic protein-5 APPROVED protein-coding HGNC:1072 00210 112265 REVIEWED 1353193 BMP6 bone morphogenetic protein 6 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008] 6 6 6 p24-p23 8956438 9111399 + 7727011 7881972 + 7726778 7881728 + 1580863;2289017;2289018;2289024;1643590;2289020;6480464;6484113;6907045;7242189;7242194;7242407;7242413;7242415;7242419;8554872 11245809;16166304;16388909;17004110;18072288;20016212;21356359;21859731;22361727;22364398;23097200 10504300;10582704;11401330;11865031;12140680;12477932;12897139;13130469;1427904;1453478;14558086;14574404;14623234;14660436;15186723;15516325;15548695;15784727;15861517;15877825;16527843;16547600;16604289;16886151;17238135;17244894;17262821;17574840;17575215;17577985;17879955;17899540;17924656;18070108;18187665;18308844;18326817;18349123;18391951;18436533;18632632;18683889;18688853;18805502;18931653;18949431;19075223;19093115;19245827;19252488;19266077;19308091;19366699;19539911;19543302;19694819;19718049;19765379;20048150;20379614;20401668;20460105;20530805;20546612;20567515;20573596;20587610;20605837;20634891;20734064;20844121;20881960;21136273;21622652;21898381;21963094;22086350;22305102;22419666;2263636;22641693;22792339;23049088;23563607;23674072;23799295;24012720;24185914;24498236;24518599;24875397;7605353;7811286;8089189;9116752;9331107;9417921;9435314;9512655 654 B4DUF7;P22004;Q4VBA3 ABBA01022046;ABBA01022047;ABBA01022048;AF083030;AK300628;AL133541;AL135778;AMYH02013062;AMYH02013063;BC096084;BC096085;BC099624;BC099625;BC111763;BC112352;BC113018;BC113019;BC128031;CH471087;KF458088;M60315;NM_001718 AAA36737;AAC33283;AAH96084;AAH96085;AAH99624;AAH99625;AAI11764;AAI12353;AAI13019;AAI13020;AAI28032;AAI60106;BAG62319;EAW55219;NP_001709;P22004 Hs.285671 1649676;1654410;1694260;1697148;1708270;1713133;1713297;1751037;1761537;1852382;2178853 A002L04;AL035176;D6S1842;NIB594;RH102060;RH120353;RH120640;SHGC-104947;SHGC-145537;SHGC-79401;WI-13193 BMP-6;VG-1-R;VGR;VGR-1;VGR1 OTTHUMP00000016006;VG-1-related protein;Vg1-related sequence;vegetal related growth factor (TGFB-related);vegetal-related (TGFB related) cytokine 2289435 BMD4_H APPROVED protein-coding ENSG00000153162 HGNC:1073 00211 112266 REVIEWED 1353972 BMPR1APS1 bone morphogenetic protein receptor, type IA pseudogene 1 6 6 6 q22.33 130224958 130226552 - 129478671 129480265 - 129157526 129159120 - 10051328 100421515;359949 ABBA01025917;ABBA01025918;AL669984;AMYH02014466;NG_025866 pseudo HGNC:21742 INFERRED 1350211 BMP8A bone morphogenetic protein 8a ENCODES a protein that exhibits cytokine activity (inferred); growth factor activity (inferred); INVOLVED IN diet induced thermogenesis; negative regulation of insulin secretion; regulation of energy homeostasis; PARTICIPATES IN Hedgehog signaling pathway; transforming growth factor-beta superfamily mediated signaling pathway; FOUND IN extracellular space (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; quercetin 1 1 1 p34.3 38238694 38277383 + 39957318 39995541 + 39491646 39529869 + 1580863;6480464;6907045 12477932;14702039;16710414;20237496;20424473;20467438 353500 Q7Z5Y6;Q9H7R1 AA732526;ABBA01023208;ABBA01023209;AK024413;AK127199;AL365277;AMYH02000833;AY303954;BC093743;BC112044;BC131617;BU616301;CH471059;NM_181809;XM_006710616 AAH93743;AAI31618;AAP74559;BAB14915;BAC86882;EAX07272;EAX07273;NP_861525;Q7Z5Y6;XP_006710679 Hs.472497 1678043;1686260;1704972;1729734;2180677;2220574;5015861;5016781;5037552;7185938 AL010109;D10S16;D1S168;D8S2279;RH76261;RH93165;SHGC-67307;SHGC-77986;UniSTS:485525 BMP-8A;FLJ14351;FLJ45264 OTTHUMP00000010046 protein-coding HGNC:21650 16555 VALIDATED 1351193 BMPR1APS2 bone morphogenetic protein receptor, type IA pseudogene 2 11 11 q24.1 121232562 121233631 - 121361853 121362922 - 100533800;359950 ABBA01031305;AMYH02025687;AP002959;NG_028805 pseudo HGNC:21743 INFERRED 9068492 BMP7-AS1 BMP7 antisense RNA 1 20 q13.31 57213696 57215866 + 102723590 ABBA01052920;AL122058;AMYH02037352;BX104623;HG511472;HY007704;HY191606;NR_110631;XR_425253;XR_430329;XR_433622 Hs.667674 ncrna HGNC:40096 VALIDATED 1604514 BMPER BMP binding endothelial regulator This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011] 7 7 7 p14.3 33926362 34175842 + 33944523 34195484 + 33904911 34155872 + 6480464;8699517;7240710;8554872 11853319;12477932;12690205;12897139;14702039;14766204;15489334;16344560;18787191;20869035;21990102;22020334;22474252;22772758;22778264;23641068 168667 C9JY72;F8WDG9;G5E9K4;Q8N8U9 AACC02000103;AB075845;ABBA01056873;ABBA01056874;ABBA01056875;AC007350;AC010002;AK289963;AMYH02015499;AMYH02015500;AMYH02015501;AMYH02015502;AMYH02015503;AY324650;BC060868;BX380517;DB322218;NG_031933;NM_133468;XM_005249633;XM_005249634;XR_428072 AAH60868;AAP89012;BAB85551;BAF82652;EAL24468;NP_597725;Q8N8U9;XP_005249690;XP_005249691 Hs.660998 1341079;1671835;1677680;1718947;1755911;1759165;1786456;2120881;2151161;2153809;2183873;5022679 BMPER;D7S1421;D7S2373;D7S683;G16044;RH123180;RH48328;RH79923;SHGC-142745;SHGC-172305;SHGC-3490;WI-14030 CRIM3;CV-2;CV2;hCV2 BMP-binding endothelial regulator precursor protein;BMP-binding endothelial regulator protein;OTTHUMP00000158859;bone morphogenetic protein-binding endothelial cell precursor-derived regulator;crossveinless 2;crossveinless-2 APPROVED protein-coding ENSG00000164619 HGNC:24154 16368 608022;608699 REVIEWED 8694008 BMPR1B-AS1 BMPR1B antisense RNA 1 (head to head) 4 4 4 q22.3 92961733 92975594 - 95664825 95679129 - 94743674 94757978 - 100507012 ABBA01063626;AC093634;AI150588;AMYH02009761;HG497085;NR_121610;XR_109821;XR_112666;XR_171461 Hs.128612 ncrna HGNC:50864 VALIDATED 1354405 BMPR1B bone morphogenetic protein receptor, type IB This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 4 4 4 q22-q24 93094009 93376257 + 95679128 96079601 + 94757977 95158450 + 1334470;1600593;1580863;5129472;5129470;6480464;6484113;6907045;7240710;8554872;8699517 14523231;15805157;18292470;19324947 10051328;10504300;10712517;10850425;11266516;11279102;11282024;11312159;11401330;11420127;11483516;11781009;12065756;12135884;12419820;12477932;12857866;14576167;15064755;15192043;15235019;15489334;15611116;15621726;15761153;15775969;15897891;16014698;16436528;17001689;17203235;17356069;17363346;17381068;17624341;18184661;18436533;18619554;18758450;18773965;19135982;19451094;19453261;19513897;19738052;19758997;19782107;19953087;20201926;20467438;20587070;20634891;20673479;20732626;20734064;21152263;21556765;21791611;21832049;22293501;22294741;22374147;22384028;22971142;24008158;24021264;24100446;24529757;24850914;7791754;7811286;8006002;8140412;8605097;8702914;8707881;9178898;9436979;9525338;9730621;9872992;9950587 658 A8KAE3;D6RAW8;D6RGW8;O00238 ABBA01063626;ABBA01063627;ABBA01063628;ABBA01063629;ABBA01063630;AC004061;AC092609;AC093634;AC105395;AK293008;AK299930;AK313642;AMYH02009761;AW299723;BC047773;BC069796;BC069803;CH471057;D89675;NG_009245;NM_001203;NM_001256792;NM_001256793;NM_001256794;U89326;XM_006714292 AAC28131;AAH47773;AAH69796;AAH69803;BAA19765;BAF85697;BAG36400;BAG61763;EAX06060;NP_001194;NP_001243721;NP_001243722;NP_001243723;O00238;XP_006714355 Hs.598475 1336908;1339981;1651281;1705916;1708198;1718743;1726439;1771947;1852562;1855047;2123750;2131954;2163680;2165139;2166465;2177437;5020841;5492363 D4S1045;D4S2278;D4S2380;G41993;G62599;MARC_8975-8976:1025019065:3;RH123060;RH70713;SHGC-24790;SHGC-51110;SHGC-51118;SHGC-51758;SHGC-59827;SHGC-67739;SHGC-78087;SHGC-79355;SHGC-9264;SHGC4-1504 ALK-6;ALK6;CDw293 BMP type-1B receptor;BMPR-1B;OTTHUMP00000161621;OTTHUMP00000161622;OTTHUMP00000219359;OTTHUMP00000219880;OTTHUMP00000219882;activin receptor-like kinase 6;bone morphogenetic protein receptor type-1B;serine/threonine receptor kinase APPROVED protein-coding ENSG00000138696 HGNC:1077 04457 112600;603248;609441 REVIEWED 735373 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008] 2 2 2 q33-q34 196992827 197184404 + 203241033 203432474 + 202376327 202567751 + 1580076;1580077;1580863;5129488;5129474;5129239;5129472;5129486;5129230;5129237;5129470;5129473;2289041;5129238;6480464;5135278;6484113;6907045;7240710;8554872;8699517 10996456;15775752;16361357;18292470;18663089;18723761;19324947;19785764;20002458;20534176;21070126;21521772;9080432;9626398 10051328;10504300;10712517;10880444;10903931;10964520;10973254;11015450;11115378;11401330;11484688;11502704;11686884;11714695;12045205;12135884;12221115;12358323;12415595;12477932;12543773;12819188;12963706;14583445;14676131;14702039;15031260;15055271;15146475;15188402;15235019;15295086;15354178;15358693;15489334;15492256;15516492;15591269;15621726;15657086;15687131;15699281;15824058;15965979;16002577;16122479;16155937;16198295;16282533;16339782;16339917;16344560;16429395;16429403;16436528;16615932;16717148;16782755;16982201;17102831;17203235;17277049;17318011;17322283;17356069;17363346;17472960;17515463;17576816;17624341;17641158;17700526;17992660;18159113;18187665;18221724;18321866;18342887;18356561;18364108;18436533;18436795;18496036;18503968;18621057;18647753;18792970;19051722;19059957;19195606;19206171;19223935;19265191;19307479;19357154;19366699;19390056;19424179;19453261;19531247;19552837;19578724;19628780;19634078;19782107;19844076;19864167;19913121;20011660;20096498;20301658;20346360;20379614;20410205;20587070;20634891;20663871;20734064;20870717;20955454;21030519;21139048;21152263;21311592;21622843;21801371;21808054;21821917;21898662;21900206;21962132;22048752;22129439;22293501;22312021;22341419;22632830;22684006;22718755;22894880;22923421;22923661;22961979;22988237;23000965;23079343;23080069;23098893;23115311;23142694;23263486;23579436;23675998;23843612;23967299;24008158;24132125;24274756;24337809;24355637;24398041;24446489;24605778;24881940;7644468;7673243;7791754;7890683;8592941;8702914;8707881;9054941;9193425;9442116;9525338 659 Q13873 ABBA01062560;ABBA01062561;ABBA01062562;ABBA01062563;ABBA01062564;ABBA01062565;ABBA01062566;ABBA01062567;ABBA01062568;ABBA01062569;ABBA01062570;ABBA01062571;ABBA01062572;ABBA01062573;ABBA01062574;ABBA01062575;ABBA01062576;AC009960;AC064836;AC073410;AK023426;AK093832;AK123579;AK292430;AMYH02005566;AMYH02005567;AMYH02005568;AMYH02005569;AMYH02005570;AMYH02005571;AMYH02005572;AMYH02005573;AY277593;BC018743;BC032011;BC035097;BC041039;BC043650;BC052985;BF063564;BG530017;BQ889263;BQ896556;BU176845;C15977;CH471063;D50516;DA787547;DB233604;NG_009363;NM_001204;U20165;Z48923 AAC50105;AAH52985;AAQ18032;AAX76517;AAX88941;AAY24146;BAA09094;BAF85119;CAA88759;EAW70309;EAW70310;NP_001195;Q13873 Hs.471119 1665836;1666030;1670131;1689049;1751007;1769397;1797330;1854354;1856984;2114657;5016478 BMPR2_2375;D2S2918;G31437;G31877;GDB:434012;RH48774;RH69577;RH69994;RH94008;SHGC-104910;SHGC-57059 BMPR-2;BMPR-II;BMPR3;BMR2;BRK-3;FLJ41585;FLJ76945;POVD1;PPH1;T-ALK BMP type II receptor;BMP type-2 receptor;OTTHUMP00000164984;OTTHUMP00000164985;bone morphogenetic protein receptor type II;bone morphogenetic protein receptor type-2;bone morphogenic protein receptor, type ii (serine/threonine kinase);type II activin receptor-like kinase;type II receptor for bone morphogenetic protein-4 APPROVED protein-coding ENSG00000204217 HGNC:1078 02880 178600;265450;600799 REVIEWED 7367699 BMS1P10 BMS1 pseudogene 10 22 9 9 q13 5677423 5678127 + 67327775 67334984 - 63372803 63380012 - 11779832 728611 AL845321;AMYH02020800;NG_011422 pseudo HGNC:49154 INFERRED 7382278 BMS1P13 BMS1 pseudogene 13 9 9 q21.11 70334349 70337920 - 65828125 65831696 + 11779832 644716 BX284632;NG_005577 BMS1P14 pseudo HGNC:49158 INFERRED 7373733 BMS1P11 BMS1 pseudogene 11 9 9 q21.11 69718152 69721724 - 64705734 64709306 - 11779832;15164053 644632 AL359955;AL445665;NG_011503 pseudo HGNC:49156 INFERRED 1353706 BMP8B bone morphogenetic protein 8b The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has led to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008] 1 1 1 p35-p32 38505667 38535974 - 40223903 40254533 - 39758231 39788861 - 6480464;6907045 10894154;11427739;12477932;1460021;15063762;16314833;16710414;17474147;20379614;20734064;21145461;24076131;7757816;9070944 656 E7EMY8;P34820 ABBA01023201;AL033527;AL049824;AMYH02000837;AY303955;BC023526;BC108678;BQ888513;CH471059;F07575;NM_001720;XM_005271149 AAI08679;AAP74560;EAX07254;NP_001711;P34820;XP_005271206 Hs.734367 1686260;1729734;1797328;2180677 AL010109;BMP8B_2501;D1S168;RH93165 BMP-8;BMP-8B;BMP8;MGC131757;OP2 OTTHUMP00000010836;bone morphogenetic protein 8 (osteogenic protein 2);dJ118J21.1 (bone morphogenetic protein 8 (osteogenic protein 2));osteogenic protein 2 APPROVED protein-coding HGNC:1075 03792 602284 REVIEWED 7383219 BMS1P12 BMS1 pseudogene 12 9 9 q21.11 70083601 70087177 - 65189995 65193571 - 644684 AL512605;NG_030262 pseudo HGNC:49157 INFERRED 1345685 BMS1 BMS1 ribosome biogenesis factor This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009] 10 10 10 q11.21 39281288 39333715 + 43277954 43330385 + 42782506 42834937 + 1580863;6480464;6907045;8699517 10942432;11565749;11779832;11790298;12477932;15489334;15635413;16344560;18029348;19204726;19471022;19596686;19615732;19850743;21139048;21685912;21693764;21906983;21907836;22113938;22586326;22952844;23000965;23785305;24457600;24816145;8724849 9790 Q14692 ABBA01049992;ABBA01049993;AI184520;AI718109;AK308420;AL022344;AMYH02022702;AMYH02022703;BC043345;BC150252;BX485446;CH471160;D80009;DB064246;KF455225;NM_014753;XM_005271846;XM_005271847;XM_005271848;XM_005271849;XM_006718081;XR_246522;XR_428728 AAH43345;AAI50253;BAA11504;EAW86571;EAW86572;EAW86573;NP_055568;Q14692;XP_005271903;XP_005271904;XP_005271905;XP_005271906;XP_006718144 Hs.10848 1678147;2109089;5114334 BMS1L_8992;RH15653;RH25401 ACC;BMS1L;KIAA0187 BMS1 homolog, ribosome assembly protein;BMS1-like, ribosome assembly protein;OTTHUMP00000019477;bms1-like, ribosome assembly protein (yeast);ribosome assembly protein BMS1 homolog;ribosome biogenesis protein BMS1 homolog APPROVED protein-coding ENSG00000165733 HGNC:23505 10689 107600;611448 REVIEWED 1348383 BMS1P1 BMS1 pseudogene 1 10 q11.22 46737612 46762892 - 11779832;16344560 728053 ABBA01013319;ABBA01017234;AL450334;AL603982;AMYH02022812;AMYH02022813;AMYH02022814;AMYH02022815;AMYH02022816;AMYH02022817;AMYH02022818;DA245014;NR_026566;XR_432570;XR_432571 Hs.571994;Hs.711898 BMS1LP1;bA556L1.3 bms1l pseudogene 1 pseudo ENSG00000204177 HGNC:23649 PROVISIONAL 734372 BMPR1A bone morphogenetic protein receptor, type IA The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008] 10 10 10 q22.3 82519484 82687979 + 88516396 88684945 + 86756639 86925188 + 1580863;734650;1600589;1600590;1600591;5129472;6480464;6484113;6907045;7240710;8554872;8699517 11381269;11536076;16525031;16685657;19324947 10051328;10504300;10692589;10712517;10850425;10880444;10881198;11139569;11241215;11263668;11266516;11278302;11282024;11401330;11438941;11580864;12065756;12135884;12136244;12417513;12477932;12620973;12630959;12857866;15064755;15148321;15235019;15252450;15351706;15489334;15611116;15621726;15657086;15940369;16198295;16226113;16341674;16385451;16436528;16436638;16613856;16672363;16886151;17081983;17101085;17356069;17513295;17573831;17624341;17873119;18160401;18178612;18184661;18262054;18436533;18510548;18667463;18823382;18937504;19244313;19438883;19453261;19463221;19502417;19758997;19773747;19953087;20301642;20346360;20360068;20587070;20634891;20663871;20673479;20693682;20734064;20843829;20927405;21139048;21152263;21258932;21412070;21543859;21640116;21791611;21872883;21906983;21987572;22210872;22293501;22519633;22623531;22710174;22886282;22939624;22971142;23000965;23399955;23433720;23593444;23969729;24008158;24140593;24398041;24850914;7644468;7791754;8006002;8397373;8592941;8605097;8702914;8707881;9136927;9389648;9525338;9547239;9663660;9730621;9738003;9950587 657 P36894 AB451405;ABBA01033683;ABBA01033684;ABBA01033685;ABBA01033686;ABBA01033687;ABBA01033688;AC021036;AC025268;AC067750;AK291764;AMYH02023483;AMYH02023484;AMYH02023485;AMYH02023486;BC028383;BM819272;CH471142;DQ786215;HI961666;NG_009362;NM_004329;Z22535 AAH28383;ABM82450;ABM85640;BAF84453;BAG70219;CAA80257;CBY84973;EAW80320;NP_004320;P36894 Hs.524477 1651848;1667410;1675027;1676940;1685229;1699860;1730405;1764371;1765095;1795442;5113823 BMPR1A_487;D10S1454;D10S1551E;D10S231E;RH103537;RH70975;RH80090;RH93276;SHGC-147966;SHGC-148622;STS-N27448 10q23del;ACVRLK3;ALK-3;ALK3;BMPR-1A;CD292;SKR5 BMP type-1A receptor;OTTHUMP00000020014;activin A receptor, type II-like kinase 3;activin receptor-like kinase 3;bone morphogenetic protein receptor type-1A;bone morphogenetic protein receptor, type 1a;serine/threonine-protein kinase receptor R5 APPROVED protein-coding HGNC:1076 03192 174900;601299;610069 REVIEWED 7372848 BMS1P17 BMS1 pseudogene 17 14 14 19670792 19681016 - 19306690 19316914 + 16344560 101101776 AL589743;AMYH02028785;AMYH02028786;BC040855;DA741885;NR_073460 Hs.617315;Hs.643607 LINC00516 pseudo ENSG00000228294 HGNC:49162 VALIDATED 7382741 BMS1P15 BMS1 pseudogene 15 15 15 15 q11.1 1 2969 - 20359029 20366079 + 20153776 20160826 + 11779832;12477932;15164053;16572171 642311 ABBA01018798;AC126603;AMYH02029982;BC107108;NG_011423 Hs.356398 pseudo HGNC:49160 INFERRED 1347648 BMS1P3 BMS1 pseudogene 3 10 10 10 q23.2 82755010 82763193 + 88752010 88760192 + 86992253 87000435 + 12477932 414217 ABBA01033689;AL136982;AMYH02023489;NG_006111 BMS1LP3 bms1l pseudogene 3 pseudo HGNC:23651 INFERRED 7380119 BMS1P16 BMS1 pseudogene 16 22 15 15 q11.2 5677423 5678127 + 21365634 21372686 + 21160305 21167357 + 11779832 727914 AC126335;AMYH02030005;NG_011424 pseudo HGNC:49161 INFERRED 7365578 BMS1P19 BMS1 pseudogene 19 2 2 2 q13 104593469 104594689 + 110424709 110425926 + 109667132 109668349 + 11779832 100131577 ABBA01008996;AC011753;AMYH02004522;CH471182;NG_011527 EAW53856 pseudo HGNC:49163 INFERRED 1345179 BMS1P2 BMS1 pseudogene 2 10 10 q11.22 47225563 47243511 - 46786851 46804367 + 11779832;15146197;16344560 414216 ABBA01000700;AK094691;AL391137;AL731733;AMYH02022926;AMYH02022927;AMYH02022928;BC008503;BC041413;BC051298;BG474237;CD684353;CN417542;CN417548;DA115686;NR_072978 Hs.463017;Hs.711898 2111133 D10S500E BMS1LP2 bms1l pseudogene 2 pseudo HGNC:23650 VALIDATED 1346998 BMS1P18 BMS1 pseudogene 18 14 14 q11.2 19894369 19904572 + 19083134 19093337 - 6480464 414763 AL589182;AMYH02028796;BC040855;NR_073459 Hs.617315 AL589743.2;C14orf17;LINC00516 long intergenic non-protein coding RNA 516 APPROVED pseudo HGNC:19436 VALIDATED 7377916 BMS1P8 BMS1 pseudogene 8 16 16 16 p11.2 28170122 28189081 - 33485634 33504599 - 33683167 33702132 - 11779832 653557 AC136428;AC142384;AC243983;NG_011420 pseudo HGNC:49152 INFERRED 1351957 BMS1P4 BMS1 pseudogene 4 10 10 10 q22.2 68742221 68773594 - 75458909 75490272 - 73699151 73730514 - 11779832;12477932 729096 ABBA01020313;AC022400;AC073389;AK294783;AMYH02023338;BC046139;BC063124;BC099910;BX955228;CH471083;NR_026592 BAG57908;EAW54513 Hs.709171 5015861;5037552;5114334;7185938 D10S16;D8S2279;RH25401 BMS1LP4 pseudo ENSG00000271816 HGNC:23652 PROVISIONAL 2305709 BMS1P20 BMS1 pseudogene 20 This locus appears to be a transcribed pseudogene of the BMS1 homolog of yeast ribosome assembly protein on chromosome 10 that has arisen from duplication of the 3' half of the parent gene. Frameshifts and premature stop codons are present in this pseudogene compared to the parent gene. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21.[provided by RefSeq, Mar 2009] 22 22 22 q11.22 6471978 6485282 + 22652463 22677324 + 22298098 22322968 + 11779832;12477932;14702039;16344560;9074928 96610 ABBA01055083;AC245060;AK090629;BC033148;BC133659;BX641141;CH878729;D87003;D87018;DB021899;DB472458;NG_000002;NR_027293;XR_430414 EAW53962 Hs.449601 APPROVED pseudo ENSG00000236850 HGNC:49153 14302 REVIEWED 1348554 BMS1P5 BMS1 pseudogene 5 INTERACTS WITH copper(2+) sulfate 10 10 10 q11.22 345 2919 - 48927373 48952629 - 46786733 46811989 + 6480464 11779832;12477932;16344560 399761 ABBA01000699;AK307333;AL450334;AL603982;AL731733;AL832069;AMYH02022926;AMYH02022927;AMYH02022928;BC017177;BC024278;BC065722;BC131568;BX641006;CR936774;DA245014;NR_003611;NR_026566;XR_432570;XR_432571 Hs.571994;Hs.711898;Hs.743373 5016832;5020740;5021228;5021872;5022578;5022651;5037552;5096328;5107782;5111598;5115168;5124345;5128005 D11S2921;D1S1423;D1S3475;D8S2279;GDB:312794;L17809;RH40140;RH48185;RH65856;SHGC-153454;SHGC-37191;WI-15534;sY3084 BMS1LP1;BMS1LP5;BMS1P1;bA556L1.3 bms1l pseudogene 5 pseudo ENSG00000204177 HGNC:23653 PROVISIONAL 1346721 BMS1P6 BMS1 pseudogene 6 10 10 q11.22 48185839 48203788 + 46786851 46804367 + 11779832;12477932;14702039;15146197;16344560 642826 AC245513;AK094691;AL391137;AL591684;BC008503;BC041413;BC051298;BG474237;CD684353;CN417542;CN417548;DA115686;DB072344;NR_024495;NR_072978 Hs.463017;Hs.711898 2111133;5021228;5022578;5037552;5111598 D10S500E;D1S1423;D8S2279;GDB:312794;RH65856 BMS1LP2;BMS1LP6;BMS1P2;bA302K17.2 pseudo HGNC:23654 VALIDATED 7380867 BMS1P9 BMS1 pseudogene 9 9 9 q13 66960618 66964189 + 63055646 63059217 + 11779832;12477932 653458 AL591379;NG_011528 pseudo HGNC:49155 INFERRED 1321747 BNC2 basonuclin 2 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); zinc ion binding (inferred); INVOLVED IN endochondral bone growth (inferred); mesenchyme development (inferred); palate development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 9 9 9 p22.2 16336475 16798503 - 16409501 16870786 - 16409503 16870800 - 6480464;8554872 12477932;14702039;14988505;15081112;15949438;16344560;16891417;16942855;18029348;18519826;19471022;19648919;19670330;19875614;19913121;20379614;20585627;20628086;20852632;20881960;21294870;21368915;21642636;21750727;21903422;23052946;23934736 54796 B1APH0;F5H586;H0Y4J1;H0Y6W5;Q06HB9;Q6ZN30;S4R351;S4R3K9;S4R3R8;S4R3X5 ABBA01065255;ABBA01065256;ABBA01065257;ABBA01065258;ABBA01065259;ABBA01065260;AK000050;AK025882;AK092247;AK131398;AK299073;AK304745;AL162418;AL449983;AL450003;AL450105;AMYH02019221;AMYH02019222;AMYH02019223;AMYH02019224;AMYH02019225;AMYH02019226;AMYH02019227;AW188023;AY438376;BC037160;BX641030;CR933649;DA494074;DB282126;DQ884933;DQ884934;DQ884936;DQ884937;DQ884938;DQ884939;DQ884940;DQ884941;DQ884942;DQ884944;DQ884945;DQ884946;DQ884947;DQ884948;KF458907;NM_017637;R69412;XM_006716784;XM_006716785;XM_006716786;XM_006716787;XM_006716788;XM_006716789;XM_006716790 AAI56478;AAI72513;AAR99389;ABI78982;ABI78983;ABI78984;ABI78985;ABI78986;ABI78987;ABI78988;ABI78989;ABI78990;ABI78991;ABI78992;ABI78993;ABI78994;ABI78995;BAA90908;BAB15269;BAC03837;BAD18545;BAG61139;BAG65504;CAI45950;NP_060107;Q6ZN30;XP_006716847;XP_006716848;XP_006716849;XP_006716850;XP_006716851;XP_006716852;XP_006716853 Hs.656581;Hs.693436;Hs.740070 1335204;1342375;1689819;1703926;1724771;1728153;1751125;1751659;1763197;1764609;1779458;1788932;2160866;2183737;2187543 D16S3069;D9S1089;D9S1839;G63499;RH122592;RH48002;RH92550;SHGC-104991;SHGC-105641;SHGC-146925;SHGC-148199;SHGC-153441;SHGC-83634;STS-H97910;UniSTS:224603 BSN2;DKFZp686A01127;FLJ20043;FLJ34928 BNC2 {ECO:0000312|HGNC:HGNC:30988};OTTHUMP00000021079;OTTHUMP00000125286;OTTHUMP00000126958;zinc finger protein basonuclin-2 protein-coding ENSG00000173068 HGNC:30988 12274 608669 VALIDATED 1343586 BMS1P7 BMS1 pseudogene 7 10 10 q11.22 49258300 49268060 - 48050278 48060016 - 11779832 100133265 AC245041;AL603966;NG_011418 BMS1LP7;KIAA0187;bA164N7.1 pseudo HGNC:23655 INFERRED 1319162 BNC1 basonuclin 1 The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Alternative splicing of this gene results in multiple transcript variants, and multiple polyadenylation sites are indicated.[provided by RefSeq, Jul 2014] 15 15 15 q25.2 60632983 60659894 + 83924655 83953468 - 83255903 83284716 - 1580863;6480464;8554872 10449744;10462520;10524234;10839715;11076863;11802773;12477932;1332044;15146197;15694340;16891417;19430199;20154727;20484983;20531302;21741828;23707421;24088737;24454902;8034748;9099851;9151672;9223293;9687312;9727087 646 F5GY04;Q01954 ABBA01029436;ABBA01029437;AC103876;AI921950;AK302992;AMYH02030928;CH471188;CN260997;DB051299;HY045483;L03427;NM_001301206;NM_001717;U59692;U59693;U59694;XM_005272447;XM_006720641 AAA35584;AAB53028;AAI11599;BAH13871;EAW62424;NP_001288135;NP_001708;Q01954;XP_005272504;XP_006720704 Hs.459153 2142250;2219036 BNC1__4457;D15S670 BNC;BSN1;HsT19447 OTTHUMP00000190870;zinc finger protein basonuclin;zinc finger protein basonuclin-1 APPROVED protein-coding ENSG00000169594 HGNC:1081 11799 601930 REVIEWED 1605440 BMX BMX non-receptor tyrosine kinase This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Sep 2009] X X X p22.2 19634383 19690144 + 15482356 15574652 + 15500777 15556529 + 6480464;8554872 10196179;10688651;10962576;11013262;11278797;11331870;11382770;11751885;11877430;12370298;12477932;12573241;14532277;14676838;14981536;15207703;15342556;15489334;16025104;16186805;16273093;16912182;16932810;17474147;17823122;18025155;18029348;18196928;18292575;18303054;18402776;18413754;19464057;19951526;20056178;20206622;20559570;20864667;21339702;21408190;21471444;21481791;21832049;21906983;21988832;22449076;22939624;22974441;23940030;24606948;24785188;7970727;8650201;8790141;9323053;9373245;9520419 660 P51813 ABBA01071313;ABBA01071314;ABBA01071315;ABBA01071316;ABBA01071317;ABBA01071318;ABBA01071319;AC097625;AF045459;AK291824;AK313568;AMYH02038914;BC016652;BP236451;BQ226991;CB998198;CH471074;NG_013227;NM_001721;NM_203281;U08341;X83107;XM_006724510 AAA17744;AAC08966;AAH16652;ABM81985;ABM87813;BAF84513;BAG36341;CAA58169;EAW98889;EAW98890;NP_001712;NP_975010;P51813;XP_006724573 Hs.495731 1342221;1702438;1703124;1734270;2156084;2159856;2162475;2171151;7186352 D4S2464E;DXS1053;DXS7016;DXS7320;DXS7664;DXS7970;DXS7972;SHGC-24715 ETK;PSCTK2;PSCTK3 BTK-like on X chromosome;Etk/Bmx cytosolic tyrosine kinase;NTK38 tyrosine kinase;OTTHUMP00000022964;OTTHUMP00000022965;OTTHUMP00000022966;bone marrow tyrosine kinase gene in chromosome X protein;cytoplasmic tyrosine-protein kinase BMX;epithelial and endothelial tyrosine kinase APPROVED protein-coding ENSG00000102010 HGNC:1079 02111 300101 REVIEWED 1348562 BNIP3P1 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1 14 14 14 q12 8599094 8600625 + 28733635 28735166 + 28264429 28265960 + 319138 ABBA01061372;AL139023;AMYH02028913;NG_002516 1683401;2123419;2142467 RH70571;RH71202;RH80015 BNIP3P APPROVED pseudo HGNC:19922 INFERRED 1350585 BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. This protein counteracts the apoptotic inducer BNIP3 and may play a role in tumor suppression. [provided by RefSeq, Mar 2011] 8 8 8 p21 25202906 25233027 + 26239894 26270644 + 26383007 26413128 + 1580863;2314029;6480464;7483579;7483577 14530762;19641503;23771482 10381623;10467396;11230166;12477932;12606722;12663450;14720367;15489334;15607964;16169070;16189514;16219518;17081983;17928295;18048346;18551130;18670647;19060904;19064571;19273585;20010802;20819778;21139048;21264228;21890473;21900206;21988832;22292033;22645275;22895009;22984526;23000965;23142642;9523198;9867803;9973195 665 B4DTN1;E5RFE9;H0YBC7;O60238;Q6IBV1 AA946755;AB004788;ABBA01005571;ABBA01005572;AC011726;AC022911;AF060922;AF067396;AF079221;AF255051;AF452712;AF536326;AK290213;AK300286;AK300727;AK307195;AK315870;AK316315;AL132665;AMYH02017660;AMYH02017661;AMYH02017662;BC001559;BC009603;BF337139;BQ719112;BT019500;BT019501;CD244492;CD558918;CH471080;CR456701;NM_004331;XM_005273617 AAC27723;AAD03589;AAF70290;AAG43134;AAH01559;AAH09603;AAL50978;AAN04051;AAV38307;AAV38308;ACE86738;ACE87424;ADZ15845;BAA28692;BAF82902;BAF98761;BAG62043;BAG62400;BAH14686;CAG32982;CAI46217;EAW63576;NP_004322;O60238;XP_005273674 Hs.131226 1658784;1666960;1699560;1723225;1739193;1770524;1771798 D8S1556;D8S1934;D8S2073;RH103380;RH122296;RH36518;STS-Z40756 BNIP3a;NIP3L;NIX BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like;BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A;BCL2/adenovirus E1B 19-kd protein-interacting protein 3a;NIP3-like protein X;OTTHUMP00000125280;OTTHUMP00000225446;OTTHUMP00000225447;OTTHUMP00000225448;OTTHUMP00000225568;adenovirus E1B19k-binding protein B5 APPROVED protein-coding ENSG00000104765 HGNC:1085 07288 605368 REVIEWED 1350913 BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. This protein contains a BH3 domain and a transmembrane domain, which have been associated with pro-apoptotic function. The dimeric mitochondrial protein encoded by this gene is known to induce apoptosis, even in the presence of BCL2. [provided by RefSeq, Mar 2011] 10 10 10 q26.3 127425370 127439605 - 133781204 133795435 - 131967700 131981931 - 634550;1580863;2314028;2314029;5128796;6480464;6484113;7483575 14648660;14972662;19641503;20157446;7954800 10381623;10625696;10891486;12215374;12477932;12690108;12879018;15164054;15289340;15328198;15489334;15560738;15709167;15856026;16002567;16169070;16189514;16217754;16219518;16357180;16765911;16799636;16803523;17207965;17255267;17360363;17394490;17576382;17576813;17600828;17638546;17638890;17729412;17786027;17928295;18029348;18059169;18092960;18163427;18309324;18359286;18371312;18476629;18551130;18728663;18838203;19060904;19088195;19273585;19339613;19505343;19535684;19593445;19641497;19668230;19690192;19799812;19956881;20026130;20082478;20100468;20201926;20368736;20436456;20437871;20637734;20801175;20855536;20963496;20973794;20978322;21139048;21152877;21210091;21293853;21318419;21409489;21573703;21711117;21792176;21906983;21911457;21963094;21987236;21988832;22173550;22292033;22302006;22455137;22458929;22505714;22639046;23000965;23142642;23160801;23209295;23216071;23291726;23364257;23504944;23538299;23579274;23667095;23688833;23728617;23851496;23979608;24211581;24250222;24402046;7478990;8125298;9396766;9575197;9867803;9973195 664 B4DHJ7;Q12983 ABBA01006172;AF002697;AK222626;AK295136;AL162274;AL732395;AMYH02024059;AY886764;BC009342;BC021989;BC067818;BC080643;CH471066;CQ975900;NM_004052;U15174 AAC00022;AAC16738;AAH21989;AAH67818;AAH80643;AAW62256;ADQ33204;BAD96346;BAG58159;CAI45349;EAW49143;NP_004043;Q12983 Hs.144873 1645003;1683401;1712080;1795446;2123419;2142467;5015881;5037552 BNIP3_1789;D8S2279;G54089;GDB:335751;RH70571;RH71202;RH80015;STS-R06072 NIP3 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3;OTTHUMP00000020752 APPROVED protein-coding HGNC:1084 04482 603293 REVIEWED 1319009 BNIP2 BCL2/adenovirus E1B 19kDa interacting protein 2 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. [provided by RefSeq, Mar 2011] 15 15 15 q22.2 36843018 36869598 - 59951345 59981728 - 59659146 59689529 - 634550;1580863;6480464;7240533 20626350;7954800 10381623;10551883;10799524;10954711;11741952;11744098;12477932;12901880;12944407;14702039;15489334;15652341;15923648;16189514;17961507;20677014;20704564;20855536;21130087;21139048;21890473;22623531;22863883;23000965;24816145;7478990 663 H7C096;H7C142;J3KN59;Q12982 ABBA01038956;ABBA01038957;AC092755;AK125533;AK299628;AK308237;AMYH02030549;AY268590;BC002461;BX378770;CH471082;DC425485;NG_029765;NM_004330;U15173;XM_005254607 AAC00021;AAH02461;AAP03429;ABM82882;ABM86068;BAG61556;EAW77575;EAW77576;NP_004321;Q12982;XP_005254664 Hs.592515;Hs.646490 1683162;1721427;1736498;1783248;1789805;2106963;2124801;2137189;2187032;5107615 BNIP2_7248;D15S1347;D15S703E;G59565;RH65383;SHGC-154946;SHGC-57103;STS-U15173;WI-7305;csnpbnip2-pcr1-1 BNIP-2;NIP2 BCL2/adenovirus E1B 19 kDa protein-interacting protein 2;OTTHUMP00000163602 APPROVED protein-coding ENSG00000140299 HGNC:1083 04481 603292 REVIEWED 8548001 BNIP3P13 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 13 19 19 20163537 20174134 + 20052054 20063325 + 101060192 ABBA01051347;AC006539;AMYH02035774 pseudo HGNC:49693 MODEL 8548117 BNIP3P10 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 10 19 19 19 19886922 19887481 - 19981533 19982092 - 19870724 19871283 - 100421695 ABBA01051343;AC011477;AMYH02035769;NG_024159 pseudo HGNC:49690 INFERRED 5128958 BNIP3P2 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 2 22 22 16627944 16628475 - 15349488 15350019 + 100421754 AP000540;NG_027406 pseudo HGNC:39655 INFERRED 8548090 BNIP3P17 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 17 19 19 19 20238819 20239402 + 20332687 20333270 + 20221878 20222461 + 100421704 ABBA01051351;AC011447;AMYH02035775;NG_024230 pseudo HGNC:49697 INFERRED 732440 BNIP1 BCL2/adenovirus E1B 19kDa interacting protein 1 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011] 5 5 5 q33-q34 168604859 168624796 + 172571445 172591390 + 173144442 173164387 + 2314029;634759;6480464 12714334;19641503 10217402;12477932;1332047;15272311;15489334;17207965;19064571;21139048;21832049;21906983;21931693;22020994;22306654;22639046;23000965;23896122;7478990;7954800 662 H0YBK7;Q12981 ABBA01044028;AC008378;AF083956;AF083957;AF083958;AMYH02012771;AMYH02012772;AU311051;AY216799;AY246554;BC010959;BP384034;CH471062;NM_001205;NM_013978;NM_013979;NM_013980;U15172 AAC00020;AAC33124;AAC33125;AAC33126;AAH10959;AAO61090;AAO91805;ADQ32671;EAW61405;EAW61406;EAW61407;EAW61408;EAW61409;EAW61410;EAW61411;EAW61412;EAW61413;NP_001196;NP_053581;NP_053582;NP_053583;Q12981 Hs.145726 1652136;1795444;2183520 BNIP1_1465;D5S2469;SHGC-10682 NIP1;SEC20;TRG-8 BCL2/adenovirus E1B 19 kDa protein-interacting protein 1;OTTHUMP00000161077;OTTHUMP00000161078;OTTHUMP00000161079;OTTHUMP00000223580;transformation-related gene 8 protein;vesicle transport protein SEC20 APPROVED protein-coding ENSG00000113734 HGNC:1082 04480 603291 REVIEWED 8548369 BNIP3P12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 12 19 19 19 19959899 20025432 + 20054512 20120046 + 19943703 20009237 + 100421703 ABBA01051344;ABBA01051345;AC006539;AC007204;AMYH02035771;AMYH02035772;AMYH02035773;NG_024228 pseudo HGNC:49692 INFERRED 8548394 BNIP3P20 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 20 19 19 19 20368442 20369011 + 20462317 20462886 + 20351508 20352077 + 100421705 ABBA01051351;AC078899;AMYH02035778;NG_024231 pseudo HGNC:49700 INFERRED 8548316 BNIP3P14 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 14 19 19 19 20102834 20103395 - 20197825 20198385 - 20087016 20087576 - 100421696 ABBA01051348;AC011447;AMYH02035774;NG_024162 pseudo HGNC:49694 INFERRED 8548314 BNIP3P21 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 21 19 19 19 p12 20399308 20399880 - 20493215 20493787 - 20382406 20382978 - 100131306 ABBA01051352;AC078899;AMYH02035778;NG_021744 pseudo HGNC:49701 INFERRED 8548317 BNIP3P22 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 22 19 19 19 20433397 20433949 + 20599320 20599872 + 20416514 20417066 + 100421706 ABBA01051352;AC008554;AMYH02035786;NG_024232 pseudo HGNC:49702 INFERRED 8548292 BNIP3P23 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 23 19 19 19 20460093 20460627 - 20626019 20626553 - 20443213 20443747 - 100421697 ABBA01051353;AC008554;AMYH02035787;NG_024163 pseudo HGNC:49703 INFERRED 8548405 BNIP3P25 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 25 19 19 19 21335879 21336406 + 21500963 21501490 + 21318161 21318688 + 100421707 ABBA01051371;AC022432;AMYH02035803;NG_024243 pseudo HGNC:49705 INFERRED 8548370 BNIP3P34 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 34 19 19 19 p12 22790680 22791248 + 22956655 22957223 + 22773853 22774421 + 100128849 ABBA01051416;AC008626;AMYH02035831;NG_021761 pseudo HGNC:49714 INFERRED 8548404 BNIP3P24 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 24 19 19 19 20801846 20802399 - 20967405 20967958 - 20784599 20785152 - 100421698 ABBA01051360;AC010329;AMYH02035795;NG_024164 pseudo HGNC:49704 INFERRED 8548000 BNIP3P29 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 29 19 19 19 22080881 22081451 - 22248630 22249200 - 22065828 22066398 - 100421700 ABBA01051401;AC011482;AMYH02035819;NG_024169 pseudo HGNC:49709 INFERRED 5128993 BNIP3P4 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 4 9 9 q21.11 69823284 69823839 - 64810866 64811421 - 100289028 ABBA01148606;AL359955;NG_021623 pseudo HGNC:39657 INFERRED 8548368 BNIP3P26 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 26 19 19 19 21538877 21539427 - 21704148 21704698 - 21521346 21521896 - 100421699 ABBA01051378;AC010615;AMYH02035805;NG_024167 pseudo HGNC:49706 INFERRED 5128959 BNIP3P3 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 3 18 18 15247455 15247983 - 15247456 15247984 - 100421736 AMYH02034362;AP005901;NG_026278 pseudo HGNC:39656 INFERRED 8548456 BNIP3P27 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 27 19 19 19 21841704 21842219 + 22009564 22010081 + 21826762 21827279 + 100421708 ABBA01051395;AC010617;AMYH02035812;NG_024245 pseudo HGNC:49707 INFERRED 8548315 BNIP3P41 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 41 4 4 49413 51415 - 49549 51521 - 101059988 ABBA01019322;AC253576;AMYH02008544 pseudo HGNC:49721 MODEL 8548119 BNIP3P40 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 40 19 19 24281229 24281782 - 24098427 24098980 - 100421702 ABBA01051454;AC092279;AMYH02035852;NG_024173 pseudo HGNC:49720 INFERRED 8548420 BNIP3P39 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 39 19 19 23981730 23982298 - 23798928 23799496 - 100421701 ABBA01051445;AC139769;AMYH02035846;NG_024172 pseudo HGNC:49719 INFERRED 5128995 BNIP3P6 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 6 14 14 14 q11.2 1316 1847 + 19195192 19195723 + 18418715 18419246 + 16311020 100129777 AMYH02037971;CR383658;NG_022850 pseudo HGNC:39659 INFERRED 5128962 BNIP3P5 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 5 15 15 15 19373573 19374288 + 42605882 42606585 + 42313684 42314387 + 100421724 ABBA01038379;AC022468;AMYH02030282;NG_025378 pseudo HGNC:39658 INFERRED 7321403 BNIP3P7 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 7 13 13 19061462 19066600 + 18487322 18492460 + 101927265 AL138715;AMYH02027600 pseudo HGNC:49101 MODEL 8179422 BNIP3P8 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 8 19 19 19 23397509 23398065 + 23563119 23563675 + 23380317 23380873 + 100421710 ABBA01051432;AC022409;AMYH02035839;NG_024253 pseudo HGNC:49675 INFERRED 8548158 BNIP3P38 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 38 19 19 19 23250682 23251215 + 23419120 23419653 + 23236318 23236851 + 100421709 ABBA01051428;AC092329;AMYH02035835;NG_024252 pseudo HGNC:49718 INFERRED 1344806 BOD1L1 biorientation of chromosomes in cell division 1-like 1 ENCODES a protein that exhibits DNA binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; INTERACTS WITH clorgyline; copper(2+) sulfate; ethyl methanesulfonate 4 4 4 p16.1 14036574 14095541 - 13570362 13629334 - 13568738 13627710 - 6480464;8554872 10718198;12477932;14702039;15489334;17081983;17370265;18654987;20379614;20972266;21139048;21963094;22108332;23000965;23667531;24816145 259282 F8WDD0;H0Y9Y2;Q8NFC6 AB037748;ABBA01032544;ABBA01032545;AC006445;AF528529;AK025361;AK025965;AK090534;AK122806;AK298130;AL137350;AL137652;AMYH02008784;AMYH02008785;BC016987;BC043603;BC065546;BC087835;BX648206;CH471069;NM_148894;XM_005248150;XM_005248151;XM_006713958 AAH16987;AAH65546;AAH87835;AAI72451;AAM94279;BAA92565;BAB15299;BAG60410;CAB70705;EAW92716;NP_683692;Q8NFC6;XP_005248207;XP_005248208;XP_006714021 Hs.744935 1341187;1647368;1664331;1696782;1739055;2124505;2132152;2132154;2144154;2175011 D4S1364;D4S2311;D4S259;D4S2669;D4S2702;D4S3194;RH16627;SHGC-36204;SHGC-51764;SHGC-82934 BOD1L;FAM44A;FLJ33215;KIAA1327 OTTHUMP00000115820;biorientation of chromosomes in cell division protein 1-like;biorientation of chromosomes in cell division protein 1-like 1;family with sequence similarity 44, member A APPROVED protein-coding ENSG00000038219 HGNC:31792 08156 VALIDATED 1345757 BOD1L2 biorientation of chromosomes in cell division 1-like 2 INTERACTS WITH copper(2+) sulfate; 2,2',5,5'-tetrachlorobiphenyl (ortholog); benzo[a]pyrene (ortholog) 18 18 18 q21.31 51531573 51534919 + 54814293 54817639 + 57147062 57150408 + 737633;6480464 12477932 15489334;17938248 284257 B4DX39;Q8IYS8 ABBA01056127;AC100775;AK127964;AK301799;AMYH02034784;BC021740;BC035018;NM_001257964 BAG54606;BAG63251;NP_001244893;Q8IYS8 Hs.127882 1699774;2169609 D5S2321;RH103493 BOD1P;FAM44C;MGC33608 biorientation of chromosomes in cell division 1 pseudogene;biorientation of chromosomes in cell division protein 1-like 2;family with sequence similarity 44, member C;putative biorientation of chromosomes in cell division protein 1 pseudogene;putative biorientation of chromosomes in cell division protein 1-like 2;putative protein FAM44C APPROVED protein-coding ENSG00000228075 HGNC:28505 VALIDATED 2946885 BOK-AS1 BOK antisense RNA 1 2 2 2 q37.3 236152251 236166494 - 242483799 242498558 - 241544384 241559143 - 19287972;23535732 100379249 ABBA01006052;ABBA01006053;ABBA01006054;AC110299;AMYH02006114;AMYH02006115;FJ185168;NR_033346 Hs.621128 BOK-AS;NCRNA00151 BOKAS;NAToB APPROVED ncrna HGNC:35125 PROVISIONAL 1319839 BNIPL BCL2/adenovirus E1B 19kD interacting protein like The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 q21.3 124118004 124135383 + 151009029 151020076 + 151036553 151047600 + 6480464 11741952;12477932;12681488;12901880;14702039;15112343;15489334;16143817;16344560;16710414;17562024;20383146;20800603;21988832;9973195 149428 A2A492;F8W685;Q7Z465 ABBA01049367;ABBA01049368;AF193056;AK092595;AL590133;AMYH02001869;AMYH02001870;AY033000;AY078983;AY078984;BC027868;BC074779;BC074780;CD687603;CH471121;CU451236;DB202257;NG_029720;NM_001159642;NM_138278;XM_005244924 AAG22484;AAH27868;AAH74779;AAH74780;AAK54348;AAL85483;AAL85484;EAW53483;EAW53484;NP_001153114;NP_612122;Q7Z465;XP_005244981 Hs.591473 1674806;1697834;1701632;1735380;1770794;2170512;2187329;5037552 A004A12;D1S1855E;D1S2426;D8S2279;RH102442;RH104459;SHGC-57518;SHGC-57939 BNIP-S;BNIPL-1;BNIPL-2;BNIPL1;BNIPL2;BNIPS;PP753 BNIP-2 similar;OTTHUMP00000033115;OTTHUMP00000033116;OTTHUMP00000192926;bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein APPROVED protein-coding ENSG00000163141 HGNC:16976 16557 611275 REVIEWED 1605311 BOC BOC cell adhesion associated, oncogene regulated The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014] 3 3 3 q13.2 111339962 111414896 + 112929850 113006306 + 113211482 113287459 + 5510025;5490966;6480464;6484113;8554872 18772397;20844013 11782431;12477932;12634428;12720294;12975309;14702039;15520228;15923648;16169070;16647304;20053908;20306291;20519495;23259602;23535732;8889548 91653 C9J2L7;C9J7V2;C9J9M5;C9JZ38;H7C4U8;H7C5J2;Q96DN7;Q9BWV1 AA716090;ABBA01061654;ABBA01061655;AC026329;AK056359;AK074556;AK090455;AK309055;AL133599;AMYH02007446;AY027658;AY358328;BC032071;BC034614;BC075829;BC136390;BM673254;BX647184;CH471052;DA247804;DA721979;DB287293;DB349011;NM_001301861;NM_001301867;NM_033254;XM_005247891;XM_005247892;XM_005247893;XM_005247894;XM_005247896;XM_005247897;XM_005247898 AAH34614;AAI36391;AAK14795;AAQ88694;ADZ15974;BAB71163;BAC03436;BAC11057;EAW79643;EAW79644;EAW79645;EAW79646;NP_001288790;NP_001288796;NP_150279;Q9BWV1;XP_005247948;XP_005247949;XP_005247950;XP_005247951;XP_005247953;XP_005247954;XP_005247955 Hs.591318 1681556;1689769;2111025;2157338 D3S1493E;RH126917;RH93384;SHGC-57979 CDON2 Boc homolog;OTTHUMP00000214765;OTTHUMP00000214766;brother of CDO;brother of CDON;cell adhesion associated, oncogene regulated 2 APPROVED protein-coding ENSG00000144857 HGNC:17173 608708 VALIDATED 1348370 BOD1 biorientation of chromosomes in cell division 1 INVOLVED IN mitotic nuclear division (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); kinetochore (inferred); INTERACTS WITH afimoxifene; cyclosporin A; valproic acid 5 5 5 q35.2 169066406 169075924 - 173034148 173043706 - 173607145 173616703 - 737633;6480464 12477932 15489334;16344560;17938248;20881960;21832049;21890473;21906983;21963094;23000965;23535732;24157919 91272 C9J8U9;C9JNZ5;H7C5I4;Q96IK1 ABBA01044019;AC010339;AK301982;AMYH02012780;AY303777;BC003114;BC007436;BQ881883;CH471062;DA506589;DA953541;NM_001159651;NM_138369;XM_005266008 AAH03114;AAH07436;AAP76182;BAG63390;EAW61396;NP_001153123;NP_612378;Q96IK1;XP_005266065 Hs.425091 1848775;2147745;2169609 A002Q30;D5S2321;WI-12001 FAM44B OTTHUMP00000161101;OTTHUMP00000213248;biorientation defective 1;biorientation defective protein 1;biorientation of chromosomes in cell division protein 1;family with sequence similarity 44, member B protein-coding ENSG00000145919 HGNC:25114 13309 VALIDATED 1605757 BOLA2 bolA family member 2 This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 3732 5103 + 29452601 29466285 - 29453593 29454964 - 6480464 12477932;12665801;14718656;15489334;17620599;18548201;18781797;19738201;21145461;21565611;21906983;22505724;22623428;23084401;23398456;23402259 552900 Q9H3K6 AC133555;AC245044;AF060511;AK027255;AK295153;BC022832;BC062756;BC104642;BC130401;BC130403;BC144688;BG032591;NM_001031827 AAG43129;AAH22832;AAI30402;AAI30404;AAI44689;BAG58169;NP_001026997 Hs.444600;Hs.655267;Hs.745100 5017266;5022450;5112199;5113701 D10S275;L18506;RH102308;RH76583 BOLA2A;My016 BolA-like protein 2;BolA-like protein 2 member A;bolA homolog 2;bolA-like 2 APPROVED protein-coding ENSG00000183336 HGNC:29488 613182 REVIEWED 737138 BOK BCL2-related ovarian killer The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011] 2 2 2 q37.3 236166128 236181243 + 242498146 242513553 + 241558731 241574138 + 70678;1580863;2313975;6480464;1624238 15964663;17322918;9356461 10579309;10811653;11034351;12477932;15102863;15146197;15342556;15489334;15775999;15868100;16302269;16772296;19095301;19287972;19942931;20171287;20673843;21900206;21906983;22623531;23535732;23884412;24113155;24806027;9535847 666 Q9UL32;Q9UMX3 ABBA01006054;ABBA01006055;ABBA01006056;AC110299;AC133528;AF174487;AMYH02006115;BC006203;BC017214;BG118500;BI550157;BP332256;BT007272;BU855574;BX372066;BX395656;BX460019;CD368092;CH471063;CN279174;CN279175;H17007;NG_029488;NM_032515;XM_005247037;XM_005247039 AAD51719;AAP35936;AAY14684;AAY14917;ABM84167;ABM87570;EAW71268;EAW71269;EAW71270;EAW71271;EAW71272;EAW71273;EAW71274;NP_115904;Q9UMX3;XP_005247094;XP_005247096 Hs.293753;Hs.734656 1682079;1690900;1740179;2126819;2153849 D2S2142;G42020;RH78529;RH80183;RH91690 BCL2L9;BOKL;MGC4631;bcl2-L-9;hBOK OTTHUMP00000164606;bcl-2-like protein 9;bcl-2-related ovarian killer protein APPROVED protein-coding ENSG00000176720 HGNC:1087 05657 605404 REVIEWED 1606296 BOLA1 bolA family member 1 FOUND IN extracellular region (inferred); mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; atrazine 1 1 1 q21 122987125 122988318 + 149871110 149872348 + 149899557 149900795 + 6480464 10810093;12107410;12477932;14718656;15489334;16710414;16964243;17207965;17353931;18029348;18548201;20877624;21832049;22746225 51027 Q9Y3E2 ABBA01049314;AC239868;AF151901;AK313014;AL591493;BC002771;BC063405;CA389141;CH471121;CS072310;NM_016074;XM_005245233;XM_006711348 AAD34138;AAH63405;ADQ33110;BAG35849;CAI12571;CAI93448;EAW53599;EAW53600;EAW53601;EAW53602;NP_057158;Q9Y3E2;XP_005245290;XP_006711411 Hs.13880 1660592;1853404;2133185;2183505 A003N45;RH18368;STS-Z40409;WI-16272 CGI-143;MGC75015;RP11-196G18.18 OTTHUMP00000013910;OTTHUMP00000013911;bolA homolog 1;bolA-like 1;bolA-like protein 1;hBolA APPROVED protein-coding ENSG00000178096 HGNC:24263 13036 613181 VALIDATED 5490477 BOLA3-AS1 BOLA3 antisense RNA 1 (head to head) INTERACTS WITH valproic acid 2 2 2 74206393 74208415 + 74375108 74379516 + 74147981 74152389 + 6480464 12477932;14702039;16344560 100507171 ABBA01075598;AC073263;AK123453;AMYH02004088;BC007916;BC008757;BC015635;BC030102;DA356576;HG494205;HG494206;NG_031910;NR_045634;NR_045636;NR_045637 Hs.503348 2170420 WI-21646 AC073263.4;FLJ41459 APPROVED ncrna ENSG00000225439 HGNC:42922 VALIDATED 1605447 BOLA2B bolA family member 2B This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. This duplicated region contains a complete copy of the short splice variant of the BOLA2 gene and a partial copy of the long splice variant of the BOLA2 gene. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 3732 5103 + 30204256 30205627 - 30192935 30194306 - 6480464 12477932;12665801;14718656;15489334;17620599;21145461;22505724;22623428;22939629 654483 H3BPT9;H3BV85;Q9H3K6 ABBA01013099;AC106782;AC244227;BC137532;BC137534;NM_001039182 AAI37533;AAI37535;AAI48565;AAI53145;NP_001034271;Q9H3K6 Hs.647333 BOLA2 BolA-like protein 2 member B;bolA homolog 2B;bolA-like 2B;bolA-like protein 2;bolA-like protein 2B APPROVED protein-coding ENSG00000169627 HGNC:32479 REVIEWED 1347316 BPESC1 blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1 3 3 3 q23 137249298 137266864 + 138823027 138844009 + 139104185 139125167 + 6480464;8554872 10995571;12477932;15489334 60467 Q9GZL8 ABBA01059065;ABBA01059066;AC069525;AF196864;AF196865;AMYH02007785;AMYH02007786;AMYH02007787;BC119686;BC119687;CH471052;HG496091;KF459860;KF459861;KF459862;KF459863;KF459865;NR_026783 AAG23726;AAG23727;EAW79046;Q9GZL8 Hs.512673 1696522 SHGC-83243 NCRNA00187 ncrna ENSG00000232416 HGNC:13228 16559 VALIDATED 1606380 BOLA3 bolA family member 3 This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011] 2 2 2 p13.1 74193755 74206266 - 74362528 74375039 - 74135401 74147912 - 6480464;8699517;8554872;7240710 12477932;14718656;15815621;18548201;20379614;21944046;22562699;24334290;24816145 388962 Q53S33;Q8N338 ABBA01075598;AC073263;AI652095;AMYH02004088;BC017744;BC028282;BC042036;BC046531;BU600037;CH471053;DQ225187;NG_031910;NM_001035505;NM_212552 AAH28282;AAI48672;AAI53209;AAX93059;ABB04094;EAW99699;EAW99700;NP_001030582;NP_997717;Q53S33 Hs.61472 2121215;2170420 SGC32756;WI-21646 MMDS2 OTTHUMP00000202551;OTTHUMP00000202552;bolA homolog 3;bolA-like 3;bolA-like protein 3 APPROVED protein-coding ENSG00000163170 HGNC:24415 14209 613183;614299 REVIEWED 1321585 BOP1 block of proliferation 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); regulation of cell cycle; FOUND IN PeBoW complex; ribonucleoprotein complex; INTERACTS WITH 5-fluorouracil; afimoxifene; all-trans-retinoic acid 8 8 8 q24.3 141660871 141689893 - 145486056 145515120 - 144262100 144291438 - 1580863;6480464 11237751;11390653;11522832;11790298;12048210;12429849;12477932;15225545;15489334;15635413;16043514;16565220;16738141;16804918;16964243;17081983;17353269;17353931;18809582;19615732;21139048;21145461;21252943;21386990;21520196;21890473;21900206;21906983;21963094;22178446;22586326;22863883;22939629;23166591;24250222;24457600;24654937;24816145;8590280;9829985 23246 Q14137 AB060694;ABBA01005217;ABBA01005218;AC110280;AC145291;AC231662;AC233992;AK024840;AK290677;AK293719;AK310015;AK315612;AMYH02018975;AMYH02018976;AMYH02018998;BC001086;BC005160;BC007274;BC013787;BC013980;BC017674;BC073813;BC098446;BE280443;BQ961780;CH471162;D50914;NM_015201 AAH01086;AAH05160;AAH07274;AAH13787;AAH13980;AAH17674;AAH73813;AAH98446;ABM87814;ABW03699;BAA09473;BAB70666;BAF83366;BAG37981;BAG57150;EAW82133;NP_056016;Q14137 Hs.645279 2148557;5095892 RH25347;WI-17683 KIAA0124 BOP1 {ECO:0000255|HAMAP-Rule:MF_03027};OTTHUMP00000228465;block of proliferation 1 protein;block of proliferation 1 protein {ECO:0000255|HAMAP-Rule:MF_03027};block of proliferation 1 pseudogene;ribosome biogenesis protein BOP1;ribosome biogenesis protein BOP1 {ECO:0000255|HAMAP-Rule:MF_03027} protein-coding ENSG00000261236 HGNC:15519 16558 610596 VALIDATED 1352689 BOLL boule-like RNA-binding protein This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q33 192347376 192406705 - 198591603 198651036 - 197726879 197786312 - 1580863;6480464 11390979;12477932;12499397;12511597;14702039;15066460;15070965;15379971;15489334;15705409;16001084;17114206;17207965;18997786;19342699;19417033;19865085;21474125;24086306;8657280 66037 F2Z2G3;F8WD91;Q8N9W6 ABBA01062490;AC011997;AF272858;AI424966;AK058099;AK093453;AK097795;AK098824;AK302817;AM295005;AMYH02005523;AMYH02005524;BC033674;CH471063;HC044489;NM_001284358;NM_001284361;NM_001284362;NM_033030;NM_197970;XM_006712715;XM_006712716;XM_006712717 AAH33674;AAK58689;AAX93045;ADQ32687;BAB71664;BAC04171;BAG64016;CAL25726;CBH30574;EAW70171;EAW70172;EAW70173;NP_001271287;NP_001271290;NP_001271291;NP_149019;NP_932074;Q8N9W6;XP_006712778;XP_006712779;XP_006712780 Hs.169797 1691260;1794698 PMC34683P2;RH98575 BOULE;OTTHUMP00000163625;OTTHUMP00000163626;OTTHUMP00000163627;OTTHUMP00000205805;bol, boule-like;protein boule-like APPROVED protein-coding ENSG00000152430 HGNC:14273 606165 VALIDATED 1316844 BPHL biphenyl hydrolase-like (serine hydrolase) This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009] 6 6 6 p25 4347797 4382302 + 3118926 3153833 + 3118692 3153198 + 6480464;8554872 12477932;12732646;14574404;15832508;16028355;16316342;18163890;18256025;20237496;20877624;21890473;2393862;24654937;24816145;7759552;8889548;9721218 670 B4DML3;F2Z2Q1;H7C0M3;Q49AI2;Q86WA6 ABBA01048621;AJ001980;AJ617684;AK297518;AK314909;AL031963;AL832502;AMYH02012994;BC037778;BC106901;BM977067;CH471087;DC352501;NM_004332;NR_026648;NR_026649;NR_026650;X57653;X81372 AAH37778;AAI06902;BAG37421;BAG59925;CAA40859;CAA57137;CAE85120;EAW55119;EAW55120;EAW55121;EAW55122;EAW55123;NP_004323;Q86WA6 Hs.10136 1650686;1655909;2145691;2177581;2219038;5014063;5016781 BPHL__4461;D15S1390;D6S1890;D6S2134;RH46711;SHGC-35542;SHGC-67307 BPH-RP;MGC125930;MGC41865 MCNAA;OTTHUMP00000015958;OTTHUMP00000211210;VACVASE;biphenyl hydrolase-like protein;biphenyl hydrolase-related protein;breast epithelial mucin-associated antigen;valacyclovir hydrolase;valacyclovirase APPROVED protein-coding ENSG00000137274 HGNC:1094 04403 603156 REVIEWED 1605438 BPGM 2,3-bisphosphoglycerate mutase 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009] 7 7 7 q33 129068953 129101988 + 134331531 134364568 + 134646779 134679816 + 6480464;6907045;7240710;8699517;8554872 12477932;12690205;1320611;1387804;14702039;152321;15258155;15489334;16344560;17052986;17207965;18624398;21045285;21890473;21988832;22939629;23000965;24816145;2542247;2824335;2844822;3023066;3036106;6313356;8440681;8889548;9308888;9832630 669 C9JH23;P07738 AB209044;ABBA01001110;AC009276;AK097778;AK315439;AMYH02016809;BC017050;BM090687;BU608668;BU664387;BX473275;CB994648;CF242942;CH236950;CH471070;DA701935;DB047822;DB049554;HH770041;HH770403;M23068;NG_012921;NM_001293085;NM_001724;NM_199186;X04327;XM_006716096 AAA51840;AAH17050;ADQ31825;BAD92281;BAG37827;BAG53525;CAA27858;CBX85738;CBX85919;EAL24067;EAW83821;EAW83822;EAW83823;EAW83824;NP_001280014;NP_001715;NP_954655;P07738;XP_006716159 Hs.198365 1647068;1711448;1776002;1786220;1852853;1858387;2140183;2152912;2172630 BPGM;D7S2792;D7S2829;D7S697;RH16501;SHGC-107197;SHGC-34608;STS-X04327;WI-17404 DPGM 2,3-bisphosphoglycerate mutase, erythrocyte;2,3-bisphosphoglycerate synthase;2,3-diphosphoglycerate mutase;BPG-dependent PGAM;OTTHUMP00000207868;OTTHUMP00000207869;OTTHUMP00000207870;bisphosphoglycerate mutase;erythrocyte 2,3-bisphosphoglycerate mutase APPROVED protein-coding ENSG00000172331 HGNC:1093 01961 222800;613896 REVIEWED 1605625 BORA bora, aurora kinase A activator BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008] 13 13 13 q22.1 54200530 54228790 + 73301981 73330328 + 72727749 72756198 + 6480464 11935316;12477932;14702039;15057823;15489334;16169070;16890155;18378770;18521620;18566290;18615013;19487276;19596235;19615732;20360068;20923822;22990118;23592782;23970419;24067368;24338364 79866 B5LMG6;H3BLY2;Q6PGQ7 ABBA01050335;ABBA01050336;AK026277;AK291496;AK298608;AK300758;AL138695;AMYH02028251;BC007119;BC025367;BC044213;BC056876;BM923278;BX648605;CF529405;CH471093;EU834129;NM_001286746;NM_001286747;NM_024808;XM_006719868 AAH07119;AAH25367;AAH44213;AAH56876;ACE86935;ACE86991;ACE87006;ACE87621;ACE87680;ACE87694;ACH72049;BAB15426;BAF84185;BAG60792;BAG62424;EAW80514;EAW80515;NP_001273675;NP_001273676;NP_079084;Q6PGQ7;XP_006719931 Hs.643464 1662198;1677280;1738439;1739623;2126764;2169355;2176579;2180629 1730;D13S1090E;D13S1212E;RH15742;RH67956;RH92143;SHGC-34349;WI-20990 C13orf34;FLJ22624;RP11-342J4.2 OTTHUMP00000018495;aurora borealis;hsBora APPROVED protein-coding ENSG00000136122 HGNC:24724 13389 610510 VALIDATED 1351299 BPIFA2 BPI fold containing family A, member 2 ENCODES a protein that exhibits lipopolysaccharide binding; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region; extracellular vesicular exosome; INTERACTS WITH 3-methylcholanthrene; benzo[a]pyrene; calcitriol 20 20 20 q11.21 28509850 28523113 + 31749660 31769223 + 33161854 33181417 + 6480464;8554872 11780052;11971875;12477932;12975309;15489334;16740002;17207965;18221458;19199708;19499239;21787333;21833535 140683 Q6ZNV9;Q96DR5 ABBA01019238;AF432917;AK130543;AK130550;AK291854;AL121901;AMYH02036945;AX061621;AY359055;BC065726;CH471077;NM_080574;XM_005260281 AAH65726;AAL28113;AAQ89414;ADQ32051;BAC85378;BAF84543;CAC24982;EAW76335;NP_542141;Q96DR5;XP_005260338 Hs.125960 5017170;5020948;5022578;5109281 D1S1423;D1S1425;G35510;L29953 C20orf70;PSP;SPLUNC2;bA49G10.1 BPI fold-containing family A member 2;OTTHUMP00000030628;OTTHUMP00000164442;parotid secretory protein;short palate, lung and nasal epithelium carcinoma associated 2;short palate, lung and nasal epithelium carcinoma-associated protein 2 APPROVED protein-coding ENSG00000131050 HGNC:16203 12781 VALIDATED 736029 BPIFA1 BPI fold containing family A, member 1 This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014] 20 20 20 q11.2 28577699 28585012 + 31823802 31831115 + 33235996 33243309 + 1580863;6480464 11018263;11251963;11425234;11780052;11788998;11821380;11971875;12409287;12477932;12753706;12874788;12920053;12975309;15158712;15313462;15489334;16195890;16196087;16364440;16713569;17207965;17785110;17988392;18049866;18204429;18245229;18513434;18646695;19119597;19336370;19541605;19650845;20161732;20360068;20519934;20855242;20949060;21200090;21632717;21787333;21787339;21787346;21805676;22213098;22676062;22889411;23132494;23371910;23472073;23499554;23644997;23721177;23741370;23759037;23810363;24043776;24124190;24342548;24850914 51297 A6XMV5;Q9NP55 AB024937;ABBA01019237;AF158745;AF172993;AF214562;AF417256;AF417257;AF421369;AF439448;AK292778;AL121901;AMYH02036945;AY359020;BC012549;CH471077;DQ846869;NM_001243193;NM_016583;NM_130852;XR_430298 AAF70860;AAF82622;AAG13653;AAH12549;AAL87636;AAO12198;AAO12199;AAO12200;AAQ89379;ABI63356;ADQ31860;BAA93633;BAF85467;EAW76327;EAW76328;EAW76329;NP_001230122;NP_057667;NP_570913;Q9NP55 Hs.211092 1341027;1759185;5095944;5124755 D20S195;GDB:313139;RH99153;SHGC-151139 LPLUNC3;LUNX;NASG;PLUNC;SPLUNC1;SPURT;bA49G10.5 BPI fold-containing family A member 1;OTTHUMP00000030625;OTTHUMP00000030626;OTTHUMP00000030627;ligand-binding protein RYA3;lung-specific protein X;nasopharyngeal carcinoma-related protein;palate lung and nasal epithelium clone protein;palate, lung and nasal epithelium associated;palate, lung and nasal epithelium carcinoma associated;secretory protein in upper respiratory tracts;short PLUNC1;tracheal epithelium enriched protein;tracheal epithelium-enriched protein;von Ebner protein Hl APPROVED protein-coding ENSG00000198183 HGNC:15749 07594 607412 REVIEWED 1347929 BPIFA3 BPI fold containing family A, member 3 ENCODES a protein that exhibits lipid binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 20 20 20 q11.21 28559029 28569457 + 31805130 31815612 + 33217310 33227806 + 8554872 11780052;11971875;12477932;14739326;21787333 128861 Q9BQP9 ABBA01019237;AI073399;AI638623;AL121901;AMYH02036945;AW082233;BC041904;BC066354;BF966133;CH471077;DB446335;HC006830;HC044549;HY050111;NM_001042439;NM_178466;XR_244132 AAH66354;CBH19221;CBH30604;EAW76330;EAW76331;EAW76332;EAW76333;NP_001035904;NP_848561;Q9BQP9 Hs.360989 C20orf71;MGC44525;SPLUNC3 BPI fold-containing family A member 3;OTTHUMP00000030630;OTTHUMP00000030631;short long palate, lung and nasal epithelium carcinoma associated 3;short palate, lung and nasal epithelium carcinoma-associated protein 3 APPROVED protein-coding ENSG00000131059 HGNC:16204 12782 VALIDATED 1322016 BPIFB2 BPI fold containing family B, member 2 This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 28349284 28365392 + 31595384 31611515 + 33007578 33023709 + 1580863;6480464;8554872 11018263;11780052;11971875;12185532;12477932;12837268;12975309;14739326;15340161;15342556;15489334;16740002;20237496;21787333 80341 Q8N4F0 ABBA01019245;ABBA01019246;AF465765;AK027068;AK172819;AK304064;AL121756;AMYH02036942;AY358723;BC034415;BP333980;CH471077;NG_016714;NM_025227 AAH34415;AAM73983;AAQ89085;ABM83406;ABM86617;BAD18788;BAG64971;EAW76341;NP_079503;Q8N4F0 Hs.257045 BPIL1;C20orf184;LPLUNC2;RYSR;dJ726C3.2 BPI fold-containing family B member 2;BPI-like 1;OTTHUMP00000030612;bactericidal/permeability-increasing protein-like 1;long palate, lung and nasal epithelium carcinoma-associated protein 2 APPROVED protein-coding ENSG00000078898 HGNC:16177 10690 614108 REVIEWED 1352137 BPI bactericidal/permeability-increasing protein This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has bactericidal activity on gram-negative organisms. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 33641353 33674701 + 36932552 36965907 + 38304150 38337505 + 1580079;1580863;6480464;8554872 15758620 11373419;11420435;11780052;11891303;12477932;12521224;12710851;12738651;12784398;12913926;14623259;15009116;15342556;15590754;16282362;16380496;16861658;16893388;17012258;17239348;17483073;17488601;17675509;17678885;17898994;19056867;19275920;19423540;19692168;19702878;19913121;20174761;20237496;20406964;20412700;20438785;20463618;20541026;20628086;20889312;21272798;21463973;21787345;22409502;23346184;23626859;2501794;2722846;3667613;7517398;8330906;8409400;8432532;9188532;9240454;9616176 671 A2A2A1;A2A2A2;H0Y738;P17213 ABBA01006644;ABBA01006645;ABBA01052519;ABBA01052520;ABBA01156452;AF322588;AI436120;AK296568;AK315328;AL359555;AL391095;AL499625;AL583962;AMYH02037059;AX713278;AX746123;AX752831;BC032230;BC040955;BP306215;CH471077;CQ800679;DQ414688;J04739;NM_001725;XM_005260522;XM_005260523;XR_244148;XR_430313;Y14215;Y14216;Y14217;Y14218;Y14219;Y14220;Y14221;Y14222;Y14223;Y14224;Y14225;Y14226;Y14227;Y14228;Y14229 AAA51841;AAG42844;AAH40955;ABD66755;BAG37729;BAG59188;CAD88641;CAD97475;CAD99178;CAG28072;EAW76035;NP_001716;P17213;XP_005260579;XP_005260580 Hs.529019 1780442;1855187;2148258;2150649;2217072 BPI_2849;D20S1064;SGC32792;SHGC-12397;stbA2202H1A BPIFD1;CAP 57;rBPI BPI fold containing family D, member 1;OTTHUMP00000030962;OTTHUMP00000030963;bactericidal permeability-increasing protein;recombinant BPI holoprotein, rBPI APPROVED protein-coding ENSG00000101425 HGNC:1095 00174 109195 REVIEWED 1604466 BPIFB3 BPI fold containing family B, member 3 ENCODES a protein that exhibits lipid binding (inferred); FOUND IN cytoplasm; INTERACTS WITH dibutyl phthalate (ortholog); lead diacetate (ortholog) 20 20 20 q11.21 28397115 28415310 + 31643230 31661434 + 33055424 33073628 + 6480464 11780052;11971875;12477932;12837268;14739326;17353931;20237496;21787333 359710 P59826;Q14DE0 ABBA01019245;AF549189;AL121756;AMYH02036942;BC113398;BC113400;CH471077;NM_182658 AAI13399;AAI13401;AAP84989;ADR83194;EAW76338;NP_872599;P59826 Hs.472442 C20orf185;LPLUNC3;RYA3;dJ726C3.4 BPI fold-containing family B member 3;OTTHUMP00000030614;ligand-binding protein RYA3;long palate, lung and nasal epithelium carcinoma associated 3;long palate, lung and nasal epithelium carcinoma-associated protein 3 APPROVED protein-coding ENSG00000186190 HGNC:16178 16644 615717 PROVISIONAL 2303462 BPIFA4P BPI fold containing family A, member 4, pseudogene ENCODES a protein that exhibits lipid binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH atrazine; benzo[a]pyrene (ortholog) 20 20 20 q11.21 28535301 28552159 + 31781411 31798268 + 33193605 33210462 + 6480464 11780052;12477932;12538848;14739326;15489334;17362520;18172302;21787333 317716 Q86YQ2 ABBA01019237;AL121901;AMYH02036945;AY180924;AY389991;AY389992;BC069128;BC069315;BC128240;BC128241;CH471077;NR_026760 AAO17728;EAW76334 Hs.434194 BASE;RP11-49G10.8 APPROVED pseudo ENSG00000183566 HGNC:20469 06359 607627 PROVISIONAL 5465740 BPIFB5P BPI fold containing family B, member 5, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 20 20 31904675 31917368 + 33316869 33329562 + 6480464 12887310;15106612;20210993;21787333 100505383 ABBA01019236;ABBA01019237;AL355392;AMYH02036945;NG_027787 pseudo HGNC:42177 INFERRED 1344811 BPIFB4 BPI fold containing family B, member 4 ENCODES a protein that exhibits lipid binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); extracellular region (inferred); INTERACTS WITH 4-(ethoxymethylene)-2-phenyloxazol-5-one (ortholog); clofibrate (ortholog); N-nitrosodiethylamine (ortholog) 20 20 20 q11.21 28423195 28453431 + 31669318 31699557 + 33081512 33111751 + 6480464;8554872 11780052;11971875;12837268;12887310;14739326;20237496;21787333 149954 F8WEG9;P59827 ABBA01019244;ABBA01019245;AF549190;AL121756;AMYH02036942;AMYH02036943;AMYH02036944;CH471077;NM_182519 AAI40294;AAI46506;AAP84990;EAW76336;EAW76337;NP_872325;P59827 Hs.38961 1658879;1673012;1705652 SHGC-83399;WI-18281;Z94439 C20orf186;LPLUNC4;RY2G5;dJ726C3.5 BPI fold-containing family B member 4;OTTHUMP00000030615;ligand-binding protein RY2G5;likely ortholog of rat probable ligand-binding protein RY2G5;long palate, lung and nasal epithelium carcinoma associated 4;long palate, lung and nasal epithelium carcinoma-associated protein 4 APPROVED protein-coding ENSG00000186191 HGNC:16179 16645 615718 VALIDATED 1343435 BPIFB1 BPI fold containing family B, member 1 The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 28624683 28651429 + 31870941 31897684 + 33283135 33309878 + 6480464;8554872 11780052;11971875;12477932;12874788;12975309;14702039;15489334;17207965;19056867;19212328;20237794;20360068;21787333;21900486;22767025;23650533;23708661;24107778 92747 A2A2R0;Q8TDL5 ABBA01019237;AF364078;AK127971;AK290243;AK310964;AK313176;AL121901;AL355392;AMYH02036945;AW449208;AY358595;BC008429;CD696225;CH471077;NM_033197 AAH08429;AAM00283;AAQ88958;ADQ32773;BAC87212;BAF82932;BAG35993;EAW76326;NP_149974;Q8TDL5 Hs.65551 2121559 AL023479 C20orf114;LPLUNC1;MGC14597;VEMSGP BPI fold-containing family B member 1;OTTHUMP00000043374;long palate, lung and nasal epithelium carcinoma associated 1;long palate, lung and nasal epithelium carcinoma-associated protein 1;von Ebner minor salivary gland protein APPROVED protein-coding ENSG00000125999 HGNC:16108 12740 REVIEWED 1323145 BPIFB6 BPI fold containing family B, member 6 ENCODES a protein that exhibits lipid binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH fonofos; parathion; terbufos 20 20 20 q11.21 28373331 28385730 + 31619454 31631853 + 33031648 33044047 + 1580863;6480464 11780052;12185532;12477932;14739326;15790807;20237496;21787333 128859 F5H8I3;Q8NFQ5 ABBA01019245;AF465767;AL121756;AMYH02036942;AY927631;BC113122;CH471077;NM_174897 AAI40307;AAI46465;AAM73985;EAW76339;EAW76340;NP_777557;Q8NFQ5 Hs.375090 BPIL3;LPLUNC6 BPI fold-containing family B member 6;OTTHUMP00000030617;bactericidal/permeability-increasing protein-like 3 APPROVED protein-coding ENSG00000167104 HGNC:16504 16561 614110 VALIDATED 1344816 BPY2B basic charge, Y-linked, 2B This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10935977 10957180 + 26764151 26785354 + 24618004 24639207 + 6480464 12207887;12724276;12815422;14627543;15177557;9381176;9847074 442867 O14599;R4GMN0 AC010153;CH471236;NG_004755;NM_001002760 AAI40268;EAW55859;NP_001002760;O14599 Hs.632848 5021232;5107387 G34986;G65869 BPY2;BPY2C;VCY2;VCY2B OTTHUMP00000042594;basic charge, Y-linked 2;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000183795 HGNC:25449 12530 REVIEWED 1323273 BPIFC BPI fold containing family C ENCODES a protein that exhibits lipid binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4,4'-diaminodiphenylmethane (ortholog); acrolein (ortholog) 22 22 22 q12.3 16612005 16655541 - 32809834 32860429 - 32413847 32464442 - 1580863;6480464;8554872 10591208;12185532;12477932;14739326;17562024;23793025 254240 F5H3G0;Q5TI88;Q8NFQ6 ABBA01055375;ABBA01055376;ABBA01055377;ABBA01055378;AF465766;AK301685;AL021937;AMYH02038266;AMYH02038267;BC062656;BC131582;CH471095;CK823453;CU456409;NM_174932;XM_005261485;XM_005261486 AAI31583;AAM73984;BAG63157;EAW60022;NP_777592;Q8NFQ6;XP_005261542;XP_005261543 Hs.372939;Hs.736771 1800086;1805846;1806058;1809680;1811308;1816898;1819708;1821792;1823926;1826672;1827460;1828594;1831034;1831634;1833628;1833736;1833910;1834154;1834340;1834544;1834672;1834970;1835026;1835254;1837140;1837498;1837808;1840650;1840706;1841002;1841142;1842504;1842902;1842970;1843140;1843256;1843806;1844210;1844302;1844854;1845436;1845688;2013754;2013756;2013758;2013760;2013762;2013764;2013766;2013768;2013770;2013772;2013774;2013776;2013778;2013780;2013782;2013784;2013786;2013788;2013790;2013792;2013794;2013796;2013798;2013800;2013802;2013804;2013806;2013808;2013810;2013812;2013814;2013816;2013818;2013820;2013822;2013824;2013826;2013828;2013830;2013832;2013834;2013836;2013838;2013840;2013842;2013844;2013846;2013848;2013850;2013852;2013854;2013856;2013858;2013860;2013862;2013864;2013866;2013868;2013870;2013872;2013874;2013876;2013878;2013880;2013882;2013884;2013886;2013888;2013890;2013892;2013894;2013896;2013898;2013900;2013902;2013904;2013906;2013908;2013910;2013912;2013914;2013916;2013918;2013920;2013922;2013924;2013926;2013928;2013930;2013932;2013934;2013936;2013938;2013940;2013942;2013944;2013946;2013948;2013950;2013952;2013954;2013956;2013958;2013960;2013962;2013964;2013966;2013968;2013970;2013972;2013974;2013976;2013978;2013980;2013982;2013984;2013986;2013988;2013990;2013992;2013994;2013996;2013998;2014000;2014002;2014004;2014006;2014008;2014010;2014012;2014014;2014016;2014018;2014020;2014022;2014024;2014026;2014028;2014030;2014032;2014034;2014036;2014038;2014040;2014042;2014044;2014046;2014048;2014050;2014052;2014054;2014056;2014058;2014060;2014062;2014064;2014066;2014068;2014070;2014072;2014074;2014076;2014078;2014080;2014082;2014084;2014086;2014088;2014090;2014092;2014094;2014096;2014098;2014100;2014102;2014104;2014106;2014108;2014110;2014112;2014114;2014116;2014118;2014120;2014122;2098720;2098722;2098724;2098726;2098728;2098730;2098732;2098734;2098736;2098738;2098740;2098742;2098744;2098746;2098748;2098750;2098752;2098754;2098756;2098758;2098760;2098762;2098764;2098766;2098768;2098770;2098772;2098774;2098776;2098778;2098780;2098782;2098784;2098786;2098788 ECD00898;ECD03874;ECD03982;ECD05832;ECD06652;ECD09495;ECD10921;ECD11982;ECD13057;ECD14450;ECD14846;ECD15424;ECD16653;ECD16954;ECD17959;ECD18013;ECD18101;ECD18225;ECD18318;ECD18420;ECD18484;ECD18636;ECD18664;ECD18782;ECD19736;ECD19916;ECD20074;ECD21515;ECD21544;ECD21694;ECD21765;ECD22459;ECD22659;ECD22693;ECD22778;ECD22836;ECD23114;ECD23318;ECD23365;ECD23643;ECD23935;ECD24062;REN77816;REN77817;REN77818;REN77819;REN77820;REN77821;REN77822;REN77823;REN77824;REN77825;REN77826;REN77827;REN77828;REN77829;REN77830;REN77831;REN77832;REN77833;REN77834;REN77835;REN77836;REN77837;REN77838;REN77839;REN77840;REN77841;REN77842;REN77843;REN77844;REN77845;REN77846;REN77847;REN77848;REN77849;REN77850;REN77851;REN77852;REN77853;REN77854;REN77855;REN77856;REN77857;REN77858;REN77859;REN77860;REN77861;REN77862;REN77863;REN77864;REN77865;REN77866;REN77867;REN77868;REN77869;REN77870;REN77871;REN77872;REN77873;REN77874;REN77875;REN77876;REN77877;REN77878;REN77879;REN77880;REN77881;REN77882;REN77883;REN77884;REN77885;REN77886;REN77887;REN77888;REN77889;REN77890;REN77891;REN77892;REN77893;REN77894;REN77895;REN77896;REN77897;REN77898;REN77899;REN77900;REN77901;REN77902;REN77903;REN77904;REN77905;REN77906;REN77907;REN77908;REN77909;REN77910;REN77911;REN77912;REN77913;REN77914;REN77915;REN77916;REN77917;REN77918;REN77919;REN77920;REN77921;REN77922;REN77923;REN77924;REN77925;REN77926;REN77927;REN77928;REN77929;REN77930;REN77931;REN77932;REN77933;REN77934;REN77935;REN77936;REN77937;REN77938;REN77939;REN77940;REN77941;REN77942;REN77943;REN77944;REN77945;REN77946;REN77947;REN77948;REN77949;REN77950;REN77951;REN77952;REN77953;REN77954;REN77955;REN77956;REN77957;REN77958;REN77959;REN77960;REN77961;REN77962;REN77963;REN77964;REN77965;REN77966;REN77967;REN77968;REN77969;REN77970;REN77971;REN77972;REN77973;REN77974;REN77975;REN77976;REN77977;REN77978;REN77979;REN77980;REN77981;REN77982;REN77983;REN77984;REN77985;REN77986;REN77987;REN77988;REN77989;REN77990;REN77991;REN77992;REN77993;REN77994;REN77995;REN77996;REN77997;REN77998;REN77999;REN78000;stSG602755;stSG602756;stSG602758;stSG602759;stSG602760;stSG602761;stSG602762;stSG602764;stSG602765;stSG602766;stSG602767;stSG602768;stSG602769;stSG602770;stSG602771;stSG602772;stSG602773;stSG602774;stSG602775;stSG602776;stSG602777;stSG602778;stSG602779;stSG602780;stSG602781;stSG602782;stSG602783;stSG602784;stSG602785;stSG602786;stSG602787;stSG602788;stSG602789;stSG602790;stSG602791 BPIL2 BPI fold-containing family C protein;BPI-like 2;OTTHUMP00000064018;bactericidal/permeability-increasing protein-like 2 APPROVED protein-coding ENSG00000184459 HGNC:16503 16560 614109 VALIDATED 1350495 BPIFB9P BPI fold containing family B, member 9, pseudogene 20 20 q11.21 31934926 31942850 + 33347120 33355044 + 21787330;21787333 402016 ABBA01019235;AL355392;AMYH02036945;NG_029803;XM_377675 C20orf115;dJ1187J4.2;dJ1187J4.3 APPROVED pseudo HGNC:16109 INFERRED 1353479 BPY2C basic charge, Y-linked, 2C This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10935977 10957180 + 27177048 27198251 - 25030901 25052104 - 12207887;12724276;12815422;14627543;15177557;9381176;9847074 442868 O14599;R4GMN0 ABBA01017884;AC016728;NG_004755;NM_001002761 AAI48465;AAI56665;NP_001002761;O14599 Hs.664724 5021232;5107387 G34986;G65869 BPY2;BPY2B;VCY2;VCY2C OTTHUMP00000042658;basic charge, Y-linked 2;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000185894 HGNC:18225 18658 REVIEWED 1352551 BPY2 basic charge, Y-linked, 2 This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq, Jul 2008] Y Y Y q11 10935977 10957180 + 25130410 25151612 + 22984263 23005465 + 1580863;6480464 12207887;12724276;12815422;14627543;15177557;17511727;20039973;20301513;9381176;9847074 9083 O14599;R4GMN0 AC006366;AF000980;NG_004755;NG_009862;NM_004678 AAC51828;NP_004669;O14599 Hs.664724 5021232;5107387 G34986;G65869 BPY2A;BPY2B;BPY2C;VCY2;VCY2A OTTHUMP00000064811;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000183753 HGNC:13508 02454 400013 REVIEWED 1346538 BRAFP1 BRAF pseudogene 1 X X X q13.3 75085812 75089167 + 74802489 74805844 + 75582654 75586009 + 1630826 286494 ABBA01059432;AC020717;AMYH02039790;NG_003108;X65188 BRAF2;BRAFPS2 APPROVED pseudo HGNC:18615 INFERRED 1315998 BPTF bromodomain PHD finger transcription factor This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008] 17 17 17 q24.3 62393834 62548958 + 65821644 65980494 + 67825528 67984378 + 1580863;6480464;9586059;9586057;9479075;9479074;8554872;9495920 21358755;23642229;24686119;9225734;9792236 10403843;10575013;10662542;10727212;11640947;12477932;12634501;14609955;14702039;15302935;15379550;15489334;16137655;16728976;16728978;17081983;17846119;18029348;18974875;19190132;19279002;19471022;20300178;20953165;21139048;21282530;21447625;21596426;21653943;21693764;21890473;21900206;22586326;22797724;22939629;23000965;23143601;24457600;24654937;24816145;25027693;7621746;8889548;8950167;8975731 2186 E7ETD6;E9PE19;F5GXF5;F5H176;J3KSK9;J3KSY0;J3QLW4;J3QQK4;J3QQQ8;Q12830 AB032251;ABBA01028976;ABBA01028977;ABBA01028978;ABBA01028979;ABBA01028980;ABBA01028981;AC006534;AC107377;AC134407;AK022081;AK022570;AK025776;AK027184;AK293224;AK296256;AK297281;AL833375;AMYH02033853;AMYH02033854;AMYH02033855;AMYH02033856;AMYH02033857;AMYH02033858;AMYH02033859;AY282495;BC037422;BC039881;BC050566;BC067234;BE464864;BQ716216;BU169920;BU176205;CF135401;CH471099;CV809604;KC877674;NM_004459;NM_182641;U05237;XM_005257150;XM_005257151;XM_005257152;XM_005257153;XM_005257154;XM_005257155;XM_005257156;XM_005257157;XM_005257158;XM_005257159;XM_005257160;XM_005257161;XM_005257162;XM_006721770;XM_006721771 AAA97522;AAH50566;AAH67234;AAP22284;BAA89208;BAB15686;BAG56763;BAG58970;BAG59752;EAW89038;EAW89039;NP_004450;NP_872579;Q12830;XP_005257207;XP_005257208;XP_005257209;XP_005257210;XP_005257211;XP_005257212;XP_005257213;XP_005257214;XP_005257215;XP_005257216;XP_005257217;XP_005257218;XP_005257219;XP_006721833;XP_006721834 Hs.444200 1678265;1697996;1701318;1739901;1767662;1797210;1855227;2108079;2153076;2177649 A007J48;D17S1772;FALZ;FALZ_8339;RH102527;RH104289;RH12419;RH36156;RH78180;SHGC-57348 FAC1;FALZ;NURF301 OTTHUMP00000163084;OTTHUMP00000163085;bromodomain and PHD domain transcription factor;bromodomain and PHD finger-containing transcription factor;fetal Alz-50 clone 1 protein;fetal Alz-50 reactive clone 1;fetal Alzheimer antigen;nucleosome remodeling factor, large subunit;nucleosome-remodeling factor subunit BPTF APPROVED protein-coding ENSG00000171634 HGNC:3581 03490 601819 REVIEWED 1348068 BRAP BRCA1 associated protein The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008] 12 12 12 q24 111705482 111749255 - 112079950 112123790 - 111642146 111685986 - 6480464 10508479;10777491;12477932;14724641;15340083;17550899;18332145;18380995;18577512;18781797;19009954;19152073;19198608;19549727;19698717;19713974;20040518;20139978;20639865;20686565;21139048;21145461;21301165;21372407;21670849;21857995;21890473;21906983;21963094;21983900;22022282;22053931;22078348;22085839;22122968;22493164;22493691;22505724;22965072;23000965;23105109;23356535;23526420;23554956;23707952;24097068;24454952;25015289;8889548;8955125;9497340 8315 J3KNN7;Q59H81;Q7Z569 AB208878;ABBA01019899;ABBA01019900;ABBA01019901;ABBA01019902;AC002996;AC137055;AF035620;AF035950;AK290379;AK299326;AK308279;AMYH02027210;AMYH02027211;AY332222;BC136698;BC136699;BU674276;CH471054;DB460078;NM_006768;XM_005253944 AAB88538;AAC24200;AAI36699;AAI36700;AAP93638;BAD92115;BAF83068;BAG61333;EAW97972;NP_006759;Q7Z569;XP_005254001 Hs.530940 1643966;1686488;1855656 RH66114;RH98922;WI-14855 BRAP2;IMP;RNF52 BRCA1-associated protein;OTTHUMP00000241647;OTTHUMP00000241648;OTTHUMP00000241649;RING finger protein 52;galectin-2-binding protein;impedes mitogenic signal propagation;renal carcinoma antigen NY-REN-63 APPROVED protein-coding ENSG00000089234 HGNC:1099 604986 REVIEWED 1350405 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008] 1 1 1 q41 193450034 193482399 - 220230824 220263249 - 220057482 220089896 - 6480464 10224133;12477932;14702039;15489334;20628624;21139048;21565611;21963094;22505724;24250222;24816145;25027693 10380 A6NF51;B7Z9J7;F8VRY7;F8VVW8;F8VZG4;F8W1J0;O95861;V9HWF9 ABBA01048082;ABBA01048083;ABBA01048084;ABBA01048085;AC103590;AF125042;AJ249339;AK021941;AK291943;AK298476;AK300777;AK315962;AMYH02002730;BC017801;BG114910;BG428446;CH471100;DC368603;EU794594;NM_001286149;NM_001286150;NM_001286151;NM_006085;XM_005272998;XM_005272999;XM_005273000;XM_005273004;XM_005273005;XM_006711114 AAD17329;AAH17801;ACJ13648;BAF84632;BAG60687;BAG62441;BAH14333;CAB65115;EAW93306;EAW93307;EAW93308;NP_001273078;NP_001273079;NP_001273080;NP_006076;O95861;XP_005273055;XP_005273056;XP_005273057;XP_005273061;XP_005273062;XP_006711177 Hs.406134 2134682;5016596;5037552 D8S2279;GDB:631802;SHGC-76373 HEL20;PIP 3'(2'),5'-bisphosphate nucleotidase 1;BPntase;OTTHUMP00000035564;OTTHUMP00000035565;OTTHUMP00000241397;PAP-inositol 1,4-phosphatase;PAP-inositol-1,4-phosphatase;bisphosphate 3'-nucleotidase 1;epididymis luminal protein 20 APPROVED protein-coding ENSG00000162813 HGNC:1096 06814 604053 VALIDATED 6769428 BPY2DP basic charge, Y-linked, 2D, pseudogene Y Y p11.2 7794130 7817040 - 7926089 7948999 - 100885797 ABBA01060178;ABBA01060179;AC010678;NG_032694 pseudo HGNC:38794 INFERRED 1352713 BRCA3 breast cancer 3 ASSOCIATED WITH Breast Cancer 3 (inferred) 7240710 10944226;11792833 60500 1340557 D13S1308 HGNC:18617 605365 1604470 BRCTD1 BRCT domain containing 1 q15 11230166;12477932;15632077 345499 AL050298;BC054885;BC070332;BC107571 AAH54885;AAH70332;AAI07572;CAB43397;Q3B7K4;Q6NSA5;Q6PHW9;Q9Y402 Hs.657315 BRCTx;DKFZp564C0469 protein-coding HGNC:25362 1606082 BRCA1P1 BRCA1 pseudogene 1 17 17 17 q21 37976945 37978829 - 41320087 41321971 - 43168070 43169954 - 10205276;11179671;11880951;19067158;21989022;8700509;8954804 394269 ABBA01006390;AC060780;AMYH02033451;NG_003183;NG_005905;U77841 LBRCA1;PsiBRCA1;pseudo-BRCA1 pseudo HGNC:28470 INFERRED 1318809 BRAT1 BRCA1-associated ATM activator 1 The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012] 7 7 7 p22.3 2546833 2564507 - 2577444 2595392 - 2537810 2555758 - 6480464;8699517;7240710;8554872 12477932;14702039;15342556;15489334;16196087;16452482;16964243;19471022;19946888;21139048;21693764;21890473;21906983;21963094;21987572;22279524;22505724;22863883;23000965;23251661;23383273;24073851 221927 F8WDN5;Q6PJG6 ABBA01039380;ABBA01039381;AC092488;AI963076;AK024482;AK131083;AK131097;AK311144;AL133088;AMYH02015076;AMYH02015077;AMYH02015078;BC007209;BC015632;BC023561;BC040704;BP363179;CH236953;CH471144;NG_032167;NM_152743;XM_005249642;XM_005249643;XM_005249644;XM_005249645;XM_006715657;XM_006715658 AAH07209;AAH15632;AAH23561;AAH40704;BAB15772;BAC85133;BAC85147;CAB61405;EAL23957;EAW87255;EAW87256;EAW87257;EAW87258;EAW87259;EAW87260;NP_689956;Q6PJG6;XP_005249699;XP_005249700;XP_005249701;XP_005249702;XP_006715720;XP_006715721 Hs.520623 1771476 IB3588 BAAT1;C7orf27;MGC22916;RMFSL BRCA1-associated protein required for ATM activation protein 1;HEAT repeat-containing protein C7orf27;OTTHUMP00000147633 APPROVED protein-coding ENSG00000106009 HGNC:21701 12914 614498;614506 REVIEWED 1344323 BRCC3 BRCA1/BRCA2-containing complex, subunit 3 This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011] X X X q28 154458427 154510104 + 154299695 154351349 + 155071420 155123074 + 6480464;9586066;9479061;8554872;9586067;8661242 18323671;24002223;24647359;24973494 11076863;12477932;1303175;14636569;14737182;15342556;15489334;15489336;16189514;16381901;17143545;17353931;17525341;17664283;18077395;19015238;19202061;19214193;19261746;19261748;19261749;19305427;19380743;19615732;20032457;20656689;20656690;21139048;21282113;21335604;21596366;21890473;21906983;21963094;21987572;22053931;22357538;22505724;22689573;22863883;22990118;23000965;23211528;23264621;24654937;24816145;8247530 79184 H7C413;H9KVA9;P46736;X6RJS7 ABBA01029116;ABBA01029117;ABBA01029118;ABBA01029119;ABBA01029120;ABBA01029121;ABBA01029122;ABBA01029123;ABBA01029124;ABBA01029125;ABBA01029126;AK298886;AK299194;AK310286;AK313544;AMYH02040865;AY438030;BC002999;BC006540;BP304352;BU902387;BX293995;BX470111;CH471172;NM_001018055;NM_001242640;NM_024332;S68015;X64643;XM_005274749;XM_005274750;XM_005274751;XM_006724846 AAB29005;AAH02999;AAH06540;AAR30498;BAG36320;BAG60999;BAG61237;CAA45917;CAL37707;EAW72632;EAW72633;EAW72634;EAW72635;EAW72636;EAW72637;NP_001018065;NP_001229569;NP_077308;P46736;XP_005274806;XP_005274807;XP_005274808;XP_006724909 Hs.558537 1681460;1800254;1800410;1802244;1806514;1809564;1813088;1813970;1816038;1816750;1817078;1817476;1820278;1820344;1822890;1823862;1824406;1824486;1827220;1827396;1828442;1828444;1829942;1831506;1831682;1833870;1836286;1837602;1837910;1838872;1841088;1842792;1843464;1844916;1845144;2103180;2103182;2103184;2103186;2103188;2103190;2103192;2103194;2103196;2103198;2103200;2103202;2103204;2103206;2103208;2103210;2103212;2103214;2103216;2103218;2103220;2103222;2103224;5022209 ECD00985;ECD01065;ECD02005;ECD04214;ECD05774;ECD07563;ECD08012;ECD09059;ECD09419;ECD09588;ECD09788;ECD11213;ECD11247;ECD12533;ECD13023;ECD13301;ECD13341;ECD14725;ECD14814;ECD15347;ECD15348;ECD16104;ECD16890;ECD16978;ECD18081;ECD19304;ECD19968;ECD20126;ECD20615;ECD21738;ECD22603;ECD22941;ECD23674;ECD23789;RH79163;STS-X64643;stSG604436;stSG604437;stSG604438;stSG604439;stSG604441;stSG604442;stSG604443;stSG604444;stSG604446;stSG604447;stSG604448;stSG604449;stSG604450;stSG604451;stSG604452;stSG604453;stSG604454;stSG604455;stSG604456;stSG604457;stSG604458;stSG604461;stSG604462 BRCC36;C6.1A;CXorf53;RP11-143H17.2 BRCA1-A complex subunit BRCC36;BRCA1/BRCA2-containing complex subunit 36;BRISC complex subunit BRCC36;OTTHUMP00000024245;OTTHUMP00000024246;OTTHUMP00000196187;OTTHUMP00000196188;lys-63-specific deubiquitinase BRCC36 APPROVED protein-coding ENSG00000185515 HGNC:24185 06465 300617 REVIEWED 1323531 BRD1 bromodomain containing 1 This gene encodes a protein of unknown function. The protein contains a bromodomain, a sequence motif often found in transcriptional coactivators, and localizes to the nucleus in testis and several other cell types. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34088639 34139967 - 50166931 50221196 - 49773283 49827548 - 1580863;6480464;9586108;9586358;9479075;9586096 16924267;19908236;22675730;24686119 10591208;10602503;12477932;1350857;15231748;15461802;16169070;16387653;16407974;16484223;17081983;18029348;19460752;19693800;19763615;20211142;20224553;20379614;21139048;21273288;21720545;21880731;21890473;22820306;23894747 23774 B4E3L9;J3KQ61;O95696 AB209216;ABBA01031328;ABBA01031329;ABBA01031330;AF005067;AK292428;AK302736;AK302845;AK304330;AK304776;AL049402;AL080149;AMYH02038584;BC030007;BC047508;CH471138;CR456408;CR936643;NM_014577;XM_005261470;XM_005261471;XM_005261472;XM_005261473;XM_006724210;XM_006724211;XM_006724212;XM_006724213;XM_006724214;XM_006724215;XM_006724216;XR_244359;XR_244360;Z98885 AAF34320;AAH30007;AAH47508;BAD92453;BAF85117;BAG63953;BAG64034;BAG65531;BAH14162;CAB45742;CAG30294;CAH56423;CAI56783;CAK54399;CAK54698;EAW73473;EAW73474;EAW73475;EAW73476;EAW73477;NP_055392;O95696;XP_005261527;XP_005261528;XP_005261529;XP_005261530;XP_006724273;XP_006724274;XP_006724275;XP_006724276;XP_006724277;XP_006724278;XP_006724279 Hs.127950 1644724;1646674;1711628;1711692;1732185;2107895 BRD1_8015;D22S1057;D22S55;G49315;G49348;WI-14811 BRL;BRPF1;BRPF2;DKFZp686F0325 BR140-like protein;OTTHUMP00000196965;OTTHUMP00000196966;OTTHUMP00000196967;OTTHUMP00000196968;bromodomain and PHD finger-containing protein 2;bromodomain-containing protein 1 APPROVED protein-coding ENSG00000100425 HGNC:1102 06848 604589 REVIEWED 1350574 BRD2 bromodomain containing 2 This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010] 6 6 6 p21.3 34485349 34498195 + 32936437 32949282 + 32968660 32981505 + 1358444;1580863;6480464;9479075;9586343;9586345;9586346;9586446 12830434;14563639;16516380;19883376;23950209;24686119 10934046;10965846;11502199;11983150;12145330;12366783;12477932;12600283;1350857;1352711;14574404;14702039;14731392;15146197;15302935;15342556;15489334;15548137;15949438;16344560;16512664;1663500;16786191;16940503;17081983;17111193;17148447;17166848;17848202;17999746;18406326;19204726;19322201;19454010;19766566;19851445;19953286;20036832;20048151;20587610;20709061;20811636;21139048;21608014;22035730;22766109;23115324;23255218;23455922;23756480;24048450;24049186;24146614;24250222;24733848;25049379;8595877;8781126;9373153;9693039 6046 E9PIQ3;E9PKQ9;H0Y6K2;H0Y799;H0YDJ7;J3QR72;P25440;U3KPW0;U3KQA6;X5CF57 ABBA01038136;ABBA01038137;AF107699;AI983495;AK056504;AL645941;AL662845;AL805913;AL832722;AL935042;AMYH02013475;BC000477;BC001885;BC007715;BC063840;BP271262;BX005422;BX647233;BX648109;BX664702;BX908719;CH471081;CN398334;CR752645;CR759798;CR759829;CR936909;D42040;DA127395;DA505721;DC379337;H11588;HY065625;M80613;NM_001113182;NM_001199455;NM_001199456;NM_001291986;NM_005104;NR_037625;S78771;X62083;X96670;XR_241911;XR_246967;XR_247375;XR_247406;XR_247427;Z84497;Z96104 AAA68890;AAD24963;AAH63840;BAA07641;CAA43996;CAA65450;CAC69989;CAH56171;CAH56179;CAH56208;EAX03662;EAX03663;EAX03664;EAX03665;EAX03666;NP_001106653;NP_001186384;NP_001186385;NP_001278915;NP_005095;P25440 Hs.75243 1789328;1790881;1791013;1856506;2119275;2143625;2160325;2175877;2182065;2189715;2190309;2190311;2190313;2190317;2190319;2190321;2190323;2190325;2190327;2190329;2190331;2190333;2190335;2190337;2190339;2190341;2217074;2220316;5127045 A008D22;BRD2_3857;CGCb250;CGCb278;CGCb369;CGCb535;CGCb688;CGCb741;CGCb781;CGCb787;CGCb908;CGCbi2;CGCbi4-2;CGCbpr;CGCbx13;CGCbx3;CGCbx4;CGCbx9;D6S1894;D6S2656;G67884;M2_2_23;NIB1722;RH18121;RH79050;RING3-CA;RING3CA;SGC31960;STS-T87864 D6S113E;DKFZp686N0336;FLJ31942;FSH;FSRG1;KIAA9001;NAT;RING3;RNF3 O27.1.1;OTTHUMP00000029350;OTTHUMP00000178757;OTTHUMP00000178758;OTTHUMP00000178759;bromodomain-containing 2;bromodomain-containing protein 2;female sterile homeotic-related gene 1;really interesting new gene 3 protein APPROVED protein-coding ENSG00000204256 HGNC:1103 03326 601540 REVIEWED 735645 BRAF B-Raf proto-oncogene, serine/threonine kinase This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q34 135155867 135346614 - 140415749 140624564 - 140719334 140924764 - 1580093;1580103;1580863;1580106;1626216;2315865;2315868;2298531;2315855;2298686;2293882;5133243;5133242;6480464;5686410;6484113;6907045;7240710;1600471;8554872;8699517 16424035;16439621;16474404;16508002;17126425;17310240;18060073;18098337;19079609;19289622;19955937;20951313;21277552;22177953 10205168;10454553;10712923;10854065;10869359;10931830;11032810;11278445;11325826;11410590;11510412;12068308;12138204;12194967;12198537;12447372;12460918;12460919;12464615;12477932;12619120;12620389;12644542;12670889;12690205;12697856;12753285;12778069;12810628;12821662;12824225;12853948;12855697;12879021;12881714;12893203;12917419;12931219;12960123;12970315;14500344;14501284;14507635;14513361;14522897;14534542;14602780;14612909;14618633;14639609;14654779;14668801;14688025;14691295;14695152;14695993;14702039;14719068;14722037;14724583;14734469;14961576;14966563;15001635;15009714;15009715;15014028;15035987;15077125;1508179;15104286;15126572;15140228;15145515;15150271;15161700;15161933;15179189;15186612;15191558;15263001;15273715;15277467;15302935;15313890;15324660;15330192;15331929;15339934;15373778;15488754;15489334;15489648;15538400;15577314;15630448;15632082;15653554;1565476;15702478;15705790;15710605;15761501;15765445;15778465;15782118;15791479;15791648;15824163;15842051;15880523;15904951;15935100;15968271;15980887;15994075;15998781;16007166;16007203;16015629;16024606;16079850;16096377;16098042;16123397;16129781;16143028;16144912;16172610;16174717;16179867;16179870;16181240;16181547;16199894;16268813;1630826;16354196;16354586;16361694;16364920;16371460;16373964;16376942;16382052;16397024;16413100;16417232;16452469;16452550;16462768;16487015;16537381;16547495;16601293;16618717;16687919;16691193;16721785;16728573;16773193;16786134;16799476;16803888;16804544;16809487;16810323;16845322;16858395;16858683;16879389;16888650;16912199;16918136;16918957;16924241;16932278;16937524;16946010;16953233;16959844;16964243;16964379;16973828;16987295;17001349;17018604;17044028;17060774;17074813;17097223;17119056;17119447;17143285;17148775;17159915;17170014;17179987;17186541;17192257;17195912;17199737;17227125;17270239;17297294;17302867;17309670;17312306;17315191;17318013;17353931;17355635;17360030;17366577;17387744;17393356;17440063;17453004;17453358;17454879;17464312;17483702;1748651;17487277;17487504;17488796;17507627;17516929;17518771;17520704;17525723;17535994;17542667;17548320;17563371;17566669;17603482;17635919;17663506;17671688;17685465;17693984;17696195;17699719;17704260;17714762;17717450;17721188;17727338;17785355;17786355;17854396;17878251;17911174;17914558;17924122;17940185;17942568;17962436;17972530;17979178;18000091;18008004;18024410;18029348;18032947;18042262;18045960;18061181;18070147;18071315;18172070;18199160;18224685;18226854;18227705;18228248;18235983;18246127;18267069;18310286;18310287;18310288;18323787;18329792;18332145;18337114;18343945;18368129;18375819;18381570;18382358;18383861;18397470;18398503;18402768;18408659;18413255;18435933;18451171;18458053;18470905;18509003;18509361;18517279;18519771;18532874;18567582;18592405;18594528;18602919;18615679;18615680;18621636;18628356;18628431;18628967;18632627;18636014;18650848;18668139;18669866;18676742;18676756;18682506;18697864;18710471;18715233;18716556;18718023;18757341;18757433;18759827;18778891;18782444;18787396;18794094;18794803;18798261;18806830;18832519;18834226;18840924;18945298;18946221;18953432;18974108;18980976;18985043;18987552;18992635;19001320;19003996;19012001;19014278;19016743;19018267;19026650;19033861;19034577;19037234;19064572;19087308;19098310;19107232;19126563;19127559;19133693;19142971;19147753;19152441;19159571;19164452;19178815;19190079;19190105;19190129;19194051;19200582;19206169;19207009;19208736;19226609;19237633;19240718;19255327;19274086;19276360;19282104;19342899;19344998;19351817;19355825;19358278;19362540;19369630;19370505;19372556;19383313;19383316;19389934;19393416;19398955;19404844;19404918;19414674;19415957;19416762;19424571;19424639;19430562;19440799;19461239;19464601;19474002;19487299;19492075;19498322;19504446;19534622;19534623;19543740;19547661;19551857;19561230;19571295;19571709;19571821;19574281;19584155;19603018;19603024;19624312;19626635;19628078;19633643;19637313;19638574;19644722;19652585;19659611;19667065;19667985;19669908;19679016;19679059;19681119;19682280;19686742;19690147;19693938;19704056;19710001;19710016;19718661;19724843;19725049;19735675;19738388;19738460;19745699;19752400;19759551;19765726;19794125;19826477;19829302;19850689;19855373;19861538;19861964;19878585;19880519;19881948;19883729;19884549;19884556;19893451;19903786;19908233;19913317;19919630;19919912;19935791;19953087;19956635;19958951;19959686;19960590;20008640;20009493;20012784;20023270;20027224;20043015;20044755;20049644;20051945;20068183;20098682;20118768;20140953;20146801;20156809;20162668;20177422;20182446;20186801;20187782;20200438;20212043;20230995;20233436;20234366;20300843;20301303;20301365;20301557;20301680;20302979;20303012;20305537;20332228;20351680;20379614;20381121;20406109;20407018;20410389;20413299;20444249;20445557;20453000;20454969;20460314;20473281;20478260;20485284;20489114;20495538;20496269;20498063;20501503;20501689;20514492;20519626;20526288;20543023;20563851;20569675;20570909;20571907;20573852;20576522;20591910;20605766;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08;24612623;24617711;24619974;24625419;24638167;24639117;24677749;24713734;24717435;24721513;24746198;24767862;24816145;24832158;24833563;24859340;24958825;24964758;25015869;3043188;7706312;7731720;7935374;8157000;8394352;8621729;8668348;9069267;9154803;9207797;9560161;9847074 673 H7C4S5;H7C560;H7C5K3;P15056 AA252358;AA834931;ABBA01034086;ABBA01034087;ABBA01034088;ABBA01034089;ABBA01034090;ABBA01034091;AC006006;AC006344;AC006347;AC079339;AI203435;AK054801;AK094023;AK098095;AK124257;AK314346;AMYH02016910;AMYH02016911;AW971583;BC038966;BC101757;BC112079;BM263585;CH236950;CH471070;DB454480;DN996440;EU600171;HB432546;HC464558;HM437233;M21001;M95712;NG_007873;NM_004333;X65187;XM_005250045;XM_005250046;XR_242190 AAA35609;AAA96495;AAD15551;AAD43193;AAI01758;AAI12080;AAS00359;ACD11489;ADN43065;CAA46301;CAZ68014;CBK51920;EAL24023;EAW83964;EAW83965;NP_004324;P15056;XP_005250102;XP_005250103 Hs.550061;Hs.600998;Hs.659507 1718051;1851691;1853747;2116083;2119056;2120598;2162361;2173466;2178697 D7S1672;D7S2227;GDB:1317924;GDB:1318226;GDB:1318374;RH122643;SHGC-35884;STS-T28237;WI-17864 B-RAF1;BRAF1;FLJ95109;MGC126806;MGC138284;NS7;RAFB1;p94 94 kDa B-raf protein;B-Raf proto-oncogene serine/threonine-protein kinase (p94);OTTHUMP00000212184;murine sarcoma viral (v-raf) oncogene homolog B1;proto-oncogene B-Raf;serine/threonine-protein kinase B-raf;v-raf murine sarcoma viral oncogene homolog B;v-raf murine sarcoma viral oncogene homolog B1 APPROVED protein-coding ENSG00000157764 HGNC:1097 01264 115150;164757;211980;613706;613707 REVIEWED 736254 BRCA2 breast cancer 2, early onset Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008] 13 13 13 q12.3 13956447 14040613 + 32889617 32973809 + 32315480 32399672 + 1580863;1599503;734658;1599505;2289049;2289050;2289042;2289044;2289045;2289046;2289048;2289043;2296027;6480464;6907045;7240710;8554872;8699517;9068467;8662366;9068469;9068468;9068461 10451700;12065746;14757868;15689453;16273225;16280055;16650962;16964288;18024013;18042939;18165636;18182994;18431743;20690856;22187320;8524414 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675 H0YD86;H0YE37;P51587 ABBA01010135;ABBA01010136;ABBA01010137;AF309413;AF348515;AF489725;AF489726;AF489727;AF489728;AF489729;AF489730;AF489731;AF489732;AF489733;AF489734;AF489735;AF489736;AF489737;AF489738;AF507079;AF507080;AF507081;AF507082;AF507083;AF507084;AF507085;AF507086;AF507087;AF507088;AF507089;AF507090;AL137247;AL445212;AMYH02027823;AY008850;AY008851;AY151039;AY436640;BC026160;BC047568;CH471075;DQ897648;JX480468;JX480469;JX480470;JX480471;JX480473;JX480474;JX480476;JX480477;JX480478;NG_012772;NM_000059;U43746;X95152;X95161;Z73359;Z74739 AAB07223;AAG32681;AAG32682;AAG46030;AAK29432;AAN28944;AAN61409;AAN61410;AAN61411;AAN61412;AAN61413;AAN61414;AAN61415;AAN61416;AAN61417;AAN61418;AAN61419;AAN61420;AAN61421;AAN61422;AAN61426;AAN61427;AAN61428;AAN61429;AAN61430;AAN61431;AAN61432;AAN61433;AAN61434;AAN61435;AAN61436;AAN61437;AAQ97181;ABI74674;ACX32322;AFU88810;AFU88811;AFU88812;AFU88813;AFU88815;AFU88816;AFU88818;AFU88819;AFU88820;CAA64484;CAA97728;CAA98995;EAX08499;EAX08500;EAX08501;NP_000050;P51587 Hs.34012 1695158;1708016;1792188;1792190;1792192;1792194;1792196;1793590;1794268;1926704;2113446;2121311;2131231;2155936;5491828 BRCA2;D13S1788;G48219;PMC13918P2;PMC13918P3;PMC13918P4;PMC13918P5;PMC13918P6;PMC23830P1;PMC310899P14;REN34178;RH68440;SHGC-81356;STS-X95152;STS-X95157 BRCC2;BROVCA2;FACD;FAD;FAD1;FANCB;FANCD;FANCD1;GLM3;PNCA2 BRCA1/BRCA2-containing complex, subunit 2;OTTHUMP00000018803;breast and ovarian cancer susceptibility gene, early onset;breast cancer 2;breast cancer 2 tumor suppressor;breast cancer susceptibility protein BRCA2;breast cancer type 2 susceptibility protein;fanconi anemia group D1 protein;truncated breast and ovarian cancer susceptibility protein 2 2303074 MAMTS46_H APPROVED protein-coding ENSG00000139618 HGNC:1101 02554 114480;155255;176807;194070;600185;605724;612555;613029;613347 REVIEWED 1320478 BRD7 bromodomain containing 7 This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 16 16 16 q12 34867347 34917271 - 50352929 50402845 - 50319018 50368934 - 6480464;8694154;9495920;9479075;9586445;9586443;9586444;9586441;9586442 18772500;21358755;22008115;23215825;23355908;24198243;24404152;24686119 10526152;11025449;12477932;12489984;12600283;12766061;12918109;12941796;14702039;15137061;15383276;15489334;16169070;16265664;16344560;16475162;16786191;16792505;17081983;18329849;18778484;18809673;19111069;19471022;19505873;19909775;20130577;20211142;20215511;20228809;20305087;20360068;20561408;20660729;21139048;21873788;21890473;22015043;22864638;23110154;24124411;24657164;24816145 29117 I3L0Y7;I3L4V5;Q9NPI1 ABBA01000874;ABBA01000875;AC007493;AC007597;AC023826;AF152604;AF213969;AJ271881;AK027308;AK074613;AMYH02032012;AW615116;BC001611;BC050728;BC094706;CD677718;CH471092;DA645362;NG_023418;NM_001173984;NM_013263;XM_005255911;XM_005255912 AAF19526;AAF75126;AAH01611;AAH50728;AAH94706;BAB55031;BAC11089;CAB72445;EAW82756;EAW82757;EAW82758;EAW82759;NP_001167455;NP_037395;Q9NPI1;XP_005255968;XP_005255969 Hs.437894 1680212;1683371;1735290;1857830;2144750;2151134 D3S2934E;RH12903;RH18317;RH68546;SHGC-2534;SHGC-64341 BP75;CELTIX1;NAG4 75 kDa bromodomain protein;OTTHUMP00000164222;OTTHUMP00000164223;bromodomain protein;bromodomain-containing 7;bromodomain-containing protein 7;protein CELTIX-1 APPROVED protein-coding ENSG00000166164 HGNC:14310 REVIEWED 1318974 BRD3 bromodomain containing 3 This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008] 9 9 9 q34 107443656 107481364 - 136895427 136933655 - 134030305 134068533 - 1580863;6480464;9479075 24686119 12371535;12477932;12600283;15164053;15302935;15489334;16008511;17081983;17934517;18406326;19322201;19454010;20195357;21555453;21832049;21900206;22035730;22139419;22779921;22939629;23000965;23602568;24049186;7584044;8619474;8781126;9110174;9373153 8019 A9J571;A9J575;Q15059 AA766480;ABBA01021990;ABBA01021991;AC000391;AC002105;AC002323;AF052138;AK026880;AK123322;AK299519;AL445931;AL591386;AMYH02021844;AMYH02021845;AW409970;AY513270;BC010699;BC030095;BC032124;BI545861;CH471090;D26362;DW413353;NM_007371;XM_005272214;XM_006717291;Z81330 AAH32124;AAS82952;BAA05393;BAG61471;EAW88113;EAW88114;EAW88115;NP_031397;Q15059;XP_005272271;XP_006717354 Hs.522472;Hs.654869 1697700;1738321;1856076;1857212;2131605;2132497;2132499;2151781;2157493;2166686 A006H47;D11S4285;D9S1018E;D9S1348;D9S2059;G20827;RH102366;RH25279;STS-D26362;STS-W74619 FLJ23227;FLJ41328;KIAA0043;ORFX;RING3L OTTHUMP00000022724;OTTHUMP00000022725;RING3-like protein;bromodomain-containing 3;bromodomain-containing protein 3 APPROVED protein-coding ENSG00000169925 HGNC:1104 03327 601541 REVIEWED 1343686 BRD7P1 bromodomain containing 7 pseudogene 1 14 14 14 q11.2 4081020 4083243 + 24218315 24220538 + 23749106 23751329 + 100288948 ABBA01061325;AL160237;AMYH02028873;NG_022855 BRD7P APPROVED pseudo HGNC:19923 INFERRED 1626549 BRD7P2 bromodomain containing 7 pseudogene 2 3 3 3 q25.33 158240085 158242306 + 159818478 159820699 + 160100691 160102912 + 647076 ABBA01058799;AC026118;AMYH02008013;NG_009641 1680212;1683371;1735290;1857830;2144750 D3S2934E;RH12903;RH18317;SHGC-2534;SHGC-64341 pseudo HGNC:33541 INFERRED 3207434 BRD7P4 bromodomain containing 7 pseudogene 4 6 6 6 q21 112497473 112499718 + 111750912 111753157 + 111429709 111431954 + 100287229 ABBA01026090;AL512325;AMYH02014305;NG_016163 1857830 SHGC-64341 pseudo HGNC:37630 INFERRED 1316385 BRD4 bromodomain containing 4 The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15243961 15286908 - 15348301 15443354 - 15237490 15280451 - 1580863;6480464;9586348;9586350;9586353;9479075;9586346;9586351;9586352 21814200;22120039;23759512;23939492;23950209;24686119;25120803 10938129;11733348;12192049;12477932;12543779;12840145;15057824;15109495;15231748;15302935;15456879;15795266;15994877;16055720;16109376;16109377;16169070;16611886;16921027;16940503;16980611;17023018;17081983;17189189;17189190;17474147;17626100;17643375;17686863;17690245;17934517;18029348;18039861;18305892;18500820;18971272;18996376;19038968;19103749;19129460;19211738;19322201;19336002;19471022;19553317;19596781;19766566;19846528;20036832;20201073;20676058;21030982;21139048;21149631;21252943;21360054;21555454;21652721;21693764;21890473;21900206;21964340;22035730;22084242;22334664;22623531;22645123;22939629;23027873;23041316;23086925;23087374;23115324;23128391;23144621;23255218;23317504;23324342;23365439;23370386;23455924;23518577;23658523;23722886;23728299;23818621;24049186;24090311;24100334;24146614;24189064;24260471;24278023;24360279;24367103;24403256;24448221;24497639;24525235;24584072;24657799;24733848;25049379 23476 M0QYW0;M0QZD9;M0R0H4;O60885 ABBA01051106;ABBA01051107;ABBA01051108;AC003111;AC004798;AF386649;AK307664;AMYH02035647;AMYH02035648;AMYH02035649;AMYH02035650;BC000156;BC008354;BC030158;BC035266;BC038988;BC047888;BC067129;BC091649;CH471106;KF974357;NM_014299;NM_058243;Y12059 AAC27978;AAH00156;AAH08354;AAH30158;AAH35266;AAH38988;AAH47888;AAH67129;AAH91649;AAL26987;AHK61044;CAA72780;EAW84469;EAW84470;EAW84471;EAW84472;EAW84473;NP_055114;NP_490597;O60885 Hs.187763 1660009;1671587;1671589;1686694;2123482;2123484;5491268 A001Y01;A006J46;G19768;G20884;MARC_6953-6954:992007586:1;RH69303;RH91446 CAP;HUNK1;MCAP HUNKI;bromodomain-containing 4;bromodomain-containing protein 4;chromosome-associated protein APPROVED protein-coding ENSG00000141867 HGNC:13575 10574 608749 REVIEWED 69132 BRCA1 breast cancer 1, early onset This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009] 17 17 17 q21 37853171 37934354 - 41196312 41277500 - 43044295 43125483 - 1580863;1599502;734655;734657;734656;1599497;1578504;2293150;2293156;2293014;2293154;2293190;2293149;2293151;2293153;2298941;2298942;2293155;2293152;2289042;6480464;6484113;6907045;7240710;8554872;8662965;8693672;8661237 10398279;10442317;11889595;12203372;12773202;16498454;17505536;18094410;18182994;18204050;18256760;18269736;18400253;18443292;18483361;20679336;24239235;24326623;7907678;9167459;9700175 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AAA73985;AAB08105;AAB40910;AAB61673;AAC00049;AAC37594;AAC50330;AAF97939;AAH30969;AAH62429;AAH72418;AAH85615;AAI06746;AAI06747;AAI15038;AAM18218;AAM18219;AAM18220;AAM18221;AAM18222;AAM18223;AAM18225;AAM18226;AAN10167;AAN61423;AAN61425;AAP12647;AAP70031;AAQ92977;AAU21563;AAU21564;AAU93634;AAZ16492;AAZ79406;AAZ79407;AAZ79409;AAZ79410;ABA29208;ABA29211;ABA29214;ABA29217;ABA29220;ABA29223;ABA29226;ABA29229;ABB87053;ABB87054;ABB87055;ABB87056;ABB87057;ABB87058;ABB87059;ABB87060;ABB87061;ABB87062;ABB87063;ABB87064;ABB87065;ABB87066;ABB87067;ABB87069;ABB87070;ABB87071;ABB87072;ABB87073;ABB87074;ABB87075;ABB87076;ABB87077;ABB87078;ABB87079;ABC59810;ABC59811;ABC88652;ABF14462;AEQ98814;BAH14571;BAK64160;CAA70003;EAW60922;EAW60923;EAW60924;EAW60925;EAW60926;EAW60927;EAW60928;EAW60929;EAW60930;EAW60931;EAW60932;EAW60933;EAW60934;EAW60935;EAW60936;EAW60937;EAW60938;EAW60939;EAW60940;EAW60941;EAW60942;NP_009225;NP_009228;NP_009229;NP_009230;NP_009231;P38398;XP_006722092;XP_006722093;XP_006722094;XP_006722095;XP_006722096;XP_006722097;XP_006722098;XP_006722099;XP_006722100;XP_006722101;XP_006722102;XP_006722103;XP_006722104 Hs.194143 1339869;1646829;1686754;1722255;1730946;1733800;1744103;1744105;1744107;1744109;1744111;1744113;1744115;1744117;1744119;1744121;1744123;1744125;1744127;1744129;1744131;1744133;1744135;1744137;1744139;1744415;1744417;1744419;1744421;1744423;1744425;1744427;1744429;1744431;1744433;1744435;1744437;1744439;1744441;1744443;1744445;1744447;1744449;1744451;1745637;1745639;1745697;1759043;1791446;1792180;1792186;1793764;1793766;1794264;1794266;1794270;1794272;1794274;1794276;1794278;2106449;2164296;2190495;5022588;5109450;5127899 BRCA1;BRCA1_4046;D17S1198;D17S1322;D17S1323;D17S855;D17S932;D5S1597E;G10044;G60034;GDB:388557;GDB:388674;GDB:388688;GDB:389033;GDB:389047;GDB:389054;GDB:391358;GDB:391365;GDB:391372;GDB:391818;GDB:391825;GDB:391832;GDB:391839;GDB:391846;GDB:391853;GDB:391860;GDB:391867;GDB:391874;GDB:391881;GDB:454227;GDB:454278;GDB:454349;GDB:454353;GDB:454372;GDB:454381;GDB:454417;GDB:454421;GDB:454425;GDB:454429;GDB:454433;GDB:454437;GDB:454441;GDB:454446;GDB:454450;GDB:454454;GDB:454458;GDB:454462;GDB:454466;GDB:626829;GDB:626905;GDB:631944;PMC110706P1;PMC139147P1;PMC13918P1;PMC280658P1;PMC280658P2;PMC310899P11;PMC310899P12;PMC310899P2;PMC310899P3;PMC310899P5;PMC310899P6;PMC310899P8;RH79896;SHGC-151111;SHGC-152118 BRCC1;BROVCA1;IRIS;PNCA4;PPP1R53;PSCP;RNF53 BRCA1/BRCA2-containing complex, subunit 1;BRCAI;OTTHUMP00000212143;OTTHUMP00000212147;OTTHUMP00000212148;OTTHUMP00000212149;OTTHUMP00000212150;OTTHUMP00000212151;OTTHUMP00000212155;RING finger protein 53;breast and ovarian cancer susceptibility protein 1;breast and ovarian cancer sususceptibility protein;breast and ovarian cancer sususceptibility protein 1;breast cancer 1;breast cancer type 1 susceptibility protein;protein phosphatase 1, regulatory subunit 53 2292917;2292991;2292992;2303079 MAMTS45_H;PRSTS123_H;PRSTS128_H;PRSTS133_H APPROVED protein-coding ENSG00000012048 HGNC:1100 00218 113705;604370;614320 REVIEWED 1626540 BRD7P3 bromodomain containing 7 pseudogene 3 INTERACTS WITH copper(2+) sulfate; formaldehyde; methyl methanesulfonate 6 6 6 q22.31 119565861 119568334 + 118822536 118825009 + 118501373 118503846 + 6480464 10526152;12477932 23629 ABBA01026028;AF167351;AMYH02014369;BC033937;NG_021248;NR_002730;Z99496 AAD46658 Hs.648050 1735290 D3S2934E BP75;MGC42164 pseudo HGNC:24171 VALIDATED 1316511 BRD9 bromodomain containing 9 ENCODES a protein that exhibits lysine-acetylated histone binding; INVOLVED IN chromatin modification (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); PARTICIPATES IN SWI/SNF family mediated chromatin remodeling pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 5 5 5 p15.33 905000 934089 - 863850 892939 - 863735 892824 - 737633;6480464;9495920;8554872 12477932;21358755 12601173;12975309;14702039;15489334;18559093;19471022;20379614;21693764 65980 B4DXI2;C9JBY0;F2Z2E8;H0YAW8;H0YBF1;H0YBR9;H0YBX9;Q9H8M2 ABBA01034224;ABBA01034225;ABBA01034226;AC122719;AK023503;AK024392;AK026830;AK125518;AK297573;AK299157;AK301987;AL833925;AMYH02010757;AW151055;AY211916;AY358630;BC007217;BC041590;BX648703;CH471102;DQ248311;NM_001009877;NM_023924;NR_027633;XM_006714492;XM_006714493;XM_006714494;XR_427662 AAH41590;AAO65169;AAQ88993;ABB55266;ABZ92051;BAB14591;BAB14907;BAB15565;BAG59964;BAG61205;BAG63394;CAD38781;EAX08187;EAX08188;EAX08189;EAX08190;EAX08191;EAX08192;EAX08193;NP_001009877;NP_076413;Q9H8M2;XP_006714555;XP_006714556;XP_006714557 Hs.449278 1675999 RH80453 DKFZp434D0711;DKFZp686L0539;FLJ43530;LAVS3040;PRO9856 OTTHUMP00000214520;OTTHUMP00000214523;bromodomain-containing protein 9;rhabdomyosarcoma antigen MU-RMS-40.8;sarcoma antigen NY-SAR-29 protein-coding ENSG00000028310 HGNC:25818 12532 VALIDATED 1315431 BRDT bromodomain, testis-specific BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 1 1 1 p22.1 90661426 90726420 + 92414928 92479985 + 91949371 92014428 + 6480464;9586360;9479075;9586359;8554872 22016351;22035730;24686119 10365964;10704737;11076863;12477932;12861021;15489334;15647849;16344560;17690245;18029348;18654987;18976975;20378615;20379614;20538714;22505724;9367677 676 C9J0Z0;C9J1F7;C9JD82;C9JDL5;C9JJU3;C9JLZ2;C9JMP1;C9JQ27;F8VZ63;F8W0H2;Q58F21 ABBA01045554;ABBA01045555;ABBA01045556;AC114486;AF019085;AK302758;AK303008;AK316442;AMYH02001472;AMYH02001473;AMYH02001474;AMYH02001475;AY338951;BC005281;BC017582;BC028126;BC038844;BC047900;BC062700;BG717291;BX648135;CH471097;DB072781;DC401352;DC402057;NM_001242805;NM_001242806;NM_001242807;NM_001242808;NM_001242810;NM_001726;NM_207189;XM_005271151;XM_006710853;XM_006710854;XM_006710855;XM_006710856;XM_006710857;XM_006710858 AAB87862;AAH05281;AAH17582;AAH47900;AAH62700;AAI11928;AAI18499;AAQ16198;BAH13797;BAH13876;BAH14813;EAW73106;EAW73107;EAW73108;EAW73109;EAW73110;EAW73111;NP_001229734;NP_001229735;NP_001229736;NP_001229737;NP_001229739;NP_001717;NP_997072;Q58F21;XP_005271208;XP_006710916;XP_006710917;XP_006710918;XP_006710919;XP_006710920;XP_006710921 Hs.482520 1693244 AL033575 BRD6;CT9 OTTHUMP00000011809;OTTHUMP00000011810;OTTHUMP00000197577;RING3-like protein;bromodomain testis-specific protein;cancer/testis antigen 9 APPROVED protein-coding ENSG00000137948 HGNC:1105 03684 602144 REVIEWED 1315939 BRD8 bromodomain containing 8 The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014] 5 5 5 q31 133596763 133635647 - 137475455 137514358 - 138139766 138178669 - 6480464;9587763;9495926 19787264;21502417 10517671;11161817;11230166;12477932;12963728;14966270;15070733;15196461;15302935;15489334;15647280;15949438;16387653;16571680;16964243;17081983;17573780;18029348;19471022;19553677;20051959;20308539;20332121;20360068;20946988;21139048;21693764;23064015;23667531;24654937;24816145;25027693;8125298;8611617;9368056 10902 B4DN43;B5MCW3;C9JV05;D6RID0;F8WBH2;F8WCS7;F8WDX5;H0Y8F9;H0YA84;H0YAH7;H7C026;H7C127;H7C128;H7C179;H7C2P4;Q9H0E9 AB209079;ABBA01068692;AC109442;AC113382;AF016270;AK225928;AK289951;AK293621;AK297608;AK297756;AK310380;AK312333;AL136823;AL704983;AMYH02012283;AMYH02012284;BC008039;BC008076;BU187982;CH471062;NM_001164326;NM_001300961;NM_001300962;NM_001300966;NM_006696;NM_139199;X87613;X94234;XM_005271855;XM_005271856;XM_005271857;XM_005271859;XM_005271860;XM_005271861;XM_005271864;XM_005271865;XM_006714524;XM_006714525;XR_427701 AAB87858;AAH08039;AAH08076;BAD92316;BAF82640;BAG35254;BAG57080;BAG59991;BAG60105;CAA60949;CAA63925;CAB66757;EAW62159;EAW62160;EAW62161;EAW62162;NP_001157798;NP_001287890;NP_001287891;NP_001287895;NP_006687;NP_631938;Q9H0E9;XP_005271912;XP_005271913;XP_005271914;XP_005271916;XP_005271917;XP_005271918;XP_005271921;XP_005271922;XP_006714587;XP_006714588 Hs.519337 1655110;1655112;1681107;1754007;2107897;2115125;5022651 A006J23;BRD8_7982;D11S2921;D5S2603;G20870;RH99254;SHGC-132052 SMAP;SMAP2;p120 OTTHUMP00000159491;OTTHUMP00000197553;OTTHUMP00000197554;OTTHUMP00000197555;OTTHUMP00000197556;OTTHUMP00000197557;bromodomain-containing protein 8;skeletal muscle abundant protein 2;thyroid hormone receptor coactivating protein of 120 kDa;trCP120 APPROVED protein-coding ENSG00000112983 HGNC:19874 04166 602848 REVIEWED 3322052 BRD7P5 bromodomain containing 7 pseudogene 5 13 13 13 q32.1 76257655 76259476 - 95409564 95411671 - 94757310 94759417 - 100129259 ABBA01027204;AL137061;AMYH02028507;NG_009642 pseudo HGNC:37631 INFERRED 6769959 BRE-AS1 BRE antisense RNA 1 2 2 2 p23 27957341 27958999 - 28112323 28113981 - 27889456 27891114 - 12477932;16344560;17113583 100302650 ABBA01045223;AC021171;AMYH02003485;AW080339;BC014088;DA582634;DR978411;DR980668;NR_028308 Hs.729719 APPROVED ncrna HGNC:44171 VALIDATED 2801633 BRD7P6 bromodomain containing 7 pseudogene 6 2 2 2 p13.3 70419904 70433726 + 70569227 70583050 + 70342095 70355918 + 100128042 ABBA01075536;AC022201;AMYH02004039;NG_016161 pseudo HGNC:37632 INFERRED 1343026 BRE brain and reproductive organ-expressed (TNFRSF1A modulator) ENCODES a protein that exhibits polyubiquitin binding; tumor necrosis factor receptor binding; INVOLVED IN cellular response to DNA damage stimulus; double-strand break repair; positive regulation of DNA repair; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN BRCA1-A complex; BRISC complex; cytoplasm; INTERACTS WITH 1-fluoro-2,4-dinitrobenzene; 17beta-estradiol; 4-(ethoxymethylene)-2-phenyloxazol-5-one 2 2 2 p23.2 27958500 28406802 + 28113482 28561768 + 27890615 28338901 + 1580863;6480464;8554872 11259452;11676476;12477932;12938929;14636569;14702039;15465831;15489334;15582573;16189514;16196087;16713569;17353931;17525341;17704801;18029348;18756325;19015238;19214193;19261746;19261748;19261749;19380743;19615732;19757177;20035718;20379614;20656689;20861917;20972266;21139048;21282113;21577200;21890473;21906983;21937695;21963094;21987572;22505724;22555662;22689573;22797925;22863883;22990118;23128233;23211528;23966867;24816145;7826398;9737713 9577 C9J2G0;F8W733;Q9NXR7 ABBA01045223;ABBA01045224;ABBA01045225;ABBA01045226;ABBA01045227;ABBA01045228;AC021171;AC093690;AC096552;AC104695;AF015767;AF420602;AF420603;AF420604;AF420605;AK000097;AK098345;AK123076;AK291086;AL566299;AMYH02003485;AMYH02003486;AMYH02003487;AMYH02003488;AMYH02003489;AMYH02003490;AMYH02003491;AMYH02003492;AMYH02003493;AMYH02003494;AY438031;BC001251;BG422104;BG422293;BI559404;BU172408;CH471053;CR994399;L38616;NM_001261840;NM_004899;NM_199191;NM_199192;NM_199193;NM_199194 AAA64231;AAB69387;AAH01251;AAL17814;AAL17816;AAL17817;AAL17818;AAR30499;AAX88935;AAY24156;ABM82190;ABM85377;BAA90943;BAC85532;BAF83775;EAX00542;EAX00543;EAX00544;EAX00545;EAX00546;EAX00547;EAX00548;NP_001248769;NP_004890;NP_954661;NP_954662;NP_954663;NP_954664;Q9NXR7 Hs.258314 1336633;1656230;1660900;1661498;1724079;1734864;1749975;2137288;2156198;2186804;2218316 BRE_4464;D2S1615E;D2S1980;D2S223;D2S2556;D2S2920;RH118779;RH48736;RH66226;RH70472;SHGC-111684 BRCC4;BRCC45 BRCA1-A complex subunit BRE;BRCA1/BRCA2-containing complex subunit 45;BRCA1/BRCA2-containing complex, subunit 4;OTTHUMP00000123504;OTTHUMP00000123505;OTTHUMP00000123506;OTTHUMP00000123507;OTTHUMP00000123508;brain and reproductive organ-expressed protein protein-coding ENSG00000158019 HGNC:1106 08498 610497 VALIDATED 1318806 BRF2 BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008] 8 8 8 p11.23 36652978 36659011 - 37701398 37707431 - 37843880 37849913 - 1580863;6480464;8554872 10330166;11040218;11121026;11483580;11564744;12477932;12621023;14702039;16227591;16344560;17353931;18700021;20668658;21906983;23550276;24144296 55290 E5RGF6;E5RGX1;Q9HAW0 AA496239;ABBA01023567;AC130304;AC138356;AF130058;AF206673;AF298153;AK001914;AK294337;AK315420;AMYH02017816;BC010648;CH471080;DA688249;NM_018310 AAG30222;AAG35486;AAG35669;AAH10648;ABZ92043;BAA91975;BAG37809;BAG57607;EAW63351;EAW63352;EAW63353;NP_060780;Q9HAW0 Hs.709301 1667471;2127573;2217078 BRF2_3601;SGC33756;SHGC-57648 BRF-2;BRFU;FLJ11052;TFIIIB50;hBRFU;hTFIIIB50 B-related factor 2;BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like;OTTHUMP00000225611;OTTHUMP00000225612;RNA polymerase III transcription initiation factor BRFU;transcription factor IIB- related factor, TFIIIB50;transcription factor IIIB 50 kDa subunit APPROVED protein-coding HGNC:17298 06115 607013 REVIEWED 1348808 BRI3BP BRI3 binding protein FOUND IN mitochondrion; INTERACTS WITH 17beta-estradiol; 2-methylcholine; copper atom 12 12 12 q24.31 125079837 125113892 + 125478194 125510349 + 124993648 125025803 + 1580863;6480464 11860200;12477932;14702039;15489334;17765869;17943721;19805454;21139048;21182205;21890473;24457600 140707 Q8IX35;Q8WY22 ABBA01060353;AC093719;AC122688;AF283671;AF284094;AF441865;AK055703;AMYH02027480;AMYH02027481;AMYH02027482;AMYH02027483;BC034525;CA488612;CH471054;NM_080626 AAH34525;AAL33003;AAL54382;AAN76689;EAW98470;EAW98471;NP_542193;Q8WY22 Hs.596464 1661598;1667020;1789104;2218318;5015861;5037552;7185938 BRI3BP_4465;D10S16;D8S2279;G65686;RH66758;STS-AA017225 BNAS1;HCCR-1;HCCR-2;HCCRBP-1;KG19 BRI3-binding protein;I3-binding protein;OTTHUMP00000239024;cervical cancer 1 proto-oncogene-binding protein KG19;cervical cancer oncogene binding protein protein-coding HGNC:14251 09829 615627 VALIDATED 2292094 BREA2 breast cancer estrogen-induced apoptosis 2 ASSOCIATED WITH Melanoma (inferred) 8 8 8 q24.3 141090217 141091515 + 144779285 144780583 + 143697115 143698413 + 8554872 12477932 286076 Q8NDL7 ABBA01005243;AC105219;AL833948;AMYH02018947;AY940073;BC132838;BC132840;CH471162;NR_015445 CAD38802;EAW82209 Hs.178095 ncrna 18592 VALIDATED 1626269 BRI3P2 brain protein I3 pseudogene 2 12 12 12 p12.1 30266976 30267353 - 25120061 25120438 - 24967127 24967504 - 441630 ABBA01068014;AC026310;AMYH02026215;NG_009662 pseudo HGNC:32543 INFERRED 1626266 BRI3P1 brain protein I3 pseudogene 1 1 1 1 p21.2 98935604 98936350 + 100678760 100679506 + 100213204 100213950 + 730010 ABBA01045444;AL445928;AMYH02001554;NG_009718;NG_011852 1703246 SGC31939 pseudo HGNC:33533 INFERRED 1322467 BRF1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011] 14 14 14 q 85728231 85815347 - 105675623 105781914 - 105209286 105315577 - 1580863;6480464;9586716;9479074;8554872 18456653;23642229 10330166;10373544;10523658;10921893;11809839;11997511;12016223;12066800;12198173;12477932;12711686;14702039;15489334;15538381;16713569;16982688;17043677;17081983;17369404;17499043;17877750;17968325;18326031;18700021;20154270;20211142;21044367;21106530;21693764;21832049;21832157;21890473;22139419;23314748;25015289;7624363;8943358;8943363;9169441;9171375 2972 A3KN61;B3KWA2;F8VQ19;F8VS45;F8VWT8;F8VWY1;F8VXJ4;F8W123;H0YIV6;Q3SYD7;Q92994;V9HVY2 ABBA01008866;ABBA01008867;ABBA01008868;ABBA01008869;ABBA01008870;ABBA01008871;ABBA01008872;AJ297406;AJ297407;AJ297408;AK096471;AK124665;AK125024;AK294899;AK295579;AL512355;AL540823;AMYH02029964;AMYH02029965;BC016743;BC071637;BC086856;BC103859;BC103860;BC103861;BC133655;BX440529;CH471061;EU668327;N91109;NG_029489;NM_001242786;NM_001242787;NM_001242788;NM_001242789;NM_001242790;NM_001519;NM_145685;U28838;U75276;XM_005267561;XM_005267563;XM_006720122;XM_006720123 AAB38876;AAC50170;AAH16743;AAH71637;AAH86856;AAI03860;AAI03861;AAI03862;AAI33656;ACF94480;BAC86024;BAG53298;BAG54064;BAG58477;BAH11919;CAC04512;CAC04513;CAC04514;EAW81906;EAW81907;EAW81908;EAW81909;EAW81910;EAW81911;EAW81912;NP_001229715;NP_001229716;NP_001229717;NP_001229718;NP_001229719;NP_001510;NP_663718;Q92994;XP_005267618;XP_005267620;XP_006720185;XP_006720186 Hs.424484 1712274;2117436;2120107;2159976;2165486;2173980;2217076 BRF1_3377;G35352;G35414;G35829;G54046;RH79138;SGC31908 BRF;BRF-1;FLJ42674;FLJ43034;GTF3B;HEL-S-76p;MGC105048;TAF3B2;TAF3C;TAFIII90;TF3B90;TFIIIB90;hBRF;hTFIIIB90 B - related factor 1;B-related factor 1;BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB;OTTHUMP00000028454;OTTHUMP00000163910;OTTHUMP00000243596;OTTHUMP00000243598;OTTHUMP00000243600;OTTHUMP00000243601;OTTHUMP00000243607;TATA box binding protein (TBP)-associated factor 3C;TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2;TATA box binding protein (TBP)-associated factor, RNA polymerase III, subunit 2;TATA box-binding protein-associated factor, RNA polymerase III, subunit 2;TBP - associated factor, RNA polymerase III, 90kD;epididymis secretory sperm binding protein Li 76p;general transcription factor IIIB, 90kD subunit;transcription factor IIIB 90 kDa subunit APPROVED protein-coding ENSG00000185024 HGNC:11551 05361 604902 REVIEWED 5686950 BRI3P3 brain protein I3 pseudogene 3 17 17 p11.2 17884503 17884884 - 17981189 17981570 - 100101554 ABBA01009742;AC087163;AMYH02033100;NG_032028 pseudo HGNC:32544 INFERRED 1602822 BRICD5 BRICHOS domain containing 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine 16 16 16 p13.3 2473671 2475428 - 2259254 2263541 - 2209253 2213540 - 8554872 12477932;17207965 283870 H3BV65;Q6PL45 ABBA01030269;AC009065;AMYH02031247;AY597811;BC039154;CH471112;DN992777;NM_182563;XM_005255263 AAH39154;AAT09004;ADQ31629;EAW85535;EAW85536;NP_872369;Q6PL45;XP_005255320 Hs.647399 1664128;1722265;1736574;2146291 D16S2568E;G60043;STS-W72364;WIAF-1628 C16orf79;MGC21830 BRICHOS domain-containing protein 5;BRICHOS domain-containing protein C16orf79;OTTHUMP00000159050;chromosome 16 open reading frame 79 APPROVED protein-coding HGNC:28309 14482 VALIDATED 1319388 BRI3 brain protein I3 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; copper(2+) sulfate 7 7 7 q21.3 92604881 92616177 + 97910972 97952972 + 98281659 98323430 + 1580863;6480464 11860200;12477932;14592447;15489334;15606899;16341674;16508092;17390049;18452648;19366692;20538055;23251661;8076819;9847074 25798 F5GXW6;I3L1V6;O95415 AB055977;ABBA01045731;AC004841;AC091654;AC093169;AC093799;AF041430;AF106966;AMYH02016328;BC018737;BC062370;BF108440;BF432881;BQ018487;BQ083249;CB054862;CB528682;CH236956;CH471091;HG500435;NM_001159491;NM_015379;XM_005250251;XM_005250252;XR_428172;XR_428173 AAD05167;AAF18565;AAH18737;AAH62370;ADR82701;BAB32785;EAW76713;EAW76714;EAW76715;NP_001152963;NP_056194;O95415;XP_005250308;XP_005250309 Hs.567438 1689771;1703246 RH79669;SGC31939 I3;RP11-307C18.1;pRGR2 OTTHUMP00000205442 protein-coding ENSG00000164713 HGNC:1109 16562 615628 VALIDATED 1606655 BRINP3 bone morphogenetic protein/retinoic acid inducible neural-specific 3 INVOLVED IN cellular response to retinoic acid (ortholog); negative regulation of mitotic cell cycle (ortholog); positive regulation of neuron differentiation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN dendrite (inferred); endoplasmic reticulum (inferred); extracellular region (inferred); INTERACTS WITH arsenite(3-); cyclosporin A; pirinixic acid 1 1 1 q31.1 163175438 163555389 - 190066792 190447534 - 190097662 190478404 - 6480464;8554872 12477932;15193423;15489334;16018821;16710414;17138656;17903301;18430236;19019082;19787213;20379614;20383335;20972266;22013132;22355820;22377736 339479 B1AMP1;Q76B58 AB111893;ABBA01027668;ABBA01027669;ABBA01027670;ABBA01027671;ABBA01027672;AK123024;AK123637;AK294365;AL354771;AL365402;AL391645;AMYH02002348;AMYH02002349;AMYH02002350;AMYH02002351;AMYH02002352;AMYH02002353;AMYH02002354;BC105052;BC105054;CH471067;NM_199051;U67037;XM_005245117;XM_005245118;XM_005245119;XM_005245120;XM_005245123 AAD09521;AAI05053;AAI05055;BAD04066;BAG53853;BAG53928;BAH11746;EAW91222;NP_950252;Q76B58;XP_005245174;XP_005245175;XP_005245176;XP_005245177;XP_005245180 Hs.65765 1337073;1662833;1691954;1693074;1693158;1719783;1723105;2134089;2138346;2180558;2184844 AL009522;AL009831;AL009942;AL033615;AL034265;AL034306;D1S1189;D1S1877E;D1S2151;RH123583;RH123739 DBCCR1L;DBCCR1L1;FAM5C;RP11-445K1.1 BMP/retinoic acid-inducible neural-specific protein 3;DBCCR1-like protein 1;OTTHUMP00000033554;family with sequence similarity 5, member C APPROVED protein-coding ENSG00000162670 HGNC:22393 16782 PROVISIONAL 1316979 BRIP1 BRCA1 interacting protein C-terminal helicase 1 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] 17 17 17 q22.2 58857566 59042100 - 59756547 59940920 - 61679186 61863559 - 1580863;1600525;6480464;7240710;8554872;8699517 11301010 11595410;11877378;11920628;12477932;12565990;12872252;14504288;14576433;14578343;14702039;14983014;15113441;15125843;15133502;15242590;15302935;15489334;15878853;16116421;16116423;16116424;16153896;16430786;16485136;17033622;17148452;17342202;17504528;17525340;17525341;17525342;17557904;17581638;17596542;17664283;18029348;18270339;18285836;18345034;18414782;18426915;18483852;18557994;18628483;18676680;18717574;18950845;18978354;19011769;19012493;19064565;19064572;19116388;19124506;19127258;19150983;19170196;19419957;19452558;19484476;19504183;19536649;19584272;19625176;19690177;19692168;19714462;19748364;19763819;19913121;19935797;20150366;20159462;20159562;20173781;20301425;20301575;20301753;20332657;20451671;20567916;20587610;20628086;20639400;20676667;20681793;20978114;21127055;21139048;21165771;21240188;21356067;21409391;21890473;21906983;21963094;21964575;22032289;22137763;22412018;22526901;22582397;22678362;22692731;22792074;22797925;22968820;23108394;23157317;23225146;23473757;23530059;23585894;23644138;24023788;24040146;24301948;24573678;24895130;24966277 83990 J3KS24;J3QKX0;J3QQP5;J3QSE8;Q9BX63 ABBA01035376;ABBA01035377;ABBA01035378;ABBA01035379;ABBA01035380;AC002994;AC005969;AC060798;AF360549;AK074713;AMYH02033744;AMYH02033745;AMYH02033746;AMYH02033747;AMYH02033748;BC101472;BC101474;CH471179;NG_007409;NM_032043 AAI01473;AAI01475;AAK38111;ADR83292;BAC11156;EAW51430;EAW51431;EAW51432;EAW51433;NP_114432;Q9BX63 Hs.128903 1690113;1710154;1783630;2218320;5014051;5015619;5015861;5015961;5016596;5021872;5022651;5037552;7185938 BRIP1_4466;D10S16;D11S2921;D11S3114;D15S1477;D8S2278;D8S2279;GDB:631802;RH92304;SHGC-172093;SHGC-82334;sY3084 BACH1;FANCJ;FLJ90232;MGC126521;MGC126523;OF ATP-dependent RNA helicase BRIP1;BRCA1-associated C-terminal helicase 1;BRCA1-binding helicase-like protein BACH1;BRCA1-interacting protein 1;BRCA1-interacting protein C-terminal helicase 1;BRCA1/BRCA2-associated helicase 1;Fanconi anemia group J protein APPROVED protein-coding HGNC:20473 05797 114480;605882;609054 REVIEWED 6480930 BRK1P2 BRICK1, SCAR/WAVE actin-nucleating complex subunit pseudogene 2 13 13 91675997 91676205 - 91023743 91023951 - 100874492 ABBA01027239;AL512659;AMYH02028470;NG_032391 pseudo HGNC:42021 INFERRED 1605645 BRINP2 bone morphogenetic protein/retinoic acid inducible neural-specific 2 INVOLVED IN cell cycle arrest (inferred); cellular response to retinoic acid (inferred); negative regulation of mitotic cell cycle (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 1 1 1 q24 150250704 150361628 + 177140058 177251558 + 177170922 177282422 + 6480464;8554872 11214970;12477932;14702039;15193423;15489334;16710414;18187620;20972266;8619474;9110174 57795 Q9C0B6 AB051534;AB161694;ABBA01027857;AF131833;AK098386;AK123336;AK296524;AL021398;AL022143;AL035289;AMYH02002201;AMYH02002202;BC028036;CH471067;KF455103;NM_021165;XM_005245379 AAD20055;AAH28036;BAB21838;BAC85583;BAD34946;BAG59155;CAA22893;EAW91009;NP_066988;Q9C0B6;XP_005245436 Hs.495918 1692982;1735088;2111998;2155555;2171063 AL034208;D1S1826E;D1S3663;SHGC-75941;WI-15575 DBCCR1L2;FAM5B;FLJ41342;KIAA1747;RP5-1026E2.1 BMP/retinoic acid-inducible neural-specific protein 2;DBCCR1-like protein 2;DBCCR1-like2;OTTHUMP00000032889;bone morphogenic protein/retinoic acid inducible neural-specific 2;family with sequence similarity 5, member B APPROVED protein-coding ENSG00000198797 HGNC:13746 13891 PROVISIONAL 1352437 BRK1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ENCODES a protein that exhibits protein complex binding; Rac GTPase binding; INVOLVED IN positive regulation of Arp2/3 complex-mediated actin nucleation; positive regulation of lamellipodium assembly; protein homotrimerization; PARTICIPATES IN platelet-derived growth factor signaling pathway; FOUND IN extracellular vesicular exosome; SCAR complex; lamellipodium (ortholog); INTERACTS WITH 17beta-estradiol; atrazine; cyclosporin A 3 3 3 p25.3 10093000 10104540 + 10157333 10168874 + 10115649 10127190 + 6480464;6484113 12181570;12477932;14695531;15048733;15489334;17311301;18560548;19576655;19764026;20861187;21890473;21900206;21906983;22505724;22863883;23000965;23939472;24250222;24680773;8605018;9463375 55845 Q8WUW1 ABBA01220540;AC034193;AF161418;AF220047;AK290580;AK312155;AMYH02006247;AMYH02006248;AY148219;AY148220;BC001067;BC007929;BC019303;BC061515;CH471055;NM_018462 AAF28978;AAF67640;AAH01067;AAH07929;AAH19303;AAN60161;AAN60162;ABM83882;ABM87202;ABW03861;BAF83269;BAG35089;EAW64060;EAW64061;NP_060932;Q8WUW1 Hs.649307 1672014;1685103;1772639 RH41855;RH78271;WI-14152 C3orf10;HSPC300;MDS027;hHBrk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog;Brk1-like;OTTHUMP00000230721;haematopoietic stem/progenitor cell protein 300;probable protein BRICK1;protein BRICK1 APPROVED protein-coding ENSG00000254999 HGNC:23057 12818 611183 VALIDATED 1352710 BRINP1 bone morphogenetic protein/retinoic acid inducible neural-specific 1 This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008] 9 9 9 q32-q33 92576710 92779541 - 121928907 122131739 - 119166630 119369461 - 1580863;6480464;8554872 10444335;10469456;11420708;12442002;12477932;14676191;14712213;15164053;15193422;15489334;15643521;15746151;16369496;17660530;18029348;18235501;18235502;18264085;19218236;19506219;19834503;20070850;20074560;20379614;20429629;21030595;21056897;21532573;21988832;22446626;22465953;23349863;23382074;23398316;24583282;7757816;9175739;9545632 1620 O60477 ABBA01016259;ABBA01016260;ABBA01016261;ABBA01016262;ABBA01016263;AC006239;AF027734;AK293501;AK293649;AL138894;AL353773;AMYH02021553;AMYH02021554;BC021560;BC065196;BC071702;CH471090;NM_014618;Z41452 AAC39691;AAH21560;AAH65196;AAH71702;BAG56986;BAG57101;EAW87455;EAW87456;NP_055433;O60477 Hs.532316 1338205;1643972;1671169;1708846;1723159;1723959;1739867;1761799;2142426;2151764;2183760 AFMa239ze1;D9S1141;D9S1753;D9S195;RH118929;RH123764;SHGC-145759;SHGC-81095;STS-Z41452;T16063;WI-13592 DBC1;DBCCR1;FAM5A BMP/retinoic acid-inducible neural-specific protein 1;OTTHUMP00000022751;OTTHUMP00000022752;bA574M5.1 (deleted in bladder cancer chromosome region candidate 1 (IB3089A));bone morphogenic protein/retinoic acid inducible neural-specific 1;deleted in bladder cancer 1;deleted in bladder cancer chromosome region candidate 1;deleted in bladder cancer protein 1 APPROVED protein-coding ENSG00000078725 HGNC:2687 04181 602865 VALIDATED 1605358 BRIX1 BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN ribosome biogenesis (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 5 5 5 p13.2 34798052 34808019 + 34915820 34925787 + 34915715 34925682 + 6480464 11790298;11843177;12477932;12777385;14702039;15489334;16169070;17353931;18029348;19454010;21110914;21139048;21145461;21900206;21907836;22586326;22797925;22939629;23398456;23602568;23667531;24457600;24778252;24816145 55299 Q8TDN6;Q9NUW4 ABBA01039263;AC026801;AF347667;AK001962;AK289610;AK303311;AK307492;AMYH02011153;AY364243;AY364244;BC001546;BC006014;BC036741;BX648902;CH471119;NM_018321 AAH01546;AAH06014;AAH36741;AAL83818;AAQ76802;AAQ76803;ABM83034;ABM86228;BAA92003;BAF82299;BAG64380;EAW55909;EAW55910;NP_060791;Q8TDN6 Hs.718510 1681452;1789989;2190551;2218738;5017817;5024761;5037552 BRIX__4467;BXDC2;D8S2279;EST25A6;RH36905;RH94085;csnprad1-pcr1-1 BRIX;BXDC2;FLJ11100 OTTHUMP00000221047;brix domain containing 2;brix domain-containing protein 2;ribosome biogenesis protein BRX1 homolog APPROVED protein-coding HGNC:24170 16563 VALIDATED 1314372 BRMS1L breast cancer metastasis-suppressor 1-like The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008] 14 14 14 q13.2 16159459 16205033 + 36295524 36341169 + 35826318 35871963 + 6480464 12477932;14702039;15451426;16387653;17207965;19471022;21890473;23752268 84312 F8VRR2;H0YHD0;Q5PSV4 AA836514;ABBA01061510;ABBA01061511;ABBA01061512;AK096496;AK297106;AK309431;AK310359;AK315424;AL162311;AMYH02029015;AY827074;BC006250;BU507838;CH471078;NM_032352;XM_005268128;XM_006720274;XM_006720275 AAH06250;AAV83797;ADQ32328;BAG37812;BAG53305;BAG59617;EAW65867;NP_115728;Q5PSV4;XP_005268185;XP_006720337;XP_006720338 Hs.525299 1770477;1783040;2163270;2176461 A007C23;G36155;HSCZPC082;SHGC-144194 BRMS1;MGC11296 BRMS1-homolog protein p40;BRMS1-like protein p40;OTTHUMP00000244013;OTTHUMP00000244020;breast cancer metastasis-suppressor 1;breast cancer metastasis-suppressor 1-like protein APPROVED protein-coding ENSG00000100916 HGNC:20512 16564 REVIEWED 1322310 BRMS1 breast cancer metastasis suppressor 1 This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 11 q13-q13.2 63424705 63432490 - 66104804 66112596 - 66337333 66345125 - 1580863;2289400;6480464 15592684 10850410;11774238;11822878;12414911;12477932;12650606;14581478;15168732;15451426;15489334;15705865;15867352;16169070;16449650;16712791;16919237;17000776;17085653;17227585;17854218;17896182;18211900;18276787;18470911;18502034;18533556;18543067;18566899;18664570;18841483;19052374;19111386;19165610;19307053;19405953;19609101;19621595;20083343;20830743;20935672;21056991;21258344;21355308;21726917;21737612;21827753;21832049;21906983;21926972;22085717;22200669;22239051;22927944;22931099;23167184;23269275;23390556;23500495;23643861;23744981;23752268;23771732;24596389;24642624;24984534;8889548 25855 E9PJF5;E9PPD1;G5E9I4;H0YCF7;Q9HCU9 ABBA01024083;AF147350;AF159141;AF281036;AI797564;AK310991;AK313773;AL050008;AMYH02024975;AP001107;BC009834;BM312965;BU734281;CB130346;CB529276;CH471076;CR457173;NM_001024957;NM_015399;XM_005273883 AAG00075;AAH09834;AAK69131;BAG36511;CAB43235;CAG33454;EAW74513;EAW74514;EAW74515;EAW74516;NP_001020128;NP_056214;Q9HCU9;XP_005273940 Hs.100426 1671534;1767608 STS-W44699;WI-20154 DKFZp564A063 OTTHUMP00000235056;OTTHUMP00000235057;OTTHUMP00000235060;OTTHUMP00000235062;breast cancer metastasis-suppressor 1 APPROVED protein-coding ENSG00000174744 HGNC:17262 05879 606259 REVIEWED 1606705 BROX BRO1 domain and CAAX motif containing FOUND IN extracellular vesicular exosome; INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 1 1 1 q41 196105074 196125277 + 222885906 222908529 + 222712553 222735196 + 6480464 11181995;12477932;14702039;17411337;18190528;19056867;19403673;19738201;21139048;21890473;21963094;22162750;23000965;24250222;24816145 148362 B7Z953;F5GXQ0;Q5VW32;Q5VW33 AB276123;ABBA01048046;AI243754;AI911339;AK025140;AK056983;AK098136;AK293974;AK304445;AK315930;AL392172;AL701416;AMYH02002750;BC053552;BC105293;BC113635;BC113637;BC143811;CH471100;DB504492;DC418391;NM_001288579;NM_001288580;NM_001288581;NM_144695;NR_109927;XM_005273065;XM_005273066;XM_005273069;XM_006711173 AAI13636;AAI13638;AAI43812;BAB71331;BAF56045;BAH11637;BAH14189;BAH14301;EAW93265;NP_001275508;NP_001275509;NP_001275510;NP_653296;Q5VW32;XP_005273122;XP_005273123;XP_005273126;XP_006711236 Hs.534965;Hs.552608;Hs.600844 1655041;1680507;1692738;1697254 AL034126;RH102121;RH98227;SHGC-76398 C1orf58;FLJ32421;MGC142195;MGC142197;RP11-452F19.1 BRO1 domain containing protein;BRO1 domain- and CAAX motif-containing protein;BRO1 domain-containing protein BROX;Bro1-domain-containing protein;OTTHUMP00000035772 APPROVED protein-coding ENSG00000162819 HGNC:26512 08725 VALIDATED 1315730 BRPF3 bromodomain and PHD finger containing, 3 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN histone H3 acetylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN MOZ/MORF histone acetyltransferase complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; atrazine 6 6 6 p21 37719088 37755105 + 36164408 36200567 + 36196631 36232790 + 1580863;6480464;8554872 10574462;12477932;14574404;14630798;16387653;17474147;18794358;19322201;6457647 27154 A8WI61;A8WI62;E9PI60;E9PJ12;E9PSF3;F6XDC4;H0Y7B4;H0Y7I6;Q9ULD4 AB033112;ABBA01038253;ABBA01038254;AK000751;AK025134;AK025224;AK074362;AK123574;AK172787;AMYH02013553;BC033652;BC039615;BC117387;BC143917;BC143918;BC143919;CH471081;NM_015695;XM_005249010;XM_005249011;XM_006715059;XM_006715060;XR_241886;XR_241887;Z84485 AAH33652;AAI17388;AAI43918;AAI43919;BAA86600;BAA91359;BAB85060;EAX03877;EAX03878;EAX03879;EAX03880;EAX03881;EAX03882;NP_056510;Q9ULD4;XP_005249067;XP_005249068;XP_006715122;XP_006715123 Hs.520096 2121786;2150407;2173206;2218322;5024545 BRPF3_4470;D1S3695;RH46861;SHGC-16533;STS-N66794 OTTHUMP00000016287;OTTHUMP00000197589;OTTHUMP00000232921;OTTHUMP00000232922;OTTHUMP00000232924;bromodomain and PHD finger-containing protein 3 protein-coding ENSG00000096070 HGNC:14256 16565 VALIDATED 1316705 BRPF1 bromodomain and PHD finger containing, 1 The protein encoded by this gene is expressed ubiquitously and at the highest level in testes and spermatogonia. The protein is localized within nuclei, and it is very similar in structure to two zinc finger proteins, AF10 and AF17. It is suggested that these proteins form a family of regulatory proteins. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p26-p25 9708138 9724401 + 9773413 9789699 + 9731729 9748015 + 1580863;6480464;8554872 12477932;15302935;16387653;17081983;18029348;18051367;18469222;18794358;19001415;19913121;20211142;20400950;20628086;21139048;21720545;24258712;24333487;7906940;8946209 7862 C9JDK5;C9JHC0;P55201 ABBA01020400;AC022382;AF176815;AI356310;AK293865;AL713696;AMYH02006236;BC036374;BC053851;BC068262;BG704575;CH471055;M91585;NM_001003694;NM_004634;XM_005265449;XM_005265450;XM_005265451;XM_005265452;XM_005265453;XM_005265454 AAB02119;AAF19605;AAH53851;BAG57257;CAD28495;EAW63972;EAW63973;EAW63974;EAW63975;EAW63976;NP_001003694;NP_004625;P55201;XP_005265506;XP_005265507;XP_005265508;XP_005265509;XP_005265510;XP_005265511 Hs.1004 2110283;2114556;2128183;2134251 BRPF1__4469;RH47297;SHGC-76698;STS-M91585 BR140 OTTHUMP00000122529;OTTHUMP00000207277;OTTHUMP00000207278;OTTHUMP00000207279;bromodomain and PHD finger-containing protein 1;bromodomain-containing protein, 140kD;peregrin APPROVED protein-coding ENSG00000156983 HGNC:14255 03875 602410 REVIEWED 1353238 BRSK1 BR serine/threonine kinase 1 ENCODES a protein that exhibits magnesium ion binding; protein serine/threonine kinase activity; tau-protein kinase activity; INVOLVED IN cellular response to DNA damage stimulus; protein phosphorylation; response to UV; FOUND IN cell junction; cytoplasm; nucleus; INTERACTS WITH atrazine; hydroquinone O-beta-D-glucopyranoside; kojic acid 19 19 19 q13.4 52836546 52864920 + 55793440 55823930 + 55284166 55312562 + 1580863;6480464 11347906;12477932;14976552;15150265;15489334;16306228;16630837;18029348;18254724;18339622;18854318;19448619;19448621;19648910;21988832;22131368;24250222 84446 J3KNK0;K7EM68;K7EN26;Q8TDC3 AB058714;ABBA01068109;ABBA01068110;ABBA01068111;AC008974;AC020922;AF479826;AF479827;AK124999;AL831945;AL834275;AMYH02036457;AMYH02036458;AY458602;AY505124;BC016681;CH471135;HQ830199;NM_032430;XM_005259327;XR_430213 AAH16681;AAL87697;AAL87698;AAS10354;AAS86442;ADX95745;BAB47440;BAG54120;CAD38595;CAD38950;EAW72359;EAW72360;EAW72361;NP_115806;Q8TDC3;XP_005259384 Hs.182081 2106923 20922ef FLJ43009;KIAA1811;hSAD1 BR serine/threonine-protein kinase 1;SAD1 homolog;SAD1 kinase;SadB kinase short isoform;brain-selective kinase 1;brain-specific serine/threonine-protein kinase 1;protein kinase SAD1A;serine/threonine-protein kinase BRSK1;serine/threonine-protein kinase SAD-B;synapses of Amphids Defective homolog 1 protein-coding ENSG00000160469 HGNC:18994 12533 609235 VALIDATED 733512 BRS3 bombesin-like receptor 3 The protein encoded by this gene is a G protein-coupled membrane receptor that binds bombesin-like peptides. This binding results in activation of a phosphatidylinositol-calcium second messenger system, with physiological effects including regulation of metabolic rate, glucose metabolism, and hypertension. [provided by RefSeq, Sep 2011] X X X q26.3 135933763 135938238 + 135564521 135575931 + 136482362 136493772 + 734661;1580863;6480464 9367152 12102638;15772651;16979789;17355223;17714959;19913121;20628086;21878513;22127929;23291341;24220502;24326363;8131855;8383682;8822519;9593699 680 P32247;Q9UQK4 ABBA01055912;AF117712;AMYH02040578;AY585193;CH471150;L08893;NM_001727;X76498;XM_005262464;XM_005262465;Z97632 AAA35604;AAD21615;AAI52939;AAT79496;CAA54031;EAW88470;NP_001718;P32247;XP_005262521;XP_005262522 Hs.121484 1657518;1683056;2219040 BRS3_3941;RH79932;STS-L08893 BB3;BRS-3 G-protein coupled receptor;OTTHUMP00000024342;bombesin receptor subtype 3;bombesin receptor subtype-3 APPROVED protein-coding ENSG00000102239 HGNC:1113 02116 300107 REVIEWED 6481300 BRWD1-AS1 BRWD1 antisense RNA 1 21 21 40687633 40695144 + 39315707 39323218 + 16344560 100874093 ABBA01009343;ABBA01009344;AF064861;AMYH02037827;DB057251;HG511823;NR_046655 Hs.588102 2203094 stSG622696 AF064861.94 APPROVED ncrna ENSG00000238141 HGNC:40614 PREDICTED 1345228 BRSK2 BR serine/threonine kinase 2 ENCODES a protein that exhibits ATP binding; magnesium ion binding; protein serine/threonine kinase activity; INVOLVED IN actin cytoskeleton reorganization; G2/M transition of mitotic cell cycle; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; FOUND IN centrosome; cytoplasm; INTERACTS WITH all-trans-retinoic acid; atrazine; valproic acid 11 11 11 p15.5 1444570 1515142 + 1411129 1483919 + 1389899 1462689 + 6480464 11124703;12477932;14702039;14976552;15150265;15489334;16165222;16306228;16344560;16630837;16870137;18254724;18339622;18794342;18854318;20562859;20646422;22609399;22713462;22798068;23029325;23907667;24047693;24429156;9852686;9929968 9024 B4DLY3;B4DM60;E9PPI2;E9PRY3;H0YCS6;H0YES6;Q8IWQ3 ABBA01012142;ABBA01012143;ABBA01012144;AC091196;AC136297;AF020089;AF533876;AF533877;AF533878;AF533879;AF533880;AJ006701;AK074411;AK122851;AK123356;AK131534;AK297211;AK297306;AMYH02024168;AMYH02024169;AMYH02024170;AY166857;AY505125;BC017182;BC024291;BG395884;CH471158;DA059153;DR001379;KC877383;NM_001256627;NM_001256629;NM_001256630;NM_001282218;NM_003957;NR_046331;XM_005253218;XM_005253220;XM_006718374;XM_006718375;XM_006718376;XM_006718377;XM_006718378;XM_006718379;XR_242831;XR_428859;XR_428860;XR_428861 AAD09654;AAH24291;AAI52770;AAN87839;AAP97723;AAP97724;AAP97725;AAP97726;AAP97727;AAS86443;BAC85593;BAD18671;BAG53761;BAG59695;BAG59772;CAA07196;EAX02436;EAX02437;EAX02438;EAX02439;EAX02440;EAX02441;EAX02442;EAX02443;EAX02444;NP_001243556;NP_001243558;NP_001243559;NP_001269147;NP_003948;Q8IWQ3;XP_005253275;XP_005253277;XP_006718437;XP_006718438;XP_006718439;XP_006718440;XP_006718441;XP_006718442 Hs.170819 1687173;1757719 RH91860;SHGC-146355 C11orf7;FLJ41362;PEN11B;SAD1;SADA;STK29 BR serine/threonine-protein kinase 2;OTTHUMP00000235105;OTTHUMP00000235106;OTTHUMP00000235107;OTTHUMP00000235108;OTTHUMP00000235109;OTTHUMP00000235112;OTTHUMP00000235113;brain-selective kinase 2;brain-specific serine/threonine-protein kinase 2;protein kinase SAD1B;serine/threonine kinase 29;serine/threonine kinase SAD-A;serine/threonine-protein kinase 29;serine/threonine-protein kinase BRSK2;serine/threonine-protein kinase SAD-A protein-coding ENSG00000174672 HGNC:11405 609236 VALIDATED 1345843 BRWD1-IT2 BRWD1 intronic transcript 2 (non-protein coding) INTERACTS WITH 3-methylcholanthrene; doxorubicin 21 21 21 q22.2 25883492 25884519 - 40685861 40686888 - 39313935 39314962 - 6480464 12036297;12477932;20494980 257357 P59051 ABBA01009344;AF064861;AF426265;AMYH02037827;AW000939;BC130301;BC130303;BM553164;CH471079;NG_029919;NR_033800 AAI30302;AAI30304;AAM53521;EAX09662;EAX09663;P59051 Hs.729612 1701576;1825080;1827686;1827824;1832586;1898586;1898588;1898590;1898592;1898594;1898596;1898598;1898600;1898602;1898604;1898606;2203092 ECD13641;ECD14964;ECD15035;ECD17433;REN20089;REN20090;REN20091;REN20092;REN20093;REN20094;REN20095;REN20096;REN20097;REN20098;REN20099;RH104422;stSG622695 C21orf87;NCRNA00257 APPROVED ncrna ENSG00000255568 HGNC:16423 VALIDATED 1354337 BRWD3 bromodomain and WD repeat domain containing 3 The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, May 2010] X X X q21.1 80165105 80305366 - 79924987 80065233 - 80669488 80809734 - 6480464;7240710;8554872;8699517 12477932;14702039;15489334;15543602;15772651;16094372;17081983;17668385;18775313;19377476;21890473;22024541 254065 Q6RI45 AA716141;ABBA01049135;ABBA01049136;ABBA01049137;ABBA01049138;ABBA01049139;ABBA01049140;ABBA01049141;ABBA01049142;ABBA01049143;ABBA01049144;ABBA01049145;ABBA01049146;ABBA01049147;AK090573;AK095887;AL512504;AL590031;AL669934;AMYH02039843;AMYH02039844;AMYH02039845;AMYH02039846;AMYH02039847;AMYH02039848;AY497046;AY497047;AY497048;AY497049;AY497050;AY497051;AY497052;AY497053;AY497054;AY497055;AY497056;AY497057;AY497058;AY497059;AY497060;BC039508;BC111490;BI825932;CB269573;NG_021349;NM_153252;XM_005262113;XM_005262115;XM_006724638;XR_430519 AAI11491;AAS45471;AAS45472;AAS45473;AAS45474;AAS45475;AAS45476;AAS45477;AAS45478;AAS45479;AAS45480;AAS45481;AAS45482;AAS45483;AAS45484;AAS45485;BAC04641;NP_694984;Q6RI45;XP_005262170;XP_005262172;XP_006724701 Hs.147027;Hs.613180 1683944;1766957;2109091 BRODL__4276;RH38736;SHGC-152486 BRODL;FLJ33254;FLJ38568;MRX93 OTTHUMP00000023606;bromo domain-containing protein disrupted in leukemia;bromodomain and WD repeat-containing protein 3;novel WD repeat domain protein APPROVED protein-coding ENSG00000165288 HGNC:17342 06564 300553;300659 REVIEWED 1317732 BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011] 11 11 11 q13 59786117 59805403 - 62457734 62477091 - 62690262 62709619 - 1600600;1600602;1600601;1580863;6480464;7240710;8554872;8699517 11479539;12584444;13680364 11389484;12477932;14602785;14702039;14981520;15126564;15181077;15342556;15489334;15732094;16189514;16341674;16344560;16427281;16435205;17387721;17420921;17486577;17535271;17663003;18093937;18155601;18224579;18250201;18458148;18585921;18612770;18690553;18698612;19226263;19252810;19278620;19323790;19396477;19438831;19574402;19762912;20301391;20301420;20301484;20301682;20598714;20806400;21750110;21906983;21957196;22234369;22427291;22474068;22505724;23088713;23142943;23470542;23553728;23564749;23659685;23907395;23989774;24778225;24961962;25027693;8125298;8619474;9110174 26580 E9PIU3;E9PJK0;E9PJS9;E9PPN5;E9PR78;E9PRU2;E9PSB5;F8W7Q8;F8WER0;H0YF20;H7BXM1;H7BYY0;H7C2D5;J3KQ12;Q96G97 ABBA01003238;ABBA01003239;ABBA01003240;AF052149;AK027524;AK075317;AK223606;AK225029;AK315423;AMYH02024896;AMYH02024897;AP001458;BC004911;BC009866;BC012140;BC041640;BC093048;BG699373;BM763152;BP370169;CD107822;CH471076;CQ783924;CS072299;DB178846;DB296305;NG_008461;NM_001122955;NM_001130702;NM_032667;NR_037948;NR_037949 AAH04911;AAH12140;AAH41640;AAH93048;ABM84409;ABW03570;BAB55175;BAC11543;BAD97326;CAF86927;CAI93437;EAW74070;EAW74071;EAW74072;EAW74073;EAW74074;EAW74075;EAW74076;EAW74077;EAW74078;EAW74080;EAW74081;NP_001116427;NP_001124174;NP_116056;Q96G97 Hs.533709 1298330;1335673;1739963;2127309;2139350;2167540;2178463;5106097;7187871 D11S1084;D11S1765;D11S4063;D11S4928;D11S987;Gng3;RH12527;RH12537 FLJ16651;GNG3LG;HMN5;MGC4694;PELD;SPG17 Bernardinelli-Seip congenital lipodystrophy 2 (seipin);OTTHUMP00000198002;OTTHUMP00000198004;OTTHUMP00000198005;OTTHUMP00000198006;OTTHUMP00000198007;OTTHUMP00000198008;OTTHUMP00000198009;OTTHUMP00000198013;bernardinelli-Seip congenital lipodystrophy type 2 protein;seipin APPROVED protein-coding ENSG00000168000 HGNC:15832 05858 269700;270685;600794;606158;615924 REVIEWED 5144472 BSN-AS2 BSN antisense RNA 2 (head to head) 3 3 3 p21.31 49555614 49556380 - 49586739 49591799 - 49549306 49554366 - 14702039 100132677 Q8N8P4 ABBA01024582;AC104452;AK096387;AK097709;AMYH02006752;HG495662;NR_038866 BAC04774 Hs.435651 5020946;5037552;5118444 D11S3316;D8S2279;L17971 FLJ39068;FLJ40390;RP11-949J7.7 APPROVED ncrna ENSG00000226913 HGNC:42445 VALIDATED 1605672 BSDC1 BSD domain containing 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; actinomycin D; cobalt dichloride 1 1 1 p35.1 31101180 31130531 - 32830704 32860062 - 32365103 32394461 - 6480464;8554872 12477932;12975309;14702039;15146197;15203218;15342556;15489334;16169070;16341674;16710414;20360068;21139048;21915095;8125298 55108 B4DM89;E9PNA9;E9PQA7;E9PS77;F8W6C6;Q9NW68 ABBA01023427;ABBA01023428;AK001138;AK021440;AK225026;AK225717;AK293454;AK297352;AK297604;AK300231;AK300306;AK304477;AK316172;AL109945;AMYH02000710;AMYH02000711;AY358230;BC010573;BC026322;BC028381;BM760887;BM995122;BP363955;BQ222609;BQ721446;BX505149;BX641056;CD628901;CH471059;CN302967;CR457252;CR749228;DA573011;DB159029;DB213122;NM_001143888;NM_001143889;NM_001143890;NM_001300958;NM_018045;NR_125352;XM_005270985;XM_005270986 AAH26322;AAH28381;AAQ88597;ACE86967;ACE87657;BAA91517;BAB13825;BAG56950;BAG59801;BAG59989;BAG61999;BAG62059;BAG65290;BAH14543;CAE46029;CAG33533;CAH18084;EAX07525;EAX07526;EAX07527;EAX07528;EAX07529;EAX07530;NP_001137360;NP_001137361;NP_001137362;NP_001287887;NP_060515;Q9NW68;XP_005271042;XP_005271043 Hs.353454 1694434;1768674;2127204;2132824;2145434;2145589;2154653;2162972;5093068 A007F44;A009F08;G32500;G42922;RH16033;RH41796;RH64707;SHGC-74479;SHGC-74531 DKFZp686B09139;FLJ10276;RP4-811H24.7 BSD domain-containing protein 1;OTTHUMP00000008867;OTTHUMP00000008869;OTTHUMP00000211102;OTTHUMP00000232914;OTTHUMP00000232915;OTTHUMP00000232916 protein-coding ENSG00000160058 HGNC:25501 07658 VALIDATED 2306586 BSPH1 binder of sperm protein homolog 1 ENCODES a protein that exhibits heparin binding (inferred); INVOLVED IN single fertilization (inferred); sperm capacitation (inferred); FOUND IN cell surface (inferred); extracellular region (inferred) 19 19 19 q13.33 45336802 45361003 - 48471303 48495427 - 47968046 47992170 - 15057824;17085770;18923155;19091820 100131137 Q075Z2 ABBA01033020;ABBA01033021;AC010330;AMYH02036279;AMYH02036280;DQ227497;NM_001128326;XM_005258394;XM_006722959 ABB71591;NP_001121798;Q075Z2;XP_005258451;XP_006723022 Hs.651072 BSP1;ELSPBP2 binder of sperm 1;bovine seminal plasma protein homolog 1;bovine seminal plasma protein-like 1;epididymal sperm binding protein 2 protein-coding ENSG00000188334 HGNC:33906 612213 VALIDATED 735544 BSN bassoon presynaptic cytomatrix protein Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 49556534 49673679 + 49591922 49708982 + 49554489 49671551 + 1580863;6480464;8554872 10329005;12477932;12628169;14734538;15217342;16751776;17554261;17554300;17620599;18029348;19165527;19367581;19422935;19567891;19657358;19812333;19915572;20024904;20307617;20846217;21092860;21092861;21102463;21297633;21700703;21906983;23128233;9455477;9679147;9806829 8927 Q9UPA5 AB007894;ABBA01024577;ABBA01024578;ABBA01024579;ABBA01024580;ABBA01024581;AC099668;AC104452;AF052224;AMYH02006753;AMYH02006754;AMYH02006755;AMYH02006756;AW131629;CH471055;NG_015892;NM_003458;XM_006713380;Y18448;Y18449;Y18450;Y18451;Y18452 AAC83555;BAA23707;CAA77176;EAW64992;EAW64993;NP_003449;Q9UPA5;XP_006713443 Hs.194684 1341798;2123049;2127855 D3S2456;D3S3133;G35047 ZNF231 OTTHUMP00000165198;bassoon (presynaptic cytomatrix protein);neuronal double zinc finger protein;protein bassoon;zinc finger protein 231 APPROVED protein-coding ENSG00000164061 HGNC:1117 04933 604020 REVIEWED 1347567 BSPRY B-box and SPRY domain containing ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN calcium ion transport (inferred); FOUND IN cell leading edge (inferred); membrane (inferred); perinuclear region of cytoplasm (inferred); INTERACTS WITH atrazine; formaldehyde; silicon dioxide 9 9 9 q32 86759422 86781124 + 116111812 116133513 + 113349532 113371233 + 6480464 10978534;11099500;12477932;12615066;14702039;15164053;15489334;18029348;19929093 54836 Q5W0U4 ABBA01042687;ABBA01042688;AJ276691;AK000157;AK092607;AL137066;AMYH02021509;BC001477;BX462607;CH471090;EL954585;NM_017688;W44700;XM_005252062;XM_005252063;XM_006717149 AAH01477;BAA90980;BAG52581;CAC09324;EAW87374;NP_060158;Q5W0U4;XP_005252119;XP_005252120;XP_006717212 Hs.614517 1337499;1648971;1649771 D7S647;RH35922;SHGC-34969 FLJ20150 B box and SPRY domain-containing protein;B-box and SPRY-domain containing protein;OTTHUMP00000022728;zetin 1 protein-coding ENSG00000119411 HGNC:18232 16566 VALIDATED 1345101 BRWD1 bromodomain and WD repeat domain containing 1 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] 21 21 21 q22.2 25755073 25883187 - 40556102 40685745 - 39184176 39313819 - 6480464;8554872 10830953;12359327;12477932;12889071;14702039;15840729;16344560;16780588;16964240;18029348;18775313;19471022;20014019;20379614;21139048;21145461;21832049;21890473;22365631;25011449;8889548;9480850 54014 H0Y463;H0Y4A7;H0Y4R9;H0Y500;H0Y5I9;H7BZR9;H7C409;Q9NSI6 AA807344;AB080586;AB080587;AB080588;AB080589;AB080590;AB080591;AB080592;AB080593;ABBA01009344;ABBA01009345;ABBA01009346;ABBA01009347;ABBA01009348;AF064861;AF129408;AI307266;AJ002572;AJ002574;AJ222635;AJ222636;AJ238214;AJ238555;AJ238556;AJ238573;AJ292465;AJ292466;AK002177;AK125906;AL109785;AL109786;AL162036;AL163279;AL558272;AMYH02037824;AMYH02037825;AMYH02037826;AMYH02037827;AU139205;BC031545;BC047058;BC064602;BC142986;BI914338;BP397411;BQ930702;CA503340;CH471079;DA792365;KF457303;KF457305;NG_029919;NM_001007246;NM_018963;NM_033656;XM_005260994 AAH64602;AAI40080;AAI42987;BAD74071;BAD74072;BAD74073;BAD74074;BAD74075;BAD74076;BAD74077;BAD74078;CAA10896;CAB90452;CAC37033;CAC44371;CAC44372;EAX09657;EAX09658;EAX09659;EAX09660;EAX09661;NP_001007247;NP_061836;NP_387505;Q9NSI6;XP_005261051 Hs.627139;Hs.654740 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N19985;REN19986;REN19987;REN19988;REN19989;REN19990;REN19991;REN19992;REN19993;REN19994;REN19995;REN19996;REN19997;REN19998;REN19999;REN20000;REN20001;REN20002;REN20003;REN20004;REN20005;REN20006;REN20007;REN20008;REN20009;REN20010;REN20011;REN20012;REN20013;REN20014;REN20015;REN20016;REN20017;REN20018;REN20019;REN20020;REN20021;REN20022;REN20023;REN20024;REN20025;REN20026;REN20027;REN20028;REN20029;REN20030;REN20031;REN20032;REN20033;REN20034;REN20035;REN20036;REN20037;REN20038;REN20039;REN20040;REN20041;REN20042;REN20043;REN20044;REN20045;REN20046;REN20047;REN20048;REN20049;REN20050;REN20051;REN20052;REN20053;REN20054;REN20055;REN20056;REN20057;REN20058;REN20059;REN20060;REN20061;REN20062;REN20063;REN20064;REN20065;REN20066;REN20067;REN20068;REN20069;REN20070;REN20071;REN20072;REN20073;REN20074;REN20075;REN20076;REN20077;REN20078;REN20079;REN20080;REN20081;REN20082;REN20083;REN20084;REN20085;REN20086;REN20087;REN20088;REN20089;REN20090;REN20091;REN20092;REN20093;REN20094;RH104422;RH65270;RH66958;RH78619;SHGC-30753;SHGC-51888;SHGC-87637;SHGC-87640;STS-R31946;WI-21887;stSG622591;stSG622592;stSG622593;stSG622594;stSG622595;stSG622596;stSG622597;stSG622598;stSG622599;stSG622600;stSG622601;stSG622602;stSG622603;stSG622604;stSG622605;stSG622606;stSG622607;stSG622608;stSG622609;stSG622610;stSG622611;stSG622612;stSG622613;stSG622614;stSG622615;stSG622616;stSG622617;stSG622618;stSG622619;stSG622620;stSG622621;stSG622622;stSG622623;stSG622624;stSG622625;stSG622626;stSG622627;stSG622628;stSG622629;stSG622630;stSG622631;stSG622632;stSG622633;stSG622634;stSG622635;stSG622636;stSG622637;stSG622638;stSG622639;stSG622640;stSG622641;stSG622642;stSG622643;stSG622644;stSG622645;stSG622646;stSG622647;stSG622648;stSG622649;stSG622650;stSG622651;stSG622652;stSG622653;stSG622654;stSG622655;stSG622656;stSG622657;stSG622658;stSG622659;stSG622660;stSG622661;stSG622662;stSG622663;stSG622664;stSG622665;stSG622666;stSG622667;stSG622668;stSG622669;stSG622670;stSG622671;stSG622672;stSG622673;stSG622674;stSG622675;stSG622676;stSG622677;stSG622678;stSG622679;stSG622680;stSG622681;stSG622682;stSG622683;stSG622684;stSG622685;stSG622686;stSG622687;stSG622688;stSG622689;stSG622690;stSG622691;stSG622692 C21orf107;FLJ43918;N143;WDR9 OTTHUMP00000068796;OTTHUMP00000068797;OTTHUMP00000068928;OTTHUMP00000207967;WD repeat protein WDR9-form2;WD repeat-containing protein 9;bromodomain and WD repeat-containing protein 1;cAMP response element binding and beta-tranducin family-like;transcriptional unit N143 APPROVED protein-coding ENSG00000185658 HGNC:12760 11683 REVIEWED 1342632 BST1 bone marrow stromal cell antigen 1 Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008] 4 4 4 p15 16169208 16198432 + 15704573 15741121 + 15702950 15739498 + 1580863;6480464;6907045;8554872 10599889;11439087;11602246;11866528;12415565;12477932;15328157;15489334;15815621;16335952;16344560;18211745;19052657;19915576;20639476;20697102;20711177;21044948;21084426;21248740;21292315;21478153;21988832;22451204;22490479;22916288;23026536;23820587;23827523;23853107;24413464;24753259;24795584;8202488;8630113;8645283;8889548;8941363;9030974 683 A6NC48;H0Y8G4;H0Y984;H0Y9Q9;Q10588 AB175627;ABBA01032572;AC005798;AC114744;AK312497;AMYH02008801;AMYH02008802;BC012095;BT019502;BU732655;CH471069;D21878;DA382561;NM_004334;XM_005248184;XM_005248185;XM_005248186 AAH12095;AAV38309;AAY40930;BAA04885;BAE92566;BAG35399;EAW92744;NP_004325;Q10588;XP_005248241;XP_005248242;XP_005248243 Hs.720344 1852460;2178676;2178678;2217080;5125864 BST1_2659;RH17388;RH36393;SHGC-35585;SHGC-50363 BST-1;CD157 ADP-ribosyl cyclase 2;ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2;NAD(+) nucleosidase;OTTHUMP00000123364;OTTHUMP00000123365;OTTHUMP00000217617;bone marrow stromal antigen 1;cADPr hydrolase 2;cyclic ADP-ribose hydrolase 2 APPROVED protein-coding ENSG00000109743 HGNC:1118 02665 600387 VALIDATED 1346555 BST2 bone marrow stromal cell antigen 2 Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 17415480 17418112 - 17502238 17516458 - 17402939 17405648 - 1580863;6480464;8554872 10329429;12477932;12761501;15489334;16157322;16602701;18029348;18200009;18200012;18342597;18468560;18541215;18653459;18789977;19032371;19036818;19056867;19091864;19149577;19149995;19196977;19214216;19244337;19273615;19286130;19286137;19305418;19338666;19359243;19436700;19461879;19474106;19478868;19490609;19501037;19515779;19564354;19605472;19694548;19730691;19737401;19740980;19742323;19837671;19864625;19879831;19879838;19917491;19917496;19929170;19946888;20012522;20015985;20019814;20078884;20126395;20140192;20147389;20147395;20147723;20167081;20179761;20201792;20221443;20237496;20329562;20386718;20399176;20419159;20434978;20444895;20444900;20485522;20529266;20571604;20585562;20628624;20636339;20638642;20686043;20688520;20702620;20708210;20798829;20850859;20858517;20861257;20861258;20880831;20920359;20926557;20940320;20980512;21068238;21084286;21094940;21176220;21184674;21191020;21209114;21222046;21237475;21238941;21238946;21304933;21310048;21490095;21504576;21529378;21601230;21607084;21610122;21621240;21625568;21645334;21674066;21687426;21741003;21757214;21775449;21775465;21796732;21808013;21813615;21849457;21874899;21900423;21902775;21918813;21922073;21937450;21940748;21955466;21963094;21988832;21994665;21994744;21994772;22072710;22072961;22072966;22090135;22103835;22110710;22130541;22171785;22180752;22194693;22222210;22264038;22286874;22291694;22301143;22315404;22357275;22383521;22398279;22405001;22421880;22479182;22479480;22493439;22509177;22520941;22524175;22524176;22524177;22524178;22524179;22524180;22524181;22530020;22533470;22553496;22647704;22667354;22811908;22855686;22952667;22980332;22980333;22999946;23028328;23043100;23047007;23047923;23077864;23148293;23152502;23159053;23188559;23201263;23221546;23223624;23240078;23260108;23284757;23303646;23308067;23311681;23367562;23378022;23401591;23408603;23411007;23422647;23468424;23514615;23528733;23555649;23582304;23613843;23633949;23825473;23831603;23840623;23874200;23916489;23919512;23937976;23966385;24035804;24036078;24066097;24067975;24067977;24075872;24086611;24257748;24418563;24498878;24623433;24733916;7607676;8125298;8522202 684 Q10589 ABBA01051198;AC010319;AI077344;AK223124;AK291099;AK303593;AMYH02035704;AY320402;BC033873;CB047887;CH471106;D28137;NM_004335 AAH33873;AAP73804;BAA05679;BAD96844;BAF83788;BAG64608;EAW84602;EAW84603;NP_004326;Q10589 Hs.118110 1685249;1698158;1852237;2131548;2163175;2168109 RH102614;RH78341;RH80754;SHGC-35522;STS-R65788;STS-T47132 BST-2;CD317;NPC-A-7 HM1.24 antigen;OTTHUMP00000231653;bone marrow stromal antigen 2;tetherin APPROVED protein-coding ENSG00000130303 HGNC:1119 02759 600534 REVIEWED 10249 BSG basigin (Ok blood group) The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 234501 246669 - 571277 583493 + 571277 583493 + 734663;734662;1580863;2289051;2289053;2289063;2289052;2289054;2289055;2289059;2296028;2296029;6480464;6484113 16004819;16029217;16627983;16633062;17021824;17342307;17671123;18223224;9154157;9245724;9559645 10706100;10880960;10921872;11688976;11943775;11992541;12117738;12173047;12174874;12477932;12526080;12553375;12558975;12692261;12754519;12792908;12898514;12902469;12925876;12939332;12975309;14671212;14702039;14707126;14729463;14749763;14985463;15057824;15161697;15181074;15201341;15340161;15489334;15632013;15671024;15711733;15770719;15823273;15831673;15833850;15890777;15901826;15904490;15917240;15946952;16080871;16189514;16196087;16207318;16310185;16339461;16344560;1634773;16396496;16425263;16443928;16461815;16507143;16712791;16721788;16771728;16778084;16824781;16911716;17050542;17081065;17081983;17088917;17127621;17145878;17209789;17255364;17267690;17353931;17441962;17444954;17460779;17540176;17579119;17589939;17593815;17633444;17706116;17725804;1783610;17962725;17965264;17996943;18035727;18048771;18160397;18160808;18256385;18273614;18430721;18431027;18434307;18456655;1846736;18508606;18554952;18567995;18608214;18664479;18665467;18688595;18689500;18689982;18695939;18751374;18762818;18774544;18778892;18781797;18816083;18847500;18852494;18997004;19015455;19019082;19019167;19048397;19093255;19176030;19176383;19214198;19223118;19298604;19337990;19350111;19372030;19427027;19438743;19473445;19500591;19541433;19548138;19580345;19582878;19597352;19615356;19615732;19639092;19734590;19751784;19758589;19768682;19775453;19779140;19863615;19885565;19913121;19921476;19946888;19950699;19956835;19995409;20021816;20021962;20021964;20047591;20060267;20082657;20082877;20083879;20147391;20199151;20213083;20236683;2032306;20345978;20360068;20369477;20381119;20384626;20406987;20451353;20451562;20454640;20455995;20473759;20483678;20509007;20514014;20514493;20525232;20558462;20563831;20628086;20629990;20631064;20646600;20658178;20810913;20824203;20969816;21039753;21083710;21119439;21145461;21146836;21165561;21211394;21228176;21245143;21320284;21328337;21343160;21355964;21441138;21464540;21470566;21532623;21536654;21554254;21563192;21613799;21620857;21641389;21655935;21660043;21665938;21687950;21693764;21694447;21724278;21726808;21745000;21787388;21789540;21809360;21870331;21890473;21906983;21918972;21924036;21937704;21942715;21956400;21963094;21967109;21987572;21994090;22053931;22080952;22129926;22130661;22192282;22198615;22200845;22200897;22215147;22268729;22280229;22298186;22304920;22320715;22366034;22374422;22389410;22417846;22427101;22460757;22490855;22505724;22555451;22575025;22592183;22595757;22626996;22640183;22659167;22670315;22729071;22800476;22844419;22870202;22883094;22906282;23005037;23012390;23054081;23097496;23135911;23178078;23221648;23249715;23258846;23263825;23292863;23383273;23389916;23393905;23413783;23463506;23474495;23516431;23536308;23554123;23566400;23577575;23598007;23602236;23622764;23623923;23665204;23669100;23686717;23687119;23716178;23817808;23828593;23861727;23879967;23888049;23925827;23936495;23948277;23948694;23950866;23966157;24013424;24013786;24014600;24019861;24064772;24073208;24090196;24131772;24132924;24250222;24264599;24297912;24309224;24337577;24374756;24379084;24654937;24661733;24816145;24906624;25015289;7273846;7812975;7821789;8404035;8752667;9130641;9360995;9767135 682 I3L192;P35613;Q54A51;R4GMX5;R4GN83 AB072923;AB085790;AB091680;ABBA01002575;AC005559;AC009005;AF042854;AF548371;AK095912;AK296858;AK297880;AK302231;AMYH02035115;AY358113;AY942196;BC009040;BG480530;BI464857;BU501595;CB153773;CH471242;D28441;D45131;DA007913;GU557064;GU557065;L10240;L20471;M87879;NG_007468;NM_001728;NM_198589;NM_198590;NM_198591;X64364;XM_005259619 AAA68936;AAA91084;AAB41120;AAC33279;AAD10704;AAH09040;AAN40694;AAQ88480;AAX20110;ADD31881;ADD31882;ADZ15997;BAA05807;BAA08109;BAB88938;BAC67168;BAC76828;BAG59422;BAG60203;BAG63585;CAA45716;EAW61180;EAW61181;EAW61182;EAW61183;EAW61184;EAW61185;EAW61186;EAW61187;NP_001719;NP_940991;NP_940992;NP_940993;P35613;XP_005259676 Hs.501293 1682025;5111635 RH79940;RH80808 5F7;CD147;M6;OK;TCSF CD147 antigen;EMMPRIN;OK blood group antigen;basigin;collagenase stimulatory factor;extracellular matrix metalloproteinase inducer;leukocyte activation antigen M6;tumor cell-derived collagenase stimulatory factor APPROVED protein-coding ENSG00000172270 HGNC:1116 00176 109480;111380 REVIEWED 1346772 BSND barttin CLCNK-type chloride channel accessory beta subunit This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008] 1 1 1 p32.1 53752220 53762073 + 55464617 55474465 + 54998944 55008792 + 1600603;1580863;6480464;7240710;8554872;8699517 11687798 11734858;12111250;12477932;12574213;12761627;15489334;15496163;16572343;16773427;16849430;17510212;17652939;17954364;18094726;18776122;18843510;19096086;19646679;19913121;20301607;20628086;21269598;21541222;21832049;23110775 7809 Q5VU50;Q8WZ55 ABBA01074702;ABBA01074703;ABBA01074704;AK129999;AL589790;AL590440;AMYH02001062;AY034632;BC069510;BC103898;BC103899;BC103900;CH471059;NG_008965;NM_057176;XM_006710883 AAI03899;AAI03900;AAI03901;AAK57750;EAX06661;NP_476517;Q8WZ55;XP_006710946 Hs.151291 1336013;1722873;1792534;2107899 BSND_8762;D1S2652;G60531;PMC153210P1 BART;DFNB73;MGC119283;MGC119284;MGC119285 Bartter syndrome, infantile, with sensorineural deafness (Barttin);OTTHUMP00000009804;barttin;deafness, autosomal recessive 73 APPROVED protein-coding HGNC:16512 05914 602522;606412 REVIEWED 1626189 BSX brain-specific homeobox ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN eating behavior (inferred); locomotory behavior (inferred); mammary gland involution (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); transcription factor complex (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); lead diacetate (ortholog) 11 11 11 q24.1 120007843 120011864 - 122848357 122852379 - 122977649 122981671 - 6480464 14678827;17353277;18029348;18855024;21102462 390259 Q3C1V8 AB231738;ABBA01031278;AMYH02025709;AP003040;NM_001098169 BAE46889;NP_001091639;Q3C1V8 Hs.449687 BSX1 OTTHUMP00000196762;brain specific homeobox;brain-specific homeobox protein homolog protein-coding ENSG00000188909 HGNC:20450 611074 VALIDATED 2301265 BTBD17 BTB (POZ) domain containing 17 INVOLVED IN negative regulation of viral genome replication (ortholog); response to virus (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); plasma membrane (ortholog); INTERACTS WITH trichostatin A; valproic acid; benzo[a]pyrene (ortholog) 17 17 17 q25.1 68945277 68950680 - 72352555 72357958 - 74356416 74361819 - 6480464;8554872 16625196 388419 A6NE02 ABBA01028841;AC103809;AMYH02033975;CH471099;NM_001080466 A6NE02;AAI68374;EAW89155;NP_001073935 Hs.211870 BTBD17A;LGALS3BPL;TANGO10A BTB/POZ and BACK domain-containing protein LOC388419;BTB/POZ domain-containing protein 17;galectin-3-binding protein-like;transport and golgi organization 10 homolog A protein-coding ENSG00000204347 HGNC:33758 PROVISIONAL 1318539 BTBD11 BTB (POZ) domain containing 11 ENCODES a protein that exhibits protein heterodimerization activity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 12 12 12 q23.3 107377745 107718969 + 107712197 108053419 + 107318420 107659642 + 6480464;8554872 12477932;14702039;19734545;19913121;20379614;20628086 121551 A6QL63;B3KVD0;B3KXB0;C9JV03;H0YHR1 ABBA01053152;ABBA01053153;ABBA01053154;ABBA01053155;ABBA01053156;ABBA01053157;ABBA01053158;ABBA01053159;ABBA01053160;AC007540;AC007649;AC009774;AI638039;AK091276;AK094304;AK122818;AK124835;AK127012;AK127295;AK128445;AMYH02027141;AMYH02027142;AMYH02027143;AMYH02027144;AMYH02027145;AY373588;BC027931;BC093627;BC093629;BC101561;BC101563;BC146824;CH471054;NM_001017523;NM_001018072;XM_005268645 A6QL63;AAH93627;AAH93629;AAI01562;AAI01564;AAI46825;AAR21078;BAC03626;BAC85963;BAG53742;BAG54422;BAG54475;BAG54675;EAW97799;EAW97800;EAW97801;NP_001017523;NP_001018082;XP_005268702 Hs.271272 1337585;1671402;1712386;1712390;1712396;1712400;1722743;1734048;1763323;1772124;2121140;2148191;2153327;5014051;5024039;5037552 D11S3993;D12S1109;D12S1110;D12S1126;D12S1865;D12S353;D16S325;D8S2278;D8S2279;G54219;G54221;G54225;G54227;G60310;SHGC-147049;STS-W15573 ABTB2B;FLJ33957;FLJ42845 ANK-repeat BTB domain containing protein;BTB/POZ domain-containing protein 11;OTTHUMP00000197304;OTTHUMP00000197305;OTTHUMP00000197306;OTTHUMP00000242590;ankyrin repeat and BTB/POZ domain-containing protein BTBD11 protein-coding ENSG00000151136 HGNC:23844 12536 VALIDATED 1352187 BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011] 10 10 10 q22-q23 87427411 87534594 + 93683526 93790755 + 91923769 92030998 + 1580863;6480464;8554872 10642510;12477932;12646231;14988402;15302935;15509807;16385451;16531235;18025106;19322201;19454010;19471022;19505873;20379614;20627952;21139048;21252943;21890473;21988832;22939629;24816145;7835343;7836461;7933101;8121496;8680883;8764009;8764062;8849451;9054383;9159119;9342322;9488487 9044 O14981;Q2M1V9;Q8N6J1 AB208843;ABBA01021919;ABBA01021920;ABBA01021921;AF038362;AF166116;AF166118;AJ001017;AK303554;AK308399;AL359198;AL365398;AMYH02023523;AMYH02023524;AMYH02023525;AMYH02023526;BC029930;BC030273;BC047009;BC112201;CH471066;CQ834836;NM_003972;XM_005270265;XM_005270266;XR_246113 AAC04573;AAF37802;AAF37803;AAH29930;AAH30273;AAH47009;AAI12202;BAD92080;BAG64578;CAA04475;CAH05633;EAW50102;EAW50103;NP_003963;O14981;XP_005270322;XP_005270323 Hs.500526 2217082 BTAF1_3495 KIAA0940;MGC138406;MOT1;TAF(II)170;TAF172;TAFII170 ATP-dependent helicase BTAF1;B-TFIID transcription factor-associated 170 kDa subunit;BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae);Mot1 homolog;OTTHUMP00000020093;TATA-binding protein-associated factor 172;TBP-associated factor 172 APPROVED protein-coding ENSG00000095564 HGNC:17307 05546 605191 VALIDATED 1322160 BTBD1 BTB (POZ) domain containing 1 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 15 15 15 q24 60850514 60901468 + 83685175 83736106 - 83016423 83067434 - 1580863;6480464 10737800;11076863;11179693;11230166;11256614;11818025;12477932;12878161;14702039;15486563;15489334;15489336;16381901;17543862;17549794;18247557;18305892;19295130;19460752;19615732;19995937;20531441;21092135;21145461;21326860;21890473;21906983;21963094;22505724;25011449;8125298 53339 H0YL89;Q9H0C5 ABBA01029433;ABBA01029434;AC022558;AC024270;AF257241;AF355402;AF529369;AK000731;AK225355;AK225362;AK294410;AK298534;AL136853;AMYH02030923;AMYH02030924;AMYH02030925;AY364253;BC017464;BC028097;BF095127;BI553790;CH471188;NM_001011885;NM_025238;XM_006720573 AAH28097;AAK17068;AAK25825;AAQ09603;AAQ76812;ABM82384;ABM85561;BAA91345;BAH11757;BAH12808;CAB66787;CAL38638;EAW62429;EAW62430;NP_001011885;NP_079514;Q9H0C5;XP_006720636 Hs.459149 1339899;1650262;1653639;1665933;1670701;1710720;1730103;1736512;1760599;2165676;2166586;2183516;7185569 D15S133E;D15S200;D15S623E;D15S719E;G09681;SHGC-144150;SHGC-63476;SHGC-63477;SHGC-83690;STS-R67078;STS-T59353;WI-13449 C15orf1;NS5ATP8 BTB domain containing 1;BTB/POZ domain-containing protein 1;HCV NS5A-transactivated protein 8;OTTHUMP00000190872;hepatitis C virus NS5A-transactivated protein 8 APPROVED protein-coding ENSG00000064726 HGNC:1120 12251 608530 REVIEWED 1322924 BTBD16 BTB (POZ) domain containing 16 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; mercaptopurine (ortholog) 10 10 10 q26.13 117763200 117830044 + 124030811 124097676 + 122271296 122338161 + 6480464;8554872 12477932;14702039;15164054;15489334;16385451;18519826;19488044;20379614;22990118;23577725 118663 Q32M84 AA926746;ABBA01062846;AK058088;AL135793;AMYH02023948;AMYH02023949;BC109261;BC109262;BX842243;CH471066;NM_144587;XM_005269494;XM_006717616 AAI09262;AAI09263;BAB71658;EAW49320;EAW49321;NP_653188;Q32M84;XP_005269551;XP_006717679 Hs.422466 C10orf87;FLJ25359;MGC129864;MGC129865 BTB/POZ domain-containing protein 16;OTTHUMP00000020649;chromosome 10 open reading frame 87 protein-coding ENSG00000138152 HGNC:26340 12594 VALIDATED 1601947 BTBD10 BTB (POZ) domain containing 10 INVOLVED IN negative regulation of neuron death (ortholog); positive regulation of phosphorylation (ortholog); type B pancreatic cell proliferation (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 11 11 11 p15.2 13535739 13611028 - 13409555 13484838 - 13388008 13463291 - 6480464 12477932;14702039;15489334;15556295;16169070;16344560;18029348;18160256;20379614;21139048;21145461;21267538;21900206;21906983;21963094;21988832;22321011;22388351;23000965;23080069;23320755 84280 B7Z503;D3DQW7;E9PKM7;E9PKU9;E9PN21;E9PPD8;Q6P5W1;Q9BSF8 ABBA01061123;ABBA01061124;ABBA01061125;AC016884;AC021269;AF329102;AI051522;AK095946;AK292392;AK294259;AK294768;AK298226;AK310935;AK316163;AL832981;AMYH02024350;AY221959;BC005071;BC017072;BC062633;CH471064;DB030132;NM_001297741;NM_001297742;NM_032320;XM_005253164;XM_005253165;XM_006718345 AAH05071;AAH17072;AAH62633;AAL69061;AAO64360;ACE86711;ACE87396;BAF85081;BAH11714;BAH11877;BAH12739;BAH14534;CAH56329;EAW68497;EAW68498;EAW68499;EAW68500;EAW68501;EAW68502;NP_001284670;NP_001284671;NP_115696;Q9BSF8;XP_005253221;XP_005253222;XP_006718408 Hs.332382 1340715;1644947;1652650;1652652;1744311;1797148;7184463 A005L39;D11S926;G20319;GDB:451631;HSC0WD062;MGC13007 GMRP-1;GMRP1;MGC13007 BTB (broad-complex tramtrack and bric-a-brac/pox virus and zinc finger) domain-containing protein 10;BTB/POZ domain-containing protein 10;K+ channel tetramerization protein;OTTHUMP00000230967;OTTHUMP00000230969;OTTHUMP00000230970 protein-coding ENSG00000148925 HGNC:21445 17045 615933 VALIDATED 2923345 BTBD18 BTB (POZ) domain containing 18 INTERACTS WITH lead(0); lead(2+) 11 11 11 q12.1 54867702 54875969 - 57510986 57519253 - 57743514 57751781 - 6480464 11181995;12477932 643376 B2RXH4;E9PRF5 ABBA01021477;AI699344;AMYH02024846;AP001931;BC157853;BC157854;CH471076;DC346943;NM_001145101;XM_006718664 AAI57854;AAI57855;B2RXH4;EAW73783;NP_001138573;XP_006718727 Hs.606355 1782232 SHGC-100291 BTB/POZ domain-containing protein 18;OTTHUMP00000235477;hCG1730474 protein-coding ENSG00000233436 HGNC:37214 VALIDATED 7204475 BTBD7P1 BTB (POZ) domain containing 7 pseudogene 1 10 10 10 p13 13125506 13126961 - 13198681 13200136 - 13156681 13158136 - 441548 ABBA01034632;AL355355;AMYH02022171;NG_022140 pseudo HGNC:44875 INFERRED 3031244 BTBD19 BTB (POZ) domain containing 19 INTERACTS WITH trimellitic anhydride (ortholog); valproic acid (ortholog) 1 1 1 p34.1 43557034 43562677 + 45273373 45279801 + 44807704 44814151 + 6480464 14702039 149478 C9JJ37 ABBA01050907;AK056150;AK304611;AL592166;AMYH02000919;NM_001136537;XM_006710385;XM_006710386;XM_006710387;XR_246238 BAG65396;C9JJ37;NP_001130009;XP_006710448;XP_006710449;XP_006710450 Hs.632400 1743409;1780204;2161173;5015619;5015861;5037552;7185938 AL009769;D10S16;D11S3114;D8S2279;GDB:316029;SHGC-154623 RP11-269F19.7 BTB/POZ domain-containing protein 19;OTTHUMP00000203846;novel BTB domain containing protein protein-coding ENSG00000222009 HGNC:27145 PROVISIONAL 1352605 BTBD6 BTB (POZ) domain containing 6 FOUND IN cytoplasm (inferred); INTERACTS WITH atrazine; cobalt dichloride; methyl methanesulfonate 14 14 14 q32 85764120 85766668 + 105714879 105717430 + 105248542 105251093 + 1580863;6480464 12107413;12477932;15489334;16751776;20080956;21573799;21988832;22990118;8889548 90135 F8VPC8;Q96KE9 ABBA01008868;ABBA01008869;AF086420;AF173358;AF353674;AL512355;AMYH02029964;BC006414;BC042525;BU730253;CH471061;DB456488;NG_029489;NM_033271;XM_005268188 AAF36536;AAH06414;AAH42525;AAK39520;EAW81913;EAW81914;NP_150374;Q96KE9;XP_005268245 Hs.7367 1712274;2173980 G54046;SGC31908 BDPL BTB domain protein BDPL;BTB/POZ domain-containing protein 6;OTTHUMP00000163908;OTTHUMP00000212815;OTTHUMP00000243800;glucocorticoid receptor AF-1 coactivator-1;lens BTB domain protein protein-coding ENSG00000184887 HGNC:19897 12540 VALIDATED 1345329 BTBD7 BTB (POZ) domain containing 7 INVOLVED IN multicellular organismal development (inferred); regulation of branching involved in salivary gland morphogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH 17beta-estradiol; 2-methylcholine; benzo[a]pyrene diol epoxide I 14 14 14 q32.12 73757920 73853399 - 93703896 93799385 - 93237550 93333092 - 6480464;8554872 10819331;11527404;12477932;14702039;15489334;21145461;21906983;23325674;24250222 55727 G3V2J4;G3V3T2;H0YJ41;H3BLV3;Q9P203 AB040958;ABBA01030432;ABBA01030433;ABBA01030434;AI452701;AK001510;AK021953;AK074354;AK091287;AK291422;AK303355;AL049394;AL122023;AL132838;AMYH02029771;AMYH02029772;BC047071;BC141850;BX248762;BX538231;CH471061;NM_001002860;NM_001289133;NM_018167;XM_006720195;XM_006725166 AAH47071;AAI41851;AAI67795;BAA91730;BAA96049;BAB13946;BAF84111;BAG64416;CAD66569;CAD98074;CAH10736;EAW81525;EAW81526;EAW81527;EAW81528;EAW81529;NP_001002860;NP_001276062;NP_060637;Q9P203;XP_006720258;XP_006725229 Hs.525549 1338362;1660252;1667847;1754733;1851482;1855420;2128070;2147949;2156192;2170633;2172077;2191239;5015404;5016478;5021396;7187892 D14S574;D14S81;G35930;GDB:313783;GDB:434012;L17705;MARC_16723-16724:1018027059:1;RH11308;RH44522;RH44561;RH48317;RH69546;SHGC-133097;SHGC-36758;WI-20863 DKFZp686N0544;FUP1;MGC48310 BTB/POZ domain-containing protein 7;OTTHUMP00000245685;OTTHUMP00000245686;OTTHUMP00000245687;OTTHUMP00000245688 protein-coding ENSG00000011114 HGNC:18269 12541 610386 VALIDATED 7204476 BTBD7P2 BTB (POZ) domain containing 7 pseudogene 2 10 10 10 q25 106814909 106815533 + 113082536 113083160 + 111322778 111323402 + 100420392 ABBA01063014;ABBA01063015;AC021035;AMYH02023804;NG_025540 pseudo HGNC:44876 INFERRED 1323177 BTBD3 BTB (POZ) domain containing 3 INVOLVED IN cerebral cortex development (ortholog); dendrite morphogenesis (ortholog); FOUND IN cytosol (ortholog); nucleus (ortholog); INTERACTS WITH 17beta-estradiol; arsane; arsenic atom 20 20 20 p12.2 11941645 11977412 + 11871377 11907243 + 11890723 11926595 + 1580863;6480464 10231032;11780052;12421765;12477932;14702039;19322201;20463552;21348951;21720722;21890473;21963094;21987572;23000965;23251661;24250222;8889549 22903 B0QYQ9;B0QYR0;B0QYR1;B4DK27;B4DRI6;F8WAQ4;Q9Y2F9 AA127941;AB023169;ABBA01053947;AK024349;AK296364;AK299281;AK300371;AK307472;AK316256;AK316519;AL035448;AL137756;AMYH02036707;AMYH02036708;BC093677;BC101527;BC109315;BC109316;CB961606;CH471133;DC314595;DC418438;DR759697;KF456826;NM_001282550;NM_001282551;NM_001282552;NM_001282554;NM_014962;NM_181443;XM_006723550;XM_006723551 AAH93677;AAI01528;AAI09316;AAI09317;BAA76796;BAG59039;BAG61298;BAG62107;BAH14627;BAH14890;CAB70908;EAX10327;EAX10328;NP_001269479;NP_001269480;NP_001269481;NP_001269483;NP_055777;NP_852108;Q9Y2F9;XP_006723613;XP_006723614 Hs.709366 1849983;2109095;2122459;2147151;2161831;2168743 A002V06;BTBD3__4280;D20S597E;RH46091;SGC38379;SHGC-31930 KIAA0952;MGC130038;MGC130039;dJ742J24.1 BTB/POZ domain-containing protein 3;OTTHUMP00000030288;OTTHUMP00000030289;OTTHUMP00000197601;OTTHUMP00000197603;OTTHUMP00000197605;OTTHUMP00000197606 protein-coding ENSG00000132640 HGNC:15854 12538 615566 VALIDATED 1347221 BTBD8 BTB (POZ) domain containing 8 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p22.1 90792299 90859815 + 92545862 92613397 + 92080305 92147840 + 6480464;8554872 12477932;14654994;15489334;18029348;20562859;21145461;23251661 284697 B4DKD6;Q5XKL5 ABBA01045552;ABBA01045553;ABBA01045554;AC104836;AK296516;AMYH02001477;AMYH02001478;AY346333;BC013922;CH471097;NM_183242 AAH13922;AAQ24383;BAG59148;EAW73102;EAW73103;EAW73104;NP_899065;Q5XKL5 Hs.676102 1692784;1773267;1848017 AL033751;G15734;SHGC-75148 BTB/POZ domain-containing protein 8;OTTHUMP00000011944;OTTHUMP00000011945;double BTB/POZ domain containing protein protein-coding ENSG00000189195 HGNC:21019 12542 VALIDATED 1344972 BTBD2 BTB (POZ) domain containing 2 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1919445 1949684 - 1985437 2015702 - 1985438 2015703 - 1580863;6480464;8554872 11179693;11818025;12477932;12782588;12878161;14702039;15057824;15231748;15489334;15761153;16169070;17543862;18305892;18775313;19295130;19615732;19995937;20368557;20610542;21092135;21139048;21145461;21890473;21900206;21906983;21988832;8125298;8619474;9110174 55643 K7EMW9;K7ENV9;Q9BX70 ABBA01002699;ABBA01002700;AC004678;AC005306;AF355797;AK000393;AK027481;AK056818;AK225831;AL360275;AMYH02035179;AMYH02035180;AMYH02035181;AMYH02035182;AMYH02035183;AY007116;BC000564;BC008035;BC053986;BC069199;BC094820;BU849231;CH471139;CR457230;NM_017797;XM_005259593 AAC16070;AAC26984;AAG45443;AAH00564;AAH08035;AAH53986;AAH69199;AAH94820;AAI52719;AAI56975;AAK25826;BAA91136;BAB55143;CAB96527;CAG33511;EAW69424;EAW69425;NP_060267;Q9BX70;XP_005259650 Hs.465543 1686094;1686592 RH93415;RH93682 BTB/POZ domain-containing protein 2 APPROVED protein-coding ENSG00000133243 HGNC:15504 12252 608531 REVIEWED 5135100 BTBD9-AS1 BTBD9 antisense RNA 1 6 38449372 38450303 + 100505567 XR_108642;XR_133425 APPROVED ncrna HGNC:40959 1315893 BTBD9 BTB (POZ) domain containing 9 This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011] 6 6 6 p21 39689759 40161407 - 38136227 38608202 - 38168451 38640426 - 1580863;6480464;8554872 11572484;12477932;14702039;16344560;17634447;17637780;18363860;19223043;19279021;19615732;19822783;20379614;21139048;21145461;21572129;21779176;21906983;21925394;22486183;22505724;22914617;23361623 114781 C9J8E4;C9JVC1;H7C5Z6;Q96Q07 AB067467;ABBA01038295;ABBA01038296;ABBA01038297;ABBA01038298;ABBA01038299;ABBA01038300;ABBA01038301;ABBA01038302;ABBA01038303;AK057507;AK090930;AK126242;AL031905;AL033518;AL079341;AL157476;AL355345;AL451162;AMYH02013580;AMYH02013581;AMYH02013582;AMYH02013583;AMYH02013584;BC035667;BC101354;BC101355;BC101356;BC101357;BX537534;CH471081;DA391209;DB095510;NG_016545;NM_001099272;NM_001172418;NM_052893;NM_152733;XM_005248841 AAI01355;AAI01356;AAI01358;BAB67773;BAB71514;BAC03550;EAX03959;EAX03960;EAX03961;NP_001092742;NP_001165889;NP_443125;NP_689946;Q96Q07;XP_005248898 Hs.603858 1340444;1649023;1649025;1655548;1661626;1661908;1693338;1694204;1701438;1704000;1705032;1732539;1751695;1752469;1775102;1777266;1855733;1856599;2126797;2131858;2161356;2165647;5020631 A005M39;AL034434;AL035196;D6Rat38;D6S1912;D6S2430;D6S389;D6S943;FB21E3;G20340;RH104351;RH16174;RH45619;RH46658;SHGC-105745;SHGC-106396;SHGC-77787;SHGC-78033;STS-AA019721;STS-R05478;STS-Z39767;WI-16237;WI-20491 FLJ32945;KIAA1880;MGC120517;MGC120519;MGC120520;dJ322I12.1 BTB/POZ domain-containing protein 9;OTTHUMP00000016336;OTTHUMP00000016338;OTTHUMP00000216692 APPROVED protein-coding ENSG00000183826 HGNC:21228 12543 611237 REVIEWED 5128907 BTF3L4P1 basic transcription factor 3-like 4 pseudogene 1 21 21 21 4065581 4066084 - 18889252 18891379 - 17516934 17519061 - 100505945 ABBA01057120;AMYH02037559;AP000963;NG_028972;NG_029458 transcription factor BTF3 homolog 4-like pseudo HGNC:39645 INFERRED 1313273 BTD biotinidase The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] 3 3 3 p25 15581404 15625466 + 15642864 15689147 + 15601352 15647640 + 1580863;6480464;6907045;7240710;8554872;8699517 10206677;10655158;10737800;11668630;12359137;12477932;12618081;15489334;15776412;16335952;16341674;16502470;1679665;17185019;18479898;18645204;19728141;19757147;19806568;20224900;20301334;20301497;20532819;20539236;20549359;20556795;21378990;22911723;23314748;23481307;3930841;7509806;7550325;8001986;9099842;9396567;9530634;9654207 686 C9J387;C9JSN9;F8WCU5;P43251 ABBA01025137;ABBA01025138;AC027129;AC090950;AF018631;AI391654;AK294301;AK297033;AK301838;AK313252;AL573841;AMYH02006333;BC012099;BE814688;BE814713;BM565546;BM839350;BM919775;BP326502;CH471055;NG_008019;NM_000060;NM_001281723;NM_001281724;NM_001281725;NM_001281726;U03274;XM_005265417;XM_006713314;XM_006713315 AAC04318;AAC21679;AAH12099;BAG36062;BAG57582;BAG59561;BAH13565;EAW64254;EAW64255;EAW64256;NP_000051;NP_001268652;NP_001268653;NP_001268654;NP_001268655;P43251;XP_005265474;XP_006713377;XP_006713378 Hs.517830 1664988;1689849;1730387;1735254;1740031;1774635;2110285;2111384;2133217;2141658 BTD_8233;D17S1646E;D3S2760E;D3S2915E;D3S3311;D3S3496;D3S4178;RH91153;STS-U03274;WI-7349 OTTHUMP00000160300;OTTHUMP00000209134;OTTHUMP00000209135;OTTHUMP00000209138;biotinase APPROVED protein-coding ENSG00000169814 HGNC:1122 08359 253260;609019 REVIEWED 1317667 BTF3 basic transcription factor 3 This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] 5 5 5 q13.2 68689543 68696740 + 72794250 72801448 + 73498425 73505623 + 1580863;6480464 10094400;10982809;11329013;12477932;1386332;15489334;15492215;15716105;17312387;18025262;19460752;19615732;20000738;20016921;20972266;21139048;21832049;21890473;21906983;21963094;22053931;22505724;22863883;22939629;23000965;2320128;23363935;23532689;23901224;24250222;24386364;24816145;8047162;8125298 689 D6RDG3;H0Y9Y1;P20290 AB062126;ABBA01061918;AC099522;AK225964;AK291125;AK310919;AMYH02011562;BC008062;BC061913;BG182166;BT007120;BU661989;BX359147;BX537826;CH471084;M90352;M90357;NM_001037637;NM_001207;X53280;X74070 AAA58398;AAH08062;AAP35784;ABM83902;ABM87223;BAB93458;BAF83814;CAA37375;CAA52200;EAW95723;EAW95724;EAW95725;EAW95726;EAW95727;EAW95728;NP_001032726;NP_001198;P20290 Hs.591768 1848504;2115319;2179206;5019026 G42974;RH70088;STS-N23069;STS-N27423 BETA-NAC;BTF3a;BTF3b;NACB NAC-beta;OTTHUMP00000128196;OTTHUMP00000128197;OTTHUMP00000222431;RNA polymerase B transcription factor 3;nascent polypeptide-associated complex subunit beta;nascent-polypeptide-associated complex beta polypeptide;transcription factor BTF3 APPROVED protein-coding ENSG00000145741 HGNC:1125 03966 602542 REVIEWED 5128953 BTF3L4P4 basic transcription factor 3-like 4 pseudogene 4 4 4 4 q32.3 166849143 166849654 - 169519266 169519977 - 168598115 168598826 - 9847074 100506061 ABBA01070331;AC079926;AMYH02010473;NG_028949 pseudo HGNC:39648 INFERRED 1605903 BTF3L4 basic transcription factor 3-like 4 INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; cyclosporin A 1 1 1 p32.3 50809334 50841560 + 52521857 52556388 + 52056185 52090716 + 6480464 11181995;12477932;14702039;15489334;16344560;16710414;19322201;21139048;21890473;22053931;22505724;22863883;22939629;23000965;24816145 91408 E9PL10;E9PPC3;Q96K17 ABBA01074781;AK027582;AK027750;AL139156;AL445685;AL606761;AMYH02001008;AMYH02001009;AX882440;BC021004;BC022371;BC070378;BU567198;BU785869;CH471059;DA369498;NM_001136497;NM_001243767;NM_152265 AAH21004;AAH22371;AAH70378;ABZ92137;BAB55342;BAG51353;CAE91581;EAX06795;EAX06796;EAX06797;EAX06798;EAX06799;NP_001129969;NP_001230696;NP_689478;Q96K17 Hs.429839 1690362;1717905;1739957;2122958;2129428;5037552 D1S2194;D1S2523;D8S2279;RH122826;RH18833;RH93314 MGC23908;MGC88389;RP4-800M22.5 OTTHUMP00000010514;OTTHUMP00000231781;OTTHUMP00000231782;OTTHUMP00000231783;transcription factor BTF3 homolog 4;transcription factor BTF3-like protein-coding ENSG00000134717 HGNC:30547 17521 VALIDATED 1354341 BTF3P1 basic transcription factor 3, pseudogene 1 8 8 8 q11.23 48622062 48623852 - 52633816 52635606 - 51721256 51723046 - 1386332 693 ABBA01041691;AC090186;AMYH02017968;M90353;NG_001086 HUMBTFA pseudo HGNC:1129 INFERRED 736353 BTC betacellulin The protein encoded by this gene is a member of the EGF family of growth factors. It is synthesized primarily as a transmembrane precursor, which is then processed to mature molecule by proteolytic events. This protein is a ligand for the EGF receptor. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 72966514 73015096 - 75671448 75719882 - 74746238 74794672 - 1580863;1357906;2306978;2306966;2306973;2306965;2313774;2306967;2324625;2326087;2317963;6480464;6484113;6907045;8554872 10724350;11564606;12148846;14988244;15793259;15982853;16306376;16683131;18388935;19819964 10706134;10940639;11076863;11254912;11522793;12074582;12111392;12477932;12768307;15192046;15248827;15274392;15489334;15489336;15507448;15936459;16381901;16869959;17479438;17525275;17895248;17962208;18508082;19740107;20165885;20530572;22183345;24092824;24629040;7590736;8144591;8439318;8919026;9528863;9662041 685 H0Y8Q5;P35070 AB109441;AB109443;ABBA01063340;AC098825;AC116645;AC123887;AMYH02009486;BC011618;CH471057;NM_001729;S55606;XM_005263190 AAB25452;AAH11618;BAC76609;BAC76611;CAL37603;CAL37873;CAL38181;CAL38427;EAX05712;NP_001720;P35070;XP_005263247 Hs.710156 1731861;2134874;2154385 D4S1633E;SHGC-35798;SHGC-59577 OTTHUMP00000160600;OTTHUMP00000219057;probetacellulin APPROVED protein-coding HGNC:1121 02643 600345 REVIEWED 5552923 BTF3L4P3 basic transcription factor 3-like 4 pseudogene 3 6 6 6 q23.3 138605176 138688212 - 137864639 137865580 - 137543502 137544443 - 20190752 391040 ABBA01025818;AL023580;AMYH02014569;NG_030609 1715753;1721225;5094216 G54617;G59456;RH119323 pseudo HGNC:39647 INFERRED 5128906 BTF3L4P2 basic transcription factor 3-like 4 pseudogene 2 2 2 2 q24.2 153476913 153477981 + 159860162 159861230 + 159003650 159004718 + 11181995 653189 ABBA01004858;AC010093;AMYH02005065;NG_006120 BTF3L4P pseudo HGNC:39646 INFERRED 3340241 BTF3P14 basic transcription factor 3 pseudogene 14 17 17 17 p13.2 6246271 6247084 - 6225735 6226548 - 6322415 6323228 - 100132641 ABBA01054827;AC005668;AMYH02032870;NG_022441 2180232 D17S2125 pseudo HGNC:38571 INFERRED 4144714 BTF3P16 basic transcription factor 3 pseudogene 16 3 3 3 q12.3 99568118 99568979 - 101175829 101176690 - 101456985 101457846 - 643412 ABBA01061776;AC110994;AMYH02007315;NG_005360 pseudo HGNC:38568 INFERRED 1346870 BTF3P10 basic transcription factor 3 pseudogene 10 6 6 6 q25.1 151033587 151034418 + 150298962 150299825 + 149977826 149978689 + 11827464 345829 ABBA01025669;AL355497;AMYH02014699;NG_005361 RAET1J APPROVED pseudo HGNC:38570 INFERRED 1345867 BTF3P13 basic transcription factor 3 pseudogene 13 This locus defines a putative member of the BTF3 family of transcription factors and is thought to represent a pseudogene. [provided by RefSeq, Jul 2008] 4 4 4 q23 96956905 96957776 + 99661776 99662647 + 98740625 98741496 + 1580863 1386332 132556 ABBA01063660;AC114811;AMYH02009792;M90356;NG_006070 AAA58401 BTF3L3;HUMBTFD APPROVED pseudo HGNC:1128 603739 INFERRED 1344506 BTF3P11 basic transcription factor 3 pseudogene 11 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; disodium selenite 13 13 13 q22 58400594 58401233 + 77502585 77503224 + 76928451 76929090 + 1580863;6480464 12477932;1386332;18445777;9325059 690 ABBA01021659;AC000403;AMYH02028310;BC106717;BC106718;BC115358;CH471093;M90354;NR_026983 AAA58400;EAW80559 Hs.567241 1677742;5492555 RH76254;UniSTS:481612 BTF3L1;HUMBTFB;OCIF;OPG;TNFRSF11B APPROVED pseudo HGNC:1126 602543 PROVISIONAL 1344981 BTF3P2 basic transcription factor 3, pseudogene 2 14 14 14 q12 9007695 9008544 - 29142188 29143047 - 28672982 28673841 - 283631 ABBA01061375;AL121766;AMYH02028916;NG_002470 pseudo HGNC:19924 INFERRED 1347464 BTF3P12 basic transcription factor 3 pseudogene 12 This locus represents a putative member of the BTF3 family of transcription factors. With no transcription yet documented, it is thought that this locus represents a pseudogene. [provided by RefSeq] 8 8 8 q13.3 67183184 67184089 + 71185498 71186403 + 70273263 70274168 + 1580863;6480464 1386332 652963 ABBA01041939;AC021558;AMYH02018168;M90355;NG_005366 AAB04035 BTF3L2;HUMBTFC APPROVED pseudo HGNC:1127 603738 INFERRED 3028811 BTF3P15 basic transcription factor 3 pseudogene 15 10 10 10 q25.1 105032230 105032710 + 111294413 111294887 + 109534655 109535129 + 100130409 ABBA01063040;AL589948;AMYH02023787;NG_028759 pseudo HGNC:38567 INFERRED 5553009 BTF3P3 basic transcription factor 3, pseudogene 3 8 8 8 p21.3 21311643 21312512 + 22350013 22350888 + 22492500 22493375 + 652964 ABBA01005519;AC037459;AC087854;AMYH02017593;NG_005367 pseudo HGNC:31100 INFERRED 3498029 BTF3P4 basic transcription factor 3 pseudogene 4 9 9 9 q21.13 45295192 45296051 - 74722479 74723338 - 72107563 72108422 - 392350 ABBA01033851;AL583829;AMYH02020974;NG_005362 pseudo HGNC:38566 INFERRED 4109587 BTF3P6 basic transcription factor 3 pseudogene 6 21 21 21 q22.11 20090551 20091049 - 34890917 34891415 - 33518610 33519108 - 100499261 ABBA01057350;AMYH02037740;AP000303;NG_023442;NG_029160 1811444;1811930;2029126;2029128;2029130;2029132;2029134;2029136;2029138;2029140;2029142;2029144 ECD06721;ECD06969;REN85567;REN85568;REN85569;REN85570;REN85571;REN85572;REN85573;REN85574;REN85575;REN85576 pseudo HGNC:23765 INFERRED 3160708 BTF3P5 basic transcription factor 3 pseudogene 5 2 2 2 p16.1 55502437 55503260 - 55662032 55662855 - 55434896 55435719 - 652959 ABBA01075267;AC019198;AMYH02003852;NG_005363 pseudo HGNC:38565 INFERRED 3160707 BTF3P7 basic transcription factor 3 pseudogene 7 6 6 6 p25.1 8024624 8025469 - 6794889 6795734 - 6794656 6795501 - 652960 ABBA01022023;AL391535;AMYH02013051;NG_005364 pseudo HGNC:38569 INFERRED 3160706 BTF3P8 basic transcription factor 3 pseudogene 8 X X X q11.1 63333492 63334321 + 62986639 62987468 + 63766759 63767588 + 652961 ABBA01066821;AL451106;AMYH02039596;NG_005365;NG_016975 pseudo HGNC:38572 INFERRED 736072 BTG1 B-cell translocation gene 1, anti-proliferative This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008] 12 12 12 q22 92205336 92210955 - 92534054 92539673 - 92140278 92145897 - 2298943;6480464 16245302 10617598;11136725;11420681;11429045;11856371;12135500;12477932;1373383;14734530;15033446;15489334;15674337;16344560;18029348;18814951;19515430;20354172;20445134;2069907;21900206;21988832;22072402;22868968;22975506;22990118;23982470;24084718;24264312;24272202;24998463;8663146;9690562;9712883;9820826 694 F8W0U7;P62324;Q6IBC8 ABBA01053398;AC025164;AK307057;AK313309;AMYH02026923;AY850133;BC009050;BC016759;BC064953;BT019839;BT019840;BT019841;CH471054;CR456876;CR541782;DB042281;NM_001731;S38424;S38425;X61123 AAA08538;AAH16759;AAH64953;AAV38642;AAV38643;AAV38644;AAV97814;ABW03541;ABW03845;BAG36114;CAA43435;CAG33157;CAG46581;EAW97466;EAW97467;NP_001722;P62324 Hs.255935 1649373;1744005;1795224 BTG1_60;GDB:384770;RH45870 B-cell translocation gene 1 protein;OTTHUMP00000242800 APPROVED protein-coding ENSG00000133639 HGNC:1130 15912 109580 REVIEWED 2881281 BTF3P9 basic transcription factor 3 pseudogene 9 INTERACTS WITH cadmium atom 1 1 1 q42 200813009 200813549 + 227621767 227622307 + 227434066 227434606 + 6480464 12477932;21906983 503543 ABBA01009613;AL606462;AMYH02002828;BC062736;NG_004831 Hs.586511 5019026 G42974 pseudo HGNC:38573 INFERRED 733952 BTG3 BTG family, member 3 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 21 21 21 q21.1 4140718 4160017 - 18965968 18985268 - 17593650 17612950 - 1580863;6480464 10830953;10940556;11377414;11429045;12477932;15489334;16344560;16713569;17690688;18590053;19221000;20360068;21078624;21145461;21906983;21963094;22020331;23533280;23657964;23810394;9067576;9632145 10950 C9JLA2;Q14201;Q6IAU3 ABBA01057122;AF200465;AK289408;AL049332;AMYH02037562;AP000432;AP000967;BC011957;BC028229;BF110486;BT007276;CH471079;CR457061;D64110;DA381239;DR155504;NM_001130914;NM_006806;XM_006723963 AAF24345;AAH11957;AAP35940;ABM82261;ABW03379;BAA33788;BAF82097;CAG33342;EAX10026;EAX10027;EAX10028;EAX10029;NP_001124386;NP_006797;Q14201;XP_006724026 Hs.473420 1686664;1688654;1784486;1795450 BTG3_1548;RH45478;RH79886;SHGC-172493 ANA;MGC8928;TOB5;TOB55;TOFA B-cell translocation gene 3;OTTHUMP00000083229;OTTHUMP00000083230;abundant in neuroepithelium area protein APPROVED protein-coding ENSG00000154640 HGNC:1132 10415 605674 REVIEWED 1318793 BTG4 B-cell translocation gene 4 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008] 11 11 11 q23 108491434 108536253 - 111338255 111383105 - 111467530 111512380 - 1580863;6480464 10995567;11267995;11429045;12477932;15672409;16709802;18519671;19576178;20309940 54766 E9PRM5;Q9NY30 ABBA01039819;ABBA01039820;AJ271351;AMYH02025573;AP002008;BC031045;BX099301;CH471065;HC006790;HC044731;NM_017589;XM_005271601;XM_005271602;XM_006718862;XM_006718863;XM_006718864 AAH31045;ABM81904;ABM84644;CAB69821;CBH19201;CBH30695;EAW67140;NP_060059;Q9NY30;XP_005271658;XP_005271659;XP_006718925;XP_006718926;XP_006718927 Hs.128180;Hs.734027 1646835 D11S1137 MGC33003;PC3B BTG family member 4;OTTHUMP00000234045 APPROVED protein-coding ENSG00000137707 HGNC:13862 16138 605673 REVIEWED 69157 BTG2 BTG family, member 2 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. [provided by RefSeq, Jul 2008] 1 1 1 q32 176403938 176408003 + 203274664 203278730 + 203305536 203309602 + 1580863;2289074;2289078;2289068;2289069;2289070;2289075;2289081;6480464 11470758;12909328;14697320;14996721;16849553;7684483;9712737 10200315;10341341;10617598;10669755;11136725;11237868;11267995;11377414;11429045;11814693;11856371;11930152;11989967;12135500;12360398;12477932;12771185;15056715;15378000;15489334;15542835;15741235;15788397;16418486;16710414;16782888;16997058;1713584;17353931;17371797;18029348;18196550;18288394;18337750;18393292;18773938;18840609;18854154;18974182;19056867;19117054;19203451;19468252;19546886;19615363;19728149;20020054;20398657;20553615;20569234;21120602;21172304;21173166;22266859;22392501;22493435;22562501;22614007;22975506;23089312;23299537;23857284;23907596;24047462;24308156;24440351;24698107;24821435;8663146;8891336;8944033;9712883;9828097 7832 P78543 ABBA01027483;AF361937;AL513326;AMYH02002513;BC105948;BC105949;CH471067;NM_006763;U72649;Y09943 AAB37580;AAI05949;AAI05950;AAL05626;ABZ92453;CAA71074;EAW91475;EAW91476;NP_006754;P78543 Hs.519162 1795448;2179801 BTG2_75;SHGC-4213 MGC126063;MGC126064;PC3;TIS21 B-cell translocation gene 2;NGF-inducible anti-proliferative protein PC3;OTTHUMP00000033982;b-cell translocation gene 2, anti-proliferative;nerve growth factor-inducible anti-proliferative;pheochromacytoma cell-3;protein BTG2 APPROVED protein-coding ENSG00000159388 HGNC:1131 03357 601597 REVIEWED 1350737 BTLA B and T lymphocyte associated This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011] 3 3 3 q13.2 110591487 110627086 - 112182813 112218438 - 112463966 112499590 - 1580863;6480464 10737800;12477932;12796776;14652006;14702039;15489334;15568026;15647361;16131544;16169851;16643847;16932752;17024343;17257317;19155498;19207938;19585237;19762537;19915044;20066438;20331378;20693422;21403914;21592997;21920726;21959263;21982860;22179929;22205715;22459947;22634623;22691359;22903545;23375291;23692853;24909289 151888 Q400G7;Q7Z6A9 AA828425;ABBA01061663;ABBA01061664;AC092894;AI792952;AJ717664;AK131204;AK292692;AMYH02007442;AW294080;AY293286;AY599411;AY606805;BC107091;BC107092;BE832323;CD702861;DQ198368;NM_001085357;NM_181780;XM_005247136 AAI07092;AAI07093;AAP44003;AAT44901;AAV41229;ABA54407;BAD18396;BAF85381;CAG30680;NP_001078826;NP_861445;Q7Z6A9;XP_005247193 Hs.445162 2164471 AFMC026XC9 BTLA1;CD272;FLJ16065;MGC129743 B and T lymphocyte attenuator;B- and T-lymphocyte attenuator;B- and T-lymphocyte-associated protein;OTTHUMP00000214514;OTTHUMP00000214515 APPROVED protein-coding ENSG00000186265 HGNC:21087 06392 607925 VALIDATED 1315909 BTN1A1 butyrophilin, subfamily 1, member A1 Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27730812 27739977 + 26500577 26510653 + 26500349 26510425 + 1580863;6480464;8554872 10376248;10429365;11170752;12456835;12477932;14574404;15489334;16498413;16502470;19084217;19531472;19596235;21915327;23722424;24999993;6830779;7775382;8114113;8132890;8611614;9382921 696 Q13410;Q4VAN1;Q4VAN2 AA768577;ABBA01066556;AL121936;AMYH02013351;AW977526;BC096312;BC096313;BC096314;BC096315;CH471087;NM_001732;U39576;XM_005249340;XM_005249341 AAC50489;AAH96312;AAH96313;AAH96314;AAH96315;EAW55585;NP_001723;Q13410;XP_005249397;XP_005249398 Hs.153058 1681933;1683497;2106453;2173140 BTN1A1_4475;D6S2360;RH80832;RH91955 BT;BTN;BTN1 OTTHUMP00000017981;bK14H9.2 (butyrophilin, subfamily 1, member A1);butyrophilin subfamily 1 member A1 APPROVED protein-coding ENSG00000124557 HGNC:1135 03365 601610 VALIDATED 3231910 BTG1P1 B-cell translocation gene 1 pseudogene 1 12 12 12 p13.31 10824633 10825308 + 9287518 9288193 + 9134922 9135597 + 100129641 ABBA01012257;AC007436;AMYH02025998;NG_016577 pseudo HGNC:37692 INFERRED 1353022 BTN2A1 butyrophilin, subfamily 2, member A1 This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 6 6 6 p22.1 27687469 27699163 + 26458132 26476849 + 26457904 26476621 + 6480464;8554872 11170752;12477932;14574404;14702039;16344560;17207965;17785817;21139048;21211798;21347509;21468600;21525964;21557786;21672009;21784758;21890473;22576629;24452779;24816145;9149941;9382921 11120 C9JNC3;H7BYC3;H7C542;Q7KYR7 AB209777;ABBA01066556;AK093886;AK297098;AL050330;AL121936;AMYH02013351;AW007668;BC016661;BX452202;BX538050;CH471087;DB265775;DC341201;DC348937;DC414685;HY157783;NM_001197233;NM_001197234;NM_007049;NM_078476;U90142;U90543;U97495;U97496;U97497 AAB53421;AAC02650;AAC02653;AAC02654;AAH16661;ADQ31707;BAD93014;BAG59611;CAD97989;EAW55577;EAW55578;EAW55579;EAW55580;EAW55581;EAW55582;NP_001184162;NP_001184163;NP_008980;NP_510961;Q7KYR7 Hs.159028 1665142;1687029;1846668;5015861;5037552;7185938 D10S16;D6S1239E;D8S2279;RH26411;RH46612 BK14H9.1;BT2.1;BTF1;BTN2.1;DJ3E1.1;FLJ36567 OTTHUMP00000016170;OTTHUMP00000214571;OTTHUMP00000214572;butyrophilin BTF1;butyrophilin subfamily 2 member A1 APPROVED protein-coding ENSG00000112763 HGNC:1136 12544 613590 REVIEWED 1343392 BTNL1 butyrophilin-like 1 10803852;8114113 697 HGNC:1141 1315891 BTN2A2 butyrophilin, subfamily 2, member A2 Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 6 6 6 p22.1 27612635 27624383 + 26383111 26395102 + 26382870 26394874 + 6480464;8554872 10354554;11170752;12124930;12477932;14574404;14702039;15342556;15489334;19571809;21906983;9149941 10385 C9IY66;C9IZY2;C9J8J5;C9J8R3;C9JAJ6;C9JWH2;F8WC65;H7C4E8;Q8WVV5 ABBA01066555;AK123902;AK289883;AK293526;AK298570;AK304744;AL021917;AL832800;AMYH02013351;BC013258;BC014021;BC017497;BI754184;BP234194;CH471087;DC373063;DC388932;NM_001197237;NM_001197238;NM_001197239;NM_001197240;NM_006995;NM_181531;U90550;XM_005248797;XM_005248798;XM_006714953;XM_006714954;XM_006714955;XM_006714956 AAB53428;AAH14021;AAH17497;BAF82572;BAG57008;BAG60763;BAG65503;EAW55561;EAW55562;EAW55563;EAW55564;EAW55565;NP_001184166;NP_001184167;NP_001184168;NP_001184169;NP_008926;NP_853509;Q8WVV5;XP_005248854;XP_005248855;XP_006715016;XP_006715017;XP_006715018;XP_006715019 Hs.373938 1855129;2126479;2142639 NIB885;RH15843;RH18496 BT2.2;BTF2;BTN2.2;FLJ41908 OTTHUMP00000016167;OTTHUMP00000214441;OTTHUMP00000214442;OTTHUMP00000214443;OTTHUMP00000214444;OTTHUMP00000214445;OTTHUMP00000214447;butyrophilin 2;butyrophilin subfamily 2 member A2 APPROVED protein-coding ENSG00000124508 HGNC:1137 12545 613591 REVIEWED 1346267 BTN3A2 butyrophilin, subfamily 3, member A2 This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 6 6 6 p22.1 27594686 27607836 + 26365387 26378548 + 26365159 26378320 + 1580863;6480464 11170752;12124930;12477932;14574404;14702039;15489334;19204726;19295542;19571809;19946888;21113407;21906983;21918970;21963094;22505724;22685580;22767497;22846996;22966150;9149941;9382921 11118 A8K4B5;E9PIU5;E9PJE9;E9PRR1;E9PRX1;P78410;S4R3N0 ABBA01066555;AF257505;AK097330;AK290880;AK299417;AK303600;AK312847;AL021917;AMYH02013351;BC002832;BC020214;BC067086;CD686792;CD705662;CH471087;NM_001197246;NM_001197247;NM_001197248;NM_001197249;NM_007047;U90143;U90144;U90546;U97499;U97502;XM_005248827;XM_005248831;XM_005248832;XM_006714979;XM_006714980;XM_006714981;XM_006714982 AAB53424;AAC02651;AAC02652;AAC02655;AAC02656;AAF76140;AAH02832;AAH20214;BAF83569;BAG35700;BAG61399;BAG64615;EAW55557;EAW55558;EAW55559;EAW55560;NP_001184175;NP_001184176;NP_001184177;NP_001184178;NP_008978;P78410;XP_005248884;XP_005248888;XP_005248889;XP_006715042;XP_006715043;XP_006715044;XP_006715045 Hs.376046 1721677;1771764;1771790;1775008;2109099;2140608;2140641;5022200;5022651;5037552;5106902 BTN3A2_9221;D11S2921;D6S2361;D6S2366;D8S2279;G59850;L18426;RH15842;WI-14381;WI-18313;WIAF-1460 BT3.2;BT3.3;BTF4;BTN3.2;CD277;FLJ40011 OTTHUMP00000016164;OTTHUMP00000016165;OTTHUMP00000195579;OTTHUMP00000232115;butyrophilin protein;butyrophilin subfamily 3 member A2 APPROVED protein-coding ENSG00000186470 HGNC:1139 12547 613594 REVIEWED 1349753 BTN3A3 butyrophilin, subfamily 3, member A3 The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p21.3 27669980 27682923 + 26440700 26453643 + 26440472 26453415 + 1580863;6480464;8554872 10354554;11170752;12477932;14574404;15340161;15489334;16344560;19946888;20208008;21906983;21963094;21988832;22505724;8125298;9149941 10384 C9J3Q8;C9J877;C9JNZ3;C9JQT8;C9JUV8;C9JVU4;C9JZT5;O00478 AB209581;ABBA01066556;AK223279;AK223301;AK291722;AK301553;AL021917;AMYH02013351;BC015815;BT007251;BX341863;CH471087;DA445999;DC410234;KM244652;NM_001242803;NM_006994;NM_197974;U90548 AAB53426;AAH15815;AAP35915;ABM83522;ABW03508;AIP98384;BAD92818;BAD96999;BAD97021;BAF84411;BAG63049;EAW55572;EAW55573;EAW55574;EAW55575;EAW55576;NP_001229732;NP_008925;NP_932078;O00478 Hs.167741 1789605;2108711;2109099;2140641;2189675;5106902 BTN3A2_9221;BTN3A3_9097;D6S2231;D6S2361;JA05;WI-14381 BTF3;BTN3.3 OTTHUMP00000016166;OTTHUMP00000214539;OTTHUMP00000214557;butyrophilin 3;butyrophilin subfamily 3 member A3;butyrophilin subfamily 3 member A3 secreted isoform APPROVED protein-coding ENSG00000111801 HGNC:1140 12548 613595 VALIDATED 1345080 BTNL5 butyrophilin-like 5 444890 HGNC:17414 6480792 BTNL10 butyrophilin-like 10 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); cyclosporin A (ortholog); hydrazine (ortholog) 1 1 1 q42.13 201886155 201889466 - 228698060 228699699 - 228510359 228512288 - 6480464 100129094 A8MVZ5 ABBA01005838;AL139288;AMYH02002847;CH471098;DY654633;NM_001287262 A8MVZ5;EAW69883;NP_001274191 Hs.730208 1698098 RH102581 BTN4;BUTR1 butyrophilin related 1;butyrophilin-like protein 10;similar to hCG2036765 protein-coding HGNC:42540 VALIDATED 1348046 BTNL4 butyrophilin-like 4 444889 HGNC:17413 1346357 BTN2A3P butyrophilin, subfamily 2, member A3, pseudogene The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A3) and BTN3 (e.g., BNT3A1; MIM 613593) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p22.1 27650899 27660096 + 26421619 26430816 + 26421391 26430588 + 1580863;6480464;8554872 11170752;12477932;14574404;14702039;16344560;20208008;20467438 54718 Q96KV6;Q96MJ0 ABBA01066556;AK056871;AK292658;AL021917;AMYH02013351;BC143636;CH471087;DA706324;DB133005;NR_027795 AAI66633;BAB71298;BAF85347;CAC69644;EAW55569;EAW55570;EAW55571;Q96KV6 Hs.729655 2172853;5015961 D15S1477;D6S2365 BTN2.3;BTN2A3 APPROVED pseudo ENSG00000124549 HGNC:13229 12546 613592 VALIDATED 1342660 BTK Bruton agammaglobulinemia tyrosine kinase The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] X X X q21.33-q22 101123894 101160669 - 100604435 100641212 - 101349447 101390796 - 1600526;1580863;5131492;6480464;6484113;6907045;7240710;8554872;8699517 15380937;8162018 10068673;10196129;10201980;10220140;10339589;10373551;10427990;10498607;10556826;10561498;10612838;10826882;10872802;10981967;11163197;11226282;11231015;11313464;11329620;11373296;11375929;11413148;11431473;11434777;11438999;11507089;11524430;11527964;11577348;11598012;11665629;11668622;11698416;11742120;11751885;11788586;11877742;11913944;11920564;11934902;12001708;12093870;12204007;12235133;12405164;12437073;12445832;12477932;12573241;12679936;12724322;12768435;12769846;12810683;12854903;12970174;14614850;14623887;14634110;14702039;14974089;15007095;15046600;15082835;15087455;15096481;15184383;15203319;15355990;15375214;15466623;15489334;15539407;15712380;15772651;15849198;15894173;15939795;16141323;16159644;16300960;16344560;16415872;16439361;16517732;16640565;16751014;16951917;16964398;16969585;17264076;17290227;17707910;17765309;17823121;17932028;18022864;18029348;18051214;18067320;18241233;18548107;18596081;18726917;18776760;18809383;19017959;19039656;1915549;19206206;19212330;19290921;19342689;19380743;19464057;19471023;19807924;19859091;19904586;19913121;19949111;19953087;20052711;20056178;20301626;20574453;20628086;20634142;20715177;20936779;21039741;21080425;21422473;21482705;21622861;21659545;21784852;21822214;21832049;21890473;21906983;21988832;21991724;22053596;22312945;22366891;22378381;22527282;22589540;22623531;22689860;22745667;22939624;23239500;23581641;23754751;23913792;23967355;23977012;24307721;24307874;24311722;24375473;24383975;24510558;24612681;24658273;24722985;24869598;2881637;7522330;7626884;7627183;7629518;7633420;7633429;7711734;7809124;7849006;7849697;7849721;7880320;7897635;7907259;7925280;7927535;7959728;7972043;8013627;8058772;8090769;8125298;8162056;8258324;8283037;8380905;8425221;8594569;8617237;8629002;8630736;8634718;8688094;8695804;8723128;8758136;8834236;8892607;9012831;9016530;9110171;9178903;9201297;9218782;9260159;9280283;9333013;9408950;9445504;9485443;9545398;9571151;9742969;9751072;9770463;9796816;9837922 695 Q06187;Q5JY90 ABBA01044974;ABBA01044975;ABBA01044976;ABBA01044977;ABBA01044978;AF153364;AF153755;AF153756;AF153757;AF153758;AF153759;AF153760;AF153761;AF153762;AF153763;AF153764;AJ888376;AJ888377;AJ888378;AJ888380;AJ888381;AK057105;AK225577;AK309851;AK314382;AL035422;AM051275;AM051276;AM051277;AM051278;AM051279;AM051280;AM051281;AM051282;AM051283;AM051284;AM051285;AM051286;AMYH02040066;AU107296;AV733045;BC109079;BC109080;CH471115;DA619542;DB331677;DB636737;KF241986;L31572;NG_009616;NM_000061;NM_001287344;NM_001287345;U10087;U13433;U78027;X58957 AAA61479;AAB60639;AAB64205;AAC51347;AAF37332;AAF37333;AAF37334;AAF37335;AAF37336;AAF37337;AAF37338;AAF37339;AAF37340;AAF37341;AAF61477;AAI09080;AAI09081;AGW32074;BAG37008;BAG51864;CAA41728;CAI59836;CAI59837;CAI59839;CAI59840;CAI59842;CAJ19681;CAJ19682;CAJ19683;CAJ19684;CAJ19685;CAJ19686;CAJ19687;CAJ19688;CAJ19689;CAJ19690;CAJ19691;CAJ19692;EAX02856;EAX02857;EAX02858;NP_000052;NP_001274273;NP_001274274;Q06187 Hs.159494;Hs.733206 1655766;1664319;1676150;1678075;1694920;1701868;1702402;1745413;2106451;2154659;2220306;5016482;5117456;7184725 BTK;BTK_4321;DXS178;DXS7424;G44349;GDB:376892;GDB:555566;GDB:555569;GDB:607597;RH35738;RH70553;RH70566;RH80171;RH93533 AGMX1;AT;ATK;BPK;IMD1;MGC126261;MGC126262;PSCTK1;XLA B-cell progenitor kinase;OTTHUMP00000023676;OTTHUMP00000023677;agammaglobulinaemia tyrosine kinase;dominant-negative kinase-deficient Brutons tyrosine kinase;truncated Bruton agammaglobulinemia tyrosine kinase;tyrosine-protein kinase BTK;tyrosine-protein kinase BTK isoform (lacking exon 14) APPROVED protein-coding ENSG00000010671 HGNC:1133 02248 300300;300755;307200 REVIEWED 1344541 BTNL6 butyrophilin-like 6 444891 HGNC:17415 1347001 BTNL7 butyrophilin-like 7 444892 HGNC:19413 1346965 BTN3A1 butyrophilin, subfamily 3, member A1 The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p22.1 27631745 27644724 + 26402465 26415444 + 26402237 26415216 + 1580863;6480464;8554872 11170752;12477932;14574404;15489334;16344560;16712791;19571809;20208008;21113407;21906983;21918970;21963094;21982860;22505724;22767497;22846996;23872678;24703779;8125298;9149941;9382921 11119 A6PVC0;A8K547;E7EPR2;E9PFB8;O00481 AA977088;ABBA01066556;AK223474;AK290193;AK291162;AK295720;AK298652;AK299327;AK311233;AL021917;AMYH02013351;BC065567;BC118586;BC121800;BG744194;BM147268;BM542639;BU178206;BU617041;CA309315;CB148209;CD110416;CH471087;DA044176;DC417480;KF458128;NM_001145008;NM_001145009;NM_007048;NM_194441;T86577;U90552;XM_005248833;XM_005248834;XM_006714983;Y07827 AAB53430;AAI18587;AAI21801;BAD97194;BAF82882;BAF83851;BAG58563;BAG60824;BAG61334;CAA69164;EAW55566;EAW55567;NP_001138480;NP_001138481;NP_008979;NP_919423;O00481;XP_005248890;XP_005248891;XP_006715046 Hs.191510 1771764;1854871;2145189;2159482;5106902 D6S2363;RH37463;STS-H72375;WI-14381;WI-18313 BT3.1;BTF5;BTN3.1;CD277;MGC141880 OTTHUMP00000016163;OTTHUMP00000164619;OTTHUMP00000222000;OTTHUMP00000222001;butyrophilin subfamily 3 member A1;dJ45P21.3 (butyrophilin, subfamily 3, member A1) APPROVED protein-coding ENSG00000026950 HGNC:1138 10693 613593 VALIDATED 1350246 BTNL3 butyrophilin-like 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH lead diacetate (ortholog); paracetamol (ortholog); pregnenolone 16alpha-carbonitrile (ortholog) 5 5 5 q35.3 176039572 176057449 + 180415845 180433727 + 180988845 181006727 + 6480464;8554872 10429365;12477932;12975309;16344560 10917 Q6UXE8 AB020625;ABBA01010087;AC091874;AK025267;AMYH02012915;AY358385;BC100800;BC100801;BC100802;CH471165;DA431389;NM_197975;XM_005265801 AAI00801;AAI00802;AAI00803;AAQ88751;BAA76664;EAW53729;EAW53730;NP_932079;Q6UXE8;XP_005265858 Hs.225949 1785324 SHGC-111734 BTN9.1;BTNLR OTTHUMP00000221218;butyrophilin-like protein 3;butyrophilin-like receptor protein-coding ENSG00000168903 HGNC:1143 08393 606192 VALIDATED 1353557 BTNL2 butyrophilin-like 2 (MHC class II associated) ENCODES a protein that exhibits receptor binding (inferred); INVOLVED IN negative regulation of T cell receptor signaling pathway (inferred); positive regulation of interleukin-2 secretion (inferred); positive regulation of T cell proliferation (inferred); ASSOCIATED WITH Melanoma (inferred); Sarcoidosis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; nickel atom (ortholog) 6 6 6 p21.3 33929258 33941628 - 32362513 32374900 - 32394736 32407123 - 6480464;7240710;8554872 10803852;12477932;15516930;15735647;16080124;16321988;16690410;16984233;17170388;17237401;17347014;17493147;17610417;17661910;17927685;18836448;18987644;19050377;19116923;19122664;19140834;19143814;19287509;19659809;19760754;19851445;19861958;19882345;19915573;19936222;20041166;20176143;20237496;20305777;20378664;20410501;20453000;20560297;20587610;20691797;21072187;21256912;21297633;21326295;21410903;21804548;21853121;21906983;22071774;22751097;22797724;22936702;22991420;23017494;23028341;23028483;23321320;23364395;23472185;23535732;23833122;23850713;23904553;24282030 56244 F6UPS5;F8WBA1;F8WDK6;Q9UIR0 ABBA01038110;ABBA01038111;AC226007;AF186588;AF186590;AF186593;AL034394;AL662796;AL670296;AL935032;AMYH02013472;AY684332;AY684333;AY881999;BC119668;BC127641;BC127642;BX255945;BX908732;CH471081;CR752644;CR753634;CR759773;CR759917;CU019529;NM_019602;XM_006726138;Z84814 AAF05530;AAI19669;AAI27642;AAI27643;AAV91022;AAV91023;AAX35330;AAX35331;CAC69895;CAI42177;CAI42180;EAX03627;EAX03628;NP_062548;Q9UIR0;XP_006726201 Hs.534471 BTL-II;BTN7;HSBLMHC1;SS2 OTTHUMP00000194895;OTTHUMP00000215336;butyrophilin-like protein 2 protein-coding ENSG00000204290 HGNC:1142 12077 606000;612387 PROVISIONAL 1349027 BTS1 bladder tumor susceptibility 1 619606 9310135 698 HGNC:1147 1351143 BTNL8 butyrophilin-like 8 INVOLVED IN immune system process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 5 5 5 q35.3 175949998 176001633 + 180326077 180377906 + 180899077 180950906 + 6480464;8554872 12477932;12975309;14702039;15340161;16344560;21982860;24036152;8125298 79908 D6R9I8;D6RIR7;Q6UX41 ABBA01010087;AC022413;AC091874;AK025111;AK225213;AK296597;AK298687;AK308012;AK309639;AMYH02012914;AY358523;BC119696;BC119697;CH471165;DA425770;NM_001040462;NM_001159707;NM_001159708;NM_001159709;NM_001159710;NM_024850;XM_006714919 AAI19697;AAQ88887;BAB15069;BAH12395;BAH12847;EAW53732;EAW53733;NP_001035552;NP_001153179;NP_001153180;NP_001153181;NP_001153182;NP_079126;Q6UX41;XP_006714982 Hs.189109 1335325;2166457 D5S2006;D5S2724 BTN9.2;FLJ21458;FLJ51528;MGC149619 B7-H5 costimulatory molecule;OTTHUMP00000161540;OTTHUMP00000221844;OTTHUMP00000221845;OTTHUMP00000221846;OTTHUMP00000221847;OTTHUMP00000221848;butyrophilin-like protein 8 protein-coding ENSG00000113303 HGNC:26131 12549 615606 VALIDATED 1353775 BTNL9 butyrophilin-like 9 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; progesterone; paracetamol (ortholog) 5 5 5 q35.3 176091046 176116223 + 180467203 180488523 + 181040205 181061523 + 6480464;8554872 12477932;12975309;14702039;15489334 153579 B7Z4Y8;Q6UXG8;Q8N324 ABBA01010089;ABBA01010090;AC008620;AC091874;AK057097;AK298113;AL833663;AMYH02012915;AY358358;BC029040;BC042112;BC062459;CH471165;CQ789638;DC379841;NM_152547;XM_005265824;XM_006714823;XM_006714824;XM_006714825 AAH29040;AAH42112;AAH62459;AAQ88724;BAB71365;BAH12724;CAG24379;EAW53724;EAW53725;EAW53726;EAW53727;EAW53728;NP_689760;Q6UXG8;XP_005265881;XP_006714886;XP_006714887;XP_006714888 Hs.546502 1728531;1735442;1847962;2133507;2146108;2165881;5037552 D5S1574E;D8S2279;G63703;RH41950;RH46520;SHGC-64030;STS-T47960 BTN3;BTN8;VDLS1900 OTTHUMP00000082750;OTTHUMP00000082751;butyrophilin 3;butyrophilin-like protein 9 protein-coding ENSG00000165810 HGNC:24176 12550 VALIDATED 7829263 BUB1P1 BUB1 mitotic checkpoint serine/threonine kinase pseudogene 1 10 10 10 123337663 123338367 + 129666182 129666886 + 127867918 127868622 + 100422363 ABBA01009091;AL157393;AMYH02024021;NG_025548 pseudo HGNC:49529 INFERRED 1606207 BUD13 BUD13 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA export from nucleus (ortholog); mRNA splicing, via spliceosome (ortholog); FOUND IN nucleus; RES complex (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 11 11 11 q23.3 113774294 113799111 - 116618886 116643714 - 116748170 116772998 - 6480464 12477932;15302935;15565172;16344560;18193044;18193046;19010793;19656773;20360068;20442857;20571754;20838585;20864672;21160409;21182205;21386085;21729881;21909109;22365833;22437554;23505323;24023261;24816145;8125298;8889548 84811 H7C462;Q9BRD0 ABBA01039748;AK057832;AK130600;AK225164;AK289635;AK291111;AK311068;AMYH02025621;AP006216;BC006350;BU731866;CA432582;CH471065;DA042987;NM_001159736;NM_032725;XR_428982 AAH06350;ABM83689;ABM86992;BAB71593;BAF82324;BAF83800;EAW67265;EAW67266;NP_001153208;NP_116114;Q9BRD0 Hs.437341 1644255;1799122;1800044;1802170;1806398;1818486;1818928;1819100;1822632;1822780;1825034;1825116;1829756;1832110;1838136;1840100;1841252;1845566;2004504;2004506;2004508;2004510;2004512;2004514;2004516;2004518;2004520;2004522;2004524;2004526;2004528;2004530;2004532;2004534;2004536;2004538;2004540;2004542;2004544;2004546;2004548;2004550;2004552;2004554;2004556;2004558;2004560;2004562;2004564;2004566;2004568;2004570;2004572;2004574;2004576;2004578;2004580;2004582;2004584;2004586;2004588;2004590;2004592;2004594;2004596;2004598;2004600;2004602;2004604;2004606;2004608;2004610;2004612;2004614;2004616;2004618;2004620;2004622;2004624;2004626;2004628;2004630;2004632;2004634;2004636;2004638;2004640;2004642;2004644;2004646;2004648;2004650;2004652;2004654;2004656;2004658;2004660;2004662;2004664;2004666;2004668;2004670;2004672;2004674;2004676;2004678;2004680;2004682;2004684;2004686;2004688;2004690;2096850;2096852;2096854;2096856;2096858;2096860;2096862;2096864;2096866;2096868;2096870;2096872;2096874;2096876;2096878;2096880;2096882;2096884;2096886;2096888;2096890;2127449;5093972 A009Z45;ECD00407;ECD00877;ECD01967;ECD04155;ECD10304;ECD10528;ECD10616;ECD12404;ECD12478;ECD13616;ECD13659;ECD16010;ECD17193;ECD20240;ECD21234;ECD21822;ECD24001;G33031;REN73164;REN73165;REN73166;REN73167;REN73168;REN73169;REN73170;REN73171;REN73172;REN73173;REN73174;REN73175;REN73176;REN73177;REN73178;REN73179;REN73180;REN73181;REN73182;REN73183;REN73184;REN73185;REN73186;REN73187;REN73188;REN73189;REN73190;REN73191;REN73192;REN73193;REN73194;REN73195;REN73196;REN73197;REN73198;REN73199;REN73200;REN73201;REN73202;REN73203;REN73204;REN73205;REN73206;REN73207;REN73208;REN73209;REN73210;REN73211;REN73212;REN73213;REN73214;REN73215;REN73216;REN73217;REN73218;REN73219;REN73220;REN73221;REN73222;REN73223;REN73224;REN73225;REN73226;REN73227;REN73228;REN73229;REN73230;REN73231;REN73232;REN73233;REN73234;REN73235;REN73236;REN73237;REN73238;REN73239;REN73240;REN73241;REN73242;REN73243;REN73244;REN73245;REN73246;REN73247;REN73248;REN73249;REN73250;REN73251;REN73252;REN73253;REN73254;REN73255;REN73256;REN73257;WI-18293;stSG601742;stSG601743;stSG601744;stSG601745;stSG601746;stSG601747;stSG601748;stSG601749;stSG601750;stSG601751;stSG601752;stSG601753;stSG601754;stSG601755;stSG601756;stSG601757;stSG601758;stSG601759;stSG601760;stSG601761;stSG601762 Cwc26;FLJ27090;MGC13125;fSAP71 BUD13 homolog;OTTHUMP00000042639;OTTHUMP00000042640;functional spliceosome-associated protein 71 protein-coding ENSG00000137656 HGNC:28199 11307 VALIDATED 1347748 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012] 10 10 10 q24.32 96852547 97055847 + 103113790 103317078 + 101354033 101557321 + 1580863;2293188;5510026;6480464;6907045;5490225 18432252;20635334;21135871 10023660;10066435;10072378;10074433;10075690;10213692;10228155;10331953;10514424;10514433;10531035;10564661;10644755;10713156;10803460;10828603;10835356;10918611;10983987;11001584;11027288;11158290;11238952;11278695;11359933;11483504;11696595;11818547;11850407;11953428;11994270;12037680;12077367;12114015;12124804;12151397;12417018;12477932;12482991;12504025;12609982;12684064;12791267;12820959;12902344;14516475;14526201;14561767;14603323;14673179;14674748;14676825;14681206;14706645;14743216;14752276;14988407;15070733;15140882;15314162;15340078;15448698;15469984;15485837;15489334;15647282;15735746;15743413;15782160;15798217;15845771;15855639;15917222;15927956;15966899;16165251;16189514;16196087;16219772;16275325;16278670;16303288;16338364;16344560;16354571;16371461;16385451;16651270;16691619;16705181;16757476;16778892;16798748;16865698;16885021;16885022;17053147;17079684;17121803;17213322;17215248;17217622;17283138;17295679;17318178;17319651;17327410;17387146;17445772;17463251;17491012;17500058;17510365;17586316;17676996;17937819;17939994;17965458;18052253;18056411;18296647;18316598;18354482;18354483;18363964;18372914;18378770;18460583;18521620;18541215;18575781;18617892;18650423;18662541;18672082;18765672;18794143;18851830;19053519;19061640;19106159;19150432;19159283;19196987;19240029;19240121;19244337;19297328;19372209;19411070;19477924;19478868;19515779;19557001;19615732;19647520;19656241;19730691;19797085;19822658;19931512;19933270;19944437;19955572;19966869;20048001;20068069;20102634;20140206;20201792;20348946;20353940;20378537;20379614;20442859;20503246;20516151;20531388;20558726;20625400;20638939;20708156;20736409;20797629;20844743;20852628;20858893;20980512;21051950;21070969;21138764;21139048;21145461;21173164;21189257;21249194;21310048;21402774;21430439;21454620;21466614;21521785;21572392;21807946;21900206;21910689;21946088;21987572;21988832;22017875;22017876;22017877;22022389;22034227;22045853;22078877;22087322;22090097;22190034;22350919;22388891;22454292;22514278;22586265;22590978;22669845;22682247;22692215;22711876;22730322;22751928;22851693;22912335;22939624;22964642;22975506;23027877;23056346;23071779;23115237;23297342;23308067;23440515;23453757;23455922;23514615;23530064;23532963;23546975;23563313;23583392;23607312;23624913;23640883;23737552;23769673;23861398;23912711;23972993;24211209;24211253;24248593;24250222;24269809;24318128;24429874;24451375;24464578;24469040;24500709;24501426;24657926;24700029;24709419;24737324;24760862;24785407;24811168;24912152;25124033;8889548;9660940;9859996;9990852;9990853 8945 B2R8L3;B7Z3H4;Q5T1W7;Q68DS0;Q9Y297 AA824369;ABBA01063193;ABBA01063194;ABBA01063195;ABBA01063196;ABBA01063197;ABBA01063198;ABBA01063199;AF101784;AF129530;AK295870;AK313353;AK313417;AK314880;AL133387;AL445463;AL627424;AL707686;AL833133;AMYH02023674;AMYH02023675;AMYH02023676;AMYH02023677;AY207475;AY207476;BC006204;BC027994;BC063673;BM680713;BQ188694;BX389753;CH471066;CR749295;DA218668;GU727631;NG_009234;NM_001256856;NM_003939;NM_033637;XM_005270264;XM_006718054;XR_428727;Y14153 AAD08702;AAF04464;AAH27994;AAO59171;AAO59172;ADU87633;ADZ15431;BAG36155;BAG36210;BAG37395;BAH12210;CAA74572;CAH18150;EAW49770;EAW49771;EAW49772;EAW49773;EAW49774;NP_001243785;NP_003930;NP_378663;Q9Y297;XP_005270321;XP_006718117 Hs.643802 1732689;2106965;2114541;2127482;2151481;2177433 BTRC_7931;D10S1167;D10S1239;D10S1240;WI-16946;WIAF-1661 BETA-TRCP;FBW1A;FBXW1;FBXW1A;FWD1;MGC4643;bTrCP;bTrCP1;betaTrCP E3RSIkappaB;F-box and WD repeats protein beta-TrCP;F-box and WD-repeat protein 1B;F-box/WD repeat-containing protein 1A;OTTHUMP00000020314;OTTHUMP00000020315;beta-TrCP1;epididymis tissue protein Li 2a;pIkappaBalpha-E3 receptor subunit APPROVED protein-coding ENSG00000166167 HGNC:1144 04596 603482 REVIEWED 1323304 BUB1 BUB1 mitotic checkpoint serine/threonine kinase This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 2 2 2 q14 105046046 105086323 - 111395275 111435684 - 110637698 110678107 - 1600539;1580863;6480464;6907045;8554872 9521327 10198256;10366450;10969775;11134360;11283619;11352911;11782350;11792804;11999574;12096343;12375025;12419313;12477932;12655561;12782591;14702039;15013707;15020684;15342556;15388328;15489334;15525512;15604152;15723797;15818396;15931389;15933723;16046481;16189514;16449967;16525682;16760428;17158872;17210994;17227893;17388661;17488820;17617734;17620410;17925231;17981135;18029348;18036341;18383837;18547097;18791270;18922873;18995837;19015261;19141287;19182530;19242126;19252416;19465021;19487456;19946888;20220147;20231385;20309963;20360068;20468071;20628624;20643875;20660191;20929775;21092550;21139048;21199919;21646403;21963094;21988832;22071147;22099307;22505724;22660415;23288590;23383610;23443559;23728478;23747338;24055156;24250222;24654460;24711138;24756216;8125298;9441741;9660858;9790499;9914370 699 B4DYG2;C9IYH4;C9JQA4;C9JRC7;O43683 ABBA01001561;AC114776;AC226101;AF011387;AF043294;AF046078;AF047471;AF053305;AF139363;AF264055;AI635394;AK023540;AK225317;AK291221;AK302418;AMYH02004567;BC017038;BC028201;BP313176;CH471237;DB453210;HC250947;HC311136;NG_012048;NM_001278616;NM_001278617;NM_004336 AAB97855;AAC03122;AAC06259;AAC12729;AAC39546;AAD43675;AAH17038;AAH28201;AAK29549;AAY14706;ADZ15937;BAF83910;BAG63724;CBJ05771;CBJ21223;EAW50355;NP_001265545;NP_001265546;NP_004327;O43683 Hs.469649 1299936;2107901;2116695;2158007 151XD12;AFMa037yb9;BUB1_8234;D2S1888 BUB1A;BUB1L;hBUB1 BUB1 budding uninhibited by benzimidazoles 1 homolog;OTTHUMP00000204238;OTTHUMP00000204239;budding uninhibited by benzimidazoles 1 homolog;mitotic checkpoint serine/threonine-protein kinase BUB1;mitotic spindle checkpoint kinase;putative serine/threonine-protein kinase APPROVED protein-coding ENSG00000169679 HGNC:1148 03907 602452 REVIEWED 1316316 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008] 15 15 15 q15 17219190 17279313 + 40453210 40513337 + 40161009 40221136 + 1580863;1600540;2326105;2324871;6480464;6907045;7240710;8554872;8699517 15475955;17242465;18497548 10366450;10477750;10593653;10749118;11030144;11129339;11256614;11274370;11283619;11285280;11535616;11702782;11742988;11782350;11792804;11907259;12196507;12388768;12419313;12445743;12477932;12925705;14576821;14593737;14706340;15190214;15388328;15504738;15525512;15592459;16144904;16227576;16411201;16449973;16760428;17210994;17227893;17268814;17350465;17360335;17363900;17376779;17443186;17464181;17478512;17498870;17598981;17676298;17981135;18286482;18440313;18547097;18591651;18654987;18691855;18699967;18710370;18932004;18997788;19015317;19074885;19098431;19117984;19139399;19139432;19154722;19407811;19411850;19465021;19468067;19503101;19550118;19603021;19745606;19789190;19820702;19926498;20132214;20146332;20189264;20204288;20220147;20231385;20237434;20360068;20453000;20459534;20512932;20516114;20733051;21069850;21139048;21199919;21335556;21336306;21389084;21407176;21472690;21525009;21550059;21890473;21906983;21926987;21937719;21988832;22000412;22048964;22100920;22118674;22167194;22193957;22374677;22566641;22698286;22801780;22863883;23007861;23079597;23091007;23128493;23154965;23160376;23239745;23345399;23370767;23392733;23400934;23440991;23443559;23455478;23475578;23536579;23643811;23728478;23754430;23791783;23812934;24067371;24156017;24292274;24581499;24816145;24825348;25012665;9482735;9521327;9618306;9660858;9763420;9889005;9914370 701 H0YMK5;H0YN44;O60566 AB208782;ABBA01038457;ABBA01038458;AC025429;AF035933;AF046079;AF046918;AF053306;AF068760;AF107297;AF310214;AF441125;AI742619;AK296795;AK296984;AK312709;AL597325;AMYH02030232;AMYH02030233;AMYH02030234;BC018739;CH471125;NG_016338;NM_001211 AAC06260;AAC12730;AAC19118;AAC23736;AAC33435;AAD11941;AAH18739;AAL10712;ADZ15521;BAD92019;BAG35587;BAG59371;BAG59525;EAW92394;NP_001202;O60566 Hs.513645 2171962 RH46590 BUB1beta;BUBR1;Bub1A;MAD3L;MVA1;SSK1;hBUBR1 MAD3/BUB1-related protein kinase;OTTHUMP00000160319;budding uninhibited by benzimidazoles 1 homolog beta;mitotic checkpoint kinase MAD3L;mitotic checkpoint serine/threonine-protein kinase BUB1 beta APPROVED protein-coding ENSG00000156970 HGNC:1149 04176 114500;176430;257300;602860 REVIEWED 1315390 BUB3 BUB3 mitotic checkpoint protein This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 10 10 10 q26 118620291 118631417 + 124913760 124924886 + 123154244 123165370 + 1580863;6480464;6907045 10198256;10366450;10828586;11129339;11283619;11285280;11352911;11535616;11702782;11742988;12011073;12217960;12242018;12419313;12477932;12549820;12762840;14593737;15302935;15342556;15388328;15489334;15525512;15635413;15796961;16055720;16760428;17268814;17289665;17332742;18029348;18199686;18729074;18781797;19182530;19322201;19615732;19738201;20220147;20734064;21110914;21139048;21145461;21525009;21853274;21890473;21906983;21907836;21926987;21937719;21963094;21987572;21988832;22000412;22053931;22100920;22193957;22365833;22505724;22623428;22863883;22939629;23000965;23160376;23443559;23643811;23747338;23791783;23956138;23974796;24045676;24250222;24332808;24654937;24711138;24816145;25012665;25015289;25027693;9660858 9184 B4DDM6;J3QSX4;J3QT28;O43684 ABBA01062836;AC012391;AF047472;AF047473;AF053304;AF081496;AK293255;AK307958;AK312546;AMYH02023960;AMYH02023961;BC005138;BC022438;BM989334;BP328027;BU932619;BX647392;CH471066;NG_033794;NM_001007793;NM_004725 AAC06258;AAC28438;AAC28439;AAC36307;AAH05138;AAH22438;ABM82778;ABM85968;BAG35444;BAG56787;EAW49284;EAW49285;EAW49286;EAW49287;NP_001007794;NP_004716;O43684 Hs.418533 2138716;2150048;5017467 RH78800;SHGC-64047;UniSTS:502432 BUB3L;hBUB3 BUB3 budding uninhibited by benzimidazoles 3 homolog;OTTHUMP00000020679;OTTHUMP00000020680;OTTHUMP00000020682;budding uninhibited by benomyl;budding uninhibited by benzimidazoles 3 homolog;mitotic checkpoint component;mitotic checkpoint protein BUB3 APPROVED protein-coding ENSG00000154473 HGNC:1151 04761 603719 REVIEWED 1347250 BVR1 Burkitt lymphoma variant rearranging region 1 700 M16601 HGNC:1153 1353106 BVES-AS1 BVES antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 6 6 6 q21 106207712 106239953 + 105585562 105617820 + 105137687 105169945 + 8554872 14574404;17974005;21654844 154442 Q5T3Y7 ABBA01014398;ABBA01014399;AL137368;AL356775;AL359709;AMYH02014226;HG499479;HG499481;NR_037157 Q5T3Y7 Hs.586271 1674928;1688490;1786058;2159781 RH46697;RH93144;SHGC-155565;WI-15170 C6orf112;DKFZp434F2226;bA99L11.2 chromosome 6 open reading frame 112 APPROVED ncrna ENSG00000203808 HGNC:21223 VALIDATED 1604400 BUD31 BUD31 homolog (S. cerevisiae) ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription from RNA polymerase II promoter (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 7 7 7 q22.1 93740801 93751440 + 99006243 99017239 + 99408641 99419616 + 6480464;6907045 12477932;12690205;12853948;15489334;21139048;21628590;21832049;21890473;21906983;21988832;22365833;22939629;22944692;23000965;24457600;24816145;7841202 8896 C9JCD9;C9JNV2;F8WCN7;P41223 ABBA01013263;AC004922;AK297784;AK316477;AMYH02016360;BC022821;BC104670;CH236956;CH471091;CR456951;NM_003910;S77329;U11861;XM_005250670;XM_005250671;XM_005250672;XM_005250673;XM_005250674 AAA20008;AAB33291;AAH22821;AAI04671;BAH12665;BAH14848;CAG33232;EAL23881;EAW76670;EAW76671;EAW76672;EAW76673;NP_003901;P41223;XP_005250727;XP_005250728;XP_005250729;XP_005250730;XP_005250731 Hs.380233 1693582 SHGC-58489 Cwc14;EDG-2;EDG2;G10;MGC111202;YCR063W;fSAP17 G10 maternal transcript homolog;OTTHUMP00000206247;OTTHUMP00000206248;OTTHUMP00000206249;OTTHUMP00000206250;functional spliceosome-associated protein 17;maternal G10 transcript;protein BUD31 homolog;protein G10 homolog protein-coding ENSG00000106245 HGNC:29629 10351 603477 VALIDATED 1344210 BVES blood vessel epicardial substance This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] 6 6 6 q21 106167189 106206693 - 105544697 105585049 - 105096822 105137174 - 1302855;1580863;6480464;8554872 10882522 10441744;12477932;15489334;16188940;17207965;18349282;18391951;19448622;20546612;20627872;21069264;21283798;21911938;22109561;22354168;23403794;24250222;24442236 11149 Q8NE79 ABBA01014399;ABBA01014400;AF204172;AK289979;AL356775;AMYH02014225;AMYH02014226;BC034425;BC040502;CH471051;NM_001199563;NM_007073;NM_147147;Z95329 AAG23405;AAH34425;AAH40502;ADQ32332;BAF82668;EAW48430;EAW48431;EAW48432;NP_001186492;NP_009004;NP_671488;Q8NE79 Hs.221660 1650344;2150474;5015881;5016781;5022651;5037552 AFMA125XC1;D11S2921;D6S1121E;D8S2279;GDB:335751;SHGC-67307 HBVES;MGC42413;POP1;POPDC1 OTTHUMP00000016910;OTTHUMP00000016911;OTTHUMP00000242208;popeye domain containing 1;popeye domain-containing protein 1;popeye protein 1 APPROVED protein-coding ENSG00000112276 HGNC:1152 06842 604577 REVIEWED 6770613 BZRAP1-AS1 BZRAP1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH valproic acid 17 17 17 52864591 52892877 + 56402811 56431088 + 58325450 58353727 + 6480464;8554872 12477932;14702039 100506779 ABBA01041333;ABBA01041334;AC004687;AI056234;AK000271;AK090885;AK311208;AK311306;AK311311;AMYH02033687;AV732878;BC032475;BC050403;BC064565;BI820069;HG509276;HG509277;HG509278;HG509279;HG509280;HG509281;HG509283;HG509285;HG509286;NR_038410;NR_038411;NR_038412;NR_038413;NR_038414;NR_038415;NR_038416;NR_038417;NR_038418 Hs.718477 1661589;1665695;1672042;1682421;1693448;1767703;1777933;2176709;2187152 D17S1419E;G42387;RH35987;RH45569;RH68148;RH70634;RH93017;STS-H72889;WI-11652 RP5-1171I10.4 APPROVED ncrna ENSG00000265148 HGNC:44148 VALIDATED 2301778 BZW1P1 basic leucine zipper and W2 domains 1 pseudogene 1 3 3 3 q26.31 170540576 170543554 - 172141985 172144887 - 172424195 172427097 - 391592 ABBA01058652;ABBA01058653;AC069523;AMYH02008147;NG_008827 1689077 RH65648 pseudo HGNC:31378 INFERRED 1353488 C10orf102 chromosome 10 open reading frame 102 q22.2 414244 AC022400 RP11-574K11.12 protein-coding HGNC:31431 1347888 BZW1 basic leucine zipper and W2 domains 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm; membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; acetylsalicylic acid 2 2 2 q33 195431568 195443290 + 201676262 201688569 + 200811546 200823846 + 1302740;6480464 11524015 10942595;10964520;11101529;12477932;14702039;15489334;15815621;16964243;17081983;17353931;18654987;18781797;19446954;19946888;21139048;21319273;21734401;21890473;21906983;21963094;22053931;22505724;22863883;22939629;23000965;24816145;7584026;7584028;8125298 9689 C9IZ80;C9J188;C9JFN4;C9JV57;C9JWF5;H0Y503;Q3LIC9;Q7L1Q6 AA868237;AB074176;ABBA01062521;AC007163;AK096489;AK223245;AK297227;AK301511;AL833518;AMYH02005541;BC001804;BC026303;CB055242;CH471063;D13630;DC386317;DC409063;NM_001207067;NM_001207068;NM_001207069;NM_014670;Z70221 AAH01804;AAH26303;AAX93286;ABM84154;ABM87556;BAA02795;BAD96965;BAE45739;BAG53303;BAG59710;BAG63019;CAA94180;EAW70212;EAW70213;NP_001193996;NP_001193997;NP_001193998;NP_055485;Q7L1Q6 Hs.355983;Hs.736074 1673874;1676342;1685742;1689077;1693748;1728871;5125439 G15932;G54452;RH25246;RH65648;RH67925;SHGC-58821;SHGC-77255 BZAP45;KIAA0005;Nbla10236 OTTHUMP00000206080;OTTHUMP00000206082;OTTHUMP00000206083;OTTHUMP00000206084;OTTHUMP00000206086;basic leucine zipper and W2 domain-containing protein 1;basic leucine-zipper protein BZAP45;protein Orf;putative protein product of Nbla10236 protein-coding ENSG00000082153 HGNC:18380 16570 VALIDATED 1352999 BYSL bystin-like Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 43441757 43453576 + 41888965 41900784 + 41921227 41933046 + 1580863;2316201;6480464 15305856 10026108;12477932;14633596;15489334;16189514;16713569;17081983;17360433;17381424;17917702;18029348;19471022;19738201;19820697;19862010;19946888;20139978;20805244;21048031;21139048;21145461;21693764;21832049;21890473;21906983;21963094;22505724;22586326;22797925;22863883;22939629;23184937;23263863;24250222;24457600;24778252;24816145;9560222;9925933 705 F8WBL2;H7BY94;Q13895 ABBA01050744;ABBA01050745;AK314147;AL160163;AMYH02013614;BC007340;BC050645;BC062627;CH471081;L36720;NM_004053 AAC16603;AAH07340;AAH50645;AAH62627;ABM83840;ABM87162;EAX04069;NP_004044;Q13895 Hs.106880 1795452;2183548 BYSL_1485;RH15844 OTTHUMP00000016385;by the ribosomal protein s6 gene, drosophila, homolog-like;bystin APPROVED protein-coding ENSG00000112578 HGNC:1157 04848 603871 REVIEWED 1352536 C10orf10 chromosome 10 open reading frame 10 The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41474883 41477504 - 45471709 45474330 - 44976261 44978882 - 6480464 11076863;11230166;11256614;12477932;14702039;15164054;15489334;15489336;15977181;16123073;16189514;16344560;16381901;16385451;16713569;19060904;19937567;20822508;20877624;21510935;24530860;24936657 11067 Q9NTK1;X6RKE0 AB022718;AB025244;ABBA01050023;AK002191;AK098476;AK300839;AK312496;AL136653;AL353801;AMYH02022729;BC011402;CH471160;DB030770;NM_007021 AAH11402;ABM82987;ABM86180;BAA74504;BAC87794;BAG35398;BAG51027;BAG62490;CAB66588;CAL38369;EAW86629;NP_008952;Q9NTK1 Hs.93675 1736028;2119900 A002O19;D10S1304E DEPP;FIG;Fseg OTTHUMP00000019496;OTTHUMP00000019497;decidual protein induced by progesterone;fasting induced;fasting-induced gene protein;fasting-induced protein;fat-specific expressed APPROVED protein-coding ENSG00000165507 HGNC:23355 12558 611309 REVIEWED 1346064 C10orf105 chromosome 10 open reading frame 105 ASSOCIATED WITH Deafness, Autosomal Recessive 12 (inferred); Lung Neoplasms (inferred); Usher syndrome, type 1D (inferred); FOUND IN integral component of membrane (inferred) 10 10 10 q22.1 66753897 66780020 - 73471458 73497581 - 71711701 71737824 - 8554872 12477932 414152 B1AVV1;Q8TEF2 ABBA01020374;AK074172;AK123442;AL731541;AMYH02023302;BC071608;BF508486;CH471083;NG_008835;NM_001164375;NM_001168390 BAB84998;EAW54433;NP_001157847;NP_001161862;Q8TEF2 Hs.568788 2138594 STS-N39237 FLJ00245 hypothetical protein LOC414152;uncharacterized protein C10orf105 protein-coding ENSG00000214688 HGNC:20304 VALIDATED 1346920 BZRAP1 benzodiazepine receptor (peripheral) associated protein 1 ENCODES a protein that exhibits benzodiazepine receptor binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; mitochondrion; INTERACTS WITH 17beta-estradiol; hydroquinone O-beta-D-glucopyranoside; mycophenolic acid 17 17 17 q22-q23 52840368 52867932 - 56378588 56406152 - 58301227 58328791 - 1302420;1580863;6480464;8554872 9915832 10737800;12477932;15489334;17855024;19557195;21078624;22745667;24722188;9734811 9256 A7E2C5;B2RUT8;B7ZVZ7;J3KSY4;J3KT64;O95153;X5DQQ3 AB014512;ABBA01041332;ABBA01041333;AC004687;AF039571;AI811889;AMYH02033687;BC031401;BC146852;BC150279;BC171787;BE246483;BF934025;BX648763;CH471109;KJ534781;KJ534782;KJ534783;KJ534784;KJ534785;KJ534786;KJ534787;KJ534788;KJ534789;KJ534790;KJ535016;KJ535062;NM_001261835;NM_004758;NM_024418;XM_005257807;XM_006722173;XM_006722174;XM_006722175;XM_006722176;XM_006722177;XM_006722178 AAD11957;AAH31401;AAI46853;AAI50280;AAI71787;AHW56421;AHW56422;AHW56423;AHW56424;AHW56425;AHW56426;AHW56427;AHW56428;AHW56429;AHW56430;AHW56655;AHW56701;BAA31587;EAW94468;EAW94469;NP_001248764;NP_004749;NP_077729;O95153;XP_005257864;XP_006722236;XP_006722237;XP_006722238;XP_006722239;XP_006722240;XP_006722241 Hs.112499 2107903 BZRAP1_8916 DKFZp686F02123;KIAA0612;PBR-IP;PRAX-1;PRAX1;RIM-BP1;RIMBP1 RIMS-binding protein 1;benzodiazapine receptor (peripheral) associated protein 1;benzodiazapine receptor peripheral-associated protein 1;peripheral benzodiazepine receptor-associated protein 1;peripheral benzodiazepine receptor-interacting protein;peripheral-type benzodiazepine receptor-associated protein 1 APPROVED protein-coding ENSG00000005379 HGNC:16831 09832 610764 VALIDATED 1353258 C10orf106 chromosome 10 open reading frame 106 414246 HGNC:31433 731291 BZW2 basic leucine zipper and W2 domains 2 INVOLVED IN cell differentiation (inferred); nervous system development (inferred); FOUND IN membrane; INTERACTS WITH (+)-catechin; all-trans-retinoic acid; diazinon 7 7 7 p21.1 16665515 16725894 + 16685759 16746148 + 16646134 16706523 + 6480464 11042152;12477932;12690205;12853948;14702039;15489334;15635413;17081983;17353931;18781797;19322201;19454010;19738201;19913121;19946888;20379614;20628086;21139048;21745818;21890473;21900206;21906983;21963094;22053931;22863883;23000965;23383273;23455922;23535033;23956138;24654937;24816145;25036637 28969 B5MCE7;B5MCH7;C9JF98;E7EMS9;E7ETZ4;E9PFD4;F8WDX8;Q75MG1;Q9Y6E2 ABBA01056632;ABBA01056633;ABBA01056634;AC073201;AC073333;AF083246;AF110323;AK001218;AK001260;AK027837;AK297496;AK300655;AMYH02015305;AX876247;BC001570;BC003056;BC008453;BC009597;BC017794;BC051898;BC107757;CH236948;CH471073;NM_001159767;NM_014038;NR_027624;XM_006715706;XM_006715707;XM_006715708 AAD39844;AAG39278;AAH03056;AAH08453;AAH09597;AAH17794;AAI07758;AAS07544;ABM83422;ABM86634;BAA91562;BAB55401;BAG50880;BAH12594;BAH13321;CAE89186;EAL24285;EAW93675;EAW93676;EAW93677;EAW93678;EAW93679;NP_001153239;NP_054757;Q9Y6E2;XP_006715769;XP_006715770;XP_006715771 Hs.487635 1670628;2110287;2123838;2153596;2176495 BZW2_9566;D7S1766;GDB:1318220;RH36275;SHGC-55976 HSPC028;MST017;MSTP017 OTTHUMP00000161321;OTTHUMP00000201712;OTTHUMP00000201748;OTTHUMP00000201749;basic leucine zipper and W2 domain-containing protein 2;hfb2 protein protein-coding ENSG00000136261 HGNC:18808 16571 VALIDATED 2298828 BZW1P2 basic leucine zipper and W2 domains 1 pseudogene 2 3 3 3 q13.31 114771072 114773381 - 116363085 116365571 - 116644238 116646724 - 16641997 151579 ABBA01061611;AC108687;AMYH02007479;NG_022890 1673874;1676342;1685742;1728871 G15932;G54452;RH25246;RH67925 BZW1L1 APPROVED pseudo HGNC:33954 INFERRED 1315529 C10orf107 chromosome 10 open reading frame 107 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cisplatin (ortholog); indole-3-methanol (ortholog) 10 10 10 q21.2 56689752 56792965 + 63422709 63526524 + 61662951 61766766 + 737633;6480464 12477932 15489334;16385451;17207965;19430483;20379614;20542020;20852445;21045733;21909110;23006423;23251661 219621 H0Y3I3;Q8IVU9 ABBA01019478;ABBA01019479;ABBA01019480;AC022398;AL451049;AMYH02023182;AMYH02023183;AMYH02023184;BC041932;CH471083;NM_173554;XM_005269598;XM_005269599;XM_005269600;XM_006717690;XM_006717691;XM_006717692 AAH41932;ADQ32480;EAW54221;EAW54222;EAW54223;EAW54224;NP_775825;Q8IVU9;XP_005269655;XP_005269656;XP_005269657;XP_006717753;XP_006717754;XP_006717755 Hs.673160 1339863;1704054;1708580;1753863 D10S1640;SHGC-108039;SHGC-77852;SHGC-85079 MGC44593;bA63A2.1 OTTHUMP00000019665;hypothetical protein LOC219621;uncharacterized protein C10orf107 protein-coding ENSG00000183346 HGNC:28678 12559 VALIDATED 1606384 C10orf113 chromosome 10 open reading frame 113 10 10 10 p12.31 21101350 21122146 - 21414692 21435488 - 21125763 21146559 - 12477932;15164054;23535730 387638 Q5VZT2 ABBA01034505;AI806552;AL158160;AMYH02022416;BC140744;BC144447;NG_017092;NM_001010896;NM_001177483 AAI40745;NP_001010896;NP_001170954;Q5VZT2 Hs.664110 5113034 RH66460 bA165O3.1 OTTHUMP00000019267;OTTHUMP00000235929;putative uncharacterized protein C10orf113 protein-coding ENSG00000204683 HGNC:31447 16573 VALIDATED 1323299 C10orf12 chromosome 10 open reading frame 12 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 10 10 10 q24.1 92482640 92487184 + 98741041 98745585 + 96981284 96985828 + 6480464;8554872 12477932;14702039;15164054;15489334;16189514;21890473;24457600;24550272 26148 Q8N655 ABBA01021819;AK023084;AK025166;AK126886;AL049938;AL442123;AMYH02023602;BC024315;BC031482;NM_015652 AAH24315;AAH31482;BAB14396;CAB43214;NP_056467;Q8N655 Hs.14555;Hs.427927 2134778 D10S2419 DKFZp564P1916;FLJ13022 OTTHUMP00000020178;hypothetical protein LOC26148;uncharacterized protein C10orf12 protein-coding ENSG00000155640 HGNC:23420 12563 PROVISIONAL 1345714 C10orf124 chromosome 10 open reading frame 124 q26.3 440012 AL691429 CAI17262 bB137A17.2 protein-coding HGNC:31655 1343828 C10orf111 chromosome 10 open reading frame 111 FOUND IN integral component of membrane (inferred); INTERACTS WITH dimethyl sulfoxide; silicon dioxide 10 10 10 p13 15066016 15067950 - 15137384 15139318 - 15095385 15097319 - 737633;6480464 12477932 15164054;15489334;24250222 221060 Q8N326 ABBA01034599;AK314131;AL590365;AMYH02022205;BC029034;BC036401;NM_153244 AAH29034;ADZ15789;BAG36821;NP_694976;Q8N326 Hs.567777 5037552 D8S2279 MGC35468;bA455B2.4 OTTHUMP00000019199;hypothetical protein LOC221060;uncharacterized protein C10orf111 protein-coding ENSG00000176236 HGNC:28582 16572 PREDICTED 1343385 C10orf123 chromosome 10 open reading frame 123 q26.3 414258 AL392043;AL691429 CAI39951 bA288G11.5 protein-coding HGNC:31654 1346015 C10orf131 chromosome 10 open reading frame 131 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 10 q24.1 91408931 91439619 + 97667722 97698415 + 95907965 95938658 + 8554872 15164054;24250222 100127889 A6NCD4;R4GN90 ABBA01021833;AK294399;AL365273;AL513355;AMYH02023583;NM_001130446 A6NCD4;BAG57652;NP_001123918 Hs.719076 2170211 SHGC-30780 FLJ10895;bA690P14.3 hypothetical protein LOC100127889;uncharacterized protein C10orf131 protein-coding ENSG00000173088 HGNC:31667 PREDICTED 1352264 C10orf138 chromosome 10 open reading frame 138 414234 HGNC:30374 1354019 C10orf133 chromosome 10 open reading frame 133 414267 HGNC:31669 1351198 C10orf14 chromosome 10 open reading frame 14 15164054 414171 HGNC:23430 1321229 C10orf11 chromosome 10 open reading frame 11 INVOLVED IN melanocyte differentiation; ASSOCIATED WITH ALBINISM, OCULOCUTANEOUS, TYPE V (inferred); Autosomal recessive inheritance (inferred); Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 10 10 10 q22.3 70831521 71605978 + 77191217 78317133 + 75431459 76557375 + 6480464;8699517;8554872;7240710 14702039;16385451;16964243;19844253;19901119;20379614;21946350;22180457;23284291;23395477;23568457;23932459 83938 M0R2H0;Q9H2I8 ABBA01020246;ABBA01020247;ABBA01020248;AC010997;AC012047;AC012048;AC013286;AC024603;AF267860;AK125328;AL136451;AL589863;AL596260;AL607027;AL645925;AL731568;AMYH02023368;AMYH02023369;AMYH02023370;AMYH02023371;CH471083;CR933639;KF455263;KF455264;NM_032024;XM_005270212 AAG44729;EAW54585;EAW54586;EAW54587;NP_114413;Q9H2I8;XP_005270269 Hs.118161;Hs.690504 1335229;1338564;1338924;1645454;1650409;1657303;1664547;1677486;1679896;1701346;1706520;1710770;1718079;1722947;1724857;1724949;1725049;1752621;1757567;1760661;1768185;1774726;1790293;1851620;2113942;2126289;2138147;2145760;2146460;2154070;2155460;7183685;7186028;7186529;7186845 AB056408;AFM206YG1;D10S1699;D10S195;D10S2266;D10S580;D3S3970;G17476;G18060;G28019;G60571;KS701;RH104303;RH118820;RH119191;RH119242;RH122658;RH17561;RH44932;RH65118;RH65409;RH70106;RH80991;RH91322;SGC34457;SHGC-106442;SHGC-144206;SHGC-145029;SHGC-81232;SHGC-84049;STS-N25920 CDA017;OCA5;OCA7 OTTHUMP00000019889;OTTHUMP00000019890;leucine-rich repeat-containing protein C10orf11;oculocutaneous albinism 7, autosomal recessive protein-coding ENSG00000148655 HGNC:23405 12560 614537;615179 PROVISIONAL 1344407 C10orf128 chromosome 10 open reading frame 128 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH C60 fullerene (ortholog) 10 10 10 q11.23 43949478 43982598 - 50363890 50396640 - 49154724 49188595 - 737633;6480464;8554872 12477932 16344560 170371 G3V182;Q5T290;Q5T292 ABBA01041074;ABBA01041075;AC084727;AK303891;AL441885;AL524299;AL832399;AMYH02022985;BC031641;BC037922;BC042857;BC047724;BC104438;BC104439;BU145920;CB530036;CH471187;DA366138;DC389158;DQ884399;NM_001010863;NM_001288740;NM_001288741;NM_001288742;NM_001288743;XM_006717655 ABI63366;BAH14074;EAW93107;EAW93108;EAW93109;EAW93110;NP_001010863;NP_001275669;NP_001275670;NP_001275671;NP_001275672;Q5T292;XP_006717718 Hs.385493 1689430;1709444;1765471;2147366 RH93539;SHGC-148957;SHGC-81764;STS-AA041552 OTTHUMP00000019573;OTTHUMP00000019574;OTTHUMP00000019575;putative uncharacterized protein C10orf128 protein-coding ENSG00000204161 HGNC:27274 PREDICTED 1604915 C10orf120 chromosome 10 open reading frame 120 ASSOCIATED WITH Melanoma (inferred) 10 10 10 q26.13 118163641 118165754 - 124457225 124459338 - 122697709 122699822 - 8554872 12477932;15164054;15489334 399814 H0Y758;Q5SQS8 ABBA01062840;AL704711;AL731543;AMYH02023956;AMYH02023957;BC065903;BC140922;CH471066;NM_001010912 AAI40923;EAW49307;NP_001010912;Q5SQS8 Hs.363649;Hs.745528 bA318C4.1 OTTHUMP00000020665;OTTHUMP00000020666;hypothetical protein LOC399814;uncharacterized protein C10orf120 protein-coding ENSG00000183559 HGNC:25707 16577 PREDICTED 7245990 C10orf126 chromosome 10 open reading frame 126 10 10 p12.1 29135337 29170827 + 28846408 28881898 + 11181995;12477932;15489334 283080 Q8N4M7 ABBA01034371;AL390248;AMYH02022542;AMYH02022543;BC033839;CH471072;LN608327;NM_001278522 ABM82201;ABM85389;EAW86026;NP_001265451;Q8N4M7 bA492M23.1 putative uncharacterized protein C10orf126 protein-coding ENSG00000204365 HGNC:28693 VALIDATED 1348451 C10orf25 chromosome 10 open reading frame 25 FOUND IN extracellular region (inferred) 10 10 10 q11.21 41496320 41499644 - 45493146 45496470 - 44997698 45001022 - 12477932;14702039;15164054;16344560;16385451 220979 Q5T742 ABBA01050024;AK055129;AK311351;AL353801;AMYH02022729;BC062568;BC130369;BC130395;CH471160;DA772947;DR005042;NM_001039380 AAI30370;AAI30396;ADR82803;BAB70858;EAW86630;EAW86631;NP_001034469;Q5T742 Hs.707791 FLJ18393;FLJ30567 OTTHUMP00000019499;hypothetical protein LOC220979;uncharacterized protein C10orf25 protein-coding ENSG00000165511 HGNC:23509 VALIDATED 1317337 C10orf2 chromosome 10 open reading frame 2 This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009] 10 10 10 q24 96485015 96491881 + 102747293 102754159 + 100987536 100994402 + 1580863;1600544;6480464;7240710;8554872;8694093;8699517;8694187 11431692;22229649;22743328 10645945;11756592;12163192;12477932;12557300;12686611;12707443;12872260;12921794;12975372;14702039;14739292;15164054;15167897;15181170;15231748;15509589;15668446;16135556;16169070;16344560;16385451;16712791;17324440;17420318;17614276;17614277;17620490;17722119;17921179;18039713;18063578;18396044;18575922;18708037;18971204;18973250;18989381;19304794;19425506;19428252;19513767;19853444;20181062;20186120;20301317;20301746;20301791;20479361;20562859;20659899;20843780;20877624;20880070;21540127;21689831;22353293;22383523;22580846;22952820;23375728;24018892;24218554;24457600;24657165;7719341;7726163;9027505 56652 E5KSY5;Q96RR1;Q9H6V3 ABBA01063211;ABBA01063212;AF292004;AF292005;AK022959;AK025485;AK297068;AK308098;AL133215;AMYH02023664;BC013349;BC033762;BG473173;BQ643363;BX640829;CB112401;CH471066;DB090322;EU543650;HQ206106;HQ206107;HQ206108;HQ206109;HQ206110;HQ206111;HQ206112;HQ206113;HQ206114;HQ206115;HQ206116;HQ206117;HQ206118;HQ206119;HQ206120;HQ206121;HQ206122;HQ206123;HQ206124;HQ206125;HQ206126;HQ206127;HQ206128;HQ206129;HQ206130;HQ206131;HQ206132;HQ206133;HQ206134;HQ206135;HQ206136;HQ206137;HQ206138;HQ206139;HQ206140;HQ206141;HQ206142;HQ206143;HQ206144;HQ206145;NG_012624;NM_001163812;NM_001163813;NM_001163814;NM_021830;XM_006717921;XM_006717922;XR_246100 AAH13349;AAH33762;AAK69558;AAK69559;ACB21043;ADP92014;ADP92015;ADP92016;ADP92017;ADP92018;ADP92019;ADP92020;ADP92021;ADP92022;ADP92023;ADP92024;ADP92025;ADP92026;ADP92027;ADP92028;ADP92029;ADP92030;ADP92031;ADP92032;ADP92033;ADP92034;ADP92035;ADP92036;ADP92037;ADP92038;ADP92039;ADP92040;ADP92041;ADP92042;ADP92043;ADP92044;ADP92045;ADP92046;ADP92047;ADP92048;ADP92049;ADP92050;ADP92051;ADP92052;ADP92053;BAB15148;BAG59589;CAE45905;EAW49793;EAW49794;NP_001157284;NP_001157285;NP_001157286;NP_068602;Q96RR1;XP_006717984;XP_006717985 Hs.22678 1336971;1658318;1661459;1661698;2155328;7185217 A004R30;D10S1265;D10S192;SHGC-32265;STS-D11794;STS-W80406 ATXN8;C10orf2;FLJ21832;IOSCA;MTDPS7;PEO;PEO1;PEOA3;SCA8;TWINL SANDO;T7 gp4-like protein with intramitochondrial nucleoid localization;T7 helicase-related protein with intramitochondrial nucleoid localization;T7-like mitochondrial DNA helicase;ataxin 8;progressive external ophthalmoplegia 1 ;twinkle protein, mitochondrial APPROVED protein-coding ENSG00000107815 HGNC:1160 05830 271245;606075;609286 REVIEWED 1350474 C10orf43 chromosome 10 open reading frame 43 414155 AL603965 FLJ32754;bA145E20.5 protein-coding HGNC:21291 7365766 C10orf32-ASMT C10orf32-ASMT readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring C10orf32 (chromosome 10 open reading frame 32) and AS3MT (arsenic, +3 oxidation state, methyltransferase) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 10 10 q 104613967 104661656 + 102854210 102901899 + 12477932;20967262;23453885;23974872 100528007 ABBA01063131;ABBA01063132;AL358790;AMYH02023712;AMYH02023713;BC040069;NR_037644 Hs.720370 1670076;1774675 RH44877;STS-N70305 C10orf32-AS3MT ncrna HGNC:49183 VALIDATED 1348811 C10orf55 chromosome 10 open reading frame 55 ASSOCIATED WITH Alzheimer Disease (inferred) 10 10 10 q22.2 68953043 68965862 - 75669727 75682535 - 73909969 73922777 - 12477932;14702039;15164054;15489334;19913121;20628086;21145461;23128233 414236 Q5SWW7 ABBA01020301;ABBA01020302;AI912900;AK092517;AL596247;AMYH02023341;BC049374;CH471083;LN608347;NM_001001791 AAH49374;BAC03908;EAW54546;NP_001001791;Q5SWW7 Hs.585453 1677941;1741587;1793546;5108156;5491394 GDB:181547;PLAU;PMC229370P1;RH92165;SHGC-31374 bA417O11.3 OTTHUMP00000019858;hypothetical protein LOC414236;uncharacterized protein C10orf55 protein-coding ENSG00000222047 HGNC:31008 16580 VALIDATED 1345709 C10orf53 chromosome 10 open reading frame 53 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 10 10 10 q11.23 44473742 44502988 + 50887684 50916956 + 49679638 49708910 + 737633;8554872 12477932 14702039;15489334;16344560;20379614 282966 Q8N6V4 ABBA01041070;AC069546;AC073366;AK091773;AMYH02022985;AMYH02022986;AW182169;BC028127;BX102324;CH471187;DB043416;NM_001042427;NM_182554 AAH28127;EAW93083;EAW93084;EAW93085;NP_001035892;NP_872360;Q8N6V4 Hs.131287 FLJ60598 OTTHUMP00000019586;OTTHUMP00000019587;UPF0728 protein C10orf53;hypothetical protein LOC282966 protein-coding HGNC:27421 12579 VALIDATED 1348188 C10orf64 chromosome 10 open reading frame 64 FOUND IN integral component of membrane (inferred) q11.22 737633 12477932 14702039;15489334;18519826 159491 AC035139;AC068898;AK093607;AK127650;BC034937;XM_001124973;XM_001124974;XM_001719015 AAH34937;BAC04204;BAC87073;Q6ZS81;Q8N222;XP_001124973;XP_001124974;XP_001719067 Hs.287379 FLJ36288;FLJ45748;MGC40604 protein-coding HGNC:27253 12555 1323417 C10orf32 chromosome 10 open reading frame 32 INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; copper(2+) sulfate 10 10 10 q24.32 98354550 98365297 + 104613967 104624718 + 102854210 102864961 + 6480464 12477932;14702039;15164054;15489334;16344560;19915575;21139048;23535732;23974872;24250222;7566098 119032 Q96B45 AA299084;ABBA01063132;AI147530;AK098071;AK311742;AL358790;AL832477;AMYH02023712;AW058660;BC015994;BP419064;CS300779;DA006534;NM_001136200;NM_144591 AAH15994;BAG34685;BAG53576;CAI46115;CAK32443;NP_001129672;NP_653192;Q96B45 Hs.34492 1690906;2148367;2177243;5015619;5015961;5022200 D10S1565;D11S3114;D15S1477;L18426;RH93016;SHGC-36540 DKFZp686B2219;FLJ40752;MGC27171;RP11-753C18.6 OTTHUMP00000020385;OTTHUMP00000020386;OTTHUMP00000211190;UPF0693 protein C10orf32;hypothetical protein LOC119032 protein-coding ENSG00000166275 HGNC:23516 12571 VALIDATED 1313704 C10orf35 chromosome 10 open reading frame 35 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; hydralazine 10 10 10 q22.1 64666901 64670261 + 71390003 71393355 + 69630247 69633599 + 737633;6480464;8554872 12477932 11591653;15164054;15489334;16344560;16385451;17207965;20379614;21139048 219738 Q5VVH9;Q96D05 ABBA01019610;AL450311;AMYH02023273;BC013587;BF510821;CH471083;CK903062;DB339258;DB465414;NM_145306;XM_005269606;XM_005269608 AAH13587;ADQ33141;EAW54330;EAW54332;NP_660349;Q96D05;XP_005269663;XP_005269665 Hs.522992 1644489 WI-12709 OTTHUMP00000019727;hypothetical protein LOC219738;uncharacterized protein C10orf35 protein-coding ENSG00000171224 HGNC:23519 12573 VALIDATED 1351899 C10orf62 chromosome 10 open reading frame 62 10 10 10 q24.2 93086753 93087994 + 99349450 99350691 + 97589693 97590934 + 11076863;12477932;15164054;15489334;15489336;16189514;16381901;19060904;19447967 414157 Q5T681 ABBA01021800;AL355315;AMYH02023611;BC037252;BC043281;BI826342;CH471066;NG_027922;NM_001009997 AAH37252;CAL37434;CAL37673;CAL38043;CAL38061;CAL38381;CAL38664;CAL38665;CAL38667;EAW49915;NP_001009997;Q5T681 Hs.662302 1679025 RH92617 bA548K23.1 OTTHUMP00000020214;hypothetical protein LOC414157;uncharacterized protein C10orf62 protein-coding ENSG00000203942 HGNC:23294 16581 VALIDATED 7206953 C10orf71-AS1 C10orf71 antisense RNA 1 10 10 q11.23 50504495 50506938 - 49296283 49298893 - 16344560 100506769 ABBA01041072;AC027674;AMYH02022985;DA762755;DA764276;NR_108038 Hs.562293 1675049;2144831 RH41964;SHGC-58001 ncrna HGNC:45007 VALIDATED 1605963 C10orf54 chromosome 10 open reading frame 54 INVOLVED IN BMP signaling pathway (inferred); negative regulation of CD4-positive, alpha-beta T cell proliferation (inferred); negative regulation of T cell cytokine production (inferred); FOUND IN external side of plasma membrane (inferred); integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; paracetamol 10 10 10 q22.1 66789752 66815911 - 73507313 73533337 - 71747556 71773580 - 6480464 12477932;12975309;14702039;15164054;15231748;15340161;15489334;15498874;16189514;17207965;20666777;21906983;21963094;22424883;22488247;23784006 64115 Q9H7M9;R4GNB4 ABBA01020373;ABBA01020374;AF193048;AF289594;AK024449;AL731541;AMYH02023302;AY265805;AY358379;BC020568;BC111048;BC127257;CH471083;EF506490;NG_008835;NM_022153 AAG22476;AAH20568;AAI11049;AAI27258;AAL55778;AAP03084;AAQ88745;ABP88253;ADQ32336;BAB15739;EAW54435;NP_071436;Q9H7M9 Hs.47382 1794772;2127052;2144039 PMC55343P6;STS-R80211;STS-W72919 B7-H5;B7H5;GI24;PP2135;SISP1;sisp-1 OTTHUMP00000019774;platelet receptor Gi24;stress induced secreted protein 1;stress-induced secreted protein-1 protein-coding ENSG00000107738 HGNC:30085 15160 615608 VALIDATED 1350054 C10orf67 chromosome 10 open reading frame 67 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH arsane; arsenic atom 10 10 10 p12.2 23293123 23322454 - 23605520 23633772 - 23316591 23344843 - 737633;6480464;8554872 12477932 15164054;15489334;18723019 256815 Q5SXQ8;Q8IYJ2 ABBA01034466;ABBA01034467;ABBA01034468;AL592296;AL606469;AMYH02022447;AMYH02022448;AMYH02022449;BC035732;CH471072;NM_153714 AAH35732;EAW86129;EAW86131;EAW86132;NP_714925;Q8IYJ2 Hs.522360 1848750 G09328 MGC46732;RP11-792P23.2 OTTHUMP00000019310;hypothetical protein LOC256815;uncharacterized protein C10orf67 protein-coding ENSG00000179133 HGNC:28716 12585 VALIDATED 1353451 C10orf71 chromosome 10 open reading frame 71 INTERACTS WITH indole-3-methanol (ortholog) 10 10 10 q11.23 44093353 44121712 + 50505118 50535537 + 49297081 49327492 + 6480464 12477932;14702039;15164054;23362303 118461 Q711Q0;Q9BQV1 ABBA01041072;AC027674;AJ237663;AJ311357;AJ311358;AK056949;AK127811;AL833265;AMYH02022985;BC126413;NM_001135196;XM_005269476;XM_005269477;XM_005269478;XM_006717602;XM_006717603 AAI26414;ADR83248;BAB71321;BAG54576;CAC33852;CAC85340;CAC85341;NP_001128668;Q711Q0;XP_005269533;XP_005269534;XP_005269535;XP_006717665;XP_006717666 Hs.585480 1736008 D10S1293E FLJ45913 OTTHUMP00000019577;hypothetical protein LOC118461;uncharacterized protein C10orf71 protein-coding ENSG00000177354 HGNC:26973 10699 VALIDATED 1313900 C10orf76 chromosome 10 open reading frame 76 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsane; arsenic atom; hydrogen peroxide 10 10 10 q24.32 97344794 97556879 - 103605356 103815932 - 101845599 102056175 - 6480464;8554872 10737800;12477932;14702039;16344560;16385451;21139048;21906983;21963094;23870195 79591 B3KUU6;Q5T2E6;Q5T2E7;Q5T2E8 ABBA01063176;ABBA01063177;ABBA01063178;ABBA01063179;ABBA01063180;ABBA01063181;ABBA01063182;ABBA01063183;ABBA01063184;ABBA01063185;ABBA01063186;AC010789;AK023176;AK097972;AK308479;AL391827;AL592069;AMYH02023684;AMYH02023685;AMYH02023686;AW936405;BC032118;BC054882;BC110511;CH471066;DA020448;DA311439;DR002231;DT932690;NM_024541;XM_006717969;XR_246104 AAH54882;BAB14447;BAG53558;EAW49727;EAW49728;EAW49729;NP_078817;Q5T2E6;XP_006718032 Hs.16004 1666086;1721349;1760821;1846682;1854804;2145754;2152586;2156302;2160774;2176617;2182834;2182836;5037552 A006D27;Bda26a02;D10S2382;D8S2279;G20725;G59674;RH45203;RH46560;SHGC-144456;SHGC-30899;STS-N73831;WI-16761;WI-20224 FLJ13114;MGC125927;RP11-190J1.9 OTTHUMP00000020353;UPF0668 protein C10orf76;hypothetical protein LOC79591 protein-coding ENSG00000120029 HGNC:25788 12588 VALIDATED 1352905 C10orf82 chromosome 10 open reading frame 82 INTERACTS WITH copper(2+) sulfate; valproic acid 10 10 10 q25.3 112152637 112158902 - 118423207 118429765 - 116662211 116670254 - 737633;6480464 12477932 14702039;15489334;16189514;17207965;18976975 143379 K7EKP3;Q8WW14 ABBA01062954;AC016825;AK097587;AMYH02023874;BC021737;BX537582;CH471066;HC006798;NM_144661;XM_005269556;XM_005269557;XM_006717639;XM_006717640 AAH21737;ADQ32801;BAG53491;CBH19205;EAW49444;EAW49445;EAW49446;NP_653262;Q8WW14;XP_005269613;XP_005269614;XP_006717702;XP_006717703 Hs.121347 1681819;1848617;2126524;2173809;5015619;5024039;5037552;5092776 A006D08;D11S3114;D16S325;D8S2279;G32323;RH66653;RH94161;STS-AA026951 FLJ40268;MGC33547 OTTHUMP00000020565;hypothetical protein LOC143379;uncharacterized protein C10orf82 protein-coding ENSG00000165863 HGNC:28500 12592 PREDICTED 1354177 C10orf91 chromosome 10 open reading frame 91 INTERACTS WITH 17beta-estradiol 10 10 10 q26.3 127930059 127933170 + 134258714 134261825 + 132445210 132448321 + 737633;6480464 12477932 15164054;15489334;17207965;24024966 170393 Q5T1B1 ABBA01006184;AL451069;AMYH02024074;BC030794;BE909428;CH471287;LN608363;NM_173541 AAH30794;ADQ32800;EAW49118;EAW49119;NP_775812;Q5T1B1 Hs.375059 RP11-432J24.4;bA432J24.4 OTTHUMP00000020771;hypothetical protein LOC170393;uncharacterized protein C10orf91 protein-coding HGNC:27275 12557 VALIDATED 1313898 C10orf90 chromosome 10 open reading frame 90 ENCODES a protein that exhibits histone deacetylase binding (inferred); INVOLVED IN mitotic G2 DNA damage checkpoint (inferred); negative regulation of cell growth (inferred); protein stabilization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN actin cytoskeleton; centrosome; cytoplasm; INTERACTS WITH pirinixic acid (ortholog) 10 10 10 q26.2 121887866 121984246 - 128113566 128213444 - 126424997 126524875 - 6480464;8554872 12477932;14702039;15164054;15489334;16196087;20154723;20843368;20844083;22040499;23319000;24240685 118611 H7C3F8;Q5T025;Q96M02;S4R3N7;S4R3Q7 ABBA01034179;AF435960;AK057500;AK093093;AK297577;AK308357;AK309217;AL583860;AL589787;AL705062;AMYH02024004;AMYH02024005;BC021140;BC034828;BC140898;BC146869;CH471066;NM_001004298;XM_005269491;XM_005269492;XM_006717615 AAH21140;AAI40899;AAI46870;AAI56059;AAI56942;AAM20911;BAB71512;BAG59968;EAW49200;EAW49201;EAW49202;NP_001004298;Q96M02;XP_005269548;XP_005269549;XP_006717678 Hs.587663 1341134;1696118;1751053;7183993 D10S214;SHGC-104964;SHGC-78951 FATS;FLJ32938;RP11-422P15.2;bA422P15.2 OTTHUMP00000020729;OTTHUMP00000020731;OTTHUMP00000020732;centrosomal protein C10orf90;fragile-site associated tumor suppressor;fragile-site associated tumor suppressor homolog;hypothetical protein LOC118611 protein-coding ENSG00000154493 HGNC:26563 16587 VALIDATED 1312790 C10orf88 chromosome 10 open reading frame 88 ENCODES a protein that exhibits identical protein binding (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; ethyl methanesulfonate 10 10 10 q26.13 118396884 118420383 - 124690419 124713919 - 122930903 122954403 - 737633;6480464 12477932 14702039;15489334;16169070;17207965;18624398;20418485;21832049;21906983;24250222 80007 Q9H8K7 ABBA01062839;AC073585;AK023552;AMYH02023957;BC021705;BC032645;BI821345;CB044034;CH471066;NM_024942 AAH32645;ADQ31756;BAB14609;EAW49297;EAW49298;NP_079218;Q9H8K7 Hs.501286 1698194 RH102633 FLJ13490 OTTHUMP00000020667;hypothetical protein LOC80007;uncharacterized protein C10orf88 protein-coding ENSG00000119965 HGNC:25822 18531 VALIDATED 1349493 C10orf95 chromosome 10 open reading frame 95 INTERACTS WITH copper(2+) sulfate; diazinon; paracetamol 10 10 10 q24.32 97950507 97952213 - 104209594 104211300 - 102449837 102451543 - 6480464 12477932;14702039;15164054;15489334;23535732 79946 Q9H7T3 ABBA01063154;ABBA01063155;AK024342;AL121928;AMYH02023697;BC126459;CH471066;NM_024886 AAI26460;BAB14892;EAW49692;NP_079162;Q9H7T3 Hs.225084 2152993;5493359 RH48442;UniSTS:485839 FLJ14280 OTTHUMP00000020369;hypothetical protein LOC79946;uncharacterized protein C10orf95 protein-coding ENSG00000120055 HGNC:25880 10701 PREDICTED 1347638 C11orf16 chromosome 11 open reading frame 16 INTERACTS WITH (+)-catechin; amiodarone 11 11 11 p15.3 9061388 9074315 - 8941623 8954553 - 8920076 8933006 - 6480464 11528127;12477932;15489334;16189514;16344560;23455924;8125298;8889548 56673 E9PI19;E9PNY9;Q9NQ32 ABBA01061203;AC026894;AJ400877;AK074455;AK223377;AMYH02024299;BC027865;CA310676;CH471064;DA399415;NM_020643 AAH27865;BAD97097;CAB92289;EAW68611;EAW68612;EAW68613;NP_065694;Q9NQ32 Hs.277349 OTTHUMP00000230641;OTTHUMP00000230642;hypothetical protein LOC56673;uncharacterized protein C11orf16 protein-coding ENSG00000176029 HGNC:1169 12604 VALIDATED 1347494 C10orf93 chromosome 10 open reading frame 93 10 10 q26.3 128763297 128776265 + 134742689 134756089 - 12477932;14702039;15164054;15489334 255352 AA813184;AK098820;AL691429;BC044661;BC146900;BC146908;BX376477;CH471211;DR001134;NM_173572 AAH44661;AAI46901;AAI46909;BAC05424;CAI17263;CAI17264;EAW61310;NP_775843 Hs.375837 1782112 SHGC-155044 RP13-137A17.3;bB137A17.3 OTTHUMP00000020784;hypothetical protein LOC255352;uncharacterized protein LOC255352 protein-coding ENSG00000171811 HGNC:26382 12597 VALIDATED 1345294 C11orf1 chromosome 11 open reading frame 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH all-trans-retinoic acid; orphenadrine (ortholog) 11 11 11 q23.1 108903165 108908015 + 111749948 111754798 + 111879224 111884074 + 6480464;8554872 10873569;12477932;14702039;15489334;16169070;17207965;18029348 64776 E9PLN1;E9PMC1;E9PS33;E9PS93;Q9H5F2 ABBA01039811;AJ250229;AK027152;AMYH02025575;AP001781;BC020628;BC036892;CH471065;CR457378;GN341810;NG_029081;NM_022761 AAH20628;ADQ32215;BAB15674;CAB96538;CAG33659;CAY39324;EAW67160;NP_073598;Q9H5F2 Hs.17546 1774060;2116699;2186627;5014057;5015861;5015961;5016478;5020740;5024756;7185938 A008P41;D10S16;D15S1477;D1S3699;GDB:434012;L17809;RH18234;RH80030;SGC33774 FLJ23499 OTTHUMP00000234273;OTTHUMP00000234274;OTTHUMP00000234275;OTTHUMP00000234276;OTTHUMP00000234277;UPF0686 protein C11orf1;hypothetical protein LOC64776 protein-coding HGNC:1163 12601 VALIDATED 1347380 C11orf26 chromosome 11 open reading frame 26 79262 HGNC:14532 1343186 C11orf29 chromosome 11 open reading frame 29 83960 HGNC:15666 1323665 C11orf24 chromosome 11 open reading frame 24 FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; atrazine 11 11 11 q13 65362696 65374268 - 68028803 68039469 - 68261335 68272001 - 6480464 11401438;12477932;12975309;15489334;15498874;24312644 53838 E9PI63;E9PRU5;Q96F05 ABBA01024008;AF264781;AF370372;AMYH02025009;AP002813;AP002992;AY358754;BC011765;BG701401;BI862360;BX384793;CH471076;DB471655;NM_001300913;NM_022338;XM_005274053;XM_005274054 AAG36936;AAH11765;AAQ15208;AAQ89114;ADZ15751;EAW74702;EAW74703;EAW74704;NP_001287842;NP_071733;Q96F05;XP_005274110;XP_005274111 Hs.303025 1709710;2135270;2163601;2185635 RH17410;RH45838;SGC38070;SHGC-86344 DM4E3 OTTHUMP00000236022;OTTHUMP00000236024;hypothetical protein LOC53838;uncharacterized protein C11orf24 protein-coding ENSG00000171067 HGNC:1174 10704 610880 VALIDATED 1342639 C10orf99 chromosome 10 open reading frame 99 FOUND IN extracellular region (inferred); INTERACTS WITH ethyl methanesulfonate; fonofos; parathion 10 10 10 q23.1 79928477 79940052 + 85933511 85945050 + 84173755 84185294 + 6480464 12477932;12975309 387695 Q6UWK7 ABBA01003758;ABBA01003759;ABBA01003760;ABBA01003761;AC022389;AI831407;AMYH02023450;AW351839;AY358751;BC024215;CH471142;NM_207373;XM_005269811 AAQ89111;EAW80365;EAW80366;NP_997256;Q6UWK7;XP_005269868 Hs.298713;Hs.499145 1686881;2042242;5023453 REN92160;RH25555;SHGC-32086 FLJ21763;UNQ1833 OTTHUMP00000019995;RLLV1833;putative uncharacterized protein C10orf99 protein-coding ENSG00000188373 HGNC:31428 12599 VALIDATED 1343136 C11orf3 chromosome 11 open reading frame 3 q13 14702039;9286704;9615229 739 AK023941;AK093791 Hs.277517 ANG3 protein-coding HGNC:1175 1354141 C11orf21 chromosome 11 open reading frame 21 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred) 11 11 11 p15.5 2352383 2358017 - 2317507 2323143 - 2296277 2301913 - 8554872 11054561;12477932;23251661;24292274 29125 E9PAM5;Q9P2W6 AB029488;ABBA01032096;AC129929;AK290921;AK310172;AMYH02024188;AMYH02024189;BC028070;BI770361;NM_001142946;NR_024621 BAA89482;BAF83610;NP_001136418;Q9P2W6 Hs.559181 1801192;1805476;1806532;1810932;1813240;1828250;1831560;2092576;2092578;2092580;2092582;2092584;2092586;2092588;2092590;2092592;2092594;2092596;2092598;2092600;2092602;2092604;2092606;2092608;2092610;2092612;2092614;2092616;2092618;2092620;2092622;2092624;2092626;2092628;2092630;2092632;2092634;2092636;2092638;2216914;2216916;2216918;5119835 ECD01468;ECD03686;ECD04223;ECD06464;ECD07640;ECD15250;ECD16917;GDB:182522;REN117571;REN117572;REN117573;REN117574;REN117575;REN117576;REN117577;REN117578;REN117579;REN117580;REN117581;REN117582;REN117583;REN117584;REN117585;REN117586;REN117587;REN117588;REN117589;REN117590;REN117591;REN117592;REN117593;REN117594;REN117595;REN117596;REN117597;REN117598;REN117599;REN117600;REN117601;REN117602;stSG548805;stSG548806;stSG548808 OTTHUMP00000011323;OTTHUMP00000196041;hypothetical protein LOC29125;uncharacterized protein C11orf21 protein-coding HGNC:13231 611033 PREDICTED 1350055 C11orf32 chromosome 11 open reading frame 32 12477932;12970790;8619474 442871 BC040643;U90916 Hs.368592 protein-coding HGNC:21712 1605575 C11orf40 chromosome 11 open reading frame 40 INTERACTS WITH cadmium atom 11 11 11 p15.5 4716853 4723256 - 4592653 4599050 - 4571423 4577820 - 6480464 20237496 143501 Q8WZ69 ABBA01028640;AC090719;AF439154;AMYH02024244;CH471064;NM_144663 AAI52950;AAL31642;EAW68838;NP_653264;Q8WZ69 Hs.350556 NOV1 OTTHUMP00000229412;putative uncharacterized protein C11orf40;ro/SSA1-related protein protein-coding ENSG00000171987 HGNC:23986 17643 PREDICTED 1345109 C11orf30 chromosome 11 open reading frame 30 ENCODES a protein that exhibits protein homodimerization activity (inferred); INVOLVED IN chromatin modification (inferred); DNA repair (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; diazinon 11 11 11 q13.5 73463866 73570375 + 76155967 76263943 + 76444923 76552896 + 6480464;8554872 12477932;14651845;14702039;15302935;15489334;15947784;15978617;16029503;16145051;16236351;16615912;18314909;18393977;18587394;18787380;18950845;19124506;19131338;19349984;19471022;19636701;19760754;20349280;20379614;20453000;20503266;20508642;21064104;21072187;21102463;21327470;21409565;21693764;21906983;21987572;22036096;22070912;22315412;22505724;23042114;23752268;23817569;23817571;23886662;24250222;24582497 56946 E9PMC9;E9PPE6;H0YCS3;H0YDI4;H0YEP9;H0YET8;Q7Z589 ABBA01017449;AF226047;AI275430;AJ430203;AK023651;AK125114;AK126030;AK304043;AK304106;AK309621;AMYH02025128;AMYH02025129;AP002360;AP003165;AY070433;BC021688;BC029375;BC033404;BC117265;BC143370;BC143374;BC143376;BG722092;BX647398;CH471076;NM_001300942;NM_001300943;NM_001300944;NM_020193;XM_005274106;XM_005274108;XM_005274109;XM_005274112;XM_006718637;XM_006718638;XM_006718639 AAF86947;AAH29375;AAH33404;AAI17266;AAI43371;AAI43375;AAI43377;AAL65260;BAB14627;BAG54147;BAG54280;BAG64954;BAG65009;CAD22881;EAW74996;EAW74997;EAW74998;EAW74999;EAW75000;NP_001287871;NP_001287872;NP_001287873;NP_064578;Q7Z589;XP_005274163;XP_005274165;XP_005274166;XP_005274169;XP_006718700;XP_006718701;XP_006718702 Hs.352588 1654874;1670406;1677410;1680705;1697880;1854586;2115790;2120438;2125343;2176511;5022578;5024761;5109281 B291YH9;D11S4372;D11S493;D1S1423;D1S1425;RH102468;RH12113;RH36108;RH36905;RH91459;RH93961;SHGC-31396;SHGC-57297 EMSY;FLJ90741;GL002 OTTHUMP00000229238;OTTHUMP00000229239;OTTHUMP00000229240;OTTHUMP00000229241;OTTHUMP00000229242;OTTHUMP00000229289 protein-coding ENSG00000158636 HGNC:18071 10544 608574 VALIDATED 1602976 C11orf42 chromosome 11 open reading frame 42 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine 11 11 11 p15.4 6345882 6351444 + 6226798 6232365 + 6205568 6211135 + 8554872 12477932;15489334 160298 Q8N5U0 AA781757;ABBA01028663;AC022762;AMYH02024265;BC031612;CH471064;NM_173525 AAH31612;EAW68741;NP_775796;Q8N5U0 Hs.278221 MGC34805 OTTHUMP00000164534;hypothetical protein LOC160298;uncharacterized protein C11orf42 protein-coding ENSG00000180878 HGNC:28541 14590 VALIDATED 1606680 C11orf45 chromosome 11 open reading frame 45 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; genistein 11 11 11 q24.3 125937769 125943905 - 128769460 128776126 - 128899565 128906231 - 6480464;8554872 12477932;15489334;16344560;21832049 219833 Q8TAV5 ABBA01023015;AK125634;AK314137;AMYH02025767;AP000920;BC025756;BX956612;CH471065;DB219954;NG_023406;NM_001256088;NM_145013;NR_045767 AAH25756;ABM82570;ABM85759;BAG36827;BAG54227;EAW67728;EAW67729;EAW67730;NP_001243017;NP_659450;Q8TAV5 Hs.689860 FLJ43646;MGC35558 OTTHUMP00000230990;OTTHUMP00000230991;putative uncharacterized protein C11orf45 protein-coding ENSG00000174370 HGNC:28584 11344 VALIDATED 1601924 C11orf44 chromosome 11 open reading frame 44 FOUND IN extracellular region (inferred) 11 11 11 q24.3 127711742 127756135 + 130542851 130587247 + 130672956 130717352 + 14702039;23251661 283171 Q8N8P7 ABBA01023046;AK096377;AMYH02025793;AP003486;CH471065;LN608424;NM_001271983 BAC04771;EAW67791;NP_001258912;Q8N8P7 Hs.376151 1737707 D11S3304 FLJ39058 uncharacterized protein C11orf44 protein-coding HGNC:26805 08250 VALIDATED 1354417 C11orf31 chromosome 11 open reading frame 31 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. The exact function of this gene is not known, however, selenoproteins are thought to be responsible for most biomedical effects of dietary selenium. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54865438 54867599 + 57508722 57510883 + 57741250 57743411 + 737633;6480464 12477932 12775843;15489334;17337453;17389926;17526492;19766117;20656065;21048031;23220172;24816145 280636 H0YE28;Q8IZQ5 ABBA01021477;AF085883;AF536829;AJ276249;AJ276250;AMYH02024846;AP001931;BC021122;BC064570;BX493234;CH471076;NM_170746 AAH21122;AAN61472;EAW73781;EAW73782;NP_734467;Q8IZQ5 Hs.655373 1725705;1739601;1777157;2123346;2164896 D11S4051E;D11S4605;G62115;RH18244;SGC30725 C17orf10;SELH OTTHUMP00000235475;OTTHUMP00000235568;OTTHUMP00000235569;selenoprotein H APPROVED protein-coding ENSG00000211450 HGNC:18251 07447 607914 REVIEWED 1603865 C11orf47 chromosome 11 open reading frame 47 p15.4 12477932;14702039 283294 AC084337;AK093028;AK096944;BC111765;BX648742;NM_173589 AAI11766;BAC04023;NP_775860;Q2NKK8 Hs.377188 FLJ35709;MGC133191 protein-coding HGNC:26651 08184 1604761 C11orf52 chromosome 11 open reading frame 52 FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 11 11 11 q23.1 108942809 108950804 + 111789601 111797595 + 111918877 111926871 + 6480464 12477932;14702039;15489334;19056867;21832049;23602568 91894 E9PPX5;Q96A22 ABBA01039810;AK057948;AMYH02025576;AP000907;BC008501;BQ102454;CH471065;NG_009824;NM_080659 AAH08501;BAB71620;EAW67170;NP_542390;Q96A22 Hs.97013 FLJ25219;MGC131888;MGC14839 OTTHUMP00000234296;OTTHUMP00000234297;hypothetical protein LOC91894;uncharacterized protein C11orf52 protein-coding ENSG00000149300 HGNC:30531 14444 VALIDATED 1603055 C11orf54 chromosome 11 open reading frame 54 ENCODES a protein that exhibits hydrolase activity, acting on ester bonds; zinc ion binding; INVOLVED IN metabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; nucleus; INTERACTS WITH aflatoxin B1; benzo[a]pyrene diol epoxide I; calcitriol 11 11 11 q21 90766246 90787706 + 93474769 93496250 + 93741594 93763102 + 6480464;8554872 11230166;11256614;12477932;15489334;15498874;16189514;16522806;18781797;19056867;19060904;21139048;21832049;21906983;22505724;24654937;8125298 28970 A8K718;E9PIP1;E9PJU8;E9PLB3;E9PLC5;E9PPB5;E9PQS1;E9PR95;E9PSC3;Q9H0W9 AA864999;ABBA01040043;AF092133;AK129932;AK225977;AK291833;AK292215;AL136605;AL708049;AMYH02025366;AP001273;AY203960;BC007110;BC012298;BC046477;BI597310;BM551310;CH471065;CR533538;NM_001286067;NM_001286068;NM_001286069;NM_001286070;NM_001286071;NM_014039;XM_005273935;XM_006718824 AAD40375;AAH07110;AAH12298;AAP34483;ACE86551;ACE87233;BAF84522;BAF84904;CAB66540;CAG38569;EAW66915;EAW66916;EAW66917;EAW66918;EAW66919;NP_001272996;NP_001272997;NP_001272998;NP_001272999;NP_001273000;NP_054758;Q9H0W9;XP_005273992;XP_006718887 Hs.8360 1657058;1675389;1687393;2110683;5020740 L17809;PTD012_9567;RH46581;RH98894;STS-T40968 LP4947;PTD012;PTOD012 OTTHUMP00000235970;OTTHUMP00000235971;OTTHUMP00000235973;OTTHUMP00000235974;ester hydrolase C11orf54 protein-coding ENSG00000182919 HGNC:30204 17923 615810 VALIDATED 1604913 C11orf55 chromosome 11 open reading frame 55 p13 14702039 399879 Q6ZST8 AC087277;AK127155;NM_207428 BAC86858;NP_997311;Q6ZST8 Hs.99443 2109181 COMMD9_9578 FLJ45212 protein-coding HGNC:23262 13500 1605809 C11orf53 chromosome 11 open reading frame 53 11 11 11 q23.1 108279889 108310160 + 111126707 111156973 + 111255982 111286248 + 12477932;15489334;17207965;18753146;21832049;23455924 341032 Q8IXP5 ABBA01039824;AMYH02025570;AP002448;BC039669;CH471065;NM_198498 AAH39669;ADQ33056;EAW67135;NP_940900;Q8IXP5 Hs.298685 MGC50104 OTTHUMP00000233927;hypothetical protein LOC341032;uncharacterized protein C11orf53 protein-coding ENSG00000150750 HGNC:30527 14663 PREDICTED 1604290 C11orf49 chromosome 11 open reading frame 49 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; INTERACTS WITH (+)-catechin; aflatoxin B1; benzo[a]pyrene 11 11 11 p11.2 47103848 47325170 + 46958240 47185932 + 46936689 47164381 + 6480464;8554872 11076863;11230166;12477932;14702039;15489334;15489336;16169070;16189514;16344560;16381901;16713569;17207965;18029348;20379614;21502573;21900206;21906983;21963094;21988832;24399259;8889548 79096 B4DUV7;E9PI12;E9PI28;E9PQA0;E9PQS2;H0YDE7;H0YDJ0;Q9H6J7 ABBA01060721;ABBA01060722;ABBA01060723;ABBA01060724;ABBA01060725;AC021573;AC090470;AC090589;AC103792;AK025863;AK293609;AK300813;AK315639;AK316318;AL136575;AMYH02024715;AMYH02024716;AMYH02024717;AMYH02024718;AMYH02024719;AMYH02024720;AMYH02024721;AMYH02024722;AMYH02024723;BC001860;BC009455;BC013988;BC052291;BI763384;BQ428072;BU728094;CH471064;CK724853;CR457351;DA374145;DA487960;DB027437;NM_001003676;NM_001003677;NM_001003678;NM_001278222;NM_024113;NR_103471;NR_103472;XM_006718315 AAH01860;AAH09455;AAH13988;AAH52291;ADQ31717;BAB15262;BAG57072;BAG62469;BAH14689;CAB66510;CAG33632;CAL38461;CAL38682;EAW67969;EAW67970;EAW67971;EAW67972;EAW67973;NP_001003676;NP_001003677;NP_001003678;NP_001265151;NP_077018;Q9H6J7;XP_006718378 Hs.368296 1650999;1679706;1685421;1701120;1768054;1768056;1854697;2134341;2140282;2146850;2161404;2163167;5114561 A002C04;AFM310VE1;D11S1085;D11S2039;D11S3969;D11S4059;D11S4709;G19914;RH104188;RH10546;RH66756;T03584;WI-14595 FLJ22210;MGC4707 OTTHUMP00000234069;OTTHUMP00000234070;OTTHUMP00000234071;OTTHUMP00000234073;UPF0705 protein C11orf49;hypothetical protein LOC79096 protein-coding ENSG00000149179 HGNC:28720 08332 VALIDATED 1353268 C11orf6 chromosome 11 open reading frame 6 9286704 742 HGNC:1178 1605695 C11orf58 chromosome 11 open reading frame 58 11 11 11 p15.1 16887272 16907025 + 16760148 16779901 + 16738601 16758354 + 12477932;14702039;15342556;15489334;15592455;16094384;16169070;17081983;17207965;19615732;21890473;21900206;21906983;21963094;21987572;22053931;22505724;22863883;22939629;23000965;24816145;9263035 10944 E9PM92;E9PQA1;E9PRZ9;O00193 ABBA01061082;ABBA01061083;AC026639;AK057169;AK093998;AK094549;AK315382;AMYH02024373;AMYH02024374;BC007103;BC016352;BC020937;BC103747;BP210918;BP226882;BU661194;BX648095;CH471064;CR456882;NM_014267;U51678 AAB99729;AAH07103;AAH16352;AAH20937;AAI03748;ADQ32805;BAG37775;CAG33163;EAW68455;EAW68456;EAW68457;NP_055082;O00193 Hs.645792 1679555;1683851;1684736;1685852;1688839;1699582;1725837;2173964;5015861;5015961;5022322;5022450;5037552;5094052;5117897;7185938 D10S16;D10S275;D11S2560;D15S1477;D8S2279;G34942;G62005;GDB:631813;RH103392;RH65290;RH66943;RH69440;RH70667;RH93893;STS-N24765 DKFZp686N0232;IMAGE145052;MGC117265;SMAP OTTHUMP00000231501;OTTHUMP00000231502;OTTHUMP00000231503;OTTHUMP00000231504;small acidic protein protein-coding HGNC:16990 18069 VALIDATED 1605379 C11orf57 chromosome 11 open reading frame 57 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH formaldehyde; hydrogen peroxide; theophylline 11 11 11 q23.1 109098159 109109066 + 111944968 111955874 + 112074244 112085150 + 6480464;8554872 12477932;14702039;15489334;17207965;17213182;19322201;21145461;21988832;23455922;8889548 55216 E9PKA8;E9PPH9;E9PQL5;E9PSC8;Q6ZUT1 AB096251;ABBA01039805;AK001588;AK094203;AK125340;AMYH02025583;AP000907;AP002007;BC005403;BC030546;BC048133;BC072455;BG115155;BM670479;BX538107;CD244552;CD706604;CH471065;DA813095;DT220380;EL736728;NM_001082969;NM_001082970;NM_001301017;NM_001301019;NM_001301021;NM_018195;NR_103469;XM_006718873;XM_006718874;XM_006718875;XM_006718876;XM_006718877 AAH05403;AAH30546;AAH48133;AAH72455;BAA91774;BAC86137;CAD98020;EAW67178;EAW67179;NP_001076438;NP_001076439;NP_001287946;NP_001287948;NP_001287950;NP_060665;Q6ZUT1;XP_006718936;XP_006718937;XP_006718938;XP_006718939;XP_006718940 Hs.195060 1669935;1676286;1677995;1683709;1688610;1715823;2136430;2144740;2148222;2153457;2158077;5016478;5022578;5022651;5037552 D11S2329E;D11S2921;D1S1423;D8S2279;GDB:434012;RH119608;RH64925;RH80714;RH91851;RH94303;RH94343;SHGC-53144;STS-N20376;WI-11979;WI-13525 FLJ10726 OTTHUMP00000196623;OTTHUMP00000196624;OTTHUMP00000234713;OTTHUMP00000234714;OTTHUMP00000234718;OTTHUMP00000234719;hypothetical protein LOC55216;uncharacterized protein C11orf57 protein-coding ENSG00000150776 HGNC:25569 07695 VALIDATED 1605626 C11orf63 chromosome 11 open reading frame 63 INVOLVED IN axoneme assembly (inferred); brain development (inferred); cerebrospinal fluid secretion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH lead diacetate (ortholog) 11 11 11 q24.1 119912750 119989824 + 122753236 122830430 + 122882528 122959722 + 6480464;8554872 11329013;12477932;14702039;15489334;19953087;20379614;21832049;23602568;23940030 79864 B3KUM2;Q6NUN7 ABBA01031278;AK027207;AK097534;AK291625;AMYH02025708;AMYH02025709;AP003040;AP004318;BC009820;BC068507;BG182647;BU069407;CD244380;CH471065;NM_024806;NM_199124;XM_005271679;XM_005271680;XM_005271681;XM_006718915;XR_428981 AAH09820;AAH68507;BAB15691;BAF84314;BAG53484;EAW67533;EAW67534;EAW67535;EAW67536;NP_079082;NP_954575;Q6NUN7;XP_005271736;XP_005271737;XP_005271738;XP_006718978 Hs.164705 1847133;5022578;5022635 D11S2750;D1S1423;DXS6735 FLJ23554 OTTHUMP00000231741;OTTHUMP00000231742;hypothetical protein LOC79864;uncharacterized protein C11orf63 protein-coding ENSG00000109944 HGNC:26288 08035 VALIDATED 1603171 C11orf65 chromosome 11 open reading frame 65 ASSOCIATED WITH Ataxia Telangiectasia (inferred); Ataxia-Telangiectasia Variant (inferred); Neoplastic Syndromes, Hereditary (inferred) 11 11 11 q22.3 105408665 105493182 - 108179012 108338258 - 108331550 108467531 - 8554872 12477932;15489334;16189514;16344560;17207965;19692168;21186350;21845381 160140 B4DZU4;E9PQ22;H0YD27;Q8NCR3 ABBA01039865;ABBA01039866;ABBA01039867;ABBA01039868;AK303096;AMYH02025549;AMYH02025550;AMYH02025551;AMYH02025552;AP005718;BC029536;CH471065;DB104722;NM_152587;XM_005271412;XM_005271413;XM_005271414;XM_005271415 AAH29536;ADQ32314;BAG64206;EAW67116;EAW67117;EAW67118;NP_689800;Q8NCR3;XP_005271469;XP_005271470;XP_005271471;XP_005271472 Hs.653180 1341224;1675834;1771108;2111816;2133951;7185380 D11S1778;D11S4498;D11S535;RH68683;SGC35029 MGC33948 OTTHUMP00000233034;OTTHUMP00000233297;hypothetical protein LOC160140;uncharacterized protein C11orf65 protein-coding ENSG00000166323 HGNC:28519 14579 VALIDATED 1604001 C11orf71 chromosome 11 open reading frame 71 INTERACTS WITH cadmium dichloride (ortholog); dibutyl phthalate (ortholog); diethylstilbestrol (ortholog) 11 11 11 q23.2 111415112 111424085 - 114262170 114271272 - 114391448 114400550 - 6480464 12477932;14702039;15489334;17207965;21804549;21832049;21988832;24250222 54494 Q6IPW1 ABBA01039770;AK000017;AMYH02025602;AP002373;BC009041;BC071695;CH471065;CR457222;HY013971;NM_001271562;NM_019021 AAH09041;AAH71695;ADQ31939;BAA90886;CAG33503;EAW67245;NP_001258491;NP_061894;Q6IPW1 Hs.715083 1685928;1771929;2131054;2162879 RH99159;SHGC-36830;STS-H59141;STS-N34855 FLJ20010 OTTHUMP00000238389;hypothetical protein LOC54494;uncharacterized protein C11orf71 protein-coding ENSG00000180425 HGNC:25937 07874 VALIDATED 1602657 C11orf69 chromosome 11 open reading frame 69 p13 12477932;14702039;15489334 120196 Q8TAY4 AK094307;AL049629;BC025668;CH471064;NM_152314 AAH25668;EAW68195;NP_689527;Q8TAY4 Hs.22270 MGC34830 protein-coding HGNC:28545 14593 1601925 C11orf72 chromosome 11 open reading frame 72 q13.2 12477932;14702039;15489334 283135 Q8NBR9 AK075315;AP003385;BC104448;BC104449;CH471076;CQ783922;NM_173578 AAI04449;AAI04450;BAC11541;CAF86926;EAW74651;NP_775849;Q8NBR9 Hs.382074 2135126;2154732 D11S2245E;STS-N93261 FLJ90834;MGC129824;MGC129825 protein-coding HGNC:26915 08302 1605606 C11orf70 chromosome 11 open reading frame 70 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,4-dichloroaniline; arsane; arsenic atom 11 11 11 q22.1 99079748 99116853 + 101918147 101955291 + 102047416 102084560 + 6480464;8554872 12477932;14702039;15489334;21145461 85016 E9PM77;H0YCT8;Q7Z2V0;Q9BRQ4 ABBA01039949;ABBA01039950;ABBA01039951;ABBA01039952;AK094851;AMYH02025477;AP001527;BC006128;BC054869;BG700929;CH471065;NM_001195005;NM_032930;XM_005271713;XM_006718929 AAH06128;AAH54869;EAW67009;EAW67010;NP_001181934;NP_116319;Q9BRQ4;XP_005271770;XP_006718992 Hs.98328 1675648;5022649 D11S2875;RH98419 MGC13040 OTTHUMP00000235690;OTTHUMP00000235691;OTTHUMP00000235692;hypothetical protein LOC85016;uncharacterized protein C11orf70 protein-coding ENSG00000137691 HGNC:28188 14433 VALIDATED 1602858 C11orf68 chromosome 11 open reading frame 68 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH benzo[a]pyrene diol epoxide I; cisplatin; cobalt dichloride 11 11 11 q13.1 63008205 63010455 - 65684281 65686531 - 65916810 65919060 - 6480464 12477932;15489334;16169070;16189514;16511166;17207965;20360068;21139048;21900206;8889548 83638 Q9H3H3 ABBA01024097;AF073483;AMYH02024966;AP006287;BC004414;BC010512;BC013185;BM705907;CH471076;CX866110;NM_001135635;NM_031450 AAG43171;AAH04414;AAH10512;AAH13185;ADQ31656;EAW74470;EAW74471;NP_001129107;NP_113638;Q9H3H3 Hs.433573 1858198;2142411 D11S4689;WI-17663 BLES03;P5326 OTTHUMP00000211566;OTTHUMP00000234042;UPF0696 protein C11orf68;basophilic leukemia expressed protein BLES03;basophilic leukemia-expressed protein Bles03 protein-coding ENSG00000175573 HGNC:28801 12553 VALIDATED 1604822 C11orf73 chromosome 11 open reading frame 73 ENCODES a protein that exhibits Hsp70 protein binding; protein transporter activity; INVOLVED IN cellular response to heat; protein import into nucleus; protein transport; FOUND IN cell junction; cytosol; extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; copper(2+) sulfate 11 11 11 q14.2 83323908 83367617 + 86013253 86056985 + 86302211 86345943 + 6480464 11042152;12477932;14702039;15489334;19734545;21139048;21832049;22541429;8125298;8889549 51501 E9PJB2;E9PPG8;Q53FT3 AA148558;ABBA01017322;ABBA01017323;AF151082;AF161487;AF161527;AK001447;AK125010;AK223198;AK298763;AMYH02025231;AP001148;BC001677;BC006476;BC015991;BC018080;BC021621;BE858273;BP423222;BX332668;CH471076;KF455427;KF455435;NM_016401;NR_024596;NR_024597;NR_024598;XM_006718582;XM_006718583;XM_006718584 AAF29102;AAF29142;AAF36168;AAH01677;AAH06476;AAH15991;AAH18080;AAH21621;ABM83657;ABM86903;BAA91698;BAD96918;BAG60905;EAW75133;EAW75134;EAW75135;EAW75136;EAW75137;NP_057485;Q53FT3;XP_006718645;XP_006718646;XP_006718647 Hs.283322 1797078;2161120 AW465254;RH46883 FLJ43020;HSPC138;HSPC179;L7RN6;OPI10 Hikeshi;OTTHUMP00000235491;OTTHUMP00000235492;lethal, Chr 7, Rinchik 6;uncharacterized protein C11orf73 protein-coding ENSG00000149196 HGNC:26938 13701 614908 VALIDATED 1625825 C11orf81 chromosome 11 open reading frame 81 p15.5 100073348 AK124467;AK124948 BAC85857;BAC86004;Q6ZV59;Q6ZVK4 Hs.595642;Hs.595659 FLJ42958 protein-coding HGNC:33489 1605958 C11orf80 chromosome 11 open reading frame 80 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH cadmium atom; calcitriol; copper(2+) sulfate 11 11 11 q13.2 63839232 63954092 + 66512207 66613997 + 66744736 66843516 + 6480464;8554872 12477932;18160775;21906983;21926972;8125298 79703 B4DXL1;E9PIE7;E9PJS1;E9PKM2;E9PMI8;E9PMU2;E9PNG9;H0YD22;H0YD55;H0YDL3;H0YE21;Q8N6T0 ABBA01024061;ABBA01024062;ABBA01024063;ABBA01024064;AK026184;AK225435;AK302025;AMYH02024980;AMYH02024981;AMYH02024982;AP000485;AP001157;BC028240;BE676873;BI559574;CH471076;KC877430;NM_001302084;NM_024650;NR_048553 AAH28240;ADZ16029;BAB15387;BAG63423;EAW74562;EAW74563;NP_001289013;NP_078926;Q8N6T0 Hs.292088 1668178;1682049;1683259;1742561;1748401;1751473;1756913;1852576;2152544;2153975;2219470 D19Ertd98e;GDB:197884;PC;PC__5832;RH16038;RH46345;RH65295;RH98933;SHGC-105288;SHGC-144078;SHGC-30028 FLJ22531 OTTHUMP00000235640;OTTHUMP00000235643;putative uncharacterized protein C11orf80 protein-coding HGNC:26197 07993 VALIDATED 1603277 C11orf74 chromosome 11 open reading frame 74 This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 11 11 11 p12 36768524 36833247 + 36616043 36680841 + 36594432 36673273 + 6480464;8554872 12107413;12477932;12766061;14702039;16157265;17207965;18433331;19773279;21382349;21478494;21988832;8889548 119710 A8K468;B4DSA3;B4DYW4;E9PJ48;E9PL16;E9PPH4;Q86VG3 ABBA01060845;AC139427;AK095997;AK290833;AK299642;AK302634;AMYH02024611;BC009561;BC051031;BI831382;BM670168;BQ018679;CD101968;CD674194;CD678640;CH471064;DQ121386;HY051439;NG_033154;NM_001276722;NM_001276723;NM_001276724;NM_001276725;NM_001276726;NM_001276727;NM_138787;NR_077243;XM_006718138;XR_428839 AAH09561;AAH51031;AAZ29248;ADQ33126;ADZ15982;BAF83522;BAG61565;BAG63876;EAW68112;EAW68113;EAW68114;EAW68115;EAW68116;NP_001263651;NP_001263652;NP_001263653;NP_001263654;NP_001263655;NP_001263656;NP_620142;Q86VG3;XP_006718201 Hs.159376 1763363;1791318;2158880;2190819 D11S4272;PMC102178P2;RAG2;SHGC-147088 FLJ38678 HEPIS;OTTHUMP00000232798;OTTHUMP00000232799;hypothetical protein LOC119710;uncharacterized protein C11orf74 protein-coding ENSG00000166352 HGNC:25142 14019 REVIEWED 2298933 C11orf86 chromosome 11 open reading frame 86 11 11 11 q13.2 64071255 64072980 + 66742754 66744479 + 66975283 66977008 + 21926972 254439 A6NJI1 ABBA01024054;AK026328;AMYH02024984;AP003176;NM_001136485 A6NJI1;NP_001129957 Hs.232604 FLJ22675 OTTHUMP00000204297;hypothetical protein LOC254439;uncharacterized protein C11orf86 protein-coding ENSG00000173237 HGNC:34442 PREDICTED 1604186 C11orf85 chromosome 11 open reading frame 85 11 11 11 q13.1 62031898 62065337 - 64705702 64739565 - 64938230 64972093 - 12477932;14702039 283129 B3KS99;E9PPE5;E9PRZ4;H0YEC1;Q3KP22 ABBA01024138;ABBA01024139;AK093130;AMYH02024946;AMYH02024947;AMYH02024948;AP000436;AP001187;BC033501;BC106951;BC106952;CH471076;DB445650;HY050994;NM_001037225;NM_001300803;XM_005273918;XM_005273920;XM_006718502;XM_006718503;XM_006718504;XM_006718505;XM_006718506 AAI06952;AAI06953;BAG52661;EAW74328;NP_001032302;NP_001287732;Q3KP22;XP_005273975;XP_005273977;XP_006718565;XP_006718566;XP_006718567;XP_006718568;XP_006718569 Hs.567793 1648536;1684491;1709622;2124233 G33093;G33094;RH92578;SHGC-85173 MGC126364 OTTHUMP00000230539;hypothetical protein LOC283129;uncharacterized protein C11orf85 protein-coding ENSG00000168070 HGNC:27441 18761 VALIDATED 1604233 C11orf84 chromosome 11 open reading frame 84 INTERACTS WITH paracetamol; valproic acid; zinc atom 11 11 11 q13.1 60906819 60921088 + 63580846 63595190 + 63813374 63827718 + 6480464 12477932;17207965;18271526;19471022;20462248;21252943;21693764;22554406;23246001;24163370;24337577;24654937;24816145 144097 H0YGK9;H0YGY5;Q9BUA3 ABBA01003271;AMYH02024919;AMYH02024920;AP006289;BC002782;BC007540;BC056402;CH471076;CR749697;NM_138471;XM_005273782;XM_005273783;XM_005273784;XM_006718437 AAH02782;AAH07540;AAH56402;ADQ33061;CAH18477;EAW74172;NP_612480;Q9BUA3;XP_005273839;XP_005273840;XP_005273841;XP_006718500 Hs.502793 1679111 RH92977 DKFZp762N0114 OTTHUMP00000236746;hypothetical protein BC007540;hypothetical protein LOC144097;uncharacterized protein C11orf84 protein-coding ENSG00000168005 HGNC:25115 14064 PREDICTED 1604683 C11orf87 chromosome 11 open reading frame 87 FOUND IN integral component of membrane (inferred); INTERACTS WITH trichostatin A; valproic acid 11 11 11 q22.3 106447057 106454104 + 109292570 109299893 + 109421844 109429167 + 6480464 12477932;14702039;16344560;23602568 399947 Q6NUJ2 AB096240;ABBA01039849;AK091086;AK303693;AMYH02025563;AP000775;BC035798;BC068577;CH471065;DA221578;DA232989;NM_207645;XM_005271544 AAH35798;AAH68577;BAG64681;EAW67125;NP_997528;Q6NUJ2;XP_005271601 Hs.172982 1655103;2159044;2162976;2172180;2172182 2042;A006D24;G20722;RH66482;WI-12221 FLJ33767;LOH11CR1A;NEURIM1 OTTHUMP00000233418;hypothetical protein LOC399947;neuronal integral membrane protein 1;uncharacterized protein C11orf87 protein-coding ENSG00000185742 HGNC:33788 14218 VALIDATED 2301118 C11orf91 chromosome 11 open reading frame 91 INTERACTS WITH 6-propyl-2-thiouracil (ortholog); dibutyl phthalate (ortholog); methimazole (ortholog) 11 11 11 p13 33867158 33869790 - 33719654 33722286 - 33698108 33700740 - 6480464 11181995 100131378 H0YDE1;Q3C1V1 AB231759;AB231760;ABBA01060883;ABBA01060884;AL049629;AMYH02024574;CH471064;NM_001166692 BAE46895;BAE46896;EAW68194;NP_001160164;Q3C1V1 Hs.709466 OTTHUMP00000232606;hypothetical protein LOC100131378;uncharacterized protein C11orf91 protein-coding HGNC:34444 VALIDATED 1602158 C11orf88 chromosome 11 open reading frame 88 11 11 11 q23.1 108538699 108560942 + 111385510 111407756 + 111514785 111537031 + 6480464 12477932 399949 E9PN74;H0YE60;Q6PI97 ABBA01039819;AI829856;AK128145;AMYH02025573;AP002008;BC039505;CH471065;NM_001100388;NM_207430 AAH39505;BAC87297;EAW67142;NP_001093858;NP_997313;Q6PI97 Hs.411600 2111778 D11S4475 FLJ46266 OTTHUMP00000234048;OTTHUMP00000234049;OTTHUMP00000234050;UPF0722 protein C11orf88;hypothetical gene supported by BC039505;hypothetical protein LOC399949 protein-coding ENSG00000183644 HGNC:25061 13529 VALIDATED 4108561 C11orf96 chromosome 11 open reading frame 96 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; aflatoxin B1 11 11 11 p11.2 44109952 44111266 + 43964106 43965433 + 43942556 43943883 + 6480464 12477932 387763 E9PKL4;Q7Z7L8 ABBA01060773;ABBA01060774;AC087521;AMYH02024680;BC052560;NM_001145033 AAH52560;NP_001138505;Q7Z7L8 Hs.530443 1682073 RH93880 AG2 OTTHUMP00000233416;protein Ag2 homolog;uncharacterized protein C11orf96 protein-coding ENSG00000187479 HGNC:38675 VALIDATED 7821812 C11orf97 chromosome 11 open reading frame 97 INTERACTS WITH 6-propyl-2-thiouracil (ortholog); methimazole (ortholog) 11 11 11 q21 91533505 91553099 + 94245695 94265289 + 94512529 94532123 + 6480464 20379614 643037 ABBA01040027;ABBA01040028;ABBA01040029;AMYH02025373;AP000943;HG504102;KF455449;KF455450;NM_001190462 NP_001177391 Hs.97691 LINC01171;RP11-867G2.2 long intergenic non-protein coding RNA 1171;uncharacterized protein LOC643037 APPROVED protein-coding HGNC:49544 VALIDATED 9587562 C11orf98 chromosome 11 open reading frame 98 11 q12.3 62662817 62665216 - 15146197 102288414 ABBA01003235;AMYH02024895;AMYH02024896;AP001458;BF207356;BG563566;BG681685;BQ231052;BX107288;CN256679;NM_001286086;NR_104414 NP_001273015 Hs.9061 C11orf48 uncharacterized protein LOC102288414 protein-coding ENSG00000278615 HGNC:51238 VALIDATED 3543119 C11orf94 chromosome 11 open reading frame 94 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 6-propyl-2-thiouracil (ortholog); methimazole (ortholog) 11 11 11 p11.2 46075690 46076438 - 45928085 45928833 - 45906534 45907282 - 6480464;8554872 11181995 143678 C9JXX5 ABBA01060758;AC068385;AMYH02024693;CH471064;CS110276;CS441543;LN608380;NG_012153;NM_001080446 C9JXX5;CAJ09917;CAL68853;EAW68025;NP_001073915 Hs.193741 1700176 RH103702 OTTHUMP00000234738;hypothetical protein LOC143678;uncharacterized protein C11orf94 protein-coding ENSG00000234776 HGNC:37213 VALIDATED 2910589 C11orf95 chromosome 11 open reading frame 95 INTERACTS WITH cyclosporin A; paracetamol; valproic acid 11 11 11 q13 60853238 60859651 - 63527364 63536113 - 63759892 63768641 - 6480464 12477932;14702039;20607705;21274402;23672313 65998 C9JLR9 AB231750;AB231751;AB231752;ABBA01003264;ABBA01003265;ABBA01003266;AK096306;AMYH02024918;AP006289;BC000572;BC021866;BC033262;BC065479;NM_001144936 BAE46893;C9JLR9;NP_001138408 Hs.191073 1658131;1786238 D7S2862;SHGC-132011 MGC3032;RP11-466C23.3 hypothetical protein LOC65998;uncharacterized protein C11orf95 protein-coding ENSG00000188070 HGNC:28449 615699 PREDICTED 1351175 C12orf15 chromosome 12 open reading frame 15 404282 HGNC:31383 1350875 C12orf10 chromosome 12 open reading frame 10 INVOLVED IN locomotory exploration behavior (inferred); FOUND IN extracellular vesicular exosome; mitochondrion; nucleus; INTERACTS WITH tunicamycin; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 q13 53342755 53350242 + 53693132 53700965 + 53299686 53307181 + 6480464 12477932;15146197;15231748;16263121;16996721;17207965;18624398;18781797;19014353;20377893;21139048;21693764;22505724;22863883;22939629;23706493 60314 F8VQQ3;F8VR84;H3BPH3;Q86UA3;Q9HB07 AA972697;ABBA01008325;AC073611;AF111805;AF289485;AK293449;AMYH02026517;BC013956;BC028904;BC051871;BM551107;CH471054;CN308888;NM_021640 AAG17847;AAH13956;AAH28904;AAH51871;AAL39007;ADQ33071;ADZ15817;BAG56948;EAW96687;EAW96688;EAW96689;EAW96690;NP_067653;Q9HB07 Hs.655988 1659302;1672010;1736262;2146252;2149106 D12S1190E;D12S1220E;RH11320;RH15738;SHGC-31943 Gamm1;MST024;MSTP024;MYG;MYG1 OTTHUMP00000242634;OTTHUMP00000242636;OTTHUMP00000242637;UPF0160 protein MYG1, mitochondrial;melanocyte proliferating gene 1;melanocyte related protein-coding ENSG00000139637 HGNC:17590 10705 611366 VALIDATED 1606480 C12orf29 chromosome 12 open reading frame 29 INVOLVED IN hematopoietic progenitor cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; methyl methanesulfonate; valproic acid 12 12 12 q21.32 88097282 88111951 + 88429268 88443937 + 88035491 88050160 + 6480464;8554872 11076863;11230166;12477932;14702039;15489336;16381901;21139048;21890473;21963094;24654937;24816145 91298 G3V1X7;Q8N999 ABBA01053428;AC091516;AK095477;AK311153;AK311222;AL049382;AL137488;AMYH02026897;BC035136;BC058014;BC092422;BX537868;BX640968;BX648026;CH471054;CR936776;NM_001009894 AAH35136;AAH58014;AAH92422;BAC04555;CAB70767;CAD97870;CAE45983;CAH10541;CAL37802;EAW97409;EAW97410;EAW97411;EAW97412;NP_001009894;Q8N999 Hs.591009 1653957;1674616;1686708;2118522 RH15617;RH77897;RH77993;WI-22205 DKFZp313K0436;DKFZp434N2030;DKFZp686L04169;FLJ38158;MGC102978 OTTHUMP00000242335;hypothetical protein LOC91298;uncharacterized protein C12orf29 protein-coding ENSG00000133641 HGNC:25322 13199 VALIDATED 1606876 C12orf42 chromosome 12 open reading frame 42 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH arsenite(3-) 12 12 12 q23.2 103359877 103553591 - 103631369 103889788 - 103237591 103496010 - 6480464;8554872 12477932;14702039;15489334;16344560;20379614;20659153;21878436 374470 F8VV63;F8VX61;F8W1Y6;Q96LP6 AA992269;ABBA01053216;ABBA01053217;ABBA01053218;ABBA01053219;ABBA01053220;ABBA01053221;AC068643;AC084364;AC090000;AC126176;AK058052;AMYH02027080;AMYH02027081;AMYH02027082;BC039352;BC044617;BC117392;BC117394;BI830750;CH471054;DB027973;DB045383;HY002043;HY015666;HY193513;NM_001099336;NM_001278419;NM_001278420;NM_198521;NR_103526;XM_006719377;XM_006719378;XM_006719379;XM_006719380;XM_006719381 AAH44617;AAI17393;AAI17395;ADR83362;BAB71641;EAW97704;EAW97705;EAW97706;EAW97707;EAW97708;EAW97709;NP_001092806;NP_001265348;NP_001265349;NP_940923;Q96LP6;XP_006719440;XP_006719441;XP_006719442;XP_006719443;XP_006719444 Hs.534649 1697698;1718437 RH102365;RH123234 FLJ25323;MGC43592;MGC57409 OTTHUMP00000242560;OTTHUMP00000242657;hypothetical protein LOC374470;uncharacterized protein C12orf42 protein-coding ENSG00000179088 HGNC:24729 13393 VALIDATED 1603965 C12orf43 chromosome 12 open reading frame 43 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; uranium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 q24.31 121076267 121090198 - 121440835 121454300 - 121002422 121016502 - 6480464;8554872 12477932;14702039;15342556;15489334;16344560;17081983;18940312;19198612;21044950;21203500;22939635;24816145;8125298;8619474;9110174 64897 B4DRA4;B4DWJ9;E7ENF1;F5H2A0;F5H3K2;F5H7W8;F5H8B7;G5EA44;H0YF83;H0YGK4;Q96C57 ABBA01020149;AC079602;AK022510;AK222630;AK225162;AK299170;AK301566;AK307971;AMYH02027387;BC014661;BP201132;BP343829;CH471054;DA014862;DC297725;NM_001286191;NM_001286192;NM_001286195;NM_001286196;NM_001286197;NM_001286198;NM_022895;NR_104409 AAH14661;BAB14068;BAD96350;BAG61216;BAG63061;EAW98229;EAW98230;EAW98231;EAW98232;EAW98233;NP_001273120;NP_001273121;NP_001273124;NP_001273125;NP_001273126;NP_001273127;NP_075046;Q96C57 Hs.528671 5022383 ECD04345 FLJ12448 OTTHUMP00000240207;OTTHUMP00000240208;OTTHUMP00000240209;OTTHUMP00000240210;OTTHUMP00000240211;OTTHUMP00000240212;OTTHUMP00000240213;hypothetical protein LOC64897;uncharacterized protein C12orf43 protein-coding ENSG00000157895 HGNC:25719 07771 VALIDATED 1322478 C12orf4 chromosome 12 open reading frame 4 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 1-chloro-2,4-dinitrobenzene; 4-(ethoxymethylene)-2-phenyloxazol-5-one; atrazine 12 12 12 p13.3 6218946 6269682 - 4596899 4647674 - 4487733 4538508 - 6480464;8554872 11062477;12477932;15489334;20558539;21139048;21890473;21906983;21963094;25122211 57102 F5GXX6;F5H271;F5H744;H0YGS6;Q9NQ89 ABBA01048764;AC005832;AC008012;AC092826;AJ272205;AK024811;AK074479;AL834377;AMYH02025925;AMYH02025926;AMYH02025927;BC016908;BX641128;CH471116;NM_020374;XM_005253716;XM_006718992 AAH16908;ADZ15508;CAC01126;CAD39040;CAE46058;EAW88845;EAW88846;NP_065107;Q9NQ89;XP_005253773;XP_006719055 Hs.302977 1665600;1674974;1682097;2168235;2191159 MARC_15597-15598:1013621652:1;RH66493;WI-15553;WI-17772;WI-17773 FLJ21158;FLJ23899 OTTHUMP00000238409;OTTHUMP00000238410;hypothetical protein LOC57102;uncharacterized protein C12orf4 protein-coding ENSG00000047621 HGNC:1184 12609 PROVISIONAL 1606924 C12orf40 chromosome 12 open reading frame 40 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 12 12 12 q12 38824188 38919753 + 40019972 40115716 + 39626170 39721914 + 8554872 12477932;14702039 283461 Q86WS4 ABBA01049534;ABBA01049535;ABBA01049536;ABBA01049537;ABBA01049538;AC121336;AC125491;AK097445;AL705293;AMYH02026333;BC038754;BC048120;BI461967;CH471111;EU668334;NM_001031748;XM_005268806;XM_006719358;XR_245921 AAH38754;AAH48120;ACF94487;BAC05057;EAW57808;EAW57809;EAW57810;NP_001026918;Q86WS4;XP_005268863;XP_006719421 Hs.648205 1671906 DXS7407 FLJ40126;HEL-206 OTTHUMP00000164934;OTTHUMP00000164935;epididymis luminal protein 206;hypothetical protein LOC283461;uncharacterized protein C12orf40 protein-coding ENSG00000180116 HGNC:26846 08806 VALIDATED 1606744 C12orf45 chromosome 12 open reading frame 45 INTERACTS WITH aflatoxin B1; benzo[a]pyrene; calcitriol 12 12 12 q23.3 105044774 105053181 + 105380098 105388505 + 104986320 104994727 + 6480464 12477932;15489334;17643375;21988832;24250222;24816145 121053 J3KN91;Q8N5I9 ABBA01053189;AC090051;AMYH02027106;BC032326;BG829346;CH471054;NM_152318 AAH32326;ABM82575;ABM85764;EAW97754;NP_689531;Q8N5I9 Hs.295563 MGC40397 OTTHUMP00000242209;OTTHUMP00000242210;hypothetical protein LOC121053;uncharacterized protein C12orf45 protein-coding ENSG00000151131 HGNC:28628 17556 VALIDATED 1602859 C12orf49 chromosome 12 open reading frame 49 FOUND IN extracellular region (inferred); INTERACTS WITH calcitriol; cyclosporin A; testosterone 12 12 12 q24.22 116783149 116805394 - 117151289 117175868 - 116713603 116738063 - 6480464 12477932;19322201 79794 F8VPB4;F8VVN2;H0YHS8;Q9H741 ABBA01020022;AC090013;AC125603;AK025068;AK222983;AK298857;AK309652;AMYH02027299;BC019843;CH471054;NM_024738;XM_005253937 AAH19843;BAB15058;BAD96703;BAH12886;EAW98088;EAW98089;NP_079014;Q9H741;XP_005253994 Hs.592011 1681302 RH65029 FLJ21415 OTTHUMP00000240981;UPF0454 protein C12orf49;hypothetical protein LOC79794 protein-coding HGNC:26128 07962 PREDICTED 1605567 C12orf50 chromosome 12 open reading frame 50 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 12 12 12 q21.32 88041830 88091190 - 88373816 88423176 - 87980039 88029399 - 8554872 12477932;14702039;17207965;20379614;22632162 160419 F8VSD7;F8VXH4;Q8NA57 ABBA01053428;AC090060;AC091516;AK093140;AL833338;AMYH02026897;BC038413;BC062424;CH471054;HC006980;KF455695;NM_152589;XM_005268685;XM_005268686;XM_005268687 AAH38413;AAH62424;ADQ32974;BAC04071;CBH19295;EAW97406;EAW97407;EAW97408;NP_689802;Q8NA57;XP_005268742;XP_005268743;XP_005268744 Hs.112930 1715463;5015609;5016403;5022637 D11S2766;D11S3026;G02304;RH120896 FLJ35821 OTTHUMP00000242331;OTTHUMP00000242332;OTTHUMP00000242333;hypothetical protein LOC160419;uncharacterized protein C12orf50 protein-coding ENSG00000165805 HGNC:26665 08764 PROVISIONAL 1603368 C12orf56 chromosome 12 open reading frame 56 INTERACTS WITH trichostatin A; valproic acid 12 12 12 q14.2 64326691 64449194 - 64660763 64784345 - 64266983 64390565 - 6480464 12477932;20379614;24324551 115749 H0YGI1;Q8IXR9 ABBA01026604;ABBA01026605;ABBA01026606;ABBA01026607;ABBA01026608;ABBA01026609;ABBA01026610;AC012158;AC135279;AMYH02026658;AMYH02026659;AMYH02026660;AMYH02026661;AMYH02026662;BC014352;BC015121;BC039369;BX089271;NM_001099676;NM_001170633 AAH39369;NP_001093146;NP_001164104;Q8IXR9 Hs.535190 OTTHUMP00000239446;OTTHUMP00000239447;hypothetical protein LOC115749;uncharacterized protein C12orf56 protein-coding HGNC:26967 VALIDATED 1606175 C12orf54 chromosome 12 open reading frame 54 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; arsenite(3-); ethyl methanesulfonate 12 12 12 q13.11 47672318 47686326 + 48876283 48890297 + 48482500 48496514 + 6480464;8554872 12477932;15489334 121273 C9IYT5;H0YIT5;Q6X4T0 ABBA01031481;AC089987;AMYH02026422;AY255793;AY255794;BC031670;BF510008;BQ429029;CH471111;HC007156;KF459679;NM_152319;XM_005268635;XM_005268636;XM_006719232;XM_006719233;XR_245893 AAH31670;AAP15250;AAP15251;CBH19383;EAW57984;EAW57985;EAW57986;NP_689532;Q6X4T0;XP_005268692;XP_005268693;XP_006719295;XP_006719296 Hs.98202 1682243;1714429 RH120207;RH92571 HSD-29;HSD-30;MGC35033 OTTHUMP00000242624;hypothetical protein LOC121273;uncharacterized protein C12orf54 protein-coding ENSG00000177627 HGNC:28553 14596 VALIDATED 1606152 C12orf60 chromosome 12 open reading frame 60 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; quercetin 12 12 12 p12.3 20101493 20121778 + 14955997 14976792 + 14803063 14823858 + 6480464;8554872 12477932;14702039;15489334;23449627 144608 Q5U649 ABBA01067886;AC007655;AK056213;AK289942;AMYH02026095;BC015546;BC029443;BC038836;CH471094;NM_175874;XM_005253322;XM_005253323 AAH15546;AAH29443;AAH38836;BAF82631;EAW96330;NP_787070;Q5U649;XP_005253379;XP_005253380 Hs.659951 1698388;2143264;2190885;5022200 G41310;L18426;MARC_10307-10308:998934573:1;RH102736 FLJ31651;MGC47869 OTTHUMP00000236005;hypothetical protein LOC144608;uncharacterized protein C12orf60 protein-coding HGNC:28726 11358 VALIDATED 1317526 C12orf5 chromosome 12 open reading frame 5 This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008] 12 12 12 p13.3 6052425 6091264 + 4430359 4469194 + 4321193 4360028 + 6480464;6907045 11062477;11076863;11256614;12477932;15489334;15489336;16012775;16140933;16381901;16839873;16839880;18945750;19471022;19684603;19713938;21057531;21139048;21761199;21820150;21832049;21864926;21890473;21906983;21988832;22782351;22887998;22939629;23185017;23263487;23377640;23612020;23640457;23726973;23817040;23832602;24036271;24250222;24363807;24423178;24632713;24816145 57103 Q9NQ88 ABBA01048765;ABBA01048766;AC006122;AC008012;AJ272206;AK313226;AMYH02025921;AMYH02025922;AMYH02025923;AY425618;BC012340;BX098281;CH471116;DB480618;NM_020375;XM_006718993 AAH12340;AAQ98969;BAG36037;CAC01127;CAL37493;EAW88849;EAW88850;NP_065108;Q9NQ88;XP_006719056 Hs.504545 1336295;1652360;1657959;1777182;2133985;5014563;5016478;5022200;5022588 D12S1725;D5S1597E;G41261;G41262;GDB:434012;L17676;L18426;SHGC-32311;STS-N39260 FR2BP OTTHUMP00000237991;TIGAR;TP53-induced glycolysis and apoptosis regulator;fructose-2,6-bisphosphatase TIGAR;fructose-2,6-bisphosphate 2-phosphatase;probable fructose-2,6-bisphosphatase TIGAR;transactivated by NS3TP2 protein APPROVED protein-coding HGNC:1185 12610 610775 REVIEWED 1606749 C12orf57 chromosome 12 open reading frame 57 This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] 12 12 12 p13.31 8671824 8673786 + 7052146 7055165 + 6944040 6946002 + 6480464;8699517;8554872;7240710 12477932;15489334;19204726;21890473;22505724;22939629;23453665;23453666;23633300;24798461;9074930;9224939;9445485 113246 F5GXW5;Q99622;U3KQ07;U3KQ85 ABBA01017669;AK310266;AK311912;AMYH02025958;AV751928;BC009925;BE888740;BM687523;BM781587;BP318750;CB161655;CH471116;DB494917;NG_034262;NM_001301834;NM_001301836;NM_001301837;NM_001301838;NM_138425;NR_126035;U47924 AAB51329;AAH09925;BAG34853;EAW88705;NP_001288763;NP_001288765;NP_001288766;NP_001288767;NP_612434;Q99622 Hs.405913 2137943;2165198 RH11235;SHGC-31976 C10;FLJ17308;GRCC10 OTTHUMP00000239933;OTTHUMP00000239934;OTTHUMP00000239935;TEMTYS;likely ortholog of mouse gene rich cluster, C10 protein-coding ENSG00000111678 HGNC:29521 13609 218340;615140 REVIEWED 1603337 C12orf63 chromosome 12 open reading frame 63 12 12 q23.1 96707785 96825069 + 97041753 97159048 + 6480464 14702039;16344560;20379614;21890473 374467 Q6ZTY8 AC007564;AC008118;AK126100;CH471054;DB225896;XM_003846561 AAI48604;AAI53168;BAC86439;EAW97575;Q6ZTY8;XP_003846609 Hs.436197 1724305;1787824;1794162;2117458;5114476 D12S1055;PMC310794P9;RH119073;SHGC-173507;SHGC-17530 FLJ44112 putative uncharacterized protein C12orf63 protein-coding HGNC:24777 13484 1603179 C12orf66 chromosome 12 open reading frame 66 INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 12 12 12 q14.2 64251311 64281090 - 64580098 64616076 - 64186318 64222296 - 6480464 11752456;12477932;14702039;24483146 144577 F5H2Q3;J3KNH0;Q96MD2 ABBA01026612;AC012158;AK057111;AK095383;AK129933;AMYH02026654;AMYH02026655;AMYH02026656;AV653957;BC036246;BC071634;CH471054;DB313913;KF459550;NM_001300940;NM_001300941;NM_152440;W44639;XM_005268677 AAH71634;BAB71367;EAW97124;NP_001287869;NP_001287870;NP_689653;Q96MD2;XP_005268734 Hs.444671;Hs.505871 1680555;1700006;2115694;2117039;2171642;5015404;5015861;5015879;5024039;5024413;5024756;7185938 A008W05;D10S16;D16S325;GDB:314949;L17705;L17877;RH103615;RH80030;RH98970;SHGC-32073;WI-18097 FLJ32549 OTTHUMP00000239362;OTTHUMP00000239363;OTTHUMP00000239364;UPF0536 protein C12orf66;hypothetical protein LOC144577 protein-coding ENSG00000174206 HGNC:26517 08727 VALIDATED 1605601 C12orf65 chromosome 12 open reading frame 65 This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 12 12 12 q24.31 123309422 123334084 + 123717844 123742651 + 123233297 123258104 + 6480464;7240710;8699517;8554872 12477932;14702039;17207965;20301682;20598281;21832049;21988832;22688947;22821833;23188110;23974872;24080142;24198383;24250222;24284555;24816145 91574 F5GWJ6;F5H4X5;F5H5V8;Q9H3J6 ABBA01060430;ABBA01060431;AC068768;AC073857;AF061733;AK025908;AK095982;AMYH02027451;AMYH02027452;BC018145;BC020885;BC062329;BI850864;BU507560;CH471054;NG_027517;NM_001143905;NM_001194995;NM_152269;XM_005253630;XM_005253631 AAG43144;AAH18145;AAH20885;AAH62329;ADQ32685;BAC04665;EAW98395;EAW98396;NP_001137377;NP_001181924;NP_689482;Q9H3J6;XP_005253687;XP_005253688 Hs.319128 1647433;1673153;2123703;5015619;5022578;5024039;5037552;5109281 D11S3114;D12S1445;D16S325;D1S1423;D1S1425;D8S2279;RH45719;STS-W93806 COXPD7;FLJ38663;SPG55 OTTHUMP00000239631;probable peptide chain release factor C12orf65, mitochondrial APPROVED protein-coding ENSG00000130921 HGNC:26784 08791 613541;613559;615035 REVIEWED 2302460 C12orf71 chromosome 12 open reading frame 71 12 12 12 p11.23 32380143 32381608 - 27233990 27235455 - 27081057 27082522 - 11181995 728858 A8MTZ7 ABBA01068044;AC092747;AMYH02026244;CH471094;NM_001080406 A8MTZ7;EAW96548;NP_001073875 Hs.334003 OTTHUMP00000240652;hCG1794298;hypothetical protein LOC728858;uncharacterized protein C12orf71 protein-coding ENSG00000214700 HGNC:34452 INFERRED 2301389 C12orf73 chromosome 12 open reading frame 73 FOUND IN extracellular region (inferred); INTERACTS WITH valproic acid 12 12 12 q23.3 104007750 104014765 - 104343980 104350993 - 103950202 103957215 - 6480464 12477932;14702039;24816145 728568 F8VQR3;F8VS87;F8VXG8;G3V1W1;Q69YU5 AA563681;ABBA01053210;AC078819;AK024037;AL359596;AMYH02027089;BC039467;BC044618;BC063467;BC073939;CH471054;FB746598;FB746692;NM_001135570 CAH10667;CAT04625;CAT04659;EAW97726;NP_001129042;Q69YU5 Hs.42547 1682283;1736258;2116292;2176613 D12S1216E;RH91861;STS-H98648;WI-22235 DKFZp547P055;FLJ13975 OTTHUMP00000242869;OTTHUMP00000242874;hypothetical protein LOC728568;uncharacterized protein C12orf73 protein-coding ENSG00000204954 HGNC:34450 VALIDATED 2303668 C12orf75 chromosome 12 open reading frame 75 INTERACTS WITH benzo[a]pyrene; cobalt dichloride; cyclosporin A 12 12 12 q23.3 105388672 105429552 + 105724414 105765296 + 105330636 105371518 + 6480464 11890990;12477932;14702039;19322201;19531736;23419831 387882 F8VQD4;F8VXK5;F8W1S6;Q8TAD7 AB735446;AB735447;ABBA01053184;AC011313;AC078874;AC127900;AJ311377;AJ311378;AK056999;AMYH02027111;AMYH02027112;AMYH02027113;BC013920;BC045812;BC061920;BC067897;BC126980;BC127012;BC131552;BQ021766;CH471054;HF679086;NM_001145199 AAH13920;AAH45812;AAH61920;AAH67897;AAI26981;AAI27013;BAM34484;CAC85391;CAC85392;EAW97765;EAW97766;NP_001138671;Q8TAD7 Hs.368938 1336679;1663085;5126705 D12S1597;SHGC-32919;STS-W19229 AGD3;MGC148100;MGC149157;OCC-1;OCC1 OTTHUMP00000242518;OTTHUMP00000242521;adipogenesis down-regulated 3;hypothetical protein LOC387882;overexpressed in colon carcinoma 1 protein;overexpressed in colon carcinoma-1;putative overexpressed in colon carcinoma-1 protein variant C;uncharacterized protein LOC387882 protein-coding ENSG00000235162 HGNC:35164 17368 VALIDATED 2303686 C12orf74 chromosome 12 open reading frame 74 12 12 12 q22 92767866 92773448 + 93096619 93102325 + 92702843 92708549 + 12477932;16344560;24024966 338809 Q32Q52 ABBA01053392;AC016136;AMYH02026931;BC043363;BC043364;BC105728;BC107813;CH471054;DB196554;NM_001037671;NM_001178097 AAI05729;AAI07814;EAW97470;NP_001032760;NP_001171568;Q32Q52 Hs.326303 MGC125584 OTTHUMP00000242833;OTTHUMP00000242834;hypothetical protein LOC338809;uncharacterized protein C12orf74 protein-coding ENSG00000214215 HGNC:27887 VALIDATED 1604429 C12orf76 chromosome 12 open reading frame 76 ENCODES a protein that exhibits ATP binding (inferred); ion channel activity (inferred); purinergic nucleotide receptor activity (inferred); INVOLVED IN ion transmembrane transport (inferred); purinergic nucleotide receptor signaling pathway (inferred); FOUND IN membrane (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; lead(0) 12 12 12 q24.11 110103217 110129734 - 110465401 110505500 - 110022417 110067695 - 6480464 12477932;14702039 400073 F8VV97;F8VYN6;F8VZK6;F8W0P4;Q8N812 ABBA01005085;ABBA01005086;AC007546;AK021447;AK097461;AMYH02027176;AMYH02027177;BC041968;BC046185;BC133010;BC133012;NM_207435;XM_005253882;XM_006719396;XR_243006;XR_429100;XR_429101 AAI33011;AAI33013;BAC05063;NP_997318;Q8N812;XP_005253939;XP_006719459 Hs.44817 2145120;2148959 SHGC-57922;WI-14197 FLJ11385;FLJ40142 OTTHUMP00000240760;hypothetical protein LOC400073;uncharacterized protein C12orf76 protein-coding ENSG00000174456 HGNC:33790 13443 PREDICTED 1348423 C12orf9 chromosome 12 open reading frame 9 12063392 93669 AF393503 HGNC:15949 7247020 C12orf80 chromosome 12 open reading frame 80 12 12 12 q13.13 51401813 51407050 - 52599365 52604639 - 52205581 52210855 - 11181995;12477932;16344560 283403 ABBA01031628;AC021066;AMYH02026499;BC038743;BC117348;BC126393;CH471111;DB098376;DB339709;HG504769;HG504770;NM_001242696 EAW58238;NP_001229625 Hs.667179 RP11-845M18.3 uncharacterized protein LOC283403 protein-coding HGNC:27473 VALIDATED 7245856 C12orf79 chromosome 12 open reading frame 79 INTERACTS WITH all-trans-retinoic acid 12 12 q21.33 92378752 92536447 - 91984976 92142671 - 6480464 12477932;14702039 256021 G3V211 ABBA01053398;ABBA01053399;AC025164;AC123512;AF086029;AK055439;AMYH02026921;AMYH02026922;AMYH02026923;BC029844;BC107595;BC118985;BC122534;CA438667;CH471054;NM_001256373;NM_001256374;NM_001256375;NR_046159;NR_046160 EAW97463;G3V211;NP_001243302;NP_001243303;NP_001243304 Hs.651357 1673364 RH78863 uncharacterized protein C12orf79;uncharacterized protein LOC256021 protein-coding ENSG00000257242 HGNC:27409 VALIDATED 4889302 C13orf41 chromosome 13 open reading frame 41 13 13 q12.13 6754627 6779557 + 25691059 25716046 + 20379614;9294218 100288679 O00249 AL359757;U82306;U82311;XM_003403512;XM_003403658 AAB72230;AAB72232;CAH70806;O00249;Q5VX57;XP_003403560;XP_003403706 Hs.550143 1737429 D13S998 protein-coding HGNC:39276 MODEL 3479035 C12orf77 chromosome 12 open reading frame 77 12 12 12 p12.1 30293267 30297281 - 25146358 25150373 - 24993424 24997439 - 12477932 196415 C9JDV5;G3V1V6 ABBA01068014;AC023510;AMYH02026215;BC035880;BC046192;BC062789;CH471094;KF459549;LN608431;NM_001101339 C9JDV5;EAW96500;NP_001094809 Hs.434453 OTTHUMP00000243153;putative uncharacterized protein C12orf77 protein-coding ENSG00000226397 HGNC:27282 VALIDATED 1343911 C14orf113 chromosome 14 open reading frame 113 q32.2 54792 Q9NXV8 AK000041 BAA90900;Q9NXV8 Hs.675410 FLJ20034 protein-coding HGNC:20216 1350908 C14orf105 chromosome 14 open reading frame 105 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 14 14 14 q22.3 37986663 38010642 - 57936595 57960581 - 57469300 57493863 - 6480464;8554872 12477932;14702039;20379614;8125298 55195 B7ZL43;E9PI50;E9PSE9;F5GWJ3;H0YES7;Q05C89;Q17R99;Q9NVL8 ABBA01018240;AI733133;AK001512;AK223127;AK307238;AL161804;AL355834;AMYH02029260;AMYH02029261;BC028060;BC117405;BC143565;BC143566;BC143567;BC143568;BI760135;BX470593;CH471061;NM_001283056;NM_001283057;NM_001283058;NM_001283059;NM_001283060;NM_018168;XM_005267806;XM_005267807;XM_005267809;XM_005267810;XM_005267811;XM_005267813;XM_005267814;XM_006720188;XM_006720189 AAH28060;AAI17406;AAI43567;AAI43568;ADR83122;BAA91732;BAD96847;EAW80706;EAW80707;NP_001269985;NP_001269986;NP_001269987;NP_001269988;NP_001269989;NP_060638;Q9NVL8;XP_005267863;XP_005267864;XP_005267866;XP_005267867;XP_005267868;XP_005267870;XP_005267871;XP_006720251;XP_006720252 Hs.659706 1706988;1726487;1774607;2145964;2186119 D8S370;G62623;RH46313;SHGC-56607;SHGC-80994 FLJ10650 OTTHUMP00000179017;OTTHUMP00000230653;OTTHUMP00000239180;hypothetical protein LOC55195;uncharacterized protein C14orf105 protein-coding ENSG00000100557 HGNC:20189 12628 VALIDATED 1321865 C14orf1 chromosome 14 open reading frame 1 INVOLVED IN sterol biosynthetic process (inferred); FOUND IN transport vesicle; INTERACTS WITH arachidonic acid; atrazine; cadmium sulfate 14 14 14 q24.3 56155336 56165643 - 76117233 76127538 - 75650890 75661195 - 6480464 10449901;10931946;10967139;11042152;11076863;11160377;11230166;11256614;11910120;12477932;12508121;12958361;15489334;15489336;16169070;16344560;16381901;21139048;21900206;21934552;23142642;24250222;24326590 11161 Q6FII3;Q86TW5;Q9UKR5 AA709128;ABBA01030697;AC007182;AF134159;AF136971;AF161406;AK311764;AL136658;AMYH02029541;BC002444;BX248022;CH471061;CR533443;DB030511;NM_007176 AAD51373;AAD54079;AAF28966;AAG49432;AAH02444;BAG34707;CAB66593;CAD62345;CAG38474;CAL38319;CAL38706;EAW81237;EAW81238;NP_009107;Q9UKR5 Hs.15106 1686790;1740639;2117883;5092672;5121853 A005P29;D14S1268;G32256;RH98534;SHGC-64295 ERG28;NET51 OTTHUMP00000246178;probable ergosterol biosynthetic protein 28 protein-coding HGNC:1187 05201 604576 VALIDATED 1352890 C14orf144 chromosome 14 open reading frame 144 FOUND IN extracellular region (inferred) 14 q32.33 103775312 103780535 + 145195 Q96I85 AL590079;BC007749;CH471061;XM_930354 AAH07749;EAW81862;Q96I85;XP_935447 Hs.679805 ncrna HGNC:20358 1318193 C14orf119 chromosome 14 open reading frame 119 ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; potassium chromate 14 14 14 q11.2 3427493 3432371 + 23564683 23569665 + 23095474 23100456 + 6480464;8554872 12477932;14702039;15489334;16169070;16344560;18029348;21906983;24250222 55017 Q9NWQ9 ABBA01061307;AF061731;AK000678;AK024794;AL117258;AMYH02028864;AMYH02028865;BC009645;BC056255;BC061637;CH471078;CR457248;DA605680;NG_030461;NM_017924 AAG43142;AAH09645;AAH56255;AAH61637;BAA91320;CAG33529;EAW66185;NP_060394;Q9NWQ9 Hs.525238;Hs.735365 1689261;5037552 D8S2279;RH8142 FLJ20671;FLJ21141;MGC74723 My028 protein;OTTHUMP00000164568;OTTHUMP00000246130;uncharacterized protein C14orf119 protein-coding ENSG00000179933 HGNC:20270 16595 VALIDATED 1318068 C14orf151 chromosome 14 open reading frame 151 q32.33 12477932;12665801 84800 AL583722;BC006173;BX248757;CH471061;CR612331;NM_032714 AAH06173;CAD66564;EAW81872;NP_116103;Q86TR7;Q9BRM1 Hs.317821 MGC13251 protein-coding HGNC:20490 16611 1350098 C14orf132 chromosome 14 open reading frame 132 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 5-fluorouracil; atrazine 14 14 14 q32.2 76561402 76615873 + 96505661 96560226 + 96039324 96093971 + 6480464;8554872 12477932;14702039;15489334;16344560;21697133;8619474;9110174 56967 Q9NPU4 AB621830;ABBA01048597;ABBA01048598;AF131832;AK001590;AK022021;AK025915;AK074462;AK313017;AL137190;AL390130;AMYH02029802;BC042922;BC043593;BC067267;BI791809;CA434364;CH471061;DA114412;DA249054;DA328471;DA811354;DB264577;LN608542;LN608543;LN608544;LN608545;NM_001252507;NM_001282463;NM_001282464;NM_001289139 BAG35852;CAB99085;EAW81626;EAW81627;EAW81628;NP_001239436;NP_001269392;NP_001269393;NP_001276068;Q9NPU4 Hs.6434;Hs.733033 1658192;1689420;1739413;1757259;1774885;2117160;2137893 D14S823E;D14S856;RH11213;RH91762;SHGC-144677;SHGC-53366;T16162 C14orf88;DKFZp761F2014;FLJ10728;FLJ93483 putative uncharacterized protein C14orf132;uncharacterized protein C14orf132 protein-coding HGNC:20346 16603 VALIDATED 1350524 C14orf16 chromosome 14 open reading frame 16 414762 HGNC:19435 1346081 C14orf142 chromosome 14 open reading frame 142 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; cyclosporin A 14 14 14 q32.12 73723243 73727465 - 93669237 93673459 - 93202892 93207114 - 6480464;8554872 12477932;15489334;22863883;22912744;23455922;24816145 84520 H0YJA8;Q9BXV9 ABBA01030435;AF277185;AL110118;AMYH02029770;BC021733;BC065216;BC107429;BC109390;BF131439;CH471061;NM_032490 AAH21733;AAH65216;AAI07430;AAI09391;AAK07544;EAW81519;EAW81520;NP_115879;Q9BXV9 Hs.20142 1651636;2123374 RH70184;STS-W90738 MGC104244;MGC133207;PNAS-127 OTTHUMP00000245675;OTTHUMP00000245676;hypothetical protein LOC84520;uncharacterized protein C14orf142 protein-coding ENSG00000170270 HGNC:20356 16608 VALIDATED 1323376 C14orf159 chromosome 14 open reading frame 159 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; thapsigargin 14 14 14 q32.11 71628800 71740164 + 91526677 91691976 + 91114013 91225396 + 6480464;8554872 11076863;11230166;12477932;12975309;14702039;15489334;15489336;15790807;16344560;16381901;20877624;21832049;8125298;8889549 80017 B3KVU6;E5RFT5;E5RFZ6;E5RGN8;E5RGP9;E5RHG2;E5RIL4;E5RIU5;E5RJ62;E5RJ87;E5RJD1;E5RJL7;E5RK14;E5RK56;G8JLP2;H0YB09;H0YB11;H0YB62;Q4LE40;Q7Z3D6 AA192653;AB210031;ABBA01030482;ABBA01030483;ABBA01030484;ABBA01030485;ABBA01030486;ABBA01030487;AI825879;AK022564;AK023200;AK024603;AK091394;AK097262;AK097294;AK098752;AK123532;AK222531;AK308857;AL121784;AL135818;AL602721;AMYH02029738;AMYH02029739;AX879358;AX882684;AY358516;AY927602;BC009182;BC010614;BC065558;BX161393;BX247989;BX248060;BX248294;BX248782;BX537970;BX642394;BX647492;CH471061;CR457289;DA296867;DA641301;DB258432;DR003467;NM_001102366;NM_001102367;NM_001102368;NM_001102369;NM_001286470;NM_001286471;NM_001286472;NM_001286473;NM_024952 AAH09182;AAH10614;AAH65558;AAQ88880;BAB14102;BAB14458;BAB14932;BAC03653;BAD96251;BAE06113;BAG53449;BAG53908;CAD61880;CAD62323;CAD62356;CAD62622;CAD66589;CAD97934;CAE90480;CAE91684;CAG33570;CAL37996;EAW81441;EAW81442;EAW81443;EAW81444;NP_001095836;NP_001095837;NP_001095838;NP_001095839;NP_001273399;NP_001273400;NP_001273401;NP_001273402;NP_079228;Q7Z3D6 Hs.309849 1647912;1656146;1707860;1725667;2116596;2120358;2124729;2131831;2148092;2155528;2157778;2158154;2166271;2185680;5113238;5121488 D14S1287;D14S593;D14S765;G35495;G35613;G35745;G35833;G36152;G36221;G36227;G36279;G62042;RH75013;SHGC-82165;STS-AA010373;WI-19880 C14orf160;DKFZp686I02128;FLJ20950;FLJ39943;FLJ39975 OTTHUMP00000228069;OTTHUMP00000228070;OTTHUMP00000228075;OTTHUMP00000228079;OTTHUMP00000228082;OTTHUMP00000228083;OTTHUMP00000228084;OTTHUMP00000228087;OTTHUMP00000228088;OTTHUMP00000228091;UPF0317 protein C14orf159, mitochondrial;hypothetical protein LOC80017;uncharacterized protein LOC80017 protein-coding ENSG00000133943 HGNC:20498 16612 VALIDATED 1312305 C14orf166 chromosome 14 open reading frame 166 ENCODES a protein that exhibits identical protein binding; poly(A) RNA binding; RNA binding; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; tRNA splicing, via endonucleolytic cleavage and ligation; ASSOCIATED WITH Melanoma (inferred); FOUND IN actin cytoskeleton; cytoplasm; nucleus; INTERACTS WITH (+)-catechin; copper(2+) sulfate; cyclosporin A 14 14 14 q22.1 32323222 32338419 + 52456228 52471420 + 51989510 52004702 + 6480464;8554872 10810093;11507205;12477932;15147888;15489334;15635413;1602151;16950395;17043677;17643375;18029348;18685082;19152423;19738201;21139048;21145461;21823664;21890473;21900157;21906983;21963094;21987572;22053931;22174317;22323290;22354994;22505724;22863883;22939629;23000965;23022380;23824909;23864651;24332808;24457600;24608264;24816145 51637 G3V4C6;G3V4E7;H0YJB9;Q549M8;Q9Y224 ABBA01018162;AF087877;AF100755;AF151857;AK312004;AL358333;AMYH02029186;AY817175;BC001722;BF594675;CH471078;DQ525179;KF455891;NM_016039 AAD34094;AAD43019;AAH01722;AAP97177;AAV54070;ABF56619;ABZ92335;BAG34942;EAW65659;EAW65660;EAW65661;NP_057123;Q9Y224 Hs.534457 1652108;1667507;1695112;1753993;2135439;5109761 D14S1197;D14S1201;D14S643E;G48195;HUM0S17C09;SHGC-132026 CGI-99;CGI99;CLE;CLE7;LCRP369;RLLM1 CLE7 homolog;OTTHUMP00000178984;OTTHUMP00000245063;RLL motif containing 1;UPF0568 protein C14orf166;homeobox prox 1 protein-coding HGNC:23169 16615 610858 VALIDATED 1606666 C14orf177 chromosome 14 open reading frame 177 14 14 14 q32.2 79233707 79239856 + 99177950 99184103 + 98711613 98717766 + 12477932;14702039;15489334;17903294;23118302;23251661 283598 F5GYC5;Q52M58 ABBA01048573;AK098639;AL096821;AMYH02029822;BC093661;CH471061;DB523204;NM_182560 AAH93661;BAC05361;EAW81658;EAW81659;NP_872366;Q52M58 Hs.448754 5493237 UniSTS:485416 FLJ25773 OTTHUMP00000236739;OTTHUMP00000236740;hypothetical protein LOC283598;putative uncharacterized protein C14orf177 protein-coding ENSG00000176605 HGNC:26375 08075 PREDICTED 1317046 C14orf169 chromosome 14 open reading frame 169 ENCODES a protein that exhibits histone demethylase activity (H3-K36 specific) (ortholog); histone demethylase activity (H3-K4 specific) (ortholog); iron ion binding (ortholog); INVOLVED IN histone H3-K36 demethylation (ortholog); histone H3-K4 demethylation (ortholog); negative regulation of osteoblast differentiation (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH atrazine; copper atom; copper(0) 14 14 14 q24.3 54021934 54024395 + 73957644 73960105 + 73490939 73493401 + 737633;6480464 12477932 14702039;14742713;15489334;17308053;19615732;19927124;22750859;23620590 79697 Q9H6W3 ABBA01030758;AC005280;AC245368;AK025455;AK299994;AY390535;BC011350;BC071954;BX390965;CN259773;DA509240;DA872764;HY178771;NM_024644 AAH11350;AAH71954;AAR27292;BAB15138;BAG61814;NP_078920;Q9H6W3 Hs.509916 1644664;2122577;2128152;2177870;5021694 G38173;SHGC-56451;STS-Z40969;WI-22498;ksks225 FLJ21802;MAPJD;NO66;ROX;hsNO66 60S ribosomal protein L8 histidine hydroxylase;MYC-associated protein with JmjC domain;OTTHUMP00000233252;bifunctional lysine-specific demethylase and histidyl-hydroxylase NO66;histone lysine demethylase NO66;lysine-specific demethylase NO66;nucleolar protein 66;ribosomal oxygenase NO66 protein-coding ENSG00000170468 HGNC:20968 12641 611919 VALIDATED 1603813 C14orf181 chromosome 14 open reading frame 181 14 14 q24.1 49320211 49321937 - 69261464 69263190 - 14702039;19430480;20378605;20379614 400223 AK097098;AL132986;BP397993;CH471061;NM_207442 AAI48846;AAI52899;BAC04948;EAW80970;NP_997325;Q8N8A1 Hs.655774 FLJ39779 putative uncharacterized protein C14orf181 protein-coding HGNC:33794 13439 VALIDATED 1606667 C14orf178 chromosome 14 open reading frame 178 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); paracetamol (ortholog); potassium dichromate (ortholog) 14 14 14 q24.3 58265685 58274587 + 78227173 78236085 + 77760830 77769742 + 6480464 12477932;14702039;15489334;24250222 283579 F8WAD5;Q8N769 ABBA01030643;AC008372;AK098842;AMYH02029577;BC107147;BC113929;BC113986;NM_001173978;NM_174943 AAI13930;BAC05432;NP_001167449;NP_777603;Q8N769 Hs.375834 FLJ25976;MGC129942 OTTHUMP00000246317;hypothetical protein LOC283579;uncharacterized protein C14orf178 protein-coding ENSG00000197734 HGNC:26385 08080 VALIDATED 1603812 C14orf180 chromosome 14 open reading frame 180 FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol 14 14 14 q32.33 85102104 85112230 + 105046056 105056184 + 104579684 104589847 + 6480464 12477932;14702039;23029450 400258 B4DN93;J3KNP8;Q8N912 ABBA01002996;AK095913;AK297818;AK309489;AMYH02029949;AW451284;BC041103;BX161457;BX337634;BX927359;CH471061;DC329564;NM_001008404;NM_001286399;NM_001286400;XM_005267638;XM_006725159 AAH41103;BAC04645;BAG60155;CAD61919;EAW81864;EAW81865;NP_001008404;NP_001273328;NP_001273329;Q8N912;XP_005267695;XP_006725222 Hs.153827 2124333 RH41919 C14orf77;FLJ38594;NRAC OTTHUMP00000028407;OTTHUMP00000244505;OTTHUMP00000244506;OTTHUMP00000244507;nutritionally-regulated adipose and cardiac enriched protein homolog;nutritionally-regulated adipose and cardiac-enriched;transmembrane protein C14orf180 protein-coding ENSG00000184601 HGNC:33795 17383 VALIDATED 2859192 C14orf184 chromosome 14 open reading frame 184 14 14 q32.12 72087405 72090000 - 92038788 92041383 - 14702039 650662 AF318368;AK091161;AL133373;NM_001080113 AAL55875;NP_001073582;Q8WYT3 Hs.638530 FLJ33842;PP8961 putative uncharacterized protein C14orf184 protein-coding HGNC:37224 VALIDATED 1350643 C14orf22 chromosome 14 open reading frame 22 q12 387977 AI278049;N48783 Hs.143441 1776471 SHGC-37332 protein-coding HGNC:19827 1602424 C14orf183 chromosome 14 open reading frame 183 14 14 14 q21.3 30417514 30426499 - 50550369 50559361 - 50083651 50092643 - 196913 Q8WXQ3 ABBA01018130;AF390030;AL109758;AMYH02029163;CH471078;LN608511;NM_001014830 AAL58840;EAW65733;EAW65734;NP_001014830;Q8WXQ3 Hs.406934 1757163 SHGC-144589 OTTHUMP00000244572;putative uncharacterized protein C14orf183 APPROVED protein-coding ENSG00000168260 HGNC:27285 18572 PREDICTED 1603254 C14orf182 chromosome 14 open reading frame 182 INTERACTS WITH (-)-demecolcine; ethyl methanesulfonate; formaldehyde 14 14 14 q21.3 30315522 30341351 - 50448430 50474238 - 49981712 50007520 - 6480464 12477932;14702039;20379614 283551 A1A4T8;Q8NF59 ABBA01018127;AK090420;AK091232;AL117692;AMYH02029162;BC058283;BC128083;BC144351;CH471078;LN608506;LN608507;LN608509;NM_001012706 A1A4T8;AAI28084;AAI44352;BAC03401;EAW65738;NP_001012724 Hs.660867 2181654;5037552 D8S2279;G35624 MGC149108 OTTHUMP00000236540;hypothetical protein LOC283551;uncharacterized protein C14orf182 protein-coding HGNC:27503 13397 VALIDATED 1352128 C14orf2 chromosome 14 open reading frame 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrial proton-transporting ATP synthase complex (ortholog); INTERACTS WITH cyclosporin A; hydrogen peroxide; isotretinoin 14 14 14 q32.33 84432866 84442144 - 104378625 104387903 - 103912288 103921566 - 1298632;6480464;8554872 9653160 11042152;12477932;15489334;16344560;16712791;17286855;21890473;24250222;24330338;24816145 9556 G3V556;P56378 ABBA01048397;ABBA01048398;ABBA01048399;AF054175;AF116639;AK309355;AK309499;AK310120;AK312099;AL132712;AMYH02029935;BC000429;BC001944;BC047289;BC063419;BX161388;CB127906;CH471061;DA526965;DQ426862;NM_001127393;NM_004894 AAC39909;AAF71062;AAH00429;AAH01944;BAG35035;CAD61878;EAW81849;EAW81850;EAW81851;EAW81852;NP_001120865;NP_004885;P56378 Hs.109052 1683659;1739807;2136695;2148098;2162277;5037552 D14S894E;D8S2279;G35411;G35502;RH75092;SHGC-36470 MP68;PLPM 6.8 kDa mitochondrial proteolipid;OTTHUMP00000246570;OTTHUMP00000246571;OTTHUMP00000246573;OTTHUMP00000246575 protein-coding ENSG00000156411 HGNC:1188 05199 604573 VALIDATED 1348871 C14orf26 chromosome 14 open reading frame 26 q21.1 8889549 400208 AA029430;AK125955 Hs.660501 2187138 STS-AA029430 protein-coding HGNC:19831 1316923 C14orf28 chromosome 14 open reading frame 28 INTERACTS WITH (-)-demecolcine; copper atom; copper(0) 14 14 14 q21.2 25227762 25237715 + 45366433 45376460 + 44897230 44907257 + 6480464 12477932;15489334;16341674;20874815;24250222 122525 G3V4G8;Q4W4Y0 ABBA01018043;AF250395;AK126985;AL049870;AMYH02029100;BC030258;BC105030;BC105032;BM849739;BU624091;CH471078;NM_001017923;XM_005267316 AAH30258;AAI05031;AAI05033;AAQ14261;EAW65796;NP_001017923;Q4W4Y0;XP_005267373 Hs.82098 1663550 G23875 DRIP-1;DRIP1;c14_5270 OTTHUMP00000244259;OTTHUMP00000244260;dopamine receptor interacting protein 1;dopamine receptor-interacting protein 1;hypothetical protein LOC122525;uncharacterized protein C14orf28 protein-coding ENSG00000179476 HGNC:19834 18544 VALIDATED 1351913 C14orf30 chromosome 14 open reading frame 30 161342 BG121773 HGNC:19838 1347411 C14orf40 chromosome 14 open reading frame 40 319109 BE348955 HGNC:19850 1344999 C14orf41 chromosome 14 open reading frame 41 q24.3 14702039 440187 AK055876;BG654811 Hs.525443 c14_5527 protein-coding HGNC:19851 1351933 C14orf37 chromosome 14 open reading frame 37 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH trichostatin A; valproic acid; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ortholog) 14 14 14 q23.1 38520760 38668792 - 58470808 58618847 - 58004090 58152239 - 6480464;8554872 12477932;15489334;20379614 145407 Q86TY3 ABBA01018244;ABBA01018245;ABBA01018246;ABBA01018247;AK292513;AK292605;AK294599;AL049838;AL121579;AMYH02029267;AMYH02029268;AMYH02029269;BC013707;BC062772;BC146861;BX161411;BX161448;BX649130;CH471061;NM_001001872;XM_006720051 AAH62772;AAI46862;BAF85202;BAF85294;BAG57786;CAD61887;CAD61913;EAW80712;EAW80713;NP_001001872;Q86TY3;XP_006720114 Hs.535420 1708742;1710144;1855619;2114481;2129958;2162539 G35522;RH44675;RH69498;SHGC-36423;SHGC-81560;SHGC-81588 c14_5376 OTTHUMP00000245308;hypothetical protein LOC145407;uncharacterized protein C14orf37 protein-coding HGNC:19846 10712 PREDICTED 1342722 C14orf42 chromosome 14 open reading frame 42 161380 BF109853 HGNC:19852 1346214 C14orf51 chromosome 14 open reading frame 51 338000 HGNC:20098 1350418 C14orf39 chromosome 14 open reading frame 39 INVOLVED IN multicellular organismal development (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenite(3-); trichostatin A; valproic acid 14 14 14 q23.1 40952829 41002917 - 60902674 60952764 - 60435956 60486046 - 6480464;8554872 12477932;14702039;15703187;23396134;23563607 317761 G3V257;G3V3U9;G3V493;H0YJQ0;Q8N1H7 ABBA01018281;ABBA01018282;AK098187;AL122057;AL132778;AL832219;AMYH02029295;BC125070;BC125071;CH471061;DB447488;EB388156;KF455903;NM_174978;XR_429313 AAI25071;BAC05253;EAW80780;EAW80781;NP_777638;Q8N1H7 Hs.335754 MGC149706;Six6os1 OTTHUMP00000179039;six6 opposite strand transcript 1 protein-coding ENSG00000179008 HGNC:19849 08504 VALIDATED 1344838 C14orf56 chromosome 14 open reading frame 56 q24.2 14702039 89919 AC004817;AC005476;AK024445;XM_001715980;XM_001716301;XM_001718387 BAB15735;Q9H7N3;XP_001716032;XP_001716353;XP_001718439 Hs.551210 1643818;1715777;2112920;2130197 D14S1418;G38302;G38312;RH119337 FLJ00035 protein-coding HGNC:20103 1348359 C14orf62 chromosome 14 open reading frame 62 317786 HGNC:20109 1343261 C14orf67 chromosome 14 open reading frame 67 196860 HGNC:20114 1354345 C14orf77 chromosome 14 open reading frame 77 145323 HGNC:20124 1353145 C14orf7 chromosome 14 open reading frame 7 378821 AI027773 HGNC:19284 1348818 C14orf57 chromosome 14 open reading frame 57 11483580 317787 CH471061 EAW81073;Q9H367 protein-coding HGNC:20104 1353513 C14orf81 chromosome 14 open reading frame 81 153514 HGNC:20128 1343204 C14orf60 chromosome 14 open reading frame 60 338001 HGNC:20107 1352699 C14orf88 chromosome 14 open reading frame 88 91813 HGNC:20135 1354469 C14orf91 chromosome 14 open reading frame 91 51217 AF113687 HGNC:20138 1352318 C14orf95 chromosome 14 open reading frame 95 338003 HGNC:20158 1322363 C14orf80 chromosome 14 open reading frame 80 INTERACTS WITH atrazine; copper(2+) sulfate; coumestrol 14 14 14 q32.33 86009230 86017442 + 105956192 105965585 + 105489855 105499248 + 6480464 12477932;14702039;18330356;20562859;21963094;22505724;24250222;25036637 283643 C9IYA4;C9J1F2;C9J317;C9J6B2;C9JZ80;C9K0G6;F8VP51;Q86SX3 ABBA01008881;AC243900;AK024506;AL928654;AW236560;BC016028;BX161477;BX248038;BX248074;BX248283;CH471061;NM_001134875;NM_001134876;NM_001134877;NM_001198983 AAH16028;ADZ15892;BAB15796;CAD61932;CAD62351;CAD62363;CAD62611;EAW81929;NP_001128347;NP_001128348;NP_001128349;NP_001185912;Q86SX3 Hs.720306 1661583;2144202;5022588 D5S1597E;RH48485;RH65096 MGC16771 OTTHUMP00000028466;OTTHUMP00000163912;OTTHUMP00000163913;OTTHUMP00000163914;OTTHUMP00000211269;OTTHUMP00000211271;OTTHUMP00000243774;OTTHUMP00000243775;hypothetical protein LOC283643;uncharacterized protein C14orf80 protein-coding ENSG00000185347 HGNC:20127 12658 VALIDATED 1316438 C14orf79 chromosome 14 open reading frame 79 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 14 14 14 q32.33 85506829 85516068 + 105452125 105466056 + 104985788 104999719 + 6480464 12477932;12508121;14702039;15489334;16112646;8619474;9110174 122616 F8VUA8;H0YHP6;J3KPM0;J3KRA4;Q96F83 ABBA01008850;AF038188;AK057249;AL512802;AMYH02029958;BC003539;BC011537;BC025175;BC137495;BC144671;CH471061;NM_174891;XM_005267317;XM_005267318 AAH03539;AAI37496;EAW81890;EAW81891;EAW81892;NP_777551;Q96F83;XP_005267374;XP_005267375 Hs.27183 1649982;1682850;1736422;5092954 A009C47;D14S683E;G32433;RH91739 OTTHUMP00000243899;OTTHUMP00000243900;hypothetical protein LOC122616;uncharacterized protein C14orf79 protein-coding HGNC:20126 12656 VALIDATED 1354202 C15orf13 chromosome 15 open reading frame 13 170479 HGNC:18112 1321239 C15orf26 chromosome 15 open reading frame 26 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH hydroquinone O-beta-D-glucopyranoside 15 15 15 q25.1 58364060 58378932 + 81391749 81441516 + 81127590 81149175 + 737633;6480464;8554872 12477932 14702039;15489334 161502 H0YM05;H0YNS7;Q6P656 ABBA01060635;AC036196;AC068870;AK095934;AK302120;AK307565;AMYH02030893;AMYH02030894;BC062471;CH471136;NM_173528;XM_006720408 AAH62471;BAC04653;BAG63498;EAW99102;EAW99103;EAW99104;NP_775799;Q6P656;XP_006720471 Hs.130979 FLJ38615 hypothetical protein LOC161502;uncharacterized protein C15orf26 protein-coding ENSG00000156206 HGNC:26782 08243 PREDICTED 1351050 C14orf99 chromosome 14 open reading frame 99 317730 1680220 RH67822 HGNC:20170 1348927 C14orf93 chromosome 14 open reading frame 93 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN extracellular region (inferred); INTERACTS WITH aflatoxin B1; hydrogen peroxide; valproic acid 14 14 14 q11.2 3319000 3342250 - 23456110 23479375 - 22986901 23010201 - 6480464 12477932;14702039;15146197;15489334;16344560;18029348;21693764;21832049;21890473;23704328 60686 G3V2P0;G3V2U2;G3V396;G3V3W0;G3V4F1;G3V4L9;G3V4W6;G5E9D9;J3KPV9;Q9H972 ABBA01061298;ABBA01061299;ABBA01061300;ABBA01061301;AK022216;AK023026;AL132780;AMYH02028858;AMYH02028859;AMYH02028860;AMYH02028861;AMYH02028862;AX880043;BC014299;BX161383;BX161417;BX161474;BX161507;CH471078;CN309429;DA818572;DA891690;NM_001130706;NM_001130708;NM_001282968;NM_001282969;NM_001282970;NM_021944;XM_005267971;XM_005267972;XM_005267973;XM_006720229;XM_006720230;XM_006720231;XM_006720232 AAH14299;BAB13988;BAB14363;CAD61874;CAD61892;CAD61930;CAD61946;CAE90777;EAW66196;EAW66197;EAW66198;EAW66199;EAW66200;EAW66201;EAW66202;EAW66203;NP_001124178;NP_001124180;NP_001269897;NP_001269898;NP_001269899;NP_068763;Q9H972;XP_005268028;XP_005268029;XP_005268030;XP_006720292;XP_006720293;XP_006720294;XP_006720295 Hs.255874 1672048;1728477;2117918 AFMB073ZC5;G63676;SHGC-31862 FLJ12154 OTTHUMP00000164561;OTTHUMP00000164562;OTTHUMP00000164563;OTTHUMP00000164564;OTTHUMP00000164565;OTTHUMP00000164566;OTTHUMP00000164567;hypothetical protein LOC60686;uncharacterized protein C14orf93 protein-coding ENSG00000100802 HGNC:20162 12662 VALIDATED 1351477 C15orf27 chromosome 15 open reading frame 27 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; dimethyl sulfoxide 15 15 15 q24.2 53278201 53423401 + 76352299 76497304 + 76059958 76204963 + 6480464;8554872 12477932;14702039;15342556;15489334;16344560;16572171;22020278;22082156 123591 H0YNC9;H3BM28;Q2M3C6 ABBA01060546;AC091100;AK054866;AK058126;AK095509;AK308676;AMYH02030822;AMYH02030823;AMYH02030824;AMYH02030825;AMYH02030826;AMYH02030827;BC104953;BC104955;BP369654;BQ009353;BX398159;CH471136;DA090797;DA483185;DR007145;KF456099;NM_152335;XM_005254160 AAI04954;AAI04956;BAB71676;BAC04562;BAG51435;EAW99224;EAW99225;NP_689548;Q2M3C6;XP_005254217 Hs.661411 1757883;1783176;1783220 SHGC-112468;SHGC-146755;SHGC-153295 FLJ30304;FLJ38190 OTTHUMP00000183577;transmembrane protein C15orf27 protein-coding ENSG00000169758 HGNC:26763 08235 VALIDATED 1606452 C15orf32 chromosome 15 open reading frame 32 15 15 15 q26.1 69426755 69456192 + 93014907 93044347 + 92471677 92501117 + 12477932;14702039;15489334;17903307;20386566;21529783 145858 Q32M92 ABBA01053091;AC090985;AK057393;AMYH02031071;BC109252;BC109253;CH471101;FJ515837;HC044857;KF495670;LN608581;LN608582;NM_001301106;NM_153040;XM_005254870 AAI09253;AAI09254;ACS13729;BAB71467;CBH30758;EAX02151;NP_001288035;NP_694585;Q32M92;XP_005254927 Hs.367879 1769670;5124182 G17849;RH98365 FLJ32831;MGC129836;MGC129837 OTTHUMP00000194775;hypothetical protein LOC145858;uncharacterized protein C15orf32 protein-coding ENSG00000183643 HGNC:26549 08143 VALIDATED 1353443 C15orf31 chromosome 15 open reading frame 31 8228263 L17330 HGNC:21692 5013871 C15orf38-AP3S2 C15orf38-AP3S2 readthrough This locus represents naturally occurring read-through transcription between the neighboring C15orf38 (chromosome 15 open reading frame 38) and AP3S2 (adaptor-related protein complex 3, sigma 2 subunit) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 15 15 q 90373831 90456222 - 89830599 89912990 - 6480464 20585627;20967262;21874001;21890473;21906983;21963094;21987572;22505724;23000965;23945395 100526783 H0YL85;H0YMK0;Q7Z6K5 ABBA01053027;ABBA01053028;ABBA01053029;ABBA01053030;ABBA01053031;AC018988;AC027176;AK000495;AMYH02031028;AMYH02031029;NM_001199058 NP_001185987 Hs.744890 1767579;2112970;2165051;2183352;5016851;5022200;5022578;5022651;5037552 D11S2921;D15S1443E;D1S1423;D8S2279;L18426;RH11326;RH80031;WI-15468;WI-20835 FLJ20488 C15orf38-AP3S2 fusion protein;OTTHUMP00000221441 APPROVED protein-coding HGNC:38824 VALIDATED 1607000 C15orf41 chromosome 15 open reading frame 41 This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] 15 15 15 q14 13631911 13862498 + 36871812 37102449 + 36579611 36810248 + 6480464;8699517;7240710;8554872 12477932;15489334;16344560;17207965;17353931;19913121;20301759;20628086;21906983;23716552 84529 H3BMD3;H3BNF9;H3BRH2;H3BS01;H3BTL3;Q9Y2V0 AA581466;ABBA01038496;ABBA01038497;AC007429;AC013640;AC019016;AC103988;AF114263;AK026504;AK315446;AL526474;AMYH02030197;AMYH02030198;AMYH02030199;AMYH02030200;BC006254;BC042750;BX647650;CH471125;DA467314;DA534917;NG_034055;NM_001130010;NM_001290232;NM_001290233;NM_032499;XM_005254719;XR_424597;XR_429512;XR_433079 AAD29606;AAH06254;ADQ32816;BAG37834;EAW92336;EAW92337;EAW92338;NP_001123482;NP_001277161;NP_001277162;NP_115888;Q9Y2V0;XP_005254776 Hs.48348 1339904;1663261;1751897;1753133;1772473;2141569;2141738;2171617;2219132 D15S1266;G17854;GATA50C03;HH114__6715;SGC38378;SHGC-105791;SHGC-109985;WI-13895;WI-18117 FLJ22851;HH114;MGC11326 hypothetical protein LOC84529;uncharacterized protein C15orf41 protein-coding ENSG00000186073 HGNC:26929 13650 615626;615631 REVIEWED 1602786 C15orf45 chromosome 15 open reading frame 45 q13.3 14702039 641318 Q96MF0 AK057017;NM_001035530 BAB71345;NP_001030607;Q96MF0 Hs.671908 FLJ32455 protein-coding HGNC:32364 1604333 C15orf39 chromosome 15 open reading frame 39 FOUND IN cytoplasm; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; copper atom 15 15 15 q24.2 52445013 52455302 + 75491219 75504510 + 75198887 75212169 + 6480464 11230166;12477932;14702039;15489334;15498874;16169070;16344560;19471022;21693764;21832049;21890473;21963094;21988832;22505724;23000965;8889548 56905 H3BMJ2;H3BN41;H3BRS2;H3BT66;Q6ZRI6 ABBA01060519;AC113208;AF063593;AF143881;AF495726;AK056589;AK057025;AK123746;AK125111;AK125604;AK128205;AL109730;AL117540;AL360143;AL834382;AMYH02030813;AX525186;BC000540;BC001762;BC006207;BC011379;BC011905;BC051235;BC069049;BC109195;BC110367;BM684714;CH471136;CR533482;DA720113;NM_015492;XM_005254551;XM_006720613 AAG43152;AAH01762;AAH11379;AAH11905;AAH51235;AAI09196;AAI10368;AAQ06680;BAC86215;BAC87324;BAG54145;CAB55985;CAB96089;CAD39045;CAD57047;CAG38513;EAW99272;EAW99273;NP_056307;Q6ZRI6;XP_005254608;XP_006720676 Hs.17936 2117893;2158936;2166562;2175460 D15S617E;HSC0NH062;RH45074;STS-T53273 DKFZp434H132;FLJ46337;MGC117209 OTTHUMP00000183481;hypothetical protein LOC56905;uncharacterized protein C15orf39 protein-coding ENSG00000167173 HGNC:24497 13154 VALIDATED 1606959 C15orf43 chromosome 15 open reading frame 43 15 15 15 q21.1 22140500 22163021 + 45248900 45271421 + 44956702 44979223 + 12477932;15489334;21832049 145645 H0YKV2;H0YNH3;Q8NHR7 ABBA01039190;AC090888;AMYH02030350;BC029537;CH471082;HC007150;NM_152448 AAH29537;ABM81909;ABM85084;CBH19380;EAW77283;NP_689661;Q8NHR7 Hs.567701 1732457 D15S517 MGC33951 OTTHUMP00000161938;hypothetical protein LOC145645;uncharacterized protein C15orf43 protein-coding ENSG00000167014 HGNC:28520 17528 VALIDATED 1604247 C15orf40 chromosome 15 open reading frame 40 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; valproic acid; 1,3-dinitrobenzene (ortholog) 15 15 15 q25.2 60906250 60928927 + 83657715 83681050 - 82988963 83012298 - 6480464;8554872 12477932;14702039;15146197;15489334;16368877;16751776;21139048;21890473;24250222;24816145;8889548 123207 H0Y996;H0Y9H8;H0YAC3;H3BM85;H3BMR1;H3BQZ5;Q8WUR7 AA905778;ABBA01029433;AC022558;AI239480;AJ705316;AK125586;AK311484;AK312160;AL602775;AMYH02030923;AW105048;BC019820;BE906569;BQ013375;BQ185982;BY800475;CH471188;CN347153;DC428269;DQ573071;DW416709;NM_001160113;NM_001160114;NM_001160115;NM_001160116;NM_144597;NR_027649;NR_027650;XM_006720385 AAH19820;BAG35094;EAW62431;EAW62432;NP_001153585;NP_001153586;NP_001153587;NP_001153588;NP_653198;Q8WUR7;XP_006720448 Hs.352541 1680793;1700694;2107375;2120780;2143588;5015961;5020948;5022322;5037552 D11S2560;D15S1477;D8S2279;G35510;MGC29937__7701;RH103970;RH41989;RH65049;STS-N36410 FLJ33606;MGC29937 OTTHUMP00000218276;UPF0235 protein C15orf40;hypothetical protein LOC123207 protein-coding ENSG00000169609 HGNC:28443 14538 VALIDATED 1601684 C15orf53 chromosome 15 open reading frame 53 ASSOCIATED WITH Melanoma (inferred) 15 15 15 q14 15755804 15759245 + 38988799 38992239 + 38696598 38700038 + 8554872 12477932;14702039;18711365;19488044;20351715;21926972 400359 Q8NAA6 ABBA01038476;AC104261;AK093014;AMYH02030218;BC119016;BC119810;CH471125;NM_207444 AAI19017;AAI19811;BAC04019;EAW92373;NP_997327;Q8NAA6 Hs.448785 FLJ35695;MGC148119 OTTHUMP00000160278;hypothetical protein LOC400359;uncharacterized protein C15orf53 protein-coding ENSG00000175779 HGNC:33796 13418 VALIDATED 1601683 C15orf54 chromosome 15 open reading frame 54 INTERACTS WITH cobalt dichloride 15 15 15 q14 16304366 16308529 + 39542885 39547048 + 39250684 39254847 + 6480464 12477932;14702039;21348951;23934736 400360 Q8N8G6 ABBA01038472;AC013652;AK096850;AMYH02030225;BC137300;BC137301;BC171789;BX647708;CH471125;NM_207445 AAI37301;AAI37302;AAI71789;BAC04876;EAW92378;NP_997328;Q8N8G6 Hs.376109 FLJ39531 OTTHUMP00000160280;putative uncharacterized protein C15orf54 protein-coding ENSG00000175746 HGNC:33797 13437 VALIDATED 1601736 C15orf48 chromosome 15 open reading frame 48 This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012] 15 15 15 q21.1 22614182 22617066 + 45722727 45725647 + 45430529 45433449 + 6480464 12209954;12477932;15489334;16434596;18636205;20877624;21988832;22464673 84419 H0YKW5;Q9C002 AA493534;AB026707;ABBA01039183;AC025580;AF228422;AK026298;AMYH02030357;BC021173;BM312626;CA865860;CH471082;CS300715;DB447060;NM_032413;NM_197955 AAH21173;AAK00708;ABM82120;ABM85294;BAB61021;CAK32379;EAW77312;EAW77313;NP_115789;NP_922946;Q9C002 Hs.112242 1651349 RH106 FLJ22645;FOAP-11;MGC32925;NMES1 OTTHUMP00000162117;normal mucosa of esophagus specific 1;normal mucosa of esophagus-specific gene 1 protein APPROVED protein-coding ENSG00000166920 HGNC:29898 16332 608409 REVIEWED 2289749 C15orf56 chromosome 15 open reading frame 56 15 15 15 q15.1 17308841 17311083 - 40542865 40545110 - 40250664 40252909 - 12477932;14702039 644809 H0YNI1;Q8N910 ABBA01038456;AC020658;AI300379;AK095915;AMYH02030234;BC061900;NG_033169;NM_001039905 BAC04647;NP_001034994;Q8N910 Hs.631718 1700574;1707852;2118217 RH103909;SHGC-56872;SHGC-82160 FLJ38596 putative uncharacterized protein C15orf56 protein-coding ENSG00000176753 HGNC:33868 VALIDATED 2302457 C15orf61 chromosome 15 open reading frame 61 FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; copper(2+) sulfate 15 15 15 q23 44701061 44707180 + 67813522 67819641 + 67521184 67527303 + 6480464 14702039;16572171;8889548 145853 A6NNL5;H0YN13 ABBA01038799;AC016355;AK294012;AMYH02030669;AY726587;BM664696;CH471082;CK903599;NM_001143936 A6NNL5;BAG57373;EAW77798;NP_001137408 Hs.438385 FLJ59587 hypothetical protein LOC145853;uncharacterized protein C15orf61 protein-coding HGNC:34453 VALIDATED 2299194 C15orf62 chromosome 15 open reading frame 62 ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 17beta-estradiol 15 15 15 q15.1 17830052 17832540 + 41062159 41064647 + 40769961 40772449 + 6480464;8554872 12477932;14702039;16344560;16572171;19913121;20628086;8889548 643338 A8K5M9 ABBA01038432;AC012476;AK291344;AMYH02030255;BC027487;BM706032;CN478592;DA761028;NM_001130448 A8K5M9;BAF84033;NP_001123920 Hs.631715 hypothetical protein LOC643338;uncharacterized protein C15orf62, mitochondrial;uncharacterized protein FLJ75552, mitochondrial protein-coding ENSG00000188277 HGNC:34489 VALIDATED 1605016 C15orf57 chromosome 15 open reading frame 57 INTERACTS WITH 2-methylcholine; cadmium atom; copper atom 15 15 15 q15.1 17611408 17625148 - 40824083 40857252 - 40531341 40565057 - 6480464 12477932;14702039;15342556;17207965;20016921;21044950 90416 H0YLI5;H0YLN5;H0YM19;H0YMC0;H0YN78;Q9BV29 ABBA01038445;ABBA01038446;AC091045;AK092214;AK098781;AK293079;AK312842;AL832032;AMYH02030243;BC001673;BC012189;BG709516;BP202606;BP289634;BQ878848;BU657334;BX404085;CD686743;CH471125;M79093;NM_001080791;NM_001080792;NM_001289132;NM_052849 AAH01673;ADQ32092;BAC03831;BAC05411;BAF85768;CAD89911;EAW92420;EAW92421;EAW92422;EAW92423;EAW92424;EAW92425;EAW92426;EAW92427;NP_001074260;NP_001074261;NP_001276061;NP_443081;Q9BV29 Hs.654661 1648644;1754569;1858499;2141851;2180257;5015619;5020948;5037552;5109281 2068;D11S3114;D1S1425;D8S2279;G35510;RH45958;SHGC-132857;SHGC-24371;WI-22288 CCDC32;FLJ25915;MGC20481 OTTHUMP00000160454;coiled-coil domain containing 32;uncharacterized protein C15orf57 protein-coding ENSG00000128891 HGNC:28295 14473 VALIDATED 2298735 C15orf59 chromosome 15 open reading frame 59 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH progesterone; silicon dioxide; indole-3-methanol (ortholog) 15 15 15 q24.1 50911962 50923642 - 74027772 74045495 - 73735431 73753153 - 6480464;8554872 12477932;21382349;23080069 388135 H0YKG6;Q2T9L4 ABBA01038707;AC022188;AK124841;AL360257;AMYH02030776;AMYH02030777;AMYH02030778;BC111368;NM_001039614;XM_005254369 AAI11369;NP_001034703;Q2T9L4;XP_005254426 Hs.213493;Hs.40794 1789110;2152964 G65689;WI-21596 MGC131524 UPF0583 protein C15orf59;hypothetical protein LOC388135 protein-coding ENSG00000205363 HGNC:33753 PREDICTED 1351577 C16orf12 chromosome 16 open reading frame 12 64491 HGNC:14140 1345370 C16orf10 chromosome 16 open reading frame 10 p13.3 64493 AW298011 protein-coding HGNC:14138 1344697 C16orf15 chromosome 16 open reading frame 15 64488 HGNC:14143 1602266 C15orf52 chromosome 15 open reading frame 52 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; copper(2+) sulfate 15 15 15 q15.1 17389636 17399151 - 40623653 40633168 - 40331452 40340967 - 6480464;8554872 12477932;16344560;24457600;8889548 388115 H0YK65;H0YM82;Q6ZUT6 ABBA01038453;AC013356;AK124643;AK125329;AK126035;AK126485;AMYH02030237;BC015670;BC140897;BC140902;BM716672;BQ690903;BU618720;CH471125;CR749408;DA106198;DA892533;NM_207380 AAI40898;AAI40903;BAC86132;BAC86405;CAH18251;EAW92404;EAW92405;NP_997263;Q6ZUT6 Hs.32433 2177066;2191445;5123933 MARC_23447-23448:1027106168:1;RH78611;WI-16206 DKFZp686N1468;FLJ43339 OTTHUMP00000198225;hypothetical protein LOC388115;uncharacterized protein C15orf52 protein-coding HGNC:33488 16964 VALIDATED 1353125 C16orf16 chromosome 16 open reading frame 16 64487 HGNC:14144 1347842 C16orf18 chromosome 16 open reading frame 18 64485 HGNC:14146 1353490 C16orf19 chromosome 16 open reading frame 19 64484 HGNC:14147 7245658 C15orf65 chromosome 15 open reading frame 65 INTERACTS WITH valproic acid; cadmium dichloride (ortholog); titanium dioxide (ortholog) 15 15 15 q21.3 32589318 32599479 + 55700723 55710910 + 55408525 55418712 + 6480464 145788 H3BRN8 ABBA01039025;AC013355;AK130862;AMYH02030486;AV735277;BX648577;CH471082;NM_001198784 EAW77489;H3BRN8;NP_001185713 Hs.97300 1688096;2184087 RH92020;WI-18393 uncharacterized protein C15orf65;uncharacterized protein LOC145788 protein-coding ENSG00000261652 HGNC:44654 VALIDATED 1345079 C16orf20 chromosome 16 open reading frame 20 64483 H3BMF2;H3BN60;H3BVG3 HGNC:14148 1351241 C16orf17 chromosome 16 open reading frame 17 64486 HGNC:14145 1353722 C16orf2 chromosome 16 open reading frame 2 749 HGNC:1196 1347623 C16orf21 chromosome 16 open reading frame 21 64482 HGNC:14149 1344022 C16orf27 chromosome 16 open reading frame 27 64740 HGNC:14155 1603944 C16orf13 chromosome 16 open reading frame 13 INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; dimethyl sulfoxide 16 16 16 p13.3 884563 886515 - 684429 686371 - 634427 636366 - 6480464 11157797;12477932;14702039;15342556;16341674;21139048;22939629 84326 H3BMF3;H3BNB2;H3BNT3;H3BQ55;H3BRT2;H3BS73;Q96S19 ABBA01030360;AE006464;AI146806;AK057077;AK294482;AK295628;AL022341;AMYH02031198;AW027232;BC007207;BC047118;BG612714;BI762987;BM827705;BP273946;BP276058;BQ921757;BU539308;BX104467;C00865;CH471112;CK904040;DB499720;NM_001040160;NM_001040161;NM_001040162;NM_001040165;NM_001288710;NM_032366;NR_109976;NR_109977;NR_109978;NR_109979;Z84479 AAH07207;AAH47118;AAK61238;BAB71362;BAG57706;BAG58505;EAW85784;EAW85785;EAW85786;EAW85787;EAW85788;EAW85789;NP_001035250;NP_001035251;NP_001035252;NP_001035255;NP_001275639;NP_115742;Q96S19 Hs.239500 JFP2;MGC13114 UPF0585 protein C16orf13;hypothetical protein LOC84326 protein-coding ENSG00000130731 HGNC:14141 17482 VALIDATED 1353914 C16orf43 chromosome 16 open reading frame 43 64720 HGNC:14176 1349511 C16orf29 chromosome 16 open reading frame 29 64738 HGNC:14157 1353054 C16orf31 chromosome 16 open reading frame 31 64736 HGNC:14159 1348125 C16orf28 chromosome 16 open reading frame 28 ENCODES a protein that exhibits ligase activity (inferred); zinc ion binding (inferred); INVOLVED IN protein ubiquitination (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred) p13.3 11157797;12477932;14702039;15489334;15616553;15761153;16344560;8889548 65259 AE006467;AK022685;AK027013;AL031709;AL031721;BC000150;BQ776895;CF136587;CH471112;DA558634;DA739764;NM_023076 AAH00150;AAK61278;BAB14178;BAB15626;EAW85662;EAW85663;EAW85664;NP_075564;Q9H9P5 Hs.598368;Hs.643536 FLJ23360 protein-coding HGNC:14156 08025 1345550 C16orf45 chromosome 16 open reading frame 45 INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 16 16 16 p13.11 15208794 15362586 + 15528325 15682116 + 15434468 15588259 + 6480464 10493829;12477932;14702039;15489334;16169070;17207965;21139048;21906983;24250222;24722188 89927 H3BP34;H3BR56;H3BRF6;H3BTT5;H3BU79;H3BUY6;Q96MC5 ABBA01048890;ABBA01048891;ABBA01048892;ABBA01048893;ABBA01048894;ABBA01048895;ABBA01048896;ABBA01048897;ABBA01048898;ABBA01048899;AC026401;AC140504;AC243733;AC243742;AI377644;AK057180;AK293431;BC008967;BC023603;CH471226;KC877585;KC877586;NM_001142469;NM_033201;U95740 AAC31663;AAH08967;AAH23603;ADQ32126;BAB71376;BAG56936;EAW53916;EAW53917;EAW53918;NP_001135941;NP_149978;Q96MC5 Hs.401798 1688064;1740523;2121873;2128277;2132061;2168279;2173473 D16S3177;D16S3345;RH41898;RH65283;SHGC-33692;SHGC-56757;STS-AA027340 FLJ32618 OTTHUMP00000160327;hypothetical protein LOC89927;uncharacterized protein C16orf45 protein-coding ENSG00000166780 HGNC:19213 12382 VALIDATED 1345260 C16orf46 chromosome 16 open reading frame 46 FOUND IN cytoplasm; nucleus; INTERACTS WITH (+)-catechin; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; methyl methanesulfonate 16 16 16 q23.2 65385500 65409274 - 81087102 81110872 - 81053497 81077267 - 6480464 12477932;14702039;16344560;18029348;18951430;20379614 123775 H3BQQ0;Q6P387 AA905107;ABBA01016985;AC092718;AK057264;AK295411;AMYH02032504;BC064143;CH471114;DA525473;NM_001100873;NM_152337;XM_005255791;XM_005255792 AAH64143;BAB71401;BAG58362;EAW95548;NP_001094343;NP_689550;Q6P387;XP_005255848;XP_005255849 Hs.658684 1668970;1723737;2141201;5093854 A009X43;G32963;RH118758;RH17564 FLJ32702 OTTHUMP00000174976;OTTHUMP00000174977;uncharacterized protein C16orf46 protein-coding ENSG00000166455 HGNC:26525 08730 VALIDATED 2302534 C16orf52 chromosome 16 open reading frame 52 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; calcitriol 16 16 16 p12.2 20798365 20875858 + 22019456 22095975 + 22008135 22087535 + 6480464;8554872 12477932;14702039;15489334;15616553 730094 H3BP60;H3BQB3;H3BS23;Q8NHV5 ABBA01003849;ABBA01003850;AC009019;AC092119;AC243828;AF086142;AK095585;BC027604;BC045557;BC053950;KC877596;NM_001164579;XR_429679 NP_001158051;Q8NHV5 Hs.498890 1680841;1685245;1698320;1858528;2147779;2151451;2174789;5092862 A009B15;G32377;RH102700;RH64983;RH65214;RH93574;SHGC-56785;WI-20621 MGC26782 hypothetical protein LOC730094;uncharacterized protein C16orf52 protein-coding ENSG00000185716 HGNC:27087 VALIDATED 1344443 C16orf47 chromosome 16 open reading frame 47 16 16 16 q22.3 57475779 57485718 - 73160536 73178346 - 73126638 73144447 - 14702039;19010793 388289 Q6ZP98 ABBA01016811;AC116667;AK129695;AMYH02032355;CH471166;LN608613;NM_207385 BAC85221;EAW59166;NP_997268;Q6ZP98 Hs.371893 1747867 G66805 putative uncharacterized protein C16orf47 protein-coding HGNC:28329 16623 VALIDATED 1353331 C16orf6 chromosome 16 open reading frame 6 26588 HGNC:1199 1605828 C16orf54 chromosome 16 open reading frame 54 FOUND IN integral component of membrane (inferred) 16 16 16 p11.2 73038911 73042469 + 29753784 29757340 - 29742463 29746019 - 10493829;11181995;12477932;12975309;14702039;15489334;16344560;22505724 283897 Q6UWD8 ABBA01013119;AC002301;AC009133;AC243914;AK093000;AY358833;BC025741;BC104466;BC104467;CH471238;DA427069;NM_175900 AAI04467;AAI04468;AAQ89192;BAC04015;EAW80012;NP_787096;Q6UWD8 Hs.331095 FLJ35681;MGC129957;MGC129958 OTTHUMP00000162996;transmembrane protein C16orf54 protein-coding ENSG00000185905 HGNC:26649 08183 VALIDATED 1601979 C16orf58 chromosome 16 open reading frame 58 This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013] 16 16 16 p11.2 28788683 28807579 + 31500796 31519740 - 31489475 31508419 - 6480464;8554872 12477932;14702039;15489334;16344560;19515790;19946888;21890473;21906983;23000965;8125298 64755 B4DJP2;H3BR29;H3BS97;H3BSM7;H3BTA0;I3L2V0;Q96GQ5 ABBA01042096;AC026471;AK000679;AK023930;AK092580;AK222913;AK296166;AK296491;AK304608;AL834462;AMYH02031852;BC000822;BC009308;BC054514;BC059952;CA448699;CH471192;DA742232;NG_033149;NM_022744 AAH00822;AAH09308;BAB14730;BAC03918;BAD96633;BAG58904;BAG59128;BAG65393;EAW52119;EAW52120;EAW52121;EAW52122;NP_073581;Q96GQ5 Hs.499102;Hs.9003 1679163;1679167;1683633;1693740;1761637;1849376 RH65072;RH69206;RH98795;SHGC-145625;SHGC-58809;SHGC-61098 FLJ13868;RUS OTTHUMP00000163300;UPF0420 protein C16orf58;hypothetical protein LOC64755 protein-coding ENSG00000140688 HGNC:25848 07839 VALIDATED 1604592 C16orf70 chromosome 16 open reading frame 70 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; cyclosporin A; formaldehyde 16 16 16 q22.1 51652166 51690685 + 67143801 67182442 + 67109899 67148539 + 6480464;8554872 10846156;12477932;14529721;14702039;15489334;16713569;19773279;19913121;20628086;21048031;21139048;21832049;22939629;24250222;9822620 80262 H3BRA5;H3BS58;H3BSG0;J3QRI8;Q9BSU1 ABBA01025429;ABBA01025430;ABBA01025431;AC074143;AF176088;AK022138;AMYH02032224;AMYH02032225;BC004556;CH471092;NM_025187;XM_005256177;XM_005256178;XM_006721284 AAH04556;AAK96888;ADZ15338;BAB13968;EAW83072;EAW83073;EAW83074;EAW83075;EAW83076;EAW83077;EAW83078;NP_079463;Q9BSU1;XP_005256234;XP_005256235;XP_006721347 Hs.513666 1672105;1682680;1738757;2146873;2162615;5015861;5037552;7185938 D10S16;D16S2584E;D16S2846;D8S2279;RH44529;RH70212;RH80598 C16orf6;FLJ12076;LIN10;lin-10 OTTHUMP00000174804;UPF0183 protein C16orf70;lin-10 homolog protein-coding ENSG00000125149 HGNC:29564 17460 PROVISIONAL 1604787 C16orf59 chromosome 16 open reading frame 59 INTERACTS WITH atrazine; calcitriol; copper atom 16 16 16 p13.3 2724490 2729339 + 2510115 2514964 + 2460102 2464963 + 6480464 12477932;14702039;16484223;21906983;23455924 80178 H3BND0;H3BPH1;H3BTF6;H3BU38;Q7L2K0 ABBA01030256;AC106820;AK023971;AK093788;AK128408;AK301929;AL559561;AMYH02031252;BC008882;BC018719;CH471112;CR457319;NM_025108;XM_006720955 AAH08882;AAH18719;ACE87026;ADZ15571;BAB14745;BAG63349;CAG33600;EAW85505;EAW85506;EAW85507;EAW85508;EAW85509;NP_079384;Q7L2K0;XP_006721018 Hs.534491 1655168;1677304 RH98649;SHGC-34827 FLJ13909 OTTHUMP00000159082;hypothetical protein LOC80178;uncharacterized protein C16orf59 protein-coding ENSG00000162062 HGNC:25849 07840 VALIDATED 1603979 C16orf62 chromosome 16 open reading frame 62 FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); calcitriol; cyclosporin A 16 16 16 p12.3 18716038 18861405 + 19566737 19712485 + 19555415 19701163 + 6480464 10493829;11230166;12477932;14702039;15342556;16344560;19913121;20379614;20532202;20628086;21139048;21890473;21906983 57020 C9J7I2;E7EWW0;F5H7K1;F6S1J4;G5E9I3;H0YFG6;H3BNX2;H3BRV8;H3BTI5;H3BUS7;H3BV68;H3BVG8;I3L1U5;Q7Z3J2 ABBA01028264;ABBA01028265;AC002550;AC012621;AF461052;AK024693;AK095078;AK290286;AK294885;AL136744;AL832159;AL833428;AMYH02031649;AMYH02031650;AMYH02031651;BC014900;BC050464;BC058845;BP219237;BX537867;CH471186;DA452318;DC322427;NM_001300743;NM_020314;XM_005255435;XM_005255436;XM_006721065 AAC05806;AAH14900;AAH50464;AAH58845;AAL67806;ACE86683;ACE87367;BAB14965;BAF82975;BAG52981;BAG57979;CAB66678;CAD97869;CAH10399;EAW50289;EAW50290;EAW50291;NP_001287672;NP_064710;Q7Z3J2;XP_005255492;XP_005255493;XP_006721128 Hs.654964 1647405;1673145;1681012;1738591;2148546;2152810;2157460;2159756;2174702;2177537;5015404;5022651 D11S2921;D16S2594E;D16S2745;L17705;RH65185;RH69435;SHGC-53577;SHGC-60519;SHGC-60588;SHGC-60595;SHGC-60633;STS-AA024457 DKFZp313M0539;DKFZp434B0212;FLJ21040;MGC16824 OTTHUMP00000237331;OTTHUMP00000237332;UPF0505 protein C16orf62;esophageal cancer associated protein;esophageal cancer-associated protein;hypothetical protein LOC57020 protein-coding ENSG00000103544 HGNC:24641 14455 VALIDATED 1606021 C16orf72 chromosome 16 open reading frame 72 INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; crocidolite asbestos 16 16 16 p13.2 9353303 9381316 + 9185537 9213555 + 9091680 9119698 + 6480464 12477932;14702039;19322201;23942779;24722188;8889548 29035 Q14CZ0;Q9UI82 ABBA01019742;AC087190;AK123266;AMYH02031418;BC029878;BC113570;BI831003;BM975140;CB959956;CH471112;NM_014117 AAI13571;ADR82920;EAW85189;NP_054836;Q14CZ0 Hs.221497 1666405;1677576;1700544;1700930;1738545;1774877;1775667;1846596;1856005;2166111;2168873;5022038 A005B05;C160rf72;D16S2718;RH103893;RH104092;RH69874;RH70039;SHGC-60747;SHGC-60749;SHGC-60790;SHGC-61077;WI-12288 FLJ41272;PRO0149 OTTHUMP00000160111;UPF0472 protein C16orf72;hypothetical protein LOC29035 protein-coding HGNC:30103 17910 VALIDATED 1606366 C16orf74 chromosome 16 open reading frame 74 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; amiodarone 16 16 16 q24.1 70044265 70087824 - 85741123 85784689 - 85707510 85751083 - 6480464 12107413;12477932;15489334;16189514;21203532 404550 Q96GX8;R4GMV5;R4GMY0;R4GN89;R4GNJ3 ABBA01034277;AC018695;AMYH02032597;AMYH02032598;AMYH02032599;AW072412;BC009078;CD674248;CH471114;CQ800176;CS502806;NM_206967;XM_006721191 CAG27584;CAM83960;EAW95441;EAW95442;NP_996850;Q96GX8;XP_006721254 Hs.461655 1852363 SHGC-60803 MGC17624 hypothetical protein LOC404550;uncharacterized protein C16orf74 protein-coding ENSG00000154102 HGNC:23362 14460 VALIDATED 1604523 C16orf71 chromosome 16 open reading frame 71 16 16 16 p13.3 4993069 5008177 + 4784289 4799397 + 4734288 4749396 + 12477932 146562 K7ENX3;K7EPW6;Q8IYS4 ABBA01026784;AC020663;AF447587;AK125251;AK301794;AMYH02031328;BC035024;BI458862;BX648126;CH471112;NM_139170;XM_005255144;XM_006720851 AAH35024;AAM22870;ACE86621;ACE87302;BAG54174;BAG63247;EAW85267;EAW85268;NP_631909;Q8IYS4;XP_005255201;XP_006720914 Hs.602738 2218684 ZNF500__4861 DKFZp686H2240;FLJ43261 OTTHUMP00000159855;hypothetical protein LOC146562;uncharacterized protein C16orf71 protein-coding ENSG00000166246 HGNC:25081 11238 VALIDATED 1606639 C16orf85 chromosome 16 open reading frame 85 q24.2 400555 AC116552;AK127438;NM_001001682 AAI48582;AAI53154;BAC86980;NP_001001682;Q6ZSH3 Hs.120392 1758345 SHGC-148099 FLJ45530 protein-coding HGNC:33799 13509 1605880 C16orf78 chromosome 16 open reading frame 78 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH copper(2+) sulfate 16 16 16 q12.1 33919770 33945283 + 49407808 49433321 + 49373897 49399410 + 6480464;8554872 12477932;17207965;21890473;22219177;23602568 123970 Q8WTQ4 ABBA01000894;AC007614;AMYH02031997;BC021181;BC021718;CH471092;HC006816;NM_144602 AAH21181;AAH21718;ADQ31886;CBH19214;EAW82734;NP_653203;Q8WTQ4 Hs.125875 1738617;1757133 D16S2759;SHGC-144568 MGC33367 OTTHUMP00000164196;hypothetical protein LOC123970;uncharacterized protein C16orf78 protein-coding ENSG00000166152 HGNC:28479 14560 PREDICTED 1602175 C16orf82 chromosome 16 open reading frame 82 ASSOCIATED WITH Melanoma (inferred) 16 16 16 p12.1 25854262 25856530 + 27078219 27080487 + 27066898 27069166 + 8554872 12477932;15489334 162083 Q7Z2V1 ABBA01017146;AC092725;AF536240;AI025812;AK311574;AMYH02031762;AW450252;BC031257;BC136370;BC136382;CH471145;HG507882;NM_001145545 AAH31257;AAI36371;AAI36383;AAP97728;EAW55761;NP_001139017;Q7Z2V1 Hs.120831 1697072 RH102017 FLJ18616;TNT OTTHUMP00000220950 protein-coding HGNC:30755 18211 VALIDATED 1604692 C16orf86 chromosome 16 open reading frame 86 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine 16 16 16 q22.1 52209207 52211151 + 67700662 67702661 + 67666793 67668758 + 8554872 12477932 388284 F8WFD6;Q6ZW13;R4GNF0 ABBA01025451;AC010530;AK123796;AMYH02032239;BC032064;BC041612;BC064498;BC082249;BC132878;BC132880;CA432406;CH471092;NM_001012984;XM_005255952 BAC85694;EAW83162;EAW83163;EAW83164;NP_001013002;Q6ZW13;XP_005256009 Hs.632208 OTTHUMP00000197746;hypothetical protein LOC388284;uncharacterized protein C16orf86 protein-coding ENSG00000159761 HGNC:33755 18380 VALIDATED 1604693 C16orf87 chromosome 16 open reading frame 87 INTERACTS WITH benzo[a]pyrene diol epoxide I; quercetin; trichostatin A 16 16 16 q11.2 31344142 31373247 - 46835959 46865074 - 46802047 46831162 - 6480464 12477932;17207965;19322201;23752268;24250222;24816145 388272 H3BQL3;Q6PH81 ABBA01013767;AC007225;AMYH02031968;BC056676;BX647945;CH471092;NM_001001436 AAH56676;ADQ32180;CAH56192;EAW82689;NP_001001436;Q6PH81 Hs.406551 1676966;2108431;5015861;5022578;5022651;7185938 D10S16;D11S2921;D1S1423;RH78494;RPL36AL_8599 MGC62018 OTTHUMP00000163360;UPF0547 protein C16orf87;hypothetical protein LOC388272 protein-coding ENSG00000155330 HGNC:33754 17370 PREDICTED 1602067 C16orf89 chromosome 16 open reading frame 89 This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 16 16 16 p13.3 5303508 5325498 - 5092925 5116146 - 5042967 5066145 - 6480464;8554872 12477932;12975309;15197164;16303743;19056867;20578903;21145461 146556 Q6UX73 ABBA01026798;AC026458;AK075242;AK300708;AMYH02031331;AMYH02031332;AY358483;BC033681;CF272639;CH471112;CQ783348;NG_030316;NM_001098514;NM_152459;XM_005255143 AAH33681;AAQ88847;BAC11494;BAG62387;CAF86554;EAW85242;EAW85243;EAW85244;NP_001091984;NP_689672;Q6UX73;XP_005255200 Hs.11782 1698816;2107385;2168594;5022578;5022651 D11S2921;D16S3329;D1S1423;MGC45438__7717;RH102972 MGC45438 OTTHUMP00000214789;OTTHUMP00000214790;OTTHUMP00000214791;UPF0764 protein C16orf89;hypothetical protein LOC146556 APPROVED protein-coding ENSG00000153446 HGNC:28687 11353 VALIDATED 2303333 C16orf90 chromosome 16 open reading frame 90 16 16 16 p13.3 3750264 3752201 - 3543484 3545758 - 3493484 3495758 - 646174 A8MZG2;H0Y3R3 ABBA01026740;AC004224;AMYH02031292;NM_001080524;XM_005255502 A8MZG2;NP_001073993;XP_005255559 Hs.632224 2177987 RH41812 OTTHUMP00000210840;OTTHUMP00000210841;hypothetical protein LOC646174;uncharacterized protein C16orf90 protein-coding ENSG00000215131 HGNC:34455 PREDICTED 2306470 C16orf92 chromosome 16 open reading frame 92 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred) 16 16 16 p11.2 72759701 72761069 - 30034655 30036023 + 30023334 30024702 + 8554872 12477932 146378 H3BMV0;H3BSP6;H3BVC3;Q96LL3 ABBA01013109;AC093512;AC243947;AK058133;BC101433;BC101434;BC101435;BC101436;BC127955;CH471238;NM_001109659;NM_001109660 AAI01434;AAI01435;AAI01436;AAI01437;AAI27956;BAB71678;EAW79941;NP_001103129;NP_001103130;Q96LL3 Hs.651588 1675614;5493551 RH78407;UniSTS:487197 FLJ25404;MGC125422 hypothetical protein LOC146378;uncharacterized protein C16orf92 protein-coding ENSG00000167194 HGNC:26346 PREDICTED 5132711 C16orf95 chromosome 16 open reading frame 95 16 16 16 q24.2 71633096 71647671 - 87336404 87351468 - 87302798 87317420 - 11076863;11181995;12477932;15489336;16344560;16381901;18487259 100506581 H3BNZ7;Q9H693 AB371437;ABBA01034327;AC010531;AK026130;AL136762;AMYH02032614;BC015536;BI460222;BU839368;CH471114;DA871621;NM_001195124;NM_001195125;NM_001256917 BAB15370;CAL37700;CAL37948;EAW95406;EAW95407;EAW95408;NP_001182053;NP_001182054;NP_001243846;Q9H693 Hs.729380 1677170 RH99238 DKFZp434J1815;FLJ22477 hypothetical protein LOC100506581;uncharacterized protein C16orf95 protein-coding ENSG00000260456 HGNC:40033 VALIDATED 1603940 C16orf93 chromosome 16 open reading frame 93 INTERACTS WITH methyl methanesulfonate 16 16 16 p11.2 29523901 29528691 + 30768733 30773598 - 30757423 30762277 - 6480464 12477932 90835 A1A4V9;F5H7A8;H0YGC5;H3BNW1;H3BTQ9 ABBA01042056;AC106886;AK307279;AL122109;AMYH02031829;BC042548;BC063391;BC073881;BC092491;BC128128;BC128129;BI829598;CH471192;NG_016616;NM_001014979;NM_001195620;XM_005255667;XM_005255668;XM_005255670;XM_006721100;XM_006721101;XM_006721102 A1A4V9;AAH92491;AAI28129;AAI28130;EAW52201;EAW52202;EAW52203;EAW52204;EAW52205;EAW52206;NP_001014979;NP_001182549;XP_005255724;XP_005255725;XP_005255727;XP_006721163;XP_006721164;XP_006721165 Hs.724010 1676350;1677718;1677848;1686246;1690656 RH65200;RH69119;RH79848;RH79900;RH92783 MGC104706 OTTHUMP00000237342;OTTHUMP00000237343;coiled-coil domain-containing protein C16orf93;hypothetical protein LOC90835 protein-coding ENSG00000196118 HGNC:28078 18705 VALIDATED 7205296 C16orf97 chromosome 16 open reading frame 97 16 16 16 q12.1 36575794 36623386 - 52060264 52107847 - 52026352 52073935 - 11181995 388276 H3BN30;H3BSQ4;I3L0Q7 ABBA01066468;ABBA01066469;AC009039;AMYH02032030;BX096212;CH471092;NM_001242473 EAW82782;H3BN30;NP_001229402 Hs.534669 hCG2045437;uncharacterized protein C16orf97;uncharacterized protein LOC388276 protein-coding ENSG00000261190 HGNC:44658 VALIDATED 1353497 C17orf10 chromosome 17 open reading frame 10 53396 HGNC:1201 1605551 C16orf91 chromosome 16 open reading frame 91 ASSOCIATED WITH Mucolipidosis III Gamma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cisplatin; zinc atom; zinc(0) 16 16 16 p13.3 1682542 1691944 - 1469745 1470801 - 1419744 1420800 - 6480464;8554872 11157797;12477932 283951 H3BP47;Q4G0I0 ABBA01030307;AE006467;AL032819;AMYH02031230;AW014549;BC023590;BC092497;BQ962326;CH471112;CS072388;NM_001272051 AAH92497;AAI40335;AAI46484;AAK61280;CAI93526;EAW85657;EAW85658;NP_001258980;Q4G0I0 Hs.58373 1768038 RH47026 CCSMST1;MGC104723;gs103 cattle cerebrum and skeletal muscle-specific protein 1 family member protein-coding ENSG00000174109 HGNC:27558 17332 VALIDATED 5487050 C16orf96 chromosome 16 open reading frame 96 16 16 16 p13.3 4815346 4859179 + 4606330 4650435 + 4556329 4600434 + 15616553;23251661 342346 A6NNT2 ABBA01026778;ABBA01026779;ABBA01026780;ABBA01026781;AC023830;AMYH02031325;AMYH02031326;NM_001145011;XM_005255298;XM_005255299;XM_005255300;XM_005255301 A6NNT2;NP_001138483;XP_005255355;XP_005255356;XP_005255357;XP_005255358 Hs.684212 1677354 RH41222 hypothetical protein LOC342346;putative uncharacterized protein C16orf96 protein-coding ENSG00000205832 HGNC:40031 PREDICTED 2299982 C17orf100 chromosome 17 open reading frame 100 INTERACTS WITH benzo[a]pyrene; cyclosporin A; hydrogen peroxide 17 17 17 p13.1 6576124 6577683 + 6555059 6556617 + 6651739 6653298 + 6480464 11181995;12477932 388327 A8MU93;D3DTM5 ABBA01054836;AC004706;AMYH02032876;BC028174;BC038956;BC052606;BC067087;BC082254;BX488537;CH471108;KF573667;LN608627;NM_001105520 A8MU93;EAW90297;EAW90298;NP_001098990 Hs.262480 2189517;2190225;2190227 ALOX15-A611G;ALOX15-F4-R4;G73120 OTTHUMP00000163267;hCG1985469;hypothetical protein LOC388327;uncharacterized protein C17orf100 protein-coding HGNC:34494 VALIDATED 1606635 C17orf102 chromosome 17 open reading frame 102 17 17 17 q12 29811365 29816611 - 32901142 32906388 - 34574123 34579369 - 12477932;14702039;15489334 400591 A2RUQ5 ABBA01011216;AC005691;AK126768;AMYH02033339;BC133004;BC136710;BC142651;NM_207454 A2RUQ5;AAI33005;AAI36711;AAI42652;BAC86680;NP_997337 Hs.514090 FLJ44815 OTTHUMP00000210918;hypothetical protein LOC400591;uncharacterized protein C17orf102 protein-coding ENSG00000197322 HGNC:34412 16975 VALIDATED 3458383 C17orf105 chromosome 17 open reading frame 105 INTERACTS WITH (+)-catechin; lead(0); lead(2+) 17 17 17 q21.31 38565804 38570055 + 41857803 41862054 + 43780435 43784686 + 6480464 12477932 284067 B2RV13;K7ER76 ABBA01028400;AC003098;AK125817;AMYH02033463;BC054872;BC070324;BC146971;HC007090;HC044751;NM_001136483 AAI46972;B2RV13;CBH19350;CBH30705;NP_001129955 Hs.252707 1733444;5015879;5037552 D17S1225;D8S2279;GDB:314949 FLJ43829 hypothetical protein LOC284067;uncharacterized protein C17orf105 protein-coding HGNC:37241 PREDICTED 1605246 C17orf104 chromosome 17 open reading frame 104 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,3',5-triiodo-L-thyronine; arsenite(3-); valproic acid 17 17 17 q21.31 39444254 39463671 + 42733762 42755673 + 44656394 44677368 + 6480464;8554872 12477932;14702039;8889549 284071 A2RUB1;C9J4A2;C9JC06;C9JYK8;K7EPA7 AA205120;ABBA01028356;ABBA01028357;ABBA01028358;AC091152;AK093167;AK097747;AK302001;AMYH02033491;AMYH02033492;AMYH02033493;BC035159;BC041481;BC132822;BC136642;CH471178;DB459438;DB460166;DV080633;NM_001145080;XM_005257236;XR_429882 A2RUB1;AAH35159;AAH41481;AAI32823;AAI36643;BAC04083;BAG63404;EAW51590;NP_001138552;XP_005257293 Hs.349758 1682187;5022578;5037552 D1S1423;D8S2279;RH98557 FLJ35848;FLJ40428;MGC43301 OTTHUMP00000202970;hypothetical protein LOC284071;uncharacterized protein C17orf104 APPROVED protein-coding ENSG00000180336 HGNC:26670 18768 VALIDATED 3051040 C17orf107 chromosome 17 open reading frame 107 ASSOCIATED WITH MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (inferred); Myasthenic Syndrome, Congenital, Fast-Channel (inferred); Myasthenic syndrome, congenital, postsynaptic slow-channel (inferred) 17 17 17 p13.2 4817829 4821108 + 4802948 4806227 + 4899653 4902932 + 8554872 100130311 E5RJ01;Q6ZR85 ABBA01054781;AC109333;AC233723;AK128415;AK308530;AK309386;AMYH02032836;AW014012;NG_008029;NM_001145536 BAC87429;NP_001139008;Q6ZR85 Hs.579243 1675505;2122387;2167048;5095183 CHRNE;RH76075;SHGC-11989;WI-19144 FLJ99427 OTTHUMP00000227680;hypothetical protein LOC100130311;uncharacterized protein C17orf107 protein-coding ENSG00000205710 HGNC:37238 VALIDATED 6483734 C17orf112 chromosome 17 open reading frame 112 17 17 51062879 51065012 + 52985519 52987652 + 100506650 F2Z3M2 ABBA01041273;AC102948;AI126620;AMYH02033633;BX103358;LN608653;NM_001243552;XM_005256919 F2Z3M2;NP_001230481;XP_005256976 Hs.146556 uncharacterized protein C17orf112;uncharacterized protein LOC100506650 protein-coding ENSG00000227011 HGNC:42963 VALIDATED 1348105 C17orf12 chromosome 17 open reading frame 12 p13.3 53394 AJ276252 Hs.684572 protein-coding HGNC:1203 1351090 C17orf14 chromosome 17 open reading frame 14 p13.3 53392 AJ276255 protein-coding HGNC:1205 1344830 C17orf11 chromosome 17 open reading frame 11 53395 AJ276251 protein-coding HGNC:1202 1347951 C17orf13 chromosome 17 open reading frame 13 p13.3 53393 AJ276253;BX119309;BX502008 Hs.659206 protein-coding HGNC:1204 1351954 C17orf16 chromosome 17 open reading frame 16 53390 HGNC:1207 1346325 C17orf17 chromosome 17 open reading frame 17 53389 HGNC:1208 1354402 C17orf19 chromosome 17 open reading frame 19 53387 HGNC:1210 1602729 C17orf2 chromosome 17 open reading frame 2 p13.3 10673334 8316 U53930 protein-coding HGNC:1213 1348490 C17orf15 chromosome 17 open reading frame 15 53391 HGNC:1206 1350625 C17orf20 chromosome 17 open reading frame 20 53386 HGNC:1214 1349410 C17orf18 chromosome 17 open reading frame 18 53388 HGNC:1209 1352014 C17orf4 chromosome 17 open reading frame 4 53402 HGNC:1218 1343641 C17orf21 chromosome 17 open reading frame 21 53385 HGNC:1215 1346844 C17orf22 chromosome 17 open reading frame 22 53384 HGNC:1216 1347909 C17orf33 chromosome 17 open reading frame 33 170794 HGNC:18227 1348577 C17orf5 chromosome 17 open reading frame 5 53401 HGNC:1219 1606738 C17orf49 chromosome 17 open reading frame 49 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN chromatin modification (inferred); FOUND IN MLL1 complex; NURF complex; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 17 17 17 p13.1 6943578 6946344 + 6918056 6920843 + 7014737 7017524 + 6480464 11181995;12477932;14702039;15146197;15489334;15960975;16712791;16964243;17207965;20516061;20850016;21139048;22623531;8889548 124944 F8W038;F8W1H0;K7ES76;Q8IXM2 ABBA01054845;AC040977;AI183273;AK055800;AK295795;AMYH02032882;BC040036;BM011108;BU596784;BU730728;CA449884;CB119197;CH471108;CN280697;NM_001142798;NM_001142799;NM_174893 AAH40036;ADQ33067;BAG58615;EAW90278;NP_001136270;NP_001136271;NP_777553;Q8IXM2 Hs.511801 5111633 RH81058 BAP18;MGC49942 BPTF associated protein of 18 kDa;BPTF-associated protein of 18 kDa;HEPIS;MLL1/MLL complex subunit C17orf49;OTTHUMP00000243066;OTTHUMP00000243067;OTTHUMP00000243068;OTTHUMP00000243069;OTTHUMP00000243070;OTTHUMP00000243071;chromatin complexes subunit BAP18;human embryo lung cellular protein interacting with SARS-CoV nsp-10 protein-coding ENSG00000258315 HGNC:28737 14662 VALIDATED 1605244 C17orf47 chromosome 17 open reading frame 47 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cadmium atom 17 17 17 q22 53080745 53083480 - 56618948 56621733 - 58541587 58544372 - 6480464;8554872 12477932;14702039;16344560;23666239 284083 Q8NEP4 ABBA01041340;AC005666;AK097440;AMYH02033690;BC022189;CH471109;DB073141;HC006818;NG_029570;NM_001038704 AAH22189;BAC05054;CBH19215;EAW94439;NP_001033793;Q8NEP4 Hs.646574 FLJ40121 hypothetical protein LOC284083;uncharacterized protein C17orf47 protein-coding ENSG00000181013 HGNC:26844 08269 VALIDATED 1602634 C17orf52 chromosome 17 open reading frame 52 q25.2 12477932 283994 BC038218 Hs.645372 protein-coding HGNC:27562 1603574 C17orf50 chromosome 17 open reading frame 50 17 17 17 q12 30998050 31002232 + 34087890 34092098 + 35760871 35765079 + 12477932;15489334;19913121;20628086 146853 Q8WW18 ABBA01011234;AC006237;AI004987;AMYH02033352;AY557347;BC021727;CH471147;DB452451;NM_145272;XM_005257921 AAI56775;AAS67921;EAW80130;NP_660315;Q8WW18;XP_005257978 Hs.127194 1697790 RH102419 hypothetical protein LOC146853;uncharacterized protein C17orf50 protein-coding ENSG00000270806 HGNC:29581 11239 VALIDATED 1601699 C17orf51 chromosome 17 open reading frame 51 17 17 17 p11.2 21101932 21124927 + 21343211 21454941 - 21439899 21551678 - 12477932;14702039;15489334;16625196;24250222 339263 A8MQB3;H0YGX3 ABBA01050469;AC068418;AC138710;AC233702;AK023039;AK056436;AK090937;AK096256;AK123143;BC010612;BC019938;BC040371;BC052777;BC053952;BC132738;BC136630;BX640850;NM_001113434;XM_005256621;XM_006721514;XR_243554 A8MQB3;AAI32739;AAI36631;BAG51708;NP_001106905;XP_005256678;XP_006721577 Hs.514016;Hs.745165 1676524;5127443 D17S687;RH64889 FLJ12977;FLJ31874;FLJ33618;FLJ38937;FLJ41148 OTTHUMP00000163730;hypothetical protein LOC339263;uncharacterized protein C17orf51 protein-coding ENSG00000212719 HGNC:27904 VALIDATED 1349752 C17orf6 chromosome 17 open reading frame 6 p13.3 53400 AJ272176;AJ276246 Hs.684568 miscrna HGNC:1220 1602101 C17orf53 chromosome 17 open reading frame 53 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; calcitriol; copper(2+) sulfate 17 17 17 q21.31 38927986 38948557 + 42219274 42239844 + 44141906 44162476 + 6480464;8554872 12477932;14702039;19079262;21963094;22504420;23455924;24163370 78995 Q8N3J3 ABBA01028385;AC004596;AK021656;AK291924;AL834295;AMYH02033470;AMYH02033471;BC000121;BI829278;CH471178;DC350778;NM_001171251;NM_024032;XM_006722073;XM_006722074;XM_006722075 AAH00121;ACE86869;ACE87557;ADZ15728;BAB13867;BAF84613;CAD38968;EAW51629;EAW51630;EAW51631;EAW51632;NP_001164722;NP_076937;Q8N3J3;XP_006722136;XP_006722137;XP_006722138 Hs.437059 2191327 MARC_17439-17440:1022701360:3 FLJ11594;MGC3130 hypothetical protein LOC78995;uncharacterized protein C17orf53 protein-coding ENSG00000125319 HGNC:28460 08825 VALIDATED 1603302 C17orf59 chromosome 17 open reading frame 59 INTERACTS WITH diazinon 17 17 17 p13.1 8119895 8121808 - 8091651 8093564 - 8188333 8190246 - 12477932;16344560;18330356 54785 Q96GS4;Q9P1D2 ABBA01054901;AC129492;AI174760;AK000021;AK222506;AMYH02032922;BC009261;BC018880;BC070272;CA423621;CH471108;DA199264;DR006664;NM_017622 AAH09261;AAH18880;AAH70272;BAA90889;BAD96226;EAW90080;NP_060092;Q96GS4 Hs.129563 5121043 SHGC-56821 FLJ20014;PRO2472 OTTHUMP00000204665;hypothetical protein LOC54785;uncharacterized protein C17orf59 protein-coding HGNC:25939 13368 VALIDATED 1603500 C17orf67 chromosome 17 open reading frame 67 FOUND IN extracellular region (inferred); INTERACTS WITH zinc atom; zinc(0) 17 17 17 q22 51330963 51354807 - 54869274 54911256 - 56791913 56833895 - 6480464 12477932;19266077 339210 Q0P5P2 ABBA01041303;ABBA01041304;ABBA01041305;ABBA01041306;AC106858;AMYH02033665;BC041467;BC093905;BC093907;BU075516;CA308560;CH471109;NM_001085430;XM_005257296;XM_006721861;XM_006721862 AAH93905;AAH93907;EAW94527;NP_001078899;Q0P5P2;XP_005257353;XP_006721924;XP_006721925 Hs.658949 hypothetical protein LOC339210;uncharacterized protein C17orf67 protein-coding ENSG00000214226 HGNC:27900 VALIDATED 1603589 C17orf64 chromosome 17 open reading frame 64 INTERACTS WITH cadmium atom; 2,2',5,5'-tetrachlorobiphenyl (ortholog); benzo[a]pyrene (ortholog) 17 17 17 q23.2 57600356 57609277 + 58498574 58508787 + 60421215 60431426 + 6480464 12477932 124773 K7EQ24;Q86WR6 ABBA01035408;AC037475;AMYH02033722;BC036356;BC048806;CD742737;CH471179;DB448877;NM_181707;XM_005257033;XM_005257034;XM_005257035;XM_005257036 AAH36356;AAH48806;EAW51405;NP_859058;Q86WR6;XP_005257090;XP_005257091;XP_005257092;XP_005257093 Hs.129312 1681698 RH98573 OTTHUMP00000211620;hypothetical protein LOC124773;uncharacterized protein C17orf64 protein-coding ENSG00000141371 HGNC:26990 14029 VALIDATED 1346268 C17orf7 chromosome 17 open reading frame 7 53399 HGNC:1221 1605250 C17orf58 chromosome 17 open reading frame 58 INTERACTS WITH quercetin; tunicamycin; furan (ortholog) 17 17 17 q24.2 62556881 62557883 - 65987217 65989765 - 67991099 67993649 - 6480464 12477932;15489334 284018 Q2M2W7 ABBA01028975;AC134407;AI126153;AK026583;AMYH02033859;BC021702;BC036760;BC105124;BC112073;BX364842;NM_181655;NM_181656 AAH36760;AAI05125;AAI12074;NP_858041;NP_858042;Q2M2W7 Hs.90790 1699056 RH103103 MGC138278 UPF0450 protein C17orf58;hypothetical protein LOC284018 protein-coding ENSG00000186665 HGNC:27568 14151 VALIDATED 1606782 C17orf62 chromosome 17 open reading frame 62 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 17 17 17 q25.3 76992212 77000132 - 80400462 80408707 - 82442586 82450831 - 6480464 12477932;12878157;14702039;15146197;15489334;16344560;17207965;18464913;20195357;21139048;21503106;8125298;8889548 79415 H0Y2X1;J3KS78;J3KSB6;J3KSJ5;J3KTF4;J3KTI1;J3QKS6;J3QKZ6;J3QLB7;J3QQQ4;J3QRG5;J3QRZ2;J3QS53;Q969P4;Q9BQA9 ABBA01019679;AC132938;AF269290;AK027743;AK054876;AK056342;AK074950;AK090484;AK092865;AK225389;AK309201;AMYH02034157;AU280357;BC003595;BC004171;BG338078;BG716477;BM147030;BM801484;BU734211;BX451530;CH471099;CN260096;DA008508;DA342707;DA436899;DA453235;DA500882;DA663677;DA716299;DA969007;DB113745;NM_001033046;NM_001100407;NM_001100408;NM_001193653;NM_001193654;NM_001193655;NM_001193657;NR_036514;NR_036516;NR_036517;NR_036518;NR_036519;XM_006722293 AAG23173;AAH03595;AAH04171;ADQ32838;BAB55335;BAB70818;BAB71156;BAC03465;EAW89776;EAW89777;EAW89778;EAW89779;EAW89780;EAW89781;EAW89782;EAW89783;EAW89784;EAW89785;EAW89786;EAW89787;EAW89788;EAW89789;EAW89790;NP_001028218;NP_001093877;NP_001093878;NP_001180582;NP_001180583;NP_001180584;NP_001180586;Q9BQA9;XP_006722356 Hs.163113 1696972;2179889;5014051;5015619;5022200;5037552;5091076 D11S3114;D8S2278;D8S2279;G06994;L18426;RH101958;RH70292 FLJ00406;FLJ90469;MGC4368 hypothetical protein LOC79415;uncharacterized protein C17orf62 protein-coding ENSG00000178927 HGNC:28672 14630 VALIDATED 1604593 C17orf70 chromosome 17 open reading frame 70 FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008] 17 17 17 q25.3 76151328 76163810 - 79506911 79519429 - 81539885 81552403 - 6480464;8554872 12477932;12973351;14702039;15146197;16116422;16344560;17396147;18029348;18285517;20347428;20347429;20360068;21832049;22705371;24910428;8125298 80233 A4ZI32;E7EVV8;F5GZS4;F5H095;F5H5G6;I3L2L9;J3KQD8;Q0VG06 ABBA01032153;AC137896;AC139149;AK024644;AK025828;AK054713;AK225370;AL834374;AMYH02034131;AMYH02034132;BC001724;BC008883;BC021968;BC117139;BC117141;BC143861;CH471099;CN366430;DA103390;DQ989324;NM_025161;NR_033338;XM_006722111;XM_006722112;XR_429925 AAH01724;AAH21968;AAI17140;AAI17142;ABK88282;ADZ16080;BAB14944;BAB15251;BAG51415;CAD39037;EAW89655;EAW89656;EAW89657;EAW89658;EAW89659;EAW89660;NP_079437;Q0VG06;XP_006722174;XP_006722175 Hs.313905 2187795;5014053 D1S3693;G69480 FAAP100;FLJ22175;FLJ30151 Fanconi anemia associated protein 100 kDa subunit;Fanconi anemia core complex 100 kDa subunit;Fanconi anemia-associated protein of 100 kDa;Fanconi anemia-associated protein, 100kDa;OTTHUMP00000236787 APPROVED protein-coding ENSG00000185504 HGNC:26171 07982 611301 VALIDATED 1604207 C17orf74 chromosome 17 open reading frame 74 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) 17 17 17 p13.1 7354821 7356773 + 7328851 7330887 + 7425616 7427568 + 8554872 12477932 201243 I3L1F6;Q0P670 ABBA01054865;AC113189;AMYH02032901;BC031286;BC044816;BC048010;CH471108;HC007082;NM_175734;XM_006721471 CBH19346;EAW90191;EAW90192;EAW90193;NP_783861;Q0P670;XP_006721534 Hs.380704 1690460 RH98448 hypothetical protein LOC201243;uncharacterized protein C17orf74 protein-coding ENSG00000184560 HGNC:27315 14128 VALIDATED 1603896 C17orf77 chromosome 17 open reading frame 77 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 17 17 17 q25.1 69173532 69182802 + 72581057 72590348 + 74584918 74594209 + 8554872 14702039 146723 E9PQI6;Q96MU5 ABBA01028836;AC079325;AK056444;AMYH02033978;CH471099;LN608657;NM_152460 AAI48445;AAI53034;EAW89172;NP_689673;Q96MU5 Hs.350775 5015861;5037552;7185938 D10S16;D8S2279 FLJ31882 OTTHUMP00000070876;hypothetical protein LOC146723;uncharacterized protein C17orf77 protein-coding HGNC:26480 08112 VALIDATED 1344979 C17orf8 chromosome 17 open reading frame 8 53398 HGNC:1222 1602416 C17orf78 chromosome 17 open reading frame 78 FOUND IN integral component of membrane (inferred) 17 17 17 q12 32555471 32572168 + 35732928 35749812 + 37376043 37392858 + 12477932;14702039;17207965;19913121;20628086;23535730 284099 Q8N4C9 ABBA01001373;AC068400;AC243654;AK096966;BC034672;CH471199;NG_023295;NM_173625;XM_005257239;XM_006725319 AAH34672;ADQ31592;BAC04914;EAW57585;EAW57586;NP_775896;Q8N4C9;XP_005257296;XP_006725382 Hs.439154 FLJ39647;MGC34759 hypothetical protein LOC284099;uncharacterized protein C17orf78 protein-coding ENSG00000278505 HGNC:26831 08262 VALIDATED 1602870 C17orf75 chromosome 17 open reading frame 75 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; paracetamol 17 17 17 q11.2 27568590 27579396 - 30655460 30677066 - 32328441 32350047 - 6480464 12477932;15342556;15489334;18029348;22797925;8619474;9110174 64149 J3KRR1;J3KT97;J3QKQ1;J3QRW7;J9JIC5;K7EII1;K7EIQ2;K7ERX0;Q9HAS0 AB062437;ABBA01000711;ABBA01000712;AC005899;AF052093;AF305686;AMYH02033315;BC026017;BC035715;BC047325;BC054035;BP308900;CA444740;CD706845;CH471147;NM_022344;XM_005258022;XM_005258023;XM_006722011 AAG23214;AAH26017;AAH35715;AAH47325;AAH54035;BAB93500;EAW80238;NP_071739;Q9HAS0;XP_005258079;XP_005258080;XP_006722074 Hs.655257 1649039;1857838;2138048;5014003;5014051;5014740;5015404;5015881;5015961;5016478;5016596;5020740;5022200;5022463;5022578;5022651;5024601;5037552;5109281 D11S2921;D15S1477;D17S1136;D17S1476E;D17S610;D1S1423;D1S1425;D3S1673;D8S2278;D8S2279;GDB:335751;GDB:434012;GDB:631802;L17705;L17809;L18426;RH18407;RH91950;SHGC-33551 NJMU-R1 spermatogenesis-related protein protein-coding ENSG00000108666 HGNC:30173 11392 VALIDATED 1601914 C17orf82 chromosome 17 open reading frame 82 INTERACTS WITH arsane; arsenic atom 17 17 17 q23.2 58590141 58591670 + 59489112 59490641 + 61411751 61413280 + 6480464 12477932;17207965;19893584;20383146;23263486;23455924;23563607;24250222 388407 Q86X59 ABBA01205205;AC005746;AMYH02033741;BC046200;CH471179;NM_203425 AAH46200;ADQ33068;EAW51427;NP_982249;Q86X59 Hs.434459 putative uncharacterized protein C17orf82 protein-coding ENSG00000187013 HGNC:32699 14202 PREDICTED 1602088 C17orf84 chromosome 17 open reading frame 84 84185 Q9H656 AK026247 BAB15410;Q9H656 Hs.684545 FLJ22594 protein-coding HGNC:26206 1353586 C17orf9 chromosome 17 open reading frame 9 53397 HGNC:1223 1626571 C17orf89 chromosome 17 open reading frame 89 FOUND IN mitochondrion (inferred); INTERACTS WITH valproic acid 17 17 17 q25.3 75843655 75845642 + 79213039 79215098 + 81239311 81241298 + 6480464 12477932;17287340 284184 A1L188;I3L4C8 AA534550;ABBA01032133;AC027601;AMYH02034122;BC079831;BC127837;CH471099;NM_001086521 A1L188;AAI27838;EAW89640;NP_001079990 Hs.356545 2155294 RH47021 hypothetical protein LOC284184;uncharacterized protein C17orf89 protein-coding ENSG00000224877 HGNC:33551 PREDICTED 1602883 C17orf80 chromosome 17 open reading frame 80 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; copper(2+) sulfate; dioxygen 17 17 17 q25.1 67811920 67828219 + 71228372 71245098 + 73232233 73248959 + 6480464;8554872 11076863;11230166;12477932;15489336;16381901;17213182;19056867;24250222;8889548 55028 B7Z7E5;I3L072;J3KT60;J3KTJ7;J3QLV1;Q9BSJ5 ABBA01028869;ABBA01028870;AC087301;AC097641;AK000728;AK027166;AK292838;AK301905;AL136740;AMYH02033959;AY163812;AY239293;BC005005;BG754800;BU736238;BU788930;CH471099;DC372573;DT220543;NM_001100621;NM_001100622;NM_001288770;NM_001288771;NM_017941;NR_110105;XM_005257487;XM_006721966 AAH05005;AAO25513;AAP72185;BAA91344;BAB15680;BAF85527;BAH13581;CAB66674;CAL38003;EAW89117;EAW89118;EAW89119;EAW89120;NP_001094091;NP_001094092;NP_001275699;NP_001275700;NP_060411;Q9BSJ5;XP_005257544;XP_006722029 Hs.12929 1739645;1848606;1849317;1849319;2137883 A006I05;D17S1722E;D17S602;G20831;RH36218 FLJ20721;HLC-8;MIG3;SPEP1 cell migration-inducing gene 3 protein;human lung cancer oncogene 8 protein;lung cancer-related protein 8;migration-inducing protein 3;sperm-expressed protein 1;uncharacterized protein C17orf80 protein-coding ENSG00000141219 HGNC:29601 17108 VALIDATED 1604808 C17orf85 chromosome 17 open reading frame 85 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine 17 17 17 p13.2 3726255 3761355 - 3710042 3749545 - 3802163 3846251 - 8554872 11412301;12477932;14702039;15342556;16344560;19471022;21145461;21693764;21832049;22365833;23602568;24457600;24816145;8125298;8889548 55421 K7ELP6;K7EQA5;Q53F19 ABBA01054747;ABBA01054748;AC005940;AC116914;AJ277841;AK056724;AK125048;AK223470;AMYH02032808;BC010707;BC011733;BM974475;BP344033;CH471108;CS185602;DA403386;DA815746;DA855232;HG508595;KC877633;KC877636;NM_001114118;XM_005256717;XM_006721556;XR_429819 AAH10707;AAI46420;AAI48857;BAD97190;BAG54129;CAB91001;CAJ42783;EAW90477;EAW90478;EAW90479;NP_001107590;Q53F19;XP_005256774;XP_006721619 Hs.120963 1740125;2109401;2144294;2149683;2173821;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;D9S1767;HSA277841__6597;STS-H93344;WI-11637;WI-22144 CTD-3195I5.1;ELG;FLJ32162;HSA277841 uncharacterized protein C17orf85 protein-coding HGNC:24612 17116 VALIDATED 1606638 C17orf97 chromosome 17 open reading frame 97 INTERACTS WITH 6-propyl-2-thiouracil (ortholog); methimazole (ortholog) 17 17 17 p13.3 361212 365198 + 260118 264457 + 410327 414666 + 6480464 12477932;23455924;24250222;24654937 400566 H7C5B9;I3L0T0;Q6ZQX7 ABBA01015238;AC141424;AK128660;AMYH02032717;BC057385;BC070116;BC141806;BG056786;NM_001013672 AAH57385;AAH70116;AAI41807;BAC87555;NP_001013694;Q6ZQX7 Hs.499607 1656015 RH12536 OTTHUMP00000216306;hypothetical protein LOC400566;uncharacterized protein C17orf97 protein-coding ENSG00000187624 HGNC:33800 18416 VALIDATED 2299176 C17orf96 chromosome 17 open reading frame 96 INVOLVED IN neuron fate commitment (inferred); INTERACTS WITH all-trans-retinoic acid; ethyl methanesulfonate; formaldehyde 17 17 17 q12 33488881 33492112 - 36827956 36831187 - 38671703 38674934 - 6480464 16625196;24550272 100170841 A6NHQ4 ABBA01031909;ABBA01031910;AC006449;AMYH02033359;CH471152;NM_001130677 A6NHQ4;EAW60520;NP_001124149 Hs.445574 1768569;2128589 RH48102;SGC31161 PRR28 OTTHUMP00000163180;Uncharacterized protein ENSP00000317905;hypothetical protein LOC100170841;proline rich 28;uncharacterized protein C17orf96 protein-coding ENSG00000273604 HGNC:34493 PREDICTED 2299180 C17orf98 chromosome 17 open reading frame 98 17 17 17 q12 33652304 33658595 - 36991341 36997642 - 38835088 38841389 - 16625196 388381 A8MV24 ABBA01031895;ABBA01031896;AC006449;AMYH02033366;AW182930;CH471152;DY654789;NM_001080465 A8MV24;EAW60538;NP_001073934 Hs.250182 1733352;2119964;2164499 D17S1181;D7S392;G38262 OTTHUMP00000163183;Uncharacterized protein LOC388381;hypothetical protein LOC388381;uncharacterized protein C17orf98 protein-coding ENSG00000275489 HGNC:34492 VALIDATED 2299182 C17orf99 chromosome 17 open reading frame 99 FOUND IN extracellular region (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 17 17 17 q25.3 72738832 72758765 + 76142434 76162364 + 78146353 78166283 + 6480464 11181995;12975309;15340161 100141515 K7EIQ9;K7ELL6;Q6UX52 ABBA01002942;ABBA01002943;AC021593;AK303128;AMYH02034048;AY358510;CH471099;NM_001163075;XM_005256911;XM_005256912 AAQ88874;BAG64234;EAW89498;NP_001156547;Q6UX52;XP_005256968;XP_005256969 Hs.633034 1694710;5015961;5109281 D15S1477;D1S1425;RH121932 FLJ50084;UNQ464 GLPG464;OTTHUMP00000204536;hypothetical protein LOC100141515;uncharacterized protein C17orf99 protein-coding ENSG00000187997 HGNC:34490 VALIDATED 1349999 C18orf12 chromosome 18 open reading frame 12 q21.1 84322 Q96KH6 AB027121 BAB47121;Q96KH6 Hs.334493 HEIL1;HsT2508 protein-coding HGNC:24918 1354365 C18orf23 chromosome 18 open reading frame 23 14702039 147341 AK091537;NM_152470 5493135 UniSTS:484412 HGNC:26612 1354305 C18orf15 chromosome 18 open reading frame 15 FOUND IN integral component of membrane (inferred) 18 18 p11.21 13121805 13122985 + 13229542 13230722 + 14702039 147276 Q96N68 AK055900;AP002505;CH471113;XR_040984;XR_040985 EAX01522;Q96N68 Hs.675872 1762767;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;SHGC-146549 HsT3231 ncrna HGNC:26447 1347622 C18orf21 chromosome 18 open reading frame 21 INTERACTS WITH disodium selenite; ethyl methanesulfonate; methyl methanesulfonate 18 18 18 q12.2 30360467 30367120 + 33552588 33559250 + 35972451 35979287 + 737633;6480464 12477932 14702039;15489334;16964243;21139048;21832049;22082156;24223155 83608 K7EM84;L7N2F3;Q32NC0;Q8TBS0;W4VSQ2 AA648431;ABBA01022435;AC091060;AF277182;AF277189;AMYH02034557;AMYH02034558;AW967900;AY631401;BC025950;BC108730;BC119765;BC119766;BX460890;CH471088;DN991579;NM_001201474;NM_001201475;NM_001201476;NM_031446;W84353;XM_005258364;XM_006722556 AAH25950;AAI08731;AAI19766;AAI19767;AAK07541;AAK07547;AAT51696;ABM83053;ABM86246;EAX01362;EAX01363;EAX01364;NP_001188403;NP_001188404;NP_001188405;NP_113634;Q32NC0;XP_005258421;XP_006722619 Hs.37883 1857457 RH45429 HsT3108;MGC131953;PNAS-124;PNAS-131;XTP13 HBV X-transactivated gene 13 protein;HBV X-transactivated protein 13;HBV XAg-transactivated protein 13;OTTHUMP00000158663;OTTHUMP00000163408;UPF0711 protein C18orf21;hypothetical protein LOC83608 protein-coding ENSG00000141428 HGNC:28802 12688 VALIDATED 1354418 C18orf41 chromosome 18 open reading frame 41 401894 XM_377496 HGNC:29311 1626518 C18orf33 chromosome 18 open reading frame 33 q22.3 14702039 100113406 AC015819;AK096231;XM_001714254;XM_001721238;XM_001721257 BAC04734;Q8N8S9;XP_001714306;XP_001721290;XP_001721309 Hs.638428 FLJ38912 protein-coding HGNC:31691 1626573 C18orf32 chromosome 18 open reading frame 32 ENCODES a protein that exhibits signal transducer activity; INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; signal transduction; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; coumestrol 18 18 18 q21.1 43863389 43868956 - 47007548 47013644 - 49481178 49487274 - 6480464 12477932;12761501;21139048;21890473;23000965;23864651;8889548 497661 Q8TCD1 AB097012;ABBA01018653;AC100778;AK027111;AK291882;AMYH02034695;BC022357;BC093004;BF210402;BF512018;BP395434;CB852935;NM_001035005;NM_001199346 AAH22357;AAH93004;ADR82680;BAC77365;BAF84571;NP_001030177;NP_001186275;Q8TCD1 Hs.603040 1660968;1730777;1852898;2126975 D18S103E;D18S1247;RH70037;SGC30182 FLJ23458 UPF0729 protein C18orf32;hypothetical protein LOC497661;putative NF-kappa-B-activating protein 200;putative NFkB activating protein protein-coding HGNC:31690 VALIDATED 1318467 C18orf25 chromosome 18 open reading frame 25 INTERACTS WITH (-)-demecolcine; arsenite(3-); copper(2+) sulfate 18 18 18 q21.1 40560969 40654391 + 43753519 43846955 + 46174022 46266992 + 737633;6480464 12477932 15385968;15489334;15722956;16189514;16344560;16524884;17081983;19240061;19322201;19471022;21139048;21693764;22863883;23455922;23602568;24216761;24816145 147339 K7EQH1;K7ER64;Q5BIX2;Q96B23 ABBA01022321;ABBA01022322;ABBA01022323;ABBA01022324;AC021763;AC118647;AI374757;AK289738;AK292981;AL713661;AL832027;AMYH02034656;AMYH02034657;BC016149;BC084579;BG497739;BK005125;BM561576;BU192741;BU663975;BX640683;CH471088;CS185648;DA818562;DB284444;KF573673;NM_001008239;NM_145055 AAH16149;AAH84579;BAF82427;BAF85670;CAD28470;CAD89920;CAE45812;CAJ42829;DAA05329;EAX01472;EAX01473;NP_001008240;NP_659492;Q96B23 Hs.116486 1342237;1686100;2123242;2150736 D18S1143;RH36388;RH91500;WI-14742 ARKL1;MGC12909;MGC87799;RNF111L1 ARKadia-like 1;hypothetical protein LOC147339;uncharacterized protein C18orf25 protein-coding ENSG00000152242 HGNC:28172 12690 VALIDATED 5131749 C18orf42 chromosome 18 open reading frame 42 18 18 18 p11.31 5028106 5081689 - 5143672 5197507 - 5143673 5197256 - 16344560 642597 J3KS16;P0CW23 ABBA01049876;AMYH02034241;AP001496;AP005380;NM_001145194 NP_001138666;P0CW23 Hs.437160 1682856;1734590;2159260 D18S943E;GDB:313337;RH91766 hypothetical protein LOC642597;putative uncharacterized protein C18orf42 protein-coding HGNC:28285 VALIDATED 1354422 C18orf57 chromosome 18 open reading frame 57 q22.3 54523 AL137361 Hs.98173 DKFZP434C0826 hypothetical protein LOC54523;uncharacterized protein LOC54523 protein-coding HGNC:25254 1603142 C18orf49 chromosome 18 open reading frame 49 q21.33 12477932 400653 AK000229;BC047606 Hs.699275 FLJ20222 protein-coding HGNC:25977 1348374 C18orf54 chromosome 18 open reading frame 54 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH calcitriol; dasatinib (anhydrous); ethyl methanesulfonate 18 18 18 q21.2 48740968 48764203 + 51884284 51908404 + 54357914 54382035 + 6480464;8554872 12477932;14702039;15146197;15489334;16189514;17207965;19322201;23455924;24250222 162681 I7GY12;I7HAS0;J3KRX3;J3KS56;Q8IYD9 AB267906;AB330143;AB330144;AB353076;AB353077;ABBA01018716;AC087395;AC093462;AK126503;AMYH02034757;BC036054;BC043651;BX640877;CH471096;CN359540;NM_001288980;NM_001288981;NM_001288982;NM_173529;NR_110234;XM_005258201;XM_005258202;XM_005258203 AAH36054;ADQ32333;BAC86570;BAM28642;BAM28643;BAM34476;BAM34477;BAM35939;CAE45934;EAW63006;NP_001275909;NP_001275910;NP_001275911;NP_775800;Q8IYD9;XP_005258258;XP_005258259;XP_005258260 Hs.208701 1662947;1691136;1701048 RH104151;RH45188;RH80534 LAS2;MGC33382 OTTHUMP00000163556;hypothetical protein LOC162681;hypothetical protein V1;hypothetical protein V3;hypothetical protein V4;hypothetical protein V5;lung adenoma susceptibility protein 2;uncharacterized protein C18orf54 protein-coding ENSG00000166845 HGNC:13796 11334 613258 VALIDATED 7207006 C18orf65 chromosome 18 open reading frame 65 18 18 18 q23 71024810 71027377 + 74207477 74210045 + 76495521 76498088 + 400658 Q6ZTR6 ABBA01015279;AC018413;AK126293;AMYH02035014;AMYH02035015;CH471117;HY337883;NG_032949;NM_001272093 BAC86516;EAW66580;NP_001259022 Hs.451549 uncharacterized protein LOC400658 APPROVED protein-coding ENSG00000275763 HGNC:51248 13489 VALIDATED 1345723 C18orf58 chromosome 18 open reading frame 58 p11.22 14702039 284222 AK092226;AP005117;AP005120;NM_173817 BAC03832;NP_776178;Q8NAR6 Hs.436902 FLJ34907 protein-coding HGNC:26631 1349119 C18orf61 uncharacterized LOC497259 18 18 p11.22 12200778 12224710 + 12200779 12224711 + 497259 AA393962;AA776829;ABBA01074011;AI125564;AI202918;AI683092;AMYH02034325;AP005264;HG509776;NR_049896 Hs.451609;Hs.541137 RP11-64C12.4 chromosome 18 open reading frame 61 APPROVED ncrna HGNC:26362 PREDICTED 1345552 C19orf10 chromosome 19 open reading frame 10 The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 4594232 4607089 - 4657557 4670415 - 4657545 4670403 - 6480464 12077275;12477932;14641539;15057824;15489334;16169070;16713569;17362502;21128247;21139048;21906983;22304920;24583282 56005 M0QXF7;M0QYN0;Q969H8 ABBA01056051;ABBA01056052;AC005339;AC005594;AF282264;AK098829;AL365373;AL365374;AMYH02035298;BC003639;BC010129;BC014655;BG484758;CH471139;NM_019107 AAC27824;AAC33800;AAH03639;AAH10129;AAH14655;CAB96947;CAB96948;EAW69202;EAW69203;NP_061980;Q969H8 Hs.465645 1658231 RH16158 EUROIMAGE1875335;IL25;IL27;IL27w;R33729_1;SF20 UPF0556 protein C19orf10;hypothetical protein LOC56005;interleukin 25;interleukin 27 working designation;interleukin-25;stromal cell-derived growth factor;stromal cell-derived growth factor SF20 APPROVED protein-coding ENSG00000074842 HGNC:16948 08415 606746 VALIDATED 1319491 C19orf12 chromosome 19 open reading frame 12 This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 19 19 19 q12 26887993 26904652 - 30189793 30206696 - 29698886 29715789 - 737633;6480464;8699517;8554872;7240710 12477932 14702039;16344560;20098747;20301334;20301682;21832049;21981780;22584950;22691760;22704260;23166001;23269600;23447832;23494994;23857908;24209434;24575447;24586779;24636776 83636 F8W6J3;K7EPS8;Q9NSK7 ABBA01039545;ABBA01039546;ABBA01039547;AC010513;AC010644;AK057185;AL162066;AMYH02035878;BC004957;BC009946;BC017211;BC063518;BG720088;BG722048;BI753584;DA064969;DA189248;DA348401;DA708831;DB541407;KF456537;NG_031970;NM_001031726;NM_001256046;NM_001256047;NM_001282929;NM_001282930;NM_001282931;NM_031448 AAH04957;AAH09946;AAH17211;AAH63518;BAG51878;CAB82403;NP_001026896;NP_001242975;NP_001242976;NP_001269858;NP_001269859;NP_001269860;NP_113636;Q9NSK7 Hs.529094 1666497;1685656;1689257;1778111;1853830;2116023;2134479;5015619;5022200;5037552 D11S3114;D19S1092;D8S2279;L18426;RH65212;RH65823;RH65947;RH76650;SGC34217;STS-N21279 DKFZp762D096;MGC10922;NBIA3;NBIA4;SPG43 OTTHUMP00000194763;OTTHUMP00000194765;hypothetical protein LOC83636;neurodegeneration with brain iron accumulation 3;neurodegeneration with brain iron accumulation 4;spastic paraplegia 43 (autosomal recessive);uncharacterized protein C19orf12 APPROVED protein-coding ENSG00000131943 HGNC:25443 12696 614297;614298;615043 VALIDATED 5132403 C18orf63 chromosome 18 open reading frame 63 18 18 18 q22.3 68850455 68893768 + 71983110 72026422 + 74315829 74359187 + 644041 Q68DL7 ABBA01056325;AC008021;AC090398;AMYH02034992;CR749350;HC006926;NM_001174123;XM_006722524 CAH18203;CBH19268;NP_001167594;Q68DL7;XP_006722587 Hs.465414 1763713 SHGC-147382 DKFZP781G0119 hypothetical protein LOC644041;uncharacterized protein C18orf63 protein-coding ENSG00000206043 HGNC:40037 PREDICTED 1342903 C19orf18 chromosome 19 open reading frame 18 FOUND IN extracellular vesicular exosome; INTERACTS WITH copper(2+) sulfate; quercetin 19 19 19 q13.43 55513281 55529383 - 58469805 58485902 - 57958437 57974534 - 737633;6480464 12477932 15489334;19056867;21832049;23251661 147685 Q8NEA5 ABBA01020789;AC010326;AMYH02036523;AMYH02036524;BC033933;CH471135;NM_152474 AAH33933;EAW72545;NP_689687;Q8NEA5 Hs.134209 MGC41906 hypothetical protein LOC147685;uncharacterized protein C19orf18 protein-coding ENSG00000177025 HGNC:28642 12699 PREDICTED 1346714 C19orf24 chromosome 19 open reading frame 24 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular region; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; paracetamol 19 19 19 p13.3 1209752 1213531 + 1275520 1279243 + 1275521 1279244 + 737633;6480464;8554872 12477932 14702039;15489334;16847563;8125298;8889548 55009 D6W5Y7;Q9BVV8 ABBA01002636;AC004258;AK000647;AK096105;AK225502;AMYH02035145;BC000890;BC012080;BG333480;BM675280;BX402818;CH471139;NM_017914 AAH00890;BAA91305;EAW69518;EAW69519;NP_060384;Q9BVV8 Hs.591383 1853080;2150989 A008K10;WI-17337 FLJ20640 OTTHUMP00000204659;OTTHUMP00000204660;hypothetical protein LOC55009;uncharacterized membrane protein C19orf24 protein-coding ENSG00000228300 HGNC:26073 12702 VALIDATED 1348009 C19orf31 chromosome 19 open reading frame 31 p13.3 14702039 404664 Q8N1I2 AC027319;AK098038;NM_001014373 BAC05219;NP_001014395;Q8N1I2 Hs.620488 FLJ40719 protein-coding HGNC:17573 1323450 C18orf8 chromosome 18 open reading frame 8 This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013] 18 18 18 q11.2 17899440 17927737 + 21083434 21113311 + 23503470 23531807 + 737633;6480464;8554872 12477932 14702039;15489334;17081983;17897319;20562859;21139048;22939629;23022380 29919 B7Z201;B7Z2Y1;B7Z3Q1;K7EIS6;K7EKN1;K7EL80;K7ENL9;K7EQ65;K7EQJ3;Q96DM3 ABBA01022632;AC010853;AC026634;AF143536;AK027106;AK057192;AK294169;AK295246;AK296230;AMYH02034416;AMYH02034417;BC002950;BC008305;CH471088;CN481504;NG_033119;NM_001276342;NM_013326;NR_075075;NR_075076;XM_006722445 AAD33909;AAH02950;AAH08305;BAB71377;BAH11687;BAH12017;BAH12287;EAX01155;EAX01156;EAX01157;NP_001263271;NP_037458;Q96DM3;XP_006722508 Hs.464779 1692998;1699642;1730145;2148313;2167999;2171440;5018027 AL034225;D18S75E;NPC1_s22;RH103425;RH48826;RH67909;WI-14881 FLJ23453;HsT2591;MIC1;Mic-1 colon cancer associated protein Mic1;colon cancer-associated protein Mic1;macrophage inhibitory cytokine 1;uncharacterized protein C18orf8 protein-coding ENSG00000141452 HGNC:24326 12693 VALIDATED 1352315 C19orf25 chromosome 19 open reading frame 25 INTERACTS WITH methyl methanesulfonate; quercetin; valproic acid 19 19 19 p13.3 1407199 1413220 - 1473200 1479555 - 1473201 1479556 - 6480464 12477932;14702039;15342556;15489334;15824131;16189514;16303743;17207965;19913121;20360068;20628086;22939629;24816145;8619474;9110174 148223 E7EP72;K7EK56;K7ELZ1;K7EQW1;K7ER12;Q9UFG5 ABBA01002646;AC027307;AK075267;AK093985;AK297944;AL122089;AMYH02035152;AY007120;BC018441;BP210473;CH471139;CQ783391;NM_152482;XM_005259505;XM_005259506;XM_006722653 AAH18441;ADQ32390;BAC04262;BAG52098;BAG60260;CAB59260;CAF86596;EAW69495;NP_689695;Q9UFG5;XP_005259562;XP_005259563;XP_006722716 Hs.532840 1688400;1739943;2116335;2154576;5123943 D2S2123;RH15927;RH39051;STS-N99984;WI-14332 FLJ36666 UPF0449 protein C19orf25;hypothetical protein LOC148223 protein-coding ENSG00000119559 HGNC:26711 12703 VALIDATED 1316225 C19orf26 chromosome 19 open reading frame 26 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p13.3 1164180 1172223 - 1228059 1237990 - 1228060 1237991 - 737633;6480464 12477932 15057824;15489334;16341674;17081983;17207965 255057 K7EIS9;K7EJP2;K7ELJ5;Q8N350 ABBA01002632;ABBA01002633;ABBA01002634;ABBA01002635;ABBA01002636;AC004221;AMYH02035143;AMYH02035144;AMYH02035145;AW163263;BC028156;BM263341;BM743507;BX094586;CH471139;CK824551;NM_152769;XM_005259528;XM_006722714;XM_006722715;XM_006722716;XR_430134 AAC04305;AAH28156;ADQ31791;EAW69535;EAW69536;EAW69537;NP_689982;Q8N350;XP_005259585;XP_006722777;XP_006722778;XP_006722779 Hs.346575 1681596;2219926 MIDN__6314;RH80863 DOS;MGC40084 downstream of Stk11 protein-coding HGNC:28617 16627 VALIDATED 1354281 C19orf33 chromosome 19 open reading frame 33 FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; copper(2+) sulfate 19 19 19 q13.2 35597040 35597882 + 38794804 38795646 + 38304164 38305006 + 6480464 11080599;11606055;12477932;14981917;15489334;16189703;17081983;17309599;18507030;20432246;21832049;22886722 64073 Q9GZP8 AB038317;AB038318;ABBA01040678;AC011479;AF213678;AF325216;AMYH02036066;BC008888;BC014264;BC060319;CH471126;NM_033520 AAG43574;AAH14264;AAH60319;AAK01421;BAB18465;BAB18466;EAW56769;EAW56770;NP_277055;Q9GZP8 Hs.631544 1685772 RH94089 H2RSP;IMUP;IMUP-1;IMUP-2;MGC39135;MGC75180 HAI-2 related small protein;HAI-2-related small protein;hepatocyte growth factor activator inhibitor type 2-related small protein;immortalization up-regulated protein;immortalization-upregulated protein protein-coding ENSG00000167644 HGNC:16668 12706 PROVISIONAL 2302125 C19orf38 chromosome 19 open reading frame 38 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chloroprene (ortholog) 19 19 19 p13.2 10853950 10875203 + 10947304 10980466 + 10836651 10869790 + 6480464;8554872 12477932;15057824 255809 A8MVS5 ABBA01029889;ABBA01029890;ABBA01029891;ABBA01029892;ABBA01029893;AC007229;AC007565;AMYH02035506;AMYH02035507;AMYH02035508;AMYH02035509;BC157863;CH471106;KF456498;NM_001136482;XM_005259846;XM_005259847;XM_006722717 A8MVS5;AAI57864;EAW84154;NP_001129954;XP_005259903;XP_005259904;XP_006722780 Hs.440535 HIDE1 Highly expressed in immature dendritic cell transcript 1 protein-coding ENSG00000214212 HGNC:34073 PROVISIONAL 1352021 C19orf35 chromosome 19 open reading frame 35 19 19 19 p13.3 2208806 2216106 - 2274631 2282181 - 2274632 2282182 - 12477932;14702039;21998595 374872 Q6ZS72 ABBA01002716;ABBA01002717;AC004152;AK127680;AMYH02035187;AMYH02035188;AMYH02035189;BC107678;CH471139;NM_198532 BAC87082;EAW69392;NP_940934;Q6ZS72 Hs.511803 5014051;5015619;5037552 D11S3114;D8S2278;D8S2279 FLJ45778 putative uncharacterized protein C19orf35 protein-coding ENSG00000188305 HGNC:24793 12707 VALIDATED 1602810 C19orf45 chromosome 19 open reading frame 45 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cadmium dichloride (ortholog); furan (ortholog) 19 19 19 p13.2 7434951 7445845 + 7562445 7573336 + 7497559 7508450 + 6480464;8554872 12477932;14702039;16344560;24250222 374877 M0QY34;M0QYK1;M0R096;M0R0L7;Q8NA69 ABBA01010901;AC008878;AK093103;AK301623;AMYH02035398;BC029824;BC034779;DB037908;NM_198534;XM_005272473;XM_006722746;XM_006722747;XR_430139 AAH29824;AAH34779;BAC04057;BAG63108;NP_940936;Q8NA69;XP_005272530;XP_006722809;XP_006722810 Hs.631862 1701444;1760703;2220242 AB070080;RH104354;SHGC-144236 FLJ35784;FLJ56642 OTTHUMP00000211650;hypothetical protein LOC374877;uncharacterized protein C19orf45 protein-coding ENSG00000198723 HGNC:24745 13420 VALIDATED 1602089 C19orf44 chromosome 19 open reading frame 44 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cadmium dichloride (ortholog) 19 19 19 p13.11 16509042 16534003 + 16607187 16632180 + 16496311 16521369 + 6480464;8554872 12477932;16196087;16344560;21738480;21900206;8125298 84167 M0QXR9;M0QYD0;M0QZ23;M0R141;M0R1E2;M0R2B3;Q9H6X5 ABBA01051148;ABBA01051149;AC008764;AK025395;AK026145;AK225118;AK225678;AK297781;AK311324;AMYH02035684;BC027869;CH471106;DA491717;NG_031959;NM_001288834;NM_032207;XM_006722920;XM_006722921 AAH27869;ADZ15432;BAB15125;BAG60125;EAW84547;EAW84548;NP_001275763;NP_115583;Q9H6X5;XP_006722983;XP_006722984 Hs.631627 1655567;1666730;1722419;1770250;2109135;2132389;2132914;2132916;5022651 1980;A001Y07;CHERP_9130;D11S2921;D19S680E;G19773;G60283;RH16018;RH47535 FLJ21742;FLJ22492 hypothetical protein LOC84167;uncharacterized protein C19orf44 protein-coding ENSG00000105072 HGNC:26141 08641 VALIDATED 1605898 C19orf40 chromosome 19 open reading frame 40 FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008] 19 19 19 q13.11 30156740 30161565 + 33463140 33468401 + 32972234 32977495 + 6480464 12477932;15489334;16344560;17207965;17289582;18029348;18174376;18206976;18285517;18995830;20064461;20347428;20347429;20670894;21832049;22705371;23333308;23741361;23932590;23999858;24003026 91442 K7EKQ4;Q9BTP7;X6R368 ABBA01039606;AC011449;AK128668;AMYH02035930;BC003535;BC010170;BC020247;BM679170;BX390218;CD690094;CN368337;DA006539;NM_001300978;NM_152266;XM_005259393;XM_005259394 AAH03535;AAH10170;AAH20247;ADQ32151;BAG54708;NP_001287907;NP_689479;Q9BTP7;XP_005259450;XP_005259451 Hs.579899 5022322;5022463 D11S2560;D3S1673 FAAP24;FLJ46828;MGC32020 Fanconi anemia-associated protein of 24 kDa;Fanconi anemia-associated protein, 24 kDa APPROVED protein-coding HGNC:28467 14547 610884 VALIDATED 1605904 C19orf49 chromosome 19 open reading frame 49 q13.2 12477932 90198 Q86XP5 AC011497;AF497566;AK026018;BC093649;BC111942;BF941059;CB122799;NM_178121 AAH93649;AAI11943;AAO85531;NP_835222;Q86XP5 Hs.558582 FLJ22365;MGC138147;SBP1 protein-coding HGNC:24901 18019 1604305 C19orf43 chromosome 19 open reading frame 43 INTERACTS WITH (-)-demecolcine; diazinon; vincristine 19 19 19 p13.2 12731165 12735240 - 12841454 12845529 - 12730640 12734715 - 6480464 12477932;14702039;15489334;16189514;17332742;21832049;21890473;21906983;22365833;22939629;24657165;24816145 79002 K7ELS0;K7EN60;K7ERU7;Q9BQ61 ABBA01029777;AC018761;AF061732;AK027588;AK315754;AMYH02035555;BC000216;BC004533;BC015347;BC040846;CH471106;NM_024038 AAG43143;AAH00216;AAH04533;AAH15347;ABM82375;ABM85554;BAG38108;EAW84302;NP_076943;Q9BQ61 Hs.515155 1646898;1848376 D1S3567;RH16594 MGC2803;fSAP18 My029 protein;hypothetical protein LOC79002;uncharacterized protein C19orf43 protein-coding ENSG00000123144 HGNC:28424 14528 PREDICTED 1605879 C19orf47 chromosome 19 open reading frame 47 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH atrazine 19 19 19 q13.2 37626510 37653832 - 40826967 40854434 - 40321060 40348527 - 8554872 11076863;11230166;12477932;14702039;15489336;16381901;19616115;24250222 126526 J3QKY6;J3QKZ5;J3QS16;J3QS80;J9JIE4;Q8N9M1 ABBA01040751;ABBA01040752;ABBA01040753;AC118344;AI394044;AK094207;AL834131;AMYH02036109;AX399908;BC023623;BC027935;BI916290;BM459040;CH471126;CR936760;NM_001256440;NM_001256441;NR_046202;XM_005258520;XM_005258521;XM_005258522 AAH23623;AAH27935;ACE86598;ACE87279;BAC04311;CAD33352;CAD38848;CAL37407;CAL37488;CAL38418;CAL38618;EAW56945;EAW56946;EAW56947;EAW56948;EAW56949;NP_001243369;NP_001243370;Q8N9M1;XP_005258577;XP_005258578;XP_005258579 Hs.631557 1768544;2139416;5109565 D19S624E;RH48175;SHGC-63610 DKFZp686P05129;FLJ36888 hypothetical protein LOC126526;uncharacterized protein C19orf47 protein-coding ENSG00000160392 HGNC:26723 08216 VALIDATED 1602195 C19orf52 chromosome 19 open reading frame 52 INTERACTS WITH copper(2+) sulfate; benzo[a]pyrene (ortholog); cadmium dichloride (ortholog) 19 19 19 p13.2 10934265 10935758 + 11039424 11040917 + 10928748 10930241 + 6480464 12477932;15489334;21139048;21163940;21890473;21906983;21963094;24250222 90580 K7ENF5;Q9BSF4 ABBA01029885;AC011442;AMYH02035513;BC005075;BC007244;BC011833;CH471106;NM_138358 AAH05075;AAH07244;AAH11833;EAW84160;NP_612367;Q9BSF4 Hs.164026 1713683;2162847 G09492;RH120724 hypothetical protein LOC90580;uncharacterized protein C19orf52 protein-coding ENSG00000142444 HGNC:25152 14275 PREDICTED 1606305 C19orf53 chromosome 19 open reading frame 53 INTERACTS WITH cobalt dichloride; valproic acid 19 19 19 p13.2 13779045 13783371 + 13885257 13889587 + 13774443 13778773 + 6480464 10540346;11042152;12477932;15489334;15635413;16196087;16344560;20379614;21906983;24816145 28974 K7EIU1;K7EN09;K7ESE5;Q9UNZ5 ABBA01029722;AC008686;AF078852;AF086483;AI689503;AK311855;AMYH02035587;BC015465;CH471106;DA768829;NM_014047 AAD44484;AAH15465;ABM82495;ABM85687;BAG34796;EAW84372;NP_054766;Q9UNZ5 Hs.231616 1684556;1848706;1857670;2109405 A007D32;D19S1134;HSPC023_9568;RH91188 HSPC023;LYDG10 leydig cell tumor 10 kDa protein homolog protein-coding HGNC:24991 13687 VALIDATED 1605988 C19orf60 chromosome 19 open reading frame 60 INTERACTS WITH benzo[a]pyrene; menadione; furan (ortholog) 19 19 19 p13.11 18601706 18605350 + 18699495 18703147 + 18588685 18592337 + 6480464 12477932;14702039;16189514;16344560;17207965;19060904;19615732;19770013;21900206 55049 M0QYI9;M0R0T3;Q96EN9 ABBA01051272;AC003112;AK000857;AK054670;AK091925;AK094710;AMYH02035735;AMYH02035736;BC012078;BI836487;CH471106;DB254892;NM_001100418;NM_001100419;XM_005259977 AAH12078;ADQ32374;BAA91400;BAC03773;EAW84719;EAW84720;EAW84721;EAW84722;EAW84723;NP_001093888;NP_001093889;Q96EN9;XP_005260034 Hs.655317 1685129;1691028;5015404;5015619;5015861;5020946;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D8S2279;L17705;L17971;RH68226;RH99007 FLJ20850;FLJ30108;FLJ34606;FLJ37391 hypothetical protein LOC55049;uncharacterized protein C19orf60 protein-coding ENSG00000006015 HGNC:26098 07948 VALIDATED 1603189 C19orf48 chromosome 19 open reading frame 48 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH afimoxifene; atrazine; benzo[a]pyrene 19 19 19 q13.33 48351918 48358943 - 51300961 51307974 - 50797704 50804717 - 6480464;8554872 12452007;12477932;15489334;17207965;18698046;20686220;8889548 84798 M0QXL0;M0QZ14;M0QZC8;M0R1J5;M0R1Y9;M0R3D1;Q6RUI8 ABBA01068298;AC010325;AMYH02036363;AMYH02036364;AY491972;BC006151;BC037227;BC051842;BG482545;BG746959;BG746996;BG824338;BM478180;BM760737;BM802982;BQ890364;BX283891;BX362144;BX508552;CD247712;CF141966;CF146381;CH471135;DR762491;HY031063;NM_001290149;NM_001290150;NM_001290151;NM_001290152;NM_001290153;NM_001290154;NM_001290155;NM_032712;NM_199249;NM_199250 AAH06151;AAH37227;AAH51842;AAR36899;ADQ32837;EAW71905;EAW71906;EAW71907;EAW71908;EAW71909;NP_001277078;NP_001277079;NP_001277080;NP_001277081;NP_001277082;NP_001277083;NP_001277084;NP_116101;NP_954857;NP_954858;Q6RUI8 Hs.256301 1734674;1852635 D19S659E;D19S681E MGC13170 multidrug resistance-related protein;uncharacterized protein C19orf48 protein-coding ENSG00000167747 HGNC:29667 14437 VALIDATED 1626536 C19orf64 chromosome 19 open reading frame 64 p13.3 14702039 100113377 AK098244 BAC05269;Q8N7K9 Hs.266873 protein-coding HGNC:33549 1604490 C19orf54 chromosome 19 open reading frame 54 INTERACTS WITH diazinon 19 19 19 q13.2 38047186 38056250 - 41246761 41256533 - 40740856 40750623 - 12477932;15146197;16344560;21890473 284325 M0QXR4;M0R0A6;M0R2U9;M0R322;M0R368;Q5BKX5;Q6ZWG5 ABBA01040786;AC020945;AI250667;AK123126;AK298068;AK310021;AMYH02036123;BC020262;BC090894;BC131602;BI521309;CH471126;CN281611;DA073426;NM_198476;XM_005258776;XM_005258778;XM_006723151;XM_006723152;XM_006723153 AAH90894;BAC85538;BAG60359;EAW56994;NP_940878;Q5BKX5;XP_005258833;XP_005258835;XP_006723214;XP_006723215;XP_006723216 Hs.585105 1653051;1789038;2176103;5015619 D11S3114;G65653;RH67887;SHGC-31377 FLJ17063;FLJ41131;MGC103014 OTTHUMP00000196530;UPF0692 protein C19orf54;hypothetical protein LOC284325 protein-coding ENSG00000188493 HGNC:24758 13449 VALIDATED 1603955 C19orf57 chromosome 19 open reading frame 57 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH thioacetamide (ortholog) 19 19 19 p13.12 13886915 13910654 - 13993168 14016909 - 13882348 13906098 - 6480464;8554872 12477932;14702039;16189514;19060904;20098747;21832049;23940030;24250222;8228263 79173 K7EIN8;K7ELK3;K7EMZ7;K7EP60;K7ERY6;Q0VDD7 ABBA01029706;ABBA01029707;ABBA01029708;ABBA01029709;AC020916;AK097431;AMYH02035592;BC002891;BC012945;BC119718;BC119719;CH471106;L17327;NM_024323;XM_005260078;XM_006722885 AAB02340;AAH02891;AAH12945;AAI19720;BAC05049;EAW84376;EAW84377;EAW84378;EAW84379;NP_077299;Q0VDD7;XP_005260135;XP_006722948 Hs.143288 1673518;2174125 RH47778;RH69020 MGC11271;MGC149720 hypothetical protein LOC79173;pre-T/NK cell associated protein (3B3);pre-T/NK cell-associated protein 3B3;uncharacterized protein C19orf57 protein-coding ENSG00000132016 HGNC:28153 14415 PREDICTED 2311616 C19orf67 chromosome 19 open reading frame 67 19 19 19 p13.12 14085754 14090241 - 14192444 14196607 - 14081632 14085795 - 15057824;24250222 646457 A6NJJ6 ABBA01029692;AC022098;AMYH02035599;DN831393;DR008137;DY655148;HY028687;HY212999;NM_001277378 A6NJJ6;NP_001264307 Hs.569971 OTTHUMP00000240721;OTTHUMP00000240722;UPF0575 protein;UPF0575 protein C19orf67;UPF0575 protein C19orf67-like;hypothetical protein LOC646457 protein-coding ENSG00000188032 HGNC:34354 VALIDATED 1602629 C19orf68 chromosome 19 open reading frame 68 INVOLVED IN hematopoietic progenitor cell differentiation (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; thioacetamide (ortholog) 19 19 19 q13.33 45540366 45565746 + 48673952 48700879 + 48170678 48197622 + 6480464 12477932;19773279;20195357;20379614;21906983;22505724 374920 Q86XI8 ABBA01033008;ABBA01033009;AC011466;AMYH02036286;AMYH02036287;AMYH02036288;BC043386;CH471177;NM_199341;XM_005259449;XM_006723204;XM_006723205 AAH43386;EAW52318;NP_955373;Q86XI8;XP_005259506;XP_006723267;XP_006723268 Hs.664054 1678565 RH93332 MGC50339 hypothetical protein LOC374920;uncharacterized protein C19orf68 protein-coding ENSG00000185453 HGNC:34495 14189 VALIDATED 1605065 C19orf66 chromosome 19 open reading frame 66 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; cobalt dichloride 19 19 19 p13.2 10092297 10099418 + 10196806 10203928 + 10086130 10093252 + 6480464 12477932;14702039;21044950 55337 K7ELT7;K7EML3;K7EMS9;K7EP02;Q9NUL5 ABBA01029948;AC020931;AK001098;AK002148;AK096142;AK098062;AL137694;AMYH02035484;BC010847;BC026180;BC035817;CH471106;CQ859736;CQ859738;DB481173;NM_018381;XM_006722786;XM_006722787;XM_006722788 AAH10847;AAH26180;AAH35817;BAA92109;BAC04710;CAH25918;CAH25919;EAW84066;EAW84067;EAW84068;EAW84069;EAW84070;NP_060851;Q9NUL5;XP_006722849;XP_006722850;XP_006722851 Hs.655613 1650218;1777662;2218724;5015961;5022322;5022578;5037552 ANGPTL6__4301;D11S2560;D15S1477;D19S1125;D1S1423;D8S2279;RH11710 FLJ11286;FLJ40743 UPF0515 protein C19orf66;hypothetical protein LOC55337 protein-coding ENSG00000130813 HGNC:25649 07747 VALIDATED 1601829 C19orf70 chromosome 19 open reading frame 70 FOUND IN mitochondrion (inferred); INTERACTS WITH hydralazine; methyl methanesulfonate; valproic acid 19 19 19 p13.3 5615800 5618278 - 5678425 5680911 - 5678422 5680900 - 6480464 12477932;14702039;17353931;21890473;21906983;22939629;23464991 125988 K7EIR2;K7EKR0;Q5XKP0 AB167391;ABBA01056001;AC011499;AK091768;AMYH02035330;BC009557;BC042386;BC052640;BM563199;CH471139;CS072481;FB342993;FB711116;NM_205767 AAH09557;AAH42386;BAE80091;CAI93619;CAR81497;CAS91513;EAW69159;EAW69160;NP_991330;Q5XKP0 Hs.356626 5037552;5113791 D8S2279;RH79810 P117;QIL1 protein-coding ENSG00000174917 HGNC:33702 15198 VALIDATED 1344891 C19orf8 chromosome 19 open reading frame 8 140783 HGNC:17974 1602703 C19orf73 chromosome 19 open reading frame 73 19 19 19 q13.33 46488874 46489617 - 49621654 49622397 - 49118397 49119140 - 6480464 12477932;14702039;17207965 55150 Q9NVV2 ABBA01032941;AC008687;AC245081;AK001352;BC051004;BC069669;BC069693;BC069712;BC069750;CH471177;NM_018111 AAH51004;AAH69669;AAH69693;AAH69712;AAH69750;ADQ32878;BAA91643;EAW52456;NP_060581;Q9NVV2 Hs.458310 FLJ10490 putative uncharacterized protein C19orf73 protein-coding ENSG00000221916 HGNC:25534 07676 VALIDATED 2301120 C19orf71 chromosome 19 open reading frame 71 ASSOCIATED WITH Melanoma (inferred) 19 19 19 p13.3 3475965 3480838 + 3538674 3544121 + 3538675 3551763 + 8554872 15057824 100128569 A6NCJ1 ABBA01002828;ABBA01002829;AC005786;AC005787;AI138384;AMYH02035257;BX396051;CH471139;DY654838;KF456477;NM_001135580;XM_005259462;XM_005259463;XM_005259464;XM_006722595 A6NCJ1;EAW69312;NP_001129052;XP_005259519;XP_005259520;XP_005259521;XP_006722658 Hs.664978 1851490 RH48811 Uncharacterized protein ENSP00000327950;hypothetical protein LOC100128569;uncharacterized protein C19orf71 protein-coding ENSG00000183397 HGNC:34496 VALIDATED 1607022 C19orf80 chromosome 19 open reading frame 80 ENCODES a protein that exhibits hormone activity (ortholog); INVOLVED IN positive regulation of protein processing; regulation of lipoprotein metabolic process; triglyceride homeostasis; FOUND IN extracellular region; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 19 19 19 p13.2 11245140 11247464 + 11350295 11352619 + 11239619 11241943 + 6480464 12477932;12975309;15342556;20686565;21988832;22569073;22809513;23150577;23261442;23415864;23505323;24078058;24262987;24852694 55908 K7EIY2;K7EJY6;Q6UXH0 ABBA01029868;AC011472;AF271350;AMYH02035524;AY358356;BC113823;BF511595;BP316755;CH471106;KF809856;KF809857;KF809858;NG_031953;NM_018687 AAF76204;AAI13824;AAI41564;AAI46553;AAQ88722;AHH82583;AHH82584;AHH82585;EAW84185;EAW84186;NP_061157;Q6UXH0 Hs.534467 ANGPTL8;PRO1185;PVPA599;RIFL;TD26 angiopoietin-like protein 8;betatrophin;betatrophin variant 1;betatrophin variant 2;hepatocellular carcinoma-associated gene TD26;hepatocellular carcinoma-associated protein TD26;lipasin APPROVED protein-coding ENSG00000130173 HGNC:24933 14245 VALIDATED 7778770 C19orf84 chromosome 19 open reading frame 84 19 19 19 q13.41 48942587 48944872 - 51891543 51893828 - 51388289 51390574 - 12477932 147646 I3L1E1;K7EN44 ABBA01068274;AC008750;AMYH02036379;BC043532;BC085012;NG_012924;NM_001193623 I3L1E1;NP_001180552 Hs.148344 uncharacterized protein C19orf84;uncharacterized protein LOC147646 protein-coding ENSG00000262874 HGNC:27112 VALIDATED 1353943 C19orf9 chromosome 19 open reading frame 9 199775 BC021822 HGNC:20172 7409248 C19orf83 chromosome 19 open reading frame 83 19 19 19 q13.32 42951063 42952213 + 46144905 46146098 + 45641647 45642840 + 12477932 100287177 K7EIZ4 ABBA01040937;AC006132;AC098776;AMYH02036206;BC000856;BC007358;LN608739;LN608741;NM_001242348 K7EIZ4;NP_001229277 Hs.668611 putative uncharacterized protein C19orf83;uncharacterized protein LOC100287177 protein-coding ENSG00000267757 HGNC:48331 VALIDATED 5489342 C19orf81 chromosome 19 open reading frame 81 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH dimethyl sulfoxide; valproic acid 19 19 19 q13.33 48204001 48213858 + 51152702 51162567 + 50632761 50659690 + 6480464;8554872 24250222 342918 C9J6K1;H7BZS0 ABBA01068309;AC008743;AMYH02036360;BX281890;NM_001195076;XM_006723188 C9J6K1;NP_001182005;XP_006723251 Hs.531650 OTTHUMP00000209170;OTTHUMP00000209171;hypothetical protein LOC342918;putative uncharacterized protein C19orf81 protein-coding ENSG00000235034 HGNC:40041 VALIDATED 3129877 C1DP2 C1D nuclear receptor corepressor pseudogene 2 10 10 10 q22.3 75782316 75783178 - 81791366 81792228 - 80031610 80032472 - 642538 ABBA01003815;AL356095;AMYH02023415;CH471142;NG_021450 EAW80418 bA369J21.3 pseudo HGNC:31660 VALIDATED 2816606 C1DP4 C1D nuclear receptor corepressor pseudogene 4 10 10 10 q22.3 75790968 75791825 - 81800021 81800878 - 80040265 80041122 - 727879 ABBA01003814;AL356095;AMYH02023415;NG_021449 pseudo HGNC:38028 INFERRED 3129884 C1DP3 C1D nuclear receptor corepressor pseudogene 3 10 10 10 q22.3 75775107 75775960 - 81784144 81784997 - 80024388 80025241 - 20379614 642521 ABBA01003815;AL356095;AMYH02023415;NG_021448 bA369J21.2 pseudo HGNC:31661 INFERRED 1344219 C1GALT1C1 C1GALT1-specific chaperone 1 This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009] X X X q24 120223852 120228328 - 119759529 119764005 - 120625674 120630150 - 628501;1580863;6480464;6907045;7240710;8554872;8699517 12361956 11042152;12464682;12477932;12975309;16251947;17228361;18061573;18321367;18339842;18537974;18695044;18840896;19199708;19778426;19923218;20144270;21262965;21496458;21906983;21963094;22332537;22416136;23035125;23390052;23424651;24250222;24462875;24616093;8889548 29071 Q96EU7 AA578739;AB084170;ABBA01036052;AC011890;AF088029;AF161552;AF177284;AJ238398;AK290111;AMYH02040365;AY159319;AY358642;BC011930;BC012502;BC050441;BG779539;BM971206;CH471107;NG_016219;NM_001011551;NM_152692 AAF29039;AAH11930;AAH50441;AAN78129;AAQ13670;AAQ89005;ADZ16066;BAC41493;BAF82800;CAC80277;EAX11873;NP_001011551;NP_689905;Q96EU7 Hs.643920 2128483;2218740 C1GALT2__4480;G31528 C1GALT2;C1Gal-T2;C38H2-L1;COSMC;HSPC067;MGC19947;MST143;TNPS C38H2-like protein 1;OTTHUMP00000023952;OTTHUMP00000023953;beta 1,3-galactosyltransferase 2;core 1 beta1,3-galactosyltransferase 2;core 1 beta3-Gal-T2;core 1 beta3-galactosyltransferase-specific molecular chaperone APPROVED protein-coding ENSG00000171155 HGNC:24338 06462 300611;300622 REVIEWED 1353224 C1HR C1AGOH temperature sensitivity complementing 709 HGNC:1227 1607075 C1D C1D nuclear receptor corepressor The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010] 2 2 2 p13-p12 68118951 68139778 - 68269332 68290159 - 68042200 68063027 - 6480464 10362552;11311939;11801738;12379155;12477932;15146197;16344560;17412707;17599775;18029348;19423540;20211142;20406964;20438785;20530579;21832049;21906983;23333304;24816145;9405624;9469821;9679063;9852280 10438 J3KPZ4;Q13901 ABBA01075475;ABBA01075476;ABBA01075477;ABBA01075478;AC079112;AI004680;AJ297543;AK290451;AMYH02004003;BC005235;BC009584;BC009589;BC016284;BG505686;BM354091;CH471053;CN342947;DA900336;NM_001190263;NM_001190265;NM_006333;NM_173177;X95592 AAH05235;AAH09584;AAH09589;AAH16284;AAX88887;ABZ92396;BAF83140;CAA64845;EAW99884;EAW99885;EAW99886;NP_001177192;NP_001177194;NP_006324;NP_775269;Q13901 Hs.602900;Hs.697447 1647519;1679107;1680974;2186932 G23952;RH40315;RH69396;RH69539 LRP1;MGC12261;MGC14659;SUN-CoR;hC1D C1D DNA-binding protein;C1D nuclear receptor co-repressor;OTTHUMP00000159964;OTTHUMP00000201764;OTTHUMP00000202687;OTTHUMP00000202688;SUNCOR;nuclear DNA-binding protein;nuclear nucleic acid-binding protein C1D;small unique nuclear receptor co-repressor;small unique nuclear receptor corepressor APPROVED protein-coding HGNC:29911 07382 606997 REVIEWED 3362449 C1DP1 C1D nuclear receptor corepressor pseudogene 1 10 10 10 p11.22 32564384 32565578 - 32799556 32800747 - 32510628 32511819 - 11311939 554049 ABBA01033381;AL354750;AMYH02022586;NG_005140 1647519;1679107;1680974 G23952;RH40315;RH69539 bA195O1.1 pseudo HGNC:31465 INFERRED 1603542 C1orf100 chromosome 1 open reading frame 100 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q44 217805882 217842427 + 244515937 244552390 + 244352635 244389088 + 8554872 12477932;15489334;16710414;22560479;22832964 200159 Q5SVJ3 ABBA01047199;ABBA01047200;AL645465;AMYH02003081;AMYH02003082;BC054479;BX099227;CH471148;HY055397;NM_001012970;NM_001276348;NM_001276349 EAW77100;EAW77101;NP_001012988;NP_001263277;NP_001263278;Q5SVJ3 Hs.442703 1699752 RH103482 RP11-518L10.1 OTTHUMP00000037987;OTTHUMP00000037988;hypothetical protein LOC200159;uncharacterized protein C1orf100 protein-coding ENSG00000173728 HGNC:30435 13168 VALIDATED 732029 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010] 7 7 7 p21.3 7191989 7253724 + 7222178 7288282 + 7182547 7248651 + 632427;1580863;6480464;6907045 11677243 10580128;12477932;12690205;14702039;15146197;15231747;16251947;16344560;17228361;18061573;18695044;18840896;18985719;19010793;19073881;19229831;19357720;19524017;19556244;19923218;20379614;21496458;21906983;22131235;22416136;22534569;22544166;22574202;22589738;22988244;23190752;23536887;23624553;23832667;24159190;24398680;24462875 56913 C9JDX1;C9K0C8;Q9NS00 AA443459;ABBA01056514;AC005532;AF155582;AI400132;AI471988;AJ132443;AJ243256;AJ278960;AK023557;AMYH02015187;AX175160;BC003174;CB992707;CH236948;CH471073;CN360565;DA977378;DB106731;DB136152;JA738797;NG_027732;NM_020156;XM_005249812;XM_005249813;XM_006715759 AAF81981;AAH03174;AAQ96887;CAC43870;CAC45046;CAC80435;CAC82373;CCF77051;EAL24308;EAW93588;EAW93589;EAW93590;NP_064541;Q9NS00;XP_005249869;XP_005249870;XP_006715822 Hs.239666 1653802;1660449;1661354;1661726;1669729;1680042;1681708;1777878;2173703;2175312;7185116 D0S8242E;D7S1659;D7S537E;G09436;RH64979;RH78171;RH80632;SGC38000;SHGC-2627;WI-16903 C1GALT;T-synthase B3Gal-T8;OTTHUMP00000200760;beta 1,3-galactosyltransferase;beta-1,3-galactosyltransferase;core 1 O-glycan T-synthase;core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1;core 1 beta1,3-galactosyltransferase 1;core 1 beta3-Gal-T;core 1 beta3-Gal-T1;core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1;glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 APPROVED protein-coding ENSG00000106392 HGNC:24337 16631 610555 REVIEWED 1604494 C1orf101 chromosome 1 open reading frame 101 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN CatSper complex (inferred) 1 1 1 q44 217914699 218093560 + 244624673 244803664 + 244461348 244640362 + 8554872 12477932;15489334;16710414;20379614;24250222 257044 B1AQM6;Q5SY80 ABBA01047195;ABBA01047196;ABBA01047197;ABBA01047198;AC099757;AK027205;AK302609;AK303059;AL591594;AMYH02003083;AMYH02003084;AMYH02003085;AMYH02003086;AMYH02003087;BC028392;BC032859;BX648685;CH471148;DB462258;NG_029082;NM_001130957;NM_001242340;NM_173807;XM_005273090;XM_006711756;XM_006711757 AAH32859;ABM81932;ABW03376;BAG64176;BAH13761;EAW77109;NP_001124429;NP_001229269;NP_776168;Q5SY80;XP_005273147;XP_006711819;XP_006711820 Hs.459534 1693112;1724385;1776718 AL010011;AL034284;RH122716 MGC33370;RP11-523K4.1 OTTHUMP00000037984;OTTHUMP00000037985;OTTHUMP00000037986;hypothetical protein LOC257044;uncharacterized protein C1orf101 protein-coding ENSG00000179397 HGNC:28491 14561 VALIDATED 1603371 C1orf105 chromosome 1 open reading frame 105 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; valproic acid 1 1 1 q24.3 145499293 145547396 + 172389828 172437969 + 172420688 172468829 + 6480464;8554872 12477932;15489334;16710414;17081983;20379614;21832049 92346 E9PLC3;H0YCE4;O95561;Q5R3C7 ABBA01027919;AL035295;AMYH02002148;BC038410;CH471067;NM_001300760;NM_139240;XM_005245608;XM_005245609;XM_005245610;XM_006711630;Z97195 AAH38410;CAA22895;EAW90924;NP_001287689;NP_640333;O95561;XP_005245665;XP_005245666;XP_005245667;XP_006711693 Hs.517991 1655385;1692864;1692888;1693792;1774597;1854382;2108367;2123948;2168620 D1S1860E;G42299;G42311;PIGC_8542;RH12889;SHGC-33416;SHGC-57331;SHGC-58192;SHGC-58931 RP1-106H8.1 OTTHUMP00000032649;OTTHUMP00000230863;hypothetical protein LOC92346;uncharacterized protein C1orf105 protein-coding ENSG00000180999 HGNC:29591 14291 VALIDATED 1601862 C1orf106 chromosome 1 open reading frame 106 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 1 1 1 q32.1 173984710 174008910 + 200860627 200884864 + 200891499 200915736 + 6480464;8554872 12477932;14702039;15342556;15489334;16344560;19915572;21102463;21297633;21833088;23128233 55765 C9JAT8;E9PK29;Q3KP66 ABBA01027539;ABBA01027540;ABBA01027541;AC099756;AK001583;AK001763;AK025066;AK303885;AK316510;AMYH02002474;AW467005;BC106877;BP357953;CH471067;DA721467;DC346620;NM_001142569;NM_018265;XM_006711445 AAI06878;BAA91771;BAA91892;BAG64821;BAH14881;EAW91323;NP_001136041;NP_060735;Q3KP66;XP_006711508 Hs.518997 1676686;1764635 RH65506;SHGC-148222 FLJ10901;MGC125608 OTTHUMP00000033937;OTTHUMP00000033938;hypothetical protein LOC55765;uncharacterized protein C1orf106 protein-coding ENSG00000163362 HGNC:25599 07712 VALIDATED 1606402 C1orf110 chromosome 1 open reading frame 110 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH silicon dioxide; thioacetamide (ortholog) 1 1 1 q23.3 135928424 135942942 - 162820766 162838605 - 162850976 162868815 - 6480464;8554872 12477932;14702039;15489334;16710414;19536175;20664687;21832049;23266556 339512 Q5JSG0;Q86UF4 ABBA01047302;AK123573;AL392003;AMYH02002044;BC040018;CH471067;NM_178550;XM_005245125;XM_005245126;XM_006711289 BAC85648;EAW90726;NP_848645;Q86UF4;XP_005245182;XP_005245183;XP_006711352 Hs.407631 FLJ41579;MGC48998;RP11-331H2.2 OTTHUMP00000032331;coiled-coil domain-containing protein C1orf110;hypothetical protein LOC339512 protein-coding ENSG00000185860 HGNC:28736 14661 VALIDATED 1603514 C1orf111 chromosome 1 open reading frame 111 INTERACTS WITH fonofos; parathion; terbufos 1 1 1 q23.3 135446582 135449710 - 162343515 162347017 - 162373725 162377227 - 6480464 12477932;16189514;17207965;21832049 284680 Q5T0L3;V9GYQ4 ABBA01047307;AL512785;AMYH02002038;AY248900;BC032957;CH471067;NM_182581;XM_005245103 AAH32957;AAP20051;ADQ32851;EAW90701;NP_872387;Q5T0L3;XP_005245160 Hs.97784 HSD20;RP11-565P22.3 OTTHUMP00000029530;hypothetical protein LOC284680;uncharacterized protein C1orf111 protein-coding HGNC:27648 14154 VALIDATED 1606277 C1orf109 chromosome 1 open reading frame 109 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; hydrogen peroxide 1 1 1 p34.3 36425252 36434231 - 38147242 38158007 - 37681570 37692231 - 6480464 12477932;14702039;15489334;17207965;21890473;21906983;22548824;24144296;24250222 54955 B4DRQ5;Q9NX04;V9GY35;V9GYI2;V9GYN4;V9GYQ8;V9GYT8 ABBA01023270;ABBA01023271;ABBA01023272;AC104336;AK000515;AK092319;AK299377;AK316093;AMYH02000800;BC018109;BC063843;CH471059;NM_017850;XM_005270975;XM_005270977;XM_005270978;XM_005270979;XM_005270980;XM_005270981;XM_005270982;XM_005270984;XM_006710713;XM_006710714 AAH18109;AAH63843;ADQ31991;BAA91221;BAG61367;BAH14464;EAX07326;EAX07327;EAX07328;EAX07329;EAX07330;NP_060320;Q9NX04;XP_005271032;XP_005271034;XP_005271035;XP_005271036;XP_005271037;XP_005271038;XP_005271039;XP_005271041;XP_006710776;XP_006710777 Hs.272673 FLJ20508 OTTHUMP00000004518;hypothetical protein LOC54955;uncharacterized protein C1orf109 protein-coding ENSG00000116922 HGNC:26039 07918 614799 PROVISIONAL 1603990 C1orf112 chromosome 1 open reading frame 112 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; calcitriol 1 1 1 q24.2 142874342 142932011 + 169763224 169822229 + 169794980 169853088 + 6480464;8554872 12477932;14702039;19064610;19536175;20379614;21139048;21832049;21890473;23039964 55732 B4E0A9;Q9NSG2 ABBA01027945;ABBA01027946;AK001568;AK023532;AK096493;AK127098;AK294569;AK299369;AK303296;AK310638;AL021940;AL031297;AL354614;AMYH02002117;BC011012;BC011445;BC062689;BC091516;BC107168;BC107169;CH471067;NM_018186;XM_005245317;XM_005245319 AAH91516;AAI07169;AAI07170;ACE86830;ACE87516;BAA91761;BAB14600;BAG53304;BAG54436;BAG57763;BAG61359;BAG64371;CAB89727;EAW90863;EAW90864;EAW90865;EAW90866;NP_060656;Q9NSG2;XP_005245374;XP_005245376 Hs.443551 1699940;1847091 RH103578;SHGC-75871 FLJ10706;FLJ13470;MGC130018;MGC130019;RP1-97P20.1 OTTHUMP00000033966;OTTHUMP00000034000;hypothetical protein LOC55732;uncharacterized protein C1orf112 protein-coding HGNC:25565 07694 PREDICTED 1604289 C1orf116 chromosome 1 open reading frame 116 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; benzo[a]pyrene; hydrogen peroxide 1 1 1 q32.1 180443370 180457605 - 207191866 207208555 - 207018521 207032761 - 6480464;8554872 12477932;14702039;15525603;16189514;16344560;18029348;18729074;19056867;19447967;9389513 79098 Q9BPY1;Q9BW04 ABBA01048247;AC098935;AC247050;AK093826;AK096741;AL832940;AY352640;BC000765;BC001943;BC002325;BC018959;BG150416;CH471100;DA859157;NM_001083924;NM_023938;XM_005273259;XM_006711530 AAH00765;AAH01943;AAR11484;BAC04233;CAH56284;EAW93511;NP_001077393;NP_076427;Q9BW04;XP_005273316;XP_006711593 Hs.32417 1665715;2117375;2176540 A007I27;RH16330;SHGC-34392 DKFZp666H2010;FLJ36507;MGC2742;MGC4309;SARG OTTHUMP00000034747;OTTHUMP00000228548;specifically androgen-regulated gene protein;specifically androgen-regulated protein protein-coding ENSG00000182795 HGNC:28667 15294 611680 VALIDATED 1603028 C1orf123 chromosome 1 open reading frame 123 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; valproic acid 1 1 1 p32.3 51967614 51974132 - 53679771 53686289 - 53214099 53220617 - 6480464;8554872 12477932;14702039;15489334;16169070;16710414;17207965;21139048;21798097;21890473;21900206;21906983;22505724;23000965;24250222;24816145 54987 B1ARP7;Q9NWV4 ABBA01074743;AK000587;AK092734;AK094371;AL606760;AMYH02001034;BC010908;CH471059;CR457246;NM_017887 AAH10908;ADQ33192;BAA91272;CAG33527;EAX06749;EAX06750;EAX06751;EAX06752;NP_060357;Q9NWV4 Hs.525391 2120086;2143308;2164721 D1S1890E;RH64517;SHGC-17418 FLJ20580;RP5-1024G6.3 OTTHUMP00000010492;OTTHUMP00000035907;UPF0587 protein C1orf123;hypothetical protein LOC54987 protein-coding ENSG00000162384 HGNC:26059 07929 PREDICTED 1605938 C1orf115 chromosome 1 open reading frame 115 FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; coumestrol 1 1 1 q41 194082992 194091863 + 220863628 220872499 + 220690286 220699157 + 6480464 12477932;14702039;15489334;16344560;16710414;21832049;8889548 79762 Q9H7X2 ABBA01048073;AI188887;AK024208;AK056749;AK091937;AK125403;AL592406;AMYH02002733;BC036067;BU728891;CH471100;DA175175;NM_024709 AAH36067;BAB14851;BAG52445;EAW93296;EAW93297;NP_078985;Q9H7X2 Hs.519839 1847425;2147032;2181541 A004A32;HSC21A072;SHGC-17189 FLJ14146;RP11-322F10.4 OTTHUMP00000035468;hypothetical protein LOC79762;uncharacterized protein C1orf115 protein-coding ENSG00000162817 HGNC:25873 08596 VALIDATED 1606463 C1orf122 chromosome 1 open reading frame 122 INTERACTS WITH atrazine; cyclosporin A; methyl methanesulfonate 1 1 1 p34.3 36551297 36552950 + 38273473 38275126 + 37807801 37809454 + 6480464 12477932;14702039;15489334;16710414;19578796;21988832 127687 Q6ZSJ8 ABBA01023263;AK127381;AL929472;AMYH02000803;AY517499;BC016402;BC057819;BC102041;BC107856;BC127187;BC127188;CH471059;CV575592;CX788342;NM_001142726;NM_198446 AAH57819;AAI02042;AAI27188;AAI27189;AAS76640;BAC86950;EAX07315;NP_001136198;NP_940848;Q6ZSJ8 Hs.532749 5493453 UniSTS:486466 FLJ23476;FLJ45459 ALAESM;OTTHUMP00000004512;OTTHUMP00000232301;hypothetical protein LOC127687;uncharacterized protein C1orf122;uncharacterized protein LOC127687 protein-coding ENSG00000197982 HGNC:24789 13508 VALIDATED 1606866 C1orf132 chromosome 1 open reading frame 132 q32.2 14702039 388732 AK123177;AL356275;XR_000522;XR_000619 CAI40193;Q5TGB9 Hs.671099 1338984;1722593;1759545;1791440;1791730;1795514;2118948;2118950;2128275;2178351;2178467 CD34_304;D1S2692;D1S3317;G60378;PMC110554P1;PMC122934P1;RH35959;RH69685;RH70214;SHGC-151219;SHGC-33582 FLJ35650;MCP protein-coding HGNC:32018 5130803 C1orf134 chromosome 1 open reading frame 134 FOUND IN extracellular region (inferred); INTERACTS WITH lead(0); lead(2+) p36.13 6480464 574037 Q5TEV5 AL109627 CAI22564;Q5TEV5 protein-coding HGNC:32021 7246865 C1orf137 chromosome 1 open reading frame 137 INTERACTS WITH cadmium atom 1 1 p13.1 117236734 117249225 + 116694112 116706603 + 6480464 388667 Q5JT78 AA922397;ABBA01068493;ABBA01068494;AL356748;AMYH02001794;AMYH02001795;CH471122;LN607883;NM_001013643 EAW56660;NP_001013665;Q5JT78 Hs.127851 putative uncharacterized protein C1orf137 protein-coding HGNC:32040 18385 VALIDATED 1606706 C1orf127 chromosome 1 open reading frame 127 ASSOCIATED WITH Melanoma (inferred) 1 1 1 p36.22 10117782 10154399 - 11006530 11042094 - 10946473 10982037 - 8554872 12477932;14702039;16344560;22693459 148345 B7ZLG7;G8JLG8;H0YBK5;H3BM07;K7EPZ7;Q8N9H9 ABBA01035619;AK094437;AK095152;AL358492;AMYH02000279;BC126349;BC143794;BC143795;BC143797;CA438298;CH471130;DA093849;DW009828;NM_001170754;XM_006710377 AAI26350;AAI43795;AAI43796;AAI43798;BAC04355;EAW71666;EAW71667;NP_001164225;Q8N9H9;XP_006710440 Hs.127026 1732820;5024543 D1S1267;D1S3690 FLJ37118;FLJ37833 OTTHUMP00000196215;hypothetical protein LOC148345;uncharacterized protein C1orf127 protein-coding ENSG00000175262 HGNC:26730 08780 VALIDATED 1625840 C1orf143 chromosome 1 open reading frame 143 q41 11181995 440714 CH471100 EAW93325 5022578 D1S1423 protein-coding HGNC:32045 1605298 C1orf131 chromosome 1 open reading frame 131 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; disodium selenite 1 1 1 q42.2 204624375 204641792 - 231359509 231376933 - 231223763 231241187 - 6480464;8554872 12477932;12975309;14702039;21832049;24250222;24816145 128061 Q5TBH9;Q5TBI2;Q8NDD1 ABBA01033034;AK055124;AK303359;AL137801;AL834274;AMYH02002889;AY358235;BC036800;BC053609;BC062353;CH471098;CX783674;NM_001300830;NM_152379;XM_005273051 AAH36800;AAH53609;AAH62353;AAQ88602;BAB70857;BAG64419;CAD38949;EAW69948;EAW69949;EAW69950;EAW69951;EAW69952;NP_001287759;NP_689592;Q8NDD1;XP_005273108 Hs.743464 1692092;1692996;1698802 AL033686;AL034224;RH102964 DKFZp547B1713 OTTHUMP00000036143;OTTHUMP00000036144;OTTHUMP00000036145;OTTHUMP00000036146;hypothetical protein LOC128061;uncharacterized protein C1orf131 protein-coding ENSG00000143633 HGNC:25332 13204 VALIDATED 6899621 C1orf145 chromosome 1 open reading frame 145 1 1 q42.13 228391207 228401365 - 228203506 228213664 - 10737800;12477932;14702039;15489334;16710414 574407 H0YE71;Q96MR7 ABBA01005833;AK056556;AL359510;AMYH02002839;AMYH02002840;BC027909;CH471098;NR_073154;NR_073155 BAB71215;EAW69864;EAW69865;Q96MR7 Hs.650039 ncrna ENSG00000162913 HGNC:32047 VALIDATED 1605786 C1orf140 uncharacterized LOC400804 INTERACTS WITH (+)-catechin; paraoxon 1 1 1 q41 194722654 194729022 - 221503270 221509638 - 221329928 221336296 - 6480464 12477932 400804 Q5VVS0 ABBA01048067;AK128488;AL445470;AMYH02002739;BC140931;NR_024236 BAC87460;Q5VVS0 Hs.722626 2152528;5014055;5015961;5020948 AL009518;D15S1477;D1S3697;G35510 FLJ46636;MGC176608 APPROVED ncrna ENSG00000234754 17386 PREDICTED 1606070 C1orf141 chromosome 1 open reading frame 141 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 1 1 1 p31.3 65847829 65884157 - 67557859 67600654 - 67092176 67134971 - 8554872 12477932;22019778;22412388;24324551 400757 F2Z2X7;Q5JVX6;Q5JVX7;S4R3Z8 ABBA01074523;AL109843;AL133320;AMYH02001198;BC047053;BC062728;BC090886;BG772061;CH471059;HC006824;NM_001276351;NM_001276352;NR_075077 AAH47053;AAH90886;CBH19218;EAX06503;NP_001263280;NP_001263281;Q5JVX7 Hs.666621 1644018;1673658 AL009579;AL009632 MGC48454 OTTHUMP00000011044;OTTHUMP00000011045;hypothetical protein LOC400757;uncharacterized protein C1orf141 protein-coding ENSG00000203963 HGNC:32044 18418 VALIDATED 1602191 C1orf158 chromosome 1 open reading frame 158 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 1 1 1 p36.21 11918687 11933640 + 12806163 12821102 + 12746215 12761169 + 6480464;8554872 12477932;15489334;16710414;17207965 93190 Q5VUY5;Q8N1D5 ABBA01003098;AC244670;AK026705;AK298760;AL513016;BC029894;BX647383;CH471130;HY002971;NM_152290 AAH29894;ADQ31595;BAG60902;EAW71746;NP_689503;Q8N1D5 Hs.98095 1684924;1692930;5015861;5022578;7185938 AL034179;D10S16;D1S1423;RH98526 DKFZp686C0236;MGC35194;RP11-474O21.4 OTTHUMP00000001870;OTTHUMP00000001871;hypothetical protein LOC93190;uncharacterized protein C1orf158 protein-coding HGNC:28567 14604 VALIDATED 1603476 C1orf146 chromosome 1 open reading frame 146 1 1 1 p22.1 90929995 90957788 + 92683573 92711367 + 92218016 92245810 + 12477932;15496913 388649 Q5VVC0;X6R7K4 AA861282;ABBA01045550;AL451010;AMYH02001480;BC130499;BC171742;BQ435566;BQ435801;BU567193;BU852979;CH471097;NM_001012425 AAI30500;ADR82861;EAW73099;NP_001012425;Q5VVC0 Hs.558823 1663535 AL009497 RP11-163M2.4 OTTHUMP00000011941;OTTHUMP00000011942;hypothetical protein LOC388649;uncharacterized protein C1orf146 protein-coding ENSG00000203910 HGNC:24032 17988 VALIDATED 1606269 C1orf159 chromosome 1 open reading frame 159 FOUND IN integral component of membrane (inferred); INTERACTS WITH diazinon; 4-aminopyridine (ortholog); thioacetamide (ortholog) 1 1 1 p36.33 1559584 1569871 + 1017198 1051736 - 1081818 1116361 - 6480464 12477932;12975309;14702039;15489334;16344560;16710414;8889548 54991 B2REC4;B2REC5;J3KSJ6;J3KT48;J3QKM1;J3QRL0;J3QSF0;Q5T2W7;Q5T2W9;Q96HA4 ABBA01016014;ABBA01016015;ABBA01016016;ABBA01016017;AI270164;AK000591;AK024796;AK054793;AK057368;AK124054;AK128271;AK128434;AK301998;AL390719;AMYH02000078;AMYH02000079;AMYH02000080;AY358490;BC008788;BC028173;BE280321;BM974309;BU624412;BX394177;CH471183;DA066689;DB026989;NM_017891;XM_005244765;XM_006710716;XM_006710717;XM_006710718;XM_006710719;XM_006710720;XM_006710721;XR_241033;XR_426615 AAH08788;AAQ88854;ADZ15797;BAA91276;BAC87438;BAG51908;BAG63402;EAW56288;EAW56289;EAW56290;EAW56291;NP_060361;Q96HA4;XP_005244822;XP_006710779;XP_006710780;XP_006710781;XP_006710782;XP_006710783;XP_006710784 Hs.235095 5022651 D11S2921 FLJ20584;FLJ21143;FLJ36119;RP11-465B22.4 OTTHUMP00000000807;OTTHUMP00000000808;OTTHUMP00000000809;OTTHUMP00000000896;OTTHUMP00000000897;OTTHUMP00000205753;hypothetical protein LOC54991;uncharacterized protein C1orf159 protein-coding ENSG00000131591 HGNC:26062 07930 VALIDATED 1604535 C1orf162 chromosome 1 open reading frame 162 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; disodium selenite 1 1 1 p13.2 110263526 110268056 + 112016474 112021134 + 111473867 111478512 + 6480464 12477932;14702039 128346 Q8NEQ5 AA333542;ABBA01068397;AK123160;AL390195;AMYH02001727;BC017973;BG545926;CA439311;CH471122;HX785231;KF455010;NM_001300834;NM_001300835;NM_174896;XM_005270475;XM_005270476 AAH17973;ABM82902;ABM86093;EAW56497;EAW56498;NP_001287763;NP_001287764;NP_777556;Q8NEQ5;XP_005270532;XP_005270533 Hs.288010 1682387 RH93699 MGC24133 OTTHUMP00000013474;OTTHUMP00000013475;transmembrane protein C1orf162 protein-coding ENSG00000143110 HGNC:28344 14495 VALIDATED 1603248 C1orf174 chromosome 1 open reading frame 174 FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; diazinon; formaldehyde 1 1 1 p36.32 3059840 3070495 - 3805697 3816857 - 3889133 3900293 - 6480464 12477932;14702039;16169070;18029348;19322201;21044950;21832049 339448 Q8IYL3 ABBA01073650;AK125092;AK289493;AL691523;AMYH02000138;BC035643;BC047611;BC067302;BX005110;CH471130;NM_207356;XM_005244743 AAH35643;AAH67302;BAF82182;EAW71492;EAW71493;NP_997239;Q8IYL3;XP_005244800 Hs.103939 1688468;1766319;2187333;5015861;5022322;7185938 D10S16;D11S2560;RH93299;SHGC-149666;SHGC-30623 RP13-531C17.2 OTTHUMP00000003854;UPF0688 protein C1orf174;hypothetical protein LOC339448 protein-coding ENSG00000198912 HGNC:27915 17353 VALIDATED 1604211 C1orf168 chromosome 1 open reading frame 168 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH aflatoxin B1; coumestrol; cyclosporin A 1 1 1 p32.2 55469351 55569881 - 57184477 57285369 - 56718804 56819696 - 6480464;8554872 14702039;16344560;22843503;23251661;8889548 199920 Q5VWT5 ABBA01074677;ABBA01074678;AK093468;AK125198;AK310842;AL035705;AL360295;AMYH02001080;BU686304;BX648439;DA523424;DB193989;NM_001004303;XM_005270583;XM_005270584;XM_005270585;XM_006710416;XR_246247 ACE86516;ACE87195;BAC86080;CAH56148;NP_001004303;Q5VWT5;XP_005270640;XP_005270641;XP_005270642;XP_006710479 Hs.437655 1708410;1712030;2147251;2161685 AL009563;RH118712;SHGC-58246;SHGC-83491 FLJ43208;RP4-758N20.2 OTTHUMP00000009991;hypothetical protein LOC199920;uncharacterized protein C1orf168 protein-coding ENSG00000187889 HGNC:27295 14120 VALIDATED 1606860 C1orf186 chromosome 1 open reading frame 186 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol 1 1 1 q32.1 179204080 179208813 + 206238872 206288236 - 206053134 206102459 + 6480464;8554872 12477932;14702039;15489334;16710414 440712 Q6ZWK4 ABBA01001845;ABBA01001846;AC244035;AI683243;AK122631;AX118901;BC071785;BX104285;BX571818;CH471067;NM_001007544;XM_005272738 AAH71785;BAC85497;CAC38524;EAW91594;NP_001007545;Q6ZWK4;XP_005272795 Hs.662248 1691196 RH91969 FLJ16052 OTTHUMP00000034347;hypothetical protein LOC440712;uncharacterized protein C1orf186 protein-coding ENSG00000263961 HGNC:25341 17400 VALIDATED 1604177 C1orf167 chromosome 1 open reading frame 167 1 1 1 p36.22 10940298 10952024 + 11823827 11849642 + 11762214 11789585 + 12370778;12477932;19729601;19913121;20416077;20628086;23824729 284498 A2VCK6;H0Y5F2;H0Y5L4;H7BXQ2;Q5SNV9;Q8NDG0 ABBA01003059;ABBA01003060;AF398935;AL833920;AL833926;AL834308;AL953897;AMYH02000300;BC031692;BC128091;BC128092;HY031308;HY056181;NM_001010881;XM_006710065;XM_006710066;XM_006710067;XM_006710068;XM_006711077;XM_006711078;XM_006711079;XM_006726324;XM_006726325;XM_006726326;XM_006726327 AAH31692;AAI28092;AAI28093;CAD38776;CAD38782;CAD38978;NP_001010881;Q5SNV9;XP_006710128;XP_006710129;XP_006710130;XP_006710131;XP_006711140;XP_006711141;XP_006711142;XP_006726387;XP_006726388;XP_006726389;XP_006726390 Hs.585415;Hs.730573;Hs.742886 5022200 L18426 DKFZp434E1410;DKFZp434F1313;RP11-56N19.2 OTTHUMP00000002264;OTTHUMP00000002265;OTTHUMP00000002266;hypothetical protein LOC284498;uncharacterized protein C1orf167 protein-coding HGNC:25262 VALIDATED 1626188 C1orf193 chromosome 1 open reading frame 193 100101443 AL513523;NM_001099689 CAH71419;NP_001093159 FLJ21919 protein-coding HGNC:32329 1606869 C1orf189 chromosome 1 open reading frame 189 INTERACTS WITH (+)-catechin 1 1 1 q21.3 127243566 127250527 - 154171561 154178841 - 154199085 154206365 - 12477932;15489334;16710414 388701 Q5VU69 ABBA01049475;AI052706;AL590431;AMYH02001918;AMYH02001919;BC127710;BC130509;CH471121;HY025946;NM_001010979 AAI27711;AAI30510;ADR83452;EAW53228;NP_001010979;Q5VU69 Hs.104967 1735654;1848456;1850070;2138400;2147428;2171874 A002G29;D1S1842E;D1S1900E;D9S2048;RH11751;RH12547 OTTHUMP00000034203;hypothetical protein LOC388701;uncharacterized protein C1orf189 protein-coding HGNC:32305 17373 VALIDATED 1604538 C1orf194 chromosome 1 open reading frame 194 1 1 1 p13.3 107917953 107925883 - 109648573 109656484 - 109105951 109113862 - 11329013;12477932 127003 B1ALJ5;E9PLX1;E9PRR4;Q5T5A4 ABBA01068371;ABBA01068372;AL138933;AL356488;AMYH02001704;BC127905;BG196327;BG772797;NM_001122961;XM_005270448;XM_006710342;XM_006710343;XM_006710344 NP_001116433;Q5T5A4;XP_005270505;XP_006710405;XP_006710406;XP_006710407 Hs.446962 OTTHUMP00000013446;OTTHUMP00000013448;hypothetical protein LOC127003;uncharacterized protein C1orf194 protein-coding ENSG00000179902 HGNC:32331 VALIDATED 1603553 C1orf177 chromosome 1 open reading frame 177 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH fonofos; parathion; terbufos 1 1 1 p32.3 53559332 53595605 + 55271736 55307937 + 54806063 54842264 + 6480464;8554872 12477932;14702039;20379614 163747 Q3ZCV2 ABBA01074707;AC096536;AK097520;AMYH02001059;AMYH02001060;AMYH02001061;BC039109;BC064142;BU633253;CH471059;KF495955;NM_001110533;NM_152607 AAH39109;AAH64142;BAC05087;EAX06665;EAX06666;NP_001104003;NP_689820;Q3ZCV2 Hs.376018 1781832 SHGC-172962 FLJ40201 OTTHUMP00000011682;OTTHUMP00000011683;hypothetical protein LOC163747;uncharacterized protein C1orf177 protein-coding ENSG00000162398 HGNC:26854 08807 VALIDATED 1601806 C1orf185 chromosome 1 open reading frame 185 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred) 1 1 1 p32.3 49854427 49900283 + 51442129 51613754 + 50976457 51148082 + 8554872 14702039;16710414;21076409 284546 Q5T7R7;R4GMU4 ABBA01074813;ABBA01074814;AK130995;AL162430;AL590455;AMYH02000995;NM_001136508;XM_005270771 NP_001129980;Q5T7R7;XP_005270828 Hs.176177 FLJ27485 OTTHUMP00000009757;hypothetical protein LOC284546;uncharacterized protein C1orf185 protein-coding ENSG00000204006 HGNC:28096 PREDICTED 1604859 C1orf197 chromosome 1 open reading frame 197 q42.12 653311 AC092811;XM_928433 XP_933526 FLJ43126;PRO0650 protein-coding HGNC:32338 1604852 C1orf196 chromosome 1 open reading frame 196 p36.21 780789 B1AJZ1 AL031273;Z99291 B1AJZ1;CAI20112;CAI22533 protein-coding HGNC:32336 1601704 C1orf204 chromosome 1 open reading frame 204 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); intracellular (inferred); INTERACTS WITH afimoxifene; silicon dioxide 1 1 1 q23.2 132872691 132893564 - 159804264 159825544 - 159834474 159855347 - 6480464;8554872 14702039;15489334;15815621;23472185 284677 Q5VU13 ABBA01016617;ABBA01016618;AK096506;AL080176;AL590560;AMYH02002018;NM_001134233 CAH71105;NP_001127705 Hs.647718 1798158;2178946 SLAMF8_2285;WI-11725 FLJ20442;FLJ39187 OTTHUMP00000033459;hypothetical protein LOC284677;uncharacterized protein LOC284677 protein-coding ENSG00000188004 HGNC:27647 PREDICTED 7246539 C1orf195 chromosome 1 open reading frame 195 1 1 p36.21 15490692 15498120 - 15164196 15171624 - 15489334;16710414 727684 Q5TG92 ABBA01004717;AL035405;AMYH02000352;AMYH02000353;AW269992;BX095243;LN607847;NM_001278501;NM_001278502 NP_001265430;NP_001265431;Q5TG92 Hs.667584;Hs.735267 putative uncharacterized protein C1orf195 protein-coding HGNC:32332 VALIDATED 1348164 C1orf20 chromosome 1 open reading frame 20 q25 11318611 116492 AF288396 Hs.693174 protein-coding HGNC:16786 1602995 C1orf198 chromosome 1 open reading frame 198 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; dasatinib (anhydrous) 1 1 1 q42.2 204238818 204271280 - 230972865 231005335 - 230837119 230869589 - 6480464;8554872 12477932;12665801;14702039;15489334;16344560;16710414;19322201;21139048;21906983;24816145 84886 E5RFY9;E5RI90;Q9H425 ABBA01033029;ABBA01033030;ABBA01033031;AK027431;AK096166;AK131306;AK292433;AL118511;AL713769;AL833809;AMYH02002883;AMYH02002884;BC004870;BC066649;CH471098;DA333501;DA754292;NM_001136494;NM_001136495;NM_032800 AAH66649;BAB55105;BAD18472;BAF85122;BAG53223;EAW69923;EAW69924;EAW69925;EAW69926;EAW69927;NP_001129966;NP_001129967;NP_116189;Q9H425 Hs.520494 2149791;2162327;5110525 A006T20;RH45528;SHGC-76517 DKFZp667D152;FLJ14525;FLJ16283;FLJ38847;MGC10710 OTTHUMP00000035916;OTTHUMP00000228226;OTTHUMP00000228228;hypothetical protein LOC84886;uncharacterized protein C1orf198 protein-coding ENSG00000119280 HGNC:25900 13359 VALIDATED 1601758 C1orf218 chromosome 1 open reading frame 218 q31.3 12477932;14702039 54530 AK000061;AK024832;AK091207;AL139136;AL831839;BC074735;NM_019049 AAH74735;BAA90918;BAB15024;CAD38548;CAI15312;NP_061922;Q5TAI8;Q6B0I8;Q9H774;Q9NXU2 Hs.657779 DKFZp547O0715;FLJ20054 protein-coding HGNC:25946 08611 1603568 C1orf210 chromosome 1 open reading frame 210 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 3,4-dichloroaniline; aflatoxin B1 1 1 1 p34.2 42029660 42033395 - 43747554 43751334 - 43281883 43285617 - 6480464 12477932;15489334;16341674;17207965 149466 Q8IVY1 ABBA01050960;AC093420;AL696898;AMYH02000897;AX191594;BC041633;BM273035;BM784450;CH471059;NM_001164829;NM_182517;XM_005270523 AAH41633;ADQ32137;CAC51180;EAX07108;EAX07109;NP_001158301;NP_872323;Q8IVY1;XP_005270580 Hs.158963 MGC52423 OTTHUMP00000224940;OTTHUMP00000224941;putative uncharacterized protein C1orf210 protein-coding ENSG00000253313 HGNC:28755 14677 VALIDATED 1602948 C1orf220 chromosome 1 open reading frame 220 1 1 1 q25.2 151621094 151627187 + 178511931 178631729 + 178542796 178548889 + 12477932;14702039;24097068 400798 Q5T0J3 ABBA01027834;ABBA01027835;AK092849;AL513013;AMYH02002219;BC136727;CH471067;LK938640;NR_033186 AAI36728;BAC03990;EAW91026;Q5T0J3 Hs.668085 DKFZp564J047;FLJ35530;FLJ40199 ncrna ENSG00000213057 HGNC:33805 13417 VALIDATED 1602984 C1orf216 chromosome 1 open reading frame 216 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 1 1 1 p34.3 34453940 34459253 - 36179477 36184790 - 35713876 35719189 - 6480464;8554872 12477932;14702039;16189514 127703 B4DG08;Q8TAB5 ABBA01023335;AK096303;AK096466;AK294352;AL354864;AMYH02000769;BC026909;CH471059;NM_152374 AAH26909;BAC04755;BAC04799;BAG57619;EAX07403;EAX07404;NP_689587;Q8TAB5 Hs.112023 1703180;2124526;2169455;2169457 A002D03;G19944;SGC31887;WI-19902 FLJ38984 OTTHUMP00000221719;UPF0500 protein C1orf216;hypothetical protein LOC127703 protein-coding ENSG00000142686 HGNC:26800 08798 PROVISIONAL 1606656 C1orf222 chromosome 1 open reading frame 222 1 p36.33 1853390 1859368 - 12477932 339457 H7C4E1;Q5T2D8;Q69YW0 ABBA01016077;ABBA01016078;AL109917;AL137547;BC114926 AAI14927;CAH10703;Q69YW0 Hs.259619 MGC133181 hypothetical protein LOC339457;uncharacterized protein C1orf222 protein-coding HGNC:27917 14167 MODEL 1319257 C1orf21 chromosome 1 open reading frame 21 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 1 1 1 q25 157467104 157709101 + 184356150 184598155 + 184387016 184629021 + 6480464;8554872 11318611;12477932;14702039;15489334;16341674;16710414;17207965;8619474;9110174 81563 B1AKK6;Q9H246 ABBA01027734;ABBA01027735;ABBA01027736;AF035282;AF312864;AK056487;AK312062;AL078645;AL358152;AL445228;AL699720;AMYH02002291;AMYH02002292;AY258286;BC028567;BF575955;BG823539;BM793961;BQ431539;BX648959;CD000222;CH471067;CR627007;KF455093;KF455102;KF455118;NM_030806 AAG45338;AAH28567;AAP82231;ADQ32265;BAB71196;BAG34998;EAW91176;EAW91177;NP_110433;Q9H246 Hs.497159;Hs.744936 1644081;1647344;1650184;1659216;1667561;1671001;1684110;1692398;1692446;1693008;1706418;2160755;2184399;5092904;5093546 A009C04;A009Q28;AL009811;AL033847;AL033873;AL034231;D1S1846E;D1S1866E;D1S2249;G32403;G32782;RH26692;RH77882;SHGC-76052;SHGC-80787 PIG13 OTTHUMP00000033397;cell proliferation-inducing gene 13 protein;proliferation-inducing protein 13;uncharacterized protein C1orf21 protein-coding ENSG00000116667 HGNC:15494 12721 VALIDATED 2301261 C1orf226 chromosome 1 open reading frame 226 INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; afimoxifene 1 1 1 q23.3 135451762 135459674 + 162348696 162356608 + 162378906 162386818 + 6480464 11181995;12477932;14702039 400793 A1L170;F8W6W0 ABBA01047306;ABBA01047307;AI480219;AK023199;AK125122;AK293907;AL512785;AMYH02002038;BC127743;BC127744;CH471067;NM_001085375;NM_001135240 A1L170;AAI27744;AAI27745;BAG57292;EAW90702;NP_001078844;NP_001128712 Hs.447011 1710146;1779680;1779684;2126471;2169349 RH78970;SHGC-153658;SHGC-153662;SHGC-37330;SHGC-81561 FLJ13137;FLJ43132;FLJ55152 OTTHUMP00000228958;OTTHUMP00000228959;hypothetical protein LOC400793;uncharacterized protein C1orf226 protein-coding ENSG00000239887 HGNC:34351 VALIDATED 6480141 C1orf233 chromosome 1 open reading frame 233 FOUND IN integral component of membrane (inferred) 1 1 1 p36.33 1045618 1046671 + 1533388 1535476 - 1598008 1600096 - 12477932;24250222;8889548 643988 F2Z333 AB188495;ABBA01016056;ABBA01016057;ABBA01016058;ABBA01016059;ABBA01016060;ABBA01016061;ABBA01016062;AL691432;AMYH02000106;BC013276;BC070393;BU733865;NM_001242659 F2Z333;NP_001229588 Hs.528816 fibronectin type-III domain-containing transmembrane protein C1orf233;uncharacterized protein LOC643988 protein-coding ENSG00000228594 HGNC:42951 VALIDATED 1603331 C1orf229 chromosome 1 open reading frame 229 1 1 1 q44 220569764 220572019 - 247273462 247275719 - 247110160 247112417 - 388759 Q6ZS94 ABBA01031779;ABBA01031780;AK127619;AL390728;AMYH02003131;NM_207401 AAI56416;AAI72473;BAC87060;NP_997284;Q6ZS94 Hs.456511 5014051;5022200;5037552 D8S2278;D8S2279;L18426 FLJ45717 OTTHUMP00000228876;putative uncharacterized protein C1orf229 protein-coding ENSG00000221953 HGNC:33759 13511 PREDICTED 1342892 C1orf30 chromosome 1 open reading frame 30 140784 HGNC:17977 1606401 C1orf228 chromosome 1 open reading frame 228 1 1 1 p34.1 43423283 43474156 + 45140370 45191263 + 44674698 44725591 + 12477932;24250222 339541 C9J477;C9J579;C9JA22;C9JCY2;F8WDG2;H7C5J1;Q6PIY5 ABBA01050915;ABBA01050916;ABBA01050917;ABBA01050918;AL122004;AMYH02000918;AY254217;BC026115;BX112141;CH471059;NM_001145636;XM_005270805;XM_005270806;XM_006710603;XM_006710604;XR_246261;XR_246262;XR_246263;XR_246264 AAH26115;AAP80384;EAX07026;EAX07027;NP_001139108;Q6PIY5;XP_005270862;XP_005270863;XP_006710666;XP_006710667 Hs.173679 1676994;1692428;2183364 AL033863;RH98387;SHGC-74737 MGC33556;NCRNA00082;p40 OTTHUMP00000212437;hypothetical protein LOC339541;uncharacterized protein C1orf228 protein-coding ENSG00000198520 HGNC:34345 17525 VALIDATED 1603678 C1orf43 chromosome 1 open reading frame 43 ENCODES a protein that exhibits coenzyme binding (inferred); oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; disodium selenite; hydrogen peroxide 1 1 1 q21.2 127250901 127264989 - 154179183 154193273 - 154206707 154220797 - 6480464 11042152;11230159;12477932;15489334;16094384;16710414;17207965;18029348;21906983;21963094;22505724;23167344 25912 Q09GN0;Q9BWL3;X6R6F3;X6R6S3 ABBA01049475;ABBA01049476;AF077036;AF109185;AF529365;AJ243663;AJ243664;AJ243665;AK290583;AL117463;AL540989;AL590431;AMYH02001919;BC000152;BC001377;BC006514;BC008306;BC014391;BC088353;BG478941;BU072807;CD247026;CF123260;CH471121;CR457131;DB457727;DQ908899;DR007097;NM_001098616;NM_001297717;NM_001297718;NM_001297720;NM_001297721;NM_001297723;NM_015449;NM_138740;XM_005245077 AAD27769;AAH00152;AAH01377;AAH06514;AAH08306;AAH14391;AAH88353;AAQ09599;AAQ13494;ABI60896;ADQ31620;BAF83272;CAB55939;CAB65094;CAB65095;CAB65096;CAG33412;EAW53221;EAW53222;EAW53223;EAW53224;EAW53225;EAW53226;EAW53227;NP_001092086;NP_001284646;NP_001284647;NP_001284649;NP_001284650;NP_001284652;NP_056264;NP_620077;Q9BWL3;XP_005245134 Hs.287471 1735654;1739155;1848456;1850070;2138400;2147428;2171874;5016478;5037552 A002G29;D1S1842E;D1S1900E;D1S2274;D8S2279;D9S2048;GDB:434012;RH11751;RH12547 DKFZp586G1722;HSPC012;MGC111001;NICE-3;NS5ATP4;S863-3 HCV NS5A-transactivated protein 4;OTTHUMP00000034197;OTTHUMP00000034198;OTTHUMP00000034199;OTTHUMP00000034200;OTTHUMP00000034201;OTTHUMP00000034202;hepatitis C virus NS5A-transactivated protein 4;hypothetical protein LOC25912;uncharacterized protein C1orf43 protein-coding ENSG00000143612 HGNC:29876 16636 VALIDATED 1349502 C1orf5 chromosome 1 open reading frame 5 10759 HGNC:1236 1312112 C1orf35 chromosome 1 open reading frame 35 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH 5-fluorouracil; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 1 1 1 q42.13 201478660 201481254 - 228288428 228293112 - 228100727 228103441 - 6480464 12477932;12545221;14702039;15489334;15635413;16189514;16196087;16710414;19060904;21044950;21139048;21145461;21832049;23602568;24250222;24654937;24778252 79169 Q9BU76 ABBA01005830;AK123377;AK126087;AL136379;AMYH02002837;AY137773;BC002843;BC062585;CH471098;NM_024319;XR_247040 AAH02843;AAH62585;AAN15215;ACE87052;ACE87734;BAC85598;BAC86431;EAW69837;EAW69838;EAW69839;NP_077295;Q9BU76 Hs.445952 1644601;2186213 SHGC-76454;SHGC-76467 MGC4174;MMTAG2;hMMTAG2 OTTHUMP00000035918;multiple myeloma transforming 2;multiple myeloma tumor-associated protein 2 protein-coding ENSG00000143793 HGNC:19032 08512;10090 PROVISIONAL 7256452 C1orf234 chromosome 1 open reading frame 234 1 1 1 p36.12 21659454 21664468 - 23337327 23342343 - 23010834 23015850 - 729059 H3BTG2 ABBA01059859;ABBA01059860;AI652913;AL031428;AL355534;AMYH02000482;BX351337;BX377446;LN607851;NM_001242521 H3BTG2;NP_001229450 Hs.236896 uncharacterized protein C1orf234;uncharacterized protein LOC729059 protein-coding HGNC:44651 VALIDATED 1350429 C1orf50 chromosome 1 open reading frame 50 INTERACTS WITH elemental selenium; methyl methanesulfonate; paracetamol 1 1 1 p34.2 41514848 41523350 + 43232916 43241413 + 42767245 42775742 + 737633;6480464 12477932 15146197;15489334;16344560;21139048;24250222;24816145;8889548 79078 B4DSR2;Q9BV19;R4GMT4 AA741374;ABBA01050974;AC098484;AMYH02000885;BC001508;BC001711;BE464824;BM702424;CH471059;CN256666;DA684965;NM_024097;NR_040733 AAH01508;AAH01711;ADZ15681;EAX07138;EAX07139;EAX07140;EAX07141;NP_077002;Q9BV19 Hs.148845 1678937;1732888;1773511;2169331 D1S1307;RH92982;SHGC-2670;SHGC-74725 MGC955 OTTHUMP00000008833;hypothetical protein LOC79078;uncharacterized protein C1orf50 protein-coding ENSG00000164008 HGNC:28795 14714 VALIDATED 1346906 C1orf27 chromosome 1 open reading frame 27 ENCODES a protein that exhibits oxidoreductase activity (inferred); zinc ion binding (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; isotretinoin 1 1 1 q25 159455598 159501227 + 186344890 186390503 + 186375758 186421371 + 6480464 11318611;12477932;12868032;15718105;16344560;18187418;21139048;21706016;24250222 54953 Q5SWX8 ABBA01027704;AF214011;AK000171;AK000512;AK026086;AK298107;AL596220;AMYH02002312;AY854248;BC003397;CH471067;DB116803;DQ323046;DQ529299;NM_001164245;NM_001164246;NM_017847;XM_006711399;XM_006711400;XR_241088;XR_241089;XR_426787 AAH03397;AAL56643;AAW30011;ABC50092;ABF71985;BAA91218;BAB15356;BAG60392;EAW91207;EAW91208;EAW91209;NP_001157717;NP_001157718;NP_060317;Q5SWX8;XP_006711462;XP_006711463 Hs.371210 1337574;1768340;1772829;1848387;2126689;2130548;2150456;2187072;2219226;2220362 D1S2138;OCLM__6101;RH17859;RH46918;RH67877;SHGC-34113;SHGC-76036;UniSTS:480712;UniSTS:495134;WI-22547 FLJ20505;ODR4;TTG1;hODR-4;odr-4 LAG1-interacting protein;OTTHUMP00000033583;odorant response abnormal 4;protein odr-4 homolog;transactivated by recombinant transforming growth factor beta;transactivated by transforming growth factor beta protein 1 protein-coding ENSG00000157181 HGNC:24299 12723 609335 VALIDATED 1606237 C1orf54 chromosome 1 open reading frame 54 FOUND IN extracellular region (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; cadmium atom 1 1 1 q21.2 123360914 123369066 + 150244687 150253335 + 150272284 150280924 + 6480464 11076863;12477932;14702039;15489334;15489336;16381901;16710414 79630 Q5TB16;Q8WWF1 AA095731;ABBA01049330;ABBA01049331;AC242988;AI004135;AI342055;AK026874;AL138795;AX770987;AX770997;AX770998;AX770999;AX970584;BC017761;CH471121;DA358536;NM_001301039;NM_001301040;NM_001301041;NM_001301042;NM_024579;T82829;W93038;XM_005245488;XM_006711538;XM_006711539;XM_006711540 AAH17761;BAB15579;CAE01160;CAE01161;CAE01162;CAE01280;CAE01282;CAF15692;CAI22814;CAI22815;CAL37698;CAL37836;CAL37944;CAL38127;CAL38340;CAL38425;CAL38495;CAL38528;CAL38617;EAW53568;EAW53569;NP_001287968;NP_001287969;NP_001287970;NP_001287971;NP_078855;Q8WWF1;XP_005245545;XP_006711601;XP_006711602;XP_006711603 Hs.91283 FLJ23221 OTTHUMP00000014530;OTTHUMP00000014531;OTTHUMP00000014532;hypothetical protein LOC79630;uncharacterized protein C1orf54 protein-coding ENSG00000118292 HGNC:26258 08020 VALIDATED 1606868 C1orf53 chromosome 1 open reading frame 53 INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; benzo[a]pyrene 1 1 1 q31.3 170994586 170999402 + 197871682 197876497 + 197902552 197907367 + 6480464 12477932;15489334;15897902;16710414;23128233;24250222 388722 H7C0U6;Q5VUE5 ABBA01027585;AL590115;AMYH02002440;BC038214;BC130608;BC130634;CH471067;NM_001024594 AAI30609;AAI30635;ADR82820;EAW91286;NP_001019765;Q5VUE5 Hs.61329 OTTHUMP00000033684;OTTHUMP00000033685;hypothetical protein LOC388722;uncharacterized protein C1orf53 protein-coding ENSG00000203724 HGNC:30003 18611 VALIDATED 1346419 C1orf52 chromosome 1 open reading frame 52 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; cyclosporin A 1 1 1 p22.3 83960049 83969784 - 85715636 85725355 - 85249953 85259672 - 737633;6480464 12477932 11891061;15489334;15592455;16344560;16710414;17081983;19773279;20360068;20467438;21139048;21890473;21963094;24816145 148423 Q8N6N3 ABBA01045640;AF387611;AF387612;AK126929;AL590113;AMYH02001382;AY486331;AY486332;BC029538;BX118798;CH471097;DA214065;NM_198077;NR_024113 AAH29538;AAL91352;AAL91353;AAS57906;AAS57907;BAG54401;EAW73209;NP_932343;Q8N6N3 Hs.26226 1648111 SHGC-75084 FLJ44982;RP11-234D19.1;gm117 BCL10-associated gene protein;OTTHUMP00000011650;UPF0690 protein C1orf52;hypothetical protein LOC148423 protein-coding HGNC:24871 16637 VALIDATED 1603359 C1orf64 chromosome 1 open reading frame 64 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; coumestrol; quercetin 1 1 1 p36.13 14810626 14813075 + 16330731 16333184 + 16004236 16006685 + 6480464;8554872 12477932;15489334;16710414;21832049;22341523 149563 Q8NEQ6 ABBA01004687;AK127425;AL355994;AMYH02000377;BC017946;CH471167;NM_178840 AAH17946;BAG54501;EAW51759;NP_849162;Q8NEQ6 Hs.29190 ERRF;MGC24047;RP11-5P18.4 ER-related factor;OTTHUMP00000011115;putative uncharacterized protein C1orf64;uncharacterized protein C1orf64 protein-coding HGNC:28339 14492 PROVISIONAL 1603033 C1orf56 chromosome 1 open reading frame 56 FOUND IN cytoplasm; nucleus; INTERACTS WITH all-trans-retinoic acid 1 1 1 q21.3 124135566 124139206 + 151020259 151023896 + 151046979 151051420 + 6480464 12477932;12975309;22133874;24094886 54964 Q9BUN1 ABBA01049368;AK000526;AK315680;AL590133;AMYH02001870;AY358436;BC002469;CH471121;NM_017860;XM_006711401 AAH02469;AAQ88802;BAA91231;BAG38045;EAW53481;EAW53482;NP_060330;Q9BUN1;XP_006711464 Hs.549171 1674806;1687191;1697834;1770794;1851755 RH102442;RH93368;SHGC-57518;SHGC-57939;WI-17680 FLJ20519;MENT;RP11-316M1.9 OTTHUMP00000033119;hypothetical protein LOC54964;methylated in normal thymocytes protein;uncharacterized protein C1orf56 protein-coding ENSG00000143443 HGNC:26045 08625 PROVISIONAL 1603881 C1orf67 chromosome 1 open reading frame 67 ENCODES a protein that exhibits ATP binding (inferred); microtubule motor activity (inferred); INVOLVED IN metabolic process (inferred); microtubule-based movement (inferred); FOUND IN cilium (inferred); cytoplasm (inferred); dynein complex (inferred) q42.12 6480464 12477932;15146197 200095 AC093560;AI076810;AL590547;BC017415;BC042869;BC119716;BC119717;CH471098;CN257875;NM_144989 AAI19717;AAI19718;CAH73045;EAW69735;EAW69740;NP_659426;Q0VDD8 Hs.133977 MGC149665;MGC149666;MGC27277;MGC51214 protein-coding HGNC:28411 1601890 C1orf81 chromosome 1 open reading frame 81 q32.1 647215 AC099756;DQ983818;XM_930255;XM_930256;XM_940946 XP_935348;XP_935349;XP_946039 Hs.576503 1848272 AL009556 protein-coding HGNC:33122 1607071 C1orf61 chromosome 1 open reading frame 61 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; cadmium dichloride; calcitriol 1 1 1 q22 129446984 129472113 - 156374048 156426441 - 156404256 156456591 - 6480464;8554872 10995546;12477932;14702039;19922823;22589738;23012322 10485 H0Y3T1;H3BLW3;Q13536;Q86W69;X6R5L4 ABBA01016658;AK095622;AK095626;AL139130;AL139412;AMYH02001971;BC010558;BC016405;BC050448;BC050741;BC054045;BC059943;BC107686;BC128199;BC128200;BC141918;BC141919;CH471121;NM_006365;U49857;XM_005244832;XM_006711117;XM_006711118;XM_006711119;XR_426755 AAA93029;AAH50448;AAH59943;AAI52850;AAI56769;BAC04592;EAW52956;NP_006356;Q13536;XP_005244889;XP_006711180;XP_006711181;XP_006711182 Hs.380027 1659756;1694598;2111139;2135449;2147905;2158073 A002A24;D1S367E;G43296;RH12034;RH70654;STS-D51616 CROC4;FLJ38303;RP11-139I14.3 OTTHUMP00000029020;OTTHUMP00000029024;contingent replication of cDNA 4;contingent replication of cDNA-4;protein CROC-4;transcriptional activator of the c fos promoter;transcriptional activator of the c-fos promoter protein-coding ENSG00000125462 HGNC:30780 09899 PROVISIONAL 1603567 C1orf84 chromosome 1 open reading frame 84 1 1 p34.2 42137708 42154717 + 43855556 43872565 + 10737800;12477932;14702039;15028280 149469 AK091821;AL139289;AL583862;BC017576;BC051343;BF926328;BF927604;BU101724;NM_001012961 AAH17576;BAC03755;CAI23383;CAI23384;NP_001012979 Hs.711213 FLJ34502;RP11-506B15.1;SZT2A OTTHUMP00000008576;OTTHUMP00000008577;OTTHUMP00000205510;hypothetical protein LOC149469;seizure threshold 2 homolog A protein-coding HGNC:27144 14085 VALIDATED 1602382 C1orf68 chromosome 1 open reading frame 68 FOUND IN extracellular vesicular exosome 1 1 1 q21.3 125770080 125770987 + 152691998 152692905 + 152719522 152720429 + 11181995;11698679;16710414;17562024;20200978;20360068;21139048;9344646 100129271 Q5T750 ABBA01049425;AC246972;AF005081;AL353779;CH471121;CU446285;CU457096;NM_001024679 AAB83961;EAW53369;NP_001019850;Q5T750 Hs.601077 LEP7;XP32 OTTHUMP00000014332;skin-specific protein (xp32);skin-specific protein 32 protein-coding ENSG00000198854 HGNC:29468 VALIDATED 1606707 C1orf74 chromosome 1 open reading frame 74 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cyclosporin A; vincristine 1 1 1 q32.2 183186556 183188784 - 209955662 209957890 - 209782317 209784545 - 6480464;8554872 12477932;14702039;15489334;16710414;24250222 148304 Q96LT6 ABBA01048213;AK057807;AL022398;AMYH02002600;BC039719;CH471100;NM_152485 AAH39719;BAB71584;EAW93440;NP_689698;Q96LT6 Hs.497642 1683289;1689604;2167949 RH67815;RH98921;SHGC-76222 FLJ25078 OTTHUMP00000034651;UPF0739 protein C1orf74;hypothetical protein LOC148304 protein-coding HGNC:26319 08682 PROVISIONAL 1602078 C1orf85 chromosome 1 open reading frame 85 ENCODES a protein that exhibits ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity; ligand-dependent nuclear receptor transcription coactivator activity; sequence-specific DNA binding transcription factor activity; INVOLVED IN intracellular receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; lysosome; nucleus; INTERACTS WITH atrazine; cadmium atom; cadmium dichloride 1 1 1 q22 129335452 129338417 - 156262478 156265480 - 156292687 156295689 - 6480464;8554872 12477932;12975309;15231747;15342556;16303743;16341674;16344560;18021396;19489740;19556463;20139978;8889548 112770 Q8WWB7;V9GXZ9;V9GYX8;V9GYY1;V9GYZ8;X6R6A3 ABBA01016664;AK075349;AK296157;AL528533;AL589685;AMYH02001969;AW293248;AY358450;BC011575;BC018757;BC036340;BM833126;BP302818;CA428514;CH471121;CN479212;CS051139;CS072256;CX756681;DA537642;N72839;NM_001256604;NM_001256605;NM_001256608;NM_001256609;NM_144580;XM_005244864;XR_426762 AAH11575;AAH18757;AAH36340;AAQ88815;BAC11561;BAG58896;CAI72065;CAI93394;EAW52968;EAW52969;NP_001243533;NP_001243534;NP_001243537;NP_001243538;NP_653181;Q8WWB7;XP_005244921 Hs.202522 1652543;1686360;2113474 D1Z10;RH69259;RH92907 MGC31963;NCU-G1;RP11-443G18.2 OTTHUMP00000021233;kidney lysosomal membrane protein;kidney predominant protein NCU-G1;lysosomal protein NCU-G1 protein-coding ENSG00000198715 HGNC:29436 14544 VALIDATED 1602983 C1orf87 chromosome 1 open reading frame 87 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH hydroquinone O-beta-D-glucopyranoside; kojic acid 1 1 1 p32.1 58744771 58828195 - 60456066 60539442 - 59990394 60073770 - 6480464;8554872 12477932;21832049;24024966 127795 C9JPP7;Q8N0U7 ABBA01074644;AC097066;AK124828;AK126061;AMYH02001109;AMYH02001110;BC027878;BC042203;CD707889;CH471059;NM_152377 AAH27878;AAH42203;BAC86420;BAG54102;EAX06609;EAX06610;NP_689590;Q8N0U7 Hs.47385 1653982;1671137;1692212;1692894;1727343 AL009480;AL009881;AL033761;AL034159;G63079 CREF;FLJ44073;MGC34837 OTTHUMP00000010551;hypothetical protein LOC127795;uncharacterized protein C1orf87 protein-coding ENSG00000162598 HGNC:28547 11338 VALIDATED 1604208 C1orf86 chromosome 1 open reading frame 86 ENCODES a protein that exhibits K63-linked polyubiquitin binding; polyubiquitin binding; ubiquitin binding; INVOLVED IN cellular response to DNA damage stimulus; interstrand cross-link repair; translesion synthesis; FOUND IN cell junction; chromosome; Fanconi anaemia nuclear complex; INTERACTS WITH atrazine; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p36.33 453322 477308 + 2115899 2144159 - 2184460 2212720 - 6480464 11181995;12136098;12477932;14702039;15146197;16344560;19322201;22266823;22396592;22705371;24250222;24910428;8889548 199990 H7C2E6;H7C361;H7C3A6;Q6NZ36;Q6ZRT9;Q7Z4P6 ABBA01016086;ABBA01016087;AF461903;AF469129;AJ327662;AK054818;AK055593;AK093927;AK125445;AK126870;AK127994;AK128507;AL545931;AL590822;AMYH02000116;AMYH02000117;AMYH02000118;BC041041;BC066360;BC078145;BC103992;BG825658;BM127377;BM674927;BM682341;BU192678;BU542153;BU626113;CH471183;CN397640;DA596011;NM_001146310;NM_001256945;NM_001256946;NM_001256947;NM_001282670;NM_001282671;NM_001282672;NM_001282673;NM_182533;NR_046427;XM_006710419;XM_006710420;XM_006710421 AAH66360;AAI03993;AAP97719;AAQ04817;BAB70965;BAC04254;BAC86730;BAC87220;EAW56125;EAW56126;EAW56127;EAW56128;EAW56129;NP_001139782;NP_001243874;NP_001243875;NP_001243876;NP_001269599;NP_001269600;NP_001269601;NP_001269602;NP_872339;Q6NZ36;XP_006710482;XP_006710483;XP_006710484 Hs.107101 1334568;1667480;1679804;1699590;1758967;1769715;2177973;5014003;5015619;5015961;5022322;5022578;5022651;5037552;5112017;5125079;7183686 D11S2560;D11S2921;D11S3114;D15S1477;D17S1136;D1S1423;D1S243;D8S2279;G44365;RH103396;RH16310;RH98469;SHGC-3360;SHGC-74104;SHGC-74107;SHGC-74115 FAAP20;FLJ30256;FLJ31031;FLJ36608;FLJ43456;FLJ46660;FP7162;MGC120153;RP11-181G12.3 Fanconi anemia-associated protein of 20 kDa;OTTHUMP00000039102;OTTHUMP00000196439;OTTHUMP00000196440;OTTHUMP00000196441;OTTHUMP00000196443;OTTHUMP00000196444;hypothetical protein LOC199990;uncharacterized protein C1orf86 protein-coding ENSG00000162585 HGNC:26428 08707 615183 VALIDATED 1602848 C1orf94 chromosome 1 open reading frame 94 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH dioxygen (ortholog) 1 1 1 p34.3 32904826 32956861 + 34632624 34684732 + 34166883 34219131 + 6480464;8554872 12477932;14702039;15146197;16189514;16344560;16713569;16751776;17207965;22949513;23088713;24722188 84970 Q6P1W5 AA725646;ABBA01023367;ABBA01023368;AC115286;AK123355;AMYH02000743;AMYH02000744;AW117410;BC007637;BC064845;CH471059;CN366753;DA714248;DB456109;NM_001134734;NM_032884 AAH07637;AAH64845;ADQ32171;BAG53893;EAX07445;EAX07446;NP_001128206;NP_116273;Q6P1W5 Hs.194610 1338171;1713513;1752649;2134459;2151553 AFMb043xh1;D1S2613;G16319;RH120241;SHGC-106497 MGC15882 OTTHUMP00000004131;OTTHUMP00000235371;hypothetical protein LOC84970;uncharacterized protein C1orf94 protein-coding ENSG00000142698 HGNC:28250 11310 VALIDATED 1605215 C1orf95 chromosome 1 open reading frame 95 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; amiodarone 1 1 1 q42.12 199927428 199984233 + 226736501 226796915 + 226548800 226609214 + 6480464;8554872 11076863;11230166;15489336;16381901;16710414;20379614;8619474;9110174 375057 F8WD64;Q69YW2 ABBA01009636;ABBA01009637;AF035308;AL134612;AL137507;AL357122;AL359704;AL365444;AMYH02002818;NM_001003665 AAI41660;CAH10697;CAL38625;NP_001003665;Q69YW2 Hs.116827 1643632;1699822;1727339;1732910;1754395;1761731;1778334;2140226;2162443;2166507;2170042 D1S1320;D1S1836E;D1S2578;G63077;RH103518;SHGC-132406;SHGC-145705;SHGC-2930;STS-Z40703;WI-13390;WI-15617 DKFZp761P211;RP11-9C4.1 OTTHUMP00000035707;hypothetical protein LOC375057;spec3-like;uncharacterized membrane protein C1orf95 protein-coding ENSG00000203685 HGNC:30491 16821 VALIDATED 1346671 C1QB complement component 1, q subcomponent, B chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the B-chain polypeptide of human complement subcomponent C1q [provided by RefSeq, Jul 2008] 1 1 1 p36.12 21304397 21312691 + 22979682 22988130 + 22653189 22661637 + 1599518;1599508;1599509;1599510;1580863;6480464;6907045;7240710;8699517;8554872 1362796;16345062;16677633;16934480 10471215;10504397;10882776;11318594;12396016;12477932;1249422;12645945;12847249;12960167;1370572;15034050;1537612;15489334;15709773;16289162;16566583;16710414;1706597;1744579;17513176;18174230;18505047;1875953;19344414;19423540;19493541;20139276;20237496;20379614;20406964;20438785;20528885;21698244;21862594;21951915;21988832;22740328;23607884;23650384;23720782;23750785;24457600;24739385;2894352;3000358;3180845;486087;6208566;6981411;708376;7240;7507842;7642209;7739575;7939135;814163;8245486;8252810;9184145;9443108;9444979;9777412;9780209 713 D6R934;D6RGJ1;P02746 ABBA01059851;AL158086;AMYH02000478;BC008983;BQ711602;CH471134;K03430;L80036;M36278;NG_007283;NM_000491;X03084;XM_005245982 AAC41692;AAH08983;AAQ67338;ABM82457;ABM85646;CAA26880;EAW95019;EAW95020;EAW95021;NP_000482;P02746;XP_005246039 Hs.8986 1775112;1778347;1791586;1797334;2123915;2132363 C1QB_68.2;PMC115884P1;RH70806;RH78269;SHGC-74363;SHGC-74365 OTTHUMP00000002940;OTTHUMP00000002941;OTTHUMP00000217779;complement C1q subcomponent subunit B;complement component 1, q subcomponent, beta polypeptide;complement component C1q, B chain;complement subcomponent C1q chain B APPROVED protein-coding ENSG00000173369 HGNC:1242 00394 120570;613652 REVIEWED 1315493 C1QA complement component 1, q subcomponent, A chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. [provided by RefSeq, Jul 2008] 1 1 1 p36.12 21287826 21290883 + 22963118 22966175 + 22636625 22639682 + 1600549;1580863;6480464;6907045;7240710;8699517;8554872 8840296 10490997;10504397;10528211;10878362;11318594;11714829;12396016;12477932;1249422;12630757;12645945;12847249;12960167;1431141;15034050;15174051;15231748;1537612;15489334;15878871;16046396;16335952;16465510;16566583;16710414;1706597;17207965;1744579;17929239;18029348;18054386;18174230;18406463;18504288;18505047;1875953;18927313;19423540;19440201;19484134;19493541;19656971;19896716;19913121;20008834;20139276;20237496;20332777;20406964;20438785;20496011;20528885;20560256;20628086;21134100;21159384;21256764;21343881;21382349;21429584;21862594;21951915;21968398;21988832;22236909;22260551;22321011;22356764;22472776;22700724;22740328;22879587;23080069;23086952;23607884;23650384;23720782;2372546;23991234;24053688;24331529;24395916;24591625;24739385;486087;6981115;6981411;7240;7507842;7642209;7739575;7939135;814163;8172568;8195709;8245486;8252810;8417122;8778019;9013976;9052718;9184145;9223728;9225968;9443108;9444979;9461517;9476117;9777412;9780209 712 P02745;X6RLJ0 ABBA01059851;AF135157;AF260332;AK311980;AL158086;AMYH02000478;AY789471;BC030153;BC071986;BG548439;BX369252;CH471134;NG_007282;NM_015991 AAD32626;AAG44663;AAH30153;AAH71986;AAV40828;ACE87827;ACT64581;ADQ32158;BAG34919;EAW95014;EAW95015;NP_057075;P02745 Hs.632379 1656224;1775129;1795226 C1QA_66;D1S3273;WI-8760 OTTHUMP00000002936;OTTHUMP00000037919;OTTHUMP00000197085;complement C1q subcomponent subunit A;complement component 1, q subcomponent, alpha polypeptide;complement component C1q, A chain APPROVED protein-coding ENSG00000173372 HGNC:1241 00393 120550;613652 REVIEWED 1347949 C1QBPP complement component 1, q subcomponent binding protein, pseudogene 21 21 21 q21.1 6300879 6301886 - 21131434 21132441 - 19759120 19760127 - 10830953 54098 ABBA01057150;AMYH02037581;AP000568;NG_000929 pseudo HGNC:1244 INFERRED 1342690 C1QBP complement component 1, q subcomponent binding protein The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 5352471 5358843 - 5336099 5342471 - 5432779 5439151 - 1580863;6480464 10022843;10097078;10747014;10823864;10831594;11278463;11290596;11350968;11549288;11773076;11859136;11866440;11870091;12220632;12443542;12477932;12538033;12574814;12833064;14559993;14583623;14667819;15031724;15163734;15231747;15243141;15324660;15467913;15489334;16039650;16140380;16164755;16177118;16196087;16212417;16455055;16537587;16641292;16713569;16721827;16871385;16893067;17314511;17550899;17620012;17620599;17676665;17881511;17892212;17907801;17979178;18172692;1830244;18358546;18460468;18538737;18676636;18757437;18781797;19004836;19149558;19164550;19190731;19423540;19454010;19473882;19523114;19565630;19608861;19710015;19738201;19828637;19836239;19913121;20020773;20100866;20186120;20360068;20406964;20438785;20617170;20628086;20877624;21081666;21139048;21145461;21156793;21205079;21248045;21536672;21536856;21559373;21627988;21725590;21726808;21890473;21906983;21988832;22008525;22101277;22114354;22118674;22145905;22268729;22354994;22451658;22700724;22771308;22863883;22904065;22939629;22952844;22960332;23246001;23264621;23378602;23402259;23438482;23443559;23473034;23667531;23692256;2372546;23798571;23874603;23924515;23929393;23990920;24174616;24244333;24250222;24255178;24390342;24390425;24457600;25027693;7778269;8189522;8195709;8262387;8567680;8626563;8662673;8710908;9284938;9461517;9721222 708 I3L3B0;I3L3Q7;Q07021 ABBA01054814;AC004148;AF275902;AF338439;AJ297362;AK291516;AMYH02032859;BC000435;BC013731;BT019898;BT019899;CH471108;DQ372108;L04636;NM_001212;X75913 AAA16315;AAF78763;AAH00435;AAH13731;AAK26580;AAV38701;AAV38702;ABC79624;ABM82257;ABM84292;ABM85440;ABM87682;BAF84205;CAA53512;CAB95947;EAW90335;EAW90336;EAW90337;NP_001203;Q07021 Hs.555866 1853151;2148420;2184685;2217086;5123392 C1QBP_3122;D17S2014;RH78721;STS-R63801;WI-18770 GC1QBP;HABP1;SF2p32;gC1Q-R;gC1qR;p32;p33 ASF/SF2-associated protein p32;C1q globular domain-binding protein;complement component 1 Q subcomponent-binding protein, mitochondrial;glycoprotein gC1qBP;hyaluronan-binding protein 1;mitochondrial matrix protein p32;splicing factor SF2-associated protein APPROVED protein-coding ENSG00000108561 HGNC:1243 03168 601269 REVIEWED 1350440 C1QL2 complement component 1, q subcomponent-like 2 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN protein oligomerization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN collagen trimer (inferred); extracellular region (inferred); INTERACTS WITH atrazine; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 2 2 2 q14.2 113239899 113242551 - 119913819 119916471 - 119156243 119158895 - 1580863;6480464;8554872 12477932;18783346;20237496 165257 Q7Z5L3 ABBA01045930;ABBA01045931;AC016673;AF525315;AMYH02004643;BC043189;BC067896;BC142965;CH471103;CS057609;NM_182528;XM_006712346 AAP80787;CAI77590;EAW95208;NP_872334;Q7Z5L3;XP_006712409 Hs.433493 C1QTNF10;CTRP10 C1q and tumor necrosis factor related protein 10;C1q and tumor necrosis factor-related protein 10;C1q-domain containing protein;C1q/TNF-related protein 10;OTTHUMP00000203593;complement C1q-like protein 2;gliacolin-like protein-coding ENSG00000144119 HGNC:24181 12713 614330 VALIDATED 1315664 C1QC complement component 1, q subcomponent, C chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. A deficiency in C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 21294833 21299316 + 22969969 22974603 + 22643625 22648110 + 1580863;6480464;6907045;8699517;8554872;7240710 10504397;10961870;11076863;11318594;12396016;12477932;1249422;12645945;12847249;12960167;14702039;15034050;15174051;15353007;15489334;15489336;16344560;16381901;16566583;16710414;1706597;1744579;18029348;18174230;18504288;18505047;18703056;1875953;18838169;19115936;19344414;19423540;19493541;19710097;19790049;19913121;20139276;20237496;20406964;20438785;20528885;20628086;20833838;21862594;22264191;22740328;23607884;23650384;23720782;23750785;24157463;3180845;486087;7507842;7590886;7642209;7739575;7939135;814163;8245486;8252810;8630118;9443108;9777412 714 P02747 ABBA01059851;AF087892;AK057792;AK130613;AK226152;AL158086;AMYH02000478;BC009016;BG060138;CB995661;CH471134;DA849505;NG_007565;NM_001114101;NM_172369 AAH09016;AAP97191;BAB71575;CAL37759;CAL38110;CAL38396;EAW95016;EAW95017;EAW95018;NP_001107573;NP_758957;P02747 Hs.467753 2126558;2162810 RH12869;SHGC-74373 C1Q-C;C1QG;FLJ27103 OTTHUMP00000002932;OTTHUMP00000002933;OTTHUMP00000037922;complement C1q subcomponent subunit C;complement component 1, q subcomponent, gamma polypeptide APPROVED protein-coding ENSG00000159189 HGNC:1245 00395 120575;613652 REVIEWED 1314427 C1QL1 complement component 1, q subcomponent-like 1 FOUND IN collagen trimer (inferred); cytoplasm (inferred); extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); atrazine 17 17 17 q21 39747598 39756182 - 43037061 43045644 - 44959693 44968276 - 1580863;6480464 12477932;15489334;19275900;19322201;20237496;23725790;9878755 10882 O75973 ABBA01028341;AC015936;AF095154;AF410771;AMYH02033505;BC008798;CH471178;NM_006688 AAC64186;AAH08798;AAK95248;EAW51563;NP_006679;O75973 Hs.134012 C1QRF;C1QTNF14;CRF C1q and tumor necrosis factor-related protein 14;C1q-related factor;C1q/TNF-related protein 14;OTTHUMP00000222953 protein-coding ENSG00000131094 HGNC:24182 12712 611586 PROVISIONAL 1604955 C1QL4 complement component 1, q subcomponent-like 4 FOUND IN collagen trimer (inferred); extracellular region (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 12 12 12 q13.12 48519505 48524276 - 49726200 49730971 - 49332417 49337188 - 6480464 12477932;15489334 338761 Q86Z23 ABBA01031521;ABBA01031522;AC125611;AF466366;AMYH02026445;AX925776;BC110812;CH471111;NM_001008223 AAI10813;AAO33387;CAF02403;EAW58065;NP_001008224;Q86Z23 Hs.380386 C1QTNF11;CTRP11;MGC131708 C1q and tumor necrosis factor-related protein 11;C1q/TNF-related protein 11;OTTHUMP00000241396;complement C1q-like protein 4 protein-coding ENSG00000186897 HGNC:31416 17350 615229 PROVISIONAL 1348725 C1QTNF2 C1q and tumor necrosis factor related protein 2 ENCODES a protein that exhibits identical protein binding (inferred); receptor binding (inferred); INVOLVED IN activation of MAPK activity (inferred); positive regulation of fatty acid oxidation (inferred); positive regulation of glucose import (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN collagen trimer (inferred); extracellular space (inferred); INTERACTS WITH 1-nitropyrene; aflatoxin B1; trichostatin A 5 5 5 q33.3 155807245 155830113 - 159774761 159797657 - 160347754 160370650 - 1580863;6480464;8554872 12477932;12975309;15489334;23643386 114898 Q9BXJ5 ABBA01044220;ABBA01044221;AC091842;AC112191;AF329836;AMYH02012605;AY358839;BC011699;BC054506;CH471062;NM_031908;XM_005265815;XM_005265816 AAH11699;AAH54506;AAK17960;AAQ89198;ABM84187;ABM87589;EAW61561;NP_114114;Q9BXJ5;XP_005265872;XP_005265873 Hs.110062 1683771;2117440;5015961;5094934 C1QTNF2;D15S1477;RH94108;SHGC-57747 CTRP2;zacrp2 OTTHUMP00000160840;complement C1q tumor necrosis factor-related protein 2;complement-c1q tumor necrosis factor-related protein 2 protein-coding ENSG00000145861 HGNC:14325 12715 VALIDATED 7244829 C1QTNF1-AS1 C1QTNF1 antisense RNA 1 17 17 17 73613517 73621920 - 77015291 77023737 - 79019209 79027655 - 16344560 100507410 ABBA01002902;AC073624;AI031573;AMYH02034080;BC039683;DA938488;KF456331;LK938157;LK938158;NR_040018;NR_040019 Hs.666723 1338130;1699854;1759661 D17S1847;RH103534;SHGC-151249 ncrna ENSG00000265096 HGNC:44351 VALIDATED 7367995 C1QTNF3-AMACR C1QTNF3-AMACR readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring C1q and tumor necrosis factor related protein 3 (C1QTNF3) and alpha-methylacyl-CoA racemase (AMACR) genes on chromosome 5. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus not likely to produce a protein product. [provided by RefSeq, Mar 2011] 5 5 p 33987091 34035863 - 33986986 34124528 - 8554872;6480464 20967262 100534612 AB209261;ABBA01066761;ABBA01066762;ABBA01066763;AC139783;AC139792;AMYH02011144;NR_037951 BAD92498 Hs.171929 2137405 WI-16117 ncrna HGNC:49198 VALIDATED 1350694 C1QTNF1 C1q and tumor necrosis factor related protein 1 ENCODES a protein that exhibits collagen binding; INVOLVED IN negative regulation of platelet activation; negative regulation of platelet aggregation; positive regulation of aldosterone secretion; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; integral component of plasma membrane; INTERACTS WITH (+)-catechin; cyclosporin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q25.3 73618468 73644096 + 77019016 77045870 + 79022934 79049788 + 1580863;6480464;8554872 12409230;12477932;12975309;14702039;15489334;16189514;16195328;16303743;16344560;16386877;16713569;16806199;18171693;18783346;18842294;21078624;23000311;23383108 114897 Q9BXJ1 ABBA01002902;AC073624;AF232905;AF329840;AJ272138;AK055541;AK075175;AK172767;AK292034;AMYH02034080;AY358424;BC021553;CD250839;CH471099;CQ764845;CQ783254;DA877694;DA910618;DB126803;KF456330;KF456331;NM_030968;NM_153372;NM_198593;NM_198594;NR_049769;XM_006721663;XM_006721664;XM_006721665;XM_006721666;XM_006721667 AAG44303;AAH21553;AAK17964;AAQ88790;ABM83468;ABM86679;BAB70947;BAC11451;BAD18750;BAF84723;CAC20425;CAF32794;CAF86457;EAW89557;EAW89558;NP_112230;NP_699203;NP_940995;NP_940996;Q9BXJ1;XP_006721726;XP_006721727;XP_006721728;XP_006721729;XP_006721730 Hs.201398;Hs.741602 1338130;1649916;1759661 D17S1847;D17S1987;SHGC-151249 CTRP1;FLJ90694;GIP;ZSIG37 G protein coupled receptor interacting protein;complement C1q tumor necrosis factor-related protein 1;g protein-coupled receptor-interacting protein protein-coding ENSG00000173918 HGNC:14324 610365 VALIDATED 1322092 C1QL3 complement component 1, q subcomponent-like 3 INVOLVED IN regulation of synapse organization (inferred); FOUND IN collagen trimer (inferred); extracellular region (inferred); INTERACTS WITH cadmium atom; copper(2+) sulfate; silicon dioxide 10 10 10 p13 16488949 16497211 - 16555742 16564004 - 16513743 16522005 - 6480464 10862616;12477932;14702039;15164054;21378161 389941 Q5VWW1 ABBA01034568;AK094686;AL353576;AL360230;AMYH02022236;AMYH02022237;BC127716;BC127717;CH471072;CS019532;NM_001010908 AAI27717;AAI27718;AAI60038;CAI58841;EAW86225;NP_001010908;Q5VWW1 Hs.676792;Hs.745101 1655529;1688801;2218324 C1QL3_4481;RH48169;RH98481 C1QTNF13;C1ql;CTRP13;K100 C1q and tumor necrosis factor-related protein 13;C1q/TNF-related protein 13;OTTHUMP00000019215;complement C1q-like protein 3 protein-coding ENSG00000165985 HGNC:19359 16632 615227 VALIDATED 1312783 C1QTNF3 C1q and tumor necrosis factor related protein 3 INVOLVED IN cellular triglyceride homeostasis; fat cell differentiation; negative regulation of gene expression; FOUND IN extracellular vesicular exosome; membrane; extracellular space (ortholog); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; hydrogen peroxide 5 5 5 p13 33906383 33931740 - 34017963 34043371 - 34017858 34043266 - 6480464 11071891;12477932;12975309;14654242;14702039;16213490;16303743;17311679;17534697;18421280;19199708;19946888;20483475;20634891;20739398;20952387;22837306;23174996;24152681;24417980;24578384 114899 E9PGA6;Q9BXJ4 ABBA01066761;AC139783;AF173888;AF326976;AF329837;AK075533;AK094895;AK127389;AK295968;AK315921;AMYH02011144;AY358388;BC016021;BC112925;BC120990;BX483406;BX640995;CH471118;CS023766;CS051375;EU399231;EU399232;NM_030945;NM_181435 AAI12926;AAI20991;AAK17961;AAK70344;AAQ13635;AAQ88754;ABY86416;ABY86417;BAC11676;BAG54499;BAG58744;BAH14292;CAE45998;CAI59108;CAI72182;EAX10819;EAX10820;EAX10821;NP_112207;NP_852100;Q9BXJ4 Hs.171929 1645945;1657724;1693312;5015881;5022651 D11S2921;G42361;GDB:335751;STS-AA025644;WI-22131 C1ATNF3;CORS26;CTRP3;Corcs;Cors;Cors-26;FLJ37576 OTTHUMP00000115918;OTTHUMP00000219981;cartonectin;collagenous repeat-containing sequence 26 kDa protein;collagenous repeat-containing sequence of 26-kDa;complement C1q tumor necrosis factor-related protein 3;complement-c1q tumor necrosis factor-related protein 3;secretory protein CORS26 protein-coding HGNC:14326 12716 612045 VALIDATED 1318784 C1QTNF5 C1q and tumor necrosis factor related protein 5 This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013] 11 11 11 q23.3 116370323 116378054 - 119209644 119217383 - 119338934 119346673 - 1580863;6480464;7240710;8554872;8699517 11263980;12477932;12944416;12975309;14702039;15340161;15489334;16123441;16376663;16396496;16600989;17249553;17766366;18783346;18842294;19651784;20554618;20621834;22031510;22110650;22183337;22261190;22277927;22632162;22892318;23289492;23430573;7835092;9512423 114902 Q9BXJ0 AB055505;ABBA01039674;AF086482;AF329841;AJ862823;AK055132;AL110261;AMYH02025666;AP003396;AY358383;BC029485;BC036675;CH471065;DB534759;EF444994;NG_012235;NM_001278431;NM_015645 AAH29485;AAK17965;AAQ88749;ACA06014;CAB53702;CAH93522;EAW67481;EAW67482;NP_001265360;NP_056460;Q9BXJ0 Hs.632102 1847650;2219924 D11S869E;MFRP__6310 CTRP5;DKFZp586B0621;FLJ30570;LORD C1q TNF-alpha-related protein 5;complement C1q tumor necrosis factor-related protein 5;myonectin APPROVED protein-coding ENSG00000223953 HGNC:14344 10575 605670;608752 REVIEWED 1322231 C1QTNF4 C1q and tumor necrosis factor related protein 4 ENCODES a protein that exhibits cytokine activity (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH all-trans-retinoic acid; trichostatin A; valproic acid 11 11 11 q11 47753979 47758717 - 47611216 47615961 - 47589664 47594409 - 6480464 12477932;15489334;16094384;21658842;24366864 114900 E9PPZ5;Q9BXJ3 ABBA01060698;ABBA01060699;AC104942;AF329838;AMYH02024734;BC035628;BI756346;CH471064;CS208003;NM_031909 AAH35628;AAK17962;CAJ44927;EAW67893;NP_114115;Q9BXJ3 Hs.662633 CTRP4;ZACRP4 OTTHUMP00000234365;complement C1q tumor necrosis factor-related protein 4;complement-c1q tumor necrosis factor-related protein 4 protein-coding ENSG00000172247 HGNC:14346 12717 614911 VALIDATED 1315898 C1QTNF7 C1q and tumor necrosis factor related protein 7 INVOLVED IN protein homooligomerization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN collagen trimer (inferred); extracellular space (inferred); INTERACTS WITH 17beta-estradiol; MeIQx; progesterone 4 4 4 p15.3 15805380 15911648 + 15341560 15447791 + 15339936 15446167 + 1580863;6480464;8554872 12477932;15489334;16344560;19344414;20585324;23824909;24324551 114905 J3KPK0;Q9BXJ2 ABBA01032569;ABBA01032570;AC007016;AC099550;AF329839;AK314802;AMYH02008798;BC022187;BC024015;BE856929;BX647781;CH471069;DB069980;DB290077;NM_001135170;NM_001135171;NM_031911 AAH22187;AAH24015;AAK17963;ACE87828;ACT64539;BAG37330;EAW92731;NP_001128642;NP_001128643;NP_114117;Q9BXJ2 Hs.153714 1647888;1711876;1768319;1784996;1846945;2181127;5017535 C1QTNF7;G01801;G49547;SHGC-112449;SHGC-59710;SHGC-67625;WI-3239 CTRP7;ZACRP7 OTTHUMP00000122629;OTTHUMP00000159165;OTTHUMP00000217620;OTTHUMP00000217621;complement C1q tumor necrosis factor-related protein 7;complement-c1q tumor necrosis factor-related protein 7 protein-coding ENSG00000163145 HGNC:14342 16633 VALIDATED 6481186 C1QTNF9-AS1 C1QTNF9 antisense RNA 1 q12.12 100874232 AL359736 APPROVED ncrna HGNC:39906 1316024 C1QTNF6 C1q and tumor necrosis factor related protein 6 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN protein heterotrimerization (inferred); FOUND IN collagen trimer (inferred); extracellular space (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; arsenite(3-); cadmium atom 22 22 22 q13.1 21377248 21385372 - 37576206 37594341 - 37180166 37190928 - 6480464 12477932;12975309;15340161;15461802;15489334;18978792;19073967;19430480;20203524;20410501;21508531;22493691;23612905;24324551;8889548 114904 F8WC87;Q9BXI9 ABBA01055461;AF329842;AK128125;AK226149;AK314060;AMYH02038330;AY358374;BC020551;BM678522;BM722009;BQ674594;BU147265;BU535692;BU542015;BU859813;CB961508;CH471095;CR456451;NM_031910;NM_182486;XM_005261325;XM_006724125;Z82188 AAH20551;AAK17966;AAQ88740;ABM82401;ABM85589;BAC87283;BAG36766;CAG30337;CAK54433;CAK54732;EAW60145;EAW60146;NP_114116;NP_872292;Q9BXI9;XP_005261382;XP_006724188 Hs.22011 1690374;2146893;5037552 D8S2279;RH91409;STS-AA011279 CTFP6;CTRP6;ZACRP6 OTTHUMP00000197772;OTTHUMP00000197774;complement C1q tumor necrosis factor-related protein 6;complement-c1q tumor necrosis factor-related protein 6 protein-coding ENSG00000133466 HGNC:14343 12718 614910 VALIDATED 1605504 C1QTNF9B C1q and tumor necrosis factor related protein 9B FOUND IN extracellular vesicular exosome; INTERACTS WITH dibutyl phthalate (ortholog); trimellitic anhydride (ortholog) 13 13 13 q12.12 5528082 5533781 - 24465238 24471145 - 23891099 23897502 - 6480464 12477932;17544811;19666007;21640322 387911 B2RNN3 ABBA01007883;AL445985;AMYH02027697;AX525130;BC110413;BC137004;BC137006;BC144450;NM_001007537;NR_104426 AAI10414;AAI37005;AAI37007;B2RNN3;CAD57043;NP_001007538 Hs.740810 1697282 RH102138 CTRP9B;MGC117159;RP11-45B20.2 C1q/TNF-related protein 9B;OTTHUMP00000018118;OTTHUMP00000018120;collagen triple helix repeat-containing;complement C1q and tumor necrosis factor-related protein 9B;complement C1q tumor necrosis factor-related protein 9-like;complement C1q tumor necrosis factor-related protein 9B protein-coding ENSG00000205863 HGNC:34072 17369 614148 VALIDATED 1602383 C1QTNF9B-AS1 C1QTNF9B antisense RNA 1 FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 13 13 13 q12 5525682 5528896 + 24463028 24466242 + 23888889 23892103 + 6480464 12477932;15930275;16344560;21640322 542767 Q58A44 AB113650;ABBA01007883;AL445985;AMYH02027697;BC015452;BC073902;BC132842;BC132846;BC142999;DA867579;HG505463;NM_001014442;NM_001135816 AAI40048;BAD93185;NP_001014442;NP_001129288;Q58A44 Hs.642624 1697282;1715469 RH102138;RH120899 PCOTH;RP11-45B20.3 C1QTNF9B antisense RNA 1 (non-protein coding);C1QTNF9B antisense gene protein 1;prostate collagen triple helix protein APPROVED protein-coding HGNC:39839 18678 VALIDATED 1345449 C1QTNF8 C1q and tumor necrosis factor related protein 8 ASSOCIATED WITH Melanoma (inferred); FOUND IN collagen trimer (inferred); extracellular region (inferred) 16 16 16 p13.3 1352946 1361608 - 1138226 1146244 - 1088226 1096244 - 8554872 12975309;19666007;24014093 390664 P60827 ABBA01030330;AC009041;AL031713;AMYH02031214;AY358832;CH471112;FJ422561;NM_207419;XR_243281 AAI56256;AAI57037;AAQ89191;ACJ46463;EAW85686;NP_997302;P60827 Hs.527853 CTRP8;UNQ5829 C1q/TNF-related protein 8;OTTHUMP00000236763;complement C1q tumor necrosis factor-related protein 8 protein-coding HGNC:31374 12719 614147 VALIDATED 1602167 C1QTNF9 C1q and tumor necrosis factor related protein 9 ENCODES a protein that exhibits hormone activity (inferred); FOUND IN collagen trimer (inferred); extracellular region (inferred); INTERACTS WITH copper(2+) sulfate; dibutyl phthalate (ortholog); trimellitic anhydride (ortholog) 13 13 13 q12.12 5946381 5959337 + 24883686 24896669 + 24309578 24322531 + 6480464 12477932;12975309;17207965;18787108 338872 P0C862 ABBA01007888;ABBA01007889;AL359736;AMYH02027705;AX525128;AY358145;BC040438;BI767787;CH471075;NM_178540 AAH40438;AAQ88512;ADQ33014;CAD57042;EAX08334;EAX08335;NP_848635;P0C862 Hs.362854 1697282 RH102138 AQL1;C1QTNF9A;CTRP9;MGC48915 OTTHUMP00000018123;OTTHUMP00000018124;OTTHUMP00000018125;complement C1q and tumor necrosis factor-related protein 9;complement C1q and tumor necrosis factor-related protein 9A;complement C1q tumor necrosis factor-related protein 9;complement C1q tumor necrosis factor-related protein 9A protein-coding ENSG00000240654 HGNC:28732 14659 614285 VALIDATED 1346889 C1RL complement component 1, r subcomponent-like ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN complement activation, classical pathway (inferred); innate immune response (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH 1-nitropyrene; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 12 12 12 p13.31 8823225 8838082 - 7246000 7261869 - 7093405 7109273 - 6480464;8554872 12477932;12838346;14702039;15358180;15385675;16344560;16502470;19344414;19423540;20379614;20406964;20438785;22268729;22779921;8125298 51279 F5GWF3;F5H2Z5;F5H6S5;F5H7C8;H0YF87;H0YFJ9;H0YFL7;H0YGP8;Q9NZP8 ABBA01012193;ABBA01012194;ABBA01012195;AC018653;AC094008;AC233309;AF178985;AK024084;AK222802;AK314299;AMYH02025963;AMYH02025964;AW450562;BC062428;CH471116;DB113812;DR004214;HY062376;NM_001297640;NM_001297642;NM_001297643;NM_016546;XM_005253385;XM_005253386;XM_005253387;XM_006719084;XM_006719085 AAF44349;AAH62428;AAI56781;BAB14819;BAD96522;EAW88685;EAW88686;NP_001284569;NP_001284571;NP_001284572;NP_057630;Q9NZP8;XP_005253442;XP_005253443;XP_005253444;XP_006719147;XP_006719148 Hs.631730 5022578;5022588;5022651;5037552 D11S2921;D1S1423;D5S1597E;D8S2279 C1RL1;C1RLP;C1r-LP;CLSPa C1r-like protein;C1r-like serine protease analog protein;OTTHUMP00000238049;OTTHUMP00000238050;OTTHUMP00000238052;complement C1r subcomponent-like protein;complement C1r-like proteinase protein-coding ENSG00000139178 HGNC:21265 07093 608974 VALIDATED 6769130 C1RL-AS1 C1RL antisense RNA 1 12 12 12 p13.31 8837117 8850658 + 7260904 7274447 + 7108308 7121851 + 12975309;14702039 283314 ABBA01012194;ABBA01012195;ABBA01012196;AC018653;AC233309;AK091792;AL833364;AMYH02025963;AMYH02025964;AY358730;HG504460;HG504461;HG504462;NR_026947 AAQ89092 Hs.744212 1657512;1693914 D12S1953;G42647 MATL2963 APPROVED ncrna ENSG00000205885 HGNC:27461 PREDICTED 1319235 C1R complement component 1, r subcomponent ENCODES a protein that exhibits serine-type endopeptidase activity; INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); immune response (inferred); PARTICIPATES IN coagulation cascade pathway; complement system pathway; Staphylococcus aureus infection pathway; ASSOCIATED WITH Insulin Resistance; FOUND IN blood microparticle; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid 12 12 12 p13 8810415 8821122 - 7187513 7189412 - 7080209 7082108 - 1600551;1580863;6480464;6907045;7240710;8699517;8554872 17244723 10092586;10878362;11086101;11445589;11823416;12429092;12477932;1249422;12499050;12555245;12788922;12914573;1370572;14702039;14718574;1533159;15489334;16335952;17996945;20008834;20178990;20592021;20796027;20970424;21988832;23589288;23650384;2372546;2387866;2541966;2820791;2834284;3021205;3030286;3036070;6282262;6303394;737019;8125298;814163;8162045;8227070;8635594;8881771;9174342;9477945 715 D3DUT5;F5GWL0;F5GZR1;F5H1N6;F5H1V0;F5H2D0;F5H3A3;F5H3N3;F5H6Y3;F6T9X8;H0YFH3;P00736;R4GMN6 AB083037;ABBA01012193;ABBA01017671;AC094008;AC140077;AC154092;AC233309;AK024951;AK094009;AK222481;AK222491;AK291313;AK298445;AK303750;AMYH02025962;AMYH02025963;BC035220;CH471116;M14058;NM_001733;X04701 AAA51851;AAH35220;ACE87845;ACT64363;ADZ15339;BAC19850;BAD96201;BAD96211;BAF84002;BAG60662;BAG64722;CAA28407;EAW88687;EAW88688;NP_001724;P00736 Hs.524224 1656329;1690232;1743061;2218742;5016851;5019691;5091782 A009F01;C1R_1615;G32495;GDB:251487;RH17663;RH75712;RH80031 OTTHUMP00000238099;OTTHUMP00000238100;OTTHUMP00000238101;complement C1r subcomponent;complement component 1 subcomponent r protein-coding ENSG00000159403 HGNC:1246 01954 216950;613785 PROVISIONAL 8695014 C2-AS1 C2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 6 p21.3 31934474 31941724 - 8554872 20385819;21665990;22705344 102060414 ABBA01038098;ABBA01038099;AL645922;AL662849;AL844853;AMYH02013456;BX005143;BX100594;CR388219;CR759782;CR933857;NG_011730;NR_104191 Hs.571112 ncrna HGNC:49464 VALIDATED 1346750 C20orf113 chromosome 20 open reading frame 113 170486 AL034550 HGNC:16107 1353499 C2 complement component 2 Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009] 6 6 6 p21.3 33495068 33513211 + 31865562 31913449 + 31897785 31945674 + 1600582;1580863;6480464;6907045;7240710;7401250;7411731;7421516;7411694;7411716;7411713;7411693;7411695;7411692;7411691;7411720;7411735;7411727;8699517;8554872 16518403;17576744;18806293;19169232;20065024;22232432;22273503;22300950;22714898;23112567;23233260;6342123;6409476;6559061 10072631;10734221;1084023;10946278;10946292;11222683;11341920;12477932;12823772;12878586;1350302;14702039;15199963;1531292;15489334;1577763;162484;16335952;16670774;1701385;17482263;18069935;18174230;18493315;18515590;18541650;18806297;18936151;18987644;19015224;19117936;19180512;19197355;19237749;19259132;19302245;19336475;19344414;19399715;19423540;19430225;19556007;19661236;19696172;19851445;19913121;19948975;20157618;20205591;20378180;20381870;20385819;20385826;20406964;20417301;20438785;20523265;20628086;20679960;20801516;20888482;2091785;21105107;21665990;21764829;21881993;22566634;22610944;22705344;22869612;23060141;23455636;23535732;23577725;23620142;24453474;2493504;2582254;2949737;2997031;3315100;3546307;3643061;6019133;6149575;6199794;6555044;6922702;8120386;8125298;8175701;8299689;8326124;8621452;9453398;9670930;978135 717 A2ABG0;B3KTX9;B4DQI1;B4DV48;C9JYQ5;E9PDZ0;F2Z306;F2Z3N2;F8WCJ9;H0Y3H6;H0Y868;P06681;Q53HP3;Q5JP69;Q5ST52;Q8N6L6 AA740316;ABBA01038093;ABBA01038094;ABBA01038095;ABBA01038096;ABBA01038097;ABBA01038098;ABBA01038099;AF019413;AK096258;AK222537;AK222783;AK298311;AK298808;AK300892;AK300930;AK307930;AK312581;AL645922;AL662834;AL662849;AL671762;AL844853;AMYH02013456;AW515583;AY349611;BA000025;BC029781;BC043484;BX005143;BX537504;CH471081;CR388219;CR759782;CR759784;CR933857;DC349268;DC358441;DC362624;L09708;M15082;M15549;M86920;N63977;NG_011730;NM_000063;NM_001145903;NM_001178063;NM_001282457;NM_001282458;NM_001282459;X04481;X77331 AAA51854;AAA59624;AAA59649;AAB67975;AAB97607;AAH29781;AAH43484;AAQ15273;BAB63292;BAD96257;BAD96503;BAG35475;BAG53241;BAG60565;BAG60943;BAG62532;BAG62560;CAA28169;CAA54545;CAD97767;EAX03548;EAX03549;NP_000054;NP_001139375;NP_001171534;NP_001269386;NP_001269387;NP_001269388;P06681 Hs.408903 1657861;1658938;1797338;2106219;2106221;2189751;5022450 C2_3011;D10S275;D6S2896;D6S2973;N3_3_3;RH18075;WI-8686 ARMD14;CO2;DKFZp779M0311 C3/C5 convertase;OTTHUMP00000029277;OTTHUMP00000174692;OTTHUMP00000174694;OTTHUMP00000174695;OTTHUMP00000215942;OTTHUMP00000215945;complement C2;complement component C2 APPROVED protein-coding ENSG00000166278 HGNC:1248 08939 217000;603075;613927;615489 REVIEWED 1605130 C1S complement component 1, s subcomponent This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009] 12 12 12 p13 8790867 8801223 + 7167819 7178336 + 7060676 7071032 + 6480464;6907045;7240710;8699517;8554872 10092586;10630213;10775260;10878362;11337467;11390518;11527969;12477932;1249422;12645945;12788922;14674770;14702039;1533159;15489334;16169853;16335952;16344560;18062908;1854725;19344414;19423540;20008834;2007122;20406964;20438785;20467438;20592021;21103663;2141278;22855709;23592783;23650384;2372546;23750785;2387866;23989031;2459702;24695853;2537870;2553984;2831944;2834284;3007145;3500856;3521730;3756141;6362661;6604523;7779774;814163;9477945;9794427;9856483;9882449;9973493 716 B5MCV4;C9IZP8;C9JY52;F5H7T4;F8WCZ6;H0Y5D1;P09871 AB009076;ABBA01017671;AC006512;AK025309;AK126711;AK290295;AM886411;AMYH02025962;AU100335;BC056903;CD358820;CH471116;DB257339;DB265957;HC250949;HC311138;J04080;M18767;NG_011694;NM_001734;NM_201442;XM_005253760 AAA51852;AAA51853;AAH56903;BAA86864;BAF82984;CBJ05772;CBJ21224;EAW88689;EAW88690;NP_001725;NP_958850;P09871;XP_005253817 Hs.458355 1725819;1741637;1797336;1847745;2117999;2175397;5022651 C1S_1475;D11S2921;D12S2020;G61997;GDB:181601;RH17587;STS-T93284 FLJ44757 C1 esterase;OTTHUMP00000197019;OTTHUMP00000197021;OTTHUMP00000197022;OTTHUMP00000239854;basic proline-rich peptide IB-1;complement C1s subcomponent;complement component 1 subcomponent s APPROVED protein-coding ENSG00000182326 HGNC:1247 00397 120580;613783 REVIEWED 1343891 C20orf131 chromosome 20 open reading frame 131 140698 AL136172 HGNC:16124 1349741 C20orf109 chromosome 20 open reading frame 109 140829 AL118499 dJ1168M15.1 hypothetical protein LOC140829;uncharacterized protein LOC140829 protein-coding HGNC:16103 1345661 C20orf153 chromosome 20 open reading frame 153 170489 AL356755 HGNC:16146 1348206 C20orf144 chromosome 20 open reading frame 144 INTERACTS WITH cadmium atom 20 20 20 q11.22 29003152 29004752 + 32250092 32251721 + 33662286 33663915 + 6480464 11780052;12477932;15489334 128864 Q9BQM9 ABBA01019224;AL121906;AMYH02036957;BC032818;BX378327;CH471077;DQ080434;NM_080825 AAH32818;AAZ39562;EAW76310;NP_543015;Q9BQM9 Hs.324104 2160839 AF021113 bclt;dJ63M2.6 OTTHUMP00000030658;bcl-2-like protein from testis;hypothetical protein LOC128864;uncharacterized protein C20orf144 protein-coding ENSG00000149609 HGNC:16137 12749 VALIDATED 1344242 C20orf159 chromosome 20 open reading frame 159 q11.2 140705 AL031658 CAB88102 dJ310O13.4 protein-coding HGNC:16152 1347173 C20orf141 chromosome 20 open reading frame 141 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) 20 20 20 p13 2860175 2860994 + 2795633 2796476 + 2814987 2815830 + 8554872 11780052;12477932;15489334;23218918 128653 B2R5K4;Q9NUB4 ABBA01053798;AK312218;AL035460;AL713708;AMYH02036587;BC014591;BX094374;CH471133;HC006826;HC044737;NM_001256538;NM_080739 AAH14591;BAG35151;CAD28505;CBH19219;CBH30698;EAX10574;NP_001243467;NP_542777;Q9NUB4 Hs.352187 1772400 G09802 MGC26144;TMEM239;dJ860F19.4 OTTHUMP00000030040;hypothetical protein LOC128653;uncharacterized protein C20orf141 protein-coding ENSG00000258713 HGNC:16134 12748 VALIDATED 1349686 C20orf157 chromosome 20 open reading frame 157 140896 AL031686 CAB42849;Q6KAL7 dJ981L23.3 protein-coding HGNC:16150 1602964 C20orf166-AS1 C20orf166 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 20 20 20 q13.33 57850607 57859104 - 61141438 61148768 - 62543070 62551561 - 8554872 12477932;14702039;16344560;23535732 253868 Q96NR2 ABBA01012316;AC161429;AK054875;AK056546;AL449263;AL832097;AMYH02037435;BC093856;BC111938;CH471077;DA722400;HG511518;HG511519;HG511520;NR_033263 AAH93856;AAI11939;BAB70817;BAG51743;EAW75356;EAW75357;EAW75358;EAW75359;Q96NR2 Hs.337024 2220606 UniSTS:485778 C20orf200;DKFZp313D1938;FLJ30313;MGC138143;NCRNA00335 APPROVED ncrna HGNC:26393 08083 VALIDATED 1345172 C20orf176 chromosome 20 open reading frame 176 q13.13 140879 AL133230 CAC00619;Q9NQQ3 dJ530I15.3 protein-coding HGNC:16169 1347805 C20orf158 chromosome 20 open reading frame 158 85362 NM_152302 HGNC:16151 1348127 C20orf181 chromosome 20 open reading frame 181 140843 Q92884 AL158091;U63828 AAB06956;CAC17643;Q92884;Q9H1S0 Hs.555583 dJ824A14.1 protein-coding HGNC:16174 1343604 C20orf187 chromosome 20 open reading frame 187 20 p12.2 10956401 10958016 + 11181995;11780052 728434 Q9UGB4 AL050322;BX281604;CH471133;XM_001131465 CAB65795;EAX10337;Q9UGB4;XP_001131465 Hs.570365 dJ727I10.1 hCG2045828;putative uncharacterized protein C20orf187 protein-coding HGNC:16180 1601971 C20orf195 chromosome 20 open reading frame 195 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; diazinon 20 20 20 q13.33 58864733 58868396 + 62184373 62188061 + 63553020 63556708 + 6480464;8554872 11780052;12477932;15489334;16189514;23535732 79025 Q9BVV2 ABBA01021403;AK125168;AL121829;AMYH02037464;BC000912;CH471077;NM_024059;XM_005260231;XM_005260232 AAH00912;EAW75258;NP_076964;Q9BVV2;XP_005260288;XP_005260289 Hs.197755 MGC5356 OTTHUMP00000031566;hypothetical protein LOC79025;uncharacterized protein C20orf195 protein-coding ENSG00000125531 HGNC:28764 14682 PREDICTED 1351674 C20orf173 chromosome 20 open reading frame 173 20 20 20 q11.22 30857159 30866071 - 34108569 34117481 - 35520741 35529656 - 11181995;11780052;12477932;14702039;15489334;16344560 140873 Q4VXR9;Q4VXS0;Q96LM9 ABBA01019159;AK058089;AK310337;AL121586;AMYH02037001;BC112060;BC112062;CH471077;DB057743;DV080387;DW009696;FO393401;NM_001145350;NR_026933;XM_006723710;XM_006723711;XM_006723712 AAI12061;AAI12063;BAB71659;CAO03347;EAW76201;EAW76202;EAW76203;NP_001138822;Q96LM9;XP_006723773;XP_006723774;XP_006723775 Hs.158680 1697156;1798522;1800388;1801014;1801056;1812004;1819962;1974376;1974378;1974380;1974382;1974384;1974386;1974388;1974390;1974392;1974394;1974396;1974398;1974400;1974402;1974404;1974406;1974408;1974410;1974412;1974414;1974416;1974418;1974420;1974422;1974424;1974426;1974428;1974430;1974432;1974434;1974436;1974438;1974440;1974442;1974444;1974446;1974448;1974450;1974452;1974454;1974456;1974458;1974460;1974462;1974464;2215386;2215388;2215390;2215392;2215394;2215396 ECD00099;ECD01054;ECD01373;ECD01396;ECD07007;ECD11052;REN58074;REN58075;REN58076;REN58077;REN58078;REN58079;REN58080;REN58081;REN58082;REN58083;REN58084;REN58085;REN58086;REN58087;REN58088;REN58089;REN58090;REN58091;REN58092;REN58093;REN58094;REN58095;REN58096;REN58097;REN58098;REN58099;REN58100;REN58101;REN58102;REN58103;REN58104;REN58105;REN58106;REN58107;REN58108;REN58109;REN58110;REN58111;REN58112;REN58113;REN58114;REN58115;REN58116;REN58117;REN58118;RH102065;stSG636684;stSG636685;stSG636686;stSG636687;stSG636688;stSG636689 FLJ25360;MGC138265;MGC138267;dJ477O4.4 OTTHUMP00000196097;hypothetical protein LOC140873;uncharacterized protein C20orf173 protein-coding ENSG00000125975 HGNC:16166 12756 VALIDATED 1602798 C20orf202 chromosome 20 open reading frame 202 20 20 20 p13 1280428 1285247 + 1184098 1188918 + 1203454 1208274 + 12477932;14702039 400831 A1L168 ABBA01053766;AK092524;AL031665;AMYH02036564;BC127730;BC127731;BC141955;BC141956;BC150532;CR746175;NM_001009612 A1L168;AAI27731;AAI27732;NP_001009612 Hs.148503 FLJ35205 OTTHUMP00000159741;hypothetical protein LOC400831;uncharacterized protein C20orf202 APPROVED protein-coding ENSG00000215595 HGNC:37254 17387 VALIDATED 1349038 C20orf194 chromosome 20 open reading frame 194 This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011] 20 20 20 p13 3291918 3450250 - 3229948 3388587 - 3249302 3407662 - 6480464;8554872 11181995;11549316;11780052;12477932;14702039;15146197;15489334;20379614;21683323;21703177;22939624;24250222 25943 Q0IIP3;Q5TEA3 ABBA01053818;ABBA01053819;ABBA01053820;ABBA01053821;ABBA01053822;ABBA01053823;AI214589;AK023919;AK226100;AK303375;AK310540;AL109976;AL110249;AL117334;AMYH02036596;AMYH02036597;AU311821;BC041916;BC064352;BC080528;BC106086;BC122529;BX424937;CH471133;CN285135;DB504338;KF510464;NG_031974;NM_001009984;XM_005260684;XM_005260686;XM_005260687;XM_006723556;XM_006723557;XR_244215 AAH64352;AAH80528;AAI06087;AAI22530;BAG64431;CAB53697;EAX10533;EAX10534;NP_001009984;Q5TEA3;XP_005260741;XP_005260743;XP_005260744;XP_006723619;XP_006723620 Hs.516853 1336545;1643856;1662340;1668508;1669793;1679824;1722301;1759153;1784366;2149207;2165682;2171558 A002R43;D20S193;D20S596E;G06884;G60065;IB607;RH18304;RH98248;SHGC-144481;SHGC-151132;WI-18442;Z94365 DKFZp434N061;MGC117480;MGC141683 OTTHUMP00000030101;hypothetical protein LOC25943;uncharacterized protein C20orf194 APPROVED protein-coding ENSG00000088854 HGNC:17721 614146 VALIDATED 1606148 C20orf196 chromosome 20 open reading frame 196 INTERACTS WITH benzo[a]pyrene; calcitriol; hydrogen peroxide 20 20 20 p12.3 5802650 5916186 + 5731043 5844558 + 5750397 5863912 + 6480464 12477932;20360068;21130836;21145461;23455924 149840 Q5TGA6;Q5TGB0;Q8IYI0 ABBA01053889;ABBA01053890;ABBA01053891;ABBA01053892;AK057796;AK292708;AL035249;AL390028;AMYH02036648;AMYH02036649;AMYH02036650;AMYH02036651;BC035800;CH471133;NM_152504;XM_006723549 AAH35800;BAB71578;BAF85397;EAX10411;EAX10412;NP_689717;Q8IYI0;XP_006723612 Hs.529340 1650829;1752825;1778498;1846759;2119170;2124434;2162797;2170819;2183822;2186302 CHLC.GGAA9H10;D20S1034;D20S805;G09683;RH36229;RH36491;SHGC-106692;SHGC-14511;Z94356;Z94590 FLJ25067;RP4-784N16.1 OTTHUMP00000030204;OTTHUMP00000030207;hypothetical protein LOC149840;uncharacterized protein C20orf196 protein-coding ENSG00000171984 HGNC:26318 08681 PREDICTED 1606918 C20orf197 chromosome 20 open reading frame 197 ASSOCIATED WITH Melanoma (inferred) 20 20 20 q13.33 55371626 55388652 + 58630980 58648008 + 60055925 60072953 + 8554872 11780052;12477932;12975309;14702039;15489334 284756 Q6UX30;Q8N268 ABBA01005955;AK091179;AL132822;AMYH02037388;AY358539;BC101349;BC101350;BC101351;CH471077;LN608763;NM_173644 AAI01350;AAI01351;AAI01352;AAQ88903;BAC03602;EAW75416;NP_775915;Q8N268 Hs.335319 FLJ33860;MGC120496;RP5-1017F8.1 OTTHUMP00000031440;hypothetical protein LOC284756;uncharacterized protein C20orf197 protein-coding ENSG00000176659 HGNC:26601 08749 PREDICTED 1348541 C20orf57 chromosome 20 open reading frame 57 83747 AK000652;AL160175 CAI12818;Q5QP66 Hs.434108 FLJ20645;bA243J16.5 protein-coding HGNC:16190 1323352 C20orf27 chromosome 20 open reading frame 27 INTERACTS WITH calcitriol; cobalt dichloride; copper atom 20 20 20 p13 3796043 3810314 - 3734146 3749035 - 3753499 3768388 - 6480464 11780052;12477932;12665801;14702039;15489334;16189514;16344560;17549794;19913121;20628086;20811636;21139048;24654937;24816145;8125298 54976 H7BYU9;Q9GZN8 ABBA01053828;ABBA01053829;AK000557;AK024220;AK097645;AK124341;AK125202;AK225109;AK290955;AK308520;AL109804;AMYH02036603;AMYH02036604;AX883705;BC010873;BC012196;BC024036;BC069204;BF978883;BG474804;CH471133;DB317576;NM_001039140;NM_001258429;NM_001258430;NR_047675 AAH12196;AAH24036;ADZ15963;BAA91252;BAB14854;BAF83644;BAG53501;CAE92076;EAX10508;EAX10510;EAX10511;NP_001034229;NP_001245358;NP_001245359;Q9GZN8 Hs.274422 1784344;2128238 SHGC-106101;WI-18677 FLJ20550 OTTHUMP00000030113;OTTHUMP00000030114;OTTHUMP00000030116;OTTHUMP00000030117;UPF0687 protein C20orf27;hypothetical protein LOC54976 protein-coding ENSG00000101220 HGNC:15873 16648 VALIDATED 1317125 C20orf24 chromosome 20 open reading frame 24 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; cobalt dichloride; hydrogen peroxide 20 20 20 q11.23 31941205 31948034 + 35234137 35240960 + 36605734 36612557 + 6480464;8554872 11780052;12477932;14759258;15178406;15489334;17353931;20877624;21890473;21906983;21963094;22190034;23000965;24250222;8824393 55969 Q9BUV8 ABBA01006582;AF112213;AF274936;AF274948;AL050318;AMYH02037026;BC001871;BC004446;BG395753;BI223439;BQ086248;BU174619;BU189639;BU194101;BU848918;CD370956;CH471077;NM_001199534;NM_018840;NM_199483;NR_026562;S83364 AAB50849;AAF17201;AAH01871;AAH04446;AAK07515;AAK07525;EAW76120;EAW76121;EAW76122;EAW76123;EAW76124;EAW76125;NP_001186463;NP_061328;NP_955777;Q9BUV8 Hs.584985 1662759;1671904;2151711 D20S1010;HUM000AA21;WI-19258 PNAS-11;RIP5 OTTHUMP00000030851;OTTHUMP00000030853;OTTHUMP00000030854;RAB5-interacting protein;uncharacterized protein C20orf24 protein-coding ENSG00000101084 HGNC:15870 12761 VALIDATED 2303842 C20orf203 chromosome 20 open reading frame 203 FOUND IN cytoplasm (inferred) 20 20 20 q11.21 27975409 27995749 - 31219427 31261743 - 32631625 32673941 - 12477932;14702039;16344560;20376170;8889548 284805 Q8NBC4 ABBA01019260;AK091025;AMYH02036933;BC105014;BC105042;BM662904;BU736724;CH471077;DA522519;DB134998;DB160076;FO393400;GU931819;GU931820;HG511304;NM_182584;XM_005260403 ADF32072;ADF32073;BAC03569;EAW76366;NP_872390;Q8NBC4;XP_005260460 Hs.353262 1667528;5493305 UniSTS:485666;WI-14823 FLJ33706;RP11-503P21.2 alugen;uncharacterized protein C20orf203 APPROVED protein-coding HGNC:26592 08164 VALIDATED 1348821 C20orf62 chromosome 20 open reading frame 62 INTERACTS WITH cadmium atom 20 20 q13.12 42523817 42527398 - 44461763 44465344 - 6480464 11780052;12477932;15489334 140834 Q4KN68 ABBA01052642;AL132772;AMYH02037135;BC030259;CH471077;NM_001287807 EAW75920;NP_001274736;Q4KN68 Hs.357589 dJ1013A22.3 uncharacterized protein C20orf62 protein-coding ENSG00000168746 HGNC:16195 18555 VALIDATED 1347902 C20orf66 chromosome 20 open reading frame 66 q13.32 343629 AL121919;AL136532;CH471077;XM_001716673;XM_001723936;XM_293121 EAW75440;P0C7V3;XP_001716725;XP_001723988;XP_293121 bA379F14.2 protein-coding HGNC:16199 1352255 C20orf89 chromosome 20 open reading frame 89 140882 AL157414 HGNC:16220 1347015 C20orf78 chromosome 20 open reading frame 78 ASSOCIATED WITH Melanoma (inferred) 20 20 20 p11.23 18864647 18885071 - 18790372 18810839 - 18809728 18830195 - 8554872 11780052 100128496 Q9BR46 ABBA01054056;AL035563;AMYH02036785;AW118618;BX112808;CH471133;CR738909;LN608747;NM_001242671 EAX10223;NP_001229600;Q9BR46 Hs.664484 1688829;1697104;1703310 RH102036;RH92791;SHGC-68546 dJ1068E13.1 putative uncharacterized protein C20orf78;uncharacterized protein LOC100128496 protein-coding ENSG00000149443 HGNC:16210 VALIDATED 1343671 C20orf80 chromosome 20 open reading frame 80 14702039 91222 H0YEZ2;Q96ND1;Q9BZ00;Q9BZ01 AK055615;AL441988 BAB70972;CAC27358;Q96ND1;Q9BZ00;Q9BZ01 Hs.653099 bA348I14.2 protein-coding HGNC:15792 1342765 C21orf112 chromosome 21 open reading frame 112 378824 BF694301 Hs.125113 PRED71 protein-coding HGNC:19724 1346131 C20orf96 chromosome 20 open reading frame 96 20 20 20 p13 346365 366233 - 251504 271419 - 270863 290778 - 11780052;12477932;14702039;16344560;17207965;21906983 140680 B7Z971;B7ZML9;F5GZA9;Q5JYC3;Q9NUD7 AA921838;ABBA01053744;ABBA01053745;AK091924;AK097394;AK302223;AK304526;AL034548;AMYH02036544;AMYH02036545;AMYH02036546;BC051762;BC134417;BC137450;BC144648;BC144649;BX640715;CH471133;DB226405;DB320878;EL734555;NM_080571;NM_153269;XM_005260666;XM_006723543 AAI34418;AAI37451;AAI44650;BAC03772;BAC05033;BAH13653;BAH14207;CAE45834;EAX10681;EAX10682;NP_542138;NP_695001;Q9NUD7;XP_005260723;XP_006723606 Hs.348112 FLJ40075;dJ1103G7.2 OTTHUMP00000029908;OTTHUMP00000029909;hypothetical protein LOC140680;uncharacterized protein C20orf96 protein-coding ENSG00000196476 HGNC:16227 12790 VALIDATED 1342910 C20orf85 chromosome 20 open reading frame 85 20 20 20 q13.32 53466441 53476642 + 56725983 56736186 + 58150927 58161130 + 11780052;12477932;15489334;17304513;23251661;8889548 128602 Q9H1P6 ABBA01052938;AL354776;AMYH02037360;BC035405;BU676204;BX093883;CH471077;NM_178456 AAH35405;EAW75503;NP_848551;Q9H1P6 Hs.43977 LLC1;bA196N14.1 OTTHUMP00000031384;hypothetical protein LOC128602;low in lung cancer 1;uncharacterized protein C20orf85 protein-coding ENSG00000124237 HGNC:16216 12787 VALIDATED 1349466 C21orf114 chromosome 21 open reading frame 114 378826 AF304443 HGNC:19726 1345871 C21orf113 chromosome 21 open reading frame 113 378825 P0C852 AI015287 HGNC:19725 1352954 C21orf115 chromosome 21 open reading frame 115 378827 HGNC:19746 1343792 C21orf105 chromosome 21 open reading frame 105 INVOLVED IN syncytium formation; FOUND IN extracellular space; plasma membrane; INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; methylmercury chloride 6480464 90625 M5A8F1 XM_033004 2170961;2170963 A005Z22;G20624 HGNC:17216 1353985 C21orf116 chromosome 21 open reading frame 116 378820 AF130090 AAG35516;Q9H386 PRED82 protein-coding HGNC:17285 1342696 C21orf118 chromosome 21 open reading frame 118 378829 AF304442 HGNC:23127 7406701 C21orf140 chromosome 21 open reading frame 140 21 21 35772204 35773947 - 34400112 34401072 - 10830953;15489334 101928147 B9A014 AA860112;AP000322;NM_001282537 B9A014;NP_001269466 Hs.303798 uncharacterized protein C21orf140;uncharacterized protein ENSP00000386791 protein-coding HGNC:39602 VALIDATED 1347663 C21orf124 chromosome 21 open reading frame 124 85006 BC021550;NM_032920 HGNC:19728 1347446 C21orf12 chromosome 21 open reading frame 12 54096 HGNC:1254 1343597 C21orf15 chromosome 21 open reading frame 15 21 21 21 q11 394568 399795 + 15215454 15220685 - 13843133 13848364 - 10830953;11707072 54094 ABBA01057063;AC245051;AL109748;AY040090;BX648100;CA415229;NR_026755 AAK74137 Hs.580910 5112333 RH103540 ncrna ENSG00000228314 HGNC:1257 PREDICTED 1348175 C21orf19 chromosome 21 open reading frame 19 21 21 q22.13 22701316 22703084 + 37502452 37504216 + 10830953;11707072 54092 AP000689;AP001725;NG_000928 pseudo HGNC:1259 1346202 C21orf32 chromosome 21 open reading frame 32 q22.3 10830953;15782160 54081 AP001753 BAA95555;P57056 putative gene with similarities to yeast gene YDL038c;putative uncharacterized protein C21orf32 protein-coding HGNC:1272 1345634 C21orf36 chromosome 21 open reading frame 36 54077 HGNC:1276 1353237 C21orf47 chromosome 21 open reading frame 47 q22.11 10830953 54068 AI282569 protein-coding HGNC:1288 1320014 C21orf2 chromosome 21 open reading frame 2 Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012] 21 21 21 q22.3 30854055 30864461 - 45748827 45759285 - 44328944 44339402 - 6480464 10830953;12477932;12624744;15068244;15489334;16341674;17207965;21906983;24250222;9325172;9465297 755 O43822 AB209578;ABBA01074163;AMYH02037910;AMYH02037911;AP001062;AP001754;BC031300;BC072012;BM761336;CH471079;NG_032952;NM_001271440;NM_001271441;NM_001271442;NM_004928;U84569;U84570;XM_006724051;XM_006724052;XM_006724053;Y11392;Z93322 AAB46590;AAB46591;AAH31300;AAH72012;ADQ32159;BAA95562;BAD92815;CAA72202;CAB07532;EAX09431;EAX09432;EAX09433;EAX09434;EAX09435;NP_001258369;NP_001258370;NP_001258371;NP_004919;O43822;XP_006724114;XP_006724115;XP_006724116 Hs.517331 1644669;1681712;1730873;1773776;1790651;1793954;2144290 A009B16;D21S400;PMC310701P4;RH92553;SHGC-57478;STS-AA022689;STS_CEB281 A2;LRRC76;YF5;YF5/A2 OTTHUMP00000109511;OTTHUMP00000109512;OTTHUMP00000109513;hypothetical protein LOC755;leucine rich repeat containing 76;nuclear encoded mitochondrial protein C21orf2;nuclear encoded mitochondrial protein, cDNA A2-YF5;uncharacterized protein C21orf2 APPROVED protein-coding ENSG00000160226 HGNC:1260 603191 REVIEWED 1343023 C21orf33 chromosome 21 open reading frame 33 This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 21 21 21 q22.3 30659152 30671262 + 45553476 45622835 + 44133612 44202944 + 6480464 10830953;12477932;1286669;15082224;15342556;15489334;16169070;18587394;20301552;20877624;21102463;21139048;21297633;21832049;21890473;2290832;23128233;24654937;24816145;8753807;8889549;8975701;9150728;9179495;9205129 8209 F2Z2Q0;H7BYH1;H7C1F6;H7C2G3;P30042 AA045757;AB001517;AMYH02037907;AP001055;AP001056;AP001057;AP001753;BC002370;BC003587;BP283346;CH471079;D86060;D86061;D86062;KC877912;KC877914;KC877915;KC877918;KC877919;KC877922;KF510570;NG_021281;NM_004649;NM_198155;U53003;U53007;XM_005261184;XM_005261185;XM_005261186;XM_006724055;XM_006724056;Y07572 AAC50937;AAC50938;AAH02370;AAH03587;ADZ15894;BAA12984;BAA12985;BAA20888;BAA21138;BAA21139;BAA95554;CAA68857;EAX09454;EAX09455;EAX09456;NP_004640;NP_937798;P30042;XP_005261241;XP_005261242;XP_005261243;XP_006724118;XP_006724119 Hs.413482 1646362;1682954;1793950;2128317;2131386;2132587;2160690 D21S1851;PMC310701P2;RH68310;RH75349;SHGC-64268;SHGC-87686;SHGC-87690 D21S2048E;ES1;GT335;HES1;KNP-I;KNPH;KNPI ES1 protein homolog, mitochondrial;Keio novel protein I;OTTHUMP00000109519;OTTHUMP00000109520;OTTHUMP00000109521;OTTHUMP00000109522;OTTHUMP00000174938;human HES1 protein, homolog to E.coli and zebrafish ES1 protein APPROVED protein-coding ENSG00000160221 HGNC:1273 09044 601659 REVIEWED 1346218 C21orf53 chromosome 21 open reading frame 53 54063 HGNC:1295 1347138 C21orf40 chromosome 21 open reading frame 40 54074 HGNC:1281 1351432 C21orf58 chromosome 21 open reading frame 58 INTERACTS WITH calcitriol; copper atom; copper(0) 21 21 21 q22.3 32834819 32857559 - 47720344 47743813 - 46300430 46323899 - 6480464 10830953;11707072;12477932;14702039;16344560;18624398;24250222;7757816;8889548 54058 C9JH41;H0YCB6;H7C1T9;P58505;Q0VAL8;Q8N7N9 ABBA01021762;ABBA01021763;AK056387;AK096641;AK098098;AMYH02037955;AP000471;AY039243;AY039244;BC026042;BC028934;BC044223;BC067876;BC098408;BC121007;BC121008;BM475055;CB305953;CH471079;DA920594;NM_001286462;NM_001286463;NM_001286476;NM_001286477;NM_058180;XM_005261148;XM_005261149;XM_006724018;XM_006724019;XM_006724020;XR_244317 AAI21008;AAI21009;AAK72408;AAK72409;BAC05232;BAG51693;EAX09282;EAX09283;EAX09284;EAX09285;EAX09286;EAX09287;NP_001273391;NP_001273392;NP_001273405;NP_001273406;NP_478060;P58505;XP_005261205;XP_005261206;XP_006724081;XP_006724082;XP_006724083 Hs.236572;Hs.744525 1735014;5016781;5022578 D1S1423;D21S1714E;SHGC-67307 OTTHUMP00000115789;OTTHUMP00000115793;OTTHUMP00000115795;hypothetical protein LOC54058;uncharacterized protein C21orf58 protein-coding ENSG00000160298 HGNC:1300 10755 VALIDATED 1347551 C21orf64 chromosome 21 open reading frame 64 59270 HGNC:13560 1342876 C21orf69 chromosome 21 open reading frame 69 q22.3 11707072;12477932;15489334;16780588 84537 AL844908;AY035381;BC101235;BC101236;BC101237;BC101238;NM_058189 AAI01236;AAI01237;AAI01238;AAI01239;AAK60445;NP_478069;P58556;Q495D5 Hs.534504 MGC120186;MGC120187;MGC120189;PRED54 protein-coding HGNC:15709 10763 1347089 C21orf62-AS1 C21orf62 antisense RNA 1 21 21 21 q22.11 19328068 19353675 + 34144411 34170017 + 32772100 32797707 + 10830953;12477932;14702039;16344560;20639394;7782076 54067 Q17RA5 ABBA01057320;ABBA01057321;AK096601;AMYH02037725;AP000280;BC034794;BC117397;BC117399;CH471079;DA321673;DA776905;KF459715;KF511381;LN608867;LN608871;LN608872;LN608873;NR_024622;NR_024623 EAX09855;Q17RA5 Hs.54725 1800968;1804190;1804390;1804552;1806864;1809768;1814340;1820272;1826312;1826678;1827304;1827390;1827464;1832798;1834974;1836520;1840318;1858580;2022812;2022814;2022816;2022818;2022820;2022822;2022824;2022826;2022828;2022830;2022832;2022834;2022836;2022838;2022840;2022842;2022844;2022846;2022848;2022850;2022852;2022854;2022856;2022858;2022860;2022862;2022864;2022866;2022868;2022870;2022872;2022874;2022876;2022878;2022880;2022882;2022884;2022886;2022888;2022890;2022892;2022894;2022896;2022898;2022900;2022902;2022904;2022906;2022908;2022910;2022912;2022914;2022916;2022918;2022920;2022922;2022924;2022926;2022928;2022930;2022932;2022934;2022936;2022938;2022940;2022942;2022944;2022946;2022948;2022950;2022952;2022954;2022956;2022958;2022960;2022962;2022964;2022966;2022968;2022970;2022972;2022974;2022976;2022978;2022980;2022982;2022984;2022986;2022988;2022990;2022992;2022994;2022996;2022998;2023000;2023002;2023004;2023006;2023008;2023010;2023012;2023014;2023016;2023018;2023020;2023022;2023024;2023026;2023028;2023030;2023032;2023034;2023036;2023038;2023040;2023042;2023044;2023046;2023048;2023050;2023052;2100296;2100298;2100300;2100302;2100304;2100306;2100308;2100310;2100312;2100314;2100316;2100318;2100326;2100328;2100330;2100332;2112684;5109281 D1S1425;D3S4402;ECD01349;ECD03015;ECD03119;ECD03205;ECD04397;ECD05876;ECD08199;ECD11210;ECD14269;ECD14453;ECD14767;ECD14811;ECD14848;ECD17540;ECD18638;ECD19423;ECD21344;ECD24491;REN82404;REN82405;REN82406;REN82407;REN82408;REN82409;REN82410;REN82411;REN82412;REN82413;REN82414;REN82415;REN82416;REN82417;REN82418;REN82419;REN82420;REN82421;REN82422;REN82423;REN82424;REN82425;REN82426;REN82427;REN82428;REN82429;REN82430;REN82431;REN82432;REN82433;REN82434;REN82435;REN82436;REN82437;REN82438;REN82439;REN82440;REN82441;REN82442;REN82443;REN82444;REN82445;REN82446;REN82447;REN82448;REN82449;REN82450;REN82451;REN82452;REN82453;REN82454;REN82455;REN82456;REN82457;REN82458;REN82459;REN82460;REN82461;REN82462;REN82463;REN82464;REN82465;REN82466;REN82467;REN82468;REN82469;REN82470;REN82471;REN82472;REN82473;REN82474;REN82475;REN82476;REN82477;REN82478;REN82479;REN82480;REN82481;REN82482;REN82483;REN82484;REN82485;REN82486;REN82487;REN82488;REN82489;REN82490;REN82491;REN82492;REN82493;REN82494;REN82495;REN82496;REN82497;REN82498;REN82499;REN82500;REN82501;REN82502;REN82503;REN82504;REN82505;REN82506;REN82507;REN82508;REN82509;REN82510;REN82511;REN82512;REN82513;REN82514;REN82515;REN82516;REN82517;REN82518;REN82519;REN82520;REN82521;REN82522;REN82523;REN82524;stSG606659;stSG606660;stSG606661;stSG606662;stSG606663;stSG606664;stSG606665;stSG606666;stSG606667;stSG606668;stSG606669;stSG606670;stSG606674;stSG606675;stSG606676;stSG606677 APPROVED ncrna HGNC:1290 10750 VALIDATED 1315861 C21orf59 chromosome 21 open reading frame 59 This gene a protein plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013] 21 21 21 q22.1 19157614 19168548 - 33973977 33985174 - 32601674 32612608 - 6480464;8699517;7240710;8554872 12477932;14702039;15489334;15592455;16780588;17207965;17370265;17567994;19471022;21139048;21832049;21900206;21906983;21963094;23503679;23824909;24094744;8125298 56683 C9J818;C9JX57;D3DSE6;H7C2R6;H7C3D9;P57076;Q9NX33 ABBA01057320;AF282851;AK000474;AK055328;AK094456;AK097566;AK098577;AK223318;AK225697;AK300970;AMYH02037725;AP000275;BC000709;CH471079;FJ649644;KF457218;NG_033839;NM_021254;NR_036552 AAG00496;AAH00709;ACX50615;ADQ31713;BAA91189;BAB70903;BAC04359;BAD97038;BAG62593;EAX09865;EAX09866;EAX09867;EAX09868;NP_067077;P57076 Hs.5811 1666736;1776708;1778530;1808598;1809682;1810472;1810474;1811526;1814042;1814338;1816536;1829542;1830474;1835940;1843966;2021408;2021410;2021412;2021414;2021416;2021418;2021420;2021422;2021424;2021426;2021428;2021430;2021432;2021434;2021436;2021438;2021440;2021442;2021444;2021446;2021448;2021450;2021452;2021454;2021456;2021458;2021460;2021462;2021464;2021466;2021468;2021470;2021472;2021474;2021476;2021478;2021480;2021482;2021484;2021486;2021488;2021490;2021492;2021494;2021496;2021498;2021500;2021502;2021504;2021506;2021508;2021510;2021512;2021514;2021516;2021518;2021520;2021522;2100040;2100042;2100044;2100046;2100048;2100050;2100052;2100054;2100056;2100058;2177626;2184240;2185229 D21S1860;ECD05281;ECD05833;ECD06229;ECD06230;ECD06763;ECD08048;ECD08198;ECD09310;ECD15902;ECD16371;ECD19131;ECD23195;REN81693;REN81694;REN81695;REN81696;REN81697;REN81698;REN81699;REN81700;REN81701;REN81702;REN81703;REN81704;REN81705;REN81706;REN81707;REN81708;REN81709;REN81710;REN81711;REN81712;REN81713;REN81714;REN81715;REN81716;REN81717;REN81718;REN81719;REN81720;REN81721;REN81722;REN81723;REN81724;REN81725;REN81726;REN81727;REN81728;REN81729;REN81730;REN81731;REN81732;REN81733;REN81734;REN81735;REN81736;REN81737;REN81738;REN81739;REN81740;REN81741;REN81742;REN81743;REN81744;REN81745;REN81746;REN81747;REN81748;REN81749;REN81750;SHGC-23990;SHGC-52132;SHGC-87601;SHGC-87602;SHGC-87603;stSG606525;stSG606526;stSG606527;stSG606528;stSG606529;stSG606530;stSG606531;stSG606532;stSG606533;stSG606534 C21orf48;CILD26;FBB18;FLJ20467;FLJ37137;FLJ40247 OTTHUMP00000067400;OTTHUMP00000067401;OTTHUMP00000107731;OTTHUMP00000174371;UPF0769 protein C21orf59;hypothetical protein LOC56683;prostate cancer upregulated protein 1;uncharacterized protein C21orf59 protein-coding ENSG00000159079 HGNC:1301 10756 615494;615500 REVIEWED 1354052 C21orf79 chromosome 21 open reading frame 79 282570 HGNC:16340 1343736 C21orf62 chromosome 21 open reading frame 62 INTERACTS WITH cadmium dichloride (ortholog) 21 21 21 q22.11 19346641 19369711 - 34162984 34186053 - 32790673 32813743 - 6480464 10773462;12036298;12477932;15146197;15342556;17567994;20494980;20639394 56245 H7BYF8;Q9NYP8 ABBA01057320;ABBA01057321;AC203640;AF231922;AI651610;AK290983;AMYH02037725;AP000280;BC004959;BC069689;BC069709;BC069766;BC069779;BE466137;BM512397;BP214434;BU789528;CH471079;CN428551;DQ656042;KF459715;KF511381;NM_001162495;NM_001162496;NM_019596 AAF72946;AAI72318;BAF83672;EAX09853;EAX09854;NP_001155967;NP_001155968;NP_062542;Q9NYP8 Hs.517235 1803052;1804190;1804390;1804552;1814340;1815080;1816370;1816452;1816978;1819112;1825664;1826154;1827304;1827390;1827970;1829764;1830526;1834394;1836520;1838144;1838580;1838924;1839456;1840318;1858580;2022982;2022984;2022986;2022988;2022990;2022992;2022994;2022996;2022998;2023000;2023002;2023004;2023006;2023008;2023010;2023012;2023014;2023016;2023018;2023020;2023022;2023024;2023026;2023028;2023030;2023032;2023034;2023036;2023038;2023040;2023042;2023044;2023046;2023048;2023050;2023052;2023054;2023056;2023058;2023060;2023062;2023064;2023066;2023068;2023070;2023072;2023074;2023076;2023078;2023080;2023082;2023084;2023086;2023088;2023090;2023092;2023094;2023096;2023098;2023100;2023102;2023104;2023106;2023108;2023110;2023112;2023114;2023116;2023118;2023120;2023122;2023124;2023126;2023128;2023130;2023132;2023134;2023136;2023138;2023140;2023142;2023144;2023146;2023148;2023150;2023152;2023154;2023156;2023158;2023160;2023162;2023164;2023166;2023168;2023170;2023172;2023174;2023176;2023178;2023180;2023182;2023184;2023186;2023188;2023190;2023192;2023194;2023196;2023198;2023200;2100320;2100322;2100324;2100326;2100328;2100330;2100334;2100336;2100338;2100340;2100342;2100344;2100346;2100348;2100350;2100352;2100354;2100356;2100358;2100360;2100362;2100364;5015861;5015881;5015961;5021228;5022578;5037552;7185938 D10S16;D15S1477;D1S1423;D8S2279;ECD02417;ECD03015;ECD03119;ECD03205;ECD08199;ECD08572;ECD09227;ECD09268;ECD09538;ECD10622;ECD13940;ECD14187;ECD14767;ECD14811;ECD15108;ECD16014;ECD16398;ECD18345;ECD19423;ECD20244;ECD20464;ECD20641;ECD20910;ECD21344;ECD24491;GDB:312794;GDB:335751;REN82489;REN82490;REN82491;REN82492;REN82493;REN82494;REN82495;REN82496;REN82497;REN82498;REN82499;REN82500;REN82501;REN82502;REN82503;REN82504;REN82505;REN82506;REN82507;REN82508;REN82509;REN82510;REN82511;REN82512;REN82513;REN82514;REN82515;REN82516;REN82517;REN82518;REN82519;REN82520;REN82521;REN82522;REN82523;REN82524;REN82525;REN82526;REN82527;REN82528;REN82529;REN82530;REN82531;REN82532;REN82533;REN82534;REN82535;REN82536;REN82537;REN82538;REN82539;REN82540;REN82541;REN82542;REN82543;REN82544;REN82545;REN82546;REN82547;REN82548;REN82549;REN82550;REN82551;REN82552;REN82553;REN82554;REN82555;REN82556;REN82557;REN82558;REN82559;REN82560;REN82561;REN82562;REN82563;REN82564;REN82565;REN82566;REN82567;REN82568;REN82569;REN82570;REN82571;REN82572;REN82573;REN82574;REN82575;REN82576;REN82577;REN82578;REN82579;REN82580;REN82581;REN82582;REN82583;REN82584;REN82585;REN82586;REN82587;REN82588;REN82589;REN82590;REN82591;REN82592;REN82593;REN82594;REN82595;REN82596;REN82597;REN82598;stSG606671;stSG606672;stSG606673;stSG606674;stSG606675;stSG606676;stSG606678;stSG606679;stSG606680;stSG606681;stSG606682;stSG606683;stSG606684;stSG606685;stSG606686;stSG606687;stSG606688;stSG606689;stSG606690;stSG606691;stSG606692;stSG606693 B37;C21orf120;PRED81 OTTHUMP00000216389;OTTHUMP00000216390;OTTHUMP00000216391;hypothetical protein LOC56245;uncharacterized protein C21orf62 protein-coding HGNC:1305 10759 VALIDATED 1342798 C21orf72 chromosome 21 open reading frame 72 282568 HGNC:16026 1347302 C21orf77 chromosome 21 open reading frame 77 55264 AK001794;NM_018277 HGNC:16080 1351562 C21orf89 chromosome 21 open reading frame 89 q22.3 12036297 114042 P59042 AF426268 AAM53524;P59042 Hs.653520 protein-coding HGNC:16425 1347523 C21orf97 chromosome 21 open reading frame 97 AK024977 HGNC:16624 1352771 C21orf91 chromosome 21 open reading frame 91 INTERACTS WITH aflatoxin B1; amiodarone; benzo[a]pyrene 21 21 21 q21.1 4339748 4370167 - 19161284 19191703 - 17788967 17819386 - 6480464 12477932;12815627;14702039;16189514;16344560;18624398;20360068;22039568;8125298;9828130 54149 E7ETB0;Q68DA1;Q9NYK6 ABBA01057126;AF239726;AJ227876;AK023825;AK225123;AK314471;AL109761;AMYH02037562;BC015468;BF739854;CH471079;CR457317;CR749496;DA215855;DB066982;NM_001100420;NM_001100421;NM_017447 AAF44695;AAH15468;BAB14691;BAG37077;CAG33598;CAH18319;EAX10020;EAX10021;EAX10022;NP_001093890;NP_001093891;NP_059143;Q9NYK6 Hs.293811 1652901;1673269;1679271;1698574;1730716;1730843;1730845 D21S362;D21S384;D21S385;D5S2606;D7S2890;RH102839;RH36095 C21orf14;C21orf38;CSSG1;DKFZp781D1223;EURL;YG81 OTTHUMP00000083236;OTTHUMP00000083237;OTTHUMP00000083238;OTTHUMP00000083239;cold sore susceptibility gene 1;early undifferentiated retina and lens;protein EURL homolog protein-coding ENSG00000154642 HGNC:16459 10776 VALIDATED 1346389 C22orf12 chromosome 22 open reading frame 12 66034 AB050770 HGNC:14238 4140075 C21orf91-OT1 C21orf91 overlapping transcript 1 21 21 q21.1 19149721 19164826 - 17777404 17792509 - 12036297 246312 ABBA01057126;AI003918;AI201304;AL109761;AMYH02037562;AW469557;AY063452;AY063453;BX088960;BX099338;CR745563;HG511607;HG511608;NR_038870;NR_038871 Hs.473425;Hs.624361 AL109761.3;D21S2089E;NCRNA00285 APPROVED ncrna ENSG00000240770 HGNC:16729 VALIDATED 1351784 C22orf23 chromosome 22 open reading frame 23 22 22 22 q13.1 22141251 22151322 - 38339057 38349676 - 37943050 37953669 - 11237012;12477932;14702039;15342556;15461802;15489334;16344560;24250222 84645 B0QYM1;B0QYM2;Q9BZE7 ABBA01055494;ABBA01055495;AF324466;AK057349;AL031587;AMYH02038346;AMYH02038347;AMYH02038348;BC031998;BI463610;BI827388;BP368870;CH471095;CR456440;DA968042;NM_001207062;NM_032561;XM_005261781;XM_005261782;XM_005261783;XM_005261784;XM_005261785;XM_006724339 AAH31998;AAK07640;BAB71442;CAG30326;CAK54469;CAK54768;EAW60200;EAW60201;NP_001193991;NP_115950;Q9BZE7;XP_005261838;XP_005261839;XP_005261840;XP_005261841;XP_005261842;XP_006724402 Hs.517612 1676152;1684012;1699222;1770756;2180525;2185135 RH103192;RH46410;RH68010;RH92562;RH93282;SHGC-57930 EVG1;FLJ32787;dJ1039K5.6 OTTHUMP00000198218;OTTHUMP00000198219;OTTHUMP00000198220;OTTHUMP00000198221;OTTHUMP00000199345;UPF0193 protein EVG1;hypothetical protein LOC84645 protein-coding ENSG00000128346 HGNC:18589 12799 VALIDATED 1349066 C22orf15 chromosome 22 open reading frame 15 INTERACTS WITH cadmium dichloride (ortholog) 22 22 22 q11.23 7944301 7947143 + 24102622 24108050 + 23762875 23765863 + 6480464 10591208;12477932;14702039;15461802;16344560;8889548 150248 F8W7S3;Q8WYQ4 AB050773;ABBA01055120;AK093880;AMYH02038133;AP000348;AP000349;BC113450;BC113452;BU584544;BU739625;CH471095;CR456371;DB200363;NM_182520;XM_005261354;XM_005261357;XM_005261358;XM_006724142;XM_006724143;XM_006724144;XM_006724145 AAI13451;AAI13453;BAB83035;CAG30257;CAK54507;CAK54806;EAW59599;EAW59600;EAW59601;NP_872326;Q8WYQ4;XP_005261411;XP_005261414;XP_005261415;XP_006724205;XP_006724206;XP_006724207;XP_006724208 Hs.116254 2220680 UniSTS:492208 FLJ36561;N27C7-3 OTTHUMP00000198419;OTTHUMP00000198420;hypothetical protein LOC150248;uncharacterized protein C22orf15 protein-coding ENSG00000169314 HGNC:15558 08778 VALIDATED 1606220 C22orf29 chromosome 22 open reading frame 29 INVOLVED IN mitochondrial outer membrane permeabilization; regulation of mitochondrial membrane potential; FOUND IN mitochondrion; INTERACTS WITH bisphenol A; calcitriol; copper(2+) sulfate 22 22 22 q11.21 3685729 3694440 - 19833661 19842371 - 19846138 19854848 - 6480464 12477932;16344560;18029348;24250222;8125298 79680 C9J0V4;Q7L3V2 ABBA01005404;AC000076;AK024778;AK026924;AK225088;AK291262;AL832509;AMYH02038051;BC008696;BC011679;BX640785;BX640969;BX640998;CH471176;DA182195;DA757523;NM_024627 AAH11679;BAB14998;BAF83951;CAE45875;CAE45984;CAE46001;EAX03018;EAX03019;NP_078903;Q7L3V2 Hs.105642 1671460;1699616;1774071;2129696;2154583;2159289;5020988;5022322 D11S2560;D22S958;RH103410;RH46328;SHGC-56622;STS-AA041293;STS-T79756;WI-15274 BOP;FLJ21125 BH3-only protein;OTTHUMP00000196851;OTTHUMP00000196852;OTTHUMP00000196853;OTTHUMP00000197843;hypothetical protein LOC79680;uncharacterized protein C22orf29 protein-coding ENSG00000215012 HGNC:26112 13382 VALIDATED 1606462 C22orf39 chromosome 22 open reading frame 39 INTERACTS WITH (+)-catechin; trichostatin A; valproic acid 22 22 22 q11.21 3280666 3288012 - 19428409 19435755 - 19440886 19448232 - 6480464 12477932;14702039;15461802;21666788;21900206 128977 E0CX16;Q6P5X5 ABBA01005411;AC000068;AI379685;AK095271;AK290073;AMYH02038041;BC030758;BC046204;BC062599;BX337505;BX648073;CH471176;CR456339;NM_001166242;NM_173793 AAH62599;BAF82762;CAG30225;EAX03039;EAX03040;EAX03041;NP_001159714;NP_776154;Q6P5X5 Hs.659565 1854773;2112500;2128841;5015959;5022651 D10S2448;D11S2921;D22S1665;RH48037;RH65762 DKFZp686I08210;MGC74441 OTTHUMP00000196398;OTTHUMP00000196399;UPF0545 protein C22orf39;hypothetical protein LOC128977 protein-coding ENSG00000242259 HGNC:27012 14041 VALIDATED 1602005 C22orf24 chromosome 22 open reading frame 24 FOUND IN integral component of membrane (inferred) 22 22 22 q12.1-q12.3 16129958 16141784 - 32329507 32341336 - 31933521 31945350 - 10591208;24250222 25775 B7Z221;Q9Y442 ABBA01055356;ABBA01055357;AJ704765;AJ704766;AK294232;AK315264;AL050256;AMYH02038258;CH471095;KF457403;NM_015372;XM_005261497;Z82248 BAG37681;BAH11707;CAB43358;CAG28925;CAG28926;EAW60000;NP_056187;Q9Y442;XP_005261554 Hs.627602 1807346;1814548;1823110;1825826;1827864;1828968;1830182;1830980;1831256;1831864;1832560;1838578;1840864;1842456;1844852;2009840;2009842;2009844;2009846;2009848;2009850;2009852;2009854;2009856;2009858;2009860;2009862;2009864;2009866;2009868;2009870;2009872;2009874;2009876;2009878;2009880;2009882;2009884;2009886;2009888;2009890;2009892;2009894;2009896;2009898;2009900;2009902;2009904;2009906;2009908;2009910;2009912;2009914;2009916;2009918;2009920;2009922;2009924;2009926;2009928;2009930;2009932;2009934;2009936;2009938;2009940;2009942;2009944;2009946;2009948;2009950;2009952;2009954;2009956;2098064;2098066;2098068;2098070;2098072;2098074;2098076;2098078;2098080;2098082 ECD04644;ECD08304;ECD12643;ECD14021;ECD15055;ECD15611;ECD16224;ECD16626;ECD16764;ECD17070;ECD17420;ECD20463;ECD21625;ECD22431;ECD23642;REN75841;REN75842;REN75843;REN75844;REN75845;REN75846;REN75847;REN75848;REN75849;REN75850;REN75851;REN75852;REN75853;REN75854;REN75855;REN75856;REN75857;REN75858;REN75859;REN75860;REN75861;REN75862;REN75863;REN75864;REN75865;REN75866;REN75867;REN75868;REN75869;REN75870;REN75871;REN75872;REN75873;REN75874;REN75875;REN75876;REN75877;REN75878;REN75879;REN75880;REN75881;REN75882;REN75883;REN75884;REN75885;REN75886;REN75887;REN75888;REN75889;REN75890;REN75891;REN75892;REN75893;REN75894;REN75895;REN75896;REN75897;REN75898;REN75899;stSG602406;stSG602407;stSG602408;stSG602409;stSG602410;stSG602411;stSG602412;stSG602413;stSG602414;stSG602416 HSN44A4A OTTHUMP00000028906;hypothetical protein LOC25775;uncharacterized protein C22orf24 protein-coding ENSG00000128254 HGNC:23051 PREDICTED 1606236 C22orf46 chromosome 22 open reading frame 46 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH methyl methanesulfonate; paracetamol 22 22 22 q13.2 25892983 25900572 + 42086547 42094140 + 41690543 41698136 + 6480464;8554872 12477932;14702039;15231748;21832049 79640 C9J442;Q9H5C5 ABBA01055651;AK027237;AK095008;AK131457;AMYH02038447;BC007210;BC035403;CH471095;NM_001142964;Z83840 AAH07210;BAB15702;BAD18602;C9J442;EAW60455;EAW60457;NP_001136436 Hs.517653 1681004 RH74961 FLJ23584 CTA-216E10.6;OTTHUMP00000199327;putative uncharacterized protein C22orf46;uncharacterized protein C22orf46 APPROVED protein-coding ENSG00000184208 HGNC:26294 08037 VALIDATED 1604988 C22orf42 chromosome 22 open reading frame 42 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; trichostatin A 22 22 22 q12.3 16345977 16355751 - 32544993 32555510 - 32149006 32159523 - 6480464;8554872 12477932;15461802 150297 Q6IC83 ABBA01055365;AL008723;AMYH02038264;BC040263;CH471095;CR456485;NM_001010859;XM_005261369;Z83839 AAI39846;CAG30371;EAW60007;EAW60008;NP_001010859;Q6IC83;XP_005261426 Hs.426551 1799346;1802284;1803558;1803560;1806582;1819172;1824484;1824628;1826498;1831202;1845974;2011630;2011632;2011634;2011636;2011638;2011640;2011642;2011644;2011646;2011648;2011650;2011652;2011654;2011656;2011658;2011660;2011662;2011664;2011666;2011668;2011670;2011672;2011674;2011676;2011678;2011680;2011682;2011684;2011686;2011688;2011690;2011692;2011694;2011696;2011698;2011700;2011702;2011704;2011706;2098350;2098352;2098354;2098356;2098358;2098360;2098362;5112884;5121975 ECD00522;ECD02026;ECD02680;ECD02681;ECD04248;ECD10653;ECD13340;ECD13412;ECD14363;ECD16737;ECD20124;ECD24207;REN76741;REN76742;REN76743;REN76744;REN76745;REN76746;REN76747;REN76748;REN76749;REN76750;REN76751;REN76752;REN76753;REN76754;REN76755;REN76756;REN76757;REN76758;REN76759;REN76760;REN76761;REN76762;REN76763;REN76764;REN76765;REN76766;REN76767;REN76768;REN76769;REN76770;REN76771;REN76772;REN76773;REN76774;REN76775;REN76777;REN76778;REN76779;REN76780;REN76781;stSG602559;stSG602560;stSG602561;stSG602563;stSG602564;stSG602565;stSG602566 RP1-127L4.6;dJ90G24.6 OTTHUMP00000028678;uncharacterized protein C22orf42 protein-coding ENSG00000205856 HGNC:27160 14087 PROVISIONAL 2303885 C22orf34 chromosome 22 open reading frame 34 22 22 22 q13.33 33934897 33972840 - 50013290 50051190 - 49619642 49657542 - 12477932;16344560;24159190;24529757 348645 A6ZJ96;C9JIL5;F2Z342;F2Z3N5;H7C0R5;Q6ZV56 ABBA01031331;ABBA01031332;AK124962;AK126430;AL008636;AL031593;AMYH02038579;BC033837;BC048207;BC118575;BM051939;DA235633;DB070218;KF457513;KF457517;KF511471;LN608963;LN608967;LN608968;NM_001289922;NR_026997;NR_110522;NR_110523;XR_244451;XR_249058;XR_254110;Z82189;Z97192 BAC86548;NP_001276851;Q6ZV56 Hs.133159;Hs.397890 1693530;1714195 RH119708;SHGC-58440 uncharacterized protein C22orf34 protein-coding ENSG00000188511 HGNC:28010 14180 VALIDATED 1604374 C22orf31 chromosome 22 open reading frame 31 ASSOCIATED WITH Melanoma (inferred) 22 22 22 q12.1 13254591 13257838 - 29454660 29457922 - 29058672 29061934 - 8554872 10591208;12477932;12529303;15461802;15489334;18029348;20379614 25770 O95567 ABBA01055254;AL021393;AL035364;AMYH02038197;BC074758;BC126262;BC126264;CH471095;CR456405;NM_015370;XM_005261490;XM_005261491 AAH74758;AAI26263;AAI26265;ABZ92316;ADR82916;ADR82921;CAA23017;CAG30291;EAW59772;NP_056185;O95567;XP_005261547;XP_005261548 Hs.50891 1684712;1747413;1747415;2166916;2219144 G65433;G65434;HS747E2A__6596;RH98220;SHGC-37725 HS747E2A;bK747E2.1 OTTHUMP00000198941;hypothetical protein LOC25770;uncharacterized protein C22orf31 protein-coding ENSG00000100249 HGNC:26931 11031 PREDICTED 1606712 C2CD4A C2 calcium-dependent domain containing 4A FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; cyclosporin A; progesterone 15 15 15 q22.2 39248417 39252360 + 62359176 62363116 + 62066977 62070917 + 6480464 15527968;16341674;20818381;20881960;21799836;21873549;23522043;23945395 145741 Q8NCU7 ABBA01038928;AC104590;AF504646;AMYH02030574;BF196228;BM742013;BX648578;CH471082;NM_207322 AAI72259;AAM28197;EAW77609;NP_997205;Q8NCU7 Hs.202656 DKFZp686O2263;FAM148A;NLF1 C2 calcium-dependent domain-containing protein 4A;family with sequence similarity 148, member A;nuclear localized factor 1;nuclear-localized factor 1 APPROVED protein-coding ENSG00000198535 HGNC:33627 14830 610343 VALIDATED 1604924 C2CD4B C2 calcium-dependent domain containing 4B FOUND IN focal adhesion; nucleolus; INTERACTS WITH amiodarone; medroxyprogesterone acetate; silicon dioxide 15 15 15 q22.2 39344987 39346711 - 62455734 62458359 - 62163538 62165283 - 6480464 15527968;16341674;16344560;18029348;20081858;20185807;20419449;20571754;20818381;20862305;21799836;21873549;22885067;23945395;8889548 388125 A6NLJ0 ABBA01038928;AC126323;AMYH02030574;AW292865;BM023530;BM127548;BM850957;BM974537;BQ101161;BX109954;DA584890;NM_001007595 A6NLJ0;AAI72378;NP_001007596 Hs.144372 FAM148B;NLF2 C2 calcium-dependent domain-containing protein 4B;family with sequence similarity 148, member B;nuclear localized factor 2;nuclear-localized factor 2 APPROVED protein-coding ENSG00000205502 HGNC:33628 17636 610344 VALIDATED 1607065 C2CD3 C2 calcium-dependent domain containing 3 INVOLVED IN centriole elongation; nonmotile primary cilium assembly; protein localization to centrosome; ASSOCIATED WITH Abnormal facial shape (inferred); Cleft palate (inferred); Hypoplasia of the corpus callosum (inferred); FOUND IN centriolar satellite; centriole; centrosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsane; arsenic atom 11 11 11 q13.4 71052284 71188859 - 73723759 73882064 - 74012714 74171019 - 6480464;8554872;8699517 12477932;14702039;16344560;21139048;21906983;24250222 26005 F5H0U2;H0YFM6;H0YG44;H7BZB4;H7C288;Q4AC94 AB231763;AB231764;ABBA01017494;ABBA01017495;ABBA01017496;ABBA01017497;AI873280;AK091397;AK092089;AK125894;AL080220;AL833903;AMYH02025102;AMYH02025103;AP002392;AP003717;BC035599;BC110508;BM460060;CD369754;DB068715;DB078025;KF495682;NM_001286577;NM_015531;XM_005273893;XM_005273895;XM_005273896;XM_005273897;XM_006718495 AAH35599;AAI10509;BAC03654;BAC03802;BAC86334;BAE17137;BAE46898;CAB45779;CAD38759;NP_001273506;NP_056346;Q4AC94;XP_005273950;XP_005273952;XP_005273953;XP_005273954;XP_006718558 Hs.557938;Hs.694798 1665606;1686538;1724119;1735096;1737987;2148653;2176309;2180121;5126134 A008X42;D11S3588;D11S944E;D3S2776E;RH119059;RH26881;RH36451;RH66358;WI-18676 DKFZp586P0123;FLJ34770;OFD14 C2 domain-containing protein 3;OTTHUMP00000237955 protein-coding ENSG00000168014 HGNC:24564 16811 615944;615948 VALIDATED 1351796 C2CD2 C2 calcium-dependent domain containing 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; nucleus; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; cytarabine 21 21 21 q22.3 28452727 28521539 - 43305219 43374066 - 41885110 41953890 - 6480464;8554872 10830953;12477932;15289880;16780588;19322201;20494980;21139048;24057671 25966 H7BZB0;Q9Y426 AB047784;AB047785;ABBA01014181;AI143200;AI298951;AK125120;AK128550;AK129520;AL050173;AL833323;AMYH02037870;AP001619;AP001745;BC020927;BC035070;BC062323;CH471079;CR627455;NM_015500;NM_199050;R13033;XM_005261106;XM_005261107;XM_005261109 AAH62323;BAA95528;BAC85176;BAD74068;BAD74069;BAG54149;BAG54693;CAB43307;CAH10536;EAX09582;EAX09583;NP_056315;NP_950251;Q9Y426;XP_005261163;XP_005261164;XP_005261166 Hs.473894;Hs.675058 1663454;1689963;1696920;1723063;1735034;2122441;2165608;2185052;2185641;5015961;5105797 D15S1477;D21S1728E;D21S1863;D5S2584;G34529;RH101928;RH121883;RH45596;RH79573;SHGC-147283;WI-20893 C21orf25;C21orf258;DKFZp586F0422;DKFZp686O198;MGC71445;TMEM24L C2 domain-containing protein 2;OTTHUMP00000109276;OTTHUMP00000204005;TMEM24 related geme;TMEM24-like protein-coding ENSG00000157617 HGNC:1266 10745 VALIDATED 1321089 C2CD2L C2CD2-like ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; diazinon 11 11 11 q23.3 116135506 116145233 + 118977771 118988304 + 119107061 119117124 + 737633;1580863;6480464;8554872 12477932 12168954;15289880;15489334;16368544;17081983;21139048;24012759;9179496 9854 E9PK05;O14523 AB006623;AB094094;ABBA01039679;AK025223;AMYH02025661;AP003391;BC003598;BC010071;BC021254;BC022219;BC033083;BC040131;BC052246;BC075832;BX327704;BX537572;CA309483;CH471065;DA768421;DA801995;NM_001290474;NM_014807;XM_005271738;XM_005271739;XM_005271740;XM_005271741;XM_005271742;XM_006718948 AAH03598;AAH10071;AAH21254;AAH22219;AAH33083;AAH52246;AAH75832;BAA22954;BAC76048;EAW67456;EAW67457;EAW67458;EAW67459;NP_001277403;NP_055622;O14523;XP_005271795;XP_005271796;XP_005271797;XP_005271798;XP_005271799;XP_006719011 Hs.26899 1731477;1737757;1850503;2109977;5015404 D11S3352;D11S368;L17705;RH15998;TMEM24_9007 DLNB23;KIAA0285;TMEM24 C2 domain-containing protein 2-like;OTTHUMP00000232079;OTTHUMP00000232080;transmembrane protein 24 APPROVED protein-coding HGNC:29000 15533 VALIDATED 1354289 C2orf12 chromosome 2 open reading frame 12 q24.3 12477932;15489334;15815621 192137 Q8TDM3 AC092153;AL117617;BC065192;BC069687;BC069706;BC069763;BC080620;XM_938663;XM_944033 AAH65192;AAH69687;AAH69706;AAH69763;AAH80620;AAX93094;Q8TDM3;XP_943756;XP_949126 Hs.470412 DKFZp564H0764;HCC-4 protein-coding HGNC:24242 1351171 C2CD4C C2 calcium-dependent domain containing 4C INTERACTS WITH aflatoxin B1; potassium dichromate (ortholog) 19 19 19 p13.3 405821 409548 + 405443 409170 - 405438 409170 - 6480464 11853319;15527968;23251661 126567 Q8TF44 AB075837;ABBA01002560;AC008988;AL834341;AMYH02035107;CH471242;NM_001136263;XM_006722649 BAB85543;CAD39008;EAW61198;EAW61199;EAW61200;NP_001129735;Q8TF44;XP_006722712 Hs.223770 2180228 WI-14847 FAM148C;KIAA1957;NLF3 C2 calcium-dependent domain-containing protein 4C;family with sequence similarity 148, member C;nuclear localized factor 3;nuclear-localized factor 3 APPROVED protein-coding ENSG00000183186 HGNC:29417 610336 VALIDATED 736134 C2CD5 C2 calcium-dependent domain containing 5 ENCODES a protein that exhibits calcium ion binding; calcium-dependent phospholipid binding; INVOLVED IN cellular response to insulin stimulus; intracellular protein transmembrane transport; positive regulation of protein targeting to membrane; FOUND IN cell cortex; cytoplasmic vesicle membrane; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; copper(2+) sulfate 12 12 12 p12.1 27749342 27845274 - 22601511 22697452 - 22448546 22544546 - 6480464 12477932;15302935;15489334;17081983;17353931;19322201;21139048;21853274;21907143;22939629;23455922;23602568;24255178;25096995;9628581 9847 B7ZLK1;H0YFC4;H0YFE9;H0YGU7;Q86YS7 AB011100;ABBA01067986;AC053513;AK295862;AK299353;AK310753;AMYH02026180;AW590675;AY166851;BC042498;BC053885;BC117143;BC143859;BC143860;BC143878;BP418369;BX648560;CH471094;DC333318;NM_001286173;NM_001286174;NM_001286175;NM_001286176;NM_001286177;NM_014802;XM_005253538;XM_005253539;XM_006719164;XM_006719165;XM_006719166;XM_006719167;XM_006719168;XM_006719169;XM_006719170 AAH42498;AAH53885;AAI17144;AAI43860;AAI43861;AAI43879;AAO17290;BAA25454;BAG58665;BAG61349;EAW96473;EAW96474;EAW96475;EAW96476;NP_001273102;NP_001273103;NP_001273104;NP_001273105;NP_001273106;NP_055617;Q86YS7;XP_005253595;XP_005253596;XP_006719227;XP_006719228;XP_006719229;XP_006719230;XP_006719231;XP_006719232;XP_006719233 Hs.271014 1678365;1680547 RH36754;RH76458 CDP138;DKFZp779N2044;KIAA0528 138 kDa C2 domain-containing phosphoprotein;C2 domain-containing phosphoprotein of 138 kDa;C2 domain-containing protein 5;OTTHUMP00000240092;OTTHUMP00000240093;OTTHUMP00000240094;OTTHUMP00000240095;OTTHUMP00000240096;OTTHUMP00000240097;hypothetical protein LOC9847;phosphatidylinositol glycan, class l;uncharacterized protein KIAA0528 APPROVED protein-coding ENSG00000111731 HGNC:29062 11087 VALIDATED 1347260 C2orf20 chromosome 2 open reading frame 20 394262 BC009491 HGNC:31020 1349020 C2orf15 chromosome 2 open reading frame 15 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH copper(2+) sulfate; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q11.2 93962876 93972638 + 99758185 99767950 + 99141722 99151487 + 6480464 12477932;15489334;15815621;21926972;24250222 150590 Q8WU43 ABBA01073951;ABBA01073952;AC092587;AK314133;AMYH02004395;BC021264;CH471127;NM_144706 AAH21264;AAX88926;ABM83537;ABM86777;BAG36823;EAX01893;NP_653307;Q8WU43 Hs.352211 FLJ44438;MGC29762 OTTHUMP00000161214;OTTHUMP00000203295;hypothetical protein LOC150590;uncharacterized protein C2orf15 protein-coding ENSG00000273045 HGNC:28436 12806 PREDICTED 3563711 C2CD4D C2 calcium-dependent domain containing 4D INTERACTS WITH benzo[a]pyrene (ortholog); C60 fullerene (ortholog); cadmium dichloride (ortholog) 1 1 1 q21.3 124925032 124927726 - 151810339 151813033 - 151837863 151840557 - 6480464 12477932 100191040 B7Z1M9 ABBA01049405;AK293673;AL589765;AMYH02001889;BC157847;BC171843;DC305608;NM_001136003 AAI57848;AAI71843;B7Z1M9;BAH11565;NP_001129475 Hs.694717 2179324 RH48909 FAM148D;MGC189742 C2 calcium-dependent domain-containing protein 4D;OTTHUMP00000235505;family with sequence similarity 148, member D protein-coding ENSG00000225556 HGNC:37210 VALIDATED 3051032 C2orf27AP1 chromosome 2 open reading frame 27A pseudogene 1 Y Y 13241152 13241737 - 11085476 11086061 - 100420811 ABBA01013637;AC140113;NG_021911 pseudo HGNC:38413 INFERRED 8553168 C2orf27AP3 chromosome 2 open reading frame 27A pseudogene 3 9 9 42266973 42267558 + 40121955 40122540 + 100420784 AL773545;NG_023900 pseudo HGNC:50418 INFERRED 8548732 C2orf27AP2 chromosome 2 open reading frame 27A pseudogene 2 9 9 9 p21.1 30599817 30600412 - 30670985 30671580 - 30670987 30671582 - 100131855 ABBA01065098;AL390844;AMYH02019390;NG_021611 pseudo HGNC:49813 INFERRED 1344280 C2orf31 chromosome 2 open reading frame 31 737633 12477932 11230166 81561 AL136852 HGNC:25264 1352942 C2orf16 chromosome 2 open reading frame 16 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; nucleus 2 2 2 p23.3 27644817 27651017 + 27799389 27805589 + 27576522 27582722 + 8554872 11230166;12477932;15815621;17081983;19056867;20705733;21386085;22001757;23362303;23505323 84226 Q68DN1 ABBA01045211;AC074091;AL136898;AL834384;AMYH02003480;BC115376;BC115377;BC140828;CH471053;CR749335;NM_032266 AAI15377;AAI40829;AAX93198;CAB66832;CAD39047;CAH18189;EAX00566;NP_115642;Q68DN1 Hs.131021 DKFZp434G118;DKFZp781D2023 OTTHUMP00000214070;P-S-E-R-S-H-H-S repeats containing;hypothetical protein LOC84226;uncharacterized protein C2orf16 protein-coding ENSG00000221843 HGNC:25275 09849 VALIDATED 1353501 C2orf27A chromosome 2 open reading frame 27A INTERACTS WITH arsane; arsenic atom; paraoxon 2 2 2 q21.2 126204833 126250421 + 132479973 132524977 + 131722400 131767404 + 6480464 12477932;15489334;15815621;8619474;9110174 29798 Q580R0 ABBA01028227;AC093724;AC226740;AC244624;AF038169;AI302788;AI418663;BC071972;BC093716;BC112189;CH471058;NM_013310;XM_005263649;XM_006724987;XM_006724988 AAB97362;AAH93716;AAI12190;AAX82001;EAX11684;EAX11685;EAX11686;NP_037442;Q580R0;XP_005263706;XP_006725050;XP_006725051 Hs.635289;Hs.655680 2185223;5113679 RH11944;RH99290 C2orf27;C2orf27B;MGC138394 OTTHUMP00000162444;hypothetical protein LOC29798;uncharacterized protein C2orf27 protein-coding ENSG00000197927 HGNC:25077 12811 VALIDATED 1603029 C2orf42 chromosome 2 open reading frame 42 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; elemental selenium; formaldehyde 2 2 2 p13.3 70227826 70268958 - 70377017 70418151 - 70149885 70191019 - 6480464;8554872 12477932;22990118;23251661 54980 C9J4L7;C9J5U1;C9JJF4;C9JK51;C9JKD5;C9JS43;C9JV10;C9JZF3;Q9NWW7 ABBA01075526;ABBA01075527;ABBA01075528;ABBA01075529;AC016700;AK000565;AK026303;AL136834;AMYH02004035;AX405738;BC002825;BC005079;CH471053;NM_017880;XM_005264389;XM_005264390;XM_005264391;XR_244943 AAH02825;AAH05079;AAX93192;BAA91258;BAB15438;CAB66768;CAD34845;EAW99828;EAW99829;EAW99830;EAW99831;NP_060350;Q9NWW7;XP_005264446;XP_005264447;XP_005264448 Hs.720049 FLJ20558 OTTHUMP00000160044;OTTHUMP00000203977;hypothetical protein LOC54980;uncharacterized protein C2orf42 protein-coding ENSG00000115998 HGNC:26056 07927 PREDICTED 1605056 C2orf43 chromosome 2 open reading frame 43 INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; copper(2+) sulfate 2 2 2 p24.1 20747203 20885172 - 20883788 21022890 - 20684014 20823130 - 6480464 12477932;14702039;17135363;17207965;20339536;20379614;20676098;21059979;21139048;21890473;21906983;22662242;24357060 60526 B4DRG3;B4DS38;B4DWE2;B5MCE2;B5MCU4;B5MDU6;C9JHU6;C9JUM0;D3YTH1;Q9H6V9 ABBA01018472;ABBA01018473;AC012065;AC012361;AK021672;AK025473;AK299244;AK299555;AK300494;AK301493;AK316162;AK316204;AK316310;AL137397;AMYH02003374;AW243875;BC017473;CH471053;DC421670;NM_001282719;NM_001282720;NM_001282721;NM_001282722;NM_001282723;NM_001282724;NM_021925;NR_104233;XR_426990;XR_426991;XR_426992 AAH17473;AAX93236;AAY14959;ADQ31891;BAB15142;BAG61275;BAG61500;BAG62208;BAG63004;BAH14533;BAH14575;BAH14681;EAX00806;EAX00807;EAX00808;EAX00809;EAX00810;NP_001269648;NP_001269649;NP_001269650;NP_001269651;NP_001269652;NP_001269653;NP_068744;Q9H6V9 Hs.187823 1659222;1674343;1687746;1776795;1790727;1790731;1850439;2144350;2171213;2178552;2182136 AFMa070za9;B293ZC9;RH44584;RH65141;RH66466;RH99120;SHGC-12237;SHGC-33648;STS-ETM1231;STS-ETM1240;WI-11147 FLJ21820 OTTHUMP00000151184;OTTHUMP00000151185;UPF0554 protein C2orf43;hypothetical protein LOC60526 protein-coding ENSG00000118961 HGNC:26145 07113 613570 VALIDATED 1601962 C2orf44 chromosome 2 open reading frame 44 INTERACTS WITH thioacetamide (ortholog) 2 2 2 p23.3 24092585 24110627 - 24252206 24270296 - 24029336 24047426 - 6480464 12029088;12477932;16051665;16169070;16344560;17353931;18218781;19197348;19596235;20360068;21900206;22327622;23455922;23602568;24778252;24816145 80304 C9JYC1;Q9H6R7 ABBA01045100;ABBA01045101;AC104665;AF218013;AI800484;AK025598;AMYH02003410;BC035698;CH471053;CX756689;DB292134;NM_001142319;NM_025203 AAG17255;AAH35698;AAY24115;BAB15186;EAX00771;EAX00772;NP_001135791;NP_079479;Q9H6R7 Hs.24624 1681245;1682251;1694540;1770027;2168809 G43158;RH36907;RH79240;RH93548;STS-R16779 FLJ21945;PP384 OTTHUMP00000155153;OTTHUMP00000200748;WD repeat-containing protein C2orf44 protein-coding ENSG00000163026 HGNC:26157 07972 VALIDATED 1603606 C2orf40 chromosome 2 open reading frame 40 INVOLVED IN cellular senescence (inferred); cyclin catabolic process (inferred); G1 to G0 transition (inferred); FOUND IN cytoplasmic vesicle (inferred); extracellular space (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; silicon dioxide 2 2 2 q12.2 100882549 100895038 + 106682113 106694611 + 106064298 106078155 + 6480464 12477932;12800218;12975309;15489334;15815621;17284679;17786363;18029348;19521989;20017917;20598162;21288367;21436262;21935431;22110708;22325214;22411956;22526622;22626786;22901147;23553029;23770814;23957914;24058526 84417 B8ZZE5;C9JRR0;Q9H1Z8 ABBA01073844;ABBA01073845;ABBA01073846;AC018878;AF325503;AMYH02004483;AMYH02004484;AY358601;BC021742;CH471127;CS072958;FB740500;NM_032411;XM_006712799 AAG42321;AAH21742;AAQ88964;AAY15084;ABM83338;ABM86552;CAI93686;CAX20415;EAX01751;EAX01752;NP_115787;Q9H1Z8;XP_006712862 Hs.43125 1663737 RH69278 ECRG4 OTTHUMP00000161527;OTTHUMP00000203230;OTTHUMP00000203231;augurin;esophageal cancer related gene 4 protein;esophageal cancer-related gene 4 protein protein-coding ENSG00000119147 HGNC:24642 13261 611752 VALIDATED 1603199 C2orf47 chromosome 2 open reading frame 47 FOUND IN mitochondrion (inferred); INTERACTS WITH atrazine; hydrogen peroxide; paracetamol 2 2 2 q33.1 194574744 194583552 + 200820040 200828848 + 199955317 199964125 + 6480464 12477932;17207965;19176441;20360068;20877624;21139048;21832049;21890473;21963094;23000965;23503679;23752268;23974872 79568 H7C0V0;Q8WWC4 ABBA01062509;AC097717;AK026208;AL832964;AMYH02005533;BC017959;BQ448209;CH471063;NM_024520;XM_005246852;XR_427111 AAH17959;AAY24163;ADQ32132;BAB15393;CAH56348;EAW70195;EAW70196;NP_078796;Q8WWC4;XP_005246909 Hs.154494 2172917 RH78324 DKFZp666A212;FLJ22555 OTTHUMP00000163659;hypothetical protein LOC79568;uncharacterized protein C2orf47, mitochondrial protein-coding ENSG00000162972 HGNC:26198 07994 VALIDATED 1601786 C2orf27B chromosome 2 open reading frame 27B INTERACTS WITH diazinon 2 2 2 q21 126249636 126283838 + 132552534 132559234 - 131794961 131801661 - 12477932;17207965;23275563 408029 Q580R0 ABBA01028227;AC103564;AC226740;AC244624;BC043584;LN607933;NM_214461 AAH43584;AAY24065;ADQ33114;NP_999626 Hs.145567 2185223;5113679 RH11944;RH99290 MGC50273 OTTHUMP00000206272;hypothetical protein LOC408029;uncharacterized protein LOC408029 protein-coding ENSG00000186825 HGNC:33824 14664 PREDICTED 1606097 C2orf48 chromosome 2 open reading frame 48 2 2 2 p25.1 10197558 10267755 + 10281509 10351856 + 10141854 10210816 + 12477932;14702039;15489334;23535732 348738 Q96LS8 ABBA01015606;ABBA01015607;ABBA01015608;AC007240;AK057831;AMYH02003265;AMYH02003266;BC093999;BC094001;CH471053;KF510746;LN607907;NM_182626 AAH93999;AAH94001;BAB71592;EAX00967;NP_872432;Q96LS8 Hs.454981 1687882 RH92352 FLJ25102 OTTHUMP00000147547;hypothetical protein LOC348738;uncharacterized protein C2orf48 protein-coding HGNC:26322 08049 PREDICTED 1605342 C2orf54 chromosome 2 open reading frame 54 INTERACTS WITH (+)-catechin; 17beta-estradiol; aflatoxin B1 2 2 2 q37.3 235498112 235508356 - 241825465 241836267 - 240886048 240896156 - 6480464 12477932;14702039 79919 B3KU29;C9JEK0;C9JP86;Q08AI8 ABBA01006034;AC104809;AK026324;AK055735;AK056601;AK096434;AMYH02006102;BC125154;BC125155;CH471063;NM_001085437;NM_001282921;NM_024861 AAI25155;AAI25156;AAY24169;BAB15445;BAG51761;BAG53291;EAW71218;EAW71219;EAW71220;NP_001078906;NP_001269850;NP_079137;Q08AI8 Hs.193745 1763313;1773572;1779414 RH64976;SHGC-147042;SHGC-153404 FLJ22671;MGC150431;MGC150432 OTTHUMP00000200750;OTTHUMP00000200751;OTTHUMP00000200752;hypothetical protein LOC79919;uncharacterized protein C2orf54 protein-coding ENSG00000172478 HGNC:26216 08003 VALIDATED 1604753 C2orf50 chromosome 2 open reading frame 50 2 2 2 p25.1 11188994 11202728 + 11273179 11286916 + 11133053 11154569 + 12477932;22779921;23319000 130813 Q96LR7 ABBA01015641;ABBA01015642;AC018463;AC062028;AK057872;AK292828;AMYH02003280;BC120930;CH471053;NM_182500;XM_006711857;XM_006711858;XM_006711859;XM_006711860 AAI20931;BAB71603;BAF85517;EAX00943;EAX00944;NP_872306;Q96LR7;XP_006711920;XP_006711921;XP_006711922;XP_006711923 Hs.406894 FLJ25143;MGC149401 OTTHUMP00000147596;OTTHUMP00000200414;hypothetical protein LOC130813;uncharacterized protein C2orf50 protein-coding ENSG00000150873 HGNC:26324 08051 VALIDATED 1604297 C2orf49 chromosome 2 open reading frame 49 INVOLVED IN embryonic morphogenesis (inferred); FOUND IN tRNA-splicing ligase complex; INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; cyclosporin A 2 2 2 q12.1 100154460 100162431 + 105953714 105976514 + 105337359 105360051 + 6480464 12477932;15489334;15815621;16680723;17081983;21832049;22174317;22939629;22944692;22990118 79074 C9J4K0;Q9BVC5 ABBA01073858;AC012360;AK127661;AK304268;AK307891;AMYH02004471;BC001310;BQ003369;CH471127;NM_001286537;NM_024093;XM_005264019;XM_005264020 AAH01310;AAY15011;ABM82138;ABM85321;BAG54545;BAG65131;EAX01763;NP_001273466;NP_076998;Q9BVC5;XP_005264076;XP_005264077 Hs.549577 1689773;5022322;5037552 D11S2560;D8S2279;RH26023 FLJ45759;MGC5509;asw OTTHUMP00000161377;OTTHUMP00000203145;ashwin protein-coding ENSG00000135974 HGNC:28772 14688 VALIDATED 1602960 C2orf61 chromosome 2 open reading frame 61 INTERACTS WITH (+)-catechin 2 2 2 p21 47152977 47221350 - 47314130 47382517 - 47086991 47155378 - 14702039;16344560;20339536;20379614 285051 H7C3W9;Q8N801 ABBA01075150;ABBA01075151;ABBA01075152;ABBA01075153;AC073283;AK097491;AMYH02003749;AMYH02003750;CH471053;DA313162;NM_001163561;NM_173649 AAI72329;AAY24084;BAC05075;EAX00224;EAX00225;NP_001157033;NP_775920;Q8N801 Hs.531575 FLJ40172 OTTHUMP00000159071;OTTHUMP00000203195;hypothetical protein LOC285051;uncharacterized protein C2orf61 protein-coding ENSG00000239605 HGNC:26850 08273 VALIDATED 1606379 C2orf68 chromosome 2 open reading frame 68 INTERACTS WITH benzo[a]pyrene; trichostatin A; valproic acid 2 2 2 p11.2 85660660 85667462 - 85832376 85839179 - 85605253 85612056 - 6480464 12477932;14702039;15146197;19322201;21874238;23404111;25023051 388969 F6S878;H7C1Q5;L7T9J5;Q2NKX9 ABBA01075761;AC012454;AC016753;AK024174;AK092972;AK124808;AK300003;AK311297;AMYH02004184;AMYH02004185;BC057834;BC111483;BU619982;CH471053;CN303296;JX960761;NM_001013649;XM_005264304;XM_005264305;XM_005264306 AAI11484;AGC31581;BAC85956;BAG61822;EAW99495;NP_001013671;Q2NKX9;XP_005264361;XP_005264362;XP_005264363 Hs.516159 1675078;2148268;5014051;5015619;5016596;5020274;5021872;5022200;5022450;5022578;5022651;5037552;5037554 D10S275;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;D8S2282;GDB:631802;L18426;L18441;SHGC-32166;WI-17158;sY3084 FLJ14112;FLJ35653;HCRCN81;MGC131675 OTTHUMP00000203084;UPF0561 protein C2orf68;hypothetical protein LOC388969 protein-coding HGNC:34353 18391 VALIDATED 1602399 C2orf66 chromosome 2 open reading frame 66 FOUND IN extracellular region (inferred) 2 2 2 q33.1 191425877 191430868 - 197669139 197675000 - 196804415 196810276 - 12477932;12975309 401027 Q6UXQ4 ABBA01062462;AC012486;AMYH02005511;AW768745;AY358249;BC137150;BC137151;CH471063;NM_213608 AAI37151;AAI37152;AAQ88616;EAW70135;NP_998773;Q6UXQ4 Hs.245666;Hs.372069 IIDS6411;UNQ6411 OTTHUMP00000163620;hypothetical protein LOC401027;uncharacterized protein C2orf66 protein-coding HGNC:33809 13734 VALIDATED 1606945 C2orf57 chromosome 2 open reading frame 57 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine 2 2 2 q37.1 226233973 226235392 + 232457575 232458994 + 231592864 231594283 + 8554872 12477932;20379614;21832049 165100 Q53QW1 ABBA01002055;AC104634;AMYH02005972;BC034405;BC063389;CH471063;NM_152614 AAH34405;AAH63389;AAY24071;ABM82214;ABM85398;EAW70967;NP_689827;Q53QW1 Hs.98104 1685782 RH92133 MGC35154 OTTHUMP00000164298;hypothetical protein LOC165100;uncharacterized protein C2orf57 protein-coding ENSG00000177673 HGNC:28563 14602 VALIDATED 2298740 C2orf72 chromosome 2 open reading frame 72 INTERACTS WITH benzo[a]pyrene; paracetamol; quercetin 2 2 2 q37.1 225677793 225689941 + 231902281 231914429 + 231037566 231049714 + 6480464 11752456;15815621;16344560;8619474;9110174 257407 A6NCS6 ABBA01002064;ABBA01002065;ABBA01002066;AC009407;AF007149;AF070612;AF086098;AMYH02005961;AMYH02005962;AMYH02005963;AV658788;DA141613;DB303203;NM_001144994 A6NCS6;NP_001138466 Hs.526596;Hs.551993 1645816;1850415;2147917;2167650;5022578 A007A45;D1S1423;RH16222;RH67878;SHGC-34388 OTTHUMP00000204821;hypothetical protein LOC257407;uncharacterized protein C2orf72 protein-coding ENSG00000204128 HGNC:27418 VALIDATED 1603539 C2orf69 chromosome 2 open reading frame 69 FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 2 2 2 q33.1 194531108 194547696 + 200775979 200792996 + 199911256 199928273 + 6480464 12477932;14702039;16344560;17207965;23974872;24654937 205327 Q8N8R5 ABBA01062508;AC097717;AK096292;AMYH02005532;AMYH02005533;BC036456;CH471063;DA773166;NM_153689 AAH36456;AAY24161;ADQ31601;BAC04749;EAW70190;NP_710156;Q8N8R5 Hs.471040 1658121;1734736;2129723;2185435 D2S1523E;RH45770;RH69327;SHGC-31000 FLJ38973 OTTHUMP00000205792;UPF0565 protein C2orf69;hypothetical protein LOC205327 protein-coding ENSG00000178074 HGNC:26799 08797 VALIDATED 2298744 C2orf71 chromosome 2 open reading frame 71 The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010] 2 2 2 p23.2 29128955 29141525 - 29284556 29297127 - 29061690 29074261 - 6480464;7240710;8554872;8699517 14702039;20125088;20301590;20398884;20398886;20811058;21412943;24780881;8889548 388939 A6NGG8 ABBA01045243;AC105398;AK092250;AMYH02003505;BM669582;CH471053;NG_021427;NM_001029883 A6NGG8;EAX00517;NP_001025054 Hs.354243 FLJ34931;RP54 OTTHUMP00000201019;uncharacterized protein C2orf71 APPROVED protein-coding ENSG00000179270 HGNC:34383 613425;613428 REVIEWED 2298736 C2orf74 chromosome 2 open reading frame 74 FOUND IN integral component of membrane (inferred); INTERACTS WITH cyclosporin A; methyl methanesulfonate; valproic acid 2 2 2 p15 61215846 61236014 + 61372221 61391964 + 61145088 61164829 + 6480464 12477932;21102463;21988832;22412388;23128233;24250222 339804 A8MZ97;C9JBF1 ABBA01075346;ABBA01075347;AC016747;AMYH02003919;BC014578;NM_001143959;NM_001143960;XM_005264287;XM_005264288;XM_005264289;XM_005264290 A8MZ97;NP_001137431;NP_001137432;XP_005264344;XP_005264345;XP_005264346;XP_005264347 Hs.140617 hypothetical protein LOC339804;uncharacterized protein C2orf74 protein-coding ENSG00000237651 HGNC:34439 VALIDATED 2298835 C2orf78 chromosome 2 open reading frame 78 ASSOCIATED WITH Melanoma (inferred) 2 2 2 p13.1 73862173 73875539 + 74011316 74044274 + 73784189 73817147 + 8554872 388960 A6NCI8 ABBA01075585;ABBA01075586;ABBA01075587;AC092653;AC136006;AK125975;AMYH02004076;AMYH02004077;AMYH02004078;AMYH02004079;AMYH02004080;NM_001080474;XM_005264302 A6NCI8;NP_001073943;XP_005264359 Hs.456833 COG5373;FLJ43987;hCG1989538 OTTHUMP00000202508;hypothetical protein LOC388960;uncharacterized protein C2orf78 protein-coding ENSG00000187833 HGNC:34349 PREDICTED 1606162 C2orf76 chromosome 2 open reading frame 76 INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; copper(2+) sulfate 2 2 2 q14.2 113386186 113450397 - 120059793 120124451 - 119301204 119366875 - 6480464 12477932;20205591;20379614;21890473;24250222 130355 C9JTA8;Q3KRA6 ABBA01045926;AC016736;AMYH02004646;BC047365;BC062434;BC105805;BC126395;BC126397;BC144012;BC144014;BC171737;CH471103;NM_001017927;XM_005263594;XM_005263595;XM_006712267 AAH47365;AAI05806;AAI26396;AAI26398;AAI44013;AAI71737;ADR82800;EAW95213;NP_001017927;Q3KRA6;XP_005263651;XP_005263652;XP_006712330 Hs.99488 1678093 RH48926 AIM29;MGC104437 OTTHUMP00000203619;OTTHUMP00000203620;OTTHUMP00000203621;OTTHUMP00000203622;UPF0538 protein C2orf76;hypothetical protein LOC130355 protein-coding ENSG00000186132 HGNC:27017 18547 PREDICTED 2298832 C2orf80 chromosome 2 open reading frame 80 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH trichostatin A 2 2 2 q34 202798308 202823009 - 209030071 209054969 - 208165347 208190245 - 6480464;8554872 12477932;20080650;22080834;24055526 389073 C9J2L1;C9J2S2;C9JAS9;C9JTX0;H7BZF5;H7C2Y3;Q0P641 ABBA01062701;ABBA01062702;ABBA01062703;ABBA01062704;AC016697;AMYH02005659;AW136505;BC035737;CH471063;DB541912;NM_001099334;XM_005246546;XM_005246547;XM_006712522 AAH35737;EAW70436;NP_001092804;Q0P641;XP_005246603;XP_005246604;XP_006712585 Hs.198416 GONDA1 OTTHUMP00000206606;OTTHUMP00000206607;OTTHUMP00000206674;gonad development associated 1;hypothetical protein LOC389073;uncharacterized protein C2orf80 protein-coding ENSG00000188674 HGNC:34352 615536 VALIDATED 2298820 C2orf70 chromosome 2 open reading frame 70 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus 2 2 2 p23.3 26629117 26646026 + 26785427 26802395 + 26562559 26579527 + 8554872 14702039 339778 A6NJV1;B8ZZ55;H7C0N2 ABBA01045184;AC015977;AC108070;AK091483;AMYH02003462;CH471053;NM_001105519;XM_005264286 A6NJV1;EAX00681;NP_001098989;XP_005264343 Hs.407083 1676618 RH99278 OTTHUMP00000203783;OTTHUMP00000214053;UPF0573 protein C2orf70;hypothetical protein LOC339778 protein-coding ENSG00000173557 HGNC:27938 PREDICTED 2298834 C2orf81 chromosome 2 open reading frame 81 INVOLVED IN regulation of transcription, DNA-templated (inferred) 2 2 2 p13.1 74472492 74476033 - 74641303 74644934 - 74414176 74417717 - 15815621 388963 A6NN90;E5RID8;E5RIL7;E5RIT9;E5RJQ4;G3XAA6 ABBA01075600;AC005041;AMYH02004090;BM045416;BX102034;CH471053;NM_001145054 A6NN90;EAW99682;EAW99683;NP_001138526 Hs.445377 1693472 SHGC-57623 hCG40743 OTTHUMP00000226132;Uncharacterized protein ENSP00000290390;hypothetical protein LOC388963;uncharacterized protein C2orf81 protein-coding ENSG00000159239 HGNC:34350 PREDICTED 1606085 C2orf82 chromosome 2 open reading frame 82 FOUND IN cell periphery (inferred); integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; paracetamol; quercetin 2 2 2 q37.1 227499270 227505383 + 233733724 233741111 + 232869014 232876404 + 6480464 12477932;12975309;23453885;23974872 389084 C9K0N5;H7C356;Q6UX34 ABBA01002006;AC016692;AMYH02005994;AY358535;BC035093;BC049848;BC130307;BC130309;CH471063;NM_206895;XM_005246548;XM_005246549 AAI30308;AAI30310;AAQ88899;EAW71021;EAW71022;EAW71023;NP_996778;Q6UX34;XP_005246605;XP_005246606 Hs.657509 1690125;1715601 RH120944;RH94178 MGC163179;MGC163181;UNQ830 ASCL830;OTTHUMP00000164373;OTTHUMP00000203465;hypothetical protein LOC389084;uncharacterized protein C2orf82 protein-coding ENSG00000182600 HGNC:33763 15620 PREDICTED 1603909 C2orf73 chromosome 2 open reading frame 73 INTERACTS WITH lead diacetate (ortholog) 2 2 2 p16.2 54398902 54427568 + 54558006 54588714 + 54330868 54381947 + 6480464 12477932;14702039;18654987;24250222 129852 B5MBY8;B7ZM12;C9J598;E7ENW1;F8WD05;H7C1Z5;Q8N5S3 ABBA01075252;AC092839;AC108929;AK097617;AMYH02003843;BC031669;BC126244;BC126246;BC144191;BC144192;CH471053;NM_001100396;XM_005264132;XM_005264133;XM_005264134;XM_006711933;XM_006711934;XM_006711935;XM_006711936 AAH31669;AAI26245;AAI26247;AAI44192;AAI44193;BAC05122;EAX00149;EAX00150;EAX00151;NP_001093866;Q8N5S3;XP_005264189;XP_005264190;XP_005264191;XP_006711996;XP_006711997;XP_006711998;XP_006711999 Hs.732626 1680294;1700410 RH103826;RH92103 FLJ40298 OTTHUMP00000200608;OTTHUMP00000200611;OTTHUMP00000201054;OTTHUMP00000213115;hypothetical protein LOC129852;uncharacterized protein C2orf73 protein-coding ENSG00000177994 HGNC:26861 13446 VALIDATED 1604331 C2orf83 chromosome 2 open reading frame 83 INVOLVED IN transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one (ortholog); lead diacetate (ortholog) 2 2 2 q36.3 222244328 222267570 - 228474806 228498036 - 227610090 227633320 - 6480464;8554872 11076863;11230166;12477932;14702039;15489336;16381901;22610502 56918 Q53S99 ABBA01050181;AC064853;AK055355;AL359944;AMYH02005922;BC131618;CH471063;CR749679;NM_001162483;NM_020161 AAI31619;AAX93156;CAB95774;CAH18470;CAL38026;CAL38151;EAW70873;EAW70874;NP_001155955;NP_064546;Q53S99 Hs.283092 OTTHUMP00000204101;OTTHUMP00000204102;folate transporter-like protein C2orf83 protein-coding ENSG00000042304 HGNC:25344 13208 VALIDATED 1601946 C2orf88 chromosome 2 open reading frame 88 ENCODES a protein that exhibits protein kinase A regulatory subunit binding (inferred); ASSOCIATED WITH Myostatin-related muscle hypertrophy (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH benzene; copper(2+) sulfate; cyclosporin A 2 2 2 q32.2 184597431 184663252 + 190744282 191068210 + 189879627 190203484 + 6480464;8554872 12477932;16189514;16303743;16344560;17207965;21988832;22344221;23115245;23455922;23996002 84281 C9JS57;H7BZ15;Q9BSF0 ABBA01062383;AC008122;AC010679;AC019178;AC073120;AC096650;AK075168;AK313395;AMYH02005434;BC005083;BU567236;BX648070;CH471058;DA247977;DA389238;NM_001042519;NM_001042520;NM_001042521;NM_032321;XM_005246905;XM_006712795 AAH05083;AAX93233;ADQ32431;BAG36193;EAX10878;EAX10879;NP_001035984;NP_001035985;NP_001035986;NP_115697;Q9BSF0;XP_005246962;XP_006712858 Hs.389311 1686520;1686738;1721457;2114428;2137539;2183731 G59581;RH69372;RH93597;RH94194;SHGC-35899;WIAF-2135 MGC13057 OTTHUMP00000205557;OTTHUMP00000205558;OTTHUMP00000205559;OTTHUMP00000205560;OTTHUMP00000205561;OTTHUMP00000205562;UPF0733 protein C2orf88;Uncharacterized protein FLJ90687;hypothetical protein LOC84281;smAKAP;small A-kinase anchoring protein;small membrane A-kinase anchor protein;small membrane AKAP protein-coding ENSG00000187699 HGNC:28191 14436 615117 VALIDATED 1343619 C3CER1 chromosome 3 common eliminated region 1 10610706;9408748 23739 HGNC:1320 1347639 C3orf14 chromosome 3 open reading frame 14 INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; benzo[a]pyrene 3 3 3 p14.2 62322488 62336413 + 62304648 62321888 + 62318973 62336213 + 737633;6480464 12477932 10931946;15489334;17207965;20379614 57415 C9JY17;Q9HBI5 ABBA01024329;AC092502;AF236158;AK310431;AK313915;AMYH02006929;BC017772;BE047745;BU568674;CH471055;DA615061;DA783189;NM_001291941;NM_001291942;NM_001291943;NM_020685;XM_005265338;XM_005265339;XM_005265340 AAG09750;AAH17772;ADQ32108;BAG36637;EAW65400;EAW65401;EAW65402;NP_001278870;NP_001278871;NP_001278872;NP_065736;Q9HBI5;XP_005265395;XP_005265396;XP_005265397 Hs.47166;Hs.594911 1660293;1779134 RH45851;SGC38115 HT021 OTTHUMP00000213295;OTTHUMP00000213296;OTTHUMP00000213297;OTTHUMP00000213298;hypothetical protein LOC57415;uncharacterized protein C3orf14 protein-coding ENSG00000114405 HGNC:25024 12819 VALIDATED 5688543 C2orf91 chromosome 2 open reading frame 91 2 2 2 p21 42002011 42020470 - 42162508 42180943 - 41935368 41953803 - 400950 Q6ZV80 ABBA01075055;AC013480;AC104654;AK124893;AMYH02003664;NM_001242815 BAC85983;NP_001229744;Q6ZV80 Hs.738713 1758397 SHGC-148242 uncharacterized protein C2orf91;uncharacterized protein LOC400950 protein-coding ENSG00000205086 HGNC:42966 VALIDATED 1343802 C3orf18 chromosome 3 open reading frame 18 FOUND IN integral component of membrane (inferred); INTERACTS WITH amiodarone; copper(2+) sulfate; hydrogen peroxide 3 3 3 p21.3 50568268 50581264 - 50595456 50608458 - 50558025 50571027 - 737633;6480464 12477932 15489334;16344560;17207965;20205591 51161 C9IYC4;F8WCC4;Q6ZP18;Q9UK00 AA716515;AA908974;ABBA01024543;ABBA01024544;AC096920;AF188706;AK124438;AK130227;AK308074;AK309486;AK311093;AK313128;AL833938;AMYH02006773;BC034766;CH471055;DA504094;DA535127;DB027651;DB166816;NM_001171740;NM_001171741;NM_001171743;NM_016210;XM_006713187 AAF01050;AAH34766;ADQ32861;BAC85307;BAG35948;BAG54038;CAD38793;EAW65122;EAW65123;EAW65124;NP_001165211;NP_001165212;NP_001165214;NP_057294;Q9UK00;XP_006713250 Hs.517860 1735090;1852720;2130188;2139522;2143493 A003M37;D3S2773E;D3S2903E;G16541;RH15919 G20 OTTHUMP00000210812;OTTHUMP00000210813;OTTHUMP00000210815;OTTHUMP00000210817;OTTHUMP00000210818;hypothetical protein LOC51161;uncharacterized protein C3orf18 protein-coding ENSG00000088543 HGNC:24837 16654 VALIDATED 1353843 C3AR1 complement component 3a receptor 1 ENCODES a protein that exhibits G-protein coupled receptor activity; INVOLVED IN positive regulation of cytosolic calcium ion concentration; PARTICIPATES IN coagulation cascade pathway; complement system pathway; Staphylococcus aureus infection pathway; ASSOCIATED WITH Asthma; Rhinitis; Lung Diseases (ortholog); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH (S)-nicotine; 5-azacytidine; cytarabine 12 12 12 p13.31 9787991 9796026 - 8210919 8218955 - 8058323 8066359 - 1580863;5129690;5129559;5129512;5129702;5129564;5129560;5129561;5129686;5129688;5129681;6480464;6907045 15159277;15278436;15940127;16461429;17079327;17544263;20045013;20802484;21421909 10340761;10358194;10571060;10725738;11044372;11160252;11342658;11412308;12477932;12511407;12871936;15039137;15067069;15123239;15356170;15489334;16778800;17234193;17472841;17498719;18538384;18577758;19005416;19247692;19344414;20484595;21371235;21589858;21799898;22868393;22901903;23077507;23284683;24321396;8125298;8605247;8702752;8765043;8898085;9221749;9694514;9725198 719 A8K2H7;F5GZE6;Q16581 AB065870;ABBA01012236;AC006511;AK223388;AK290242;AK312458;AMYH02025987;AY268431;AY455929;BC020742;CH471116;NM_004054;U28488;U62027;Z73157 AAC50374;AAC50657;AAH20742;AAP23198;AAR13862;ABM82930;ABM86123;ABM87839;BAC06088;BAD97108;BAF82931;BAG35365;CAA97504;EAW88640;EAW88641;NP_004045;Q16581 Hs.591148 1795456;2132674;2139319;2184584 C3AR1_491;RH44757;STS-U28488;WI-18562 AZ3B;C3AR;C3a-R;HNFAG09 C3a anaphylatoxin chemotactic receptor;OTTHUMP00000239050;OTTHUMP00000239051;complement component 3 receptor 1 protein-coding ENSG00000171860 HGNC:1319 05581 605246 VALIDATED 1603560 C3orf22 chromosome 3 open reading frame 22 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (+)-catechin; aflatoxin B1; diazinon 3 3 3 q21.3 124693189 124702399 - 126245842 126277808 - 126526999 126558965 - 6480464;8554872 12477932;14702039;15489334 152065 B3KUS9;Q8N5N4 ABBA01016386;AC024558;AK097841;AMYH02007590;BC032025;CH471052;HC007152;NM_152533;XM_005247139;XM_005247140 AAH32025;BAG53541;CBH19381;EAW79358;NP_689746;Q8N5N4;XP_005247196;XP_005247197 Hs.178210 1683465 RH92341 MGC34728 OTTHUMP00000222592;hypothetical protein LOC152065;uncharacterized protein C3orf22 protein-coding ENSG00000180697 HGNC:28534 14585 PREDICTED 1343380 C3orf20 chromosome 3 open reading frame 20 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH atrazine; benzo[a]pyrene; hydrogen peroxide 3 3 3 p25.1 14654855 14752777 + 14716606 14814543 + 14675099 14773036 + 737633;6480464;8554872 12477932 11076863;11230166;11256614;15489334;15489336;16344560;16381901;20379614;21832049 84077 Q8ND61 ABBA01025153;ABBA01025154;AC090957;AK131481;AL136781;AL834386;AMYH02006322;AMYH02006323;BC030599;BC038406;BG718869;CH471055;DB064418;NM_001184957;NM_001184958;NM_032137;XM_006713341;XM_006713342;XM_006713343;XM_006713344 AAH30599;AAH38406;CAB66715;CAD39049;CAL37708;CAL37860;CAL38115;EAW64204;EAW64205;EAW64206;NP_001171886;NP_001171887;NP_115513;Q8ND61;XP_006713404;XP_006713405;XP_006713406;XP_006713407 Hs.661452 1775494;1956446;2164263;2185317 REN49088;RH16620;SHGC-33603;SHGC-76719 DKFZP434N1817 OTTHUMP00000208214;OTTHUMP00000208215;OTTHUMP00000208216;hypothetical protein LOC84077;uncharacterized protein C3orf20 protein-coding ENSG00000131379 HGNC:25320 12821 VALIDATED 735504 C3 complement component 3 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. People with C3 deficiency are susceptible to bacterial infection. [provided by RefSeq, Feb 2009] 19 19 19 p13.3-p13.2 6619402 6662926 - 6677846 6720662 - 6677835 6720651 - 1600604;1580863;1580273;2314030;2314031;5129507;5129562;5130153;5130170;1600605;5130169;5129517;5129694;5129513;5129519;5129524;5129564;5129550;1582136;5129502;5129514;5129516;5129537;5129681;5129536;5129538;5129563;5129508;1600478;5129523;5129535;5129539;5129540;1599509;5129484;5129520;5129492;5129504;5129512;5129500;4142862;5129509;5129542;5129543;5130163;5129525;5129501;5129505;5129554;6480464;6907045;7175513;7175514;7175516;7175543;7175544;7183082;7183083;7175542;7240710;7411735;7401280;7401252;7401271;7401277;7421527;7401262;7401263;7411715;7411736;7421524;7411625;7411689;7411688;7421518;7401276;7401253;7411624;7401269;7401272;7401268;7364995;7401274;7411622;7411628;4889484;7401273;7401249;7401259;7364947;7401275;7401278;7401279;7401250;7401265;7401257;8554872;8699517 10729746;10886251;10955930;11037838;11287758;11509581;11532096;11560858;11591733;11950907;12096683;12121667;12196286;12235218;14561876;14577867;15278436;15378355;15972516;16014897;16143328;16186675;16355111;16367929;16488421;16677633;16751365;16947020;16996480;17114852;17146472;17169032;17345707;17517971;17675493;17956621;17960140;17962462;17975205;17981193;18052971;18069416;18256172;18566738;18648551;19050293;19200691;19258923;19472039;19593977;19691975;19899988;20051658;20109314;20157618;20395963;20402389;20405;20510197;20589464;20802484;21139973;21408070;21421909;21467172;21502587;21571681;21678475;21888025;22004711;22103620;2212005;22174912;22300950;22320401;22863782;23118029;23549917;23588254;23685261;23747511;2783924;2784515;2803327;3253105;3339873;3826891;3875643;3923750;6342123;6610667;8746955 10078261;10079271;10085065;10358196;10382758;10432298;10608878;10610782;10622723;10882776;10946275;11058592;11073102;11086104;11342658;11367533;11387479;11513971;11684127;11705926;11773063;11785295;11803045;11813855;11854358;11884542;11896391;11939578;11979403;12006395;12165538;1238393;12477932;12511407;12540846;12645945;12679444;12754519;12761187;12816955;12878586;12893820;12942785;12967641;1323007;1350678;1401896;14527961;14563826;14639503;14662858;14702039;14760718;15033778;15090635;15187133;15199963;15241561;1531292;15342556;15381670;15383607;15489226;15590640;15648851;15713467;15713468;15749882;1577777;15810889;15833747;15872081;16148107;16148115;16177781;16199891;162484;16263699;16301317;16335952;16339538;16449793;16452172;16502470;16516157;16530040;16570073;16627066;16670774;16809564;16823297;16889542;16893076;1703437;17051150;17051152;17051160;17060630;17172439;1717583;17322907;17372315;17482181;17498719;17502296;17520688;17634448;17684013;17703412;17762737;17767156;17984207;18039528;18039777;18054386;18061265;18174230;18206145;18247123;18253759;1830068;18325906;18356838;18383369;18434316;18456336;18562232;18562603;18572187;18585783;18596911;1861080;18631248;18671285;18682851;18694577;18702682;18755462;18760301;18796626;18802120;18805911;18854167;18936151;18974840;19005416;19015224;19017934;19022911;19028820;19028829;19048105;19112495;19117936;19131662;19164292;19168221;19179465;19196712;19202148;19225544;19234341;19246358;19247692;19259132;19263529;19265162;19302245;19328844;19336475;19344414;19387462;19399715;19407382;19423540;19454698;19457998;19503104;19505474;19549636;19559392;19590060;19661236;19665237;19670317;19680263;19694644;19703145;19767107;1976733;19773279;19797206;19823576;19825847;19828715;19834535;19843088;19850835;19861685;19878567;19913121;19913840;19939777;19948975;20089077;20091675;20104494;20105190;20105310;20139276;20139773;20173020;20188594;20237496;20238042;20301541;20378178;20379614;20381870;20385819;20385826;20406964;20438785;20453728;20498262;20503287;20513133;20523265;20576771;20603037;20628086;20628624;20639865;20644161;20664795;20706769;20807366;20817881;20837143;20841369;20852386;20861866;20862287;20888482;20926033;20926148;20951140;21055811;21085669;21163532;21173647;21205667;21270401;21308746;21402993;21404895;21414106;21415311;21435440;21462136;21464960;21501302;21527715;21555552;21566112;21642543;21658310;21664558;21665990;21706294;21733505;21788512;21801245;21813769;21816153;21953030;21966368;21988832;22007489;22089112;22132894;22138144;22145905;22153860;22171262;22176838;22194611;22228414;22234447;22246034;22250080;22253322;22258234;22264230;22273503;22324951;22361228;22390383;22393059;22415003;22456601;22518841;22542119;22553783;22565852;22635230;22669319;22673887;22705344;22718507;22792353;22851413;22878256;22909298;22930722;22996269;23028341;23031360;23056509;23068452;23071281;23098807;23134230;23206327;23209669;23233260;23235303;23235567;23285141;23337555;23356914;23365660;23385359;23390291;23427180;23455636;23537682;23619360;23628799;23639844;23661701;23719603;23750785;23764154;23833239;2387584;23878142;23892798;23956345;23977229;23982842;24067430;24097068;24125410;24178974;24187101;24200836;24239583;24287422;24356554;24363825;24367091;24453474;24489446;24516199;24557084;24612979;2473125;24850720;2579379;2584723;279011;2824652;3052276;3260670;3279119;3421908;3488995;3546307;3871945;4062888;4097977;6175959;6203109;6912277;695691;7512600;7535292;7539791;7590866;7642209;7893437;7911492;7961791;8406564;8416818;8471312;8630395;8648130;8702752;8845016;8943712;9059512;9164946;9291131;9544576;9555951;9596584;9605165;9719152;9988761 718 M0QXZ3;M0QYC8;M0R0Q9;M0R1Q1;P01024;V9HWA9 ABBA01051470;ABBA01051471;ABBA01051472;ABBA01051473;ABBA01051474;AC008760;AI758500;AK094728;AK304071;AMYH02035360;AMYH02035361;AMYH02035362;AY513239;BC022897;BC063852;BC150179;BC150200;BC150299;BP201387;BP349355;CH471139;CQ985770;EU794602;J04763;K02765;KC493376;KC493377;M55658;M63423;NG_009557;NM_000064 AAA35722;AAA85332;AAI50180;AAI50201;AAR89906;ACJ13656;BAG64978;CAI46844;EAW69070;EAW69071;NP_000055;P01024 Hs.529053 1649693;1679283;1741127;2136247;2138189 GDB:177904;RH11718;RH45403;RH80210;SGC31874 AHUS5;ARMD9;ASP;C3a;C3b;CPAMD1;HEL-S-62p C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1;C3a anaphylatoxin;OTTHUMP00000197086;acylation-stimulating protein cleavage product;complement C3;complement component C3;complement component C3a;complement component C3b;epididymis secretory sperm binding protein Li 62p;prepro-C3 APPROVED protein-coding ENSG00000125730 HGNC:1318 00400 120700;611378;612925;613779 REVIEWED 1606145 C3orf30 chromosome 3 open reading frame 30 INTERACTS WITH (+)-pilocarpine (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); choline (ortholog) 3 3 3 q13.32 117273489 117278794 + 118864997 118879674 + 119146150 119151455 + 6480464 12477932;14702039;19821082 152405 H7C4V1;H7C564;H7C5E0;Q96M34;S4R404 ABBA01061587;AC083800;AK057421;AMYH02007495;BC130475;BC144197;CH471052;DW009752;NM_152539 AAI30476;AAI44198;BAB71478;EAW79578;NP_689752;Q96M34 Hs.730099 FLJ32859;TSCPA OTTHUMP00000214992;OTTHUMP00000214993;OTTHUMP00000214995;OTTHUMP00000214997;hypothetical protein LOC152405;uncharacterized protein C3orf30 protein-coding ENSG00000163424 HGNC:26553 08146 VALIDATED 1603406 C3orf27 chromosome 3 open reading frame 27 3 3 3 q21 126719455 126723541 - 128290843 128294929 - 128572000 128576086 - 15067727;21738480;9307271 23434 O15544 ABBA01020902;AC080005;AF008191;AF008192;AMYH02007622;CH471052;LN607989;NM_007354;NR_125802 AAB65247;AAB65248;AAI40212;AAI46514;EAW79310;NP_031380;O15544 Hs.194283 2219100 GR6__6661 GR6 OTTHUMP00000216237;putative GR6 protein ncrna HGNC:17099 13607 VALIDATED 1352471 C3orf17 chromosome 3 open reading frame 17 INVOLVED IN negative regulation of neuron differentiation (inferred); positive regulation of Notch signaling pathway (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred); INTERACTS WITH methotrexate; trichostatin A; valproic acid 3 3 3 q13.2 111129629 111146889 - 112721291 112738555 - 113002444 113019851 - 737633;6480464 12477932 14702039;15489334;16565220;19615732;19850743;20195357;21890473;21906983;23000965;23383273;24778252 25871 C9J9E3;E9PFF8;F2Z3E4;F8WBQ8;F8WC60;F8WDL7;Q6NW34 ABBA01061657;AC074044;AK024325;AK092546;AK293218;AK295165;AK295954;AK300811;AK301161;AK304022;AK304083;AL117573;AL537045;AMYH02007442;BC014673;BC056663;BC067743;BM152568;CH471052;CR749341;NM_015412;NR_027794;NR_027796;XM_005247273;XM_005247276;XM_005247278;XR_241481;XR_241482 AAH67743;ACE86517;ACE86712;ACE87196;ACE87397;BAB14885;BAG56757;BAG58177;BAG58735;BAG62467;BAG62751;BAG64937;BAG64990;CAB55998;CAH18194;EAW79648;EAW79649;EAW79650;EAW79651;NP_056227;Q6NW34;XP_005247330;XP_005247333;XP_005247335 Hs.591288 1644847;1660120;1665440;1678227;1685017;1760177;1764659;1770445;2133559;2141812;2171570;2179022 Cda1ac05;RH44330;RH46087;RH65022;RH92227;SHGC-132456;SHGC-148248;SHGC-32187;SHGC-33071;SHGC-77207;SHGC-77208;WI-13462 DKFZp434F2021;NET17 OTTHUMP00000214707;OTTHUMP00000214708;hypothetical protein LOC25871;uncharacterized protein C3orf17 protein-coding ENSG00000163608 HGNC:24496 08524 VALIDATED 1605242 C3orf33 chromosome 3 open reading frame 33 ENCODES a protein that exhibits hydrolase activity, acting on ester bonds (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of ERK1 and ERK2 cascade; regulation of sequence-specific DNA binding transcription factor activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; amiodarone 3 3 3 q25.31 153901052 153944745 - 155480401 155524076 - 155762612 155806287 - 6480464;8554872 12477932;14702039;15489334;18487146;19322201;20515784;20680465;21832049 285315 F8WCI5;F8WDI1;H7C4I0;Q6P1S2 ABBA01058854;AC104472;AF115515;AK055701;AK289890;AL832165;AMYH02007960;AMYH02007961;AMYH02007962;BC042198;BC064898;CH471052;NM_173657;XM_005247378;XM_005247379;XM_006713601 AAH42198;AAH64898;AAO06952;BAB70989;BAF82579;EAW78745;EAW78746;NP_775928;Q6P1S2;XP_005247435;XP_005247436;XP_006713664 Hs.350846 5014563;5015961;5022200;5022322;5037552 D11S2560;D15S1477;D8S2279;L17676;L18426 AC3-33;FLJ31139 AP-1 activity suppressor;OTTHUMP00000212995;hypothetical protein LOC285315;uncharacterized protein C3orf33 protein-coding ENSG00000174928 HGNC:26434 08095 PROVISIONAL 1602632 C3orf38 chromosome 3 open reading frame 38 INVOLVED IN apoptotic process (inferred); INTERACTS WITH formaldehyde; N-acetyl-1,4-benzoquinone imine; quercetin 3 3 3 p11.1 88952867 88961107 + 88198875 88207115 + 88149724 88157965 + 6480464 12477932;15489334;21139048;21177773;21906983;21988832;22505724 285237 D3DU39;E9PFZ1;Q5JPI3 ABBA01004634;AC128650;AK297719;AK313547;AL832398;AMYH02007220;BC016013;BC024188;CH471110;NM_173824;XM_005264745 AAH24188;ADZ15889;BAG36323;BAG60073;CAI46184;EAW68858;EAW68859;EAW68860;NP_776185;Q5JPI3;XP_005264802 Hs.476944;Hs.518099 1690920;5015861;5037552;7185938 D10S16;D8S2279;RH92935 FLJ54270;MGC26717 OTTHUMP00000208594;OTTHUMP00000214138;hypothetical protein LOC285237;uncharacterized protein C3orf38 protein-coding ENSG00000179021 HGNC:28384 14509 VALIDATED 1602072 C3orf49 chromosome 3 open reading frame 49 3 3 3 p14.1 63821801 63851073 + 63805041 63834312 + 63819365 63848636 + 12477932;15203218;15489334;24023788 132200 Q96BT1 ABBA01024315;AC104162;AMYH02006949;BC015210;CD636567;NR_026866 Q96BT1 Hs.506386 1653081 SHGC-77029 MGC17310 ncrna ENSG00000163632 HGNC:25190 VALIDATED 1602414 C3orf53 chromosome 3 open reading frame 53 p24.1 14702039 285322 Q8N290 AC109586;AK090970;XM_928239 BAC03560;Q8N290;XP_933332 Hs.376725 FLJ33651 protein-coding HGNC:26589 08162 1602212 C3orf36 chromosome 3 open reading frame 36 INTERACTS WITH methotrexate 3 3 3 q22.1 132072844 132074511 - 133646989 133648656 - 133928145 133929812 - 6480464 12477932;14702039;15489334;21832049 80111 Q3SXR2 ABBA01059163;AC080128;AK025826;AK225383;AMYH02007713;BC051274;BC064502;BC082257;BC104161;BC104162;CH471052;NM_025041 AAI04162;AAI04163;BAB15249;EAW79157;NP_079317;Q3SXR2 Hs.287691 5493499 UniSTS:486865 FLJ22173;MGC125760;MGC125761 hypothetical protein LOC80111;uncharacterized protein C3orf36 protein-coding ENSG00000221972 HGNC:26170 07981 VALIDATED 1603352 C3orf58 chromosome 3 open reading frame 58 INVOLVED IN cardiac muscle cell proliferation; regulation of phosphatidylinositol 3-kinase signaling; FOUND IN COPI vesicle coat; extracellular space; Golgi membrane; INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; paracetamol 3 3 3 q24 142113447 142133972 + 143690640 143711210 + 143971798 143992368 + 6480464 12477932;14702039;15489334;16344560;17207965;18651652;21264219;21283809;23784961;24269490;8889548 205428 B3KTD4;C9JY09;E7ET39;Q8NDZ4 ABBA01059010;ABBA01059011;AC117379;AK025119;AK095063;AK095161;AK095400;AK294020;AK315082;AL832839;AMYH02007831;BC037293;BM968874;CH471052;DA760601;DB067725;DC310234;DC310421;NM_001134470;NM_173552 AAH37293;ADQ31743;BAG37549;BAG52997;BAG53046;BAH11649;EAW78946;EAW78947;EAW78948;NP_001127942;NP_775823;Q8NDZ4 Hs.288954 DIA1;GoPro49;HASF;MGC33365 Golgi Protein of 49 kDa;Golgi protein GoPro49;OTTHUMP00000215115;OTTHUMP00000215116;UPF0672 protein C3orf58;deleted in autism 1;deleted in autism protein 1;hypoxia and AKT-induced stem cell factor;hypoxia and Akt induced stem cell factor protein-coding ENSG00000181744 HGNC:28490 14559 612200 VALIDATED 1605538 C3orf35 chromosome 3 open reading frame 35 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 3 3 3 p22.2 37374537 37410558 + 37426477 37476988 + 37384986 37435497 + 6480464;8554872 12477932;12543795;12771950;15208675;16187228;16344560 339883 Q8IVJ6;Q8IVJ8 ABBA01024844;AC092055;AC136290;AJ493599;AJ493600;AJ493601;AJ493602;AJ493603;AJ493604;AJ493605;AMYH02006559;BC100859;BC100860;BC100861;BC100862;BC112433;BC113895;BC132691;BC133024;BC144376;BC144377;CH471055;DB349441;KF457626;LN607971;LN607972;LN607973;LN607974;LN607975;LN607976;LN607977;NM_178339;NM_178342;XM_006713125 AAI32692;AAI33025;AAI44377;AAI44378;ADR83466;CAD42702;CAD42703;CAD42704;CAD42705;CAD42706;CAD42707;CAD42708;EAW64498;EAW64499;EAW64500;NP_848029;NP_848032;Q8IVJ8;XP_006713188 Hs.475945 1337145;1646653;1658936;1665131;2124768;2135949;2166967;5022651 A003B17;D11S2921;D3S2885E;D3S3623;D3S4247;NIB1520;SHGC-76828;WI-18659 APRG1 AP20 region protein 1;AP20 region protein1;APRG1 tumor suppressor candidate;OTTHUMP00000208938;OTTHUMP00000208939;OTTHUMP00000208941;OTTHUMP00000208942 protein-coding HGNC:24082 16502 611429 VALIDATED 1602415 C3orf56 chromosome 3 open reading frame 56 3 3 3 q21.3 125336528 125341579 + 126911974 126917028 + 127193131 127198185 + 12477932;14702039;24025145;24529757 285311 Q8N813 ABBA01020875;AC112482;AK097460;AMYH02007596;BC137154;BC137155;HC044771;NM_001007534 AAI37155;AAI37156;BAC05062;CBH30715;NP_001007535;Q8N813 Hs.591284 FLJ40141 putative uncharacterized protein C3orf56 protein-coding ENSG00000214324 HGNC:32481 16949 VALIDATED 1606226 C3orf52 chromosome 3 open reading frame 52 FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cisplatin 3 3 3 q13.2 110204266 110236149 + 111805175 111837073 + 112086335 112118226 + 6480464 12477932;14702039;15489334;15737651;16344560;19322201 79669 H7C5J7;Q5BVD1 AA215562;ABBA01061667;ABBA01061668;AC024887;AC128688;AK026839;AK298076;AK303588;AMYH02007437;AY830714;BC017064;BX104180;CH471052;DB159226;NM_001171747;NM_024616 AAH17064;AAX21411;ADZ16001;BAB15569;BAG60364;BAG64604;EAW79681;NP_001165218;NP_078892;Q5BVD1 Hs.434247 1658836;1675618 RH93661;SHGC-59894 FLJ23186;TTMP OTTHUMP00000214424;OTTHUMP00000214425;TPA induced trans-membrane protein;TPA-induced transmembrane protein;novel endoplasmic reticulum transmembrane protein protein-coding ENSG00000114529 HGNC:26255 08018 611956 VALIDATED 1605238 C3orf70 chromosome 3 open reading frame 70 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; silicon dioxide 3 3 3 q27.2 183242851 183317793 - 184795838 184870802 - 185078050 185153014 - 6480464;8554872 12477932;21042317 285382 A6NLC5 ABBA01058429;AC007934;AC025573;AMYH02008318;AMYH02008319;AMYH02008320;BC137178;BC137179;BC150565;CH471052;NM_001025266 A6NLC5;AAI37179;AAI37180;AAI50566;EAW78232;NP_001020437 Hs.380048 1650295;1715631;5020988;5037552 D22S958;D8S2279;RH119259;SHGC-77613 OTTHUMP00000210414;UPF0524 protein C3orf70;hypothetical protein LOC285382 protein-coding ENSG00000187068 HGNC:33731 18774 PREDICTED 1602042 C3orf62 chromosome 3 open reading frame 62 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 5-aza-2'-deoxycytidine; aflatoxin B1 3 3 3 p21.31 49269717 49277952 - 49306030 49314864 - 49268597 49277075 - 6480464;8554872 12477932;14702039;15489334;17207965;21832049;24722188 375341 C9JW57;H7BZX3;Q6ZUJ4 ABBA01024601;AC121247;AK056215;AK096799;AK125642;AMYH02006748;BC023586;BC032616;BC053629;BC061697;CH471055;NM_198562 AAH23586;AAH53629;AAH61697;ADQ32598;BAC86231;EAW64967;NP_940964;Q6ZUJ4 Hs.403828 1672246;1857714;2108983;2116986;2119674;2151369;2168751;2170375;5014019;5015961 D15S1477;D5S2354;RH18550;RH41918;RH45172;SGC32571;SHGC-31529;SHGC-57032;STS-U20657;USP4_8707 FLJ43654;MGC23381;MGC61663;MGC62079 OTTHUMP00000210683;OTTHUMP00000210721;hypothetical protein LOC375341;uncharacterized protein C3orf62 protein-coding HGNC:24771 13475 VALIDATED 2301260 C3orf73 chromosome 3 open reading frame 73 q21.3 15489334;16641997 729581 AC112484;XM_001130148;XM_001130701;XM_001714569 A8MYE2;XP_001130148;XP_001130701;XP_001714621 Hs.134807 protein-coding HGNC:34529 8552149 C3orf67-AS1 C3orf67 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 3 3 58810191 59004819 + 58824465 59019093 + 8554872 14702039 101929238 ABBA01024373;ABBA01024374;ABBA01024375;AC104300;AC104303;AK090895;AMYH02006892;AMYH02006893;AMYH02006894;HG495712;HG495715;NR_110820;XR_245232;XR_249366;XR_251370 Hs.683953 ncrna ENSG00000242428 HGNC:41063 VALIDATED 1605264 C3orf67 chromosome 3 open reading frame 67 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,4-dichloroaniline; diuron; trichostatin A 3 3 3 p14.2 58741188 59049142 - 58720199 59035804 - 58742006 59050050 - 6480464;8554872 12477932;20379614;24250222 200844 C9IYJ1;C9J3M8;C9J8V2;F5H9F7;F8WF72;H0Y8H3;H7C4Q4;H7C4R0;H7C586;H7C5H9;Q6ZVT6 ABBA01024373;ABBA01024374;ABBA01024375;AC104300;AC104303;AC119424;AK124111;AK124920;AK128200;AK296111;AMYH02006892;AMYH02006893;AMYH02006894;BC050317;BC075863;BC132815;BC140002;BC151142;CH471055;KF510847;NM_198463;XM_005264928;XM_005264929;XM_005264931;XM_006713013;XR_427258 AAH50317;AAI32816;AAI51143;BAC85775;BAC85994;BAG58860;EAW65383;EAW65384;EAW65385;EAW65386;EAW65387;EAW65388;EAW65389;EAW65390;EAW65391;NP_940865;Q6ZVT6;XP_005264985;XP_005264986;XP_005264988;XP_006713076 Hs.368434 1338562;1646986;1651097;1667863;1679289;1695798;1697350;1715241;1726589;1731293;5014051 D3S1450;D3S1766;D3S3040;D8S2278;G62527;RH102173;RH119871;RH93562;SHGC-14756;SHGC-31910;SHGC-82555 FLJ42117;FLJ42930;MGC48416 OTTHUMP00000214186;OTTHUMP00000214328;hypothetical protein LOC200844;uncharacterized protein C3orf67 protein-coding ENSG00000163689 HGNC:24763 13458 VALIDATED 5486719 C3orf80 chromosome 3 open reading frame 80 FOUND IN integral component of membrane (inferred) 3 3 3 q25.33 158364792 158367369 + 159943423 159946000 + 160225636 160228213 + 11181995;12477932 401097 F5H4A9 ABBA01058798;ABBA01058799;AC112641;AMYH02008017;BC031660;CH471052;NM_001168214 AAH31660;EAW78649;F5H4A9;NP_001161686 Hs.729755 hypothetical protein LOC401097;uncharacterized membrane protein C3orf80 protein-coding ENSG00000180044 HGNC:40048 VALIDATED 1603837 C3P1 complement component 3 precursor pseudogene ENCODES a protein that exhibits endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH paracetamol 19 19 19 p13.2 10047526 10080306 + 10152032 10184814 + 10041356 10074138 + 6480464 11752456;12477932;15060002;16712791 388503 Q6ZMU1 ABBA01029950;ABBA01029951;ABBA01029952;AC020931;AK131489;AMYH02035482;AMYH02035483;AMYH02035484;AW827199;CB162385;CH471106;DT932550;NR_027300 BAD18634;EAW84063;EAW84064;EAW84065;Q6ZMU1 Hs.655363 1716345;2154875 RH121350;SGC33001 CPLP pseudo ENSG00000167798 HGNC:34414 18382 VALIDATED 3234336 C3orf79 chromosome 3 open reading frame 79 3 3 3 q25.2 151619934 151638137 + 153202284 153220486 + 153484495 153502697 + 152118 P0CE67 ABBA01058876;AC078788;AF086445;AMYH02007929;AMYH02007930;CH471052;LN607990;NM_001101337 EAW78768;NP_001094807;P0CE67 Hs.58586 OTTHUMP00000216027;putative uncharacterized protein C3orf79 protein-coding ENSG00000237787 HGNC:37259 PREDICTED 7207322 C4B_2 complement component 4B (Chido blood group), copy 2 This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. This GeneID and its associated RefSeq record represent a second copy of C4B found on ALT_REF_LOCI_7. [provided by RefSeq, Jul 2011] 6 6 3282544 3303168 + 3283246 3303870 + 8554872 10207042;12224044;12226794;17503323;18032375;19505723;20795316;2431902;2883116;6546707 100293534 P0C0L5 ABBA01138727;ABBA01175231;BX679671;NM_001242823 NP_001229752 Hs.720022 1648514;1712246;1745799;1769516;2121053;2143466;5127416 G54031;GDB:642029;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623 complement C4-B-like protein-coding HGNC:42398 REVIEWED 7254257 C3orf84 chromosome 3 open reading frame 84 ASSOCIATED WITH Melanoma (inferred) 3 3 3 p21.31 49172338 49184925 - 49215069 49229291 - 49177636 49191858 - 8554872 646498 H3BNL1;H3BQU4 ABBA01024607;AC135506;AMYH02006745;NM_001080528 H3BNL1;NP_001073997 Hs.143880 uncharacterized protein C3orf84;uncharacterized protein LOC646498 protein-coding ENSG00000236980 HGNC:44666 VALIDATED 1342759 C4BPAP1 complement component 4 binding protein, alpha pseudogene 1 1 1 1 q32.2 180591424 180609988 + 207338840 207357406 + 207165495 207184061 + 2352933;8406448 727859 ABBA01048247;AL445493;AMYH02002559;NG_006475 1750629 SHGC-111938 C4BPAL1 APPROVED pseudo HGNC:1326 INFERRED 736103 C4BPA complement component 4 binding protein, alpha This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008] 1 1 1 q32 180529170 180570903 + 207277583 207318317 + 207104241 207144972 + 1580863;5129484;6480464;6907045 20510197 10383431;10744423;11441101;11705989;12100475;12135356;12477932;12893820;14607961;14718574;15179322;15188402;1534488;15489334;16330538;16335952;16819837;17225862;17548110;17579075;18029348;1833851;18406463;18424762;18556068;18715646;18842294;19076829;19155499;19344414;19417080;19423540;19494311;1989602;20022381;20059470;20212171;20237496;20406964;20438785;20532227;21262398;21659506;21915248;21988832;22333221;2237642;22732096;22925928;23274142;23390292;23508668;2352933;23750785;24760758;24779215;2590215;3017751;3378624;3840370;4033666;6222381;7592941;7772049;7806286;8406448;9089100;9628846 722 A6PVY5;F2Z2V7;P04003 ABBA01048247;AC247050;AK303793;AK303798;AK313164;AL445493;AMYH02002559;BC022312;BQ019292;CH471100;M31452;M62448;M62486;NG_029579;NM_000715;X02865;X04284;X04296;X07853;XM_005273251;XM_005273252 AAA36506;AAA36507;AAH22312;ABM82947;ABM86139;BAG35982;BAG64750;BAG64753;CAA26617;CAA27839;CAA30701;CAB51244;EAW93500;EAW93501;EAW93502;EAW93503;NP_000706;P04003;XP_005273308;XP_005273309 Hs.1012 1644105;1692290;1760241;2113122;2167273;2187286;2217088 AL034030;C4BPA_2902;D1S3036;D1S3704;SHGC-132542;SHGC-35696;SHGC-76272 C4BP;PRP C4b binding protein, alpha chain;C4b-binding protein alpha chain;OTTHUMP00000034376;complement component 4 binding protein, alpha chain;complement component 4-binding protein, alpha;proline-rich protein APPROVED protein-coding ENSG00000123838 HGNC:1325 00403 120830 REVIEWED 1605129 C4B complement component 4B (Chido blood group) This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33549596 33570219 + 31982572 32003195 + 32014795 32035418 + 5688253;5688257;5688260;5688264;5688263;5688259;5688256;5688255;6480464;6907045;8554872 17503323;19150565;20452682;21445879;21809649;21913394;21943165;22076784 10072631;10207042;10383431;10528211;10851272;1088823;10946278;11062289;11168010;11341920;11367523;11803045;12224044;12226794;12477932;12480675;12754519;12878586;12893820;12907438;14574404;14760718;14989716;15033778;15096498;15203218;15456488;15665772;15787745;15816885;15998580;16098595;16344560;16386506;16504674;16740002;16889542;16893076;16908004;16980082;1699796;17015733;1717583;17202363;17212707;17257223;17318071;17425651;17728371;17915330;17921792;17971360;17984207;18032375;18065805;18085389;18091514;18179706;18315707;18347532;18360261;18365397;18645500;18682851;18927458;18929826;19062096;19135723;19137635;19167759;19302245;19505723;1988494;19900552;19913121;20022265;20139276;20506482;20580617;20628086;20795316;21085669;21345967;21620080;21642539;21857912;21967755;22132894;22151770;22169613;22387014;22393059;22737222;22785613;22841245;22878256;2295627;23006730;23026593;23199209;23274969;23447068;23535732;23698598;23715124;23911397;23918728;2395880;23979690;24030736;24166212;2431902;2883116;3542363;3696167;3840370;3944109;6167582;6546707;6559257;6832377;6881182;6950384;6978711;7391573;7525470;7545960;7590866;7642209;7893437;7911492;8132574;8575831;8630395;8660986;8889548;9759862 721 B4DDH0;F5GXS0;P0C0L4;P0C0L5 ABBA01138727;AF019413;AF092085;AK304564;AL049547;AL645922;AL662849;AL929593;AMYH02013460;AMYH02013461;AMYH02013462;AMYH02013463;AMYH02013464;AMYH02013465;AY343497;AY379860;AY379861;AY379862;AY379863;AY379865;AY379867;AY379868;AY379869;AY379870;AY379871;AY379872;AY379873;AY379874;AY379875;AY379876;AY379877;AY379878;AY379879;AY379884;AY379886;AY379901;AY379903;AY379905;AY379907;AY379909;AY379910;AY379911;AY379924;AY379925;AY379926;AY379927;AY379959;BM672834;BQ960796;BX679671;CD624022;CR753845;DA395398;DA918359;K02404;NG_011639;NM_001002029;U24578;U77886;U77887 AAA59651;AAA99717;AAB67980;AAC98380;AAI72377;AAK49810;AAK49811;AAQ99144;AAR89087;AAR89088;AAR89089;AAR89090;AAR89092;AAR89094;AAR89095;AAR89096;AAR89097;AAR89098;AAR89099;AAR89100;AAR89101;AAR89102;AAR89103;AAR89104;AAR89105;AAR89106;AAR89111;AAR89113;AAR89128;AAR89129;AAR89131;AAR89133;AAR89135;AAR89137;AAR89138;AAR89151;AAR89152;AAR89153;AAR89154;AAR89163;BAG65356;CAB89302;NP_001002029;P0C0L5 Hs.534847;Hs.720022 1648514;1678425;1712246;1745799;1769516;1797462;2106223;2106659;2121053;2137309;2143466;2157927;5127416 CYP21A2_2362;G29213;G54031;GDB:642029;N3_3_2;RH11436;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623;STK19__5340;WI-7720 C4B1;C4B12;C4B2;C4B3;C4B5;C4BD;C4B_2;C4F;CH;CO4;CPAMD3;FLJ60561;MGC164979 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3;Chido form of C4;OTTHUMP00000029269;basic C4;basic complement C4;complement C4-B;complement C4B1a APPROVED protein-coding ENSG00000224389 HGNC:1324 00402;18631 120820;614379 REVIEWED 1345971 C4BPAP2 complement component 4 binding protein, alpha pseudogene 2 1 1 1 q32 180651731 180655135 + 207399143 207402547 + 207225798 207229202 + 7806286 724 ABBA01048247;AL596218;AMYH02002559;NG_002761;X81360;X81361;X81362 C4BPAL2 APPROVED pseudo HGNC:1327 INFERRED 1350864 C4A complement component 4A (Rodgers blood group) This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 6 6 6 p21.3 33549596 33570218 + 31949834 31970457 + 31982057 32002680 + 5688253;5688260;5688264;5688259;5688262;5688255;6480464;6907045;7240710;8699517 16879240;17503323;19150565;21809649;21913394;21943165 10072631;10092831;10529130;11168010;11367523;11773063;11803045;12133986;12224044;12226794;12367531;12477932;12480675;12754519;12878586;12894949;14574404;14760718;15039137;15166556;15174051;15199963;1573268;15787745;15794202;15998580;16098595;162484;16335952;16439442;16893076;16908004;1699796;17212707;17257223;17728371;17921792;17971360;18054386;18058064;18069935;18091514;18360261;18636124;19028829;19035512;19062096;19135723;19137635;19167759;19302245;19665237;1988494;19913121;19923011;20139276;20346360;20409594;20498262;20506482;20628086;20649895;20795316;20936779;21085669;21164027;21345967;21677994;21801245;21857912;21904924;22052466;22151770;22297669;22387014;22406254;22616691;22737222;22785613;22837109;22886582;22949645;23028341;23031360;2304899;23335107;23530559;23535732;23592783;23708385;23715124;23750785;23911397;23918728;2395880;2431902;2612324;2883116;3264881;3542363;3696167;3838531;3944109;6019133;6167582;6316164;6546707;6559257;6572000;6577433;6832377;6881182;6950384;6978711;7391573;7518568;7545960;8012361;8132574;8422437;8473511;8589688;8660986;9725198 720 B4DDH0;P0C0L4 AB209989;ABBA01038101;AI065121;AK293191;AK293364;AL645922;AL844853;AL929593;AMYH02013456;AMYH02013457;AMYH02013458;AMYH02013459;AMYH02013460;AY224378;AY379864;AY379866;AY379880;AY379881;AY379882;AY379883;AY379885;AY379887;AY379888;AY379889;AY379890;AY379891;AY379892;AY379893;AY379894;AY379895;AY379896;AY379897;AY379898;AY379899;AY379900;AY379902;AY379904;AY379906;AY379908;AY379912;AY379913;AY379914;AY379915;AY379916;AY379917;AY379918;AY379919;AY379920;AY379921;AY379922;AY379923;AY379928;AY379929;AY379930;AY379931;AY379932;AY379933;AY379934;AY379935;AY379960;AY379961;AY379962;AY379963;AY379964;AY379965;AY379966;AY379967;AY379968;AY379969;AY379970;AY379971;BC012372;BC016933;BC063289;BC144546;BC146673;BC146849;BC151204;BC171786;BX452374;CR753845;CR936924;K00830;K02403;L26261;M14823;M14824;M59815;M59816;NG_011638;NM_001252204;NM_007293;S58715;S81585;U07851;U07852;U07853;U07855;V00502;X77491;XM_006725947 AAA20121;AAA35617;AAA36229;AAA51855;AAA52292;AAB26211;AAB36122;AAB59537;AAB63418;AAB63419;AAB63420;AAB63422;AAH12372;AAH63289;AAI44547;AAI46674;AAI46850;AAI51205;AAI71786;AAP83249;AAR89091;AAR89093;AAR89107;AAR89108;AAR89109;AAR89110;AAR89112;AAR89114;AAR89115;AAR89116;AAR89117;AAR89118;AAR89119;AAR89120;AAR89121;AAR89122;AAR89123;AAR89124;AAR89125;AAR89126;AAR89127;AAR89130;AAR89132;AAR89134;AAR89136;AAR89139;AAR89140;AAR89141;AAR89142;AAR89143;AAR89144;AAR89145;AAR89146;AAR89147;AAR89148;AAR89149;AAR89150;AAR89155;AAR89156;AAR89157;AAR89158;AAR89159;AAR89160;AAR89161;AAR89162;AAR89164;AAR89165;AAR89166;AAR89167;AAR89168;AAR89169;AAR89170;AAR89171;AAR89172;AAR89173;AAR89174;AAR89175;BAE06071;BAG56731;BAH11494;CAA23760;CAA54627;NP_001239133;NP_009224;P0C0L4;XP_006726010 Hs.534847;Hs.720022 1648514;1712246;1745799;1769516;2106659;2121053;2143466;5127416 G54031;GDB:642029;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623;STK19__5340 C4;C4A2;C4A3;C4A4;C4A6;C4AD;C4S;CO4;CPAMD2;MGC164979;RG C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2;C4A anaphylatoxin;OTTHUMP00000029266;OTTHUMP00000216221;Rodgers form of C4;acidic C4;acidic complement C4;complement C4-A;complement component 4a APPROVED protein-coding ENSG00000244731 HGNC:1323 00401 120810;152700;614374;614380 REVIEWED 1352720 C4orf17 chromosome 4 open reading frame 17 4 4 4 q23 97729579 97760871 + 100432161 100463460 + 99511004 99542303 + 11230166;12477932;14702039;15489334;16169070;16344560;23319000;23455924;23568457;23936387;8125298 84103 D6RHU4;Q53FE4;Q8NA78 ABBA01063673;AC083902;AK093085;AK223345;AK314711;AL136838;AMYH02009797;AMYH02009798;AP001960;BC069805;BC074759;CH471057;CR533542;DB051883;NM_032149 AAH69805;AAH74759;BAC04048;BAD97065;BAG37256;CAB66772;CAG38573;EAX06102;EAX06103;NP_115525;Q53FE4 Hs.97501 1686814;1764301;1785040 RH98528;SHGC-147917;SHGC-154039 DKFZP434G072 OTTHUMP00000161654;OTTHUMP00000220331;hypothetical protein LOC84103;uncharacterized protein C4orf17 protein-coding ENSG00000138813 HGNC:25274 12825 VALIDATED 1602474 C4orf19 chromosome 4 open reading frame 19 INTERACTS WITH 17beta-estradiol; 3-methylcholanthrene; all-trans-retinoic acid 4 4 4 p14 37895413 38034606 + 37455552 37595132 + 37453930 37593510 + 6480464 12477932;14702039;15342556;16344560;20379614;20802204;8125298 55286 D6RFF1;Q8IY42 ABBA01074302;ABBA01074303;ABBA01074304;ABBA01074305;ABBA01074306;ABBA01074307;ABBA01074308;AC022463;AC027607;AI050941;AK001879;AK225192;AMYH02009027;AMYH02009028;BC037906;BP220791;CF995148;CH471069;DA684897;NM_001104629;NM_018302 AAH37906;BAA91958;EAW92882;EAW92883;NP_001098099;NP_060772;Q8IY42 Hs.107527 1716467;1750613;2118437;2132421;2137939;2141024 D4S2544E;D4S745;RH121413;SHGC-111906;SHGC-59841;SHGC-67963 FLJ11017 OTTHUMP00000158731;OTTHUMP00000158732;hypothetical protein LOC55286;uncharacterized protein C4orf19 protein-coding HGNC:25618 07725 VALIDATED 736875 C4BPB complement component 4 binding protein, beta This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008] 1 1 1 q32 180513773 180524901 + 207262210 207273338 + 207088867 207099993 + 1580863;6480464;6484113;6907045 12193728;12477932;12492479;14607961;14702039;14718574;15179322;15489334;15967823;16330538;16335952;16710414;17597997;18842294;19284503;19344414;19423540;19494311;20212171;20237496;20379614;20406964;20438785;20693287;21856004;21963094;2237642;22514678;2300577;23390292;24064215;2970465;7561113;8325877;8598458;9089100 725 E7EQT9;P20851;Q5VVQ7 ABBA01048247;AC247050;AK092427;AK293379;AK315137;AL445493;BC005378;BG568018;BM987840;CH471100;EF613556;H63461;L11245;L11246;M29964;NG_029386;NM_000716;NM_001017364;NM_001017365;NM_001017366;NM_001017367;U31765;XM_005273253;XM_005273254;XM_005273255 AAA35616;AAB59520;AAH05378;ABQ52216;ADZ15873;BAG56891;EAW93504;EAW93505;EAW93506;NP_000707;NP_001017364;NP_001017365;NP_001017366;NP_001017367;P20851;XP_005273310;XP_005273311;XP_005273312 Hs.99886 1687630;1742401;2163927;2169990;2180368;2186392;5019759;5037552;5106339;5121082 A009P34;D1S3277;D8S2279;G32746;GDB:196645;RH36383;RH46587;RH68537;RH69004;SHGC-76271 C4BP C4b binding protein, beta chain;C4b-binding protein beta chain;OTTHUMP00000034288;OTTHUMP00000034289;OTTHUMP00000034374;OTTHUMP00000034375;complement component 4 binding protein, beta chain;complement component 4-binding protein, beta APPROVED protein-coding ENSG00000123843 HGNC:1328 00404 120831 REVIEWED 1604791 C4orf29 chromosome 4 open reading frame 29 FOUND IN extracellular region (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 4 4 4 q28.2 126267834 126333840 + 128886411 128957478 + 127965256 128036326 + 6480464 12477932;21890473;24250222 80167 B7WP89;D6RD85;D6RGX5;Q0P651 ABBA01044799;ABBA01044800;ABBA01044801;ABBA01044802;ABBA01044803;ABBA01044804;AC099340;AK024759;AMYH02010073;AMYH02010074;AMYH02010075;BC034253;BC058847;BC058898;BC075793;BC111400;BC128142;BC128143;BX500590;CH471056;NM_001039717;XM_005263238;XM_005263241;XM_005263242;XM_005263243;XM_006714318;XM_006714319;XM_006714320;XM_006714321;XM_006714322;XM_006714323;XM_006714324;XM_006714325 AAH34253;AAI28143;AAI28144;BAB14990;EAX05189;EAX05190;EAX05191;EAX05192;NP_001034806;Q0P651;XP_005263295;XP_005263298;XP_005263299;XP_005263300;XP_006714381;XP_006714382;XP_006714383;XP_006714384;XP_006714385;XP_006714386;XP_006714387;XP_006714388 Hs.445817 1644249;1661184;1700200;1776277;5015961;5016478 D15S1477;GDB:434012;RH103716;RH36511;RH46171;STS-H40321 FLJ21106;MGC149227;MGC149228 OTTHUMP00000164426;hypothetical protein LOC80167;uncharacterized protein C4orf29 protein-coding ENSG00000164074 HGNC:26111 07953 PREDICTED 1606274 C4orf27 chromosome 4 open reading frame 27 FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; cobalt dichloride 4 4 4 q33 167983601 168012093 - 170650619 170679093 - 169729468 169757942 - 6480464 11076863;11230166;11256614;12477932;14702039;15489336;16169070;16381901;16712791;19505873;20379614;21139048;22505724;24816145 54969 Q9NWY4 ABBA01070342;ABBA01070343;AC106878;AK000541;AK090742;AK124036;AL136673;AMYH02010482;BC010367;BM905677;CB141427;CH471056;DN990093;NM_017867 AAH10367;BAA91241;CAB66608;CAL37758;EAX04780;EAX04781;NP_060337;Q9NWY4 Hs.406756 5124063 RH41158 FLJ20534;FLJ33423;FLJ42042 OTTHUMP00000219418;UPF0609 protein C4orf27;hypothetical protein LOC54969 protein-coding ENSG00000056050 HGNC:26051 07924 VALIDATED 1604907 C4orf3 chromosome 4 open reading frame 3 FOUND IN integral component of membrane (inferred); INTERACTS WITH coumestrol; dioxygen; lead(0) 4 4 4 q26 117579164 117587192 - 120217574 120225600 - 119296419 119304445 - 6480464 12477932;15146197;16174453;16344560;17207965;20332099;24250222;8889548 401152 Q8WVX3 ABBA01044706;AC092656;AF075061;AK024537;AK025703;AMYH02009989;AY605045;BC017399;BU739784;CH471229;CN361054;DA353224;LN608008;NM_001001701;NM_001170330 AAH17399;AAT35812;ADQ32691;EAW73665;NP_001001701;NP_001163801;Q8WVX3 Hs.173705 1664849;1674210;2132898;2164525 SHGC-32100;SHGC-59293;SHGC-59810;SHGC-59853 HCV F-transactivated protein 1;OTTHUMP00000220063;OTTHUMP00000223700;hepatitis C virus F protein-transactivated protein 1;hypothetical protein LOC401152;uncharacterized protein C4orf3 APPROVED protein-coding ENSG00000164096 HGNC:19225 14223 VALIDATED 1604986 C4orf26 chromosome 4 open reading frame 26 Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012] 4 4 4 q21.1 73777392 73786055 + 76481258 76491103 + 75556048 75565893 + 8699517;8554872;7240710 12477932;22658654;22901946 152816 D6RFW7;Q17RF5 ABBA01063344;AC096759;AC247041;AK074237;AK172776;AK300227;AMYH02009490;BC061701;BC117342;BC144003;BC144005;BX377852;CH471057;HC006960;NG_032974;NM_001206981;NM_001257072;NM_178497;NR_046429;NR_046430;R32248 AAI17343;ADR82804;BAB85027;BAD18758;BAG61995;CBH19285;EAX05738;EAX05739;NP_001193910;NP_001244001;NP_848592;Q17RF5 Hs.24510 2123427;2128837;5037552 D8S2279;G16705;SHGC-50699 AI2A4;FLJ23657;FLJ23937;FLJ53097;MGC150951 OTTHUMP00000160597;OTTHUMP00000219249;hypothetical protein LOC152816;uncharacterized protein C4orf26 protein-coding ENSG00000174792 HGNC:26300 08040 614829;614832 REVIEWED 1606121 C4orf22 chromosome 4 open reading frame 22 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 4 4 4 q21.21 78550408 79177954 + 81256861 81884910 + 80335707 80963756 + 8554872 12477932;18519826;20379614;21832049;23251661;23824909 255119 E7EPK2;G5E9Y8;Q6V702 ABBA01063403;ABBA01063404;ABBA01063405;ABBA01063406;ABBA01063407;ABBA01063408;ABBA01063409;ABBA01063410;ABBA01063411;AC021127;AC093876;AC093883;AC098822;AC105917;AI650567;AK128642;AMYH02009565;AMYH02009566;AMYH02009567;AMYH02009568;AMYH02009569;AMYH02009570;AMYH02009571;AMYH02009572;AMYH02009573;AMYH02009574;AMYH02009575;AY349359;BC034296;CH471057;DB522959;KF457781;NM_001206997;NM_152770;XM_005262883;XM_006714169;XR_244623 AAH34296;AAQ56723;ABM84123;ABM84124;ABM87151;ABM87152;ABM87153;ABM87533;ABM87534;BAC87545;EAX05861;EAX05862;EAX05863;EAX05864;EAX05865;NP_001193926;NP_689983;Q6V702;XP_005262940;XP_006714232 Hs.527104 1662962;1688867;1710464;1725541;1737535;1751151;1755371;1762285;1774513;2122984;2164750 D4S1130;D4S2690;D4S3208;RH119169;RH94079;SHGC-105105;SHGC-142252;SHGC-146136;SHGC-51338;SHGC-86246;SHGC4-1672 MGC35043 OTTHUMP00000160797;OTTHUMP00000219240;hypothetical protein LOC255119;uncharacterized protein C4orf22 protein-coding ENSG00000197826 HGNC:28554 14597 VALIDATED 1606159 C4orf36 chromosome 4 open reading frame 36 INTERACTS WITH 3-methylcholanthrene; benzo[a]pyrene; copper(2+) sulfate 4 4 4 q21.3 85086805 85103009 - 87797358 87824820 - 86876205 86910583 - 6480464 12477932;14702039;15342556;15489334;20379614;22470424;23568457 132989 D6RAE1;D6RCP1;D6RF10;D6RGW9;Q96KX1 ABBA01063513;AC093827;AMYH02009662;BC016746;BC063410;BP289794;BX090513;CH471057;NM_144645;XM_005262756;XM_006714082;XM_006714083 AAH16746;EAX05970;NP_653246;Q96KX1;XP_005262813;XP_006714145;XP_006714146 Hs.339646 MGC26744 OTTHUMP00000161171;OTTHUMP00000219442;OTTHUMP00000219445;OTTHUMP00000219447;hypothetical protein LOC132989;uncharacterized protein C4orf36 protein-coding ENSG00000163633 HGNC:28386 14511 VALIDATED 1606723 C4orf32 chromosome 4 open reading frame 32 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; all-trans-retinoic acid 4 4 4 q25 110359983 110403664 + 113066553 113110237 + 112145397 112189081 + 6480464 12477932;14702039;18437351;19322201;19380854;20332099;21139048;21906983;21963094;23349771 132720 Q8N8J7 ABBA01063814;AC093663;AC109347;AI634637;AK096689;AMYH02009931;BC022534;BC041964;BI463956;CH471057;NM_152400 AAH22534;AAY40961;BAC04841;EAX06266;NP_689613;Q8N8J7 Hs.23439 1644452;1724937;2125262;2168628;2172618;2181379 D4S2449;RH119235;SHGC-18154;SHGC-36541;SHGC-50578;SHGC-60034 FLJ39370 OTTHUMP00000163750;uncharacterized protein C4orf32 protein-coding HGNC:26813 08252 VALIDATED 1606430 C4orf46 chromosome 4 open reading frame 46 This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] 4 4 4 q32.1 156928857 156934241 - 159587827 159593407 - 158666675 158672255 - 6480464;8554872 12477932;14702039;16303743;16344560;19322201;21832049;23602568;24250222;24816145;25059753;8889548 201725 D6RFF4;Q504U0 ABBA01070208;AC107219;AK027539;AK074948;AK311718;AMYH02010374;BC065017;BC094775;BI823282;BU688970;CH471056;CQ783770;DB289388;NG_033150;NM_001008393;NR_077234;NR_077235 AAH65017;AAH94775;BAG51339;BAG52038;CAF86853;EAX04855;NP_001008394;Q504U0 Hs.380920;Hs.735449 1688953;1775993;1807560;2048086;2048090;2104522;2141686;2162072;5113271 ECD04752;REN95180;REN95182;RH41930;RH93633;SHGC-33796;STS-T95868;STS-W61113;stSG608963 RCDG1 OTTHUMP00000220837;OTTHUMP00000221325;hypothetical protein LOC201725;renal cancer differentiation gene 1;uncharacterized protein C4orf46 protein-coding ENSG00000205208 HGNC:27320 17319 VALIDATED 1602179 C4orf45 chromosome 4 open reading frame 45 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH daunorubicin 4 4 4 q32.1 157155716 157297403 - 159814684 159956333 - 158893532 159035181 - 6480464;8554872 15342556;16344560;20379614 152940 Q96LM5 ABBA01070211;ABBA01070212;ABBA01070213;ABBA01070214;ABBA01070215;ABBA01070216;AC093700;AC109823;AK058100;AK307319;AMYH02010380;AMYH02010381;AMYH02010382;AMYH02010383;BP369394;CH471056;DB037602;KF457823;NM_152543 AAI72327;BAB71665;EAX04851;NP_689756;Q96LM5 Hs.415576 1684174;1684977;1714541;1761351;1770240;1785200;1855485;2154113;2172373;2185339 C027ZB9;RH119783;RH45922;SHGC-145362;SHGC-25153;SHGC-67962;SHGC-68047;SHGC-68119;SHGC-84316;STS-Z41140 FLJ25371 OTTHUMP00000220951;hypothetical protein LOC152940;uncharacterized protein C4orf45 protein-coding HGNC:26342 08058 VALIDATED 2298813 C4orf47 chromosome 4 open reading frame 47 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; dioxygen; ethyl methanesulfonate 4 4 4 q35.1 183676735 183698471 + 186347220 186370982 + 185426028 185449828 + 6480464;8554872 12477932;15489334;15809229;20379614 441054 A7E2U8;D6R9T4;D6RB10;D6RCA9 ABBA01070532;AC106897;AMYH02010662;AMYH02010663;AY947525;BC127739;BC141967;BC141968;BC150574;NM_001114357;XM_005263019;XM_006714223;XM_006714224;XM_006714225;XM_006714226 A7E2U8;AAI50575;AAX21786;NP_001107829;XP_005263076;XP_006714286;XP_006714287;XP_006714288;XP_006714289 Hs.549398 2145706;5094798 ATT077P;STS-H64141 OTTHUMP00000218242;UPF0602 protein;UPF0602 protein C4orf47;hypothetical protein LOC441054 protein-coding ENSG00000205129 HGNC:34346 PREDICTED 2301122 C4orf48 chromosome 4 open reading frame 48 FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; quercetin; valproic acid 4 4 4 p16.3 1955927 1957904 + 2043720 2045697 + 2041993 2043970 + 6480464 12477932;15809229;21287218;24250222 401115 Q5BLP8;X6RBU3 ABBA01029524;AI929674;AL132868;AMYH02008597;AW157771;AY947524;BC038466;BC047038;BC062790;BQ129383;CH471131;NM_001141936;NM_001168243 AAX21785;EAW82542;EAW82543;NP_001135408;NP_001161715;Q5BLP8 Hs.446474 1745935 G64299 CHR4_55 OTTHUMP00000205822;OTTHUMP00000205823;hypothetical protein LOC401115;neuropeptide-like protein C4orf48 protein-coding ENSG00000243449 HGNC:34437 614690 VALIDATED 1602802 C4orf50 chromosome 4 open reading frame 50 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 4 p16.2 5858375 5889687 - 5899318 5992175 - 5897591 5990448 - 8554872 12477932;20379614;23720494 389197 E9PNW5;Q6ZRC1 ABBA01008268;ABBA01008269;AC092442;AC105915;AC109593;AK128339;AMYH02008659;AMYH02008660;BC140710;XM_003118524;XM_003119922;XM_003960335 AAI40711;BAC87391;Q6ZRC1;XP_003118572;XP_003119970;XP_003960384 Hs.479065 2121648;2143697;2164255 SHGC-24741;SHGC-59715;STS-Z40860 FLJ46481 OTTHUMP00000195600;hypothetical protein LOC389197;uncharacterized protein C4orf50 protein-coding HGNC:33766 13538 MODEL 2974931 C4orf51 chromosome 4 open reading frame 51 4 4 4 q31.21 143928891 143981824 + 146601356 146653949 + 145680121 145754277 + 646603 C9J302;H0Y9W7 ABBA01070034;ABBA01070035;ABBA01070036;ABBA01070037;AC093864;AC107212;AMYH02010258;AMYH02010259;NM_001080531;XM_006714289 C9J302;NP_001074000;XP_006714352 Hs.452865 1763465 SHGC-147171 OTTHUMP00000220285;uncharacterized protein C4orf51 protein-coding ENSG00000237136 HGNC:37264 INFERRED 1350555 C4orf6 chromosome 4 open reading frame 6 This gene is expressed in neuroblastoma; however, the function of this gene is not yet determined. [provided by RefSeq, Jul 2008] 4 4 4 p16.2 5424543 5427188 + 5526883 5529528 + 5525156 5527801 + 6480464 12477932;15489334;18454448;8889548;9016955 10141 H0Y9I1;Q99440 ABBA01008259;AC004664;AMYH02008654;BC117444;BC117446;BM978917;BX094519;CH471131;D82070;NM_005750 AAI17445;AAI17447;ADR83316;BAA11534;EAW82415;NP_005741;Q99440 Hs.177972 2139182 RH68303 aC1 OTTHUMP00000155146;OTTHUMP00000217284;expressed in neuroblastoma;uncharacterized protein C4orf6 APPROVED protein-coding ENSG00000082929 HGNC:13716 12826 REVIEWED 1601935 C4orf33 chromosome 4 open reading frame 33 INTERACTS WITH 17beta-estradiol; aflatoxin B1; cyclosporin A 4 4 4 q28.2 127396845 127415860 + 130014829 130034487 + 129093674 129113332 + 6480464 12477932;14702039;17567985;18187620 132321 D6RD26;D6RIS3;D6RIT3;Q8N1A6 ABBA01044830;AC093826;AK091022;AK309229;AMYH02010096;BC016358;BC032582;BE566349;BP871612;BQ549846;BU783470;BX538164;CH471056;CN483524;NM_001099783;NM_173487;XM_005262734;XM_005262735;XM_005262736;XM_006714080 AAH16358;AAH32582;BAC03568;CAD98044;EAX05161;EAX05162;EAX05163;EAX05164;EAX05165;EAX05166;NP_001093253;NP_775758;Q8N1A6;XP_005262791;XP_005262792;XP_005262793;XP_006714143 Hs.567679 1654948;1715143;2127735 D4S2553E;RH119524;SHGC-32420 FLJ33703 OTTHUMP00000164486;OTTHUMP00000220026;OTTHUMP00000220994;UPF0462 protein C4orf33;hypothetical protein LOC132321 protein-coding ENSG00000151470 HGNC:27025 14049 VALIDATED 1343214 C5orf10 chromosome 5 open reading frame 10 170747 HGNC:17703 735934 C5 complement component 5 The protein encoded by this gene is the fifth component of complement, which plays an important role in inflammatory and cell killing processes. This protein is comprised of alpha and beta polypeptide chains that are linked by a disulfide bridge. An activation peptide, C5a, which is an anaphylatoxin that possesses potent spasmogenic and chemotactic activity, is derived from the alpha polypeptide via cleavage with a convertase. The C5b macromolecular cleavage product can form a complex with the C6 complement component, and this complex is the basis for formation of the membrane attack complex, which includes additional complement components. Mutations in this gene cause complement component 5 deficiency, a disease where patients show a propensity for severe recurrent infections. Defects in this gene have also been linked to a susceptibility to liver fibrosis and to rheumatoid arthritis. [provided by RefSeq, Jul 2008] 9 9 9 q33-q34 94363035 94461011 - 123714613 123812554 - 120952335 121050276 - 1600637;1600651;1600652;1600655;1600599;1580863;1600658;1600665;1600666;1600592;1600597;5129512;5130153;5130158;5130162;5130159;5130160;5129681;5130180;5130161;5129688;5130175;5129705;5130170;5130154;5130150;5129706;5130168;5129707;6480464;6907045;7240710;7411733;7411626;8554872;8699517 10188960;10486240;10516626;10973279;11136932;11292607;11422211;11591795;12355496;14688199;15158333;15278436;15995705;16849499;17079327;17975174;18648551;20143644;20500690;20802484;20975959;23067403;2612053;3264125;3540828;3631740;3826891;3985125;7814608;9631876 10352266;106884;10820279;11367533;11752456;11939578;12477932;12488432;12878586;12881318;12937147;1387399;14556080;14566334;14662858;15383587;15488949;15550394;15585680;15598652;15768031;15778377;15879120;16335952;16452172;16670089;16823297;16879222;17023413;17322907;17428459;17482181;17498719;17505301;17533009;17634448;17644516;17703412;17804836;17880261;18039528;18240029;18300128;18411281;1847994;18576341;18644651;18714034;18759306;18953960;18974840;19028820;19056867;19110536;19116907;19131662;19162005;19180477;19225544;19230171;19247692;19258923;19263529;19265162;19324972;19336421;19344414;19375167;19401279;19414197;19416238;19423540;19479237;19503088;19559392;19565500;19674979;19729601;19741008;19843088;1984448;19864026;19902201;19909405;19913121;19918040;19948975;1996961;20022638;20030635;20049410;20109314;20124699;20133685;20205706;20219786;20233754;20237496;20353580;20406964;20424189;20438785;20444755;20453842;20479942;20498205;20503287;20536507;20545943;20591742;20603037;20628086;20797713;20813982;20822712;20880552;20962850;21393613;21890473;21926466;22244896;22258234;22284611;22308306;22452399;22496247;22500023;22528500;22802338;22812419;22820624;23028051;23071133;23235303;23321589;23333304;23371790;23401592;23602531;23662819;23792503;23833239;24060963;24390342;24516199;24521109;24554772;24802103;2579066;2730871;2784981;2808363;3052276;3365401;3408713;3624872;690134;7649993;7661861;7730648;7835913;7911492;8175701;8630395;8702752;8759757;8889548;8898085;9007977;9188742;9218605;9553099;9590258 727 P01031 AB209031;ABBA01016235;ABBA01016236;ABBA01016237;ABBA01016238;ABBA01016239;AC006430;AK310774;AK310780;AMYH02021575;AMYH02021576;AV682721;BC022299;BC113738;BC113740;BG533927;CB250401;CH471090;DQ400449;M57729;M65134;NG_007364;NM_001735;T82068 AAA51856;AAA51925;AAB35171;AAI13739;AAI13741;ABD48959;BAD92268;EAW87480;NP_001726;P01031 Hs.494997 1657620;1795206;1851945;1852909;2186007;2217090 C5_001;C5_3095;D9S2050;G29157;SHGC-52622;WI-12734 C5D;C5a;C5b;CPAMD4;ECLZB;FLJ17816;FLJ17822;MGC142298 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4;C5a anaphylatoxin;OTTHUMP00000022001;anaphylatoxin C5a analog;complement C5;prepro-C5 APPROVED protein-coding ENSG00000106804 HGNC:1331 00405 120900;609536;615749 REVIEWED 1350810 C5AR1 complement component 5a receptor 1 ENCODES a protein that exhibits C5a anaphylatoxin receptor activity; complement component C5a receptor activity; INVOLVED IN complement component C5a signaling pathway; mRNA transcription from RNA polymerase II promoter; positive regulation of epithelial cell proliferation; PARTICIPATES IN coagulation cascade pathway; complement system pathway; Staphylococcus aureus infection pathway; ASSOCIATED WITH Alzheimer Disease; Asthma; Pulmonary Disease, Chronic Obstructive; FOUND IN apical part of cell; basolateral plasma membrane; INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; 2-naphthylamine 19 19 19 q13.3-q13.4 44616992 44629218 + 47813104 47825327 + 47309847 47322070 + 1580863;5130168;5130169;5129704;5130170;5129559;5129560;5130177;5130166;5129564;1600652;5129681;5129561;5129702;1600597;5130167;5130165;5130180;5130176;6480464;6907045;7411625;8554872 10516626;11292607;11422211;12759460;12897064;14718840;15158333;15159277;15940127;16511606;17544263;18648551;19050293;19926870;20802484;21421909;23118029;5129564 10352266;10597774;10963136;11342590;11705397;11733378;11773063;12091343;12453150;12464600;12477932;12600272;12651630;12794141;14570896;15039137;15128829;15144465;15278436;15485893;15489334;15550394;15768031;15944400;1612600;16301808;16341674;16778800;16879222;17023413;17068344;17090530;17135254;17199736;17234193;17322907;17724165;17804836;18187666;18240029;1847994;18538384;18753257;18772131;19005416;19251703;19308263;19324972;19333232;19344414;19423540;19464229;19657723;19789190;19864971;20044484;2007135;20406964;20438785;20473571;20484595;20500690;21292772;21613290;21628869;21963094;22187344;22244896;22441801;22496247;22608366;22960554;23041570;23268185;23287562;23346183;23394121;23402022;23479227;23684309;23706417;23874603;24043889;24192237;24265019;24446515;2541200;7521884;7642584;7649993;7962171;8383526;8573284;8702752;8759762;8779720;9553099;9590258 728 M0QZK7;P21730 ABBA01041024;ABBA01041025;AC099491;AMYH02036259;AY221091;BC008982;BE042476;BI916506;BM830753;BT007358;CH471126;M62505;NM_001736;S56557;X57250;X58674;XM_005259190 AAA62831;AAD14919;AAH08982;AAO65969;AAP36022;ABM82683;ABM85866;CAA40530;CAB37830;EAW57470;EAW57471;NP_001727;P21730;XP_005259247 Hs.2161 1741855;1795204 C5R1_STS1;GDB:185765 C5A;C5AR;C5R1;C5a-R;CD88 C5a anaphylatoxin chemotactic receptor;C5a anaphylatoxin chemotactic receptor 1;C5a anaphylatoxin receptor;C5a ligand;complement component 5 receptor 1;complement component 5 receptor 1 (c5a ligand) protein-coding ENSG00000197405 HGNC:1338 00224 113995 VALIDATED 1354173 C5AR2 complement component 5a receptor 2 This gene encodes a G-protein coupled receptor 1 family member involved in the complement system of the innate immune response. Unlike classical G-protein coupled receptors, the encoded protein does not associate with intracellular G-proteins. It may instead modulate signal transduction through the beta-arrestin pathway, and may alternatively act as a decoy receptor. This gene may be involved in coronary artery disease and in the pathogenesis of sepsis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 19 19 19 q13.33 44644255 44649165 + 47835404 47845272 + 47332147 47342015 + 1580863;6480464;8554872 11090875;11165367;11773063;12477932;12540846;14570896;15342556;15489334;15634936;15833747;16204243;16344560;17068344;17158873;17322907;19100624;19615750;19767107;20044484;21630250;21698200;22180093;22187344;22194190;22441801;22496247;22812419;22960554;23239822;23394121;23460866;23785491;24073849;24078164 27202 Q6NWR0;Q9P296 AB038237;ABBA01041025;ABBA01041026;AC008754;AC099491;AF317655;AK313994;AMYH02036259;AY268430;BC067477;BC067478;BC067479;BC067480;BP370117;CH471126;CS173027;DA673976;KF456591;NM_001271749;NM_001271750;NM_018485 AAH67477;AAH67478;AAH67479;AAH67480;AAK12640;AAP23197;BAA95414;BAG36706;CAJ33695;EAW57472;NP_001258678;NP_001258679;NP_060955;Q9P296 Hs.534412 1797656 GPR77_2341 C5L2;GPF77;GPR77 C5a anaphylatoxin chemotactic receptor 2;C5a anaphylatoxin chemotactic receptor C5L2;G protein-coupled receptor 77;G protein-coupled receptor C5L2;G-protein coupled receptor 77 APPROVED protein-coding ENSG00000134830 HGNC:4527 17072 609949 REVIEWED 1606242 C5orf23 chromosome 5 open reading frame 23 5 5 p13.3 32670577 32673451 + 32788945 32791819 + 11256614;12477932;14702039;15489334;19570815;19913121;20628086 79614 AC026703;AK024116;BC022250;CH471118;NM_024563 AAH22250;BAB14832;EAX10800;NP_078839;Q9H7Z1 Hs.13528 FLJ14054 hypothetical protein LOC79614 protein-coding HGNC:25861 08593 1321206 C5orf15 chromosome 5 open reading frame 15 FOUND IN integral component of membrane (inferred); INTERACTS WITH paracetamol; vincaleukoblastine; aflatoxin B1 (ortholog) 5 5 5 q31.1 129414883 129428091 - 133291198 133304406 - 133955507 133968715 - 6480464 12477932;12752121;14702039;15342556;15489334;16303743;18951430;19322201;21139048;21832049;21890473;21906983;21963094;21987572;22505724;23000965;24529757;8619474;8889548;9110174 56951 B4DPV8;Q8NC54 ABBA01068770;AC025177;AF035313;AF226055;AK074963;AK298515;AK315362;AMYH02012234;AMYH02012235;AMYH02012236;AY157581;BC020875;BM681428;BP245947;CH471062;CS300550;NM_020199 AAF86955;AAH20875;AAO13165;ABM82948;ABM86140;BAC11319;BAG37757;BAG60720;CAK32214;EAW62287;EAW62288;NP_064584;Q8NC54 Hs.744034 2128802;2133865;5092736 A005V24;G32296;RH35974 HTGN29;KCT2 OTTHUMP00000159392;keratinocyte-associated transmembrane protein 2;keratinocytes associated transmembrane protein 2 protein-coding ENSG00000113583 HGNC:20656 12829 VALIDATED 1605291 C5orf24 chromosome 5 open reading frame 24 INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; hydrogen peroxide 5 5 5 q31.1 130309065 130323730 + 134181370 134195425 + 134845680 134859735 + 6480464 12477932;14702039;16344560;17207965;21890473;23000965;24250222 134553 H0YAE0;Q7Z6I8 ABBA01068736;AC006077;AF085880;AJ437658;AK094881;AMYH02012253;AV707506;BC045567;BC053677;BX640771;BX648529;CH471062;DA433671;DA760705;NM_001135586;NM_001300894;NM_152409;XM_005271889;XM_005271890 AAH53677;ADQ32595;BAC04448;CAD26900;EAW62234;EAW62235;EAW62236;NP_001129058;NP_001287823;NP_689622;Q7Z6I8;XP_005271946;XP_005271947 Hs.708536 1699608;1785664;2116355;2175101;5091871 A007F30;RH103405;RH47430;SHGC-64770;STS-N26241 FLJ37562 OTTHUMP00000159384;OTTHUMP00000223106;OTTHUMP00000223108;OTTHUMP00000223109;UPF0461 protein C5orf24;hypothetical protein LOC134553 protein-coding ENSG00000181904 HGNC:26746 08226 VALIDATED 7246716 C5orf17 chromosome 5 open reading frame 17 INTERACTS WITH paracetamol 5 p14.2 23951673 23980095 + 6480464 14702039;22379092 439936 Q8NAS9 AC026784;AC108093;AK092155;BI198197;BQ950913;DQ323997;XR_132502;XR_133395;XR_171491 ABC88599;Q8NAS9 Hs.638078 protein-coding HGNC:26630 1605070 C5orf22 chromosome 5 open reading frame 22 INTERACTS WITH etoposide; methyl methanesulfonate; trichostatin A 5 5 5 p13.3 31412843 31435644 + 31532373 31555165 + 31532266 31555058 + 6480464 12477932;14702039;16189514;16344560;19322201;21139048;21890473;21906983;21963094;22053931;24654937;8619474;8889548;9110174 55322 B4DR92;E5RFG1;E5RHP8;Q49AR2 ABBA01066717;AC022417;AF038176;AF085882;AI300780;AK002055;AK074385;AK299156;AL834427;AMYH02011113;AV710784;BC021215;BC032845;BM683466;CH471118;DA783320;DC404356;NM_018356;XM_005248319;XM_006714479;XM_006714480;XR_241704 AAH21215;AAH32845;BAA92060;BAG61204;CAD39088;EAX10771;EAX10772;EAX10773;EAX10774;NP_060826;Q49AR2;XP_005248376;XP_006714542;XP_006714543 Hs.519246 1654744;1739643;2127965;2176814;5095034 C5orf22;D5S1928E;G31097;RH36313;RH79023 DKFZp667N066;FLJ11193;FLJ23805;MGC33010 OTTHUMP00000161701;UPF0489 protein C5orf22;hypothetical protein LOC55322 protein-coding ENSG00000082213 HGNC:25639 07740 VALIDATED 1602449 C5orf30 chromosome 5 open reading frame 30 INVOLVED IN cilium morphogenesis (ortholog); FOUND IN ciliary transition zone; cytoplasm; INTERACTS WITH (-)-demecolcine; aflatoxin B1; all-trans-retinoic acid 5 5 5 q21.1 98542288 98562209 + 102594442 102614361 + 103258741 103278660 + 6480464 12477932;14702039;19060904;19322201;20453842;21988832;22085962;23817893;24390342;8619474;9110174 90355 Q96GV9 ABBA01069145;AC011362;AF038182;AK058020;AK090558;AMYH02011881;BC009203;CH471086;NM_033211;XM_005272123;XM_005272125 AAH09203;ADZ15830;BAC03478;EAW49075;NP_149988;Q96GV9;XP_005272180;XP_005272182 Hs.482976 1699666;1854441;2115251;2173992;2173994;2173996;2173998 D5S1572E;RH103437;RH36330;RH47357;RH47369;SGC34527;WI-22600 FLJ25291 OTTHUMP00000158932;OTTHUMP00000222713;OTTHUMP00000222714;UNC119-binding protein C5orf30;UPF0684 protein C5orf30;hypothetical protein LOC90355 protein-coding ENSG00000181751 HGNC:25052 12383 PROVISIONAL 1601916 C5orf34 chromosome 5 open reading frame 34 INTERACTS WITH 1-nitropyrene; aflatoxin B1; atrazine 5 5 5 p12 43377936 43406275 - 43486803 43515273 - 43486701 43515445 - 6480464 12477932;14702039;21906983;21963094;21987572 375444 E9PBC3;H0YAD0;Q96MH7 ABBA01024257;AC025457;AC114956;AK056925;AK303336;AMYH02011247;AW002049;BC036867;CH471119;DB453004;KF457895;KF459895;KF459900;NM_198566;XM_006714473 AAH36867;BAB71311;BAG64399;EAW56065;NP_940968;Q96MH7;XP_006714536 Hs.661641;Hs.733375 FLJ32363;MGC46448 OTTHUMP00000161802;hypothetical protein LOC375444;uncharacterized protein C5orf34 protein-coding ENSG00000172244 HGNC:24738 13407 VALIDATED 1605053 C5orf28 chromosome 5 open reading frame 28 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenous acid; benzo[a]pyrene 5 5 5 p12 43335476 43375118 - 43444354 43484171 - 43444252 43484146 - 6480464 12477932;14702039;15489334;16344560;21832049 64417 D6RAV6;E9PBX6;Q0VDI3;Q6GMT5 ABBA01024257;AC025457;AK025310;AK225220;AK315466;AL137306;AMYH02011244;AMYH02011245;AMYH02011246;AMYH02011247;BC013351;BC063832;BC073852;BC119658;BC119659;CH471119;DA028175;DA035926;NM_022483;XM_005248333;XM_005248334;XM_005248335;XM_005248336;XM_006714485;XM_006714486 AAH13351;AAH63832;AAH73852;AAI19659;AAI19660;BAB15108;BAG37853;EAW56061;EAW56062;EAW56063;EAW56064;NP_071928;Q0VDI3;XP_005248390;XP_005248391;XP_005248392;XP_005248393;XP_006714548;XP_006714549 Hs.732093 1656420;1850443;1852765;5024039;5037552;5119219 D16S325;D5S1925E;D8S2279;G30173;RH46937;SHGC-64113 FLJ21657;MGC149524;MGC90226 OTTHUMP00000161801;OTTHUMP00000221630;OTTHUMP00000221631;OTTHUMP00000221633;transmembrane protein C5orf28 protein-coding ENSG00000151881 HGNC:26139 07965 VALIDATED 1606695 C5orf38 chromosome 5 open reading frame 38 FOUND IN extracellular region (inferred) 5 5 5 p15.33 2784111 2787360 + 2752058 2755511 + 2751944 2755397 + 12477932;16515847;16750006 153571 B7ZL86;D6RBL9;Q86SI9 ABBA01010210;ABBA01010211;AC091891;AMYH02010780;AY249324;AY249325;BC101608;BC101634;BC143638;BC143639;BC143640;BC171731;BX090247;CH471102;NM_001294337;NM_178569;NR_122125;NR_122126;XM_005248256;XM_005248257 AAI01609;AAI01635;AAI43640;AAP15241;AAP15242;EAX08134;EAX08135;NP_001281266;NP_848664;Q86SI9;XP_005248313;XP_005248314 Hs.668017 CEI;IRX2NB;MGC126657;MGC126683 IRX2 neighbor;OTTHUMP00000220678;OTTHUMP00000220682;OTTHUMP00000220683;OTTHUMP00000228970;coordinated expression to IRX2;coordinated expression to IRXA2 homeobox;coordinated expression to IRXA2 protein protein-coding ENSG00000186493 HGNC:24226 16706 610522 VALIDATED 1606513 C5orf42 chromosome 5 open reading frame 42 The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012] 5 5 5 p13.2 36993297 37136467 - 37079423 37249530 - 37067870 37249428 - 6480464;8699517;7240710;8554872 10737800;12477932;14702039;15372022;17549794;20301500;20301743;20936779;21145461;21987572;22264561;22425360;23169490;24178751 65250 H0Y9I8;H0YA77;Q9H799;R4GNH6 ABBA01024176;ABBA01024177;ABBA01024178;AC008902;AC008925;AC025449;AK023293;AK024779;AK026735;AK055192;AK096581;AL832176;AL833065;AMYH02011173;AW996738;BC028410;BC074774;BC144069;BC144070;BC144072;BC150594;BX647602;BX649121;DB448866;DN831769;DW009792;DW009948;DW009949;DW009996;DW009997;DY655086;EG327639;KF457889;NG_032772;NM_023073;XM_005248345;XM_005248346;XM_005248347;XM_005248349;XM_005248350;XM_005248353;XM_006714489;XM_006714490;XM_006714491;XR_241711;XR_427661 AAH28410;AAH74774;AAI44070;AAI50595;BAB14513;BAB14999;BAB15539;BAC04822;NP_075561;Q9H799;XP_005248402;XP_005248403;XP_005248404;XP_005248406;XP_005248407;XP_005248410;XP_006714552;XP_006714553;XP_006714554 Hs.586199 1660980;1670997;2130082;2155116;5014762 D5S2523;D5S2547;RH11888;RH36352;STS-W92787 DKFZp686K02105;FLJ13231;FLJ21126;JBTS17 OTTHUMP00000218308;OTTHUMP00000218309;OTTHUMP00000218310;Transmembrane protein ENSP00000382582;hypothetical protein LOC65250;uncharacterized protein C5orf42 APPROVED protein-coding ENSG00000197603 HGNC:25801 07822 614571;614615 REVIEWED 2298818 C5orf47 chromosome 5 open reading frame 47 INTERACTS WITH trichostatin A; cadmium dichloride (ortholog) 5 5 5 q35.2 169448431 169465412 + 173416162 173433143 + 173989159 174026957 + 6480464 12477932 133491 Q569G3 ABBA01044015;AC093275;AC113423;AMYH02012786;BC034971;BC047225;BC053953;BC057842;BC066964;BC092489;BC121167;BC121168;CH471062;DB443869;NM_001144954;XM_006714819;XM_006714820 AAH34971;AAH92489;EAW61388;NP_001138426;Q569G3;XP_006714882;XP_006714883 Hs.131469 OTTHUMP00000223699;hypothetical protein LOC133491;uncharacterized protein C5orf47 protein-coding ENSG00000185056 HGNC:27026 VALIDATED 1606005 C5orf45 chromosome 5 open reading frame 45 INTERACTS WITH all-trans-retinoic acid; calcitriol; cobalt dichloride 5 5 5 q35.3 174889422 174910994 - 179263927 179285867 - 179837266 179858840 - 6480464 11076863;11230166;12477932;14702039;15146197;15489336;16381901;17207965;18976975;24250222 51149 B7Z1T6;E5RGF8;E5RHV0;E5RHY8;E5RI52;E5RIC8;E5RIJ7;E5RJC6;E5RK98;E7EMV9;F6UWW1;F6XPR0;Q6NTE8 ABBA01010044;ABBA01010045;ABBA01010046;ABBA01010047;AC008393;AF153685;AK293901;AK298954;AMYH02012894;AMYH02012895;AMYH02012896;BC002739;BC050714;BC056889;BC069051;BF965313;BQ642639;BX537968;BX647375;CH471165;CN363239;CR936785;NM_001017987;NM_016175 AAD51611;AAH02739;AAH69051;ADQ32062;BAH11622;BAH12911;CAD97932;CAL37424;CAL38467;EAW53784;EAW53785;NP_001017987;NP_057259;Q6NTE8 Hs.741169 1740517;1740867;1776934;1856023;2108523;2120717;2130122;2154130;2162845;5015861;5020274;5020948;5021228;5022200;5022425;5037552;5037670;5112017;7185938 A002O27;A008T21;D10S16;D11S4452;D22S296;D3S4354;D5S2306E;D8S2279;G35510;G44365;GDB:312794;L18426;L18441;RH18060;RH70719;SHGC-33017;SQSTM1_8870;WI-22658 DKFZp686L2452;MGC65027;MGC78537 OTTHUMP00000224084;OTTHUMP00000224353;OTTHUMP00000224355;OTTHUMP00000224356;OTTHUMP00000224357;UPF0544 protein C5orf45;hypothetical protein LOC51149 protein-coding ENSG00000161010 HGNC:30817 17420 VALIDATED 1605197 C5orf46 chromosome 5 open reading frame 46 FOUND IN extracellular vesicular exosome; INTERACTS WITH disodium selenite 5 5 5 q32 143353069 143366899 - 147269579 147286101 - 147890016 147906538 - 6480464 12477932;12975309;19199708 389336 Q6UWT4 ABBA01026321;AC011352;AK289403;AMYH02012428;AY358656;BC021680;NM_206966;XM_005268446 AAH21680;AAQ89019;ADZ16057;BAF82092;NP_996849;Q6UWT4;XP_005268503 Hs.660038 1653205 L28266 MGC23985;SSSP1 OTTHUMP00000223878;hypothetical protein LOC389336;skin and saliva secreted protein 1;uncharacterized protein C5orf46 protein-coding ENSG00000178776 HGNC:33768 14491 VALIDATED 2306473 C5orf55 chromosome 5 open reading frame 55 FOUND IN extracellular region (inferred); INTERACTS WITH valproic acid 5 5 5 p15.33 539762 541405 - 441613 443258 - 441498 443143 - 6480464 12477932;16189514 116349 Q8N2X6 ABBA01034257;AC010442;AMYH02010752;BC014011;BC029796;NM_138464 AAH14011;AAH29796;NP_612473;Q8N2X6 Hs.446702 5014051 D8S2278 OTTHUMP00000221641;hypothetical protein LOC116349;uncharacterized protein C5orf55 protein-coding ENSG00000221990 HGNC:25175 VALIDATED 2298811 C5orf49 chromosome 5 open reading frame 49 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 5 5 5 p15.31 7872579 7892308 - 7830491 7851603 - 7830378 7851490 - 8554872 12477932;20379614 134121 A4QMS7;D6RHK3 ABBA01020576;AC010346;AMYH02010823;BC053548;BC062569;BC104204;BC104205;BC115361;CH471102;NM_001089584 A4QMS7;AAI04206;AAI15362;EAX08096;NP_001083053 Hs.709979 1675672 RH99110 OTTHUMP00000220815;OTTHUMP00000220816;hypothetical protein LOC134121;uncharacterized protein C5orf49 protein-coding ENSG00000215217 HGNC:27028 VALIDATED 1605775 C5orf56 chromosome 5 open reading frame 56 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH crotonaldehyde 5 5 5 q31.1 127876758 127928158 + 131746465 131811736 + 132410773 132476044 + 8554872;6480464 12477932;14702039;18587394;19760754;20031576;20031577;20570966;20886065;21102463;22561531;23128233;23969696 441108 A6NHD6;B5MCK2;Q8N8D9 ABBA01068805;ABBA01068806;ABBA01068807;AC116366;AI377899;AK025221;AK096941;AK128882;AK129632;AK309191;AMYH02012215;BC130299;BC130656;BM998490;CH471062;CS072460;DC350817;DN991436;NR_045116 AAI30300;AAI30657;ADR83475;BAC04907;CAI93598;EAW62333;EAW62334;EAW62335;EAW62336;Q8N8D9 Hs.658288 1669682;1773548;1785420;1791554;1792798;1803044;1803114;1803452;1805262;1806444;1807810;1807944;1810180;1810464;1810466;1811368;1811688;1812078;1812560;1814178;1815312;1815680;1816614;1817912;1818420;1820652;1822512;1824624;1825426;1825656;1826492;1827296;1827860;1827960;1829820;1830176;1831418;1831730;1834440;1834774;1835728;1835926;1837184;1837290;1837860;1838414;1839068;1840942;1841188;1843886;1846278;1847177;1998426;1998428;1998430;1998432;1998434;1998436;1998438;1998440;1998442;1998444;1998446;1998448;1998450;1998452;1998454;1998456;1998458;1998460;1998462;1998464;1998466;1998468;1998470;1998472;1998474;1998476;1998478;1998480;1998482;1998484;1998486;1998488;1998490;1998492;1998494;1998496;1998498;1998500;1998502;1998504;1998506;1998508;1998510;1998512;1998514;1998516;1998518;1998520;1998522;1998524;1998526;1998528;1998530;1998532;1998534;1998536;1998538;1998540;1998542;1998544;1998546;1998548;1998550;1998552;1998554;1998556;1998558;1998560;1998562;1998564;1998566;1998568;1998570;1998572;1998574;1998576;1998578;1998580;1998582;1998584;1998586;1998588;1998590;1998592;1998594;1998596;1998598;1998600;1998602;1998604;1998606;1998608;1998610;1998612;1998614;1998616;1998618;1998620;1998622;1998624;1998626;1998628;1998630;1998632;1998634;1998636;1998638;1998640;1998642;1998644;1998646;1998648;1998650;1998652;1998654;1998656;1998658;1998660;1998662;1998664;1998666;1998668;1998670;1998672;1998674;1998676;1998678;1998680;1998682;1998684;1998686;1998688;1998690;1998692;1998694;1998696;1998698;1998700;1998702;1998704;1998706;1998708;1998710;1998712;1998714;1998716;1998718;1998720;1998722;1998724;1998726;1998728;1998730;1998732;1998734;1998736;1998740;1998742;1998744;1998746;1998748;1998750;1998752;1998754;1998756;1998758;1998760;1998762;1998764;1998766;1998768;1998770;1998772;1998774;1998776;1998778;1998780;1998782;1998784;1998786;1998788;1998790;1998792;1998794;1998796;1998798;1998800;1998802;1998804;1998806;1998808;1998810;1998812;1998814;1998816;1998818;1998820;1998822;1998824;1998826;1998828;1998830;1998832;1998834;1998836;1998838;1998840;1998842;1998844;1998846;1998848;1998850;1998852;1998854;1998856;1998858;1998860;1998862;1998864;1998866;1998868;1998870;1998872;1998874;1998876;1998878;1998880;1998882;1998884;1998886;1998888;1998890;1998892;1998960;1998962;1998964;1998966;1998968;1998970;1998972;1998974;1998976;1998978;1999088;1999090;2095974;2095976;2095978;2095980;2095982;2095984;2095986;2095988;2095990;2095992;2095994;2095996;2095998;2096000;2096002;2096004;2096006;2096008;2096010;2096012;2096014;2096016;2096018;2096020;2096022;2096024;2096026;2096028;2096030;2096032;2096034;2096036;2096038;2096040;2096042;2096044;2096046;2096048;2096050;2096052;2096054;2096056;2096058;2096074 ECD02413;ECD02448;ECD02623;ECD03576;ECD04178;ECD04880;ECD04947;ECD06082;ECD06225;ECD06226;ECD06682;ECD06848;ECD07044;ECD07290;ECD08118;ECD08692;ECD08878;ECD09349;ECD10010;ECD10268;ECD11401;ECD12344;ECD13410;ECD13820;ECD13936;ECD14360;ECD14763;ECD15053;ECD15103;ECD16043;ECD16221;ECD16845;ECD17002;ECD18368;ECD18535;ECD19021;ECD19124;ECD19758;ECD19812;ECD20100;ECD20381;ECD20713;ECD21664;ECD21789;ECD23154;ECD24359;L28348;PMC115182P1;PMC164606P14;REN70125;REN70126;REN70127;REN70128;REN70129;REN70130;REN70131;REN70132;REN70133;REN70134;REN70135;REN70136;REN70137;REN70138;REN70139;REN70140;REN70141;REN70142;REN70143;REN70144;REN70145;REN70146;REN70147;REN70148;REN70149;REN70150;REN70151;REN70152;REN70153;REN70154;REN70155;REN70156;REN70157;REN70158;REN70159;REN70160;REN70161;REN70162;REN70163;REN70164;REN70165;REN70166;REN70167;REN70168;REN70169;REN70170;REN70171;REN70172;REN70173;REN70174;REN70175;REN70176;REN70177;REN70178;REN70179;REN70180;REN70181;REN70182;REN70183;REN70184;REN70185;REN70186;REN70187;REN70188;REN70189;REN70190;REN70191;REN70192;REN70193;REN70194;REN70195;REN70196;REN70197;REN70198;REN70199;REN70200;REN70201;REN70202;REN70203;REN70204;REN70205;REN70206;REN70207;REN70208;REN70209;REN70210;REN70211;REN70212;REN70213;REN70214;REN70215;REN70216;REN70217;REN70218;REN70219;REN70220;REN70221;REN70222;REN70223;REN70224;REN70225;REN70226;REN70227;REN70228;REN70229;REN70230;REN70231;REN70232;REN70233;REN70234;REN70235;REN70236;REN70237;REN70238;REN70239;REN70240;REN70241;REN70242;REN70243;REN70244;REN70245;REN70246;REN70247;REN70248;REN70249;REN70250;REN70251;REN70252;REN70253;REN70254;REN70255;REN70256;REN70257;REN70258;REN70259;REN70260;REN70261;REN70262;REN70263;REN70264;REN70265;REN70266;REN70267;REN70268;REN70269;REN70270;REN70271;REN70272;REN70273;REN70274;REN70275;REN70276;REN70277;REN70278;REN70279;REN70280;REN70282;REN70283;REN70284;REN70285;REN70286;REN70287;REN70288;REN70289;REN70290;REN70291;REN70292;REN70293;REN70294;REN70295;REN70296;REN70297;REN70298;REN70299;REN70300;REN70301;REN70302;REN70303;REN70304;REN70305;REN70306;REN70307;REN70308;REN70309;REN70310;REN70311;REN70312;REN70313;REN70314;REN70315;REN70316;REN70317;REN70318;REN70319;REN70320;REN70321;REN70322;REN70323;REN70324;REN70325;REN70326;REN70327;REN70328;REN70329;REN70330;REN70331;REN70332;REN70333;REN70334;REN70335;REN70336;REN70337;REN70338;REN70339;REN70340;REN70341;REN70342;REN70343;REN70344;REN70345;REN70346;REN70347;REN70348;REN70349;REN70350;REN70351;REN70352;REN70353;REN70354;REN70355;REN70356;REN70357;REN70358;REN70392;REN70393;REN70394;REN70395;REN70396;REN70397;REN70398;REN70399;REN70400;REN70401;REN70456;REN70457;RH47939;RH70122;SHGC-144724;stSG601254;stSG601255;stSG601256;stSG601257;stSG601258;stSG601259;stSG601260;stSG601261;stSG601262;stSG601263;stSG601264;stSG601265;stSG601266;stSG601267;stSG601268;stSG601269;stSG601270;stSG601271;stSG601272;stSG601274;stSG601275;stSG601276;stSG601277;stSG601278;stSG601279;stSG601280;stSG601281;stSG601282;stSG601283;stSG601284;stSG601285;stSG601286;stSG601287;stSG601288;stSG601289;stSG601290;stSG601291;stSG601292;stSG601293;stSG601294;stSG601295;stSG601296;stSG601297;stSG601305 FLJ21568;FLJ26121 OTTHUMP00000065826;OTTHUMP00000065827;OTTHUMP00000065828;hypothetical protein LOC441108 ncrna ENSG00000197536 HGNC:33838 18460 VALIDATED 3403707 C5orf58 chromosome 5 open reading frame 58 INTERACTS WITH lead(0); lead(2+) 5 5 5 q35.1 165691873 165705161 + 169659916 169673235 + 170232912 170246231 + 6480464 12477932 133874 C9J3I9;G3V135 ABBA01044101;AC008660;AC034199;AMYH02012715;BC030767;BC092511;BX100176;CH471062;KF458057;NM_001102609;XM_005265817 C9J3I9;EAW61482;NP_001096079;XP_005265874 Hs.519749 1654229 RH70635 MGC42229 OTTHUMP00000223182;putative uncharacterized protein C5orf58 protein-coding ENSG00000234511 HGNC:37272 PREDICTED 1604480 C5orf64 chromosome 5 open reading frame 64 FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin 5 5 5 q12.1 57929772 57998497 + 60933636 61002362 + 61637809 61706535 + 12477932;14702039;22832961 285668 Q2M2E5 ABBA01048371;AC026746;AC094086;AK094862;AK127800;AMYH02011382;AMYH02011383;BC111982;BC112008;CH471137;NM_173667 AAI11983;AAI12009;BAC04439;EAW51393;NP_775938;Q2M2E5 Hs.683866 1341609;1681885;1709964;1761023;5015619;5037552 D11S3114;D5S1990;D8S2279;RH92005;SHGC-144986;SHGC-82250 FLJ37543;FLJ45901;MGC138187;MGC138213 OTTHUMP00000221970;hypothetical protein LOC285668;uncharacterized protein C5orf64 APPROVED protein-coding HGNC:26744 09962 VALIDATED 7407245 C5orf66 chromosome 5 open reading frame 66 5 5 134368970 134680370 + 135033280 135344680 + 18391951;21297633;21502085;22658931;23128233;23251661;23263487 100996485 G3V5W9;Q9H5L9 ABBA01068727;ABBA01068728;ABBA01068729;ABBA01068730;AC008406;AC010238;AC026691;AK026965;AMYH02012253;AMYH02012254;AMYH02012255;KC877133;LN608063;LN608065;NM_001277348 BAB15606;NP_001264277;Q9H5L9 putative uncharacterized protein C5orf66;uncharacterized protein LOC100996485 protein-coding ENSG00000224186 HGNC:48332 VALIDATED 1604481 C5orf51 chromosome 5 open reading frame 51 INTERACTS WITH diuron (ortholog) 5 5 5 p13.1 41792762 41810031 + 41904423 41921738 + 41904323 41921636 + 6480464 12477932;14702039;15372022;15489334;19322201;21139048;21890473;22505724 285636 A6NDU8;Q6AW98 ABBA01024237;AC034222;AK094002;AL833916;AMYH02011221;BC131721;BF439305;CH471119;NM_175921;XM_005248289;XM_006714471 A6NDU8;AAI31722;EAW56016;EAW56017;NP_787117;XP_005248346;XP_006714534 Hs.29899 1677220 RH98965 OTTHUMP00000221208;UPF0600 protein;UPF0600 protein C5orf51;hypothetical protein LOC285636 protein-coding ENSG00000205765 HGNC:27750 11258 VALIDATED 2303474 C5orf52 chromosome 5 open reading frame 52 5 5 5 q33.3 153125154 153133754 + 157098561 157107162 + 157671553 157680154 + 15372022;15489334 100190949 A6NGY3 ABBA01044264;AC008694;AI187821;AMYH02012554;BG721329;CH471062;NM_001145132 A6NGY3;EAW61592;NP_001138604 Hs.720862 1659144 RH65319 OTTHUMP00000205880;hypothetical protein LOC100190949;uncharacterized protein C5orf52 protein-coding ENSG00000187658 HGNC:35121 VALIDATED 8179407 C5orf66-AS2 C5orf66 antisense RNA 2 5 5 q31.2 134571924 134583867 - 135236234 135248177 - 12477932;19240791;23251661 340073 AA469978;ABBA01068727;ABBA01068728;AC010238;AMYH02012255;BC045187;HG498503;NR_037895 Hs.434422 ncrna ENSG00000249647 HGNC:27964 VALIDATED 1350608 C5orf9 chromosome 5 open reading frame 9 q31 415118 AI808255 Hs.124611 protein-coding HGNC:17924 5132119 C5orf63 chromosome 5 open reading frame 63 INVOLVED IN oxidation-reduction process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH lead(0); lead(2+); valproic acid 5 5 5 q23.2 122507919 122538849 - 126378250 126409184 - 127042558 127073492 - 6480464 16344560 401207 A6NC05;U3KPR6;U3KQ05;U3KQB8;U3KQR4 ABBA01068884;AC004507;AC005915;AK126569;AMYH02012159;BQ269742;CH471062;DA507232;NM_001164478;NM_001164479 A6NC05;EAW62410;EAW62411;NP_001157950;NP_001157951 Hs.49573 1682015;1719097;2148124;2152932 RH123266;RH65981;RH93386;SGC32884 FLJ44606;YDR286C glutaredoxin-like protein C5orf63;glutaredoxin-like protein YDR286C homolog protein-coding ENSG00000164241 HGNC:40051 VALIDATED 8169851 C5orf66-AS1 C5orf66 antisense RNA 1 5 5 q31.1 134374521 134375790 - 135038831 135040047 - 16368877 101927953 ABBA01068729;AC008406;AI459244;AMYH02012253;BE785577;BY798674;NR_105049;NR_105050 Hs.436898 CTC-276P9.1 ncrna ENSG00000249082 HGNC:49679 VALIDATED 3104049 C5orf60 chromosome 5 open reading frame 60 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methoxyethanol (ortholog) 5 5 5 q35.3 174576673 174701572 + 179068545 179072083 - 179641544 179645082 - 6480464 12477932;14702039;15372022;15489334 285679 A6NFR6;H0Y8N9 ABBA01010029;AC136604;AK093042;AMYH02012883;BC040992;BC043435;BC130442;BC130444;BC144274;BC144275;HC007094;NM_001142306;XM_006714856;XM_006714857;XR_427803 A6NFR6;AAI30443;AAI30445;AAI44275;AAI44276;CBH19352;NP_001135778;Q8NA96;XP_006714919;XP_006714920 Hs.558748 1650586;1654186;1660625;1676656;1677012;1677116;1683156;1694678;1700336;1719077;1797694;2130779;2140472 D5S1862;G16980;G43520;HNRPH1_2339;RH103788;RH123255;RH69028;RH77877;RH78175;RH79987;RH99066;RH99206;SHGC-13723 FLJ35723 OTTHUMP00000223358;OTTHUMP00000223359;putative uncharacterized protein C5orf60;putative uncharacterized protein FLJ35723 protein-coding ENSG00000204661 HGNC:27753 PREDICTED 1347646 C6orf114 chromosome 6 open reading frame 114 6 6 p23 14702736 14719620 - 13469509 13486415 - 12477932;14574404;15489334 85411 AF264036;AL583828;BC009205;BC066553;CH471087;NM_033069 AAH66553;AAK58533;CAI14821;EAW55330;NP_149060;Q96JD4 Hs.674313 ADG-90;FLJ20330;RP11-501I19.1 OTTHUMP00000016049;hypothetical protein LOC85411 protein-coding HGNC:21229 12841 MODEL 1601978 C6orf106 chromosome 6 open reading frame 106 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; afimoxifene; all-trans-retinoic acid 6 6 6 p21.31 36109394 36219085 - 34555065 34664625 - 34587280 34696850 - 6480464;8554872 12477932;14574404;14702039;15489334;18003597;18391952;18793612;19059477;19266077;19322201;19343178;20546612;20686565;20846217;21139048;21832049;21890473;21906983;21963094;21987572;21988832;22053931;22505724;23000965;23449627;23563607;23940030;24097068;24324551;8619474;9110174 64771 Q5TH58;Q9H6K1 ABBA01038192;ABBA01038193;ABBA01038194;ABBA01038195;ABBA01038196;ABBA01038197;AF052106;AF370387;AI469525;AK025848;AK056964;AK313410;AL031577;AL451165;AMYH02013521;AMYH02013522;AMYH02013523;AMYH02013524;BC002328;BC010143;BC010184;BC013241;BC071885;BC075810;BC107732;BE898102;CH471081;KF458147;NM_022758;NM_024294;XM_005249298 AAH02328;AAH10184;AAH75810;AAQ15223;BAB15258;BAB71327;BAG36204;EAX03790;EAX03791;EAX03792;NP_073595;NP_077270;Q9H6K1;XP_005249355 Hs.643498;Hs.716193 1654832;2124337;2144210;2157578 D6S1136E;RH16573;RH65367;WI-21948 FLJ22195;FLJ32402;FP852;MGC4614;RP3-391O22.4;dJ391O22.4 OTTHUMP00000016235;OTTHUMP00000016236;OTTHUMP00000016237;uncharacterized protein C6orf106 protein-coding ENSG00000196821 HGNC:21215 12837 612217 VALIDATED 1605841 C6orf1 chromosome 6 open reading frame 1 FOUND IN extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; cyclosporin A 6 6 6 p21.31 35768530 35771279 - 34214157 34216904 - 34246380 34249108 - 6480464 10036196;12477932;15489334;18187620;19893584;19913121;20379614;20628086;21998595;24324551;8889549 221491 G8JLJ3;Q86T20 AA043491;AA779779;ABBA01038180;AK290164;AL354740;AMYH02013510;AY062936;BC009526;BC023627;BC047919;BM474526;BU194178;BU956518;CF456665;CH471081;CK001844;NM_001008703;NM_001008704;NM_001287396;NM_001287397;NM_001287398;NM_178508;XM_005248923 AAH23627;AAH47919;BAF82853;EAX03775;EAX03776;EAX03777;EAX03778;NP_001008703;NP_001008704;NP_001274325;NP_001274326;NP_001274327;NP_848603;Q86T20;XP_005248980 Hs.381300 1677856;2189327 MARC_1047-1048:991929773:1;RH94282 LBH;MGC57858 OTTHUMP00000216380;OTTHUMP00000216551;OTTHUMP00000216552;OTTHUMP00000216553;hypothetical protein LOC221491;uncharacterized protein C6orf1 protein-coding ENSG00000186577 HGNC:1340 12834 611419 VALIDATED 1345988 C6orf131 chromosome 6 open reading frame 131 387091 HGNC:21287 1349789 C6orf118 chromosome 6 open reading frame 118 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH calcitriol 6 6 6 q27 166431264 166461218 - 165693153 165723111 - 165264599 165309622 - 6480464;8554872 12477932;14574404;15489334;21832049;22589738;8889548 168090 Q5T5N4 ABBA01015091;AI333765;AK302358;AL117345;AL356125;AMYH02014951;BC026278;BM968092;CH471051;DB454755;NM_144980;XM_005266838;XM_006715352;XM_006715353;XR_427964 AAH26278;BAH13683;EAW47548;EAW47549;NP_659417;Q5T5N4;XP_005266895;XP_006715415;XP_006715416 Hs.144734 MGC23884;bA85G2.1;dJ416F21.2 OTTHUMP00000017584;dJ416F21.2 (novel protein);hypothetical protein LOC168090;uncharacterized protein C6orf118 protein-coding ENSG00000112539 HGNC:21233 12844 VALIDATED 1354360 C6orf132 chromosome 6 open reading frame 132 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; hydralazine; silicon dioxide 6 6 6 p21.1 43621313 43663175 - 42068857 42110715 - 42101119 42142977 - 6480464;8554872 24529757 647024 Q5T0Z8 ABBA01050734;ABBA01050735;ABBA01050736;AK074567;AL096814;AL512274;AMYH02013616;AMYH02013617;KF458155;KF458156;NM_001164446 NP_001157918;Q5T0Z8 Hs.444277 1758385;5015961 D15S1477;SHGC-148209 FLJ90086;bA7K24.2 OTTHUMP00000016396;OTTHUMP00000223436;hypothetical protein LOC647024;uncharacterized protein C6orf132 protein-coding ENSG00000188112 HGNC:21288 PREDICTED 1352972 C6 complement component 6 This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012] 5 5 5 p13 41030916 41150111 - 41142248 41261588 - 41142146 41261486 - 1600672;1600673;625607;1600675;1600489;1600682;1600670;1580863;6480464;6907045;7240710;8554872;8699517 10807586;11912252;11970970;15351314;15638131;17034580;2672823 10551839;12477932;1387399;14757862;15489334;15845028;16169070;16335952;16344560;1672663;17257682;17474147;18842294;19162005;19344414;19423540;19665237;19864026;19913121;20237496;20406964;20438785;20459687;20628086;21704099;21988832;22267737;22288589;22500023;23149075;23750785;2468158;2789218;2808363;3052276;3192535;3764345;8101442;8364540;8512929;8805625;9366265;9472666;9856498 729 C9JC72;C9JX36;P13671 AB126592;ABBA01024229;ABBA01024230;ABBA01024231;AC008863;AC091871;AK292509;AK313673;AMYH02011219;BC035723;BJ993387;CH471119;DB066614;DB184605;J04506;J05024;J05064;NG_011582;NM_000065;NM_001115131;X72177;XM_005248356;XM_005248357;XM_006714496;XM_006714497 AAA51860;AAA59668;AAB59433;AAH35723;ABM82183;ABM85369;BAD02321;BAF85198;CAA50994;EAW56012;EAW56013;NP_000056;NP_001108603;P13671;XP_005248413;XP_005248414;XP_006714559;XP_006714560 Hs.481992 1655871;1695680;1717965;1743587;1785282;2177204;2217092;5491856 C6;C6_2629;D5S2425;GDB:352711;RH122809;SHGC-106966;SHGC-78720;STS-X72177 OTTHUMP00000120010;OTTHUMP00000197101;complement component C6 APPROVED protein-coding ENSG00000039537 HGNC:1339 01956 217050;612446 REVIEWED 1348768 C6orf120 chromosome 6 open reading frame 120 INVOLVED IN apoptotic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH valproic acid 6 6 6 q27 170812442 170816587 + 170102238 170106402 + 169702161 169706306 + 6480464 12477932;21980299;22340178;8619474;8908511;9110174 387263 Q7Z4R8 ABBA01016118;AF055030;AF451991;AK295061;AK295962;AL513547;AMYH02015002;BC051700;CH471051;NM_001029863 AAH51700;AAP97690;BAG58110;BAG58741;EAW47445;EAW47446;NP_001025034;Q7Z4R8 Hs.591375;Hs.694601 1769969;2138236;2151082 D6S1237E;D6S1902;RH36593 bA160E12.4 OTTHUMP00000017670;UPF0669 protein C6orf120;hypothetical protein LOC387263 protein-coding HGNC:21247 PROVISIONAL 1348259 C6orf136 chromosome 6 open reading frame 136 FOUND IN mitochondrion (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; paracetamol 6 6 6 p21.33 32212933 32219096 + 30614816 30620987 + 30647039 30653210 + 6480464 12477932;14574404;14702039;15342556;15489334;16344560;17207965;21900206;22461910;24250222;8889548 221545 F8WBB4;F8WC77;F8WEV2;H7C4U4;H7C4Z6;H7C5B5;H7C5D3;Q0P5T2;Q5SQH8 ABBA01038051;ABBA01038052;AI536982;AK127564;AL662798;AL662800;AL732442;AL845353;AMYH02013437;BC016167;BC064397;BC073975;BM695485;BP255323;BQ022831;BX119957;BX908728;CH471081;CR753328;CR759778;DA200997;NM_001109938;NM_001161376;NM_145029 AAH16167;AAH64397;ADQ32157;BAC87037;EAX03310;EAX03311;NP_001103408;NP_001154848;NP_659466;Q5SQH8 Hs.591787 1685379;1739677;2156323;2189613;5116997 C4_2_24;D6S1533E;HL002;RH98618;STS-N98554 MGC15854 OTTHUMP00000029326;OTTHUMP00000029327;OTTHUMP00000029329;OTTHUMP00000214979;hypothetical protein LOC221545;uncharacterized protein C6orf136 protein-coding ENSG00000204564 HGNC:21301 12851 VALIDATED 1350222 C6orf144 chromosome 6 open reading frame 144 387096 HGNC:21358 1348540 C6orf15 chromosome 6 open reading frame 15 ENCODES a protein that exhibits collagen V binding (inferred); fibronectin binding (inferred); heparin binding (inferred); INVOLVED IN extracellular matrix organization (inferred); FOUND IN interstitial matrix (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; paracetamol 6 6 6 p21.3 32679218 32680550 - 31079000 31080332 - 31111223 31112555 - 6480464 10545595;11178745;12975309;14574404;15217361;15466855;18029348;19620980;19851445;20639881;21738480;21841780;22493691;23263863;23326239 29113 M1T2K5;Q6UXA7 AB031481;AB088114;AB202103;ABBA01038068;AL662844;AL662867;AL773544;AMYH02013443;AY358438;BX927139;CH471081;CR753819;CR759805;NG_021348;NM_014070 AAI46375;AAI53158;AAQ88804;BAA88132;BAC54947;BAE78624;EAX03356;NP_054789;Q6UXA7 Hs.272214 5493185 UniSTS:484638 STG OTTHUMP00000029146;taste bud-specific protein;uncharacterized protein C6orf15 protein-coding ENSG00000204542 HGNC:13927 12856 611401 VALIDATED 1346663 C6orf10 chromosome 6 open reading frame 10 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 6 6 6 p21.3 33827603 33906430 - 32260475 32339705 - 32292698 32371929 - 6480464;8554872 10803852;12477932;12509440;14574404;15489334;18445777;18576341;18941528;19116923;19143821;19460752;19680446;19851445;20200978;20453842;20549515;20587610;20595679;20639878;20662065;21326295;21408207;21505073;21779181;21804548;21900946;22457343;22589738;22703881;22751097;23042114;23251661;23321320;23535732;23870195;23918589;24282030;24292274;24449572;8125298 10665 B4DXY0;C9J9T8;E9PLW3;E9PNQ4;E9PQ85;F8VVU2;Q13647;Q5SRN2 ABBA01038109;ABBA01038110;AK225742;AK302176;AK310230;AL034394;AL035445;AL662796;AL670296;AL671511;AL845509;AL845557;AMYH02013469;AMYH02013470;AMYH02013471;BC034774;BX001039;BX113229;BX119999;BX255945;BX284927;BX908732;BX927180;BX927239;CH471081;CR751604;CR752644;CR753609;CR759737;CR759773;CR759917;CT009614;DC399589;NM_001286474;NM_001286475;NM_006781;U60665;XM_005248810;XM_005274912;XM_005275078;XM_005275342;XM_006714958;XM_006714959;XM_006714960;XM_006714961;XM_006714962;XM_006714963;XM_006714964;XM_006714965;XM_006725466;XM_006725673;XM_006725674;XM_006725675;XM_006725676;XM_006725677;XM_006725678;XM_006725679;XM_006725680;XM_006725681;XM_006725795;XM_006725796;XM_006725797;XM_006725798;XM_006725799;XM_006725800;XM_006725801;XM_006725802;XM_006725803;XM_006725972;XM_006725973;XM_006725974;XM_006725975;XM_006725976;XM_006725977;XM_006725978;XM_006725979;XM_006725980;XM_006726073 AAB02975;AAH34774;BAG63542;CAI20345;CAI20346;CAI42178;CAI42179;EAX03624;EAX03625;NP_001273403;NP_001273404;NP_006772;Q5SRN2;XP_005248867;XP_005274969;XP_005275135;XP_005275399;XP_006715021;XP_006715022;XP_006715023;XP_006715024;XP_006715025;XP_006715026;XP_006715027;XP_006715028;XP_006725529;XP_006725736;XP_006725737;XP_006725738;XP_006725739;XP_006725740;XP_006725741;XP_006725742;XP_006725743;XP_006725744;XP_006725858;XP_006725859;XP_006725860;XP_006725861;XP_006725862;XP_006725863;XP_006725864;XP_006725865;XP_006725866;XP_006726035;XP_006726036;XP_006726037;XP_006726038;XP_006726039;XP_006726040;XP_006726041;XP_006726042;XP_006726043;XP_006726136 Hs.567414 1681203;1697158;1786154;2106255;2106257;2106259;2106261;2106263;2106265;2106267;2106269;2106271;2106273;2106275;2106277;2189725;2189727;2220328 13-36829;D6S2732;D6S2734;D6S2744;D6S2886;D6S2887;D6S2888;D6S2889;D6S2890;D6S2891;D6S2892;D6S2913;D6S2914;M2_2_46;M2_2_48;RH102067;RH80842;SHGC-79455 TSBP OTTHUMP00000029142;OTTHUMP00000029143;OTTHUMP00000229345;OTTHUMP00000229346;OTTHUMP00000229347;testis specific basic protein;uncharacterized protein C6orf10 protein-coding ENSG00000204296 HGNC:13922 09851 VALIDATED 1351982 C6orf177 chromosome 6 open reading frame 177 387105 H7C4Q1 HGNC:21537 1350837 C6orf164 chromosome 6 open reading frame 164 6 6 6 q15-q16.1 88525506 88528123 + 88106842 88109459 + 87397124 87399741 + 12477932;14702039 63914 Q5TEZ4 ABBA01040493;ABBA01040494;AK021476;AL096817;AMYH02014053;NR_026784 Q5TEZ4 Hs.645177 dJ102H19.4 ncrna ENSG00000226524 HGNC:21404 VALIDATED 1346584 C6orf179 chromosome 6 open reading frame 179 387109 AL365217 CAI16604 bA74E24.1 protein-coding HGNC:21547 1349161 C6orf178 chromosome 6 open reading frame 178 387108 HGNC:21546 1348040 C6orf180 chromosome 6 open reading frame 180 387110 HGNC:21548 1604202 C6orf163 chromosome 6 open reading frame 163 INTERACTS WITH trichostatin A 6 6 6 q15 88473243 88493854 + 88054571 88075381 + 87344656 87365463 + 6480464 14574404;14702039 206412 E1P506;Q5TEZ5;V9GZ22 ABBA01040492;AK092941;AL096817;AMYH02014053;CH471051;NM_001010868;XM_005248673;XM_006715370;XM_006715371;XM_006715372 EAW48604;EAW48605;EAW48606;NP_001010868;Q5TEZ5;XP_005248730;XP_006715433;XP_006715434;XP_006715435 Hs.646309 2113832;5015961;5037552 AB070040;D15S1477;D8S2279 OTTHUMP00000016829;hypothetical protein LOC206412;uncharacterized protein C6orf163 protein-coding ENSG00000203872 HGNC:21403 16659 PROVISIONAL 1346500 C6orf187 chromosome 6 open reading frame 187 221299 XM_166305 HGNC:21567 1342733 C6orf141 chromosome 6 open reading frame 141 INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; all-trans-retinoic acid 6 6 6 p12.3 51074268 51075963 + 49518113 49523166 + 49550400 49555453 + 6480464 12477932;14574404;14702039;15146197;15489334 135398 H0YDR2;Q5SZD1 ABBA01050590;AK054918;AK289889;AL590244;AMYH02013710;BC036917;CH471081;CN345508;NM_001145652;XM_005248850;XM_005248851;XM_005248852;XM_005248853;XM_005248854;XM_006714997 AAH36917;BAB70828;BAF82578;EAX04335;EAX04336;NP_001139124;Q5SZD1;XP_005248907;XP_005248908;XP_005248909;XP_005248910;XP_005248911;XP_006715060 Hs.722010 5015861;5015881;7185938 D10S16;GDB:335751 MGC46457 OTTHUMP00000233263;hypothetical protein LOC135398;uncharacterized protein C6orf141 protein-coding ENSG00000197261 HGNC:21351 12852 VALIDATED 1351435 C6orf2 chromosome 6 open reading frame 2 23737 HGNC:1341 1349077 C6orf193 chromosome 6 open reading frame 193 254751 XM_173173 HGNC:19130 1349220 C6orf184 chromosome 6 open reading frame 184 q21 11181995;12477932 221261 AL359711;BC107113;BC107114;CH471051;XM_001725460;XM_168053;XM_939850 A4QMU0;AAI07114;CAI40694;EAW48357;XP_001725512;XP_168053;XP_944943 Hs.373914 bA425D10.3 protein-coding HGNC:21563 1321665 C6orf165 chromosome 6 open reading frame 165 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH melphalan; valproic acid; cadmium dichloride (ortholog) 6 6 6 q15 88536482 88592999 + 88117690 88174191 + 87407972 87464473 + 6480464;8554872 12477932;14574404;14702039;15489334;16189514;16344560;20308539;24250222 154313 D6R9L9;D6RBZ4;Q8IYR0;Q8N771 ABBA01040494;AK093830;AK098840;AL049697;AMYH02014053;AMYH02014054;BC035083;BC045171;CH471051;DB021694;DB510748;NM_001031743 AAH35083;BAC04234;BAC05430;EAW48594;EAW48596;EAW48598;NP_001026913;Q8IYR0 Hs.82921 1335002;1676638;2176039 D6S1004;RH93136;SGC34177 FLJ25974;FLJ46091;dJ382I10.1 OTTHUMP00000016831;OTTHUMP00000220982;UPF0704 protein C6orf165;hypothetical protein LOC154313 protein-coding ENSG00000213204;ENSG00000272514 HGNC:21405 12863 VALIDATED 1354465 C6orf147 chromosome 6 open reading frame 147 6 6 6 q13 74377094 74414626 - 73983862 74020088 - 73274139 73310365 - 14702039;16341674 387097 ABBA01040310;ABBA01040311;AC019205;AK090984;AMYH02013905;AMYH02013906;BM747426;NR_027005 Hs.732094 1666974;1809276;1812602;1816948;1817340;1820570;1822202;1823370;1824056;1824216;1825944;1831840;1835710;1837634;1837974;1838904;1839178;1839380;1841174;1841720;1843112;1843228;1845122;1845726;1855756;1855758;1922730;1922732;1922734;1922736;1922738;1922740;1922742;1922744;1922746;1922748;1922750;1922752;1922754;1922756;1922758;1922760;1922762;1922764;1922766;1922768;1922770;1922772;1922774;1922776;1922778;1922780;1922782;1922784;1922786;1922788;1922790;1922792;1922794;1922796;1922798;1922800;1922802;1922804;1922806;1922808;1922810;1922812;1922814;1922816;1922818;1922820;1922822;1922824;1922826;1922828;1922830;1922832;1922834;1922836;1922838;1922840;1922842;1922844;1922846;1922848;1922850;1922852;1922854;1922856;1922858;1922860;1922862;1922864;1922866;1922868;1922870;1922872;1922874;1922876;1922878;1922880;1922882;1922884;1922886;1922888;1922890;1922892;1922894;1922896;1922898;1922900;1922902;1922904;1922906;1922908;1922910;1922912;1922914;1922916;1922918;1922920;1922922;1922924;1922926;1922928;1922930;1922932;1922934;1922936;1922938;1922940;1922942;1922944;1922946;1922948;1922950;1922952;1922954;1922956;1922958;1922960;1922962;1922964;1922966;1922968;1922970;1922972;1922974;1922976;1922978;1922980;1922982;1922984;1922986;1922988;1922990;1922992;1922994;1922996;1922998;1923000;1923002;1923004;1923006;1923008;1923010;1923012;1923014;1923016;1923018;1923020;1923022;2159494;2172145;2172147;2183855;2207106;2207108;2207110;2207112;2207114;2207116;2207118;2207120;2207122;2207124;2207126;2207128;2207130;2207132;2207134;2207136;2207138;2207140;2207142;2207144;2207146;2207148;2207150;2207152;2207154;2207156;2207218;5022322;5037552 A002C29;A005C09;D11S2560;D6S1876;D8S2279;ECD05628;ECD07311;ECD09523;ECD09720;ECD11360;ECD12187;ECD12775;ECD13124;ECD13205;ECD14081;ECD17058;ECD19012;ECD19984;ECD20158;ECD20631;ECD20769;ECD20872;ECD21781;ECD22058;ECD22764;ECD22822;ECD23778;ECD24082;G19931;G20265;REN32189;REN32190;REN32191;REN32192;REN32193;REN32194;REN32195;REN32196;REN32197;REN32198;REN32199;REN32200;REN32201;REN32202;REN32203;REN32204;REN32205;REN32206;REN32207;REN32208;REN32209;REN32210;REN32211;REN32212;REN32213;REN32214;REN32215;REN32216;REN32217;REN32218;REN32219;REN32220;REN32221;REN32222;REN32223;REN32224;REN32225;REN32226;REN32227;REN32228;REN32229;REN32230;REN32231;REN32232;REN32233;REN32234;REN32235;REN32236;REN32237;REN32238;REN32239;REN32240;REN32241;REN32242;REN32243;REN32244;REN32245;REN32246;REN32247;REN32248;REN32249;REN32250;REN32251;REN32252;REN32253;REN32254;REN32255;REN32256;REN32257;REN32258;REN32259;REN32260;REN32261;REN32262;REN32263;REN32264;REN32265;REN32266;REN32267;REN32268;REN32269;REN32270;REN32271;REN32272;REN32273;REN32274;REN32275;REN32276;REN32277;REN32278;REN32279;REN32280;REN32281;REN32282;REN32283;REN32284;REN32285;REN32286;REN32287;REN32288;REN32289;REN32290;REN32291;REN32292;REN32293;REN32294;REN32295;REN32296;REN32297;REN32298;REN32299;REN32300;REN32301;REN32302;REN32303;REN32304;REN32305;REN32306;REN32307;REN32308;REN32309;REN32310;REN32311;REN32312;REN32313;REN32314;REN32315;REN32316;REN32317;REN32318;REN32319;REN32320;REN32321;REN32322;REN32323;REN32324;REN32325;REN32326;REN32327;REN32328;REN32329;REN32330;REN32331;REN32332;REN32333;REN32334;REN32335;RH44515;WI-15927;stSG625778;stSG625779;stSG625780;stSG625781;stSG625782;stSG625783;stSG625784;stSG625785;stSG625786;stSG625787;stSG625788;stSG625789;stSG625790;stSG625791;stSG625792;stSG625793;stSG625794;stSG625795;stSG625796;stSG625797;stSG625798;stSG625799;stSG625800;stSG625801;stSG625802;stSG625803;stSG625837 ncrna HGNC:21363 PREDICTED 1343649 C6orf202 chromosome 6 open reading frame 202 387115 AL136968 CAI19704;Q5TBU7 dJ182O16.3 protein-coding HGNC:21621 1350155 C6orf183 chromosome 6 open reading frame 183 6 q21 109505723 109551438 + 11181995;14574404;14702039 389422 Q5T699 AL355305;AL359712;CH471051;XM_003403515;XM_003403796;XM_003960372 EAW48358;EAW48359;EAW48360;Q5T699;XP_003403563;XP_003403844;XP_003960421 FLJ37396;bA487F23.3 putative uncharacterized protein C6orf183;transmembrane protein FLJ37396 protein-coding HGNC:21562 1346285 C6orf203 chromosome 6 open reading frame 203 FOUND IN mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; (R)-pantothenic acid; copper(2+) sulfate 6 6 6 q21 108097763 108120882 + 107349407 107372546 + 107028172 107051586 + 6480464 11042152;11707072;12107413;12477932;14574404;14702039;15489334;16169070;16344560;20186120;20877624;21832049;21988832;24250222;24816145 51250 Q9P0P8 ABBA01026182;ABBA01026183;ABBA01026184;AF151064;AI193526;AI693246;AK091564;AL355586;AMYH02014248;AMYH02014249;BC010899;BX333652;CD673918;CH471051;DA167160;DB499205;NM_001142468;NM_001142470;NM_016487;XM_005267008 AAF36150;AAH10899;ADZ15801;BAG52381;EAW48402;NP_001135940;NP_001135942;NP_057571;Q9P0P8;XP_005267065 Hs.486084;Hs.689004 2180854;5022339 HSPC230;RH45359 FLJ34245;HSPC230;PRED31;RP11-59I9.1 OTTHUMP00000016927;hypothetical protein LOC51250;uncharacterized protein C6orf203 protein-coding ENSG00000130349 HGNC:17971 12873 VALIDATED 1343779 C6orf195 chromosome 6 open reading frame 195 INTERACTS WITH atrazine 6 6 6 p25.2 3851932 3864257 - 2622972 2635298 - 2622738 2635064 - 12477932;14574404;14702039;15489334;23251661 154386 Q96MT4 ABBA01048629;AK056496;AL138876;AMYH02012983;BC104007;BC104008;BC104009;CH471087;LN608103;NM_152554 AAI04008;AAI04009;AAI04010;BAB71197;EAW55081;NP_689767;Q96MT4 Hs.680574 FLJ31934;MGC120321;MGC120322;MGC120323;RP11-145H9.2;bA145H9.2 OTTHUMP00000015942;hypothetical protein LOC154386;uncharacterized protein C6orf195 protein-coding ENSG00000164385 HGNC:21600 12870 VALIDATED 1351690 C6orf215 chromosome 6 open reading frame 215 p21.3 16702430;8838313 80866 AB088092;X90534 GT257 miscrna HGNC:30986 1354340 C6orf201 chromosome 6 open reading frame 201 6 6 6 p25.2 5308009 5359561 + 4079440 4131000 + 4079206 4130788 + 12477932;17207965;21832049 404220 B3KW47;B4DXB2;E9PC17;Q7Z4U5 ABBA01021999;AF429972;AK124114;AK301893;AL033383;AMYH02013010;BC047663;BC066986;BI459567;CH471087;NM_001085401;NR_104463;NR_104464;XM_005249111;XM_005249112;XM_006715097 AAH47663;AAH66986;AAP97304;ADQ32979;BAG54009;BAG63324;EAW55155;EAW55156;EAW55157;NP_001078870;Q7Z4U5;XP_005249168;XP_005249169;XP_006715160 Hs.716731;Hs.742216 1658219;1679251;1744295;1744297;2182043 D6S1142E;GDB:451589;GDB:451598;RH70427;RH99317 MGC87625;dJ1013A10.5 OTTHUMP00000213693;OTTHUMP00000213725;hypothetical protein LOC404220;uncharacterized protein C6orf201 protein-coding ENSG00000185689 HGNC:21620 12872 VALIDATED 1602792 C6orf226 chromosome 6 open reading frame 226 INTERACTS WITH aflatoxin B1; benzo[a]pyrene; quercetin 6 6 6 p21.1 44410270 44410821 - 42858003 42858554 - 42890265 42890816 - 6480464 12477932 441150 Q5I0X4 ABBA01050708;AL035587;AMYH02013632;AX061662;BC051007;BC060325;BC073804;BC094854;NM_001008739 AAH60325;AAH73804;AAH94854;ADR82728;CAC25022;NP_001008739;Q5I0X4 Hs.571098 OTTHUMP00000211032;hypothetical protein LOC441150;uncharacterized protein C6orf226 protein-coding ENSG00000221821 HGNC:34431 17403 PROVISIONAL 1353225 C6orf36 chromosome 6 open reading frame 36 p21.3 140785 Z93017 protein-coding HGNC:17979 1605195 C6orf222 chromosome 6 open reading frame 222 ASSOCIATED WITH Melanoma (inferred) 6 6 6 p21.31 37838123 37859251 - 36283534 36304662 - 36315757 36336885 - 8554872 12477932;14574404 389384 P0C671 ABBA01038256;ABBA01038257;AMYH02013553;AMYH02013554;BC140873;BX648558;CH471081;NM_001010903;Z84484 AAI40874;EAX03884;NP_001010903;P0C671 Hs.162104 DKFZp779B1540 OTTHUMP00000216602;hypothetical protein LOC389384;uncharacterized protein C6orf222 protein-coding ENSG00000189325 HGNC:33769 16824 VALIDATED 1313144 C6orf211 chromosome 6 open reading frame 211 INTERACTS WITH copper(2+) sulfate; cyclosporin A; hydrogen peroxide 6 6 6 q25.1 152507286 152525096 + 151773422 151791236 + 151452258 151470101 + 6480464 12477932;14574404;14702039;15489334;17353931;18029348;18978678;21139048;21540461;21552322;21906983;24654937 79624 B4DPT6;F2Z3I8;F5GZY1;Q9H993 ABBA01025635;ABBA01025636;AJ420548;AK022972;AK298490;AK310840;AL110241;AL590543;AMYH02014725;BC011348;CH471051;DB443862;NM_001286562;NM_024573 AAH11348;BAB14339;BAG60698;CAB53692;EAW47744;EAW47745;NP_001273491;NP_078849;Q9H993 Hs.15929 2166922 STS-T85358 DKFZp566I174;FLJ12910 OTTHUMP00000017433;UPF0364 protein C6orf211;hypothetical protein LOC79624 protein-coding ENSG00000146476 HGNC:17872 09854 VALIDATED 1605842 C6orf223 chromosome 6 open reading frame 223 INTERACTS WITH formaldehyde; methyl methanesulfonate; paracetamol 6 6 6 p21.1 45521486 45526844 + 43968337 43973695 + 44000600 44005958 + 6480464 12477932;21757650 221416 Q8N319;V9GYU4 ABBA01050660;AL109615;AMYH02013654;AW136542;BC029071;BC032706;BF515759;BX342526;CH471081;NM_001171992;NM_153246;XM_006715012 AAH29071;AAH32706;ABM87657;ABW03908;ACT64510;ACT64511;EAX04238;EAX04239;NP_001165463;NP_694978;Q8N319;XP_006715075 Hs.531926 MGC45491 OTTHUMP00000217343;OTTHUMP00000217344;hypothetical protein LOC221416;uncharacterized protein C6orf223 protein-coding ENSG00000181577 HGNC:28692 14640 VALIDATED 1606421 C6orf224 chromosome 6 open reading frame 224 q21 11181995;12477932 222521 AK098657;AL109947;BC101714;BC111948;BC143533;CH471051;NM_173559 AAI01715;AAI11949;AAI43534;BAC05368;EAW48336;NP_775830;Q3MIS4 Hs.335027 FLJ25791;MGC126763;MGC138153 protein-coding HGNC:26377 08076 1352614 C6orf43 chromosome 6 open reading frame 43 493815 HGNC:18774 1349360 C6orf42 chromosome 6 open reading frame 42 394256 HGNC:18773 7779583 C6orf229 chromosome 6 open reading frame 229 6 6 24797563 24799540 - 24797321 24798896 - 101928603 H3BNL8 ABBA01066538;AL133264;AL512428;AMYH02013330;AW015999;NM_001282492 H3BNL8;NP_001269421 Hs.635133 uncharacterized protein C6orf229;uncharacterized protein LOC101928603 protein-coding ENSG00000260286 HGNC:49394 VALIDATED 1353882 C6orf50 chromosome 6 open reading frame 50 FOUND IN integral component of membrane (inferred) p25.1 14574404 57052 Q9HD87 AF210650;AL138831 AAF99586;CAI20479;Q9HD87 Hs.150858 KIAA0536;NAG19 protein-coding HGNC:20481 1319485 C6orf57 chromosome 6 open reading frame 57 INVOLVED IN innate immune response (inferred); FOUND IN extracellular region (inferred); mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; benzo[a]pyrene 6 6 6 q13 71665041 71687022 + 71276625 71298606 + 70566922 70588903 + 6480464 12477932;14574404;15489334;17207965;20877624;21490949;24250222 135154 Q5VUM1 ABBA01040269;AL583856;AMYH02013875;BC018085;BC104649;BG703280;CF597237;CH471051;CS300728;NM_145267 AAH18085;AAI04650;ACT64428;ACT64429;ADQ33164;CAK32392;EAW48810;EAW48811;EAW48812;NP_660310;Q5VUM1 Hs.418495 5015861;7185938 D10S16 MGC104225 OTTHUMP00000016704;UPF0369 protein C6orf57;hypothetical protein LOC135154 protein-coding HGNC:20957 12888 VALIDATED 1354388 C6orf25 chromosome 6 open reading frame 25 This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.33 33289386 33291076 + 31691121 31694487 + 31723344 31726710 + 1304532;6480464 10384126 11076863;11544253;12477932;12665801;14574404;14656967;14702039;15848171;17192395;17311996;17678728;18955485;19143814;19851445;19913121;20628086;8889548 80739 B0V023;B7ZLJ5;F8WDG3;O95866 ABBA01038084;AF129756;AJ012008;AJ292259;AJ292260;AJ292261;AJ292262;AJ292263;AJ292264;AJ292265;AK092392;AL662899;AL670886;AL844216;AMYH02013453;BA000025;BC113719;BC113721;BC143850;BU681844;BX248244;CH471081;CR354443;CR759787;CR936239;NG_029044;NM_025260;NM_138272;NM_138273;NM_138274;NM_138275;NM_138277 AAD18075;AAI11843;AAI13720;AAI13722;AAI43851;ADR82871;BAB63378;BAG52544;CAB46080;CAC83496;CAC83497;CAC83498;CAC83499;CAC83500;CAC83501;CAC83502;EAX03492;EAX03493;EAX03494;EAX03495;EAX03496;EAX03497;EAX03498;EAX03499;NP_079536;NP_612116;NP_612117;NP_612118;NP_612119;NP_612121;O95866 Hs.247879 1685714;5014051;5022651;5037552;5493107 D11S2921;D8S2278;D8S2279;RH76564;UniSTS:484317 G6b;MGC142279;MGC142281;NG31 OTTHUMP00000029171;OTTHUMP00000029172;OTTHUMP00000029173;OTTHUMP00000029176;OTTHUMP00000029177;OTTHUMP00000215228;OTTHUMP00000215230;immunoglobulin receptor APPROVED protein-coding ENSG00000204420 HGNC:13937 09405 606520 REVIEWED 1345357 C6orf38 chromosome 6 open reading frame 38 p21 387055 AA913908;AI688709 Hs.369401 C6orf39;bA373N24.1 protein-coding HGNC:18690 1348700 C6orf52 chromosome 6 open reading frame 52 INTERACTS WITH formaldehyde; indometacin; quercetin 6 6 6 p24.1 11900143 11923522 - 10671651 10695030 - 10671418 10694797 - 737633;6480464 12477932 347744 D6RAP8;D6RGE8;Q5T4I8 ABBA01022083;ABBA01022084;AI376550;AI621292;AI809192;AL358777;AMYH02013098;AW183566;AW293245;BC016820;BX280692;CH471087;NM_001145020;NR_026736;NR_026737;XM_006715088;XM_006715089 AAH16820;EAW55264;NP_001138492;Q5T4I8;XP_006715151;XP_006715152 Hs.61389 OTTHUMP00000016016;OTTHUMP00000016017;putative uncharacterized protein C6orf52 protein-coding ENSG00000137434 HGNC:20881 PREDICTED 1354435 C6orf47 chromosome 6 open reading frame 47 FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; copper(2+) sulfate 6 6 6 p21.3 33224296 33226770 - 31626075 31628549 - 31658298 31660772 - 6480464 12477932;14574404;14656967;14667819;15489334;16169070;17081983;18835879;19143821;19851445;19913121;20628086;21890473;2477242;24816145 57827 O95873;Q9UMP7 ABBA01038084;AF129756;AJ245433;AL662801;AL662899;AL670886;AL805934;AMYH02013452;BA000025;BC012950;BC063584;BX511262;CH471081;CR354443;CR753842;CR759761;NM_021184 AAD18083;AAH12950;BAB63388;CAB51603;EAX03465;NP_067007;O95873 Hs.247323 1686830;1773416;2132093;2175166 A007I39;RH78482;RH92454;STS-W74100 D6S53E;G4;NG34 OTTHUMP00000029241;uncharacterized protein C6orf47 protein-coding ENSG00000204439 HGNC:19076 12883 VALIDATED 1350193 C6orf58 chromosome 6 open reading frame 58 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; arsane; arsenic atom 6 6 6 q22.33 128640558 128655201 + 127898319 127912963 + 127577174 127591818 + 6480464;8554872 12477932;14574404;15489334;16740002;19056867 352999 Q6P5S2 ABBA01025929;AK303850;AL583806;AMYH02014452;BC062712;CH471051;KF458276;NM_001010905 AAH62712;BAG64792;EAW48094;NP_001010905;Q6P5S2 Hs.226268 MGC72003 OTTHUMP00000017176;UPF0762 protein C6orf58;hypothetical protein LOC352999 protein-coding ENSG00000184530 HGNC:20960 17379 VALIDATED 1345123 C6orf92 chromosome 6 open reading frame 92 387076 HGNC:21164 1353600 C6orf7 chromosome 6 open reading frame 7 6 6 q14 80513304 80580137 - 79803587 79870420 - 20522523;23669352 89758 ABBA01040419;AL078462;AL132875;AL590241;AMYH02013973;AMYH02013974;AMYH02013975;HG499407;NM_001243308 NP_001230237 Hs.288213 RP1-159G19.1 hypothetical protein LOC89758;uncharacterized protein LOC89758 protein-coding HGNC:14109 VALIDATED 1354353 C6orf98 chromosome 6 open reading frame 98 q25.1 387079 NM_001099267 NP_001092737 dJ45H2.2 protein-coding HGNC:21178 1344247 C6orf48 chromosome 6 open reading frame 48 INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3-dimethoxynaphthalene-1,4-dione; arsenous acid 6 6 6 p21.3 33400945 33405790 + 31802693 31807541 + 31834915 31839766 + 6480464 12477932;14759258;19167051;19851445;19913121;20041166;20628086;23079975;23382691;8096093;8889548;8889549 50854 Q9UBA6 AA720680;ABBA01038089;AJ249731;AJ249732;AK311989;AL521625;AL556045;AL662834;AL671762;AL929592;AMYH02013456;BA000025;BC000706;BC017660;BC066330;BG109213;BG116666;BI114651;BJ996767;BM690817;BQ920527;BT007334;CD247791;CD249104;CH471081;CR388202;CR759915;HY060373;N91812;NM_001040437;NM_001040438;NM_001287482;NM_001287483;NM_001287484;NM_001287485;NM_001287486;NM_001287487;NM_001287488;W52524 AAH00706;AAH17660;AAP35998;ADZ15651;BAB63298;CAB56506;CAB56507;CAB56508;EAX03530;EAX03531;EAX03532;EAX03533;EAX03534;EAX03535;NP_001035527;NP_001035528;NP_001274411;NP_001274412;NP_001274413;NP_001274414;NP_001274415;NP_001274416;NP_001274417;Q9UBA6 Hs.640836;Hs.714250 1650615;2131873;2155308;5115473 G30247;RH41849;RH46105;RH47136 D6S57;G8 OTTHUMP00000029249;OTTHUMP00000029250;OTTHUMP00000029251;OTTHUMP00000029252;OTTHUMP00000029253;OTTHUMP00000029254;OTTHUMP00000029256;OTTHUMP00000174626 protein-coding ENSG00000204387 HGNC:19078 12015 605447 VALIDATED 1347069 C6orf62 chromosome 6 open reading frame 62 FOUND IN intracellular; INTERACTS WITH 5-azacytidine; arsane; arsenic atom 6 6 6 p22.3 25938465 25952778 - 24705089 24721064 - 24704861 24720836 - 737633;6480464 12477932 11230166;11256614;14574404;14702039;15489334;16169070;19322201 81688 B4DWX7;Q9GZU0 AB075502;ABBA01066538;AJ420475;AK022681;AK301718;AL031775;AL133264;AL136632;AMYH02013327;AY598792;BC040260;BC047866;CH471087;CR457292;CR533486;NM_030939;XM_005249433 AAH47866;AAT09203;ACE86559;ACE87241;BAB14175;BAE45752;BAG63189;CAB66567;CAG33573;CAG38517;EAW55461;EAW55462;EAW55463;EAW55464;NP_112201;Q9GZU0;XP_005249490 Hs.744857 1693744;1735590;1768687;1792864;2133526;2173311;5017801 C6orf62;D6S1127E;PMC166143P4;RH44630;RH68224;SGC33935;SHGC-58818 DKFZp564G182;FLJ12619;Nbla00237;XTP12;dJ30M3.2 HBV X-transactivated gene 12 protein;HBV X-transactivated protein 12;HBV XAg-transactivated protein 12;OTTHUMP00000016093;OTTHUMP00000016094;hypothetical protein LOC81688;uncharacterized protein C6orf62 protein-coding HGNC:20998 12891 VALIDATED 1347534 C6orf61 chromosome 6 open reading frame 61 ENCODES a protein that exhibits ATP binding (inferred); DNA binding (inferred); helicase activity (inferred); INVOLVED IN cellular response to DNA damage stimulus; double-strand break repair via homologous recombination; female gamete generation (ortholog); FOUND IN MCM8-MCM9 complex q22.31 14574404;14702039;16226853 54844 AK000177;AL132874;BN000882;XM_927492 BAA90991;CAC05409;CAJ70648;Q2KHJ0;Q8N5S5;Q9NXL9;XP_932585 Hs.279008 FLJ20170;MCM9;dJ329L24.1 protein-coding HGNC:18148 1350961 C6orf99 chromosome 6 open reading frame 99 6 6 6 q25.3 159957470 159979248 + 159290887 159331385 + 158869855 158910354 + 14574404 100130967 Q4VX62 ABBA01021075;ABBA01021076;AL627422;AMYH02014859;AW138390;BF688381;LN608119;LN608120;NM_001195032;XM_005266787;XM_005266788;XM_005266789;XM_006715297 NP_001181961;Q4VX62;XP_005266844;XP_005266845;XP_005266846;XP_006715360 Hs.32804 1680054;2131466 RH99275;SHGC-57156 yR211F11.1 OTTHUMP00000017513;putative uncharacterized protein C6orf99 protein-coding HGNC:21179 PREDICTED 1351072 C7orf13 chromosome 7 open reading frame 13 FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; diazinon; hydrogen peroxide 7 7 7 q36.3 150858250 150860538 - 156431060 156433348 - 156638366 156640654 - 6480464 11890671;12477932;12690205;14702039 129790 Q8NI28;Q9H3I6 ABBA01032376;AC005534;AF063598;AF439977;AI168080;AK056371;AMYH02017148;BC031037;BC050364;BC070228;CH236954;CH471149;NR_026865 AAG43157;AAM33252;EAL23919;EAX04550;Q8NI28 Hs.647014 MY040 ncrna ENSG00000182648 HGNC:17126 12908 610242 VALIDATED 1348833 C6orf89 chromosome 6 open reading frame 89 INVOLVED IN epithelial cell proliferation; positive regulation of cell cycle; wound healing; FOUND IN cytoplasm; plasma membrane; INTERACTS WITH atrazine; methyl methanesulfonate; paracetamol 6 6 6 p21.2 38408678 38451782 + 36853640 36896740 + 36871870 36928964 + 6480464 11076863;11230166;12477932;12975309;14574404;14702039;15489334;15489336;16381901;17461456;21857995;21890473;21906983;22268729;22930588;23460338 221477 B7Z9L9;Q5TDC5;Q5TDC7;Q6UWU4;Q96LN2 ABBA01038267;ABBA01038268;AJ420498;AJ420511;AK001957;AK025213;AK058086;AK172780;AK300351;AK315984;AL122034;AMYH02013558;AMYH02013559;AY358637;BC009380;BC021804;BC023605;BC032796;BC050582;BC095423;BC105946;BC105947;BC107489;BX538108;BX647220;CH471081;DQ487761;FR832871;FR832872;NM_001286635;NM_001286636;NM_001286637;NM_152734;XM_006715017 AAH23605;AAH95423;AAI05947;AAI05948;AAI07490;AAQ89000;ABF61801;BAB71656;BAD18761;BAG62093;BAH14355;CAD98021;CAL38248;CCA30148;CCA30149;EAX03919;EAX03920;EAX03921;EAX03922;NP_001273564;NP_001273565;NP_001273566;NP_689947;Q6UWU4;XP_006715080 Hs.433381 1661067;1666292;1672555;1682451;1688078;1728131;1779184;2128187;2182637;2187817;5020948;5109281 D1S1425;D6S1286;G35510;G63337;G69466;RH35893;RH46642;RH79658;RH94301;SHGC-33920;STS-R62412;WI-14896 BRAP;FLJ25357;MGC126060;MGC126061;MGC126062 OTTHUMP00000016311;OTTHUMP00000016312;OTTHUMP00000016313;amfion;bombesin receptor activated protein;bombesin receptor-activated protein C6orf89;hypothetical protein LOC221477;uncharacterized protein C6orf89 protein-coding ENSG00000198663 HGNC:21114 12905 VALIDATED 1349806 C7orf31 chromosome 7 open reading frame 31 INTERACTS WITH amiodarone; trichostatin A 7 7 7 p15.3 25163708 25209272 - 25164819 25219966 - 25125200 25180347 - 6480464 12477932;12853948;14702039;15489334;21832049;25074808;9847074 136895 C9J431;C9JF06;C9JTB1;Q8N865 ABBA01056732;AC004129;AK097248;AK098189;AMYH02015384;BC015397;BC043269;BC060879;BI830207;BX640851;CH236948;CH471073;NM_138811;XM_005249619;XM_005249620;XM_005249622 AAH15397;AAH43269;AAH60879;AAP22338;ADZ15585;BAC04985;BAC05255;CAE45919;EAL24238;EAW93825;EAW93826;EAW93827;EAW93828;NP_620166;Q8N865;XP_005249676;XP_005249677;XP_005249679 Hs.122055 2177964 GDB:1317782 OTTHUMP00000158611;OTTHUMP00000202039;hypothetical protein LOC136895;uncharacterized protein C7orf31 protein-coding ENSG00000153790 HGNC:21722 12919 VALIDATED 1317752 C7orf25 chromosome 7 open reading frame 25 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; elemental selenium 7 7 7 p14.1 42939193 42942010 - 42948223 42951689 - 42908726 42912090 - 6480464;8554872 12446740;12477932;16169070;17207965;21900206;24816145;8125298 79020 C9JF90;C9K0L6;Q9BPX7 ABBA01058178;AC010132;AK024820;AK225194;AK298865;AMYH02015604;BC000769;BC001845;CH236951;CH471073;DC303669;DC366585;NM_001099858;NM_024054;XM_005249844 AAH00769;AAH01845;ADQ31787;BAB15019;BAG60985;EAL24004;EAW94148;EAW94149;EAW94150;NP_001093328;NP_076959;Q9BPX7;XP_005249901 Hs.698120 1676568 RH94241 FLJ21167;MGC2821 OTTHUMP00000159093;OTTHUMP00000207371;OTTHUMP00000207372;OTTHUMP00000207374;OTTHUMP00000207375;UPF0415 protein C7orf25;hypothetical protein LOC79020 protein-coding ENSG00000136197 HGNC:21703 09861 VALIDATED 1342559 C7orf33 chromosome 7 open reading frame 33 INTERACTS WITH benzo[a]pyrene 7 7 7 q36.1 142958374 142983626 + 148287657 148312952 + 148590565 148615860 + 6480464 12477932;12690205;15489334 202865 Q8WU49 AACC02000041;ABBA01033596;AC005229;AMYH02017025;BC021251;CH471146;NM_145304 AAH21251;ADZ15654;EAL24420;EAW80075;EAW80076;EAW80077;NP_660347;Q8WU49 Hs.352212 2147894 GDB:3755045 OTTHUMP00000202308;hypothetical protein LOC202865;uncharacterized protein C7orf33 protein-coding ENSG00000170279 HGNC:21724 12921 PREDICTED 1317399 C7 complement component 7 C7 is a component of the complement system. It participates in the formation of Membrane Attack Complex (MAC). People with C7 deficiency are prone to bacterial infection. [provided by RefSeq, Jul 2008] 5 5 5 p13 40798197 40871625 + 40909599 40983041 + 40909497 40982939 + 1599528;1599522;1599523;1580863;6480464;6907045;7240710;8554872;8699517 12574424;15724448;6241952 10551839;10882776;10886241;11378347;12477932;12595902;1387399;14760718;1517503;15383587;15489334;15879120;15889368;16335952;1672663;17266113;18029348;18842294;19162005;19179470;19221116;19344414;19419965;19423540;19834535;19864026;19913121;19931914;20237496;20406964;20438785;20628086;21881993;22206826;23943762;2792129;3052276;3335508;7523157;7730625;7814888;8345200;8364540;8814254;8871666;8892662;9218625;9856499 730 P10643;Q05CI3 ABBA01024227;AC026732;AC114967;AK290349;AK304848;AK312737;AMYH02011216;AMYH02011217;AMYH02011218;AMYH02011219;BC025402;BC041807;BC063851;BC065305;CH471119;J03507;NG_011692;NM_000587;X86328;X86344;Y11720 AAA51861;AAH25402;AAH63851;ADR82762;BAF83038;BAG35608;BAG65588;CAA60121;CAA72407;EAW56007;EAW56008;NP_000578;P10643 Hs.78065 1681356;1745113;1745535;1745537;1795458;2132758 C7_298;D5S2658;GDB:594803;GDB:623672;GDB:623675;RH80221 OTTHUMP00000197104;complement component C7 APPROVED protein-coding ENSG00000112936 HGNC:1346 01957 217070;610102 REVIEWED 1602100 C7orf49 chromosome 7 open reading frame 49 FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 7 7 7 q33 129588008 129593008 - 134850532 134855578 - 135165780 135170826 - 6480464 12477932;12690205;15342556;16344560;17043244;24816145;8889548 78996 C9JKC7;Q9BWK5 ABBA01001113;AC083862;AI632984;AK026103;AK130795;AL708733;AMYH02016813;AMYH02016814;BC000168;BC067350;BE674385;BG770658;BM727569;BP213903;BQ423284;CB961457;CH236950;CH471070;DA213716;DB129229;NM_001243749;NM_001243751;NM_001243752;NM_001243753;NM_001243754;NM_001243755;NM_024033 AAH00168;AAH67350;BAC85431;EAL24064;EAW83840;EAW83841;NP_001230678;NP_001230680;NP_001230681;NP_001230682;NP_001230683;NP_001230684;NP_076938;Q9BWK5 Hs.732134;Hs.744954 1685542;1697316;1735648 D7S2063E;RH102155;RH80739 FLJ22450;FLJ27285;MGC5242;MRI OTTHUMP00000208012;OTTHUMP00000208013;modulator of retrovirus infection homolog protein-coding ENSG00000122783 HGNC:22432 08333 VALIDATED 1345356 C7orf34 chromosome 7 open reading frame 34 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 7 7 7 q34 137473461 137474817 + 142636603 142637957 + 142939506 142940870 + 737633;8554872 12477932 12690205;15489334;16189514 135927 Q96L11 AB083483;AB083484;ABBA01034131;AC099652;AC245136;AI990561;BC014596;CH236959;CH471198;NG_007492;NM_178829 AAH14596;BAB88941;BAB88942;EAL23778;EAW51894;EAW51895;NP_849151;Q96L11 Hs.239676 1683235;2121871 D7S2887;RH99241 ctm-1 MSSP-binding protein CTM-1;OTTHUMP00000202176;hypothetical protein LOC135927;uncharacterized protein C7orf34 protein-coding ENSG00000165131 HGNC:21750 12922 VALIDATED 1603950 C7orf50 chromosome 7 open reading frame 50 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH arsane; arsenic atom; benzene 7 7 7 p22.3 1004263 1143944 - 1036623 1177911 - 996987 1138275 - 6480464;8554872 12477932;15146197;16189514;16196087;16341674;18482256;19471022;19953087;20834067;21139048;21145461;21832049;21907836;22990118;23940030;24097068;24332808;24457600;24778252;8889548 84310 C9JQV0;H7C0T1;H7C2R9;Q9BRJ6 ABBA01039315;ABBA01039316;ABBA01039317;ABBA01039318;ABBA01039319;ABBA01039320;AC073957;AC091729;AF495721;AMYH02015037;AMYH02015038;AMYH02015039;BC006224;BC025971;BM676072;BM763235;CH236953;CH236965;CH471144;CN261680;NM_001134395;NM_001134396;NM_032350;XM_005249886;XM_005249887;XM_005249888;XM_005249889;XM_006715793 AAH06224;AAH25971;AAQ06675;EAW87188;EAW87189;EAW87190;NP_001127867;NP_001127868;NP_115726;Q9BRJ6;XP_005249943;XP_005249944;XP_005249945;XP_005249946;XP_006715856 Hs.653258;Hs.732316 1697044;1765393;1765933;1774795;1775742;1797604;1856229;2120030;2135708;2142692;2166947;2167318;5017686 D7S2090E;D7S2826;GPR146_2063;GPR30;RH102001;RH11876;RH65680;RH70704;SHGC-148880;SHGC-149337;SHGC-32510;SHGC-34866;STS-N27306 MGC11257;YCR016W OTTHUMP00000200082;OTTHUMP00000200083;OTTHUMP00000200084;OTTHUMP00000200094;OTTHUMP00000213381;hypothetical protein LOC84310;hypothetical protein mgc11257;uncharacterized protein C7orf50 protein-coding ENSG00000146540 HGNC:22421 14413 VALIDATED 1317382 C7orf26 chromosome 7 open reading frame 26 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (S)-colchicine; adenine; cisplatin 7 7 7 p22.1 6086824 6105263 - 6629681 6648357 + 6590277 6608726 + 6480464;8554872 12477932;14702039;15489334;16169070;20133760;21907836 79034 H7BZK9;H7C0Q5;Q96N11 ABBA01056495;ABBA01056496;AC079742;AK056149;AMYH02015178;BC001076;BC005121;CH236963;CH878731;NM_024067;XM_005249845;XR_242101 AAH01076;AAH05121;BAB71104;EAW55021;EAW55022;NP_076972;Q96N11;XP_005249902 Hs.487511 1670640;1847113;2117094;2120538;2131161;2142035;2142037 A008D23;D7S2646;GDB:4585098;RH12045;RH48523;SHGC-55949;STS-Z41394 MGC2718 OTTHUMP00000155172;OTTHUMP00000200655;hypothetical protein LOC79034;uncharacterized protein C7orf26 protein-coding ENSG00000146576 HGNC:21702 12913 PROVISIONAL 7255398 C7orf55-LUC7L2 C7orf55-LUC7L2 readthrough This locus represents naturally occurring readthrough transcription between the neighboring C7orf55 (chromosome 7 open reading frame 55) and LUC7L2 (LUC7-like 2) genes on chromosome 7. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2012] 7 7 q 139025878 139108203 + 139341132 139423457 + 6480464;8554872 12853948;20967262;9847074 100996928 F8WEU3;Q96HJ9;V9GZ75 ABBA01001188;AC083880;AC083883;AK297642;AMYH02016884;AMYH02016885;AMYH02016886;NM_001244584 BAH12639;NP_001231513 Hs.731488 1674956 SGC30686 protein-coding HGNC:44671 VALIDATED 2303475 C7orf65 chromosome 7 open reading frame 65 7 7 7 p12.3 47795219 47801624 + 47694842 47701246 + 47655244 47661648 + 12690205;16344560 401335 Q6ZTY9 ABBA01041094;AC095067;AK126096;AMYH02015659;CH236958;DB341636;LN608143;NM_001123065 BAC86438;EAL23804;NP_001116537;Q6ZTY9 Hs.520816 5015619;5022578;5037552 D11S3114;D1S1423;D8S2279 FLJ44108 protein;OTTHUMP00000208225;hypothetical protein LOC401335;uncharacterized protein C7orf65 protein-coding HGNC:34432 VALIDATED 1605367 C7orf43 chromosome 7 open reading frame 43 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH elemental selenium; selenium atom; cadmium dichloride (ortholog) 7 7 7 q22.1 94487394 94491646 - 99752043 99756338 - 100154420 100158679 - 6480464;8554872 11076863;11230166;11256614;12477932;12690205;14702039;15489334;15489336;16169070;16381901;24255178 55262 B3KNS5;C9JMZ9;E9PFF9;F8WFE0;H0Y452;H7C1F8;Q8WVR3 ABBA01013231;ABBA01013232;AC073842;AK001787;AK054872;AK302342;AK310170;AL136555;AMYH02016374;BC002749;BC015722;BC094727;CH236956;CH471091;NM_018275 AAH02749;AAH15722;BAA91911;BAG51437;BAG63670;CAB66490;CAL37853;EAL23848;EAW76580;EAW76581;EAW76582;EAW76583;NP_060745;Q8WVR3 Hs.533139 1774863;2134644 D7S2925;WI-20780 DKFZp761G0712;FLJ10925 OTTHUMP00000206833;OTTHUMP00000206843;OTTHUMP00000206870;hypothetical protein LOC55262;uncharacterized protein C7orf43 protein-coding ENSG00000146826 HGNC:25604 07716 PREDICTED 1603879 C7orf62 chromosome 7 open reading frame 62 7 7 7 q21.13 83128231 83129842 - 88423420 88425031 - 88794106 88795717 - 12477932;12690205;17207965;22493691 219557 Q8TBZ9 ABBA01045858;AC002127;AMYH02016229;BC028365;CH236949;CH471091;HC007144;HC044757;NM_152706 AAH28365;ADQ31577;CBH19377;CBH30708;EAL24169;EAW76902;NP_689919;Q8TBZ9 Hs.112877 MGC26647 OTTHUMP00000204499;hypothetical protein LOC219557;uncharacterized protein C7orf62 protein-coding ENSG00000164645 HGNC:22402 14507 VALIDATED 1606951 C7orf60 chromosome 7 open reading frame 60 ENCODES a protein that exhibits rRNA (adenine) methyltransferase activity (inferred); INVOLVED IN rRNA methylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; formaldehyde; quercetin 7 7 7 q31.1 107271822 107392595 - 112459202 112579932 - 112819147 112939877 - 6480464;8554872 12477932;14702039;16344560;18951430;20379614;24250222 154743 H0Y6Y0;Q1RMZ1 ABBA01057838;ABBA01057839;ABBA01057840;ABBA01057841;AC018464;AC073183;AF274937;AK056380;AK299901;AL834437;AMYH02016588;AMYH02016589;AMYH02016590;BC114615;CH236947;CH471070;DA738444;KF458556;NM_152556 AAI14616;BAB71169;BAG61743;CAD39097;EAW83473;EAW83474;NP_689769;Q1RMZ1 Hs.489734 1852676;2147601 D7S2885;G17120 FLJ31818 OTTHUMP00000207494;OTTHUMP00000207495;UPF0532 protein C7orf60;hypothetical protein LOC154743;probable methyltransferase BTM2 homolog protein-coding ENSG00000164603 HGNC:26475 08108 VALIDATED 1606950 C7orf55 chromosome 7 open reading frame 55 FOUND IN mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; cyclosporin A; hydrogen peroxide 7 7 7 q34 133764065 133768709 + 139025196 139031065 + 139340450 139346319 + 6480464 11076863;12477932;12853948;14702039;15489336;16381901;16712791;20877624;21890473;24816145;8889548 154791 Q96HJ9 AA393224;AA620996;ABBA01001188;AC083880;AF161386;AK093018;AMYH02016884;AMYH02016885;BC008467;BI117784;BM672187;BU852633;CB125801;CH236950;CH471070;NG_030012;NM_197964;NR_073058;NR_073059;NR_073060 AAF28946;AAH08467;AAS07478;ABM84075;ABM87443;CAL38025;EAW83912;EAW83913;EAW83914;EAW83915;NP_932068;Q96HJ9 Hs.718441 1650458;5015619;5015961;5022322;5022651;5024756;5037552 D11S2560;D11S2921;D11S3114;D15S1477;D8S2279;RH80030;SHGC-56728 FLJ35699;FMC1;HSPC268 OTTHUMP00000200424;UPF0562 protein C7orf55;formation of mitochondrial complexes 1 homolog protein-coding ENSG00000164898 HGNC:26946 13714 VALIDATED 1642900 C7orf57 chromosome 7 open reading frame 57 INTERACTS WITH copper atom; copper(0); valproic acid 7 7 7 p12.3 48174395 48200108 + 48075108 48100894 + 48035511 48061297 + 6480464 12477932;19193627;20379614 136288 C9JQZ6;F5H7J8;J3KQX6;Q86XB5;Q8NEG2 ABBA01041079;ABBA01041080;AC069279;AMYH02015666;BC031107;BC045737;BI560654;CH236958;NM_001100159;NM_001267865;NM_001267866;XM_006715649;XM_006715650 AAH31107;AAH45737;NP_001093629;NP_001254794;NP_001254795;Q8NEG2;XP_006715712;XP_006715713 Hs.258357 OTTHUMP00000208687;OTTHUMP00000208689;OTTHUMP00000208690;hypothetical protein LOC136288;uncharacterized protein C7orf57 protein-coding ENSG00000164746 HGNC:22247 VALIDATED 1606444 C7orf66 chromosome 7 open reading frame 66 FOUND IN integral component of membrane (inferred); INTERACTS WITH cadmium atom 7 7 7 q31.1 103336979 103337578 - 108524038 108524637 - 108883981 108884580 - 6480464 12690205;22006218;22219177;9887257 154907 A4D0T2 ABBA01057887;AC004014;AMYH02016535;CH236947;NM_001024607 A4D0T2;EAL24381;NP_001019778 Hs.276325 1704602 SHGC-83114 OTTHUMP00000206841;Putative uncharacterized protein LOC154907;hypothetical protein LOC154907;uncharacterized protein C7orf66;uncharacterized protein LOC154907-like protein-coding ENSG00000205174 HGNC:33712 18563 PREDICTED 1604426 C7orf76 chromosome 7 open reading frame 76 7 7 7 q21.3 90810971 90832868 - 96110938 96132835 - 96481626 96503523 - 12477932;19801982;22504420;24249740 401388 B7ZVW6;Q6ZVN7 ABBA01045766;AC092031;AK124274;AMYH02016307;AMYH02016308;BC140736;BC171740;CH236949;NM_001201450;NM_001201451 AAI40737;AAI71740;BAC85824;NP_001188379;NP_001188380;Q6ZVN7 Hs.734935 hypothetical protein LOC401388;putative uncharacterized protein C7orf76;putative uncharacterized protein FLJ42280 APPROVED protein-coding ENSG00000127922 HGNC:33815 16959 VALIDATED 2902413 C7orf72 chromosome 7 open reading frame 72 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH phenacetin (ortholog); phenylhydrazine (ortholog) 7 7 7 p12.2 50229773 50293484 + 50135682 50198852 + 50096086 50159256 + 6480464;8554872 12690205;12853948;20379614 100130988 A4D263 ABBA01008171;AC020743;AC034148;AI696031;AMYH02015687;AMYH02015688;AMYH02015689;BX092263;CH236955;DY654485;NM_001161834 A4D263;EAL23902;NP_001155306 Hs.99248 OTTHUMP00000208843;hypothetical protein LOC100130988;uncharacterized protein C7orf72 protein-coding HGNC:22564 VALIDATED 1602147 C7orf61 chromosome 7 open reading frame 61 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); Aroclor 1254 (ortholog); benzo[a]pyrene (ortholog) 7 7 7 q22.1 94784037 94791693 - 100054238 100062063 - 100456615 100464271 - 6480464;8554872 12477932;12690205;17207965 402573 H7C3K1;Q8IZ16 ABBA01013210;ABBA01013211;ABBA01013212;ABBA01013213;AC092849;AMYH02016380;BC031966;CH236956;NM_001004323 AAH31966;ADQ32435;EAL23832;NP_001004323;Q8IZ16 Hs.632306 1339079;1652662;1682351;1759619;7187384 D7S2480;GDB:1317218;RH92106;SHGC-153234 OTTHUMP00000196705;hypothetical protein LOC402573;uncharacterized protein C7orf61 protein-coding ENSG00000185955 HGNC:22135 17558 PREDICTED 1605032 C7orf69 chromosome 7 open reading frame 69 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 7 7 7 p12.3 47933226 47957778 + 47834889 47859445 + 47795291 47819847 + 8554872 12477932;12690205;12853948 80099 C9JS17;Q9H7B7 ABBA01041084;AC019066;AC069282;AK024728;AMYH02015660;BC113679;BC113681;CA420605;CH236958;CH471128;LN608144;LN608145;NM_025031 AAI13680;AAI13682;AAS07564;BAB14977;EAL23806;EAW61008;NP_079307;Q9H7B7 Hs.287647 FLJ21075 OTTHUMP00000208381;hypothetical protein LOC80099;uncharacterized protein C7orf69 protein-coding HGNC:21911 08635 VALIDATED 1352401 C8orf16 chromosome 8 open reading frame 16 p23.1 83735 AF131215;AJ312026;CH471157;NM_001014439 CAC84873;EAW65603;NP_001014439;Q8TCU9 Hs.660259 miscrna HGNC:15628 18701 1605484 C8orf15 chromosome 8 open reading frame 15 p23.1 12477932 439940 AF131215;AJ312027;BC132953;BC132979;CH471157;NM_001033662 AAI32954;AAI32980;CAC84874;EAW65602;NP_001028834;Q8TCU8 Hs.661517 protein-coding HGNC:15627 1319211 C8G complement component 8, gamma polypeptide The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011] 9 9 9 q34.3 110353929 110355658 + 139839333 139841426 + 136944885 136946974 + 1580863;6480464;6907045 10387094;11041874;11058761;12033936;12220191;12413696;12477932;15164053;16341674;16618117;16935577;1707134;17452033;18440555;19048311;19423540;20406964;20438785;2446620;2447883;3052276;3676249;8172891;8865989;9476128 733 P07360;Q5SQ08 ABBA01022733;AL807752;AMYH02021914;AW663384;BC113624;BC113626;BM852158;BX282392;CH471090;M17263;M17999;NG_029580;NM_000606;U08198;X06465;XR_245338 AAA18482;AAA51863;AAA51888;AAI13625;AAI13627;ADR83494;CAA29773;EAW88316;NP_000597;P07360 Hs.1285 2158636;5492759;5493443 UniSTS:482381;UniSTS:486325;WI-6981 C8C;MGC142186 OTTHUMP00000022634;complement component C8 gamma chain APPROVED protein-coding ENSG00000176919 HGNC:1354 00407 120930 REVIEWED 5480038 C7orf73 chromosome 7 open reading frame 73 FOUND IN extracellular region (inferred); INTERACTS WITH copper atom; copper(0); valproic acid 7 7 7 q33 130084680 130098619 + 135347221 135361160 + 135662473 135676412 + 6480464 12477932;16344560;17720804;8889548 647087 E0CX11 ABBA01001123;ABBA01001124;AC091736;AC093107;AMYH02016822;BC016741;BC021734;BC031327;BC047474;BC063529;BC073942;BC107765;BM979743;CH236950;DA785733;NM_001130929 E0CX11;NP_001124401 Hs.200022 1643939;1682245;1744281;1762395;1776607 GDB:451559;RH26240;RH68700;SHGC-146230;STS-H98777 PL-5283 OTTHUMP00000221117;uncharacterized protein C7orf73 protein-coding ENSG00000243317 HGNC:41909 VALIDATED 1352674 C8B complement component 8, beta polypeptide This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 1 1 1 p32.2 55679648 55716484 - 57394883 57433213 - 56929210 56968277 - 1600501;1580863;6480464;6907045;7240710;8554872;8699517 7515561 10387094;10551839;11041874;12220191;12413696;12477932;1360193;16199891;16335952;16618117;16624411;16710414;18842294;19162005;19344414;19423540;19864026;20237496;20406964;20438785;21073882;21454577;2284574;2571125;2613233;2759635;2820472;3052276;3171181;3435043;3624872;3651397;3676249;3879968;451601;468996;6415112;7440581;7594510;7710765;8020197;8098723;8131848;8345200;8365729;9165271;9476128;9476133 732 B7Z550;B7Z555;F5GY80;F5H7G1;P07358;Q05CV3 ABBA01074676;AK292740;AK298425;AK298444;AK313382;AK316209;AL121998;AL161740;AMYH02001081;BC020701;BC130575;CD364465;CH471059;M16973;NG_007285;NM_000066;NM_001278543;NM_001278544;X04393;XM_005271166;XM_006710873 AAA51862;AAH20701;AAI30576;ADR83218;BAF85429;BAG36180;BAH12786;BAH12791;BAH14580;CAA27981;EAX06641;EAX06642;EAX06643;NP_000057;NP_001265472;NP_001265473;P07358;XP_005271223;XP_006710936 Hs.391835 1652324;1658705;1669058;1722349;1742987;1743585;1777699;2120524;2172444;2178855 D1S519;G60243;GDB:228022;GDB:352688;L17910;SHGC-33530;SHGC-74868;SHGC-74885;SHGC-74888;WI-8974 C82;MGC163447 OTTHUMP00000010015;complement component 8 subunit beta;complement component C8 beta chain APPROVED protein-coding ENSG00000021852 HGNC:1353 00410 120960;613789 REVIEWED 3030166 C7orf71 chromosome 7 open reading frame 71 7 7 7 p15.2 26666461 26675896 + 26677490 26686924 + 26637871 26647305 + 12107410;12477932;12690205;14702039 285941 A4D174 ABBA01056751;AC003999;AK093321;AMYH02015399;AMYH02015400;BC112220;BC112222;BC143810;CA390440;CH236948;LN608132;NM_001145531;XM_005249717 A4D174;EAL24232;NP_001139003;XP_005249774 Hs.413394 1652932 STS-N29318 OTTHUMP00000202568;hypothetical protein LOC285941;putative uncharacterized protein C7orf71;uncharacterized protein LOC285941 protein-coding ENSG00000222004 HGNC:22364 PREDICTED 1354286 C8orf17 chromosome 8 open reading frame 17 FOUND IN endoplasmic reticulum (inferred); membrane (inferred) 56988 Q9NRJ1 AF220264;NM_020237 HGNC:17737 1318077 C8A complement component 8, alpha polypeptide C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008] 1 1 1 p32 55604960 55668425 + 57320443 57383894 + 56854770 56918221 + 1600501;1580863;6480464;6907045;7240710;8699517;8554872 7515561 10387094;10551839;11041874;11297196;12220191;12413696;12463754;12477932;1551680;16335952;16618117;16710414;16761437;16935577;17872444;18440555;18842294;19048311;19423540;19913121;20237496;20379614;20406964;20438785;20628086;21507937;2820471;3052276;3171181;3624872;4063341;6771072;7440581;7544344;7649542;7759071;9647238;9759902 731 P07357;Q05CV2 ABBA01074676;AK309596;AL121998;AMYH02001081;BC020702;BC132911;BC132913;CH471059;M16974;NG_012049;NM_000562;U08006 AAA52200;AAA82124;AAH20702;AAI32912;AAI32914;ADR83082;EAX06644;EAX06645;EAX06646;NP_000553;P07357 Hs.93210 1658627;1709886;1718245;1760639;1797340;2159336;2163445 C8A_1366;D1S3432;RH122892;RH17669;RH64775;SHGC-144179;SHGC-84784 OTTHUMP00000010016;complement component 8 subunit alpha;complement component C8 alpha chain APPROVED protein-coding ENSG00000157131 HGNC:1352 00409 120950;613790 REVIEWED 2300133 C8orf29 chromosome 8 open reading frame 29 p12 552863 BQ426089 Hs.583797 protein-coding HGNC:15681 2300134 C8orf28 chromosome 8 open reading frame 28 q21.3 552862 BI767459 Hs.674222 protein-coding HGNC:25912 1606663 C8orf31 chromosome 8 open reading frame 31 INTERACTS WITH all-trans-retinoic acid 8 8 8 q24.3 140430937 140445971 + 144120679 144135720 + 143039262 143054303 + 6480464 12477932;14702039 286122 Q8N9H6 ABBA01005274;ABBA01005275;AC083982;AC236721;AK094450;AMYH02018932;BC063497;BC073830;BC120993;CH471162;NM_173687;XM_006716544;XM_006725097 AAH73830;BAC04358;EAW82281;EAW82282;EAW82283;NP_775958;Q8N9H6;XP_006716607;XP_006725160 Hs.660382 5037552 D8S2279 FLJ37131;MGC90155 OTTHUMP00000227437;hypothetical protein LOC286122;uncharacterized protein C8orf31 protein-coding HGNC:26731 08781 PREDICTED 1349468 C8orf22 chromosome 8 open reading frame 22 INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; silicon dioxide 8 8 8 q11 45972114 45975853 + 49966895 49988642 + 49054336 49076083 + 6480464;8554872 11329013;12477932;15489334;16344560 492307 Q8WWR9 ABBA01041660;AC044893;AJ276240;AMYH02017947;BC017981;BG202040;BX500169;CH471068;DA820911;DA900243;NM_001007176;NM_001256596;NM_001256597;NM_001256598 AAH17981;ACT64579;ACT64580;CAC81690;EAW86701;EAW86702;EAW86703;NP_001007177;NP_001243525;NP_001243526;NP_001243527;Q8WWR9 Hs.49890;Hs.741050 1700524;1735446;1735740 D5S1577E;D8S1355E;RH103883 OTTHUMP00000226209;OTTHUMP00000226210;OTTHUMP00000226211;OTTHUMP00000226294;exocrine differentiation and proliferation factor-like protein;pancreatic progenitor cell differentiation and proliferation factor-like protein protein-coding ENSG00000168333 HGNC:31745 16670 VALIDATED 1346279 C8orf4 chromosome 8 open reading frame 4 This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011] 8 8 8 p11.2 38962805 38964636 + 40010987 40012827 + 40153468 40155308 + 6480464 11056052;12477932;15087392;15185345;15489334;16424001;16740781;17178857;17207965;17520678;17603013;17905836;18959821;19322201;19684084;20878554;21139048;22658654;23377761;23880650;24937306;8889548 56892 Q9NR00 ABBA01015904;AC022733;AF268037;AF268038;AI861861;AI935347;AK026240;AMYH02017850;BC020623;BC021672;BM976768;BX434108;CH471080;NM_020130 AAF78961;AAH20623;AAH21672;ACE87044;ACE87727;ADQ33213;EAW63268;NP_064515;Q9NR00 Hs.591849;Hs.745031 1698842 RH102985 MGC22806;TC-1;TC1;hTC-1 OTTHUMP00000225689;human thyroid cancer 1;thyroid cancer protein 1;thyroid cancer-1;uncharacterized protein C8orf4 APPROVED protein-coding ENSG00000176907 HGNC:1357 09650 607702 REVIEWED 1606135 C8orf37 chromosome 8 open reading frame 37 This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012] 8 8 8 q22.1 92443250 92466452 - 96257141 96281707 - 95244913 95269479 - 8699517;7240710;8554872 12477932;14702039;16344560;20301590;20379614;22177090;23251661;23788369;24250222;25113443 157657 F4Y588;Q96NL8 AA897574;ABBA01037480;AC024995;AK055162;AMYH02018446;AP003466;BC036855;BC150301;CH471060;DA473498;DB205618;GQ240139;NG_032804;NM_177965;XM_005250799 AAI72331;ADE62519;BAB70866;EAW91744;EAW91745;NP_808880;Q96NL8;XP_005250856 Hs.548157 1675804;1777927;5020948 G35510;RH99292;SHGC-56949 CORD16;FLJ30600;RP64 OTTHUMP00000227184;hypothetical protein LOC157657;smalltalk;uncharacterized protein C8orf37 APPROVED protein-coding ENSG00000156172 HGNC:27232 14104 614477;614500 REVIEWED 1606262 C8orf44 chromosome 8 open reading frame 44 FOUND IN nucleus; INTERACTS WITH hydrogen peroxide; trichostatin A; valproic acid 8 8 8 q13.1 63581240 63586021 + 67579787 67597797 + 66667552 66681149 + 6480464 12477932;14702039;15489334;16344560 56260 E5RJQ3;Q96CB5 AA551208;ABBA01041876;AC090154;AK002129;AMYH02018109;AX878228;BC014448;CH471068;DA341401;NM_019607 AAH14448;BAA92096;CAE90063;EAW86917;EAW86918;NP_062553;Q96CB5 Hs.661238 FLJ11267 OTTHUMP00000226970;OTTHUMP00000226971;putative uncharacterized protein C8orf44 protein-coding ENSG00000213865 HGNC:25646 07744 VALIDATED 8553073 C8orf37-AS1 C8orf37 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 96281031 96822371 + 95268836 95810143 + 8554872 23251661;23350875;23568457 100616530 ABBA01037480;ABBA01037481;ABBA01037482;ABBA01037483;ABBA01037484;ABBA01037485;ABBA01037486;ABBA01037487;AC024995;AC083836;AC108924;AC116154;AMYH02018446;AMYH02018447;AMYH02018448;AMYH02018449;AMYH02018450;AMYH02018451;GU295153;GU295154;GU295155;GU295156;GU295157;GU295158;GU295159;GU295160;GU295161;GU295162;GU295163;GU295164;HG501493;HG501494;KF458800;KF458802;KF458804;KF458806;KF459912;KF459915;KF459916;KF459917;KF459919;KF459920;KF459921;NR_038201;NR_038202;NR_038203;NR_038204;NR_038205;NR_038206;NR_038207;NR_038208;NR_038209 ADT65081;ADT65082;ADT65083;ADT65084;ADT65085;ADT65086;ADT65087;ADT65088;ADT65089;ADT65090;ADT65091;ADT65092 Hs.554328;Hs.738554;Hs.740242 ncrna ENSG00000253773 HGNC:50444 VALIDATED 1604869 C8orf49 chromosome 8 open reading frame 49 FOUND IN integral component of membrane (inferred) 8 8 8 p23.1 10748104 10749646 + 11618765 11620732 + 11761256 11763223 + 12477932;14702039;22500510 606553 E9PQH1;Q96NF6 ABBA01026877;AC069185;AK055534;AMYH02017441;BC132945;BC136882;CH471157;NR_103552 AAI32946;AAI36883;EAW65622;Q96NF6 Hs.545529 1681275;1754435;2169795;2172970;5022322 D11S2560;RH11694;RH91374;SHGC-132501;SHGC-33472 FLJ30972;G4DM ncrna ENSG00000255394 HGNC:32200 PREDICTED 2304146 C8orf48 chromosome 8 open reading frame 48 INTERACTS WITH atrazine; formaldehyde; valproic acid 8 8 8 p22 12389653 12391098 + 13424352 13425797 + 13566843 13568288 + 6480464 12477932;16189514;19060904;23455924;24250222;8889548 157773 Q96LL4 ABBA01021622;AC022832;AF394908;AK058131;AK058156;AMYH02017482;BC031245;CB306127;CH471080;NM_001007090 AAH31245;AAQ02889;BAB71677;BAB71692;EAW63850;NP_001007091;Q96LL4 Hs.104941 1688975 RH92548 FLJ25402 OTTHUMP00000229934;hypothetical protein LOC157773;uncharacterized protein C8orf48 protein-coding ENSG00000164743 HGNC:26345 16922 VALIDATED 1601950 C8orf57 chromosome 8 open reading frame 57 q21.3 11230166 84257 Q9BQG3 AL136588 CAB66523;Q9BQG3 Hs.492187 DKFZp761D112 protein-coding HGNC:25411 1349776 C8orf5 chromosome 8 open reading frame 5 203080 AJ305312;NM_182754 HGNC:15539 1601708 C8orf46 chromosome 8 open reading frame 46 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; coumestrol 8 8 8 q13.1 63398468 63423736 + 67405491 67430759 + 66493256 66518524 + 6480464;8554872 12477932;14702039;15489334 254778 E5RH60;E5RJS6;E5RKA6;Q8TAG6;R4GNJ7 ABBA01041871;AC009879;AK055047;AK096336;AK294261;AK308800;AK315486;AMYH02018106;BC028400;CH471068;DC344091;H17010;NM_152765 AAH28400;ACT64493;ACT64494;BAG37870;BAG57555;EAW86908;EAW86909;EAW86910;NP_689978;Q8TAG6 Hs.268869 1661554;1673195;1676652;1777739;2120644;2147864 1978;A002V38;D8S1398E;D8S1578;HSC15E112;RH91788 MGC33510 OTTHUMP00000211258;OTTHUMP00000226956;OTTHUMP00000226957;OTTHUMP00000228340;hypothetical protein LOC254778;uncharacterized protein C8orf46 protein-coding ENSG00000169085 HGNC:28498 14565 VALIDATED 7243524 C8orf44-SGK3 C8orf44-SGK3 readthrough This locus represents naturally occurring read-through transcription between the neighboring putative uncharacterized protein C8orf44 (GeneID 56260) and serine/threonine-protein kinase Sgk3 (GeneID 23678) genes on chromosome 8. The read-through transcript produces a protein that shares sequence identity with the downstream gene product. [provided by RefSeq, Feb 2011] 8 8 67579787 67774257 + 66667552 66862022 + 6480464;8554872 10548550;10585774;12397388;14702039;15489334;16460280;16790420;16888620;16959974;17344846;20967262 100533105 Q96BR1 ABBA01041876;ABBA01041877;ABBA01041878;ABBA01041879;ABBA01041880;ABBA01041881;ABBA01041882;AC011031;AC090154;AMYH02018109;AMYH02018110;AMYH02018111;AMYH02018112;AMYH02018113;AMYH02018114;AMYH02018115;AMYH02018116;NM_001204173 NP_001191102;Q96BR1 Hs.613417 1855803;2118769;5014740;5015619;5015961;5022322;5037552 D11S2560;D11S3114;D15S1477;D17S610;D8S2279;SHGC-36195;STS-H98714 cytokine-independent survival kinase;serine/threonine-protein kinase Sgk3;serum/glucocorticoid-regulated kinase 3 protein-coding HGNC:48354 VALIDATED 1606509 C8orf33 chromosome 8 open reading frame 33 INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; methotrexate 8 8 8 q24.3 142454766 142458407 + 146277823 146281416 + 145052438 145056030 + 6480464 12477932;16169070;16344560;19060904;21139048;21145461;21832049;21900206;21907836;24816145 65265 Q9H7E9 ABBA01005190;AC139103;AF086170;AK024642;AMYH02019021;BC010001;BC015181;BX648996;CH471162;CR457330;DA467518;NM_023080 AAH10001;AAH15181;BAB14943;CAG33611;EAW82022;EAW82023;NP_075568;Q9H7E9 Hs.169615 1677568 RH65235 FLJ20989 OTTHUMP00000229101;UPF0488 protein C8orf33;hypothetical protein LOC65265 protein-coding ENSG00000182307 HGNC:26104 07951 VALIDATED 1602379 C8orf61 chromosome 8 open reading frame 61 p23.3 14702039 619435 Q8N8I7 AC100810;AK096736;NM_001034061 BAC04854;NP_001029233;Q8N8I7 Hs.591392 FLJ39417 protein-coding HGNC:32277 2300141 C8orf63 chromosome 8 open reading frame 63 q24.3 619339 BQ919341 protein-coding HGNC:21804 1605303 C8orf34 chromosome 8 open reading frame 34 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH calcitriol; trichostatin A; valproic acid 8 8 8 q13 65343493 65724632 + 69242957 69731258 + 68330722 68819023 + 6480464;8554872 12477932;14702039;21732829;22664479;23251661;23314748;8889548 116328 E5RJD9;Q49A92 AB056652;ABBA01041912;ABBA01041913;ABBA01041914;AC011884;AC067871;AC083967;AC090096;AK094191;AK094650;AK291436;AL834454;AMYH02018146;AMYH02018147;AMYH02018148;AMYH02018149;AMYH02018150;BC041961;BC143425;BM684412;CH471068;KF458774;KF458778;NM_001195639;NM_052958;XM_005251149 AAH41961;BAB64433;BAC04304;BAC04395;BAF84125;CAD39114;EAW86945;EAW86946;EAW86947;EAW86948;EAW86949;NP_001182568;NP_443190;Q49A92;XP_005251206 Hs.491941 1338544;1647742;1704528;1705114;1711290;1720863;1734080;1749163;1750477;1752431;1767627;1786546;1850408;2114198;2139426;2148262;2152111;5021872;5037552 D7S2658;D8S1380E;D8S1495;D8S1582;D8S1792;D8S2279;D8S23;G32204;G59259;RH18165;SHGC-106363;SHGC-110852;SHGC-111385;SHGC-111787;SHGC-79977;SHGC-83060;SHGC-84172;WI-20666;sY3084 DKFZp547E186;FLJ36872;FLJ37331;VEST-1;VEST1 A830018L16Rik;OTTHUMP00000226698;OTTHUMP00000226700;OTTHUMP00000226701;hypothetical protein LOC116328;uncharacterized protein C8orf34;vestibule 1;vestibule-1 protein protein-coding ENSG00000165084 HGNC:30905 18281 VALIDATED 1604140 C8orf59 chromosome 8 open reading frame 59 INTERACTS WITH cadmium atom; quercetin; valproic acid 8 8 8 q21.2 82131333 82137694 - 86126288 86132643 - 85214053 85220414 - 6480464 11597177;12477932;15146197;16341674;16344560;21139048;21963094;23000965;25015289 401466 E5RGR5;Q8N0T1 ABBA01004010;AC011773;AK000414;AMYH02018350;BC032347;BC055092;BC062221;BC146983;BC146988;BC157825;BC171873;BG926519;BM785759;CB119146;CD103186;CH471068;CN280666;CN481353;DB094478;ES312850;KF573693;NM_001099670;NM_001099671;NM_001099672;NM_001099673;NM_001293320;NR_120681 AAH32347;AAI46984;AAI46989;AAI57826;EAW87124;EAW87125;EAW87126;EAW87127;NP_001093140;NP_001093141;NP_001093142;NP_001093143;NP_001280249;Q8N0T1 Hs.443072 1776082;1797490;2116893;2125751;2180191 E2F5_2517;RH16329;RH46301;SGC35072;SHGC-35383 OTTHUMP00000227510;OTTHUMP00000227512;OTTHUMP00000227967;OTTHUMP00000227969;OTTHUMP00000227970;hypothetical protein LOC401466;uncharacterized protein C8orf59 protein-coding ENSG00000176731 HGNC:32235 VALIDATED 1353747 C8orf6 chromosome 8 open reading frame 6 203081 NM_145656 HGNC:15542 2300142 C8orf67 chromosome 8 open reading frame 67 p23.3 10737800 619338 BF742662 Hs.678836 protein-coding HGNC:21519 1606363 C8orf82 chromosome 8 open reading frame 82 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; formaldehyde; benzo[a]pyrene (ortholog) 8 8 8 q24 141927283 141930130 - 145751599 145754485 - 144526219 144529074 - 6480464;8554872 12477932 414919 H0YEK9;H0YF29;J3KNI2;Q6P1X6 ABBA01005200;AC084125;AMYH02019009;AMYH02019010;BC064373;BC064829;BC073936;CH471162;NM_001001795 AAH64373;AAH64829;AAH73936;EAW82063;EAW82064;NP_001001795;Q6P1X6 Hs.105685 1648009 RH11522 MGC70857 OTTHUMP00000228796;OTTHUMP00000228798;UPF0598 protein C8orf82;hypothetical protein LOC414919 protein-coding HGNC:33826 17567 PREDICTED 5688531 C8orf87 chromosome 8 open reading frame 87 8 8 8 q22.1 90333068 90365817 - 94146324 94179079 - 93134095 93166850 - 12477932;20889312 389676 E5RJ46;H0YBK8 ABBA01037432;ABBA01037433;AC016885;AC022825;AMYH02018413;BC089453;LN608239;NM_001242668 E5RJ46;NP_001229597 Hs.386711 1340639;1711930 D8S1818;G49576 uncharacterized protein C8orf87;uncharacterized protein LOC389676 protein-coding HGNC:42974 VALIDATED 1345698 C8orf8 chromosome 8 open reading frame 8 p23-p22 11896452 83647 Q96KT2 AJ301561 CAC82737;Q96KT2 Hs.404138 protein-coding HGNC:15544 1602035 C8orf86 chromosome 8 open reading frame 86 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 8 8 8 p11.22 37321247 37339347 - 38368352 38386180 - 38510834 38528662 - 8554872 12477932 389649 Q6ZUL3 ABBA01023530;ABBA01023531;AC069120;AC087623;AK125570;AMYH02017832;AMYH02017833;AMYH02017834;BC137511;BC137512;BC139744;NM_207412 AAI37512;AAI37513;AAI39745;BAC86207;NP_997295;Q6ZUL3 Hs.546586 FLJ43582 OTTHUMP00000225520;hypothetical protein LOC389649;uncharacterized protein C8orf86 protein-coding ENSG00000196166 HGNC:33774 13474 PREDICTED 7409763 C8orf88 chromosome 8 open reading frame 88 8 8 8 q21.3 88165437 88192235 - 91970706 91997485 - 90958478 90985257 - 16344560;20379614 100127983 P0DMB2 ABBA01037412;ABBA01037413;AC087439;AC103770;AMYH02018396;BI562585;BI829215;CH471060;DA838443;NM_001190972 EAW91671;NP_001177901;P0DMB2 Hs.733266 uncharacterized protein C8orf88;uncharacterized protein LOC100127983 protein-coding ENSG00000253250 HGNC:44672 VALIDATED 1343550 C9orf101 chromosome 9 open reading frame 101 445578 HGNC:31361 9586312 C8orf89 chromosome 8 open reading frame 89 8 8 8 q21.11 70151089 70169273 - 74153623 74174150 - 73241388 73261915 - 12477932 100130301 ABBA01041962;AC008598;AC100823;AC111149;AMYH02018209;BC150551;BC150552;DT932667;NM_001243237;XM_005251126 NP_001230166;XP_005251183 Hs.202296 uncharacterized protein LOC100130301 protein-coding ENSG00000274443 HGNC:51258 VALIDATED 1602854 C8orf76 chromosome 8 open reading frame 76 INTERACTS WITH benzene; benzo[a]pyrene; cyclosporin A 8 8 8 q24.13 120421270 120442656 - 124232196 124253656 - 123219956 123241398 - 6480464 12477932;14702039;15489334;19416867;20379614;21906983;8125298 84933 Q96K31 ABBA01037869;ABBA01037870;AC068228;AK027731;AK222660;AMYH02018703;BC067796;CH471060;DR156993;GD144749;NM_032847 AAH67796;ACT64409;ACT64410;BAB55327;BAD96380;EAW92026;NP_116236;Q96K31 Hs.707401 1679143;1689145;1847469;2123583;2167102 RH48703;RH80528;RH93745;STS-AA032013;STS-N32331 FLJ14825;MGC9784 OTTHUMP00000228384;hypothetical protein LOC84933;uncharacterized protein C8orf76 protein-coding ENSG00000189376 HGNC:25924 08605 VALIDATED 1320687 C9 complement component 9 This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009] 5 5 5 p14-p12 39170963 39251580 - 39284377 39364655 - 39284275 39364553 - 1580863;6480464;6907045;7240710;8699517;8554872 10551839;11027207;11359403;11881818;12463754;12477932;12596049;1377690;14760718;15489334;16263699;16335952;16618117;16712791;1672663;16844690;17482181;17644516;18029348;18842294;19056867;19162005;19344414;19423540;19739077;19864026;19913121;20139276;20153530;20237496;20383146;20406964;20438785;20628086;21057849;21380615;21507937;21840429;22190594;22528500;23487461;23750785;23943762;2395434;2426252;2744767;3219351;3624872;4018030;4063341;6095282;7523406;8345200;8471847;8603752;8630395;9144525;9570574;9634479;9703418 735 P02748;Q9UGI4 ABBA01024210;AC008846;AC025471;AJ251818;AK308045;AMYH02011197;BC020721;CB135741;CB157001;CH471119;J02833;K02766;NG_009894;NM_001737;X02176;Y08545 AAA51889;AAA51890;AAH20721;ABM82336;CAA26117;CAA69849;CAB66087;EAW55986;EAW55987;EAW55988;NP_001728;P02748 Hs.654443 1653135;1705146;1768376;1776755;2140543;2176333 D5S2371;RH11647;SGC33368;SHGC-80007;STS-K02766;WI-12573 ARMD15;C9D OTTHUMP00000119994;complement component C9 APPROVED protein-coding ENSG00000113600 HGNC:1358 00408 120940;613825;615591 REVIEWED 1604880 C8orf58 chromosome 8 open reading frame 58 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 8 8 8 p21 21418974 21423515 + 22457114 22461663 + 22599601 22604150 + 6480464;8554872 12477932;14702039;16751776;17207965;18029348 541565 E5RJ64;H0YAZ5;Q8NAV2 ABBA01005525;AC037459;AI380311;AK092034;AK295405;AMYH02017594;BC012750;BI910955;DC328974;DQ593874;NM_001013842;NM_001198827;NM_173686 AAH12750;ADQ32183;BAC03795;BAG58356;NP_001013864;NP_001185756;NP_775957;Q8NAV2 Hs.743508 1688110;1698432;1699706 RH102761;RH103458;RH79699 FLJ34715 OTTHUMP00000205210;OTTHUMP00000205211;hypothetical protein LOC541565;uncharacterized protein C8orf58 protein-coding ENSG00000241852 HGNC:32233 18675 VALIDATED 1606427 C8orf74 chromosome 8 open reading frame 74 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol 8 8 8 p23.1 9658009 9685862 + 10530147 10558103 + 10672637 10700593 + 6480464;8554872 12477932;15489334;23455924 203076 E5RJ53;H0YBH0;Q6P047 ABBA01026889;AC105001;AK131443;AMYH02017429;BC038534;BC065837;BC132852;BC132854;CH471157;HC006850;NM_001040032 AAH65837;AAI32853;AAI32855;ADR82897;CBH19230;EAW65593;NP_001035121;Q6P047 Hs.371776 1338216;1697090;7184055 D8S520;RH102027 OTTHUMP00000224980;hypothetical protein LOC203076;uncharacterized protein C8orf74 protein-coding ENSG00000171060 HGNC:32296 VALIDATED 1348246 C9orf118 chromosome 9 open reading frame 118 q22.32 15164053 414312 A6NHY6;B1AM58 AL161728 A6NHY6;CAH72691 bA342C23.1 Putative uncharacterized protein C9orf118 protein-coding HGNC:25943 1343592 C9orf114 chromosome 9 open reading frame 114 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q34.11 102235130 102242872 - 131581930 131592299 - 128819651 128830016 - 737633;6480464 12477932 11042152;11790298;15164053;15489334;17207965;20813266;21900206;21906983;21963094;22990118;24457600;24816145 51490 Q5T280;R4GNG4 ABBA01043904;AF161459;AK303563;AL110193;AL441992;AMYH02021728;BC010579;BC021273;BC033677;BC039590;BC046133;BC056890;BC063644;BM997763;CH471090;NM_016390;XM_005252045;XM_005252046 AAF29074;AAH10579;AAH21273;AAH33677;AAH39590;AAH46133;AAH63644;ADQ32533;BAG64586;EAW87838;EAW87839;NP_057474;Q5T280;XP_005252102;XP_005252103 Hs.224137 2108057;2125011 ENDOG_7788;RH78082 CENP-32;DKFZp566D143;HSPC109;MGC29492;RP11-545E17.7 OTTHUMP00000022300;centromere protein 32;hypothetical protein LOC51490;uncharacterized protein C9orf114 protein-coding ENSG00000198917 HGNC:26933 12935 VALIDATED 1353369 C9orf116 chromosome 9 open reading frame 116 INTERACTS WITH 17alpha-ethynylestradiol; cadmium dichloride; copper(2+) sulfate 9 9 9 q34.3 108904156 108908891 - 138387026 138391761 - 135495180 135499915 - 737633;6480464 12477932 14702039;15164053;15489334 138162 H0Y549;Q5BN46 ABBA01030037;AI367252;AI873313;AK024007;AL161452;AMYH02021871;AY927868;BC021261;CH471090;DR003074;NM_001048265;NM_144654 AAH21261;AAX22217;ABM83710;ABM87030;EAW88154;EAW88155;NP_001041730;NP_653255;Q5BN46 Hs.414028 1696930 RH101935 FLJ13945;MGC29761;PIERCE1;RP11-426A6.4;RbEST47;cells OTTHUMP00000022533;OTTHUMP00000022534;OTTHUMP00000022536;UPF0691 protein C9orf116;hypothetical protein LOC138162;p53-induced expression 1 in Rb−/−p53-induced expression 1 in Rb-/- cells;p53-induced expression 1 in Rbâ¿¿/â¿¿;p53-induced expression in RB-null cells protein 1;pierce 1 protein-coding ENSG00000160345 HGNC:28435 12937 614502 VALIDATED 1349151 C9orf120 chromosome 9 open reading frame 120 414322 HGNC:31413 1349578 C9orf106 chromosome 9 open reading frame 106 INTERACTS WITH arsenite(3-) 9 9 9 q34.11 102734238 102735825 + 132083295 132084882 + 129321016 129322603 + 6480464 12477932;14702039;21139048 414318 Q8NAJ2 ABBA01043923;AK092588;AL161785;AMYH02021735;BC132699;BC132701;CH471090;NM_001012715 AAI32700;AAI32702;BAC03921;EAW87887;NP_001012733;Q8NAJ2 Hs.449434 1786974;1823784;1827270;1828498;1829502;1831194;1832440;1833834;1835662;1929304;1929306;1929308;1929310;1929312;1929314;1929316;1929318;1929320;1929322;1929324;1929326;1929328;1929330;1929332;1929334;1929336;1929338;1929340;1929342;1929344;1929346;1929348;1929350;1929352;2208570;2208572;2208574;2208576;2208578;5037552 D8S2279;ECD12984;ECD14750;ECD15376;ECD15882;ECD16733;ECD17359;ECD18063;ECD18988;REN35481;REN35482;REN35483;REN35484;REN35485;REN35486;REN35487;REN35488;REN35489;REN35490;REN35491;REN35492;REN35493;REN35494;REN35495;REN35496;REN35497;REN35498;REN35499;REN35500;REN35501;REN35502;REN35503;REN35504;REN35505;SHGC-145676;stSG628365;stSG628366;stSG628367;stSG628368;stSG628369 bA65J3.5 putative uncharacterized protein C9orf106 protein-coding HGNC:31370 10207 VALIDATED 1343575 C9orf117 chromosome 9 open reading frame 117 9 9 9 q34.11 101120163 101127195 + 130469263 130476303 + 127706984 127714024 + 12477932;14702039;21145461 286207 A2RUS6;Q5JU67 ABBA01043840;AK094948;AK126437;AL162426;AL833241;AMYH02021693;AMYH02021694;BC125172;BC133027;BC141809;CH471090;NM_001012502;XM_006717064 AAI33028;AAI41810;EAW87682;EAW87683;EAW87684;NP_001012520;Q5JU67;XP_006717127 Hs.652519 1677476;2179981 RH92521;SGC30286 RP11-56D16.5 OTTHUMP00000022194;hypothetical protein LOC286207;uncharacterized protein C9orf117 protein-coding ENSG00000160401 HGNC:27843 16673 PREDICTED 1626519 C9orf147 chromosome 9 open reading frame 147 q32 100113405 H0Y7W3;U3KQ76 AK131020 Hs.662552 bA32M23.3 protein-coding HGNC:31438 1344533 C9orf148 chromosome 9 open reading frame 148 q33.2 12477932 401550 BC039180 Hs.644347 protein-coding HGNC:24214 7246739 C9orf135-AS1 C9orf135 antisense RNA 1 (head to head) 9 9 9 q21.11 43024687 43026002 - 72434321 72435655 - 69819405 69820739 - 12477932 494558 ABBA01033816;AL162412;AMYH02020945;BC039385;BG717523;BI830190;NR_038833 Hs.130722 1729588 D9S110 ncrna HGNC:48713 VALIDATED 1604527 C9orf131 chromosome 9 open reading frame 131 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 9 9 9 p13.3 34973075 34977961 + 35041102 35045988 + 35041095 35045991 + 6480464;8554872 12477932;14702039;16344560;18187620 138724 F5H224;F5H4E3;F8W7H5;Q5VYM1 ABBA01064998;AK090398;AK097595;AK302123;AL133575;AL353795;AMYH02019455;BC045643;DB068600;DB072581;DB072610;DB077276;DB081756;DB091135;DB093341;DB096349;DB097641;NM_001040410;NM_001040411;NM_001040412;NM_001287391;NM_203299 AAH45643;BAC03379;BAG63501;CAB63722;NP_001035500;NP_001035501;NP_001035502;NP_001274320;NP_976044;Q5VYM1 Hs.148250;Hs.742567 2128862;5014267;5015861;5022200;5022576;5022651;5037552;7185938 D10S16;D11S2921;D1S1361;D8S2279;G29284;L18426;REN93612 FLJ00273;MGC41945 OTTHUMP00000021323;OTTHUMP00000239652;OTTHUMP00000239653;OTTHUMP00000239674;hypothetical protein LOC138724;uncharacterized protein C9orf131 protein-coding ENSG00000174038 HGNC:31418 14616 VALIDATED 1350389 C9orf129 chromosome 9 open reading frame 129 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; all-trans-retinoic acid; (S)-nicotine (ortholog) 9 9 9 q22.31 66522701 66550923 - 96080481 96108696 - 93318199 93346414 - 6480464;8554872 20379614 445577 Q5T035 ABBA01018607;AL583839;AMYH02021236;NM_001098808;XM_006717117 NP_001092278;Q5T035;XP_006717180 Hs.575636 1768531;2116753;2169832 IB543;RH66306;WI-15809 bA165J3.3 OTTHUMP00000021675;putative uncharacterized protein C9orf129 protein-coding ENSG00000204352 HGNC:31116 PREDICTED 1605872 C9orf135 chromosome 9 open reading frame 135 FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; trichostatin A 9 9 9 q21.12 43026105 43111542 + 72435731 72521148 + 69820815 69906232 + 6480464 12477932;15164053;16335952;20379614;20818722 138255 A7E2U4;E9PIA3;H0YD79;H0YDM9;Q5VTT2 AA416734;ABBA01033816;ABBA01033817;ABBA01033818;ABBA01033819;AL162412;AL591215;AL603625;AMYH02020945;AMYH02020946;AMYH02020947;BC136709;BC144373;BC144374;BC144375;BC150564;CD684431;CH471089;NM_001010940;XM_005251705 AAI36710;AAI50565;EAW62492;NP_001010940;Q5VTT2;XP_005251762 Hs.444459 1704720;1729588 D9S110;SHGC-79021 OTTHUMP00000021439;OTTHUMP00000232342;OTTHUMP00000232346;hypothetical protein LOC138255;uncharacterized protein C9orf135 protein-coding ENSG00000204711 HGNC:31422 17298 VALIDATED 1318524 C9orf151 chromosome 9 open reading frame 151 q34.3 401560 AA916420;BI827090 Hs.528581 bA413M3.2 protein-coding HGNC:31453 1603806 C9orf139 chromosome 9 open reading frame 139 INTERACTS WITH diazinon 9 9 9 q34.3 1026 2262 - 139921916 139931234 + 137027464 137036782 + 12477932;14702039 401563 Q6ZV77 ABBA01022736;ABBA01022737;ABBA01022738;AK093587;AK124899;AL807752;AMYH02021918;AMYH02021919;AMYH02021920;BC132809;BC136839;CH471090;NM_207511 AAI32810;AAI36840;ADR83488;BAC04202;BAC85986;EAW88334;NP_997394;Q6ZV77 Hs.522509 1792768;1795874;2163150 FUT7_665;PMC16366P1;STS-X78031 FLJ36268;FLJ42909 OTTHUMP00000022650;hypothetical protein LOC401563;uncharacterized protein C9orf139 protein-coding ENSG00000180539 HGNC:31426 16942 PREDICTED 1352712 C9orf155 chromosome 9 open reading frame 155 497260 AL161447;NM_001099268 CAH73151;NP_001092738 FLJ23608;bA379P1.3 protein-coding HGNC:29844 1606404 C9orf142 chromosome 9 open reading frame 142 FOUND IN extracellular vesicular exosome; INTERACTS WITH coumestrol; methyl methanesulfonate; cadmium dichloride (ortholog) 9 9 9 q34.3 110399180 110400738 + 139886870 139888428 + 136992418 136993976 + 6480464 12477932;17207965;21139048;21832049 286257 Q9BUH6 ABBA01022734;AL807752;AMYH02021915;BC002613;BC038191;CH471090;NM_183241 AAH02613;AAH38191;ADQ32091;EAW88324;EAW88325;EAW88326;EAW88327;EAW88328;NP_899064;Q9BUH6 Hs.409582 1669143;5123576 STS-T23618;WI-19910 OTTHUMP00000022672;hypothetical protein LOC286257;uncharacterized protein C9orf142 protein-coding ENSG00000148362 HGNC:27849 14163 PREDICTED 1604152 C9orf153 chromosome 9 open reading frame 153 9 9 9 q21.33 59412336 59444629 - 88835180 88874572 - 86220265 86259657 - 12477932;15164053;15489334 389766 Q5TBE3 ABBA01016308;AL137849;AMYH02021153;BC108665;BG772848;BI827110;CH471089;HC006858;NM_001276366;NM_001276367;NM_001276368 AAI08666;CBH19234;EAW62710;EAW62711;NP_001263295;NP_001263296;NP_001263297;Q5TBE3 Hs.632073 MGC131702;bA507D14.1 OTTHUMP00000021589;hypothetical protein LOC389766;uncharacterized protein C9orf153 protein-coding ENSG00000187753 HGNC:31456 16677 VALIDATED 1602164 C9orf164 chromosome 9 open reading frame 164 q22.2 14702039;15164053 349236 AJ420442;AK090804;AK091601;AK097056;AK128342;AL929575;BC137515;BC137518;NM_182635 AAI37516;AAI37519;BAC04938;CAI95794;NP_872441;Q8N8B0 Hs.714762 FLJ39737 protein-coding HGNC:28023 14184 1604151 C9orf171 chromosome 9 open reading frame 171 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH paracetamol; cisplatin (ortholog); dibutyl phthalate (ortholog) 9 9 9 q34.13 105827436 105990419 + 135285430 135448734 + 132410196 132573319 + 6480464;8554872 12477932;19913121;20379614;20628086;23251661 389799 A2A393;Q6ZQR2 ABBA01032484;ABBA01032485;ABBA01032486;ABBA01032487;AK128819;AL353701;AL354735;AMYH02021806;AMYH02021807;AMYH02021808;AMYH02021809;AMYH02021810;AMYH02021811;AMYH02021812;BC118593;BC124555;CH471090;HY017665;NM_001282957;NM_207417 AAI18594;AAI24556;BAC87621;EAW88003;EAW88004;NP_001269886;NP_997300;Q6ZQR2 Hs.201709 1337349;1738303;1740535;5020611 D9S1275;D9S149;D9S1847;UniSTS:224561 FLJ46082;MGC148067;RP11-738I14.8 OTTHUMP00000162463;OTTHUMP00000213246;hypothetical protein LOC389799;uncharacterized protein C9orf171 protein-coding ENSG00000188523 HGNC:33776 13522 VALIDATED 1602292 C9orf163 chromosome 9 open reading frame 163 9 9 9 q34.3 109892404 109894976 + 139377947 139380519 + 136483495 136486067 + 12477932;14702039;17353931;24250222 158055 Q8N9P6;Q96NJ1 ABBA01022709;AK055336;AK094098;AL592301;AMYH02021902;BC036221;BC117152;BC117154;CH471090;NM_152571 AAI17153;AAI17155;ADR82842;BAB70904;BAC04285;EAW88240;NP_689784;Q8N9P6 Hs.212613 5493399 UniSTS:485993 FLJ36779;RP11-413M3.11 OTTHUMP00000162518;hypothetical protein LOC158055;uncharacterized protein C9orf163 protein-coding ENSG00000196366 HGNC:26718 08211 VALIDATED 1313441 C9orf156 chromosome 9 open reading frame 156 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); viral process (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 9 9 9 q22.33 71181022 71199104 - 100662380 100684852 - 97900099 97922570 - 6480464 11042152;12477932;14702039;18654987;19779022;20350937;20583170;21963094;22493691;24250222;9153233 51531 Q5T111;Q5T112;Q5T114;Q9BU70 ABBA01042926;AF151053;AK000213;AK023069;AK302701;AK309270;AL499604;AMYH02021313;AX880095;AY189280;BC002863;CH471105;NM_016481;X86033;XM_005252047;XM_005252048;XM_005252049;XM_005252050 AAF36139;AAH02863;AAO86724;ABM83909;ABM87230;BAA91013;BAH13783;CAA60025;CAE90800;EAW58858;EAW58859;EAW58860;NP_057565;Q9BU70;XP_005252104;XP_005252105;XP_005252106;XP_005252107 Hs.9196 2148084 D9S1711 HSPC219;NAP1;RP11-23B15.3 Nef (lentivirus myristoylated factor) associated protein 1;Nef associated protein 1;OTTHUMP00000022729;nef-associated protein 1;thioesterase NAP1 protein-coding ENSG00000136932 HGNC:30967 12945 VALIDATED 1603810 C9orf170 chromosome 9 open reading frame 170 ASSOCIATED WITH Melanoma (inferred) 9 9 9 q21.33 60335217 60346294 + 89763559 89774641 + 87148644 87159726 + 8554872 12477932;14702039;15489334 401535 A2RU37 ABBA01016317;ABBA01016318;AK127445;AL158205;AMYH02021159;BC132741;BC136791;NM_001001709 A2RU37;AAI32742;AAI36792;ADR82813;NP_001001709 Hs.657740 1770107 WI-17567 FLJ45537 OTTHUMP00000215881;hypothetical protein LOC401535;uncharacterized protein C9orf170 protein-coding ENSG00000204446 HGNC:33817 16988 VALIDATED 1342470 C9orf152 chromosome 9 open reading frame 152 INTERACTS WITH coumestrol; formaldehyde; hydralazine 9 9 9 q31.3 83463470 83472042 - 112961841 112970413 - 110199561 110208133 - 6480464 12477932;15164053;15489334;15851553 401546 A8K2L3;Q5JTZ5 ABBA01042750;AK290278;AL353598;AMYH02021448;BC110807;BX648492;BX648620;CD722791;CH471105;NM_001012993 AAI10808;ABZ92215;ACE86941;ACE87629;BAF82967;EAW59058;NP_001013011;Q5JTZ5 Hs.125608 1697256 RH102122 MGC131682;bA470J20.2 OTTHUMP00000021886;hypothetical protein LOC401546;uncharacterized protein C9orf152 protein-coding ENSG00000188959 HGNC:31455 10249 VALIDATED 1347051 C9orf33 chromosome 9 open reading frame 33 q22.1 90477 O75562;Q5JUI2 AF072164;AL160054 AAC24864;CAI41367;O75562;Q5JUI2 Hs.667154 HFSE-1 protein-coding HGNC:23374 1604889 C9orf173 chromosome 9 open reading frame 173 9 9 9 q34.3 110661314 110663520 + 140145713 140147935 + 137250862 137253686 + 12477932;14702039 441476 B7ZM74;Q8N7X2 ABBA01022752;AK097565;AMYH02021928;BC033939;BC050094;BC132726;BC144308;BC144310;BC144311;BC144314;BX255925;CH471090;DB453255;NM_001004353;NM_001256699;NM_001256700;NM_001256701;NR_046339;NR_046340;XM_006717113;XM_006717114;XM_006717115 AAH33939;AAI32727;AAI44309;AAI44312;AAI44315;ADR82979;BAC05104;EAW88374;EAW88375;EAW88376;NP_001004353;NP_001243628;NP_001243629;NP_001243630;Q8N7X2;XP_006717176;XP_006717177;XP_006717178 Hs.372640 1681829;1687077 RH69719;RH94267 FLJ40246 hypothetical protein LOC441476;uncharacterized protein C9orf173 APPROVED protein-coding ENSG00000197768 HGNC:37285 17408 VALIDATED 1342591 C9orf16 chromosome 9 open reading frame 16 INTERACTS WITH acetylsalicylic acid; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 9 9 9 q34.1 101573422 101577094 + 130922539 130926207 + 128160260 128163928 + 6480464 10369878;12477932;14702039;15146197;15489334;16189514;16964243;18330356;24722188 79095 Q9BUW7;Q9Y3F6 ABBA01043870;AK022885;AK315753;AL590708;AMYH02021710;BC001857;BC008887;CH471090;CN360246;DB493059;NM_024112;Y17449;Y17450 AAH01857;AAH08887;BAG38107;CAB44344;CAB44366;EAW87751;NP_077017;Q9BUW7 Hs.522412 1664190;1730199;5022200 D9S1673E;L18426;RH48361 EST00098;FLJ12823;MGC4639 OTTHUMP00000022233;UPF0184 protein C9orf16;hypothetical protein LOC79095 protein-coding ENSG00000171159 HGNC:17823 12946 VALIDATED 3302853 C9orf172 chromosome 9 open reading frame 172 9 9 9 q34.3 110252657 110255587 + 139735733 139741884 + 136844415 136847345 + 389813 C9J069 ABBA01022724;ABBA01022725;AL355987;AMYH02021912;AMYH02021913;NM_001080482 C9J069;NP_001073951 Hs.495485 uncharacterized protein C9orf172 protein-coding HGNC:37284 INFERRED 8694862 C9orf173-AS1 C9orf173 antisense RNA 1 9 9 9 q34.3 110660255 110663535 - 140144671 140147949 - 137250219 137253497 - 14702039 100129722 ABBA01022752;AK097764;AMYH02021928;BX255925;CB047271;LK939026;NR_038389 Hs.656347 ncrna ENSG00000275549 HGNC:51176 VALIDATED 1353607 C9orf35 chromosome 9 open reading frame 35 p21.2 414160 AL163192 protein-coding HGNC:23388 1352754 C9orf38 chromosome 9 open reading frame 38 p24.1 29044 Q9UI66 AF090921;AL353718;XM_927012;XM_939946 AAF24038;CAH74115;Q9UI66;XP_932105;XP_945039 Hs.676462 5022578;5022651;5037552 D11S2921;D1S1423;D8S2279 PRO0365 protein-coding HGNC:23398 1323541 C9orf41 chromosome 9 open reading frame 41 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; benzo[a]pyrene diol epoxide I 9 9 9 q21.13 48175365 48220811 - 77595936 77643326 - 74981020 75028410 - 737633;6480464;8554872 12477932 14702039;15164053;15489334;17207965;21832049;21890473;23000965;24250222 138199 B4DSD4;Q5T8U9;Q5T8V1;Q8N4J0 ABBA01033890;ABBA01033891;AK098661;AK299691;AL158825;AMYH02021007;AMYH02021008;BC034033;BX538061;BX647386;CH471089;NM_152420;XM_005251701;XM_005251702;XR_242567 AAH34033;ACE87004;ACE87692;ADQ32135;BAC05369;BAG61596;CAD97992;EAW62565;EAW62566;EAW62567;NP_689633;Q8N4J0;XP_005251758;XP_005251759 Hs.567688 2013194;2013200;2013204;2098622 REN77532;REN77535;REN77537;stSG602705 FLJ25795 OTTHUMP00000021491;UPF0586 protein C9orf41;hypothetical protein LOC138199 protein-coding ENSG00000156017 HGNC:23435 12958 PREDICTED 1350600 C9orf40 chromosome 9 open reading frame 40 INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; calcitriol 9 9 9 q21.13 48135332 48141635 - 77561499 77567802 - 74946583 74952886 - 6480464 12477932;14702039;15164053;15489334;17081983;21139048;21890473;24250222;8125298 55071 Q8IXQ3 ABBA01033888;AK000972;AK225349;AL158825;AMYH02021006;BC039588;BM126413;CH471089;NM_017998 AAH39588;BAA91449;EAW62564;NP_060468;Q8IXQ3 Hs.532296 1671572;2157825 SHGC-64302;WI-12436 FLJ10110;FLJ25795 OTTHUMP00000021490;hypothetical protein LOC55071;uncharacterized protein C9orf40 protein-coding ENSG00000135045 HGNC:23433 12957 VALIDATED 8699321 C9orf41-AS1 C9orf41 antisense RNA 1 9 q21.13 77567870 77612298 + 12477932 101927380 AL158825;BC043649;BI552900;HG502141;NR_121183;XR_242626;XR_250486;XR_252595 Hs.257556 ncrna HGNC:51188 VALIDATED 1322222 C9orf24 chromosome 9 open reading frame 24 This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 9 9 9 p13.3 34310522 34329350 - 34379017 34397898 - 34379019 34397899 - 6480464 12029067;12477932;14702039;15242845;15862967;17207965;19213785;8125298;8401585;8889548 84688 H0Y454;Q5T5A1;Q8NCR6 AA338648;ABBA01065012;AF367474;AK058087;AK094751;AK225981;AL356494;AMYH02019445;AMYH02019446;AW961020;BC022084;BC029484;BI561111;CB854584;CH471071;NM_001252195;NM_032596;NM_147168;NM_147169;XM_005251616;XM_005251617;XM_005251618;XM_006716881;XM_006716882;XM_006716883;XM_006716884 AAH22084;AAH29484;AAK53410;ADQ31579;BAB71657;BAC04412;EAW58456;EAW58457;EAW58458;EAW58459;NP_001239124;NP_115985;NP_671697;NP_671698;Q8NCR6;XP_005251673;XP_005251674;XP_005251675;XP_006716944;XP_006716945;XP_006716946;XP_006716947 Hs.50334 1686512;2141726;2151144 D9S1929;RH12896;RH66380 CBE1;MGC32921;MGC33614;NYD-SP22;SMRP1;bA573M23.4 OTTHUMP00000000492;OTTHUMP00000000493;OTTHUMP00000000494;OTTHUMP00000000495;OTTHUMP00000000498;ciliated bronchial epithelial protein 1;ciliated bronchial epithelium 1;spermatid-specific manchette-related protein 1;testes development-related NYD-SP22;testis development protein NYD-SP22;uncharacterized protein C9orf24 APPROVED protein-coding ENSG00000164972 HGNC:19919 12949 REVIEWED 1320010 C9orf3 chromosome 9 open reading frame 3 This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 9 9 9 q22.32 67929905 68290531 + 97488886 97849500 + 94726604 95087218 + 737633;6480464;8554872 12477932 14702039;15164053;15342556;15489334;15687497;16344560;20379614;20932654;22544366;22632968;22885925;23251661 84909 B4DKT1;B4DQU3;B4DU39;H0Y7A8;H0Y7M4;H0YCM2;Q8N6M6;X6RBX4 ABBA01043625;ABBA01043626;ABBA01043627;ABBA01043628;ABBA01043629;ABBA01043630;ABBA01043631;ABBA01043632;AF043896;AF043897;AI982632;AJ560639;AK027581;AK057450;AK098242;AK296699;AK296782;AK298959;AK300486;AL157936;AL353768;AL354893;AL807757;AMYH02021261;AMYH02021262;AMYH02021263;AMYH02021264;BC020194;BC029616;BP274281;BQ448239;BX099259;BX648970;CH471174;DA222106;DA521148;NG_027833;NM_001193329;NM_001193331;NM_032823;XM_005252284;XM_006717306;XM_006717307 AAH20194;AAH29616;BAB55210;BAB71491;BAG59293;BAG59360;BAG61055;BAG62201;CAD90259;EAW92618;EAW92619;EAW92620;EAW92621;EAW92622;EAW92623;NP_001180258;NP_001180260;NP_116212;Q8N6M6;XP_005252341;XP_006717369;XP_006717370 Hs.434253 1643729;1652635;1664228;1666640;1666642;1667359;1668770;1676738;1680343;1680541;1707870;1708772;1715913;1719135;1755639;1773170;1774871;1779130;1780234;1849228;1850109;1850111;2128733;2129198;2135688;2140064;2154784;2165411;2165413;2167363 A006I15;D9S792;G09308;G20840;G29150;RH122691;RH123285;RH16396;RH18210;RH35946;RH41810;RH44616;RH45578;RH47885;RH47933;RH80162;RH80732;SGC35135;SHGC-142492;SHGC-154697;SHGC-32587;SHGC-33390;SHGC-33990;SHGC-35212;SHGC-81622;SHGC-82173;STS-N52510;STS-T91788;U57798;U57803 AP-O;APO;C90RF3;FLJ14675;FLJ40923;FLJ55832 AOPEP;ONPEP;OTTHUMP00000021698;OTTHUMP00000021700;OTTHUMP00000021701;OTTHUMP00000021702;aminopeptidase O APPROVED protein-coding ENSG00000148120 HGNC:1361 07476 REVIEWED 1606405 C9orf47 chromosome 9 open reading frame 47 FOUND IN extracellular region (inferred); INTERACTS WITH carmustine; temozolomide; torcetrapib 9 9 9 q22.1 62188427 62193706 + 91605778 91611057 + 88990863 88996142 + 6480464 12477932;14702039;15164053;22331829 286223 Q5SQD6;Q6ZRZ4 ABBA01004617;AK094842;AK127854;AK130650;AL831887;AMYH02021184;AY333281;BC136895;BC144432;CK905850;NM_001001938;NM_001142413 AAI36896;AAI44433;AAP93864;BAC04433;BAC87162;NP_001001938;NP_001135885;Q6ZRZ4 Hs.585118 C9orf108;FLJ37523;bA791O21.3 OTTHUMP00000021610;OTTHUMP00000215692;hypothetical protein LOC286223;uncharacterized protein C9orf47 protein-coding ENSG00000186354 HGNC:23669 12962 VALIDATED 1343208 C9orf62 chromosome 9 open reading frame 62 INTERACTS WITH aflatoxin B1; silicon dioxide 9 9 9 q34.3 108748379 108751686 + 138235095 138238408 + 135343249 135346562 + 737633;6480464 12477932 157927 Q8N4C0 ABBA01030031;AL353615;AMYH02021867;BC034752;LN608317;NM_173520 AAH34752;NP_775791;Q8N4C0 Hs.559511 5094220 G54620 MGC35463;RP11-555H7.1 putative uncharacterized protein C9orf62 protein-coding ENSG00000178243 HGNC:28581 VALIDATED 2290029 C9orf51 chromosome 9 open reading frame 51 INTERACTS WITH pentachlorophenol (ortholog); titanium dioxide (ortholog) p13.1 6480464 647044 B1ANY3 AL390726;XM_001713954;XM_930041;XM_940136 Q5VWG5;XP_001714006;XP_935134;XP_945229 bA392E22.4 protein-coding HGNC:23678 1606874 C9orf50 chromosome 9 open reading frame 50 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q34.11 103025311 103033860 - 132374504 132383055 - 129612225 129620776 - 6480464 12477932;14702039;16344560;21382349;22041458;23934736 375759 Q5SZB4 ABBA01043938;ABBA01043939;AK093122;AL391056;AL590369;AMYH02021741;AW468767;AW958564;AW958565;BC112353;CH471090;DB024443;JF442034;NM_199350 AAI12354;AEO12129;EAW87891;EAW87892;NP_955382;Q5SZB4 Hs.124223 FLJ35803 OTTHUMP00000022341;hypothetical protein LOC375759;uncharacterized protein C9orf50 protein-coding ENSG00000179058 HGNC:23677 14197 VALIDATED 1350435 C9orf56 chromosome 9 open reading frame 56 414154 HGNC:20950 1345654 C9orf73 chromosome 9 open reading frame 73 q22.31 14702039 286371 AK095132 Hs.711420 1339396;1713753;1773150 D9S1098;D9S1842;RH120763 protein-coding HGNC:27862 1345519 C9orf43 chromosome 9 open reading frame 43 ASSOCIATED WITH Melanoma (inferred) 9 9 9 q32 86820622 86839482 + 116172924 116191964 + 113410644 113429684 + 737633;8554872 12477932 15164053;15489334;16344560;20583170;21832049 257169 B2R9P8;B4DX97;Q8TAL5 ABBA01042684;AK301872;AK313867;AL137066;AMYH02021510;BC026884;BC033037;CH471090;DB048582;DB057586;NM_001278629;NM_001278630;NM_152786;XM_005251884;XM_005251885 AAH26884;AAH33037;BAG36595;BAG63309;EAW87383;EAW87384;EAW87385;EAW87386;NP_001265558;NP_001265559;NP_689999;Q8TAL5;XP_005251941;XP_005251942 Hs.632691 1788640 RH18148 MGC17358 OTTHUMP00000021960;OTTHUMP00000021961;hypothetical protein LOC257169;uncharacterized protein C9orf43 protein-coding ENSG00000157653 HGNC:23570 12959 VALIDATED 1322751 C9orf64 chromosome 9 open reading frame 64 INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; formaldehyde 9 9 9 q21.32 57124248 57142674 - 86553226 86571665 - 83938311 83956754 - 737633;6480464 12477932 14702039;15164053;15489334;19322201;20354154;20881960;21139048;21963094;22505724;24911101 84267 Q5T6V5;Q5T6V6;Q5T6V7 ABBA01034011;ABBA01034012;AK090882;AL354733;AMYH02021123;BC004407;BC137461;BC137462;BX116423;CH471089;DB464056;NM_032307;XM_005252271 AAI37462;AAI37463;BAC03538;EAW62672;EAW62673;EAW62674;NP_115683;Q5T6V5;XP_005252328 Hs.208914 1786918;5037552 D8S2279;SHGC-112554 MGC10999;RP11-575L7.5 OTTHUMP00000021562;OTTHUMP00000021563;UPF0553 protein C9orf64;hypothetical protein LOC84267 protein-coding ENSG00000165118 HGNC:28144 12969 611342 VALIDATED 1347775 C9orf66 chromosome 9 open reading frame 66 INTERACTS WITH aflatoxin B1; coumestrol 9 9 9 p24.3 127940 130725 - 213108 215893 - 213108 215893 - 6480464 12477932;14702039;15164053;18976975 157983 Q0VG94;Q5T8R8 ABBA01065460;AK055720;AL158832;AMYH02019023;BC111423;NG_017007;NM_152569 AAI11424;BAB70995;NP_689782;Q5T8R8 Hs.190877 5021872;5493463 UniSTS:486505;sY3084 FLJ31158;RP11-59O6.1 OTTHUMP00000022749;hypothetical protein LOC157983;uncharacterized protein C9orf66 protein-coding ENSG00000183784 HGNC:26436 12971 VALIDATED 1342941 C9orf57 chromosome 9 open reading frame 57 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 6-propyl-2-thiouracil (ortholog); ammonium chloride (ortholog) 9 9 9 q21.13 45239014 45248238 - 74666275 74687728 - 72051381 72060605 - 737633;6480464 12477932 15164053;15489334 138240 A1L456;Q5W0N0 ABBA01033851;AL138751;AL583829;AMYH02020973;BC036255;BC044620;BC053956;BC130404;BC144273;CH471089;NM_001128618 AAI30405;AAI44274;EAW62527;NP_001122090;Q5W0N0 Hs.371235 1683918 RH92915 RP11-346E17.3 OTTHUMP00000021462;hypothetical protein LOC138240;uncharacterized protein C9orf57 protein-coding ENSG00000204669 HGNC:27037 VALIDATED 1602828 C9orf72 chromosome 9 open reading frame 72 Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 9 9 9 p21.2 27474665 27501967 - 27546543 27573864 - 27546545 27573866 - 6480464;7240710;8699517 11015796;12477932;12672552;14702039;15164053;15489334;16495328;19322201;19734901;20301623;20423481;20562461;20801717;20801718;21832049;21890473;21944778;21944779;22083254;22181065;22216764;22228244;22300873;22300876;22305801;22343411;22344582;22366791;22366792;22366793;22366794;22366795;22399792;22399793;22406228;22410647;22418734;22426854;22445326;22459598;22483864;22487746;22499346;22502998;22550220;22564974;22571983;22650353;22673113;22678362;22692064;22702520;22708871;22721568;22727276;22732773;22739338;22742426;22766072;22766732;22807188;22815561;22840558;22843265;22875086;22875087;22936364;22959728;22964910;22964911;22985429;23012445;23035801;23036583;23063644;23084342;23088937;23100398;23107433;23111906;23116878;23117491;23160421;23254636;23261768;23264878;23273600;23284068;23338682;23352322;23381195;23393093;23413259;23421625;23423380;23434116;23435409;23437264;23463871;23473366;23551834;23555189;23558488;23587638;23588422;23588498;23597494;23602568;23720273;23731538;23771489;23818065;23845100;23869403;23870417;23894576;23962495;24011653;24027057;24064469;24077574;24080172;24081456;24085347;24090760;24121957;24126854;24169076;24170860;24185425;24212388;24248382;24269022;24309270;24355526;24363131;24378086;24387985;24387986;24445580;24521566;24549040;24598541;24615479;24733620;24756204;24817207;24931836;25081482;25103406 203228 Q96LT7;Q9NUW0 ABBA01065127;AK001971;AK057806;AK291425;AL451123;AL832229;AL832467;AMYH02019355;AMYH02019356;BC020851;BC039112;BC068445;BG722125;CH471071;JN681271;NG_031977;NM_001256054;NM_018325;NM_145005;XM_006716739 AAH68445;ADR82709;AET41697;BAA92009;BAB71583;BAF84114;EAW58558;EAW58559;EAW58560;EAW58561;NP_001242983;NP_060795;NP_659442;Q96LT7;XP_006716802 Hs.493639 1298120;1298167;1337019;1681209;2141327;2175677 D9S1122;D9S301;D9S922;RH66179;SGC32711;SHGC-36542 ALSFTD;FTDALS;MGC23980;RP11-27J8.2 OTTHUMP00000021170;OTTHUMP00000021171;OTTHUMP00000021172;hypothetical protein LOC203228;uncharacterized protein C9orf72 APPROVED protein-coding ENSG00000147894 HGNC:28337 12975 105550;614260 VALIDATED 1349018 C9orf69 chromosome 9 open reading frame 69 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN positive regulation of cell proliferation; positive regulation of viral process; FOUND IN cytoplasm; nucleus; INTERACTS WITH diuron (ortholog) 9 9 9 q34.3 109524655 109528958 - 139006427 139010731 - 136114581 136118885 - 6480464 12477932;14702039;16344560;21667337;24250222 90120 H0YKC6;H0YL14;H3BQM9;H3BVA3 ABBA01030058;ABBA01030059;AK023162;AK091349;AL138781;AMYH02021893;BC009229;BC013282;BC014304;BC021231;BC064970;BC084549;BC092490;BC111053;DA685158;NM_001256526;NM_152833;XR_244778 H0YL14;NP_001243455;NP_690046 Hs.287411 2171721 STS-T50077 bA83N9.1 herpes virus UL25-binding protein;hypothetical protein LOC90120;uncharacterized protein LOC90120 protein-coding ENSG00000238227 HGNC:31009 VALIDATED 1313051 C9orf78 chromosome 9 open reading frame 78 FOUND IN cytoplasm; nucleus; INTERACTS WITH atrazine; paracetamol; zinc atom 9 9 9 q34.11 103240592 103248602 - 132589564 132597572 - 129827285 129835293 - 6480464 11042152;12097419;12477932;14702039;15164053;15302935;15489334;15592455;16169070;16712791;17081983;18029348;18654987;20360068;21044950;21139048;21832049;21900206;22412018;22863883;24816145;8889548 51759 Q9NZ63 ABBA01043951;AF151054;AF218421;AK057004;AK097577;AL137549;AL158207;AMYH02021746;AY632862;BC007664;BC017570;BC037173;BU674575;CB128496;CH471090;NM_016520 AAF36140;AAF37561;AAH07664;AAH17570;AAT46619;BAG51840;CAB70805;EAW87909;EAW87910;NP_057604;Q9NZ63 Hs.278429 1762657;2114910;2152953;5015619;5015961;5022322;5024756;5037552 D11S2560;D11S3114;D15S1477;D8S2279;RH71165;RH80030;SHGC-146454;STS-W80591 HCA59;HSPC220;bA409K20.3 OTTHUMP00000022352;hepatocellular carcinoma-associated antigen 59;uncharacterized protein C9orf78 protein-coding ENSG00000136819 HGNC:24932 10803 VALIDATED 1353846 C9orf9 chromosome 9 open reading frame 9 FOUND IN cytoplasmic microtubule; INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 9 9 9 q34 106296025 106307156 + 135754282 135765419 + 132878895 132890031 + 6480464 12477932;14702039;15164053;15489334;16169070;16303743;21048031;21900206;22505724;24816145 11092 Q6ZNY5;Q96E40 ABBA01032479;AJ011375;AK075259;AK130389;AL445645;AMYH02021817;BC012940;CH471090;CQ783377;CR457210;NM_018956;XM_005272164 AAH12940;ADZ15821;BAC11503;BAC85340;CAB66158;CAF86580;CAG33491;EAW88018;EAW88019;EAW88020;NP_061829;Q96E40;XP_005272221 Hs.62595 1771984;5014051;5015619;5015879;5016478;5020881;5020948;5022578;5037552 2008;D11S3114;D1S1423;D8S2278;D8S2279;G35510;GDB:314949;GDB:434012;L17709 FLJ26879 OTTHUMP00000022441;OTTHUMP00000022442;Rsb-66 protein;Rsb66 homolog;uncharacterized protein C9orf9 protein-coding ENSG00000165698 HGNC:1367 12986 PROVISIONAL 1351188 C9orf84 chromosome 9 open reading frame 84 INTERACTS WITH 17beta-estradiol; copper atom; copper(0) 9 9 9 q31.3 84947957 85044839 - 114448901 114557556 - 111686519 111795276 - 6480464 12477932;14702039;15164053;16344560;18812090;21771883 158401 A6PVK7;Q5VXU9;Q6ZU10 ABBA01042723;ABBA01042724;ABBA01042725;ABBA01042726;AK057341;AK126055;AL135787;AL354877;AL356491;AL704322;AL833535;AMYH02021478;BC041858;BC112357;BC144680;CH471105;DB066382;DB088747;NM_001080551;NM_173521;NR_109816;XM_005251738;XM_006716974;XM_006716975;XM_006716976;XM_006716977 AAI12358;BAB71436;BAC86417;EAW59088;EAW59089;EAW59090;NP_001074020;NP_775792;Q5VXU9;XP_005251795;XP_006717037;XP_006717038;XP_006717039;XP_006717040 Hs.428209 1663193;2184447 G31134;SGC38204 FLJ32779;FLJ44067;MGC43661 OTTHUMP00000021923;OTTHUMP00000161933;OTTHUMP00000196461;hypothetical protein LOC158401;uncharacterized protein C9orf84 protein-coding ENSG00000165181 HGNC:26535 12982 VALIDATED 1314456 C9orf89 chromosome 9 open reading frame 89 FOUND IN Golgi apparatus; nucleus; INTERACTS WITH atrazine; benzo[a]pyrene; copper(2+) sulfate 9 9 9 q22.31 66300177 66317285 + 95858450 95875565 + 93096168 93113283 + 737633;6480464 12477932 14702039;15164053;15489334;15637807;23633586 84270 Q96LW7 ABBA01018603;AK057716;AK091611;AK097977;AK128259;AL451065;AMYH02021233;AW207349;BC004500;BC038856;BC042201;BC091476;CH471089;NM_032310;XM_005252273;XM_005252274;XR_428540 AAH04500;AAH38856;BAB71550;EAW62850;EAW62851;EAW62852;EAW62853;EAW62854;EAW62855;NP_115686;Q96LW7;XP_005252330;XP_005252331 Hs.434213 1677564;1728761;1729575;1729898;5022200;5022578;5022651;7184633 D11S2921;D1S1423;D9S119;D9S12;G54480;L18426;RH65765 MGC110898;MGC11115;bA370F5.1 Bcl10-interacting protein with CARD;BinCARD;OTTHUMP00000021671;bcl10-interacting CARD protein protein-coding ENSG00000165233 HGNC:28148 12985 VALIDATED 1605873 C9orf85 chromosome 9 open reading frame 85 INTERACTS WITH calcitriol; cyclosporin A; ethyl methanesulfonate 9 9 9 q21.13 45099152 45161076 + 74526190 74588373 + 71911507 71973457 + 6480464 12477932;14702039;15164053;15489334;16712791;17207965 138241 E9PN32;F6X0R3;H3BLX8;Q96MD7 ABBA01033843;ABBA01033844;ABBA01033845;ABBA01033846;AK307186;AK311206;AL138751;AMYH02020971;BC010179;BC028019;BC052375;BQ020559;BQ431408;BX104173;CB113688;CH471089;NM_182505 AAH52375;ADQ32587;EAW62523;EAW62524;EAW62525;EAW62526;NP_872311;Q96MD7 Hs.534190 1773327;2140991;2175063;5015861;5022425;5022578;5022651;5093240;7185938 A009K05;D10S16;D11S2921;D1S1423;D22S296;G32602;RH69359;WI-13979 MGC61599;RP11-346E17.2 OTTHUMP00000021459;OTTHUMP00000021460;OTTHUMP00000021461;hypothetical protein LOC138241;uncharacterized protein C9orf85 protein-coding ENSG00000155621 HGNC:28784 12983 VALIDATED 1321274 C9orf94 chromosome 9 open reading frame 94 p22.1 12477932;14702039;15164053;15489334 206938 AK092602;AK123028;AK128724;AL158150;AL591423;BC100788;BC100789;BC100790;BX640951;NM_001040272 AAI00789;AAI00790;AAI00791;BAC03925;BAC87592;CAE45975;CAM13086;CAM14351;CAM14352;NP_001035362;Q496M7;Q496M8;Q6MZQ3;Q6ZQU1 Hs.643388 FLJ35283;MGC118803;MGC118805 protein-coding HGNC:26642 12989 1349109 C9orf92 chromosome 9 open reading frame 92 9 9 9 p22.3 16131238 16203619 - 16203933 16276311 - 16203935 16276313 - 11329013;15164053 100129385 A6NGG3;H7C3I8 ABBA01065260;AI167486;AL513424;AMYH02019220;AW779702;BG207459;NM_001271829;NR_073471;XM_006716713 A6NGG3;NP_001258758;XP_006716776 Hs.586441 1340310;1691126;1729662;1778540;1778647;7186427 AFM051xd6;D8S209;D9S156;D9S1917;D9S908 Em:AL513424.1 putative uncharacterized protein C9orf92 protein-coding ENSG00000205549 HGNC:19054 VALIDATED 1352724 CA10 carbonic anhydrase X This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21.33 46168954 46698633 - 49707674 50237377 - 51630313 52160017 - 1580863;6480464;8554872 11230166;11311946;12044474;12477932;12500287;12975309;15328829;15489334;15499993;16344560;17081983;19172221;19240061;20379614;21102462;23400010;24407380;8673298;9921901 56934 B4DGL6;I3L0J7;I3L375;I3NI54;Q68D28;Q9NS85 AB001597;AB036836;ABBA01041266;ABBA01041267;ABBA01041268;ABBA01041269;ABBA01041270;AC002090;AC004108;AC005883;AC006083;AC016473;AC092713;AF288385;AK294652;AK313001;AL161812;AMYH02033623;AMYH02033624;AMYH02033625;AW135066;AY358509;BC020577;BC029865;BC047456;BC068462;CH471109;CR749607;DA110822;DA128892;DA518921;KC877658;KF456288;KF456289;KF456292;KF511488;NM_001082533;NM_001082534;NM_020178;XM_005257523 AAH20577;AAH29865;AAH47456;AAH68462;AAK11974;AAQ88873;ADZ15875;BAB00615;BAB46928;BAG35837;BAG57827;CAB82105;CAH18402;EAW94558;NP_001076002;NP_001076003;NP_064563;Q9NS85;XP_005257580 Hs.463466 1335200;1336122;1340733;1341327;1651864;1661830;1665711;1673878;1689320;1695280;1708696;1718705;1722763;1754697;2150280;2181411;2182138;2218326;7186585 A002U30;A008O45;CA10_4487;D17S1388E;D17S1820;D17S2122;D17S809;D17S941;D17S956;G60320;RH11759;RH124024;RH91156;SHGC-133050;SHGC-62998;SHGC-81490;STS-N26826;WI-22496 CA-RP X;CA-RPX;CARP X;CARPX;HUCEP-15 carbonic anhydrase-related protein 10;carbonic anhydrase-related protein X;cerebral protein 15;cerebral protein-15 APPROVED protein-coding ENSG00000154975 HGNC:1369 05224 604642 REVIEWED 1322168 CA13 carbonic anhydrase XIII Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008] 8 8 8 q21.2 82162764 82201350 + 86157716 86196302 + 85245487 85284073 + 1580863;6480464;8554872 12477932;14600151;14702039;15489334;15836783;16344560;17207965;18336313;23720494 377677 Q8N1Q1 ABBA01004009;ABBA01004010;AC011773;AC025800;AK095314;AMYH02018351;BC052602;CH471068;DB287770;NM_198584 AAH52602;ADQ32140;BAC04528;EAW87128;NP_940986;Q8N1Q1 Hs.127189 1675969;2126295;5015861;5022425;5037552;7185938 D10S16;D22S296;D8S2279;RH99059;WI-16869 CA-XIII;CAXIII;FLJ36434;FLJ37995;MGC59868 OTTHUMP00000227972;carbonate dehydratase XIII;carbonic anhydrase 13 APPROVED protein-coding ENSG00000185015 HGNC:14914 12992 611436 VALIDATED 1320302 CA1 carbonic anhydrase I Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 8 8 8 q21.2 82245509 82295378 - 86240458 86290342 - 85328229 85378113 - 1580863;6480464;8554872 11392054;11680594;12009884;12477932;14675565;15342556;15489334;15836783;15837325;1602151;16870440;17192395;17314045;17464559;18029348;1916821;19536309;20624682;21143847;2121614;21900206;21988832;22360420;22416960;22619369;22996014;23213568;23218470;23327700;23339426;23356845;23389367;23557951;23720494;23774970;23798711;23859774;23867389;23892086;23993330;24289818;24878360;2511043;3088232;3104879;3124707;406674;4207120;4217196;4625868;4632246;6781336;7574487;7866410;804171;827930;9879596 759 E5RFE7;E5RFL2;E5RG43;E5RG81;E5RGU8;E5RH81;E5RHP7;E5RHS7;E5RIF9;E5RII2;E5RJF6;E5RJI8;H0YBE2;P00915;V9HWE3 ABBA01004009;AC025800;AI802646;AMYH02018351;AMYH02018352;BC027890;BP261967;BU655910;BU656154;BU658617;BU659301;BU659695;BU661390;BU663330;BU664306;BU665210;CH471068;EU794595;JC427562;M33987;NG_016221;NM_001128829;NM_001128830;NM_001128831;NM_001164830;NM_001291967;NM_001291968;NM_001738;X05014 AAA51910;AAH27890;ABM81856;ABM85017;ACJ13649;CAA28663;CDM63663;EAW87129;EAW87130;EAW87131;EAW87132;NP_001122301;NP_001122302;NP_001122303;NP_001158302;NP_001278896;NP_001278897;NP_001729;P00915 Hs.23118 1723615;2148816;2217094 CA1_3942;RH118415;SHGC-31642 CA-I;CAB;Car1;HEL-S-11 OTTHUMP00000227973;OTTHUMP00000227974;OTTHUMP00000227976;OTTHUMP00000227977;OTTHUMP00000227978;OTTHUMP00000227979;OTTHUMP00000227981;carbonate dehydratase I;carbonic anhydrase 1;carbonic anhydrase B;carbonic dehydratase;epididymis secretory protein Li 11 APPROVED protein-coding ENSG00000133742 HGNC:1368 00265 114800 REVIEWED 6898050 CA15P1 carbonic anhydrase XV, pseudogene 1 22 19018766 19022784 - 16083424 100996435 ABBA01005426;AC000095 pseudo HGNC:44364 MODEL 1312125 C9orf91 chromosome 9 open reading frame 91 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 9 9 9 q32 88021359 88056348 + 117373706 117408703 + 114611426 114646423 + 737633;6480464 12477932 11076863;11230166;14702039;15489336;16344560;16381901;19322201;21988832;8619474;9110174 203197 Q5VZI3 ABBA01042663;ABBA01042664;ABBA01042665;AF038174;AK095364;AK098022;AK289383;AL160275;AL557166;AL834412;AMYH02021519;BC010029;BC019913;BC062550;BC107133;BC107134;BI553818;BQ049157;BX649023;CH471090;DB199443;NM_153045;XM_005251789;XM_005251790;XM_005251791;XM_006716997 AAH19913;AAH62550;AAI07134;AAI07135;BAC04537;BAF82072;CAD39074;CAL37803;EAW87426;EAW87427;EAW87428;NP_694590;Q5VZI3;XP_005251846;XP_005251847;XP_005251848;XP_006717060 Hs.522357 1662970;1666304;1771976;1787058;2152588;5020948;5022200 CHLC.GGAT3C11;G35303;G35510;L18426;NIB917;RH11942;SHGC-154091 DKFZp547P234;FLJ38045;MGC129868;MGC129869;RP11-402G3.2 OTTHUMP00000021980;OTTHUMP00000021981;transmembrane protein C9orf91 protein-coding ENSG00000157693 HGNC:24513 12988 VALIDATED 1348503 CA11 carbonic anhydrase XI Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46006137 46014315 - 49141272 49149451 - 48637946 48646374 - 1580863;6480464;8554872 10350627;11311946;12044474;12477932;12975309;15489334;16335952;18450452;21060863;21926972;23300138;9878252;9878543 770 M0QXK8;O75493 AB018195;ABBA01032978;AC008888;AF050106;AF067662;AMYH02036305;AMYH02036306;AY358967;BC002662;BT007265;BX440526;CH471177;CR541772;NM_001217;XR_243956 AAC99689;AAD08802;AAH02662;AAP35929;AAQ89326;ACE86910;ACE87597;BAA36840;CAG46571;EAW52376;EAW52377;EAW52378;NP_001208;O75493 Hs.428446 5112293 RH103095 CA-RP II;CA-XI;CARP XI;CARP-2;CARP2;CARPX1 carbonic anhydrase-related protein 11;carbonic anhydrase-related protein 2;carbonic anhydrase-related protein XI APPROVED protein-coding ENSG00000063180 HGNC:1370 05225 604644 REVIEWED 6897921 CA15P3 carbonic anhydrase XV, pseudogene 3 22 q11.21 21708005 21714771 + 16083424 100996556 XM_003846306 XP_003846354 carbonic anhydrase 15-like protein-coding HGNC:44363 6902306 CA15P2 carbonic anhydrase XV, pseudogene 2 22 22 22 q11.21 2871067 2874810 - 20485854 20487364 - 18635987 18637497 - 16083424 440795 ABBA01009187;AC023490;AMYH02038060;NG_029357 1683523;1767133;1767135;2112410 A001T42;D22S1611;G19640;RH25381 pseudo HGNC:14916 INFERRED 1317436 CA14 carbonic anhydrase XIV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008] 1 1 1 q21 123345949 123353209 + 150229554 150237478 + 150257159 150265078 + 1580863;6480464 10512682;11172051;12028451;12477932;12611920;12975309;14578124;14702039;15489334;16710414;17881426;20170095;20379614;21988832 23632 A8K3J4;Q9ULX7;U3KPU6;U3KQH0 AB025904;ABBA01049330;AC242988;AK074765;AK290609;AK295341;AK315469;AL138795;AY358689;BC034412;BT020054;CH471121;NM_012113;XM_005245059;XM_005245060;XM_006711259;XM_006711260;XM_006711261 AAH34412;AAQ89052;AAV38857;ABM84715;ABM92237;BAA85002;BAC11191;BAF83298;BAG37855;BAG58312;CAI22810;EAW53570;EAW53571;EAW53572;EAW53573;EAW53574;NP_036245;Q9ULX7;XP_005245116;XP_005245117;XP_006711322;XP_006711323;XP_006711324 Hs.528988 1652765;1655085;2109103 CA14_9388;SGC31751;SHGC-32182 CA-XIV;CAXiV OTTHUMP00000014540;carbonate dehydratase XIV;carbonic anhydrase 14;carbonic dehydratase APPROVED protein-coding ENSG00000118298 HGNC:1372 05320 604832 REVIEWED 1344775 CA5AP1 carbonic anhydrase VA pseudogene 1 16 16 p11.2 29630106 29648664 - 29618785 29637343 - 15837316;7490083 764 ABBA01013123;ABBA01013124;ABBA01013125;ABBA01013126;ABBA01013127;AC009086;AC243806;NG_027849;XM_113281 CA5P APPROVED pseudo HGNC:1379 INFERRED 1315327 CA12 carbonic anhydrase XII Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014] 15 15 15 q22 40494364 40552718 - 63615730 63674326 - 63323531 63381876 - 6480464;7240710;8554872;8699517 10512682;10611263;10666387;11083462;11101628;11238049;11420383;11493685;11680594;12477932;12676895;12854129;12923247;14578124;14702039;15489334;15849821;16169070;16416108;18029348;18322268;18336315;18451179;19291313;20132413;20215053;20398423;20434230;20509747;21035102;21040567;21139048;21184099;21278619;21900206;22172588;22439015;22944692;23348702;23383108;23910904;24878360;8524854;9636197;9770531 771 B3KUB4;O43570 ABBA01038912;ABBA01038913;AC087525;AF037335;AF051882;AK000158;AK096845;AK315769;AMYH02030584;BC000278;BC001012;BC011691;BC023981;BC087838;BM994285;BQ440047;BT006656;BU167720;BU944741;CA309380;CH471082;DA509400;DA546357;KF495770;NG_028022;NM_001218;NM_001293642;NM_206925 AAC39789;AAC63952;AAH00278;AAH01012;AAH11691;AAH23981;AAP35302;ABM84114;ABM87510;ACE86537;ACE86542;ACE87216;ACE87223;BAA90981;BAG38121;BAG53376;EAW77646;EAW77647;EAW77648;EAW77649;EAW77650;NP_001209;NP_001280571;NP_996808;O43570 Hs.210995 1644386;1760859;1763507;1848736;1853234;2107905;2185289 CA12_8238;D15S1357;RH47249;SHGC-144530;SHGC-147205;SHGC-32776;SHGC-36693 CA-XII;CAXII;FLJ20151;HsT18816 OTTHUMP00000163786;OTTHUMP00000163787;carbonate dehydratase XII;carbonic anhydrase 12;carbonic dehydratase;tumor antigen HOM-RCC-3.1.3 APPROVED protein-coding HGNC:1371 04464 143860;603263 REVIEWED 6481393 CA5B-AS1 CA5B antisense RNA 1 100873927 AC096510 APPROVED miscrna HGNC:40115 1353547 CA3 carbonic anhydrase III, muscle specific Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008] 8 8 8 q21.2 82356136 82366348 + 86351056 86361269 + 85438827 85449040 + 1580863;6480464;8554872 10845711;11024467;11976500;120192;12171926;12477932;12484342;12745799;1361281;1414196;14702039;15489334;16344560;17207965;1764784;18322545;18444244;1905166;19301202;1971453;22797148;23049597;23720494;23824909;23981757;2824285;3000276;3086182;3099285;3106467;3110380;3122635;3930440;6119426;6221502;6410007;6770531;6784712;7574487;8506074;8633035;9651514;9890711 761 E5RHI4;P07451;V9HWA3 ABBA01004009;AC084734;AJ006473;AK096880;AK300670;AK300677;AK313254;AMYH02018352;BC004897;CH471068;DA421884;EU794596;M29452;M29453;M29454;M29455;M29456;M29457;M29458;NM_005181 AAA52293;AAH04897;ACJ13650;ADQ31847;BAG36064;BAG53390;BAG62355;BAG62360;CAA07056;EAW87133;EAW87134;NP_005172;P07451 Hs.82129 1712218;1722435;1741625;2157558;2168883;5022592 D8S1367E;G54016;G60292;GDB:181594;SHGC-35614;WI-16407 CA-III;CAIII;Car3;FLJ36434 HEL-S-167mP;OTTHUMP00000227990;carbonate dehydratase III;carbonic anhydrase 3;epididymis secretory sperm binding protein Li 167mP APPROVED protein-coding ENSG00000164879 HGNC:1374 00260 114750 REVIEWED 737257 CA2 carbonic anhydrase II The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] 8 8 8 q22 82381194 82398781 + 86376131 86393721 + 85463902 85481492 + 1600698;1600710;1580863;1300048;6480464;6907045;7240710;8554872;8699517 10977795;1301935 10231836;10333352;10423017;10811634;10820026;10821857;11063570;11076507;11264157;114507;11457932;11606574;11956656;12056894;12138085;12171926;12411514;12477932;12501217;12566520;12826902;12933803;14567693;14578124;14675051;14675565;14718574;14736710;14760703;15049705;15062553;15218065;15300855;1542674;15453828;15489334;15667203;15836783;15837316;15837325;15952740;15990874;1602151;16106378;16169070;16196087;16265785;16344560;16475831;16687407;16825953;16996812;17202139;17319692;17319695;17363915;17631639;17881426;18029348;18060825;18083150;18189416;18247480;18323598;18539591;18580434;18942852;18976975;19012038;19034380;19056867;1925679;19269136;1928091;19371798;19407386;19415900;19520834;19583303;19615732;19634894;19686046;1977133;20000378;20025241;20081808;20170095;20297840;20360068;20398423;20445237;20445238;20509747;20578724;20634585;20637176;20693695;20849852;21139048;21145461;21145876;2117271;2121671;2123360;21243755;21282642;21543742;21680735;21890473;21988105;22001224;22192857;22386980;22416960;22732064;22878862;23030313;23098192;23181366;23215152;23360090;23674848;23720494;23727877;23737439;23953824;24036123;24813993;24878360;2850697;3000449;3081869;3107918;3108857;3121496;3151019;3151020;3221988;3925334;4207120;4621826;4624444;6407977;6817747;7574487;7627193;7930522;8127074;8128957;823150;8460098;8834238;9143915;9150731;9205766;9336790;9453381;9541386;9774471;9890926 760 E5RID5;E5RK37;P00918;V9HW21 ABBA01004009;AC084734;AF015039;AK312978;AMYH02018352;BC011949;BC035424;CD013933;CH471068;CR536526;CR541875;DA431650;FJ224289;J03037;M36532;M77178;M77181;NG_007287;NM_000067;NM_001293675;S69526;X03251;Y00339 AAA51908;AAA51909;AAA51911;AAB30170;AAH11949;ABM82246;ABM85430;ACI45981;BAG35815;CAA27012;CAA68426;CAG38763;CAG46673;EAW87136;NP_000058;NP_001280604;P00918 Hs.155097 1694926;1722451;1852788;2114723;5109679 D8S1418E;D8S1912;G44354;G60153;RH11468 CA-II;CAC;CAII;Car2;HEL-76 OTTHUMP00000227991;carbonate dehydratase II;carbonic anhydrase 2;carbonic anhydrase B;carbonic anhydrase C;carbonic dehydratase;epididymis luminal protein 76 APPROVED protein-coding ENSG00000104267 HGNC:1373 02023 259730;611492 REVIEWED 1353429 CA4 carbonic anhydrase IV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008] 17 17 17 q23 54687198 54696791 + 58227302 58236907 + 60149941 60159546 + 1600730;1580863;6480464;7240710;8554872;8699517 15090652 10090333;10231836;11994299;12477932;1311094;14567693;15326289;15489334;15563508;16344560;17207965;17409381;17500595;17652713;17881426;18344446;1901414;19211803;20301590;20308551;20450258;20626030;20801516;2111324;2116168;21680735;21988832;22021688;23049597;23297198;24146379;24338019;24880201;6811592;7581389;7625839;7672351;8064130;8325641;8675662;8809084;8903383;8942978;9385361;9632745 762 K7EIH9;K7EKY5;K7ENI8;P22748 ABBA01035417;AC025048;AI990988;AK289715;AK298710;AMYH02033721;BC057792;BC069649;BC074768;CH471109;CR541766;DA113846;L10955;M83670;NG_012050;NM_000717;XM_005257639 AAA35625;AAA35626;AAA35630;AAH57792;AAH69649;AAH74768;ADQ32513;BAF82404;BAG60866;CAG46565;EAW94361;EAW94362;EAW94363;NP_000708;P22748;XP_005257696 Hs.89485 1337712;1339975;1676488;2180226 D17S807;D17S808;RH71355;RH79679 CA-IV;CAIV;Car4;RP17 carbonate dehydratase IV;carbonic anhydrase 4;carbonic dehydratase IV APPROVED protein-coding ENSG00000167434 HGNC:1375 00261 114760;600852 REVIEWED 1323700 CA6 carbonic anhydrase VI The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008] 1 1 1 p36.2 8114641 8143865 + 9005893 9035151 + 8945834 8975092 + 1580863;6480464;8554872 10207193;10415846;10523402;10705347;11303978;11304804;11553764;11875253;12477932;15342556;16502470;16710414;17499996;1899030;19199708;19721466;20379614;20631203;2113069;21631296;21712049;22198626;22366092;23652931;24040192;2433278;24722188;2505973;8429198;9439449;9691177;9784398 765 B4DUH8;F8W148;P23280;Q8N4G4 AB102863;AB103091;ABBA01035528;ABBA01035529;ABBA01035530;ABBA01035531;AF128418;AK300652;AL139415;AMYH02000227;AMYH02000228;BC034350;BP333541;BP334640;BX282262;CB956732;CH471130;M57892;NG_033975;NM_001215;NM_001270500;NM_001270501;NM_001270502 AAA51892;AAF22565;AAH34350;ADZ15992;BAD89397;BAD89434;BAG62340;EAW71606;NP_001206;NP_001257429;NP_001257430;NP_001257431;P23280 Hs.100322 1745773;2129525 GDB:636125;SHGC-74181 CA-VI;MGC21256 GUSTIN;OTTHUMP00000001699;OTTHUMP00000242906;OTTHUMP00000242907;carbonate dehydratase VI;carbonic anhydrase 6;salivary carbonic anhydrase;secreted carbonic anhydrase APPROVED protein-coding ENSG00000131686 HGNC:1380 00264 114780 REVIEWED 1346033 CA5BP1 carbonic anhydrase VB pseudogene 1 ENCODES a protein that exhibits carbonate dehydratase activity (inferred); zinc ion binding (inferred); INVOLVED IN metabolic process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH acetylsalicylic acid; hydrogen peroxide; lead(0) X X X p22.2 19808527 19836963 + 15693039 15721474 + 15674916 15703351 + 737633;1580863;6480464 12477932 12107413;16344560 340591 Q8WTZ4;Q9P170 ABBA01071335;ABBA01071336;ABBA01071337;ABBA01071338;ABBA01071339;AC112497;AMYH02038916;BC021816;BQ228866;CD675860;DB271346;NR_026551 Q8WTZ4 Hs.732244 1656675;1699328;1727615;2144835 G31008;G63217;RH103251;RH78665 CA5BL;CA5BP;PRO2325 APPROVED pseudo ENSG00000186312 HGNC:29544 VALIDATED 1343079 CA5B carbonic anhydrase VB, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VB is localized in the mitochondria and shows the highest sequence similarity to the other mitochondrial CA, CA VA. It has a wider tissue distribution than CA VA, which is restricted to the liver. The differences in tissue distribution suggest that the two mitochondrial carbonic anhydrases evolved to assume different physiologic roles. [provided by RefSeq, Jul 2008] X X X p21.1 19872853 19923232 + 15756412 15805748 + 15738289 15787625 + 1580863;6480464 10409679;10677517;11303978;12477932;14702039;15342556;15489334;17174092;17207965;19322201;7574487 11238 C9IZP3;C9JA11;H7C4G3;Q9Y2D0 AA811880;AB021660;ABBA01071344;ABBA01071345;ABBA01071346;ABBA01071347;ABBA01071348;ABBA01071349;ABBA01071350;ABBA01071351;AC096510;AC112497;AK057568;AK291050;AMYH02038918;AMYH02038919;AMYH02038920;BC028142;BP371510;CH471074;NG_012766;NM_007220;XM_005274442 AAH28142;ADQ32291;BAA76671;BAF83739;EAW98895;EAW98896;EAW98897;EAW98898;NP_009151;Q9Y2D0;XP_005274499 Hs.653287 1656445;1656675;1681895;1701782;1702968;1852010;2114626;2143170;5014051;5015619;5016596;5020948;5022200;5022450;5037552;5112017 Cda1bf09;D10S275;D11S3114;D8S2278;D8S2279;DXS1292;DXS1351;DXS6753;G24103;G31008;G35510;G44365;GDB:631802;L17739;L18426;RH47691 CA-VB;MGC39962 OTTHUMP00000215056;carbonate dehydratase VB;carbonic anhydrase 5B, mitochondrial;carbonic dehydratase APPROVED protein-coding ENSG00000169239 HGNC:1378 02207 300230 REVIEWED 1347153 CA5A carbonic anhydrase VA, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 72219173 72267375 - 87921625 87970173 - 87888019 87936569 - 1580863;6480464;8699517 10082753;12477932;17174092;20877624;21906983;22632162;24530203;7490083;8356065;9733757 763 P35218 ABBA01006923;ABBA01006924;ABBA01006925;AC127455;AC133539;AMYH02032627;BC137405;BC137411;CH471114;L19297;NG_033227;NM_001739;S80181;U25134;XM_005256134 AAA02890;AAB47048;AAC99806;AAI37406;AAI37412;EAW95371;EAW95372;NP_001730;P35218;XP_005256191 Hs.177446 1685768;1703702;1757011;2128177;2167638 RH70394;RH71359;SHGC-144370;SHGC-64110;SHGC-78863 CA-VA;CA5;CA5AD;CAV;CAVA OTTHUMP00000175040;carbonate dehydratase VA;carbonic anhydrase 5A, mitochondrial;carbonic anhydrase V, mitochondrial;carbonic dehydratase APPROVED protein-coding HGNC:1377 00262 114761;615751 REVIEWED 1312313 CA8 carbonic anhydrase VIII The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. [provided by RefSeq, Jul 2008] 8 8 8 q12.1 57092480 57182989 - 61101423 61193954 - 60188864 60281395 - 1580863;6480464;7240710;8554872;8699517 12044474;12477932;12536316;12611586;14702039;15489334;16169070;17207965;17219437;19172221;19360879;19461874;20819067;21139048;21348951;21812104;21890473;22952603;23251661;24476000;24794067;7587398;7821612;8482548;8977131 767 P35219 ABBA01041806;ABBA01041807;ABBA01041808;AC021393;AC132834;AK090655;AK289470;AK293999;AK314538;AMYH02018050;AY075022;BC015531;BC069744;BC069794;BC108929;BM462961;BU182748;CH471068;L04656;NG_023193;NM_004056 AAA35653;AAH69744;AAH69794;AAI08930;AAL78170;ADQ32952;BAF82159;BAG37128;BAG52209;BAG57361;EAW86824;EAW86825;EAW86826;NP_004047;P35219 Hs.654388 1663421;1669014;1672244;1673079;1696372;1698416;1716197;1718613;1847711;1849836;1855476;1855563;2140741;2150351;2165212;2175435 RH102752;RH121122;RH122992;RH16300;RH16303;RH70118;RH70985;SGC34477;SGC44649;SHGC-32354;SHGC-34991;SHGC-44649;SHGC-77819;STS-H58922;WI-17948;WI-21909 CA-VIII;CALS;CAMRQ3;CARP;MGC120502;MGC99509 CA-related protein;OTTHUMP00000229370;carbonate dehydratase;carbonic anhydrase-like sequence;carbonic anhydrase-related protein APPROVED protein-coding HGNC:1382 00266 114815;613227 REVIEWED 1319011 CAB39L calcium binding protein 39-like INVOLVED IN cell cycle arrest (inferred); insulin receptor signaling pathway (inferred); PARTICIPATES IN mTOR signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; calcitriol; cytarabine 13 13 13 q14.2 30938637 31073173 - 49882786 50018221 - 49308650 49444126 - 1580863;6480464;6907045 12477932;12601173;14702039;15057823;15489334;16054041;16344560;17353931;18592235;20379614;20562859;20706999;21240483;23135622;8889548 81617 B7ZBJ4;B7ZBJ5;B7ZBJ6;B7ZBJ7;Q5TAW7;Q86WE6;Q9H9S4 AA278473;ABBA01051015;ABBA01051016;AK022639;AK309011;AL136218;AL138875;AMYH02028010;AW134845;AX105381;AY211923;AY288977;BC010993;BX647518;CA450475;CH471075;DA146462;DB033467;DB051338;DB279812;DB457246;HY043965;KF455771;NM_001079670;NM_001287337;NM_001287338;NM_001287339;NM_030925 AAH10993;AAO65176;AAQ93064;BAB14147;CAC37735;EAX08820;EAX08821;EAX08822;EAX08823;NP_001073138;NP_001274266;NP_001274267;NP_001274268;NP_112187;Q9H9S4 Hs.742971;Hs.87159 1334605;1646976;1682483;1699448;1761641;2110291;2138912;2158159;2166912;7186549 CAB39L__4492;D13S1185;D13S165;D13S1678;G17736;RH103315;RH91905;SHGC-145628;STS-N23383 FLJ12577;MO25-BETA;MO2L;RP11-103J18.3;bA103J18.3 MO25beta;OTTHUMP00000018410;OTTHUMP00000018411;OTTHUMP00000018412;OTTHUMP00000205794;U937-associated antigen;antigen MLAA-34;calcium-binding protein 39-like;mo25-like protein;sarcoma antigen NY-SAR-79 protein-coding ENSG00000102547 HGNC:20290 12993 612175 VALIDATED 1315686 CA7 carbonic anhydrase VII Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the salivary glands. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51386593 51396359 + 66878282 66888052 + 66844379 66854149 + 1580863;6480464;8554872 10493829;11875253;12417987;12477932;15489334;15528236;15686895;1783392;20493921;23851572;7574487 766 F8W0L0;P43166 ABBA01025418;AC004638;AC044802;AMYH02032217;AY075019;AY075020;BC033865;BI752037;CH471092;M76420;M76421;M76422;M76423;M76424;M76425;NM_001014435;NM_005182;XM_005256135;XM_005256136;XM_006721267;XM_006721268 AAA51923;AAC23785;AAH33865;AAL78167;AAL78168;ABM86190;ABW03694;EAW83044;EAW83045;EAW83046;EAW83047;NP_001014435;NP_005173;P43166;XP_005256192;XP_005256193;XP_006721330;XP_006721331 Hs.37014 2115806;2218328 CA7_4490;SHGC-60620 CA-VII;CAVII OTTHUMP00000174821;OTTHUMP00000242940;carbonate dehydratase VII;carbonic anhydrase 7;carbonic dehydratase VII APPROVED protein-coding ENSG00000168748 HGNC:1381 00263 114770 REVIEWED 1314979 CAB39 calcium binding protein 39 ENCODES a protein that exhibits kinase binding; protein kinase activator activity; protein serine/threonine kinase activator activity; INVOLVED IN intracellular signal transduction; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; PARTICIPATES IN adenosine monophosphate-activated protein kinase (AMPK) signaling pathway; mTOR signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene diol epoxide I; calcitriol; camptothecin 2 2 2 q37.1 225353992 225462181 + 231577557 231685790 + 230712842 230821075 + 1600678;1580863;6480464;6907045 15509864 10810093;12477932;14517248;14676191;14730349;14976552;15183188;15489334;15561763;16054041;16344560;17353931;18854318;19056867;19386264;19513107;19892943;20562859;21139048;21423148;21565611;21890473;21906983;22179124;22939629;23296203;23383273;24250222;24816145;8910387 51719 Q9Y376 AB073893;ABBA01050113;ABBA01050114;AC012507;AC084031;AF113536;AF134480;AF151824;AK000804;AK026335;AK292382;AK315692;AMYH02005957;AMYH02005958;AMYH02005959;BC020570;BG773506;CH471063;DA886579;DB455871;NM_001130849;NM_001130850;NM_016289 AAD34061;AAF14873;AAH20570;AAP97257;AAY14829;BAF85071;BAG38055;EAW70932;EAW70933;NP_001124321;NP_001124322;NP_057373;Q9Y376 Hs.603930 1339006;1645935;1653878;1678945;1705866;1734812;1855398;2110293;2158794;2169583;2170729;5024613 A002Q38;CAB39_9754;D2S1575E;D2S2340;G06903;NIB1194;RH46522;RH68250;RH69702;RH94102;SHGC-81194;WI-17440 CGI-66;FLJ22682;MO25 MO25alpha;OTTHUMP00000164293;OTTHUMP00000204438;OTTHUMP00000204439;calcium-binding protein 39 protein-coding ENSG00000135932 HGNC:20292 10091 612174 VALIDATED 1344567 CAAP1 caspase activity and apoptosis inhibitor 1 INVOLVED IN apoptotic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; ketamine (ortholog) 9 9 9 p21.2 26768847 26820992 - 26840683 26892826 - 26840685 26892828 - 6480464;8554872 12477932;14702039;15164053;15302935;15342556;15489334;16169070;17081983;17207965;19240061;19322201;20379614;21832049;21980415;23383273;8619474;9110174 79886 E5RFV1;E5RFW3;Q9H8G2 ABBA01065135;AF131768;AK023719;AK300739;AK301673;AL356133;AMYH02019342;AMYH02019343;BC014658;BC071953;BP228742;BP374752;CH471071;NM_001167575;NM_024828;XM_005251581 AAH14658;AAH71953;ADQ32016;BAB14655;BAG62409;BAG63146;EAW58576;EAW58577;EAW58578;EAW58579;NP_001161047;NP_079104;Q9H8G2;XP_005251638 Hs.178357 1771102;1848124;2121485;2175608 A007F33;D9S2086;WI-13926;WI-21850 C9orf82;CAAP;FLJ13657;RP11-337A23.1 OTTHUMP00000021163;conserved anti-apoptotic protein;hypothetical protein LOC79886;uncharacterized protein C9orf82 APPROVED protein-coding ENSG00000120159 HGNC:25834 12981 VALIDATED 1345299 CABP3 calcium binding protein 3 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. Study of the transcripts and genomic structure revealed that the 5' end of this gene is complementary and reverse to that of the CABP5 gene, and the sequence beyond the overlapping region is nearly identical to that of CABP5. Thus, these two genes encode the protein products with distinct N-terminal halves but identical C-terminal halves. [provided by RefSeq] q13.33 1580863 10625670;11785943 51476 AF170816;AF170817;AF170818;AF224511 AAF27810;AAF27811;Q9NZU6 protein-coding HGNC:15960 1314493 CABP4 calcium binding protein 4 This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 q13.2 64556021 64562452 + 67219886 67229245 + 67455347 67461774 + 1580863;6480464;7204681;7240710;8554872;8699517 20668007 10625670;12477932;1316906;15452577;15489334;16554811;16960802;19074807;19338761;20157620;20801516;22936811;23714322;8889548 57010 F5H3E8;P57796 ABBA01024032;AL712439;AMYH02024997;AP003419;AY039217;BC033167;BM665388;CH471076;NG_021211;NM_001300895;NM_001300896;NM_145200;XM_005274114;XM_005274115;XM_006718640 AAH33167;AAK83462;EAW74627;EAW74628;EAW74629;EAW74630;NP_001287824;NP_001287825;NP_660201;P57796;XP_005274171;XP_005274172;XP_006718703 Hs.143036 1733720;5016478;5037552 D11S2072;D8S2279;GDB:434012 CSNB2B OTTHUMP00000237645;OTTHUMP00000237671;calcium-binding protein 4 APPROVED protein-coding HGNC:1386 12344 608965;610427 REVIEWED 1313589 CABLES1 Cdk5 and Abl enzyme substrate 1 This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 18 18 18 q11.2 17551596 17656291 + 20714528 20840434 + 23134564 23260470 + 737633;1580863;6480464 12477932 10873625;10896159;11527406;11585773;11706030;11733001;11955625;12612882;13679449;14637168;14702039;14729625;15174051;15489334;16177568;16177791;16964243;17101133;17982127;18059193;18391951;19247474;19266077;20189936;20546612;20694014;20881960;21890215;22139419;23333304;23455922;23505323;23563607;23602568;24026423 91768 A7K6Y5;J3QRY5;Q8TDN4;V9GYB4 ABBA01022639;ABBA01022640;ABBA01022641;AC011731;AC105247;AF348525;AK025627;AK093243;AK296407;AK304880;AMYH02034412;BC004124;BC015686;BC037218;CH471088;EF028204;EF444961;NM_001100619;NM_001256438;NM_138375;NR_023359;XM_006722575;XM_006722576 AAH04124;AAH37218;AAL83906;ABL77400;ACA05957;BAC04107;BAG59072;BAG65617;EAX01147;EAX01148;NP_001094089;NP_001243367;NP_612384;Q8TDN4;XP_006722638;XP_006722639 Hs.11108 1774728;2136073 A004P17;UniSTS:37732 CABL1;FLJ35924;HsT2563;IK3-1 CABLES;CDK5 and ABL1 enzyme substrate 1;interactor with CDK3 1 APPROVED protein-coding ENSG00000134508 HGNC:25097 16461 609194 VALIDATED 1315034 CA9 carbonic anhydrase IX Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014] 9 9 9 p13.3 35607463 35614702 + 35673915 35681156 + 35673918 35681159 + 1580863;2293190;2293194;2293199;2293200;2293204;2293196;2293198;2293201;2298945;2298947;2298946;2293191;2293193;2293195;2293197;6480464;6484113;8554872 11506497;12687273;12883698;12966427;14520462;15069539;16714773;17233814;17245699;17280655;17308115;17429140;17452774;18464292;18483361 10709109;11083462;11303978;11676494;11680594;11705854;12137853;12154057;12477932;12560438;12576453;12615703;12676895;12854129;12865916;1312272;14567991;14578124;14654550;15184875;15199132;15240538;15340161;15489334;15500003;15556624;15585626;15671533;15809767;15833446;15837325;15847702;15849821;15856466;15935515;16168127;16236267;16243791;16288478;16416108;16428489;16533775;16944313;16954440;16964400;17200340;17255364;17367605;17390110;17452775;17536770;17652430;17674038;17706406;17852557;17855694;17906661;18026188;18060036;18173856;18290322;18336315;18336316;18440050;18482982;18676750;18695901;18703501;18728663;18841153;18941400;18976937;19008051;19017360;19022520;19074859;19165203;19204726;19291313;19347577;19367501;19458084;19469910;19473055;19523858;19539328;19540352;19564335;19619339;19805286;19808899;19861127;19913121;19950233;20038959;20127031;20170095;20224781;20358226;20398423;20423227;20461082;20514415;20521252;20526721;20628086;20819778;20822935;20840814;20875751;20964835;20978319;21040473;21088149;21090098;21209841;21223596;21249485;21281785;21302028;21306648;21363891;21442770;21454639;21519917;21547579;21664839;21691815;21694464;21745383;21761968;21870331;21910893;21959110;21966417;22037869;22133596;22147747;22170054;22175902;22199327;22289741;22366443;22367930;22430125;22436629;22465027;22484976;22486898;22699808;22843905;22918393;22939629;22976806;23074198;23098453;23141780;23181366;23208505;23226406;23226559;23263636;23291973;23299542;23372804;23391777;23503645;23512428;23656776;23802595;23860929;23910904;23957700;24008660;24068505;24146381;24146382;24146383;24217923;24349364;24436269;24471939;24878360;24926090;8084592;8486430;8661007;9024293;9524195;9770531;9787087 768 Q16790 ABBA01064988;AI023541;AJ010588;AL133410;AL357874;AL554705;AMYH02019463;BC014950;CH471071;EF122496;HC729665;NM_001216;X66839;XM_006716866;XM_006716867;XM_006716868;XM_006716869;XM_006716870;XR_428428;XR_428429;Z54349 AAH14950;ABL67717;ABM83134;ABM86330;CAA47315;CAB82444;CBL94025;EAW58359;NP_001207;Q16790;XP_006716929;XP_006716930;XP_006716931;XP_006716932;XP_006716933 Hs.63287 2132345;2138117 RH66792;STS-X66839 CA-IX;CAIX;MN;P54/58N;pMW1 OTTHUMP00000022773;RCC-associated antigen G250;RCC-associated protein G250;carbonate dehydratase IX;carbonic anhydrase 9;carbonic dehydratase;membrane antigen MN;renal cell carcinoma-associated antigen G250 APPROVED protein-coding ENSG00000107159 HGNC:1383 04417 603179 REVIEWED 1345026 CABLES2 Cdk5 and Abl enzyme substrate 2 ENCODES a protein that exhibits cyclin-dependent protein serine/threonine kinase regulator activity (inferred); INVOLVED IN cell division (inferred); regulation of cell cycle (inferred); regulation of cell division (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; benzo[a]pyrene 20 20 20 q13.33 57698960 57717613 - 60963686 60982339 - 62388630 62407283 - 737633;1580863;6480464 12477932 11780052;11955625;14637168;15489334;20056645;23455922;23535732;23602568 81928 H0Y5H2;Q9BTV7 ABBA01040087;AI066606;AL121832;AMYH02037427;AMYH02037428;BC003122;BC011196;BU166894;CA420818;CB960872;CH471077;NM_031215 AAH03122;EAW75364;EAW75365;EAW75366;NP_112492;Q9BTV7 Hs.301040 1650878;1669353;2110999 D20S141E;RH12076;RH64856 C20orf150;dJ908M14.2;ik3-2 CDK5 and ABL1 enzyme substrate 2;OTTHUMP00000031481;OTTHUMP00000031482;interactor with CDK3 2 protein-coding ENSG00000149679 HGNC:16143 12994 VALIDATED 732324 CABIN1 calcineurin binding protein 1 Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011] 22 22 22 q11.23 8207658 8374995 + 24407642 24574596 + 24011192 24178628 + 734676;6480464;8554872 8896451 10531067;10591208;10825153;10931822;10933397;11714752;12477932;12700764;14623296;14718166;15063762;15671033;15683985;15902271;17172641;17531200;18029348;19505873;19668210;19717561;19817957;19913121;20075944;20379614;20628086;21139048;21414300;21807893;22195966;22275266;22401310;23624525;23939952;23974956;24163370;9150134;9205841;9655484 23523 B5MEB3;C9J068;C9JT60;Q9Y6J0 AB002328;ABBA01055126;ABBA01055127;ABBA01055128;ABBA01055129;ABBA01055130;AC253536;AF072441;AK307522;AL390166;AL703593;AP000351;AP000352;AP000353;BC013099;BC021929;BC028969;BC041659;BC054497;CH471095;NM_001199281;NM_001201429;NM_012295;XM_005261415;XM_005261416;XM_005261417;XM_005261419;XM_005261420;XM_006724179;XM_006724180;XM_006724181;XM_006724182;XM_006724183;XM_006724184;XR_430404;Z92546 AAD40846;AAH21929;AAH28969;AAH41659;AAH54497;BAA20788;CAB62954;CAB99097;EAW59637;EAW59638;EAW59639;EAW59640;NP_001186210;NP_001188358;NP_036427;Q9Y6J0;XP_005261472;XP_005261473;XP_005261474;XP_005261476;XP_005261477;XP_006724242;XP_006724243;XP_006724244;XP_006724245;XP_006724246;XP_006724247 Hs.517478 1335420;1646075;1646202;1696902;1697454;1733266;1759157;1759941;1772850;2121477;2218330 CABIN1_4493;D22S1174;D22S345;D22S613;D22S651;G18177;RH101917;RH102228;SHGC-150952;SHGC-170345;STS-R43261 KIAA0330;PPP3IN;cain OTTHUMP00000198540;OTTHUMP00000198541;OTTHUMP00000208363;calcineurin binding protein cabin 1;calcineurin inhibitor;calcineurin-binding protein cabin-1 APPROVED protein-coding ENSG00000099991 HGNC:24187 10369 604251 REVIEWED 1317691 CABP5 calcium binding protein 5 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009] 19 19 19 q13.33 45398355 45412448 - 48532640 48547311 - 48029383 48044054 - 1580863;6480464;8554872 10625670;11108966;11785943;12477932;15489334;18029348;19338761;24599957;7566098;8889548 56344 Q9NP86 AA318398;ABBA01033017;ABBA01033018;AC010330;AC010458;AF169159;AF170812;AF170813;AF170814;AF170815;AMYH02036280;AMYH02036281;AMYH02036282;BC126133;BC126135;BQ185108;BU734136;CH471177;NM_019855 AAF25793;AAF25798;AAI26134;AAI26136;ADR82830;EAW52310;NP_062829;Q9NP86 Hs.117694 2149490 SHGC-30732 CABP3 Calcium-binding protein 3;calcium-binding protein 5 APPROVED protein-coding HGNC:13714 09537 607315 REVIEWED 1348796 CABP7 calcium binding protein 7 ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN trans-Golgi network membrane; INTERACTS WITH 8-bromo-3',5'-cyclic AMP; aflatoxin B1; trichostatin A 22 22 22 q12.2 13916071 13927549 + 30116344 30127822 + 29720090 29731833 + 737633;6480464 12477932 11785943;15489334;19338761;22989873;7566098 164633 Q86V35 AA351919;ABBA01055274;ABBA01055275;ABBA01055276;ABBA01055277;AC004882;AMYH02038207;BC051805;BX488512;CH471095;NM_182527;XM_006724161 AAH51805;ADR82654;EAW59834;EAW59835;NP_872333;Q86V35;XP_006724224 Hs.643608 1678875;1682846;1772798;1850863;2174924 A007D33;RH27831;RH45735;STS-L11353;WI-12398 CALN2;MGC57793 OTTHUMP00000199672;calcium-binding protein 7;calneuron 2;calneuron II;calneuron-2 protein-coding ENSG00000100314 HGNC:20834 12995 VALIDATED 1344745 CACD central areolar choroidal dystrophy ASSOCIATED WITH Choroidal dystrophy central areolar (inferred) 7240710 8733141;9733038 772 HGNC:1387 215500 1348224 CABP2 calcium binding protein 2 This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction.[provided by RefSeq, Nov 2010] 11 11 11 q13.1 64620821 64625302 - 67286418 67291085 - 67518947 67523614 - 1580863;6480464;7204681;8699517;7240710;8554872 20668007 10625670;11108966;11415439;12477932;19338761;21697133;22981119 51475 F1T0K2;F5H458;Q9NPB3 AB593136;ABBA01024030;AF169154;AF170811;AMYH02024997;AP001184;BC018476;CH471076;NG_032982;NM_016366;XM_005274046 AAF25788;AAF26283;AAI52747;BAJ84076;EAW74645;EAW74646;EAW74647;NP_057450;Q9NPB3;XP_005274103 Hs.278984 DFNB93 OTTHUMP00000237584;OTTHUMP00000238412;calcium-binding protein 2 APPROVED protein-coding ENSG00000167791 HGNC:1385 09535 607314;614899 REVIEWED 1345908 CABYRP1 calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene 1 3 3 3 p21.1 54048406 54049611 - 54081687 54082846 - 54047660 54048819 - 266954 ABBA01024468;AC115282;AMYH02006832;NG_002394 1699816 RH103515 CABYRP;calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2) pseudogene;calcium-binding tyrosine-(y)-phosphorylation regulated (fibrousheathin 2) pseudogene APPROVED pseudo HGNC:31902 INFERRED 1604567 CABS1 calcium-binding protein, spermatid-specific 1 ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN spermatogenesis (inferred); FOUND IN motile cilium (ortholog); INTERACTS WITH aflatoxin B1; ammonium chloride (ortholog); bisphenol A (ortholog) 4 4 4 q13.3 68558418 68560580 + 71200671 71202833 + 70334954 70337116 + 6480464 12477932;14702039;16344560;17207965;19208547;19271754 85438 Q96KC9 ABBA01022926;AC106884;AF380838;AK057459;AK315022;AMYH02009420;BC034492;BC046111;BX098854;CH471057;DB027445;HC007196;HC044633;NM_033122 AAH46111;AAK57455;ADQ33118;BAB71497;BAG37512;CBH19403;CBH30646;EAX05615;EAX05616;NP_149113;Q96KC9 Hs.120316 1697370 RH102183 C4orf35;CLPH;FLJ32897;NYD-SP26 OTTHUMP00000159771;calcium-binding and spermatid-specific protein 1;calcium-binding protein, sperm-specific 1;casein-like phosphoprotein;testis development protein NYD-SP26 APPROVED protein-coding ENSG00000145309 HGNC:30710 14865 VALIDATED 731282 CABP1 calcium binding protein 1 Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012] 12 12 12 q24.31 120712715 120739394 + 121078422 121105129 + 120640619 120667324 + 1580863;6480464;7204681;8554872 20668007 10625670;11108966;11865310;12032348;12477932;14570872;14685260;14702039;15140941;15980432;16147998;16470652;17960496;19008222;19338761;20195357;21134641;21383011;21608059;22693956;22996592;24599957;8889548;9920909 9478 C9J8G2;Q9NZU7 ABBA01020131;ABBA01020132;AC069234;AF169148;AF169149;AK127203;AL533429;AMYH02027379;BC015006;BC030201;BM716422;BQ188859;CH471054;NG_029321;NM_001033677;NM_004276;NM_031205;XM_005253994 AAF25782;AAF25783;AAH30201;ABM86439;ABW03794;EAW98209;EAW98210;EAW98211;NP_001028849;NP_004267;NP_112482;Q9NZU7;XP_005254051 Hs.458482 1698862;2130496 D12S183;RH102996 HCALB_BR CALBRAIN;OTTHUMP00000210617;OTTHUMP00000210618;OTTHUMP00000210619;OTTHUMP00000210620;calcium binding protein 5;calcium-binding protein 1;caldendrin APPROVED protein-coding ENSG00000157782 HGNC:1384 605563 REVIEWED 1605969 CACHD1 cache domain containing 1 INVOLVED IN calcium ion transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); copper atom; copper(0) 1 1 1 p31.3 63227656 63449867 + 64936476 65158741 + 64470793 64693058 + 6480464 10997877;12421765;12477932;14702039;20379614;20467438;21139048;22268729 57685 Q5VU97 AB046793;ABBA01074559;ABBA01074560;ABBA01074561;ABBA01074562;AC099678;AK022571;AK024256;AK131297;AK299361;AL355515;AL590405;AL833000;AMYH02001166;AMYH02001167;AMYH02001168;AMYH02001169;AMYH02001170;BC039301;BX537603;CH471059;CX163220;NM_001293274;NM_020925;XM_006710793 AAH39301;BAB13399;BAB14105;BAB14860;BAG61356;CAD97793;CAH56312;EAX06551;NP_001280203;NP_065976;Q5VU97;XP_006710856 Hs.443891 1660970;1691146;1698214;1707692;1708870;1718325;1718541;1753641;1769978;1778726;1781386;1781804;2150786;2160108;2180969;5092892;5121549 A009B41;D1S3164;D1S3724;G16067;G32395;G58143;RH102643;RH122934;RH91887;SHGC-106872;SHGC-107550;SHGC-156086;SHGC-74907;SHGC-74939;SHGC-74941;SHGC-82019;SHGC-83932 KIAA1573;RP4-655E10.1 OTTHUMP00000010675;VWFA and cache domain-containing protein 1;cache domain-containing protein 1;von Willebrand factor type A and cache domain containing 1 protein-coding ENSG00000158966 HGNC:29314 13874 VALIDATED 1349000 CABYR calcium binding tyrosine-(Y)-phosphorylation regulated To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 18 18 18 q11.2 18535262 18557874 + 21718920 21741564 + 24138956 24161600 + 1580863;6480464 11730911;11820818;12477932;12509440;15489334;15752768;16139264;16344560;17207965;17317841;18029348;18421703;20379614;20954286;21240291;21274509;22285430;22990118;7849610;8125298 26256 G5E9E5;J3KRI0;J3KT09;J3KTE8;J3QLW5;J3QQK7;O75952 ABBA01022619;AC090772;AF088868;AF295037;AF295038;AF295039;AF329634;AK225858;AK301889;AK313243;AMYH02034430;AY007205;BC011996;CH471088;DB055487;HM594163;HM594164;HM594165;HM594166;HM594167;HM594168;HM594169;HQ659768;HY051562;KF456354;NM_012189;NM_138643;NM_138644;NM_153768;NM_153769;NM_153770;XM_005258245;XM_005258246;XM_005258247 AAC35373;AAG01891;AAG17889;AAG17890;AAG17891;AAH11996;AAL56051;ADK33596;ADK33597;ADK33598;ADK33599;ADK33600;ADK33601;ADQ32700;ADX30691;BAG36054;BAG63320;EAX01174;EAX01175;EAX01176;EAX01177;EAX01178;EAX01179;NP_036321;NP_619584;NP_619585;NP_722452;NP_722453;NP_722454;O75952;XP_005258302;XP_005258303;XP_005258304 Hs.511983 1689065;1699816 RH103515;RH79977 CABYRc/d;CBP86;CT88;FSP-2;FSP2;MGC9117 CABYRa;CABYRc;CABYRe;OTTHUMP00000035470;OTTHUMP00000162776;OTTHUMP00000162777;OTTHUMP00000162778;calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2);calcium-binding protein 86;calcium-binding tyrosine phosphorylation-regulated protein;calcium-binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2);cancer/testis antigen 88;fibrousheathin 2;fibrousheathin II;fibrousheathin-2;testis-specific calcium-binding protein CBP86 APPROVED protein-coding ENSG00000154040 HGNC:15569 10806 612135 REVIEWED 6481192 CACNA1C-AS2 CACNA1C antisense RNA 2 p13.33 100874235 AC007618;AI219155;AI797712;NR_046579 Hs.667644 APPROVED ncrna HGNC:40118 VALIDATED 6481187 CACNA1C-AS4 CACNA1C antisense RNA 4 12 12 2329703 2332647 - 2220537 2223481 - 16344560 100874234 ABBA01048809;AC005344;AMYH02025883;BI830379;DB094045;HG504394;NR_046578 Hs.372570 RP1-53O8.1 APPROVED ncrna ENSG00000256025 HGNC:40116 VALIDATED 6480960 CACNA1C-IT1 CACNA1C intronic transcript 1 (non-protein coding) p13.33 100874368 AC005342 ncrna HGNC:41312 6483983 CACNA1C-AS1 CACNA1C antisense RNA 1 ASSOCIATED WITH Arrhythmias, Cardiac (inferred); Brugada Syndrome (inferred); Cardiac Complexes, Premature (inferred) 12 12 2785167 2800323 - 2676001 2691157 - 8554872 14702039;16344560 100652846 ABBA01048802;ABBA01048803;ABBA01048804;AC007618;AK093746;AMYH02025884;AMYH02025885;DB156888;HG504398;HG504400;KF455578;NG_008801;NR_045725 Hs.683896 FLJ36427;RP11-885B4.3 APPROVED ncrna ENSG00000246627 HGNC:40119 VALIDATED 6480963 CACNA1C-IT2 CACNA1C intronic transcript 2 (non-protein coding) p13.33 100874369 AC005342;AI810102;NR_046768 Hs.208723 ncrna HGNC:41313 VALIDATED 1322993 CACFD1 calcium channel flower domain containing 1 ENCODES a protein that exhibits calcium channel activity (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); synaptic vesicle endocytosis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of synaptic vesicle membrane (inferred); INTERACTS WITH cadmium dichloride (ortholog); clofibrate (ortholog) 9 9 9 q34 106875680 106886533 + 136325087 136335909 + 133459965 133470787 + 6480464;8554872 12477932;12975309;14702039;15164053;15489334;16303743;16344560;18940312;19737521;21906983 11094 F6TGH8;Q9UGQ2 AA436195;ABBA01032457;AJ011373;AK074852;AK075416;AK075548;AK296343;AK298820;AK304524;AK311325;AL137319;AL593848;AMYH02021832;AY358452;BC030558;CH471090;CQ782808;CS051223;CS051397;DA699497;DB165724;NM_001135775;NM_001242369;NM_001242370;NM_017586 AAH30558;AAQ88817;BAC11245;BAC11606;BAC11691;BAH12324;BAH12877;BAH14205;CAB66156;CAF86035;CAI72107;CAI72193;EAW88089;EAW88090;NP_001129247;NP_001229298;NP_001229299;NP_060056;Q9UGQ2 Hs.62003 1673218;2112884;2216988 ADAMTS13_3006;D9S2135;STS-AA040591 C9orf7;D9S2135 OTTHUMP00000022493;OTTHUMP00000022494;OTTHUMP00000022495;calcium channel flower domain-containing protein 1;calcium channel flower homolog;flower APPROVED protein-coding ENSG00000160325 HGNC:1365 12974 613104 VALIDATED 6480961 CACNA1C-IT3 CACNA1C intronic transcript 3 (non-protein coding) 12 12 2378942 2397911 + 2269776 2288745 + 100874370 AA421533;ABBA01048808;AC005293;AC005344;AMYH02025883;HG504395;NR_046769 Hs.653548 RP5-977L1.1 ncrna HGNC:41314 VALIDATED 735950 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010] 19 19 19 p13 13207639 13507772 - 13317256 13617274 - 13206442 13506460 - 1358570;734669;1358446;2311105;6480464;6907045;7240710;7204688;8554872;8699517 10945665;11342703;14530926;16868246;21746798 10049321;10212211;10607897;10737800;10753886;10987655;11061267;11176968;11179022;11320173;11723274;11742003;11803518;11804332;11843866;11865310;11960817;11971066;12049805;12056940;12235360;12451115;12461694;12527722;12542511;12545428;12676347;12707077;12736095;12756131;1370480;14534930;14570872;14592859;14681882;14756671;15003170;15026160;15026782;15057824;15210532;15223312;15240985;15254089;15293273;15362569;15448138;15452324;15474358;15504896;15504897;15545010;15710862;15728831;15743764;15795222;15826995;15827025;15953418;15985579;16043807;16147992;16186543;16306128;16325861;16373336;16382099;16389595;16508934;16595610;17020933;17119788;17289272;17292920;17418573;17438119;17573560;17588611;17654512;17672918;18056581;18162541;18279427;18285829;18313928;18338196;18400034;18413478;18437043;18478327;18498393;18513263;18541804;18581134;18602318;18606230;18644040;18670797;18755274;18758887;18940563;18973067;18976783;19007941;19145126;19182766;19189122;19235102;19242091;19259763;19336002;19429006;19438926;19486177;19520699;19527141;19586927;19624685;19633872;19811514;19864665;20043227;20043243;20069235;20071244;20080591;20091047;20129625;20156848;20301317;20301319;20301562;20301674;20379614;20484531;20495360;20631222;20837964;21078624;21183743;21186355;21440913;21550405;21696515;21768184;21788606;21827907;21827920;21906983;21965686;22074995;22190617;22549042;22942164;22969264;23103419;23255606;23344743;23407676;23430985;23441182;23505410;23726906;23827678;24046065;24108129;24275721;24329154;7823133;8220421;8525433;8692999;8825650;8898206;8988170;9009193;9238069;9259275;9302278;9303303;9311738;9442082;9600739 773 B5TYJ1;I3L2V5;I3L391;K7EIF8;K7EKF7;K7EQ95;O00555;Q9NS89 AB035726;AB035727;ABBA01029742;ABBA01029743;ABBA01029744;ABBA01029745;ABBA01029746;ABBA01029747;ABBA01029748;ABBA01029749;ABBA01029750;ABBA01029751;AC005305;AC005513;AC008540;AC011446;AC022436;AC026805;AC093062;AC098781;AC124224;AF004883;AF004884;AF100774;AF144098;AF152345;AMYH02035570;AMYH02035571;AMYH02035572;AMYH02035573;AMYH02035574;AMYH02035575;AMYH02035576;AMYH02035577;AMYH02035578;AMYH02035579;AMYH02035580;AMYH02035581;AMYH02035582;AMYH02035583;AMYH02035584;BQ340521;CH471106;FJ040507;KF456505;NG_011569;NM_000068;NM_001127221;NM_001127222;NM_001174080;NM_023035;S76537;U06702;U79663;U79664;U79665;U79666;U79667;U79668;X99897 AAB33068;AAB49674;AAB49675;AAB49676;AAB49677;AAB49678;AAB61612;AAB61613;AAB64179;AAC26839;AAC77460;AAD38386;AAF03935;ACH89974;BAA94765;BAA94766;CAA68172;EAW84361;EAW84362;EAW84363;EAW84364;EAW84365;EAW84366;NP_000059;NP_001120693;NP_001120694;NP_001167551;NP_075461;O00555 Hs.501632 1338443;1710728;1721999;1728735;1728737;1767776;2112236;5019597;5019599;5019601;5019603;5019605;5092486;5092488;5092490;5092492;5092494;5092496;5092498;5092500;5092502;5092504;5092506;5092508;5092510;5092512;5092514;5092516;5092518;5092520;5092522;5092524;5092528;5092534;5092538;5092540;5092542;5092544;5092546;5092548;5092550;5092552;5092554;5092556;5092558;5092560;5092562;5092564;5092566;5092568;5092570;5092572;5092574 D19S1150;D19S564;G49217;G49219;G54374;G54375;G54376;G54377;G54378;G54379;G54380;G54381;G54382;G54383;G54384;G54385;G54386;G54387;G54388;G54389;G54390;G54391;G54392;G54393;G54394;G54395;G54397;G54398;G54401;G54403;G54404;G54405;G54406;G54407;G54408;G54409;G54410;G54411;G54412;G54413;G54414;G54415;G54416;G54417;G54418;G54419;G54420;G54422;G54423;G54424;G59885;RH48188;SHGC-83991 APCA;BI;CACNL1A4;CAV2.1;EA2;FHM;HPCA;MHP;MHP1;SCA6 brain calcium channel 1;brain calcium channel I;calcium channel, L type, alpha-1 polypeptide;calcium channel, voltage-dependent, alpha 1a subunit;voltage-dependent P/Q-type calcium channel subunit alpha-1A;voltage-gated calcium channel subunit alpha Cav2.1 APPROVED protein-coding ENSG00000141837 HGNC:1388 03004 108500;141500;183086;601011 REVIEWED 1347795 CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 9 9 9 q34 59 5239 - 140772241 141019076 + 137877789 138124624 + 1580151;1580863;1626313;1626312;6480464;6907045;7204688;8554872 11353727;16289869;17567797;21746798 10455105;11130074;11395521;11438518;12018859;12161429;12177192;12414690;12435810;12477932;12665800;1321501;14602720;14684825;15166237;15607937;15728831;15953418;16382099;16627564;16857708;17081983;18958281;19065143;20195357;20379614;20489179;21057379;21166801;21906983;22491326;22590648;22613715;24566975;8684604;8750830;8825650;9030575;9238069 774 B1AQK6;B1AQK7;E9PDR3;F6RH32;H0Y7I8;Q00975;Q9HAT3;Q9HAT6;Q9HBH2 AB209467;ABBA01022792;ABBA01022793;ABBA01022794;ABBA01022795;ABBA01022796;AF237470;AF238295;AF238296;AF245659;AF245660;AF302780;AF302782;AL591424;AL772363;AMYH02021951;AMYH02021952;AY429522;AY429523;BC033060;CH471090;CS184988;M94172;M94173;NM_000718;NM_001243812;U76666 AAA51897;AAA51898;AAC51138;AAG13642;AAG13643;AAG13644;AAG13645;AAG13646;AAG13647;AAG13648;AAG13650;AAG14396;AAG14397;AAG14398;BAD92704;CAJ41866;EAW88415;EAW88416;EAW88417;EAW88418;NP_000709;NP_001230741;Q00975 Hs.495522 1337682;1647218;1654731;1732015;1743007;1758309;1787046;1795228;1848645;2111021;2164748;5113224 A004Y39;CACNA1B_73;D9S1090;D9S2168;D9S218E;D9S325;GDB:229346;RH69203;RH79907;SHGC-148023;SHGC-153882;SHGC-32482 BIII;CACNL1A5;CACNN;Cav2.2 Cav2.2 voltage-gated Ca2+ channel;OTTHUMP00000022714;OTTHUMP00000022715;OTTHUMP00000022716;OTTHUMP00000022718;brain calcium channel III;calcium channel alpha12.2 subunit;calcium channel, L type, alpha-1 polypeptide;calcium channel, N type;calcium channel, voltage-dependent, L type, alpha 1B subunit;calcium channel, voltage-dependent, alpha 1B subunit, N type;voltage-dependent N-type calcium channel subunit alpha-1B;voltage-gated calcium channel alpha subunit Cav2.2;voltage-gated calcium channel subunit alpha Cav2.2 APPROVED protein-coding ENSG00000148408 HGNC:1389 03005 601012 REVIEWED 733702 CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] 1 1 1 q25.3 154559815 154877831 + 181452447 181775920 + 181483550 181806784 + 1299845;734670;1580863;6480464;6907045;7204688;8554872 11735114;21746798;8388125 11159396;11179973;11719851;11903132;12202369;12401453;12477932;12706458;14702039;15258581;15342556;15845089;16382099;16543726;16855219;17050807;17189400;17660294;17720895;17727731;17934712;18037383;18676988;20026913;20379614;20424473;21482359;21691059;21906983;22178872;22427875;22633975;22846999;23382691;23870195;23940630;7536609;8071363;8358434;8825650;9238069;9656471;9753159;9776767;9799129 777 E9PIE8;F8W760;F8W8A2;F8W9Z1;J3KP11;Q15878;Q59FG1 AA349993;AB209499;ABBA01027775;ABBA01027776;ABBA01027777;ABBA01027778;AF152379;AF223391;AJ276502;AK096563;AK309070;AL160059;AL161734;AL356500;AL359270;AL590998;AMYH02002260;AW452628;BC037800;BE504178;BI914369;BP230397;CD580303;CH471067;KF455083;KF455110;KF510705;L27745;L29384;L29385;NM_000721;NM_001205293;NM_001205294;R11722 AAA59204;AAA59205;AAA72125;AAD38389;AAF37687;AAF37688;AAI72376;BAD92736;CAB81554;EAW91103;EAW91104;EAW91105;EAW91106;EAW91107;EAW91108;EAW91109;EAW91110;NP_000712;NP_001192222;NP_001192223;Q15878 Hs.437444 1683785;1694742;1713093;1728929;1778212;1781674;1846801;2142988;2150288;2158257;2168216 Cacna1e;G19134;G43571;HSC1IC052;RH120334;RH71450;RH80638;SHGC-154997;SHGC-75979;SHGC-76011;SHGC-76012 BII;CACH6;CACNL1A6;Cav2.3 OTTHUMP00000035416;OTTHUMP00000035417;OTTHUMP00000035418;OTTHUMP00000235985;brain calcium channel II;calcium channel, L type, alpha-1 polypeptide, isoform 6;calcium channel, R type, alpha-1 polypeptide, isoform 6;calcium channel, voltage-dependent, alpha 1E subunit;calcium channel, voltage-dependent, l type, alpha 1e subunit;voltage-dependent R-type calcium channel subunit alpha-1E;voltage-dependent calcium channel alpha 1E subunit;voltage-gated calcium channel alpha 1E subunit;voltage-gated calcium channel alpha subunit Cav2.3;voltage-gated calcium channel subunit alpha Cav2.3 APPROVED protein-coding ENSG00000198216 HGNC:1392 03006 601013 REVIEWED 735457 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 3 3 3 p14.3 53496179 53813773 + 53529076 53847179 + 53495049 53813152 + 704382;1300292;1580863;2311105;6480464;6906919;6907045;6906922;7204688;8699517;7240710;8554872 10929716;12591156;16026470;16868246;18947822;21746798 10468580;11160515;11285265;11292657;11424233;11441182;11581302;1309651;1309948;1324226;14981074;15939813;1664412;16921373;16973824;17081983;17110593;17257825;18482979;1849233;19004828;19225208;19240061;19339512;19351867;19885716;20363327;20379614;20424473;21131953;21352396;21737448;21859974;21901158;21998309;21998310;23229155;23396134;23591884;23791743;23913001;23913004;23924992;23973784;24144296;24703308;24849370;7557998;8738134 776 B7Z269;H7C4S8;Q01668;Q59GD8 AB209171;ABBA01024471;ABBA01024472;AC005905;AC012467;AC024149;AC132810;AF055575;AK294397;AK294585;AMYH02006830;AMYH02006831;AW008794;CH471055;D43747;EU363339;M76558;M83566;NG_032999;NM_000720;NM_001128839;NM_001128840;XM_005265448;XM_006713325 AAA35629;AAA58402;AAD08651;ABY66526;BAA07804;BAD92408;BAG57776;BAH11755;EAW65286;EAW65287;EAW65288;EAW65289;EAW65290;EAW65291;EAW65292;EAW65293;EAW65294;EAW65295;NP_000711;NP_001122311;NP_001122312;Q01668;XP_005265505;XP_006713388 Hs.476358 1336929;1672212;1672973;1700824;1743083;1745405;1755707;1755725;1766443;1779400;1784696;2120484;2138063;2174533;5093216;5094630;5125449;7184262;7184264 A009J32;D3S1578;D3S3101;D3S3905;G32588;GDB:251823;GDB:606284;PMC18246P1;RH104037;SHGC-142550;SHGC-142572;SHGC-149368;SHGC-149773;SHGC-153389;SHGC-30332;SHGC-32456;SHGC-77009 CACH3;CACN4;CACNL1A2;CCHL1A2;Cav1.3;SANDD OTTHUMP00000212730;OTTHUMP00000212731;OTTHUMP00000212732;OTTHUMP00000212733;PASNA;calcium channel, L type, alpha-1 polypeptide, isoform 2;calcium channel, neuroendocrine/brain-type, alpha 1 subunit;voltage-dependent L-type calcium channel subunit alpha-1D;voltage-gated calcium channel alpha 1 subunit;voltage-gated calcium channel alpha subunit Cav1.3;voltage-gated calcium channel subunit alpha Cav1.3 protein-coding ENSG00000157388 HGNC:1391 00247 114206;614896;615474 REVIEWED 6770493 CACNA1G-AS1 CACNA1G antisense RNA 1 17 17 17 q21.33 45094930 45100831 - 48633568 48639469 - 50556207 50562108 - 12477932;8889548 253962 ABBA01041240;AC021491;AMYH02033595;BC041476;BU742796;H13333;NG_032024;NR_038439 Hs.558704 2145484 WI-22304 APPROVED ncrna ENSG00000250107 HGNC:27377 VALIDATED 10268 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] 12 12 12 p13.3 3770102 4421688 + 2079952 2807115 + 1970786 2697949 + 1580173;1580863;2311105;6480464;6907045;7204688;7240708;7240710;8554872;8699517 15863612;16868246;21746798;23091085 10022083;11206130;11438518;11438519;11461190;11576544;11741969;12130699;12163037;12166659;12176756;12477932;12593842;12832067;12962146;1316612;1330882;1335957;14140941;14702039;14722109;14981074;15140941;15141227;15170217;15299022;15339916;15454078;15583004;15671035;15728831;15749491;15845581;15916803;15953418;15980164;15980432;16020652;16157588;16285952;16299511;16319140;16338416;16382099;16483597;1650913;1653763;16610939;16648185;16820363;17071743;17110593;17173968;17224476;17593353;17916557;17942635;17950697;18174367;18250309;18317468;18359894;18535142;18535201;18536931;18596041;18603601;18618671;18675806;18711365;18836301;18927079;19065143;19095005;19106618;19205682;19215628;19225208;19265197;19279214;19343720;19351867;19388002;19492014;19520970;19620129;19621016;19625771;19687230;19717733;19781653;19913121;19916019;19952088;20031608;20066046;20098439;20169111;20201926;20226536;20301577;20301690;20351715;20351721;20371314;20379614;20424473;20628086;20636642;20638048;20677014;20679588;20719785;20723887;20817017;20819988;20924598;20953164;21042317;21057379;21078228;21098446;21134641;21145461;21186355;21282112;21292451;21352396;21395576;21464227;21487241;21519340;21521762;21664226;21665954;21676128;21685391;21712653;2173707;21767209;21788606;21810465;21926972;21926974;21931320;21998324;22012475;22085483;22100296;22142827;22261054;22464935;22490625;22590648;22614287;22614292;22647524;22665259;22688191;22705413;22914618;22957138;22985546;22990809;23222517;23406546;23437284;23437964;23453885;23557075;23575362;23677916;23680436;23728906;23733657;23771339;23804206;23860750;23880959;23900723;23948586;23948887;23973784;23974872;24026422;24108394;24240197;24275578;24280982;24315451;24355530;24365142;7737988;7959794;8099908;8392192;8612821;8619474;8664319;9013606;9087614;9110174;9247274;9607315;9668070 775 E9PDI6;F5GY28;F5H0X0;F5H522;F5H638;Q13936;Q59GU3;Q5V9X9 AB209016;ABBA01048802;ABBA01048803;ABBA01048804;ABBA01048805;ABBA01048806;ABBA01048807;ABBA01048808;ABBA01048809;ABBA01048810;ABBA01048811;ABBA01048812;AC005293;AC005342;AC005344;AC005414;AC005866;AC006051;AC007618;AF070589;AF465484;AJ224873;AJ536834;AJ537510;AK092125;AK302698;AK308652;AK309111;AMYH02025880;AMYH02025881;AMYH02025882;AMYH02025883;AMYH02025884;AMYH02025885;AY129012;AY562395;AY562396;AY604867;AY830711;AY830712;AY830713;BC093695;BC146846;CH471116;KF455573;KF455574;KF455578;L04568;L29529;L29534;L29536;M57971;M57972;M61130;M91370;M92269;NG_008801;NM_000719;NM_001129827;NM_001129829;NM_001129830;NM_001129831;NM_001129832;NM_001129833;NM_001129834;NM_001129835;NM_001129836;NM_001129837;NM_001129838;NM_001129839;NM_001129840;NM_001129841;NM_001129842;NM_001129843;NM_001129844;NM_001129846;NM_001167623;NM_001167624;NM_001167625;NM_199460;XM_006719015;XM_006719016;XM_006719017;Z26257;Z26294;Z26295;Z26308;Z34809;Z34810;Z34811;Z34812;Z34813;Z34814;Z34815;Z34816;Z34817;Z34818;Z34819;Z34820;Z34821;Z34822;Z74996 AAA02500;AAA17030;AAA51899;AAA51900;AAA51901;AAA58409;AAA62832;AAA74590;AAB59461;AAC28649;AAH93695;AAI46847;AAM70049;AAM98755;AAT02226;AAT67986;AAT67987;AAX37354;AAX37355;AAX37356;BAD92253;BAH13781;CAA12174;CAA81218;CAA81219;CAA84340;CAA84341;CAA84342;CAA84343;CAA84344;CAA84345;CAA84346;CAA84347;CAA84348;CAA84349;CAA84350;CAA84351;CAA84352;CAA84353;CAA99284;CAD61168;CAD61169;EAW88895;EAW88896;EAW88897;EAW88898;EAW88899;EAW88900;EAW88901;EAW88902;EAW88903;EAW88904;EAW88905;EAW88906;EAW88907;EAW88908;EAW88909;EAW88910;NP_000710;NP_001123299;NP_001123301;NP_001123302;NP_001123303;NP_001123304;NP_001123305;NP_001123306;NP_001123307;NP_001123308;NP_001123309;NP_001123310;NP_001123311;NP_001123312;NP_001123313;NP_001123314;NP_001123315;NP_001123316;NP_001123318;NP_001161095;NP_001161096;NP_001161097;NP_955630;Q13936;XP_006719078;XP_006719079;XP_006719080 Hs.118262;Hs.690010 1334589;1337399;1340038;1341339;1654910;1659697;1661476;1665757;1669620;1671597;1683014;1684056;1693864;1693866;1693868;1693870;1693872;1698220;1705432;1724607;1731847;1734010;1734014;1742899;1748497;1752493;1754557;1759175;1759493;1766823;1770738;1772105;1778617;1852594;2116259;2117757;2118412;2124175;2132832;2132834;2146373;2153856;2154442;2155803;2155978;2156996;2161177;2177027;2177105;5016899;5491314;5493349;7185055;7185413;7187837 A001U36;AF045313;D12S100;D12S1076;D12S1092;D12S1094;D12S1096;D12S1108;D12S1113;D12S1116;D12S1117;D12S1392E;D12S1443;D12S1615;D12S1689;D12S1694;D12S2044;D12S2049;D12S2051;D12S381E;G17659;G19668;G30965;G41239;G42621;G42623;G42624;G42625;G42626;GDB:214834;RH102646;RH121301;RH25054;RH27134;RH44512;RH44799;RH48669;RH78411;RH93423;SHGC-106399;SHGC-132840;SHGC-150871;SHGC-151138;SHGC-152191;SHGC-30605;SHGC-37464;SHGC-57441;SHGC-6998;SHGC-83797;STS-H29303;UniSTS:485794;WI-18742;WI-3910 CACH2;CACN2;CACNL1A1;CCHL1A1;CaV1.2;LQT8;MGC120730;TS DHPR, alpha-1 subunit;OTTHUMP00000196730;OTTHUMP00000196731;OTTHUMP00000196732;OTTHUMP00000196733;OTTHUMP00000196734;OTTHUMP00000196735;OTTHUMP00000196736;OTTHUMP00000196737;OTTHUMP00000196738;OTTHUMP00000196739;OTTHUMP00000196740;OTTHUMP00000196741;OTTHUMP00000196742;OTTHUMP00000196743;OTTHUMP00000196744;OTTHUMP00000196746;OTTHUMP00000196747;OTTHUMP00000196748;OTTHUMP00000196749;OTTHUMP00000196750;OTTHUMP00000196751;OTTHUMP00000238277;OTTHUMP00000238278;OTTHUMP00000238479;calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle;calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle;calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit;calcium channel, voltage-dependent, alpha 1c subunit;voltage-dependent L-type Ca2+ channel alpha 1 subunit;voltage-dependent L-type calcium channel subunit alpha-1C;voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*;voltage-gated calcium channel alpha subunit Cav1.2;voltage-gated calcium channel subunit alpha Cav1.2 APPROVED protein-coding ENSG00000151067 HGNC:1390 00246 114205;601005;611875 REVIEWED 731992 CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013] X X X p11.23 52574536 52602846 + 49061523 49089833 - 49205063 49233371 - 734671;1580863;6480464;6907045;7240710;7204688;8554872;8699517 12111638;21746798 10873387;10900517;11281458;11381068;12187427;12552565;12719097;12807962;12853422;12860808;12954628;14973233;15452577;15634789;15761389;15772651;15807819;15897456;16085774;16382099;16476079;16505158;16921373;16960802;17474147;17525176;17651254;17949918;18206315;19029287;19717559;20139964;20301423;20398921;20801516;21920492;22069316;22194652;22735794;22744390;22936811;23219801;23714322;24124559;24796500;7571473;7633454;8889548;8889549;8933343;9344658;9529339;9662399;9662400 778 H7C549;O60840 AA019975;ABBA01046135;ABBA01046136;ABBA01046137;ABBA01046138;ABBA01046139;ABBA01046140;ABBA01046141;AC232271;AF067227;AF196779;AF201304;AF235097;AJ006216;AJ224874;AMYH02039324;BM931932;CH471224;JF701915;NG_009095;NM_001256789;NM_001256790;NM_005183;U93305 AAB92359;AAD03587;AAF15290;AED89557;CAA06916;CAA12175;EAW50677;EAW50678;EAW50679;EAW50680;EAW50681;EAW50682;EAW50683;NP_001243718;NP_001243719;NP_005174;O60840 Hs.632799 1298117;1298195;1338510 D2S1788;D2S405;DXS8060 AIED;COD3;COD4;CORDX;CORDX3;CSNB2;CSNB2A;CSNBX2;Cav1.4;Cav1.4alpha1;JM8;JMC8;OA2 Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2);OTTHUMP00000024299;OTTHUMP00000032032;OTTHUMP00000216983;calcium channel, voltage-dependent, alpha 1f subunit;voltage gated calcium channel alpha 1F subunit;voltage-dependent L-type calcium channel subunit alpha-1F;voltage-gated calcium channel subunit alpha Cav1.4 APPROVED protein-coding ENSG00000102001 HGNC:1393 02119 300071;300110;300476;300600 REVIEWED 1349571 CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 3 3 3 p21.1 54123406 55075102 + 54156620 55108584 + 54122593 55074557 + 1580863;6480464;6907045;8554872 10737800;11245980;11329013;12181424;12477932;17937436;18519826;18588891;19240061;20379614;20889312;21074052;22395973;22542470;22644305;23324578;23560067;23649311;23870195;24096698;24315451;24375517 55799 B4DSF6;C9JAV5;F8WAV4;Q8IZS8 ABBA01024457;ABBA01024458;ABBA01024459;ABBA01024460;ABBA01024461;ABBA01024462;ABBA01024463;ABBA01024464;ABBA01024465;ABBA01024466;AC092057;AC092797;AC104298;AC109581;AC109584;AC115282;AC133010;AC137673;AC138059;AF516696;AJ272213;AJ272268;AK299718;AK307449;AMYH02006833;AMYH02006834;AMYH02006835;AMYH02006836;AMYH02006837;AMYH02006838;AMYH02006839;AW905454;BC137502;BC137505;BE702896;BE768691;BG206136;BG213431;BI753834;CH471055;KF457637;NM_018398;XM_005265318;XM_005265319;XR_245150;XR_427281;XR_427282 AAI37503;AAI37506;AAN06673;BAG61618;CAB75878;CAB75962;EAW65303;EAW65304;NP_060868;Q8IZS8;XP_005265375;XP_005265376 Hs.656687 1336638;1337433;1340199;1340468;1340768;1340899;1341411;1650001;1664899;1670484;1672915;1677446;1699166;1701028;1706170;1716035;1718179;1718327;1723219;1729978;1730081;1731299;1731855;1751447;1751809;1752059;1759701;1759723;1762931;1763441;1766515;1784588;1784594;1784782;1784818;2110465;2120416;2124649;2131348;2143540;2159403;2160142;2185520;5093292;7185554;7187578 A009K48;AFMA048XB9;D3S1236;D3S1241;D3S1289;D3S1447;D3S1582;D3S1613;D3S2567E;D3S3080;D3S3660;D3S3666;D3S3672;D3S4050;D3S4145;D3S717;G16563;G32633;HT017__7511;RH103162;RH104141;RH120956;RH122293;RH122858;RH122935;RH26835;RH65515;RH78885;SHGC-105280;SHGC-105801;SHGC-106008;SHGC-111457;SHGC-111488;SHGC-146684;SHGC-147153;SHGC-149832;SHGC-150991;SHGC-150992;SHGC-155025;SHGC-155305;SHGC-77015;SHGC-80609;STS-AA101173;WI-21592 HSA272268 OTTHUMP00000213118;OTTHUMP00000213119;calcium channel alpha2-delta3 subunit;calcium channel, voltage-dependent, alpha 2/delta 3 subunit;voltage-dependent calcium channel subunit alpha-2/delta-3;voltage-gated calcium channel subunit alpha-2/delta-3 APPROVED protein-coding ENSG00000157445 HGNC:15460 05907 606399 REVIEWED 68989 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011] 17 17 17 q22 45099811 45165917 + 48638429 48704835 + 50561068 50629625 + 68747;68748;68746;1580863;2316207;6480464;6907045;7204688;8554872 10615950;11073957;14615287;21746798;9495342 10493502;10548410;10574461;10648811;10692398;11927664;12168954;12477932;12676336;12752779;15465033;15774856;16382099;16671074;16713569;17397049;17446221;17591929;18591418;18663131;18663132;18801335;19211869;19455149;20416077;20435690;21438841;21788606;22469755;22572848;22574369;22973059;22973060;23488970;23535033;24268883;24722188 8913 H0YAN0;I3L2W8;O43497 AB012043;AB032949;ABBA01041240;ABBA01041241;ABBA01041242;ABBA01041243;AC004590;AC021491;AF029228;AF029229;AF124351;AF126965;AF126966;AF134985;AF134986;AF190860;AF227744;AF227745;AF227746;AF227747;AF227748;AF227749;AF227750;AF227751;AK296513;AMYH02033595;AMYH02033596;BC110995;CH471109;DQ494449;DQ494450;DQ494451;DQ494452;DQ494453;DQ494454;DQ494455;DQ494456;DQ494457;DQ494458;DQ494459;DQ494460;DQ494461;DQ494462;DQ494463;DQ494464;DQ494465;DQ494466;DQ494467;DQ494468;DQ494469;DQ494470;DQ494471;DQ494472;DQ494473;DQ494474;DQ494475;DQ494476;DQ494477;DQ494478;DQ494479;FB571393;FB571395;FB571397;FB571399;FB571401;FB571403;FB571405;FB571407;FB571409;FB571411;FB571413;FB571415;FB571417;FB571419;FB571421;KJ534993;KJ535064;NG_032024;NM_001256324;NM_001256325;NM_001256326;NM_001256327;NM_001256328;NM_001256329;NM_001256330;NM_001256331;NM_001256332;NM_001256333;NM_001256334;NM_001256359;NM_001256360;NM_001256361;NM_018896;NM_198376;NM_198377;NM_198378;NM_198379;NM_198380;NM_198382;NM_198383;NM_198384;NM_198385;NM_198386;NM_198387;NM_198388;NM_198396;NR_046054;NR_046055;NR_046056;NR_046057;NR_046058;R43876;XM_006722160;XM_006722161 AAD12731;AAD12732;AAD29400;AAD29401;AAD34352;AAF19346;AAF19347;AAF35287;AAF37689;AAF37690;AAF37691;AAF37692;AAF37693;AAF37694;AAF37695;AAF37696;AAI10996;ABF69900;ABF69901;ABF69902;ABF69903;ABF69904;ABF69905;ABF69906;ABF69907;ABF69908;ABF69909;ABF69910;ABF69911;ABF69912;ABF69913;ABF69914;ABF69915;ABF69916;ABF69917;ABF69918;ABF69919;ABF69920;ABF69921;ABF69922;ABF69923;ABF69924;ABF69925;ABF69926;ABF69927;ABF69928;ABF69929;ABF69930;AHW56633;AHW56703;BAA36409;BAA86437;BAG59145;CAR95114;CAR95115;CAR95116;CAR95117;CAR95118;CAR95119;CAR95120;CAR95121;CAR95122;CAR95123;CAR95124;CAR95125;CAR95126;CAR95127;CAR95128;EAW94596;EAW94597;EAW94598;EAW94599;EAW94600;EAW94601;NP_001243253;NP_001243254;NP_001243255;NP_001243256;NP_001243257;NP_001243258;NP_001243259;NP_001243260;NP_001243261;NP_001243262;NP_001243263;NP_001243288;NP_001243289;NP_001243290;NP_061496;NP_938190;NP_938191;NP_938192;NP_938193;NP_938194;NP_938196;NP_938197;NP_938198;NP_938199;NP_938200;NP_938201;NP_938202;NP_938406;O43497;XP_006722223;XP_006722224 Hs.591169 2128157;2169146;5095171;5114024;5491946 CACNA1G-1;CACNA1G-SNP1;D17S747;RH78047;RH93018 Ca(V)T.1;Cav3.1;MGC117234;NBR13 OTTHUMP00000221509;OTTHUMP00000221510;OTTHUMP00000221511;OTTHUMP00000221512;OTTHUMP00000221513;OTTHUMP00000221514;OTTHUMP00000221515;OTTHUMP00000221516;OTTHUMP00000221517;OTTHUMP00000221518;OTTHUMP00000221560;OTTHUMP00000221561;OTTHUMP00000221562;OTTHUMP00000221563;OTTHUMP00000221564;OTTHUMP00000221565;OTTHUMP00000221566;OTTHUMP00000221567;OTTHUMP00000221568;OTTHUMP00000221569;OTTHUMP00000221570;OTTHUMP00000221572;OTTHUMP00000221573;OTTHUMP00000221574;OTTHUMP00000221575;OTTHUMP00000221590;OTTHUMP00000221591;OTTHUMP00000221592;OTTHUMP00000221593;OTTHUMP00000221594;calcium channel, voltage-dependent, T type, alpha-1G subunit;calcium channel, voltage-dependent, alpha 1G subunit;cav3.1c;voltage-dependent T-type calcium channel alpha 1G subunit;voltage-dependent T-type calcium channel subunit alpha-1G;voltage-dependent calcium channel alpha 1G subunit, isoform 11;voltage-gated calcium channel subunit alpha Cav3.1 APPROVED protein-coding ENSG00000006283 HGNC:1394 04961 604065 REVIEWED 68996 CACNA1I calcium channel, voltage-dependent, T type, alpha 1I subunit This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 22 22 22 q13.1 23768830 23887794 + 39966758 40085740 + 39570753 39689738 + 1580863;6480464;6907045;7204688;8554872 21746798 10454147;10574461;10591208;10749850;11927664;12080115;12477932;15174051;15254077;16382099;16740636;16939858;17535809;18591418;22883433;23382691;23488970 8911 Q9P0X4 AB032946;ABBA01055578;ABBA01055579;ABBA01055580;ABBA01055581;ABBA01055582;ABBA01055583;AF129133;AF142567;AF211189;AF393329;AL008716;AL022312;AL022319;AMYH02038386;AMYH02038387;BC042972;CH471095;KF457459;N52765;NM_001003406;NM_021096;XM_006724348 AAD45251;AAF25722;AAF44626;AAM67414;BAA86434;EAW60345;EAW60346;EAW60347;EAW60348;EAW60349;EAW60350;EAW60351;NP_001003406;NP_066919;Q9P0X4;XP_006724411 Hs.125116 1684445;1711494;1733238;1747503;1747505;2148448;2149341;5021978 D22S578;D22S645;G10206;G49248;G65375;G65376;RH75338;contig_249751 Cav3.3;KIAA1120;ca(v)3.3 OTTHUMP00000199122;OTTHUMP00000199123;OTTHUMP00000199124;OTTHUMP00000199125;ca(v)3.3;calcium channel, voltage-dependent, alpha 1I subunit;voltage-dependent T-type calcium channel subunit alpha-1I;voltage-gated calcium channel subunit alpha Cav3.3 APPROVED protein-coding ENSG00000100346 HGNC:1396 10500 608230 REVIEWED 737609 CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] 3 3 3 p21.3 50373061 50513724 - 50400230 50540892 - 50362799 50503461 - 1580863;6480464;6907045 10762351;10766861;11085536;11292331;11851383;12477932;12555074;12771254;15027117;15033513;15111129;15331424;16344560;17135419;19927152;20561025;21651903;21809394;21906983;23339110;23402298;24358150;9628581 9254 C9JE82;C9JVC9;Q9NY47 AB011130;ABBA01024546;ABBA01024547;ABBA01024548;ABBA01024549;AF040709;AF042792;AF042793;AJ251367;AJ251368;AK074820;AK310138;AL450422;AMYH02006769;AMYH02006770;AMYH02006771;AW451435;AW952467;BC152438;BF373910;CH471055;DA760583;KF457634;NG_034070;NM_001005505;NM_001174051;NM_001291101;NM_006030;XM_005265581;Z75742;Z75743;Z84492;Z84494;Z84495 AAB96913;AAB96914;AAC70914;AAI52439;BAA25484;CAB86192;CAB86193;EAW65118;EAW65119;EAW65120;EAW65121;NP_001005505;NP_001167522;NP_001278030;NP_006021;Q9NY47;XP_005265638 Hs.476273;Hs.674666 1338000;1682792;1793458;1793460;1793462;1793464;1793466;1793500;1793502;1795462;2174251;2179573;7185404 A006W17;CACNA2D2_1675;D3S1568;PMC22669P10;PMC22669P11;PMC22669P12;PMC22669P13;PMC22669P14;PMC22669P8;PMC22669P9;RH47509;RH80071 CACNA2D;KIAA0558;LUAC11.1 OTTHUMP00000210930;OTTHUMP00000210931;OTTHUMP00000210932;OTTHUMP00000210933;OTTHUMP00000212538;OTTHUMP00000212539;alpha 2 delta calcium channel subunit;calcium channel, voltage dependent, alpha2/delta subunit 2;gene 26;voltage-dependent calcium channel subunit alpha-2/delta-2;voltage-gated calcium channel subunit alpha-2/delta-2 APPROVED protein-coding ENSG00000007402 HGNC:1400 06154 607082 REVIEWED 6481194 CACNA2D3-AS1 CACNA2D3 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 3 3 54908632 54935282 - 54874605 54901255 - 8554872 14702039 100874237 ABBA01024460;ABBA01024461;AC109584;AK092143;AMYH02006838;HG495688;KF457637;NR_046666 Hs.570583 FLJ34824;RP11-674P14.1 APPROVED ncrna ENSG00000243715 HGNC:40702 PREDICTED 68993 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1418957 1487666 + 1203241 1271772 + 1153241 1221772 + 1358447;1580863;6480464;6907045;7240710;7204688;8554872 12891677;21746798 10414291;10861024;11157797;11751928;11799114;11927664;12808460;12853961;14529577;14602827;14631046;14729682;15498803;15616553;15833171;15852375;16133267;16301824;16303743;16377633;16382099;16443692;16475676;16504478;16565161;16754686;16905256;16973746;17081983;17156077;17215393;17696120;18218623;18230611;18309285;18591418;18708747;19131331;19144837;19336002;19342457;19609347;19641113;19903827;19948975;20147652;20201926;20699644;21059758;21084288;21099341;21438841;21788606;22130660;22469755;22564432;22572848;22574369;23111027;23488970;23503728;23602568;23626738;23669360;23671274;23849427;23903007;23970551;24508802;8619474;9110174;9670923;9930755 8912 B3KQH9;H3BMW6;H3BNT0;H3BPX6;H3BUA8;O95180 ABBA01030324;ABBA01030325;ABBA01030326;ABBA01030327;ABBA01030328;ABBA01030329;AC120498;AE006466;AF051946;AF070604;AF073931;AF223560;AF223561;AF223562;AF223563;AJ420779;AK074965;AL031703;AL031715;AMYH02031216;AMYH02031217;AMYH02031218;AMYH02031219;AMYH02031220;AMYH02031221;AMYH02031222;AMYH02031223;BM554380;CA335096;CD243650;CH471112;DQ363526;DQ363527;DQ363528;DQ363529;NG_012647;NM_001005407;NM_021098;XM_005255652;XM_006720963;XM_006720964;XM_006720965;XM_006720966;XM_006720967;XM_006720968;XM_006720969 AAC67239;AAD17668;AAF60160;AAF60161;AAF60162;AAF60163;AAK61268;ABC88009;ABC88010;ABC88011;ABC88012;BAG52041;CAC42094;CAD12646;EAW85683;EAW85684;NP_001005407;NP_066921;O95180;XP_005255709;XP_006721026;XP_006721027;XP_006721028;XP_006721029;XP_006721030;XP_006721031;XP_006721032 Hs.459642 1795460 CACNA1H_1248 CACNA1HB;Cav3.2;ECA6;EIG6;FLJ90484 calcium channel, voltage-dependent, T type, alpha 1Hb subunit;low-voltage-activated calcium channel alpha1 3.2 subunit;low-voltage-activated calcium channel alpha13.2 subunit;voltage dependent t-type calcium channel alpha-1H subunit;voltage-dependent T-type calcium channel subunit alpha-1H;voltage-gated calcium channel alpha subunit Cav3.2;voltage-gated calcium channel alpha subunit CavT.2;voltage-gated calcium channel subunit alpha Cav3.2 APPROVED protein-coding ENSG00000196557 HGNC:1395 07442 607904;611942 REVIEWED 731942 CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 7 7 7 q21-q22 76279569 76773517 - 81575760 82073031 - 81946444 82443715 - 1580863;6480464;6907045;8554872 10534405;11160515;12477932;12853948;1309651;14602720;14702039;16335952;17224476;17438119;19001023;19056867;19106618;19240061;20301690;20360068;20379614;20579869;20708005;20817017;20848476;20889312;21383000;21464332;22939629;23006423;23242029;23251661;23414114;23665963;23934736;24159190;24329154;2458626;7951247;8107964;8188232;9847074 781 B7Z658;E7ERK3;H0Y715;P54289;Q9UIU0 ABBA01058068;ABBA01058069;ABBA01058070;ABBA01058071;ABBA01058072;ABBA01058073;ABBA01058074;ABBA01058075;ABBA01058076;ABBA01058077;AC004892;AC004970;AC004989;AC005159;AC006145;AC008283;AF083854;AK092048;AK299838;AL707206;AL833141;AMYH02016156;AMYH02016157;AMYH02016158;AMYH02016159;AMYH02016160;AMYH02016161;AMYH02016162;AMYH02016163;AMYH02016164;BC051339;BC117468;BC117470;BG055272;BI545104;BU501177;CH236949;CH471091;KF458487;M76559;NG_009358;NM_000722;XM_005250570;XM_005250572;XM_005250573;XM_005250574;XM_006716118;XM_006716119;XM_006716120;XM_006716121;Z28599 AAA51903;AAC78619;AAD20938;AAD51454;AAF03259;AAF19234;AAI17469;AAI17471;BAH13144;EAW76990;NP_000713;P54289;XP_005250627;XP_005250629;XP_005250630;XP_005250631;XP_006716181;XP_006716182;XP_006716183;XP_006716184 Hs.282151;Hs.743228 1341053;1648249;1673622;1696796;1696808;1708108;1713441;1720267;1750365;1752897;2106967;2116140;2139677;2140878;2146283;2172465 CACNA2D1__2648;CACNL2A;D7S1435;D7S1507;D7S1996;G49141;G49147;GDB:1318495;RH119578;RH123882;RH17738;SHGC-106835;SHGC-112539;SHGC-81452;UD2;WI-7124 CACNA2;CACNL2A;CCHL2A;LINC01112;lncRNA-N3 OTTHUMP00000161364;calcium channel, L type, alpha 2 polypeptide;calcium channel, voltage-dependent, alpha2/delta subunit 1;dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit;long intergenic non-protein coding RNA 1112;voltage-dependent calcium channel subunit alpha-2/delta-1;voltage-gated calcium channel subunit alpha-2/delta-1 APPROVED protein-coding ENSG00000153956 HGNC:1399 00245 114204 REVIEWED 736857 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] 1 1 1 q32 174132677 174205677 - 201008635 201081694 - 201039507 201112566 - 1300372;1300373;1580863;6480464;6907045;7240710;7204688;8554872;8699517 21746798;7847370;9199552 11206130;12477932;12496092;12636044;1322891;14660679;15072700;15711422;15716625;15726306;16382099;17204937;17418573;17587224;18229654;19118277;19134469;19187971;19191329;19779499;19825159;20301325;20301512;20379614;20424473;20618440;20861472;21248738;21262876;21774221;21841462;21845430;21855088;21931568;22140091;22863883;22927026;23788249;24013571;2844809;3037387;7713519;7897626;7916735;7987325;8004673;8118099;8188298;8592342;8838325;9175745;9668070;9852570 779 B1ALM3;Q13698 ABBA01027535;ABBA01027536;ABBA01027537;AL139159;AL358473;AMYH02002475;AMYH02002476;BC133671;CH471067;KF455130;L33798;NG_009816;NM_000069;U09784;U14413;U18986;U30707;XM_005245478 AAA20531;AAA51902;AAB37235;AAC50397;AAC50398;AAI33672;EAW91333;EAW91334;EAW91335;NP_000060;Q13698;XP_005245535 Hs.1294 1692468;1742327;1743783;1765531;1797342;2116210;2131635;2154837;2157615;2182480;5491870 AL033885;CACNA1S;CACNA1S_2396;D1S3520;G09493;GDB:196341;GDB:373596;RH71040;SHGC-149005;SHGC-76114;SHGC-76141 CACNL1A3;CCHL1A3;Cav1.1;HOKPP;HOKPP1;MHS5;TTPP1 OTTHUMP00000033931;OTTHUMP00000033932;calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis);calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle;dihydropyridine receptor;dihydropyridine-sensitive L-type calcium channel alpha-1 subunit;hypoPP;voltage-dependent L-type calcium channel subunit alpha-1S;voltage-gated calcium channel subunit alpha Cav1.1 APPROVED protein-coding ENSG00000081248 HGNC:1397 00248 114208;170400;188580;601887 REVIEWED 68552 CACNB1 calcium channel, voltage-dependent, beta 1 subunit The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q21-q22 33990617 34014805 - 37329709 37353956 - 39173456 39197703 - 734675;1580863;6480464;6907045;7204688;8554872 21746798;8395940 10066897;10465427;10624822;12477932;1309651;1370480;1385409;14623965;14760703;14762176;15342556;1657644;16713569;17081983;19821165;19953087;21098446;21832049;21906983;23382691;23602568;7916667;8381767;8905728;8943043 782 Q02641 AA694045;AB054985;AB209176;ABBA01031881;ABBA01031882;ABBA01031883;AC004408;AK127283;AK289729;AK297643;AK300666;AK312385;AMYH02033373;AY393857;BC037311;BP217857;CH471152;L06110;L06111;L06112;M76560;M92301;M92302;M92303;NM_000723;NM_199247;NM_199248;U86960;XM_005257645;XM_005257646;XM_005257647;XM_006722072;Z21725;Z21726 AAA35631;AAA35632;AAA35633;AAA36167;AAA36168;AAA36169;AAA51894;AAB58779;AAB58780;AAB58781;AAH37311;AAQ97605;ABM82614;ABW03409;BAB21444;BAD92413;BAF82418;BAG54473;BAH12640;BAH13323;CAA79824;CAA79825;EAW60556;EAW60557;EAW60558;EAW60559;EAW60560;EAW60561;EAW60562;EAW60563;EAW60564;NP_000714;NP_954855;NP_954856;Q02641;XP_005257702;XP_005257703;XP_005257704;XP_006722135 Hs.635 1739465;1777354;2117361;2157438;5017975;5018097 CACNB1;D17S1655;G73122;RH12690;RH71354;WI-7808 CAB1;CACNLB1;CCHLB1;MGC41896 OTTHUMP00000164286;OTTHUMP00000164287;calcium channel voltage-dependent subunit beta 1;calcium channel, L type, beta 1 polypeptide;dihydropyridine-sensitive L-type, calcium channel beta-1 subunit;voltage-dependent L-type calcium channel subunit beta-1 APPROVED protein-coding ENSG00000067191 HGNC:1401 11743 114207 REVIEWED 1346782 CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 12 12 12 p13.33 3508846 3635489 - 1901123 2027870 - 1791957 1918704 - 1580863;6480464;6907045;7240710;8554872;8699517 12181424;12477932;17033974;20379614;22488967;23942779;24324551 93589 B4DVU4;E7EUE0;K7EIY9;K7EJY1;K7ER25;K7ER98;Q7Z3S7;X6RLU5;X6RLY7 AA001411;ABBA01048814;ABBA01048815;ABBA01048816;ABBA01048817;AC005342;AC005343;AF516695;AI160471;AK301234;AL137658;AMYH02025877;AMYH02025878;AMYH02025879;BC048288;BC150186;BI908421;BX457018;BX537436;BX537437;CA443847;CH471116;KC877505;NG_012663;NM_172364;XR_242992 AAH48288;AAI50187;AAN06672;ACE86813;ACE87500;BAG62806;CAD97678;CAD97679;EAW88918;EAW88919;EAW88920;NP_758952;Q7Z3S7 Hs.13768 1693860;1756447;2120191;2175247;2181730;2217096 CACNA2D4_497;G09509;G42619;RH11342;SHGC-143451;SHGC-53029 RCD4 OTTHUMP00000237961;OTTHUMP00000237964;voltage-dependent calcium channel subunit alpha-2/delta-4;voltage-gated calcium channel alpha(2)delta-4 subunit;voltage-gated calcium channel subunit alpha-2/delta-4 APPROVED protein-coding ENSG00000151062 HGNC:20202 12182 608171;610478 REVIEWED 732576 CACNB2 calcium channel, voltage-dependent, beta 2 subunit This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013] 10 10 10 p12 18116041 18517577 + 18429373 18830688 + 18140677 18541759 + 734673;6480464;6907045;7240710;7204688;7240708;8554872;8699517 21746798;23091085;9254841 10066897;10441130;10465427;10567342;10623591;12042350;12477932;12719232;1309651;14623965;14702039;14762176;15339916;16344560;16385451;17224476;17525370;18464913;18519826;18676988;19106618;19197348;19241460;19358333;19430479;20025708;20201926;20301690;20379614;20386566;20414254;20479155;20677014;20817017;21045733;21156931;21909110;21909115;21963141;22090166;23251661;23319000;23414114;23453885;23704328;23974872;24338417;8107964;8395157;8494331;8889549;9252229;9461395;9594024;9757060 783 A6PVM6;AAB27916;Q08289;Q59H42;Q5VVH1 AB208917;ABBA01034537;ABBA01034538;ABBA01034539;ABBA01034540;ABBA01034541;ABBA01034542;AF137376;AF137377;AF285239;AF423189;AF423190;AF423191;AF423192;AF465485;AK021994;AK022426;AK128769;AK293837;AK293937;AK295113;AK296471;AK299873;AK307526;AK307800;AK310943;AK311694;AL119895;AL139814;AL162054;AL353603;AL360231;AL390783;AL450364;AL450384;AL599294;AL600557;AMYH02022371;AMYH02022372;AMYH02022373;AMYH02022374;AMYH02022375;AMYH02022376;AMYH02022377;AMYH02022378;AY027898;AY393858;AY393859;AY393860;AY393861;AY393862;AY393863;AY675091;AY675092;BC136409;BM312516;CH471072;DB235418;DC307859;DC352526;NG_016195;NM_000724;NM_001167945;NM_201570;NM_201571;NM_201572;NM_201590;NM_201593;NM_201596;NM_201597;S60415;U95019;XM_005252588;XM_005252591;XM_006717502 AAB27916;AAB51370;AAB53332;AAD33729;AAD33730;AAG01473;AAI36410;AAK16994;AAL16948;AAL16949;AAL16950;AAL16951;AAL73495;AAQ97606;AAQ97607;AAQ97608;AAQ97609;AAQ97610;AAQ97611;AAV49501;AAV49502;BAD92154;BAH11608;BAH11631;BAH11979;BAH12366;BAH13158;EAW86193;EAW86194;EAW86195;EAW86196;EAW86197;NP_000715;NP_001161417;NP_963864;NP_963865;NP_963866;NP_963884;NP_963887;NP_963890;NP_963891;Q08289;XP_005252645;XP_005252648;XP_006717565 Hs.59093 1339504;1650522;1656293;1668547;1700486;1709914;1713267;1740853;1768487;1782030;1782092;2123681;2155677;2166623;2174633;5016851;5017266;5020948;5109281;7184452;7187966 A008O21;D10S2318;D10S2356;D10S548;D1S1425;G15938;G35510;L18506;RH103864;RH120624;RH17936;RH44603;RH80031;SHGC-149805;SHGC-154459;SHGC-30313;SHGC-35043;SHGC-84814;STS-S60415 CAB2;CACNLB2;CAVB2;FLJ23743;MYSB OTTHUMP00000019254;OTTHUMP00000019255;OTTHUMP00000019256;OTTHUMP00000019257;OTTHUMP00000019258;OTTHUMP00000196783;OTTHUMP00000196784;OTTHUMP00000196786;calcium channel voltage-dependent subunit beta 2;lambert-Eaton myasthenic syndrome antigen B;myasthenic (Lambert-Eaton) syndrome antigen B;voltage-dependent L-type calcium channel subunit beta-2 APPROVED protein-coding ENSG00000165995 HGNC:1402 02473 600003;611876 REVIEWED 68558 CACNB4 calcium channel, voltage-dependent, beta 4 subunit This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 2 2 2 q22-q23 146303966 146570260 - 152689285 152955593 - 151832771 152099079 - 734674;1580863;6480464;6907045;7240710;7204688;8554872;8699517 10762541;21746798 10212211;11880487;12477932;14623965;15170217;15342556;15489334;16169070;16344560;16385006;16525042;16866717;17618603;18446307;18712068;18755274;19807924;20200978;20301317;20301674;21220418;21297076;22892567;23756480;24025145;8825650;9252229;9254840;9254841;9442082;9530629;9628818;9757060 785 C9J224;E7DBM8;E7EN11;F8WA06;H0Y476;O00305 AB302276;ABBA01004782;ABBA01004783;ABBA01004784;ABBA01004785;ABBA01004786;AC068547;AC079790;AC097448;AF038852;AF075047;AF216867;AK290049;AK291378;AK294398;AK316045;AL700210;AMYH02004987;AMYH02004988;AMYH02004989;AMYH02004990;AY054985;BC075049;BP229182;BP360802;BX279713;BX484858;BX648679;CH471058;DA782833;HQ214056;NG_012641;NM_000726;NM_001005746;NM_001005747;NM_001145798;T23939;U95020;XM_005246838;XM_006712731;XM_006712732 AAB53333;AAC24206;AAF61674;AAH75049;AAL14351;AAX82014;AAY14711;AAY14759;ADP09414;BAF73808;BAF82738;BAF84067;BAG57651;BAH14416;EAX11493;EAX11494;NP_000717;NP_001005746;NP_001005747;NP_001139270;O00305;XP_005246895;XP_006712794;XP_006712795 Hs.120725 1339368;1707734;1734974;1756393;1765687;1774475;1779190;1784234;1784238;1854083;2217098 CACNB4_2927;D2S1720E;D2S1751;D2S2236;SHGC-143363;SHGC-149129;SHGC-152741;SHGC-156047;SHGC-156071;SHGC-82083;WI-15038 CAB4;CACNLB4;EA5;EIG9;EJM;EJM4;EJM6 OTTHUMP00000207228;OTTHUMP00000207246;OTTHUMP00000207247;OTTHUMP00000207248;OTTHUMP00000207249;OTTHUMP00000209460;calcium channel voltage-dependent subunit beta 4;dihydropyridine-sensitive L-type, calcium channel beta-4 subunit;voltage-dependent L-type calcium channel subunit beta-4 APPROVED protein-coding ENSG00000182389 HGNC:1404 09057 601949;607682;613855 REVIEWED 735859 CACNB3 calcium channel, voltage-dependent, beta 3 subunit This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011] 12 12 12 q13 48008638 48018850 + 49208215 49222726 + 48814432 48828943 + 1580863;6480464;6907045;7204688 21746798 11160515;12181424;12477932;14702039;15028279;15170217;15489334;16344560;16525042;19807924;19917615;21926972;7557998;8119293;8494331;8617257;8621722;8825650 784 F8VNV8;F8VU10;F8VUW8;F8VV14;F8VWK1;F8W0F8;F8W1N3;H0YHK1;H0YHY2;P54284 ABBA01031488;AC117498;AK122911;AK289709;AK297639;AK300901;AK304537;AK316323;AL534844;AL537072;AL702978;AMYH02026427;BC041811;BI667991;CD013906;CH471111;D43704;DB277524;L27584;NG_030048;NM_000725;NM_001206915;NM_001206916;NM_001206917;U07139;X76555;X76556;XM_005269142;XM_006719590;XM_006719591;XM_006719592 AAA19799;AAA95958;AAH41811;BAA07803;BAF82398;BAH12637;BAH13371;BAH14209;BAH14694;CAA54055;CAA54056;EAW58008;EAW58009;NP_000716;NP_001193844;NP_001193845;NP_001193846;P54284;XP_005269199;XP_006719653;XP_006719654;XP_006719655 Hs.250712;Hs.737291 1770419;1770648;1795464;2146421;5492080 CACNB3_499;D12S2032;IB1472;MARC_42832-42833:1097693526:1;WI-18779 CAB3;CACNLB3;FLJ58949 OTTHUMP00000243673;OTTHUMP00000243674;OTTHUMP00000243678;OTTHUMP00000243679;OTTHUMP00000243681;calcium channel voltage-dependent subunit beta 3;voltage-dependent L-type calcium channel subunit beta-3 APPROVED protein-coding ENSG00000167535 HGNC:1403 11879 601958 REVIEWED 732630 CACNG1 calcium channel, voltage-dependent, gamma subunit 1 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010] 17 17 17 q24 61613382 61625583 + 65040652 65052913 + 67044536 67056797 + 734675;1580863;6480464;6907045 8395940 10613843;11170751;11738816;12477932;15489334;16344560;17652770;18187620;8111396;8387489;8404045;9186513 786 Q06432 ABBA01029014;AC005544;AF086300;AK313852;AMYH02033834;BC069493;BC113486;BC113492;CH471099;DA898357;L07738;NM_000727;Z19587;Z19603 AAA51904;AAH69493;AAI13487;AAI13493;ADR83392;BAG36580;CAA79671;CAB62573;EAW89022;NP_000718;Q06432 Hs.147989 1743011;1743027;1797344;2155864;2163205 CACNG1__2503;GDB:235907;GDB:250204;RH17604;SHGC-12505 CACNLG L-type calcium channel gamma polypeptide;dihydropyridine-sensitive L-type skeletal muscle calcium channel gamma subunit;dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma;neuronal dihydropyridine-sensitive calcium channel gamma subunit;voltage-dependent calcium channel gamma-1 subunit APPROVED protein-coding ENSG00000108878 HGNC:1405 00249 114209 REVIEWED 736548 CACNG3 calcium channel, voltage-dependent, gamma subunit 3 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010] 16 16 16 p12.1 23044814 23151626 + 24266874 24373737 + 24255553 24362416 + 1300374;1580863;6480464;6907045;8554872 10613843 10221464;10493829;11170751;12477932;14505496;14572453;14702039;15489334;17207965;17264864;17652770;18304745;20219255;21169531;21832049 10368 O60359 ABBA01017085;ABBA01017086;ABBA01017087;AC004125;AF100346;AF114832;AF134640;AK055453;AK095553;AK315150;AMYH02031717;AMYH02031718;BC033741;BC037899;BC040005;CH471145;H04803;NM_006539;XM_005255037 AAC15246;AAD22739;AAF42975;AAH37899;AAH40005;AAP97231;ADQ32452;BAG37598;BAG51520;BAG53082;EAW55793;EAW55794;NP_006530;O60359;XP_005255094 Hs.7235 1334547;1664447;1756945;1790219;2218744 CACNG3_4051;D16S672;SHGC-144113;SHGC-60568;URB036 Cacng2 OTTHUMP00000162423;TARP gamma-3;neuronal voltage-gated calcium channel gamma-3 subunit;transmembrane AMPAR regulatory protein gamma-3;voltage-dependent calcium channel gamma-3 subunit;voltage-gated calcium channel gamma subunit APPROVED protein-coding ENSG00000006116 HGNC:1407 05910 606403 REVIEWED 734378 CACNG5 calcium channel, voltage-dependent, gamma subunit 5 The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010] 17 17 17 q24 61446119 61454026 + 64831235 64881941 + 66877273 66885278 + 1300374;1580863;6480464;6907045;8554872 10613843 11170751;11738816;11927536;12477932;15489334;17652770;21057379 27091 Q9UF02 ABBA01029020;AC005988;AF142618;AF142619;AF142620;AF142621;AF148220;AF361351;AF458898;AK290171;AMYH02033829;AX101264;BC101607;BC101633;CH471099;KF511234;NM_145811 AAF00132;AAF03089;AAI01608;AAI01634;AAL50046;AAM00595;BAF82860;CAC36508;EAW89018;EAW89019;NP_665810;Q9UF02 Hs.278907 1797346 CACNG5_3025 MGC126656;MGC126682 OTTHUMP00000232948;TARP gamma-5;neuronal voltage-gated calcium channel gamma-5 subunit;transmembrane AMPAR regulatory protein gamma-5;voltage-dependent calcium channel gamma-5 subunit APPROVED protein-coding ENSG00000075429 HGNC:1409 05912 606405 REVIEWED 732322 CACNG8 calcium channel, voltage-dependent, gamma subunit 8 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51505965 51525810 + 54466290 54493469 + 53963036 53990215 + 1580863;6480464;6907045 11170751;11738816;14702039;17652770;18304745;18311135 59283 Q8WXS5 ABBA01068181;ABBA01068182;AC008440;AF234892;AF288388;AF361354;AK055160;AK131287;AMYH02036441;AMYH02036442;CH471135;NM_031895 AAI57120;AAI72268;AAK15019;AAK20031;AAL50049;EAW72168;NP_114101;Q8WXS5 Hs.631595 1336954;1800612;1801818;1808172;1812292;1814682;1818574;1825130;1832070;1833750;1836230;1837400;1837604;1838530;1838746;1843590;1843644;1843912;1844586;2103390;2103392;2103394;2103396;2103398;2103400;2103402;2103404;2103406;2103408;2103410;2103412;2103414;2103416;2131215;5015881;5016596;5016851;5022578;5037552;5037554;5117897 D1S1423;D6S1576;D8S2279;D8S2282;ECD01167;ECD01790;ECD05067;ECD07153;ECD08371;ECD10349;ECD13666;ECD17173;ECD18020;ECD19276;ECD19867;ECD19969;ECD20439;ECD20551;ECD23005;ECD23033;ECD23167;ECD23507;GDB:335751;GDB:631802;GDB:631813;RH80031;WI-22592;stSG605682;stSG605683;stSG605684;stSG605685;stSG605686;stSG605687;stSG605688;stSG605689;stSG605690;stSG605691;stSG605695;stSG605696;stSG605697;stSG605698 FLJ16240;FLJ30598 OTTHUMP00000067377;TARP gamma-8;neuronal voltage-gated calcium channel gamma-8 subunit;transmembrane AMPAR regulatory protein gamma-8;voltage-dependent calcium channel gamma-8 subunit APPROVED protein-coding ENSG00000142408 HGNC:13628 06063 606900 REVIEWED 1347642 CACTIN-AS1 CACTIN antisense RNA 1 19 19 19 p13.3 3547476 3553529 + 3607245 3613928 + 3607247 3613930 + 14702039;23251661 404665 Q8N1I8 ABBA01002835;AC005175;AK097999;AMYH02035259;HG510258;NR_038865 Q8N1I8 Hs.719726 2132848;2132850 A005X06;G20563 C19orf29-AS1;C19orf29OS APPROVED ncrna ENSG00000226800 HGNC:31391 VALIDATED 735845 CACNG6 calcium channel, voltage-dependent, gamma subunit 6 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51535226 51555565 + 54494403 54515920 + 53991149 54012666 + 1580863;6480464;6907045 11170751;11738816;12477932;15489334;17652770;20860846 59285 A6NFR2;A6NP74;Q9BXT2 ABBA01068180;ABBA01068181;AC008440;AF288386;AF361352;AMYH02036442;AMYH02036443;BC021552;BX281606;CH471135;NM_031897;NM_145814;NM_145815;NR_102308;XM_006723316 AAH21552;AAK20029;AAL50047;ABM86136;ABW03468;ABW03776;EAW72170;EAW72171;EAW72172;NP_114103;NP_665813;NP_665814;Q9BXT2;XP_006723379 Hs.631560 1798376;1798994;1799526;1802540;1821264;1826504;1827886;1836230;1837454;1837604;1840656;1842650;1843096;2103418;2103420;2103422;2103424;2103426;2103428;2103430;2103432;2103434;2103436;2103438;2103440;2131215 ECD00024;ECD00342;ECD00615;ECD02156;ECD11712;ECD14366;ECD15066;ECD19276;ECD19894;ECD19969;ECD21518;ECD22532;ECD22756;WI-22592;stSG605702;stSG605703;stSG605704;stSG605705;stSG605706;stSG605707;stSG605708;stSG605710;stSG605712;stSG605713;stSG605715;stSG605716 OTTHUMP00000067375;OTTHUMP00000067376;neuronal voltage-gated calcium channel gamma-6 subunit;voltage-dependent calcium channel gamma-6 subunit APPROVED protein-coding ENSG00000130433 HGNC:13625 06061 606898 REVIEWED 731676 CACNG2 calcium channel, voltage-dependent, gamma subunit 2 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010] 22 22 22 q13.1 20762236 20901711 - 36956916 37098690 - 36560869 36702645 - 1580863;6480464;6907045;7240704;8699517;7240710;8554872 22334212 10221464;10591208;10643919;11140673;11170751;11805122;12359873;12477932;14505496;14702039;15001777;15461802;15489334;15567474;15758178;16434481;16637659;16793768;17483093;17652770;18304745;18311135;18408563;18571626;19156168;19543281;19805317;20219255;20688780;21832049;23166629;23602568 10369 Q9Y698 ABBA01055449;ABBA01055450;AF096322;AK123431;AL022313;AL031845;AL049749;AMYH02038324;AMYH02038325;BC069612;BC112297;BC112299;BE670632;BI919073;CH471095;CR456414;HG512270;KF511450;KF511451;NG_031861;NM_006078;Z70289 AAD22738;AAH69612;AAI12298;AAI12300;ADR82940;CAG30300;CAK54405;CAK54704;EAW60113;NP_006069;Q9Y698 Hs.146766 1340423;1694958;1733236;2140951;2152426;2184624;7183698;7187005 D22S1258;D22S426;D22S573;D22S619;D6S1611;G44389;RH45498 FLJ41437;MGC138502;MGC138504;MRD10;RP5-1119A7.17 OTTHUMP00000028790;TARP gamma-2;neuronal voltage-gated calcium channel gamma-2 subunit;stargazin;transmembrane AMPAR regulatory protein gamma-2;voltage-dependent calcium channel gamma-2 subunit APPROVED protein-coding HGNC:1406 04220 602911;614256 REVIEWED 735495 CACNG4 calcium channel, voltage-dependent, gamma subunit 4 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] 17 17 17 q24 61533692 61602193 + 64960980 65029518 + 66964864 67033402 + 1300374;1580863;6480464;6907045;8554872 10613843 11170751;11738816;12477932;14505496;14702039;15489334;17652770;18304745;19913121;20378664;20628086;22779921 27092 Q8TCR4;Q9UBN1 ABBA01029014;AC005544;AC005988;AF142622;AF142623;AF142624;AF142625;AF162692;AK055232;AK315149;AL526464;AL713655;AL831834;AMYH02033833;BC004504;BC032765;BC034532;BF508806;CH471099;NM_014405 AAF03090;AAF14538;AAH34532;ABM82741;ABM85926;BAG37597;CAD28464;EAW89020;EAW89021;NP_055220;Q9UBN1 Hs.514423 1678553;1707640;1795466;1854946;2144924;2180688 CACNG4_503;D20S801;G17986;RH93006;SHGC-17632;SHGC-81981 MGC11138;MGC24983 TARP gamma-4;neuronal voltage-gated calcium channel gamma-4 subunit;transmembrane AMPAR regulatory protein gamma-4;voltage-dependent calcium channel gamma-4 subunit APPROVED protein-coding ENSG00000075461 HGNC:1408 05911 606404 REVIEWED 732586 CACNG7 calcium channel, voltage-dependent, gamma subunit 7 The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51457105 51485939 + 54412704 54447195 + 53909450 53943941 + 6480464;6907045;8554872 11170751;11738816;11927536;12477932;15489334;17652770 59284 P62955 ABBA01068183;ABBA01068184;ABBA01068185;AC008440;AF288387;AF361353;AF458897;AL537399;AMYH02036436;AMYH02036437;AMYH02036438;AX101262;BC069332;BC093869;BC113503;CH471135;NM_031896;XM_005259124;XM_005259125 AAH69332;AAH93869;AAI13504;AAK20030;AAL50048;AAM00594;ADR83128;CAC36507;EAW72162;EAW72163;EAW72164;EAW72165;EAW72166;NP_114102;P62955;XP_005259181;XP_005259182 Hs.631597 1798642;1798716;1814262;1819996;1823936;1830794;1832628;1834304;1834866;1837028;1842200;2103348;2103350;2103352;2103354;2103356;2103358;2103360;2103362;2103364;2103366 ECD00160;ECD00198;ECD08160;ECD11069;ECD13063;ECD16533;ECD17455;ECD18300;ECD18583;ECD19678;ECD22303;stSG605644;stSG605645;stSG605647;stSG605648;stSG605649;stSG605656;stSG605657;stSG605660;stSG605662;stSG605663 OTTHUMP00000067298;OTTHUMP00000067299;OTTHUMP00000197715;TARP gamma-7;neuronal voltage-gated calcium channel gamma-7 subunit;transmembrane AMPAR regulatory protein gamma-7;voltage-dependent calcium channel gamma-7 subunit APPROVED protein-coding ENSG00000105605 HGNC:13626 06062 606899 REVIEWED 7241100 CACYBPP1 calcyclin binding protein pseudogene 1 10 10 10 80209386 80210749 - 86214445 86215808 - 84454689 84456052 - 100420043 ABBA01003755;AC074321;AMYH02023453;NG_025452 pseudo HGNC:45122 INFERRED 1344995 CACTIN cactin, spliceosome C complex subunit ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cellular response to interleukin-1; cellular response to lipopolysaccharide; cellular response to tumor necrosis factor; FOUND IN catalytic step 2 spliceosome; cytoplasm; extracellular vesicular exosome; INTERACTS WITH cobalt dichloride; cadmium dichloride (ortholog) 19 19 19 p13.3 3547464 3563656 - 3610626 3626813 - 3610628 3626815 - 6480464 10508479;11991638;12477932;14667819;15057824;15146197;15197164;15302935;15489334;17353931;19913121;20628086;20829348;21429463;23251661;24163370;24816145;8619474;9110174 58509 J3KMW8;K7EIU6;K7EMQ0;K7ENY9;K7EQE3;Q8WUQ7 ABBA01002835;AC005175;AC005542;AF052087;AF155102;AK299963;AMYH02035259;AW027691;AY917150;BC004262;BC019848;BF196424;CF272634;CN305928;CO248922;NM_001080543;NM_021231 AAC24305;AAC32903;AAD42868;AAH04262;AAH19848;AAI56485;AAI72549;AAX84551;BAG61789;NP_001074012;NP_067054;Q8WUQ7 Hs.128425 2132848;2132850 A005X06;G20563 C19orf29;FLJ17482;FLJ59622;NY-REN-24;fSAPc NY REN 24 antigen;NY-REN-24 antigen;cactin homolog;chromosome 19 open reading frame 29;functional spliceosome-associated protein c;renal carcinoma antigen NY-REN-24;uncharacterized protein C19orf29 APPROVED protein-coding ENSG00000105298 HGNC:29938 VALIDATED 7240978 CACYBPP2 calcyclin binding protein pseudogene 2 2 2 2 q32.1 178067854 178068535 - 184472166 184472847 - 183607438 183608119 - 22118674 644877 ABBA01062316;AC074182;AMYH02005379;NG_021541 1667408 SHGC-64074 pseudo HGNC:45123 INFERRED 1317719 CACUL1 CDK2-associated, cullin domain 1 ENCODES a protein that exhibits protein kinase binding; INVOLVED IN G1/S transition of mitotic cell cycle; positive regulation of cell proliferation; positive regulation of protein kinase activity; FOUND IN cullin-RING ubiquitin ligase complex (inferred); INTERACTS WITH torcetrapib; thioacetamide (ortholog) 10 10 10 q26.11 114171140 114245410 - 120433679 120514758 - 118674167 118755246 - 737633;6480464 12477932 14702039;15164054;15489334;19471022;19829063;21139048;22415352;22903020;22982681;23000965;23178685;23311997;23806693;24004834;24250222 143384 B4DVQ4;Q86Y37 ABBA01062929;ABBA01062930;ABBA01062931;AJ544771;AK026985;AK057742;AK097728;AK131008;AK301182;AL139407;AL157388;AMYH02023894;AMYH02023895;AY743663;BC038294;BG772719;BU623607;CH471066;NM_153810;XM_005269559;XR_246072 AAH38294;AAU89709;BAC05153;BAG62766;CAD67614;EAW49411;EAW49412;NP_722517;Q86Y37;XP_005269616 Hs.420024 1644307;1673949;1740015;1856142;2169309;2183695;5019741;5022322;5024039 A009N08;D10S1627;D11S2560;D16S325;G06209;G32677;RH69427;WI-16905;WI-17887 C10orf46;CAC1;FLJ40409;MGC33215 CDK2-associated and cullin domain-containing protein 1;Cdk-Associated Cullin1;OTTHUMP00000020585;OTTHUMP00000020586;chromosome 10 open reading frame 46;cullin;uncharacterized protein C10orf46 APPROVED protein-coding HGNC:23727 12576 VALIDATED 6481315 CADM2-AS1 CADM2 antisense RNA 1 3 3 p12.1 86041333 86077157 - 85992183 86028007 - 12477932 100874038 ABBA01031089;AC107024;AMYH02007196;BC032557;XR_245081;XR_249431;XR_251401 APPROVED ncrna ENSG00000239519 HGNC:41248 MODEL 8162731 CADM3-AS1 CADM3 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q23.2 132236020 132242433 - 159165775 159172212 - 159195985 159202422 - 8554872 19913121;20628086;22744181 100131825 ABBA01016620;AK124069;AL035403;AL050219;AMYH02002009;HG492827;NR_037870 BAC85765 Hs.701271 ncrna ENSG00000225670 HGNC:40812 VALIDATED 1313847 CADM2 cell adhesion molecule 2 This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 3 3 3 p12.1 85754715 86870332 + 85008133 86123579 + 84958982 86074429 + 6480464;8554872 12477932;14702039;16311015;19861958;20379614;20935630;21062931;21864505;22589738;22832960;23563607;23643812;24240726;8889548 253559 G3XHN4;Q8N3J6 AB646739;AB646740;AB646741;AB646742;AB646743;ABBA01031081;ABBA01031082;ABBA01031083;ABBA01031084;ABBA01031085;ABBA01031086;ABBA01031087;ABBA01031088;ABBA01031089;AC018361;AC023600;AC107024;AC107026;AC108700;AC117452;AC119726;AC119729;AC132660;AC134650;AF538973;AK090787;AK094943;AK095545;AK295885;AL833049;AL834270;AMYH02007183;AMYH02007184;AMYH02007185;AMYH02007186;AMYH02007187;AMYH02007188;AMYH02007189;AMYH02007190;AMYH02007191;AMYH02007192;AMYH02007193;AMYH02007194;AMYH02007195;AMYH02007196;AMYH02007197;BC040985;BC105999;BC112136;BC112138;BM674450;BX954585;CH471110;CQ893573;KF510850;NM_001167674;NM_001167675;NM_001256502;NM_001256503;NM_001256504;NM_001256505;NM_153184;XM_006713081;XM_006713082 AAI06000;AAI12137;AAI12139;AAN16368;BAG58681;BAK93302;BAK93303;BAK93304;BAK93305;BAK93306;CAD38945;CAH56314;CAH68708;EAW68874;EAW68875;NP_001161146;NP_001161147;NP_001243431;NP_001243432;NP_001243433;NP_001243434;NP_694854;Q8N3J6;XP_006713144;XP_006713145 Hs.164578 1337169;1339773;1342264;1659847;1660118;1673669;1679461;1682650;1688102;1693320;1694880;1705458;1707134;1715485;1720723;1720727;1733930;1740087;1749245;1754929;1789136;1849944;2125421;2127184;2130112;2131417;2151612;2154152;2155243;2164634;2175277;2176986;2180361;5092744 A005W32;A007K07;AFM161xg11;D3S1276;D3S1663;D3S2315;D3S2392;D3S2451;D3S2544;D3S3502;D3S4553;G16557;G32302;G42366;G44321;G59335;G59337;G65704;RH120985;RH12384;RH78551;RH78628;RH80056;RH99008;SHGC-110936;SHGC-141853;SHGC-77126;SHGC-77127;SHGC-81333;SHGC-83814;STS-H08139;UniSTS:73712;WI-18489;WI-21552 IGSF4D;MGC104534;MGC138341;MGC138343;NECL3;Necl-3;SynCAM 2;synCAM2 OTTHUMP00000213814;OTTHUMP00000213815;OTTHUMP00000213816;immunoglobulin superfamily member 4D;immunoglobulin superfamily, member 4D;nectin-like 3;nectin-like protein 3;synaptic cell adhesion molecule 2 APPROVED protein-coding ENSG00000175161 HGNC:29849 11046 609938 VALIDATED 1348167 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. [provided by RefSeq, Jul 2008] 2 2 2 p22-p21 27286585 27312981 + 27440258 27466660 + 27217390 27243792 + 1580863;2303530;2303540;2303532;5132586;5132591;5133412;5132587;6480464;6907045;8554872 13618893;1476792;15096496;2888462;2914957;3973436;6030068 11854437;11986331;12438317;12477932;12746293;14523024;14559996;15324660;15326225;15489334;15621215;15890648;16051665;16055720;16155188;16196087;16335966;16964243;17081983;17266347;18457437;18679823;18729074;18781797;18854154;19380743;19394292;19596686;1979741;19946888;20085233;20379614;20473970;20659789;21081666;21139048;21145461;21319273;21575865;21697133;21890473;21906983;21963094;21982950;21987572;22145905;22268729;22505724;22586326;22623428;22939629;23000965;23125841;23143245;23254330;23438482;23443559;23455922;23594158;23703321;23752268;24316846;24550385;24639526;24654937;24816145;25015289;25027693;2565865;2885743;4092695;8619816;9525610 790 F8VPD4;H7BZB3;H7C2E4;H7C3Z5;P27708 AB621827;ABBA01045199;AC013403;AC013413;AK226105;AMYH02003473;BC014178;BC065510;BM927624;BU541191;BU558264;CH471053;D78586;KF459621;M38561;NM_004341;XM_005264555;XM_005264556;XM_005264557;XM_005264558;XM_006712101 AAA51907;AAH14178;AAH65510;AAX93165;AAY24293;BAA11423;BAK64162;EAX00612;EAX00613;EAX00614;NP_004332;P27708;XP_005264612;XP_005264613;XP_005264614;XP_005264615;XP_006712164 Hs.377010 1712186;1792206;1793306;2181945;5024555;5121494 G54144;PMC139788P1;PMC207647P2;RH70745;SGC30858;WI-14618 CAD trifunctional protein;OTTHUMP00000122585;OTTHUMP00000201035;multifunctional protein CAD APPROVED protein-coding ENSG00000084774 HGNC:1424 06437 114010 REVIEWED 1312331 CADM4 cell adhesion molecule 4 INVOLVED IN cell adhesion (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (+)-catechin; tert-butyl hydroperoxide; trichostatin A 19 19 19 q13.31 40929016 40946485 - 44126519 44143991 - 43622367 43639839 - 6480464 11536053;12477932;16261159;16825666;19565570;20200953;21139048;21544807;21900206;23559354;23611113;23825401 199731 Q8NFZ8 ABBA01040863;AC005525;AF363368;AK313028;AMYH02036169;BC068457;BC113963;CH471126;NM_145296;XM_005258620 AAC32740;AAI13964;AAI40327;AAI41628;AAM60750;BAG35862;EAW57212;EAW57213;EAW57214;NP_660339;Q8NFZ8;XP_005258677 Hs.370984 1658758;2109427;2124171 D19S832;IGSF4C__6451;RH48989 IGSF4C;NECL4;Necl-4;TSLL2;synCAM4 TSLC1-like 2;TSLC1-like protein 2;immunoglobulin superfamily member 4C;immunoglobulin superfamily, member 4C;nectin-like 4;nectin-like protein 4 protein-coding ENSG00000105767 HGNC:30825 17141 609744 VALIDATED 1604175 CAGE1 cancer antigen 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; trichostatin A; thioacetamide (ortholog) 6 6 6 p24.3 8556649 8619686 - 7326887 7389976 - 7326654 7389709 - 6480464;8554872 12477932;12531476;14574404;14702039;15489334;16964403;17114284;17786288;24174534 285782 D6R9A7;D6RCC6;E7EUJ7;Q8TC20 ABBA01022040;ABBA01022041;AF414185;AK097760;AL139095;AMYH02013059;AMYH02013060;AMYH02013061;BC026188;BC026194;BC033545;CH471087;NM_001170692;NM_001170693;NM_205864 AAH26194;AAH33545;AAO47239;ABM83382;ABM86594;BAC05162;EAW55206;EAW55207;EAW55208;EAW55209;NP_001164163;NP_001164164;NP_995586;Q8TC20 Hs.721486 1663147;2145805 D8S1159;RH36530 CT3;CT95;CTAG3;FLJ40441;bA69L16.7 OTTHUMP00000015995;OTTHUMP00000015996;OTTHUMP00000221197;OTTHUMP00000221198;OTTHUMP00000221200;OTTHUMP00000221202;cancer-associated gene 1 protein;cancer/testis antigen 3;cancer/testis antigen 95;cancer/testis antigen gene 1 protein-coding ENSG00000164304 HGNC:21622 10511 608304 VALIDATED 6481314 CADM2-AS2 CADM2 antisense RNA 2 3 3 85849137 85877200 - 85799987 85828050 - 11329013;22832960 100874037 ABBA01031084;AC117452;AMYH02007191;BG200721;HG495830;NR_046752 Hs.570566 RP11-341J3.1 APPROVED ncrna ENSG00000241648 HGNC:41247 PREDICTED 1346732 CACYBP calcyclin binding protein The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q24-q25 148078240 148090832 + 174968571 174981163 + 174999435 175012027 + 2326117;2326146;6480464;6907045 16440310;18765951 11389839;11927578;12006993;12042313;12421809;12477932;12895292;14702039;15489334;16085652;16196087;17353931;17400182;18029348;18171983;18443365;18781797;18803400;19135240;19615732;19738201;19875381;20181957;20562859;20585948;20878073;21110948;21139048;21268134;21297076;21466614;21890473;21906983;21963094;21988832;22053931;22118674;22295074;22480271;22505724;22623428;22863883;22874833;22939629;22990118;23000965;23166591;23208506;23463283;23543800;24078263;24250222;24255178;25036637 27101 B2ZWH1;Q9HB71 ABBA01027873;AF057356;AF275803;AF314752;AK093425;AK294042;AK313278;AL035305;AMYH02002177;AW300675;AX058084;AY423723;BC005975;BC022352;BC067823;BC078151;BQ432793;CA951015;CH471067;KF510703;NG_029961;NM_001007214;NM_014412;XM_005245092;Z99127 AAC21458;AAG23817;AAG34170;AAH05975;AAH22352;AAH67823;AAH78151;AAS00486;BAG36086;BAG52713;BAG57394;CAA22910;CAC22475;EAW90982;EAW90983;NP_001007215;NP_055227;Q9HB71;XP_005245149 Hs.508524 1644145;1667408;1710524;2124321;2136931;2162904;2164939;5017568 CACYBP;D1S2592;RH64562;SHGC-31968;SHGC-64074;SHGC-75931;SHGC-75932;SHGC-86290 GIG5;MGC87971;PNAS-107;RP1-102G20.6;S100A6BP;SIP OTTHUMP00000032884;OTTHUMP00000032885;OTTHUMP00000201857;S100A6-binding protein;Siah-interacting protein (SIP);calcyclin-binding protein;growth-inhibiting gene 5 protein;hCacyBP APPROVED protein-coding ENSG00000116161 HGNC:30423 07316 606186 REVIEWED 1322220 CADM1 cell adhesion molecule 1 ENCODES a protein that exhibits receptor binding; PDZ domain binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN cell recognition; detection of stimulus; positive regulation of cytokine secretion; ASSOCIATED WITH Breast Neoplasms; Cervical Intraepithelial Neoplasia; Ovarian Neoplasms; FOUND IN extracellular vesicular exosome; plasma membrane; basolateral plasma membrane (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 11 11 11 q23.2 112198721 112530558 - 115039933 115375241 - 115173625 115504523 - 1580863;2289088;2289091;2289095;2289096;2289089;2289090;2296030;6480464;8554872 12079507;15589594;16532039;16814249;17009984;17260099;17428255 10610705;11279526;12050160;12112527;12202822;12234973;12432281;12477932;12716461;12759359;12826663;12920246;12925956;12942568;12973698;12975309;13679854;14559819;14633730;14639656;14970278;15184878;15231748;15471956;15535129;15741237;15781451;15811952;15905536;16083501;16108829;16205641;16303743;16311015;16394014;17018592;17130425;17300670;17326163;18084322;18332875;18471525;18498117;18559103;18684968;18726896;18922876;18957284;19115211;19371721;19561085;19643986;19653122;19783739;19835597;19854157;19913121;19995226;20190806;20215110;20340131;20375924;20379614;20570966;20628086;20677014;20709797;20838585;21045196;21067843;21081044;21131357;21139048;21190187;21271221;21329006;21389098;21436696;21526423;21643982;21880726;22173495;22207107;22237452;22289924;22392644;22429880;22438059;22528944;22547693;22706526;22851235;22863734;22926846;22940845;23028344;23047161;23063768;23136087;23142238;23176198;23251661;23301758;23310950;23330003;23456988;23503473;23504322;23530148;23541110;23620770;23812766;23871486;23907434;24092566;24445397;24465823;24483146;24722188 23705 A0A4Z1;F5H0H5;F5H125;F5H372;F5H8J9;H0YG94;Q9BY67;X5D7A8;X5D8W0;X5DQR8;X5DQS5 AB017563;AB094146;ABBA01039760;ABBA01039761;ABBA01039762;ABBA01039763;AF132811;AK075502;AK172730;AK315245;AL080181;AMYH02025606;AMYH02025607;AMYH02025608;AMYH02025609;AMYH02025610;AP000462;AP000465;AP003174;AP003179;AP005020;AX136299;AY309502;AY358334;BC035930;BC047021;BC125102;BC125103;BI915307;BM309987;BX641042;BX647110;CA447277;CA777709;CH471065;CR457157;CS019549;CS051335;EF444987;HC206622;HE586496;HE586497;HE586498;HE586499;HE586500;HE586501;HE586503;KC877463;KC877466;KC877467;KC877471;KF455524;KF455526;KF455527;KF510353;KF511123;KF511124;KF511125;KJ534791;KJ534792;KJ534793;KJ534794;KJ534795;KJ534796;KJ534797;NM_001098517;NM_001301043;NM_001301044;NM_001301045;NM_014333;XM_005271491;XM_005271492;XM_005271493;XM_005271494 AAF69029;AAH47021;AAI25103;AAI25104;AAQ81866;AAQ88700;ACA06003;ACA06004;AHW56431;AHW56432;AHW56433;AHW56434;AHW56435;AHW56436;AHW56437;BAA75822;BAC11657;BAC66178;CAC39791;CAE46024;CAG33438;CAI58842;CAI72162;CBI85480;CCD32610;CCD32611;CCD32612;CCD32613;CCD32614;CCD32615;CCD32617;EAW67256;EAW67257;EAW67258;EAW67259;EAW67260;NP_001091987;NP_001287972;NP_001287973;NP_001287974;NP_055148;Q9BY67;XP_005271548;XP_005271549;XP_005271550;XP_005271551 Hs.370510 1298102;1648013;1648700;1650814;1658206;1719075;1737731;1737739;1767897;1770956;1771335;1772266;1776499;1780256;1848851;1850449;1851350;1851976;2111824;2112322;2118026;2138486;2145896;2148007;2149180;2153786;2163949;2165191;2179931;2181289;2190899;5015961;5037552;5128209;7184936 2024;AFMA340WD1;C95578;C95582;C95583;C95588;C95596;C95603;C95606;C95619;C95631;C95632;C95641;C95642;D11S1077;D11S2038;D11S3323;D11S3337;D11S4502;D11S4636;D11S4693;D11S4897;D11S908;D15S1477;D8S2279;MARC_10475-10476:999705103:1;RH123254;RH47150;RH47303;RH65662;SHGC-152044;SHGC-154812;SHGC-31226;WI-20930 BL2;DKFZp686F1789;IGSF4;IGSF4A;MGC149785;MGC51880;NECL2;Necl-2;RA175;ST17;TSLC-1;TSLC1;sTSLC-1;sgIGSF;synCAM1 OTTHUMP00000238280;OTTHUMP00000238281;OTTHUMP00000238282;OTTHUMP00000238283;OTTHUMP00000238284;OTTHUMP00000238285;SYNCAM;TSLC1/Nectin-like 2/IGSF4;immunoglobulin superfamily member 4;immunoglobulin superfamily, member 4;immunoglobulin superfamily, member 4D variant 1;immunoglobulin superfamily, member 4D variant 2;nectin-like 2;nectin-like protein 2;spermatogenic immunoglobulin superfamily;synaptic cell adhesion molecule;truncated CADM1 protein;tumor suppressor in lung cancer 1 protein-coding ENSG00000182985 HGNC:5951 05746 605686 VALIDATED 1315991 CADM3 cell adhesion molecule 3 IGSF4B is a brain-specific protein related to the calcium-independent cell-cell adhesion molecules known as nectins (see PVRL3; MIM 607147) (Kakunaga et al., 2005 [PubMed 15741237]).[supplied by OMIM, Mar 2008] 1 1 1 q21.2-q22 132211622 132243171 + 159141377 159172932 + 159171587 159203142 + 6480464;8554872 11536053;11544254;12477932;12826663;12975309;14659875;14702039;15340161;15741237;15893517;16467305;16710414;17903293;18420026;18502984;18686605;19062177;19165527;19565570;20078932;20237496;20598232;21139048;21325282;22291609;22360420;24112238 57863 Q8N126 ABBA01016620;AF062733;AF363367;AF529206;AK001560;AK289541;AK308915;AL035403;AMYH02002009;AY046418;AY358332;AY663416;AY663417;AY663418;AY663419;AY663420;AY663421;AY663422;AY663423;AY663424;AY663425;AY663426;AY663427;AY663428;AY663429;AY663430;AY663431;AY663432;AY663433;BC033819;CH471121;CS019555;CS019557;DQ181553;DQ181554;DQ181555;DQ181556;DQ181557;DQ181558;DQ181559;DQ181560;DQ181561;DQ181562;DQ181563;DQ181564;DQ181565;DQ181566;DQ181567;HC206628;HC206630;NM_001127173;NM_021189 AAD17540;AAH33819;AAL02143;AAM60749;AAN75603;AAQ88698;AAU47274;AAU47277;AAU47280;AAU47283;AAU47286;AAU47289;AAU47292;AAU47295;AAU47298;AAU47301;AAU47304;AAU47307;AAU47310;AAU47313;AAU47316;AAU47319;AAU47322;AAU47325;ABA10402;ABA10405;ABA10408;ABA10411;ABA10414;ABA10417;ABA10420;ABA10423;ABA10426;ABA10429;ABA10432;ABA10435;ABA10438;ABA10441;ABA10444;ABM81774;ABM84928;BAA91756;BAF82230;CAI58844;CAI58845;CBI85482;CBI85483;EAW52792;EAW52793;EAW52794;NP_001120645;NP_067012;Q8N126 Hs.365689 1340905;1674852;1846882;2117930;2141228;2164682 A001Y21;D1S2635;D1S3501;RH11558;RH12336;STS-T65055 BIgR;FLJ10698;IGSF4B;NECL1;Necl-1;TSLL1;synCAM3 OTTHUMP00000035289;OTTHUMP00000035290;OTTHUMP00000035291;TSLC1-like 1;TSLC1-like protein 1;brain immunoglobulin receptor;dendritic cell nectin-like protein 1 short isoform;immunoglobulin superfamily member 4B;immunoglobulin superfamily, member 4B;nectin-like 1;nectin-like protein 1;synaptic cell adhesion molecule 3 APPROVED protein-coding ENSG00000162706 HGNC:17601 13733 609743 VALIDATED 1342691 CADPS2 Ca++-dependent secretion activator 2 This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 7 7 7 q31.3 116762799 117331572 - 121958478 122526813 - 122318424 122886759 - 6480464;8554872 10997877;12421765;12477932;12659812;14530279;14702039;14715936;15489334;15857609;16344560;17380209;19008227;19058789;19690564;20171287;20379614;21626674;22001167;24324551;24337577;24722188 93664 B7ZM57;C9IYE1;F8W8P5;H0Y8B5;H7BYR4;Q86UW7;X5D7B2;X5D8X0;X5DNG0 AB046811;ABBA01057742;ABBA01057743;ABBA01057744;ABBA01057745;ABBA01057746;ABBA01057747;ABBA01057748;AC004594;AC004838;AC004986;AC006009;AC015983;AC091438;AF401638;AK000768;AK025672;AK054853;AK126518;AL833058;AMYH02016672;AMYH02016673;AMYH02016674;AMYH02016675;AMYH02016676;AMYH02016677;AY264289;BC054339;BC136601;BC144278;BC144279;BX110721;CH236947;CH471070;DA118516;DA248542;DA323097;KF458579;KF458587;KJ534798;KJ534799;KJ534800;KJ534801;KJ534802;KJ534803;KJ534804;KJ534805;KJ535060;NG_016215;NM_001009571;NM_001167940;NM_017954;XM_005250695;XM_005250696;XM_005250697;XM_005250698;XM_005250699;XM_005250700;XM_005250701;XM_005250702;XM_005250703;XM_005250704;XM_005250705;XM_005250706;XM_005250707;XM_005250708 AAH54339;AAI36602;AAI44279;AAI44280;AAN38707;AAP22132;AHW56438;AHW56439;AHW56440;AHW56441;AHW56442;AHW56443;AHW56444;AHW56445;AHW56699;BAA91372;BAB13417;BAB15210;BAG51434;BAG54341;CAH56288;EAL24339;EAW83571;EAW83572;EAW83573;EAW83574;EAW83575;EAW83576;NP_001009571;NP_001161412;NP_060424;Q86UW7;XP_005250752;XP_005250753;XP_005250754;XP_005250755;XP_005250756;XP_005250757;XP_005250758;XP_005250759;XP_005250760;XP_005250761;XP_005250762;XP_005250763;XP_005250764;XP_005250765 Hs.649459 1338770;1341619;1646327;1651971;1664427;1706950;1710048;1710316;1714075;1721995;1724705;1752085;1769210;1771513;1774409;1786406;1788796;1796696;1850332;1851344;1852164;2113710;2116452;2126505;2132732;2134201;2134661;2142875;2147856;2158792;2165472;2168107;2169503;2180571;2184040;2187721;2187723;2187725;2189277;2189279;2189281;2189283;2189285;2189287;2189289;2189291;2189293;2189295;2189297;2189299;2189301;2189303;2189305;2189307;2189309;2189311;2189313;2189315;2189317;2189319;2189321;2189323;2189505;7186670 AB070023;D7S1550;D7S1906;D7S1960;D7S1982;D7S2177;D7S2219;D7S2486;D7S2529;D7S3210;D7S3211;D7S3213;D7S3214;D7S3215;D7S3216;D7S3217;D7S3218;D7S3219;D7S3220;D7S3221;D7S3222;D7S3223;D7S3224;D7S3225;D7S3226;D7S3227;D7S3228;D7S3229;D7S3230;D7S3231;D7S3232;D7S3233;D7S3234;D7S3235;D7S3236;D7S3237;D7S3238;D7S711;D7S731;G59883;GDB:1234292;GDB:1317866;GDB:1317954;GDB:1318270;GDB:1318464;NIB2049;RH119642;RH122556;RH137681;RH46936;RH48021;RH48144;RH65176;RNF133_1733r1;SGC38250;SHGC-106021;SHGC-171982;SHGC-32546;SHGC-80972;SHGC-82300;SHGC-82403;STS-AA026969;WI-14238 CAPS-2;FLJ40851;KIAA1591 Ca2+-dependent activator protein for secretion 2;OTTHUMP00000211454;OTTHUMP00000211455;OTTHUMP00000213045;calcium-dependent activator protein for secretion 2;calcium-dependent secretion activator 2 APPROVED protein-coding ENSG00000081803 HGNC:16018 12996 609978 REVIEWED 6480342 CAHM colon adenocarcinoma hypermethylated (non-protein coding) 6 6 163834097 163834982 - 163413065 163413950 - 24799664;8889548 100526820 ABBA01015111;AL356119;AMYH02014931;BG168587;BQ771676;BX381206;CA945055;NG_029604;NR_037593 Hs.644159 LINC00468 ncrna ENSG00000270419 HGNC:42860 615930 VALIDATED 1344966 CADPS Ca++-dependent secretion activator This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008] 3 3 3 p14.2 62401123 62879063 - 62384021 62861064 - 62398346 62875389 - 1299540;1580863;6480464;8554872 1516133 10574461;12168954;12421765;12477932;12659812;1429734;14530279;14702039;15489334;15857609;16169070;17984325;19913121;20379614;20628086;21601610;21697133;21798848;22566634;22747683;23382691;23801330;23934736;9289490;9525942;9697858 8618 F1T0E5;H0YFP0;H7C4K9;H7C4P2;H7C4T6;H7C538;H7C5J0;Q9ULU8 AB032947;AB593079;ABBA01024327;ABBA01024328;ABBA01024329;AC012519;AC092039;AC104161;AC124860;AF458662;AK000873;AK127506;AL833895;AMYH02006931;AMYH02006932;AMYH02006933;AMYH02006934;AMYH02006935;AMYH02006936;AMYH02006937;AMYH02006938;AMYH02006939;AMYH02006940;BC015754;BC029460;BC035100;BC072684;BC131731;BX647166;CH471055;NM_003716;NM_183393;NM_183394;R54020;U36448;XM_006713362;XM_006713363;XM_006713364;XM_006713365;XM_006713366;XM_006713367;XM_006713368;XM_006713369;XM_006713370;XM_006713371;XM_006713372;XM_006713373;XM_006713374;XM_006713375;XM_006713376;XM_006713377;XM_006713378 AAA79701;AAH15754;AAH29460;AAH72684;AAI31732;AAM61861;BAA86435;BAJ84019;CAD38751;EAW65405;EAW65406;EAW65407;EAW65408;EAW65409;EAW65410;EAW65411;NP_003707;NP_899630;NP_899631;Q9ULU8;XP_006713425;XP_006713426;XP_006713427;XP_006713428;XP_006713429;XP_006713430;XP_006713431;XP_006713432;XP_006713433;XP_006713434;XP_006713435;XP_006713436;XP_006713437;XP_006713438;XP_006713439;XP_006713440;XP_006713441 Hs.654933 1337419;1337606;1644042;1647282;1657287;1657876;1671482;1677466;1708592;1708800;1713229;1713511;1714245;1715409;1718699;1722711;1724479;1735284;1740143;1751091;1756377;1759443;1760261;1767833;1851309;1855738;2112746;2113736;2116208;2117026;2120244;2126251;2128538;2134199;2151060;2160057;2164161;2164163;2171591;2172893;2184634;2186021;5094776 A002A38;AB049865;AGAT128;CHLC.GATA61E08;D3S1312;D3S2865E;D3S2931E;D3S3068;D3S3119;D3S3395;D3S3506;D3S3566;D3S3913;D3S4010;D3S4440;G17282;G19863;G60440;RH119901;RH120240;RH120537;RH120604;RH122405;RH123040;RH12341;RH47457;RH78270;RH91169;SHGC-104973;SHGC-132569;SHGC-143347;SHGC-150757;SHGC-31932;SHGC-36112;SHGC-77045;SHGC-77057;SHGC-77062;SHGC-77085;SHGC-81061;SHGC-85085;STS-T59032;WI-12448;WI-20079 CADPS1;CAPS;CAPS-1;CAPS1;KIAA1121 Ca2+-dependent activator protein for secretion;Ca2+-dependent secretion activator;Ca2+-regulated cytoskeletal protein;OTTHUMP00000213223;OTTHUMP00000213348;OTTHUMP00000213351;calcium-dependent activator protein for secretion 1;calcium-dependent secretion activator 1 APPROVED protein-coding ENSG00000163618 HGNC:1426 05236 604667 REVIEWED 732083 CALB1 calbindin 1, 28kDa Calbindin is a calcium-binding protein belonging to the troponin C superfamily. It was originally described as a 27-kD protein induced by vitamin D in the duodenum of the chick. In the brain, its synthesis is independent of vitamin-D-derived hormones. Calbindin contains 4 active calcium-binding domains, and 2 modified domains that presumably have lost their calcium-binding capacity. The neurons in brains of patients with Huntington disease are calbindin-depleted. [provided by RefSeq, Jul 2008] 8 8 8 q21.3 87265760 87290030 - 91070836 91095107 - 90058610 90082879 - 704404;633843;704383;1580863;6480464;7204685;8554872 12204357;12372637;20943758 10841767;11994015;12176979;12477932;12520521;12606474;12684061;14702039;1537319;15489334;15641794;15741335;16421571;16763551;16928804;1713126;17156698;17257825;17442486;18259068;18359862;18568448;18587625;19056867;1906795;19674066;20054781;20098747;20214988;20452033;21364983;21565611;22272358;22483853;23715974;2565876;2897519;3691519;7943215;8739042;9373717 793 E5RG14;E5RIZ8;P05937 ABBA01037403;AC004612;AC123779;AF068862;AF070717;AK054881;AK295585;AK312491;AK315959;AMYH02018395;BC006478;BC020864;BX537530;CH471060;M19878;M19879;NM_004929;S46006;X06661 AAA98991;AAA98992;AAB19408;AAC14672;AAC25277;AAC62230;AAH06478;AAH20864;BAG35393;BAG51438;BAH12116;BAH14330;CAA29860;EAW91665;EAW91666;NP_004920;P05937 Hs.65425 1653399;1657965;2119893;2185604;2218332 CALB1_4495;D8S1947;SGC30430;SHGC-30996;WI-16365 CALB;D-28K OTTHUMP00000166027;OTTHUMP00000225441;RTVL-H protein;calbindin;calbindin 1;calbindin 1, (28kD);calbindin D28;vitamin D-dependent calcium-binding protein, avian-type APPROVED protein-coding ENSG00000104327 HGNC:1434 00229 114050 REVIEWED 731363 CALB2 calbindin 2 This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 16 16 16 q22.2 55708128 55740202 + 71392616 71424341 + 71358713 71390438 + 1580863;2315881;6480464;7204685 18604736;20943758 10942575;11642722;12051635;12064772;12359331;12477932;12542677;15285029;15489334;15950053;16270201;16289944;16344560;16415795;17535091;18029348;18091323;18189312;18214032;18223328;18269580;18297277;18801393;18992917;1906795;19435792;19450707;19550372;19648883;19854615;19998412;2001709;20138841;20175889;20509881;20576695;2071140;21139048;21629658;22011651;22020045;22272358;22343111;22360420;22555304;22796338;22891683;23011824;23033479;23075894;23595591;23701779;23732647;23899067;23995573;24012099;24262018;24294384;24322014;25119007;2612220;2618861;7607211;7643192;8125298;8889548;9370058;9452956 794 A6NER6;H3BMN5;H3BN14;P22676 ABBA01016777;ABBA01032109;ABBA01032110;AC106736;AK222495;AK222648;AK291096;AMYH02032311;AMYH02032312;BC015484;BM664507;BX116479;CH471166;DA060805;KF456204;NM_001740;NM_007088;NR_027910;X56667;X56668 AAH15484;BAD96215;BAD96368;BAF83785;CAA39991;CAA39992;EAW59240;EAW59241;EAW59242;EAW59243;EAW59244;NP_001731;NP_009019;P22676 Hs.106857 1341076;1741349;1763963;2134515 D16S681;GDB:180914;SHGC-11961;SHGC-147616 CAB29;CAL2;CR 29 kDa calbindin;OTTHUMP00000174922;calbindin 2, (29kD, calretinin);calbindin 2, 29kDa (calretinin);calbindin D29K;calretinin APPROVED protein-coding ENSG00000172137 HGNC:1435 00230 114051 REVIEWED 730992 CALCA calcitonin-related polypeptide alpha This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator and as an antimicrobial peptide while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2014] 11 11 11 p15.2 15115335 15120952 - 14988214 14993879 - 14966668 14972333 - 1580863;734677;2314032;2314035;2314033;2314034;5684343;5684013;5684010;5684360;5684019;5684020;6480464;5684017;5684345;7204486;7204479;7204487;7205498;8657122 15286264;15583078;15928032;17151309;17934713;19152794;19194162;19563774;19684430;19816194;19900492;20959432;21181115;21195698;21718723;21958434;21964254;2502220 10642343;10754330;10822112;10882736;11014233;11185743;11317366;11337490;11389975;11803621;12036966;12063634;12198603;12213903;12220731;12231407;12234182;12359227;12369791;12446725;12477932;12517415;12529288;12540523;12590613;12594852;12728303;12871824;12917321;1318039;1326102;14586070;14627864;14654229;14668209;14684361;14722252;14745805;14759258;14984255;15155765;15168342;15203218;15248232;15300632;15319367;15449935;15489334;15621724;15696922;15761041;15761654;15784626;15880427;16014619;16236878;16386179;16439457;16511394;16531504;16574742;16597919;16611736;16710309;16712930;16720289;16840549;16890288;16904178;16996466;17026622;17038199;17087112;17101796;17123735;17149558;17207965;17241109;17251226;17267696;17381353;17441790;17481780;17485015;17535749;17552872;17558349;1761559;17669797;17676478;17689535;17710246;17785463;17941085;17983652;18000879;18039931;18057382;18167349;18180663;18197882;18211417;18240029;18295515;18384419;18403669;18525431;18556380;18574663;18577758;18603306;18626012;18779512;18784182;18941191;18953261;18959118;19078972;19086053;19236383;19282810;19299090;19440016;19447044;19453261;19484659;19485922;19541012;19541585;19543500;19589278;19623026;19685709;19715516;19736013;19797133;19829249;1988044;19909213;19913121;20010500;2001366;20046084;20131075;20143189;20146868;20146986;20173430;20214413;20233513;20375903;2039456;20441469;20530033;20595156;20628086;20654671;20654748;20699253;20803037;20805714;20832068;20890583;20929576;20930646;21078153;21083886;21211657;21216873;21219690;21289592;21352816;21391919;21423046;21457239;21541027;21550738;21658317;21703310;21778801;21843355;21937947;21996233;22019953;22074408;22079264;22149667;22200484;22207498;22208649;22233274;22371911;22399852;22429353;22550867;22561677;22573121;22607374;22631226;22652631;22677443;22685586;22819536;22898635;22960196;22961239;23010746;23086568;23118979;23123709;23128457;23214280;23237777;23313519;23327335;23356193;23436675;23461295;23490535;23510625;23519568;23552643;23575548;23580106;23682219;23682226;23702052;23708553;23722301;23731651;23799041;23813138;23835994;23968948;23975872;24012914;24065474;24081951;2408883;24125506;24135723;24140435;24315546;24363525;24379064;25055485;2571128;2578663;2983422;3001670;3034287;3259294;3266556;3485540;3492492;3549095;3872459;5760861;6132180;6148938;6327497;6546550;6609312;6610687;8078488;8405394;8468047;8626685;8940110;9620797;9685362 796 P01258;P06881 A15601;ABBA01061097;AC090835;AMYH02024361;BC069684;BC069704;BC069760;BC069778;BC093753;BC101599;BC143562;BF447272;BF942024;BX094781;CB048118;CD612754;CH471064;DQ080435;FB571423;FB571425;FB571427;FO082042;K03512;K03513;M12666;M12667;M26094;M26095;M28637;M64486;NG_015960;NM_001033952;NM_001033953;NM_001741;NR_125898;X00356;X02330;X03662;X15943;XM_005253134 AAA35501;AAA51912;AAA51913;AAA51914;AAA52011;AAA52012;AAA52124;AAA58403;AAH69684;AAH69704;AAH69760;AAH69778;AAH93753;AAI01600;AAI43563;AAY68212;ADQ32890;CAA01243;CAA25103;CAA26189;CAA26190;CAA27299;CAA34070;CAR95129;CAR95130;CAR95131;EAW68468;EAW68469;NP_001029124;NP_001029125;NP_001732;P01258;P06881;XP_005253191 Hs.37058 1694478;1742501;2127998;2128812;2217100;5111567 CALCA_3026;D11S4427;G06648;G42969;GDB:197828;STS-X15943 CALC1;CGRP;CGRP-I;CGRP1;CT;KC;MGC126648 OTTHUMP00000216318;OTTHUMP00000216319;OTTHUMP00000216320;OTTHUMP00000216321;alpha-type CGRP;calcitonin;calcitonin 1;calcitonin gene-related peptide 1;calcitonin gene-related peptide I;calcitonin/calcitonin-related polypeptide, alpha;calcitonin; calcitonin gene-related peptide 1;katacalcin APPROVED protein-coding ENSG00000110680 HGNC:1437 00238 114130 REVIEWED 1601886 CALCOCO2 calcium binding and coiled-coil domain 2 This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 17 17 17 q21.32 43362488 43396512 + 46908350 46942607 + 48830988 48865245 + 6480464 12033769;12477932;12869526;14747555;15231748;16189514;16969126;17207965;17635994;18029348;18330356;18985028;19285159;19820708;19946888;21079414;21139048;21552525;21565611;21646350;21890473;21903422;21906983;21963094;21964925;21988832;22053931;22505724;23000965;23022382;23143396;23209807;23386746;23503661;23511477;23624108;24457600;24722188;24816145;7540613;8125298;9230084 10241 D6RBF9;D6RBI4;D6REB0;D6RF70;D6RJE7;H0Y9G3;H0YBP4;I3L493;I3L4E1;Q13137 ABBA01041177;ABBA01041178;ABBA01041179;ABBA01041180;AC068531;AF085965;AK222666;AK223227;AK293137;AK293329;AK298177;AK303313;AK304024;AK314796;AL042638;AL046722;AMYH02033546;AMYH02033547;AMYH02033548;AMYH02033549;BC004130;BC015893;BE315542;BG773301;BU620013;CH471109;CR456763;NM_001261390;NM_001261391;NM_001261393;NM_001261395;NM_005831;U22897 AAA75297;AAH04130;AAH15893;ADQ32739;ADZ15727;BAD96386;BAD96947;BAG37327;BAG56685;BAG56845;BAG60448;BAG64382;BAG64939;CAG33044;EAW94707;EAW94708;NP_001248319;NP_001248320;NP_001248322;NP_001248324;NP_005822;Q13137 Hs.514920 1645852;1649587;1769192;1769385;2148569;2152890;5015961 D15S1477;RH48296;SGC32799;SGC34389;SHGC-33986;STS-U22897;WI-11586 MGC17318;NDP52 OTTHUMP00000218344;OTTHUMP00000218345;OTTHUMP00000218346;OTTHUMP00000218347;OTTHUMP00000218348;OTTHUMP00000218349;OTTHUMP00000218351;antigen nuclear dot 52 kDa protein;calcium-binding and coiled-coil domain-containing protein 2;nuclear domain 10 protein 52;nuclear domain 10 protein NDP52;nuclear dot protein 52 APPROVED protein-coding ENSG00000136436 HGNC:29912 06846 604587 REVIEWED 1351311 CALCP calcitonin pseudogene 11 11 11 p15.1 15056164 15056664 + 14929045 14929545 + 14907499 14907999 + 2898385;8468047 798 ABBA01061099;AC090835;AMYH02024361;NG_001088;X07964;X07965 2139647 CALC-P CALC3 pseudo HGNC:1439 INFERRED 1350431 CALCB calcitonin-related polypeptide beta ENCODES a protein that exhibits hormone activity (inferred); neuropeptide hormone activity (inferred); INVOLVED IN cellular calcium ion homeostasis (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH arsenite(3-); capsaicin; cisplatin 11 11 11 p15.2-p15.1 15222390 15227421 + 15095143 15103888 + 15073597 15082342 + 1580863;6480464;8554872 11803621;12036966;12477932;1318039;14702039;15489334;15761041;18240029;18577758;19086053;19192276;21641113;2322288;2985435;3492393;3492492;3493259;6091915;8468047 797 E7ESF5;P10092 ABBA01061097;AC090744;AI937230;AK054728;AK291188;AMYH02024361;BC092468;BI668461;CH471064;M28640;M28641;NM_000728;X02404;X04855;X04861;XM_005253135 AAH92468;BAF83877;CAA26249;CAC05295;EAW68466;EAW68467;NP_000719;P10092;XP_005253192 Hs.534305 1742567;1854927 D11S4626;GDB:197895 CALC2;CGRP-II;CGRP2;FLJ30166 OTTHUMP00000227061;OTTHUMP00000231700;beta-CGRP;beta-type CGRP;calcitonin 2;calcitonin gene-related peptide 2;calcitonin gene-related peptide II;calcitonin-related polypeptide, beta protein-coding ENSG00000175868 HGNC:1438 11742 114160 VALIDATED 731272 CALCR calcitonin receptor This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 7 7 7 q21.3 87758299 87908414 - 93053799 93204042 - 93424487 93574730 - 704404;1580863;6480464;7240710;8554872 10385705;10570950;10865224;10882736;11136533;11250927;11298188;11353946;11464063;11560994;11858573;12016463;12036966;12147682;12375338;12383251;12397072;12477932;12517415;12531889;12565884;12690205;12771454;12821648;12853948;12905735;1331173;14583624;14614653;14722252;15086532;15155765;15279076;15489334;15490304;15563840;15670850;15856322;15860547;15929987;15966503;16280328;16363366;16412323;16713399;17487556;17709929;17714780;18240029;18622089;18676680;18923429;19170196;19255718;19445988;19447889;19453261;19625176;19692168;19903822;19913121;19946674;20424473;20654748;20869948;20961463;21033393;21462477;22335784;23137636;23202124;23820954;4961748;7588285;7619207;7720653;7733946;7769107;7789182;7961748;8078488;8143880;9571205;9694898;9817931 799 A4D1G6;P30988 AB022177;AB022178;ABBA01045790;ABBA01045791;AC003078;AC005024;AJ831406;AJ831407;AK313996;AMYH02016279;AMYH02016280;AMYH02016281;AY430048;BC069611;BC075028;CH236949;CH471091;FN994993;FN994994;FN994995;FN994996;L00587;NG_013005;NM_001164737;NM_001164738;NM_001742;S77876;U26553;U26554;X69920;X82466 AAA35640;AAB83945;AAC50300;AAC50301;AAD14268;AAH69611;AAH75028;AAR06949;BAA86928;BAA86929;BAG36708;CAA49541;CAA57849;CAH40796;CAH40797;CBN80565;CBN80566;CBN80567;CBN80568;EAL24142;EAW76813;EAW76814;NP_001158209;NP_001158210;NP_001733;P30988 Hs.489127 1721791;1786260;1857176;2110295;2146322;2169611;2182509 CALCR;CALCR_3944;D7S2736;G59766;GDB:1317880;GDB:1317942;SHGC-144374 CRT;CT-R;CTR;CTR1 OTTHUMP00000162535;OTTHUMP00000208683;OTTHUMP00000208686 1643401 BMD1_H APPROVED protein-coding ENSG00000004948 HGNC:1440 00239 114131;166710 REVIEWED 1317957 CALHM2 calcium homeostasis modulator 2 INVOLVED IN ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; elemental selenium 10 10 10 q24.33 98946475 98952094 - 105206543 105212162 - 103446786 103452650 - 1580863;6480464;8554872 12477932;14702039;15164054;15489334;16344560;16385451;18585350;20164573;23974872;8619474;9110174 51063 Q9HA72 ABBA01063099;ABBA01063100;AF131810;AK022195;AL139339;AMYH02023724;AX878938;BC000039;CA432041;CH471066;DB109582;NM_015916;NR_024552;NR_046344;XM_006717877;XM_006717878;XM_006717879;XM_006717880;XM_006717881;XM_006717882;XM_006717883;XM_006717884 AAD20050;AAH00039;BAB13983;CAE90307;EAW49633;EAW49634;EAW49635;EAW49636;EAW49637;EAW49638;NP_057000;Q9HA72;XP_006717940;XP_006717941;XP_006717942;XP_006717943;XP_006717944;XP_006717945;XP_006717946;XP_006717947 Hs.241545 1661779;1681967;1771680;1848742;2168329 D10S1325E;D10S2276;NIB223;RH11327;RH92378 FAM26B OTTHUMP00000020411;OTTHUMP00000020412;calcium homeostasis modulator protein 2;family with sequence similarity 26, member B protein-coding ENSG00000138172 HGNC:23493 13301 612235 VALIDATED 731717 CALCOCO1 calcium binding and coiled-coil domain 1 ENCODES a protein that exhibits armadillo repeat domain binding; beta-catenin binding; ligand-dependent nuclear receptor transcription coactivator activity; INVOLVED IN positive regulation of transcription, DNA-templated; intracellular steroid hormone receptor signaling pathway (ortholog); signal transduction (ortholog); PARTICIPATES IN estrogen signaling pathway; FOUND IN cytoplasm; intracellular membrane-bounded organelle; nucleus; INTERACTS WITH 17beta-estradiol; aflatoxin B1; dasatinib (anhydrous) 12 12 12 q13.13 53754817 53771222 - 54104902 54121307 - 53711118 53727523 - 5128512;6480464 16394250 10819331;11076863;11230166;11256614;12477932;12601173;12975309;14702039;15489336;15522220;15851553;16169070;16189514;16344550;16344560;16381901;16713569;16717280;16931570;18029348;18854154;19165232;19183483;19953087;20211142;20360068;21832049;21988832;24816145;8125298 57658 F8VPN1;F8VQE3;F8VRQ9;F8VUB3;F8VWP8;F8VXS2;F8VZI3;F8W0X2;H3BRW8;Q9P1Z2 AB040969;ABBA01008358;ABBA01008359;AC076968;AF370415;AK027881;AK092788;AK122773;AK222646;AK294424;AK296497;AK309199;AK315578;AL136895;AMYH02026528;AY211909;AY358397;AY563137;BC003177;BX538208;CD723746;CH471054;CR533567;DB060684;NM_001143682;NM_020898;NR_026554;XM_006719523 AAH03177;AAO65163;AAQ15251;AAQ88763;AAT68474;BAA96060;BAB55428;BAG52609;BAG53720;BAG57671;BAG59131;CAB66829;CAD98068;CAG38598;CAL38131;EAW96727;EAW96728;EAW96729;EAW96730;EAW96731;EAW96732;EAW96733;NP_001137154;NP_065949;Q9P1Z2;XP_006719586 Hs.156667 1687219;2142302;2143136;5021680 RH8151;STS-T71651;WI-11261;ksks136 KIAA1536;PP13275 Cocoa;OTTHUMP00000242802;OTTHUMP00000242803;OTTHUMP00000242804;OTTHUMP00000242924;OTTHUMP00000242925;calcium-binding and coiled-coil domain-containing protein 1;calphoglin;coiled-coil coactivator protein;coiled-coil leucine zipper coactivator 1;inorganic pyrophosphatase activator;sarcoma antigen NY-SAR-3 protein-coding ENSG00000012822 HGNC:29306 13868 VALIDATED 1347189 CALHM3 calcium homeostasis modulator 3 INVOLVED IN ion transport (inferred); FOUND IN integral component of membrane (inferred) 10 10 10 q24.33 98972496 98978932 - 105232561 105238997 - 103472804 103479240 - 12477932;15164054;15489334;16385451;18585350;20164573;23974872 119395 Q86XJ0 ABBA01063099;AL139339;AMYH02023724;BC039499;BC043367;NM_001129742 AAH39499;AAH43367;ADR82711;NP_001123214;Q86XJ0 Hs.364624 FAM26A;bA225H22.7 OTTHUMP00000020410;calcium homeostasis modulator protein 3;family with sequence similarity 26, member A protein-coding ENSG00000183128 HGNC:23458 13300 VALIDATED 1603161 CALHM1 calcium homeostasis modulator 1 This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010] 10 10 10 q24.33 98953076 98958583 - 105213144 105218648 - 103453387 103458891 - 6480464;8554872 12477932;15164054;15489334;18585350;18667147;19038093;19070563;19191331;19191332;19472444;19545933;19655363;19944073;20005921;20061624;20164573;20164592;20164602;20534741;20574532;20592574;20634593;20847397;21378601;21439911;21574960;21629967;22874670;23300080;23345406;23467090;23884934;23974872;24069280 255022 Q8IU99 ABBA01063099;AL139339;AMYH02023724;BC036193;BC036208;CH471066;NG_016855;NM_001001412 AAH36193;AAH36208;ADZ15984;EAW49632;NP_001001412;Q8IU99 Hs.680365 1782028 SHGC-149649 FAM26C;MGC39514;MGC39617 OTTHUMP00000020413;calcium homeostasis modulator protein 1;family with sequence similarity 26, member C APPROVED protein-coding ENSG00000185933 HGNC:23494 16879 612234 REVIEWED 733108 CALCRL calcitonin receptor-like ENCODES a protein that exhibits adrenomedullin receptor activity; protein transporter activity; INVOLVED IN angiogenesis; calcium ion transport; cAMP biosynthetic process; FOUND IN endoplasmic reticulum; endosome; lysosome; INTERACTS WITH 1-chloro-2,4-dinitrobenzene; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; bisphenol A 2 2 2 q32.1 181804216 181909138 - 188206690 188313021 - 187341963 187448294 - 1580863;6480464 10217420;10767413;10772950;10882736;10903324;11387328;11389975;11420389;11535606;11693189;11814625;11921352;11937264;11973435;12036966;12084528;12093471;12128288;12213903;12234182;12419522;12490608;12538603;12574158;12630808;12684503;12684703;12824306;14668209;14722252;15245870;15300632;15340161;15613468;15641806;15797661;16293613;16344560;16410241;16495482;16622024;17067815;17310067;17503773;17675298;17785463;18039931;18198792;18240029;19210874;19394311;19581316;19598235;19898635;19903822;19913063;20074556;20379614;20424473;20946927;20954838;21703310;22102369;22142144;22208649;22484227;22933837;23969937;24047872;24169318;24199627;2826160;3001670;7818539;8626685;9620797;9876047 10203 B8ZZJ4;D3DPG9;E7EN01;Q16602 AA436933;AA961493;ABBA01062350;AC007319;AC074020;AK291630;AK292998;AL602685;AMYH02005412;AY389506;BQ002778;CB270158;CH471058;DA097876;DA215003;DA217003;DA883991;DQ280491;KF456755;L76380;NM_001271751;NM_005795;U17473;XM_005246231;XM_005246232;XM_005246234 AAA62158;AAC41994;AAI56828;AAQ91332;AAY14806;AAY14996;ABC16643;BAF84319;BAF85687;EAX10925;EAX10926;NP_001258680;NP_005786;Q16602;XP_005246288;XP_005246289;XP_005246291 Hs.470882;Hs.744587 1338110;1661519;1669962;1705368;1715751;1719717;1734754;1747981;1751481;1849993;2108713;2161781;2166799;5014051;5022200;5022651;5093136;7186944 A006O27;A009H16;CALCRL_7967;D11S2921;D2S152;D2S1541E;D8S2278;G32541;G66836;L18426;RH119322;RH123547;RH70468;SGC31527;SHGC-105313;SHGC-34224;SHGC-83539 CGRPR;CRLR CGRP type 1 receptor;OTTHUMP00000163474;OTTHUMP00000205433;OTTHUMP00000205434;calcitonin gene-related peptide type 1 receptor;calcitonin receptor-like receptor protein-coding ENSG00000064989 HGNC:16709 11809 114190 VALIDATED 1350868 CALM2P3 calmodulin 2 pseudogene 3 13 13 13 q14.11 22802541 22803177 - 41744724 41745342 - 41170588 41171206 - 1999288 807 ABBA01021276;AL354696;AMYH02027917;NG_004858;X52956 pseudo HGNC:1448 INFERRED 1345562 CALM1P1 calmodulin 1 (phosphorylase kinase, delta) pseudogene 1 X X X q21.33 95279440 95279547 + 94754807 94754914 + 95499808 95499915 + 24244333;2885258;7925473 802 ABBA01064717;AL022161;AMYH02039997;NG_001089;U12435 1702076 DXS1398 CALML1 pseudo HGNC:1443 INFERRED 1353740 CALM2P1 calmodulin 2 pseudogene 1 17 17 17 q24.3 64809189 64810303 + 68237388 68238519 + 70241247 70242378 + 2717417 100128390 ABBA01028923;AC005242;AMYH02033901;NG_002716;X13907 1742223 GDB:193857 pseudo HGNC:1446 INFERRED 735369 CALM1 calmodulin 1 (phosphorylase kinase, delta) This gene encodes a member of the EF-hand calcium-binding protein family. It is one of three genes which encode an identical calcium binding protein which is one of the four subunits of phosphorylase kinase. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 14 14 14 q32.11 70910477 70921767 + 90863327 90874619 + 90396983 90408275 + 1300048;2305981;6480464;6892953;6484113;6907045;7204676;7204677;7240705;7240708;2311420;8699517;8554872;7240710 10487978;10884684;16054095;18083096;21216827;22717267;23091085 10026195;10026200;10075657;10075700;10088721;10333484;10411641;10416864;10488094;10547355;10625668;10681496;10692436;10747990;10748158;10757985;10816571;10823944;10827182;10852921;10860555;10880439;10893241;10899953;11054265;11072229;11171103;11178895;11248124;11278607;11286509;11323678;11395482;11397791;11448995;11457836;11585916;11734550;11736632;11741295;11807557;11811958;11827172;11847276;11953448;11981030;11984006;12006621;12032157;12034722;12051765;12135876;12153558;12202484;12221128;12223552;12358748;12408866;12446675;12475216;12477932;12509414;12556500;12594225;12610000;12626507;12626508;12715898;12724311;12727204;12805215;12808128;12809501;12821674;12901717;12925680;1332771;14551202;14594800;14613930;14695896;14960328;14985437;15048887;15087444;15104175;15147735;15161933;1519061;1520270;15229223;15316014;1544444;15494036;15522886;15583004;15632291;15664518;15670850;15746150;15746172;15746192;15806159;15817490;15840729;15851513;15902271;15990872;16013055;16030015;16051151;16051665;16084495;16127172;16154564;16229872;16258073;16299511;16338416;16344560;16359877;16512683;16522924;1660262;16613843;16627785;16760425;16799092;17046994;17202341;17314412;17379601;17550899;17568776;17569884;17580302;17654480;17696464;17884685;1790714;17942410;17975119;18001530;18070603;18178620;18370588;18452398;18553937;18567582;1872871;18768750;18940010;18989758;19023099;19034380;19080622;19133300;19190083;19322201;19358819;19596235;19614740;19615732;19658100;19667195;19855925;19913121;20012528;20103772;20301466;20468064;20488189;20562859;20618440;20628086;2062825;20639865;20705923;20738160;20876399;20946164;20956522;21047202;21102557;21124984;21145461;21150319;21167176;2123288;21372285;21439835;21555518;2161834;21640070;21664913;21726808;21730051;21799007;21901608;21963094;21988832;22004035;22009783;22009847;22044025;22100452;2223880;22266860;22295092;22323446;22342729;22363329;22437832;22451665;22486744;22505724;22588125;22767601;22768143;22779921;22801425;22803592;22856685;22939629;22996592;23019329;23040497;23077317;23152621;23159936;23235156;23285036;23300090;23322042;23352230;23370391;23388215;23398456;23437200;23438482;23457304;23552119;23624269;23658780;23662433;23705972;23743201;23755207;23760276;23798571;23831686;23838429;23967355;24032677;24088894;24419375;2445749;24457600;24500712;24530797;2455687;24816145;2487274;2507540;2853949;3111527;3350007;3472906;6385987;6847627;7490111;7525583;7559563;7593266;7607248;7642608;7836475;7887964;7925473;7947686;8206911;8226798;8312049;8314583;8486648;8573130;8625412;8626479;8631777;8639568;8663089;8670801;8756646;8769426;8780394;8824319;8862395;8872303;8900147;8901523;9003189;9009191;9092566;9096366;9115241;9188503;9202019;9278050;9282777;9341188;9362478;9374536;9490638;9512352;9658102;9677319;9681195;9728925;9753452;9774336;9822657;9837900;9923700;9952395 801 B4DJ51;E7ETZ0;G3V226;G3V361;G3V479;P62158 ABBA01030501;AC006536;AI651063;AK289937;AL512791;AMYH02029725;AMYH02029726;AU122722;AY189287;BC000454;BC007965;BC008597;BC011834;BC042831;BC047523;BT006818;BX479707;BX482177;BX537677;BX648223;CH471061;M27319;NG_013338;NM_006888;U12022;U16850;U16851;XM_006720258 AAA35635;AAB60644;AAD45181;AAH00454;AAH07965;AAH08597;AAH11834;AAO86731;AAP35464;BAF82626;EAW81427;EAW81428;NP_008819;P62158;XP_006720321 Hs.282410 1658699;1666022;1712188;1730279;1730341;1772524;1788760;1790313;2116051;2116053;2130182;2134446;2144055;2150520;2159826;2184383;2190511;5016476;5017841;7184691;7184708;7186388 1928;CALM1;D14S1231;D14S642E;D14S89E;D14S901;D14S98E;EST13B3;G06214;G54145;GDB:433805;IB3608;RH11167;RH11243;RH130082;RH70561;SHGC-30527;SSC3C06;WI-18834 CALM2;CALM3;CALML2;CAMI;CPVT4;DD132;PHKD;caM OTTHUMP00000244938;OTTHUMP00000244939;OTTHUMP00000244940;OTTHUMP00000244941;OTTHUMP00000244942;calmodulin;calmodulin 1;phosphorylase kinase, delta subunit;prepro-calmodulin 1 APPROVED protein-coding ENSG00000198668 HGNC:1442 00241 114180;614916 REVIEWED 5129008 CALM2P4 calmodulin 2 pseudogene 4 13 13 13 q32.2 80137079 80137577 - 99293063 99293561 - 98640809 98641307 - 643193 ABBA01027136;AL356423;AMYH02028579;NG_011335 2144817 G17682 pseudo HGNC:39661 INFERRED 730856 CALD1 caldesmon 1 This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 7 7 7 q33 129201597 129392887 + 134464164 134655480 + 134779413 134970729 + 1580863;2314036;6480464 10644879 10559276;10766836;10919986;11098082;11736632;11759055;11894847;11996092;12477932;12613668;14627618;1465449;14702039;15047636;15146197;15161654;15226374;15456752;15489334;15521070;1555769;15958622;16009940;1601129;16115893;16130169;16344560;16800003;17081983;17582218;17620599;17631293;18029348;18353764;18772142;1885618;19582387;19764806;19834610;19875381;19889635;20360068;20379614;2050683;20801058;20811636;21044950;21131830;21139048;21184254;21626272;21738699;22316291;22863883;22939629;23000965;23196794;23265641;23398456;23418348;23575144;24255178;24332808;8307018;8581978;8889548;9003189;9415999 800 C9J813;C9JE79;C9JEK3;E7EX44;E9PGZ1;F8WE61;Q05682 AB062484;ABBA01001111;ABBA01001112;AC019014;AC083870;AF247820;AF315788;AI926727;AJ223812;AK021691;AK022222;AK022456;AK289686;AK298524;AK300282;AK304729;AL601004;AMYH02016810;AMYH02016811;AU134367;BC005006;BC014035;BC015839;BC040354;BC061926;BF675655;BF965359;BQ010124;BU683034;BX538339;BX640946;BX648808;BX649088;CA433571;CA447404;CD359921;CH236950;CH471070;CK821334;CN314587;CS158819;CV573441;D90452;D90453;DA323544;DA546174;DB090561;M64110;M83216;NG_029186;NM_004342;NM_033138;NM_033139;NM_033140;NM_033157;XM_006716136;XM_006716137;XM_006716138;XM_006716139 AAA35636;AAA58419;AAA58420;AAF69498;AAH05006;AAH14035;AAH40354;AAH61926;BAA14418;BAA14419;BAB93509;BAF82375;BAG60727;BAG65492;BAH13250;CAD98104;CAI46261;CAJ29926;EAW83826;EAW83827;EAW83828;EAW83830;EAW83831;EAW83832;EAW83833;EAW83834;EAW83835;NP_004333;NP_149129;NP_149130;NP_149131;NP_149347;Q05682;XP_006716199;XP_006716200;XP_006716201;XP_006716202 Hs.490203 1648656;1648658;1664666;1673991;1701272;1706652;1768782;1846672;1853386;2121980;2131009;2168056;2178415;2178417;5022578;5024039;5024547;5037552 A005L07;CALD1;D16S325;D1S1423;D1S3698;D7S2330;D7S2751;D8S2279;G20301;GDB:1317196;GDB:4585525;RH104265;RH11457;RH16186;SHGC-34706;SHGC-82810;WI-17596;WI-9105 CDM;H-CAD;HCAD;L-CAD;LCAD;MGC21352;NAG22 OTTHUMP00000207948;OTTHUMP00000207949;OTTHUMP00000207950;OTTHUMP00000207952;OTTHUMP00000207953;OTTHUMP00000207954;OTTHUMP00000207955;OTTHUMP00000214473;caldesmon APPROVED protein-coding ENSG00000122786 HGNC:1441 00251 114213 REVIEWED 1352091 CALML1 calmodulin-like 1 809 HGNC:1450 736342 CALM2 calmodulin 2 (phosphorylase kinase, delta) ENCODES a protein that exhibits calcium ion binding; ion channel binding; N-terminal myristoylation domain binding; INVOLVED IN detection of calcium ion; positive regulation of cyclic nucleotide metabolic process; positive regulation of cyclic-nucleotide phosphodiesterase activity; PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; N-cadherin signaling pathway; p38 MAPK signaling pathway; ASSOCIATED WITH Depressive Disorder, Major; FOUND IN calcium channel complex; centrosome; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-) 2 2 2 p21 47226054 47242551 - 47387221 47404229 - 47160082 47176601 - 1300048;2305981;6480464;6484113;6892958;6907045;7204676;7204677;7240705;7240708;2311420;8554872 10487978;10884684;16054095;18083096;22717267;22885997;23091085 10075700;10416864;10625668;10692436;10757985;10816571;10823944;10899953;11054265;11072229;11286509;11591728;11736632;11741295;11847276;11953448;11981030;11984006;12032157;12051765;12153558;12189141;12221128;12477932;12577052;12821674;14613930;14702039;15225611;15342556;15632291;15723066;16051665;16127172;16169070;16189514;16229872;16545345;16760425;17046994;17189291;17202341;17687619;18370588;18553937;19190083;19584346;19913121;20000738;20012528;20198394;20379146;20379614;20628086;20639865;20876399;20956522;21047202;21078624;21139048;21145461;21546767;21565611;21726808;21799007;21890473;21906983;21963094;21987572;21988832;22053931;2223880;22323446;22331908;22505724;22633975;22939629;23000965;23077317;23349634;23388215;23798571;2445749;24816145;3111527;7607248;8076819;8226798;8312049;8314583;8573130;8631777;8780394;8862395;9096366;9242710;9278050;9282777;9362478;9658102;9681195;9923700 805 B4DJ51;E7EMB3;F8WBR5;H0Y7A7;P62158 ABBA01075153;AC073283;AI873701;AK055130;AK315694;AMYH02003750;AMYH02003751;BC003354;BC006464;BC008437;BC017385;BC018677;BC026065;BC047553;BP370358;BT009916;CH471053;CR541990;CR542021;D45887;M19311;NM_001743;U94725;U94726;U94727;U94728 AAA35641;AAC83174;AAH03354;AAH06464;AAH08437;AAH17385;AAH18677;AAH26065;AAP88918;AAY24085;BAA08302;BAG38057;CAG46787;CAG46818;EAX00220;EAX00221;EAX00222;EAX00223;NP_001734;P62158 Hs.468442 1742223;1746043;2121606;2158019 GDB:193857;RH125634;SHGC-30221;WI-9106 CALM1;CALM3;CAMII;FLJ99410;PHKD;PHKD2;caM LP7057 protein;OTTHUMP00000159070;OTTHUMP00000202341;OTTHUMP00000202343;calmodulin;phosphorylase kinase delta;prepro-calmodulin 2 protein-coding ENSG00000143933 HGNC:1445 00242 114182 VALIDATED 1344512 CALM2P2 calmodulin 2 pseudogene 2 10 10 10 q22.1 65202461 65203593 + 71923365 71924497 + 70163609 70164741 + 1999288 806 ABBA01019620;AL731540;AMYH02023281;NG_001091;X52955 pseudo HGNC:1447 INFERRED 7175949 CALML3-AS1 CALML3 antisense RNA 1 10 10 p15.1 663 1414 + 5557803 5558553 - 16344560 100132159 AK128534;AL732437;DA220455;DA770774;NR_120496;NR_120497;XR_158859;XR_159195;XR_171832 BAC87486 Hs.239600;Hs.678826;Hs.738690 ncrna HGNC:44682 VALIDATED 737387 CALM3 calmodulin 3 (phosphorylase kinase, delta) ENCODES a protein that exhibits calcium ion binding; ion channel binding; N-terminal myristoylation domain binding; INVOLVED IN detection of calcium ion; positive regulation of cyclic nucleotide metabolic process; positive regulation of cyclic-nucleotide phosphodiesterase activity; PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; N-cadherin signaling pathway; p38 MAPK signaling pathway; FOUND IN calcium channel complex; centrosome; extracellular vesicular exosome; INTERACTS WITH acetylsalicylic acid; afimoxifene; arsenite(3-) 19 19 19 q13.2-q13.3 43908038 43917566 + 47104512 47114039 + 46601255 46610782 + 1300048;2305981;6480464;6484113;6907045;7204676;7204677;7240705;7240708;2311420 10487978;10884684;16054095;18083096;22717267;23091085 10373510;10416864;10625668;10692436;10737800;10757985;10781589;10816571;10823944;10880439;10899953;11054265;11072229;11278607;11286509;11448995;11591728;11685248;11710561;11736632;11741295;11807546;11847276;11953448;11981030;11984006;12032157;12051765;12153558;12189141;12221128;12477932;12485993;12508121;12577052;12821674;12871148;14594800;14613930;14622581;14627618;14630798;14701808;14702039;1474585;14960328;15032605;15140941;15489334;15592455;15632291;15719022;15723066;15746192;15815621;16127172;16169070;16189514;16229872;16299511;16760425;17046994;17353931;17620599;17719545;18370588;18553937;18567582;18768750;19001277;19190083;19322201;19380743;19429631;19913121;20012528;20379146;20628086;20639865;20876399;20956522;21047202;21078624;21145461;21726808;21799007;21906983;21963094;21980498;21987572;2223880;22323446;2244899;22505724;22939629;23077317;23128233;23798571;24163370;2445749;24816145;3111527;3182832;6330098;6385987;6457647;7093203;7607248;7803388;7925473;8226798;8312049;8314583;8476923;8573130;8615909;8631777;8702940;8780394;8862395;9096366;9188442;9242710;9256481;9278050;9362478;9580552;9658102;9681195;9804419;9923700;9927666 808 B4DJ51;M0QZ52;P62158;Q96HY3;Q9BRL5 ABBA01040980;AC093503;AK094964;AK295927;AK310762;AL050207;AMYH02036230;AW883334;AX887973;BC005137;BC006182;BG753029;BT006855;CH471126;FJ224310;J04046;NM_005184;X52606;X52608 AAA51918;AAH05137;AAH06182;AAP35501;ACI46002;BAG58713;CAA36839;CAE93898;EAW57425;EAW57426;EAW57427;EAW57428;EAW57429;NP_005175;P62158 Hs.515487 2115359;2183963;2189473 MARC_7076-7077:992008234:1;NIB1538;RH11519 CALM1;CALM2;HEL-S-72;PHKD;PHKD3;caM OTTHUMP00000164793;OTTHUMP00000164794;calmodulin;calmodulin 3;epididymis secretory protein Li 72;prepro-calmodulin 3 protein-coding ENSG00000160014 HGNC:1449 00243 114183 VALIDATED 1346825 CALML6 calmodulin-like 6 ENCODES a protein that exhibits calcium ion binding (inferred); PARTICIPATES IN Alzheimer disease pathway; glioma pathway; gonadotropin-releasing hormone signaling pathway; FOUND IN cytoplasm (inferred); nucleus (inferred) 1 1 1 p36.33 746319 748788 - 1846266 1848733 + 1914827 1917294 + 1580863;6907045 12477932;15621662;16710414;18029348;19294699 163688 B1AKR1;Q8TD86 ABBA01016077;AF490905;AL109917;AMYH02000112;AY566229;BC053567;CH471183;NM_138705;XM_005244729 AAI60060;AAM08411;AAS67001;EAW56144;EAW56145;EAW56146;NP_619650;Q8TD86;XP_005244786 Hs.85902 CAGLP EF-hand protein;OTTHUMP00000001117;OTTHUMP00000179025;calglandulin-like protein;calmodulin-like protein 6 protein-coding ENSG00000169885 HGNC:24193 12997 610171 VALIDATED 1320724 CALML5 calmodulin-like 5 This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. [provided by RefSeq, Jul 2008] 10 10 10 p15.1 5471713 5472588 - 5540658 5541533 - 5498695 5499570 - 1580863;6480464;6907045 10777582;11407979;11969404;12477932;15489334;16196087;16689864;16765896;16934469;17353931;19294699;19615732;21139048;21145461;22145905;22810585;23519124;24146193;24279918;8125298 51806 Q53H37;Q9NZT1 ABBA01034777;AF172852;AK222744;AL732437;AMYH02022043;BC039172;CH471072;NM_017422 AAF66821;AAH39172;ADZ15995;BAD96464;EAW86444;NP_059118;Q9NZT1 Hs.180142 CLSP OTTHUMP00000019005;calmodulin-like protein 5;calmodulin-like skin protein APPROVED protein-coding ENSG00000178372 HGNC:18180 05538 605183 REVIEWED 1344788 CALML4 calmodulin-like 4 ENCODES a protein that exhibits calcium ion binding (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 15 15 15 q23 45367956 45383362 - 68483043 68498448 - 68190705 68206110 - 6480464 12477932;12747765;14702039;16344560;23377640 91860 H3BM27;H3BM29;H3BS46;Q96GE6 ABBA01038785;AC107871;AF308287;AK092628;AK296804;AMYH02030681;BC009516;BC015215;BX439220;BX640702;BX640817;CH471082;DB204573;NM_001031733;NM_001286694;NM_001286695;NM_033429;NR_104583 AAG48255;BAG59377;CAE45822;CAE45894;EAW77808;EAW77809;EAW77810;NP_001026903;NP_001273623;NP_001273624;NP_219501;Q96GE6 Hs.709550 1647814;1684345;2109165;2161399;2161627 CLN6_9860;RH91440;STS-N52768;STS-W81097;WI-18401 MGC4809;NY-BR-20 OTTHUMP00000164388;OTTHUMP00000194712;calmodulin-like protein 4;serologically defined breast cancer antigen NY-BR-20 protein-coding ENSG00000129007 HGNC:18445 12998 VALIDATED 1344159 CALM1P2 calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 7 7 7 p11.2 55430633 55431016 - 55327411 55327794 - 55259718 55260101 - 7925473 804 ABBA01011850;AC073324;AMYH02015732;CH236957;NG_001090;U12475 pseudo HGNC:1444 INFERRED 731575 CALR calreticulin Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008] 19 19 19 p13.3-p13.2 12939147 12945035 + 13049414 13055304 + 12938600 12944490 + 1580863;704416;2326172;2326165;6480464;6907045;7204686;7240710;8554872;8699517 11907032;15289361;18563736;20356453 10198260;10358038;10364189;10436013;10508608;10513896;10547375;10581245;10887119;10929008;11149926;11322874;11327697;11378243;11765911;11825569;11842004;11859136;11891802;12047747;12052826;12065601;12147682;12196561;12235131;12239218;12242300;12324449;12362238;12383251;12397072;12477932;12538033;12584332;12646570;12704787;12740382;12821648;1286667;1286669;14624761;14726956;14732231;14980518;14985176;15056662;15057824;15231747;15236594;15351734;15371419;15383281;15474971;15489334;15494401;15596044;15634883;15855281;15893733;15896298;15952740;15998798;16130169;16140380;16236267;16502470;16522185;16522924;16527813;16542777;16951181;16951317;16974078;17009399;17055437;17215244;1733953;17353931;17390051;17499031;17563366;17655857;17947714;17959730;17982021;18022694;18029348;18177377;18221019;18303019;18417548;18559259;18641393;18653767;18765291;18791162;18795239;18801343;18925427;19050968;19054761;19100874;1911778;19154346;1919005;19199708;19322201;1939344;19470730;19524015;19567621;19580784;19608864;19659458;19684620;19760677;19913121;19946888;20000738;20360068;20480531;20533543;20624402;20628086;20699648;20834237;20855873;20861015;20929309;21075854;21115737;21139048;21142150;21178137;21182888;21319273;21423620;21447409;21652723;21693764;21723904;21890473;21900206;21906983;21911577;21996511;22024156;22079093;22083347;22174317;22190034;22242185;22304920;22377355;22415225;22415851;22429966;22492046;22507216;22511615;22586326;22661095;22773372;22844112;22863883;22915645;22939629;22952844;23000965;23222517;23233327;2332496;23334957;23364915;23375593;23378602;23464991;23535532;23564462;23585889;23587357;2365822;23667531;23771121;23791743;23814025;23862649;23874603;23972286;2400400;24035512;24169561;24214877;24244333;24264800;24325356;24325359;24365789;24366362;24371211;24402162;24421250;24441291;24457600;24458922;24476766;24476767;24480782;24496303;24504025;24523226;24531734;24553179;24569778;24583282;24593306;24639526;24753125;24764562;24816145;25118376;3260607;7559457;7592883;7622522;7841019;7876246;7923996;8006073;8050453;8062452;8107808;8107809;8125298;8418194;8537405;8550632;8662691;8666824;8769474;8805302;8904349;8910335;9036970;9089287;9150948;9312001;9359841;9427624;9525969;9545232;9671507;9693955;9988700 811 K7EJB9;K7EL50;K7ELE2;P27797;V9HW88 AB451408;ABBA01029763;AC092069;AD000092;AF087986;AK130190;AK223060;AK295230;AK304492;AMYH02035560;AMYH02035561;AY047586;BC002500;BC007911;BC020493;BC107102;BT007448;CH471106;CR457070;CS288581;FJ224311;JA462404;M32294;M84739;NG_029662;NM_004343 AAA36582;AAA51916;AAB51176;AAH02500;AAH07911;AAH20493;AAL13126;AAP36116;ACI46003;BAD96780;BAG58223;BAG65301;BAG70222;CAG33351;CAK18761;CCD35250;EAW84330;EAW84331;EAW84332;NP_004334;P27797 Hs.515162 2134870;2217102 CALR_3945;STS-M84739 CRP55;CRT;ERp60;FLJ26680;HACBP;HEL-S-99n;RO;SSA;cC1qR;grp60 Sicca syndrome antigen A (autoantigen Ro, calreticulin);Sicca syndrome antigen A (autoantigen Ro; calreticulin);autoantigen Ro;calregulin;endoplasmic reticulum resident protein 60;epididymis secretory sperm binding protein Li 99n APPROVED protein-coding ENSG00000179218 HGNC:1455 00169 109091;187950;254450 REVIEWED 1314120 CALN1 calneuron 1 This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 7 7 7 q11 64619023 65251883 - 71244476 71912136 - 71779491 72412375 - 1580863;6480464;8554872 11286509;12477932;12690205;12853948;14702039;15489334;16344560;19338761;20379614;21926974;22837378;24529757;8619474;9110174;9847074 83698 A4D1Z1;E9PFU3;Q9BXU9 ABBA01063998;ABBA01063999;ABBA01064000;ABBA01064001;ABBA01064002;ABBA01064003;ABBA01064004;ABBA01064005;ABBA01064006;ABBA01064007;ABBA01064008;ABBA01064009;ABBA01064010;ABBA01064011;ABBA01064012;ABBA01064013;ABBA01064014;ABBA01064015;AC004845;AC004905;AC005011;AC006334;AC067941;AC092424;AC092785;AF282250;AK091485;AK094469;AK123862;AK313054;AL117636;AMYH02016001;AMYH02016002;AMYH02016003;AMYH02016004;AMYH02016005;AMYH02016006;AMYH02016007;AMYH02016008;AMYH02016009;AMYH02016010;AMYH02016011;AMYH02016012;AY007302;AY726595;BC020200;BG718538;CH236952;CH471140;DA101934;DA150825;DA805580;KF458476;KF458481;NM_001017440;NM_031468;XM_006716146 AAG09620;AAH20200;AAK15155;AAP21872;AAP21889;AAS02041;AAS07466;AAS07507;ABM83066;ABM86260;BAG35885;BAG53974;EAL23970;EAX07901;EAX07902;NP_001017440;NP_113656;Q9BXU9;XP_006716209 Hs.592750 1334667;1337127;1340458;1341086;1342170;1645683;1645685;1659733;1660782;1662784;1667776;1667923;1667925;1696488;1725549;1735714;1740009;1768597;1770506;1777189;1851919;1857574;2114152;2122357;2124026;2129966;2131898;2133684;2136500;2137329;2143861;2144400;2145591;2156358;2160406;2161619;2168783;2171267;2175424;7183772;7185353;7185430;7185497;7185536;7186011;7186154;7186740 A005B02;A006A08;A006O39;A007B21;D7S1483;D7S1497;D7S1499;D7S1511;D7S1607;D7S1776;D7S1816;D7S1843;D7S2025;D7S2161E;D7S2169E;D7S2393;D7S2415;D7S2633;D7S2933;D7S653;D7S672;G17123;G20236;G20644;GDB:1234276;GDB:1317540;GDB:1317622;GDB:1318633;GDB:3754362;GDB:3755065;RH119173;RH11992;RH44479;SHGC-32199;SHGC-4640;SHGC-79816;WI-19877;WI-21143;WI-21173 CABP8 OTTHUMP00000160216;OTTHUMP00000198477;OTTHUMP00000198493;OTTHUMP00000210382;OTTHUMP00000210383;calcium-binding protein 8;calcium-binding protein CABP8;calneuron I;calneuron-1 APPROVED protein-coding ENSG00000183166 HGNC:13248 06209 607176 VALIDATED 1313562 CALML3 calmodulin-like 3 ENCODES a protein that exhibits calcium ion binding (inferred); PARTICIPATES IN Alzheimer disease pathway; glioma pathway; gonadotropin-releasing hormone signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH arsenite(3-); isotretinoin; simvastatin 10 10 10 p15.1 5498075 5499376 + 5566924 5568231 + 5524961 5526262 + 1580863;6480464;6907045 11278607;11426940;12067719;12477932;1334432;15164054;15489334;16189514;16385451;17130134;18570893;18818677;19056867;19166543;19615732;21044950;21988832;22145905;2217169;23638045;24163370;24244333;24457600;3181418;8428750;8476923;8507643 810 P27482 ABBA01034777;AK313934;AL732437;AMYH02022043;BC031889;CH471072;CU454493;DR421766;FB335818;HH767157;HY060230;M36707;M58026;NM_005185;X13461 AAA36356;AAH31889;ABM82702;ABM85886;BAG36653;CAA31809;CAR80870;CBX84343;EAW86443;NP_005176;P27482 Hs.239600 1743153 GDB:277110 CLP OTTHUMP00000019004;caM-like protein;calmodulin-like protein 3;calmodulin-related protein NB-1 protein-coding HGNC:1452 00244 114184 VALIDATED 3399173 CALR4P calreticulin 4, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p32.3 50306918 50334964 + 52020400 52035422 - 51554728 51569750 - 6480464 20210993 441884 ABBA01074794;AC104170;AL772260;AMYH02001000;NG_021361 pseudo HGNC:35456 INFERRED 1601759 CALY calcyon neuron-specific vesicular protein The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128367054 128378600 + 135138928 135150482 - 133325424 133336971 - 6480464 11583808;12477932;14534309;14755439;15489334;16172615;16385451;16595675;17081983;17623072;17885599;19352218;20468064;20602615;21415033;22843680 50632 Q9NYX4 ABBA01006212;AF225903;AL360181;AMYH02024091;AMYH02024092;BC038978;BI914942;BP392207;CH471211;NM_015722;XM_005252685 AAF34714;AAH38978;EAW61334;EAW61335;NP_056537;Q9NYX4;XP_005252742 Hs.148680 DRD1IP;NSG3;RP11-122K13.5 D1 dopamine receptor-interacting protein;OTTHUMP00000020793;OTTHUMP00000020795;calcyon D1 dopamine receptor-interacting protein (CALCYON);calcyon protein;dopamine receptor D1 interacting protein;neuron-specific vesicular protein calcyon APPROVED protein-coding ENSG00000130643 HGNC:17938 06871 604647 VALIDATED 1319475 CALR3 calreticulin 3 The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011] 19 19 19 p13.11 16491740 16508840 - 16589767 16607015 - 16479057 16496192 - 1580863;6480464;8699517;7240710;8554872 12384296;12477932;14702039;15342556;15489334;16159877;17975137;21590275;21738480 125972 M0R0Y8;Q96L12 AA724299;AA910019;AB576176;ABBA01051147;ABBA01051148;AC008764;AK058084;AMYH02035684;BC014595;BP370084;CH471106;CS288583;DB459545;DB510196;NG_031959;NM_145046 AAH14595;ABM81829;ABM84982;BAB71655;BAJ14705;CAK18762;EAW84546;NP_659483;Q96L12 Hs.304020 CMH19;CRT2;CT93;FLJ25355;MGC26577 calreticulin 2;calreticulin-2;calreticulin-3;calsperin;cancer/testis antigen 93 APPROVED protein-coding ENSG00000269058 HGNC:20407 12999 611414;613875 REVIEWED 733017 CALU calumenin The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 7 7 7 q32.1 123175101 123207285 + 128379346 128413477 + 128739292 128773423 + 1580863;2316232;6480464;8554872 18776587 10094503;10222138;10631319;11076863;11230166;11827452;12477932;12643545;12665801;12690205;14702039;15489334;15489336;16303743;16344560;16381901;16964243;17048007;17049586;17081065;17081983;17110338;17189218;17596133;18029348;18688696;19794411;19913121;19946888;19958090;20020283;20149073;20200517;20360068;20499136;20553802;20628086;20673165;21057703;21139048;21565611;21890473;21906983;21963094;21988832;22113938;22188360;22190034;22268729;22304920;22514732;22768251;22863883;22939629;23402259;23438482;23443559;23455924;23464991;23704328;23752268;24244333;25036637;9218460;9598325;9675259 813 B3KQF5;H0Y875;O43852;Q6IAW5 ABBA01057656;AC024952;AF013759;AF257659;AF345637;AK027460;AK056338;AK074862;AK075089;AK312446;AMYH02016719;AW068942;BC013383;BF438624;BT006826;BT020143;BX091230;CH236950;CH471070;CR457039;CR541835;DA023987;DA703012;HM002604;HM002605;HM002606;HM002607;HM002609;HM002610;HM002611;HM002613;HM002615;HM002616;NG_033110;NM_001130674;NM_001199671;NM_001199672;NM_001199673;NM_001219;NR_074086;U67280 AAB97725;AAC17216;AAF76141;AAH13383;AAK72908;AAP35472;AAV38945;ABM83159;ABM86360;ADG45004;ADG45005;ADG45006;ADG45007;ADG45009;ADG45010;ADG45011;ADG45013;ADG45015;ADG45016;BAG35353;BAG51328;BAG51681;BAG52017;BAG52065;CAG33320;CAG46634;CAL37464;CAL37467;CAL37505;CAL37557;CAL37588;CAL37696;CAL37834;CAL37878;CAL37907;CAL37987;CAL38060;CAL38141;CAL38267;CAL38335;CAL38634;CAL38691;EAL24113;EAW83674;EAW83675;EAW83676;EAW83677;EAW83678;EAW83679;NP_001124146;NP_001186600;NP_001186601;NP_001186602;NP_001210;O43852 Hs.743262;Hs.7753 1645033;1651881;1661898;1662194;1679934;1770183;1775395;1855479;1855481;2106795;2106797;2157114;2162104;2173773;2176856;2178426;2181468;5093314;5491419 A002N36;A006B29;A009L17;G20679;G32645;MARC_11525-11526:1001518036:1;RH12835;RH44842;RH45162;RH48732;RH64944;RH66822;SHGC-35138;SHGC-52887;STS-H01049;STS-M13299;STS-N32527;UniSTS:464721;UniSTS:464722 FLJ90608 IEF SSP 9302;OTTHUMP00000212712;OTTHUMP00000212713;OTTHUMP00000212714;OTTHUMP00000212715;crocalbin;crocalbin-like protein;multiple EF-hand protein;reticulocalbin APPROVED protein-coding HGNC:1458 04569 603420 REVIEWED 736752 CAMK2A calcium/calmodulin-dependent protein kinase II alpha The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008] 5 5 5 q32 145680447 145750799 - 149599054 149669403 - 150219491 150289840 - 1580863;6480464;6484113;6907045;7240705;7240704;8554872 22334212;22717267 10090741;10231032;10318869;10347170;10373510;10400690;10629061;10737616;10737800;10753652;10851169;10861222;10862698;10874031;11013247;11027280;11104776;11160423;11222640;11264466;11278737;11306676;11331285;11397791;11447121;11459059;11468283;11679592;11710563;11751951;11814622;11867691;11889801;11930170;12147342;12223541;12387894;12408851;12435421;12475968;12477932;12486117;12619878;12630910;12815021;12871946;12933808;12951199;12954639;1309762;1314426;1374067;1375933;14622581;14684825;14702098;14722083;14970204;15044063;15140879;15312654;15358237;15621017;15673434;15757646;15866054;16027165;16115892;16120608;16247765;16436603;1650365;16557530;16565089;16820363;17052756;17202341;17221287;17353931;17512525;17568776;17603807;17627985;17632540;18218981;18227124;18292392;18305109;18311135;18803808;19156168;19213956;19328558;19453375;19638347;20053885;20178748;20379614;21124984;2114109;21315782;2155236;21610080;21611732;2164678;21906983;22023388;22360420;22427672;22496345;22496558;22505582;22514303;22573680;22815963;22824813;22939624;22939629;23000965;23251661;23260144;23402759;23459588;2394752;24407174;24781523;24855644;3475713;7523419;7706316;7822264;7929371;8413226;8615909;8663317;8665664;8940188;8980240;8999860;9099667;9115241;9452387;9452388;9481670;9724800;9735171;9771888;9813144;9832145 815 A8K161;D6RFJ0;D6RHX9;Q7LDD5;Q8IWE0;Q9UQM7 AB023185;ABBA01026282;ABBA01026283;AC011372;AF091486;AF145710;AF145711;AK289776;AK308853;AMYH02012455;AY429524;BC040457;BF951952;CH471062;KF458035;NM_015981;NM_171825 AAD30558;AAD30559;AAD55815;AAH40457;ACE86769;ACE87455;BAA76812;BAF82465;EAW61741;EAW61742;NP_057065;NP_741960;Q9UQM7 Hs.743976 1654846;1660904;1780608;1795468;2147676;2172992;2187811;5123329 1954;CAMK2A__1170;D17S1195;G69463;RH11735;RH35759;WI-16284;bac51383T KIAA0968 CAMKA;CaM kinase II alpha subunit;CaM-kinase II alpha chain;CaMK-II alpha subunit;CaMKIINalpha;OTTHUMP00000165787;OTTHUMP00000165788;caM kinase II subunit alpha;caMK-II subunit alpha;calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha;calcium/calmodulin-dependent protein kinase II alpha-B subunit;calcium/calmodulin-dependent protein kinase type II alpha chain;calcium/calmodulin-dependent protein kinase type II subunit alpha APPROVED protein-coding ENSG00000070808 HGNC:1460 06532 114078 REVIEWED 731618 CAMK1 calcium/calmodulin-dependent protein kinase I Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008] 3 3 3 p25.3 9733733 9746362 - 9799029 9811676 - 9757345 9769992 - 1580863;6480464 10187789;10400690;10571231;10874031;11081517;11114197;11395482;12193581;12237306;12475216;12477932;12539042;12630910;12665801;12935886;1375933;14507913;14754892;15166223;15251453;15367659;15489334;15680915;16767219;17442826;18089838;18184567;19086053;19100722;19844571;19913121;20433920;20468064;20628086;21139048;21249615;21791615;21832049;23028635;23602568;23707388;7559563;7641687;8384217;9395448;9662074;9705275;9822657 8536 B0YIY3;C9JES6;F8W6S9;H7C071;Q14012 AA724193;AB451277;AB451407;ABBA01020400;AC022382;AK314917;AMYH02006236;BC106754;BC106755;BI546222;CH471055;DN990042;EF444963;L41816;NM_003656;XM_005265516;XM_005265517 AAA99458;AAI06755;AAI06756;ACA05961;ACE87772;ACT64438;BAG37428;BAG70091;BAG70221;EAW63989;EAW63990;EAW63991;EAW63992;EAW63993;NP_003647;Q14012;XP_005265573;XP_005265574 Hs.434875 1658025;1709002;1788118;2131591;2159032 G67289;RH78923;SHGC-76687;SHGC-76689;SHGC-79567 MGC120317;MGC120318;caM-KI;caMKI-alpha CAMKI;OTTHUMP00000158527;caM kinase I alpha;calcium/calmodulin-dependent protein kinase type 1;regulator of g-protein signalling 19 APPROVED protein-coding ENSG00000134072 HGNC:1459 05412 604998 REVIEWED 1602218 CAMK2N1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ENCODES a protein that exhibits calcium-dependent protein kinase inhibitor activity (inferred); protein kinase binding (inferred); INVOLVED IN negative regulation of protein kinase activity (inferred); PARTICIPATES IN calcium/calmodulin dependent kinase 2 signaling pathway; FOUND IN cell junction (inferred); dendrite (inferred); neuronal cell body (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; 8-bromo-3',5'-cyclic AMP 1 1 1 p36.12 19133214 19137058 - 20808884 20812728 - 20482391 20486235 - 6480464;7240706;7240707 21070840;21301225 12175859;12477932;12650977;18305109;19322201 55450 Q7Z7J9;Q9P1J2 ABBA01059780;ABBA01059781;AL391357;AMYH02000430;AY204901;BC020630;BI820748;CH471134;DB475389;NM_018584 AAH20630;AAO49802;EAW94923;EAW94924;NP_061054;Q7Z7J9 Hs.731383 1660465;1665755;2126234;2138161;2143396 HSC1IC062;SHGC-35895;SHGC-74338;SHGC-74339;SHGC-74356 MGC22256;PRO1489;RP11-401M16.1 CaMKIINalpha;OTTHUMP00000002879;caMKII inhibitory protein alpha;caMKIIN-alpha protein-coding ENSG00000162545 HGNC:24190 13112 614986 VALIDATED 1603628 CAMK1D calcium/calmodulin-dependent protein kinase ID This gene encodes a member of the Ca2+/calmodulin-dependent protein kinase 1 subfamily of serine/threonine kinases. The encoded protein may be involved in the regulation of granulocyte function through the chemokine signal transduction pathway. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 10 10 10 p13 12320755 12797502 + 12391583 12871735 + 12349513 12835545 + 6480464;8554872 11050006;11264466;12477932;12935886;15164054;15489334;15840691;16324104;16385451;17056143;18029348;18372903;18976975;19020323;19020324;19139842;19324937;19383354;19602701;19670153;19720844;19741467;19794065;19833888;19933996;19953087;20080650;20161779;20379614;20418484;20571754;20677014;20712903;20862305;20879858;20889853;20927120;21044950;21832049;21909839;21988832;22863883;22923468;23251661;23459443;23568457;23824909;23840313;24159190 57118 Q5SQQ7;Q8IU85 AB081726;ABBA01034637;ABBA01034638;ABBA01034639;ABBA01034640;ABBA01034641;ABBA01034642;ABBA01034643;ABBA01034644;ABBA01034645;ABBA01034646;ABBA01034647;ABBA01034648;ABBA01034649;ABBA01034650;ABBA01034651;ABBA01034652;AF286366;AI821714;AK289393;AL391314;AL512284;AL512783;AL603717;AL731559;AMYH02022149;AMYH02022150;AMYH02022151;AMYH02022152;AMYH02022153;AMYH02022154;AMYH02022155;AMYH02022156;AMYH02022157;AMYH02022158;AMYH02022159;AMYH02022160;BC035745;BQ059621;BU542765;CH471072;EF444962;HH961742;KF510334;NM_020397;NM_153498;XM_006717481;XM_006717482;XM_006717483 AAG00534;AAH35745;ABM83390;ABM86602;ACA05958;ACA05959;ACA05960;BAC19846;BAF82082;CBX51344;EAW86314;EAW86315;EAW86316;NP_065130;NP_705718;Q8IU85;XP_006717544;XP_006717545;XP_006717546 Hs.659517 1299918;1334518;1336187;1648563;1655838;1674492;1708180;1709808;1730277;1754025;1757919;1764799;1765995;1777671;1779344;1781966;2141195;2179457;5022322;7184706;7186556 D10S1430;D10S1705;D10S2325;D10S2365;D10S236E;D11S2560;G17442;GDB:315097;RH47896;SHGC-132068;SHGC-141926;SHGC-146855;SHGC-148366;SHGC-149390;SHGC-153341;SHGC-32225;SHGC-6785;SHGC-79342;SHGC-84721 CKLiK;CaM-K1;caM-KI delta;caMKI delta CaM kinase ID;CaMKID;CamKI-like protein kinase;OTTHUMP00000019119;OTTHUMP00000019120;caM kinase I delta;calcium/calmodulin-dependent protein kinase type 1D APPROVED protein-coding ENSG00000183049 HGNC:19341 06409 607957 REVIEWED 732495 CAMK1G calcium/calmodulin-dependent protein kinase IG This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq, Jul 2008] 1 1 1 q32.2 182987934 183018193 + 209757045 209787284 + 209583700 209613939 + 6480464;8554872 10645953;12477932;12637513;14702039;15489334;16710414;19913121;20628086;20729199;21935397;21988832;22623531;22939624;23624525 57172 C9IYV2;Q96NX5 ABBA01048215;AF428261;AK095713;AK289675;AL023754;AL049688;AMYH02002598;AX399682;AY212935;BC032787;BG715920;CH471100;NM_020439 AAH32787;AAL28100;AAP29964;ABM82986;ABM86179;BAF82364;BAG53112;CAB41259;CAD33521;EAW93450;EAW93451;EAW93452;NP_065172;Q96NX5 Hs.199068 1734344;5110253 D1S70;L461 CLICK3;CLICKIII;VWS1;dJ272L16.1 CLICK III;OTTHUMP00000034556;OTTHUMP00000034557;OTTHUMP00000034558;caM kinase I gamma;caM kinase IG;caM-KI gamma;caMK-like CREB kinase III;caMKI gamma;caMKIG;calcium/calmodulin-dependent protein kinase type 1G APPROVED protein-coding ENSG00000008118 HGNC:14585 10807 614994 REVIEWED 735326 CAMK2B calcium/calmodulin-dependent protein kinase II beta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 7 7 7 p14.3-p14.1 44354715 44422313 - 44256749 44365230 - 44217150 44325631 - 1580863;6480464;6484113;6907045;7240705;7240704 22334212;22717267 10373510;10819240;10858498;11013247;11042361;11076863;11160423;11306676;11325525;11468283;11710563;11751951;11867691;11889801;12147342;12475968;12477932;12496285;12619878;12690205;12815021;12853948;14565989;14622581;14702039;14722083;15199064;15294044;15312654;15489334;15489336;15604093;15665723;15792370;16126727;16185778;16247765;16344560;16381901;16436603;17202341;17353931;17419996;18218981;18302935;18311135;18817731;19058789;19156168;20178748;20379614;21139048;21479273;21610080;21871176;21884935;21906983;21988832;22399527;22505724;22750393;22939624;23000965;23275563;23989986;24722188;2842767;3417668;7758473;8125298;8615909;8619474;8665664;8940188;9060999;9110174;9115241;9481670;9724800 816 A4D2J9;B7Z1Z6;E7EQE4;E7ERS6;E7ETC9;E9PBE8;H7BXS4;H7BZC6;H7C394;Q13554 AA399393;AB073352;ABBA01058215;ABBA01058216;ABBA01058217;AC006454;AC093086;AC106040;AF078803;AF081572;AF081924;AF083419;AF112471;AF112472;AF131776;AF140350;AI190315;AJ252236;AJ252237;AJ252238;AK091991;AK222703;AK290148;AK294138;AK315663;AMYH02015616;AMYH02015617;AMYH02015618;BC019070;BI550751;BQ130578;BX445032;CH236960;CH471128;DA069361;DB175099;DB566810;NG_029407;NM_001220;NM_001293170;NM_172078;NM_172079;NM_172080;NM_172081;NM_172082;NM_172083;NM_172084;U23460;U50358;XM_005249859;XM_005249861;XM_005249862;XM_005249864;XM_006715776;XM_006715777;XM_006715778;XM_006715779;XM_006715780;XM_006715781;XM_006715782;XM_006715783;XM_006715784 AAB16863;AAC99802;AAD03743;AAD03744;AAD42035;AAD42036;AAD42037;AAD42038;AAD42070;AAH19070;AAS02024;AAS07454;BAD96423;BAF82837;BAG38029;BAH11682;CAB65120;CAB65121;CAB65122;CAL37627;CAL37670;CAL38439;CAL38692;EAL23755;EAL23756;EAL23757;EAL23758;EAL23759;EAL23760;EAL23761;EAL23762;EAW61104;EAW61105;EAW61106;EAW61107;EAW61108;EAW61109;NP_001211;NP_001280099;NP_742075;NP_742076;NP_742077;NP_742078;NP_742079;NP_742080;NP_742081;Q13554;XP_005249916;XP_005249918;XP_005249919;XP_005249921;XP_006715839;XP_006715840;XP_006715841;XP_006715842;XP_006715843;XP_006715844;XP_006715845;XP_006715846;XP_006715847 Hs.351887 1647837;1704772;1758075;1786466;1855772;2163188;2173183 D7S2140E;D7S2630;GDB:1318018;SHGC-147284;SHGC-172651;SHGC-32552;SHGC-79851 CAM2;CAMK2;CAMKB;MGC29528 CaM kinase II beta subunit;CaM-kinase II beta chain;OTTHUMP00000025109;OTTHUMP00000159355;OTTHUMP00000159356;OTTHUMP00000159440;OTTHUMP00000159441;OTTHUMP00000159442;OTTHUMP00000159443;OTTHUMP00000209343;OTTHUMP00000209344;OTTHUMP00000214130;OTTHUMP00000225913;caM kinase II subunit beta;caMK-II subunit beta;calcium/calmodulin-dependent protein kinase (CaM kinase) II beta;calcium/calmodulin-dependent protein kinase ii beta subunit;calcium/calmodulin-dependent protein kinase type II beta chain;calcium/calmodulin-dependent protein kinase type II subunit beta;proline rich calmodulin-dependent protein kinase APPROVED protein-coding ENSG00000058404 HGNC:1461 12127 607707 REVIEWED 732268 CAMK2N2 calcium/calmodulin-dependent protein kinase II inhibitor 2 This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008] 3 3 3 q27.1 182417767 182420015 - 183977003 183979251 - 184259215 184261463 - 6480464;7240706;7240707 21070840;21301225 11444830;12477932;12531901;19586909;20487031;22087225;22472876;23153928;23545117;9724800 94032 Q96S95 ABBA01058450;ABBA01058451;AC061705;AC078797;AMYH02008305;AY037149;BC105077;BC105079;CH471052;NM_033259 AAI05078;AAI05080;AAK67630;EAW78280;EAW78281;NP_150284;Q96S95 Hs.585003 2112582;2169422;5493297;5493941 D3S4350;RH12612;UniSTS:480474;UniSTS:485633 CAM-KIIN;CAMKIIN CaM-KII inhibitory protein;OTTHUMP00000210693 APPROVED protein-coding ENSG00000163888 HGNC:24197 16377 608721 REVIEWED 1604851 CAMK2G calcium/calmodulin-dependent protein kinase II gamma The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011] 10 10 10 q22 68855429 68917528 - 75572259 75634349 - 73812501 73874591 - 6480464;6484113;6907045;7240705 22717267 10212259;10347170;10366608;10373510;10625670;10693762;10748018;10860555;11013247;11027280;11080189;11108966;11160423;11264466;11290523;11325525;11359875;11398101;11535587;11559703;11825621;11839738;11889801;11972023;12032636;12477932;12486117;12554746;12609872;12637327;12808093;12815021;1309762;14532276;14622581;14702039;14722083;14963018;15164054;15294044;15322115;15775983;16002660;16120608;16385451;16436603;17032905;17081983;17192257;17373700;17431504;17553505;17568776;18218981;18311135;18434368;18483256;18781797;19001023;19204726;19603549;19615732;19671701;19682070;19840793;19913121;19946888;20060891;20139089;20149311;20628086;20851109;21063097;21139048;21145461;21513986;2160950;21906983;21983898;22049206;22371496;22505724;22592532;22612808;22615928;22623531;22939624;22952977;23000965;23008441;23074277;23463379;23502535;23516528;23543616;23960096;24100685;24189456;24269630;24654937;3118371;6150037;7543024;7557101;7690989;7876254;7877986;8125298;8287681;8380342;8404858;8449910;8615909;8663317;8665664;8798667;9060999;9115241;9224693;9240463;9355737;9407043;9481670;9670010;9677319;9721757;9768837 818 B4DVQ3;H0Y6G2;Q13280;Q13555;Q5SWX3;Q8WU40 AB209474;ABBA01020305;ABBA01020306;ABBA01020307;ABBA01020308;AC022400;AK026309;AK094774;AK095576;AK131199;AK225771;AK291704;AK301180;AL596247;AL713896;AMYH02023339;AMYH02023340;BC012795;BC021269;BC034044;BC037928;BU165166;CH471083;KF455257;L07043;L07044;NG_029408;NM_001204492;NM_001222;NM_172169;NM_172170;NM_172171;NM_172173;U32472;U32473;U32509;U50359;U50360;U66063;U66064;XM_005270195;XM_005270197;XM_005270198;XM_005270199;XM_005270200;XM_005270201;XM_005270202;XM_005270203;XM_005270205;XM_006717993;XM_006717994;XM_006717995;XM_006717996;XM_006717997;XM_006717998;XM_006717999;XM_006718000 AAA75201;AAA75202;AAA75203;AAB16864;AAB16865;AAB61379;AAB80847;AAB80848;AAH21269;AAH34044;ABM83291;ABM86500;ABM87691;BAD92711;BAF84393;BAG53089;BAG54748;BAG62765;EAW54527;EAW54528;EAW54529;EAW54530;EAW54531;EAW54532;EAW54533;EAW54534;EAW54535;EAW54536;EAW54537;EAW54538;EAW54539;EAW54540;EAW54541;EAW54542;EAW54543;NP_001191421;NP_001213;NP_751909;NP_751910;NP_751911;NP_751913;Q13555;XP_005270252;XP_005270254;XP_005270255;XP_005270256;XP_005270257;XP_005270258;XP_005270259;XP_005270260;XP_005270262;XP_006718056;XP_006718057;XP_006718058;XP_006718059;XP_006718060;XP_006718061;XP_006718062;XP_006718063 Hs.523045 1338862;1672432;1696568;1758631;1758633;1781890;2111055;5014051;5021872;5022200;5022578;5022651;5037552;5109281;5118444 D10S1737;D10S483E;D11S2921;D11S3316;D1S1423;D1S1425;D8S2278;D8S2279;L18426;SHGC-106444;SHGC-148964;SHGC-148965;SHGC-78184;WI-12185;sY3084 CAMK;CAMK-II;CAMKG;FLJ16043;MGC26678 OTTHUMP00000019843;OTTHUMP00000019844;OTTHUMP00000019845;OTTHUMP00000019846;OTTHUMP00000019847;caM kinase II subunit gamma;caMK-II subunit gamma;calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma;calcium/calmodulin-dependent protein kinase type II subunit gamma APPROVED protein-coding ENSG00000148660 HGNC:1463 03672 602123 REVIEWED 1349409 CAMKK1 calcium/calmodulin-dependent protein kinase kinase 1, alpha The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p13.2 3775420 3808149 - 3763609 3796337 - 3860315 3894242 - 1580863;2311420;6480464;8554872 16054095 10187789;10560916;10833263;11230166;11574070;12477932;12628440;12935886;15324660;15489334;15591024;16741161;18242179;18270593;18695047;19247474;19294699;19520843;20106900;20453000;21832049;22939624;23444366;23737288;24255178;7615569;7642608;8621423;9705275 84254 J3KPJ3;Q8N5S9 ABBA01054749;ABBA01054750;AC005940;AF370377;AF425232;AF425301;AK128601;AL136576;AMYH02032808;AMYH02032809;BC011401;BC031647;BC043487;CH471108;NM_032294;NM_172206;NM_172207;XM_005256817;XM_005256819;XM_005256820;XM_006721588;XR_243569 AAH31647;AAH43487;AAN37386;AAN37387;AAQ15213;ABM83347;ABM86561;CAB66511;EAW90474;EAW90475;EAW90476;NP_115670;NP_757343;NP_757344;Q8N5S9;XP_005256874;XP_005256876;XP_005256877;XP_006721651 Hs.8417 1717761;2170149;2170151;2175956;5014051;5015619;5016478;5021872;5022463;5022651;5037552;5092454 A005P11;D11S2921;D11S3114;D3S1673;D8S2278;D8S2279;G20392;G54292;GDB:434012;RH121788;SHGC-32989;sY3084 DKFZp761M0423;MGC34095;caM-KK 1;caMKK 1 CAMKK alpha protein;CAMKKA;OTTHUMP00000115903;OTTHUMP00000115904;OTTHUMP00000115905;caM-KK alpha;caM-kinase IV kinase;caM-kinase kinase 1;caM-kinase kinase alpha;calcium/calmodulin-dependent protein kinase kinase 1;calcium/calmodulin-dependent protein kinase kinase alpha APPROVED protein-coding ENSG00000004660 HGNC:1469 13000 611411 REVIEWED 737324 CAMKK2 calcium/calmodulin-dependent protein kinase kinase 2, beta The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012] 12 12 12 q24.2 121313250 121374183 - 121675495 121736111 - 121237692 121298308 - 2311420;6480464;6484113;8554872 16054095 10187789;11395482;12168954;12477932;12628440;12935886;15489334;16054096;16247765;16344560;16673375;16880506;17043677;17197037;18029348;18436530;18976975;19407487;19667195;19763792;19953087;19958286;20018878;20379614;20562859;21084482;21669867;21670147;21807092;21832049;21890473;21906983;21957496;22654108;22778263;22939624;23027865;23110126;23465592;23754392;9662074;9822657;9872452 10645 F5GZ00;F5H360;F5H4I7;Q96RR4 AA678930;AB018330;AB081336;AB081337;ABBA01020153;ABBA01020154;ABBA01020155;ABBA01020156;ABBA01020157;AC069209;AF091074;AF101264;AF140507;AF287630;AF287631;AF321385;AF321386;AF321387;AF321388;AF321389;AF321401;AF321402;AF425668;AI612762;AK024748;AK292072;AK300865;AL834322;AMYH02027393;BC000318;BC026060;BF972593;CH471054;DA075361;NG_029409;NM_001270485;NM_001270486;NM_006549;NM_153499;NM_153500;NM_172214;NM_172215;NM_172216;NM_172226;U87803;XM_005253822;XM_005253823;XM_005253824 AAC72943;AAD04566;AAD31507;AAH00318;AAH26060;AAK64600;AAK64601;AAK91829;AAK91830;AAL37215;AAL37216;AAL37217;AAL37218;AAN37388;ABM84336;ABM87784;BAA34507;BAC19840;BAC19841;BAF84761;BAG62514;CAD38990;EAW98247;EAW98248;EAW98249;EAW98250;EAW98251;EAW98252;EAW98253;EAW98254;EAW98255;EAW98256;EAW98257;EAW98258;NP_001257414;NP_001257415;NP_006540;NP_705719;NP_705720;NP_757363;NP_757364;NP_757365;NP_757380;Q96RR4;XP_005253879;XP_005253880;XP_005253881 Hs.297343 1653567;1736296;1746515;1746563;1768650;1848161;1848163;2106817;2106819;2106821;2106823;2106825;2165736;2170322;2174688;5022578 A001Z45;D12S1241E;D1S1423;G19833;G64570;G64571;HSC2OG072;PG2S01;PG2S02;PG2S09;PG2S15;PG2S5UT01;RH11188;RH11255;SGC32416;WI-15135 CAMKK;CAMKKB;KIAA0787;MGC15254 CAMKK beta protein;OTTHUMP00000240235;OTTHUMP00000240236;OTTHUMP00000240237;OTTHUMP00000240238;OTTHUMP00000240239;OTTHUMP00000240241;OTTHUMP00000240242;OTTHUMP00000240244;OTTHUMP00000240245;ca+/calmodulin-dependent protein kinase kinase beta (cam-kinase kinase beta);caM-KK 2;caM-KK beta;caM-kinase kinase 2;caM-kinase kinase beta;caMKK 2;calcium/calmodulin-dependent protein kinase beta;calcium/calmodulin-dependent protein kinase kinase 2;calcium/calmodulin-dependent protein kinase kinase beta APPROVED protein-coding ENSG00000110931 HGNC:1470 06467 615002 REVIEWED 1604302 CAMKV CaM kinase-like vesicle-associated ENCODES a protein that exhibits ATP binding (inferred); calmodulin binding (inferred); protein kinase activity (inferred); INVOLVED IN metabolic process (inferred); protein phosphorylation (inferred); FOUND IN cytoplasmic vesicle (inferred); plasma membrane (inferred); INTERACTS WITH all-trans-retinoic acid; N-nitrosodiethylamine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 p21.31 49861230 49873180 - 49895414 49907655 - 49857981 49869955 - 6480464 11230166;11256614;12477932;14702039;15345747;15489334;16169070;18029348;19367581;21145461;21832049;21906983;22939624;8283228 79012 B4DM24;B4DSW8;C9J9E2;C9JSB2;E7ETR1;F8WDJ4;Q8NCB2 ABBA01024571;AC105935;AC139451;AK074856;AK074899;AK075294;AK226073;AK295588;AK297258;AK297437;AK299953;AK315525;AL136697;AL833943;AL834461;AMYH02006760;BC000497;BC001921;BC005828;BC017363;BC019256;BC033374;BX647074;CH471055;CQ782867;CR533508;NM_024046;XM_005265478 AAH00497;AAH01921;AAH05828;AAH17363;AAH19256;ABM82330;ABM87818;BAC11248;BAC11278;BAC11528;BAG37906;BAG58480;BAG59736;BAG59864;BAG61780;CAB66632;CAD38798;CAF86095;CAG38539;EAW65027;EAW65028;EAW65029;EAW65030;EAW65031;EAW65032;EAW65033;EAW65034;NP_076951;Q8NCB2;XP_005265535 Hs.145156 1665869;1672186;2147079 1810;RH11809;WI-15318 1G5;MGC8407 OTTHUMP00000212743;OTTHUMP00000212744;OTTHUMP00000212745;OTTHUMP00000212746;OTTHUMP00000212747;OTTHUMP00000212766;VACAMKL;caM kinase-like vesicle-associated protein;vesicle-associated calmodulin-binding protein protein-coding ENSG00000164076 HGNC:28788 11361 614993 VALIDATED 731356 CAMK4 calcium/calmodulin-dependent protein kinase IV The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008] 5 5 5 q21.3 106506012 106766350 + 110559947 110830584 + 111224249 111485051 + 734683;1580863;734684;6480464;6907045;8554872 10932193;11572782 10400690;10617605;10681496;10874031;11274168;11395482;11470791;11970865;12065094;12477932;12630910;1375933;14701808;15143065;15489334;15591024;15665723;15680915;15840651;15841182;15902271;16344560;17192257;17903302;17909078;18029348;18053176;18606955;18660489;18829949;18930438;19001277;19017650;19056867;19100722;19386606;19436069;19506079;19538941;19633294;19953087;2011593;20171262;20378615;20379614;20677014;21139048;21514275;21612516;22897820;22939624;23049845;23103515;23535033;23817569;23817571;24024966;24442360;24667640;24816145;2536634;7615569;8089075;8107230;8194751;8621423;8702940;8855261;9154845;9705275;9822657 814 D6RCD6;D6RE65;D6REY7;Q16566 ABBA01069071;AC010275;AC010468;AC011422;AK311662;AK312840;AL833368;AMYH02011965;AMYH02011966;AMYH02011967;AMYH02011968;AMYH02011969;AMYH02011970;BC016695;BC025687;BG721313;CH471086;D30742;DA396146;L17000;L24959;NM_001744 AAA18251;AAA35639;AAH16695;AAH25687;ABM83828;ABM84121;ABM84122;ABM87522;ABM87523;ABM87524;ABM87525;BAA06403;BAG35694;EAW49032;EAW49033;EAW49034;NP_001735;Q16566 Hs.591269 1646776;1647015;1665321;1717151;1739057;1739061;1739069;1750835;1754827;1772136;2107907;2147714;2170330 CAMK4_8239;D5S1778;D5S1780;D5S1785;D5S2448;RH11450;RH121498;RH36049;RH36499;RH69019;SGC35247;SHGC-104500;SHGC-141749 CaMK IV;CaMK-GR;IV;MGC36771;caMK CAM kinase IV;CAM kinase- GR;OTTHUMP00000159000;OTTHUMP00000222818;brain Ca(2+)-calmodulin-dependent protein kinase type IV;brain Ca++-calmodulin-dependent protein kinase type IV;caM kinase-GR;calcium/calmodulin-dependent protein kinase type IV;calcium/calmodulin-dependent protein kinase type IV catalytic chain APPROVED protein-coding HGNC:1464 07169 114080 REVIEWED 1347931 CAMLG calcium modulating ligand The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008] 5 5 5 q23 130200576 130214217 + 134074170 134087850 + 134738480 134752160 + 1580863;2316229;6480464 12031912 10880535;11006089;12388711;12477932;12919676;15451437;15668245;16243292;16344560;18391951;19135167;19946888;20126395;20485444;20553626;20582322;20676093;21128111;21139048;21906983;22281498;23041287;23266901;23879967;7522304;8824814;9311921;9632697 819 D6RIW3;P49069 ABBA01068746;ABBA01068747;ABBA01068748;AC010301;AF068179;AK313156;AMYH02012251;BC063532;BC130325;BG720084;BX111055;CH471062;DA727548;NM_001745;U18242 AAA59420;AAC23596;AAI30326;ADR82926;BAG35974;EAW62243;EAW62244;NP_001736;P49069 Hs.529846 1674906;1700284;1793358;1848328;2218334;5015961;5022322 CAMLG_4499;D11S2560;D15S1477;PMC212802P1;RH103760;SGC30209;SHGC-32215 CAML;MGC163197 OTTHUMP00000159378;OTTHUMP00000223128;calcium signal-modulating cyclophilin ligand;calcium-modulating cyclophilin ligand;calcium-signal modulating cyclophilin ligand;cyclophilin B-binding protein APPROVED protein-coding ENSG00000164615 HGNC:1471 03073 601118 REVIEWED 1605634 CAMKMT calmodulin-lysine N-methyltransferase This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012] 2 2 2 p21 44427993 44838447 + 44589043 44999731 + 44361904 44772592 + 6480464;8554872 12477932;16344560;17207965;18234729;19322201;19575798;20200953;20379614;20881960;20975703;21832049;22610502;23285036;23349634;23794250;24025145 79823 B5MC16;B5MC79;D6W5A4;H7C2N4;H7C2T0;H7C3B0;Q7Z624 ABBA01075107;ABBA01075108;ABBA01075109;ABBA01075110;ABBA01075111;ABBA01075112;ABBA01075113;ABBA01075114;ABBA01075115;ABBA01075116;AC012455;AC016703;AC019184;AC067957;AI933944;AK027104;AMYH02003707;AMYH02003708;AMYH02003709;AMYH02003710;AMYH02003711;AMYH02003712;BC029359;BC053733;CH471053;DA760277;DB461740;NG_032944;NM_024766;XM_005264567 AAH29359;AAH53733;AAX88866;AAX93163;ADQ32074;BAB15658;EAX00272;EAX00273;EAX00274;NP_079042;Q7Z624;XP_005264624 Hs.468349 1664466;1668498;1672490;1705402;1705580;1707088;1708566;1711254;1726917;1727743;1734214;1734216;1734218;1789560;1856133;2114677;2137644;2158280;2160949;2164561;2185891;5019837;5093742 A009V46;A010A13;AFM210XE9;D2S1485;D2S1486;D2S1487;D2S1830;D2S4016;G32897;G33043;G62702;G63136;RH10992;RH16227;RH47074;RH69636;SHGC-10607;SHGC-81302;SHGC-83564;SHGC-83898;SHGC-84990;SHGC-85069;WI-18144 C2orf34;CLNMT;CaM KMT;Cam;FLJ23451;KMT OTTHUMP00000158959;calmodulin methyltransferase;hypothetical protein LOC79823 APPROVED protein-coding ENSG00000143919 HGNC:26276 08028 609559 REVIEWED 736174 CAMK2D calcium/calmodulin-dependent protein kinase II delta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008] 4 4 4 q26 111663868 111974821 - 114372188 114683669 - 113451032 113761927 - 1580863;6480464;6484113;6907045;6907065;7240705;7240708;8554872 20638246;22717267;23091085 10189359;10373510;10525155;10819240;10852918;11013247;11264466;11889801;11972023;12145273;12477932;12676813;12676814;12815021;14622581;14702039;14722083;15345747;15489334;16120608;16185778;16344560;16436603;16767219;17081983;17157285;17179159;17192257;17353931;17620599;18218981;18311135;18457437;18832449;19132087;19482609;19615732;19946888;20332099;20379614;20442409;20668654;20814023;21139048;21150319;21447778;21491429;21890473;21906983;21988832;22270398;22623531;22939624;23000965;23218918;23283722;23443559;23602568;24030498;24196533;24292274;24302721;24654937;8404858;8615909;8665664;9060999;9115241;9165051;9481670;9692886;9847074 817 D6R938;E9PBG7;E9PF82;H0Y9C2;H0Y9J2;Q13557 AB209288;ABBA01063833;ABBA01063834;AC004056;AC004168;AC093900;AC107386;AF071569;AI004608;AI057019;AJ252239;AK025368;AK055642;AK294517;AL120285;AMYH02009949;AMYH02009950;AY987011;BC022558;BC032784;BX538071;BX647363;CA416772;CF551834;CH471057;DA113081;EF139846;NM_001221;NM_172114;NM_172115;NM_172127;NM_172128;NM_172129;U50361;U73738;XM_005263251;XM_005263252;XM_005263253;XM_005263254;XM_005263255;XM_005263256;XM_005263257;XM_005263258;XM_005263260;XM_005263261;XM_006714329;XM_006714330 AAB16866;AAB18327;AAD20442;AAH22558;AAH32784;AAX88806;ABM86181;ABW03692;BAD92525;BAG51545;BAH11796;CAB65123;EAX06295;EAX06296;EAX06297;EAX06298;EAX06299;EAX06300;EAX06301;NP_001212;NP_742112;NP_742113;NP_742125;NP_742126;NP_742127;Q13557;XP_005263308;XP_005263309;XP_005263310;XP_005263311;XP_005263312;XP_005263313;XP_005263314;XP_005263315;XP_005263317;XP_005263318;XP_006714392;XP_006714393 Hs.144114 1338395;1643907;1646019;1646021;1663537;1667157;1674157;1675692;1682772;1715021;1735404;1848827;1850468;1857648;2111143;2117910;2123851;2125003;2128949;2135719;2141589;2145774;2156343;2179941;2187384;5093620;5094022;5494159;7187551 A009S43;A010A47;D4S1366;D4S1497E;D4S1611;D4S2577E;D4S3165;D4S3167;D4S448;D4S967;EST02144;G32826;G33061;RH120847;SHGC-23829;SHGC-23830;SHGC-24808;SHGC-30317;SHGC-30731;SHGC-50558;SHGC-50970;SHGC-58101;SHGC-67300;SHGC-8542;SHGC-8607;STS-H54295;STS-R98767;fb62d09.x1 CAMKD;DKFZp686G23119;DKFZp686I2288;MGC44911 CaM kinase II delta subunit;CaM-kinase II delta chain;CaMK-II delta subunit;OTTHUMP00000163829;OTTHUMP00000163830;OTTHUMP00000163831;OTTHUMP00000220381;OTTHUMP00000220382;OTTHUMP00000220383;OTTHUMP00000220385;OTTHUMP00000220386;OTTHUMP00000220389;caM kinase II subunit delta;caMK-II subunit delta;calcium/calmodulin-dependent protein kinase (CaM kinase) II delta;calcium/calmodulin-dependent protein kinase ii, delta;calcium/calmodulin-dependent protein kinase type II delta chain;calcium/calmodulin-dependent protein kinase type II subunit delta APPROVED protein-coding ENSG00000145349 HGNC:1462 09653 607708 REVIEWED 1321992 CAMSAP1 calmodulin regulated spectrin-associated protein 1 ENCODES a protein that exhibits microtubule binding; spectrin binding; calmodulin binding (ortholog); INVOLVED IN cytoskeleton organization; neuron projection development; regulation of cell morphogenesis; ASSOCIATED WITH Melanoma (inferred); FOUND IN microtubule; INTERACTS WITH 17beta-estradiol; 2-methylcholine; arsenite(3-) 9 9 9 q34.3 109218269 109316951 - 138700333 138799060 - 135808487 135907214 - 737633;6480464;8554872 12477932 14702039;15231748;19508979;21890473;24706919 157922 Q5T5Y3;Q9P1D5 ABBA01030047;ABBA01030048;AF116701;AJ420438;AJ519841;AK025533;AK055790;AL117634;AL158822;AL353636;AL355574;AL834528;AMYH02021883;AMYH02021884;AMYH02021885;AW448941;BC010646;BC012778;BC040549;BC130580;BC144082;BU949503;CH471090;NM_015447;XM_005263396;XM_005263397 AAF71121;AAH10646;AAH12778;AAI30581;AAI44083;CAB56024;CAD39184;CAD58627;EAW88183;EAW88184;EAW88185;EAW88186;NP_056262;Q5T5Y3;XP_005263453;XP_005263454 Hs.522493 1662017;1668288;1735900;1735914;1775683;1786890;1787130;2114573;2116049;2125177;2137593;2157856;2158180;2181995;2181997 A004G46;A005O30;D9S1042E;D9S1053E;D9S1146;G20380;RH18182;RH70341;RH78822;SGC30172;SHGC-101598;SHGC-155357;SHGC-36022;STS-R16148;WI-20957 DKFZp434F195;DKFZp434G2311;FLJ31228;MGC163452;PRO2405;RP11-100C15.2;bA100C15.1 OTTHUMP00000022559;OTTHUMP00000202115;OTTHUMP00000202116;bA100C15.1 (novel protein);calmodulin-regulated spectrin-associated protein 1 protein-coding ENSG00000130559 HGNC:19946 13001 613774 VALIDATED 6481052 CAMTA1-IT1 CAMTA1 intronic transcript 1 (non-protein coding) p36.23 100874340 AA884076;Z97987 Hs.733842 ncrna HGNC:41446 1343513 CAMP cathelicidin antimicrobial peptide This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. In addition to its antibacterial, antifungal, and antiviral activities, the encoded protein functions in cell chemotaxis, immune mediator induction, and inflammatory response regulation. [provided by RefSeq, Sep 2014] 3 3 3 p21.3 48215428 48217541 + 48264837 48266981 + 48223347 48225491 + 1580863;2316243;2316237;6480464;6907045;8554872 17142779;19879657 10225921;10858248;11015447;11049988;11238224;11389039;11544322;11753073;11796631;11972628;12101274;12244186;12351523;12366839;12375270;12445197;12454100;12477932;12578451;12603850;12612195;12625579;12713586;12759353;12767238;12782669;12860195;14561157;14978112;15004180;15067080;15222757;15322010;15364108;15489334;15500911;15531744;15591123;15609314;15645239;15661923;15675959;15717688;15778390;15778507;15864780;15953032;16034119;16177113;16177355;16236890;16456005;16493063;16497887;16630942;16645154;16750994;16751768;16764694;16926414;16998135;17012259;17015740;17041145;17181861;17207965;17400609;17621825;17627504;17675463;17676051;17709140;17764778;17805349;17873860;17882905;17922409;17943182;17960624;18059019;18166145;18200058;18258235;18490458;18579695;18657865;18703682;18717821;18765670;18818205;18936485;19014773;19056867;19133797;19166322;19183447;19234121;19245866;19263072;19265148;19346112;19389235;19390494;19527294;19531482;19542465;19625657;19645825;19703986;19750480;19800862;19808939;19812202;19894716;19949065;20042575;20054823;20090765;20097832;20140902;20190140;20375583;20556966;20600427;20610648;20624254;20646232;20653851;20661475;20685090;20849904;20970965;21179490;21211790;21463582;21470491;21518024;21529380;21562016;21685939;21713010;21732986;21790937;21832078;21850017;21858032;21988832;22023339;22036268;22039520;22069323;22095714;22184422;22246800;22336091;22516952;22674298;22695798;22759465;22781454;22815956;22841393;22901663;22927244;22943069;23038277;23045480;23052388;23095809;23100468;23142587;23217559;23241112;23246832;23267025;23274176;23283724;23328115;23332157;23383108;23406372;23406612;23424670;23452544;23499548;23760318;23766266;23834289;23953711;24117320;24286516;24291709;24383796;24454930;24666281;24736410;24771854;24821067;7529412;7615076;7624374;7890387;8681941;8946956;9182550;9689116 820 J3KNB4;P49913 AA635187;ABBA01024653;AC104190;AMYH02006713;AY162210;AY251531;BC055089;BU074012;CH471055;CR457083;CR541961;GM949500;NM_004345;U19970;U48795;X89658;X96735;Z38026 AAA74084;AAC02634;AAH55089;AAN78318;AAP20054;ADQ32148;CAA61805;CAA86115;CAG33364;CAG46759;CAV11903;EAW64854;NP_004336;P49913 Hs.51120 2147727 SHGC-76929 CAP-18;CAP18;CRAMP;FALL-39;FALL39;HSD26;LL37;hCAP-18 18 kDa cationic antimicrobial protein;OTTHUMP00000164805 APPROVED protein-coding ENSG00000164047 HGNC:1472 02722 600474 REVIEWED 1318785 CAMTA1 calmodulin binding transcription activator 1 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Anteverted nares (inferred); Autosomal dominant inheritance (inferred); Bulbous nose (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 1 1 1 p36.31-p36.23 5960132 6937492 + 6845384 7829766 + 6785324 7769706 + 1580863;6480464;8699517;7240710;8554872 10048485;11925432;12168954;12477932;12964007;15138581;15174051;15709179;16710414;17222547;17470457;18029348;18210030;19336475;19851296;19913121;20125193;20198315;20379614;20628086;21385898;21584898;21857646;21951953;22429593;22693284;22699663;23000965;23362303;24324551 23261 G3V297;H0YJG5;H0YJK7;H0YJR7;H0YJV1;H0YJY7;Q9Y6Y1 AA757826;AB020640;ABBA01035467;ABBA01035468;ABBA01035469;ABBA01035470;ABBA01035471;ABBA01035472;ABBA01035473;ABBA01035474;ABBA01035475;ABBA01035476;ABBA01035477;ABBA01035478;ABBA01035479;ABBA01035480;ABBA01035481;ABBA01035482;ABBA01035483;ABBA01035484;ABBA01035485;ABBA01035486;ABBA01035487;ABBA01035488;ABBA01035489;AF086286;AF111804;AI278074;AK302088;AK309727;AL157716;AL359881;AL365194;AL512330;AL590128;AL596210;AL683812;AMYH02000185;AMYH02000186;AMYH02000187;AMYH02000188;AMYH02000189;AMYH02000190;AMYH02000191;AMYH02000192;AMYH02000193;AMYH02000194;AMYH02000195;AMYH02000196;AW956937;AY037153;AY349360;BC038183;BC051341;BC116457;BC151835;BG027385;BM470492;CD103791;KF495826;KF495853;KF495855;KF510205;KF510731;NM_001195563;NM_001242701;NM_015215;NR_038934;XM_006710482;XM_006710483;XM_006710484;Z97635;Z97987;Z98052;Z98884 AAH51341;AAI16458;AAI51836;AAK67633;AAL39006;AAQ56724;BAA74856;BAG63475;NP_001182492;NP_001229630;NP_056030;Q9Y6Y1;XP_006710545;XP_006710546;XP_006710547 Hs.397705;Hs.671020 1298152;1338235;1338668;1338882;1338999;1339362;1339510;1339969;1655606;1670884;1672909;1686626;1691948;1692978;1695246;1695380;1698848;1706214;1711156;1732701;1732870;1732886;1732990;1733046;1733050;1740583;1740585;1754467;1759483;1762921;1765719;1781480;1781768;1788952;1849830;2113506;2118305;2120955;2125405;2137834;2145904;2163221;2173633;5015147;7187931 AL009308;AL009326;AL009713;AL009845;AL033595;AL034206;BZ907149;D1S113;D1S1192;D1S1297;D1S1306;D1S1365;D1S1398;D1S1400;D1S1646;D1S214;D1S2586;D1S2642;D1S2663;D1S2666;D1S2694;D1S508;D1S548;D1S95;G06229;G16217;G65551;RH102988;RH44468;RH98600;SHGC-132293;SHGC-132739;SHGC-146676;SHGC-149152;SHGC-150713;SHGC-152712;SHGC-155570;SHGC-31020;SHGC-62954;SHGC-68426;SHGC-74143;SHGC-74163;SHGC-80636;SHGC-85316 CANPMR;KIAA0833 OTTHUMP00000001352;OTTHUMP00000244035;OTTHUMP00000244036;OTTHUMP00000244038;calmodulin-binding transcription activator 1 protein-coding ENSG00000171735 HGNC:18806 16681 611501;614756 VALIDATED 1346126 CANDN1 candidiasis, nail 1 (with ICAM1 deficiency) ASSOCIATED WITH Candidiasis, Familial, 3 (inferred) 7240710 12205111;12774035 338434 HGNC:20683 607644 1604039 CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 ENCODES a protein that exhibits microtubule minus-end binding; INVOLVED IN microtubule cytoskeleton organization; regulation of organelle organization; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene diol epoxide I 1 1 1 q32.1 173831311 173953903 + 200708686 200829832 + 200739558 200860704 + 6480464;8554872 10470851;12107410;12477932;14702039;15345747;15561718;15897902;16713569;19322201;19508979;20195357;21139048;22116939;24148305;24706919;24908486 23271 B3KTI4;H0Y4Z1;H0YE13;Q08AD1 AA625716;AB029001;ABBA01027542;ABBA01027543;ABBA01027544;ABBA01027545;ABBA01027546;AF087998;AK026348;AK095640;AK126821;AL110158;AL450104;AMYH02002472;AMYH02002473;AMYH02002474;BC011385;BC029449;BC045721;BC056910;BC065508;BC125229;BC125230;CA388618;CH471067;H14341;NM_001297707;NM_001297708;NM_203459;XM_005245040;XM_005245041;XM_005245042 AAH11385;AAH56910;AAI25230;AAI25231;BAA83030;BAG53096;BAG54376;CAB53664;EAW91320;EAW91321;NP_001284636;NP_001284637;NP_982284;Q08AD1;XP_005245097;XP_005245098;XP_005245099 Hs.23585 1675461;1696910;1709560;2114213;2155623;2167056;2172375 RH101923;RH92112;SHGC-33046;SHGC-76118;SHGC-76122;SHGC-76143;SHGC-81869 CAMSAP1L1;KIAA1078;MGC150680;MGC150681;RP11-93N17.1 OTTHUMP00000033885;OTTHUMP00000033922;OTTHUMP00000038644;calmodulin regulated spectrin-associated protein 1-like 1;calmodulin-regulated spectrin-associated protein 1-like protein 1;calmodulin-regulated spectrin-associated protein 2 APPROVED protein-coding ENSG00000118200 HGNC:29188 11124 613775 VALIDATED 1316325 CAMSAP3 calmodulin regulated spectrin-associated protein family, member 3 ENCODES a protein that exhibits microtubule minus-end binding; INVOLVED IN epithelial cell-cell adhesion; microtubule anchoring; microtubule cytoskeleton organization; PARTICIPATES IN E-cadherin signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; cytoplasm; zonula adherens; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cyclosporin A 19 19 19 p13.2 7533272 7554380 + 7660774 7683196 + 7595888 7618310 + 6480464;6484113;8554872 10819331;11318610;12477932;15302935;15489334;16169070;16964243;19041742;19041755;19389623;19508979;21900206;23084401;8889548 57662 D6W648;Q8WZ12;Q9P1Y5 AB040976;ABBA01010894;ABBA01010895;ABBA01010896;ABBA01010897;ABBA01010898;AC008763;AF289580;AL833927;AMYH02035400;AMYH02035401;AMYH02035402;AMYH02035403;BC020431;BC035808;BC036935;BC064490;BC128201;BC128202;BU733578;CH471139;NM_001080429;NM_020902;XM_005272491;XM_006722806 AAI28202;AAI28203;AAL55764;BAA96067;CAD38783;EAW69025;EAW69026;EAW69027;EAW69028;NP_001073898;NP_065953;Q9P1Y5;XP_005272548;XP_006722869 Hs.17686 1334745;1336406;1851658;2111097;2137045 D19S388E;D19S76;D19S905;RH47063;SGC33793 KIAA1543;PPP1R80 NEZHA;calmodulin-regulated spectrin-associated protein 3 APPROVED protein-coding ENSG00000076826 HGNC:29307 612685 VALIDATED 1322678 CAMTA2 calmodulin binding transcription activator 2 The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010] 17 17 17 p13.2 4886098 4905775 - 4871287 4890960 - 4967992 4987673 - 1580863;6480464 10048485;11925432;12477932;15489334;16344560;16678087;16678093;17046230;17689537 23125 B7ZM30;I3L146;I3L2A1;I3L3V0;I3L3W6;O94983 AB020716;ABBA01054785;ABBA01054786;ABBA01054787;AC004771;AK302528;AK307947;AK308666;AL831849;AL833974;AMYH02032838;BC010050;BC016163;BC032381;BC136534;BC142606;BC142695;BC144232;BC167148;BC167149;BC167151;BC167160;BI548947;DB275145;NM_001171166;NM_001171167;NM_001171168;NM_015099;XM_006721478;XM_006721479;XM_006721480;XM_006721481;XM_006721482 AAH10050;AAH16163;AAH32381;AAI36535;AAI42696;AAI44233;AAI67148;AAI67149;AAI67151;AAI67160;ACE86799;ACE87486;BAA74932;BAG63801;CAD38553;CAD38818;NP_001164637;NP_001164638;NP_001164639;NP_055914;O94983;XP_006721541;XP_006721542;XP_006721543;XP_006721544;XP_006721545 Hs.632242 1698914;2218746;5022921;5491256 CAMTA2__4500;MARC_6523-6524:992007271:1;RH103026;ksks155 KIAA0909 OTTHUMP00000125265;calmodulin-binding transcription activator 2 APPROVED protein-coding ENSG00000108509 HGNC:18807 13002 611508 VALIDATED 733696 CAND1 cullin-associated and neddylation-dissociated 1 ENCODES a protein that exhibits TBP-class protein binding (inferred); INVOLVED IN cell differentiation; negative regulation of catalytic activity; protein ubiquitination; PARTICIPATES IN neddylation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cullin-RING ubiquitin ligase complex; cytoplasm; extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; formaldehyde 12 12 12 q14 67327070 67372407 + 67663061 67708388 + 67269281 67314608 + 1559298;6480464;8554872 15209382 10048485;10581176;10931946;11230166;11278995;12207886;12477932;12504025;12504026;12609982;12684064;12706828;14702039;15208391;15448697;15489334;15537541;16036220;16303743;16344560;16861300;16964240;17079684;17110338;17438373;17439941;17643375;18173839;18606781;18781797;18826954;19056867;19193609;19295130;19454010;19596686;19615732;19668339;19738201;19946888;20473970;20562859;20820187;21081666;21139048;21145461;21149631;21169563;21249194;21252943;21319273;21778237;21890473;21906983;22013077;22032989;22053931;22261722;22360420;22405651;22474075;22767593;22863883;22902628;22990118;23000965;23019411;23022380;23181366;23328082;23453757;23602568;23862649;24192928;24337577;24816145;25027693;8954946 55832 F5H6I6;H0YH27;Q86VP6 AB020636;ABBA01026566;ABBA01026567;AC012518;AC078983;AF157326;AK000976;AK001791;AK027404;AK027783;AK074922;AK096010;AK129780;AK292456;AK314358;AL133560;AL136810;AL833880;AMYH02026689;BC004232;BC026220;BC050341;CH471054;DB064887;DB098973;NM_018448 AAF67492;AAH04232;AAH26220;AAH50341;ACE86847;ACE87534;BAA74852;BAB55090;BAB55365;BAF85145;BAG36990;BAG50842;BAG50975;CAB63714;CAB66744;CAD38737;EAW97171;EAW97172;NP_060918;Q86VP6 Hs.546407 1686140;1713925;1746735;1849539;1851984;2126610;2139099;2183899 D12S868;G64814;RH11001;RH119392;RH80154;STS-N47220;WI-12457;WI-13881 DKFZp434M1414;FLJ10114;FLJ10929;FLJ38691;FLJ90441;KIAA0829;TIP120;TIP120A OTTHUMP00000240019;TBP interacting protein;TBP-interacting protein 120A;TBP-interacting protein of 120 kDa A;cullin-associated NEDD8-dissociated protein 1;cullin-associated and neddylation-dissociated protein 1;p120 CAND1 protein-coding HGNC:30688 06983 607727 VALIDATED 733192 CAND2 cullin-associated and neddylation-dissociated 2 (putative) ENCODES a protein that exhibits TBP-class protein binding (inferred); INVOLVED IN positive regulation of transcription, DNA-templated (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular; INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; paracetamol 3 3 3 p25.2 12776461 12814604 + 12838171 12876313 + 12796672 12834814 + 6480464;8554872 10441524;11278995;12207886;12477932;12692129;16641997;19159115;20736409;21139048;21169563;21890473;21906983;22190034;22613845;22952844;23181366;23864651;23951410;9734811 23066 C9JH00;F8WBB8;O75155 AB014567;ABBA01025188;ABBA01025189;AC034198;AMYH02006301;AMYH02006302;BC136592;BE256308;BX502783;BX648800;CH471055;DB471722;DR001490;GU727621;NM_001162499;NM_012298;W44800 AAI36593;ADU87623;BAA31642;EAW64143;NP_001155971;NP_036430;O75155 Hs.343664 1671993;1680296;1855525;2112560;2112680;2112682;2185840 D3S4338;D3S4400;D3S4401;RH93304;SHGC-32188;SHGC-76713;WI-21041 KIAA0667;TIP120B;Tp120b OTTHUMP00000207913;OTTHUMP00000209387;TBP interacting protein;TBP-interacting protein 120B;TBP-interacting protein of 120 kDa B;cullin-associated NEDD8-dissociated protein 2;cullin-associated and neddylation-dissociated protein 2;epididymis tissue protein Li 169;p120 CAND2;tbp-interacting protein tip120b protein-coding ENSG00000144712 HGNC:30689 610403 VALIDATED 5489226 CAP1P1 CAP1 pseudogene 1 3 3 3 p12.3 77228388 77229795 + 76483169 76484576 + 76434018 76435425 + 401076 ABBA01031000;AC026877;AMYH02007093;NG_022250;NG_027734 pseudo HGNC:31134 INFERRED 5489259 CAP1P2 CAP1 pseudogene 2 10 10 10 q11.21 40103930 40105288 - 44100294 44101652 - 43604846 43606204 - 399748 ABBA01050012;AL645634;AMYH02022716;NG_022144 pseudo HGNC:31970 INFERRED 1348972 CANT1 calcium activated nucleotidase 1 This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010] 17 17 17 q25.3 73585975 73604118 - 76987798 77005899 - 78991716 79009817 - 631908;1580863;6480464;6907045;7240710;8554872 12167635 12234496;12477932;12600208;12676900;12761501;14702039;15006348;15211652;15248776;15489334;16303743;16751776;18067325;18222531;18451133;18854154;19853239;19948975;21037275;21412251;21435463;21654728;22539336;22797925;24250222 124583 K7EIP9;K7EKT2;K7EKW6;K7EMT2;K7EN15;K7EQD4;K7EQT4;Q8WVQ1 AB097006;AB097033;ABBA01002907;ABBA01002908;AC073624;AC100788;AF328554;AJ312208;AK026161;AK074687;AK295930;AMYH02034080;BC005104;BC017655;BC065038;BC118563;CH471099;CQ783584;DC355691;DQ578890;DQ582927;DQ585977;DQ595190;NG_016645;NM_001159772;NM_001159773;NM_138793;XM_005257020;XM_005257021;XM_005257022;XM_006721682;XM_006721683;XR_243633 AAH05104;AAH17655;AAH65038;AAM94564;BAC11139;BAC77359;BAC77386;BAG58716;CAC85468;CAF86751;EAW89548;EAW89549;EAW89550;EAW89551;EAW89552;EAW89553;EAW89554;EAW89555;NP_001153244;NP_001153245;NP_620148;Q8WVQ1;XP_005257077;XP_005257078;XP_005257079;XP_006721745;XP_006721746 Hs.8859 1340599 D17S1806 DBQD;SCAN-1;SCAN1 Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase;SHAPY;apyrase homolog;micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification;putative MAPK-activating protein PM09;putative NF-kappa-B-activating protein 107;soluble Ca-activated nucleotidase, isozyme 1;soluble calcium-activated nucleotidase 1;soluble calcium-activated nucleotidase SCAN-1 APPROVED protein-coding ENSG00000171302 HGNC:19721 13003 251450;613165 REVIEWED 1346127 CAP2P1 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 14 14 14 q31.3 69803981 69806194 - 89755862 89758075 - 89289518 89291731 - 353163 ABBA01030520;AL157736;AL357093;AMYH02029705;NG_002772 pseudo HGNC:20142 INFERRED 1349457 CAP1 CAP, adenylate cyclase-associated protein 1 (yeast) The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p34.2 38788546 38820608 + 40505912 40538321 + 40040583 40072649 + 1580863;2326238;6480464 19188911 11557983;11950878;12477932;12665801;1406678;14702039;15311924;15489334;16289162;16341674;16710414;16807684;17900295;18330356;18671965;18716285;19056867;19738201;20416077;20471030;21139048;21800051;21890473;22304920;22586326;22863883;22939629;22990118;23000965;23182705;23737525;23842884;23904342;24509166;24522810;24816145;25015289;7962207;8125298;8761950 10487 D3DPU2;Q01518;Q5T0R1;Q5T0R2;Q5T0R3;Q5T0R4;Q5T0R5;Q5T0R6;Q5T0R7;Q5T0R8;Q5T0R9;Q5T0S3 ABBA01023190;AK096193;AK222513;AK295396;AK297829;AK298094;AK298110;AK300861;AK315731;AL512599;AMYH02000841;AMYH02000842;BC013963;BC020367;BC095440;BI460362;BM772471;BP391532;BT007152;CH471059;CR457409;L12168;M98474;NM_001105530;NM_006367;XM_005270367;XM_005270368;XM_006710294 AAA35507;AAA35648;AAH13963;AAH95440;AAP35816;ABM81586;ABM84766;BAD96233;BAG38086;BAG58350;BAG60165;BAG60379;BAG60395;BAG62510;CAG33690;EAX07239;EAX07240;EAX07241;EAX07242;EAX07243;EAX07244;EAX07245;NP_001099000;NP_006358;Q01518;XP_005270424;XP_005270425;XP_006710357 Hs.370581 1649851;1723535;2115796;2129011;2151518;2176157;5124079 D1S1857E;D1S2572;G16306;RH118585;RH69007;SHGC-74659;WI-12268 CAP;CAP 1;CAP1-PEN OTTHUMP00000004820;OTTHUMP00000004821;OTTHUMP00000004822;OTTHUMP00000004823;OTTHUMP00000004824;OTTHUMP00000004825;adenylyl cyclase-associated protein 1 APPROVED protein-coding ENSG00000131236 HGNC:20040 09869 614849 REVIEWED 1323330 CAPG capping protein (actin filament), gelsolin-like This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012] 2 2 2 p11.2 85450057 85465950 - 85621871 85641197 - 85394748 85414074 - 1580863;6480464;8554872 11337467;11694586;12477932;12637565;12754261;1322908;15454578;15489334;16767159;17081065;18029348;18059028;18237446;18266911;18461482;18709641;18938132;19011242;19056867;19166812;19188659;19242827;19439302;19454010;21768101;21906983;21908955;22155129;22190510;23085225;23782053;23874603;24654937;7814409;7851883;8125298;9160743 822 B2R9S4;B4DU58;B8ZZL6;E7ENU9;H7C0X8;P40121;V9HW69 ABBA01075748;ABBA01075749;AC062037;AK130130;AK225374;AK225378;AK300507;AK309290;AK313898;AMYH02004181;AU099216;BC000728;BC014549;BU626913;CH471053;FJ224312;M94345;NM_001256139;NM_001256140;NM_001747;U12026;XM_005264581;XM_005264582 AAA59570;AAA92670;AAH00728;AAH14549;AAY24128;ABM83089;ABM86283;ACI46004;BAG36621;BAG62220;EAW99517;EAW99518;EAW99519;EAW99520;NP_001243068;NP_001243069;NP_001738;P40121;XP_005264638;XP_005264639 Hs.516155 2160884;5491818 CAPG;WI-17489 AFCP;HEL-S-66;MCP OTTHUMP00000203056;OTTHUMP00000203057;OTTHUMP00000203058;OTTHUMP00000203059;OTTHUMP00000203060;OTTHUMP00000203061;OTTHUMP00000203063;actin regulatory protein CAP-G;actin-regulatory protein CAP-G;epididymis secretory protein Li 66;gelsolin-like capping protein;macrophage capping protein;macrophage-capping protein APPROVED protein-coding ENSG00000042493 HGNC:1474 01088 153615 REVIEWED 733378 CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008] 6 6 6 p22.3 18632068 18796067 + 17393447 17558023 + 17393505 17557792 + 1580863;6480464;8554872 12477932;15231748;15489334;17000669;18391951;20936779;21139048;22863883;23000965;23022774;7962207;8761950 10486 B7Z385;E9PDI2;F8WDB9;F8WEW0;P40123;Q5JPJ8 ABBA01022212;ABBA01022213;ABBA01022214;ABBA01022215;ABBA01022216;ABBA01022217;ABBA01022218;ABBA01022219;ABBA01022220;ABBA01022221;AI928000;AK293134;AK294215;AK295600;AK297538;AK308461;AK312362;AL034372;AL138824;AL832154;AMYH02013198;AMYH02013199;AMYH02013200;AMYH02013201;AMYH02013202;BC008481;BF791244;BI667914;CH471087;CR457022;NM_006366;U02390 AAA20587;AAH08481;ABM84679;ABM92205;BAG35280;BAH11460;BAH11700;BAH12121;BAH12609;CAG33303;CAI46134;EAW55380;NP_006357;P40123 Hs.132902 1339091;1339355;1678261;1712821;2108715;2140617;2172808;2172810 1874;A006B38;CAP2_9120;D6S1567;D6S966;G20684;RH120127;RH79700 CAP 2 2810452G09Rik;OTTHUMP00000016069;OTTHUMP00000214354;OTTHUMP00000214357;OTTHUMP00000214358;adenylyl cyclase-associated protein 2 APPROVED protein-coding ENSG00000112186 HGNC:20039 10808 REVIEWED 737068 CANX calnexin This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 5 5 5 q35 174751027 174783690 + 179125019 179158642 + 179698929 179731641 + 1580863;2314284;6480464;6907045;8554872 18567819 10364189;10364201;10436013;10461883;10601334;10636893;10671537;10873786;10929008;11054417;11054427;11350933;11506858;11566319;11583625;11751874;11756446;11765911;11851433;11901144;11917123;12052826;12119418;12208510;12222674;12239218;12359150;12383251;12477932;12507291;12562843;12582175;12610305;12610306;12643545;12805210;1286667;1326756;14498830;14732231;14732708;14966132;14980518;15105504;15161937;15231748;15236594;15261665;15467828;15489334;15537650;15557823;15923638;16002696;16061483;16169070;16196087;16257961;16304048;16361248;16546175;16565220;16858427;16938437;16968747;17081065;17081983;17110338;17170088;17203246;17215244;17220478;17360537;17380188;17387721;17395585;17467700;17569659;17728248;17872946;17948026;18029348;18303019;18367207;18417615;18716059;18781797;18791162;19054761;19135240;19322201;19342655;19471022;19524015;19651773;19723497;19801547;19815548;19946888;20202930;20360068;20506117;20528919;20720009;20801878;21081644;21081666;21139048;21145461;21205830;21223948;21252943;21343306;21362330;21632540;21693764;21757827;21842374;21890473;21906983;21963094;22053931;22065046;22113938;22190034;22222883;22242185;22268729;22304920;22314232;22337587;22354994;22505724;22586326;22905195;22915798;22939629;23000965;23125841;23166591;23233672;23246001;23383273;23464991;23514740;23569223;23798571;23932718;24056258;24303155;24332808;24457600;24550385;24583282;24639526;24680774;24816145;25027693;7513695;8055875;8136357;8163531;8278814;8486646;8549676;8550632;8551575;8619474;8621641;8662691;8790377;8910335;9024687;9050874;9110174;9295027;9312001;9525969;9528938;9545232;9642271;9642293;9717723;9765244;9925657 821 D6RAQ8;D6RAU8;D6RB85;D6RD16;D6RDP7;D6RFL1;D6RFW4;D6RG29;D6RGY2;D6RHJ3;H0Y9H1;H0Y9Q7;P27824 ABBA01010032;ABBA01010033;ABBA01010034;ABBA01010035;AC113426;AF070646;AJ271880;AK129990;AK130080;AK294702;AK304420;AK312334;AMYH02012887;AMYH02012888;BC003552;BC042843;BC050534;CH471165;JA462402;L10284;L18887;M94859;M98452;NM_001024649;NM_001746 AAA21013;AAA21749;AAA35696;AAA36125;AAH03552;AAH42843;ABM84720;ABM92244;BAC85269;BAG35255;BAG57859;BAG65250;CAB72137;CCD35249;EAW53802;EAW53803;EAW53804;EAW53805;NP_001019820;NP_001737;P27824 Hs.567968 1653593;1769655;1849556;2112208;2119090;2139140;2171534;2181088 108;D5S2779;RH16379;RH17758;RH44837;SHGC-12400;SHGC-52564;STS-N25670 CNX;FLJ26570;IP90;P90 OTTHUMP00000161516;OTTHUMP00000223184;OTTHUMP00000223187;major histocompatibility complex class I antigen-binding protein p88 APPROVED protein-coding ENSG00000127022 HGNC:1473 00252 114217 REVIEWED 1316482 CAPN12 calpain 12 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012] 19 19 19 q13.2 36022825 36037032 - 39220832 39235114 - 38730192 38744474 - 6480464;8554872 10964513;12477932;14702039;23867815 147968 M0QXJ6;M0QZ20;M0QZT6;M0R052;M0R0X4;M0R3D7;Q6ZSI9 ABBA01040692;ABBA01040693;AC022144;AK125713;AK127398;AMYH02036078;AMYH02036079;BC014027;BC040022;BE872274;CH471126;NM_144691 AAI40398;AAI53094;BAC86959;EAW56813;EAW56814;EAW56815;EAW56816;NP_653292;Q6ZSI9 Hs.731775 1854288;2180935 RH16012;SHGC-16522 MGC20576 CANP 12;calcium-activated neutral proteinase 12;calpain-12 APPROVED protein-coding ENSG00000182472 HGNC:13249 07007 608839 VALIDATED 736980 CAPN1 calpain 1, (mu/I) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 11 11 11 q13 62275660 62305793 + 64948686 64979477 + 65181215 65212006 + 1580863;1626249;6480464;6907045;8554872 17429681 10521480;10677567;10830966;10846184;10978167;11516996;11861304;12000759;12121992;12150984;12200134;12358155;12393869;12432277;12477932;12591934;12684003;12843408;14559243;14612448;14702039;14980313;15131115;15231747;15302874;15471877;15488707;15489334;15590628;15663601;15809056;15935327;15948206;15950654;15975558;16107503;16150694;16344560;16361262;1656060;16598790;16697376;16737952;16740134;16908521;17121855;17157313;17195093;17359359;17620599;17690304;17716656;17765980;17897354;17908236;17977825;18029348;18032503;18070881;18071073;18085799;18165173;18468730;18498295;18624398;18624772;18726991;18793761;18806756;18823990;19022302;19056867;19457105;19458911;19617626;19712109;19738201;19901552;19946330;20034566;20041182;20193680;20398180;20514436;20518497;20557290;20659425;20679491;20933204;20962236;21139048;21209906;21252943;21268016;21305563;21315622;21374734;21442128;21494752;21516125;21531719;21555338;21808066;21825064;21839844;21876002;21880013;21890473;21906983;21963094;21987572;21988832;2209092;22145905;22190034;22335024;22449977;22477191;22480599;22505724;22586326;22623428;22863883;22990118;23000965;23006733;23289183;23400779;23408424;23443559;23515028;23707532;23733271;23824909;2400579;24413738;24416790;24816145;25027693;2844821;3017764;3038169;7493986;7499244;7592818;8253784;8561910;8695851;8702541;8938448;8954122;8993318;9110986;9852298;9989581 823 B2RDI5;B4DWH5;E9PIA9;E9PJA6;E9PJJ3;E9PL37;E9PLC9;E9PLX0;E9PMC6;E9PQB3;E9PRM1;E9PSA6;P07384 ABBA01024132;ABBA01024133;AK022319;AK025380;AK097277;AK301538;AK311001;AK315556;AMYH02024953;AP003068;AY550975;AY796340;BC008751;BC015091;BC017200;BC075862;BE018156;CH471076;DA788342;DC365116;DC372552;NM_001198868;NM_001198869;NM_005186;NR_040008;X04366;XM_006718698 AAH08751;AAH17200;AAH75862;AAT52221;AAV41878;ABM83831;ABM87599;BAG37932;BAG63037;CAA27881;EAW74366;EAW74367;EAW74368;EAW74369;EAW74370;EAW74371;NP_001185797;NP_001185798;NP_005177;P07384;XP_006718761 Hs.502842;Hs.735492 1738121;1851227;2132979;2167102;2175336;5016596 D11S3744;G33105;GDB:631802;RH11707;RH48703;SGC31567 CANP;CANP 1;CANP1;CANPL1;muCL OTTHUMP00000230448;OTTHUMP00000230452;OTTHUMP00000230453;OTTHUMP00000230454;OTTHUMP00000230461;calcium-activated neutral proteinase 1;calpain 1;calpain mu-type;calpain, large polypeptide L1;calpain-1 catalytic subunit;calpain-1 large subunit;cell proliferation-inducing gene 30 protein;cell proliferation-inducing protein 30;micromolar-calpain;muCANP APPROVED protein-coding ENSG00000014216 HGNC:1476 00253 114220 REVIEWED 1342957 CAPN11 calpain 11 Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008] 6 6 6 p12 45679690 45705285 + 44126548 44152139 + 44158811 44184402 + 1580863;6480464 10340998;10409436;12477932;15489334;16344560;16541461;21988832;2479145;8070630 11131 E9PIX3;E9PQZ4;Q9UMQ6 ABBA01050646;ABBA01050647;ABBA01050648;AJ242832;AK300107;AK309883;AK314054;AL365192;AMYH02013657;BC033733;BG721593;CH471081;DB052011;NM_007058;XM_006714984;XM_006714985;XM_006714986;XM_006714987 AAH33733;ADZ15500;BAG36761;BAG61902;CAB52137;EAX04250;EAX04251;EAX04252;EAX04253;NP_008989;Q9UMQ6;XP_006715047;XP_006715048;XP_006715049;XP_006715050 Hs.225953 1334933;2109105 CAPN11_9225;D6S1650 calpain11 CANP 11;OTTHUMP00000016505;calcium-activated neutral proteinase 11;calpain-11 APPROVED protein-coding ENSG00000137225 HGNC:1478 05315 604822 REVIEWED 7247095 CAPN10-AS1 CAPN10 antisense RNA 1 (head to head) 2 2 q37.3 241522167 241525733 - 240582750 240586316 - 14702039;21254220;23382218 101752400 ABBA01048874;AC124862;AK024254;AL832402;AMYH02006099;HG495355;NR_103792 Hs.585987 RP11-27M15.1;locus959 ncrna ENSG00000260942 HGNC:48839 VALIDATED 732443 CAPN10 calpain 10 Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010] 2 2 2 q37.3 235198477 235210856 + 241526133 241538526 + 240586716 240599109 + 737693;1625047;734686;1625046;1625049;1625050;1580863;1625063;4107073;4107074;6480464;7247733;7247735;7247732;7247734;7247736;7240710;8554872 11018080;11673414;14646187;14658759;16721485;16752174;17106059;18554168;19688040;20178008;20406624;22012129;22568896 11017071;11347906;11350192;11375982;11481585;11522685;11704924;11736815;11756346;11756349;11774208;11836299;11872216;11891023;11891618;11932299;11935160;11978665;11978669;11980626;12046551;12050223;12083814;12107250;12107735;12107745;12133483;12137596;12145185;12161543;12453914;12477932;12519860;12905623;12974673;14500039;14574648;14602801;14642065;14702039;14730479;14741193;14749261;14759258;14974344;15044459;15172858;15240652;15471947;15489334;15641690;15652721;15696376;15793266;15860244;15862281;15926113;16028216;16186407;16306378;16333311;16344560;16377260;16427731;16456802;16546286;16790502;16837224;16857402;16873988;17382509;17454172;17511963;17559371;17560157;17570749;17572128;17601994;17855447;17964829;18167206;18241614;18248681;18367022;18452715;18487065;18683748;18698425;18701098;18722363;18936436;19144693;19193380;19297292;19336475;19337008;19387820;19418728;19491387;19565864;19570442;19578796;19643578;19752882;19948975;20075150;20119856;20142250;20193213;20368234;20470430;20570542;20667559;20682687;20848425;20881413;20923526;21389182;21906115;21988832;22384174;22796443;23021796;23262350;23687414;23994294;24034724;24266779;24779302;9396712 11132 B7WPF5;H7C251;H7C2P1;Q9HC96 AB058748;ABBA01048874;ABBA01048875;AC124862;AF089088;AF089090;AF089091;AF089092;AF089093;AF089094;AF089096;AF158748;AK027330;AK074807;AK128552;AK300279;AL558905;AMYH02006099;AU310002;BC004260;BC007553;BC107088;BI909439;BQ052841;BQ962770;CH471063;DA413480;DA623373;DB224752;NG_011558;NM_023083;NM_023085 AAG17966;AAG17968;AAG17969;AAG17970;AAG17971;AAG17972;AAG17974;AAH04260;AAH07553;AAX88944;ABM84445;ABM87502;BAB47474;BAC11220;BAH13249;EAW71197;EAW71199;EAW71204;EAW71205;EAW71206;NP_075571;NP_075573;Q9HC96 Hs.728234 1667769;1678617;1721391;1776059;1781326;1781328;1781330 G31184;G31185;G31186;G59697;RH46532;RH80243;WI-15718 CANP10;NIDDM1 CANP 10;OTTHUMP00000164509;OTTHUMP00000201396;OTTHUMP00000201422;OTTHUMP00000201424;OTTHUMP00000201425;OTTHUMP00000201427;OTTHUMP00000201428;calcium-activated neutral protease;calcium-activated neutral proteinase 10;calpain-10;calpain-like protease CAPN10 2315054;2315066;2315772 GLUCO131_H;GLUCO132_H;GLUCO146_H APPROVED protein-coding ENSG00000142330 HGNC:1477 05595 601283;605286 REVIEWED 1352333 CAPN14 calpain 14 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008] 2 2 2 p23.1-p21 31238630 31283129 - 31395922 31456724 - 31173056 31226651 - 6480464;8554872 10964513;11675017;14702039;23867815 440854 A8MX76;B7Z467;F1LLU4;G8JLL1 AA743820;ABBA01074852;AC015980;AK092257;AK296910;AL121657;AMYH02003524;DC347418;NM_001145122;XM_006712022 A8MX76;BAG52511;BAH12453;NP_001138594;XP_006712085 Hs.468059 1337052;1721687;1751339;1779030 D2S2283;D2S2741;G59706;SHGC-105147 FLJ54788 CANP 14;OTTHUMP00000201066;calcium-activated neutral proteinase 14;calpain-14 APPROVED protein-coding ENSG00000214711 HGNC:16664 610229 VALIDATED 1315174 CAPN15 calpain 15 This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 778242 804990 + 577816 604636 + 523982 554636 + 1580863;6480464 10524757;11076863;11157797;12477932;15489334;21139048;21890473;21906983;21963094;21987572;22053931;23263863;24250222;8640222;9722942 6650 H3BR03;H3BT55;H3BTS4;O75808 ABBA01030363;ABBA01030364;AE006464;AMYH02031195;AMYH02031196;BC001869;BC011939;BC021854;BC032648;BC040169;BC044259;BC112918;BX341589;CH471112;NM_005632;U69557;U85647;XM_005255514;XM_005255516;XM_005255517;XM_005255518;XM_006720931;XM_006720932;XM_006720933;XM_006720934;XM_006720935;Z97986;Z98882 AAC33822;AAH01869;AAH21854;AAI11933;AAI12919;AAI18502;AAK61233;EAW85803;NP_005623;O75808;XP_005255571;XP_005255573;XP_005255574;XP_005255575;XP_006720994;XP_006720995;XP_006720996;XP_006720997;XP_006720998 Hs.632219 1698932 RH103035 MGC131491;SOLH OTTHUMP00000147599;calpain-15;small optic lobes homolog APPROVED protein-coding ENSG00000103326 HGNC:11182 07220 603267 REVIEWED 1349624 CAPN13 calpain 13 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012] 2 2 2 p22-p21 30788751 30873413 - 30945637 31030383 - 30722771 30807445 - 6480464;8554872 10737800;10964513;11675017;12477932;14702039;15489334;15815621;20379614;20591971 92291 F5GYA7;H7C1Z4;Q6MZZ7 ABBA01074848;ABBA01074849;ABBA01074850;AC092569;AK026692;AK027176;AK074418;AK290298;AK308037;AMYH02003518;AMYH02003519;BC117345;BC117347;BM127691;BX476842;BX640793;BX647678;CH471053;NM_144575 AAI17346;AAI17348;AAX82015;ADR83092;BAB85075;BAF82987;CAE45878;EAX00491;EAX00492;EAX00493;NP_653176;Q6MZZ7 Hs.660911 1336214;1683755;1713973;1715537;1852572 D2S375;RH119416;RH120912;RH47910;SHGC-1668 FLJ23523 CANP 13;OTTHUMP00000201117;OTTHUMP00000201118;calcium-activated neutral proteinase 13;calpain-13 APPROVED protein-coding ENSG00000162949 HGNC:16663 07008 610228 VALIDATED 732800 CAPN2 calpain 2, (m/II) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 1 1 1 q41-q42 197044917 197119643 + 223889295 223963720 + 223701593 223776018 + 1580863;1626249;6480464;6907045;8554872 17429681 10639123;10666632;1067155;10671558;10830966;10944468;10978167;11023826;11387205;11483505;11517928;11673052;11853546;12000759;12070670;12130691;12150984;12477932;12665801;12783889;14559243;14688278;14702039;14976200;14980313;14993287;1527057;15302874;15471877;15489334;15590481;15817486;15950654;16310784;16344560;16361262;16436382;16530191;16598790;16652152;16816119;17192410;17261541;17359359;17596297;17643375;17650508;17897354;18032503;18239623;18332219;18340456;18568448;19056867;19074885;19422794;19720936;19752040;19756344;19861418;19913121;19946123;20041182;20070945;20150423;20193680;20379614;20453000;20618160;20628086;20729206;20730561;20924799;20962236;21086148;21117903;21139048;21152086;21185840;21374734;21839844;21890473;21906983;21963094;22064597;2209092;22335024;22435971;22623320;22629380;22711986;22745213;22863883;22990118;23000965;23140395;23389291;23466492;23538341;23667531;23733271;23889979;23940116;24778252;25027693;2539381;2852952;3038169;8561910;8900201;8954122;9213221;9337844;9407132;9562261;9873017 824 B4DN77;C9JWY7;P17655;Q59EF6 AB209855;ABBA01008155;ABBA01008156;ABBA01008157;ABBA01008158;AC096542;AC099065;AF261089;AI089162;AK023851;AK056838;AK097247;AK124751;AK297800;AK303952;AK315179;AK316211;AMYH02002765;AMYH02002766;AY835586;BC007686;BC011828;BC021303;CH471100;DA448245;J04700;M23254;NM_001146068;NM_001748 AAA35645;AAA52760;AAF99682;AAH07686;AAH11828;AAH21303;AAV80421;ABM84238;ABM84546;ABW03605;BAC85936;BAD93092;BAG37620;BAG53441;BAG60139;BAG64879;BAH14582;EAW93249;EAW93250;EAW93251;NP_001139540;NP_001739;P17655 Hs.350899 1652057;2115825;2133079;2142765;2164828;5022578 AL009595;D1S1423;D1S2550;D1S3584;SHGC-76403;UniSTS:56629 CANP 2;CANP2;CANPL2;CANPml;FLJ39928;mCANP M-calpain;OTTHUMP00000035497;calcium-activated neutral proteinase 2;calpain 2;calpain 2, large [catalytic] subunit;calpain 2, large subunit;calpain M-type;calpain large polypeptide L2;calpain, large polypeptide L2;calpain-2 catalytic subunit;calpain-2 large subunit;millimolar-calpain 2289325 BW86_H APPROVED protein-coding ENSG00000162909 HGNC:1479 00254 114230 REVIEWED 734276 CAPN6 calpain 6 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009] X X X q23 110967943 110993390 - 110488327 110513774 - 111245099 111270546 - 635266;1580863;6480464 9503024 10340998;12477932;15489334;15772651;16344560;17210638;18187620;18657900;19913121;20414141;20628086;21681744;8163008;8401585;9339374 827 Q9Y6Q1 A98730;AA368247;ABBA01043322;ABBA01043323;ABBA01043324;AF029232;AJ000388;AK300340;AK312701;AL031117;AMYH02040235;AMYH02040236;AY800242;BC000730;CH471120;DA863483;L32067;NG_015962;NM_014289 AAB86605;AAH00730;AAV41896;ABM82777;ABM85967;BAG35579;BAG62085;CAA04051;CAB70568;EAX02650;EAX02651;NP_055104;Q9Y6Q1 Hs.496593 1645334;1691670;1702454;2187278;5119184 AL023597;AL032604;DXS1252;DXS7540;SGC32977 CANPX;CAPNX;CalpM;DJ914P14.1 OTTHUMP00000023858;calpain-6;calpain-like protease X-linked;calpamodulin APPROVED protein-coding ENSG00000077274 HGNC:1483 02145 300146 REVIEWED 5128765 CAPNS1P1 calpain, small subunit 1 pseudogene 1 1 1 1 p22.2 88105341 88105980 + 89859580 89860219 + 89394021 89394660 + 391053 ABBA01045587;AL691464;AMYH02001434;NG_022791 pseudo HGNC:39562 INFERRED 1312532 CAPN7 calpain 7 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008] 3 3 3 p24 15185995 15232682 + 15247733 15294423 + 15206226 15252916 + 1580863;6480464 10051333;11342116;12477932;14702039;17986458;19056867;20849418;21616915;21890473;21906983;21963094;22505724;23497113;23855590;8163008;8889548 23473 F8WCZ1;F8WDQ3;H7C0F1;H7C1B7;Q7Z479;Q9Y6W3 AB028639;ABBA01025142;ABBA01025143;ABBA01025144;AC087590;AK093742;AK314253;AMYH02006329;AMYH02006330;AMYH02006331;BC056202;BI464220;BM974327;BX502535;CH471055;NM_014296;XM_005265008;XM_006713080;XR_245107;XR_245108 AAH56202;ADZ16049;BAA78730;BAG36919;EAW64223;EAW64224;NP_055111;Q9Y6W3;XP_005265065;XP_006713143 Hs.595234 1683255;1753605;2121447;2124861;2158282 G16595;RH66709;RH68909;SHGC-107505;SHGC-64041 CALPAIN7;FLJ36423;PALBH OTTHUMP00000160302;calpain like protease;calpain-7;homolog of Aspergillus Nidulans PALB;palB homolog APPROVED protein-coding ENSG00000131375 HGNC:1484 05908 606400 REVIEWED 735486 CAPNS1 calpain, small subunit 1 Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. Calpain I and II are heterodimeric with distinct large subunits associated with common small subunits, all of which are encoded by different genes. This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.12 33345090 33355427 + 36630918 36641255 + 36140016 36150353 + 1580863;6480464;8554872 10639123;10661889;10666632;10737800;11516996;11517928;11673052;12121983;12358155;12477932;12591934;12684003;14559243;15057824;15489334;15611136;16169070;1656060;17643375;18029348;18234454;18544539;18761085;19199708;19738201;19913121;19942621;20107320;20419804;20628086;21151833;21268016;21890473;21906983;21963094;21988832;2209092;22118674;22623428;22863883;22939629;23349941;23443559;23798571;24297866;24703594;24816145;3016651;3024120;8561910;8619474;8702541;9110174;9326644 826 K7EIV0;K7EKD8;K7ELJ7;K7EM73;K7EMQ1;K7ES78;P04632;S4R3F9;U3KPR7;U3KQE2 ABBA01018779;AC002984;AD001527;AK289606;AMYH02036000;AY007141;AY789642;BC000592;BC007779;BC011903;BC017308;BC018931;BC021933;BC023643;BC064998;BF822052;BQ898664;BT009775;M31501;M31511;NM_001003962;NM_001749;X04106;X64180;X64190;XM_005259295;XM_005259296;XM_005259297 AAA35646;AAB51183;AAB81546;AAH00592;AAH07779;AAH11903;AAH17308;AAH18931;AAH21933;AAH23643;AAH64998;AAP88777;AAV40829;BAF82295;CAA27726;NP_001003962;NP_001740;P04632;XP_005259352;XP_005259353;XP_005259354 Hs.515371 1665842;1734642;2155827;2168428;2177925;5022716 CAPNS1;D19S1102;D19S640E;G13289;RH69431;STS-X04106 30K;CALPAIN4;CANP;CANPS;CAPN4;CDPS;CSS1 CANP small subunit;calcium-activated neutral proteinase small subunit;calcium-dependent protease small subunit 1;calcium-dependent protease, small subunit;calpain 4, small subunit (30K);calpain regulatory subunit;calpain small subunit 1;calpain, small polypeptide APPROVED protein-coding ENSG00000126247 HGNC:1481 00240 114170 REVIEWED 731611 CAPN9 calpain 9 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42.11-q42.3 204149151 204203730 + 230883089 230937749 + 230747343 230802003 + 724622;734688;1580863;6480464 10835488;9524069 11516996;12477932;17157313;18976975;19074885;20379614;20453000;23049088;8561910;9917325 10753 E7ESS6;O14815;Q6PIV8 AB038463;ABBA01033028;ABBA01033029;AF022799;AK298024;AK309039;AK313629;AL512328;AMYH02002882;AY874864;BC027993;CH471098;FO393421;NM_006615;NM_016452;XM_005273010;XR_426915 AAB80762;AAH27993;AAW49735;BAA92137;BAG36389;BAG60326;EAW69920;EAW69921;EAW69922;NP_006606;NP_057536;O14815;XP_005273067 Hs.498021 1336310;1764693;1765383;1852539;2126263;2145576 AL009462;D1S1656;D1S3730;G15722;SHGC-148285;SHGC-148871 GC36;nCL-4 OTTHUMP00000035899;OTTHUMP00000035900;calpain 9 (ncl-4);calpain-9;digestive tract-specific calpain;new calpain 4;novel calpain large subunit-4 2289325 BW86_H APPROVED protein-coding ENSG00000135773 HGNC:1486 05909 606401 REVIEWED 731758 CAPN5 calpain 5 Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008] 11 11 11 q14 74085463 74144685 + 76777992 76837201 + 77066945 77126155 + 635266;1580863;6480464;7240710;8554872;8699517 9503024 11168679;11517927;12477932;14702039;15464980;15489334;16396936;17227582;18657264;18787380;18829447;19056867;19734545;19913121;19948975;20200332;20628086;20706999;21139048;21906983;23000965;23055945;8889548;9339374;9367857 726 E7EV01;E9PS73;K7EP62;O15484 AB209087;ABBA01017439;ABBA01017440;ABBA01017441;AK092880;AK094150;AK128124;AK129588;AK310978;AK313132;AMYH02025130;AP000752;BC018123;BM679546;CH471076;KF511158;NG_033002;NM_004055;U94346;Y10552 AAC51869;AAH18123;ABM82528;ABW03388;BAC85188;BAC87282;BAD92324;BAG52829;CAA71584;EAW75014;EAW75015;EAW75016;NP_004046;O15484 Hs.248153 1652209;1660070;1661768;1678357;1737065;1737663;1778290;2107453;2136136;2149504;2181240;2220364;5022200 A003B31;A006A01;D11S2312E;D11S2819;D11S3269;L18426;OMP;OMP__7185;RH47480;RH70524;RH78791;UniSTS:480807;WI-18290 ADNIV;FLJ46245;HTRA3;VRNI;nCL-3 OTTHUMP00000228836;OTTHUMP00000228838;OTTHUMP00000228839;calpain htra-3;calpain-5;new calpain 3;vitreoretinopathy, neovascular inflammatory APPROVED protein-coding ENSG00000149260 HGNC:1482 03963 193235;602537 REVIEWED 736537 CAPN8 calpain 8 ENCODES a protein that exhibits calcium ion binding (inferred); calcium-dependent cysteine-type endopeptidase activity (inferred); INVOLVED IN digestion (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); intracellular (inferred); INTERACTS WITH (S)-colchicine (ortholog); 1,2,4-trimethylbenzene (ortholog); 17beta-estradiol (ortholog) 1 1 1 q41 196935481 197009067 - 223714972 223853436 - 223609153 223665734 - 632482;6480464;8554872 7690035 11329013;11516996;11523006;12477932;16341674;16344560;17646163;8889549 388743 A3QK36;A3QK37;A6NHC0;B1B153;B1B154;H0YDN4;H0YEJ4;H0YEQ4 ABBA01006375;ABBA01008159;ABBA01008160;AC099065;AMYH02002758;AMYH02002759;AMYH02002760;AMYH02002761;AMYH02002762;AMYH02002763;AMYH02002764;AMYH02002765;BC157893;BG187068;BM739137;BM843240;CR628412;CR848842;DA874912;FO681503;NM_001143962 A6NHC0;AAI57894;NP_001137434 Hs.291487 1340391;1755447;1765245;1781676;2157613;2159628;7185256 D1S213;D1S2568;SHGC-142314;SHGC-148734;SHGC-155000;SHGC-76401 nCL-2 calpain-8;new calpain 2;stomach-specific M-type calpain protein-coding ENSG00000203697 HGNC:1485 VALIDATED 1345503 CAPNS2 calpain, small subunit 2 ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH disodium selenite; hydrogen peroxide; hydroquinone O-beta-D-glucopyranoside 16 16 16 q12.2 40114807 40115815 + 55600584 55601592 + 55566672 55567680 + 1580863;6480464 11853546;12477932;15489334;15590481;17207965;19913121;20628086;21832049;23390828;23408906 84290 Q96L46 ABBA01066525;AC007336;AMYH02032076;AY052551;BC005397;BC006000;CH471092;NM_032330 AAH05397;AAH06000;AAL02241;ACE87747;ADQ32630;EAW82830;NP_115706;Q96L46 Hs.660027 CSS2;MGC12536;MGC14804 OTTHUMP00000236926;calcium-dependent protease small subunit 2;calpain small subunit 2 protein-coding ENSG00000256812 HGNC:16371 16682 VALIDATED 731876 CAPN3 calpain 3, (p94) Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008] 15 15 15 q15.1 19408011 19472224 + 42646545 42704515 + 42359500 42412317 + 69795;734687;1600769;1600777;1580863;6480464;7240710;8554872;8699517 10806331;10814721;2555341;9150160 10068445;10229226;10330340;10987085;11485017;12075569;12461690;12477932;12482600;12882647;14506720;14583192;14675785;14702039;14981715;15073171;15221789;15324660;15351423;15489334;15689361;15725583;15827562;16107503;16141003;16189514;16290124;16533054;16627476;16934440;16971480;17157502;17318636;17585039;17596655;17702496;17897354;17979987;18073330;18258189;18299526;18310072;18334579;18337726;18563459;18676612;18854869;18974005;19048948;19074885;19386580;19460752;19556129;20139084;20301490;20301582;20477750;20517216;20533264;20634290;20635405;20686565;20860623;21172462;21204801;21386772;21836041;21984748;22006685;2209092;22158424;22443334;22486197;22505582;22926650;22975586;23666804;23707407;23821418;23908349;24097068;24126726;24715573;7720071;8537379;8624690;8954122;9185618;9246005;9266733;9396712;9642272;9655129;9762961;9763216;9771675;9873017 825 C6EVS3;C6EVS4;F8W8F5;H3BMH1;H3BNN7;H3BS30;H3BS77;H3BSA2;H3BUR3;H3BUZ3;H3BV08;P20807 ABBA01038377;ABBA01038378;AC012651;AF127764;AF127765;AF147441;AF209502;AK027249;AK293792;AK308103;AMYH02030282;AMYH02030283;AMYH02030284;AY902237;BC003169;BC003521;BC004883;BC007810;BC067126;BC100782;BC100783;BC100784;BC107791;BC128605;BC146649;BC146672;BT007322;EU791850;EU791851;FB775530;FB775532;FB775534;FB775536;FB775538;FB775540;FB775542;NG_008660;NM_000070;NM_024344;NM_173087;NM_173088;NM_173089;NM_173090;X85030 AAD28253;AAD28254;AAH03169;AAH03521;AAH04883;AAH07810;AAH67126;AAI00783;AAI00784;AAI00785;AAI07792;AAI28606;AAI46650;AAI46673;AAL40183;AAP35986;AAW69391;ACE86752;ACE87440;ACI63187;ACI63188;BAG57205;CAA59403;CAV30722;CAV30723;CAV30724;CAV30725;CAV30726;CAV30727;CAV30728;NP_000061;NP_077320;NP_775110;NP_775111;NP_775112;NP_775113;P20807 Hs.143261 1644727;1652869;1669128;1728933;1736718;1736740;1736772;1739419;1745141;1745143;1745145;1745147;1745149;1745151;1745153;1745155;1745179;1745183;1745185;1745187;1745189;1745191;1745195;1745197;1745201;1745203;1745205;1745209;1745211;1745217;1745221;1745225;1745227;1745229;1745235;1745237;1768707;1790231;2110299;2111252;2166229;2191531;5491326 CAPN3__4505;D15S1208;D15S498;D15S741;D15S756;D15S774;D15S882E;EST160846;GDB:595491;GDB:595502;GDB:595506;GDB:595511;GDB:595521;GDB:595526;GDB:595530;GDB:595532;GDB:596044;GDB:596046;GDB:596049;GDB:596085;GDB:596146;GDB:596192;GDB:596194;GDB:596196;GDB:596199;GDB:596200;GDB:596203;GDB:596205;GDB:596208;GDB:596213;GDB:596223;GDB:596226;GDB:596229;GDB:596230;GDB:596235;GDB:596238;MARC_26098-26099:1032551724:1;PMC104364P1;RH17562;SHGC-35143;SKM-CALPOV;UniSTS:141225;WI-17962 CANP 3;CANP3;CANPL3;LGMD2;LGMD2A;MGC10767;MGC11121;MGC14344;MGC4403;nCL-1;p94 OTTHUMP00000161194;OTTHUMP00000161195;OTTHUMP00000161196;calcium-activated neutral proteinase 3;calpain 3;calpain L3;calpain p94, large [catalytic] subunit;calpain, large polypeptide L3;calpain-3;muscle-specific calcium-activated neutral protease 3 large subunit;new calpain 1 APPROVED protein-coding ENSG00000092529 HGNC:1480 00255 114240;253600 REVIEWED 1313896 CAPRIN1 cell cycle associated protein 1 ENCODES a protein that exhibits poly(A) RNA binding; RNA binding (ortholog); INVOLVED IN negative regulation of translation (ortholog); positive regulation of dendrite morphogenesis (ortholog); positive regulation of dendritic spine morphogenesis (ortholog); FOUND IN cytoplasm; membrane; cytoplasmic mRNA processing body (ortholog); INTERACTS WITH 17beta-estradiol; 2-methylcholine; all-trans-retinoic acid 11 11 11 p13 34220789 34271699 + 34073230 34124157 + 34051683 34102610 + 1580863;6480464 11060040;12183049;12477932;14764709;15471883;16055720;16177067;17210633;17353931;18029348;19250063;19542561;19946888;20020773;20360068;20516077;20696395;21139048;21145461;21182205;21832049;21890473;21906983;21963094;22053931;22174317;22268729;22505724;22586326;22737234;22939629;23000965;23097442;23125841;23463506;23528710;24332808;24457600;24583282;24778252;24816145;24992036;7657653;8786113 4076 E9PLA9;E9PP31;G3V153;Q14444 ABBA01060876;ABBA01060877;AC090469;AF086078;AK127972;AK299720;AMYH02024577;BC001731;BC015700;BC026302;BK001101;BK001104;BR000867;CH471064;JA385098;JA385100;JC263740;JC263742;JC281396;JC281398;JC288314;JC288316;JC297066;JC297068;JC339221;JC339223;JC365420;JC365422;JC428111;JC428113;JC450567;JC450569;NM_005898;NM_203364;X89572;Z48042 AAH01731;ABW03502;ABW03810;ABW03918;BAG54610;BAG61620;CAA61751;CAA88096;CCB07370;CCB07371;CDM55461;CDM55462;CDM55499;CDM55500;CDM55530;CDM55531;CDM55547;CDM55548;CDM63427;CDM63428;CDM63613;CDM63614;CDM63664;CDM63665;CDM63727;CDM63728;DAA01118;DAA01121;EAW68176;EAW68177;EAW68178;EAW68179;EAW68180;FAA00692;NP_005889;NP_976240;Q14444 Hs.471818 1676862;1677338;1679479;1688845;1689410;1693604;1719879;2137106;2137521;2141626;2165393;5018347;5124633 RH123632;RH12452;RH142945;RH27392;RH64874;RH79878;RH80676;RH93956;RH98715;SHGC-58520;STS-L37771;STS-T10644;WI-19568 GPI-p137;GPIAP1;GPIP137;GRIP137;M11S1;RNG105;p137GPI GPI-anchored membrane protein 1;GPI-anchored protein p137;OTTHUMP00000232328;OTTHUMP00000232330;OTTHUMP00000232331;OTTHUMP00000232929;OTTHUMP00000232930;RNA granule protein 105;activation/proliferation-associated protein 1;caprin 1;caprin-1;cell cycle-associated protein 1;cytoplasmic activation- and proliferation-associated protein 1;cytoplasmic activation/proliferation-associated protein-1;membrane component chromosome 11 surface marker 1;membrane component, chromosome 11, surface marker 1 protein-coding ENSG00000135387 HGNC:6743 03108 601178 VALIDATED 1352276 CAPZA1P capping protein (actin filament) muscle Z-line, alpha 1 pseudogene X X X q21.3 87588102 87590440 - 87349921 87352259 - 88094920 88097258 - 11499681 53338 ABBA01051962;AF284769;AL024493;AMYH02039925;NG_001277 pseudo HGNC:1489 INFERRED 1604605 CAPRIN2 caprin family member 2 The protein encoded by this gene may be involved in the transitioning of erythroblasts from a highly proliferative state to a terminal phase of differentiation. High level expression of the encoded protein can lead to apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 12 12 12 p11 36005312 36050258 - 30862486 30907448 - 30709552 30754860 - 6480464 11347906;12477932;14593112;14702039;14764709;16094384;18762581;20516077;21145461 65981 F5GXI7;F5GYA1;F5GZX3;F5H142;F5H5J8;F5H7T6;H0YGG3;H0YID4;H3BM22;Q6IMN6 AB058776;ABBA01068089;AC010198;AF326778;AF525416;AK021453;AK024247;AK026222;AL834212;AMYH02026269;AY074490;AY074491;BC007520;BC025420;BC066295;BC111007;BC117672;BC117673;BK001102;BK001103;BQ010043;BR000870;BX537569;BX538080;CH471094;KF455635;NG_029557;NM_001002259;NM_001206856;NM_023925;NM_032156;NR_038177;XM_006719137;XM_006719138;XM_006719139;XM_006719140;XM_006719141;XM_006719142;XM_006719143;XM_006719144;XM_006719145;XM_006719146;XM_006719147;XM_006719148 AAH66295;AAI11008;AAI17673;AAI17674;AAK83153;AAL71549;AAL71550;AAP80792;BAB13830;BAB15398;BAB47502;CAD97786;CAD98004;DAA01119;DAA01120;EAW96608;EAW96609;EAW96610;EAW96611;EAW96612;EAW96613;EAW96614;EAW96615;EAW96616;FAA00695;NP_001002259;NP_001193785;NP_076414;NP_115532;Q6IMN6;XP_006719200;XP_006719201;XP_006719202;XP_006719203;XP_006719204;XP_006719205;XP_006719206;XP_006719207;XP_006719208;XP_006719209;XP_006719210;XP_006719211 Hs.234355 1664569;1726007;1740149;1852211;2171514;2171516;5022651;5037552 A006H42;A006S17;D11S2921;D12S1577;D12S1821;D8S2279;G20824;G62362 C1QDC1;EEG-1;EEG1;FLJ11391;FLJ22569;KIAA1873;MGC102894;MGC134847;MGC134848;RNG140 C1q domain containing 1;C1q domain-containing protein 1;OTTHUMP00000240356;OTTHUMP00000240689;OTTHUMP00000240691;OTTHUMP00000240692;OTTHUMP00000240693;RNA granule protein 140;caprin-2;cytoplasmic activation/proliferation-associated protein 2;gastric cancer multidrug resistance-associated protein APPROVED protein-coding ENSG00000110888 HGNC:21259 12711 610375 REVIEWED 1601932 CAPSL calcyphosine-like ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH acetylsalicylic acid; phenobarbital; valproic acid 5 5 5 p13.2 35790080 35824563 - 35904397 35938881 - 35904295 35938779 - 6480464;8554872 12477932;15489334;17554260;18563381;21832049;8889548;8889549 133690 D6RF97;D6RHD7;Q8WWF8 ABBA01024158;AC112204;AMYH02011162;BC017586;BM975803;CD687387;CH471119;NM_001042625;NM_144647;W25222;XM_006714444;XM_006714445 AAH17586;ADZ16101;EAW55926;NP_001036090;NP_653248;Q8WWF8;XP_006714507;XP_006714508 Hs.55150 1719525 RH123495 MGC26610 OTTHUMP00000161737;OTTHUMP00000221227;OTTHUMP00000222243;calcyphosin-like protein protein-coding ENSG00000152611 HGNC:28375 14506 VALIDATED 1348480 CAPS calcyphosine This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5853155 5855184 + 5913659 5916222 + 5913648 5916211 + 1580863;6480464 12477932;15057824;15489334;18029348;18729184;18775726;19190083;19275752;20468064;2265558;2540953;8125298;8889548;9125191;9224948 828 K7EL21;K7ES72;Q13938;Q96ET4 ABBA01055983;AC004602;AC104532;AK090469;AK226026;AMYH02035342;AW510425;BC011961;BC019065;BC080599;BC101513;BC104766;BG768134;BU689238;CH471139;CS300742;CS300743;NM_004058;NM_080590;X97966;XM_005259656;XM_005259657 AAC14484;AAH11961;AAH80599;AAI01514;AAI04767;BAC03450;CAA66609;CAK32406;CAK32407;EAW69125;EAW69126;EAW69127;EAW69128;NP_004049;NP_542157;Q13938;XP_005259713;XP_005259714 Hs.584744 2129061;5014019;5014039;5015619;5015961;5016478;5016781;5017227;5020946;5022200;5022322;5022578;5037552;5493005 D11S2560;D11S3114;D15S1477;D1S1423;D22S1584;D5S2354;D8S2279;G38154;GDB:434012;L17971;L18426;RH78172;SHGC-67307;UniSTS:483678 CAPS1;MGC126562 calcyphosin;calcyphosine 1;thyroid protein p24 APPROVED protein-coding ENSG00000105519 HGNC:1487 00250 114212 VALIDATED 1312685 CARD10 caspase recruitment domain family, member 10 The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008] 22 22 22 q13.1 21687204 21715894 - 37886400 37915543 - 37490362 37519203 - 1580863;6480464 10591208;11259443;11356195;11387339;12477932;14702039;15125833;15184390;15489334;17101977;17724468;18349075;18676680;18757306;19112107;19913121;20237496;20628086;20695076;20800603;21078624;21139048;21307088;21406399;21890473;21906983;21963094;22615840;22884800;22992343;23000965;23608917;23708960;23771851;23893382;24018495;24443255;24633921 29775 B0QYC3;B0QYC4;Q9BWT7 ABBA01055469;ABBA01055470;ABBA01055471;AF086324;AK057334;AK074906;AK296176;AL022315;AMYH02038334;AMYH02038335;AY028896;AY032928;BC032058;BC113659;BC117403;CH471095;CQ783738;FP325335;NM_014550 AAI13660;AAI17404;AAK26165;AAK54454;BAC11282;BAH12273;CAF86837;EAW60163;NP_055365;Q9BWT7 Hs.57973 1677728;1731327;2217104 CARD10_3578;D22S346;RH99263 BIMP1;CARMA3;MGC142219 Bcl10 binding protein and activator of NFKB;CARD-containing MAGUK 3 protein;CARD-containing MAGUK protein 3;OTTHUMP00000197888;OTTHUMP00000197889;OTTHUMP00000197890;carma 3;caspase recruitment domain-containing protein 10 APPROVED protein-coding ENSG00000100065 HGNC:16422 06233 607209 REVIEWED 1353508 CAPZA3 capping protein (actin filament) muscle Z-line, alpha 3 This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008] 12 12 12 p12.3 24036563 24037640 + 18891045 18892122 + 18738111 18739188 + 1580863;6480464 10524250;12029070;12477932;14702039;15489334;19913121;20628086;21139048;23903073;7957958 93661 Q96KX2 AB053259;ABBA01067925;AC087242;AK058174;AMYH02026127;BC016745;BG772483;CH471094;HC006864;NM_033328 AAH16745;ADZ15357;BAB61901;BAB71703;CBH19237;EAW96391;NP_201585;Q96KX2 Hs.131288 CAPPA3;Gsg3 CP-alpha-3;CapZ alpha-3;F-actin capping protein alpha-3 subunit;F-actin-capping protein subunit alpha-3;OTTHUMP00000239909;germ cell-specific protein 3 APPROVED protein-coding ENSG00000177938 HGNC:24205 12282 608722 REVIEWED 1350189 CARD14 caspase recruitment domain family, member 14 This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] 17 17 17 q25 74781528 74812042 + 78143791 78183130 + 80169992 80209331 + 1580863;6480464;7240710;8554872;8699517 11259443;11278692;11356195;12477932;14702039;15489334;16189514;16344560;18029348;19851296;20198315;20237496;21302310;22521418;22521419;22703878;23328365;23905699;24163370;24476623 79092 I3L1Z7;I3L3F1;I3L414;I3L4Q8;Q9BXL6 ABBA01015407;ABBA01015408;AC087741;AF322642;AK002138;AK054723;AK091123;AK095416;AK296762;AK309299;AMYH02034100;AMYH02034101;AMYH02034102;AX746790;AY032927;BC001326;BC018142;BU617627;CH471099;DA461380;DB314596;EU652409;NG_032778;NM_001257970;NM_024110;NM_052819;NR_047566 AAG53403;AAH01326;AAH18142;AAK54453;ACF49506;BAG59342;EAW89586;EAW89587;EAW89588;EAW89589;NP_001244899;NP_077015;NP_438170;Q9BXL6 Hs.675480;Hs.696253;Hs.735899 1707610;1710346;1773107;2157958;2219044;5015861;5015961;5016478;5024761;5037552;7185938 A005O39;CARD14_3621;D10S16;D15S1477;D8S2279;GDB:434012;RH36905;RH78492;SHGC-82425;SHGC-84620 BIMP2;CARMA2;FLJ38097;PRP;PSORS2;PSS1 CARD-containing MAGUK 2 protein;CARD-containing MAGUK protein 2;bcl10-interacting maguk protein 2;card-maguk protein 2;carma 2;caspase recruitment domain-containing protein 14 APPROVED protein-coding ENSG00000141527 HGNC:16446 06235 173200;602723;607211 REVIEWED 1320373 CAPS2 calcyphosine 2 Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008] 12 12 12 q14.1 75337122 75391273 - 75669759 75784681 - 75275979 75390922 - 6480464 11329013;1184642;11846421;12477932;14530279;14702039;15489334;23333304;23870195 84698 A2RRN2;B9A061;C9J524;F8VWP7;F8VZC3;F8W927;H7BXT1;Q9BXY5 ABBA01026470;AC091534;AC092552;AC121761;AF251056;AF351611;AK091839;AK092274;AMYH02026773;AMYH02026774;BC033860;BC056672;BC131724;BG186487;CH471054;NM_001286547;NM_001286548;NM_001286549;NM_032606;XM_005269190;XM_005269191;XM_005269192;XM_005269194;XM_006719648;XM_006719649;XM_006719650;XM_006719651 AAH56672;AAI31725;AAK34946;AAN76511;BAC03759;BAC03845;EAW97296;EAW97297;EAW97298;EAW97299;EAW97300;NP_001273476;NP_001273477;NP_001273478;NP_115995;Q9BXY5;XP_005269247;XP_005269248;XP_005269249;XP_005269251;XP_006719711;XP_006719712;XP_006719713;XP_006719714 Hs.733835 2110303 CAPS2__4508 FLJ34520;UG0636c06 OTTHUMP00000202411;OTTHUMP00000202412;OTTHUMP00000229610;calcyphosin-2;calcyphosine-2;calcyphosphine 2 APPROVED protein-coding ENSG00000180881 HGNC:16471 09659 607724 VALIDATED 1605643 CARD18 caspase recruitment domain family, member 18 ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); regulation of apoptotic process (inferred); PARTICIPATES IN NOD-like receptor signaling pathway; INTERACTS WITH cyclosporin A; 1,3-dinitrobenzene (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q22.3 102172632 102174645 - 105008448 105010461 - 105137721 105139734 - 6480464;6907045 11051551;11821383;12477932;12975309;15383541;21048031;23948415 59082 G5EA35;P57730 ABBA01039912;AF208005;AI189838;AMYH02025507;AP003181;AW295205;AY358231;BC131610;CH471065;NM_021571 AAG23528;AAI31611;AAQ88598;EAW67065;NP_067546;P57730 Hs.56279 UNQ5804 ICEBERG;ICEBERG caspase-1 inhibitor;OTTHUMP00000232068;caspase recruitment domain-containing protein 18;caspase-1 inhibitor Iceberg;pseudo-ICE protein-coding ENSG00000255501 HGNC:28861 16099 605354 VALIDATED 1314786 CAPZA1 capping protein (actin filament) muscle Z-line, alpha 1 CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 111392601 111444712 + 113162075 113214241 + 112619453 112671619 + 1580863;6480464;8554872 12470955;12477932;12480931;12488317;12690097;15489334;1602151;16054028;16130169;16196087;16344560;16678097;16710414;16987810;17353931;17620599;18321953;18457437;19056867;19322201;19615732;19725029;19738201;19922875;20697350;20876399;20884878;21139048;21145461;21566537;21572416;21800051;21822214;21890473;21906983;21963094;22070227;22268729;22505724;22623428;22706086;22863883;22939629;22990118;23000965;23084401;23184937;23398456;23537643;23545944;23874603;24332808;24550385;24654937;24816145;25027693;25036637;7665558;8125298;8639502;9119363;9331217;9354614;9803314;9828130;9852149 829 P52907 ABBA01068413;ABBA01068414;ABBA01068415;ABBA01068416;AJ227918;AK223226;AK289654;AL603832;AL929470;AMYH02001741;AMYH02001742;AMYH02001743;AMYH02001744;AMYH02001745;AMYH02001746;BC000144;BC034391;BT019364;BX648738;CH471122;CR407657;CR541819;DB233456;NM_006135;U56637 AAC00533;AAH00144;AAV38171;ABM81680;ABM84845;BAD96946;BAF82343;CAG28585;CAG46618;EAW56525;EAW56526;EAW56527;NP_006126;P52907 Hs.744974 1335693;2147819;7186593 D1S487;SHGC-75335 CAPPA1;CAPZ;CAZ1;Cap Z F-actin-capping protein subunit alpha-1;OTTHUMP00000013512;capZ alpha-1 APPROVED protein-coding ENSG00000116489 HGNC:1488 03347 601580 REVIEWED 1347618 CAPZB capping protein (actin filament) muscle Z-line, beta This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. A pseudogene of this gene is located on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Aug 2013] 1 1 1 p36.1 17992290 18138980 - 19665267 19812066 - 19338773 19485641 - 1580863;6480464 12477932;12488317;12665801;14702039;15146197;15489334;16054028;16130169;16169070;16300736;16678097;16710414;17353931;17643375;18457437;19056867;19156129;19615732;19738201;19922875;20379614;20697350;20876399;20884878;21139048;21182205;21319273;21565293;21822214;21844192;21890473;21900206;21906983;22070227;22118674;22234250;22266860;22268729;22482804;22494929;22505724;22623428;22706086;22863883;22939629;22990118;23000965;23084401;23398456;23408906;24163370;24457600;24583282;24816145;7665558;9331217;9354614 832 B1AK85;B1AK87;B1AK88;B4DWA6;P47756;Q7L4N0 ABBA01059758;ABBA01059759;AI799520;AK022336;AK125085;AK126650;AK301442;AK313113;AL035413;AL359199;AL445163;AMYH02000421;BC008095;BC012305;BC024601;BC069031;BC107752;BC109241;BC109242;BE870234;BQ009850;BQ773230;BT019470;BT019471;BX647941;CB267021;CH471134;CN273493;EB387955;HY021163;KF495883;NG_029551;NM_001206540;NM_001206541;NM_001282162;NM_004930;U03271;XM_006710938 AAA87395;AAH08095;AAH24601;AAI07753;AAI09242;AAI09243;AAV38277;AAV38278;BAG35935;BAG54137;BAG62968;EAW94888;EAW94889;EAW94890;EAW94891;NP_001193469;NP_001193470;NP_001269091;NP_004921;P47756;XP_006711001 Hs.432760 1659692;1692476;1699622;1758113;1758595;1760063;1781692;1846602;2117682;2140050;5020948;5022450 AL009488;AL033889;D10S275;D1S1674;G35510;RH103414;SHGC-107611;SHGC-147427;SHGC-148894;SHGC-155098;SHGC-175;SHGC-74331 CAPB;CAPPB;CAPZ;Cap Z;DKFZp686K0524;FLJ12274;FLJ44693;MGC104401;MGC129749;MGC129750 F-actin capping protein beta subunit;F-actin-capping protein subunit beta;OTTHUMP00000002652;OTTHUMP00000002653;OTTHUMP00000002654;OTTHUMP00000002656;OTTHUMP00000002657;capZ beta APPROVED protein-coding ENSG00000077549 HGNC:1491 11872 601572 REVIEWED 1319685 CARD11 caspase recruitment domain family, member 11 The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008] 7 7 7 p22 2914379 3052190 - 2945709 3083579 - 2906075 3043945 - 1580863;6480464;6907045;8699517;8554872;7240710 11259443;11278692;11356195;12154356;12154360;12356734;12477932;12690205;14673152;14702039;14739370;15122200;15125833;15184390;15541657;15802604;16301747;16356855;16356856;16508008;16520020;16809782;16825666;17047224;17287217;17293856;17363905;17428801;17468049;18231929;18323416;18625728;18806265;19104039;19444310;19706536;19815501;20008554;20164171;20237496;20544211;20799731;21157432;21172665;21176849;21266526;21513986;21569705;21900206;21905497;22075698;22303480;22371397;22397314;22411628;22528498;22808296;23027925;23042114;23128233;23129749;23149938;23218918;23264041;23322406;23374270;23545653;23632891;23690623;24074955;24465689;24548923;25001930;8889549;9847074 84433 E2QRC0;H7BY05;Q8TES3;Q9BXL7 AA194010;AA594170;ABBA01039390;ABBA01039391;ABBA01039392;ABBA01039393;ABBA01039394;AC004906;AC024028;AC092689;AF322641;AF352576;AK074049;AK097139;AMYH02015085;AMYH02015086;AMYH02015087;AW139089;BC111719;CH236953;CH471144;HY086990;NG_027759;NM_032415;XM_006715794;XM_006715795;XM_006715796 AAG53402;AAI11720;AAL34460;AAQ96893;BAB84875;EAL23962;EAW87276;EAW87277;EAW87278;EAW87279;NP_115791;Q9BXL7;XP_006715857;XP_006715858;XP_006715859 Hs.648101 1336846;1771574;2119980;2166791;2217106;5022651;7185207 CARD11_3630;D11S2921;D7S2484;G09444;GDB:1318525;RH65749 BIMP3;CARMA1;IMD11;MGC133069;PPBL;carma 1 BENTA;CARD-containing MAGUK protein 1;OTTHUMP00000024641;bcl10-interacting maguk protein 3;card-maguk protein 1;caspase recruitment domain-containing protein 11 APPROVED protein-coding ENSG00000198286 HGNC:16393 06234 606445;607210;615206 REVIEWED 1350794 CAPZA2 capping protein (actin filament) muscle Z-line, alpha 2 The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008] 7 7 7 q31.2-q31.3 111310094 111366812 + 116502533 116559315 + 116862509 116919259 + 1580863;6480464 12029070;12470955;12477932;12665801;12690205;12853948;15489334;1602151;16054028;17353931;17567994;17620599;18029348;18624398;19056867;19322201;20697350;20876399;21139048;21822214;21890473;21906983;21963094;22505724;22863883;23000965;23398456;24250222;24816145;7665558;8125298;9331217 830 A4D0V4;C9J7V0;C9JCZ4;C9JUG7;F8W9N7;F8WED3;P47755 ABBA01057804;ABBA01057805;AC002543;AK222989;AK223004;AK293405;AK294409;AK311406;AK314808;AK315915;AMYH02016629;AMYH02016630;AMYH02016631;AMYH02016632;AMYH02016633;AMYH02016634;BC005338;BC015963;BI553815;BT006735;BX386541;CH236947;CH471070;DQ655955;DQ655956;KF458568;KF458578;NM_006136;U03269;U03851 AAA88848;AAC00534;AAC60382;AAH05338;AAP35381;BAD96709;BAD96724;BAG37333;BAG56912;BAG57661;BAH14286;EAL24358;EAW83512;EAW83513;EAW83514;EAW83515;NP_006127;P47755 Hs.446123 1654383;1672294;1704860;1711748;1711750;1711752;1800042;1801352;1802710;1802712;1804482;1804818;1804864;1805446;1805650;1808304;1809008;1810454;1814754;1814830;1814978;1817200;1820110;1820464;1821304;1822074;1823038;1823916;1826566;1827024;1830604;1831148;1831412;1833574;1833620;1834536;1834538;1834720;1834770;1834810;1835134;1835880;1836126;1836176;1836900;1837694;1837942;1841184;1841414;1841480;1841544;1841738;1843134;1843580;1844204;1845294;1845296;1845556;1845558;1845836;1853278;1989030;1989032;1989034;1989036;1989038;1989040;1989042;1989044;1989046;1989048;1989050;1989052;1989054;1989056;1989058;1989060;1989062;1989064;1989066;1989068;1989070;1989072;1989074;1989076;1989078;1989080;1989082;1989084;1989086;1989088;1989090;1989092;1989094;1989096;1989098;1989100;1989102;1989104;1989106;1989108;1989110;1989112;1989114;1989116;1989118;1989120;1989122;1989124;1989126;1989128;1989130;1989132;1989134;1989136;1989138;1989140;1989142;1989144;1989146;1989148;1989150;1989152;1989154;1989156;1989158;1989160;1989162;1989164;1989166;1989168;1989170;1989172;1989174;1989176;1989178;1989180;1989182;1989184;1989186;1989188;1989190;1989192;1989194;1989196;1989198;1989200;1989202;1989204;1989206;1989208;1989210;1989212;1989214;1989216;1989218;1989220;1989222;1989224;1989226;1989228;1989230;1989232;1989234;1989236;1989238;1989240;1989242;1989244;1989246;1989248;1989250;1989252;1989254;1989256;1989258;1989260;1989262;1989264;1989266;1989268;1989270;1989272;1989274;1989276;1989278;1989280;1989282;1989284;1989286;1989288;1989290;1989292;1989294;1989296;1989298;1989300;1989302;1989304;1989306;1989308;1989310;1989312;1989314;1989316;1989318;1989320;1989322;1989324;1989326;1989328;1989330;1989332;1989334;1989336;1989338;1989340;1989342;1989344;1989346;1989348;1989350;1989352;1989354;1989356;1989358;1989360;1989362;1989364;1989366;1989368;1989370;1989372;1989374;1989376;1989378;1989380;1989382;1989384;1989386;1989388;1989390;1989392;1989394;1989396;1989398;1989400;1989402;1989404;1989406;1989408;1989410;1989412;1989414;1989416;2093740;2093742;2093744;2093746;2093748;2093750;2093752;2093754;2093756;2093758;2093760;2093762;2093764;2093766;2093768;2093770;2093772;2093774;2093776;2093778;2093780;2093782;2093784;2093786;2093788;2093790;2093794;2093796;2093798;2093800;2093802;2093804;2093806;2093808;2093810;2093812;2093814;2093816;2128426;2128945;2148888;5092350 D7S2776;ECD00876;ECD01548;ECD02242;ECD02243;ECD03166;ECD03342;ECD03367;ECD03671;ECD03775;ECD05133;ECD05487;ECD06220;ECD08408;ECD08446;ECD08520;ECD09650;ECD11128;ECD11307;ECD11732;ECD12123;ECD12607;ECD13052;ECD14397;ECD14627;ECD16438;ECD16710;ECD16842;ECD17930;ECD17955;ECD18416;ECD18417;ECD18508;ECD18533;ECD18553;ECD18722;ECD19101;ECD19224;ECD19249;ECD19614;ECD20014;ECD20142;ECD21787;ECD21903;ECD21936;ECD21969;ECD22068;ECD22775;ECD22999;ECD23315;ECD23864;ECD23865;ECD23996;ECD23997;ECD24137;G10671;G49382;G49383;G49384;G49385;REN65419;REN65420;REN65421;REN65422;REN65423;REN65424;REN65425;REN65426;REN65427;REN65428;REN65429;REN65430;REN65431;REN65432;REN65433;REN65434;REN65435;REN65436;REN65437;REN65438;REN65439;REN65440;REN65441;REN65442;REN65443;REN65444;REN65445;REN65446;REN65447;REN65448;REN65449;REN65450;REN65451;REN65452;REN65453;REN65454;REN65455;REN65456;REN65457;REN65458;REN65459;REN65460;REN65461;REN65462;REN65463;REN65464;REN65465;REN65466;REN65467;REN65468;REN65469;REN65470;REN65471;REN65472;REN65473;REN65474;REN65475;REN65476;REN65477;REN65478;REN65479;REN65480;REN65481;REN65482;REN65483;REN65484;REN65485;REN65486;REN65487;REN65488;REN65489;REN65490;REN65491;REN65492;REN65493;REN65494;REN65495;REN65496;REN65497;REN65498;REN65499;REN65500;REN65501;REN65502;REN65503;REN65504;REN65505;REN65506;REN65507;REN65508;REN65509;REN65510;REN65511;REN65512;REN65513;REN65514;REN65515;REN65516;REN65517;REN65518;REN65519;REN65520;REN65521;REN65522;REN65523;REN65524;REN65525;REN65526;REN65527;REN65528;REN65529;REN65530;REN65531;REN65532;REN65533;REN65534;REN65535;REN65536;REN65537;REN65538;REN65539;REN65540;REN65541;REN65542;REN65543;REN65544;REN65545;REN65546;REN65547;REN65548;REN65549;REN65550;REN65551;REN65552;REN65553;REN65554;REN65555;REN65556;REN65557;REN65558;REN65559;REN65560;REN65561;REN65562;REN65563;REN65564;REN65565;REN65566;REN65567;REN65568;REN65569;REN65570;REN65571;REN65572;REN65573;REN65574;REN65575;REN65576;REN65577;REN65578;REN65579;REN65580;REN65581;REN65582;REN65583;REN65584;REN65585;REN65586;REN65587;REN65588;REN65589;REN65590;REN65591;REN65592;REN65593;REN65594;REN65595;REN65596;REN65597;REN65598;REN65599;REN65600;REN65601;REN65602;REN65603;REN65604;REN65605;REN65606;REN65607;REN65608;REN65609;REN65610;REN65611;REN65612;RH44861;SHGC-79904;STS-U03851;WI-18209;WI-18760;stSG598217;stSG598221;stSG598222;stSG598223;stSG598224;stSG598225;stSG598226;stSG598227;stSG598228;stSG598229;stSG598230;stSG598231;stSG598232;stSG598234;stSG598235;stSG598236;stSG598237;stSG598238;stSG598239;stSG598240;stSG598243;stSG598244;stSG598245;stSG598246;stSG598248;stSG598250;stSG598252;stSG598253;stSG598254;stSG598255;stSG598256;stSG598257;stSG598258;stSG598259;stSG598260;stSG598262;stSG598263;stSG598264 CAPPA2;CAPZ F-actin capping protein alpha-2 subunit;F-actin-capping protein subunit alpha-2;OTTHUMP00000024803;capZ alpha-2 APPROVED protein-coding HGNC:1490 11871 601571 REVIEWED 1606185 CARD16 caspase recruitment domain family, member 16 ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); regulation of apoptotic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; aflatoxin B1; benzo[a]pyrene diol epoxide I 11 11 11 q22 102076226 102080224 - 104912053 104916051 - 105041326 105045324 - 6480464;8554872 11432859;11536016;11821383;12477932;14702039;15383541;16354923;16920334;18187620;19913121;20479761;20628086 114769 E9PQW1;Q5EG05 ABBA01039912;AF367017;AK125640;AK311902;AMYH02025506;AP001153;AY885669;BC033638;BC070196;BC104635;BC117478;BC117480;CH471065;NM_001017534;NM_052889 AAI17479;AAI17481;AAI41474;AAI48761;AAK71682;AAW78563;BAG34843;EAW67062;NP_001017534;NP_443121;Q5EG05 Hs.348365 COP;COP1;PSEUDO-ICE CARD only domain-containing protein 1;CARD only protein;CARD-only protein 1;OTTHUMP00000232049;OTTHUMP00000232050;caspase recruitment domain-containing protein 16;caspase recruitment domain-only protein 1;caspase-1 dominant-negative inhibitor pseudo-ICE;caspase-1 inhibitor COP;pseudo interleukin-1 beta converting enzyme;pseudo interleukin-1beta converting enzyme;pseudo-IL1B-converting enzyme protein-coding ENSG00000204397 HGNC:33701 16740 615680 VALIDATED 1605176 CARD17 caspase recruitment domain family, member 17 ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); regulation of apoptotic process (inferred); FOUND IN cytoplasm (inferred) 11 11 11 q22.3 102127380 102136342 - 104963196 104972158 - 105092469 105101431 - 15383541;23897914 440068 Q5XLA6 ABBA01039912;AMYH02025507;AP001153;AY761064;CH471065;NM_001007232 AAI46364;AAV28630;EAW67064;NP_001007233;Q5XLA6 Hs.732627 1652545 STS-N29857 INCA Inhibitory CARD;OTTHUMP00000232067;caspase recruitment domain-containing protein 17;caspase-1 inhibitor INCA;inhibitory caspase recruitment domain (CARD) protein;inhibitory caspase recruitment domain protein protein-coding ENSG00000255221 HGNC:33827 17149 609490 PROVISIONAL 1314062 CARD6 caspase recruitment domain family, member 6 This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008] 5 5 5 p13.1 40730018 40744065 + 40841410 40855456 + 40841308 40855354 + 1580863;6480464;6907045;8554872 12477932;12775719;16418290;16582588;17081983;20025480;21890473 84674 Q6XZE5;Q9BX69 AB209844;ABBA01024225;ABBA01024226;AC008810;AC026732;AF356193;AK304349;AMYH02011215;AY196783;BC093825;CH471119;KF459590;NM_032587 AAH93825;AAK32718;AAP40637;BAD93081;BAG65193;EAW56006;NP_115976;Q9BX69 Hs.200242 2106455 CARD6_3632 CINCIN1 CARD-containing inhibitor of Nod1 and Cardiak-induced NF-kB activation;OTTHUMP00000120002;caspase recruitment domain protein 6;caspase recruitment domain-containing protein 6 APPROVED protein-coding ENSG00000132357 HGNC:16394 09871 609986 REVIEWED 732385 CARD9 caspase recruitment domain family, member 9 The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 109773344 109783069 - 139258408 139268133 - 136363956 136373681 - 1299399;1580863;6480464;6907045;7240710;8554872;8699517 11053425 11259443;12477932;14702039;15164053;15489334;16189514;17187069;17936701;18439550;19809088;19864672;19915572;20228799;20237496;20463747;21102463;21297633;21425313;21436691;21743469;21881131;21985303;22013052;22423967;22936669;23017229;23128233;23251661;24018495;24068945;24131138;24231284;24334645;24722188;24777530 64170 Q9H257 ABBA01022705;AF311287;AK024001;AK127481;AK292081;AK295647;AK309043;AL592301;AMYH02021900;BC008877;BC035805;BI524042;BM148244;CH471090;NG_021197;NM_052813;NM_052814 AAG28790;AAH08877;ABM84452;ABW03582;BAB14766;BAF84770;BAG58517;EAW88219;EAW88220;EAW88221;EAW88222;EAW88223;EAW88224;NP_434700;NP_434701;Q9H257 Hs.694071 CANDF2;hCARD9 OTTHUMP00000022569;OTTHUMP00000022571;caspase recruitment domain protein 9;caspase recruitment domain-containing protein 9 APPROVED protein-coding ENSG00000187796 HGNC:16391 06236 212050;607212 REVIEWED 733909 CARHSP1 calcium regulated heat stable protein 1, 24kDa ENCODES a protein that exhibits mRNA 3'-UTR binding; INVOLVED IN regulation of mRNA stability (ortholog); FOUND IN extracellular vesicular exosome; cytoplasmic exosome (RNase complex) (ortholog); cytosol (ortholog); INTERACTS WITH (-)-demecolcine; 5-aza-2'-deoxycytidine; calcitriol 16 16 16 p13.2 9113576 9129635 - 8946799 8962869 - 8852942 8869012 - 1299427;6480464 9712905 11842224;12107410;12477932;12801884;14702039;15302935;15489334;15910284;16083285;16169070;16344560;16964243;17081983;21078874;21139048;21177848;21890473;21900206;21990353;22939629;8889548 23589 H3BNU9;H3BPY5;H3BQY0;H3BSW7;H3BTK3;H3BUY4;I3L3X8;Q9Y2V2 ABBA01019732;AC022167;AF115345;AK093698;AK311777;AMYH02031409;AMYH02031410;BC000782;BC001333;BC003366;BC108283;BM693675;BM920489;BQ004670;CA396216;CH471112;DA736976;DB101255;DB446945;HY005510;HY090855;NM_001042476;NM_001278260;NM_001278261;NM_001278262;NM_001278263;NM_001278264;NM_001278265;NM_001278266;NM_014316;XM_005255228;XM_005255229 AAD25021;AAH03366;AAI08284;ACE86631;ACE87313;BAG34720;EAW85196;EAW85197;EAW85198;EAW85199;NP_001035941;NP_001265189;NP_001265190;NP_001265191;NP_001265192;NP_001265193;NP_001265194;NP_001265195;NP_055131;Q9Y2V2;XP_005255285;XP_005255286 Hs.632184 1767254;1849818;2109107;2163501;5014051;5014740;5021872;5022578;5022651;5118444 A005C19;CARHSP1_9377;D11S2921;D11S3316;D17S610;D1S1423;D8S2278;RH70769;STS-W72753;sY3084 CRHSP-24;CSDC1;MGC111446 OTTHUMP00000160107;calcium regulated heat stable protein 1;calcium-regulated heat stable protein 1;calcium-regulated heat-stable protein (24kD);calcium-regulated heat-stable protein of 24 kDa protein-coding ENSG00000153048 HGNC:17150 08515 VALIDATED 1351599 CARD8 caspase recruitment domain family, member 8 The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] 19 19 19 q13.33 45576569 45624446 - 48711343 48759203 - 48208086 48255946 - 1580863;5490210;6480464;6907045 19302047 10231032;11408476;11551959;11821383;11956601;12067710;12477932;12775719;15030775;15489334;16712791;16796750;17030188;17484912;17595233;17878386;18092344;18212821;18263599;18311798;18841008;19074885;19252766;19319132;19322201;19443463;19664744;19843337;19940360;20182451;20379614;20385562;20453000;20800603;21248762;21308686;21621776;22087307;22128899;22227487;23053059;23088220;23506543;23507658;23547871;23563199;23611467;23695559;24098386;24250222;24385277 22900 B7Z7N9;E5RFI5;E5RFV9;E5RGC9;E5RGG3;E5RHJ3;E5RHZ3;E5RIN1;E5RJG3;H0YB90;H0YBW7;I6L9C6;Q9Y2G2 AB023172;ABBA01033008;AC008392;AC011466;AF143869;AF322184;AF331519;AF405558;AF511652;AI040349;AK297045;AK297069;AK302327;AK311077;AK311079;AMYH02036289;AX089767;AY026322;BC034564;BC041697;BC045539;BC046136;BC056891;BX641091;BX648568;CA448628;CB119078;CH471177;DC404273;EU118120;EU118121;EU118122;NG_029574;NM_001184900;NM_001184901;NM_001184902;NM_001184903;NM_001184904;NM_014959;NR_033678;NR_033679;NR_033680;XM_006723091;XM_006723092;XM_006723093;XM_006723094;XM_006723095;XM_006723096;XM_006723097;XM_006723098;XM_006723099;XM_006723100;XM_006723101;XM_006723102;XM_006723103;XM_006723104;XM_006723105;XM_006723106;XM_006723107;XM_006723108;XM_006723109;XM_006723110;XR_430193 AAG50014;AAH45539;AAH56891;AAK01126;AAK08982;AAL02427;AAM46959;ABW96891;ABW96892;ABW96893;BAA76799;BAH12482;BAH12488;BAH13675;CAC34902;CAE46043;EAW52319;EAW52320;EAW52321;EAW52322;EAW52323;EAW52324;EAW52325;NP_001171829;NP_001171830;NP_001171831;NP_001171832;NP_001171833;NP_055774;Q9Y2G2;XP_006723154;XP_006723155;XP_006723156;XP_006723157;XP_006723158;XP_006723159;XP_006723160;XP_006723161;XP_006723162;XP_006723163;XP_006723164;XP_006723165;XP_006723166;XP_006723167;XP_006723168;XP_006723169;XP_006723170;XP_006723171;XP_006723172;XP_006723173 Hs.446146;Hs.655940 1672611;1672613;1847412;2118115;2132097;5016478;5021228;5024761 D19S1010;D19S1113;GDB:312794;GDB:434012;RH16607;RH36905;SHGC-33567;WI-14251 DKFZp779L0366;FLJ18119;FLJ18121;KIAA0955;MGC57162;NDPP;NDPP1 CARD inhibitor of NF-kappaB-activating ligands;CARDINAL;DACAR;Dakar;OTTHUMP00000228260;OTTHUMP00000228262;OTTHUMP00000228264;OTTHUMP00000228265;OTTHUMP00000228267;OTTHUMP00000228271;OTTHUMP00000228272;OTTHUMP00000228273;TUCAN;apoptotic protein NDPP1;caspase recruitment domain-containing protein 8;tumor up-regulated CARD-containing antagonist of CASP9;tumor up-regulated CARD-containing antagonist of caspase nine APPROVED protein-coding ENSG00000105483 HGNC:17057 16425 609051 REVIEWED 1315654 CARF calcium responsive transcription factor ENCODES a protein that exhibits DNA binding; sequence-specific DNA binding transcription factor activity; INVOLVED IN cellular response to calcium ion; cellular response to potassium ion; positive regulation of transcription from RNA polymerase II promoter in response to calcium ion; FOUND IN nucleus (ortholog); INTERACTS WITH aflatoxin B1; cobalt dichloride; disodium selenite 2 2 2 q33.2 197529656 197603774 + 203776978 203851060 + 202912218 202986485 + 1580863;6480464 11586298;11832226;12154087;12477932;14702039;15489334;15815621;16189514;16344560;18555516;21832049;22446626;8125298 79800 B4DIA7;B4DIN8;B7ZAW7;C9JBK9;C9JCD6;C9JI92;C9JL40;C9JN29;C9JSN4;C9JT99;C9JZ91;C9JZI6;C9K063;F6SXV3;F8WC01;F8WDH0;F8WDW1;Q8N187 AB053309;AB053310;ABBA01062591;ABBA01062592;AC010900;AF454946;AK022737;AK025232;AK225218;AK295499;AK295703;AK299366;AK304014;AK308171;AK310640;AK316432;AL834188;AMYH02005584;AMYH02005585;AMYH02005586;AV751848;AY032876;BC021999;BC033777;CH471063;CK825814;DA405623;DB094349;NM_001104586;NM_001282910;NM_001282911;NM_001282912;NM_024744;XM_005246858;XM_005246859;XM_005246860;XM_005246863;XM_005246864;XM_006712757;XM_006712758;XM_006712759;XM_006712760 AAH33777;AAK66819;AAL62330;AAY24288;ABM82274;ABM85454;BAB15088;BAB69018;BAB69019;BAG58419;BAG58550;BAG61358;BAG64929;BAH14803;CAD38882;EAW70320;EAW70321;EAW70322;EAW70323;EAW70324;NP_001098056;NP_001269839;NP_001269840;NP_001269841;NP_079020;Q8N187;XP_005246915;XP_005246916;XP_005246917;XP_005246920;XP_005246921;XP_006712820;XP_006712821;XP_006712822;XP_006712823 Hs.444982 1720579;1727833;1728863;2106419;2173767;5015961;5037552 ALS2CR8__4290;D15S1477;D8S2279;G31883;G54493;G59244;G63182 ALS2CR8;DKFZp667N246;FLJ12675;FLJ21579;NYD-SP24 OTTHUMP00000205931;OTTHUMP00000205969;OTTHUMP00000205971;OTTHUMP00000205972;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein;calcium-response factor;calcium-responsive transcription factor;testis development protein NYD-SP24 APPROVED protein-coding ENSG00000138380 HGNC:14435 10464 607586 VALIDATED 2301770 CARNS1 carnosine synthase 1 CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010] 11 11 11 q13.2 64516258 64526190 + 67183149 67193078 + 67415678 67425607 + 6907045 10718198;12421765;12477932;20097752 57571 A5YM72 AB037815;ABBA01024034;AK289938;AK294035;AK295331;AMYH02024996;AP003419;AX405915;BC036557;CH471076;EF560746;NM_001166222;NM_020811;XM_005274125 A5YM72;AAH36557;ABQ59056;BAA92632;BAF82627;BAG57387;BAG58305;CAD35022;EAW74617;NP_001159694;NP_065862;XP_005274182 Hs.502982 1852157;2183221;5014053 D1S3693;RH41924;RH78502 ATPGD1;KIAA1394 ATP-grasp domain containing 1;ATP-grasp domain-containing protein 1;OTTHUMP00000236403;OTTHUMP00000236404 APPROVED protein-coding ENSG00000172508 HGNC:29268 613368 VALIDATED 1344005 CARM1P1 coactivator-associated arginine methyltransferase 1 pseudogene 1 9 9 9 p24.2 2861811 2971689 - 2943562 3053404 - 2943562 3053404 - 24058526 100130873 ABBA01065434;ABBA01065435;ABBA01065436;AL359077;AMYH02019056;AMYH02019057;AMYH02019058;AMYH02019059;NG_009935 1340158;1660898;1788410 D9S54;RH65521;fb73h01.x1 CARM1L;KIAA0020 APPROVED pseudo HGNC:23392 INFERRED 5683648 CARS-AS1 CARS antisense RNA 1 p15.4 14702039 100852407 AC108448;AC131971;AK093033 Hs.274873 APPROVED ncrna HGNC:40125 1601864 CARKD carbohydrate kinase domain containing ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent NAD(P)H-hydrate dehydratase activity (inferred); INVOLVED IN nicotinamide nucleotide metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH copper(2+) sulfate; tert-butyl hydroperoxide; zinc atom 13 13 13 q34 92114056 92138392 + 111267807 111292343 + 110615460 110639996 + 6480464;8554872 11042152;12477932;14702039;16344560;20379614;20877624;21906983;24611804;8125298 55739 B4DQR1;B7Z3Q0;Q8IW45 ABBA01026993;AF091088;AF151071;AK001631;AK024260;AK057767;AK058043;AK091867;AK093771;AK225129;AK296227;AK296758;AK298917;AK302117;AL139385;AMYH02028713;BC005150;BC006416;BC041028;BQ955656;CH471085;DA175011;DA435066;DA815628;NM_001242881;NM_001242882;NM_001242883;NM_018210;NR_040103;NR_040104 AAC72957;AAF36157;AAH41028;BAA91797;BAB14863;BAG52761;BAG59339;BAG61023;BAG63496;BAH12286;EAX09114;EAX09115;EAX09116;EAX09117;EAX09118;EAX09119;EAX09120;EAX09121;EAX09122;EAX09123;EAX09124;EAX09125;NP_001229810;NP_001229811;NP_001229812;NP_060680;Q8IW45 Hs.408324 1737515;1768632;1847986;1848257 Cda0ch07;D13S1047;D13S1152;SHGC-37618 FLJ10769;FLJ34548;FLJ52550;LP3298 ATP-dependent (S)-NAD(P)H-hydrate dehydratase;ATP-dependent NAD(P)HX dehydratase;OTTHUMP00000018702;carbohydrate kinase domain-containing protein protein-coding ENSG00000213995 HGNC:25576 07698 615910 VALIDATED 8655500 CARSP1 cysteinyl-tRNA synthetase pseudogene 1 15 15 15 45930995 45931723 + 69041840 69042568 + 68749501 68750229 + 100420042 ABBA01038775;AC090734;AMYH02030692;NG_025389 pseudo HGNC:50477 INFERRED 8553151 CASC11 cancer susceptibility candidate 11 (non-protein coding) 8 8 q24 128698588 128746210 - 127730332 127735767 - 18794855;24594601 100270680 ABBA01037946;AC103819;AC108925;AMYH02018761;BU941073;HG501694;HG501696;JX003873;KF510301;NR_117101;NR_117102;XR_426355;XR_428403;XR_432349 Hs.333720;Hs.742336 CARLo-7;LINC00990;TCONS_00014535 ncrna HGNC:48939 VALIDATED 1348766 CASC10 cancer susceptibility candidate 10 INTERACTS WITH 3,4-dichloroaniline; aflatoxin B1; cyclosporin A 10 10 10 p12.31 21471245 21474037 - 21783421 21786213 - 21490473 21497284 - 6480464 12477932;15164054;16344560;19322201;21804547 399726 Q5T4H9 ABBA01034498;AL358780;AMYH02022419;BC040880;BC130594;BC132974;CH471072;DA401077;NM_001010911;XR_428637 AAI30595;AAI32975;EAW86170;NP_001010911;Q5T4H9 Hs.315568 C10orf114;bA418C1.3 OTTHUMP00000019273;cancer susceptibility candidate gene 10 protein;putative uncharacterized protein C10orf114 APPROVED protein-coding HGNC:31448 16574 VALIDATED 7287306 CASC14 cancer susceptibility candidate 14 (non-protein coding) 6 6 6 p22.3 23368165 23380758 - 22134831 22147422 - 22134602 22147193 - 14702039;18463370;21124317;22941191 729177 ABBA01022298;AK126168;AL008732;AL512344;AMYH02013295;H15083;HG499041;NR_034143 Hs.730673 RP1-67M12.2 ncrna ENSG00000260455 HGNC:49075 VALIDATED 1314176 CARM1 coactivator-associated arginine methyltransferase 1 This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013] 19 19 19 p13.2 10877096 10928289 + 10982253 11033453 + 10871577 10923070 + 1359044;2293206;2326123;5128512;6480464;7242552;9491823;9479047;9586721;9586718 15221992;15866169;16394250;17163421;20423833;21074527;23887673;23912631;24583552 10381882;11050077;11701890;11724789;11747826;11751582;11850402;11983685;11997499;12237300;12374746;12477932;12498683;14500758;14729568;14966289;15096520;15186775;15383283;15471871;15489334;15616592;15731352;15944154;16254053;16330542;16344550;16497732;16508003;16705743;16923966;17005681;17043108;17053781;17124247;17218272;17403666;17640894;17882261;17882262;17898714;17934343;18172323;18280497;18413343;18511550;18660489;18950845;19101556;19183483;19188441;19322201;19405910;19419866;19660582;19725955;19843527;20022955;20085233;20111005;20213728;20360387;20462455;20811636;20932315;21030982;21126607;21138967;21139048;21145461;21242974;21282336;21410432;21445011;21478268;21890473;21903422;21906983;21952734;21963094;21988832;22046437;22053931;22179613;22190034;22428544;22451921;22505724;22723830;22863532;22863883;23000965;23265702;23301034;23349634;23434684;23455924;23486015;23505388;23663560;23699174;23837869;23915145;23980157;24211191;24332853;24434208;24778252;25036637;8619474;9110174 10498 K7EIQ8;K7EK20;K7EPK1;K7EQA8;K7EQB9;K7ERM3;Q86X55 ABBA01029885;ABBA01029886;ABBA01029887;ABBA01029888;AC007565;AC011442;AF055027;AL833242;AMYH02035509;AMYH02035510;AMYH02035511;AMYH02035512;AMYH02035513;BC036886;BC046240;BC070496;BU176535;CH471106;NM_199141;XM_005259708 AAH46240;AAI56436;AAI72490;EAW84155;EAW84156;NP_954592;Q86X55;XP_005259765 Hs.323213 1657748 STS-AA004344 PRMT4 histone-arginine methyltransferase CARM1;protein arginine N-methyltransferase 4 APPROVED protein-coding ENSG00000142453 HGNC:23393 09158 603934 VALIDATED 7245365 CASC16 cancer susceptibility candidate 16 (non-protein coding) 16 16 16 q12.1 37101451 37156347 - 52585999 52640887 - 52552087 52606975 - 12477932;17529967;17529974;19304784;19330030;19398914;20054709;20213080;20332101;20406955;20453838;20585626;20872241;21263130;21779176;23001122;23535729;23535733;24143190 643714 ABBA01066476;AC026462;AMYH02032033;AX971948;BC029912;BC034767;CH471092;DB462404;DB523777;HG508078;NR_033920 CAF17056;EAW82788 Hs.662199 1701084;1719301;1769438;1787652;1856088;2117680 D16S2950;RH104169;RH123373;SHGC-156094;SHGC-60775;SHGC-60806 LINC00918;RP11-297L17.1 APPROVED ncrna ENSG00000249231 HGNC:48608 VALIDATED 1321833 CARS cysteinyl-tRNA synthetase This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010] 11 11 11 p15.5 3056003 3112501 - 3022152 3078681 - 3000922 3057451 - 1580863;6480464 10908348;11347887;12112524;12477932;14702039;15489334;15592455;16344560;17303165;18029348;19041431;19252134;19394292;20201924;20306291;20460425;20834067;21139048;21832049;21906983;21963094;22863883;24068962;24816145;7987009;8125298;8468064 833 A8MVQ3;B4DKY1;B4DPV7;C9JLN0;E9PLP0;E9PPK8;E9PRS8;P49589 AB208814;ABBA01032074;AC001228;AC108448;AC131971;AF288206;AF288207;AI432096;AI608729;AK096313;AK125503;AK126135;AK131221;AK222614;AK289432;AK295371;AK296763;AK298514;AK302644;AK308005;AMYH02024200;AU133264;BC002880;BT009913;BX647906;CH471158;DC376478;L06845;NM_001014437;NM_001194997;NM_001751;NM_139273;NR_036542;XM_006718340;XM_006718341;XM_006725129;XM_006725130;XR_428857;XR_430701 AAA73901;AAG00578;AAG00579;AAH02880;AAP88915;ABM81699;BAD92051;BAD96334;BAF82121;BAG53256;BAG58331;BAG59343;BAG60719;BAG63885;CAI46108;EAX02536;EAX02537;EAX02538;EAX02539;EAX02540;EAX02541;NP_001014437;NP_001181926;NP_001742;NP_644802;P49589;XP_006718403;XP_006718404;XP_006725192;XP_006725193 Hs.274873 1720901;1737825;2132956;2166752;5024756;5113398 A006N36;D11S3440;G59279;RH27287;RH48478;RH80030 CARS1;CYSRS;MGC:11246 OTTHUMP00000012604;OTTHUMP00000012605;OTTHUMP00000012668;cysteine tRNA ligase 1, cytoplasmic;cysteine translase;cysteine--tRNA ligase;cysteine--tRNA ligase, cytoplasmic;cysteine-tRNA ligase;cysteinyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000110619 HGNC:1493 00464 123859 REVIEWED 1605714 CARTPT CART prepropeptide This gene encodes a secreted protein which is processed by prohormone/proprotein convertases to produce smaller, biologically active peptides. Expression of the transcript for this gene is regulated by certain drugs such as cocaine, and the encoded protein is thought to be involved in the regulation of appetite and stress. Mutations in this gene are associated with susceptibility to obesity.[provided by RefSeq, Nov 2009] 5 5 5 q13.2 66910678 66912563 + 71014990 71016875 + 71719163 71721048 + 1625192;2313632;2313633;2313634;6480464;8554872 10574510;10805512;11522684;16443761 10235641;10905499;11478874;11711504;11791158;11857741;12147208;12477932;12654232;15234472;15326462;15340161;15489334;15597110;15680948;15823203;15908120;16102267;16146347;16210370;16309793;16614075;16784796;17008116;17105939;17525122;17631364;18572320;19058789;19077438;19086053;19110485;19356602;19874574;19876004;19913121;20151954;20186155;20362026;20468064;20628086;21605873;21803054;21832817;21921635;21982860;22139072;22235287;22257587;22332848;22436349;22553341;23034261;23086924;23277430;23646285;8647455;8889548;9590691 9607 Q16568 ABBA01061898;AC143336;AI417979;AMYH02011549;BC029882;CH471084;CK300473;CR542216;NG_015988;NM_004291;U16826;U20325 AAB08010;AAB08011;AAH29882;ACE86636;ACE87318;CAG47012;EAW95694;NP_004282;Q16568 Hs.1707 1655832;1655834;2113792;2166151;2218336 CART;CART_3224;D5S2377;STS-U16826;WI-19012 CART OTTHUMP00000161935;cocaine and amphetamine regulated transcript;cocaine- and amphetamine-regulated transcript protein APPROVED protein-coding ENSG00000164326 HGNC:24323 04006 602606 REVIEWED 1606504 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative) ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); INVOLVED IN gene expression (inferred); tRNA aminoacylation for protein translation (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH formaldehyde; methyl methanesulfonate; phenobarbital 13 13 13 q34 92139805 92204660 - 111293757 111358480 - 110641410 110713601 - 6480464 12477932;14702039;15057823;15489334;15779907;16344560;20379614;20877624;24654937;24816145 79587 B7Z7E6;F5H579;F5H623;H0YFF0;H0YFV1;H0YGF2;Q9HA77 AB062436;ABBA01026991;ABBA01026992;ABBA01026993;AK022180;AK091992;AK092947;AK124505;AK301907;AL139385;AL157820;AMYH02028713;BC007220;BE464542;BX648882;BX649191;CH471085;DA966145;NM_024537;XM_006719953;XR_243047;XR_243048;XR_243049;XR_243051 AAH07220;BAB13978;BAB93499;BAH13582;CAE46210;CAH10378;EAX09126;NP_078813;Q9HA77;XP_006720016 Hs.508725 1718801;1725533;1738421;1739625;2121522 D13S1213E;D13S675E;RH119165;RH123104;RH45363 DKFZp667A2315;DKFZp686G08243;FLJ12118;FLJ42514;cysRS OTTHUMP00000018707;cysteine tRNA ligase 2, mitochondrial (putative);cysteine--tRNA ligase;probable cysteine--tRNA ligase, mitochondrial;probable cysteinyl-tRNA synthetase, mitochondrial protein-coding ENSG00000134905 HGNC:25695 07763 612800 VALIDATED 8548766 CASC19 cancer susceptibility candidate 19 (non-protein coding) q24.21 24594601 103021165 AC020688;BI223175;DW435273;JX003871;NR_120364 Hs.573407 CARLo-6;LINC01245 APPROVED ncrna HGNC:49476 VALIDATED 1322554 CASC1 cancer susceptibility candidate 1 ENCODES a protein that exhibits beta-tubulin binding (inferred); microtubule binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasmic microtubule (inferred); INTERACTS WITH diethylstilbestrol; methyl methanesulfonate; benzo[a]pyrene (ortholog) 12 12 12 p12.1 30408204 30495049 - 25261223 25348096 - 25108289 25195162 - 737633;6480464;8554872 12477932 14583591;14702039;16344560;16410263;18299280;19389623;20639392;20734064;22990118;8889548 55259 B4DY27;F8W8F9;G3V2J3;G3V333;G3V3G6;H0YJM7;Q6TDU7 ABBA01068015;ABBA01068016;ABBA01068017;AC023510;AC092794;AK001783;AK093102;AK297998;AK301763;AK302235;AK304602;AMYH02026218;AMYH02026219;AY423543;BC028415;BC031047;BC047415;BC057795;BC117281;BC117283;BM979714;CH471094;DA753279;NM_001082972;NM_001082973;NM_001204101;NM_001204102;NM_018272;XM_005253406;XM_005253407;XM_005253408;XM_005253409;XM_005253410;XM_005253411;XM_006719100;XM_006719101;XM_006719102 AAH28415;AAH47415;AAH57795;AAI17282;AAI17284;AAQ93499;BAA91908;BAG52654;BAG60304;BAG63223;BAG63589;BAG65388;EAW96507;EAW96508;EAW96509;NP_001076441;NP_001076442;NP_001191030;NP_001191031;NP_060742;Q6TDU7;XP_005253463;XP_005253464;XP_005253465;XP_005253466;XP_005253467;XP_005253468;XP_006719163;XP_006719164;XP_006719165 Hs.407771 1689091;1705476;1754055;2107281;2109109;2118361;2129902;2144912;2154617 CASC1_9888;D12S1350E;LRMP_7815;RH17991;RH45039;RH92803;SHGC-132095;SHGC-83826;STS-AA005176 FLJ10921;LAS1;PPP1R54 OTTHUMP00000196569;OTTHUMP00000196570;OTTHUMP00000196571;OTTHUMP00000196572;OTTHUMP00000245368;OTTHUMP00000245369;cancer susceptibility candidate gene 1 protein;cancer susceptibility candidate protein 1;lung adenoma susceptibility 1-like protein;protein phosphatase 1, regulatory subunit 54 protein-coding ENSG00000118307 HGNC:29599 16684 VALIDATED 8548745 CASC21 cancer susceptibility candidate 21 (non-protein coding) q24.21 24594601 103021164 AC018714;AL709378;JX003867;NR_117099 Hs.571531 CARLo-2;LINC01244 ncrna HGNC:49836 VALIDATED 7494060 CASC18 cancer susceptibility candidate 18 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 12 12 106097981 106137832 + 105704203 105744063 + 8554872 14702039;23419831 101929110 AB849958;AB849959;AB849960;AB849961;AB849962;AB849963;AB849964;ABBA01053175;AC079851;AC084356;AK001551;AMYH02027120;AMYH02027121;HG505137;HG505138;NR_110108;NR_110109;NR_110110;NR_110111 Hs.145944 RP11-266E14.1 ncrna ENSG00000257859 HGNC:49463 VALIDATED 5467112 CASC15 cancer susceptibility candidate 15 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (+)-catechin 6 6 6 p22.3 22900001 23427935 + 21666675 22194629 + 21666444 22194400 + 8554872 12477932;14702039;16543943;18463370;21124317;21946350;22941191;23284291 401237 ABBA01022283;ABBA01022284;ABBA01022285;ABBA01022286;ABBA01022287;ABBA01022288;ABBA01022289;ABBA01022290;ABBA01022291;ABBA01022292;ABBA01022293;ABBA01022294;ABBA01022295;ABBA01022296;ABBA01022297;ABBA01022298;AF086455;AK022865;AK026189;AK094718;AK096633;AK300802;AK310212;AL008732;AL136179;AL136313;AL160260;AL161436;AL359694;AL512344;AMYH02013279;AMYH02013280;AMYH02013281;AMYH02013282;AMYH02013283;AMYH02013284;AMYH02013285;AMYH02013286;AMYH02013287;AMYH02013288;AMYH02013289;AMYH02013290;AMYH02013291;AMYH02013292;AMYH02013293;AMYH02013294;AMYH02013295;BC044235;HG499036;HG499037;HG499038;KF458110;KF458112;KF510947;NR_015410 BAG62460 Hs.712707 1336201;1337435;1338975;1339844;1644279;1650282;1660886;1662730;1667727;1674527;1674934;1694192;1706088;1710984;1715641;1715803;1717755;1722789;1722923;1723123;1732007;1732009;1768908;1786032;1788820;1788824;1788852;1788872;1788912;1850354;2112234;2153451;2157375;2162535;2184393;2184697;5016781;5022651 A004M23;AL008737;D11S2921;D6S1029;D6S1501;D6S1588;D6S1597;D6S1686;D6S2148;D6S2250;D6S506;D6S507;G17038;G60336;G60558;G67600;G67601;G67602;G67603;G67604;RH119266;RH119598;RH121785;RH123746;RH15831;RH46644;RH46729;RH64859;RH66723;SGC36817;SHGC-155368;SHGC-30550;SHGC-67307;SHGC-80081;SHGC-84864;WI-12018;WI-13536;WI-18694 FLJ12803;FLJ17254;FLJ22536;FLJ51318;LINC00340 APPROVED ncrna ENSG00000272168 HGNC:28245 PREDICTED 8694055 CASC23 cancer susceptibility candidate 23 (non-protein coding) p15.4 103581031 AC116456;BC027619;NR_125366 Hs.249366 LINC01464 ncrna HGNC:50865 VALIDATED 1349507 CASC2 cancer susceptibility candidate 2 (non-protein coding) 10 10 10 q26.11 113536133 113700235 + 119806332 119969665 + 118046821 118210153 + 12477932;14702039;15024726 255082 Q6XLA1;Q8IU53 ABBA01062935;ABBA01062936;AC005879;AC022395;AI219353;AJ344228;AJ535620;AJ535621;AJ535622;AK055184;AMYH02023891;AMYH02023892;AMYH02023893;AY226450;AY226451;BC036393;BC112306;BC112308;BC112326;CH471066;HG503298;HG503300;HG503302;KF510331;NR_026939;NR_026940;NR_026941 AAP48615;CAC83044;CAD59605;CAD59606;CAD59607;EAW49419;EAW49420;EAW49421;EAW49422;Q6XLA1;Q8IU53 Hs.89387 1334689;1338553;1654197;1678005;1683553;1722489;1723329;1766733;1770153;1779258;1781232;1846943;2110305;2142524;2179294 CASC2__4511;D10S1236;D10S190;G60168;RH118480;RH44845;RH45265;RH91959;RH93245;SHGC-152014;SHGC-153065;SHGC-35089;U64663;U75536;stSG68076 C10orf5;MGC117219 APPROVED ncrna ENSG00000177640 HGNC:22933 12266 608598 VALIDATED 7267115 CASC17 cancer susceptibility candidate 17 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 17 17 q24.3 69000585 69198320 - 71097774 71202179 - 8554872 12477932;17603485;18264097;19767753;21743057;23284291 101928165 ABBA01028912;ABBA01028913;AC005273;AMYH02033914;BC039327;BI459971;HG509385;NR_104152 Hs.407613 LINC00600;RP11-879D6.1 ncrna ENSG00000260785 HGNC:43911 VALIDATED 5488961 CASC4P1 cancer susceptibility candidate 4 pseudogene 1 13 13 20131972 20139336 - 19557832 19565196 - 100420689 ABBA01068556;AL359457;AMYH02027616;NG_024833 pseudo HGNC:39251 INFERRED 7771871 CASC20 cancer susceptibility candidate 20 (non-protein coding) 20 20 6407379 6509106 + 6426732 6528459 + 8619474;9110174 101929244 ABBA01053903;ABBA01053904;ABBA01053905;AL121911;AL162504;AMYH02036661;AMYH02036662;AY007089;HG511158;NR_109953 Hs.542488 RP11-199O14.1 ncrna ENSG00000229876 HGNC:49477 VALIDATED 1353876 CASC3 cancer susceptibility candidate 3 The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008] 17 17 17 q21.1 34957057 34988947 + 38296507 38328431 + 40140254 40172178 + 1580863;6480464;6907045 11980659;12080473;12477932;12843282;14702039;14973490;15166247;15489334;15680326;16170325;16314458;16344560;16495234;16601204;16923391;16931718;17081983;17652158;18029348;18332872;19322201;19410547;21139048;21145461;21327427;21906983;21988832;22094256;22190034;23084401;23530232;24457600;24816145;7490069 22794 B4DKR6;J3KSY7;J3QSC4;K7EQ38;O15234 ABBA01031840;ABBA01031841;ABBA01031842;AC068669;AK096126;AK292425;AK296682;AK310635;AMYH02033394;AMYH02033395;BC030008;BC044656;BC050526;CA427444;CH471152;DB082647;NM_007359;X80199;XM_005257163 AAH44656;AAH50526;BAF85114;BAG59278;CAC27699;EAW60643;EAW60644;NP_031385;O15234;XP_005257220 Hs.743287 1734450;1734474;1770838;1770840;2114988 A002D45;D17S1417E;D17S1436E;G19968;SGC31792 BTZ;MLN 51;MLN51 OTTHUMP00000164448;barentsz;cancer susceptibility candidate gene 3 protein;metastatic lymph node 51;metastatic lymph node gene 51 protein APPROVED protein-coding ENSG00000108349 HGNC:17040 16225 606504 REVIEWED 7247327 CASC9 cancer susceptibility candidate 9 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 q21.11 76135352 76190716 - 75223117 75278481 - 8554872 12477932;15146197;21130836 101805492 ABBA01041992;ABBA01041993;AC022274;AI205540;AMYH02018240;AMYH02018241;BC062758;BE866214;CN273839;CN418510;CX870402;NR_103848;NR_103849;NR_103850 Hs.571424 LINC00981 ncrna HGNC:48906 VALIDATED 7264882 CASC6 cancer susceptibility candidate 6 (non-protein coding) 6 6 q15 92338758 92400146 - 91629040 91690428 - 12477932 101929083 ABBA01040566;AL132766;AMYH02014110;BC037927;HG499449;KF458221;NR_104154 Hs.586238 RP3-433F14.3 ncrna HGNC:49076 VALIDATED 1603284 CASC4 cancer susceptibility candidate 4 The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010] 15 15 15 q15.3 21470694 21597720 + 44580909 44707959 + 44288616 44415761 + 6480464 10497265;12477932;12764679;12845212;12975309;14702039;15604093;16344560;17207965;19322201;21832049 113201 H0YKJ7;H0YM51;H0YMR0;H0YN36;Q6P4E1 ABBA01039208;ABBA01039209;ABBA01039210;ABBA01039211;ABBA01039212;ABBA01039213;ABBA01039214;AC025043;AC090519;AF103804;AK022565;AK095068;AK098265;AK291026;AK298564;AL832333;AL832840;AMYH02030334;AMYH02030335;AMYH02030336;AMYH02030337;AMYH02030338;AMYH02030339;AY358086;BC012124;BC041786;BC063480;BG327802;BI467176;CH471082;DB229269;NM_138423;NM_177974;XM_006720380;XM_006720381 AAH12124;AAH63480;AAQ88453;ADQ32536;BAC05272;BAF83715;BAG60758;EAW77257;EAW77258;EAW77259;EAW77260;EAW77261;EAW77262;EAW77263;EAW77264;NP_612432;NP_816929;Q6P4E1;XP_006720443;XP_006720444 Hs.512867 1650321;1682093;2119421;2156903;5014051;5020948;5024761;5037552;5109396;5127223 D15S628E;D8S2278;D8S2279;G17838;G35510;RH27235;RH36905;RH47707;SHGC-58376;STS-AA016055 DKFZp459F1927;H63;MGC74708 OTTHUMP00000161778;OTTHUMP00000161779;cancer susceptibility candidate gene 4 protein;gene associated with HER-2/neu overexpression APPROVED protein-coding ENSG00000166734 HGNC:24892 11018 REVIEWED 6481396 CASK-AS1 CASK antisense RNA 1 p11.4 100873928 AA961433;AL445239;BE463818;HG512502 Hs.495984 APPROVED ncrna HGNC:40126 7247421 CASC7 cancer susceptibility candidate 7 (non-protein coding) q24.3 12477932;14702039 286109 AK092172;BC033700 Hs.660189;Hs.743313 LINC00980 long intergenic non-protein coding RNA 980 protein-coding HGNC:48905 7247384 CASC8 cancer susceptibility candidate 8 (non-protein coding) 8 8 8 q24.21 124635547 124674165 - 128455595 128494384 - 127443350 127482139 - 16682969;17401363;17401366;18372901;19767754;24594601 727677 ABBA01037942;ABBA01037943;AC016883;AC018714;AMYH02018756;AMYH02018757;DQ515896;DQ515897;DQ515898;DQ515899;HG501690;HG501692;JX003864;JX003865;JX003866;KF458846;KF510300;KF511063;NR_024393;NR_117100;XR_252473;XR_428402 Hs.673248;Hs.736625 CARLo-1;LINC00860;RP11-382A18.1 ncrna ENSG00000246228 HGNC:45129 VALIDATED 1603976 CASC5 cancer susceptibility candidate 5 The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013] 15 15 15 q14 17654336 17722770 + 40886447 40954881 + 40594249 40662683 + 6480464;7240710;8699517;8554872 10780384;10980622;10997877;12087463;12477932;12618766;12618768;15231748;15371340;15502821;15579588;15824131;16565220;16622420;17081983;17981135;18029348;18045986;18771174;19141287;19389623;19471022;20220147;20231380;20231385;20301772;20360068;21139048;21199919;21272090;21693764;21906983;21963094;22000412;22193957;22505724;22660415;22983954;23667531;24250222;24344183;24344188;24361068;24363448;24816145;8700511 57082 E9PPJ1;H0YCZ2;H0YEY7;H0YN41;Q8NG31 AB022190;AB046790;ABBA01038440;ABBA01038441;ABBA01038442;AC022405;AF173994;AF248041;AF461041;AK307605;AK307996;AMYH02030244;AMYH02030245;BC014306;BC029373;BC043597;BQ776141;CH471125;NG_033114;NM_144508;NM_170589;U52052 AAF97513;AAH29373;AAI72422;AAL67803;AAM45143;BAB13396;BAC05691;EAW92429;EAW92430;NP_653091;NP_733468;Q8NG31 Hs.181855 1335756;1654801;1670284;1688636;1712761;1718487;2111264;2152406 D15S506;D20S867;RH120094;RH122445;RH93617;SGC44363;SHGC-44363;STS-T81591 AF15Q14;CT29;D40;KIAA1570;KNL1;MCPH4;PPP1R55;Spc7;hKNL-1;hSpc105 ALL1-fused gene from chromosome 15q14 protein;OTTHUMP00000233260;OTTHUMP00000233262;OTTHUMP00000233428;blinkin, bub-linking kinetochore protein;bub-linking kinetochore protein;cancer susceptibility candidate gene 5 protein;cancer/testis antigen 29;kinetochore null 1 homolog;kinetochore-null protein 1;protein phosphatase 1, regulatory subunit 55 protein-coding ENSG00000137812 HGNC:24054 10634 604321;609173 REVIEWED 1603612 CASD1 CAS1 domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 7 7 7 q21.3 88837411 88884573 + 94138838 94186331 + 94509519 94557019 + 6480464;8554872 11528394;11703667;12477932;14702039;19322201;20947662 64921 C9JDR3;F8WDQ7;F8WDW8;Q8WZ77;Q96PB1 AB073397;ABBA01045782;AC002528;AC096662;AF355594;AF397424;AK024866;AK025532;AK123866;AK123895;AK314329;AMYH02016285;BC029543;BC050313;BC063284;CH236949;CH471091;NM_022900;XM_006716092;XM_006716093 AAB69978;AAH63284;AAK97479;AAL33538;BAB15028;BAB15163;BAE45726;BAG36976;BAG53975;EAL24136;EAW76789;EAW76790;EAW76791;EAW76792;EAW76793;NP_075051;Q96PB1;XP_006716155;XP_006716156 Hs.260041 1649659;2172634;5094402;7186332 D7S1434;G54776;STS-R16109 C7orf12;FLJ21213;FLJ21879;FLJ41901;NBLA04196 CAS1 domain-containing protein 1;O-acetyltransferase;OTTHUMP00000163031;WUGSC:H_GS542D18.2 protein-coding ENSG00000127995 HGNC:16014 13004 611686 VALIDATED 1351061 CASKIN1 CASK interacting protein 1 INVOLVED IN signal transduction (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH aflatoxin B1; cadmium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 2441604 2476669 - 2227184 2246479 - 2177183 2196476 - 632380;1580863;6480464;8554872 12040031 10718198;12477932;14968112;15032605;20881960;21763699;22153505 57524 Q8WXD9 AB037727;ABBA01030269;ABBA01030270;ABBA01030271;AC009065;AF451977;AMYH02031245;AMYH02031246;BC042011;CH471112;NM_020764;XM_005255458 AAH42011;AAL49758;BAA92544;EAW85543;EAW85544;EAW85545;NP_065815;Q8WXD9;XP_005255515 Hs.643537 1662992;1664128;1683166;1688514;1722265;1736574;1745955;1778320;2142045;2146291 AI481330;Bdac6f06;D16S2568E;G60043;RH79588;RH98228;SHGC-61344;STS-W72364;STS-W86181;WIAF-1628 ANKS5A CASK-interacting protein 1;caskin-1 protein-coding ENSG00000167971 HGNC:20879 10809 612184 VALIDATED 1344893 CASKP1 calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene 1 X Y Y q11 2035221 2053549 - 15041766 15060093 - 12929856 12948185 - 12815422 10029 ABBA01065592;ABBA01065593;AC004474;AC244434;NG_002805 1746047 G49204 CASKP APPROVED pseudo HGNC:1498 INFERRED 1320238 CASKIN2 CASK interacting protein 2 This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 17 17 17 q25.1 70090213 70105647 - 73496341 73511664 - 75500260 75515583 - 632380;1580863;6480464 12040031 10574461;12477932;15489334;15592455;16094384;16344560;17081983;19531213;21139048;21805519;24250222 57513 J3QKS3;J3QRN1;Q8WXE0 AB032965;ABBA01028787;ABBA01028788;AC100787;AF451976;AK025262;AK300354;AK315936;AMYH02033999;BC032359;BC066643;BM994645;CH471099;DA105579;DA336467;DA538297;DC318119;NG_033152;NM_001142643;NM_020753 AAH66643;AAL49757;BAA86453;BAG62095;BAH14307;EAW89278;NP_001136115;NP_065804;Q8WXE0 Hs.274408;Hs.745460 1686118;1758471;2153425 RH25408;RH71445;SHGC-148423 ANKS5B;FLJ21609;KIAA1139 CASK-interacting protein 2;caskin-2 protein-coding ENSG00000177303 HGNC:18200 09872 612185 REVIEWED 733678 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] X X X p11.4 45516432 45924508 - 41374187 41782415 - 41514934 41923155 - 734690;1580863;6480464;6484113;7240710;8554872;8699517 9722958 10455105;10460248;10749215;10856295;10993877;11003712;11036064;11120739;11356864;11377421;11679592;11742811;11880184;12006486;12040031;12093160;12110687;12151521;12151522;12202822;12351654;12477932;12511555;12522552;12641734;12676536;14627983;14702039;14960569;15024025;15066269;15123239;15231748;15331416;15673434;15694377;15729360;16637659;16688213;16842202;17287346;18423203;18629876;18664494;19019082;19125693;19165920;19200522;19322201;19523119;19615732;19736351;19781660;19847910;20006588;20029458;20623620;21139048;21590270;21735175;21763699;21855798;21890473;21906983;21954287;21988832;22389404;22452838;22709267;23165780;23406872;23443559;23543616;23600800;23602568;23864692;24250222;24278995;24722188;8786425;9225980;9546224;9660868;9660869;9753324;9822620;9952408 8573 O14936;Q5JS72;Q5JS74;Q5JS79 AB039327;AB208859;ABBA01046606;ABBA01046607;ABBA01046608;ABBA01046609;ABBA01046610;ABBA01046611;ABBA01046612;ABBA01046613;ABBA01046614;ABBA01046615;ABBA01046616;ABBA01046617;ABBA01046618;ABBA01046619;ABBA01046620;ABBA01046621;ABBA01046622;ABBA01046623;ABBA01046624;ABBA01046625;ABBA01046626;ABBA01046627;ABBA01046628;ABBA01046629;ABBA01046630;ABBA01046631;ABBA01046632;ABBA01046633;ABBA01046634;ABBA01046635;ABBA01046636;ABBA01046637;ABBA01046638;ABBA01046639;ABBA01046640;ABBA01046641;ABBA01046642;ABBA01046643;ABBA01046644;ABBA01046645;ABBA01046646;ABBA01046647;ABBA01046648;ABBA01046649;ABBA01046650;ABBA01046651;ABBA01046652;ABBA01046653;ABBA01046654;ABBA01046655;ABBA01046656;ABBA01046657;AF032119;AF035582;AF262404;AF262405;AK025872;AK056476;AK313399;AL158144;AL353691;AL445239;AL603754;AL627402;AMYH02039216;AMYH02039217;AMYH02039218;AMYH02039219;AMYH02039220;AY705392;BC029936;BC035990;BC117311;BC143454;BC143456;CH471141;DN993605;KF459071;KF459072;NG_016754;NM_001126054;NM_001126055;NM_003688;XM_005272686;XM_006724565;XM_006724566 AAB88125;AAB88198;AAF72666;AAF72667;AAI17312;AAI43455;AAI43457;AAU10527;ADR83272;BAB12252;BAD92096;EAW59390;EAW59391;EAW59392;EAW59393;NP_001119526;NP_001119527;NP_003679;O14936;XP_005272743;XP_006724628;XP_006724629 Hs.495984 1336894;1659736;1667537;1671790;1677128;1688354;1701874;1702962;1711828;1732415;1787294;1791075;1797626;1797658;1848730;1855503;2106969;2159637;2177132 CASK__4512;DXS1387;DXS1392;DXS1694;DXS8113;G49441;GPR34_2219;GPR82_2567;L77315;RH17463;RH27222;RH68671;RH69317;RH78452;RH98899;SHGC-146100;SHGC-35026;SHGC-35951;UniSTS:256961 CAGH39;CMG;FGS4;FLJ22219;FLJ31914;LIN2;MICPCH;MRXSNA;TNRC8;hCASK CAMGUK;OTTHUMP00000023157;OTTHUMP00000023159;OTTHUMP00000023160;OTTHUMP00000023161;OTTHUMP00000023162;OTTHUMP00000226872;calcium/calmodulin-dependent serine protein kinase;calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase;peripheral plasma membrane protein CASK;protein lin-2 homolog;trinucleotide repeat containing 8 APPROVED protein-coding ENSG00000147044 HGNC:1497 02164 300172;300422;300749 REVIEWED 735988 CASP1 caspase 1, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012] 11 11 11 q23 102060400 102070022 - 104896235 104905884 - 105025508 105035190 - 1580863;1300048;2293624;2315884;2298754;2315887;2315889;2315890;2315892;2315913;2315919;2315886;2315888;2315917;2315883;5130192;4889574;5130181;5130182;5130189;5130187;5490211;5490210;6480464;6484113;6907045 10557324;11221855;12396474;15196254;16333955;16557226;16886979;17188500;17278232;17303764;17375183;17384935;17845807;18367607;18398369;19265174;19302047;19362023;19853379;20303873;20974310 10069390;10329646;10353249;10438581;10477277;10510468;10660263;10708425;10799503;11085743;11226410;11374873;11390368;11432859;11437653;11438643;11472070;11536016;11684016;11821383;11953316;11967258;11997061;12019269;12096920;12170183;12191486;12215842;12387869;12459189;12459463;12477932;12628757;12692130;12761501;12888622;1321594;1373520;14584052;14669344;15030775;15039421;15107016;15296730;15326478;15383541;15471361;15489334;15498465;15561713;1574116;15749123;15809717;16037825;16087165;16123779;16260731;16286016;16405550;16428475;16575408;16621994;16778130;16780720;16785446;16817903;16903774;16920334;17036048;17173859;17196042;17207965;17360653;17418785;17477815;17597823;17623017;17703412;17959595;18029348;18209072;18263705;18263805;18304957;18329368;18523309;18550243;18577712;18590738;18799371;18828051;18981155;19013323;19074885;19117953;19141860;19158676;19158679;1919001;19258923;19269008;19275586;19382257;19414860;19439663;19573080;19593445;19648107;19737897;19773279;19779610;19825518;19833722;19913121;20038581;20048342;20060974;20170165;20184726;20197547;20402676;20485444;20503287;20628086;20808838;20852925;20855536;20959405;21037509;21048031;21052690;21311905;21320026;21463955;21757759;21792841;21832064;21862576;21862623;22046355;22046441;22195745;22227487;22491736;22537218;22833538;22837397;23021143;23209292;23226468;23236067;23278288;23386603;23508996;23590971;23637985;23703390;23793845;23839215;23884363;24022484;24130483;24275551;24356306;24481253;25015289;7642516;7721861;7797510;7876192;8034320;8035875;8044845;8125298;8861900;8962078;8978814;8999548;9002959;9070648;9115219;9190289;9219695;9250871;9334240;9334338;9435230;9535906;9548463;9593687;9632733;9705209;9705938;9727491;9792675;9804161;9830039;9875225;9894612;9987822;9990034 834 A8K249;A8K257;B4DVD8;G3V169;H0YEC7;P29466;Q5FBZ0 AA505065;AA737419;AA761907;AB102878;ABBA01039912;AK223503;AK290114;AK290122;AK296646;AK301037;AK310059;AK313516;AMYH02025506;AP001153;AY660536;BC041689;BC062327;CH471065;KF455483;M87507;NG_029124;NM_001223;NM_001257118;NM_001257119;NM_033292;NM_033293;NM_033294;NM_033295;U13697;U13698;U13699;U13700;X65019;XM_006718924 AAA66942;AAC50107;AAC50108;AAC50109;AAC50110;AAH41689;AAH62327;AAT72297;ADQ32141;BAD89407;BAD97223;BAF82803;BAF82811;BAG36296;BAG59246;BAG62650;CAA46153;EAW67057;EAW67058;EAW67059;EAW67060;EAW67061;NP_001214;NP_001244047;NP_001244048;NP_150634;NP_150635;NP_150636;NP_150637;P29466;XP_006718987 Hs.2490 1683557;1708054;1739603;2145768;5120157 D11S4052E;GDB:197846;IL1BCE;RH93671;SHGC-81423 CASP-1;ICE;IL-1BC;IL1BC;P45 CASP1 nirs variant 1;IL-1 beta-converting enzyme;IL1B-convertase;OTTHUMP00000045728;OTTHUMP00000232029;OTTHUMP00000232030;OTTHUMP00000232031;OTTHUMP00000232032;OTTHUMP00000232033;OTTHUMP00000232034;OTTHUMP00000232036;caspase 1;caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase);caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase);caspase-1;interleukin 1, beta, convertase;interleukin 1-B converting enzyme;interleukin 1-beta convertase;interleukin-1 beta convertase;interleukin-1 beta-converting enzyme APPROVED protein-coding ENSG00000137752 HGNC:1499 00977 147678 REVIEWED 1323414 CASP14 caspase 14, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15058743 15062628 + 15160291 15169104 + 15049480 15058293 + 1580863;6480464;8554872 10203698;11062009;11121154;11175259;12181750;12200134;12445205;12477932;1286667;15331408;15489334;15619438;16061209;16061862;16168224;16341674;16854378;17207965;17359582;17436577;17558860;18309324;18424262;18762957;19269008;19414860;19573080;19615732;19747408;19773279;19960512;20237496;20402676;20533828;20562859;21139048;21145461;21539619;21567094;21800051;21930782;22354994;22548721;22825846;22876114;23349634;23362869;23377137;23408445;23580611;23645350;23750785;24244333;24872419;9792675;9823333 23581 B2CIS9;P31944 ABBA01051094;AC004699;AF097874;AK313992;AMYH02035639;BC069541;BC103868;BC103869;BM840054;CH471106;EU262664;EU502748;NM_012114 AAD16173;AAH69541;AAI03869;AAI03870;ABX83060;ACA63845;ADQ32904;BAG36704;EAW84459;NP_036246;P31944 Hs.466057 2111312 DXS6776 MGC119078;MGC119079 CASP-14;apoptosis-related cysteine protease;caspase 14, apoptosis-related cysteine protease;caspase-14 APPROVED protein-coding ENSG00000105141 HGNC:1502 05788 605848 REVIEWED 1342676 CASP13 caspase 13, apoptosis-related cysteine protease 9624166 338022 AF078533 HGNC:1501 1348077 CASP12 caspase 12 (gene/pseudogene) Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011] 11 11 q22.3 104756445 104769397 - 104886691 104898670 - 2311450;2311451;2311485;1299333;2311466;2311453;2311461;2311467;2311449;2311454;2311455;2311458;2311470;6480464;8554872 12598725;14675152;15855338;16092975;16574987;16847061;18273070;18603371;18675883;18787714;19215662;19301230;19406177 11278723;11329013;11943137;12054529;12975309;14532116;15033764;15129283;16532395;16917906;17574210;18329614;18332441;18710920;18791174;19447924;19721713;20031604;20041182;20299359;20299368;20423816;20577092;20646990;21706251;21872999;23074197;24515649;9038361 100506742 D6RAQ6;D6RBW4;D6RC33;D6RG27;D6RIR9;D6RJG1;Q6UXS9 ABBA01039913;ABBA01039914;AF464191;AF464192;AF464193;AF464194;AF464195;AF486844;AF486845;AF486846;AF486847;AMYH02025506;AP002004;AY358222;BG183061;KF459667;KF495790;KF495792;NG_028201;NM_001191016;NR_034061;NR_034063;NR_034064;NR_034065;NR_034066;NR_034067;NR_034068;NR_034070;NR_034071 AAQ88589;NP_001177945;Q6UXS9 Hs.476989 CASP-12;CASP12P1 OTTHUMP00000207026;OTTHUMP00000207028;OTTHUMP00000207029;OTTHUMP00000207030;OTTHUMP00000207031;OTTHUMP00000207032;OTTHUMP00000212525;OTTHUMP00000219058;caspase 12;caspase 12 pseudogene 1;inactive caspase-12 APPROVED protein-coding ENSG00000204403 HGNC:19004 608633 REVIEWED 6480923 CASP1P1 caspase 1, apoptosis-related cysteine peptidase pseudogene 1 11 11 104993948 104994070 - 105123221 105123343 - 23897914 100874457 ABBA01039912;AMYH02025507;AP001153;NG_032566 pseudo HGNC:43775 INFERRED 5688830 CASP1P2 caspase 1, apoptosis-related cysteine peptidase pseudogene 2 11 11 11 q22.3 102098247 102105766 - 104933938 104942249 - 105063211 105071514 - 19773279 440067 ABBA01039912;AMYH02025506;AP001153 pseudo HGNC:43776 MODEL 5688833 CASP1P3 caspase 1, apoptosis-related cysteine peptidase pseudogene 3 11 11 11 102130349 102132500 - 104966165 104968316 - 105095438 105097589 - 100422634 ABBA01039912;AMYH02025507;AP001153;NG_024409 1652545 STS-N29857 pseudo HGNC:43777 INFERRED 5688796 CASP16 caspase 16, apoptosis-related cysteine peptidase (putative) INVOLVED IN proteolysis (inferred) 16 16 16 p13.3 3399629 3405561 + 3194016 3199961 + 3144015 3149960 + 6480464 12477932;14702039;15489334;15616553;18281271;9847080 197350 P0CB46 AC108134;AF098666;AK096989;AMYH02031283;BC111724;XM_003403459;XM_003960598 P0CB46;XP_003403507;XP_003960647 Hs.434132 5015961 D15S1477 CASP14L putative caspase-14-like protein;putative caspase-16 protein-coding HGNC:27290 MODEL 1347736 CASP10 caspase 10, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] 2 2 2 q33-q34 195802231 195848720 + 202047621 202094129 + 201182898 201229406 + 1580863;2314187;6480464;6484113;6907045;7240710;8554872;8699517 17082813 10187817;10412980;10432301;10716992;10734073;11002417;11048727;11098060;11161814;11395500;11583996;1171445;11717445;11832478;11973654;12010812;12037669;12198154;12388546;12477932;12527898;12884866;12887920;14687710;14688482;14759258;14761933;15069192;15280356;15452117;15500642;15659383;15735701;15767684;15772077;16186808;16251207;16344560;16446975;16767158;170210;17071630;17085968;17159907;17450141;17479112;17534194;17623017;17822854;17999750;18381704;18563783;18676680;18716417;18823309;19074885;19141860;19166881;19170196;19219602;19269008;19380486;19414860;19423537;19550122;19604093;19625176;19641626;19692168;19773279;19784808;19826114;19861680;19900088;19902255;20025484;20301287;20402676;20453000;20467438;20644561;20661084;20800603;20802294;20829884;20855536;20959405;20978178;21048031;21139048;21368896;21454616;21559821;21911414;21988832;22683265;22782902;22843554;22864571;23212337;23303631;23541952;23770605;23921907;3031469;8125298;8521391;8755496;8962078;9045686;9153302;9208847;9228018;9289491;9325248;9337844;9792675 843 B4E3T5;Q92851 AB038979;ABBA01062536;AC007283;AF111344;AF111345;AI696103;AJ487678;AJ487679;AK225475;AK304859;AK310746;AMYH02005549;AY690601;BC042844;BX089180;CH471063;DA456072;EF050529;NG_007265;NM_001206524;NM_001206542;NM_001230;NM_032974;NM_032976;NM_032977;U60519;U86214;XM_005246907;XM_005246909;XM_005246910;XM_005246911;XM_006712796 AAB46730;AAC50644;AAD28402;AAD28403;AAH42844;AAU00989;AAY24291;ABJ53426;ADZ15622;BAB32553;BAB32554;BAG65597;CAD32371;CAD32372;EAW70247;EAW70248;EAW70249;EAW70250;EAW70251;NP_001193453;NP_001193471;NP_001221;NP_116756;NP_116758;NP_116759;Q92851;XP_005246964;XP_005246966;XP_005246967;XP_005246968;XP_006712859 Hs.5353 1730123;1793552;1795470;2127874;2150571;2179208 CASP10_482;D2S188E;PMC230316P3;RH68751;RH70685;RH77986 ALPS2;FLICE2;MCH4 CASP-10;FADD-like ICE2;FAS-associated death domain protein interleukin-1B-converting enzyme 2;ICE-like apoptotic protease 4;OTTHUMP00000163712;OTTHUMP00000163713;OTTHUMP00000163714;OTTHUMP00000206550;OTTHUMP00000206551;apoptotic protease MCH-4;caspase 10, apoptosis-related cysteine protease;caspase-10;interleukin-1B-converting enzyme 2 APPROVED protein-coding ENSG00000003400 HGNC:1500 03458 137215;601762;603909;605027;613659 REVIEWED 1604850 CASP2 caspase 2, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 7 7 7 q34-q35 137822267 137841650 + 142985308 143004789 + 143288215 143307696 + 4107076;4107080;6480464 12067235;17627033 10079193;10329646;10791974;10980123;11076957;11156409;11278287;11313953;11350957;11399776;11425872;11823470;11830582;11832478;11972030;12011445;12065594;12107826;12145703;12193789;12477715;12477932;12584573;12598307;12787561;12837286;12853948;12920126;14584591;14623896;14647455;14701762;14702039;14713958;14716300;15073321;15173176;15262979;15297885;15489334;15500642;15511269;15555560;15590671;15735701;15817479;15843892;15882978;16172118;16193064;16227610;16344560;16360037;16387548;16652156;16701639;16777994;16822901;16843824;17079734;17159900;17195089;17637755;17902043;17945178;18166155;18238895;18309324;18375382;18413747;18418048;18723680;18840686;19074885;19269008;19322201;19347032;19414860;19453261;19573080;19593445;19604093;19715609;19730412;19738422;19773279;19935698;20143425;20158568;20187765;20208132;20402676;20453000;20819778;20855536;20978129;21051981;21332795;21415862;21475302;21726810;21828056;21900206;21903589;21906983;21940110;21988832;22002103;22077397;22174370;22201672;22396545;22486813;22505724;22531785;22825847;23042294;23049853;23404198;23469978;23553630;23568547;24250222;24321384;24727569;7789948;8044845;8087842;8780721;8962078;8985253;9044836;9228018;9261102;9560245;9695946;9792675;9847074 835 C9JRR9;D3DXD8;D3DXD9;P42575 AB209640;ABBA01034134;AC073342;AF314174;AF314175;AK096245;AK291274;AK303265;AK303391;AMYH02016934;AY219042;BC002427;BG397039;BM998653;BQ447606;BT007240;BX537669;CB988674;CH236959;CH471198;CR541748;DA505883;DB455837;DB455840;NG_029248;NM_001224;NM_032982;NM_032983;U13021;U13022 AAA58959;AAA58960;AAH02427;AAK00299;AAK00300;AAO25653;AAP22346;AAP22347;AAP22348;AAP22349;AAP35904;ABM84746;BAD92877;BAF83963;BAG64347;BAG64447;CAG46548;EAW51860;EAW51862;EAW51863;EAW51864;EAW51867;EAW51869;EAW51870;NP_001215;NP_116764;NP_116765;P42575 Hs.368982 1647746;1662076;1697432;1767210;2113714;2150790;2174901;5014051;5037552 A004G42;CASP2;D8S2278;D8S2279;NEDD2;RH102216;RH12751;WI-19013;WI-9353 CASP-2;ICH-1L;ICH-1L/1S;ICH-1S;ICH1;NEDD-2;NEDD2;PPP1R57 ICH-1 protease;NEDD2 apoptosis regulatory;OTTHUMP00000025259;OTTHUMP00000202227;caspase-2;neural precursor cell expressed developmentally down-regulated protein 2;neural precursor cell expressed, developmentally down-regulated 2;protease ICH-1;protein phosphatase 1, regulatory subunit 57 APPROVED protein-coding ENSG00000106144 HGNC:1503 02800 600639 REVIEWED 1351672 CASP5 caspase 5, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] 11 11 11 q22.2-q22.3 102029166 102058058 - 104864967 104893895 - 104994240 105023168 - 1580863;5490211;6480464;6907045;8554872 20303873 10872455;10986288;11356849;11535131;12191486;12477932;12479849;12853457;12964016;15886296;16886895;16893518;17418785;17676485;18430458;19074885;19203830;19269008;19270026;19414860;19573080;19593445;19604093;19773279;20237496;20379614;20402676;20434535;20635389;20855536;21051981;21191419;21454616;21668377;21700414;21969293;22906436;7797592;8617266;9250871;9298992;9894612 838 C9JF14;H7C0P5;P51878 ABBA01039912;AK296660;AMYH02025506;AP001153;BC074994;BC113406;CH471065;DQ228672;DQ228673;DQ228674;DQ228675;DQ228676;DQ228677;DQ508420;DR005081;KF455484;NM_001136109;NM_001136110;NM_001136112;NM_004347;NR_024239;NR_036562;U28015;W60703;X94993;XM_006718925 AAA75172;AAH74994;AAI13407;ABB58698;ABB58699;ABB58700;ABB58701;ABB58702;ABB58703;ABF47103;BAG59257;CAA64450;EAW67054;EAW67055;EAW67056;NP_001129581;NP_001129582;NP_001129584;NP_004338;P51878;XP_006718988 Hs.213327 2111804;5121203 D11S4491;RH71301 CASP-5;ICE(rel)III;ICEREL-III;ICH-3;MGC141966 ICE(rel)-III;OTTHUMP00000045729;OTTHUMP00000209889;OTTHUMP00000231914;OTTHUMP00000231915;TY protease;caspase 5, apoptosis-related cysteine protease;caspase-5;protease ICH-3;protease TY APPROVED protein-coding ENSG00000137757 HGNC:1506 04048 602665 REVIEWED 1343162 CASP4 caspase 4, apoptosis-related cysteine peptidase This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 11 11 11 q22.2-q22.3 101977781 102003518 - 104813594 104839325 - 104942867 104968598 - 1580863;6480464 10069390;10329646;10477277;10872455;11927604;12096920;12477932;14702039;15123740;15146197;15326478;15489334;15500642;15975932;16920334;17353931;17942194;18029041;18056395;1919001;19269008;19414860;19573080;19705160;19773279;20237496;20402676;20453000;20514521;20816908;20855536;21282934;21317160;21479362;21781452;21832049;21984918;21988832;22246630;22733992;23661706;23684308;23845419;24879791;7743998;7797510;7797592;8125298;8962078;9233763;9250871;9539746;9694885;9792675;9875225 837 E9PMT1;H0YD34;P49662 A48861;ABBA01039912;AI128358;AK057094;AK225751;AK296081;AK304222;AL050391;AMYH02025506;AP001153;AP002004;BC008060;BC017839;CH471065;CN261701;EF636667;NM_001225;NM_033306;U25804;U28014;U28976;U28977;U28978;U28979;Z48810 AAA75171;AAA86890;AAC99850;AAC99851;AAC99852;AAC99853;AAC99854;AAH17839;ABM82909;ABM86099;ABR09278;BAG51861;BAG58837;BAG65094;CAA03154;CAA88750;CAB43686;EAW67050;EAW67051;EAW67052;EAW67053;NP_001216;NP_150649;P49662 Hs.138378 1339264;1669308;1737281;2143843 D11S1886;D11S3145;D11S4641;RH16178 CASP-4;ICE(rel)-II;ICE(rel)II;ICEREL-II;ICH-2;Mih1/TX;TX OTTHUMP00000231863;OTTHUMP00000231864;apoptotic cysteine protease Mih1/TX;caspase 4, apoptosis-related cysteine protease;caspase-4;protease ICH-2;protease TX APPROVED protein-coding ENSG00000196954 HGNC:1505 04047 602664 REVIEWED 5683667 CASP3P1 caspase 3, apoptosis-related cysteine peptidase pseudogene 1 1 1 1 p31.1 69415569 69416176 - 71126337 71126944 - 70660654 70661261 - 100131616 ABBA01074476;AL592104;AMYH02001245;NG_022722 pseudo HGNC:43596 INFERRED 731002 CASP3 caspase 3, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 6, 7 and 9, and the protein itself is processed by caspases 8, 9 and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] 4 4 4 q34 182877510 182899293 - 185548850 185570629 - 184627696 184649475 - 1300048;734693;734692;71121;2313963;2293092;2313998;2314002;2298948;2293304;2293322;2311448;2293309;2293311;2314187;2293308;2311466;2311451;2311440;2311467;2311446;2293314;2298949;2293330;2311432;2311441;2311436;2293093;2293315;2293306;2293307;2293316;2314390;2311430;2311442;2311444;2311447;2311455;2293324;4143170;4143196;4143171;5490154;6480464;6484113;6907045;7248688;7248687 10319819;11092762;11773055;12107344;15855338;16443785;16574987;16847061;17082813;17267327;17403612;17513560;17869439;18063461;18064531;18090083;18172282;18177927;18192848;18227733;18253123;18288275;18378144;18463494;18466900;18470603;18490106;18521931;18603371;18817839;18836575;18931364;19013511;19094082;19100955;19145435;19187597;19239902;19356238;19555701;19601660;19961901;22419868;22614867 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836 A8MVM1;C9JXR7;P42574 ABBA01070517;AC073932;AC079257;AJ413269;AK291337;AMYH02010651;AU127028;AU133051;AY219866;BC016926;BU753483;BX647609;CH471056;CQ786438;GM887507;HI179110;HI179112;NM_004346;NM_032991;U13737;U13738;U26943 AAA65015;AAA74929;AAB60355;AAH16926;AAO25654;ABM82469;ABM85657;BAF84026;CAC88866;CAG17895;CAI46084;CAV28500;CBX53863;CBX53864;EAX04673;EAX04674;EAX04675;EAX04676;NP_004337;NP_116786;P42574 Hs.141125 1688472;1715807;1725607;1775825;2121640;2172288;2175439;5492153 Casp3;D4S3281;G10724;G62021;RH119600;RH46486;SHGC-59603;SHGC-67239 CASP-3;CPP-32;CPP32;CPP32B;SCA-1;Yama OTTHUMP00000165052;OTTHUMP00000165053;OTTHUMP00000165054;OTTHUMP00000165055;OTTHUMP00000224230;OTTHUMP00000224231;PARP cleavage protease;SREBP cleavage activity 1;apopain;caspase 3, apoptosis-related cysteine protease;caspase-3;cysteine protease CPP32;procaspase3 APPROVED protein-coding ENSG00000164305 HGNC:1504 02799 600636 REVIEWED 1298347 CASP7 caspase 7, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 10 10 10 q25 109166297 109218022 + 115438921 115490668 + 113679162 113730909 + 734511;1580863;2314187;4143196;4143171;5684540;5684535;5684536;6480464;5684537;5684539;6907045;8548491 14679087;17082813;17596683;17646170;18785314;19168786;19239902;19961901;20702827;23470535 10069390;10082581;10103059;10200531;10318789;10469173;1056466;10564664;10675528;10731697;10791974;10862606;10998058;11016947;11024045;11058599;11084335;11170436;11257230;11257231;11257232;11278572;11356849;11359776;11387340;11399776;11420704;11423904;11425872;11448953;11514563;11535131;11555640;11752425;11755217;11802788;11815631;11829465;11832478;11859414;11875078;11904443;11943137;12107159;12145703;12181742;12477932;12586738;12665508;12804035;12824163;12888622;12951057;12970753;14512414;14583630;14584591;14623896;14713958;15033720;15200957;15254227;15489334;15500642;15507451;15511269;15580265;15650747;15735701;16123041;16213496;16339151;16344560;16385451;16498457;16918502;17023557;17094969;17167422;17283187;17337451;17504820;17532763;17697120;17880920;17978580;18072206;18086147;18459962;18521960;18596415;18708163;18723680;19022247;19052714;19058873;19141860;19219602;19241192;19258326;19269008;19323650;19414860;19531679;19573080;19581639;19604093;19605487;19617626;19655253;19655254;19692467;19698783;19738422;19759058;19770576;19773279;19782763;19826114;19913121;19996278;20159985;20379614;20402676;20404718;20453000;20468060;20566630;20567846;20628086;20661084;20800603;20819778;20855536;20950443;20959405;21044950;21142842;21157428;21484410;21555521;21936563;22184066;22441531;22451931;22548721;22561518;22584050;22863883;22986525;23000965;23049853;23074197;23190606;23383273;23650375;23728617;23732112;23765963;23979166;24040159;24407236;24434142;7983002;8125298;8521391;8567622;8576161;8631895;8755496;8780721;8812467;8889548;8962078;9070923;9219695;9228018;9230442;9298992;9323209;9325343;9337844;9384571;9525868;9535906;9593687;9607320;9671712;9850056;9875225;9894612;9922454;9990034 840 B4DWA2;P55210;Q5SVL1;Q5SVL2 AB451281;AB451413;ABBA01062991;ABBA01062992;AK223489;AK298964;AK300578;AK301437;AL592546;AL627395;AMYH02023841;AU130224;BC015799;BM976488;BP429646;BQ006259;BQ007179;BT006683;BX487250;BX647973;CH471066;DC332144;DC364916;DC384804;GM887522;NM_001227;NM_001267056;NM_001267057;NM_001267058;NM_033338;NM_033339;NM_033340;U37448;U37449;U39613;U40281;U67206;U67320;XM_006718016;XM_006718017;XM_006718018;XM_006718019 AAC50303;AAC50304;AAC50346;AAC50352;AAC51153;AAF21460;AAH15799;AAP35329;ABM84695;ABM92231;ACE86696;ACE87380;BAG61059;BAG62277;BAG62964;BAG70095;BAG70227;CAV28504;EAW49494;EAW49495;EAW49496;EAW49497;EAW49498;NP_001218;NP_001253985;NP_001253986;NP_001253987;NP_203124;NP_203125;NP_203126;P55210;XP_006718079;XP_006718080;XP_006718081;XP_006718082 Hs.9216 1736030;1768691;2109111;2171199 CASP7_81;D10S1306E;RH18047;SHGC-33054 CASP-7;CMH-1;ICE-LAP3;LICE2;MCH3 ICE-like apoptotic protease 3;Lice2 alpha/beta/gamma;OTTHUMP00000020510;OTTHUMP00000020511;OTTHUMP00000020512;OTTHUMP00000020513;OTTHUMP00000020514;apoptotic protease MCH-3;caspase 7 isoform delta;caspase 7, apoptosis-related cysteine protease;caspase-7 APPROVED protein-coding ENSG00000165806 HGNC:1508 03457 601761 REVIEWED 730846 CASP8 caspase 8, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008] 2 2 2 q33-q34 195852777 195904249 + 202098166 202152434 + 201233443 201287711 + 734696;734695;1580863;1300048;2311427;2311428;2311429;2311245;2311439;2311319;2311430;2311431;2314002;2314187;2311435;2311436;2315744;1624191;2317230;4143170;4143196;4143171;6480464;6484113;6907045;7240710;7248688;8554872;8699517 10197541;12353035;12753807;15036620;15590916;15976052;16443785;17082813;17403612;17563067;17880769;18090083;18483392;18521931;18570579;19194987;19239902;19540304;19843670;19961901;22419868 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4;22860893;22864571;22922291;22949938;22971934;23071110;23074197;23081800;23096115;23142077;23185580;23230268;23244104;23255602;23289213;23306557;23313206;23364796;23418437;23434145;23618862;23659359;23751956;23770605;23844036;23867815;23921907;23972990;23982205;24021263;24097299;24121507;24127565;24149212;24209510;24287696;24390342;24391214;24398693;24412083;24438025;24442637;24457433;24503077;24530529;24535941;24577083;24819879;24980434;25059065;3031469;7983002;8521391;8681376;8681377;8755496;8962078;9006941;9027312;9184224;9208847;9219695;9228018;9271594;9289491;9325248;9326610;9334338;9337844;9380701;9535906;9539746;9560245;9575181;9624166;9632733;9721089;9727491;9727492;9763668;9774341;9792675;9804161;9875225;9878167;9931493;9971775;9990034 841 C9JB29;E7EQ01;E7EQ06;E7ETB7;E7EVN1;F8WF39;H7BZM4;H7C0E2;Q14790 AA312258;AB038985;AB451282;AB451414;ABBA01062536;ABBA01062537;ABBA01062538;ABBA01062539;AC007256;AC007283;AF009620;AF102139;AF102140;AF102141;AF102142;AF102143;AF102144;AF102145;AF102146;AF207672;AF380342;AF422926;AF422927;AF422928;AF422929;AI351872;AK310630;AL600571;AL601594;AL702116;AMYH02005549;AX134419;AY429525;BC010390;BC017031;BC028223;BC068050;BG236020;BG498355;BX395849;CB990598;CH471063;DA420056;DB157537;DQ355026;EU168332;EU670044;HA637638;HI179126;HI179128;HI179130;HI179132;JN657192;NG_007497;NM_001080124;NM_001080125;NM_001228;NM_033355;NM_033356;NM_033358;NR_111983;U58143;U60520;X98172;X98173;X98174;X98175;X98176;X98177;X98178;XM_005246885;XM_005246886;XM_005246887;XM_005246888;XM_005246889;XM_005246890;XM_005246891;XM_005246892;XM_005246893;XM_005246894;XM_005246895;XM_005246896;XM_006712789;XM_006712790;XM_006712791;XM_006712792;XM_006712793;XR_241323 AAB70913;AAC50602;AAC50645;AAD24962;AAG10682;AAH68050;AAK57437;AAL87629;AAL87630;AAL87631;AAL87632;AAY24225;ABC67468;ABX09989;ACF93415;AFI38959;BAB32555;BAG70096;BAG70228;CAA66853;CAA66854;CAA66855;CAA66856;CAA66857;CAA66858;CAA66859;CAC39526;CAZ39541;CBX53871;CBX53872;CBX53873;CBX53874;EAW70253;EAW70254;EAW70258;EAW70262;NP_001073593;NP_001073594;NP_001219;NP_203519;NP_203520;NP_203522;Q14790;XP_005246942;XP_005246943;XP_005246944;XP_005246945;XP_005246946;XP_005246947;XP_005246948;XP_005246949;XP_005246950;XP_005246951;XP_005246952;XP_005246953;XP_006712852;XP_006712853;XP_006712854;XP_006712855;XP_006712856 Hs.599762 1646319;1650227;1651195;1662030;1674567;1777685;1793550;1852911;2154216;5014051;5022651;5117897 A008P44;D11S2921;D2S1853;D8S2278;G29514;GDB:631813;PMC230316P2;RH15884;RH36454;RH70497;RH70951;RH78960 ALPS2B;CAP4;Casp-8;FLJ17672;MACH;MCH5;MGC78473 FADD-homologous ICE/CED-3-like protease;FADD-like ICE;FLICE;ICE-like apoptotic protease 5;MACH-alpha-1/2/3 protein;MACH-beta-1/2/3/4 protein;MORT1-associated ced-3 homolog;OTTHUMP00000163717;OTTHUMP00000163720;OTTHUMP00000165062;OTTHUMP00000165063;OTTHUMP00000165064;OTTHUMP00000206552;OTTHUMP00000206557;OTTHUMP00000206581;apoptotic cysteine protease;apoptotic protease Mch-5;caspase 8, apoptosis-related cysteine protease;caspase-8 APPROVED protein-coding ENSG00000064012 HGNC:1509 03459 114480;114550;211980;601763;607271 REVIEWED 732006 CASP6 caspase 6, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in two transcript variants that encode different isoforms. [provided by RefSeq, Jul 2008] 4 4 4 q25 107903448 107918292 - 110609785 110629814 - 109688629 109709224 - 1300048;2301331;1582381;2301336;2301314;2301320;2301337;2301338;2301316;2301332;2301339;6480464;6907045 10574243;11086028;11311984;11406539;15010362;15210759;15507514;15662549;15749343;17283169 10069390;10103059;10205159;10409650;10432301;10438520;10469173;10481058;10655504;10734073;10770929;11016947;11098060;11246070;11262188;11331782;11356849;11387340;11423904;11438643;11463840;11514563;11802788;11832478;11859414;11901153;11953316;12052891;12089322;12145703;12232792;12477932;12888622;14713958;15103018;15200957;15273717;15280469;15321985;15356202;15489334;15500642;15511269;15654952;15735701;16123779;16135563;16169070;16341674;16518869;16948818;16977583;17167422;17337451;17392160;18029348;18155731;18408014;18497562;18723680;18762957;18820706;18946722;19022247;19052714;19219602;19269008;19414860;19573080;19694615;19773279;19897582;19915487;20097875;20332099;20402676;20427671;20437871;20606168;20661084;20682790;20702410;20801175;20855536;20890311;21098228;21111746;21139048;21317160;21621544;21900206;21906983;21918813;21936563;21963094;21988832;22094081;22433863;22505724;22683611;22858542;22891250;23074197;23402898;24058506;24265764;24419379;24727569;24816145;7796396;7983002;8710882;8780721;8812467;8900201;8962078;8978814;9219695;9228018;9298992;9337844;9463409;9593687;9857079;9933635;9990034 839 D6RBM3;D6RHU3;P55212 ABBA01063783;AC004067;AMYH02009898;AY254046;BC000305;BC004460;BM837197;CH471057;NG_029187;NM_001226;NM_032992;U20536;U20537;XM_005263271 AAC50168;AAC50169;AAH00305;AAH04460;AAO63494;ABM85515;ABW03757;EAX06244;EAX06245;NP_001217;NP_116787;P55212;XP_005263328 Hs.654616 1645970;1698608;1769507;1791093;1791095;1791097;1795472;2116221;2170477;5015961;5022322 CASP6_488;D11S2560;D15S1477;D4S262;RH102859;SHGC-19815;SHGC-19828;SHGC-51589;csnpcasp6-pcr2-1;csnpcasp6-pcr5-1;csnpcasp6-pcr6-1 CASP-6;MCH2 OTTHUMP00000162742;OTTHUMP00000162743;apoptotic protease MCH-2;caspase 6;caspase 6, apoptosis-related cysteine protease;caspase-6 APPROVED protein-coding ENSG00000138794 HGNC:1507 03321 601532 REVIEWED 737298 CASQ2 calsequestrin 2 (cardiac muscle) The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008] 1 1 1 p13.1 114471445 114540231 - 116242624 116311426 - 115700003 115768805 - 734697;1580863;6480464;6771208;6771209;6771235;7240710;7204686;8554872;8699517 11704930;1531837;20356453;21441944;21565973 10748065;10825439;11069905;11113462;12386154;12477932;12732448;12858557;14571276;14638677;15050380;15485681;15489334;15698842;16601229;16908766;17045261;17531962;17569730;17607358;17655857;17881003;17938175;18399795;18469084;18543230;18669926;19357236;19376574;19398665;19403607;19709828;1985907;20039900;20301466;20302875;21063088;21265816;21416293;21618644;21685173;21872879;22050625;22123818;22421959;22481011;22650415;23595086;24127619;7721813;8125298;8406504;8889548;9287354;9795116 845 B4DEF0;O14958 ABBA01068477;ABBA01068478;AK129831;AK129891;AK225959;AK293595;AK295502;AK313041;AL449264;AL450389;AMYH02001789;AMYH02001790;BC022288;BM679349;CH471122;D55655;DC423064;NG_008802;NM_001232 AAH22288;ABM84145;ABM87547;BAA23494;BAG35873;BAG57061;BAG58422;EAW56635;EAW56636;NP_001223;O14958 Hs.57975 1781786;2137533 AL009800;SHGC-155959 FLJ26321;FLJ93514;PDIB2 OTTHUMP00000013749;calsequestrin 2;calsequestrin 2, fast-twitch, cardiac muscle;calsequestrin, cardiac muscle isoform;calsequestrin-2 APPROVED protein-coding ENSG00000118729 HGNC:1513 00256 114251;611938 REVIEWED 1321668 CASS4 Cas scaffolding protein family member 4 ENCODES a protein that exhibits phosphorelay sensor kinase activity (inferred); INVOLVED IN cell adhesion (inferred); phosphorelay signal transduction system (inferred); signal transduction by phosphorylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chloroprene (ortholog); titanium dioxide (ortholog) 20 20 20 q13.31 51727599 51774824 + 54987168 55034396 + 56411555 56459340 + 6480464;8554872 11780052;12477932;14702039;15489334;16344560;18256281;19380743;23001926;24162737 57091 B4DII4;Q9NQ75 ABBA01052892;ABBA01052893;AJ276678;AK027760;AK295613;AK308057;AK314653;AL121914;AMYH02037339;BC027951;BX280195;CH471077;DA584687;KF456952;NM_001164114;NM_001164115;NM_001164116;NM_020356;XM_006723831 AAH27951;BAB55351;BAG58496;CAC00655;EAW75541;EAW75542;EAW75543;EAW75544;EAW75545;EAW75546;EAW75547;NP_001157586;NP_001157587;NP_001157588;NP_065089;Q9NQ75;XP_006723894 Hs.473144 1709174;2133205;2135529;5024761 D20S775;D20S777;RH36905;SHGC-85749 C20orf32;CAS4;HEFL;HEPL HEF-like protein;HEF1-EFS-p130Cas-like protein;OTTHUMP00000031328;OTTHUMP00000031329 protein-coding ENSG00000087589 HGNC:15878 09842 VALIDATED 1344349 CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013] 1 1 1 q21 133229049 133240436 + 160160285 160171676 + 160190495 160201886 + 1580863;2314136;2314137;2314133;2314134;2314135;6480464;7204686 11976916;15561962;15561963;17681849;18269685;20356453 12477932;15489334;16344560;17009399;18452871;20682687;22060633;22337878;2321095;23460944;23792176;24127619;24887214;7599203;7666833;7945294;8406504;8660374;9125222 844 C9JAC8;P31415 AA197256;ABBA01016614;AI141895;AK300713;AK313250;AL121987;AL139011;AMYH02002023;BC022289;BF574316;BX500008;CH471121;DA766051;NM_001231;S73775 AAB32063;AAH22289;ABM82911;ABM86101;BAG36060;BAG62390;EAW52736;NP_001222;P31415 Hs.632476 1690448;1778365;1852760 RH17912;RH64698;RH79623 CASQ;PDIB1 OTTHUMP00000029889;calmitin;calmitine;calsequestrin, skeletal muscle isoform;calsequestrin-1 APPROVED protein-coding ENSG00000143318 HGNC:1512 15915 114250 REVIEWED 737362 CAST calpastatin The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010] 5 5 5 q15 91882129 91994809 + 95997741 96110387 + 96662037 96774683 + 1580863;1626249;5509809;5509819;5509812;5509823;5509799;5509801;5509800;5509813;5509814;5509817;5509810;5509822;5509818;5509821;5683871;5683619;6480464;5683320;5683321;5683620;5683622;5683623;5683872;5683869 10318818;10722997;11035539;11264179;12367559;12482022;15307896;15540513;15563579;15654835;15863237;16236382;16314468;16467455;16871587;17359359;17429681;17853947;19020018;20116408;20127884;20595388;7706496;9256029 10600505;10731697;10822276;10859257;10942721;11076863;11230166;11849768;11978196;12477932;12482888;12591934;12684003;12923177;14559243;14612448;14685690;14702039;14992597;15014085;15044459;15101818;15302935;15489334;15489336;1569094;15820218;15950654;16344560;16381901;17081983;17137217;17474147;17950697;18165173;18195134;18340456;18498295;18519038;18537264;18544539;18724972;18793761;18809371;19103264;19322201;19365859;19581569;19756344;19913121;1995645;20379614;20628086;20679491;20953190;21263028;21424381;21531560;21839844;21906983;21937422;21983488;22046434;22206846;22286212;22288381;22572592;2265559;22863883;22939629;23140395;23449483;23684705;23707532;23773963;23951044;2407243;24462690;24816145;2548504;2553724;2559735;2577276;2849943;7638179;7710300;7951045;7998969;8340353;8889548;9213221;9705209;9873017 831 B7Z468;B7Z574;B7Z6N0;D6RAA8;D6RBR1;D6RBZ8;D6RC54;D6RGF7;E7EN75;E7EQ12;E7EQA0;E7EQK6;E7ES10;E7ESM9;E7EVY3;E9PCH5;E9PDE4;E9PSG1;F8W7E0;H0Y7F0;H0Y944;H0Y9H6;H0YA91;H0YD33;P20810;Q59HE3;Q86YM9 AB026049;AB208816;ABBA01069229;ABBA01069230;ABBA01069231;AC008906;AC020900;AF095891;AF327443;AK098137;AK292289;AK292356;AK296919;AK297879;AK298541;AK299384;AK299402;AK300624;AK302206;AK303836;AK303900;AK311585;AK311598;AK314290;AK315146;AK315673;AL045308;AL832174;AL832349;AMYH02011831;AY189741;BC013579;BC016066;BC078149;BM676369;BQ420953;BQ893654;BQ940454;BT009783;BX648397;CA775469;CD702474;CH471084;D16217;D50827;DB033043;DB450697;DC424542;DR004967;HY159082;KC877037;M28227;M28228;M28229;M28230;M33328;M86258;NG_029490;NM_001042440;NM_001190442;NM_001284212;NM_001284213;NM_173060;NR_104285;S73329;U26724;U31345;U31346;U38525;U58996;U83601;XM_006714696;XM_006714697;XM_006714698;XM_006714699;XM_006714700;XM_006714701;XM_006714702;XM_006714703;XM_006714704;XM_006714705;XM_006714706;XM_006714707;XM_006714708;XM_006714709;XM_006714710;XM_006714711;XM_006714712;XM_006714713;XM_006714714;XM_006714715 AAA52066;AAA52296;AAA80684;AAB32311;AAB41237;AAB59398;AAB60371;AAB60372;AAC14353;AAC50136;AAD09102;AAG48151;AAH13579;AAH16066;AAH78149;AAO34397;AAP88785;ABM82405;ABM85594;BAA03747;BAA09438;BAA76923;BAD92053;BAF84978;BAF85045;BAG37594;BAG38038;BAH12454;BAH12685;BAH12810;BAH13022;BAH13025;BAH13316;BAH13650;BAH14064;BAH14077;CAL38303;CAL38312;EAW96064;EAW96065;EAW96066;EAW96067;EAW96068;EAW96069;EAW96070;EAW96071;EAW96072;EAW96073;EAW96074;EAW96075;EAW96076;NP_001035905;NP_001177371;NP_001271141;NP_001271142;NP_775083;P20810;XP_006714759;XP_006714760;XP_006714761;XP_006714762;XP_006714763;XP_006714764;XP_006714765;XP_006714766;XP_006714767;XP_006714768;XP_006714769;XP_006714770;XP_006714771;XP_006714772;XP_006714773;XP_006714774;XP_006714775;XP_006714776;XP_006714777;XP_006714778 Hs.436186 1652811;1661367;1666189;1777714;1794170;1854165;2106439;2117015;2140895;2151084;2151157;2162460;2182273;2187627;5095827;5106759;5121009 A009U12;ARTS-1__4376;D5S1571E;D5S2413;D5S2629;D5S2667;PMC310823P10;RH36372;RH46487;RH47549;RH69827;RH70772;RH77935;RH79021;STS-D29461;WI-18741;WI-7819 BS-17;MGC9402 OTTHUMP00000158519;OTTHUMP00000158520;OTTHUMP00000179127;OTTHUMP00000222728;OTTHUMP00000222729;OTTHUMP00000222731;OTTHUMP00000222732;OTTHUMP00000222733;OTTHUMP00000222734;OTTHUMP00000222735;OTTHUMP00000222737;OTTHUMP00000222738;OTTHUMP00000222739;OTTHUMP00000222740;OTTHUMP00000222748;OTTHUMP00000222806;calpain inhibitor;sperm BS-17 component APPROVED protein-coding ENSG00000153113 HGNC:1515 00233 114090 REVIEWED 1343051 CATHL1 cathelicidin 1 (cyclic dodecapeptide, bactenin 1) 7589491 848 HGNC:1517 69147 CASP9 caspase 9, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 1 p36.21 14301661 14333662 - 15817896 15851407 - 15489723 15524912 - 1580863;1300048;2313963;2313998;2314002;2314187;2311432;2311244;2311320;2311322;2311466;2315928;2315929;2311430;2311245;2311436;2311319;2311246;2311321;2315933;2314390;2315930;2290492;6480464;6484113;6907045;8554872 14617576;15246841;15805231;15976052;16038259;16443785;16847061;17011986;17082813;17297389;17869439;17880769;18090083;18369072;18521931;18817839;18931364;19145435;19252927;19412632;20012353 10070954;10085063;10187815;10206961;10329646;10376594;10384055;10438581;10469173;1067155;10671558;10708425;11024045;11069302;11076957;11084335;11113115;11230124;11242052;11248093;11350957;11387340;11390657;11393657;11408476;11423904;11462036;11514563;11734640;11801602;11801603;11803376;11832478;11870543;11905052;11919192;11927604;11948397;12021264;12055227;12095993;12096338;12145703;12147322;12372609;12393263;12393884;12404116;12477932;12566444;12586738;12620238;12620239;12637514;12732844;12749848;12782307;12792650;12804035;12914932;12954616;14512414;14523016;14566819;14634335;14684629;14701803;14747474;14982875;14991812;14993223;15200957;15214043;15220451;15254227;15262985;15273730;15280366;15300255;15473998;15485395;15485396;15489334;15500642;15507451;15578977;15629764;15657060;15657349;15674327;15703181;15725353;15735701;15749826;15767427;15811855;15829969;15935070;16120388;16181301;16189514;16242324;16260615;16287866;16300929;16322207;16337360;16339151;16344560;16480911;16497673;16505307;16505493;16511342;16520893;16687442;16689829;16701639;16710414;16716256;16780893;16895904;16936772;16979168;17030903;17071630;17079734;17140287;17167422;17179183;17207965;17285546;17291493;17299206;17379327;17409234;17437405;17466630;17534194;17626072;17653867;17893147;17899380;17967742;18022362;18054197;18083711;18086147;18202770;18297401;18309324;18381704;18415681;18632964;18676680;18723680;18813792;18814044;18840411;19013323;19016842;19052714;19058789;19074885;19081073;19141860;19153467;19159073;19170196;19183163;19219602;19238172;19269008;19275583;19275584;19275586;19275587;19359048;19414860;19458171;19465923;19493480;19550122;19573080;19625176;19626422;19655415;19674438;19692168;19692467;19698783;19724860;19741144;19758996;19770581;19773279;19789190;19807657;19826114;19895210;19906200;19913121;20012528;20013803;20022954;20042134;20060927;20071584;20227371;20227384;20340172;20357690;20379614;20402676;20404718;20453000;20490276;20628086;20644561;20650551;20661084;20667824;20800603;20804486;20855536;20887385;20959405;20978129;21045158;21048031;21091209;21117896;21142842;21178828;21266831;21282934;21284734;21297999;21382445;21396853;21461653;21483669;21538054;21555338;21565459;21612408;21622622;21644232;21659556;21724551;21757755;21785112;21827945;21868008;21869827;21944661;21957492;21988832;22086301;22120515;22191568;22219640;22306364;22339913;22552851;22573662;22616010;22629415;22679284;22683311;22926545;22944165;22974165;22981751;23038270;23074197;23202514;23203690;23303631;23359247;23364796;23383273;23396972;23424205;23430060;23443079;23479167;23539542;23566959;23572523;23615977;23637769;23645041;23652278;23678002;23725396;23732112;23867824;24121507;24161344;24346702;24362031;24405603;24424093;24427328;24530529;24592539;25059065;25092867;7983002;8663294;8900201;8962078;9323209;9337844;9390557;9488720;9539746;9545235;9651578;9671712;9812896;9837928;9878060;9890966;9922454;9990849 842 F8VVS7;F8VWA5;H0Y3S8;H0Y6Y2;P55211;Q59GG2;Q5JRU2;Q5JRU8 AA534393;AB015653;AB019205;AB020979;AB209147;ABBA01004708;AF093130;AF110376;AJ781267;AK292080;AK292111;AK303743;AL512883;AMYH02000361;AMYH02000362;AY214168;AY732490;BC002452;BC006463;BT006911;CH471167;DA078665;HY027003;NG_029188;NM_001229;NM_001278054;NM_032996;NR_102732;NR_102733;U56390;U60521;XM_005246014;XR_426635 AAC50640;AAC50776;AAD12248;AAD13615;AAH02452;AAH06463;AAO21133;AAP35557;AAV33129;ABM82619;ADQ31742;BAA78780;BAA82697;BAA87905;BAD92384;BAF84769;BAF84800;BAG64715;CAH03131;EAW51730;EAW51731;NP_001220;NP_001264983;NP_127463;P55211;XP_005246071 Hs.329502 1788286;1788288;1788290;1788292;1788294;1789807;1789809;1795474;1848686;1848918;2124737;2130918;2172257;5016781 CASP9_492;G67485;G67486;G67487;G67488;G67489;RH67819;SHGC-36104;SHGC-52575;SHGC-67307;SHGC-7118;SHGC-74255;csnpcasp9-pcr4-1;csnpcasp9-pcr6-1 APAF-3;APAF3;CASP-9;CASPASE-9c;ICE-LAP6;MCH6;PPP1R56 ICE-like apoptotic protease 6;OTTHUMP00000002322;OTTHUMP00000002323;OTTHUMP00000002324;OTTHUMP00000242817;OTTHUMP00000242819;apoptotic protease MCH-6;apoptotic protease activating factor 3;apoptotic protease-activating factor 3;caspase 9;caspase 9, apoptosis-related cysteine protease;caspase-9;protein phosphatase 1, regulatory subunit 56 APPROVED protein-coding ENSG00000132906 HGNC:1511 03756 602234 REVIEWED 1347815 CATHL2 cathelicidin 2 (bactenin 5) 7589491 850 HGNC:1519 1352997 CATHL4 cathelicidin 4 (indolicidin) 7589491 852 HGNC:1521 1314005 CASP8AP2 caspase 8 associated protein 2 This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008] 6 6 6 q15 90958564 91004713 + 90539619 90584155 + 89829900 89874436 + 6480464;7421504;8554872 21784126 10235259;10537104;10718198;11340079;12168954;12477726;12477932;14702039;15069192;15342556;15489334;15561718;15592525;15698540;15840729;16627760;17003125;17003126;17245429;17370265;17696945;18038312;18408764;18677100;19406988;19414860;19471022;19546234;19573080;19593445;19615980;19773279;19854135;20109966;20237496;20697732;20801175;20936779;21139048;21245389;21338522;21693764;21696825;21725362;21906983;21988832;22216762;22427918;22595458;23071092;23086935;23673342;23953914 9994 Q9UKL3 AB037736;ABBA01040539;ABBA01040540;ABBA01040541;ABBA01040542;ABBA01040543;AF154415;AF164678;AF165161;AJ420582;AK002070;AL353692;AMYH02014090;AMYH02014091;AMYH02014092;AMYH02014093;BC012574;BC027850;BC029386;BC042577;BC056685;BC132828;BC132830;BC150274;BP192859;BP363682;CH471051;NM_001137667;NM_001137668;NM_012115 AAD45157;AAD45537;AAF03367;AAH42577;AAH56685;AAI32829;AAI32831;AAI50275;BAA92067;BAA92553;EAW48540;EAW48541;EAW48542;EAW48543;EAW48544;NP_001131139;NP_001131140;NP_036247;Q9UKL3 Hs.558218 1647315;2107911;2137787;2154316 CASP8AP2_7960;RH47433;SHGC-52865;STS-H50583 CED-4;FLASH;FLJ11208;KIAA1315;RIP25 CASP8 associated protein 2;CASP8-associated protein 2;CASP8AP2 {ECO:0000312|HGNC:HGNC:1510};FLASH homolog RIP25;FLICE associated huge;FLICE-associated huge protein;OTTHUMP00000016860;human FLASH APPROVED protein-coding ENSG00000118412 HGNC:1510 06048 606880 REVIEWED 1345684 CATHL5 cathelicidin 5 7589491 853 HGNC:1522 1344569 CATHL6 cathelicidin 6 7589491 854 HGNC:1523 1606535 CASZ1 castor zinc finger 1 The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 1 1 1 p36.22 9808055 9967917 - 10696661 10856733 - 10636604 10796676 - 6480464;8554872 12477932;14702039;15489334;16322216;16631614;16710414;17044048;17727731;17940511;18029348;18805397;19430479;20479155;21252912;21490919;21572416;21832049;22068036;22262398;22331471;23793025;23892435;24250222;24457600;8125298 54897 B3KRV8;K7EQC6;Q86V15 AA449398;ABBA01035608;ABBA01035609;ABBA01035610;ABBA01035611;ABBA01035612;ABBA01035613;ABBA01035614;AK000328;AK022285;AK092289;AK130996;AK225324;AK293839;AK311700;AL031984;AL139423;AL157717;AMYH02000273;AMYH02000274;AMYH02000275;AMYH02000276;AMYH02000277;AMYH02000278;BC004410;BC051883;CH471130;DQ217660;DQ372703;KF495869;NM_001079843;NM_017766;R85589;XM_005263479;XM_006710712 AAH04410;AAH51883;ABB29845;ABD14411;ABZ92343;BAA91089;BAC85474;BAG52520;BAH11609;EAW71662;EAW71663;NP_001073312;NP_060236;Q86V15;XP_005263536;XP_006710775 Hs.439894 1335260;1670168;1693780;1732922;1733052;1748407;1765175;1765405;1849199;2171498 AL009635;D1S1327;D1S1401;D1S2213;D1S3153;D4Ertd432e;SHGC-148685;SHGC-148892;SHGC-31243;SHGC-58917 CAS11;CST;FLJ12223;FLJ20321;RP4-734G22.2;SRG;ZNF693;dJ734G22.1 OTTHUMP00000002017;OTTHUMP00000002018;castor homolog 1, zinc finger;castor-related protein;putative survival-related protein;survival related;survival-related;zinc finger protein 693;zinc finger protein castor homolog 1 APPROVED protein-coding ENSG00000130940 HGNC:26002 07897 609895 REVIEWED 1351205 CATHL3 cathelicidin 3 (bactenin 7) 7589491 851 HGNC:1520 10291 CASR calcium-sensing receptor The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008] 3 3 3 q13 120312793 120414980 + 121902530 122005350 + 122183683 122286503 + 734699;1600616;1580863;1598940;734698;6480464;6484113;7207059;7205499;7205502;7205505;7205436;7205447;7205497;7207227;7205669;7205434;7205446;7205664;7205672;7207060;7204717;7205442;7205445;7205454;7205455;7205468;7205656;7205666;7205440;7205678;7205444;7205661;7205675;7205677;7205503;7205448;7240710;7205698;8554872;8699517 11044218;12239094;12239240;12241879;12671052;15347804;15637145;17537980;18852253;19188910;19640368;19887834;20067903;20501971;20602573;20705733;20846291;21034470;21183554;21667241;21766206;21966463;22098336;22137362;22137721;22192592;22527939;22730443;22844268;7493018;7726161;7874174;7916660;8813042;9253359 10405337;10487661;11013439;11095989;11108243;11161843;11248745;11390379;11390380;11589681;11668634;11762699;11863123;11889154;11889203;11907035;11979955;11984699;12018449;12036954;12040821;12050233;12052452;12095982;12150336;12356761;12399473;12409307;12459170;12469911;12477932;12517779;12544508;12574201;12605346;12656660;12700051;12773131;12783889;12890593;12899245;12914574;14508624;14660633;14713274;14729680;14976203;14985373;15201280;15219850;15472173;15489334;15501733;15531522;15551332;15572418;15579475;15591042;15598778;15613438;15657061;15684428;15718278;15781005;15805541;15837785;15864123;15879434;15888439;15960151;16109841;16117875;16147994;16218047;16278666;16472767;16497624;16509534;16513638;16596260;16598859;16616098;16622736;16642557;16735501;16738533;16740430;16754659;16854379;16938272;17018660;17046587;17054460;17062884;17097611;17110864;17122384;17124506;17132283;17138967;17284438;17309124;17310098;17320849;17331389;17332735;17372216;17374704;17374709;17426287;17463182;17473068;17478419;17482347;17513419;17555508;17591780;17623778;17698911;17853337;17932932;17962359;17974568;17979873;18065418;18240029;18296474;18322048;18328986;18348986;18393231;18410554;18443236;18497443;18525093;18577758;18621740;18622738;18676680;18680227;18703641;18712808;18751724;18756473;18796518;18843020;18938753;18980667;19011996;19035514;19038444;19058262;19066294;19073830;19088423;19133942;19151705;19157541;19170196;19179454;19237714;19257819;19285978;19328421;19350667;19389809;19397786;19423559;19432691;19453261;19471101;19474519;19580466;19621386;19625176;19690432;19692168;19695239;19706842;19716891;19789209;19839774;19912241;19913121;19915295;20034274;20130845;20164288;20237496;20361938;20364112;20421307;20424473;20457124;20558521;20558539;20595056;20628086;20631026;20634891;20648625;20654748;20661308;20668040;20697181;20798521;20826781;21048031;21082232;21084311;21130730;21187282;21209619;21240254;21317879;21340433;21369680;21393549;21414629;21441391;21532883;21566074;21645025;21843504;21965686;22010828;22024717;22094462;22107799;22144504;22158862;22187299;22192860;22210744;22278364;22315359;22403735;22422767;22424352;22449852;22577108;22789683;22798347;23009664;23103379;23108190;23125333;23169696;23228129;23247143;23269116;23271661;23287098;23300272;23334987;23372019;23533647;23552627;23555732;23569134;23639611;23674327;23740560;23756480;23764372;23817301;23856265;23860708;23864702;23913941;23917029;23946278;24013548;24068962;24098349;24101400;24120622;24133354;24217682;24238055;24244430;24264723;24297799;24336654;24454825;24455835;24517148;24584713;24624459;7673400;7677761;7759551;8597637;8613532;8675635;8702647;8733126;8756555;9168937;9217223;9298824;9677383;9694886;9722601;9852126;9920108;9920407 846 E7ENE0;P41180 ABBA01016471;AC068630;AC068754;AMYH02007536;AY259116;BC104999;BC112236;BP388878;CH471052;D50855;DQ088967;DQ327723;DQ327724;DQ327725;DQ327726;DQ327727;DQ327728;FJ360896;GM692549;JA910713;JB138639;NG_009058;NM_000388;NM_001178065;S68032;S68033;S68036;S79217;S81755;S83176;U20759;U20760;W56898;X81086;XM_005247836;XM_005247837;XM_006713789;XM_006713790 AAA86503;AAA86504;AAB29413;AAB29414;AAB29415;AAB35262;AAB46873;AAD14370;AAI05000;AAI12237;AAP20759;AAY68221;ABD04091;ABD04092;ABD04093;ABD04094;ABD04095;ABD04096;ACJ04039;BAA09453;CAA56990;CAV33589;CCV20013;CCW28005;EAW79490;EAW79491;EAW79492;NP_000379;NP_001171536;P41180;XP_005247893;XP_005247894;XP_006713852;XP_006713853 Hs.435615 1655751;1688126;1699736;1709796;1712741;1738925;1763765;1772873 D3S3193;RH103474;RH121068;RH99210;SHGC-147441;SHGC-35350;SHGC-77256;SHGC-84714 CAR;EIG8;FHH;FIH;GPRC2A;HHC;HHC1;HYPOC1;MGC138441;NSHPT;PCAR1 OTTHUMP00000215576;OTTHUMP00000215577;extracellular calcium-sensing receptor;parathyroid Ca(2+)-sensing receptor 1;parathyroid cell calcium-sensing receptor;parathyroid cell calcium-sensing receptor 1 APPROVED protein-coding ENSG00000036828 HGNC:1514 03122 145980;146200;239200;601198;601199;612899 REVIEWED 1343768 CATR1 CATR tumorigenicity conversion 1 7604004 856 Q13166 U25433 2114498 SHGC-35496 HGNC:1525 600676 8699371 CATIP-AS2 CATIP antisense RNA 2 q35 12107412 103689911 AC021016;CD672221;NR_125777 ncrna HGNC:41079 VALIDATED 1602043 CATIP ciliogenesis associated TTC17 interacting protein INVOLVED IN actin filament polymerization; cilium organization; FOUND IN actin cytoskeleton; cytoplasm; nucleus 2 2 2 q35 212988189 212999428 + 219221579 219233003 + 218356856 218368110 + 12477932;17207965;21832049;24475127 375307 Q7Z7H3 ABBA01023871;AC021016;AMYH02005791;BC052750;CH471063;NM_198559;XM_005246539;XM_005246540;XM_005246541 AAH52750;ADQ33106;EAW70610;NP_940961;Q7Z7H3;XP_005246596;XP_005246597;XP_005246598 Hs.645453 C2orf62;MGC50811 OTTHUMP00000164138;hypothetical protein LOC375307;uncharacterized protein C2orf62 APPROVED protein-coding ENSG00000158428 HGNC:25062 11846 PROVISIONAL 732740 CAT catalase This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009] 11 11 11 p13 34607658 34640793 + 34460472 34493607 + 34438925 34472060 + 1581147;1581148;1581149;1581150;1581151;1300375;1300048;1580863;2317410;5130200;5130770;5130747;5130748;5130873;5130750;4293707;5130744;5130751;5130752;5130864;5130871;5130856;5130199;5130201;5130202;5130768;5130869;5130749;5130891;5130753;5130760;5130761;5130771;5130772;5130773;5130860;5130875;5130876;5130878;5130745;5130755;5130756;5130867;6480464;6907045;7240710;7205651;7205676;7205647;7205662;7205663;7205665;6892947;7206853;7205671;8547516;9479744;8158049;9479054;9068921;9479742;9068947;9068923;9068909;9068932;9479155;9479159;9479160;9479189;8655636;9479152;9479169;9068474;9479170;9480233;8699517;9107626;9479048;9479149;9068934;9479063;9479066;9068881;9479167;8547520;9479745;9479162;9479168;9479150;9479064;9071200;9068908;9479158;9068475;9068882;9068907;9479068;1580833;9479165;9068931;9068893;9068906;9086875;9479056;9479166;9479747;9068479;9068905;9479069;9479188;9068874;9068926;9197256;9226881;9479151;7401215;9190810;9068911;9068919;9068922;8655661;9479743 10220857;10450379;10569634;10618301;10652196;11349462;11408722;11510883;11678164;12165738;12357295;12499913;12602965;12919155;14575298;14580687;14710000;15109710;15158621;15224238;15295623;15735318;15836852;16287205;16489259;16622028;16716903;16718367;16804020;16938375;17206395;17401513;1747937;17514533;17567781;17693525;17884035;17895592;18048809;18055782;18212468;18353692;18793622;18987486;19151196;19188683;19196076;19273541;19293779;19298531;19373626;19439879;19445928;19475625;19675389;19693467;19778612;19842849;19895324;19897513;19914224;19959187;20007347;20080081;20204550;20299359;20372767;20376213;20394549;20493834;20534640;20613769;20653246;20685819;20888583;21190578;21213399;21305585;21314438;21339256;21452373;21463646;21471094;21517247;21525431;21541033;21557843;21635889;21686137;21978706;22135646;22173336;22315314;22443450;22509733;22532869;22574884;22733796;22738420;2308162;23096233;23174057;23179931;23182154;23232760;23658840;23781296;23868633;23952340;23961996;24001414;24018880;24092995;25050522;9758419;9892499 10096042;10488055;10514471;10567208;10567403;10656833;10666617;10960480;11106583;11134921;11182520;11313354;11479740;11728823;11729237;11837458;11907164;12032677;12110367;12231449;12372460;12447480;12468545;12469627;12477932;12487379;12516882;12603857;12606529;12665801;12730222;12777400;12824748;12838770;12950161;13904105;14710363;14962975;14975589;15125229;15131792;15133753;15182856;15203188;15472150;15489334;1551654;15528999;15556604;15705913;15733034;15774926;15800961;15870505;15934434;15988600;16026777;16047490;16076760;16098030;16192345;16204228;16210410;16236267;16298864;16385446;16387755;16424062;16453382;16467073;16482509;16504657;16523188;16554811;16586065;16600249;16630078;16644728;16729966;16773213;16775184;16781659;16868544;16956821;17005595;17053817;17145829;17171548;17209132;17213227;17264407;17548672;17549373;17566139;17567676;17577741;17601350;17634480;17646900;17696155;17850515;17879952;17937824;18171680;18248894;18312938;18368408;18379038;18415766;18423055;18469277;18483329;18485895;18606005;18634817;18682580;18781797;18930811;18936436;18949620;18977241;19050255;19064360;19092850;19124506;19170196;19172437;19242068;19254215;19255063;19274593;19336475;19341793;19399816;19409565;19424819;19479899;19497990;19505917;19538885;19584075;19615732;19622717;19625176;19688952;19692168;19705749;19731237;19787204;19855359;19863340;19874574;19896490;19897742;19902075;19913121;19929244;19949914;20020532;20049130;20078877;20082261;20097730;20105444;20109103;20110814;20178365;20194081;20301895;20416077;20444272;20485444;20494887;20628086;20643115;20649881;20727719;20732340;20851292;20878976;20923778;21053180;21054578;21054877;21069346;21083503;21109199;21131394;21139048;21179281;21180245;21191398;21295602;21417634;21689642;21799178;21827848;21829032;21832049;21890473;21906983;21921984;21947853;21964540;21968610;21976670;21985133;21985966;21988832;22002062;22058000;22089180;22108257;22167619;22242279;22286031;22465269;22556393;22645453;2268310;22736749;22880027;22907559;22939629;22958044;22959522;22970972;22998821;23066387;23098659;23212700;23325794;23340375;23390647;23425094;23461612;23701472;23746122;23771908;23773345;23827365;23828460;23911407;24057136;24215654;24583396;24630930;24816145;24824229;2991908;3755525;3755526;3944256;6252821;6548744;7829101;8282800;8479912;9818873;9848047 847 P04040;Q8TAK2 ABBA01060865;AK291585;AK301577;AK310184;AK315350;AL035079;AMYH02024585;AMYH02024586;AW023382;AY028632;AY545477;BC027300;BC110398;BC112217;BC112219;BI551632;CA748580;CH471064;K02400;KF455362;L13609;NG_013339;NM_001752;X04076;X04085;X04096 AAA16651;AAB59522;AAH27300;AAI10399;AAI12218;AAI12220;AAK29181;AAS37679;ADR83058;BAF84274;BAG37746;BAG63070;CAA27717;CAA27721;EAW68170;EAW68171;NP_001743;P04040 Hs.502302 1664950;1671591;1675714;1691346;1718063;1741589;1742569;1748229;1748231;1748233;1748235;1748237;1760133;1795476;2131494;2143706;2146784;2151707 CAT_1268;D11S4340;G66721;G66722;G66723;G66724;G66725;GDB:181548;GDB:197896;RH122649;RH26629;RH27361;RH45987;RH78515;SHGC-132034;STS-H15685;STS-X04076;WI-19159 MGC138422;MGC138424 OTTHUMP00000041455 APPROVED protein-coding ENSG00000121691 HGNC:1516 00282 115500;614097 REVIEWED 8166687 CATIP-AS1 CATIP antisense RNA 1 2 2 q35 219231388 219231750 - 218366665 218367835 - 101928513 ABBA01023871;AC021016;AMYH02005791;BC038211;CB528646;HY001981;NR_110573;XR_241417;XR_249313;XR_249314;XR_251286;XR_251287;XR_425537;XR_425538;XR_431541;XR_431542 Hs.512386 ncrna ENSG00000225062 HGNC:41080 VALIDATED 1313883 CATSPER3 cation channel, sperm associated 3 ENCODES a protein that exhibits calcium activated cation channel activity (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); multicellular organism reproduction (inferred); multicellular organismal development (inferred); FOUND IN CatSper complex (ortholog); INTERACTS WITH quercetin; pirinixic acid (ortholog) 5 5 5 q31.1 130427337 130471182 + 134303596 134347397 + 134967906 135011707 + 1580863;6480464 12477932;12646162;12932298;16382101;17227845;18391951;23263487;23333304;23568457;23666240 347732 Q86XQ3 ABBA01068730;AC004764;AC008406;AC008670;AF432876;AK292427;AMYH02012253;AW008956;AY156951;BC101692;BC110384;BI827754;BN000272;CH471062;NM_178019 AAI01693;AAI10385;AAO13012;AAO85416;BAF85116;CAE30476;EAW62228;NP_821138;Q86XQ3 Hs.631804 1778009;1780656;2126389 RH69300;SGC30875;bac51529T CACRC;MGC126741 OTTHUMP00000159408;ca(v)-like protein;calcium channel repeat containing 1;cation channel sperm-associated protein 3;one-repeat calcium channel-like protein;putative ion channel CatSper3 protein-coding ENSG00000152705 HGNC:20819 16447 609120 VALIDATED 1604493 CATSPERD catsper channel auxiliary subunit delta INVOLVED IN sperm capacitation (ortholog); sperm motility (ortholog); spermatogenesis (ortholog); FOUND IN CatSper complex (ortholog); sperm principal piece (ortholog); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 19 19 19 p13.3 5658055 5716734 + 5720688 5778742 + 5720677 5778731 + 6480464 12477932;20379614;21224844;24250222 257062 Q86XM0 ABBA01055991;ABBA01055992;ABBA01055993;ABBA01055994;ABBA01055995;ABBA01055996;ABBA01055997;ABBA01055998;AC011499;AK128088;AMYH02035332;AMYH02035333;AMYH02035334;AMYH02035335;AMYH02035336;AMYH02035337;BC031233;BC043005;CH471139;KF456483;KF456486;NM_152784 AAH31233;AAH43005;EAW69148;EAW69149;EAW69150;NP_689997;Q86XM0 Hs.631842 5014051;5015619;5016596;5016700;5022200;5037552 D11S3114;D8S2278;D8S2279;GDB:631802;L18426;RH79802 MGC39581;TMEM146 OTTHUMP00000183708;OTTHUMP00000183709;catSper-delta;catSperdelta;cation channel sperm-associated protein subunit delta;transmembrane protein 146 APPROVED protein-coding ENSG00000174898 HGNC:28598 17541 VALIDATED 1350186 CATSPER4 cation channel, sperm associated 4 ENCODES a protein that exhibits calcium activated cation channel activity (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); cation transmembrane transport (inferred); multicellular organism reproduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN CatSper complex (ortholog); INTERACTS WITH arsenous acid; diarsenic trioxide; 4,4'-diaminodiphenylmethane (ortholog) 1 1 1 p35.3 24913482 24925399 + 26517119 26529033 + 26190628 26202542 + 6480464;8554872 12477932;12932298;16382101;17227845;19343178;20546612 378807 J3KNU1;Q7RTX7 ABBA01034899;AL355877;AMYH02000555;BC128138;BC128139;BC144663;BN000273;CH471059;NM_198137 AAI28139;AAI28140;CAE30475;EAX07839;NP_937770;Q7RTX7 Hs.123532 1672198;1685343;1732890;2107941;2163704;5019647 A006D29;CNKSR1_9077;D1S1309;G32327;RH92197;STS-R48282 MGC149223 OTTHUMP00000008765;OTTHUMP00000228342;OTTHUMP00000228343;cation channel sperm-associated protein 4;ion channel CatSper4 protein-coding ENSG00000188782 HGNC:23220 18607 609121 VALIDATED 1321252 CATSPER1 cation channel, sperm associated 1 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 63108580 63118345 - 65784223 65793988 - 66016752 66026517 - 1580863;6480464;7240710;8554872;8699517 11595929;11595941;11675491;12477932;14688170;16189514;16382101;16625279;16740636;18976756;19344877;20301780;20648059;21404705;21412338;21412339;22354039;23313885;23344959;23530196;23623968 117144 Q8NEC5 ABBA01024093;AF407333;AMYH02024968;AP006287;BC032950;BC036522;CH471076;NG_016285;NM_053054;XM_005273755;XR_428908;XR_428909 AAH32950;AAH36522;AAL14105;EAW74488;EAW74489;NP_444282;Q8NEC5;XP_005273812 Hs.189105 MGC33335;MGC33368;SPGF7 CATSPER;OTTHUMP00000233989;cation channel sperm-associated protein 1;hCatSper;sperm ion channel;sperm-associated cation channel 1 APPROVED protein-coding ENSG00000175294 HGNC:17116 09396 606389;612997 REVIEWED 1316921 CATSPER2 cation channel, sperm associated 2 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014] 15 15 15 q15.3 20691389 20709656 + 43922772 43941039 - 43630562 43648845 - 1580863;6480464 11595929;11675491;12477932;14702039;16382101;16740636;17207965;20301780;20379614;23519396 117155 B8ZZQ9;E7EX46;F8W9H2;H7BZ89;H7C2X6;Q96P56 ABBA01049637;ABBA01049638;AC011330;AF411817;AF411818;AF411819;AK093318;AK122607;AMYH02030317;AW135409;BC028728;BC064387;BM998110;BX648099;CH471308;NG_009283;NM_001282309;NM_001282310;NM_054020;NM_172095;NR_110319 AAH28728;AAH64387;AAL26490;AAL26491;AAL26492;ADQ32834;BAG53620;EAW50798;EAW50801;EAW50802;NP_001269238;NP_001269239;NP_473361;NP_742093;Q96P56 Hs.662284 1799086;1801674;1805630;1810882;1811414;1811656;1811982;1812056;1817178;1818190;1819356;1819688;1820688;1822272;1823790;1826022;1826114;1826116;1826206;1833094;1833560;1834894;1838602;1840486;1842610;1844786;1845826;1933032;1933034;1933036;1933038;1933040;1933042;1933044;1933046;1933048;1933050;1933052;1933054;1933056;1933058;1933060;1933062;1933064;1933066;1933068;1933070;1933072;1933074;1933076;1933078;1933080;1933082;1933084;1933086;1933088;1933090;1933092;1933094;1933096;1933098;1933100;1933102;1933104;1933106;1933108;1933110;1933112;1933114;1933116;1933118;1933120;1933122;1933124;1933126;1933128;1933130;1933132;1933134;1933136;1933138;1933140;1933142;1933144;1933146;1933148;1933268;1933276;1933278;1933286;1933300;1933302;1933312;1933318;1933356;2208940;2208942;2208944;2208946;2208948;2208950;2208952;2208954;2208956;2208958;2208960;2208962;2209022;2209024;2209026;2209030;2209032;2218338;5014003;5022651;5037552 CATSPER2_4515;D11S2921;D17S1136;D8S2279;ECD00389;ECD01716;ECD03765;ECD06439;ECD06705;ECD06831;ECD06996;ECD07033;ECD09639;ECD10152;ECD10745;ECD10911;ECD11419;ECD12222;ECD12987;ECD14120;ECD14166;ECD14167;ECD14214;ECD17689;ECD17923;ECD18597;ECD20475;ECD21429;ECD22512;ECD23609;ECD24132;REN37348;REN37349;REN37350;REN37351;REN37352;REN37353;REN37354;REN37355;REN37356;REN37357;REN37358;REN37359;REN37360;REN37361;REN37362;REN37363;REN37364;REN37365;REN37366;REN37367;REN37368;REN37369;REN37370;REN37371;REN37372;REN37373;REN37374;REN37375;REN37376;REN37377;REN37378;REN37379;REN37380;REN37381;REN37382;REN37383;REN37384;REN37385;REN37386;REN37387;REN37388;REN37389;REN37390;REN37391;REN37392;REN37393;REN37394;REN37395;REN37396;REN37397;REN37398;REN37399;REN37400;REN37401;REN37402;REN37403;REN37404;REN37405;REN37406;REN37467;REN37471;REN37472;REN37476;REN37483;REN37484;REN37489;REN37492;REN37511;stSG627831;stSG627832;stSG627833;stSG627835;stSG627836;stSG627837;stSG627838;stSG627840;stSG627841;stSG627842;stSG627843;stSG627845;stSG627910;stSG627911;stSG627912;stSG627914;stSG627917 MGC33346 OTTHUMP00000066276;OTTHUMP00000066277;OTTHUMP00000066278;OTTHUMP00000199626;cation channel sperm-associated protein 2;sperm ion channel APPROVED protein-coding ENSG00000166762 HGNC:18810 16236 607249 REVIEWED 1625093 CATSPER2P1 cation channel, sperm associated 2 pseudogene 1 Catsper genes belong to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. This gene is part of a tandem repeat on chromosome 15q15; this copy of the gene is thought to be a pseudogene. [provided by RefSeq, Oct 2008] 15 15 15 q15.3 20917594 20927959 - 44028132 44038496 - 43735934 43746298 - 6480464 12477932;12825070;17098888;18085818;18974790 440278 ABBA01039224;ABBA01039225;ABBA01039226;AC018512;AMYH02030324;BC047442;BC052612;BC066967;NR_002318 Hs.253260 1798698;1799086;1801048;1805630;1810882;1811656;1817956;1818400;1819356;1819688;1834894;1837116;1838908;1841470;1842610;1844552;1844786;1933092;1933096;1933112;1933114;1933120;1933122;1933126;1933132;1933144;1933156;1933302;1933304;1933306;1933308;1933310;1933312;1933314;1933316;1933318;1933320;1933322;1933324;1933326;1933328;1933330;1933332;1933334;1933336;1933338;1933340;1933342;1933344;1933346;1933348;1933350;1933352;1933354;1933356;1933358;1933360;1933362;1933364;1933366;1933368;1933370;1933372;1933374;2208950;2208954;2208962;2209026;2209028;2209030;2209032;2209034;2209036;2209038;2218338 CATSPER2_4515;ECD00189;ECD00389;ECD01392;ECD03765;ECD06439;ECD06831;ECD10033;ECD10258;ECD10745;ECD10911;ECD18597;ECD19723;ECD20633;ECD21931;ECD22512;ECD23490;ECD23609;REN37378;REN37380;REN37388;REN37389;REN37392;REN37393;REN37395;REN37398;REN37404;REN37411;REN37484;REN37485;REN37486;REN37487;REN37488;REN37489;REN37490;REN37491;REN37492;REN37493;REN37494;REN37495;REN37496;REN37497;REN37498;REN37499;REN37500;REN37501;REN37502;REN37503;REN37504;REN37505;REN37506;REN37507;REN37508;REN37509;REN37510;REN37511;REN37512;REN37513;REN37514;REN37515;REN37516;REN37517;REN37518;REN37519;REN37520;stSG627837;stSG627840;stSG627845;stSG627912;stSG627913;stSG627914;stSG627917;stSG627918;stSG627919;stSG627922 APPROVED pseudo ENSG00000205771 HGNC:31054 VALIDATED 1344208 CAV3 caveolin 3 This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008] 3 3 3 p25 8710271 8723238 + 8775486 8788451 + 8733800 8746765 + 1599529;1582168;1599542;1580863;6480464;6484113;6907045;7240710;8554872;8699517 12566108;15925413;9537420 10066366;10386585;10746614;10835421;10988290;11001938;11115849;11251997;11431690;11532985;11756609;11805270;11821059;11884389;11904769;12082049;12387816;12477932;12557291;12648214;12666119;12839838;12847114;12939441;14600260;14663034;14672715;14729862;14749532;14981167;15099591;15489334;15541368;15564037;15580566;15668980;15682833;15703204;16082247;16247063;16458928;16479074;16521037;16563233;16770780;17039257;17060380;17210839;17275750;17307729;17405141;17524427;17537631;17615539;18253147;18487559;18509671;18583131;18671188;18930476;18936328;18985008;19101541;19219452;19238754;19380584;19481058;19544087;19584897;19773168;19913121;20201926;20229577;20301308;20301559;20301582;20301725;20346360;20472890;20558763;20628086;21084288;21294223;21362533;21362625;21496630;21988832;22236542;22879586;23071107;23237801;23311301;23465283;23541953;23640888;24021552;7797570;8567687;9252390;9353265;9374534;9536092;9545514;9756945 859 P56539 AA993189;ABBA01020417;AC068312;AF036365;AF036366;AF036367;AF043101;AF204690;AK291892;AMYH02006221;BC069368;BC102033;BC102036;BC102037;BF310794;BX114193;CH471055;NG_008797;NM_001234;NM_033337;Y14747 AAC14931;AAC39756;AAC39758;AAG02025;AAH69368;AAI02034;AAI02037;AAI02038;BAF84581;CAA75042;EAW63945;EAW63946;NP_001225;NP_203123;P56539 Hs.98303 1338032;1687642;2218340 CAV3_2400;D3S1597;RH92828 LGMD1C;LQT9;MGC126100;MGC126101;MGC126129;VIP-21;VIP21 M-caveolin;OTTHUMP00000115603;OTTHUMP00000207105;caveolin-3 APPROVED protein-coding ENSG00000182533 HGNC:1529 03154 123320;192600;601253;606072;607801;611818;614321 REVIEWED 1343117 CAV2 caveolin 2 The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011] 7 7 7 q31.1 110946853 110956001 + 116139655 116148595 + 116499601 116508541 + 1600654;1625364;1580863;6480464;6784517;6784520;6484113;6907045;8661770;8661771;8661774 16258026;17060028;20558341;22492718;22528460;23743525;24572674 10087206;10212252;10218480;10464308;10675563;10675615;10817676;11076863;11238462;11256614;11294831;11515846;11752456;12091389;12138116;12414992;12477932;12496259;12633858;12648214;12690205;12743374;12782592;12813462;12866378;1360410;15230350;15489334;15489336;15504032;15569306;15583422;15703204;15788404;15968725;16169070;16244790;16341674;16344560;16381901;16521037;16799092;16904002;17081983;17192395;17567994;17615539;17671707;17898556;17912630;18081315;18187620;18976975;19913121;19931615;19948975;20062060;20209490;20346360;20628086;20819778;20835238;21139048;21178094;21321670;21373752;21489836;21551225;21873608;21900206;22236542;22819829;23056496;23667606;7479780;7829101;8552590;9361015;9707634;9801158;9837809 858 E9PCT3;P51636;Q53X57 AA878149;AA883287;AB451285;AB451417;ABBA01057808;AC006159;AF035752;AI762868;AJ011300;AJ133269;AJ242718;AK024513;AK310786;AK311964;AMYH02016626;AV650449;AW022298;AY353255;BC005256;BM542127;BM762545;BT007051;BX350116;CH236947;CH471070;CR407685;DA882274;DQ656068;NG_029920;NM_001206747;NM_001206748;NM_001233;NM_198212 AAB88492;AAH05256;AAP35700;AAQ57600;BAG34904;BAG70099;BAG70231;CAB36907;CAB63653;CAB65090;CAG28613;CAL38690;EAL24361;EAL24362;EAW83499;EAW83500;EAW83501;EAW83502;NP_001193676;NP_001193677;NP_001224;NP_937855;P51636 Hs.212332;Hs.603096 1676476;1797348;1802708;1803184;1803692;1805770;1813864;1813938;1816738;1826650;1836322;1838350;1845638;1848956;1851284;1991982;1991984;1991986;1991988;1991990;1991992;1991994;1991996;1991998;1992000;1992002;1992004;1992006;1992008;1992010;1992012;1992014;1992016;1992018;1992020;1992022;1992024;1992026;1992028;1992030;1992032;1992034;1992036;1992038;1992040;1992042;1992044;1992046;1992048;1992050;1992052;1992054;1992056;1992058;1992060;2093226;2093228;2093230;2093232;2093234;2093236;2093238;2143975;5015619;5022234;5022578;5037552 CAV2_2353;D11S3114;D1S1423;D7S2814;D8S2279;ECD02241;ECD02483;ECD02752;ECD03836;ECD07958;ECD07996;ECD09413;ECD14439;ECD19323;ECD20349;ECD24037;L17708;REN66896;REN66897;REN66898;REN66899;REN66900;REN66901;REN66902;REN66903;REN66904;REN66905;REN66906;REN66907;REN66908;REN66909;REN66910;REN66911;REN66912;REN66913;REN66914;REN66915;REN66916;REN66917;REN66918;REN66919;REN66920;REN66921;REN66922;REN66923;REN66924;REN66925;REN66926;REN66927;REN66928;REN66929;REN66930;REN66931;REN66932;REN66933;REN66934;REN66935;RH65870;RH80255;STS-U32114;stSG597940;stSG597942;stSG597943;stSG597945;stSG597946;stSG597947;stSG597948 CAV;MGC12294 OTTHUMP00000025032;OTTHUMP00000195982;caveolae protein, 20-kD;caveolin 2 isoform a and b;caveolin-2 1643439 BW101_H APPROVED protein-coding ENSG00000105971 HGNC:1528 03029 601048 REVIEWED 1322128 CATSPERG catsper channel auxiliary subunit gamma CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010] 19 19 19 q13.1 35628680 35663824 + 38826443 38861589 + 38335803 38370949 + 737633;6480464;8554872 12477932 14702039;16344560;19516020;22118674;22990118 57828 B8ZZI7;F8WDD6;H9KV36;K7EQR6;K7EQY4;M0QZ16;O75294;Q32MQ2;Q6ZRH7;X1WI24 ABBA01040680;AC005625;AC005789;AC026806;AK096218;AK128039;AK128220;AK310460;AL133023;AMYH02036068;AMYH02036069;AMYH02036070;AW072458;BC033852;BC060889;BC094785;BC109035;BG719195;CH471126;DB096694;NM_021185;XM_005259114;XM_005259115;XM_005259116;XM_005259117;XM_005259118;XM_006723308;XM_006723309;XM_006723310;XM_006723311 AAC34570;AAC34571;AAI09036;BAC87333;CAH56391;EAW56777;EAW56778;EAW56779;EAW56780;EAW56781;EAW56782;EAW56783;NP_067008;Q6ZRH7;XP_005259171;XP_005259172;XP_005259173;XP_005259174;XP_005259175;XP_006723371;XP_006723372;XP_006723373;XP_006723374 Hs.324335 1677895;1719517;5014019;5015404;5016851;5020414;5020946;5022383;5037552;5109281 D1S1425;D5S2354;D8S2279;ECD04345;L17688;L17705;L17971;RH123479;RH80031;RH92232 C19orf15;DKFZp434A1022;FLJ38899;FLJ46353;MGC125664 OTTHUMP00000203420;OTTHUMP00000203421;OTTHUMP00000203422;OTTHUMP00000203424;cation channel sperm-associated protein subunit gamma;cation channel, sperm-associated, gamma APPROVED protein-coding ENSG00000099338 HGNC:25243 12698 613452 VALIDATED 1345422 CATSPERB catsper channel auxiliary subunit beta INVOLVED IN cell differentiation (inferred); multicellular organism reproduction (inferred); multicellular organismal development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN CatSper complex (ortholog); INTERACTS WITH progesterone 14 14 14 q32.12 72095740 72251049 - 92046728 92198413 - 91580774 91732069 - 6480464;8554872 10737800;12477932;14702039;17081983;17478420;20164292;20967262 79820 B3KWW9;G3V2V0;G3V352;G3V3V9;G3V584;H0YJA5;Q9H7T0 ABBA01030472;ABBA01030473;ABBA01030474;AC215700;AK024360;AK126034;AL121839;AL133373;AMYH02029747;AMYH02029748;AMYH02029749;AMYH02029750;AMYH02029751;AX883951;BC016315;BC126214;BC126216;BE695220;CH471061;FY210737;FY211725;FY212048;FY212994;NM_024764 AAI26215;AAI26217;BAB14896;BAG54281;CAE92175;EAW81460;NP_079040;Q9H7T0 Hs.131755 1338522;1679177;1725545;1732001;1748757;1759151;1760491;1775766;2120016;2158511;2164412 D14S280;D14S300;G35406;G35485;G35722;G36228;RH119171;RH99035;SHGC-110388;SHGC-1415;SHGC-143431 C14orf161;CatSper(beta);FLJ14298 OTTHUMP00000245150;catSper-beta;cation channel sperm-associated protein subunit beta;cation channel, sperm associated beta;cation channel, sperm-associated, beta APPROVED protein-coding ENSG00000133962 HGNC:20500 16613 611169 VALIDATED 619568 CAV1 caveolin 1, caveolae protein, 22kDa The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010] 7 7 7 q31.1 110972249 111008654 + 116164839 116201239 + 116524785 116561185 + 1581152;1581153;1581154;1600654;1625360;1625364;1580863;2289101;2289102;2289112;2289109;2289124;2289103;2289106;2289110;2289111;2289113;2289120;2289125;2289100;2289104;2289105;2289107;2289116;2289123;2296031;6480464;6784517;6784532;6784520;6784526;6484113;6907045;7240710;8661766;8661809;8661782;8554872;8661778;8662276;8662277;8661786;8661768;8661770;8661775;8661776;8661765;8699517;8661783;8661784;8661777;8661780;8661767;8661773;8661774;8661794;8662275;8661779;8661789;8661787;8661769 11032026;11170154;11289096;11529503;11751529;12366416;12368209;12866378;14506154;15247769;15334058;15353500;15355971;15375584;15948133;16258026;16328005;16417587;17060028;17234162;17275798;17293479;17470567;17487232;17786030;17915016;17952758;17986358;18759267;19675140;19828204;20835238;20881564;21585620;21795534;21909981;21965771;22007835;22134245;22402147;22492718;22528460;22876122;22954805;23051628;23267770;23538027;23675421;23743525;23764359;24329494;24572674;9685399 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857 A9XTE5;C9JKI3;E9PCT5;F8WDM7;Q03135;Q2TNI1;Q59E85;Q7Z4F3 AB209926;AB451284;AB451416;ABBA01057807;ABBA01057808;AC006159;AF019742;AF070648;AF074993;AF095591;AF095592;AF095593;AF125348;AF172085;AI878826;AJ133269;AK290871;AK307501;AL133639;AMYH02016626;AMYH02016627;AMYH02016628;AMYH02016629;AY762103;BC006432;BC009685;BC082246;BG170208;BT007143;CH236947;CH471070;DA477166;DA943080;DB266251;EF179102;EF649773;EF649774;NG_012051;NM_001172895;NM_001172896;NM_001172897;NM_001753;Z18951 AAB82538;AAD23745;AAD34722;AAH09685;AAH82246;AAP35807;AAQ13608;AAX07830;ABM81573;ABM84753;ABW03274;ABW22625;ABW22626;BAD93163;BAF83560;BAG70098;BAG70230;CAA79476;CAB63654;CAL38555;EAL24360;EAW83503;EAW83504;EAW83505;NP_001166366;NP_001166367;NP_001166368;NP_001744;Q03135 Hs.74034 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BSCL3;CAV;CGL3;LCCNS;MSTP085;PPH3;VIP21 OTTHUMP00000025031;OTTHUMP00000195988;OTTHUMP00000195989;OTTHUMP00000196475;OTTHUMP00000198308;caveolin-1;cell growth-inhibiting protein 32 APPROVED protein-coding ENSG00000105974 HGNC:1527 03028 601047;606721;612526;615343 REVIEWED 1319231 CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008] 20 20 20 q11 28831000 28990870 + 32077928 32237837 + 33490122 33650031 + 1580863;6480464;8554872 10675041;11780052;12242670;12477932;14703694;15146197;15302935;15333839;15489334;16189514;16227606;16407974;16713569;16966434;18586123;19026687;19060904;20211142;20520637;21832049;21988832;22443175;22498736;9447981;9787195;9790752 9139 O43439;Q68DC6 AB209306;ABBA01019224;ABBA01019225;ABBA01019226;ABBA01019227;ABBA01019228;ABBA01019229;ABBA01019230;AF013970;AF039200;AF052210;AF052211;AF052212;AF068266;AF069747;AF076452;AK294168;AK307887;AK314159;AL034421;AL121906;AL162505;AMYH02036953;AMYH02036954;AMYH02036955;AMYH02036956;AMYH02036957;BC015066;BC016298;BC040344;CB998035;CH471077;CN347014;CR749462;KF456880;NM_001032999;NM_001039709;NM_005093;XM_006723886;XM_006723887 AAC17499;AAC19378;AAC39841;AAC64699;AAC64700;AAD02825;AAD41221;AAH15066;AAH16298;AAH40344;ABZ92457;ADZ15879;BAD92543;BAG36843;BAG57490;CAH18294;EAW76311;EAW76312;EAW76313;NP_001028171;NP_001034798;NP_005084;O43439;XP_006723949;XP_006723950 Hs.153934 1340073;1646524;1646526;1665442;1691604;1693348;1698658;1735006;1759673;1847943;2120842;2125577;2144188;2145511;2152036;2154841;2158757;2167380;2170936;2174444;2185541;5022450;5022651;5037552;5109281;5121147 A001X17;AL032536;AL034532;CHLC.GATA24A11;D10S275;D11S2921;D1S1425;D20S1071;D20S552E;D20S554E;D20S734;D20S815;D20S890;D8S2279;G06317;G18081;G19744;G31204;RH102888;RH11816;RH16591;RH18390;SHGC-150946;SHGC-7112;T15360;Z94436 DKFZp313F2116;EHT;MTGR1;ZMYND3;p85 ETO homolog on chromosome 20;ETO homologous on chromosome 20;MTG8-like protein;MTG8-related protein 1;OTTHUMP00000030653;OTTHUMP00000030654;OTTHUMP00000030656;myeloid translocation gene-related protein 1;myeloid translocation-related protein 1 APPROVED protein-coding ENSG00000078699 HGNC:1536 04721 603672 REVIEWED 1348062 CBLN1 cerebellin 1 precursor This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008] 16 16 16 q12.1 33823798 33827712 - 49311828 49315742 - 49277917 49281831 - 1580863;6480464 10022429;10688962;10964938;12477932;15146197;15489334;17030622;1704129;20200953;22117778;24133439;2760624;7877445 869 H3BQD0;P23435 ABBA01000896;AC007614;AI147523;AK314276;AMYH02031996;BC093692;BC093718;CH471092;CN281334;M58583;NM_004352;R50764 AAA35676;AAH93692;AAH93718;BAG36936;EAW82731;NP_004343;P23435 Hs.458423 1649859;1658512;1663922;1774671;2107915;2165697;2171051;5492296 CBLN1_8243;Cbln1;D16S2661;D16S2966;G15895;RH69147;SHGC-60729;SHGC-60807 OTTHUMP00000164195;cerebellin-1;precerebellin APPROVED protein-coding ENSG00000102924 HGNC:1543 02697 600432 VALIDATED 1321512 CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] 16 16 16 q24 74009858 74110779 - 88941263 89043568 - 88874855 88977156 - 1580863;6480464;8554872 11533236;11823486;11999578;12183414;12213200;12242670;12477932;14702039;14703694;15231665;15342556;16407974;16966434;17203973;18456661;18586123;18656694;18950503;19497860;20116376;20138877;20150326;20603019;21988832;22010104;22420028;22443175;22498736;23127762;23153540;23251453;23840896;24127550;24133439;9447981;9596646;9790752 863 H3BMZ0;H3BNH2;H3BNI7;H3BR72;H3BSI4;H3BU07;J3QRB1;O75081 AB010419;AB010420;AB013286;ABBA01013588;ABBA01013589;ABBA01013590;ABBA01013591;ABBA01013592;AC092384;AF052213;AF052214;AF052215;AF052216;AF052217;AF052220;AK090985;AK097904;AK308355;AK314766;AMYH02032649;AMYH02032650;AMYH02032651;AMYH02032652;AMYH02032653;AMYH02032654;BC009554;BC047019;BC062624;BE243049;BE676580;BP282804;CH471184;HI573916;HI573918;NG_029533;NM_005187;NM_175931;XM_005256323;XM_006721319;XM_006721320 AAC64698;AAC64701;AAC64702;AAH47019;AAH62624;ABZ92419;BAA29061;BAA29062;BAA31276;BAA31277;BAG37304;BAG52257;CBX47447;CBX47448;EAW66746;EAW66747;EAW66748;EAW66749;EAW66750;EAW66751;EAW66752;NP_005178;NP_787127;O75081;XP_005256380;XP_006721382;XP_006721383 Hs.513811 1666229;1678241;1716377;1762953;1764563;2131458 RH121368;RH93203;SHGC-146703;SHGC-148155;SHGC-61188;SHGC-64049 ETO2;MTG16;MTGR2;ZMYND4;hMTG16 MTG8-related gene 2;MTG8-related protein 2;OTTHUMP00000175195;OTTHUMP00000175196;myeloid translocation gene 8 and 16b;myeloid translocation gene on chromosome 16 protein;zinc finger MYND domain-containing protein 4 APPROVED protein-coding ENSG00000129993 HGNC:1537 04847 603870 REVIEWED 1316966 CBLC Cbl proto-oncogene C, E3 ubiquitin protein ligase This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 19 19 19 q13.2 42085488 42107328 + 45281126 45303903 + 44777869 44800646 + 1580863;6480464;6907045;8554872 10086340;10362357;10571044;10737800;12024036;12177062;12226085;12234920;12244174;12477932;12711395;14661060;15117950;15302935;18753381;19549727;20525694;21900206;21906983;21988832;22315494;22493164;22888118;23105109;23145173;24466333;24831009;9824625;9988270 23624 Q9ULV8 AB028645;ABBA01040884;ABBA01040885;AC092066;AF117646;AF117647;AMYH02036180;BC028915;BF835530;CH471126;NM_001130852;NM_012116;XM_005258696;XM_005258697;XR_243917 AAD34341;AAD34342;AAH28915;ABM82169;ABM85419;BAA86298;EAW57292;EAW57293;NP_001124324;NP_036248;Q9ULV8;XP_005258753;XP_005258754 Hs.466907 5024161 RH48807 CBL-3;CBL-SL;RNF57 Cas-Br-M (murine) ecotropic retroviral transforming sequence c;Cas-Br-M (murine) ectropic retroviral transforming sequence c;Cbl proto-oncogene, E3 ubiquitin protein ligase C;E3 ubiquitin-protein ligase CBL-C;OTTHUMP00000198327;OTTHUMP00000198328;RING finger protein 57;SH3-binding protein CBL-3;SH3-binding protein CBL-C;signal transduction protein CBL-C APPROVED protein-coding ENSG00000142273 HGNC:15961 09765 608453 REVIEWED 1321764 CBLL1 Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011] 7 7 7 q22.3 102191387 102209180 + 107383942 107402112 + 107743697 107761667 + 737633;6480464;8554872 12477932 11836526;11944035;12853948;14996930;15009096;15146197;15161933;15342556;16336960;16344560;18057010;19535458;19711372;20379614;20608937;21191016;21283129;21685945;22252131;22715382;22850631;23285092;24250222;24457600;24654937;24722188 79872 B4DDV7;C9J2P9;C9K074;F8WEM5;Q75N03 ABBA01057904;AC002467;AI055864;AK026762;AK293352;AK307992;AMYH02016518;BC027460;BC130529;BC130531;BC144176;BP201841;BP280978;BX348716;CH236947;CH471070;CN274642;CN291556;DB033469;DB174309;NM_001284291;NM_024814;NR_024199;XM_006716132 AAH27460;AAI30530;AAI30532;AAI44177;AAS07390;ADR83027;BAB15544;BAG56868;EAW83416;EAW83417;NP_001271220;NP_079090;Q75N03;XP_006716195 Hs.592271 2114190;2143913 D7S756;STS-N34389 FLJ23109;MGC163401;MGC163403;RNF188 Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1;Casitas B-lineage lymphoma-like;Cbl proto-oncogene, E3 ubiquitin protein ligase-like 1;E-cadherin binding protein E7;E3 ubiquitin-protein ligase Hakai;HAKAI;OTTHUMP00000206719;OTTHUMP00000206720;OTTHUMP00000206722;OTTHUMP00000206724;RING finger protein 188;c-Cbl-like protein 1;casitas B-lineage lymphoma-transforming sequence-like protein 1 APPROVED protein-coding ENSG00000105879 HGNC:21225 07590 606872 VALIDATED 1320589 CBFB core-binding factor, beta subunit The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51571303 51643220 + 67063050 67134961 + 67029147 67101058 + 1599543;6480464;7240710;8699517 8351518 10404215;10536006;10856244;10914550;10958941;11276260;11742995;12217689;12239155;12434156;12477932;12495904;14729951;15138260;15243141;15331439;15386419;15489334;15585652;16169070;16502584;16504290;16767164;17287858;17379770;17431401;17571080;18695000;19156145;19179469;19322201;19453261;19603346;19946888;20195357;20195544;20225274;20306249;20306685;20433876;20591170;20607802;21139048;21150319;22012064;22053931;22190034;22190036;22190037;22193545;22205746;22479405;22498736;22505724;22725134;23098073;23152542;23160462;23175372;23300442;23333304;23430691;23878140;23988114;24002588;24250222;24390320;24390335;24402281;24418540;24422669;24522927;24648201;24816145;7587111;7622058;8889548;8889549;9191054;9264408;9447981;9751710;9751756 865 H3BSC0;J3KRT0;J3KS23;J3KTD8;Q13951 AA020956;ABBA01025426;ABBA01025427;ABBA01025428;AC009084;AC074143;AF294326;AK290462;AK291834;AK311084;AK311724;AMYH02032222;AMYH02032223;AMYH02032224;BC018509;BM679848;BT006862;CH471092;L20298;NG_009281;NM_001755;NM_022845;XM_005256212;XM_006721321 AAA02868;AAG01553;AAH18509;AAP35508;ABM84645;ABM92175;BAF83151;BAF84523;EAW83066;EAW83067;EAW83068;EAW83069;EAW83070;EAW83071;NP_001746;NP_074036;Q13951;XP_005256269;XP_006721384 Hs.460988 1644873;2106971;2148180;5017526 CBFB;CBFB_7757;RH67901;RH78908 PEBP2B CBF-beta;OTTHUMP00000174817;PEA2-beta;PEBP2-beta;SL3-3 enhancer factor 1 beta subunit;SL3-3 enhancer factor 1 subunit beta;SL3/AKV core-binding factor beta subunit;core-binding factor subunit beta;polyomavirus enhancer binding protein 2, beta subunit;polyomavirus enhancer-binding protein 2 beta subunit APPROVED protein-coding ENSG00000067955 HGNC:1539 00418 121360;601626 REVIEWED 1343800 CBLN3 cerebellin 3 precursor Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009] 14 14 14 q12 4760374 4763367 - 24895738 24898731 - 24426532 24429525 - 6480464 10964938;12975309;15340161;17030622;20686565 643866 G3V2Y8;Q6UW01 ABBA01061345;AL132800;AMYH02028880;AY359070;CD368047;NG_034018;NM_001039771 AAQ89429;NP_001034860;Q6UW01 Hs.207603 1777306;2186765 RH11211;WI-18521 PRO1486 OTTHUMP00000245805;cerebellin-3 APPROVED protein-coding ENSG00000139899 HGNC:20146 612978 VALIDATED 1345184 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Mar 2012] 11 11 11 q23.3 116236024 116339059 + 119076986 119178859 + 119206276 119308149 + 1580863;2299174;2317988;6480464;6484113;6907045;7240710;8554872;8699517 16829981;18175071 10025673;10068674;10074432;10078535;10086340;10092522;10204582;10347229;10358153;10372803;10374881;10427990;10428778;10449770;10477741;10514377;10521482;10531381;10540342;10567358;10570266;10570290;10608804;10617633;10620516;10629042;10635327;10648820;10657627;10679202;10684856;10779765;10799548;10826882;10829062;10854852;10907644;10918571;10962563;10966114;10967110;11001060;11024037;11030146;11032556;11042121;11053437;11067845;11071869;11087752;11133830;11149930;11152963;11157475;11239464;11262396;11263968;11278816;11313921;11331248;11353765;11370743;11399323;11406619;11408594;11418612;11443118;11494134;11553620;11687594;11696592;11697890;11713248;11741956;11742985;11777909;11788601;11792427;11823423;11826757;11847211;11850825;11891219;11894095;11894096;11896602;11904433;11944898;11964172;11983899;119942;11994282;11997436;11997497;12024036;12061819;12135478;12147253;12149655;12176909;12177062;12193575;12218189;12226085;12231245;12234920;12244174;12393469;12435267;12475393;12477932;12486104;12496371;12496419;12504111;12522270;12527895;12559036;12574167;12593795;12593796;12604776;12618476;12637493;12649282;12672817;12696071;12727845;12734385;12771190;12802274;12803489;12815057;12839496;12874286;12881521;12935897;12941616;14505571;14530346;14596919;14604282;14627991;14661060;14702039;14725908;14738146;15001553;15004239;15031295;15062086;15090612;15094368;15107835;15117950;15123609;15128873;15135048;15159412;15190072;15208330;15210722;15273720;15282549;15315962;15324660;15337528;15358160;15383614;15456872;15465819;15475003;15536084;15556646;15577829;15592455;15635092;1565471;15657067;15668240;15677445;15707590;15708858;15728256;15735736;15736970;15737992;15782196;15824310;15837792;15872089;15878338;15892963;15951569;15958209;15962011;16094384;16105874;16107303;16135792;16219545;16228008;16246327;16289966;16327786;16356860;16397241;16407834;16429130;16467851;16479008;16503409;16600665;16623714;16636290;16729043;16735510;16740632;16751776;16849543;16893902;16906159;16914641;16923119;16938345;16955467;16964243;16969069;17003487;17063465;17072306;17082185;17094785;17094949;17141222;17182860;17188587;17237826;17242169;17255109;17255943;17306257;17330819;17353186;17372230;17395426;17446348;17475912;17486068;17545148;17548467;17620296;17620338;17635922;17675467;17675501;17679095;17702744;17709377;17804547;17880946;17944804;17971399;17974561;17995934;18029348;18034775;18045238;18048363;18062779;18070883;18193084;18235045;18271526;18273061;18316398;18374639;18505781;18508924;18519587;18539136;18596201;18632619;18654987;18660489;18792408;18835194;18974118;19002168;19074904;19081591;19144635;19155296;19167335;19190244;19201892;19225046;19236749;19258424;19268472;19276253;19341794;19380743;19387008;19401194;19417776;19433454;19450681;19457607;19531213;19531499;19546888;19571318;19578043;19620960;19635790;19689429;19713535;19823681;19836242;19861161;19880507;19892728;19901108;19915061;19932172;19947936;19966856;20008299;20011623;20029031;20038312;20086179;20100865;20124286;20126411;20130058;2013228;20189481;20195608;20237427;2030914;20357823;20379614;20404156;20416077;20439986;20461437;20479273;20525683;20543203;20562913;20595524;20619386;20622007;20671051;20675402;20678218;20694012;20696396;20717917;20877636;20880116;20936779;20940296;21048031;21098288;21118980;21163258;21175263;21203488;21222362;21242968;21346257;21372129;21394196;21422499;21436637;21464131;21494262;21570973;21596750;21645455;21706016;21712076;21740303;21768087;21772844;21830225;21904853;21949687;21967979;21988239;21995445;22072526;22131879;22138511;22139419;22158968;22203672;22246246;22262777;22262855;22266821;22301280;22310290;22315494;22394513;22467879;22493164;22505724;22509030;22558309;22588125;22591401;22591685;22623369;22623428;22706086;22733026;22833562;22834886;22888118;22905207;22929312;22974441;22976291;23010802;23025505;23105109;23118026;23127761;23153581;23158001;23175185;23290524;23306613;23352614;23376399;23418353;23434382;23457600;23533197;23586039;23621189;23684068;23696637;23744067;23774213;23783394;23799367;23823657;23874206;23897813;23948411;24113870;24167568;24255178;24287595;24466333;24583314;24654937;24714105;24797263;24816145;24886428;25036637;5668240;7517397;7537740;7545163;7592693;7603564;7629144;7629518;7642581;7657591;7721825;7782294;7791764;7881408;8063801;8083187;82;8524328;8612729;8621483;8621719;8626404;8626543;8635998;8641358;8649804;8662998;8663231;8683103;8695807;8695851;8702998;8780698;8798643;8810341;8824292;8896416;8900205;8920860;8941725;8943292;8950973;8978305;8995243;8995358;8995445;9045636;9092538;9092574;9108392;9119889;9121472;9129019;9130710;9160881;9162067;9174058;9178769;9178909;9195915;9200440;9223670;9233773;9234717;9242692;9259313;9311917;9344843;9367879;9407100;9408950;9414268;9416834;9434624;9447983;9461587;9489702;9535867;9541596;9590251;9603468;9617486;9622055;9632690;9675877;9712732;9716598;9756944;9820532;9846481;9851874;9857068;9872323;9890943;9890970;9918857;9988730;9988765;9989826 867 P22681 AA806454;ABBA01039674;ABBA01039675;ABBA01039676;AK092300;AL832396;AMYH02025663;AMYH02025664;AMYH02025665;AP002956;BC132733;BC136463;BG722940;BX648139;CH471065;DB457271;NG_016808;NM_005188;X57110;X69207 AAI32734;AAI36464;CAA40393;EAW67476;NP_005179;P22681 Hs.504096 1646793;1686062;1699858;1721987;1742619;1768828;1794950;2111350;2143464;2157499;2218344;5014734;5123718;7185531 CBL;CBL_4518;D11S1941E;G15959;G59879;GDB:198117;PMC86017P1;RH103536;RH47875;RH93709;STS-X57110;WI-14589;WI-8978 C-CBL;CBL2;FRA11B;NSLL;RNF55 Cas-Br-M (murine) ecotropic retroviral transforming sequence;E3 ubiquitin-protein ligase CBL;OTTHUMP00000232087;RING finger protein 55;casitas B-lineage lymphoma proto-oncogene;fragile site, folic acid type, rare, fra(11)(q23.3);oncogene CBL2;proto-oncogene c-Cbl;signal transduction protein CBL APPROVED protein-coding ENSG00000110395 HGNC:1541 01320 165360;613563 REVIEWED 1346675 CBLN4 cerebellin 4 precursor This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012] 20 20 20 q13 51311804 51319320 - 54572413 54580528 - 55997357 56005472 - 6480464 11780052;12477932;12975309;15340161;15489334;16344560;17030622;17207965;17331201;18278437;19212655;21356198;21410790;22191730;22220752;23602568 140689 Q9NTU7 ABBA01052888;AK289640;AL117383;AMYH02037336;AY358527;BC047076;BC050026;BC069402;BC069488;BC069516;CD244520;CH471077;DA137489;DA391781;NM_080617;XM_005260291;XM_006723704 AAH50026;AAH69402;AAH69488;AAH69516;AAQ88891;ADQ32927;BAF82329;EAW75567;NP_542184;Q9NTU7;XP_005260348;XP_006723767 Hs.126141;Hs.741877 2218342 CBLNL1_4519 CBLNL1 OTTHUMP00000031325;cerebellin precursor-like 1;cerebellin-4;cerebellin-like glycoprotein 1 APPROVED protein-coding ENSG00000054803 HGNC:16231 16685 615029 REVIEWED 1320224 CBR3 carbonyl reductase 3 Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008] 21 21 21 q22.2 22706132 22717559 + 37506614 37518860 + 36134965 36146562 + 1580863;2316291;6480464;6907045 19088887 10728668;10830953;11592776;12477932;15075319;15489334;15537833;16169070;18029348;18457324;18493841;18551042;18676680;19016765;19027726;19170196;19590938;19615732;19625176;19671875;19692168;19841672;20494980;20734064;20806931;21145461;21256830;21853274;21890473;22001310;22124095;22360420;22425771;22504420;22527884;23182048;23314748;7705364;8125298;9503011;9740676 874 O75828;Q53F60;V9HW40 AB003151;AB004850;AB004854;AB041012;AB124847;ABBA01057384;AJ000096;AK223429;AMYH02037775;AP000689;AP001725;BC002812;CH471079;CR541709;EF462915;FJ224313;NM_001236 AAH02812;ABO43035;ACI46005;ADZ15887;BAA33500;BAA34207;BAA89425;BAA95547;BAD74062;BAD97149;BAE45939;CAA03921;CAG46510;EAX09747;NP_001227;O75828 Hs.154510 2154678 SHGC-87616 HEL-S-25;SDR21C2;hCBR3 NADPH-dependent carbonyl reductase 3;OTTHUMP00000109012;carbonyl reductase (NADPH) 3;carbonyl reductase [NADPH] 3;epididymis secretory protein Li 25;short chain dehydrogenase/reductase family 21C, member 2 APPROVED protein-coding ENSG00000159231 HGNC:1549 07222 603608 REVIEWED 5687877 CBR3-AS1 CBR3 antisense RNA 1 21 21 37504065 37528606 - 36131767 36156308 - 12477932;22264502;24337686;9740676 100506428 AB004851;ABBA01057384;AL542398;AMYH02037775;AP000689;BC037580;BC038671;BC047014;BI836686;NR_038892;NR_038893;NR_038894 Hs.651214 1663161;2124073;2154678;5014019;5014740;5015861;5016478;5020948;5022578;5022651;5037552;5093108;7185938 A009G10;D10S16;D11S2921;D17S610;D1S1423;D5S2354;D8S2279;G32524;G35510;GDB:434012;SHGC-87614;SHGC-87616 PlncRNA-1 APPROVED ncrna ENSG00000236830 HGNC:43664 VALIDATED 737546 CBR1 carbonyl reductase 1 The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013] 21 21 21 q22.13 22641173 22644350 + 37442285 37445462 + 36069924 36073177 + 1580863;1300048;2302233;6480464;6907045;8552774 12432932;18452227 10091578;10830953;11306092;11771743;12123751;12477932;12577067;12836057;1453004;1540623;15489334;16169070;17344335;17353931;17569794;17697149;18449627;18493841;18551042;18676680;18826943;19016765;19022938;19027726;19056867;19135240;19170196;19204081;1921984;19442656;19625176;19692168;19841672;20029029;20471030;20562859;20972266;21139048;21145461;21256830;21320693;2182121;21853274;21890473;21906983;22124095;22145905;22178446;22234250;22360420;22542806;22562609;23133646;23247010;23295225;23314748;23576398;24250222;24583282;24654784;3083821;3141401;3311025;7005231;7705364;8421682;8432528;9740676 873 A8MTM1;E9PQ63;P16152 AB003151;AB124848;ABBA01057382;AK294142;AK308691;AK311219;AK314879;AL548852;AMYH02037772;AP000688;AP001724;BC002511;BC015640;BT019843;CH471079;CR541708;EF141836;J04056;M62420;N51716;NM_001286789;NM_001757 AAA17881;AAA52070;AAH02511;AAH15640;AAV38646;ABK97430;ABM83279;ABM86485;BAA33498;BAA89424;BAA95508;BAE45940;BAG37394;BAG57468;CAG46509;EAX09752;EAX09753;EAX09754;EAX09755;NP_001273718;NP_001748;P16152 Hs.88778 1683084;1741803;1797350;2148329;2164298 CBR1_1984;GDB:185176;RH17586;RH91556;SHGC-52102 CBR;SDR21C1;hCBR1 15-hydroxyprostaglandin dehydrogenase;NADPH-dependent carbonyl reductase 1;OTTHUMP00000109013;carbonyl reductase (NADPH) 1;carbonyl reductase [NADPH] 1;prostaglandin 9-ketoreductase;prostaglandin-E(2) 9-reductase;short chain dehydrogenase/reductase family 21C, member 1 APPROVED protein-coding ENSG00000159228 HGNC:1548 00267 114830 REVIEWED 737316 CBS cystathionine-beta-synthase The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] 21 21 21 q22.3 29625968 29649139 - 44473301 44496472 - 43053191 43076362 - 1600622;1600624;1600626;1600627;1359024;1580863;1300048;6480464;6907045;7240710;7242427;8699517;8554872 12649066;12855221;16636197;20162368;7506602;9359866 10215408;10338090;10408774;10434301;10462600;10791559;10830953;11013450;11074524;11149614;11173483;11204591;11292330;11310576;11341749;11359213;11359462;11434706;11457468;11483494;11528503;11575217;11672761;11748855;11758232;11872884;12007221;12015064;12020105;12082592;12124992;12154064;12173932;12180146;12186157;12228232;12269827;12379655;12393509;12413583;12427542;12439143;12477932;12529702;12642343;12725044;12815602;12889841;1301198;14670973;14977639;15009965;15082224;15228193;15354395;15365998;15489334;15503105;15520012;15544339;15554031;15719048;15748616;15755387;15772012;15889417;15922487;15972722;15975077;16007597;16013960;16115349;16189514;16196087;16205833;16259797;16274669;16328059;16363792;16375773;16422253;16470595;16479318;16505479;16541333;16601865;16709328;16780588;16791140;16792904;16941496;16953589;17035141;17087506;17119116;17160942;17311259;17311260;17319270;17327360;17352495;17436311;17540596;17548676;17553479;17601350;17621169;17686644;17726616;17891500;17956124;17993766;18029348;18060852;18203168;18278872;18398434;18427977;18447718;18454451;18614746;18620331;18622257;18635682;18636124;18676680;18708589;18776696;18781797;18785313;18792976;18799873;18818748;18830263;18839533;18936436;18950795;18977241;18977990;18988749;18992148;19010420;19019082;19019335;19019492;19048631;19064578;19074437;19112534;19161160;19166826;19170196;19238444;19267073;19370759;19424622;19429038;19447967;19493349;19527514;19531479;19559392;19593657;19625176;19657138;19657388;19683694;19692168;19722721;19729796;19737740;19906435;19913121;19948975;20031554;20031578;20056620;20066033;20082058;20140262;20160465;20217437;20237949;20301334;20301697;20308073;20346360;20379614;20453000;20458436;20490928;20506325;20544798;20559280;20565774;20601281;20615890;20628086;20634891;20638879;20670920;20707729;20717043;20718043;20737570;20883119;20890573;20939734;20948192;21045269;21055808;21062078;21104445;21139048;21273695;21319273;21417705;21517828;21520339;21564312;21626167;21886822;21890473;21900206;21917271;21957013;21988832;22002135;22069143;22118674;22236648;22253703;22310774;22333527;22353391;22470444;22484094;22512572;22612060;22665368;22738154;22863883;22891245;22977242;22985361;23002992;23117410;23124209;23143240;23152928;23251661;23430030;23718855;23720494;23790103;23824729;23836652;23954866;23981774;24211323;24236104;24316487;24416422;24515102;24654937;2894761;404147;681363;7564249;7598711;7611293;7635485;7762555;7849717;7903580;7929220;7967489;7981678;8022826;8353501;840498;8528202;8755636;8803779;8990018;9156316;9266356;9361025;9383285;9466992;9590298;9790750;9889017 875 C9JMA6;H7C1W6;H7C2H4;H7C2W0;P35520;Q9NTF0 ABBA01004516;ABBA01004517;AF042836;AK294608;AK301063;AK313691;AL137314;AL531222;AMYH02037890;AMYH02037891;AP001630;BC000440;BC007257;BC010242;BC011381;BC012319;BT007154;CH471079;CQ779398;DC300040;DQ191754;HB891684;HB906392;HB908636;HB919838;HB928571;HB944969;HC949093;HC963801;HC966045;HC977247;HC985980;HD002379;L00972;L14577;L19501;NG_008938;NM_000071;NM_001178008;NM_001178009;X82166;X88562;XM_006724057 AAA19874;AAA98524;AAC64683;AAC64684;AAH00440;AAH07257;AAH10242;AAH11381;AAH12319;AAP35818;ABA28318;ABM81955;ABM85134;BAG36440;BAH11822;BAH13401;CAA57656;CAA61252;CAB70691;CAG14912;CBF70474;CBF85738;CBF88264;CBF94917;CBF99203;CBG07230;CBU94756;CBV01862;CBV02957;CBV08437;CBV12723;CBV20752;EAX09507;EAX09508;EAX09509;EAX09510;EAX09511;EAX09512;EAX09513;EAX09514;EAX09515;NP_000062;NP_001171479;NP_001171480;P35520;XP_006724120 Hs.533013 1730213;1741799;1742131;2147103;2170314;7186603 D21S271E;GDB:185174;GDB:192314;RH78946;SGC35805 HIP4 OTTHUMP00000109415;OTTHUMP00000109416;OTTHUMP00000109417;OTTHUMP00000109418;beta-thionase;cystathionine beta synthase;cystathionine beta-synthase;methylcysteine synthase;serine sulfhydrase APPROVED protein-coding ENSG00000160200 HGNC:1550 01994 236200;613381 REVIEWED 1602997 CBR4 carbonyl reductase 4 ENCODES a protein that exhibits NAD(P)H dehydrogenase (quinone) activity; NADPH binding; NADPH dehydrogenase (quinone) activity; INVOLVED IN daunorubicin metabolic process; doxorubicin metabolic process; protein homotetramerization; ASSOCIATED WITH Neoplastic Syndromes, Hereditary (inferred); FOUND IN mitochondrial matrix; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 5-aza-2'-deoxycytidine 4 4 4 q32.3 167240084 167262804 - 169815774 169931468 - 168894623 169010317 - 6480464;8554872 12477932;14702039;16344560;17207965;19000905;19027726;19322201;19571038;20877624;21890473;24250222 84869 D6RAV8;D6RGF2;D6RJF4;H0Y962;Q8N4T8 ABBA01070334;ABBA01070335;AC021151;AC080188;AC115538;AK027337;AK291756;AL049442;AL833393;AMYH02010478;AV704400;BC021973;BC033650;BG119539;BQ230058;CH471056;DA217727;HB874579;HC931988;NM_032783;W70279;XM_005263315;XM_005263316;XM_006714391;XM_006714392 AAH21973;AAH33650;ADQ31575;BAB55045;BAF84445;CAH10582;CBF61666;CBU86558;EAX04797;EAX04798;NP_116172;Q8N4T8;XP_005263372;XP_005263373;XP_006714454;XP_006714455 Hs.659311 1701298;1714531;2142789;2145811;5094862 CBR4;D4S998;RH104278;RH119778;SHGC4-1617 FLJ14431;SDR45C1 3-oxoacyl-[acyl-carrier-protein] reductase;OTTHUMP00000219586;OTTHUMP00000219599;OTTHUMP00000219638;carbonic reductase 4;carbonyl reductase family member 4;quinone reductase CBR4;short chain dehydrogenase/reductase family 45C, member 1 protein-coding ENSG00000145439 HGNC:25891 07859 VALIDATED 733798 CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase ENCODES a protein that exhibits calcium ion binding (inferred); ligase activity (inferred); phosphotyrosine binding (inferred); INVOLVED IN cell surface receptor signaling pathway (inferred); immune response (inferred); intracellular signal transduction (inferred); PARTICIPATES IN chronic myeloid leukemia pathway; endocytosis pathway; epidermal growth factor/neuregulin signaling pathway; ASSOCIATED WITH Arthritis, Experimental (ortholog); Insulin Resistance (ortholog); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 4-hydroxynon-2-enal; aflatoxin B1 3 3 3 q13.11 103775519 103986437 - 105374306 105589354 - 105655462 105869043 - 625457;1580863;2314039;2314040;2314037;2314038;2306289;2314041;6480464;6907045;8554872 12118252;14961073;15629882;16984225;17209142;17601987;18201552 10022120;10074432;10086340;10635327;11053437;11087752;11375397;11406619;11526404;11826757;11857085;12093870;12177062;12218189;12477932;12577067;12697763;12771181;12874286;12880961;12907674;12935897;14604964;14661060;14702039;15231748;15273720;15315962;15489334;15922296;16002993;16007098;16189514;16228008;16459459;16503409;16525057;16702950;16729043;16734387;16868939;17020880;17081983;17235393;17255943;17330819;17475912;17878343;18029348;18271526;18316398;18539136;18596201;19190244;19285159;19380743;19506219;19531213;19531499;19546888;19815501;19834503;19880507;19915061;20038312;20237496;20395198;20400514;20453840;20467438;20639876;20936779;21037273;21248249;21346257;21453975;21558139;21645455;21706016;21768087;21807564;21900206;22158902;22194214;22447040;22505724;22884570;23039885;23145173;23280105;23586056;23684068;24351824;24631539;24797263;25099615;7784085;8889548;9399639;9614102 868 B3KSS7;B5MC15;C9JRB3;C9JU85;E9PHA9;Q13191;Q68CY2 AA251219;AB075490;ABBA01061727;ABBA01061728;AC016138;AC112485;AC126185;AK094184;AK123147;AK130668;AK292792;AK302533;AK302892;AK316276;AMYH02007366;AMYH02007367;AMYH02007368;BC032851;BC065915;BQ188745;BX537484;BX649066;CH471052;CR749655;DQ349203;DQ349204;NM_170662;R78694;U26710;U26711;U26712;XM_005247852;XM_005247853;XM_006713796;XM_006713797;XR_427384;XR_427385 AAB09291;AAB09292;AAB09293;AAH32851;ABC86700;ABC86701;ABM85378;ABW03717;BAE45748;BAF85481;BAG52839;BAG53874;BAG63805;BAG64066;BAH14647;CAH18449;CAH56175;EAW79751;EAW79752;EAW79753;EAW79754;NP_733762;Q13191;XP_005247909;XP_005247910;XP_006713859;XP_006713860 Hs.430589 1646100;1649466;1730379;1747791;2107913;2129900;2145362;2147674;2169339;2178288;7187048 1232;A003P06;CBLB_8242;D3S1333E;D3S3959;D3S4235;G66779;SHGC-35478;SHGC-77171;SHGC-77174 Cbl-b;DKFZp686J10223;DKFZp779A0729;DKFZp779F1443;FLJ36865;FLJ41152;Nbla00127;RNF56 Cas-Br-M (murine) ecotropic retroviral transforming sequence b;Cas-Br-M (murine) ectropic retroviral transforming sequence b;Cbl proto-oncogene, E3 ubiquitin protein ligase B;E3 ubiquitin-protein ligase CBL-B;OTTHUMP00000198145;OTTHUMP00000198146;OTTHUMP00000198147;RING finger protein 56;SH3-binding protein CBL-B;casitas B-lineage lymphoma proto-oncogene b;signal transduction protein CBL-B APPROVED protein-coding ENSG00000114423 HGNC:1542 05136 604491 VALIDATED 1320203 CBLN2 cerebellin 2 precursor INVOLVED IN positive regulation of synapse assembly (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 18 18 18 q22.3 67055763 67063568 - 70203915 70211723 - 72536680 72552636 - 6480464 12477932;12975309;14702039;15489334;17030622;19010793;22117778;22569225;23502781;7877445 147381 J3KST0;J3QS23;Q8IUK8 ABBA01056307;AC011208;AK125422;AK291364;AMYH02034975;AY359074;BC035789;BC110843;BX409761;CH471117;CS208023;HB867208;NM_182511;XM_006722394 AAH35789;AAQ89433;BAF84053;CAJ44937;CBF57590;EAW66527;EAW66528;EAW66529;NP_872317;Q8IUK8;XP_006722457 Hs.569851 1646599;2181476 D18S1269;RH15985 OTTHUMP00000163726;cerebellin-2 protein-coding ENSG00000141668 HGNC:1544 15970 600433 VALIDATED 1352030 CBWD2 COBW domain containing 2 ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH copper(2+) sulfate; levonorgestrel; 2,4-dinitrotoluene (ortholog) 2 2 q13 114195268 114253781 + 113437691 113496204 + 6480464 12421752;12477932;15233989;16169070;16344560;17353931;19615732;21145461;21890473;21906983;21963094;22505724;24778252;8125298 150472 C9J3G2;F8WEG4;F8WEU0;F8WFD0;Q8IUF1 ABBA01018420;AC016745;AC245097;AF452722;AK124867;AK225251;AK290072;AK303653;AL078621;AMYH02004598;AMYH02004599;AY343910;BC120991;BC120992;DA296279;HH771664;NM_172003;XM_005263600;XM_005263602;XM_005263603;XM_005263604;XM_005263605;XM_005263606;XR_244814;XR_249193;XR_427073 AAI20992;AAI20993;AAN64907;AAQ76868;BAC85973;BAF82761;BAH14006;CBX86534;NP_742000;Q8IUF1;XP_005263657;XP_005263659;XP_005263660;XP_005263661;XP_005263662;XP_005263663 Hs.531330 5016775;5113384;5121664;5124325;5124454;5124593 G19715;RH64865;RH65287;RH66853;RH68216;RH68370 COBW domain-containing protein 2;OTTHUMP00000162049;cobalamin synthase W domain-containing protein 2;cobalamin synthetase W domain-containing protein 2 protein-coding ENSG00000136682 HGNC:17907 16687 611079 VALIDATED 1343748 CBWD3 COBW domain containing 3 ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 9 9 q13 70856839 70914932 + 68241866 68300016 + 6480464 12421752;12477932;15233989;16341674;21890473;21906983;21963094;22505724 445571 F2Z3P0;Q5JTY0;Q5JTY1;Q5JTY2;Q5JTY5;Q5RIB2;S4R432 AK297912;AL353608;AMYH02020917;AMYH02020918;AY344633;BM786305;BU622154;BX509475;FQ976557;HH772028;NM_001291821;NM_201453;XM_005251991;XM_005277637;XM_005277639;XM_005277640;XM_005277641;XM_006717116;XR_254402;XR_428530 AAI72342;AAQ76870;BAG60231;CBX86716;NP_001278750;NP_958861;Q5JTY5;XP_005252048;XP_005277694;XP_005277696;XP_005277697;XP_005277698;XP_006717179 Hs.645337 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 FLJ60409;bA561O23.1 COBW domain-containing protein 3;OTTHUMP00000021409;OTTHUMP00000021410;cobalamin synthase W domain-containing protein 3;cobalamin synthetase W domain-containing protein 3 protein-coding ENSG00000196873 HGNC:18519 611080 VALIDATED 1625817 CBWD7 COBW domain containing 7 ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 9 p12 42671863 42714961 + 6480464 14702039;21890473;21906983;21963094;9847074 728013 A6NM15;H0Y5V3 AC129778;XM_001717050;XM_005272526 A6NM15;XP_001717102;XP_005272583 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 FLJ40320 OTTHUMP00000070163;OTTHUMP00000070164;OTTHUMP00000070165;putative COBW domain-containing protein 7;putative cobalamin synthase W domain-containing protein 7 protein-coding HGNC:31977 1348830 CBWD1 COBW domain containing 1 ENCODES a protein that exhibits ATP binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cadmium dichloride; 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 9 9 p24.3 121038 179077 - 121038 179076 - 6480464;8554872 10867487;10931946;11489251;12421752;12477932;15164053;15233989;15489334;17207965;17353931;21890473;21906983;21963094;22505724;22797925 55871 C9JGY1;F2Z2T4;Q9BRT8 AF212253;AF257330;AK290648;AK297292;AK315855;AL356244;AL449043;AMYH02019022;AY295766;AY320414;AY343911;BC005996;BC009573;BC013432;BC037212;BC132759;BU621970;HH772046;HH772086;HH772092;NM_001145355;NM_001145356;NM_018491;XM_005251513;XM_005251514;XM_005251515;XM_005251516;XM_005251517;XR_428424;XR_428425 AAF68990;AAH05996;AAH09573;AAH13432;AAI32760;AAK14935;AAP73813;AAQ76869;ADQ32099;ADR83148;ADZ15344;BAF83337;BAF98746;BAH12539;CBX86725;CBX86745;CBX86748;NP_001138827;NP_001138828;NP_060961;Q9BRT8;XP_005251570;XP_005251571;XP_005251572;XP_005251573;XP_005251574 Hs.531330;Hs.567539;Hs.645337 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 COBP COBW domain-containing protein 1;COBW-like protein;NPC-A-6 COBW domain-containing protein 1;OTTHUMP00000020950;OTTHUMP00000020951;OTTHUMP00000020953;cobalamin synthase W domain-containing protein 1;cobalamin synthetase W domain-containing protein 1 protein-coding ENSG00000172785 HGNC:17134 16686 611078 VALIDATED 1602602 CBWD6 COBW domain containing 6 ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 9 9 q21.11 69204538 69262593 - 41131309 41189364 - 6480464 12477932;21890473;21906983;21963094;22505724 644019 Q4V339;Q4V340;Q9HAZ6 AF293368;AK293173;AMYH02020843;AMYH02020844;AMYH02020845;BC069006;BX255923;CR627025;HH772008;NM_001085457;XM_006716848;XM_006716849;XM_006716850 AAG10070;BAG56717;CBX86706;NP_001078926;Q4V339;XP_006716911;XP_006716912;XP_006716913 Hs.597638;Hs.645337 5016775;5022578;5095470;5113384;5121664;5124450;5124454 D1S1423;G19715;RH119736;RH12706;RH65287;RH66853;RH68216 DKFZp686L07117;FLJ60409 COBW domain-containing protein 6;OTTHUMP00000069725;OTTHUMP00000069835;cobalamin synthase W domain-containing protein 6;cobalamin synthetase W domain-containing protein 6 protein-coding ENSG00000204790;ENSG00000215126 HGNC:31978 VALIDATED 1601812 CBWD5 COBW domain containing 5 ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 9 9 q21.11 70432004 70490171 - 65675834 65734041 + 6480464 10409428;10867487;12421752;12477932;14702039;16169070;16344560;21890473;21906983;21963094;22505724;8889548;8889549 220869 E7EUZ7;F2Z3P0;H0Y857;O60748;Q5JTY2;Q5RIA9;Q5RIB0;Q5RIB3;Q5RIB5;Q6NVZ8;Q9H2J8 AA039734;AF065414;AF265442;AK097639;AK292585;AMYH02020912;AW450308;BC043420;BC067803;BC082271;BC141856;BG912967;BG943433;BM711778;BU683395;BX284632;CD244615;DA288994;DB463072;NM_001024916;NM_001286835;NM_001286836;NR_104600;XM_005272748;XM_005272749;XM_005272750;XM_005272751;XM_005272754;XM_005272755;XM_006716914;XM_006716915;XR_428503;XR_428504 AAC17121;AAG44700;AAH43420;AAH67803;AAI41857;BAF85274;NP_001020087;NP_001273764;NP_001273765;Q5RIA9;XP_005272805;XP_005272806;XP_005272807;XP_005272808;XP_005272811;XP_005272812;XP_006716977;XP_006716978 Hs.355950;Hs.531330;Hs.635227;Hs.645337;Hs.645504 5016775;5113384;5121664;5124450;5124454 G19715;RH12706;RH65287;RH66853;RH68216 DC36;FLJ34856;FLJ40320;FLJ77192;MGC167043;MGC44166 COBW domain-containing protein 5;COBW-like placental protein;OTTHUMP00000015371;OTTHUMP00000015372;OTTHUMP00000215652;OTTHUMP00000215655;cobalamin synthase W domain-containing protein 5;cobalamin synthetase W domain-containing protein 5;dopamine responsive protein protein-coding ENSG00000147996 HGNC:24584 14134 VALIDATED 4107204 CBX1P2 chromobox homolog 1 pseudogene 2 X X X p22 21237119 21239259 - 17116503 17118680 - 17098380 17100557 - 100147811 ABBA01071511;AL732371;AMYH02038936;NG_007618;NG_012557 pseudo HGNC:38656 INFERRED 1346367 CBWD4P COBW domain containing 4 pseudogene 9 9 q13 70181086 70214885 - 65287480 65321279 - 12421752 445572;653510 AL512605;NG_027949 pseudo HGNC:18520 INFERRED 4107194 CBX1P4 chromobox homolog 1 pseudogene 4 X X X p22.13 21421293 21423494 + 17300474 17302675 + 17282351 17284552 + 100130461 ABBA01071528;ABBA01071529;AL845433;AMYH02038937;NG_007646 pseudo HGNC:38658 INFERRED 4107271 CBX1P1 chromobox homolog 1 pseudogene 1 X X X q11.1 62864393 62866606 - 62517551 62519764 - 63297674 63299885 - 645251 ABBA01066772;AC234780;AL158203;AL365179;AMYH02039590;NG_007614 1689402;1787338 RH93265;SHGC-154811 pseudo HGNC:38655 INFERRED 1348208 CBX1P5 chromobox homolog 1 pseudogene 5 3 3 3 q26.1 164927419 164932273 + 166528617 166530531 + 166810829 166812743 + 100133259 ABBA01058738;AC128686;AMYH02008081;NG_007645;XM_210557 CBX9 APPROVED pseudo HGNC:21006 INFERRED 1321782 CBX1 chromobox homolog 1 This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 42600238 42633237 - 46147414 46178883 - 48070052 48101521 - 6480464;9586744 18436254 10202156;10330177;10460410;10549285;10562550;10747027;10882726;11101528;11242053;11242054;11336697;11790298;11793364;11882902;11959914;12054505;12111331;12414990;12477932;12560554;12560555;12711675;12867029;14585993;14651845;15100215;15120635;15136563;15145825;15200951;15489334;15635413;15899859;15947784;15960974;16127177;16169070;16344560;16415788;16537907;16547356;16615912;16622419;17081983;17314413;17403666;17575412;17962312;18239689;18438399;18590578;18599480;19486527;19615732;19661379;19706462;19759913;20195357;20195544;20231385;20308360;20360068;20498703;20562864;20682794;20923784;20935630;21047797;21139048;21281799;21693764;21888893;21890473;21906983;21988832;22178446;22234250;22318730;22505724;22606318;22615490;22617335;22715096;22815475;22949513;23000965;23077635;23287531;23337132;23536649;23585859;23707759;24244333;24250222;24457600;24561199;24654937;24840329;8287692;9169582;9454751;9636146 10951 B5MD17;C9JWS9;J3KS05;K7ELA4;P83916;Q6IBN6 ABBA01041153;ABBA01041154;ABBA01041155;AC004477;AC006468;AF106801;AK312615;AMYH02033533;AMYH02033534;AMYH02033535;AMYH02033536;AMYH02033537;BC002609;BC021302;CB053834;CH471109;CR456766;DA020204;DA689514;DA781730;DB026977;NM_001127228;NM_006807;U35451 AAB81548;AAD21972;AAH02609;AAH21302;ABZ92300;BAG35502;CAG33047;EAW94758;EAW94759;EAW94760;EAW94761;NP_001120700;NP_006798;P83916 Hs.77254 2109113 CBX1_9202 CBX;HP1-BETA;HP1Hs-beta;HP1Hsbeta;M31;MOD1;p25beta HP1 beta;HP1 beta homolog;OTTHUMP00000197313;OTTHUMP00000197314;OTTHUMP00000197315;OTTHUMP00000197316;chromobox homolog 1 (HP1 beta homolog Drosophila );chromobox protein homolog 1;heterochromatin protein 1 homolog beta;heterochromatin protein 1-beta;heterochromatin protein p25 beta;modifier 1 protein APPROVED protein-coding ENSG00000108468 HGNC:1551 05149 604511 REVIEWED 5490471 CBX3P2 chromobox homolog 3 pseudogene 2 18 18 18 p11.32 2527977 2528486 - 2652169 2655394 - 2652170 2655395 - 12477932 645158 Q8WVE2 ABBA01049833;AMYH02034214;AP005061;BC018088;BX328992;NG_031972;NR_033754 AAH18088 Hs.712861;Hs.741607 pseudo ENSG00000266405 HGNC:42874 VALIDATED 1352044 CBX3 chromobox homolog 3 At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.[provided by RefSeq, Mar 2011] 7 7 7 p15.2 26230084 26241954 + 26240831 26253227 + 26201211 26213607 + 1580863;6480464;9586744;8554872 18436254 10330177;10460410;10562550;10664448;11101528;11124534;11242053;11336697;11793364;11959914;12004135;12054505;12414990;12477932;12485163;12560555;12690205;14578449;15009096;15120635;15136563;15145825;15200951;15306854;15322135;15489334;15502821;15635413;15882967;16061184;16083285;16127177;16159877;16713569;16945326;16954381;16964243;17065558;17081983;17245432;17314413;17381543;17403666;17468742;17540172;17575412;17962312;18029348;18032920;18160415;18172013;18239689;18618731;18781797;19144645;19322201;19471022;19486527;19615732;19661379;19690169;19738201;19759913;20011120;20176155;20231385;20360068;20562864;20675861;20695923;20923784;20936779;21047797;21139048;21145461;21220418;21252314;21358630;21549307;21596310;21784059;21865325;21875947;21888893;21890473;21906983;21907836;21963094;22178446;22234250;22318730;22325352;22505724;22514736;22586326;22615490;22684280;22863883;22870217;22939629;22990118;23000965;23077635;23166591;23287531;23313480;23522301;23829974;24163370;24244333;24457600;24583282;24654937;24816145;8663349;9169472;9454751;9636146;9636147;9864353 11335 A4D177;B8ZZ43;C9JMM0;Q13185;S4R2Y4 AB030905;ABBA01056745;AC010677;AF136630;AL542267;AMYH02015390;AMYH02015391;BC000954;BC014380;BX647444;BX648807;CD514780;CH236948;CH471073;CV575477;DB565723;NM_007276;NM_016587;U26312;XM_005249611;XM_005249612 AAB48101;AAF62370;AAH00954;AAH14380;ACE86685;ACE87369;BAA83340;EAL24235;EAW93842;EAW93843;EAW93844;EAW93845;EAW93846;NP_009207;NP_057671;Q13185;XP_005249668;XP_005249669 Hs.381189 1696692;1735656;1857592;2170890;2184022;5124411 D7S2103E;HSC11F052;RH24974;SHGC-57830;SHGC-83036;STS-H78370 HECH;HP1-GAMMA;HP1Hs-gamma HP1 gamma homolog;OTTHUMP00000122519;OTTHUMP00000122520;OTTHUMP00000202463;chromobox homolog 3 (HP1 gamma homolog, Drosophila);chromobox protein homolog 3;heterochromatin protein 1 homolog gamma;heterochromatin protein HP1 gamma;heterochromatin-like protein 1;modifier 2 protein APPROVED protein-coding ENSG00000122565 HGNC:1553 05130 604477 REVIEWED 5490499 CBX3P5 chromobox homolog 3 pseudogene 5 12 12 12 95350991 95351509 - 95680096 95680614 - 95286320 95286838 - 100421943 ABBA01053339;AC084879;AMYH02026971;NG_024039;NG_028987 pseudo HGNC:42877 INFERRED 5490501 CBX3P3 chromobox homolog 3 pseudogene 3 5 5 5 108058926 108059472 - 112113340 112113886 - 112777643 112778189 - 100421861 ABBA01069053;AC136500;AMYH02011977;NG_024619 pseudo HGNC:42875 INFERRED 5490490 CBX3P7 chromobox homolog 3 pseudogene 7 11 11 11 85604526 85605028 + 89026912 89027414 - 89293744 89294246 - 100421975 ABBA01011523;AMYH02025268;AP000720;NG_024399 1847356;2119613;2190379;7188805 D11S3987;D11S870-D11S1326;RH69108 pseudo HGNC:42879 INFERRED 5490502 CBX3P8 chromobox homolog 3 pseudogene 8 11 11 11 p11.12 49578243 49578767 + 49427742 49428266 + 49406190 49406714 + 100286965 ABBA01060667;AC135977;AMYH02024764;NG_021817 1847356;2119613;2218128 D11S3987;RH69108;TYR_3880 pseudo HGNC:42880 INFERRED 6481556 CBX3P4 chromobox homolog 3 pseudogene 4 12 12 2896458 2896748 - 2787292 2787582 - 100873792 ABBA01048801;AC005841;AMYH02025885;NG_032536 pseudo HGNC:42876 INFERRED 4107291 CBX1P3 chromobox homolog 1 pseudogene 3 1 1 1 q32.1 177058891 177062522 + 203923526 203927157 + 203954398 203958029 + 100128723 ABBA01027462;AC096645;AMYH02002523;NG_007647 pseudo HGNC:38657 INFERRED 5490505 CBX3P6 chromobox homolog 3 pseudogene 6 2 2 2 q24.1 149410573 149411099 - 155797053 155797579 - 154940541 154941067 - 642721 ABBA01004821;AC093112;AMYH02005019;NG_021530 pseudo HGNC:42878 INFERRED 5490504 CBX3P9 chromobox homolog 3 pseudogene 9 6 6 6 q22.1 117517247 117517795 - 116774180 116774728 - 116453017 116453565 - 644101 ABBA01026046;AMYH02014353;NG_022324;Z84488 pseudo HGNC:42881 INFERRED 4107152 CBX5P1 chromobox homolog 5 pseudogene 1 3 3 3 p11.1 88898633 88899355 - 88144432 88145154 - 88095282 88096004 - 100151661 ABBA01004633;AC119733;AMYH02007220;NG_007668 pseudo HGNC:38659 INFERRED 1342823 CBX2 chromobox homolog 2 This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010] 17 17 17 q25.3 74346955 74386998 + 77751977 77761449 + 79778178 79787650 + 1580863;6480464;7240710;8554872;9479058;9479060;8699517;9586732;9586734;9586730 23219007;23473600;24885002;25065329;9641679 10369680;12167701;12477932;1352241;15146197;16189514;1898775;19060904;19107218;19361780;19636380;21047797;21282530;21383063;22009739;22325352;22419124;22632162;23667531;24250222;24457600;2477932;2903050;3081265;7782071 84733 Q14781 ABBA01013830;AC105337;AL157459;AMYH02034090;BC004252;BC119759;BC119760;BX110913;CH471099;CN367085;CN367087;CN367098;CV815254;DB452048;NG_016986;NM_005189;NM_032647;X77824;X77825;XM_006722140 AAH04252;AAI19760;AAI19761;AAI56119;AAI57075;ABZ92071;CAA54839;EAW89568;EAW89569;NP_005180;NP_116036;Q14781;XP_006722203 Hs.368410 1668021;1683385;1749321;1771246;2110557 MGC10561__7656;RH47739;RH66799;RH93970;SHGC-111083 CDCA6;M33;MGC10561;SRXY5 M33 polycomb-like;Pc class homolog;cell division cycle associated 6;chromobox homolog 2 (Pc class homolog, Drosophila);chromobox protein homolog 2;modifier 3 APPROVED protein-coding ENSG00000173894 HGNC:1552 14397 602770;613080 REVIEWED 2291773 CBX3P1 chromobox homolog 3 pseudogene 1 11 11 11 p14.1 27973976 27976174 + 27827864 27830105 + 27806317 27808558 + 10763413 159770 ABBA01060966;AC103796;AF063304;AMYH02024508;NG_001315 pseudo HGNC:33950 INFERRED 1348844 CBX4 chromobox homolog 4 ENCODES a protein that exhibits enzyme binding; SUMO binding; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-templated; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Carcinoma, Hepatocellular; Neoplasm Metastasis; FOUND IN nucleus; PcG protein complex; PRC1 complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); atrazine 17 17 17 q25.3 74433438 74439695 - 77806955 77813222 - 79833156 79839414 - 1580863;6480464;9586739;9479058;9479060;9586738;8554872 23473600;23943028;24838576;25065329 11583618;12101246;12167701;12477932;12679040;12700765;12829790;14638676;15175327;15231748;15489334;15563468;15592428;15710417;16009940;16061479;16169070;17018294;17081983;17087506;17332741;17428788;17439403;18029348;18178578;18408014;18453536;18567530;18781797;19336002;19454010;19471022;19636380;19933700;20351170;20361981;21145359;21252943;21256122;21282530;21288202;21549310;21693764;21885019;21906983;22028491;22078878;22325352;22467880;22797925;22825850;22889411;22897849;23000965;23667531;24163370;24434214;24457600;24654937;24912682;9199346;9315667;9367786;9858531;9858600 8535 F8WCW6;I3L4F1;O00257 ABBA01013826;ABBA01013827;ABBA01013828;AC100791;AF013956;AI796748;AMYH02034091;AMYH02034092;AMYH02034093;AY390430;BC014967;BG029608;BQ225831;CH471099;EU439707;NM_003655;U94344 AAB62734;AAB80718;AAH14967;AAQ97596;ACA49234;EAW89572;EAW89573;NP_003646;O00257 Hs.405046 1658988 RH78479 NBP16;PC2;hPC2 E3 SUMO-protein ligase CBX4;NS5ATP1-binding protein 16;OTTHUMP00000197308;OTTHUMP00000197309;Pc class 2 homolog;chromobox homolog 4 (Pc class homolog, Drosophila);chromobox protein homolog 4;polycomb 2 homolog APPROVED protein-coding ENSG00000141582 HGNC:1554 04357 603079 VALIDATED 1316437 CBX6 chromobox homolog 6 ENCODES a protein that exhibits single-stranded RNA binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Glioblastoma; FOUND IN nucleus; PcG protein complex; INTERACTS WITH atrazine; cobalt dichloride; cyclosporin A 22 22 22 q13.1 23066901 23074916 - 39257468 39268258 - 38861463 38872292 - 1580863;6480464;9479058;9479060;9587354 23473600;24260522;25065329 10591208;12477932;14702039;15203218;15489334;19322201;20211142;20972438;21047797;21139048;21282530;21890473;21906983;22325352;23000965;23503679;24163127;24457600 23466 B0QXZ6;O95503 ABBA01055539;AK094829;AK293035;AL008583;AMYH02038368;BC012111;BC064900;CD625491;CH471095;HI574266;NM_014292;XM_005261412 AAH12111;AAH64900;ABM84593;ABM86713;BAF85724;BAG52939;CBX47622;EAW60276;NP_055107;O95503;XP_005261469 Hs.592201 1784504;2187319 SHGC-144773;STS-R45141 OTTHUMP00000197412;OTTHUMP00000197413;chromobox protein homolog 6 protein-coding ENSG00000183741 HGNC:1556 13005 VALIDATED 1353483 CBX7 chromobox homolog 7 ENCODES a protein that exhibits chromatin binding (inferred); methylated histone binding (inferred); single-stranded RNA binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Adenocarcinoma of lung; Adenocarcinoma, Clear Cell; Carcinoma, Hepatocellular; FOUND IN cytoplasm; nuclear chromatin; nucleus; INTERACTS WITH all-trans-retinoic acid; arsenous acid; benzo[a]pyrene 22 22 22 q13.1 23328820 23350581 - 39526777 39548661 - 39130772 39152656 - 1580863;6480464;9479058;9479060;9587354;9587359;9587361;9587355;9587357;9586729;9587356;9587360;9587358 18701502;18984978;19706751;20185297;20723236;22041561;22214847;23473600;24260522;24375438;25065329 10369680;10591208;12477932;14647293;15489334;15897876;16537902;17374722;18686603;19636380;20541999;20542683;21047797;21060834;21282530;21988832;22226354;23955597;24250222;24457600 23492 B0QYP2;B0QYP3;O95931 ABBA01055551;AL031846;AMYH02038373;AMYH02038374;BC051773;BC128418;CH471095;DQ064603;NM_175709;XM_005261413;XM_006724174;XM_006724175;XM_006724176;XM_006724177;XM_006724178 AAH51773;AAY68391;ABZ92314;EAW60297;EAW60298;EAW60299;EAW60300;EAW60301;NP_783640;O95931;XP_005261470;XP_006724237;XP_006724238;XP_006724239;XP_006724240;XP_006724241 Hs.356416 2133587;2165405 A003A08;HSC0XA102 OTTHUMP00000197317;OTTHUMP00000197318;OTTHUMP00000197319;chromobox protein homolog 7 protein-coding ENSG00000100307 HGNC:1557 12234 608457 VALIDATED 1315340 CBX5 chromobox homolog 5 This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 54276743 54325894 - 54624730 54673915 - 54230946 54280131 - 1580863;6480464;9586744;9586743;9479074;8554872 18436254;22900142;23642229 10330177;10460410;10549285;10562550;10699177;10882726;10938122;11112778;11242053;11242054;11313457;11336697;11484059;11516652;11793364;11799066;11942629;11959914;12054505;12154074;12242305;12411497;12414990;12477932;12485163;12560555;12565857;12692243;12697822;12711603;12867029;14585993;14702039;14730304;15120635;15145825;15196694;15200951;15231747;15306854;15342556;15454574;15485920;15489334;15502821;15635413;15723802;15849318;15882967;15899859;16127177;16177824;16189514;16487625;16622419;16648629;16687578;16751776;16762841;16945326;17081983;17101789;17213182;17314413;17381543;17403666;17470536;17540172;17698499;17884155;17962312;18029348;18264112;18648073;18676401;18809684;19352502;19471022;19479850;19486527;19498464;19566924;19567367;19617346;19661379;19666599;19783980;19880879;20011120;20049717;20080105;20110566;20154359;20231385;20421743;20498703;20562864;20695923;20923784;21029866;21047797;21139048;21199919;21209461;21346195;21364188;21374739;21383955;21693764;21704408;21875947;21888893;21890473;21900206;21906983;21988832;22139419;22205726;22234250;22318730;22496453;22505724;22615490;22922742;22939629;23000965;23028349;23077635;23142018;23142645;23281010;23287531;23392382;23602568;23645696;23803414;24018422;24250222;24415761;24561205;24583282;24816145;24821728;24840329;8505380;8663349;8864858;9169472;9454751;9636146;9636147;9864353 23468 F8VNY3;P45973;V9HWG0 ABBA01008366;ABBA01008367;ABBA01008368;ABBA01008369;AC078778;AF147443;AK023520;AK055641;AK056315;AK095108;AK313506;AMYH02026532;AMYH02026533;AMYH02026534;BC006821;BC030149;BC047432;BP236173;BP336150;CH471054;CR457418;DT217255;EU794599;L07515;NM_001127321;NM_001127322;NM_012117;S62077;U26311 AAA72327;AAB26994;AAC50553;AAH06821;ABZ92153;ABZ92313;ACJ13653;BAG36286;CAG33699;EAW96758;EAW96759;EAW96760;NP_001120793;NP_001120794;NP_036249;P45973 Hs.349283 1669118;1670078;1677746;1684200;1686458;1697452;1777604;2140199;2175784;2177575;5014051;5015879;5022200;5022450;5022651;5024761;5037552;5109281;7186698 D10S275;D11S2921;D12S110E;D12S1966;D1S1425;D8S2278;D8S2279;GDB:314949;L18426;RH102227;RH36905;RH64861;RH68193;RH93620;SGC34021;STS-Z40708;WI-12071;WI-15869 HEL25;HP1;HP1A HP1 alpha;HP1 alpha homolog;HP1-ALPHA;HP1Hs alpha;OTTHUMP00000241878;OTTHUMP00000241879;OTTHUMP00000241880;OTTHUMP00000241881;antigen p25;chromobox homolog 5 (HP1 alpha homolog, Drosophila);chromobox protein homolog 5;epididymis luminal protein 25;heterochromatin protein 1 homolog alpha;heterochromatin protein 1-alpha APPROVED protein-coding ENSG00000094916 HGNC:1555 05131 604478 REVIEWED 1605449 CBY3 chibby homolog 3 (Drosophila) 5 5 5 q35.3 174729963 174732379 - 179105559 179107975 - 179678558 179681378 - 6480464 15372022;24250222 646019 A6NI87 ABBA01010031;AC136604;AMYH02012885;BX110582;NM_001164444;XM_006714913 A6NI87;NP_001157916;XP_006714976 Hs.535767 1656257 STS-H08168 OTTHUMP00000223233;protein chibby homolog 3 protein-coding ENSG00000204659 HGNC:33278 VALIDATED 1345009 CCA1 cataract, congenital, cerulean type, 1 ASSOCIATED WITH Cerulean cataract (inferred) 7240710 7704021 878 HGNC:1559 115660 1343969 CBY1 chibby homolog 1 (Drosophila) Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12 22859330 22876528 + 39052658 39069859 + 38656653 38673850 + 1580863;6480464 10591208;11230166;11337467;12477932;12529303;12712206;15194699;15203218;15245581;15461802;15489334;16570344;16713569;17403895;17905836;18573912;18663750;18818748;19019335;19435523;19527514;19940019;20096688;20140262;21182262;22094256;22911743;23645032;23707389;23838289;24250222 25776 B0QY53;B0QY54;Q9Y3M2 AB015347;AB111855;ABBA01055529;ABBA01055530;AF331041;AK307265;AK311928;AL021707;AL050345;AL136686;AMYH02038361;AU099418;BC008839;BC016139;BK005534;CD626926;CD702742;CH471095;CR456410;NM_001002880;NM_015373 AAH16139;AAL56062;ADR82759;BAA88119;BAC78839;BAG34869;CAB43547;CAB66621;CAG30296;DAA05582;EAW60254;EAW60255;EAW60256;NP_001002880;NP_056188;Q9Y3M2 Hs.334911;Hs.744261 1670147;2109645 PGEA1_9407;RH41824 C22orf2;CBY;HS508I15A;PGEA1;PIGEA-14;PIGEA14;arb1 ARPP-binding protein;OTTHUMP00000198875;OTTHUMP00000198876;OTTHUMP00000198878;PKD2 interactor, Golgi and endoplasmic reticulum-associated 1;PKD2 interactor, golgi and endoplasmic reticulum associated 1;chibby CTNNB1-mediated transcription inhibitor;coiled-coil protein PIGEA-14;cytosolic leucine-rich protein;polycystin-2 interactor, Golgi- and endoplasmic reticulum-associated protein, 14 kDa;protein chibby homolog 1 APPROVED protein-coding ENSG00000100211 HGNC:1307 09676 607757 REVIEWED 2289739 CC2D2A coiled-coil and C2 domain containing 2A This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 4 4 4 p15.32 15935348 16067126 + 15471489 15603594 + 15469865 15601971 + 6480464;7240710;8554872;8699517 10718198;12477932;14702039;16344560;18387594;18513680;18950740;19068953;19574260;19777577;20301500;20301743;20585324;21068128;21906983;22023432;22241855;23251661 57545 D6R9V3;H0Y941;Q9P2K1 AA441801;AB037766;ABBA01032570;ABBA01032571;AC007016;AC116651;AI376394;AK023876;AK025543;AK096047;AK309178;AMYH02008798;BC053865;BC061921;BC070395;BC103710;BX647334;CF528984;CH471069;DA860072;DB043556;EU450799;KF510860;N35522;NG_013035;NM_001080522;NM_001164720;NM_020785;XM_005248177;XM_005248179;XM_006713970 AAI03711;ACC96081;BAA92583;BAB14710;BAG10039;EAW92734;NP_001073991;NP_001158192;NP_065836;Q9P2K1;XP_005248234;XP_005248236;XP_006714033 Hs.590928 1667263;1690916;1698580;1708220;2155400;2160963;2182599;5022322;5037552 D11S2560;D4S310;D8S2279;RH102842;RH92883;SHGC-24584;SHGC-67237;SHGC-79369;WI-22664 JBTS9;KIAA1345;MKS6 OTTHUMP00000217872;OTTHUMP00000217873;OTTHUMP00000217875;OTTHUMP00000217876;OTTHUMP00000217877;OTTHUMP00000217879;OTTHUMP00000217881;coiled-coil and C2 domain-containing protein 2A APPROVED protein-coding ENSG00000048342 HGNC:29253 216360;612013;612284;612285 REVIEWED 1345688 CCAL1 chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) ASSOCIATED WITH Chondrocalcinosis 1 (inferred) 7240710 7887424 882 HGNC:1561 600668 1606546 CC2D1A coiled-coil and C2 domain containing 1A This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009] 19 19 19 p13.12 13910701 13935438 + 14016956 14041693 + 13906143 13930880 + 6480464;7240710;8699517;8554872 12477932;12761501;14569116;14702039;14756806;15489334;15534042;15592455;16033914;16051665;16344560;16730941;16964243;17084358;17394259;17535813;17714190;18029348;18662999;18806297;19056867;19946888;19948489;20171170;20205790;20392296;20467438;20529849;21189260;21274377;21900206;22023432;22258254;22328058;22406677;22833682;22944692;24250222;24816145 54862 K7EJY5;K7EMP1;Q6P1N0 AB097002;ABBA01029706;AC020916;AF536205;AK000248;AK023399;AK026371;AK123155;AK315068;AMYH02035592;AMYH02035593;AMYH02035594;BC006556;BC048345;BC064981;BC113968;BP395853;CH471106;DB065701;NG_013089;NM_017721;XM_005259972;XM_005259973;XM_005259974;XM_005259975 AAH48345;AAH64981;AAI13969;AAN04488;BAA91029;BAB14561;BAB15464;BAC77355;EAW84380;NP_060191;Q6P1N0;XP_005260029;XP_005260030;XP_005260031;XP_005260032 Hs.269592 1339087;1701390;5014467;5016808;5021872;5022651 D11S2921;D19S840;GDB:313557;RH104325;RH80706;sY3084 FLJ20241;FLJ41160;FREUD-1;Freud-1/Aki1;MRT3 Akt kinase-interacting protein 1;FRE under dual repression-binding protein 1;coiled-coil and C2 domain-containing protein 1A;five prime repressor element under dual repression-binding protein 1;five repressor element under dual repression-binding protein 1;mental retardation, nonsyndromic, autosomal recessive, 3;putative NF-kappa-B-activating protein 023N;putative NFkB activating protein APPROVED protein-coding ENSG00000132024 HGNC:30237 08616 608443;610055 REVIEWED 1603884 CC2D1B coiled-coil and C2 domain containing 1B ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; quercetin 1 1 1 p32.3 51102961 51118558 - 52816265 52831877 - 52350593 52366205 - 6480464 11347906;12477932;14702039;15146197;17084357;17084358;19423080;22779921;22863883;24250222;24960163;8889548 200014 H0Y517;H7C1U3;Q5T0F9 AB058739;ABBA01074775;AK093605;AK095487;AK130874;AL513218;AMYH02001018;BC007912;BC014080;BC016880;BC039308;BM975102;BQ073406;BX337298;CH471059;CN279193;DB458797;NM_032449;XM_005270590;XM_005270591;XM_005270593;XM_006710422;XM_006710423 AAH07912;AAH16880;AAH39308;BAB47465;BAC85450;EAX06785;EAX06786;EAX06787;EAX06788;EAX06789;NP_115825;Q5T0F9;XP_005270647;XP_005270648;XP_005270650;XP_006710485;XP_006710486 Hs.591451 1667119;1739879;1854654;2139176;2156012;5022578 A005E48;D1S1423;D1S2354;D1S2512;D1S3534;SHGC-74828 KIAA1836;RP11-155O18.2 FRE under dual repression-binding protein 2;OTTHUMP00000009793;OTTHUMP00000009794;OTTHUMP00000009795;OTTHUMP00000009796;coiled-coil and C2 domain-containing protein 1B;five prime repressor element under dual repression-binding protein 2;freud-2 protein-coding ENSG00000154222 HGNC:29386 12393 VALIDATED 1351003 CBX8 chromobox homolog 8 ENCODES a protein that exhibits methylated histone binding; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Esophageal Squamous Cell Carcinoma; Glioblastoma; FOUND IN nuclear chromatin; nucleus; PcG protein complex; INTERACTS WITH arsenite(3-); copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q25.3 74393725 74396464 - 77768176 77770915 - 79794377 79797116 - 1580863;6480464;9479058;9479060;9587354;9587436 23473600;24260522;25065329;25197352 10825164;11313972;11439343;12167701;12477932;14702039;15009096;15489334;15856011;16169070;17332741;17936708;18029348;19471022;19636380;20431927;20601937;21047797;21282530;22094252;22325352;22990118;23474493;23891621;24457600;24816145 57332 C9J6K3;C9JM54;Q9HC52 ABBA01013830;AC100791;AF174482;AF266479;AK074560;AMYH02034090;BC008937;BC009376;BC019289;CH471099;NM_020649 AAF76328;AAG09180;AAH08937;AAH09376;AAH19289;ABZ92360;BAC11061;EAW89571;NP_065700;Q9HC52 Hs.387258 1338093;7186736 D20S196;D20S887 HPC3;PC3;RC1 OTTHUMP00000197310;OTTHUMP00000197311;OTTHUMP00000197312;Pc class 3 homolog;chromobox homolog 8 (Pc class homolog, Drosophila);chromobox protein homolog 8;polycomb 3;rectachrome 1 APPROVED protein-coding HGNC:15962 13006 VALIDATED 7247298 CCAT2 colon cancer associated transcript 2 (non-protein coding) 8 q24.21 127400399 127402150 + 17401363;17618284;18264096;18264097;18372905;21242260;21743057;23266556;23796952;24077681;24504682 101805488 ABBA01037942;AC018714;AMYH02018756;GQ911591;GQ911592;NR_109834 Hs.745578 LINC00873;NCCP1 ncrna HGNC:47044 VALIDATED 1349229 CCAT cataract, congenital 880 HGNC:1563 1321297 CC2D2B coiled-coil and C2 domain containing 2B 10 10 10 q24.1 91501058 91533652 + 97721331 97793496 + 95938103 96033739 + 12477932;14702039;15164054;15489334;16344560;16385451 387707 B7ZBR7;B7ZBX6;Q6DHV5;Q6ZW91 ABBA01021832;AK022203;AK302377;AL356155;AL513355;AMYH02023584;BC075861;CH471066;DB026257;NM_001001732;NM_001159747;XM_006717833;XM_006717834 AAH75861;BAG63696;EAW49985;NP_001001732;NP_001153219;Q6DHV5;XP_006717896;XP_006717897 Hs.538374;Hs.652240 2161533 D10S1449 C10orf130;FLJ12141;bA248J23.4 OTTHUMP00000020164;OTTHUMP00000205754 protein-coding ENSG00000188649 HGNC:31666 16578 VALIDATED 1605357 CCAR2 cell cycle and apoptosis regulator 2 ENCODES a protein that exhibits enzyme binding; enzyme inhibitor activity; poly(A) RNA binding; INVOLVED IN mitochondrial fragmentation involved in apoptotic process; negative regulation of catalytic activity; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; DBIRD complex; mitochondrial matrix; INTERACTS WITH bis(2-chloroethyl) sulfide; menadione; valproic acid 8 8 8 p22 21423997 21439838 + 22462145 22477984 + 22604632 22620471 + 6480464;8554872 11076863;11230166;11256614;11853319;12370419;12477932;12938929;14676191;14702039;14743216;15302935;15345747;15489334;15489336;15824730;16344560;16381901;17081983;17266347;17314511;17332742;17353931;17473282;17643375;17660530;18235501;18235502;18418069;19126541;19131338;19218236;19471022;19509139;19657230;19738201;20020773;20070850;20071779;20074560;20160719;20360068;20479123;20562859;21030595;21081666;21139048;21145461;21252943;21890473;21906983;21963094;21987572;22127596;22145905;22190034;22365833;22446626;22505724;22553202;22586326;22623428;22735644;22751105;22863883;22939629;23000965;23349634;23352644;23588592;23667531;23752268;23841676;23874603;23892437;24018803;24019980;24126058;24129246;24147044;24231951;24332808;24415752;24583282;24657165;24816145;25027693 57805 E5RFJ3;E5RGU7;E5RHH8;E5RHJ4;G3V119;H0YB24;H0YC58;H0YC69;Q8N163 AB075847;ABBA01005525;ABBA01005526;AC037459;AF293335;AK022661;AK095712;AK096547;AK314535;AL137523;AL834162;AL834351;AL834352;AMYH02017594;BC003172;BC018269;BC065495;BI561261;BX390251;BX640952;CH471080;DA110888;DA721640;HD117867;HH735892;NM_021174;NR_033902 AAG02472;AAH18269;AAH65495;BAB14163;BAB85553;BAG37126;BAG53111;CAB70788;CAD38866;CAD39016;CAD39017;CAE45976;CAL37584;CAL38698;CBW53721;CBX74356;EAW63658;EAW63659;EAW63660;EAW63661;EAW63662;NP_066997;Q8N163 Hs.744848 1688110;1698432;1699706;1700144;1701274;2118441;2152812;2191355 MARC_17851-17852:1025010471:1;RH102761;RH103458;RH103685;RH104266;RH48987;RH79699;STS-H96791 DBC-1;DBC.1;DBC1;KIAA1967;NET35;p30 DBC;p30DBC DBIRD complex subunit KIAA1967;OTTHUMP00000225106;OTTHUMP00000225109;cell cycle and apoptosis regulator protein 2;cell division cycle and apoptosis regulator protein 2;deleted in breast cancer 1;deleted in breast cancer gene 1 protein APPROVED protein-coding ENSG00000158941 HGNC:23360 09159 607359 VALIDATED 1345566 CCAR1 cell division cycle and apoptosis regulator 1 ENCODES a protein that exhibits ligand-dependent nuclear receptor transcription coactivator activity; poly(A) RNA binding; INVOLVED IN apoptotic process (inferred); gene expression (inferred); mRNA splicing, via spliceosome (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); nucleoplasm (inferred); INTERACTS WITH curcumin; doxorubicin; emetine 10 10 10 q21.3 63756894 63827219 + 70480956 70552134 + 68721144 68792377 + 737633;1580863;6480464;8554872 12477932 12226669;12816952;14702039;14743216;15069192;15164054;15302935;15489334;16341674;16344560;16385451;16543231;16712791;17081983;17332742;17513614;18029348;18157088;18321953;18382127;18655026;18722177;18854154;19073175;19460752;19471022;19520846;20360068;20562859;21139048;21693764;21890473;21903591;22266316;22365833;22586326;22905258;22990118;23184937;23246001;23975424;24816145;25027693 55749 F5H1H2;F5H1L3;F5H2E6;F5H3E1;F5H3I8;F5H7M9;F5H808;H0YFJ7;H0YFT7;Q8IX12 ABBA01019587;ABBA01019588;ABBA01019589;ABBA01019590;AF465616;AK000741;AK001701;AK023438;AK122871;AK292649;AK298004;AK299307;AK307550;AK307671;AK307704;AL391539;AL513534;AMYH02023262;AMYH02023263;AY249140;BC015475;BC026036;BC058846;BC089420;BC108682;BC130626;BC132725;BC144118;BM786237;BM905703;BU181074;BU617955;BX647943;CB136079;CH471083;DA511293;DB636717;HI574014;NM_001282959;NM_001282960;NM_018237;NR_104262 AAH15475;AAH26036;AAH89420;AAI08683;AAI30627;AAI32726;AAO17319;AAP82002;BAA91354;BAA91847;BAB14574;BAF85338;BAG60310;BAG61320;CBX47496;EAW54300;EAW54301;EAW54302;NP_001269888;NP_001269889;NP_060707;Q8IX12 Hs.49853 1688300;1769696 D10S1418;RH98330 MGC44628;RP11-437A18.1 OTTHUMP00000019709;OTTHUMP00000236721;OTTHUMP00000236724;OTTHUMP00000236725;cell cycle and apoptosis regulatory protein 1;cell division cycle and apoptosis regulator protein 1;death inducer with SAP domain protein-coding ENSG00000060339 HGNC:24236 10811 612569 VALIDATED 7241106 CCAT1 colon cancer associated transcript 1 (non-protein coding) 8 8 q24.21 128219629 128231333 - 127207382 127219268 - 14702039;21547902;23143645;23416875;23594791;24594601 100507056 ABBA01037941;AC020688;AC027531;AK125310;AMYH02018752;HM358356;HY180930;HY370674;JX003870;NR_108049 Hs.343864 2134211 SHGC-34702 CARLo-5 ncrna HGNC:45128 VALIDATED 1604249 CCDC101 coiled-coil domain containing 101 CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010] 16 16 16 p11.2 27603201 27638545 - 28565249 28603111 + 28553928 28591790 + 6480464;9587455;9479148;9479074;8554872 21441570;23642229;24035451 12477932;14702039;15489334;15932940;16189514;17334388;18838386;19615732;19915574;20360068;20508642;21139048;21685874;21746879;22939629;23044487;23894581;24816145;8889549 112869 H3BN84;H3BPL5;Q96ES7 AA132314;AA132818;ABBA01043647;AC020765;AK057008;AMYH02031793;AMYH02031794;BC011981;CH471279;NM_138414 AAH11981;BAB71340;EAW52272;NP_612423;Q96ES7 Hs.655476 1676500;1678517;2116432;2191613 MARC_27514-27515:1034369541:3;RH70266;RH80061;SHGC-60826 FLJ32446;SGF29;STAF36 OTTHUMP00000162566;SAGA-associated factor 29 homolog;coiled-coil domain-containing protein 101 APPROVED protein-coding ENSG00000176476 HGNC:25156 13996 613374 VALIDATED 1349047 CCBE1 collagen and calcium binding EGF domains 1 This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010] 18 18 18 q21.32 53815992 54082692 - 57098171 57364860 - 59430939 59697838 - 6480464;7240710;8554872;8699517 11853319;12477932;12975309;14702039;18466450;18519826;19287381;19911200;19935664;19935792;20379614;21778431;21988832;22239599;23857890;24086631;24552833 147372 K7EQ81;Q6UXH8 AB075863;ABBA01056169;AC010776;AC016229;AC090213;AF087966;AK055243;AMYH02034830;AMYH02034831;AMYH02034832;AMYH02034833;AMYH02034834;AY358347;BC046645;BF434122;BF515087;BX640826;CH471096;CX782134;EY892390;HC883734;NG_016990;NM_133459;XM_005266648;XM_005266649;XM_006722393 AAH46645;AAQ88713;BAB85569;CAE45902;CBM42919;EAW63100;EAW63101;NP_597716;Q6UXH8;XP_005266705;XP_005266706;XP_006722456 Hs.34333 1700528;1707442;1718315;1730331;1738467;1761379;1774429;1783734;2140304;2146051;5014051;5015861;5016478;5016781;5021872;5022651;5037552;7185938 D10S16;D11S2921;D17S1644E;D18S1003;D8S2278;D8S2279;GDB:434012;RH103885;RH122929;RH16234;SHGC-145395;SHGC-155286;SHGC-34476;SHGC-67307;SHGC-84515;STS-H68552;sY3084 FLJ30681;HKLLS1;MGC50861 collagen and calcium-binding EGF domain-containing protein 1;full of fluid protein homolog APPROVED protein-coding ENSG00000183287 HGNC:29426 08703 235510;612753 REVIEWED 1344849 CCDC102B coiled-coil domain containing 102B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (+)-catechin; arsenous acid; diarsenic trioxide 18 18 18 q22.1 63229092 63570133 + 66382466 66756517 + 68715209 69089280 + 6480464;8554872 12477932;14702039;15489334;16344560;1707030;20379614;24124411;24250222;24722188;8125298 79839 A1A4H1;C9JV39;J3KRG3;J3KRT2;J3QL62;J3QLG6;Q68D86 ABBA01056275;ABBA01056276;ABBA01056277;AC011087;AC022035;AC040896;AC096708;AK027247;AK057282;AK091108;AK225597;AK308114;AL833863;AMYH02034919;AMYH02034920;AMYH02034921;AMYH02034922;AMYH02034923;BC056269;BC126448;BC126450;BQ003970;CH471117;CK823962;CR749520;DB020599;DC380577;DC382329;NM_001093729;NM_024781;XM_005266764;XM_005266765;XM_005266768;XM_006722542;XM_006722543;XM_006722544;XM_006722545;XM_006722546;XR_430083;XR_430084;XR_430085 AAH56269;AAI26449;AAI26451;BAB15706;CAD38721;CAH18334;EAW66511;EAW66512;NP_001087198;NP_079057;Q68D86;XP_005266821;XP_005266822;XP_005266825;XP_006722605;XP_006722606;XP_006722607;XP_006722608;XP_006722609 Hs.280781 1337649;1664777;1668298;1676948;1708388;1708518;1709936;1722647 D18S1313;D18S466;G60407;RH80679;SHGC-82233;SHGC-82876;SHGC-85034;STS-AA029428 ACY1L;AN;C18orf14;DKFZp434K1426;DKFZp686I08254;FLJ23594;HsT1731;MGC161726;MGC161728 OTTHUMP00000163692;aminoacylase 1-like;coiled-coil domain-containing protein 102B protein-coding ENSG00000150636 HGNC:26295 08038 VALIDATED 1606260 CCBL2 cysteine conjugate-beta lyase 2 This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid. Kynurenic acid is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Jun 2009] 1 1 1 p22.2 87647258 87704434 - 89401456 89458643 - 88935773 88992960 - 6480464;6907045;8554872 10441733;11181995;12477932;14702039;16169070;16376499;19165527;20379614;20877624;21139048;21145461;21492941;21890473;21906983;22001757;24250222;24778252;24816145;8889548 56267 B4DW13;Q6YP21 ABBA01045589;ABBA01045590;ABBA01045591;AF091090;AI478599;AK057176;AK301326;AK315917;AL445991;AL833593;AMYH02001432;AMYH02001433;AY028624;BC000819;BM728982;CH471097;CR450282;CR627392;DC424120;NM_001008661;NM_001008662 AAC72959;AAH00819;AAK26163;BAG51875;BAG62875;BAH14288;CAG29278;CAH10487;EAW73154;EAW73157;EAW73158;NP_001008661;NP_001008662;Q6YP21 Hs.481898 1690105;2122473;2163921;2185571;2186878;5016596 A004S46;GDB:631802;RH93455;SHGC-35041;SHGC-75110;SHGC-75112 DKFZp547N1117;DKFZp667D0223;KAT3;KATIII;MGC9398;RBM1;RBMXL1;RP11-82K18.3;RP4-531M19.2 OTTHUMP00000012357;OTTHUMP00000012359;cysteine-S-conjugate beta-lyase 2;kynurenine aminotransferase III;kynurenine--glyoxylate transaminase;kynurenine--oxoglutarate transaminase 3;kynurenine--oxoglutarate transaminase III;kynurenine-oxoglutarate transaminase 3 APPROVED protein-coding ENSG00000137944 HGNC:33238 13752 610656 REVIEWED 1602038 CCDC103 coiled-coil domain containing 103 This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012] 17 17 17 q21.31 39687658 39691132 + 42977080 42983541 + 44899712 44903679 + 6480464;8699517;7240710;8554872 12477932;14702039;15489334;16344560;17207965;20301301;22581229;23872636 388389 F8W6J8;J3KSE5;Q8IW40 ABBA01028341;AC015936;AK091530;AK289760;AMYH02033503;BC041060;BQ448043;CH471178;DA185416;DA749894;DB024698;DB085134;DB451789;NG_032674;NG_032792;NM_001258395;NM_001258396;NM_001258397;NM_001258398;NM_001258399;NM_213607 AAH41060;ADQ32094;BAF82449;EAW51572;NP_001245324;NP_001245325;NP_001245326;NP_001245327;NP_001245328;NP_998772;Q8IW40 Hs.743398 1853861;2148774;2167075 RH78023;SHGC-24053;WI-13537 CILD17;FLJ13094;FLJ34211;PR46b;SMH OTTHUMP00000205386;OTTHUMP00000205387;OTTHUMP00000205388;coiled-coil domain-containing protein 103 APPROVED protein-coding ENSG00000214447 HGNC:32700 14200 614677;614679 REVIEWED 1605307 CCDC102A coiled-coil domain containing 102A INTERACTS WITH 2-methylcholine; atrazine; cytarabine 16 16 16 q21 42046911 42071294 - 57546090 57570477 - 57512178 57536565 - 6480464 12477932;15489334;23137000 92922 Q96A19 ABBA01025273;ABBA01025274;ABBA01025275;AC004382;AMYH02032109;BC004307;BC008285;BC009941;CA449463;CH471092;NM_033212 AAH04307;AAH08285;AAH09941;ABM83575;ABM86814;EAW82935;NP_149989;Q96A19 Hs.644611 2191171 MARC_15717-15718:1013527516:1 MGC10992;MGC13119 OTTHUMP00000164677;coiled-coil domain-containing protein 102A protein-coding ENSG00000135736 HGNC:28097 14408 VALIDATED 1602986 CCDC105 coiled-coil domain containing 105 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 6-propyl-2-thiouracil (ortholog); methimazole (ortholog); potassium dichromate (ortholog) 19 19 19 p13.12 15017220 15029771 + 15121539 15134083 + 15010727 15023271 + 6480464;8554872 12477932;14702039;19056867;19773279 126402 Q8IYK2 ABBA01051092;ABBA01051093;AC004659;AC104528;AK097684;AL833847;AMYH02035639;BC035678;CH471106;NM_173482 AAH35678;BAC05142;CAD38706;EAW84458;NP_775753;Q8IYK2 Hs.375985 FLJ40365 coiled-coil domain-containing protein 105 protein-coding ENSG00000160994 HGNC:26866 08280 VALIDATED 1602886 CCDC109B coiled-coil domain containing 109B ENCODES a protein that exhibits calcium channel inhibitor activity (ortholog); INVOLVED IN mitochondrial calcium ion homeostasis (ortholog); mitochondrial calcium ion transport (ortholog); FOUND IN integral component of mitochondrial inner membrane; uniplex complex; calcium channel complex (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 4 4 4 q25 107775242 107902535 + 110481355 110608872 + 109560199 109688634 + 6480464 12477932;14702039;15146197;15489334;16169070;16341674;17207965;19773279;20332099;21139048;23455636;24231807 55013 C9JTJ6;Q9NWR8 ABBA01063777;ABBA01063778;ABBA01063779;ABBA01063780;ABBA01063781;ABBA01063782;ABBA01063783;AC004067;AC105314;AK000654;AK095936;AK291098;AK311030;AL832311;AMYH02009898;BC002633;BM830891;CH471057;CN427680;CR457234;KC876908;KF457805;NM_017918;XM_006714246 AAH02633;ADQ31823;BAA91309;BAF83787;CAG33515;EAX06242;EAX06243;NP_060388;Q9NWR8;XP_006714309 Hs.234149 1644863;1650647;1662290;1666789;1698608;1767711;1772166;2134913;2144014;2155190;2155192;2161978;2185398 G16732;G19585;RH102859;SHGC-19822;SHGC-19823;SHGC-19830;SHGC-19832;SHGC-19837;SHGC-19839;SHGC-23008;SHGC-50796;SHGC-67915;SHGC4-1507 EMRE;FLJ20647;MCUb OTTHUMP00000162741;coiled-coil domain-containing protein 109B;essential MCU regulator;mitochondrial calcium uniporter regulatory subunit MCUb protein-coding ENSG00000005059 HGNC:26076 07939 VALIDATED 1606123 CCDC108 coiled-coil domain containing 108 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; fonofos; levonorgestrel 2 2 2 q35 213637289 213675960 - 219867568 219906273 - 219002846 219041551 - 6480464 12477932;16344560;21822266 255101 B4DYZ8;B4DZ05;C9JIV0;C9JLP9;C9JVA0;H7C0B4;Q49A14;Q6ZU64 AA503417;ABBA01023853;AC097468;AK123235;AK125957;AK127189;AK302678;AK302688;AL048936;AL833882;AMYH02005811;AMYH02005812;BC031585;BC039688;BC047637;BC130281;BG723301;BX649039;DB070903;HY027454;NM_001278295;NM_001278296;NM_152389;NM_194302;XM_006712396;XM_006712397 AAH31585;AAH47637;AAI30282;AAX88919;ADZ16075;BAC85566;BAC86362;BAC86878;BAG63910;BAG63917;CAD38738;NP_001265224;NP_001265225;NP_689602;NP_919278;Q6ZU64;XP_006712459;XP_006712460 Hs.147762 DKFZp434O0527;MGC35338 OTTHUMP00000163969;OTTHUMP00000163970;OTTHUMP00000206325;coiled-coil domain-containing protein 108 protein-coding ENSG00000181378 HGNC:25325 13201;17534 614270 VALIDATED 1605844 CCDC107 coiled-coil domain containing 107 This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 9 9 9 p13.3 35591860 35594733 + 35658279 35661500 + 35658290 35661503 + 6480464;8554872 12477932;15164053;15489334;16713569;21832049;21988832;8889548 203260 Q8WV48;X6R9Y9 ABBA01064988;AK075523;AK307223;AL357874;AMYH02019463;BC018758;BC051285;BE903559;BM973388;CH471071;CS051361;DC410699;DQ884403;NG_017041;NG_033120;NM_001195200;NM_001195201;NM_001195217;NM_174923;XM_005251403 AAH18758;AAH51285;ABI63370;ABM82866;ABM86052;BAC11669;CAI72175;EAW58364;EAW58365;EAW58366;EAW58367;EAW58368;EAW58369;NP_001182129;NP_001182130;NP_001182146;NP_777583;Q8WV48;XP_005251460 Hs.745107 FLJ97171;MGC31967;PSEC0222;RP11-331F9.6 OTTHUMP00000021334;OTTHUMP00000021335;OTTHUMP00000021336;OTTHUMP00000021337;coiled-coil domain-containing protein 107 protein-coding ENSG00000159884 HGNC:28465 14545 REVIEWED 1315794 CCBL1 cysteine conjugate-beta lyase, cytoplasmic This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34.11 102246153 102296248 - 131595392 131644354 - 128832942 128882075 - 1580863;2306289;6480464;6907045;8554872 16984225 10369878;12477932;14702039;15016471;15164053;15364907;15489334;16344560;16376499;16463021;16828464;17207965;18029348;18342615;19338303;2139845;21832049;22093698;22939629;7814371;7883047;8736988;8889548;8968194 883 A8K563;B7Z4W5;Q16773;Q5T276;Q5T277;Q5T278 ABBA01043904;ABBA01043905;ABBA01043906;ABBA01043907;AK094505;AK291178;AK297995;AK314427;AL441992;AL672142;AMYH02021728;AU123740;AW073815;BC013069;BC021262;BC022468;BC033685;BI755163;BM692880;BU622726;CH471090;DA381449;DC413592;EL733697;NM_001122671;NM_001122672;NM_001287390;NM_004059;NR_109829;X82224;XM_006717311;Y17447;Y17448 AAH21262;AAH33685;BAF83867;BAG37043;BAG52878;BAH12701;CAA57702;CAB44342;CAB44343;EAW87840;EAW87841;NP_001116143;NP_001116144;NP_001274319;NP_004050;Q16773;XP_006717374 Hs.495250 1679211;1767381;1777040;1791250;1931894;2119408;2129332;5014740;5016364;5022200 D17S610;L18426;L18429;MARC_8233-8234:996688438:1;REN36776;RH46270;RH71294;RH93380;SHGC-31452;WI-22794 FLJ95217;GTK;KAT1;KATI;MGC29624 OTTHUMP00000022311;OTTHUMP00000022312;beta-lysase, kidney;cysteine conjugate-beta lyase;cysteine-S-conjugate beta-lyase;cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase);glutamine transaminase K;glutamine--phenylpyruvate transaminase;glutamine-phenylpyruvate aminotransferase;kyneurenine aminotransferase;kynurenine aminotransferase I;kynurenine--oxoglutarate transaminase 1;kynurenine--oxoglutarate transaminase I APPROVED protein-coding ENSG00000171097 HGNC:1564 02769 600547 REVIEWED 1606416 CCDC110 coiled-coil domain containing 110 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cyclosporin A; melphalan; trichostatin A 4 4 4 q35.1 183693987 183720463 - 186366336 186392913 - 185445182 185471759 - 6480464;8554872 12477932;14702039;15447989;15489334;18029348;18160854;21145461 256309 D6RB18;D6RCR3;D6RDN4;E7EUS2;H0Y9S3;Q8TBZ0 AB080722;ABBA01070532;ABBA01070533;AC106897;AI949455;AK097605;AK302815;AL833337;AMYH02010663;AMYH02010664;BC028419;BC038515;BU567268;BX641119;CH471056;DB453450;NM_001145411;NM_152775;XM_005262891;XM_006714172;XM_006714173;XR_427540 AAH28419;AAH38515;ABM85671;BAC05116;BAC81776;BAG64014;EAX04642;EAX04643;NP_001138883;NP_689988;Q8TBZ0;XP_005262948;XP_006714235;XP_006714236 Hs.41101 2145706 STS-H64141 CT52;KM-HN-1;KMHN1;MGC33607 OTTHUMP00000218164;OTTHUMP00000218165;OTTHUMP00000218166;OTTHUMP00000218206;cancer/testis antigen 52;cancer/testis antigen KM-HN-1;coiled-coil domain-containing protein 110 protein-coding ENSG00000168491 HGNC:28504 11335 609488 VALIDATED 1606143 CCDC112 coiled-coil domain containing 112 INTERACTS WITH clorgyline; cytarabine; fonofos 5 5 5 q22.3 110550404 110580924 - 114602885 114632458 - 115267188 115296761 - 6480464 12477932;15146197;16189514;17207965;8889548 153733 D6RF76;Q8NEF3 ABBA01069034;AC008494;AJ580807;AMYH02012000;BC031242;BM873447;BM873516;BM975079;CH471086;CN310912;CX786155;DB451908;DB455340;DB476530;NM_001040440;NM_152549;XM_005271908 AAH31242;ADQ31767;CAE45342;EAW48966;EAW48967;NP_001035530;NP_689762;Q8NEF3;XP_005271965 Hs.436121 1686849 RH91257 MBC1;MGC39633 OTTHUMP00000159134;OTTHUMP00000196940;OTTHUMP00000222913;OTTHUMP00000222914;coiled-coil domain-containing protein 112;mutated in bladder cancer 1;mutated in bladder cancer protein 1 protein-coding ENSG00000164221 HGNC:28599 11346 VALIDATED 1603946 CCDC115 coiled-coil domain containing 115 ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (+)-catechin; 17beta-estradiol; copper(2+) sulfate 2 2 2 q21.1 124369157 124373263 - 131095814 131100383 - 130337933 130342810 - 6480464;8554872 12477932;14702039;16344560;19946888;21118521;21139048;21832049;21890473;21900206 84317 B8ZZ99;F8WCZ3;Q96NT0 AA831631;ABBA01017957;AC132479;AK054693;AK092196;AK124405;AK295922;AMYH02004775;BC006429;CH471263;DB025106;DC340780;NM_032357;NR_104471;XM_005263825;XR_427117 AAH06429;AAY24075;BAB70794;BAG58709;EAW55610;EAW55611;EAW55612;NP_115733;Q96NT0;XP_005263882 Hs.104203;Hs.601991 2161660;2163287;2175081 A003B44;RH70800;WI-21758 FLJ30131;MGC12981;ccp1 OTTHUMP00000162399;OTTHUMP00000204515;OTTHUMP00000204516;coiled-coil domain-containing protein 115 protein-coding ENSG00000136710 HGNC:28178 14428 613734 VALIDATED 1606018 CCDC113 coiled-coil domain containing 113 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; protein complex; INTERACTS WITH 3,4-dichloroaniline; all-trans-retinoic acid; cyclosporin A 16 16 16 q21 42783261 42817187 + 58283840 58317740 + 58249936 58283836 + 6480464;8554872 11042152;11076863;11230166;11256614;12477932;15489334;15489336;16169070;16381901;18029348;23455924 29070 H3BMZ8;H3BQS9;Q9H0I3 ABBA01025300;AC009107;AF161550;AK027208;AK299066;AK314300;AL136785;AMYH02032117;BC126445;BC126447;CH471092;CR533506;DC369542;NM_001142302;NM_014157 AAF29037;AAI26446;AAI26448;ADR82957;BAB15692;BAG36954;BAG61132;CAB66719;CAG38537;CAL37709;EAW82970;NP_001135774;NP_054876;Q9H0I3 Hs.11614 1684995;1700190;1738631;2119570;5015861;5015961;5022383;5024761;5037552;7185938 D10S16;D15S1477;D16S2766;D8S2279;ECD04345;RH103710;RH36905;RH69554;RH98341 DKFZp434N1418;FLJ23555;HSPC065 OTTHUMP00000164725;coiled-coil domain-containing protein 113 protein-coding ENSG00000103021 HGNC:25002 07121 VALIDATED 1607037 CCDC106 coiled-coil domain containing 106 FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH atrazine; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.42 53201244 53206819 + 56158934 56164527 + 55647568 55653161 + 6480464 12477932;14702039;15489334;15790807;16169070;20159018;21832049;8619474;9110174 29903 K7EMI9;K7EMP7;K7ER22;K7ES29;Q9BWC9 ABBA01020862;AC008735;AF054984;AK097095;AMYH02036473;AY927563;AY927628;BC000412;BC008956;BI907663;CH471135;CR450308;GU354321;GU354322;GU354323;NM_013301;U79303;XM_005258827;XM_005258828 AAB50227;AAH00412;AAH08956;ABZ92128;ADC34060;ADC34061;ADC34062;BAG53421;CAG29304;EAW72401;NP_037433;Q9BWC9;XP_005258884;XP_005258885 Hs.82482 HSU79303;ZNF581 coiled-coil domain-containing protein 106;protein predicted by clone 23882 protein-coding HGNC:30181 09995 613478 VALIDATED 1602080 CCDC114 coiled-coil domain containing 114 This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013] 19 19 19 q13.33 45664943 45688566 - 48799709 48825191 - 48296452 48321934 - 6480464;8699517;7240710;8554872 12477932;14702039;16344560;19913121;20628086;23261302;23261303;23506398;24250222 93233 Q96M63 ABBA01033001;ABBA01033002;ABBA01033003;ABBA01033004;ABBA01033005;AC008392;AK057357;AK057488;AK128144;AL122083;AMYH02036292;BC007730;BC025752;BC031619;BC117431;BC117433;BX101994;CH471177;DB060305;NG_033251;NM_144577;XM_005259413;XM_005259414;XM_005259415;XM_005259416;XM_006723504;XR_430222 AAI17432;AAI17434;BAB71448;BAB71508;BAC87296;CAB59257;EAW52327;EAW52328;EAW52329;EAW52330;EAW52331;EAW52332;NP_653178;Q96M63;XP_005259470;XP_005259471;XP_005259472;XP_005259473;XP_006723567 Hs.112645 1700918;5014063 D15S1390;RH104086 CILD20;FLJ32926 OTTHUMP00000209278;coiled-coil domain-containing protein 114 protein-coding ENSG00000105479 HGNC:26560 08149 615038;615067 REVIEWED 1602289 CCDC116 coiled-coil domain containing 116 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; phenobarbital 22 22 22 q11.21 5804626 5809156 + 21987086 21991616 + 21632797 21637327 + 6480464;8554872 12477932;14702039;15489334;16189514;16396496;23072936;23128233 164592 B7Z7H5;C9JW89;Q8IYX3 ABBA01055055;AK093365;AK302030;AMYH02038120;AP000553;BC033499;CH471095;HC006868;NM_152612;XM_006724159;XM_006724160 AAH33499;ADZ15446;BAC04145;BAH13611;CBH19239;EAW59465;EAW59466;NP_689825;Q8IYX3;XP_006724222;XP_006724223 Hs.131615 1788944 UniSTS:225108 FLJ36046 OTTHUMP00000198555;OTTHUMP00000198557;coiled-coil domain-containing protein 116 protein-coding ENSG00000161180 HGNC:26688 08203 PROVISIONAL 6768870 CCDC11P1 coiled-coil domain containing 11 pseudogene 1 5 5 5 p13.1 39459323 39460515 - 39571582 39572774 - 39571480 39572672 - 100129040 ABBA01024212;AC026708;AMYH02011197;NG_021844 1337385;1651493;1704194;1715061 CHLC.GATA22B04;D5S577;RH119482;SHGC-79824 pseudo HGNC:43919 INFERRED 1605304 CCDC124 coiled-coil domain containing 124 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cell division (inferred); FOUND IN cytoplasm; plasma membrane; INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); C60 fullerene (ortholog) 19 19 19 p13.11 17945548 17956518 + 18043824 18054794 + 17933015 17943985 + 6480464 12477932;15342556;15489334;17207965;21139048;21145461;21903422;22863883;23894443;24778252;24816145 115098 M0R2F5;Q96CT7 ABBA01051237;AC005602;AC011540;AF086307;AMYH02035714;BC013949;BG829184;BM998230;BP309483;BQ669035;CH471106;DB503140;NM_001136203;NM_138442 AAH13949;ADQ32220;EAW84644;EAW84645;NP_001129675;NP_612451;Q96CT7 Hs.100043 1677468;1683225 RH46130;RH93753 coiled-coil domain-containing protein 124 protein-coding ENSG00000007080 HGNC:25171 14008 VALIDATED 1603009 CCDC121 coiled-coil domain containing 121 INTERACTS WITH all-trans-retinoic acid; calcitriol; copper(2+) sulfate 2 2 2 p23.3 27693962 27697354 - 27848408 27851898 - 27625541 27629031 - 6480464 11181995;12477932;14702039;16344560;21386085;23455924 79635 E5RHR4;Q6ZUS5 ABBA01045213;AC074091;AK023708;AK124337;AK125354;AMYH02003480;BC056244;BC066936;BC066969;CH471053;DB044538;DB325100;DB444296;DB452051;DB554665;NM_001142683;NM_024584;XM_005264560 AAH66936;AAH66969;AAX93200;ADZ15612;BAB14651;BAC86143;BAG54028;EAX00560;EAX00561;NP_001136155;NP_078860;Q6ZUS5;XP_005264617 Hs.21081 2117114;2117116;2169301;2172690 A006C05;D2S1424;G20691;WI-18604 FLJ13646;FLJ43364 OTTHUMP00000158534;OTTHUMP00000200844;OTTHUMP00000225829;coiled-coil domain-containing protein 121 protein-coding ENSG00000176714 HGNC:25833 07834 VALIDATED 1602063 CCDC122 coiled-coil domain containing 122 INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 13 13 13 q14.11 25466632 25509968 - 44410488 44453826 - 43836352 43879690 - 6480464 12477932;14702039;16344560;17672918;20018961 160857 B7ZMJ0;Q5T0U0 ABBA01021238;AK056408;AL512506;AMYH02027949;AW373287;BC137289;BC137290;BC144570;BC144571;CA427248;CH471075;DA739121;NM_144974;XM_005266273 AAI37290;AAI37291;AAI44571;AAI44572;BAB71178;EAX08697;EAX08698;EAX08699;EAX08700;NP_659411;Q5T0U0;XP_005266330 Hs.170849 2183378;5014051;5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2278;D8S2279;RH65800 FLJ31846 OTTHUMP00000018805;OTTHUMP00000178592;coiled-coil domain-containing protein 122 protein-coding ENSG00000151773 HGNC:26478 13406 613408 VALIDATED 1602294 CCDC117 coiled-coil domain containing 117 INTERACTS WITH 2-methylcholine; benzo[a]pyrene; copper(2+) sulfate 22 22 22 q12.1 12968632 12985253 + 29168662 29185283 + 28772674 28789301 + 6480464 10591208;12477932;14702039;15461802;15489334;16344560;18029348;19322201;19875381;21139048;24816145;25036637 150275 B0QYH1;B0QYH3;B7Z820;F8WBN8;Q8IWD4 ABBA01055242;AK091133;AK092636;AK127794;AK289516;AK295140;AK302798;AK302925;AL023494;AMYH02038193;BC040488;BC053874;BC065549;CH471095;CR456461;CS185626;DB087275;HY224937;NM_001284263;NM_001284264;NM_001284265;NM_173510;Z93930 AAH40488;AAH53874;AAH65549;BAC03592;BAF82205;BAH11987;BAH13806;BAH13846;CAG30347;CAJ42807;EAW59761;EAW59762;NP_001271192;NP_001271193;NP_001271194;NP_775781;Q8IWD4 Hs.406460 1663405;1680463;1684300;1721455;2170239;2170241 A002B44;CHLC.GAAT4H07;D22S1010E;G19906;G59579;WIAF-2134 FLJ33814;dJ366L4.1 OTTHUMP00000199103;coiled-coil domain-containing protein 117 protein-coding ENSG00000159873 HGNC:26599 08167 VALIDATED 1603363 CCDC127 coiled-coil domain containing 127 INTERACTS WITH copper(2+) sulfate; pirinixic acid; potassium dichromate 5 5 5 p15.33 304440 317859 - 204875 218333 - 204760 218218 - 6480464 12477932;14702039;15231748;15489334;17207965;21890473;21906983;24250222 133957 D6R9R2;Q96BQ5 ABBA01034262;ABBA01034263;AC021087;AK098567;AMYH02010746;BC015349;CH471235;NG_033064;NM_145265;XM_005248246 AAH15349;ADQ31884;BAC05336;EAW50981;NP_660308;Q96BQ5;XP_005248303 Hs.294145 FLJ25701 OTTHUMP00000220452;OTTHUMP00000220453;coiled-coil domain-containing protein 127 protein-coding HGNC:30520 14053 VALIDATED 1602081 CCDC126 coiled-coil domain containing 126 ENCODES a protein that exhibits alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (inferred); INVOLVED IN protein N-linked glycosylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 7 7 7 p15.3 23625775 23673096 + 23636998 23684327 + 23597379 23644708 + 6480464;8554872 12477932;12690205;12975309;19946888;23275563;9847074 90693 C9J0J0;Q96EE4 ABBA01056713;AC006026;AK026684;AK289911;AL598772;AMYH02015369;AY358713;BC012427;BC104638;CH236948;CH471073;NM_138771 AAH12427;AAI04639;AAQ89075;AAQ96871;BAF82600;EAL24252;EAW93792;EAW93793;EAW93794;EAW93795;EAW93796;NP_620126;Q96EE4 Hs.232296 1341384;1699434 D7S2463;RH103308 FLJ23031;MGC104248 OTTHUMP00000158577;OTTHUMP00000202196;OTTHUMP00000202197;alpha-1,3(6)-mannosylglycoprotein beta-1,6-N-acetyl-glucosaminyltransferase-like;coiled-coil domain-containing protein 126 protein-coding ENSG00000169193 HGNC:22398 14278 VALIDATED 1604967 CCDC129 coiled-coil domain containing 129 ENCODES a protein that exhibits receptor binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol (ortholog); titanium dioxide (ortholog) 7 7 7 p14.3 31544550 31679665 + 31553685 31698334 + 31514071 31658720 + 6480464;8554872 12477932;14702039;16344560;20379614 223075 B8ZZ49;E7EQ43;E7ERG9;Q6ZRS4 AACC02000087;ABBA01056821;ABBA01056822;ABBA01056823;AC005090;AC006044;AK095663;AK128026;AK295011;AK304387;AMYH02015468;AMYH02015469;AMYH02015470;BC132719;DA098735;KF458428;NM_001257967;NM_001257968;NM_194300;NR_047565;XM_005249661 AAI32720;BAC87235;BAG53101;BAG58071;BAG65223;EAL24442;NP_001244896;NP_001244897;NP_919276;Q6ZRS4;XP_005249718 Hs.224269 1338601;1696814;1711852;1717573;2182862 D7S474;D7S693;G49151;G49458;RH122091 FLJ38344 OTTHUMP00000158773;OTTHUMP00000197875;OTTHUMP00000202960;coiled-coil domain-containing protein 129 protein-coding ENSG00000180347 HGNC:27363 14137 VALIDATED 1604584 CCDC130 coiled-coil domain containing 130 INVOLVED IN response to virus; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cyclosporin A; diazinon; hydrogen peroxide 19 19 19 p13.2 13752540 13767891 + 13842574 13874108 + 13731760 13763294 + 6480464;8554872 12477932;14702039;15489334;16169070;16189514;17081983;17207965;22365833;3203696 81576 K7EJZ6;K7ELI4;K7EP29;K7EPA5;K7ES43;P13994 ABBA01029723;ABBA01029724;ABBA01029725;AC008686;AF250306;AK098262;AK293927;AMYH02035586;BC002905;CH471106;KC877714;NM_030818;X13956;XM_005260085;XM_005260086;XM_005260087;XM_005260088;XM_006722914 AAH02905;AAK37425;ADQ31796;BAG53603;BAH11628;CAA32138;EAW84367;EAW84368;NP_110445;P13994;XP_005260142;XP_005260143;XP_005260144;XP_005260145;XP_006722977 Hs.24998 2157596 RH78312 MGC10471 9 kDa protein;coiled-coil domain-containing protein 130 protein-coding ENSG00000104957 HGNC:28118 11304 PROVISIONAL 1343271 CCDC12 coiled-coil domain containing 12 PARTICIPATES IN spliceosome pathway; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; formaldehyde 3 3 3 p21.31 46901718 46956791 - 46963220 47023500 - 46921726 46982010 - 737633;6480464;6907045 12477932 14702039;15146197;15489334;17207965;20360068;21103663;21139048;22269669;22365833;24250222;24816145;8889548 151903 C9JUN5;J3KR35;Q8WUD4;S4R331 ABBA01024708;ABBA01024709;ABBA01024710;AC094020;AC109583;AK096749;AK098120;AK295532;AK303160;AMYH02006677;AMYH02006678;BC020830;BM676030;BM803652;BQ709657;BX098833;CH471055;CN430023;CV574708;DA952452;DC379144;NM_001277074;NM_144716;NR_102269;XM_006712991;XM_006712992 AAH20830;ADQ32239;BAC04857;BAG58444;BAG64261;EAW64795;EAW64796;EAW64797;EAW64798;EAW64799;NP_001264003;NP_653317;Q8WUD4;XP_006713054;XP_006713055 Hs.631918;Hs.692157;Hs.745081 1712154;1769976 G54127;STS-N26202 FLJ39430;FLJ40801;MGC23918 OTTHUMP00000164781;coiled-coil domain-containing protein 12 protein-coding ENSG00000160799 HGNC:28332 13007 VALIDATED 1350707 CCDC13 coiled-coil domain containing 13 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); pentachlorophenol (ortholog); titanium dioxide (ortholog) 3 3 3 p22.1 42690269 42755122 - 42749764 42814745 - 42708272 42773253 - 737633;6480464 12477932 15489334;20379614;23251661;24024966;8889548 152206 Q8IYE1;Q96LI1 ABBA01024763;AC006059;AC099329;AK058196;AK302859;AMYH02006629;BC036050;BM664398;CH471055;NM_144719;XM_005264898;XM_005264899 AAH36050;BAB71711;BAG64044;EAW64669;EAW64670;EAW64671;NP_653320;Q8IYE1;XP_005264955;XP_005264956 Hs.604182 1339056;2142757 D3S2304;D3S4039 FLJ25467 OTTHUMP00000164041;coiled-coil domain-containing protein 13 protein-coding ENSG00000244607 HGNC:26358 08692 VALIDATED 1626254 CCDC137P coiled-coil domain containing 137 pseudogene 3 3 3 p13 72066779 72067549 + 72136041 72136811 + 72086890 72087660 + 642802 ABBA01030943;AC105265;AMYH02007056;NG_009746 pseudo HGNC:33459 INFERRED 1606197 CCDC120 coiled-coil domain containing 120 This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012] X X X p11.23 52736981 52747975 - 48910961 48927510 + 49053432 49069858 + 6480464 12477932;14702039;15489334;16189514;16344560;19377476;19447967;24250222 90060 A8K5Q5;B4DF24;Q96HB5;S4R3T7 ABBA01046107;ABBA01046108;ABBA01046109;ABBA01046110;AC231657;AF196779;AK001937;AK056290;AK125424;AK291370;AK293898;AK294024;AK300366;AK315837;AMYH02039318;BC008769;CH471224;DA102343;DA105393;DA237030;NG_016255;NM_001163321;NM_001163322;NM_001163323;NM_001271835;NM_001271836;NM_033626 AAH08769;ABM83863;ABM84608;ABM87185;ABM87192;ABW03534;ABW03839;BAF84059;BAF98728;BAG57285;BAG57382;BAG62104;EAW50708;EAW50709;EAW50710;NP_001156793;NP_001156794;NP_001156795;NP_001258764;NP_001258765;NP_296375;Q96HB5 Hs.522643 5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2279 JM11 OTTHUMP00000023269;coiled-coil domain-containing protein 120 APPROVED protein-coding ENSG00000147144 HGNC:28910 06595 REVIEWED 6481201 CCDC13-AS1 CCDC13 antisense RNA 1 3 3 p22.1 42774067 42788260 + 42732575 42745158 + 16344560 100874114 ABBA01024763;AC006059;AI619493;AK098828;AMYH02006629;BX111635;DB179860;HG495622;HG495623;NR_046732 Hs.669654 RP4-613B23.4 APPROVED ncrna ENSG00000173811 HGNC:41142 VALIDATED 1604973 CCDC125 coiled-coil domain containing 125 FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; cyclosporin A 5 5 5 q13.2 65578896 65619200 - 68576519 68628623 - 69280692 69332833 - 6480464 12477932;18029348;19787194 202243 F8W912;Q86Z20 AB024691;AB024692;ABBA01048277;ABBA01048278;ABBA01048279;ABBA01048280;AC145132;AC145145;AI141520;AK299871;AL832658;AMYH02011470;AMYH02011471;AMYH02011472;BC108715;BC113749;BQ923745;CH471137;NM_001297696;NM_001297697;NM_176816;XM_005248457;XM_005248458;XM_005248459;XM_005248460;XM_005248461;XM_005248462;XM_005248463;XM_005248464;XM_005248465;XM_005276761;XM_005276762;XM_005276763;XM_005276764;XM_005276765;XM_005276766;XM_005276767;XM_005276768;XM_005276769;XM_006714569;XM_006714570;XM_006726214;XM_006726215 AAI13750;AAI60002;BAC57450;BAC57451;BAG61723;EAW51298;EAW51299;NP_001284625;NP_001284626;NP_789786;Q86Z20;XP_005248514;XP_005248515;XP_005248516;XP_005248517;XP_005248518;XP_005248519;XP_005248520;XP_005248521;XP_005248522;XP_005276818;XP_005276819;XP_005276820;XP_005276821;XP_005276822;XP_005276823;XP_005276824;XP_005276825;XP_005276826;XP_006714632;XP_006714633;XP_006726277;XP_006726278 Hs.654850 1728449;5014740;5014959;5015619;5015881;5017227;5022651;5037552;5109549;5118444 D11S2921;D11S3114;D11S3316;D17S610;D21S1698;D8S2279;G38154;G63660;GDB:335751;L31433 Kenae;OTTHUMP00000161932;OTTHUMP00000192869;OTTHUMP00000222129;coiled-coil domain-containing protein 125 protein-coding ENSG00000183323 HGNC:28924 13774 613781 VALIDATED 1625086 CCDC137 coiled-coil domain containing 137 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH aflatoxin B1; copper atom; copper(0) 17 17 17 q25.3 76278678 76285854 + 79633761 79640937 + 81666731 81673907 + 6480464 12477932;16169070;17207965;21044950;23000965;23602568;24816145 339230 I3L0U5;I3L385;I3L4F6;Q6PK04 ABBA01032159;AC139530;AMYH02034134;BC009369;BC052272;BM548065;CH471099;FJ649645;NM_199287 AAH09369;ACX50616;ADQ32182;EAW89669;NP_954981;Q6PK04 Hs.744125 1697852;1780140 RH102453;SHGC-154444 MGC16597 coiled-coil domain-containing protein 137;hepatocellular carcinoma related protein 2 protein-coding ENSG00000185298 HGNC:33451 614271 VALIDATED 1603550 CCDC138 coiled-coil domain containing 138 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 q12.3 103713196 103802791 + 109403208 109493047 + 108786752 108876591 + 6480464;8554872 12477932;14702039;17203973;21139048;21890473;21906983;21963094;22118674;22505724;22797925;24255178 165055 F8WF51;H7BZ08;H7C005;Q96M89;V9GZ19 ABBA01000764;ABBA01000765;AC010095;AC073415;AK057307;AK125199;AMYH02004512;AMYH02004513;AMYH02004514;BC015847;BC038421;BC050579;CH471182;NM_144978;XM_005263894;XM_005263895;XM_006712344;XM_006712345 AAH15847;AAH50579;AAX88855;AAY14985;BAB71420;BAC86081;EAW53870;EAW53871;EAW53872;EAW53873;NP_659415;Q96M89;XP_005263951;XP_005263952;XP_006712407;XP_006712408 Hs.731709 1673898;1683016;1857034;2114074;2132738 AB070186;RH70637;RH78999;RH79061;RH98799 FLJ32745 OTTHUMP00000161605;OTTHUMP00000203903;coiled-coil domain-containing protein 138 protein-coding ENSG00000163006 HGNC:26531 08136 PROVISIONAL 1606203 CCDC142 coiled-coil domain containing 142 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 2 2 2 p13.1 74531147 74541522 - 74699959 74710357 - 74472832 74483230 - 6480464;8554872 12477932;14702039;16303743;21790010;8889548 84865 H7C450;Q17RM4 ABBA01075602;AC005041;AK027303;AK075543;AMYH02004091;BC117269;BC143398;BC143399;CH471053;CS051387;NM_032779 AAI17270;AAI43399;ADR83249;BAC11686;CAI72188;EAW99650;NP_116168;Q17RM4 Hs.430199 5014740;5015404;5015619;5015961;5016478;5020946;5022322;5022578;5024413;5037552;5109281 D11S2560;D11S3114;D15S1477;D17S610;D1S1423;D1S1425;D8S2279;GDB:434012;L17705;L17877;L17971 FLJ14397;FLJ90728 OTTHUMP00000160422;OTTHUMP00000202625;OTTHUMP00000202626;coiled-coil domain-containing protein 142 protein-coding HGNC:25889 08598 VALIDATED 1604321 CCDC136 coiled-coil domain containing 136 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 7 7 7 q33 123227853 123258698 + 128431464 128462187 + 128791410 128822133 + 6480464;8554872 11347906;12477932;12690205;14702039;15112360;15231747;16713569;17043677;20877624;21900206;24722188 64753 C9IYI5;C9J884;C9JAD8;C9JE17;C9JU31;H0Y876;H7C4R2;Q96JN2 AB058696;ABBA01057655;AC024952;AC025594;AI611323;AK023500;AK124447;AL133027;AMYH02016719;BC070114;BC150331;BC152408;BX952188;CH236950;CH471070;DR003042;NM_001201372;NM_022742;XM_005250534;XM_005250535;XM_005250536;XM_005250537;XM_005250538;XM_005250539;XM_005250540;XM_006716089;XM_006716090;XM_006716091 AAI50332;AAI52409;BAB14590;BAB47422;BAC85854;CAB61359;EAL24111;EAW83681;EAW83682;EAW83683;EAW83684;EAW83685;EAW83686;EAW83687;EAW83688;NP_001188301;NP_073579;Q96JN2;XP_005250591;XP_005250592;XP_005250593;XP_005250594;XP_005250595;XP_005250596;XP_005250597;XP_006716152;XP_006716153;XP_006716154 Hs.521178 1773142;2139024;5125569 D7S2100E;GDB:4585443;RH66361 DKFZp434G156;MGC129657;MGC176632;NAG6 OTTHUMP00000212772;OTTHUMP00000212773;OTTHUMP00000212774;OTTHUMP00000212775;OTTHUMP00000212776;coiled-coil domain-containing protein 136;nasopharyngeal carcinoma-associated gene 6 protein protein-coding ENSG00000128596 HGNC:22225 10887 611902 VALIDATED 1605621 CCDC134 coiled-coil domain containing 134 FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amiodarone; aflatoxin B1 (ortholog) 22 22 22 q13.2 26002745 26028378 + 42196636 42228175 + 41800632 41826302 + 6480464 10591208;12477932;14702039;15461802;15489334;16196087;16713569;16751776;18087676;18187620;19946888;21123754;21890473;22644376;23070808;23383273 79879 B0QY51;Q9H6E4 ABBA01055652;ABBA01055653;ABBA01055654;AK026002;AK054703;AK124515;AK299311;AL021453;AMYH02038449;BC017693;BX473493;CA420664;CH471095;CR456484;DQ595347;DQ595611;NM_024821;XM_005261748 AAH17693;ADZ15807;BAB15315;BAG61322;CAG30370;EAW60468;NP_079097;Q9H6E4;XP_005261805 Hs.442623;Hs.474991 1661082;1711800 G49425;SHGC-36258 FLJ22349;MGC21013;dJ821D11.3 OTTHUMP00000199517;coiled-coil domain-containing protein 134 protein-coding ENSG00000100147 HGNC:26185 07988 VALIDATED 1604352 CCDC132 coiled-coil domain containing 132 FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 7 7 7 q21.3 87566164 87692840 + 92861653 92990435 + 93232340 93361123 + 6480464 11347906;12477932;12690205;12853948;14702039;17207965;19056867;19913121;19946888;20628086;21472204;21906983;23383273;24816145 55610 B4DS55;C9JA29;F2Z3F0;F8WDT1;H0Y7Q2;H7BZP1;Q5JPD9;Q75N11;Q96JG6 AA724937;AB058764;AB100163;ABBA01045792;ABBA01045793;ABBA01045794;AC002379;AC002453;AK000104;AK027234;AK055965;AK126478;AK299582;AL832393;AL833112;AMYH02016278;AMYH02016279;BC017888;BC035984;BC047757;BC108708;BC132740;BC132742;BC152424;BE671517;CB985373;CH236949;CH471091;KF511049;NM_001257998;NM_017667;NM_024553;XM_005250487 AAH17888;AAI08709;AAI32741;AAI32743;AAI52425;AAI60012;AAS02013;AAS02014;AAS02023;ADQ32145;BAA90948;BAB15701;BAB47490;BAG54334;BAG61517;BAI52922;CAI46135;EAL24143;EAW76815;EAW76816;EAW76817;EAW76818;EAW76819;EAW76820;EAW76821;NP_001244927;NP_060137;NP_078829;Q96JG6;XP_005250544 Hs.202424 1338726;1667914;1671490;1696846;1703520;1759053;2132039;2187401;7186132 D7S652;G49167;GDB:1318432;RH44310;RH44982;RH48622;SHGC-150613;SHGC-82660 FLJ20097;FLJ23581;KIAA1861;MGC176659 OTTHUMP00000162526;OTTHUMP00000208668;coiled-coil domain-containing protein 132 protein-coding ENSG00000004766 HGNC:25956 VALIDATED 1626599 CCDC144A coiled-coil domain containing 144A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; arsenite(3-); kojic acid 17 17 17 p11.2 16496531 16496950 + 16593549 16678311 + 16690235 16774997 + 6480464;8554872 11997339;12477932;18655026;9628581 9720 A2RUR9;A6NG92;A6NJB5;C9JAY6;C9JT67 AB011137;ABBA01001825;ABBA01035645;ABBA01035646;ABBA01035647;AC098850;AK125971;AMYH02033081;BC034617;BC133019;BC144224;BC144225;NM_014695;XM_005256877;XM_006721607;XM_006721608 A2RUR9;AAI33020;AAI44225;AAI44226;BAA25491;BAC86369;NP_055510;XP_005256934;XP_006721670;XP_006721671 Hs.745246 2133142;2183911 G16511;SHGC-64094 FLJ43983;KIAA0565;MGC164650 OTTHUMP00000065240;coiled-coil domain-containing protein 144A protein-coding ENSG00000170160 HGNC:29072 PROVISIONAL 1602834 CCDC140 coiled-coil domain containing 140 This gene encodes a protein that appears to be restricted to select higher primate species. This protein contains a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic alpha-helices that twist around each other to form a supercoil. [provided by RefSeq, Aug 2011] 2 2 2 q36.1 216930889 216937943 + 223162866 223169936 + 222298147 222305217 + 6480464 11166216;12477932;14702039;14760737;9138288 151278 C9K0E1;Q96MF4 ABBA01023816;AC010980;AK057009;AMYH02005857;BC109388;CH471063;NG_021186;NM_153038 AAI09389;AAY14901;BAB71341;EAW70798;NP_694583;Q96MF4 Hs.350729 1741981;1745265;1745375 GDB:187424;GDB:596326;GDB:603639 FLJ32447;MGC133159 OTTHUMP00000164204;OTTHUMP00000203835;coiled-coil domain-containing protein 140 APPROVED protein-coding ENSG00000163081 HGNC:26514 08132 VALIDATED 1606113 CCDC141 coiled-coil domain containing 141 INVOLVED IN centrosome localization (inferred); cerebral cortex radially oriented cell migration (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centrosome (inferred); cytoplasm (inferred); INTERACTS WITH copper atom; copper(0); aflatoxin B1 (ortholog) 2 2 2 q31.2 173288863 173509183 - 179694484 179914841 - 178829757 179050111 - 6480464;8554872 12477932;12812986;14702039;19536175;20956536;22505724;23583979;24165912 285025 B8ZZB3;C9JR62;E7ERF0;H7C0P1;J3KNW6;Q6ZP82 ABBA01062248;ABBA01062249;ABBA01062250;ABBA01062251;ABBA01062252;ABBA01062253;AC023270;AC092640;AC093792;AK096821;AK129847;AL832777;AMYH02005331;AMYH02005332;AMYH02005333;BC087856;BC108697;BC115378;BX649042;CH471058;NM_173648;XM_006712440 AAI08698;AAI15379;AAX88845;BAC04869;BAC85242;EAX11011;EAX11012;NP_775919;Q6ZP82;XP_006712503 Hs.324341 1659674;1763343 D2S2804;SHGC-147067 DKFZp686G197;FLJ26337;FLJ39502;MGC134803 CAMDI;OTTHUMP00000205978;coiled-coil domain-containing protein 141;coiled-coil protein associated with myosin II and DISC1 protein-coding ENSG00000163492 HGNC:26821 08257 616031 PROVISIONAL 1605248 CCDC144B coiled-coil domain containing 144B (pseudogene) INTERACTS WITH silicon dioxide; 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 17 17 17 p11.2 239 667 - 18441114 18528930 - 18537800 18625617 - 6480464 11997339;12477932;14702039;16344560 284047 Q3MJ40 ABBA01001018;ABBA01003918;ABBA01013324;AC026271;AC107983;AK093811;AMYH02033116;BC062767;BC101585;BC104815;BC143561;BX647826;DB113689;EF553518;KF495728;NR_036647 AAH62767;AAI01586;AAI04816;AAI43562;ABQ66264;Q3MJ40 Hs.448012;Hs.745246 5095864;5114870 D17S1980;SHGC-57390 FLJ36492;MGC126634 coiled-coil domain-containing protein 144B APPROVED pseudo ENSG00000154874 HGNC:26704 08777 PROVISIONAL 1348740 CCDC14 coiled-coil domain containing 14 INVOLVED IN substantia nigra development; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centrosome; INTERACTS WITH 2-methylcholine; atrazine; calcitriol 3 3 3 q21.1 122039702 122087793 - 123616152 123680255 - 123897305 123961408 - 737633;6480464;8554872 12477932 14702039;15146197;15342556;15840729;16189514;16344560;16713569;17043677;19322201;19615732;20936779;21139048;21832049;21906983;21963094;21987572;21988832;22505724;23000965;23455924;24613305;24726327 64770 C9J6B5;C9JSI8;C9JU82;C9JWZ1;H3BM06;H7C2U5;H7C5T3;J3QT39;Q49A88 AA743688;ABBA01016447;ABBA01016448;AC117381;AF086562;AI435151;AK022954;AK027607;AK123060;AK294979;AK295091;AK307847;AL122079;AL833312;AMYH02007558;BC020246;BC040285;BC042613;BG621278;BP213762;BP382977;BX537652;CH471052;CN424790;DA031063;DB037501;DB306263;DB471090;NM_022757;XM_005247710;XM_005247711;XM_005247712;XM_005247713;XM_005247714;XM_005247715;XM_005247716;XM_006713731;XM_006713732;XM_006713733 AAH20246;AAH40285;AAH42613;BAB14329;BAB55229;BAH11939;BAH11968;CAB59254;CAD91162;CAD97804;EAW79429;EAW79430;EAW79431;EAW79432;EAW79433;EAW79434;NP_073594;Q49A88;XP_005247767;XP_005247768;XP_005247769;XP_005247770;XP_005247771;XP_005247772;XP_005247773;XP_006713794;XP_006713795;XP_006713796 Hs.645028 1335827;2145008;2184248 A006P02;D3S3519;SHGC-77280 DKFZp434L1050;FLJ12892;FLJ41065 OTTHUMP00000202862;OTTHUMP00000202863;OTTHUMP00000202864;OTTHUMP00000215968;OTTHUMP00000215969;coiled-coil domain-containing protein 14 protein-coding ENSG00000175455 HGNC:25766 07801 VALIDATED 6766595 CCDC148-AS1 CCDC148 antisense RNA 1 2 2 q24.1 159023162 159092681 + 158166650 158236169 + 12477932 554201 Q4ZG13 ABBA01004850;AC069146;AMYH02005057;BC021739;HG494777;NR_038850 AAX88932 Hs.570262 AC069146.2 APPROVED ncrna ENSG00000227480 HGNC:44134 VALIDATED 1603856 CCDC144NL coiled-coil domain containing 144 family, N-terminal like INTERACTS WITH 3-methylcholanthrene; silicon dioxide 17 17 17 p11.2 21742454 21775198 + 20766708 20799453 - 20863395 20896140 - 6480464 12477932;21832049;23720494 339184 Q6NUI1 ABBA01050452;AC090774;AMYH02033192;BC068597;NM_001004306 AAH68597;NP_001004306;Q6NUI1 Hs.674830 1788246 D7S3105 MGC87631 OTTHUMP00000163109;putative coiled-coil domain-containing protein 144 N-terminal-like protein-coding ENSG00000205212 HGNC:33735 17572 PROVISIONAL 1626596 CCDC144CP coiled-coil domain containing 144C, pseudogene INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog); benzo[a]pyrene (ortholog) 17 17 17 p11.2 1 4421 + 20224487 20305504 + 20321174 20402191 + 6480464 11997339;12477932;16344560 348254 Q8IYA2 ABBA01054581;ABBA01054582;AC008088;AC015818;AK295707;AL162090;AL162091;AMYH02033185;BC036241;DA321951;DV080283;DV080284;NR_023380 BAG58553 Hs.462475 2183911;5015861;5037552;7185938 D10S16;D8S2279;SHGC-64094 CCDC144C;KIAA0565 APPROVED pseudo HGNC:29073 PROVISIONAL 1604533 CCDC148 coiled-coil domain containing 148 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH methyl methanesulfonate; paracetamol; valproic acid 2 2 2 q24.1 152644608 152930040 - 159027869 159313297 - 158171357 158456785 - 6480464;8554872 12477932;14702039;16344560;19060904;19401682;20379614;21297076 130940 B8ZZV3;F8WBK8;F8WC92;F8WCV9;F8WCW7;Q8NFR7 ABBA01004850;AC008070;AC019044;AC069146;AF458588;AK058105;AK123220;AK308783;AK309246;AK311042;AMYH02005057;BC015395;BC031994;BC105928;BC107596;BC107597;CH471058;DA230063;NM_001171637;NM_001301684;NM_001301685;NM_138803;XM_005246319;XM_005246320;XM_006712296;XM_006712297;XM_006712298 AAH15395;AAI05929;AAI07597;AAI07598;AAM49716;AAX88933;AAX88983;AAY14928;BAB71668;EAX11434;EAX11435;NP_001165108;NP_001288613;NP_001288614;NP_620158;Q8NFR7;XP_005246376;XP_005246377;XP_006712359;XP_006712360;XP_006712361 Hs.668597 1646122;1696784;1728953;1784114;1856924 D10Bir6;D2S2686;RH78496;SHGC-153856;SHGC-79818 MGC125588;MGC125590 OTTHUMP00000204753;OTTHUMP00000204759;coiled-coil domain-containing protein 148 protein-coding ENSG00000153237 HGNC:25191 14046 VALIDATED 1606995 CCDC149 coiled-coil domain containing 149 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; methyl methanesulfonate; silicon dioxide (ortholog) 4 4 4 p15.2 25257207 25430723 - 24807739 24981826 - 24806117 24980204 - 6480464;8554872 12477932;14702039;16344560;17457313;18482256;19850743;20379614;21139048;21832049;8889548 91050 Q6ZUS6 ABBA01032684;ABBA01032685;ABBA01032686;ABBA01032687;ABBA01032688;ABBA01032689;AC006390;AC113614;AC116422;AF086111;AK023472;AK125353;AK296454;AK302905;AL834257;AMYH02008906;AMYH02008907;BC057761;BC067735;CB243678;CH471069;DA950851;DB244172;DC422585;DR423861;NM_001130726;NM_173463;XM_005248210;XM_006713985 AAH57761;AAH67735;BAC86142;BAG59102;BAG64075;CAD38932;EAW92824;EAW92825;EAW92826;NP_001124198;NP_775734;Q6ZUS6;XP_005248267;XP_006714048 Hs.106432 1339837;1341345;1683207;1697730;1700056;1756031;1850688;1855104 D4S1110;D4S2911;D4S3052;RH102387;RH103641;SHGC-142844;SHGC-67338;SHGC-67371 DKFZp761B107;FLJ13410 OTTHUMP00000217986;OTTHUMP00000217987;coiled-coil domain-containing protein 149 protein-coding ENSG00000181982 HGNC:25405 10908 VALIDATED 1605034 CCDC15 coiled-coil domain containing 15 FOUND IN centrosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; calcitriol 11 11 11 q24.2 121984158 122071427 + 124824017 124911385 + 124954121 125041489 + 6480464 12477932;14702039;20379614;21832049;21890473;24324551;25015289 80071 E9PKB1;Q0P6D6 ABBA01031248;AK023277;AMYH02025731;AP003501;AW339835;BC018540;BU569785;CH471065;DB516555;NM_025004;XM_006718916;XM_006718917;XM_006718918;XM_006718919;XM_006718920 AAH18540;BAB14504;EAW67617;EAW67618;NP_079280;Q0P6D6;XP_006718979;XP_006718980;XP_006718981;XP_006718982;XP_006718983 Hs.287555 1740817;1748807;1782440;2066372;2156986;2183507 D11S1041;D11S1147;D11S4443;REN104373;SHGC-110431;SHGC-155035 FLJ13215 OTTHUMP00000231542;OTTHUMP00000231543;coiled-coil domain-containing protein 15 protein-coding ENSG00000149548 HGNC:25798 07820 VALIDATED 1605975 CCDC146 coiled-coil domain containing 146 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; bisphenol A; hydralazine 7 7 7 q11.23 71497691 71625151 + 76751934 76924534 + 77122617 77295213 + 6480464;8554872 10819331;12477932;14702039;16344560;20379614;20935630;21145461;22952603 57639 C9JRR4;Q8IYE0;Q96MS1 AB040938;ABBA01058000;ABBA01058001;AC007000;AC073635;AC098851;AF461817;AK056542;AK292491;AMYH02016096;BC029458;BC036053;BX649000;CH471091;DB099681;HM370402;NM_020879;XM_005250513;XM_005250514 AAH29458;AAH36053;AAP97709;BAA96029;BAB71211;BAF85180;EAW77041;EAW77042;EAW77043;EAW77044;NP_065930;Q8IYE0;XP_005250570;XP_005250571 Hs.113940 1691162;1718413;1786356;1851320;1855668;2133708;2134752;2142340;2154119;2159953;2178080;2182954;5014051;5022200;5037552;5093722 A009V32;D7S2907;D8S2278;D8S2279;G32885;L18426;RH122407;RH17500;RH79020;RH99096;SGC34766;SHGC-156234;STS-F04943;STS-R61236;STS-Z36531;WI-21151 KIAA1505 OTTHUMP00000208568;coiled-coil domain-containing protein 146 protein-coding ENSG00000135205 HGNC:29296 11150 VALIDATED 1606406 CCDC150 coiled-coil domain containing 150 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsane; arsenic atom; arsenous acid 2 2 2 q33.1 191260248 191353407 + 197504278 197597530 + 196639632 196732806 + 6480464;8554872 12477932;14702039;24250222 284992 B4DRE1;B4DZ03;B4E060;B8ZZI4;E9PCV3;F8WCU1;Q8NCX0 ABBA01062460;ABBA01062461;AC068544;AK001064;AK096130;AK096979;AK125768;AK299214;AK301665;AK302685;AK303236;AK309349;AL834537;AMYH02005507;AMYH02005508;AMYH02005509;BC062449;BC062658;CH471063;HC006922;NM_001080539;XM_006712438;XM_006712439 AAH62449;AAH62658;AAY14905;BAC04706;BAC04920;BAG61253;BAG63139;BAG63915;BAG64322;CAD39193;CBH19266;EAW70131;NP_001074008;Q8NCX0;XP_006712501;XP_006712502 Hs.132519 1341683;5015881;5020740;5037552;7185494 D2S311;D8S2279;GDB:335751;L17809 DKFZp434P055;FLJ10202;FLJ38811;FLJ39660;MGC72171 OTTHUMP00000205761;coiled-coil domain-containing protein 150 protein-coding ENSG00000144395 HGNC:26834 08264;08537 PROVISIONAL 7241943 CCDC147-AS1 CCDC147 antisense RNA 1 (head to head) 10 10 10 q25.1 99851868 99854088 - 106111059 106113353 - 104351301 104353575 - 11329013;16344560 100505869 ABBA01063087;AI765761;AL162742;AMYH02023736;BG204753;BX093559;DB258473;NR_108036 Hs.338140 ncrna HGNC:45243 VALIDATED 2298815 CCDC152 coiled-coil domain containing 152 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; formaldehyde; indole-3-methanol (ortholog) 5 5 5 p12 42646453 42692073 + 42756920 42802539 + 42756818 42802437 + 6480464;8554872 12477932;15809229 100129792 B4E0P7;Q4G0S7 ABBA01024242;AC008945;AC113368;AK127368;AK303469;AMYH02011229;AY947526;BC015985;BC039102;CH471119;DB450032;DB515085;NM_001134848 AAH39102;AAX21787;BAG54496;BAG64509;EAW56024;EAW56025;NP_001128320;Q4G0S7 Hs.745017 1682870;1764571;1768235;1772844;1856704;2121104;2134582;2134584;2139739;2186663;5092784 A006E08;D5S1857;D5S2379;G09819;G32328;HUM000AA35;HUM00D2F10;RH78323;SHGC-148164;SHGC-14908;STS-Z11793 CH5400 OTTHUMP00000221372;OTTHUMP00000221373;coiled-coil domain-containing protein 152 protein-coding ENSG00000198865 HGNC:34438 VALIDATED 1604184 CCDC153 coiled-coil domain containing 153 INTERACTS WITH potassium dichromate (ortholog); rosiglitazone (ortholog); titanium dioxide (ortholog) 11 11 11 q23.3 116220804 116221252 - 119060963 119072160 - 119190226 119206235 - 6480464 12477932 283152 Q494R4 AA782908;AA909102;ABBA01039677;AMYH02025663;AP002956;BC043548;BC101443;BC101444;BC101986;CH471065;KF510123;NM_001145018;XM_006718816;XM_006718817;XM_006718818;XM_006718819;XM_006718820;XM_006718821;XM_006718822 AAI01444;AAI01445;AAI01987;EAW67475;NP_001138490;Q494R4;XP_006718879;XP_006718880;XP_006718881;XP_006718882;XP_006718883;XP_006718884;XP_006718885 Hs.114777 1682157;1779048 RH48721;RH79602 MGC125447;MGC125448 OTTHUMP00000232150;coiled-coil domain-containing protein 153 protein-coding HGNC:27446 18762 VALIDATED 1604878 CCDC157 coiled-coil domain containing 157 INTERACTS WITH phenobarbital (ortholog); pirinixic acid (ortholog) 22 22 22 q12.2 14552315 14572502 + 30752627 30772818 + 30356638 30377517 + 6480464 12477932;16344560;23870195;24639526 550631 A8MUK5;E7ETG3;E7EWT0;Q569K6 ABBA01055293;AC004997;AMYH02038214;BC018040;BC092419;BC119799;BC127255;CR936833;DA647196;DB636414;NM_001017437;XM_006724278;XM_006724279;XM_006724280 AAH92419;AAI19800;AAI27256;NP_001017437;Q569K6;XP_006724341;XP_006724342;XP_006724343 Hs.505597 5015619;5015861;5015959;5037552;7185938 D10S16;D10S2448;D11S3114;D8S2279 OTTHUMP00000198929;coiled-coil domain-containing protein 157 protein-coding ENSG00000187860 HGNC:33854 18686 VALIDATED 8550341 CCDC150P1 coiled-coil domain containing 150 pseudogene 1 12 12 12 122397222 122398895 - 122806721 122808394 - 122322174 122323847 - 100420678 ABBA01060471;AC048338;AMYH02027419;NG_024048;NG_030352 pseudo HGNC:50280 INFERRED 1602065 CCDC155 coiled-coil domain containing 155 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN chromosome, telomeric region (ortholog); INTERACTS WITH paracetamol; valproic acid (ortholog) 19 19 19 q13.33 46759093 46788876 + 49891475 49921256 + 49388218 49417999 + 6480464;8554872 11441184;12477932;14702039;16189514;16344560;16751776;18029348;22826121;23455924 147872 M0QX09;M0QXT3;M0QXW9;M0QZT9;M0QZW6;M0R1C7;Q8N6L0 ABBA01032930;AC010619;AC010643;AK057220;AK097696;AMYH02036317;BC029811;CH471177;DB024870;DB517121;NM_144688;XM_005258549;XM_006723037 AAH29811;BAB71384;EAW52476;EAW52477;EAW52478;NP_653289;Q8N6L0;XP_005258606;XP_006723100 Hs.662085 1675435;1700992;1783526;5105879 RH104123;RH92075;SHGC-151229;SHGC-152437 DKFZp434A2223;FLJ32658;KASH5 KASH domain-containing protein 5;coiled-coil domain-containing protein 155 protein-coding ENSG00000161609 HGNC:26520 08134 VALIDATED 2299193 CCDC154 coiled-coil domain containing 154 FOUND IN endosome (inferred) 16 16 16 p13.3 1696988 1707090 - 1484389 1494490 - 1434388 1444489 - 12477932;22895184 645811 A6NI56;B7ZBA8;H3BS06 ABBA01030306;AL031600;AL032819;AL137252;AMYH02031230;BC061641;JN935901;NM_001143980 A6NI56;AEW67365;NP_001137452 Hs.355232 1698850;2146001;2146003 A005U10;RH102989;RH12098 C16orf29 OTTHUMP00000205075;coiled-coil domain-containing protein 154 protein-coding ENSG00000197599 HGNC:34454 PROVISIONAL 1602411 CCDC158 coiled-coil domain containing 158 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH indole-3-methanol (ortholog); N-nitrosodiethylamine (ortholog) 4 4 4 q21.1 74534331 74628604 - 77234192 77333285 - 76312211 76421868 - 6480464;8554872 11752456;12477932;16189514;20383146;21282530 339965 Q5M9N0 ABBA01063358;ABBA01063359;ABBA01063360;AC034139;AC096743;AK098600;AK098636;AL832445;AMYH02009512;AMYH02009513;AV658624;BC035224;BC086869;CH471057;NM_001042784;XM_005262974;XM_006714199;XM_006714200;XM_006714201;XM_006714202;XM_006714203;XM_006714204;XM_006714205 AAH86869;AAI56682;BAC05347;BAC05359;EAX05788;EAX05789;EAX05790;EAX05791;EAX05792;NP_001036249;Q5M9N0;XP_005263031;XP_006714262;XP_006714263;XP_006714264;XP_006714265;XP_006714266;XP_006714267;XP_006714268 Hs.529680 1653815;1662243;1698172;1772419;2136200;2171966;2183463;5015619;5022578;5022649;5037552 D11S2875;D11S3114;D1S1423;D4S1198;D4S888;D8S2279;G34360;RH102622;SHGC-50351;SHGC-51009;SHGC-59559 FLJ25770;MGC35086 OTTHUMP00000219171;coiled-coil domain-containing protein 158 protein-coding ENSG00000163749 HGNC:26374 13395 VALIDATED 1603185 CCDC151 coiled-coil domain containing 151 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; disodium selenite 19 19 19 p13.2 11426123 11440715 - 11531272 11546853 - 11420605 11435159 - 6480464 12477932;14702039;16344560;23455924;24067530 115948 A5D8V7;B3KPH7;B4DXT0;K7EN59;K7EPB4;K7EPK8 ABBA01008952;ABBA01029855;ABBA01029856;AC008481;AC024575;AK056363;AK294355;AK302113;AK308072;AMYH02035530;BC014252;BC036041;BC050355;BC141828;BC142637;BC144421;BI548500;CH471106;DB040667;NM_145045 A5D8V7;AAH14252;AAI41829;AAI42638;AAI44422;BAG51689;BAG57620;BAG63492;EAW84213;EAW84214;NP_659482 Hs.124010 1697172 RH102074 FLJ31801;MGC20983 coiled-coil domain-containing protein 151;hypothetical protein mgc20983 protein-coding ENSG00000198003 HGNC:28303 10076 615956;616037 VALIDATED 1344430 CCDC162P coiled-coil domain containing 162, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 6 6 6 q21 110362092 110376014 + 109615506 109629423 + 109294303 109308220 + 6480464 11181995;12477932;14574404;15489334;19862010;20139978;23222517 221262 A2VCL2 ABBA01026128;AL359711;AMYH02014279;AX938506;AX957256;BC107113;BC107114;BC128118;BC128119;CH471051;NR_028595 A2VCL2;AAI07114;AAI28119;CAF04364;CAF05609;EAW48356;EAW48357 Hs.373914;Hs.723571 2145752;2150052 G35691;STS-T97500 C6orf184;C6orf185;CCDC162;MGC129804;MGC149201;bA425D10.3;bA425D10.7 APPROVED pseudo ENSG00000203799 HGNC:21565 PROVISIONAL 1352845 CCDC167 coiled-coil domain containing 167 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-nicotine; 5-aza-2'-deoxycytidine 6 6 6 p21.2 39005680 39022691 - 37450696 37467700 - 37482920 37499924 - 6480464 12477932;16344560;19204726;19734545;21103663;22053931;24250222 154467 Q5T7F6;Q9P0B6 ABBA01038285;AF161383;AL353597;AMYH02013569;AMYH02013570;BC003515;BC104835;BC108655;BE907609;CH471081;DA152306;NM_138493 AAF28943;AAH03515;AAI04836;AAI08656;EAX03947;NP_612502;Q9P0B6 Hs.284207 1755107;2175405;2184874 RH78051;SHGC-142037;SHGC-54168 C6orf129;HSPC265;MGC131656 OTTHUMP00000016329;OTTHUMP00000016330;coiled-coil domain-containing protein 167;transmembrane and coiled-coil domain-containing protein C6orf129 APPROVED protein-coding ENSG00000198937 HGNC:21239 18561 VALIDATED 4109693 CCDC168 coiled-coil domain containing 168 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 13 13 13 q33.1 84226147 84255852 - 103381717 103411422 - 102729367 102759072 - 8554872 11181995;14702039;15057823;21145461;21906983;21963094;22792062 643677 Q8NDH2 ABBA01027070;AK097495;AK125984;AL157769;AL833499;AL833908;AMYH02028626;AMYH02028627;CH471085;NM_001146197 BAC05076;CAD38764;EAX09063;NP_001139669;Q8NDH2 Hs.368382 1710248;1782982;2189967 99-24605;SHGC-81772;SHGC-85214 C13orf40;DKFZp434L2319;DKFZp686P1429;FLJ40176;FLJ43996 coiled-coil domain-containing protein 168;hypothetical protein LOC643677 APPROVED protein-coding ENSG00000175820 HGNC:26851 PROVISIONAL 2302126 CCDC169 coiled-coil domain containing 169 INTERACTS WITH methylmercury chloride; valproic acid 13 13 13 q13.3 17868356 17939180 - 36801179 36871992 - 36227042 36297855 - 6480464 11181995;12477932;14702039 728591 A6NNP5;E9PBZ7 AA861917;ABBA01021361;ABBA01021362;AK023568;AK131058;AK308999;AL139377;AMYH02027865;BC013944;BC037403;BC146975;BC171867;BC171872;BC171874;BC171880;BC171881;BC171882;BC171884;CH471075;DB454585;DN999189;NM_001144981;NM_001144982;NM_001144983;NM_001144984;NM_001144985;NM_001144986;NM_001198908 A6NNP5;AAI46976;AAI71867;AAI71872;AAI71874;AAI71880;AAI71881;AAI71882;AAI71884;EAX08553;EAX08557;NP_001138453;NP_001138454;NP_001138455;NP_001138456;NP_001138457;NP_001138458;NP_001185837 Hs.656745;Hs.730899 2117367 SHGC-56606 C13orf38;FLJ13506;FLJ29024;FLJ57222 OTTHUMP00000018256;OTTHUMP00000018257;OTTHUMP00000221741;OTTHUMP00000221742;OTTHUMP00000221743;OTTHUMP00000221744;OTTHUMP00000221745;OTTHUMP00000221746;RP11-251J8.1;coiled-coil domain-containing protein 169;hypothetical protein LOC728591 APPROVED protein-coding ENSG00000242715 HGNC:34361 VALIDATED 3566767 CCDC159 coiled-coil domain containing 159 INTERACTS WITH (S)-nicotine 19 19 19 p13.2 11352055 11360494 + 11457160 11465620 + 11346484 11354944 + 6480464 11181995;12477932;15057824;15489334;16713569;8889548 126075 K7EJK8;K7EKC7;K7EKR4;K7EKU9;K7EN56;K7ENC2;K7EPH8;P0C7I6 ABBA01029860;AC024575;AK127284;AK293611;AK301653;AK303641;AK316339;AMYH02035526;BC038439;CA848583;CB241007;CH471106;DC416232;NM_001080503;XM_005259734;XM_005259735;XM_005259736;XM_005259737;XM_006722642;XM_006722643;XM_006722644 BAG57074;BAG63130;BAG64645;BAH14710;EAW84198;EAW84199;NP_001073972;P0C7I6;XP_005259791;XP_005259792;XP_005259793;XP_005259794;XP_006722705;XP_006722706;XP_006722707 Hs.631636 5022322;5022578;5024039;5037552;5109281;5124558 D11S2560;D16S325;D1S1423;D1S1425;D8S2279;RH98197 FLJ45351;FLJ79238 coiled-coil domain-containing protein 159;coiled-coil domain-containing-like protein-coding ENSG00000183401 HGNC:26996 VALIDATED 3379453 CCDC160 coiled-coil domain containing 160 INTERACTS WITH all-trans-retinoic acid; pirinixic acid X X X q26.2 133757928 133766658 + 133371077 133380237 + 134237047 134246207 + 6480464 12477932;15772651 347475 A6NGH7 ABBA01042413;ABBA01042414;ABBA01042415;AC004409;AMYH02040525;BC017958;CH471107;KF459428;NM_001101357;XM_005262408;XM_005262409;XM_005262410 A6NGH7;EAX11768;NP_001094827;XP_005262465;XP_005262466;XP_005262467 Hs.679431 UPF0625 coiled-coil domain-containing protein ENSP00000359845;coiled-coil domain-containing protein 160 protein-coding ENSG00000203952 HGNC:37286 PROVISIONAL 3441755 CCDC163P coiled-coil domain containing 163, pseudogene INTERACTS WITH arsenite(3-) (ortholog); benzo[a]pyrene (ortholog); flutamide (ortholog) 1 1 1 p34.1 44242920 44249842 - 45959598 45965751 - 45493926 45500079 - 6480464 12477932;14702039;18672041 126661 B4DV03;E9PLD6;E9PN01;E9PNU9;E9PPK7;F2Z3K3 ABBA01050870;AK054714;AK300867;AL451136;AMYH02000930;BC036618;BC047421;BC101254;BC101255;BC101256;BC101257;BC113060;BC113061;CH471059;NR_033296;NR_033297;NR_033298 BAG62515;EAX06985 Hs.461300 1850935;2153347;5037552 D8S2279;HUM000S162;RH47166 C1orf231 pseudo HGNC:27003 VALIDATED 5134207 CCDC166 coiled-coil domain containing 166 INTERACTS WITH methylphenidate (ortholog); pentachlorophenol (ortholog) 8 8 8 q24.3 141099710 141101175 - 144788864 144790279 - 143706694 143708109 - 6480464 100130274 P0CW27 ABBA01005243;AC105219;AMYH02018947;CH471162;NM_001162914 EAW82208;NP_001156386;P0CW27 Hs.730002 OTTHUMP00000228638;coiled-coil domain containing 121-like;coiled-coil domain-containing protein 166 protein-coding ENSG00000255181 HGNC:41910 VALIDATED 1347710 CCDC175 coiled-coil domain containing 175 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH cadmium atom; potassium dichromate 14 14 14 q23.1 40020875 40092652 - 59971785 60043549 - 59505067 59576831 - 12508121;18029348 122847;729665 P0C221 AB069994;ABBA01018270;ABBA01018271;AL121694;AMYH02029290;NM_001164399 NP_001157871;P0C221 Hs.29706 1648155;1852486 AFM344VD1;G36035 c14_5395 coiled-coil domain-containing protein 175 APPROVED protein-coding ENSG00000151838 HGNC:19847 VALIDATED 1348248 CCDC174 coiled-coil domain containing 174 FOUND IN cytoplasm; nucleus; INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; formaldehyde 3 3 3 p25.1 14631500 14652414 + 14693253 14714166 + 14651746 14672659 + 737633;6480464 12477932 11042152;14702039;15342556;15489334;16189514;20379614;24816145 51244 Q6PII3 ABBA01025154;AC090952;AF151046;AI797763;AK091158;AK309525;AMYH02006322;BC005199;BC013999;BC033897;BF698254;BP195134;CH471055;NM_016474 AAF36132;AAH13999;AAH33897;EAW64203;NP_057558;Q6PII3 Hs.517820 1665426;1688255;1698138;1721575;2127708;2146930;2162814;2168378;5019655;5111218 D3S3898;G32358;G59797;RH102602;RH44671;RH48289;RH67044;SHGC-56876;STS-N41059;WI-11333 C3orf19;FLJ33839 OTTHUMP00000160274;OTTHUMP00000208217;coiled-coil domain-containing protein 174;hypothetical protein LOC51244;uncharacterized protein C3orf19 APPROVED protein-coding ENSG00000154781 HGNC:28033 12820 VALIDATED 1346141 CCDC172 coiled-coil domain containing 172 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH trichostatin A; valproic acid 10 10 10 q25.3 111813149 111868738 + 118083940 118139541 + 116324428 116380029 + 737633;6480464;8554872 12477932 17207965;20379614;23455924 374355 P0C7W6 ABBA01062959;AC011328;AJ457798;AMYH02023869;BC044830;CH471066;NM_198515;XM_006717820 AAH44830;ADQ33001;EAW49454;EAW49455;NP_940917;P0C7W6;XP_006717883 Hs.233407 1678535;1703474 RH67627;SHGC-82584 C10orf96;MGC35062 OTTHUMP00000020562;UPF0628 protein C10orf96;coiled-coil domain-containing protein 172;hypothetical protein LOC374355 APPROVED protein-coding ENSG00000182645 HGNC:30524 18604 VALIDATED 1603565 CCDC17 coiled-coil domain containing 17 INTERACTS WITH aflatoxin B1; amiodarone; atrazine 1 1 1 p34.1 44369706 44373721 - 46085716 46090424 - 45620044 45624765 - 6480464 12477932;14702039;16169070;8889548 149483 F2Z395;F8W7G4;Q96LX7 ABBA01050862;AK057646;AK298104;AK303939;AK310879;AL355480;AMYH02000935;BC029888;BC065201;BC110988;BC128177;BC128178;BU677500;CH471059;DC359257;DC414623;NM_001114938;NM_001190182;XM_005270534;XM_006710388;XM_006710389;XR_426588 AAH29888;AAI28178;AAI28179;BAB71539;BAG60389;BAG64867;EAX06961;EAX06962;EAX06963;NP_001108410;NP_001177111;Q96LX7;XP_005270591;XP_006710451;XP_006710452 Hs.18912 1769591;2138334 SHGC-74701;SHGC-74703 FLJ17921;FLJ33084;RP4-697E16.4 OTTHUMP00000009505;OTTHUMP00000009506;OTTHUMP00000231397;OTTHUMP00000231398;coiled-coil domain-containing protein 17 protein-coding ENSG00000159588 HGNC:26574 08155 VALIDATED 2298833 CCDC173 coiled-coil domain containing 173 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH methyl methanesulfonate; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q31.1 164120771 164169738 - 170501935 170550931 - 169645425 169694421 - 6480464;8554872 12477932;20379614;8889548 129881 B4DX81;C9J9F8;C9JQ25;Q0VFZ6 ABBA01014891;ABBA01014892;AC016772;AK301851;AMYH02005187;AMYH02005188;AMYH02005189;BC015980;BC065905;BC117445;BQ432665;CB250451;CH471058;NM_001085447 AAH15980;AAI17446;BAG63293;EAX11265;NP_001078916;Q0VFZ6 Hs.370111 1675009;2169994 A004Q48;SHGC-31767 C2orf77 OTTHUMP00000205101;coiled-coil domain-containing protein 173;hypothetical protein LOC129881;uncharacterized protein C2orf77 APPROVED protein-coding ENSG00000154479 HGNC:25064 VALIDATED 5013869 CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] 13 13 q 36742345 36871992 - 36168208 36297855 - 6480464 20967262;21963094;22566634 100526761 Q9NX45 ABBA01021361;ABBA01021362;ABBA01021363;AK301863;AL139377;AL160392;AMYH02027865;NM_001198910 BAG63302;NP_001185839 Hs.124519 C13orf38-SOHLH2;FLJ57222;KIAA0369;KIAA0610 C13orf38-SOHLH2 fusion protein;OTTHUMP00000221747;OTTHUMP00000235376 APPROVED protein-coding ENSG00000120669;ENSG00000250709 HGNC:38866 VALIDATED 1322133 CCDC170 coiled-coil domain containing 170 The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010] 6 6 6 q25.1 152549039 152676191 + 151815175 151942328 + 151494030 151621193 + 6480464;8554872 12477932;14574404;14702039;15489334;16344560;18445777;19079262;19801982;20200978;20453838;20661439;21263130;21540461;22145905;22504420;23437003;23535729;24249740;24325915;24430505;8125298;8889548 80129 Q8IYT3 ABBA01025633;ABBA01025634;ABBA01025635;AK026958;AK027300;AK225330;AL359494;AL590543;AMYH02014726;BC035003;BC060803;BI562667;BM677624;BM984518;BQ706948;CB306458;CH471051;DB232703;NG_021198;NM_025059;XM_006715568 AAH60803;BAB15602;BAB55025;EAW47743;NP_079335;Q8IYT3;XP_006715631 Hs.660044 1655320;1658212;1659355;2124421;5015959;5024543 D10S2448;D1S3690;D6S1255;D6S1305;RH35682;RH65963 C6orf97;FLJ23305;bA282P11.1 OTTHUMP00000017435;coiled-coil domain-containing protein 170;coiled-coil domain-containing protein C6orf97;hypothetical protein LOC80129 APPROVED protein-coding ENSG00000120262 HGNC:21177 10797 VALIDATED 1348779 CCDC171 coiled-coil domain containing 171 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH atrazine; melphalan; potassium dichromate 9 9 9 p22.3 15486980 15899187 + 15552872 15971897 + 15552874 15971899 + 737633;6480464;8554872 12477932 14702039;15164053;15489334;20379614;24250222 203238 H0Y5M5;H0Y701;Q6TFL3;Q7Z3F8 ABBA01065262;ABBA01065263;ABBA01065264;ABBA01065265;ABBA01065266;ABBA01065267;ABBA01065268;ABBA01065269;ABBA01065270;ABBA01065271;ABBA01065272;ABBA01065273;ABBA01065274;ABBA01065275;AF440401;AK094506;AK096586;AK128581;AK308284;AL359877;AL513423;AL592153;AL662788;AL832443;AMYH02019212;AMYH02019213;AMYH02019214;AMYH02019215;AMYH02019216;AMYH02019217;AMYH02019218;AMYH02019219;AY422473;BC026063;BC040738;BC064849;BC144214;BC150600;BX537933;CH471071;CR936775;NM_173550;XM_005251397;XM_005251398;XM_005251399 AAH26063;AAH64849;AAI44215;AAI50601;AAM20913;AAR13704;BAC04370;BAC04823;BAC87511;CAD97907;CAH10655;EAW58674;NP_775821;Q6TFL3;XP_005251454;XP_005251455;XP_005251456 Hs.17267 1648200;1652318;1700294;1700720;1723803;1750953;2115017;2125925;2172351 RH103766;RH103985;RH118639;SHGC-104806;SHGC-14223;SHGC-18062;STS-N22831;STS-N25982;WI-16839 C9orf93;DKFZp686P12113;FLJ39267;FLJ46740;MGC50805;bA536D16.1;bA778P13.1 OTTHUMP00000021073;coiled-coil domain-containing protein 171;hypothetical protein LOC203238;myosin tail domain containing protein;uncharacterized protein C9orf93 APPROVED protein-coding HGNC:29828 10805 PROVISIONAL 1354013 CCDC177 coiled-coil domain containing 177 INTERACTS WITH all-trans-retinoic acid; paraoxon; valproic acid 14 14 14 q24.1 50100643 50102030 - 70036531 70041600 - 69569814 69574883 - 6480464 12477932;15489334 56936 Q9NQR7 ABBA01030826;AF284217;AK312175;AL133445;AMYH02029436;BC105025;BC105027;CH471061;NM_001271507 AAF86288;BAG35108;EAW80999;NP_001258436;Q9NQR7 Hs.458319 2220674 UniSTS:490166 C14orf162;PLPL coiled-coil domain-containing protein 177;myelin proteolipid protein-like protein;uncharacterized protein C14orf162 APPROVED protein-coding ENSG00000267909 HGNC:23243 16614 INFERRED 7205404 CCDC179 coiled-coil domain containing 179 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl (ortholog) 11 11 p14.2 22868468 22881972 - 22846922 22860426 - 6480464;8554872 100500938 H3BU77 ABBA01061014;AC006299;AI651461;AMYH02024438;AMYH02024439;NM_001195637 H3BU77;NP_001182566 Hs.555029 coiled-coil domain-containing protein 179;uncharacterized protein LOC100500938 protein-coding ENSG00000255359 HGNC:44653 VALIDATED 1346239 CCDC176 coiled-coil domain containing 176 INVOLVED IN motile cilium assembly (ortholog); ASSOCIATED WITH Methylmalonate Semialdehyde Dehydrogenase Deficiency (inferred); FOUND IN ciliary basal body (ortholog); INTERACTS WITH acetylsalicylic acid; cyclosporin A; methyl methanesulfonate 14 14 14 q24.3 54523011 54569747 + 74486054 74532795 + 74019351 74066092 + 6480464;8554872 12477932;14702039;15489334;17081983;18029348;22990118;24250222 80127 B3KUM1;G3V335;G3V488;Q8ND07 ABBA01030733;ABBA01030734;ABBA01030735;ABBA01030736;AC005484;AK026842;AK097531;AL834487;AMYH02029505;AMYH02029506;AMYH02029507;AMYH02029508;BC044808;BC104979;BC104981;CH471061;DB484577;DB493409;NG_033060;NM_025057;XM_005268092;XM_005268093;XM_005268094;XM_005268095;XM_005268096;XM_005268097;XM_005268098;XR_245725 AAI04980;AAI04982;BAB15572;BAG53483;CAD39145;EAW81157;NP_079333;Q8ND07;XP_005268149;XP_005268150;XP_005268151;XP_005268152;XP_005268153;XP_005268154;XP_005268155 Hs.644621 1336224;1652525;1669587;1675724;1688963;1721531;2110249;2127101;2150696;2185989 ALDH6A1_3184;D14S986;G36322;G59620;RH46132;RH67790;RH69632;RH92479;SHGC-54582;STS-R00273 C14orf45;FLJ23189 OTTHUMP00000202402;basal body-orientation factor 1;coiled-coil domain-containing protein 176;hypothetical protein LOC80127;uncharacterized protein C14orf45 APPROVED protein-coding ENSG00000119636 HGNC:19855 12650 VALIDATED 6766486 CCDC183-AS1 CCDC183 antisense RNA 1 9 9 9 q34.3 110212147 110217068 - 139698379 139703300 - 136803927 136808848 - 11181995;14702039;16344560 100131193 Q96NE7 ABBA01022721;ABBA01022722;AK055547;AL355987;AMYH02021911;CH471090;DA710348;HG502551;NG_031950;NR_024580 BAB70952;EAW88280 Hs.734812 KIAA1984-AS1;RP11-216L13.8 APPROVED ncrna ENSG00000228544 HGNC:44105 VALIDATED 7407969 CCDC182 coiled-coil domain containing 182 INVOLVED IN female gonad development (ortholog) 17 17 55821846 55822713 - 57744481 57745329 - 16625196;22675492 101927581 A6NF36 ABBA01041316;AC005325;AMYH02033676;AX972249;BE504978;CH471109;EG357680;EG357681;NM_001282544 A6NF36;CAF17357;EAW94504;NP_001269473 Hs.540784 coiled-coil domain-containing protein 182;coiled-coil domain-containing protein ENSP00000299415 protein-coding ENSG00000166329 HGNC:49392 VALIDATED 1605794 CCDC184 coiled-coil domain containing 184 FOUND IN cytoplasm; INTERACTS WITH valproic acid 12 12 12 q13.11 47375335 47377425 + 48577366 48579709 + 48183583 48185926 + 6480464 11076863;11256614;12477932;14702039;15489336;16381901;20379614;21145461 387856 Q52MB2 ABBA01031477;AC074029;AK056003;AK056783;AMYH02026419;BC036801;BC049387;CH471111;DB483736;NM_001013635 AAH36801;BAB71071;BAB71283;CAL37738;EAW57977;NP_001013657;Q52MB2 Hs.251699 1849252;2183166 D12S1929;WI-21851 C12orf68 OTTHUMP00000242442;coiled-coil domain-containing protein 184;hypothetical protein LOC387856;uncharacterized protein C12orf68 APPROVED protein-coding ENSG00000177875 HGNC:33749 18375 VALIDATED 1601798 CCDC18 coiled-coil domain containing 18 INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-nitropyrene; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 p22.1 91900087 91998449 + 93646038 93744769 + 93180506 93279211 + 6480464 12477932;12601173;21963094 343099 E9PFB9;H0YCD6;H0YDP2;H7C0C9;J3KP97;Q5T9S2;Q5T9S5;Q6PH87 AA278251;ABBA01045526;AC126124;AK126045;AL139421;AMYH02001494;AMYH02001495;AW444474;AY211914;AY211918;BC056667;BX099893;BX538286;CA428763;CH471097;NM_206886;XM_006710609;XM_006710610;XM_006710611;XM_006710612 AAH56667;AAI52763;AAI56746;AAO65167;AAO65171;BAC86410;CAD98081;EAW73078;EAW73079;EAW73080;NP_996769;Q5T9S5;XP_006710672;XP_006710673;XP_006710674;XP_006710675 Hs.482873;Hs.745125 1337642;1692074;1693254;1714183;1797206 AL033579;AL033677;D1S2779;LOC348363;RH119701 NY-SAR-41;RP4-717I23.1;dJ717I23.1 OTTHUMP00000012325;OTTHUMP00000012326;OTTHUMP00000228706;coiled-coil domain-containing protein 18;sarcoma antigen NY-SAR-24;sarcoma antigen NY-SAR-41 protein-coding ENSG00000122483 HGNC:30370 VALIDATED 1602974 CCDC185 coiled-coil domain containing 185 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q41 196786071 196788168 + 223566715 223568812 + 223393373 223395470 + 8554872 12477932;14702039;15489334;16189514;16710414 164127 Q8N715 ABBA01006372;AK093047;AL590669;AMYH02002756;BC030026;BC031066;CH471100;DB446947;NM_152610 AAH30026;AAH31066;ADZ16013;BAC04033;EAW93256;NP_689823;Q8N715 Hs.192090 C1orf65;FLJ35728;RP11-76K24.1 OTTHUMP00000036091;coiled-coil domain-containing protein 185;hypothetical protein LOC164127;uncharacterized protein C1orf65 APPROVED protein-coding ENSG00000178395 HGNC:26654 08761 VALIDATED 1602471 CCDC181 coiled-coil domain containing 181 FOUND IN nucleus; INTERACTS WITH theophylline; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); nickel dichloride (ortholog) 1 1 1 q24 142473892 142506452 - 169364108 169429907 - 169394870 169460669 - 6480464 12477932;15231748;18029348;19536175;23918943;24250222;8125298 57821 Q5TID7;X6RJ50 ABBA01027952;AK098712;AK223354;AK313598;AL021068;AL049687;AMYH02002112;BC008388;BC008389;BC026073;BC041451;BG206257;CH471067;KF455061;NM_001300968;NM_001300969;NM_021179;XM_005245381;XM_005245382;XM_005245383;XM_005245384 AAH26073;BAD97074;BAG36364;CAB41258;EAW90840;EAW90841;NP_001287897;NP_001287898;NP_067002;Q5TID7;XP_005245438;XP_005245439;XP_005245440;XP_005245441 Hs.567557;Hs.708673 1656813;1677094;1700772;2109087 BLZF1_8827;RH104011;RH65485;RH92136 C1orf114;FLJ25846;RP1-206D15.2 OTTHUMP00000033494;OTTHUMP00000033495;coiled-coil domain-containing protein 181;uncharacterized protein C1orf114 APPROVED protein-coding ENSG00000117477 HGNC:28051 14258 VALIDATED 4110705 CCDC180 coiled-coil domain containing 180 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome 9 9 9 q22.33 70584270 70653930 + 100069910 100139577 + 97307628 97377295 + 8554872 10819331;11181995;12477932;14702039;15164053;15489334;16344560;17924679;17974005;18978678;19056867 100499483 B4DZK1;Q9P1Z9 ABBA01042933;AK123391;AK302965;AL137557;AL512590;AMYH02021306;AMYH02021307;BC047097;CH471105;CR627453;CR749320;DB050504;NM_020893 AAH47097;BAG64113;CAH10534;CAH10701;CAH18175;EAW58840;EAW58841;NP_065944;Q9P1Z9 Hs.435629 1726665;1780008;5014051;5015619;5037552;5112283 D11S3114;D8S2278;D8S2279;G62568;RH103003;SHGC-154259 BDAG1;C9orf174;DKFZp434I2420;DKFZp686B2031;DKFZp686G1725;FLJ41397;FLJ50036;KIAA1529 Behcet's Disease Associated Gene 1;OTTHUMP00000229402;coiled-coil domain-containing protein 180;hypothetical protein LOC100499483;uncharacterized protein C9orf174 APPROVED protein-coding ENSG00000197816 HGNC:29303 VALIDATED 1350546 CCDC183 coiled-coil domain containing 183 INTERACTS WITH copper(2+) sulfate 9 9 9 q34.3 110204424 110215961 + 139690033 139702364 + 136796338 136807741 + 737633;6480464 12477932 11853319;14702039;16344560;16582619;21048031;24250222 84960 G5E9W6;Q5T5S1;Q96IG8 ABBA01022721;AK090683;AK092639;AL355987;AMYH02021911;AW572474;BC064582;BC137317;BC137318;BF979345;DA235138;DB446839;NM_001039374 AAH64582;AAI37318;AAI37319;BAC03504;BAC03931;NP_001034463;Q5T5S1 Hs.728796 KIAA1984;MGC15438;PARF;RP11-216L13.7;RP11-216L13.9;bA216L13.7 OTTHUMP00000215032;OTTHUMP00000215033;coiled-coil domain-containing protein 183;hypothetical protein LOC84960;uncharacterized coiled-coil domain-containing protein KIAA1984 APPROVED protein-coding ENSG00000213213 HGNC:28236 17234 615955 VALIDATED 1352329 CCDC22 coiled-coil domain containing 22 This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013] X X X p11.23 52557382 52572443 - 49091927 49106987 + 49235467 49250526 + 737633;6480464;8554872 12477932 12522145;15489334;17478047;18029348;19204726;20237496;20398921;21139048;21826058;21890473;21906983;21988832;22070227;22505724;22797925;23563313;24916641;8889548 28952 O60826 ABBA01046141;ABBA01046142;AC232271;AF235097;AJ005890;AK291976;AK296911;AK298264;AK316375;AMYH02039324;BC000972;BC011675;BG912845;BM146102;CH471224;DC340647;NG_021311;NM_014008;XM_005272599;XR_430506 AAH00972;AAH11675;ABM85096;ABW03374;BAF84665;BAG59466;BAG60528;BAH14746;CAA06747;EAW50674;EAW50675;EAW50676;NP_054727;O60826;XP_005272656 Hs.26333 1339854;1678085;1754167;2162098;7186118 DXS1208;DXS9795;RH99318;SHGC-132193 CXorf37;JM1 OTTHUMP00000025839;chromosome x open reading frame 37;coiled-coil domain-containing protein 22 APPROVED protein-coding ENSG00000101997 HGNC:28909 06594 300859 REVIEWED 1605525 CCDC23 coiled-coil domain containing 23 INVOLVED IN negative regulation of endothelial cell migration; negative regulation of protein ubiquitination; protein secretion; FOUND IN apical part of cell; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; coumestrol 1 1 1 p34.2 41554652 41565039 - 43272723 43283059 - 42807052 42817388 - 6480464 12477932;15489334;16710414;20736312;22614011;24250222;24816145;8889548 374969 Q8N300 ABBA01050971;ABBA01050972;ABBA01050973;AC098484;AK291356;AL512353;AMYH02000885;AMYH02000886;BC029427;BM675639;BQ712089;CH471059;NM_199342 AAH29427;BAF84045;EAX07134;EAX07135;NP_955374;Q8N300 Hs.113919 1688030;2174740;2176307;5092690 A005Q11;G32266;RH98844;SHGC-74676 OTTHUMP00000008831;coiled-coil domain-containing protein 23 protein-coding ENSG00000177868 HGNC:29204 14191 VALIDATED 1317773 CCDC178 coiled-coil domain containing 178 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; cyclosporin A; indole-3-methanol (ortholog) 18 18 18 q12.1 27325560 27828679 - 30517225 31020685 - 32937402 33440721 - 737633;6480464;8554872 12477932 14702039;15489334;17081983;20379614;22219177;23934736 374864 A1L4G8;F8W7A7;J3KRT5;J3KSU3;J3QKU2;J3QRM8;Q5BJE1 ABBA01022470;ABBA01022471;ABBA01022472;ABBA01022473;ABBA01022474;ABBA01022475;ABBA01022476;ABBA01022477;AC025888;AC090371;AC100845;AC104956;AC116607;AK000027;AK126038;AK129955;AMYH02034531;AMYH02034532;AMYH02034533;AMYH02034534;AMYH02034535;AMYH02034536;AMYH02034537;BC062719;BC091517;BC130535;BC144178;BC144179;CH471088;KF456365;NM_001105528;NM_198995 AAH62719;AAH91517;AAI30536;AAI44179;ADR83389;BAC85257;BAC86407;EAX01301;NP_001098998;NP_945346;Q5BJE1 Hs.115461 1673970;1682956;1708674;1718301;1720663;1731713;1752023;1755431;1776918;2127197;5094124 AFM164ya9;AFM234VC11;D18S519;D18S987;G54559;G59142;RH122922;RH92259;SHGC-105995;SHGC-142305;SHGC-81478 C18orf34;FLJ44050;MGC111498;MGC163407 OTTHUMP00000163120;OTTHUMP00000163121;coiled-coil domain-containing protein 178;hypothetical protein LOC374864;uncharacterized protein C18orf34 APPROVED protein-coding ENSG00000166960 HGNC:29588 12691 VALIDATED 1316183 CCDC186 coiled-coil domain containing 186 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-fluorouracil; all-trans-retinoic acid; copper(2+) sulfate 10 10 10 q25.3 109611151 109663535 - 115880615 115934364 - 114120856 114174605 - 737633;1299549;6480464;8554872 12477932;12783626 11076863;11230166;14702039;14996095;15489334;15489336;16381901;20936779;21139048;21900206;21906983;23824909;24816145 55088 H0Y7V5;Q7Z3E2 ABBA01062982;AC022023;AF273054;AI143965;AK001050;AK024739;AK057508;AK092620;AK094498;AK307517;AL834368;AMYH02023848;BC020842;BC022229;BC030557;BC070368;BC100670;BC103499;BC103504;BC105632;BC107430;BC152306;BK001329;BX537964;BX643041;NM_018017;XM_005269937 AAH20842;AAH22229;AAH70368;AAI00671;AAI03500;AAI05633;AAI07431;AAI52307;AAM44457;BAA91480;BAC03926;BAG51924;CAD39031;CAD97928;CAL37501;DAA01463;NP_060487;Q7Z3E2;XP_005269994 Hs.159066;Hs.603328 C10orf118;FLJ10188;FLJ35301;MGC118918;MGC129699 CTCL tumor antigen HD-CL-01/L14-2;CTCL tumor antigen L14-2;OTTHUMP00000020520;OTTHUMP00000020523;coiled-coil domain-containing protein 186;uncharacterized protein C10orf118 APPROVED protein-coding ENSG00000165813 HGNC:24349 16576 VALIDATED 1351078 CCDC28A coiled-coil domain containing 28A This gene is located in a region close to the locus of the pseudogene of chemokine (C-C motif) receptor-like 1 on chromosome 6. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 6 6 6 q23.1-q24.1 139834761 139854557 + 139094657 139114456 + 138773520 138793319 + 6480464;8554872 12477932;14574404;15489334;16028218;19322201;21139048;22058212;23602568 25901 Q8IWP9 ABBA01025806;AJ420568;AK300672;AL050197;AL121834;AMYH02014585;AY167571;BC000758;BC004464;BC013019;BC080566;BC108717;CH471051;NM_015439 AAH04464;AAH13019;AAH80566;AAI08718;AAN87344;BAG62357;CAB43315;EAW47910;EAW47911;NP_056254;Q8IWP9 Hs.412019 1658308;1665293;2124793 RH46863;SHGC-31193;STS-N33316 C6orf80;CCRL1AP;DKFZp586D0623;MGC131913 OTTHUMP00000017302;chemokine C-C motif receptor-like 1 adjacent;coiled-coil domain-containing protein 28A APPROVED protein-coding ENSG00000024862 HGNC:21098 09857 615353 VALIDATED 1603566 CCDC24 coiled-coil domain containing 24 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH calcitriol; testosterone; tunicamycin 1 1 1 p34.1 42740817 42745738 + 44457280 44462200 + 43991608 43996528 + 6480464;8554872 12477932;14702039;15489334;16710414;17043677;17207965 149473 Q6MZH0;Q8N4L8;V9GY72;V9GYB9;V9GYE2;V9GYM6 ABBA01050934;AK092569;AL139220;AMYH02000912;AY487420;BC033868;BC047313;BX641142;CH471059;NM_152499;XM_005270524 AAH33868;AAH47313;AAR39430;ADQ31638;CAE46063;EAX07058;EAX07059;EAX07060;EAX07061;NP_689712;Q8N4L8;XP_005270581 Hs.632394 1662251;1669277;2191321;2218288 B4GALT2_4418;MARC_17364-17365:1033586704:3;RH78692;SHGC-74711 MGC45441;RP5-1198O20.2 OTTHUMP00000010013;coiled-coil domain-containing protein 24 protein-coding ENSG00000159214 HGNC:28688 14636 PROVISIONAL 1602432 CCDC27 coiled-coil domain containing 27 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog); aflatoxin B1 (ortholog) 1 1 1 p36.32 2923006 2942247 + 3668965 3688209 + 3752401 3771645 + 6480464;8554872 12477932;14702039;15489334;16344560;16710414;18597038;20379614;22589738;23251661;23720494 148870 J3QKX2;Q2M243 ABBA01073653;AK057387;AL136528;AL365330;AMYH02000138;BC112108;BC112112;CH471130;DB048639;NM_152492 AAI12109;AAI12113;BAB71462;EAW71476;EAW71477;NP_689705;Q2M243 Hs.348700 1692012;1700780;1733056 AL033657;D1S1403;RH104015 FLJ32825;MGC138313;MGC138317;RP1-286D6.1 OTTHUMP00000003588;coiled-coil domain-containing protein 27 protein-coding ENSG00000162592 HGNC:26546 08141 VALIDATED 1603961 CCDC28B coiled-coil domain containing 28B The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 p36.11-p34.2 30936104 30940893 + 32666202 32670991 + 32200386 32205390 + 6480464;7240710 12477932;14702039;15489334;16327777;16344560;16710414;17207965;19402160;20301537;21832049;23015189;23727834;24250222;8125298;8889548 79140 E9PM03;E9PM81;Q9BUN5 ABBA01023437;AK092702;AK225113;AK291904;AL049795;AMYH02000705;BC002462;BC022848;BM981930;CH471059;DA899719;NG_012178;NM_001301011;NM_024296;XM_006710892;XM_006710893 AAH22848;ADQ32629;BAF84593;EAX07563;EAX07564;NP_001287940;NP_077272;Q9BUN5;XP_006710955;XP_006710956 Hs.534482 MGC1203;MGC16441;RP4-622L5.5 OTTHUMP00000006371;OTTHUMP00000006372;coiled-coil domain-containing protein 28B APPROVED protein-coding ENSG00000160050 HGNC:28163 14422 209900;610162 REVIEWED 1602211 CCDC33 coiled-coil domain containing 33 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH atrazine; C60 fullerene (ortholog); N-nitrosodiethylamine (ortholog) 15 15 15 q24.1 51477090 51577123 + 74528630 74628813 + 74217222 74336578 + 6480464;8554872 12477932;14702039;15342556;16189514;16344560;16713569;19240061;19447967;20068295;20379614;21832049;23088713;23251661;23443559;24722188 80125 H0YMB8;Q8N5R6 ABBA01060486;AC023300;AC090826;AI223423;AK026821;AK057417;AK290709;AK310852;AMYH02030789;BC009178;BC025689;BC031684;BP292996;CH471136;DB049940;DB070410;DB078117;NM_001287181;NM_025055;NM_182791;NR_108023;XM_005254692;XM_006720697;XM_006720698 AAH31684;BAB15564;BAF83398;BAG51911;EAW99343;EAW99344;EAW99345;EAW99346;EAW99347;NP_001274110;NP_079331;NP_877592;Q8N5R6;XP_005254749;XP_006720760;XP_006720761 Hs.383206;Hs.621342 1338877;1342213;1722933;1763931 D15S1001;D15S991;G60564;SHGC-147595 CT61;FLJ23168;FLJ32855;MGC34145 cancer/testis antigen 61;coiled-coil domain-containing protein 33 protein-coding ENSG00000140481 HGNC:26552 09959 VALIDATED 1605539 CCDC36 coiled-coil domain containing 36 INTERACTS WITH silicon dioxide 3 3 3 p21.31 49193717 49258916 + 49235861 49295636 + 49198428 49258201 + 6480464 12477932;24722188 339834 B4DZP6;Q8IYA8 AA858032;ABBA01024602;ABBA01024603;ABBA01024604;ABBA01024605;AC121247;AC135506;AK058049;AK303033;AMYH02006746;AMYH02006747;AMYH02006748;BC015057;BC036202;CH471055;KF457636;NM_001135197;NM_178173;XM_005265099;XM_005265100;XM_006713124 AAH36202;ADZ16026;BAB71640;BAG64158;EAW64965;EAW64966;NP_001128669;NP_835467;Q8IYA8;XP_005265156;XP_005265157;XP_006713187 Hs.631931 1660641;1701436;5014051;5022578 D1S1423;D3S4019;D8S2278;RH104350 CT74;FLJ25320 OTTHUMP00000208932;OTTHUMP00000208933;cancer/testis antigen 74;coiled-coil domain-containing protein 36 protein-coding ENSG00000173421 HGNC:27945 14172 VALIDATED 6484038 CCDC34P1 coiled-coil domain containing 34 pseudogene 1 4 4 4 q25 110282589 110283111 + 112989162 112989684 + 112068006 112068528 + 100288584 ABBA01063812;AC093663;AMYH02009931;NG_022070 pseudo HGNC:44008 INFERRED 1605139 CCDC30 coiled-coil domain containing 30 FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; hydrogen peroxide; theophylline 1 1 1 p34.2 41282491 41402263 + 43000560 43120335 + 42534889 42654664 + 6480464 16710767 728621 B4DXQ2;D6RB86;D6RFH8;Q5VVM6 ABBA01023129;ABBA01023130;ABBA01023131;AC098484;AK024625;AK302075;AL138788;AL445669;AL832217;AMYH02000879;AMYH02000880;AMYH02000881;AY639646;BX640642;DC397297;NM_001080850 AAX19141;BAB14936;BAG63464;CAE45789;NP_001074319;Q5VVM6 Hs.729640 1335597;1341823;1668273;1701182;2160386;2167874;5014051;5015961;5020885;5021872;5022322;5022651;5024413;5037552;5109281;7187431 AL009878;D11S2560;D11S2921;D15S1477;D1S1425;D1S1702;D1S193;D1S2861;D8S2278;D8S2279;L17791;L17877;RH104219;WI-15744;sY3084 FLJ20972;PFD6L;PFDN6L OTTHUMP00000008584;OTTHUMP00000222509;coiled-coil domain-containing protein 30;prefoldin 6-like;prefoldin subunit 6-like protein protein-coding ENSG00000186409 HGNC:26103 08632 VALIDATED 1605370 CCDC25 coiled-coil domain containing 25 FOUND IN extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; cadmium dichloride; cobalt dichloride 8 8 8 p21.1 26550714 26590067 - 27590833 27630170 - 27733316 27772653 - 6480464 12477932;14702039;15345747;15489334;16344560;17081983;19322201;20379614;22379092;24816145 55246 B7Z2L8;E5RI21;G3V121;Q0VGD4;Q86WR0 ABBA01005592;ABBA01005593;AC013643;AC104997;AK001715;AK027900;AK292875;AK294848;AK311437;AK316015;AMYH02017675;AX877371;BC006239;BC032588;BC049197;BC054039;BC065295;BC110391;CH471080;DA218015;NM_018246;XM_005273563 AAH06239;AAH32588;AAH49197;AAH54039;AAH65295;AAI10392;BAA91857;BAB55442;BAF85564;BAH11904;BAH14386;CAE89696;EAW63539;EAW63540;EAW63541;EAW63542;EAW63543;NP_060716;Q86WR0;XP_005273620 Hs.445512 1653825;1679603;2120040;2172210 A005K31;RH48464;RH66509;WI-12131 FLJ10853 OTTHUMP00000163035;OTTHUMP00000225312;OTTHUMP00000225313;OTTHUMP00000225315;coiled-coil domain-containing protein 25 protein-coding ENSG00000147419 HGNC:25591 07705 VALIDATED 6481202 CCDC39-AS1 CCDC39 antisense RNA 1 100874112 AC068298 APPROVED ncrna HGNC:41089 1605540 CCDC39 coiled-coil domain containing 39 The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011] 3 3 3 q26.33 178763919 178829392 - 180331360 180397300 - 180614008 180679495 - 6480464;8699517;7240710;8554872 11256614;11329013;12477932;20301301;20379614;21131972;21145461;22693285;23255504;24515614 339829 C9IZC4;F8WBW2;H7C4X6;H7C5I6;Q9UFE4 ABBA01058515;AC068298;AK304270;AL122120;AMYH02008237;AMYH02008238;BG205877;DC399927;NG_029581;NM_181426 BAG65133;CAB59277;NP_852091;Q9UFE4 Hs.712820 1645368;1855293 RH66248;WI-11544 CILD14;DKFZp434A128;FAP59 OTTHUMP00000212526;OTTHUMP00000212527;coiled-coil domain-containing protein 39 APPROVED protein-coding ENSG00000145075 HGNC:25244 613798;613807 REVIEWED 1603366 CCDC38 coiled-coil domain containing 38 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH fonofos; hydrogen peroxide; parathion 12 12 12 q23.1 95929959 96005323 - 96260826 96336428 - 95867048 95942650 - 6480464;8554872 12477932;14702039;15489334;20379614;21946350;23284291 120935 F8VRK3;F8VTU7;F8VY05;H0YHI1;Q502W7 ABBA01053320;ABBA01053321;AC090001;AC126174;AK097408;AMYH02026990;AMYH02026991;BC047659;BC095479;CH471054;NM_182496;XM_006719229;XM_006719230;XR_429080 AAH95479;BAC05038;EAW97550;EAW97551;NP_872302;Q502W7;XP_006719292;XP_006719293 Hs.210377 1676236 RH93038 FLJ40089 OTTHUMP00000243555;coiled-coil domain-containing protein 38 protein-coding ENSG00000165972 HGNC:26843 08268 VALIDATED 1606993 CCDC34 coiled-coil domain containing 34 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; aflatoxin B1 11 11 11 p14.1 27504487 27530149 - 27360061 27384795 - 27338514 27363248 - 6480464 10508479;11173847;12477932;15334068;17207965 91057 Q96HJ3 ABBA01060973;ABBA01060974;AC090597;AF155108;AF301222;AF382034;AK308494;AK313358;AL555720;AMYH02024500;AMYH02024501;AY598334;BC008496;BC029421;BU595712;CH471064;NM_030771;NM_080654 AAD42874;AAG39935;AAH08496;AAO13807;AAT06745;ADQ31630;BAG36159;EAW68287;EAW68288;EAW68289;NP_110398;NP_542385;Q96HJ3 Hs.143733 1668956;1675710 RH47720;RH92404 L15;NY-REN-41;RAMA3 NY-REN-41 antigen;OTTHUMP00000232172;OTTHUMP00000232173;coiled-coil domain-containing protein 34;renal carcinoma antigen NY-REN-41 protein-coding ENSG00000109881 HGNC:25079 14868 612324 VALIDATED 1601721 CCDC42 coiled-coil domain containing 42 INTERACTS WITH benzo[a]pyrene (ortholog) 17 17 17 p13.1 8664029 8678936 - 8633246 8648154 - 8729928 8746002 - 6480464 12477932;14702039;15489334;15489335;16189514;21139048;24657165 146849 J3KSK0;Q96M95 ABBA01054922;ABBA01054923;AC009451;AC011061;AI204372;AK057296;AMYH02032933;BC029224;CH471108;CV030241;NM_001158261;NM_144681;XM_006721459 AAH29224;BAB71414;EAW90043;EAW90044;EAW90045;NP_001151733;NP_653282;Q96M95;XP_006721522 Hs.121438 1760091 SHGC-106931 CCDC42A;FLJ32734 coiled-coil domain-containing protein 42A protein-coding ENSG00000161973 HGNC:26528 08731 VALIDATED 1351886 CCDC3 coiled-coil domain containing 3 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid 10 10 10 p13 12864409 12969462 - 12938625 13141762 - 12896625 13099773 - 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16344560;16381901;20526338;20881960 83643 Q9BQI4 ABBA01034634;ABBA01034635;AF190154;AK024578;AK095792;AK123393;AK124195;AK311458;AL136562;AL353586;AL355355;AL596124;AMYH02022161;AMYH02022162;AMYH02022163;AMYH02022164;AMYH02022165;AMYH02022166;AMYH02022167;BC051334;CH471072;DA531253;DN996248;NM_001282658;NM_031455 AAH51334;AAQ13698;BAG53129;CAB66497;CAL38166;EAW86311;NP_001269587;NP_113643;Q9BQI4 Hs.498720;Hs.738531 1655406;1774966;2121203;2129721;2150641;2158668;2164947;2181603 G17404;RH44318;RH44500;RH44748;RH70051;STS-W81358;WI-13753;WI-20155 DKFZp761F241;FLJ20925;RP11-347I22.1 OTTHUMP00000019122;coiled-coil domain-containing protein 3;fat/vessel-derived secretory protein;favine protein-coding ENSG00000151468 HGNC:23813 13008 VALIDATED 1602811 CCDC37 coiled-coil domain containing 37 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; 2,2',5,5'-tetrachlorobiphenyl (ortholog); titanium dioxide (ortholog) 3 3 3 q21.3 124538607 124580221 + 126113751 126155399 + 126394908 126436556 + 6480464;8554872 12477932;14702039;15489334;22011669;23455924;23569216 348807 E9PQV5;Q494V2 ABBA01016392;ABBA01016393;AC063919;AC073439;AK097402;AMYH02007584;AMYH02007585;BC101366;BC101367;BC101368;BC101369;CH471052;NM_182628;XM_005247431;XM_006713617;XM_006713618;XM_006713619;XM_006713620;XM_006713621;XM_006713622;XM_006713623;XR_241488 AAI01367;AAI01368;AAI01369;AAI01370;BAC05035;EAW79363;EAW79364;NP_872434;Q494V2;XP_005247488;XP_006713680;XP_006713681;XP_006713682;XP_006713683;XP_006713684;XP_006713685;XP_006713686 Hs.591305 1689518;1784810 RH92086;SHGC-155269 FLJ40083;MGC120558;MIA1 OTTHUMP00000222548;OTTHUMP00000222567;coiled-coil domain-containing protein 37 protein-coding ENSG00000163885 HGNC:26842 08805 VALIDATED 2311614 CCDC42B coiled-coil domain containing 42B ASSOCIATED WITH Melanoma (inferred) 12 12 12 q24.13 113214654 113224070 + 113587543 113597081 + 113149738 113159276 + 8554872 16541075;23569216 387885 A6NFT4;H0YHK5 ABBA01019947;ABBA01019948;ABBA01019949;AC089999;AMYH02027233;NM_001144872;XM_005253879 A6NFT4;NP_001138344;XP_005253936 Hs.486856 1736220 D12S1164E MIA2 OTTHUMP00000241813;coiled-coil domain-containing protein 42B protein-coding ENSG00000186710 HGNC:37100 PROVISIONAL 1603982 CCDC47 coiled-coil domain containing 47 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN osteoblast differentiation; FOUND IN membrane; INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; cobalt dichloride 17 17 17 q23.3 56210730 56239209 - 61822610 61851088 - 63745250 63773728 - 6480464 12477932;14702039;15489334;16169070;16210410;16303743;16344560;17353931;20562859;21139048;21145461;21343306;21890473;21903422;21906983;22190034;22412018;22990118;23000965;24250222;24816145;8125298 57003 J3KRX4;Q96A33 ABBA01035321;ABBA01035322;AC015651;AF113221;AF226054;AK027786;AK027844;AK075387;AK225813;AK314328;AMYH02033778;AMYH02033779;AX136149;AX878352;BC001300;BC008905;BC013600;CH471109;CS051185;DB222124;NM_020198;XM_005257527 AAF86954;AAG39292;AAH08905;AAH13600;ABM87572;BAB55367;BAB55407;BAC11587;BAG36975;CAC39717;CAE90113;CAI72088;EAW94279;EAW94280;EAW94281;EAW94282;NP_064583;Q96A33;XP_005257584 Hs.202011 1648264;1657050;1676672;1699358;1734476;1739153;2172238 D17S1437E;D17S1628;RH103266;RH45286;RH47195;RH80257;SHGC-11242 GK001;MSTP041 coiled-coil domain-containing protein 47 protein-coding ENSG00000108588 HGNC:24856 17041 VALIDATED 8157873 CCDC37-AS1 CCDC37 antisense RNA 1 (head to head) 3 3 3 124507524 124537310 - 126111875 126113641 - 126393032 126394798 - 12477932 100506907 ABBA01016393;AC063919;AMYH02007584;AW241753;BC033989;BI827527;BX109262;HG496029;HG496030;HY225164;NR_103787;NR_103788;NR_103789 Hs.369473 RP11-71E19.5 ncrna ENSG00000249833 HGNC:49641 VALIDATED 1606980 CCDC43 coiled-coil domain containing 43 INTERACTS WITH methyl methanesulfonate; valproic acid; 17alpha-ethynylestradiol (ortholog) 17 17 17 q21.31 39465309 39477668 - 42754805 42767355 - 44677437 44689797 - 6480464 12477932;14702039;17207965;21044950;21139048;21890473;22944692;23000965;23443559;24250222;24816145 124808 K7ER24;Q86WV7;Q96MW1 ABBA01028356;AC091152;AI073854;AK056357;AK098464;AL833590;AMYH02033493;BC023298;BC047776;BG706097;BX648868;CH471178;NM_001099225;NM_144609 AAH47776;ADQ33069;BAB71162;EAW51588;EAW51589;NP_001092695;NP_653210;Q96MW1 Hs.579115 1673368 RH15900 FLJ31795 coiled-coil domain-containing protein 43 protein-coding ENSG00000180329 HGNC:26472 08107 VALIDATED 1606758 CCDC54 coiled-coil domain containing 54 3 3 3 q13.12 105492535 105493828 + 107096188 107097481 + 107377341 107378634 + 12477932;15257753;16138340 84692 Q8NEL0 ABBA01061712;AC063944;AF367469;AK058091;AMYH02007383;BC030780;CH471052;HC007188;NM_032600 AAH30780;AAK53405;ABM81755;ABM81756;ABM84911;BAB71661;CBH19399;EAW79746;NP_115989;Q8NEL0 Hs.164799 1720133;2219218 NYD-SP17__6095;RH123844 FLJ25362;NYD-SP17;SP17 OTTHUMP00000214257;coiled-coil domain-containing protein 54;sperm protein 17;testes development-related NYD-SP17;testis development protein NYD-SP17 protein-coding ENSG00000138483 HGNC:30703 14860 PROVISIONAL 1606297 CCDC53 coiled-coil domain containing 53 FOUND IN actin cytoskeleton; intracellular membrane-bounded organelle; WASH complex; INTERACTS WITH 2-methylcholine; aflatoxin B1; benzo[a]pyrene 12 12 12 q23.2 102070738 102119920 - 102406717 102455902 - 102012939 102062124 - 6480464 10810093;10931946;12477932;15489334;16169070;16189514;17207965;19060904;19922875;20498093;21988832;22082156;22939629;8125298 51019 F5GWI9;F5GXZ4;F5GXZ7;F5GZ97;F5H0A7;F5H2P1;H0YGN0;Q9Y3C0 ABBA01053232;AC079907;AF151874;AF155655;AI739611;AK223339;AK314970;AMYH02027077;AMYH02027078;BC010889;BX356987;CH471054;CR457171;DB452335;FJ695207;KF455703;NM_001301107;NM_016053;XM_005268939;XM_005268940 AAD34111;AAF67012;AAH10889;ADQ33161;BAD97059;BAG37471;CAG33452;EAW97687;NP_001288036;NP_057137;Q9Y3C0;XP_005268996;XP_005268997 Hs.405692 CGI-116 OTTHUMP00000238240;OTTHUMP00000238242;OTTHUMP00000238243;OTTHUMP00000238244;WASH complex subunit CCDC53;coiled-coil domain-containing protein 53 protein-coding ENSG00000120860 HGNC:24256 13031 VALIDATED 1602866 CCDC51 coiled-coil domain containing 51 FOUND IN mitochondrion; nucleus; INTERACTS WITH (S)-colchicine; adenine; benzo[a]pyrene 3 3 3 p21.31 48424351 48432300 - 48473580 48481529 - 48432170 48440119 - 6480464 12477932;14702039;15146197;15342556;17110338;17207965;18029348;18854154;20877624;21906983;21963094 79714 C9JPZ8;C9JSW8;Q96ER9 AA749172;ABBA01024651;AC104448;AC134772;AK022498;AL533758;AMYH02006717;AW957929;BC004341;BC011993;BG336520;BI755881;BM810621;BP307614;BQ050243;BQ427785;CH471055;CN259750;NM_001256964;NM_001256965;NM_001256966;NM_001256967;NM_001256968;NM_001256969;NM_024661 AAH11993;ADQ32699;BAB14060;EAW64867;EAW64868;EAW64869;EAW64870;EAW64871;EAW64872;NP_001243893;NP_001243894;NP_001243895;NP_001243896;NP_001243897;NP_001243898;NP_078937;Q96ER9 Hs.187657;Hs.740720 1687391;1688279;1778182 RH92047;RH98863;STS-AA116092 FLJ12436 OTTHUMP00000210092;OTTHUMP00000210093;coiled-coil domain-containing protein 51 protein-coding ENSG00000164051 HGNC:25714 08571 VALIDATED 2303339 CCDC58P1 coiled-coil domain containing 58 pseudogene 1 18 18 p11.22 10623613 10624306 - 10623616 10624309 - 645859 ABBA01001270;AMYH02034297;AP001180;NG_009486 pseudo HGNC:32457 INFERRED 1606954 CCDC50 coiled-coil domain containing 50 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 3 3 3 q28 189475666 189545223 + 191046874 191116459 + 191329085 191398670 + 6480464;7240710;8699517;8554872 12477932;12483295;14527723;14702039;15314609;15489334;15951569;16169070;16803894;17081983;17207965;17503326;18029035;18029348;18781797;19059208;19285159;19641524;20301607;20654576;20972266;21139048;21890473;21906983;21963094;21987572;22053931;22331027;23000965;23562540;24130170;24654937;25015289 152137 Q8IVM0 ABBA01058317;AC068645;AC073365;AJ416916;AJ557013;AK055652;AK092045;AK093660;AL512753;AMYH02008417;AMYH02008418;BC065004;CH471052;NG_008994;NM_174908;NM_178335 AAH65004;ADQ32531;CAC95196;CAD89526;EAW78089;EAW78090;NP_777568;NP_848018;Q8IVM0 Hs.478682 1336678;1340974;1644251;1648202;1651554;1653845;1657789;1689276;1692126;2115204;2146899;2156520;2165459;2165461;5037552;7187068 A001T04;AL033702;Cda0ce01;D3S1314;D3S2418;D3S3321;D3S4224;D8S2279;G19613;RH45920;RH92964;SHGC-32957;SHGC-77656;SHGC-77660;STS-N26778 C3orf6;DFNA44;YMER OTTHUMP00000209328;OTTHUMP00000209329;coiled-coil domain-containing protein 50 APPROVED protein-coding ENSG00000152492 HGNC:18111 06463 607453;611051 REVIEWED 7206859 CCDC58P2 coiled-coil domain containing 58 pseudogene 2 10 10 q11.23 52722504 52723190 - 50962744 50963430 - 100287708 ABBA01052493;AL731537;AMYH02023059;NG_029973 pseudo HGNC:45025 VALIDATED 1604240 CCDC58 coiled-coil domain containing 58 FOUND IN mitochondrion (inferred); INTERACTS WITH 2-methylcholine; coumestrol; formaldehyde 3 3 3 q21.1 120488064 120511702 - 122078436 122102074 - 122359589 122383227 - 6480464 12477932;15489334;19322201;20558539;20705733;20877624;21139048;21890473;21906983;23000965;24816145 131076 C9JBU9;C9JQ41;H7C525;Q4VC31 ABBA01016470;AC083798;AMYH02007537;BC054051;BC062725;BC109378;CH471052;NM_001017928;XM_005247108 AAH62725;AAI09379;EAW79487;EAW79488;NP_001017928;Q4VC31;XP_005247165 Hs.220594 FLJ33273 OTTHUMP00000215572;OTTHUMP00000215574;OTTHUMP00000215575;coiled-coil domain-containing protein 58 protein-coding ENSG00000160124 HGNC:31136 18548 VALIDATED 1605992 CCDC40 coiled-coil domain containing 40 This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 17 17 17 q25.3 74636488 74703213 + 78010431 78074412 + 80036632 80100613 + 6480464;8699517;7240710;8554872 10997877;12477932;14702039;16344560;20301301;20714864;21131974;21832049;22693285;23255504;23382691 55036 I3L292;I3L2X6;I3L3G6;I3L477;J3QSY2;Q4G0X9 AB046860;ABBA01015411;ABBA01015412;ABBA01015413;ABBA01015414;AC087741;AC116025;AI393590;AK000760;AK056583;AK130684;AL713758;AMYH02034096;AMYH02034097;AMYH02034098;AMYH02034099;AW300891;AX405988;BC035251;BC058288;BQ009577;CH471099;DA842356;DB230102;DB236682;NG_029761;NM_001243342;NM_017950;XM_005257491;XM_005257492 AAH35251;AAH58288;BAA91365;BAB13466;CAD35095;EAW89578;EAW89579;NP_001230271;NP_060420;Q4G0X9;XP_005257548;XP_005257549 Hs.202542 1675606;1682884;1693794;5022651 D11S2921;RH92754;RH98689;SHGC-58932 CILD15;FAP172;FLJ20753;FLJ32021;KIAA1640 OTTHUMP00000163559;coiled-coil domain-containing protein 40 APPROVED protein-coding ENSG00000141519 HGNC:26090 613799;613808 REVIEWED 1605253 CCDC57 coiled-coil domain containing 57 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3-methylcholanthrene; diazinon; ethyl methanesulfonate 17 17 17 q25.3 76681026 76765150 - 80059333 80170705 - 82101470 82212813 - 6480464;8554872 10737800;12477932;14702039;15851553;19913121;20379614;20628086;20682791;23718855;24722188;25036637;8619474;9110174 284001 E9PDF5;H7BYI8;J3KRQ8;J3KSU5;J3QQX7;K7N7D6;Q2TAC2 ABBA01019663;ABBA01019664;ABBA01019665;ABBA01019666;ABBA01019667;ABBA01019668;ABBA01019669;ABBA01019670;AC129510;AC132872;AC135056;AF007146;AK074059;AK074334;AK125941;AL137530;AMYH02034149;AMYH02034150;AMYH02034151;BC040264;BC110997;BE146089;CK431023;NM_198082;XM_005256345;XM_006722279 AAH40264;AAI10998;ACE86764;ACE87450;BAB84885;BAB85054;CAB70794;NP_932348;Q2TAC2;XP_005256402;XP_006722342 Hs.631724 1731044;1758059;1758425;1783518;5015619;5022588 D10S273;D11S3114;D5S1597E;SHGC-147232;SHGC-148294;SHGC-149799 FLJ00130;FLJ23754;FLJ43953;MGC102869 OTTHUMP00000179168;OTTHUMP00000184904;coiled-coil domain-containing protein 57 protein-coding ENSG00000176155 HGNC:27564 08041;14150 VALIDATED 1606017 CCDC59 coiled-coil domain containing 59 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsane; arsenic atom; cobalt dichloride 12 12 12 q21.31 82413647 82420144 - 82746083 82752584 - 82352304 82358805 - 6480464 11042152;11152647;12477932;12882447;14702039;16341674;16344560;16630564;17207965;17353931;21832049;23455922;24778252;24816145;8125298 29080 F8VNY5;Q9P031 ABBA01053471;AC083811;AF161477;AF213377;AK001156;AK225139;AL832749;AMYH02026848;BC020647;BG538660;BM846580;CH471054;DA666239;NM_014167;NR_033192 AAF29092;AAG43569;AAH20647;ADQ32217;BAA91524;EAW97379;EAW97380;NP_054886;Q9P031 Hs.582627 1654268;1685736;1723861;2109409;2119164 HSPC128_9574;RH118666;RH98258;SHGC-56799;STS-T48329 BR22;DKFZp686K1021;FLJ10294;HSPC128;TAP26 OTTHUMP00000243350;TTF-1-associated protein 26;TTF-1-associated protein BR2;coiled-coil domain-containing protein 59;thyroid transcription factor 1-associated protein 26 protein-coding ENSG00000133773 HGNC:25005 13696 VALIDATED 1602176 CCDC60 coiled-coil domain containing 60 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH atrazine; C60 fullerene (ortholog); cadmium dichloride (ortholog) 12 12 12 q24.23 119405646 119611925 + 119772517 119978852 + 119334712 119541047 + 6480464;8554872 12477932;15489334;16344560;17903295;18332876;21832049;8889548 160777 F5H2N8;F5H5H4;Q8IWA6 ABBA01020071;ABBA01020072;ABBA01020073;AC002070;AC084881;AK310830;AMYH02027340;AMYH02027341;AMYH02027342;AMYH02027343;AMYH02027344;AMYH02027345;BC040553;BM724243;CH471054;DB204596;NM_178499;XM_005253854;XM_006719265;XM_006719266;XM_006719267 AAH40553;ADZ15590;EAW98147;EAW98148;EAW98149;EAW98150;NP_848594;Q8IWA6;XP_005253911;XP_006719328;XP_006719329;XP_006719330 Hs.98188 1689566;1746769;1760359;1763673;1792142;2127421 G19120;G64758;PMC137543P4;RH92177;SHGC-141975;SHGC-147355 MGC39827 OTTHUMP00000239787;coiled-coil domain-containing protein 60 protein-coding ENSG00000183273 HGNC:28610 11347 VALIDATED 7206871 CCDC58P3 coiled-coil domain containing 58 pseudogene 3 18 18 p11.21 12211372 12212006 + 12211373 12212007 + 732448 ABBA01074011;AMYH02034325;AP005264;NG_030064 pseudo HGNC:45026 INFERRED 7206881 CCDC58P5 coiled-coil domain containing 58 pseudogene 5 11 11 11 70868436 70869179 - 73561510 73562252 - 73850465 73851207 - 100420588 ABBA01017504;AMYH02025097;AP002770;NG_024383 pseudo HGNC:45028 INFERRED 1603186 CCDC64 coiled-coil domain containing 64 ENCODES a protein that exhibits dynactin binding (ortholog); Rab GTPase binding (ortholog); INVOLVED IN Golgi to secretory granule transport (ortholog); neuron projection development (ortholog); FOUND IN centrosome (ortholog); INTERACTS WITH 17beta-estradiol; calcitriol; elemental selenium 12 12 12 q24.23 120060761 120165412 + 120427648 120532299 + 119989844 120094495 + 6480464 19734545;20379614;21555518 92558 B4DNE7;B4DWL0;H0YHP2;H0YHW1;H0YIC1;Q6ZP65 ABBA01020092;ABBA01020093;ABBA01020094;AC004812;AC004815;AK129960;AK297888;AK301580;AMYH02027359;AMYH02027360;AMYH02027361;AMYH02027362;AMYH02027363;CH471054;HI574098;NM_207311;U88834;XM_005253991;XM_006719694;XM_006719695;XM_006719696;XM_006719697;XR_429121 AAC83181;BAC85259;BAG60209;BAG63072;CBX47538;EAW98159;EAW98160;EAW98161;EAW98162;NP_997194;Q6ZP65;XP_005254048;XP_006719757;XP_006719758;XP_006719759;XP_006719760 Hs.369763 1677987;2139597;2157833 D12S1222E;G15657;RH78107 BICDR-1;FLJ26450;H_267D11.1 BICD-related protein 1;OTTHUMP00000240729;WUGSC:H_267D11.1;bicaudal D-related protein 1;coiled-coil domain-containing protein 64A protein-coding ENSG00000135127 HGNC:28095 14292 VALIDATED 1604733 CCDC63 coiled-coil domain containing 63 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; pirinixic acid 12 12 12 q24.11 110911504 110972027 + 111284757 111345339 + 110846960 110907535 + 6480464;8554872 12477932;14702039;16344560;21270382;21372407;23364009 160762 G3V217;Q8NA47 ABBA01005123;ABBA01005124;ABBA01005125;ABBA01019875;ABBA01019876;AC002351;AC002375;AK093162;AK302207;AK310294;AMYH02027195;AMYH02027196;BC044815;BC064580;BC073147;CH471054;DB036197;HC006984;NM_001286243;NM_001286244;NM_152591;XM_006719262;XM_006719263;XM_006719264 AAH44815;AAH64580;AAH73147;BAC04081;BAG63565;CBH19297;EAW97941;EAW97942;NP_001273172;NP_001273173;NP_689804;Q8NA47;XP_006719325;XP_006719326;XP_006719327 Hs.437141 FLJ35843;ODA5 OTTHUMP00000241468;OTTHUMP00000241469;OTTHUMP00000241470;coiled-coil domain-containing protein 63;outer row dynein assembly 5 homolog protein-coding ENSG00000173093 HGNC:26669 08765 VALIDATED 1344180 CCDC6 coiled-coil domain containing 6 This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010] 10 10 10 q21 54814284 54932343 - 61548505 61666414 - 59788747 59906656 - 1580863;6480464;6907045;7240710;8699517 12477932;14702039;14712216;15144186;15302935;16344560;16385451;1678508;16964243;17081983;17353931;17420723;18029348;18226854;18474871;18715871;19156129;19322201;19487296;19615732;19730683;20379614;20498639;21139048;21890473;21906983;22113938;22327623;22363533;22399611;22655027;22863883;23000965;23108047;23145146;23154560;2334411;23443559;23578175;24059746;2406025;24255178;24816145;2902563;3600795;6745938;775355;7753554;8058316;8889548;8889549 8030 Q05CP8;Q16204 AA112388;ABBA01019456;AC023904;AC060231;AK024913;AK055515;AK056848;AK292593;AMYH02023171;AMYH02023172;AMYH02023173;BC022284;BC036757;BC064391;BM672399;CH471083;DA189501;DA923950;NG_027819;NM_005436;S72869 AAC60637;AAH22284;AAH36757;AAH64391;BAF85282;EAW54196;EAW54197;NP_005427;Q16204 Hs.591360 1688372;1710018;1716391;1735994;2110205;2218346;5037441 CCDC6_4525;D10S1283E;D10S170E;RH121376;RH64866;SHGC-82279;stb3m2.p1b D10S170;FLJ32286;H4;PTC;TPC;TST1 OTTHUMP00000019644;coiled-coil domain-containing protein 6;papillary thyroid carcinoma-encoded protein APPROVED protein-coding ENSG00000108091 HGNC:18782 09064 188550;601985 REVIEWED 1626601 CCDC64B coiled-coil domain containing 64B ENCODES a protein that exhibits Rab GTPase binding (inferred); INTERACTS WITH melphalan; pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 3283423 3291087 - 3077683 3086950 - 3027682 3036928 - 6480464 12477932;16196087 146439 A1A5D9 ABBA01026726;AC108134;AK307181;AL833717;AL833749;AMYH02031280;BC015446;BC128602;BG142147;CH471112;NM_001103175;XM_005255135;XM_006720850 A1A5D9;AAI28603;CAH56245;EAW85420;NP_001096645;XP_005255192;XP_006720913 Hs.513285 BICDR-2;MGC158069 BICD-related protein 2;bicaudal D-related protein 2;coiled-coil domain-containing protein 64B protein-coding ENSG00000162069 HGNC:33584 VALIDATED 2290511 CCDC61 coiled-coil domain containing 61 FOUND IN centrosome; INTERACTS WITH lead(0); lead(2+); pirinixic acid 19 19 19 q13.32 43303349 43326887 + 46498719 46521874 + 45995461 46018616 + 6480464 15057824;17081983;19913121;20628086;8889548 729440 M0QY15;M0QYL5;Q9Y6R9 ABBA01040959;AC007785;AC011545;AMYH02036215;AW453013;BI819372;BQ184369;CA775840;CB852675;DR007040;GQ375050;NM_001267723;XM_005259191;XM_005259192 AAD38244;AAF98366;ACT79331;NP_001254652;Q9Y6R9;XP_005259248;XP_005259249 Hs.515479 1742029;1742045 GDB:189978;GDB:190005 coiled-coil domain-containing protein 61 protein-coding ENSG00000104983 HGNC:33629 VALIDATED 1605241 CCDC66 coiled-coil domain containing 66 INVOLVED IN post-embryonic retina morphogenesis in camera-type eye (inferred); retinal rod cell development (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; cyclosporin A; ethyl methanesulfonate 3 3 3 p14.3 56557122 56621599 + 56591184 56655864 + 56557156 56621836 + 6480464;8554872 12477932;14702039;16344560;17562024;20379614;21890473;22505724;23000965;8889548 285331 A2RUB6;C9JYB8;F2Z2K6;F8WB87;F8WCY0;F8WDJ0 AA887479;ABBA01024444;ABBA01024445;ABBA01024446;ABBA01024447;AC098478;AC099781;AK095688;AK096754;AK125303;AL832556;AL832692;AL833326;AMYH02006850;BC047509;BC132827;BG484326;BU674751;CF994722;CU456552;DA017177;NM_001012506;NM_001141947;NR_024460;XM_005265081;XM_005265082;XM_005265083;XM_005265084;XM_005265085;XM_005265087;XM_006713115 A2RUB6;AAH47509;AAI32828;BAC04607;BAG54180;NP_001012524;NP_001135419;XP_005265138;XP_005265139;XP_005265140;XP_005265141;XP_005265142;XP_005265144;XP_006713178 Hs.476399 2151630;5015619;5109527;5124341 D11S3114;D3S2752E;D3S2886E;RH94001 DKFZp686C0433 OTTHUMP00000208578;OTTHUMP00000208579;OTTHUMP00000208583;coiled-coil domain-containing protein 66 protein-coding ENSG00000180376 HGNC:27709 14569 VALIDATED 1346795 CCDC7 coiled-coil domain containing 7 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (+)-catechin 10 10 10 p11.22 32621488 32937125 + 32735057 33171805 + 32446082 32882864 + 8554872 11181995;12477932;14702039;15489334;16189514;16344560;16385451;18984674;19277478;20379614;21109960;22024937;22145905 79741 A2A3D6;Q96M83;Q9H943 AA401575;ABBA01033378;ABBA01033379;ABBA01033380;ABBA01033381;AK023093;AK057324;AK058148;AK097668;AK301824;AL354750;AL355540;AL356053;AL365203;AL391839;AL591850;AMYH02022585;AMYH02022586;BC022020;BC042672;BC125090;BC125091;BI462512;BX647771;CH471072;DB026046;EF656618;EF656619;EF656620;HY009015;NM_001026383;NM_024688;NM_145023;NR_109826;NR_109827;XM_005252593;XM_005252595;XM_006717504;XM_006717505;XM_006717506 AAH22020;AAH42672;AAI25091;AAI25092;ABR88143;ABR88144;ABR88145;BAB14400;BAB71426;BAB71686;BAC05140;BAG63270;CAC40698;CAI46051;EAW85962;EAW85963;EAW85964;EAW85965;EAW85966;NP_001021554;NP_078964;NP_659460;Q96M83;Q9H943;XP_005252650;XP_005252652;XP_006717567;XP_006717568;XP_006717569 Hs.585464 1669415;1700916;1724935 109YG3;RH104085;RH119234 BioT2-A;BioT2-B;BioT2-C;C10orf68;FLJ13031;MGC149767;RP11-479G22.1;dJ1104A8.1 OTTHUMP00000195173;OTTHUMP00000195174;OTTHUMP00000197723;coiled-coil domain-containing protein 7;uncharacterized protein C10orf68 APPROVED protein-coding ENSG00000150076;ENSG00000216937 HGNC:26533 10698 VALIDATED 1603292 CCDC62 coiled-coil domain containing 62 ENCODES a protein that exhibits estrogen receptor binding; ligand-dependent nuclear receptor transcription coactivator activity; INVOLVED IN cellular response to estradiol stimulus; positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; quercetin 12 12 12 q24.31 122851887 122906208 + 123259056 123311927 + 122774509 122827380 + 6480464;8554872 12477932;14702039;15489334;18029348;18563714;19126643;19165854;21292315;24312176 84660 F5H0F1;Q6P9F0 ABBA01060447;ABBA01060448;ABBA01060449;ABBA01060450;ABBA01060451;ABBA01060452;AC027290;AK097663;AK124633;AK292466;AMYH02027436;AMYH02027437;AMYH02027438;AMYH02027439;AMYH02027440;AW628007;AY009105;AY254201;BC060796;CD556476;CH471054;DB458565;NM_201435;NR_027918;XM_006719643;XM_006719644;XM_006719645;XM_006719646;XM_006719647 AAG49396;AAH60796;AAP13075;BAC85909;BAF85155;BAG53505;EAW98344;EAW98345;NP_958843;Q6P9F0;XP_006719706;XP_006719707;XP_006719708;XP_006719709;XP_006719710 Hs.592008 1684622;5015861;5022425;5037552;5109281;7185938 D10S16;D1S1425;D22S296;D8S2279;RH98639 CT109;ERAP75;FLJ25432;FLJ40344;TSP-NY;aaa OTTHUMP00000239373;OTTHUMP00000239374;OTTHUMP00000239611;aaa-protein;cancer/testis antigen 109;coiled-coil domain-containing protein 60;coiled-coil domain-containing protein 62;testis-specific protein TSP-NY protein-coding ENSG00000130783 HGNC:30723 15575 613481 VALIDATED 1601959 CCDC68 coiled-coil domain containing 68 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 18 18 18 q21 49286315 49344306 - 52568740 52626739 - 54901509 54959508 - 6480464;8554872 11149944;12477932;15142679;15489334;17207965;21441570;21926974;22939629;23453885 80323 K7EN04;Q9H2F9 ABBA01056105;ABBA01056106;ABBA01056107;AC098848;AF273051;AI823801;AK058097;AK313793;AMYH02034767;AMYH02034768;AMYH02034769;BC029508;CH471096;NM_001143829;NM_025214;XM_005266772;XM_006722552 AAG34911;AAH29508;ADQ31668;BAG36530;EAW63013;EAW63014;EAW63015;NP_001137301;NP_079490;Q9H2F9;XP_005266829;XP_006722615 Hs.120790 2126574;2177097 SHGC-58160;STS-H02496 FLJ25368;SE57-1 CTCL tumor antigen se57-1;CTCL-associated antigen se57-1;OTTHUMP00000163560;coiled-coil domain-containing protein 68;cutaneous T-cell lymphoma associated antigen;cutaneous T-cell lymphoma-associated antigen se57-1 protein-coding ENSG00000166510 HGNC:24350 18034 VALIDATED 1604557 CCDC65 coiled-coil domain containing 65 This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013] 12 12 12 q13.12 48092267 48109838 + 49297893 49325696 + 48904110 48921576 + 6480464;8699517;7240710;8554872 12477932;14702039;16344560;17089017;21700706;23991085;24094744;8889548 85478 B4DXQ7;F8VR42;F8W0R6;Q8IXS2 ABBA01031493;ABBA01031494;AC073610;AF382188;AK093051;AK098529;AK302082;AK314623;AMYH02026427;AMYH02026428;AMYH02026429;BC039317;CA314956;CH471111;DB026303;NG_033837;NM_001286957;NM_033124;XM_006719671 AAH39317;AAK60542;BAC04035;BAC05324;BAG37189;BAG63469;EAW58020;EAW58021;NP_001273886;NP_149115;Q8IXS2;XP_006719734 Hs.512805 1683876 RH98468 CILD27;FAP250;FLJ25663;FLJ35732;NYD-SP28 OTTHUMP00000243694;OTTHUMP00000243695;OTTHUMP00000243697;coiled-coil domain-containing protein 65;testis development protein NYD-SP28 APPROVED protein-coding ENSG00000139537 HGNC:29937 14867 611088;615504 REVIEWED 1606948 CCDC67 coiled-coil domain containing 67 INVOLVED IN de novo centriole assembly (ortholog); multi-ciliated epithelial cell differentiation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN deuterosome (ortholog); INTERACTS WITH arsenite(3-); 6-propyl-2-thiouracil (ortholog); chloroprene (ortholog) 11 11 11 q21 90361768 90463143 + 93063156 93171636 + 93329990 93438470 + 6480464;8554872 12477932;16189514;22424883;22610074;23251661;24240477;24722188 159989 E9PIY2;E9PJR5;E9PLL9;E9PLX9;E9PMP4;E9PPB2;Q05D60 ABBA01040045;ABBA01040046;ABBA01040047;AK058122;AK127973;AMYH02025355;AMYH02025356;AMYH02025357;AMYH02025358;AMYH02025359;AMYH02025360;AMYH02025361;AP003969;AP004242;BC017929;BC031247;BC050325;CH471065;DB449834;NM_181645;XM_005273802 AAH17929;AAH31247;BAB71673;BAC87213;EAW66898;EAW66899;EAW66900;NP_857596;Q05D60;XP_005273859 Hs.436625 2178962 D11S1160 FLJ25393 OTTHUMP00000235944;OTTHUMP00000235945;OTTHUMP00000235946;OTTHUMP00000235947;coiled-coil domain-containing protein 67;deuterosome protein 1 protein-coding ENSG00000165325 HGNC:26344 08689 VALIDATED 1601742 CCDC71 coiled-coil domain containing 71 INTERACTS WITH (-)-epigallocatechin 3-gallate; 3,3',5-triiodo-L-thyronine; potassium chromate 3 3 3 p21.31 49157127 49161007 - 49199968 49203785 - 49162535 49166352 - 6480464 12477932;14702039;15489334;16344560;17207965;17403666;21963094;22797925;24457600 64925 Q8IV32 ABBA01024608;AC135506;AK022862;AK023691;AK098658;AMYH02006744;BC035516;BC071960;CH471055;DA613715;NM_022903 AAH35516;AAH71960;ADQ31800;BAB14278;BAB14642;EAW64960;NP_075054;Q8IV32 Hs.211472 FLJ12800;FLJ13629 2600016J21Rik;OTTHUMP00000210680;coiled-coil domain-containing protein 71 protein-coding ENSG00000177352 HGNC:25760 08576 VALIDATED 1603195 CCDC70 coiled-coil domain containing 70 FOUND IN plasma membrane; INTERACTS WITH benzo[a]pyrene; ethanol; silicon dioxide 13 13 13 q14.3 33484752 33489009 + 52436117 52440372 + 51861981 51866236 + 6480464 11230166;11256614;12477932;14702039;15057823;15342556;15489334;17207965;8125298 83446 Q6NSX1 ABBA01051051;AK098719;AK225745;AL136887;AL162377;AMYH02028038;BC069691;BC069748;BC069770;BC069806;BP371671;CH471075;CS072272;NM_031290 AAH69691;AAH69748;AAH69770;AAH69806;ACE86850;ACE87537;ADQ32881;BAC05391;CAB66821;CAI93410;EAX08897;NP_112580;Q6NSX1 Hs.120573 5017753 CCDC70 DKFZp434K1172;FLJ25853 OTTHUMP00000018440;coiled-coil domain-containing protein 70 protein-coding ENSG00000123171 HGNC:25303 13158 PROVISIONAL 1605902 CCDC74B coiled-coil domain containing 74B INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; atrazine 2 2 2 q21.1 124177086 124177399 - 130896856 130902707 - 130139283 130145134 - 6480464 12477932;14702039;15489334;23455924 91409 B8ZZB0;C9JC78;E7ESC5;E9PG54;F8WB40;F8WCQ0;H7C1C8;Q96LY2 ABBA01017941;AC018804;AI300820;AK057609;AK297246;AK302804;AL133619;AMYH02004774;BC067771;CD359923;NM_001258307;NM_207310;XM_005263838;XM_005263839;XM_005263840;XM_005263842;XM_006712833;XM_006712834;XM_006712835;XM_006712836;XM_006712837 AAH67771;BAB71533;BAG59726;BAG64006;CAB63745;NP_001245236;NP_997193;Q96LY2;XP_005263895;XP_005263896;XP_005263897;XP_005263899;XP_006712896;XP_006712897;XP_006712898;XP_006712899;XP_006712900 Hs.29383 2147860 RH69556 DKFZp434E2321 OTTHUMP00000162397;OTTHUMP00000204217;OTTHUMP00000204285;coiled-coil domain-containing protein 74B protein-coding ENSG00000152076 HGNC:25267 08534 VALIDATED 6766706 CCDC74B-AS1 CCDC74B antisense RNA 1 (non-protein coding) 2147860;5037552 D8S2279;RH69556 miscrna VALIDATED 1353671 CCDC7 coiled-coil domain containing 7 10 10 p11.22 32499925 32628330 + 32735041 32863492 + 737633 12477932 14702039;15489334;16189514;16385451;19277478;20379614;21109960;22024937;22145905 221016 A6YT98;A6YT99;A6YTA0;Q5JTR9 ABBA01033381;AK057324;AK058148;AL354750;AL391839;AMYH02022585;AMYH02022586;BC022020;BC042672;BI462512;BX647771;CH471072;EF656618;EF656619;EF656620;NM_001026383;NM_145023 AAH22020;AAH42672;ABR88143;ABR88144;ABR88145;BAB71426;BAB71686;CAI46051;EAW85964;EAW85965;EAW85966;NP_001021554;NP_659460;Q96M83 Hs.585464 1647519;1679107;1680974;1682810;1700916;1709248 G23952;RH104085;RH40315;RH69539;RH99057;SHGC-85814 BioT2-A;BioT2-B;BioT2-C;DKFZp686N0559;FLJ32762;RP11-479G22.1 OTTHUMP00000019417;OTTHUMP00000019418;coiled-coil domain-containing protein 7 protein-coding ENSG00000216937 HGNC:26533 10812 VALIDATED 1601781 CCDC73 coiled-coil domain containing 73 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cocaine (ortholog) 11 11 11 p13 32770373 32962956 - 32623626 32816204 - 32602080 32794658 - 6480464;8554872 12477932;12601173;18519826;20379614 493860 A6H8Y7;H0YDV2;Q6ZRK6 AA521271;ABBA01060907;ABBA01060908;AC244259;AK128159;AK131470;AL035400;AL049714;AL078477;AL096793;AMYH02024559;AW088759;AY211922;BC062749;BC146800;BU569581;CH471064;KF455352;KF455361;NM_001008391 AAH62749;AAI46801;AAI67796;AAO65175;BAC87304;BAD18615;EAW68216;NP_001008392;Q6ZRK6 Hs.706808 1660145;1703220;1734020;1737795 D11S2162;D11S3395;D11S4680;SGC31799 NY-SAR-79 OTTHUMP00000232448;coiled-coil domain-containing protein 73;sarcoma antigen NY-SAR-79 protein-coding ENSG00000186714 HGNC:23261 17414 612328 VALIDATED 1602288 CCDC71L coiled-coil domain containing 71-like INTERACTS WITH arsenite(3-); cobalt dichloride; ethyl methanesulfonate 7 7 7 q22.3 101104196 101106638 - 106297211 106301634 - 106656765 106661188 - 6480464 12107410;12477932;12690205;14702039;21890473;21906983;22505724;8889549 168455 Q8N9Z2 AA191066;ABBA01057922;AC004917;AI674055;AK021498;AK093350;AK098422;AMYH02016498;BC013906;BC032243;CA397148;CH236947;CK904414;NM_175884 AAH13906;BAC04142;EAL24398;NP_787080;Q8N9Z2 Hs.29692;Hs.633903 1848110;2163057 RH48695;WI-17564 C7orf74;FLJ11436;FLJ25556;FLJ36031;MGC16181 OTTHUMP00000226016;coiled-coil domain-containing protein 71L;hypothetical protein LOC168455;uncharacterized protein C7orf74 APPROVED protein-coding ENSG00000253276 HGNC:26685 08202 VALIDATED 1601842 CCDC77 coiled-coil domain containing 77 ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 12 12 12 p13.33 2107358 2158930 + 498516 551811 + 389350 442642 + 6480464;8554872 12477932;14702039;15489334;16344560;19946888;21139048;21963094;22505724;23563609;24255178 84318 F5H0W5;F5H5Q8;Q9BR77 ABBA01048853;ABBA01048854;ABBA01048855;AC005844;AK027638;AK293165;AK308216;AK316029;AMYH02025851;BC006444;CH471116;CX784327;DA711064;DC331633;NM_001130146;NM_001130147;NM_001130148;NM_032358 AAH06444;BAB55255;BAG56709;BAH14400;EAW88967;EAW88968;EAW88969;NP_001123618;NP_001123619;NP_001123620;NP_115734;Q9BR77 Hs.631656 1668052;1693596;2167977 D12S1867;RH47557;SHGC-58503 MGC13183 OTTHUMP00000159504;OTTHUMP00000237747;OTTHUMP00000237749;OTTHUMP00000237750;coiled-coil domain-containing protein 77 protein-coding ENSG00000120647 HGNC:28203 17485 VALIDATED 1603313 CCDC69 coiled-coil domain containing 69 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; cyclosporin A 5 5 5 q33.1 146641931 146685003 - 150560613 150603654 - 151181052 151224093 - 6480464;8554872 12477932;14702039;20962590;21900206;23251661;23568457;8125298 26112 A6NI79;E5RK59;H0YB32;H0YBY5;Q7L2X4 ABBA01026265;AC008385;AC011342;AK023767;AK094658;AK225826;AK292841;AK298063;AL080169;AL713742;AMYH02012464;AY538626;BC013053;BC016647;BM927471;CH471062;NM_015621 A6NI79;AAH16647;AAS45488;BAB14672;BAF85530;BAG60356;CAB45757;EAW61682;EAW61683;NP_056436 Hs.655336 1773786;1780830;1849695;2135282;2179806;5014051 D5S2842;D8S2278;RH45592;SHGC-57158;WI-12039;bac52338S DKFZp434C171;FLJ13705 OTTHUMP00000160622;OTTHUMP00000224129;coiled-coil domain-containing protein 69 protein-coding ENSG00000198624 HGNC:24487 13152 VALIDATED 5489341 CCDC75P1 coiled-coil domain containing 75 pseudogene 1 3 3 3 p13 73165549 73166652 - 73231319 73232558 - 73182168 73183407 - 344709 ABBA01030963;AC138389;AMYH02007067;NG_022207 pseudo HGNC:42659 INFERRED 1605353 CCDC81 coiled-coil domain containing 81 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; quercetin; cyclosporin A (ortholog) 11 11 11 q14.2 83396384 83444761 + 86085778 86134151 + 86374736 86423109 + 6480464;8554872 12477932 60494 E9PMI9;Q6ZN84 ABBA01017322;AI073989;AK027167;AK131331;AK223168;AK298875;AMYH02025232;AP001148;BC126412;NM_001156474;NM_021827;XM_005274161;XM_005274162 AAI26413;BAB15681;BAD18491;BAD96888;BAG60992;NP_001149946;NP_068599;Q6ZN84;XP_005274218;XP_005274219 Hs.144913 1729794;2130612 D11S2619;D16S321 FLJ16339;FLJ23514 OTTHUMP00000235494;OTTHUMP00000235496;OTTHUMP00000235497;coiled-coil domain-containing protein 81 protein-coding ENSG00000149201 HGNC:26281 08032 VALIDATED 1602861 CCDC82 coiled-coil domain containing 82 INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 11 11 11 q21 93386131 93423283 - 96085929 96123083 - 96352765 96389919 - 6480464 10931946;11042152;12477932;14702039;15489334;16344560;17081983;17353931;23793441;8889548 79780 E9PMD6;F5H777;Q8N4S0 ABBA01040006;AF161533;AF245436;AK027171;AK056790;AK074306;AK313893;AK314669;AMYH02025392;AP000848;AP003781;BC018663;BC033726;BM678039;BU742709;CH471065;DA801410;NM_024725;XM_005274292;XM_005274293;XM_006718909;XM_006718910;XM_006718911;XM_006718912 AAF29020;AAG44484;AAH18663;AAH33726;ACE86639;ACE87321;ADZ15672;BAB15683;BAG36616;BAG37226;BAG51809;EAW66979;EAW66980;EAW66981;EAW66982;EAW66983;EAW66984;EAW66985;NP_079001;Q8N4S0;XP_005274349;XP_005274350;XP_006718972;XP_006718973;XP_006718974;XP_006718975 Hs.525088 2126034 STS-R68789 FLJ23518;HSPC048 OTTHUMP00000236426;OTTHUMP00000236427;coiled-coil domain-containing protein 82 protein-coding ENSG00000149231 HGNC:26282 08033 VALIDATED 1351060 CCDC8 coiled-coil domain containing 8 This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011] 19 19 19 q13.32 43718552 43721888 - 46913586 46916919 - 46410329 46413662 - 737633;6480464;8699517;8554872;7240710 12477932 11230166;11256614;15489334;19389623;20301654;21139048;21572988;21737058;22084066;22156540;23018678;23443559;23455922;23602568;24778252;24793695 83987 G8IFA7;Q9H0W5 ABBA01040975;AC024584;AI301367;AK297668;AL136609;AMYH02036222;BC015648;BC025243;BG717344;BX096201;CH471126;JN703457;NG_031956;NM_032040 AAH25243;ACE86552;AET25567;BAG60030;CAB66544;EAW57418;NP_114429;Q9H0W5 Hs.744359;Hs.97876 3M3;DKFZp564K0322;PPP1R20;p90 OTTHUMP00000221906;coiled-coil domain-containing protein 8;protein phosphatase 1, regulatory subunit 20 APPROVED protein-coding ENSG00000169515 HGNC:25367 13009 614145;614205 REVIEWED 1606128 CCDC83 coiled-coil domain containing 83 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH arsane; arsenic atom; pirinixic acid (ortholog) 11 11 11 q14.1-q14.2 82875432 82940333 + 85566144 85631064 + 85855086 85920021 + 6480464;8554872 12477932;14702039;17207965;17633455;22923163 220047 H0YDV3;Q8IWF9 AA991734;ABBA01017331;ABBA01017332;AK093405;AK124113;AK314036;AMYH02025221;AMYH02025222;AP000974;AP003128;AY251167;BC040280;CH471076;HC007154;HC044677;NM_001286159;NM_173556;XM_005273842;XM_006718468;XM_006718469 AAH40280;AAP20064;ADQ31764;BAC04154;BAC85776;BAG36746;CBH19382;CBH30668;EAW75114;EAW75115;NP_001273088;NP_775827;Q8IWF9;XP_005273899;XP_006718531;XP_006718532 Hs.567774 1338704;1697286 D11S1979;RH102140 CT148;FLJ42119;HSD9;MGC34732 OTTHUMP00000234627;OTTHUMP00000234628;coiled-coil domain-containing protein 83 protein-coding ENSG00000150676 HGNC:28535 14586 VALIDATED 1604765 CCDC74A coiled-coil domain containing 74A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH potassium dichromate (ortholog); titanium dioxide (ortholog) 2 2 2 q21.1 126010320 126016067 + 132285248 132291239 + 131527834 131533666 + 6480464;8554872 12477932;14702039;15489334;15489335;15815621;16344560;17207965;23455924 90557 C9IYK9;F1SW65;F1SW66;F5GZA4;F8WEI8;Q96AQ1 AB299086;AB299087;ABBA01028229;ABBA01028230;ABBA01028231;AC093838;AK097664;AK309113;AMYH02004810;BC016861;BC030744;BC063387;CS063590;CV023784;DA375407;NM_001258304;NM_001258305;NM_001258306;NM_138770;XM_005263835;XM_005263836;XM_005263837;XM_006712828;XM_006712829;XM_006712830;XM_006712831;XR_427120;XR_427121;XR_427122;XR_427123 AAH16861;AAH30744;AAH63387;AAY14809;ADQ31761;BAC05137;BAK08536;BAK08537;CAI84530;NP_001245233;NP_001245234;NP_001245235;NP_620125;Q96AQ1;XP_005263892;XP_005263893;XP_005263894;XP_006712891;XP_006712892;XP_006712893;XP_006712894 Hs.351461 2147860 RH69556 CCDC74AV2;CCDC74AV3;FLJ40345 OTTHUMP00000162445;OTTHUMP00000204205;coiled-coil domain-containing protein 74A protein-coding ENSG00000163040 HGNC:25197 14274 VALIDATED 1605833 CCDC79 coiled-coil domain containing 79 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN meiotic telomere clustering (ortholog); synapsis (ortholog); FOUND IN chromosome, telomeric region (ortholog); INTERACTS WITH aflatoxin B1 (ortholog); bisphenol A (ortholog) 16 16 16 q22.1 51297518 51343833 - 66788879 66835523 - 66754596 66801620 - 6480464 12477932;14702039 283847 J3KSG9;J3KT78;Q8NA31 ABBA01025415;ABBA01025416;ABBA01025417;AC044802;AK093213;AMYH02032214;AMYH02032215;AMYH02032216;BC126109;NM_001136505;XM_006721177;XR_429718 AAI26110;BAC04098;NP_001129977;Q8NA31;XP_006721240 Hs.376505 1664357;1701462 Cda01h11;RH104363 FLJ35894 coiled-coil domain-containing protein 79;telomere repeats-binding bouquet formation protein 1 protein-coding ENSG00000249961 HGNC:26675 08197 PROVISIONAL 1345830 CCDC78 coiled-coil domain containing 78 The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012] 16 16 16 p13.3 972747 976638 - 772582 776880 - 722582 726923 - 6480464;8699517;7240710;8554872 11157797;12477932;14702039;18029348;20237496;22818856;24075808 124093 A2IDD5;D3DU63;H3BLT8;I3L158 ABBA01030353;AE006464;AK057178;AK091831;AK127495;AK128538;AK128575;AK298111;AK303991;AMYH02031205;AY439221;BC027941;BC042110;CH471112;DC341680;NG_032932;NM_001031737;XM_005255102;XM_005255106;XM_006720838;XM_006720839;XM_006720840;XM_006720841;XM_006720842;XM_006720843;XM_006720844;XR_429634;XR_429635;Z98258 A2IDD5;AAH42110;AAK61249;AAR13900;BAC03757;BAC87006;BAC87488;BAG60396;BAG64908;EAW85734;EAW85735;EAW85736;EAW85737;EAW85738;EAW85739;EAW85740;EAW85741;EAW85742;EAW85743;EAW85744;EAW85745;NP_001026907;XP_005255159;XP_005255163;XP_006720901;XP_006720902;XP_006720903;XP_006720904;XP_006720905;XP_006720906;XP_006720907 Hs.381943 C16orf25;CNM4;FLJ34512;JFP10;LA16c-444G9.2;hsCCDC78 OTTHUMP00000149990;OTTHUMP00000237752;chromosome 16 open reading frame 25;coiled-coil domain-containing protein 78 APPROVED protein-coding ENSG00000162004 HGNC:14153 08174 614666;614807 VALIDATED 736330 CCDC80 coiled-coil domain containing 80 ENCODES a protein that exhibits fibronectin binding (inferred); heparin binding (inferred); INVOLVED IN extracellular matrix organization (inferred); positive regulation of cell-substrate adhesion (inferred); FOUND IN basement membrane (inferred); interstitial matrix (inferred); INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid 3 3 3 q13.2 110732063 110768628 - 112323407 112359977 - 112604386 112641143 - 6480464 11812002;12477932;14702039;15146197;15325258;15489334;15563452;15998583;16341674;16344560;18029348;18178152;209648;21145461;21871888;23042114;23666966;23831687;8889548 151887 C9J8I6;H7C5K4;Q76M96 AB052098;AB266387;ABBA01061660;AC048334;AF506819;AK075210;AK292881;AK304561;AL833034;AMYH02007442;AY333429;AY526612;AY548106;AY548107;AY726593;BC023639;BC042105;BC042128;BC073164;BC086876;BC110842;BC116178;BC116179;BM787873;BX647117;BX647817;CH471052;CN360806;DA573543;NM_199511;NM_199512;XM_005247135 AAH42105;AAH73164;AAH86876;AAI10843;AAI16179;AAM33633;AAQ96742;AAS66643;AAS66644;AAS92235;BAC11475;BAD05134;BAF48770;BAF85570;BAG65354;CAH56167;CAH56178;CAH56325;EAW79663;EAW79664;EAW79665;NP_955805;NP_955806;Q76M96;XP_005247192 Hs.477128 1687610;1698522;1777918;1854863;2130462;5017785;5111490 CCDC80;D3S3894;RH102812;RH80490;SHGC-77203;SHGC-77206;STS-N24008 DRO1;MGC131805;MGC134851;SSG1;URB OTTHUMP00000214595;OTTHUMP00000214596;OTTHUMP00000214599;coiled-coil domain-containing protein 80;down-regulated by oncogenes protein 1;nuclear envelope protein okuribin;okuribin;steroid sensitive gene 1;up-regulated in BRS-3 deficient mouse homolog protein-coding ENSG00000091986 HGNC:30649 10508 608298 VALIDATED 1602413 CCDC84 coiled-coil domain containing 84 This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 11 11 11 q23.3 116026304 116043591 + 118868843 118886455 + 118998133 119015793 + 6480464 12477932;15489334;8889548 338657 E9PJ16;E9PPT8;Q86UT8 AB094093;ABBA01039681;ABBA01039682;AMYH02025659;AP003392;AW014772;BC126469;BC126471;BC144208;BC144209;BC144210;BG251503;BU733365;CH471065;DB565963;HY073607;NM_198489;NR_104049;NR_104050;NR_104051;XM_005271541;XR_246425;XR_246426;XR_246429;XR_246430 AAI26470;AAI26472;ADR83140;BAC76047;EAW67422;EAW67423;EAW67424;NP_940891;Q86UT8;XP_005271598 Hs.534613 1697318;1701242;1738125 D11S3747;RH102156;RH104249 DLNB14 OTTHUMP00000232693;coiled-coil domain-containing protein 84 protein-coding ENSG00000186166 HGNC:30460 13234 REVIEWED 1605892 CCDC85A coiled-coil domain containing 85A ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH calcitriol; formaldehyde; testosterone 2 2 2 p16.1 56251690 56453674 + 56411258 56613309 + 56184123 56386174 + 6480464;8554872 11572484;12477932;20379614;21102462;21900206 114800 Q96PX6 AB067499;ABBA01075280;ABBA01075281;ABBA01075282;ABBA01075283;AC007743;AC007744;AMYH02003865;BC131557;CH471053;NM_001080433;XM_005264125 AAI31558;AAI56396;AAI57124;BAB67805;EAX00077;NP_001073902;Q96PX6;XP_005264182 Hs.117136 1675953;1741323;1784132;2175598 GDB:180455;RH94185;SHGC-154452;SHGC-36792 KIAA1912 OTTHUMP00000201047;OTTHUMP00000201056;coiled-coil domain-containing protein 85A protein-coding ENSG00000055813 HGNC:29400 PROVISIONAL 1604295 CCDC86 coiled-coil domain containing 86 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN viral process (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 11 11 11 q12.2 57970276 57979408 + 60609429 60618561 + 60841956 60851088 + 6480464 12477932;15302935;15607035;16169070;16344560;16751776;17300783;18029348;19851296;19913121;20198315;20628086;21890473;22586326;23439384;23602568;23740775;24250222;24816145 79080 B4DY99;H0YG79;Q9H6F5 ABBA01021516;AI018490;AK025974;AK123775;AK302329;AMYH02024875;AP000777;BC001378;BE795888;CH471076;DA292314;DQ501251;DQ587658;NM_024098 AAH01378;ABF68612;ABM83529;ABM86770;BAB15304;BAC85689;BAG63661;EAW73901;NP_077003;Q9H6F5 Hs.4253 1680693;2144223;2151624 IB1021;RH11821;RH67900 FLJ22321;MGC2574 OTTHUMP00000236554;OTTHUMP00000236805;coiled-coil domain-containing protein 86;cyclon;cytokine-induced protein with coiled-coil domain protein-coding ENSG00000110104 HGNC:28359 08322 611293 VALIDATED 1344482 CCDC85C coiled-coil domain containing 85C INVOLVED IN cerebral cortex development (ortholog); FOUND IN apical junction complex (ortholog); INTERACTS WITH copper atom; copper(0); valproic acid 14 14 14 q32.31 80032485 80125607 - 99977603 100070727 - 99511266 99604390 - 6480464 11181995;12477932;12508121;14702039;15489334;16344560;20360068;24255178 317762 A6NKD9;G3V2D7;G3V4C8;G3V5D5;H0YJE0;H0YJY5 ABBA01048555;ABBA01048556;ABBA01048557;ABBA01048558;AK026211;AK093969;AK096927;AK123840;AL110504;AL160313;AMYH02029836;BC029998;BC031990;BC110042;NM_001144995 A6NKD9;BAB15395;BAC04260;NP_001138467 Hs.709288 1657376;1660974;1661577;1697236;1730323;1773588;1797354;1849208;2141700;2149968;2184709;5093876;7187556 A009Y14;AFMB048YF1;CCNK_1614.3;D14S90E;G32976;G35001;G35350;G35787;RH102112;RH1621;RH44755;RH69937 FLJ22558;MGC117455 OTTHUMP00000246255;OTTHUMP00000246257;OTTHUMP00000246259;coiled-coil domain-containing protein 85C protein-coding HGNC:35459 VALIDATED 1605406 CCDC85B coiled-coil domain containing 85B Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 62981782 62983013 + 65657875 65659106 + 65890404 65891635 + 6480464 12477932;15489334;15605074;15644333;16189514;16713569;17014843;17207965;17873903;23128233;8810253;8848724;9115212 11007 Q15834 ABBA01024097;AI583181;AK312109;AMYH02024966;AP006287;BC008796;CH471076;NM_006848;U63825 AAB05928;AAH08796;ADQ32425;BAG35045;EAW74468;NP_006839;Q15834 Hs.66713 1668826;2158918 RH47013;STS-U63825 DIPA OTTHUMP00000234060;coiled-coil domain-containing protein 85B;delta-interacting protein A;hepatitis delta antigen interacting protein A;hepatitis delta antigen-interacting protein A APPROVED protein-coding ENSG00000175602 HGNC:24926 16101 605360 VALIDATED 1348427 CCDC9 coiled-coil domain containing 9 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; amiodarone 19 19 19 q13.32 44563607 44579090 + 47759731 47777329 + 47256474 47273835 + 737633;6480464 12477932 11230166;11256614;15302935;15489334;16341674;20360068;21044950;23084401;24816145 26093 B4DXW2;M0QYB4;M0QZR0;M0R2W0;Q9Y3X0 ABBA01041018;ABBA01041019;AC008532;AK302153;AL050284;AMYH02036256;BC002787;BC009743;BM737911;CH471126;CR977312;NM_015603;XM_006723133;XM_006723134;XM_006723135;XM_006723136 AAH02787;AAH09743;ADZ15464;BAG63524;CAB43385;EAW57468;NP_056418;Q9Y3X0;XP_006723196;XP_006723197;XP_006723198;XP_006723199 Hs.227782 2109115 CCDC9_9457 DKFZp586M1019 coiled-coil domain-containing protein 9 protein-coding ENSG00000105321 HGNC:24560 10813 VALIDATED 1347801 CCDC88A coiled-coil domain containing 88A This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 2 2 2 p16.1 55355473 55487467 - 55514978 55647057 - 55287842 55419921 - 6480464;8554872 10574462;12477932;14676191;14702039;15749703;15753085;15882442;16139227;16344560;16751776;17043677;18264090;18316593;18663145;19211784;20132219;20157114;20379614;20462955;20515748;20936779;20974669;21139048;21209316;21799016;21906983;21954290;21998595;22020337;22116776;22308453;22574214;22714912;22755556;22780975;22990118;23051738;23066027;23184937;23195430;23349634;23443559;23588413;23886629;24166409;24326843 55704 B3KW94;C9J225;H0Y470;H0Y7K3;H0Y7U8;H7C2C6;O14997;Q3V6T2 AB033038;AB125644;AB201172;ABBA01075266;ABBA01075267;AC012358;AC019198;AC092176;AF112218;AK001254;AK024717;AK025723;AK124603;AK124761;AK299823;AK307964;AL036590;AMYH02003849;AMYH02003850;AMYH02003851;AMYH02003852;AV728179;BC014905;BC015539;BC032683;BC035848;BC041160;BC045829;BC056885;BC060037;BC078168;BC092515;BC132736;BC142646;BC142700;BC144320;BU570532;BX537985;BX538154;BX647874;BX648138;CH471053;D64159;DA488073;NG_031944;NM_001135597;NM_001254943;NM_018084;XM_005264418;XM_005264421;XM_005264423;XM_005264426;XM_005264427 AAF17206;AAH41160;AAH60037;AAH78168;AAI32737;AAI44321;AAX82029;AAY14932;BAA21515;BAA86526;BAA91584;BAE44387;BAF44475;BAG54056;BAG61692;CAD97945;CAD98038;CAI46020;EAX00099;EAX00100;EAX00101;NP_001129069;NP_001241872;NP_060554;Q3V6T2;XP_005264475;XP_005264478;XP_005264480;XP_005264483;XP_005264484 Hs.292925 1665144;1665146;1668830;1670106;1673326;1676962;1682934;1690326;1717507;1778129;5016700;5020946;5022200;5022450;5037552;5037554;5126408;7186386 A006B27;D10S275;D2S1285;D2S137;D8S2279;D8S2282;G20678;L17971;L18426;RH122259;RH12571;RH69376;RH79802;RH79821;RH92651;RH93856;UniSTS:15027;WI-22280 APE;DKFZp686D0630;GIV;GRDN;HkRP1;KIAA1212 AKT-phosphorylation enhancer;Galpha-interacting vesicle-associated protein;G{alpha}-interacting vesicle-associated protein;Hook-related protein 1;OTTHUMP00000200778;OTTHUMP00000201690;akt phosphorylation enhancer;coiled-coil domain-containing protein 88A;g alpha-interacting vesicle-associated protein;girders of actin filament;girders of actin filaments;girdin APPROVED protein-coding ENSG00000115355 HGNC:25523 10051;11131 609736 REVIEWED 1602421 CCDC89 coiled-coil domain containing 89 FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH aflatoxin B1; 17alpha-ethynylestradiol (ortholog); chloroprene (ortholog) 11 11 11 q14.1 82704196 82706623 - 85394893 85397320 - 85683850 85686277 - 6480464 12477932;14702039;15188402;15489334;24250222 220388 Q8N998 ABBA01017336;AK095478;AMYH02025218;AP000642;BC044814;CH471076;NM_152723 AAH44814;BAC04556;EAW75106;NP_689936;Q8N998 Hs.376241 FLJ38159 OTTHUMP00000234605;bc8 orange-interacting protein;coiled-coil domain-containing protein 89 protein-coding HGNC:26762 08234 PROVISIONAL 1346283 CCDC90AP1 coiled-coil domain containing 90A pseudogene 1 17 17 17 p13.3 2046744 2047594 - 2030722 2031572 - 2127428 2128278 - 53383 ABBA01054693;AC090617;AMYH02032762;NG_026139;NG_033980 C17orf23 hypothetical protein LOC53383;uncharacterized protein LOC53383 APPROVED pseudo HGNC:1217 INFERRED 1605354 CCDC90B coiled-coil domain containing 90B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion; INTERACTS WITH (-)-demecolcine; aflatoxin B1; all-trans-retinoic acid 11 11 11 q14.1 80282156 80307022 - 82972498 82997445 - 83259093 83286407 - 6480464;8554872 11230166;11256614;12477932;14702039;15146197;16169070;18029348;20877624;21900206;8125298 60492 E9PKQ5;E9PMQ7;E9PNI8;E9PPJ7;E9PRC2;E9PSG6;H0YD95;H0YF06;J3KN19;Q9GZT6 ABBA01017362;AF182412;AF182424;AF271782;AK026338;AK055972;AK225726;AK304769;AK315787;AL136791;AMYH02025191;AP000873;AV756714;BC014573;BC017771;BC020783;BC032701;BC048795;BC067764;BC107755;BF131344;BG700162;CH471076;CN309108;KF510385;NM_001286116;NM_001286117;NM_001286118;NM_001286119;NM_001286120;NM_021825;XM_005274152;XM_005274154;XM_005274156;XM_005274159;XM_006718654 AAG14948;AAG14960;AAG44793;AAH14573;AAH20783;AAI07756;BAG38133;BAG51599;BAG65524;CAB66725;EAW75088;EAW75089;EAW75090;EAW75091;NP_001273045;NP_001273046;NP_001273047;NP_001273048;NP_001273049;NP_068597;Q9GZT6;XP_005274209;XP_005274211;XP_005274213;XP_005274216;XP_006718717 Hs.368866 1645423;1772126;1846803;2129424;2135953;2152060 A004O44;A006K03;D11S2267E;SHGC-50338;WI-13569;WI-13893 MDS011;MDS025;MGC104239 OTTHUMP00000235040;OTTHUMP00000235041;OTTHUMP00000235042;OTTHUMP00000235044;OTTHUMP00000235081;OTTHUMP00000235083;coiled-coil domain-containing protein 90B, mitochondrial protein-coding ENSG00000137500 HGNC:28108 14378 VALIDATED 1605359 CCDC91 coiled-coil domain containing 91 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN protein transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi apparatus; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 12 12 12 p11.22 33556106 33849062 + 28343360 28703099 + 28190427 28550166 + 6480464;8554872 12477932;12808037;12858163;14702039;15489334;16189514;17596511;18029348;20379614;20808825;20881960;21139048;22990118;23251661;23563607;24816145;8889548 55297 F5GWB1;F5GWR1;F5GXK6;F5GZH9;F5H3Z8;F5H4N8;H0YFR6;H0YGB4;H0YGN9;H0YH48;H0YH50;Q05D28;Q7Z6B0 ABBA01068060;ABBA01068061;AC022079;AC024939;AC046131;AC084754;AK001950;AK093152;AK309181;AL570537;AMYH02026251;AMYH02026252;AMYH02026253;AMYH02026254;AMYH02026255;AMYH02026256;AMYH02026257;AY251168;AY289196;BC018679;BC028682;BU739164;CH471094;CR457277;CR749586;NM_018318;XM_005253413;XM_005253414;XM_005253415;XM_005253416;XM_006719103;XM_006719104;XM_006719105 AAH18679;AAH28682;AAP20065;AAP42284;BAA91995;BAG52665;CAG33558;CAH18385;EAW96579;EAW96580;EAW96581;EAW96582;NP_060788;Q7Z6B0;XP_005253470;XP_005253471;XP_005253472;XP_005253473;XP_006719166;XP_006719167;XP_006719168 Hs.653125 1697544;1725907;1725943;1726009;1726075;2146799 G62260;G62295;G62326;G62361;RH102279;SGC44230 DKFZP779L1558;FLJ11088;HSD8;p56 GGA binding partner;GGA-binding partner;OTTHUMP00000240176;OTTHUMP00000240177;OTTHUMP00000240178;OTTHUMP00000240181;coiled-coil domain-containing protein 91;p56 accessory protein protein-coding ENSG00000123106 HGNC:24855 16905 VALIDATED 1603997 CCDC94 coiled-coil domain containing 94 INTERACTS WITH atrazine; bis(2-chloroethyl) sulfide; copper(2+) sulfate 19 19 19 p13.3 4186494 4208470 + 4247111 4269085 + 4247114 4269088 + 6480464 12477932;14702039;15489334;17081983;21139048 55702 M0R2S3;Q9BW85 ABBA01056081;AC005578;AC008616;AF091080;AK001236;AK023988;AMYH02035280;AMYH02035281;AMYH02035282;BC000561;BC019096;CH471139;NM_018074 AAC33489;AAC72949;AAH00561;AAH19096;BAA91572;BAB14757;EAW69242;EAW69243;NP_060544;Q9BW85 Hs.21811 1697712;1734680 D19S685E;RH102374 FLJ10374 coiled-coil domain-containing protein 94 protein-coding ENSG00000105248 HGNC:25518 08546 PROVISIONAL 1604894 CCDC88C coiled-coil domain containing 88C This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013] 14 14 14 q32.11 71786122 71932885 - 91737667 91884188 - 91271323 91417844 - 6480464;7240710;8554872;8699517 10819331;12477932;14702039;14750955;16751776;17185515;21031079;21832049;21900206;22558309;23042809;23184937;23535729;23824909;24255178;24772479;24816145;25015289;25062847;8619474;9110174 440193 B4DZB8;G3V3S0;H0YJX5;Q0P665;Q9P219 ABBA01030480;ABBA01030481;AF070587;AK022593;AK302839;AL133153;AL135818;AL137353;AL833046;AMYH02029739;AMYH02029740;AMYH02029741;AMYH02029742;AMYH02029743;BC028565;BC032316;BC035914;BX248302;BX283171;CH471061;CR747498;CR998718;DC402942;DR006516;EG328265;KF455983;NG_033118;NM_001080414;XM_005267691;XM_005267692;XR_429316 AAH28565;AAH32316;AAH35914;ADZ15600;BAB14119;BAG64030;CAD62629;CAH10602;EAW81451;NP_001073883;Q9P219;XP_005267748;XP_005267749 Hs.525536 1656232;1731615;1736396;1777937;2139690;2148386;2150755;2154353;2169864 D14S169;D14S655E;FB17H5;G35614;G35778;G36140;SHGC-32353;SHGC-63659;WI-21906 FLJ00354;HYC;HkRP2;KIAA1509;SCA40 DAPLE;Dvl-associating protein with a high frequency of leucine residues;OTTHUMP00000245079;coiled-coil domain-containing protein 88C;hDaple;hook-related protein 2;spinocerebellar ataxia 40 protein-coding ENSG00000015133 HGNC:19967 236600;611204;616053 REVIEWED 1603873 CCDC96 coiled-coil domain containing 96 INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; amiodarone 4 4 4 p16.1 6945993 6948145 - 7042576 7044728 - 7040849 7043001 - 6480464 12477932;14702039;15489334;16344560;24250222 257236 Q2M329 ABBA01012736;AC097382;AK075056;AMYH02008678;BC105055;BC112274;BQ009685;CH471131;CQ783834;DB045256;NM_153376 AAI05056;AAI12275;ADR83062;BAC11373;CAF86884;EAW82373;NP_699207;Q2M329 Hs.656757 2187599 RH36525 FLJ90575;MGC138479 OTTHUMP00000155166;coiled-coil domain-containing protein 96 protein-coding ENSG00000173013 HGNC:26900 08297 VALIDATED 1602481 CCDC87 coiled-coil domain containing 87 ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN microtubule cytoskeleton organization (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); furan (ortholog) 11 11 q13.2 66357640 66360554 - 66590169 66593083 - 6480464;8554872 12477932;14702039;16189514;17643375;21926972;23443559;24250222 55231 Q9NVE4 ABBA01024072;AI391530;AK001648;AMYH02024979;AP001157;BC034469;NG_008733;NM_018219 AAH34469;BAA91808;NP_060689;Q9NVE4 Hs.121072 FLJ10786 OTTHUMP00000235517;coiled-coil domain-containing protein 87 protein-coding ENSG00000182791 HGNC:25579 07699 VALIDATED 7777261 CCER2 coiled-coil glutamate-rich protein 2 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular region (inferred) 19 19 19 q13.2 36202057 36205231 - 39399620 39402798 - 38908980 38912158 - 8554872 12805274;8889548 643669 I3L3R5;I3L3Z9 ABBA01040709;AC011455;AMYH02036083;AY270371;BM674447;BM717067;CB105023;EG328464;EG328465;NM_001243212;XM_006723326 I3L3R5;NP_001230141;XP_006723389 Hs.355357 coiled-coil domain-containing glutamate-rich protein 2;uncharacterized protein LOC643669 protein-coding ENSG00000262484 HGNC:44662 VALIDATED 1603867 CCDC88B coiled-coil domain containing 88B This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009] 11 11 11 q12.3 61433773 61451010 + 64107690 64125006 + 64340218 64357534 + 6480464;8554872 11230166;12477932;14667819;14702039;15882442;19946888;20936779;21289099;22837380;23128233 283234 A6NC98;B2RTU8;H7BY33 ABBA01003298;ABBA01003299;ABBA01003300;AK074126;AK090436;AK095289;AK126728;AL136799;AMYH02024934;AP003774;AY491401;BC030194;BC040232;BC140822;BC140824;BC141866;BC151218;BC151222;BE222756;NM_032251;XM_006718519;XM_006718520 A6NC98;AAH40232;AAI40823;AAI40825;AAI41867;AAR83719;BAB84952;BAC03417;CAB66733;NP_115627;XP_006718582;XP_006718583 Hs.98564 1769054;5109281;5119447 D1S1425;D20S984;G33078 BRLZ;CCDC88;DKFZp434G0920;FLJ00354;FLJ37970;HkRP3 78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stress;GRP78-interacting protein induced by ER stress;OTTHUMP00000042630;brain leucine zipper domain-containing protein;brain leucine zipper protein;coiled-coil domain containing 88;coiled-coil domain-containing protein 88B;gipie;hook-related protein 3 APPROVED protein-coding ENSG00000168071 HGNC:26757 10986 611205 REVIEWED 1604596 CCDC92 coiled-coil domain containing 92 ASSOCIATED WITH Melanoma (inferred); FOUND IN centriole; INTERACTS WITH atrazine; benzo[a]pyrene; copper(2+) sulfate 12 12 12 q24.31 124020731 124056999 - 124420955 124457373 - 123936408 123972826 - 6480464;8554872 12477932;14702039;15489334;16169070;17207965;19322201;19936222;20686565;20936779;22863007;24250222;8125298 80212 B3KNQ0;F5GXK2;F5H285;F5H2Z7;F5H7P8;Q53HC0 AB015292;ABBA01060388;AC068790;AC079315;AK026124;AK054680;AK124358;AK125866;AK222661;AMYH02027463;AMYH02027464;BC017186;CH471054;NM_025140;XM_005253624;XM_005253625;XM_006719611 AAH17186;ADQ32283;BAB15366;BAB82436;BAD96381;BAG51412;BAG54259;EAW98438;EAW98439;EAW98440;NP_079416;Q53HC0;XP_005253681;XP_005253682;XP_006719674 Hs.713131 1657279;1660601;1665799;1697910;1772200;1782522;2106787;2106789 A004O46;D12S2066;GC32S03;GC32S043;RH102483;SHGC-104021;STS-Z41302;WI-12482 FLJ22471 OTTHUMP00000239286;OTTHUMP00000239293;OTTHUMP00000239295;coiled-coil domain-containing protein 92;limkain beta 2;limkain beta-2 protein-coding ENSG00000119242 HGNC:29563 16919 PROVISIONAL 1602452 CCDC97 coiled-coil domain containing 97 INTERACTS WITH cadmium atom; copper(2+) sulfate; methyl methanesulfonate 19 19 19 q13.2 38616246 38630939 + 41816094 41830788 + 41310189 41324883 + 6480464 12477932;14702039;16055720;19692168;20360068;20936779;23602568;24250222 90324 M0QXS4;M0QZY6;Q96F63 ABBA01040803;AC011462;AK097586;AL833726;AMYH02036132;BC007575;BC011577;BC019597;CH471126;CS674264;CS805737;HC919734;HC919945;NM_052848;XM_005259377 AAH07575;AAH11577;CAH56251;CAP12292;CAP40173;CBN73464;CBN73469;EAW57030;EAW57031;NP_443080;Q96F63;XP_005259434 Hs.437497 1852267 WI-14864 FLJ40267;MGC20255 coiled-coil domain-containing protein 97 protein-coding ENSG00000142039 HGNC:28289 14467 PROVISIONAL 1606687 CCER1 coiled-coil glutamate-rich protein 1 INTERACTS WITH copper(2+) sulfate 12 12 12 q21.33 91017121 91020082 - 91345992 91348953 - 90952215 90955176 - 6480464 12477932;16189514;17967063 196477 H0YHB9;Q8TC90 ABBA01053409;AC078873;AMYH02026915;BC024183;BC026075;BC027600;BC034491;CH471054;HC006804;HC044817;NM_152638 AAH24183;AAH26075;AAH27600;AAH34491;CBH19208;CBH30738;EAW97443;NP_689851;Q8TC90 Hs.128574 1687427;1698356 RH102719;RH98621 C12orf12;MGC26598 OTTHUMP00000242884;coiled-coil domain-containing glutamate-rich protein 1;hypothetical protein LOC196477;uncharacterized protein C12orf12 APPROVED protein-coding ENSG00000197651 HGNC:28373 14505 PROVISIONAL 735565 CCKBR cholecystokinin B receptor This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6400020 6412407 + 6280841 6293363 + 6259611 6272127 + 1358454;1580863;2311323;1358452;2311333;2311332;4110816;4110823;4110829;4110821;4110822;1626108;6480464 12851875;1458479;15102523;15161757;15354400;15647484;15688412;15948246;16527403;8222074;8302799 10100325;10400698;10438490;10741470;10913157;11244486;11368834;11515749;11830556;11896205;11926817;12058027;12189558;12198366;12400008;12429993;12477932;12510010;12695525;12761477;12777967;1280419;12955087;14534299;14759564;15001623;15001692;15036586;15040018;15068617;15292208;15313848;15520004;15611055;15817487;15850403;15989082;16012719;16142371;16143134;16228228;16242076;16344560;16547500;16754659;16909104;16963136;16998832;17474147;17572695;17889508;17933865;17936921;17962809;18028338;18438722;18444993;18832011;18996102;19086053;19502590;19627395;19697327;19751565;19874574;19913121;20023595;20185366;20201926;20379614;20468064;20602615;20628086;20732371;20932834;21156802;21504585;21852362;22040601;22277584;22442157;22516348;22645275;23053898;23376640;23890582;23975374;24211650;24561123;24623766;7681836;7848914;7887934;8125298;8185170;8185642;8222757;8343165;8349705;8415658;8455720;8663021;8995203;9872672 887 E9PIC8;E9PJ49;E9PPL7;P32239 ABBA01028664;AC022762;AC068733;AF239668;AF441129;AK226020;AK292064;AK314266;AMYH02024265;AY029770;AY322551;BC000740;BT006789;CH471064;CX762706;D13305;D21219;DA297178;DQ335648;DQ335649;DQ335650;DQ335651;L04473;L07746;L08112;L10822;NG_030591;NM_176875;S70057;S76072;XM_005253210 AAA35657;AAA35660;AAA91831;AAB30766;AAB33740;AAC37528;AAF67174;AAH00740;AAK38351;AAN32829;AAP35435;AAP84364;ABC86718;ABC86719;ABC86720;ABC86721;ABM84663;ABM92194;BAA02564;BAA04759;BAF84753;EAW68734;EAW68735;NP_795344;P32239;XP_005253267 Hs.203 2179781 RH69002 CCK-B;CCK-BR;CCK2-R;CCK2R;GASR CCK-B receptor;CCK2 receptor;OTTHUMP00000164537;OTTHUMP00000229568;OTTHUMP00000229571;cholecystokinin-2 receptor;cholecystokinin-B receptor/gastrin receptor;gastrin receptor;gastrin/cholecystokinin type B receptor APPROVED protein-coding ENSG00000110148 HGNC:1571 00323 118445 REVIEWED 1343153 CCIN calicin The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 36102976 36104918 + 36165990 36171331 + 36169392 36171334 + 1580863;6480464;8554872 11090452;12477932;21832049;7641791 881 Q13939;Q8WWB2;Q8WX35 AA420997;ABBA01050434;AF333334;AK313763;AL158830;AMYH02019472;BC019251;CH471071;NM_005893;Z46967 AAH19251;AAK20829;ABM81752;ABM84906;ABM84908;ABW03306;BAG36501;CAA87088;EAW58313;EAW58314;NP_005884;Q13939 Hs.115460 2137098;2218348 CCIN_4526;RH71317 BTBD20;KBTBD14 OTTHUMP00000021373 APPROVED protein-coding ENSG00000185972 HGNC:1568 04907 603960 REVIEWED 1603642 CCDC93 coiled-coil domain containing 93 INTERACTS WITH all-trans-retinoic acid; bisphenol A; calcitriol 2 2 2 q14.1 112000384 112098933 - 118673054 118771739 - 117915478 118014163 - 6480464 11076863;12477932;14702039;15489334;15489336;15815621;16344560;16381901;17043677;21139048;21906983;22070227;22797925;24250222;24816145;8619474;9110174 54520 F8W9X7;H7C050;Q567U6 AB209993;ABBA01045944;ABBA01045945;AC009303;AC009404;AF070582;AK001858;AK025611;AK057926;AK124683;AK290722;AK309040;AL050001;AMYH02004634;AY726577;BC005078;BC012052;BC028609;BC080559;BC093018;BU621185;CH471103;DB084596;NM_019044;XM_006712597;XM_006712598;XM_006712599;XM_006712600 AAH28609;AAH93018;AAX88948;AAX88949;AAX93279;BAA91945;BAB15188;BAE06075;BAF83411;CAL38066;CAL38380;CAL38575;EAW95197;EAW95198;NP_061917;Q567U6;XP_006712660;XP_006712661;XP_006712662;XP_006712663 Hs.107845 1651386;1661116;1676924;1798342;1798378;1798560;1798802;1798882;1798942;1800812;1800936;1801036;1801090;1801544;1802924;1804358;1804794;1805802;1805962;1806366;1806424;1806646;1806836;1806896;1806898;1808536;1808672;1808978;1809094;1809334;1809644;1810202;1810364;1810500;1810866;1810938;1811086;1811552;1812044;1812114;1812656;1813026;1813892;1814220;1814712;1814714;1815558;1818684;1818950;1818952;1819268;1819338;1819742;1819940;1819942;1820424;1820564;1820862;1821082;1821218;1821346;1821970;1822042;1822044;1822186;1822320;1822614;1822920;1823144;1823196;1823608;1823770;1824200;1824510;1824822;1825152;1826342;1827250;1827502;1828908;1829714;1830082;1830142;1830494;1830756;1830956;1831004;1831654;1832178;1832962;1833386;1833696;1834572;1835154;1837576;1837774;1838018;1838650;1838764;1838896;1839744;1841348;1841826;1843412;1843842;1843934;1844244;1844772;1844816;1844972;1845456;1845868;1852888;1878532;1878534;1878536;1878538;1878540;1878542;1878544;1878546;1878548;1878550;1878552;1878554;1878556;1878558;1878560;1878562;1878564;1878566;1878568;1878570;1878572;1878574;1878576;1878578;1878580;1878582;1878584;1878586;1878588;1878590;1878592;1878594;1878596;1878598;1878600;1878602;1878604;1878606;1878608;1878610;1878612;1878614;1878616;1878618;1878620;1878622;1878624;1878626;1878628;1878630;1878632;1878634;1878636;1878638;1878640;1878642;1878644;1878646;1878648;1878650;1878652;1878654;1878656;1878658;1878660;1878662;1878664;1878666;1878668;1878670;1878672;1878674;1878676;1878678;1878680;1878682;1878684;1878686;1878688;1878690;1878692;1878694;1878696;1878698;1878700;1878702;1878704;1878706;1878708;1878710;1878712;1878714;1878716;1878718;1878720;1878722;1878724;1878726;1878728;1878730;1878732;1878734;1878736;1878738;1878740;1878742;1878744;1878746;1878748;1878750;1878752;1878754;1878756;1878758;1878760;1878762;1878764;1878766;1878768;1878770;1878772;1878774;1878776;1878778;1878780;1878782;1878784;1878786;1878788;1878790;1878792;1878794;1878796;1878798;1878800;1878802;1878804;1878806;1878808;1878810;1878812;1878814;1878816;1878818;1878820;1878822;1878824;1878826;1878828;1878830;1878832;1878834;1878836;1878838;1878840;1878842;1878844;1878846;1878848;1878850;1878852;1878854;1878856;1878858;1878860;1878862;1878864;1878866;1878868;1878870;1878872;1878874;1878876;1878878;1878880;1878882;1878884;1878886;1878888;1878890;1878892;1878894;1878896;1878898;1878900;1878902;1878904;1878906;1878908;1878910;1878912;1878914;1878916;1878918;1878920;1878922;1878924;1878926;1878928;1878930;1878932;1878934;1878936;1878938;1878940;1878942;1878944;1878946;1878948;1878950;1878952;1878954;1878956;1878958;1878960;1878962;1878964;1878966;1878968;1878970;1878972;1878974;1878976;1878978;1878980;1878982;1878984;1878986;1878988;1878990;1878992;1878994;1878996;1878998;1879000;1879002;1879004;1879006;1879008;1879010;1879012;1879014;1879016;1879018;1879020;1879022;1879024;1879026;1879028;1879030;1879032;1879034;1879036;1879038;1879040;1879042;1879044;1879046;1879048;1879050;1879052;1879054;1879056;1879058;1879060;1879062;1879064;1879066;1879068;1879070;1879072;1879074;1879076;1879078;1879080;1879082;1879084;1879086;1879088;1879090;1879092;1879094;1879096;1879098;1879100;1879102;1879104;1879106;1879108;1879110;1879112;1879114;1879116;1879118;1879120;1879122;1879124;1879126;1879128;1879130;1879132;1879134;1879136;1879138;1879140;1879142;1879144;1879146;1879148;1879150;1879152;1879154;1879156;1879158;1879160;1879162;1879164;1879166;1879168;1879170;1879172;1879174;1879176;1879178;1879180;1879182;1879184;1879186;1879188;1879190;1879192;1879194;1879196;1879198;1879200;1879202;1879204;1879206;1879208;1879210;1879212;1879214;1879216;1879218;1879220;1879222;1879224;1879226;1879228;1879230;1879232;1879234;1879236;1879238;1879240;1879242;1879244;1879246;1879248;1879250;1879252;1879254;1879256;1879258;1879260;1879262;1879264;1879266;1879268;1879270;1879272;1879274;1879276;1879278;1879280;1879282;1879284;1879286;1879288;1879290;1879292;1879294;1879296;1879298;1879300;1879302;1879304;1879306;1879308;1879310;1879312;1879314;1879316;1879318;1879320;1879322;1879324;1879326;1879328;1879330;1879332;1879334;1879336;1879338;1879340;1879342;1879344;1879346;1879348;1879350;1879352;1879354;1879356;1879358;1879360;1879362;1879364;1879366;1879368;1879370;1879372;1879374;1879376;1879378;1879380;1879382;2119624;2131122;2199714;2199716;2199718;2199720;2199722;2199724;2199726;2199728;2199730;2199732;2199734;2199736;2199738;2199740;2199742;2199744;2199746;2199748;2199750;2199752;2199754;2199756;2199758;2199760;2199762;2199764;2199766;2199768;2199770;2199772;2199774;2199776;2199778;2199780;2199782;2199784;2199786;2199788;2199790;2199792;2199794;2199796;2199798;2199800;2199802;2199804;2199806;2199808;2199810;2199812;2199814;2199816;2199818;2199820;2199822;2199824;2199826;2199828;2199830;2199832;2199834;2199836;2199838;2199840;2199842;2199844;2199846;2199848;2199850;2199852;2199854;2199856;2199858;2199860 A004X42;ECD00006;ECD00025;ECD00119;ECD00241;ECD00281;ECD00312;ECD01268;ECD01333;ECD01385;ECD01414;ECD01650;ECD02351;ECD03103;ECD03330;ECD03852;ECD03934;ECD04138;ECD04168;ECD04280;ECD04383;ECD04413;ECD04414;ECD05250;ECD05318;ECD05472;ECD05535;ECD05658;ECD05814;ECD06093;ECD06174;ECD06243;ECD06431;ECD06467;ECD06541;ECD06779;ECD07027;ECD07062;ECD07338;ECD07532;ECD07973;ECD08139;ECD08387;ECD08388;ECD08815;ECD10406;ECD10540;ECD10541;ECD10701;ECD10736;ECD10941;ECD11041;ECD11042;ECD11287;ECD11357;ECD11507;ECD11618;ECD11686;ECD11756;ECD12071;ECD12107;ECD12108;ECD12179;ECD12248;ECD12395;ECD12548;ECD12660;ECD12687;ECD12896;ECD12977;ECD13197;ECD13353;ECD13510;ECD13677;ECD14284;ECD14740;ECD14867;ECD15581;ECD15989;ECD16174;ECD16204;ECD16382;ECD16514;ECD16614;ECD16638;ECD16964;ECD17227;ECD17622;ECD17836;ECD17993;ECD18434;ECD18732;ECD19955;ECD20057;ECD20180;ECD20499;ECD20560;ECD20627;ECD21055;ECD21870;ECD22114;ECD22915;ECD23132;ECD23179;ECD23335;ECD23602;ECD23624;ECD23702;ECD23946;ECD24153;REN10000;REN10001;REN10002;REN10003;REN10004;REN10005;REN10006;REN10007;REN10008;REN10009;REN10010;REN10011;REN10012;REN10013;REN10014;REN10015;REN10016;REN10017;REN10018;REN10019;REN10020;REN10021;REN10022;REN10023;REN10024;REN10025;REN10026;REN10027;REN10028;REN10029;REN10030;REN10031;REN10032;REN10033;REN10034;REN10035;REN10036;REN10037;REN10038;REN10039;REN10040;REN10041;REN10042;REN10043;REN10044;REN10045;REN10046;REN10047;REN10048;REN10049;REN10050;REN10051;REN10052;REN10053;REN10054;REN10055;REN10056;REN10057;REN10058;REN10059;REN10060;REN10061;REN10062;REN10063;REN10064;REN10065;REN10066;REN10067;REN10068;REN10069;REN10070;REN10071;REN10072;REN10073;REN10074;REN10075;REN10076;REN10077;REN10078;REN10079;REN10080;REN10081;REN10082;REN10083;REN10084;REN10085;REN10086;REN10087;REN10088;REN10089;REN10090;REN10091;REN10092;REN10093;REN10094;REN10095;REN10096;REN10097;REN10098;REN10099;REN10100;REN10101;REN10102;REN10103;REN10104;REN10105;REN10106;REN10107;REN10108;REN10109;REN10110;REN10111;REN10112;REN10113;REN10114;REN10115;REN10116;REN10117;REN10118;REN10119;REN10120;REN10121;REN10122;REN10123;REN10124;REN10125;REN10126;REN10127;REN10128;REN10129;REN10130;REN10131;REN10132;REN10133;REN10134;REN10135;REN10136;REN10137;REN10138;REN10139;REN10140;REN10141;REN10142;REN10143;REN10144;REN10145;REN10146;REN10147;REN10148;REN10149;REN10150;REN10151;REN10152;REN10153;REN10154;REN10155;REN10156;REN10157;REN10158;REN10159;REN10160;REN10161;REN10162;REN10163;REN10164;REN10165;REN10166;REN10167;REN10168;REN10169;REN10170;REN10171;REN10172;REN10173;REN10174;REN10175;REN10176;REN10177;REN10178;REN10179;REN10180;REN10181;REN10182;REN10183;REN10184;REN10185;REN10186;REN10187;REN10188;REN10189;REN10190;REN10191;REN10192;REN10193;REN10194;REN10195;REN10196;REN10197;REN10198;REN10199;REN10200;REN10201;REN10202;REN10203;REN10204;REN10205;REN10206;REN10207;REN10208;REN10209;REN10210;REN10211;REN10212;REN10213;REN10214;REN10215;REN10216;REN10217;REN10218;REN10219;REN10220;REN10221;REN10222;REN10223;REN10224;REN10225;REN10226;REN10227;REN10228;REN10229;REN10230;REN10231;REN10232;REN10233;REN10234;REN10235;REN10236;REN10237;REN10238;REN10239;REN10240;REN10241;REN10242;REN10243;REN10244;REN10245;REN10246;REN10247;REN10248;REN10249;REN10250;REN10251;REN10252;REN10253;REN10254;REN10255;REN10256;REN10257;REN10258;REN10259;REN10260;REN10261;REN10262;REN10263;REN10264;REN10265;REN10266;REN10267;REN10268;REN10269;REN10270;REN10271;REN10272;REN10273;REN10274;REN10275;REN10276;REN10277;REN10278;REN10279;REN10280;REN10281;REN10282;REN10283;REN10284;REN10285;REN10286;REN10287;REN10288;REN10289;REN10290;REN10291;REN10292;REN10293;REN10294;REN10295;REN10296;REN10297;REN10298;REN10299;REN10300;REN10301;REN10302;REN10303;REN10304;REN10305;REN10306;REN10307;REN10308;REN10309;REN10310;REN10311;REN10312;REN10313;REN10314;REN10315;REN10316;REN10317;REN10318;REN10319;REN10320;REN10321;REN10322;REN10323;REN10324;REN10325;REN10326;REN10327;REN10328;REN10329;REN10330;REN10331;REN10332;REN10333;REN10334;REN10335;REN10336;REN10337;REN10338;REN10339;REN10340;REN10341;REN10342;REN10343;REN10344;REN10345;REN10346;REN10347;REN10348;REN10349;REN10350;REN10351;REN10352;REN10353;REN10354;REN10355;REN10356;REN10357;REN10358;REN10359;REN10360;REN10361;REN10362;REN10363;REN10364;REN10365;REN10366;REN10367;REN10368;REN10369;REN10370;REN10371;REN10372;REN10373;REN10374;REN10375;REN10376;REN10377;REN10378;REN10379;REN9953;REN9954;REN9955;REN9956;REN9957;REN9958;REN9959;REN9960;REN9961;REN9962;REN9963;REN9964;REN9965;REN9966;REN9967;REN9968;REN9969;REN9970;REN9971;REN9972;REN9973;REN9974;REN9975;REN9976;REN9977;REN9978;REN9979;REN9980;REN9981;REN9982;REN9983;REN9984;REN9985;REN9986;REN9987;REN9988;REN9989;REN9990;REN9991;REN9993;REN9994;REN9995;REN9996;REN9997;REN9998;REN9999;RH11708;RH75451;SHGC-33355;STS-AA018412;WI-14026;stSG618922;stSG618923;stSG618924;stSG618925;stSG618926;stSG618927;stSG618928;stSG618929;stSG618930;stSG618931;stSG618932;stSG618933;stSG618934;stSG618937;stSG618938;stSG618939;stSG618940;stSG618941;stSG618942;stSG618943;stSG618944;stSG618945;stSG618946;stSG618947;stSG618948;stSG618949;stSG618950;stSG618951;stSG618952;stSG618953;stSG618954;stSG618955;stSG618956;stSG618957;stSG618958;stSG618960;stSG618961;stSG618962;stSG618963;stSG618964;stSG618965;stSG618966;stSG618967;stSG618968;stSG618969;stSG618970;stSG618971;stSG618972;stSG618974;stSG618975;stSG618976;stSG618977;stSG618978;stSG618979;stSG618980;stSG618981;stSG618982;stSG618983;stSG618984;stSG618985;stSG618986;stSG618987;stSG618988;stSG618989;stSG618990;stSG618991;stSG618992;stSG618993;stSG618994;stSG618995;stSG618996;stSG618997;stSG618998;stSG619000 FLJ10996;FLJ25197;MGC13033 OTTHUMP00000064463;OTTHUMP00000180677;coiled-coil domain-containing protein 93 protein-coding ENSG00000125633 HGNC:25611 08557 VALIDATED 1344859 CCHCR1 coiled-coil alpha-helical rod protein 1 INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); protein export from nucleus (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN centriole; cytoplasm; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; elemental selenium 6 6 6 p21.3 32710440 32726241 - 31110216 31126015 - 31142439 31158238 - 6480464;8554872 10545595;10888604;11348465;11875053;12023963;12477932;12909641;14675183;14702039;15146197;15214895;15539411;15654960;16141233;16713569;17179747;17221218;17340018;17530646;18029348;18174193;18305892;19242354;19551138;19851445;19915573;20379614;21139048;21738480;21743467;21810746;21890473;21906983;21912425;21988832;22182809;23144326;23189171;23263863;23955597;24250222;7566098 54535 A2ABH0;A2ABH1;A2ABH3;A2ABH4;A2ABH5;B0S7V6;B0V092;B4DIA2;D2IYK9;D6R9W9;D6RA02;D6RAE7;D6RB88;D6RBG1;D6RD84;D6RDI7;D6RE89;E7EPK4;E7EQC5;E7EQE8;E9PGB6;E9PHV1;M1T2K8;M1TIV4;Q2TB68;Q5STF0;Q769H0;Q8TD31 AA356205;AB029331;AB029343;AB088104;AB112474;AB112475;AB202104;ABBA01038068;ABBA01038069;AC004195;AF216493;AK000204;AK000217;AK000533;AK289446;AK295494;AK310626;AL662833;AL662844;AL773544;AMYH02013443;AMYH02013444;AMYH02013445;AY029160;BA000025;BC110534;BC110535;BX927139;CH471081;CN428429;CR457227;CR753819;CR759815;CR847794;DC357362;NM_001105563;NM_001105564;NM_019052;XM_005272832;XM_005272833;XM_005272835;XM_005272836;XM_005272839;XM_005272840;XM_005274987;XM_005274988;XM_005274990;XM_005274991;XM_005274994;XM_005274995;XM_005275137;XM_005275140;XM_005275265;XM_005275269;XM_005275422;XM_005275423;XM_006715119;XM_006725488;XM_006725702;XM_006725819;XM_006725911;XM_006726003;XM_006726004 AAF74221;AAI10535;AAI10536;AAK55759;BAA81890;BAA82158;BAA91007;BAA91016;BAA91236;BAB63313;BAC54937;BAD05130;BAD05131;BAE78628;BAF82135;BAG58414;CAG33508;EAX03361;EAX03362;NP_001099033;NP_001099034;NP_061925;Q8TD31;XP_005272889;XP_005272890;XP_005272892;XP_005272893;XP_005272896;XP_005272897;XP_005275044;XP_005275045;XP_005275047;XP_005275048;XP_005275051;XP_005275052;XP_005275194;XP_005275197;XP_005275322;XP_005275326;XP_005275479;XP_005275480;XP_006715182;XP_006725551;XP_006725765;XP_006725882;XP_006725974;XP_006726066;XP_006726067 Hs.485075 1768963;1790855;1790857;2181757;2191569 D6S2687;D6S2688;MARC_26584-26585:1033750163:1;RH46639;WI-15384 C6orf18;HCR;MGC126371;MGC126372;SBP;pg8 HCR (a-helix coiled-coil rod homologue);OTTHUMP00000029150;OTTHUMP00000165080;OTTHUMP00000165081;OTTHUMP00000165085;OTTHUMP00000165088;StAR-binding protein;alpha-helical coiled-coil rod protein;putative gene 8 protein protein-coding ENSG00000204536 HGNC:13930 05607 605310 VALIDATED 1345074 CCL12 chemokine (C-C motif) ligand 12 337987 AF065934 HGNC:19148 1353511 CCL1 chemokine (C-C motif) ligand 1 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014] 17 17 17 q12 29597629 29600463 - 32687347 32690252 - 34360328 34363233 - 1580863;4891410;4891418;4891422;4891420;4145109;4145441;4891417;4891408;4891409;4891412;4891421;6480464;8693624 11134301;11157384;12600821;12707363;16864713;17982926;18703681;19057661;20455898;20598643 10409433;10648464;10821677;10942748;10985253;11076863;11133740;11818437;12393595;12477932;12489497;12645948;12949249;12967681;14630801;15340161;15489334;1557400;15814739;15989956;16344560;16540498;16679317;16735693;17122780;17641040;17672898;17693327;17703412;17845580;19117730;19258923;19372141;19423540;19776237;19865101;20056178;20237496;20406964;20438785;20503287;21849907;2212659;22147355;22412388;22479563;22948508;23333304;23811304;23878309;2809212;8077676;9211859;9417093 6346 P22362;Q76BR7 AB110829;ABBA01011215;AC011193;AK312183;AMYH02033336;BC105073;BC105075;CH471147;DA620119;HI574344;M57502;M57506;NM_002981 AAA52705;AAA61196;AAI05074;AAI05076;AAI11915;BAC98367;BAG35116;CBX47661;EAW80204;NP_002972;P22362 Hs.72918 1673077;1733398;1745477 D17S1270;D17S1677;GDB:607775 I-309;P500;SCYA1;SISe;TCA3 C-C motif chemokine 1;OTTHUMP00000163800;T lymphocyte-secreted protein I-309;inflammatory cytokine I-309;small inducible cytokine A1 (I-309, homologous to mouse Tca-3);small-inducible cytokine A1 APPROVED protein-coding ENSG00000108702 HGNC:10609 01654 182281 REVIEWED 731770 CCKAR cholecystokinin A receptor This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008] 4 4 4 p15.2 26934075 26943099 - 26483018 26492042 - 26481396 26490420 - 1625802;1580863;1625200;1358451;734711;2314139;4110816;4110818;4110822;4110817;6480464;7257724;8554872 10457335;10572328;12777967;12851875;15908333;16815799;8222074;9192855;9239407;9530226 10026437;10400673;10555959;10595537;10682840;10893485;11300760;11368834;11495676;11549403;11730982;12198366;12424565;12477932;12627462;12801592;14534299;14691070;15100163;15108185;15313848;15340101;15363473;15489334;15632187;15634012;15723764;15740988;15786550;15927089;16362631;16754659;17413443;17413452;17457313;17597711;17944886;18444993;18577758;18583979;18776046;18832011;18996102;19086053;19751565;19753663;19760980;19874574;19913121;20023595;20351714;20424473;20468064;20535329;20538960;20558763;20602615;20628086;20732371;21728335;21813391;22021636;22396142;22825913;23341962;23701593;7557108;7759110;8343165;8503909;9006937;9603948 886 P32238 ABBA01032727;AC093637;AK313978;AMYH02008927;AY322549;BC074987;CH471069;D85606;L13605;L19315;NG_012053;NM_000730;U23430 AAA02819;AAA35659;AAA91123;AAH74987;AAP84362;BAA90879;BAG36692;EAW92850;NP_000721;P32238 Hs.129 1851913;1852921;2149104 D4S3157;SHGC-50173;STS-L19315 CCK-A;CCK-AR;CCK1-R;CCK1R;CCKRA CCK-A receptor;OTTHUMP00000158717;cholecystokinin receptor type A;cholecystokinin type-A receptor;cholecystokinin-1 receptor APPROVED protein-coding ENSG00000163394 HGNC:1570 00322 118444 REVIEWED 737505 CCK cholecystokinin Cholecystokinin is a brain/gut peptide. In the gut, it induces the release of pancreatic enzymes and the contraction of the gallbladder. In the brain, its physiologic role is unclear. The cholecystokinin pro-hormone is processed by endo- and exo-proteolytic cleavages. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] 3 3 3 p22.1 42238692 42247029 - 42299315 42307662 - 42257826 42266170 - 1625798;1358450;1625802;1625799;1626086;1580863;2313635;2313638;2313636;1626108;6480464 10668930;12777967;15536283;15647484;16989746;17157334;17443025;8988922;9754694 10320330;10400673;10438490;10595537;11025367;11076522;11140838;11232009;11278902;11300760;11368834;11443535;11509018;11713976;11713982;11713985;11724786;11803530;12065614;12116180;12116188;12198366;12477932;12479974;12572876;12627463;12695525;12789687;12915664;12920059;1370477;14764444;15001692;15068617;15100163;15152034;15313848;15328192;15354400;15374756;15489334;15520004;15533776;15624269;15682471;15740988;15743365;15837012;16185316;16712791;16754659;17192493;17208296;17332474;17365745;17438102;17964616;18066654;18154642;18234641;18396340;18423848;18555802;18577758;18996102;19058789;19086053;19339394;19497313;19741117;19760980;19874574;19914303;20023595;20036221;20424473;20457200;20468064;20602615;20732371;20734064;20930049;21139048;21154912;21186400;21506165;21542221;21753024;21985915;22188045;22344221;23064014;23233532;23349895;23564449;24001751;24177032;24252886;24348519;24692543;3011648;3582983;3856870;6288173;6529856;8804068;9006937;9275097;9399627;9603948 885 P06307;Q6FG82 ABBA01024771;AC018358;AK289716;AMYH02006625;AY514491;BC008283;BC093055;BC111026;BT006991;CB154424;CB961869;CD250282;CH471055;CR542226;L00354;L29399;L29400;NM_000729;NM_001174138 AAA53094;AAH08283;AAH93055;AAI11027;AAP35637;AAR89908;ABM92185;ABW03280;ABW03283;BAF82405;CAG47022;EAW64644;EAW64645;NP_000720;NP_001167609;P06307 Hs.458426 1741425;1794326;1855866 GDB:181198;PMC311033P1;SHGC-76858 MGC117187 OTTHUMP00000209368;OTTHUMP00000209369;cholecystokinin triacontatriapeptide;prepro-cholecystokinin APPROVED protein-coding ENSG00000187094 HGNC:1569 00321 118440 REVIEWED 1352726 CCL16 chemokine (C-C motif) ligand 16 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 31213091 31218079 - 34303529 34310373 - 35976493 35982360 - 1580863;6480464;8554872 10213461;10235110;10671294;10910894;11470772;12477932;14525962;15001559;15034014;15265943;15489334;16226254;17122780;17703412;18240029;18577758;19258923;19494526;20237496;20503287;21288736;21951809;22857868;2834384;8661057;9545580;9596672;9642106 6360 O15467 AB007454;AB018249;ABBA01011242;AC004675;AC244100;AF039954;AF039955;AF055467;AF088219;BC096352;BC099662;BC099663;BC099664;CH471147;NM_004590;U91746;XM_005258020;XM_006725334 AAC05587;AAC28844;AAC63330;AAC97450;AAC97451;AAH99662;BAA24057;BAA35138;EAW80114;NP_004581;O15467;XP_005258077;XP_006725397 Hs.10458 1684076;2178132;5015619;5015861;5020946;5022651;5024756;5037552;7185938 D10S16;D11S2921;D11S3114;D17S2005;D8S2279;L17971;RH80030;RH98255 CKb12;HCC-4;LCC-1;LEC;LMC;MGC117051;Mtn-1;NCC-4;NCC4;SCYA16;SCYL4 C-C motif chemokine 16;IL-10-inducible chemokine;ILINCK;OTTHUMP00000163951;chemokine CC-4;chemokine LEC;liver CC chemokine-1;liver-expressed chemokine;lymphocyte and monocyte chemoattractant;monotactin-1;new CC chemokine 4;small inducible cytokine subfamily A (Cys-Cys), member 16;small-inducible cytokine A16 APPROVED protein-coding ENSG00000275152 HGNC:10614 03233 601394 REVIEWED 1349365 CCL17 chemokine (C-C motif) ligand 17 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Sep 2014] 16 16 16 q13 41938673 41949969 + 57438679 57449974 + 57404767 57416062 + 1580863;1626251;2306304;4145487;4145603;4145489;4145606;4145614;4145513;4145517;4145486;4145491;4145515;4145612;4145494;4145495;4145500;4145604;4145498;4145488;4145602;6480464;6484113 11160256;11956056;15293604;15466387;15491423;15947487;15993846;16387607;17517104;17641031;17898016;17949965;18026571;18276722;18684970;18785972;19715610;20071465;20074456;20237293 10493829;10540332;10737800;11468146;12104083;12126650;12193695;12390321;12413771;12441140;12456591;12477932;12485447;12499558;12615362;12615364;12642832;12715916;12832759;12871855;12949249;13679391;14677179;14734737;14747532;14767451;14962085;15047814;15067078;15113590;15335355;15474066;15489334;15500644;15813816;15944327;15955100;16583210;16859899;17023689;17546636;17548604;17565019;17703412;17967467;17979978;18004070;18191727;18224687;18266834;18271928;18375080;18395252;18435706;18547160;18691306;18824549;18937546;19005490;19088500;19236603;19258923;19371952;19421847;19639049;20002703;20237496;20374230;20503287;20625996;20669282;20800454;21129807;21707761;22017510;22058214;22322668;22533972;22775568;22981793;23224400;23225085;23340773;23454147;23649168;23731651;23782855;23942559;24582560;8702936;9070951;9169480;9430724;9521068;9691168;9743322 6361 Q92583 ABBA01025270;AC004382;AC009052;AMYH02032107;BC069107;BC112066;BC112068;BE061171;CH471092;D43767;EF064767;NM_002987 AAC24308;AAH69107;AAI12067;AAI12069;ABK41950;BAA07824;EAW82921;NP_002978;Q92583 Hs.546294 1688150;2129175 RH66539;RH80761 A-152E5.3;ABCD-2;MGC138271;MGC138273;SCYA17;TARC C-C motif chemokine 17;CC chemokine TARC;OTTHUMP00000164673;T cell-directed CC chemokine;small inducible cytokine subfamily A (Cys-Cys), member 17;small-inducible cytokine A17;thymus and activation-regulated chemokine APPROVED protein-coding ENSG00000102970 HGNC:10615 03309 601520 REVIEWED 6904431 CCL15-CCL14 CCL15-CCL14 readthrough (NMD candidate) A cluster of CC chemokine genes exists on chromosome 17q11.2. The CC chemokines are secreted proteins characterized by two adjacent cysteines. The genes chemokine (C-C motif) ligand 14 and chemokine (C-C motif) ligand 15 are adjacent loci and express read-through transcripts spanning both loci. The read-through transcripts were originally interpreted as bicistronic transcripts, but they are represented as non-coding because they are candidates for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Dec 2009] 17 17 17 q12 31220248 31238646 - 34310692 34329084 - 35983656 36002038 - 6480464;8554872 10213461;11527984;12477932;20967262;8661057;9600961 348249 ABBA01011242;AC004675;AC069363;AC244100;BC140941;NR_027921;NR_027922;Z70292;Z70293 AAI40942 1337007;1745465;1745467;1773201;1776363 D17S758;GDB:607751;GDB:607754;RH12877;STS-H22017 APPROVED ncrna HGNC:44436 VALIDATED 1351854 CCL11 chemokine (C-C motif) ligand 11 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq, Sep 2014] 17 17 17 q12 29522500 29525011 + 32612687 32615199 + 34285668 34288180 + 1580863;2307177;2307196;4145448;4140459;4145411;4145415;4145432;4145451;4145457;4145479;4145482;4145442;4145450;2307108;4891485;4145387;4145393;4145395;4145392;4145441;4145443;4145445;4145455;4145458;4145460;4891487;4145452;4145462;4145389;4145437;4145439;4145477;4145447;4145461;4145472;4145481;4145471;5130930;6480464;6484113;6907045;7240710;7247743;5683918;7247742;7248410;7248413;7248417;7247740;7247741;7247739;7248411;7248414;7248412;7248408;7248409;7248415;7248416;8699517;8554872 10415058;10595930;10861753;10955955;11290805;11564646;11877329;11991282;12600821;12682842;12707338;12750406;15181185;15236177;15673311;15681407;15823807;16120080;16168564;16251415;16304252;16314464;16765544;17060636;17074272;17297249;17620002;17845580;17983873;17999785;18250471;18595729;19296494;19865101;19925666;20644177;20656925;20704746;20832583;20841614;21113841;21652218;21952467;22160777;22176730;22427838;22778179;22932891;23049540;23089405;23893332;9034156;9665468;9892814 10072545;10201960;10415069;10477718;10642580;10706854;10708591;10734104;11264152;11390394;11742272;11884459;11966763;12065904;12082592;12192108;12193745;12234713;12370400;12392390;12393570;12477932;12884299;12915771;12916705;12949249;14571188;14725564;14733956;15067078;15186951;15207712;15223611;15389872;15489334;15537425;15661912;16029496;16169070;16184405;16391516;16461130;16510147;16517749;16864713;16872505;16874958;16879311;17016617;17220216;17438849;17438850;17541284;17672898;17703412;17827376;18055844;18203973;18275857;18312459;18312691;18380907;18398743;18515987;18523302;18699931;18712274;18714023;18844613;18950617;18971287;18974840;18981162;19028820;19056482;19131662;19247692;19258923;19263529;19264973;19338989;19351767;19423540;19479237;19522186;19525930;19559392;19578796;19729601;19913121;19937162;19948975;20056178;20227754;20236835;20237496;20306659;20406964;20438785;20444156;20503287;20505746;20536507;20603037;20628086;20628624;20934424;21052690;21077277;21368236;21406396;21601544;21825098;21900206;22114952;22271279;22412388;22773402;22775568;22846146;23049769;23059958;23061798;23114905;23128233;23149666;23180368;23477905;23496801;23532518;23679817;23820464;23904440;24273921;24482230;24600981;25080789;8597956;8609214;8631813;8642344;8674119;8676064;8780731;9169149;9299399;9405404;9558100;9578468;9712872 6356 P51671;Q6I9T4 AB063614;AB063616;ABBA01011212;AC005549;AI446061;AMYH02033336;BC017850;BF197516;CH471147;CR457421;EF064768;NG_012212;NM_002986;U34780;U46572;U46573;Z69291;Z75668;Z75669;Z92709 AAA98957;AAC50369;AAC51297;AAH17850;ABK41951;ABM82895;ABM86084;CAA93258;CAA99997;CAA99998;CAB07027;CAG33702;EAW80209;NP_002977;P51671 Hs.54460 1690988;2217112 CCL11_2928;RH75873 MGC22554;SCYA11 C-C motif chemokine 11;OTTHUMP00000163793;eosinophil chemotactic protein;eotaxin;eotaxin-1;small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin);small-inducible cytokine A11 APPROVED protein-coding ENSG00000172156 HGNC:10610 03098 600807;601156;609423 REVIEWED 1321539 CCL15 chemokine (C-C motif) ligand 15 This gene is located in a cluster of similar genes in the same region of chromosome 17. These genes encode CC cytokines, which are secreted proteins characterized by two adjacent cysteines. The product of this gene is chemotactic for T cells and monocytes, and acts through C-C chemokine receptor type 1 (CCR1). The proprotein is further processed into numerous smaller functional peptides. Naturally-occurring readthrough transcripts occur from this gene into the downstream gene, CCL14 (chemokine (C-C motif) ligand 14). [provided by RefSeq, Jan 2013] 17 17 17 q11.2 31234218 31238646 - 34323476 34329084 - 35997582 36002038 - 1580863;6480464 10202040;10213461;10320325;10604595;11527984;11832479;11888507;11943214;12477932;12759139;14984572;15001559;15179048;15251437;15340161;15894113;15905581;16034099;16341674;16364464;16737685;17296613;17703412;18587271;19203252;19220835;19258923;19669929;19812544;20016943;20126378;20237496;20379614;20503287;20616008;22092970;22147696;22279551;23383108;23690481;8661057;9129202;9346309;9548457;9558365;9600961;9624581 6359 Q16663 ABBA01011242;AC004675;AC069363;AC244100;AF031587;AF088219;AI244164;BX098368;BX497188;CH471147;NM_032965;U58914 AAB94617;AAC63328;AAD10847;EAW80110;EAW80111;EAW80112;EAW80113;NP_116741;Q16663 Hs.272493 1337007;1745467;1773201 D17S758;GDB:607754;RH12877 HCC-2;HMRP-2B;LKN1;Lkn-1;MIP-1 delta;MIP-1d;MIP-5;MRP-2B;NCC-3;NCC3;SCYA15;SCYL3;SY15 C-C motif chemokine 15;CC chemokine 3;OTTHUMP00000163955;chemokine CC-2;leukotactin 1;leukotactin-1;macrophage inflammatory protein 5;new CC chemokine 3;small inducible cytokine subfamily A (Cys-Cys), member 15;small-inducible cytokine A15 APPROVED protein-coding ENSG00000275718 HGNC:10613 03232 601393 VALIDATED 1353724 CCL13 chemokine (C-C motif) ligand 13 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq, Sep 2014] 17 17 17 q11.2 29593701 29595859 + 32683471 32685629 + 34356452 34358610 + 1580863;6480464;8549496;8549575;8548856;8548882;2316760;8548896;2307143;2307055;8549464;8549473;8549729;8548855;8549513;8549576;8548884;8548890;8549532;2298858;8549485;8548878;8549481;8549488;4145614;8549459;8549567;8549625;8549633;8548881;8549519;8548839;8548840;8549479;8549642;8548873;8549548;8548831;8548851;8549487;8548832;8548858;6480432;8549580;8549739;8548848;2307005;7829760;8549494;8549535;8549542;8549543;8549573;8549577;8549578;8549645;8549648;8549649;8549730;1358455;8548844;8548845;8549472;8549477;8548850;8549740;8549743;8549770;8549771;8549774;8548843;8548846;2307059;2307015;7401235;8549511;1358456;1581155;1581156;1581157;1581158;1581161;1581162;1581163;2301862;2306979;2306980;2306981;2306982;2306983;2306984;2306985;2306986;2306988;2306989;2306990;2306991;2306992;2306993;2306995;2306998;2306999;2307000;2307001;2307002;2307003;2307004;2307006;2307008;2307009;2307010;2307014;2307016;2307024;2307029;2307033;2307038;2307041;2307043;2307046;2307053;2307054;2307057;2307114;2307141;2307145;2307147;2307176;2307195;4142853;4143275;4145112;4145441;4145509;4891425;4891427;4891428;4891429;4891433;4891439;4891442;4891443;4891450;4891451;4891453;4891456;4891458;4891459;4891460;4891461;4891466;5135051;5135284;5683876;6218988;8549475;8549616;2307052;8549495;8549547;8549627;8549732;8548888;8548879;8549483;8661671;8655962;8661717;8657365;8661224;8661733 10068207;10411686;10844611;10908159;11241588;11317664;11472393;11486244;12080327;12098510;12223446;12239249;12507779;12600821;12605265;12712358;12925209;12950323;14566334;14611812;14638441;14662900;14967845;15034225;15041200;15109911;15308783;15492853;15573249;15627719;15742444;15793719;15823270;15882261;16116069;16224495;16273763;16280979;16284287;16297799;16697654;16698015;16710171;16832247;16844401;16891764;16997857;17052673;17081714;17180354;17284607;17304115;17314328;17389519;17591667;17666800;17803693;17876613;17898087;17922026;17950261;17964702;17968528;17977907;17982227;17989143;18031723;18087711;18093596;18167211;18284633;18292571;18297440;18388116;18419759;18433541;18459941;18459944;18469848;18473828;18475188;18482727;18555988;18642776;18690297;18702087;18726678;18753699;18762729;18806609;18958307;18976114;19059387;19060786;19087668;19092169;19097668;19111613;19118698;19139725;19144177;19164781;19210118;19260320;19369290;19373627;19401162;19409809;19515386;19553621;19615053;19617401;19629725;19648283;19762564;19782713;20042590;20056091;20071465;20111728;20205697;20396927;20404807;20438838;20497022;20618689;20737477;20813992;20833968;20855682;20921064;20937997;20966041;20967263;21049277;21095018;21268133;21285114;21487414;21712071;21767135;21850157;21894146;22066978;22172228;22466130;22531750;22564672;22721162;22983634;23549806;24142887;24631631;7525714;7860708;8231108;8283136;8558841;8774140;8903512;9042155;9270493;9404715;9426952;9500701;9537339;9544579;9605182;9865755 10049733;10072545;10477718;10734104;11342433;11400154;11597922;12149192;12477932;12731055;12805085;12915769;12949249;14560935;15489334;16169070;16625196;16855189;17181634;17541284;17703412;17824960;17851891;18219197;18660381;19258923;19423540;19565514;19865101;20056178;20139115;20237496;20406964;20438785;20503287;20628624;21327296;21832049;22393877;22412388;23128233;23375121;23846739;8642349;8661057;8955214;9060459;9195948;9405404;9558100 6357 J3QLQ9;Q99616 ABBA01011214;AC002482;AC011193;AJ000979;AJ001634;AMYH02033336;BC008621;BT007385;CH471147;CR450337;NM_005408;U46767;U59808;X98306;Z77650;Z77651 AAB38703;AAB67307;AAD09362;AAH08621;AAP36049;ABM82423;ABM85614;CAA04888;CAA66950;CAB01111;CAB01112;CAG29333;EAW80205;EAW80206;NP_005399;Q99616 Hs.414629 1745479;2136807;2145444;2217114 CCL13__3123;GDB:607778;RH45400;RH70645 CKb10;MCP-4;MGC17134;NCC-1;NCC1;SCYA13;SCYL1 C-C motif chemokine 13;CK-beta-10;OTTHUMP00000163804;monocyte chemoattractant protein 4;monocyte chemotactic protein 4;new CC chemokine 1;small inducible cytokine subfamily A (Cys-Cys), member 13;small-inducible cytokine A13 APPROVED protein-coding ENSG00000181374 HGNC:10611 03230 601391 REVIEWED 1347908 CCL20 chemokine (C-C motif) ligand 20 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] 2 2 2 q36.3 222448001 222451723 + 228678558 228682280 + 227813842 227817564 + 1580863;6480464;6907045;7483581;7483582;7483585;7483593;7483630;7488893;7483612;7483594;7483600;7488892;7483622;7483602;7483603;7483609;7483616;7483632;7488895;7483629;7483625;69987;2311385;7483618;7483587;7488896;7483623;7483584;7483583;7483608;7483597;7483601;7483613;7483580;7483586;7483599 10225458;10843722;11133838;14500387;15287366;16081850;16454813;16469832;16702571;17545018;17606602;17664181;17977275;18384452;18422729;19027509;19162238;19428685;20007286;20926800;21715145;21742595;21887805;22040257;22048239;22287435;22469443;22825326;22895364;23116218;23192593;23371320;23702781;9916893 10064080;10438902;10521347;10601351;11035086;11083865;11352563;11532377;11807793;11877260;11994140;11994436;12010510;12067311;12089333;12149255;12239608;12356943;12414801;12427784;12477932;12496186;12528183;12684696;12760962;12821122;12949249;14714554;15069060;15336571;15474097;15489334;15618437;15671814;15679580;15815621;15972662;16034074;16095490;16215992;16531471;16764701;16820679;17075975;17133360;17241869;17295217;17356539;17548638;17562763;17703191;17903302;18047937;18086840;18240029;18512817;18576931;18577758;18684866;18703490;18757306;18980993;19006683;19233848;19295614;19303953;19305396;19324905;19340288;19350575;19423540;19479364;19492413;19567485;19644053;19784662;19797510;19885605;19913121;20023216;20054338;20064082;20237496;20400327;20406964;20420712;20438785;20439195;20459729;20511548;20595617;20628086;20816914;20819093;20942936;20969772;21178014;21178448;21248725;21300824;21724701;21858117;21881590;21911466;21912453;21935436;21949768;21961038;21988832;22001440;22019504;22099878;22286692;22388957;22533972;22553918;22796894;22857950;22860513;22911498;22926691;22926920;23011799;23118497;23383108;23460117;23568457;23681234;23717583;23790181;23817679;23898208;24401998;24657657;8076819;9013939;9038201;9129037;9169459;9223454;9294137 6364 P78556 ABBA01050170;AC073065;AMYH02005926;BC020698;CH471063;D17012;D86955;HI574034;NM_001130046;NM_004591;U64197;U77035 AAB61534;AAC50943;AAH20698;AAX93214;ABM82899;ABM87840;BAA13191;CBX47506;EAW70877;EAW70878;NP_001123518;NP_004582;P78556 Hs.75498 1797352 CCL20_2649 CKb4;Exodus;LARC;MIP-3-alpha;MIP-3a;MIP3A;SCYA20;ST38 C-C motif chemokine 20;CC chemokine LARC;OTTHUMP00000164245;OTTHUMP00000204113;beta chemokine exodus-1;beta-chemokine exodus-1;exodus-1;liver and activation-regulated chemokine;macrophage inflammatory protein 3 alpha;small inducible cytokine subfamily A (Cys-Cys), member 20;small-inducible cytokine A20 protein-coding ENSG00000115009 HGNC:10619 03571 601960 REVIEWED 1345851 CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Sep 2014] 17 17 17 q11.2 31301196 31308394 + 34391643 34398841 + 36064283 36071481 + 1580863;6480464 10049593;10087196;11745396;11978786;12161279;12477932;12626578;12646652;12716654;12805086;12949249;14578205;15489334;15494534;15661937;15702402;16169070;16415274;16670340;16736095;16773571;16984635;17181634;17207965;17469163;17703412;17875202;17900259;17909104;17979978;19017877;19036375;19258923;19357939;19423540;19808030;19913121;19937162;19958819;20237496;20406964;20438785;20503287;20568229;20608885;20628086;20674579;21251883;21324976;21481794;21539615;21778167;21928244;21943944;22117697;22203932;22404649;22589264;22629457;22649201;22848587;23029252;23029519;23102918;23331560;23349697;23433718;23588945;23742785;23786278;23932459;23999500;24001613;24011266;24823638;9129202;9192897;9233607;9570561 6362 P55774 AB000221;AB012113;AB451458;ABBA01011243;AC069363;AC243829;AF082212;AF082213;AF082214;AF111198;BC069700;BC096124;BC096125;BC096126;BC096127;BU617136;CH471147;CR407660;CS115015;NM_002988;Y13710 AAC32287;AAD30390;AAH69700;AAH96124;AAH96125;AAH96126;AAH96127;ADQ32936;BAA21670;BAA34368;BAG70272;CAA74039;CAG28588;CAJ15096;EAW80102;NP_002979;P55774 Hs.143961 1646248;2110307;2163086;2185993 CCL18_3012;D17S1315;RH16601;SHGC-33674 AMAC-1;AMAC1;CKb7;DC-CK1;DCCK1;MIP-4;PARC;SCYA18 C-C motif chemokine 18;CC chemokine PARC;CC chemokine ligand 18;OTTHUMP00000163954;alternative macrophage activation-associated CC chemokine 1;chemokine (C-C), dendritic;dendritic cell chemokine 1;macrophage inflammatory protein 4;pulmonary and activation-regulated chemokine;small inducible cytokine A18;small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated;small-inducible cytokine A18 APPROVED protein-coding HGNC:10616 04784 603757 REVIEWED 1604060 CCL14 chemokine (C-C motif) ligand 14 This gene, chemokine (C-C motif) ligand 14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene induces changes in intracellular calcium concentration and enzyme release in monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Read-through transcripts are also expressed that include exons from the upstream cytokine gene, chemokine (C-C motif) ligand 15, and are represented as GeneID: 348249. [provided by RefSeq, Dec 2009] 17 17 17 q11.2 31220248 31223320 - 34310692 34313764 - 35983656 35986728 - 6480464;8554872 10213461;10978165;11085751;11527984;12477932;14718574;15338056;15489334;16341674;16344560;17353931;17691823;17703412;18367676;18602166;19258923;19553544;19632987;19812544;20379614;20503287;21937684;21988832;23383108;7829101;8551235;8661057;9405404;9600961 6358 Q16627 AA612866;ABBA01011242;AC004675;AC069363;AC244100;AF088219;AK122606;BC038289;BC045165;BC050647;BI496964;BM853193;CH471147;DA821276;NM_032962;NM_032963;Z49269;Z49270 AAC63329;AAF23982;AAH38289;AAH45165;ADR82662;CAA89263;CAA89264;EAW80105;EAW80106;EAW80107;EAW80108;NP_116738;NP_116739;Q16627 Hs.272493;Hs.740501 1745465;1776363 GDB:607751;STS-H22017 CC-1;CC-3;CKb1;FLJ16015;HCC-1;HCC-1(1-74);HCC-1/HCC-3;HCC-3;MCIF;NCC-2;NCC2;SCYA14;SCYL2;SY14 C-C motif chemokine 14;OTTHUMP00000176860;chemokine CC-1;chemokine CC-1/CC-3;chemokine CC-3;hemofiltrate CC chemokine 1;new CC chemokine 2;small inducible cytokine subfamily A (Cys-Cys), member 14;small-inducible cytokine A14 APPROVED protein-coding ENSG00000276409 HGNC:10612 03231 601392 REVIEWED 1321181 CCL19 chemokine (C-C motif) ligand 19 This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. [provided by RefSeq, Sep 2014] 9 9 9 p13 34621038 34622745 - 34689567 34691274 - 34689570 34691277 - 1580863;5130912;5130906;5130909;5130918;5130910;5130911;5130908;6480464 12626344;16959919;17717200;17947663;19783686;19933855;20176793 10706668;10861057;11869682;11870628;11929789;11981810;11994492;12474232;12477932;12729902;12949249;14592837;14871974;15019823;15059845;15489334;15546958;15674360;15714581;15778365;16081805;16249377;16500130;16678487;16887149;16904643;17082584;17182562;17469160;17597826;17703412;17709502;17825430;17881634;18047937;18240029;18310327;18577758;18757429;18838169;19258923;19540558;19655301;20002784;20015995;20237496;20503287;20592280;20865789;20942936;20969772;21139048;21464944;22288592;22334704;22976543;23071112;23644527;23740460;23898208;23922113;24111618;24390342;9013939;9153236;9235955;9498785;9743376 6363 Q5VZ75;Q6IBD6;Q99731 AB000887;ABBA01065006;AJ223410;AK311945;AL162231;AMYH02019453;AX772806;BC027968;CH471071;CR456868;EF064766;NM_006274;U77180;U88321 AAC23905;AAC50944;AAH27968;ABK41949;ABM86162;ABW03691;BAA20383;BAG34886;CAA11307;CAE06252;CAG33149;EAW58416;NP_006265;Q99731 Hs.50002 1689159;1775232;1776404;2119349 AFM326vd1;RH91355;SHGC-37670;STS-U77180 CKb11;ELC;MGC34433;MIP-3b;MIP3B;SCYA19 C-C motif chemokine 19;CC chemokine ligand 19;CK beta-11;EBI1 ligand chemokine;EBI1-ligand chemokine;MIP-3-beta;OTTHUMP00000021295;OTTHUMP00000021296;beta chemokine exodus-3;beta-chemokine exodus-3;epstein-Barr virus-induced molecule 1 ligand chemokine;exodus-3;macrophage inflammatory protein 3 beta;macrophage inflammatory protein 3-beta;small inducible cytokine subfamily A (Cys-Cys), member 19;small-inducible cytokine A19 APPROVED protein-coding ENSG00000172724 HGNC:10617 03750 602227 REVIEWED 1323745 CCL21 chemokine (C-C motif) ligand 21 This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [provided by RefSeq, Sep 2014] 9 9 9 p13 34640475 34641620 - 34709002 34710164 - 34709005 34710167 - 1580863;2311360;5130918;5130910;6480464 17372021;17717200;20176793 10201891;10706668;10861057;11083865;11242036;11929789;11943728;11970971;12066416;12393410;12393730;12477932;12651610;12707342;12729902;12847218;12949249;12975309;14517790;14592837;14667884;14709406;14726633;14726959;14978072;15059845;15073111;15342556;15461605;15489334;15546958;15569314;15674360;15778365;15863780;15934082;15972662;16671092;16713569;16887149;16904643;17331965;17460916;17469160;17474076;17495955;17881634;17890452;17949547;17982129;18240029;18308860;18354239;18577758;18757429;18794853;18802075;19082456;19110536;19180477;19624896;19644859;19674979;19750015;19832038;19847900;20049410;20219786;20233754;20439292;20444755;20453842;20461788;20488224;20488940;20498205;20739459;20797713;20889506;21464944;21586211;21666055;21698152;21900206;21972019;22221265;22392503;22427939;22438908;22468089;22619482;22884357;22976543;23498789;23760102;23764550;24035972;24111618;24383579;24390342;24556356;9235955;9257816;9300671;9419363;9507024;9585422 6366 O00585;Q5VZ73;Q6ICR7 AB002409;ABBA01065006;AF001979;AF030572;AJ005654;AK311901;AL162231;AMYH02019453;AY358887;BC027918;BI833188;BP331359;CH471071;CR450326;EF064765;NM_002989;U88320 AAB86594;AAB91454;AAH27918;AAQ13417;AAQ89246;ABK41948;ABM82974;ABM86168;BAA21817;BAG34842;CAA06653;CAG29322;EAW58415;NP_002980;O00585 Hs.57907 1793756;2217116 CCL21_2702;PMC270078P1 6Ckine;CKb9;ECL;MGC34555;SCYA21;SLC;TCA4 C-C motif chemokine 21;Efficient Chemoattractant for Lymphocytes;OTTHUMP00000021303;OTTHUMP00000021304;beta chemokine exodus-2;beta-chemokine exodus-2;exodus-2;secondary lymphoid tissue chemokine;secondary lymphoid-tissue chemokine;small inducible cytokine subfamily A (Cys-Cys), member 21;small-inducible cytokine A21 APPROVED protein-coding ENSG00000137077 HGNC:10620 04113 602737 REVIEWED 1321033 CCL24 chemokine (C-C motif) ligand 24 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 70308880 70310799 - 75440766 75452674 - 75811796 75813715 - 1580863;4145448;4891485;4891483;4891484;4891495;4891487;4145109;4891496;5130930;5130932;4891493;6480464 10415058;12761043;12952266;15207712;15580493;16304252;17060636;17548626;17982926;18712274;19296494 10072545;10713092;10913244;11141953;11286614;11467997;12034562;12192108;12193745;12218106;12477932;12853948;14718574;15340161;15489334;15744457;16391516;17207965;17438849;17630924;17703412;17908961;17917245;18055844;19247692;19258923;19264973;19423540;19522186;19525930;19828696;20056178;20143648;20236835;20237496;20406964;20438785;20503287;20659406;21077277;22846146;22946025;23025269;23477905;23696919;24600981;9104803;9365122;9598329 6369 O00175 ABBA01005890;AC005102;AJ223461;AK312216;AMYH02016068;BC069072;BC069391;CH471220;NM_002991;U85768 AAB51135;AAD15410;AAH69072;AAH69391;ADQ32923;BAG35149;CAA11383;EAW71772;NP_002982;O00175 Hs.247838 Ckb-6;MPIF-2;MPIF2;SCYA24 C-C motif chemokine 24;CK-beta-6;OTTHUMP00000210224;OTTHUMP00000210225;eosinophil chemotactic protein 2;eotaxin-2;myeloid progenitor inhibitory factor 2;small inducible cytokine subfamily A (Cys-Cys), member 24;small-inducible cytokine A24 APPROVED protein-coding HGNC:10623 03931 602495 REVIEWED 1344177 CCL26 chemokine (C-C motif) ligand 26 This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 70266590 70286812 - 75398842 75419064 - 75769524 75789746 - 1580863;4891493;4891487;5130930;4891495;4891483;5130928;5130929;6480464;6484113 15207712;15580493;15947325;16304252;18712274;19296494;21303604 10373330;10415065;10488147;11329013;11425309;11544308;11748272;12061839;12192108;12477932;12689946;12853948;12975309;15039444;15489334;15521376;15784470;15863444;16084752;16264039;16391516;16453027;16604488;17073866;17490641;17541284;17703412;17900656;18055844;18774776;18844613;19141347;19141349;19203252;19258923;19331716;19379605;19423540;19525930;19567623;20056178;20059579;20143648;20236835;20406964;20438785;20503287;20505746;20974991;21077277;21266446;21325281;21493274;21832049;21881593;21985360;22226123;22580413;22739041;22846146;22946025;22948508;22952702;23185525;23477905;23532518;23607908;24323578;24600981;9847074 10344 Q9Y258 AA926779;AB010447;AB016542;ABBA01005884;ABBA01005885;ABBA01005886;AC005102;AF096296;AF124601;AF142434;AMYH02016065;AMYH02016066;AMYH02016067;AY358893;BC069394;BC093773;BC101665;BG211121;CH471220;EF064763;NG_015989;NM_006072;XM_006715837 AAD15411;AAD22197;AAD46495;AAF09265;AAH69394;AAH93773;AAI01666;AAQ89252;ABK41946;BAA36704;BAA84579;EAW71771;NP_006063;Q9Y258;XP_006715900 Hs.131342 1342049;7187955 D7S1500 IMAC;MGC126714;MIP-4a;MIP-4alpha;SCYA26;TSC-1 C-C motif chemokine 26;CC chemokine IMAC;MIP-4-alpha;OTTHUMP00000160954;OTTHUMP00000210227;chemokine N1;eotaxin-3;macrophage inflammatory protein 4-alpha;small inducible cytokine A26;small inducible cytokine subfamily A (Cys-Cys), member 26;small-inducible cytokine A26;thymic stroma chemokine-1 APPROVED protein-coding ENSG00000006606 HGNC:10625 05262 604697 REVIEWED 1351526 CCL22 chemokine (C-C motif) ligand 22 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014] 16 16 16 q13 41892697 41900098 + 57392695 57400102 + 57358783 57366190 + 1580863;2306307;2306304;2306306;4145489;4891473;4891471;4145441;4891474;4145517;4891472;4145515;4891475;4145498;4145488;6480464 10384142;11438578;12600821;12651599;15293604;15466387;15993846;16453150;17517104;18316417;18684970;19715610;20337996;20628341 10493829;10861057;11241286;11352815;11390394;11792124;11818437;11981828;12193695;12407016;12477932;12485447;12642832;12715916;12851650;12949249;14718574;14747532;14962085;15067078;15113590;15187160;15210758;15489334;15714581;15813816;15944327;16343773;16344560;16583210;16614259;17008059;17703412;17967467;17979978;18047937;18178833;18208895;18224687;18266834;18271928;18287226;18435706;18515987;18547160;19175890;19244125;19258923;19298002;19371952;19756997;19942450;20002703;20237496;20348247;20503287;20525891;20625996;21129807;21327296;21823987;21988832;22125604;22322668;22975373;23106659;23180648;23265706;23268288;23340773;23383108;23782855;23898208;24124553;9151897;9312138;9381181;9430724;9691168;9743322;9826729;9933589 6367 O00626 ABBA01025270;AC004382;AC009052;AK311970;AMYH02032105;AMYH02032106;BC027952;CH471092;DA815965;DB154173;EF064764;NM_002990;U83171;U83239 AAB53372;AAB58360;AAC24306;AAH27952;ABK41947;ABM81848;ABM84237;ABM84998;ABM87624;ABW03327;BAG34909;EAW82918;NP_002981;O00626 Hs.534347 2217118;5015861;5020988;5024272;7185938 CCL22_3302;D10S16;D22S958;D2S1254 A-152E5.1;ABCD-1;DC/B-CK;MDC;MGC34554;SCYA22;STCP-1 C-C motif chemokine 22;CC chemokine STCP-1;MDC(1-69);OTTHUMP00000164658;macrophage-derived chemokine;small inducible cytokine A22;small inducible cytokine subfamily A (Cys-Cys), member 22;small-inducible cytokine A22;stimulated T cell chemotactic protein 1;stimulated T-cell chemotactic protein 1 APPROVED protein-coding ENSG00000102962 HGNC:10621 04263 602957 REVIEWED 1349737 CCL28 chemokine (C-C motif) ligand 28 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] 5 5 5 p12 43272718 43303607 - 43376747 43412488 - 43357484 43412386 - 1580863;4892193;4892194;4892195;4892132;4892197;2298761;4892196;4890012;4892224;6480464 15681819;16290206;16840655;17954569;19050296;19393265;19829664;19847203;20161852 10781587;10975800;11295038;11825560;12477932;12538707;12671049;15489334;16433680;16581045;16785557;17207965;17703412;17912348;18240029;18308860;18426876;18577758;19003934;19199708;19258923;19659860;19913121;20237496;20503287;20628086;21447959;21753853;23509159;23934736;2834384 56477 A0N0Q3;D6RC73;Q9NRJ3 ABBA01024257;AC025457;AF110384;AF220210;AF266504;AK307307;AK312120;AMYH02011243;AMYH02011244;BC062668;BC069532;BX486632;CD671712;CH471119;CQ813003;CS642694;EF064761;HM067700;NM_001301873;NM_001301874;NM_001301875;NM_148672;XM_005248325;XR_241706;XR_241707;XR_241708;XR_427660 AAF87205;AAG16691;AAG43193;AAH62668;AAH69532;ABK41944;ADH95184;ADQ32935;BAG35056;CAG29882;CAO79483;EAW56057;EAW56058;EAW56059;EAW56060;NP_001288802;NP_001288803;NP_001288804;NP_683513;Q9NRJ3;XP_005248382 Hs.656904 CCK1;MEC;MGC71902;SCYA28 C-C motif chemokine 28;CC chemokine CCL28;OTTHUMP00000120046;OTTHUMP00000221629;chemokine (C-C motif) ligand 28 splice variant chi;mucosae-associated epithelial chemokine;small inducible cytokine A28;small inducible cytokine subfamily A (Cys-Cys), member 28;small-inducible cytokine A28 APPROVED protein-coding HGNC:17700 05577 605240 REVIEWED 1348813 CCL23 chemokine (C-C motif) ligand 23 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity on resting T lymphocytes and monocytes, lower activity on neutrophils and no activity on activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. In addition, the product of this gene is a potent agonist of the chemokine (C-C motif) receptor 1. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] 17 17 17 q12 31249651 31254560 - 34340096 34345005 - 36013056 36018008 - 1580863;6480464 10213461;10409433;10660125;10737895;11060285;12477932;15489334;15905581;15927850;16378600;17371990;17513790;17703412;18258606;18668547;19258923;19265684;19951712;20056178;20097574;20187767;20237496;20503287;20824279;21109018;21497884;21646793;21656154;21666788;22147696;22633458;23932459;24384427;8661057;9104803;9129202;9187369;9558365;9834116;9886417 6368 P55773 ABBA01011243;AC069363;AC244100;AF088219;BC093970;BC143310;BQ026575;CH471147;NG_029876;NM_005064;NM_145898;U58913;U67128;U85767;XR_429910;XR_430786 AAB51134;AAC63326;AAC63327;AAD00161;AAD10846;AAH93970;AAI43311;EAW80103;EAW80104;NP_005055;NP_665905;P55773 Hs.169191 2156585;5113928 D17S2152;RH93904 CK-BETA-8;CKb8;Ckb-8;Ckb-8-1;MIP-3;MIP3;MPIF-1;SCYA23;hmrp-2a C-C motif chemokine 23;C6 beta-chemokine;OTTHUMP00000163948;macrophage inflammatory protein 3;myeloid progenitor inhibitory factor 1;small inducible cytokine subfamily A (Cys-Cys), member 23;small-inducible cytokine A23 APPROVED protein-coding ENSG00000274736 HGNC:10622 03930 602494 REVIEWED 1345914 CCL3L1 chemokine (C-C motif) ligand 3-like 1 This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility. This record represents one of two copies that are present on the ALT_REF_LOCI_2 alternate haplotype of the GRCh38 human reference genome assembly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] 17 17 17 q21.1 556 2444 + 34623842 34625730 - 250577 252465 - 1580863;6480464;6907045;7240710 10364178;10471782;10961862;11390394;11449371;11734558;12355456;12477932;1296815;15028295;15340161;15489334;15637236;15728180;15962231;1694014;17062725;17330138;17604289;17874089;17952079;17971457;18360285;18498240;18776933;18781860;18989363;19055602;19100722;19279442;1972563;19741716;19812560;19812561;19812562;19812563;19886839;19898927;20044164;20095832;20442634;20442635;20628649;20659124;21084992;21209899;21592988;21816135;21919959;22450355;22476153;22484760;22484763;2271120;22785612;22837109;23383108;23692808;24405814;7566098;8661057 6349 P16619 AA362164;ABBA01148689;AC131056;AV739733;BC027888;BC107710;BC146914;D90145;M24110;NG_023369;NM_021006;NR_111964;X52149 AAA35859;AAH27888;AAI07711;AAI46915;BAA14173;CAA36397;NP_066286;P16619 Hs.512683 2217120;5111072;5125530 CCL3_2642;RH68318;SGC35233 464.2;CCL3L3;D17S1718;G0S19-2;LD78;LD78BETA;MGC104178;MGC12815;MGC182017;MIP1AP;SCYA3L;SCYA3L1 C-C motif chemokine 3-like 1;G0/G1 switch regulatory protein 19-2;LD78-beta(1-70);OTTHUMP00000163947;PAT 464.2;small inducible cytokine A3-like 1;small-inducible cytokine A3-like 1;tonsillar lymphocyte LD78 beta protein APPROVED protein-coding HGNC:10628 03234 601395;609423 REVIEWED 1605181 CCL3L3 chemokine (C-C motif) ligand 3-like 3 This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility.[provided by RefSeq, Apr 2014] 17 17 q21.1 34522268 34524147 - 36194869 36196748 - 6480464;6907045 10364178;11734558;12355456;12477932;1296815;15028295;15067078;15728180;1694014;1972563;2271120;7566098;8661057;8889548 414062 P16619 AA380745;AC131056;AC233699;AC243829;AI302038;BC007783;BC063472;BC146919;BC147008;BC147013;BT006783;CF128666;NG_023325;NM_001001437 AAH07783;AAI46920;AAI47009;AAI47014;AAP35429;NP_001001437;P16619 Hs.454713 5111072;5125530 RH68318;SGC35233 464.2;CCL3L1;D17S1718;G0S19-2;LD78;LD78BETA;MGC12815;SCYA3L;SCYA3L1 C-C motif chemokine 3-like 1;G0/G1 switch regulatory protein 19-2;LD78-beta(1-70);PAT 464.2;chemokine (C-C motif) ligand 3-like, centromeric;small inducible cytokine A3-like 1;small-inducible cytokine A3-like 1;tonsillar lymphocyte LD78 beta protein APPROVED protein-coding ENSG00000276085 HGNC:30554 14426 609468 REVIEWED 1312228 CCL27 chemokine (C-C motif) ligand 27 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene is chemotactic for skin-associated memory T lymphocytes. This cytokine may also play a role in mediating homing of lymphocytes to cutaneous sites. It specifically binds to chemokine receptor 10 (CCR10). Studies of a similar murine protein indicate that these protein-receptor interactions have a pivotal role in T cell-mediated skin inflammation. [provided by RefSeq, Sep 2014] 9 9 9 p13 34593364 34594160 - 34661893 34662689 - 34661896 34662692 - 1580863;1626250;1626251;5130899;6480464;8554872 12642842;15491423;19541356 10556532;10559234;10588729;10725696;10725697;11821893;11821900;12133963;12477932;14767451;15335355;15466853;15598438;15679580;16433680;16675558;17581202;17703412;18025475;18240029;18266834;18453562;18577758;18772332;19074885;19258923;19460752;19639049;19913121;20503287;20628086;21707761;21993219;22017510;22526457;23670528;23980822;24037339;8889548 10850 Q5VZ77;Q9Y4X3 AB010445;ABBA01065007;AF082393;AJ243542;AL162231;AMYH02019452;BC148263;BM719357;CA433929;CH471071;CQ813007;CS642700;EF064762;NG_028966;NM_006664 AAD41238;AAI48264;AAI66648;ABK41945;BAA87046;CAB46983;CAG29883;CAO79486;EAW58418;EAW58420;EAW58421;NP_006655;Q9Y4X3 Hs.648124 1763431;2151283;2155805;5492859 SHGC-147142;SHGC-35540;STS-U32324;UniSTS:483055 ALP;CTACK;CTAK;ILC;SCYA27 C-C motif chemokine 27;CC chemokine ILC;ESKINE;IL-11 R-alpha-locus chemokine;IL-11 Ralpha-locus chemokine;OTTHUMP00000021297;PESKY;cutaneous T-cell attracting chemokine;cutaneous T-cell-attracting chemokine;skinkine;small inducible cytokine subfamily A (Cys-Cys), member 27;small-inducible cytokine A27 APPROVED protein-coding ENSG00000213927 HGNC:10626 05321 604833 REVIEWED 1313608 CCL25 chemokine (C-C motif) ligand 25 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] 19 19 19 p13.2 7989167 7998769 + 8117224 8127547 + 8052762 8062663 + 1580863;5130926;5130924;6480464 18056919;18592157 10229797;10498628;10544196;10640743;10706668;10974041;11046037;11238115;11805153;11825560;12477932;12671049;12949249;16517733;17510295;17703412;18240029;18245522;18308860;19003934;19258923;20081876;20738854;21344163;21637913;22102554;22863617;2834384;9285413;9722960 6370 C9JDZ7;O15444 AB046579;ABBA01010866;AC008946;AI313430;AI961745;AK292662;AMYH02035414;BC125136;BC130561;BC144463;CH471139;NM_001201359;NM_005624;U86358 AAB69981;AAI25137;AAI30562;AAI44464;ADR82824;BAB62257;BAF85351;EAW68951;EAW68952;NP_001188288;NP_005615;O15444 Hs.310511 Ckb15;MGC150327;SCYA25;TECK C-C motif chemokine 25;Ck beta-15;OTTHUMP00000180596;OTTHUMP00000180597;TECKvar;chemokine TECK;small inducible cytokine subfamily A (Cys-Cys), member 25;small-inducible cytokine A25;thymus expressed chemokine;thymus-expressed chemokine APPROVED protein-coding ENSG00000131142 HGNC:10624 03976 602565 REVIEWED 731046 CCL2 chemokine (C-C motif) ligand 2 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq, Jul 2013] 17 17 17 q11.2-q12 29492130 29494042 + 32582296 32584222 + 34255277 34257203 + 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6347 J3KRT7;P13500 ABBA01011212;AC005549;AF519531;AK311960;AMYH02033336;AV733621;AY357296;BC009716;BG530064;BT007329;CH471147;D26087;M24545;M26683;M28225;M28226;M31626;M37719;NG_012123;NM_002982;S69738;S71513;X14768;X60001;Y18933 AAA18102;AAA18164;AAA36330;AAA60308;AAA60309;AAA96708;AAB20651;AAB29926;AAH09716;AAM54046;AAP35993;AAQ75526;ABM84651;ABW03626;BAA05080;BAG34900;CAA32876;CAC14049;EAW80211;EAW80212;NP_002973;P13500 Hs.303649 1733396;1745473;1795480;5021288 CCL2_498;D17S1269;D17S1988;GDB:607769 GDCF-2;HC11;HSMCR30;MCAF;MCP-1;MCP1;MGC9434;SCYA2;SMC-CF C-C motif chemokine 2;OTTHUMP00000163799;monocyte chemoattractant protein 1;monocyte chemoattractant protein-1;monocyte chemotactic and activating factor;monocyte chemotactic protein 1;monocyte secretory protein JE;small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je);small inducible cytokine subfamily A (Cys-Cys), member 2;small-inducible cytokine A2 APPROVED protein-coding ENSG00000108691 HGNC:10618 01149 158105;182940;607948;609423 REVIEWED 1604917 CCL3P1 chemokine (C-C motif) ligand 3 pseudogene 1 17 17 q12 34610311 34611373 - 237046 238108 - 12355456;1296815;15028295 390788 AC131056;D12592;NG_029353 1745469 GDB:607763 CCL3L2;G0S19-3;LD78gamma;SCYA3L2 APPROVED pseudo HGNC:10629 609467 INFERRED 1354210 CCL4L2 chemokine (C-C motif) ligand 4-like 2 This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. This gene copy contains a non-consensus splice acceptor site at the 3' terminal exon found in other highly similar gene copies, and it thus uses other alternative splice sites for the 3' terminal exon, resulting in multiple transcript variants. [provided by RefSeq, Apr 2014] 17 17 17 q12 31452957 31454730 + 34538468 34540275 + 36211066 36212873 + 6480464;6484113 10540332;11685466;12070155;12355456;12401480;12477932;14673550;15028295;15489334;15843566;16625196;17330138;18368065;18464913;1894635;19148142;19279442;1972563;19898927;20659124;21614014;2462251;2521353;2521882;2568930;2809212;8134838;8525373;8661057;9521068 9560 Q8NHW4 AC131056;AC233699;AC243829;AY766450;AY766451;AY766452;AY766453;AY766454;AY766455;AY766456;AY766457;AY766458;AY766461;BC092445;CD366524;CD521054;NM_001001435;NM_001291468;NM_001291469;NM_001291470;NM_001291471;NM_001291472;NM_001291473;NM_001291474;NM_001291475;NR_111970 AAH92445;AAX07296;AAX07297;AAX07298;AAX07299;AAX07300;AAX07301;AAX07302;AAX07303;AAX07304;AAX07309;AAX07310;AAX07311;AAX07312;AAX07313;AAX07314;AAX07315;AAX07316;AAX07317;NP_001001435;NP_001278397;NP_001278398;NP_001278399;NP_001278400;NP_001278401;NP_001278402;NP_001278403;NP_001278404 Hs.515183 5019391;5021014;5091647 PMC152049P1;RH17517;STS-M69203 AT744.2;CCL4L;CCL4L2;LAG-1;LAG1;SCYA4L;SCYQ4L2 C-C motif chemokine 4-like;MIP-1-beta;chemokine (c-c motif) ligand 4-like;lymphocyte activation gene 1 protein;macrophage inflammatory protein 1-beta;macrophage inflammatory protein-1b2;monocyte adherence-induced protein 5-alpha;small inducible cytokine 4-like;small inducible cytokine A4-like;small inducible cytokine A4-like, chemokine (C-C motif) ligand 4-like;small-inducible cytokine A4-like APPROVED protein-coding ENSG00000276070 HGNC:24066 16030 603782;610757 REVIEWED 735784 CCL3 chemokine (C-C motif) ligand 3 This locus represents a small inducible cytokine. The encoded protein, also known as macrophage inflammatory protein 1 alpha, plays a role in inflammatory responses through binding to the receptors CCR1, CCR4 and CCR5. Polymorphisms at this locus may be associated with both resistance and susceptibility to infection by human immunodeficiency virus type 1.[provided by RefSeq, Sep 2010] 17 17 17 q12 31325155 31327059 - 34415602 34417506 - 36088256 36090160 - 1580863;2307114;2307143;2307145;6480464;5683876;5135051;6484113;6907045;7240710;7175323;7175169;7241797;6906908;7241804;7241810;7241813;7241814;2307059;7241818;7241819;7241820;7241825;7241836;8552226 10353879;15155903;16844401;17052673;17220320;17298994;17666800;17684420;17898087;18187931;18846416;18941229;18941245;20482449;20688906;21268133;21285114;21370451;22248156;22613545 1004873;10072545;10089882;10198043;10201982;10202040;10347159;10446313;10470075;10477718;10490959;10602409;10644351;10660125;10679098;10706735;10734056;10751368;10820198;10841574;10843431;10857861;10925302;10964543;10985253;11023526;11086082;11278300;11461120;11602715;11700073;11751963;11861262;12032188;12070155;12089333;12186702;12200385;12218153;12370346;12370381;12377943;12393595;12393716;12401480;12408680;12413001;12445801;12447751;12477932;12506012;12543931;12560229;12574335;12603824;12651610;12651617;12771199;12960275;1296815;14680814;14733721;15001559;15067078;15077296;15142381;15481145;15489334;15531890;15585099;15588341;15602730;15638726;15728180;15764707;15780175;15817944;16160188;16234357;16354571;16379602;16393999;16427155;16439481;16507178;16697675;16712957;16849642;1694014;17005260;17270460;17330138;17357337;17572013;17625600;17656823;17765942;17914560;18070228;18076643;18164590;18196935;18242850;18346864;18559339;18619972;18678243;18689282;18762952;18802359;18818748;18945465;18991615;19019335;19055602;19074730;19234184;19436054;19463769;19494336;19523456;19527514;19587705;1972563;19841187;19917679;20015995;20041127;20042585;20056178;20124101;20368576;20380698;20403075;20420712;20518837;20650649;20702408;20725607;20817073;20959807;21030011;21082024;21115978;21118814;21368236;21403648;21756796;21784977;21890375;22042700;22085486;22118025;22146622;22156348;22187158;22295852;22307528;22407921;22691208;2271120;22727097;22987449;23029252;23151487;23152559;23223135;23233369;23295355;23334651;23383108;23554973;23692808;23711864;23748193;23760235;23818986;23898208;24047437;24116893;24157267;24277416;24370436;24413563;24556596;25080789;2521882;3058856;3086300;3279154;7537510;7545673;7594543;7695626;8077676;8460127;8525373;8541527;8568261;8573157;8613703;8687429;8699119;8898753;8906795;9092555;9175116;9207199;9359702;9366434;9405404;9407497;9420238;9520456;9576751;9653130;9658081;9885903;9973507 6348 A0N0R1;P10147 ABBA01011243;AC069363;AC131056;AC243829;AF043339;BC071834;BC171831;BC171891;BX103455;CH471147;D00044;D63785;D90144;EF064769;M23178;M23452;M25315;NG_027730;NM_002983;S82234;X03754;X04018;XM_006725571 AAA35858;AAA36316;AAA57255;AAB47170;AAC03539;AAH71834;AAI71831;AAI71891;ABK41952;BAA00029;BAA09855;BAA14172;CAA27388;CAA27643;EAW80100;NP_002974;P10147;XP_006725634 Hs.514107 1733394;1792700;1792702;2217120;5111072 CCL3_2642;D17S1268;PMC156734P1;PMC156734P2;RH68318 G0S19-1;LD78ALPHA;MIP-1-alpha;MIP1A;SCYA3 C-C motif chemokine 3;G0/G1 switch regulatory protein 19-1;LD78 alpha beta;OTTHUMP00000163953;PAT 464.1;SIS-beta;macrophage inflammatory protein 1-alpha;small inducible cytokine A3 (homologous to mouse Mip-1a);small-inducible cytokine A3;tonsillar lymphocyte LD78 alpha protein APPROVED protein-coding ENSG00000277632 HGNC:10627 01656 182283;609423 REVIEWED 1347484 CCL6 chemokine (C-C motif) ligand 6 6353 AK002697 HGNC:10633 1604447 CCL4L2 chemokine (C-C motif) ligand 4-like 2 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein is similar to CCL4 which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals; most individuals have 1-5 copies in the diploid genome, although rare individuals do not contain this gene at all. The human genome reference assembly contains two copies of this gene. This record represents the more telomeric gene. [provided by RefSeq, Jul 2008] 17 q12 34640034 34641841 + 6484113;6480464 10540332;12070155;12355456;12401480;12477932;14673550;15028295;15489334;15843566;16625196;18464913;1894635;1972563;21614014;2247088;2462251;2521353;2521882;2568930;2809212;8134838;8525373;8661057;9521068 388372 B7ZW36;P13236;Q8NHW4 ABBA01011247;AC131056;AY766447;AY766449;AY766450;AY766451;AY766452;AY766453;AY766454;AY766455;AY766456;AY766457;AY766458;AY766460;AY766461;BC070310;BC092445;BC130456;BC130458;BC144393;BC144394;BC146944;BC146958;BC171857;BC171864;M69203;NM_207007;XM_006710030 AAB00790;AAH70310;AAH92445;AAI30457;AAI30459;AAI44394;AAI44395;AAI46945;AAI46959;AAI71857;AAI71864;AAX07295;AAX07296;AAX07297;AAX07298;AAX07299;AAX07300;AAX07301;AAX07302;AAX07303;AAX07304;AAX07306;AAX07308;AAX07309;AAX07310;AAX07311;AAX07312;AAX07313;AAX07314;AAX07315;AAX07316;AAX07317;ADR83445;NP_996890;XP_006710093 Hs.449862;Hs.515183 5019391;5021014;5091647 PMC152049P1;RH17517;STS-M69203 AT744.2;CCL4L;SCYA4L CC chemokine ligand 4L1;CC chemokine ligand 4L1d2;CC chemokine ligand 4L2;OTTHUMP00000164078;chemokine (C-C motif) ligand 4-like 1, telomeric;lymphocyte activation gene 1;macrophage inflammatory protein-1b2;small inducible cytokine 4-like;small inducible cytokine A4-like APPROVED protein-coding HGNC:10631 16689 603782;610757 REVIEWED 1345553 CCL9 chemokine (C-C motif) ligand 9 337988 AF128195 HGNC:19149 1353278 CCL4 chemokine (C-C motif) ligand 4 The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions. [provided by RefSeq, Dec 2012] 17 17 17 q12 31340772 31342566 + 34431220 34433014 + 36103827 36105621 + 1580863;5130902;68880;5130904;5130907;5130914;5130915;5130905;4143497;4892091;5130900;5130901;5130903;5683913;5683919;5683893;5683906;5683873;5683892;5683876;5683877;5683895;5683894;5683896;5683905;5683911;5683897;5683874;5683898;5683918;2307059;5683875;6480464;6484113;6907045;6480432 10679105;11475557;15972509;16238536;16250882;16773571;16924394;16936328;16988274;17258864;17393419;17868461;17898087;18230951;18774390;19046553;19386685;19786211;20483921;20575639;20957032;21113841;21169727;21208283;21273392;21285114;21731074;21767135;21862610;21906407;21914058;21991751 10049593;10089882;10395844;10470075;10540332;10608777;10644351;10679098;10751368;10820198;10841574;10900358;10929056;10938094;10985253;11023526;11129109;11278300;11313374;11470920;11485305;11602715;11685466;11751963;12036855;12070155;12089333;12200385;12218153;12370346;12377943;12393595;12393716;12401480;12411442;12427015;12445801;12477932;12574335;12603824;12651610;12679478;14582706;14673550;14718574;14746807;14761932;15067078;15142381;15481145;15489334;15529362;15585099;15588341;15638726;15645140;15780175;15817944;15831560;15843566;15897346;16160188;16354571;16379602;16393999;16625196;16697675;16841089;16963564;17005260;17330138;17431094;17644519;17703412;17765942;18076643;18203956;18346864;18368065;18623207;18802359;1894635;19047106;19057841;19074730;19103522;19234184;19258923;19328808;19358850;19565503;19620252;1972563;19841187;19846870;19917679;20056178;20200978;20380698;20403075;20482449;20503287;20504918;20598119;20702408;20817073;20855878;20952681;20959807;21030011;21082024;21264298;21464938;21890375;21978000;22085486;22156348;22407921;2247088;23152559;23383108;23509148;23554973;23692808;23760235;23898208;23996681;24116893;24370436;24489105;24500432;2462251;25004830;2521353;2521882;2568930;2809212;7545673;7566098;7594543;7622448;8077676;8134838;8525373;8661057;8663314;8699119;8898753;8906795;8906796;9256481;9359702;9405404;9420238;9520456;9521068;9558100;9576751;9658081;9743377;9759849;9973507 6351 P13236;Q7M4M2 AA362169;ABBA01011244;AC069363;AC243829;AY312578;AY766446;AY766448;AY766459;BC027961;BC104226;BC104227;BC107433;CH471147;CR542119;J04130;M23502;M25316;M57503;NG_033066;NM_002984;X16166;X53683 AAA36656;AAA36752;AAA51576;AAA57256;AAI04227;AAI04228;AAI07434;AAR16183;AAX07292;AAX07293;AAX07305;AAX07307;CAA34291;CAA37723;CAG46916;EAW80098;NP_002975;P13236 Hs.75703 1791366;2117721;2144303;2156901;5019391;5021014;5091647;5493613 G28333;PMC108024P1;PMC152049P1;RH11493;RH17517;STS-M69203;STS-X53683;UniSTS:489733 ACT2;AT744.1;G-26;HC21;LAG-1;LAG1;MGC104418;MGC126025;MGC126026;MIP-1-beta;MIP1B;MIP1B1;SCYA2;SCYA4 C-C motif chemokine 4;CC chemokine ligand 4;G-26 T-lymphocyte-secreted protein;MIP-1-beta(1-69);OTTHUMP00000163963;PAT 744;SIS-gamma;T-cell activation protein 2;lymphocyte activation gene 1 protein;lymphocyte-activation gene 1;macrophage inflammatory protein 1-beta;secreted protein G-26;small inducible cytokine A4 (homologous to mouse Mip-1b);small-inducible cytokine A4 protein-coding HGNC:10630 01657 182284 REVIEWED 1352377 CCL7 chemokine (C-C motif) ligand 7 This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q. [provided by RefSeq, Jul 2008] 17 17 17 q11.2-q12 29507053 29509069 + 32597235 32599261 + 34270216 34272242 + 1580863;5130979;5130980;5130981;5130985;5129686;5130983;4145109;5130982;5130984;5130978;6480464;6483763;5135067;4891421;6483776;6483785;6483834;6483764;4891422;6483784;6483818;6483824;6483772;6483781;6483765;6483766;6483814;6483771;6483780;8693624 10433925;11090473;11157384;12127674;15191918;16270028;16888287;17178563;17719030;17982926;18490489;18492752;18579545;19131226;19828696;19965981;20027288;20045013;20151806;20646081;21327296;21388664;21830856;21986287;22215510;9655469;9800627 10072545;10201901;10205198;10477718;10525044;10570327;10660125;10734104;10770925;10947989;11146155;11781181;12098517;12149192;12477932;12539042;12847692;13679391;14571188;14733956;15067078;15194816;15340161;15381085;15489334;15715950;16002730;1613466;16169070;17023422;17364026;17703412;18469140;18533557;18660381;19253530;19258923;19322201;19403065;19423540;19424580;19526283;19865101;19898927;19937793;20056178;20237496;20406964;20438785;20503287;20570966;20628624;21072187;21102463;21148795;21279498;21536288;22412388;22468089;22614322;23762028;23764760;24327013;7545673;7916328;8318676;8461011;8530354;8580362;8642344;8898111;9109648;9346360;9364936;9405404;9780207;9789057 6354 A8MVH1;A8MX17;P80098;Q7Z7Q8 ABBA01011212;AC005549;AF043338;AMYH02033336;BC070240;BC092436;BC112258;BC112260;CD523198;CH471147;NM_006273;X71087;X72309 AAC03538;AAH92436;AAI12259;AAI12261;ADR83446;CAA50405;CAA50406;CAA50407;CAB59723;EAW80210;NP_006264;P80098 Hs.251526 1745475;1791574;2130523;2217122;5492389 CCL7_3334;D17S2013;GDB:607772;PMC115222P3;UniSTS:480900 FIC;MARC;MCP-3;MCP3;MGC138463;MGC138465;NC28;SCYA6;SCYA7 C-C motif chemokine 7;OTTHUMP00000163801;monocyte chemoattractant protein 3;monocyte chemotactic protein 3;small inducible cytokine A7 (monocyte chemotactic protein 3);small-inducible cytokine A7 APPROVED protein-coding ENSG00000108688 HGNC:10634 01150 158106 REVIEWED 1349694 CCL8 chemokine (C-C motif) ligand 8 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. [provided by RefSeq, Sep 2014] 17 17 17 q11.2 29555877 29558232 + 32646066 32648421 + 34319047 34321402 + 1580863;4892067;4892091;5131089;5131087;6480464 16988274;19571824;20625511;20970515 10477718;10734056;10734104;11083865;11087354;12149192;12477932;12539042;12949249;13679391;14647058;15489334;15607028;15644410;1613466;17487826;17703412;18256320;18602166;18636124;18660381;18684849;18818748;18835932;19019335;19224633;19258923;19415413;19423540;19527514;19865101;20056178;20181935;20406964;20438785;20503287;21220697;21514686;21945122;22412388;22987449;23383108;23418602;23535064;2518726;8189067;8661057;8898111;9005985;9070881;9115216;9119400;9405404;9468473;9558113;9730840 6355 P80075 ABBA01011214;AC011193;AMYH02033336;BC126242;CH471147;NM_005623;X99886;Y10802;Y16645;Y18047 AAI26243;ADR83451;CAA68168;CAA71760;CAA76341;EAW80207;EAW80208;NP_005614;P80075 Hs.271387 5492609;5492771 UniSTS:481767;UniSTS:482420 HC14;MCP-2;MCP2;SCYA10;SCYA8 C-C motif chemokine 8;OTTHUMP00000163792;monocyte chemoattractant protein 2;monocyte chemotactic protein 2;small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2);small-inducible cytokine A8 APPROVED protein-coding ENSG00000108700 HGNC:10635 03791 602283 REVIEWED 1604061 CCL5 chemokine (C-C motif) ligand 5 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] 17 17 17 q12 31108052 31116934 - 34198495 34207377 - 35871491 35880373 - 1626251;2303121;2307105;2307059;2307184;2307142;2307143;2307146;2306307;2307192;2307195;2307060;2307065;2306302;2307108;2307141;2307164;2307165;2307171;2307176;2307183;2307196;2307107;2307103;2307177;2307110;2307104;2307112;2307038;2307063;2307114;2307061;2307062;2307064;2307102;2317568;2317567;4889904;4891431;4889977;4892041;4889989;4889990;4890036;4891430;4890012;4891397;4891406;4889906;2317272;4891914;4891915;4145112;4891379;4891434;4891452;4891951;4892131;4890027;4890025;4891481;4891911;4889880;4889905;4889978;4145452;4891446;4891476;4891879;4890030;4890034;4890004;4890015;4891479;4891880;4891448;4891436;4891440;4892021;4889940;4891881;4891884;4890016;4891381;4891912;4891917;4892130;4890028;4890013;4892019;4889998;4890014;4891477;4891916;4892112;4889980;6480464;6484113;6907045 10384061;11091283;11438578;12502811;12610055;12682842;14611812;14656931;15066130;15128813;15491423;15542513;15668187;15710456;15823807;15833367;15882261;16208318;16215387;16249511;16259780;16284884;16306328;16387809;16455992;16614115;16843865;16855620;17052673;17164972;17304115;17666800;17898087;17924206;17966842;18076762;18208670;18222984;18290317;18326229;18385799;18440671;18469848;18513272;18595729;18656466;18672096;18707039;18708360;18717637;18768196;18790652;18954648;18978347;19005677;19050296;19099677;19104678;19124761;19152028;19155524;19232006;19258635;19276232;19335954;19486528;19508392;19535570;19558673;19617880;19701463;19703829;19729668;19752857;19756023;19840961;19905967;19906920;19996575;20089076;20092989;20182399;20350425;20400704;20430255;20452453;20459697;20478301;20482400;20656925;20720199;20833968;20847078;20940264;9637726 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6352 D0EI67;P13501 AA443491;AA486131;AB023652;AB023653;AB023654;ABBA01011239;AC015849;AC244100;AF043341;AF088219;AF266753;AK312212;AW769950;BC008600;BG272739;CB111656;CD695497;CH471147;CR980938;DQ017060;DQ230537;GD136908;GN344039;GQ504011;HY265548;M21121;NG_015990;NM_001278736;NM_002985 AAA36725;AAC03541;AAC63331;AAF73070;AAH08600;AAY22177;ABB69929;ABM82416;ABM85607;ACW84342;BAA76937;BAA76938;BAA76939;BAG35145;CAY55955;EAW80120;NP_001265665;NP_002976;P13501 Hs.514821 1745471;1791592;1791594;1791820;1791822;1791824;1791826;1791828;1791830;1791832;1792772;2164511;5014051;5019174;5022200;5022651;5037552;5109281;5113294 D11S2921;D1S1425;D8S2278;D8S2279;G10660;GDB:607766;L18426;PMC116027P1;PMC116027P2;PMC126614P1;PMC126614P2;PMC126614P3;PMC126614P4;PMC126614P5;PMC126614P6;PMC126614P7;PMC16375P1;RH103439;RH39335 D17S136E;MGC17164;SCYA5;SIS-delta;SISd;TCP228;eoCP C-C motif chemokine 5;OTTHUMP00000163880;OTTHUMP00000197106;RANTES;T-cell specific protein p288;T-cell-specific protein RANTES;beta-chemokine RANTES;eosinophil chemotactic cytokine;regulated upon activation, normally T-expressed, and presumably secreted;small inducible cytokine A5 (RANTES);small inducible cytokine subfamily A (Cys-Cys), member 5;small-inducible cytokine A5;t cell-specific protein P228 APPROVED protein-coding ENSG00000271503 HGNC:10632 01751 187011 REVIEWED 1348981 CCM3 cerebral cavernous malformation 3 ASSOCIATED WITH Cerebral Cavernous Malformations 3 (inferred) 7240710 9811928 9226 HGNC:1575 603285 1342952 CCNB1IP1 cyclin B1 interacting protein 1, E3 ubiquitin protein ligase HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004] 14 14 14 q11.2 640677 662605 - 20779527 20801471 - 20311368 20333312 - 1580863;6480464 11076863;11230166;12477932;12612082;14702039;15489334;15489336;16189514;16341674;16344560;16381901;16532029;16712791;21779533;21832049;21890473;21906983;8125298;8889549 57820 G3V5E6;G3V5Q4;G3V5S3;H0YJ70;H0YJB2;Q9NPC3 AA101731;ABBA01061223;ABBA01061224;ABBA01061225;AF216381;AI301662;AK026233;AK225253;AK225451;AK226037;AK309183;AL161994;AL355075;AL356019;AMYH02028819;AMYH02028820;AMYH02028821;BC000369;BC001218;BC004435;BI763317;BI771433;BI917081;BM741413;BX161423;BX161424;BX247978;BX334446;CB113193;CH471078;CS072465;DB029392;NM_021178;NM_182849;NM_182852 AAF36386;AAH00369;AAH01218;AAH04435;BAB15403;CAB82326;CAD61896;CAD61897;CAD62312;CAI93603;CAL37971;CAL38527;EAW66479;NP_067001;NP_878269;NP_878272;Q9NPC3 Hs.107003;Hs.741214 1688574;1764671;2147659;2151852 A002Q36;G36286;RH36757;SHGC-148260 C14orf18;HEI10 E3 ubiquitin-protein ligase CCNB1IP1;OTTHUMP00000163984;OTTHUMP00000163985;OTTHUMP00000163986;OTTHUMP00000244397;cyclin-B1-interacting protein 1;enhancer of invasion 10;human enhancer of invasion 10 APPROVED protein-coding ENSG00000100814 HGNC:19437 07000 608249 VALIDATED 733179 CCNB1 cyclin B1 The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). Two alternative transcripts have been found, a constitutively expressed transcript and a cell cycle-regulated transcript, that is expressed predominantly during G2/M phase. The different transcripts result from the use of alternate transcription initiation sites. [provided by RefSeq, Jul 2008] 5 5 5 q12 65462166 65473328 + 68462837 68474072 + 69167010 69178245 + 1358139;1580863;2296040;2315934;2315936;2315937;2289230;2315935;2293596;2315938;2315939;2315940;2315046;2315941;2316310;2315990;2315991;2314685;2315994;6480464;6907045 10193948;11146550;12610511;12670908;16242239;16557593;16614707;17342310;17483252;18006855;18278459;19223507;19298605;19608149;19666607;19957331;20031167 10339564;10362260;10373560;10395539;10421840;10581175;10716937;10793135;10799291;10864927;10958988;10973963;10995390;11113184;11238118;11242082;11259605;11260656;11278247;11285280;11310559;11331587;11444800;11531413;11559705;11562349;11572993;11598127;11642719;11691994;11732576;11751633;11779217;11809526;11836499;11878934;11960377;12009577;12054478;12068134;12097298;12115375;12124778;12200597;12379461;12397081;12424202;12447691;12468530;12477932;12483522;12515609;12524548;12586340;12612082;12676926;12684677;12738867;12775724;12791267;12839990;12865421;1384126;1386342;1387877;14645578;14701726;14760118;14993212;15016823;15024056;15181148;15215233;15256223;15265780;15489334;15541388;15623561;15635413;15654331;15710382;15749827;15767402;15790566;15916961;15931389;15989971;16009132;16082198;16109376;16142332;16159883;16221667;16226712;16237118;16273239;16275333;16322753;16407259;16474839;16478538;16479161;16751065;16784539;16799550;16880739;16921029;17098733;17167975;1717476;17242184;17242210;17274640;17327911;17359284;17359356;17360335;17373649;17386261;17388661;17389604;17408621;17431037;17445807;17466630;17472438;17495531;17495533;17513602;17533373;17586317;17598982;17655707;17668170;17679094;17850284;17881737;18048386;18059335;18195732;18281511;1828290;18337751;18353325;1836978;18372919;18408012;18414058;18445273;18471975;18491248;18591933;18593994;18652313;18671143;18692784;18799590;18820706;19028417;19134343;19162005;19275580;19275586;19293801;19344781;19369249;19458171;19470724;19475398;19505905;19609944;19614764;19724852;19738611;19763267;19786724;19820702;19825974;19826003;19855194;19968870;20080579;20095356;20097574;20103625;20126263;20160477;20169205;20171170;20228808;20334896;20360007;20360068;20367638;20368335;20383333;20404109;20412769;20453000;20508983;20526282;20660152;20661218;20733051;20733055;20808790;20810654;20890132;20927403;20937773;20956543;20965177;20974803;21120602;21139048;21145461;21148318;21174181;21241890;21264543;21276999;21336306;21379580;21488187;21489275;21504622;21525341;21569376;21596315;21871181;21890473;21900495;21900748;21906983;21925791;21952639;21963094;21965721;22014574;22024040;22024133;22071694;22137483;22157815;22158041;22163316;22193957;22253775;22266860;22286100;22391203;22482362;22508987;22529100;22532137;22552851;22580043;22682366;22726437;22905155;22939629;22949227;22965228;23007861;23091007;23114644;23239745;23253261;23383273;23430691;23443559;23455922;23460259;23505570;23602568;23670162;23708605;23775624;23791783;23874748;23979597;24058555;24145166;24163370;24248602;24250222;24324638;24324728;24416725;24623419;24746669;24816145;2570636;7474080;7474100;7494303;7666531;7737117;7769006;7799941;7843284;7876309;7903056;8070405;8101826;8397206;8397207;8402895;8463339;8475101;8524869;8662825;8756624;8889548;9001210;9053846;9094673;9244350;9247342;9315635;9499405;9515786;9520381;9560267;9679058;9813064;9885575;9891079;9926943 891 D6RHI0;E9PC90;H0Y9U8;H0YA62;P14635 ABBA01048284;AC010273;AC022107;AI972071;AK289431;AM851053;AMYH02011468;AY027761;AY027762;AY027763;AY027764;AY027765;AY027767;AY027768;AY027769;AY027770;AY338491;BC006510;BI253686;BM979016;BT020128;CH471137;HH771226;M25753;NM_031966;S74452;U22364 AAD14154;AAD14818;AAH06510;AAK27417;AAK27418;AAK27419;AAK27420;AAK27421;AAK27422;AAK27423;AAK27424;AAK27425;AAP88038;AAV38930;ABM83901;BAF82120;CAO99273;CBX86318;EAW51306;NP_114172;P14635 Hs.23960 1789811;1789813;1789815;1789817;1792168;1794560;1794562;1795482;2182452;5491846 CCNB1;CCNB1_1683;G31135;PMC138289P1;PMC31860P1;PMC31860P2;csnpccnb1-pcr3-1;csnpccnb1-pcr6-1;csnpccnb1-pcr7-1;csnpccnb1-pcr9-1 CCNB G2/mitotic-specific cyclin B1;G2/mitotic-specific cyclin-B1;OTTHUMP00000123478;OTTHUMP00000221981;OTTHUMP00000223023 APPROVED protein-coding ENSG00000134057 HGNC:1579 00454 123836 REVIEWED 1344204 CCM2L cerebral cavernous malformation 2-like INTERACTS WITH valproic acid; phenobarbital (ortholog); pirinixic acid (ortholog) 20 20 20 q11.2 27354603 27376342 + 30598200 30619984 + 32010397 32032181 + 6480464 11780052;12477932;14702039;15489334;16344560;20237496;20467438 140706 B3KWQ7;Q5JYR8;Q9NUG4 ABBA01019285;ABBA01019286;ABBA01019287;AK057090;AK125588;AL031658;AMYH02036912;AMYH02036913;BC019892;BC030254;BC032455;CA406781;CH471077;DA936380;DB331650;NM_080625;XM_006723706 AAH30254;AAH32455;BAB71363;BAG54219;EAW76395;EAW76396;EAW76397;NP_542192;Q9NUG4;XP_006723769 Hs.382151;Hs.638682 1690446;1857526 RH36037;RH80084 C20orf160;FLJ43600;dJ310O13.5 CCM2-like;OTTHUMP00000030570;cerebral cavernous malformations 2 protein-like;hypothetical protein LOC140706;uncharacterized protein C20orf160 APPROVED protein-coding ENSG00000101331 HGNC:16153 12753 VALIDATED 5488936 CCNB1IP1P2 cyclin B1 interacting protein 1 pseudogene 2 20 20 20 40905160 40905977 - 44196629 44197446 - 45567990 45568807 - 100505892 ABBA01052660;AL121778;AMYH02037151;NG_029632 pseudo HGNC:37694 INFERRED 1321661 CCNA1 cyclin A1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q12.3-q13 18073175 18084229 + 37005257 37017019 + 36431830 36442882 + 1580863;2316302;2316304;2289152;6480464;6907045;8694143;8694150;8554872 10068680;10919634;15800920;16236519;18612129 10022926;10068472;10196209;10373534;10559988;10593981;10652300;10679238;10790373;10926775;10995387;11076863;11172814;11256614;11259605;11264176;11310559;11340163;11381140;11584018;11598016;11733001;11884610;12121569;12190313;12191604;12383116;12477932;12579332;12628165;12800980;12970441;14681231;14701826;14985333;15004027;15050687;15138268;15159402;15232106;15342377;15456866;15489336;15583032;15601848;15649124;15829981;16007189;16009130;16159883;16191191;1628647;16381901;16449996;16519687;16774918;16777603;16799873;17047026;17098733;17274640;17308064;17353931;17455244;17530187;18372919;18692784;18787932;19056339;19270695;19379570;19423708;19477924;19668232;19738611;19786724;19843677;19886767;20013084;20219923;20457893;21145461;21412159;21563216;21646351;21764057;22370483;22500553;22529286;22712549;22718346;22763964;23042265;23333304;23972993;23991063;24002705;24019929;24145166;24163370;24359512;7478582;7799941;7969176;8125298;8397206;8397207;8463339;8565853;8756624;9041194;9139732;9244350;9636170;9663463;9843212;9860976 8900 P78396 AA553454;ABBA01021358;AF124143;AK225146;AK301897;AK314261;AK316392;AL359767;AMYH02027866;BC035479;BC036346;BG723613;BT019577;CD171793;CH471075;DC395631;DC396283;DC411883;HH771162;HH771214;NM_001111045;NM_001111046;NM_001111047;NM_003914;U66838;U97680 AAB49754;AAB60863;AAD26337;AAH36346;AAV38384;ABM82229;ABM85414;BAG36926;BAH13579;BAH14763;CAL38250;CBX86286;CBX86312;EAX08565;EAX08566;NP_001104515;NP_001104516;NP_001104517;NP_003905;P78396 Hs.417050 1649651;1675555;1793050;2176427 PMC193706P2;RH25577;RH44746;RH71252 CT146 OTTHUMP00000018259;cyclin-A1 APPROVED protein-coding ENSG00000133101 HGNC:1577 04946 604036 REVIEWED 3476342 CCNB1IP1P3 cyclin B1 interacting protein 1 pseudogene 3 X X X q21.33 94556635 94557851 - 94031549 94032800 - 94776550 94777801 - 100128456 ABBA01064803;AL662819;AMYH02039992;NG_016614 pseudo HGNC:37695 INFERRED 1317623 CCM2 cerebral cavernous malformation 2 This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009] 7 7 7 p13 45138311 45215025 + 45039345 45116069 + 44999746 45076470 + 1600689;1580863;2293891;6480464;6484113;7240710;7240533;8554872;8699517 17160895;17481747;20626350 12477932;12690205;12774951;14624391;14702039;14740320;15489334;15498874;16037064;16239636;16344560;16373645;16769843;17290187;17440989;17657516;18300272;18469344;19088123;19088124;19151727;19151728;19199464;19318350;19475721;19688696;19755102;19913121;20301470;20308363;20379614;20419355;20628086;21029238;21044950;21543988;21569831;22378217;22415356;22684070;22782892;23000020;23266514;23485406;23602568;24007869;24058906;24643410;9811928 83605 C9JUH3;E9PEC4;H7C516;Q9BSQ5 ABBA01058244;ABBA01058245;ABBA01058246;ABBA01058247;AC004847;AC013416;AF370392;AI538498;AK025807;AK098005;AK124060;AK298671;AK303534;AL832992;AMYH02015637;BC004903;BC008859;BC016832;BC025958;BC063663;BX641167;CH236960;CH471128;DA420491;NG_016295;NM_001029835;NM_001167934;NM_001167935;NM_031443;NR_030770;XM_006715785;XM_006715786;XR_428088 AAH04903;AAH08859;AAH16832;AAH25958;AAH63663;AAQ15228;ADZ15377;BAG53562;BAH12842;BAH13982;CAH56307;EAL23746;EAW61058;EAW61059;EAW61060;EAW61061;EAW61062;EAW61063;EAW61064;EAW61065;EAW61066;NP_001025006;NP_001161406;NP_001161407;NP_113631;Q9BSQ5;XP_006715848;XP_006715849 Hs.148272 1662625;1671289;1672271;1680886;1763757;2119062;2121720;2132989;2154676;2176611;5022200 GDB:1317296;GDB:4585131;L18426;RH12217;RH36401;RH36463;RH79068;RH79690;SHGC-147434;STS-T90101;WIAF-2107 C7orf22;MGC4067;MGC4607;MGC74868;OSM;PP10187 OTTHUMP00000159554;OTTHUMP00000214270;OTTHUMP00000214271;OTTHUMP00000214273;cerebral cavernous malformations 2 protein;malcavernin APPROVED protein-coding ENSG00000136280 HGNC:21708 09719 603284;607929 REVIEWED 9586213 CCNB2P1 CCNB2 pseudogene 1 7 7 7 p21.3 7916473 7917815 - 7948744 7950086 - 7909113 7910455 - 100132073 ABBA01056522;AC006465;AMYH02015197;CH236948;NG_022528 pseudo HGNC:50850 INFERRED 9586259 CCNB3P1 CCNB3 pseudogene 1 5 5 5 p14.1 26624800 26626230 - 26739862 26741292 - 26739753 26741183 - 100131678 ABBA01066655;AC027333;AMYH02011065;NG_021843 pseudo HGNC:50851 INFERRED 3398802 CCNB1IP1P1 cyclin B1 interacting protein 1 pseudogene 1 1 1 1 p34.1 43706806 43708023 + 45423760 45425248 + 44958088 44959576 + 728887 ABBA01050900;AL136380;AMYH02000921;NG_015864;NG_016546 pseudo HGNC:37693 INFERRED 1352366 CCNB3 cyclin B3 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as positive regulators of cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle. Different cyclins exhibit distinct expression and degradation patterns, which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chicken and drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and may be required for proper spindle reorganization and restoration of the interphase nucleus. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] X X X p11 54071225 54138495 + 50027540 50094913 + 50284540 50351914 + 1580863;6480464;6907045;8554872 10958988;11531413;11846420;11878934;12185076;15790807;18029348;21404461;21832049;22387997;7474080;7474100;7494303;7666531;8313904;9094673;9520381;9560267 85417 Q8WTR6;Q8WWL7 ABBA01060122;ABBA01060123;ABBA01060124;ABBA01060125;ABBA01060126;ABBA01060127;ABBA01060128;AC239396;AJ314764;AJ314765;AJ314766;AJ416458;AJ421672;AJ421673;AJ421674;AK292454;AL137550;AL591367;AMYH02039360;AY927611;BX323840;CH471180;FO681501;NG_012880;NM_033031;NM_033670;XM_006724610 AAI72237;AAI72544;BAF85143;CAB70806;CAC40024;CAC40025;CAC40026;CAC94915;CAD18845;CAD18846;CAD18847;EAW89920;EAW89921;EAW89922;EAW89923;NP_149020;NP_391990;Q8WWL7;XP_006724673 Hs.130310;Hs.722420;Hs.722421;Hs.740165 1701958 DXS1334 G2/mitotic-specific cyclin-B3;OTTHUMP00000023292;OTTHUMP00000023293 APPROVED protein-coding ENSG00000147082 HGNC:18709 02350 300456 REVIEWED 1348754 CCNA2 cyclin A2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. In contrast to cyclin A1, which is present only in germ cells, this cyclin is expressed in all tissues tested. This cyclin binds and activates CDC2 or CDK2 kinases, and thus promotes both cell cycle G1/S and G2/M transitions. [provided by RefSeq, Jul 2008] 4 4 4 q27 120123415 120130904 - 122737599 122745153 - 121816444 121823933 - 1580863;2293344;2293347;2293346;2293348;6480464;6484113;6907045;8694143;8694150 10713672;10919634;14696091;16236519;16452231;16820573 10339564;10373534;10486249;10525536;10540350;10559858;10581175;10673397;10679238;10766737;10864927;10871850;10884347;10924145;11113184;11237594;11238922;11259605;11310559;11377199;11598016;11698641;11884610;11896577;11907280;11931757;11940657;11980909;11983168;12006580;12044161;12244298;12439743;12444551;12477932;12501191;12601350;12673206;12676926;12742823;12853968;12857729;12941338;12947099;1312467;1387877;14579410;14645522;14646596;14656438;14695896;14747563;14749377;14985333;14993212;15050687;15187102;15189033;15199159;15239650;15306814;1532458;15355997;15455144;15469821;15489334;15557281;15558010;15601848;15647383;15649124;15649889;15652749;15671017;15674323;15782160;15800615;15800651;15815621;15828833;15890360;16009130;16109376;16123593;16290148;16327805;16344560;16398674;16407256;16540140;16575904;16670718;16708383;1675006;16774918;16823179;17001081;17013808;17043677;17208191;17254966;17255290;17316413;17359356;17361108;17445807;17495531;17593077;17636382;17679094;17698606;17868400;17917837;18184650;18246796;1830372;18368381;18391017;18471975;18485873;18490441;18572908;18604603;18635963;18667424;18668132;18676680;18829481;19056339;19098431;19170196;19176011;19363140;19483727;19596857;19614764;19615732;19625176;1962755;19631451;19671680;1967822;19684852;19692168;19703905;19738611;19773423;19822658;19826003;19858290;19864233;19901524;20126974;20133761;20160477;20193482;20360068;20453000;20660152;20733051;20800603;20857402;21046779;21078875;21139048;21145461;21148318;21241890;21264543;21308745;21336306;21447625;21464733;21472690;21596315;21762277;21813648;21858804;21871181;21903422;21906983;21952639;21963094;22158041;22232705;22465120;22711989;22718829;22745723;23028682;23065011;23115005;23160376;23443559;23455922;23460259;23602568;23760262;23815208;24013174;24101496;24302728;24324728;24519066;24623419;24824027;7553852;7630397;7969176;8024548;8202514;8230483;8253383;8423786;8463339;8475101;8502485;8626527;8626584;8647086;8662825;8684460;8756328;8756624;8798463;9020058;9053846;9054499;9190208;9199321;9244350;9311993;9380407;9566895;9632134;9660939;9660973;9716181;9724724;9820826;9858587;9885575;9889196 890 P20248 ABBA01044731;AC079341;AF518006;AK291931;AMYH02010013;AW276578;BC104783;BC104787;CH471056;CR407692;DA748568;NM_001237;X51688;X68303 AAI04784;AAI04788;AAM54042;AAY40969;BAF84620;CAA35986;CAA48375;CAG28620;EAX05246;NP_001228;P20248 Hs.58974 1646861;1652185;1655983;1662440;1663932;1793356;1793874;1793924;2172869;2217124;5120055;5492166 CCNA2_2853;D4S3147;GDB:193706;PMC212738P1;PMC303366P2;PMC309637P3;PMC317048P1;SHGC-24740;SHGC-50809;SHGC-59677;STS-N20583;STS-N26050 CCN1;CCNA OTTHUMP00000164087;cyclin-A;cyclin-A2 APPROVED protein-coding ENSG00000145386 HGNC:1578 00453 123835 VALIDATED 1317801 CCNB2 cyclin B2 Cyclin B2 is a member of the cyclin family, specifically the B-type cyclins. The B-type cyclins, B1 and B2, associate with p34cdc2 and are essential components of the cell cycle regulatory machinery. B1 and B2 differ in their subcellular localization. Cyclin B1 co-localizes with microtubules, whereas cyclin B2 is primarily associated with the Golgi region. Cyclin B2 also binds to transforming growth factor beta RII and thus cyclin B2/cdc2 may play a key role in transforming growth factor beta-mediated cell cycle control. [provided by RefSeq, Jul 2008] 15 15 15 q22.2 36285270 36305194 + 59397284 59417244 + 59105085 59125045 + 1580863;6480464;6907045 10958988;11076863;11230166;11256614;11531413;11878934;11960377;12477932;12482752;12727876;14702039;14718574;15232106;15489334;15489336;16381901;1717476;17289878;17388661;17533373;17549666;18591933;18692784;19223528;19454010;19664331;19738611;19786724;20360068;20660152;20972266;21139048;21161946;21890473;22916037;22939629;23282137;23455922;23602568;24324638;24375198;7474080;7474100;7494303;7666531;7737117;8070405;8125298;9094673;9356466;9520381;9539739;9560267;9926943 9133 H0YMP3;O95067 AB020981;ABBA01038969;ABBA01038970;AC092757;AF002822;AF087910;AK001404;AK222611;AL080146;AM851054;AMYH02030540;AMYH02030541;AY864066;BC105086;BC105112;BT019458;BU934242;CH471082;CR533527;HH771252;NM_004701 AAD09309;AAI05087;AAI05113;AAP97207;AAV38265;AAW34361;BAA78387;BAD96331;BAG50905;CAB45739;CAG38558;CAL38454;CAO99274;CBX86331;EAW77563;NP_004692;O95067 Hs.194698 5023459 WI-11753 HsT17299 G2/mitotic-specific cyclin-B2;OTTHUMP00000163570 APPROVED protein-coding ENSG00000157456 HGNC:1580 04131 602755 REVIEWED 9068564 CCND2-AS1 CCND2 antisense RNA 1 p13.32 103752584 AC006122;BG413373;NR_125790 Hs.577711 ncrna HGNC:49398 VALIDATED 1347204 CCND2P1 cyclin D2 pseudogene 1 11 11 11 q13 60334632 60335584 + 63010557 63011509 + 63243085 63244037 + 1386335;1386336 895 ABBA01003253;AMYH02024910;AP001880;M91003;NG_001092 CCND2P APPROVED pseudo HGNC:1584 INFERRED 736281 CCNC cyclin C The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with cyclin-dependent kinase 8 and induces the phophorylation of the carboxy-terminal domain of the large subunit of RNA polymerase II. The level of mRNAs for this gene peaks in the G1 phase of the cell cycle. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q21 100634399 100660812 - 99990263 100016849 - 99542387 99568973 - 1580863;6480464 10024883;10198638;10235266;10353252;10882111;10993082;11416138;11867769;12392551;12477932;12584197;1260071;12600719;14574404;15084261;15175163;15328539;15863722;16341674;17089020;17207965;17385550;1833066;18508766;19683536;19914168;19967789;20133760;21729782;21806996;21890473;21906983;21988832;22024040;23322298;23563140;23602568;23630251;7568034;7698009;7738192;8125298;8700522;8833152;9121429;9150135;9443979;9710619;9734358 892 E5RFK5;E5RFX8;E5RHL8;E5RI39;E5RIH8;G5E954;H0YBQ5;J3KP90;P24863;Q5JV82;Q7Z4L3 AB125137;ABBA01014480;AK130983;AK222768;AK223247;AK291914;AK298558;AL137784;AMYH02014185;BC010135;BC026272;BC030159;BC041123;BC050726;BC056153;BM788717;CH471051;M74091;NM_001013399;NM_005190;U40739;XM_005267202;XM_006715594 AAC50825;AAH10135;AAH26272;AAH41123;AAH56153;ADQ32557;BAD00144;BAF84603;BAG60753;EAW48465;EAW48466;EAW48467;EAW48468;NP_001013417;NP_005181;P24863;XP_005267259;XP_006715657 Hs.430646;Hs.633351 1680250;1714849;1726603;2106973;2140153;2158474;2159092;2169672;2179408;5037552 CCNC_7758;D8S2279;G62534;RH120419;RH17736;RH63708;RH77919;RH78338;RH80330;SHGC-34355 CycC;hSRB11 OTTHUMP00000016897;OTTHUMP00000225533;OTTHUMP00000225534;OTTHUMP00000225536;OTTHUMP00000225537;OTTHUMP00000225538;OTTHUMP00000225539;OTTHUMP00000225540;OTTHUMP00000225541;SRB11 homolog;cyclin-C APPROVED protein-coding ENSG00000112237 HGNC:1581 00456 123838 REVIEWED 1350463 CCND3P1 cyclin D3 pseudogene 1 10 10 10 p11.23 30457042 30457669 - 30692123 30692750 - 30403194 30403821 - 1386335;1386336 897 ABBA01034345;AL161651;AMYH02022560;M90815;NG_001093 1654365 AFMa348zg9 CCND3P APPROVED pseudo HGNC:1586 INFERRED 736176 CCND3 cyclin D3 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 6 6 6 p21 43455463 43569077 - 41902671 42016610 - 41934933 42048894 - 1580863;1581171;2316011;2316013;2316015;2316016;2316018;2316020;2316019;2316005;2316007;2316012;2316009;6480464;6907045;8694143;8554872 10919634;11329139;12853979;14751136;15755896;16311245;16482499;17885491;18008145;18317945;18679818;19142864;19276076 10318807;10342870;10398124;10597239;10737800;10891505;11042687;11301189;11311237;11360184;11375949;11469683;11726322;11864973;11895902;11896535;12011445;12036888;12082095;12130539;12477932;12482873;12611887;12647795;12778072;12890807;1383201;1386335;1386336;1387066;14574404;14576819;14641107;14645576;14666699;14702039;14747476;15050687;15232106;15252116;15305377;15326477;15327989;15358120;15489334;15569667;15671552;16105657;16169070;16189514;16287839;16300731;16303160;16322284;16344560;16357142;16360641;16569260;16600870;16782892;16815849;16884382;16916940;16920920;16985050;17274640;17300668;17409409;17413032;17467662;17517622;17698582;17882269;17972097;18019405;18084330;18174243;18281541;18358634;18391076;18507837;18570922;18660489;18676680;18701138;19124506;19170196;19204726;19237555;19258477;19473963;19625176;19639271;19692168;19706544;19738611;19820697;19853236;19862010;20097574;20107311;20113529;20139978;20229177;20453000;20465575;20631637;20821231;21048031;21507922;21832049;21841808;21965782;21988832;22037875;22362728;22763761;22858673;23160194;23222517;23240690;23263863;23319000;23376478;23422111;23443559;23455922;23602568;23718855;23812426;23830405;23963898;23967867;7908906;8114739;8490963;8621559;8668211;8756624;8887674;8978686;9106657;9545286;9713342;9716181;9858559 896 B3KP19;D6RDF8;D6RDL3;D6RI00;D6RIX2;H0Y8M4;P30281;Q5T8J1 AB209825;ABBA01050738;ABBA01050739;ABBA01050740;ABBA01050741;ABBA01050742;ABBA01050743;ABBA01050744;AF517525;AK055519;AK057206;AK096276;AK097856;AK299187;AK303452;AK315421;AL160163;AL513008;AMYH02013614;AMYH02013615;AMYH02013616;BC011616;BE247367;BG996045;BX117734;CA424172;CH471081;CR542246;DA069566;DA411470;DA999482;DB001987;DB104254;DB110132;DB544217;DC360231;DC405843;DR761231;M88085;M88086;M88087;M90814;M92287;NM_001136017;NM_001136125;NM_001136126;NM_001287427;NM_001287434;NM_001760;U47285 AAA51927;AAA51929;AAA52137;AAH11616;AAM51826;ABM82674;ABM86056;BAD93062;BAG37810;BAG51531;BAG51884;BAG53245;BAG61231;BAG64497;CAG47042;EAX04070;EAX04071;EAX04072;EAX04073;EAX04074;EAX04075;EAX04076;NP_001129489;NP_001129597;NP_001129598;NP_001274356;NP_001274363;NP_001751;P30281 Hs.534307 1341803;1775670;1778273;1795232;2115045;2117699;5121720 CCND3_93;D6S1441;D6S1552;D6S2062;G34997;RH16378;STS-N70302 D3-type cyclin;G1/S-specific cyclin D3;G1/S-specific cyclin-D3;OTTHUMP00000016390;OTTHUMP00000016391;OTTHUMP00000223406;OTTHUMP00000223407;OTTHUMP00000223408;OTTHUMP00000223409;OTTHUMP00000223413;OTTHUMP00000223414;OTTHUMP00000223415 APPROVED protein-coding ENSG00000112576 HGNC:1585 00452 123834 REVIEWED 730903 CCND2 cyclin D2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014] 12 12 12 p13 6004961 6036590 + 4382901 4414522 + 4273736 4305356 + 1581171;1580863;2289152;2289159;2289160;2289180;2289181;2289149;2289150;2289151;2289153;2289156;2289157;2289154;2289155;2289158;2296039;2296041;2296038;6480464;6907045;8694143;8699517 10919634;11289162;11358847;11994539;14601057;15059925;15131050;15654821;15747581;15755896;15797629;15800920;17016690;17017434;17167184;17270028;17549626;18055803;18068478 10049762;10398124;10508165;11042687;11209538;11254678;11285977;11291051;11301189;11311237;11360184;11469683;11726322;11839508;11896535;11900540;11992406;12112307;12477932;12771922;12777997;1386335;1386336;14581343;14612939;14641107;15065884;15169570;15245432;15489334;15509806;15531890;15613482;15735688;16182291;16189514;16287839;16357142;16548914;16765349;17409409;17486076;17873913;17882269;18029348;18174243;18281541;18391076;18431519;18483325;18504428;18507837;18635970;18714005;18827403;18930031;18950845;19107115;19124506;19252133;19258477;19379567;19464003;19508551;19577536;19608671;19618401;19641124;19679881;19738611;19890848;19945765;20066902;20077038;20139978;20414251;20418948;20473882;20628624;20677014;20939487;21039844;21048031;21059263;21139048;21479697;21504716;21521747;21745168;21790895;21878650;21906983;22004425;22048254;22323446;22330340;22395070;22534667;22848417;22853316;22954617;22964630;23000965;23222517;23251661;23255553;23263487;23266556;23348698;23377640;23443559;23455922;23459443;23466356;23602568;23989931;24249158;24464100;24705253;24992041;7739547;8114739;8125298;8343202;8455931;8621559;8756624;8887674;8945475;9003781;9178893;9422379;9858559;9885575 894 H0YGD4;P30279 ABBA01048766;ABBA01048767;AC006122;AF518005;AI055922;AK223577;AK291146;AMYH02025920;AMYH02025921;BC010958;BC014357;BC089384;BT019847;BX476896;BX647508;CH471116;D13639;M88080;M88081;M88082;M88083;M90813;NG_034254;NM_001759;X68452;XM_005253813 AAA51926;AAA51928;AAH10958;AAH89384;AAM54041;AAV38650;ABM83771;ABM87090;BAA02802;BAD97297;BAF83835;CAA48493;EAW88851;NP_001750;P30279;XP_005253870 Hs.376071 1665759;1795230;2137086;2153979;2190527;5017597 CCND2;CCND2_91;D12S1880;EST16F6;RH68283;RH70876 KIAK0002;MGC102758;MPPH3 G1/S-specific cyclin D2;G1/S-specific cyclin-D2;OTTHUMP00000237990 APPROVED protein-coding ENSG00000118971 HGNC:1583 00451 123833;615938 REVIEWED 736837 CCNF cyclin F This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2693713 2723233 + 2479395 2508859 + 2429394 2458858 + 634645;1580863;6480464;8554872 7896286 10716937;12122006;12477932;15489334;16344560;17215248;20596027;21139048;21640084;21906983;21963094;21987572;22158041;22632967;23000965;23182110;23319600;23486064;24250222;7626882;7813445;8706131 899 H0Y2P7;H3BUD3;P41002;Q59HD0 AB208829;ABBA01030256;ABBA01030257;ABBA01030258;AC106820;AK313371;AMYH02031252;BC012349;CH471112;DA960397;DB523776;NM_001761;U17105;Z36714 AAB60342;AAH12349;ABM81701;BAD92066;BAG36170;CAA85308;EAW85510;NP_001752;P41002 Hs.1973 1677304;1680737;5015881 GDB:335751;RH98649;SHGC-12618 FBX1;FBXO1 F-box only protein 1;G2/mitotic-specific cyclin-F;OTTHUMP00000159081;cyclin-F APPROVED protein-coding ENSG00000162063 HGNC:1591 02574 600227 REVIEWED 1312246 CCNDBP1 cyclin D-type binding-protein 1 This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009] 15 15 15 q14-q15 20248291 20259057 + 43477466 43489375 + 43185118 43197177 + 1580863;6480464 10801854;10854051;10915743;11118353;12434312;12437976;12477932;15887118;16169070;16189514;16303743;16344560;16501603;16951160;17131381;17324930;17407970;17532760;17621266;18923419;18983464;19060904;19153449;20460530;21906983;21963094;22453338;22990118;24816145;8125298 23582 B4DHB5;H3BQA6;H3BR23;H3BUF4;O95273 ABBA01038351;AC068724;AF082569;AF087852;AF113535;AF132034;AF246144;AI953224;AK075146;AK075296;AK124193;AK128849;AK225143;AK225645;AK290665;AK290707;AK295017;AK308817;AL552334;AMYH02030298;AMYH02030299;AMYH02030300;BC009689;BI911845;BQ439439;CB104739;CH471125;CR450331;CS131150;DA210890;DA506028;DA734945;DB492361;NM_012142;NR_027513;NR_027514;NR_045998;NR_045999;XM_006720448;XR_429445;XR_429446 AAD11777;AAF14872;AAF67182;AAF77613;AAH09689;AAP97163;ABM85050;BAC11433;BAC11530;BAC87645;BAF83354;BAF83396;BAG54020;BAG58076;CAG29327;CAJ21094;EAW92588;EAW92589;EAW92590;NP_036274;O95273;XP_006720511 Hs.36794 1770291;1775438;2131040;2145136;2152139;2169453;5118444 A002Q01;D11S3316;D15S1287;RH44772;RH71146;STS-R42458;WI-16359 DIP1;GCIP;HHM D-type cyclin-interacting protein 1;MAID protein;OTTHUMP00000161296;cyclin-D1-binding protein 1;grap2 and cyclin-D-interacting protein;grap2 cyclin interacting protein;human homolog of Maid APPROVED protein-coding ENSG00000166946 HGNC:1587 06156 607089 REVIEWED 68556 CCND1 cyclin D1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008] 11 11 11 q13 66752901 66766272 + 69455873 69469242 + 69641105 69654474 + 704385;1581171;704405;1358139;1580863;704404;704417;704409;2289126;2289128;2289133;2289283;2289336;2289127;2289129;2289130;2289132;1625408;2289139;2289144;2289145;2289147;2289131;2289134;2289337;2296034;2296032;2293574;2296036;2296033;2296037;6480464;6484113;6907045;7240710;8694143;8554872 10919634;11125071;12163013;12203362;12602925;12649181;12668975;14612904;14968434;15538282;15647071;15755896;16696308;16718823;16896691;17055752;17137605;17440082;17695500;17908994;17924468;17996899;18025280;18194538;18301453;18306533;18355450;18548202 10066798;10202152;10318892;10344732;10353443;10371345;10486249;10491434;10500095;10580009;10581175;10645009;10764802;10766840;10801854;10850422;10908655;10910956;10952989;11042687;11073968;11076863;11126356;11256614;11279133;11311237;11360184;11470749;11593423;11642719;11696452;11698342;11698641;11739785;11739795;11751903;11788592;11793365;11805292;11813305;11815623;11836555;11838966;11860939;11870667;11872630;11884610;11896626;11902820;11923474;11935308;11940657;11948404;11958128;11986316;11992406;12002755;12006580;12007188;12024041;12036888;12036906;12036934;12036951;12048199;12067972;12096344;12097293;12101670;12127555;12138206;12150453;12151312;12164325;12209953;12231535;12237776;12241561;12364325;12376514;12379776;12383116;12388769;12391146;12394763;12439750;12444551;12455063;12477932;12480939;12515730;12519773;12529437;12539042;12554669;12557224;12569141;12582032;12589056;12594215;12601350;12606305;12607604;12634633;12673692;12676926;12680219;12692418;12694349;12707028;12738746;12743597;12746453;12759391;12761882;12778072;12807740;12808109;12824903;12825853;12867429;12883688;12883749;12894561;12896908;12899785;12914697;12917336;12917338;12921950;12930597;12937137;12955092;12965081;12972956;1386335;14530270;14641107;14645506;14645576;14646596;14657069;14666635;14666673;14666699;14679024;14688016;14689059;14701845;14703063;14720512;14754892;14759115;14764597;14767060;14966901;14981950;15059606;15060836;15063389;15090460;15128059;15133490;15138714;15153436;15172998;15203873;15225161;15226187;15232106;15239347;15245939;15277517;15282324;15297421;1532244;15350626;15355984;1535701;15375804;15377668;15378006;15485920;15489334;15489336;15498584;15505422;15513923;15539430;15544931;15545188;15551329;15557280;15557752;15558026;15578074;15580291;15592430;15621754;15652748;15655836;15659654;15668481;15684604;15688030;15695117;15695403;15709184;15713663;15734847;15735724;15754315;15776189;15791567;15808510;15809880;15811121;15824172;15845652;15856299;15861516;15862753;15863141;15870300;15878868;15893730;15896460;15897899;15900590;15914210;15923181;15943036;15949570;15950906;15951302;15951563;15971196;15981100;16051426;16061635;16082198;16115225;16123218;16131791;16142313;16155412;16163549;16163738;16166625;16172916;16174239;16207592;16226824;16258726;16258756;16273238;16287839;16322291;16328437;16334487;16341674;16343742;16357142;16381901;16399423;16406195;16407831;16436505;16461912;16488657;16490596;16495921;16507767;16508013;16547504;16552496;16568089;16569215;16600870;16601140;16614707;16614728;16616093;16638786;16644723;16645724;16672066;16690963;16691558;16691626;16699726;16705174;16723714;16732330;16758952;16776827;16782892;16783567;16788380;16804724;16815198;16820873;1682919;16829689;16832876;16843438;16860316;16865250;16870553;16884382;16912209;16916940;16924241;16940298;16942622;16959222;16980615;16985050;17011980;17018901;17022831;17046823;17053782;17060721;17067457;17070615;17080657;17081987;17090192;17106256;17116943;17129455;17139501;17188136;17198740;17203162;17203214;17205132;17207971;17208333;17240151;17254966;17274640;17278098;17284370;17299095;17308274;17310991;17316413;17334399;17344214;17374178;17393422;17398034;17409409;17420273;17427198;17437044;17438373;17447856;17482347;17486065;17499716;17509221;17517369;17517622;17524364;17525627;17549378;17556661;17561354;17600882;17605237;17606477;17606765;17607588;17616526;17616699;17626745;17629555;17634024;17653856;17684142;17693985;17698033;17720094;17724472;17804732;17848143;17855508;17868090;17881732;17882269;17901853;17906980;17908995;17912028;17916995;17922974;17923265;17927591;17927853;17934069;17935714;17941827;17960397;18006686;18006821;18019405;18024283;18027856;18043898;18047954;18056951;18061526;18063576;18067636;18079202;18171527;18174243;18180298;18182398;18187454;18194492;18196581;18197291;18205772;18212742;18226366;18237245;18239461;18240019;18251939;1826542;1827756;18281541;18284543;18291362;18306932;18327210;18327303;1833066;1833629;18341653;18343791;18347178;18349267;18349392;18355918;18358634;18361427;18367547;18373498;18379871;18381935;18393977;18398822;18404250;18406353;18413612;18413728;18413773;18413827;18417529;18431519;18437417;18445313;18456656;18459109;18467434;18483258;18483394;18484097;18491248;18507837;18514338;18537972;18547262;18562319;18598945;18604165;18609126;18616527;18618300;18625744;18632615;18640142;18644870;18650423;18665038;18665077;18676680;18677114;18695042;18695676;18703151;18710938;18710949;18713830;18715616;18715870;18753363;18758380;18769147;18787961;18794045;18794151;18798551;18799029;18819000;18822177;18823025;18829570;18839518;18842998;18843022;18844221;18925698;18936968;18942117;18942709;18949380;18950845;18983468;18988190;18991334;19009649;19020753;19034659;19040567;19047108;19055446;19064572;19070887;19071090;19074853;19074885;19075005;19080374;19084934;19086036;19091404;19096232;19106611;19106744;19116388;19124461;19124506;19129688;19134409;19136653;19139013;19142864;19143767;19147768;19152247;1916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595 F5H437;P24385;Q6FI00 AB075505;ABBA01010292;AF511593;AK299044;AK313136;AMYH02025037;AP001824;AP001888;AY830112;BC000076;BC001501;BC014078;BC023620;BC025302;BM796500;BT019844;BT019845;CH471076;CR536538;CR542099;JB741140;L09054;M64349;M73554;M74092;NG_007375;NM_053056;S71637;X59798;XM_006718653;Z29078 AAA36481;AAA52136;AAA58392;AAH00076;AAH01501;AAH14078;AAH23620;AAH25302;AAM34300;AAV38647;AAV38648;AAV91344;ABM82774;ABM85964;BAG35955;BAG61118;CAA42470;CAA82318;CAG38775;CAG46896;CAL38071;CAL38308;CAL38470;CDI30198;EAW74746;EAW74747;EAW74748;NP_444284;P24385;XP_006718716 Hs.523852 1645639;1674820;1741531;1742587;1791966;1792594;1793092;1793868;1794574;1795116;1795484;2150478;5120692 CCND1;CCND1_504;GDB:181402;GDB:197910;GDB:371378;PMC133966P1;PMC154232P2;PMC196063P1;PMC303366P1;PMC321442P2;PMC98458P1;RH67810;WI-16756 BCL1;D11S287E;PRAD1;U21B31 B-cell CLL/lymphoma 1;B-cell lymphoma 1 protein;BCL-1 oncogene;G1/S-specific cyclin D1;G1/S-specific cyclin-D1;OTTHUMP00000237144;PRAD1 oncogene APPROVED protein-coding ENSG00000110092 HGNC:1582 01346 114500;168461;193300;254500 REVIEWED 8693301 CCNG2P1 cyclin G2 pseudogene 1 12 12 12 q21.1 75318874 75319749 - 75651515 75652390 - 75257735 75258610 - 100128681 ABBA01026470;AC091534;AMYH02026773;NG_021693 pseudo HGNC:50853 INFERRED 4888880 CCNG1P1 cyclin G1 pseudogene 1 6 6 6 q23.2 133766746 133767629 + 133019922 133020805 + 132698783 132699666 + 100130820 ABBA01025878;AL032821;AMYH02014503;NG_012147;NG_022372 pseudo HGNC:39177 INFERRED 8693303 CCNHP1 cyclin H pseudogene 1 4 4 4 q34.3 180159019 180159694 - 182826945 182827620 - 181905792 181906467 - 24204828 100128118 ABBA01070484;AC093669;AMYH02010617;NG_022041 pseudo HGNC:50854 INFERRED 735830 CCNG1 cyclin G1 The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q32-q34 158898684 158906130 + 162864573 162872022 + 163437571 163445016 + 634709;1580863;2316022;2316023;2316025;2316027;6480464;6484113;6907045 12214116;12634633;16845792;8954786;9698156 10194136;10196184;11956189;12477932;12556559;12642871;12684677;15077171;15489334;16322753;17616664;17868090;18408012;18632610;18981217;19584283;19698214;19738611;21688120;21832049;21988832;22105316;22271581;22649121;22835824;23589924;23812426;8626390;8806701;8887688;9013862 900 B4DLW7;D6RCC5;D6RD30;D6RGX3;E7ERZ1;P51959 ABBA01044183;AC112205;AK297190;AK312913;AK316234;AMYH02012635;AY791292;BC000196;BC007093;BM479568;BT007134;BX538035;BX644635;CH471062;D78341;D86077;L49504;NM_004060;NM_199246;U47413;U53328;X77794 AAB03903;AAC41977;AAC50688;AAH00196;AAH07093;AAP35798;AAV40836;ABM84691;ABW03627;BAA11353;BAA13007;BAG35759;BAG59679;BAH14605;CAA54821;CAD97979;EAW61528;EAW61529;EAW61530;NP_004051;NP_954854;P51959 Hs.79101 1795488;2172804;2172806;5037552 A006A21;CCNG1_505;D8S2279;G20650 CCNG OTTHUMP00000160918;OTTHUMP00000223690;OTTHUMP00000223691;OTTHUMP00000223692;OTTHUMP00000223693;OTTHUMP00000223697;cyclin-G;cyclin-G1 APPROVED protein-coding ENSG00000113328 HGNC:1592 03345 601578 REVIEWED 69470 CCNH cyclin H The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010] 5 5 5 q13.3-q14 82582332 82601086 - 86687310 86708850 - 87376254 87413033 - 1580863;6480464;6907045;8554872 10024882;10066804;10082552;10214908;10393546;10438593;10583946;10639311;10734072;10866664;10958691;10973491;10993082;11056214;11062157;11062469;11113176;11113184;11239393;11259578;11313499;11673469;11713533;12049628;12140753;12379213;12393749;12477932;12527756;12646563;14569024;14627702;14702039;15220921;15282296;15328539;15342556;15489334;15530371;15695176;15698475;16189514;16344560;16492920;16782892;16935935;17081983;17353931;17575242;17628022;17643375;17684142;17707548;17728339;18400256;18508765;18614043;18676680;18708406;18854777;18950027;19074885;19116388;19170196;19270000;1939271;19536092;19625176;19692168;19789190;20522537;20598140;21988832;22939629;23377640;23455922;23456497;23602568;23982724;24141722;24332808;2449431;24855060;7533895;7629134;7799941;7936635;8001136;8069918;8078587;8302582;8521393;8521818;8617234;8628270;8647086;8692841;8692842;8836101;8849451;8889548;8934526;8946909;9054383;9056480;9118947;9118957;9121429;9130708;9184228;9218599;9243502;9311822;9334327;9405375;9464540;9465303;9512541;9570510;9582279;9651670;9765201;9790902;9840937;9840943;9852112 902 D6RG18;D6RHI7;P51946 AB209342;ABBA01062123;AC018754;AF477979;AI761780;AK094534;AK291720;AMYH02011750;BC005280;BC016705;BC016823;BC022351;BF510957;BG718714;BP244381;BX537673;CB240639;CH471084;CR407658;DA079651;NM_001199189;NM_001239;U11791;U12685;XM_005248627;XM_005248629;XR_427721 AAA21361;AAA57006;AAH05280;AAH16705;AAH16823;AAH22351;AAL74271;ABM83476;ABM86687;BAD92579;BAF84409;CAG28586;EAW95934;EAW95935;NP_001186118;NP_001230;P51946;XP_005248684;XP_005248686 Hs.292524 1669317;1788054;1788056;1850963;2176995;5017162 G67291;G67292;RH17996;RH69527;SGC30189;STS-M23379 CAK;CycH;p34;p37 CAK complex subunit;CDK-activating kinase complex subunit;MO15-associated protein;OTTHUMP00000147619;OTTHUMP00000222395;OTTHUMP00000222396;cyclin-H;cyclin-dependent kinase-activating kinase complex subunit APPROVED protein-coding ENSG00000134480 HGNC:1594 09059 601953 REVIEWED 1317175 CCNE2 cyclin E2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008] 8 8 8 q22.1 92077652 92092680 - 95892452 95909672 - 94880224 94895254 - 1580863;6480464;6907045;8694143;8694150 10919634;16236519 10454565;11907280;12466974;12477932;15232106;15717329;16620772;16740753;17254966;19084516;19107233;19564413;19603101;19638577;19738611;21789246;21832049;21906983;22394640;23324394;23324395;23443559;23455922;23602568;24116110;7629134;7799941;8889549;9840927;9840943;9858585 9134 E5RHN2;E5RK20;H0YBQ2;O96020;Q8WUE3 AA830205;ABBA01037468;AC087752;AF091433;AF102778;AF106690;AF112857;AMYH02018438;AP003692;AY850195;BC007015;BC020729;BG720611;BJ990268;CH471060;DB547256;NG_029611;NM_057749 AAC78145;AAC80528;AAD08816;AAD08819;AAH07015;AAH20729;AAV97813;ABM84420;ABM87365;EAW91727;EAW91728;EAW91729;EAW91730;EAW91731;EAW91732;NP_477097;O96020 Hs.521693 1647646;1675319;1795486 CCNE2_76;RH93674;SHGC-30660 CYCE2 G1/S-specific cyclin E2;G1/S-specific cyclin-E2;OTTHUMP00000227247;OTTHUMP00000227248 APPROVED protein-coding ENSG00000175305 HGNC:1590 04801 603775 REVIEWED 736488 CCNE1 cyclin E1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. Two alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been described. Two additional splice variants were reported but detailed nucleotide sequence information is not yet available. [provided by RefSeq, Jul 2008] 19 19 19 q12 27001121 27013439 + 30302805 30315224 + 29811898 29824317 + 1358139;1580863;2289228;2289266;2289273;2289336;2289225;2289229;2289230;2289231;2289255;2289267;2289268;2289277;2289281;2289283;2289287;2289293;2289296;2289337;2289265;2289335;2296041;2296035;2296042;2293574;6480464;6484113;6907045;8694143;8694150 10919634;11358847;12602925;12649181;12713563;12847112;14614307;14968434;16116079;16236519;16538218;16739882;16759516;16949911;17196522;17308103;17471573;17483245;17483252;17647260;17671189;17726548;17825795;18047954;18089785;18301453 10202152;10330164;10339564;10359664;10393546;10454565;10486249;10499591;10499802;10500095;10581175;10593981;10751146;10790373;10827081;10851086;10908655;10953010;10995386;10995387;11085541;11132966;11175348;11221854;11237742;11259605;11477082;11533444;11565033;11565034;11733001;11838966;11877298;11884622;11907280;11919196;11940657;12096339;12096344;12101670;12114499;12133429;12444551;12477932;12529437;12533700;12553912;12601350;12607005;12628165;12647795;12676926;12729791;12777997;12778072;12800980;12824885;12839982;12857729;13678583;1388095;1388288;14536078;14612403;14645251;14701826;14719078;14739463;14965268;14985333;14999283;15004009;15004027;15007381;15024056;15060836;15178429;15191351;15197178;15343382;15364936;15467469;15469821;15489334;15514162;15555599;15557281;15557791;15572661;15611651;15660127;15665273;15670215;15708847;15709169;15800651;15800668;15980150;15980415;16109376;16124066;16191374;16223725;16289656;16322693;16338364;16344560;16391523;16504183;16538501;16582606;16609025;16627785;16740753;16761619;16765349;16799991;16818231;16823179;16912169;17192413;17218276;17254966;17254967;17293600;17298674;17325036;17360482;17361108;17409409;17431037;17434132;17525332;17646408;17661632;17664332;17822621;17970072;18029348;18174243;18208561;18276582;18281541;1833066;1833068;18344087;18381935;18455747;18507837;18508766;18559665;18607847;18651214;18799628;18799789;18851830;18959818;18977205;19010853;19058005;19064572;19084516;19107593;19111882;19124506;19179977;19236751;19258477;19305161;19318554;19321444;19423708;19454496;19470470;19470724;19505905;19561641;19569046;19574535;19585504;19587092;19603101;19615252;19617534;19621596;19631451;19670700;19713765;19724860;19738611;19787784;19801544;19860623;19925052;20001501;20102401;20107311;20171175;20336784;20385564;20453000;20453888;20465575;20508983;20530684;20530685;20587660;20607601;20837141;20837705;20972438;21048031;21092281;21103391;21148318;21150326;21179471;21241890;21315112;21372285;21458381;21464733;21472690;21515670;21597324;21620836;21746877;21750416;21792910;21918011;21941773;21952639;21965652;21988832;22120721;22158041;22285861;22388891;22441703;22449977;22460364;22484283;22558078;22763761;22763964;22945645;22958293;22959436;23044415;23109421;23185313;23314229;23324395;23378270;23383003;23416081;23443559;23453757;23455922;23543735;23602568;23625206;23775012;23787073;23815208;23900351;23900874;23910095;23955388;24004674;24026986;24129577;24145166;24163127;24176298;24218601;24250222;24298052;24366882;24370822;24449507;24509904;24909281;24947816;7629134;7698009;7739542;7799941;8207080;8230483;8253383;8617791;8618861;8647086;8649818;8662825;8756624;8769642;8833152;8861947;8867812;8891332;8978686;9012818;9053846;9139732;9153308;9190208;9192873;9192874;9218599;9223324;9311993;9380407;9453249;9472014;9525916;9545286;9632134;9660939;9716181;9731206;9819444;9840927;9840943;9885575;9886493;9891079 898 C9J2U0;I3L1Q9;I3L413;P24864 ABBA01039551;ABBA01039552;AC008798;AF518727;AK291549;AMYH02035883;AU137789;BC035498;BE645164;KF672847;KF672848;L48996;M73812;M74093;NM_001238;X95406;XM_005259370;XM_006723457 AAH35498;AAM54043;ABM84309;ABM87702;AHC02488;AHC02489;BAF84238;CAA64687;CAA64688;NP_001229;P24864;XP_005259427;XP_006723520 Hs.244723 1680469;1791940;1794646;2220244;5038522 CCNE1;PMC133799P2;PMC341775P1;RH65121;RH80073 CCNE G1/S-specific cyclin-E1;cyclin E variant ex5del;cyclin E variant ex7del;cyclin Es;cyclin Et;cyclin e APPROVED protein-coding ENSG00000105173 HGNC:1589 00455 123837 REVIEWED 1319424 CCNI cyclin I The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. The function of this cyclin has not yet been determined. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 75270553 75298504 - 77968308 77998719 - 77048012 77075972 - 1580863;6480464 12477932;15489334;17043677;17507299;19322201;21890473;21906983;21963094;21988832;23907122;24250222;7493655;8125298;9705831 10983 D6RDK3;D6REZ3;D6RG12;D6RH01;H0YA27;Q14094 AB209766;ABBA01063370;AC104771;AC111196;AF135162;AK222931;AK301111;AK312632;AMYH02009522;AY207372;BC000420;BC004975;BT020019;CH471057;CR541783;D50310;NM_006835 AAF43786;AAH00420;AAH04975;AAO13492;AAV38822;ABM82786;ABM85975;BAA08849;BAD93003;BAD96651;BAG35517;BAH13410;CAG46582;EAX05808;EAX05809;EAX05810;NP_006826;Q14094 Hs.518827 1673421;1706918;1711194;1754619;1849718;2116625;2127144;2127263;2169076;2178185 D4S3098;D4S494;SHGC-132958;SHGC-58048;SHGC-59775;SHGC-64017;SHGC-67650;SHGC-80948;SHGC-85345;STS-N58372 CCNI1;CYC1;CYI OTTHUMP00000160599;OTTHUMP00000219203;cyclin ITI;cyclin-I APPROVED protein-coding HGNC:1595 16690 REVIEWED 1606241 CCNJL cyclin J-like FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; copper(2+) sulfate 5 5 5 q33.3 155711187 155772085 - 159678666 159739602 - 160251659 160312595 - 6480464 12477932;14702039;24250222 79616 B4DFA1;B4DZA8;E5RFJ6;E7EN43;Q8IV13 ABBA01044221;ABBA01044222;AC112191;AK024228;AK131381;AK294000;AK302823;AMYH02012603;AMYH02012604;AMYH02012605;BC013353;BC035871;CH471062;NM_024565;XM_005265982;XM_006714917;XM_006714918;XR_427810;XR_427811 AAH13353;AAH35871;BAB14856;BAD18532;BAG57362;BAG64020;EAW61562;NP_078841;Q8IV13;XP_005266039;XP_006714980;XP_006714981 Hs.14070 1649122;1680533;1699790 A004D48;RH103502;RH70819 FLJ14166 OTTHUMP00000160842;OTTHUMP00000224225;cyclin-J-like protein protein-coding ENSG00000135083 HGNC:25876 07853 VALIDATED 1314992 CCNJ cyclin J FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; acetylsalicylic acid; benzo[a]pyrene 10 10 10 q23.33 91544376 91561843 + 97803159 97820627 + 96043402 96060870 + 737633;1580863;6480464 12477932 14702039;16341674;17207965;19322201;23455922;24098452 54619 Q5T5M9 ABBA01021832;AK001757;AK025932;AK092360;AK297264;AK303018;AL356155;AMYH02023584;BC043175;BM789816;CH471066;NM_001134375;NM_001134376;NM_019084;XM_005269921 AAH43175;ADQ32987;BAA91887;BAG52537;BAH12533;BAH13880;EAW49984;NP_001127847;NP_001127848;NP_061957;Q5T5M9;XP_005269978 Hs.596479 1778534;1778754 RH66368;T16093 bA690P14.1 OTTHUMP00000020165;OTTHUMP00000035219;cyclin-J protein-coding ENSG00000107443 HGNC:23434 07710 VALIDATED 1312769 CCNG2 cyclin G2 The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins reported in mammals, cyclins A through H, share a conserved amino acid sequence of about 90 residues called the cyclin box. The amino acid sequence of cyclin G is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein destabilization motif, suggesting that cyclin G2 expression is tightly regulated through the cell cycle. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 75379719 75392576 + 78078357 78091213 + 77157204 77170060 + 1580863;6480464;6907045 11956189;12452053;12477932;14702039;16364039;16608856;17123511;18025271;18754885;18784254;19460752;19559447;19738611;20677014;21532621;21688120;21988832;22589537;22596188;24059861;24248541;24250222;24272084;24289643;24293374;24297335;24307622;24339739;8626390;8806701 901 D6RHI3;Q16589;Q8N5D4 ABBA01063371;AC104771;AF549495;AK054785;AK092638;AK292029;AK293899;AL080193;AMYH02009523;AMYH02009524;BC032518;BT019503;CA429362;CH471057;CR542181;CR542200;DC344594;L49506;NM_004354;U47414 AAC41978;AAC50689;AAH32518;AAN40704;AAV38310;ABM81762;ABM84917;BAF84718;BAG57286;CAG46978;CAG46997;EAX05812;EAX05813;EAX05814;NP_004345;Q16589 Hs.740456 1643674;1850324;1857604;2138287;2152465;2180040 A002S05;Cda1eb10;D4S1351;D4S2551E;SHGC-50382;SHGC-59681 OTTHUMP00000160591;OTTHUMP00000160592;OTTHUMP00000219366;OTTHUMP00000219367;cyclin-G2 APPROVED protein-coding ENSG00000138764 HGNC:1593 04438 603203 REVIEWED 8693302 CCNL2P1 cyclin L2 pseudogene 1 4 4 4 43011767 43012309 - 42563897 42564439 - 42561880 42562422 - 100418743 ABBA01014290;AC110788;AMYH02009109;NG_025094 pseudo HGNC:50855 INFERRED 2290194 CCNI2 cyclin I family, member 2 ENCODES a protein that exhibits protein kinase binding (inferred); INVOLVED IN regulation of cyclin-dependent protein serine/threonine kinase activity (inferred) 5 5 5 q31.1 128213236 128219955 + 132083137 132089856 + 132747445 132754403 + 12477932;23707792 645121 B7ZMB7;B7ZMB8;Q6ZMN8 ABBA01068802;AC004775;AK131553;AMYH02012219;AW131382;BC132837;BC136836;BC144416;BC144417;NM_001039780;NM_001287252;NM_001287253 AAI32838;AAI36837;AAI44417;AAI44418;BAD18687;NP_001034869;NP_001274181;NP_001274182;Q6ZMN8 Hs.522057;Hs.714496 1698462;1785372;1800142;1800692;1801360;1801536;1801626;1802400;1821708;1824306;1839512;2001202;2001204;2001206;2001208;2001210;2001212;2001214;2001216;2001218;2001220;2001222;2001224;2001226;2001228;2001230;2001232;2001234;2001236;2001238;2001240;2001242;2001244;2001246;2001248;2001250;2001252;2001254;2001256;2001258;2001260;2001262;2001264;2001266;2001268;2001270;2001272;2001274;2001276;2001278;2001280;2001282;2096422;2096424;2096426;2096428;5091772 ECD00927;ECD01207;ECD01552;ECD01646;ECD01691;ECD02085;ECD11940;ECD13251;ECD20938;REN71513;REN71514;REN71515;REN71516;REN71517;REN71518;REN71519;REN71520;REN71521;REN71522;REN71523;REN71524;REN71525;REN71526;REN71527;REN71528;REN71529;REN71530;REN71531;REN71532;REN71533;REN71534;REN71535;REN71536;REN71537;REN71538;REN71539;REN71540;REN71541;REN71542;REN71543;REN71544;REN71545;REN71546;REN71547;REN71548;REN71549;REN71550;REN71551;REN71552;REN71553;RH102780;SHGC-132851;SHGC-53463;stSG601492;stSG601493;stSG601494;stSG601496 FLJ16793 OTTHUMP00000066078;cyclin-I2 protein-coding ENSG00000205089 HGNC:33869 VALIDATED 1353870 CCNJP1 cyclin J pseudogene 1 7 7 7 p11.2 67346762 67347913 - 56296324 56297475 - 56228631 56229782 - 100128459 ABBA01061860;AC006970;AMYH02015755;NG_017085 CCNJP APPROVED pseudo HGNC:22512 INFERRED 3516297 CCNJP2 cyclin J pseudogene 2 1 1 1 91474965 91476106 + 93221371 93222512 + 92755814 92756955 + 100418724 ABBA01045534;AC104332;AMYH02001488;NG_022793 pseudo HGNC:37997 INFERRED 1352503 CCNM cyclin M 9613 HGNC:1598 1317544 CCNK cyclin K The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008] 14 14 14 q32 80002624 80032734 + 99947695 99977852 + 99481366 99511515 + 1580863;6480464 10574912;11884399;11988847;12477932;15302935;15489334;16055720;16189514;16713569;17081983;17169370;19322201;19850743;20459741;20930849;21555514;21890473;21906983;21963094;22547058;22623531;22678362;22939629;22988298;22990118;24163370;25004108;9632813 8812 G3V235;G3V2Q3;G3V5E1;O75909 AB209373;ABBA01048558;ABBA01048559;AF542236;AK311075;AL110504;AMYH02029835;AMYH02029836;BC015935;BG503760;BM505592;BQ432222;BT006950;BX247958;CH471061;NM_001099402;XM_005268154 AAH15935;AAN06829;AAP35596;ABM84464;ABW03286;BAD92610;CAD62298;EAW81668;EAW81669;EAW81670;EAW81671;EAW81672;NP_001092872;O75909;XP_005268211 Hs.510409 1660974;1661577;1797354;1849208;2141700;5093876 A009Y14;CCNK_1614.3;G32976;G35001;RH1621;RH69937 CPR4;MGC9113 OTTHUMP00000246203;OTTHUMP00000246205;cyclin-K APPROVED protein-coding HGNC:1596 603544 REVIEWED 7383834 CCNT2-AS1 CCNT2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 2 2 2 q21.3 129337126 129389099 - 135624203 135676176 - 134866633 134918606 - 8554872 100129961 AA766827;ABBA01028188;ABBA01028189;AC016725;AK303295;AMYH02004835;AMYH02004836;AMYH02004837;BX090862;HG494624;HG494625;HG494626;NR_036549 BAG64370 Hs.729028 AC016725.4 ncrna HGNC:40130 VALIDATED 1319417 CCNT2 cyclin T2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. A pseudogene of this gene is found on chromosome 1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010] 2 2 2 q21.3 129389316 129427507 + 135676363 135716915 + 134918794 134959345 + 1580863;6480464 10049833;10329126;10364329;10465067;11282025;11713533;11747605;12037672;12477932;12676794;12832472;14702039;15201869;15302935;15563843;15815621;16109376;16331689;16344560;16841087;17452463;17643375;18029348;18391197;18566585;19322201;19883659;20379614;20811636;20854876;21729782;23455922;23602568;24250222;24515107;24654937;9499409 905 B4DH21;C9JUL2;F2Z2C9;F8WDY7;H7BZ27;H7C411;O60583 ABBA01028188;AC016725;AF048731;AF048732;AJ297062;AK023645;AK075041;AK292913;AK294889;AMYH02004837;AMYH02004838;AU157699;AY865621;BC114366;BX648174;CH471058;NG_029189;NM_001241;NM_058241;NR_037649;XM_005263830;XM_005263831;XM_005263832;XM_006712827 AAC39665;AAC39666;AAI14367;AAW56073;AAY14998;BAF85602;BAG57982;EAX11644;EAX11645;EAX11646;EAX11647;NP_001232;NP_490595;O60583;XP_005263887;XP_005263888;XP_005263889;XP_006712890 Hs.744115 1646842;1650396;1675658;1677428;1688959;1756775;1775430 RH48571;RH65103;RH93172;RH93392;RH99330;SHGC-143906;WI-19949 CYCT2;FLJ13583;FLJ90560;MGC134840 OTTHUMP00000162502;OTTHUMP00000162503;SDS-stable vimentin-bound DNA fragment HEF42VIM22;cyclin T2a;cyclin T2b;cyclin-T2;subunit of positive elongation transcription factor b APPROVED protein-coding ENSG00000082258 HGNC:1600 04839 603862 REVIEWED 1346890 CCNO cyclin O This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes. [provided by RefSeq, Jul 2014] 5 5 5 q11.2 51479778 51482306 - 54526980 54529508 - 55231152 55233680 - 1580863;6480464;8699517 10393198;11081631;12161446;12171929;12477932;14702039;15372022;15489334;18654987;2001396;20360068;21226479;22292079;23443559;23849790;24747639;24824133;8419333 10309 P22674 ABBA01015739;AC026704;AC091977;AK026075;AMYH02011310;BC004877;BC017345;BC056254;BC143905;BI832060;BX096363;CH471123;HY011414;M87499;NG_034201;NM_021147;NR_125346;NR_125347;NR_125348;X52486 AAB05817;AAH04877;AAI60041;BAB15351;CAA36728;EAW54912;EAW54913;NP_066970;P22674 Hs.3041 1669667;1681654;5493385 RH80859;STS-X52486;UniSTS:485916 CCNU;CILD29;FLJ22422;UDG2;UNG2 OTTHUMP00000222377;cyclin U;cyclin domain containing;cyclin-O;cyclin-like uracil-DNA glycosylase;uracil-DNA glycosylase 2 APPROVED protein-coding ENSG00000152669 HGNC:18576 06375 607752;615872 REVIEWED 4889025 CCNT2P1 cyclin T2 pseudogene 1 1 1 1 109797332 109805158 - 111550315 111558141 - 111007693 111015519 - 100418763 ABBA01068395;AL360270;AMYH02001726;NG_026970 pseudo HGNC:39178 INFERRED 1319329 CCNL2 cyclin L2 The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 p36.33 1246539 1260165 + 1321091 1334718 - 1385711 1399338 - 1580863;6480464 12477932;14623875;14684736;14702039;14725631;15489334;16344560;16710414;17081983;17494991;18216018;23455922;24218572;8125298;8838426 81669 C9J148;F2Z3J5;J3KRL1;J3QSH2;Q96S94 ABBA01016037;ABBA01016038;AC026283;AF087903;AF251294;AK000685;AK026796;AK027770;AK056120;AK057133;AK074112;AK225758;AK292268;AK293451;AL139287;AL391244;AL834432;AL834441;AMYH02000097;AX880620;AY037150;AY116620;BC016333;BC071622;BM153748;CH471183;CR628411;DA360436;NG_029782;NM_001039577;NM_030937;XM_005244803;XM_006710931;XM_006710932;XM_006710933;XM_006710934;XR_241043;XR_426629;XR_426630;XR_426631;XR_426632 AAG44594;AAH16333;AAH71622;AAK67631;AAM76789;AAP97201;BAB84938;BAF84957;BAG51376;BAG51870;BAG56949;CAD39092;CAD39101;CAE91020;EAW56211;EAW56212;EAW56213;EAW56214;EAW56215;EAW56216;EAW56217;NP_001034666;NP_112199;Q96S94;XP_005244860;XP_006710994;XP_006710995;XP_006710996;XP_006710997 Hs.515704 1644989;1795492;1848342;2154269;2167544 CCNL2_1347;G31515;SHGC-74123;SHGC-74124;SHGC-74125 ANIA-6B;CCNM;CCNS;DKFZp761A1210;DKFZp762O195;HCLA-ISO;HLA-ISO;PCEE;SB138 OTTHUMP00000002948;OTTHUMP00000002949;OTTHUMP00000221204;OTTHUMP00000221205;OTTHUMP00000221207;cyclin M;cyclin S;cyclin-L2;paneth cell-enhanced expression protein APPROVED protein-coding ENSG00000221978 HGNC:20570 10815 613482 REVIEWED 1322457 CCNT1 cyclin T1 This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 12 12 12 q13.11 47882748 47906759 - 49082241 49110781 - 48688458 48716998 - 1580863;6480464;8554872 10049833;10066804;10077579;10082552;10329125;10329126;10364292;10364329;10377393;10384302;10393184;10393900;10438593;10454543;10465067;10467404;10536359;10545121;10574912;10617616;10656684;10661406;10671520;10757782;10866664;10903436;10913173;10931842;10944537;10958691;10964778;10983978;10985245;11080476;11112772;11118314;11145967;11282025;11373315;11455589;11504720;11545735;11547919;11549886;11673469;11689614;11689688;11704662;11713532;11713533;11730934;11739686;11739744;11780068;11809800;11884399;12052871;12065898;12115727;12177005;12368300;12368330;12458222;12486002;12494448;12588988;12591939;12651893;12676794;12727882;12753906;12832472;12883554;12887902;12894230;12917420;12942536;12944466;12944920;14569024;14580347;14627702;14702039;14963154;14972556;14984439;15049426;15107825;15139295;15142377;15169877;15183343;15201869;15328539;15473004;15498776;15528190;15546612;15563843;15638724;15713661;15713662;15719065;15905409;15913611;15940264;15994294;15994812;16035254;16109376;16109377;16146763;16308568;16362050;16439541;16601680;16615932;16687403;16764723;16781761;16838299;16893449;16916647;16980611;17014716;17148452;17168834;17267505;17289077;17317667;17341462;17352406;17452463;17461970;17502349;17537237;17540406;17625008;17643375;17661632;17686863;17690245;17700062;17724342;17855633;17907378;18029348;18039861;18187620;18200011;18205180;18281698;18353948;18391197;18483487;18566585;18620576;18655042;18773076;18780834;18781797;18931076;18976462;18976975;18991615;19020832;19139066;19179338;19211771;19223581;19275586;19275730;19297489;19387490;19435492;19454010;19716452;19812265;19818711;19883659;19956800;20018238;20054825;20064163;20081228;20153263;20210365;20227660;20305087;20385237;20385240;20431927;20471948;20471949;20535204;20551309;20562857;20571604;20618343;20670891;20683478;20714219;20724442;20808803;20811636;20828615;20854876;20943989;20976203;21030982;21035463;21139048;21204735;21360054;21450947;21555514;21709748;21729782;21763494;21763496;21951552;22094252;22100159;22190034;22205749;22211660;22229121;22253435;22323290;22342181;22355797;22421880;22422068;22483617;22567366;22569018;22591364;22592529;22692005;22771113;22939629;22959624;22990118;23007159;23064645;23087374;23092279;23110726;23152527;23170164;23247501;23251033;23274668;23296566;23330719;23455922;23471103;23518577;23539624;23569210;23602568;23658523;23667531;23678366;23691059;23754689;23827503;24351800;24367103;24515107;24654937;24816145;7853496;8676484;8849451;9334325;9334326;9356449;9491887;9499409;9557739;9570510;9649438;9651670;9696809;9765201;9811724;9832504;9843510;9872325;9990016 904 A8K4M5;O60563 ABBA01031482;AC079951;AF045161;AF048730;AF255307;AK002085;AK290990;AL832083;AMYH02026425;BX098766;BX537514;BX537516;CH471111;EF688064;HY016640;NM_001240;NM_001277842 AAC39638;AAC39664;AAF72184;AAI56507;AAI72543;ABV58572;BAF83679;EAW57998;NP_001231;NP_001264771;O60563 Hs.92308 1700782;1779542;1792086;1792562;1797356;2116613;2137306;2149412;2163647;2186130;5017603 CCNT1;CCNT1_2415;PMC136632P1;PMC153984P1;RH104016;RH17417;RH44408;RH70421;SHGC-153516;SHGC-33565;STS-H84164 CCNT;CYCT1;DKFZp313A1331;DKFZp313N0919;DKFZp313O1211;FLJ11223;HIVE1 CDK9-associated C-type protein;Human immunodeficiency virus-1 expression;OTTHUMP00000243665;OTTHUMP00000243666;cyclin C-related protein;cyclin T1b;cyclin-T;cyclin-T1;human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1;subunit of positive elongation transcription factor b APPROVED protein-coding ENSG00000129315 HGNC:1599 03938 143055 REVIEWED 733406 CCNL1 cyclin L1 ENCODES a protein that exhibits protein kinase binding (inferred); INVOLVED IN regulation of cyclin-dependent protein serine/threonine kinase activity (inferred); regulation of transcription, DNA-templated (inferred); RNA processing (inferred); FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 3 3 3 q25.31 155289188 155302097 - 156864291 156878482 - 157146364 157160693 - 1580863;6480464 11042152;11683997;11980906;12414649;12477932;12975309;14623875;14702039;15302935;15489334;15700036;16009940;16598186;17494991;18216018;20372150;20721974;21307140;21441570;21586274;21712988;21832049;22073261;22685556;22911880;23202124;23455922;23455924;23575227;24654937 57018 C9JPL0;H7C4G1;Q9UK58 ABBA01058836;AC104411;AF180920;AF208843;AF367476;AF367477;AK022974;AK098021;AK122738;AMYH02007980;AY034790;AY358663;BC007081;BC038394;BC067812;BX641146;BX647554;CH471052;HI179062;NM_020307;XM_005247647;XM_005247648;XM_005247649;XM_005247650;XM_005247651;XM_006713710;XM_006713711 AAD53184;AAF64257;AAH07081;AAH38394;AAH67812;AAK61551;AAM21204;AAM21205;AAQ89026;ADZ16098;BAG51145;CBX53839;EAW78712;EAW78713;EAW78714;NP_064703;Q9UK58;XP_005247704;XP_005247705;XP_005247706;XP_005247707;XP_005247708;XP_006713773;XP_006713774 Hs.4859 1664327;1735114;1788632;1795490;2187353 CCNL1_509;D3S2788E;RH18144;STS-N34441;T03514 ANIA6A;BM-001;PRO1073;ania-6a OTTHUMP00000213318;OTTHUMP00000213319;cyclin L ania-6a;cyclin L gamma;cyclin-L;cyclin-L1 protein-coding ENSG00000163660 HGNC:20569 10814 613384 VALIDATED 1606146 CCNYL1 cyclin Y-like 1 ENCODES a protein that exhibits protein kinase binding (inferred); INVOLVED IN regulation of cyclin-dependent protein serine/threonine kinase activity (inferred); INTERACTS WITH all-trans-retinoic acid; cyclosporin A; hydrogen peroxide 2 2 2 q33.3 202338006 202382779 + 208576264 208620898 + 207711540 207756174 + 6480464 12477932;14702039;15302935;16341674;16344560;16712791;21139048;21890473;21906983;22505724 151195 C9IYB8;H7BZD2;H7C0P7;Q8N7R7 AA731590;ABBA01062688;ABBA01062689;AC096772;AK026922;AK095479;AK097751;AMYH02005646;AMYH02005647;AMYH02005648;BC047293;BC067253;BM772734;CB158848;CH471063;CN482952;DA730784;NM_001142300;NM_152523;XM_005246343;XR_241297 AAH67253;AAY24056;BAC05160;EAW70420;EAW70421;EAW70422;EAW70423;NP_001135772;NP_689736;Q8N7R7;XP_005246400 Hs.471234;Hs.597952 1649470;1851486;2111404;2132864;2163063;2163065 A001T14;D2S1504E;G19622;RH18275;RH45631;RH66675 FLJ40432 OTTHUMP00000163873;OTTHUMP00000206655;OTTHUMP00000206656;cyclin-Y-like protein 1 protein-coding ENSG00000163249 HGNC:26868 08809 VALIDATED 1346304 CCO central core disease of muscle ASSOCIATED WITH Malignant hyperthermia susceptibility type 1 (inferred); Minicore Myopathy with External Ophthalmoplegia (inferred); Myopathy, Central Core (inferred) 7240710 HGNC:1601 117000;145600;255320 1606616 CCNYL3 cyclin Y-like 3 6 16 p11.2 66650397 66703677 + 34257859 34292628 + 15616553 642326 P0C7X3 AC135776;CH471189;DW009600;XM_003846340 EAW54759;P0C7X3;XP_003846388 Hs.692710 Putative cyclin-Y-like protein 3 protein-coding HGNC:33206 1346524 CCNYL2 cyclin Y-like 2, pseudogene ENCODES a protein that exhibits protein kinase binding (inferred); INVOLVED IN regulation of cyclin-dependent protein serine/threonine kinase activity (inferred); INTERACTS WITH aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog); chloroprene (ortholog) 10 10 10 q11.21 38907092 38971132 - 42903622 42967688 - 42408174 42472240 - 6480464 12477932 414194 Q5T2Q4 ABBA01049988;ABBA01049989;AL391099;AMYH02022699;BC039000;NR_103829 Q5T2Q4 Hs.568048 1662472 G17488 C10orf21;CCNYL2P;bA178A10.2 OTTHUMP00000019474;chromosome 10 open reading frame 21;cyclin-Y-like protein 2 APPROVED pseudo ENSG00000182632 HGNC:23495 VALIDATED 1347341 CCNY cyclin Y Cyclins, such as CCNY, control cell division cycles and regulate cyclin-dependent kinases (e.g., CDC2; MIM 116940) (Li et al., 2009 [PubMed 18060517]).[supplied by OMIM, May 2009] 10 10 10 p11.21 35301299 35625598 + 35535953 35860848 + 35246981 35572670 + 6480464 11256614;12477932;14702039;15164054;15302935;15324660;15489334;16344560;16385451;17081983;18060517;18438405;18984674;19068216;19174780;19204726;19322201;19422935;19524571;20176734;20441050;20886065;21102463;21139048;21273179;21297633;21890473;22184064;22895054;24794231;24824184;8889548 219771 B7Z8E4;Q8ND76;R4GN48;R4GNF3 AA476431;ABBA01033334;ABBA01033335;ABBA01033336;ABBA01033337;ABBA01033338;ABBA01033339;ABBA01033340;ABBA01033341;ABBA01033342;ABBA01033343;AF413522;AF429969;AF465728;AF465729;AK024813;AK057280;AK303283;AK314666;AL117336;AL121749;AL592445;AL603824;AL834355;AMYH02022616;AMYH02022617;AMYH02022618;AMYH02022619;AMYH02022620;AMYH02022621;AMYH02022622;AMYH02022623;AMYH02022624;AY504868;BC015778;BC050310;BC069224;BC094815;BC104773;BC104801;BC143450;BC143455;BQ014589;BU159499;BU675909;CH471072;DB037034;NM_001282852;NM_001282853;NM_001282854;NM_145012;NM_181698;XM_005252388;XM_006717392 AAH69224;AAH94815;AAI04774;AAI04802;AAI43451;AAI43456;AAL07802;AAL78998;AAL78999;AAP97301;AAS79427;BAB71409;BAG37223;BAH13930;CAD39020;EAW85912;EAW85913;EAW85914;NP_001269781;NP_001269782;NP_001269783;NP_659449;NP_859049;Q8ND76;XP_005252445;XP_006717455 Hs.14745;Hs.564123;Hs.651463;Hs.714184 1338838;1644562;1647056;1647276;1648836;1671504;1701344;1724549;1736150;1767449;1767451;1789192;1849418;2113936;2123145;2148450;2155854;2165263;2165265;2168289;2171169;2171171;2178448;5094030 A006D26;A006E35;A010B05;AB071127;D10S1163;D10S1247;D10S1402E;D10S1868;D10S2357;G20724;G20748;G33065;G65595;HSC1TD072;RH104302;RH122534;RH15706;RH47247;RH48798;RH70372;SGC30806;SHGC-32774;STS-H67136;STS-T95622 C10orf9;CBCP1;CCNX;CFP1;FLJ95513;cyc-Y OTTHUMP00000019452;OTTHUMP00000019453;chromosome 10 open reading frame 9;cyclin box protein 1;cyclin fold protein 1;cyclin-X;cyclin-Y;cyclin-box carrying protein 1 APPROVED protein-coding ENSG00000108100 HGNC:23354 10700 612786 VALIDATED 1349625 CCR1 chemokine (C-C motif) receptor 1 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008] 3 3 3 p21 46180543 46187174 - 46243200 46249832 - 46201709 46208341 - 1580863;2307162;5688144;5688145;5688141;5688158;5688138;5688146;5688161;5688140;5688143;5688142;5688163;5688164;1582346;5688165;5688166;5688170;5688173;5688152;5688150;5688157;5688167;5688177;5688168;5688154;5688155;5508477;5688178;5688159;5688172;5688151;5688176;5688175;6480464;7241817 11687534;11875005;12742282;12860725;12874303;14512166;14595653;14655765;14674010;15153561;15254170;15368307;15593301;15654816;15716328;15951834;16399111;16493073;17016504;17234893;17312463;17641205;18088392;18158733;18396336;18608173;18844696;19280268;20053385;20410256;20500551;20870892;21332278;22916017 10094132;10202040;10583963;10660125;10702689;10706735;10734056;10770925;10910894;11085751;11110672;11116158;11449371;11470772;11804551;11832479;11920567;12070001;12085329;12270118;12477932;12651617;12763925;12794150;14530297;14637022;15001559;15039444;15053339;15103513;15265234;15337751;15474493;15489334;15548526;15764707;15927850;15950672;16182378;16226254;16323127;16621978;16837468;16969502;17135764;17192849;17298994;17336272;17389578;17464174;17558413;17914560;18178867;18240029;18311140;18559339;18577758;18587271;18972130;19017998;19423540;19553544;19603542;19664396;19687291;19693089;19913121;20015385;20056178;20086017;20154287;20190752;20406964;20429924;20438785;20628086;20634891;20802378;20921899;21148810;21942940;22007486;22104149;22650026;22727097;22829007;22842622;23054685;23125416;23217400;23219091;23233369;23276697;23291587;23846739;23876400;24056371;24157267;24778447;2834384;7505609;7545673;7594543;7679328;7683036;8011297;8530354;8626727;8631787;8699119;9115216;9143512;9289016;9346309;9558365;9886417 1230 P32246;Q5U003 ABBA01024719;AC104439;AI089760;AMYH02006668;BC051306;BC064991;BT019908;BT019909;BX337412;CH471055;CK903574;D10925;L09230;L10918;NM_001295 AAA36543;AAA58408;AAH51306;AAH64991;AAV38711;AAV38712;ACE86468;ACE87149;BAA01723;EAW64756;EAW64757;NP_001286;P32246 Hs.301921 1717043;1791408;1792074;1795494;2113058;2147049;2153985;2176523;5022828;5122239 CCR1_513;CCR1_mf;D3S3069;D3S3937;D3S4499;G15924;PMC109444P1;PMC135988P5;RH124084;STS-D10925 C-C CKR-1;CC-CKR-1;CCR-1;CD191;CKR-1;CKR1;CMKBR1;HM145;MIP1aR;SCYAR1 C-C chemokine receptor type 1;LD78 receptor;MIP-1alpha-R;OTTHUMP00000164655;RANTES receptor;RANTES-R;macrophage inflammatory protein 1-alpha receptor APPROVED protein-coding ENSG00000163823 HGNC:1602 03101 601159 REVIEWED 1605415 CCP110 centriolar coiled coil protein 110kDa INVOLVED IN centriole replication; centrosome duplication; regulation of cytokinesis; FOUND IN centriole; centrosome; protein complex; INTERACTS WITH 17beta-estradiol; 2-methylcholine; aflatoxin B1 16 16 16 p12.3 18684185 18713728 + 19535179 19564730 + 19523857 19553408 + 6480464 10493829;11076968;12221128;12361598;12477932;12852856;14654843;15342556;15489334;16244668;16275750;16344560;16368877;16462731;16760425;16964243;17681131;17719545;17765674;18694559;19322201;19460342;19481458;20596027;21139048;21145461;21620453;21982113;22261722;22441691;22505724;22684256;23486064;23602568;24255178;24816145;7790358;9455477 9738 B4DTZ1;H3BMS1;H3BVH3;I3L262;O43303 AB007879;ABBA01028263;ABBA01028264;AC003108;AC012621;AK300426;AK309196;AMYH02031649;BC030223;BC034140;BC036654;BP360952;BQ632514;BY798911;CB066937;CH471186;CN307903;CN307908;CR749255;DA250590;DA370828;DB504255;NM_001199022;NM_014711;XM_005255719;XM_005255721;XM_006721105 AAC05804;AAH36654;ABM82192;ABM85380;BAA24849;BAG62153;CAH18111;EAW50287;EAW50288;NP_001185951;NP_055526;O43303;XP_005255776;XP_005255778;XP_006721168 Hs.279912 2108739;2153224 CP110_8986;SHGC-60794 CP110;Cep110;DKFZp781G1416;KIAA0419 OTTHUMP00000162162;OTTHUMP00000162163;centriolar coiled-coil protein of 110 kDa;centrosomal protein CP110;centrosomal protein of 110 kDa APPROVED protein-coding ENSG00000103540 HGNC:24342 10848 609544 VALIDATED 5130598 CCR12P chemokine (C-C motif) receptor 12, pseudogene 13 13 13 q32.3 80903628 80904892 - 100060180 100061222 - 99407926 99408968 - 100133168 ABBA01027121;AL136961;AMYH02028589;NG_030243 GPR183P1 APPROVED pseudo HGNC:39812 INFERRED 1345616 CCR3 chemokine (C-C motif) receptor 3 The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009] 3 3 3 p21.3 46221217 46245543 + 46283872 46308197 + 46242381 46266706 + 1580863;4145618;4145620;4145645;4145642;4145622;4145634;4145633;4145623;4145617;4145454;4145395;4145646;4145643;4145619;1601020;4145638;4145111;4145632;6480464;6892918;6892922;6893445;6893393;4890013;6893388;6893454;6892923;6893390;6893394;6893409;6893428;6893387;6893391;6892916;6483834;6892920;6892921;6893427;6893389;6893392;6892917;6892919;6893426;8554872 11529927;11683586;12716450;1316818;15034073;15379987;15721839;16314464;16449815;16978084;17135764;17145927;17156343;17158890;17983872;18492752;18658092;18699933;18954648;19017998;19185001;19525930;19657453;19762220;19787232;19842835;19887061;19922414;20022477;20103664;20134116;20220260;20610836;20696593;20732990;21077277;21180278;21427490;21621198;21844117;21945903;22075493 10094132;10201960;10415069;10488147;10514402;10527858;10590105;10642580;10666479;10713092;10877489;10900353;10975800;11001881;11085751;11110785;11115360;11120849;11149986;11196669;11307756;11396683;11449371;11832479;11920572;11991282;11994538;12023397;12079287;12149192;12218106;12393570;12397598;12477932;12654630;12794150;12884299;12902471;14581140;14647058;14702039;14733956;15053339;15086398;15194768;15219825;15476879;15489334;15507393;15580493;15607028;15807893;15857508;15992849;16081847;16174786;16470129;16631222;16712896;16904155;16920975;17041228;17146638;17672867;17703412;17845580;18240029;18244953;18311140;18379861;18577758;18636124;18676680;18805825;18974840;19028820;19131662;19170196;19218218;19247692;19258923;19414538;19423540;19526283;19542083;19553323;19559392;19625176;19692168;19693089;19714638;19731977;20056178;20144207;20190752;20237496;20306659;20364559;20380698;20406964;20438785;20503287;20505746;20603037;20647273;20659406;20726325;20734064;20921899;20923436;21041734;21143381;21280323;21406396;21660963;21735070;21917937;22086059;22217447;22702503;22829007;22842622;23017229;23054685;23183094;23251661;23291587;23566847;23636060;23643185;23702389;23742077;23955446;24041034;7594543;7622448;8609214;8631813;8631926;8642344;8674119;8676064;8884276;9005985;9024664;9143512;9182688;9252350;9289016;9302298;9346309;9359702;9419219;9573273;9636210;9653051;9712872;9736741;9765440;9789057 1232 P51677;Q8TDP4;Q8TDP5 AB023887;ABBA01024719;AC104439;AF026535;AF224495;AF237381;AF247359;AF247360;AF247361;AF262299;AF262300;AF262301;AF262302;AF262303;AF262304;AMYH02006668;AMYH02006669;AX705064;AY221092;BC110297;BC130318;BC130320;CH471055;EF064760;FB584191;NM_001164680;NM_001837;NM_178328;NM_178329;U28694;U49727;U51241;XM_006712960 AAB09726;AAB16831;AAB82589;AAC50469;AAI10298;AAI30319;AAI30321;AAK49027;AAL85154;AAL85628;AAL85629;AAL85630;AAL85631;AAL85632;AAO65970;ABK41943;ADR82939;BAA86964;CAD88095;CAR96700;EAW64758;EAW64759;NP_001158152;NP_001828;NP_847898;NP_847899;P51677;XP_006713023 Hs.506190 1791404;1791410;1791434;1792076;1792610;1797358;2113062;2185906 CCR3_515;D3S4503;PMC109434P2;PMC109444P2;PMC110312P1;PMC135988P6;PMC155019P3;SHGC-76880 C-C CKR-3;CC-CKR-3;CCR-3;CD193;CKR3;CMKBR3;MGC102841 C-C chemokine receptor type 3;CC chemokine receptor 3;OTTHUMP00000164718;OTTHUMP00000209745;OTTHUMP00000209746;OTTHUMP00000209747;OTTHUMP00000209748;b-chemokine receptor;eosinophil CC chemokine receptor 3;eosinophil eotaxin receptor APPROVED protein-coding ENSG00000183625 HGNC:1604 03167 601268 REVIEWED 1322623 CCPG1 cell cycle progression 1 INVOLVED IN positive regulation of cell cycle; positive regulation of cell proliferation; FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH all-trans-retinoic acid; ampicillin; arsenite(3-) 15 15 15 q21.1 32536010 32589146 - 55647421 55700708 - 55355223 55408510 - 6480464 10574462;12477932;14702039;16344560;17092945;21145461;21906983;21963094;9383053 9236 H3BN32;H3BNE2;H3BPP4;H3BQN1;H3BR24;H3BTZ1;H3BV63;Q9ULG6 AA740595;AB033080;ABBA01039025;ABBA01039026;ABBA01039027;AC013355;AC018926;AF011794;AF212228;AK022459;AK292795;AL705964;AMYH02030485;AMYH02030486;BC015203;BC027621;BC029398;BC034914;BC039871;BC042826;CH471082;DA670725;DA720583;DB084778;NM_001204450;NM_001204451;NM_004748;NM_020739 AAB69314;AAH15203;AAH29398;AAH34914;AAH39871;AAK14914;ADZ15580;BAA86568;BAB14042;BAF85484;EAW77481;EAW77482;EAW77483;EAW77484;EAW77485;EAW77486;NP_001191379;NP_001191380;NP_004739;NP_065790;Q9ULG6 Hs.285051 1649118;1666777;1668480;1669913;1736492;1795616;2125874;2127347;2173010;2184087;5037552 CPR8_1467;D15S1310;D15S700E;D8S2279;RH65629;RH78638;SHGC-53386;STS-AA001419;WI-16128;WI-18393;WI-19318 CPR8;FLJ60574;KIAA1254 cell cycle progression 8 protein;cell cycle progression protein 1;cell cycle progression restoration protein 8 protein-coding ENSG00000260916 HGNC:24227 09895 611326 VALIDATED 1606584 CCR10 chemokine (C-C motif) receptor 10 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM, Mar 2008] 17 17 17 q21.1-q21.3 37486878 37489303 - 40831420 40833845 - 42679402 42681827 - 6480464 10706668;10725696;10725697;10781587;10975800;11298490;11821900;12477932;14667819;15489334;15700309;16460738;16675558;16785557;17071491;17474147;18240029;18308860;18577758;18782672;20237496;20947433;21075690;21937703;22350183;22526457;22944692;7851889;8889548;9364936 2826 K7EPC9;K7ER70;P46092 ABBA01006414;AC100793;AF208237;AF215981;AMYH02033434;AY429103;BC098132;BC098157;BC098304;BC099840;BM930170;CA423133;CH471152;NM_016602;U13667 AAA64593;AAF63709;AAF72871;AAH98132;AAH98157;AAH98304;AAH99840;AAR07898;ACE87769;ACT64432;EAW60866;NP_057686;P46092 Hs.744542 1792062 PMC135988P12 C-C CKR-10;CC-CKR-10;CCR-10;GPR2 C-C chemokine receptor type 10;CC chemokine receptor 10;G protein-coupled receptor 2;G-protein coupled receptor 2;OTTHUMP00000163143 APPROVED protein-coding HGNC:4474 02586 600240 VALIDATED 1318406 CCR6 chemokine (C-C motif) receptor 6 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q27 168267636 168294982 + 167525295 167554168 + 167111807 167139141 + 1580863;6480464;7483581;7483593;7483610;7483612;7483628;7483602;7483632;7483587;7488896;8549811;7483584;7483601;7483617;7483598 10843722;15287366;16454813;17379855;18384452;19428685;19662682;19917684;21624121;21742595;22048239;22287435;23192593;24114205 10521347;11001880;11164896;11714836;11751947;11994436;12067311;12070001;12081481;12149255;12193700;12477932;12514792;12642342;14574404;15483227;15489334;15591779;15701269;15972662;16095490;16215992;16344560;16621978;16622267;16641550;17075975;17133360;17171755;17562763;17615381;18097022;18218038;18240029;18465142;18577758;18587394;18703490;19233848;19249008;19305396;19324905;19423540;19492413;19539215;19760754;19811428;20022113;20023216;20056178;20068036;20194631;20220766;20334681;20379614;20406964;20438785;20439195;20453841;20453842;20459729;20483750;20511548;20526339;20526340;20570966;20634891;20720211;20872189;21072187;21092675;21102463;21228329;21261017;21300824;21398606;21724701;21763254;21873313;21912453;21935436;21937703;21949768;21984702;22079021;22092173;22269120;22490506;22527137;22732549;22796894;22842622;22859539;22926920;23128233;23306142;23599932;23681234;23758411;23765988;23790181;23835793;23850713;23935994;23959575;23983073;24133439;24385540;24390342;24401998;24559209;24634224;24782177;24890729;24958901;2834384;8125298;8886020;9070937;9169459;9186513;9223454;9294137;9294138 1235 P51684;Q53EZ5 ABBA01033434;AK223494;AK293015;AL121935;AMYH02014975;AMYH02014976;AY242126;BC037960;CD692892;CD707633;CH471051;DA645096;DN996219;NM_004367;NM_031409;U45984;U60000;U68030;U68031;U68032;Z79784 AAB06949;AAB62714;AAC51124;AAC51125;AAD14874;AAH37960;AAO92293;ABM83388;ABM86600;BAD97214;BAF85704;CAB02144;EAW47506;EAW47507;NP_004358;NP_113597;P51684 Hs.46468 1646712;1783888;1792080;1795498;2142027;2155042;5037552 CCR6_1762;D8S2279;PMC135988P8;RH46835;RH70644;SHGC-105352;STS-U68030 BN-1;C-C CKR-6;CC-CKR-6;CCR-6;CD196;CKR-L3;CKR6;CKRL3;CMKBR6;DCR2;DRY-6;DRY6;GPR-CY4;GPR29;GPRCY4;STRL22 C-C chemokine receptor type 6;G protein-coupled receptor 29;G-protein coupled receptor 29;LARC receptor;OTTHUMP00000017618;OTTHUMP00000017619;chemokine (C-C) receptor 6;chemokine receptor-like 3;seven-transmembrane receptor, lymphocyte, 22 APPROVED protein-coding ENSG00000112486;ENSG00000272980 HGNC:1607 03498 601835 REVIEWED 1347245 CCR7 chemokine (C-C motif) receptor 7 The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] 17 17 17 q12-q21.2 35371568 35383283 - 38710021 38721736 - 40553769 40565484 - 1580863;5130908;5130919;5130918;5130912;6480464;8549811 12626344;16394278;19783686;19917684;20176793 10607681;10706668;10741397;10861057;11145663;11242036;11359797;11507220;11602640;11830455;11861876;11929789;11970971;12023337;12070001;12149218;12477932;12486098;12642342;12673677;12729902;12799021;12851649;14592837;14990723;15034011;15040017;15059845;15073111;15122702;15247147;15265234;15284247;15304089;15489334;15569314;15674360;15743472;15753377;15778365;15867478;15950936;15972662;16115904;16223574;16225771;16249377;16272303;16278001;16278374;16278415;16344560;16494043;16500130;16621978;16690519;16786131;16802356;16857986;16887149;17006331;17032700;17178876;17192395;17431094;17440035;17587445;17687340;17890452;18065728;18166500;18235009;18240029;18308860;18310327;18319253;18379575;18437055;18497951;18544997;18577758;18623114;18664492;18696160;18802075;19068542;19074885;19087620;19136936;19196101;19287948;19423540;19513547;19536265;19536742;19540558;19585516;19615795;19731977;19749090;19862774;20029460;20036791;20056178;20150960;20237496;20406964;20438785;20439195;20651394;20811680;20855251;20889506;20889923;21048031;21071608;21081040;21092675;21165563;21165582;21261017;21347514;21464944;21548969;21624121;21680174;21698152;21731495;21735098;21739164;21739671;21953548;22020953;22043010;22132139;22158872;22163030;22221265;22251626;22334704;22350183;22438908;22498742;22533989;22619482;22634622;22659045;22700449;22718198;22797918;22821963;22842622;22923218;22990666;23028633;23100517;23290307;23333304;23363813;23449735;23469143;23498789;23519840;23587803;23747721;23888080;23922113;23939705;24040244;24052640;24111618;24136650;24138884;24311382;24528991;24595810;24673602;24751561;24760986;24766770;24910430;24912620;24915301;24952375;25015289;25019368;25142946;25168373;2834384;7488016;7851893;8383238;8889548;9153236;9507024;9585422;9725259;9743376 1236 A0N0Q0;J3KSS9;J3KTN5;P32248 ABBA01031824;AC004585;AK127810;AK310277;AK312732;AMYH02033403;AY587876;BC035343;BI910219;BU740631;CH471152;DA814913;EF064758;GN344041;HY017993;HY021417;L08176;L31581;L31584;NM_001301714;NM_001301716;NM_001301717;NM_001301718;NM_001838;X84702 AAA58615;AAA74230;AAA74231;AAH35343;AAT52232;ABK41941;ABM83040;ABM86234;BAG35603;BAG54575;CAY55956;EAW60669;NP_001288643;NP_001288645;NP_001288646;NP_001288647;NP_001829;P32248 Hs.370036 1792082;1794580;2159198;2177619;5095173 CCR7_s4;D17S2011;PMC135988P9;PMC321570P11;RH69039 BLR2;C-C CKR-7;CC-CKR-7;CCR-7;CD197;CDw197;CMKBR7;EBI1 Bukitt's lymphoma receptor 2;C-C chemokine receptor type 7;CC chemokine receptor 7;EBV-induced G protein-coupled receptor 1;EBV-induced G-protein coupled receptor 1;Epstein-Barr virus induced G-protein coupled receptor;Epstein-Barr virus induced gene 1;MIP-3 beta receptor;OTTHUMP00000164532;chemokine (C-C) receptor 7;epstein-Barr virus-induced G-protein coupled receptor 1;lymphocyte-specific G protein-coupled peptide receptor APPROVED protein-coding ENSG00000126353 HGNC:1608 02588 600242 REVIEWED 1347259 CCR4 chemokine (C-C motif) receptor 4 The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq, Jul 2008] 3 3 3 p24 32935667 32939047 + 32993066 32996403 + 32951574 32954911 + 1580863;2306304;2306306;2317610;6480464 12651599;12761880;15993846 10036181;10466728;10754297;11196669;11861261;12070001;12270118;12406880;12429730;12456591;12477932;12485447;12778466;14657875;15187160;15202833;15328188;15489334;15569983;15621800;15857508;15955100;17071491;17117949;17546636;18071306;18240029;18577758;18782672;19106589;19239991;19244125;19261691;19374191;19423540;19903885;19913121;19942450;20148806;20164417;20190752;20237293;20237496;20334681;20364559;20406964;20412707;20438785;20628086;20963786;21443538;21525208;21739422;22490506;22842622;23180648;23333304;23644599;23649168;23731651;24127572;24563252;7642634;8573157;8884276;9169480;9430724;9743322;9933589 1233 A0N0Q1;P51679 AB023888;AB023889;AB023890;AB023891;AB023892;ABBA01024915;AC137560;AK292674;AMYH02006509;AY322539;BC069139;BC071751;BC074935;CD639869;CD640816;CH471055;EF064759;NM_005508 AAH69139;AAH71751;AAH74935;AAP84352;ABK41942;BAA86965;BAA86966;BAA86967;BAA86968;BAA86969;BAF85363;EAW64440;EAW64441;NP_005499;P51679 Hs.184926 1657809;1660539;1682223;1792078;1795496;2113064;5020881;5021369;5037552;5492735 CCR4_517;D3S4501;D8S2279;G29868;L17709;L17796;PMC135988P7;RH91673;SHGC-76800;UniSTS:482160 C-C CKR-4;CC-CKR-4;CCR-4;CD194;CKR4;CMKBR4;ChemR13;HGCN:14099;K5-5;MGC88293 C-C chemokine receptor type 4;OTTHUMP00000161317;chemokine (C-C) receptor 4 APPROVED protein-coding HGNC:1605 05324 604836 REVIEWED 1603716 CCR2 chemokine (C-C motif) receptor 2 This gene encodes two isoforms of a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The receptors encoded by this gene mediate agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This gene is located in the chemokine receptor gene cluster region. Two alternatively spliced transcript variants are expressed by the gene. [provided by RefSeq, Mar 2009] 3 3 3 p21.31 46332557 46339734 + 46395235 46402413 + 46353744 46360922 + 2313557;2313561;2313563;2313564;2313558;2307043;2313562;4891443;4145124;4145109;4144893;4144896;4144897;734715;4144894;4145065;4144888;4144903;4145002;4145106;4145110;4145126;4144898;4145111;4145068;632391;4144890;4145064;6480464;8661788;8549811;4892017;8661671;8661685;8661698;8661749;8661227;8661772;8657358;7794843;8661636;8661704;8661721;8661733;8661751;9479741;8661717;8661224;8657383;8661712;8661745;8661719;8661727;8661637;7483612;8661728;8657357;8657362;8548831;4890034;8657365;8661694;8661734;9491750;8551811;8554872;8661707;8661731;8661687;5688168;8661781;8661785;8551831;8657364;8551842;8661669;8661683;8551817;8657356;8657360;8657363;8661752 10400139;10438957;10899907;10946288;11438742;11518728;11756347;12605265;12770795;12827053;12874303;12925209;14615370;14662900;15370700;15743780;15772970;15786508;16095529;16101967;16320322;16631114;16857270;17075702;17135764;17222215;17284325;17298432;17417600;17631861;17672867;17982926;18076762;18095591;18096169;18172114;18187693;18338959;18419759;18513341;19159432;19277603;19357362;19421039;19597109;19733456;19741601;19917684;20042590;20059422;20113782;20152938;20153665;20543668;20582977;20836883;21241302;21264360;21570337;21883707;22205983;22287435;22377584;22721162;22789920;22848538;23022404;23074996;23142052;23185004;23454776;23511129;23727176;24142887;24462503;24631631;24736166;24818662;24907405;9655467 10201901;10479649;10486323;10529171;10623817;10741397;10751368;10877489;10888629;10985245;11023492;11046064;11115360;11120855;11175286;11181995;11264152;11350939;11377705;11385319;11468722;11470772;11477473;11485615;11500196;11590385;11596075;11694103;11696224;11709782;11729511;11752157;11779135;11782014;11804551;11856781;11860793;11860823;11873083;11898620;11958683;11964548;11988632;12001056;12010355;12032878;12070001;12078856;12079277;12082592;12149192;12192431;12201365;12215924;12239249;12271471;12374865;12399623;12403355;12426226;12436194;12445801;12447757;12469616;12477932;12556692;12557141;12571520;12584049;12651900;12654703;12680626;12719858;12837756;12853162;12853745;12882757;12884524;12889997;12913933;13678532;14533004;14533983;14624371;14644039;14647058;14742283;14981141;15053339;15076247;15086346;15086398;15135805;15140377;15192276;15230854;15236615;15257681;15319853;15362666;15458467;15465089;15466648;15472820;15488313;15489334;15575507;15579296;15585333;15602133;15611878;15639953;15721423;15750046;15754978;15769362;15793370;15863470;15929697;15976001;15980693;15992849;15995708;16033640;16055130;16123688;16140745;16196460;16206074;16207551;16261210;16286054;16286055;16305685;16314800;16320328;16323127;16344560;16356504;16415174;16426243;16461193;16478397;16480760;16485782;16524739;16529059;16598837;16621978;16641997;16733654;16781696;16831471;16858645;16865553;16903979;16908772;16950632;17060059;17091019;17094383;17216598;17240189;17295203;17355643;17361671;17364026;17395051;17413295;17426779;17428349;17464174;17465499;17482150;17499741;17504503;17558413;17560067;17596666;17604544;17615573;17653321;17664883;17688234;17703277;17703412;17704101;17715128;17786209;17845302;17917677;17934338;17989610;18055544;18060801;18093816;18164016;18186797;18197127;18240029;18306985;18332000;18391751;18577758;18587271;18615095;18633131;18676680;18763111;18829011;18845960;18846510;18855658;18928397;18936436;18974840;18977759;18996288;19002595;19017998;19028820;19032065;19037908;19055601;19064579;19082218;19098363;19124913;19131662;19170196;19196047;19225544;19258923;19263529;19411748;19420105;19433914;19465829;19479237;19506371;19520154;19526283;19527467;19535619;19559392;19578796;19625176;19643177;19669591;19692168;19693089;19720836;19841162;19904283;19917610;19942750;19950235;19958843;19965779;20017911;20038229;20066125;20181074;20182805;20190752;20220260;20231199;20339010;20364004;20380698;20411675;20442634;20449800;20452482;20483750;20485444;20503287;20531015;20536507;20537184;20603037;20605053;20628649;20637631;20673868;20681057;20726788;20740585;20808917;20842059;20947712;21054877;21091093;21097527;21097672;21146687;21148810;21220372;21322034;21348591;21396623;21429204;21440726;21450101;21461583;21527853;21602126;21667221;21682549;21868018;21890375;22026334;22041342;22081934;22086059;22159219;22183310;22197827;22218121;22226505;22276574;22285384;22479344;22554651;22607625;22612293;22615942;22685564;22752804;22815949;22842622;22909007;22927430;23007133;23041556;23057571;23090289;23185481;23185512;23251661;23298254;23325742;23374597;23376609;23408426;23427179;23612252;23632061;23657965;23686489;23771498;23846739;23876399;23880174;23922698;24011637;24078580;24083412;24098976;24128342;24185682;24327013;24332572;24406043;24453913;24639350;24778447;2834384;8048929;8146186;8530354;8884276;8995400;9058802;9115216;9143512;9195948;9225989;9252328;9287323;9501202;9548499;9653051;9662369;9670957;9710230;9736741;9789057;9886417 729230 E9PH76;P41597 ABBA01024718;AC098613;AC138069;AF545480;AK292685;AK292920;AMYH02006670;AV715904;AX705062;BC074751;BC095540;BC126452;BC136396;BQ027284;BX101672;CH471055;D29984;DA927445;DC401093;DC418358;NG_021428;NM_001123041;NM_001123396;U03882;U03905;U80924;U95626;X95583 AAA19119;AAA19120;AAB57791;AAB57792;AAC51636;AAC51637;AAH74751;AAH95540;AAI26453;AAI36397;AAN16400;ADR82956;BAA06253;BAF85374;BAF85609;CAA64835;CAD88094;EAW64760;EAW64761;EAW64762;NP_001116513;NP_001116868;P41597 Hs.511794;Hs.705362 1705790;1793518;2113060;2136631;2141859;2156502 D3S4500;PMC228408P2;SHGC-76910;SHGC-76923;SHGC-78976;WI-9314 C-C CKR-2;CC-CKR-2;CCR-2;CCR2A;CCR2B;CD192;CKR2;CKR2A;CKR2B;CMKBR2;FLJ78302;MCP-1-R;MGC103828;MGC111760;MGC168006 C-C chemokine receptor type 2;MCP-1 receptor;OTTHUMP00000209947;OTTHUMP00000209948;OTTHUMP00000209949;monocyte chemoattractant protein 1 receptor;monocyte chemotactic protein 1 receptor APPROVED protein-coding ENSG00000121807 HGNC:1603 601267 REVIEWED 1352272 CCR9 chemokine (C-C motif) receptor 9 The protein encoded by this gene is a member of the beta chemokine receptor family. It is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are key regulators of the thymocytes migration and maturation in normal and inflammation conditions. The specific ligand of this receptor is CCL25. It has been found that this gene is differentially expressed by T lymphocytes of small intestine and colon, suggested a role in the thymocytes recruitment and development that may permit functional specialization of immune responses in different segment of the gastrointestinal tract. This gene is mapped to the chemokine receptor gene cluster region. Two alternatively spliced transcript variants have been described. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 3 3 3 p21.3 45865603 45882297 + 45927996 45944667 + 45886504 45903175 + 1580863;5130925;6480464 16210593 10229797;10498628;10544196;10602049;10640743;10702689;10974041;11046037;12477932;12816994;14559839;15489334;15623660;15717282;16344560;17205512;17570212;18240029;18245518;18245522;18308860;18577758;19423540;19525985;19756884;20036838;20056178;20081876;20190752;20406964;20438785;20738854;20947433;21075690;21344163;21511186;21637913;21984373;23326330;23333304;24606696;24828696;2834384 10803 B2R734;C9JWC0;P51686 ABBA01024720;AC099782;AF145207;AF145439;AF145440;AJ132337;AK312824;AK313366;AMYH02006668;AY242127;BC069678;BC095516;CH471055;DB103756;DB132476;NG_029472;NG_033917;NM_001256369;NM_006641;NM_031200;U45982 AAA93319;AAD38539;AAF66699;AAF66700;AAH69678;AAH95516;AAO92294;BAG35681;BAG36166;CAB43477;EAW64751;EAW64752;NP_001243298;NP_006632;NP_112477;P51686 Hs.225946 1778710;1792060;1795502;2152987;5095175 CCR9_300;CCR9_mf;PMC135988P11;RH70643;STS-U45982 C-C CKR-9;CC-CKR-9;CCR-9;CDw199;GPR-9-6;GPR28 C-C chemokine receptor type 9;G protein-coupled receptor 28;G-protein coupled receptor 28;OTTHUMP00000164653;OTTHUMP00000164654 APPROVED protein-coding ENSG00000173585 HGNC:1610 09200 604738 REVIEWED 1343576 CCRL1P1 chemokine (C-C motif) receptor-like 1 pseudogene 6 6 6 q24.1 139883942 139885798 + 139143844 139145700 + 138822707 138824563 + 285737 ABBA01025805;AL121834;AMYH02014585;NG_005663 CCRL1P;dJ509I19.4 APPROVED pseudo HGNC:21142 INFERRED 1349348 CCRN4L CCR4 carbon catabolite repression 4-like (S. cerevisiae) The protein encoded by this gene is highly similar to Nocturnin, a gene identified as a circadian clock regulated gene in Xenopus laevis. This protein and Nocturnin protein share similarity with the C-terminal domain of a yeast transcription factor, carbon catabolite repression 4 (CCR4). The mRNA abundance of a similar gene in mouse has been shown to exhibit circadian rhythmicity, which suggests a role for this protein in clock function or as a circadian clock effector. [provided by RefSeq, Jul 2008] 4 4 4 q31.1 137269087 137299202 + 139936913 139967093 + 139015759 139045939 + 1580863;6480464 10521507;11394964;12477932;16821125;18587630;19913121;20628086;22547059;23922759 25819 Q8WTX0;Q9UK39 ABBA01069940;ABBA01069941;ABBA01069942;ABBA01069943;ABBA01069944;ABBA01069945;AC093602;AF183961;AF199492;AF199493;AF199494;AMYH02010192;BC021963;BC023512;BC077723;BC113494;BC113500;CH471056;HY067201;NM_012118 AAD56548;AAG01387;AAG01388;AAG01389;AAH21963;AAH23512;AAH77723;AAI13495;AAI13501;EAX05129;EAX05130;EAX05131;NP_036250;Q9UK39 Hs.639842;Hs.656047 2160497;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;SHGC-67987 CCR4L;Ccr4c;MGC142054;MGC142060;MGC4120817;MGC78549;NOC CCR4 protein homolog;CCR4-like (carbon catabolite repression 4, S.cerevisiae);OTTHUMP00000164538;carbon catabolite repression 4-like protein;circadian deadenylase NOC;nocturnin APPROVED protein-coding ENSG00000151014 HGNC:14254 16337 608468 REVIEWED 1312592 CCR8 chemokine (C-C motif) receptor 8 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. [provided by RefSeq, Jul 2008] 3 3 3 p22 39312784 39316758 + 39371197 39375171 + 39329706 39333680 + 1580863;2306304;6480464;8554872 15993846 10469138;10540332;10888633;10910894;11007922;11804551;12163566;12477932;12525579;12547701;12551893;12645948;12832759;12967681;14576057;15053339;15489334;15814739;15992849;16631222;17023422;17082609;17558413;17641040;17693327;18240029;18577758;19074885;19423540;20237496;20406964;20438785;20455898;21976223;22479563;22842622;23043070;23363815;23811304;23999500;24041034;8816377;8886020;8977299;9207005;9211859;9417093;9469461;9480837;9521068;9670926 1237 C9JIP9;P51685 ABBA01024806;AC104850;AF005210;AK314957;AMYH02006586;AY016370;BC069067;BC074743;BC107152;BC107159;CH471055;D49919;NM_005201;U45983;U62556;Y08456;Z79782 AAB05542;AAB61962;AAB62547;AAH69067;AAH74743;AAI07153;AAI07160;AAK08628;BAA23387;BAG37461;CAA69712;CAB02142;EAW64577;NP_005192;P51685 Hs.113222 1791406;1792058;1792608;1795500;2113716 CCR8;CCR8_521;PMC109434P3;PMC135988P10;PMC155019P2 C-C CKR-8;CC-CKR-8;CCR-8;CDw198;CKR-L1;CKRL1;CMKBR8;CMKBRL2;CY6;GPR-CY6;GPRCY6;MGC129966;MGC129973;TER1 C-C chemokine receptor type 8;CC chemokine receptor 8;CC chemokine receptor CHEMR1;CC-chemokine receptor chemr1;OTTHUMP00000161964;chemokine (C-C) receptor 8;chemokine (C-C) receptor-like 2;chemokine receptor-like 1 APPROVED protein-coding ENSG00000179934 HGNC:1609 03497 601834 REVIEWED 1323460 CCRL2 chemokine (C-C motif) receptor-like 2 This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. [provided by RefSeq, Jul 2008] 3 3 3 p21 46386028 46388321 + 46448721 46454488 + 46407230 46409523 + 6480464 12477932;14530373;15188357;15489334;16641997;18794339;20002784;20056178;20190752;20677014;21502085;22046140;23142225;9143512;9473515 9034 B2R8C0;C9JP23;O00421 ABBA01024714;ABBA01024715;AC098613;AF015524;AF015525;AJ344142;AK296673;AK313312;AMYH02006670;BC071682;BC096075;BC096076;CH471055;CQ882060;CS115011;CS115013;DC387981;NM_001130910;NM_003965;U95626 AAB57794;AAC34601;AAC34602;AAH71682;AAH96075;AAH96076;ABM83028;ABM86222;BAG36117;BAG59270;CAC82985;CAH60289;CAJ15094;CAJ15095;EAW64765;EAW64766;NP_001124382;NP_003956;O00421 Hs.535713 1795504 CCRL2_302 ACKR5;CKRX;CRAM;CRAM-A;CRAM-B;FLJ55815;HCR;MGC116710;MGC34104 C-C chemokine receptor-like 2;OTTHUMP00000209758;OTTHUMP00000209759;OTTHUMP00000209785;OTTHUMP00000209787;atypical chemokine receptor 5;chemokine receptor CCR11;chemokine receptor X;putative MCP-1 chemokine receptor APPROVED protein-coding ENSG00000121797 HGNC:1612 16327 608379 REVIEWED 1602440 CCSAP centriole, cilia and spindle-associated protein INVOLVED IN regulation of cilium beat frequency involved in ciliary motility (ortholog); regulation of embryonic development (ortholog); FOUND IN axon; axoneme; centriole; INTERACTS WITH calcitriol; disodium selenite; formaldehyde 1 1 1 q42.13 202725069 202747007 - 229456752 229478688 - 229321005 229342941 - 6480464 12477932;14702039;22493317 126731 Q6IQ19 ABBA01009820;AK094615;AK123465;AK291437;AL117350;AMYH02002866;BC015419;BC039241;BC060777;BC071609;CH471098;KF455154;NM_145257 AAH15419;AAH39241;AAH60777;AAH71609;BAC85619;BAF84126;EAW69897;NP_660300;Q6IQ19 Hs.585011 1652625;1668812;1849922;2129866;2158069 A003A05;G31076;RH64648;SHGC-34833;WIAF-1548 C1orf96;CSAP;FLJ37296;FLJ41471;RP4-803J11.3 OTTHUMP00000035777;centriole and spindle-associated protein;hypothetical protein LOC126731;uncharacterized protein C1orf96 APPROVED protein-coding ENSG00000154429 HGNC:29578 14035 VALIDATED 1351344 CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 46348960 46355024 + 46411633 46417697 + 46370142 46376206 + 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90944;9971818 1234 A0A502;P51681;Q38L21 AB182984;AB182988;AB182990;ABBA01024718;AC098613;AF009962;AF011500;AF011501;AF011502;AF011503;AF011504;AF011505;AF011506;AF011507;AF011508;AF011509;AF011510;AF011511;AF011512;AF011513;AF011514;AF011515;AF011516;AF011517;AF011518;AF011519;AF011520;AF011521;AF011522;AF011523;AF011524;AF011525;AF011526;AF011527;AF011528;AF011529;AF011530;AF011531;AF011532;AF011533;AF011534;AF011535;AF011536;AF011537;AF031237;AF052244;AF052539;AF056020;AF161909;AF161910;AF161911;AF161912;AF161913;AF161914;AF161915;AF161916;AF161917;AF161918;AF161919;AF161920;AF161921;AK292132;AK314882;AMYH02006670;AX256200;AX705068;AY221093;AY463213;AY463214;AY463215;AY744141;AY874119;AY874120;AY874121;BC038398;CH471055;DA818906;DQ217934;EF408698;EF408699;EF408700;FB584189;GQ917109;HC295434;JQ291182;JQ291183;JQ291184;JQ291185;JQ291186;JQ291187;JQ291188;JQ291190;JQ291191;JQ291192;JQ291193;JQ291194;JQ291195;JQ291196;JQ291197;JQ291198;JQ291199;JQ291200;JQ291201;JQ291202;JQ291203;JQ291204;JQ291205;JQ291206;JQ291207;JQ291208;JQ291209;JQ291210;JQ291211;JQ291212;JQ291213;JQ291214;JQ291215;JQ291216;JQ291217;JQ291218;JQ291219;JQ291220;JQ291221;JQ291222;JQ291223;JQ291224;KC248080;KC248081;KC248082;KC248083;KC248084;KC248085;KC248086;KC248087;KC248089;NG_012637;NM_000579;NM_001100168;U54994;U57840;U66285;U83326;U95626;X91492;X99393 AAB09551;AAB17071;AAB57793;AAB65700;AAB65701;AAB65702;AAB65703;AAB65704;AAB65705;AAB65706;AAB65707;AAB65708;AAB65709;AAB65710;AAB65711;AAB65712;AAB65713;AAB65714;AAB65715;AAB65716;AAB65717;AAB65718;AAB65719;AAB65720;AAB65721;AAB65722;AAB65723;AAB65724;AAB65725;AAB65726;AAB65727;AAB65728;AAB65729;AAB65730;AAB65731;AAB65732;AAB65733;AAB65734;AAB65735;AAB65736;AAB65737;AAB94735;AAC23944;AAC50598;AAC51797;AAD18131;AAD47666;AAD47667;AAD47668;AAD47669;AAD47670;AAD47671;AAD47672;AAD47673;AAD47674;AAD47675;AAD47676;AAD47677;AAD47678;AAF65577;AAF65579;AAH38398;AAO65971;AAS19312;AAS19313;AAS19314;AAW62445;AAW82037;AAW82038;AAW82039;ABB01004;ABQ95606;ABQ95607;ABQ95608;ACX50405;AEZ06624;AEZ06625;AEZ06626;AEZ06627;AEZ06628;AEZ06629;AEZ06630;AEZ06632;AEZ06633;AEZ06634;AEZ06635;AEZ06636;AEZ06637;AEZ06638;AEZ06639;AEZ06640;AEZ06641;AEZ06642;AEZ06643;AEZ06644;AEZ06645;AEZ06646;AEZ06647;AEZ06648;AEZ06649;AEZ06650;AEZ06651;AEZ06652;AEZ06653;AEZ06654;AEZ06655;AEZ06656;AEZ06657;AEZ06658;AEZ06659;AEZ06660;AEZ06661;AEZ06662;AEZ06663;AEZ06664;AEZ06665;AEZ06666;AGC13086;AGC13087;AGC13088;AGC13089;AGC13090;AGC13091;AGC13092;AGC13093;AGC13095;BAD83805;BAD83807;BAD83808;BAF84821;CAA62796;CAA67767;CAC94550;CAD88097;CAR96699;CBJ06541;EAW64763;EAW64764;NP_000570;NP_001093638;P51681 Hs.450802 1684280;1795234;2113066;2145264 CCR5_4;D3S4504;RH65248;STS-X91492 C-C CKR-5;CC-CKR-5;CCCKR5;CCR-5;CD195;CKR-5;CKR5;CMKBR5;FLJ78003;IDDM22;chemr13 C-C chemokine receptor type 5;C-C motif chemokine receptor 5 A159A;HIV-1 fusion coreceptor;OTTHUMP00000209784;chemokine receptor CCR5 APPROVED protein-coding HGNC:1606 03223 601373;609532;610379;612522 REVIEWED 1350851 CCT cataract, congenital, total ASSOCIATED WITH Cataract, congenital, with microcornea or slight microphthalmia (inferred); Encephaloclastic Proliferative Vasculopathy (inferred) 7240710 907 HGNC:1614 225790;302200 1602258 CCSER1 coiled-coil serine-rich protein 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; cocaine 4 4 4 q22.1 88345830 89813662 + 91048684 92523370 + 90127533 91602219 + 6480464;8554872 11214970;12477932;14702039;16344560;17043677;20379614;20607790;22952603;23319000;23665203;23725790;24529757 401145 D6RAM2;D6RAM6;D6RB70;E7EUW0;H0Y9F8;H0YA74;H0YAI2;Q9C0I3 AB051467;ABBA01063572;ABBA01063573;ABBA01063574;ABBA01063575;ABBA01063576;ABBA01063577;ABBA01063578;ABBA01063579;ABBA01063580;ABBA01063581;ABBA01063582;ABBA01063583;ABBA01063584;ABBA01063585;AC004054;AC019188;AC074124;AC079301;AC093729;AC093781;AC093793;AC096897;AC097524;AC098593;AC108038;AC110774;AC110796;AC114787;AK097436;AK310825;AMYH02009715;AMYH02009716;AMYH02009717;AMYH02009718;AMYH02009719;AMYH02009720;AMYH02009721;AMYH02009722;AMYH02009723;AMYH02009724;AMYH02009725;AMYH02009726;AMYH02009727;AMYH02009728;BC021681;BC051694;BC073917;CH471057;DB027029;KF457784;KF457788;KF457792;NM_001145065;NM_207491 AAH51694;AAY41009;BAB21771;EAX06039;EAX06040;NP_001138537;NP_997374;Q9C0I3 Hs.654735 1335075;1339337;1339629;1341213;1342064;1644830;1645910;1650120;1659656;1662908;1668568;1677190;1678087;1693834;1705734;1716509;1720737;1723349;1727761;1748539;1750029;1750537;1753227;1763759;1764107;1767577;1769114;1775730;1776044;1791131;1847109;1898922;2121449;2129230;2132235;2133686;2134265;2136166;2137468;2140392;2140549;2141372;2141374;2142188;2153113;2153249;2162838;2164031;2166935;2170223;2174388;2178434;2182111;2220478;7185518;7186703;7187587 1150;AFM284yd1;D4S1089;D4S1107;D4S1209;D4S1323;D4S2661;D4S2671;D4S3006;D4S3245;D4S410;D4S414;D4S423;D4S606;D4S840;D4S989;G01804;G01929;G10351;G33499;G34396;G42602;G59342;G63146;REN20257;RH118491;RH121540;RH47751;RH91868;SHGC-110017;SHGC-111720;SHGC-111846;SHGC-14164;SHGC-147437;SHGC-147758;SHGC-24700;SHGC-24735;SHGC-24782;SHGC-25060;SHGC-30515;SHGC-33181;SHGC-36063;SHGC-50235;SHGC-50631;SHGC-51204;SHGC-51723;SHGC-51765;SHGC-59789;SHGC-67737;SHGC-67797;SHGC-83457;SHGC4-1700;UniSTS:483400;px-16e8 FAM190A;KIAA1680;MGC48628 OTTHUMP00000219397;OTTHUMP00000219519;OTTHUMP00000219520;family with sequence similarity 190, member A;serine-rich coiled-coil domain-containing protein 1 APPROVED protein-coding ENSG00000184305 HGNC:29349 17561 VALIDATED 3029011 CCT3P1 chaperonin containing TCP1, subunit 3 (gamma) pseudogene 1 8 8 8 p22 15097944 15098544 + 16133186 16133786 + 16275677 16276277 + 20193073 646440 ABBA01021595;AC087360;AMYH02017513;NG_022409 CCT3-1P pseudo HGNC:35129 INFERRED 733606 CCS copper chaperone for superoxide dismutase Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008] 11 11 11 q13 63692424 63699333 + 66360630 66373490 + 66593159 66606019 + 1580863;1300048;6480464;6907045;8554872 10221913;10677207;10773661;10790544;11018045;11115513;11991808;12477932;12832419;12968035;15265083;15324660;15489334;15736924;16132821;16531609;17601350;17683925;18393442;18552350;18977241;19007184;19227972;20154138;20693630;21139048;21354101;21722094;21926972;22508683;22869735;23900152;24026195;24250222;24297923;9295278;9726962;9886096 9973 E9PK03;E9PP76;J3KNF4;O14618 ABBA01024071;ABBA01024072;AF002210;AMYH02024979;AP001157;AY113179;BC105016;BC112055;CH471076;CR541928;NG_008733;NM_005125;XR_247219 AAC51764;AAI05017;AAI12056;AAM50090;CAG46726;EAW74549;EAW74550;EAW74551;NP_005116;O14618 Hs.502917 1649371;1769821;1791354;1791356;1791358;1791360;1791362;1791364;2109117 CCS_9025;PMC107843P1;PMC107843P2;PMC107843P3;PMC107843P4;PMC107843P5;PMC107843P6;RH41832;WI-19549 MGC138260 OTTHUMP00000235518;OTTHUMP00000235519;OTTHUMP00000235520;superoxide dismutase copper chaperone APPROVED protein-coding ENSG00000173992 HGNC:1613 04841 603864 REVIEWED 1312172 CCSER2 coiled-coil serine-rich protein 2 ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN microtubule bundle formation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN microtubule cytoskeleton (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; cyclosporin A 10 10 10 q23.1 80084093 80273189 + 86088342 86278276 + 84328586 84518521 + 737633;6480464;8554872 12477932 10574461;14702039;16169070;16385451;17043677;20360068;20379614;21832049;21900206;24250222;24255178;8619474 54462 Q9H7U1 AB032954;ABBA01003755;AC074321;AF241785;AI001725;AK024324;AK098675;AK294321;AK298966;AL356115;AMYH02023451;AMYH02023452;AMYH02023453;AMYH02023454;AMYH02023455;BC020910;BC030528;BQ028021;BQ440427;BU599757;BX640691;CH471142;CR991891;CS185543;DC349473;DR433316;KF455270;NM_001284240;NM_001284241;NM_001284242;NM_001284243;NM_018999;U90912;XM_005269905;XM_005269906;XM_005269908;XM_006717894;XM_006717895 AAG44473;AAH30528;BAA86442;BAB14884;BAG57595;BAG61061;CAE45815;CAJ42724;EAW80349;EAW80350;EAW80351;EAW80352;NP_001271169;NP_001271170;NP_001271171;NP_001271172;NP_061872;Q9H7U1;XP_005269962;XP_005269963;XP_005269965;XP_006717957;XP_006717958 Hs.461988 1656890;1700270;1736112;1850995;1855584;2162607;5015861;5015961;5022578;5094973;7185938 D10S1384E;D10S16;D10S2175;D15S1477;D1S1423;RH103752;SGC34764;STS-AA010256;TNPO1;WI-20479 FAM190B;FLJ14262;FLJ25809;Gcap14;KIAA1128;bA486O22.1 OTTHUMP00000020001;family with sequence similarity 190, member B;granule cell antiserum positive 14;protein GCAP14 homolog;serine-rich coiled-coil domain-containing protein 2 APPROVED protein-coding ENSG00000107771 HGNC:29197 13832 VALIDATED 1352326 CCT2 chaperonin containing TCP1, subunit 2 (beta) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 12 12 12 q15 69642857 69659010 + 69979206 70010595 + 69585428 69601577 + 1580863;6480464 10404219;10748209;11532003;11580269;12477932;12665801;14532270;15324660;15489334;15635413;16009940;16055720;16085932;16196087;16236267;16335966;16497536;16712791;17314511;17550899;17643375;18029348;18391951;18654987;18715871;18775504;18781797;18782753;18976975;19056867;19135240;19156129;19332537;19380743;19738201;19851296;20198315;20562859;20573828;20639865;20697350;21081666;21110914;21139048;21145461;21319273;21382349;21525035;21572988;21726808;21890473;21906983;21942715;21963094;21987572;22053931;22079093;22145905;22268729;22304920;22354994;22505724;22586326;22623428;22810585;22863883;22939629;23000965;23077236;23125841;23166591;23184937;23190606;23349634;23383273;23398456;23402259;23438482;23443559;23455922;23658844;23752268;24298020;24375412;24550385;24583282;24654937;24816145;7953530;9819444 10576 F5GWF6;F8VQ14;P78371;V9HW96 AA401491;AB451223;AB451346;ABBA01026537;AC018921;AF026166;AF026293;AK290767;AK294307;AK297685;AK302157;AK316397;AK316408;AMYH02026713;BC113514;BC113516;BT019966;CB138063;CH471054;CR457071;FJ224351;NM_001198842;NM_006431;U91327 AAB67249;AAC96012;AAC98906;AAI13515;AAI13517;AAV38769;ACI46043;ADR83037;BAF83456;BAG70037;BAG70160;BAH11729;BAH12649;BAH13640;BAH14768;BAH14779;CAG33352;EAW97228;EAW97229;EAW97230;NP_001185771;NP_006422;P78371 Hs.189772 1674075;1674163;1731869;2122732;2157398;5013962;5127028 D12S384E;MARC_36444-36445:1067884409:1;RH44186;RH48183;RH69725;SHGC-60534;WI-19751 99D8.1;CCT-beta;CCTB;HEL-S-100n;MGC142074;MGC142076;PRO1633;TCP-1-beta OTTHUMP00000240975;OTTHUMP00000240976;OTTHUMP00000240977;OTTHUMP00000240978;T-complex protein 1 subunit beta;T-complex protein 1, beta subunit;chaperonin containing t-complex polypeptide 1, beta subunit;chaperonin containing t-complex polypeptide 1, subunit 2;epididymis secretory sperm binding protein Li 100n APPROVED protein-coding ENSG00000166226 HGNC:1615 06895 605139 REVIEWED 1345648 CCT4 chaperonin containing TCP1, subunit 4 (delta) The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM, Mar 2008] 2 2 2 p15 61940173 61960736 - 62095262 62115806 - 61868127 61888671 - 1580863;6480464 10604479;11580270;11689615;12477932;12665801;14532270;15489334;15815621;15852347;15967112;16009940;16055720;16085932;16196087;16335966;16341674;16344560;16497536;17081065;17110338;17314511;17550899;17643375;18029348;18715871;18775504;18781797;18782753;19135240;19156129;19380743;19738201;20193073;20473970;21081666;21139048;21145461;21319273;21360678;21525035;21726808;21853274;21890473;21900206;21906983;21942715;21963094;21987572;22053931;22079093;22268729;22304920;22505724;22623428;22810585;22863883;22939629;23000965;23077236;23125841;23184937;23349634;23383273;23398456;23438482;23443559;23455922;23463506;23612981;23658844;23752268;23862649;24298020;24320561;24583282;24816145;7953530;8626763;8661059;8889549;9153422;9819444 10575 B7Z2F4;B7Z9L0;P50991 AA136129;ABBA01075372;ABBA01075373;AC107081;AF026291;AI439570;AK129860;AK290538;AK294665;AK295330;AK303082;AK307856;AK308942;AK312586;AK315975;AL555753;AMYH02003936;AU128145;BC014676;BC093446;BC106933;BC106934;BM765256;CD369623;CH471053;DB461009;NM_001256721;NM_006430;U38846 AAC50384;AAC96010;AAH14676;AAI06934;AAI06935;AAY24140;ABZ92292;BAF83227;BAG35480;BAH11840;BAH12034;BAH13897;BAH14346;EAW99984;EAW99985;EAW99986;EAW99987;NP_001243650;NP_006421;P50991 Hs.421509 1672703;1731873;1774170;2126213;2128997;2172542;5093932;5095825;7186785 A009Z10;D2S412E;G33008;RH11918;RH66235;RH68840;SHGC-195;WI-16954 CCT-DELTA;Cctd;MGC126164;MGC126165;SRB OTTHUMP00000201357;T-complex protein 1 subunit delta;TCP-1-delta;chaperonin containing t-complex polypeptide 1, delta subunit;stimulator of TAR RNA-binding APPROVED protein-coding ENSG00000115484 HGNC:1617 05506 605142 VALIDATED 3539547 CCT4P2 chaperonin containing TCP1, subunit 4 (delta) pseudogene 2 X X X q11.2 64837617 64839726 + 64490792 64492901 + 65270912 65273021 + 20193073 100131638 ABBA01066996;ABBA01066997;AL445523;AMYH02039609;NG_022664 CCT4-1P pseudo HGNC:35141 INFERRED 2974874 CCT4P1 chaperonin containing TCP1, subunit 4 (delta) pseudogene 1 7 7 7 q34 135419761 135421615 - 140697740 140699594 - 140997940 140999794 - 12853948;20193073 650172 ABBA01034091;AC006006;AMYH02016912;CH236950;NG_016595 CCT4-2P pseudo HGNC:35151 INFERRED 1342982 CCT3 chaperonin containing TCP1, subunit 3 (gamma) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010] 1 1 1 q23 129351733 129381131 - 156278752 156308206 - 156308961 156338415 - 1580863;6480464;8554872 10635329;11865071;12477932;12586295;12620389;14499622;14532270;15383276;15489334;16009940;16085932;16169070;16189514;16196087;16497536;16710414;17110338;17314511;17550899;17623298;17643375;18029348;18654987;18715871;18775504;18781797;18782753;19056867;19135240;19156129;19165527;19167051;19193609;19380743;19596686;19738201;20139978;20193073;20516061;20562859;20634891;20639865;20936779;21081666;21139048;21145461;21319273;21525035;21572988;21890473;21906983;21942715;21963094;21987572;22053931;22079093;22145905;22268729;22304920;22399500;22505724;22586326;22589738;22623428;22810585;22863883;22939629;23000965;23022380;23349634;23383273;23398456;23438482;23443559;23455922;23463506;23658844;23703321;23752268;23868055;24244333;24250222;24457600;24583282;24654937;24816145;25027693;7953530;8001976;8110840;8573069 7203 B3KX11;B4DUR8;E9PM09;E9PQ35;E9PRC8;E9PRM9;E9PRN0;P49368;Q59H77;Q5SZW8;Q5SZX6;Q5SZX9 AB208882;ABBA01016662;ABBA01016663;ABBA01016664;AK126400;AK293477;AK300765;AK308023;AK315923;AK316387;AL518070;AL589685;AL833197;AMYH02001971;AY524046;BC006501;BC008019;BG476176;BG746513;CH471121;KF455038;NM_001008800;NM_005998;NR_036564;NR_036565;U17104;X74801 AAC50068;AAH06501;AAH08019;AAS94255;ABM83940;ABM87258;BAD92119;BAG54323;BAG56968;BAG62430;BAH14294;BAH14758;CAA52808;CAI46192;EAW52967;NP_001008800;NP_005989;P49368 Hs.491494 1657614;1781476;2107917;2167144 CCT3_8687;D1S3443;RH70900;SHGC-132091 CCT-gamma;CCTG;PIG48;TCP-1-gamma;TRIC5;hTRiC5 OTTHUMP00000025735;OTTHUMP00000025736;OTTHUMP00000231494;OTTHUMP00000231497;T-complex protein 1 subunit gamma;T-complex protein 1, gamma subunit;TCP1 (t-complex-1) ring complex, polypeptide 5 APPROVED protein-coding ENSG00000163468 HGNC:1616 08969 600114 REVIEWED 2837779 CCT5P1 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 1 5 5 5 q22.3 110797065 110798685 + 114847774 114849394 + 115512077 115513697 + 20193073 402226 ABBA01069032;AC008628;AMYH02012004;NG_016575 CCT5-3P pseudo HGNC:35135 INFERRED 1354396 CCT5 chaperonin containing TCP1, subunit 5 (epsilon) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. In addition, three pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2010] 5 5 5 p15.2 10290174 10306401 + 10250041 10266501 + 10250170 10266389 + 1580863;6480464;7240710;8554872;8699517 10393949;10747865;11162507;11358150;11532003;11580269;11580270;12477932;12502735;12530067;14532270;14702039;15231747;15489334;15889144;16085932;16159877;16169070;16189514;16196087;16236267;16399879;16497536;16548883;16821082;17314511;17339318;17643375;18029348;18421076;18715871;18775504;18781797;18782753;19056867;19135240;19156129;19167051;19376773;19380743;19651702;19738201;20000738;20193073;20468064;20473970;20516061;20639865;21081666;21139048;21145461;21319273;21525035;21693764;21726808;21890473;21906983;21942715;21963094;21987572;22053931;22232265;22268729;22304920;22505724;22586326;22623428;22863883;22939629;22956598;23000965;23349634;23383273;23398456;23438482;23443559;23455922;23612981;23658844;23703321;23741361;23752268;23862649;24030972;24250222;24457600;24583282;24816145;25027693;7615668;7788527;7953530;9250675 22948 B7ZAR1;D6RIZ7;E7ENZ3;E9PCA1;H0Y914;H0Y958;P48643;V9HW37 ABBA01020593;AC012640;AF275798;AJ012489;AK124354;AK289353;AK290393;AK293341;AK293437;AK301760;AK301985;AK302368;AK302383;AK303086;AK303147;AK316376;AMYH02010845;BC002971;BC006543;BC009454;BC035499;BC040027;BU858349;CH471102;D43950;FJ224303;NG_012160;NM_012073 AAG23814;AAH02971;AAH06543;AAH09454;AAH35499;ABM83669;ABM86942;ACI45995;BAA07894;BAF82042;BAF83082;BAG56857;BAG56941;BAG63220;BAG63393;BAG63690;BAG63700;BAG64197;BAG64251;BAH14747;EAX08072;NP_036205;P48643 Hs.1600 1649742;1681448;2133822;2175641;2176903 A002D32;D5S2412;G19980;RH25325;RH48173 CCT-epsilon;CCTE;HEL-S-69;KIAA0098;TCP-1-epsilon OTTHUMP00000161671;OTTHUMP00000220727;OTTHUMP00000220728;OTTHUMP00000220953;OTTHUMP00000221653;T-complex protein 1 subunit epsilon;T-complex protein 1, epsilon subunit;epididymis secretory protein Li 69 APPROVED protein-coding ENSG00000150753 HGNC:1618 06468 256840;610150 REVIEWED 1601895 CCT6P1 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1 INTERACTS WITH zoledronic acid 7 7 7 q11.21 58331511 58342159 + 65216092 65228662 + 65751105 65763675 + 6480464 12477932;14702039;19156129;20193073;9847074 643253 ABBA01008491;ABBA01049022;ABBA01049023;ABBA01049024;ABBA01049025;AC073107;AK092180;AMYH02015893;BC052238;BC073761;BC119782;BC122874;NR_003110 Hs.488399 1725771;2118594;2138914;5022651;5113086 D11S2921;G23512;G62070;GDB:1317576;RH11537 CCT6-5P;CCT6AP1;DKFZp779B0634 pseudo HGNC:33094 PROVISIONAL 3161437 CCT5P2 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 2 13 13 13 q31.1 60383402 60385019 + 79483065 79484682 + 78908930 78910547 + 20193073 390415 ABBA01021684;AL359647;AMYH02028336;NG_016574 CCT5-P1;KIAA0098 pseudo HGNC:35139 INFERRED 4144711 CCT6P5 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 5 11 11 11 106662252 106663112 - 109507968 109508828 - 109637242 109638102 - 11237011;15496913;16554811;20193073 100463286 ABBA01039846;AMYH02025563;AP003102;NG_023057 CCT6-2P pseudo HGNC:38608 INFERRED 2837780 CCT6P2 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 2 5 5 5 p15.2 14663527 14665122 - 14639532 14641127 - 14639423 14641018 - 20193073 391739 ABBA01020638;AC010627;AMYH02010899;NG_016581 CCT6-1P pseudo HGNC:35150 INFERRED 3322380 CCT7P1 chaperonin containing TCP1, subunit 7 (eta) pseudogene 1 6 6 6 q25.1 150935693 150937521 + 150201030 150202858 + 149879894 149881722 + 20193073 442267 ABBA01025669;AL355312;AMYH02014699;NG_013108 5095177 CCT7 CCT7-2P;FLJ13465 pseudo HGNC:35149 INFERRED 2974960 CCT6P3 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 7 7 7 q11.21 58217665 58250366 + 64498732 64535091 + 65038354 65074713 + 12477932;20193073;9847074 643180 ABBA01027992;ABBA01027993;AC073210;AMYH02015863;AMYH02015864;BC071617;BX649060;NR_033416 Hs.510847 1676704;1725771;2118594;2138914;5113086 G23512;G62070;GDB:1317576;RH11537;RH92824 CCT6-3P;DKFZp779B0634 pseudo ENSG00000234585 HGNC:35137 VALIDATED 1345746 CCT6B chaperonin containing TCP1, subunit 6B (zeta 2) This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 17 17 17 q12 30165074 30198725 - 33254878 33307968 - 34927859 34981073 - 1580863;6480464 12477932;15342556;15489334;16344560;16415341;18782753;19156129;19380743;20193073;21572988;21906983;21963094;22505724;22939629;22990118;23000965;23349634;24816145;8125298;8812458;9013858 10693 J3KRI6;Q92526 ABBA01011220;ABBA01011221;AC022903;AK225728;AK225729;AK301773;AK302344;AMYH02033340;BC026125;BC027591;BI825786;BI826129;BP368876;CH471147;CR933688;D78333;DB024533;DB032371;NM_001193529;NM_001193530;NM_006584;XM_006721641;XM_006721642 AAH26125;AAH27591;ADZ15468;BAA11347;BAG63232;BAG63672;CAI45976;EAW80201;NP_001180458;NP_001180459;NP_006575;Q92526;XP_006721704;XP_006721705 Hs.73072 1734410;1797150;1857857;2124214;5107533 D17S1382E;D17S1561;MGC20398;RH71331;SHGC-56716 CCT-zeta-2;CCTZ-2;Cctz2;TCP-1-zeta-2;TSA303 CCT-zeta-like;T-complex protein 1 subunit zeta-2;T-complex protein 1, zeta-2 subunit;TCP-1-zeta-like;testis-specific Tcp20;testis-specific protein TSA303 APPROVED protein-coding ENSG00000132141 HGNC:1621 09873 610730 REVIEWED 1312394 CCT6A chaperonin containing TCP1, subunit 6A (zeta 1) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, several pseudogenes of this gene have been located. [provided by RefSeq, Jun 2010] 7 7 7 p11.2 67172779 67185081 + 56119378 56131682 + 56051685 56063989 + 1580863;6480464 10810232;11532003;12477932;12665801;12853948;1352881;14532270;15489334;1602151;16085932;16196087;16211299;16236267;16497536;17314511;17500595;17550899;17620599;17623298;17643375;18715871;18729074;18775504;18782753;19056867;19135240;19156129;19380743;19738201;20193073;20473970;21081666;21139048;21145461;21319273;21525035;21572988;21853274;21890473;21906983;21942715;21963094;21987572;22053931;22079093;22268729;22505724;22623428;22810585;22863883;22939629;23000965;23022380;23166591;23184937;23349634;23383273;23398456;23438482;23443559;23455922;23752268;23862649;24250222;24550385;24583282;24816145;25027693;7953530;8034610 908 B4DPJ8;P40227 AB063318;AB209728;ABBA01061849;AC092101;AC092579;AF385084;AK297751;AK298371;AK313819;AK316230;AM295155;AMYH02015749;AW411253;BC106941;BC106942;BI464886;BU540578;CH471140;L27706;M94083;NM_001009186;NM_001762 AAA58676;AAA61061;AAI06943;AAK61354;AAS07451;BAB61032;BAD92965;BAG36555;BAG60101;BAG60610;BAH14601;CAL26601;EAX07972;EAX07973;EAX07974;NP_001009186;NP_001753;P40227 Hs.82916 1725771;2147282;5106920;5113086 G62070;RH11537;SHGC-32082;WI-19011 CCT-zeta;CCT-zeta-1;CCT6;Cctz;HTR3;MGC126214;MGC126215;MoDP-2;TCP-1-zeta;TCP20;TCPZ;TTCP20 OTTHUMP00000159736;OTTHUMP00000209314;T-complex protein 1 subunit zeta;T-complex protein 1, zeta subunit;acute morphine dependence related protein 2;acute morphine dependence-related protein 2;amino acid transport defect-complementing;chaperonin containing T-complex subunit 6;histidine transport regulator 3 APPROVED protein-coding ENSG00000146731 HGNC:1620 00089 104613 REVIEWED 1605278 CCT8L2 chaperonin containing TCP1, subunit 8 (theta)-like 2 ENCODES a protein that exhibits anion channel activity (inferred); ATP binding (inferred); calcium-activated potassium channel activity (inferred); INVOLVED IN anion transport (inferred); cellular protein metabolic process (inferred); potassium ion transmembrane transport (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH atrazine; cadmium dichloride (ortholog) 22 22 22 q11.1 693800 695852 - 17071648 17073700 - 16590758 16592810 - 6480464 10585773;12477932;15461802;20193073;23936387 150160 Q96SF2 ABBA01001468;AMYH02037979;AP000365;AP000547;AP003553;BC022006;BC033797;BC100811;BC100812;BC100813;BC139842;CH471193;CR456508;HC006880;NM_014406 AAH33797;AAI00812;AAI00813;AAI00814;AAI39843;AAI39927;ABM83008;ABM86201;ACT64544;ACT64545;BAA84680;BAB43952;CAG30394;CBH19245;EAW57714;NP_055221;Q96SF2 Hs.128342 CESK1;MGC118839;MGC118840 OTTHUMP00000180627;T-complex protein 1;putative T-complex protein 1 subunit theta-like 2 protein-coding ENSG00000198445 HGNC:15553 16708 VALIDATED 1345429 CCV cataract, congenital, Volkmann type ASSOCIATED WITH Cataract congenital Volkmann type (inferred) 7240710 7607651 7792 7183686 D1S243 HGNC:1624 115665 3539802 CCT8P1 chaperonin containing TCP1, subunit 8 (theta) pseudogene 1 1 1 1 q21.1 122308284 122310144 + 146674705 146676565 - 147203124 147204984 - 11237011;15496913;16710414;20193073 644131 ABBA01004398;AC242426;AL356378;NG_016732 1692430;2124809;2169621 AL009757;AL033864;D5S2639 CCT8-1P pseudo HGNC:35144 INFERRED 3028800 CCT6P4 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 4 3 3 3 q28 188862687 188865356 + 190432497 190435166 + 190714708 190717377 + 20193073 100130481 ABBA01058324;AC079863;AMYH02008409;CH471052;NG_016479 EAW78098 1784668 SHGC-144039 CCT6-4P pseudo HGNC:35148 INFERRED 2301496 CCT7P2 chaperonin containing TCP1, subunit 7 (eta) pseudogene 2 5 5 5 q14.3 88084667 88086213 - 92225080 92226626 - 92889373 92890919 - 11181995;20193073;21273288 100288772 ABBA01069288;AC008517;AMYH02011796;CH471084;NG_008698 EAW96001 CCT7-1P pseudo HGNC:35134 INFERRED 1315027 CCT7 chaperonin containing TCP1, subunit 7 (eta) This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009] 2 2 2 p13.2 73312190 73330978 + 73461364 73480150 + 73234236 73253022 + 1580863;6480464;8554872 11532003;11591653;12477932;14532270;15347653;15489334;15815621;16055720;16085932;16169070;16196087;16236267;16335966;16497536;17339318;17550899;18029348;18715871;18775504;18781797;18782753;18816836;19156129;19193609;19380743;19615732;19738201;20193073;20473970;20516061;20562859;20877624;21081666;21139048;21145461;21319273;21525035;21572988;21832049;21853274;21890473;21900206;21906983;21942715;21963094;21987572;21988832;22053931;22145905;22268729;22505724;22623428;22863883;22939629;23000965;23184937;23277564;23292503;23349634;23383273;23398456;23438482;23443559;23455922;23658844;23703321;23752268;23824909;23862649;24337577;24550385;24583282;24654937;24816145;25015289;25027693;8125298;8982604;9250675;9819444 10574 B7Z1C9;F8WAM2;F8WBP8;Q99832 ABBA01075579;AC010913;AF026292;AI571508;AK098549;AK098825;AK222478;AK291961;AK293175;AK293597;AK297846;AK298153;AK302078;AMYH02004072;BC019296;BC088351;BM558355;BM918058;CH471053;CR456719;CR536511;CX781741;DC362157;DC395264;KF456675;NM_001009570;NM_001166284;NM_001166285;NM_006429;NR_029402;NR_029403;U83843 AAB41437;AAC96011;AAH19296;AAH88351;AAX88902;ABM84390;ABM87333;BAD96198;BAF84650;BAH11465;BAH11543;BAH12675;BAH12733;BAH13620;CAG33000;CAG38749;EAW99738;EAW99739;EAW99740;NP_001009570;NP_001159756;NP_001159757;NP_006420;Q99832 Hs.368149 1682696;5095177 CCT7;RH41801 CCT-ETA;Ccth;MGC110985;Nip7-1;TCP-1-eta;TCP1ETA CCTETA;HIV-1 Nef interacting protein;HIV-1 Nef-interacting protein;OTTHUMP00000202321;OTTHUMP00000202322;OTTHUMP00000213063;T-complex protein 1 subunit eta;chaperonin containing t-complex polypeptide 1, eta subunit APPROVED protein-coding ENSG00000135624 HGNC:1622 06896 605140 REVIEWED 1351383 CCZ1B CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) FOUND IN lysosome (inferred); membrane (inferred); INTERACTS WITH hydralazine; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 p22.1 5897907 5900900 + 6838566 6865926 - 6798935 6826295 - 737633;6480464 12477932 10810093;12853948;14702039;15342556;15489334;21832049;21890473;21906983;21963094;21987572;22505724;23000965;23022380;23333304 221960 F8WD66;P86790;P86791 ABBA01016110;ABBA01056508;ABBA01056509;ABBA01056510;AC004983;AC079882;AK000993;AK292326;AK296026;AL050215;AMYH02015186;BC010130;BC108302;BP341272;CA413377;NM_198097 AAH10130;AAQ93370;AAQ96868;ADZ15393;BAF85015;BAG58794;CAB43318;NP_932765;P86790 Hs.567779 1684942;1712086;1712114;2147970;2147972 A005Y46;G20608;G54092;G54106;RH80485 C7orf28B;DKFZp586I1023;FLJ60592;H_NH0577018.2;MGC19819 H_DJ1163J12.2;OTTHUMP00000155187;hypothetical protein LOC221960;vacuolar fusion protein CCZ1 homolog B;vacuolar fusion protein CCZ1 homolog-like APPROVED protein-coding HGNC:21717 12916 VALIDATED 1313488 CCT8 chaperonin containing TCP1, subunit 8 (theta) This gene encodes the theta subunit of the CCT chaperonin, which is abundant in the eukaryotic cytosol and may be involved in the transport and assembly of newly synthesized proteins. Alternative splicing results in multiple transcript variants of this gene. A pseudogene related to this gene is located on chromosome 1. [provided by RefSeq, Sep 2013] 21 21 21 q22.11 15612113 15629468 - 30428647 30446010 - 29056322 29073797 - 1580863;6480464 10508479;10748209;10830953;11532003;12477932;14532270;15342556;15489334;15592455;16021519;16085932;16196087;16344560;16497536;16780588;16916647;17314511;17370265;17500595;17550899;17643375;18029348;18775504;18782753;19056867;19135240;19156129;19380743;19738201;20085233;20193073;20305087;20473970;20585571;20639865;21081666;21139048;21145461;21319273;21525035;21832049;21890473;21906983;21942715;21963094;22053931;22079093;22145905;22268729;22337587;22505724;22623428;22810585;22863883;22939629;23000965;23022380;23077236;23184937;23349634;23383273;23398456;23438482;23443559;23455922;23658844;23752268;23862649;24250222;24337577;24583282;24654937;24816145;25015289;25027693;7584026;7584028;7890169;8125298;8590283 10694 H7C2U0;H7C4C8;P50990;Q7Z759 ABBA01057248;ABBA01057249;ABBA01057250;ABBA01057251;AF129075;AK222490;AK293705;AK298801;AK308063;AL163249;AMYH02037690;BC005220;BC012584;BC035472;BC072001;BC095470;BP248736;BU932439;CH471079;D13627;D42052;DB301557;DC298601;NM_001282907;NM_001282908;NM_001282909;NM_006585;Z37163 AAH12584;AAH72001;AAH95470;BAA02792;BAA07652;BAD96210;BAG57138;BAG60936;CAA85520;CAB90433;EAX09924;EAX09925;EAX09926;NP_001269836;NP_001269837;NP_001269838;NP_006576;P50990 Hs.125113 1692430;1730851;2124809;5107853;5126525 AL033864;D21S388;D5S2639;RH25243;SHGC-51868 C21orf112;Cctq;D21S246;KIAA0002;PRED71 CCT-theta;OTTHUMP00000096462;OTTHUMP00000096463;OTTHUMP00000096464;T-complex protein 1 subunit theta;T-complex protein 1, theta subunit;TCP-1-theta;renal carcinoma antigen NY-REN-15 protein-coding ENSG00000156261 HGNC:1623 10816 VALIDATED 1605860 CCT8L1P chaperonin containing TCP1, subunit 8 (theta)-like 1, pseudogene ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN cellular protein metabolic process (inferred); FOUND IN cytoplasm (inferred) 7 7 7 q36.1 146699468 146701520 + 152142302 152144354 + 152445217 152447269 + 12853948;20193073 155100 A6NM43 ABBA01035132;AC005631;AMYH02017088;CH471173;NG_012242 A6NM43;EAW53969 CCT8L1 APPROVED pseudo HGNC:32153 18738 INFERRED 1347263 CD14 CD14 molecule The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Mar 2010] 5 5 5 q31.1 136088058 136090031 - 140011313 140013286 - 140631728 140633701 - 1580252;1580255;1580863;1580257;2314152;2314154;2314155;2314173;2314179;2314175;2314156;724637;4144796;4144197;4144208;4144143;4144784;4144205;4144789;4144210;4144780;4144788;4144795;4144798;4144228;4144810;4144156;4144782;4144813;4144814;4144815;4144794;4144809;6480464;7183752;7184431;6907045;7183676;2312712;4144091;7185660;7193054;7204129;7204499;7204130;7204444;7204443;1342461;7191232;7204441;7247704 10195920;10831941;10966493;11829837;12046090;12566518;14587643;14614560;15117676;15145554;15310678;15640605;15731076;15741437;15940135;16210672;16387800;16628253;16873708;16950285;17185649;17196641;17436151;17471431;17565820;17825924;18008256;18070011;18157711;18235097;18312481;18728522;19096003;19162137;19201771;19222419;19466271;19534684;19824106;20109306;20302606;20430603;20555320;21172039;22072187;22119168;22511970;22564590 10395652;10575214;11062291;11076863;11083760;11145656;11199329;11257272;11282774;11343243;11489942;11732288;11745332;11779220;11810121;11825494;11841490;11843056;11854210;11876746;11932927;11935032;11985523;12006789;12011764;12067299;12075251;12082592;12101079;12103253;12106839;12117913;12126249;12140663;12171914;12174084;12185442;12196527;12207338;12324469;12404174;12410798;12414752;12417309;12438323;12450609;12477932;12492251;12580907;12594207;12624278;12663765;12679473;12700637;12731067;12754215;12756848;12757265;12825176;12832426;12853157;12885845;12897754;12911501;12938192;12940436;12942028;12960274;14500479;14508193;14510720;14517492;14517520;14617510;14624155;14648231;14672339;14673018;14706103;14720421;14739370;14996480;15034063;15039096;15069085;15080833;15081257;15116260;15120158;15132789;15143473;15164100;15166925;15175649;15190267;15207785;15257175;15269840;15273551;15292769;15342556;15356557;15358661;15369724;15373760;15378299;15489334;15489336;15491315;15516360;15520404;15558232;15591473;15599151;15602630;15619435;15647432;15655821;15670766;15686783;15714129;15753758;15764151;15777548;15778383;15842262;15854776;15867866;15879416;15932345;15946916;15966209;15975149;16038043;16046876;16051275;16061600;16085746;16101942;16109674;16137548;16142747;16148556;16159630;16165702;16174094;16174099;16194368;16239565;16246938;16266379;16273620;16273622;16275943;16283111;16290232;16292464;16331574;16335952;16337421;16344560;16368002;16381901;16385250;16386288;16409569;16427140;16433727;16437636;16443672;16444757;16446545;16467036;16473828;16492974;16502470;16509825;16512634;16520888;16538169;16552356;16611358;16614348;16625214;16698680;16706818;16749413;16751411;16785528;16815140;16836908;16848791;16860318;16879054;16890863;16893989;16916546;16933467;16950521;17003960;17007028;17030237;17046070;17052752;17056323;17062130;17067484;17075287;17086894;17087609;17098305;17126402;17187267;17201240;17205552;17207357;17217435;17259806;17264400;17274987;17304102;17309585;17438094;17448042;17456337;17511783;17515856;17565650;17600225;17607003;17617027;17653770;17703412;17802898;17846597;17869646;17877764;17877801;17900622;17913858;17916440;17919709;17925604;17934216;17943182;17949800;17982638;18040078;18056918;18057002;18067042;18158110;18174680;18180316;18180796;18182917;18288274;18315435;18320914;18354240;18385826;18414664;18415752;18417506;18425216;18426570;18458151;18495781;18496988;18497880;18519568;18565258;18571004;18580445;18580477;18596635;18606699;18634146;18664531;18666712;18676680;18691306;18714537;18767926;18774388;18794053;18810425;18818748;18931892;18938271;18951711;18974840;18974842;18987746;18991094;19006850;19010986;19019335;19027777;19028820;19037967;19046305;19056867;19060757;19131662;19148143;19170196;19189651;19200604;19210273;19225544;19242719;19247692;19254290;19258923;19263529;19264973;19275920;19318422;19337058;19346955;19360901;19361972;19365146;19390489;19420105;19423540;19433913;19447482;19468702;19479237;19500269;19508433;19522765;19527514;19536153;19550115;19559392;19572148;19578796;19584052;19595045;19605672;19625176;19674346;19692168;19701968;19729601;19733948;19741468;19758335;19761511;19795323;19799036;19809507;19829130;19830784;19845895;19847953;19860589;19892918;19913121;19928913;19948975;19997857;20039305;20085599;20092898;20109750;20113368;20163933;20179016;20207250;20219985;20227257;20346360;20363151;20364047;20377740;20381257;20384875;20394509;20395963;20398919;20406964;20430725;20438785;20452482;20463618;20472010;20472613;20485444;20503287;20532808;20536280;20536507;20579716;20587312;20603037;20608916;20618347;20628086;20636398;20660791;20673868;20677014;20703737;20717070;20723409;20730440;20826579;20832340;20865702;20876990;20964518;21039068;21041645;21048031;21052690;21062235;21063024;21079949;21084593;21118416;21178007;21191073;21209279;21253969;21257965;21277522;21278688;21293259;21303362;21333644;21361908;21389010;21476947;21489615;21498585;21596674;21633598;21700881;21705839;21722015;21740312;21745379;21799175;21808991;21842127;21885391;21905503;21921097;21948372;21988832;22014346;22015088;22056216;22219617;22232682;22260507;22265692;22363790;22376040;22384567;22445606;22482418;22564189;22648004;22697010;22703766;22737215;22808111;22812245;22937756;22961048;22999728;23000519;23009036;23036097;23036271;23046822;23049772;23079836;23101184;23107636;23121673;23135962;23146639;23162014;23162132;23194293;23201091;23206327;23264655;23277403;23338226;23371544;23430250;23510625;23537804;23565226;23582034;23587862;23589304;23679818;23741383;23748193;23762319;23770267;23786414;23824692;23880187;23936239;23990939;2402637;24044964;24046527;24064911;24077340;24086515;24116867;24125453;24147858;24172224;24275652;24314935;24333662;24347797;24401216;24419414;2448876;24516199;2453848;2462937;2472171;24891322;2779588;3385210;7583357;8798531;9142045;9548256;9562334;9655682;9665271 929 D6RD81;D6RFL4;E7EVL5;P08571 AB446505;ABBA01026424;AC116353;AF097942;AK313277;AMYH02012340;AY044269;BC010507;BP300412;BT007331;CF593452;CH471062;DA269805;DA426297;DA681405;M86511;NG_023178;NM_000591;NM_001040021;NM_001174104;NM_001174105;W74441;X06882;X13334 AAA51930;AAC83816;AAH10507;AAL02401;AAP35995;BAG36085;BAG55282;CAA29999;CAA31711;CAL37570;CAL37702;CAL38264;CAL38573;EAW62037;NP_000582;NP_001035110;NP_001167575;NP_001167576;P08571 Hs.163867 1650171;1658953;1725717;1781086;1791370;1792094;1792342;1795134;1795236;2131419 CD14;CD14_82;G62118;PMC108311P1;PMC136845P1;PMC148872P1;PMC98826P1;RH11569;RH17946;RH67904 OTTHUMP00000159892;OTTHUMP00000223710;OTTHUMP00000223711;OTTHUMP00000224328;cd14 antigen;monocyte differentiation antigen CD14;myeloid cell-specific leucine-rich glycoprotein APPROVED protein-coding ENSG00000170458 HGNC:1628 01151 158120 REVIEWED 1315007 CCZ1 CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) FOUND IN lysosome (inferred); membrane (inferred); INTERACTS WITH cocaine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); caffeine (ortholog) 7 7 7 p22.1 6829407 6835946 - 5938341 5965605 + 5898710 5925974 + 6480464 10810093;12477932;12853948;14702039;15146197;15489334;17897319;18220336;18669648;19413330;19608861;20305638;20562859;20709422;22505724;9847074 51622 P86790;P86791 ABBA01011061;ABBA01039484;ABBA01039485;ABBA01039486;AC004983;AF151801;AK090536;AMYH02015155;BC067810;BC132749;BC132751;BI546694;CN310516;NM_015622 AAD34038;AAI32750;AAI32752;NP_056437;P86791 Hs.530000 1684942;1698298;1712086;1712114;2147970;2147972;5014029 A005Y46;D13S1639;G20608;G54092;G54106;RH102686;RH80485 C7orf28A;CCZ1A;CGI-43;H_DJ1163J12.2 CCZ1 vacuolar protein trafficking and biogenesis associated homolog;H_NH0577018.2;OTTHUMP00000208120;hypothetical protein LOC51622;vacuolar fusion protein CCZ1 homolog APPROVED protein-coding ENSG00000122674 HGNC:21691 12915 VALIDATED 1322923 CD101 CD101 molecule ENCODES a protein that exhibits hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (inferred); INVOLVED IN cell surface receptor signaling pathway (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; 17beta-estradiol (ortholog) 1 1 1 p13 115772964 115807759 + 117544372 117579173 + 117001750 117036551 + 1580863;6480464;8554872 10692025;11093127;11504738;12477932;15342556;15737213;16169070;16344560;19898481;21159825;21467233;23383108;7722299;7722300;9233604;9389317;9647226 9398 Q93033 ABBA01068497;ABBA01068498;AI791963;AK298237;AK307542;AL445231;AMYH02001795;BC130327;BC136484;BC171768;BP300139;CH471122;DA582363;DA955029;NM_001256106;NM_001256109;NM_001256111;NM_004258;Z33642 AAI30328;AAI36485;AAI71768;BAG60504;CAA83923;EAW56664;EAW56665;NP_001243035;NP_001243038;NP_001243040;NP_004249;Q93033 Hs.654598 1336648;2167320 D1S252;SGC35472 EWI-101;IGSF2;V7 OTTHUMP00000013817;cell surface glycoprotein V7;glu-Trp-Ile EWI motif-containing protein 101;immunoglobulin superfamily member 2;immunoglobulin superfamily, member 2;leukocyte surface protein APPROVED protein-coding ENSG00000134256 HGNC:5949 05154 604516 VALIDATED 1321258 CD163 CD163 molecule The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 12 p13.3 9198918 9231725 - 7623412 7656414 - 7470816 7503818 - 6480464;8554872 10066432;10403791;10577520;10648003;11124526;11196644;11298324;11334962;11688984;11854028;11865982;12115225;12208511;12296867;12377940;12477932;14656926;14962251;15075364;15146432;15448162;15478309;15479433;15489334;15613100;15624762;15846794;16189277;16335952;16344560;16434690;16507898;16517975;16522161;17095719;17102136;17117055;17255364;17460152;17525367;17548657;17629586;17947394;18078989;18276779;18316565;18320015;18410276;18542032;18563533;18604302;18849484;18976975;19040468;19131549;19473660;19528371;19582880;19885719;19910578;19961729;20139978;20237496;20299688;20379614;20472850;20807704;21120485;21692033;21737148;21766094;21799753;21813065;21839737;21933102;21962403;22044760;22060747;22098563;22211334;22279103;22289504;22290142;22309204;22354894;22362417;22407921;22450890;22453843;22504842;22540373;22682876;22807450;22884782;22911680;22937125;22948049;22949100;23011084;23013330;23149357;23150181;23165891;23224400;23289476;23326413;23463035;23539121;23555776;23557330;23589619;23595052;23640944;23660665;23671278;23687420;23692821;23792028;23922818;24138337;24423341;24489836;24498098;24515766;24548423;24574232;24577568;24578130;24583499;24594990;24597777;24603711;24619759;24623375;24651679;24741586;24748497;24765881;24780929;24810263;24813472;24842486;24846388;24859792;24916404;24983948;8125298;8370408 9332 C9JHR8;F5GZZ9;H0YFM0;H0YGZ7;Q86VB7 AA962842;ABBA01012200;AC131206;AI128043;AI129762;AK226017;AMYH02025965;AMYH02025966;BC051281;CH471116;DA619387;DB291765;DQ058615;NG_029826;NM_004244;NM_203416;XM_005253528;XM_005253529;XR_429039;Y18388;Z22968;Z22969;Z22970;Z22971 AAH51281;AAY99762;CAA80541;CAA80542;CAA80543;CAA80544;CAB45233;EAW88662;EAW88663;EAW88664;EAW88665;EAW88666;NP_004235;NP_981961;Q86VB7;XP_005253585;XP_005253586 Hs.504641 2143590;2154438;5014422;5122856 D12S1890;G15942;STS-H93331;STS-T92350 M130;MM130 OTTHUMP00000238617;OTTHUMP00000238618;OTTHUMP00000238619;OTTHUMP00000238620;hemoglobin scavenger receptor;macrophage-associated antigen;scavenger receptor cysteine-rich type 1 protein M130 APPROVED protein-coding ENSG00000177575 HGNC:1631 05708 605545 REVIEWED 1603525 CD163L1 CD163 molecule-like 1 This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] 12 12 12 p13.3 9082999 9171979 - 7507556 7596778 - 7354960 7444183 - 6480464;8554872 11086079;11124526;12477932;12975309;15340161;16344560;20032174;20237496;20379614;21159337;23383108 283316 F5H7R7;H0YFE6;H0YFR4;H0YGF0;Q9NR16 ABBA01012199;AC131205;AC131206;AC131207;AF264014;AK058038;AK303372;AMYH02025965;BC104962;BC104964;BQ024006;CH471116;DA851620;DB145231;DC348327;GQ397482;NM_001297650;NM_174941;XM_005253348;XM_006719061;XR_429032 AAF91396;AAI04963;AAI04965;ADB45259;BAG64429;EAW88667;EAW88668;NP_001284579;NP_777601;Q9NR16;XP_005253405;XP_006719124 Hs.631727 CD163B;M160 CD163 antigen B;CD163 antigen-like 1;OTTHUMP00000238590;OTTHUMP00000238591;scavenger receptor cysteine-rich type 1 protein M160 APPROVED protein-coding ENSG00000177675 HGNC:30375 07301 606079 REVIEWED 2299188 CD177P1 CD177 molecule pseudogene 1 INTERACTS WITH arsane (ortholog); arsenic atom (ortholog); dextran sulfate (ortholog) 19 19 19 q13.31 40676720 40684110 - 43875887 43883277 - 43371735 43379125 - 6480464 11846455 653579 ABBA01040856;AC005392;AMYH02036160;NG_005616 CD177P APPROVED pseudo HGNC:34508 INFERRED 1342532 CD160 CD160 molecule CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. [provided by RefSeq, Jul 2008] 1 1 1 q21.1 119898820 119918586 - 145695798 145715639 - 145719446 145739288 + 1580863;6480464 11978774;12477932;15073036;15489334;15494480;17218942;17237375;18193050;19109136;19626042;20164468;20237496;21191401;21276121;21482699;21715317;21959263;21982860;22172098;22916009;8090781;9743336;9973372 11126 B8PRF2;O95971;Q5T2V6;Q6FH89 AA463248;ABBA01005738;AC242845;AF060981;AI241015;AK128370;AL390725;BC014465;CD638675;CH471244;CR541867;CR541888;EU016100;EU016101;NM_007053;NR_103845;XM_005272929;XM_005272930 AAC72302;AAH14465;ABM83981;ABM87303;ABV89736;ABV89737;CAG46665;CAG46686;CAI13713;CAI13714;EAW71440;NP_008984;O95971;XP_005272986;XP_005272987 Hs.488237;Hs.740780 1647513;1660680;1692970;1797362 AL034202;CD160_2137;RH47556;RH78835 BY55;FLJ46513;NK1;NK28 CD160 antigen;CD160 transmembrane isoform;CD160-delta Ig;OTTHUMP00000015585;natural killer cell receptor BY55;natural killer cell receptor, immunoglobulin superfamily member APPROVED protein-coding ENSG00000117281 HGNC:17013 06833 604463 VALIDATED 736961 CD164 CD164 molecule, sialomucin Sialomucins are a heterogeneous group of secreted or membrane-associated mucins that appear to play 2 key but opposing roles in vivo: first as cytoprotective or antiadhesive agents, and second as adhesion receptors. CD164 is a type I integral transmembrane sialomucin that functions as an adhesion receptor (Watt et al., 1998 [PubMed 9680353]; Forde et al., 2007 [PubMed 17077324]).[supplied by OMIM, Aug 2008] 6 6 6 q21 110434305 110450350 - 109687717 109703762 - 109366514 109382559 - 1580863;6480464 10491205;10878358;11027692;11862985;12477932;14574404;1478919;15916720;16341674;16859559;16924678;17077324;18029348;18391951;18624398;18854154;19322201;19862010;20139978;20872290;21999799;22409183;23446634;24094005;8889548;9680353;9763543 8763 D6R9B4;Q04900;Q5JSU3 ABBA01026127;AF106518;AF263279;AF299340;AF299341;AF299342;AF299343;AK298684;AK301692;AK303525;AK308664;AK310854;AK312357;AK315908;AL359711;AMYH02014279;BC011522;BC037914;BC040317;BM668503;BM817924;BM830140;CH471051;D14043;DC403839;EB388947;FJ200494;JC231890;NM_001142401;NM_001142402;NM_001142403;NM_001142404;NM_006016 AAC82473;AAF85965;AAG53903;AAG53904;AAG53905;AAG53906;AAG53907;AAG53908;AAH11522;ABM81960;ABM85139;ACO54891;BAA03130;BAG35275;BAG60847;BAG63164;BAG64553;BAH14279;CDM22287;EAW48348;EAW48349;EAW48350;EAW48351;EAW48352;EAW48353;EAW48354;EAW48355;NP_001135873;NP_001135874;NP_001135875;NP_001135876;NP_006007;Q04900 Hs.520313 1657382;1795506;1855000;2125351;2130398;2140633;2146924;2162916;5015881 CD164_1595;GDB:335751;RH17374;RH37462;RH46836;SHGC-12821;STS-N27287;WI-18149;WI-18736 MGC-24;MGC-24v;MUC-24 CD164 antigen, sialomucin;CD164 variant C;OTTHUMP00000016954;OTTHUMP00000016955;OTTHUMP00000016956;OTTHUMP00000016957;OTTHUMP00000220522;OTTHUMP00000220523;cd164 antigen;endolyn;multi-glycosylated core protein 24;sialomucin core protein 24 APPROVED protein-coding ENSG00000135535 HGNC:1632 04523 603356 VALIDATED 733300 CD151 CD151 molecule (Raph blood group) The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 899583 905516 + 832952 838840 + 832952 838835 + 1580863;6480464;7240710;8699517;8554872 10036233;10229664;10447000;10734060;10741407;10811835;11181065;11278880;11337467;11739647;11774285;11809818;11884516;11907260;12175627;12456024;12477932;12579280;12775420;12802069;14676841;15226180;15265795;15489334;15492270;15591117;15677332;16139245;16200075;16297202;16490193;16571677;16757171;16798740;17009258;17265493;17632541;17716972;18000614;18328426;18451146;18492066;18508921;18663148;18713730;18852263;18997004;19065669;19159612;19330835;19509057;19531562;1958484;19740096;20149781;20578262;20581856;20715158;20927591;20937830;20978946;21042756;21139048;21193415;21237282;21320503;21323946;21428938;21832275;21890473;21961047;21963094;21987572;22294188;22328509;22338088;22457534;22495828;22684562;22824799;22843693;22926763;22952421;22986527;23007325;23251661;23302890;23533596;23570797;23613949;24005419;24174171;24201754;24247563;24495805;24723389;7632941;8125298;8627808;9070943;9111230;9602068 977 E9PJC8;E9PJE8;E9PK37;E9PLZ6;E9PMR4;E9PP93;E9PRJ3;E9PSA1;K4DIB7;P48509;Q6ZNZ0 ABBA01015212;AF315942;AK130369;AK223186;AK293073;AL161965;AMYH02024153;AP006621;AP006623;AU099249;BC001374;BC013302;BQ957432;BT007397;BT020132;CH471158;CR456826;CR542098;D29963;DQ074789;NG_007478;NM_001039490;NM_004357;NM_139029;NM_139030;U14650 AAA87064;AAH01374;AAH13302;AAK14179;AAP36061;AAV38934;AAY68211;ABM84596;ABM86743;BAA06229;BAC85335;BAD96906;BAF85762;CAG33107;CAG46895;EAX02400;EAX02401;EAX02402;EAX02403;EAX02404;EAX02405;EAX02406;EAX02407;NP_001034579;NP_004348;NP_620598;NP_620599;P48509 Hs.654379 1778699 RH47994 GP27;MER2;PETA-3;RAPH;SFA1;TSPAN24 CD151 antigen;CD151 antigen (Raph blood group);OTTHUMP00000164434;OTTHUMP00000229166;OTTHUMP00000229168;OTTHUMP00000229169;OTTHUMP00000229170;OTTHUMP00000229174;hemidesmosomal tetraspanin CD151;membrane glycoprotein SFA-1;platelet surface glycoprotein gp27;platelet-endothelial cell tetraspan antigen 3;platelet-endothelial tetraspan antigen 3;tetraspanin-24;tspan-24 APPROVED protein-coding ENSG00000177697 HGNC:1630 03763 179620;602243;609057 REVIEWED 1603478 CD164L2 CD164 sialomucin-like 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; Aroclor 1254 (ortholog); titanium dioxide (ortholog) 1 1 1 p36.11 26102892 26107101 - 27705596 27709823 - 27379106 27383333 - 6480464 12477932;12975309;15340161;16344560;16710414;22471352 388611 Q5JXD4;Q6UWJ8 ABBA01034970;AL096774;AMYH02000599;AY358761;BC137466;BM145906;BM145910;CH471059;DB114521;DB231017;FO393419;NM_207397;XM_005245868;XR_241190 AAI37467;AAQ89121;CAI19568;CAI19569;CAI19570;EAX07755;NP_997280;Q6UWJ8;XP_005245925 Hs.664836 2110021 UNQ6122__5015 UNQ6122 CD164 sialomucin-like 2 protein;EAPG6122;OTTHUMP00000003472;OTTHUMP00000003474 protein-coding ENSG00000174950 HGNC:32043 15619 VALIDATED 1322663 CD109 CD109 molecule This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014] 6 6 6 q13 74800739 74932977 + 74405508 74538041 + 73695785 73828317 + 6480464 10972910;11861284;11861285;12799300;14574404;14702039;14980714;15342556;15569238;15826242;16263699;16335952;16344560;16754747;16959974;17493171;17611685;17922683;18519826;19016750;19570064;19581412;19898481;19948007;20035377;20101215;20379614;20667040;20946523;21295082;21539622;21898545;22694813;23251661;2346781;23509816;24068962;24396288;8889548 135228 Q5XUN1;Q6YHK3 ABBA01040340;AF410459;AF410460;AK095888;AK123960;AK130104;AK313636;AL110152;AL590428;AL591480;AL834478;AMYH02013917;AMYH02013918;AMYH02013919;AY149920;AY374441;AY374442;AY736553;AY736554;AY736555;AY736556;AY736557;AY736558;AY788891;BM722643;BP279681;BP351448;BX107999;BX641095;BX646244;CB529476;CB853216;CH471051;DA720168;DB280225;EF553520;NG_033971;NM_001159587;NM_001159588;NM_133493;XM_005248659 AAI48365;AAI52997;AAL84159;AAL84160;AAN78483;AAU94640;AAU94641;AAU94642;AAU94643;AAU94644;AAU94645;AAX14639;ABQ66266;BAC04642;BAG36395;BAG53987;CAD39137;CAE46045;EAW48752;EAW48753;EAW48754;EAW48755;NP_001153059;NP_001153060;NP_598000;Q6YHK3;XP_005248716 Hs.399891 1338892;1656180;1687471;1726285;1751435;2109119;5022578;5037552 CD109_2883;D1S1423;D6S406;D8S2279;G62443;RH92600;SHGC-105259;SHGC-3527 CPAMD7;DKFZp762L1111;FLJ38569;FLJ41966;RP11-525G3.1;p180;r150 150 kDa TGF-beta-1-binding protein;C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7;CD109 antigen;Gov platelet alloantigens;OTTHUMP00000016748;activated T-cell marker CD109;platelet-specific Gov antigen APPROVED protein-coding ENSG00000156535 HGNC:21685 10590 608859 REVIEWED 1603627 CD177 CD177 molecule This gene encodes a glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 and function in neutrophil transmigration. Mutations in this gene are associated with myeloproliferative diseases. Over-expression of this gene has been found in patients with polycythemia rubra vera. Autoantibodies against the protein may result in pulmonary transfusion reactions, and it may be involved in Wegener's granulomatosis. A related pseudogene, which is adjacent to this gene on chromosome 19, has been identified. [provided by RefSeq, Apr 2014] 19 19 19 q13.2 40658322 40667941 + 43857825 43867480 + 43353673 43363328 + 6480464 10753836;11465086;11846455;12010833;12239154;12377969;12477932;12591276;12617169;12623849;12756017;12901344;12975309;1382544;14692971;14701686;15043575;15340161;15489334;15572213;15749675;15862967;15951300;15985544;16189514;16398742;16502591;16682284;16867862;17244676;17580308;17898576;17976520;17980909;18156711;18854317;19185066;19695014;19999391;20194726;20491791;21193407;22266279;22300941;22690867;22776008;23118879;23206890;23445729;23461681;23515576;23521917;23706337;23822853;23899160;23907354;24124144;24597828;5552408;7974707;8125298;8301201;8488543;8614969;9675788 57126 Q8N6Q3 AB237911;ABBA01040855;AC005392;AF146747;AJ290452;AJ305326;AJ310433;AK225226;AK290965;AM884905;AMYH02036160;AY358932;BC029167;BT020111;BU688145;CD514938;DA728784;DB323632;NM_020406 AAG00895;AAH29167;AAQ89291;AAV38914;ABM82971;ABM86165;BAE93254;BAF83654;CAC44459;CAC83724;CAC83758;CAP05216;NP_065139;Q8N6Q3 Hs.232165 HNA-2a;HNA2A;NB1;NB1 GP;PRV-1;PRV1 CD177 antigen;NB1 glycoprotein;cell surface receptor;human neutrophil alloantigen 2a;polycythemia rubra vera 1;polycythemia rubra vera protein 1 APPROVED protein-coding ENSG00000204936 HGNC:30072 01222 162860 REVIEWED 1344711 CD1C CD1c molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131330611 131335612 + 158259563 158264564 + 158289773 158294774 + 1580863;6480464;8554872 10488738;10626896;10786796;10890914;10899914;11145857;11580851;12415264;12454749;12477932;12486100;14551186;15032598;15489334;15556687;15611286;15749918;16272286;16710414;1702817;18287231;18337560;18624350;19468063;19556741;19828201;20237496;20888334;21436634;21451111;21900247;22678905;22888216;23347583;23468110;23530121;23677998;23766460;23829893;24049150;2447586;24556395;24935257;2583117;2701945;3097645;7517559;8125298;8729450 911 H0Y6Y6;P29017 AA824381;ABBA01016629;AF142667;AK226024;AK298234;AK310710;AL121986;AMYH02002002;BC126465;BC126467;CH471121;CR457080;M14667;M18232;M22174;M22175;M22176;M22177;M22178;M28827;NM_001765;X79311;XM_005245579 AAA51938;AAA51941;AAA51942;AAD37580;AAI26466;AAI26468;ADR82954;ADR83360;BAG60503;CAG33361;EAW52842;NP_001756;P29017;XP_005245636 Hs.132448 2135937 D1S3359 BDCA1;CD1;CD1A;R7 CD1C antigen, c polypeptide;OTTHUMP00000018909;OTTHUMP00000035066;T-cell surface glycoprotein CD1c;cortical thymocyte antigen CD1C;differentiation antigen CD1-alpha-3 APPROVED protein-coding ENSG00000158481 HGNC:1636 01772 188340 REVIEWED 1319228 CD19 CD19 molecule Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 27898547 27905955 + 28943082 28950668 + 28931761 28939347 + 1580863;6480464;6907045;7240710;8699517;8554872 10201980;10706702;10933394;11080163;11120811;12002767;12215898;12387743;12477932;1370948;1373518;1375324;1383329;14607925;15144712;15187135;15489334;15549146;15593213;16289966;16344560;16352804;16430470;16430962;16672701;1702139;1714482;17213291;17327405;17493148;17882224;18051214;18174230;18333845;18495958;18671252;19001137;19421221;19454653;19561539;19574428;19828092;19882758;20022378;20164433;20208555;20237408;20237496;20301476;20359104;20377416;20402410;20445561;20726320;21081841;21102463;21330302;21339041;21348573;21599592;21635204;21693761;21786452;21961844;22563781;22820757;22826319;22990118;23193950;23277329;24244415;24286662;24375063;24442430;24501214;2459292;24664166;2472450;24790152;7513297;7528218;7568175;7589101;7636191;8647200;9120258;9178909;9648915;9694255;9804823 930 P15391 AA760729;AB052799;ABBA01045683;AC109460;AF045018;AK130657;AK301167;AK301363;AK304456;AK307295;AK313577;AMYH02031818;BC006338;BC052294;CH471267;DA959905;M21097;M62550;M84371;NG_007275;NM_001178098;NM_001770;X13312;XM_005255696;XM_006721103;XM_006721104 AAA35533;AAA69966;AAB60697;AAD02340;AAH06338;ABM83942;ABM87260;BAB60954;BAC85403;BAG62756;BAG62907;BAG65273;EAW52008;EAW52009;EAW52010;EAW52011;EAW52012;EAW52013;NP_001171569;NP_001761;P15391;XP_005255753;XP_006721166;XP_006721167 Hs.652262 1681716;1742097;1792096;1858489 G10610;GDB:191081;PMC136845P2;RH65240 B4;CVID3;MGC12802 B-lymphocyte antigen CD19;B-lymphocyte surface antigen B4;OTTHUMP00000122551;T-cell surface antigen Leu-12;cd19 antigen;differentiation antigen CD19 APPROVED protein-coding ENSG00000177455 HGNC:1633 00113 107265;613493 REVIEWED 1351549 CD1A CD1a molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to the plasma membrane and to recycling vesicles of the early endocytic system. Alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131294978 131299106 + 158218119 158228059 + 158254137 158258269 + 1580863;6480464;8554872 10488738;10626896;10963609;11580851;12415264;12477932;12833155;12925210;1301170;14739458;14991068;15032598;15099564;15262497;15556687;15723809;15749918;15756258;15864273;16208376;16272286;16344560;16454711;16598657;16670277;16820217;17077296;17082618;17197902;17428545;17652534;18178838;18184269;18251780;18287231;18337560;18337829;18555888;18624350;18838176;19234184;19257981;19317050;19321495;19426597;19605355;19952356;20026739;20139419;20237496;20592474;20890667;20954848;21194729;21496400;21696499;21900947;21988832;22003931;22007938;22103833;22331868;22670773;22939629;23334517;23468110;23677998;23766460;23858036;2447586;24556395;2478463;2583117;2701945;2784820;3053166;3093894;3097645;7517559;8729450 909 P06126;Q8N5T0 ABBA01016629;AF142665;AK312945;AL121986;AMYH02002002;BC031645;CA432941;CH471121;DB108750;M14663;M22080;M22163;M22164;M22165;M22166;M22167;M27735;M28825;NM_001763;X04450 AAA51931;AAA51932;AAA51933;AAA51934;AAD37578;AAH31645;ABM82272;ABM85452;BAG35786;CAA28049;EAW52843;EAW52844;NP_001754;P06126 Hs.1309 1715371;2142459;2153150 D1S3258;RH11438;RH120517 CD1;FCB6;HTA1;R4;T6 CD1A antigen, a polypeptide;OTTHUMP00000018907;T-cell surface antigen T6/Leu-6;T-cell surface glycoprotein CD1a;cluster of differentiation 1 A;cortical thymocyte antigen CD1A;differentiation antigen CD1-alpha-3;epidermal dendritic cell marker CD1a;hTa1 thymocyte antigen APPROVED protein-coding ENSG00000158477 HGNC:1634 01776 188370 REVIEWED 1317791 CD180 CD180 molecule CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq, Jul 2008] 5 5 5 q12 63476512 63491026 - 66477205 66492617 - 67181377 67196789 - 1580863;6480464;8554872 10880523;12477932;12539042;15340161;15342556;15489334;15852007;17448566;19423540;20133206;20233331;20237496;20331378;20379614;20406964;20430725;20438785;21048031;21890473;21959264;22219177;22484241;23103284;8975706;9686597;9763566 4064 Q99467 ABBA01048308;AC026445;AK313177;AL544501;AL570708;AMYH02011444;AW512119;BC109069;BC109070;BP344300;CH471137;D83597;NM_005582;XM_005248504 AAI09070;AAI09071;BAA12019;BAG35994;EAW51318;NP_005573;Q99467;XP_005248561 Hs.87205 1680142;1688598;2145623;2149436 RH80777;RH93570;SHGC-59933;SHGC-60152 LY64;Ly78;MGC126233;MGC126234;RP105 CD180 antigen;OTTHUMP00000161890;lymphocyte antigen 64;lymphocyte antigen 64 homolog, radioprotective 105kda (mouse);lymphocyte antigen-64, radioprotective, 105kDa;radioprotective 105 kDa protein APPROVED protein-coding ENSG00000134061 HGNC:6726 03749 602226 VALIDATED 1348815 CD1B CD1b molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131368785 131372366 - 158297740 158301321 - 158327950 158331531 - 1580863;6480464 10488738;10626896;10899914;11035089;11160317;11580851;11847129;11938350;12049721;12118248;12415264;12477932;14551186;14716313;14764708;15032598;15489334;15556687;15864273;15880118;16272286;16710414;16794581;16874306;17207965;18287231;18337560;18538591;18624350;19004781;19454700;19808251;19948070;20212510;20237496;21807869;22087000;22505724;22782895;23468110;23677998;23766460;2447586;24556395;2583117;2701945;3097645;7527500;7542404;8729450 910 H7C0I2;P29016 ABBA01016629;AF142666;AI336342;AK303329;AK303330;AK310617;AL121986;AMYH02002002;BC069481;BC074747;BC104216;BC104217;CD687240;CH471121;M14665;M22168;M22169;M22170;M22171;M22172;M22173;M28826;NM_001764 AAA51936;AAA51939;AAA51940;AAD37579;AAH69481;AAH74747;AAI04217;AAI04218;ADQ32930;BAG64394;BAG64395;EAW52841;NP_001755;P29016 Hs.1310 1791348;2125536 PMC105497P1;SHGC-12745 CD1;CD1A;MGC125990;MGC125991;R1 CD1B antigen, b polypeptide;OTTHUMP00000018908;OTTHUMP00000035065;T-cell surface glycoprotein CD1b;cortical thymocyte antigen CD1B;differentiation antigen CD1-alpha-3 APPROVED protein-coding ENSG00000158485 HGNC:1635 01775 188360 REVIEWED 10305 CD2 CD2 molecule CD2 is a surface antigen of the human T-lymphocyte lineage that is expressed on all peripheral blood T cells (summarized by Sewell et al., 1986 [PubMed 3490670]). It is one of the earliest T-cell markers, being present on more than 95% of thymocytes; it is also found on some natural killer cells but not on B lymphocytes. Monoclonal antibodies directed against CD2 inhibit the formation of rosettes with sheep erythrocytes, indicating that CD2 is the erythrocyte receptor or is closely associated with it.[supplied by OMIM, Jul 2010] 1 1 1 p13.1 115525598 115540363 + 117297057 117311851 + 116754435 116769229 + 1580863;6480464;8554872 10380930;10404223;10510361;10575274;10642604;10722370;11090067;11152963;11376005;11544295;11575926;11591762;11602341;11932928;12032326;12356317;12369898;12426371;12477932;12530983;12618476;12690097;12714509;12731040;1346273;1351089;1377404;1385321;15345303;15489334;15528362;16000308;16049493;16710414;16803907;17020880;17085486;17168569;17344209;18051367;18318997;1832084;18431797;19109405;19237575;19494291;19502238;19586919;1970422;1976695;19898481;20813844;21048031;2111780;21300823;21982860;21987572;21988832;22013130;22084431;22222639;22634534;23112830;23314748;23760244;24072102;2437578;24390342;2444890;2471997;2883656;2894031;2901953;3490670;7517794;7539755;7544493;7589092;7686927;7915183;7933095;7994575;8125298;8551220;8809126;8977276;9270771;9475352;9677430;9741631;9743208;9843987;9857189 914 P06729;Q53F96;Q5JVN7 ABBA01068494;AK127925;AK223393;AK301154;AK303367;AK310676;AK313614;AL135798;AMYH02001795;BC033583;CH471122;CS278858;HH979251;M14362;M16336;M16445;M19806;NM_001767;X07871;XM_005271319;XM_005271320 AAA35571;AAA51738;AAA51946;AAA53095;AAH33583;ABM81879;ABM85041;BAD97113;BAG36377;BAG62744;BAG64425;CAA30721;CAJ86523;CBX51829;EAW56661;NP_001758;P06729;XP_005271376;XP_005271377 Hs.523500 1740785;1795512;2134357;2151114;5022200 CD2_1700;D1S3452;D1S3476;L18426;RH69083 FLJ46032;LFA-2;SRBC;T11 CD2 antigen (p50), sheep red blood cell receptor;LFA-3 receptor;OTTHUMP00000024366;T-cell surface antigen CD2;T-cell surface antigen T11/Leu-5;cd2 antigen;erythrocyte receptor;lymphocyte-function antigen-2;rosette receptor APPROVED protein-coding ENSG00000116824 HGNC:1639 01750 186990 VALIDATED 1606724 CD200R1 CD200 receptor 1 This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 3 3 3 q13.2 111049870 111102275 - 112641532 112693950 - 112922685 112975122 - 6480464 10981966;11133863;12477932;12853143;12960329;12975309;15070969;15220441;15340161;15661892;16177086;16354172;17207965;17714785;18040859;18164423;19151626;19786546;19924532;21078907;21982860;22363701;22491458;22496920;22566634;22575528;22621248;23541619;23560298;23690219;23940819;24388216 131450 H9KV32;Q8TD46 ABBA01061657;AC074044;AF283760;AF495380;AF497548;AF497549;AF497550;AK126349;AK293071;AK304426;AMYH02007442;AY284975;AY358910;BC069661;BC069721;BC069743;BC093890;BC143393;CH471052;JA738727;JA738729;JA738731;JA738733;NM_138806;NM_138939;NM_138940;NM_170780;XM_006713491;XM_006713492 AAH69661;AAH69721;AAH69743;AAH93890;AAI43394;AAM14622;AAM16157;AAM16158;AAM16159;AAN61171;AAQ19772;AAQ89269;ADQ31913;BAF85760;BAG54311;BAG65254;CCF77016;CCF77017;CCF77018;CCF77019;EAW79657;EAW79658;EAW79659;EAW79660;EAW79661;NP_620161;NP_620385;NP_620386;NP_740750;Q8TD46;XP_006713554;XP_006713555 Hs.309158 CD200R;HCRTR2;MOX2R;OX2R CD200 cell surface glycoprotein receptor;MOX2 receptor;OTTHUMP00000214750;OTTHUMP00000214751;OTTHUMP00000214752;OTTHUMP00000214753;cell surface glycoprotein CD200 receptor 1;cell surface glycoprotein OX2 receptor 1;cell surface glycoprotein receptor CD200 APPROVED protein-coding ENSG00000163606 HGNC:24235 09609 607546 REVIEWED 1606033 CD200 CD200 molecule The protein encoded by this gene is a type-1 membrane glycoprotein, which contains two immunoglobulin domains, and thus belongs to the immunoglobulin superfamily. Studies of the related genes in mouse and rat suggest that this gene may regulate myeloid cell activity and delivers an inhibitory signal for the macrophage lineage in diverse tissues. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q13.2 110460648 110490361 + 112051194 112081659 + 112332347 112362812 + 6480464;8554872 10981966;11099416;11260322;11726033;12477932;12960329;15489334;15699757;15955564;16177086;16303743;16344560;16354172;17964286;18008004;18040859;18060403;18060862;18164423;18838168;18946351;19086995;19151626;19230971;19386363;20050020;20375636;20379614;20442224;20959655;21164290;21206086;21982860;21988832;22064604;22319630;22334534;22363701;22430636;22462561;22496920;22575528;22621248;22875025;22899296;23179394;23206327;23489112;23541619;23560298;23643150;23690219;23841472;23940819;24045551;24157657;24183830;24344047;24388216;24405602;2902568;3032785 4345 F8W7G1;F8WC99;F8WEX3;P41217;U3KQG5;U3KQQ2 ABBA01061665;AC112487;AF063591;AK074972;AK129797;AK293399;AK297194;AK312563;AL832529;AMYH02007440;AW294653;AY603771;BC022522;BC031103;BI547787;CH471052;CQ783788;DA544134;JC231868;NM_001004196;NM_005944;X05323;X05324;X05325;X05326;XM_005247481;XM_005247482;XM_005247483;XM_005247484;XM_005247485;XM_005247486;XM_005247487;XM_005247488;XM_005247489;XM_005247490;XM_005247491;XM_006713648;XR_241493 AAG43150;AAH22522;AAH31103;AAT37533;ABM83294;ABM86503;ACE87345;BAG52043;BAG56907;BAG59681;CAA28943;CAF86862;CDM22276;EAW79672;EAW79673;EAW79674;EAW79675;EAW79676;NP_001004196;NP_005935;P41217;XP_005247538;XP_005247539;XP_005247540;XP_005247541;XP_005247542;XP_005247543;XP_005247544;XP_005247545;XP_005247546;XP_005247547;XP_005247548;XP_006713711 Hs.79015 1675116;1679862;1735214;1735270;1741451;2145116;2165578;5106417 D3S2874E;D3S2924E;D3S3951;GDB:181218;RH25443;SHGC-36351;SHGC-77191;WI-20298 MOX1;MOX2;MRC;OX-2 CD200 antigen;MRC OX-2 antigen;OTTHUMP00000214500;OTTHUMP00000214501;OTTHUMP00000214502;OX-2 membrane glycoprotein;antigen identified by monoclonal antibody MRC OX-2 APPROVED protein-coding ENSG00000091972 HGNC:7203 155970 REVIEWED 1352820 CD1E CD1e molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. [provided by RefSeq, Jun 2010] 1 1 1 q23.1 131394529 131398386 + 158323486 158327343 + 158353696 158357553 + 1580863;8554872 10488738;10948205;11019917;11580851;12144626;12477932;12671734;15032598;15752135;16311334;16344560;16820217;17428545;18208508;18325888;18838176;19196239;20954848;21481186;21496400;21696499;21788486;21844346;22003931;22505724;22782895;22880058;23677998;2467814;2583117;3053166;3097645;7566098 913 A2RRL5;H0Y345;P15812 AA283335;AA354546;ABBA01016628;AF142669;AJ251334;AJ251335;AJ289111;AJ289112;AJ289113;AJ289114;AJ289115;AJ289116;AJ289117;AJ289118;AJ289119;AJ289120;AJ289121;AJ289122;AK303088;AK303108;AK303217;AK303542;AK310567;AK311643;AL121986;AMYH02002002;BC131693;CH471121;DA827206;DC406237;M14666;NM_001042583;NM_001042584;NM_001042585;NM_001042586;NM_001042587;NM_001185107;NM_001185108;NM_001185110;NM_001185112;NM_001185113;NM_001185114;NM_001185115;NM_030893;X14975;X79517;X79518;X79519 AAA51937;AAD37582;AAI31694;BAG64199;BAG64215;BAG64304;BAG64568;CAA33100;CAA56053;CAA56054;CAA56055;CAB82829;CAB93150;CAB93151;CAB93152;CAB93153;CAB93154;CAB93155;CAB93156;CAB93157;CAB93158;CAB93159;CAB93160;CAB93161;CAC07175;EAW52828;EAW52829;EAW52830;EAW52831;EAW52832;EAW52833;EAW52834;EAW52835;EAW52836;EAW52837;EAW52838;EAW52839;EAW52840;NP_001036048;NP_001036049;NP_001036050;NP_001036051;NP_001036052;NP_001172036;NP_001172037;NP_001172039;NP_001172041;NP_001172042;NP_001172043;NP_001172044;NP_112155;P15812 Hs.249217 1645043;1662504;2155049 AL009528;RH46983;RH70821 CD1A;FLJ17609;R2;R2G1;hCD1e CD1E antigen, e polypeptide;OTTHUMP00000018910;OTTHUMP00000018911;OTTHUMP00000018912;OTTHUMP00000018913;OTTHUMP00000018914;OTTHUMP00000018915;OTTHUMP00000018916;OTTHUMP00000018917;OTTHUMP00000018918;OTTHUMP00000018919;OTTHUMP00000018920;OTTHUMP00000018921;T-cell surface glycoprotein CD1e, membrane-associated;differentiation antigen CD1-alpha-3;leukocyte differentiation antigen;thymocyte antigen CD1E APPROVED protein-coding ENSG00000158488 HGNC:1638 01781 188411 REVIEWED 1602956 CD200R1L CD200 receptor 1-like FOUND IN integral component of membrane (inferred); INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl (ortholog); ammonium chloride (ortholog); choline (ortholog) 3 3 3 q13.2 110942831 110973134 - 112534556 112564797 - 112815709 112845950 - 6480464 12477932;12960329;15471863;16928187;22219177 344807 F8WDF0;Q6Q8B3 ABBA01061658;ABBA01061659;AC074044;AC092892;AMYH02007442;AY284976;AY552790;BC144504;BC144507;NM_001008784;NM_001199215;XM_005247425 AAI72292;AAQ19773;AAT00538;NP_001008784;NP_001186144;Q6Q8B3;XP_005247482 Hs.531814 1727819 G63175 CD200R2;CD200RLa CD200 cell surface glycoprotein receptor 2;CD200 cell surface glycoprotein receptor-like 2;CD200 cell surface glycoprotein receptor-like a;CD200 receptor 2;CD200 receptor-like 2;OTTHUMP00000214680;OTTHUMP00000214681;cell surface glycoprotein CD200 receptor 1-like;cell surface glycoprotein CD200 receptor 2;cell surface glycoprotein OX2 receptor 2;huCD200R2 protein-coding ENSG00000206531 HGNC:24665 16691 VALIDATED 1353762 CD1D CD1d molecule This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131220809 131227289 + 158147828 158156217 + 158179947 158186427 + 1580863;6480464;6907045;8554872 10221650;10473580;10488738;10523605;11006091;11257307;11315191;11580851;11754812;11777966;11927549;11968185;12133957;12239218;12368486;12415264;12454749;12477932;12618910;12730881;12952923;14500461;14530337;14551186;14716312;15032598;15100293;15128771;15187105;15243159;15265953;15345586;15489334;15654963;15665086;15790518;15916790;16007090;16091469;16148122;16178273;16385629;16454711;16456021;16517731;16675349;16710414;16818729;16820217;17015708;17071498;17071611;1717564;17363727;17372201;17475845;17476670;17581592;17726154;18068183;18253929;18337560;18378792;18385757;18433720;18458073;18535199;18684921;18713998;19056691;19124746;19415116;19446558;19454494;19592659;19637196;19651460;19724888;19734232;19757161;19830742;20080535;20237496;20368272;20520738;20530791;20810727;20861015;21095162;21185200;21198755;21258883;21451111;21454514;21557213;21632718;21646050;21653669;21695190;21846915;21853044;21900247;21922073;21925141;21956730;21980475;21987790;22103833;22395072;22406267;22407918;22419072;22829134;22888216;22995911;23049754;23109910;23171451;23265858;23280365;23308067;23347583;23372165;23468111;23668820;23677998;23710894;23808994;24009709;24076636;24213674;24307737;24418751;24513807;24556395;2463622;2467814;2583117;3097645;7517575;8125298;8729450;9374463;9601940 912 P15813 ABBA01016630;AF142668;AK225996;AK310541;AK310749;AL138899;AMYH02002002;BC027926;BX106524;CH471121;J04142;L38816;L38817;L38818;L38819;L38820;M14664;NM_001766;X14974;XM_005245583;XM_006711620;XM_006711621 AAA51935;AAA59672;AAA59673;AAD37581;AAH27926;CAA33099;EAW52847;EAW52848;EAW52849;NP_001757;P15813;XP_005245640;XP_006711683;XP_006711684 Hs.1799;Hs.731511 1655590;1703550;1792414;1792416;1792418;1792420;1792422;1792424;2115175;2186424 A004X45;D1S3312;PMC150819P1;PMC150819P2;PMC150819P3;PMC150819P4;PMC150819P5;PMC150819P6;RH66323;SHGC-82759 CD1A;MGC34622;R3;R3G1 CD1D antigen, d polypeptide;HMC class I antigen-like glycoprotein CD1D;OTTHUMP00000024053;T-cell surface glycoprotein CD1d;antigen-presenting glycoprotein CD1d;differentiation antigen CD1-alpha-3;thymocyte antigen CD1D APPROVED protein-coding HGNC:1637 01780 188410 REVIEWED 1347897 CD207 CD207 molecule, langerin The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010] 2 2 2 p13 70908034 70913641 - 71057343 71062953 - 70830212 70835823 - 1580863;6480464 10661407;12352970;12477932;14610287;14991068;15222130;15489334;15816828;15831940;16547227;16567809;17077296;17334373;17938236;18061677;18083206;18259063;18277880;18322168;19426597;19923446;20026605;20097424;20181944;20237496;20713888;21112338;21187444;21540232;21739428;21998450;22286874;22842622;23226363;23382691;24217250;9847074 50489 Q9UJ71 ABBA01075543;AC007395;AJ242859;AK314927;AMYH02004043;BC022278;BX104865;CH471053;NG_033914;NM_015717 AAH22278;ABM82890;ABM86080;BAG37434;CAB62403;EAW99793;NP_056532;Q9UJ71 Hs.199731 CLEC4K C-type lectin domain family 4 member K;C-type lectin domain family 4, member K;CD207 antigen, langerin;Langerhans cell specific c-type lectin;OTTHUMP00000203299 APPROVED protein-coding ENSG00000116031 HGNC:17935 07278 604862;613393 REVIEWED 1320216 CD209 CD209 molecule This gene encodes a transmembrane receptor and is often referred to as DC-SIGN because of its expression on the surface of dendritic cells and macrophages. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are rare but have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 10332; often referred to as L-SIGN). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009] 19 19 19 p13 7676294 7683878 - 7804879 7812499 - 7739993 7747611 - 5131181;5131183;5131184;5131188;5131189;5131185;5131186;5131187;6480464;6907045;7240710;8554872 17107989;18167547;20050784;20864747;21191006;21381282;21454357;21471959 10721994;10721995;10975799;11017109;11257134;11337487;11384997;11588046;11711593;11739956;11745695;11799126;11799181;11825572;11825573;11859097;11884427;12021323;12050176;12050398;12083838;12097593;12122001;12176900;12223058;12239306;12352970;12433371;12438611;12456590;12477932;12496255;12502850;12515809;12515819;12571844;12574325;12594843;12598322;12609975;12626400;12634366;12645952;12692233;12783086;12797442;12836198;12941144;12949494;12960229;12960240;14519388;14576049;14603101;14707095;14709546;14963164;14970226;15043214;15111305;15184372;1518869;15208262;15210758;15215692;15222882;15254204;15319853;15371595;15385553;15452205;15494514;15509576;15518824;15545354;15564514;15572157;15638726;15709021;15728245;15752559;15838506;15838793;15845642;15855154;15880118;1602151;16051608;16061998;16092920;16099912;16155001;16177066;16246332;16252244;16274635;16365436;16379498;16386217;16420576;16424204;16439540;16454711;16469696;16501104;16547227;16611055;16641270;16672549;16698431;16797773;16807379;16817962;16839201;16865785;16883544;16940507;17001080;17005819;17010165;17041212;17055357;17055489;17056872;17077296;17083721;17145745;17151103;17151939;17182696;17202372;17263871;17296787;17312166;17452477;17462920;17496896;17509452;17522223;17530994;17530998;17611589;17632570;17659761;17703412;17715238;17876530;17913809;17940955;17962491;18040049;18070336;18073208;18076668;18078989;18080533;18082570;18083206;18155766;18171520;18255039;18270264;18285492;18292560;18310320;18318050;18337571;18337829;18353434;18354216;18371209;18375037;18405996;18424363;18453604;18458800;18473783;18510454;18524826;18597806;18641344;18697825;18772280;18775666;18796707;18802490;18827881;18848918;19020832;19046307;19054934;19126442;19193785;19230080;19237024;19249311;19258923;19264667;19273246;19282435;19386588;19406479;19423540;19426593;19460752;19502234;19567623;19681073;19682628;19692463;19718030;19773555;19785948;19803376;19818504;19828628;19833723;19851890;19879650;19892432;19942750;19958673;20034698;20080962;20170964;20212510;20217198;20304457;20331378;20359516;20362001;20364151;20404846;20406303;20406964;20438785;20470843;20484510;20503287;20588308;20594957;20630938;20713631;20829290;20854332;20924289;20932025;20940323;21067616;21078343;21081145;21142800;21179465;21239715;21245921;21277928;21386960;21515679;21540232;21562048;21562123;21596034;21704100;21743322;21785785;21792086;21860028;21922073;21957147;21994702;22013110;22027159;22045343;22061615;22086389;22090124;22091217;22102941;22103833;22156524;22163292;22169718;22175768;22205703;22257062;22292921;22338216;22384201;22396536;22433013;22470838;22553928;22629172;22645128;22653683;22664939;22675249;22687513;22700724;22808239;22842622;22902397;22911807;22934658;23019323;23043104;23124109;23211775;23291968;23294711;23360500;23382671;23388721;23416198;23424649;23460925;23494988;23527139;23554973;23569139;23624202;23627732;23692808;23697368;23741304;23816300;23840690;23966408;24183720;24620896;24867235;24935259;25001940 30835 B2R907;B4E2A8;M0QZG5;M0R0P0;Q9NNX6;X6RB12 ABBA01010887;AC008763;AC008812;AF209479;AF290886;AK293089;AK304190;AK308595;AK313585;AMYH02035405;AY042221;AY042222;AY042223;AY042224;AY042225;AY042226;AY042227;AY042228;AY042229;AY042230;AY042231;AY042232;AY042233;BC110615;CH471139;CQ796864;CS126908;M98457;NG_012167;NM_001144893;NM_001144894;NM_001144895;NM_001144896;NM_001144897;NM_001144899;NM_021155;NR_026692;XM_005272472 AAF77072;AAG13814;AAI10616;AAK20997;AAK91846;AAK91847;AAK91848;AAK91849;AAK91850;AAK91851;AAK91852;AAK91853;AAK91854;AAK91855;AAK91856;AAK91857;AAK91858;BAF85778;BAG36354;BAG65070;CAG26528;CAJ18838;EAW68991;EAW68992;EAW68993;EAW68994;EAW68995;EAW68996;EAW68997;EAW68998;EAW68999;EAW69000;EAW69001;NP_001138365;NP_001138366;NP_001138367;NP_001138368;NP_001138369;NP_001138371;NP_066978;Q9NNX6;XP_005272529 Hs.278694 1673496;1689933;1765851;1791536;1795508;5022578;5037552 CD209_523;D1S1423;D8S2279;PMC114396P1;RH98479;SHGC-149275;STS-AA028127 CDSIGN;CLEC4L;DC-SIGN;DC-SIGN1;MGC129965 C-type lectin domain family 4 member L;C-type lectin domain family 4, member L;CD209 antigen;HIV gpl20-binding protein;dendritic cell-specific ICAM-3-grabbing non-integrin 1;dendritic cell-specific intracellular adhesion molecules (ICAM)-3 grabbing non-integrin APPROVED protein-coding ENSG00000090659 HGNC:1641 05241 604672;607948;609423;614371 REVIEWED 1345556 CD24P1 CD24 molecule pseudogene 1 1 1 1 p36 14419341 14424305 - 15936477 15941441 - 15609982 15614946 - 7959762 935 ABBA01004706;AL121992;AMYH02000363;NG_009856 CD24L1 APPROVED pseudo HGNC:1646 INFERRED 1323011 CD226 CD226 molecule This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. [provided by RefSeq, Jul 2008] 18 18 18 q22.3 64377737 64472107 - 67530192 67624412 - 69862956 69961805 - 1580863;6480464;8554872 10591186;12477932;12847109;12913096;14676297;15039383;15136589;15138281;15489334;15536144;15607800;15693793;16015041;16304049;16388732;16831868;16887814;16987076;17554260;17875681;18657862;18971939;18987646;19380793;19536154;19580844;19624611;19690890;19801517;19820697;19865102;19904767;19951419;20072139;20080650;20089178;20219786;20237496;20301492;20338887;20379614;20399620;20444755;20498205;20508602;20613786;20669283;20887380;21162102;21286723;21296979;21383766;21406724;21521299;21525383;21829393;22139419;22301152;22302395;22427644;22505724;22512842;22531499;22547693;22941566;23073294;23128233;23161903;23262348;23333304;23922043;23980210;23999715;24390342;24451371;24496997;24673109;8673704 10666 J3QKM7;J3QL19;J3QQW1;J3QR77;J3QRQ4;Q15762 ABBA01056288;ABBA01056289;AC011930;AC090231;AC091137;AJ537553;AK313199;AMYH02034930;AMYH02034931;BC074787;CH471117;GU935335;GU935336;NM_006566;U56102;XM_005266642;XM_005266643;XM_006722373;XM_006722374 AAC50560;AAH74787;BAG36015;CAD61184;EAW66515;NP_006557;Q15762;XP_005266699;XP_005266700;XP_006722436;XP_006722437 Hs.660130 1653397;1704354;1718021;1756809 AFMB022WE1;RH122627;SHGC-143948;SHGC-78167 DNAM-1;DNAM1;PTA1;TLiSA1 CD226 antigen;DNAX accessory molecule 1;DNAX accessory molecule-1;OTTHUMP00000163693;T lineage-specific activation antigen 1 antigen;adhesion glycoprotein;platelet and T cell activation antigen 1 APPROVED protein-coding ENSG00000150637 HGNC:16961 09252 605397 REVIEWED 1353954 CD248 CD248 molecule, endosialin ENCODES a protein that exhibits calcium ion binding (inferred); carbohydrate binding (inferred); extracellular matrix binding (inferred); INVOLVED IN anatomical structure regression (inferred); cell migration (inferred); lymph node development (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; potassium dichromate 11 11 11 q13 63401790 63404347 - 66081958 66084515 - 66314487 66317044 - 6480464 10947988;11084048;11489895;12477932;1438285;14702039;15489334;15624764;15862292;16076089;17986615;18187565;18192970;18490383;18723498;18761022;18813310;19948061;20484976;21362178;21490589;21537839;21926972;22206249;22824847 57124 Q9HCU0 ABBA01024085;AF279142;AJ295846;AK027290;AMYH02024975;AP001107;BC051340;BC104484;BC105633;BQ005949;CH471076;NM_020404 AAG00867;AAH51340;AAI04485;AAI05634;BAB55018;CAC34381;EAW74511;NP_065137;Q9HCU0 Hs.195727 1769056 STS-R55548 CD164L1;MGC119478;MGC119479;TEM1 2610111G01Rik;CD164 sialomucin-like 1;CD248 antigen, endosialin;OTTHUMP00000235028;endosialin;tumor endothelial marker 1 protein-coding ENSG00000174807 HGNC:18219 06933 606064 VALIDATED 1323159 CD22 CD22 molecule ENCODES a protein that exhibits carbohydrate binding (inferred); INVOLVED IN cell adhesion (inferred); PARTICIPATES IN B cell receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; arsenous acid 19 19 19 q13.1 32533518 32551714 + 35820069 35838264 + 35329166 35347361 + 1580863;6480464;6907045;8554872 10079291;10228003;10748054;11215824;11356834;11551923;11826756;11882357;11967116;11994426;12477932;12646615;12853962;1401903;15057824;15133509;15240561;15588985;15668918;15899772;16344560;16806233;1691828;17055225;17493148;17562860;17585360;17728258;18174230;19150402;1985119;19913121;19919568;20172905;20237496;20628086;20726320;20841423;21178016;21178327;21348573;21629223;21961844;22017452;22355053;22986740;23083346;23184497;25015289;7537381;7618087;7925291;8125298;8463235;8475064;8496602;8627166;8647200;8702538;8889548;9120258;9143697;9774390;9890995 933 E7ERG6;M0QY05;M0QY14;M0QYP4;M0QZ01;M0QZP5;M0QZR7;M0R0R6;M0R1M2;M0R2M0;M0R2R8;M0R3H1;P20273;Q0EAF5 AB012995;AB012996;AB012997;AB012998;AB012999;AB013000;AB013002;AB013003;AB013004;AB013005;AB013006;AB013007;AB253793;AB253794;AB253795;ABBA01018740;AK026467;AK225625;AK225694;AK301177;AMYH02035983;BC109306;BC109307;BQ054599;CF138699;DA931592;DA989528;DB333800;EF064756;HC042771;KC877723;NM_001185099;NM_001185100;NM_001185101;NM_001278417;NM_001771;S61375;U62631;X52785;X59350 AAB06448;AAB06449;AAC18956;AAI09307;ABK41939;BAA36564;BAA36565;BAA36566;BAA36567;BAA36568;BAA36569;BAA36571;BAA36572;BAA36573;BAA36574;BAA36575;BAA36576;BAB15489;BAF32756;BAF32757;BAF32758;BAH13422;CAA36988;CAA42006;CBH30554;NP_001172028;NP_001172029;NP_001172030;NP_001265346;NP_001762;P20273 Hs.579691 2106975;2130793;2131217;5024413 CD22_7234;G15883;L17877;RH18118 BL-CAM;FLJ22814;MGC130020;SIGLEC-2;SIGLEC2 B-cell receptor CD22;B-lymphocyte cell adhesion molecule;CD22 antigen;T-cell surface antigen Leu-14;sialic acid binding Ig-like lectin 2;sialic acid-binding Ig-like lectin 2 protein-coding ENSG00000012124 HGNC:1643 00114 107266 VALIDATED 736340 CD24 CD24 molecule This gene encodes a sialoglycoprotein that is expressed on mature granulocytes and B cells and modulates growth and differentiation signals to these cells. The precursor protein is cleaved to a short 32 amino acid mature peptide which is anchored via a glycosyl phosphatidylinositol (GPI) link to the cell surface. This gene was missing from previous genome assemblies, but is properly located on chromosome 6. Non-transcribed pseudogenes have been designated on chromosomes 1, 15, 20, and Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] Y 6 6 q21 6620552 6622554 + 274454 280365 - 106969831 106975454 - 1358462;1580863;6480464 14657362 10037815;10575223;11272271;11313396;12218294;12368195;12447971;12477932;12496407;12610508;12829373;1327504;14702039;15174142;15489334;15493995;15616015;15633604;16125303;16164042;16166435;16288985;16344560;16390867;16532032;16606832;16621031;16631259;16681720;16769998;16885410;16890615;16892043;16900767;16930538;17411341;17475624;17540049;17700640;17763438;17900673;17944116;17950993;17980703;1831224;18381780;18384848;18404683;18413748;18417991;18495204;18559090;18566397;18632604;18752058;19043399;19050962;19072375;19092120;19130400;19243896;19264983;19610054;19706825;19725119;19786366;19787233;19794958;19860845;19896210;19906290;19946098;19998456;20019840;20177845;20199686;20230526;20336055;20354454;20378664;20405247;20491779;20567952;20574427;20619441;20621328;20628624;21041728;21086907;21147107;21266361;21299347;21308865;21359202;2153173;21536545;21633165;21641619;21666711;21676268;21684315;21697762;21710320;21726833;21802218;21806966;21813394;21815873;21824412;21828044;21835433;21849440;21935375;21956537;21961844;21984372;22014860;22119938;22135002;22237177;22262195;22322379;22335271;22354323;22369943;22480875;22500096;22528516;22529013;22610780;22731636;22745528;22760497;22800863;22839505;22855175;22926560;23011824;23012401;23028444;23087328;23112116;23143956;23300877;23314606;23318912;23396061;23398509;23419168;23532603;23539485;23553902;23600676;23679566;23679813;23775727;23835592;23836489;23852892;24166603;24167614;24193512;24286662;24366074;24501201;24977325;7553654;7736776;7959762;8213086;8223854;8753773;8928617;9129046 100133941 B6EC88;P25063 ABBA01026189;AK026603;AK125531;AL535013;AU125939;BC064619;BG260536;BG755979;BT007404;BU580553;D87667;DA253943;DA378105;DA518957;DA745135;DA753855;DQ530230;DQ530231;DQ530232;DQ530233;DQ530234;FJ226006;FP885534;JC231858;L33930;M58664;NG_041768;NM_001291737;NM_001291738;NM_001291739;NM_013230;NR_117089;NR_117090;X69397;XM_005278329 AAA35665;AAB58807;AAH64619;AAP36068;ABM84738;ABM92253;ACI46150;CAA49195;CDM22271;NP_001278666;NP_001278667;NP_001278668;NP_037362;P25063;XP_005278386 Hs.644105;Hs.712050 1662914;1686452;1688196;1743969;1743973;1743975;1744969;1795060;1795510;2152614;5116842;5116844 CD24_1314;DYS415;GDB:384220;GDB:384235;GDB:384236;GDB:585571;PMC95860P1;RH15606;RH66795;RH70313;sY3210;sY3211 CD24A;FLJ22950;FLJ43543;MGC75043 CD24 antigen (small cell lung carcinoma cluster 4 antigen);cd24 antigen;signal transducer CD24;small cell lung carcinoma cluster 4 antigen APPROVED protein-coding ENSG00000272398 HGNC:1645 600074 REVIEWED 1347175 CD24P2 CD24 molecule pseudogene 2 15 15 15 q21.3 33252315 33255067 + 56363537 56366289 + 56071339 56074091 + 7959762 936 ABBA01039010;AC084783;AC247040;NG_009857 1688196;1743973;1795060;1795510;2152614 CD24_1314;GDB:384235;PMC95860P1;RH66795;RH70313 CD24L2 APPROVED pseudo HGNC:1647 INFERRED 736538 CD247 CD247 molecule The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q24.2 140509330 140597130 - 167399877 167487847 - 167430640 167518610 - 1600789;1580863;6480464;6484113;6907045;7240710;8554872;8699517 16672702 10224289;10424441;10449770;10704231;10722370;10799879;11048639;11349123;11353765;11390434;11463741;11525746;11572860;11714771;11827988;11851345;11891219;11916964;11920499;11950832;12100036;12110186;12165490;12176041;12202152;12356870;12420108;12421992;12477932;12522270;12587826;12731048;12734410;12755691;12847689;12902492;12928398;1385158;1385321;1390434;14523017;14526327;1454062;14550268;14672952;14715568;14757743;14967045;15084271;15144186;15186530;15274412;1530920;15323357;1532817;15489334;15489916;15592455;15641485;15659558;15743765;15749888;15879101;15922712;16049493;16094384;16337488;16393980;16454711;16461343;16616055;16710414;17001685;17054067;17055436;17134238;17134755;1717577;17176095;17255353;17464179;17652306;17951997;17997796;18051367;18174230;18178846;18207249;18215426;18438604;18463433;18505733;18714041;18721908;18787188;19064610;19082633;19090773;19201859;19229850;19259799;19422667;19536175;19664385;19710135;19898481;20032419;20118245;20179761;20190752;20237496;20383147;20453842;20637659;20723304;2111780;2138083;2138330;21383967;2145165;21474487;21669053;21669059;21750679;21779181;21988832;22004975;22221142;22292024;22294642;22345473;22401598;22505724;22536368;22551306;22798681;22844345;22911005;23057733;23228155;23525753;23559827;23861880;23916875;24204825;24797614;24816145;2845582;2974162;3478717;3785426;7514106;7517794;7526385;7528772;7589084;7629168;7680960;7737297;7842742;8125298;8176201;8366117;8409430;8417118;8621646;8626561;8656061;8675217;8760790;8809126;8906806;8977276;9036949;9045614;9047237;9172452;9368621;9448136;9484780;9485181;9510190;9575182;9625766;9677202;9687533;9743208;9880255 919 A46461;P20963;Q6KAV0 ABBA01047243;ABBA01047244;AF228312;AI420774;AK128376;AK223325;AK313946;AL031733;AL359962;AL557555;AMYH02002089;AMYH02002090;AMYH02002091;BC025703;BI819937;CH471067;DQ072717;EF364119;EU117371;EU117372;EU117373;EU118788;EU118789;EU118790;EU118791;EU118792;EU118793;EU597245;J04132;NG_007384;NM_000734;NM_198053;S51397;S94400;S94404;S94414;S94421;X55510;X55511;X55512 A46461;AAA60394;AAB22030;AAB24602;AAF34793;AAH25703;AAY57330;ABM84704;ABQ28690;ABW03642;ABW06577;ABW06578;ABW06579;ABW96174;ABW96175;ABW96176;ABW96177;ABW96178;ABW96179;ACC61185;BAC87407;BAD97045;BAG36664;EAW90790;EAW90791;EAW90792;NP_000725;NP_932170;P20963 Hs.156445 1667129;1675337;1793172;1795516;2110847;2113660;2145031 CD3Z;CD3Z_527;D1S61;PMC197251P5;RH17588;RH93108;STS-M78967 CD3-ZETA;CD3H;CD3Q;CD3Z;IMD25;T3Z;TCRZ CD247 antigen, zeta subunit;CD3Z antigen, zeta polypeptide (TiT3 complex);CD3zeta chain;OTTHUMP00000032543;OTTHUMP00000032544;T-cell antigen receptor complex, zeta subunit of CD3;T-cell receptor T3 zeta chain;T-cell surface glycoprotein CD3 zeta chain;TCR zeta chain;cd3 antigen, zeta polypeptide APPROVED protein-coding ENSG00000198821 HGNC:1677 01729 186780;610163 REVIEWED 1351433 CD24P3 CD24 molecule pseudogene 3 20 20 q11.21 30098078 30099571 + 31510275 31511768 + 7959762 937 ABBA01019307;AL121751;AMYH02036895 CD24L3 APPROVED pseudo HGNC:1648 MODEL 6482941 CD27-AS1 CD27 antisense RNA 1 ASSOCIATED WITH LYMPHOPROLIFERATIVE SYNDROME 2 (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin 12 12 12 p13.31 8165059 8177574 - 6548167 6560683 - 6439001 6451517 - 6480464;8554872 12477932;14702039 678655 ABBA01017642;AC005840;AK056500;AK128574;AK307123;AMYH02025951;BC033973;BC041960;BC047072;KF570263;NR_015382 Hs.655224 1656391;2137196;2161282;5015619 D11S3114;RH17725;SHGC-2359;WI-7129 RP1-102E24.5 APPROVED ncrna ENSG00000215039 HGNC:43896 PREDICTED 1352393 CD24P4 CD24 molecule pseudogene 4 INTERACTS WITH cyclosporin A Y Y Y q11.222 6620552 6622554 + 21152526 21154705 - 18990640 18992819 - 6480464 1327504;15489334;1831224;7959762 938 AC009235;NG_006012;S75311 Hs.644105 1662914;1686452;1688196;1743969;1743973;1743975;1744969;1795060;1795510;2152614;5116842;5116844 CD24_1314;DYS415;GDB:384220;GDB:384235;GDB:384236;GDB:585571;PMC95860P1;RH15606;RH66795;RH70313;sY3210;sY3211 CD24L4 APPROVED pseudo HGNC:1649 INFERRED 1353701 CD27 CD27 molecule The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008] 12 12 12 p13 8170942 8177775 + 6554051 6560884 + 6444885 6451718 + 1580863;1581860;6480464;8699517;7240710;8554872 16698589 10809378;11062504;11801693;11976819;12009595;12197885;12324477;12464570;12477932;12624711;12685844;12743427;1334106;14556986;14702039;15230280;15301860;15340161;15356138;15489334;15685542;15723067;16272303;1655907;16683188;16751420;16802356;16951333;1711157;17475894;17548342;17785788;17942751;18005092;18216294;18322179;18512812;18774388;19109206;19290077;19322201;19556308;19698733;19773279;19776762;19866343;20201989;20237496;20377416;20393787;20568250;20699361;20800603;20800938;20879061;21048031;21182090;21237436;21277898;21607290;21917027;21952639;22087280;22197273;22232214;22280534;22399187;22429370;22801960;23002119;23263849;23456842;23576505;23594958;23677477;23738704;23747721;23826263;24250222;24286662;2442250;24965774;2837508;7479974;8120384;8186199;8530100;8580829;9177220;9263011;9582383;9692890;9767422;9794406;9862673 939 P26842 ABBA01017642;AC005840;AK315732;AMYH02025951;AY504961;BC012160;BI225100;CH471116;HI179022;HI574192;JA323323;JB239787;M63928;NG_031995;NM_001242 AAA58411;AAH12160;AAR84239;ABM83222;ABW03460;BAG38087;CBX47585;CBX53820;CCA78935;CDH61611;EAW88800;NP_001233;P26842 Hs.355307 1656391;2137196;2218100 RH17725;TNFRSF7_2819;WI-7129 MGC20393;S152;S152. LPFS2;T14;TNFRSF7;Tp55 CD27 antigen;CD27L receptor;OTTHUMP00000238557;T cell activation antigen CD27;T cell activation antigen S152;T-cell activation antigen CD27;tumor necrosis factor receptor superfamily member 7;tumor necrosis factor receptor superfamily, member 7 APPROVED protein-coding ENSG00000139193 HGNC:11922 01723 186711;615122 REVIEWED 1347906 CD2AP CD2-associated protein This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008] 6 6 6 p12 49001627 49151084 + 47445482 47594999 + 47477746 47627263 + 1581187;1600628;1580863;6480464;7240710;8699517;8554872 12764198;16088078 10339567;10913159;10997929;11067845;11733557;12029088;12477932;12530983;12559036;12618476;12672817;12690097;14679214;14736876;15128873;15489334;15592455;15659563;15800069;16344560;16678097;16707503;16895919;17020880;17072306;17081983;17188587;17283187;17428861;17474147;17606992;17713465;17823309;17853893;17922258;18029348;18396147;18654987;18753381;18791326;19056867;19131354;19380743;19738201;19945749;19956976;20360068;20379614;20404345;20457601;20515931;20654576;20697350;21460840;21460841;21519904;21655212;21706016;21822214;21890473;21911934;21963094;21988832;22412018;22623428;22706086;22745667;22863883;22880102;22939629;23279575;23681557;24039852;24162737;24167568;24322428;24816145;25036637;8889548;9741631 23607 Q9Y5K6 ABBA01050606;ABBA01050607;ABBA01050608;AF146277;AF164377;AJ420469;AL050105;AL355353;AL356421;AL358178;AMYH02013695;AMYH02013696;BC069444;BU679191;CH471081;DA040834;NG_008878;NM_012120;XM_005248976;XM_005248977 AAD34595;AAF80495;AAH69444;CAB43274;EAX04319;NP_036252;Q9Y5K6;XP_005249033;XP_005249034 Hs.485518 1336337;1657600;1685225;1704916;1739081;1771078;1857817;2175556 78;D6S1352;D6S1689;RH46766;RH70071;RH91996;SHGC-79935;WI-17603 CMS;DKFZp586H0519 Cas ligand with multiple Src homology 3 (SH3) domains;OTTHUMP00000016562;adapter protein CMS;cas ligand with multiple SH3 domains APPROVED protein-coding ENSG00000198087 HGNC:14258 05026 604241;607832 REVIEWED 1323355 CD2BP2 CD2 (cytoplasmic tail) binding protein 2 This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008] 16 16 16 p11.2 29932030 29936625 + 30362087 30366682 - 30350766 30355361 - 1580863;6480464 10404223;10574461;12226669;12426371;12477932;15105431;15489334;15840814;15850374;16000308;16120600;16403013;16712791;16941565;16949628;17081983;17332742;17353931;17467737;17906334;1831175;19389623;19615732;19759913;20360068;21145461;22113938;22365833;22939629;22990118;24816145;25036637;2527369;8889548;9843987 10421 O95400;Q5QTR6 AB033004;ABBA01042020;AC106782;AC243825;AF104222;AF109192;AK315708;BC000495;BC001947;BC013854;BC106082;BM678260;CB135964;CH471192;NM_001243646;NM_006110 AAC84141;AAH00495;AAH01947;AAQ13502;ABM84500;ABW03431;BAA86492;BAG38069;EAW52260;EAW52261;NP_001230575;NP_006101;O95400 Hs.202677 1682652;1683747;1690428;1698636;1736598;1736620;1778355 Cda1bg06;D16S2595E;D16S2607E;RH102875;RH78448;RH98473;SHGC-60983 FWP010;LIN1;PPP1R59;Snu40;U5-52K CD2 antigen (cytoplasmic tail) binding protein 2;CD2 antigen cytoplasmic tail-binding protein 2;CD2 binding protein 2;CD2 cytoplasmic domain binding protein 2;CD2 cytoplasmic domain-binding protein 2;CD2 tail-binding protein 2;OTTHUMP00000163230;U5 snRNP 52K protein;protein phosphatase 1, regulatory subunit 59 APPROVED protein-coding ENSG00000169217 HGNC:1656 05127 604470 REVIEWED 736436 CD244 CD244 molecule, natural killer cell receptor 2B4 This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 1 q23.3 133868617 133900871 - 160799950 160832692 - 160830160 160862902 - 1580863;6480464;7240710;8554872 10358138;10359122;10458320;10556801;10934222;11003394;11034353;11163399;11342640;11477068;11689425;11714776;11714782;11774610;11815622;11917118;11986947;12077228;12363025;12477932;12515815;15169881;15195244;15340161;15356108;15489334;15611233;15677558;15713798;16002700;16049493;16081768;16177062;16410313;16585556;16621032;16803907;16983070;17111350;17171759;17207965;17213291;17300754;17599905;17609265;17981603;18296487;18479751;18523281;18794858;19499526;19586919;19638467;19790054;19904767;20164429;20237496;20345977;20379614;20437071;20813844;21064032;21102463;21214542;21270395;21439641;21586211;21606496;21625589;22230401;22438812;23128233;23225218;23360454;23913963;24496997;24659462;3772297;9834056;9841922 51744 Q96RQ2;Q9BZW8 ABBA01016608;ABBA01016609;ABBA01016610;ABBA01016611;AF105261;AF107761;AF117711;AF145782;AF242540;AF297616;AF363452;AJ245375;AJ245376;AJ245377;AK295950;AK313201;AL354714;AMYH02002027;BC028073;BC041607;BC053985;CH471121;CS173034;NG_015991;NM_001166663;NM_001166664;NM_016382 AAD32538;AAD37838;AAD38951;AAF28833;AAH28073;AAH53985;AAK00233;AAK50015;AAK57926;ADQ32932;BAG36017;BAG58732;CAC00647;CAC00648;CAC00649;CAJ33698;EAW52691;EAW52692;EAW52693;EAW52694;NP_001160135;NP_001160136;NP_057466;Q9BZW8 Hs.157872 1647397;1706254 D1S2348;SHGC-80670 2B4;NAIL;NKR2B4;Nmrk;SLAMF4;h2B4 NK cell activation inducing ligand NAIL;NK cell activation-inducing ligand;NK cell type I receptor protein 2B4;OTTHUMP00000027884;OTTHUMP00000027885;OTTHUMP00000027886;OTTHUMP00000027887;SLAM family member 4;natural killer cell receptor 2B4;non mhc restricted killing associated;signaling lymphocytic activation molecule 4 APPROVED protein-coding ENSG00000122223 HGNC:18171 16121 180300;605554 REVIEWED 1605684 CD274 CD274 molecule INVOLVED IN cell surface receptor signaling pathway; immune response; positive regulation of interleukin-10 secretion; ASSOCIATED WITH Encephalitis, Viral (ortholog); Multiple Sclerosis, Chronic Progressive (ortholog); Transplant Rejection (ortholog); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; 1,4-phenylenediamine; 1-chloro-2,4-dinitrobenzene 9 9 9 p24 5376139 5396204 + 5450503 5470567 + 5450399 5470567 + 6480464;6893669;6893671;8657365 14662900;20876353;21494618 10581077;11015443;11224527;12091876;12244148;12468426;12477932;12538684;12606489;12646628;12704383;12719480;12800259;12893276;12923066;14617032;14686489;14702039;15131796;15164053;15297412;15342209;15489334;15780196;15837746;15973152;16002716;16085391;16221208;16265694;16282703;16482562;16493058;16530813;16876901;16916652;17076679;17136123;17186290;17203303;17311651;17360651;17363736;17366897;17415709;17475895;17562772;17597384;17603844;17920123;17938288;17942371;17963598;18024277;18086898;18173375;18203952;18294387;18301333;18322304;18347814;18378285;18476597;18490751;18549878;18550794;18566376;18572307;18578991;18585785;18608206;18650129;18652314;18676751;18684942;18705009;18756622;18756934;18760278;18830259;18850006;18924219;18928614;18941206;18981087;19010538;19056397;19081139;19088198;19116915;19224168;19229109;19264916;19297851;19442732;19451266;19535643;19570392;19597183;19604093;19664385;19684086;19688742;19698245;19703193;19729380;19739236;19759858;19794071;19811426;19826049;19830728;19850680;19916867;19950173;19958630;20066438;20126379;20145927;20349059;20363965;20367936;20373055;20386557;20445553;20450779;20473887;20506224;20513078;20522597;20587542;20601920;20617899;20626886;20628145;20636820;20646001;20661763;20677014;20682852;20722638;20814675;20817864;20943073;21076061;21203985;21268011;21269571;21355078;21442435;21461580;21478111;21503939;21509782;21514692;21540239;21555531;21645441;21659460;21674477;21697455;21730022;21733718;21791547;21821233;21830424;21844574;21851845;21876620;21911310;21912640;21949023;21982860;22067141;22133721;22174448;22190470;22204817;22271878;22285902;22322668;22389764;22397822;22408358;22430646;22441249;22461641;22462616;22482418;22503210;22661084;22711893;22739151;22828443;22851860;22886978;22894700;22895698;23107341;23179191;23193072;23243206;23261407;23275603;23288508;23300177;23340297;23359812;23381841;23383287;23388330;23398844;23403048;23430453;23478000;23508008;23521696;23585913;23613317;23660190;23676558;23756770;23792703;23873101;23907003;23986257;23986400;24005055;24015224;24074616;24091833;24124529;24140000;24187568;24217091;24250222;24270737;24297569;24378899;24497532;24510967;24532425;24624456;24643627;24657498;24658839;24673799;24696476;24708420;24742844 29126 Q0GN75;Q9NZQ7 ABBA01065413;AF177937;AF233516;AI826502;AK001894;AK300470;AK314567;AL135786;AL162253;AMYH02019084;AY254342;AY291313;AY714881;BC069381;BC074984;BC113734;BC113736;CH471071;DQ286582;DQ836393;JA738699;KF458896;NM_001267706;NM_014143;NR_052005;XM_006716759 AAF25807;AAG18508;AAH69381;AAH74984;AAI13735;AAI13737;AAP13470;AAP42144;AAU09634;ABB90152;ABI16084;ADR82905;BAA91966;BAG37149;BAG62189;CCF77002;EAW58763;NP_001254635;NP_054862;Q9NZQ7;XP_006716822 Hs.521989 1645972;1685484;1705354;1797974;1852570 PDCD1LG1_2379;RH45176;RH78877;RH92039;SHGC-83529 B7-H;B7H1;MGC142294;MGC142296;PD-L1;PDCD1L1;PDCD1LG1;PDL1 B7 homolog 1;CD274 antigen;OTTHUMP00000021029;PDCD1 ligand 1;programmed cell death 1 ligand 1;programmed death ligand 1 protein-coding ENSG00000120217 HGNC:17635 05655 605402 VALIDATED 1604282 CD276 CD276 molecule The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of this gene is ubiquitously expressed in normal tissues and solid tumors, the protein is preferentially expressed only in tumor tissues. Additionally, it was observed that the 3' UTR of this transcript contains a target site for miR29 microRNA, and there is an inverse correlation between the expression of this protein and miR29 levels, suggesting regulation of expression of this gene product by miR29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 15 15 15 q23-q24 50871499 50886666 + 73976560 74006859 + 73684281 73714518 + 6480464;8554872 11224528;12055244;12477932;12906861;12975309;14702039;14764704;15188059;15314238;15489334;15682454;15961727;16049332;16274630;16303743;17406098;17851789;18292521;18650384;18676751;18690846;18694993;18941196;19269710;19454675;19544488;20035626;20333377;20696859;21107115;21127709;21251161;21344157;21518725;21597388;21671471;21738484;21784485;21792917;21875946;21893365;21906983;21963094;21982044;21987572;22001757;22187944;22473715;22487487;22729558;22863596;22910694;22996270;23107341;23128494;23242015;23474948;23746248;23916610;23940627;24139879;24140000;24236063;24577056;24630518;24787022;25001942 80381 B4DK26;H0YK40;H0YK59;H0YKQ9;H0YL10;H0YLT3;H0YLT8;H0YN29;H0YN85;H3BM68;Q5ZPR3 ABBA01038707;ABBA01038708;AC022188;AC100838;AF302102;AJ583695;AJ583696;AK074849;AK074997;AK075549;AK291721;AK292711;AK296358;AK298522;AK309728;AL360136;AMYH02030773;AMYH02030774;AMYH02030775;AX047070;AX097550;AY358343;BC011578;BC062581;BQ278722;CA420873;CB529187;CH471082;NM_001024736;NM_025240;XM_005254699;XM_005254700 AAH62581;AAK15438;AAQ88709;BAC11243;BAC11344;BAC11692;BAF84410;BAF85400;BAG59038;BAG60725;CAC18949;CAC35428;CAE47548;EAW77933;EAW77934;NP_001019907;NP_079516;Q5ZPR3;XP_005254756;XP_005254757 Hs.744915 1644617;1664255;2129151 RH44372;RH77831;STS-W52184 4Ig-B7-H3;B7-H3;B7H3;B7RP-2 B7 homolog 3;CD276 antigen;OTTHUMP00000174913;OTTHUMP00000174914;costimulatory molecule APPROVED protein-coding ENSG00000103855 HGNC:19137 05756 605715 VALIDATED 735932 CD28 CD28 molecule The protein encoded by this gene is essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] 2 2 2 q33 198326049 198357410 + 204571198 204603635 + 203706475 203738912 + 1358478;1580863;2307200;2307201;2307197;2307202;2307203;2307204;2307199;2307205;5131622;5131621;5131613;5131614;5131611;5131612;5131616;4892281;5131619;5131620;5131618;6480464;6907045 11160314;11685455;12750179;12864982;14975605;15504310;16061730;17989345;18056387;18057064;18601859;18801465;19075187;19220836;20030671;20395561;20713624;21356099;21389258;9410902 10430626;10586033;10618429;10754293;10820259;11021528;11123293;11285224;11390434;11500828;11680900;11713465;11714771;11735222;11826026;11826754;11830501;11877290;11884439;11916166;11932928;11958588;11986289;12028592;12036883;12050373;12059054;12077252;12097397;12121659;12167647;12195013;12195015;12207353;12297341;12324461;12377947;12393716;12434947;12477932;12482386;12506015;12626540;12660731;12734410;12777399;12836198;12842899;12864988;12928366;12952926;12963692;1313075;1355979;14550257;14642527;14697933;14984593;15019278;15067037;15078178;15079071;15144186;15194762;15214045;15280538;15284240;15353589;15489334;15494485;15554700;15592455;15610849;15815621;15953005;16005527;16091223;16094384;16112024;16136471;16169852;16237465;16339520;16344560;16354571;16454711;16493040;16564528;16638702;16698688;16708397;16801532;16818765;16969077;17015696;17023015;17060905;17119120;17197413;17237383;17242350;17284227;17311991;17467674;17703412;17767555;17785788;17804530;17878327;17878391;17899554;18097023;18162511;18174230;18211507;18246813;18295596;1832084;18337305;18389481;18390701;18396212;18438604;18473783;1847722;18566382;18566447;18570590;18573819;18617642;18625635;18641304;18680513;18684977;18751903;18802089;18829987;18989760;19086656;19109140;19149577;19190244;19202444;19203082;19211796;19214786;19217084;19258923;19275586;19284445;19299722;19327048;19333372;19380781;19449444;19573080;19641626;19672595;19735272;19752224;19770068;19773279;19824886;19852851;19857736;19898481;19913589;19959217;20012528;20113255;20126467;20137575;20140740;20190752;20228198;20237496;20331378;20368329;20371478;20380698;20390280;20433886;20435510;20463068;20470888;20477885;20503287;20568250;20638642;20716621;20814620;20842443;20844584;20846283;20858890;20863851;20962715;21048031;21068258;21160481;21268019;21277899;21291098;21324454;21384512;21508506;21530327;21540550;21543478;21544637;2156778;2157764;2162892;21669243;21677403;21715687;21841780;21922073;21931534;21982860;22013062;22013130;22094905;22103833;22175768;22230325;22385243;22503210;22505724;22579879;22732586;22783574;22844345;22896637;22911005;22917707;22980333;23133541;23163888;23224761;23411043;23456842;23470321;23483974;23532603;23589613;23747721;23847689;23966623;23986795;24043548;24057239;24103478;24374661;24390342;24548923;24726754;24782505;24951814;2825196;3159820;3875683;7492435;7509360;7513726;7516408;7523532;7539755;7541827;7545666;7566098;7589092;7737275;8080844;8386518;8450224;8576157;8621607;8706326;8717514;8760790;8992971;9032261;9045614;9328113;9510190;9620604;9694876;9784967;9915850 940 B4E0L1;P10747 AA311148;ABBA01062617;AC125238;AF222341;AF222342;AF222343;AF411057;AJ295273;AJ517504;AK292986;AK303421;AK313313;AMYH02005602;AW241446;BC093698;BC112085;BF509568;CH471063;DA939711;EF064755;J02988;M37815;NG_029618;NM_001243077;NM_001243078;NM_006139;XM_006712862 AAA51944;AAA51945;AAA60581;AAF33792;AAF33793;AAF33794;AAH93698;AAI12086;AAL40931;AAY24123;ABK41938;BAF85675;BAG36118;BAG64473;CAC29237;CAD57003;EAW70347;EAW70348;EAW70349;EAW70350;EAW70351;NP_001230006;NP_001230007;NP_006130;P10747;XP_006712925 Hs.443123 1795238;2134281;2183293;5037552 CD28_86;D2S2596;D8S2279;RH68962 MGC138290;Tp44 CD28 antigen;OTTHUMP00000163782;OTTHUMP00000206300;OTTHUMP00000206302;T-cell-specific surface glycoprotein CD28 APPROVED protein-coding ENSG00000178562 HGNC:1653 01727 186760 REVIEWED 1344130 CD300A CD300a molecule This gene encodes a member of the CD300 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a cluster with all but one of the other family members. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 17 17 17 q25.1 69054982 69073423 + 72462509 72480937 + 74466374 74484798 + 6480464;8554872 10540326;10746781;12456026;12477932;1349532;15489334;16254138;16339535;17588661;18424727;18535206;19359216;19592130;20237496;20498708;20656921;21482706;22043923;22046970;22173928;22185693;22302738;22537350;23333304;24058511;9701027 11314 J3QKQ4;Q9UGN4 ABBA01028838;AC079325;AF020314;AF161346;AF176991;AJ010101;AJ010102;AJ010103;AJ224864;AJ238323;AK309631;AK309636;AMYH02033976;BC020681;BC032352;BF059016;BM923070;CH471099;JA738695;JC231900;NM_001256841;NM_007261;XM_005256990;XM_005256991;XM_005256992;XM_006721656 AAD01646;AAF28906;AAF89957;AAH32352;CAB52291;CAB52292;CAB52293;CAB55347;CAB66145;CCF77000;CDM22292;EAW89166;EAW89167;EAW89168;NP_001243770;NP_009192;Q9UGN4;XP_005257047;XP_005257048;XP_005257049;XP_006721719 Hs.9688 1739653;1760265;1853897;2135780;2144020;2176388;5092984 A009D33;D17S1727E;D17S1985;D17S690;G32451;SHGC-132578;SHGC-36245 CLM-8;CMRF-35-H9;CMRF-35H;CMRF35-H;CMRF35-H9;CMRF35H;CMRF35H9;IGSF12;IRC1;IRC1/IRC2;IRC2;IRp60 CD300 antigen-like family member A;CD300a antigen;CMRF35-like molecule 8;CMRF35H leukocyte immunoglobulin-like receptor;NK inhibitory receptor;OTTHUMP00000070877;OTTHUMP00000070878;OTTHUMP00000070879;immunoglobulin superfamily member 12;inhibitory receptor protein 60;leukocyte membrane antigen APPROVED protein-coding ENSG00000167851 HGNC:19319 09492 606790 VALIDATED 1349208 CD300C CD300c molecule The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 69129737 69134772 - 72537204 72542310 - 74541065 74546171 - 6480464;8554872 10746781;11556966;12415263;12456026;12477932;1349532;15342556;15489334;18535206;19359216;19592130;20656921;21988832;22046970;23372157;23571507 10871 Q08708 ABBA01028836;AC079325;AF373866;AMYH02033977;BC022279;BF508242;BP298972;CH471099;NM_006678;X66171 AAH22279;AAK64272;ABM82926;ABM86116;CAA46948;EAW89171;NP_006669;Q08708 Hs.2605 1797412 CMRF35_1922 CLM-6;CMRF-35;CMRF-35A;CMRF35;CMRF35-A1;CMRF35A;CMRF35A1;IGSF16;LIR CD300 antigen-like family member C;CD300c antigen;CMRF35 antigen;CMRF35 leukocyte immunoglobulin-like receptor;CMRF35-like molecule 6;CMRF35A leukocyte immunoglobulin-like receptor;OTTHUMP00000070874;immunoglobulin superfamily member 16 APPROVED protein-coding ENSG00000167850 HGNC:19320 09491 606786 VALIDATED 2290269 CD300LD CD300 molecule-like family member d INVOLVED IN immune system process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog) 17 17 17 q25.1 69168587 69180824 - 72576111 72588370 - 74579972 74592231 - 6480464;8554872 12975309;19359216;19592130;21982860;22291008;23072861 100131439 Q6UXZ3 ABBA01028836;AC079325;AMYH02033978;AY358148;EF137868;NM_001115152 AAQ88515;ABM30606;NP_001108624;Q6UXZ3 Hs.531099 CD300D;CLM-4;CMRF35-A4;CMRF35A4 CD300 antigen-like family member D;CMRF35-like molecule 4;OTTHUMP00000070883;immune receptor CD300d protein-coding HGNC:16848 PROVISIONAL 1605230 CD300E CD300e molecule This gene encodes a member of the CD300 glycoprotein family of cell surface proteins expressed on myeloid cells. The protein interacts with the TYRO protein tyrosine kinase-binding protein and is thought to act as an activating receptor. [provided by RefSeq, Nov 2012] 17 17 17 q25.1 69201147 69212237 - 72606022 72619897 - 74609883 74623758 - 6480464;8554872 12477932;15549731;15557162;16920917;19359216;19592130;20039296;20200953;23072861 342510 B4E0V9;C9JDD2;J3KPN5;J3KR39;Q496F6 ABBA01028836;AC064805;AF395839;AK298031;AK303545;AMYH02033978;BC100888;BC100889;BC100890;BX648376;CH471099;NM_181449 AAI00889;AAI00890;AAI00891;AAP42154;BAG60333;BAG64571;EAW89175;EAW89176;NP_852114;Q496F6 Hs.158954 1719147 RH123291 CD300LE;CLM-2;CLM2;CMRF35-A5;IREM-2;IREM2;PIgR-2;PIgR2 CD300 antigen like family member E;CD300 antigen-like family member E;CD300e antigen;CMRF35-like molecule 2;OTTHUMP00000070871;immune receptor expressed on myeloid cells 2;poly-Ig receptor 2;polymeric immunoglobulin receptor 2 APPROVED protein-coding ENSG00000186407 HGNC:28874 17158 609801 VALIDATED 1603897 CD300LF CD300 molecule-like family member f This gene encodes a member of the CD300 protein family. Members of this family are cell surface glycoproteins with a single IgV-like extracellular domain, and are involved in the regulation of immune response. The encoded protein is an inhibitory receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 17 17 17 q25.1 69283430 69302299 - 72690447 72709169 - 74694308 74713000 - 6480464 12477932;12975309;14662855;14702039;15184070;15340161;15342556;15489334;15549731;16344560;17202342;19359216;19592130;20031577;20646006;21536801;21832049;21951326;22043923;22288587;23072861;23969696;24035150;8889548 146722 B4DQD2;J3KS52;Q8TDQ1 ABBA01028833;AC016888;AF251706;AF375480;AF375481;AK092757;AK298752;AK315165;AMYH02033979;AY303545;AY358545;BC028199;BI911496;BM147210;BM680508;BM922663;BM923728;BP226373;CH471099;DA673169;DQ153249;HI565651;NM_001289082;NM_001289083;NM_001289084;NM_001289085;NM_001289086;NM_001289087;NM_139018;NR_110298 AAH28199;AAM19099;AAP42152;AAP42153;AAP57942;AAQ88909;AAZ81566;BAC03966;BAG37609;BAG60894;CBX47386;EAW89184;EAW89185;EAW89186;EAW89187;NP_001276011;NP_001276012;NP_001276013;NP_001276014;NP_001276015;NP_001276016;NP_620587;Q8TDQ1 Hs.567706 CD300f;CLM-1;CLM1;IREM-1;IREM1;IgSF13;LMIR3;NKIR CD300 antigen like family member F;CD300 antigen-like family member F;CD300 molecule like family member f;CMRF35-like molecule 1;NK inhibitory receptor;OTTHUMP00000070875;immune receptor expressed on myeloid cells 1;immunoglobin superfamily member 13;immunoglobulin superfamily member 13;inhibitory receptor IREM1 APPROVED protein-coding ENSG00000186074 HGNC:29883 17635 609807 REVIEWED 1352822 CD320 CD320 molecule This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] 19 19 19 p13.3-p13.2 8223534 8229765 - 8367011 8373439 - 8302127 8308356 - 6480464;7240710;8699517;8554872 10727470;11230166;11256614;11318610;11418631;12477932;12975309;15489334;16712791;18779389;19123977;19946888;20524213;20577008;20627121;20972266;21139048;21906983;21963094;21987572;21988832;22116453;22505724;23000965;23246001;23284715;23603833;24015289;24122983;24250222;25015289;8125298 51293 M0R100;M0R1C4;Q9NPF0 ABBA01010852;AC010323;AF161254;AK058014;AK222623;AK315656;AL136652;AL365453;AL365455;AMYH02035438;AY358420;BC000668;BC007083;BC036814;CB141050;CH471139;CR457174;NG_028124;NM_001165895;NM_016579 AAF61850;AAH00668;AAH07083;AAQ88786;ACE87251;BAD96343;BAG38022;CAB66587;CAB97009;CAB97010;CAG33455;EAW68936;EAW68939;NP_001159367;NP_057663;Q9NPF0 Hs.558499 2160910 RH36281 8D6;8D6A;TCBLR 8D6 antigen;CD320 antigen;FDC-SM-8D6;FDC-signaling molecule 8D6;transcobalamin receptor APPROVED protein-coding ENSG00000167775 HGNC:16692 05929 606475;613646 REVIEWED 1604243 CD300LB CD300 molecule-like family member b CD300LB is a nonclassical activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells (Martinez-Barriocanal and Sayos, 2006 [PubMed 16920917]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 69109803 69120103 - 72516894 72527613 - 74520755 74531474 - 6480464 12477932;12975309;16344560;16920917;17928527;19359216;19592130;20237496;20379614;21832049;23072861 124599 A8K4G0;B4DQ71 ABBA01028838;AC079325;AF427618;AK290925;AK298665;AMYH02033977;AY359025;AY646929;BC028091;CH471099;DA673717;NM_174892;XM_005257027;XM_006721684 A8K4G0;AAH28091;AAN86133;AAQ89384;AAV69612;ABM84511;ABM87832;BAF83614;BAG60833;EAW89169;EAW89170;NP_777552;XP_005257084;XP_006721747 Hs.313343 1765891 SHGC-149307 CD300b;CLM-7;CLM7;CMRF35-A2;IREM-3;IREM3;TREM-5;TREM5 CD300 antigen like family member B;CD300 antigen-like family member B;CD300 molecule like family member b;CMRF35-like molecule 7;OTTHUMP00000070873;immune receptor expressed on myeloid cells 3;leukocyte mono-Ig-like receptor 5;triggering receptor expressed on myeloid cells 5 APPROVED protein-coding ENSG00000178789 HGNC:30811 18223 610705 VALIDATED 1601720 CD300LG CD300 molecule-like family member g Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM, Mar 2008] 17 17 17 q21.31 38632527 38649008 + 41924145 41940997 + 43846777 43863629 + 6480464;8554872 12477932;12975309;15340161;16754720;16876123;17207965;19359216;19592130 146894 K7EL06;Q6UXG3 ABBA01028397;AC007993;AC015937;AF427619;AF427620;AK298112;AK309938;AMYH02033465;AY358364;BC025395;CH471178;DC380538;NM_001168322;NM_001168323;NM_001168324;NM_145273;XM_005257075;XM_005257076;XM_006721721;XM_006721722;XR_243636;XR_243637;XR_243638 AAH25395;AAN86134;AAN86135;AAQ88730;ADQ31684;BAG60397;EAW51657;EAW51658;EAW51659;EAW51660;NP_001161794;NP_001161795;NP_001161796;NP_660316;Q6UXG3;XP_005257132;XP_005257133;XP_006721784;XP_006721785 Hs.147313 1720387;5109795 D17S1504E;RH123945 CLM-9;CLM9;TREM-4;TREM4 CD300 antigen like family member G;CD300 antigen-like family member G;CD300 molecule like family member g;CMRF35-like molecule 9;NEPMUCIN;triggering receptor expressed on myeloid cells 4 APPROVED protein-coding ENSG00000161649 HGNC:30455 18222 610520 VALIDATED 1350388 CD302 CD302 molecule CD302 is a C-type lectin receptor involved in cell adhesion and migration, as well as endocytosis and phagocytosis (Kato et al., 2007 [PubMed 17947679]).[supplied by OMIM, Aug 2008] 2 2 2 q24.2 154236985 154266601 - 160625139 160655115 - 159768628 159798255 - 6480464;8554872 12477932;12824192;15489334;15815621;16344560;17947679;18420585;19317456;19946888;20237496;20861185;20921139;23383108;7584026;7584028;8889548 9936 Q8IX05 ABBA01004868;AC009961;AF499000;AK125081;AK291279;AK304422;AMYH02005077;AMYH02005078;AY314007;BC020646;CB240843;CH471058;D14664;DB217404;DB460994;NM_001198763;NM_001198764;NM_014880 AAH20646;AAN77050;AAP79900;AAY14942;BAA03498;BAF83968;BAG65251;EAX11399;NP_001185692;NP_001185693;NP_055695;Q8IX05 Hs.130014;Hs.153563 1335374;1649421;1858014;2119134;2125281;2170991;5037552;7184866;7186547 A007L02;D2S156;D2S2971;D8S2279;RH25260;RH70502;SGC30020 CLEC13A;DCL-1;DCL1;FLJ43091;KIAA0022;MGC22301 BIMLEC;C-type lectin BIMLEC;C-type lectin domain family 13 member A;C-type lectin domain family 13, member A;CD302 antigen;DEC205-associated C-type lectin 1;OTTHUMP00000205017;type I transmembrane C-type lectin receptor DCL-1 APPROVED protein-coding ENSG00000241399 HGNC:30843 09906 612246 VALIDATED 1346523 CD37 CD37 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46705529 46710715 + 49838632 49843863 + 49335418 49340606 + 634638;1580863;6480464 8436422 10229664;10405235;10529602;11739647;12477932;14978098;15342556;15489334;17182550;17440052;1879540;19913121;19946888;20628086;20709950;22624718;2388030;23883821;24445867;2466944;3257508;8119731;8452817 951 B7ZAN3;M0QZ33;M0QZP6;M0R083;M0R1J1;P11049;Q96LM7 AA767248;ABBA01032933;AC010524;AC011450;AK058093;AK301016;AK301328;AK316348;AL833693;AMYH02036316;BC106752;BC110379;BP309557;BT019851;CH471177;CR541877;HI179050;HI179052;NG_033941;NM_001040031;NM_001774;X14046;XM_005259435;XM_005259436;XM_006723511 AAI06753;AAI10380;AAV38654;BAB71662;BAG62633;BAG62877;BAH14719;CAA32204;CAG46675;CBX53834;CBX53835;EAW52466;EAW52467;EAW52468;NP_001035120;NP_001765;P11049;XP_005259492;XP_005259493;XP_006723574 Hs.166556 1670329;1677558;2144468;5037552 D8S2279;RH93092;STS-AA024912;WI-15345 GP52-40;MGC120234;TSPAN26 CD37 antigen;cell differentiation antigen 37;leukocyte antigen CD37;leukocyte surface antigen CD37;tetraspanin-26;tspan-26 APPROVED protein-coding ENSG00000104894 HGNC:1666 01053 151523 REVIEWED 735841 CD38 CD38 molecule CD38 is a novel multifunctional ectoenzyme widely expressed in cells and tissues especially in leukocytes. CD38 also functions in cell adhesion,signal transduction and calcium signaling. [provided by RefSeq, Jul 2008] 4 4 4 p15 16244567 16315338 + 15779921 15850706 + 15778298 15849083 + 1580863;1300048;2307239;2307232;2307231;2307228;2307229;2307243;2307230;2307227;2307233;2307236;2307234;6480464;6907045 12111041;12242463;12488956;16343077;16459468;16920929;18719074;19073639;19300526;7669044;9754820 10376802;10432444;10477767;10559984;10593874;10636863;10777496;11683883;11836173;11895784;12063025;12368155;12382646;12386160;12461619;12477932;12529675;12551845;12718937;12763926;12854897;12917263;14523017;14596927;1471258;14749705;14759258;14983032;14990397;15028729;15219386;15489334;15556942;15613544;15759031;15764953;15941914;15964076;16154090;16293598;16329108;16369895;16544364;16568475;16571778;16601673;16642047;16825496;16839787;16841181;16861223;16909600;16932341;17028452;17107912;17173996;17191385;17287729;17287849;17322278;17327405;17440035;17534928;17591784;17684154;17786980;17852458;17875758;17931624;18024373;18162778;18178673;18212246;18319522;18322442;18323656;18326821;18341691;18403265;18424664;18431797;18441094;18519230;18519815;18534062;18581239;18616755;18674817;18689273;18759251;18940667;18974118;19021053;19052657;19117080;19240243;19561535;19635790;19644143;19679010;19817952;19866343;19956559;20002855;20237496;20435366;20638362;20640790;20693316;20842205;21051931;21055809;21085635;21134381;21153349;21156171;21182206;21212793;21237436;21330325;21330473;21387169;21423200;21463115;21518472;21528155;21692849;21716207;21765022;21876768;21893160;21933861;21945028;22002134;22020217;22027397;22142305;22171799;22236458;22251373;22278094;22336563;22338471;22556157;22677461;22721814;22773691;22807456;22909798;22955446;22969159;23021410;23100517;23123429;23156678;2319135;23308177;23686733;23716697;23718062;23729443;23755763;23826263;23897063;23940051;24209975;24216102;24275509;24288111;24397353;24489445;7539755;7835083;7961800;8172650;8253715;9074508;9263011;9378973;9551996 952 H0Y950;P28907 AA417096;ABBA01032572;ABBA01032573;ABBA01032574;AC005798;AF001985;AK297592;AK303169;AK313268;AMYH02008802;AMYH02008803;AMYH02008804;AMYH02008805;AMYH02008806;BC007964;CD688069;CH471069;D84276;D84277;D84284;DQ091293;JC231856;M34461;NM_001775;XR_241678 AAA68482;AAH07964;AAY99634;ABM84110;ABW03578;BAA18964;BAA18965;BAA18966;BAG36077;BAG59979;BAG64268;CDM22270;EAW92745;EAW92746;NP_001766;P28907 Hs.479214 1339600;1674071;1674073;1674904;1776628;1797366;1847350;1848604;2146484 AFM212YG7;CD38_2675;D4S2960;G33802;SHGC-16484;SHGC-31590;SHGC-50197;SHGC-59551;SHGC-67228 ADPRC 1;T10 2'-phospho-ADP-ribosyl cyclase;2'-phospho-ADP-ribosyl cyclase/2'-phospho-cyclic-ADP-ribose transferase;2'-phospho-cyclic-ADP-ribose transferase;ADP-ribosyl cyclase 1;ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase;ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1;CD38 antigen (p45);NAD(+) nucleosidase;OTTHUMP00000158633;OTTHUMP00000217743;cADPr hydrolase 1;cd38 antigen;cyclic ADP-ribose hydrolase 1 APPROVED protein-coding HGNC:1667 00116 107270 VALIDATED 736987 CD3D CD3d molecule, delta (CD3-TCR complex) The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009] 11 11 11 q23 115367658 115371328 - 118209789 118213459 - 118339074 118342744 - 1580863;6480464;6484113;6907045;7240710;8699517;8554872 10722370;11048639;11724934;11827988;12215456;12410792;12477932;12522270;12604782;1372642;1385321;14602880;15028279;15144186;15331598;15489334;15489916;15534202;15546002;15592455;15778375;16094384;16407162;16412509;16777597;16822850;16888097;17001685;17023417;17176095;17502376;17632570;17652306;17872946;17923503;17928336;1826255;1831653;1832084;18473783;18541215;18803280;18808677;19056690;19222422;19724882;19726522;19759518;1979339;19942855;20012528;2017177;20179761;20237496;20478055;20511557;20594957;20660709;20824090;2111780;2138083;21669053;21669059;21670311;21926461;21984702;22103833;22401598;22505724;22911005;23336327;24417208;2540970;2826124;2859526;2939461;3478717;3488209;6095101;7495730;7506554;7517794;7539755;7719941;7774645;8020575;8125527;8145026;8176201;8278814;8621641;8809126;9045614;9263011;9485181;9510190;9582308;9743208 915 B0YIY4;E9PMT5;H0YE18;P04234 ABBA01039712;AK311971;AMYH02025637;AP001582;BC039035;BC070321;CD014058;CH471065;EF444964;JN392069;M12727;NG_009891;NM_000732;NM_001040651;X01451;X03934 AAA51792;AAH39035;AAH70321;ACA05962;AEQ93556;BAG34910;CAA25683;CAA27573;EAW67365;EAW67366;NP_000723;NP_001035741;P04234 Hs.504048 1741253;2173268;5124448;7187909 CD3D;GDB:179879;RH93888 CD3-DELTA;IMD19;T3D CD3 antigen, delta subunit;CD3 delta;CD3d antigen, delta polypeptide (TiT3 complex);OKT3, delta chain;OTTHUMP00000234561;OTTHUMP00000234562;OTTHUMP00000234563;OTTHUMP00000234564;T-cell receptor T3 delta chain;T-cell surface glycoprotein CD3 delta chain;cd3 antigen delta polypeptide APPROVED protein-coding ENSG00000167286 HGNC:1673 01730 186790;608971;615617 REVIEWED 1344403 CD3W CD3W antigen, omega polypeptide (TiT3 complex) 918 HGNC:1676 1606023 CD3EAP CD3e molecule, epsilon associated protein ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN rRNA transcription (inferred); transmembrane receptor protein tyrosine kinase signaling pathway (inferred); FOUND IN cytoplasm; mitochondrion; nucleolus; INTERACTS WITH aflatoxin B1; benzene-1,2,4-triol; cobalt dichloride 19 19 19 q13.3 42715573 42720130 + 45909467 45914024 + 45406209 45410766 + 6480464 10373416;12477932;14743216;15226435;15302935;15489334;15936590;16690207;16806233;16809778;16817948;16964243;17131345;17620599;18029348;18289367;19214185;19257887;19396015;19471022;19692168;19734419;19773279;21046104;21693764;21884979;22335888;22751105;22939629;23145133;23624123;24457600;24654937;9426281 10849 K7EMH2;K7EQC8;O15446 ABBA01040926;AC092309;AF017633;AK292183;AMYH02036198;BC009705;BC028109;BC038992;BC046141;BC054044;BC065251;BC108889;BU166593;CH471126;NG_015839;NM_001297590;NM_012099;U86751;XM_005258425 AAB68608;AAD41158;AAH09705;AAH38992;AAH46141;AAH54044;AAI08890;ABZ92467;BAF84872;EAW57346;EAW57347;NP_001284519;NP_036231;O15446;XP_005258482 Hs.710495 1741675;2180884;5014051;5015861;5022576;5037552;5109281;7185938 D10S16;D1S1361;D1S1425;D8S2278;D8S2279;GDB:181915;STS-R48186 A34.5;ASE-1;ASE1;CAST;MGC118851;PAF49 CD3 epsilon associated protein;CD3-epsilon-associated protein;CD3E-associated protein;CD3e antigen, epsilon polypeptide associated protein;DNA-directed RNA polymerase I subunit RPA34;RNA polymerase I-associated factor PAF49;antisense to ERCC 1;antisense to ERCC-1 protein protein-coding ENSG00000117877 HGNC:24219 00125 107325 VALIDATED 1347694 CD33 CD33 molecule ENCODES a protein that exhibits carbohydrate binding (inferred); receptor activity (inferred); INVOLVED IN cell adhesion (inferred); cell-cell signaling (inferred); negative regulation of cell proliferation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN external side of plasma membrane; extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; chlorpyrifos; hydrogen peroxide 19 19 19 q13.3 48780420 48795363 + 51728335 51743274 + 51225079 51240019 + 1580863;6480464;8554872 10206955;10556798;10611343;11320212;11774609;11943481;11964282;11970770;12063025;12144127;12477932;15342556;15388576;15454492;15489334;15611322;15676214;16380601;1696442;17662271;18051367;18062779;18085638;18331725;18615103;18767926;18794057;18976728;19259613;19275586;19572148;20147975;20237496;20379614;20713459;21048031;21081841;21278227;21329979;21348573;21460840;21460841;21906983;21988832;21993666;22167654;22382309;23444229;23623698;23708142;23946390;24162737;24618611;24652987;3139766;7505004;7718872;8454872;8702538;9465907 945 B4DF51;P20138;Q546G0 ABBA01068278;AC063977;AJ491319;AK090470;AK293934;AK304810;AK309558;AMYH02036378;AW007749;AY040541;AY162464;BC028152;BP295158;BP303860;CA426969;CA748646;CH471135;JA738577;JA738579;JC231882;KF511276;M23197;NM_001082618;NM_001177608;NM_001772;XM_005259433;XM_005259434 AAA51948;AAH28152;AAK83654;AAO26206;ABM82652;ABM85829;BAC03451;BAG57312;BAG65560;CAD36509;CCF76941;CCF76942;CDM22283;EAW71994;EAW71995;EAW71996;NP_001076087;NP_001171079;NP_001763;P20138;XP_005259490;XP_005259491 Hs.83731 1797364;2146232;5014051;5021872;5037552;5096560 CD33_2604;D1S3202;D8S2278;D8S2279;RH11526;sY3084 FLJ00391;SIGLEC-3;SIGLEC3;gp67;p67 CD33 antigen (gp67);myeloid cell surface antigen CD33;sialic acid binding Ig-like lectin 3;sialic acid-binding Ig-like lectin 3 protein-coding ENSG00000105383 HGNC:1659 01165 159590 VALIDATED 1315723 CD34 CD34 molecule The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells. This single-pass membrane protein is highly glycosylated and phosphorylated by protein kinase C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 1 1 1 q32 181290338 181315139 - 208059883 208084742 - 207886538 207911338 - 1580863;6480464;8554872 10233696;10330415;10337918;10373550;10648383;11389015;11757722;11782553;11798512;11983914;12091359;12161354;12215337;12393582;12393633;12393741;12477932;12588680;12827650;12865405;12883699;12939361;1370171;1374051;14702039;14718574;14744088;15063762;15242879;15246162;15249540;15254762;15277701;15489334;15536192;15569991;15704650;15735742;15752760;15941859;15969628;15996935;16051386;16133360;16133456;16278377;16286998;16305332;16398042;16415795;16439688;16552335;16557578;16698686;16698689;16710414;16830365;1693532;1694174;17038503;17077283;17090657;17095623;17185613;17229904;17253947;17261663;17310847;17429142;17449014;17464107;17474795;17505307;17511030;17656039;17786144;17880611;17885669;17923501;17959862;18025805;18048043;18054528;18061957;18085638;18088553;18092954;18187924;18190781;18218912;18223188;18231114;18292296;18317882;18371060;18402976;18410526;18436865;18511598;18555590;18562079;18604736;18683236;1868864;18698330;18757300;18760838;18798798;18813945;18822690;18842716;18922853;18985821;19043799;19157505;19194276;19226222;19244164;19245435;19323831;19340613;19372622;19383239;19406403;19421145;19437324;19535348;19640275;19644143;19661015;19746588;19746591;19753521;19762535;19817957;19855080;19952356;20028384;20038636;20067819;20175958;20181261;20232575;20353905;20356686;20378847;20379614;20388788;20403242;20431906;20479285;20559119;20601304;20639392;20653822;20675279;20702587;20724541;20819778;20821344;21054781;21078695;21206086;21238532;21276080;21308741;21318598;21330325;21330473;21333372;21364636;21367453;21435112;21440782;21457155;21488087;21527751;21559522;21640411;21651317;21670473;21674250;21700895;21710717;21737787;21762201;21808991;21808992;21835908;21873977;21884210;21933861;22009965;22025365;22084125;22118372;22163120;22199261;22233112;22249946;22372906;22395498;22448926;22499302;22547906;22574784;22581926;22775584;22862965;22952296;22980580;23171577;23233446;23301033;23326517;23327923;23349299;23473998;23509738;23529663;23554290;23583979;23625296;23640491;23645504;23653235;23656194;23696920;23701943;23772632;23794425;23803010;23838926;23995573;24030420;24036614;24281022;24335569;24364465;24466138;24507660;2462139;24664166;24855276;25204042;7525669;7678811;8541536;8547678;8889549;9042286;9108388;9780190;9815891 947 B4DG27;P28906;Q5JTA5 AA022917;AB238231;ABBA01048240;AF202879;AF523361;AF538601;AK091890;AK291529;AK293030;AK294381;AK300835;AL356275;AMYH02002580;BC039146;BX538076;CH471100;CS104354;M81104;M81945;NM_001025109;NM_001773;S53910;S53911 AAA03181;AAA03659;AAB25222;AAB25223;AAF14634;AAH39146;AAM82157;AAN15135;ABM82354;ABM85529;BAE46748;BAF84218;BAF85719;BAG57638;BAG62486;CAD98000;CAJ01226;EAW93458;EAW93459;NP_001020280;NP_001764;P28906 Hs.374990 1722593;1750177;1791440;1791442;1795514;2128275;2178351;2178467 CD34_304;D1S3317;G60378;PMC110554P1;PMC110554P2;RH69685;RH70214;SHGC-112283 CD34 antigen;OTTHUMP00000034733;OTTHUMP00000034734;hematopoietic progenitor cell antigen CD34 APPROVED protein-coding ENSG00000174059 HGNC:1662 00790 142230 REVIEWED 1317072 CD3G CD3g molecule, gamma (CD3-TCR complex) The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008] 11 11 11 q23 115372928 115382366 + 118215032 118224497 + 118344317 118353782 + 1580863;6480464;6484113;6907045;7240710;8699517;8554872 10722370;11048639;11186279;11298321;11827988;12374807;12407027;12410792;12477932;12794121;1385321;1387664;1535555;15459203;15489334;15489916;15638726;15778375;15879122;16094384;16344560;1635567;16777597;16888097;16888650;16916653;17001685;17023417;1709425;17176095;17632570;17652306;17822534;17923503;17928336;18051367;1826255;1832084;18473783;18541215;18808677;18815285;19056690;19536290;19724882;19726522;19759518;1979339;19860678;19898481;20012528;20179761;20237496;20478055;20511557;20594957;20660709;20824090;2111780;2138083;2139676;21669053;21669059;21670311;21764047;21984702;22401598;22482414;22505724;22731821;22911005;23224761;23336327;23348211;23590417;2540970;2547833;2826124;2944745;3112151;3478717;7506554;7517794;7533164;7539755;7774645;8125298;8125527;8145026;8636209;8809126;9045614;9263011;9485181;9510190;9582308;9743208 917 A8MUH3;B0YIY5;J3KNA5;P09693 AB583162;ABBA01039712;AK223314;AK310578;AK310622;AK313966;AK315895;AMYH02025637;AMYH02025638;AP001582;BC069685;BC113830;CH471065;DB116263;DC378393;EF444965;NG_007566;NM_000073;X04145;X06026;XM_005271724;XM_005271725;XM_006718941 AAI13831;ACA05963;BAD97034;BAF98786;BAG36681;BAJ16153;CAA27764;CAA29428;EAW67368;NP_000064;P09693;XP_005271781;XP_005271782;XP_006719004 Hs.2259 1742557;5016851;5037552;5106272;5109281 D11S4362;D1S1425;D8S2279;GDB:197879;RH80031 CD3-GAMMA;FLJ17620;FLJ17664;FLJ79544;FLJ94613;IMD17;MGC138597;T3G CD3g antigen, gamma polypeptide (TiT3 complex);CD3g molecule, epsilon (CD3-TCR complex);OTTHUMP00000234565;T-cell antigen receptor complex, gamma subunit of T3;T-cell receptor T3 gamma chain;T-cell surface glycoprotein CD3 gamma chain APPROVED protein-coding HGNC:1675 07037 186740;615607 REVIEWED 1319442 CD3E CD3e molecule, epsilon (CD3-TCR complex) The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008] 11 11 11 q23 115333175 115344768 + 118175295 118186890 + 118304580 118316175 + 1580863;2314179;6480464;6484113;6907045;7240710;8699517;8554872 16628253 10373416;10722370;11048639;11115514;11186279;11349123;11390434;11439187;11689561;11827988;11855827;12110186;12410792;12477932;12499387;12522270;12567487;12626537;12734335;12812314;1370449;1385321;1387664;14523017;14757743;15123239;15144186;15342556;15489334;15489916;15534202;15546002;15592455;16094384;16308105;16412509;16461343;1671006;16777597;17001685;17023417;17176095;17213291;17507663;17630354;17632570;17652306;17668204;17928336;1832084;18473783;18504423;18541215;18555270;18555888;18667496;18808677;19190244;19616027;19724882;19726522;19759518;1979339;19913121;20012528;20179761;20237496;20478055;20594957;20628086;20824090;2111780;21203507;2138083;21669053;21669059;21980389;22401598;22505724;22911005;23166358;23216707;24470497;24816145;2859526;3012357;3267235;3478717;7499176;7500045;7506554;7514106;7517794;7539755;7541024;7699329;7761456;7774645;8125527;8145026;8176201;8366117;8490660;8530500;8621646;8626450;8809126;8906806;8920877;9045614;9120393;9263011;9312149;9378960;9485181;9510190;9582308;9687533;9698567;9743208;9780176;9886373 916 E9PSH8;P07766 ABBA01039714;AK292612;AK301255;AK311641;AMYH02025637;AP001582;BC049847;BI910359;BP366535;CH471065;M23323;NG_007383;NM_000733;X03884 AAA52295;AAH49847;BAF85301;BAG62822;CAA27516;EAW67360;EAW67361;EAW67362;EAW67363;EAW67364;NP_000724;P07766 Hs.3003 1773556;2185099 D11S4380;RH18074 FLJ18683;IMD18;T3E;TCRE CD3-epsilon;CD3e antigen, epsilon polypeptide (TiT3 complex);OTTHUMP00000234559;OTTHUMP00000234560;T-cell antigen receptor complex, epsilon subunit of T3;T-cell surface antigen T3/Leu-4 epsilon chain;T-cell surface glycoprotein CD3 epsilon chain APPROVED protein-coding ENSG00000198851 HGNC:1674 08923 186830;608971;615615 REVIEWED 1352959 CD40LG CD40 ligand The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008] X X X q26 136094012 136106224 + 135730281 135742549 + 136648177 136660390 + 1599480;2314209;2314214;2314219;2314220;2314212;2314208;2314211;2314188;2314223;5490978;5491182;5490522;5490531;5490973;5508170;5508171;5490970;5491179;5490592;5490598;5490591;5490596;5490529;5490547;4891397;5490594;5490593;5490597;5490305;5024938;5490298;5490548;5491181;5490595;5490306;2313413;2313422;6480464;6484113;6907045;7240710;8547800;8547801;7248426;8547776;8547777;8547751;7248421;7248422;7248722;7248439;8547765;8547781;7248719;7248601;7248714;7248750;7248598;8547782;8547803;7248438;7248420;7248443;7248720;7248430;8547779;8547798;8547820;7248713;7248436;7248437;8547773;7248600;8547767;8547783;7248428;7248710;7248433;8547750;7248599;7248423;7248427;8547770;8547747;8547759;1582628;8554872;8699517 10949194;11134274;11359850;11535630;11751940;11755016;12244161;12388354;12419284;12632425;12969144;13130474;14569091;14573667;14963650;15016184;15102009;15358621;15448088;15458437;15693003;15716285;15780086;15808676;15817881;15972638;16317521;16361570;16423632;16494885;16505242;16508335;16611325;16716410;16752185;17188497;17314326;17531537;17558708;17635572;17823201;17911451;18050371;18756582;18787388;19016771;19019166;19035311;19086656;19784793;19889873;20006362;20170788;20348957;20378141;20400704;20490890;20618701;20659085;20660932;20705757;20726330;21177803;21211656;21240009;21303961;21331754;21411717;21414847;21485068;21543760;21817098;21817131;21841160;21914625;22116092;22645426;22948742;23819214;23984971;7564113;7678782;8875745 10085035;10510350;10647992;11042507;11123305;11270473;11297035;11358428;11493450;11525169;11676606;11714772;11751888;11792121;11801648;11801691;11816717;11817328;11818376;11826760;11865444;11875495;11891278;11902141;11902332;11918631;11922919;11964311;11978801;11981870;11986259;12011072;12042657;12117904;12117990;12140747;12192302;12207328;12209602;12223522;12352896;12379582;12423681;12427285;12460235;12477932;12509450;12563087;12574344;12592374;12605316;12626576;12646674;12672403;12676191;12695287;12697681;12699408;12707303;12718765;12738634;12742991;12764232;1280226;1281209;12874247;12885753;12952351;12955358;12960257;1385114;1427881;14611725;14617752;14623801;14662879;14687897;14734771;14742996;14760083;14764664;14764743;14962968;14976003;14991615;15067037;15069543;15111558;15115688;15128830;15153777;15191945;15249506;15277394;15302794;15307939;15315967;15345520;15489334;15674425;15741223;15753667;15795254;15868137;15872081;16014560;16149136;16182391;16186418;16221206;16311023;16378074;16380494;16393964;16396693;16429138;16464740;16498500;16504636;16545138;16570157;16741250;16777115;16780932;16797372;16888032;16893496;16936191;16963006;16987056;17103120;17106168;17207965;17225862;17237414;17237447;17312171;17319699;17360404;17372166;17392362;17403203;17414714;17433826;17459878;17469136;17562816;17619839;17675236;17703412;17716773;17805323;17845713;17879023;17884785;17893433;17901373;17917707;17918746;17947713;18051214;18054068;18081708;18093816;18156495;18180380;18196935;18217399;18260168;18281372;18339317;18349065;18349125;18373164;18481160;18548529;18554599;18593367;18603231;18641098;18641297;18652769;18658029;18661398;18713981;18714535;18719603;18812691;18827186;18835787;18849075;18945879;18946203;19023113;19056482;19101003;19120902;19170966;19184537;19201484;19221099;19232335;19258923;19272596;19282610;19318922;19404646;19421221;19422822;19449444;19470255;19494299;19520616;19541004;19564823;19575287;19590499;19656553;19675172;19707993;19723899;19735272;19755790;19811271;19859083;19859091;19889024;19895673;19896127;19906505;19913121;19948975;20008286;20026377;20039299;20048211;20071030;20107176;20133813;20153702;20174757;20211016;20230421;20301576;20380698;20456428;20457264;20459687;20471683;20485444;20503287;20505142;20505144;20535218;20577873;20628086;20629665;20634492;20676835;20701912;20734064;20811042;20811715;20832064;20846521;20881665;20978895;20980002;20980629;20981468;21071692;21075431;21138731;21143381;21151195;21162213;21239998;21242519;21285457;21337550;21357544;21406105;21415255;21491121;21567389;21605114;21616491;21696538;21788945;21898485;21967264;22024720;22058328;22100896;22139839;22150414;22151659;22193914;22196954;22219050;22231486;22234746;22295117;22298164;22440854;22461623;22492089;22512415;22532139;22552529;22593611;22608210;22689014;22702645;22731751;22750225;22802415;22820189;22889643;22905203;22932804;22963373;22965071;22984080;23000501;23002440;23039889;23073798;23144702;23241952;23289765;23299818;23325890;23340290;23382671;23426185;23434327;23456134;23457387;23479226;23538518;23555843;23561892;23604864;23686494;23719298;23918987;24014238;24028208;24039784;24106272;24117612;24138005;24188324;24189063;24236294;24375064;24972599;25004625;7516405;7532185;7537298;7541827;7543281;7586644;7678552;7679206;7679801;7688562;7717401;7907793;7999797;8094231;8550833;8589998;8605945;8626375;8889581;8907262;9150729;9468137;9605317;9746782;9873085;9922218 959 P29965;Q3L8U2 ABBA01055928;ABBA01055929;AF529195;AK292637;AL135783;AMYH02040580;AMYH02040581;AY197739;BC071754;BC074950;CH471150;CQ859998;CS398757;CS458154;CS458181;D31797;D50607;DQ119668;EF064753;FN298241;GN344043;HI658768;L07414;NG_007280;NM_000074;X67878;X68550;X96710;Z15017 AAA35662;AAH71754;AAH74950;AAP37943;AAQ09090;AAZ23548;ABK41936;ADQ32018;BAA06599;BAF85326;CAA48077;CAA48554;CAA78737;CAH25976;CAL44882;CAL99223;CAL99228;CAX65629;CAY55957;CBY45341;EAW88462;EAW88463;NP_000065;P29965 Hs.592244 1701736;1702908;1728931;1743497;1743499;1743501;1743503;1743505;1793688;1794948;1796984;2127633;2140476;2159326;5022808;5120490 CD40LG;Camk2g;DXS1256;DXS8200;G10615;GDB:204469;GDB:340965;GDB:340969;GDB:340972;GDB:340979;GDB:340983;GDB:340987;PMC259134P1;PMC86001P3;RH17600;TNFSF5_272 CD154;CD40-L;CD40L;HIGM1;IGM;IMD3;T-BAM;TNFSF5;TRAP;gp39;hCD40L CD40 antigen ligand;OTTHUMP00000024130;OTTHUMP00000024131;T-B cell-activating molecule;T-cell antigen Gp39;TNF-related activation protein;tumor necrosis factor (ligand) superfamily member 5 APPROVED protein-coding ENSG00000102245 HGNC:11935 02311 300386;308230 REVIEWED 619554 CD36 CD36 molecule (thrombospondin receptor) The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014] 7 7 7 q11.2 74932098 75009206 + 80231504 80308593 + 80602188 80679277 + 70461;734720;734721;619666;1625347;1600629;68930;1580863;2307219;2307223;2307208;2307222;2307207;2307217;2307220;2307209;2307211;2307213;2307214;2307218;2300254;2307212;2307215;2307226;6480464;6893560;6893487;6893504;6893508;6893492;6893488;6893490;6893529;6893543;6893528;6893494;6893497;6893500;6893541;6893503;6893559;6893495;6893499;6893506;6893507;6893545;6893496;6893502;6893501;6893505;6893542;5490304;6893544;6484679;6893527;6893557;6893534;6893538;6893498;6893531;6893565;6907045;7240710;8554872;8699517 11175782;11889559;11950861;15221799;15231693;15334463;15737001;16014033;16197457;16563568;16741676;16838191;16911630;16952981;17003426;17127041;17367535;17551591;17572512;18067591;18288886;18305138;18322255;18483551;18587397;18723424;19064796;19117124;19147991;19189074;19264766;19342682;19439069;19606481;19788606;20037584;20056742;20134099;20360550;20435456;20855355;20950462;21195211;21216282;21255096;21412229;21718801;21765106;21803601;22128087;22327076;22470565;22615812;22648712;22718544;2316511;7544802;9040027;9916795 10391209;10487979;10772654;10772928;10772961;10890433;11238109;11377606;11433350;11602321;11668637;11686358;11714819;11718687;11834946;11867619;11872368;12023894;12031598;12105195;12164325;12169456;12224819;12376530;12477932;12479587;12496189;12506336;12516552;12576469;12598312;12606036;12618277;12664607;12679131;12690205;12716760;12716848;12732844;12801610;12947091;12968020;12971464;1384492;14684613;14699114;14702039;14719070;14729862;15048167;15050739;15059642;15064117;15132977;15167446;15242332;15282206;15339698;15342556;15478802;15489334;15671915;15677505;15735450;15780035;15860439;15897321;15915335;15933580;15978955;15979077;16002039;16037098;16099393;16219805;16263699;16276419;16299313;16344560;16453284;16502470;16515687;16556603;16622019;16645727;16670153;16670819;16870193;16880211;16887969;16908526;17067553;17071479;17084382;1715582;17311893;17346709;17380316;17412877;17416590;17440173;17496152;17573918;17581812;17619827;17673938;17710630;17716309;17854769;17888147;17900273;17905828;17924847;18000176;18029348;18035074;18053692;18263877;18285332;18299339;18353783;18441389;18458151;18462250;18497330;18514070;18550349;18558917;18582374;18660489;18671254;18827892;18844973;18981136;19016618;19055786;19065049;19088437;19116451;19136129;19144874;19156623;19175917;19185504;19190027;19203752;19350111;19369259;19403559;19413744;19454037;19489681;19578796;19640849;19667111;19718657;19740737;19864601;19865095;19876004;19893500;19913121;19948975;19996318;20015873;20023206;20075072;20113368;20139232;20157514;20223461;20333725;20408759;20408954;20414830;20416077;20459687;20485444;20628086;20629037;20637247;20660057;20664056;20684828;20701912;20722468;20935172;20939828;20946164;20947105;20966904;20966915;21091228;21145461;21155254;21203512;21228269;21250778;21262584;21270117;21346626;21378271;21383152;21390226;21437286;21454644;21462325;21478428;21547502;21696539;21727988;21808142;21832049;21835916;21854984;21890620;21949655;21988832;22047506;22050542;22075538;22106368;22113854;22240721;22247259;22275803;22423221;22430143;22558273;22588808;22653277;22687273;22763563;22795952;22869067;22890011;22909232;22993001;23119050;23206327;23213279;23233532;23249574;23383108;23427331;23603908;23656756;23726366;23748423;23792019;23817509;23844572;23856131;23862574;24009511;24060386;24062612;24069322;24090054;24120574;24121974;24130805;24134687;24145510;24284794;24366867;24371122;24394674;24412488;24503477;24643644;24675658;2468669;2468670;2473841;24808360;24815572;7503937;7505064;7518447;7521304;7533783;7682812;7686693;7693034;7693552;8467233;8561798;8696942;8798390;9171348;9334230;9555943;9568716 948 A4D1B1;B7Z6C3;E7ERZ9;E7EU05;E7EVU1;E7EWI4;E7EX47;E9PC45;E9PJX8;E9PLT1;H0YEE7;P16671 AA846141;ABBA01058054;ABBA01058055;ABBA01058056;AC073182;AC073850;AC124834;AF300620;AF300621;AF300622;AF300623;AF300624;AF300625;AF300626;AF300627;AF300628;AF300629;AF300630;AF300631;AF300632;AF300633;AF300634;AF300635;AF300636;AF300637;AF300638;AF300639;AF300640;AK057690;AK096858;AK129899;AK300101;AK312920;AL596924;AMYH02016144;AMYH02016145;AY095373;BC008406;BP258762;BP259746;CH236949;CH471091;CR749465;DA566475;DA857400;DC338512;HC025784;HM217020;HM217021;HM217022;HM217023;HM217024;HM217025;HM217026;L06849;L06850;M24795;M98398;M98399;NG_008192;NM_000072;NM_001001547;NM_001001548;NM_001127443;NM_001127444;NM_001289908;NM_001289909;NM_001289911;NR_110501;S60720;S67044;S67532;XM_005250713;XM_005250714;XM_005250715;Z22924;Z32770 AAA16068;AAA35534;AAA58412;AAA58413;AAB28992;AAB46390;AAD13993;AAD14933;AAG60624;AAG60625;AAG60626;AAG60627;AAG60628;AAG60629;AAG60630;AAG60631;AAG60632;AAG60633;AAG60634;AAG60635;AAG60636;AAG60637;AAG60638;AAG60639;AAH08406;AAM14636;ABM83988;ABM87313;ADI80540;ADI80541;ADI80542;ADI80543;ADI80544;ADI80545;ADI80546;BAG35765;BAG53380;BAH13209;CAA80504;CAA83662;CBH19823;EAL24191;EAW76996;EAW76997;EAW76998;EAW76999;EAW77000;EAW77001;EAW77002;EAW77003;EAW77004;EAW77005;NP_000063;NP_001001547;NP_001001548;NP_001120915;NP_001120916;NP_001276837;NP_001276838;NP_001276840;P16671;XP_005250770;XP_005250771;XP_005250772 Hs.120949 1657244;1678015;1684461;1684616;1701608;1726447;1742879;1752515;2136266;2136985;2142754;2149138;2158440;2170412;2176525;2177522;2179521;2182921;5021872;5022578;5109663 CD36;D1S1423;D7S2067E;D7S2791;D7S2891;G62603;GDB:212872;GDB:3755118;RH104443;RH36282;RH48982;RH69590;RH70387;RH93476;RH94289;SHGC-106381;SHGC-58145;STS-T89178;STS-W90039;WI-16804;sY3084 BDPLT10;CHDS7;FAT;GP3B;GP4;GPIIIB;GPIV;PAS IV;PASIV;SCARB3 CD36 antigen (collagen type I receptor, thrombospondin receptor);OTTHUMP00000207872;OTTHUMP00000207874;OTTHUMP00000207879;OTTHUMP00000207881;OTTHUMP00000207938;OTTHUMP00000229733;PAS-4 protein;cluster determinant 36;fatty acid translocase;glycoprotein IIIb;leukocyte differentiation antigen CD36;platelet glycoprotein 4;platelet glycoprotein IV;scavenger receptor class B, member 3 APPROVED protein-coding ENSG00000135218 HGNC:1663 01430 173510;608404;610938;611162 REVIEWED 1349824 CD46P1 CD46 molecule, complement regulatory protein pseudogene 1 1 1 1 q32 181048916 181061150 + 207818429 207830664 + 207645084 207657319 + 1740338 4182 ABBA01048243;AL137789;AMYH02002575;M73721;M73722;M73723;NG_008252 1695780;1770475;2152479 SHGC-53730;SHGC-76279;SHGC-82542 CD46P;MCPL;MCPL1 APPROVED pseudo HGNC:6959 INFERRED 737350 CD47 CD47 molecule This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010] 3 3 3 q13.1-q13.2 106158598 106206555 - 107761941 107809935 - 108043094 108091088 - 1580863;6480464;6907045 10037797;10397731;10429193;10469599;10545994;10549293;11306274;11331301;11454874;11509594;11907074;11980922;12176912;12218055;12351399;12370491;12393442;12393467;12477932;12609828;12646616;12690108;12736272;12902472;1394148;14551146;14702039;14747477;14759258;14966135;15292185;15359629;15383453;15489334;15498560;15700281;15725479;15842360;15880429;15917238;16291597;16581280;16691243;16697668;16951312;17098740;17360380;17363705;17572512;18186923;18332220;18497546;18523271;18524990;18657508;18675774;18855618;18954403;18979398;19144568;19322201;19360900;19628875;19632178;19661269;19748659;19794081;19952055;20033473;20299253;20364320;20675593;20705613;20826801;20923780;21139048;21178137;21203512;21211546;21343308;21906983;22014686;22079249;22215724;22427202;22451913;22505724;22511785;22535707;22641236;22734047;2277087;22815286;22870271;22874555;22990013;23011546;23206327;23275336;23642736;23669395;23690610;23774794;24006483;24143245;24250222;24269920;24523067;24550402;24726056;7691831;7998989;8294396;8550562;8563755;9169439;9872987 961 H0YC40;H7BYS8;Q08722 ABBA01061707;AC012020;AF540016;AI701980;AK096670;AK124152;AK289813;AL832675;AMYH02007394;BC010016;BC012884;BC037306;BC042889;BC045593;BC053959;BI753986;BT006907;BX640889;CB995865;CH471052;NM_001777;NM_198793;X69398;XM_005247908;XM_005247909;XR_241521;XR_241522;Z25521 AAH10016;AAH12884;AAH37306;AAP35553;AAQ11189;ABM81682;ABM82737;ABM84846;BAF82502;CAA49196;CAA80977;EAW79732;EAW79733;EAW79734;NP_001768;NP_942088;Q08722;XP_005247965;XP_005247966 Hs.446414 1646572;1658358;1660149;1689508;1724143;1797368;1847659;2114317;2130574;2132545;2135056;2143414;2143416;2170203;5014051;5037552;5126270 CD47_2027;D3S3910;D3S4195;D3S4214;D8S2278;D8S2279;RH121206;RH78419;RH78668;RH94184;SHGC-12537;SHGC-77177;SHGC-77187;SHGC-77188;SHGC-77192;STS-X69398;STS-Z25521 IAP;MER6;OA3 CD47 antigen (Rh-related antigen, integrin-associated signal transducer);CD47 glycoprotein;OTTHUMP00000041152;OTTHUMP00000041153;Rh-related antigen;antigen identified by monoclonal antibody 1D8;antigenic surface determinant protein OA3;integrin associated protein;integrin-associated protein;integrin-associated signal transducer;leukocyte surface antigen CD47 APPROVED protein-coding ENSG00000196776 HGNC:1682 03017 601028 REVIEWED 1346662 CD46 CD46 molecule, complement regulatory protein The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010] 1 1 1 q32 181155844 181199337 + 207925383 207968861 + 207752038 207795516 + 1580863;2293547;2306066;2306067;2293548;2306065;2293549;2293551;2293550;6480464;6483459;6483463;6483465;6483466;1600479;6483457;6483461;6483458;6483460;6483464;6483467;6907045;7240710;8554872 10637067;10744069;12055630;12183422;12869763;15378282;15726105;16425382;16948860;17214367;17594162;19456309;21177319;21445332;21573156;21852528;22247341;7532466;9358772 10357804;10619434;10657632;10741407;10751138;10843656;10972291;11260136;11714708;11739493;11844145;11858824;11901164;11971006;11983016;12050388;12055245;12082081;12112588;12171934;12477932;12540904;12663806;12724329;12915534;12958316;14566051;14566335;14597734;14615110;14708531;14712499;14962279;14962294;15047806;15078926;15121049;15151618;15307176;15307194;15308701;15336534;15385816;15489334;15592455;15784724;15808690;15845255;15845515;15919905;1601037;16087667;16253969;16254377;16344560;16386793;16621965;16690929;16710414;16735514;16888016;17015676;1711570;17116876;1717583;17261436;17412968;17467801;17560639;17599974;17617869;17715217;17914026;17947513;18287234;18514989;18524830;18573902;18598642;18658028;18677279;18684945;18842294;19198561;19344414;19396169;19423540;19457998;1953714;19597833;19662541;19737905;19784949;19837375;19845582;19861685;19878546;19957088;20018629;20057080;20059470;20106822;20237496;20301541;20406964;20438785;2050389;20513133;20638094;20800630;20843232;20865641;20925204;20972266;21283821;21450813;21545652;21617523;21706448;21840606;21858107;21890473;21906983;21934552;21963094;21987572;22053931;22086389;22153652;22171659;22293503;22357652;22505724;22544928;22594569;22761385;2298462;23000965;23042280;23049856;23086448;23144765;23235567;23251661;23326517;23376460;23391762;23519521;23583979;23731345;23760251;24247905;24297460;24321396;24664706;24978917;2521358;3260937;7534417;7691939;7708671;7884872;7929741;8026516;8125298;8371352;8402913;8418811;8764003;9185079;9379894;9551389;9659228;9661662;9759896 4179 P15529;Q92494;R4GN18 A18585;ABBA01048241;AF209712;AF209713;AF209714;AI589224;AK129560;AK222822;AK291227;AK296819;AL035209;AL365178;AMYH02002576;AU131238;AY916779;BC007046;BC026273;BC030594;BX537451;BX640613;BX649050;CH471100;D84105;DB078198;EF076055;EF076056;EF076057;EF076058;M58050;NG_009296;NM_002389;NM_153826;NM_172350;NM_172351;NM_172352;NM_172353;NM_172359;NM_172361;S51940;S65879;X59405;X59406;X59407;X59408;X59409;X59410;Y00651;Y07713 AAA62833;AAB24802;AAD13968;AAF73844;AAF73845;AAF73846;AAH30594;AAW82433;ABK81635;ABK81636;ABK81637;ABK81638;ABM81827;ABM84980;BAA12224;BAD96542;BAF83916;BAG59392;CAA01400;CAA68675;CAA68985;CAD97694;CAE45719;CAI45983;EAW93463;EAW93464;EAW93465;EAW93466;EAW93467;EAW93468;EAW93469;EAW93470;EAW93471;EAW93472;EAW93473;EAW93474;EAW93475;EAW93476;EAW93477;NP_002380;NP_722548;NP_758860;NP_758861;NP_758862;NP_758863;NP_758869;NP_758871;P15529 Hs.510402 1643954;1655051;1695780;1722271;1770475;1791430;1796314;2119968;2138430;2142635;2152479;2180809;5015869;5120289 D1S2240;D1S3213;D1S3297;G60046;GDB:231980;GDB:313261;MCP_1349;PMC109970P1;RH69587;SHGC-53730;SHGC-76274;SHGC-76279;SHGC-82542;WIAF-2149 AHUS2;MCP;MGC26544;MIC10;TLX;TRA2.10 CD46 antigen, complement regulatory protein;OTTHUMP00000034577;OTTHUMP00000034622;OTTHUMP00000034623;OTTHUMP00000034624;OTTHUMP00000034625;OTTHUMP00000034626;OTTHUMP00000034706;OTTHUMP00000034707;OTTHUMP00000216786;OTTHUMP00000216787;antigen identified by monoclonal antibody TRA-2-10;complement membrane cofactor protein;measles virus receptor;membrane cofactor protein;membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen);trophoblast leucocyte common antigen;trophoblast leukocyte common antigen;trophoblast-lymphocyte cross-reactive antigen APPROVED protein-coding ENSG00000117335 HGNC:6953 00406 120920;612922 REVIEWED 736702 CD5 CD5 molecule ENCODES a protein that exhibits scavenger receptor activity (inferred); INVOLVED IN apoptotic signaling pathway (inferred); receptor-mediated endocytosis (inferred); T cell costimulation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; INTERACTS WITH 17beta-estradiol; benzene; diazinon 11 11 11 q13 58230398 58255502 + 60869930 60895324 + 61102458 61127852 + 1580863;6480464;8554872 10082557;10510361;11123317;11298344;11390434;11751967;11861604;11869933;12393419;12447961;12473675;12477932;12522270;12707340;1385158;14603444;15144186;15187131;15489334;15549146;15843554;15981803;15998834;16107871;16344560;16923582;1711157;17325858;17513730;17585360;17878328;18006695;18339402;18555888;18556402;18572329;18641338;19141631;19573080;19758163;19773279;19901887;20568250;21048031;21123968;21395509;21398617;21436320;21539877;21757751;21786452;21833088;21835435;21892966;21926348;22278227;22333190;22395507;22406370;22732449;22904299;23128233;23376399;24051121;24124149;24390342;24928995;3093892;7512031;7513045;7539755;8806810;9079809;9378960;9603468;9692886;9834084;9862202 921 F5GYK3;P06127 ABBA01003190;ABBA01003191;AK292698;AMYH02024877;AP000437;AY541703;BC027901;CH471076;DB143341;EF064752;KC877421;NM_014207;X04391;X89405 AAH27901;AAS55053;ABK41935;ABM83003;ABM86196;BAF85387;CAA27979;CAA61584;EAW73924;NP_055022;P06127 Hs.58685 1742503;1772695;1853302;1853465;2119946 CD5;D11S4363;GDB:197830;SHGC-58041;STS-X89405 LEU1;T1 CD5 antigen (p56-62);OTTHUMP00000236973;T-cell surface glycoprotein CD5;cd5 antigen;lymphocyte antigen T1/Leu-1 protein-coding ENSG00000110448 HGNC:1685 01078 153340 VALIDATED 1604657 CD40 CD40 molecule, TNF receptor superfamily member 5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been found to be essential in mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 20 20 20 q12-q13.2 41458363 41469842 + 44746899 44758384 + 46118260 46129745 + 4892277;5132271;5132272;5132270;5132273;4144188;5132268;5132274;5132269;5490522;5490530;5490534;5490302;5490303;5490305;5490532;5490975;5490544;5508169;5490974;5490300;5490971;5490590;5508171;5491181;2313422;5490524;5491180;1599479;5490968;5490533;5490972;5490304;5490523;5490541;5490543;5490977;5490301;5490306;6480464;6907045;7240710;8547801;7248435;8547776;8547783;8547765;8547766;7248441;7248442;7248724;7248754;8547759;8547747;7248709;7248749;7248723;8547744;8547746;8547772;8547782;7248438;7248440;7248710;6893375;7248418;8547786;8547788;7248721;7248735;7248753;8547761;8547778;8547780;7248436;7248425;7248429;7248419;7248599;8547767;8547791;8547795;7248755;8547792;8547797;8547750;8547769;8547789;1582628;8554872;8699517 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958 H0YE23;P25942 AB209660;ABBA01052674;AJ300189;AK222896;AL035662;AMYH02037156;AMYH02037157;AY225405;AY504960;BC012419;BC064518;BM761221;BT019901;CH471077;CS095651;CS095653;CS097318;CS097320;CS097717;CS097719;CS103051;CS103053;CS362569;CS362571;CS415595;CS415597;CS415607;CS415609;CS458150;CS458152;CS458177;CS458179;EF064754;FB293281;FB293283;GM980682;GM980684;HB386506;HB386508;HC324854;HC324856;HC728083;HH930542;HH930544;HI594042;HI594044;HI594054;HI594056;HI651118;HI651120;HI921882;HI921884;JA086558;JA086560;JB368781;JB368783;NG_007279;NM_001250;NM_152854;XM_005260617;XM_005260618;XM_005260619;XM_006723889 AAH12419;AAH64518;AAO43990;AAR84238;AAV38704;ABK41937;ABM82730;ABM85914;BAD92897;BAD96616;CAC29424;CAJ00027;CAJ00028;CAJ00033;CAJ00034;CAJ00124;CAJ00125;CAJ00728;CAJ00729;CAL31951;CAL31952;CAL47757;CAL47758;CAL47760;CAL47761;CAL99221;CAL99222;CAL99226;CAL99227;CAQ64629;CAQ64630;CAX20923;CAX20924;CAZ64457;CAZ64458;CBJ55369;CBJ55370;CBL93995;CBX32768;CBX32769;CBX55113;CBX55114;CBX55116;CBX55117;CBX89251;CBX89252;CBY65289;CBY65290;CCA63957;CCA63958;CDH93531;CDH93532;EAW75757;EAW75758;EAW75759;EAW75760;EAW75761;EAW75762;EAW75763;NP_001241;NP_690593;P25942;XP_005260674;XP_005260675;XP_005260676;XP_006723952 Hs.472860 1299905;1688578;1793690;1794836;1794838;1794840;1794842;1794844;1794846;1794848;1794850;1794852;1794854;2129364;5017977 CD40_s5;D19S247;PMC259134P3;PMC60102P1;PMC60102P10;PMC60102P11;PMC60102P2;PMC60102P3;PMC60102P4;PMC60102P5;PMC60102P6;PMC60102P7;PMC60102P9;RH93708;STS-R49884 Bp50;CDW40;MGC9013;TNFRSF5;p50 B cell surface antigen CD40;B cell-associated molecule;B-cell surface antigen CD40;CD40 antigen (TNF receptor superfamily member 5);CD40 type II isoform;CD40L receptor;OTTHUMP00000031699;OTTHUMP00000031700;OTTHUMP00000031701;nerve growth factor receptor-related B-lymphocyte activation molecule;tumor necrosis factor receptor superfamily member 5;tumor necrosis factor receptor superfamily, member 5 APPROVED protein-coding ENSG00000101017 HGNC:11919 00178 109535;606843 REVIEWED 735603 CD4 CD4 molecule This gene encodes a membrane glycoprotein of T lymphocytes that interacts with major histocompatibility complex class II antigenes and is also a receptor for the human immunodeficiency virus. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, and granulocytes. It is also expressed in specific regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. 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920 B0AZV7;B4DT49;F5GYA9;F5H480;P01730 ABBA01017655;ABBA01017656;ABBA01017657;ABBA01017658;ABBA01017659;AC125494;AK300052;AK303968;AK308344;AK310652;AK310677;AK310687;AK310750;AK311495;AK312828;AK315898;AK316461;AK316462;AMYH02025955;BC025782;BT019791;BT019811;BX378810;CA305950;CH471116;DA384217;DA463597;DA619688;DA639898;DB123455;DQ012936;KC877511;KC877512;M12807;M35160;NG_027688;NM_000616;NM_001195014;NM_001195015;NM_001195016;NM_001195017;S79267;U40625;U47924;X87579 AAA16069;AAA35572;AAB02789;AAB35273;AAB51309;AAH25782;AAV38594;AAV38614;AAY22175;ABM82978;ABM86172;BAF98789;BAG35684;BAG61861;BAG64892;BAH14832;BAH14833;CAA60883;EAW88738;EAW88739;NP_000607;NP_001181943;NP_001181944;NP_001181945;NP_001181946;P01730 Hs.631659 1334972;1741339;1742287;1742863;1743991;1766911;1792606;1795520;2125009;2176194;5016478;5020274;5022200;5022578;5022651;5109281;5117863;5117865 A007D38;CD4_1639;D11S2921;D12S1623;D1S1423;D1S1425;GDB:180736;GDB:195161;GDB:212646;GDB:384737;GDB:434012;GDB:625824;GDB:625827;L18426;L18441;PMC155019P1;SHGC-12737;SHGC-152382 CD4mut CD4 antigen (p55);CD4 receptor;OTTHUMP00000238897;T-cell surface antigen T4/Leu-3;T-cell surface glycoprotein CD4;cd4 antigen APPROVED protein-coding ENSG00000010610 HGNC:1678 01740 186940;613949 REVIEWED 1351887 CD57 CD57 antigen 964 HGNC:1687 1352782 CD48 CD48 molecule This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 1 q21.3-q22 133717253 133750314 - 160648536 160681641 - 160678746 160711851 - 1580863;6480464;8554872 10359122;11163399;11313125;11313396;11513145;12007789;12072193;12356317;12477932;12496412;15356144;15489334;15760905;16049493;16081768;16169070;16585556;16710414;16785501;16803907;16866884;1693656;17222190;17599905;1827826;18296487;1847502;18617371;19494291;19913121;19946888;1999350;1999351;20164429;20237496;20453000;20628086;20833258;22495247;23128233;23225218;24670806;2828034;8104794;8125298;8650218;9418191;9834056 962 P09326 ABBA01016611;ABBA01016612;AK225636;AK310624;AK310744;AL121985;AMYH02002026;BC016182;BC030224;BG505217;BT019813;CH471121;CR457012;KF455057;M37766;M59904;M63911;NM_001256030;NM_001778;X06341;XM_005245625;XM_006711640 AAA35602;AAA36211;AAA62834;AAH16182;AAH30224;AAV38616;ABM87315;ABW03873;CAA29647;CAG33293;EAW52705;NP_001242959;NP_001769;P09326;XP_005245682;XP_006711703 Hs.243564 1846795;2106977;2130891 CD48_3159.2;D1S2413;RH45550 BCM1;BLAST;BLAST1;MEM-102;SLAMF2;TCT.1;hCD48;mCD48 B-lymphocyte activation marker BLAST-1;BCM1 surface antigen;CD48 antigen;CD48 antigen (B-cell membrane protein);OTTHUMP00000025680;SLAM family member 2;leukocyte antigen MEM-102;signaling lymphocytic activation molecule 2 APPROVED protein-coding ENSG00000117091 HGNC:1683 00177 109530 REVIEWED 1348187 CD52 CD52 molecule INVOLVED IN positive regulation of cytosolic calcium ion concentration; FOUND IN anchored component of membrane (inferred); integral component of plasma membrane (inferred); membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 5-fluorouracil; all-trans-retinoic acid 1 1 1 p36 25040730 25043334 + 26644411 26647014 + 26317920 26320523 + 6480464 10524207;10561018;11257744;11860230;12113063;12477932;1352921;14662784;15489334;16266689;16796779;16797237;17118455;1711975;17145843;17428002;17624925;18647288;19794084;20349607;21552305;22386526;22491736;7685389;7688956;7718516;7890742;8223854;8366859;8418812;8418821;8977262;9361796 1043 P31358;Q9UJ81;V9HWN9 A23013;ABBA01034904;AJ132359;AL451139;AMYH02000562;BC000644;BI835519;BT007116;CH471059;CR456874;FJ460513;NG_028986;NM_001803;X62466;X67699 AAH00644;AAP35780;ABM84634;ACS44650;CAA01644;CAA44323;CAA47929;CAB51285;CAG33155;EAX07822;NP_001794;P31358 Hs.276770 1725835;2146598;2166055 D1S3354;G62004;RH70873 CDW52;HEL-S-171mP;he5 CAMPATH-1 antigen;CD52 antigen (CAMPATH-1 antigen);CDW52 antigen (CAMPATH-1 antigen);OTTHUMP00000003570;cambridge pathology 1 antigen;epididymal secretory protein E5;epididymis secretory sperm binding protein Li 171mP;human epididymis-specific protein 5 protein-coding ENSG00000169442 HGNC:1804 00257 114280 VALIDATED 737499 CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and preventing damage to host cells. Antigens present on this protein constitute the Cromer blood group system (CROM). Alternative splicing results in multiple transcript variants. The predominant transcript variant encodes a membrane-bound protein, but alternatively spliced transcripts may produce soluble proteins. [provided by RefSeq, Jul 2014] 1 1 1 q32 180747405 180786905 + 207494817 207534311 + 207321472 207360966 + 1580863;2326181;2326170;2326179;2326180;2326167;2326173;2326175;2326168;2293549;2326166;6480464;6907045 10850450;10929073;11506079;12427125;15102687;16533428;18288643;18676748;20403613;9358772 10540231;11313396;11694537;11745332;11832343;11983016;12117960;12119400;12153048;12186929;12386146;12393518;12417565;12445304;12477932;12499389;12645951;12654791;12659837;12664211;12672958;12675719;12731067;12811528;12880676;12920584;12950987;1376264;1377029;1385527;14517339;14530374;14722298;14734808;14962294;14993659;15007304;15007307;15102803;15151618;15284224;15327779;15350460;15351205;15356143;15385816;15489334;15536079;15596863;15710649;15721309;15808680;15808683;15808686;15808692;15831949;15907827;15919505;16079188;16179371;16273233;16367924;16503113;16543227;16563273;16602701;16626483;16647457;16818763;16908271;16951684;16980062;1711208;1712233;17167176;17182573;1720702;17368771;17395591;1740338;17449467;17804498;17893077;18158579;18165780;1824699;18305044;18374870;18443552;18524812;18579524;18842294;18954403;18997004;19199708;19341386;19344414;19364072;19423540;19424617;19662541;19675582;19681921;19710132;19729796;19781296;19878546;20221634;20237496;20339853;20406964;20438785;20452482;20638094;20673868;20689133;20692039;20727121;20727519;21380985;21420451;21518786;21545652;21727667;21802665;21963094;22206234;22293503;22391577;22445689;22547928;22553215;22574734;22590509;22693232;22761385;22830021;22939629;22961402;23006730;23042280;23049856;23152895;23176121;23376460;23390291;23402020;23427180;23658447;23692281;24086391;24198281;2428813;2433596;2436222;2438369;2459267;24599886;24763553;24973443;24978917;6211481;7512501;7517044;7519480;7525274;7535292;7538177;7545711;7673728;7678074;7687624;8223854;8619474;8764022;8837357;8887350;9010927;9064337;9110174;9151867;9238658;9427725;9435343;9541601 1604 B1AP13;B1AP15;H3BLV0;H7BY55;P08174 AB003312;AB240566;AB240567;AB240568;AB240569;AB240570;ABBA01048247;AF052110;AK298549;AK300621;AK312448;AL391597;AL596218;AMYH02002560;AMYH02002561;AW316643;AY055757;AY055758;AY055759;AY055760;AY851161;BC001288;BI545505;BT007159;CA432400;CA748776;CH471100;DC386415;HI573864;M15799;M30142;M31516;M64653;NG_007465;NM_000574;NM_001114752;NM_001300902;NM_001300903;NM_001300904;NR_125349;S72858;U88576;XM_005273077 AAA52167;AAA52168;AAA52169;AAA52170;AAB48622;AAC60633;AAH01288;AAL25832;AAL25833;AAL25834;AAL25835;AAP35823;AAW29942;ABM81702;ABM84861;BAA22900;BAE97422;BAE97423;BAE97424;BAE97425;BAE97426;BAG35355;BAG60746;BAG62314;CBX47421;EAW93485;EAW93486;EAW93487;EAW93488;EAW93489;EAW93490;EAW93491;EAW93492;EAW93493;EAW93494;EAW93495;EAW93496;EAW93497;EAW93498;EAW93499;NP_000565;NP_001108224;NP_001287831;NP_001287832;NP_001287833;P08174;XP_005273134 Hs.126517;Hs.609950 1658900;1662556;1673231;1701254;1769851;1774916;1795674;1853964;2124252;2131657 D12S1886;DAF_16;RH104255;RH67915;SHGC-36215;SHGC-64092;SHGC-76268;SHGC-76273;SHGC-76278;WI-20337 CR;CROM;DAF;TC CD55 antigen;OTTHUMP00000034398;OTTHUMP00000034399;OTTHUMP00000034400;OTTHUMP00000034420;OTTHUMP00000228537;OTTHUMP00000228538;complement decay-accelerating factor;decay accelerating factor for complement APPROVED protein-coding ENSG00000196352 HGNC:2665 00500 125240;613793 REVIEWED 1318347 CD5L CD5 molecule-like ENCODES a protein that exhibits scavenger receptor activity (inferred); INVOLVED IN apoptotic process (inferred); cellular defense response (inferred); receptor-mediated endocytosis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN blood microparticle; extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; 1-chloro-2,4-dinitrobenzene (ortholog); 17alpha-ethynylestradiol (ortholog) 1 1 1 q21-q23 130871890 130882819 - 157796861 157811634 - 157827071 157841844 - 1580863;6480464;8554872 11981870;12477932;12975309;14718574;15340161;15489334;16030018;16344560;16710414;18051367;18660489;19116453;19155514;19204726;20237496;20379614;21970839;23236605;24223991;24295828;8034987;9045627 922 O43866 ABBA01016636;AF011429;AF147312;AK292040;AL139409;AMYH02001997;AY358494;BC033586;CH471121;CS538845;CS615452;DA957550;NM_005894;U82812;XM_005245602 AAB91989;AAD01446;AAH33586;AAQ88858;ABM84541;ABM86224;BAF84729;CAM90872;CAO02287;EAW52859;NP_005885;O43866;XP_005245659 Hs.134035 1672113;1729218;1778017;1857334;2166566 D1S176;D1S3339;D1S3558;RH12832;SHGC-58141 AIM;API6;CT-2;PRO229;SP-ALPHA;Spalpha CD5 antigen-like;CD5 antigen-like (scavenger receptor cysteine rich family);OTTHUMP00000024057;apoptosis inhibitor 6;igM-associated peptide protein-coding ENSG00000073754 HGNC:1690 03997 602592 VALIDATED 737036 CD44 CD44 molecule (Indian blood group) The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008] 11 11 11 p13 35307730 35401272 + 35160417 35253949 + 35138870 35232402 + 2289349;2289353;2289371;2289388;2289345;2289347;2289350;2289351;2289352;2289356;2289357;2289358;2289361;2289362;2289364;2289369;2289372;2289373;2289346;2289354;2289359;2289360;2289363;2289370;2296043;2296044;4145437;6480464;6907045;8554872 10022688;11245336;12131349;12750406;12833185;14658589;15762960;16124061;16308159;16321281;16425351;16612977;16786159;16804311;16837837;16850024;16891795;16998464;17059779;17284111;17464868;17991717;18026989;18064740;18091389;18196276;8639178 10636882;10652271;10657301;10737800;10933060;10950950;11084024;11095749;11129651;11207560;11381077;11402070;11463356;11466334;11606575;11716065;11727257;11740562;11759056;11792412;11825873;11825898;11839564;11840273;11935029;11944887;12032545;12090473;12093135;12127836;12145196;12145287;12168806;12183053;12198147;12223485;12226094;12235127;12297287;12356905;12370738;12371152;12377945;12392323;12393872;12407110;12411303;12421945;12439723;12444143;12452061;12477932;12479099;12485845;12506143;12508241;12511569;12511867;12574156;12629514;12635659;12650924;12702150;12711360;12714503;12727228;12730955;12748184;12767055;12779084;12801931;1281868;12820426;12826680;12842543;12883358;12893366;12901833;12908752;12909589;12911725;12928429;12939665;12949055;14504094;14525786;14534711;14534719;14614016;14623895;14644158;1465456;14669354;14702039;1496383;14981907;14992719;15009704;15013310;15017146;15023889;15040016;15048167;15051494;15060082;15070674;15100360;15123640;15239258;15292257;15313120;15361838;1537855;15452148;15489334;15509527;15516973;15531362;15558018;15578568;15638368;15638386;15641486;15645378;15652352;15655247;15688033;15728517;15736104;15783086;15809746;15816636;15851553;15867228;15923644;15943035;15962382;15990174;16002044;16085055;16166750;16177123;16208414;16219515;16229685;16234326;16248506;16311123;16325770;16335952;16352650;16354706;16390331;16407205;16415175;16419149;16478744;16494036;16504370;16530165;16533775;16554035;16565089;16565092;16620830;16636662;16652145;16702221;16713680;16809345;16809613;16848180;16868940;1694723;16969488;16998483;16998484;17045821;17081983;17085435;17092940;17135256;17136494;17170110;1717145;17237445;17265493;1730778;17324121;17332338;17343740;1734871;17381240;17383158;17392272;17479111;17482182;17516109;17540049;17579117;17581168;17589956;17599831;17611661;17611662;17627000;17638891;17657222;17679465;17702746;17708612;17726647;17846873;17849363;17891137;17911438;17914409;17919613;17940137;17945212;17945213;17975002;17987038;18005092;18029348;18048043;18077444;18092951;18094716;18155656;18160820;18162778;18193058;18199543;18214619;18227732;18234849;18246799;18265895;18276068;18279620;18326820;18350162;18372518;18375392;18387829;18396641;1840487;18414895;18415803;18438684;18441325;18450428;18450824;18476625;18476632;18495204;18502033;18502153;18513329;18516325;18559090;18577517;18608209;18612220;18614011;18632604;18644869;18651220;18654930;18662989;18753140;18757307;18787423;18804101;18804988;18835619;18852874;18952835;18971959;18980968;18981124;18997126;19004834;19009655;19010227;19017033;19017937;19023892;19047049;19073595;19077409;19088176;19097357;19100415;19141242;19148550;19167378;19176383;19199708;19200980;1922057;19243022;19254252;19275586;19277703;19322201;19331807;19350388;19351367;19360323;19385591;19396460;19415765;19416960;19432801;19434087;19488035;19506034;19563418;19577615;19580891;19582779;19598259;19621595;19626493;19633292;19635906;19638429;19698232;19703720;19724852;19764564;19773544;19787202;19787231;19794081;19794958;19794964;19799609;19816074;19826051;19857547;19906290;19912362;19913121;19914206;1991450;19937401;19952968;19955840;19965872;19996285;20019840;20042890;2007624;20083228;20093404;20093489;20098615;20121756;20127679;20142144;20157733;20178130;20193563;20199686;20200161;20211062;20212041;20228222;20237496;20306693;20357818;20361869;20374021;20382854;20403620;20405247;20416163;20454640;20491779;20525896;20526812;20530438;20552237;20562647;2056274;20588206;20605145;20606680;20606732;20628086;20628624;20663864;20663884;20670691;20696077;20698358;20799279;20806065;20809185;20819778;20837694;20843027;20851866;20856229;20920234;20956971;20962267;20969572;20971508;20974992;21055388;21078678;21087933;21098716;21105049;21124918;21136024;21139048;21151997;21179550;21194677;21215700;21254647;21257828;21257905;21258793;21278261;21279958;21294926;21299347;21331451;21356346;21374592;21376257;21393860;21397861;21411116;21424816;21454519;21471214;21471434;21473743;21482826;21489997;21493336;21546273;21570715;21617876;21618131;21618132;21630198;21632186;21633165;21645921;21649540;21668410;21678082;21680714;21685938;21694464;21701559;21708929;21718681;21731740;21743962;21749678;21764578;21768115;21768350;21802218;21804359;21813394;21819617;21824412;21827751;21829201;21830016;21833756;21835433;21849440;21895545;21898409;21906983;21912471;21933023;21935375;21935404;21953074;21957977;21963094;21987572;21993315;22014860;22021370;22024057;22048598;22068886;22069487;22072421;22076958;22119814;22119938;22125838;22130902;22135720;22152097;22205660;22213301;22216242;22218639;22234250;22237177;22242150;22266115;22270319;22271686;22272243;22278305;22293754;22304920;22307465;22321833;22322379;22335271;22363471;22386367;22389315;22429811;22433859;22437554;22449225;22456539;22473523;22491449;22493711;22499789;22514625;22525501;22552294;22552741;22559040;22561518;22610405;22610780;22621373;22637644;22654106;22673507;22673910;22706704;22711991;22726066;22733437;22740085;22740326;22753277;22770970;22784357;22804494;22807608;22836803;22839505;22842095;22843930;22847005;22855175;22863883;22865879;22870202;22895075;22901285;22922740;22923071;22923171;22932199;22939629;22947857;22966907;22967445;22969228;22972620;23000965;23002207;23028444;23031255;23039365;23049743;23056168;23071680;23089492;23098472;23112116;23118219;23138176;23143465;23151220;23160198;23170789;23171677;23182705;23220849;23221384;23226410;23238743;23251004;23252868;23263849;23265944;23273568;23283480;23314380;23326564;23333304;23334333;23342032;23373240;23400010;23404221;23419168;23422486;23426175;23435135;23444222;23445749;23449937;23457460;23463035;23476138;23536680;23547049;23549458;23553902;23565227;23589287;23589310;23600676;23603511;23609373;23633482;23645762;23653392;23664487;23665041;23667174;23679813;23685894;23736812;23744486;23764310;23768762;23778530;23797812;23800986;23835592;23837451;23848514;23856463;23874603;23883608;23884413;23888049;23889297;23900701;23940692;23964856;24004467;24005673;24009708;24010665;24019861;24019906;24064218;24069351;24084461;24091662;24099991;24122205;24132924;24156023;24167614;24173428;24186075;24194636;24276281;24300972;24318997;24324260;24324613;24333422;24366074;24397969;24403253;24410905;24429392;24434386;24434427;24455718;2454887;24606718;24618343;24647926;24654937;2466575;2466576;2471973;24726313;24739387;24739401;2474557;24860093;24912773;25015289;7499241;7505012;7508842;7516819;7529574;7532176;7539755;7542116;7557500;7591309;7699015;7821789;7908632;8148709;8343954;8352881;8576267;8599448;8636151;8640758;8649806;8858161;8871928;8986622;9058761;9334256;9472040;9519902;9573028;9580567;9794764 960 E9PKC6;H0Y2P0;H0Y5E4;H0YCL4;H0YCV9;H0YD13;H0YD17;H0YD90;H0YDV8;H0YDW7;H0YDX6;H0YE40;H0YEA1;H0YES0;H0YEU1;H0YEV3;H0YF08;J3KN83;P16070;Q86UZ1 AB073901;ABBA01060862;AF086543;AF098641;AJ251595;AK123567;AK127622;AK129808;AK290424;AK297776;AK304467;AK307707;AL133330;AL136989;AL356215;AL832642;AMYH02024591;AMYH02024592;AY101192;AY101193;BC004372;BC052287;BC067348;BF828674;BF872530;BG946113;CD721908;CH471064;D28447;EF581837;FJ216964;HI519530;JC231860;L05423;L05424;M24915;M25078;M59040;M83324;M83325;M83326;M83327;M83328;NG_008937;NM_000610;NM_001001389;NM_001001390;NM_001001391;NM_001001392;NM_001202555;NM_001202556;NM_001202557;S66400;S72928;S82326;U40373;W47313;X55150;X55938;X56794;X62739;X66733;XM_005253231;XM_005253232;XM_005253233;XM_005253234;XM_005253235;XM_005253238;XM_005253239;XM_005253240;XM_006718388;XM_006718389;XM_006718390 AAA35674;AAA36138;AAA51950;AAA82949;AAB13622;AAB13623;AAB13624;AAB13625;AAB13626;AAB13627;AAB13628;AAB27917;AAB27918;AAB27919;AAB30429;AAC70782;AAD14389;AAH04372;AAH52287;AAH67348;AAM50040;AAM50041;ABQ59315;ACI46596;BAA05813;BAF83113;BAG60121;BAG65282;CAA38951;CAA39404;CAA40133;CAA44602;CAA47271;CAB61878;CAD89965;CBX54346;CDM22272;EAW68144;EAW68145;EAW68146;EAW68147;EAW68148;EAW68149;EAW68150;EAW68151;EAW68152;EAW68153;EAW68154;EAW68155;NP_000601;NP_001001389;NP_001001390;NP_001001391;NP_001001392;NP_001189484;NP_001189485;NP_001189486;P16070;XP_005253288;XP_005253289;XP_005253290;XP_005253291;XP_005253292;XP_005253295;XP_005253296;XP_005253297;XP_006718451;XP_006718452;XP_006718453 Hs.502328 1648522;1666080;1670636;1693592;1699158;1725823;1727053;1737265;1741833;1770236;1791460;1793888;1795518;1851396;1856308;2116565;2131340;2143219;2150914;2185524;5014051;5037552;5120105 AFM283wh9;CD44;CD44_1447;D11S3129;D11S4430;D11S4589;D8S2278;D8S2279;G15910;G62000;G62926;GDB:185470;GDB:196637;PMC111028P1;PMC303366P9;RH103158;RH35975;RH36176;RH68898;RH69895;SHGC-58498;STS-H03494;STS-N23307 CDW44;CSPG8;ECMR-III;HCELL;HUTCH-I;IN;LHR;MC56;MDU2;MDU3;MGC10468;MIC4;MUTCH-I;Pgp1 CD44 antigen;GP90 lymphocyte homing/adhesion receptor;Hermes antigen;OTTHUMP00000041555;OTTHUMP00000041556;OTTHUMP00000041557;OTTHUMP00000041558;OTTHUMP00000041559;OTTHUMP00000232487;OTTHUMP00000232488;OTTHUMP00000232489;OTTHUMP00000232491;OTTHUMP00000232492;OTTHUMP00000232493;OTTHUMP00000232494;OTTHUMP00000232495;OTTHUMP00000232522;cell surface glycoprotein CD44;chondroitin sulfate proteoglycan 8;epican;extracellular matrix receptor III;hematopoietic cell E- and L-selectin ligand;heparan sulfate proteoglycan;homing function and Indian blood group system;hyaluronate receptor;phagocytic glycoprotein 1 APPROVED protein-coding ENSG00000026508 HGNC:1681 00115 107269;609027 REVIEWED 737207 CD53 CD53 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 1 1 1 p13 109660823 109689572 + 111413821 111442558 + 110871199 110899936 + 1580863;6480464 10229664;10529602;11157846;11325968;11443129;11739647;11959120;12392323;12477932;12606948;12631118;12725440;1346273;15489334;16506060;16710414;1700763;17210617;1879540;19913121;20237496;20407468;20628086;21993531;2258620;23251661;23313165;7539755;7621882;7963560;8307585;8319976;8335905;8404042;8436422;8757325;8816400;9470900;9862348 963 B4DQB5;P19397 ABBA01068394;AJ243474;AK298723;AK313582;AL354713;AL391064;AMYH02001726;BC035456;BC040693;BG536920;BT019643;CA453414;CH471122;L11670;L11671;M37033;M60871;NM_000560;NM_001040033;XM_006711053 AAA35663;AAA51951;AAH40693;AAV38449;BAG36352;BAG60877;EAW56459;NP_000551;NP_001035122;P19397;XP_006711116 Hs.443057 1339872;1688158;1697060;1768648;1771264;2108717;2174468;5119478 CD53_92.2;D1S2090;D1S2809;D1S3453;RH102009;RH67893;RH69138;SHGC-12404 MOX44;TSPAN25 CD53 antigen;CD53 glycoprotein;CD53 tetraspan antigen;OTTHUMP00000013686;antigen MOX44 identified by monoclonal antibody MRC-OX44;cell surface antigen;cell surface glycoprotein CD53;leukocyte surface antigen CD53;tetraspanin-25;transmembrane glycoprotein;tspan-25 APPROVED protein-coding ENSG00000143119 HGNC:1686 01054 151525 REVIEWED 1343400 CD58 CD58 molecule This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a ligand of the T lymphocyte CD2 protein, and functions in adhesion and activation of T lymphocytes. The protein is localized to the plasma membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] 1 1 1 p13 115285654 115342230 - 117057156 117113715 - 116514534 116571093 - 1580863;6480464 10099837;10200255;10220497;10380930;11051456;11575926;12477932;12496412;12553064;12798307;12853962;1377404;15093607;15345303;15963548;16169070;16602701;16830383;17085486;17168569;17344209;1757107;18650830;18820826;19109405;19110536;19237575;19268704;19375175;19497873;19506219;19525953;19525955;19834503;19865102;19879194;19898481;19946888;20237496;20301492;20368992;20450971;20570633;20806065;21244703;21362770;21726122;21832049;21833088;21982860;22137796;22190364;24655566;3309127;3313052;7515920;7544493;7545392;7589092;8889548;9350325;9510189;9574540 965 B1AMW1;H0YDI1;P19256 ABBA01068487;ABBA01068488;ABBA01068489;AK125710;AK291980;AL355794;AL390066;AMYH02001792;AMYH02001793;BC005930;BT019816;BT019817;CA312671;CD365881;CH471122;CR456939;CS278854;D28586;HH979247;JC231862;NM_001144822;NM_001779;NR_026665;S79616;X06296;Y00636;Y14780 AAB40000;AAH05930;AAV38619;AAV38620;BAA05922;BAF84669;CAA29622;CAA68668;CAA75083;CAA75084;CAG33220;CAJ86521;CBX51827;CDM22273;EAW56652;EAW56653;EAW56654;EAW56655;EAW56656;NP_001138294;NP_001770;P19256 Hs.34341 1649214;1677879;1692004;1752733;1754575;1791772;2115943;2155680;2161156;5119480 AL010069;AL033745;D1S3262;D1S3454;PMC124986P3;RH78061;SHGC-106572;SHGC-132861;SHGC-53613;SHGC-75374 FLJ23181;FLJ43722;LFA-3;LFA3;ag3 CD58 antigen, (lymphocyte function-associated antigen 3);OTTHUMP00000024363;OTTHUMP00000024364;OTTHUMP00000231922;OTTHUMP00000231923;lymphocyte function-associated antigen 3;surface glycoprotein LFA-3 APPROVED protein-coding ENSG00000116815 HGNC:1688 01081 153420 REVIEWED 1351600 CD6 CD6 molecule This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 11 11 11 q13 58099987 58148914 + 60739113 60787849 + 60971641 61020377 + 1580863;6480464 10899308;12473675;12477932;12493773;16034076;16344560;16818742;16818773;16914752;17371992;17601777;18707547;1919444;19525953;19865102;19879194;2016320;20237496;20301492;20430450;20726988;20810246;21145461;21178331;21244703;21552549;21833088;21849685;21956609;21988832;22685579;22994200;23128233;23638056;23711376;24130718;24890719;3923629;7543097;7589069;7678115;9013954;9394826;9436462 923 E7ER04;F5H835;F6UFK6;G5E973;H0YGL3;P30203;Q6AZ88;Q8N4Q7 ABBA01021518;ABBA01021519;AI657093;AK126159;AK128419;AK292704;AK312749;AMYH02024877;AP003721;BC033755;BC078669;CH471076;DB147406;DB155411;DQ786329;DQ786330;KF455397;L78838;NM_001254750;NM_001254751;NM_006725;NR_045638;U34623;U34625;U66142;U66143;U66144;U66145;U66146;X60992;XM_006718738;XM_006718739;XM_006718740;XM_006718741 AAA86417;AAA86419;AAC51161;AAC51162;AAC51163;AAC51164;AAC51165;AAH33755;AAH78669;AAL40085;AAL40086;AAL40087;AAL40088;AAL40089;ABH04237;ABH04238;BAF85393;CAA43306;EAW73917;EAW73918;EAW73919;EAW73920;EAW73921;EAW73922;EAW73923;NP_001241679;NP_001241680;NP_006716;P30203;XP_006718801;XP_006718802;XP_006718803;XP_006718804 Hs.744366 1335673;1659414;1682391;2150814 D11S1765;RH70609;RH79917;STS-X60992 FLJ44171;T12;TP120 CD6 antigen;OTTHUMP00000236965;OTTHUMP00000236967;OTTHUMP00000236969;OTTHUMP00000236970;OTTHUMP00000236971;T-cell differentiation antigen CD6 APPROVED protein-coding ENSG00000013725 HGNC:1691 01724 186720 VALIDATED 736600 CD59 CD59 molecule, complement regulatory protein This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p13 33872059 33905528 - 33724556 33758025 - 33703010 33736479 - 1600478;1600479;1600482;1600483;1600485;1600486;1600487;1600493;1600494;1600495;1580863;1600500;2326189;2293548;2306066;2326192;6480464;6907045;7240710;8554872;8699517 10450801;10530491;10637067;12453906;12483994;12898600;12909127;14519760;15726105;15843577;16425382;16751365;19254481;7523753;9846834 10341291;10708443;10786997;10805801;11095009;11477359;12219031;12477932;12553064;12577067;12645951;12646570;12880676;1372592;1376264;1377404;1377690;1381503;1382994;1383132;1383553;14517339;14635045;14702039;14962294;15147772;15151618;15231748;15351205;15389819;15448097;15489334;15543155;15766396;15907827;16032396;16179371;16274631;16341674;16344560;16493049;16502470;16563273;16602701;16844690;16859540;1689664;16908271;1692709;1699124;1702747;17110338;17412968;17500595;17505110;17585877;17635812;17644516;17671359;18158579;18362151;18443552;18445344;18487376;18842294;18954403;19056867;19116988;19131645;19168743;19190083;19200600;19254252;19297024;19344414;19369333;19380765;19424617;19622297;19662541;19686460;19737458;19781296;19804910;19955519;20212283;20237496;20638094;20689133;20727519;20961375;21129240;21252115;21507937;21545652;21720565;21727667;21802665;21813604;21932413;21963094;22000275;22293503;22480874;22701098;23006730;2302178;23049856;23149847;23376460;23398456;23536680;23665225;23670858;23746236;23757192;23835643;24084445;24086391;24167638;24200054;24250222;24338025;24628556;24664706;2475111;2475570;2476718;24909278;24978917;2606909;7505007;7512825;7515200;7520819;7523406;7530684;7539755;7544344;7553895;7673728;7683594;7686996;7691713;8276756;8526992;8650218;8670172;8789559;8798614;8876826;8887350;8889548;8969267;8995588;9053451;9054419;9235986;9238658;9263011;9358772;9444417;9724629 966 E9PI80;E9PNW4;E9PR17;H0YET2;P13987;Q6FHM9 ABBA01060881;ABBA01060882;ABBA01060883;AI147924;AK128571;AK309894;AK311778;AL037045;AL049629;AL049957;AL080087;AL703204;AMYH02024574;AU136899;AU139009;AU139541;AW166662;BC001506;BC033226;BE899630;BG284181;BI752924;BM457931;BM551313;BM680161;BM724931;BM829941;BM911556;BQ230563;BQ440441;BT007104;BU154979;BX475103;CF529941;CH471064;CR407661;CR541722;DA250543;DA578905;DA840870;DA917093;KF455356;M27909;M34671;M84349;M95708;NG_008057;NM_000611;NM_001127223;NM_001127225;NM_001127226;NM_001127227;NM_203329;NM_203330;NM_203331;X16447;X17198;X84805;Z14113 AAA51952;AAA60543;AAA60957;AAA88793;AAH01506;AAP35768;ABM84744;ABM92257;ABW03275;BAG34721;CAA34467;CAA35059;CAA78486;CAG28589;CAG46523;EAW68192;EAW68193;NP_000602;NP_001120695;NP_001120697;NP_001120698;NP_001120699;NP_976074;NP_976075;NP_976076;P13987 Hs.278573;Hs.709466;Hs.710641 1650673;1655949;1776467;1797370;2116761;2125681;2140294;2160154;2169120;2171725;2184132;2186093;2186373;5037552 A004V27;CD59;CD59_1802;D11S3984;D11S4339;D11S4717;D8S2279;HUM0S15C02;RH18284;RH44913;RH45061;SHGC-32142;STS-M34671;STS-N37061 16.3A5;1F5;EJ16;EJ30;EL32;FLJ38134;FLJ92039;G344;HRF-20;HRF20;MAC-IP;MEM43;MGC2354;MIC11;MIN1;MIN2;MIN3;MIRL;MSK21;p18-20 1F5 antigen;20 kDa homologous restriction factor;CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344);CD59 glycoprotein;Ly-6-like protein;MACIF;MEM43 antigen;OTTHUMP00000232408;OTTHUMP00000232409;OTTHUMP00000232410;OTTHUMP00000232411;OTTHUMP00000232412;OTTHUMP00000232413;OTTHUMP00000232414;OTTHUMP00000232415;OTTHUMP00000232416;OTTHUMP00000232608;OTTHUMP00000232610;T cell-activating protein;cd59 antigen;human leukocyte antigen MIC11;lymphocytic antigen CD59/MEM43;membrane attack complex (MAC) inhibition factor;membrane attack complex inhibition factor;membrane inhibitor of reactive lysis;protectin;surface anitgen recognized by monoclonal antibody 16.3A5 APPROVED protein-coding HGNC:1689 00117 107271;612300 REVIEWED 1320672 CD7 CD7 molecule This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes and mature T cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development. [provided by RefSeq, Jul 2008] 17 17 17 q25.2-q25.3 76866247 76868981 - 80272746 80275480 - 82314870 82317604 - 1580863;6480464 10490978;10652336;11423532;11485208;12393702;12477932;12594831;15489334;16332967;16837044;1695199;16990185;1703303;1711009;17287851;17959857;18343790;18956470;19207946;19683346;19937140;20046078;20175919;20398252;21988832;24157461;24211252;2479685;3258561;3501369;8125298;8662072;8666891;8871597;8918688;9480746;9852078 924 J3QLC7;J3QLM0;J3QRF1;J3QS65;J3QS78;P09564;Q29VG3 ABBA01019675;AC132872;AK223465;AK298096;AK310061;AK310558;AMYH02034152;AY935534;AY935535;AY935536;AY935537;BC009293;BC013297;BI838777;BI906419;BM917451;BT006696;CH471099;D00749;M37271;NM_006137;X06180 AAA51953;AAH09293;AAH13297;AAP35342;AAY15454;AAY15455;AAY15456;AAY15457;ABM81666;ABM83516;ABM84837;ABM86736;BAA00646;BAD97185;BAG60381;CAA29546;EAW89763;EAW89764;EAW89765;NP_006128;P09564 Hs.36972 1699966;1741211;2128933;5015790 G29875;GDB:178581;GDB:180952;RH103593 GP40;LEU-9;TP41;Tp40 CD7 antigen (p41);T-cell antigen CD7;T-cell leukemia antigen;T-cell surface antigen Leu-9;p41 protein APPROVED protein-coding ENSG00000173762 HGNC:1695 01732 186820 REVIEWED 1350471 CD74 CD74 molecule, major histocompatibility complex, class II invariant chain The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 5 5 5 q32 145862277 145873409 - 149781200 149792543 - 150401637 150412980 - 1580863;6480464;6907045 10022822;10748235;10981873;11593029;11754812;11897800;11927549;12058053;12477932;12782713;12970439;1448172;15194762;15475450;15489334;15688398;15845476;15972644;16107560;16242130;16365153;16428763;16439540;16454711;16542748;16618111;16678175;17045821;17142775;17192395;17567581;17959659;18178838;18438604;18524831;18596106;18684948;18719072;18828016;18842989;18941249;19131591;19327048;19423618;19592662;19665027;19845895;19849849;19913121;19946888;20012522;20198449;20357260;20443131;20463068;20628086;20646540;20820776;20864512;21059907;21068258;2121367;21228923;21417823;21423200;21543057;21748758;21792010;21832049;21890473;21906983;21922073;21945129;21988832;22039051;22042694;22069105;22178447;22216005;22611320;22659450;22689013;22761382;22889831;22905972;22935920;22942358;22952837;23000905;23273913;23289738;23572149;23730214;2391366;24035804;24205828;24220096;24569872;24594996;24663824;24683185;24731748;25015289;2507633;3001652;3036998;3132422;3459184;3866610;6324166;6576808;6586420;6955026;6982931;7477400;7519244;8316295;8343954;8397411;8574855;9752000;9843486 972 E7EQJ3;E7ER71;E7ESL3;H0YBZ2;H0YBZ8;P04233 ABBA01026281;AC011372;AC011388;AK292076;AK297889;AK300669;AK308929;AMYH02012458;BC018726;BC024272;BF796148;BT019505;CH471062;DC354760;K01144;M13560;M28588;M28589;M28590;NG_029730;NM_001025158;NM_001025159;NM_004355;X00497;X03339;X03340;XM_006714811 AAA35996;AAA36033;AAA36304;AAA58655;AAH18726;AAH24272;AAO49820;AAV38312;ABM82931;ABM86120;BAF84765;BAG60210;BAG62354;CAA25192;CAA25193;CAA27046;CAA27047;EAW61727;EAW61728;EAW61729;EAW61730;EAW61731;NP_001020329;NP_001020330;NP_004346;P04233;XP_006714874 Hs.436568 1667593;1679904;1794506;2125640;2179010;5127664 D5S2405;PMC316580P4;RH11594;RH11625;RH46360;RH93024 DHLAG;FLJ98970;HLA-DR-gamma;HLADG;II;Ia-GAMMA;p33 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated);HLA class II histocompatibility antigen gamma chain;HLA-DR antigens-associated invariant chain;Ia-associated invariant chain;MHC HLA-DR gamma chain;OTTHUMP00000224283;OTTHUMP00000224284;OTTHUMP00000224285;OTTHUMP00000224286;OTTHUMP00000224288;OTTHUMP00000224338;gamma chain of class II antigens;ia antigen-associated invariant chain APPROVED protein-coding ENSG00000019582 HGNC:1697 00825 142790 REVIEWED 1351721 CD70 CD70 molecule The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008] 19 19 19 p13 6525685 6531003 - 6582969 6591163 - 6585839 6591152 - 1580863;6480464 10800994;11728341;11920585;11980654;12009595;12031769;12100033;12197885;12324477;12477932;12777399;12926832;15128787;15153937;15188362;15489334;15723067;16751420;16892042;17132225;17192395;17548342;17615291;18216294;18256142;19018300;19029446;19109206;19322201;19380782;19394279;19452318;19556308;19573080;19638429;19773279;19955046;20119871;20139096;20201989;20568250;20628624;20699361;20724115;21182090;21192791;21304103;21490618;21541792;21550117;2163351;21865261;21880979;21906983;21917027;22306512;22377764;22399187;22401771;23206232;23576505;24684541;25015289;7479974;7706711;8120384;8120385;8186199;8387892;8580829;8690463;9177220;9366422;9767422;9862673 970 M0QZW2;P32970 ABBA01051465;AC008760;AK298467;AMYH02035356;BC000725;BT007211;CH471139;EF064709;HI179090;HI573892;KC877696;L08096;NM_001252;S69339 AAA36175;AAB30121;AAH00725;AAP35875;ABK41892;BAG60680;CBX47435;CBX53853;EAW69074;EAW69075;NP_001243;P32970 Hs.501497;Hs.715224 2107691;2153355 STS-L08096;TNFSF7_1930.2 CD27-L;CD27L;CD27LG;TNFSF7 CD27 ligand;CD70 antigen;Ki-24 antigen;surface antigen CD70;tumor necrosis factor (ligand) superfamily, member 7;tumor necrosis factor ligand superfamily member 7 APPROVED protein-coding ENSG00000125726 HGNC:11937 18515 602840 REVIEWED 1351395 CD69 CD69 molecule This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011] 12 12 12 p13 15066458 15074875 - 9905082 9913497 - 9752486 9760901 - 1580863;6480464;8554872 10441371;10480634;11036086;11101293;11438519;11895929;11994706;12077230;12210415;12234263;12398872;12423306;12477932;12540017;12548561;12580810;12626587;12718936;12865808;14728878;15489334;15893733;15952571;16103171;1612643;16396693;16525420;16788832;17192395;17237603;17541278;17693977;18593762;18627570;18959746;19275586;19383348;19430480;19543397;19670272;20054122;20237496;20378605;21152932;21427408;21557772;21990950;21993667;22184722;22456278;22479639;22678911;23454781;23507197;23546309;23758320;23954168;24044963;24752896;7665567;7887967;8026529;8100776;8340758;8496594;8528739;9049297 969 B4E009;Q07108;Q53ZX0 ABBA01067794;AC007068;AK291869;AK303174;AK303383;AMYH02026018;AY238518;BC007037;CH471094;HI574208;L07555;NM_001781;Z22576;Z30426;Z38109 AAB46359;AAH07037;AAO63584;ABM84101;ABM87473;BAF84558;BAG64271;BAG64439;CAA80298;CAA83017;CAA86225;CBX47593;EAW96122;EAW96123;NP_001772;Q07108 Hs.208854 1644321;1646906;1743983;1795522;2163425 CD69_506;GDB:384725;RH68090;STS-Z22576;WI-9214 AIM;BL-AC/P26;CLEC2C;EA1;GP32/28;MLR-3 C-type lectin domain family 2 member C;C-type lectin domain family 2, member C;CD69 antigen (p60, early T-cell activation antigen);OTTHUMP00000238849;OTTHUMP00000238850;activation inducer molecule (AIM/CD69);early T-cell activation antigen p60;early activation antigen CD69;early lymphocyte activation antigen;leukocyte surface antigen Leu-23 APPROVED protein-coding ENSG00000110848 HGNC:1694 00119 107273 REVIEWED 1314316 CD68 CD68 molecule This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 17 p13 7509128 7511752 + 7482805 7485429 + 7579487 7582111 + 1580863;6480464 10985244;12397372;12429719;12477932;12572894;12676954;15214825;15489334;15638380;16263699;16344560;16888915;17052752;17583472;18316565;19165649;19356953;19661345;20333725;20374310;21113139;21192298;21266828;21980389;21988832;22007938;22044760;22163030;22289504;22314623;22395501;22667341;22829776;22948049;22955918;22968485;23241402;23289476;23549871;23555776;23727038;23951013;24459672;24561123;7680921;8125298;8639768;9790779 968 J3KRX0;J3KT24;P34810 ABBA01054873;AC016876;AF060540;AK222492;AK222514;AK290238;AK298055;AK301223;AMYH02032908;AW294871;BC015557;BT009923;BX438711;BX647524;CH471108;DB187273;NG_009204;NM_001040059;NM_001251;S57235 AAB25811;AAC70006;AAH15557;AAP88925;ABM84727;ABM92248;BAD96212;BAD96234;BAF82927;BAG60349;BAG62796;EAW90165;NP_001035148;NP_001242;P34810 Hs.647419 1677160;1683743;1792084;1793826;2106979;2120336;2151291;2187387 CD68_7229;PMC136595P1;PMC296995P1;RH11637;RH83558;SHGC-31951;STS-R55342;WI-22031 DKFZp686M18236;GP110;LAMP4;SCARD1 CD68 antigen;OTTHUMP00000135285;macrophage antigen CD68;macrosialin;scavenger receptor class D, member 1 APPROVED protein-coding ENSG00000129226 HGNC:1693 01093 153634 REVIEWED 1320264 CD72 CD72 molecule ENCODES a protein that exhibits carbohydrate binding (inferred); receptor binding (inferred); INVOLVED IN axon guidance (inferred); cell adhesion (inferred); PARTICIPATES IN B cell receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane; INTERACTS WITH atrazine; fonofos; parathion 9 9 9 p13.3 35543537 35551985 - 35609976 35618862 - 35609979 35618865 - 1580863;6480464;6907045;8554872 10820378;11114375;11466342;12477932;12882840;15459183;15489334;15588985;16047337;1711157;17121583;17786190;18071878;19913121;20100931;20237496;2044654;20628086;2141045;22111667;22606231;23184497;23268649;8806810;9110174;9590210;9740800 971 P21854;Q5T4Q7;Q5T4Q8;Q5TLG3 AB180952;AB180953;AB180954;AB180955;AB180956;AB180957;AB180958;AB180959;AB209587;ABBA01064989;AF283777;AK307305;AK309268;AK310093;AK310685;AK311283;AL357874;AMYH02019463;BC011734;BC030227;CH471071;DQ174771;EF064751;JC231876;M54992;NM_001782;XM_005251632;XM_006716893;XM_006716894 AAA36189;AAH30227;ABA55068;ABK41934;BAD72857;BAD72858;BAD72859;BAD72860;BAD72861;BAD72862;BAD72863;BAD72864;BAD92824;CDM22280;EAW58372;EAW58373;NP_001773;P21854;XP_005251689;XP_006716956;XP_006716957 Hs.116481 1676558;1677318;2106981;2185528 CD72_7759;D11S4618;RH26484;RH98625 CD72b;LYB2;lyb-2 B-cell differentiation antigen CD72;CD72 antigen;OTTHUMP00000021342 protein-coding ENSG00000137101 HGNC:1696 00118 107272 VALIDATED 735587 CD63 CD63 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012] 12 12 12 q12-q13 55771700 55775380 - 56119227 56123457 - 55725443 55729673 - 1580863;2314182;2314188;2314203;6480464;8554872 10547212;15817881;19233449 10229664;10405235;10436028;10529602;10708443;11113129;11204565;11278880;11328596;11584299;11739647;11752456;11907283;12036870;12175627;12230470;12477932;12480921;12579280;12610138;12754519;12755696;12826159;12871315;12885763;12974720;1339263;1435334;14660791;14722309;15130945;15140999;15146197;15229288;15375577;15489334;15528334;15647390;15711748;15908444;1599482;16410552;16533950;16682056;16683915;16683918;16712791;16735575;16908530;16917503;16918509;16940516;17275019;17279322;17350713;17381240;17390088;17522207;17550307;17624082;17827389;17897319;17989173;18006034;18059278;18076669;18182005;18211905;18305041;18321974;18369466;18426873;18500329;18600034;18669870;18714047;18727065;1879540;18946087;18977142;19056867;19079288;19246649;19284574;19292867;19297499;19369333;19381331;19403684;19426143;19458002;19474101;19581020;19602278;19802344;19894777;19912576;1993697;20012524;20237496;20337613;20622010;20633031;20693981;20727121;21103663;21139048;21149578;21248205;21315401;21521534;21527913;21660937;21674799;2171551;21803846;21890473;21906983;21909273;21963094;22808325;22830021;22875976;22980332;23000965;23072732;23522389;24507450;24635319;2516848;3365686;4062294;7629079;7682577;8630057;8661157;8757325;8871662;9006891;9111230;9271374;9360995;9360996;9602068;9685355;9759843;9822308 967 C9JV86;F8VNT9;F8VV56;F8VWK8;F8VX62;F8W022;P08962 AA583189;ABBA01008384;AC009779;AF508304;AK311893;AL582859;AMYH02026548;AV650763;BC002349;BC013017;BE407235;BG478842;BG766593;BQ434569;BT007073;BT020137;BT020138;BU167765;BU190521;BU960599;CB128206;CD250685;CH471054;CN296813;CN296834;CN484590;CR542096;D00874;DB495090;EB386351;KF998086;M58485;M59907;NG_008347;NM_001257389;NM_001257390;NM_001257391;NM_001257392;NM_001257400;NM_001257401;NM_001267698;NM_001780;S93788;X07982;X62654 AAA63235;AAB21617;AAH02349;AAH13017;AAM34259;AAP35736;AAV38939;AAV38940;ABM82174;ABM85359;AHI51903;BAG34834;CAA30792;CAA44519;CAG46893;EAW96827;EAW96828;EAW96829;NP_001244318;NP_001244319;NP_001244320;NP_001244321;NP_001244329;NP_001244330;NP_001254627;NP_001771;P08962 Hs.445570 1777687;2180712;5113148 RH93515;RK1421_1422;STS-AA035150 LAMP-3;ME491;MLA1;OMA81H;TSPAN30 CD63 antigen;CD63 antigen (melanoma 1 antigen);OTTHUMP00000243852;OTTHUMP00000243853;OTTHUMP00000243854;OTTHUMP00000243855;OTTHUMP00000243856;OTTHUMP00000243857;OTTHUMP00000243858;OTTHUMP00000243859;OTTHUMP00000243970;granulophysin;lysosomal-associated membrane protein 3;lysosome-associated membrane glycoprotein 3;melanoma 1 antigen;melanoma-associated antigen ME491;melanoma-associated antigen MLA1;ocular melanoma-associated antigen;tetraspanin-30;tspan-30 APPROVED protein-coding ENSG00000135404 HGNC:1692 01121 155740 REVIEWED 730908 CD79B CD79b molecule, immunoglobulin-associated beta The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 17 q23 56394160 56397766 - 62006098 62009710 - 63928738 63932349 - 633033;1580863;6480464;6907045;7240710;8554872;8699517 9545642 10808179;11389892;11907094;12384401;12393534;12453414;12477932;12482395;12651942;12886015;1534761;15489334;15661909;1591006;16847312;17315213;17374736;17701175;17709424;17878339;18029348;18978465;19322201;19573080;19773279;19913121;20237496;20568250;20628086;20881960;21324920;21355953;21906983;22808296;23361872;23649625;24253023;24444466;25015289;7500027;7512031;7514267;7516335;7538118;7539038;7541024;7592958;7643857;7913081;8077654;8125298;8419481;8486355;8555489;8656670;8747711;9120258;9418137;9521881;9531288 974 P40259;Q6PIS4 ABBA01035315;AC127029;AK222954;AK223210;AK313583;AMYH02033784;AX775815;AX775817;BC002975;BC030210;BC032651;CH471109;JA738625;JA738627;JA738629;JC231880;L27587;M80461;M89957;NG_007368;NM_000626;NM_001039933;NM_021602;S52229;S79249;U22954;X83538;X83539;XM_005257858 AAA58387;AAA64459;AAA72424;AAA98831;AAB24822;AAC60654;AAH02975;AAH30210;AAH32651;BAD96674;BAD96930;BAG36353;CAA58522;CAE11607;CAE11608;CCF76965;CCF76966;CCF76967;CDM22282;EAW94227;EAW94228;EAW94229;EAW94230;EAW94231;EAW94232;NP_000617;NP_001035022;NP_067613;P40259;XP_005257915 Hs.89575 1687738;1794892;2217128 CD79B_3258;PMC83897P1;RH93822 AGM6;B29;IGB B-cell antigen receptor complex-associated protein beta chain;B-cell-specific glycoprotein B29;CD79b antigen (immunoglobulin-associated beta);Ig-beta;immunoglobulin-associated B29 protein APPROVED protein-coding ENSG00000007312 HGNC:1699 00922 147245;612692 REVIEWED 1346600 CD79A CD79a molecule, immunoglobulin-associated alpha The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 39180875 39185124 + 42381190 42385439 + 41877120 41881372 + 1580863;6480464;6907045;7240710;8699517;8554872 10438530;10540352;10748115;11449366;11907094;11909947;12186846;12403343;12477932;12651942;12886015;1395095;1446073;14499622;15174051;1534761;1538135;15492262;15591116;1569106;1591006;16271957;1639443;16517729;1729378;17350472;17374736;17701175;17878339;18160827;1881434;1940346;19573080;19883431;19913121;20102401;20237496;20628086;21324920;21822214;24146823;2463161;25015289;6196366;7500027;7512031;7514267;7516335;7539038;7592958;7643857;7916003;7927516;7989333;8077654;8125298;8144961;8207205;8656670;8666916;8747711;9110174;9120258;9183005;9418137;9531288;9561918 973 M0QX61;P11912 ABBA01040816;AC010616;AC243967;AF283770;AK223371;AK315337;BC113731;BC113733;CH471126;JA738565;JA738567;L32754;M74721;M80462;M86921;NG_009619;NM_001783;NM_021601;S46706;S75217;S79248;U05259;X13451;X83540 AAA20495;AAA57274;AAA59556;AAA59557;AAA60270;AAB20812;AAB23558;AAC60653;AAG15590;AAI13732;AAI13734;ADR82885;BAD97091;BAG37737;CAA31802;CAA58523;CCF76935;CCF76936;EAW57075;EAW57076;NP_001774;NP_067612;P11912 Hs.631567 1661426;1677194;1743641;2217126;5120640;5120642 CD79A_3009;GDB:363615;GDB:363618;GDB:363621;RH49;STS-U05259 IGA;MB-1 B-cell antigen receptor complex-associated protein alpha chain;CD79a antigen (immunoglobulin-associated alpha);MB-1 membrane glycoprotein;ig-alpha;membrane-bound immunoglobulin-associated protein;surface IgM-associated protein APPROVED protein-coding ENSG00000105369 HGNC:1698 00203 112205;613501 REVIEWED 737082 CD80 CD80 molecule The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011] 3 3 3 q13.3-q21 117651693 117687039 - 119243140 119278481 - 119524293 119559634 - 1580863;2307200;4892562;5132623;5132619;5132620;5132622;5132621;5132624;5132270;4892292;6480464;6902939;6902902;6902906;6902903;6902898;6893671;727266;6893670;6893665;6902936;6893647;6902937;6902938;6893669;6907045;8554872 10078962;10590132;10604996;10657664;10712436;11160314;19658094;19729666;19922665;20653937;20876353;20949109;21051864;21108691;21310664;21352203;21440530;21494618;22004797;22068168;22192168;22917707;9379015 10661405;10807504;11045378;11123305;11137584;11168518;11168574;11169444;11196673;11222911;11279502;11726649;11741888;11751963;11826754;11830501;11936473;12015893;12067755;12097397;12100477;12149421;12352894;12355442;12372936;12444120;12477932;12513711;12569387;12606712;12660731;12798307;12800259;12829914;12829919;12860928;12878356;12905492;1370389;1377173;14530356;14692664;14871408;14975605;14978077;15034022;15063762;15110532;15163715;15201958;15254713;15254772;15272203;15342556;15377288;15489334;15598660;15610849;15611322;15628695;15942292;15956545;16002699;16177101;16237059;16237760;16272310;16454711;16521215;16621031;16690948;16818765;17077296;1714935;17201120;17309825;17323353;17524139;17605869;17703412;17925605;17953528;17977894;17989345;18005680;18026115;18546634;18577795;18585785;18676680;18802089;18928583;18929847;18945465;19012493;19056875;19149577;19170196;19240061;19258923;19275586;19433065;19458171;19550123;19625176;19692168;19811307;19817957;19828628;20034904;20066438;20118277;20140740;20145927;20190752;20237496;20331378;20503287;20601595;20716621;20802378;20884055;20979791;21048031;21288140;21399635;21414970;21469977;21474713;21555531;21697455;21778700;21982860;22074996;22103833;22142817;22561518;22704122;23000144;23246582;23273568;23289444;23470321;23671644;23689904;23773232;23918985;24023945;24080446;24415757;24505475;24523507;24951814;2794510;7499425;7527824;7541827;7545666;7589092;8086129;8361751;8814244;9032261;9250865;9282998;9286703;9915850 941 A0N0P2;P33681 ABBA01061582;ABBA01061583;AC073352;AK292129;AMYH02007501;AMYH02007502;AY081815;AY197777;AY197778;BC042665;BP225173;CH471052;EF064750;M27533;M83077;NM_005191;U72535 AAA36045;AAA58390;AAC51754;AAH42665;AAL89819;AAO39208;AAO39209;ABK41933;BAF84818;EAW79564;EAW79565;NP_005182;P33681 Hs.838 1645107;1679790;1754815;2155589;2170824 D3S2834E;D3S4161;RH65151;SHGC-12394;SHGC-141736 B7;B7-1;B7.1;BB1;CD28LG;CD28LG1;LAB7 B-lymphocyte activation antigen B7;CD80 antigen (CD28 antigen ligand 1, B7-1 antigen);CTLA-4 counter-receptor B7.1;OTTHUMP00000215214;OTTHUMP00000215215;T-lymphocyte activation antigen CD80;activation B7-1 antigen;cd80 antigen;costimulatory factor CD80;costimulatory molecule variant IgV-CD80 APPROVED protein-coding ENSG00000121594 HGNC:1700 00202 112203 REVIEWED 1604068 CD82 CD82 molecule This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 44734291 44788479 + 44587141 44641339 + 44564427 44620363 + 2289398;2289401;2289404;2289406;2289422;68869;2289425;2289399;2289403;2289405;2289390;2289391;2289400;2289402;2289407;6480464;6907045;7240710;8554872 10321446;11275982;12079303;12497033;12684410;12806379;14706010;15277499;15592684;15642213;15958618;17290345;17393117;9831222 10229664;10582691;10602019;10741407;10749879;10985391;11162423;11278880;11350933;11584299;11839793;11895916;11981820;12474542;12477932;12579280;12642901;12738793;12747469;12750295;12753720;12885763;12955496;1401919;14576349;15205336;15237426;15259074;15375577;15454569;15492270;15557282;15677461;15829968;1596907;15996322;16169070;16325219;16488391;16494006;16712791;16735575;16861889;17166843;17200188;17215249;17283532;17381240;17520389;17560548;17621632;17672940;17982617;17989173;18028322;18034776;18037895;18059278;18272501;18305955;18415123;1842498;18622748;18712725;18946087;18981120;19024519;19048121;19082457;19107873;19116362;19148553;19199708;19284574;19371633;19489224;19497983;19549254;19559406;19656997;19666408;19680475;19755988;19951590;20002769;20012524;20075392;20089858;20144992;20237496;20581239;2065333;20864363;21149584;21168384;21382346;21454613;21459729;21521534;21685244;21691075;21875585;21906983;21961244;21965773;22123080;22152691;22320990;22320993;22390300;22393164;22443383;22505724;22670173;22679510;22681921;22718295;23055153;23076981;23102249;23251627;23349235;23449627;23553196;23696923;23704882;23797738;23873015;23873025;23897813;24130172;24613834;7636191;7754374;8125298;8757325;8816400;9126478;9685355;9759843;9804823;9862348 3732 E9PJ45;E9PJ59;E9PJB7;E9PJC7;E9PJK9;E9PM43;E9PP61;H0YD57;P27701 ABBA01060770;AC010768;AK225410;AK225708;AK312677;AMYH02024684;AMYH02024685;AMYH02024686;AY303776;BC000726;BC001821;BT019761;BT019762;CB127804;CH471064;CR407650;CR542255;JA738773;JA738775;NG_023234;NM_001024844;NM_002231;S48196;U20770;U67266;U67274;XM_006718222;XM_006718223 AAB23825;AAC50133;AAC51205;AAH00726;AAH01821;AAP76181;AAV38566;AAV38567;ABM83228;ABM86427;BAG35558;CAG28578;CAG47051;CCF77039;CCF77040;EAW68063;EAW68064;EAW68065;NP_001020015;NP_002222;P27701;XP_006718285;XP_006718286 Hs.527778 1762839;1771896;2124461;5014051;5015619;5021872;5024039;5037552;7184045 D11S3114;D16S325;D8S2278;D8S2279;G02140;SHGC-146608;STS-X53795;sY3084 4F9;C33;GR15;IA4;KAI1;R2;SAR2;ST6;TSPAN27;tspan-27 C33 antigen;CD82 antigen;OTTHUMP00000232950;OTTHUMP00000232951;R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4;inducible membrane protein R2;kangai 1;kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4));metastasis suppressor Kangai-1;suppression of tumorigenicity 6, prostate;tetraspanin-27 APPROVED protein-coding ENSG00000085117 HGNC:6210 09004 176807;600623 REVIEWED 1352472 CD83P1 CD83 molecule pseudogene 1 6 6 6 p22.1 29134615 29135560 - 27528605 27529550 - 27560826 27561771 - 100128240;387033 ABBA01037999;AL021918;AMYH02013382;NG_022297 CD83P;HB15p;b34I8.3 APPROVED pseudo HGNC:13946 INFERRED 7391663 CD81-AS1 CD81 antisense RNA 1 11 11 p15.5 2349979 2399233 - 2328749 2377992 - 12477932 101927682 ABBA01032092;ABBA01032093;ABBA01032094;ABBA01032095;AC129929;AMYH02024190;AMYH02024191;BC019904;BC042822;LN608370;NR_108080 Hs.675920;Hs.738040 ncrna ENSG00000238184 HGNC:49384 VALIDATED 1349028 CD84 CD84 molecule This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 1 1 1 q24 133579617 133618049 - 160510884 160549306 - 160541094 160579516 - 6480464;8554872 10698700;10746783;11238035;11313386;11389028;11414741;11477068;11564780;11689425;12115647;12477932;12621057;12928397;12962726;15245368;15489334;16037392;16710414;17192395;17563375;18243321;21145461;22068234;23435417;23555300;24635044;24816145;3008886;7797269;9310491 8832 Q96RX1;Q9UIB8 ABBA01016612;AF054815;AF054816;AF054817;AF054818;AF081189;AF114490;AJ223324;AK296290;AK313496;AL138930;AMYH02002026;BC020063;CA448708;CH471121;CR541847;CR933666;NM_001184879;NM_001184881;NM_001184882;NM_003874;U82988;U96627;XR_241101;Y12632 AAB84364;AAD04232;AAD13155;AAF21721;AAF21722;AAF21723;AAF21724;AAH20063;AAK68906;ABM82634;ABM85798;BAG36278;BAH12304;CAA11264;CAA73181;CAG46645;CAI45963;EAW52707;EAW52708;EAW52709;EAW52710;EAW52711;EAW52712;NP_001171808;NP_001171810;NP_001171811;NP_003865;Q9UIB8 Hs.398093 1771542;2186483;5016478;5021369;5022651 AL009296;D11S2921;G16260;GDB:434012;L17796 DKFZp781E2378;LY9B;SLAMF5;hCD84;mCD84 CD84 antigen (leukocyte antigen);OTTHUMP00000024394;OTTHUMP00000024395;OTTHUMP00000024396;OTTHUMP00000024397;OTTHUMP00000024398;SLAM family member 5;cell surface antigen MAX.3;hly9-beta;leucocyte differentiation antigen CD84;leukocyte antigen CD84;leukocyte differentiation antigen CD84;signaling lymphocytic activation molecule 5 APPROVED protein-coding ENSG00000066294 HGNC:1704 05151 604513 VALIDATED 736307 CD8B CD8b molecule The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigens displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 beta chain isoforms. Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described. A pseudogene, also located on chromosome 2, has been identified. [provided by RefSeq, May 2010] 2 2 2 p12 86870194 86880209 - 87042460 87089047 - 86815337 86861924 - 6480464;6484113;6907045;8554872 10623829;10809759;11131152;11937547;12215456;12459555;12477932;12702212;1541829;15980863;16103193;16344560;18473783;18490743;19149577;19322201;19768696;20379614;2111591;21543478;21685912;21922073;21936714;21954283;22013062;22844345;24047902;24297179;2493728;2536941;3114136;3145195;3145196;3264320;3860845;8436166;9550407;9830036 926 E9PD41;P10966 ABBA01075791;ABBA01075792;ABBA01075793;ABBA01075794;ABBA01075795;AC111200;AC112696;AK303360;AK303595;AMYH02004205;AW296309;AW611750;AY032722;BC100911;BC100912;BC100913;BC100914;BP392114;BQ004743;DB223179;DC405359;JA738613;JA738615;JA738617;JA738619;M17514;M36712;NM_001178100;NM_004931;NM_172101;NM_172102;NM_172213;S55731;S87075;S87083;S87087;S87090;X13444;X13445;X13446;X13452;XR_244970;Y00805 AAA35664;AAA52283;AAB21668;AAB21669;AAB21670;AAB21671;AAB21672;AAD13877;AAI00912;AAI00913;AAI00914;AAI00915;AAK91556;AAK91557;AAY24019;BAG64420;BAG64610;CAA31795;CAA31796;CAA31797;CAA31803;CAA68750;CCF76959;CCF76960;CCF76961;CCF76962;NP_001171571;NP_004922;NP_742099;NP_742100;NP_757362;P10966 Hs.405667 1648194;2145898;2162329;5015861;5017999;5022578;7185938 D10S16;D1S1423;D2S2568;EMBRA118;RH70958;SHGC-11929 CD8B1;LYT3;Leu2;Ly3;MGC119115;P37 CD8 antigen, beta polypeptide 1 (p37);OTTHUMP00000160762;OTTHUMP00000160763;OTTHUMP00000198673;OTTHUMP00000203521;T lymphocyte surface glycoprotein beta chain;T-cell surface glycoprotein CD8 beta chain;cd8 antigen, beta chain APPROVED protein-coding ENSG00000172116 HGNC:1707 01725 186730 REVIEWED 1604658 CD86 CD86 molecule This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011] 3 3 3 q21 120183894 120249657 + 121774209 121839990 + 122055362 122121143 + 2313906;2313911;2313930;2313917;2313932;2313920;2313939;2307206;2313927;4892202;4892210;2313025;4892207;4892209;4892211;4892199;4892295;4892277;4892293;4892246;4892570;4892227;4892339;4892280;4892554;4892555;4892258;4892281;4892343;4892229;4892291;4892292;4892553;4892237;4891504;4892294;4892329;4892562;4892560;6480464;6902938;6907045;8554872 10477557;10590132;10679081;11266944;12742378;15356107;16232222;16272336;16790753;16861672;17088138;17513529;17713660;17947667;18292558;18316361;18360875;18381617;19053043;19197726;19282343;19693657;19729666;19907296;19933871;20046053;20113783;20171363;20233162;20395561;20451260;20668438;20732370;20941750;20949109;8816976;8899799;8993020;9449507;9551945 10464129;10886401;11021528;11029388;11123305;11162656;11169444;11196673;11207262;11238115;11279501;11496240;11702979;11714768;11726649;11751963;11756476;11823047;11826754;11986949;12015893;12071705;12097397;12100033;12187923;12213904;12372936;12477932;12486098;12513711;12582153;12606712;12660731;12672403;12829914;12878356;12905492;14692664;14727087;14871408;14975605;14978077;15019278;15034022;15045639;15059478;15110532;15163715;15280476;15489334;15611322;15623548;15628695;15895390;15908444;15942292;15956545;16002699;16115907;16177101;16223675;16272310;16339520;16344560;16690948;16712644;16818765;17077296;17386046;17524139;17605869;17622942;17703412;17919231;17925605;17963596;17977894;17989345;18005680;18069758;18301333;18322188;18506362;18577795;18580477;18676680;18941200;18945465;19012493;19086656;19149577;19170196;19257981;19258923;19275586;19299714;19430862;19550123;19625176;19692168;19735272;19828628;19852851;19913121;20012528;20019769;20066438;20067533;20100932;20118277;20212510;20230296;20237496;20331378;20380573;20388394;20433886;20503287;20601595;20628086;20802378;20884055;20971123;20979791;21048031;21469977;21474713;21525579;21540807;21563968;21628959;21778700;21833088;21870962;21896490;21911468;21922073;21982860;21988832;22074996;22103833;22142817;22182632;22190364;22199280;22246628;22371880;22379101;22558273;22659416;22732586;22808111;22821131;22962607;23175469;23246582;23289444;23470321;23661460;23867827;24023945;24202305;24378263;24415757;24505475;24951814;25015289;7489738;7495740;7513726;7520767;7527824;7541777;7542604;7694153;7694363;9032261;9250865;9573027;9915850 942 A8K632;C9JXS1;F8W8W1;H7C4F8;P42081 ABBA01016472;ABBA01016473;AC068630;AK291497;AK294663;AK301237;AK313103;AK316203;AMYH02007534;AMYH02007535;BC040261;BX093060;CD705810;CH471052;CR541844;DA619360;EF064748;JC231874;L25259;NG_029928;NM_001206924;NM_001206925;NM_006889;NM_175862;NM_176892;U04343;U17722;XM_005247905 AAA58389;AAA86473;AAB03814;AAH40261;ABK41931;ABM84713;ABM92234;BAF84186;BAG35926;BAH11839;BAH13438;BAH14574;CAG46642;CDM22279;EAW79493;EAW79494;NP_001193853;NP_001193854;NP_008820;NP_787058;NP_795711;P42081;XP_005247962 Hs.171182 1649198;1652076;1667695;1697368;1758301;1795524;2127943 CD86_510;D3S2989;G31041;RH102182;RH11462;SGC35242;SHGC-147993 B7-2;B7.2;B70;BU63;CD28LG2;FUN-1;LAB72;MGC34413 B-lymphocyte activation antigen B7-2;B-lymphocyte antigen B7-2;B7-2 antigen;CD28 antigen ligand 2;CD86 antigen (CD28 antigen ligand 2, B7-2 antigen);CTLA-4 counter-receptor B7.2;OTTHUMP00000215511;OTTHUMP00000215512;OTTHUMP00000215513;OTTHUMP00000215514;OTTHUMP00000215515;T-lymphocyte activation antigen CD86;activation B7-2 antigen APPROVED protein-coding ENSG00000114013 HGNC:1705 03011 601020 REVIEWED 1348494 CD8BP CD8b molecule pseudogene INVOLVED IN immune system process (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 q12.1 107103824 107124137 + 106487368 106507681 + 6480464 1541829;3860845;8346216;8436166;8575821 927 A6NJW9 ABBA01043974;AC108868;AMYH02004493;NG_002423 A6NJW9 1648194;2145898 D2S2568;RH70958 CD8B2 cd8 antigen, beta polypeptide 2, pseudogene (p37) pseudo HGNC:1708 INFERRED 1320150 CD83 CD83 molecule The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 6 6 6 p23 15357416 15376702 + 14117487 14137149 + 14117256 14136918 + 1580863;6480464 10567699;11238630;11751963;12072358;12182451;12477932;12594843;12857898;1378080;14687618;14962896;15320871;15340161;15454113;15489334;15611322;15721284;15905506;15956545;16012714;16344560;16484227;16806233;17178712;17197902;17360657;17428858;17469160;17535098;17561858;17628801;18056445;18292234;18625638;18755511;19130553;19195701;19234177;19257981;19317050;19321495;19828628;20118277;20237496;20566323;20861805;21076370;21469977;21963094;21988832;22065790;22134374;22446963;23100517;23246582;23251661;23339870;24268989;24505475;24643878;7706722;8125298;8422464;9310491;9417921;9799334 9308 Q01151 ABBA01022139;AK223315;AK290426;AK307059;AK309541;AL022396;AL133259;AMYH02013146;BC004351;BC030830;BT019498;CH471087;CQ815388;CQ840966;CR457019;DA532022;DB178710;HI574018;HI574020;NG_030372;NM_001040280;NM_001251901;NM_004233;S53354;Z11697 AAB25085;AAH30830;AAV38305;ABM83282;ABM86489;BAD97035;BAF83115;CAA77755;CAG32923;CAG33300;CAH05711;CBX47498;CBX47499;EAW55351;EAW55352;EAW55353;NP_001035370;NP_001238830;NP_004224;Q01151 Hs.595133 1674361;2115661;2171311 D6S1838;RH46624;WI-21167 BL11;HB15;hCD83 B-cell activation protein;CD83 antigen;CD83 antigen (activated B lymphocytes, immunoglobulin superfamily);OTTHUMP00000016057;cell surface protein HB15;cell-surface glycoprotein APPROVED protein-coding ENSG00000112149 HGNC:1703 05170 604534 REVIEWED 735285 CD8A CD8a molecule The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 2 2 2 p12 86839534 86863331 - 87011728 87035519 - 86784605 86808396 - 6480464;6484113;6907045;7240710;8554872;8699517 10022843;10444591;10490978;10562325;10623829;10809759;10843658;11102443;11131152;11140838;11251883;11435463;11729321;11914379;11937547;12124384;12215456;12477932;12594841;12899833;1377690;14500983;14559993;14702039;15078895;1541829;1547508;15927673;15975922;16344560;16354571;16454711;1676132;16818755;16821115;17213291;17658607;17678538;17950725;18089323;18156204;1831127;1834739;18398508;18418773;18483277;18625635;18650384;18695005;18833003;18956469;1908512;19149577;19751272;19752186;19768696;20053942;20237496;20644117;20682852;20704820;20850477;21142701;21257970;21430066;21518761;21543478;21645925;21813446;21818290;21936714;21948982;21954283;21988832;22001684;22013062;22045731;22103833;22143984;22175768;22185976;22345473;22551306;22811543;22844345;23185362;23225889;23363813;23400868;23640800;23716548;23878500;24047902;24297179;2470098;2493728;2496167;2509342;2536941;2701945;2877435;3145195;3871356;3918796;3936473;6440142;6605969;8127870;9177355;9331948;9366416;9550407;9790534;9804427;9830036 925 B8ZZZ4;P01732;Q6ZVS2;Q8TAW8 AA668685;ABBA01075791;AC064848;AC112696;AK097942;AK124156;AK300089;AMYH02004203;AMYH02004204;AY039664;BC025715;CH471053;DA075688;DB129686;M12824;M12828;M26313;M26314;M26315;M27161;NG_011608;NM_001145873;NM_001768;NM_171827;NR_027353 AAA59674;AAA61133;AAA79217;AAA79218;AAB04637;AAH25715;AAK72403;AAX88864;ABM84249;ABM87637;ABM87638;BAC85789;BAG53555;BAG61892;EAW99438;EAW99439;EAW99440;EAW99441;NP_001139345;NP_001759;NP_741969;P01732 Hs.85258 1741477;1771174;2178221 D2S2642;GDB:181237;SHGC-6997 CD8;Leu2;MAL;p32 CD8 antigen, alpha polypeptide (p32);Leu2 T-lymphocyte antigen;OKT8 T-cell antigen;OTTHUMP00000160760;OTTHUMP00000160764;OTTHUMP00000203527;OTTHUMP00000203528;OTTHUMP00000203721;T cell co-receptor;T-cell antigen Leu2;T-cell surface glycoprotein CD8 alpha chain;T-lymphocyte differentiation antigen T8/Leu-2;T8 T-cell antigen;cd8 antigen, alpha chain APPROVED protein-coding ENSG00000153563 HGNC:1706 01737 186910;608957 REVIEWED 731700 CD81 CD81 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 p15.5 2433431 2453456 + 2397391 2418649 + 2376161 2397419 + 734728;6480464;6907045;7240710;8699517;8554872 11781363 10229664;10400713;10459022;10729140;10741407;10846074;11080483;11087758;11226150;11273649;11278880;11504738;11584299;11673522;11739647;11781364;12036870;12175627;12209363;12210407;12368358;12421929;12437138;12471100;12477932;12483205;12492902;12519228;12522210;12597781;12604806;12645944;12885763;12913001;12970454;1383329;14607925;14676841;14722300;14728804;14966136;15123813;15136562;15231747;15280458;15294858;15489334;15500552;15670777;15767432;15908444;15956553;16169070;16289162;16339892;16352525;1650385;16533950;16641285;16682056;16735575;16735696;16912317;16940516;1695320;17015697;17079281;17079294;17166843;17194487;17329343;17381240;17407154;17457918;17507469;17522207;17784784;17827389;17941058;17942559;17989173;18029348;18034776;18059278;18076669;18321974;18337570;18355410;18369466;18382656;18466772;18523555;18566382;18579606;1860863;18676680;18713730;18799285;18805782;18829747;18851979;18945959;18981120;19028452;19030166;19056867;19148942;19170196;19284574;19328198;19426143;19458002;19476617;19559406;19573080;19602278;19625176;19626614;19654214;19692168;19755988;19773279;19802344;19817957;19828092;19830727;19846809;19894777;19901060;19912576;19946888;20004001;20012524;20089661;20237408;20237496;20331378;20375010;20568250;20588308;20727121;21048031;21060818;21103663;21139048;21151997;21241315;21343309;21428934;21428935;21526201;21551950;21677313;21705339;21737455;21813604;21890473;21906983;21963094;21988832;22074322;22333880;22355327;22560863;22677126;22740401;22808325;22830021;22855500;22897233;22939629;22980332;23126643;23226274;23264205;23264468;23311681;23349980;23351194;23463506;23498955;23613949;23704882;23762099;23858057;23864651;2398277;24122777;24130495;24211330;24561123;24667602;24733393;7636191;7690834;8039242;8168850;8630057;8816400;9360995;9360996;9403053;9685355;9794763;9804823;9862348 975 A6NMH8;E9PIF1;E9PJK1;E9PM31;E9PPF5;E9PQV4;E9PRJ8;H0YDJ9;H0YDL9;H0YEE2;P60033 AB209380;ABBA01032092;ABBA01032093;AC124057;AC129929;AI334163;AMYH02024190;AMYH02024191;BC002978;BC093047;BG397506;BP323362;BQ709484;BT019507;BT019508;CB055265;CH471158;EF064749;M33680;NG_023386;NM_001297649;NM_004356;XM_005253260 AAA36663;AAH02978;AAH93047;AAV38314;AAV38315;ABK41932;ABM82762;ABM82775;ABM85948;BAD92617;EAX02507;EAX02508;NP_001284578;NP_004347;P60033;XP_005253317 Hs.54457 1769794;2171408;2185147 GDB:678191;SHGC-57855;WI-18911 CVID6;S5.7;TAPA1;TSPAN28 26 kDa cell surface protein TAPA-1;CD81 antigen;CD81 antigen (target of antiproliferative antibody 1);OTTHUMP00000011528;OTTHUMP00000011529;OTTHUMP00000229004;OTTHUMP00000229005;OTTHUMP00000229006;OTTHUMP00000229008;OTTHUMP00000229358;OTTHUMP00000229392;cd 81 antigen;target of antiproliferative antibody 1;target of the antiproliferative antibody 1;tetraspanin-28;tspan-28 APPROVED protein-coding ENSG00000110651 HGNC:1701 08924 186845;613496 REVIEWED 1343806 CD96 CD96 molecule The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 q13.13-q13.2 109660587 109770891 + 111260926 111384843 + 111542079 111665996 + 1580863;6480464;7240710;8554872;8699517 12477932;1313846;15034010;17576927;17847009;19056733;20237496;20301533;21685187;21729528;22879978;23272144;24751333;9845376 10225 E9PEJ1;F8WDV3;H7C4F0;P40200;Q8WUE2;U3KPT0 ABBA01061670;ABBA01061671;AC055748;AC092916;AK290719;AK315237;AL833681;AMYH02007430;AMYH02007431;AW341041;BC020749;BC027914;CH471052;NG_012156;NM_005816;NM_198196;XM_005247063;XM_006713469;XM_006713470;XR_241462;XR_241466 AAH20749;BAF83408;BAG37664;CAI46155;EAW79696;EAW79697;EAW79698;NP_005807;NP_937839;P40200;XP_005247120;XP_006713532;XP_006713533 Hs.142023 1336105;1678449;1784852;2134760;2142721;5015619;5022578;5037552 D11S3114;D1S1423;D3S1572;D8S2279;G15945;RH41685;SHGC-155976;STS-M88282 DKFZp667E2122;MGC22596 CD96 antigen;OTTHUMP00000214642;OTTHUMP00000214643;OTTHUMP00000214645;T cell activation, increased late expression;T-cell surface protein tactile;TACTILE;cell surface antigen CD96;t cell-activated increased late expression protein APPROVED protein-coding ENSG00000153283 HGNC:16892 06916 211750;606037 REVIEWED 732702 CD9 CD9 molecule This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011] 12 12 12 p13.3 7925577 7963448 + 6309482 6347437 + 6200316 6238271 + 734730;1580863;2289405;2326197;2289390;2326208;2326206;2326207;2326200;6480464 10634790;11505398;12079303;14534881;14695144;16132579;17393117;17406028 10065872;10227388;10229664;10429193;10459022;10515286;10518536;10694273;10711425;10741407;11087758;11204565;11238109;11278880;11325968;11504738;11735113;11739647;11846885;11858824;11920609;11959120;12036870;12086470;12175627;12411441;12453879;12477932;12569360;12579280;1377690;14556650;14575715;15047125;15145525;15196249;15226408;15326289;15389525;15476162;15489334;15492270;15591117;15941914;15985154;16103120;16128989;16144798;16297202;16341674;16491954;16502470;16537545;16682943;16735575;16900214;16940516;16951553;17015697;17018612;17192395;17203208;1720807;17407154;17522207;17582603;17644758;17668233;17845760;17989173;17997888;18000614;18034776;18247373;18321974;1840589;18483358;18508921;18541721;18544636;18710926;18725936;1879540;18981120;19254692;19322201;19330835;1939101;19426143;19458002;19559406;19602278;19692500;19777564;19802344;19894777;19896186;19955810;1997380;20118909;20227387;20237496;2037603;20422979;20547009;20566742;20574531;20581239;20727121;20862371;20937409;20940407;21036922;21063023;21103663;21139048;21161334;21241315;21244575;21365281;21428940;21521534;21549094;21674799;21813604;21906983;21963094;22095071;22139419;22592495;22613496;22980332;23128478;23142642;23223239;23225418;23291167;23389628;2358073;23613949;23776197;23840773;24038577;24145510;24201754;24246676;24466195;24561123;24723389;24747564;6198179;6792721;7511626;8194524;8478605;8486348;8521390;8630057;9111230;9133457;9295027;9360996;9804823;9812906;9813091 928 A6NNI4;B4DK09;F5GXT1;G8JLH6;P21926 AB079244;ABBA01017634;AC006057;AI003581;AK296332;AK296894;AK298431;AK308700;AK309527;AK311020;AK315219;AMYH02025945;AMYH02025946;AY422198;AY423720;AY966455;BC011988;BG291377;BM763066;CH471116;HM245393;JA738701;L08119;L08120;L08121;L08122;L08123;L08124;L34068;M38690;NM_001769;S60489;X60111;XM_005253814 AAA51954;AAA51955;AAA51956;AAA51957;AAA51958;AAA51959;AAA59982;AAA80320;AAC60586;AAH11988;AAQ87878;AAS00483;AAX78197;ABM82240;ABM85424;BAE71132;BAG59021;BAG59453;BAG60652;CAA42708;CCF77003;EAW88812;EAW88813;NP_001760;P21926;XP_005253871 Hs.114286;Hs.712104 1657643;1733626;1775869;1782588;2127694;2139043;2145984;2154826;2178699;2217132;5094038 A010B11;CD9_3002;D12S1005;D12S1887;G10611;G33070;GDB:384746;RH44617;SHGC-132041;SHGC-34900;STS-M38690 5H9;BA2;BTCC-1;DRAP-27;FLJ99568;GIG2;MIC3;MRP-1;P24;TSPAN-29;TSPAN29 5H9 antigen;BA-2/p24 antigen;CD9 antigen;CD9 antigen (p24);OTTHUMP00000041574;OTTHUMP00000041575;OTTHUMP00000041576;OTTHUMP00000238624;antigen defined by monoclonal antibody 602-29;cell growth-inhibiting gene 2 protein;growth-inhibiting gene 2 protein;leukocyte antigen MIC3;motility related protein;motility related protein-1;motility-related protein;p24 antigen;tetraspanin-29 APPROVED protein-coding ENSG00000010278 HGNC:1709 00880 143030 REVIEWED 1347739 CD99L1 CD99 antigen-like 1 7833914 4196 HGNC:7083 1351917 CD93 CD93 molecule The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23133371 23140349 - 23059993 23066977 - 23079356 23086340 - 1580863;6480464;8554872 10092817;10430665;10648005;11076863;11086025;11204562;11256614;11780052;11781389;11994479;12140365;12213329;12477932;12891708;1377218;14702039;15459234;15489334;15489336;15819698;16381901;17474147;18094537;18599554;18834607;19166692;19344414;19372141;19423540;19796797;20237496;20406964;20438785;20512406;21332844;21768350;21988832;2212670;22206251;23052251;23251661;23268996;23272129;23651874;24033555;24124411;24807719;25036637;8062452;8710908;9047234;9136074;9469455;9476117;9777410 22918 Q9NPY3 AB209895;ABBA01016174;AJ295142;AK056764;AK299957;AL118508;AMYH02036831;BC028075;CH471133;NM_012072;U94333 AAB53110;AAH28075;ABM81981;ABM85160;BAD93132;BAG61784;CAC82720;CAL38160;CAL38627;EAX10171;NP_036204;Q9NPY3 Hs.97199 1661514;1665011;1690079;1795454;2128663 C1QR1_1469;D20S1017;RH48371;RH91421;STS-W72082 C1QR1;C1qR;C1qR(P);C1qRP;CDw93;ECSM3;MXRA4;dJ737E23.1 C1q receptor 1;C1q/MBL/SPA receptor;CD93 antigen;OTTHUMP00000030419;complement component 1 q subcomponent receptor 1;complement component 1, q subcomponent, receptor 1;complement component C1q receptor;matrix-remodeling-associated protein 4;matrix-remodelling associated 4 APPROVED protein-coding ENSG00000125810 HGNC:15855 00396 120577 REVIEWED 1344139 CD99 CD99 molecule The protein encoded by this gene is a cell surface glycoprotein involved in leukocyte migration, T-cell adhesion, ganglioside GM1 and transmembrane protein transport, and T-cell death by a caspase-independent pathway. In addition, the encoded protein may have the ability to rearrange the actin cytoskeleton and may also act as an oncosuppressor in osteosarcoma. Cyclophilin A binds to CD99 and may act as a signaling regulator of CD99. This gene is found in the pseudoautosomal region of chromosomes X and Y and escapes X-chromosome inactivation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2013] X X;Y X;Y p22.32 and Yp11.3 6889623 6939779 + 2609228 2659350 + 2691187 2741309 + 1580863;6480464 10941840;11290771;12172043;12216109;12477932;12508122;12526082;12681511;12832073;14623115;14646598;14744088;15184883;15359120;15388255;15469477;15489334;15528994;15716602;16189514;16361803;16421247;16614706;16713569;16825498;16984917;17202377;17213182;17464179;17471235;17652531;18552083;18849489;19289593;19307784;19723899;19901887;20184665;20197622;20217126;20453109;20483773;21139048;21196719;21267687;21566515;21775056;21890473;21988832;22020966;22083306;22189791;22392539;22505724;22781601;22864685;22986530;23145531;23152061;23333754;23644663;23743627;24094957;24341229;2456574;2465491;2479542;24798881;2877492;2934738;3442403;3460334;3472717;4058580;4065101;6540985;7464908;7506950;9278313;9670951;9720506 4267 A6NGF6;A6NJT9;A8MQT7;H7C2F2;P14209 ABBA01038608;ABBA01038609;AC006209;AK313617;AMYH02038711;BC002584;BC003147;BC010109;BC021620;BC024310;CH471074;CR450286;DT216927;HI179154;J03841;JC231896;M16279;NG_009174;NM_001122898;NM_001277710;NM_002414;U82164;X16996;XM_005274530;XM_005274532;XM_005274533;XM_005274534;XM_005274535;XM_005274794;XM_005274796;XM_005274797;XM_005274798;XM_005274799;XM_006724489;XM_006724490;XM_006724491;XM_006724870;XM_006724871;XM_006724872 AAA02999;AAA59848;AAB58501;AAH02584;AAH03147;AAH10109;AAH21620;AAH24310;ABM82838;BAG36379;CAA34863;CAG29282;CBX53885;CDM22290;EAW98697;EAW98698;EAW98699;EAW98700;NP_001116370;NP_001264639;NP_002405;P14209;XP_005274587;XP_005274589;XP_005274590;XP_005274591;XP_005274592;XP_005274851;XP_005274853;XP_005274854;XP_005274855;XP_005274856;XP_006724552;XP_006724553;XP_006724554;XP_006724933;XP_006724934;XP_006724935 Hs.653349 1338178;1688851;1703138;1732463;1742157;1742923;1743233;2143157;2188091;2188097;2188107;2217130 CD99_2912;DXYS228;DXYS75;G66051;G66054;G66059;GDB:192493;GDB:215809;GDB:309156;MIC2;RH38670;WI-8991 12E7;HBA71;MIC2;MIC2X;MIC2Y;MSK5X CD99 antigen;E2 antigen;MIC2 (monoclonal antibody 12E7);OTTHUMP00000022840;OTTHUMP00000022842;OTTHUMP00000022843;OTTHUMP00000022844;T-cell surface glycoprotein E2;antigen identified by monoclonal 12E7, Y homolog;antigen identified by monoclonal antibodies 12E7, F21 and O13;surface antigen MIC2 APPROVED protein-coding ENSG00000002586 HGNC:7082 02434;02465 313470;450000 REVIEWED 735542 CD99L2 CD99 molecule-like 2 This gene encodes a cell-surface protein that is similar to CD99. A similar protein in mouse functions as an adhesion molecule during leukocyte extravasation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X X q28 150182357 150315225 - 149934809 150067289 - 150766336 150898816 - 6480464 11076863;11230166;12477932;12706889;12975309;14702039;15489336;16381901;18163232;21963094;24250222 83692 B4DHP9;H0Y4H3;Q8TCZ2 ABBA01037155;ABBA01037156;ABBA01037157;ABBA01037158;ABBA01037159;ABBA01037160;ABBA01037161;ABBA01037162;ABBA01037163;ABBA01037164;ABBA01037165;ABBA01037166;ABBA01037167;ABBA01037168;AF002223;AF274573;AK023776;AK024278;AK098810;AK125020;AK126859;AK290200;AK291375;AK293244;AK295217;AL136580;AMYH02040770;AMYH02040771;AMYH02040772;AMYH02040773;AMYH02040774;AY078165;AY078166;AY078167;AY358837;BC007569;BC013029;BC019857;BC025729;BC030536;CH471169;DC323066;KF459479;NG_021320;NM_001184808;NM_001242614;NM_031462;NM_134445;NM_134446;XM_005274758;XM_006724849 AAH07569;AAH13029;AAH25729;AAH30536;AAL86617;AAL86618;AAL86619;AAQ89196;ABM82248;ABM85432;BAF82889;BAF84064;BAG54124;BAG56778;BAG58211;CAB66515;CAL38481;CAL38661;EAW99389;EAW99390;EAW99391;EAW99392;EAW99393;EAW99394;EAW99395;EAW99396;NP_001171737;NP_001229543;NP_113650;NP_604394;NP_604395;Q8TCZ2;XP_005274815;XP_006724912 Hs.522805 1669084;1702420;1703140;1846996;2141484;2186345;5095086 A007J06;CD99L2;DXS903;DXS911;RH78121;WI-12644;WI-4154 CD99B;DKFZp761H2024;MIC2L1 CD99 antigen-like protein 2;MIC2 like 1;MIC2-like protein 1;OTTHUMP00000026059;OTTHUMP00000026060;OTTHUMP00000214875 APPROVED protein-coding ENSG00000102181 HGNC:18237 300846 REVIEWED 1348574 CDAN2 congenital dyserythropoietic anemia, type II ASSOCIATED WITH Anemia, Dyserythropoietic, Congenital (inferred) 7240710 9345103 980 HGNC:1714 224100 1350236 CDAN3 congenital dyserythropoietic anemia, type III ASSOCIATED WITH Anemia, Dyserythropoietic, Congenital (inferred) 7240710 7711721 981 1334614;7186364 D15S114;D15S125 HGNC:1715 105600 1351187 CDB2 corneal dystrophy of Bowman's layer type II (Thiel-Behnke) ASSOCIATED WITH Corneal dystrophy, Thiel-Behnke type (inferred) 7240710 9403072 982 1337532;2127482 D10S1239;D10S1671 HGNC:1716 602082 1313717 CD97 CD97 molecule This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011] 19 19 19 p13 14386354 14413665 + 14491403 14519537 + 14380591 14408725 + 1580863;2317573;6480464;8554872 12428789 10540231;11037979;11297558;11380941;12414513;12417446;12477932;12829604;14647991;14702039;15057824;15231747;15489334;15498814;15576472;16273233;16344560;16712791;16818763;16929497;17449467;17474147;18267122;18329191;18976975;19428565;19737555;19913121;19946888;20167235;20237496;20339853;20428763;20628086;21156175;21906983;21963094;21978933;22210915;22313360;22547928;22768192;22797060;23658650;23771909;23838008;7636245;8125298;8786105;8955192;9064337;9135025;9764855 976 K7EKV5;K7ELE5;K7EPE8;K7EPP8;P48960 AB065966;ABBA01029670;ABBA01029671;ABBA01029672;ABBA01029673;ABBA01029674;ABBA01029675;AC008569;AI890331;AK097264;AK225655;AK225677;AK292159;AK300343;AK304553;AK308368;AK314697;AMYH02035615;AMYH02035616;AMYH02035617;AU117846;AX775807;AX775809;AX775811;AX775813;AY545551;BC026690;BM545710;CB127827;CH471106;DC381605;DC414739;HI574004;HI574006;HI574008;JC231894;NG_029253;NM_001025160;NM_001784;NM_078481;U76764;X84700;X94630;XM_005260170;XM_005260171;XM_005260172 AAB36682;AAH26690;BAC06178;BAF84848;BAG37246;BAG53442;BAG62088;BAG65348;CAA59173;CAA64333;CAE11603;CAE11604;CAE11605;CAE11606;CBX47491;CBX47492;CBX47493;CDM22289;EAW84412;EAW84413;NP_001020331;NP_001775;NP_510966;P48960;XP_005260227;XP_005260228;XP_005260229 Hs.466039 1661759;1728629;1769790;2106983;2165592;2175756 CD97_3201.2;G29823;G63606;RH12356;RH79172;STS-X84700 TM7LN1 CD97 antigen;leukocyte antigen CD97;seven transmembrane helix receptor;seven-span transmembrane protein;seven-transmembrane, heterodimeric receptor associated with inflammation APPROVED protein-coding ENSG00000123146 HGNC:1711 03130 601211 REVIEWED 3004586 CD99P1 CD99 molecule pseudogene 1 INTERACTS WITH all-trans-retinoic acid; arsenous acid; diarsenic trioxide X X;Y X;Y p22.33;Yp11.31 6807245 6855555 + 2527306 2575270 + 2609265 2657229 + 6480464 11181995;12477932;14702039;7833914 401577 ABBA01038606;AC097314;AK023533;AK125149;AMYH02038710;BC019893;CH471074;NR_033380;NR_033381 EAW98695 Hs.444541 CD99L1;CXYorf12;FLJ43159;MIC2R;NCRNA00103 APPROVED pseudo ENSG00000223773 HGNC:7083 VALIDATED 1323516 CDADC1 cytidine and dCMP deaminase domain containing 1 ENCODES a protein that exhibits hydrolase activity (inferred); zinc ion binding (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH arsane; arsenic atom; benzo[a]pyrene 13 13 13 q14.2 30877932 30923465 + 49822047 49867622 + 49247911 49293486 + 6480464 11752456;12477932;16344560;16955368 81602 F2Z2H0;F2Z2J8;H0Y447;Q9BWV3 ABBA01051015;AK297400;AK312835;AL137554;AL138875;AMYH02028010;AV648588;AY027525;BC009562;BC022801;BC032889;BC048092;BC070238;BC092434;BC125202;BC125203;CH471075;DA400049;DA560379;NM_001193478;NM_030911;NR_036439;XM_006719871;XM_006719872;XM_006719873;XM_006719874;XM_006719875 AAH09562;AAH32889;AAH48092;AAH70238;AAH92434;AAI25203;AAK16745;BAG35689;BAG59840;CAB70808;EAX08815;EAX08816;EAX08817;EAX08818;EAX08819;NP_001180407;NP_112173;Q9BWV3;XP_006719934;XP_006719935;XP_006719936;XP_006719937;XP_006719938 Hs.388220 1684142;1700298;1847083;1847222;2187022 D5S2649;RH103768;RH98518;STS-AA040034;WI-13561 MGC150615;MGC41774;MGC57136;NYD-SP15;RP11-103J18.2;bA103J18.1 OTTHUMP00000018405;cytidine and dCMP deaminase domain-containing protein 1;protein kinase NYD-SP15;testis development protein NYD-SP15 protein-coding ENSG00000102543 HGNC:20299 16693 VALIDATED 1315579 CDAN1 codanin 1 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] 15 15 15 q15.2 19783515 19796376 - 43015760 43029417 - 42723562 42737219 - 1600473;6480464;7240710;8554872;8699517 12434312 12477932;12975309;15489334;16169070;16767397;17353931;18081704;18464913;18575862;19336738;20301759;21364188;22407294;22863883;23716552;24196372;24250222;24816145;8634422 146059 H3BM60;H3BPZ6;Q8IWY9 ABBA01038365;AC090510;AF525398;AL133019;AMYH02030291;BC001092;BC008333;BC008334;BC052568;BC066640;BC113821;CH471125;NG_012491;NM_138477;XM_005254176;XM_005254177;XM_005254178;XR_429444 AAH01092;AAH08333;AAH08334;AAH52568;AAH66640;AAO14994;EAW92576;EAW92577;EAW92578;EAW92579;NP_612486;Q8IWY9;XP_005254233;XP_005254234;XP_005254235 Hs.599232 1650657;1665669;2132532;2191345 D15S637E;D15S896;MARC_17743-17744:1031760523:1;SHGC-24154 CDA1;CDAI;CDAN1A;DLT;PRO1295 codanin-1;congenital dyserythropoietic anemia, type I;discs lost homolog APPROVED protein-coding ENSG00000140326 HGNC:1713 08470 224120;607465 REVIEWED 1322377 CDA cytidine deaminase This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq, Jul 2008] 1 1 1 p36.2-p35 19239772 19269752 + 20915444 20945401 + 20588951 20618908 + 1580863;2316364;2316365;6480464;6907045;8554872 17194903;18347182 10497201;12107413;12113294;12477932;12651944;12844405;14565460;14565461;14744791;14983087;15489334;15689149;15713780;16169070;16303324;16304576;16446974;16507781;16710414;17207965;17464349;17479107;17640070;18537153;18538445;18600531;18762567;18775979;19035178;19293806;19458626;19536092;19889077;19898482;19941076;20028759;20045991;20173083;20196672;20211060;20213492;20453000;20563566;20608756;20637228;20665488;20890066;21325291;21332653;21538122;21625252;21652582;21858090;21963094;21987572;22052224;22304580;22546611;22592598;22884143;22939629;23033855;23651026;23736036;23837479;23995783;24183806;53069;7923172;8001985;8422236;9596658;9878810 978 P32320;Q71UE9 ABBA01059784;ABBA01059785;ABBA01059786;ABBA01059787;AF061655;AF061656;AF061657;AF061658;AF095644;AJ000474;AL391357;AMYH02000430;AY634312;BC048284;BC054036;CD675458;CH471134;L27943;NM_001785;S52873 AAA57254;AAB24946;AAC69599;AAD15828;AAH54036;AAT47715;ADQ33051;CAA04113;EAW94931;EAW94932;EAW94933;NP_001776;P32320 Hs.466910 1660558;1853816;2110309;2184805;5117092 AL009683;CDA__4531;D13S1652;GDB:435475;SHGC-74413 CDD OTTHUMP00000002883;cytidine aminohydrolase;cytosine nucleoside deaminase;small cytidine deaminase APPROVED protein-coding ENSG00000158825 HGNC:1712 11744 123920 REVIEWED 1322476 CDC14B cell division cycle 14B The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 9 9 9 q22.3 69703970 69823685 - 99252807 99382112 - 96490218 96619830 - 1580863;6480464;6907045 10644693;11901424;12134069;12477932;12697818;12853468;15362113;15899858;15911625;16344560;18029348;18239684;18418058;18458157;18547142;18662541;19686743;20479464;21301228;21379580;22784093;24619757;8125298;9367992 8555 H0Y577;H7C3U8;O60729;Q5JU07 ABBA01043578;ABBA01043579;ABBA01043580;ABBA01043581;ABBA01043582;ABBA01043583;AF023158;AF064104;AF064105;AK126388;AK225361;AL133477;AL353578;AMYH02021299;AY675321;BC050013;CH471174;DA943563;EF611343;NM_001077181;NM_003671;NM_033331;XM_005252286;XM_005252287;XM_005252288;XR_242602;XR_242603 AAB88293;AAC16661;AAC16662;AAI56667;AAT70726;ABR12627;BAG54321;EAW92658;EAW92659;NP_001070649;NP_003662;NP_201588;O60729;XP_005252343;XP_005252344;XP_005252345 Hs.40582 1659741;1700328;1715673;2117964;2121887;2133075;2153782;2173974;5015861;5015881;5020936;5037552;7185938 D10S16;D8S2279;D9S1011E;D9S1145;GDB:335751;RH103784;RH119282;RH65524;SGC35176;SGC38141;STS-H84156;STS-N29550 CDC14B3;Cdc14B1;Cdc14B2;hCDC14B CDC14 cell division cycle 14 homolog B;OTTHUMP00000021729;OTTHUMP00000021730;OTTHUMP00000021732;OTTHUMP00000215877;OTTHUMP00000215878;OTTHUMP00000215879;dual specificity protein phosphatase CDC14B APPROVED protein-coding ENSG00000081377 HGNC:1719 04615 603505 REVIEWED 1604976 CDC14C cell division cycle 14C ENCODES a protein that exhibits protein tyrosine phosphatase activity (inferred); protein tyrosine/serine/threonine phosphatase activity (inferred); INVOLVED IN peptidyl-tyrosine dephosphorylation (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol 7 7 7 p12.3 49065688 49068017 + 48964157 48967049 + 48924561 48927453 + 6480464 12477932;16201836;18547142;23400010 168448 A4D256 ABBA01008187;AC006024;AMYH02015671;BC028690;BC068452;CH236955;DQ120635;NR_003595 A4D256;ABB92421;EAL23905;EAL23906 Hs.567757 CDC14B2;CDC14Bretro;MGC26484 APPROVED pseudo HGNC:22427 PROVISIONAL 733862 CDC123 cell division cycle 123 INVOLVED IN regulation of mitotic cell cycle (ortholog); FOUND IN cytoplasm; INTERACTS WITH paracetamol; resveratrol; trans-resveratrol 10 10 10 p13 12167494 12221810 + 12237961 12292589 + 12195962 12250590 + 632556;6480464 8601400 10942595;12477932;14702039;15164054;15231748;15319434;15342556;15489334;16385451;18372903;18567820;18591388;18714373;18781797;19020323;19020324;19139842;19247373;19502414;19602701;19670153;19720844;19741467;19794065;19833888;19933996;20075150;20161779;20379614;20490451;20571754;20712903;20816152;20862305;20879858;20889853;20927120;21139048;21890473;21906983;21909839;21946350;21963094;21987572;22053931;22923468;22939629;22961080;23000965;23284291;8125298;9683532 8872 H7BZW7;O75794;X6RA30;X6RF82;X6RKY7 ABBA01034664;ABBA01034665;ABBA01034666;ABBA01034667;AK023925;AK225634;AK289362;AK308790;AL512770;AMYH02022143;AW006077;BC001600;BC009598;BP367374;CH471072;CR456966;D14878;NM_006023;U27112;XM_005252638 AAC34738;AAH01600;AAH09598;BAA03593;BAF82051;CAG33247;EAW86317;EAW86318;NP_006014;O75794;XP_005252695 Hs.412842;Hs.703246 1850631;5022578;5037552 D1S1423;D8S2279;WI-11468 C10orf7;D123;FLJ13863;HT-1080;PZ32 OTTHUMP00000019106;OTTHUMP00000019108;OTTHUMP00000019110;cell division cycle 123 homolog;cell division cycle protein 123 homolog APPROVED protein-coding ENSG00000151465 HGNC:16827 12586 VALIDATED 1312211 CDC14A cell division cycle 14A The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p21 99079156 99246987 + 100810598 100985833 + 100351740 100520277 + 6480464;6907045;8554872 10409437;10644693;11598127;11901424;12134069;12477932;14968112;15263015;15489334;15911625;16221885;16344560;16712791;16760464;16784539;17172867;17371873;17623655;18029348;18235225;19152073;20379614;20477815;20479464;20508983;20956543;21233601;22020438;22117071;22784093;23051732;8889548;9367992 8556 C9JSP6;Q59EF4;Q9UNH5 AA929031;AB209857;ABBA01045439;AC104457;AF000367;AF064102;AF064103;AF122013;AK302310;AK310292;AK310657;AL589990;AMYH02001555;AMYH02001556;AMYH02001557;AMYH02001558;AMYH02001559;AY623111;BC038979;BC071578;BC093916;BC093918;BU609013;CB156695;CH471097;DA461435;DA885382;DQ530256;NM_003672;NM_033312;NM_033313;XM_005271294;XM_005271296 AAB88277;AAC16659;AAC16660;AAD49217;AAH38979;AAH93916;AAH93918;AAT38107;ABF74568;BAD93094;BAG63648;EAW72956;EAW72957;EAW72958;EAW72959;EAW72960;NP_003663;NP_201569;NP_201570;Q9UNH5;XP_005271351;XP_005271353 Hs.127411 1665789;1687365;1715113;1756689;1761135;1795528;2117252;2149486;2167971 A008M41;AFMa109wh5;AL009775;CDC14A_422;RH119509;RH92716;SHGC-143777;SHGC-145140;SHGC-75230 cdc14;hCDC14 CDC10 (cell division cycle 10, S. cerevisiae, homolog);CDC14 cell division cycle 14 homolog A;OTTHUMP00000012653;OTTHUMP00000012654;OTTHUMP00000012655;OTTHUMP00000012656;dual specificity protein phosphatase CDC14A APPROVED protein-coding ENSG00000079335 HGNC:1718 04614 603504 REVIEWED 731833 CDC20 cell division cycle 20 CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008] 1 1 1 p34.1 42106780 42111028 + 43824626 43828874 + 43358955 43363203 + 632471;1580863;6480464;6907045 7513050 10318877;10366450;10377410;10679238;10700282;10799291;11030144;11274370;11285280;11389834;11438673;11459825;11459826;11535616;11553328;11562349;11702782;11707408;11742988;11751633;11804586;11891222;11907259;11976684;11988738;12070128;12196507;12198152;12456649;12477932;12791267;12887895;12956947;14561775;14593737;14607335;14657031;14701726;14743218;15014502;15280373;15388328;15469984;15489334;15525512;15623561;15694304;15701830;15761153;15916961;15923616;16287863;16319895;16455800;16479161;16497171;16525508;16572426;16710414;16751065;16777988;16795040;17353931;17360335;17388661;17403670;17443180;17443186;17598981;17609108;17679094;17719540;17873905;17908926;18022367;18059335;18162579;18354482;18372912;18471975;18591651;18592005;18794143;18953566;18997788;19098431;19117984;19154722;19167333;19197151;19282672;19336002;19426592;19477924;19483727;19738611;19820702;19822757;19826003;20053638;20054826;20064487;20081372;20200358;20360068;20383333;20512932;20526282;20624902;20663873;20729194;20733051;20733055;20739533;20937767;20948288;21139048;21145461;21335556;21336306;21407176;21439932;21454660;21525009;21596315;21725316;21743465;21772247;21832049;21874044;21890473;21903591;21906983;21926987;21937719;21963094;21987572;22000412;22014574;22086178;22100920;22193957;22280307;22322943;22340593;22426463;22475564;22505724;22566641;22692537;22990118;23000965;23007861;23078409;23091007;23160376;23239745;23288039;23318449;23405241;23443559;23455922;23643811;23695679;23754430;23758705;23775192;23791783;23979597;23995871;24163370;24581499;24654937;24747134;24811168;24816145;24853182;24871945;24906885;24930963;25012665;25043029;25092294;8125298;9353311;9628895;9637688;9682218;9734353;9736712;9811605 991 B4E1H5;Q12834 ABBA01050956;AF099644;AK225504;AK302539;AK303844;AK312780;AL139289;AMYH02000898;BC000624;BC001088;BC006272;BC009425;BC009426;BC010044;BC012803;BC012827;BC013303;BC015998;BC024257;BC031294;BC110321;BT007388;CH471059;DQ473545;NM_001255;U05340 AAA19017;AAD16405;AAH00624;AAH01088;AAH06272;AAH09425;AAH09426;AAH10044;AAH12803;AAH12827;AAH13303;AAH15998;AAH24257;AAH31294;AAI10322;AAP36052;ABE96834;ABM83216;ABM86415;ACE86546;ACE87227;BAG35643;BAG63811;BAG64787;EAX07101;EAX07102;NP_001246;Q12834 Hs.524947 1653959;1683477;2120668;2141046;2151793 A004O43;RH12828;RH67938;RH98782;STS-U05340 CDC20A;MGC102824;bA276H19.3;p55CDC CDC20 cell division cycle 20 homolog;OTTHUMP00000008571;OTTHUMP00000008572;cell cycle protein p55cdc;cell division cycle 20 homolog;cell division cycle protein 20 homolog APPROVED protein-coding ENSG00000117399 HGNC:1723 04686 603618 REVIEWED 1602643 CDC20B cell division cycle 20B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; cyclosporin A 5 5 5 q11.2 51361686 51421844 - 54408799 54469005 - 55112971 55173177 - 6480464;8554872 12477932;14702039;16344560 166979 Q86Y33 AB077043;AB077044;AB081750;AB086378;ABBA01015736;ABBA01015737;AC091977;AI471861;AK095246;AMYH02011309;BC037547;BC136572;CH471123;DA434860;DB237622;NM_001145734;NM_001170402;NM_152623 AAH37547;AAI36573;BAB97393;BAC04508;BAC67701;BAC67702;BAC67705;EAW54901;EAW54902;EAW54903;EAW54904;EAW54905;EAW54906;EAW54907;NP_001139206;NP_001163873;NP_689836;Q86Y33 Hs.669184 1731369;2125206;2161488;2184026;5019395;5022651;7184802 D11S2921;D18S21;PMC152543P1;SGC34842;STS-N22158;STS-N33071 FLJ37927;G6VTS76519 CDC20 cell division cycle 20 homolog B;CDC20-like protein;OTTHUMP00000161831;OTTHUMP00000222381;OTTHUMP00000222382;OTTHUMP00000222383;cell division cycle 20 homolog B;cell division cycle protein 20 homolog B APPROVED protein-coding ENSG00000164287 HGNC:24222 13428 VALIDATED 1605274 CDC20P1 cell division cycle 20 pseudogene 1 9 9 9 q21.33 60198117 60199750 + 89626489 89628125 + 87011574 87013210 + 9682218 157956 ABBA01016315;AL513318;AMYH02021159;NG_001560 2120668;2151793 RH67938;STS-U05340 CDC20P APPROVED pseudo HGNC:29487 INFERRED 1323559 CDC25C cell division cycle 25C This gene is highly conserved during evolution and it plays a key role in the regulation of cell division. The encoded protein is a tyrosine phosphatase and belongs to the Cdc25 phosphatase family. It directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It is also thought to suppress p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described, however, the full-length nature of many of them is not known. [provided by RefSeq, Jul 2008] 5 5 5 q31 133741791 133788347 - 137620959 137674064 - 138285265 138338355 - 1580863;2774210;4105450;4105452;4105448;2729590;4105453;2756028;4105455;2776427;6480464;6907045 12124347;12896904;12931023;15289842;15567944;16000564;16140946;17460776;20500813 10037602;10330186;10557092;10681541;10740819;10744722;10853038;10864927;11016625;11063929;11078813;11139144;11202906;11304565;11333986;11337467;11389730;11390642;11438675;11531413;11551930;11559705;11604498;11691994;11836499;11842186;11896603;11897663;11925443;11933156;11969417;12024051;12099692;12175337;12234927;12386164;12402044;12477932;12595692;12660173;12766774;12791985;12857880;12909615;12937170;12941695;1386342;14532005;14702039;14968113;14972559;15142382;15150265;15161933;15265780;15284440;15319445;15489334;15574328;15629715;15638722;15705874;15708996;15735702;15766665;15791647;15887239;16191191;16205633;16330544;16344560;16356754;16582488;16582626;16648550;16649252;16705183;16751065;16753148;16807237;16964243;16968750;1703321;17035231;17097061;17110335;17349584;17382881;17419986;17548228;17591782;17611691;18056802;18160429;18161793;18272572;18272575;1828290;1836978;18371353;18384749;18445273;18464119;18551998;18604163;18676680;18838868;19074854;19074885;19170196;19275586;19275588;19330022;19458171;19473963;19503101;19597481;19625176;19626602;19692168;20012529;20025242;20228808;20360007;20360068;20453000;20508983;20514472;20668692;21139048;21189416;21318276;21379580;21750987;2195549;21963094;21987572;22021033;22360685;22394631;22842784;22843362;23567337;23600770;23637932;24002546;24032677;24158819;24255178;24626146;7474100;7479023;7494303;8119945;8402895;8432534;8440392;8475101;9141461;9154803;9268380;9278511;9278512;9482729;9499405;9520381;9543386;9585407;9733650;9923681 995 D6RD20;D6RJC2;H0Y999;P30307 ABBA01068681;ABBA01068682;ABBA01068683;ABBA01068684;ABBA01068685;ABBA01068686;ABBA01068687;AC104116;AF086323;AF277723;AF277724;AF277725;AF277726;AF312681;AJ304504;AK097710;AK301828;AMYH02012289;AMYH02012290;AMYH02012291;AU098899;AU125025;AW512559;AY497474;BC019089;CH471062;DB040755;DB449713;DB516402;M34065;NM_001287582;NM_001287583;NM_001790;NM_022809;XM_005272145;XM_005272146;XM_006714739;XM_006714740;Z29077 AAA35666;AAG41885;AAG41886;AAG41887;AAG41888;AAH19089;AAL26835;AAR32098;ACE87029;ACE87715;BAG63273;CAC19192;EAW62145;EAW62146;EAW62147;EAW62148;EAW62149;EAW62150;NP_001274511;NP_001274512;NP_001781;NP_073720;P30307;XP_005272202;XP_005272203;XP_006714802;XP_006714803 Hs.656 1648787;2151177;2217134 CDC25C_3232;RH69126;STS-T96364 CDC25;PPP1R60 M-phase inducer phosphatase 3;OTTHUMP00000159489;OTTHUMP00000159490;OTTHUMP00000224012;OTTHUMP00000224013;OTTHUMP00000224016;dual specificity phosphatase CDC25C;mitosis inducer CDC25;phosphotyrosine phosphatase;protein phosphatase 1, regulatory subunit 60 APPROVED protein-coding ENSG00000158402 HGNC:1727 01146 157680 REVIEWED 1312892 CDC16 cell division cycle 16 This gene encodes a component protein of the APC complex, which is composed of eight proteins and functions as a protein ubiquitin ligase. The APC complex is a cyclin degradation system that governs exit from mitosis. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein and two other APC complex proteins, CDC23 and CDC27, contain a tetratricopeptide repeat (TPR), a protein domain that may be involved in protein-protein interaction. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 13 13 13 q34 95672733 95710522 + 115000320 115038150 + 114234845 114272675 + 6480464;6907045 10318877;10477750;10498862;10500174;10548110;10793135;10922056;11076961;11179667;11256614;11285280;11340163;11535616;11691834;11739784;11742988;12029633;12070128;12196507;12477932;12629511;12686615;12956947;14593737;14657031;14702039;15029244;15489334;16319895;16364912;16565220;16648845;16921029;16964243;17187060;17827148;18485873;18997788;19460752;19531213;19535905;19668213;19826003;20056645;20080579;20360068;20508983;20733055;21043528;21139048;21335556;21549307;21890473;21906983;21926987;21963094;21988832;22014574;22193957;22939629;22990118;23000965;23007861;23078409;23160376;23443559;23979597;24163370;25043029;7736578;9356466;9405394;9469815;9628895 8881 Q13042;Q5T8C6;Q7Z651 AB209850;ABBA01006266;ABBA01006267;AF164598;AK095082;AK296424;AK315302;AL160396;AL540490;AMYH02028757;AY599074;BC010875;BC017244;BC050575;CH471085;NM_001078645;NM_003903;U18291;XM_005266204;XM_005266206;XM_006719992;XM_006719993;XR_245358;XR_245359;XR_245360 AAC50200;AAD45156;AAH10875;AAH17244;AAS94323;BAD93087;BAG37707;BAG59086;EAX09237;EAX09238;EAX09239;EAX09240;EAX09241;EAX09242;EAX09243;EAX09244;EAX09245;NP_001072113;NP_003894;Q13042;XP_005266261;XP_005266263;XP_006720055;XP_006720056 Hs.374127 1340507;1662318;1672665;1732023;1738405;1742989;2116870;2131245;2134882;2171001;2171003;2182691;5017769;5019789 A001Y17;A009U45;CDC16;D13S1160;D13S1825;D13S327;D13S667E;G19778;G32861;G35279;GDB:229301;RH1616;RH47113;SHGC-10931 ANAPC6;APC6;CUT9 CDC16Hs;OTTHUMP00000018782;OTTHUMP00000018786;OTTHUMP00000018787;OTTHUMP00000018788;OTTHUMP00000178881;anaphase-promoting complex subunit 6;anaphase-promoting complex, subunit 6;cdc16 cell division cycle 16 homolog (s. cerevisiae);cell division cycle 16 homolog;cell division cycle protein 16 homolog;cyclosome subunit 6 APPROVED protein-coding ENSG00000130177 HGNC:1720 04587 603461 REVIEWED 1312484 CDC23 cell division cycle 23 The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008] 5 5 5 q31 133644626 133670286 - 137523337 137549032 - 138187648 138213343 - 1580863;6480464;6907045 10318877;10500174;10548110;10793135;10922056;11076961;11256614;11285280;11340163;11535616;11742988;12070128;12188893;12477932;12629511;12956947;14593737;14657031;15029244;15302935;15345747;15489334;16189514;16364912;16565220;16648845;16921029;16964243;17081983;17609108;17942546;18162579;18485873;18997788;19322201;19531213;20080579;20360068;21043528;21139048;21336306;21549307;21906983;21963094;21990323;22014574;22193957;22280307;22505724;22792066;22939629;22990118;23000965;23007861;23022380;23078409;23160376;23443559;23455924;23667531;23708001;23979597;24163370;24722188;25043029;8125298;9469815;9790767 8697 D6RBY8;D6RCF8;H0Y936;Q9UJX2 AB011472;ABBA01068689;ABBA01068690;ABBA01068691;ABBA01068692;AC106752;AF053977;AF191341;AK223250;AK291610;AK304635;AMYH02012284;AY603103;BC005258;BC010944;BC017713;BT009810;CH471062;NM_004661 AAC70920;AAF05755;AAH05258;AAH10944;AAH17713;AAP88812;AAS99353;ABM82612;ABM85796;BAA75628;BAD96970;BAF84299;BAG65414;EAW62154;EAW62155;EAW62156;NP_004652;Q9UJX2 Hs.73625 1669521;1674948;1678153;1735548;2184146;5017392 D5S1673E;RH44568;RH48461;RH48651;RH91186;WI-14323 ANAPC8;APC8;CUT23 OTTHUMP00000159484;anaphase promoting complex subunit 8;anaphase-promoting complex subunit 8;cdc23 (cell division cycle 23, yeast, homolog);cell division cycle 23 homolog;cell division cycle protein 23 homolog;cyclosome subunit 8 APPROVED protein-coding ENSG00000094880 HGNC:1724 07221 603462 REVIEWED 1604653 CDC25B cell division cycle 25B CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008] 20 20 20 p13 3838270 3848633 + 3767419 3786765 + 3786772 3806121 + 2739695;4105451;4105454;4105449;2729590;6480464;6907045 12569365;14559803;15550849;19383904;20500813 10403798;10444066;10543950;10713667;10740819;10822367;11333986;11516829;11689696;11780052;12107172;12400006;12477932;12527891;12681290;12764136;14702039;14767575;15003534;15024056;15128871;15150265;15173315;15311285;15456846;15489334;15629715;15845771;15908796;16082213;16191191;16341674;16344560;1662986;16861915;17003105;17018577;17106257;17292828;17332740;17336969;17353931;17548358;17554300;17591782;17599046;17651784;18060429;18089784;18160429;18235220;1828290;1836978;18559558;18635965;18676680;19170196;19308021;19615732;19625176;19638579;19692168;19738611;19801682;20025242;20128929;20176018;20360068;20508983;20801879;20956543;21091437;21242964;21254220;21363925;21558810;21640712;21709669;21807946;21890473;21906983;21963094;21987572;22017875;22132193;22318230;22631674;22721997;22797925;23160377;23708659;23840880;23908401;24109234;24234332;24344030;7644510;7667636;8276402;8440392;8468065;9141461;9188863;9268380;9278511;9585407;9733650 994 B3KS38;B4DIG0;B4DQZ3;B4DRC3;E1YMX4;G8JLH2;P30305;Q6MZW8 ABBA01053832;AF036233;AK092713;AK124284;AK295573;AK299028;AK299192;AL109804;AL561439;AMYH02036606;AMYH02036607;AY494082;BC006395;BC009953;BC051711;BM793120;BX640836;BX647988;CH471133;DA065196;DA107932;DB477384;FR695900;FR695901;M81934;NG_029040;NM_001287516;NM_001287517;NM_001287518;NM_001287519;NM_001287520;NM_001287522;NM_001287524;NM_004358;NM_021872;NM_021873;S78187;X96436;Z68092 AAA58416;AAB21139;AAB94622;AAB94623;AAB94624;AAB94625;AAH06395;AAH09953;AAH51711;AAR26469;BAG52600;BAG58472;BAG61105;BAG61235;CAA65303;CAA92108;CAE45909;CBX26628;CBX26629;EAX10491;EAX10493;EAX10494;EAX10496;EAX10498;EAX10499;EAX10500;EAX10501;NP_001274445;NP_001274446;NP_001274447;NP_001274448;NP_001274449;NP_001274451;NP_001274453;NP_004349;NP_068658;NP_068659;P30305 Hs.153752 1668754;2108719;2128827 CDC25B_1671.2;D20S1012;SHGC-30160 M-phase inducer phosphatase 2;OTTHUMP00000030137;OTTHUMP00000030138;OTTHUMP00000030139;dual specificity phosphatase Cdc25B APPROVED protein-coding ENSG00000101224 HGNC:1726 00307 116949 REVIEWED 1353454 CDC26P1 cell division cycle 26 pseudogene 1 7 7 7 q32.1 123846436 123847139 - 129049694 129050397 - 129409853 129410556 - 12690205 729948 ABBA01057635;AC009244;AMYH02016732;CH236950;NG_011774;NG_029180 1676748;1680393;1739195 D9S1647;RH27244;RH66343 CDC26P APPROVED pseudo HGNC:22770 INFERRED 1322746 CDC26 cell division cycle 26 The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. [provided by RefSeq, Jul 2008] 9 9 9 q32 86676902 86685483 - 116029288 116037869 - 113267008 113275589 - 1580863;6480464;6907045 10548110;10793135;10922056;11285280;11340163;11535616;11742988;12070128;12477932;12956947;14593737;14657031;15029244;15164053;15489334;16364912;17207965;18485873;19668213;20080579;20360068;21043528;21988832;22939629;23007861;23078409;23443559;23667531;23979597;24816145;25043029;8895471 246184 Q8NHZ8 ABBA01042690;AF503918;AL449305;AMYH02021508;BC042534;BC066300;BF244254;BQ446788;CA446805;CD685602;CH471090;NM_139286 AAH42534;AAH66300;AAM34207;ADQ32968;EAW87360;EAW87361;NP_644815;Q8NHZ8 Hs.727648 1676748;1680393;1682307;1739195 D9S1647;RH27244;RH46393;RH66343 ANAPC12;APC12;C9orf17 CDC26 subunit of anaphase promoting complex;OTTHUMP00000021952;anaphase promoting complex subunit 12;anaphase-promoting complex subunit 12;anaphase-promoting complex subunit CDC26;cell division cycle 26 homolog;cell division cycle protein 26 homolog APPROVED protein-coding ENSG00000176386 HGNC:17839 13012 614533 REVIEWED 3077626 CDC27P2 cell division cycle 27 pseudogene 2 Y Y Y p11.2 3365820 3367729 - 10027998 10029907 - 10190389 10192298 - 100130277 ABBA01031174;ABBA01031175;AC010970;NG_021910 APPROVED pseudo HGNC:38092 INFERRED 1312639 CDC27 cell division cycle 27 The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014] 17 17 17 q21.32 41645340 41716724 - 45195310 45266665 - 47117944 47189299 - 1580863;6480464;6907045;8554872 10037602;10318877;10477750;10498862;10500174;10548110;10793135;10922056;10939594;11076961;11256614;11285280;11340163;11524682;11535616;11691834;11707408;11742988;12070128;12097298;12196507;12429948;12477932;12686615;12797865;12853486;12956947;14561775;14593737;14657031;15029244;15082755;15252450;15280373;15342556;15489334;15916961;15923616;16344560;16364912;16479161;16510875;16565220;16648845;16921029;17187060;17360335;17403670;17474147;17609108;17679094;17719540;17827148;17942546;18029348;18059335;18372912;18471975;18485873;18573889;18662541;18794143;18997788;19098431;19483727;19531213;19615732;19822757;19826003;20080579;20081372;20360068;20395298;20467438;20508983;20663873;20729194;20733051;20733055;20937767;21043528;21139048;21209074;21241890;21335556;21336306;21454540;21454660;21525009;21549307;21596315;21743465;21890473;21906983;21926987;21937719;21963094;21986944;21988832;22014574;22045814;22100920;22139841;22193957;22280307;22792066;22939629;22942284;22990118;23000965;23007861;23022380;23029392;23078409;23160376;23239745;23265383;23287467;23383273;23443559;23583778;23643811;23670162;23754430;23755904;23776205;23874428;23923534;23972993;23979597;24073851;24163370;24239288;24302728;24324762;24576404;24699064;24781523;24811168;25012665;25043029;7736578;7756179;8234252;8619132;9356466;9405394;9469815;9499405;9618490;9628895;9637688;9734353;9736712;9811605 996 B4DL80;E9PRZ6;F6QPS0;G5EA36;I3L1K3;I3L225;I3L2Z8;I3L328;I3L394;I3L3G1;I3L3H6;I3L3Y5;K7EMA6;P30260 AA927469;ABBA01041118;AC002558;AK296881;AK299342;AMYH02033518;AMYH02033519;AU135593;AY518321;BC011656;BI548077;BP234964;CH471231;DQ786193;HY023336;NM_001114091;NM_001256;NM_001293089;NM_001293091;S78234;U00001;XM_005257892;XM_005257895;XM_006722217;XM_006722218;XM_006722219;XM_006722220;XM_006722221;XR_429935 AAA60471;AAB34378;AAH11656;AAR89911;ABM83706;ABM87026;BAG59442;BAG61343;EAW57686;EAW57687;EAW57688;EAW57689;NP_001107563;NP_001247;NP_001280018;NP_001280020;P30260;XP_005257949;XP_005257952;XP_006722280;XP_006722281;XP_006722282;XP_006722283;XP_006722284 Hs.463295;Hs.602766 1654709;1698594;1731643;1745951;1777373;1797374;1850225;1854755;2118278;2130713;2164144;2167197 A007J33;AI452358;CDC27_1878;D14S145;L18241;RH102849;RH46196;RH65445;STS-H82965;STS-S78234;T03706;WI-13636 ANAPC3;APC3;CDC27Hs;D0S1430E;D17S978E;H-NUC;HNUC;NUC2 CDC27 homolog;OTTHUMP00000232872;OTTHUMP00000232873;OTTHUMP00000232875;OTTHUMP00000232877;anaphase promoting complex subunit 3;anaphase-promoting complex subunit 3;anaphase-promoting complex, protein 3;cell division cycle 27 homolog;cell division cycle protein 27 homolog;nuc2 homolog APPROVED protein-coding ENSG00000004897 HGNC:1728 00304 116946 REVIEWED 8548259 CDC37L1-AS1 CDC37L1 antisense RNA 1 (head to head) 9 9 p24.1 4679082 4679527 - 4676720 4679527 - 101929351 ABBA01065420;AL136231;AMYH02019076;CK820219;CR737367;NR_121597;NR_121598;XR_242526;XR_242527;XR_250456;XR_252506;XR_252507 Hs.745404 ncrna HGNC:49735 VALIDATED 731492 CDC25A cell division cycle 25A CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p21 48147668 48178797 - 48198668 48230153 - 48157178 48188311 - 1580863;2743964;2764000;2729590;2734052;2771824;2296067;2754551;2715645;6480464;6907045 16951165;17145867;17283130;17638870;18299147;18974148;19555767;20500813 10373478;10373531;10454565;10454584;10740819;10766737;10827953;10926775;11106571;11139144;11298456;11416155;11584018;11585757;11752153;11805096;11912208;12110582;12234927;12388094;12399544;12411508;12477932;12676583;12676925;12738732;12759351;12791985;12801928;12963847;14517313;14559997;14603323;14657354;14673957;14681206;14727060;14752276;14767575;15161933;15311285;15489334;15572030;15798217;16189514;16191191;16338364;16598773;16644029;16720623;16912045;17001315;17018577;17172867;17292828;17545210;17671423;17676996;17912454;18029348;18073536;18160429;18167338;18204780;1828290;18316586;1836978;18480045;18495657;18566993;18676680;18794133;18927589;18980975;19013180;19060337;19062161;19170196;19289404;19305144;19367581;19417033;19477924;19615732;19621387;19625176;19692168;19738433;19738611;19833767;19966869;20090422;20217459;20228808;20348946;20368335;20379614;20453000;20462953;20606298;20614206;20639859;20956543;21344162;21575861;21670150;21832049;21900206;21906983;21963094;21988832;22017875;22065597;22160829;22417828;22435685;22467868;22505724;22705122;22843495;23240008;23314229;23467652;23675485;23708659;23730206;24211536;24269534;24429874;24939300;7644510;7667636;7744247;8276402;8617791;8668211;9230211;9278511;9466490;9604936;9707427;9779991;9858615;9891079;9989807 993 C9JFR5;C9JH94;D8KXX0;K7N7S0;P30304 ABBA01024656;AC104190;AC124916;AF112978;AF277722;AF527417;AI917350;AJ242714;AK290554;AMYH02006712;AY137580;BC007401;BC018642;BQ065803;BX392016;CH471055;EU812118;FJ866789;M81933;NM_001789;NM_201567;XM_006713434;XM_006713435;XM_006713436 AAA58415;AAG41884;AAH07401;AAH18642;AAM77917;AAN11305;ABM81679;ABM83845;ABM87167;ACI43572;ACZ05628;BAF83243;EAW64849;EAW64850;EAW64851;EAW64852;NP_001780;NP_963861;P30304;XP_006713497;XP_006713498;XP_006713499 Hs.437705 1688062;1743105;1769417;1797372;2120080;2133046 CDC25A_518.2;D3S4167;D3S4246;GDB:252110;RH11459;RH80886 CDC25A2 CDC25 isoform A1-CAG;CDC25A2-CAG isoform;M-phase inducer phosphatase 1;OTTHUMP00000164816;OTTHUMP00000164817;dual specificity phosphatase CDC25A APPROVED protein-coding ENSG00000164045 HGNC:1725 00305 116947 REVIEWED 3539738 CDC27P1 cell division cycle 27 pseudogene 1 2 2 2 q21.2 126738109 126740015 + 133018761 133020667 + 132261188 132263094 + 647696 ABBA01028221;AC097532;AMYH02004814;NG_021586 1731643 D14S145 APPROVED pseudo HGNC:38091 INFERRED 6481123 CDC42-IT1 CDC42 intronic transcript 1 (non-protein coding) p36.12 100874292 AF086337;AL031281 Hs.684696 ncrna HGNC:41317 2303454 CDC37P2 cell division cycle 37 pseudogene 2 16 16 16 p11.2 28093328 28094572 + 28425095 28426339 + 28413774 28415018 + 11413142 647015 ABBA01015958;AC138894;AMYH02031786;NG_009466 1738823 D16S2882 APPROVED pseudo HGNC:35453 INFERRED 2303436 CDC37P1 cell division cycle 37 pseudogene 1 16 16 16 p11.2 28093257 28094690 + 28711497 28712932 - 28700176 28701611 - 10493829;12477932;15616553 390688 AC002544;AC145285;AMYH02031800;NG_009463 AAC27427 1738823 D16S2882 A-761H5.2 APPROVED pseudo HGNC:34406 INFERRED 1319564 CDC37L1 cell division cycle 37-like 1 CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008] 9 9 9 p24.1 4602076 4629102 + 4679566 4706594 + 4679566 4706594 + 1580863;6480464 11413142;12477932;15840729;15850399;17207965;18052042;19322201;19875381;21988832;22863883;25036637;8125298 55664 B1AL69;Q7L3B6 ABBA01065420;AK000497;AK000646;AK225510;AL136231;AMYH02019076;AMYH02019077;BC014133;CH471071;KF458893;NM_017913 AAH14133;ADQ31696;BAA91206;BAA91304;EAW58782;NP_060383;Q7L3B6 Hs.666439 1644190;1857247;2114048;2116202;2189483 AB050415;MARC_7349-7350:992008364:1;RH15867;RH66324;WI-19289 CDC37B;FLJ20639;HARC;RP11-6J24.5 CDC37 cell division cycle 37 homolog-like 1;Hsp90-associating relative of Cdc37;OTTHUMP00000021001;OTTHUMP00000021002;cell division cycle 37 homolog (S. cerevisiae)-like 1;cell division cycle 37 homolog-like 1;hsp90 co-chaperone Cdc37-like 1 APPROVED protein-coding HGNC:17179 07120 610346 VALIDATED 1313428 CDC34 cell division cycle 34 The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 275911 286006 - 531720 542087 + 531720 542092 + 1580863;6480464;6907045 10329681;10373550;10385629;10531035;10713156;10748083;10769200;10871850;10918611;11032804;11054541;11245432;11463388;11546811;11566883;11675391;11689688;12037680;12060736;12435635;12477932;12565873;12813041;12840033;14532120;14578910;14645576;14671314;14690596;14722266;14980219;15327770;15489334;15611064;15652359;16123592;16210246;16322693;16338364;16472766;16774918;16861890;16874460;17274640;17461777;17550899;17597759;17698585;17785450;17965458;18029348;18239684;18458088;18851830;18950845;19073596;19084516;19112177;19123975;19126550;19240061;19256485;19471022;19549727;19581926;19615732;19875449;19933270;19945379;20061386;20081843;20160477;20347421;20353940;20378537;20379614;20596027;20638939;20639865;20663873;20864041;21098119;21130766;21139048;21220517;21296085;21841822;21890473;21906983;21963094;22017877;22053931;22069333;22087249;22113614;22145905;22190037;22210895;22286100;22334663;22496338;22669845;22711876;22748924;22863883;22959436;23000965;23250430;23261596;23297342;23465077;23478441;23589337;23604317;23624912;23910095;23972993;24129577;24250222;24316736;24816145;24912152;2842867;8248134;8576261;8939846;9367342;9430629;9710583 997 P49427;U3KPV8;U3KQ77;U3KQP9 ABBA01002568;AC011531;AC011556;AK291554;AMYH02035112;AMYH02035113;AY650399;BC002332;BC009850;BC018143;BC023979;BT006659;CH471242;L22005;NM_004359;XM_005259690;XM_006722952 AAC37534;AAH09850;AAH18143;AAH23979;AAP35305;AAT46688;ABM81664;ABM84836;ABM85578;BAF84243;EAW61190;EAW61191;NP_004350;P49427;XP_005259747;XP_006723015 Hs.514997 1690860;1730295;7184712 D19S236E;RH79792 E2-CDC34;UBC3;UBCH3;UBE2R1 cell division cycle 34 homolog;ubiquitin carrier protein;ubiquitin-conjugating enzyme E2 R1;ubiquitin-conjugating enzyme E2-32 KDA complementing;ubiquitin-conjugating enzyme E2-CDC34;ubiquitin-protein ligase R1 APPROVED protein-coding ENSG00000099804 HGNC:1734 00306 116948 REVIEWED 1316032 CDC40 cell division cycle 40 Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008] 6 6 6 q21 111248290 111300016 + 110501624 110553423 + 110180421 110232220 + 1580863;6480464;6907045 11102353;11991638;12226669;12477932;14574404;14702039;15489334;15761153;17081983;18976975;19420964;20360068;20508642;20614026;22365833;23084401;24457600;24816145;7568168;8125298;8889548;9303539;9524131;9769104;9830021 51362 O60508;Q5SRM9;Q5SRN1 AB208903;ABBA01026120;ABBA01026121;AF015044;AF038392;AF061241;AK001426;AK222721;AK295055;AK314601;AL671518;AMYH02014285;BC111061;BC117145;BC126114;CB242479;CH471051;NM_015891 AAC25166;AAC39730;AAD01552;AAI11062;AAI17146;AAI26115;ADR83227;BAD92140;BAD96441;BAG37172;BAG58104;EAW48319;EAW48320;EAW48321;EAW48322;EAW48323;EAW48324;NP_056975;O60508 Hs.428147 1797376 CDC40_2301 EHB3;FLJ10564;MGC102802;PRP17;PRPF17;hPRP17 EH-binding protein 3;OTTHUMP00000016996;OTTHUMP00000016997;OTTHUMP00000040437;PRP17 homolog;cell division cycle 40 homolog;cell division cycle 40 homolog (yeast);pre-mRNA splicing factor 17;pre-mRNA-processing factor 17 APPROVED protein-coding ENSG00000168438 HGNC:17350 05721 605585 REVIEWED 732258 CDC37 cell division cycle 37 The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 10396515 10408977 - 10501809 10514271 - 10391133 10403595 - 1580863;5131489;6480464 19934406 10022854;10409742;10617616;10858314;11036079;11076863;11085988;11256614;11413142;11864612;11867521;11916974;12176997;12437126;12471035;12477932;12489981;12907640;12930845;14668798;14676191;14701845;14718169;14743216;15001580;15082798;15344906;15489334;15489336;15592455;15643424;15647277;15850399;16132836;16156789;16196087;16280321;16306228;16321986;16381901;16611982;16949366;17054904;17223712;17353931;17620012;17709345;17728246;17979178;18003639;18029348;18089825;18359116;18367605;18781797;18922470;18931700;19026643;19073599;19091746;19615732;19786724;19858214;19875381;20056645;20159553;20299663;20305087;20462248;20562859;20642453;20663926;20697350;20811636;21139048;21151955;21163940;21360678;21367866;21487019;21675959;21833088;21860411;21871133;21875946;21890473;21900206;21903422;21906983;22199355;22268729;22315411;22451720;22612223;22674575;22727666;22729780;22810585;22863883;22912728;22939624;22939629;22952844;23000965;23128233;23281476;23383273;23402259;23428871;23443559;23455922;23569206;23584476;23956138;24379398;24608665;24816145;24869908;25015289;25027693;25036637;8666233;8703009;8885235;9150368;9242486;9660753;9685350 11140 K7EIU0;K7EJ06;K7EKQ2;K7EL68;K7EQA9;Q16543 ABBA01029932;AC011548;AC011557;AC134304;AMYH02035494;AMYH02035495;AY864824;BC000083;BC008793;BC127212;BC127213;BC141928;BC141929;BE796008;BT006796;CH471106;CR542249;NM_007065;U43077;U63131 AAB04798;AAB63979;AAH00083;AAH08793;AAI27213;AAI27214;AAI41929;AAI41930;AAP35442;AAW34362;ABM83100;ABM86295;CAG47045;CAL38163;CAL38227;EAW84101;EAW84102;EAW84103;NP_008996;Q16543 Hs.160958 1686044;2142520;2146513;2157739 D19S1108;RH101844;RH41901;RH80833 P50CDC37 CDC37 (cell division cycle 37, S. cerevisiae, homolog);CDC37 cell division cycle 37 homolog;cell division cycle 37 homolog;hsp90 chaperone protein kinase-targeting subunit;hsp90 co-chaperone Cdc37 APPROVED protein-coding ENSG00000105401 HGNC:1735 05456 605065 REVIEWED 1351337 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008] 14 14 14 q32.3 83452838 83577854 - 103398716 103523742 - 102932379 103057405 - 6480464;8554872 10198171;10574461;12168954;12477932;14702039;15489334;17081983;17353931;18263588;18854160;19056867;20177145;20379614;20936779;21139048;21240187;21471979;21890473;21906983;21949762;22266860;23000965;24250222;24639526;9418861 9578 H0YLR5;H0YLY0;Q86XZ8;Q9Y5S2 AB032950;ABBA01048441;ABBA01048442;ABBA01048443;ABBA01048444;ABBA01048445;ABBA01048446;ABBA01048447;ABBA01048448;AF128625;AK094920;AK126684;AL117209;AL133455;AMYH02029910;AMYH02029911;AMYH02029912;AMYH02029913;AMYH02029914;AMYH02029915;BC047871;BC048261;BC155541;BX248752;BX647753;CH471061;DQ355971;NM_006035;XM_005268227;XM_005268228;XM_005268229;XM_005268230 AAD37506;AAH47871;AAH48261;AAI55542;AAI56937;ABC67469;BAA86438;CAD66559;EAW81800;EAW81801;NP_006026;Q9Y5S2;XP_005268284;XP_005268285;XP_005268286;XP_005268287 Hs.654634 1340418;1658840;1684417;1712284;1722857;1769685;2119742;2128248;2136705;2138743;2141141;2146110;2177253;5014051;5015619;5016478;5020946;5022200;5037552;5117897 D11S3114;D14S293;D8S2278;D8S2279;G24046;G35357;G35358;G35359;G35410;G35487;G35915;G36112;G54051;G60371;GDB:434012;GDB:631813;L17971;L18426;RH99029;SGC30775 DKFZp686H1431;FLJ37601;FLJ44730;KIAA1124;MRCKB CDC42-binding protein kinase beta (DMPK-like);CDC42BP-beta;DMPK-like beta;MRCK beta;myotonic dystrophy kinase-related CDC42-binding kinase beta;myotonic dystrophy protein kinase-like beta;serine/threonine-protein kinase MRCK beta APPROVED protein-coding ENSG00000198752 HGNC:1738 08516 614062 REVIEWED 1322427 CDC42EP1 CDC42 effector protein (Rho GTPase binding) 1 CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 21758351 21767271 + 37956471 37965412 + 37559778 37569405 + 1580863;6480464;8554872 10430899;10490598;10591208;11035016;12477932;12665801;15345747;15461802;15489334;15574879;16189514;1629197;16344560;17081983;18029348;19060904;20936779;21139048;21890473;21988832;23000965;23383273;23891004;24255178 11135 B0QYC6;B0QYC7;B0QYC8;Q00587 ABBA01055473;AK292190;AL022315;AMYH02038337;BC009356;CH471095;CR456524;DA047271;M88338;NM_152243;XM_006724107;XM_006724108;XM_006724109 AAA36606;AAH09356;ABM84385;ABM87281;BAF84879;CAG30410;CAK54555;CAK54854;EAW60164;EAW60165;EAW60166;NP_689449;Q00587;XP_006724170;XP_006724171;XP_006724172 Hs.225356 1671438;2159285 STS-M88338;STS-R52295 BORG5;CEP1;MGC15316;MSE55 55 kDa bone marrow stromal/endothelial cell protein;OTTHUMP00000197884;binder of Rho GTPases 5;cdc42 effector protein 1;serum constituent protein;serum protein MSE55 APPROVED protein-coding ENSG00000128283 HGNC:17014 07303 606084 REVIEWED 730976 CDC42 cell division cycle 42 The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013] 1 1 1 p36.1 20702109 20742389 + 22379120 22419439 + 22052627 22092943 + 2311087;2293876;2293879;5688276;2298583;5688277;6480464;5688271;5688273;5688274;5688272;5688275;6484113;6907045;7240533 10817927;15736231;17161586;17971488;18391128;19295123;19432938;19700661;20626350;21266780;8910292;9305638 10051605;10068673;10211824;10320322;10360578;10360579;10366564;10480361;10490598;10551883;10587647;10676816;10684602;10713100;10713183;10724160;10733591;10747870;10749885;10781580;10799501;10799524;10802735;10816584;10818149;10854437;10873802;10934474;10954424;10954711;10967094;10975523;11035016;11090627;11130076;11157984;11162552;11257000;11260256;11278572;11284700;11287617;11331876;11394904;11431473;11432776;11438723;11583574;11584266;11584276;11672528;11696321;11756552;11773441;11807099;11822867;11839748;11884513;11889037;11907271;11943145;11948177;11973651;11998687;12006984;12032833;12093730;12110184;12115629;12172552;12181570;12235133;12270144;12369824;12376551;12421766;12426222;12432077;12446789;12453877;12456510;12477932;12504591;12511425;12538863;12547822;12584113;12595527;12606577;12612085;12650940;12745076;12767056;12769846;12819203;12824775;12857875;12860998;12879077;12887916;12887922;12887923;12900413;12901880;12915445;12928366;12944407;12960245;12960248;12972601;14505571;14530271;14563854;14597672;14656933;14676191;14699061;14701795;14733946;14749388;14970210;14978216;15023524;15075243;15085137;15102814;15121898;15123659;15123662;15133042;15147912;15187089;15194684;15260990;15265891;15287724;15304341;15306850;15355962;15361624;15451670;15472119;15485837;15489334;15616194;15642749;15649357;15652341;15652748;15655247;15713627;15723050;15728253;15735674;15761153;15793569;15803130;15821030;15822942;15824104;15833843;15834156;15864311;15901767;15923648;16169070;16189514;16201754;16204230;16228294;16246732;16253996;16293614;16322481;16356860;16407834;16443932;16678097;16687395;16710414;16849480;16864657;16880514;16930532;16983070;17038317;17074883;17115031;17254974;17300218;17301947;17346701;17353931;17356711;17513457;17513786;17517067;17521326;17538024;17567985;17664338;17693642;17702745;17976533;18045877;18056264;18056353;18057010;18235104;18245386;18245474;18287089;18319301;18325348;18334926;18348980;18363964;18403635;18432521;18541383;18541478;18541705;18552504;18565850;18575765;18586681;18624398;18628988;18656530;18728402;18835169;18838868;18922799;18937283;18974134;1898776;19001128;19039103;19056867;19109421;19273597;19307303;19322201;19356586;19416857;19435802;19454477;19463088;19473971;19561083;1956381;19596003;19622753;19635823;19640983;19641023;19667218;19692568;19709124;19710257;19718053;19726670;19752396;19778949;19787194;19819966;19826000;19933840;19934222;20056178;20067638;20086093;20130240;20215637;20403997;20530489;20545942;20631255;20696164;20730103;20806065;20849862;20873783;20936779;20945370;21036919;21048939;21139048;21165582;21167153;21186079;21221794;2122236;21240187;2124704;21295525;21302623;21311754;21356349;21435037;21454543;21562048;21603851;21613211;21618528;21667996;21685891;21866627;21890473;21900206;21906983;21952626;21963094;21988832;21994733;22023324;22053931;22092654;22093623;22126964;22213037;22266952;22318733;22341450;22362774;22385474;22393238;22505724;22589722;22608513;22610502;22683270;22719838;22721673;22770822;22796473;22821962;22844345;22863883;22891260;22939629;23000965;23029280;23119100;23142484;23148235;23178712;23197258;23254359;23295348;23337504;23358418;23420497;23439680;23455922;23521319;23562274;23583380;23606532;23622765;23625752;23644655;23696594;23718289;23750283;23834289;23884297;23894465;23936510;23941980;24006489;24025765;24041540;24074261;24178298;24220306;24250222;24256571;24276241;24284073;24352036;24379416;24393843;24413169;24584464;24610809;24613926;24654937;24816145;2496687;25015289;7493928;7513047;7547927;7629060;7665558;7738010;7744004;8034624;8107774;8625410;8643625;8670801;8702968;8755667;8756646;8798539;8889548;8943016;8969170;8994833;9032261;9079650;9082982;9113980;9182573;9210375;9220962;9262406;9268338;9338791;9381982;9407060;9418861;9422512;9427749;9490022;9535835;9535855;9582072;9642115;9660763;9705280;9742969;9748241;9760238;9786927;9799233;9822598;9846874;9860974 998 B4E1U9;P60953;Q5JYX0 ABBA01059840;ABBA01059841;AF498962;AF498963;AK297465;AK303994;AK311375;AK316449;AL031281;AL121734;AL121735;AL121736;AL121737;AMYH02000466;AMYH02000467;AX888060;AY673602;BC002711;BC003682;BC018266;BC018622;BM684474;BP871988;CH471134;CS026525;M35543;M57298;NM_001039802;NM_001791;NM_044472 AAA52494;AAA52592;AAH02711;AAH03682;AAH18266;AAM21109;AAM21110;AAT70721;ABM82121;ABM85303;BAG59887;BAG64911;BAH14820;CAB57325;CAB57326;CAB57327;CAB57328;CAE93985;CAI61729;EAW95002;EAW95003;EAW95004;EAW95005;EAW95006;EAW95007;EAW95008;EAW95009;NP_001034891;NP_001782;NP_426359;P60953 Hs.467637 1654175;1657167;1657536;1663614;1673147;1788930;1795530;1857514;2125588;2167461;5022651;5093618;5117995;5127213 A009S40;CDC42_1530;D11S2921;G15855;G22163;G32824;G34846;GDB:636131;RH69132;SHGC-12429;SHGC-57553;SHGC-74349;UniSTS:224478;WI-18965 CDC42Hs;G25K G25K GTP-binding protein;GTP binding protein, 25kDa;GTP-binding protein, 25kD;OTTHUMP00000002834;OTTHUMP00000002926;OTTHUMP00000002927;cell division control protein 42 homolog;cell division cycle 42 (GTP binding protein, 25kDa);dJ224A6.1.1 (cell division cycle 42 (GTP-binding protein, 25kD));dJ224A6.1.2 (cell division cycle 42 (GTP-binding protein, 25kD));growth-regulating protein;small GTP binding protein CDC42 APPROVED protein-coding ENSG00000070831 HGNC:1736 00309 116952 REVIEWED 1321045 CDC42EP2 CDC42 effector protein (Rho GTPase binding) 2 CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011] 11 11 11 q13 62408688 62416256 + 65082289 65089900 + 65314818 65322429 + 1580863;6480464 10430899;10490598;11035016;11584266;12477932;14702039;15489334;16344560;16395716;18029348;18541383;20934684;20936779;21988832;9253601 10435 O14613 ABBA01024129;AF001436;AF098290;AF163840;AF548903;AK098292;AK315444;AMYH02024955;AP000944;BC022337;BC075834;BT020004;CH471076;DA251345;NM_006779 AAB81206;AAD16185;AAD48784;AAH22337;AAH75834;AAN39381;AAV38807;ABM82914;ABM86104;BAG37832;BAG53607;EAW74374;NP_006770;O14613 Hs.343380 1775102;2136419 RH11951;STS-Z39767 BORG1;CEP2 CRIB-containing BOGR1 protein;OTTHUMP00000231608;binder of Rho GTPases 1;cdc42 effector protein 2 APPROVED protein-coding ENSG00000149798 HGNC:16263 09363 606132 REVIEWED 1350948 CDC42BPG CDC42 binding protein kinase gamma (DMPK-like) ENCODES a protein that exhibits ATP binding; magnesium ion binding; protein serine/threonine kinase activity; INVOLVED IN protein phosphorylation; actin cytoskeleton reorganization (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell leading edge; INTERACTS WITH paracetamol; 1,1-dichloroethene (ortholog); 17alpha-ethynylestradiol (ortholog) 11 11 11 q13.1 61917813 61938195 - 64591661 64612041 - 64824189 64844569 - 6480464;8554872 15194684;18029348;21768215;21903422;21906983;24816145;9253601;9341881 55561 Q6DT37 ABBA01024141;AMYH02024943;AMYH02024944;AP001187;AY648038;BI793270;CH471076;NM_017525;Y12337 AAT67172;CAA73006;EAW74316;NP_059995;Q6DT37 Hs.293590 1803104;1803178;1805088;1805918;1806048;1806498;1806500;1806854;1807334;1808486;1812706;1813778;1816606;1817832;1822146;1822212;1823488;1831144;1833726;1834960;1835344;1839058;1840134;1842956;1971422;1971424;1971426;1971428;1971430;1971432;1971434;1971436;1971438;1971440;1971442;1971444;1971446;1971448;1971450;1971452;1971454;1971456;1971458;1971460;1971462;1971464;1971466;1971468;1971470;1971472;1971474;1971476;1971478;1971480;1971482;1971484;1971486;1971488;1971490;1971492;1971494;1971496;1971498;1971500;1971502;1971504;1971506;1971508;1971510;1971512;1971514;1971516;1971518;1971520;1971522;1971524;1971526;1971528;1971530;1971532;1971534;1971536;1971538;1971540;1971542;1971544;1971546;1971548;1971550;1971552;1971554;1971556;1971558;1971560;1971562;1971564;1971566;1971568;1971570;1971572;1971574;1971576;1971578;1971580;1971582;1971584;1971586;1971588;1971590;1971592;1971594;1971596;1971598;1971600;1971602;1971604;1971606;1971608;1971610;1971612;1971614;2214964;2214966;2214968;2214970;2214972;2214974;2214976;2214978;2214980;2214982;2214984;2214986;2214988;2214990 ECD02443;ECD02480;ECD03486;ECD03912;ECD03977;ECD04206;ECD04207;ECD04392;ECD04638;ECD05225;ECD07364;ECD07912;ECD09345;ECD09970;ECD12159;ECD12192;ECD12835;ECD16708;ECD18008;ECD18631;ECD18827;ECD20708;ECD21251;ECD22686;REN56595;REN56596;REN56597;REN56598;REN56599;REN56600;REN56601;REN56602;REN56603;REN56604;REN56605;REN56606;REN56607;REN56608;REN56609;REN56610;REN56611;REN56612;REN56613;REN56614;REN56615;REN56616;REN56617;REN56618;REN56619;REN56620;REN56621;REN56622;REN56623;REN56624;REN56625;REN56626;REN56627;REN56628;REN56629;REN56630;REN56631;REN56632;REN56633;REN56634;REN56635;REN56636;REN56637;REN56638;REN56639;REN56640;REN56641;REN56642;REN56643;REN56644;REN56645;REN56646;REN56647;REN56648;REN56649;REN56650;REN56651;REN56652;REN56653;REN56654;REN56655;REN56656;REN56657;REN56658;REN56659;REN56660;REN56661;REN56662;REN56663;REN56664;REN56665;REN56666;REN56667;REN56668;REN56669;REN56670;REN56671;REN56672;REN56673;REN56674;REN56675;REN56676;REN56677;REN56678;REN56679;REN56680;REN56681;REN56682;REN56683;REN56684;REN56685;REN56686;REN56687;REN56688;REN56689;REN56690;REN56691;stSG635716;stSG635717;stSG635719;stSG635720;stSG635721;stSG635722;stSG635723;stSG635724;stSG635725;stSG635726;stSG635728;stSG635729;stSG635730;stSG635731 DMPK2;HSMDPKIN;KAPPA-200;MRCKG;MRCKgamma CDC42-binding protein kinase gamma;DMPK-like gamma;MRCK gamma;OTTHUMP00000042866;myotonic dystrophy kinase-related CDC42-binding kinase gamma;myotonic dystrophy protein kinase like protein;myotonic dystrophy protein kinase-like alpha;myotonic dystrophy protein kinase-like gamma;serine/threonine-protein kinase MRCK gamma protein-coding ENSG00000171219 HGNC:29829 13013 613991 VALIDATED 1351605 CDC42BPA CDC42 binding protein kinase alpha (DMPK-like) The protein encoded by this gene is a member of the Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. [provided by RefSeq, Jul 2008] 1 1 1 q42.11 200368385 200714137 - 227177566 227506193 - 226989865 227318492 - 6480464;8554872 10198171;10559936;10652353;10737800;10947843;10958655;11283256;11340065;11399775;11929873;12018391;12477932;12568720;15194684;15723050;16412980;16710414;17344417;18263588;18854160;19056867;20188707;20936779;21139048;21457715;21906983;22505724;24639526;25092657;9092543;9418861;9455484 8476 H0Y5V1;H0Y6R0;H0Y6V3;H0Y7V8;Q5VT25 AB007920;AB208968;ABBA01009619;ABBA01009620;ABBA01009621;ABBA01009622;AF250871;AJ518975;AJ518976;AK027000;AK130237;AL353689;AL451047;AL627308;AMYH02002822;AMYH02002823;AMYH02002824;AMYH02002825;AMYH02002826;AY166586;BC008677;BC038993;BC050335;BC127831;BC136333;BF765241;BQ232716;BX648219;BX648693;CH471098;CR933723;NM_003607;NM_014826;U59305;XM_005273317;XM_005273318;XM_005273320;XM_005273321;XM_005273322;XM_005273323;XM_005273324;XM_006711834;XM_006711835;XM_006711836;XM_006711837 AAB37126;AAF66437;AAI36334;AAI56893;AAN86031;BAA32296;BAB15619;BAD92205;CAD57745;CAD57746;CAI45998;CAI46252;EAW69806;EAW69807;EAW69808;EAW69809;NP_003598;NP_055641;Q5VT25;XP_005273374;XP_005273375;XP_005273377;XP_005273378;XP_005273379;XP_005273380;XP_005273381;XP_006711897;XP_006711898;XP_006711899;XP_006711900 Hs.35433 1645697;1662912;1668376;1684060;1691154;1718049;2134349;2135330;2146769;2148044;2178926;5015861;5015961;5020946;5021872;5022788;5037552;7185938;7187461 A007H16;BCD141;CDC42BPA;D10S16;D15S1477;D1S271E;D8S2279;L17971;RH122642;RH46341;RH91332;RH99156;SHGC-76429;SHGC-76431;SHGC-76450;STS-N23124;sY3084 DKFZp686L1738;DKFZp686P1738;FLJ23347;KIAA0451;MRCK;MRCKA;PK428 CDC42 binidng protein kinase beta;CDC42-binding protein kinase alpha (DMPK-like);DMPK-like alpha;MRCK alpha;OTTHUMP00000035727;OTTHUMP00000035728;OTTHUMP00000035729;OTTHUMP00000035730;myotonic dystrophy kinase-related CDC42-binding kinase alpha;myotonic dystrophy kinase-related CDC42-binding protein kinase alpha;myotonic dystrophy protein kinase-like alpha;ser-thr protein kinase PK428;ser-thr protein kinase related to the myotonic dystrophy protein kinase;serine/threonine-protein kinase MRCK alpha APPROVED protein-coding ENSG00000143776 HGNC:1737 04562 603412 REVIEWED 2293180 CDC42P2 cell division cycle 42 pseudogene 2 7 7 7 p11.2 55808760 55809532 - 55705117 55706612 - 55637424 55638919 - 643336 ABBA01011859;AC099681;AMYH02015736;CH471201;NG_007652 EAW50974 2071716 REN107051 pseudo HGNC:33952 INFERRED 1314141 CDC42EP3 CDC42 effector protein (Rho GTPase binding) 3 This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 2 2 2 p21 37711639 37740219 - 37869025 37899678 - 37641882 37672535 - 6480464;8554872 10490598;11035016;11076863;11230166;11256614;11584266;12477932;14702039;15345747;15489334;15489336;15815621;16169070;16189514;16344560;16381901;16466844;16908841;17081983;17173092;17692555;18541383;18854154;20385374;20881960;20936779;21116278;21139048;22451153;22681909;23563607;23602568;9535835 10602 C9J7F7;C9JEZ4;C9JKW5;Q9UKI2 ABBA01074984;AC006369;AF094521;AF104857;AF164118;AK055915;AK128735;AK313483;AL136842;AL538577;AL567387;AMYH02003617;AMYH02003618;BC019270;BQ067953;BQ432066;BT007190;CH471053;DB121680;HY003915;HY017509;NM_001270436;NM_001270437;NM_001270438;NM_006449 AAC71773;AAD16888;AAD48815;AAH19270;AAP35854;AAX93072;BAG36267;BAG54721;CAB66776;CAL38536;EAX00390;NP_001257365;NP_001257366;NP_001257367;NP_006440;Q9UKI2 Hs.369574 1658167;1734250;1771998;1850615;2151669;2175875;2218350 CDC42EP3_4534;D2S1501E;D2S1680E;RH12830;RH16633;RH67826;WI-13652 BORG2;CEP3;FLJ46903;UB1 CRIB-containing BORG2 protein;MSE55-related Cdc42-binding protein;MSE55-related protein;OTTHUMP00000126964;OTTHUMP00000201951;OTTHUMP00000203201;OTTHUMP00000203202;binder of Rho GTPases 2;cdc42 effector protein 3 APPROVED protein-coding ENSG00000163171 HGNC:16943 09364 606133 REVIEWED 8166104 CDC42EP3P1 CDC42 effector protein (Rho GTPase binding) 3 pseudogene 1 19 19 19 p12 23401721 23402481 + 23567332 23568092 + 23384530 23385290 + 100128845 ABBA01051432;AC022409;AMYH02035839;NG_021762 pseudo HGNC:49673 INFERRED 6904450 CDC42P3 cell division cycle 42 pseudogene 3 8 8 8 q24.3 140386505 140387077 + 144077245 144079080 + 142995828 142997663 + 16344560 100128627 ABBA01005279;AC105202;AMYH02018931;DA106474;NR_102426 pseudo HGNC:44427 VALIDATED 6904430 CDC42P5 cell division cycle 42 pseudogene 5 5 5 172510864 172513291 - 173083861 173086288 - 100507354 ABBA01044031;AC008378;AMYH02012767;NG_030075 pseudo HGNC:44429 INFERRED 6904280 CDC42P4 cell division cycle 42 pseudogene 4 4 4 4 q25 107770196 107770755 + 110476264 110478060 + 109555108 109556904 + 100131440 ABBA01063777;AC105314;AMYH02009898;NG_022069 pseudo HGNC:44428 INFERRED 6904334 CDC42P6 cell division cycle 42 pseudogene 6 4 4 4 p15.2 23178976 23180577 - 22728045 22729646 - 22726422 22728023 - 10480361 643751 ABBA01032667;AC093917;AMYH02008881;CH471069;NG_008215 EAW92804;EAW92805;EAW92806 1335032;1335262;1339230;1644085;1654054;1668583;1673083;1706534;1714331;1716369;1716629;1718137;1719027;1722907;1723113;1728111;1730101;1730940;1763233;1778820;1784086;1785020;1787614;1855326;1857107;1857109;1857789;2110175;2110207;2114800;2121378;2122719;2123788;2132150;2133836;2136204;2147542;2147925;2156119;2167704;2180131;2182168;7183723;7183989 D10S2222;D4S1118;D4S1227;D4S1265;D4S1287;D4S1314;D4S1334;D4S1345;D4S2605;D4S2709;D4S2745;D4S2933;D4S2953;D4S326;D4S336;D4S425;D4S433E;D4S616;D4S812;D4S968;D4S972;G33991;G34202;G60548;G63327;L00811;RH119945;RH121364;RH121571;RH122836;RH123220;RH123742;SHGC-146964;SHGC-149745;SHGC-152689;SHGC-155986;SHGC-24823;SHGC-50645;SHGC-67794;SHGC-81240;stb108G15.p2;stb412P11.p1 APPROVED pseudo HGNC:44430 INFERRED 1343898 CDC42P1 cell division cycle 42 pseudogene 1 20 20 20 q11.22 29739222 29740045 - 32989122 32990578 - 34401316 34402772 - 170503 ABBA01019198;AL356299;AMYH02036978;NG_001032;NG_023206 bK3216D2.3 pseudo HGNC:16339 INFERRED 1318117 CDC42EP5 CDC42 effector protein (Rho GTPase binding) 5 Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to CDC42 and regulate its function negatively. The encoded protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. The protein may also play a role in septin organization and inducing pseudopodia formation in fibroblasts [provided by RefSeq, Jul 2013] 19 19 19 q13.42 52016789 52024999 - 54976210 54984422 - 54465025 54473290 - 6480464 10490598;11035016;11584266;12477932;15489334;16344560 148170 Q6NZY7 ABBA01068156;ABBA01068157;AC008746;AC245884;AI379873;BC024327;BC065910;CH471135;CU207370;CU467002;DA867588;NM_145057 AAH24327;AAH65910;EAW72252;NP_659494;Q6NZY7 Hs.415791 1815740;1827794;1834306;1846402;2043824;2043826;2043828;2043830;2043832;2043834;2043836;2043838;2043840;2043842;2043844;2043846;2043848;2043850;2043852;2043854;2043856;2043858;2043860;2043862;2043864;2043866;2043868;2043870;2043872;2043874;2043876;2043878;2043880;2043882;2043884;2043886;2043888;2043890;2043892;2043894;2043896;2104000;2104002;2104004;2104006 ECD08908;ECD15019;ECD18301;ECD24421;REN92963;REN92964;REN92965;REN92966;REN92967;REN92968;REN92969;REN92970;REN92971;REN92972;REN92973;REN92974;REN92975;REN92976;REN92977;REN92978;REN92979;REN92980;REN92981;REN92982;REN92983;REN92984;REN92985;REN92986;REN92987;REN92988;REN92989;REN92990;REN92991;REN92992;REN92993;REN92994;REN92995;REN92996;REN92997;REN92998;REN92999;stSG606088;stSG606089;stSG606090;stSG606091 Borg3;CEP5;MGC21945;MGC71153 1700027J19Rik;2010007O02Rik;OTTHUMP00000068391;binder of Rho GTPase 3-like;binder of Rho GTPases 3;cdc42 effector protein 5 APPROVED protein-coding ENSG00000167617 HGNC:17408 13023 609171 REVIEWED 1323093 CDC42EP4 CDC42 effector protein (Rho GTPase binding) 4 The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008] 17 17 17 q24-q25 67862911 67891275 - 71279763 71308314 - 73283624 73312004 - 1580863;6480464;8554872 10490598;11035016;11185749;12477932;14702039;15226823;15489334;15761153;16189514;17081983;17207965;17643375;18029348;19322201;20936779;21139048;21832049;21906983;22889411;23000965;23383273;23602568;24250222 23580 B2R6D8;J3KRZ9;J3QQS6;J3QR93;Q9H3Q1 AB042237;ABBA01028865;ABBA01028866;ABBA01028867;AC087301;AF099664;AK027385;AK097835;AK312536;AL162074;AMYH02033959;AMYH02033960;AMYH02033961;AX141238;AX882113;BC002774;BC010451;BE387060;BI560730;CH471099;NM_012121;XM_005257182 AAD16299;AAH02774;AAH10451;ADQ32045;BAB17272;BAG35435;BAG51313;BAG53539;CAC40577;CAE91451;EAW89123;EAW89124;NP_036253;Q9H3Q1;XP_005257239 Hs.3903 1342376;1694826;1847226;2182024;5016438 A002D24;D17S757;G19982;RH121912;SHGC-11717 BORG4;CEP4;KAIA1777;MGC17125;MGC3740 binder of Rho GTPases 4;cdc42 effector protein 4 APPROVED protein-coding ENSG00000179604 HGNC:17147 08383 605468 REVIEWED 1343863 CDC42SE2 CDC42 small effector 2 ENCODES a protein that exhibits structural molecule activity; INVOLVED IN regulation of signal transduction; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 5 5 5 q31.1 126730097 126860712 + 130599702 130730383 + 131264009 131394690 + 1580863;6480464;8554872 10816584;12477932;15840583;16344560;16712791;17030554;18029348;18804346;19322201;21906983;21963094;21987572;23833064;24250222;8619474;9110174 56990 D6REL0;H0Y9W5;Q9NRR3 ABBA01068826;ABBA01068827;ABBA01068828;ABBA01068829;ABBA01068830;ABBA01068831;AC004777;AC008497;AC009016;AC114275;AF131831;AF189692;AI440226;AK025620;AK312406;AMYH02012198;AMYH02012199;AMYH02012200;BC023555;BC050430;BC058909;BC096703;BC096738;BC098349;BI460220;BI522591;CB135092;CH471062;DA321488;NM_001038702;NM_020240 AAF87598;AAH96703;AAH96738;AAH98349;BAG35319;EAW62372;EAW62373;NP_001033791;NP_064625;Q9NRR3 Hs.508829;Hs.713870 1671925;1673440;1688566;1693730;1739331;2135415;2137051;2146091;2151950;2154417;2178183;2184079;5037552;5093672 A008N05;A009U40;D5S1427;D5S1804E;D8S2279;G32856;RH12501;RH16185;RH46287;RH47655;RH99239;SHGC-34691;SHGC-58802;WI-17021 FLJ21967;SPEC2 CDC42 small effector protein 2;OTTHUMP00000222550;OTTHUMP00000222551;non-kinase Cdc42 effector protein SPEC2;small effector of CDC42 protein 2 protein-coding ENSG00000158985 HGNC:18547 16695 VALIDATED 1346360 CDC42SE1 CDC42 small effector 1 ENCODES a protein that exhibits GTPase inhibitor activity (inferred); INVOLVED IN negative regulation of catalytic activity (inferred); phagocytosis (inferred); regulation of cell shape (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); plasma membrane (inferred); INTERACTS WITH amiodarone; cobalt dichloride; copper(2+) sulfate 1 1 1 q21.3 124138756 124147427 - 151023447 151032125 - 151050971 151059649 - 1580863;6480464 10816584;12421766;12477932;15342556;15840583;18029348;18541383;19322201;20936779;21139048;21282530;23000965 56882 Q9NRR8 ABBA01049368;AF187845;AF286041;AF286592;AL590133;AMYH02001870;BC012796;BC041604;BP340339;BX339337;CH471121;NM_001038707;NM_020239 AAF87597;AAF97248;AAG17723;AAH12796;AAH41604;ABM85120;EAW53477;EAW53478;EAW53479;NP_001033796;NP_064624;Q9NRR8 Hs.22065 1647969;1687191;1687928;1689057;1851755;1853444 RH69823;RH79564;RH93368;RH98209;SHGC-37116;WI-17680 SCIP1;SPEC1 1300002M12Rik;CDC42 small effector protein 1;CDC42-binding protein SCIP1;OTTHUMP00000033118;signaling molecule SPEC1 beta;small effector of CDC42 protein 1;small protein effector 1 of Cdc42 protein-coding ENSG00000197622 HGNC:17719 16694 VALIDATED 1319341 CDC6 cell division cycle 6 The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 35104288 35119555 + 38444146 38459413 + 40287894 40303161 + 6480464;6907045;7240710;8554872;8699517 10214964;10339564;10436018;10464337;10629059;10766737;10899308;10995389;11046155;11095689;11125146;11346650;11779870;11846807;11931757;12006585;12045100;12151338;12429841;12477932;12538639;12554670;12614612;12791985;12912926;14517333;14672932;14701726;14749377;15050687;15226314;15232106;15489334;15590906;15684404;15696126;15707391;15861133;15887248;16055707;16428461;16439999;16572177;16801388;17567951;17689530;18006835;18048387;18162579;18259842;18397887;18458079;18617514;18640135;18761675;19074885;19101572;19107233;19154794;19189662;19233139;19321444;19343071;19462008;19520769;19950599;20048340;20360068;20606534;20800603;20813683;21041660;21048031;21088490;21358632;21383955;21519187;21906983;21963094;21988832;22094256;22117071;22179839;22201124;22223646;22262174;22523071;22589552;22871742;22908236;22974333;23011157;23129444;23479742;23597704;23803736;24216307;24583551;8505328;8990175;9520412;9566895;9774682;9778043;9857179;9889196;9925618 990 J3KTI7;J3QLN7;J3QR52;Q99741 AA210818;AB010492;ABBA01031832;ABBA01031833;AC080112;AF022109;AJ009560;AK313620;AMYH02033398;AY150310;BC025232;BE296640;BE548194;BF203219;CH471152;CQ789346;NG_028240;NM_001254;U77949 AAB38317;AAC52071;AAH25232;AAN10296;ABM83766;ABM87086;BAG36382;CAG24445;EAW60650;EAW60651;NP_001245;Q99741 Hs.405958 1665410;1791398;1795532;2175706 CDC6_1451;PMC109252P1;RH70424;STS-U77949 CDC18L;HsCDC18;HsCDC6 CDC18 (cell division cycle 18, S.pombe, homolog)-like;CDC6 cell division cycle 6 homolog;CDC6-related protein;OTTHUMP00000164449;cdc18-related protein;cdc6 cell division cycle 6 homolog (s. cerevisiae);cell division control protein 6 homolog;cell division cycle 6 homolog;cell division cycle 6 protein;p62(cdc6) APPROVED protein-coding HGNC:1744 04022 602627;613805 REVIEWED 1348557 CDCA4 cell division cycle associated 4 This gene encodes a protein that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulation of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014] 14 14 14 q32.33 85530125 85541645 - 105475910 105487425 - 105009573 105021088 - 6480464 11482882;12188893;12477932;14702039;15146197;15489334;16984923;17141982;18498124;18572021;19156129;19322201;21906983;23455924 55038 Q9BXL8 ABBA01008850;ABBA01008851;AF322239;AK000771;AK303947;AL512356;AL512802;AMYH02029959;BC011736;BC025263;BG354577;BG703331;CH471061;CN427719;NM_017955;NM_145701 AAH11736;AAH25263;AAK31075;ABM84334;ABM87725;BAA91373;BAG64875;EAW81894;EAW81895;EAW81896;EAW81897;NP_060425;NP_663747;Q9BXL8 Hs.34045 2109121 CDCA4_9866 FLJ20764;FLJ52878;HEPP;MGC19517;SEI-3/HEPP OTTHUMP00000244376;OTTHUMP00000244377;cell division cycle-associated protein 4;hematopoietic progenitor protein APPROVED protein-coding ENSG00000170779 HGNC:14625 13015 612270 REVIEWED 1318070 CDC7 cell division cycle 7 This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008] 1 1 1 p22 90213111 90238021 + 91966338 91991321 + 91500814 91525764 + 1580863;6480464;6907045 10373557;10523313;10846177;11568184;12065429;12477932;12614612;12791985;15226314;15232106;15466207;15474462;15489334;15668232;15707391;16082200;16344560;16446360;16710414;16826239;16864800;16899510;16912045;16954377;17046832;17062569;17102137;17711849;17927916;18084324;18286467;18625709;18714392;19054765;19111665;19278428;19318489;19426592;19647517;19864417;19896697;20421204;20548946;20647475;20707412;20819778;21098111;21139048;21307088;21536671;21832049;21906983;21963094;21988832;22528513;22574151;22806309;23066029;23598722;23684929;23716994;24250222;8889549;9250678;9405610;9573348 8317 B1AMW7;B2R6V2;O00311 AB003698;AB209337;ABBA01045565;AC021075;AC098691;AF005209;AF015592;AI672674;AK298963;AK312726;AL355871;AMYH02001465;AY312583;AY585721;BC110526;BC110527;BC111044;CH471097;DA127303;DA791490;N62245;NM_001134419;NM_001134420;NM_003503;XM_005271241;XM_005271244;XM_005271245 AAB97512;AAC52080;AAI10527;AAI10528;AAI11045;AAR16187;AAS79323;BAA19962;BAD92574;BAG35599;BAH12913;EAW73114;EAW73115;NP_001127891;NP_001127892;NP_003494;O00311;XP_005271298;XP_005271301;XP_005271302 Hs.533573 1665487;1692366;2106985 AL034044;CDC7_7915;SHGC-36224 CDC7L1;HsCDC7;Hsk1;MGC117361;MGC126237;MGC126238;huCDC7 CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1;CDC7-related kinase;OTTHUMP00000011788;cdc7 cell division cycle 7 (s. cerevisiae);cell division cycle 7 homolog;cell division cycle 7-like protein 1;cell division cycle 7-related protein kinase APPROVED protein-coding ENSG00000097046 HGNC:1745 10345 603311 REVIEWED 8548406 CDCA4P1 cell division cycle associated 4 pseudogene 1 9 9 9 14527104 14527711 + 14593576 14594183 + 14593578 14594185 + 100420502 ABBA01065299;AL159169;AMYH02019196;NG_023874 pseudo HGNC:49770 INFERRED 731949 CDC5L cell division cycle 5-like The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008] 6 6 6 p21 45908480 45967835 + 44355251 44418161 + 44387514 44450424 + 6480464;6907045;8554872 10570151;10827081;11082045;11101529;11329013;11544257;11991638;12168954;12477932;12840015;12927788;14515018;14574404;14576297;14702039;14729942;15232106;15324660;15489334;15660529;15840729;16159877;16216881;16223718;16332694;16341674;17043677;17081983;17148452;17276391;17332742;17353931;18029348;18330920;18567798;18583928;18722174;19240061;19454010;19471022;19596686;19633697;19641227;19946888;20020773;20176811;20211142;20360068;20467437;20508642;20595234;21036905;21081666;21139048;21145461;21385873;21536736;21639856;21693764;21890473;21906983;21907836;21988832;22174317;22365833;22446626;22751105;22763110;22939629;22941190;22944692;22990118;23022480;23084401;23125841;23455922;24332808;24457600;24550385;24591637;24598747;24778252;24816145;8917598;9038199;9455477;9468527;9598309;9632794;9731529 988 Q99459 AB007892;ABBA01050639;AK128737;AK299738;AL133262;AL353588;AMYH02013659;AMYH02013660;AMYH02013661;AY518540;BC001568;BG187521;BG497404;BM829346;CH471081;D85423;DC422730;NM_001253;U86753;XM_006715289 AAB61210;AAH01568;AAR89913;ABM82549;ABM85740;BAA20885;BAA24862;BAG54722;BAG61633;EAX04270;NP_001244;Q99459;XP_006715352 Hs.485471 1854384;2134189;2150816;2150818;2190521;2191153;5109663;5118444 A001V05;D11S3316;D7S2067E;EST15C11;G19678;MARC_15357-15358:1017682310:1;STS-R38882;WI-19876 CDC5;CDC5-LIKE;CEF1;KIAA0432;PCDC5RP;dJ319D22.1;hCDC5 CDC5 (cell division cycle 5, S. pombe, homolog)-like;CDC5 cell division cycle 5-like;Cdc5-related protein;Cell division cycle 5, S. pombe, homolog-like;OTTHUMP00000016529;cell division cycle 5-like (s. pombe);cell division cycle 5-like protein;dJ319D22.1 (CDC5-like protein);pombe cdc5-related protein APPROVED protein-coding ENSG00000096401 HGNC:1743 04184 602868 REVIEWED 1322226 CDCA2 cell division cycle associated 2 INVOLVED IN positive regulation of protein dephosphorylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN chromosome; cytoplasm; nucleus; INTERACTS WITH (-)-demecolcine; 5-aza-2'-deoxycytidine; aflatoxin B1 8 8 8 p21.2 24278060 24326920 + 25316275 25365425 + 25458759 25507909 + 6480464;8554872 12188893;12477932;14702039;16492807;16998479;18029348;19471022;20188555;20379614;21139048;21514157;21820363;21890473;21900206;22801782;23000965;23362328;23418564;23746640;24250222 157313 E9PEI0;Q69YH5 ABBA01005564;AC103779;AK092164;AK098670;AK292505;AK299278;AL833396;AL833627;AMYH02017646;AMYH02017647;BC015691;BC036214;BC063651;BC085609;BC104450;BC104451;BG354575;BG716934;BM802460;BX649008;KF459603;NM_152562;R95735;XM_005273418;XM_006716294;XM_006716295;XM_006716296 AAH36214;AAH63651;AAH85609;AAI04451;AAI04452;BAC05374;BAF85194;BAG52490;BAH12991;CAH10577;CAH10585;NP_689775;Q69YH5;XP_005273475;XP_006716357;XP_006716358;XP_006716359 Hs.33366 1688142;1854196;2119822 RH91580;SHGC-36250;WI-11501 FLJ25804;MGC129906;MGC129907;PPP1R81;Repo-Man OTTHUMP00000125276;OTTHUMP00000225069;cell division cycle-associated protein 2;protein phosphatase 1 [gamma] (PPP1R3A) binding protein Repo-Man;recruits PP1 onto mitotic chromatin at anaphase protein protein-coding ENSG00000184661 HGNC:14623 13014 VALIDATED 1345166 CDCA3 cell division cycle associated 3 INVOLVED IN mitotic nuclear division (inferred); protein ubiquitination (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 12 12 12 p13 8575256 8577742 - 6957972 6961128 - 6848808 6851964 - 6480464 12188893;12477932;12679038;14702039;15070733;15733861;16189514;19159283;20416077;20581839;21139048;21832049;21988832;22839099;22939629;23219899;23824909;8723724;9074930 83461 B2R749;F5GX58;F8WDL1;J3KMY0;Q99618 ABBA01017662;AK092246;AK291421;AK312843;AMYH02025956;BC002551;BM911472;BX099267;CD106434;CH471116;CS185564;DA735127;NM_001297602;NM_001297603;NM_001297604;NM_031299;NR_123727;U47924;XM_005253795;XR_242988 AAB51327;AAH02551;BAF84110;BAG35696;CAJ42745;EAW88728;EAW88729;NP_001284531;NP_001284532;NP_001284533;NP_112589;Q99618;XP_005253852 Hs.524216 FBXO52;GRCC8;MGC2577;TOME-1 OTTHUMP00000239926;OTTHUMP00000239927;OTTHUMP00000239928;OTTHUMP00000239929;cell division cycle-associated protein 3;gene rich cluster, C8;gene-rich cluster protein C8;trigger of mitotic entry 1;trigger of mitotic entry protein 1 protein-coding ENSG00000111665 HGNC:14624 09670 607749 VALIDATED 8548421 CDCA4P2 cell division cycle associated 4 pseudogene 2 1 1 1 p22.3 85260985 85263232 - 87016999 87019246 - 86551316 86553563 - 100129348 ABBA01045617;AL122002;AMYH02001406;NG_008469 pseudo HGNC:49771 INFERRED 1323393 CDC73 cell division cycle 73 This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009] 1 1 1 q25 166200694 166333560 + 193091088 193223945 + 193121958 193254815 + 6480464;8554872;8699517 11318611;11951180;12434154;12477932;12960210;14585940;14702039;14715834;14985373;14985403;15046050;15046094;15046098;15046102;15046105;15046107;15046109;15070940;15489334;15531515;15580289;15613436;15632063;15635413;15923622;15956079;16061557;16116486;16169070;16307923;16448924;16630820;16710414;16728578;16989776;17113272;17130827;17138574;17314275;17404568;17555500;17643375;17923126;18080135;18217513;18338208;18436011;18469135;18687124;18755853;18987311;19017757;19058032;19081034;19136632;19169472;19332451;19351817;19471022;19474519;20026646;20052758;20178742;20301471;20301744;20304979;20305087;20480190;20541447;20541477;21139048;21221636;21240254;21315421;21360064;21406692;21652691;21692036;21693764;21717873;21726809;21732217;21890473;21900206;21906983;21963094;22021426;22187299;22451921;22505724;22532828;22589738;22863883;22932087;22939629;22987117;23000965;23029104;23029479;23060304;23166327;23443559;23453027;23667531;23757631;23891004;23991985;24121387;24257751;24778252;24816145;7717405;8125298 79577 B4DV47;Q6P1J9 ABBA01027636;AF312865;AI638120;AK026969;AK226038;AK300929;AK314772;AL139133;AL390863;AMYH02002382;AMYH02002383;AMYH02002384;AMYH02002385;BC007325;BC013075;BC014351;BC065037;BM471846;BU428536;CH471067;DC298135;NG_012691;NM_024529;XM_006711537 AAG45339;AAH07325;AAH14351;AAH65037;ACE86624;ACE87305;BAB15608;BAG37309;BAG62559;EAW91250;NP_078805;Q6P1J9;XP_006711600 Hs.378996 1644406;1644987;1652837;1666626;1712835;1739003;1746457;1847671;1847722;2118010;2118012;2174600;2219024;2219816;5017873;5092902 A005A18;A009C03;AL009959;B3GALT2_4411;CDC73;D1S2239;D1S2534;G20261;G32402;G64641;HRPT2__6588;RH120134;SGC32835;SHGC-37629;SHGC-76070;SHGC-76074 C1orf28;FIHP;FLJ23316;HPTJT;HRPT1;HRPT2;HYX OTTHUMP00000033765;Paf1/RNA polymerase II complex component;cell division cycle 73, Paf1/RNA polymerase II complex component, homolog;cell division cycle protein 73 homolog;hyperparathyroidism 1;hyperparathyroidism 2 protein;parafibromin APPROVED protein-coding ENSG00000134371 HGNC:16783 09581 607393 REVIEWED 8548362 CDCA4P3 cell division cycle associated 4 pseudogene 3 1 1 1 181062283 181062972 + 207831795 207832484 + 207658450 207659139 + 100420558 ABBA01048243;AL137789;AMYH02002575;NG_027199 pseudo HGNC:49772 INFERRED 1353399 CDCA6 cell division cycle associated 6 BG354579 HGNC:14627 1352573 CDC45 cell division cycle 45 The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 22 q11.21 3319674 3360395 + 19466984 19508135 + 19479479 19520612 + 1580863;6480464;6907045 10051334;10518787;11850621;12477932;12614612;12791985;12975309;15174051;15226314;15232106;15461802;15489334;15707391;15753125;16341674;16902406;16912045;17046832;17557111;17573775;17608804;17767920;17887956;18029348;18239674;18247557;18347181;19054765;19074885;19805216;20065034;20124417;20379614;20818375;21139048;21145461;21149733;21383955;21890473;21906983;21963094;21988832;22053931;22147708;22268729;22474384;22505724;22536402;23000965;23364835;23390603;23750504;24293646;24816145;9660782;9724329;9914182 8318 C9J911;C9K087;H7BZ91;O75419 ABBA01005411;AC000082;AC000087;AC000088;AF053074;AF062495;AF081535;AJ223728;AK293123;AK293338;AK302590;AK303274;AMYH02038041;AY358971;AY572790;BC006232;BC010022;BM751026;BT006792;CH471176;CT841513;HY016491;JA893796;NM_001178010;NM_001178011;NM_003504;XM_005261285;XM_005261286 AAC27289;AAC67521;AAD08998;AAH06232;AAH10022;AAP35438;AAQ89330;AAS66985;ABM83577;ABM84716;ABM86816;ABM92238;BAG56675;BAG56854;BAG63843;BAG64354;CAA11530;CAJ86443;CAK54407;CAK54706;CCV01316;EAX03036;NP_001171481;NP_001171482;NP_003495;O75419;XP_005261342;XP_005261343 Hs.474217;Hs.742418 1712022;2112464;2112468;2112474;2112498;2123825;5093798 A009W46;D22S1618;D22S1619;D22S1622;D22S1664;G32930;RH118685 CDC45L;CDC45L2;PORC-PI-1 CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like;CDC45 cell division cycle 45 homolog;CDC45 cell division cycle 45-like;CDC45-related protein;OTTHUMP00000197247;OTTHUMP00000197248;cell division control protein 45 homolog;cell division cycle 45 homolog;cell division cycle 45-like 2;human CDC45 APPROVED protein-coding ENSG00000093009 HGNC:1739 09145 603465 REVIEWED 8548366 CDCA4P4 cell division cycle associated 4 pseudogene 4 1 1 1 p 181166397 181168395 + 207935934 207937932 + 207762589 207764587 + 100188945 ABBA01048241;AL365178;AMYH02002576;NG_008470 pseudo HGNC:49773 INFERRED 1346860 CDCA8 cell division cycle associated 8 This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulator of mitosis and cell division. This protein is cell-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013] 1 1 1 p34.3 36436198 36453412 + 38158073 38175391 + 37692401 37709719 + 6480464 12188893;12477932;14702039;15249581;15260989;15489334;15561729;15635413;16239925;16291752;16427043;16436504;16547492;16565220;16571674;17099693;17207965;17241471;17483322;17716930;17881355;17956729;18029348;18243099;18311593;18591255;18946085;19322201;19530738;19710015;19951914;20360068;20430883;20562864;20739936;20803554;20929775;21139048;21554500;21906983;21988832;22724069;22797924;23000965;24144296;8125298 55143 Q53HL2 ABBA01023270;AC104336;AK001330;AK022104;AK022606;AK026423;AK222549;AK222568;AK291917;AK302116;AMYH02000800;AY508815;BC000703;BC001651;BC008079;BC016944;CH471059;NM_001256875;NM_018101 AAH00703;AAH01651;AAH08079;AAH16944;AAR91699;ADQ31660;BAA91629;BAB13961;BAB14125;BAD96269;BAD96288;BAF84606;BAG63495;EAX07324;EAX07325;NP_001243804;NP_060571;Q53HL2 Hs.524571 1653375;1678027;2119301;2219052 CDCA8_4535;RH66677;RH93640;SHGC-56435 BOR;Dasra B;FLJ10468;FLJ12042;MESRGP;dasra-B;hDasra-B DasraB;OTTHUMP00000004514;OTTHUMP00000004515;borealin;cell division cycle-associated protein 8;pluripotent embryonic stem cell-related gene 3 protein APPROVED protein-coding ENSG00000134690 HGNC:14629 13017 609977 REVIEWED 1350088 CDH10 cadherin 10, type 2 (T2-cadherin) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is predominantly expressed in brain and is putatively involved in synaptic adhesions, axon outgrowth and guidance. [provided by RefSeq, Jan 2011] 5 5 5 p14.2 24372049 24530965 - 24487209 24645085 - 24487100 24644978 - 1580863;6480464;8554872 10386616;10861224;12389209;12477932;16169070;16344560;19404256;19456320;20379614;2059658;22846907;23279374;24722188;7806582;8889549;9219219 1008 D6RJG0;Q9Y6N8;X5D8X5 AA209467;AB035303;ABBA01066629;ABBA01066630;AC010387;AC091885;AMYH02011040;AMYH02011041;BC144168;BM126883;CH471118;DA229466;KJ534806;KJ534807;KJ534808;NM_006727;XR_427656 AAI52829;AAI56819;AHW56446;AHW56447;AHW56448;BAA87417;EAX10742;NP_006718;Q9Y6N8 Hs.92489 1673338;1682265;1725235;1785502;1788974;1795534;2151041 CDH10_5;G65564;HSC1GA082;RH118910;RH12465;RH79643;SHGC-153792 OTTHUMP00000115830;OTTHUMP00000220799;T2-cadherin;cadherin 10 type 2;cadherin-10 APPROVED protein-coding ENSG00000040731 HGNC:1749 05187 604555 REVIEWED 1350338 CDCA5 cell division cycle associated 5 ENCODES a protein that exhibits chromatin binding (inferred); INVOLVED IN double-strand break repair; G1/S transition of mitotic cell cycle; mitotic chromosome condensation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cohesin complex; nucleus; plasma membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 11 11 11 q12.1 62171226 62177913 - 64833772 64851635 - 65066300 65084163 - 1580863;6480464;8554872 11111111;12188893;12477932;14702039;15146197;15489334;15837422;16169070;16964243;17081983;17349791;17361102;18029348;20360068;20379614;20551060;21111234;21115494;21890473;21987589;21988832;22833568;22939629;23455924;24098701 113130 B5MBX0;H0YCL8;H0YCR8;H0YCT9;H0YCZ9;Q3C1X4;Q96FF9 ABBA01024136;AK093670;AK291490;AL832526;AMYH02024952;AP003068;BC011000;CH471076;CN332525;NM_080668;XM_005273733;XM_005273734;XM_006718428 AAH11000;ABM84177;ABM87579;BAF84179;BAG52747;EAW74342;EAW74343;NP_542399;Q96FF9;XP_005273790;XP_005273791;XP_006718491 Hs.434886 1653407;2158742 A002B21;WI-21617 MGC16386;p35 OTTHUMP00000230376;OTTHUMP00000230378;cell division cycle-associated protein 5;sororin protein-coding ENSG00000146670 HGNC:14626 13016 609374 VALIDATED 1603885 CDCP2 CUB domain containing protein 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred) 1 1 1 p32.3 52892335 52907106 - 54604668 54618679 - 54138995 54153006 - 8554872 12477932;17388942 200008 Q5VXM1 ABBA01074727;AL357673;AMYH02001045;AMYH02001046;CH471059;CQ725837;NM_201546 AAI41441;EAX06701;NP_963840;Q5VXM1 Hs.568555 CUB domain-containing protein 2;OTTHUMP00000009800 protein-coding HGNC:27297 14122 612320 PROVISIONAL 1601855 CDCP1 CUB domain containing protein 1 This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 3 3 3 p21.31 45061726 45126310 - 45123766 45187914 - 45082274 45146422 - 6480464;8554872 11466621;12477932;12660814;12799299;12975309;14702039;14739293;15153610;15174051;15489334;15851033;16007225;16404722;16823897;16926850;17335815;17785447;18269919;18467693;18483259;18483744;19077003;19318475;19349359;19671673;19916495;20372833;20501830;20551327;21189288;21220330;21233420;21490433;21559459;21617380;21706059;21725358;21812858;21906983;21994943;22315226;22457534;23208492;23300860;23378636;23439492;23510015;23747337;24384474;8647901 64866 Q9H5V8 ABBA01024733;AC104165;AC105902;AF468010;AK023834;AK026187;AK026329;AK026622;AK314441;AMYH02006654;AMYH02006655;AMYH02006656;AMYH02006657;AY026461;AY167484;AY358779;AY375452;BC021099;BC069254;CD367582;CH471055;NM_022842;NM_178181;XM_005265404 AAH21099;AAH69254;AAI48606;AAI53170;AAK02058;AAO33397;AAO34538;AAQ89139;AAR21289;BAB14695;BAB15388;BAB15511;EAW64737;EAW64738;NP_073753;NP_835488;Q9H5V8;XP_005265461 Hs.476093 1691074;1756919;5024761 RH36905;RH91971;SHGC-144084 CD318;SIMA135;TRASK CUB domain-containing protein 1;OTTHUMP00000164120;OTTHUMP00000209568;membrane glycoprotein gp140;subtractive immunization M plus HEp3-associated 135 kDa protein;transmembrane and associated with src kinases APPROVED protein-coding ENSG00000163814 HGNC:24357 16696 611735 REVIEWED 1351773 CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008] 16 16 16 q21 49484273 49659540 - 64916794 65160015 - 64882891 65126112 - 1580863;6480464;8554872 10029089;10320525;10398117;10550312;10760957;11775026;12477932;14625392;14985702;15383628;15509545;15743489;16651616;17292535;17474147;18193170;18359978;18575746;18708358;18821672;19133007;19274078;19339270;19996288;20379614;2059658;21536877;21722156;21798287;21990376;22139084;22267545;22374749;23162011;23951053;23971040;24574497;24757152;7806582;7982033;8163513;9219219;9520111;9615235 1009 H3BP26;H3BPQ2;H3BQB5;H3BQH2;H3BR78;H3BSM4;H3BUU9;P55287 AB209760;ABBA01025387;ABBA01025388;AC010533;AC137643;AF060369;AF060370;AK291251;AK294872;AK297377;AK308000;AMYH02032193;BC013609;CH471092;D21254;D21255;L34056;NG_029491;NM_001797;XM_005255761;XM_005255762;XM_005255763;XM_005255764;XM_005255766;XM_005255767 AAA35622;AAD27755;AAD27756;AAH13609;ADZ15485;BAA04798;BAA04799;BAD92997;BAF83940;BAG59819;BAH11907;EAW83000;EAW83001;EAW83002;NP_001788;P55287;XP_005255818;XP_005255819;XP_005255820;XP_005255821;XP_005255823;XP_005255824 Hs.116471 1339102;1662222;1673354;1713585;1730155;1738785;1753695;1850001;2152888;2172012;2185066;2217138 CDH11_3314;D16S2861;D16S2936E;D16S3050;D16S3228;D16S3238;D16S438E;RH120288;RH68896;SHGC-10595;SHGC-107626;SHGC-7105 CAD11;CDHOB;OB;OSF-4 OB-cadherin;OTTHUMP00000174770;OTTHUMP00000174771;cadherin-11;osteoblast cadherin APPROVED protein-coding HGNC:1750 08960 600023 REVIEWED 1602109 CDCA7L cell division cycle associated 7-like INVOLVED IN positive regulation of cell proliferation; ASSOCIATED WITH Ciliary Dyskinesia, Primary, 7 (inferred); Melanoma (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 7 7 7 p15.3 21926218 21971211 - 21940517 21985542 - 21900899 21945924 - 6480464;8554872 12477932;12690205;12853948;14702039;15489334;15654081;15994933;16344560;16565220;16728402;16735438;16829576;17081983;17207965;17669426;18029348;18789977;19322201;19454010;20189936;21654740;21890473;21906983;21988832;22505724;23455924;23898208;24141559;24634210;24722188;7829101 55536 A8K8X5;C9IZR6;C9J8L0;C9JFL7;H7C1J6;Q96GN5 AA922229;ABBA01056686;ABBA01056687;AC074379;AC099653;AK022955;AK095965;AK292490;AK300781;AL359619;AL576822;AMYH02015346;AY161168;AY161169;BC009352;BC014630;BC025242;BC032576;BC039823;BI493265;BU753973;BX112809;BX422040;CH236948;CH471073;DA041070;DC331792;NM_001127370;NM_001127371;NM_018719 AAH09352;AAH14630;AAH25242;AAH32576;AAH39823;AAO17570;AAO17571;AAS02007;ADQ33006;BAB14330;BAF85179;BAG53177;BAG62445;CAB94887;EAL24271;EAW93740;EAW93741;EAW93742;EAW93743;EAW93744;NP_001120842;NP_001120843;NP_061189;Q96GN5 Hs.744069;Hs.745260 1688809;2137585 RH65966;RH75427 DKFZp762L0311;JPO2;R1;RAM2 OTTHUMP00000158537;OTTHUMP00000201868;OTTHUMP00000225272;cell division cycle-associated 7-like protein;transcription factor RAM2 protein-coding ENSG00000164649 HGNC:30777 11481 609685 VALIDATED 1319671 CDCA7 cell division cycle associated 7 This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 2 2 2 q31 167832966 167847127 + 174219561 174233718 + 173354833 173368990 + 6480464;8554872 11598121;12188893;12477932;14702039;15489334;15815621;15994934;16344560;16580749;17207965;19454010;21832049;22505724;23166294;23535729;23974705;24029427;24165912;8125298 83879 F8WBA7;Q9BWT1 ABBA01020752;AC092573;AK027628;AK027642;AK075134;AK223524;AK297097;AK297245;AK300949;AL833728;AL834186;AMYH02005254;AMYH02005255;AY029179;BC015124;BC027966;CH471058;DA531905;NM_031942;NM_145810 AAH15124;AAH27966;AAK31591;AAX82003;ADQ32287;BAB55245;BAB55258;BAC11425;BAD97244;BAG59610;BAG59725;BAG62578;CAH56253;CAH56357;EAX11158;EAX11159;EAX11160;EAX11161;NP_114148;NP_665809;Q9BWT1 Hs.470654 1739017;2145950;2171723;2187235 D2S1876;RH36259;RH36440;WIAF-2093 FLJ14722;FLJ14736;JPO1;MGC34109 OTTHUMP00000163138;OTTHUMP00000163139;OTTHUMP00000205094;OTTHUMP00000205095;c-Myc target JPO1;cell division cycle associated protein 7;cell division cycle-associated protein 7 APPROVED protein-coding ENSG00000144354 HGNC:14628 09874 609937 REVIEWED 1343875 CDH12 cadherin 12, type 2 (N-cadherin 2) This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Jul 2008] 5 5 5 p14.3 21615397 22740089 - 21750870 22853731 - 21750864 22853622 - 1580863;6480464;8554872 10191097;10861224;12477932;1436057;14702039;19473719;19557197;19567891;20379614;20453000;2059658;21573496;23502783;7545953;7731968;7806582;7982033;9122206;9219219;9615235 1010 P55289 ABBA01066575;ABBA01066576;ABBA01066577;ABBA01066578;ABBA01066579;ABBA01066580;ABBA01066581;ABBA01066582;ABBA01066583;ABBA01066584;ABBA01066585;ABBA01066586;ABBA01066587;ABBA01066588;ABBA01066589;ABBA01066590;ABBA01066591;ABBA01066592;ABBA01066593;ABBA01066594;ABBA01066595;ABBA01066596;ABBA01066597;ABBA01066598;ABBA01066599;ABBA01066600;ABBA01066601;ABBA01066602;ABBA01066603;AC022139;AC026716;AC034239;AC091938;AC093263;AC108089;AC109455;AC138854;AC138940;AC139497;AC140132;AC140171;AK092176;AK295123;AK314800;AMYH02011006;AMYH02011007;AMYH02011008;AMYH02011009;AMYH02011010;AMYH02011011;AMYH02011012;AMYH02011013;AMYH02011014;AMYH02011015;AMYH02011016;AMYH02011017;AMYH02011018;AMYH02011019;AMYH02011020;BC047608;CH471118;KC876950;KC876953;L33477;L34057;NM_004061;Z16831 AAA35623;AAB48539;AAH47608;ACE86767;ACE87453;BAG37328;BAG52492;BAH11982;EAX10734;EAX10735;EAX10736;NP_004052;P55289 Hs.113684 1334571;1338782;1677776;1682646;1683493;1684317;1689720;1704616;1713963;1718249;1725095;1748557;1748875;1749653;1750043;1761383;1785714;1785762;1795536;1849063;2162375;2162918;2171540;5119187;5123780;7184436;7185013 AFM225yc5;CDH12_520;D5S2845;D5S411;D6S1498;G10554;G16049;RH118843;RH119411;RH122894;RH26926;RH46723;RH70218;RH70898;RH71451;RH83560;SGC31172;SHGC-110162;SHGC-110541;SHGC-111335;SHGC-111727;SHGC-145400;SHGC-31574;SHGC-77883;SHGC-79735;SHGC-83455 CDHB;FLJ34857 Br-cadherin;N-cadherin 2;OTTHUMP00000115709;OTTHUMP00000220833;OTTHUMP00000225066;brain cadherin;brain-cadherin;cadherin, neural type, 2;cadherin-12;neural type cadherin 2;neuronal cadherin 2 2292817 MAMTS101_H APPROVED protein-coding ENSG00000154162 HGNC:1751 11081 600562 REVIEWED 3436175 CDH12P1 cadherin 12 (N-cadherin 2) pseudogene 1 5 5 5 q13.2 21842293 21842792 - 70156110 70156411 - 70860283 70860584 - 7731968 100093625 AC139834;NG_007328 pseudo HGNC:37698 INFERRED 3436174 CDH12P4 cadherin 12 (N-cadherin 2) pseudogene 4 5 5 5 q13.2 21842392 21842693 - 70428816 70429117 + 71132989 71133290 + 7731968 100093626 AC145138;AC146335;AC244260;NG_007329 pseudo HGNC:37700 INFERRED 1353127 CDH15 cadherin 15, type 1, M-cadherin (myotubule) This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 74303777 74327730 + 89238163 89261900 + 89171755 89195492 + 1580863;6480464;7240710;8554872;8699517 10861224;11058098;11136230;12052883;12477932;12634428;1427864;15489334;15923648;1840697;19012874;19851296;20198315;21906983;7806582;8059975;9030594;9168809;9219219;9545347;9615235 1013 P55291 ABBA01014160;ABBA01014161;ABBA01014162;ABBA01014163;AC009113;AK308631;AMYH02032658;AW452260;BC008951;CH471184;D83542;NG_012055;NM_004933 AAH08951;ABM84203;ABM87607;BAA12012;EAW66741;EAW66742;NP_004924;P55291 Hs.148090 1679854;1766277 RH80776;SHGC-149631 CDH14;CDH3;CDHM;MCAD;MRD3 OTTHUMP00000175347;cadherin-14;cadherin-15;cadherin-3;muscle cadherin;muscle-cadherin APPROVED protein-coding ENSG00000129910 HGNC:1754 00225 114019;612580 REVIEWED 3436176 CDH12P3 cadherin 12 (N-cadherin 2) pseudogene 3 5 5 5 q13.2 21842392 21842693 - 69428502 69428803 + 70132675 70132976 + 7731968 100093624 AC139494;AC140134;AC244635;NG_007327 pseudo HGNC:37699 INFERRED 1344160 CDH12P2 cadherin 12 (N-cadherin 2) pseudogene 2 5 5 5 q13.1 21842392 21842693 - 69280926 69281427 - 69985099 69985600 - 10369862;7731968 1011 AC004999;AC139277;AC146335;AC244635;AC245690;NG_007326 C41-CAD;CDH12P APPROVED pseudo HGNC:1752 INFERRED 734374 CDH13 cadherin 13 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] 16 16 16 q23.3 66958625 68131309 + 82660399 83830215 + 82626794 83796610 + 734735;1580863;734736;2293014;2298985;2293540;2293542;2293546;2298986;2298987;2293544;2293539;2293543;2293545;2293553;2293555;6480464;8554872 10493953;11326751;11389090;12376824;17029216;17548682;17623056;17764565;17971904;18094410;18316604;18387661;18519763;8673923;9737784 10601632;10737605;11027617;11642747;12060406;12067979;12177241;12477932;12489108;12697869;14579115;14718574;14729458;14750164;14997203;15146197;15210937;15251938;15292927;15364621;15489334;15489335;15703273;15816843;15821437;16013438;16099944;16133358;16222700;16273386;16335952;16344560;16602701;16873731;17077306;17094449;17554300;17573778;17765896;17873891;17874043;17903302;17960794;17967182;18029348;18264096;18337602;18349282;18411300;18425332;18519826;18550521;18553387;18627351;18656243;18729198;18821565;18839057;18957941;19116147;19165155;19199263;19304780;19336575;19368692;19463088;19581569;19638398;19726744;19799609;19955471;20030915;20039275;20039365;20090771;20121546;20125193;20161066;20189936;20195266;20201926;20379614;20446882;2059658;20694014;20732627;20800221;20876611;20887962;21071540;21252481;21298366;21331343;21502573;21617638;21672320;21710692;21771975;21796503;21815997;21872196;21900206;22065538;22105624;22235028;22321935;22414547;22479202;22592160;22695491;22952603;23069940;23149075;23235385;23358160;23369463;23382691;23411345;23463326;23502783;23625515;23717212;23793025;23936508;23967269;24009259;24010971;24024966;24025145;24105470;24136461;24142632;24159190;24204828;7806582;7982033;8889548;9219219;9468307;9615235;9650591;9852687 1012 B7Z3H7;B7Z9B1;F5H7W7;H3BQH4;H3BRL7;H3BTF2;H3BV21;P55290 AB001103;ABBA01016933;ABBA01016934;ABBA01016935;ABBA01016936;ABBA01016937;ABBA01016938;ABBA01016939;ABBA01016940;ABBA01016941;ABBA01016942;ABBA01016943;ABBA01016944;ABBA01016945;ABBA01016946;AC009028;AC009063;AC009119;AC009142;AC087189;AC092340;AC092351;AC098804;AC099506;AC106814;AC125793;AI802411;AK294277;AK295886;AK298612;AK304592;AK304733;AK307862;AMYH02032529;AMYH02032530;AMYH02032531;AMYH02032532;AMYH02032533;AMYH02032534;AMYH02032535;AMYH02032536;AMYH02032537;AMYH02032538;AMYH02032539;AMYH02032540;AMYH02032541;AMYH02032542;AMYH02032543;AMYH02032544;AMYH02032545;AMYH02032546;AMYH02032547;AMYH02032548;AMYH02032549;AMYH02032550;AMYH02032551;AU123178;BC012615;BC028624;BC030653;BG911233;BI756586;BU162665;BU627784;CA445317;CB321814;CF618908;CH471114;CK725094;CN263227;CV024366;DA561809;DA685616;DB003683;DC376661;EU190357;EU190358;KC877608;KC877613;KC877618;KF456214;L34058;NM_001220488;NM_001220489;NM_001220490;NM_001220491;NM_001220492;NM_001257;R41787;U59288;XM_006721120 AAA35624;AAB18911;AAH28624;AAH30653;ABM82639;ABM85816;ABW97440;ABW97441;BAA32411;BAH11722;BAH12213;BAH12826;BAH14221;BAH14247;EAW95515;NP_001207417;NP_001207418;NP_001207419;NP_001207420;NP_001207421;NP_001248;P55290;XP_006721183 Hs.654386;Hs.661776 1336667;1337228;1339247;1645306;1662748;1666902;1678081;1686756;1700346;1704654;1704684;1705934;1715585;1716651;1723271;1732762;1733510;1738501;1738611;1738671;1738715;1744775;1751115;1755997;1758741;1764341;1766719;1766729;1777005;1779934;1783432;1795240;1849796;1851522;2130048;2142674;2148665;2165670;5021890;7186138 AFMB338ZB1;CDH13_7;D16S2641;D16S2692;D16S2756;D16S2789;D16S2820;D16S2949;D16S3091;D16S402;D16S422;D16S735;D6S961;DXS7657;G17933;GDB:568474;RH103793;RH120935;RH121582;RH122324;RH65167;RH92366;SHGC-105014;SHGC-142813;SHGC-147944;SHGC-149995;SHGC-151059;SHGC-152003;SHGC-154183;SHGC-156033;SHGC-30008;SHGC-37041;SHGC-53490;SHGC-60721;SHGC-61168;SHGC-77957;SHGC-78198;SHGC-78995;ha2207 CDHH;P105;T-cad H-cadherin;H-cadherin (heart);T-cadherin;cadherin 13, H-cadherin (heart);cadherin-13;heart cadherin;heart-cadherin;truncated cadherin;truncated-cadherin APPROVED protein-coding ENSG00000140945 HGNC:1753 03219 601364 REVIEWED 1316200 CDH19 cadherin 19, type 2 This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012] 18 18 18 q22.1 60889278 60989190 - 64168320 64271375 - 66501083 66604138 - 1580863;6480464;7240710;8554872 10861224;10995570;12118382;12477932;12975309;18184143;18364357;20358601;7566098;9615235 28513 F8VVI9;J3KTP3;J3QS15;Q9H159 AA331759;ABBA01056249;ABBA01056250;AC090393;AC091643;AF047826;AJ007607;AK304000;AK315257;AMYH02034905;AMYH02034906;AY358654;BC015877;CH471096;NM_001271028;NM_021153;NR_073130;XM_006722440;XM_006722441 AAC05117;AAH15877;AAQ89017;BAG64917;CAC13126;EAW63178;NP_001257957;NP_066976;Q9H159;XP_006722503;XP_006722504 Hs.42771 1340491;1661202;1715377;2167019;2172770;2218354 CDH19_4537;D18S857;RH120521;RH65744;SHGC-32555;STS-N26740 CDH7;CDH7L2 OTTHUMP00000163687;cadherin-19 APPROVED protein-coding ENSG00000071991 HGNC:1758 04311 601390;603016 REVIEWED 737413 CDH1 cadherin 1, type 1, E-cadherin (epithelial) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 53280506 53378750 + 68771128 68869445 + 68737292 68835541 + 1599556;1599548;1599549;1580863;2289479;2289488;2289491;2289492;2289494;2289497;2289447;2289450;2289487;2289489;2289490;2289493;2289498;2289638;2289457;2296046;2296045;2289683;5132892;5132878;5132890;6480464;6484113;6907045;7240710;7242059;8554872;8699517 15203750;15785075;15831593;16329148;16837908;16924102;17167984;17295234;17649807;17656222;17660459;17760743;17894941;17906660;18008331;18035404;18056176;18097581;18183597;18210882;18213475;18225549;18295959;20495078;21540309 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999 H3BNC6;H3BVI7;J3QKP1;P12830 AB025105;AB025106;ABBA01025502;ABBA01025503;ABBA01025504;ABBA01025505;AC099314;AI890107;AK290012;AK297913;AK309703;AK311198;AK312551;AMYH02032262;AMYH02032263;AMYH02032264;AMYH02032265;BC013851;BC141838;BC144283;BC146662;CH471092;D49685;DQ090940;EU709494;L08599;L34545;L34789;NG_008021;NM_004360;S72492;X12790;X52279;Z13009;Z18923;Z35402 AAA21764;AAA61259;AAD14108;AAI41839;AAI46663;AAY68225;ACD87624;BAA08537;BAA88956;BAA88957;BAF82701;BAG35448;BAG60232;CAA31279;CAA36522;CAA78353;CAA79356;CAA84586;EAW83242;EAW83243;EAW83244;EAW83245;NP_004351;P12830 Hs.461086 1646704;1683090;1685189;1688634;1743611;1765829;1769104;1773113;1792000;1792042;1792044;1792046;1792048;1792050;1794912;1795542;1852424;2114571;5022578;5022651;5120566;5120568;5120570;5120572;5120574;5120576;5120578;5120580;5120582;5120584;5120586;5120588;5492113 A008N17;CDH1_96.2;Cdh1;D11S2921;D1S1423;GDB:361044;GDB:361074;GDB:361084;GDB:361089;GDB:361093;GDB:361098;GDB:361103;GDB:361109;GDB:361113;GDB:361120;GDB:361125;GDB:361128;GDB:361131;PMC134726P1;PMC135805P1;PMC135805P2;PMC135805P3;PMC135805P4;PMC135805P5;PMC84611P1;RH64967;RH64971;RH65826;RH68244;RH91417;SHGC-149254;SHGC-33499;STS-T85105 Arc-1;CD324;CDHE;ECAD;LCAM;UVO CAM 120/80;E-Cadherin;OTTHUMP00000174868;cadherin 1;cadherin 1, E-cadherin (epithelial);cadherin-1;calcium-dependent adhesion protein, epithelial;cell-CAM 120/80;epithelial cadherin;uvomorulin APPROVED protein-coding ENSG00000039068 HGNC:1748 01885 114480;137215;167000;176807;192090;608089 REVIEWED 1313454 CDH18 cadherin 18, type 2 This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] 5 5 5 p14.3 20134951 20650014 - 19473140 20575972 - 19473031 20575863 - 1580863;6480464;8554872 10191097;10207020;10861224;12477932;16344560;20180417;20379614;20800221;21906983;21988832;7806582;9030594;9219219 1016 D6RER2;D6RIH8;H0YAK3;Q13634 ABBA01054547;ABBA01054548;ABBA01054549;ABBA01054550;ABBA01054551;ABBA01054552;ABBA01054553;AC010490;AC025173;AC093221;AC093303;AC094103;AC108128;AC109474;AC113350;AC113397;AC118463;AK289547;AK295087;AK308745;AMYH02010981;AMYH02010982;AMYH02010983;AMYH02010984;AMYH02010985;BC031051;BI549773;CA425592;CH471168;DA368944;DC310391;KC876935;KC876936;KC876939;KC876942;KC876951;KC876952;KF454884;KF457863;KF457868;NM_001167667;NM_001291956;NM_001291957;NM_004934;U59325;XM_005248228;XM_006714435;XM_006714436;XM_006714437 AAB02933;AAH31051;ABM84477;ABM84862;BAF82236;BAG58128;EAW68851;NP_001161139;NP_001278885;NP_001278886;NP_004925;Q13634;XP_005248285;XP_006714498;XP_006714499;XP_006714500 Hs.317632 1711282;1749533;1750425;1750627;1771603;1779778;1785600;1795540;2125532;2127367;2132033;2173988;5022651 AFM207ya5;CDH18_1706;D11S2921;L28235;RH65419;RH70681;SHGC-111238;SHGC-111736;SHGC-111917;SHGC-153750;SHGC-155303;SHGC-89290;WI-16265 CDH14;CDH14L;CDH24 OTTHUMP00000115690;OTTHUMP00000220998;OTTHUMP00000220999;OTTHUMP00000221000;OTTHUMP00000221001;OTTHUMP00000221002;cadherin-14;cadherin-18;cadherin-like 24;ey-cadherin APPROVED protein-coding ENSG00000145526 HGNC:1757 04314 603019 REVIEWED 733806 CDH17 cadherin 17, LI cadherin (liver-intestine) This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 8 8 8 q22.1 91325519 91415635 - 95139394 95229531 - 94127166 94217303 - 1580863;6480464;8554872 10191097;11193569;11337467;11413113;12477932;12824888;15023525;15178443;15279905;15302935;15701831;16344560;16951245;17828401;18342884;18353622;18552820;19676131;19736353;19956853;20204409;20393816;20398667;20444732;20500517;20568120;20580775;21323956;22009269;22286087;22791949;22810971;23053896;23298905;23326130;23554857;23557862;23604127;24437456;603017;8153632;9615235 1015 B2R778;E5RJT3;E7EN24;H0YBL0;Q12864 ABBA01037448;ABBA01037449;ABBA01037450;ABBA01037451;AI566493;AK130441;AK300638;AK301001;AK312873;AMYH02018422;AMYH02018423;AMYH02018424;AP003351;AP003478;AU098586;BC112013;BC113464;BF591263;BX483700;CH471060;CS223371;DB009107;NM_001144663;NM_004063;U07969;X83228 AAA19021;AAI12014;AAI13465;ADR83433;BAG35725;BAG62327;BAG62620;CAA58231;CAJ46925;EAW91708;NP_001138135;NP_004054;Q12864 Hs.591853 1712987;1721157;1795538;2120168;2133112;2177639;2185418;5017433;5094356 CDH17_522;D8S1071;D8S1083;G54631;G59414;RH120584;SGC35251;STS-T76997;STS-X83228 CDH16;FLJ26931;HPT-1;HPT1;MGC138218;MGC142024 HPT-1 cadherin;LI cadherin;LI-cadherin;OTTHUMP00000226595;OTTHUMP00000226596;OTTHUMP00000226597;cadherin 17;cadherin-16;cadherin-17;human intestinal peptide-associated transporter HPT-1;human peptide transporter 1;intestinal peptide-associated transporter HPT-1;liver-intestine cadherin APPROVED protein-coding ENSG00000079112 HGNC:1756 04312 603017 REVIEWED 1313468 CDH20 cadherin 20, type 2 This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008] 18 18 18 q21.33 55875642 55940232 + 59000815 59237123 + 61333582 61569882 + 6480464;8554872 10995570;12477932;14702039;19690890;20379614;23251661 28316 Q9HBT6 ABBA01056186;ABBA01056187;ABBA01056188;AC006203;AC025656;AC090409;AF217289;AK094366;AK290190;AK313809;AMYH02034856;AMYH02034857;AMYH02034858;BC101047;BC101048;BC101049;CH471096;NM_031891;XM_005266682;XM_005266684 AAG23739;AAI01048;AAI01049;AAI01050;BAC04340;BAF82879;BAG36545;EAW63108;NP_114097;Q9HBT6;XP_005266739;XP_005266741 Hs.671510 2218356 CDH20_4538 CDH7L3;Cdh7;FLJ37047 OTTHUMP00000163656;cadherin-20 APPROVED protein-coding ENSG00000101542 HGNC:1760 10429 605807 REVIEWED 732591 CDH22 cadherin 22, type 2 This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008] 20 20 20 q13.1 41513832 41591744 - 44802372 44937137 - 46173733 46308498 - 69804;1580863;6480464;8554872 8626716 11780052;12477932;12630923;18602983;18854154;19440036;19546606;20650312;23314748;23382691;8619474;9110174 64405 A8K0L9;Q49AS4;Q9UJ99 ABBA01052674;ABBA01052675;ABBA01052676;ABBA01052677;ABBA01052678;AF035300;AK289584;AL031687;AL445286;AMYH02037158;BC031232;BC039056;BC136526;BQ102264;CH471077;NM_021248;XM_006723856;XM_006723857;XM_006723858 AAB88183;AAH31232;AAI36527;BAF82273;EAW75754;EAW75755;NP_067071;Q9UJ99;XP_006723919;XP_006723920;XP_006723921 Hs.472861 1659970;1775835;7187616 SHGC-31223;WI-21844 C20orf25;MGC39564;dJ998H6.1 OTTHUMP00000031774;PB-cadherin;cadherin 22;cadherin-22;cadherin-like 22;ortholog of rat PB-cadherin;pituitary and brain cadherin APPROVED protein-coding ENSG00000149654 HGNC:13251 13018 609920 REVIEWED 1323191 CDH26 cadherin 26 Cadherins are a family of adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization and migration. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This gene encodes a cadherin domain-containing protein whose specific function has not yet been determined. Alternative splicing occurs at this locus and two transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 55274111 55328792 + 58533471 58588772 + 59958416 60014079 + 6480464;8554872 10835267;11780052;12477932;14702039;16344560;19824886;20379614 60437 H7BY79;Q8IXH8;Q9NTY2 AA454986;ABBA01005956;AF169690;AK055202;AK074477;AL109928;AMYH02037387;AMYH02037388;BC062570;BC136306;BC143931;CH471077;DB218314;NM_021810;NM_177980;XM_006723846;XM_006723847 AAF89687;AAH62570;AAI36307;BAB85093;BAG51485;EAW75417;EAW75418;EAW75419;EAW75420;EAW75421;EAW75422;EAW75423;NP_068582;NP_817089;Q8IXH8;XP_006723909;XP_006723910 Hs.729046 1670301;1673022;1691246;1720757;2182222;2218358 CDH26_4539;D20S759;G59352;RH94129;SHGC-54233;Z94635 VR20 OTTHUMP00000031432;OTTHUMP00000031433;OTTHUMP00000174474;OTTHUMP00000174475;cadherin-like 26;cadherin-like protein 26;cadherin-like protein VR20 APPROVED protein-coding ENSG00000124215 HGNC:15902 13020 REVIEWED 1323200 CDH16 cadherin 16, KSP-cadherin This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011] 16 16 16 q22.1 51450284 51461025 - 66942025 66952887 - 66908122 66918984 - 1580863;6480464;8554872 10409308;10828602;12477932;12851251;12975309;15023525;15489334;15670782;15886705;17895753;18343407;21988832;22028439;7615566;8125298;9721215 1014 H3BSG2;H3BSV3;I3L418;J3QLA1;O75309 ABBA01025423;AC009084;AF016272;AI733140;AK075243;AK225544;AK225552;AK298255;AK298334;AK313101;AMYH02032220;AY358911;BC027912;BI759247;CH471092;DC361453;NM_001204744;NM_001204745;NM_001204746;NM_004062;XM_005255768;XM_005255769;XM_005255770 AAC34255;AAH27912;AAQ89270;ABM84733;ABW03631;BAG35925;BAG60520;BAG60583;EAW83050;EAW83051;EAW83052;NP_001191673;NP_001191674;NP_001191675;NP_004053;O75309;XP_005255825;XP_005255826;XP_005255827 Hs.513660 KSP-cadherin;OTTHUMP00000174814;OTTHUMP00000174815;cadherin-16;kidney-specific cadherin APPROVED protein-coding ENSG00000166589 HGNC:1755 11929 603118 REVIEWED 1343938 CDH4 cadherin 4, type 1, R-cadherin (retinal) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 20 20 20 q13.3 56566480 57250388 + 59827482 60515673 + 61252426 61940617 + 1580863;6480464;8554872 10191097;10516427;10662782;10760957;10799302;11780052;12477932;14702039;15143071;15489334;15548679;16786001;17903297;18029348;19724895;19851296;20198315;20228063;20379614;20467438;2059658;20834067;20932310;21658281;21665361;22219182;22820501;23251661;23279374;23793025;23934736;24144296;24322204;24429027;7806582;7982033;798233;8889548;9219219 1002 P55283 AA213385;ABBA01040115;ABBA01040116;ABBA01040117;ABBA01040118;ABBA01040119;ABBA01040120;ABBA01040121;ABBA01040122;ABBA01040123;ABBA01040124;ABBA01040125;ABBA01040126;ABBA01040127;ABBA01040128;ABBA01040129;ABBA01040130;ABBA01040131;ABBA01040132;AC231535;AI422259;AK025855;AK091496;AK092092;AK124724;AK308345;AK315192;AL079336;AL109911;AL160412;AL162457;AL365229;AL365401;AL391316;AL450463;AL834206;AMYH02037397;AMYH02037398;AMYH02037399;AMYH02037400;AMYH02037401;AMYH02037402;AMYH02037403;AMYH02037404;AMYH02037405;AMYH02037406;BC101651;BC112150;BM664894;BX640515;CH471077;DC330816;KF456979;KF456982;KF510476;KF511320;L34059;NM_001252338;NM_001252339;NM_001794 AAA35627;AAI01652;AAI12151;BAB15259;BAC03677;BAG37632;BAG54080;CAD38893;EAW75408;EAW75409;EAW75410;NP_001239267;NP_001239268;NP_001785;P55283 Hs.473231 1340283;1661894;1662177;1662424;1675782;1707994;1743321;1752103;1757933;1758363;1758513;1763727;1765549;1774266;1774819;1848071;2144656;2161395;2171818;2185591 D13S707;D1S513;G13391;GDB:314889;RH65523;RH76588;SHGC-106055;SHGC-146884;SHGC-147401;SHGC-148162;SHGC-148547;SHGC-149017;SHGC-84661;Z94317;Z94350;Z94484;Z94494;Z94541;Z94684;Z94692 CAD4;FLJ22202;FLJ40547;MGC126700;MGC138355;R-CAD;RCAD OTTHUMP00000031444;R-cadherin;cadherin 4, type 1, preproprotein;cadherin-4;retinal cadherin APPROVED protein-coding ENSG00000179242 HGNC:1763 04304 603006 REVIEWED 1353170 CDH24 cadherin 24, type 2 ENCODES a protein that exhibits alpha-catenin binding; beta-catenin binding; calcium ion binding; INVOLVED IN single organismal cell-cell adhesion; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell-cell junction; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 14 14 14 q11.2 3378962 3389437 - 23516270 23526747 - 23047061 23057538 - 1580863;6480464;8554872 12477932;12734196;12975309;16169070;7806582;9219219 64403 Q86UP0 ABBA01061304;AK025342;AK057922;AK289576;AK307746;AL132780;AL137477;AMYH02028864;AY260900;AY260901;AY358199;BC009332;BC019067;BC069190;BC094810;BC110867;BC142724;BX110381;BX248303;BX248750;CH471078;DC310509;NM_022478;NM_144985 AAH94810;AAI10868;AAI72283;AAI72574;AAP20590;AAP20591;AAQ88566;BAB15116;BAB71613;BAF82265;CAB70758;CAD62630;CAD66557;EAW66189;EAW66190;EAW66191;EAW66192;NP_071923;NP_659422;Q86UP0 Hs.155912 1847807 WI-20153 CDH11L;FLJ25193;MGC131880 OTTHUMP00000027927;OTTHUMP00000164553;OTTHUMP00000245977;cadherin-24;cadherin-like 24 APPROVED protein-coding ENSG00000139880 HGNC:14265 13019 VALIDATED 1316530 CDH5 cadherin 5, type 2 (vascular endothelium) This gene is a classical cadherin from the cadherin superfamily and is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classic cadherin by imparting to cells the ability to adhere in a homophilic manner, the protein may play an important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 50909482 50944587 + 66400525 66438689 + 66366622 66404786 + 1598391;1580863;6480464;6484113;8554872 14695457 10063232;10428027;10681592;10861224;11490021;11777950;11855855;11900554;11937138;11950700;11950930;12003790;12010652;12088286;12095140;12130501;12219009;12234928;12243749;12393634;12413882;12426320;12477932;12584200;12584244;12595527;12626512;12658549;12740216;14678493;14699141;15220112;1522121;15374707;15572031;15601837;15723073;15731052;15735710;15861137;15897346;15980433;16027153;16115630;16322481;16335952;16481735;16893970;16909109;17057644;17060906;17159998;17194459;17638851;17761936;18163230;18180305;18195090;18272754;18287330;18316602;18337748;18402976;18420943;18628953;18639387;18641366;18804209;18979298;18990449;19059243;19212436;19345098;19356953;19420236;19633358;19735546;19760520;19913121;19915944;19996314;20032304;20048167;20123970;20167365;20224040;20386594;20446815;20463083;20470859;20589320;2059658;20628086;20693433;20711993;20732872;20810734;20926024;21168935;21190742;21190990;21269615;21439626;22040113;22064597;22133903;22213015;22391038;22398721;22562824;22623531;22648953;22720111;22734943;22833667;22865455;22922959;22975327;23074279;23079531;23118492;23159740;23168683;23325790;23376478;23465821;23474739;23554480;23635392;23645533;23868598;23887639;23918034;24046447;24061286;24106276;24136461;24227887;24430214;24439748;24487320;24498454;7627717;7806582;9219219;9378757;9434630;9615235;9739078 1003 B4DTR2;H3BPG1;H3BQ82;H3BR11;H3BR64;I3L1J2;P33151 AB035304;AB209908;ABBA01025403;ABBA01025404;ABBA01025405;AC132186;AK300299;AK300322;AK300461;AMYH02032203;BC096363;BC096364;BC096365;BC117520;CH471092;DC381809;NM_001795;U84722;X59796;X79981 AAB41796;AAH96363;AAH96364;AAH96365;AAI17521;BAA87418;BAD93145;BAG62052;BAG62074;BAG62180;CAA42468;CAA56306;EAW83009;NP_001786;P33151 Hs.76206 1795544;2130590;2150587 CDH5_1;D16S3319;SHGC-60813 7B4;CD144;FLJ17376 7B4 antigen;OTTHUMP00000174777;VE-cadherin;cadherin 5, type 2, VE-cadherin (vascular epithelium);cadherin-5;cd144 antigen;endothelial-specific cadherin;vascular endothelial cadherin APPROVED protein-coding ENSG00000179776 HGNC:1764 03075 601120 REVIEWED 1353368 CDH3 cadherin 3, type 1, P-cadherin (placental) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene have been associated with congential hypotrichosis with juvenile macular dystrophy. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 53187169 53242286 + 68678151 68732959 + 68644248 68699054 + 1600806;1600801;1580863;6480464;7240710;8554872;8699517 15771627;15805154 10381631;10460003;10655458;10910767;11066045;11106563;11401672;11544476;11889072;11891861;11909859;12021924;12112590;12417987;12445216;12477932;12800191;12876286;12919105;1427864;15146197;15375751;15489334;15817166;15967043;16007225;16115928;17342797;18074863;18199584;18230143;18329483;18330089;18637117;18637128;18811693;18829530;18927288;19043399;19076794;1924379;19469909;19528483;19846933;19850743;19882246;19901964;19915572;20118984;20140736;20203473;20204300;20338046;20385540;20473917;20621328;20668551;20844743;20852590;20860798;21317933;21703417;21781454;21906983;22209340;22348569;22389315;22531681;22696062;23143461;23180380;23334344;23398382;23405208;23682078;23740836;24139214;24559158;2702654;2793940;7534041;7538474;7806582;8056851;8074995;8125298;8227214;8660921;9219219;9250159;9359492;9615235;9815605 1001 J3KRQ1;J3QKW6;J3QL41;J3QL75;J3QR34;J3QR60;P22223 ABBA01025495;ABBA01025496;ABBA01025497;ABBA01025498;ABBA01025499;AC099314;AC126773;AI149268;AK225396;AK296968;AK312554;AMYH02032254;AMYH02032255;AMYH02032256;AMYH02032257;BC014462;BC041846;BQ945506;BU543746;CA489015;CA489338;CA489357;CH471092;CN365479;CS174724;JA885907;JA886341;JA886775;JA887209;JA910254;JB234906;JB243606;JB254221;JB257194;JB264115;JB276735;JB311546;JB313836;JB318830;JB359895;JB819630;JB820064;NG_009096;NM_001793;X63629;X95824 AAH14462;AAH41846;ACE86889;ACE87576;BAG35451;BAG59512;CAA45177;CAA65093;CAJ34555;CCQ77686;CCQ77695;CCQ77704;CCQ77713;CCV20012;CDH48192;CDH61614;CDH61668;CDH61687;CDH88985;CDH92523;CDH92537;CDH92548;CDH92795;CDH92892;CDI44667;CDI44676;EAW83237;EAW83238;EAW83239;NP_001784;P22223 Hs.191842 1762687;1771708;2130233;2217140 CDH3_526;D16S3206;SHGC-146481;SHGC-61141 CDHP;HJMD;PCAD OTTHUMP00000174867;cadherin-3;calcium-dependent adhesion protein, placental APPROVED protein-coding ENSG00000062038 HGNC:1762 00227 114021;225280;601553;612580 REVIEWED 733851 CDH23 cadherin-related 23 This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013] 10 10 10 q22.1 66439492 66858274 + 73156691 73575704 + 71396934 71815947 + 737781;704405;1580863;704404;6480464;7240710;8547667;8547671;8547536;8662280;8554872;8699517;8662283;8662281;8662279;8662287 11138008;12910270;14609561;16598924;17850630;19804752;20212494;22177415;22581638 11090341;11138009;11347906;11386759;11597768;11857743;12075507;12407180;12477932;12485990;12522556;12588794;12975309;14702039;15537665;15660226;15829536;15882574;16344560;16385451;16550584;16679490;17234811;17672918;18273900;18323324;18348277;18368581;18429043;18484607;18957941;19268276;19297620;19683999;19756182;20301442;20301607;20379614;20467438;20498078;20801516;20844544;21940737;22404213;22413011;22424883;22879593;22899989;22951725;23451239;23503679;23641064;23770805;24322204;24448297;24618850;24767429;2706105;8817348;8889548;8894709 64072 A5D6V9;B1AVV0;G3XCN8;G8JLI8;Q6P152;Q8N5B3;Q9H251;R4GN22;R4GN92 AB053445;AB058715;ABBA01019639;AC012469;AF312024;AK074160;AK093818;AL122081;AL359183;AL731541;AL772287;AMYH02023298;AMYH02023299;AMYH02023300;AMYH02023301;AMYH02023302;AY010111;AY358617;AY563161;AY563162;AY563165;AY563166;BC011570;BC032581;BC065284;BC108254;BC136976;BC136977;BC139903;BM673126;BU728250;CH471083;DB333699;NG_008835;NM_001171930;NM_001171931;NM_001171932;NM_001171933;NM_001171934;NM_001171935;NM_001171936;NM_022124;NM_052836;XM_006717940;XM_006717941;XM_006717942 AAG27034;AAG48303;AAH11570;AAH32581;AAH65284;AAI08255;AAI36977;AAI36978;AAI39904;AAQ88980;AAT72161;AAT72162;AAT72165;AAT72166;ADZ15527;BAB47441;BAB61902;BAB84986;BAC04231;CAB59256;EAW54426;EAW54427;EAW54428;EAW54429;EAW54430;EAW54431;EAW54432;NP_001165401;NP_001165402;NP_001165403;NP_001165404;NP_001165405;NP_001165406;NP_001165407;NP_071407;NP_443068;Q9H251;XP_006718003;XP_006718004;XP_006718005 Hs.656032 1335402;1337296;1342220;1342232;1659716;1706220;1709402;1726707;1730998;1731409;1759431;1767001;1782082;2127052;2132063;2132065;2138594;2144039;2144317;2160811;2164609;5022578;5037552;5094838;5105871;5127925;7188002;7189445;7189447 CDH23;D10S1650;D10S1694;D10S2338;D10S338;D10S412;D10S584;D10S606;D1S1423;D8S2279;G62740;GDB:313461;RH44693;RH45898;RH48031;SGC38181;SHGC-151188;SHGC-151195;SHGC-152305;SHGC-152620;SHGC-154025;SHGC-80642;SHGC-81728;STS-N39237;STS-R80211;STS-W72919 CDHR23;DFNB12;DKFZp434P2350;FLJ00233;FLJ36499;KIAA1774;KIAA1812;MGC102761;USH1D OTTHUMP00000020837;OTTHUMP00000020838;cadherin related 23;cadherin-23;cadherin-like 23;cadherin-related family member 23;otocadherin APPROVED protein-coding ENSG00000107736 HGNC:13733 05699 601067;601386;605516 REVIEWED 735712 CDH6 cadherin 6, type 2, K-cadherin (fetal kidney) This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011] 5 5 5 p13.3 31074550 31205743 + 31193762 31329253 + 31193655 31329146 + 1580863;6480464;8554872 10191097;10207020;10861224;10940709;12477932;14702039;15489334;16335952;16344560;18029348;2059658;20634887;20709820;22001757;24069422;7743525;7806582;9205085;9219219;9506208;9520111;9615235 1004 D6RF86;P55285 ABBA01066716;AC091898;AC113386;AK024238;AK291290;AL049227;AMYH02011111;AU130185;BC000019;BC013907;CH471118;D31784;DC353791;NM_004932 AAH00019;BAA06562;BAF83979;EAX10763;EAX10764;EAX10765;NP_004923;P55285 Hs.124776;Hs.171054 1337815;1683118;1794306;1795546;2126867;2147944;2157968;2180692 CDH6_424;D5S108;D5S599;PMC311006P2;RH48923;RH98465;SGC35576;SHGC-11631 CAD6;DKFZp564N1116;FLJ14176;KCAD K-cadherin;OTTHUMP00000115839;OTTHUMP00000220908;cadherin 6, K-cadherin (fetal kidney);cadherin, fetal kidney;cadherin-6;kidney cadherin APPROVED protein-coding ENSG00000113361 HGNC:1765 04305 603007 REVIEWED 1315712 CDH7 cadherin 7, type 2 This gene is a type II classical cadherin from the cadherin superfamily. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types and the maintenance of orderly structures. Alternative splicing in the 5' UTR of this gene yields variant transcripts encoding the same protein. [provided by RefSeq, Jul 2008] 18 18 18 q22.1 60138894 60269263 + 63417488 63548175 + 65750252 65880939 + 1580863;6480464;8554872 10861224;10995570;12477932;15273735;19200257;20379614;21378379;21988832;23247143;24025145;24554215;7806582;9219219;9615235 1005 F5H5X9;Q9ULB5 AB035301;ABBA01056243;ABBA01056244;ABBA01056245;AC023394;AC090358;AJ007611;AMYH02034901;AMYH02034902;BC036786;CH471096;NM_004361;NM_033646 AAH36786;BAA87415;CAC13127;EAW63173;EAW63174;EAW63175;NP_004352;NP_387450;Q9ULB5 Hs.657522 1707386;1797380;2144325;5022578 CDH7_2588;D1S1423;RH17611;SHGC-84477 CDH7L1 OTTHUMP00000163685;cadherin-7 APPROVED protein-coding ENSG00000081138 HGNC:1766 12049 605806 REVIEWED 735375 CDH8 cadherin 8, type 2 This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 46191618 46573463 - 61681169 62070939 - 61647265 62037035 - 1580863;6480464;8554872 10861224;12209956;12477932;14702039;15489334;20379614;2059658;20972252;21389276;21602797;22359512;23144319;7806582;7982033;9219219;9521872;9615235 1006 J3KRI5;J3KT81;J3KTG8;J3QKW5;J3QLE6;P55286;X6R3Y6 AB035305;AB074170;ABBA01025353;ABBA01025354;ABBA01025355;AC012174;AC040161;AC092124;AC092125;AC092129;AK124734;AMYH02032166;AMYH02032167;AMYH02032168;AMYH02032169;BC113416;CH471092;L34060;NM_001796;R34732;R49605;XM_005255759;XM_005255760 AAA35628;AAI13417;ADR83258;BAA87419;BAE45735;BAG54083;EAW82994;EAW82995;NP_001787;P55286;XP_005255816;XP_005255817 Hs.368322 1664075;1708174;1714675;1719277;1731839;1732141;1738763;1738847;1769013;1775060;1849148;1856637;2217142 AFM212XE11;CDH8_1919;D16S2849;D16S2896;D16S2997;D16S3337;D16S389;D16S533;RH120002;RH123361;SHGC-32357;SHGC-60754;SHGC-79337 Nbla04261 OTTHUMP00000174769;cadherin 8;cadherin-8;putative protein product of Nbla04261 APPROVED protein-coding ENSG00000150394 HGNC:1767 04306 603008 VALIDATED 1354185 CDH9 cadherin 9, type 2 (T1-cadherin) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008] 5 5 5 p14 26765945 26923932 - 26880709 27038689 - 26880600 27038582 - 1580863;6480464;8554872 10835267;10861224;12477932;15489334;16344560;17668045;19322201;19404256;2059658;21079607;22589738;22846907;22872573;23279374;23870195;24722188;7806582;9219219 1007 D6RBT9;E7EPN0;Q9ULB4 AB035302;ABBA01066658;ABBA01066659;ABBA01066660;ABBA01066661;ABBA01066662;ABBA01066663;AC010470;AC022450;AK294183;AK307779;AK308697;AMYH02011067;AMYH02011068;BC107594;BC109384;BC113745;CH471118;DA165253;KF510902;KF510919;NM_016279 AAI07595;AAI09385;AAI13746;BAA87416;BAG57501;EAX10746;EAX10747;EAX10748;NP_057363;Q9ULB4 Hs.272212 1724087;1795548;2151842 CDH9_3;RH118785;WI-14975 MGC125386 OTTHUMP00000115836;T1-cadherin;cadherin-9 APPROVED protein-coding ENSG00000113100 HGNC:1768 13021 609974 REVIEWED 1606556 CDHR2 cadherin-related family member 2 This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010] 5 5 5 q35.2 172478089 172531637 - 175969512 176022769 + 176542511 176595768 + 6480464;8554872 11082270;12117771;12477932;14702039;15342556;15534908;19056867;19383367;22118674;22628312;24725409;8125298;8889549 54825 D6REJ3;Q9BYE9 AA130780;AB047004;ABBA01033489;ABBA01033490;ABBA01033491;ABBA01033492;AC091934;AK000131;AK000390;AK225217;AK315055;AMYH02012815;AMYH02012816;BC130282;BP271197;BX478954;CH471195;KF458067;NM_001171976;NM_017675;XM_006714887 AAI30283;BAA90962;BAB40777;BAG37531;EAW85066;EAW85067;EAW85068;EAW85069;NP_001165447;NP_060145;Q9BYE9;XP_006714950 Hs.4205 1674444;1776086;2168097;2171209;2185877;5014055 D1S3697;RH35970;RH48053;RH77998;SGC33786;SHGC-76867 FLJ20124;FLJ20383;MGC163154;PC-LKC;PCDH24;PCLKC OTTHUMP00000223383;OTTHUMP00000223384;OTTHUMP00000223385;protocadherin 24;protocadherin-24 APPROVED protein-coding ENSG00000074276 HGNC:18231 15103 REVIEWED 1605792 CDHR4 cadherin-related family member 4 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN homophilic cell adhesion via plasma membrane adhesion molecules (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH chloroprene (ortholog); maneb (ortholog); paraquat (ortholog) 3 3 3 p21.31 49793740 49802731 - 49828165 49837254 - 49790732 49799821 - 6480464;8554872 12477932;12975309;15489334;20307617 389118 A6H8M9;E9PFE8;H7C4N6;H7C5B2 ABBA01024574;AC139451;AMYH02006759;AY358221;BC132756;BC146674;NM_001007540 A6H8M9;AAI32757;AAI46675;AAQ88588;NP_001007541 Hs.363312 5037552 D8S2279 CDH29;MGC164982;PRO34300 Cadherin-like protein UNQ9392/PRO34300;OTTHUMP00000212679;VLLR9392;cadherin-like 29;cadherin-like protein 29 APPROVED protein-coding ENSG00000187492 HGNC:34527 17378 PROVISIONAL 1603532 CDHR3 cadherin-related family member 3 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN homophilic cell adhesion via plasma membrane adhesion molecules (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog) 7 7 7 q22.3 100409194 100482416 + 105517251 105676877 + 105876807 106036431 + 6480464;8554872 12477932;12690205;14702039;18029348;20833655;23251661;24241537;9847074 222256 E7EQG5;E9PEI5;F8WF00;H7C548;H7C555;Q6ZTQ4 ABBA01057932;AC004836;AC004964;AC005099;AK074414;AK125261;AK126338;AK131293;AK304118;AK304352;AMYH02016491;AMYH02016492;BC111696;BC111738;CH236947;CH471070;DC416640;NM_001301161;NM_152750;XM_005250223;XM_005250224;XM_005250225;XM_005250226;XM_006715905;XM_006715906;XR_242227 AAI11697;AAI11739;BAB85073;BAC86529;BAG54762;BAH14108;BAH14166;EAL24403;EAW83375;EAW83376;EAW83377;EAW83378;NP_001288090;NP_689963;Q6ZTQ4;XP_005250280;XP_005250281;XP_005250282;XP_005250283;XP_006715968;XP_006715969 Hs.150120 1336364;1776875;2115808;2137791;2139414;2170194;2181377;5014029;5015861;5020946;5037552;5125670;7185938;7186747 D10S16;D13S1639;D7S2305;D7S2390;D7S2453;D7S2840;D8S2279;GDB:6028542;L17971;RH16394;SHGC-30998;SHGC-35222 CDH28;FLJ23834;FLJ43271;MGC133292;MGC133293 OTTHUMP00000212237;OTTHUMP00000212239;cadherin-like protein 28 APPROVED protein-coding ENSG00000128536 HGNC:26308 08042 615610 VALIDATED 731820 CDH2 cadherin 2, type 1, N-cadherin (neuronal) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. The protein functions during gastrulation and is required for establishment of left-right asymmetry. At certain central nervous system synapses, presynaptic to postsynaptic adhesion is mediated at least in part by this gene product. [provided by RefSeq, Jul 2008] 18 18 18 q11.2 22342317 22568868 - 25530930 25757445 - 27950966 28177481 - 734737;1580863;1582675;6480464;6484113;6907045;8554872 16515795;7502046 10662782;10818391;10862698;11058098;11106648;11136230;11329013;11729199;11790800;11821434;11835406;11996105;12057916;12077367;12095980;12151522;12377785;12398894;12438242;12477932;12503652;12531901;12545205;12604612;12615965;12634428;12639940;13678586;14515347;14559901;14625392;14675278;1500442;15146197;15153430;15192701;15217949;15252840;15263022;15331629;15355896;15527101;15541732;15648948;15701645;15713751;15731052;15774907;15855653;15923648;15987741;16007225;16091424;16149052;16173043;16212419;16258702;16344550;16344560;16371504;1639850;16596172;16675571;16707106;16819153;16969099;17008425;17031402;17057644;17060906;17171299;17178870;17229887;17255093;17348027;17389597;17512904;17646933;17668445;17868645;17944884;18269586;18362184;18414176;18495274;18622386;18801083;18978678;18979298;19033391;19043453;19070520;19101069;19124205;19167335;19190132;19222093;19324354;19339270;19448425;19501458;19530221;19580633;19584275;19898423;19919954;20082286;20116358;20117462;20137108;20139113;20204300;20233707;20308060;20371349;20379614;20388391;20451421;20605145;20630685;20634891;20664068;20735983;20738806;20811707;21042713;21057494;21070371;21080917;21084302;21122409;21123580;21139048;21156175;21176502;21177868;21315068;21315259;21423153;21596022;21777276;21785870;21810271;21828122;21845495;21852538;21855541;21858092;21875946;21890473;21988832;21990317;22040951;22072429;22166980;2216790;22275437;22344255;22360503;22365631;22385354;22405962;22421353;22490800;22490896;22576709;22615994;22632162;22637581;22767590;22810307;22846995;22888908;22912891;22939629;22976797;23000965;23086683;23240619;23251661;23276695;23290789;23314748;23314859;23321619;23398382;23420609;23438504;23520479;23626784;23626818;23733927;2384753;23899519;23900215;23991044;24023788;24046456;24051540;24148886;24165969;24227724;24294380;24345743;24347629;24378362;24418088;24435707;24816145;7650039;7731968;7806582;7959764;7995652;8074697;9168198;9199196;9219219;9508779;9542583;9615235;9971746 1000 C9J126;C9J8J8;C9JMH2;P19022 AA661623;ABBA01022551;ABBA01022552;AC006249;AC015933;AC110015;AI675151;AI752179;AI752180;AK302831;AMYH02034472;AMYH02034473;AW016710;BC021695;BC036470;BG197310;BX648579;CH471088;CN263272;DA225616;EF444966;JA438438;JA611023;M34064;NG_011959;NM_001792;S42303;X54315;X57548;XM_005258181;XM_005258182;Z27420 AAA03236;AAB22854;AAH36470;ACA05964;ACE86888;ACE87575;BAH13814;CAA38213;CAA40773;CAA81799;CCD32808;CCE25962;EAX01239;EAX01240;EAX01241;NP_001783;P19022;XP_005258238;XP_005258239 Hs.464829;Hs.606106 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16118;REN16119;REN16120;REN16121;REN16122;REN16123;REN16124;REN16125;REN16126;REN16127;REN16128;REN16129;REN16130;REN16131;REN16132;REN16133;REN16134;REN16135;REN16136;REN16137;REN16138;REN16139;REN16140;REN16141;REN16142;REN16143;REN16144;REN16145;REN16146;REN16147;REN16148;REN16149;REN16150;REN16151;REN16152;REN16153;REN16154;REN16155;REN16156;REN16157;REN16158;REN16159;REN16160;REN16161;RH120696;RH121160;RH121194;RH121795;RH123058;RH123269;RH16571;RH27115;SHGC-33512;SHGC-79153;stSG624241;stSG624242;stSG624243;stSG624244;stSG624245;stSG624246;stSG624247;stSG624248;stSG624249;stSG624250;stSG624251;stSG624252;stSG624253;stSG624254;stSG624255;stSG624256;stSG624259;stSG624260;stSG624261;stSG624264;stSG624265;stSG624266;stSG624267;stSG624268;stSG624269;stSG624270;stSG624272;stSG624273;stSG624275;stSG624276;stSG624277;stSG624278;stSG624279;stSG624280;stSG624281;stSG624283;stSG624284;stSG624285;stSG624288;stSG624289;stSG624290;stSG624291;stSG624292;stSG624293;stSG624294;stSG624295;stSG624296;stSG624297;stSG624298;stSG624299;stSG624300;stSG624301;stSG624302;stSG624303;stSG624304;stSG624305;stSG624306;stSG624307;stSG624308;stSG624309;stSG624310;stSG624312;stSG624313;stSG624315;stSG624316;stSG624317;stSG624318;stSG624320;stSG624321;stSG624322;stSG624324;stSG624325;stSG624326;stSG624327;stSG624328;stSG624329;stSG624330;stSG624331;stSG624332;stSG624333;stSG624335;stSG624336;stSG624337;stSG624338;stSG624339;stSG624340;stSG624341;stSG624342;stSG624343;stSG624344;stSG624345;stSG624346;stSG624347;stSG624348;stSG624349;stSG624351;stSG624352;stSG624354;stSG624355;stSG624357;stSG624358;stSG624359;stSG624360;stSG624361;stSG624362;stSG624363;stSG624365;stSG624366;stSG624368;stSG624369;stSG624370;stSG624371;stSG624372;stSG624373;stSG624374;stSG624375;stSG624376;stSG624377;stSG624378;stSG624379;stSG624380;stSG624381;stSG624382;stSG624383;stSG624384;stSG624385;stSG624386;stSG624387;stSG624388;stSG624389;stSG624390;stSG624391;stSG624392;stSG624394;stSG624395;stSG624396;stSG624397;stSG624398;stSG624399;stSG624400;stSG624401;stSG624402;stSG624403;stSG624404;stSG624405;stSG624406;stSG624408;stSG624409;stSG624410;stSG624411;stSG624412;stSG624413;stSG624414;stSG624415;stSG624416;stSG624417;stSG624419;stSG624420;stSG624421;stSG624422;stSG624424 CD325;CDHN;CDw325;NCAD N-cadherin 1;OTTHUMP00000066304;OTTHUMP00000067378;cadherin 2;cadherin 2, N-cadherin (neuronal);cadherin-2;calcium-dependent adhesion protein, neuronal;neural cadherin;neural-cadherin APPROVED protein-coding ENSG00000170558 HGNC:1759 00226 114020 REVIEWED 1605676 CDHR5 cadherin-related family member 5 This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010] 11 11 11 p15.5 681712 690214 - 616565 625067 - 616565 625067 - 6480464 10801787;10817752;11031102;12167596;12477932;12589428;12975309;14702039;16335952;16344560;19056867;19913121;20628086;21315419;21839066;22202456;24725409 53841 B4DV98;E9PKR2;E9PLX6;E9PMY2;E9PPW2;Q58EZ6;Q9HBB8 AA975851;ABBA01015197;AC138374;AF258674;AF258675;AF258676;AF258677;AF258678;AF258679;AF276242;AF301909;AI640262;AK000226;AK000384;AK025012;AK300991;AK308040;AK309157;AMYH02024146;AP006284;AW137262;AY358368;BC038405;BC107063;CH471158;DA373160;NM_001171968;NM_021924;NM_031264;XM_005252987;XM_005252988;XM_005252989;XM_005252990;XM_006718253 AAG16730;AAG16731;AAG16732;AAG16733;AAG30821;AAG33495;AAH38405;AAQ88734;BAA91021;BAA91130;BAB15052;BAG62610;EAX02361;EAX02362;EAX02363;EAX02364;EAX02365;EAX02366;EAX02367;NP_001165439;NP_068743;NP_112554;Q9HBB8;XP_005253044;XP_005253045;XP_005253046;XP_005253047;XP_006718316 Hs.165619 1683759 RH99331 FLJ20219;MU-PCDH;MUCDHL;MUPCDH OTTHUMP00000162884;OTTHUMP00000162885;mu-protocadherin;mucin and cadherin-like protein APPROVED protein-coding ENSG00000099834 HGNC:7521 06021 606839 REVIEWED 736670 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 16 16 16 p11.2 72921652 72926552 + 29869678 29874801 - 29858356 29863288 - 6480464;6907045 12477932;14702039;15489334;16312203;19913121;19946888;20426864;20628086;21139048;21565611;21832049;21890473;21900206;21903422;21906983;22678362;23000965;23125841;23246001;23438482;23455922;23464991;8110188;8125298;9370331;9407135 10423 A8K3L7;B3KY94;H3BTJ7;H3BUR9;O14735 ABBA01013116;AC120114;AC244166;AF014807;AI696848;AK094468;AK097691;AK131227;AK131349;AK222676;AK290632;AK300805;AK310988;AK314544;AL050383;BC001444;BI490060;BT007301;BX333193;CH471238;CR542016;NM_001286585;NM_001286586;NM_006319;XM_005255038 AAB94860;AAH01444;AAP35965;BAD18505;BAD96396;BAF83321;BAG52872;BAG53514;BAG54756;BAG62462;CAG46813;EAW79976;EAW79977;EAW79978;NP_001273514;NP_001273515;NP_006310;O14735;XP_005255095 Hs.121549 1666136;1678811;1686444 D16S3310;RH64982;RH98729 MGC1328;PIS;PIS1 OTTHUMP00000162985;PI synthase;PtdIns synthase;phosphatidylinositol synthase APPROVED protein-coding ENSG00000103502 HGNC:1769 12063 605893 REVIEWED 1321732 CDIP1 cell death-inducing p53 target 1 INVOLVED IN apoptotic process; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; tumor necrosis factor-mediated signaling pathway; FOUND IN nucleus; INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene 16 16 16 p13.3 4769569 4797708 - 4560676 4588816 - 4510675 4538815 - 6480464 10570909;11230166;12477932;15489334;16344560;16751776;17599062;20379614;21139048;21890473;21963094;22549949;23000965;23275563 29965 H3BRY7;H3BTN7;H3BTX4;K7EK15;K7ELR4;K7EM67;K7ENR4;K7ESA8;Q9H305 ABBA01026777;AC007606;AC023830;AF131218;AF195661;AK292036;AK294257;AK302297;AK307067;AK308532;AK311295;AL136698;AL833853;AMYH02031325;BC002882;BC007604;CH471112;CR533446;DA055704;DQ167023;NM_001199054;NM_001199055;NM_001199056;NM_013399 AAF26619;AAG35583;AAH02882;AAH07604;AAZ94626;ADZ15492;BAF84725;BAG57552;BAG63637;CAB66633;CAD38712;CAG38477;EAW85291;EAW85292;EAW85293;EAW85294;EAW85295;EAW85296;EAW85297;EAW85298;NP_001185983;NP_001185984;NP_001185985;NP_037531;Q9H305 Hs.654653 1647708;1666612;1671637;1731385;1737547;2156994;2167465 D16S2655;D16S2980;D16S453;SHGC-60696;SHGC-60771;SHGC-60849;SHGC-61112 C16orf5;CDIP;I1 LITAF-like protein;LITAFL;cell death inducing protein;cell death involved p53-target;cell death-inducing p53-target protein 1;cell death-inducing protein;lipopolysaccharide-induced tumor necrosis factor-alpha-like protein;transmembrane protein I1 APPROVED protein-coding ENSG00000089486 HGNC:13234 12676 610503 VALIDATED 731889 CDK1 cyclin-dependent kinase 1 The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 10 10 10 q21.1 55803740 55820255 + 62538089 62554610 + 60772976 60794852 + 1358139;2316488;2314685;2316317;2701900;2715645;2683526;2776427;2708463;2711357;2296067;2756028;2722465;6480464;6907045 15017593;16000564;17145867;17460776;17575168;17956886;18245534;18299147;19136513;19298605;19377877;19672039 10077596;10339564;10359664;10362260;10373560;10383391;10395539;10403367;10497277;10502411;10504341;10524633;10564259;10602502;10636877;10656688;10712923;10716937;10747892;10764745;10766737;10767298;10769027;10793135;10825186;10864927;10884347;10924145;10938080;10958988;10973963;11034995;11069302;11076863;11076968;11113134;11113184;11135364;11136719;11259605;11278541;11278991;11285280;11298763;11310559;11326318;11327730;11331587;11395479;11444800;11470801;11504921;11516829;11520933;11531413;11549262;11559705;11574543;11584018;11598127;11683421;11687586;11774038;11779217;11782384;11836499;11861764;11878934;11895447;11901153;11953320;11980914;11986303;12058066;12077309;12107172;12124778;12145207;12151413;12177195;12186947;12190313;12200623;12221128;12361598;12372621;12397081;12407107;12411508;12450396;12468530;12477932;12525641;12551973;12556484;12569090;12569365;12586835;12604359;12612056;12612082;12613668;12648761;12676926;12721286;12742823;12771130;12775724;12791267;12810701;12832492;12839990;12852856;12853968;12881709;12884029;12912980;1310466;1318195;1384126;1388288;1400350;1406653;1425574;14499622;14551205;14635192;14645578;14654553;14697231;14993212;15014043;15016823;15024056;15030318;15050687;15070733;15073847;15082718;15125835;15142377;15145941;15147269;15175024;15181148;15215233;15265780;15276183;15311285;15317660;15345747;15367677;15368451;15474478;15489334;15489336;15525513;15525677;15531913;15541388;15578977;15582998;15591787;15592455;15604258;15635413;15662526;15674323;15678101;15725353;15735702;15735705;15767402;15780175;15782160;15790566;15800651;15817944;15888452;15951569;15989971;16009130;16036217;16109376;16118207;16142332;16159883;16192727;16196087;16198290;16205633;16226712;16237118;16247472;16258277;1628647;16344560;16354571;16371510;16377132;16381901;16385451;16407259;16427064;16458891;16462731;16465393;16474839;16478538;16519687;16533053;16565220;16629900;16682949;16760428;16784539;16807237;16880735;16880739;16888198;16998479;17011204;17012222;17013563;17043241;17098733;17159347;17171635;17172867;1717476;17192257;17200138;17242184;17274640;17327911;17349584;17351640;17359356;17373700;17386261;17419986;17431037;17433108;17466630;17472438;17474786;1748630;17488622;17488717;17498878;17525531;17540176;1756735;17586317;17636382;17679094;17681274;17725712;17906618;17960875;18003885;18025303;18029348;18056802;18069625;18195732;18201571;18230152;18245089;18247328;18271526;18272572;18272575;1828290;18329369;18337751;18347064;18356527;18372919;18408765;18434602;18445273;18450493;18457437;18471975;18477460;18480403;18490441;18514189;18550795;18560763;18568422;18593881;18615582;18635963;18655026;18781797;18799590;18950845;19048596;19056867;19061641;19066288;19134343;19158392;19162005;1916766;19223178;19275580;19275583;19275586;19275588;19303298;19344781;19364923;19369249;19375851;1939057;19454010;19458171;19471022;19473963;19483727;19509060;19615732;19664338;19683496;19687009;19723060;19725879;19737929;19738201;19786724;19789190;19815027;19837665;19879842;19884882;19917720;19946888;20062077;20068230;20068231;20126263;2013279;20169205;20171170;20181698;20228808;20360007;20360068;20367638;20368335;20368358;20379221;20395957;20404109;20412769;20439461;20444701;20508983;20526282;20581839;20711190;20733055;20739936;20808790;20810654;20890132;20935635;20937773;20956543;20974803;20974812;21041660;21059642;21081492;21081666;21120602;21123648;21131960;21135039;21139048;21148318;21262764;21308745;21319273;21325631;21379580;21406398;21454540;21488187;21489275;21498573;21504622;21522128;21525341;21569376;21659531;21693764;21712819;21743465;21767532;21813648;2183353;21840486;21871177;21871181;21875946;21878504;21878640;21887332;21890473;21900237;21900495;21906983;21907836;21918813;21924351;21925791;21951856;21952639;21963094;21987572;21987589;21988832;21998300;22024133;22053931;22071694;22101338;22137483;22158041;22163316;22266860;22268729;2227411;22407595;22482362;22496227;22505724;22552942;22580043;22623428;22689984;22718829;22726437;22768111;22784093;22814604;22848730;22863883;22871736;22907750;22939629;22949227;22962268;22965228;23000965;23045552;23125841;23202514;23264621;23330000;23355470;23383273;23430691;2344612;23455152;23471882;23518499;23525902;23532886;23543736;23602568;23619525;23667531;23720738;23729730;23738518;23775624;23776131;23814058;23824909;23901111;23908594;23921553;23933584;23956138;23958962;23966160;23990466;24013421;24101154;24137814;24158819;24189531;24248602;24250222;24302728;24327015;24378347;24444383;24447338;24457600;24583019;24623419;2473839;24746669;24816145;25027693;25036637;2538242;2541912;2570636;2686978;3289755;3553962;7474080;7474100;7494303;7499230;7578274;7590285;7592773;7635160;7666531;7673335;7716549;7724583;7737117;7769006;7790358;7799941;7822264;7876309;7902715;7903056;7925482;7944411;7949095;7969176;7983050;8034666;8051108;8051175;8070405;8084605;8087847;8119945;8125092;8127873;8242750;8325880;8376365;8397206;8397207;8404858;8423786;8428596;8440392;8463339;8475101;8491187;8524869;8548803;8565853;8626512;8626527;8631817;8652557;8662825;8663071;8672508;8806671;8910336;9001210;9053846;9069267;9094673;9109675;9126608;9130708;914146;9141461;9188632;9199321;9235942;9242535;9244350;9247342;9258347;9268380;9271440;9295339;9315091;9315635;9398320;9467962;9515786;9520381;9524113;9525956;9560267;9575153;9585407;9600099;9614189;9668078;9725910;9733650;9753325;9774639;9885575;9891079;9926943;9988268;9990288 983 B7Z3D6;E5RIU6;I6L9I5;P06493 AA459484;ABBA01019464;ABBA01019465;ABBA01019466;AC022390;AF512554;AK291939;AK295741;AMYH02023176;AW976143;BC014563;BC107750;BF685285;BG723076;BT007004;BU633268;CH471083;CR933728;D88357;DA823877;NG_029877;NM_001170406;NM_001170407;NM_001786;NM_033379;X05360;XM_005270303;XM_006718082;XM_006718083;Y00272 AAH14563;AAI07751;AAM34793;AAP35650;BAA26001;BAF84628;BAH12172;CAA28963;CAA68376;CAI46271;CAL37461;CAL37925;CAL38165;CAL38602;EAW54204;EAW54205;EAW54206;EAW54207;EAW54208;EAW54209;EAW54210;NP_001163877;NP_001163878;NP_001777;NP_203698;P06493;XP_005270360;XP_006718145;XP_006718146 Hs.732435 1658098;1674353;2181486;2183072;5021716 RH68267;RH71273;SHGC-57924;SHGC-64950;ksks369 CDC2;CDC28A;DKFZp686L20222;MGC111195;P34CDC2 OTTHUMP00000019659;OTTHUMP00000019660;OTTHUMP00000223862;cell cycle controller CDC2;cell division control protein 2 homolog;cell division cycle 2 homolog a (s. pombe);cell division cycle 2, G1 to S and G2 to M;cell division protein kinase 1;p34 protein kinase APPROVED protein-coding ENSG00000170312 HGNC:1722 00302 116940 REVIEWED 7244483 CDIPT-AS1 CDIPT antisense RNA 1 (head to head) 16 16 16 p11.2 72916855 72921226 - 29875004 29879374 + 29863683 29868053 + 12477932;15489334;15616553 440356 ABBA01013116;AC120114;AC244166;AI269516;AK131031;BC070380;BC119017;BC119809;BM006535;HG507917;HG507918;NR_015396;NR_024370 Hs.448823 ncrna ENSG00000214725 HGNC:48609 VALIDATED 1604655 CDK11A cyclin-dependent kinase 11A This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L1, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L1, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions, which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L1 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Many transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of only two have been determined so far. [provided by RefSeq, Jul 2008] 1 1 p36.33 1633822 1655999 - 1702730 1724352 - 6480464;8554872 10882096;11181995;11506180;11683997;11980906;12446680;12477932;12501247;12624090;14511641;14623875;15231747;15302935;15330758;15883043;15963510;16004605;16039607;16055720;1639388;16462731;16710414;17081983;17177267;17606997;1774066;18029348;18729074;19122208;19245811;19520772;19875381;19884882;20467438;20508983;21693764;21906983;21963094;21987572;21988832;22113938;2217177;22505724;23455922;23602568;23667531;24816145;25036637;7777541;7920654;8195233;9115219;9580558;9632733;9740677;9750192 728642 E7ESP2;E9PFJ2;J3KS35;Q4VBY6;Q5QPQ9;Q5QPR3;Q5QPR4;Q9UQ88 ABBA01016066;AF067518;AF067519;AF067520;AF067521;AF067522;AF067523;AF067524;AF067526;AF067527;AF067528;AF067529;AF080694;AF080695;AF080697;AF092426;AK301495;AK303446;AK303451;AL031282;AL043340;AL691432;AMYH02000108;BC014464;BC028187;BC073855;BC094827;BC110905;CH471183;DC388505;NG_029414;NM_024011;NM_033529;U04819;U07704;U07705 AAA19585;AAA19594;AAA19595;AAC72083;AAC72084;AAC72085;AAC72086;AAC72087;AAC72088;AAC72089;AAC72091;AAC72092;AAC72093;AAC72094;AAC95297;AAC95298;AAC95299;AAC95300;AAC95301;AAC95302;AAC95303;AAC95304;AAH14464;AAH28187;AAH94827;AAI10906;BAG63006;BAG64491;BAG64496;EAW56161;EAW56162;EAW56163;EAW56164;EAW56165;EAW56166;EAW56167;EAW56168;NP_076916;NP_277071;Q9UQ88 Hs.651228;Hs.709182 1658802;1662115;1668766;2164690;5109281 A002R14;AFMB067YH1;D1S1425;SHGC-34744;SHGC-74110 CDC2L2;CDC2L3;CDK11-p110;CDK11-p46;CDK11-p58;MGC131975;p58GTA OTTHUMP00000000760;OTTHUMP00000000762;OTTHUMP00000000763;OTTHUMP00000000764;OTTHUMP00000000767;OTTHUMP00000000768;PITSLRE;PITSLRE B;PITSLRE protein kinase beta;PITSLRE serine/threonine-protein kinase CDC2L2;cell division cycle 2-like 2 (PITSLRE proteins);cell division cycle 2-like protein kinase 2;cell division protein kinase 11A;galactosyltransferase-associated protein kinase p58/GTA APPROVED protein-coding ENSG00000008128 HGNC:1730 116951 REVIEWED 737398 CDHR1 cadherin-related family member 1 This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013] 10 10 10 q23.1 79949917 79974886 + 85954391 85979377 + 84194635 84219621 + 633048;1580863;6480464;7240710;8699517;8554872 11597768 12477932;16288196;16344560;16385451;18654668;20087419;20498078;20805371;21697133;21875946;23044944;23233793;24265541;8889548 92211 B3KWC7;F1T0L2;Q96JP9 AA576346;AB053448;AB593154;AB593155;ABBA01003757;ABBA01003758;AC022389;AK124752;AL080188;AMYH02023450;AW129079;BC038799;BM674749;CH471142;DA373888;DA957169;NG_028034;NM_001171971;NM_033100 AAH38799;BAB61905;BAG54089;BAJ84086;BAJ84087;CAH10732;EAW80361;EAW80362;EAW80363;EAW80364;NP_001165442;NP_149091;Q96JP9 Hs.137556;Hs.660813 1711400;2173622 G42184;RH15739 CORD15;DKFZp434A132;KIAA1775;PCDH21;PRCAD;RP65 MT-protocadherin;OTTHUMP00000019993;OTTHUMP00000019994;photoreceptor cadherin;protocadherin-21 APPROVED protein-coding ENSG00000148600 HGNC:14550 15106 609502;613660 REVIEWED 733880 CDK12 cyclin-dependent kinase 12 ENCODES a protein that exhibits cyclin binding; protein kinase activity; RNA polymerase II carboxy-terminal domain kinase activity; INVOLVED IN phosphorylation of RNA polymerase II C-terminal domain; protein autophosphorylation; regulation of MAP kinase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cyclin K-CDK12 complex; nuclear speck; nucleolus; INTERACTS WITH benzo[a]pyrene diol epoxide I; fulvestrant; hydralazine 17 17 17 q12 34278706 34351410 + 37617739 37721398 + 39461486 39567559 + 6480464;8554872 10048485;10737800;11683387;12168954;12477932;12841360;15231748;15302935;16051665;16055720;16159877;16226712;16344560;16964243;17081983;17192257;18029348;19124506;19322201;19596686;19651820;19884882;20734064;20952539;21139048;21693764;21963094;21988832;22012619;22547058;22623531;22939629;22988298;22990118;23455922;23602568;24240700;24554720;24816145 51755 H0YLT2;J3QSD7;Q9NYV4 AB020711;ABBA01031862;ABBA01031863;ABBA01031864;ABBA01031865;ABBA01031866;AC009283;AF227198;AK302645;AMYH02033379;AMYH02033380;AMYH02033381;AMYH02033382;AMYH02033383;BC140854;BC150265;BE003756;BM557102;CB049262;CH471152;DA026139;LK938129;NM_015083;NM_016507;XM_005257456;XM_005257458;XR_429896;XR_429897;XR_429898;XR_429899;XR_429900;XR_429901;XR_429902;XR_429903;XR_429904 AAF36401;AAI40855;AAI50266;BAA74927;BAG63886;EAW60576;EAW60577;NP_055898;NP_057591;Q9NYV4;XP_005257513;XP_005257515 Hs.416108 1688068;1693760;1698752;2109193;2162523;2184160;5096057 CRK7_9758;L18221;RH102939;RH45437;RH70045;RH92543;SHGC-58832 CRK7;CRKR;CRKRS;KIAA0904;hCDK12 CDC2-related protein kinase 7;Cdc2-related kinase, arginine/serine-rich;OTTHUMP00000164282;cell division cycle 2-related protein kinase 7;cell division protein kinase 12;protein kinase for splicing component APPROVED protein-coding ENSG00000167258 HGNC:24224 10849 615514 VALIDATED 1312526 CDK10 cyclin-dependent kinase 10 The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 16 16 16 q24 74817511 74827207 + 89753076 89762772 + 89680737 89696364 + 1580863;6480464;8554872 10036189;11006117;11076863;11313931;12477932;15489334;15489336;16226712;16344560;16381901;17192257;18242510;18483556;19578364;19846932;21890473;21906983;21983787;22158035;22209942;22315970;22326270;22632162;23602568;23740091;24218572;24250222;7664269;7882308;8084611;8208557;8889548 8558 B7Z537;D6RA59;D6REZ2;D6RHH3;F8W872;H3BSN8;H3BT74;Q15131;Q9UHL7 AB209829;ABBA01014136;AC010538;AF153430;AJ010341;AK075036;AK131531;AK290485;AK292351;AK295397;AK296631;AK298386;AK312016;AMYH02032680;BC017342;BC025301;BC032704;BC093028;BM677573;BM720563;BQ184950;CH471184;CX867290;DB118903;DC362478;L33264;NM_001098533;NM_001160367;NM_052987;NM_052988;NR_027702;NR_027703;X78342;XM_006721308;XM_006721309;XM_006721310;XM_006721311;XM_006721312;XM_006721313;XM_006721314;XM_006721315;XM_006721316;XM_006721317;XM_006721318 AAA60092;AAF18371;AAH17342;AAH25301;ACE86898;ACE87585;BAD93066;BAF83174;BAF85040;BAG34954;BAG52055;BAG54773;BAH12055;BAH12406;BAH12773;CAA55137;CAB37619;CAL37781;CAL38055;CAL38082;EAW66700;EAW66701;EAW66702;EAW66703;EAW66704;EAW66705;EAW66706;EAW66707;EAW66708;EAW66709;EAW66710;EAW66711;NP_001092003;NP_001153839;NP_443713;NP_443714;Q15131;XP_006721371;XP_006721372;XP_006721373;XP_006721374;XP_006721375;XP_006721376;XP_006721377;XP_006721378;XP_006721379;XP_006721380;XP_006721381 Hs.699177 1667703;1698938;1730165;2191641;5014051;5022200;5022578;5037552 D18S77E;D1S1423;D8S2278;D8S2279;L18426;MARC_3459-3460:996679104:1;RH103038;SHGC-61182 CDC2-related protein kinase;OTTHUMP00000175352;OTTHUMP00000217847;PISSLRE;cell division protein kinase 10;cyclin-dependent kinase (CDC2-like) 10;cyclin-dependent kinase related protein;serine/threonine protein kinase PISSLRE;serine/threonine-protein kinase PISSLRE APPROVED protein-coding ENSG00000185324 HGNC:1770 603464 REVIEWED 1604656 CDK11B cyclin-dependent kinase 11B This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] 1 1 1 p36.33 95 3483 - 1571100 1590473 - 1635226 1659839 - 6480464;8699517 10882096;11709559;12082095;12477932;12501247;12624090;14511641;14623875;14675149;14684736;15175163;15302935;15330758;15344906;15345747;15385968;15489334;15883043;15963510;16055720;16169070;1639388;16413544;16964243;17081983;17353931;17643375;17698582;1774066;18029348;18651850;18773076;19122208;19245811;19471022;19538938;19854136;19884882;20508983;21078675;21139048;21252943;21297952;21371428;21461981;21808150;21890473;21897860;21906983;21963094;21987572;21988832;2217177;22188294;22505724;22791884;22939624;22939629;23178491;23455922;24007862;24816145;7777541;7920654;8195233;9115219;9580558;9632733;9750192 984 B4DII1;B7ZVY7;J3KTL7;J3QKR5;J3QR29;J3QR44;P21127 AA778148;ABBA01016061;ABBA01016062;ABBA01016063;AF067512;AF067513;AF067514;AF067515;AF067516;AF067517;AF080683;AF174497;AK000081;AK295607;AK304679;AL691432;AMYH02000108;BC009375;BC054019;BC104661;BC139777;BC140714;BC171773;CH471183;DB516340;DC295949;DC362247;DC393302;FO704657;M88563;NM_001291345;NM_001787;NM_033486;NM_033487;NM_033488;NM_033489;NM_033490;NM_033492;NM_033493;U04816;U04817;U04818;U04824;XM_006711061;XM_006711062;XM_006711063;XM_006711064;XM_006711065;XM_006711066;XM_006711067;XM_006711068;XM_006711069;XM_006711070;XM_006711071 AAA19582;AAA19583;AAA19584;AAA19586;AAB59449;AAC72077;AAC72078;AAC72079;AAC72080;AAC72081;AAC72082;AAC83662;AAC83663;AAC83664;AAC83665;AAC83666;AAF36538;AAH09375;AAI04662;AAI39778;AAI40715;AAI71773;BAG58493;BAG65451;EAW56170;EAW56171;EAW56172;EAW56173;NP_001278274;NP_001778;NP_277021;NP_277022;NP_277023;NP_277024;NP_277025;NP_277027;NP_277028;P21127;XP_006711124;XP_006711125;XP_006711126;XP_006711127;XP_006711128;XP_006711129;XP_006711130;XP_006711131;XP_006711132;XP_006711133;XP_006711134 Hs.651228;Hs.709182 1658802;1662115;1668766;2164690 A002R14;AFMB067YH1;SHGC-34744;SHGC-74110 CDC2L1;CDC2L2;CDK11;CDK11-p110;CDK11-p46;CDK11-p58;CLK-1;FLJ59152;PK58;p58;p58CDC2L1;p58CLK-1 CDC-related protein kinase p58;PITSLRE serine/threonine-protein kinase CDC2L1;PITSLREA;cell division cycle 2-like 1 (PITSLRE proteins);cell division cycle 2-like 2 (PITSLRE proteins);cell division cycle 2-like protein kinase 1;cell division protein kinase 11B;cell division protein kinase 11B-like;galactosyltransferase-associated protein kinase p58/GTA;p58 CLK-1 APPROVED protein-coding ENSG00000248333 HGNC:1729 08909 176873 REVIEWED 1314644 CDK15 cyclin-dependent kinase 15 ENCODES a protein that exhibits ATP binding (inferred); cyclin-dependent protein serine/threonine kinase activity (inferred); metal ion binding (inferred); INVOLVED IN protein phosphorylation (inferred); regulation of cell cycle (inferred) 2 2 2 q33.2 196423311 196510043 + 202655177 202760273 + 201790454 201895550 + 1580863 11586298;12471243;12477932;14702039;15489334;15815621;16236519;16344560;17353931;19884882;20467438;22939624;23455922;23602568;24866247 65061 F8WDP7;Q96Q40 AB053308;ABBA01062546;ABBA01062547;ABBA01062548;ABBA01062549;ABBA01062550;AC007242;AC007358;AK091710;AK131512;AK292434;AK310050;AMYH02005550;AMYH02005551;AMYH02005552;AX772791;AX772799;BC038807;BX647394;CH471063;DA050598;NM_001261435;NM_001261436;NM_139158;XM_005246781;XM_005246782;XM_005246783;XM_006712696;XM_006712697 AAH38807;AAX88914;AAX93182;ACE86586;ACE86587;ACE87269;ACE87270;BAB69017;BAD18656;BAF85123;CAE06249;CAE06250;EAW70295;EAW70296;EAW70297;NP_001248364;NP_001248365;NP_631897;Q96Q40;XP_005246838;XP_005246839;XP_005246840;XP_006712759;XP_006712760 Hs.348711 1341409;1689472;1704526;1728791 D2S2214;G54445;RH99261;SHGC-83058 ALS2CR7;PFTAIRE2;PFTK2 OTTHUMP00000163739;OTTHUMP00000206116;OTTHUMP00000206118;OTTHUMP00000209438;PFTAIRE protein kinase 2;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 7 protein;cell division protein kinase 15;serine/threonine protein kinase;serine/threonine-protein kinase ALS2CR7;serine/threonine-protein kinase PFTAIRE-2 APPROVED protein-coding ENSG00000138395 HGNC:14434 12449 VALIDATED 1322573 CDK13 cyclin-dependent kinase 13 The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009] 7 7 7 p13 39978186 40124932 + 39989959 40136733 + 39950360 40097134 + 1580863;6480464;8554872 11162436;11347906;12477932;12853948;14702039;14968112;15144186;15231748;15302935;15635413;16721827;16730941;16964243;17081983;1731328;17620599;18480452;19596686;19884882;20811636;21139048;21963094;22547058;22912832;22939629;22990118;23602568;24457600;24816145;8125298;8889548;9847074 8621 Q14004;Q9BVE2 AB058694;ABBA01058149;ABBA01058150;ABBA01058151;ABBA01058152;ABBA01058153;AC006023;AC072061;AJ297709;AJ297710;AK025500;AK092534;AK130653;AK223053;AMYH02015569;AMYH02015570;AMYH02015571;AMYH02015572;AY679523;BC001274;BC080601;BF707421;BM699295;BM727913;BU686489;BX647326;CH236951;CH471073;CR748837;M80629;NM_003718;NM_031267 AAA58424;AAD54514;AAH01274;AAI68380;AAS07490;AAS07491;AAT74623;BAB47420;BAD96773;CAC10400;CAC10401;EAW94128;EAW94129;EAW94130;EAW94131;EAW94132;EAW94133;NP_003709;NP_112557;Q14004 Hs.233552 1665085;1677454;1678489;1714695;1715645;1788224;1788804;1790581;2125619;2134481;2140406;2156982;2159686;2169062;2217136;5094869 CDC2L5;CDC2L5_3913;D7S3089;G16022;GDB:1318476;GDB:1318631;HSC209_(7Gr397mb);RH119268;RH120012;RH139622;RH36512;RH45694;RH47846;RH66471;RH93376;RH93929 CDC2L;CDC2L5;CHED;FLJ35215;KIAA1791;hCDK13 CDC2-related protein kinase 5;OTTHUMP00000159007;OTTHUMP00000159008;cell division cycle 2-like protein kinase 5;cell division protein kinase 13;cholinesterase-related cell division controller APPROVED protein-coding ENSG00000065883 HGNC:1733 04496 603309 REVIEWED 1343326 CDK17 cyclin-dependent kinase 17 The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to a rat protein that is thought to play a role in terminally differentiated neurons. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jul 2010] 12 12 12 q23.1 96338255 96460459 - 96672039 96794366 - 96278261 96400588 - 1580863;6480464 10727952;11527406;12477932;14603251;15161933;15324660;15489334;15761153;16344560;1639063;17192257;19884882;20360068;20467438;21832049;21890473;21906983;21987572;21988832;22359512;22678362;23443559;23602568;23824909;24255178;9370357 5128 F5H6Z0;F8VQZ9;F8VUX2;F8VZY6;F8W1S5;Q00537 ABBA01053312;ABBA01053313;ABBA01053314;AC125612;AF086067;AK290011;AK294698;AK315214;AMYH02027000;AMYH02027001;AMYH02027002;AMYH02027003;AMYH02027004;AMYH02027005;BC033005;BF111798;CB990077;CH471054;DA530711;DA735430;DC307775;NM_001170464;NM_002595;X66360;XM_006719444 AAH33005;ABM81734;ABM84889;BAF82700;BAG37649;BAG57856;CAA47004;EAW97566;EAW97567;EAW97568;EAW97569;NP_001163935;NP_002586;Q00537;XP_006719507 Hs.506415 1659395;1709756;1794128;2163240 PMC310794P3;RH68952;SHGC-84689;STS-H95680 PCTAIRE2;PCTK2 OTTHUMP00000243608;OTTHUMP00000243609;OTTHUMP00000243610;PCTAIRE-motif protein kinase 2;cell division protein kinase 17;protein kinase cdc2-related PCTAIRE-2;serine/threonine-protein kinase PCTAIRE-2 APPROVED protein-coding ENSG00000059758 HGNC:8750 09141 603440 REVIEWED 1343762 CDK19 cyclin-dependent kinase 19 This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] 6 6 6 q21 111677771 111883024 - 110931181 111136590 - 110609978 110815885 - 737633;6480464;8554872 12477932 10470851;12168954;12501247;14574404;15175163;15489334;17353931;18029348;19884882;20133760;20379614;20408451;21729782;22668559;22939629;23563140;23602568;23749998;24250222 23097 B4DUB1;H0YDW9;Q5JQZ9;Q9BWU1 AB028951;ABBA01026107;ABBA01026108;ABBA01026109;ABBA01026110;ABBA01026111;ABBA01026112;ABBA01026113;AJ420571;AK292360;AK300567;AL122055;AL512430;AL603914;AMYH02014288;AMYH02014289;AMYH02014290;AMYH02014291;AY028424;BC024247;BC036637;BC037289;BC047513;BX647699;CH471051;DB030002;JX028238;NM_001300960;NM_001300963;NM_001300964;NM_015076;XM_005266870;XM_005266871;XM_005266872;XM_005266873;XM_006715402;Z84480 AAH24247;AAH37289;AAK27731;AFN21421;BAA82980;BAF85049;BAG62273;CAB59186;EAW48312;NP_001287889;NP_001287892;NP_001287893;NP_055891;Q9BWU1;XP_005266927;XP_005266928;XP_005266929;XP_005266930;XP_006715465 Hs.744895 1335021;1659374;1681028;1684626;1689201;1697130;1716455;1846891;1856484;1857312;2120905;2130956;2136263;2142420;2156070;5015861;5016478;5016596;5016781;5017227;5020414;5022578;5037552;5092830;5117897;7185938 A006H26;D10S16;D1S1423;D6S1647;D6S1933;D6S2200;D8S2279;G17046;G32356;G38154;GDB:434012;GDB:631802;GDB:631813;L17688;RH102050;RH121407;RH40971;RH44873;RH45675;RH46604;RH46687;RH80955;RH93857;SHGC-31366;SHGC-67307 CDC2L6;CDK11;KIAA1028;bA346C16.3 CDC2-related protein kinase 6;CDK8-like cyclin-dependent kinase;OTTHUMP00000017005;OTTHUMP00000017006;OTTHUMP00000017007;cell division cycle 2-like 6 (CDK8-like);cell division cycle 2-like protein kinase 6;cell division protein kinase 19;cyclin dependent kinase 19 variant 2;cyclin-dependent kinase (CDC2-like) 11;cyclin-dependent kinase 11;death-preventing kinase APPROVED protein-coding ENSG00000155111 HGNC:19338 07627 614720 REVIEWED 734014 CDK16 cyclin-dependent kinase 16 The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells; in exocytosis; and in transport of secretory cargo from the endoplasmic reticulum. This gene is thought to escape X inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2009] X X X p11 51272820 51284689 + 47077445 47089396 + 47218046 47229997 + 6480464 10099831;12084709;12154078;12477932;1437147;14530271;14702039;15489334;15772651;16091426;16169070;16344560;1639063;16461345;17081983;17192257;18029348;19460752;19531213;19884882;20360068;21139048;21335063;21832049;21890473;21906983;22184064;22412018;22798068;22990118;23602568;24250222;24255178;7656587;8088790;8852665;8889548;9197417;9244435;9738006;9799109 5127 B7Z8T0;E5RGN0;E5RGV7;E5RIU4;E5RIY8;E5RJM2;E5RJQ8;H0YAZ9;H0YBX5;H0YC36;H0YC60;Q00536;Q9BRL4 AB209465;ABBA01052315;ABBA01052316;ABBA01052317;ABBA01052318;AK096881;AK131486;AK290145;AK296880;AK301832;AK303849;AL096791;AL513366;AMYH02039273;AMYH02039274;BC001048;BC006190;BC009852;BC015607;BG029956;BQ187876;BT006827;CH471164;DA816614;DA900611;KF459105;NG_012517;NM_001170460;NM_006201;NM_033018;X66363;XM_005272614;XM_005272615;XM_006724534;XM_006724535 AAH01048;AAH06190;AAH09852;AAH15607;AAP35473;BAD18631;BAD92702;BAF82834;BAH12447;BAH13564;BAH14066;CAA47006;EAW59294;EAW59295;EAW59296;EAW59297;EAW59298;NP_001163931;NP_006192;NP_148978;Q00536;XP_005272671;XP_005272672;XP_006724597;XP_006724598 Hs.496068 2109635;2118663;2150997;5491252 DXS6977E;MARC_6347-6348:992007242:1;PCTK1_8525;RH71290 FLJ16665;PCTAIRE1;PCTK1 OTTHUMP00000023208;OTTHUMP00000023209;OTTHUMP00000226801;OTTHUMP00000226803;PCTAIRE;PCTAIRE-motif protein kinase 1;PCTGAIRE;cell division protein kinase 16;serine/threonine-protein kinase PCTAIRE-1 APPROVED protein-coding ENSG00000102225 HGNC:8749 02409 311550 REVIEWED 1318567 CDK2AP1 cyclin-dependent kinase 2 associated protein 1 The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] 12 12 12 q24.31 123337112 123348266 - 123745517 123756863 - 123260970 123272316 - 1580863;6480464 10877824;10938106;12477932;13679870;14744761;14985111;15342556;15489334;15840587;16159877;17217620;17353931;17689689;19279387;19322201;19513502;19585490;19679565;20523938;20541561;20555355;20727496;21187770;21258344;21328460;21740085;21865592;21988832;22242598;22379092;22427660;22791769;23383273;23404055;23752268;23974872;7566098;9331572;9506968 8099 F5GZF0;O14519 AA295789;AA477326;AB006077;ABBA01060429;ABBA01060430;AC068768;AF006484;AI139790;AMYH02027452;BC034717;BP290637;CB964037;CH471054;DR759851;N41298;NM_001270433;NM_001270434;NM_004642;NR_073007;NR_073008 AAC77831;AAH34717;ABM82207;ABM85394;BAA22937;EAW98398;EAW98399;EAW98400;NP_001257362;NP_001257363;NP_004633;O14519 Hs.433201 1725731;2111764;2143948;2169735 D11S4467;G62121;RH15673;SGC31687 DOC1;DORC1;ST19;doc-1;p12DOC-1 CDK2-associated protein 1;Deleted in oral cancer-1;OTTHUMP00000239636;OTTHUMP00000239637;OTTHUMP00000239638;OTTHUMP00000239639;OTTHUMP00000239640;cyclin-dependent kinase 2-associated protein 1;deleted in oral cancer 1;putative oral cancer suppressor APPROVED protein-coding ENSG00000111328 HGNC:14002 03726 602198 REVIEWED 1319906 CDK18 cyclin-dependent kinase 18 ENCODES a protein that exhibits ATP binding (inferred); cyclin-dependent protein serine/threonine kinase activity (inferred); protein kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); regulation of cell cycle (inferred); INTERACTS WITH benzo[a]pyrene; cyclosporin A; dioxygen 1 1 1 q31-q32 178608860 178637096 + 205473684 205501921 + 205504556 205532793 + 6480464 12477932;1437147;14702039;15019984;15161933;15489334;16091426;16189514;16341674;16344560;1639063;16710414;16766195;17192257;17979178;19460752;19884882;21139048;21832049;21890473;21906983;22939624;23382691;23444366;23455922;23602568;24255178;8088790;8889548 5129 D6R9B0;D6R9X1;D6RA44;D6RGH0;Q07002;Q59G02 AB209307;ABBA01027415;AK126879;AK293756;AK295272;AK295654;AK296320;AK308913;AL161977;AL357131;AMYH02002548;AU130437;AY353237;AY353238;AY353239;AY353240;BC000281;BC009223;BC011526;BC040529;BM695474;BM772779;BT007299;BU165355;CH471067;DC381358;KF455139;NM_002596;NM_212502;NM_212503;X66362;XM_006711365;XR_426779;XR_426780;XR_426781;XR_426782;XR_426783;XR_426784 AAH00281;AAH11526;AAH40529;AAP35963;AAR13065;AAR13066;ABM84466;ABM84675;BAD92544;BAG54388;BAG57176;BAG58258;BAG58521;BAG59015;CAA47005;EAW91559;EAW91560;EAW91561;EAW91562;NP_002587;NP_997667;NP_997668;Q07002;XP_006711428 Hs.445402 1682515;2108345 PCTK3_8526;RH80187 PCTAIRE3;PCTK3 OTTHUMP00000035326;OTTHUMP00000035327;OTTHUMP00000035328;PCTAIRE;PCTAIRE protein kinase 3;PCTAIRE-motif protein kinase 3;cell division protein kinase 18;serine/threonine-protein kinase PCTAIRE-3 APPROVED protein-coding ENSG00000117266 HGNC:8751 01354 169190 VALIDATED 1352010 CDK2 cyclin-dependent kinase 2 This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 12 12 12 q13 56013264 56019276 + 56360556 56366573 + 55966772 55972784 + 1580863;2298988;2296067;2293561;2298990;2293557;2289230;2293560;2293563;2298989;2293558;2289284;6480464;6484113;6907045;8694143;8694150 10919634;11585414;16236519;16534847;16648554;16740772;16924466;17483252;17893107;18236071;18299147;9426687;9673386 10022118;10082561;10095772;10198259;10202152;10207050;10323868;10330164;10339564;10348343;10359664;10373465;10373534;10386600;10393546;10432313;10447003;10454565;10486249;10499802;10548110;10559858;10559988;10574912;10585280;10593981;10602502;10639311;10652300;10747897;10748114;10748174;10767298;10827081;10846177;10874474;10877824;10878006;10884347;10908655;10918595;10924145;10930425;10934208;10938080;10938106;10995386;10995387;10995390;11042687;11063125;11069302;11076863;11102515;11113184;11132966;11175348;11231585;11238922;11259605;11264176;11278991;11302688;11310559;11340163;11377199;11395479;11463386;11477082;11532001;11598016;11684017;11698641;11781350;11781834;11850621;11884610;11907280;11931757;11940657;11953320;11980914;12036888;12044161;12049628;12064478;12081504;12096339;12114499;12140288;12149264;12185076;12190313;12191604;12239611;12244298;12361598;12383116;12388094;12417722;12477932;12529437;12531694;12560341;12676582;12676926;12684681;12729791;12732645;12745075;12757710;12800980;12801928;12810668;12839962;12839982;12853968;12857729;12912980;12915577;12923533;12941338;12947099;12949733;12954644;12963725;12970441;12972555;1312467;13678583;1388288;1396589;14506259;14530271;14536078;14550307;14551212;14562046;14597612;14612403;14612406;14645251;14646596;14656438;14681231;14694185;14701826;14985333;14993212;15003538;15004009;15004027;15024056;15024385;15030318;15050687;15063782;15144186;15147269;15159402;15169570;15173007;15178429;15189033;15199159;15226429;15232106;15241418;15282296;15302935;15309028;15355984;15355997;15455144;15456866;15469821;15489334;15489336;15514162;15530371;15557281;15572662;15583032;15601848;15607961;15611077;15611625;15619620;15632290;15635413;15647383;15649889;15652749;15660127;15665273;15670215;15671017;15695825;15707957;15753125;15772084;15800615;15800651;15811853;15828833;15855168;15890360;15922732;15944161;15964852;15980415;15998794;16009130;16027724;16036217;16082200;16082227;16085226;16150942;16159883;16174846;16191191;16205633;16223725;16226712;16258277;16262700;16289656;16290148;16326706;16327805;16343435;16376875;16381901;16407256;16446360;16458891;16479163;16504183;16517729;16519687;1653904;16540140;16575928;16582606;16707497;16762841;16765349;16777603;16782892;16822311;16824683;16826239;16912045;16912201;16951407;16962592;16979657;16985050;17001081;17013093;17038621;17053782;17083724;17095507;1714386;1717994;17192257;17207508;17224799;17254966;17254967;17274640;17293600;17353931;17361108;17371838;17386261;17409098;17409409;17431037;17495531;17631934;17638878;17661632;17671428;17713927;17927916;17970072;18042686;18156799;18174243;18198356;18199752;18202766;18208561;18276582;18281541;18285702;18345036;18372919;18400748;18408738;18455747;18470542;18471975;18507837;18559665;18604603;18615582;18617527;18632610;18635963;18667424;18781797;18784074;18806832;18850315;18941885;19061641;19066288;19091404;19101503;19103742;19124506;19166026;19197163;19201832;19225156;19238148;19258477;19270695;19321444;19423708;19440053;19470470;19483727;19556892;19594747;19596857;19603446;19609547;19622356;19631451;19686743;19703905;19706521;19723060;19724860;19732026;19738611;19773423;19786724;19797611;19822658;19829063;19838212;19838216;19854217;19858290;19885547;19960406;19966300;20017906;20062077;20068231;20079829;20098747;20102411;20147522;20160477;20195506;20399812;20422243;20444741;20465575;20508983;20512928;20587660;20694007;20711190;20733051;20837141;20844047;20871633;20935635;20956357;21048031;21062975;21088490;21092281;21099355;21139048;21145461;21148318;21233845;21241890;21262353;21264535;21319273;21325496;21372285;21447625;21454540;21515670;21565702;21596315;21646351;21651489;21658603;21697511;21699904;21704044;21769424;21804548;21840486;21871181;21890473;21906983;21918011;21941773;21952639;21963094;21965652;21988832;22084169;22087225;22158041;22231403;22467868;22474407;22479189;22505724;22623531;22654103;22673765;22718829;22768111;22770219;22819841;22927831;22951725;22951823;23000965;23028682;23064645;23065011;23082202;23140174;23184662;23185313;23230143;23300027;23321641;23390492;23390529;23443559;23446853;23455922;23479742;23532886;23602568;23643165;23670162;23671119;23678366;23720738;23727278;23737759;23776131;23776205;23781148;23787073;23926101;23972993;24075009;24204256;24216307;24302728;24390342;24444383;24623419;24947816;7553852;7569954;7629134;7630397;7644510;7716549;7743995;7780738;7799941;7903056;7969176;8033213;8101826;8127873;8230483;8242750;8242751;8259214;8275715;8393783;8397206;8397207;8463339;8475101;8510751;8565853;8601310;8606778;8610110;8617791;8622677;8626527;8641969;8647086;8647814;8662825;8684460;8692841;8692842;8756328;8756624;8764100;8806683;8867812;8917641;8978686;9019396;9029153;9030781;9041194;9053846;9054499;9139732;9150368;9178893;9188854;9190208;9192873;9199321;9218599;9223324;9244350;9258347;9311822;9311993;9315635;9334743;9372912;9380407;9380698;9464540;9467962;9472014;9525916;9545286;9546435;9566895;9632134;9632813;9636170;9658399;9660939;9677190;9710583;9716181;9724724;9731206;9811456;9840927;9840932;9840943;9858585;9858587;9885575;9886493;9889196;9891079;9933170 1017 B4DDL9;E7ESI2;G3V317;G3V5T9;P24941 AA789250;AA810989;AB012305;ABBA01008397;AC025162;AC034102;AF512553;AK291941;AK293246;AMYH02026556;AMYH02026557;BC003065;BJ991087;BT006821;CH471054;DA814453;M68520;NG_034014;NM_001290230;NM_001798;NM_052827;U50730;X61622;X62071 AAA35667;AAH03065;AAM34794;AAP35467;ABM84693;ABM92215;BAA32794;BAF84630;BAG56780;CAA43807;CAA43985;CAL38014;EAW96856;EAW96857;EAW96858;EAW96859;EAW96860;NP_001277159;NP_001789;NP_439892;P24941 Hs.19192;Hs.689624 1668514;1725283;1778245;1789819;1789821;1789823;1794926;1795550;2132882;2191269 CDK2_529;MARC_16937-16938:1017082126:1;PMC85407P1;RH118926;RH45696;RH70858;SHGC-12640;csnpcdk2-pcr1-1;csnpcdk2-pcr5-1;csnpcdk2-pcr7-1 CDKN2;p33(CDK2) OTTHUMP00000244047;OTTHUMP00000244049;OTTHUMP00000244050;OTTHUMP00000244052;cdc2-related protein kinase;cell devision kinase 2;cell division protein kinase 2;p33 protein kinase APPROVED protein-coding ENSG00000123374 HGNC:1771 00310 116953 REVIEWED 1313116 CDK20 cyclin-dependent kinase 20 The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase may activate cyclin-dependent kinase 2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Dec 2009] 9 9 9 q22.1 61147072 61155417 - 90581356 90589695 - 87966441 87974780 - 6480464;8554872 12477932;14597612;15164053;15489334;16552187;16954377;18029348;18391951;18508765;19471022;19672860;19884882;20466538;21747169;21906983;21986944;22875024;23602568;23743448;8889548 23552 Q8IZL9 ABBA01016504;AF035013;AF113130;AF547664;AI479563;AK075325;AK226135;AK291713;AK294193;AK296328;AK298993;AL353572;AMYH02021166;AY904367;BC002655;BF966262;BI757318;BM982394;BX647489;CB992644;CH471089;CQ783936;DB469301;NM_001039803;NM_001170639;NM_001170640;NM_012119;NM_178432;XM_005251860 AAC98920;AAF43778;AAH02655;AAN28684;AAW82349;BAF84402;BAG52110;BAG57509;BAG59019;BAG61083;CAF86933;EAW62743;EAW62744;EAW62745;EAW62746;EAW62747;EAW62748;EAW62749;NP_001034892;NP_001164110;NP_001164111;NP_036251;NP_848519;Q8IZL9;XP_005251917 Hs.522274 1689610;1768710;2140506;2218748 A005E17;CCRK__4529;RH92616;WIAF-2079 CCRK;CDCH;P42 CAK-kinase p42;CDK-activating kinase p42;OTTHUMP00000021607;OTTHUMP00000123392;OTTHUMP00000123393;PNQALRE;cell cycle-related kinase;cell division protein kinase 20;cyclin-dependent protein kinase H;cyclin-kinase-activating kinase p42 APPROVED protein-coding ENSG00000156345 HGNC:21420 13010 610076 REVIEWED 3563635 CDK2AP2P1 cyclin-dependent kinase 2 associated protein 2 pseudogene 1 9 9 p11.2 45363481 45363849 + 41280458 41280826 + 100289027 AL845472;AMYH02020328;NG_021654 pseudo HGNC:38492 INFERRED 1349434 CDK4PS cyclin-dependent kinase 4 pseudogene 1 1 1 p21.1 104155375 104156202 + 105976616 105977443 + 105433994 105434821 + 23192594 359941 ABBA01028441;AL590631;AMYH02001634;NG_006109 pseudo HGNC:19040 INFERRED 1604051 CDK2AP2 cyclin-dependent kinase 2 associated protein 2 This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] 11 11 11 q13 64608370 64610504 - 67273961 67276199 - 67506490 67508728 - 6480464 10082655;12477932;14702039;14985111;15489334;16169070;21832049;21900206;23781148;24250222 10263 E9PKR4;E9PQJ3;O75956;Q6IAV4 ABBA01024030;AF089814;AK001498;AK308725;AK310197;AMYH02024997;AP001184;BC002850;BC016704;BI763791;BM559572;BQ016039;BT006909;CB988039;CH471076;CR457050;CR542042;DB117561;NM_001271849;NM_005851;NR_073484 AAC61745;AAH02850;AAH16704;AAP35555;BAG50926;CAG33331;CAG46839;EAW74644;NP_001258778;NP_005842;O75956 Hs.523835 2117977 SHGC-34148 DOC-1R;FLJ10636;p14 CDK2-associated protein 2;DOC-1-related protein;OTTHUMP00000236421;OTTHUMP00000236423;cyclin-dependent kinase 2-associated protein 2;tumor suppressor deleted in oral cancer related 1;tumor suppressor deleted in oral cancer-related 1 APPROVED protein-coding ENSG00000167797 HGNC:30833 13242 REVIEWED 1353695 CDK3 cyclin-dependent kinase 3 This gene encodes a member of the cyclin-dependent protein kinase family. The protein promotes entry into S phase, in part by activating members of the E2F family of transcription factors. The protein also associates with cyclin C and phosphorylates the retinoblastoma 1 protein to promote exit from G0. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 70587026 70592127 + 73996235 74002080 + 76000906 76005999 + 727582;1580863;6480464;8554872 1639063 11733001;11955625;12097586;12477932;14702039;15084261;15951569;16344560;16964243;17081983;17192257;17620599;18029348;18794154;19953087;21067790;21139048;21145461;21832049;21890473;21903422;21906983;21988832;22654103;22939624;23443559;23455922;23602568;7882308;8242750;8626531;8626584;8846921;9150368;9190208;9811456;9840943 1018 K7EJ83;K7ELV5;Q00526 ABBA01028762;AC040980;AMYH02034003;AU146328;AY789470;BC128406;BU784937;BX098771;CH471099;DB455174;NM_001258;X66357 AAI60074;AAV40830;CAA47001;EAW89353;EAW89354;EAW89355;NP_001249;Q00526 Hs.706766 1684882;1720389;1739655 D17S1728E;G58997;RH94374 OTTHUMP00000206828;cell division protein kinase 3 APPROVED protein-coding ENSG00000250506;ENSG00000261408 HGNC:1772 00446 123828 VALIDATED 3004749 CDK2AP2P3 cyclin-dependent kinase 2 associated protein 2 pseudogene 3 9 9 q13 68370182 68371081 - 63774448 63775347 - 401525 ABBA01008945;AC246050;AL772155;NG_006137 pseudo HGNC:38494 INFERRED 733787 CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 27724307 27728473 + 30814105 30818271 + 32487087 32491253 + 704409;1580863;6480464;6484113;6907045 11125071 10604467;10721722;10753743;10830966;10915792;11113134;11168528;11389014;11583627;11604394;11741927;11784720;11882646;12037672;12084709;12223541;12226093;12230554;12477932;12491158;12688339;12826674;12832492;12832520;12859671;14521924;14702039;14976144;15013773;15123618;15175076;15342635;15489224;15489334;15492003;15536496;15689152;15741232;15917097;16189514;16407256;16425041;16678793;17036052;17060323;17121855;17207965;17491008;17493033;17496813;17591690;17762160;18053171;18247371;18325333;18829967;19081376;19154537;19638632;19874574;19913121;19953087;20097924;20354813;20518484;20618441;20628086;21130530;21220307;21544067;21625387;21772061;21832049;22654103;22964075;23151508;23602568;24085300;24725413;7556643;7592934;8090221;9010203;9038181;9933594 8851 J3QRB5;Q15078;Q8N619 ABBA01000719;AC079336;AK095754;AMYH02033319;AY376350;BC020580;BC026347;BC030792;BC032081;BC035448;BT019573;CH471147;NM_003885;X80343 AAH20580;AAH26347;AAH30792;AAQ74776;AAV38380;ADQ33201;CAA56587;EAW80227;EAW80228;NP_003876;Q15078 Hs.500015 1646295;1655873;1679058;1734520;1797382;1852598;2139382;2151896;2161236;2180762 A004P02;CDK5R1_1797;D17S1369E;D17S1458E;D17S1558;RH25988;RH66802;RH70922;SHGC-63466;SHGC-63467 CDK5P35;CDK5R;MGC33831;NCK5A;p23;p25;p35;p35nck5a CDK5 activator 1;OTTHUMP00000163708;TPKII regulatory subunit;cyclin-dependent kinase 5 activator 1;cyclin-dependent kinase 5 regulatory subunit 1;neuronal CDK5 activator;regulatory partner for CDK5 kinase;tau protein kinase II 23kDa subunit APPROVED protein-coding ENSG00000176749 HGNC:1775 04586 603460 REVIEWED 1349470 CDK5R2 cyclin-dependent kinase 5, regulatory subunit 2 (p39) The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. [provided by RefSeq, Jul 2008] 2 2 2 q35 213594140 213596619 + 219824350 219826877 + 218959628 218962155 + 1580863;6480464 10683146;10923673;10965112;11320080;11784720;12223541;12477932;12761178;15815621;15917097;19460752;20518484;20936377;23251661;24085300;7592934 8941 Q13319;Q96G76 ABBA01023853;ABBA01023854;AC097468;AI084857;AMYH02005810;BC009910;BC041771;BG703026;BT007437;CH471063;DQ307839;NM_003936;U34051 AAC50278;AAH41771;AAP36105;AAX88916;ABB96255;EAW70662;NP_003927;Q13319 Hs.158460 1700018 RH103621 NCK5AI;P39;p39I;p39nck5ai CDK5 activator 2;OTTHUMP00000164101;cyclin-dependent kinase 5 activator 2;cyclin-dependent kinase 5 activator isoform p39i;cyclin-dependent kinase 5 regulatory subunit 2;neuronal CDK5 activator isoform APPROVED protein-coding ENSG00000171450 HGNC:1776 04790 603764 REVIEWED 70825 CDK5 cyclin-dependent kinase 5 ENCODES a protein that exhibits protein serine/threonine kinase activity; acetylcholine receptor activator activity (ortholog); ErbB-2 class receptor binding (ortholog); INVOLVED IN negative regulation of neuron death; negative regulation of proteolysis; negative regulation of transcription, DNA-templated; PARTICIPATES IN ephrin - ephrin receptor bidirectional signaling axis; Reelin signaling pathway; Alzheimer disease pathway; ASSOCIATED WITH Amyotrophic Lateral Sclerosis (ortholog); Brain Ischemia (ortholog); Cocaine-Related Disorders (ortholog); FOUND IN axon (ortholog); cytoplasm (ortholog); dendrite (ortholog); INTERACTS WITH all-trans-retinoic acid; arsane; arsenic atom 7 7 7 q36 145308208 145312361 - 150750899 150755052 - 151053812 151057965 - 727582;734739;734741;734740;1580863;6480464;6484113;6907045 11268215;11343650;14502288;1639063 10049762;10500146;10544291;10604473;10683146;10721722;10762698;10884347;10896159;10915792;10936190;10995546;11104762;11113134;11163260;11168528;11181841;11254741;11278541;11311121;11320080;11389014;11483158;11516829;11583627;11604394;11675505;11684694;11733001;11741927;11743029;11784720;1181841;11823425;11865137;11882646;11955625;12056836;12064478;12071639;12077184;12084709;12154070;12223541;12226093;12372285;12372407;12387894;12435421;12477932;12491158;12690205;12691662;12765608;12769842;12796778;12824184;12826674;12832492;12832520;12855954;12963086;12970441;12972605;1330687;14521924;14704270;14741103;15013773;15030318;15123618;15178331;15342556;15345747;15489224;15489334;15492003;15652488;15741232;15790807;15834155;15890360;15911879;15917097;16327995;16356933;16407256;16413130;16519508;16712791;16862120;17036052;17045592;17060323;17078951;17121855;17145757;17290217;17327227;17419807;17491008;17493033;17581253;17591690;17611284;17713927;17762160;17906618;18042622;18076569;18247371;18326489;18350355;18408012;18460467;18480410;18487454;18490454;18598350;18676680;19001851;19050041;19170196;19343042;19363486;19514266;19514267;19514268;19615060;19625176;19692168;19693690;19700222;19718565;19764350;19822667;19913121;19953087;19960242;20013135;20133653;20213743;20234188;20345761;20354813;20357208;20360068;20379614;20453000;20491486;20516069;20628086;20651683;20673369;20720012;20826806;21044075;21139048;21145489;21163940;21209322;21220307;21289309;21335063;21415596;21435449;21465480;21482751;21600237;21671254;21701498;21712386;21741478;21799006;21825040;21832049;21844361;21890473;21900206;21922195;21924349;21963094;21987572;22078880;22223639;22505724;22547140;22654103;22696682;22753194;22768111;22778260;22829587;22833568;22874667;22899714;22939629;22964075;22990118;23206597;23332172;23362255;23377270;23401660;23443559;23455922;23543736;23602568;23728742;23941877;23955241;24085300;24091658;24098701;24121667;24135281;24235147;24447338;24607229;24797263;24816145;7566346;7834371;7949095;8090221;8090222;8275715;8702879;8764598;8891282;9013862;9038181;9150368;9199504;9244350;9353289;9396813;9422379;9478941;9545286;9546672;9565682;9596352;9614189;9735171;9771888;9832145 1020 Q00535;Q6IAW3 AACC02000108;ABBA01035167;AC010973;AK026533;AMYH02017067;AY049778;AY927560;BC005115;BP309068;BT006680;BU527089;CA429180;CB114175;CH471173;CR457041;DB487008;DQ411039;L04658;NM_001164410;NM_004935;X66364 AAH05115;AAL15435;AAP35326;ABD66016;CAA47007;CAG33322;EAL24498;EAW54049;EAW54050;EAW54051;NP_001157882;NP_004926;Q00535 Hs.647078 1651224 SGC30025 OTTHUMP00000212917;OTTHUMP00000212939;PSSALRE;TPKII catalytic subunit;cell division protein kinase 5;protein kinase CDK5 splicing;serine/threonine-protein kinase PSSALRE;tau protein kinase II catalytic subunit protein-coding ENSG00000164885 HGNC:1774 00449 123831 VALIDATED 1347592 CDK5PS cyclin-dependent kinase 5 pseudogene 8 8 8 q24.13 119970555 119971644 + 123781468 123782557 + 122769229 122770318 + 359946;392265 ABBA01037860;AC016405;AMYH02018700;NG_022432 1726323 G62462 pseudo HGNC:21261 INFERRED 732061 CDK4 cyclin-dependent kinase 4 The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008] 12 12 12 q14 57799597 57803758 - 58141510 58146304 - 57747727 57752447 - 1580863;704404;1358139;704385;625485;2314609;2314610;2314611;2293577;2289663;2293574;2289144;2299055;2289135;2299054;2289284;2289153;2293583;2296041;2299057;2293560;2293576;2293580;2299056;2293579;2293581;2314613;2293582;6480464;6907045;7240710;8694143;8554872;8694150 10319860;10919634;11311493;11358847;11971182;12070150;12163013;14522882;14648178;15161057;15797629;15991006;16236519;16413469;16440198;16534847;16648554;16896691;17692085;17962342;18082050;18301453;18310289;18678431;19634152;19695727;9916925 10022835;10049762;10198259;10202152;10342870;10353443;10359664;10447003;10486249;10491434;10499802;10580009;10585280;10601020;10602502;10639311;10713676;10719365;10748174;10788489;10908655;11120786;11132966;11157749;11254678;11254741;11291051;11310559;11360184;11395479;11426564;11556834;11668523;11684017;11779854;11828258;11867521;11884610;11896535;11900540;11940657;11971966;11982759;12006580;12036888;12036906;12077343;12082615;12130539;12190313;12357246;12383116;12477932;12509456;12519773;12529334;12531694;12545164;12565795;12601350;12676926;12680219;12684681;12731669;12857727;12949733;14641107;14646596;14647432;14672406;14694185;14701845;14754892;15003538;15004027;15024701;15050687;15065884;15147269;15169570;15169919;15208653;15232106;15241418;15480536;15489334;15505422;15558030;15695403;15761153;15821902;15860862;15880589;15922743;15998794;16109376;16169070;16189514;16205633;16326706;16449650;16476733;16582606;16601140;16690963;16758952;16782892;16913845;16949366;16962592;16985050;17015477;17043357;17047042;17053782;17072968;17139501;17205132;17274640;17304504;17334399;17353931;17374178;17409409;17420273;17505264;17517622;17530187;17540176;17556661;17620599;17664862;17881001;17892862;17895748;17909018;17955473;18006822;18023021;18174243;18202766;18281541;18285702;18291362;18361427;18413728;18484097;18507837;18537972;18615582;18624751;18628440;18632627;18636124;18676680;18703151;18710949;18769160;18776921;18781797;18799615;18803811;18823025;18827403;18839518;18850315;18949380;19011513;19040567;19075005;19080374;19124461;19124506;19141386;19143767;19170196;19197163;19225156;19237555;19237565;19238106;19258477;19320462;19320745;19327170;19430707;19447967;19470470;19487459;19556892;19625176;19626636;19692168;19737942;19738611;19861461;19890848;19913121;19917880;19935879;19960406;20020773;20100483;20102411;20179208;20196171;20354191;20453000;20534551;20581865;20601938;20618617;20628086;20713460;20736297;20819778;20837141;20842456;20939487;20951943;21042715;21048031;21051013;21053367;21062975;21085193;21099295;21139048;21145461;21148318;21278246;21317707;21325289;21336260;21383967;21412176;21419342;21426400;21455311;21477379;21559334;21593195;21675959;21715330;21777578;21832049;21890473;21900206;21903422;21906983;21952639;21988832;22052559;22053931;22094256;22158041;22289176;22301498;22301501;22315411;22357515;22394260;22418736;22505724;22654103;22733811;22825724;22905154;22939624;22939629;23174577;23292829;23324348;23383273;23384855;23443559;23455922;23462184;23469153;23529275;23543736;23546221;23602568;23622515;23684928;23707388;23707559;23718855;23737530;23737759;23761023;23776583;23839043;23852861;24065146;24091631;24163379;24256466;24302728;24390342;24444383;24604117;24614102;24771220;24797605;24982332;25002028;25036637;2948189;7478582;7568034;7603984;7606365;7652577;7739547;7739548;8001816;8078588;8101826;8114739;8139570;8221695;8259215;8275715;8449399;8528263;8619474;8622677;8626527;8647086;8662825;8666233;8703009;8741839;8756624;8805225;8867812;8978686;8999999;9003781;9106657;9110174;9111314;9139732;9150368;9163429;9178893;9190208;9192850;9199321;9228064;9244350;9311594;9311993;9315635;9372967;9380698;9396813;9425228;9464540;9482104;9529249;9545286;9632134;9658399;9716181;9837900;9840932 1019 F8VTV8;F8VWX7;F8VXD2;F8VYH9;F8VYY1;F8VZ13;F8VZ51;F8VZZ0;F8W1L8;P11802;Q6LC83;Q96BE9 ABBA01026694;AC025165;AF507942;AK297901;AK310724;AK313701;AMYH02026593;BC003644;BC005864;BC010153;BC015669;BI832658;BQ773564;CH471054;CR407668;CR542247;JB741150;JC448276;M14505;NG_007484;NM_000075;S67448;U37022;U79269;U81031;Z48970 AAA35673;AAB50213;AAC39521;AAC50506;AAD13991;AAH03644;AAH05864;AAH10153;AAH15669;AAM23014;ABM84063;ABM87419;BAG36447;BAG60221;CAA88834;CAG28596;CAG47043;CDI30203;CDM63717;EAW97058;EAW97059;EAW97060;EAW97061;EAW97062;NP_000066;P11802 Hs.95577 1646015;1744027;1745025;1793674;2139876;5015961 D12S1972;D15S1477;GDB:384863;GDB:593068;PMC25103P2;STS-M14505 CMM3;MGC14458;PSK-J3 OTTHUMP00000243624;OTTHUMP00000243627;OTTHUMP00000243628;cell division kinase 4;cell division protein kinase 4;melanoma cutaneous malignant, 3 APPROVED protein-coding ENSG00000135446 HGNC:1773 00447 123829;609048 REVIEWED 734279 CDK7 cyclin-dependent kinase 7 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008] 5 5 5 q12.1 65533029 65575634 + 68530622 68573257 + 69234795 69277430 + 1580863;6480464;6907045;8554872 10024882;10066804;10082552;10214908;10224071;10393546;10428966;10438593;10490622;10583946;10639311;10734072;10801852;10866664;10949034;10958691;10993082;11056214;11062157;11062469;11076863;11113184;11145967;11278802;11313499;11445587;11584018;11713533;12023960;12049628;12140753;12167161;12379213;12393749;12477932;12527756;12571245;12646563;12721286;14569024;15009212;15220921;15249124;15282296;15328539;15489334;15489336;15530371;15572661;15635413;15695176;15698475;15876871;16109376;16191191;16327805;16381901;16782892;17012222;17192257;17386261;17620599;17628022;17643375;17707548;17901130;18029348;18391197;18676680;18950027;19170196;1939271;19487459;19536092;19625176;19667075;19692168;19732026;19738611;19914168;19941161;20453000;20467438;20522537;20622004;21139048;21157430;21315177;21607529;21832049;21906983;21963094;21988832;22021906;22379099;22447844;22508988;22902626;22939624;22939629;23027873;23064645;23393140;23455922;23456497;23532886;23602568;23622515;23737759;23827503;24332808;2449431;24816145;7533895;7629134;7799941;7885450;7929589;7936635;7944411;8069918;8078587;8208544;8208556;8521393;8521818;8628270;8647086;8647641;8666233;8692841;8692842;8849451;8934526;8946909;9054383;9056480;9121429;9130708;9184228;9218599;9305922;9311822;9315650;9315662;9334327;9372954;9405375;9512541;9570510;9582279;9651670;9765201;9790902;9832506;9840937;9852112 1022 D6R9G1;D6R9Z2;D6RAD4;D6REC6;D6RF14;D6RFL0;D6RGG9;D6RI01;D6RIG9;P50613 ABBA01048280;AC093223;AC145132;AC145145;AK026509;AK308493;AMYH02011470;AY130859;BC000834;BC005298;BI520184;CA437275;CH471137;L20320;NM_001799;X76171;X77303;X77743;X79193;XM_005248398;XM_005276756;Y13120 AAA36657;AAH00834;AAH05298;AAM77799;CAA53766;CAA54508;CAA54793;CAA55785;CAA73587;CAL37441;CAL37482;CAL37506;CAL37988;EAW51300;EAW51301;NP_001790;P50613;XP_005248455;XP_005276813 Hs.184298 1658564;1733362;2108721;2185662 CDK7_2764;D5S1414;RH70920;SHGC-12862 CAK;CAK1;CDKN7;HCAK;MO15;STK1;p39 Mo15;p39MO15 39 KDa protein kinase;CDK-activating kinase 1;Cdk-activating kinase;OTTHUMP00000125195;OTTHUMP00000222032;OTTHUMP00000222033;TFIIH basal transcription factor complex kinase subunit;cell division protein kinase 7;cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase);homolog of Xenopus MO15 Cdk-activating kinase;kinase subunit of CAK;protein kinase;serine/threonine kinase stk1;serine/threonine protein kinase 1;serine/threonine protein kinase MO15;serine/threonine-protein kinase 1 APPROVED protein-coding ENSG00000134058 HGNC:1778 15993 601955 VALIDATED 1343382 CDK7PS cyclin-dependent kinase 7 pseudogene 2 2 2 q24.1 151680025 151681214 - 158066848 158068037 - 157210336 157211525 - 9847074 220786 ABBA01004843;AC016732;AMYH02005040;NG_001572 2185662 RH70920 pseudo HGNC:18614 INFERRED 1347674 CDK5RAP2 CDK5 regulatory subunit associated protein 2 This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 9 9 9 q33.2 93799407 93990706 - 123151147 123342448 - 120388869 120580170 - 632478;1580863;6480464;7240710;8554872;8699517 10721722 10677332;10915792;10997877;11076968;11882646;12221128;12421765;12477932;12852856;14654843;14702039;15164053;15184881;15489334;15793586;16169070;16462731;16565220;16631324;17081983;17764569;17959831;18029348;18042621;19056867;19282672;19553473;20080800;20139723;20200978;20201926;20301772;20339536;20360068;20466722;21135143;21139048;21297427;21346412;21512315;21890473;21906983;21963094;21988832;22505724;22806269;23455922;23587236;23874654;24457600;24466316;24782177;24816145;7790358 55755 B1AMJ5;B3KVI2;B9EG74;C9K0C9;F8WBJ0;F8WCI3;F8WF55;Q5JTU8;Q7Z3M0;Q96SN8 AB046853;ABBA01016249;ABBA01016250;ABBA01016251;AF087969;AF448860;AK001729;AK025867;AK027636;AK122913;AL133161;AL138836;AL353736;AL391870;AL590642;AL833481;AMYH02021567;AMYH02021568;AMYH02021569;AMYH02021570;AMYH02021571;BC004526;BC019577;BC136275;BC143732;BC143734;BC143753;BC143755;BC143760;BC143762;BC143764;BC146782;BK005504;BQ428975;BX471011;BX495012;BX537421;BX537708;BX537759;BX640896;BX953708;BX953750;CH471090;CR936622;CR936717;HI574114;HI574116;NG_008999;NM_001011649;NM_001272039;NM_018249;NR_073554;NR_073555;NR_073556;NR_073557;NR_073558;XM_006717179;XM_006717180;XM_006717181;XM_006717182;XM_006717183;XM_006717184;XM_006717185 AAH04526;AAH19577;AAI36276;AAI43763;AAI46783;AAP41926;BAA91865;BAB13459;BAB15263;BAB55253;BAG53794;CAB61487;CAD97663;CAD97819;CAD97828;CAE45944;CAI56765;CBX47546;CBX47547;DAA05504;EAW87457;EAW87458;EAW87459;EAW87460;EAW87461;EAW87462;EAW87463;NP_001011649;NP_001258968;NP_060719;Q96SN8;XP_006717242;XP_006717243;XP_006717244;XP_006717245;XP_006717246;XP_006717247;XP_006717248 Hs.269560 1342068;1653333;1701226;1856801;1856803;2128725;2156339;5493930 A005L20;AB056817;D9S1099;D9S290;G20308;RH104241;STS-T23995;WI-15097 C48;Cep215;DKFZp686B1070;DKFZp686D1070;KIAA1633;MCPH3 CDK5 activator-binding protein C48;CDK5 regulatory subunit-associated protein 2;OTTHUMP00000022800;OTTHUMP00000215329;centrosomal protein 215 kDa;centrosome-associated protein 215;centrosomin APPROVED protein-coding ENSG00000136861 HGNC:18672 09740 604804;608201 REVIEWED 1348539 CDK8 cyclin-dependent kinase 8 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit cyclin C are components of the RNA polymerase II holoenzyme complex, which phosphorylates the carboxy-terminal domain (CTD) of the largest subunit of RNA polymerase II. This kinase has also been shown to regulate transcription by targeting the CDK7/cyclin H subunits of the general transcription initiation factor IIH (TFIIH), thus providing a link between the 'Mediator-like' protein complexes and the basal transcription machinery. [provided by RefSeq, Jul 2008] 13 13 13 q12 7896857 8046682 + 26828262 26979375 + 26254125 26405238 + 1580863;6480464;8554872 10023686;10024883;10198638;10235266;10353252;10454562;10882111;10993082;11278802;11416138;11441538;11673469;11834832;11867769;12007796;12145330;12477932;12549820;12584197;14638676;14657022;14759369;14983011;15009212;15175163;15328539;15546612;15808511;15989967;16109376;16204234;16799563;17212659;17612495;18418385;18691967;18794899;18794900;19047373;19240132;19790197;19914168;20083228;20098423;20408451;20508642;20514474;20720539;21067790;21179167;21344156;21729782;21806996;21868449;22345154;22379099;22668559;22869755;22945643;23322298;23352233;23454913;23563140;23602568;23630251;23746844;23749998;23827503;24009531;24139904;24427329;24439911;7568034;8274451;8700522;9121429;9150135;9159119;9305922;9315662;9443979;9710619;9734358 1024 F5H6D4;P49336 ABBA01007913;ABBA01007914;AK296084;AK296875;AL159159;AL590108;AMYH02027731;AY702976;BC069634;BC094784;BC104492;BC105950;BC107601;CH471075;HG518164;L23208;L23311;L30109;L30110;NM_001260;X85753;XM_005266215;XM_005266216 AAH69634;AAI04493;AAI05951;AAI07602;AAU29339;BAG58839;BAG59437;CAA59754;CDI06887;EAX08384;EAX08385;EAX08386;EAX08387;NP_001251;P49336;XP_005266272;XP_005266273 Hs.382306;Hs.695166 1673108;1679003;1744717;2114090;2115299;2162394;2182208;5092918 A009C15;AB052177;D13S1656;G32412;GDB:554857;RH79173;RH80874;SGC32202 K35;MGC126074;MGC126075 CDK8 protein kinase;OTTHUMP00000018158;cell division protein kinase 8;mediator complex subunit CDK8;mediator of RNA polymerase II transcription subunit CDK8;protein kinase K35 APPROVED protein-coding ENSG00000132964 HGNC:1779 04422 603184 REVIEWED 1602114 CDK5RAP1 CDK5 regulatory subunit associated protein 1 This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013] 20 20 20 q11.21 28700397 28743101 - 31946645 31989375 - 33358839 33401569 - 6480464;8554872 10721722;10810093;10915792;11042152;11780052;11882646;12477932;14702039;15231747;15329498;15489334;16341674;16344560;19913121;20585627;20628086;20677014;21890473;21906983;21963094;22422838;22534366;23000965;23824909;24816145;8125298 51654 H0Y721;Q53H36;Q96SZ6 AA721451;ABBA01019235;AF152097;AF161516;AK023992;AK027449;AK095644;AK222745;AK292075;AK295342;AK309906;AK314532;AL355392;AMYH02036946;AY462283;AY462284;BC001215;BC050706;BM792566;BM834342;BQ072829;CH471077;CX785345;DA028522;DA565688;DC427896;DR156307;NM_001278167;NM_001278168;NM_001278169;NM_016082;NM_016408 AAD34147;AAF29131;AAH01215;AAH50706;AAS18317;AAS18318;ADZ15737;BAB14760;BAB55120;BAD96465;BAF84764;BAG58313;EAW76318;EAW76319;EAW76320;EAW76321;EAW76322;EAW76323;EAW76324;EAW76325;NP_001265096;NP_001265097;NP_001265098;NP_057166;NP_057492;Q96SZ6 Hs.435952 1645095;2127340;2132682;2144892;2180933;5022651 D11S2921;RH66064;RH66068;SHGC-30922;SHGC-30966;STS-AA010391 C20orf34;C42;CDK5RAP1.3;CDK5RAP1.4;CGI-05;HSPC167 CDK5 activator-binding protein C42;CDK5 activator-binding protein C42-like;CDK5 regulatory subunit-associated protein 1;OTTHUMP00000030645;OTTHUMP00000030646;OTTHUMP00000030647 APPROVED protein-coding ENSG00000101391 HGNC:15880 12189 608200 REVIEWED 731437 CDK5RAP3 CDK5 regulatory subunit associated protein 3 This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013] 17 17 17 q21.32 42501248 42511966 + 46047894 46059152 + 47970528 47981786 + 632478;1580863;6480464;8554872 10721722 10915792;11882646;12054757;12477932;12737517;14702039;15457556;15489334;15790566;16012757;16169070;16173922;16344560;17043677;17207965;17342744;17353931;17549666;17785205;18781797;19223857;19541669;19946888;20164180;20228063;20639865;21139048;21283629;21385901;21394385;21465471;21890473;21906983;21963094;21971960;21988832;22028922;22053931;22505724;22860085;22949513;23000965;23028987;23478299;23934736;25015289;8125298 80279 J3KRI2;J3KRK4;J3KS63;J3KSD0;J3KTA5;J3QL86;J3QL95;J3QQS7;J3QQY1;J3QRM1;J3QRX0;J3QS62;Q96JB5 AA427702;AB062433;ABBA01041150;AC018521;AF110322;AF217982;AF343090;AK000260;AK023722;AK223387;AK225274;AK300643;AK301739;AMYH02033531;BC009957;BC013407;BC072435;BM908175;CH471109;DA410409;DA410477;DB075547;DB515989;NM_001278197;NM_001278198;NM_001278216;NM_001278217;NM_176096;XM_006722113;XM_006722114 AAG17225;AAG39277;AAH09957;AAH72435;AAK69655;ADQ32625;BAB14657;BAB93496;BAD97107;BAG63203;BAH13320;EAW94772;EAW94773;EAW94774;EAW94775;EAW94776;EAW94777;EAW94778;NP_001265126;NP_001265127;NP_001265145;NP_001265146;NP_788276;Q96JB5;XP_006722176;XP_006722177 Hs.20157 1675021;1721553;1739641;2114309;2165822 D17S1721E;G59781;IB3577;RH65642;WI-11758 C53;HSF-27;IC53;LZAP;MST016;OK/SW-cl.114;PP1553 CDK5 regulatory subunit associated protein IC53-2;CDK5 regulatory subunit-associated protein 3;LXXLL/leucine-zipper-containing ARFbinding protein;cdk5 activator-binding protein c53;ischemic heart CDK5 activator-binding protein C53 APPROVED protein-coding ENSG00000108465 HGNC:18673 12190 608202 REVIEWED 1349857 CDK8PS cyclin-dependent kinase 8 pseudogene 359940 HGNC:18995 735400 CDK6 cyclin-dependent kinase 6 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Expression of this gene is up-regulated in some types of cancer. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009] 7 7 7 q21-q22 86938762 87170471 - 92234235 92465941 - 92604921 92836627 - 727582;1580863;6480464;6907045;8694143;8694150;8554872 10919634;16236519;1639063 10205165;10339564;10486249;10491434;10499802;10514479;10580009;10602502;10934208;11124804;11358847;11360184;11374878;11416152;11556834;11739795;11804329;11828325;11940479;11971966;12006580;12082615;12477932;12592386;12690205;12833137;12853948;12861051;12867429;14627988;14694185;14702039;14985467;15221005;15232106;15254224;15489334;15504546;15592455;15687240;15761153;15790678;16294322;16314645;16548883;16713569;16767702;16782892;16985050;17208333;17353931;17409409;17420273;17431401;17517622;17623298;17881001;17909018;17909067;17955473;17989712;18003885;18029348;18174243;18281541;18305152;18361427;18391950;18391951;18391952;18398432;18406353;18438866;18495667;18497076;18504428;18507837;18607543;18615582;18776921;18794853;18823025;19040567;19074885;19075005;19110536;19124506;19136653;19145199;19266077;19322201;19343178;19407485;19435910;19453261;19487459;19584075;19644859;19674979;19738611;19833767;19838216;19863319;19913121;20049410;20086245;20100483;20102411;20139978;20233754;20301772;20331971;20333249;20354191;20439292;20453000;20496072;20534551;20546612;20618617;20628086;20630868;20736297;20846217;20861610;20881960;21042715;21053367;21062975;21139048;21172447;21264532;21278246;21455311;21555518;21586211;21593195;21628465;21738478;21738479;21803798;21840486;21890473;21906983;21952639;22012619;22053931;22088371;22094256;22476749;22505724;22623979;22654103;22683624;22733811;22736304;22768111;22893700;22939624;23000965;23023438;23166591;23172372;23178712;23178718;23455922;23543736;23563607;23594394;23602568;23644744;23707559;23737530;23783093;23839043;23892592;23918663;23948297;23950948;24009066;24026436;24069260;24161991;24169358;24196439;24347572;24383407;24389100;24390342;24444383;24510775;24604117;24610393;24764564;24816145;25002028;7566098;7629134;7759865;7882308;8001816;8078588;8114739;8666233;8741839;8805225;8889548;9150368;9164930;9178893;9199321;9380698;9482104;9667749;9716181;9751050;9751051;9885575 1021 Q00534 AA312213;AB073601;ABBA01045796;ABBA01045797;ABBA01045798;ABBA01045799;ABBA01045800;ABBA01045801;AC000065;AC004011;AC004128;AC005156;AI023175;AI367890;AI400582;AI738486;AI935072;AK000660;AK055922;AK123134;AK172791;AK313491;AMYH02016268;AMYH02016269;AMYH02016270;AV726767;AW665776;AY128534;BC012914;BC027989;BC052264;BC063591;BC065026;BE893003;BG166127;BM542578;BM542629;BM542736;BM905472;BM978533;BQ048881;BQ213893;BQ231384;BQ773638;BU159055;CH236949;CH471091;NG_015888;NM_001145306;NM_001259;X66365;XM_006715835;XM_006715836 AAH52264;AAM76970;BAG36273;CAA47008;EAL24146;EAW76827;EAW76828;EAW76829;NP_001138778;NP_001250;Q00534;XP_006715898;XP_006715899 Hs.119882 1651040;1651683;1652454;1654114;1691690;1696824;1696876;1701372;1701408;1711488;1767167;1772375;1772591;1790549;1797384;2123597;2125652;2131623;2138384;2142723;2153429;2154291;2155063;2190473;5022578;5093864 A009Y04;CDK6;CDK6_2114;D1S1423;G32969;G36996;G36998;G36999;G37000;G37001;G42163;G49156;G49183;G49245;HSC197;HSC249;RH104316;RH104334;RH15849;RH17944;RH66680;RH79066;SHGC-33519;SHGC-34899;SHGC-35227;STS-X66365 MGC59692 OTTHUMP00000162478;OTTHUMP00000208823;PLSTIRE;cell division protein kinase 6;serine/threonine-protein kinase PLSTIRE APPROVED protein-coding ENSG00000105810 HGNC:1777 04533 603368 REVIEWED 1312899 CDKL1 cyclin-dependent kinase-like 1 (CDC2-related kinase) This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] 14 14 14 q21.3 30663847 30729727 - 50796122 50883179 - 50329404 50416461 - 727582;1580863;6480464 1639063 12477932;15499549;15761153;16344560;20125193;20379614;22369697;22804458;23602568;24347629;7595554;9000130 8814 H0YCE5;H0YE65;J3KMW1;Q00532 AA742987;AA780354;ABBA01018132;ABBA01018133;ABBA01018134;ABBA01018135;AF390028;AK308732;AL118556;AL359397;AMYH02029168;AMYH02029169;AY525548;BC104977;BX099583;CH471078;DA508790;HY355743;NM_001282236;NM_004196;X66358;X66359;X66361;XM_005268156;XM_005268157;XM_005268158;XM_005268159;XM_005268160 AAI04978;AAL58838;AAS00095;CAA47002;EAW65714;EAW65715;EAW65716;EAW65717;NP_001269165;NP_004187;Q00532;XP_005268213;XP_005268214;XP_005268215;XP_005268216;XP_005268217 Hs.280881;Hs.679430 2154380;2180148;5037552;5109281 D1S1425;D4S2782;D8S2279;RH44521 P42 CDC2-related kinase 1;KKIALRE;OTTHUMP00000178969;OTTHUMP00000228580;cyclin-dependent kinase-like 1;protein kinase p42 KKIALRE;serine/threonine protein kinase KKIALRE;serine/threonine-protein kinase KKIALRE APPROVED protein-coding ENSG00000100490 HGNC:1781 10348 603441 REVIEWED 1320063 CDKL2 cyclin-dependent kinase-like 2 (CDC2-related kinase) This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 73797824 73851860 - 76501704 76555721 - 75576494 75630537 - 1580863;6480464;8554872 12477932;15489334;15499549;15502848;16631599;18029348;21832049;23602568;7721825;9000130;9847074 8999 D6RBJ5;J3KNE8;Q92772 AA813092;ABBA01063344;ABBA01063345;AC096759;AC104828;AC108939;AC247041;AK294866;AK309127;AK312490;AMYH02009491;BC017417;BC093646;BC093981;CH471057;DB448184;KF495695;NM_003948;U35146;XM_005263335;XM_006714406;XM_006714407 AAC50918;AAH93646;AAH93981;BAG35392;BAG57969;EAX05740;EAX05741;NP_003939;Q92772;XP_005263392;XP_006714469;XP_006714470 Hs.591698 1740065;2151515 D4S2901;WI-22358 P56 CDC2-related kinase;KKIAMRE;OTTHUMP00000160596;OTTHUMP00000219250;cyclin-dependent kinase-like 2;p56 KKIAMRE protein kinase;protein kinase p56 KKIAMRE;serine/threonine protein kinase KKIAMRE;serine/threonine-protein kinase KKIAMRE APPROVED protein-coding HGNC:1782 16021 603442 REVIEWED 1603844 CDKL4 cyclin-dependent kinase-like 4 ENCODES a protein that exhibits ATP binding (inferred); cyclin-dependent protein serine/threonine kinase activity (inferred); protein kinase activity (inferred); INVOLVED IN metabolic process (inferred); protein phosphorylation (inferred); regulation of cell cycle (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 4-(ethoxymethylene)-2-phenyloxazol-5-one (ortholog); lead diacetate (ortholog); scopolamine (ortholog) 2 2 2 p22.1 39246740 39297635 - 39405688 39471114 - 39175995 39243973 - 6480464 12477932;19241098 344387 F8WC88;H7BZI6;Q5MAI5 ABBA01075028;ABBA01075029;ABBA01075030;AC079615;AC092672;AMYH02003638;AMYH02003639;AY845084;AY847283;BC144460;CH471053;NM_001009565;XM_006712003;XM_006712004 AAI72293;AAW30008;AAW31760;EAX00349;NP_001009565;Q5MAI5;XP_006712066;XP_006712067 Hs.403201 1784240 SHGC-156084 OTTHUMP00000164944;OTTHUMP00000204123 protein-coding ENSG00000205111 HGNC:19287 16698 PROVISIONAL 1346548 CDK9 cyclin-dependent kinase 9 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq, Jul 2008] 9 9 9 q34.1 101199168 101203915 + 130548305 130553052 + 127786026 127790773 + 1580863;6480464 10049833;10064603;10066804;10077579;10082552;10329125;10329126;10364292;10364329;10377393;10384302;10393184;10393900;10438593;10454543;10465067;10467404;10536359;10545121;10574912;10617616;10656684;10661406;10671520;10757782;10866664;10903437;10912001;10913173;10931842;10944537;10958691;10964778;10983978;11080476;11112772;11118314;11145967;11152495;11266437;11278802;11282025;11420046;11455589;11504720;11545735;11547919;11549886;11572868;11575923;11673469;11689614;11689688;11704662;11713532;11713533;11730934;11739686;11780068;11809800;11884399;12036313;12037672;12052871;12065898;12115727;12173051;12368300;12368330;12386808;12477932;12486002;12588988;12591939;12651893;12676794;12718890;12721286;12727882;12753906;12832472;12861003;12887902;12894230;12944466;12944920;14569024;14580347;14627702;14701750;14963154;14984439;15009212;15049426;15107825;15139295;15164053;15169877;15183343;15201869;15286705;15328539;15452830;15473004;15489334;15498776;15514168;15528190;15546612;15564463;15635413;15638724;15713661;15713662;15719065;15753651;15890914;15905409;15965233;15994812;16035254;16103164;16109376;16109377;16146763;16179353;16327805;16331689;16344560;16552184;16601680;16687403;16735508;16741955;16838299;16841087;16980611;17148452;17192257;17234882;17251582;17255935;17352406;17376917;17452463;17502349;17537237;17576689;17643375;17661632;17690245;17700062;17907378;17942552;17956865;17998334;18029348;18039861;18200011;18205180;18218627;18250157;18281698;18391197;18483222;18483487;18566585;18655042;18753202;18773076;18780834;18829461;18931076;18971272;18976462;18991615;19179338;19211771;19275730;19322201;19387490;19426592;19526283;19575011;19603446;19617712;19716452;19732026;19741158;19766566;19780058;19812265;19818711;19844166;19914168;19946888;19956800;20012528;20018238;20054825;20081228;20133760;20153263;20190802;20201073;20227660;20231357;20305087;20370601;20385237;20385240;20431927;20471948;20471949;20493174;20535204;20551309;20562857;20571604;20603019;20618343;20683478;20805562;20808803;20811636;20828615;20854876;20930849;20943989;20976203;20980437;21030982;21127351;21139048;21149631;21200140;21204735;21216463;21360054;21448926;21450947;21555514;21699904;21709748;21724609;21729782;21873227;21890473;21906983;21951552;21963094;21987572;21988832;22094252;22100159;22145905;22190034;22211660;22229121;22253435;22276149;22342181;22355797;22377309;22379099;22391209;22421880;22422068;22447844;22483617;22505724;22567366;22588304;22592529;22654103;22771113;22863883;22895430;22939624;22939629;22948151;22959624;22990118;23007159;23027873;23064645;23087374;23092279;23110726;23140174;23152527;23247501;23251033;23330719;23455922;23518577;23532886;23539624;23596302;23602568;23603988;23658523;23678366;23744076;23754689;23803414;23827503;23940030;24102143;24309997;24367103;24515107;24559102;24816145;24837678;24957606;25027693;25036637;7695608;7853496;8170997;8676484;8849451;8870681;9184228;9258347;9334325;9334326;9356449;9491887;9499409;9557739;9570510;9649438;9651670;9696809;9765201;9811724;9827693;9832504;9843510;9857195;9872325;9990016 1025 P50750;X6RE90 AB451289;AB451421;ABBA01043844;ABBA01043845;AF255306;AF517840;AK313828;AL162586;AMYH02021697;BC001968;BE549667;BT019903;BX091973;CH471090;DB120461;L25676;NG_033942;NM_001261;X80230 AAA35668;AAF72183;AAH01968;AAM54039;AAV38706;ABM82108;ABM85290;ABM85291;BAG36563;BAG70103;BAG70235;CAA56516;EAW87696;EAW87697;NP_001252;P50750 Hs.150423;Hs.706809 1645490;1645492;1649210;1670962;2106987;2143161;2175486 CDK9_3250.2;D9S2040;RH16566;SHGC-33502;STS-L25676;WI-15190;WI-19919 C-2k;CDC2L4;CTK1;TAK CDC2-related kinase;OTTHUMP00000022198;PITALRE;cell division cycle 2-like protein kinase 4;cell division protein kinase 9;serine/threonine protein kinase PITALRE;serine/threonine-protein kinase PITALRE;tat-associated kinase complex catalytic subunit APPROVED protein-coding ENSG00000136807 HGNC:1780 16016 603251 REVIEWED 1313632 CDK14 cyclin-dependent kinase 14 PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008] 7 7 7 q21-q22 85042762 85544656 + 90225681 90839905 + 90596362 91210590 + 1580863;6480464;8554872 10048485;11313143;12098780;12477932;12690205;12853948;15761153;16775625;17353931;17517622;17567994;18029348;19058789;19524571;19884882;20379614;21184254;21577206;22333595;22939624;23602568;24794231;9202329 5218 B4DK59;C9IYJ9;C9JWL6;E7EUK8;F8WF96;O94921 AA883846;AB020641;ABBA01045823;ABBA01045824;ABBA01045825;ABBA01045826;ABBA01045827;ABBA01045828;ABBA01045829;ABBA01045830;ABBA01045831;ABBA01045832;ABBA01045833;ABBA01045834;ABBA01045835;ABBA01045836;AC000057;AC000059;AC002065;AC002456;AC002458;AC003076;AC006036;AC017036;AC084381;AF119833;AK289782;AK295086;AK296406;AK297974;AK307484;AK316026;AMYH02016244;AMYH02016245;AMYH02016246;AMYH02016247;AMYH02016248;BC136476;BC136477;BC152388;BC152436;BC167152;BC167156;BM740394;BP336072;CH236949;CH471091;DB476188;DC325068;DC420282;DQ655962;DQ655963;DQ655965;DQ655966;DQ656060;HY179664;KF458503;KF510291;NM_001287135;NM_001287136;NM_001287137;NM_012395;XM_005250435;XM_005250436;XM_005250438;XM_005250439;XM_006716026 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;REN110448;REN110449;REN110450;REN110451;REN110452;REN110453;REN110454;REN110455;REN110456;REN110457;REN110458;REN110459;REN110460;REN110461;REN110462;REN110463;REN110464;REN110465;REN110466;REN110467;REN110468;REN110469;REN110470;REN110471;REN110472;REN110473;REN110474;REN110475;REN110476;REN110477;REN110478;REN110479;REN110480;REN110481;REN110482;REN110483;REN110484;REN110485;REN110486;REN110487;REN110488;REN110489;REN110490;REN110491;REN110492;REN110493;RH124009;RH79578;RH79963;SHGC-105171;SHGC-172111;SHGC-53026;SHGC-78196;SHGC-79903;stSG614801;stSG614802;stSG614803;stSG614804;stSG614805;stSG614806;stSG614807;stSG614808;stSG614809;stSG614810;stSG614811;stSG614812;stSG614813;stSG614814;stSG614815;stSG614816;stSG614817;stSG614818;stSG614819;stSG614820;stSG614821;stSG614822;stSG614823;stSG614824;stSG614825;stSG614826;stSG614827;stSG614828;stSG614829;stSG614830;stSG614831;stSG614832;stSG614833;stSG614834;stSG614835;stSG614836;stSG614837;stSG614838;stSG614839;stSG614840;stSG614841;stSG614842;stSG614843;stSG614844;stSG614845;stSG614846;stSG614847;stSG614848;stSG614849;stSG614850;stSG614851;stSG614852;stSG614853;stSG614854;stSG614855;stSG614856;stSG614857;stSG614858;stSG614859;stSG614860;stSG614861;stSG614862;stSG614863;stSG614864;stSG614865;stSG614866;stSG614867;stSG614868;stSG614869;stSG614870;stSG614871;stSG614872;stSG614873;stSG614874;stSG614875;stSG614876;stSG614877;stSG614878;stSG614879;stSG614880;stSG614881;stSG614882;stSG614883;stSG614884;stSG614885;stSG614886;stSG614887;stSG614888;stSG614889;stSG614890;stSG614892;stSG614893;stSG614894;stSG614895;stSG614896;stSG614897;stSG614898;stSG614899;stSG614900;stSG614901;stSG614902;stSG614903;stSG614904;stSG614905;stSG614906;stSG614907;stSG614908;stSG614909;stSG614910;stSG614911;stSG614912;stSG614913;stSG614914;stSG614915;stSG614916;stSG614917;stSG614918;stSG614919;stSG614920;stSG614921;stSG614922;stSG614923;stSG614924;stSG614925;stSG614926;stSG614927;stSG614928;stSG614929;stSG614930;stSG614931;stSG614932;stSG614933;stSG614934;stSG614935;stSG614936;stSG614937;stSG614938;stSG614939;stSG614940;stSG614941;stSG614942;stSG614943;stSG614944;stSG614945;stSG614946;stSG614947;stSG614948;stSG614949;stSG614950;stSG614951;stSG614952;stSG614953;stSG614954;stSG614955;stSG614956;stSG614957;stSG614958;stSG614959;stSG614960;stSG614961;stSG614962;stSG614963;stSG614964;stSG614965;stSG614966;stSG614967;stSG614968;stSG614969;stSG614970;stSG614971;stSG614972;stSG614973;stSG614974;stSG614975;stSG614976;stSG614977;stSG614978;stSG614979;stSG614980;stSG614981;stSG614982;stSG614983;stSG614984;stSG614985;stSG614986;stSG614987;stSG614988;stSG614989;stSG614990;stSG614991;stSG614993;stSG614995;stSG614996;stSG614997;stSG614998;stSG614999;stSG615000;stSG615001;stSG615002;stSG615003;stSG615004;stSG615005;stSG615006;stSG615007;stSG615008;stSG615009;stSG615010;stSG615011;stSG615012;stSG615013;stSG615014;stSG615015;stSG615016;stSG615017;stSG615018;stSG615019;stSG615020;stSG615021;stSG615022;stSG615023;stSG615024;stSG615025;stSG615026;stSG615027;stSG615028;stSG615029;stSG615030;stSG615031;stSG615032;stSG615033;stSG615034;stSG615035;stSG615036;stSG615037;stSG615038;stSG615039;stSG615040;stSG615041;stSG615042;stSG615043;stSG615044;stSG615045;stSG615046;stSG615047;stSG615048;stSG615049;stSG615050;stSG615051;stSG615052;stSG615053;stSG615054;stSG615055;stSG615056;stSG615057;stSG615058;stSG615059;stSG615060;stSG615061;stSG615062;stSG615063;stSG615064;stSG615065;stSG615066;stSG615067;stSG615068;stSG615069;stSG615070;stSG615071;stSG615072;stSG615073;stSG615074;stSG615075;stSG615076;stSG615077;stSG615078;stSG615079;stSG615080;stSG615081;stSG615082;stSG615083;stSG615084;stSG615085;stSG615086;stSG615087;stSG615088;stSG615089;stSG615090;stSG615091;stSG615092;stSG615093;stSG615094;stSG615095;stSG615096;stSG615097;stSG615098;stSG615099;stSG615100;stSG615101;stSG615102;stSG615103;stSG615104;stSG615105;stSG615106;stSG615107;stSG615108;stSG615109;stSG615110;stSG615111;stSG615113;stSG615114;stSG615115;stSG615116;stSG615117;stSG615118;stSG615119;stSG615120;stSG615121;stSG615122;stSG615123;stSG615124;stSG615126;stSG615127;stSG615129;stSG615130;stSG615131;stSG615132;stSG615133;stSG615134;stSG615135;stSG615136;stSG615137;stSG615138;stSG615139;stSG615140;stSG615141;stSG615142;stSG615143;stSG615144;stSG615145;stSG615146;stSG615148;stSG615149;stSG615150;stSG615151;stSG615152;stSG615153;stSG615154;stSG615155;stSG615156;stSG615157;stSG615158;stSG615159;stSG615160;stSG615161;stSG615162;stSG615163;stSG615164;stSG615165 KIAA0834;PFTAIRE1;PFTK1 OTTHUMP00000025267;OTTHUMP00000068098;OTTHUMP00000196961;PFTAIRE protein kinase 1;cell division protein kinase 14;hPFTAIRE1;serine/threonine-protein kinase PFTAIRE-1 APPROVED protein-coding ENSG00000058091 HGNC:8883 15121 610679 VALIDATED 5686927 CDKN1A-AS1 CDKN1A antisense RNA 1 p21.1 19008947 100861512 BX332409 Hs.370771 1653062;1794020 PMC310739P1;RH70551 p21NAT APPROVED ncrna HGNC:42399 1321035 CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010] 6 6 6 p22.3 21767810 22465949 + 20534688 21232635 + 20534457 21232404 + 2313949;2313941;2313947;2313940;2313946;6480464;7240710;8554872 18633108;18991055;19002430;19401414;19741467 12477932;14702039;17460697;17463246;17463248;17463249;17554300;17804762;17928989;17993580;18162508;18210030;18252897;18264689;18285412;18372903;18426861;18437351;18461161;18469204;18477659;18516622;18544707;18587394;18591388;18597214;18618095;18694974;18711366;18719881;18753662;18766326;18923449;18984664;19008344;19020323;19020324;19033397;19056611;19068216;19082521;19139842;19172244;19174780;19225753;19228808;19247372;19258404;19258437;19279076;19322201;19324937;19380854;19422935;19502414;19587699;19592620;19602701;19622614;19718565;19720844;19734900;19741166;19760754;19794065;19808892;19862325;19892838;19913121;19933996;19946888;20014019;20043145;20075150;20161779;20203524;20215779;20379614;20384434;20424228;20460429;20490451;20503258;20509872;20550665;20568056;20580033;20581827;20587610;20616309;20628086;20712903;20802253;20816152;20847106;20879858;20886065;20889853;20929593;21072187;21102463;21139019;21368910;21416855;21490949;21611789;21643948;21890473;21906983;21908934;21963094;22096510;22119613;22233651;22290723;22344219;22344221;22412018;22437209;22443257;22487833;22504420;22505724;22678362;22693455;22923468;22961080;23000965;23048041;23128233;23173044;23202124;23251661;23575436;23670970;23840313;23891004;23945395;24012816;24013783;24163127;24250222;24457600;24816145 54901 Q5VV42 ABBA01022259;ABBA01022260;ABBA01022261;ABBA01022262;ABBA01022263;ABBA01022264;ABBA01022265;ABBA01022266;ABBA01022267;ABBA01022268;ABBA01022269;ABBA01022270;ABBA01022271;AK000349;AK024151;AK128546;AK291735;AK309457;AK310219;AL022717;AL033521;AL035090;AL451080;AL512405;AL513015;AL513188;AL513549;AL590129;AMYH02013260;AMYH02013261;AMYH02013262;AMYH02013263;AMYH02013264;AMYH02013265;AMYH02013266;AMYH02013267;AMYH02013268;AMYH02013269;BC064145;BC121020;BC121021;CH471087;CS300811;KF458109;KF458111;KF458116;NG_021195;NM_017774;XM_006715127;XM_006715128 AAH64145;AAI21021;AAI21022;BAA91102;BAC87494;BAF84424;CAK32475;EAW55425;EAW55426;EAW55427;NP_060244;Q5VV42;XP_006715190;XP_006715191 Hs.657604 1338532;1646341;1647103;1653283;1663265;1704814;1708482;1714863;1714969;1717107;1723575;1748925;1756957;1785864;1788822;1788850;1788860;1788862;1789597;1789599;2126785;2126973;2130781;2177089 AL022495;AL022505;CHLC.GAAT3A06;D6S1665;D6S1950;G17034;G67593;G67594;G67595;G67596;JA01;JA02;RH119731;RH120426;RH120822;RH121472;SHGC-110580;SHGC-112097;SHGC-144125;SHGC-34186;SHGC-79428;SHGC-79876;STS-T97688;STS-W86387 FLJ20342;FLJ46705;MGC75469 CDK5 regulatory subunit-associated protein 1-like 1;OTTHUMP00000016083;tRNA-t(6)A37 methylthiotransferase;threonylcarbamoyladenosine tRNA methylthiotransferase APPROVED protein-coding ENSG00000145996 HGNC:21050 13022 125853;611259 REVIEWED 731372 CDKL3 cyclin-dependent kinase-like 3 The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 5 5 5 q31 129757884 129826544 - 133571817 133706805 - 134242941 134371114 - 1580863;6480464 10463609;12477932;12927787;15489334;15499549;17945021;18029348;18412109;20379614;21832049;21988832;23602568;24250222 51265 B4DGS2;B4DMR2;B4DRK6;B4DX41;B7Z2C5;E5RFT9;E5RGK4;E5RI54;E7ET86;H0YAP8;H0YB17;Q8IVW4 ABBA01068760;ABBA01068761;ABBA01068762;AC104109;AC109454;AF130372;AK294559;AK294740;AK297586;AK299305;AK301802;AK310955;AMYH02012240;BC041799;BX104333;CH471062;NM_001113575;NM_001300853;NM_016508;XM_005272004;XM_006714642;XM_006714643;XM_006714644;XM_006714645;XM_006714646;XR_427712 AAF36509;AAH41799;BAG57883;BAG59974;BAG61318;BAG63253;BAH11811;EAW62263;EAW62264;EAW62265;EAW62266;NP_001107047;NP_001287782;NP_057592;Q8IVW4;XP_005272061;XP_006714705;XP_006714706;XP_006714707;XP_006714708;XP_006714709 Hs.719926 1659366;1699910;2152105;5096607 D5S1947;RH103563;T03714;WI-21654 NKIAMRE;OTTHUMP00000226137;OTTHUMP00000226139;OTTHUMP00000226140;OTTHUMP00000226142;serine-threonine protein kinase NKIAMRE;serine/threonine kinase nkiatre beta;serine/threonine-protein kinase NKIAMRE APPROVED protein-coding ENSG00000006837 HGNC:15483 608459 REVIEWED 1322980 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 11 11 11 p15.5 2939161 2941708 - 2904448 2907063 - 2883218 2885832 - 1580863;2311334;6480464;6907045;7240710;8694143;8554872;8699517 10919634;11723059 10323243;10424811;10486249;10764802;11301189;11815601;11891335;11891530;11965547;12107413;12239171;12477932;12514787;12532471;12553041;12586619;12790805;12925736;12947099;12963725;14530263;14612924;14627666;14671317;15007390;15332324;15489334;15492797;15580267;15749785;15821902;15888726;15900410;15936816;15952111;15978938;15985436;16061564;16124066;16289477;16357845;16575194;16705184;16936778;16943770;16950772;17050328;17112701;17351341;17464323;17572845;1786629;17885492;17986608;18029348;18325103;18430730;18521080;18647205;18660753;18676680;18822693;19064572;19109226;19116812;19141585;19145201;19170105;19170196;19221586;19340297;19386358;19453261;19542869;19544095;19544458;19571260;19590511;19616848;19625176;19686743;19692168;19734939;20056082;20106982;20301471;20301568;20360068;20484977;20503313;20565244;20626178;20634891;20705733;21048031;21205084;21278784;21360479;21371741;21538272;21575583;21767919;21769918;21816904;21963094;22002319;22064387;22079941;22126772;22197173;22205991;22233925;22245958;22292406;22394561;22541097;22569127;22592318;22634751;22705236;22980580;22992698;23008285;23153226;23171462;23187808;23197429;23244105;23421998;23438793;23455922;23580324;23602568;23828667;23842948;23887308;23963898;24065356;24098681;24613849;24624461;24652995;7729683;7729684;8610162;8640800;8655143;8841187;8889548;8934543;9106657;9465025;9840943 1028 A6NK88;P49918 ABBA01032079;ABBA01032080;AC001228;AC013791;AMYH02024196;AMYH02024197;BC039188;BC067842;BM673714;CD676249;CH471158;D64137;NG_008022;NM_000076;NM_001122630;NM_001122631;U22398;U48869;XM_005252731;XM_005252732;XM_006725125;XM_006725126 AAA85095;AAB05896;AAH67842;BAA11014;BAA11015;EAX02524;EAX02525;NP_000067;NP_001116102;NP_001116103;P49918;XP_005252788;XP_005252789;XP_006725188;XP_006725189 Hs.106070 5491924 MARC_54883-54884:1155673702:1 BWCR;BWS;KIP2;WBS;p57;p57Kip2 IMAGE;OTTHUMP00000011736;OTTHUMP00000011738;OTTHUMP00000229152;cyclin-dependent kinase inhibitor 1C;cyclin-dependent kinase inhibitor p57 APPROVED protein-coding ENSG00000129757 HGNC:1786 02913 130650;600856;614732 REVIEWED 1353625 CDKL5 cyclin-dependent kinase-like 5 This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] X X X p22 22563823 22791841 + 18443725 18671749 + 18425605 18653629 + 1580863;6480464;7240710;8554872;8699517 12477932;12736870;15489334;15492925;15499549;15635068;15689447;15772651;15917271;16015284;16226712;16326141;16611748;16935860;17049193;17089071;17474147;17993579;18029348;18063413;18266744;18701457;18790821;18809835;19241098;19428276;19471977;19552836;19564592;19734009;19740913;19780792;19793311;20301323;20397747;20467438;20493745;20513142;20602487;20728410;21107515;21124335;21293276;21309761;21318334;21502606;21750574;21765152;21770923;21775177;21988832;22264704;22430159;22678952;22779007;22832775;22867051;22921766;22922712;23064044;23151060;23242510;23583054;23602568;23828526;24564546;24738188;8864140;9721213 6792 O76039 ABBA01071641;ABBA01071642;ABBA01071643;ABBA01071644;ABBA01071645;ABBA01071646;ABBA01071647;ABBA01071648;ABBA01071649;ABBA01071650;ABBA01071651;ABBA01071652;ABBA01071653;ABBA01071654;ABBA01071655;ABBA01071656;ABBA01071657;ABBA01071658;ABBA01071659;ABBA01071660;ABBA01071661;ABBA01071662;ABBA01071663;ABBA01071664;ABBA01071665;AI286150;AK307444;AL109798;AL704691;AMYH02038950;AMYH02038951;AMYH02038952;AMYH02038953;AY217744;BC010966;BC036091;CH471074;HQ171445;NG_008475;NM_001037343;NM_003159;X89059;XM_005274584;XM_005274585;XM_006724511;Y15057;Z92542 AAI52847;AAO64440;ADN38258;CAA61445;CAA75342;EAW98940;EAW98941;NP_001032420;NP_003150;O76039;XP_005274641;XP_005274642;XP_006724574 Hs.659851 1647290;1651652;1703016;1767943;1775386;1787370;2117966;2118238;2125670;2140532;2141924;2168508;2182674;5019795 A003B18;A009V26;CHLC.GGAT18G07;DXS7038E;DXS8000;DXS8368;G32881;L77279;L77289;RH11240;SGC35640;SHGC-170800;SHGC-32426;STS-H55764 EIEE2;ISSX;STK9 OTTHUMP00000023002;OTTHUMP00000023003;cyclin dependent kinase 5 transcript;serine/threonine kinase 9;serine/threonine-protein kinase 9 APPROVED protein-coding ENSG00000008086 HGNC:11411 02190 105830;300203;300672 REVIEWED 1602992 CDKN2AIPNL CDKN2A interacting protein N-terminal like INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; ethyl methanesulfonate 5 5 5 q31.1 129861552 129871387 - 133737756 133747598 - 134402065 134411907 - 6480464 12477932;21139048;24778252;24816145 91368 Q96HQ2 ABBA01068760;AC109454;AMYH02012243;BC008293;BC018086;BM997508;CH471062;CS072469;DB480185;NM_080656 AAH08293;AAH18086;ADZ15778;CAI93607;EAW62259;EAW62260;EAW62261;NP_542387;Q96HQ2 Hs.156506 1676029;5022450 D10S275;RH98558 MGC13017 CDKN2A-interacting protein N-terminal-like protein;CDKN2AIP N-terminal-like protein;OTTHUMP00000159388 protein-coding ENSG00000237190 HGNC:30545 14430 VALIDATED 735341 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-CDK2 or -CDK4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of CDK2, and may be instrumental in the execution of apoptosis following caspase activation. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Nov 2010] 6 6 6 p21.2 38201500 38210146 + 36644237 36655116 + 36676460 36687339 + 1580863;2289651;2289652;2289654;2289656;2289659;2289661;2289666;2289672;2289639;2289663;2296047;2289683;6480464;6484113;6907045;8662307;8662355;8662376;8661793;8662356;8694143;8662427;8661799;8661807;8662379;8662839;8662309;8662821;8662826;8662351;8662404;8661795;8662423;8662851;8662434;8662419;8662374;8662391;8662371;8662421;8547768;8662357;8662838;8662432;8662817;8662819;8662856;8661808;8662825;8662844;8662813;8662360;8662377;8662446;8662305;8662389;8661805;8662429;8662346;8662395;8662398;8662406;8661792;8661806;8662353;8661791;8662837 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1026 J3KQV0;P38936 AA534613;AB209881;AB451290;AB451422;ABBA01038265;ABBA01038266;AF497972;AI973138;AK298901;AK309512;AMYH02013558;BC000275;BC000312;BC001935;BC013967;BQ941282;BT006719;BU154329;BU193165;CH471081;CR536533;CS284542;CS284544;DA552678;DA582789;DA699672;DA702185;DA838987;HI519528;L25610;L26165;L47232;L47233;NG_009364;NM_000389;NM_001220777;NM_001220778;NM_001291549;NM_078467;S67388;U03106;U09579;Z85996 AAA16109;AAA19811;AAA85641;AAB29246;AAB59559;AAB59560;AAC04313;AAH00275;AAH00312;AAH01935;AAH13967;AAM11787;AAP35365;BAD93118;BAG61011;BAG70104;BAG70236;CAG38770;CAJ98559;CAJ98560;CAL37589;CAL37798;CBX54345;EAX03904;EAX03905;EAX03906;EAX03907;NP_000380;NP_001207706;NP_001207707;NP_001278478;NP_510867;P38936 Hs.370771;Hs.732576 1653062;1739443;1745411;1791938;1792294;1792398;1793682;1793828;1793830;1794020;1795552;1854443;5014589;5117789 CDKN1A_13;D20S716E;D6S2036;GDB:606724;GDB:607527;PMC133799P1;PMC140670P2;PMC150720P1;PMC25807P2;PMC29718P1;PMC29718P2;PMC310739P1;RH70551;WI-7311 CAP20;CDKN1;CIP1;MDA-6;P21;SDI1;WAF1;p21CIP1 CDK-interacting protein 1;CDK-interaction protein 1;DNA synthesis inhibitor;OTTHUMP00000016297;OTTHUMP00000016298;cyclin-dependent kinase inhibitor 1;cyclin-dependent kinase inhibitor 1a;melanoma differentiation associated protein 6;melanoma differentiation-associated protein 6;p21Cip1/Waf1;wild-type p53-activated fragment 1 APPROVED protein-coding ENSG00000124762 HGNC:1784 00298 116899 REVIEWED 1604354 CDKN2AIP CDKN2A interacting protein ENCODES a protein that exhibits p53 binding; INVOLVED IN negative regulation of cell growth; positive regulation of signal transduction; regulation of protein stability; FOUND IN cytoplasm; granular component; nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-fluorouracil; cisplatin 4 4 4 q35.1 181698578 181701840 + 184365788 184369348 + 183444635 183448195 + 6480464 12154087;12477932;12581788;14702039;15109303;16803988;17460193;18292944;18555516;19001376;19471022;20360068;21052095;21145461;21890473;21903422;22145905;22552337;22751105;22939629;22990118;23383273;24332808;24778252;24816145;8125298 55602 B3KTW3;D6RGD2;J3KNE1;Q9NXV6 ABBA01070499;AC112698;AF246705;AK000043;AK096180;AK225848;AMYH02010638;BC022270;BX538162;CH471056;NM_017632;XM_005263118 AAF68967;AAH22270;ABZ92045;BAA90902;BAG53225;CAD98042;EAX04691;NP_060102;Q9NXV6;XP_005263175 Hs.644077 2113640;5095052 CDKN2AIP;UniSTS:478982 CARF;FLJ20036 CDKN2A-interacting protein;OTTHUMP00000218621;OTTHUMP00000218622;collaborates/cooperates with ARF (alternate reading frame) protein;collaborator of ARF protein-coding ENSG00000168564 HGNC:24325 16683 615914 PROVISIONAL 5131079 CDKN2AIPNLP1 CDKN2A interacting protein N-terminal like pseudogene 1 1 1 1 q42.12 199871813 199872181 - 226680139 226681195 - 226492438 226493494 - 11181995 391169 ABBA01009639;AL359704;AMYH02002817;CH471098;NG_028305 EAW69786 pseudo HGNC:39854 INFERRED 69115 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014] 12 12 12 p13.1-p12 18018828 18023831 + 12870302 12875305 + 12717368 12722371 + 734746;1580863;2299085;2293591;2293608;2293624;2293589;2293594;2293582;2293574;2293610;2293619;2299088;2299091;2293605;2293590;2293616;2293628;2293592;2293615;2293630;2293607;2293623;2293593;2293595;2293627;2299089;2299090;2293596;2289127;2293625;2293626;2289652;6480464;6484113;6907045;7240710;8694143;8554872;8699517 10886076;10919634;11376116;12015771;12244302;14760081;15188025;15698433;15701850;15799773;15844214;16137007;16557226;16707124;16805985;17030811;17924468;17927588;17985331;18006855;18027869;18030569;18174243;18301453;18310289;18319192;18334837;18415709;18425369;18495610;18691549;9321826 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101;21115898;21139048;21177330;21182779;21216562;21224344;21236467;21237244;21245140;21264218;21278490;21289244;21310472;21338280;21351264;21355095;21358672;21371741;21422114;21423214;21423803;21454826;21464733;21478095;21478681;21508681;21552422;21575583;21575944;21637966;21715330;21715331;21762277;21780161;21785466;21795702;21813412;21828232;21840777;21841827;21885849;21907315;21981759;21988832;22014979;22026581;22036806;22053931;22094872;22110200;22120635;22134138;22158033;22158041;22161326;22199306;22221586;22291433;22293177;22296117;22310285;22311264;22343731;22350412;22404445;22446332;22469187;22492278;22511779;22547391;22553813;22586611;22650359;22665064;22675932;22710719;22748924;22763761;22770219;22820506;22823061;22908227;22959436;22970236;22988851;22995332;23010535;23029392;23034899;23062638;23077062;23077088;23133524;23184467;23203004;23221544;23221604;23230143;23273568;23301842;23312942;23339869;23382584;23383273;23438793;23440295;23455922;23536577;23543736;23553486;23555276;23559091;23584484;23594796;23602568;23624368;23665265;23678366;23707388;23718855;23725357;23800691;23815208;23832541;23858559;23896637;23907123;23910095;23946596;23963898;23965337;23966119;23982416;24008375;24018641;24021283;24052415;24067984;24078094;24085301;24098519;24141420;24170542;24185511;24216315;24243100;24322019;24336114;24337749;24423924;24427780;24443386;24457952;24488669;24523023;24667864;24671224;24708177;24816145;24819502;24920291;25053875;7478582;7882308;7882309;7882310;8012384;8033212;8530100;8560263;8596954;8629023;8637577;8684460;8756624;8891332;8978686;9106657;9192873;9218599;9311993;9380407;9464540;9467944;9472014;9632134;9658399;9660939;9699679;9716181;9716736;9724724;9731735;9811456;9840927;9840943;9858585;9891079 1027 E7ES52;H7C2T1;P46527;Q6I9V6 AA833962;AB451291;AB451423;ABBA01067848;AC008115;AF213700;AF247551;AF480891;AJ616234;AK298335;AK312461;AMYH02026064;AY004255;BC001971;BG701047;BT019553;BT019554;CH471094;CN311141;CR457399;CS566132;DA948043;HI179180;HY097069;HY246392;NG_016341;NM_004064;S76986;S76988;U10906;X84849;Z61220;Z61221 AAA20240;AAD14244;AAF21058;AAF69497;AAF88142;AAH01971;AAL78041;AAV38360;AAV38361;BAG35368;BAG60584;BAG70105;BAG70237;CAA59284;CAE82383;CAG33680;CAL37442;CAL38417;CAL38510;CAL38737;CAN37616;CBX53898;EAW96275;NP_004055;P46527 Hs.238990 1700578;1746721;1754381;1789300;1793918;1794548;1794640;1794968;2143022;2158049;2180002;2180004;2190795 AI843786;CDKN1B;G67939;HUM0C12B05;PMC307617P3;PMC317217P1;PMC337037P1;PMC86551P1;RH103911;RH47126;RH47169;RH69893;SHGC-132395 CDKN4;KIP1;MEN1B;MEN4;P27KIP1 OTTHUMP00000195098;OTTHUMP00000195099;cyclin-dependent kinase inhibitor 1B APPROVED protein-coding ENSG00000111276 HGNC:1785 02867 600778;610755 REVIEWED 6480988 CDKN2AIPNLP3 CDKN2A interacting protein N-terminal like pseudogene 3 13 13 40391890 40392187 - 39817753 39818050 - 100874397 ABBA01021305;AL596306;AMYH02027902;NG_032361 pseudo HGNC:39853 INFERRED 2302260 CDKN2B-AS1 CDKN2B antisense RNA 1 This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014] 9 9 9 p21.3 21933158 22059452 + 21994790 22121096 + 21994791 22121097 + 16712791;17440112;17463249;17478679;17478681;18048406;18997786;19198609;19214202;19343170;19578366;19578367;19592466;19888323;20051228;20056914;20364137;20386740;20395613;20453838;20512145;20541999;20548946;20574843;20601957;20619150;20622881;20637465;20664976;20716961;20858905;20956613;20978019;21112873;21146954;21151178;21151960;21378988;21378990;21414664;21531791;21532571;21550161;21606135;21828241;21860704;21971053;22034006;22034633;22122968;22178423;22199011;22258902;22286173;22382030;22419738;22428042;22521085;22570617;22578354;22659877;22706276;22751097;22792221;22886559;22961961;23091611;23101500;23111177;23142796;23266621;23306151;23315372;23364394;23416462;23508829;23535729;23561647;23793025;23813974;23861667;23963167;24225082;24385277;24403052;24707949;24747824;24810364 100048912 AB548314;ABBA01065169;ABBA01065170;ABBA01065171;AL354709;AL449423;AMYH02019292;BC038540;BI860238;CB109081;DB451703;DQ485453;DQ485454;EU741058;GQ422823;GQ495918;GQ495919;GQ495920;GQ495921;GQ495922;GQ495923;GQ495924;GQ495925;GQ495926;HG501921;HG501922;HG501923;HG501924;HG501925;HG501926;HG501927;HG501928;HG501929;HG501930;HG501931;HG501932;HG501933;HG501934;HG501935;HG501936;HG501937;HG975381;KF458910;NR_003529;NR_047532;NR_047533;NR_047534;NR_047535;NR_047536;NR_047537;NR_047538;NR_047539;NR_047540;NR_047541;NR_047542;NR_047543;NR_120536 Hs.493614;Hs.512599 1338997;1340007;1690342;1725615;1733768;1734304;1738453;1738455;1739743;1739835;1745623;1745869;1745871;1759555;1766929;1791382;1794624;1795046;1795050;1795144;2122223;2139960 D9S1083;D9S1604;D9S1605;D9S1748;D9S1752;D9S1814;D9S1870;D9S958;D9S975;G62023;GDB:626109;GDB:679533;GDB:679534;PMC108944P1;PMC33151P2;PMC92514P1;PMC92514P3;PMC99853P1;RH98751;SHGC-151223;SHGC-152418;STS-N34320 CDKN2B-AS;CDKN2BAS;NCRNA00089;PCAT12;RP11-145E5.4;p15AS ANRIL APPROVED ncrna ENSG00000240498 HGNC:34341 613149 REVIEWED 5130800 CDKN2AIPNLP2 CDKN2A interacting protein N-terminal like pseudogene 2 2 2 2 p23.3 26896119 26916815 - 27049656 27050400 - 26826788 26827532 - 100128579 ABBA01045189;AC011740;AMYH02003468;NG_028941 pseudo HGNC:39855 INFERRED 1347500 CDKN2A-AS1 CDKN2A antisense RNA 1 (head to head) ASSOCIATED WITH Melanoma (inferred); MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (inferred); INTERACTS WITH copper(2+) sulfate 9 9 9 p21.3 21905490 21906105 + 21967138 21967753 + 21967139 21967754 + 6480464;8554872 15164053;17081983;19664850;21048031;21385355;21406102 51198 Q9UH64 ABBA01065171;ABBA01065172;AF211119;AL449423;AMYH02019291;BX091351;NG_007485;NR_024274 AAF22974;Q9UH64 Hs.721053 2120982;2121132;2167157 D9S2060;RH67869;STS-S69824 bA149I2.3 APPROVED ncrna HGNC:23831 VALIDATED 1353635 CDL1 Cornelia de Lange syndrome 1 1956066 HGNC:1792 1344924 CDL2 Cornelia de Lange syndrome 2 HGNC:1793 737394 CDO1 cysteine dioxygenase type 1 ENCODES a protein that exhibits cysteine dioxygenase activity (ortholog); INVOLVED IN cellular nitrogen compound metabolic process (inferred); cysteine metabolic process (inferred); inflammatory response (inferred); PARTICIPATES IN cysteine and methionine metabolic pathway; taurine and hypotaurine metabolic pathway; transsulfuration pathway of homocysteine metabolism; ASSOCIATED WITH Hypertension (ortholog); Obesity (ortholog); FOUND IN cytosol (inferred); INTERACTS WITH 17beta-estradiol; 4-octylphenol; aflatoxin B1 5 5 5 q23.2 111088830 111100805 - 115140430 115152405 - 115804733 115816954 - 1300048;1580863;2301363;2301355;6480464;6907045;7242427;8554872 16627576;20162368;6726227 11101006;12110289;12477932;12871209;15302935;15489334;17207965;17327371;17353931;18033314;18976975;19199799;20515469;21139048;21988832;22011669;23028699;23630167;7524679;8835096;9497919 1036 Q16857;Q16878 ABBA01069029;AC026449;AK130357;AK314231;AL534761;AMYH02012008;AMYH02012009;BC024241;BX336206;CH471086;CR536540;D85777;D85782;NM_001801;U60232;U80055;XR_427700;Z23010;Z31357 AAB58352;AAH24241;ABM82578;ADQ32846;BAA12872;BAA12873;BAG36901;CAA80552;CAA83234;CAG38777;EAW48957;NP_001792;Q16878 Hs.442378 2136627;2178386 SGC31607;STS-Z31357 CDO;CDO-I OTTHUMP00000159131;cysteine dioxygenase, type I APPROVED protein-coding ENSG00000129596 HGNC:1795 06806 603943 VALIDATED 1316888 CDNF cerebral dopamine neurotrophic factor ENCODES a protein that exhibits growth factor activity (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4,6-trinitrobenzenesulfonic acid (ortholog) 10 10 10 p13 14789300 14808023 - 14861251 14879983 - 14819252 14837984 - 6480464 11329013;11752456;12477932;15146197;17611540;19258449;19429035;21320571;24250222 441549 Q49AH0 ABBA01034606;AC069544;AK131035;AMYH02022202;AV657190;BC037872;BC133042;BC133044;BC144619;BG213461;BQ025443;CH471072;CN311321;NM_001029954 AAH37872;AAI33043;AAI33045;EAW86263;EAW86264;EAW86265;EAW86266;NP_001025125;Q49AH0 Hs.559067 1670052 SHGC-6717 ARMETL1 ARMET-like protein 1;OTTHUMP00000019165;arginine-rich, mutated in early stage tumors-like 1;conserved dopamine neurotrophic factor protein-coding HGNC:24913 611233 VALIDATED 1317172 CDKN3 cyclin-dependent kinase inhibitor 3 The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 14 14 14 q22 34913202 34936466 + 54863657 54886936 + 54396939 54420218 + 728374;1580863;6480464;8554872 7698009 10669749;10987270;11463386;11684017;11781350;12477932;12745075;15147518;15530371;15671017;16945326;17056014;19728335;20677014;21107309;21396835;21535270;21577200;21890473;22390936;23000965;23259602;23292002;23405241;23555623;23775190;23934736;7569954;8127873;8242750;8242751;9840943;9989807 1033 F5H232;F8WD24;G3V1K6;G3V2J7;H7C0S3;Q16667 ABBA01018194;ABBA01018195;AF213033;AF213034;AF213035;AF213036;AF213037;AF213038;AF213039;AF213040;AF213041;AF213042;AF213043;AF213044;AF213045;AF213046;AF213047;AF213048;AF213049;AF213050;AF213051;AF213052;AF213053;AK098653;AK293265;AL049778;AL359792;AMYH02029217;AMYH02029218;AY194117;AY257474;AY257475;AY257476;AY257477;AY257478;BC064965;BC103633;BT019451;CH471061;CR407666;EF560750;L25876;L27711;NG_023235;NM_001130851;NM_005192;U02681;XM_005267258 AAA60222;AAA66496;AAC04932;AAH64965;AAI03634;AAK06365;AAK06366;AAK06367;AAK06368;AAK06369;AAK06370;AAK06371;AAK06372;AAK06373;AAK06374;AAK06375;AAK06376;AAK06377;AAK06378;AAK06379;AAK06380;AAK06381;AAK06382;AAK06383;AAK06384;AAN86348;AAP13062;AAP13063;AAP13064;AAP13065;AAP13066;AAV38258;ABQ59060;BAH11478;CAG28594;EAW80632;EAW80633;EAW80634;NP_001124323;NP_005183;Q16667;XP_005267315 Hs.84113 2115677;2125816;2165871 D14S1189;G35595;G36196 CDI1;CIP2;FLJ25787;KAP;KAP1;MGC70625 CDK2-associated dual specificity phosphatase;CDK2-associated dual-specificity phosphatase;Cdk-associated protein phosphatase;OTTHUMP00000178991;OTTHUMP00000244841;OTTHUMP00000244842;OTTHUMP00000244843;OTTHUMP00000244844;cyclin-dependent kinase interacting protein 2;cyclin-dependent kinase interactor 1;cyclin-dependent kinase-interacting protein 2;kinase associated phosphatase;kinase-associated phosphatase APPROVED protein-coding ENSG00000100526 HGNC:1791 00450 123832 REVIEWED 1346352 CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008] 19 19 19 p13 10571882 10574399 - 10677138 10679655 - 10566462 10568979 - 1580863;6480464;6907045;8694143 10919634 10208428;10390011;10557343;10734227;10962575;11301189;11786024;12062451;12203782;12477932;12665801;12698196;15107822;15489334;15750620;16189514;16322758;17334399;17409409;17804013;18174243;18276842;18281541;18507837;18950845;19063602;19124506;19141585;19258477;19430707;19738611;21139048;21765927;21832049;21901251;22476863;22558186;22747700;23536791;23602568;23718855;24022213;24127162;24250222;7739547;7739548;8575754;8741839;9001419;9751050;9751051;9782052 1032 P55273 ABBA01029913;AC011475;AF044171;AF061327;AF518878;AMYH02035498;BC001822;BG719545;BI462387;BI669755;CH471106;CR542158;NM_001800;NM_079421;U20498;U40343;U49399 AAA85436;AAB03772;AAB18139;AAC27450;AAD02320;AAH01822;AAM54045;ABM83798;ABM83877;ABM87119;CAG46955;EAW84122;EAW84123;NP_001791;NP_524145;P55273 Hs.435051 1793886;1797386;2137581;2148559;2152414 CDKN2D_1963;PMC303366P8;RH18055;RH66593;SHGC-35402 INK4D;p19;p19-INK4D CDK inhibitor p19INK4d;cell cycle inhibitor, Nur77 associating protein;cyclin-dependent kinase 4 inhibitor D;cyclin-dependent kinase 4 inhibitor D p19;inhibitor of cyclin-dependent kinase 4d APPROVED protein-coding ENSG00000129355 HGNC:1790 02957 600927 REVIEWED 1350416 CDPD1 corneal dystrophy and perceptive deafness 1 93976 HGNC:15704 1604405 CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008] 1 1 1 p32 49720878 49726820 + 51434367 51440309 + 50968695 50974637 + 6480464;6907045;8694143 10919634 10074345;10208428;10737800;11124804;11668523;11800646;11900540;12077144;12203782;12477932;12698196;14645011;14702039;15107819;15489334;15680327;16007099;16169070;16260494;16802342;17353931;17409409;17710155;17803708;18174243;18281541;18316595;18394558;18507837;18642058;18829482;18942719;18973139;19124506;19141585;19258477;19401813;19411068;19509251;19738611;20507346;20819778;20833334;21048031;21076409;21112821;21906983;21988832;21994415;22080569;22685290;22896639;23455922;23602568;23715670;23896637;24127162;8001816;8259215;8397372;8647873;8663131;8840966;9437433;9482104;9537438;9636670;9973200 1031 P42773;Q6ICV4 ABBA01074817;AF041248;AF041249;AF041250;AF058759;AK021794;AK091170;AL359977;AL590455;AMYH02000995;AY094608;BC000598;BC005041;BC016173;BC017036;BE783451;BE831176;CH471059;CR450289;HI558639;NM_001262;NM_078626;U17074 AAC39782;AAC39783;AAC50074;AAF28398;AAH00598;AAH05041;AAH16173;AAM11873;ABM82442;ABM85633;BAG52297;CAG29285;CBX47327;EAX06833;EAX06834;EAX06835;EAX06836;NP_001253;NP_523240;P42773 Hs.525324 1677536;1795242;5104902 CDKN2C_15;D5Lev19;RH93751 INK4C;p18;p18-INK4C CDK6 inhibitor p18;OTTHUMP00000009730;OTTHUMP00000009731;cyclin-dependent inhibitor;cyclin-dependent kinase 4 inhibitor C;cyclin-dependent kinase 6 inhibitor p18;p18-INK6 APPROVED protein-coding ENSG00000123080 HGNC:1789 04534 603369 REVIEWED 1345886 CDON cell adhesion associated, oncogene regulated This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011] 11 11 11 q24.2 122988054 123098575 - 125826713 125933187 - 125956818 126063292 - 1299440;5510025;6480464;6484113;7240533;8699517;7240710;8554872 20626350;20844013;9214393 11782431;12477932;12620190;12634428;12720294;14702039;15489334;15923648;20301702;20379614;20519495;21802063;21849809;22326621;22747683;22881374;23704328 50937 E9PN78;E9PNF2;E9PPQ7;E9PRD8;H0YCZ4;H0YEX4;Q4KMG0 AB209396;ABBA01031229;ABBA01031230;ABBA01031231;ABBA01031232;ABBA01031233;AF004841;AI190027;AK022986;AK309694;AMYH02025741;AMYH02025742;AMYH02025743;AP000821;AP000842;BC098583;BC112362;BC114435;CH471065;NG_029776;NM_001243597;NM_016952 AAC34901;AAH98583;AAI14436;BAD92633;EAW67672;NP_001230526;NP_058648;Q4KMG0 Hs.38034 1336765;1341356;1665251;1700770;1709420;1723239;1738167;1851644;2109123;2118270;2145471;2147763;5022200;5022578;5022588;5118444 CDON_9654;D11S3316;D11S3799;D11S4679;D11S975;D11S990;D1S1423;D5S1597E;L18426;RH104010;RH122306;RH16258;SHGC-34411;SHGC-57796;SHGC-81744;STS-H62229 CDO;CDON1;HPE11;MGC111524 Cdon homolog;ORCAM;OTTHUMP00000231331;OTTHUMP00000231332;cell adhesion molecule-related/down-regulated by oncogenes;surface glycoprotein, Ig superfamily member 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H APPROVED protein-coding ENSG00000064309 HGNC:17104 16372 608707;614226 REVIEWED 1604737 CDPF1 cysteine-rich, DPF motif domain containing 1 22 22 22 q13.31 30547295 30553578 - 46639910 46646193 - 46244013 46250296 - 6480464 12477932;15461802;21832049;24250222 150383 F6RAJ7;F6UL18;H9KV78;Q6NVV7 ABBA01010443;AK127072;AL078611;AMYH02038535;AW085176;BC036462;BC045796;BC067871;BX648331;CH471138;CR456415;NM_207327 AAH45796;AAH67871;CAG30301;EAW73406;EAW73407;EAW73408;EAW73409;NP_997210;Q6NVV7 Hs.103110;Hs.592209 1671225;1687814;1853966;1853968;2111964 A005R09;Cda02e06;D22S1586;G20431;SHGC-32144 C22orf40 OTTHUMP00000028822;OTTHUMP00000197571;UPF0595 protein C22orf40;cysteine-rich DPF motif domain-containing protein 1;hypothetical protein LOC150383 APPROVED protein-coding HGNC:33710 11241 VALIDATED 1348731 CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] 9 9 9 p21 21941270 21947682 - 22002902 22009312 - 22002903 22009313 - 1580863;2289697;2289695;2289684;2289696;2296066;2296065;2316081;6480464;6907045;1578522;7248760;8548689;8552306;8548686;7248756;7248757;7248758;8694143 10391689;10919634;11720438;12203782;15590562;16000597;16527513;16624482;16799475;17632454;18558284;18564286;20065947;20118908;22840486;23361049 10574984;10812241;10892805;11076863;11283613;11668523;11692873;11695244;11859969;11874489;11992549;12007796;12036898;12060387;12477932;12556369;12592382;12684640;12970781;14519636;14623092;14696398;15093610;15112341;15164053;15475071;15489334;15489336;15523694;15580267;15755508;15813917;15819981;15833197;15917995;15937071;15960923;15978938;16169070;16189514;16381901;16618910;16682076;16872319;16890288;16909113;16943770;17008550;17074388;17316622;17409409;17459456;17463246;17463248;17463249;17478679;17478681;17513607;17546638;17553787;17554300;17597576;17652530;17673925;17803708;17804762;17827400;17885492;17900658;17909067;17920725;17928989;18071362;18162508;18174243;18210030;18212765;18281541;18284544;18331779;18332116;18368387;18372903;18384396;18426861;18437351;18461161;18469204;18477659;18489844;18507837;18516622;18544707;18551412;18591388;18597214;18599554;18618095;18625718;18633108;18636124;18694974;18719881;18925945;18984664;18991055;18997786;19002430;19008344;19020323;19020324;19033397;19056611;19056724;19082521;19099629;19109226;19124506;19139842;19141585;19144660;19164764;19166692;19198609;19200577;19214202;19225753;19228808;19247372;19258404;19258437;19258477;19272367;19279076;19293724;19298278;19324937;19368689;19380854;19383911;19401414;19409979;19424593;19443857;19447967;19484265;19493449;19501493;19502414;19536092;19559344;19578363;19578366;19578367;19586936;19592620;19594747;19602701;19665068;19690970;19720844;19727727;19738611;19741166;19741467;19782398;19794065;19808892;19837270;19847924;19862325;19892838;19913121;19933996;20043145;20075150;20161779;20190193;20203524;20215779;20231302;20364137;20384434;20386740;20395613;20435627;20453000;20453838;20462933;20490451;20509872;20512145;20548946;20549515;20550665;20561406;20571754;20574843;20581827;20596618;20616309;20628086;20637465;20637757;20658957;20663777;20694560;20712903;20716961;20738937;20802253;20816152;20847058;20858905;20862607;20864173;20879858;20889853;20971364;20978019;21048031;21069533;21124069;21151178;21151960;21234743;21262917;21270820;21378990;21414664;21427129;21531791;21573907;21638516;21757289;21832049;21889114;21900206;21920947;21971053;21988832;22086844;22096510;22134481;22144573;22178423;22199011;22212460;22248274;22293688;22419738;22560925;22581228;22619049;22623142;22643932;22706276;22761751;22772967;22792221;22961080;23065809;23091611;23104006;23162013;23199516;23275143;23315372;23418593;23455922;23464438;23504555;23535729;23547836;23559091;23561647;23571652;23580324;23602568;23715670;23718855;23770605;23945395;24012816;24093775;24103848;24250222;24403052;24618291;24680834;7478582;7675459;7882351;7987828;8001816;8078588;8153634;9042862;9111314;9163429;9230210 1030 AAB32712;K7PPU3;P42772 ABBA01065171;AF004819;AF058758;AF488409;AF488410;AF488731;AF513858;AJ844637;AL449423;AMYH02019292;BC014469;BC018984;BI560960;CH471071;CR536529;JQ694046;JQ694047;JQ694048;JX391994;L36844;NG_023297;NM_004936;NM_078487;S69805;S75756;U17075 AAA50282;AAB32712;AAB69989;AAC50075;AAD14049;AAD14186;AAF28397;AAH14469;AAM44859;AAO49471;AFN61601;AFN61602;AFN61603;AGC10270;CAG38766;CAH59951;CAL37519;CAL37840;CAL38142;CAL38269;EAW58596;EAW58597;NP_004927;NP_511042;P42772 Hs.72901 1733768;1738455;1739835;1745623;1745869;1745871;1791382;2139960 D9S1605;D9S1752;D9S958;GDB:626109;GDB:679533;GDB:679534;PMC108944P1;STS-N34320 CDK4I;INK4B;MTS-2;MTS2;P15;TP15;p15INK4b CDK inhibitory protein;CDK4B inhibitor;OTTHUMP00000021154;OTTHUMP00000021155;cyclin-dependent kinase 4 inhibitor B;cyclin-dependent kinases 4 and 6 binding protein;multiple tumor suppressor 2;p14-INK4b;p14_CDK inhibitor;p14_INK4B;p15 CDK inhibitor;p15-INK4b;p15_INK4B APPROVED protein-coding ENSG00000147883 HGNC:1788 02696 600431 REVIEWED 8695234 CDR1-AS CDR1 antisense RNA This gene represents naturally-occurring RNAs transcribed in antisense to CDR1 (cerebellar degeneration-related protein 1, 34kDa; GeneID:1038), some of which may be circular rather than linear. Antisense circular RNAs bind microRNAs such as miR-7, acting as a sponge for these molecules and preventing them from interacting with target transcripts. The circular RNA produced by this locus is down-regulated by miR-671, which also decreases levels of the CDR1 transcript. No RefSeq transcript is created for the circular RNA. [provided by RefSeq, Jul 2014] q27.1 14702039;21964070;23446346;23446348 103611090 AK094540 Hs.635716 CDR1NAT;CDR1as;ciRS-7 ncrna HGNC:48926 1351000 CDRT10 CMT1A duplicated region transcript 10 94153 HGNC:14390 1321565 CDR2 cerebellar degeneration-related protein 2, 62kDa ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; hydralazine 16 16 16 p12.3 21137146 21165822 - 22357257 22385938 - 22345936 22374617 - 1580863;6480464;8554872 10465786;11988016;12477932;1505970;15081253;15489334;16054780;1763903;19581925;19680650;2014264;20379614;20383333;21080165;21988832;22351748;2260856;23531419;24722188;8889548;9344654;9637778;9809559 1039 H3BN65;H3BQS4;H3BTR1;H3BU23;H3BUE0;Q01850 ABBA01003840;AC092338;AC241556;AK292273;BC017503;BG386156;BG750955;BM714067;CB990819;CH471249;D12981;M63256;NM_001802 AAA51961;AAH17503;ABM83129;ABM83130;ABM86325;BAA02360;BAF84962;EAW50609;EAW50610;NP_001793;Q01850 Hs.513430 1663844;2114936;2122999 SHGC-12405;SHGC-30064;SHGC-61181 CDR62;Yo Yo paraneoplastic antigen;cerebellar degeneration-related protein 2;major Yo paraneoplastic antigen;paraneoplastic cerebellar degeneration-associated antigen protein-coding ENSG00000140743 HGNC:1799 06681 117340 VALIDATED 737039 CDKN2A cyclin-dependent kinase inhibitor 2A This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012] 9 9 9 p21 21906103 21932858 - 21967751 21994490 - 21967752 21994491 - 1600814;1600816;1600822;1298567;1600828;1600812;1600820;1358481;1600823;1298747;1358489;2289674;2289675;2289677;2289678;2289680;2289681;2289683;2289686;2289688;2289690;2289698;2289673;2289676;2289679;2289682;2289684;2289685;2289687;2289689;2289699;2296052;2296058;2296049;2296056;2296050;2296051;2296053;2296057;2296066;2296048;2296054;2316081;2316082;6480464;6907045;7240710;8552295;8552659;8552384;8552662;8552302;8548743;8552686;8552306;8552283;8552300;8552304;7248760;1578522;8552276;8552305;8552680;8552689;8552280;7248761;8552291;8552691;8552383;8552660;8552677;8694143;8554872;8699517;5490966 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1029 G3XAG3;J3QRG6;K7ENC6;K7ES20;K7PML8;P42771;Q8N726 AB060808;ABBA01065171;AF044170;AF115544;AF527803;AI859822;AJ844636;AL449423;AL582909;AMYH02019291;BC015960;BC021998;BI258230;BQ012762;BT007020;BX099567;CH471071;DQ318021;DQ325544;DQ406745;HI519566;JQ694043;JQ694044;JQ694045;L27211;NG_007485;NM_000077;NM_001195132;NM_058195;NM_058197;S69804;S78535;U12818;U12819;U12820;U26727;U38945;X94154;XM_005251343 AAA82236;AAA92554;AAB01737;AAB60645;AAC60649;AAD02319;AAD11437;AAD14048;AAH15960;AAH21998;AAM77919;AAP35666;AAR05391;ABC47036;ABC50001;ABD72255;AFN61598;AFN61599;AFN61600;BAB91133;CAA63870;CAH59950;CBX54364;EAW58598;EAW58599;EAW58600;EAW58601;EAW58602;EAW58603;NP_000068;NP_001182061;NP_478102;NP_478104;P42771;Q8N726;XP_005251400 Hs.512599 1698908;1733690;1734302;1739743;1744171;1744211;1744213;1744851;1744855;1745615;1745621;1745623;1745625;1745627;1745873;1745875;1792298;1792300;1793676;1794622;1794624;1795048;1795050;1795052;1795144;2113146;2113204;2120982;2121132;2167157;5117122 D9S1748;D9S2060;D9S2137;D9S2143;D9S942;D9S974;GDB:434761;GDB:437702;GDB:437709;GDB:437717;GDB:572854;GDB:572861;GDB:626084;GDB:626104;GDB:626109;GDB:626123;GDB:626126;GDB:679537;GDB:679538;PMC140684P1;PMC140684P2;PMC25103P3;PMC33151P1;PMC33151P2;PMC92514P2;PMC92514P3;PMC92514P4;PMC99853P1;RH103023;RH67869;STS-S69824 ARF;CDK4I;CDKN2;CMM2;INK4;INK4a;MLM;MTS-1;MTS1;P14;P16;P16-INK4A;P19;TP16;p14ARF;p16-INK4;p16INK4;p16INK4a;p19Arf CDK4 inhibitor p16-INK4;OTTHUMP00000021147;OTTHUMP00000215051;OTTHUMP00000215052;OTTHUMP00000215053;cell cycle negative regulator beta;cyclin dependent kinase inhibitor 2a;cyclin-dependent kinase 4 inhibitor A;cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4);cyclin-dependent kinase inhibitor 2A, isoform 4;cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3;cyclin-dependent kinase inhibitor p16;multiple tumor suppressor 1 APPROVED protein-coding ENSG00000147889 HGNC:1787 02542 155601;155755;600160;606719 REVIEWED 1352764 CDRT13 CMT1A duplicated region transcript 13 94156 HGNC:14393 1354486 CDRT11 CMT1A duplicated region transcript 11 94154 HGNC:14391 1345930 CDR1 cerebellar degeneration-related protein 1, 34kDa Autoantibodies directed against the protein encoded by this intronless gene have been found in some patients with paraneoplastic cerebellar degeneration. The encoded protein contains several hexapeptide repeats. [provided by RefSeq, Jan 2010] X X X q27.1 140239120 140240418 - 139865425 139866723 - 140783260 140784558 - 6480464;8699517;8554872 11846061;12477932;1708201;21964070;2326268;23555966;3474619 1038 P51861 ABBA01023121;AL078639;AMYH02040630;BC113472;BC113474;H98878;M16965;M31423;N79390;NG_016361;NM_004065 AAA51962;AAA52472;AAI13473;AAI13475;NP_004056;P51861 Hs.446675 1660612;2139549;5019213;5120898;5493597;5494001 CDR1;SHGC-32493;STS-M16965;UniSTS:480705;UniSTS:488077;WI-18961 CDR;CDR34;CDR62A OTTHUMP00000024168;cerebellar degeneration-related antigen 1 APPROVED protein-coding HGNC:1798 02361 302650 REVIEWED 1347087 CDRT14 CMT1A duplicated region transcript 14 94157 HGNC:14394 1602123 CDR2L cerebellar degeneration-related protein 2-like INTERACTS WITH 2-methylcholine; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; aflatoxin B1 17 17 17 q25.1 69576957 69595142 + 72983727 73001895 + 74987632 75005800 + 6480464 12477932;19322201 30850 Q86X02 ABBA01028821;AC087651;AK294006;AMYH02033982;AW239343;BC013105;BC047534;CH471099;L02867;NM_014603;XM_006721852 AAA91850;AAH47534;ABZ92326;BAG57368;EAW89223;EAW89224;EAW89225;EAW89226;NP_055418;Q86X02;XP_006721915 Hs.78358 1850344 A004N21 HUMPPA;OTTHUMP00000197354;paraneoplastic 62 kDa antigen;paraneoplastic antigen protein-coding ENSG00000109089 HGNC:29999 11041 VALIDATED 1602662 CDRT15P1 CMT1A duplicated region transcript 15 pseudogene 1 17 17 17 p12 13953653 13954753 + 13927815 13928915 + 14024498 14025598 + 11381029;12477932 94158 AA453375;ABBA01055030;AC005304;AMYH02033033;BX118788;NR_003261 Hs.633073;Hs.709554 1683018 RH92428 CDRT15P APPROVED pseudo HGNC:33168 PROVISIONAL 1354393 CDRT2 CMT1A duplicated region transcript 2 94144 HGNC:14381 1350394 CDRT1 CMT1A duplicated region transcript 1 Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 17 17 17 p12 14120922 14121515 - 15491977 15523018 - 15565482 15619704 - 6480464 10737800;11381029;12477932;14702039;15520277;7586531;8889548;9403059;9787083 374286 I3L073;J3KTF7;J3QLS4;K7ER72;O95170;Q59EB2;Q9BXD7 ABBA01006379;ABBA01016164;ABBA01035683;ABBA01035684;AC005324;AC005838;AF045592;AF337810;AK057407;AMYH02033052;AMYH02033053;AW891009;BC143291;BC171723;BF091455;BU738380;CB989113;NM_001282540;NM_006382;U43383;U65652 AAC52034;AAC69998;AAD10830;AAI72310;AAK15344;NP_001269469;NP_006373;O95170 Hs.548021;Hs.612600;Hs.632233 1712346;1720127;2115892 D17S725;G54161;RH123806 C170RF1;C17ORF1;C17ORF1A;DKFZp434O1826;FBXW10B;FBXW10P1;HREP;SM25H2 CMT1A duplicated region transcript 1 protein;Charcot-Marie-Tooth duplicated region transcript 1;F-box and WD repeat domain containing 10 pseudogene 1;F-box and WD-40 domain protein 10 pseudogene 1;OTTHUMP00000166036 APPROVED protein-coding ENSG00000241322 HGNC:14379 16699 604596 VALIDATED 2301271 CDRT15P2 CMT1A duplicated region transcript 15 pseudogene 2 FOUND IN integral component of membrane (inferred) 17 17 p12 15668017 15669003 + 15764703 15765689 + 15197164;16625196 644694 ABBA01035676;AC005324;AC015922;AMYH02033058;CF272591;NR_033865 A8MXV6 Hs.513966 CDRT15L1 APPROVED pseudo HGNC:34074 VALIDATED 1343934 CDRT5 CMT1A duplicated region transcript 5 94148 HGNC:14384 1349271 CDRT12 CMT1A duplicated region transcript 12 94155 HGNC:14392 1346673 CDRT6 CMT1A duplicated region transcript 6 p12 11381029 94149 AL037161 DKFZp564P0164 protein-coding HGNC:14385 1345039 CDRT3 CMT1A duplicated region transcript 3 94145 HGNC:14382 2298814 CDRT15L2 CMT1A duplicated region transcript 15-like 2 FOUND IN integral component of membrane (inferred) 17 17 p11.2 20483037 20484224 + 20579724 20580911 + 16625196 256223 A8MXV6 AA446206;ABBA01050442;AC015818;AC087499;AI016778;AMYH02033186;NM_001190790 A8MXV6;NP_001177719 Hs.131916 CMT1A duplicated region transcript 15 protein-like protein;OTTHUMP00000065864 protein-coding ENSG00000214819 HGNC:34075 VALIDATED 734044 CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008] 4 4 4 q21.23 82794273 82862979 + 85504057 85572493 + 84582904 84651340 + 734756;734754;734755;1580863;6480464;6907045;7240710;8554872 11746983;12533788;12610780 10681541;12477932;15489334;16344560;16461635;19913121;20628086;21890473;21906983;8863531;8889548;9115637;9407135;9806839;9889000 1040 D6RGC8;Q92903 ABBA01063481;ABBA01063482;ABBA01063483;AC104082;AI673547;AK026697;AK314245;AMYH02009632;AMYH02009633;AU139278;BC074833;BC074881;BE504303;CA313675;CH471057;DN915398;NM_001263;U60808;U65887;XM_005262687 AAC50735;AAC51184;AAH74833;AAH74881;BAG36912;EAX05950;EAX05951;NP_001254;Q92903;XP_005262744 Hs.654899;Hs.708641 1646766;1671701;2115109;2159895;2168488;5091355 G16738;SHGC-50798;SHGC-59679;SHGC-59792;SHGC-67258;WI-11924 CDS;CDS 1 CDP-DAG synthase 1;CDP-DG synthase 1;CDP-DG synthetase 1;CDP-diacylglycerol synthase 1;CDP-diglyceride pyrophosphorylase 1;CDP-diglyceride synthase 1;CDP-diglyceride synthetase 1;CTP:phosphatidate cytidylyltransferase 1;OTTHUMP00000160984;phosphatidate cytidylyltransferase 1 APPROVED protein-coding ENSG00000163624 HGNC:1800 11944 114480;176807;259500;603548;609265 REVIEWED 1349224 CDRT7 CMT1A duplicated region transcript 7 (non-protein coding) 17 17 17 p12 14958926 14959908 + 14934292 14935274 + 15030975 15031957 + 11381029 94150 ABBA01055037;AC005772;AI218510;AMYH02033043;BX093265;HG508710;NR_033371 Hs.147654 LINC00025;NCRNA00025 ncrna ENSG00000259944 HGNC:14386 PREDICTED 1351857 CDRT4 CMT1A duplicated region transcript 4 INTERACTS WITH calcitriol; cyclosporin A; hydrogen peroxide 17 17 17 p12 15363875 15395464 - 15339332 15370925 - 15436015 15467611 - 6480464 11381029;12477932;14702039;16344560;17903307;8889548 284040 D3DTT2;G3V5I9;Q8N9R6 ABBA01055043;AC005517;AK093993;AK126240;AK172733;AMYH02033051;BC029542;BM971397;BX379636;CH471108;DB105410;KF573687;NM_001204477 AAH29542;BAC04263;EAW89938;EAW89941;NP_001191406;Q8N9R6 Hs.164595;Hs.731765 1336046;1763275;5022200;5022651 D11S2921;D17S261;L18426;SHGC-147004 FLJ36674;MGC33988;NBLA10383 CMT1A duplicated region transcript 4 protein;putative protein product of Nbla10383 protein-coding ENSG00000239704 HGNC:14383 08208 VALIDATED 1344073 CDRT9 CMT1A duplicated region transcript 9 p12 11381029 94152 AI220152 protein-coding HGNC:14389 1353579 CDRT8 CMT1A duplicated region transcript 8 17 17 p12 15008302 15009504 - 15104985 15106187 - 11381029 94151 AA432141;ABBA01055038;AC005772;AMYH02033044;CR737651;NR_103559 Hs.738881;Hs.98684 1676406 RH98604 ncrna HGNC:14387 VALIDATED 1603575 CDRT15 CMT1A duplicated region transcript 15 17 17 17 p12 13953669 13954646 + 14139173 14140150 - 14235673 14236862 - 11381029;12477932;20467438 146822 F2Z3C1;Q96T59 ABBA01055033;AC005224;AF355097;AMYH02033034;BC071823;BC146859;CH471108;NM_001007530;XM_006721458 AAI46860;AAK39098;EAW89958;NP_001007531;Q96T59;XP_006721521 Hs.735172 1683018 RH92428 CMT1A duplicated region transcript 15 protein;OTTHUMP00000064700;OTTHUMP00000161019 protein-coding ENSG00000223510 HGNC:14395 16700 PROVISIONAL 1353195 CDSN corneodesmosin This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 32683083 32688466 - 31082865 31088252 - 31115088 31120475 - 1599783;1580863;6480464;7240710;8554872;8699517 12754508 10599883;11169256;11279026;11739386;12366786;12472658;12477932;12653732;15086562;15140227;15333584;15466487;15654960;15953084;16297191;16344560;16642438;16713569;16965413;18369457;19851445;20041166;20139978;20448140;20691404;21134591;21139048;21182673;21191406;21221983;21628128;21738480;21800051;22033905;22875505;23263863;23537643;23955597;24116970;4141628;7818278;8415725;9395522;9712893 1041 G8JLG2;Q15517;Q2L6G8 AB088114;ABBA01038068;AF030130;AF224747;AF224748;AF224749;AF224750;AF224751;AF224752;AF224753;AF224754;AF224755;AF224756;AF224757;AF224758;AF286165;AF491326;AF491328;AF491330;AI768204;AJ238461;AJ238462;AJ238463;AJ238464;AJ238465;AJ238466;AJ238467;AK292636;AL662844;AL662867;AL773544;AMYH02013443;AU134804;AY328474;AY328475;BC031993;BX927139;CH471081;CR753819;CR759805;L20815;NG_012192;NG_021348;NM_001264 AAA21321;AAC24196;AAF78559;AAF78560;AAF78561;AAF78562;AAF78563;AAF78564;AAF78565;AAF78566;AAF78567;AAF78568;AAF78569;AAF78570;AAG02419;AAH31993;AAN70994;AAN70995;AAN70996;AAP94640;AAP94641;ABM82509;ABM85703;BAC54948;BAF85325;CAB57266;CAB57267;CAB57268;CAB57269;CAB57270;CAB57271;CAB57272;EAX03358;NP_001255;Q15517 Hs.310958;Hs.556031 1338964;2120024;2169589;5125915;7184417;7185440;7188001 D6S1607;D6S1701;D6S1727;D6S276;RH15771;RH17634 D6S586E;HTSS;HTSS1;HYPT2;PSS;S OTTHUMP00000029207;differentiated keratinocyte S protein APPROVED protein-coding ENSG00000204539 HGNC:1802 03998 146520;270300;602593 REVIEWED 5135108 CDV3P1 CDV3 pseudogene 1 3 3 q11.2 96495779 96496531 + 96776935 96777687 + 100129736 ABBA01026945;AC109782;AMYH02007279;NG_022257 APPROVED pseudo HGNC:42387 INFERRED 731362 CDS2 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008] 20 20 20 p13 5177503 5242010 + 5107407 5178533 + 5126761 5197887 + 1580863;6480464;6907045;8554872 11780052;12457874;12477932;14702039;15342556;15489334;17081983;19913121;19946888;20379614;20628086;21890473;21906983;21988832;23464991;24250222;9407135;9806839;9889000 8760 O95674 ABBA01053874;ABBA01053875;AF069532;AK001414;AK022998;AK027695;AK091045;AK095430;AK123831;AK130193;AK303426;AK304763;AK315489;AL121755;AL121924;AMYH02036637;AMYH02036638;AMYH02036639;BC015432;BC025346;BC025751;BC044234;BP353230;CH471133;NM_003818;XM_006723660;Y16521 AAC78305;AAH25751;ABM82569;ABM85758;BAG37873;BAG50907;BAG51366;BAG64477;BAG65518;CAA76270;EAX10424;EAX10425;EAX10426;NP_003809;O95674;XP_006723723 Hs.126857 1679922;1777314;2107919;2141111 CDS2_8852;RH18488;RH28677;Z94657 CDS 2;FLJ12936;FLJ38111;FLJ41837 CDP-DAG synthase 2;CDP-DG synthase 2;CDP-DG synthetase 2;CDP-diacylglycerol synthase 2;CDP-diglyceride diphosphorylase 2;CDP-diglyceride pyrophosphorylase 2;CDP-diglyceride synthase 2;CDP-diglyceride synthetase 2;CTP:phosphatidate cytidylyltransferase 2;OTTHUMP00000030194;OTTHUMP00000030195;phosphatidate cytidylyltransferase 2 APPROVED protein-coding ENSG00000101290 HGNC:1801 09150 603549 REVIEWED 1604278 CDT1 chromatin licensing and DNA replication factor 1 The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011] 16 16 16 q24.3 73938823 73944303 + 88870186 88875666 + 88803778 88809258 + 6480464;7240710;8554872;8699517 10436018;10766248;10898791;11095689;11125146;11555648;11896191;11931757;12045100;12192004;12429841;12477932;12840033;14578910;14672932;14993212;15004027;15138268;15232106;15257290;15260975;15284237;15302935;15448697;15489334;15855168;16261166;16273206;16362051;16407242;16407252;16482215;16835273;16861906;16940174;16949367;17029205;17079684;17085480;17261582;17318181;17598984;18006835;18029348;18162579;18184650;18288374;18508524;18617514;18650381;18657502;18832067;19054765;19276081;19906994;20139978;20308539;20609246;20929861;20980834;21099365;21115485;21139048;21224399;21358631;21358632;21628527;21729526;21846465;21856198;21890473;21906983;21930785;21937426;21963094;21981919;22140117;22333897;22451935;22505724;22560525;22581055;22918581;22939629;23029527;23152514;23455922;24163370;24250222;24423875;24906324;8619474;9110174 81620 H3BSY1;Q9H211 AB053172;ABBA01013586;AC092384;AF070552;AF321125;AMYH02032647;BC000137;BC008676;BC008860;BC009410;BC014202;BC021126;BC049205;CH471184;NG_028266;NM_030928 AAG45181;AAH00137;AAH08676;AAH08860;AAH09410;AAH14202;AAH21126;AAH49205;BAB61878;EAW66762;EAW66763;EAW66764;NP_112190;Q9H211 Hs.122908 5014051;5037552 D8S2278;D8S2279 DUP;RIS2 DNA replication factor Cdt1;Double parked, Drosophila, homolog of;double parked homolog APPROVED protein-coding ENSG00000167513 HGNC:24576 06900 605525;613804 REVIEWED 1602107 CDV3 CDV3 homolog (mouse) FOUND IN cytoplasm; nucleolus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-) 3 3 3 q22.1 131719262 131736216 + 133292434 133309118 + 133573590 133590274 + 6480464 10497265;12359334;12477932;14702039;15144186;15146197;15342556;15580267;16094384;16341674;16344560;18029348;19322201;21811255;21906983;22863883;22939629;23568457;24250222;24816145;8889548 55573 D6R973;D6R9V8;D6RAV0;D6RDN0;D6RFH2;H0Y8K3;Q9UKY7 ABBA01059166;AC016255;AF103803;AK025647;AK026272;AK096865;AMYH02007705;BC007338;BC034727;BG773216;BM676291;BM798790;BP215961;BP336445;CB268158;CH471052;CN342000;CR991255;DA949679;DB066830;DB455474;NM_001134422;NM_001134423;NM_001282762;NM_001282763;NM_001282764;NM_001282765;NM_017548;XM_005247588;XM_005247589;XM_005247590;XM_005247591;XM_005247592;XM_005247594 AAF02423;AAH07338;BAG53384;EAW79176;EAW79177;NP_001127894;NP_001127895;NP_001269691;NP_001269692;NP_001269693;NP_001269694;NP_060018;Q9UKY7;XP_005247645;XP_005247646;XP_005247647;XP_005247648;XP_005247649;XP_005247651 Hs.518265 1735112;1739803;1772835;2135372 D3S2787E;D3S3480E;RH47115;STS-H62875 H41 OTTHUMP00000216402;OTTHUMP00000216403;OTTHUMP00000216404;OTTHUMP00000216405;OTTHUMP00000216406;OTTHUMP00000216408;OTTHUMP00000216409;carnitine deficiency-associated gene expressed in ventricle 3;protein CDV3 homolog protein-coding ENSG00000091527 HGNC:26928 13627 VALIDATED 1321203 CDX1 caudal type homeobox 1 This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. [provided by RefSeq, Jul 2008] 5 5 5 q32 145627721 145645499 + 149546344 149564121 + 150166781 150184558 + 1580863;6480464 11846061;12124393;12477932;12970739;14704280;14715525;15143193;15215241;15489334;15774940;15894614;18187048;18231635;18953412;19059241;19188603;19468668;19781065;21518475;21532856;22016432;22749770;23112162;23127929;23185413;23329892;23353818;23613102;23618814;23624503;23918153;24639526;8530027;8563749;9036867 1044 P47902;Q14DX0 ABBA01026284;AC005895;AF239666;AMYH02012455;BC096249;BC096250;BC096251;BC096252;BC127122;CH471062;KF458034;NM_001804;U15212;U16360;U51095 AAA80284;AAB40602;AAC50237;AAF61234;AAH96249;AAH96250;AAH96251;AAH96252;AAI27123;EAW61745;NP_001795;P47902 Hs.1545 1797388;2163278 CDX1_2315;RH70663 MGC116915 OTTHUMP00000160524;OTTHUMP00000223968;caudal type homeo box transcription factor 1;caudal type homeobox transcription factor 1;caudal-type homeobox protein 1;caudal-type homeobox protein CDX1;homeobox protein CDX-1 APPROVED protein-coding ENSG00000113722 HGNC:1805 02849 600746 REVIEWED 1351181 CDX4 caudal type homeobox 4 This gene encodes a member of a small subfamily of homeobox containing transcription factors. The encoded protein may regulate homeobox gene expression during anteroposterior patterning and hematopoiesis. [provided by RefSeq, Aug 2012] X X X q13.2 72950582 72957913 + 72667090 72674421 + 73447254 73454585 + 1580863;6480464 12477932;14505364;15684390;15772651;15831705;17068127;17881901;18274620;18371423;19371634;19796250;21471217;21518475;22721648;23038246;24722188;7655457;9321471 1046 O14627 ABBA01059677;ABBA01059678;AF003530;AF029877;AF029878;AF029879;AL450108;AMYH02039771;BC128233;CH471104;NM_005193 AAB66319;AAD01894;AAI28234;EAW98667;NP_005184;O14627 Hs.553488 OTTHUMP00000023566;caudal type homeo box transcription factor 4;caudal type homeobox transcription factor 4;caudal-type homeobox protein 4;homeobox protein CDX-4 APPROVED protein-coding HGNC:1808 02065 300025 REVIEWED 730914 CDX2 caudal type homeobox 2 This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. This protein also plays a role in early embryonic development of the intestinal tract. Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis. [provided by RefSeq, Jan 2012] 13 13 13 q12.3 9611324 9618360 - 28536205 28543505 - 27962068 27969368 - 734757;1580863;6480464;7349348 23011828;9052785 10506141;10677375;11161380;11729123;11733373;11846061;11871772;12117877;12270138;12477932;12518221;12559945;12947088;12968672;12970742;13679455;14525978;14557879;14576477;14615935;15048136;15167938;15190067;15205684;15215241;15217781;15240568;15327990;15362373;15466189;15489334;15517368;15547744;15619975;15645288;15677472;15722794;15774940;15782100;15894926;15994917;16027724;16144916;16291394;16331267;16361536;16480684;16509871;16618413;16788384;16794828;16831200;16963449;16996572;17297462;17468517;17534889;17549351;17599044;17614034;17852856;17855634;17876541;17906616;17957487;18038313;18051367;18156982;18184409;18187048;18250063;18251778;18254783;18353622;18495206;18500171;18581275;18587323;18703641;18752499;18753946;18754095;18843504;18854960;18992917;19047909;19098678;19106744;19117933;19158837;19212618;19218548;19251954;19266212;19336002;19371634;19383647;19414376;19415720;19421714;19449081;19460469;19468668;19578052;19584150;19617623;19686845;19724852;19761587;19762530;19781065;19782160;19795349;19817898;19820687;20043087;20044613;20075618;20127720;20133952;20198783;20298183;20298184;20351696;20367284;20444732;20514449;20518411;20551175;20602288;20619754;20658368;20671195;20696899;20699370;21074721;21221798;21221877;21224344;21225631;21284881;21362237;21364588;21518475;21532856;21572312;21739268;21816365;21903586;21909647;22016432;22076569;22078291;22202456;22261707;22268990;22326557;22364879;22407102;22438068;22449796;22495359;22502678;22523209;22547830;22563170;22580340;22671145;22719836;22783055;22791809;22810971;22824143;22829163;22892849;22895272;22895825;23026509;23105122;23112155;23127929;23133598;23181722;23202735;23313847;23317240;23382633;23384906;23393221;23439753;23488912;23545100;23546539;23568430;23574843;23613102;23649760;23734674;23834763;23864778;23887079;23918153;23958315;24025523;24103759;24166180;24287273;24489794;24501326;24908142;24953186;24974686;25101906;7698771;7935448;8635654;9036867;9247466;9459001;9933478 1045 Q99626 ABBA01035736;AF007886;AJ278431;AL591024;AMYH02027761;AMYH02027762;BC014461;BI085425;CH471075;KJ081251;NM_001265;U51096;Y13709 AAB40603;AAD05200;AAH14461;ABM84552;ABW03475;AIJ19452;CAA74038;CAB94779;EAX08422;NP_001256;Q99626 Hs.174249;Hs.740844 1773199;2158781 RH48331;STS-U51096 CDX-3;CDX2/AS;CDX3 OTTHUMP00000018176;caudal type homeo box transcription factor 2;caudal type homeobox transcription factor 2;caudal-type homeobox protein 2;homeobox protein CDX-2 APPROVED protein-coding HGNC:1806 02622 600297 REVIEWED 1604526 CDY10P chromodomain protein, Y-linked 10 pseudogene Y Y Y q11.223 178561 180190 - 23798487 23801354 - 21636601 21639468 - 12815422;9847074 140043 AC021107;NG_004832 pseudo HGNC:23848 VALIDATED 1347031 CDY1 chromodomain protein, Y-linked, 1 This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] Y Y Y q11.23 10357497 10360282 - 27768264 27771049 + 25622117 25624902 + 1580863;6480464 10192397;10655032;10956550;11163833;11263480;12072557;12149400;12477932;12815422;12837688;14569460;18326516;18807255;20039973;20301513;20663794;21474125;25042452;9381176;9806824 9085 Q9Y6F8 AC007562;AF000981;AF080597;AK292375;BC033041;BC132955;NG_004755;NG_011754;NM_004680;NM_170723 AAC52116;AAD22732;AAI32956;BAF85064;NP_004671;NP_733841;Q9Y6F8 Hs.159281 2188867;5104946;5106039;5106041;5107373;5112343;5115904;5121198 G34975;G65845;G65870;RH103714;sY1260;sY1262;sY1263;sY639 CDY;CDY1A;CDY1B;FLJ77185 OTTHUMP00000042673;OTTHUMP00000042674;chromodomain protein, Y chromosome, 1;testis-specific chromodomain protein Y 1;testis-specific chromodomain protein on Y APPROVED protein-coding ENSG00000172288 HGNC:1809 02457 400016 REVIEWED 1605210 CDY12P chromodomain protein, Y-linked 12 pseudogene Y Y Y q11.223 8770927 8816293 + 24210744 24211952 + 22064597 22065805 + 12815422;9847074 386734 AC007359;NG_004755 pseudo HGNC:23856 VALIDATED 1604155 CDY11P chromodomain protein, Y-linked 11 pseudogene Y Y Y q11.223 8530305 8532268 + 23858031 23861059 + 21696145 21699173 + 12815422;9847074 378014 AC021107;NG_004832 1667237 DYF77S1 pseudo HGNC:23852 VALIDATED 1605208 CDY14P chromodomain protein, Y-linked 14 pseudogene Y Y q11.223 25820425 25821632 + 23674278 23675485 + 12815422;9847074 386736 AC016752;NG_004755 pseudo HGNC:23858 VALIDATED 1605209 CDY13P chromodomain protein, Y-linked 13 pseudogene Y Y q11.223 24666735 24667943 - 22520588 22521796 - 12815422;9847074 386735 AC008175;NG_004755 pseudo HGNC:23857 VALIDATED 1605206 CDY16P chromodomain protein, Y-linked 16 pseudogene Y Y Y q11.223 10081056 10082386 + 26007617 26008947 - 23861470 23862800 - 12815422 386738 AC073649;NG_004755 pseudo HGNC:23860 VALIDATED 1605207 CDY15P chromodomain protein, Y-linked 15 pseudogene Y Y Y q11.223 10073857 10077098 - 26000418 26003659 - 23854271 23857512 - 12815422 386737 AC073649;NG_004755 pseudo HGNC:23859 VALIDATED 1605205 CDY17P chromodomain protein, Y-linked 17 pseudogene Y Y Y q11.223 10362125 10363812 - 26195924 26198060 - 24049777 24051913 - 12815422;9847074 386739 ABBA01030396;AC068601;NG_004755 pseudo HGNC:23861 VALIDATED 1605204 CDY18P chromodomain protein, Y-linked 18 pseudogene Y Y Y q11.223 10393968 10418336 + 26249933 26253380 + 24103786 24107233 + 12815422 386740 AC023274;NG_004755 5021780;5022979;5116088;5116128;5116130;5116148;5116152 sY1938;sY1962;sY1963;sY1964;sY1965;sY1977;sY1980 pseudo HGNC:23862 VALIDATED 1605203 CDY19P chromodomain protein, Y-linked 19 pseudogene Y Y q11.223 27709054 27712501 - 25562907 25566354 - 12815422;9847074 386741 AC007562;NG_004755 pseudo HGNC:23863 VALIDATED 1605202 CDY20P chromodomain protein, Y-linked 20 pseudogene Y Y Y q11.223 10362125 10363812 - 27764365 27766501 + 25618218 25620354 + 12815422;9847074 386742 AC007562;NG_004755 pseudo HGNC:23864 VALIDATED 1605201 CDY21P chromodomain protein, Y-linked 21 pseudogene Y Y Y q11.223 10081056 10082386 - 27953451 27954781 + 25807304 25808634 + 12815422;9847074 386743 AC017005;NG_004755 pseudo HGNC:23865 VALIDATED 1604499 CDY1B chromodomain protein, Y-linked, 1B This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10357497 10360282 - 26191376 26194161 - 24045229 24048014 - 6480464 10192397;10655032;10956550;11163833;11263480;12072557;12149400;12477932;12815422;12837688;14569460;15489334;18450745;23314748;9381176;9806824 253175 Q9Y6F8 ABBA01030396;AC068601;AK292318;BC132929;NG_004755;NM_001003894;NM_001003895 AAI32930;BAF85007;NP_001003894;NP_001003895;Q9Y6F8 Hs.562095 2188867;5104946;5106039;5107373;5112343;5115904;5121198 G34975;G65845;G65870;RH103714;sY1260;sY1262;sY639 CDY;CDY1 OTTHUMP00000042554;OTTHUMP00000042555;chromodomain protein, Y chromosome, 1, centromeric;testis-specific chromodomain protein Y 1;testis-specific chromodomain protein on Y, centromeric APPROVED protein-coding ENSG00000172352 HGNC:23920 16702 REVIEWED 1605200 CDY22P chromodomain protein, Y-linked 22 pseudogene Y Y Y q11.223 10073857 10077098 - 27958739 27961980 + 25812592 25815833 + 12815422;9847074 386744 AC017005;NG_004755 pseudo HGNC:23866 VALIDATED 1605199 CDY23P chromodomain protein, Y-linked 23 pseudogene Y Y q11.23 28140738 28141945 - 25994591 25995798 - 12815422;9847074 386745 AC007965;NG_004755 pseudo HGNC:23867 VALIDATED 3051403 CDY24P chromodomain protein, Y-linked 24 pseudogene Y q11.221 20024476 20033610 - 12815422;9847074 387360 AC009976;NG_004636 5021774;5022973;5022975;5116084;5116086;5116092;5116094;5116110;5116112;5116126;5116142;5116164;5116174 sY1934;sY1935;sY1936;sY1937;sY1940;sY1941;sY1942;sY1953;sY1954;sY1961;sY1973;sY1988;sY1994 pseudo HGNC:38080 REVIEWED 1604722 CDY2B chromodomain protein, Y-linked, 2B This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008] Y Y Y q11.222 10358327 10360283 - 19990140 19992099 - 17878260 17880219 - 6480464 10192397;10655032;12072557;12149400;12438810;12477932;12575791;12815422;15489334;21145461;9381176;9806824 203611 Q9Y6F7 AC009976;BC069087;BC130426;BC130428;NG_004636;NM_001001722 AAH69087;AAI30427;AAI30429;NP_001001722;Q9Y6F7 Hs.532657 2144755;2188869;5021738;5104946;5106039;5107373;5115904 G38355;G65845;G65871;sY1260;sY1261;sY1262;sY639 CDY;CDY2;CDY2A;MGC163298;MGC163300 OTTHUMP00000038921;Y chromosome chromodomain protein 2B;chromodomain protein, Y chromosome, 2 related;testis-specific chromodomain protein Y 2;testis-specific chromodomain protein Y protein 2 related APPROVED protein-coding ENSG00000129873;ENSG00000280290 HGNC:23921 16701 REVIEWED 1345198 CDY2A chromodomain protein, Y-linked, 2A This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008] Y Y Y q11.221 10358328 10360284 - 20137667 20139626 + 18025787 18027746 + 1580863;6480464 10192397;10655032;11076863;12072557;12149400;12438810;12477932;12575791;12815422;15489334;20301513;21145461;22820855;9381176;9806824 9426 C9JMH9;Q9Y6F7 ABBA01017229;AC009976;AF080598;AK292233;NG_004636;NG_032921;NM_004825 AAD22733;AAI11920;BAF84922;NP_004816;Q9Y6F7 Hs.251375 2144755;2188869;5021738;5104946;5106039;5107373;5115904 G38355;G65845;G65871;sY1260;sY1261;sY1262;sY639 CDY;CDY2;CDY2B OTTHUMP00000038922;Y chromosome chromodomain protein 2A;chromodomain protein, Y chromosome, 2;chromodomain protein, y-linked, 2;testis-specific chromodomain protein Y 2;testis-specific chromodomain protein Y protein 2 APPROVED protein-coding ENSG00000182415;ENSG00000279820 HGNC:1810 02459 400018 REVIEWED 1346553 CDY3P chromodomain protein, Y-linked 3 pseudogene Y Y Y p11.2 237309 240108 + 9002837 9005636 - 9165228 9168027 - 12815422;9847074 286556 ABBA01031651;AC009952;NG_003131 1667237 DYF77S1 pseudo HGNC:23849 INFERRED 1348124 CDY4P chromodomain protein, Y-linked 4 pseudogene X Y Y q11.2 1906458 1909375 - 14913074 14915991 - 12801141 12804058 - 12815422 386729 ABBA01065607;AC002531;AC244213;NG_003138;NG_008311 pseudo HGNC:23872 VALIDATED 1604160 CDY5P chromodomain protein, Y-linked 5 pseudogene Y Y Y q11.222 5182111 5183690 + 19833077 19835075 + 17721197 17723195 + 12815422;9847074 378008 AC007742;NG_004636 5116232 sY2832 pseudo HGNC:23850 VALIDATED 1605212 CDY7P chromodomain protein, Y-linked 7 pseudogene Y Y Y q11.221 5411793 5412790 - 20063148 20065444 + 17951268 17953564 + 12815422;9847074 386731 AC009976;NG_004636 1790155;5116096;5116122;5116124 sY1227;sY1943;sY1959;sY1960 pseudo HGNC:23854 VALIDATED 1605213 CDY6P chromodomain protein, Y-linked 6 pseudogene Y Y q11.221 19993878 19996014 - 17881998 17884134 - 12815422;9847074 386730 AC009976;NG_004636 pseudo HGNC:23853 VALIDATED 1604157 CDY9P chromodomain protein, Y-linked 9 pseudogene Y Y Y q11.222 5182111 5183690 + 20344703 20346701 - 18182817 18184815 - 12815422;9847074 378011 AC024183;NG_004636 5116232 sY2832 pseudo HGNC:23851 VALIDATED 1605211 CDY8P chromodomain protein, Y-linked 8 pseudogene Y Y q11.221 20133753 20135889 + 18021873 18024009 + 12815422;9847074 386732 AC009976;NG_004636 pseudo HGNC:23855 VALIDATED 1606325 CDYL chromodomain protein, Y-like Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] 6 6 6 p25.1 5934977 6184408 + 4706393 4955778 + 4706159 4955544 + 6480464;8554872 10192397;10655032;12072557;12477932;12700765;12947414;15101818;16415788;16565220;17967884;18450745;19061646;19730683;19808672;21139048;21150319;21258344;21685187;21890473;21963094;22009739;22053931;23629948;23752268;24163370;24250222;24671995;24816145 9425 C9JQG7;Q9Y232 ABBA01022000;ABBA01022001;ABBA01022002;ABBA01022003;ABBA01022004;AF081258;AF081259;AK291601;AK296985;AL022725;AL050164;AL356747;AL359643;AMYH02013015;AMYH02013016;AMYH02013017;AMYH02013018;AMYH02013019;AMYH02013020;BC043397;BC061516;BC108725;BC119682;BE874176;BG766689;BQ930016;BU752976;CH471087;KF458074;KF458084;NM_001143970;NM_001143971;NM_004824;NR_026590;XM_006715272 AAD22734;AAD22735;AAH61516;AAI08726;AAI19683;BAF84290;BAG59526;CAB43304;EAW55168;NP_001137442;NP_001137443;NP_004815;Q9Y232;XP_006715335 Hs.269092 1648948;1685784;1693686;1694970;1762133;1765823;1773717;1850017;1852061;1855858;2107921;2123239;2142625;2162307;2162893;5124419 AL035376;CDYL_8937;D6S2104;D6S2182;G17019;G20517;G30950;RH16984;RH36541;RH46718;RH46857;RH80105;SHGC-146031;SHGC-149249;SHGC-58608;WI-16846 CDYL1;DKFZp586C1622;MGC131936 CDY-like, autosomal;OTTHUMP00000015984;OTTHUMP00000211185;OTTHUMP00000211186;OTTHUMP00000211189;bA620A17.2 (chromodomain protein, Y chromosome-like);chromodomain Y-like protein;chromodomain protein, Y chromosome-like, isoform b;testis-specific chromodomain Y-like protein APPROVED protein-coding ENSG00000153046 HGNC:1811 04803 603778 REVIEWED 1319946 CDYL2 chromodomain protein, Y-like 2 ENCODES a protein that exhibits catalytic activity (inferred); methylated histone binding (inferred); INVOLVED IN metabolic process (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene; 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 16 16 16 q23.2 64936574 65136540 - 80637675 80838175 - 80603778 80804278 - 6480464 12477932;12837688;14702039;17207965;17577209;19724895;19844255;19851296;20198315;20379614;23455924;23535729 124359 H3BS17;Q8N8U2 ABBA01016989;ABBA01016990;ABBA01016991;AC009070;AC092332;AC099313;AK096185;AMYH02032492;AMYH02032493;AMYH02032494;AMYH02032495;AX781670;AX781671;AY273798;BC069440;BC100803;BC100804;BC100805;BC100806;BX390259;CH471114;NM_152342 AAH69440;AAI00804;AAI00805;AAI00806;AAI00807;AAP83842;ADQ31980;BAC04720;CAE11953;CAE11965;EAW95563;NP_689555;Q8N8U2 Hs.373908 1660291;1683729;1724477;1724483;2218360;2220272 AB072781;CDYL2_4545;RH122404;RH122500;RH65219;SHGC-60787 FLJ38866;PCCP1 CDY-like 2;chromodomain Y-like protein 2;prostate cancer candidate protein 1, PCCP1 protein-coding ENSG00000166446 HGNC:23030 10819 VALIDATED 1603834 CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16 The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012] 19 19 19 q13.32 42006785 42018350 + 45202421 45213986 + 44699151 44710714 + 6480464;8699517;7240710;8554872 12477932;16139472;21368133;22544735;23565137 388551 Q2WEN9 ABBA01040880;AC092066;AC243964;AF479646;BC144608;BF589367;EU021223;NG_032692;NM_001039213 AAI56856;AAI60178;AAQ05841;ABS52739;NP_001034302;Q2WEN9 Hs.456381 1656906;1706640 SHGC-82802;STS-N39427 CEAL2;DFNA4B OTTHUMP00000200153;carcinoembryonic antigen like-2 protein;carcinoembryonic antigen-like 2 APPROVED protein-coding ENSG00000213892 HGNC:31948 614591;614614 REVIEWED 10241 CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010] 19 19 19 q13.2 39812240 39833442 - 43011458 43032661 - 42507306 42528509 - 1580863;6480464 10553088;10805733;10882072;10955775;11035932;11293162;11501563;11694516;11751883;11850617;11850628;11884449;11912215;11994468;12011132;12108545;12122002;12370272;12477932;12522268;12571236;14522961;14990688;15004154;15004155;15057824;15184366;15317738;15356119;15467833;15509546;15536067;15568039;15602572;15604255;15687237;1572649;15905509;15917161;15952183;15956076;16115956;16246332;16282604;16291724;16332726;16335952;16344560;16568082;16633066;16724098;16924126;16929097;16953805;17071610;17143599;17167768;17207965;17471435;17546042;17605118;17612570;17620353;17623671;17761831;17764466;17960155;17979980;18081725;18215438;18278069;18424730;18445773;18453603;18497748;18507857;18705345;18794798;18836450;18843289;19020551;19077207;19146852;19199708;19243897;19349857;19361387;19407471;19442569;19454653;19461083;19487071;19545674;19633846;19720754;19948502;20034698;20090913;2025273;20305326;20406467;20524097;20682994;20737948;21050451;21106423;21298042;21398516;21413011;21487066;21569294;21671129;21695697;21982860;22064717;22088515;22135912;22143889;22162753;22209504;22482415;22751559;22922158;22932077;23010737;23038226;23219815;23243275;23319418;23349235;23358633;23443559;23452434;23499736;23651919;23760586;23780386;23885995;23886200;23894299;23898208;23933369;23991977;23991991;23992005;24005674;24072270;24302721;24518592;24561123;2457922;2537311;385181;7504281;7592607;7606710;7626603;7628460;8018919;8055923;8423792;8543346;9867848 634 M0R109;M0R2K4;P13688;Q3KRG8 A43165;ABBA01040852;AC004785;AK314211;AL833584;AMYH02036153;AMYH02036154;AY766113;BC014473;BC024164;BU161659;BX485906;CH471126;D12502;D90311;D90312;D90313;DA432598;DQ989182;J03858;JA738597;JA738599;JC247477;JC247479;KF456585;M69176;M72238;M76742;M76743;M76744;NG_029051;NM_001024912;NM_001184813;NM_001184815;NM_001184816;NM_001205344;NM_001712;S71326;X14831;X16354;X16356;X67277 AAA51825;AAA51826;AAA57142;AAA57143;AAA57144;AAA58393;AAA58394;AAB31183;AAC18433;AAC18434;AAC18435;AAC18436;AAC18437;AAC18438;AAC18439;AAH14473;AAH24164;AAV34600;ABI75349;ADQ31758;BAA02063;BAA14341;BAA14342;BAA14343;CAA02704;CAA32940;CAA34404;CAA34405;CAA47694;CCF76951;CCF76952;CDM55341;CDM55342;EAW57137;EAW57138;EAW57139;EAW57140;EAW57141;EAW57142;EAW57143;NP_001020083;NP_001171742;NP_001171744;NP_001171745;NP_001192273;NP_001703;P13688 Hs.512682 1670060;1854430;2157678;2162685;2163401;2186517 D19S1014;SHGC-35228;SHGC-35229;STS-AA024986;STS-M72238;WI-17429 BGP;BGP-1;BGP1;BGPI CD66a antigen;OTTHUMP00000199069;OTTHUMP00000199189;OTTHUMP00000199190;OTTHUMP00000199193;antigen CD66;biliary glycoprotein 1;biliary glycoprotein adhesion molecule;carcinoembryonic antigen-related cell adhesion molecule 1 APPROVED protein-coding ENSG00000079385 HGNC:1814 00191 109770 REVIEWED 1642767 CEACAM18 carcinoembryonic antigen-related cell adhesion molecule 18 ASSOCIATED WITH Melanoma (inferred) 19 19 19 q13.41 49030878 49037651 + 51981897 51993859 + 51478643 51490605 + 8554872 16139472 729767 A8MTB9 ABBA01068272;ABBA01068273;ABBA01068274;AC020914;AMYH02036384;NM_001278392 A8MTB9;NP_001265321 Hs.653111 OTTHUMP00000200212 protein-coding HGNC:31949 INFERRED 1601830 CEACAM20 carcinoembryonic antigen-related cell adhesion molecule 20 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); C60 fullerene (ortholog) 19 19 19 q13.31 41814195 41837529 - 45010211 45033548 - 44506159 44529525 - 6480464 12975309;16139472;20379614;23358633 125931 A7LFK7;A7LFK8;A7LFK9;A7LFL0;Q6UY09 ABBA01040878;AC069278;AC138472;AC245748;AY358129;CH471126;EU008600;EU008601;EU008602;EU008603;NM_001102597;NM_001102598;NM_001102599;NM_001102600 AAI72298;AAQ88496;ABS57247;ABS57248;ABS57249;ABS57250;EAW57280;NP_001096067;NP_001096068;NP_001096069;NP_001096070;Q6UY09 Hs.689632 UNQ9366 GPAD9366 protein-coding ENSG00000273777 HGNC:24879 18273 VALIDATED 1605603 CEACAM21 carcinoembryonic antigen-related cell adhesion molecule 21 FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); pirinixic acid; (S)-nicotine (ortholog) 19 19 19 q13.2 38882402 38893067 + 42055886 42093255 + 41549518 41586844 + 6480464 12477932;12975309;14702039;21682944;23065704 90273 B5MCY7;Q3KPI0 ABBA01040811;AC005626;AC243960;AI565085;AK023602;AX883015;AY358084;BC012001;BC106727;BI833768;BI913326;CH471126;HG510824;NM_001098506;NM_001288773;NM_001290113;NM_033543;NR_110107;XM_005278396;XM_005278397;XM_006725394;XM_006725395;XM_006725396;XR_424988;XR_430247;XR_430808;XR_433578 AAC34569;AAH12001;AAI06728;AAQ88451;CAE91809;EAW57048;EAW57049;EAW57050;EAW57051;EAW57052;NP_001091976;NP_001275702;NP_001277042;NP_291021;Q3KPI0;XP_005278453;XP_005278454;XP_006725457;XP_006725458;XP_006725459 Hs.655885 1772064;2136005 RH47118;STS-D90276 AC006129.2;CEACAM3;FLJ13540;MGC119874;R29124_1 OTTHUMP00000199036;OTTHUMP00000199038;OTTHUMP00000199039 protein-coding ENSG00000007129 HGNC:28834 10179 VALIDATED 1601983 CEACAM19 carcinoembryonic antigen-related cell adhesion molecule 19 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; dimethyl sulfoxide 19 19 19 q13.31 41979084 41991991 + 45174724 45187631 + 44671452 44684359 + 6480464 12477932;12801635;12975309;20634891;23525470 56971 K7EK61;Q7Z692 ABBA01040880;AC092066;AC243964;AF406955;AK027157;AK128234;AK291588;AL390165;AY358394;BC083499;CH471126;NM_001127893;NM_020219;XM_006723295 AAH83499;AAP70002;AAP70003;AAQ88760;BAF84277;EAW57287;EAW57288;EAW57289;NP_001121365;NP_064604;Q7Z692;XP_006723358 Hs.416925 1656906;5020946;5022651;5037552 D11S2921;D8S2279;L17971;STS-N39427 CEAL1;MGC105097 OTTHUMP00000200169;OTTHUMP00000200170;carcinoembryonic antigen-like 1 protein-coding ENSG00000186567 HGNC:31951 16229 606691 VALIDATED 3564433 CEACAM22P carcinoembryonic antigen-related cell adhesion molecule 2, pseudogene 19 19 19 q13.31 41845042 41864301 - 45041045 45060150 - 44537058 44556917 - 20132533 388550 ABBA01040878;ABBA01040879;ABBA01040880;AC138472;AC243964;AC245748;AK123850;AK302997;NR_027754 BAG53971;BAG64132 Hs.446909 1335569;5014740;5015619;5016478;5037552 D11S3114;D17S610;D19S903;D8S2279;GDB:434012 FLJ41856 pseudo ENSG00000230666 HGNC:38029 VALIDATED 737213 CEACAM3 carcinoembryonic antigen-related cell adhesion molecule 3 This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013] 19 19 19 q13.2 39100228 39115283 + 42300522 42315591 + 41796590 41811553 + 1580863;6480464;8554872 11708798;12005421;12477932;12571236;12864848;1427854;14707113;16344560;17071045;17211733;17413979;17506820;17878338;19077207;19089662;20047061;20071292;20373053;20379614;2050678;21216968;22064717;22469950;22948154;23630956;2537643;8018919;8508798;8699114 1084 M0QXR5;P40198 ABBA01040812;AC022516;AC243967;AK298694;BC106728;CH471126;D90277;D90278;DA674909;DC428993;E03348;E03349;L00692;L00693;M22433;NM_001277163;NM_001815;NR_102333;X16454 AAA51965;AAA51969;AAA51970;AAI06729;BAA14321;BAA14322;BAH12850;CAA34473;EAW57062;EAW57063;EAW57064;EAW57065;NP_001264092;NP_001806;P40198 Hs.11 1764709;2151231;2186267 D19S1099;SHGC-148301;STS-D90277 CD66D;CEA;CGM1;MGC119875;W264;W282 CD66d antigen;OTTHUMP00000196408;OTTHUMP00000196409;carcinoembryonic antigen CGM1;carcinoembryonic antigen gene family member 1;nonspecific cross-reacting antigen APPROVED protein-coding ENSG00000170956 HGNC:1815 16450 609142 REVIEWED 1347882 CEACAM4 carcinoembryonic antigen-related cell adhesion molecule 4 FOUND IN integral component of plasma membrane (inferred); membrane (inferred); INTERACTS WITH atrazine; paracetamol; (S)-nicotine (ortholog) 19 19 19 q13.2 38925178 38933270 - 42125344 42133442 - 41618971 41627074 - 1580863;6480464 10737800;19460752;2050678 1089 M0R363;O75871 AB924369;AB924370;ABBA01040811;AC005794;AC005955;AC243960;AK298701;BF819374;BX644557;BX644579;CH471126;D90276;NM_001817;XM_005258434;XM_006722977;XM_006725392;XM_006725393 AAC62829;AAC72273;AAI72306;BAA14320;BAG60859;BAP19117;BAP19118;EAW57054;EAW57055;EAW57056;NP_001808;O75871;XP_005258491;XP_006723040;XP_006725455;XP_006725456 Hs.12 1341774;1651093;1662164;1730746;2136005;2167665 D19S197;D19S257;D19S582;G29786;RH78373;STS-D90276 CGM7;CGM7_HUMAN;NCA Nonspecific cross-reacting antigen (NCA);OTTHUMP00000199043;carcinoembryonic antigen CGM7;carcinoembryonic antigen gene family member 7;carcinoembryonic antigen-related cell adhesion molecule 4-sv1;carcinoembryonic antigen-related cell adhesion molecule 4-sv2;non-specific cross-reacting antigen W236;nonspecific cross-reacting antigen W236 protein-coding ENSG00000105352 HGNC:1816 07628 VALIDATED 1351932 CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5 Members of the CEACAM subfamily, including CEACAM5, belong to the CEA gene family. For general information on the CEA gene family, see CEACAM1 (MIM 109770).[supplied by OMIM, Oct 2009] 19 19 19 q13.1-q13.2 39012401 39034317 + 42212530 42234437 + 41708611 41730517 + 1580863;6480464;8699517;8554872 10800083;10816511;10854848;10864933;10910050;10931872;11406629;11448920;11964079;12237895;12420218;12477932;12636102;14566828;15052268;15130118;15546874;15905509;16169070;16189514;16324274;16574224;16740002;16804977;17016692;17201906;17286276;17589956;17653079;17852813;17936797;17941001;17951321;18083270;18086185;18155162;18219853;18375392;18394347;18609108;18646695;18846401;19032382;19056867;19074466;19214813;19259690;19322585;19383238;19386089;19430419;19457896;19461083;19476621;19561534;19629600;19645077;19661342;19661375;19696622;19861580;19863186;20034698;20095885;20100688;20121626;20162425;20306655;20361287;20373053;20529812;20592365;20813953;20839810;21115936;21219828;21515679;21538056;21573768;21618511;21725636;21787404;21823122;21982860;21988832;22137981;22382453;22414974;22426691;22502684;22563932;22681921;2286372;22906597;22941175;23075886;23090273;2309067;23192365;23216017;23296402;23297055;23300138;23301361;23322207;23352032;23408492;2342461;23449351;23532816;23697613;23765330;23845693;23941132;24065471;24070190;24072496;24293105;24419710;24440973;24726916;2955415;3033671;3220478;3356015;3670312;3814146;8125298 1048 M0QX98;M0R3J1;P06731;Q53G30;Q68DM9 AB852566;AB852567;ABBA01040811;AC008999;AC243967;AK223101;AK310844;BC034671;CH471126;CQ800159;CR749337;DB006625;M15042;M16234;M17191;M17303;M29540;M59255;M59710;M60964;NM_001291484;NM_004363;X16455;X62151;XM_005258413;XM_005258415 AAA51963;AAA51964;AAA51967;AAA51968;AAA51972;AAA62835;AAB59513;AAH34671;ABM81766;ABM87752;BAD96821;BAN83789;BAN83790;CAA34474;CAA44076;CAG27582;CAH18191;EAW57059;EAW57060;NP_001278413;NP_004354;P06731;XP_005258470;XP_005258472 Hs.709196 1650413;1661717;1672474;1741267;2160247;2166668;2181284;5022200;5037552 D8S2279;G10616;GDB:180250;L18426;RH46957;SGC32873;SGC35656;STS-M29540;STS-Z21818 CD66e;CEA;DKFZp781M2392 OTTHUMP00000199032;OTTHUMP00000199033;OTTHUMP00000199034;meconium antigen 100 APPROVED protein-coding HGNC:1817 00274 114890 VALIDATED 1350005 CEACAM6 carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in patients with Crohn's disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 2014] 19 19 19 q13.2 39059109 39075821 + 42259398 42276113 + 41755490 41772208 + 1580863;6480464 10666389;10737800;11095950;11896570;11994468;12005421;12477932;12571231;14512395;14724575;15081416;15130118;15208677;15316565;15340161;15489334;15826304;16115956;16344560;16740002;16899629;17167768;17201906;17286276;17503391;17525800;17653079;17909799;17960155;18223215;18331757;19077207;19329538;19411761;20047061;20063526;2022629;21470677;21559399;21618249;21832049;21982860;21994005;22037359;22064717;22396546;22975528;23021083;23027178;2332039;2341397;23592399;23603913;23806607;23857344;23941132;24014076;24045095;24186057;24231528;24303032;24326999;24492534;24655379;24697191;24735478;2612212;2830274;3128509;3220478;3337731;3527416;3619891;8018919;9266023 4680 M0QYD3;P40199 ABBA01040811;AC011513;AC243967;AK312542;BC005008;BI015601;BT009774;CH471126;CQ800161;DA442875;DA763751;JC231870;JC247485;M17082;M18216;M18728;M29541;NM_002483 AAA51739;AAA51971;AAA59907;AAA59908;AAA59909;AAA59915;AAH05008;AAP88776;BAG35441;CAG27583;CDM22277;CDM55345;EAW57061;NP_002474;P40199 Hs.466814 1742073;2161226;5125725 D19S1032;GDB:190840;RH67879 CD66c;CEAL;NCA Cluster of Differentiation 66c;OTTHUMP00000199042;carcinoembryonic antigen-related cell adhesion molecule 6;non-specific crossreacting antigen;normal cross-reacting antigen APPROVED protein-coding ENSG00000086548 HGNC:1818 01233 163980 REVIEWED 1348231 CEACAM7 carcinoembryonic antigen-related cell adhesion molecule 7 FOUND IN anchored component of membrane (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (S)-nicotine (ortholog); 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 19 19 19 q13.2 38977060 38991921 - 42177235 42192196 - 41673307 41688271 - 1580863;6480464 10436421;10666389;12477932;1427854;15057824;15340161;15489334;16627067;20004437;21982860;22195770;2537643;7806520;9135022;9533775 1087 B4DKM4;Q14002 ABBA01040811;AC005797;AC243960;AC243967;AF006622;AF006623;AK292213;AK296634;AK311285;AK313108;BC121132;CH471126;DC345133;L31792;M22434;NM_001291485;NM_006890;U04349;X98311;XM_005258430;XM_005278379 AAA03663;AAA51966;AAA66186;AAB62924;AAB62925;AAC62825;AAC62826;AAI21133;BAF84902;BAG35930;BAG59236;CAA66955;EAW57057;EAW57058;NP_001278414;NP_008821;Q14002;XP_005258487;XP_005278436 Hs.74466 2126446;2218362 CEACAM7_4185;RH47047 CEA;CGM2 OTTHUMP00000199040;OTTHUMP00000199041;carcinoembryonic antigen CGM2;carcinoembryonic antigen gene family member 2 protein-coding ENSG00000007306 HGNC:1819 07629 VALIDATED 1343324 CEACAM8 carcinoembryonic antigen-related cell adhesion molecule 8 INVOLVED IN immune response (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH ceric oxide; titanium dioxide; vanadium atom 19 19 19 q13.2 39885179 39899866 - 43084393 43099082 - 42580241 42594930 - 1580863;6480464;8554872 10520185;11095950;11994468;12379336;12477932;1427854;15057824;15489334;16344560;16740002;17167768;17909799;18056392;19077207;2022629;21470677;21982860;2208113;2306228;23686079;9427723 1088 B4DLI3;M0R1X3;P31997;Q0Z7S6 ABBA01040852;AC004558;AK297012;AK312652;AMYH02036155;AMYH02036156;BC026263;CH471126;D90064;DA464901;DQ822518;M33326;NM_001816;X52378;XM_005258432;XM_005258433;Z95119 AAA59914;AAC13659;AAH26263;ABG46943;ABM82897;ABM86087;BAA14108;BAG35535;BAG59545;CAA36604;CAB08298;EAW57144;NP_001807;P31997;XP_005258489;XP_005258490 Hs.41 1858362;5014051;5015619;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;RH78372 CD66b;CD67;CGM6;NCA-95 CD67 antigen;OTTHUMP00000199199;carcinoembryonic antigen CGM6;carcinoembryonic antigen gene family member 6;non-specific cross-reacting antigen NCA-95 protein-coding ENSG00000124469 HGNC:1820 07630 615747 VALIDATED 1351375 CEACAMP10 carcinoembryonic antigen-related cell adhesion molecule pseudogene 10 19 19 19 q13.2 40524670 40525581 - 43724140 43725051 - 43219988 43220899 - 7851895;7851896 1098 ABBA01040855;AC005392;AMYH02036160;NG_001104;U06678 CEACAM31P;CGM17 pseudo HGNC:1822 INFERRED 1342833 CEACAMP11 carcinoembryonic antigen-related cell adhesion molecule pseudogene 11 19 19 19 q13.2 40588129 40589039 - 43787588 43788498 - 43283436 43284346 - 7851895;7851896 1086 ABBA01040855;AC005392;AMYH02036160;NG_001095;U06679 CEACAM32P;CGM18 pseudo HGNC:1823 INFERRED 1349291 CEACAMP1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 1 19 19 19 q13.2 39937533 39938072 - 43124325 43137288 - 42620173 42633136 - 1427854;1572649 1090 ABBA01040852;ABBA01040853;AC004558;AMYH02036156;M80575;M96921;NG_001096 CEACAM22P;CGM8 pseudo HGNC:1821 INFERRED 1352759 CEACAMP2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 2 19 19 19 q13.2 39865403 39865691 - 43064619 43064907 - 42560467 42560755 - 1427854 1091 ABBA01040852;AC004559;AMYH02036155;M96922;NG_001097 CEACAM23P;CGM9 pseudo HGNC:1824 INFERRED 1354278 CEACAMP3 carcinoembryonic antigen-related cell adhesion molecule pseudogene 3 19 19 19 q13.2 38907481 38907728 + 42107611 42107858 + 41601256 41601503 + 1427854;7851895;7851896 1092 ABBA01040811;AC005955;AC243960;M96923;NG_001098 CEACAM24P;CGM10 pseudo HGNC:1825 INFERRED 1347337 CEACAMP5 carcinoembryonic antigen-related cell adhesion molecule pseudogene 5 19 19 19 q13.2 39959088 39967953 + 43158304 43167169 + 42654152 42663017 + 7851895;7851896 1085 ABBA01040854;AC004558;AC005204;AMYH02036156;NG_001094;U06672;U06673 1777433 STS-U06673 CEACAM26P;CGM12 pseudo HGNC:1827 INFERRED 1350826 CEACAMP4 carcinoembryonic antigen-related cell adhesion molecule pseudogene 4 19 19 19 q13.2 40607903 40608199 - 43807354 43807650 - 43303202 43303498 - 1427854;7851895;7851896 1093 ABBA01040855;AC005392;AMYH02036160;M96924;NG_001099 1340469;1779262;1783214 D19S420;SHGC-151143;SHGC-152201 CEACAM25P;CGM11 pseudo HGNC:1826 INFERRED 1343987 CEACAMP6 carcinoembryonic antigen-related cell adhesion molecule pseudogene 6 19 19 19 q13.2 40090188 40091098 - 43289863 43290773 - 42785711 42786621 - 7851895;7851896 1094 ABBA01040855;AC004610;AMYH02036158;NG_001100;U06674 CEACAM27P;CGM13 pseudo HGNC:1828 INFERRED 1352963 CEACAMP7 carcinoembryonic antigen-related cell adhesion molecule pseudogene 7 19 19 19 q13.2 40254160 40255072 - 43453655 43454567 - 42949503 42950415 - 7851895;7851896 1095 ABBA01040855;AC004679;AMYH02036158;NG_001101;U06675 CEACAM28P;CGM14 pseudo HGNC:1829 INFERRED 1346052 CEACAMP9 carcinoembryonic antigen-related cell adhesion molecule pseudogene 9 19 19 19 q13.2 40401101 40402012 - 43600601 43601512 - 43096449 43097360 - 7851895;7851896 1097 ABBA01040855;AC005791;AC024077;AMYH02036159;NG_001103;U06677 CEACAM30P;CGM16 pseudo HGNC:1831 INFERRED 1349495 CEACAMP8 carcinoembryonic antigen-related cell adhesion molecule pseudogene 8 19 19 19 q13.2 40345030 40345930 - 43544526 43545426 - 43040374 43041274 - 24312300;7851895;7851896 1096 ABBA01040855;AC004784;AMYH02036158;NG_001102;U06676 CEACAM29P;CGM15 pseudo HGNC:1830 INFERRED 2303684 CEBPA-AS1 CEBPA antisense RNA 1 (head to head) 19 19 19 q13.11 30487328 30489528 + 33793763 33795963 + 33302857 33305057 + 12477932;14702039 80054 ABBA01012596;AC008738;AK022417;AL522369;AMYH02035938;BC027959;BC113872;BC114482;NG_012022;NR_026887 BAB14032 Hs.287521 1778477;2131621;5021953;5493627 Cebpa;SHGC-35476;STS-X87248;UniSTS:489947 FLJ12355 APPROVED ncrna ENSG00000267296 HGNC:25710 07766 VALIDATED 69121 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013] 19 19 19 q13.1 30484405 30486995 - 33790840 33793430 - 33299934 33302564 - 704404;1625368;1580863;704418;6480464;6484113;6907045;7240710;8554872;8699517 12865412;16172914 10022857;10078198;10082561;10470496;10567568;10725330;10921906;11242107;11283671;11302752;11340085;11684017;11809705;11818365;11830484;11867521;11893744;11912209;11978795;11997389;12011976;12036869;12069855;12080077;12091339;12145325;12242300;12351377;12393450;12410800;12441050;12477932;12493739;12509469;12511558;12522000;12522006;12524424;12554785;12571239;12592334;12594283;12661007;12668682;12692227;12692518;12695546;12730330;12757710;12825852;12855590;12857754;12861022;12869508;12873812;12915572;12925529;12970736;1427819;14517214;14627805;14656889;14701740;14726504;14734562;14737106;14766209;15078966;15150264;15326310;15340105;1535333;15479564;15572670;15575056;15588942;15604894;1563207;15664994;15674366;15684384;15713621;15746035;15777798;15855281;15867211;15919796;15928042;16046528;16076867;16226872;16325577;16357103;1638120;16452305;16455947;16490787;16537832;16582099;16644732;16788101;16858416;16870193;16873674;16880509;16893891;16983342;17063141;17082780;17098861;17188819;17190859;17203171;17347301;17372916;17431401;17475913;17504763;17554374;17637739;17671232;17671233;17671234;17851556;17855628;17894555;17989362;18024476;18182175;18239623;18263877;18302931;18308386;18313667;1840554;18414493;18450602;18451139;18481268;18524846;18559874;18587575;18616509;18660489;18663475;18729193;18757096;18765514;18768433;18776924;18786141;18809607;18817785;18931025;18946494;18949049;19020539;19035457;19054766;19059241;19059939;19089912;19121862;19126543;19171880;19221039;19228936;19277035;19289855;19304957;19322201;19347879;19351817;19371798;19453261;19471022;19523687;19536888;19561324;19583951;19584269;19623175;19631360;19644139;19651529;19659458;19662097;19672300;19706798;19731081;19797526;19811452;19901962;19953636;19965647;20018373;20032083;20038735;20075868;20101026;20137111;20157332;20306678;20336759;20347819;20368469;20368538;20371743;20378774;20385772;20398657;20421268;20422469;20439648;20456351;20460359;20492756;20495894;20510075;20513120;20534483;20536385;20622021;20625112;20628397;20659895;20671051;20723288;20726009;20817090;20884804;20888888;20889924;20927134;20963938;20970189;21038412;21109558;21134981;21177436;21326902;21345218;21346772;21362229;21389317;21399661;21402921;21403128;21410980;21503969;21538063;21619898;21674360;21693764;21734268;21737519;21869759;21880716;21890473;21988832;22013073;22170698;22184113;22212957;22249251;22260161;22269963;22349414;22355045;22362118;22389883;22391813;22398723;22442349;22456356;22474248;22649106;22689263;22731647;22851180;22869521;22981865;22990006;23086932;23100311;23233059;23239344;23252456;23340802;23383108;23383300;23437297;23473759;23521373;23541085;23590662;23598402;23661758;23666693;23673926;23716546;23769673;23814099;23816696;23833041;23884858;23898169;23932747;23974200;24033149;24038216;24054719;24056881;24076158;24107992;24183681;24244375;24284203;24359396;24379003;24516045;24569775;24580717;24584857;24658403;24703161;7575576;7652557;7838705;8288579;8367486;8415748;8499951;8643605;8758458;8798745;9139739;9191024;9372966;9545285;9614188;9817600;9915821 1050 P49715;Q6P3S4 ABBA01012597;ABBA01012598;AC008738;AMYH02035938;BC027902;BC063874;EU048234;NG_012022;NM_001285829;NM_001287424;NM_001287435;NM_004364;U34070;X87248;Y11525 AAC50235;AAH27902;AAH63874;AAI60133;ABS82765;CAA60698;CAA72289;NP_001272758;NP_001274353;NP_001274364;NP_004355;P49715 Hs.76171 1653341;1778477;1795554;2131621;2133256;2148158;2187000;5021953;5492563;5493387 A002S24;CEBPA_537;Cebpa;RH64933;SHGC-35476;STS-T52003;STS-X87248;UniSTS:481683;UniSTS:485918;WI-16546 C/EBP-alpha;CEBP CCAAT/enhancer-binding protein alpha;OTTHUMP00000220269;c/EBP alpha;ccaat/enhancer binding protein, alpha APPROVED protein-coding ENSG00000245848 HGNC:1833 00296 116897;601626 REVIEWED 8699406 CEBPB-AS1 CEBPB antisense RNA 1 20 20 q13.13 48801146 48805093 - 50184609 50188583 - 16344560 101927559 ABBA01052774;AK129842;AL161937;AMYH02037232;BX463443;DA253693;LK937944;NR_125739;XR_244191;XR_248950;XR_253985;XR_425251;XR_430327;XR_433620 Hs.442486;Hs.651819;Hs.741084 ncrna HGNC:51226 VALIDATED 736208 CEBPB CCAAT/enhancer binding protein (C/EBP), beta This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions. [provided by RefSeq, Oct 2013] 20 20 20 q13.1 45511633 45513469 + 48807120 48809227 + 50190583 50192690 + 1300293;1300295;1300294;1580863;625506;6480464;6484113;6907045 10747954;11313242;11792653;9727068 10022857;10196196;10318842;10619021;10635333;10775602;10821850;10921906;11018027;11024029;11158330;11257229;11452034;11466389;11500490;11580138;11596110;11668178;11684016;11726507;11741938;11748221;11751971;11756662;11780052;11792321;11801594;11825899;11893744;11997389;12036869;12071851;12095417;12151100;12161447;12167619;12177065;12202226;12202480;12213825;12242300;12367750;12393563;12410800;12441050;12477932;12479114;12482935;12493739;12496392;12505790;12524424;12574125;12618752;12631601;12665574;12670924;12692227;12706815;12707271;12748173;12773552;12810706;12821655;12825852;12847250;12857754;12873812;12900520;12947119;12970736;1314426;1427819;14530280;14630807;14645007;14670999;14688407;14728809;14729647;14759369;14976428;15044620;15082764;15102854;1518839;15308669;1535333;15381907;15385533;1547942;15489334;15498874;15561713;15688424;15710476;15762841;15775988;15777639;15777798;15778453;15785238;15870285;15878863;15879117;16009338;16026328;16227626;16303757;16307770;16318580;1638120;16399783;16418324;16453302;16458921;16465418;16511829;16563127;16608438;16651265;16709933;16785565;16820889;16959612;17031851;17111047;17203171;17251582;17257825;17301242;17303761;17335903;17351148;17387179;1741402;17504763;17513780;17540774;17570496;17583490;17596295;17616429;17620318;17652082;17675296;17705277;17724128;17785586;17921324;17928076;17989362;18025168;18182446;18198130;18203738;18294142;18310298;18339625;1840554;18512730;18628207;18647749;18660489;18682709;18703796;18786141;18809921;1884998;18852215;19014341;19029947;19043455;19064995;19088256;19109189;19116245;19126543;19133313;19169276;19222842;19248099;19322201;19324970;19335620;1934061;19453261;19471022;19487031;19489038;19523687;19592659;19632992;19641492;19652226;19690170;19717648;19723873;19733238;19734226;19747512;19806478;19811452;19903813;19962993;20004457;20015877;20032975;20099975;20110283;20111005;20145198;20194620;20209087;20224108;20225273;20336759;20351173;20385540;20452968;20460359;20562859;20583135;20605485;20638476;20690902;20699097;20702408;20726009;20797423;20818427;20829347;20948428;20970301;21048943;21098707;2112087;21145827;21150337;21183071;21283634;21302301;21303932;21308746;21326902;21343335;21344389;21345218;21389327;21447826;21471847;21545825;21558273;21595849;21612443;21612582;21638299;21689417;21693764;21804532;21852335;21854628;21883217;21899882;21917825;21963094;21980398;21998664;22013073;22080951;22095691;22152057;22242598;22260630;22374303;22379085;22422068;22538425;2253878;22689263;22728165;22763786;22818222;22860016;22911498;22921787;22955269;23000965;23097472;23128233;23314288;23560079;23711709;23741337;23770848;23782703;23915234;23955082;23955085;23966000;24043631;24086495;24086653;24128855;24191285;24222641;24248464;24265756;24284203;24379003;24472318;24589738;24635384;24912680;7594592;7635140;7651415;7838705;8040336;8113688;8384717;8552662;8622667;8662954;8855267;8972203;9032301;9139739;9169458;9343424;9495318;9506442;9545285;9553145;9570146;9614188;9712049;9742105;9817600;9885903 1051 P17676;Q9BSC0 ABBA01052774;ABBA01052775;AF289608;AK291536;AL161937;AMYH02037232;AW025406;AY193834;BC005132;BC007538;BC021931;BU753628;CH471077;D63161;DB457615;M98056;NG_029019;NM_001285878;NM_001285879;NM_005194;X52560 AAH05132;AAH07538;AAH21931;AAL55792;AAN86350;ACE87071;ACE87752;BAA09637;BAF84225;CAA36794;EAW75629;NP_001272807;NP_001272808;NP_005185;P17676 Hs.517106;Hs.719041;Hs.720603 1648802;1668415;5022070 D20S728;RH17476;STS-H26183 C/EBP-beta;CRP2;IL6DBP;LAP;LIP;MGC32080;NF-IL6;TCF-5;TCF5;c/EBP beta CCAAT/enhancer-binding protein beta;OTTHUMP00000031262;interleukin 6-dependent DNA-binding protein;liver activator protein;liver-enriched inhibitory protein;liver-enriched transcriptional activator protein;nuclear factor NF-IL6;nuclear factor of interleukin 6;transcription factor 5 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;1643376;1643383;1643385;1643396;2289429;2289431;2316046 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;BW305_H;BW306_H;BW311_H;BW312_H;GLUCO192_H APPROVED protein-coding ENSG00000172216 HGNC:1834 01801 189965 REVIEWED 733093 CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 3449221 3451180 - 23586515 23588820 - 23117306 23119611 - 1580863;1300295;6480464;7240710;8699517;8554872 11313242 10233885;10359588;11753076;11861297;12036869;12161447;12202480;12393450;12477932;12515729;12522000;12571239;12805554;12947005;15308577;15489334;15588942;1638120;16788101;16918696;17042743;17244686;17255362;17347301;17483073;17562868;17688422;18029348;18776924;18832658;1884998;19109189;19684604;20042726;20211142;20661648;21988832;22137487;22939624;23016962;23333304;23512250;23608171;23661758;23719191;23836053;23996088;24379003;24398327;24497567;8661101;9032264;9177240 1053 Q15744 ABBA01061308;AL117258;AMYH02028865;BC035797;BG387972;BX346756;BY995857;CH471078;NG_009617;NM_001805;U48865;U48866;U80982 AAC50708;AAC50709;AAC51130;AAH35797;ABZ92382;ACE86633;ACE87315;EAW66183;NP_001796;Q15744 Hs.558308 1334756;1682636 D14S990;RH75880 C/EBP-epsilon;CRP1 CCAAT/enhancer-binding protein epsilon;OTTHUMP00000164547;c/EBP epsilon APPROVED protein-coding ENSG00000092067 HGNC:1836 02852 245480;600749 REVIEWED 736554 CEBPD CCAAT/enhancer binding protein (C/EBP), delta The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. The cytogenetic location of this locus has been reported as both 8p11 and 8q11. [provided by RefSeq, Sep 2010] 8 8 8 p11.2-p11.1 44634626 44635876 - 48649476 48650726 - 47736914 47738164 - 1298752;1580863;625506;6480464;6484113 11792653;1884998 11741938;11851384;12177065;12477932;12524424;12554732;12825852;12857754;12937035;15212823;15389878;15389879;15486993;15588942;15674331;15718495;15901830;16195339;16322893;1638120;16397300;16914534;16997058;17098861;17234736;17373909;1741402;17562792;17903252;17910034;18370833;1840554;18477566;18619497;18660489;18753137;19471022;19800021;19806320;19811452;20385105;20460359;20467438;20805509;20829351;20971808;21072181;21076392;21112127;21612582;21666710;21693764;21980073;22037769;22347430;23028973;23575666;23603433;23861541;23993701;24128855;24155666;7594592;7789168;8314590;8946919;9570146 1052 P49716;Q504X4 ABBA01041637;AC023991;AMYH02017943;BC094715;BC105109;BQ773696;CH471068;M83667;NM_005195;S63168 AAA59927;AAB27293;AAH94715;AAI05110;ACE86489;ACE87170;EAW86679;NP_005186;P49716 Hs.440829 1684347;2113128;2154196;5493113 D8S2307;RH70217;RH79863;UniSTS:484347 C/EBP-delta;CELF;CRP3;NF-IL6-beta CCAAT/enhancer-binding protein delta;OTTHUMP00000221850;c/EBP delta;ccaat/enhancerbinding, protein (c/ebp) delta;nuclear factor NF-IL6-beta APPROVED protein-coding HGNC:1835 00297 116898 REVIEWED 735927 CEBPG CCAAT/enhancer binding protein (C/EBP), gamma The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2011] 19 19 19 q13.11 30558181 30567164 + 33864575 33873592 + 33373669 33382686 + 1298752;1580863;6480464;6907045 1884998 12177065;12477932;12618752;12757710;12805554;1371974;1377818;15146197;15489334;15588942;16189514;16255782;1709121;17893230;18029348;19322201;20237496;21890473;21906983;22437320;23000965;23128233;23160200;23661758;23775115;24244375;7501458;7665092;8089482;8628277 1054 P53567 ABBA01012594;AC008744;AK313634;AMYH02035938;BC007582;BC013128;BT019819;BT019820;CB993585;CN353219;NM_001252296;NM_001806;U20240 AAC50201;AAH07582;AAH13128;AAV38622;AAV38623;ABM87454;ABW03893;BAG36393;NP_001239225;NP_001797;P53567 Hs.429666 1656487;1672551;1688450;1734698;1769273;1779070;1795556;2114843;2129552;2161216;2173694 A008N41;CEBPG_539;D19S1116;D19S658E;D19S695E;D19S722;RH18013;RH79127;RH91734;SHGC-35371;STS-T83376 GPE1BP;IG/EBP-1 CCAAT/enhancer-binding protein gamma;c/EBP gamma APPROVED protein-coding ENSG00000153879 HGNC:1837 00738 138972 REVIEWED 1312755 CEBPZ CCAAT/enhancer binding protein (C/EBP), zeta ENCODES a protein that exhibits poly(A) RNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 2 2 2 p22.2 37269769 37299695 - 37428772 37458740 - 37201629 37231597 - 1580863;6480464;8554872 11306579;11592063;11790298;12446671;12477932;12534345;15489334;15635413;15815621;16331558;16565220;17081983;19471022;20211142;20810990;21106240;21139048;21890473;21900206;21906983;22139845;22178446;2247079;22586326;23752268;23974872;24457600;24778252;24816145;8604343 10153 C9J9W7;Q03701 ABBA01074978;AC007390;AK312322;AMYH02003615;BC034475;CH471053;M37197;NM_005760 AAA51924;AAH34475;AAY14815;BAG35244;EAX00403;NP_005751;Q03701 Hs.135406 1739237;2119252;2125961;2153218;2176010;2187552;5491503 D2S1925;MARC_16193-16194:1033403679:1;RH70014;RH70208;SHGC-32572;SHGC-35993;SHGC-56390 CBF;CBF2;HSP-CBF;NOC1 CCAAT-binding factor;CCAAT-box-binding transcription factor;CCAAT/enhancer binding protein zeta;CCAAT/enhancer-binding protein zeta;OTTHUMP00000126952 protein-coding ENSG00000115816 HGNC:24218 09875 612828 VALIDATED 1347678 CECR cat eye syndrome chromosome region 7240710 1055 HGNC:1838 7380495 CEBPZOS CEBPZ opposite strand 2 2 2 p22 37264602 37272924 + 37423635 37431886 + 37196492 37204743 + 12477932;14702039 100505876 A8MTT3 ABBA01074978;AC007390;AK001814;AMYH02003615;BC051746;BC065768;NR_037879;NR_037880 Hs.743972 CEBPZ-AS1 APPROVED ncrna ENSG00000218739 HGNC:49288 VALIDATED 1353390 CECR1 cat eye syndrome chromosome region, candidate 1 This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 22 22 22 q11.2 1281480 1312039 - 17659681 17702744 - 17178790 17221854 - 1580863;6480464;8699517;7240710;8554872 10756095;11311551;11381032;12477932;14702039;15461802;15489334;15926889;16159877;16303743;16344560;18029348;20147294;20379614;20453107;22558798;23685153;23747353;23796864;24552284;24552285 51816 B4E3Q4;C9IZA8;F5H7J3;Q9NZK5 AB209648;ABBA01001455;ABBA01001456;AC005300;AC005399;AF190746;AI523928;AK027682;AK074702;AK130725;AK292689;AK295174;AK304818;AK314321;AMYH02037988;AMYH02037989;AMYH02037990;AMYH02037991;AMYH02037992;BC051755;BX111961;CD369524;CH471193;CR456417;DA864284;DB130953;DB286859;DC391616;NG_033943;NM_001282225;NM_001282226;NM_001282227;NM_001282228;NM_001282229;NM_177405;XM_006724080 AAF65941;AAH51755;ABZ92046;BAB55293;BAC11148;BAD92885;BAF85378;BAG36969;BAG58184;BAG65566;CAG30303;CAK54409;CAK54708;EAW57750;EAW57751;NP_001269154;NP_001269155;NP_001269156;NP_001269157;NP_001269158;NP_803124;Q9NZK5;XP_006724143 Hs.170310;Hs.637274 1852184;5015861;7185938 D10S16;STS-R50108 ADA2;ADGF;IDGFL;PAN;SNEDS OTTHUMP00000028854;OTTHUMP00000196142;OTTHUMP00000196143;OTTHUMP00000196144;adenosine deaminase 2;adenosine deaminase CECR1;cat eye syndrome critical region protein 1 APPROVED protein-coding ENSG00000093072 HGNC:1839 10462 182410;607575;615688 REVIEWED 1350048 CECR2 cat eye syndrome chromosome region, candidate 2 This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 22 22 22 q11.2 1579045 1656270 + 17956630 18033845 + 17369730 17558147 + 1580863;6480464;8554872 11214970;11381032;11827465;12762840;14702039;15640247;20379614;21139048;21810179;22154806;22395867;22623531;22699752;23112755 27443 B7WPH3;H0Y2Z1;H7BXW8;Q9BXF3 AB051527;ABBA01001445;ABBA01001446;ABBA01001447;ABBA01001448;ABBA01001449;AC004019;AC007666;AF336133;AF411609;AK055696;AK091754;AK308330;AL832377;AMYH02037999;AMYH02038000;AMYH02038001;AMYH02038002;AMYH02038003;BX647449;FO681548;NG_033989;NM_001290046;NM_001290047;NM_031413;XM_006724077;XM_006724078;XM_006724079 AAI66664;AAK15343;AAL07393;BAB21831;CAH56122;CAH56212;NP_001276975;NP_001276976;NP_113601;Q9BXF3;XP_006724140;XP_006724141;XP_006724142 Hs.231895;Hs.658723 1339581;1644269;1681078;1688046;1713221;1729183;1751171;1751629;2117185;2150173;5024543;7186525 D1S3690;D22S137;D22S420;G18171;RH120398;RH1699;RH65881;RH98562;SHGC-105082;SHGC-105575;SHGC-60699 AC004019.18;KIAA1740 OTTHUMP00000196153;OTTHUMP00000196214;cat eye syndrome critical region protein 2 protein-coding ENSG00000099954 HGNC:1840 607576 REVIEWED 1315242 CECR5 cat eye syndrome chromosome region, candidate 5 FOUND IN mitochondrion (inferred); INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate; paracetamol 22 22 22 1240395 1267478 - 17618410 17646177 - 17137510 17165287 - 1580863;6480464 11381032;12477932;14702039;15489334;15862967;18029348;20186120;20877624;21139048;21906983;24654937;24816145 27440 A8MYZ9;Q9BXW7 ABBA01001456;ABBA01001457;AC006946;AF273270;AF273271;AK000461;AK001034;AK123646;AK315156;AL833450;AMYH02037987;AMYH02037988;BC042540;BF515203;BM558767;CH471193;NM_017829;NM_033070;XM_005261236;XM_005261237 AAH42540;AAK19151;AAK19152;BAA91180;BAA91475;BAG37602;BAG53930;EAW57747;EAW57748;NP_060299;NP_149061;Q9BXW7;XP_005261293;XP_005261294 Hs.26890 1643646;1680056;1698154 D22S969E;RH102610;RH80488 OTTHUMP00000196150;OTTHUMP00000196151;cat eye syndrome critical region protein 5 protein-coding ENSG00000069998 HGNC:1843 16703 VALIDATED 1346490 CECR3 cat eye syndrome chromosome region, candidate 3 (non-protein coding) 22 22 17737749 17747623 - 17256859 17266733 - 11381032 27442 ABBA01001453;ABBA01001454;AC005399;AF277398;AMYH02037993;LN608892;NR_038398 Hs.517394 APPROVED ncrna ENSG00000241832 HGNC:1841 VALIDATED 1344655 CECR5-AS1 CECR5 antisense RNA 1 22 22 22 q11.1 1261583 1267636 + 17640279 17646335 + 17159389 17165445 + 11381032 100130717 ABBA01001456;AC006946;AF307448;AMYH02037988;AW293178;BI962745;NR_024482;NR_024483 AAK30048 Hs.660066 1698154 RH102610 CECR4;NCRNA00017 APPROVED ncrna ENSG00000185837 HGNC:1842 VALIDATED 1350853 CECR7 cat eye syndrome chromosome region, candidate 7 (non-protein coding) 22 22 22 q11.1 1139734 1161961 + 17517460 17539682 + 17036570 17058792 + 11381032;12477932;12483300;14702039 100130418 ABBA01001459;ABBA01001460;AC006946;AK098045;AMYH02037984;AY026052;BC043198;HG511970;HG511971;HG511972;NR_015352 Hs.660640 1736784 D22S1037 FLJ40726;SAHL1 ncrna ENSG00000237438 HGNC:1845 PREDICTED 1349309 CECR9 cat eye syndrome chromosome region, candidate 9 FOUND IN extracellular region (inferred) 11381032 30847 P0C854 AF307449 Hs.542791 protein-coding HGNC:1847 1349802 CECR6 cat eye syndrome chromosome region, candidate 6 INTERACTS WITH 17beta-estradiol; 3,3'-diindolylmethane; arsenite(3-) 22 22 22 1219483 1224551 - 17597189 17602257 - 17116299 17121367 - 6480464 11381032;14702039;15146197;16344560;19336002;20237496 27439 Q9BXQ6 ABBA01001458;ABBA01001459;AC006946;AF307451;AK055398;AK095437;AK095609;AMYH02037986;BG472529;BQ006940;CH471193;CN365831;DA814825;NM_001163079;NM_031890 AAK30049;EAW57744;NP_001156551;NP_114096;Q9BXQ6 Hs.209577 2109125;2154544 CECR6_9556;RH77980 OTTHUMP00000028726;OTTHUMP00000196141;cat eye syndrome critical region protein 6 protein-coding ENSG00000183307 HGNC:1844 16704 VALIDATED 737498 CEL carboxyl ester lipase The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 106479095 106504472 + 135936741 135947250 + 133061978 133071863 + 1300048;1580863;2313965;2313969;2313967;2313964;2313971;6480464;7240710;8554872;8699517 10580419;16369531;17259390;8446851;9536927 10024660;11045623;11148205;11563913;11733511;11834744;11945176;12031288;12110666;12166660;12477932;12721789;12821548;12853459;15114370;15841033;16266293;1627550;1639390;16502470;1676983;1698625;17005819;18029348;18037996;18544793;1854805;18803939;19760265;1988041;19913121;1991511;19948975;20628086;2066663;21346236;21386960;21784842;21865348;21988832;22412885;2265692;22956586;2318975;23395566;23770712;24062244;24624459;2600091;3995055;7350912;7350913;7514266;7578248;7588748;7654718;7691717;7768954;8424803;8601635;8639615;9244386;9353334;9404644;9445398;9530636;9774442;9813053 1056 B4DSX9;O75612;P19835;Q86SR3;X6R868 ABBA01032473;ABBA01032474;AF072711;AF081673;AK299965;AL162417;AMYH02021822;BC042510;BE045879;CH471090;CS180412;M85201;M94579;NG_016394;NM_001807;S40178;S70517;S79774;X54457 AAA51973;AAA52014;AAB22537;AAB35488;AAC26514;AAC71012;AAH42510;BAG61791;CAA38325;CAJ40733;EAW88030;EAW88031;EAW88032;EAW88033;NP_001798;P19835 Hs.533258 1680980 RH79630 BAL;BSDL;BSSL;CELL;FAP;FAPP;LIPA;MODY8 CEase;OTTHUMP00000022450;bile salt-activated lipase;bile salt-dependent lipase, oncofetal isoform;bile-salt-activated lipase;bucelipase;carboxyl ester hydrolase;carboxyl ester lipase (bile salt-stimulated lipase);cholesterol esterase;fetoacinar pancreatic protein;lysophospholipase, pancreatic;pancreatic lysophospholipase;sterol esterase APPROVED protein-coding ENSG00000170835 HGNC:1848 07509 114840;609812 REVIEWED 736392 CELA1 chymotrypsin-like elastase family, member 1 Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009] 12 12 12 q13 50523712 50541944 - 51722227 51740463 - 51328443 51346679 - 1580863;6480464 10620133;1079736;12477932;15489334;1633328;19913121;20174665;20346360;20379614;20628086;23251661;23395568;3648024;6153632;6191979;8575772;8794736;8864963;9111002;9175736 1990 Q14237;Q9UNI1 ABBA01031611;AC046135;AF120493;AMYH02026485;AY740424;BC069454;BC075091;CH471111;D00159;NM_001971;X05293;X62258 AAD28441;AAH69454;AAH75091;AAV88109;BAA00117;CAA28916;EAW58189;NP_001962;Q9UNI1 Hs.348395 1736868 D12S1273 ELA1 OTTHUMP00000236087;chymotrypsin-like elastase family member 1;elastase 1, pancreatic;elastase-1;pancreatic elastase 1 APPROVED protein-coding ENSG00000139610 HGNC:3308 00553 130120 REVIEWED 1602468 CELA2A chymotrypsin-like elastase family, member 2A Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, May 2009] 1 1 1 p36.21 14266097 14281458 + 15783223 15798586 + 15456728 15472091 + 6480464;8554872 11729383;12477932;14702039;15342556;15489334;16247445;16327289;16710414;17207965;19913121;20628086;20932654;2307232;2834346;3427074;3646943 63036 P08217 ABBA01004711;AK056678;AK312198;AL512883;AMYH02000360;BC007031;BC069331;BC069432;BP324428;BQ787677;CH471167;CR450291;D00236;M16631;M16652;NM_033440 AAA52374;AAA52380;AAH07031;AAH69331;AAH69432;ADQ32929;BAA00165;BAG35131;BAG51782;CAG29287;EAW51727;NP_254275;P08217 Hs.631866 1848686;2124737;5091040 RH67819;RH71372;SHGC-36104 ELA2A;PE-1 OTTHUMP00000002326;chymotrypsin-like elastase family member 2A;elastase 2A;elastase-2A;pancreatic elastase 2;pancreatic elastase IIA APPROVED protein-coding ENSG00000142615 HGNC:24609 06495 609443 REVIEWED 1606295 CELA2B chymotrypsin-like elastase family, member 2B Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2B is secreted from the pancreas as a zymogen. In other species, elastase 2B has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, Jul 2008] 1 1 1 p36.21 14285468 14300765 + 15802596 15817895 + 15476101 15491400 + 6480464 12477932;15489334;16327289;17192395;17207965;19773279;3427074;3646943 51032 P08218;Q5JRU4;Q6ISP9 ABBA01004708;ABBA01004709;ABBA01004710;ABBA01004711;AL512883;AMYH02000361;BC069412;BC069455;BC113540;BC113542;BC171735;BU070386;CH471167;M16653;NM_015849 AAA52381;AAH69412;AAH69455;AAI13541;AAI13543;ADQ32917;ADR82901;EAW51728;NP_056933;P08218 Hs.631871 1790335;1848686;2124737 ELA1;RH67819;SHGC-36104 ELA2B;MGC142100;MGC142102;MGC97052;RP11-265F14.2 OTTHUMP00000002327;chymotrypsin-like elastase family member 2B;elastase 2B;elastase-2B;pancreatic elastase IIB (ELA2B) APPROVED protein-coding ENSG00000215704 HGNC:29995 06496 609444 REVIEWED 1346009 CELA3A chymotrypsin-like elastase family, member 3A Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues. Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. [provided by RefSeq, Jul 2008] 1 1 1 p36.12 20651145 20662036 + 22328149 22339035 + 22001656 22012542 + 1580863;6480464 12373299;12477932;15489334;2460440;2826474;8125298 10136 B1AQ52;B1AQ54;B1AQ55;P09093 ABBA01059840;AK225620;AK308510;AK308514;AK308518;AL031281;AL590556;AMYH02000463;AMYH02000464;AW583482;BC005918;BC007028;BC008383;BC015103;BI833796;CH471134;D00306;M18700;NM_005747 AAA66350;AAH05918;AAH07028;AAH08383;AAH15103;ABM84108;ABM87489;BAA00212;EAW95000;EAW95001;NP_005738;P09093 Hs.181289 1672549;1680214;1770881 RH93521;SHGC-74350;SHGC-74352 ELA3;ELA3A OTTHUMP00000002835;chymotrypsin-like elastase family member 3A;elastase 1;elastase 3A, pancreatic;elastase 3a, pancreatic (protease e);elastase IIIA;elastase-3A;protease E APPROVED protein-coding ENSG00000142789 HGNC:15944 06497 REVIEWED 1317234 CELA3B chymotrypsin-like elastase family, member 3B Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009] 1 1 1 p36.12 20626233 20638664 + 22303418 22315847 + 21976925 21989354 + 1580863;6480464 10686036;1079736;12477932;14702039;15277440;15351720;15489334;16710414;17103488;17989309;18362841;18424365;19073396;20428826;22094930;22749648;2460440;24684771;2675835;2737288;2753124;2826474;3178837;3477287;3928381;6153632;6191979;7634150 23436 P08861 ABBA01059837;ABBA01059838;ABBA01059839;AK092382;AK315798;AL590556;AMYH02000463;BC005216;BI760781;BX497562;BX499439;CH471134;M16630;M18692;NM_007352 AAA36482;AAA58454;AAH05216;BAG38141;EAW94998;EAW94999;NP_031378;P08861 Hs.728752 1672549;1770881 SHGC-74350;SHGC-74352 CBPP;E1;EL-1;ELA3B OTTHUMP00000002837;cholesterol-binding pancreatic protease;chymotrypsin-like elastase family member 3B;elastase 1;elastase 3B, pancreatic;elastase IIIB;elastase-3B;fecal elastase 1;pancreatic elastase 1;pancreatic endopeptidase E;protease E;proteinase E APPROVED protein-coding ENSG00000219073 HGNC:15945 06498 REVIEWED 1317078 CELF1 CUGBP, Elav-like family member 1 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 11 p11 47629224 47716566 - 47487489 47574792 - 47465937 47565569 - 1580863;6480464 10446244;10536163;10893231;11124939;11158314;11564876;11686919;12477932;12799066;14657503;14702039;14726956;14759258;15082764;15099703;15489334;15546872;15756469;16169070;16341674;16344560;16601207;16946708;17531403;17854664;17936705;18039683;18164289;18243120;18570922;19047369;19106619;19322201;19471022;19553194;19615732;19946888;20020773;20051426;20227387;20547756;20603324;20935630;20947024;21139048;21508681;21637851;21832049;21890473;21906983;21963094;22053931;22117072;22355723;22365833;22505724;22646166;22982313;23000965;23155001;23324604;23359188;24162737;24332808;24457600;24502807;24583282;8789448;8912635;8948631;9371827 10658 E9PKA1;E9PKU1;E9PQK4;E9PSH0;F5H0D8;F5H3J7;F5H4Y5;F5H7M7;G5EA30;Q92879 AB210019;ABBA01060703;ABBA01060704;ABBA01060705;ABBA01060706;ABBA01060707;ABBA01060708;ABBA01060709;ABBA01060710;AC090559;AF248648;AF267533;AF267534;AJ007988;AK054655;AK056024;AK057016;AK304430;AK307679;AMYH02024733;BC031079;BC036782;BM737883;CB960956;CH471064;DA217269;DA320861;DB162286;NM_001025596;NM_001172639;NM_001172640;NM_006560;NM_198700;U63289;XM_005252754;XM_005252755;XM_005252756;XM_006718122;XM_006718123;XM_006718124;XM_006718125;XM_006718126;XM_006718127;XM_006718128;XM_006718129;XM_006718130;XM_006718131 AAC50895;AAF78955;AAF78956;AAF86230;AAH31079;ABM84643;BAE06101;BAG65257;CAC20566;EAW67906;EAW67907;EAW67908;EAW67909;EAW67910;EAW67911;EAW67912;NP_001020767;NP_001166110;NP_001166111;NP_006551;NP_941989;Q92879;XP_005252811;XP_005252812;XP_005252813;XP_006718185;XP_006718186;XP_006718187;XP_006718188;XP_006718189;XP_006718190;XP_006718191;XP_006718192;XP_006718193;XP_006718194 Hs.595333 1646797;1660921;1664044;1673836;1676478;1677873;1712573;1768924;1797448;1856805;2137575;2147874;2155506;5019669;5491423 A009C12;CUGBP1_2383;G17556;G32410;MARC_11599-11600:1002739035:1;RH25600;RH36605;RH46584;RH66384;RH69518;SHGC-31447;SHGC-56849;STS-H11078;STS-N31747;X61451 CELF-1;CUG-BP;CUG-BP1;CUGBP;CUGBP1;EDEN-BP;NAB50;hNab50 50 kDa nuclear polyadenylated RNA-binding protein;BRUNOL2;CUG RNA-binding protein;CUG triplet repeat RNA-binding protein 1;CUG triplet repeat, RNA binding protein 1;CUG triplet repeat, RNA-binding protein 1;CUG-BP- and ETR-3-like factor 1;CUGBP Elav-like family member 1;EDEN-BP homolog;NAPOR;OTTHUMP00000233203;OTTHUMP00000233204;OTTHUMP00000233205;OTTHUMP00000238034;OTTHUMP00000238035;OTTHUMP00000238036;RNA-binding protein BRUNOL-2;bruno-like 2;bruno-like protein 2;deadenylation factor CUG-BP;embryo deadenylation element binding protein;embryo deadenylation element-binding protein homolog;nuclear polyadenylated RNA-binding protein, 50-kD APPROVED protein-coding ENSG00000149187 HGNC:2549 03046 601074 REVIEWED 68488 CELF2 CUGBP, Elav-like family member 2 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 10 10 10 p13 10975495 11308195 + 10838851 11378674 + 10796888 11336675 + 6480464;8554872 10524244;10893231;11158314;11414768;11577082;12110949;12477932;12535526;14973222;15033780;15146197;15342556;15358864;15894795;16344560;16385451;16713569;16920700;17383427;17474147;18258790;18292181;18325984;18951430;19738201;19913121;20379614;20628086;20677014;21379329;21439371;21444716;21822266;21832049;21890473;21906983;22505724;23000965;23251661;24124411;7869393;8889548;9887331 10659 B4DIB6;B4DZ01;E9PC62;O95319;Q5VZZ6;V9GY47;V9GYD9 AA595891;ABBA01034694;ABBA01034695;ABBA01034696;ABBA01034697;ABBA01034698;ABBA01034699;AC026887;AF036956;AF090693;AF090694;AF295068;AF432906;AK293164;AK295511;AK297313;AK297380;AK299548;AK299983;AK299992;AK302681;AK304216;AK310038;AK314087;AK316354;AL136320;AL136369;AL136452;AL138769;AL157704;AL162408;AMYH02022119;AMYH02022120;AMYH02022121;AMYH02022122;AMYH02022123;AMYH02022124;AW965523;BC036391;BC050635;BE275530;BI914655;BM699598;BP229421;BP362205;BQ213648;BU173199;CD556770;CH471072;CN356737;CR936676;CR976278;DA310511;DA819821;DB478862;KF455204;KF455209;KF573678;NM_001025076;NM_001025077;NM_001083591;NM_006561;U69546;XM_005252348;XM_005252349;XM_005252351;XM_005252354;XM_005252357;XM_005252358;XM_006717365;XM_006717366;XM_006717367;XM_006717368;XM_006717369;XM_006717370;XM_006717371;XM_006717372;XM_006717373;XM_006717374;XM_006717375 AAB09040;AAD02074;AAD13760;AAD13761;AAH36391;AAK72223;AAK72224;AAK92699;AAL27627;BAG36783;BAG56708;BAG58428;BAG59778;BAG59822;BAG61493;BAG61804;BAG61812;BAG63913;BAG65088;BAH14725;EAW86346;EAW86347;EAW86348;EAW86349;EAW86350;NP_001020247;NP_001020248;NP_001077060;NP_006552;O95319;XP_005252405;XP_005252406;XP_005252408;XP_005252411;XP_005252414;XP_005252415;XP_006717428;XP_006717429;XP_006717430;XP_006717431;XP_006717432;XP_006717433;XP_006717434;XP_006717435;XP_006717436;XP_006717437;XP_006717438 Hs.309288 1336469;1643648;1647115;1652265;1653605;1664202;1664907;1670970;1680134;1684130;1691240;1709074;1709818;1713505;1715023;1720209;1720977;1722735;1736078;1736104;1736106;1736132;1740061;1766299;1773367;1775470;1777377;1795644;1851127;1852983;2111043;2116190;2117542;2118465;2125190;2137553;2141628;2142330;2145102;2151046;2153934;2154355;2159538;2160443;2161048;2162914;2168192;2173226;2186519;2191635;5019627 A002V11;A005P23;A007B27;A008W11;CUGBP2_432;D10S1352E;D10S1362E;D10S1364E;D10S1380E;D10S1381E;D10S1394E;D10S1472;D10S1590;D10S1632;D10S2190;D10S2196;D10S2420;D10S482E;D10S585;D3S3971;G28306;G29152;G30971;G31093;G32254;G59318;G60305;MARC_31617-31618:1045770322:1;RH120236;RH120848;RH124018;RH15716;RH28458;RH44260;RH44350;RH66173;RH68770;RH69457;RH98321;RH99105;SGC30618;SHGC-149650;SHGC-31314;SHGC-32335;SHGC-84726;SHGC-85686;T16060;WI-10702;WI-14789;WI-19359;WIAF-1511 BRUNOL3;CELF-2;CUG-BP2;CUGBP2;ETR-3;ETR3 CUG triplet repeat RNA-binding protein 2;CUG triplet repeat, RNA binding protein 2;CUG-BP- and ETR-3-like factor 2;CUGBP Elav-like family member 2;ELAV-type RNA-binding protein 3;NAPOR;OTTHUMP00000019076;OTTHUMP00000019077;OTTHUMP00000019078;RNA-binding protein BRUNOL-3;bruno-like protein 3;cug triplet repeat,rna-binding protein 2;hNAPOR;neuroblastoma apoptosis-related RNA-binding protein APPROVED protein-coding ENSG00000048740 HGNC:2550 03964 602538 REVIEWED 1349358 CELF2-AS1 CELF2 antisense RNA 1 FOUND IN extracellular region (inferred) 10 10 10 p14 11290235 11291378 - 11358796 11361847 - 11316833 11320311 - 14702039;16344560 414196 Q8N7Q2 AC026887;AK097813;AMYH02022124;DB072070;HY033067;KF573678;NR_126062;XR_109007;XR_171837 BAC05176;Q8N7Q2 Hs.729598 APPROVED ncrna ENSG00000181800 HGNC:23515 18529 VALIDATED 7177065 CELF2-AS2 CELF2 antisense RNA 2 10 10 10 p14 11041745 11042413 - 11113504 11147451 - 11071541 11105488 - 12477932;16344560 439950 ABBA01034697;ABBA01034698;AL138769;AMYH02022120;BC046381;CH471072;DB336852;HG502677;NR_046108 EAW86354 Hs.568157 RP1-33E13.1 ncrna HGNC:44703 VALIDATED 1319873 CELF3 CUGBP, Elav-like family member 3 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] 1 1 1 q21 124787166 124803919 - 151672534 151689290 - 151700052 151716814 - 1580863;6480464 10893231;11158314;12477932;14702039;15009664;16169070;16713569;17725984;19913121;20628086;21900206;9225980 11189 B4DQL3;H0Y623;Q59G45;Q5SZQ8 AB209264;ABBA01049403;AF284423;AF329264;AK123206;AK298852;AL519587;AL589765;AMYH02001888;AY165003;AY165053;BC004145;BC041088;BC052491;BC068008;BC104758;BC143226;BM680140;CH471121;DR001924;KF455029;NM_001172648;NM_001172649;NM_001291106;NM_001291107;NM_007185;U80746;U80759;XM_005244858;XM_005244859;XM_006711139;XM_006711140;XM_006711141 AAB91444;AAB91450;AAG14457;AAH04145;AAH52491;AAH68008;AAI04759;AAI43227;AAK07474;AAN73884;AAN73886;BAD92501;BAG60975;EAW53419;EAW53420;EAW53421;EAW53422;NP_001166119;NP_001166120;NP_001278035;NP_001278036;NP_009116;Q5SZQ8;XP_005244915;XP_005244916;XP_006711202;XP_006711203;XP_006711204 Hs.26047 1855545;2107697;5112335 RH103590;SHGC-30813;TNRC4__5113 CAGH4;CELF-3;ERDA4;ETR-1;MGC57297;TNRC4 BRUNOL1;CAG repeat domain;CAG repeat protein 4;CUG-BP and ETR-3 like factor 3;CUG-BP- and ETR-3-like factor 3;CUGBP Elav-like family member 3;ELAV-type RNA-binding protein 1;OTTHUMP00000015266;OTTHUMP00000015267;OTTHUMP00000042873;RNA-binding protein BRUNOL-1;bruno-like protein 1;expanded repeat domain protein CAG/CTG 4;expanded repeat domain, CAG/CTG 4;trinucleotide repeat containing 4;trinucleotide repeat-containing gene 4 protein APPROVED protein-coding HGNC:11967 18210 612678 REVIEWED 1316936 CELF4 CUGBP, Elav-like family member 4 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 18 18 18 q12 31632904 31980932 - 34823003 35146000 - 37243040 37566037 - 1580863;6480464;8554872 10893231;11158314;11984006;12107411;12477932;14702039;14973222;15009664;15894795;17672918;18029348;18521091;19240061;19359265;19720736;19911421;20379614;21832049;8889548 56853 B4DHA8;K7EJ26;K7EJD7;K7EJK3;K7EJW4;K7ENR2;K7EPX2;K7EQ97;K7ERH1;M0QY66;M0R137;Q9BZC1;S4R3V5 AA669357;AB209774;ABBA01022418;ABBA01022419;ABBA01022420;ABBA01022421;ABBA01022422;ABBA01022423;AC015961;AC090386;AC093332;AC129908;AF141345;AF248650;AF248651;AF329265;AK074596;AK091694;AK126716;AK295009;AMYH02034572;AMYH02034573;BC001946;BC004167;BC045711;BC127795;BF592968;BM671360;BM718619;BQ637723;CH471088;NM_001025087;NM_001025088;NM_001025089;NM_020180;XM_005258308;XM_006722504;XM_006722505;XM_006722506;XM_006722507;XM_006722508;XM_006722509 AAF86232;AAF86233;AAG49448;AAH01946;AAH04167;AAH45711;AAI27796;AAK07475;BAC11082;BAD93011;BAG58069;EAX01394;EAX01395;EAX01396;EAX01397;NP_001020258;NP_001020259;NP_001020260;NP_064565;Q9BZC1;XP_005258365;XP_006722567;XP_006722568;XP_006722569;XP_006722570;XP_006722571;XP_006722572 Hs.435976;Hs.600908 1334562;1337916;1654717;1668108;1683331;1688879;1705510;1710070;1753907;1762493;1764235;1764497;1779298;2177858 D18S1070;D18S1100;D18S1102;D18S545;RH26837;RH36047;SHGC-108130;SHGC-146311;SHGC-147862;SHGC-148103;SHGC-153294;SHGC-32122;SHGC-82315;SHGC-83850 BRUNOL-4;BRUNOL4;CELF-4 Bruno -like 4, RNA binding protein;CUG-BP and ETR-3 like factor 4;CUG-BP- and ETR-3-like factor 4;CUGBP Elav-like family member 4;LYST-interacting protein LIP9;RNA-binding protein BRUNOL-4;RNA-binding protein BRUNOL4;bruno-like 4, RNA binding protein;bruno-like protein 4 APPROVED protein-coding ENSG00000101489 HGNC:14015 12534 612679 REVIEWED 1345217 CELF5 CUGBP, Elav-like family member 5 This gene encodes a member of the the CELF/BRUNOL protein family, which contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing and translation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 19 19 19 p13 3161110 3233889 + 3224701 3297074 + 3224676 3297076 + 1580863;6480464;8554872 10893231;11158314;12477932;19757395;20889312;21139048 60680 B4DFI3;K7ES14;Q8N6W0 AA448420;AB209067;ABBA01002806;ABBA01002807;ABBA01002808;ABBA01002809;ABBA01002810;AC005331;AC006505;AC010649;AC123911;AF248649;AF329266;AK294109;AL390161;AL832550;AMYH02035241;AMYH02035242;BC028101;BC047522;CH471139;NM_001172673;NM_021938;NR_033342;XM_006722832;XM_006722833;XM_006722834;XM_006722835;XM_006722836;XM_006722837;XM_006722838;XR_430147;XR_430148 AAC27666;AAF86231;AAH28101;AAK07476;ABM82574;ABM85763;BAD92304;BAG57444;EAW69327;EAW69328;NP_001166144;NP_068757;Q8N6W0;XP_006722895;XP_006722896;XP_006722897;XP_006722898;XP_006722899;XP_006722900;XP_006722901 Hs.655747 1342277;1759401;1770411;5019749 A009O27;D19S424;G32708;SHGC-2315 BRUNOL-5;BRUNOL5;CELF-5 CUG-BP and ETR-3 like factor 5;CUG-BP- and ETR-3-like factor 5;CUGBP Elav-like family member 5;RNA-binding protein BRUNOL-5;bruno-like 5 RNA binding protein;bruno-like protein 5 APPROVED protein-coding ENSG00000161082 HGNC:14058 12535 612680 REVIEWED 1351727 CELIAC2 celiac disease 2 ASSOCIATED WITH Celiac Disease (inferred) 7240710 11415521;11840196 317782 HGNC:19378 609754 1353568 CELIAC3 celiac disease 3 ASSOCIATED WITH Celiac Disease (inferred); Diabetes Mellitus, Insulin-Dependent, 12 (inferred); Hashimoto Disease (inferred) 7240710 10372542;11098935 317783 HGNC:19376 140300;601388;609755 1351252 CELIAC4 celiac disease 4 ASSOCIATED WITH Celiac Disease (inferred) 7240710 14517787 378773 HGNC:19377 609753 1321359 CELF6 CUGBP, Elav-like family member 6 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] 15 15 15 q24 49463203 49498641 - 72577068 72612525 - 72284727 72320184 - 1580863;6480464;8554872 10893231;12107410;12477932;14761971;23407934;8889548 60677 B3KWE6;F6UBL3;Q96J87 ABBA01038730;ABBA01038731;ABBA01038732;ABBA01038733;AC009690;AF401233;AF425606;AK124858;AK131098;AK294382;AK296004;AMYH02030752;BC030835;BC033838;BM681937;BM930660;BU732838;CA393931;CH471082;DC368992;KF456093;NM_001172684;NM_001172685;NM_052840 AAH30835;AAH33838;AAK95615;AAL34513;BAC85148;BAG54108;BAG57639;BAG58778;EAW77900;EAW77901;NP_001166155;NP_001166156;NP_443072;Q96J87 Hs.348342 1691070;2134385;2150740 RH48983;RH69326;RH77785 BRUNOL6;CELF-6 Bruno -like 6, RNA binding protein;CUG-BP and ETR-3 like factor 6;CUG-BP- and ETR-3-like factor 6;CUGBP Elav-like family member 6;OTTHUMP00000164646;RNA-binding protein BRUNOL-6;bruno-like 6, RNA binding protein;bruno-like protein 6 APPROVED protein-coding ENSG00000140488 HGNC:14059 10691 612681 REVIEWED 1348182 CELP carboxyl ester lipase pseudogene INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 9 9 9 q34.3 106499622 106504174 + 135957926 135962478 + 133082539 133087091 + 6480464 1627550;1639390;3909943;7691717 1057 Q14018 ABBA01032472;ABBA01032473;AF072711;AL162417;AMYH02021822;AW582943;L14813;M94580;NR_001275 AAA16357 Hs.654361 CELL;FLJ25862;cell1;cell2;cell3 pseudo ENSG00000170827 HGNC:1849 VALIDATED 1354258 CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008] 22 22 22 q13.3 30664148 30840512 - 46756731 46933067 - 46360834 46537170 - 1580863;2293492;6480464;8554872 17226800 10380929;10591208;10716726;10835267;11086974;11807409;12477932;12782967;15489334;16009131;16169070;19403135;19851296;20198315;20223754;20379614;20467438;21511255;21875946;22095531;22371354;23792146;9339365 9620 H0Y7R9;Q9NYQ6 ABBA01010445;ABBA01010446;ABBA01010447;ABBA01010448;ABBA01010449;ABBA01010450;ABBA01010451;ABBA01010452;ABBA01010453;ABBA01010454;AF231024;AK302517;AL021392;AL031588;AL031597;AL831846;AMYH02038536;AMYH02038537;BC000059;BC013631;CH471138;KF457493;NG_030466;NM_014246;XM_006724383 AAF61930;AAH00059;BAH13733;CAD38552;EAW73428;EAW73429;NP_055061;Q9NYQ6;XP_006724446 Hs.252387 1677496;1691096;1747487;1772483;2155066;2218364 AL031648;CELSR1_4551;G65456;RH8140;RH93715;SHGC-33921 CDHF9;DKFZp434P0729;FMI2;HFMI2;ME2 OTTHUMP00000197327;cadherin EGF LAG seven-pass G-type receptor 1;cadherin family member 9;cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila);flamingo homolog 2;protocadherin flamingo 2 APPROVED protein-coding ENSG00000075275 HGNC:1850 05160 604523 REVIEWED 733345 CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p21 108062003 108087743 + 109792641 109818378 + 109250019 109275756 + 68762;1580863;6480464;8554872 9693030 10380929;10716726;10907856;14702039;16169070;17474147;18179892;18193043;18193044;18262040;18649068;19060906;19060910;19060911;19198609;19299407;19487539;19913121;19936222;20031591;20167577;20339536;20370913;20442857;20570916;20571754;20628086;20679960;20686565;20691829;20738937;20864672;20971364;21087763;21347282;21378988;21875946;21906983;21909109;21943158;21963094;22003152;23118302;24097068;9039502 1952 Q6ZSX5;Q9HCU4 AB065955;ABBA01068376;ABBA01068377;AF234887;AK124727;AK127086;AK127745;AK309093;AL390252;AMYH02001708;CH471122;D87469;NM_001408;XM_005270580;XM_006710405 AAG00080;BAA13407;BAC06168;BAC86821;BAC87111;EAW56372;NP_001399;Q9HCU4;XP_005270637;XP_006710468 Hs.57652 1683745;1760187;2118984;2125275;2148165;2160526;2218366;5491765 CELSR2;CELSR2_4552;G16013;RH78101;RH80782;SHGC-132473;SHGC-32538;SHGC-57403 CDHF10;EGFL2;FLJ34118;FLJ42737;FLJ45143;FLJ45845;Flamingo1;KIAA0279;MEGF3 EGF-like protein 2;EGF-like-domain, multiple 2;OTTHUMP00000013794;cadherin EGF LAG seven-pass G-type receptor 2;cadherin family member 10;cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila);epidermal growth factor-like 2;epidermal growth factor-like protein 2;flamingo homolog 3;multiple EGF-like domains protein 3;multiple epidermal growth factor-like domains 3;multiple epidermal growth factor-like domains protein 3 APPROVED protein-coding ENSG00000143126 HGNC:3231 05040 604265 REVIEWED 8551896 CELSR3-AS1 CELSR3 antisense RNA 1 (head to head) 3 p21.31 48662998 48672792 + 8889548 102724368 AC121252;AC141002;AMYH02006723;BM714397;HG495649;HY035766;NR_111921;XR_427334;XR_427335;XR_427336;XR_431589;XR_431590;XR_431591 Hs.663571 ncrna HGNC:50302 VALIDATED 1342685 CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3 This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013] 3 3 3 p21.31 48629806 48656257 - 48673896 48700348 - 48636463 48662915 - 68762;1580863;6480464;8554872 9693030 10380929;10716726;10790539;12421765;12477932;15203201;16169070;16273260;17474147;17618280;20416094;21875946;8889548 1951 Q9NYQ7 AA411204;AB011536;ABBA01024642;AC005923;AC121252;AF231023;AK299868;AMYH02006723;BC111703;BC111746;BU738328;CH471055;NG_034061;NM_001407 AAF61929;BAA32464;BAG61721;EAW64914;NP_001398;Q9NYQ7 Hs.631926 2218368 CELSR3_4553 CDHF11;EGFL1;FMI1;HFMI1;MEGF2;RESDA1 EGF-like protein 1;EGF-like-domain, multiple 1;OTTHUMP00000164826;anchor protein;cadherin EGF LAG seven-pass G-type receptor 3;cadherin family member 11;cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila);epidermal growth factor-like 1;epidermal growth factor-like protein 1;flamingo homolog 1;multiple EGF-like domains 2;multiple EGF-like domains protein 2;multiple epidermal growth factor-like domains protein 2 APPROVED protein-coding ENSG00000008300 HGNC:3230 09179 604264 REVIEWED 1605138 CEMP1 cementum protein 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred) 16 16 16 p13.3 2794972 2808983 - 2580036 2581409 - 2530035 2531408 - 8554872 12477932;16263347;17509525;19393626;21465469;22349547;22797925;24117017;8889548 752014 H3BPU9;Q6PRD7 ABBA01030250;AC093525;AMYH02031254;AY584596;BC146925;BC146926;BM681118;NM_001048212 AAI46926;AAI46927;AAI52784;AAI56603;AAT01221;NP_001041677;Q6PRD7 Hs.433499;Hs.737156 1740955;1854241 GDB:176413;SHGC-61364 CP-23;CP23 cementoblastoma-derived protein 1;cementum protein 23;cementum protein-23 protein-coding ENSG00000205923 HGNC:32553 611113 VALIDATED 1602711 CEND1 cell cycle exit and neuronal differentiation 1 The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 853614 856673 - 787110 790126 - 787110 790126 - 6480464 11311134;12477932;14702039;15489334;16181419;16344560;16713569;18499894;20029029;23864651 51286 Q8N111 ABBA01015210;AF235030;AK074547;AK312993;AMYH02024152;AP006621;AY304478;BC034732;CH471158;CQ782498;DA066200;NM_016564 AAF60309;AAH34732;AAP57306;BAC11051;BAG35830;CAF85783;EAX02384;NP_057648;Q8N111 Hs.22140 1697074;1768563 RH102018;RH12688 BM88;FLJ90066;MGC34326 BM88 antigen;OTTHUMP00000164431;cell cycle exit and neuronal differentiation protein 1 APPROVED protein-coding ENSG00000184524 HGNC:24153 16300 608213 REVIEWED 1313176 CEMIP cell migration inducing protein, hyaluronan binding ENCODES a protein that exhibits clathrin heavy chain binding; ER retention sequence binding; hyaluronic acid binding; INVOLVED IN hyaluronan catabolic process; positive regulation of cell migration; positive regulation of peptidyl-threonine phosphorylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN clathrin-coated vesicle membrane; cytoplasm; endoplasmic reticulum; INTERACTS WITH 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine 15 15 15 q24 58009220 58181481 + 81071712 81244112 + 80779371 80951771 + 6480464;8554872 10574462;11247670;12421765;12471561;12477932;14577002;15489334;16157444;16406369;19434458;20379614;21145461;21443102;21772334;22276102;23509262;23936024;23990668;24269685;24573670 57214 H0YCE1;H0YL56;Q8WUJ3 AB033025;AB103330;ABBA01060631;ABBA01060632;AC023302;AC027808;AK000465;AK026540;AK027058;AL049389;AL109718;AL359061;AMYH02030888;AMYH02030889;AMYH02030890;AMYH02030891;AY007811;AY581148;AY581149;AY585237;BC020256;CH471136;DA220969;JB741872;NM_001293298;NM_001293304;NM_018689;XM_005254567;XM_005254568;XM_006720620 AAG41059;AAH20256;AAU06219;AAU06220;AAU06221;BAA86513;BAD02451;CAB94391;CDI30208;EAW99111;NP_001280227;NP_001280233;NP_061159;Q8WUJ3;XP_005254624;XP_005254625;XP_006720683 Hs.459088 1336902;1340811;1341919;1658892;1664497;1699298;1718929;1759195;1764701;1764911;1766097;1788718;1854560;2176278;2179452;5127596 D15S1037;D15S1047;D15S211;D15S551;D15S667;G10241;RH103235;RH123171;RH136636;RH48315;RH78992;SHGC-148291;SHGC-148471;SHGC-149480;SHGC-2207;SHGC-31169 CCSP1;KIAA1199;TMEM2L OTTHUMP00000185569;OTTHUMP00000195036;OTTHUMP00000195037;colon cancer secreted protein 1;transmembrane protein 2-like APPROVED protein-coding ENSG00000103888 HGNC:29213 10519 608366 VALIDATED 5687427 CEND1P1 cell cycle exit and neuronal differentiation 1 pseudogene 1 14 14 14 q32 84973141 84974169 + 104917143 104918171 + 104450806 104451834 + 16181419 122631 ABBA01003001;AMYH02029947;BX927359;NG_005601 pseudo HGNC:43674 INFERRED 5687426 CEND1P2 cell cycle exit and neuronal differentiation 1 pseudogene 2 13 13 13 q12.12 5959764 5960670 - 24897096 24898002 - 24322958 24323864 - 16181419 724034 ABBA01007889;AL359736;AMYH02027705;NG_005600 pseudo HGNC:43675 INFERRED 1349480 CENPA centromere protein A Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. CENPA encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. CENPA is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 26854943 26863518 + 27008857 27023935 + 26786014 26794589 + 1580863;6480464 10759786;11053442;11084331;11682612;11756469;11884609;12011073;12019018;12217960;12477932;12839935;14667408;15009096;15085137;15282608;15475964;15489334;15702419;15815621;16622419;16622420;17081983;17199038;17207965;17244537;17339380;17388661;17474147;17651496;18007590;18072184;18195732;19410544;19410545;19412974;19468067;19543270;19625449;19717431;20003272;20080577;20160010;20206496;2023923;20331851;20566683;20593489;20630806;20650959;20663916;20739937;21059934;21068465;21399697;21423629;21454580;21478274;21743476;21768289;21826412;21875947;21956590;21980305;22127263;22406139;22467948;22473132;22542705;22559056;22817894;23184928;23363600;23613856;23623556;23644596;23644598;23657009;23712606;23771058;23818633;23890477;24530302;24614311;7962047;9024683;9475158;9605877 1058 F8WD88;P49450 ABBA01045188;AC011740;AMYH02003466;BC000881;BC002703;BC011013;BT007246;CH471053;NM_001042426;NM_001809;U14518;U82609 AAA57416;AAB47505;AAH00881;AAH02703;AAP35910;AAX93267;ADQ33220;ADZ15788;EAX00669;EAX00670;EAX00671;EAX00672;NP_001035891;NP_001800;P49450 Hs.1594 1857416 D2S2602 CENP-A;CenH3 OTTHUMP00000122589;OTTHUMP00000214068;centromere autoantigen A;centromere protein A, 17kDa;centromere-specific histone;histone H3-like centromeric protein A APPROVED protein-coding ENSG00000115163 HGNC:1851 00313 117139 REVIEWED 1605600 CENPBD1 CENPB DNA-binding domains containing 1 ENCODES a protein that exhibits DNA binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; valproic acid 16 16 16 q24.3 75101744 75104485 - 90036183 90039240 - 89969775 89972832 - 6480464 12136098;12477932;14667819;14702039;15231747;24250222 92806 B2RD01 ABBA01014119;AC092143;AI039958;AJ330130;AJ335427;AK056131;AK074351;AK315352;AMYH02032689;AW136311;BC005105;BC009263;BC040698;CD518450;NM_145039 B2RD01;BAG37748;NP_659476 Hs.513832;Hs.733302 1677086;5015619;5024756 D11S3114;RH80030;RH92795 FLJ23771;FLJ31569;MGC13198;MGC16385 CENPB DNA-binding domain-containing protein 1 protein-coding ENSG00000177946 HGNC:28272 08321 VALIDATED 1604603 CENPBD1P1 CENPBD1 pseudogene 1 19 19 19 q13.43 56129505 56138500 + 59086766 59095762 + 58575399 58584395 + 11329013;12477932 65996 AA418278;ABBA01020756;ABBA01020757;AC016629;AK000827;AK098293;AK311347;AL708489;AMYH02036540;BC000766;BC001952;BC025349;BC043401;BC065480;BC067232;BC098570;BC119702;BC119703;BG214270;CH471135;NR_026052 EAW72619 Hs.541177 1694618;1722289;2114252;2123301;2183499 G43332;G60058;RH78436;STS-N93869;STS-T03365 FLJ18389;MGC111383;MGC149628 APPROVED pseudo ENSG00000213753 HGNC:28421 14527 VALIDATED 1312443 CENPB centromere protein B, 80kDa This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. [provided by RefSeq, Jul 2008] 20 20 20 p13 3826368 3829208 - 3764498 3767337 - 3783851 3786690 - 1580863;6480464;8554872 11084331;11682612;11780052;11812799;11884609;12011073;12217960;12477932;14522975;14612452;1469042;15009096;15489334;15634350;15635413;16183641;16565220;16622419;16713569;17258208;1740467;17968937;18072184;1893793;19412974;19471022;19615732;19714638;19723035;20195357;2022189;20222802;21252943;21693764;21832049;21890473;21900206;21963094;22467948;22505724;23000965;23325853;2335558;23940030;23978223;2435739;24457600;7862152;7896278;8198697;8406460;9451007 1059 P07199 ABBA01053831;AF002713;AF002714;AL109804;AMYH02036605;BC003649;BC012297;BC021577;BC033658;BC040446;BC053847;CH471133;NM_001810;X05299;X55039 AAB70165;AAB70166;AAH12297;AAH53847;CAA28918;CAA38879;EAX10502;NP_001801;P07199 Hs.516855;Hs.713340 2129758;2146020;2219778 Bdyc4e10;CENPB_4555;RH78109 CENP-B OTTHUMP00000030132;centromere autoantigen B;major centromere autoantigen B APPROVED protein-coding ENSG00000125817 HGNC:1852 00314 117140 REVIEWED 1354407 CENPC centromere protein C Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008] 4 4 4 q13.2 65800619 65873659 - 68337989 68411256 - 67472271 67545538 - 1580863;6480464;8554872 11682612;11925107;12006616;12477932;12490152;1339310;14578343;14612452;15009096;15272016;15717329;16565220;16622419;16716197;17081983;17287400;17623812;17643375;17651496;18029348;18624398;19328558;19482874;19503796;20360068;21139048;21353556;21693764;21890473;21988832;22540025;23000965;24654937;7959789;8702533;8941372;9261558;9645950 1060 H0Y8J2;H0Y9W1;Q03188;Q6PIR0 ABBA01022898;ABBA01022899;ABBA01022900;AC104806;AC109356;AF151723;AK307928;AK308170;AK308214;AK309437;AMYH02009376;BC030695;BC041117;BX648166;CD710556;CH471057;M95724;NM_001812;XM_006714064;XM_006714065;XR_245245 AAA51974;AAF73191;AAH30695;AAH41117;EAX05545;EAX05546;NP_001803;Q03188;XP_006714127;XP_006714128 Hs.479867 2130819;2171422;2182433 G41979;RH17759;SHGC-67937 CENP-C;CENP-C 1;CENPC1;MIF2;hcp-4 OTTHUMP00000218847;centromere autoantigen C;centromere autoantigen C1;centromere protein C 1;interphase centromere complex protein 7 APPROVED protein-coding ENSG00000145241 HGNC:1854 00315 117141 REVIEWED 1350876 CENPCP1 centromere protein C pseudogene 1 INTERACTS WITH methamphetamine 12 12 12 q21.33 89565358 89568532 + 89893685 89896859 + 89499908 89503082 + 6480464 12490152;7959789;8406460 1061 ABBA01053418;ABBA01053419;AC010201;AMYH02026904;NG_003044 2182433 RH17759 CENPC;CENPC1P1;CENPC2 centromere protein c2, 140kda APPROVED pseudo HGNC:1855 INFERRED 1352971 CENPF centromere protein F, 350/400kDa This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008] 1 1 1 q41 187999934 188061298 + 214776522 214837914 + 214603189 214664571 + 1580863;6480464;8554872 10373470;10852915;11084331;11549288;12154071;12467231;12507285;12974617;14720137;14968112;15494374;15654331;15677469;15870278;15927522;16219694;16252009;16456711;16565220;16601978;16672379;16730941;16964243;17043677;17081983;17205517;17363900;17600710;17620599;19008095;19102762;19471022;19723035;19850743;20015195;20053638;20213041;20309963;20360068;20398247;20660191;20811636;20828406;20972266;20978035;21139048;21145461;21613637;21659360;21890473;21906983;21963094;21987812;22586326;22912832;22939629;23000965;23097494;23163484;23791740;24163370;24823640;7542657;7612011;7642639;7651420;7851898;7904902;9497340;9763420;9891037;9950165 1063 P49454 ABBA01048143;AK307690;AL445305;AL445666;AMYH02002665;BG680819;BQ774943;BU155312;BU662228;CD654009;CH471100;HI574254;NM_016343;U19769;U25725;U30872 AAA82889;AAA82935;AAA86889;AAI72232;CBX47616;EAW93350;NP_057427;P49454 Hs.497741 1663871;1773844;2052320;2109127;2134389;2135192;2182484 CENPF_8250;D1S3278;REN97317;RH16564;RH47698;SHGC-33480;SHGC-36458 CENF;PRO1779;hcp-1 AH antigen;CENP-F kinetochore protein;OTTHUMP00000035028;cell-cycle-dependent 350K nuclear protein;centromere protein F;centromere protein F, 350/400kDa (mitosin);centromere protein F, 350/400ka (mitosin);kinetochore protein CENPF;mitosin APPROVED protein-coding ENSG00000117724 HGNC:1857 02582 600236 REVIEWED 1316119 CENPE centromere protein E, 312kDa Centrosome-associated protein E is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. CENPE is proposed to be one of the motors responsible for mammalian chromosome movement and/or spindle elongation. [provided by RefSeq, Jul 2008] 4 4 4 q24-q25 101324102 101416733 - 104026963 104119566 - 103105806 103198409 - 1580863;6480464;8554872 10477750;10852915;11084331;11337467;11682612;12686615;12925705;12938929;1406971;14684825;15146197;15159587;15181147;15236970;15297875;16144904;16196087;16565220;16682006;16926026;17081983;17268814;17370265;17535814;18029348;18342609;18374647;18460473;19389623;19465021;19525938;19553660;19625775;19723035;19733075;19779646;19946888;20021663;20085233;2022189;20237434;20332099;20354862;20360068;20691903;21139048;21282530;22110139;22307330;22637578;22801780;22974711;23236152;23314748;23666240;23740391;23891108;23955301;24748105;7851898;7889940;9363944;9391217;9744883;9763420;9914370 1062 D6RBW0;D6RHK2;Q02224 AA210728;AA210858;AB209996;ABBA01063707;ABBA01063708;ABBA01063709;ABBA01063710;AC079919;AK290362;AL596934;AMYH02009821;AU100312;AW499901;AY429526;BQ231878;BQ434767;BQ447425;CD644410;CH471057;CN418651;HI573938;NM_001286734;NM_001813;Z15005 AAI56502;BAE06078;BAF83051;CAA78727;CBX47458;EAX06169;EAX06170;EAX06171;NP_001273663;NP_001804;Q02224 Hs.75573 1647993;1671699;1720251;1770780;1774095;2134128;2142855;2151039 D4S2810;RH123874;SHGC-10601;SHGC-23104;SHGC-23114;SHGC-50720;STS-H95785;STS-Z15005 CENP-E;KIF10;PPP1R61 Centromere autoantigen E (312kD);OTTHUMP00000219480;centromere-associated protein E;kinesin family member 10;kinesin-related protein CENPE;protein phosphatase 1, regulatory subunit 61 APPROVED protein-coding ENSG00000138778 HGNC:1856 00316 117143 VALIDATED 733555 CENPI centromere protein I The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. This gene is also a potential candidate for human X-linked disorders of gonadal development and gametogenesis. [provided by RefSeq, Jul 2008] X X X q22.1 100873565 100936744 + 100353178 100418667 + 101098204 101163678 + 1580863;6480464 12477932;12640463;15009096;1538749;15489334;15772651;16565220;16622419;16622420;16716197;18045986;19471022;21139048;21832049;21888900;21890473;24250222;24862574;7758824;8921378 2491 Q5JX01;Q5JX02;Q92674 ABBA01044940;ABBA01044941;ABBA01044942;ABBA01044943;ABBA01044944;ABBA01044945;ABBA01044946;ABBA01044947;ABBA01044948;ABBA01044949;ABBA01044950;AK302986;AL109963;AMYH02040064;AMYH02040065;AX405685;BC005967;BC012462;BG114761;BQ224168;CH471115;M78295;NG_012510;NM_006733;X97249;XM_005262111 AAH12462;BAG64126;CAA65884;CAD34792;EAX02840;EAX02841;EAX02842;EAX02843;NP_006724;Q92674;XP_005262168 Hs.348920;Hs.737663 1337154;1701778;5109281;7187269 D1S1425;D6S1615;DXS1257 CENP-I;FSHPRH1;LRPR1;Mis6 FSH primary response 1;FSH primary response protein 1;OTTHUMP00000023668;OTTHUMP00000023671;follicle-stimulating hormone primary response protein;interphase centromere complex protein 19;leucine-rich primary response protein 1 APPROVED protein-coding ENSG00000102384 HGNC:3968 02089 300065 REVIEWED 5128968 CENPIP1 centromere protein I pseudogene 1 13 13 13 762517 767680 + 19700617 19705780 + 19126477 19131640 + 100419337 ABBA01068549;AL137001;AL139327;AMYH02027607;NG_024888 1748417 G64219 pseudo HGNC:39575 INFERRED 1312617 CENPH centromere protein H Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008] 5 5 5 p15.2 65484639 65505450 + 68485375 68506184 + 69189548 69210357 + 1580863;6480464 11092768;12477932;14536089;15009096;15489334;15502821;15713649;15930286;16622419;16622420;16716197;16875666;17255272;17353931;17651496;18045986;18700042;19170237;19232519;19322201;19500341;19625449;21139048;21454580;21875947;21880184;21890473;21906983;22381774;22505724;22631655;22682030;22869522;22999412;23000965;23383273;23970101 64946 B3KVZ3;D6RBJ6;H0Y9E6;Q9H3R5 AB035124;ABBA01048282;ABBA01048283;ABBA01048284;AC022107;AC093223;AK123761;AK290746;AMYH02011469;AMYH02011470;BC012024;BC015355;CH471137;CS300652;NM_022909 AAH12024;AAH15355;ABM85584;BAB18635;BAF83435;BAG53955;CAK32316;EAW51304;EAW51305;NP_075060;Q9H3R5 Hs.631967 CENP-H;NNF1;PMF1 OTTHUMP00000123477;OTTHUMP00000221978;OTTHUMP00000221979;interphase centromere complex protein 35;kinetochore protein CENP-H APPROVED protein-coding ENSG00000153044 HGNC:17268 12029 605607 REVIEWED 1605966 CENPK centromere protein K CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008] 5 5 5 q12.3 61812111 61857460 - 64813593 64858995 - 65517766 65563188 - 6480464 10996314;12477932;15009096;15489334;16622419;16622420;16716197;18045986;20211142;21139048;22505724;23898208;8950979 64105 D6R984;D6RAX0;D6RBN6;D6RC76;D6RHD3;D6RJF0;H0Y9K8;Q9BS16 ABBA01048329;ABBA01048330;AC008560;AC016620;AF315941;AMYH02011427;AMYH02011428;AY009151;BC005400;BC008504;BG502832;CH471137;KF457915;KF457917;NM_001267038;NM_022145;XM_006714668 AAG31004;AAH05400;AAH08504;AAL26880;ABM83467;ABM86678;EAW51353;EAW51354;NP_001253967;NP_071428;Q9BS16;XP_006714731 Hs.529778 1688817;1689029;1724441;1727533 G63024;RH122383;RH150;RH93623 AF5alpha;CENP-K;FKSG14;P33;Solt OTTHUMP00000161888;OTTHUMP00000222309;OTTHUMP00000222310;OTTHUMP00000222311;OTTHUMP00000222312;OTTHUMP00000222316;SoxLZ/Sox6-binding protein Solt;interphase centromere complex protein 37;leucine zipper protein FKSG14;protein AF-5alpha APPROVED protein-coding ENSG00000123219 HGNC:29479 13323 611502 VALIDATED 1605310 CENPL centromere protein L CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008] 1 1 1 q25.1 146878160 146903249 - 173768688 173794325 - 173799550 173824639 - 6480464;8554872 12477932;14702039;15009096;15489334;16344560;16622419;16622420;16710414;16716197;17207965;19322201;21139048;21890473;21906983;23000965;23455924 91687 Q8N0S6;Q96MW3 ABBA01027900;AK055606;AK056348;AL109921;AMYH02002157;BC007071;BC007923;BC019022;BC033154;BC066658;CH471067;DA173140;DA472686;DB244459;DN995099;NM_001127181;NM_001171182;NM_033319 AAH07071;AAH33154;AAH66658;ADQ32199;BAB70968;BAB71159;EAW90956;EAW90957;EAW90958;EAW90959;NP_001120653;NP_001164653;NP_201576;Q8N0S6 Hs.531856;Hs.720473 1652363;1656587;2158438;5020948;5022588 AL009891;D5S1597E;G35510;RH35920;SHGC-75912 C1orf155;CENP-L;FLJ31044;FLJ31786;RP3-383J4.1;dJ383J4.3 OTTHUMP00000032689;OTTHUMP00000032690;OTTHUMP00000032691;interphase centromere complex protein 33 APPROVED protein-coding ENSG00000120334 HGNC:17879 15909 611503 VALIDATED 1321379 CENPJ centromere protein J This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012] 13 13 13 q12.12 6519974 6560638 - 25456412 25497027 - 24882274 24922889 - 1580863;6480464;7240710;8554872;8699517 11003675;11076968;11592063;11984006;12198240;12221128;12477932;12843329;12852856;14702039;15047868;15057823;15489334;15687488;15793586;16316625;16344560;16462731;16516142;16631324;16713569;16900296;17681131;18162190;18586240;19131341;19481458;19481460;19503075;19889632;20080800;20301772;20522431;20531387;20936779;21059844;21297427;22100914;22699936;23369793;23511974;23703321;23810536;23857771;24255178;24385583;24491538;24700465;7790358;8889548 55835 A8K8P1;H0Y5L8;Q5JPD5;Q9HC77 ABBA01007897;AF139625;AF141337;AF141343;AF217509;AJ303006;AK123551;AK292406;AL354798;AL833182;AMYH02027714;BC024209;BC092467;BC113110;BC113111;BC113662;BC113664;BC143757;BC143758;BU687310;CH471075;DB029167;DB062002;NG_009165;NM_018451;NR_047594;NR_047595;XR_429218 AAF67620;AAG21074;AAG49440;AAG49446;AAH24209;AAH92467;AAI13111;AAI13112;AAI13663;AAI13665;ADR83295;BAF85095;BAG53911;CAC80028;CAI46195;EAX08351;EAX08352;EAX08353;EAX08354;NP_060921;Q9HC77 Hs.513379;Hs.741581 1688492 RH92371 BM032;CENP-J;CPAP;LAP;LIP1;MCPH6;MGC131581;MGC131582;MGC142222;MGC142224;SASS4;SCKL4;Sas-4 LAG-3-associated protein;LYST-interacting protein 1;LYST-interacting protein LIP1;LYST-interacting protein LIP7;OTTHUMP00000018137;centrosomal P4.1-associated protein APPROVED protein-coding ENSG00000151849 HGNC:17272 09876 608393;609279;613676 REVIEWED 1316428 CENPM centromere protein M The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPM is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008] 22 22 22 q13.2 26140977 26149371 - 42334531 42343155 - 41938527 41947151 - 6480464 10591208;12477932;12529303;14702039;15009096;15183305;15461802;15489334;16391015;16622419;16622420;16716197;19773279;21139048;23202124 79019 B1AHQ6;B1AHQ7;B1AHQ8;Q9NSP4 ABBA01055657;AK123479;AL160131;AMYH02038449;BC000705;BC007495;BE797487;BU556693;CH471095;CR456399;CR457392;EU035297;NM_001002876;NM_001110215;NM_024053;XM_005261736;XR_244383;Z99716 AAH00705;AAH07495;ABS84666;BAC85624;CAB77147;CAG30285;CAG33673;EAW60474;EAW60475;EAW60476;NP_001002876;NP_001103685;NP_076958;Q9NSP4;XP_005261793 Hs.208912 1686006;2117013;2118749;5024761 GDB:313501;RH36905;RH91321;SHGC-37658 C22orf18;CENP-M;MGC861;PANE1;bK250D10.2 OTTHUMP00000199658;OTTHUMP00000199660;OTTHUMP00000199661;OTTHUMP00000199662;OTTHUMP00000226075;chromosome 22 open reading frame 18;interphase centromere complex protein 39;proliferation associated nuclear element 1;proliferation-associated nuclear element protein 1 APPROVED protein-coding ENSG00000100162 HGNC:18352 12798 610152 VALIDATED 1603636 CENPN centromere protein N The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 16 16 16 q23.2 65338504 65365102 + 81040103 81066712 + 81006498 81033107 + 6480464 12477932;14702039;15009096;15489334;16622419;16622420;16716197;17081983;19543270;21139048;21890473;21906983;21963094;22100916;22426531;24250222 55839 H3BMC7;H3BMD5;H3BRU7;Q96H22 ABBA01016986;AC092718;AF217515;AK023669;AK026313;AK296024;AK298554;AMYH02032503;AW085187;BC007334;BC008972;BC039021;BQ013821;CH471114;HY167728;HY363272;HY374758;NM_001100624;NM_001100625;NM_001270473;NM_001270474;NM_018455;XM_006721236 AAF67626;AAH07334;AAH08972;BAG51215;BAG58793;BAG60749;EAW95553;EAW95554;EAW95555;EAW95556;NP_001094094;NP_001094095;NP_001257402;NP_001257403;NP_060925;Q96H22;XP_006721299 Hs.726537 1690990;1730505;5020274;5022578;5022623;5037552;7184806 D11S2687;D1S1423;D3S587;D8S2279;L18441;RH99185 BM039;C16orf60;CENP-N;FLJ13607;FLJ22660;ICEN32 OTTHUMP00000174973;OTTHUMP00000174974;OTTHUMP00000174975;interphase centromere complex protein 32 APPROVED protein-coding ENSG00000166451 HGNC:30873 12528 611509 REVIEWED 1603956 CENPO centromere protein O This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 2 2 2 p23.3 24856666 24883102 + 25016175 25045245 + 24793306 24822376 + 6480464 12477932;14702039;15009096;15342556;15489334;15815621;16189514;16344560;16622419;16622420;16716197;16751776;16932742;17207965;18007590;19204145;19286853;19447967;20379614;21139048;21980299;22623531;23028590;23563607 79172 Q53SX2;Q9BU64 ABBA01045122;AC012073;AC013459;AK027859;AK315483;AL514456;AMYH02003423;AMYH02003424;BC002870;BP366489;BX110829;CH471053;DA001951;DQ572275;NM_001199803;NM_024322;XM_006712102;XR_244957;XR_244958 AAH02870;AAX93185;AAY14786;ADQ31911;BAB55414;BAG37867;EAX00742;EAX00743;EAX00744;NP_001186732;NP_077298;Q9BU64;XP_006712165 Hs.731569 1648033;1651143;1660957;1688118;1795316;1797268;1847858;2145529;5092800 A006F11;ADCY3_1034;ADCY3_2051;D5S2617;G32338;RH36332;RH80427;WI-11275;WI-13582 CENP-O;ICEN-36;MCM21R;MGC11266 OTTHUMP00000155185;OTTHUMP00000200877;centromeric protein O;interphase centromere complex protein 36 APPROVED protein-coding ENSG00000138092 HGNC:28152 14414 611504 REVIEWED 1603809 CENPP centromere protein P CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008] 9 9 9 q22.31 65524050 65819504 + 95087741 95377446 + 92325468 92615164 + 6480464;8554872 12477932;14702039;15164053;15489334;16344560;16622419;16622420;17207965;19913121;20379614;20628086;21139048;21454580;21890473;23028590 401541 Q6IPU0;Q7Z672;X6R9C8 ABBA01018584;ABBA01018585;ABBA01018586;ABBA01018587;ABBA01018588;ABBA01018589;ABBA01018590;ABBA01018591;AK091247;AK092603;AK307262;AK307435;AL136097;AL137848;AL157827;AL833701;AMYH02021220;AMYH02021221;AMYH02021222;AMYH02021223;BC071726;BX537851;CS063592;DB056659;NM_001012267;NM_001286969;NM_001286971 AAH71726;ADQ31992;BAG52317;BAG52579;CAD97859;CAI84531;NP_001012267;NP_001273898;NP_001273900;Q6IPU0 Hs.713775 1646952;1657427;1664140;1670882;1671432;1689025;1723923;1728115;1750187;1752083;1755941;1773086;1849331;1850144;1850601;1854718;2106549;2108327;2109071;2117773;2140046;2159005;2180310;2187282 ASPN_9828;D9S2071;D9S2074;G63329;OGN_8519;OMD__6110;RH119473;RH16376;RH36006;RH36468;RH47432;RH65517;RH68398;RH69754;RH80964;SHGC-106025;SHGC-112287;SHGC-142765;SHGC-34584;SHGC-35056;STS-H75800;STS-N30894;WI-11467;WI-14229 CENP-P;FLJ33928;RP11-19J3.3 OTTHUMP00000021661 APPROVED protein-coding ENSG00000188312 HGNC:32933 17989 611505 VALIDATED 1604795 CENPT centromere protein T The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008] 16 16 16 q22.1 52370476 52389773 - 67862060 67881361 - 67828157 67847458 - 6480464 12477932;14702039;15009096;15489334;16169070;16565220;16622419;16622420;16716197;19070575;19412974;19533040;21454580;21695110;21832049;22561346;23334297;23926101;8125298 80152 B3KPB2;B4DMP9;H3BMP6;H3BN05;H3BQ71;H3BQJ0;H3BQS6;H3BTR4;H3BTS2;H3BUW2;I3L4F8;Q96BT3 ABBA01025460;ABBA01025461;ABBA01025462;AC040162;AK023173;AK055237;AK056097;AK125366;AK225399;AK291527;AK297570;AK300887;AK301621;AMYH02032243;AMYH02032244;BC007642;BC007864;BC015202;BC042204;BX648617;CD242240;CH471092;NM_025082;XM_006721277;XM_006721278;XM_006721279 AAH07642;AAH07864;AAH15202;BAB14445;BAB70884;BAF84216;BAG51624;BAG59961;BAG62529;BAG63106;EAW83178;EAW83179;NP_079358;Q96BT3;XP_006721340;XP_006721341;XP_006721342 Hs.288382 1732309;1847429;1847431;1852041;1854980;2133460;2156834 A006C32;D16S2576E;D16S667E;G11818;G20704;RH78543;SHGC-61118 C16orf56;CENP-T;FLJ13111;FLJ43376 interphase centromere complex protein 22 APPROVED protein-coding ENSG00000102901 HGNC:25787 611510 VALIDATED 1344338 CENPQ centromere protein Q CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008] 6 6 6 p12.3 50987302 51017018 + 49431054 49460820 + 49463341 49493107 + 6480464;8554872 12477932;14574404;14702039;15489334;16622419;16622420;19060904;21139048;21454580;21832049;21890473;23028590;23455924;24816145;25015289 55166 Q7L2Z9 AA460110;AA811376;ABBA01050591;ABBA01050592;AI039464;AK001407;AK293016;AL590244;AL590668;AMYH02013709;AMYH02013710;BC016279;BI768787;CH471081;NM_018132;XM_005249205 AAH16279;BAA91672;BAF85705;EAX04332;EAX04333;NP_060602;Q7L2Z9;XP_005249262 Hs.88663 1711328 SHGC-84918 C6orf139;CENP-Q;FLJ10545 OTTHUMP00000016579;chromosome 6 open reading frame 139 APPROVED protein-coding ENSG00000031691 HGNC:21347 10788 611506 VALIDATED 8549328 CENPUP1 centromere protein U pseudogene 1 11 11 11 p15.2 13903244 13904775 + 13777587 13779111 + 13756040 13757564 + 100130384 ABBA01061119;AC013828;AMYH02024350;NG_021809 pseudo HGNC:49889 INFERRED 8549228 CENPUP2 centromere protein U pseudogene 2 12 12 12 30392580 30393775 - 25245600 25246795 - 25092666 25093861 - 100419930 ABBA01068014;AC023510;AMYH02026217;NG_023991 pseudo HGNC:49890 INFERRED 1351502 CENPU centromere protein U The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008] 4 4 4 q35.1 182944051 182984129 - 185615219 185655286 - 184694065 184734132 - 6480464 11768657;12477932;12941884;14702039;15009096;15116101;15231747;15489334;15893739;16287847;16565220;16622419;16622420;16716197;17081991;17595757;18029348;19471022;19597481;19615732;20360068;21056971;21139048;21454580;21693764;21890473;21900206;22446962;22990118;23028590;24250222;8889548 79682 D6R9S4;Q09GN1;Q71F23 AA761728;ABBA01070517;ABBA01070518;AC079257;AF469667;AF516710;AK027121;AK292297;AMYH02010652;AW440254;BC031520;BC067802;BC107744;BC131556;BC141854;BG031878;BX355581;CH471056;CR457376;DQ907910;DQ907911;NM_024629;NR_104593;XM_005263218 AAH31520;AAI07745;AAI31557;AAI41855;AAQ05290;AAQ08228;ABI49142;ABI49143;BAB15665;BAF84986;CAG33657;EAX04666;NP_078905;Q71F23;XP_005263275 Hs.575032 1648061;1652339;1675321;1690722;1690832;1771511;2117577;2163671;2176920;5093946 D4S1073;G33016;RH36537;RH67709;RH76703;RH92480;SHGC-35919;SHGC-50366;SHGC-51545;SHGC-68220 CENP-50;CENP-U;CENP-U(50);CENP50;CENPU50;FLJ23468;KLIP1;MLF1IP;PBIP1 KSHV latent nuclear antigen interacting protein 1;KSHV latent nuclear antigen-interacting protein 1;MLF1 interacting protein;MLF1-interacting protein;OTTHUMP00000218329;OTTHUMP00000218330;centromere protein of 50 kDa;interphase centromere complex protein 24;polo-box-interacting protein 1 APPROVED protein-coding HGNC:21348 14722 611511 VALIDATED 1351678 CENPV centromere protein V ENCODES a protein that exhibits carbon-sulfur lyase activity (inferred); INVOLVED IN ameboidal cell migration; centromere complex assembly; pericentric heterochromatin assembly; FOUND IN cytoplasm; kinetochore; microtubule cytoskeleton; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 17 17 17 p11.2 16148781 16159756 - 16245831 16256812 - 16342534 16353498 - 737633;1580863;6480464 12477932 12196509;15489334;17000644;18029348;18772885;19930468;21139048;22959728;24457600 201161 K7ERN6;Q7Z7K6 ABBA01035655;ABBA01035656;AC005971;AF514992;AMYH02033074;AMYH02033075;AY382899;BC052604;BC137486;BC137487;BQ052702;BU618545;CH471222;NM_181716 AAH52604;AAI37487;AAI37488;AAM76703;AAR24368;EAX04499;EAX04500;NP_859067;Q7Z7K6 Hs.433422 2148716;2149089;2149091 G20572;RH16154;STS-G20572 3110013H01Rik;CENP-V;PRR6;p30 OTTHUMP00000065642;nuclear protein p30;proline rich 6;proline-rich protein 6 protein-coding ENSG00000166582 HGNC:29920 608139 VALIDATED 6482617 CENPVP2 centromere protein V pseudogene 2 X X p11.22 51424145 51425447 - 51681212 51682514 - 441495 AC234030;AL662886;BE466872;NR_033773 Hs.187774 2115690 WI-13835 pseudo HGNC:43879 VALIDATED 3302684 CENPVP1 centromere protein V pseudogene 1 INTERACTS WITH valproic acid X X X p11.22 56276005 56277307 - 51453925 51455227 + 51710829 51712131 + 6480464 389857 Q3ZM64 ABBA01059977;AC234030;AC247046;AL929101;AY730278;NR_033772 AAW56972 Hs.730388 2115690 WI-13835 CENPVL1;PRR6L1 APPROVED pseudo ENSG00000223591 HGNC:31851 VALIDATED 6482621 CENPVP3 centromere protein V pseudogene 3 X X X p11.22 55404773 55405549 - 51360949 51361725 - 51618097 51618873 - 347549 ABBA01059985;AC234030;AL390060;AMYH02039370;NG_022598 pseudo HGNC:43880 INFERRED 1350206 CENPW centromere protein W ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); INVOLVED IN chromosome organization; chromosome segregation; kinetochore assembly; FOUND IN chromosome, centromeric region; kinetochore; INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 6 6 6 q22.32 127403569 127412070 + 126660660 126670548 + 126339789 126483320 + 6480464 12477932;17610844;18391951;19070575;19266077;19430480;19533040;20075984;20180024;20546612;20648695;20846217;20881960;21102462;21695110;21998595;22002061;22131368;22504418;23306614;23563607;23917355;23926101 387103 Q5EE01 ABBA01025943;AC020559;AI207187;AL356534;AL832235;AMYH02014439;AX972753;AY902475;BC017928;BC039556;BC046178;BC062798;BM721156;BM874602;CH471051;NM_001012507;NM_001286524;NM_001286525;NR_104462 AAH17928;AAH39556;AAH46178;AAH62798;AAW82474;CAF17861;EAW48119;EAW48120;EAW48121;EAW48122;EAW48123;NP_001012525;NP_001273453;NP_001273454;Q5EE01 Hs.486401 C6orf173;CENP-W;CUG2;DKFZp686L1553 OTTHUMP00000017157;OTTHUMP00000017158;OTTHUMP00000017159;cancer-up-regulated gene 2 protein;cancer-upregulated gene 2 APPROVED protein-coding HGNC:21488 16660 611264 VALIDATED 1604510 CEP112 centrosomal protein 112kDa This gene encodes a protein with filament, myosin tail and ATPase domains. Orthologs of this gene exist in mouse, rat and chimp. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 17 17 17 q24.1 60201968 60760023 - 63631658 64188212 - 65635540 66192094 - 6480464;8554872 11329013;12477932;14702039;15489334;19851299;20378664;20379614;20417281;20732626;21399614;23279374 201134 A2RRR7;B4DR29;F5GYE8;J3KSN4;J3QL98;J3QQV3;J3QRD9;J3QSA5;Q8N8E3 AA723963;ABBA01029036;ABBA01029037;ABBA01029038;ABBA01029039;ABBA01029040;ABBA01029041;AC004805;AC006120;AC006440;AC007716;AC087302;AC105028;AF458591;AK096929;AK097612;AK098070;AK299075;AMYH02033809;AMYH02033810;AMYH02033811;AMYH02033812;AMYH02033813;AMYH02033814;BC029524;BC037991;BC131805;BG203878;BG531260;BX097629;CH471099;CX872964;DC327965;KF456311;NM_001037325;NM_001199165;NM_145036;XM_005257119;XM_005257122;XM_005257125;XM_005257126;XM_006721740;XM_006721741;XM_006721742;XM_006721743;XM_006721744 AAH29524;AAH37991;AAI31806;AAM49719;BAG53575;BAG61141;EAW89007;EAW89008;EAW89009;EAW89010;NP_001032402;NP_001186094;NP_659473;Q8N8E3;XP_005257176;XP_005257179;XP_005257182;XP_005257183;XP_006721803;XP_006721804;XP_006721805;XP_006721806;XP_006721807 Hs.408676 1340065;1686540;1721929;1728107;1778450;2108847;2140414;2171748;2175653;5124039 D17S113;D17S1309;D17S1882;D17S1999;G59997;G63325;NUTF2_9060;RH45124;RH65001;RH94273 CCDC46;FLJ39610;MGC33887 MACOCO;centrosomal protein of 112 kDa;coiled-coil domain containing 46;coiled-coil domain-containing protein 46 APPROVED protein-coding ENSG00000154240 HGNC:28514 11336 VALIDATED 1605416 CEP104 centrosomal protein 104kDa ENCODES a protein that exhibits glutamate binding (inferred); glycine binding (inferred); thienylcyclohexylpiperidine binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN centriole; INTERACTS WITH copper(2+) sulfate; testosterone enanthate; valproic acid 1 1 1 p36.32 2982705 3023114 - 3728645 3773797 - 3812081 3857233 - 6480464;8554872 12477932;15489334;16344560;16710414;21399614;24250222;7488117;9628581 9731 H7C0J5;J3QLL3;O60308;Q5SR26;Q5SR27 AB011134;ABBA01073650;ABBA01073651;AK302190;AK308191;AL365330;AL691523;AMYH02000138;BC001640;BC026020;BC047450;BC050721;BM052650;CH471130;DA081362;DA482423;DA652315;NM_014704;XM_005244815 AAH01640;AAH47450;AAH50721;BAA25488;BAH13645;EAW71481;EAW71482;EAW71483;EAW71484;NP_055519;O60308;XP_005244872 Hs.133089;Hs.509017 1648262;1674440;5015959;5016478;5016596;5022463;5037552;5113220;5117897 D10S2448;D3S1673;D8S2279;GDB:434012;GDB:631802;GDB:631813;RH65640;SHGC-57243;SHGC-74088 GlyBP;KIAA0562;RP1-286D6.4 OTTHUMP00000003590;centrosomal protein of 104 kDa;glycine-, glutamate-, thienylcyclohexylpiperidine-binding protein APPROVED protein-coding ENSG00000116198 HGNC:24866 11091 VALIDATED 1344060 CEP128 centrosomal protein 128kDa ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centriole; cytoplasm; microtubule organizing center; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; calcitriol 14 14 14 q31.1 61002764 61445813 - 80962821 81408105 - 80496478 80941761 - 6480464;8554872 12477932;14702039;16344560;18029348;20379614;20966902;21139048;21399614;21890473;21906983;23362303 145508 G3V3F4;G3V3U2;G3V4J9;G9BAV9;H0YIZ9;H0YJD7;H0YJE3;H0YJH2;Q6ZU80;Q86TS1;Q9ULA4 ABBA01030613;AC010072;AC018513;AC022404;AI857800;AI937080;AK056756;AK125925;AK309833;AMYH02029616;AMYH02029617;AMYH02029618;AMYH02029619;AMYH02029620;BC036939;BC045834;BC150610;BX248746;CD366820;DB320407;HQ215523;KF455965;KF510405;NM_152446;XM_006720056;XM_006720057 AAF09033;AAF86565;AAG17473;AAH36939;AAH45834;AAI50611;ADP09384;BAB71273;CAD66553;NP_689659;Q6ZU80;XP_006720119;XP_006720120 Hs.162889 1657323;1705512;1718709;1719431;1723171;1748727;1756325;1775116;1776759;2118321;2128814 D14S1238;G10271;G36009;RH11025;RH123433;RH123770;RH124025;RH68242;SHGC-110367;SHGC-143310;SHGC-83852 C14orf145;C14orf61;LEDP/132 OTTHUMP00000246025;centrosomal protein of 128 kDa;hypothetical protein LOC145508;lens epithelium-derived protein APPROVED protein-coding ENSG00000100629 HGNC:20359 09834 VALIDATED 1601819 CEP120 centrosomal protein 120kDa This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 5 5 5 q23.2 118636070 118714783 - 122680579 122759286 - 123344885 123423592 - 6480464 12477932;14702039;16344560;17920006;17920017;19079260;19584346;20360068;20881960;21139048;21890473;21988832;22589738;23810536;23857771;24250222;8889548 153241 B4DLH5;D6R8Z4;D6REX9;E5RJ50;F8VRV0;Q8N960 ABBA01068940;AC010369;AC106792;AK093409;AK095646;AK296999;AL833929;AMYH02012100;AMYH02012101;BC040527;BC144558;BX648687;CB854619;CH471086;CR627324;DA508726;DB092908;KC877110;KC877115;KC877116;NM_001166226;NM_153223;XM_005271901 BAC04155;BAC04596;BAG59537;CAD38785;CAH10371;CAH10561;EAW48873;EAW48874;EAW48875;NP_001159698;NP_694955;Q8N960;XP_005271958 Hs.483209 1684864;1688648;1703590;1739059;2133323 D5S1779;RH92910;RH98859;SHGC-64745;STS-H99380 CCDC100;DKFZp686I06246;FLJ36090;FLJ38327 OTTHUMP00000159173;OTTHUMP00000223003;centrosomal protein of 120 kDa;coiled-coil domain containing 100;coiled-coil domain-containing protein 100 APPROVED protein-coding ENSG00000168944 HGNC:26690 08769 613446 REVIEWED 1350849 CEP135 centrosomal protein 135kDa This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012] 4 4 4 q12 54321484 54405978 + 56814974 56899529 + 55948808 56033363 + 737633;6480464;8699517;7240710;8554872 12477932 11076968;12221128;12852856;14654843;14702039;15231748;16462731;17081983;17353931;17681131;18851962;20301772;20360068;21139048;21282530;21906983;22521416;22939629;23511974;25015289;7790358;8889548;9734811 9662 Q66GS9 AB014535;ABBA01003418;AC092627;AC110611;AC118280;AK023683;AK309554;AMYH02009252;AMYH02009253;BC012003;BC136535;BC136536;BF448516;BK005586;BU734129;CA438857;DA944890;NG_032806;NM_025009;XM_005265788;XM_006714055 AAH12003;AAI36536;AAI36537;BAA31610;DAA05590;NP_079285;Q66GS9;XP_005265845;XP_006714118 Hs.518767 2185392;5017266;5022200;5022450;5037552 D10S275;D8S2279;L18426;L18506;SHGC-67792 CEP4;KIAA0635;MCPH8 OTTHUMP00000218886;centrosomal protein 4;centrosomal protein of 135 kDa;centrosome protein cep135 APPROVED protein-coding ENSG00000174799 HGNC:29086 09954;11097 611423;614673 REVIEWED 1346806 CEP131 centrosomal protein 131kDa ENCODES a protein that exhibits protein homodimerization activity; INVOLVED IN intraciliary transport involved in cilium morphogenesis; positive regulation of cell proliferation; positive regulation of intracellular protein transport; FOUND IN BBSome; centriolar satellite; centriole; INTERACTS WITH 17beta-estradiol; 2-methylcholine; methyl methanesulfonate 17 17 17 q25.3 75792729 75827295 - 79163393 79196793 - 81189593 81222983 - 1580863;6480464 10470851;11076968;12221128;12359729;12477932;12852856;14654843;15489334;16462731;16964243;17081983;17452972;18029348;18062773;20185758;20360068;20811636;21139048;21890473;21906983;21956701;21963094;22505724;22797915;23000965;23137637;23382691;24121310;24255178;24816145;7790358;8529672;8889548;9070930 22994 I3L2J8;I3L2X7;I3L316;I3L4M5;Q9UPN4 AB029041;ABBA01032129;ABBA01032130;ABBA01032131;ABBA01032132;AC027601;AI955901;AMYH02034121;AMYH02034122;BC010413;BC011615;BC012130;BC040023;BC136578;BC136580;BC144263;BE732160;BE734213;BG773915;BU742835;BX394713;CH471099;NM_001009811;NM_014984;XM_005257174;XM_005257176 AAH11615;AAI36579;AAI36581;BAA83070;EAW89631;EAW89632;NP_001009811;NP_055799;Q9UPN4;XP_005257231;XP_005257233 Hs.514578 1651109;1757985 RH16520;SHGC-147035 AZ1;AZI1;ZA1 5-azacytidine induced 1;5-azacytidine-induced protein 1;OTTHUMP00000163603;centrosomal protein 131 kDa;centrosomal protein of 131 kDa;pre-acrosome localization protein 1 APPROVED protein-coding ENSG00000141577 HGNC:29511 16532 613479 VALIDATED 1316522 CEP162 centrosomal protein 162kDa INVOLVED IN cilium assembly; FOUND IN axonemal microtubule; centriole; centrosome; INTERACTS WITH atrazine; copper(2+) sulfate; progesterone 6 6 6 q14.3 85267314 85370685 - 84833960 84937386 - 84124241 84227667 - 6480464 10231032;11521196;11827452;12477932;12522145;14702039;16302001;17353931;17370265;18029348;21139048;22779921;23455924;23644468;24255178 22832 F6V2J0;Q5TB80 AB023226;ABBA01040461;ABBA01040462;ABBA01040463;AK023613;AK308190;AL138742;AMYH02014023;AMYH02014024;AMYH02014025;AW069289;BC063632;BC127206;BC127207;CD684914;CH471051;DC424230;KF510959;NM_001286206;NM_014895;XM_005248674;XM_005248675;XM_005248678;XM_006715380;XR_241844 AAI66703;BAA76853;BAG51210;EAW48644;EAW48645;NP_001273135;NP_055710;Q5TB80;XP_005248731;XP_005248732;XP_005248735;XP_006715443 Hs.485865 1655145;1663163;1707398;1719157;1724371;2156184 RH122349;RH123296;RH18542;RH35873;SHGC-84483;WI-22202 C6orf84;FLJ13551;KIAA1009;QN1 OTTHUMP00000016806;OTTHUMP00000196885;centrosomal protein of 162 kDa;chromosome 6 open reading frame 84;protein QN1 homolog APPROVED protein-coding ENSG00000135315 HGNC:21107 10796 610201 VALIDATED 1604825 CEP152 centrosomal protein 152kDa This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 15 15 15 q21.1 25923760 25996973 - 49030135 49104092 - 48737935 48811146 - 6480464;7240710;8699517;8554872 10048485;10409428;10521316;12421765;12477932;14654843;15146197;15489334;18029348;20301772;20360068;20547088;20598275;20682791;20852615;21059844;21059850;21131973;21139048;21145461;21903422;22219177;22505724;23251661;23333316;23402259;23641073;23728906;23936128;24137814;24255178;24277814;24997597 22995 H0YMG1;H0YN91;O94986;Q3B7A2 AB020719;ABBA01039135;AC012379;AC022084;AC084757;AI038653;AK025247;AK303805;AMYH02030388;AMYH02030389;BC029603;BC069186;BC107721;BC117182;BG941609;BX648822;CH471082;CN394613;NG_027518;NM_001194998;NM_014985;XM_006720437 AAH69186;AAI07722;AAI17183;BAA74935;BAG64759;EAW77355;NP_001181927;NP_055800;O94986;XP_006720500 Hs.443005;Hs.597323 1337418;1652710;1675387;1711284;1788442 D15S962;RH91342;SHGC-37705;SHGC-89292;fe05g09.x1 FLJ21594;KIAA0912;MCPH4;MCPH9;SCKL5 asterless;centrosomal protein of 152 kDa;microcephaly, primary autosomal recessive 4 APPROVED protein-coding ENSG00000103995 HGNC:29298 16778 604321;613529;613823;614852 REVIEWED 7205518 CEP164P1 centrosomal protein 164kDa pseudogene 1 10 10 10 q11.21 41569484 41569831 - 45566212 45566657 - 45070764 45071209 - 100289237 ABBA01050024;AL358394;AMYH02022732;NG_032712 pseudo HGNC:44988 INFERRED 1605084 CEP164 centrosomal protein 164kDa This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 11 11 11 q23.3 114356228 114441648 + 117184792 117283982 + 117321778 117413266 + 6480464;8699517;7240710;8554872 10470851;11076968;12221128;12477932;12852856;14654843;14702039;16052032;16196087;16462731;17954613;18029348;18283122;19197159;19322201;20301743;21139048;21963094;21987572;21988832;22004425;22863007;23150559;23253480;23314748;24982133;7790358 22897 E9PI05;E9PIM2;E9PLS8;E9PR73;Q9UPV0 AB028975;ABBA01039725;ABBA01039726;ABBA01039727;AK001412;AK125995;AK302991;AK303067;AL117632;AL137265;AL833532;AMYH02025629;AP000892;AP001822;BC000602;BC054015;BX647583;BX648682;CH471065;NG_033032;NM_001271933;NM_014956;XM_005271452;XM_005271453;XM_005271454;XM_005271455;XM_005271456;XM_005271457;XM_005271458;XM_005271459;XM_005271460;XM_006718788;XM_006718789;XM_006718790;XM_006718791;XM_006718792;XM_006718793;XM_006718794;XR_428971 AAH00602;AAH54015;AAI52749;AAI56877;BAA83004;BAA91677;BAC86384;BAG64184;BAH13870;CAB56023;CAB70664;EAW67318;EAW67319;EAW67320;EAW67321;NP_001258862;NP_055771;Q9UPV0;XP_005271509;XP_005271510;XP_005271511;XP_005271512;XP_005271513;XP_005271514;XP_005271515;XP_005271516;XP_005271517;XP_006718851;XP_006718852;XP_006718853;XP_006718854;XP_006718855;XP_006718856;XP_006718857 Hs.504009 1671235;1676073;1737983 D11S3585;G29552;RH80543 FLJ54767;KIAA1052;NPHP15 OTTHUMP00000235011;OTTHUMP00000235015;centrosomal protein of 164 kDa protein-coding ENSG00000110274 HGNC:29182 10854 614845;614848 REVIEWED 1605104 CEP170 centrosomal protein 170kDa The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q44 216649094 216705506 - 243287730 243419284 - 243124428 243255982 - 6480464 12477932;12586822;12938929;14654843;14702039;15161933;15324660;15342556;15489334;15616186;16083285;16710414;17043677;17081983;17110338;18654987;19626040;20360068;20379614;21139048;22190034;22261722;22321011;22586326;23087211;23398456;23443559;23444366;23897914;23974872;24250222;24255178;24778252;24816145;9455484 9859 E5RFU8;E5RG47;E5RGW7;E5RIH6;E5RJT5;E7EMW0;E7EWM2;H0Y2V6;H0Y4T4;H0YB66;H0YB92;Q5SW79 AB007939;AB022657;AB022658;AB022659;ABBA01001590;ABBA01005648;ABBA01005649;ABBA01047217;ABBA01047218;AC092782;AK001664;AK296812;AK299552;AK310003;AK313722;AL161964;AL606534;AMYH02003061;AMYH02003062;AMYH02003063;BC050722;BC078155;BC140794;BC146790;BP349206;BP349680;CB410835;CH878356;KF455178;NG_029663;NM_001042404;NM_001042405;NM_014812;XM_005273361;XM_006711843;XM_006711844;XM_006711845;XM_006711846;XM_006711847;XM_006711848;XM_006711849;XM_006711850;XM_006711851;XM_006711852;XM_006724974;XM_006724975;XM_006724976;XM_006724977;XM_006724978;XM_006724979;XM_006724980;XM_006724981;XM_006724982;XM_006724983;XM_006724984 AAH50722;AAH78155;AAI40795;AAI46791;BAA32315;BAA83378;BAA83379;BAA83380;BAG36464;BAG50958;BAG59385;BAG61497;CAB82309;EAW50478;NP_001035863;NP_001035864;NP_055627;Q5SW79;XP_005273418;XP_006711906;XP_006711907;XP_006711908;XP_006711909;XP_006711910;XP_006711911;XP_006711912;XP_006711913;XP_006711914;XP_006711915;XP_006725037;XP_006725038;XP_006725039;XP_006725040;XP_006725041;XP_006725042;XP_006725043;XP_006725044;XP_006725045;XP_006725046;XP_006725047 Hs.533635 1652615;1675365;1685085;1686108;1687127;1714127;1714415;1723519;1774034;2137529;2171047;2219846;5094074 D4S1255;D4S1286;G17821;G33981;G34957;KAB__6501;RH118577;RH119671;RH120200;RH65672;RH67046;RH80002;RH92199 FAM68A;KAB;KIAA0470 KARP 1 binding protein;KARP-1-binding protein;KARP1-binding protein;OTTHUMP00000037806;OTTHUMP00000037807;OTTHUMP00000037808;OTTHUMP00000037809;XRCC5 binding protein;centrosomal protein of 170 kDa APPROVED protein-coding ENSG00000143702 HGNC:28920 17172 613023 REVIEWED 1345091 CEP170B centrosomal protein 170B ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; cyclosporin A 14 14 14 q32.33 85386210 85417492 + 105331650 105363107 + 104865313 104896770 + 737633;6480464;8554872 12477932 12508121;14702039;15146197;15489334;16712791;17370265;17549794;20360068;20562859;20682791;23087211;23382691;24255178;9179496 283638 J3KQR7;Q9Y4F5 AA244396;AB006622;ABBA01008848;ABBA01008849;AI828210;AK025023;AK091980;AK300834;AL537476;AL583810;AMYH02029956;AMYH02029957;BC047913;BC112928;BC127882;BU170784;CB156500;CH471061;CN314060;NM_001112726;NM_015005;XM_005267550 AAH47913;AAI12929;BAA22953;BAG52454;BAG62485;EAW81886;NP_001106197;NP_055820;Q9Y4F5;XP_005267607 Hs.533721 1655186;2119490 G36149;RH48502 CEP170R;FAM68C;KIAA0284;MGC131679 Cep170-related;OTTHUMP00000244363;OTTHUMP00000244364;centrosomal protein of 170 kDa protein B;hypothetical protein LOC283638 APPROVED protein-coding ENSG00000099814 HGNC:20362 12388 VALIDATED 1602374 CEP170P1 centrosomal protein 170kDa pseudogene 1 This locus appears to be a transcribed pseudogene similar to centrosomal protein 170kDa (CEP170). An approximately 50 kb region upstream of this locus also is homologous to CEP170, but is not transcribed. [provided by RefSeq, Jul 2008] 4 4 4 q26 116752685 116769005 + 119437495 119475359 + 118516340 118554204 + 6480464 12477932;16189514;19447967 645455 Q96L14 ABBA01044678;ABBA01044679;ABBA01044680;ABBA01044681;AC092670;AMYH02009984;BC014590;KF457819;NR_003135 Q96L14 Hs.408293 1652615;1675365;1685085;1687127;1714127;1714415;1723519;1760561;1774034;2137529;2171047;2219846;5094074 D4S1255;D4S1286;G17821;G33981;G34957;KAB__6501;RH118577;RH119671;RH120200;RH65672;RH67046;RH80002;SHGC-143983 CEP170L;FAM68B;KIAA0470;KIAA0470L;MGC26143 APPROVED pseudo ENSG00000154608 HGNC:28364 PROVISIONAL 1602846 CEP19 centrosomal protein 19kDa The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014] 3 3 3 q29 278 2735 - 196433144 196439131 - 196706273 196712259 - 6480464 12477932;14702039;15489334;16189514;17207965;21399614;21988832;24250222;24268657 84984 A8MX07;Q96LK0 ABBA01033752;AC055725;AK058155;AK314070;AMYH02008495;AY099509;BC007827;BX104011;HY057609;HY077859;NG_034109;NM_032898;XM_005269370 AAH07827;AAM47487;ADQ32381;BAB71691;BAG36771;NP_116287;Q96LK0;XP_005269427 Hs.282800 1699124;5015605 D11S2977;RH103138 C3orf34;MGC14126;MOSPGF OTTHUMP00000204669;centrosomal protein of 19 kDa;hypothetical protein LOC84984 APPROVED protein-coding ENSG00000174007 HGNC:28209 17488 615586;615703 REVIEWED 1605669 CEP192 centrosomal protein 192kDa ENCODES a protein that exhibits phosphatase binding; INVOLVED IN centrosome duplication; negative regulation of phosphatase activity; spindle assembly; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN centrosome; cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; copper(2+) sulfate 18 18 18 p11.21 12873895 13007438 + 12991352 13125052 + 12991353 13125053 + 6480464;8554872 10997877;11076968;11230166;12221128;12477932;12852856;14654843;14702039;15862967;16344560;16462731;17980596;18029348;18207742;19389623;19615732;20360068;20379614;21097701;21139048;21906983;22895009;23314748;23443559;23641073;23932902;24250222;24255178;24277814;24997597;7790358 55125 B7ZMF0;C9JT09;H0Y966;H0Y9P3;K7ELX0;K7ENP4;K7EPA2;K7EQZ8;K7ERF9;Q8TEP8;Q9HCK3;V9GYM2 AA761229;AB046789;ABBA01074032;ABBA01074033;ABBA01074034;ABBA01074035;AF318363;AK001214;AK074074;AK094448;AK096548;AL136818;AL833494;AMYH02034344;AP001357;AP002449;BC144480;BC144481;BX648232;BX649151;DB079620;KJ567064;NM_032142;XM_005258107;XM_005258108;XM_005258109;XM_005258110;XM_006722326;XM_006722327;XM_006722328;XM_006722329;XM_006722330;XM_006722331;XM_006722332;XR_243809;XR_430040 AAI44481;AAI44482;AAL55870;AIA61642;BAA91559;BAB13395;BAB84900;BAG52866;CAB66752;NP_115518;Q8TEP8;XP_005258164;XP_005258165;XP_005258166;XP_005258167;XP_006722389;XP_006722390;XP_006722391;XP_006722392;XP_006722393;XP_006722394;XP_006722395 Hs.100914 1337734;1679884;1686472;1778416;2109215;7183427;7183681 Cep192_9877;D16S494;RH16502;RH68416;RH98709;SHGC-30984 PPP1R62 OTTHUMP00000218756;OTTHUMP00000218758;centrosomal protein of 192 kDa;protein phosphatase 1, regulatory subunit 62 protein-coding ENSG00000101639 HGNC:25515 10855 VALIDATED 1604786 CEP290 centrosomal protein 290kDa This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008] 12 12 12 q21.32 88110804 88204074 - 88442790 88535993 - 88049013 88142216 - 6480464;7240710;8554872;8662303;8699517;8662295;8662304 16632484;17898177;24671090 11076968;11149944;11162484;12221128;12477932;12493773;12852856;14623284;14654843;14702039;15474516;16462731;16541075;16682970;16682973;16909394;17081983;17345604;17409309;17554762;17564967;17564974;17617513;17705300;17724218;18079693;18327255;18694559;18772192;18950740;19596686;19753312;19764032;19946888;19959640;20130272;20301475;20301500;20301537;20301743;20683928;20690115;20801516;20805370;20936779;21068128;21139048;21245082;21565611;21685394;21890473;22261722;22355252;22441691;22863007;23028714;23411883;23443559;23446637;23576398;23943788;24051377;24121310;24421332;24664739;24816145;7790358;8889548;9205841 80184 F8VS29;F8W097;F8W0V9;J3KNF5;O15078;Q05BJ6;S4R322 AB002371;ABBA01053428;AC091516;AF273044;AF317887;AK023677;AK025632;AMYH02026897;AY590151;BC008641;BC043398;BK005587;BU676074;BX537653;CH471054;DQ109808;NG_008417;NM_025114;XM_005269158;XM_005269160;XM_005269161;XM_006719609;XM_006719610 AAG34904;AAH08641;AAH43398;AAI56463;AAI72566;AAK01919;AAT01278;AAZ83370;BAA20828;BAB15196;DAA05591;EAW97413;EAW97414;NP_079390;O15078;XP_005269215;XP_005269217;XP_005269218;XP_006719672;XP_006719673 Hs.150444 1653957;1674616;1686708;1803260;1806400;1816456;1817150;1818872;1819318;1821050;1821188;1821592;1835646;1845140;2033970;2033972;2033974;2033976;2033978;2033980;2033982;2033984;2033986;2033988;2033990;2033992;2033994;2033996;2033998;2034000;2034002;2034004;2034006;2034008;2034010;2034012;2034014;2034016;2034018;2034020;2034022;2034024;2034026;2034028;2034030;2034032;2034034;2034036;2034038;2034040;2034042;2034044;2034046;2034048;2034050;2034052;2034054;2034056;2034058;2102076;2102078;2102080;2102082;2112112 DXS9796;ECD02523;ECD04156;ECD09270;ECD09625;ECD10500;ECD10726;ECD11602;ECD11671;ECD11882;ECD18979;ECD23787;REN87994;REN87995;REN87996;REN87997;REN87998;REN87999;REN88000;REN88001;REN88002;REN88003;REN88004;REN88005;REN88006;REN88007;REN88008;REN88009;REN88010;REN88011;REN88012;REN88013;REN88014;REN88015;REN88016;REN88017;REN88018;REN88019;REN88020;REN88021;REN88022;REN88023;REN88024;REN88025;REN88026;REN88027;REN88028;REN88029;REN88030;REN88031;REN88032;REN88033;REN88034;REN88035;REN88036;REN88037;REN88038;RH15617;RH77993;WI-22205;stSG603662;stSG603664;stSG603665;stSG603668 3H11Ag;BBS14;CT87;FLJ13615;FLJ21979;JBTS5;JBTS6;KIAA0373;LCA10;MKS4;NPHP6;POC3;SLSN6;rd16 Bardet-Biedl syndrome 14 protein;CTCL tumor antigen se2-2;Meckel syndrome, type 4;OTTHUMP00000242341;POC3 centriolar protein homolog;cancer/testis antigen 87;centrosomal protein of 290 kDa;monoclonal antibody 3H11 antigen;nephrocytsin-6;prostate cancer antigen T21;tumor antigen se2-2 APPROVED protein-coding ENSG00000198707 HGNC:29021 08585;10856 209900;610142;610188;610189;611134;611755 REVIEWED 1347521 CEP250 centrosomal protein 250kDa This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. [provided by RefSeq, Jun 2009] 20 20 20 q11.22 30791817 30848393 + 34042988 34105360 + 35455166 35517531 + 1580863;6480464;8554872 10880350;11035016;11076968;11780052;12140259;12221128;12477932;12852856;12857871;15231748;15324660;15489334;15604093;16462731;17979178;18391951;18851962;19056867;20189936;20508983;20546612;20618440;20708153;20936779;21139048;21697133;21832049;21853274;21890473;22505724;23000965;23070519;23128233;23443559;24250222;24816145;7790358;9506584;9647649 11190 A6PVI9;E7ETF9;E9PHT2;H0Y5R2;H7C0D6;H7C0P0;Q5JWS5;Q5JWS6;Q9BV73 AB621828;ABBA01019160;AF022655;AF049105;AK297572;AK307861;AL037087;AL121586;AMYH02037000;BC001433;BC071869;BC144706;BM996444;CH471077;FO393401;NM_007186;XM_005260262;XM_005260263;XM_005260264;XM_005260265;XM_006723690;XM_006723691;XM_006723692;XM_006723693;XM_006723694;XM_006723695 AAC06349;AAC07988;AAH71869;AAI72439;BAG59963;BAK64163;CAB89415;CAI42839;CAI42840;CAO03345;CAO03346;EAW76204;EAW76205;EAW76206;EAW76207;NP_009117;Q9BV73;XP_005260319;XP_005260320;XP_005260321;XP_005260322;XP_006723753;XP_006723754;XP_006723755;XP_006723756;XP_006723757;XP_006723758 Hs.443976 1799336;1799640;1801532;1804176;1804228;1805566;1805920;1806856;1807872;1808488;1809212;1809944;1811194;1811770;1812616;1812708;1813284;1814600;1814656;1814750;1814822;1815598;1817836;1818990;1819366;1821702;1824766;1825246;1826300;1830516;1830828;1831146;1832376;1833054;1833236;1835724;1836214;1836894;1837742;1837848;1838242;1838724;1839498;1840930;1841656;1842624;1842696;1843516;1973816;1973818;1973820;1973822;1973824;1973826;1973828;1973830;1973832;1973834;1973836;1973838;1973840;1973842;1973844;1973846;1973848;1973850;1973852;1973854;1973856;1973858;1973860;1973862;1973864;1973866;1973868;1973870;1973872;1973874;1973876;1973878;1973880;1973882;1973884;1973886;1973888;1973890;1973892;1973894;1973896;1973898;1973900;1973902;1973904;1973906;1973908;1973910;1973912;1973914;1973916;1973918;1973920;1973922;1973924;1973926;1973928;1973930;1973932;1973934;1973936;1973938;1973940;1973942;1973944;1973946;1973948;1973950;1973952;1973954;1973956;1973958;1973960;1973962;1973964;1973966;1973968;1973970;1973972;1973974;1973976;1973978;1973980;1973982;1973984;1973986;1973988;1973990;1973992;1973994;1973996;1973998;1974000;1974002;1974004;1974006;1974008;1974010;1974012;1974014;1974016;1974018;1974020;1974022;1974024;1974026;1974028;1974030;1974032;1974034;1974036;1974038;1974040;1974042;1974044;1974046;1974048;1974050;1974052;1974054;1974056;1974058;1974060;1974062;1974064;1974066;1974068;1974070;1974072;1974074;1974076;1974078;1974080;1974082;1974084;1974086;1974088;1974090;1974092;1974094;1974096;1974098;1974100;1974102;1974104;1974106;1974108;1974110;1974112;1974114;1974116;1974118;1974120;1974122;1974124;1974126;1974128;1974130;1974132;1974134;1974136;1974138;1974140;1974142;1974144;1974146;1974148;1974150;1974152;1974154;1974156;1974158;1974160;1974162;1974164;1974166;1974168;1974170;1974172;1974174;1974176;1974178;1974180;1974182;1974184;1974186;1974188;1974190;1974192;1974194;1974196;1974198;1974200;1974202;1974204;1974206;1974208;1974210;1974212;1974214;1974216;1974218;1974220;1974222;1974224;1974226;1974228;1974230;1974232;1974234;1974236;1974238;1974240;1974242;1974244;1974246;1974248;1974250;1974252;1974254;1974256;1974258;1974260;1974262;1974264;1974266;1974268;1974270;1974272;1974274;1974276;1974278;1974280;1974282;1974284;1974286;1974288;1974290;1974292;1974294;1974296;1974298;1974300;1974302;1974304;1974306;1974308;1974310;1974312;1974314;2109129;2175942;2181023;2215292;2215294;2215296;2215298;2215300;2215302;2215304;2215306;2215308;2215310;2215312;2215314;2215316;2215318;2215320;2215322;2215324;2215326;2215328;2215330;2215332;2215334;2215336;2215338;2215340;2215342;2215344;2215346;2215348;2215350;2215352;2215354;2215356;2215358;2215360;2215362;2215364;2215366;2215368;2215370;2215372;2215374;5125775 CEP2_9239;ECD00517;ECD00674;ECD01644;ECD03008;ECD03037;ECD03731;ECD03913;ECD04393;ECD04911;ECD05226;ECD05596;ECD05964;ECD06595;ECD06889;ECD07318;ECD07365;ECD07662;ECD08330;ECD08358;ECD08406;ECD08442;ECD08836;ECD09972;ECD10560;ECD10750;ECD11937;ECD13481;ECD13724;ECD14263;ECD16393;ECD16550;ECD16709;ECD17327;ECD17669;ECD17760;ECD19019;ECD19268;ECD19611;ECD20039;ECD20094;ECD20293;ECD20540;ECD20931;ECD21658;ECD22025;ECD22519;ECD22555;ECD22967;REN57794;REN57795;REN57796;REN57797;REN57798;REN57799;REN57800;REN57801;REN57802;REN57803;REN57804;REN57805;REN57806;REN57807;REN57808;REN57809;REN57810;REN57811;REN57812;REN57813;REN57814;REN57815;REN57816;REN57817;REN57818;REN57819;REN57820;REN57821;REN57822;REN57823;REN57824;REN57825;REN57826;REN57827;REN57828;REN57829;REN57830;REN57831;REN57832;REN57833;REN57834;REN57835;REN57836;REN57837;REN57838;REN57839;REN57840;REN57841;REN57842;REN57843;REN57844;REN57845;REN57846;REN57847;REN57848;REN57849;REN57850;REN57851;REN57852;REN57853;REN57854;REN57855;REN57856;REN57857;REN57858;REN57859;REN57860;REN57861;REN57862;REN57863;REN57864;REN57865;REN57866;REN57867;REN57868;REN57869;REN57870;REN57871;REN57872;REN57873;REN57874;REN57875;REN57876;REN57877;REN57878;REN57879;REN57880;REN57881;REN57882;REN57883;REN57884;REN57885;REN57886;REN57887;REN57888;REN57889;REN57890;REN57891;REN57892;REN57893;REN57894;REN57895;REN57896;REN57897;REN57898;REN57899;REN57900;REN57901;REN57902;REN57903;REN57904;REN57905;REN57906;REN57907;REN57908;REN57909;REN57910;REN57911;REN57912;REN57913;REN57914;REN57915;REN57916;REN57917;REN57918;REN57919;REN57920;REN57921;REN57922;REN57923;REN57924;REN57925;REN57926;REN57927;REN57928;REN57929;REN57930;REN57931;REN57932;REN57933;REN57934;REN57935;REN57936;REN57937;REN57938;REN57939;REN57940;REN57941;REN57942;REN57943;REN57944;REN57945;REN57946;REN57947;REN57948;REN57949;REN57950;REN57951;REN57952;REN57953;REN57954;REN57955;REN57956;REN57957;REN57958;REN57959;REN57960;REN57961;REN57962;REN57963;REN57964;REN57965;REN57966;REN57967;REN57968;REN57969;REN57970;REN57971;REN57972;REN57973;REN57974;REN57975;REN57976;REN57977;REN57978;REN57979;REN57980;REN57981;REN57982;REN57983;REN57984;REN57985;REN57986;REN57987;REN57988;REN57989;REN57990;REN57991;REN57992;REN57993;REN57994;REN57995;REN57996;REN57997;REN57998;REN57999;REN58000;REN58001;REN58002;REN58003;REN58004;REN58005;REN58006;REN58007;REN58008;REN58009;REN58010;REN58011;REN58012;REN58013;REN58014;REN58015;REN58016;REN58017;REN58018;REN58019;REN58020;REN58021;REN58022;REN58023;REN58024;REN58025;REN58026;REN58027;REN58028;REN58029;REN58030;REN58031;REN58032;REN58033;REN58034;REN58035;REN58036;REN58037;REN58038;REN58039;REN58040;REN58041;REN58042;REN58043;RH78165;RH79248;STS-Z40915;stSG636635;stSG636636;stSG636638;stSG636639;stSG636640;stSG636641;stSG636642;stSG636643;stSG636644;stSG636645;stSG636646;stSG636647;stSG636648;stSG636649;stSG636650;stSG636651;stSG636652;stSG636653;stSG636654;stSG636655;stSG636656;stSG636658;stSG636659;stSG636660;stSG636661;stSG636662;stSG636663;stSG636664;stSG636665;stSG636666;stSG636667;stSG636668;stSG636669;stSG636670;stSG636671;stSG636672;stSG636673;stSG636674;stSG636675;stSG636676;stSG636677;stSG636678 C-NAP1;CEP2;CNAP1;MGC88542 250 kDa centrosomal protein;OTTHUMP00000030757;centrosomal Nek2-associated protein 1;centrosomal protein 2;centrosomal protein, 250-KD;centrosome associated protein;centrosome-associated protein CEP250 APPROVED protein-coding HGNC:1859 09877 609689 REVIEWED 1602084 CEP295 centrosomal protein 295kDa ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN centrosome; cytoplasm; cytoskeleton; INTERACTS WITH paracetamol; valproic acid; zoledronic acid 11 11 11 q21 90686257 90754974 + 93394816 93463524 + 93661650 93730358 + 6480464;8554872 11181995;11214970;12477932;14702039;17043677;20379614;20844083;21906983;21963094;21987572;22505724;24250222;24255178;25131205 85459 E9PJG3;E9PJY3;E9PM20;H0YDK0;Q9C0D2 AA747565;AB051518;ABBA01040043;ABBA01040044;AK057804;AK095218;AK095859;AK098232;AMYH02025365;AMYH02025366;AP001273;AP003499;BC015989;BC017394;CH471065;DW414641;NM_033395;XM_005274366;XM_005274367;XM_005274368;XM_006718930;XM_006718931;XM_006718932 BAB21822;BAB71582;BAC04502;BAC04638;BAC05264;EAW66906;EAW66907;EAW66908;EAW66909;EAW66910;NP_203753;Q9C0D2;XP_005274423;XP_005274424;XP_005274425;XP_006718993;XP_006718994;XP_006718995 Hs.458418 1675686;2138824 RH35;RH48903 CEP295;FLJ40913;KIAA1731 OTTHUMP00000235956;centriolar protein CEP295;centrosomal protein KIAA1731;hypothetical protein LOC85459 APPROVED protein-coding ENSG00000166004 HGNC:29366 VALIDATED 1605105 CEP350 centrosomal protein 350kDa The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q25.2 153031443 153191583 + 179923908 180084015 + 179954773 180114880 + 6480464;8554872 11891061;12477932;14654843;14702039;15615782;16314388;16341674;16344560;16565220;16710414;16713569;17081983;17878239;18029348;19156129;19946888;20360068;20379614;20936779;21139048;21282530;21890473;21906983;21963094;22286137;22505724;22990118;23443559;23568457;23602568;8619474;8889548;9110174;9455484 9857 A2A4F6;E9PIK0;H0Y6Q4;H0Y7F7;H0YD38;Q5T2X4;Q5T2X5;Q5VT06 AB007949;ABBA01027803;ABBA01027804;AF287356;AF387614;AK000704;AK022813;AK026986;AK095601;AK126046;AL353708;AL390718;AL590632;AL645487;AMYH02002238;AMYH02002239;AY007149;BC017847;BC033619;BC048310;BM675467;BM787594;BM905228;CH471067;DA716735;DB072323;NM_014810;XM_005245638;XM_006711666;XM_006711667;XM_006711668;XM_006711669;XM_006711670;XM_006711671 AAH17847;AAI72424;AAL55733;AAL91355;BAA32325;EAW91070;EAW91071;EAW91072;EAW91073;NP_055625;Q5VT06;XP_005245695;XP_006711729;XP_006711730;XP_006711731;XP_006711732;XP_006711733;XP_006711734 Hs.413045 1341997;1648619;1656134;1693040;1720243;1724183;1752701;1772113;2110297;2137631;2145809 AL009954;AL034248;CAP350__4502;D1S2751;RH121227;RH123870;RH69987;SHGC-106562;SHGC-63646;SHGC-76001;SHGC-76004 CAP350;FLJ38282;FLJ44058;GM133;KIAA0480;RP11-502H18.1 OTTHUMP00000033199;centrosome associated protein 350;centrosome-associated protein 350;centrosome-associated protein of 350 kDa APPROVED protein-coding ENSG00000135837 HGNC:24238 09870 REVIEWED 1318333 CEP44 centrosomal protein 44kDa FOUND IN centrosome; spindle pole; INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene 4 4 4 q34 172530576 172583267 + 175204828 175255506 + 174283677 174333380 + 737633;6480464 12477932 11214970;14702039;15174051;16189514;16344560;21139048;21399614;21906983;22505724;24722188 80817 D6RBX1;D6RC25;D6RGX6;Q9C0F1 AB051499;ABBA01070387;ABBA01070388;AC097653;AC116616;AK094961;AK292484;AL699124;AMYH02010527;AMYH02010528;AY426674;BC038667;BC045590;CH471056;DA347369;DB211405;NM_001040157;NM_001145314;XM_005263250;XM_006714327;XM_006714328;XR_427549 AAH38667;AAR88428;BAB21803;BAF85173;BAG52965;EAX04738;EAX04739;EAX04740;NP_001035247;NP_001138786;Q9C0F1;XP_005263307;XP_006714390;XP_006714391 Hs.555989 1666688;1690532;1767792;1776052;1785068;2136220;5015861;5016346;7185938 A007I47;D10S16;RH99078;SHGC-154726;SHGC-59571;SHGC-67365;SHGC-68045;WI-15112 KIAA1712;PS1TP3 HBV PreS1-transactivated protein 3;OTTHUMP00000218896;OTTHUMP00000218897;OTTHUMP00000218898;centrosomal protein of 44 kDa APPROVED protein-coding ENSG00000164118 HGNC:29356 13885 VALIDATED 1346248 CEP41 centrosomal protein 41kDa This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 7 7 7 q32 124832140 124876628 - 130033612 130081051 - 130393771 130441210 - 1580863;6480464;8699517;7240710;8554872 12034494;12477932;12690205;14654843;14702039;15489334;16344560;16712791;19946888;20301500;20301743;21438139;22246503;22456293;24816145 95681 C9IZ34;C9J6R3;C9J9X8;C9JCX6;C9JXA0;F8WAV3;F8WF85;Q9BYV8 ABBA01057588;AC007938;AF429308;AF429309;AJ278890;AK026098;AK298618;AK311382;AK314676;AL359617;AMYH02016752;AMYH02016753;AMYH02016754;AMYH02016755;AY186739;BC018789;BC047500;BC056162;CB155730;CH236950;CH471070;DB069500;KF458606;NG_032164;NM_001257158;NM_001257159;NM_001257160;NM_018718;NR_046443 AAH56162;AAM43959;AAM43960;AAO31692;BAB15359;BAG37230;BAG60797;CAB94886;CAC33567;EAL24088;EAW83764;NP_001244087;NP_001244088;NP_001244089;NP_061188;Q9BYV8 Hs.368315 1656071;1666427;1676190;1676308;1775145;2107721;2123098;2144782;2171960;2173055;2185341;5015619;5015861;5015879;5020740;5022200;5022578;5037552;7185938 D10S16;D11S3114;D1S1423;D7S1861;D7S1958;D7S2107E;D7S2396;D7S2948;D8S2279;GDB:314949;GDB:3755043;L17809;L18426;RH92008;RH93033;SHGC-30423;TSGA14__5148;WI-14634 DKFZp762H1311;JBTS15;TSGA14 OTTHUMP00000212490;OTTHUMP00000212519;OTTHUMP00000212521;centrosomal protein 41 kDa;centrosomal protein of 41 kDa;testis specific protein A14;testis specific, 14;testis-specific gene A14 protein APPROVED protein-coding ENSG00000106477 HGNC:12370 15574 610523;614464 REVIEWED 1602500 CEP57 centrosomal protein 57kDa This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 11 q21 92822024 92864242 + 95523625 95565857 + 95790461 95832693 + 6480464;8699517;7240710;8554872 10942595;11076968;12221128;12421765;12477932;12717444;12852856;12954732;14654843;14702039;15489334;15607035;16344560;16462731;18029348;19322201;19804566;19913121;20195357;20628086;21306487;21552266;21832049;21890473;21906983;22190034;22505724;22508265;23000965;23243019;23333316;23443559;23569207;23752268;24390342;24457600;7788527;7790358 9702 F5GXS6;F5GYW0;F5GZ93;F5H0C6;F5H1B0;F5H6R3;F5H7J4;H0YFT8;H0YGT4;Q86XR8 AA730219;ABBA01040009;AK098647;AK125164;AK291245;AK293277;AMYH02025385;AP001877;AY225092;AY239292;BC001233;BC009053;BC029385;BC031048;BC039711;BG699097;CH471065;D42054;DB032301;NG_029829;NM_001243776;NM_001243777;NM_014679;XM_006718945;XM_006718946 AAH01233;AAH29385;AAH39711;AAO73938;AAP72184;BAA07654;BAF83934;BAG56806;EAW66965;EAW66966;EAW66967;EAW66968;EAW66969;EAW66970;NP_001230705;NP_001230706;NP_055494;Q86XR8;XP_006719008;XP_006719009 Hs.101014 1662700;1665135;1686804;2117393;2148778;2169116;5109713 D11S2230E;D11S4333;RH25320;RH36085;STS-AA021450;STS-D42054;WI-21801 KIAA0092;MVA2;PIG8;TSP57 FGF2-interacting protein;OTTHUMP00000236690;OTTHUMP00000236691;OTTHUMP00000236698;centrosomal protein of 57 kDa;proliferation-inducing protein 8;testis-specific protein 57;translokin APPROVED protein-coding ENSG00000166037 HGNC:30794 16261 607951;614114 REVIEWED 1313311 CEP55 centrosomal protein 55kDa INVOLVED IN establishment of protein localization; mitotic cytokinesis; FOUND IN centrosome; membrane; midbody; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 10 10 10 q23.33 88997538 89030019 + 95256369 95288849 + 93496612 93529094 + 6480464 12477932;14702039;15164054;15489334;16189514;16198290;16344560;16385451;16406728;16790497;17081983;17207965;17237822;17556548;17853893;18641129;18940611;18948538;19525975;19609239;19638580;19855176;19946888;20176808;20360068;20400365;21079244;21139048;21163940;21890473;21906983;21909099;22184120;22505724;22591637;22771033;23383273;23443559;24163370;24244333;24390615;8125298 55165 H0Y432;Q53EZ4 AB091343;ABBA01021866;ABBA01021867;ABBA01021868;AK001402;AK223495;AK315536;AL356214;AMYH02023559;AY788918;BC008947;BX640718;CH471066;CS158015;CS588714;CS588716;CS588722;CS588730;DA545074;NM_001127182;NM_018131;XM_006717909 AAH08947;AAX14687;ADQ31821;BAA91670;BAD97215;BAE45243;BAG37915;CAE45837;CAJ29952;CAN87445;CAN87446;CAN87449;CAN87453;EAW50071;EAW50072;NP_001120654;NP_060601;Q53EZ4;XP_006717972 Hs.14559 1680956 RH80316 C10orf3;CT111;FLJ10540;URCC6 OTTHUMP00000020117;cancer/testis antigen 111;centrosomal protein of 55 kDa;up-regulated in colon cancer 6 protein-coding ENSG00000138180 HGNC:1161 12569 610000 VALIDATED 1347020 CEP57L1 centrosomal protein 57kDa-like 1 ENCODES a protein that exhibits gamma-tubulin binding (inferred); identical protein binding (inferred); microtubule binding (inferred); INVOLVED IN microtubule anchoring (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); INTERACTS WITH all-trans-retinoic acid; calcitriol; coumestrol 6 6 6 q21 110162263 110231004 + 109416329 109485115 + 109095134 109163912 + 6480464 12477932;14702039;15489334;16341674;16344560;17043677;17207965;19322201;20139978;21890473;23535732;24250222;24722188 285753 E5RFY4;E5RG21;E5RG82;E5RGP2;E5RGU5;E5RH23;E5RHF8;E5RI49;E5RIK8;E5RIV2;E5RJG4;E5RJH1;E5RJP9;E5RK85;G3V140;H0YB52;Q5T6A0;Q6P2R3;Q8IYX8 AA761530;ABBA01026136;ABBA01026137;AK092723;AK289910;AL355305;AMYH02014277;BC033448;BC064365;BM787514;BQ267680;BX093163;CH471051;DB204503;DB522144;NM_001083535;NM_001271852;NM_001271853;NM_173830;XM_005266935;XM_005266936;XM_005266937;XM_005266938;XM_006715461;XM_006715462 AAH33448;AAH64365;ADQ32441;BAF82599;EAW48361;EAW48362;EAW48363;EAW48364;EAW48365;EAW48366;NP_001077004;NP_001258781;NP_001258782;NP_776191;Q8IYX8;XP_005266992;XP_005266993;XP_005266994;XP_005266995;XP_006715524;XP_006715525 Hs.632616 1723185;1750623;1768803;2182725 RH118418;SHGC-111913;STS-AA027059;STS-N30830 C6orf182;MGC21731;MGC70837;bA487F23.2;cep57R OTTHUMP00000016948;OTTHUMP00000016949;OTTHUMP00000225749;OTTHUMP00000225768;OTTHUMP00000225769;OTTHUMP00000225799;centrosomal protein 57kDa-like protein 1;centrosomal protein CEP57L1;centrosomal protein of 57 kDa-related protein;cep57-related protein APPROVED protein-coding ENSG00000183137 HGNC:21561 10792 VALIDATED 1322775 CEP57L1P1 centrosomal protein 57kDa-like 1 pseudogene 1 10 10 10 q22.1 65429132 65430386 + 72149122 72150376 + 70389366 70390620 + 221017 ABBA01019624;AC022532;AMYH02023287;CH471083;NG_005976 EAW54398 C10orf37;C6orf182P chromosome 10 open reading frame 37 APPROVED pseudo HGNC:23521 INFERRED 1602096 CEP63 centrosomal protein 63kDa This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 3 3 3 q22.2 132630858 132719766 + 134204575 134293855 + 134485733 134575013 + 6480464;8699517;7240710;8554872 11076968;11329013;12221128;12477932;12812986;12852856;14654843;14702039;15489334;16189514;16344560;16410684;16462731;17043677;17207965;18391952;19266077;20301772;20360068;20546612;20846217;21406398;22555018;23333316;23936128;24240477;24250222;24722188;7790358 80254 D6R9Q4;D6RAY6;H0Y900;H0YAE6;H0YAL1;Q96MT8 AA746981;ABBA01059154;ABBA01059155;AC010207;AC026117;AC109912;AC139764;AF113697;AK023448;AK023738;AK054897;AK056465;AK123837;AMYH02007722;BC014050;BC068997;BG182631;BI561425;BK005503;BX499930;CH471052;CX751767;DB011963;N36992;NG_032870;NM_001042383;NM_001042384;NM_001042400;NM_025180;XM_005247795;XM_005247797;XM_005247799;XM_006713759;XM_006713760;XM_006713761;XM_006713762;XM_006713763;XM_006713764;XM_006713765;XM_006713766 AAH14050;AAH68997;ADQ31770;BAB14578;BAB14662;BAB71192;DAA05503;EAW79136;EAW79137;EAW79138;EAW79139;EAW79140;EAW79141;EAW79142;NP_001035842;NP_001035843;NP_001035859;NP_079456;Q96MT8;XP_005247852;XP_005247854;XP_005247856;XP_006713822;XP_006713823;XP_006713824;XP_006713825;XP_006713826;XP_006713827;XP_006713828;XP_006713829 Hs.443301 1679864;1685630;1693642;1695324;1699076;1857825;2123449;5015881 D3S3896;GDB:335751;RH103114;RH91512;RH93637;SHGC-32557;SHGC-58555;SHGC-64746 FLJ13386;MGC78416;SCKL6 OTTHUMP00000216301;OTTHUMP00000216302;OTTHUMP00000216303;OTTHUMP00000216304;centrosomal protein of 63 kDa;centrosome protein CEP63 APPROVED protein-coding ENSG00000182923 HGNC:25815 07826 614724;614728 REVIEWED 1601960 CEP70 centrosomal protein 70kDa INVOLVED IN G2/M transition of mitotic cell cycle (inferred); mitotic cell cycle (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; cytoplasm; nuclear membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 3-methylcholanthrene; aflatoxin B1 3 3 3 q22.3 136638100 136738061 - 138213186 138313187 - 138494339 138594383 - 6480464;8554872 11076968;12221128;12477932;12852856;14654843;14702039;15489334;16189514;16462731;16713569;18029348;19060904;20734064;21078624;21795687;21900206;21906983;22427462;22505724;23443559;23455924;24722188;7790358;8125298 80321 B7Z2D2;C9J0F4;C9J710;C9J966;C9JZ04;H7C4Y6;Q8NHQ1 ABBA01059091;AC020890;AC022497;AC072045;AF202146;AF289495;AK023098;AK225440;AK294587;AK295866;AK299003;AK301913;AK314314;AMYH02007770;BC016050;BC030598;BF435951;BM908227;BU634409;BX331994;CH471052;DC305447;DN993112;NM_001288964;NM_001288965;NM_001288966;NM_001288967;NM_024491;XM_005247802;XM_005247803;XM_005247804;XM_005247805;XM_005247806;XM_005247809;XM_005247810;XM_005247812;XM_006713767 AAG35616;AAG35791;AAH16050;AAH30598;BAB14403;BAH11818;BAH12209;BAH12924;BAH13584;EAW79060;EAW79061;EAW79062;EAW79063;NP_001275893;NP_001275894;NP_001275895;NP_001275896;NP_077817;Q8NHQ1;XP_005247859;XP_005247860;XP_005247861;XP_005247862;XP_005247863;XP_005247866;XP_005247867;XP_005247869;XP_006713830 Hs.531962 1340146;1697290;1784808;7185164 D2S304;RH102142;SHGC-155251 BITE;FLJ13036 OTTHUMP00000216889;OTTHUMP00000216891;OTTHUMP00000216892;OTTHUMP00000216893;OTTHUMP00000216896;centrosomal protein of 70 kDa;p10-binding protein protein-coding ENSG00000114107 HGNC:29972 16779 614310 VALIDATED 1319252 CEP68 centrosomal protein 68kDa ENCODES a protein that exhibits protein domain specific binding; protein kinase binding; INVOLVED IN centriole-centriole cohesion; centrosome organization; protein localization to organelle; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; INTERACTS WITH acetylsalicylic acid; aflatoxin B1; all-trans-retinoic acid 2 2 2 p14 65129881 65160529 + 65283495 65314142 + 65056361 65087008 + 6480464;8554872 12107410;12168954;12477932;14654843;14702039;15489334;15815621;17194215;17570516;18042621;18854154;21072201;21890473;22792062;23000965;24722188;9628581;9847074 23177 Q5HYA6;Q76N32 AB011154;ABBA01075429;ABBA01075430;ABBA01075431;AC007318;AC007386;AC084278;AK000856;AK093846;AK094069;AK098786;AK299373;AK301173;AK304110;AMYH02003973;BC002982;BC004873;BC030534;BX648774;CA398160;CH471053;NM_015147;XM_005264218;XM_005264219 AAF03518;AAH02982;AAH04873;AAH30534;AAY14962;BAA25508;BAG61363;BAG62760;BAG65012;CAI46022;EAW99926;EAW99927;EAW99928;EAW99929;NP_055962;Q76N32;XP_005264275;XP_005264276 Hs.709257 1649003;1658020;1661197;1784266;1855304;2114228;2139282;2146254;2146256;5037552;5096009 A005C28;D8S2279;G20274;RH18462;RH36094;RH66231;RH78511;SHGC-172313;SHGC-32096;WI-13176;WIAF-2140 FLJ25920;FLJ36750;KIAA0582 OTTHUMP00000159934;OTTHUMP00000159935;centrosomal protein of 68 kDa protein-coding ENSG00000011523 HGNC:29076 13808 VALIDATED 1603993 CEP72 centrosomal protein 72kDa The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008] 5 5 5 p15.33 708943 749747 + 612405 655807 + 612290 655692 + 6480464;8554872 10819331;11076968;12168954;12221128;12477932;12852856;14654843;14702039;15489334;16189514;16462731;17081983;19447967;19536135;20090771;20228799;21078624;21890473;21963094;22797925;23251661;23443559;24250222;24255178;7790358 55722 Q9P209 AB040952;ABBA01034252;AC026740;AC106772;AK001427;AK299072;AMYH02010756;BC000132;BC001750;BG718176;CH471235;NM_018140;XM_005248321;XM_005248322;XM_005248323 AAH00132;AAH01750;BAA91685;BAA96043;BAG61138;EAW51011;EAW51012;EAW51013;NP_060610;Q9P209;XP_005248378;XP_005248379;XP_005248380 Hs.591741 2154808 WI-21058 FLJ10565;KIAA1519;MGC5307 OTTHUMP00000220686;centrosomal protein of 72 kDa APPROVED protein-coding ENSG00000112877 HGNC:25547 07685 REVIEWED 1313060 CEP76 centrosomal protein 76kDa This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 18 18 18 p11.21 12555434 12585508 - 12661748 12702776 - 12661753 12702777 - 737633;6480464 12477932 11076968;12221128;12852856;14654843;14702039;15489334;16189514;16462731;16713569;18071751;19460342;20360068;21139048;21145461;22261722;22441691;23443559;24722188;7790358 79959 B4DP81;K7EII2;K7EIV8;K7EP44;K7EPF5;Q8TAP6 ABBA01074026;ABBA01074027;ABBA01074028;AK022604;AK298223;AK301964;AK303117;AL833727;AMYH02034337;AP005482;BC026307;BC033026;BX505397;CH471113;DA476378;EF445040;NM_001271989;NM_024899;NR_073537;XM_005258149;XM_005258150;XM_006722356;XM_006722357 AAH26307;ACA06091;BAB14123;BAG60493;BAG63377;BAG64223;CAH56252;EAX01543;NP_001258918;NP_079175;Q8TAP6;XP_005258206;XP_005258207;XP_006722419;XP_006722420 Hs.236940 1647229;1675933;5016478;5020948;5022578;5024756;5109281 D1S1423;D1S1425;G35510;GDB:434012;RH80030;RH80113;SHGC-36933 C18orf9;FLJ12542;HsT1705 OTTHUMP00000162484;centrosomal protein of 76 kDa protein-coding ENSG00000101624 HGNC:25727 12694 REVIEWED 1346976 CEP78 centrosomal protein 78kDa INVOLVED IN G2/M transition of mitotic cell cycle (inferred); mitotic cell cycle (inferred); FOUND IN centrosome; INTERACTS WITH all-trans-retinoic acid; calcitriol; copper atom 9 9 9 q21.2 51428255 51459253 + 80850978 80886799 + 78236062 78271883 + 737633;6480464 12477932 11076968;12221128;12852856;14654843;14702039;16344560;16462731;18654987;20360068;20562859;21139048;21890473;22505724;23000965;23443559;24778252;24816145;7790358 84131 A8MST6;Q5JTW2 ABBA01033943;AK022705;AK303457;AL353705;AMYH02021048;AMYH02021049;BC058931;BC091515;BC128058;CA429071;DA970400;NM_001098802;NM_032171;XM_005252263;XM_005252264;XM_005252265;XM_005252266 AAH91515;AAI28059;BAB14190;BAH13965;NP_001092272;NP_115547;Q5JTW2;XP_005252320;XP_005252321;XP_005252322;XP_005252323 Hs.374421 1651464;1657891;2141185 A008B24;D9S1980;RH78042 C9orf81;FLJ12643;FLJ52093;IP63;MGC135040 OTTHUMP00000021520;OTTHUMP00000021521;OTTHUMP00000021522;OTTHUMP00000021523;OTTHUMP00000240118;centrosomal protein of 78 kDa protein-coding ENSG00000148019 HGNC:25740 VALIDATED 1606008 CEP83 centrosomal protein 83kDa INVOLVED IN cilium assembly; protein localization to centrosome; vesicle docking; ASSOCIATED WITH Cholestasis (inferred); Hydrocephalus (inferred); Intellectual disability (inferred); FOUND IN centriole; ciliary transition fiber; Golgi apparatus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 12 12 12 q22 94373316 94525023 - 94702056 94853764 - 94277758 94459988 - 6480464;8699517;7240710;8554872 10508479;12477932;12586822;14702039;15489334;16344560;23314748;23348840;23518928;23530209;24882706;8889548 51134 F8VYN8;H0YHH5;J3KNW7;Q3B787;Q9Y592 ABBA01053364;AC068779;AC073655;AF155115;AK056316;AL705616;AMYH02026953;BC011009;BC032943;BC053614;BC107746;BC125086;BC125087;BU608784;CH471054;DA440413;DB449066;LN608455;NM_001042399;NM_016122;XM_005268942;XM_006719437;XR_429106 AAD42881;AAI07747;AAI25087;AAI25088;EAW97501;EAW97502;EAW97503;EAW97504;EAW97505;NP_001035858;NP_057206;Q9Y592;XP_005268999;XP_006719500 Hs.279209 1337714;1651019;1654262;1698668;1746147;1746153;1756655;1767074;2123456;2129156;2166342;7186838 B311WC5;D12S1881;D12S327;G64442;G64527;RH102893;RH46348;RH48574;RH48920;SHGC-143711;SHGC-54537 CCDC41;MGC149726;NPHP18;NY-REN-58 NY-REN-58 antigen;OTTHUMP00000243334;OTTHUMP00000243335;OTTHUMP00000243336;centrosomal protein of 83 kDa;coiled-coil domain containing 41;coiled-coil domain-containing protein 41;renal carcinoma antigen NY-REN-58 APPROVED protein-coding ENSG00000173588 HGNC:17966 14869 615847;615862 VALIDATED 7244507 CEP83-AS1 CEP83 antisense RNA 1 (head to head) 12 12 12 q22 94525038 94527605 + 94853779 94856346 + 94460003 94462570 + 12477932;14702039 144486 ABBA01053364;AC068779;AK057269;AMYH02026953;BC035086;BC044616;NR_027035 Hs.118205 CCDC41-AS1 APPROVED ncrna ENSG00000278916 HGNC:27055 VALIDATED 1604312 CEP85 centrosomal protein 85kDa This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 1 1 1 p36.11 24957025 25001637 + 26560644 26605529 + 26234153 26279038 + 6480464 12477932;14702039;15489334;16344560;16710414;16751776;18985028;19460752;21044950;21906983;22895009;23251661;24250222;24255178;24816145 64793 H7BZW2;Q6P2H3 ABBA01034901;ABBA01034902;AK024038;AK025653;AK299312;AL133609;AL137420;AL355877;AL451139;AMYH02000557;AMYH02000558;AMYH02000559;AMYH02000560;BC019902;BC064528;BQ951443;CH471059;DA666742;DB079544;DC403437;NM_001281517;NM_001281518;NM_022778;XM_005245969;XM_006710822;XM_006710823 AAH19902;AAH64528;BAB14794;BAB15203;BAG61323;CAB63740;CAB70730;EAX07833;EAX07834;EAX07835;EAX07836;NP_001268446;NP_001268447;NP_073615;Q6P2H3;XP_005246026;XP_006710885;XP_006710886 Hs.109051;Hs.63795 1682678;1695650;1696042;1697500;1733016;1750337;1756443;1765155 D1S1380;RH102252;RH79742;SHGC-112519;SHGC-143444;SHGC-148673;SHGC-78690;SHGC-83195 CCDC21;DKFZp434L0117;DKFZp434P232;FLJ13976;FLJ22000 OTTHUMP00000003454;OTTHUMP00000003455;OTTHUMP00000003456;centrosomal protein of 85 kDa;coiled-coil domain containing 21;coiled-coil domain-containing protein 21 APPROVED protein-coding ENSG00000130695 HGNC:25309 07844 REVIEWED 1346539 CEP85L centrosomal protein 85kDa-like The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 6 6 6 q22 119525226 119775770 - 118781935 119031238 - 118460772 118710075 - 6480464;8554872 12477932;12747765;19305408;19584346;19615732;20379614;20639392;21890473;21938754;22010048;22558309;23166209;23463857;8619474;9110174 387119 A2A3P3;Q3ZCQ5;Q5SZL2 ABBA01026026;ABBA01026027;ABBA01026028;AF131811;AF308284;AK302591;AL133101;AL359634;AL390069;AL589993;AMYH02014368;AMYH02014369;AMYH02014370;AMYH02014371;AMYH02014372;AY313778;BC036553;BC045657;BC048977;BC052778;BC064835;BC110835;BC126140;BC126142;CH471051;NG_021248;NM_001042475;NM_001178035;NM_206921;XM_005266970;XM_005266971;XM_005266972;XM_006715475;Z99496 AAG48252;AAH48977;AAH52778;AAI10836;AAI26141;AAI26143;AAI48460;AAI53055;AAP81009;BAG63844;EAW48196;EAW48197;NP_001035940;NP_001171506;NP_996804;Q5SZL2;XP_005267027;XP_005267028;XP_005267029;XP_006715538 Hs.656959 1684459;1696386;1705912;1714713;1735290;1735598;1753485;1777872;2137859;2164696;2178816 D12S1288;D12S1940;D3S2934E;D6S1145E;D6S1147E;RH120021;RH93170;SHGC-107437;SHGC-35059;SHGC-77838;SHGC-78085 C6orf204;MGC131785;NY-BR-15;RP11-57K17.2;bA57K17.2 OTTHUMP00000017094;OTTHUMP00000194463;OTTHUMP00000194465;centrosomal protein of 85 kDa-like;coiled-coil domain-containing protein C6orf204;hypothetical protein LOC387119;serologically defined breast cancer antigen NY-BR-15 APPROVED protein-coding ENSG00000111860 HGNC:21638 12874 VALIDATED 1601939 CEP95 centrosomal protein 95kDa FOUND IN centrosome; spindle pole; INTERACTS WITH cyclosporin A; ethyl methanesulfonate; formaldehyde 17 17 17 q23.3 56973297 57004350 + 62502878 62534069 + 64506760 64537951 + 6480464 12477932;14702039;15231747;15489334;20379614;20936779;21399614;21890473;21906983;22505724;24324551 90799 B7ZAE2;H0YJW6;J3KRC3;J3KRW3;J3KS50;J3KST6;J3QLG4;K7ENV0;Q96GE4 ABBA01035294;ABBA01035295;ABBA01035296;AC009994;AC138744;AK057326;AK290587;AK297409;AK316257;AL832822;AMYH02033792;BC009518;BC029461;CH471109;NM_138363;XM_005257777;XM_005257778;XM_005257779;XM_005257780;XM_005257781;XM_005257782;XM_005257783;XM_006722166;XM_006722167;XR_243685;XR_243686 AAH09518;BAB71428;BAF83276;BAG59844;BAH14628;CAI46165;EAW94196;EAW94197;EAW94198;EAW94199;EAW94200;NP_612372;Q96GE4;XP_005257834;XP_005257835;XP_005257836;XP_005257837;XP_005257838;XP_005257839;XP_005257840;XP_006722229;XP_006722230 Hs.569713 1658519;1783638;2130303;2130305;2176818 A001T18;G19625;RH12897;SHGC-172969;WI-20077 CCDC45;DKFZp667E1824 centrosomal protein of 95 kDa;coiled-coil domain containing 45;coiled-coil domain-containing protein 45 APPROVED protein-coding ENSG00000258890 HGNC:25141 11279 PROVISIONAL 1343045 CEP97 centrosomal protein 97kDa ENCODES a protein that exhibits calmodulin binding (inferred); INVOLVED IN cell projection organization (inferred); FOUND IN centrosome; cytoplasm; microtubule organizing center; INTERACTS WITH methyl methanesulfonate; paracetamol; valproic acid 3 3 3 q12.3 99836584 99879276 + 101443436 101489404 + 101724193 101770560 + 737633;6480464 12477932 14702039;15489334;17719545;18029348;18068367;19460342;19596235;19875381;20360068;21139048;22261722;22441691;23443559;23486064;23602568;25036637;8125298 79598 E9PG22;F8WF91;H7C4Y5;Q8IW35 ABBA01061768;ABBA01061769;AC084198;AK026700;AK093100;AK225573;AK294784;AK309806;AL833269;AMYH02007317;BC041085;CH471052;NM_024548;XM_005247759;XM_006713743 AAH41085;BAB15531;BAC04055;BAG57909;EAW79777;EAW79778;NP_078824;Q8IW35;XP_005247816;XP_006713806 Hs.444135 1667205;1787818;2121716;5015404;5022450 D10S275;L17705;SGC33242;SHGC-173283;SHGC-77158 2810403B08Rik;FLJ23047;FLJ26462;LRRIQ2 OTTHUMP00000214225;OTTHUMP00000214249;centrosomal protein of 97 kDa;leucine-rich repeat and IQ domain-containing protein 2;leucine-rich repeats and IQ motif containing 2 protein-coding ENSG00000182504 HGNC:26244 08014 615864 PROVISIONAL 1352373 CEPA congenital episodic primary apnea 1064 HGNC:1860 1605924 CEP89 centrosomal protein 89kDa INVOLVED IN cilium assembly; FOUND IN centriole; centrosome; ciliary transition fiber; INTERACTS WITH hydrogen peroxide; lead(0); lead(2+) 19 19 19 q13.11 30063528 30156461 - 33369904 33462930 - 32878998 32972024 - 6480464 12477932;14702039;16395595;18029348;20383145;21139048;21890473;21906983;23575228;24255178 84902 K7EJF0;K7EPU8;K7EQI2;Q96ST8 ABBA01039604;ABBA01039605;ABBA01039606;AC008805;AC011449;AC119048;AK027546;AL832158;AMYH02035929;AMYH02035930;BC020195;BC029978;BC032307;BC136328;BE208545;BU196203;BU628988;BU630455;NM_032816;XM_005259344;XM_005259345;XM_005259346 AAH20195;AAH32307;AAI36329;BAB55190;NP_116205;Q96ST8;XP_005259401;XP_005259402;XP_005259403 Hs.599703 1335734;1685536;1712058;1712060;1722869;1777248 D19S868;G54009;G54010;G60527;RH93152;SHGC-7102 CCDC123;CEP123;FLJ14640 centrosomal protein 123;centrosomal protein of 89 kDa;coiled-coil domain containing 123;coiled-coil domain-containing protein 123;coiled-coil domain-containing protein 123, mitochondrial APPROVED protein-coding ENSG00000121289 HGNC:25907 08601 615470 VALIDATED 1345389 CEPT1 choline/ethanolamine phosphotransferase 1 Cholinephosphotransferase catalyses the final step in the synthesis of phosphatidylcholine by the transfer of phosphocholine from CDP-choline to diacylglycerol. The synthesis of phosphatidylethanolamine by ethanolaminephosphotransferase occurs using an analogous reaction. This gene codes for a choline/ethanolaminephosphotransferase. The protein can synthesize either choline- or ethanolamine- containing phospholipids. Two alternatively spliced transcripts encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 109929250 109974702 + 111682249 111727724 + 111139627 111185104 + 1580863;6480464;6907045 10191259;12216837;12477932;14702039;17207965;17314511;19322201;20379614;21139048;22001757 10390 B3KN25;Q9Y6K0 ABBA01068396;AF068302;AF138862;AK023381;AL355816;AL832104;AL833102;AMYH02001726;BC032610;BC049196;BX487092;CH471122;NM_001007794;NM_006090;XM_005270353;XM_006710285;XM_006710286 AAD25170;AAF61194;AAH32610;AAH49196;ADQ31816;BAG51187;CAH10403;EAW56469;EAW56470;EAW56471;EAW56472;NP_001007795;NP_006081;Q9Y6K0;XP_005270410;XP_006710348;XP_006710349 Hs.363572;Hs.636850 1660341;1661296;1664449;1675836;1700834;1717189;1760199;2108723;2114430;2149379;2158293;2164327;5015861;5019070;5109525;7185938 A008Y23;CEPT1_9100;D10S16;D1S1745E;D1S2245;G44334;RH104042;RH121517;RH16277;RH92216;SGC33701;SHGC-132479;SHGC-32833;SHGC-75292;SHGC-75316 DKFZp313G0615;MGC45223;hCEPT1 OTTHUMP00000014300;choline/ethanolaminephosphotransferase;choline/ethanolaminephosphotransferase 1 APPROVED protein-coding ENSG00000134255 HGNC:24289 13024 REVIEWED 1312417 CERCAM cerebral endothelial cell adhesion molecule INVOLVED IN cell adhesion; FOUND IN endoplasmic reticulum (inferred); INTERACTS WITH cadmium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2-butoxyethanol (ortholog) 9 9 9 q34.11 101833666 101850533 + 131173854 131199630 + 128411575 128437351 + 1580863;6480464 10608765;10819331;12477932;21890473;21963094;21987572;22268729;23097496 51148 B4DNI4;B7ZBS8;B7ZBS9;B7ZBT0;Q5T4B2;X6RL83 AB040935;ABBA01043880;ABBA01043881;AF177203;AF218016;AK074519;AK074523;AK297929;AK307753;AK314294;AL359091;AMYH02021715;BC011811;BC098432;BC108698;BC119698;BC119699;BC152421;BX358794;CA447908;CH471090;CQ782450;CQ782458;CX871555;NM_001286760;NM_016174;XM_005252035;XM_005252037;XM_006717137 AAD51367;AAG17258;AAH11811;AAH98432;AAI08699;AAI19699;AAI19700;BAA96026;BAC11036;BAC11040;BAG60246;CAF85736;CAF85744;EAW87787;EAW87788;EAW87789;EAW87790;NP_001273689;NP_057258;Q5T4B2;XP_005252092;XP_005252094;XP_006717200 Hs.495230 1771490;5491254 MARC_6507-6508:992007256:1;SGC34509 CEECAM1;GLT25D3;MGC149620;MGC149621 OTTHUMP00000022267;OTTHUMP00000022269;cerebral cell adhesion molecule;cerebral endothelial cell adhesion molecule 1;glycosyltransferase 25 domain containing 3;glycosyltransferase 25 family member 3;probable inactive glycosyltransferase 25 family member 3 protein-coding ENSG00000167123 HGNC:23723 16705 VALIDATED 1347243 CER1 cerberus 1, DAN family BMP antagonist This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008] 9 9 9 p23-p22 14653168 14656152 - 14719731 14722715 - 14719733 14722717 - 1580863;6480464;6484113;6907045 10049596;12477932;15164053;15340161;15489334;15621726;16798745;17029022;17207965;18452192;19113921;19390575;19453261;19789190;22543871;23717584;24138842;9501024;9660951 9350 O95813;Q3SY34 ABBA01065297;AF090189;AF400435;AL390732;AMYH02019198;BC069371;BC069405;BC069491;BC069503;BC103976;BC103977;BU071333;CD652441;CH471071;NM_005454 AAD19879;AAH69371;AAH69405;AAH69491;AAH69503;AAI03977;AAI03978;AAK92484;ADQ32905;EAW58691;NP_005445;O95813 Hs.248204 DAND4;MGC119894;MGC119895;MGC96951 DAN domain family member 4;OTTHUMP00000022757;cerberus;cerberus 1 homolog, cysteine knot superfamily (xenopus laevis);cerberus 1, cysteine knot superfamily, homolog;cerberus-related 1;cerberus-related protein APPROVED protein-coding ENSG00000147869 HGNC:1862 04802 603777 REVIEWED 1312799 CERK ceramide kinase CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008] 22 22 22 q13.31 30995999 31049854 - 47080307 47134152 - 46684410 46738255 - 1580863;6480464;6907045 10591208;10947957;11258795;11956206;12477932;12855693;14769792;15461802;15489334;15899891;16081073;16170208;16269826;16488390;17274985;17392267;17957442;18029348;18156590;18662741;19125296;19501188;19778898;20877624;21139048;21255156;21621503;21832049;21906983;22230689;22579669;9837889 64781 F8WFD8;Q6NX59;Q8TCT0 AB051433;AB079066;ABBA01010461;ABBA01010462;ABBA01010463;AJ457828;AK025083;AK026892;AK291476;AL096766;AL118516;AL137600;AL832794;AMYH02038540;BC004278;BC008382;BC067255;BC108712;BC126940;BQ710170;BU187541;CH471138;CR456404;CR457365;NM_022766 AAH04278;AAH67255;AAI08713;AAI26941;BAB15585;BAB33316;BAC01154;BAF84165;CAD29884;CAG30290;CAG33646;CAK54380;CAK54679;EAW73438;EAW73439;EAW73440;EAW73441;EAW73442;NP_073603;Q8TCT0 Hs.200668 1715827;1721229;2153298;5019887 A007D26;G54699;G59458;RH119610 DKFZp434E0211;FLJ21430;FLJ23239;KIAA1646;LK4;MGC131878;dA59H18.2;dA59H18.3;hCERK OTTHUMP00000197262;acylsphingosine kinase;lipid kinase 4;lipid kinase LK4 APPROVED protein-coding ENSG00000100422 HGNC:19256 09878 610307 VALIDATED 1346381 CERKL ceramide kinase-like This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010] 2 2 2 q31.3 175997484 176117888 - 182401399 182521834 - 181536672 181657107 - 1600829;6480464;7240710;8554872;8699517 14681825 11956206;12477932;14702039;15708351;16581028;18055789;18515597;18519826;18521091;18978954;19158957;19501188;19578027;19667359;19913121;20301590;20379614;20591486;20628086;20677014;20801516;21508105;21738480;24023788;24735978;8889548;9507394 375298 Q49MI3;Q5DVJ3 ABBA01062288;ABBA01062289;AC013733;AC020595;AJ640141;AJ697855;AJ697856;AJ697858;AK129976;AK293844;AMYH02005357;AMYH02005358;AY357073;AY690329;AY690330;AY690331;AY690332;AY690333;BC137498;BC137499;BM969366;CH471058;HQ426666;HQ426667;HQ426668;HQ426669;HQ426670;HQ426671;HQ426672;HQ426673;HQ426674;HQ426675;HQ426676;HQ426677;HQ426678;HQ426679;JF290420;KF456747;NG_021178;NM_001030311;NM_001030312;NM_001030313;NM_001160277;NM_201548;NR_027689;NR_027690 AAI37499;AAI37500;AAR13670;AAW47988;AAW47989;AAW47990;AAW47991;AAW47992;AEC33276;AEK85686;AEK85687;AEK85688;AEK85689;AEK85690;AEK85692;AEK85693;AEK85694;AEK85695;AEK85696;AEK85697;AEK85698;AEK85699;AEK85700;BAC85266;BAG57242;CAG26695;CAG26977;CAG26978;CAG26980;EAX10984;NP_001025482;NP_001025483;NP_001025484;NP_001153749;NP_963842;Q49MI3 Hs.732358 1727467;1748349;1848962;2149777 G35017;G62991;G66899;RH69434 RP26 OTTHUMP00000205490;OTTHUMP00000205491;OTTHUMP00000205492;OTTHUMP00000205494;OTTHUMP00000205495;ceramide kinase-like protein APPROVED protein-coding ENSG00000188452 HGNC:21699 09757 608380;608381 REVIEWED 1314323 CERS1 ceramide synthase 1 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. Members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in yeast suggest that the encoded protein is involved in aging. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2008] 19 19 19 p12 18884162 18911776 - 18979361 19007396 - 18868552 18896144 - 1580863;6480464;8554872 12105227;12477932;12869556;15057824;15317812;15489334;17548428;17699106;19393694;19800881;2034669;20569235;21890473;21900206;22180294;23160995;9872981 10715 B4DE47;M0R0T2;P27544;Q5XG75 ABBA01051294;ABBA01051295;AC003972;AC005197;AF105005;AF105009;AI671814;AK293463;AL120193;AMYH02035743;AMYH02035744;BC032615;BC084582;BF343384;BM925585;BX453803;CH471106;M62302;NG_012070;NG_033056;NM_001290265;NM_021267;NM_198207 AAA58500;AAB94786;AAC24611;AAD16892;AAH84582;BAG56958;EAW84745;EAW84746;NP_001277194;NP_067090;NP_937850;P27544 Hs.412355 1656803;1739657;2176109 A006H36;D19S842E;WI-14123 LAG1;LASS1;MGC90349;UOG1 LAG1 homolog, ceramide synthase 1;LAG1 homolog, ceramide synthase 1 (S. cerevisiae);LAG1 longevity assurance homolog 1;lag1 longevity assurance homolog 1 (s. cerevisiae);longevity assurance (LAG1, S. cerevisiae) homolog 1;longevity assurance gene 1 protein homolog 1;protein UOG-1;upstream of GDF1 APPROVED protein-coding ENSG00000223802 HGNC:14253 12114 606919 REVIEWED 1320742 CERS2 ceramide synthase 2 This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 124053344 124063135 - 150937649 150947479 - 150965173 150975003 - 6480464 11543633;12477932;14702039;15489334;16263699;16341674;16344560;17081983;17353931;18029348;18165233;18194600;19728861;19912991;19946888;20195357;20383146;20406683;20937905;21139048;21755371;21890473;21906983;21928351;21988832;22169644;22178826;22190034;22336162;22573553;22580606;22939629;22991218;23000965;23538298;23585552;23690971;24097068;24453046 29956 H0YKH6;H0YLQ6;H0YNU7;Q5SZE1;Q5SZE2;Q5SZE3;Q5SZE4;Q5SZE6;Q96G23 ABBA01049363;ABBA01049364;AF177338;AF189062;AK001105;AK290989;AL590133;AMYH02001869;AX083332;AY091458;BC001357;BC010032;BM069521;BM764143;BQ219926;BU543940;CH471121;DA019883;NM_022075;NM_181746;R94703;XM_005245107 AAF01058;AAG17982;AAH01357;AAH10032;AAM12028;ABZ92021;BAA91505;BAF83678;CAC33275;EAW53497;EAW53498;EAW53499;EAW53500;EAW53501;EAW53502;NP_071358;NP_859530;Q96G23;XP_005245164 Hs.744017 1673745;1771963;5017580 IB3045;LASS2;RH64627 FLJ10243;L3;LASS2;MGC987;SP260;TMSG1 LAG1 homolog, ceramide synthase 2;LAG1 longevity assurance 2;LAG1 longevity assurance homolog 2;OTTHUMP00000033028;OTTHUMP00000033029;OTTHUMP00000033030;OTTHUMP00000033031;lag1 longevity assurance homolog 2 (s. cerevisiae);longevity assurance (LAG1, S. cerevisiae) homolog 2;tumor metastasis-suppressor gene 1 protein APPROVED protein-coding ENSG00000143418 HGNC:14076 06080 606920 REVIEWED 1319080 CERS3 ceramide synthase 3 ENCODES a protein that exhibits DNA binding (inferred); sphingosine N-acyltransferase activity (inferred); INVOLVED IN ceramide biosynthetic process; keratinocyte differentiation; ASSOCIATED WITH Autosomal recessive inheritance (inferred); ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (inferred); Melanoma (inferred); FOUND IN endoplasmic reticulum membrane (inferred); integral component of membrane (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; progesterone (ortholog) 15 15 15 q26.3 77357728 77501799 - 100940600 101084925 - 100400395 100544786 - 1580863;6480464;8699517;7240710;8554872 12477932;15489334;18029348;20301593;20304771;23549421;23754960;23898208 204219 H0YMG6;H0YN05;Q8IU89 ABBA01020536;ABBA01020537;ABBA01020538;AC015723;AC027020;AK307191;AMYH02031158;AMYH02031159;AMYH02031160;AMYH02031161;BC027616;BC028703;BC034500;BC034970;CH471101;HY022150;NM_001290341;NM_001290342;NM_001290343;NM_178842;XM_006720432;XM_006720433;XM_006720434 AAH28703;AAH34500;AAH34970;ABM81825;ABW03297;EAX02267;EAX02268;EAX02269;NP_001277270;NP_001277271;NP_001277272;NP_849164;Q8IU89;XP_006720495;XP_006720496;XP_006720497 Hs.662371 1338391;1678977;1703876;1757501 D13S1236;RH92119;SHGC-144879;SHGC-79062 ARCI9;LASS3;MGC27091 LAG1 homolog, ceramide synthase 3;LAG1 longevity assurance homolog 3;OTTHUMP00000194816;OTTHUMP00000194817;dihydroceramide synthase 3 APPROVED protein-coding ENSG00000154227 HGNC:23752 13961 615023;615276 VALIDATED 1319578 CERS4 ceramide synthase 4 ENCODES a protein that exhibits DNA binding (inferred); sphingosine N-acyltransferase activity (inferred); INVOLVED IN ceramide biosynthetic process (inferred); small molecule metabolic process (inferred); sphingolipid biosynthetic process (inferred); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); integral component of membrane (inferred); INTERACTS WITH arsenous acid; cadmium atom; cisplatin 19 19 19 p13.2 8145624 8198703 + 8274217 8327305 + 8209329 8262421 + 1580863;6480464 12477932;14702039;15489334;16344560;20080650;21757428;23538298;8125298 79603 H0YKC9;H0YKR4;H0YKS3;H0YLY3;H0YMY6;H0YN04;H0YNR6;Q53HF9;Q9HA82 ABBA01010852;ABBA01010853;AC022146;AK022151;AK055414;AK222621;AK225394;AMYH02035424;AMYH02035425;BC009828;BC063621;CH471139;DA381485;NM_024552;XM_006722887;XM_006722888;XM_006722889;XM_006722890;XM_006722891;XM_006722892;XM_006722893;XM_006722894;XM_006722895;XM_006722896;XM_006722897;XM_006722898 AAH09828;ABM84141;ABM87543;BAB13972;BAD96341;EAW68940;EAW68941;EAW68942;EAW68943;EAW68944;EAW68945;NP_078828;Q9HA82;XP_006722950;XP_006722951;XP_006722952;XP_006722953;XP_006722954;XP_006722955;XP_006722956;XP_006722957;XP_006722958;XP_006722959;XP_006722960;XP_006722961 Hs.515111 1783826;2186329;2219894 D19S1023;LASS4__6374;SHGC-154453 FLJ12089;LASS4;Trh1 LAG1 homolog, ceramide synthase 4;LAG1 longevity assurance homolog 4;lag1 longevity assurance homolog 4 (s. cerevisiae) APPROVED protein-coding ENSG00000090661 HGNC:23747 13962 615334 VALIDATED 1323138 CERS5 ceramide synthase 5 This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 12 12 12 q13.12 49319058 49356938 - 50523581 50561154 - 50129306 50167533 - 1580863;6480464;8554872 12477932;15489334;16100120;16344560;16951403;17030510;17081983;18676372;20406683;21890473;22248339 91012 B4DQR7;F8VQZ6;F8VSK7;F8VXY1;F8VY42;F8W1K4;F8W1N7;F8W1Z3;H0YHG4;H0YHK2;H0YI10;H0YIG1;Q49AQ3;Q8N5B7 ABBA01031556;ABBA01031557;ABBA01031558;ABBA01031559;AC074032;AC139016;AK026014;AK027087;AK058033;AK294521;AK298924;AK300937;AMYH02026453;AMYH02026454;BC014637;BC032565;BC033558;CH471111;CQ834406;DA230084;HY016808;NM_001281731;NM_147190;NR_104035;XM_005269220;XM_006719687;XM_006719688;XR_429120 AAH32565;AAH33558;BAG57732;BAG61029;BAG62566;CAH05418;EAW58131;EAW58132;EAW58133;NP_001268660;NP_671723;Q8N5B7;XP_005269277;XP_006719750;XP_006719751 Hs.270525 1652582;1739945;1742593;1847006;1848960;1852728;2142668;2171133;5491507 A003A47;D12S1200E;D12S1425;D12S1566;GDB:197914;MARC_16364-16365:1017765966:1;NIB1689;RH44718;SHGC-57795 FLJ25304;LASS5;MGC45411;Trh4 LAG1 homolog, ceramide synthase 5;LAG1 longevity assurance homolog 5;OTTHUMP00000242205;OTTHUMP00000242777;OTTHUMP00000242778;lag1 longevity assurance homolog 5 (s. cerevisiae) APPROVED protein-coding ENSG00000139624 HGNC:23749 13963 615335 REVIEWED 1343383 CERS6 ceramide synthase 6 ENCODES a protein that exhibits DNA binding (inferred); sphingosine N-acyltransferase activity (inferred); INVOLVED IN ceramide biosynthetic process (inferred); small molecule metabolic process (inferred); sphingolipid biosynthetic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 q24.3 162921561 163239455 + 169312759 169631644 + 168456249 168775134 + 6480464;8554872 11329013;12477932;14702039;15489334;18615156;19723703;19912991;19946888;20103619;20379614;20406683;21890473;21906983;22013072;22544924;23519469;23538298;24816145;8889548 253782 Q6ZMG9 ABBA01004956;ABBA01004957;ABBA01004958;AC009475;AC019086;AC097453;AI521447;AK023042;AK024891;AK091391;AK123214;AK172775;AL080192;AMYH02005170;AMYH02005171;AMYH02005172;AMYH02005173;AMYH02005174;BC030800;BC109284;BC109285;BE745491;BG206657;BM968545;BX393696;GN344081;JA738779;KF456737;NM_001256126;NM_203463;U52135;XM_005246440 AAH30800;AAI09285;AAI09286;BAD18757;CAY55976;CCF77042;NP_001243055;NP_982288;Q6ZMG9;XP_005246497 Hs.506829;Hs.743222 1659632;1669812;1682175;1717781;1734760;1755075;1775517;1857270;2111324;2119202;2147375;2151388;2159534;2170320;2171667;2171669;2182181;2182255;2184592;2190807 A005N32;D2S1505E;D2S1544E;D2S1648E;D2S1737;D2S2127;D2S2660;G20356;HUM0S12B10;LOC253782;RH121800;RH16666;RH35853;RH68290;RH91148;SHGC-142010;SHGC-61991;WI-13837;WI-15844;WI-3728 CerS5;DKFZp434B102;LASS6;MGC129949;MGC129950 LAG1 homolog, ceramide synthase 6;LAG1 homolog, ceramide synthase 6 (S. cerevisiae);LAG1 longevity assurance homolog 6;OTTHUMP00000163046;OTTHUMP00000163047;lag1 longevity assurance homolog 6 (s. cerevisiae);longevity assurance homolog 6 APPROVED protein-coding ENSG00000172292 HGNC:23826 17258 615336 VALIDATED 1352960 CES1 carboxylesterase 1 This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 16 16 16 q22.2 40340608 40363542 - 55836763 55867098 - 55802851 55833186 - 1580863;6480464;6484672;7240710;8699517;8554872 21621639 10452915;10518925;10562416;11015575;11409902;11812220;11950776;12022871;12477932;12679808;12721789;12725862;12773168;12960109;15188402;15475243;15475733;15489334;15931389;16282638;16344560;16419644;16712791;16962139;16971496;17264798;1748313;17537833;17764701;18305377;18328811;18485328;18599737;18794728;18983829;1918003;19185566;19225040;19332024;19343046;19487248;19508181;19658107;19715681;19733552;19932971;1997784;20195289;20422440;20529763;20530478;20649590;2070086;20931200;20975297;21081832;22237548;22525521;22588607;22688218;22700792;22943824;23111421;23275066;23467860;23468884;23658012;23936796;24141856;24170778;24212379;24350812;2612723;8049197;8218228;8406473;9003459;9311626 1066 H3BQR4;H3BQV8;H3BSU0;P23141 AB025026;AB119995;AB119996;AB119997;AB119998;AB187224;AB210087;AB210088;AB210089;AB210090;ABBA01025235;ABBA01025236;AC020766;AC147362;AF177775;AK290623;AK292209;AK301651;AMYH02032080;AMYH02032081;AU139632;AY033590;AY268104;BC009706;BC012418;BC110338;CB137639;CH471092;D21088;L07764;L07765;M55509;M65261;M73499;NG_012057;NM_001025194;NM_001025195;NM_001266;S73751;X52973;X96751;XM_005255774;XM_005276867 AAA16036;AAA35649;AAA35650;AAA35711;AAA83932;AAC60631;AAD53175;AAH12418;AAI10339;AAP20868;ABM82398;ABM85582;BAA04650;BAA84995;BAC87748;BAC87749;BAC87750;BAC87751;BAE48735;BAE48737;BAE48738;BAE48739;BAE48740;BAF83312;BAF84898;BAH13531;CAA37147;CAA65527;EAW82838;EAW82839;EAW82840;NP_001020365;NP_001020366;NP_001257;P23141;XP_005255831;XP_005276924 Hs.558865 1646698;1729560;2124583;2176828;2217144;5107567;5127486 CES1_2840;D16S2959;D16S306;D16S756;D16S759;RH11630;RH70948 ACAT;CE-1;CEH;CES2;HMSE;HMSE1;MGC117365;PCE-1;REH;SES1;TGH;hCE-1 acyl coenzyme A:cholesterol acyltransferase;acyl-coenzyme A:cholesterol acyltransferase;brain carboxylesterase hBr1;carboxylesterase 1 (monocyte/macrophage serine esterase 1);carboxylesterase 2 (liver);cholesteryl ester hydrolase;cocaine carboxylesterase;egasyn;human monocyte/macrophage serine esterase 1;liver carboxylesterase 1;methylumbelliferyl-acetate deacetylase 1;monocyte/macrophage serine esterase;retinyl ester hydrolase;serine esterase 1;triacylglycerol hydrolase APPROVED protein-coding ENSG00000198848 HGNC:1863 00268 114835 REVIEWED 7060440 CERS6-AS1 CERS6 antisense RNA 1 2 2 q 169628461 169642939 - 168771951 168786429 - 12477932;16344560 100861402 ABBA01004958;AC009475;AI150099;AMYH02005174;BC035245;DB072723;DB077980;NR_045786;NR_045787 Hs.506829 1734760;1857270;2119202;2147375;2151388;2171667;2171669;2182255 A005N32;D2S1544E;D2S1648E;D2S2660;G20356;HUM0S12B10;RH16666;WI-15844 AC009475.2 ncrna ENSG00000227617 HGNC:44485 VALIDATED 7247532 CES1P2 carboxylesterase 1 pseudogene 2 16 16 16 q12.2 40273236 40298539 + 55758837 55784123 + 55724925 55750211 + 390732 ABBA01066526;AC136621;AMYH02032077;DY654505;DY654893;NR_033740 Hs.554599 1738761 D16S2848 pseudo HGNC:48928 VALIDATED 1344824 CES1P1 carboxylesterase 1 pseudogene 1 This gene is a member of the carboxylesterase (CES) gene family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene does not encode a protein and the sequence is similar to the CES1 gene, so represents a pseudogene of the CES1 gene. [provided by RefSeq, Jun 2010] 16 16 16 q12.2 40308919 40322909 + 55794511 55808838 + 55760599 55774926 + 1580863;6480464 10452915;12477932;17264798;18794728;20195289;20931200;21510813 51716 Q9UKY3 AB187225;ABBA01066526;ABBA01066527;ABBA01066528;AC020766;AC136621;AC147362;AF106005;AMYH02032077;BC131699;CH471092;NR_003276 AAF14185;BAE48736;EAW82836;EAW82837 Hs.721645 2124583;2176828 D16S756;RH70948 CES1A2;CES1A3;CES4;CESR;PCE-3 APPROVED pseudo ENSG00000228695 HGNC:18546 07009 REVIEWED 736535 CES2 carboxylesterase 2 This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. The protein encoded by this gene is the major intestinal enzyme and functions in intestine drug clearance. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010] 16 16 16 q22.1 51476606 51487258 + 66968347 66978999 + 66934444 66945096 + 6480464 10452915;11076863;11230166;12417987;12477932;12721789;12835618;12960109;14702039;15475243;15475733;15489334;15489336;15592324;15618752;15967118;16344560;16381901;16690525;16963839;17483951;17537833;17640957;17764701;18259949;18305377;18473752;18794728;18797458;18983829;19225040;19274604;19343046;19349540;19508181;19856659;19913121;19956635;20195289;20237496;20379614;20422440;20529763;20628086;20649590;20931200;22525521;23471941;23480903;24195516;24212379;8125298;9144407;9169443 8824 H3BUN5;J3QKN7;J3QLP1;J3QSC0;O00748 ABBA01025423;AC009084;AI601196;AK095522;AK222724;AK290482;AL713761;AMYH02032220;AU137474;AY851164;BC032095;BC071874;BC098417;BX538086;CH471092;D50579;NM_003869;NM_198061;NR_036684;U60553;Y09616 AAB03611;AAH32095;AAH71874;AAH98417;AAW29943;ABM83948;ABM87755;BAA23606;BAD96444;BAF83171;CAA70831;CAD28531;CAD98009;CAL37659;EAW83057;EAW83058;EAW83059;NP_003860;NP_932327;O00748 Hs.282975 1651317;1651891;1663006;1795558 CES2_1222;D16S3339;RH47644;RH71242 CE-2;CES2A1;PCE-2;hCE-2;iCE OTTHUMP00000174813;carboxylesterase 2 (intestine, liver);cocaine esterase;intestinal carboxylesterase;liver carboxylesterase-2;methylumbelliferyl-acetate deacetylase 2 APPROVED protein-coding ENSG00000172831 HGNC:1864 07062 605278 REVIEWED 1602823 CES4A carboxylesterase 4A This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010] 16 16 16 q22.1 51530751 51551914 + 67022491 67043661 + 66988589 67009758 + 6480464 12477932;12975309;14702039;16751776;17364878;20161041;20422440;20931200;24250222 283848 F5GZV6;I3L191;Q5XG92;Q6P2E5 AA846813;ABBA01025423;ABBA01025424;AC009084;AK094321;AK094783;AK293061;AK295483;AK296064;AK300792;AMYH02032220;AMYH02032221;AX469746;AX469748;BC029039;BC041823;BC064573;BC084555;BI914453;CD369737;CH471092;DC306014;DC339496;DQ574542;NM_001190201;NM_001190202;NM_173815;XM_005255896;XM_005255897;XM_006721178 AAH64573;AAH84555;AAI66638;BAC04422;BAF85750;BAH12085;BAH12248;BAH13349;CAD42609;CAD42610;EAW83065;NP_001177130;NP_001177131;NP_776176;Q5XG92;XP_005255953;XP_005255954;XP_006721241 Hs.346947;Hs.734986 1655989;2124369;5014039;5016478;5020946;5022200;5022576;5022651;5024413;5037552 AFM268YF1;D11S2921;D1S1361;D22S1584;D8S2279;GDB:434012;L17877;L17971;L18426;SHGC-60675 CES6;CES8;FLJ37002;FLJ37464 OTTHUMP00000237118;OTTHUMP00000237120;OTTHUMP00000237122;OTTHUMP00000237123;carboxylesterase 6;carboxylesterase 8;carboxylesterase 8 (putative) APPROVED protein-coding ENSG00000172824 HGNC:26741 07116 REVIEWED 735260 CES3 carboxylesterase 3 This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene is expressed in several tissues, particularly in colon, trachea and in brain, and the protein participates in colon and neural drug metabolism. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported, but the biological validity and/or full-length nature of some variants have not been determined.[provided by RefSeq, Jun 2010] 16 16 16 q22.1 51503391 51517311 + 66995132 67009052 + 66961229 66975149 + 6480464 11181995;12477932;12975309;14581373;14702039;15100172;15188402;16344560;18794728;19199708;19508181;20422440;20529763;20931200;22700792;7916639 23491 H3BRE5;H3BUA3;Q6UWW8 ABBA01025423;AC009084;AK000105;AK025158;AK025171;AK025389;AK097538;AMYH02032220;AY358609;BC053670;CH471092;DA924627;EU595874;NM_001185176;NM_001185177;NM_024922 AAH53670;AAQ88972;ACD11491;BAB15123;BAC05093;EAW83060;EAW83062;NP_001172105;NP_001172106;NP_079198;Q6UWW8 Hs.268700 1660619;5109291 A008L06;D1S1459 ES31;FLJ21736 OTTHUMP00000174822;OTTHUMP00000174823;carboxylesterase 3 (brain);esterase 31;liver carboxylesterase 31 homolog APPROVED protein-coding ENSG00000172828 HGNC:1865 07014 605279 REVIEWED 1606422 CES5A carboxylesterase 5A This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 16 16 16 q12.2 40376529 40486410 - 55880066 55989943 - 55846154 55956031 - 6480464;8554872 12401131;12477932;14702039;16344560;19727319;20161041;20379614;20422440;20931200;24324551 221223 E5RFG9;F5H0J7;I3L4A8;I3NI11;Q6NT32;V9HWK3 ABBA01025236;AC007335;AC020766;AC147362;AK056109;AK090997;AK294334;AMYH02032081;AY907669;BC039073;BC069501;BC069548;BC117126;BC143692;CH471092;DA698987;EU794678;NM_001143685;NM_001190158;NM_145024;XM_005255841;XM_005276868 AAH69501;AAH69548;AAI17127;AAI43693;AAX86044;ACJ13732;BAB71094;BAC03565;BAH11738;EAW82841;EAW82842;EAW82843;EAW82844;NP_001137157;NP_001177087;NP_659461;Q6NT32;XP_005255898;XP_005276925 Hs.350800 1716885;2166191 RH121735;WI-10706 CES4C1;CES5;CES7;FLJ31547;HEL126 CAUXIN;OTTHUMP00000164312;OTTHUMP00000164313;OTTHUMP00000228098;OTTHUMP00000228100;OTTHUMP00000228102;carboxylesterase 5;carboxylesterase 7;carboxylesterase-like urinary excreted protein homolog;epididymis luminal protein 126 APPROVED protein-coding ENSG00000159398 HGNC:26459 07016 REVIEWED 1344937 CETN1 centrin, EF-hand protein, 1 The protein encoded by this gene plays important roles in the determination of centrosome position and segregation, and in the process of microtubule severing. This encoded protein is localized to the centrosome of interphase cells, and redistributes to the region of the spindle poles during mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. [provided by RefSeq, Jul 2008] 18 18 18 p11.32 455077 456233 + 580369 581524 + 580369 581524 + 1580863;6480464 10725219;11279195;12477932;15489334;15514162;16101678;16246726;16760425;18331714;19615732;21890473;22833046;23000965;24140708;8175926 1068 Q12798 ABBA01049813;AK312047;AMYH02034188;AP001178;BC029515;CH471113;HC006882;HC044503;NM_004066;U03270 AAC27343;AAH29515;ABM81896;ABM85070;BAG34983;CBH19246;CBH30581;EAX01727;NP_004057;Q12798 Hs.122511 1686448;2218374 CETN1_4560;RH35650 CEN1;CETN EF-hand protein;OTTHUMP00000162193;calcium binding protein;caltractin;centrin-1 APPROVED protein-coding HGNC:1866 04425 603187 REVIEWED 4144956 CES5AP1 carboxylesterase 5A pseudogene 1 22 22 22 q11.23 7494382 7536958 - 23701793 23724313 - 23359606 23382126 - 6480464 649264 ABBA01055107;AMYH02038124;AP000343;AP000344;BU585270;BX280446;CH471095;NR_037839 EAW59573 Hs.600549 pseudo HGNC:38516 PROVISIONAL 733085 CETN3 centrin, EF-hand protein, 3 The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 5 5 5 q14.3 85591376 85607451 - 89689528 89705611 - 90393335 90409792 - 1580863;6480464 10725219;11279195;12477932;14711432;14731449;15489334;15654740;16101678;16169070;18029348;19615732;19734900;20098747;20360068;20508983;21890473;23000965;8798410;9004043;9256449;9843852 1070 E5RFM2;E5RH67;E5RJF8;E5RK82;H0YBL5;O15182 ABBA01062152;AC093510;AMYH02011772;AMYH02011773;BC005383;BC093793;BC112040;BM553126;BQ000279;BT006688;BU569574;BU633961;CB988525;CB998764;CH471084;CR450346;NM_001297765;NM_001297768;NM_004365;XM_006714521;Y12473 AAH05383;AAH93793;AAI12041;AAP35334;CAA73077;CAG29342;EAW95977;NP_001284694;NP_001284697;NP_004356;O15182;XP_006714584 Hs.591767 1684732 RH93659 CDC31;CEN3;MGC12502;MGC138245 CDC31 yeast homolog;EF-hand superfamily member;OTTHUMP00000162003;OTTHUMP00000228165;OTTHUMP00000228166;OTTHUMP00000228168;centrin, EF-hand protein, 3 (CDC31 homolog, yeast);centrin-3 APPROVED protein-coding ENSG00000153140 HGNC:1868 04216 602907 REVIEWED 736112 CETN2 centrin, EF-hand protein, 2 Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high level of conservation from algae to humans and its association with the centrosome suggested that caltractin plays a fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper duplication and segregation of the centrosome. [provided by RefSeq, Jul 2008] X X X q28 152330255 152333685 - 151995871 151999301 - 152827327 152830757 - 1580863;6480464;6907045;7246920 22572993 10788612;10854409;11076863;11076968;11256614;11279143;12176356;12221128;12477932;12578356;12802058;12852856;12890685;14504268;14767062;15356003;15489334;15489336;15964821;16101678;16381901;16411764;16462731;16464125;16533048;16627479;16760425;16820684;16956364;17081983;17154534;17603931;17897675;18172010;18177054;19179680;19615732;19706679;19857500;20360068;20508983;20586543;20980622;21091437;21139048;21676658;21731694;21890473;21962512;21988832;22809153;22939629;23000965;23840880;23844208;23891004;24035498;24140708;24291146;24816145;7713520;7790358;8248209;8597638;9665797 1069 P41208 AK311940;AMYH02040791;AY919675;BC005334;BC013873;BT007256;CH471172;NG_009163;NM_004344;U82671;X72964 AAH05334;AAH13873;AAP35920;AAW82436;BAG34881;CAA51467;CAL37917;EAW72900;NP_004335;P41208 Hs.82794 1701708;2122014 DXS52;STS-X72964 CALT;CEN2 OTTHUMP00000026058;caltractin (20kD calcium-binding protein);centrin 2;centrin-2 APPROVED protein-coding HGNC:1867 02051 300006 REVIEWED 3302259 CETN4P centrin EF-hand protein 4, pseudogene Centrins are members of the calcium-binding EF-hand protein superfamily and accumulate in centrosomes. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008] 4 4 4 q27 121034368 121036635 - 123651344 123653613 - 122730189 122732458 - 6480464 17089211;18085818;20210993 729338 ABBA01044741;AC053545;AMYH02010020;AV733354;NG_021203;NR_024041 Hs.647968 1777102 D4S2648 APPROVED pseudo HGNC:35450 VALIDATED 1604188 CFAP126 cilia and flagella associated protein 126 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; bisphenol A; diethylstilbestrol 1 1 1 q23.3 134401651 134404794 - 161334521 161337673 - 161364731 161367883 - 6480464;8554872 17213182;22275255;25296022;8889548 257177 Q5VTH2 ABBA01016590;AC243898;AL592295;BU688150;CH471121;DT215043;NM_001013625 EAW52596;NP_001013647;Q5VTH2 Hs.534593 1701676;2160051;2181924;5093192 A009J11;G32575;RH104510;RH68877 Fltp Flattop;OTTHUMP00000032373;UPF0740 protein C1orf192;hypothetical protein LOC257177 APPROVED protein-coding ENSG00000188931 HGNC:32325 13257 VALIDATED 1345977 CETP cholesteryl ester transfer protein, plasma The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] 16 16 16 q21 41496117 41518031 + 56995835 57017757 + 56961923 56983844 + 1580358;1580359;1600654;1580863;6480464;7240710;8554872;8699517 10619997;10861897;16258026 10391209;11056092;11096142;11284423;11322655;11341749;11359462;11369008;11398140;11454014;11533368;11575217;11689220;11714857;11730826;11804197;11810297;11872695;11882335;11887180;11888509;11888533;11903340;11915346;11952809;11956670;11996962;12019635;12033532;12037734;12048136;12055319;12070157;12082592;12091484;12104085;12116231;12117730;12164095;12174215;12401886;12409629;12446192;12477932;12482565;12499392;12514935;12518020;12519368;12519369;12544508;12579494;12588754;12601526;12639975;12663600;12669678;12700892;12730302;12771320;12771549;12773093;12791674;12798569;12818401;12818414;12820950;12840632;12871320;12907677;12919138;12951364;12966036;14531818;14559957;14563342;14583798;14660992;14669156;14679166;14687732;14732872;14967821;14998629;15036597;15039125;15053158;15076187;15085362;15098490;15099350;15102891;15138631;15228446;15256516;15339254;15377415;15382463;15450208;15489334;15585206;15589073;15608561;15655129;15696473;15766738;15811250;15840744;15856070;15859394;15864114;15882786;15888337;15896905;15939053;15952120;15955471;15979432;15992403;15996208;16002074;16005462;16030523;16038892;16039291;16049032;16086925;16096813;16098387;16123327;16141008;16159884;16169070;16189514;16205020;16248996;16306202;16306375;16326978;16332659;16335952;16343038;16384616;16420563;16426594;16430904;16522905;16542392;16544732;16553359;16563399;16623947;16670775;16674961;16684835;16763159;16770077;16797310;16822236;16829344;16837242;16855190;16890925;16946130;16986521;17053273;17055779;17097007;17108362;17157861;17160943;17190939;17196207;17237796;17272756;17275808;17287950;17293475;17310124;17311515;17318300;17335774;17440012;17463246;17495597;17503098;17512305;17512363;17519358;17522050;17531380;17555738;17568242;17568951;17587762;17587768;17588582;17615573;17658505;17666459;17700364;17709636;17767699;17785925;17848121;17852818;17855807;17931083;17949364;17970962;17991668;17991755;18033754;18034366;18036514;18056760;18063597;18064308;18164013;18178167;18187430;18193043;18193044;18221399;18239576;18243217;18275964;18279878;18287799;18289550;18354102;18369235;18393253;18454146;18454345;18468607;18494281;18503096;18509195;18513389;18518852;18549840;18560005;18562803;18622260;18636124;18637884;18660489;18665040;18667902;18669886;18676680;18680734;18728123;18787507;18804459;18823627;18835593;18841571;18849221;18851690;18926541;18956684;18957472;18996102;19018779;19038839;19038848;19056069;19056482;19056867;19060906;19060910;19060911;19086575;19099922;19131637;19131662;19140312;19147676;19148283;19155782;19165812;19168039;19170196;19184337;19191759;19193611;19200546;19217440;19242900;19260141;19263529;19273719;19282272;19282863;19285487;19299407;19336370;19341173;19345354;19359809;19360375;19364639;19403283;19417222;19420105;19424605;19428034;19444232;19463799;19471550;19479237;19489872;19491422;19558216;19558660;19564641;19578796;19625176;19641010;19642912;19679263;19689828;19691831;19692168;19728844;19729601;19733717;19764573;19773416;19784962;19810818;19815603;19822408;19850020;19878569;19913121;19926784;19936222;19948972;19948975;19956635;19956911;1999438;20006332;20026784;20031538;20031551;20031564;20031591;20059631;20065167;20066028;20068209;20082485;20138746;20139978;20160193;20167577;20195290;20200605;20228163;20370913;20385819;20385826;20394740;20398902;20400780;20403997;20413122;20413969;20421239;20430392;20431066;20452482;20458649;20489166;20494359;20511482;20536507;20565774;20578904;20581105;20602615;20628086;20634891;20673868;20679960;20686565;20691829;20694148;20714348;20717043;20799898;20822508;20835684;20838585;20855565;20864672;20937151;21039385;21062971;21146168;21185205;21252145;21347282;21352420;21354572;21371711;21376264;21380728;21386085;21524747;21591583;21609439;21665990;21689002;21765051;21767357;21816162;21822774;21892657;21899732;21909109;21943158;21982411;21988832;22003152;22056562;22073289;22079329;22122979;22122993;22143414;2215607;22234866;22265126;22286219;22339301;22344176;22399527;22403620;22414273;22464147;22464213;22474067;22556171;22584245;22623978;22679067;22729881;22813404;22850130;22854712;22904275;22916037;22928361;22952570;23039379;23083790;23118302;23129316;23157875;23181436;23189141;23312786;2334701;23351584;23389097;23455636;23477743;23505323;23522788;23555584;23591416;23620138;23623643;23656756;23676183;23678159;23726366;23758630;23772784;23891427;2390095;23950155;23988150;24023260;24023261;24078569;24080640;24091356;24097068;24115030;24204732;24242673;24283500;24386095;24388961;24393350;24393849;25134189;2586614;2833496;3104518;3446583;3600759;3818596;7583561;7989465;8132678;8408659;8494888;8943225;9305883;9332354;9374130;9712344 1071 B4DMZ5;H3BRJ9;P11597 AA999853;ABBA01025257;ABBA01025258;AC012181;AC023825;AF027656;AK291586;AK297699;AMYH02032098;AY008270;AY172980;AY422211;BC025739;BT020064;CH471092;M30185;M32998;M83573;NG_008952;NM_000078;NM_001286085;U71187;XM_006721124 AAA51977;AAA51978;AAB59388;AAB86604;AAD14876;AAG21822;AAH25739;AAO12735;AAR03500;AAV38867;ABW03330;BAF84275;BAG60057;EAW82896;EAW82897;NP_000069;NP_001273014;P11597;XP_006721187 Hs.89538 1792120;1792122;1792788;1792790;1792792;1792800;1792802;1792804;1792806;1792808;1792810;1847396;2146699;5126077 D16S3244;PMC137182P4;PMC137182P5;PMC164606P1;PMC164606P10;PMC164606P11;PMC164606P2;PMC164606P3;PMC164606P4;PMC164606P5;PMC164606P7;PMC164606P8;SHGC-6119;STS-M30185 BPIFF;HDLCQ10 BPI fold containing family F;OTTHUMP00000164380;cholesteryl ester transfer protein;lipid transfer protein I APPROVED protein-coding ENSG00000087237 HGNC:1869 00325 118470;143470 REVIEWED 1605686 CFAP20 cilia and flagella associated protein 20 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cilium morphogenesis; positive regulation of cell motility; positive regulation of feeding behavior; FOUND IN centriole; ciliary basal body; cilium; INTERACTS WITH copper(2+) sulfate; coumestrol; cyclosporin A 16 16 16 q21 42644770 42662761 - 58147496 58163296 - 58113592 58129392 - 6480464 12477932;15324660;17332742;19056867;21139048;21890473;21906983;21988832;23000965;24457600;8688464 29105 H3BPA3;Q9Y6A4 ABBA01025294;ABBA01025295;AC009107;AC012182;AC026771;AF087845;AF093680;AK027099;AK297819;AMYH02032115;AV751497;BC005152;CH471092;NM_013242 AAD40382;AAH05152;AAP97158;ABZ92321;BAG60156;EAW82967;NP_037374;Q9Y6A4 Hs.532755 1660319;1738649 D16S2775;SHGC-61162 C16orf80;GTL3;fSAP23 EVORF;OTTHUMP00000164726;UPF0468 protein C16orf80;flagellar associated protein 20 homolog;functional spliceosome-associated protein 23;gene trap locus 3;transcription factor IIB APPROVED protein-coding ENSG00000070761 HGNC:29523 13616 VALIDATED 1606685 CFAP221 cilia and flagella associated protein 221 ENCODES a protein that exhibits calmodulin binding (inferred); INVOLVED IN cilium morphogenesis (inferred); cilium movement (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cilium (inferred) 2 2 2 q14.2 113627896 113739842 + 120302008 120414237 + 119544427 119660925 + 8554872 11181995;12477932;18039845;18839057;20379614;20421426 200373 Q4G0U5 ABBA01045924;AC013275;AC069154;AC104817;AI949948;AK293665;AK304416;AMYH02004649;AV654519;AW611757;BC036530;CH471103;DC417687;NM_001271049;NR_073132;NR_073133;XM_006712349;XM_006712350;XM_006712351;XM_006712352;XM_006712353;XM_006712354;XM_006712355 AAH36530;BAG57111;BAG65247;EAW95221;EAW95222;NP_001257978;Q4G0U5;XP_006712412;XP_006712413;XP_006712414;XP_006712415;XP_006712416;XP_006712417;XP_006712418 Hs.496753 1651311;1750003 SHGC-111704;WI-17117 FAP221;MGC33657;PCDP1 OTTHUMP00000203663;OTTHUMP00000203664;flagellar associated protein 221 homolog;primary ciliary dyskinesia 1 homolog;primary ciliary dyskinesia protein 1 APPROVED protein-coding ENSG00000163075 HGNC:33720 18748 VALIDATED 1350133 CFAP43 cilia and flagella associated protein 43 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (S)-nicotine; benzo[a]pyrene; titanium dioxide (ortholog) 10 10 10 q25.1 99630515 99732956 - 105889646 105992124 - 104129888 104232366 - 737633;6480464;8554872 12477932 14702039;16344560;16385451;18839057;19913121;20462248;25015289 80217 H0Y4U9;H7BZT8;Q5TA04;Q5TA05;Q8NDM7 ABBA01063087;AK026597;AK093325;AK295018;AL136901;AL139341;AL357336;AL833836;AMYH02023733;AMYH02023734;AW269011;BC036647;BC071565;CH471066;DA681478;DB065957;NM_025145;XM_005270171;XM_005270172;XM_005270173;XM_005270174;XM_005270175;XM_005270176 AAH36647;BAB15506;BAC04133;BAG58077;CAB66835;CAD38696;EAW49605;EAW49606;EAW49607;EAW49608;EAW49609;NP_079421;Q8NDM7;XP_005270228;XP_005270229;XP_005270230;XP_005270231;XP_005270232;XP_005270233 Hs.288927 C10orf79;FLJ22944;FLJ36006;RP11-373N18.2;WDR96;bA373N18.2 WD repeat domain 96;WD repeat-containing protein 96;WD repeat-containing protein C10orf79 APPROVED protein-coding ENSG00000197748 HGNC:26684 07625 PROVISIONAL 1603927 CFAP36 cilia and flagella associated protein 36 INTERACTS WITH arsenous acid; cyclosporin A; diarsenic trioxide 2 2 2 p16.1 55587129 55612615 + 55746740 55772216 + 55519595 55545080 + 6480464 12477932;12975309;15489334;15815621;18029348;18654987;19680650;20639865;20936779;21139048;21890473;21906983;21963094;22505724;23000965;24250222;24654937;24816145;8889548 112942 B5MC35;B5MCA1;B5MD16;Q96G28 ABBA01075270;AC015982;AC019198;AK308776;AK309764;AMYH02003855;AMYH02003856;AY358097;BC001797;BC010011;BM980999;BM993564;CH471053;DB448836;NM_001282761;NM_080667;XM_005264120 AAH10011;AAQ88464;AAY14933;AAY24269;ABM84008;ABM87342;EAX00097;EAX00098;NP_001269690;NP_542398;Q96G28;XP_005264177 Hs.264208 2159258;2171125;2183659 RH66650;STS-Z41123;WI-13778 CCDC104;MGC15407 OTTHUMP00000159693;OTTHUMP00000198248;OTTHUMP00000201265;OTTHUMP00000201267;coiled-coil domain containing 104;coiled-coil domain-containing protein 104 APPROVED protein-coding ENSG00000163001 HGNC:30540 14445 VALIDATED 6481375 CFAP44-AS1 CFAP44 antisense RNA 1 3 3 113122845 113152839 + 113403998 113433992 + 23535732 100874029 ABBA01061653;AC023894;AC026348;AC112128;AI221177;AMYH02007447;BX108680;HG495943;NR_046728 Hs.599665 1690786 RH92266 RP11-24O5.2;WDR52-AS1 APPROVED ncrna ENSG00000243849 HGNC:41113 VALIDATED 1343890 CFAP44 cilia and flagella associated protein 44 INTERACTS WITH methotrexate; trichostatin A; valproic acid 3 3 3 q13.2 111414367 111568950 - 113005777 113160986 - 113286930 113445190 - 737633;6480464 12477932 14702039;16344560;23535732;8889548 55779 C9K0A4;F8WEX0;H0Y853;H0Y883;H0Y896;H7C512;H7C591;Q96MT7;Q9NUU0;Q9UF55 ABBA01061653;ABBA01061654;AC023894;AC026329;AC026348;AC112128;AK002004;AK056472;AK094398;AL133606;AMYH02007446;AMYH02007447;BC016799;BC101582;BC113553;BM978031;CH471052;CR936646;DB050626;NM_001164496;NM_018338;XM_005247617;XM_006713696;XM_006713697;XM_006713698;XM_006713699;XR_427370;XR_427371 AAI01583;AAI13554;BAA92030;BAB71193;CAB63738;CAI56784;EAW79640;EAW79641;EAW79642;NP_001157968;NP_060808;Q96MT7;XP_005247674;XP_006713759;XP_006713760;XP_006713761;XP_006713762 Hs.584936 1341793;1643628;1645760;1690786;1695250;1754689;2162163;7187360 D3S1610;D3S2353;G48268;IB1282;RH48074;RH92266;SHGC-133044 DKFZp781C082;FLJ11142;MGC126631;MGC142113;WDR52 OTTHUMP00000214532;WD repeat domain 52;WD repeat-containing protein 52 APPROVED protein-coding ENSG00000206530 HGNC:25631 07734 VALIDATED 1604370 CFAP45 cilia and flagella associated protein 45 ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH aflatoxin B1; diethylstilbestrol; isotretinoin 1 1 1 q22 132910587 132938343 - 159842150 159869992 - 159872364 159900116 - 6480464;8554872 10524255;12477932;19322201;20000738;20639394;20715168;22140479;22997098;8125298 25790 Q9UL16 ABBA01016617;AF094758;AK225566;AK225582;AK292249;AK308262;AL590560;AMYH02002018;BC027874;BC064386;BC089391;BC109055;CH471121;NM_012337 AAD55817;AAH89391;BAF84938;EAW52765;EAW52766;NP_036469;Q9UL16 Hs.647705 2138741 AL009554 CCDC19;NESG1;RP11-190A12.6 OTTHUMP00000033461;coiled-coil domain containing 19;coiled-coil domain-containing protein 19, mitochondrial;nasopharyngeal epithelium specific protein 1 (NESG1);nasopharyngeal epithelium-specific protein 1 APPROVED protein-coding ENSG00000213085 HGNC:17229 05514 605152 VALIDATED 1350822 CFAP46 cilia and flagella associated protein 46 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH fonofos; parathion; terbufos 10 10 10 q26.3 128844843 128896279 + 134621896 134756089 - 132808392 132942585 - 737633;6480464;8554872 12477932 11181995;11230166;14702039;15146197;15164054;15489334;16385451;17207965;8889548 54777 B1AP42;H0Y845;Q8IYW2 AA813184;ABBA01006195;ABBA01006196;ABBA01006197;ABBA01006198;AK098820;AK128150;AL122111;AL392043;AL691429;AMYH02024081;AMYH02024082;BC034223;BC044661;BC146900;BC146908;BM726635;BX376477;CA310952;CH471211;CN285826;DN930461;DR001134;DV080197;DV080198;DV080461;DV080489;DV080629;DV080663;DV080697;DY654537;EL734348;NM_001200049 AAH34223;AAH44661;AAI46901;AAI46909;BAC05424;CAB59272;EAW61309;EAW61310;NP_001186978;Q8IYW2 Hs.298038;Hs.719815 C10orf123;C10orf124;C10orf92;C10orf93;DKFZp434A1721;FLJ25954;FLJ46273;MGC182003;MGC182011;RP11-288G11.4;RP13-137A17.3;TTC40;bA288G11.4;bA288G11.5;bB137A17.2;bB137A17.3 TPR repeat-containing protein C10orf93;chromosome 10 open reading frame 92;hypothetical protein LOC54777;tetratricopeptide repeat domain 40;tetratricopeptide repeat protein 40;uncharacterized protein C10orf92 APPROVED protein-coding ENSG00000171811 HGNC:25247 12596 PROVISIONAL 1348671 CFAP52 cilia and flagella associated protein 52 WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008] 17 17 17 p13.1 9512279 9579035 + 9479944 9546776 + 9576627 9643459 + 6480464;8554872 12477932;14702039;15489334;15967112;16344560;18029348;24250222 146845 I3L237;I3L2G9;K7ERC0;Q8N1V2;V9GY13 AB065281;ABBA01054956;ABBA01054957;ABBA01054958;ABBA01054959;AC087501;AC118755;AI553675;AK074435;AK094847;AK315679;AMYH02032952;AMYH02032953;BC025392;CH471108;CQ756572;DB040461;NM_001080556;NM_145054;XM_005256475 AAH25392;BAB83743;BAB85083;BAC04435;BAG38044;CAF32596;EAW90024;EAW90025;EAW90026;EAW90027;NP_001074025;NP_659491;Q8N1V2;XP_005256532 Hs.232270 1728947 D10Bir11 FLJ37528;WDR16;WDRPUH OTTHUMP00000196460;WD repeat domain 16;WD repeat-containing protein 16;WD40-repeat protein up-regulated in HCC;WD40-repeat protein upregulated in HCC APPROVED protein-coding ENSG00000166596 HGNC:16053 14072 609804 VALIDATED 1603180 CFAP54 cilia and flagella associated 54 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 12 12 12 q23.1 96549428 96706938 + 96966648 97269333 + 96489577 96765256 + 8554872 11181995;12477932;14702039;16344560;16541075;20379614;20966902;21890473 144535 E9PJL5;H0YIB5;Q96N23 ABBA01053309;ABBA01053310;ABBA01053311;AC007513;AC007564;AC008118;AK056076;AK091789;AK126100;AK307646;AMYH02027011;AMYH02027012;AMYH02027013;AMYH02027014;BC041426;CH471054;DB225896;XM_006709964;XM_006719724;XM_006726546 AAI48604;AAI53168;BAB71089;BAC86439;EAW97575;Q6ZTY8;Q96N23;XP_006710027;XP_006719787;XP_006726609 Hs.436197;Hs.535389;Hs.730039 1337030;1722811;1774980;1794156;1794158;1794160;2125993;2170126;2185518;5015607;5115198;5118342;5118412 D11S2442;D11S3014;D11S3206;D11S3270;D12S1073;D12S1716;D12S1982;D12S2105;D12S2108;G60347;PMC310794P5;PMC310794P6;PMC310794P7 C12orf55;C12orf63;FLJ31514;FLJ34470 hypothetical protein LOC144535;putative uncharacterized protein C12orf63;uncharacterized protein C12orf55 APPROVED protein-coding ENSG00000188596 HGNC:26456 MODEL 1344036 CFAP53 cilia and flagella associated protein 53 ASSOCIATED WITH Abdominal situs inversus (inferred); Autosomal recessive inheritance (inferred); HETEROTAXY, VISCERAL, 6, AUTOSOMAL (inferred); INTERACTS WITH all-trans-retinoic acid; bisphenol A; copper(2+) sulfate 18 18 18 q21.1 44610119 44649420 - 47753563 47792865 - 50227193 50266495 - 737633;6480464;8699517;8554872 12477932 14702039;15489334;16189514;20379614;21832049;22577226;24250222 220136 Q96M91 ABBA01018669;ABBA01018670;AC090246;AK057305;AK302114;AMYH02034702;AMYH02034703;BC030606;CH471096;NM_145020;XM_006722419 AAH30606;BAB71418;BAG63493;EAW62960;EAW62961;NP_659457;Q96M91;XP_006722482 Hs.658630 1730545 D18S94 CCDC11;FLJ32743;HTX6 OTTHUMP00000163503;coiled-coil domain containing 11;coiled-coil domain-containing protein 11 APPROVED protein-coding ENSG00000172361 HGNC:26530 09958 614759 VALIDATED 1603569 CFAP57 cilia and flagella associated protein 57 This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 1 1 1 p34.2 41920109 41958656 + 43638001 43720029 + 43172330 43254358 + 6480464;8554872 10322433;11781685;11814058;12477932;14702039;14743216;15489334;15867431;16344560;16710414;18029348;18925368;21460395;21574244;22447971;24322204;8090199;8889548 149465 E9PP89;E9PRV3;H7C4D4;Q96MR6 ABBA01050962;AC093420;AK056562;AL139138;AMYH02000895;AMYH02000896;AMYH02000897;BC117280;BC117306;BC143804;BU609144;CD691772;CH471059;DA388966;DB057663;DB066304;DB216041;DV080053;DV080109;DV080256;DV080557;DV080558;NG_028079;NM_001167965;NM_001195831;NM_152498;XM_005270520;XM_006710382;XM_006710383;XM_006710384 AAI17281;AAI17307;ADR83238;BAB71217;EAX07118;NP_001161437;NP_001182760;NP_689711;Q96MR6;XP_005270577;XP_006710445;XP_006710446;XP_006710447 Hs.527565;Hs.735676;Hs.738994 1339392;1668392;1699408;1849613 D1S1758E;D1S2797;RH103295;SHGC-57341 FLJ32000;RP11-282K6.2;VWS2;WDR65 OTTHUMP00000008355;WD repeat domain 65;WD repeat-containing protein 65 APPROVED protein-coding ENSG00000243710 HGNC:26485 08717 614259 REVIEWED 1317458 CFAP58 cilia and flagella associated protein 58 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH (-)-demecolcine; formaldehyde; potassium dichromate (ortholog) 10 10 10 q25.1 99854331 99955667 + 106099377 106214848 + 104353764 104455090 + 6480464;8554872 12477932;14702039;15164054;15489334;20811636;21145461;21832049 159686 Q5T655;Q9H4Y4 ABBA01063087;AK093227;AK296463;AL162742;AL355378;AMYH02023736;AMYH02023737;BC036225;BC109126;BX641120;CH471066;NM_001008723 AAH36225;AAI09127;BAC04102;BAG59109;EAW49593;EAW49594;EAW49595;NP_001008723;Q5T655 Hs.253576 1342307;1758931;7186191;7186663 D10S540;SHGC-151024 C10orf80;CCDC147;FLJ35908;MGC126475;RP11-554P13.1;bA127L20.4;bA127L20.5;bA554P13.1 OTTHUMP00000020442;bA127L20.4 (novel protein);bA127L20.5 (novel protein);coiled-coil domain containing 147;coiled-coil domain-containing protein 147 APPROVED protein-coding ENSG00000120051 HGNC:26676 16583 VALIDATED 1323021 CFAP61 cilia and flagella associated protein 61 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 3-methylcholanthrene; tunicamycin 20 20 20 p11.23 20107179 20415417 + 20033158 20341359 + 20052514 20360702 + 6480464;8554872 11780052;12477932;14702039;15489334;17967944;18029348;19240061;20379614;20467438 26074 C9J610;C9JA66;C9JHE8;C9JMV0;F8W6E2;F8WDF5;H0Y3Y7;Q8NHU2 ABBA01054080;ABBA01054081;ABBA01054082;ABBA01054083;ABBA01054084;ABBA01054085;ABBA01054086;ABBA01054087;ABBA01054088;AK057364;AK304174;AK307817;AL035454;AL049648;AL117439;AL121721;AL158849;AL161658;AMYH02036801;AMYH02036802;BC015959;BC028708;BC031674;CH471133;KF456848;NM_001167816;NM_015585;XM_005260688;XM_005260689;XM_005260690;XM_005260691;XM_005260692;XM_005260693;XM_005260694;XM_005260695;XM_005260696;XM_005260697 AAH28708;AAH31674;BAB71452;BAH14126;CAB55925;EAX10202;EAX10203;EAX10204;NP_001161288;NP_056400;Q8NHU2;XP_005260745;XP_005260746;XP_005260747;XP_005260748;XP_005260749;XP_005260750;XP_005260751;XP_005260752;XP_005260753;XP_005260754 Hs.729168 1643668;1644701;1652420;1654834;1671866;1711252;1767504;2121760;2135787;2138745 RH65785;RH69393;SHGC-37392;SHGC-84987;STS-N33550;STS-N35603;Z94394;Z94527;Z94594;Z94670 C20orf26;CaM-IP3;DKFZp434K156;dJ1002M8.3;dJ1178H5.4 OTTHUMP00000030381;OTTHUMP00000030383;OTTHUMP00000214505;hypothetical protein LOC26074;uncharacterized protein C20orf26 APPROVED protein-coding ENSG00000089101 HGNC:15872 16647 VALIDATED 1605631 CFAP69 cilia and flagella associated protein 69 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; calcitriol 7 7 7 q21.13 84578592 84644463 + 89874488 89940377 + 90245174 90311063 + 6480464 12477932;14702039;18288132;20379614;8889548 79846 A5D8W1;F8WBX7;H7BZV2;H7C002;H7C076;H7C3Z7;H7C468 ABBA01045840;ABBA01045841;AC002064;AK024715;AK093991;AK302636;AK303034;AL833446;AMYH02016239;AMYH02016240;AY349356;BC036351;BC132771;BC140742;BC141834;BC142655;BF112239;BU676209;CH236949;DC402406;NM_001039706;NM_001160138;XM_005250596;XM_005250597;XM_005250598;XM_005250599;XM_005250600;XM_006716129;XM_006716130;XM_006716131;XR_242264 A5D8W1;AAH36351;AAI32772;AAI40743;AAI41835;AAI42656;AAQ56720;BAB14972;BAG63878;BAG64159;NP_001034795;NP_001153610;XP_005250653;XP_005250654;XP_005250655;XP_005250656;XP_005250657;XP_006716192;XP_006716193;XP_006716194 Hs.657403 1670164;1735700;1800462;1803324;1806462;1806960;1807910;1808616;1808618;1808970;1809408;1809856;1809858;1810420;1812944;1814484;1815000;1816636;1820134;1820292;1821204;1822812;1823674;1824424;1825526;1829232;1829836;1830246;1830484;1831334;1831610;1832030;1832306;1832672;1833378;1833588;1833912;1834312;1835864;1836334;1836712;1836828;1837198;1837248;1837664;1838004;1838884;1839358;1840074;1840210;1840592;1840808;1841206;1843742;1843976;1844332;1844928;1845310;1846060;1846820;1858438;2070414;2070416;2070418;2070420;2070422;2070424;2070426;2070428;2070430;2070432;2070434;2070436;2070438;2070440;2070442;2070444;2070446;2070448;2070450;2070452;2070454;2070456;2070458;2070460;2070462;2070464;2070466;2070468;2070470;2070472;2070474;2070476;2070478;2070480;2070482;2070484;2070486;2070488;2070490;2070492;2070494;2070496;2070498;2070500;2070502;2070504;2070506;2070508;2070510;2070512;2070514;2070516;2070518;2070520;2070522;2070524;2070526;2070528;2070530;2070532;2070534;2070536;2070538;2070540;2070542;2070544;2070546;2070548;2070550;2070552;2070554;2070556;2070558;2070560;2070562;2070564;2070566;2070568;2070570;2070572;2070574;2070576;2070578;2070580;2070582;2070584;2070586;2070588;2070590;2070592;2070594;2070596;2070598;2070600;2070602;2070604;2070606;2070608;2070610;2070612;2070614;2070616;2070618;2070620;2070622;2070624;2070626;2070628;2070630;2070632;2070634;2070636;2070638;2070640;2070642;2070644;2070646;2070648;2070650;2070652;2070654;2070656;2070658;2070660;2070662;2070664;2070666;2070668;2070670;2070672;2070674;2070676;2070678;2070680;2070682;2070684;2070686;2070688;2070690;2070692;2070694;2070696;2070698;2070700;2070702;2070704;2070706;2070708;2070710;2070712;2070714;2070716;2070718;2070720;2070722;2070724;2070726;2070728;2070730;2070732;2070734;2070736;2070738;2070740;2070742;2070744;2070746;2070748;2070750;2070752;2070754;2070756;2070758;2070760;2070762;2070764;2070766;2070768;2070770;2070772;2070774;2070776;2070778;2070780;2070782;2070784;2070786;2070788;2070790;2070792;2070794;2070796;2070798;2070800;2070802;2070804;2070806;2070808;2070810;2070812;2070814;2070816;2070818;2070820;2070822;2070824;2070826;2070828;2070830;2070832;2070834;2070836;2070838;2070840;2070842;2070844;2070846;2070848;2070850;2070852;2070854;2070856;2070858;2070860;2070862;2070864;2070866;2070868;2070870;2070872;2070874;2070876;2070878;2070880;2070882;2070884;2070886;2070888;2070890;2070892;2070894;2070896;2070898;2070900;2070902;2070904;2070906;2070908;2070910;2070912;2070914;2070916;2070918;2070920;2070922;2070924;2070926;2070928;2070930;2070932;2070934;2070936;2070938;2070940;2070942;2070944;2070946;2070948;2070950;2070952;2070954;2070956;2070958;2070960;2070962;2070964;2070966;2070968;2070970;2070972;2070974;2070976;2070978;2070980;2070982;2070984;2070986;2070988;2070990;2070992;2070994;2070996;2070998;2071000;2071002;2071004;2071006;2194066;2194068;2194070;2194072;2194074;2194076;2194078;2194080;2194082;2194084;2194086;2194088;2194090;2194092;2194094;2194096;2194098;2194100;2194102;2194104;2194106;2194108;2194110;2194112;2194114;2194116;2194118;2194120;2194122;2194124;2194126;2194128;2194130;2194132;2194134;2194136;2194138;2194140;2194142;2194144;2194146;2194148;2194150;2194152;2194154;2194156;5014019;5015861;5019046;5020948;5022578;7185938 D10S16;D1S1423;D5S2354;D7S1641;D7S2152E;ECD01091;ECD02558;ECD04187;ECD04445;ECD04930;ECD05290;ECD05291;ECD05468;ECD05696;ECD05920;ECD05921;ECD06203;ECD07486;ECD08272;ECD08531;ECD09361;ECD11141;ECD11221;ECD11679;ECD12494;ECD12929;ECD13310;ECD13871;ECD15745;ECD16051;ECD16257;ECD16377;ECD16803;ECD16942;ECD17153;ECD17292;ECD17477;ECD17832;ECD17938;ECD18102;ECD18304;ECD19093;ECD19329;ECD19520;ECD19578;ECD19766;ECD19791;ECD19999;ECD20173;ECD20621;ECD20861;ECD21221;ECD21289;ECD21486;ECD21596;ECD21798;ECD23082;ECD23200;ECD23380;ECD23680;ECD23872;ECD24250;G17188;G35510;G43535;REN106398;REN106399;REN106400;REN106401;REN106402;REN106403;REN106404;REN106405;REN106406;REN106407;REN106408;REN106409;REN106410;REN106411;REN106412;REN106413;REN106414;REN106415;REN106416;REN106417;REN106418;REN106419;REN106420;REN106421;REN106422;REN106423;REN106424;REN106425;REN106426;REN106427;REN106428;REN106429;REN106430;REN106431;REN106432;REN106433;REN106434;REN106435;REN106436;REN106437;REN106438;REN106439;REN106440;REN106441;REN106442;REN106444;REN106445;REN106446;REN106447;REN106448;REN106449;REN106450;REN106451;REN106452;REN106453;REN106454;REN106455;REN106456;REN106457;REN106458;REN106459;REN106460;REN106461;REN106462;REN106463;REN106464;REN106465;REN106466;REN106467;REN106468;REN106469;REN106470;REN106471;REN106472;REN106473;REN106474;REN106475;REN106476;REN106477;REN106478;REN106479;REN106480;REN106481;REN106482;REN106483;REN106484;REN106485;REN106486;REN106487;REN106488;REN106489;REN106490;REN106491;REN106492;REN106493;REN106494;REN106495;REN106496;REN106497;REN106498;REN106499;REN106500;REN106501;REN106502;REN106503;REN106504;REN106505;REN106506;REN106507;REN106508;REN106509;REN106510;REN106511;REN106512;REN106513;REN106514;REN106515;REN106516;REN106517;REN106518;REN106519;REN106520;REN106521;REN106522;REN106523;REN106524;REN106525;REN106526;REN106527;REN106528;REN106529;REN106530;REN106531;REN106532;REN106533;REN106534;REN106535;REN106536;REN106537;REN106538;REN106539;REN106540;REN106541;REN106542;REN106543;REN106544;REN106545;REN106546;REN106547;REN106548;REN106549;REN106550;REN106551;REN106552;REN106553;REN106554;REN106555;REN106556;REN106557;REN106558;REN106559;REN106560;REN106561;REN106562;REN106563;REN106564;REN106565;REN106566;REN106567;REN106568;REN106569;REN106570;REN106571;REN106572;REN106573;REN106574;REN106575;REN106576;REN106577;REN106578;REN106579;REN106580;REN106581;REN106582;REN106583;REN106584;REN106585;REN106586;REN106587;REN106588;REN106589;REN106590;REN106591;REN106592;REN106593;REN106594;REN106595;REN106596;REN106597;REN106598;REN106599;REN106600;REN106601;REN106602;REN106603;REN106604;REN106605;REN106606;REN106607;REN106608;REN106609;REN106610;REN106611;REN106612;REN106613;REN106614;REN106615;REN106616;REN106617;REN106618;REN106619;REN106620;REN106621;REN106622;REN106623;REN106624;REN106625;REN106626;REN106627;REN106628;REN106629;REN106630;REN106631;REN106632;REN106633;REN106634;REN106635;REN106636;REN106637;REN106638;REN106639;REN106640;REN106641;REN106642;REN106643;REN106644;REN106645;REN106646;REN106647;REN106648;REN106649;REN106650;REN106651;REN106652;REN106653;REN106654;REN106655;REN106656;REN106657;REN106658;REN106659;REN106660;REN106661;REN106662;REN106663;REN106664;REN106665;REN106666;REN106667;REN106668;REN106669;REN106670;REN106671;REN106672;REN106673;REN106674;REN106675;REN106676;REN106677;REN106678;REN106679;REN106680;REN106681;REN106682;REN106683;REN106684;REN106685;REN106686;REN106687;REN106688;REN106689;REN106690;REN106691;REN106692;REN106693;REN106694;REN106695;STS-AA035745;stSG614497;stSG614498;stSG614499;stSG614500;stSG614501;stSG614502;stSG614503;stSG614504;stSG614505;stSG614506;stSG614507;stSG614508;stSG614509;stSG614510;stSG614512;stSG614513;stSG614514;stSG614515;stSG614516;stSG614517;stSG614518;stSG614519;stSG614520;stSG614521;stSG614522;stSG614523;stSG614524;stSG614525;stSG614526;stSG614527;stSG614528;stSG614529;stSG614530;stSG614531;stSG614532;stSG614533;stSG614534;stSG614535;stSG614536;stSG614537;stSG614538;stSG614539;stSG614541;stSG614542;stSG614543;stSG614544 C7orf63;FAP69;FLJ21062 OTTHUMP00000067737;OTTHUMP00000212899;hypothetical protein LOC79846;uncharacterized protein C7orf63 APPROVED protein-coding ENSG00000105792 HGNC:26107 08633 VALIDATED 1316851 CFAP70 cilia and flagella associated protein 70 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; copper atom; copper(0) 10 10 10 q22.2 68299139 68404237 - 75013516 75119425 - 73253758 73359745 - 737633;6480464;8554872 12477932 14702039;16385451;19056867 118491 Q5T0N1;X6R507;X6RID7 ABBA01020329;ABBA01020330;ABBA01020331;ABBA01020332;AC016394;AF435958;AF435959;AI458159;AK022235;AK098631;AK308746;AL512656;AL833537;AMYH02023331;AMYH02023332;BC032856;CH471083;NM_145170;XM_005269488;XM_005269489;XM_006717604;XM_006717605;XM_006717606;XM_006717607;XM_006717608;XM_006717609;XM_006717610;XM_006717611;XM_006717612;XM_006717613;XM_006717614;XR_428694;XR_428695 AAH32856;AAM20909;AAM20910;ADZ16039;BAC05358;CAH10391;EAW54488;EAW54489;EAW54490;EAW54491;EAW54492;NP_660153;Q5T0N1;XP_005269545;XP_005269546;XP_006717667;XP_006717668;XP_006717669;XP_006717670;XP_006717671;XP_006717672;XP_006717673;XP_006717674;XP_006717675;XP_006717676;XP_006717677 Hs.591367;Hs.720588 2176750;2181321;5022578;5037552 D1S1423;D8S2279;G30087;RH47852 FLJ12173;FLJ25765;RP11-152N13.6;TTC18 OTTHUMP00000019804;TPR repeat protein 18;tetratricopeptide repeat domain 18;tetratricopeptide repeat protein 18;tetratricopeptide repeat-containing protein;tetratricopeptide repeat-containing protein (LOC118491) APPROVED protein-coding ENSG00000156042 HGNC:30726 15583 VALIDATED 1604563 CFAP74 cilia and flagella associated protein 74 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH quercetin 1 1 1 p36.33 658422 708504 + 1853390 1935276 - 1921957 2003837 - 6480464;8554872 11214970;12477932;15489334;17974005;21555518 85452 Q9C0B2 AB051538;ABBA01016080;ABBA01016081;AK127388;AL109917;AL137547;AL391845;AMYH02000114;AMYH02000115;BC114926;BC139754;NM_001080484;XM_003119800;XM_005244811;XM_006710997;XM_006710998 AAI14927;AAI39755;BAB21842;BAC86954;CAH10703;NP_001073953;Q69YW0;Q9C0B2;XP_003119848;XP_005244868;XP_006711060;XP_006711061 Hs.232092;Hs.259619 1709090;1761953;5020948;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;G35510;L18426;SHGC-145889;SHGC-85696 C1orf222;FLJ45476;KIAA1751;RP1-140A9.6 OTTHUMP00000214968;hypothetical protein LOC85452;uncharacterized protein C1orf222;uncharacterized protein KIAA1751;uncharacterized protein LOC85452 APPROVED protein-coding ENSG00000142609 HGNC:29368 PROVISIONAL 1316452 CFAP97 cilia and flagella associated protein 97 INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 4 4 4 q35.1 183407734 183452112 - 186080815 186125182 - 185159661 185204028 - 737633;6480464 12477932 10718198;14702039;20360068;22505724;24554765;25015289 57587 D6RDU8;Q9P2B7 AB037851;ABBA01070528;AC073344;AC093592;AK024878;AK091993;AK130263;AL133615;AMYH02010659;AV709118;BC020772;BC030535;BM729997;CH471056;NM_001292033;NM_020827;XM_005263154;XM_005263155;XM_006714280 AAH20772;AAH30535;AAY40976;BAA92668;BAG52459;CAB63743;EAX04653;EAX04654;NP_001278962;NP_065878;Q9P2B7;XP_005263211;XP_005263212;XP_006714343 Hs.535734 1679199;1683241;5014023;5015861;5015961;5020881;5022450;5037552;7185938 D10S16;D10S275;D13S1553;D15S1477;D8S2279;L17709;RH92979;SHGC-67845 DKFZp434F1728;FLJ21225;KIAA1430;hmw OTTHUMP00000218267;UPF0501 protein KIAA1430;hypothetical protein LOC57587 APPROVED protein-coding ENSG00000164323 HGNC:29276 VALIDATED 8695362 CFAP99 cilia and flagella associated protein 99 4 4 4 p16.3 2332341 2375891 + 2420701 2464690 + 2418951 2462963 + 12477932 402160 ABBA01029505;ABBA01029506;ABBA01029507;ABBA01029508;AL645924;AMYH02008607;AMYH02008608;BC010180;HG496669;HG496670;HG496671;KF459867;NM_001193282;XM_006713885 NP_001180211;XP_006713948 Hs.443116 protein-coding ENSG00000249428 HGNC:51180 PROVISIONAL 1350557 CFB complement factor B This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33513483 33519623 + 31913721 31919861 + 31945944 31952084 + 1580863;2311335;2311338;6480464;6907045;7240710;7242700;7242704;7242707;7242734;734771;7242736;7242737;7242753;7242754;7242755;7242756;7242759;7242760;7242763;7242764;7242709;7365019;7411728;7411731;7411694;7411716;7411713;7411732;7411733;7421526;7421527;7411717;7401252;7411714;7411723;7411736;7411730;7421524;7411691;7411695;7411737;7411720;7411735;7421518;7421520;7421522;7411729;7411727;8554872 10623824;12091909;12538716;14510109;15274022;16467447;16849499;17024247;17182750;17385664;17522263;18325906;1837062;18806293;19000152;19001225;19696172;19899988;20065024;20218820;20806290;21216963;21893562;22232432;22273503;22492944;22714898;23112567;23233260;2329415;23864767;2609873;2783924;2803327;3118258;3183062;3272818;3875643;3907907;6342123;6559061;6610667;6900632;7921333;8567024 10072540;10072631;10610782;10637221;10861231;11341920;11367526;11367533;11803045;12477932;1445220;14574404;14656967;15174051;15199963;1545147;15489334;15582749;15648851;16061287;162484;16301317;16335952;16502470;16518403;17310251;17359931;17395591;17576744;17767156;17916747;17921140;18039777;18096230;18493315;18502988;18515590;18806297;18928972;18936151;18987644;19005416;19015224;19117936;19143814;19167759;19169232;19187590;19255449;19259132;19277984;19279234;19336475;19344414;19399715;19423540;19556007;19574954;19603351;19661236;19825847;19833879;19834535;19838195;19851445;19913121;20007824;2006911;20106822;20108004;20109314;20157618;20193965;20205591;20301541;20378180;20385819;20385826;20406964;20438785;20466734;20513133;20523265;20575108;20587610;20628086;20801516;20837143;20848568;20861866;20888482;21163532;21205667;21282580;21541267;21555552;21665990;21816153;21862585;21988832;22234447;2249879;22542119;22694956;22705344;22869612;22930722;23235567;23263863;23356914;23373431;23455636;23535732;23577725;23624872;23750785;24287422;24453474;24557084;279011;3052276;3140783;3315100;3643061;6149579;6308626;6323161;6342610;6546754;6957884;8125298;8181962;8225386;8247029;8648130;889587 629 B4E1Z4;C9JRT3;F8WBL9;H7C526;H7C5H1;P00751 ABBA01038099;AF019413;AF349679;AF551848;AK130533;AK223400;AK304042;AL645922;AL662849;AL701961;AL844853;AMYH02013456;BC004143;BC007990;BI258352;BX005143;CD689714;CH471081;CR388180;CR388219;CR759782;CR933857;DC368322;J00126;J00185;J00186;K01566;L15702;M15082;NG_008191;NM_001710;S67310;X00284;X72875 AAA16820;AAA36219;AAA36220;AAA36225;AAA36226;AAA59625;AAB67977;AAD13989;AAH04143;AAH07990;AAK30167;AAN71991;ABM83239;ABM86442;BAD97120;BAG64953;CAA25077;CAA51389;EAX03550;NP_001701;P00751 Hs.69771 1657861;1658938;1775756;1797338;2108419;2125057;2137638;2148070 C2_3011;RDBP_8772;RH15801;RH18075;RH46865;SGC32658;SHGC-12705;WI-8686 AHUS4;ARMD14;BF;BFD;CFAB;CFBD;FB;FBI12;FLJ54899;GBG;H2-Bf;PBF2 B-factor, properdin;C3 proaccelerator;C3 proactivator;C3/C5 convertase;OTTHUMP00000029283;glycine-rich beta glycoprotein;glycine-rich beta-glycoprotein;properdin factor B APPROVED protein-coding ENSG00000243649 HGNC:1037 00718 138470;603075;612924;615489;615561 REVIEWED 1353993 CFC1 cripto, FRL-1, cryptic family 1 This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 2 2 2 q21.1 3305 10052 + 131349738 131357148 - 130592165 130599575 - 1580863;6480464;7240710;8554872;8699517 10858660;11062482;11799476;12052855;12477932;15096953;15252450;15489334;15815621;17072672;17445335;18162845;18456715;18930707;19661783;19853937;20634891;21640172;7747776 55997 P0CG37 ABBA01142171;AC140481;AF312769;AF312925;AK290094;AK315326;AMYH02004797;AMYH02004798;BC069508;BC074825;BC074826;BC110080;BC146897;BG654700;BI793242;BM310214;BM509218;CA777249;CA941621;CA948246;DQ786275;JA283766;NG_008148;NM_001270420;NM_001270421;NM_032545 AAG30294;AAG42475;AAH69508;AAH74825;AAH74826;AAI10081;AAI46898;BAF82783;BAG37727;CCA65395;NP_001257349;NP_001257350;NP_115934;P0CG37 Hs.567542 1789258 G65628 CFC1B;DTGA2;FLJ77897;HTX2;MGC133213 OTTHUMP00000204816;cryptic;cryptic family protein 1;heterotaxy 2 (autosomal dominant) APPROVED protein-coding ENSG00000136698 HGNC:18292 05548 217095;605194;605376;613853 REVIEWED 2289769 CFC1B cripto, FRL-1, cryptic family 1B INVOLVED IN gastrulation (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); paracetamol (ortholog) 2 2 q21.1 131278667 131285565 + 130521094 130527992 + 6480464 8889548 653275 P0CG36 AC013269;AX277836;BM716751;BQ777283;BU784123;NM_001079530;XM_005263737;XM_005263738 AAY14955;CAD10661;NP_001072998;P0CG36;XP_005263794;XP_005263795 Hs.503733 1789258 G65628 OTTHUMP00000162396;cryptic family protein 1B protein-coding ENSG00000152093 HGNC:33983 VALIDATED 736531 CFD complement factor D (adipsin) The protein encoded by this gene is a member of the trypsin family of peptidases. The encoded protein is a component of the alternative complement pathway best known for its role in humoral suppression of infectious agents. This protein is also a serine protease that is secreted by adipocytes into the bloodstream. Finally, the encoded protein has a high level of expression in fat, suggesting a role for adipose tissue in immune system biology. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 784591 789264 + 859665 863624 + 859665 863624 + 1624328;1624324;1624327;1624344;1580863;6480464;6907045;7240710;8699517;8554872 10605043;14564690;2197880;8372111 10971122;12080056;12477932;1374388;15174051;16169070;162484;19056867;19336475;19344414;19538214;19699327;19913121;2023254;20628086;21139680;21205667;21612582;21890473;21906983;21963094;22003108;22362762;22930722;23956345;24598742;24995977;6363133;6383466;6459901;6776531;6821372;6987665;7592653;824769;8289289;9145127 1675 K7ERG9;P00746 ABBA01002605;AC112706;AC212840;AJ313463;AK300963;AMYH02035126;BC034529;BC040146;BC051001;BC057807;BG573629;BI763909;CH471139;CR536575;DQ884409;M84526;NG_007274;NM_001928 AAA35527;AAH34529;AAH40146;AAH51001;AAH57807;ABI63376;BAG62588;CAC48304;CAG38812;EAW69588;NP_001919;P00746 Hs.155597 1651442;1687916;1790333;2129489;2138199 DF;RH11724;RH41791;RH66738;SGC35258 ADN;DF;PFD ADIPSIN;C3 convertase activator;D component of complement (adipsin);complement factor D;complement factor D preproprotein;properdin factor D APPROVED protein-coding ENSG00000197766 HGNC:2771 00600 134350;613912 REVIEWED 1346060 CFDP1 craniofacial development protein 1 INVOLVED IN cell adhesion (inferred); multicellular organismal development (inferred); negative regulation of fibroblast apoptotic process (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; benzo[a]pyrene 16 16 16 q22.2-q22.3 59621931 59761694 - 75327608 75467387 - 75293710 75433489 - 1580863;6480464 10350657;10415329;11831036;11992732;12477932;15231748;15489334;16189514;19844255;21139048;21832049;21890473;21946350;22939629;23000965;23152477;23284291;24250222;24816145;8125298;9006920;9602175 10428 H3BQ17;J3KT89;Q9UEE9 AB004907;AB009269;AB009270;AB009285;ABBA01058129;ABBA01058130;ABBA01058131;ABBA01058132;ABBA01058133;ABBA01058134;AC009054;AC009163;AK226031;AK313948;AMYH02032397;AMYH02032398;AMYH02032399;AMYH02032400;AW160432;BC000991;BT009819;CH471114;CR542111;D85939;D86549;NM_006324 AAH00991;AAP88821;ABM81924;ABW03375;BAA20069;BAA20070;BAA31860;BAA31864;BAA31865;BAA31867;BAG36666;CAG46908;EAW95647;EAW95648;EAW95649;NP_006315;Q9UEE9 Hs.461361 1681857;1770289;2163782;2177192;5093058 A009E48;D16S3326;G32494;RH47797;SHGC-6782 BCNT;CENP-29;CP27;SWC5;Yeti;p97 BUCENTAUR;OTTHUMP00000174955;centromere protein 29;phosphoprotein (Bucentaur) protein-coding ENSG00000153774 HGNC:1873 16282 608108 VALIDATED 1344198 CFHL1P complement factor H-related 1 pseudogene 1711047 3079 X56210 HGNC:4889 1353869 CFH complement factor H This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011] 1 1 1 q32 169729995 169825611 + 196621008 196716634 + 196651878 196747504 + 1599886;1599888;1580863;5684553;5684557;5684551;5684552;5684556;5684555;5684554;6480464;6907045;7240710;7365022;5508764;7364950;7411728;7411726;7365010;7411695;7364944;7364945;7364948;7364987;7365021;7365036;7364943;7364986;7364958;7364988;7365005;7364901;7365031;7365033;7365034;7365035;7364947;7364952;7365019;7364999;7365030;7364990;7364995;7365002;7365014;7365023;8554872;8662318;8699517;8662319 10577907;12911541;15973109;16379025;16710702;16877387;17263982;17344423;17456821;17517971;18403050;18515590;18936151;19001225;19009024;19212187;19828624;20132852;20351616;20484586;20538296;21467172;21618592;21637784;21695352;21871809;21909106;22019782;22104107;22171659;22491393;22536038;22678500;22714898;22815489;22871478;23258212;23296223;23362846;23497844;23534868;23864767;23938460;2973157 10377245;10380701;10490997;10762557;10781834;10803850;11116141;11158219;11170895;11170896;11367528;11367530;11367533;11446651;11446652;11644971;11825898;11851332;11921353;12020532;12391176;12424708;12471127;12477932;12630812;12960213;1401896;14583443;14638802;14702039;14760718;14974950;15163532;15174051;1533152;15331938;15342556;15489334;15557185;15634279;15749837;15754282;15761120;15761121;15761122;15784724;15870199;15895326;16170519;16174643;16192651;16229850;16263173;16267773;16299065;16300415;16310045;16335952;16341674;16386793;16431947;16470555;16519819;16528247;16533809;16541016;16612335;16621965;16630992;16642439;16710414;16723442;16730735;16751403;16754848;16774956;16785547;16787919;16816528;16828512;16849663;16865697;16885922;16889549;16905558;16909242;16919753;16936080;16936129;16936732;16936733;16954704;17000705;17003406;17022693;17056561;17076561;17079491;17132743;17137217;17151483;17157600;17167412;17198853;17208302;17210851;17210852;17210858;17229916;17241667;17266113;17285240;17293598;17306880;17314151;17339482;17352366;17360715;17362990;17396242;17398321;17399790;17426452;17438519;17438673;17442969;17464302;17472578;17483111;17548524;17558024;17562771;17580967;17591618;17591627;17591866;17599974;17631852;17679948;17697822;17699195;17724217;17767156;17846368;17846371;17869048;17877809;17915330;17959597;17962488;17973958;17995985;17999207;18005991;18006700;18039838;18050121;18054635;18067970;18070148;18081690;18081691;18093091;18161619;18162041;18163432;18164066;18183578;18190458;18203751;18211923;18223247;18235016;18235085;18248681;1826264;18263814;1826708;18268093;1828229;1829116;18292569;18292760;18292785;18316707;18325906;18336910;18340363;18362109;18378209;18406463;18413232;18421087;18422436;18423869;18433936;18436811;18452766;18461138;18493315;18502988;18538409;18541031;18566420;18596911;18604638;18624398;18627285;18627465;18658028;18676680;18682806;18682812;18704199;18718667;18762075;18766990;18784628;18786923;18787502;18824548;18852870;18855541;18939352;18976665;18979363;18996904;19000922;19003634;19005013;19015224;19019939;19025119;19029036;19047406;19048105;19050261;19074778;19076828;19091853;19092117;19098018;19112495;19117936;19124749;19144569;19162324;19166692;19168221;19169230;19169232;19170196;19187590;19187823;19197355;19202148;19204088;19242507;19259132;19299737;19306911;19308255;19336370;19336475;19344414;19351878;19388158;19399715;19428307;19454698;19503104;19505474;19505476;19508377;19531976;19540598;19541934;19549636;19567623;19568762;19625176;19646183;19680263;19680273;19692124;19692168;19703145;19704120;19796758;19797206;19822851;19822855;19823576;19825847;19833879;19835885;19845562;19850343;19850835;19850925;19861685;19878322;19899988;19913121;19948975;19951950;20007824;20008295;20038862;20042647;20042653;20059470;20106822;20127520;20132989;20157618;20161521;20163251;20181037;20237496;20238042;20299368;20301541;20301598;20304497;20346514;20378178;20378180;20381870;20385334;20385819;20385826;20394361;20504767;20513133;20513355;20523265;20534299;20538655;20574013;20576771;20580090;20581873;20588308;20595690;20605213;20606025;20622116;20626361;20628086;20646335;20658973;20660596;20664795;20678803;20688737;20694013;20703214;20708732;20711705;20730046;20734203;20736788;20801516;20823202;20841369;20843825;20854881;20855886;20861866;20863311;20865640;20865641;20869121;20878164;20881291;20888482;21106043;21111031;21146613;21153520;21158586;21163532;21167605;21232084;21270465;21282580;21325619;21339361;21396937;21397333;21399633;21402993;21435440;21503575;21531728;21555552;21558292;21574022;21640790;21642625;21649859;21659506;21665990;21677636;21697597;21717289;21743006;21790300;21793561;21816153;21817962;21825189;21856016;21868097;21881555;21882633;21896867;21930971;21936007;21979047;21988832;22022419;22035603;22059990;22065918;22065928;22088229;22133792;22136554;22140259;22153652;22182977;22197220;22253316;22259222;22293892;22300950;22302353;22320225;22355348;22426290;22471560;22486323;22487577;22514678;22526676;22570352;22628306;22669321;22694956;22705344;22786770;22840423;22848687;22875704;22876110;22905135;22922817;22933840;22936692;22956584;22965593;22969267;22977134;23017427;23028341;23070659;23071278;23098369;23110143;23111182;23112567;23195022;23209669;23233260;23235303;23235567;23243267;23289807;23289808;23306536;23326517;23332154;23337555;23356914;23365078;23365660;23376722;23381943;23385359;23390291;23414945;23423485;23441108;23455636;23494043;23562165;23577725;23596508;23620142;23637600;23637608;23658013;23660864;23661701;23662819;23687431;23701234;23702979;23747994;23840815;23844226;23863906;23867343;23867466;23873044;23880784;23922956;23966370;23972322;23991205;24008159;24014239;24080590;24083687;24113783;24221349;24280833;24344133;24365176;24391822;24440287;24453474;2445583;24534755;24557084;24586071;24612979;24632373;24664701;24692129;24906858;2527799;2529127;2889480;2937845;2946589;2952588;2963625;2968404;2968949;2977721;3782802;6215918;7492444;7535292;7576914;7590866;7893437;8125298;8172644;8331663;8663389;9291131;9312129;9551389;9558116;9988761 3075 P08603;Q5TFM2 ABBA01027599;ABBA01027600;ABBA01027601;ABBA01027602;AC244132;AI568119;AK225649;AK226113;AK291395;AL049744;BC012610;BC037285;BC073982;BC110643;BC142699;BM842566;BP324193;CH471067;DQ233256;KF455126;KF455128;M12383;M17517;M65294;NG_007259;NM_000186;NM_001014975;U56979;X04697;X07523;XM_006711282;XM_006711283;Y00716;Z29665 AAA35948;AAA52013;AAA52016;AAB01987;AAH37285;AAI10644;AAI42700;ABB02180;ADZ15369;BAF84084;CAA30403;CAA68704;CAA82763;CAB41739;EAW91260;EAW91261;NP_000177;NP_001014975;P08603;XP_006711345;XP_006711346 Hs.363396 1334539;1664903;1694712;1695018;1774761;2166826;5107623;5115277 AL009841;D1S2816;D1S3541;G16258;G43547;G44722;SGC31488;SHGC-76080 AHUS1;AMBP1;ARMD4;ARMS1;CFHL3;FH;FHL1;HF;HF1;HF2;HUS;MGC88246 H factor 1 (complement);H factor 2 (complement);OTTHUMP00000033598;OTTHUMP00000034106;adrenomedullin binding protein;age-related maculopathy susceptibility 1;beta-1-H-globulin;beta-1H;complement factor H, isoform b;factor H;factor H-like 1 APPROVED protein-coding ENSG00000000971 HGNC:4883 00601 126700;134370;235400;609814;610698 REVIEWED 1606035 CFHR2 complement factor H-related 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; cyclosporin A 1 1 1 q31.3 170027001 170053828 + 196912888 196928356 + 196943759 196959226 + 6480464;8554872 10380701;12477932;1533657;15489334;16710414;1711047;17438673;18541031;20059470;20237496;21832049;24260121;24334459;7672821;8172644 3080 P36980;V9GYE7 ABBA01027597;AC245455;AL139418;AX772812;BC022283;BG566607;CH471067;HC920157;NM_005666;X64877;X86564;X86565;X86566;X86567;XM_005245113;XM_006711285 AAH22283;ABM82331;ABM85508;CAA46096;CAA60375;CAE06255;CBN73474;EAW91267;NP_005657;P36980;XP_005245170;XP_006711348 Hs.632450 1651893;2157522;2217420 HFL3_2992;RH79164;SHGC-76083 CFHL2;DDESK59;FHR-2;FHR2;HFL3 H factor (complement)-like 3;OTTHUMP00000034673;complement factor H-related protein 2;factor H-related gene 2;h factor-like 3;h factor-like protein 2 protein-coding ENSG00000080910 HGNC:4890 02933 600889 VALIDATED 1346225 CFHR1 complement factor H-related 1 This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009] 1 1 1 q32 179323256 179323617 - 196788861 196801319 + 196819731 196832189 + 1580863;6480464;7240710;8554872 10380701;10408366;10781834;12477932;15489334;15557185;16239506;16335952;16710414;16998489;1711047;17367211;17438673;17538892;18006700;18039838;18084039;1825108;1826708;18824548;19308255;19344414;19435718;19531976;19553609;19745068;19861685;19913121;20008295;20059470;20237496;20301541;20581873;20628086;20843825;20855886;20865640;21399633;21637784;21677636;21677662;21850184;21856016;21988832;22136554;22247456;22558131;22626820;22786770;22848687;23028341;23071278;23243267;23728178;23873044;23880784;23938460;24280833;24557084;8172644;8663389 3078 B1AKG0;Q03591 ABBA01044657;AC244132;AC245455;AI075816;AK290830;AL049741;BC016755;BC107771;BG568702;HC920155;M65292;M65293;NG_013060;NM_002113;X56209;X56210;XM_006711284 AAA35946;AAA35947;AAH16755;AAI07772;ABM83688;ABM86991;BAF83519;CAA39666;CAA39667;CBN73473;NP_002104;Q03591;XP_006711347 Hs.575869 1695018 G44722 CFHL;CFHL1;CFHL1P;CFHR1P;FHR-1;FHR1;H36;H36-1;H36-2;HFL1;HFL2;MGC104329 H factor (complement)-like 1;H factor (complement)-like 2;H-factor-like 1;OTTHUMP00000034408;OTTHUMP00000034409;complement factor H-related 1 pseudogene;complement factor H-related protein 1;h factor-like protein 1 APPROVED protein-coding ENSG00000244414 HGNC:4888 00602 134371;235400;603075 REVIEWED 1351940 CFHR4 complement factor H-related 4 This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011] 1 1 1 q32 169971227 170001824 + 196857144 196887843 + 196888014 196918862 + 1580863;6480464;8554872 10380701;10622723;12477932;15489334;15562282;17438673;18541031;18624398;19084272;19861685;20042240;20059470;20181037;20237496;20301541;21399633;21637784;22518841;23381943;23577725;9038172;9476126 10877 Q92496;V9GYX2 ABBA01027598;AC245455;AF190816;AJ640130;AK292752;AL049741;AL139418;BC074957;BX248415;CH471067;HC920161;NG_028159;NM_001201550;NM_001201551;NM_006684;X98337;XM_006711128;XM_006711129;XM_006711130;XM_006711131;XM_006711132;XM_006711133;XM_006711134 AAF05951;AAH74957;BAF85441;CAA66980;CAG26679;CBN73476;EAW91265;EAW91266;NP_001188479;NP_001188480;NP_006675;Q92496;XP_006711191;XP_006711192;XP_006711193;XP_006711194;XP_006711195;XP_006711196;XP_006711197 Hs.710100 1651050;2217330;5106175 FHR-4_2982;SHGC-76076;SHGC-76077 CFHL4;FHR-4;FHR4;RP4-608O15.2 OTTHUMP00000034809;OTTHUMP00000034810;complement factor H related 4;complement factor H-related protein 4;factor H-related gene 4 APPROVED protein-coding ENSG00000134365 HGNC:16979 05627 605337 REVIEWED 1342616 CFHR3 complement factor H-related 3 The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 1 1 1 q32 169852903 169872169 + 196743925 196763203 + 196774800 196794073 + 1580863;6480464;7240710;8554872 10380701;10622723;10781834;12477932;15489334;16710414;16998489;17207965;17367211;17438673;18006700;18084039;19531976;19553609;19861685;20059470;20237496;20301541;20581873;20592223;20694013;20843825;21399633;21637784;21677662;21850184;21856016;21988832;22058112;22558131;22626820;22848687;23028341;24557084;8172644;8428964 10878 Q02985;Q6NSD3 ABBA01044650;ABBA01044651;ABBA01044652;ABBA01044653;AC244132;AK298459;AL049741;BC020680;BC020687;BC058009;BC070259;BG618529;CH471067;HC920159;NG_015993;NM_001166624;NM_021023;X68679;XR_241062;XR_426756;XR_426757;XR_426758 AAH20687;AAH58009;AAH70259;ADQ32035;BAG60672;CAA48639;CBN73475;EAW91262;EAW91263;EAW91264;NP_001160096;NP_066303;Q02985 Hs.709217 1651050;2108097;2217330 FHR-3_7981;FHR-4_2982;SHGC-76077 CFHL3;DOWN16;FHR-3;FHR3;HLF4 H factor-like 4;H factor-like protein 3;OTTHUMP00000034107;OTTHUMP00000230947;complement factor H-related protein 3 APPROVED protein-coding ENSG00000116785 HGNC:16980 05626 235400;603075;605336 REVIEWED 1349013 CFHR5 complement factor H-related 5 This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010] 1 1 1 q31.3 170072138 170104273 + 196946667 196978804 + 196977537 197009674 + 1580863;6480464;8699517;7240710;8554872 11058592;11414752;11774097;12041828;12477932;15489334;15879123;16299065;16344560;17000000;17438673;18541031;18976975;19344414;19365580;20059470;20237496;20301598;20513133;20800271;21399633;21566112;22065842;22622361;23235567;23381943;23402027;23577725;24334459 81494 Q9BXR6 ABBA01027596;ABBA01027597;AF295327;AK314026;AL139418;AL353809;AMYH02002428;BC026282;BC111773;BG568555;CH471067;DA638244;HC920163;NG_016365;NM_030787 AAH26282;AAI11774;AAK15619;BAG36736;CBN73477;EAW91268;NP_110414;Q9BXR6 Hs.282594 CFHL5;CFHR5D;FHR-5;FHR5;FLJ10549;MGC133240 OTTHUMP00000034672;complement factor H-related protein 5;factor H-related protein 5 APPROVED protein-coding ENSG00000134389 HGNC:24668 06508 608593;614809 REVIEWED 736809 CFI complement factor I This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uraemic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is another condition associated with mutation of this gene. [provided by RefSeq, Jul 2008] 4 4 4 q25 107955508 108016895 - 110661848 110723381 - 109740692 109802225 - 1580863;6480464;6906892;6907045;6906889;7240710;8662321;8554872;8699517;8662313;8662317;8662315;8662318 15173250;18202746;22815349;23685748;23727008;23900096;2973157 12477932;1401896;14702039;14760718;14761935;14967308;15210795;15342556;15835912;16335952;16386793;16502470;16621965;16920989;17018561;17055788;17067565;17106690;17320177;17482181;17548110;17597211;17599974;18029348;18374984;18544012;18566438;18658028;18685559;18701018;18805611;18825487;19056867;19065647;19423168;19661236;19693526;19861685;19877009;20016463;20044478;20059470;20087399;20106822;20301541;20332099;20379614;20385819;20385826;20513133;20888482;21316765;21665990;21768352;21936007;22223611;22258234;22393059;22514678;22594569;22678500;22705344;22710145;22926405;23235567;23455636;23519521;23688582;23722394;23731345;23864651;24036952;24142231;24204828;2563353;2954545;2956252;7672128;8604219;8613545;8648130;9291131;9479036;9605165 3426 A8K3L0;D6R9Z8;E7ETH0;G3XAM2;P05156 ABBA01063783;ABBA01063784;ABBA01063785;AC126283;AF005095;AK122686;AK290625;AK299232;AMYH02009901;BC005275;BC020718;BM955734;BP235907;CH471057;DC392360;J02770;N63668;NG_007569;NM_000204;XM_005262975;XM_005262976;XM_006714209;XM_006714210;Y00318 AAA52455;AAC08733;AAH20718;BAF83314;BAG61264;CAA68416;CAA68417;CAA68418;EAX06250;EAX06251;EAX06252;NP_000195;P05156;XP_005263032;XP_005263033;XP_006714272;XP_006714273 Hs.312485 1646504;1662211;1772871;2127541;2129609;2179996;2217476;5126461 D4S3129;G33805;IF_2671;SHGC-19817;SHGC-19819;SHGC-19821;SHGC-59752;SHGC4-316 AHUS3;ARMD13;C3BINA;C3b-INA;FI;IF;KAF C3B/C4B inactivator;C3b-inactivator;Konglutinogen-activating factor;OTTHUMP00000219728;OTTHUMP00000221928;complement component I;complement control protein factor I;complement factor I heavy chain;light chain of factor I APPROVED protein-coding ENSG00000205403 HGNC:5394 01955 217030;610984;612923;615439 REVIEWED 732970 CFL1 cofilin 1 (non-muscle) The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin cytoskeleton. Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM, Apr 2004] 11 11 11 q13 62946188 62949710 - 65622282 65625804 - 65854811 65858333 - 1580863;6480464;8554872 10366597;10436159;10613909;11090694;11139403;11294912;11340065;11418599;11707283;11747431;11812157;11832213;11925442;11950878;12049672;12207032;12323073;12359716;12361576;12477932;12665801;12684437;12791392;12837278;12904289;12963706;14607843;14627701;14634665;14702039;14718574;14733918;15159416;15161933;15213453;15220930;15485906;15489334;15592455;15598710;15647284;15660133;15671020;15719172;15816841;15952740;16009940;16061204;16130169;16169070;16189514;16278681;16301112;16396496;16456544;16526095;16548883;16713569;16815975;16916647;16964243;17081983;17088134;17110338;17196218;17352815;17353931;17500066;17572668;17583572;17620599;18096821;18716285;18775311;18781797;18808680;18809681;18937355;18952063;18987670;19000834;19110265;19190083;19199708;19223396;19339277;19403692;19471022;19483084;19546591;19556892;19567672;19654210;19683683;19734890;19738201;19802004;19946888;19997845;20000738;20029029;20095995;20133759;20147394;20381070;20471030;20472933;20473970;20558337;20564088;20639865;20646534;20676060;20713416;20729910;20819441;20838616;20842205;20873970;21044950;21045147;21139048;21163940;21179570;21237490;21319273;21469165;21571222;21647301;21723825;21735353;21800051;21853274;21875597;21890473;21894436;21900206;21906983;21923909;21963094;21987572;22053931;22145905;22212282;22270398;22304920;22345165;22450169;22505724;22537596;22623428;22623727;22623803;2263493;22689060;22742733;22863883;22939629;22952844;22990118;23000965;23064469;23184937;23227181;23294842;23320827;23338717;23362981;23395798;23398456;23402259;23463506;23505076;23535729;23702034;23725790;23737525;23831569;23911787;23999301;24003227;24018823;24023293;24106833;24163370;24418541;24425731;24454796;24457600;24583282;24631019;24654937;24816145;25015289;7552146;8037689;8195165;8482351;8800436;8806458;8824278;8889548;8892894;9655398 1072 E9PK25;E9PLJ3;E9PP50;E9PQB7;E9PS23;G3V1A4;P23528;V9HWI5 ABBA01024098;AK097690;AMYH02024966;AP001266;BC011005;BC012265;BC012318;BC018256;BC024975;BT006846;CB850882;CH471076;D00682;EU794603;NM_005507;U21909;X95404 AAA64501;AAH11005;AAH12265;AAH12318;AAH18256;AAP35492;ABM82695;ABW03425;ACJ13657;BAA00589;BAG53513;CAA64685;EAW74448;EAW74449;EAW74450;EAW74451;EAW74452;NP_005498;P23528 Hs.170622 2146547;5125074;5491593 MARC_23793-23794:1027526010:3;RH48139;RH79826 CFL;HEL-S-15;p18 18 kDa phosphoprotein;OTTHUMP00000233679;OTTHUMP00000233680;OTTHUMP00000233681;OTTHUMP00000233682;OTTHUMP00000233740;OTTHUMP00000233741;OTTHUMP00000233742;cofilin 1;cofilin, non-muscle isoform;cofilin-1;epididymis secretory protein Li 15 APPROVED protein-coding ENSG00000172757 HGNC:1874 03261 601442 REVIEWED 1603578 CFL1P1 cofilin 1 (non-muscle) pseudogene 1 10 10 10 q23.31 83324551 83351850 + 89578070 89605369 + 87818313 87845612 + 12477932 142913 ABBA01021961;AC022016;AMYH02023500;BC031631;NR_028492 ABM82205;ABM85393 Hs.369431 1340411;1787314 D10S1765;SHGC-152843 CFLP1;MGC35136 APPROVED pseudo ENSG00000223820 HGNC:28560 VALIDATED 1349136 CFL1P3 cofilin 1 (non-muscle) pseudogene 3 1 1 1 p31.3 62598529 62599345 - 64308662 64309478 - 63842991 63843807 - 100131874 ABBA01074566;AL161742;AMYH02001159;NG_008819;NG_032801 1751889 SHGC-105854 CFLL3;CFLP3 APPROVED pseudo HGNC:1879 INFERRED 1351791 CFL1P4 cofilin 1 (non-muscle) pseudogene 4 1 1 1 q43 215412250 215412927 + 242156508 242157185 + 241993206 241993883 + 645980 ABBA01033264;AMYH02003042;BX571673;NG_008824 1779926;2130063 G16216;SHGC-154177 CFLL4;CFLP4 APPROVED pseudo HGNC:1880 INFERRED 1344248 CFL1P5 cofilin 1 (non-muscle) pseudogene 5 5 5 5 q13.2 65611206 65612300 - 68608686 68609780 - 69312859 69313953 - 1074 ABBA01048278;AC145132;AC145145;AMYH02011472;NG_008755 CFLL1;CFLP5 APPROVED pseudo HGNC:1877 INFERRED 1349932 CFL1P2 cofilin 1 (non-muscle) pseudogene 2 1 1 1 p32.3 49909845 49910740 - 51623117 51624212 - 51157445 51158540 - 391039 ABBA01074813;AL162430;AMYH02000995;NG_008615 CFLL2;CFLP2 APPROVED pseudo HGNC:1878 INFERRED 5131386 CFL1P7 cofilin 1 (non-muscle) pseudogene 7 3 3 3 p24 25301917 25302393 + 25365610 25367268 + 25324119 25325777 + 100505919 ABBA01025020;AC098477;AMYH02006422;NG_028939 pseudo HGNC:39959 INFERRED 6483487 CFL1P6 cofilin 1 (non-muscle) pseudogene 6 1 1 1 p36.22 10158191 10164162 - 11045887 11051854 - 10985830 10991797 - 22327514 390996 ABBA01003030;ABBA01003031;AL358492;AMYH02000279;NG_032826 CFLP6 pseudo HGNC:34545 INFERRED 6481574 CFL1P8 cofilin 1 (non-muscle) pseudogene 8 13 13 100234962 100235420 + 99582708 99583166 + 100873812 ABBA01027117;AL139035;AMYH02028592;NG_032369 pseudo HGNC:39960 INFERRED 1315906 CFL2 cofilin 2 (muscle) This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 14 14 14 q12 15043756 15048197 - 35179588 35184029 - 34710382 34714823 - 1580863;6480464;7240710;8554872;8699517 10461190;11422377;11809832;11827452;12049672;12477932;12684437;15489334;15951569;16189514;16344560;16526095;16530787;17081983;17160903;17572668;18775311;18808680;18928553;19683683;19752190;20301465;20347121;20639865;20801873;20842205;21139048;21853274;21890473;21894436;21906983;21963094;21987572;22053931;22158895;22450169;22505724;22560515;22939629;23000965;23294842;23395798;23398456;23463506;24023293;24610938;8800436;8824278;8889549;9655398 1073 F8WDN3;G3V2U0;Q549N0;Q9Y281 ABBA01061483;AF087867;AF134802;AF134803;AF242299;AF283513;AI754134;AK314157;AL117457;AL355885;AL599958;AMYH02028993;BC011444;BC022364;BC022876;BC025683;CB992605;CH471078;DA298739;DA897112;DB378917;NG_012740;NM_001243645;NM_021914;NM_138638;NR_028130;NR_028131 AAD31280;AAD31281;AAF64498;AAF97934;AAH11444;AAH22364;AAH22876;AAM10495;ACE87051;ACE87733;BAG36842;EAW65908;EAW65910;EAW65911;EAW65912;NP_001230574;NP_068733;NP_619579;Q9Y281 Hs.180141 1697704;1736408;1783022;2152343;2187462;2190519;5123523;7185251;7185254 D14S1299;D14S1319;D14S664E;EST14A7;RH102370;RH44744;SHGC-132145 NEM7 OTTHUMP00000178805;OTTHUMP00000178806;OTTHUMP00000244200;OTTHUMP00000244201;cofilin, muscle isoform;cofilin-2;nemaline myopathy type 7 APPROVED protein-coding ENSG00000165410 HGNC:1875 03262 601443;610687 REVIEWED 1353551 CFLAR-AS1 CFLAR antisense RNA 1 2 2 q33 202004881 202022515 - 201140289 201157792 - 11586298 65072 AB053312;ABBA01062535;ABBA01062536;AC007283;AMYH02005548;HG495122;HG495123;NR_040030 Hs.664613 ALS2CR10 APPROVED ncrna ENSG00000226312 HGNC:14437 VALIDATED 1344573 CFM1 cystic fibrosis modifier 1 ASSOCIATED WITH CYSTIC FIBROSIS, MODIFIER OF, 1 (inferred); Meconium ileus (inferred) 7240710;8699517 8589719 10167 1730105 D19S112 HGNC:1881 603855 1353272 CFM2 cystic fibrosis modifier 2 23727 HGNC:1882 1347509 CFLAR CASP8 and FADD-like apoptosis regulator The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011] 2 2 2 q33-q34 195735441 195783644 + 201980877 202037411 + 201116154 201172688 + 1580863;4143170;4143196;4143171;6480464;6484113;6907045;8662854 17403612;19107989;19239902;19961901 10069390;10200473;10227994;10329646;10837247;11002417;11161814;11193041;11741985;11830587;11877293;11940602;11965497;12031968;12060768;12097160;12115181;12215447;12220669;12393527;12407100;12432255;12477932;12477972;12496285;12496481;12496482;12552004;12556488;12574377;12592338;12716387;12746452;12761501;12820373;12887920;13679070;14562111;14578361;14637155;14662022;14759258;15024054;15078899;15096587;15183989;15258564;15273717;15280356;15297424;15304499;15334061;15354734;15459191;15485835;15489334;15540114;15557152;15644494;15653751;15686714;15701649;15701651;15722350;15731171;15760909;15761846;15815586;15832422;15843523;15864316;15886205;15899875;15917295;15956881;16014121;16052233;16052516;16077198;16211288;16246840;16247474;16298825;16304056;16403915;16436054;16441226;16472594;16537561;16611896;16712791;16720717;16740746;16901543;17003335;17047155;17056549;17070520;17106251;17110930;17159907;17272514;17353931;17376892;17440816;17441421;17450141;17513603;17559541;17573774;17581950;17638906;17646662;17659339;17697742;17726263;17762208;17912957;17922291;17932249;17982483;17988665;18073330;18084329;18189268;18202225;18243739;18257744;18264131;18314443;18339897;18391984;18398344;18414015;18509086;18559494;18593367;18603835;18726983;18767116;18820704;18823309;18838202;18840411;18976975;19090833;19109151;19115040;19161534;19177145;19203346;19223508;19243385;19249545;19282655;19321593;19339247;19343040;19363595;19372246;19398149;19409438;19433309;19439735;19476635;19543235;19573080;19604093;19710364;19728335;19734124;19773279;19798106;19802016;19808964;19816511;19838173;19890350;19896469;19906927;19913121;19949310;19956887;20016063;20087343;20218968;20224598;20227749;20335528;20372864;20449949;20453000;20484045;20508645;20561424;20568250;20595005;20628086;20628624;20689807;20696707;20802294;20812013;20876284;20876774;20882347;20975036;21048031;21071136;21107885;21153369;21307400;21324892;21394196;21403465;21435442;21454681;21474069;21480219;21483669;21525012;21562857;21638304;21691254;21737329;21803845;21822306;21856935;21868755;21890473;21912376;21988832;22027693;22072062;22126763;22190004;22219201;22266862;22288650;22322857;22345097;22393362;22504646;22683265;22753273;22781394;22842544;22864571;22884570;22948392;23028678;23142077;23167276;23230268;23235765;23247197;23255321;23256568;23319802;23322903;23371318;23483900;23518915;23519470;23615398;23696271;23853530;24005232;24390342;24398693;24438025;24711168;24909691;8889548;9208847;9211860;9217161;9219695;9228018;9289491;9325248;9326610;9380701;9560245;9575181;9880531;9990034 8837 B4E361;C9J408;C9J4Q0;C9JSU3;C9JV51;E9PAP3;F8WBH9;M0QY57;M0QYM0;M0R1A8;O15519 AB038972;AB209600;ABBA01062535;ABBA01062536;AC007283;AF005774;AF005775;AF009616;AF009617;AF009618;AF009619;AF010127;AF015450;AF015451;AF015452;AF041458;AF041459;AF041460;AF041461;AF041462;AK124664;AK125394;AK289913;AK296036;AK297387;AK304585;AK308767;AK315208;AK315924;AL365413;AMYH02005548;AMYH02005549;BC001602;BM969271;BT006751;BX457155;CB148618;CD699251;CH471063;DC321068;JA362598;NG_029005;NM_001127183;NM_001127184;NM_001202515;NM_001202516;NM_001202517;NM_001202518;NM_001202519;NM_003879;U85059;U97074;U97075;XM_005246935;XM_005246936;XM_005246937;XM_005246938;Y14039;Y14040 AAB64110;AAB70909;AAB70910;AAB70911;AAB70912;AAB82648;AAB99790;AAB99791;AAB99792;AAB99793;AAB99794;AAC15825;AAC15826;AAC16439;AAC16440;AAC16441;AAC51622;AAC51623;AAH01602;AAP35397;AAY24290;ABM84686;ABM92209;BAB32551;BAB32552;BAD92837;BAF82602;BAG37645;BAG58802;BAG59828;BAG65373;BAH14295;CAA74366;CAA74367;CCA94581;EAW70235;EAW70236;EAW70237;EAW70238;EAW70239;EAW70240;EAW70241;EAW70242;EAW70243;EAW70244;EAW70245;NP_001120655;NP_001120656;NP_001189444;NP_001189445;NP_001189446;NP_001189447;NP_001189448;NP_003870;O15519;XP_005246992;XP_005246993;XP_005246994;XP_005246995 Hs.390736;Hs.731912 1668316;1676872;1680723;1697558;1709896;1728873;1846981;1849295;1857500;2182226;2190981;2217146;5015615;5016596;5020274;5021872;5024736 A008B37;CFLAR_2686;D11S3076;D2S2141;G54454;GDB:631802;L18441;MARC_12239-12240:1005141928:1;RH102289;RH45502;RH68847;RH79734;RH79972;RH98318;SHGC-84793;WI-12098;sY3084 CASH;CASP8AP1;CLARP;FLAME-1;FLAME1;FLIP;I-FLICE;MRIT;c-FLIP;c-FLIPL;c-FLIPR;c-FLIPS Casper;FADD-like anti-apoptotic molecule;FADD-like antiapoptotic molecule 1;FLAME;MACH-related inducer of toxicity;OTTHUMP00000163715;OTTHUMP00000206475;OTTHUMP00000206476;OTTHUMP00000206478;OTTHUMP00000206479;OTTHUMP00000206480;OTTHUMP00000206482;OTTHUMP00000207360;caspase homolog;caspase-eight-related protein;caspase-like apoptosis regulatory protein;caspase-related inducer of apoptosis;cellular FLICE-like inhibitory protein;inhibitor of FLICE;usurpin beta APPROVED protein-coding ENSG00000003402 HGNC:1876 04671 603599 REVIEWED 1348885 CFNS craniofrontonasal syndrome (craniofrontonasal dysplasia) ASSOCIATED WITH Craniofrontonasal dysplasia (inferred) 7240710 9302274 HGNC:1883 304110 1351689 CFP complement factor properdin This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009] X X X p11.4 51678874 51684967 - 47483612 47489704 - 47624213 47630305 - 1580863;6480464;8554872;8699517 10861231;10878002;10909851;11090881;11513971;11733037;12096136;12477932;12493642;1417780;1431505;14702039;15199963;15489334;15772651;162484;16335952;16337490;16344560;1783405;18490764;18579773;18753294;18791942;19005416;19204726;19322201;19584655;19913121;19934084;2009915;20122735;20337960;20382442;20530262;20628086;21135110;22229731;22338105;22368277;22815489;22851705;23677468;2570030;3140783;3421908;6900901;7151327;7590866;7893437;7911492;8530058;8630395;8871668;9127010;9710744 5199 C9J7V5;E9PAQ1;P27918 ABBA01052388;AF005664;AF005665;AF005666;AF005668;AK122955;AK310695;AL009172;AMYH02039288;AY297813;BC015756;CH471164;DB146591;M83652;NG_009893;NM_001145252;NM_002621;X57748;X70872 AAA36489;AAB62886;AAB63279;AAB63280;AAC51626;AAH15756;AAP43692;ABM84386;ABM87309;BAG53818;CAA40914;CAA50220;EAW59317;EAW59318;EAW59319;EAW59320;NP_001138724;NP_002612;P27918 Hs.53155 1680573 RH93309 BFD;PFC;PFD OTTHUMP00000023223;OTTHUMP00000216155;complement factor P;properdin;properdin P factor, complement APPROVED protein-coding ENSG00000126759 HGNC:8864 02308 300383 REVIEWED 1350199 CFTRP1 cystic fibrosis transmembrane conductance regulator pseudogene 1 20 20 20 p11.1 25917112 25917494 - 25900036 25900418 - 25919400 25919782 - 140871 ABBA01004278;AL078587;AMYH02036870;NG_002787 C20orf189;dJ760C5.1 APPROVED pseudo HGNC:16182 INFERRED 1348590 CGA glycoprotein hormones, alpha polypeptide The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 6 6 6 q12-q21 88213978 88223577 - 87795216 87804865 - 87085498 87095147 - 1580863;2293635;2293633;2293636;2293634;2293637;6480464;6907045;8554872 11687975;12180238;16007123;2473429;6768680 10342833;10373373;10563789;10821673;11222739;11261589;11266609;1150658;1158880;11775891;11893904;11900895;1191677;12164786;12237895;12477932;12569177;12615827;12920232;12960071;12963710;14585810;14607569;14726442;15004409;15231748;15304512;15489334;15637148;15662415;16169070;16311298;16461985;16543672;1688430;16950818;17045735;17097221;17112680;17143726;17207965;172504;17261286;17609437;17690166;17761764;18022169;18063683;18068163;18079192;18206295;18240029;18313839;18676680;19054012;19131506;19136570;19170196;19196802;19344190;19383238;19574343;19598235;19625176;19667278;19692168;19730683;19846218;19880179;1991473;19929279;20352046;20379614;20400076;20455884;20575467;20600586;20634197;20660299;20718770;20734064;20826269;21114382;21149714;21159522;21623995;21763112;21838882;21981142;22061337;22128326;22278420;22354444;22386126;22391642;22446105;22811570;23153859;23267835;23345094;23371388;23380184;23423746;23525871;23684886;23717664;24291635;24466091;2449427;24661543;2481154;2536708;2611225;2708337;3839756;4368999;4745444;481597;4835135;5002675;5065401;6189397;6207569;6286817;6581542;6774759;7410374;7462224;7544284;7679977;7922031;8196184;8202136;8898911;890569;9578495 1081 P01215;Q6I9S8 AB019569;ABBA01040490;AI200485;AK311972;AL138827;AMYH02014053;BC010957;BC020782;BC055080;BG571584;BG619154;CH471051;CQ873162;CR457427;CS120867;EU081886;FJ624078;FJ624079;HI574172;J00152;NM_000735;NM_001252383;S70585;V00518 AAB30827;AAD13690;AAH10957;AAH20782;AAH55080;ABU96751;ACM91587;ACM91588;ADQ33203;BAG34911;CAA23777;CAG33708;CAH56879;CAJ15133;CBX47575;EAW48612;EAW48613;EAW48614;EAW48615;NP_000726;NP_001239312;P01215 Hs.119689 1664477;5122828 D6S1845;RH78136 CG-ALPHA;FSHA;GPHA1;GPHa;HCG;LHA;TSHA FSH-alpha;LSH-alpha;OTTHUMP00000016825;TSH-alpha;anterior pituitary glycoprotein hormones common subunit alpha;choriogonadotropin alpha chain;chorionic gonadotrophin subunit alpha;chorionic gonadotropin, alpha polypeptide;follicle-stimulating hormone alpha chain;follicle-stimulating hormone alpha subunit;follitropin alpha chain;glycoprotein hormones alpha chain;luteinizing hormone alpha chain;lutropin alpha chain;thyroid-stimulating hormone alpha chain;thyrotropin alpha chain APPROVED protein-coding ENSG00000135346 HGNC:1885 00342 118850 REVIEWED 1351942 CGB chorionic gonadotropin, beta polypeptide This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 46393333 46394800 - 49526126 49527632 - 49022869 49024375 - 1580863;6480464 10468638;10563789;10715549;11266609;11861891;12175153;12242028;12419040;12477932;12569177;12594819;1371113;1442929;15004409;15048184;1510839;15718290;16007123;16323172;16543672;16632463;16651852;1688430;16924466;17045394;17059865;17097221;17139196;17141398;17143726;17437322;17761764;18022169;18048458;1820200;18217981;18240029;18339208;18577995;18578862;18606016;18752498;18758818;18782867;18802946;19002615;19003798;19005764;19106261;19131508;19290844;19501580;19624411;19846218;20065111;20421278;20619452;20654692;20872871;20949592;21222045;21360554;21388678;21463216;21592960;21707946;21719003;21799854;21827674;21832049;22148978;22365285;22367671;2254302;22554618;22811468;23011731;23136239;23148678;23285091;23337393;23396945;23424616;23439616;23499152;23510392;23541408;23684886;24014048;2422163;24239648;2424697;24355054;24379071;2447154;2452822;24554412;2468994;24778026;2536708;3098775;4368999;6160572;6194155;6196363;6204923;6319099;6690982;6774259;7251865;7513655;7723844;7922031;8202136;9542977;9578495 1082 P01233 ABBA01032950;AC008687;AC245081;AK291552;BC022796;BC069526;BC106059;BX334905;CH471177;J00117;K03181;K03189;M13504;NM_000737;XM_005258423 AAA52005;AAA53288;AAA96690;AAH22796;AAH69526;AAI06060;ABM83058;ABM86252;BAF84241;EAW52434;NP_000728;P01233;XP_005258480 Hs.446683;Hs.743279 5022065;5110657;5121175;5493027 D19S1130;RH71426;STS-J00117;UniSTS:483811 CGB3;CGB5;CGB7;CGB8;hCGB CG-beta;choriogonadotropin subunit beta;chorionic gonadotrophin chain beta;chorionic gonadotropin beta 3 subunit;chorionic gonadotropin beta chain;chorionic gonadotropin beta subunit APPROVED protein-coding ENSG00000104827 HGNC:1886 00343 118860 REVIEWED 1349143 CGB1 chorionic gonadotropin, beta polypeptide 1 The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB1 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 155 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 46406035 46407400 - 49538826 49540191 - 49035569 49036934 - 6480464 11181995;11368883;12477932;1371113;17055150;23774837;2422163;2468994;24778026;6194155;6204923;6209613;6319099;6690982;8954017 114335 A6NKQ9;J3QT02;K7ELM3 ABBA01032948;AC008687;AC245081;BC107144;BC126460;CH471177;NM_033377;S80935;XM_005258478 A6NKQ9;AAI26461;AAI72367;EAW52436;NP_203695;XP_005258535 Hs.659014 5022065;5110657;5121175;5492733;5493389;5493633;5493945 D19S1130;RH71426;STS-J00117;UniSTS:480488;UniSTS:482158;UniSTS:485942;UniSTS:489972 OTTHUMP00000196561;choriogonadotropin subunit beta variant 1 APPROVED protein-coding ENSG00000267631 HGNC:16721 12307 608823 REVIEWED 1352505 CGB2 chorionic gonadotropin, beta polypeptide 2 The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB2 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 163 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 46402337 46403702 + 49535130 49536495 + 49031873 49033238 + 6480464 11181995;12477932;1371113;17055150;23774837;2422163;24778026;6194155;6204923;6319099;6690982;8954017 114336 H9KV56;M0R0E6;Q6NT52 ABBA01032949;AC008687;AC245081;BC069367;BC107143;CH471177;K03185;NM_033378;XM_005258479;XM_005258480 AAH69367;EAW52435;NP_203696;Q6NT52;XP_005258536;XP_005258537 Hs.567650 5022065;5110657;5121175;5492733;5493633;5493945 D19S1130;RH71426;STS-J00117;UniSTS:480488;UniSTS:482158;UniSTS:489972 OTTHUMP00000196560;choriogonadotropin subunit beta variant 2;product of CGB2 APPROVED protein-coding ENSG00000104818 HGNC:16722 12308 608824 REVIEWED 619566 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] 7 7 7 q31.2 111928196 112116895 + 117120017 117308719 + 117470772 117668665 + 1599599;734772;1580863;1599596;1599598;2307071;2314614;2317156;2317157;4140482;4140442;4140430;4140422;4140475;4140453;4140473;4140481;4140450;4140431;4140457;4140464;4140465;4140389;4140448;4139905;4139907;4140445;4140484;4140392;4140395;4140428;4140433;4140439;4140440;4140441;4140390;4140401;4140468;4139910;4140387;4140394;4140393;4140397;4140446;4140447;4140436;4140438;4140429;4140435;4140477;6480464;6907045;7240710;8554872;8699517 10767489;11243954;11504703;11732487;11773581;11823443;12123489;1283149;1284535;1370365;1379413;1380723;1380943;1381442;14975182;15463907;15605366;15781764;15905414;16227367;16678503;16804061;17072959;17099022;17902144;18450781;18652532;18703788;18988797;19202204;19620404;19843100;19858235;19880712;19952026;20015999;20298391;20622026;20722470;2344617;7521937;7539891;7543317;7560099;8535440;9254853;9272157;9429141;9439669 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N63046;REN63047;REN63048;REN63049;REN63050;REN63051;REN63052;REN63053;REN63054;REN63055;REN63056;REN63057;REN63058;REN63059;REN63060;REN63061;REN63062;REN63063;REN63064;REN63065;REN63066;REN63067;REN63068;REN63069;REN63070;REN63071;REN63072;REN63073;REN63074;REN63075;REN63076;REN63077;REN63078;REN63079;REN63080;REN63081;REN63082;REN63083;REN63084;REN63085;REN63086;REN63087;REN63088;REN63089;REN63090;REN63091;REN63092;REN63093;REN63094;REN63095;REN63096;REN63097;REN63098;REN63099;REN63100;REN63101;REN63102;REN63103;REN63104;REN63105;REN63106;REN63107;REN63108;REN63109;REN63110;REN63111;REN63112;REN63113;REN63114;REN63115;REN63116;REN63117;REN63118;REN63119;REN63120;REN63121;REN63122;REN63123;REN63124;REN63125;REN63126;REN63127;REN63128;REN63129;REN63130;REN63131;REN63132;REN63133;REN63134;REN63135;REN63136;REN63137;REN63138;REN63139;REN63140;REN63141;REN63142;REN63143;REN63144;REN63145;REN63146;REN63147;REN63148;REN63149;REN63150;REN63151;REN63152;REN63153;REN63154;REN63155;REN63156;REN63157;REN63158;REN63159;REN63160;REN63161;REN63162;REN63163;REN63164;REN63165;REN63166;REN63167;REN63168;REN63169;REN63170;REN63171;REN63172;REN63173;REN63174;REN63175;REN63176;REN63177;REN63178;REN63179;REN63180;REN63181;REN63182;REN63183;REN63184;REN63185;REN63186;REN63187;REN63188;REN63189;REN63190;REN63191;REN63192;REN63193;REN63194;REN63195;REN63196;REN63197;REN63198;REN63199;REN63200;REN63201;REN63202;REN63203;REN63204;REN63205;REN63206;REN63207;REN63208;REN63209;REN63210;REN63211;REN63212;REN63213;REN63214;REN63215;REN63216;REN63217;REN63218;REN63219;REN63220;REN63221;REN63222;REN63223;REN63224;REN63225;REN63226;REN63227;REN63228;REN63229;REN63230;REN63231;REN63232;REN63233;REN63234;REN63235;REN63236;REN63237;REN63238;REN63239;REN63240;REN63241;REN63242;REN63243;REN63244;REN63245;REN63246;REN63247;REN63248;REN63249;REN63250;REN63251;REN63252;REN63253;REN63254;REN63255;REN63256;REN63257;REN63258;REN63259;REN63260;REN63261;REN63262;REN63263;REN63264;REN63265;REN63266;REN63267;REN63268;REN63269;REN63270;REN63271;REN63272;REN63273;REN63274;REN63275;REN63276;REN63277;REN63278;REN63279;REN63280;REN63281;REN63282;REN63283;REN63284;REN63285;REN63286;REN63287;REN63288;REN63289;REN63290;REN63291;REN63292;REN63293;REN63294;REN63295;REN63296;REN63297;REN63298;REN63299;REN63300;REN63301;REN63302;REN63303;REN63304;REN63305;REN63306;REN63307;REN63308;REN63309;REN63310;REN63311;REN63312;REN63313;REN63314;REN63315;REN63316;REN63317;REN63318;REN63319;REN63320;REN63321;REN63322;REN63323;REN63324;REN63325;REN63326;REN63327;REN63328;REN63329;REN63330;REN63331;REN63332;REN63333;REN63334;REN63335;REN63336;REN63337;REN63338;REN63339;REN63340;REN63341;REN63342;REN63343;REN63344;REN63345;REN63346;REN63347;REN63348;REN63349;REN63350;REN63351;REN63352;REN63353;REN63354;REN63355;REN63356;REN63357;REN63358;REN63359;REN63360;REN63361;REN63362;REN63363;REN63364;REN63365;REN63366;REN63367;REN63368;REN63369;REN63370;REN63371;REN63372;REN63373;REN63374;REN63375;REN63376;REN63377;REN63378;REN63379;REN63380;REN63381;REN63382;REN63383;REN63384;REN63385;REN63386;REN63387;REN63388;REN63389;REN63390;REN63391;REN63392;REN63393;REN63394;REN63395;REN63396;REN63397;REN63398;REN63399;REN63400;REN63401;REN63402;REN63403;REN63404;REN63405;REN63406;RH104339;RH78950;SHGC-106402;SHGC-35613;SHGC-5982;SHGC-79495;SHGC-79680;STS-M28668;STS-M96936;stSG598673;stSG598674;stSG598675;stSG598676;stSG598677;stSG598679;stSG598680;stSG598681;stSG598682;stSG598683;stSG598684;stSG598685;stSG598686;stSG598687;stSG598688;stSG598689;stSG598690;stSG598691;stSG598692;stSG598693;stSG598694;stSG598695;stSG598696;stSG598697;stSG598698;stSG598699;stSG598700;stSG598701;stSG598702;stSG598703;stSG598704;stSG598705;stSG598706;stSG598707;stSG598708;stSG598709;stSG598710;stSG598711;stSG598712;stSG598713;stSG598714;stSG598715;stSG598716;stSG598717;stSG598718;stSG598719;stSG598720;stSG598721;stSG598722;stSG598723;stSG598724;stSG598725;stSG598726;stSG598727;stSG598728;stSG598729;stSG598730;stSG598731;stSG598732;stSG598734;stSG598735;stSG598736;stSG598737;stSG598738;stSG598739;stSG598740;stSG598741;stSG598742;stSG598743;stSG598744;stSG598745;stSG598746;stSG598747;stSG598748;stSG598750;stSG598751;stSG598752;stSG598753;stSG598754;stSG598755;stSG598756;stSG598757;stSG598758;stSG598759;stSG598760;stSG598761;stSG598762;stSG598763;stSG598765;stSG598766;stSG598767;stSG598768;stSG598769;stSG598770;stSG598771;stSG598772;stSG598773;stSG598774;stSG598775;stSG598776;stSG598777;stSG598778;stSG598779;stSG598780;stSG598781;stSG598782;stSG598783;stSG598784;stSG598785;stSG598786;stSG598787;stSG598788;stSG598789;stSG598790;stSG598795;stSG598796;stSG598797;stSG598798;stSG598799;stSG598800;stSG598801;stSG598802;stSG598803;stSG598804;stSG598805;stSG598808;stSG598809;stSG598810;stSG598811;stSG598812;stSG598813;stSG598814;stSG598815;stSG598816;stSG598817;stSG598818 ABC35;ABCC7;CF;CFTR/MRP;MRP7;TNR-CFTR;dJ760C5.1 ATP-binding cassette sub-family C member 7;ATP-binding cassette transporter sub-family C member 7;OTTHUMP00000024694;OTTHUMP00000196524;cAMP-dependent chloride channel;channel conductance-controlling ATPase;cystic fibrosis transmembrane conductance regulator;cystic fibrosis transmembrane conductance regulator, atp-binding cassette (sub-family c, member 7) APPROVED protein-coding ENSG00000001626 HGNC:1884 03883 167800;211400;219700;277180;602421 REVIEWED 1347768 CGB5 chorionic gonadotropin, beta polypeptide 5 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 5 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 46414311 46415777 + 49547102 49548568 + 49043845 49045311 + 1580863;6480464 10373373;11893904;12477932;12511603;12914533;1371113;14715707;15217983;15253136;15285305;15299093;15309632;172504;17510243;19002615;19047151;19173346;20716560;20734064;20962020;21167905;22769733;23510993;23812658;2422163;2424697;2452822;2468994;2536708;2611225;2708337;6194155;6204923;6209613;6319099;6690982;7922031;8202136;9012484;9578495 93659 P01233 ABBA01032948;AC008687;AC245081;BC006290;BC051378;BC103970;BC103971;BC106723;BC106724;BT006890;CH471177;NM_033043;X00265;XM_005259423 AAH06290;AAH51378;AAI03971;AAI03972;AAI06724;AAI06725;AAP35536;CAA25068;EAW52437;NP_149032;XP_005259480 Hs.172944 5022065;5110657;5121175;5493027 D19S1130;RH71426;STS-J00117;UniSTS:483811 HCG;MGC119822 chorionic gonadotropin beta 5 subunit APPROVED protein-coding ENSG00000189052 HGNC:16452 12309 608825 REVIEWED 1343156 CGB8 chorionic gonadotropin, beta polypeptide 8 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 8 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 46418103 46419576 - 49550895 49552368 - 49047638 49049111 - 6480464 12477932;1371113;2422163;2424697;2452822;2468994;6194155;6204923;6209613;6319099;6690982;9012484 94115 P01233 ABBA01032948;AC008687;AC245081;BC030994;BC103969;BC128603;BQ011275;BX118262;BX380841;CH471177;NM_033183 AAH30994;AAI03970;AAI28604;EAW52438;NP_149439 Hs.659014;Hs.743279 5022065;5110657;5121175 D19S1130;RH71426;STS-J00117 chorionic gonadotropin beta 8 subunit APPROVED protein-coding ENSG00000213030 HGNC:16453 12311 608827 REVIEWED 1344268 CGF1 cognitive function 1, social ASSOCIATED WITH COGNITIVE FUNCTION 1, SOCIAL (inferred) 7240710 9192895 1083 2124254;2136776 DXS538;DXS7 HGNC:1887 300082 1351098 CGB7 chorionic gonadotropin, beta polypeptide 7 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 7 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 46424739 46426205 - 49557531 49561603 - 49054274 49058346 - 1580863;6480464;8554872 10468638;1150658;11861891;1371113;14702039;15489334;1688430;1820200;22032922;2422163;2424697;2452822;2468994;4795659;6194155;6204923;6209613;6319099;6690982;6774259;7240231;7462224;8202136;9012484 94027 P01233 ABBA01032947;AC008687;AC245081;AF397576;AF397577;AF397578;AF397579;AF397580;AK092722;AK125108;AK310581;CH471177;K00092;K03182;K03183;M13503;M13505;NM_033142;XM_005259425;XM_005259426;XM_006723505 AAA52008;AAA52009;AAA53287;AAI60150;AAL69704;AAL69705;AAL69706;AAL69707;AAL69708;EAW52439;NP_149133;XP_005259482;XP_005259483;XP_006723568 Hs.681647;Hs.745468 5022065;5110657;5121175;5493027 D19S1130;RH71426;STS-J00117;UniSTS:483811 CG-beta-a;CGB6;FLJ35403;FLJ43118 chorionic gonadotropin beta 7 subunit APPROVED protein-coding ENSG00000196337 HGNC:16451 12310 608826 REVIEWED 1317722 CGGBP1 CGG triplet repeat binding protein 1 CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental retardation syndrome (MIM 300624), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM, Mar 2008] 3 3 3 p12-p11.1 88855191 88862231 - 88101100 88199016 - 88051950 88149866 - 6480464 10692448;11076863;11230166;11256614;12477932;14519687;14667814;15489334;15489336;16169070;16381901;18029348;19322201;19728537;20141036;21139048;21733196;24196442;24491049;24816145;8069307;8268919;8626781;9201980 8545 C9JUJ0;Q9UFW8 ABBA01004632;ABBA01004633;ABBA01004634;AC119733;AC128650;AF094481;AJ000258;AL117392;AL357195;AMYH02007220;BC005222;BC042194;BC052980;BE501563;BU537042;CH471110;CR456854;NM_001008390;NM_001195308;NM_003663 AAD04161;AAH52980;CAA03974;CAB55894;CAG33135;CAL38583;EAW68863;EAW68864;NP_001008391;NP_001182237;NP_003654;Q9UFW8 Hs.444818 1697384;1735340;2163665 D3S2962E;G35321;RH102190 CGGBP;p20-CGGBP 20 kDa CGG-binding protein;CGG triplet repeat-binding protein 1;CGG-binding protein 1;OTTHUMP00000213853;OTTHUMP00000213877;OTTHUMP00000213878;OTTHUMP00000213996;OTTHUMP00000213997;p20-CGG binding protein;p20-CGGBP DNA-binding protein APPROVED protein-coding ENSG00000163320 HGNC:1888 04529 603363 VALIDATED 1348912 CGN1 conglutinin 1 1099 HGNC:1904 1323740 CGN cingulin ENCODES a protein that exhibits actin binding (ortholog); INVOLVED IN metabolic process (inferred); transforming growth factor beta receptor signaling pathway (inferred); FOUND IN tight junction; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP 1 1 1 q21 124599109 124626467 + 151483331 151511168 + 151510879 151538692 + 1580863;6480464 10613913;10718198;10877843;11042084;12023291;12477932;12529927;12665801;14702039;15146197;15324660;15342556;15778465;15866167;16083285;16710414;17353931;17567994;17979178;20086175;21139048;21890473;22245583;22586326;22889411;24255178;24816145 57530 A2A3M4;A6PVU7;H0Y4A8;Q9P2M7 AB037740;ABBA01049398;ABBA01049399;AF263462;AK290007;AL365436;AMYH02001885;AMYH02001886;BC146657;BC150604;BC152445;BP331021;BX647343;CH471121;CN359389;DQ656046;NM_020770;XM_005245365;XM_006711470 AAF74498;AAI46658;AAI50605;AAI52446;BAA92557;BAF82696;EAW53434;EAW53435;NP_065821;Q9P2M7;XP_005245422;XP_006711533 Hs.591464 1684020;1809278;1809594;1809726;1811044;1811108;1811838;1811974;1816422;1816668;1816868;1817444;1818532;1819478;1819946;1820878;1823468;1825398;1827838;1828350;1828496;1829966;1830100;1832278;1835398;1835758;1837320;1838712;1841292;1842230;1927202;1927204;1927206;1927208;1927210;1927212;1927214;1927216;1927218;1927220;1927222;1927224;1927226;1927228;1927230;1927232;1927234;1927236;1927238;1927240;1927242;1927244;1927246;1927248;1927250;1927252;1927254;1927256;1927258;1927260;1927262;1927264;1927266;1927268;1927270;1927272;1927274;1927276;1927278;1927280;1927282;1927284;1927286;1927288;1927290;1927292;1927294;1927296;1927298;1927300;1927302;1927304;1927306;1927308;1927310;1927312;1927314;1927316;1927318;1927320;1927322;1927324;1927326;1927328;1927330;1927332;1927334;1927336;1927338;1927340;1927342;1927344;1927346;1927348;1927350;1927352;1927354;1927356;1927358;1927360;1927362;1927364;1927366;1927368;1927370;1927372;1927374;1927376;1927378;1927380;1927382;1927384;1927386;1927388;1927390;1927392;1927394;1927396;1927398;1927400;1927402;1927404;1927406;1927408;1927410;1927412;1927414;1927416;1927418;1927420;1927422;1927424;1927426;1927428;1927430;1927432;1927434;1927436;1927438;1927440;2123643;2207836;2207838;2207840;2207842;2207844;2207846;2207848;2207850;2207852;2207854;2207856;2207858;2207860;2207862;2207864;2207866;2207868;2207870;2207872;2207874 ECD05629;ECD05789;ECD05855;ECD06520;ECD06552;ECD06923;ECD06992;ECD09253;ECD09377;ECD09480;ECD09772;ECD10328;ECD10806;ECD11044;ECD11515;ECD12825;ECD13806;ECD15042;ECD15300;ECD15375;ECD16116;ECD16183;ECD17277;ECD18854;ECD19040;ECD19827;ECD20533;ECD21842;ECD22318;REN34427;REN34428;REN34429;REN34430;REN34431;REN34432;REN34433;REN34434;REN34435;REN34436;REN34437;REN34438;REN34439;REN34440;REN34441;REN34442;REN34443;REN34444;REN34445;REN34446;REN34447;REN34448;REN34449;REN34450;REN34451;REN34452;REN34453;REN34454;REN34455;REN34456;REN34457;REN34458;REN34459;REN34460;REN34461;REN34462;REN34463;REN34464;REN34465;REN34466;REN34467;REN34468;REN34469;REN34470;REN34471;REN34472;REN34473;REN34474;REN34475;REN34476;REN34477;REN34478;REN34479;REN34480;REN34481;REN34482;REN34483;REN34484;REN34485;REN34486;REN34487;REN34488;REN34489;REN34490;REN34491;REN34492;REN34493;REN34494;REN34495;REN34496;REN34497;REN34498;REN34499;REN34500;REN34501;REN34502;REN34503;REN34504;REN34505;REN34506;REN34507;REN34508;REN34509;REN34510;REN34511;REN34512;REN34513;REN34514;REN34515;REN34516;REN34517;REN34518;REN34519;REN34520;REN34521;REN34522;REN34523;REN34524;REN34525;REN34526;REN34527;REN34528;REN34529;REN34530;REN34531;REN34532;REN34533;REN34534;REN34535;REN34536;REN34537;REN34538;REN34539;REN34540;REN34541;REN34542;REN34543;REN34544;REN34545;REN34546;RH70512;RH79758;stSG627250;stSG627251;stSG627252;stSG627253;stSG627254;stSG627255;stSG627256;stSG627257;stSG627259;stSG627260;stSG627261;stSG627262;stSG627263;stSG627264;stSG627265;stSG627266;stSG627267;stSG627268;stSG627269;stSG627270 DKFZp779N1112;FLJ39281;KIAA1319 OTTHUMP00000014466 protein-coding ENSG00000143375 HGNC:17429 10827 609473 VALIDATED 1353387 CGNL1 cingulin-like 1 This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011] 15 15 15 q21.3 34620494 34733233 + 57668703 57842925 + 57376505 57550727 + 6480464;8554872 11214970;12477932;12736278;14702039;15292197;16344560;17584767;18653465;20936779;21305692;21454477;21693764;21890473;24816145 84952 Q0VF96;Q6P5Q2 AA661765;AB051536;ABBA01038991;AC016525;AC025271;AK027025;AK027863;AK056673;AK307410;AL110171;AMYH02030520;AMYH02030521;AY274808;AY610514;BC021799;BC030995;BC062770;BC093827;BC112049;BC118918;BC118919;BQ023767;CH471082;DA272287;DC415862;KC877549;KF456056;KF456060;NG_030584;NM_001252335;NM_032866;XM_005254726;XM_005254727 AAH30995;AAH62770;AAH93827;AAI12050;AAI18919;AAP42073;AAT37906;BAB21840;BAB55415;BAB71249;EAW77521;NP_001239264;NP_116255;Q0VF96;XP_005254783;XP_005254784 Hs.148989;Hs.734541 1648358;1660206;1665138;1704302;2156514;2173646;5020944;5020948;5022322 A007H42;AF044685;D11S2560;D15S1183;D15S738;G35510;RH70361;SHGC-83290;WI-11604 FLJ14957;KIAA1749;MGC138254 JACOP;OTTHUMP00000163190;cingulin-like protein 1;junction-associated coiled-coil protein;paracingulin APPROVED protein-coding ENSG00000128849 HGNC:25931 09708 607856 REVIEWED 1353373 CGREF1 cell growth regulator with EF-hand domain 1 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN cell adhesion (inferred); cell cycle arrest (inferred); negative regulation of cell growth (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH (S)-nicotine; all-trans-retinoic acid; benzo[a]pyrene 2 2 2 p23.3 27168567 27188302 - 27322159 27341995 - 27099353 27119127 - 632480;1580863;6480464 8968090 12477932;16341674;16344560;18854154;19913121;20628086;24483146;8889548 10669 F8WE80;Q99674 ABBA01045193;ABBA01045194;AC013403;AI870942;AK290128;AK302185;AK309147;AL536349;AMYH02003471;AMYH02003472;BC034764;BM716977;BM849276;BX419588;CH471053;DB056279;NM_001166239;NM_001166240;NM_001166241;NM_001301324;NM_006569;U66468 AAC50896;AAH34764;AAX93168;ABM81751;ABM84905;BAF82817;BAG63550;EAX00635;EAX00636;EAX00637;EAX00638;EAX00639;NP_001159711;NP_001159712;NP_001159713;NP_001288253;NP_006560;Q99674 Hs.159525 1651754;1656643;2129573;2132891;2132893;2142126;2142354;2152542;5121687 A001Z30;D2S2614;G19822;RH12103;RH70696;RH70916;SHGC-12022;STS-AA027947;STS-Z41432 CGR11 OTTHUMP00000200952;OTTHUMP00000200954;OTTHUMP00000200955;OTTHUMP00000200956;OTTHUMP00000200957;cell growth regulator with EF hand domain 1;cell growth regulator with EF hand domain protein 1;cell growth regulatory gene 11 protein;hydrophobestin protein-coding ENSG00000138028 HGNC:16962 09365 606137 VALIDATED 733810 CGRRF1 cell growth regulator with ring finger domain 1 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN cell cycle arrest (inferred); negative regulation of cell proliferation (inferred); FOUND IN intracellular membrane-bounded organelle; nucleus; INTERACTS WITH Aroclor 1254; atrazine; cobalt dichloride 14 14 14 q22.2 35026117 35054859 + 54976587 55005334 + 54509869 54538616 + 632480;6480464 8968090 12070015;12477932;15489334;17207965;18029348;19690564;20677014;21906983;22493164;23259602;24680596 10668 G3V229;G3V2K9;G3V412;M0QZQ7;Q99675 ABBA01018195;ABBA01018196;AK289478;AK315318;AL359792;AMYH02029219;AW664053;BC015063;BG701924;CH471061;NM_006568;U66469 AAC50897;AAH15063;ACE87842;ACT64572;ADQ31704;BAF82167;BAG37721;EAW80640;EAW80641;EAW80642;NP_006559;Q99675 Hs.59106 1676988;1693490;2142908 RH70697;RH98940;SHGC-58227 CGR19;RNF197 OTTHUMP00000179003;RING finger protein 197;cell growth regulator with RING finger domain protein 1;cell growth regulatory gene 19 protein protein-coding HGNC:15528 09366 606138 VALIDATED 1321560 CH25H cholesterol 25-hydroxylase This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008] 10 10 10 q23 84712523 84713900 - 90965694 90967071 - 89205937 89207314 - 1580863;6480464;6907045 12477932;15164054;15465627;15489334;16157450;16385451;16909003;17373700;18830724;20413850;20445134;20534741;20535486;20574532;20699362;21041692;9852097 9023 O95992 ABBA01021949;AF059212;AF059214;AK314865;AL513533;AMYH02023510;BC017843;BC072430;CH471066;FB336678;HH768017;NM_003956 AAC97481;AAC97483;AAH17843;AAH72430;ABM82952;ABM86144;BAG37380;CAR81282;CBX84760;EAW50146;NP_003947;O95992 Hs.47357 2114879 RH45896 C25H;h25OH OTTHUMP00000020057;cholesterol 25-monooxygenase APPROVED protein-coding ENSG00000138135 HGNC:1907 05183 604551 REVIEWED 1606619 CHAC2 ChaC, cation transport regulator homolog 2 (E. coli) INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; benzo[a]pyrene 2 2 2 p16 53835783 53843141 + 53994929 54002320 + 53767792 53775150 + 6480464 12477932;17207965;21139048;21832049;22939629;23070364;24250222;24816145 494143 Q8WUX2 ABBA01075237;AC007883;AMYH02003835;BC017941;BC019239;BC025376;BC053896;CH471053;NM_001008708 AAH17941;AAH19239;AAH25376;AAH53896;AAY24351;ADQ32202;EAX00172;EAX00173;NP_001008708;Q8WUX2 Hs.585944 1715515 RH120980 ChaC, cation transport regulator-like 2;OTTHUMP00000200605;cation transport regulator-like protein 2;gamma-GCT acting on glutathione homolog 2 protein-coding ENSG00000143942 HGNC:32363 17418 PROVISIONAL 1604291 CHAC1 ChaC, cation transport regulator homolog 1 (E. coli) ENCODES a protein that exhibits Notch binding (ortholog); INVOLVED IN intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; negative regulation of Notch signaling pathway; negative regulation of protein processing; FOUND IN cytosol; trans-Golgi network (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; amiodarone; arsenous acid 15 15 15 q15.1 18013509 18016592 + 41245636 41248717 + 40953438 40956519 + 6480464 12477932;15489334;16189514;16341674;19109178;21890473;21906983;22108517;22589738;23000965;23070364;23342279;8889548 79094 H0YK90;Q9BUX1 ABBA01038427;AC020661;AMYH02030256;AY702027;BC001683;BC001847;BC019625;BM665296;BM784841;BQ900544;CB529304;CH471125;NM_001142776;NM_024111 AAH01683;AAH01847;AAH19625;AAW23972;EAW92467;NP_001136248;NP_077016;Q9BUX1 Hs.155569 MGC4504;botch ChaC, cation transport regulator-like 1;OTTHUMP00000160711;blocks Notch protein;cation transport regulator-like protein 1;gamma-GCT acting on glutathione homolog 1 protein-coding ENSG00000128965 HGNC:28680 14634 614587 VALIDATED 2292054 CHADL chondroadherin-like FOUND IN extracellular matrix (ortholog); INTERACTS WITH aflatoxin B1; ozone (ortholog); paracetamol (ortholog) 22 22 22 q13.2 25431894 25443315 - 41605861 41636935 - 41209933 41240931 - 6480464 12477932;18029348;18854154 150356 B0QYT2;H0Y4I5;Q6NUI6 ABBA01055626;AL035681;AMYH02038431;BC012882;BC019839;BC040188;BC048421;BC068590;CH471095;NM_138481;XM_005261370;XM_005261371 AAH12882;AAH19839;AAH40188;AAH48421;AAH68590;EAW60419;NP_612490;Q6NUI6;XP_005261427;XP_005261428 Hs.344488 1694778;1847627;7186361 D22S1539;G43605 SLRR4B OTTHUMP00000198751;OTTHUMP00000198752;chondroadherin-like protein protein-coding ENSG00000100399 HGNC:25165 VALIDATED 734435 CHAD chondroadherin Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. [provided by RefSeq, Jul 2008] 17 17 17 q21.33 45003146 45007520 - 48541853 48547242 - 50464492 50468866 - 1580863;6480464;6907045;8554872 11445564;12477932;15489334;1939097;19525844;21127050;23172228;9281592;9344663 1101 H0YA03;O15335 ABBA01041240;AC021491;AF371328;AK292177;AMYH02033592;AMYH02033593;BC036360;BC073974;BQ181527;CH471109;NM_001267;U96767;U96768;U96769 AAC13410;AAH36360;AAH73974;AAK51556;ADZ15372;BAF84866;EAW94613;EAW94614;NP_001258;O15335 Hs.97220 2146995;2218376 CHAD_4562;G13356 SLRR4A OTTHUMP00000221355;OTTHUMP00000221419;cartilage leucine-rich protein;chondroadherin proteoglycan APPROVED protein-coding ENSG00000136457 HGNC:1909 03711 602178 REVIEWED 1316940 CHAF1B chromatin assembly factor 1, subunit B (p60) Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008] 21 21 21 q22.13 22956076 22987501 + 37757689 37789125 + 36385391 36416827 + 1580863;6480464;9587477;9587461;9587742;9587467;9068945;9587476;8554872 19309489;20178651;21109952;22882088;23288364;24836587 10830953;10893180;10938080;11897662;12477932;12697822;12771185;14718166;15024074;15068244;15302935;15306854;15489334;15664198;15882967;16622419;16780588;16980972;17081972;17081983;17353931;17452450;18029348;19394292;19410544;19498464;19759913;20504901;20562864;20953179;21083601;21139048;21282530;21724829;21832049;21890473;21906983;21963094;22190034;22195966;22939629;23000965;23667531;23932459;24039914;24816145;7600578;8660983;8792829;8858152;8885239;9614144;9813080 8208 Q13112 ABBA01057395;AK313152;AL711314;AMYH02037781;AMYH02037782;AP000694;AP001725;BC001143;BC021218;CH471079;NM_005441;U20980;X98262 AAA76737;AAH21218;ADZ15742;BAA89426;BAA95549;BAG35970;CAA66915;EAX09741;NP_005432;Q13112 Hs.75238 1653250;1666925;1769251;2152643;2175792 D21S1939;G34657;SHGC-51966;SHGC-9552;STS-U20980 CAF-1;CAF-IP60;CAF1;CAF1A;CAF1P60;MPHOSPH7;MPP7 CAF-1 subunit B;CAF-I 60 kDa subunit;CAF-I p60;M-phase phosphoprotein 7;OTTHUMP00000109011;chromatin assembly factor 1 subunit B;chromatin assembly factor I p60 subunit;human chromatin assembly factor-I p60 subunit APPROVED protein-coding HGNC:1911 03147 601245 REVIEWED 1353205 CHAF1A chromatin assembly factor 1, subunit A (p150) Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008] 19 19 19 p13.3 4340887 4381635 + 4402660 4443394 + 4402663 4443397 + 1580863;6480464;9587459;9587458;9587457;9068945;8554872 18048407;23288364;24335960;24845563 10052459;10549285;10648606;10893180;10938122;11250073;11296234;11897662;12477932;12697822;12771185;14718166;15067324;15143166;15231747;15302935;15306854;15327775;15456888;15489334;15664198;15805117;15882967;16341674;16622419;16826239;16964243;17065558;17066076;17081972;17081983;17099699;17173071;17353931;17452450;17474147;17785442;18270339;18559551;18854154;19059499;19324875;19471022;19498464;19822659;19845771;19919826;20211142;20504901;20562864;20800603;20936779;21209461;21282622;21445097;21570500;21693764;21724829;21888893;22190034;22195966;22228774;22232658;22939629;23075851;24816145;7600578;8858152;9614144 10036 K7EJF1;K7EME9;K7ENC7;K7EPA1;Q13111 AA576757;ABBA01056073;ABBA01056074;ABBA01056075;AC011498;AF190465;AMYH02035285;AMYH02035286;AMYH02035287;BC005813;BC011560;BC041606;BC052620;BC067093;BE796132;BG775588;BM826511;BQ889365;CH471139;H98924;KF459577;NM_005483;U20979 AAA76736;AAF04291;AAH52620;AAH67093;EAW69224;EAW69225;EAW69226;NP_005474;Q13111 Hs.79018 1773703;2109131;2128706;2164396 CHAF1A_9030;RH17788;RH70581;SHGC-31596 CAF-1;CAF-I p150;CAF1;CAF1B;CAF1P150;MGC71229;P150;hp150 CAF-1 subunit A;CAF-I 150 kDa subunit;chromatin assembly factor 1 subunit A;chromatin assembly factor I (150 kDa);chromatin assembly factor I p150 subunit APPROVED protein-coding ENSG00000167670 HGNC:1910 03148 601246 VALIDATED 1312173 CHAT choline O-acetyltransferase This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010] 10 10 10 q11.2 44403227 44459207 + 50817141 50873150 + 49609095 49665104 + 1600851;1600831;2301195;5686805;6480464;6907045;7240710;5686690;8549504;8554872;8699517 11172068;126256;16834974;16987871;17328924;23677775 10369388;10594838;10692442;10861222;11595752;12393272;12401548;12477932;12486117;12609506;12628465;12637523;12759818;12770689;1337937;1339386;1388731;1400357;14514417;15276243;15381704;15690550;15913843;16223550;16385451;16424819;16468020;16480703;17144655;17373692;17378730;17503475;17503482;1784419;18165968;18322398;18379437;1840566;18559515;18562794;18603262;18780301;19086053;19156168;19711100;19776575;19913121;2004764;20100532;20147892;20227257;20301347;20379614;20383528;20468060;20560540;20602615;20628086;20877624;21163949;21382474;21507424;21602657;21691765;21786365;21883924;21948486;22449376;22483691;22683430;23242284;23731954;24076142;3086876;3183663;3480542;7616604;7682855;8057782;8071310;8479291;8515278;9073174 1103 D3DX95;P28329;Q6LEN5;Q6LEN6;R4GN13 ABBA01041070;AC073366;AF305906;AF305907;AF305908;AF305909;AF450452;AMYH02022985;BC130615;BC130617;CH471187;D82339;D82340;D82341;D82342;L33837;M89917;M96015;NG_011797;NM_001142929;NM_001142933;NM_001142934;NM_020549;NM_020984;NM_020985;NM_020986;S45018;S56138;X56585;X56879;X65023 AAA14245;AAB23557;AAC37590;AAI30616;AAI30618;AAK08950;AAK08951;AAK08952;AAK08953;AAK08954;AAK08955;AAL48258;ADR83068;BAA18943;BAA18944;BAA18945;BAA18946;CAA39923;CAA40201;CAA46157;EAW93086;EAW93087;EAW93088;EAW93089;EAW93090;EAW93091;EAW93092;NP_001136401;NP_001136405;NP_001136406;NP_065574;NP_066264;NP_066265;NP_066266;P28329 Hs.302002 2137931;5494175 D10S1607;fc03d10.x1 CMS1A;CMS1A2 CHOACTASE;OTTHUMP00000019583;OTTHUMP00000019584;acetyl CoA:choline O-acetyltransferase;choline acetylase APPROVED protein-coding ENSG00000070748 HGNC:1912 07510 118490;254210 REVIEWED 1322656 CHAMP1 chromosome alignment maintaining phosphoprotein 1 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation; protein localization to kinetochore; protein localization to microtubule; ASSOCIATED WITH Melanoma (inferred); FOUND IN condensed chromosome; condensed chromosome kinetochore; nucleus; INTERACTS WITH atrazine; cobalt dichloride; copper(2+) sulfate 13 13 13 q34 95752593 95765430 + 115079965 115092803 + 114314490 114327328 + 6480464;8554872 11347906;12477932;14702039;15057823;15146197;15302935;15489334;16055720;16344560;16964243;17081983;18029348;19394292;19471022;20360068;20562864;21063390;21139048;21252943;21282530;21890473;22939629;22990118;23000965;24163370;24816145;8889548 283489 Q96JM3;S4R3K0 AB058705;ABBA01006264;AK074894;AK096346;AL160396;AL845154;AMYH02028757;BC004820;BC019576;BC065237;BM663717;CH471085;CN365659;DA289328;DB229502;NM_001164144;NM_001164145;NM_032436;XM_005266197 AAH04820;AAH65237;ABZ92044;BAB47431;BAC11273;BAG53268;EAX09253;EAX09254;NP_001157616;NP_001157617;NP_115812;Q96JM3;XP_005266254 Hs.7542 1754439;2162161;2171893 A006M48;SHGC-132547;SHGC-35748 C13orf8;CAMP;CHAMP;FLJ90413;KIAA1802;ZNF828 OTTHUMP00000018793;chromosome 13 open reading frame 8;chromosome alignment-maintaining phosphoprotein;chromosome alignment-maintaining phosphoprotein 1;zinc finger protein 828 APPROVED protein-coding ENSG00000198824 HGNC:20311 10707 VALIDATED 1316148 CHCHD1 coiled-coil-helix-coiled-coil-helix domain containing 1 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN cytoplasm; mitochondrion; nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; cyclosporin A 10 10 10 q22.2 68824977 68826575 + 75541808 75543406 + 73782050 73783648 + 6480464 12477932;15177562;15489334;16341674;18029348;20186120;20877624;21890473;22190034;23443559;24137763 118487 A6NJX6;Q96BP2 ABBA01020308;AC022400;AK098720;AMYH02023339;BC015387;BC020852;BM787401;CH471083;NM_203298 AAH15387;AAH20852;ACE87840;ACT64570;EAW54520;NP_976043;Q96BP2 Hs.181174 1773687;2172061;5124221 RH48498;RH98929;SGC31354 C10orf34;C2360;FLJ25854;MRP-S37 28S ribosomal protein S37, mitochondrial;OTTHUMP00000019827;coiled-coil-helix-coiled-coil-helix domain-containing protein 1;nuclear protein C2360 protein-coding ENSG00000172586 HGNC:23518 12313 608842 VALIDATED 1347670 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014] 22 22 22 q11.23 7947114 7949233 - 24108021 24110141 - 23765834 23768438 - 6480464;8699517 12477932;15489334;18029348;19913121;20628086;20877624;20888800;22017425;24934289 400916 B5MBW9;E5RGN4;E5RH03;Q8WYQ3 AB050774;ABBA01055120;AI247342;AK289560;AMYH02038133;AP000349;BC053570;BC065232;BM128374;BM128609;CB112856;CH471095;CN273854;NG_034223;NM_001301339;NM_213720;NR_125755;NR_125756;XM_006724241;XM_006725407 AAH65232;BAB83036;BAF82249;EAW59602;NP_001288268;NP_998885;Q8WYQ3;XP_006724304;XP_006725470 Hs.66915 5121426 RH46921 C22orf16;FTDALS2;MGC70831;N27C7-4 OTTHUMP00000198408;OTTHUMP00000198409;coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial protein-coding ENSG00000250479 HGNC:15559 12797 615903;615911 REVIEWED 6480946 CHCHD2P1 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 1 X X 122918859 122919301 + 123785009 123785451 + 100874506 ABBA01036381;AL023575;AMYH02040403;NG_032323 pseudo HGNC:39585 INFERRED 1320361 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 FOUND IN mitochondrion; INTERACTS WITH all-trans-retinoic acid; atrazine; cyclosporin A 7 7 7 p11.2 67222175 67227096 - 56169266 56174187 - 56101573 56106494 - 6480464 12477932;12853948;15489334;17207965;17500595;19343720;19680543;19850743;20877624;22505724;22939629;23303788 51142 Q9Y6H1 ABBA01061851;ABBA01061852;AC006970;AF078845;AMYH02015750;AY605046;AY633613;BC003079;BC015639;BC066331;BC071985;BC100275;BF347122;CH471140;NM_016139 AAD44477;AAH03079;AAH15639;AAH66331;AAH71985;AAI00276;AAQ96886;AAT35813;AAV33306;ACE87061;ACE87742;ADQ32967;EAX07990;NP_057223;Q9Y6H1 Hs.389996;Hs.547257 1699034;5097043;5124675 G62103;RH103090;RH79870 C7orf17;NS2TP 16.7kD protein;HCV NS2 trans-regulated protein;OTTHUMP00000159799;aging-associated gene 10 protein;coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial protein-coding ENSG00000106153 HGNC:21645 09879 VALIDATED 5128925 CHCHD2P10 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 10 8 8 8 q11.23 51094705 51095156 - 55103845 55104614 - 54191285 54192054 - 18997786 392221 ABBA01041741;AC060764;AMYH02018002;NG_028946 pseudo HGNC:39593 INFERRED 7253211 CHCHD2P11 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 11 13 13 42755551 42756384 - 42181415 42182248 - 101060040 ABBA01021257;AL139328;AMYH02027930 pseudo HGNC:49029 MODEL 5129003 CHCHD2P2 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 2 5 5 5 q13.2 65632836 65633276 + 68629693 68630454 + 69333866 69334627 + 728324 ABBA01048276;AC145132;AC145145;AMYH02011472;NG_028950 1699034 RH103090 pseudo HGNC:39586 INFERRED 6480941 CHCHD2P4 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 4 6 6 134714280 134714647 - 134393142 134393509 - 100874507 ABBA01025855;AL096815;AMYH02014530;NG_032324 pseudo HGNC:39588 INFERRED 5129000 CHCHD2P3 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 3 19 19 19 q13.11 31311472 31311923 + 34617830 34618621 + 34126925 34127716 + 100128110 ABBA01004322;AC016587;AMYH02035948;NG_028973 pseudo HGNC:39587 INFERRED 6480945 CHCHD2P5 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 5 1 1 94386825 94387225 - 93921269 93921669 - 100874508 ABBA01045517;AL117351;AMYH02001506;NG_032325 pseudo HGNC:39589 INFERRED 6480948 CHCHD2P7 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 7 4 4 88707075 88707514 - 87785923 87786362 - 100874509 ABBA01063538;AC093768;AMYH02009682;NG_032326 pseudo HGNC:39591 INFERRED 5128915 CHCHD2P6 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 6 1 1 1 p36.21 14413268 14414402 + 15931023 15931813 + 15604528 15605318 + 645317 ABBA01004706;AL121992;AMYH02000362;NG_028927 FLJ34180 coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial-like pseudo HGNC:39590 INFERRED 5128926 CHCHD2P8 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 8 13 13 13 q12.2 9756821 9757102 + 28681732 28682013 + 28107595 28107876 + 11181995;20877624 646630 ABBA01035730;AL356915;AMYH02027763;CH471075;NG_006975 EAX08426;EAX08427 pseudo HGNC:39592 INFERRED 1602600 CHCHD2P9 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 9 FOUND IN mitochondrion (inferred) 9 9 9 q21.31 52583546 52584319 + 82006182 82006955 + 79391267 79392040 + 6480464 645345 Q5T1J5 ABBA01033955;AL450243;AMYH02021059;NG_009939 1764139 SHGC-147781 C9orf49;CHCHD9 APPROVED pseudo HGNC:23676 17395 INFERRED 7176398 CHCHD3P1 coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 1 10 10 10 p14 8587427 8588104 + 8661896 8662573 + 8619933 8620610 + 338591 ABBA01034722;AL139403;AMYH02022096;NG_022161 2145689 A006U30 pseudo HGNC:44697 INFERRED 7175989 CHCHD3P2 coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 2 12 12 12 72669024 72669664 + 73004458 73005098 + 72610678 72611318 + 100422354 ABBA01026501;AC078921;AMYH02026747;NG_024109 1746959 G64826 pseudo HGNC:44698 INFERRED 7176059 CHCHD3P3 coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 3 1 1 1 p36.11 25924778 25925421 - 27527327 27527964 - 27200836 27201473 - 646572 ABBA01034959;AL590640;AMYH02000594;NG_030193 1773989;2145689;2166467 A003B39;A006U30;D7S2645 pseudo HGNC:44699 INFERRED 1321831 CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008] 3 3 3 p25.1 14091884 14104678 - 14153577 14166371 - 14112077 14124871 - 737633;6480464 12477932 14702039;15489334;16185709;17336303;18779329;19182799;19397338;20360068;20877624;21383138;21700214;21988832;22214851;22939629;23186364;23402259;23676665;23937629;24101517;24250222 131474 F8WDW7;Q8N4Q1 ABBA01025161;AC090004;AK056271;AK290764;AMYH02006318;BC017082;BC033775;CH471055;DB452249;DB501565;NM_001098502;NM_144636 AAH17082;AAH33775;BAB71132;BAF83453;EAW64180;EAW64181;EAW64182;EAW64183;NP_001091972;NP_653237;Q8N4Q1 Hs.517815 FLJ31709;MIA40;TIMM40 OTTHUMP00000208131;OTTHUMP00000208132;coiled-coil-helix-coiled-coil-helix domain-containing protein 4;mitochondrial intermembrane space import and assembly 40 homolog;mitochondrial intermembrane space import and assembly protein 40;translocase of inner mitochondrial membrane 40 homolog APPROVED protein-coding ENSG00000163528 HGNC:26467 13045 611077 VALIDATED 1321163 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 ENCODES a protein that exhibits phosphatase binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription; protein complex scaffold (ortholog); INVOLVED IN inner mitochondrial membrane organization; mitochondrial fusion; negative regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; mitochondrion; INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; atrazine 7 7 7 q33 127221897 127518382 - 132469623 132766839 - 132784862 133082073 - 1580863;6480464;8554872 12477932;12690205;14702039;15489334;16189514;16196087;16565220;17207965;17624330;18029348;19056867;19240061;19389623;20360068;20379614;20877624;21081504;21139048;21150319;21890473;21900206;21906983;22114354;22252321;22354994;22939629;22990118;23019327;23182705;23398456;23402259;23752268;24244333;24457600;24583282;24778252;24816145 54927 A4D1N4;C9JRZ6;F8WAR4;F8WD73;Q9NX63 ABBA01001097;ABBA01001098;ABBA01001099;ABBA01001100;AC008038;AC009365;AC083873;AC093145;AK000427;AK129533;AK294071;AK310236;AMYH02016782;AMYH02016783;AMYH02016784;AMYH02016785;AMYH02016786;AMYH02016787;BC011596;BC014839;CH236950;CH471070;KF510978;NM_017812 AAH11596;AAH14839;ADQ31869;BAA91157;BAH11665;EAL24074;EAW83800;EAW83801;EAW83802;EAW83803;NP_060282;Q9NX63 Hs.655010 1337273;1649837;1668354;1693610;1744307;1758981;1766785;1773989;1788984;1789152;2140302;2145689;2148014;2166467;2179939;2183158;5021720;5024045;7184447 A003B39;A004S13;A006U30;D7S1566;D7S1771;D7S2645;D7S640;G65571;G65719;GDB:451619;GDB:4585575;IB3127;RH66367;SHGC-151105;SHGC-152102;SHGC-30795;SHGC-58524;ksks40 FLJ20420;MINOS3;PPP1R22 OTTHUMP00000207488;OTTHUMP00000207489;OTTHUMP00000207490;coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial;mitochondrial inner membrane organizing system 3;protein phosphatase 1, regulatory subunit 22 protein-coding ENSG00000106554 HGNC:21906 13044 613748 PROVISIONAL 7174867 CHCHD4P2 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 2 9 9 9 q31.2 81358515 81359110 - 110859715 110860131 - 108097435 108097851 - 100128657 ABBA01042779;AC068050;AMYH02021425;NG_030088 2176956 D9S1091 pseudo HGNC:44490 INFERRED 7174917 CHCHD4P1 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1 7 7 7 q21.2 86775927 86776344 + 92071391 92071808 + 92442077 92442494 + 645862 ABBA01045803;AC007566;AMYH02016265;CH236949;KF458514;NG_009441 pseudo HGNC:44489 INFERRED 7174984 CHCHD4P4 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 4 3 3 3 p25.3 11211373 11211800 - 11275942 11276366 - 11234256 11234680 - 728143 ABBA01025226;AC083855;AMYH02006266;NG_030101 pseudo HGNC:44492 INFERRED 1317218 CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5 FOUND IN mitochondrion (inferred); INTERACTS WITH 2-methylcholine; copper(2+) sulfate; uranium atom 2 2 2 q13 106727581 106732162 + 113342023 113346617 + 112584446 112589040 + 6480464 12477932;14702039;15489334;22842048 84269 F8WC14;Q9BSY4 ABBA01074256;ABBA01074257;AC012442;AK096990;AK312219;AMYH02004591;BC004498;CH471217;NM_032309;XM_005263824 AAH04498;AAX82000;BAC04922;BAG35152;EAW73594;EAW73595;NP_115685;Q9BSY4;XP_005263881 Hs.375707 5125349 RH69700 C2orf9;FLJ39671;MGC11104;MIC14 OTTHUMP00000161987;OTTHUMP00000203636;coiled-coil-helix-coiled-coil-helix domain-containing protein 5;mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog protein-coding ENSG00000125611 HGNC:17840 13046 PROVISIONAL 1312070 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 INVOLVED IN cellular response to DNA damage stimulus; cristae formation; FOUND IN mitochondrial inner membrane; mitochondrion; INTERACTS WITH benzo[a]pyrene; cyclosporin A; hydrogen peroxide 3 3 3 q21.3 124847408 125103434 + 126423063 126679263 + 126704220 126960420 + 737633;6480464 12477932 15489334;16196087;17624330;19240061;19389623;20360068;20379614;21832049;21963094;22228767;22939629;23402259 84303 H0Y922;J3QTA6;J3QTB2;Q9BRQ6 ABBA01016383;ABBA01016384;ABBA01016385;AC078867;AC092898;AC117450;AK310910;AK311056;AMYH02007594;AMYH02007595;BC006123;CH471052;DN992600;JF264889;KF457677;NM_032343;XM_006713787 AAH06123;AEA95848;EAW79352;NP_115719;Q9BRQ6;XP_006713850 Hs.518119 1709156;1749205;1751329;1767786;1788148;1981130;2157187 AFM203wd10;G67238;REN61461;RH68812;SHGC-105170;SHGC-110882;SHGC-85739 CHCM1;MGC13016;PPP1R23 OTTHUMP00000215951;OTTHUMP00000215952;OTTHUMP00000215955;OTTHUMP00000215956;coiled coil helix cristae morphology 1;coiled coil helix cristae morphology protein 1;coiled-coil-helix cristae morphology 1;coiled-coil-helix cristae morphology protein 1;coiled-coil-helix-coiled-coil-helix domain-containing protein 6;coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial;protein phosphatase 1, regulatory subunit 23 protein-coding ENSG00000159685 HGNC:28184 13047 615634 VALIDATED 1347837 CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 FOUND IN mitochondrion (inferred); INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; cadmium sulfate 8 8 8 q12.1 53115008 53121870 + 57124315 57131178 + 56211756 56218619 + 737633;6480464 12477932 14702039;15489334;16736500;18391950;18391951;19266077;20546612;20877624;20922212;22842048;8125298 79145 E5RFN2;E5RHM5;E5RII1;E5RJ08;E5RJ15;J3KPV1;Q9BUK0 ABBA01041764;AC107952;AK095922;AK098285;AK225982;AK290088;AMYH02018019;AY070434;BC002546;BX473986;CH471068;NM_001011667;NM_001011668;NM_001011669;NM_001011670;NM_001011671;NM_024300;XR_428340 AAH02546;AAL65261;BAF82777;EAW86776;EAW86777;EAW86778;EAW86779;NP_001011667;NP_001011668;NP_001011669;NP_001011670;NP_001011671;NP_077276;Q9BUK0 Hs.436913 1663781;5109281;5115372 D1S1425;RH46894;RH48841 COX23;FLJ40966;MGC2217 COX23 cytochrome c oxidase assembly homolog;OTTHUMP00000082719;OTTHUMP00000226425;OTTHUMP00000226428;OTTHUMP00000226429;OTTHUMP00000226430;OTTHUMP00000226431;OTTHUMP00000227766;OTTHUMP00000227767;OTTHUMP00000227768;OTTHUMP00000227769;OTTHUMP00000227770;OTTHUMP00000227771;coiled-coil-helix-coiled-coil-helix domain-containing protein 7 protein-coding ENSG00000170791 HGNC:28314 13048 611238 VALIDATED 1315610 CHD1 chromodomain helicase DNA binding protein 1 The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008] 5 5 5 q15-q21 94075038 94146342 - 98189689 98264522 - 98855204 98928815 - 1580863;6480464;9587749;9587750;9479074 22179824;22722839;23642229 10199952;12477932;12522270;12890497;14702039;15146197;16009940;16263726;16372014;16728976;17081983;17098252;17353931;17540172;18817785;19322201;19441106;19471022;19596686;19625449;20363151;20379614;20431927;21139048;21979373;22044751;22046413;22048254;22139082;22586326;22779921;23492366;24024966;24816145;7739555;8460153;8889548;9326634 1105 B3KT33;H0Y8V4;H0Y8Z0;O14646 ABBA01069199;ABBA01069200;ABBA01069201;ABBA01069202;AC022121;AF006513;AK094871;AMYH02011846;AMYH02011847;BC054860;BC117134;BM698633;BQ436172;BX648767;CH471084;CN277742;NM_001270;XM_005271866;XM_005271867;XR_427702 AAB87381;AAH54860;AAI17135;BAG52945;EAW96098;NP_001261;O14646;XP_005271923;XP_005271924 Hs.643465 1341659;1691100;1700406;1750017;1775661;1789178;1795560;2191173 CHD1_1299;D5S2079;G65588;MARC_15733-15734:1013528717:1;RH103824;RH80994;SHGC-111713;WI-13675 CHD-1;DKFZp686E2337 ATP-dependent helicase CHD1;OTTHUMP00000222625;chromodomain-helicase-DNA-binding protein 1 APPROVED protein-coding ENSG00000153922 HGNC:1915 03668 602118 REVIEWED 1323647 CHD1L chromodomain helicase DNA binding protein 1-like This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Several alternatively spliced transcripts variants have been described for this gene. [provided by RefSeq, Jan 2012] 1 1 1 q12 122216559 122269716 - 146714291 146767447 + 147172804 147295766 + 1298632;6480464;8554872 9653160 11042152;11329013;12477932;14702039;15146197;15902274;16344560;16712791;18023026;18029348;18464913;19471022;19661379;19666485;20335658;20453000;21068133;21139048;21824431;21890473;21906983;21953552;21963094;21988832;22146311;23020525;23045548;23132853;23746766;23807680;23891004;23926104;24359616;24722188;24816145;8076819;8125298 9557 B4DPN5;Q86WJ1;Q9H678 ABBA01004398;ABBA01004399;AC241584;AC242426;AF054177;AF537213;AK001342;AK026183;AK027631;AK223496;AK293157;AK297135;AK298424;AK307400;AL356378;BC001171;BC005038;BC008649;BC043501;BC053354;BC077717;BG195857;CB153921;CH471223;CN255647;CN255649;CN255654;DA007597;DA155685;DA745071;EC452903;EF560738;KJ534809;NM_001256336;NM_001256337;NM_001256338;NM_004284;NM_024568;NR_046070;R46126;XM_006711636;XM_006711637;XM_006711638;XM_006711639 AAC39911;AAH01171;AAH05038;AAH08649;AAH43501;AAH77717;AAO49505;ABQ59048;AHW56449;BAA91637;BAB15386;BAB55248;BAD97216;BAG56702;BAG59638;BAG60647;CAH72650;EAW50936;EAW50937;EAW50938;NP_001243265;NP_001243266;NP_001243267;NP_004275;NP_078844;Q86WJ1;XP_006711699;XP_006711700;XP_006711701;XP_006711702 Hs.191164 1675698;1692618;2107923;2143341;2149069 AL034067;CHD1L_7953;RH25735;WI-11405;WI-11526 ALC1;CHDL;FLJ22530 OTTHUMP00000016308;amplified in liver cancer 1;amplified in liver cancer protein 1;chromodomain-helicase-DNA-binding protein 1-like APPROVED protein-coding ENSG00000131778 HGNC:1916 09880 613039 VALIDATED 1320737 CHD2 chromodomain helicase DNA binding protein 2 The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q26 69855404 69982772 + 93442286 93571237 + 92900321 93028007 + 1580863;6480464;8699517;7240710;8554872 12477932;14684825;14702039;15146197;16204458;16344560;16572171;17000644;17606441;19471022;19596686;20379614;21139048;22586326;23020937;23382691;23602568;23708187;24207121;24250222;24457600;9326634 1106 B7Z3I4;G3V418;G3V4S8;H3BU65;J3KRM9;J3QR73;O14647 AA907775;ABBA01053103;ABBA01053104;AC013394;AF006514;AK095933;AK292850;AK295909;AL831836;AMYH02031081;AMYH02031082;AY429527;AY429528;BC007347;BC020810;BC047036;BC107885;BT007050;BU630151;BX537626;CH471101;CN277753;CT003638;DB111282;DB121252;DQ088985;DQ088986;KF456121;NG_012826;NM_001042572;NM_001271 AAB87382;AAH07347;AAH20810;AAI72425;AAP35699;AAZ85980;AAZ85981;ADZ15488;BAF85539;BAH12220;EAX02160;EAX02161;EAX02162;EAX02163;EAX02164;EAX02165;NP_001036037;NP_001262;O14647 Hs.220864 1648898;1674601;1676794;1680395;1683942;1849999;1852109;1857925;2113168;2113180;2116594;2123683;2126226;2135272;2141329;2156624;2159646;2170985;5094847 1876;A003M08;CHD2;D15S1298;D15S1494;D15S1501;HSC2CD122;HSCZYG012;RH11204;RH44328;RH44878;RH46033;RH66633;RH78806;RH80079;RH93743;SHGC-37648;STS-N29696;WI-20731 CHD-2;DKFZp547I1315;DKFZp686E01200;DKFZp781D1727;EEOC;FLJ38614 ATP-dependent helicase CHD2;OTTHUMP00000194776;OTTHUMP00000246834;OTTHUMP00000246835;OTTHUMP00000246836;chromodomain-helicase-DNA-binding protein 2 APPROVED protein-coding ENSG00000173575 HGNC:1917 03669 602119;615369 REVIEWED 1349317 CHD3 chromodomain helicase DNA binding protein 3 This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7815816 7843619 + 7788096 7816075 + 7884780 7912757 + 1580863;6480464;9587766;9585661;8554872 21472101;24880148 10204490;10444591;10471500;10662545;10961991;11230151;11297506;11784859;11850410;12198550;12374985;12431981;12453419;12477932;12493763;12505151;12705869;14609633;14702039;15020045;15231748;15302935;15383276;15454082;15456747;15635413;16169070;1639417;16455055;16574654;16728976;17027977;17081983;17344210;17489097;17626165;17827154;17922035;18029348;18082607;18235501;18451880;18922793;19471022;19497860;19703393;20547755;20585571;20676135;21196933;21252943;21642969;21890473;21900206;21906983;21937684;21963094;22140357;22457607;22505724;22939629;23000965;23314748;23667531;23752268;24018422;24250222;24425734;24457600;24639526;24816145;7560064;7575689;8843877;8889548;9326634;9688266;9804427;9885572;9921901 1107 B3KWV4;H7C0J3;H7C2H0;H7C3H7;I3L1I4;I3L229;K7EPV1;Q12873;Q2TAZ1 ABBA01054890;AC104581;AF064844;AK096555;AK125928;AK296725;AK296937;AK308362;AMYH02032917;AMYH02032918;BC110648;BM554923;BX283837;CB851648;CH471108;KF456246;NM_001005271;NM_001005273;NM_005852;U08379;U91543;XM_005256427;XM_005256428;XM_005256429;XM_005256431;XM_006721423;XM_006721424;XM_006721425;XM_006721426;XM_006721427;XM_006721428;XM_006721429;XM_006721430 AAC39923;AAC50228;AAI10649;AAI56473;BAG54266;BAG59313;BAG59488;EAW90114;EAW90115;EAW90116;NP_001005271;NP_001005273;NP_005843;Q12873;XP_005256484;XP_005256485;XP_005256486;XP_005256488;XP_006721486;XP_006721487;XP_006721488;XP_006721489;XP_006721490;XP_006721491;XP_006721492;XP_006721493 Hs.25601 1340563;1776294;2109133;2117413;2125212;2144424;2186753 CHD3_7231;D17S1796;DXS7495;RH12021;RH47412;WI-18497;WI-22609 CHD-3;Mi-2a;Mi2-ALPHA;ZFH;hZFH ATP-dependent helicase CHD3;OTTHUMP00000197335;OTTHUMP00000197336;OTTHUMP00000197337;chromodomain-helicase-DNA-binding protein 3;mi-2 autoantigen 240 kDa protein;zinc finger helicase;zinc-finger helicase (Snf2-like) APPROVED protein-coding ENSG00000170004 HGNC:1918 09071 602120 REVIEWED 1317694 CHD5 chromodomain helicase DNA binding protein 5 This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012] 1 1 1 p36.31 5276664 5354707 - 6161847 6240194 - 6101787 6180134 - 1580863;6480464;9585661;8554872 24880148 10718198;12168954;12592387;14702039;15489334;16710414;17081983;17289567;18413720;18577749;18698156;18953434;19840376;19946888;20950435;21250965;21636313;21860208;21963094;22186629;22235338;22294723;22328561;22505724;22569290;22855185;22910690;23000965;23168260;23707602;23948251;24243398;24454811;24816145;9455484 26038 F2Z2R5;F6T542;K7EMC0;K7EMY3;K7ESA5;Q8TDI0 AB007913;ABBA01035435;ABBA01035436;ABBA01035437;ABBA01035438;AF425231;AK091386;AK126012;AK127046;AL031847;AL035406;AL110281;AL117491;AL137693;AMYH02000168;AW005809;BC048142;CH471130;KF495851;NM_015557 AAI46382;AAI48804;AAL98962;BAA32289;BAC86391;BAC86802;BAG52346;CAB55959;CAH56377;CAH56404;EAW71516;NP_056372;Q8TDI0 Hs.522898 1680288;1760119;2107925;2176665;2187321 CHD5_8020;G29319;RH80639;SHGC-108153;SHGC-74144 CHD-5;DKFZp434N231;KIAA0444 ATP-dependent helicase CHD5;OTTHUMP00000001137;OTTHUMP00000001138;chromodomain-helicase-DNA-binding protein 5 APPROVED protein-coding ENSG00000116254 HGNC:16816 10828 610771 VALIDATED 1322684 CHD4 chromodomain helicase DNA binding protein 4 The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] 12 12 12 p13 8296110 8333413 - 6679248 6716551 - 6570082 6607439 - 734775;1580863;6480464;9585661;8554872 24880148;7575689 10220385;10444591;10545197;11003653;11102443;11790298;12015313;12124384;12354758;12374985;12477932;12493763;12842043;12920132;14530259;14702039;15144897;15189737;15231747;15302935;15489334;15561718;15635413;15701600;15882967;16091750;16159877;16186106;16196087;16217013;16574654;17081983;17314511;17403666;17620012;17626165;17694084;18029348;18247557;18644863;19158090;19296121;19321449;19322201;19394292;19454010;19471022;19497860;19615732;19624289;19644445;19703393;19738201;19759913;19946888;20127688;20585571;20693977;20714342;21139048;21182205;21219611;21252943;21258344;21278251;21532573;21549307;21670149;21693764;21888893;21890473;21906983;21963094;22053931;22075476;22113938;22145905;22219182;22302795;22505724;22531782;22575888;22586326;22623428;22749909;22926524;22939629;23000965;23011797;23022380;23049088;23071088;23104009;23697937;23708667;23752268;23954449;24332808;24440720;24457600;24576085;24639526;24816145;24991957;25027693;7560064;8843877;9326634;9790534;9804427;9885572 1108 B3KY63;F5GWX5;F5H596;F5H6N4;Q05CG6;Q14839 AA099889;ABBA01017645;ABBA01017646;ABBA01017647;AC006064;AK128741;AMYH02025953;BC014964;BC025962;BC038596;BP234473;CH471116;CR936680;NM_001273;NM_001297553;X86691;XM_005253668;XM_006718958;XM_006718959;XM_006718960;XM_006718961;XM_006718962 AAH14964;AAH25962;AAH38596;ABZ92034;BAG54725;CAA60384;EAW88777;EAW88778;EAW88779;NP_001264;NP_001284482;Q14839;XP_005253725;XP_006719021;XP_006719022;XP_006719023;XP_006719024;XP_006719025 Hs.162233 1664555;1666728;1673699;1705298;1733588;2131374;2151260;2158245;2191365;2217148;5096535 CHD4_3948;D12S1958;D12S925;G41277;MARC_17871-17872:1025017089:1;RH125;RH48433;RH48724;RH64827;SHGC-78606;WI-17749 CHD-4;DKFZp686E06161;Mi-2b;Mi2-BETA ATP-dependent helicase CHD4;Mi-2 autoantigen 218 kDa protein;OTTHUMP00000240273;OTTHUMP00000240274;chromodomain-helicase-DNA-binding protein 4 APPROVED protein-coding ENSG00000111642 HGNC:1919 04472 603277 REVIEWED 1321381 CHD6 chromodomain helicase DNA binding protein 6 This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013] 20 20 20 q12 36741838 36957790 - 40030741 40247133 - 41402101 41618494 - 1580863;6480464;8554872 10718198;11780052;11889561;12168954;12477932;14702039;15231748;15489334;16314513;16713569;17027977;17081983;17525332;20085707;20379614;20631145;20936779;21139048;21899694;22745009;23408615;23667531 84181 C9JFU2;H7C294;Q8TD26 AB037756;ABBA01052579;ABBA01052580;ABBA01052581;AF525085;AK026022;AK091551;AK098144;AK296955;AL031667;AL031669;AL121674;AMYH02037090;AMYH02037091;AMYH02037092;AMYH02037093;AY034072;BC012516;BC021907;BC039860;BC040016;BF063641;BM973992;CH471077;CR749575;KF456907;KF511304;NM_032221;XM_005260573;XM_005260574;XM_005260575;XM_005260576;XM_006723883 AAH21907;AAI72397;AAK56405;AAN59903;BAA92573;BAB15325;BAG59500;EAW75974;EAW75975;EAW75976;EAW75977;EAW75978;EAW75979;EAW75980;EAW75981;NP_115597;Q8TD26;XP_005260630;XP_005260631;XP_005260632;XP_005260633;XP_006723946 Hs.740645 1648070;1666769;1673233;1771544;1784412;2125725;2182519;2183553;5015861;5022200;5037552;7185938 AL023701;D10S16;D20S997;D8S2279;L18426;SHGC-82496;WIAF-1711;Z94307;Z94510;Z94571;Z94700 CHD-6;CHD5;KIAA1335;RIGB ATP-dependent helicase CHD6;OTTHUMP00000031013;chromodomain-helicase-DNA-binding protein 6;helicase C-terminal domain- and SNF2 N-terminal domain-containing protein;radiation-induced gene B protein APPROVED protein-coding ENSG00000124177 HGNC:19057 13049 REVIEWED 1342489 CHD8 chromodomain helicase DNA binding protein 8 This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early development and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 14 14 14 q11.2 1718849 1770858 - 21853353 21924276 - 21385194 21437298 - 1580863;6480464;6907045;8554872 10921920;10997877;11549288;11744694;12168954;12477932;14702039;15146197;15367660;15456888;15489334;15960975;16344560;16949368;16964243;17000644;17081983;17846119;17938208;18378692;18729074;19151705;19255092;19454010;19471022;20085832;20215423;20308527;20453063;20811636;20936779;21139048;21653943;21693764;21906983;21988832;22083958;22412018;22495309;22495311;22505724;22586326;23667531;23835524;24211491;24265227;24816145;7505766 57680 G3V2T9;G3V303;H0YJA4;H0YJG4;Q9HCK8 AB046784;ABBA01061245;ABBA01061246;AK056639;AK098408;AK122868;AK122910;AK131077;AL135744;AL161747;AL834524;AMYH02028838;AW327785;BC011695;BC025964;BC036920;BC063693;BC073903;BC098452;CH471078;CN290520;CR749315;DA327823;DB344386;NG_021249;NM_001170629;NM_020920;U00930 AAH11695;AAH25964;AAH36920;AAH63693;AAH73903;AAH98452;AAI56440;BAB13390;BAC85127;CAD39180;CAH18170;EAW66385;NP_001164100;NP_065971;Q9HCK8 Hs.530698 1725367;1773999;1774001;2116672;2123649;2138900;2172357;2179329;2219128;5022026 A004V16;A005R45;BE589327;D14S1321;G20455;G36016;HELSNF1__6709;RH119001;WI-14045;WI-20203 AUTS18;CHD-8;DKFZp686N17164;HELSNF1;KIAA1564 ATP-dependent helicase CHD8;OTTHUMP00000244355;OTTHUMP00000244442;axis duplication inhibitor;beta-catenin binding protein-like;chromodomain-helicase-DNA-binding protein 8;duplin;helicase with SNF2 domain 1 APPROVED protein-coding ENSG00000100888 HGNC:20153 16712 610528;615032 REVIEWED 1323630 CHD7 chromodomain helicase DNA binding protein 7 This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. [provided by RefSeq, Jul 2008] 8 8 8 q12.2 57580946 57769196 + 61591321 61780587 + 60678762 60868028 + 6480464;6484113;7240710;8554872;8699517 10590394;10718198;10737800;12168954;12477932;14702039;15300250;15302935;16118347;16155193;16169932;16207732;16400610;16763960;17253929;17299439;17436250;17603073;17661815;17684005;17937444;17952062;18073582;18074359;18445044;18472328;18484313;18505430;18834967;18978652;19021638;19065520;19159393;19248844;19279158;19336370;19471022;20130577;20186815;20301296;20301509;20301533;20301552;20301753;20425471;20453063;20507341;20591827;20624498;20634891;20736290;20800603;20811636;20943277;21041284;21139048;21158681;21532573;21554267;21890473;21931733;22302456;22399515;22424883;22461308;22539353;22586326;22646239;22724017;23000965;23134727;23187639;23333604;23396134;23533228;23667531;23677905;23883829;23956205;24211491;24626090;8125298;9556299 55636 E9PP20;H0YD01;H0YDC1;Q6ZWF9;Q9P2D1 AB037837;ABBA01041815;ABBA01041816;ABBA01041817;ABBA01041818;AC023102;AC113143;AK000364;AK000368;AK123158;AK225354;AK295751;AL833190;AMYH02018057;AMYH02018058;AMYH02018059;AMYH02018060;AW750162;BC014681;BC033116;BC041018;BC051264;BC053890;BC068000;BC080627;BC110818;BI039198;CH471068;CR984604;GU060498;NG_007009;NM_017780;W78145;XM_005251266;XM_005251267;XM_006716459;XM_006716460 AAH14681;AAH51264;AAH53890;AAH68000;AAH80627;AAI10819;AAI72443;ACY35999;BAA91113;BAA91116;BAA92654;BAC85544;BAG58582;EAW86830;EAW86831;EAW86832;EAW86833;EAW86834;NP_060250;Q9P2D1;XP_005251323;XP_005251324;XP_006716522;XP_006716523 Hs.20395;Hs.733236 1644175;1679179;1706148;1714971;1719221;1725387;1735730;1755791;2125919;2126460;2177884 D8S1349E;D8S1986;D8S2048;RH119011;RH120823;RH123329;RH94208;SHGC-142634;SHGC-57936;SHGC-80117;WI-11635 CHD-7;CRG;FLJ20357;FLJ20361;HH5;IS3;KAL5;KIAA1416 ATP-dependent helicase CHD7;CHARGE association;OTTHUMP00000229376;chromodomain helicase DNA binding protein 7 isoform CRA_e;chromodomain-helicase-DNA-binding protein 7 APPROVED protein-coding ENSG00000171316 HGNC:20626 10595 214800;608765;608892;612370 REVIEWED 1351462 CHE2 cholinesterase (serum) 2 2758686 1110 HGNC:1922 177500 1315612 CHD9 chromodomain helicase DNA binding protein 9 ENCODES a protein that exhibits ATP binding (inferred); DNA binding (inferred); helicase activity (inferred); INVOLVED IN cellular lipid metabolic process (inferred); chromatin modification (inferred); metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); nucleoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene 16 16 16 q12.2 37603818 37876244 + 53088905 53361414 + 53054993 53327502 + 6480464;8554872 10931946;12477932;14702039;16095617;16523501;16554032;16705189;17081983;19471022;20379614;21139048;21693764;23667531;23969696;8889548;9205841 80205 H3BRU9;H3BSP3;H3BTW3;H3BV31;I3L340;J3KRH9;J3KSW5;Q3L8U1;Q461N2 AB002306;ABBA01066486;ABBA01066487;ABBA01066488;ABBA01066489;ABBA01066490;ABBA01066491;ABBA01066492;AC007906;AC079416;AK022240;AK022582;AK092208;AK299045;AL693511;AMYH02032038;AMYH02032039;AMYH02032040;AMYH02032041;AMYH02032042;AMYH02032043;AY243500;AY243501;AY243502;AY243504;AY647157;BC022889;BC027491;BC033770;BC140815;BC144622;BM667038;BX390832;CH471092;DQ059482;DQ333316;NM_025134;XM_005256168;XM_005256169;XM_005256170;XM_005256171;XM_005256172;XM_005256174;XM_005256175;XM_005256176;XM_006721280;XM_006721281;XM_006721282;XM_006721283;XR_429731 AAH33770;AAI40816;AAI44623;AAQ24287;AAQ24288;AAQ24289;AAT66509;AAY87153;ABD24032;BAA20767;BAB14112;BAC03829;BAG61119;EAW82793;EAW82794;EAW82795;EAW82796;EAW82797;EAW82798;NP_079410;Q3L8U1;XP_005256225;XP_005256226;XP_005256227;XP_005256228;XP_005256229;XP_005256231;XP_005256232;XP_005256233;XP_006721343;XP_006721344;XP_006721345;XP_006721346 Hs.59159;Hs.622347 1340357;1678453;1684964;1687265;1687720;1736568;1781158;2148194;2159370;2161018;2191229;5021688;5122247 D16S2560E;D16S3034;D16S472E;G10682;G36101;MARC_16469-16470:1019838682:1;RH65296;RH75588;RH98880;RH99233;SHGC-60563;SHGC-61158;ksks178 AD013;CHD-9;CReMM;KISH2;PRIC320 ATP-dependent helicase CHD9;PPAR-alpha-interacting complex protein 320 kDa;PPAR{gamma}-interacting cofactor 320 kDa;chromatin remodeling factor CHROM1;chromatin-related mesenchymal modulator;chromatin-remodeling factor CHROM1;chromodomain-helicase-DNA-binding protein 9;ciprofibrate bound protein p240;kismet homolog 2;peroxisomal proliferator-activated receptor A-interacting complex 320 kDa protein;proteinx0008 protein-coding ENSG00000177200 HGNC:25701 08570 VALIDATED 1353204 CHED2 corneal endothelial dystrophy 2 (autosomal recessive) ASSOCIATED WITH Corneal dystrophy and perceptive deafness (inferred); Corneal Dystrophy, Fuchs Endothelial, 4 (inferred); Corneal endothelial dystrophy type 2 (inferred) 7240710 10209448;10512674 9574 HGNC:1924 217400;217700;613268 5553011 CHEK2P2 checkpoint kinase 2 pseudogene 2 15 15 q11.1 20487997 20496811 + 20282744 20291558 + 15153943;16478982 646096 ABBA01113727;ABBA01139776;AC126603;AMYH02029982;BX336284;BX336285;NR_038836 Hs.448789 1791468;1791470;1792350 PMC111029P13;PMC111029P14;PMC149355P2 pseudo ENSG00000259156 HGNC:43578 VALIDATED 6481553 CHEK2P3 checkpoint kinase 2 pseudogene 3 2 2 92151549 92151638 + 91963523 91963612 + 100873791 ABBA01048753;AC128677;AMYH02004287;NG_032562 pseudo HGNC:43579 INFERRED 1344600 CHED1 corneal endothelial dystrophy 1 (autosomal dominant) ASSOCIATED WITH CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT (inferred) 7240710 8634716 8197 1335976;2179756;7185117 D20S114;D20S471;D20S48 HGNC:1923 121700 4106123 CHEK2P1 checkpoint kinase 2 pseudogene 1 Y Y q11.21 13568223 13574548 + 11412547 11418872 + 9847074 100133012 AC134879;NG_029074 CHEK2L1 CHK2 checkpoint homolog (S. pombe)-like 1 APPROVED pseudo HGNC:37999 INFERRED 1605820 CHDC2 calponin homology domain containing 2 While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009] X X X p21.1 40192665 40290788 + 36057125 36163187 + 36046936 36145070 + 6480464;8554872 12477932;14702039;15489334;15772651;19377476 286464 Q8N9S7 ABBA01073530;ABBA01073531;ABBA01073532;ABBA01073533;ABBA01073534;ABBA01073535;ABBA01073536;ABBA01073537;ABBA01073538;ABBA01073539;AK093920;AL590065;AL603753;AMYH02039164;AMYH02039165;BC101698;BC101700;CH471074;NG_016381;NM_173695 AAI01699;AAI01701;BAC04251;EAW99076;NP_775966;Q8N9S7 Hs.376425 CXorf59;FLJ36601;MGC126747;MGC126749;RP13-11B7.1 OTTHUMP00000023134;calponin homology domain-containing protein 2;hypothetical protein LOC286464;uncharacterized protein CXorf59 APPROVED protein-coding ENSG00000176034 HGNC:26708 06561 VALIDATED 1347167 CHDH choline dehydrogenase The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010] 3 3 3 p21.1 53817666 53847699 - 53850324 53880420 - 53816297 53846393 - 1580863;6480464;6907045;8554872 12477932;15146197;15489334;16816108;17975144;18230680;19471022;19737740;20031640;20175737;20237496;20662904;20877624;21308979;21900206;22387881;22558321;24144296 55349 C9J7D8;C9JYW4;Q8NE62 ABBA01024471;AC012467;AJ272267;AK297575;AMYH02006831;BC034502;BE856786;CH471055;CN285856;NG_028042;NM_018397;XM_006713250;XM_006713251;XM_006713252 AAH34502;ACE86630;ACE87312;BAG59966;CAB75961;EAW65296;EAW65297;NP_060867;Q8NE62;XP_006713313;XP_006713314;XP_006713315 Hs.126688;Hs.729536 1697434;2117719;5016781;5093926 A009Z06;G33005;RH102217;SHGC-67307 CDH;CHD OTTHUMP00000212738;choline dehydrogenase, mitochondrial APPROVED protein-coding HGNC:24288 13050 REVIEWED 732861 CHEK2 checkpoint kinase 2 In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 22 22 22 q12.1 12883692 12937801 - 29083731 29137822 - 28687743 28741834 - 1580863;1599601;2289704;2289706;2289703;2289705;2289707;2289708;2298483;2298484;2298482;2293868;2296067;2316155;2316156;6480464;6484113;6907045;7240710;8554872;8699517 11593395;11875739;11967536;12702777;16601750;16828850;17085682;17145815;17164260;17661168;17918154;18085035;18299147;19450511 10097108;10435585;10557092;10591208;10617473;10673500;10673501;10710310;10713094;10724175;10744722;10801407;10973490;11073977;11172707;11298456;11333986;11390408;11438675;11461078;11551930;11715017;11719428;11741546;11746983;11751432;11793476;11821419;11901158;11984555;12024051;12049740;12049741;12052256;12094328;12111733;12242661;12386164;12393693;12402044;12438214;12441400;12447371;12454775;12477932;12493754;12529183;12533788;12548019;12551934;12556502;12607004;12610780;12654916;12654917;12676583;12690581;12711320;12717439;12759351;12805407;12810724;12855706;12897801;12909615;12917215;14507240;14514889;14568168;14612911;14623252;14624239;14648717;14678969;14681223;14701743;14716295;14744935;14970869;14997059;15001356;15024084;15044452;15048074;15057041;15064416;15087378;15095295;15122511;15149599;15192702;15239132;15342622;15361830;15361851;15361853;15380617;15385111;15461802;15466005;15467464;15472904;15488637;15489334;15492928;15535844;15601819;15618221;15647386;15649950;15659650;15668230;15694385;15700044;15784679;15790808;15803363;15803365;15810020;15818573;15852425;15862297;15876876;15933716;15942682;15964795;15980987;15987456;16043347;16078115;16163388;16239104;16257342;16311512;16317088;16337852;16341674;16414312;16437383;16452051;16481012;16492927;16539695;16574953;16596250;16671833;16705183;16732333;16741947;16758118;16790090;16794575;16798742;16816021;16830057;16835227;16835864;16858628;16880452;16883537;16905549;16914568;16936775;16940182;16941491;16943424;16983346;16998498;16998506;17010071;17026620;17030982;17035231;17040931;17074762;17101782;17106448;17113724;17132159;17132695;17157788;17164383;17169815;17178848;17214356;17250914;17317627;17333333;17333477;17341484;17372254;17380128;17380889;17409144;17409195;17428320;17428325;17464182;17517688;17525332;17544403;17634426;17663721;17671118;17684142;17694537;17698850;17705858;17715138;17721994;17876702;18004398;18024013;18058223;18086781;18086786;18162465;18167186;18172190;18175216;18178638;18253122;18270339;18281249;18297428;18317453;18321553;18381420;18381943;18415014;18480045;18482988;18484200;18538787;18557994;18566216;18566483;18571837;18622427;18644861;18667510;18676774;18706089;18725978;18759107;18797466;18802408;18804494;18812180;18833288;18834326;18930998;18948271;18950845;18955500;18957425;18971944;18996005;19020308;19021634;19030985;19062161;19064572;19116388;19124502;19124506;19151762;19164952;19176998;19177012;19265784;19275588;19289404;19322201;19338682;19338683;19362748;19372713;19375317;19399639;19401704;19451272;19453842;19473886;19480937;19536092;19548527;19556897;19597488;19609724;19615254;19656415;19714462;19763819;19768534;19772467;19782031;19789190;19798429;19839522;19840931;19855918;19863560;19876921;19881958;19922265;19996108;20023412;20023427;20080130;20126263;20159774;20200249;20204303;20301425;20306497;20360068;20364141;20417869;20434834;20442702;20453000;20462940;20472656;20496165;20548946;20581449;20599567;20643596;20644561;20658728;20668524;20713355;20722467;20729852;20731661;20875877;21034966;21070773;21118956;21156285;21184685;21244692;21317874;21356067;21562711;21614566;21618645;21701879;21744992;21765476;21772273;21787115;21807500;21832049;21874023;21876083;21907711;21924579;21934670;21945852;21956126;21988832;22058216;22058428;22071692;22072393;22114986;22158418;22159226;22160829;22201027;22211259;22266820;22294770;22355270;22419737;22420423;22496453;22521562;22586065;22658458;22747683;22770119;22799331;22808196;22811390;22862163;22901170;22946335;22960999;22994785;23073808;23107771;23109433;23109706;23150219;23178491;23269272;23296741;23329222;23333640;23415889;23449389;23535729;23602568;23690919;23713947;23806170;23821772;23969480;24002546;24021642;24065469;24390236;24415413;24480460;24498068;24532427;24599715;24657486;24764296;24798733;24880342;9278512;9407135;9450932;9836640;9857181;9889122 11200 B7ZBF2;B7ZBF6;B7ZBF7;B7ZBF8;C9JFD7;E7EPP1;F8WCV2;H0Y4V6;H0Y820;H7BZ30;H7C0V7;O96017 AB040105;ABBA01055237;ABBA01055238;ABBA01055239;AF086904;AF096279;AF174135;AF217975;AJ131197;AJ783839;AK289360;AK290754;AL117330;AL121825;AMYH02038191;AMYH02038192;AW778747;AY551295;AY551296;AY551297;AY551298;AY551299;AY551300;AY551301;AY551302;AY551303;AY551304;AY551305;AY800241;BC004207;BM838597;CH471095;CR456418;KF457394;NG_008150;NM_001005735;NM_001257387;NM_007194;NM_145862;XM_006724114;XM_006724115;XM_006724116;XR_244350 AAC83693;AAD11784;AAD48504;AAG17218;AAH04207;AAS58456;AAS58457;AAS58458;AAS58459;AAS58460;AAS58461;AAS58462;AAS58463;AAS58464;AAS58465;AAS58466;AAV41895;ABM84059;ABM87412;BAB17231;BAF82049;BAF83443;CAA10319;CAG30304;CAH04270;CAK54410;CAK54709;EAW59754;EAW59755;EAW59756;EAW59757;NP_001005735;NP_001244316;NP_009125;NP_665861;O96017;XP_006724177;XP_006724178;XP_006724179 Hs.291363;Hs.505297 1336715;1791462;1791464;1791466;1791468;1791470;1791472;1791474;1791476;1791478;1791480;1791482;1791484;1791486;1792350 D22S275;PMC111029P1;PMC111029P10;PMC111029P12;PMC111029P13;PMC111029P14;PMC111029P2;PMC111029P3;PMC111029P4;PMC111029P5;PMC111029P6;PMC111029P7;PMC111029P8;PMC111029P9;PMC149355P2 CDS1;CHK2;HuCds1;LFS2;PP1425;RAD53;hCds1 CHK2 checkpoint homolog;OTTHUMP00000198969;OTTHUMP00000198970;OTTHUMP00000199044;OTTHUMP00000199045;OTTHUMP00000199064;OTTHUMP00000199115;OTTHUMP00000199116;cds1 homolog;checkpoint-like protein CHK2;serine/threonine-protein kinase Chk2 2303083 MAMTS47_H APPROVED protein-coding ENSG00000183765 HGNC:16627 05084 114480;176807;259500;604373;609265 REVIEWED 1313214 CHERP calcium homeostasis endoplasmic reticulum protein ENCODES a protein that exhibits ion channel binding; poly(A) RNA binding; INVOLVED IN cellular calcium ion homeostasis; negative regulation of cell proliferation; positive regulation of NFAT protein import into nucleus; PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; membrane; perinuclear region of cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cobalt dichloride; 2,4-dinitrotoluene (ortholog) 19 19 19 p13.1 16530540 16555103 - 16628700 16653341 - 16517889 16542452 - 1580863;6480464;6907045;8554872 10794731;12234937;12477932;12656674;15146197;15576338;16055720;17332742;18781797;19850743;19946888;20360068;20467438;21139048;21454501;21890473;21906983;21988832;22365833;22505724;22586326;22751105;22939629;23000965;23148228;23602568;24078636;24332808;24457600;24654937;8896557 10523 J3QK89;Q8IWX8 AA782418;AB209730;ABBA01051149;AC008764;AF536542;AK296883;AK298408;AMYH02035684;BC001552;BC021294;BC035039;CH471106;CN336425;NG_031959;NM_006387;U94836;Y08265 AAB53327;AAH21294;AAN77183;BAD92967;BAG59444;BAG60636;CAA69591;EAW84549;NP_006378;Q8IWX8 Hs.740364 1655567;1666730;1681901;1722419;1745927;1770250;2109135;2132389;2132914;2132916;2136396 1980;A001Y07;AF021124;CHERP_9130;D19S680E;G19773;G60283;G64277;RH16018;RH47535;RH93501 DAN16;SCAF6;SRA1 ERPROT 213-21;ERPROT213-21;OTTHUMP00000240723;OTTHUMP00000240724;SR-related CTD associated factor 6;SR-related CTD-associated factor 6;protein with polyglutamine repeat protein-coding ENSG00000085872 HGNC:16930 VALIDATED 732292 CHEK1 checkpoint kinase 1 The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] 11 11 11 q24.2 122655346 122706400 + 125495031 125546150 + 125625136 125676255 + 1580863;2317235;2316155;2316156;2316109;2317234;6480464;6484113;6907045;8554872 11278490;15448002;16601750;18381943;19450511 10557092;10608806;10673501;10681541;10717241;10761933;10859164;11016625;11252893;11329013;11333986;11390642;11535615;11551930;11709713;11799067;11821419;11836499;11896572;11912127;12062056;12150968;12244092;12399544;12446774;12477932;12588868;12660173;12676583;12676925;12676962;12738771;12756247;12759351;12766152;12791699;12791985;12813133;12902976;12955071;12959929;12963847;14504477;14559997;14570880;14624239;14657349;14681206;14681223;14759516;14988723;15149599;15220350;15225637;15279790;15311285;15324660;15326376;15342556;15364958;15489334;15526025;15539958;15601819;15647386;15650047;15655357;15659650;15665856;15688426;15699047;15705874;15707391;15710331;15735702;15743907;15761153;15775976;15798197;15831461;15870257;15961392;15974586;16123041;16137618;16159883;16163388;16217032;16280359;16306615;16330544;16344560;16414312;16501606;16511572;16581803;16619043;16629900;16649252;16652144;16705183;16732333;16783362;16828751;16873548;16880517;16885021;16912045;16927022;16951182;16963448;17003105;17015476;17035231;17102638;17106257;17157788;17210576;17274954;17276342;17290223;17292828;17296736;17370265;17380128;17408908;17464182;17468739;17491592;17544403;17611684;17638866;17684142;17686975;17716975;17726372;17879369;17912454;17962807;17986860;17991895;18029388;18071310;18088187;18159231;18229454;18239674;18243098;18247328;18270339;18317453;18331829;18339864;18346918;18424430;18434539;18448427;18451105;18469532;18480045;18495871;18550533;18566216;18614046;18632613;18642443;18671143;18676680;18698031;18723495;18820127;18950845;18983824;19060337;19064565;19064572;19091954;19119425;19124506;19170196;19177015;19242509;19270516;19275579;19276361;19330022;19401701;19453842;19473886;19477924;19487575;19546241;19570909;19584159;19593445;19615254;19625176;19628579;19690177;19692168;19694479;19714462;19716789;19743875;19778378;19808933;19828454;19837665;19838212;19843865;19861535;19903823;19931269;20029092;20053681;20068082;20090422;20123862;20146081;20159774;20233725;20360068;20453000;20495005;20496165;20508983;20514472;20562859;20567916;20581453;20599444;20609246;20616048;20639859;20644561;20716119;20719863;20731661;20805465;20932473;20940144;20969866;21034966;21051833;21118956;21139048;21145461;21154811;21171266;21173116;21179472;21212274;21301228;21383502;21389083;21401699;21440578;21502314;21532626;21557990;21566061;21615992;21628425;21680529;21752283;21803008;21832049;21845734;21858151;21890473;21906983;21907702;21921034;21988832;21995812;22044003;22080164;22106282;22134241;22159421;22184239;22203733;22231448;22357623;22401965;22433954;22435685;22469983;22505024;22505724;22529391;22553144;22556425;22585575;22621920;22692200;22743332;22855742;22863316;22939624;22939629;22942255;23000965;23068608;23085068;23109433;23255133;23269272;23321637;23383273;23383610;23447674;23447702;23454898;23533280;23536721;23600770;23720738;23733185;23748345;23798705;23799366;23844225;23932155;23954429;24002546;24098799;24113549;24117075;24158819;24158981;24163370;24197116;24244429;24327542;24336073;24441772;24464213;24634213;24639502;24747134;24778252;24816145;24823293;25024738;8889549;9278511;9278512;9382850;9765199 1111 B4DT73;E7EPP6;E9PJI4;E9PKQ3;E9PM65;E9PPA5;E9PQW7;E9PRU7;J3KN87;O14757 AA224205;AB032387;AB451222;AB451345;ABBA01031239;AF016582;AF032874;AF527555;AI750792;AK292549;AK293143;AK299783;AK300082;AMYH02025737;AP001132;AW149126;AY304548;BC004202;BC017575;BG191840;BG216281;BG218896;BG468734;BM455102;BP203333;BP207812;BX114781;BX419129;BX506561;CA441277;CA868104;CH471065;DA567616;JF289264;KF455559;NG_030049;NM_001114121;NM_001114122;NM_001244846;NM_001274;NR_045204;NR_045205;XM_006718759 AAB88852;AAC51736;AAH04202;AAH17575;AAM78553;AAQ76038;ABM83833;ABM87141;AEB71796;BAA84577;BAF85238;BAG56691;BAG61665;BAG61885;BAG70036;BAG70159;EAW67644;NP_001107593;NP_001107594;NP_001231775;NP_001265;O14757;XP_006718822 Hs.24529;Hs.595920 1662302;1675325;1684369;1724463;1849525;2107811;2117514;2128475;2140209;2141028;5037552 A006U05;ACRV1;ACRV1_8189;D11S2092;D8S2279;RH122396;RH17743;RH36540;RH66419;RH92593;WI-7841 CHK1;Chk1-S CHK1 checkpoint homolog;Checkpoint, S. pombe, homolog of, 1;OTTHUMP00000231300;OTTHUMP00000231301;OTTHUMP00000231306;OTTHUMP00000231307;OTTHUMP00000231309;cell cycle checkpoint kinase;checkpoint kinase-1;serine/threonine-protein kinase Chk1 APPROVED protein-coding ENSG00000149554 HGNC:1925 04356 603078 REVIEWED 737067 CHGB chromogranin B (secretogranin 1) This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides. [provided by RefSeq, Jan 2009] 20 20 20 p12.3 5963586 5977617 + 5891974 5906007 + 5911328 5925361 + 1580863;6480464;8554872 10391491;11780052;11854265;11931350;11959426;12091348;12133905;12165659;12438147;12477932;12692477;12826904;14506248;14997482;15138309;1518561;15219467;15489334;16169070;16199891;16807684;17143778;1769666;18180394;18721831;1882087;19913121;20007371;20011129;20359597;20431044;20628086;20888525;20932227;21046454;21046455;21832049;21852239;21900206;23361940;23423580;23816467;23939195;24244333;3608978;3678488;3970711;7891024;8125298;8889548;9199667;9588759 1114 P05060 AB209712;ABBA01053893;AK225125;AK289386;AK293536;AK312237;AL035461;AMYH02036652;BC000375;BM681923;BP422638;CH471133;CR456726;DC312240;NM_001819;Y00064 AAH00375;ABM82341;ABW03436;ACE86485;ACE87166;BAD92949;BAF82075;BAG35170;BAG57018;CAA68271;CAG33007;EAX10410;NP_001810;P05060 Hs.516874 1722325;1775118;2123504;2217150 CHGB_2985;D20S732;G60229;SGC30394 SCG1;cgB;sgI OTTHUMP00000030215;chromogranin-B;secretogranin B;secretogranin I;secretogranin-1 APPROVED protein-coding ENSG00000089199 HGNC:1930 07512 118920 REVIEWED 6904333 CHIAP1 chitinase, acidic pseudogene 1 1 1 1 110040628 110046332 + 111793634 111799338 + 111251012 111256716 + 100420342 ABBA01068396;AL513202;AMYH02001726;NG_027127 1764025 SHGC-147681 pseudo HGNC:44462 INFERRED 1314932 CHFR checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014] 12 12 12 q24.33 133115986 133164103 - 133416937 133481459 - 132840352 132887618 - 6480464 10935642;11807090;11912157;11948416;12121644;12376479;12477932;12538348;12810945;14562038;14612512;14638868;14654793;14694445;14695171;14702039;15201973;15302856;15342556;15467728;15489334;15674323;15760919;15793587;15937956;16169070;16554732;16751776;17201143;17442268;17596595;17673375;17786301;18079053;18172500;18335050;18504434;18592005;18623126;18763281;19182791;19321445;19448676;19469003;19549727;19584075;19634111;19787237;20082478;20109344;20300977;20388495;20473935;20564104;20734064;20880844;20942233;21302620;21409489;21551253;21575600;21706008;21768102;22070084;22159584;22285184;22337872;22469813;22493164;23131550;23241409;23386692;23415374;23454125;23873170;24674630 55743 F5GWH4;F5H375;F5H5P5;F5H829;J3KN56;Q96EP1;U3KPU9 ABBA01042541;ABBA01042542;ABBA01042543;ABBA01042544;AC127070;AF170724;AK001658;AK027687;AK054917;AK090948;AK097671;AK302785;AK304333;AL137561;AMYH02027596;BC012072;BP313700;CH471218;DQ599878;NG_033999;NM_001161344;NM_001161345;NM_001161346;NM_001161347;NM_018223 AAF91084;AAH12072;ABM83158;ABM86359;BAA91817;BAB55297;BAG53509;BAG63989;BAG65178;CAB70812;EAW54809;EAW54810;EAW54811;EAW54812;EAW54813;EAW54814;EAW54815;NP_001154816;NP_001154817;NP_001154818;NP_001154819;NP_060693;Q96EP1 Hs.720197 1675750;1688897;1694748;2110313 CHFR__4564;G43576;RH98685;RH98884 FLJ10796;FLJ33629;RNF116;RNF196 E3 ubiquitin-protein ligase CHFR;OTTHUMP00000237376;OTTHUMP00000237377;OTTHUMP00000237440;OTTHUMP00000237441;RING finger protein 196;checkpoint with forkhead and RING finger domains protein APPROVED protein-coding ENSG00000072609 HGNC:20455 605209 REVIEWED 6904273 CHIAP3 chitinase, acidic pseudogene 3 100996315 ABBA01068397;AL356387 pseudo HGNC:44464 MODEL 1350449 CHI3L2 chitinase 3-like 2 The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is secreted and is involved in cartilage biogenesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 1 1 1 p13.3 110017275 110033061 + 111770281 111786062 + 111227659 111243440 + 1580863;6480464;8554872 12435396;12477932;16341674;16502470;18029348;20379614;22190034;22211103;22505724;22742450;23291184;23558346;8125298;8702629 1117 E9PII8;E9PIX1;E9PP75;E9PPX4;E9PR52;E9PRL9;H0YD88;H0YE91;H0YEJ1;Q15782 ABBA01068396;AK223316;AK298466;AL513202;AMYH02001726;BC011460;BG698401;BM787868;BQ181849;BT006767;CH471122;KF454948;NM_001025197;NM_001025199;NM_004000;U49835;U58514;U58515 AAB04533;AAB04534;AAC50597;AAH11460;AAP35413;ABM84631;BAD97036;BAG60679;EAW56480;EAW56481;NP_001020368;NP_001020370;NP_003991;Q15782 Hs.514840 1693070;1778510;1857449 AL034262;SHGC-75289;SHGC-75295 CHIL2;YKL-39;YKL39 OTTHUMP00000014028;OTTHUMP00000233337;OTTHUMP00000233339;OTTHUMP00000233340;OTTHUMP00000233343;chitinase-3-like protein 2;chondrocyte protein 39 APPROVED protein-coding ENSG00000064886 HGNC:1933 03315 601526 REVIEWED 732419 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009] 1 1 1 q32.1 176277300 176285163 - 203148059 203155978 - 203178931 203186794 - 1580863;4892633;4892643;4892603;4892630;4892634;4892621;4892629;4892645;4892662;4892666;4892597;4892637;4892644;4892653;4892665;4892624;4892628;4892641;4892660;4892664;4892626;4892605;4892604;4892651;4893904;4892620;4892640;4892627;4892632;4892638;4892658;4892663;4892642;5024918;6480464;6907045;7240710;8554872 10073974;10461474;10515841;10616010;11161003;11752453;11986266;12124825;12598313;12883737;12889595;15541818;15763444;16195162;16361549;16372331;16456816;16930142;17023034;17627189;18003958;18054022;18480670;18685790;18703386;18957531;19414556;19568425;19961288;20558631;20564116;20656949;20888745;21143859 10772238;12069012;12071845;12435396;12477932;12759455;12775711;12799184;12851408;12933821;12957359;14555515;14702039;15489334;15569925;15788675;15829322;15867231;16234240;16344560;16502470;16818690;16955240;16960935;17020973;17160890;17236752;17543889;17545529;17565739;17599744;17631744;17712177;17957792;18092325;18157633;18182077;18190830;18217402;18280741;18281018;18403759;18490894;18570155;18615353;18650368;18708058;18723551;18767121;18802121;19003601;19070929;19089918;19106306;19197227;19200605;19255724;19264973;19308408;19421404;19536175;19550125;19644363;19666003;19694834;19701838;19765801;19767768;20012147;20047081;20051317;20056225;20099501;20174854;20224722;20226308;20237129;20300754;20347092;20356987;20424473;20499402;20506295;20538957;20540736;20640910;20650887;20674561;20800603;20840668;20926018;20943784;20961744;20972697;21029458;21159401;21159721;21257319;21258804;21272568;21385870;21391238;21478032;21496058;21530869;21642896;21714862;21715039;21782391;21820815;21831900;21858537;21934681;21949714;21953450;21968467;21978279;22036069;22056877;22074331;22095223;22103814;22140133;22146624;22183936;22209020;22209156;22211103;22281830;22351690;22366530;22433444;22480951;22525348;22534532;22554524;22572101;22583189;22628227;22642467;22647735;22655594;22809439;22937056;22955689;22986489;22989351;23071724;23149946;23170831;23190377;23197259;23226395;23227243;23272150;23279705;23291472;23294528;23364142;23397672;23490418;23525579;23551676;23562456;23573226;23591413;23613996;23628340;23665676;23671604;23706599;2375755;23792508;23874603;23918300;24062521;24256818;24309227;24324091;24405178;24512683;24582001;24650028;24685381;24730590;24861484;25056157;8125298;8245017;9244440;9417865;9492324 1116 H0Y3U8;P36222 AB209459;ABBA01027484;AC105940;AJ251847;AK095458;AK130142;AK130200;AK225266;AK225584;AK312911;AMYH02002511;BC008568;BC034684;BC038354;BC039132;BT007223;BX648308;CH471067;DA167112;M80927;NG_013056;NM_001276;Y08374;Y08378 AAA16074;AAH08568;AAH38354;AAH39132;AAP35887;ABM81703;ABM84863;ACE86529;ACE87208;BAD92696;BAG35757;BAG53058;CAA69661;CAB76472;EAW91467;EAW91468;NP_001267;P36222 Hs.382202;Hs.733359 2123621;2218378 CHI3L1_4566;SHGC-76167 ASRT7;CGP-39;DKFZp686N19119;FLJ38139;GP-39;GP39;HC-gp39;HCGP-3P;YKL-40;YKL40;YYL-40;hCGP-39 39 kDa synovial protein;OTTHUMP00000039087;cartilage glycoprotein 39;chitinase-3-like protein 1 APPROVED protein-coding ENSG00000133048 HGNC:1932 03314 181500;601525;611960 REVIEWED 730836 CHGA chromogranin A (parathyroid secretory protein 1) The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Two other peptides, catestatin and chromofungin, have antimicrobial activity and antifungal activity, respectively. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] 14 14 14 q32 73443584 73455777 + 93389445 93401638 + 92923100 92935293 + 1580863;6480464;6906907;6907055;6906902;6906900;6906901;6906903;6906897;6906898;6907050;8554872 10803489;11257446;18235090;20113265;20663522;20729505;20730520;21061160;2189303 11342539;12091348;12165659;12388744;12397377;12432071;12438141;12438152;12442257;12456801;12477932;12687271;12692477;12826904;14734634;14740315;14759560;14968443;14997482;15337252;15462496;15489334;15542860;15648545;1577173;15788643;15956083;16007257;16151967;16199891;16330879;16344560;16408221;16450720;16504480;16807684;17003646;17032650;17060047;17126478;17293489;17379958;17438105;17438153;17438154;17510497;17578828;17599769;17718510;17889508;17929277;17985422;17991725;18046660;18061980;18074379;18158567;18262756;18271679;18329114;18374882;18432188;18478008;18549247;18549351;18591442;18635750;18721831;18724010;18771509;18832606;18981630;19017515;19058139;19090560;19321999;19337629;19366853;19520754;19565071;19652998;19724850;19747727;19794299;19855234;19943077;20033364;20043075;20087896;20139771;20172008;20193177;20213742;20335134;20550951;20640434;20807312;20833163;20930149;20965217;21044118;21046450;21046454;21046455;21080056;21115933;21325453;21349414;21357258;21362443;21431800;21463431;21478104;21483253;21508845;21551321;21558123;2165909;21825034;21872447;21884005;21900206;21918574;21945155;21980038;21994954;22035982;22343505;22388654;22449227;22487376;22524436;22529895;22674297;22699394;22720672;23105094;23153859;23173843;23206950;23271036;23292839;23314748;23361940;23418554;23423580;23426642;23573890;23588348;23688154;23702300;23939195;23956349;24210828;24244333;24260544;24338022;24375395;24375481;2445752;2830133;3403545;3704195;3718511;3762065;3814131;7768066;8096340;8120054;8125298;8406464;8577930;8617499;8910482;9115255;9852066 1113 G3V2Q7;G5E968;P10645;Q86T07 ABBA01030443;ABBA01030444;AK223381;AK313757;AL117192;AMYH02029767;BC001059;BC006459;BC009384;BC012755;BT006869;BX248263;CH471061;DA201149;J03483;J03915;NM_001275;NM_001301690;U03742;U03746;U03747;U03749;XM_005267292;XM_006725160 AAA52017;AAA52018;AAB53685;AAH01059;AAH06459;AAH09384;AAH12755;AAP35515;ABM82746;ABM85933;BAD97101;BAG36496;CAD62591;EAW81505;EAW81506;NP_001266;NP_001288619;P10645;XP_005267349;XP_006725223 Hs.150793 1772724;1790323;1797086;2121193;2135751;2149174;5023489 CHGA;CHGA-1;RH11257;RH68966;STS-J03915;STS-W32275;hschga1 CGA;SP-I OTTHUMP00000245492;OTTHUMP00000245494;OTTHUMP00000245495;betagranin (N-terminal fragment of chromogranin A);catestatin;chromofungin;chromogranin-A;parathyroid secretory protein 1;pituitary secretory protein I APPROVED protein-coding ENSG00000100604 HGNC:1929 07170 118910 REVIEWED 1604020 CHIA chitinase, acidic The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 1 1 1 p13.2 110080467 110110137 + 111833474 111863188 + 111290852 111320566 + 4990463;4996473;4990459;5024919;5037227;5024927;5037226;5024922;5024921;4985150;4893904;6480464;6907045 14734765;15192232;16179638;16871939;17450126;18482441;18685790;19379605;19548841;20226308 10548734;11085997;12477932;12971947;15489334;16584180;17703412;18602573;18824549;19085022;19242357;19247692;19258923;19342690;19435888;19644363;20422678;20444155;20503287;20538957;20800603;21159721;21303604;21511453;21711963;22200767;23129258;24119614 27159 A8K3T7;E9PLJ2;H7BXH6;Q1M0P3;Q1M0P4;Q2VT96;Q5VUV5;Q9BZP6 AB025008;AB025009;ABBA01068396;AF290004;AK098814;AK290702;AL356387;AL513202;AMYH02001727;AY789444;AY789445;AY825504;AY911310;AY911311;BC036339;BC047336;BC106910;BC139901;BC139920;CH471122;NM_001040623;NM_001258001;NM_001258002;NM_001258003;NM_001258004;NM_001258005;NM_021797;NM_201653;XM_006710577 AAG60019;AAH36339;AAH47336;AAI06911;AAI39902;AAI39921;AAX54833;AAX81431;AAX81432;AAX81433;AAX81434;BAA86980;BAA86981;BAF83391;EAW56485;EAW56486;EAW56487;EAW56488;NP_001035713;NP_001244930;NP_001244931;NP_001244932;NP_001244933;NP_001244934;NP_068569;NP_970615;Q9BZP6;XP_006710640 Hs.128814 1775036;2217152 AL009809;CHIA_2695 CHIT2;DKFZp313J1722;TSA1902 OTTHUMP00000012864;OTTHUMP00000012865;OTTHUMP00000012866;OTTHUMP00000233469;OTTHUMP00000233472;acidic mammalian chitinase;amcase;lung-specific protein TSA1902 APPROVED protein-coding ENSG00000134216 HGNC:17432 09355 606080 REVIEWED 1606703 CHIAP2 chitinase, acidic pseudogene 2 INTERACTS WITH copper(2+) sulfate 1 1 1 p13.2 110070129 110075713 + 111823146 111828730 + 111280524 111286108 + 6480464 12477932;17720922;19442228 149620 ABBA01068396;AL513202;AMYH02001727;BC031662;CH471122;NR_003928 EAW56483;EAW56484 Hs.736960 RP11-165H20.1 APPROVED pseudo ENSG00000203878 HGNC:44463 12595 PROVISIONAL 1349014 CHIC1 cysteine-rich hydrophobic domain 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic vesicle (inferred); plasma membrane (inferred); INTERACTS WITH clorgyline; copper atom; copper(0) X X X q13.2 73066460 73190414 + 72782984 72906937 + 73563148 73687102 + 6480464;8554872 11257495;12477932;15489334;15772651;21139048;21890473;21906983;21987572;23000965;9321471 53344 B7Z4S5;Q5VXU3;R4GN46 ABBA01059653;ABBA01059654;ABBA01059655;ABBA01059656;ABBA01059657;ABBA01059658;ABBA01059659;ABBA01059660;ABBA01059661;ABBA01059662;ABBA01059663;AK057786;AK295903;AK297768;AL356513;AL358796;AL832095;AMYH02039771;BC050300;BC127727;BC127728;BC136691;BC136692;CH471104;CR627010;CR936642;DC382882;KF510685;NM_001039840;NM_001300884;XM_005262276;Y11897 AAI27728;AAI27729;AAI36692;AAI36693;BAH12217;BAH12661;CAI56782;EAW98663;NP_001034929;NP_001287813;Q5VXU3;XP_005262333 Hs.496323 1655499;1694794;1697000;1722375 G43618;G60259;RH101974;RH47603 BRX;DKFZp313P1931;DKFZp686F2342 OTTHUMP00000023567;OTTHUMP00000023568;brain X-linked protein;cystein-rich hydrophobic domain 1;cysteine-rich hydrophobic domain 1 protein;cysteine-rich hydrophobic domain-containing protein 1 protein-coding ENSG00000204116 HGNC:1934 300922 VALIDATED 1313797 CHIT1 chitinase 1 (chitotriosidase) Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012] 1 1 1 q32.1 176314462 176328121 - 203185207 203198860 - 203216079 203229732 - 1580863;6480464;6907045;7240710;8554872 11960986;12221666;12477932;12482412;12893688;14551607;14702039;15218258;15342556;15489334;15702402;16107886;16110781;16712652;16848812;17075695;17106626;17136386;17290100;17291472;17460177;17464953;17693102;17765019;17916351;17976376;18054022;18068392;18069420;18190830;18324378;18355455;18609101;18845328;19242357;19347743;19415692;19536175;19644363;19725875;19808030;19881466;19913121;19925532;19958755;20178893;20226308;20331735;20422678;20538957;20580583;20628086;20797781;20800603;20819891;21159721;21640089;21674664;21711963;22014002;22132778;22183425;22192075;22200767;22206738;22718099;22770630;22826322;22878841;22986554;23129258;23149946;23234739;23331560;23359515;23525479;23692992;23706714;23744081;23844836;24036453;24060732;24462685;7592832;7836450;8125298;9402970;9492324;9748235 1118 D6REY1;Q13231 ABBA01027484;AC105940;AI697695;AK055165;AK131093;AK225245;AK309341;AK314331;AMYH02002512;BC069614;BC103695;BC105680;BC105681;BC105682;BP297140;BP304256;BQ029424;BX096812;BX099272;CH471067;NG_012867;NM_001256125;NM_001270509;NM_003465;NR_045784;NR_045785;U29615;U62662 AAC50246;AAG10644;AAH69614;AAI03696;AAI05681;AAI05682;AAI05683;BAC85143;BAG51478;EAW91469;EAW91470;EAW91471;NP_001243054;NP_001257438;NP_003456;Q13231 Hs.201688 1645978;1685500;1781704;2159264;2217154;5014053 CHIT1_2836;D1S3693;G29124;RH81001;SHGC-155193;SHGC-76163 CHI3;CHIT;CHITD;FLJ00314;MGC125322 OTTHUMP00000039092;OTTHUMP00000217083;OTTHUMP00000217084;OTTHUMP00000217085;chitinase-1;chitotriosidase-1;plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase APPROVED protein-coding ENSG00000133063 HGNC:1936 02494 600031 REVIEWED 1604307 CHID1 chitinase domain containing 1 ENCODES a protein that exhibits oligosaccharide binding; INVOLVED IN negative regulation of cytokine production involved in inflammatory response; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; extracellular vesicular exosome; late endosome; INTERACTS WITH dexamethasone; 3,4-methylenedioxymethamphetamine (ortholog); dibutyl phthalate (ortholog) 11 11 11 p15.5 934938 982508 - 867859 915058 - 867859 915058 - 6480464;8554872 12477932;14702039;15489334;16303743;16344560;16357325;17207965;19199708;19275751;19946888;20379614;20724479;21832049;21906983;21963094;23558346;24470346;24654937;8125298 66005 E9PI70;E9PIP0;E9PJ91;E9PJL0;E9PKF1;E9PPA0;E9PPH0;E9PQZ0;E9PRL3;H0YC89;H0YCC4;H0YDL6;H0YEA3;Q9BWS9 ABBA01015214;ABBA01015215;AF212229;AK027711;AK075413;AK124697;AK225025;AK225398;AK297743;AK301245;AMYH02024154;AMYH02024155;AP006623;AX058604;AY037151;BC000001;BC013642;BC095409;BI759317;BI818660;BI821281;BN000479;CH471158;CK904484;CQ893561;CS051217;DA983719;FB746685;KF459536;NM_001142674;NM_001142675;NM_001142676;NM_001142677;NM_023947;XM_005253072;XM_005253073;XM_006718281;XM_006718282 AAH00001;AAH13642;AAH95409;AAK14915;AAK67632;ADQ32365;BAB55316;BAC11603;BAG54072;BAG60093;BAH13441;CAC22517;CAF32458;CAH68702;CAI72104;CAV31088;EAX02413;EAX02414;EAX02415;NP_001136146;NP_001136147;NP_001136148;NP_001136149;NP_076436;Q9BWS9;XP_005253129;XP_005253130;XP_006718344;XP_006718345 Hs.144468 1667707;1764577;1772168;2124048;2159421;2176188;5037552 D8S2279;RH12084;RH47630;RH65976;RH69933;SHGC-148169;WI-18565 FLJ42707;GL008;MGC3234;SI-CLP;SICLP OTTHUMP00000164438;OTTHUMP00000230013;OTTHUMP00000230014;OTTHUMP00000230015;chitinase domain-containing protein 1;stabilin-1 interacting chitinase-like protein;stabilin-1-interacting chitinase-like protein protein-coding ENSG00000177830 HGNC:28474 14550 615692 VALIDATED 1604072 CHKA choline kinase alpha The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 65154000 65222386 - 67820326 67888858 - 68052859 68121391 - 6480464;6907045 10363580;11840339;12062430;12082619;12176020;12477932;14702039;15003397;15489334;1618328;16820874;17184542;18172309;18296102;18654987;19156696;19270695;19448670;19737740;19855431;19915674;20042122;20299452;20662904;208357;21048031;21163940;21822308;21832049;21890473;22017875;22038995;22515519;22972156;23071593;23416529;23762272;23775813;24281000;24287694;24583375;36885;8069533;9038210;9113621 1119 E9PM06;H0YD02;P35790 ABBA01024016;ABBA01024017;ABBA01024018;ABBA01024019;AI809679;AK054792;AK092643;AL834403;AMYH02025001;AMYH02025002;AMYH02025003;AMYH02025004;AMYH02025005;AMYH02025006;AP002807;AP002992;BC036471;BE260889;BG703955;BG723115;BI195927;BU617910;CH471076;D10704;NM_001277;NM_212469;XR_428904;XR_428905;XR_428906;XR_428907 AAH36471;BAA01547;EAW74694;EAW74695;EAW74696;NP_001268;NP_997634;P35790 Hs.77221 1298330;1643858;1687778;1738031;1770730;2107927;2122154;2159070;5015619;5015861;5015961;5020881;5021872;5022450;5022651;5024761;5037552;7185938 CHKA_8254;D10S16;D10S275;D11S2921;D11S3114;D11S3651;D11S4327;D11S987;D15S1477;D8S2279;L17709;RH36905;RH47025;RH94200;STS-H94874;WI-17872;sY3084 CHK;CK;CKI;EK CHETK-alpha;OTTHUMP00000235913;OTTHUMP00000235915;ethanolamine kinase APPROVED protein-coding ENSG00000110721 HGNC:1937 00327 118491 REVIEWED 7254767 CHKB-AS1 CHKB antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 22 22 22 q13.33 34897488 34898389 + 51021455 51022356 + 50583026 50583927 + 8554872 15461802 100144603 ABBA01042624;AMYH02038619;BE393070;BI561134;BJ989458;CR456603;CR980518;HG512396;NR_021492;NR_110536;U62317;XR_244461;XR_244462;XR_249062;XR_254114;XR_254115;XR_425349;XR_425350;XR_430485;XR_433736 CAG30489 Hs.657275 2144462 STS-T55238 ncrna ENSG00000205559 HGNC:40146 VALIDATED 1604071 CHKB choline kinase beta Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009] 22 22 22 q13.33 34893420 34897461 - 51017387 51021428 - 50578958 50582999 - 6480464;6483361;6483443;6483442;6483363;6907045;8699517;7240710;8554872 18820697;19404393;21665002;21750112 10706593;10918069;11258795;12477932;14702039;15003397;15174051;15461802;15489334;16344560;18029348;18996102;19913121;19915674;20299452;20301468;20602615;20628086;20651826;20716336;22177342;23692895;23945283;24250222;9370318;9487136 1120 Q9Y259 AB003286;AB029885;AB029886;ABBA01042624;AK097775;AK314324;AL096780;AL096781;AMYH02038619;BC024286;BC037162;BC050443;BC056404;BC082263;BC101488;BC113521;BE676287;CH471138;CR456419;DB106393;NG_012643;NG_029213;NM_005198;U62317 AAB03342;AAH82263;AAI01489;AAI13522;ADR82980;BAA21491;BAA82511;BAA82512;BAG36972;CAB46629;CAB46630;CAG30305;CAK54411;CAK54710;EAW73573;EAW73574;EAW73575;NP_005189;Q9Y259 Hs.654827 2107005;2144462;2191233;2191657 CPT1B_7768;MARC_16689-16690:1017862088:1;MARC_4143-4144:996679424:1;STS-T55238 CHETK;CHKL;CK;CKB;CKEKB;EK;EKB;MDCMC OTTHUMP00000196839;choline kinase-like protein;choline/ethanolamine kinase;choline/ethanolamine kinase beta;ethanolamine kinase beta APPROVED protein-coding ENSG00000100288 HGNC:1938 07631 602541;612395 REVIEWED 1319536 CHIC2 cysteine-rich hydrophobic domain 2 This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008] 4 4 4 q11 52375088 52430482 - 54874540 54931562 - 54007288 54065378 - 1580863;6480464;7240710 10477709;11257495;12477932;12842979;15489334;16189514;16344560;19060904;19118897;19322201;21139048;21890473;21906983;21909110;21963094;21987572;22053931;22505724;22558309;23000965 26511 D6RDW7;H0Y8H1;Q9UKJ5 ABBA01003396;ABBA01003397;AC110792;AF159423;AK312427;AMYH02009225;AMYH02009226;BC034691;BI828538;CH471057;DA746525;NG_028924;NM_012110;XM_005265738;XM_006714037 AAD55981;AAH34691;ABM81637;ABM84819;BAG35336;EAX05453;NP_036242;Q9UKJ5;XP_005265795;XP_006714100 Hs.335393 2109137 CHIC2_9491 BTL;MGC21173 BRX-like translocated in leukemia;OTTHUMP00000128296;OTTHUMP00000218650;OTTHUMP00000218651;OTTHUMP00000218652;cystein-rich hydrophobic domain 2;cysteine-rich hydrophobic domain 2 protein;cysteine-rich hydrophobic domain-containing protein 2 APPROVED protein-coding ENSG00000109220 HGNC:1935 10373 601626;604332 REVIEWED 5132985 CHKB-CPT1B CHKB-CPT1B readthrough (NMD candidate) The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009] 22 22 22 q13.33 34883323 34897461 - 51007290 51021428 - 50568861 50582999 - 6480464;8554872 10493829;10918069;11258795;12477932;18820697;20967262;8889548 386593 H3BT56 AB051457;ABBA01042624;AK301477;AMYH02038619;BC131570;CA312186;NG_012643;NR_027928;U62317 AAI31571;BAB33340;BAH13492 Hs.439777 1684156;1747343;2107005;2129706;2144462;2168853;2168855;2178120;2191233;2191657 A005A09;CPT1B_7768;D22S970E;D22S975E;G20256;G65458;MARC_16689-16690:1017862088:1;MARC_4143-4144:996679424:1;SHGC-34107;STS-T55238 CHKL-CPT1B;FLJ56256;KIAA1670;MGC149140 APPROVED ncrna ENSG00000254413 HGNC:41998 VALIDATED 8552135 CHL1-AS1 CHL1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 3 3 405056 427478 - 363373 385795 - 8554872 12477932 101927193 ABBA01020508;AC011609;AMYH02006133;BC029457;BC065754;HG495386;NR_110739;XR_245173;XR_249351;XR_251312 Hs.677744 ncrna ENSG00000234661 HGNC:40148 VALIDATED 1346370 CHL1 cell adhesion molecule L1-like The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011] 3 3 3 p26.1 184048 396327 + 238279 451100 + 196588 409417 + 1358505;1580863;6480464;6483040;6483045;8554872 11986985;21337374;21452236 10508992;12477932;14702039;15489334;15653271;15704102;16335952;16344560;16597699;17592550;19064572;19509545;20298200;20339536;20379614;20634891;21216876;21332311;21408220;21658281;21860410;22041458;22219177;22581228;22634495;22744455;22909203;22988240;23251661;23857787;23906755;24203666;24324551;24512353;24971532;9799093 10752 C9J905;C9JEY3;C9JH37;C9JW79;F8WEP4;H7C0J0;O00533 AB209329;ABBA01020508;ABBA01020509;ABBA01020510;ABBA01020511;AC011609;AC026187;AC066595;AF002246;AK055236;AK126878;AL359583;AMYH02006131;AMYH02006132;AMYH02006133;BC104918;BC143496;BC143498;BF056756;CH471055;CR749682;DA778898;NM_001253387;NM_001253388;NM_006614;NR_045572;R40400;XM_006712938;XM_006712939;XM_006712940;XM_006712941 AAB60937;AAI04919;AAI43497;BAD92566;BAG54387;EAW63868;EAW63869;NP_001240316;NP_001240317;NP_006605;O00533;XP_006713001;XP_006713002;XP_006713003;XP_006713004 Hs.148909;Hs.731409 1337045;1662584;1665376;1672194;1672196;1715745;1733522;1735330;1735344;1739891;2110893;2130675;2163252;2163708;5119106 D3S1343E;D3S2359;D3S2955E;D3S2964E;D3S3190;D3S3491;D3S3938;D3S4559;RH119319;SHGC-76658;SHGC-76660;STS-H05873;WI-13429;WI-18532;WI-5378 CALL;DKFZp547L174;FLJ30674;FLJ44930;L1CAM2;MGC132578 L1 cell adhesion molecule 2;OTTHUMP00000115720;OTTHUMP00000206816;cell adhesion molecule with homology to L1CAM (close homolog of L1);cell adhesion molecule with homology to L1CAM (close homologue of L1);close homolog of L1;neural cell adhesion molecule L1-like protein APPROVED protein-coding ENSG00000134121 HGNC:1939 07598 607416 REVIEWED 5144382 CHL1-AS2 CHL1 antisense RNA 2 INTERACTS WITH valproic acid 3 3 p26.3 182839 184488 - 237441 239090 - 6480464 21216876 642891 XM_003960326;XM_931148 XP_003960375;XP_936241 Hs.570612 CHL1 antisense RNA 2 (non-protein coding) APPROVED protein-coding HGNC:40147 4892546 CHMP1AP1 charged multivesicular body protein 1A pseudogene 1 1 1 1 p35.3 26408964 26409595 - 28013320 28013951 - 27686809 27687440 - 646597 ABBA01034985;AL445490;AMYH02000605;NG_007362 APPROVED pseudo HGNC:39514 VALIDATED 1603626 CHMP1B charged multivesicular body protein 1B CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] 18 18 18 p11.21 11729892 11732949 + 11851389 11854448 + 11851390 11854449 + 6480464;6907045 11474171;11559747;11559748;12477932;14505569;14505570;14519844;15489334;15537668;16094257;16174732;16730941;16760479;17207965;17711858;17928862;18997780;19056867;19129479;19129480;19302785;19322201;19328558;19477918;19727025;20719964;20972266;21139048;21394083;21494275;21616915;21674799;21762796;21762798;21890473;21906983;21988832;22505724;22754649;23000965;24816145 57132 Q7LBR1 ABBA01074001;AF281064;AF306520;AK314068;AMYH02034318;AP005137;BC012733;BC065933;BX494191;CH471113;NG_033866;NM_020412 AAG01449;AAH12733;AAH65933;AAL48200;ADQ33194;BAG36769;EAX01575;NP_065145;Q7LBR1 Hs.656244 1701634;5014019;5020948 D5S2354;G35510;RH104461 C10orf2;C18-ORF2;C18orf2;CHMP1.5;Vps46-2;Vps46B;hVps46-2 OTTHUMP00000231067;chromatin modifying protein 1B;chromatin-modifying protein 1b;vacuolar protein sorting 46-2;vacuolar protein sorting-associated protein 46-2 APPROVED protein-coding ENSG00000255112 HGNC:24287 12106 606486 VALIDATED 1346526 CHMP1A charged multivesicular body protein 1A This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 16 16 16 q24.3 74775335 74788601 - 89710839 89724193 - 89644431 89657785 - 6480464;8699517;7240710;8554872 11559747;11559748;12445808;12477932;14505569;14505570;14519844;15489334;15604093;16730941;16760479;17353931;17711858;17928862;18787405;19056867;19129479;19302785;19640981;21139048;21674799;21705858;21890473;21988832;22053931;22261332;22505724;22939629;23000965;23023333;23273016;23456168;23748770;24250222;7584044;8863740;8889548;9837962 5119 F5H875;F8VUA2;F8VVT7;Q9HD42 ABBA01014138;ABBA01014139;ABBA01014140;AC010538;AF281063;AI356110;AI362697;AK302055;AMYH02032679;BC007527;BC010000;BC132711;BC132713;BG480548;BI826757;BT006841;BX363674;CF131483;CH471184;D38554;HY008690;HY089525;NG_033005;NM_001083314;NM_002768;NR_046418;U58048 AAC50775;AAG01448;AAH10000;AAI32712;AAI32714;AAP35487;ADR82857;BAA07557;BAG63445;EAW66715;EAW66716;EAW66717;NP_001076783;NP_002759;Q9HD42 Hs.589427 1656454;1667327;2181374 RH17441;RH66573;SHGC-61043 CHMP1;KIAA0047;PCH8;PCOLN3;PRSM1;VPS46-1;Vps46A OTTHUMP00000241410;OTTHUMP00000241411;OTTHUMP00000241412;OTTHUMP00000241413;charged multivesicular body protein 1/chromatin modifying protein 1;chromatin modifying protein 1A;chromatin-modifying protein 1a;hVps46-1;procollagen (type III) N-endopeptidase;protease, metallo, 1, 33kD;vacuolar protein sorting-associated protein 46-1 APPROVED protein-coding ENSG00000131165 HGNC:8740 01237 164010;614961 REVIEWED 1603659 CHMP2A charged multivesicular body protein 2A CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] 19 19 19 q 56106112 56109665 - 59062933 59066495 - 58551566 58555128 - 6480464;6907045 11031247;11559748;12477932;12665801;14505569;14505570;14519844;14702039;15146197;15173323;15342556;15489334;16565220;16730941;16760479;17159328;17928862;18687924;19056867;19129480;19302785;19460752;19525971;19946888;20708039;20972266;21139048;21543490;21890473;21906983;21988832;22505724;22623428;22939629;23000965;23027949;23051622;24107264;24250222;24436186;24816145 27243 M0QXX8;M0R1L7;M0R1T5;O43633 ABBA01020760;AC016630;AF042384;AJ277113;AK092868;AK311974;AMYH02036539;AY364248;BC002502;BC047005;BE856471;BG546479;BI457978;BP315111;BT007298;BU147101;CH471135;CN305066;CR457002;NM_014453;NM_198426;XM_005258746;XM_005258747 AAC00005;AAH02502;AAP35962;AAQ76807;ABM83513;ABM86731;BAG34913;CAC14310;CAG33283;EAW72608;EAW72609;EAW72610;EAW72611;NP_055268;NP_940818;O43633;XP_005258803;XP_005258804 Hs.12107 1669490;2110787;2161574;2191771;5015404;5015619;5020740;5024413 D11S3114;L17705;L17809;L17877;MARC_7283-7284:996687724:1;SHGC-30173;STS-N23430;UBE2M_7933 BC-2;BC2;CHMP2;VPS2;VPS2A;hVps2-1;vps2-1 VPS2 homolog A;chromatin modifying protein 2A;chromatin-modifying protein 2a;putative breast adenocarcinoma marker (32kD);putative breast adenocarcinoma marker BC-2;vacuolar protein sorting-associated protein 2-1 APPROVED protein-coding ENSG00000130724 HGNC:30216 12520 610893 VALIDATED 732475 CHM choroideremia (Rab escort protein 1) This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009] X X X q21.2 85355767 85542165 - 85116185 85302566 - 85861180 86047562 - 1580863;704404;704419;6480464;7240710;8554872;8699517 8513495 10022613;11141079;11297488;11886217;12477932;12535645;12576024;12620235;12827496;1302003;1373238;14566650;14702039;15186776;15242790;15465555;1549574;15579993;15772651;1598901;16087855;16936131;17698759;18029348;18087237;18385043;18487380;18532927;18773267;1904992;19376587;19422966;19427510;19597113;19764077;20027300;20301511;21905166;21939745;21990357;22025891;2215697;2220804;22355242;22965595;23273018;23940504;24672218;24816145;7951216;7957092;7981670;8294464;8380507;8477262;9067750;9437002;9563513 1121 B4DRL9;P24386 ABBA01051724;ABBA01051725;ABBA01051726;ABBA01051727;ABBA01051728;ABBA01051729;ABBA01051730;ABBA01051731;ABBA01051732;ABBA01051733;ABBA01051734;ABBA01051735;ABBA01051736;ABBA01051737;ABBA01051738;ABBA01051739;ABBA01051740;ABBA01051741;ABBA01051742;ABBA01051743;AK095883;AK291160;AK299323;AK312443;AL009175;AL022401;AL035451;AL138748;AMYH02039895;AMYH02039896;AMYH02039897;AMYH02039898;AY255796;BC032237;BC063522;BC065702;BC073987;BC105969;BC130494;BC130496;CH471104;FB775572;KF459204;KF510693;M83773;NG_009874;NM_000390;NM_001145414;S37423;X57637;X78121;XM_006724615 AAA61032;AAD13814;AAH65702;AAH73987;AAI05970;AAI30495;AAI30497;AAI56458;AAI72532;AAP15253;BAC04640;BAF83849;BAG61331;CAA40855;CAA55011;CAV30743;EAW98559;NP_000381;NP_001138886;P24386;XP_006724678 Hs.496449 1669896;1701918;1702512;1715701;1743143;1743145;1744397;1745775;1745777;1745779;1745781;1745783;1745785;1745787;1770926;1793432;2109139;2120566;2137057;2161439;5016031;5016851;5017170;5117124 CHM;CHM_8255;DXS8326;GDB:271316;GDB:271320;GDB:437724;GDB:452659;GDB:636299;GDB:636308;GDB:636311;GDB:636322;GDB:636328;GDB:636338;GDB:636342;GDB:636348;GDB:636379;L29953;PMC22091P1;RH112;RH119297;RH46170;RH80031;STS-M83773;WI-11849 DXS540;FLJ38564;GGTA;HSD-32;MGC102710;REP-1;TCD OTTHUMP00000023628;OTTHUMP00000023629;Rab geranylgeranyltransferase component A;choroideraemia protein;choroideremia protein;rab escort protein 1;rab proteins geranylgeranyltransferase component A 1 APPROVED protein-coding ENSG00000188419 HGNC:1940 02312;06563 118200;145900;180800;300390;303100;605253;607677;607736;607791 REVIEWED 1313260 CHML choroideremia-like (Rab escort protein 2) The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008] 1 1 1 q43 215047269 215054335 - 241792166 241799232 - 241628864 241635930 - 1580863;5133238;6480464;8554872 18343558 11056004;12242008;12356470;12477932;12535645;1301160;14702039;15146197;15186776;15489334;16341674;16344560;16710414;16712791;18344558;19626040;23000965;24816145;7592656;7981670;8188272;8294464;9730828 1122 P26374 ABBA01033253;AF482426;AK000933;AK023423;AK314125;AL133390;AMYH02003038;BC117360;BG108374;BI088411;BM457359;BM470658;BM557064;BM763291;BM806625;BQ775652;BU187416;BU195066;CB160778;CH471098;CN415289;DA612361;NM_001821;X64728 AAI17361;AAO15716;BAG36816;CAA45979;EAW70100;NP_001812;P26374 Hs.654545 1687339;1752805;1772178;2130904;2185614 RH99149;SHGC-106687;SHGC-12642;SHGC-76595;SHGC-76599 FLJ10071;FLJ13361;REP2 OTTHUMP00000037644;REP-2, Rab escort protein 2;choroideraemia-like protein;choroideremia-like protein;rab escort protein 2;rab proteins geranylgeranyltransferase component A 2 APPROVED protein-coding ENSG00000203668 HGNC:1941 00341 118825 REVIEWED 7400219 CHMP1B2P charged multivesicular body protein 1B2, pseudogene X X q21.1 79538067 79565684 - 80228489 80335318 - 6480464 101060146 ABBA01049091;ABBA01049092;ABBA01049093;ABBA01049094;ABBA01049095;ABBA01049096;AK130351;AL158140;AL591431;AMYH02039840;CR627394;NR_110646;XR_426533;XR_426534;XR_430525;XR_430526;XR_433760;XR_433761 Hs.546064 pseudo ENSG00000278530 HGNC:49380 VALIDATED 6480300 CHMP4BP1 charged multivesicular body protein 4B pseudogene 1 INVOLVED IN protein transport (inferred) 14 14 14 q22.3 35814803 35815697 + 55765320 55766214 + 55298602 55299496 + 17974005 100307126 P59074 ABBA01018205;AL158801;AMYH02029235;NG_013059 P59074 pseudo HGNC:43616 INFERRED 1351348 CHMP3 charged multivesicular body protein 3 This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010] 2 2 2 p11.2 86558596 86618513 - 86730553 86790620 - 86503430 86563497 - 1299526;4892619;6480464 12878588;19535733 10810093;11031247;11549700;12194857;12477932;12775420;14505569;14505570;14519844;14702039;15231748;15489334;15632132;15707591;15815621;16302002;16344560;16431367;16554368;16730941;16760479;17081983;17146056;17159328;17261583;17331679;17686835;17711858;18395747;18654987;18687924;19056867;19525971;19615732;20427536;20805225;21139048;21543490;21674799;21827950;21832049;22797925;23027949;23051622;24250222;24440309 51652 Q9Y3E7 ABBA01075783;ABBA01075784;AC015971;AC068288;AF151907;AF219226;AK025046;AK025260;AK095433;AK129502;AK290725;AK312353;AK315835;AMYH02004195;AY364249;BC004419;BG705423;BI562428;BU192410;CH471053;DA046087;DA290886;NM_001005753;NM_001193517;NM_016079;NR_036454 AAD34144;AAF26737;AAH04419;AAQ76808;AAX93078;AAY24211;ABZ92336;BAF83414;BAF98726;BAG35273;EAW99448;EAW99449;EAW99450;EAW99451;EAW99452;NP_001005753;NP_001180446;NP_057163;Q9Y3E7 Hs.591582 1739023;2125981;2139720;2179852 D2S1879;RH69455;RH78340;SGC31339 CGI-149;FLJ38114;NEDF;VPS24;hVps24 25.1 protein;CHMP family, member 3;OTTHUMP00000203324;OTTHUMP00000203325;OTTHUMP00000203326;chromatin-modifying protein 3;neuroendocrine differentiation factor;vacuolar protein sorting 24 (yeast);vacuolar protein sorting 24 homolog;vacuolar protein sorting-associated protein 24 APPROVED protein-coding ENSG00000115561 HGNC:29865 15650 610052 REVIEWED 1606234 CHMP6 charged multivesicular body protein 6 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012] 17 17 17 q25.3 75596098 75601620 + 78965641 78973933 + 80991841 81000133 + 6480464;6907045 11031247;11559748;12477932;14505569;14505570;14519844;14583093;14702039;15342556;15489334;15511219;16371348;16730941;16973552;17207965;17353931;18606141;18723511;19056867;19270365;19686684;19946888;21762798;22231449;23000965;24816145;8125298 79643 I3L3E4;I3L4A1;I3L4G8;Q96FZ7 ABBA01032123;AC127496;AK021811;AK223187;AK292105;AMYH02034117;AY329087;BC010108;BP196406;CH471099;CR457284;NM_024591;XM_005257668 AAH10108;AAQ91196;ADQ33148;BAB13901;BAD96907;BAF84794;CAG33565;EAW89622;NP_078867;Q96FZ7;XP_005257725 Hs.514560 1658115;5019132 GDB:313216;RH102270 FLJ11749;VPS20;hVps20 chromatin modifying protein 6;chromatin-modifying protein 6;vacuolar protein sorting-associated protein 20 APPROVED protein-coding ENSG00000176108 HGNC:25675 08564 610901 VALIDATED 1320409 CHMP4B charged multivesicular body protein 4B This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009] 20 20 20 q11.22 29151820 29194895 + 32399110 32442173 + 33811304 33854367 + 6480464;6907045;7240710;8554872;8699517 11031247;11780052;12477932;12860994;14505569;14505570;14519844;14583093;14678797;15007060;15489334;15511219;16189514;16730941;17174262;17428861;17701905;17711858;18190528;18209100;18511562;19016654;19056867;19403673;19738201;20360068;20929444;21139048;21264300;21394083;21494275;21674799;21890473;21906983;21975012;22258254;22406677;22505724;22623428;22939629;23000965;23027949;23362303;23895345;24107264;24436186;24816145 128866 Q9H444 AB100261;ABBA01019216;ABBA01019217;AL050349;AMYH02036961;AMYH02036962;AY329085;AY726594;BC033859;BQ926070;BU150721;CH471077;CT001913;NG_015820;NM_176812 AAH33859;AAQ91194;BAC79375;EAW76293;EAW76294;NP_789782;Q9H444 Hs.472471 1653758;2114834 STS-AA029286;WI-21040 C20orf178;CHMP4A;CTPP3;CTRCT31;SNF7;SNF7-2;Shax1;VPS32B;Vps32-2;dJ553F4.4 OTTHUMP00000030668;SNF7 homolog associated with Alix 1;Snf7 homologue associated with Alix 1;chromatin modifying protein 4B;chromatin-modifying protein 4b;chromosome 20 open reading frame 178;hSnf7-2;hVps32-2;vacuolar protein sorting-associated protein 32-2;vacuolar protein-sorting-associated protein 32-2 APPROVED protein-coding ENSG00000101421 HGNC:16171 16642 605387;610897 REVIEWED 1314312 CHMP5 charged multivesicular body protein 5 CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] 9 9 9 p13.3 33195015 33211653 + 33264877 33282067 + 33264879 33282069 + 6480464;6907045 10810093;11031247;11042152;11559748;12477932;14505569;14505570;14519844;15164053;15489334;15644320;16009940;16189514;16730941;17261583;17353931;17708794;17711858;17855796;18426649;19056867;20164219;20932654;21139048;21543490;21674799;21890473;21906983;21988832;22082156;22863883;22939629;23000965;23619569;24250222;24816145 51510 Q9NZZ3 ABBA01065064;AF132968;AF161525;AF229832;AF275810;AI128062;AK024753;AK295744;AK315455;AL356472;AMYH02019417;BC006974;BC007457;BC016698;BC018603;BC020796;BC021168;CH471071;NM_001195536;NM_016410 AAD27743;AAF29140;AAF42917;AAG23821;AAH06974;AAH07457;AAH16698;AAH20796;AAH21168;ABM84105;ABM87478;ABM87479;BAG37842;BAG58578;EAW58512;EAW58513;NP_001182465;NP_057494;Q9NZZ3 Hs.635313 1687664;1796024 HSPC177__1182;RH47308 C9orf83;CGI-34;HSPC177;PNAS-2;SNF7DC2;Vps60;hVps60 OTTHUMP00000021197;SNF7 domain containing 2;SNF7 domain-containing protein 2;apoptosis-related protein PNAS-2;chromatin modifying protein 5;chromatin-modifying protein 5;chromosome 9 open reading frame 83;vacuolar protein sorting-associated protein 60 APPROVED protein-coding ENSG00000086065 HGNC:26942 15408 610900 VALIDATED 1603668 CHMP2B charged multivesicular body protein 2B This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008] 3 3 3 p11.2 88029539 88057175 + 87276413 87304698 + 87227263 87255548 + 4892619;5688398;5688716;5688397;5688721;5688711;5688712;6480464;6907045;7240710;8554872;8699517 16041373;16807408;16979267;19202337;19535733;20412296;22366797 10436350;10810093;11031247;11230166;11256614;11559748;12477932;14505569;14505570;14519844;14702039;15223008;15489334;16169070;16189514;16341674;16344560;16431024;16565220;16730941;16941655;16964243;17353931;17928862;17956895;18029348;18270236;19056867;19091059;19150442;19179627;19302785;19706893;20223751;20301378;20301623;20352044;20420883;20472325;20625756;20699355;21044950;21139048;21222599;21674799;21926173;22521643;22674379;22786763;22947304;22989140;23142962;24095276;24107264;24250222;24440309;24816145;8125298;8541850;8889548 25978 B2RE76;C9J0A7;Q9UQN3 ABBA01004629;AC123511;AC130885;AF151842;AK002165;AK002180;AK222654;AK296072;AK316585;AL080122;AMYH02007210;BC001553;BI821848;BM828410;BM982148;CH471110;CR533456;DA426159;NG_007885;NM_001244644;NM_014043 AAD34079;AAH01553;ACE86785;ACE87471;ADZ15822;BAD96374;BAG38173;BAG51022;BAG51025;BAG58830;CAB45721;CAG38487;EAW68868;NP_001231573;NP_054762;Q9UQN3 Hs.476930 1335615;1337903;1650649;1784828;2152066 D3S1284;D3S1603;RH66762;SHGC-155470;SHGC-77130 ALS17;CHMP2.5;DKFZp564O123;DMT1;VPS2-2;VPS2B OTTHUMP00000213795;OTTHUMP00000213812;OTTHUMP00000213813;VPS2 homolog B;chromatin modifying protein 2B;chromatin-modifying protein 2b;hVps2-2;vacuolar protein sorting-associated protein 2-2;vacuolar protein-sorting-associated protein 2-2 APPROVED protein-coding ENSG00000083937 HGNC:24537 13174 600795;609512;614696 REVIEWED 1342527 CHMP4A charged multivesicular body protein 4A CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] 14 14 14 q12 4543256 4547822 - 24678787 24683036 - 24209581 24213830 - 6480464;6907045;8554872 11031247;11042152;12477932;12860994;14505569;14505570;14519844;14583093;14678797;15489334;15632132;16189514;16730941;17350572;17547705;17711858;18209100;18511562;18641129;19143627;20888838;21139048;21191027;21762796;21762798;21789505;21975012;22258254;22547407;22754649;22762019;22863883;22939629;23477725;23527201;24107264;8889548 29082 E9PQ80;E9PQI5;H0YI89;H0YIN6;Q9BY43 AB100262;ABBA01061337;AF161483;AF212243;AL096870;AL136295;AMYH02028880;AW732226;AY329084;BC010893;BC107699;BC113533;BC113535;BC143834;BM041056;CB241867;CH471078;NM_014169 AAF29098;AAH10893;AAI07700;AAI13534;AAI13536;AAK14928;AAQ91193;ADR82892;BAC79376;EAW66065;EAW66066;EAW66067;EAW66068;NP_054888;Q9BY43 Hs.279761 1646846;2160956 WI-14151;WI-15002 C14orf123;CHMP4;CHMP4B;FLJ61658;HSPC134;MGC142093;MGC142095;SNF7;SNF7-1;Shax2;VPS32-1;VPS32A;hSnf-1;hVps32-1 OTTHUMP00000164694;OTTHUMP00000235236;OTTHUMP00000241219;SNF7 homolog associated with Alix-2;Snf7 homologue associated with Alix 2;chromatin modifying protein 4A;chromatin-modifying protein 4a;chromosome 14 open reading frame 123;vacuolar protein sorting-associated protein 32-1 APPROVED protein-coding ENSG00000254505 HGNC:20274 16597 610051 VALIDATED 1606751 CHMP4C charged multivesicular body protein 4C CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] 8 8 8 q21.13 78649178 78676231 + 82644688 82671750 + 81732453 81759515 + 6480464;6907045 11031247;12477932;12860994;14505569;14505570;14519844;14583093;14678797;15489334;16730941;17711858;18511562;19302785;21394083;21494275;21762796;21762798;21988832;22422861;22724069;23535730 92421 Q96CF2 AB120734;ABBA01004050;AC132219;AK000049;AK314873;AMYH02018315;AY329086;BC014321;BQ778244;BX492886;CH471068;NM_152284 AAH14321;AAQ91195;BAC87888;BAG37388;EAW87107;NP_689497;Q96CF2 Hs.183861 1691256;5022322 D11S2560;RH99324 MGC22825;SNF7-3;Shax3;VPS32C OTTHUMP00000227312;SNF7 homolog associated with Alix 3;Snf7 homologue associated with Alix 3;chromatin modifying protein 4C;chromatin-modifying protein 4c;hSnf7-3;hVps32-3;vacuolar protein sorting-associated protein 32-3;vps32-3 APPROVED protein-coding ENSG00000164695 HGNC:30599 18135 610899 VALIDATED 1343985 CHORDC2P cysteine and histidine-rich domain (CHORD) containing 2 pseudogene 14 14 14 q32.11 70248299 70252052 - 90201022 90204786 - 89734678 89738442 - 317775 ABBA01030513;AL137230;AMYH02029715;NG_002473 APPROVED pseudo HGNC:20050 INFERRED 1602310 CHMP7 charged multivesicular body protein 7 ENCODES a protein that exhibits protein transporter activity; INVOLVED IN late endosome to vacuole transport; FOUND IN ESCRT III complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); benzo[a]pyrene (ortholog) 8 8 8 p21.3 22063710 22082082 + 23101150 23119512 + 23243637 23261999 + 6480464 11031247;12477932;14702039;15489334;16189514;16344560;16856878;16964243;17711858;18029348;19773279;20732625;21139048;24250222;24816145;25015289 91782 B3KRZ9;B3KUH0;B4DKJ6;E5RFR8;E5RIU9;E5RJI3;Q8WUX9 ABBA01005539;AC100861;AK021776;AK092500;AK097202;AK296592;AK315664;AL832313;AL833843;AMYH02017607;AMYH02017608;AX405595;BC004344;BC019110;BC042050;CH471080;DB140277;NM_152272;XM_005273687;XM_006716415 AAH04344;AAH19110;AAH42050;BAG38030;BAG51048;BAG52561;BAG53432;BAG59208;CAD34702;CAD38703;EAW63631;EAW63632;EAW63633;EAW63634;NP_689485;Q8WUX9;XP_005273744;XP_006716478 Hs.5019 1648734;1750307;2191077 MARC_14383-14384:1007138470:1;SHGC-112620;STS-W49732 MGC29816 CHMP family, member 7;OTTHUMP00000162592;chromatin-modifying protein 7 APPROVED protein-coding ENSG00000147457 HGNC:28439 14534 611130 VALIDATED 1350634 CHODL-AS1 CHODL antisense RNA 1 21 21 21 q21.1 4386454 4436389 - 19207989 19257925 - 17835672 17885608 - 10830953;7757816 54075 ABBA01057126;AMYH02037562;AP000404;AP000745;HG511611;KC877784;NR_024354;T74237 Hs.404306 1727085 G62944 C21orf39;NCRNA00157 APPROVED ncrna HGNC:1279 VALIDATED 1320469 CHODL chondrolectin This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 21 21 21 q11.2 4792870 4815407 + 19400190 19639687 + 18027872 18267370 + 1580863;6480464;8554872 10830953;11707072;12079284;12477932;12621022;12975309;14702039;15489334;17606388;22016508;23568457;23648065;24529757 140578 Q9H9P2 ABBA01057129;ABBA01057130;ABBA01057131;ABBA01057132;ABBA01057133;ABBA01057134;AF130417;AF165175;AF257472;AF523313;AF523314;AF523315;AK022689;AK296009;AK313725;AL078474;AMYH02037565;AMYH02037566;AMYH02037567;AP000656;AP000998;AY358608;BC009418;CH471079;GM879243;HC466499;HC466501;HC466503;HC466505;HC466507;KC877800;KC877802;KC877803;KF454914;KF457034;KF457036;KF457040;KF457041;KF457042;KF457044;KF510486;KF511334;NG_029478;NM_001204174;NM_001204175;NM_001204176;NM_001204177;NM_001204178;NM_024944 AAH09418;AAL05981;AAP43902;AAP43903;AAP43904;AAQ88971;ABM84183;ABM87585;BAB14181;BAG36467;BAG58780;CAV13390;CBL54341;CBL54342;CBL54343;CBL54344;CBL54345;EAX10018;NP_001191103;NP_001191104;NP_001191105;NP_001191106;NP_001191107;NP_079220;Q9H9P2 Hs.283725 C21orf68;FLJ12627;MT75;PRED12 OTTHUMP00000083249;OTTHUMP00000083250;OTTHUMP00000083251;OTTHUMP00000083252;OTTHUMP00000083253;transmembrane protein MT75 APPROVED protein-coding ENSG00000154645 HGNC:17807 06261 607247 REVIEWED 732086 CHN1 chimerin 1 This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] 2 2 2 q31.1 169277589 169483716 - 175664042 175870671 - 174799314 175005379 - 1580863;6480464;7240710;8554872;8699517 10577917;11438594;12477932;1445199;14702039;15013773;15489334;15761153;15815621;16169070;16221859;16273093;16344560;17197532;17197533;18249095;18653847;18826946;19541263;20034095;20301369;20379614;20468071;20535495;21555619;21715346;21715684;21900206;2268301;2299665;23284715;24338392;7867622;8336731;8496137 1123 B8ZZ96;C9J1N1;C9J3G1;C9J3V9;C9JR98;F8W6K2;F8WAY4;F8WCQ9;P15882 AB209788;ABBA01062199;ABBA01062200;ABBA01062201;ABBA01062202;AC007435;AC018890;AC020596;AK055060;AK289941;AK300890;AMYH02005282;AMYH02005283;BC011393;BQ893027;CH471058;CR456864;DA307367;DA516095;DB453430;DB548770;KF456743;KF456746;NG_012642;NM_001025201;NM_001206602;NM_001822;NR_038133;S75654;X51408;Z22641 AAB33506;AAH11393;AAY14688;AAY14940;ABM84710;ABM92230;BAD93025;BAF82630;BAG51458;BAG62531;CAA35769;CAA80354;CAG33145;EAX11117;EAX11118;EAX11119;EAX11120;EAX11121;NP_001020372;NP_001193531;NP_001813;P15882 Hs.380138 1298319;1649376;1663542;1681326;1751237;2116138;2117112;2120804;2153797;2170014 AFMA304WB1;D2S2314;D2S2876;RH12769;RH65493;RH70825;SHGC-105055;SHGC-12689;WI-15872;WI-19142 ARHGAP2;CHN;DURS2;NC;RHOGAP2 A-chimaerin;N-chimaerin;OTTHUMP00000205333;OTTHUMP00000205334;OTTHUMP00000205335;OTTHUMP00000205339;OTTHUMP00000205340;OTTHUMP00000205342;Rho GTPase-activating protein 2;a2-chimaerin;alpha-chimerin;chimaerin 1;chimerin (chimaerin) 1;n-chimerin APPROVED protein-coding ENSG00000128656 HGNC:1943 00319 118423;604356 REVIEWED 1350256 CHN2 chimerin 2 This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014] 7 7 7 p15.3 29223651 29543508 + 29233991 29553944 + 29194505 29514328 + 1580863;6480464 10518540;11278894;11689559;12477932;12690205;12716467;12853948;12877655;14702039;15489334;15507211;15653288;15761153;15863513;16169070;16273093;16344560;16352660;16428439;16525710;16628218;17560670;17803461;18249095;18519826;19201754;19306875;19720790;19911011;20335173;20379614;20460425;20602751;20818722;21911749;23251661;23941981;24132900;7614486;8175705;9334226 1124 B3VCF5;B3VCG4;B7Z1V0;B7Z1W9;B8ZZU1;C9JQ94;F5GWP4;F5H003;H0YG02;H7C0V3;H7C138;J3KSU2;P52757 AA521339;ABBA01056795;ABBA01056796;ABBA01056797;ABBA01056798;AC004417;AC004593;AC005232;AC007255;AK026415;AK124021;AK126784;AK293959;AK294032;AK294216;AK294271;AK301235;AK313021;AK316030;AMYH02015436;AMYH02015437;AMYH02015438;AMYH02015439;AMYH02015440;AMYH02015441;AMYH02015442;BC112155;BQ446523;BU743119;CH236948;CH471073;DA096970;DA105459;DA190643;EU732750;EU732751;EU732752;EU732753;EU732754;EU732755;EU732756;EU732757;EU732758;EU732759;EU732760;EU732761;EU732762;EU732763;EU732764;EU732765;EU732766;GQ924106;NG_029365;NM_001039936;NM_001293069;NM_001293070;NM_001293071;NM_001293072;NM_001293073;NM_001293075;NM_001293076;NM_001293077;NM_001293078;NM_001293079;NM_001293080;NM_001293081;NM_004067;NR_120524;NR_120525;U28926;XM_005249599;XM_005249602;XR_171041;XR_171649;XR_172478 AAA86528;AAC06177;AAI12156;AAS02045;AAS07498;ACF04987;ACF04988;ACF04989;ACF04990;ACF04991;ACF04992;ACF04993;ACF04994;ACF04995;ACF04996;ACF04997;ACF04998;ACF04999;ACF05000;ACF05001;ACF05002;ACF05003;ADK47390;BAG35856;BAH11636;BAH11655;BAH11701;BAH11718;BAH13437;BAH14401;EAL24205;EAL24206;EAW93919;NP_001035025;NP_001279998;NP_001279999;NP_001280000;NP_001280001;NP_001280002;NP_001280004;NP_001280005;NP_001280006;NP_001280007;NP_001280008;NP_001280009;NP_001280010;NP_004058;P52757;XP_005249656;XP_005249659 Hs.654611;Hs.710429;Hs.734596 1298142;1335719;1338415;1338444;1649190;1657618;1661445;1667241;1691692;1693672;1695704;1696418;1710540;1735694;1772687;1857181;2141796;2144404;2159328;2166503;2173264;2187771;5022200;5037552;5092816;7186751 A006G33;D7S1406;D7S1806;D7S1869;D7S1981;D7S2007;D7S2148E;D7S2403;D7S435;D7S617;D8S2279;G32348;G42164;G69451;GDB:1317316;GDB:1317330;L18426;RH12474;RH18025;RH70289;SHGC-32133;SHGC-58598;SHGC-78749;SHGC-83344;SHGC-86315 ARHGAP3;BCH;CHN2-3;MGC138360;RHOGAP3 OTTHUMP00000122624;OTTHUMP00000202260;beta chimerin;beta-chimaerin;beta-chimerin;beta3-chimaerin;chimaerin 2;chimerin (chimaerin) 2;chimerin, beta-2;chimerin, testis-specific;rho GTPase-activating protein 3;rho-GTPase-activating protein 3 APPROVED protein-coding ENSG00000106069 HGNC:1944 04173 602857 REVIEWED 1354352 CHR chromate resistance; sulfate transport 7177110;9732752 1125 HGNC:1945 118840 1312263 CHORDC1 cysteine and histidine-rich domain (CHORD) containing 1 ENCODES a protein that exhibits Hsp90 protein binding; INVOLVED IN chaperone-mediated protein folding (ortholog); regulation of cellular response to heat (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; arsane 11 11 11 q14.3 87234115 87257056 - 89933597 89956532 - 90200429 90223364 - 6480464;8554872 10571178;12477932;12965203;14702039;15642353;16083881;16344560;17207965;18854154;19875381;19910486;20360068;20800603;21139048;21890473;21906983;21963094;22190034;22833565;22863883;23000965;23184943;24250222;25036637;8125298;8889548 26973 E9PHZ2;E9PIF7;E9PIZ4;E9PL00;E9PPQ5;E9PSD5;Q9UHD1 ABBA01040072;AF123249;AF192466;AF217505;AK094608;AK225365;AK225565;AK226099;AK290231;AK312663;AMYH02025313;AP000648;AP002364;BC002339;BC017789;BC072461;BX537692;CB852298;CF146721;CH471065;CK300454;DA417105;KF455441;NM_001144073;NM_012124;XR_247194;XR_247195 AAF18437;AAF67616;AAG43237;AAH17789;AAH72461;ADQ32065;BAF82920;BAG35545;EAW66867;EAW66868;EAW66869;EAW66870;EAW66871;NP_001137545;NP_036256;Q9UHD1 Hs.22857 1718115;1771135;2131328;5015861;7185938 D10S16;RH122818;SHGC-53779;SHGC-56951 CHP-1;CHP1;FLJ37289 CHORD-containing protein 1;OTTHUMP00000235676;OTTHUMP00000235678;chord domain-containing protein 1;cysteine and histidine-rich domain (CHORD)-containing 1;cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1;cysteine and histidine-rich domain-containing protein 1;protein morgana APPROVED protein-coding HGNC:14525 05072 604353 VALIDATED 736499 CHP1 calcineurin-like EF-hand protein 1 This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008] 15 15 15 q13.3 18291415 18342063 + 41523341 41574085 + 41231143 41281887 + 6480464 10593895;11350981;11481038;12204119;12226101;12477932;12576672;14702039;15035633;15312048;15489334;15987692;16169070;16341674;16511206;17050540;18029348;18628988;18815128;19056867;19165527;19322201;20720019;21085126;21139048;21906983;22190034;23000965;23128233;7829101;8626580;8901634 11261 F5GX29;H0YKE7;H0YLX1;H0YLY7;H0YNG9;Q99653 ABBA01038418;ABBA01038419;AC012652;AK000095;AK094363;AK299660;AK307060;AK312582;AMYH02030265;AMYH02030266;AMYH02030267;AV761136;BC008373;BC031293;BE250654;BG398684;BI491312;BM828547;BQ213482;BX391712;CH471125;CR536539;CR542085;NM_007236;U61538;XM_005254140 AAB37770;AAH31293;BAG35476;BAG61577;CAG38776;CAG46882;EAW92474;EAW92475;EAW92476;EAW92477;NP_009167;Q99653;XP_005254197 Hs.406234;Hs.745372 1666063;2109141;5015404;5016596;5020946;5020948;5114480;5117897 CHP_9248;G35510;GDB:631802;GDB:631813;L17705;L17971;RH71243;WI-17591 CHP;FLJ20350;SLC9A1BP;Sid470p;p22;p24 EF-hand calcium-binding domain-containing protein p22;OTTHUMP00000160722;SLC9A1 binding protein;calcineurin B homolog;calcineurin B homologous protein 1;calcineurin B-like protein;calcineurin homologous protein;calcineurin-like EF hand protein 1;calcium binding protein P22;calcium-binding protein CHP;calcium-binding protein p22 APPROVED protein-coding ENSG00000187446 HGNC:17433 06101 606988 REVIEWED 1349185 CHPT1 choline phosphotransferase 1 ENCODES a protein that exhibits diacylglycerol cholinephosphotransferase activity; INVOLVED IN phosphatidylcholine biosynthetic process; platelet activating factor biosynthetic process; PARTICIPATES IN glycerophospholipid metabolic pathway; FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3-dimethoxynaphthalene-1,4-dione; 3-methylcholanthrene 12 12 12 q 101756108 101786875 + 102091417 102122852 + 101697639 101729074 + 1580863;6480464;6907045 10893425;12359261;12477932;14702039;15936720;16303743;19322201;21963094 56994 F8W1B3;H0YHV7;H0YI24;H0YI84;Q8WUD6 ABBA01053237;ABBA01053238;AC010205;AC063950;AF047431;AF111803;AF195623;AF195624;AK075211;AK093067;AK226127;AMYH02027073;AY166717;AY166718;AY280609;AY280610;AY294627;BC020819;BC050429;CD300296;CH471054;CQ784008;NM_020244;XM_005269036;XR_245946 AAD44019;AAF87947;AAF87948;AAH20819;AAH50429;AAL39005;AAN86122;AAN86123;AAP34412;AAP34413;AAP37157;BAG52084;BAG52647;CAF86967;EAW97673;EAW97674;EAW97675;EAW97676;EAW97677;NP_064629;Q8WUD6;XP_005269093 Hs.293077 1648636;1698698;1714273;1767107;1782748;2109917;2150270;2152725;5015619;5015961;5022578;5114791;5123317 D11S3114;D15S1477;D1S1423;G31467;RH102909;RH119915;RH44831;RH77822;SHGC-172036;STS-R44048;SYCP3_9645;WI-14986;WI-20671 CPT;CPT1;hCPT1 AAPT1-like protein;OTTHUMP00000243813;OTTHUMP00000243814;OTTHUMP00000243815;cholinephosphotransferase 1;cholinephosphotransferase 1 alpha;diacylglycerol cholinephosphotransferase 1;phosphatidylcholine synthesizing enzyme protein-coding ENSG00000111666 HGNC:17852 13052 VALIDATED 1606515 CHP2 calcineurin-like EF-hand protein 2 This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson's Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013] 16 16 16 p12.2 22544109 22548418 + 23765948 23770272 + 23754627 23758951 + 6480464;6907045;8554872 10493829;12097419;12226101;12576672;16710297;17708351;18718049;18815128;21392185;21507922;22189947;8901634 63928 O43745 ABBA01017075;AC012317;AC130454;AF146019;AK290253;AK313062;AMYH02031707;BF197519;CH471145;NM_022097 AAG14945;AAI52867;BAF82942;BAG35891;EAW55800;EAW55801;NP_071380;O43745 Hs.178589 1684341 RH98447 OTTHUMP00000162371;calcineurin B homologous protein 2;calcineurin-like EF hand protein 2;hepatocellular carcinoma antigen gene 520;hepatocellular carcinoma-associated antigen 520 APPROVED protein-coding ENSG00000166869 HGNC:24927 14259 REVIEWED 1604004 CHPF2 chondroitin polymerizing factor 2 ENCODES a protein that exhibits acetylgalactosaminyltransferase activity (inferred); N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); chondroitin sulfate biosynthetic process (inferred); chondroitin sulfate metabolic process (inferred); PARTICIPATES IN chondroitin sulfate biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 2-methylcholine; atrazine; cadmium atom 7 7 7 q36.1 145486944 145493264 + 150929575 150935913 + 151232489 151238827 + 6480464;6907045;8554872 10718198;12145278;12477932;12975309;14702039;15489334;18316376;19946888;21468578;22268729 54480 B3KPG6;C9JZF7;G5E9W2;H7C5L5;Q9P2E5 AACC02000108;AB037823;AB095812;ABBA01035160;AC021097;AI191668;AK025885;AK025897;AK056331;AMYH02017071;AY358407;BC052944;BC064509;CH471173;NM_001284295;NM_019015 AAH64509;AAQ88773;BAA92640;BAG30817;BAG51678;EAL24509;EAW54010;EAW54011;EAW54012;NP_001271224;NP_061888;Q9P2E5 Hs.647084 1688328;2107009;2149938;2181139 CSGlcA-T__4645.2;G33154;RH91733;STS-R51978 CSGLCA-T;CSGlcAT;ChSy-3;KIAA1402;chPF-2 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase;OTTHUMP00000212063;OTTHUMP00000212170;OTTHUMP00000212304;chondroitin glucuronyltransferase;chondroitin sulfate glucuronyltransferase;chondroitin synthase 3;chondroitin synthase-3 protein-coding ENSG00000033100 HGNC:29270 10474 608037 VALIDATED 1348275 CHRD chordin This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jul 2008] 3 3 3 q27 182538936 182548675 + 184097861 184107617 + 184380073 184389829 + 1580863;6480464;6484113;6907045;8554872 10479448;10480362;10648240;11260715;11472837;11790302;11992721;12477932;12975309;14759258;15064755;15489334;15775969;16449796;16713569;17474147;18533030;19023570;19058174;19453261;19913121;20139978;20628086;21988832;23931154;8619474;9110174;9782094 8646 B7Z6F4;E7ESX1;Q9H2X0 AB208947;ABBA01058444;ABBA01058445;ABBA01058446;AC078797;AF038198;AF076612;AF136632;AF136633;AF136634;AF136635;AF209928;AF209929;AF209930;AF283325;AK074147;AK293456;AK295632;AK296316;AK300213;AK300476;AMYH02008306;AY358926;BC029879;BC112345;CH471052;NG_029559;NM_003741;XM_005247848;XM_005247849;XM_005247850;XM_005247851;XR_427383 AAC69835;AAF70236;AAF70237;AAF70238;AAF70239;AAG35767;AAG35768;AAG35769;AAG35784;AAH29879;AAI12346;AAQ89285;BAB84973;BAD92184;BAH11513;BAH12133;BAH12312;BAH13240;BAH13292;EAW78239;EAW78240;EAW78241;EAW78242;NP_003732;Q9H2X0;XP_005247905;XP_005247906;XP_005247907;XP_005247908 Hs.166186 1339634;1339805;1659907;1679658;1682531;1722403;1740259;1773047;1796940;2109143;5491523 CHRD_8840;D22S1175;D3S1682;D3S3578;D3S4165;G60274;MARC_16893-16894:1020710585:1;RH80423;RH91810;SHGC-35471;THPO_1099 MGC133038 OTTHUMP00000180571;OTTHUMP00000210476;OTTHUMP00000210477 APPROVED protein-coding ENSG00000090539 HGNC:1949 04592 603475 REVIEWED 2902850 CHRFAM7AP1 CHRFAM7A pseudogene 1 Y Y q11.2 27610216 27610821 + 25464069 25464674 + 12815422;9847074 359999 AC006328;NG_004755 pseudo HGNC:37766 VALIDATED 1603198 CHPF chondroitin polymerizing factor ENCODES a protein that exhibits acetylgalactosaminyltransferase activity (inferred); glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (inferred); metal ion binding (inferred); INVOLVED IN carbohydrate metabolic process (inferred); chondroitin sulfate biosynthetic process (inferred); chondroitin sulfate metabolic process (inferred); PARTICIPATES IN chondroitin sulfate biosynthetic pathway; FOUND IN Golgi cisterna membrane (inferred); Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; atrazine; benzo[a]pyrene 2 2 2 q35 214173632 214178450 - 220403669 220408487 - 219538947 219543765 - 6480464;6907045 11230166;12477932;12716890;12761225;12975309;14702039;15231747;15231748;15489334;16169070;18816836;20729547;21139048;21468578;21906983;21963094;21988832;22082830;22268729;22461910 79586 F8W6H2;Q8IZ52 AB086063;AB095813;ABBA01023840;AC009955;AK026331;AK302124;AL136814;AMYH02005823;AY358403;BC008878;BC021223;BC023531;CH471063;DC341343;NM_001195731;NM_024536 AAH08878;AAH21223;AAH23531;AAQ88769;BAB15449;BAC78393;BAC81536;BAG63502;CAB66748;EAW70764;EAW70765;EAW70766;EAW70767;EAW70768;EAW70769;EAW70770;NP_001182660;NP_078812;Q8IZ52 Hs.516711 1798760;1799050;1803172;1814974;1814976;1821248;1843444;1964794;1964796;1964798;1964800;1964802;1964804;1964806;1964808;1964810;1964812;1964814;1964816;1964818;1964820;1964822;1964824;1964826;1964828;1964830;1964832;1964834;1964836;1964838;1964840;1964842;1964844;1964846;1964848;1964850;1964852;1964854;1964856;2127754;2214044;2214046;2214048;2214050 ECD00220;ECD00370;ECD02477;ECD08518;ECD08519;ECD11701;ECD22931;REN53271;REN53272;REN53273;REN53274;REN53275;REN53276;REN53277;REN53278;REN53279;REN53280;REN53281;REN53282;REN53283;REN53284;REN53285;REN53286;REN53287;REN53288;REN53289;REN53290;REN53291;REN53292;REN53293;REN53294;REN53295;REN53296;REN53297;REN53298;REN53299;REN53300;REN53301;REN53302;RH48039;stSG633075;stSG633076;stSG633077;stSG633080 CHSY2;CSS2;FLJ22678 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II;N-acetylgalactosaminyltransferase 2;OTTHUMP00000064873;chondroitin glucuronyltransferase 2;chondroitin sulfate synthase 2;chondroitin-polymerizing factor;glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II protein-coding ENSG00000123989 HGNC:24291 10829 610405 VALIDATED 1319606 CHRAC1 chromatin accessibility complex 1 CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004] 8 8 8 q24.3 137690513 137696362 + 141521397 141527252 + 140511298 140517153 + 1580863;6480464;9495920 21358755 10880450;11000277;12434153;12477932;14702039;14759371;15489334;16344560;19322201;19471022;19505873;21139048;21172662;21832049;22242598;22863883;22939629;24148822;24816145 54108 E5RGS9;H0YBP8;H0YBX4;Q9NRG0 ABBA01013672;AC107375;AF226076;AK023537;AK308709;AL543044;AMYH02018884;AMYH02018885;BC015891;BU160855;CH471060;DA647606;DA887467;NM_017444;NR_023360;NR_040712 AAF72416;AAH15891;ABM86546;ABW03665;BAB14601;EAW92206;NP_059140;Q9NRG0 Hs.279704 1646487;2107929;2185895;5024039 CHRAC1__4568;D16S325;RH68212;SGC31771 CHARC1;CHARC15;CHRAC-1;CHRAC-15;CHRAC15;YCL1;huCHRAC15 DNA polymerase epsilon subunit p15;OTTHUMP00000226200;chromatin accessibility complex 15 kDa protein;chromatin accessibility complex protein 1;histone-fold protein CHRAC15 APPROVED protein-coding ENSG00000104472 HGNC:13544 06275 607268 VALIDATED 2902897 CHRFAM7AP2 CHRFAM7A pseudogene 2 Y Y q11.2 26351611 26352216 - 24205464 24206069 - 12815422 359998 AC012005;NG_004755 pseudo HGNC:23937 VALIDATED 731068 CHRM1 cholinergic receptor, muscarinic 1 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008] 11 11 11 q13 59999724 60012585 - 62676151 62689012 - 62908679 62921540 - 734777;1580863;5133415;5133416;6480464;8549585 12483218;16931638;17764462;23841840 10333492;10336173;11306684;11855742;12049494;12476323;12477932;12694403;12707929;12810581;12851722;1411529;1445347;14504414;14657398;15086532;15280370;15383745;15452121;15489334;16318751;16328454;16336219;16368694;16406470;16439611;16754659;16874522;16877267;16902941;17272726;17373692;17415969;17462859;17540859;17655760;18073210;18240029;18249005;18272392;18282687;18317461;18322150;18385290;18454168;18577758;18723515;18790604;1905013;19086053;19156168;19183167;19404243;19451648;19753311;19863190;19874574;19913121;19927300;20133736;20146726;20201926;20237496;20467438;20602615;20628086;21203415;21605442;21685390;22117071;22146060;22338582;22391213;22450048;22571431;22865467;22990911;23147108;2336407;23423139;23455440;23460876;23604140;23678982;24365239;24443568;24636402;24753247;2674717;2739737;3037705;3443095;3697105;7925360;8063729;8139539;8190105;8248499;8508928;8938448;9303164;9518684;9603968;9614217 1128 F5GZF8;P11229;Q53XZ3 ABBA01003250;AF385587;AF498915;AJ006520;AK312374;AMYH02024905;AP000438;BC007740;BC022984;BT007166;CH471076;NM_000738;X15263;X52068;Y00508 AAH07740;AAH22984;AAK68112;AAM18938;AAP35830;ABM81651;ABM83646;ABM86895;BAG35292;CAA07081;CAA33334;CAA36291;CAA68560;EAW74124;EAW74125;EAW74126;NP_000729;P11229 Hs.632119 1658241;1742559;1794888;2107931 CHRM1;CHRM1_8256;GDB:197880;PMC65026P1 HM1;M1;M1R;MGC30125 OTTHUMP00000236792;acetylcholine receptor, muscarinic 1;muscarinic acetylcholine receptor M1 APPROVED protein-coding ENSG00000168539 HGNC:1950 00338 118510 REVIEWED 6480853 CHRM3-AS1 CHRM3 antisense RNA 1 1 q43 239898019 239899872 - 100873984 ABBA01033225;AL356361;AMYH02003015;BX116264;NG_032046;NR_046582 Hs.199475 APPROVED ncrna ENSG00000234601 HGNC:40150 VALIDATED 1349204 CHRDL1 chordin-like 1 This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009] X X X q23 110396687 110518880 - 109917084 110039286 - 110673856 110796058 - 1580863;6480464;6484113;8699517;8554872 11118896;11441185;12477932;14702039;15342556;15489334;15621726;15772651;16385451;17029022;17881565;18587495;19357253;20130390;21378988;22284829;2571565 91851 Q9BU40 AA057564;AB209548;ABBA01043371;ABBA01043372;ABBA01043373;ABBA01043374;ABBA01043375;ABBA01043376;ABBA01043377;ABBA01043378;ABBA01043379;ABBA01043380;ABBA01043381;ABBA01043382;ABBA01043383;ABBA01043384;ABBA01043385;AK092245;AK293106;AK297563;AK312270;AL049176;AL591489;AMYH02040233;AY608913;AY608914;BC002909;BP377491;CH471120;DC404314;NG_012816;NM_001143981;NM_001143982;NM_001143983;NM_145234;XM_005262221;XM_005262222;XM_005262223;XM_005262224 AAH02909;AAU25841;BAD92785;BAF85795;BAG52508;BAG59955;EAX02655;EAX02656;EAX02657;NP_001137453;NP_001137454;NP_001137455;NP_660277;Q9BU40;XP_005262278;XP_005262279;XP_005262280;XP_005262281 Hs.496587 1670780;1691624;1774920;2137210;2160889;2168961;2169968;2203854;5023733 116YB8;AL022454;AL031572;AL032584;AU048745;DXS7506;DXS7756;STS-AA018704;stSG622307 CHL;MGC1;MGCN;NRLN1;VOPT;dA141H5.1 OTTHUMP00000023853;OTTHUMP00000023854;OTTHUMP00000216337;OTTHUMP00000216338;OTTHUMP00000226627;chordin-like protein 1;megalocornea 1 (X-linked);neuralin 1;neuralin-1;neurogenesin-1;ventroptin APPROVED protein-coding ENSG00000101938 HGNC:29861 02285 300350 REVIEWED 5687892 CHRM3-AS2 CHRM3 antisense RNA 2 1 1 q43 239869528 239882463 - 239707126 239719119 - 100506915 ABBA01033223;AL513543;AL832284;AMYH02003015;CT002712;LN607900;LN607902;NG_032046;NR_103776 Hs.667175 1673304;1721331;1756267;2163376;2175116;2184489 D1S1817E;D1S2381;G59665;SHGC-143172;SHGC-76588;WIAF-1659 DKFZp667K2218 APPROVED ncrna ENSG00000233355 HGNC:43725 VALIDATED 1351978 CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008] 15 15 15 q13.1 8162865 8168796 - 30652769 30685864 - 30360566 30393661 - 6480464;8554872 11424985;11829490;12477932;14729617;15489334;15885267;16417613;16572171;16823804;17012698;17192894;19082523;19149910;19462340;19631623;19641318;20351714;20926142;22300029;23553139;24024466;9782083 89832 H3BPP0;P36544;Q494W8 ABBA01143601;AC019322;AC243679;AF029838;AF029839;AF036903;AF037646;AF332759;AK292984;BC101345;BC101346;BC101347;BC101348;BQ720423;NM_139320;NM_148911;XM_005254750;XM_006725563 AAI01346;AAI01347;AAI01348;AAI01349;BAF85673;NP_647536;NP_683709;Q494W8;XP_005254807;XP_006725626 Hs.510853 1645403;1674139;1684648;1739479;1774054;2113848;2113858;2123911;2161475;2170635;2178849;5017979 CHRFAM7A_s9;CHRNA7;D15S610E;D15S937;RH11309;RH26807;RH78395;SHGC-12902;SHGC-36068;STS-X70297;UniSTS:479961;WI-19149 CHRNA7;CHRNA7-DR1;D-10;MGC120482;MGC120483 CHRNA7 (cholinergic receptor, nicotinic, alpha polypeptide 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion;CHRNA7-FAM7A fusion protein;alpha 7 neuronal nicotinic acetylcholine receptor-FAM7A hybrid;alpha-7 nicotinic cholinergic receptor subunit APPROVED protein-coding ENSG00000166664 HGNC:15781 18704 609756 REVIEWED 1314650 CHRDL2 chordin-like 2 INVOLVED IN cartilage development (inferred); cell differentiation (inferred); ossification (inferred); FOUND IN extracellular space; INTERACTS WITH 3-methylcholanthrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dextran sulfate (ortholog) 11 11 11 q14 71714346 71749059 - 74407474 74442227 - 74696429 74731182 - 6480464 12477932;12853144;12975309;14660436;15094188;15340161;16502470;18029348;19453261 25884 A8MQ10;H0YCU0;H0YDT1;Q6WN33;Q6WN34;Q9BZ90 ABBA01017480;AF332891;AK304519;AL047873;AL110168;AMYH02025109;AP001324;AY163868;AY279090;AY279091;AY279092;AY279093;AY279094;AY358522;BC142623;CH471076;JN579714;NM_001278473;NM_015424;XM_005273884 AAG50288;AAI41565;AAI42624;AAI53101;AAO31809;AAQ19179;AAQ19180;AAQ19181;AAQ19182;AAQ19183;AAQ88886;AEV56635;BAG65323;CAB53666;EAW74944;EAW74945;NP_001265402;NP_056239;Q6WN34;XP_005273941 Hs.432379 1659747;1737941;2111282 D11S1892;D11S3545;L18031 BNF-1;BNF1;CHL2;DKFZp586N2124;FKSG37 OTTHUMP00000230490;OTTHUMP00000230491;OTTHUMP00000230494;breast tumor novel factor 1;chordin-like protein 2;chordin-related protein 2 protein-coding ENSG00000054938 HGNC:24168 09881 613127 VALIDATED 1350007 CHRM5 cholinergic receptor, muscarinic 5 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008] 15 15 15 q26 11064121 11160334 + 34260446 34357295 + 33968245 34065094 + 1580863;6480464;8549585 23841840 10336173;11306684;11855742;12477932;12675126;14702039;15292665;15452121;16754659;16877267;17373692;17608938;17951979;18240029;1905013;19058789;19086053;19156168;19874574;19913121;19944766;20379614;20628086;2540186;3272174;8063729;8248499;8576254;8663391;9733718 1133 H0YKC0;P08912;Q8IVW0 AB084282;ABBA01038546;ABBA01038547;AC009268;AC069045;AF026263;AF385591;AF498919;AK095198;AMYH02030147;AMYH02030148;BC041805;BC068528;CH471125;M80333;NM_012125;XM_005254141 AAA51569;AAB95158;AAH41805;AAH68528;AAK68116;AAM18942;ACE87817;ACT64560;ADZ15989;BAB91222;EAW92282;EAW92283;NP_036257;P08912;XP_005254198 Hs.584747 1698216;1777191;2140555;2154212;5095179 CHRM5_s11;D15S1263;RH102644;RH69182;WI-15231 HM5;MGC41838 OTTHUMP00000159731;acetylcholine receptor, muscarinic 5;muscarinic acetylcholine receptor M5 APPROVED protein-coding HGNC:1954 00331 118496 VALIDATED 68976 CHRM4 cholinergic receptor, muscarinic 4 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008] 11 11 11 p12-p11.2 46554217 46555684 - 46405335 46413122 - 46385090 46386557 - 1580863;1642301;6480464;8549585;8554872 16497176;23841840 10336173;10737800;11306684;11855742;12048193;12476323;12477932;12505680;15263021;15452121;15489334;1577490;16352729;17373692;18240029;18282687;18337477;18577758;19156168;19874574;20406819;21295605;23490763;24074052;24768300;24807966;2570410;2674717;2739737;2834384;3037705;3272174;3443095;7916637;8248499;8576254;9603968;9843378 1132 P08173;Q96RG8 ABBA01060748;AC116021;AF385590;AF498918;AMYH02024701;BC095546;BC119775;BC119817;BC137535;BQ322895;CH471064;M16405;NM_000741;X15265 AAA51571;AAH95546;AAI19776;AAI19818;AAI37536;AAK68115;AAM18941;CAA33336;EAW68004;NP_000732;P08173 Hs.248100 1683467;1742505;1768483;2186400;2218750;5492439 CHRM4__4571;GDB:197831;RH27302;RH78928;STS-M16405;UniSTS:481077 HM4;M4R OTTHUMP00000205575;acetylcholine receptor, muscarinic 4;muscarinic acetylcholine receptor M4 APPROVED protein-coding ENSG00000180720 HGNC:1953 00330 118495 REVIEWED 732599 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012] 2 2 2 q31.1 169225856 169242726 - 175612320 175629200 - 174747592 174764472 - 704386;1580863;6480464;7240710;8549510;8549508;8554872;8699517 10606626;19126755;23032192 10195214;10910772;10958399;12015305;12477932;12588888;12928480;1397297;15028279;15079006;16435141;1694127;17028140;17082486;1712080;17373692;17687331;18179903;18252226;18625075;18806275;19010884;19059502;19086053;19259974;19307444;19760673;19913121;20201926;20301347;20379614;20628086;20661225;20734064;2221824;22728938;23232035;23448903;23775407;24121633;2449458;3338555;3651795;6688857;7254233;7619526;7695910;7725386;7863154;7902325;8334706;8441631;8872460;8910344;9158151;9221765;9546329 1134 B8ZZD3;E7ENE5;F8WDS3;G5E9G9;P02708;Q53SH4 ABBA01062197;ABBA01062198;AC018890;AK291338;AK299445;AK315312;AMYH02005281;BC006314;BC043196;BG828551;CD013889;CH471058;DQ323657;DQ323658;NG_008172;NM_000079;NM_001039523;S77094;X02502;X17104;X70108;Y00762 AAD14247;AAY14687;ABD27888;ABD27889;BAF84027;BAG37716;BAG61418;CAA26344;CAA34960;CAA49705;CAA68731;EAX11124;EAX11125;EAX11126;EAX11127;EAX11128;NP_000070;NP_001034612;P02708 Hs.434479 1672318;2117224;5095181 CHRNA1;D2S1411;D2S2716 ACHRD;CHRNA;CMS2A;FCCMS;SCCMS ACHRA;OTTHUMP00000163187;OTTHUMP00000205172;OTTHUMP00000205173;OTTHUMP00000205174;OTTHUMP00000205175;acetylcholine receptor subunit alpha;acetylcholine receptor, nicotinic, alpha 1 (muscle);cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle);muscle nicotinic acetylcholine receptor;nicotinic acetylcholine receptor alpha subunit;nicotinic cholinergic receptor alpha 1 APPROVED protein-coding ENSG00000138435 HGNC:1955 00007 100690;253290;601462;608930 REVIEWED 733234 CHRM2 cholinergic receptor, muscarinic 2 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q31-q35 131292618 131440990 + 136553399 136703720 + 136868652 137017024 + 1358507;1580863;5509584;5509587;5509585;5509574;5509586;5509581;5509583;5509579;6480464;8549585;8554872 12116189;19103464;19308904;19500151;19958780;20351719;20691427;20830301;23841840;9148906 10336173;10544184;10895079;10929429;10952973;11076863;11230166;11256614;11306684;11552008;11600475;11855742;12093817;12381439;12477932;12690205;12694864;12774299;12810581;12825791;14512373;14751843;15086532;15210286;15255931;15379890;15489334;15489336;16000316;16181410;16336219;16368694;16381901;16501017;16548883;16818863;16823639;16855219;17065150;17081262;17123299;17160701;17335853;17373692;17468496;17552496;17567401;17601350;17851256;17890226;17996044;17999088;18240029;18282687;18316677;18348264;18451336;18524769;18563417;18577758;18618671;18977241;18979273;19086053;19156168;19181679;19183167;19322201;19374848;19418213;19626040;19644963;19874574;19913121;20051519;20125193;20146726;20201926;20304928;20351714;20379614;20602615;20628086;21176104;21441226;21457223;21494862;21816540;21883161;22278061;2249995;22575825;22610841;22948826;22965232;23449734;23583979;23743182;23747232;23781107;23793025;24466231;24807965;24807966;2674717;2739737;3037705;3443095;7579899;7797501;8139539;8248499;8288567;8576254;9063897;9579781;9603968 1129 A4D1Q0;P08172;Q6SL56;Q6SL59;Q86SJ1 AB041391;ABBA01001138;ABBA01001139;AC009264;AC020581;AF385588;AF498916;AK125233;AK290236;AL832585;AMYH02016836;AMYH02016837;AY034603;AY034604;AY034605;AY219703;AY219704;AY219705;AY456125;AY456126;AY456127;AY456128;AY456129;BC095547;BC106741;BC106742;CH236950;CH471070;HC295424;M16404;NG_011846;NM_000739;NM_001006626;NM_001006627;NM_001006628;NM_001006629;NM_001006630;NM_001006631;NM_001006632;X15264 AAA51570;AAH95547;AAI06742;AAI06743;AAK68113;AAM18939;AAO23567;AAO23568;AAO23569;AAO65595;AAO65596;AAO65597;AAR14890;AAR14891;AAR14892;AAR14893;AAR14894;BAA94476;BAF82925;CAA33335;CAL38394;CBJ06536;EAL24054;EAW83865;EAW83866;NP_000730;NP_001006627;NP_001006628;NP_001006629;NP_001006630;NP_001006631;NP_001006632;NP_001006633;P08172 Hs.535891 1698638;1751839;1778390;1790325;2117755;2129218;2154066;2160530;2183131;2187259;5492571 AFMA129WE9;CHRM2;GDB:1317550;GDB:1317998;GDB:1318056;RH102876;RH48062;SHGC-105841;SHGC-35608;STS-AA015944;UniSTS:481709 FLJ43243;HM2;MGC120006;MGC120007 7TM receptor;OTTHUMP00000208393;OTTHUMP00000208394;OTTHUMP00000208395;OTTHUMP00000208396;acetylcholine receptor, muscarinic 2;cholinergic receptor, muscarinic 2, isoform a;muscarinic M2 receptor;muscarinic acetylcholine receptor M2 APPROVED protein-coding ENSG00000181072 HGNC:1951 00328 118493 REVIEWED 734195 CHRM3 cholinergic receptor, muscarinic 3 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. [provided by RefSeq, Jul 2008] 1 1 1 q43 213047986 213328202 + 239549876 240078750 + 239386576 239915450 + 1580863;734983;5133439;5133438;5133441;5133437;5133440;5133442;6480464;8549585;7240710;8699517;8554872 11242080;17922784;18348887;18480105;19281093;20150622;20394512;23841840 10051746;10336173;10777483;10940357;11238933;11306684;11665980;11856737;11867338;11877431;12126481;12194018;12381439;12477932;12642833;12649280;12694864;12799371;14573754;14702039;14977875;15263021;15280370;15383626;15452121;15489334;15725576;15769745;15870063;16113538;16303743;16368694;16710414;16754659;17005862;17065150;17130513;17192665;17335853;17373692;17513382;17554300;17637176;17851256;17890325;17951979;18070938;18240029;18249005;18272392;18348264;18385290;18422974;18524769;18563417;18996102;19033440;1905013;19086053;19156168;19182865;19183167;19240061;19247692;19460789;19575010;19626040;19648965;19668880;19669628;19751772;19874574;19927300;19951374;20146726;20332620;20395537;20489201;20519144;20602615;20613776;21041608;21118716;21224444;21245133;21450750;21507922;21685385;21798865;21873996;21877253;21940308;22077972;22137887;22178951;22192964;22410194;22466417;22500107;22510450;22511543;22564786;22610841;22691178;22893470;22899762;22949513;23142559;23227858;23251661;23382834;23400010;23509962;23521066;23760269;23786223;23838802;24334576;24419413;24596086;24697698;2674717;2739737;3037705;3272174;3443095;7629074;8016895;8063729;8248499;8576254;9547368;9603968;9740233 1131 B1AN12;P20309 AB041395;ABBA01033221;ABBA01033222;ABBA01033223;ABBA01033224;ABBA01033225;AC099564;AC104460;AF279779;AF385589;AF498917;AK056349;AK074575;AK095715;AL356361;AL357499;AL513543;AMYH02003015;BC096844;BC121026;BC121027;BX099030;CH471098;CQ782536;NG_032046;NM_000740;U29589;X15266;XM_005273032;XM_005273033;XM_005273034;XM_006711732 AAA70337;AAG30036;AAH96844;AAI21027;AAK68114;AAM18940;ACE86798;ACE87485;BAA94480;CAA33337;CAF85818;EAW70076;EAW70077;EAW70078;NP_000731;P20309;XP_005273089;XP_005273090;XP_005273091;XP_006711795 Hs.155736;Hs.7138 1673304;1692260;1705966;1710732;1721331;1726731;1755411;1756267;1760765;1777784;1790327;1849912;1852710;1853644;2116041;2162078;2163376;2166227;2175116;2179917;2184489;2186657;2219780 AFMA072XA5;AL009307;AL009400;AL009465;AL009667;AL034024;CHRM3;CHRM3_4570;D1S1817E;D1S2381;G16250;G59665;G62753;SHGC-142291;SHGC-143172;SHGC-144279;SHGC-76586;SHGC-76588;SHGC-76591;SHGC-79693;SHGC-83993;WI-10464;WIAF-1659 EGBRS;HM3 OTTHUMP00000037632;OTTHUMP00000037633;acetylcholine receptor, muscarinic 3;m3 muscarinic receptor;muscarinic acetylcholine receptor M3 APPROVED protein-coding ENSG00000133019 HGNC:1952 00329 100100;118494 REVIEWED 735581 CHRNA10 cholinergic receptor, nicotinic, alpha 10 (neuronal) ENCODES a protein that exhibits acetylcholine-activated cation-selective channel activity (inferred); calcium channel activity (inferred); extracellular ligand-gated ion channel activity (inferred); INVOLVED IN positive regulation of cytosolic calcium ion concentration; PARTICIPATES IN acetylcholine signaling pathway via nicotinic acetylcholine receptor; FOUND IN axon (inferred); cell junction (inferred); integral component of membrane (inferred); INTERACTS WITH acetylcholine; benzene; ethylbenzene 11 11 11 p15.5 3691897 3697694 - 3686817 3692614 - 3665587 3671384 - 1580863;6480464;8549510 19126755 11350119;11752216;12477932;15531379;17373692;17559419;18420419;19156168;19259974;19760673;20231857;20379614;20584212;20734064;22774872 57053 E9PNT7;E9PNX2;Q9GZZ6 ABBA01032051;AC060812;AF199235;AF327367;AJ278118;AJ295237;AMYH02024226;BC136250;BC143303;CH471158;NM_020402 AAG00795;AAI36251;AAI52765;AAK14333;CAC16144;CAC20435;EAX02560;NP_065135;Q9GZZ6 Hs.732806 1797390 CHRNA10_67.2 NACHR alpha-10;OTTHUMP00000013620;acetylcholine receptor, nicotinic, alpha 10 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 10;neuronal acetylcholine receptor subunit alpha-10;nicotinic acetylcholine receptor subunit alpha-10 APPROVED protein-coding ENSG00000129749 HGNC:13800 09395 606372 PROVISIONAL 735907 CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal) Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009] 8 8 8 p21 26277396 26296925 - 27317278 27336813 - 27459761 27479296 - 1580863;6480464;7240710;8549510;8554872;8699517 19126755 10336173;12121305;12477932;12783266;15028279;1505988;15996750;16344560;16421571;16826524;17373692;17559419;17602836;18165968;18226955;18384978;18588430;18991851;19058950;19059502;19086053;19156168;19259974;19307444;19383498;20201926;20231857;20301348;20584212;20734064;20736995;21287502;24253422;7570187;7708749;8906617;8996215;9193799 1135 E5RGP6;E5RGT4;E5RHQ4;E5RJ54;E5RK67;Q15822 ABBA01005588;AF311103;AK296348;AK308465;AK314787;AMYH02017672;AW292180;BC153866;CD013901;CH471080;DA096824;DA407151;NG_015827;NM_000742;NM_001282455;U62431;XM_005273397;XM_006716282;XM_006716283;Y16281 AAB40109;AAI53867;BAG59031;CAA76154;EAW63552;NP_000733;NP_001269384;Q15822;XP_005273454;XP_006716345;XP_006716346 Hs.57718 1298260;1797392;7189463 CHRNA2_2606;D8S131 OTTHUMP00000128276;OTTHUMP00000225234;OTTHUMP00000225235;OTTHUMP00000225236;acetylcholine receptor, nicotinic, alpha 2 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal);neuronal acetylcholine receptor subunit alpha-2 APPROVED protein-coding ENSG00000120903 HGNC:1956 00332 118502;610353 REVIEWED 734445 CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010] 15 15 15 q24 55794174 55823924 + 78857862 78887611 + 78565520 78595269 + 1580863;6480464;7240710;8549510;8554872 19126755 10679230;11606319;12477932;12783266;1505988;1542648;15489334;15716100;1572664;16341674;17135278;17373692;17559419;18163978;18165968;18227835;18385676;18385738;18385739;18414406;18450646;18519132;18519524;18559515;18618000;18759969;18780872;18783506;18957677;18978134;18996504;19005185;19010884;19029397;19059502;19086053;19132693;19156168;19223495;19247474;19259974;19300482;19390575;19429911;19436041;19443489;19482438;19577767;19628476;19641473;19671882;19696770;19706762;19733931;19776245;19836008;19859904;19913121;19955392;2004777;20124469;20173748;20201926;20381163;20395203;20418889;20438829;20485328;20548021;20554942;20564069;20581870;20584212;20587604;20624154;20628086;20631687;20643934;20656943;20677014;20685379;20691427;20700147;20725741;20733116;20734064;20736995;20808433;20840187;20854418;20881005;20886544;21168125;21228559;21248747;21321393;21385908;21418140;21436384;21440309;21448929;21559498;21586512;21593077;21646606;21747048;21748402;21764527;21765098;21810735;21858091;21873428;21890473;21906983;21946350;21955800;21963094;22008662;22012472;22017462;22024278;22042234;22080838;22101982;22223462;22241830;22336398;22382680;22382757;22406075;22459873;22461431;22665477;22820273;22832964;22837378;22868939;22884254;22914670;22956269;23000965;23011884;23022100;23029550;23061658;23143843;23221128;23249876;23308091;23314339;23358500;23430818;23458267;23576140;23692359;23729684;23843950;23844051;24184962;24303001;24588897;24733007;24793809;8906617;9009220;9193799;9642271;9655874 1138 H0YK34;H0YM98;H7BYM0;P30532;Q6EWN4 ABBA01060588;AC027228;AF385586;AJ306481;AJ306485;AJ584705;AJ584706;AMYH02030865;BC033639;BC050469;BM839817;CH471136;M83712;NG_023328;NM_000745;U62434;XM_005254142;Y08419 AAA58357;AAB40112;AAH33639;ABM84281;ABM87673;ABW03599;CAA69696;CAC34820;CAE48367;CAE48368;EAW99160;EAW99161;EAW99162;NP_000736;P30532;XP_005254199 Hs.1614;Hs.719767 1674960;1797396;2163412;5015619;5015961;5022322;5024756;5037552 CHRNA5_1914;D11S2560;D11S3114;D15S1477;D8S2279;RH80030;SHGC-36097;STS-M83712 LNCR2 Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5;OTTHUMP00000185019;acetylcholine receptor, nicotinic, alpha 5 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 5;neuronal acetylcholine receptor subunit alpha-5;neuronal nicotinic acetylcholine receptor, alpha5 subunit APPROVED protein-coding ENSG00000169684 HGNC:1959 00334 118505;612052 REVIEWED 733511 CHRNA6 cholinergic receptor, nicotinic, alpha 6 (neuronal) This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010] 8 8 8 p11.21 41555760 41571616 - 42607763 42623929 - 42752620 42768786 - 1580863;6480464;8549510;8554872 19126755 12150770;12195439;12406580;12477932;12537063;15489334;17081983;17207965;17324557;17373692;18055561;18198416;18704094;18940582;18940593;19059502;19086053;19156168;19204725;19259974;19500157;19564872;19698703;20029407;20231857;20418888;20584212;20734064;20736995;20854418;20923852;21831805;21832048;21873428;21917987;22315221;23227187;23899432;24085295;24253422;24792900;24886653;8906617;8950106 8973 E9PP97;Q15825 AB079251;ABBA01021167;AC087533;AK298798;AK313521;AMYH02017908;BC014456;CH471080;DC307404;NM_001199279;NM_004198;U62435;Y16282 AAB40113;AAH14456;ADQ32811;BAC06855;BAG36301;BAG60933;CAA76155;EAW63207;NP_001186208;NP_004189;Q15825 Hs.103128 1670382;1677442;1788706;1797398;2138979 CHRNA6_1902;G17210;RH135820;RH71244;SHGC-5780 CHNRA6 OTTHUMP00000229188;OTTHUMP00000229189;acetylcholine receptor, nicotinic, alpha 6 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 6;neuronal acetylcholine receptor subunit alpha-6 APPROVED protein-coding ENSG00000147434 HGNC:15963 06056 606888 REVIEWED 733287 CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal) This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012] 4 4 4 p14 40778936 40798410 + 40337346 40357234 + 40335329 40355217 + 1580863;6480464;8549510;8554872 19126755 11021840;11076863;11329013;11752216;12477932;12697997;12860975;15489334;15531379;15815621;16314871;17373692;17559419;17567985;17706194;18420419;19059502;19156168;19259974;20229177;20733118;20734064;20953833;21370452;21841780;21963094;22125646;22280835;22774872 55584 Q9UGM1 ABBA01014243;ABBA01014244;AC118275;AF227732;AJ243342;AMYH02009069;AY123244;BC113549;BC113575;BG218331;BP870578;CH471069;NM_017581 AAF61920;AAI11596;AAI13550;AAI13576;AAM74523;AAY40986;ADR83026;CAB65091;EAW92963;NP_060051;Q9UGM1 Hs.272278 1335228;1667014;1670904;1767043;1792484;7186432 D4S405;G33900;PMC151834P1;SHGC-152685;SHGC-7571 HSA243342;MGC142109;MGC142135;NACHRA9 NACHR alpha 9;NACHR alpha-9;OTTHUMP00000125215;acetylcholine receptor alpha 9 subunit (nachr);acetylcholine receptor, neuronal nicotinic, alpha-9 subunit;cholinergic receptor, nicotinic, alpha polypeptide 9;neuronal acetylcholine receptor protein, alpha-9 subunit;neuronal acetylcholine receptor subunit alpha-9;nicotinic acetylcholine receptor subunit alpha 9;nicotinic acetylcholine receptor subunit alpha-9 APPROVED protein-coding ENSG00000174343 HGNC:14079 16092 605116 REVIEWED 736847 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 15 15 15 q14 8162865 8292202 - 32322686 32462384 + 32030483 32170183 + 1300376;1358509;1600992;1580863;6480464;8549510 15465084;15801858;19126755;9012828 10206225;10206240;10336173;10681545;10771023;11150893;11278378;11424985;11455129;11532536;11771745;11803512;11803513;11829490;11840317;11840567;11891308;11891309;11905992;12020960;12049804;12189247;12193385;12214130;12391028;12399955;12431773;12454998;12470124;12477932;12508119;12509811;12549904;12626641;12663058;12748066;12781587;12783266;14569275;14582144;14729237;15046869;15100704;15219869;15226316;15252450;15292665;15494367;15504725;15531077;15807899;15857954;15896732;15927954;16280133;16307758;16314871;16344560;16417613;16461803;16563701;16754836;16822928;16837119;17012261;17012698;17015027;17113175;17192639;17192651;17241116;17286584;17291692;17335853;17373692;17493709;17498763;17504249;17559419;17573436;17709503;17884806;17920082;17978319;17981562;18057084;18071042;18072279;18073210;18078695;18198266;18302933;18307030;18385739;18387948;18393235;18450646;18471073;18545269;18667281;18691158;18696274;18800618;18854154;19038445;19040571;19058789;19059502;19080531;19086053;19136953;19156168;19181484;19259974;19307444;19351547;19367581;19433665;19462340;19506073;19549780;19587288;19623583;19630919;19631623;19666073;19736351;19808646;19896235;19944766;20006992;20231857;20236110;20309583;20463630;20506139;20518839;20584212;20602615;20660165;20691427;20708605;20720594;20728875;20734064;20736995;20864676;20927308;21047781;21051662;21062106;21073885;21390272;21510634;21550667;21610071;21630219;21718690;21790533;21840925;21861625;21969082;21979958;22009746;22031302;22040696;22052086;22084248;22253823;22270376;22300029;22300033;22336089;22342972;22359659;22420046;22420048;22423106;22441542;22483691;22553201;22556416;22577141;22588665;22614008;22775350;22981153;23022323;23275563;23324234;23325242;23431157;23598060;23800261;23802200;23851693;24089524;24155926;24297903;24362025;24391883;24828112;7571003;8145738;8188270;8889549;8906617;8996215;9009220;9193799;9782083 1139 H3BM15;P36544 ABBA01038340;ABBA01038341;AC058803;AC068448;AC079969;AC243734;AC243827;AF029837;AF332758;AF385585;AJ586911;AK292069;AK294229;AY909581;BC037571;BI789267;BM451308;CK903361;DA583811;DQ786262;EF405802;EF405803;EF405804;EF405806;EF405807;EF405808;EF405809;EF405810;EF405811;EF405812;EF405813;EF405814;EF405815;EF405816;EF405817;EF405818;EF405819;EF405820;EF405821;KF456018;KF456023;KF573652;L25827;N54079;NG_009216;NM_000746;NM_001190455;NR_046324;U40583;U62436;X70297;Y08420;Z23141 AAA83561;AAB40114;AAH37571;AAK19515;AAK68111;ABR09427;ABR09428;ABR09429;ABR09430;ABR09431;ABR09432;ABR09433;ABR09434;ABR09435;ABR09436;ABR09437;ABR09438;BAF84758;BAG57531;CAA49778;CAA69697;CAA80672;CAE52911;NP_000737;NP_001177384;P36544 Hs.511772;Hs.713151 1645403;1674139;1684648;1696584;1709212;1724223;1739479;1762109;1774054;2112114;2113848;2113858;2123911;2161475;2170635;2178849;5017979 CHRFAM7A_s9;CHRNA7;D15S1360;D15S610E;D15S937;RH11309;RH121251;RH26807;RH78395;SHGC-12902;SHGC-146010;SHGC-36068;SHGC-78782;SHGC-85789;STS-X70297;UniSTS:479961;WI-19149 CHRNA7-2;NACHRA7 OTTHUMP00000159615;a7 nicotinic acetylcholine receptor;acetylcholine receptor, nicotinic, alpha 7 (neuronal);alpha 7 neuronal nicotinic acetylcholine receptor;alpha-7 nicotinic cholinergic receptor subunit;cholinergic receptor, nicotinic, alpha polypeptide 7;neuronal acetylcholine receptor protein, alpha-7 chain;neuronal acetylcholine receptor subunit alpha-7 APPROVED protein-coding HGNC:1960 00339 118511 REVIEWED 732613 CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] 15 15 15 q24 55821707 55849902 - 78885394 78913637 - 78593052 78621295 - 1599607;1599610;1580863;6480464;7240710;8549510;8554872 12542858;15469883;19126755 10095081;10336173;10771001;11118490;11450844;11606319;11771745;12214130;12477932;12663058;12912995;15489334;15494367;15681842;15716100;1572664;16091357;1689727;1725184;17344216;17373692;17504758;18163978;18227835;18385676;18385738;18385739;18414406;18519524;18618000;18647633;18759969;18780872;18957677;18978787;18978790;18996504;19005185;19010884;19029397;19059502;19132693;19156168;19247474;19259974;19300482;19429911;19506133;19628475;19628476;19641473;19654303;19671882;19696770;19706762;19733931;19834535;19836008;19859904;1989896;19955392;20007924;20043866;2004777;20068085;20173748;20201926;20234319;20393456;20395203;20418888;20418889;20418890;20426799;20485328;20554942;20564069;20584212;20587604;20631687;20643934;20656943;20685379;20712524;20725741;20734064;20736995;20808433;20840187;20886544;21081471;21168125;21228559;21248747;21312287;21385908;21436384;21486776;21511889;21536845;21559498;21593077;21623257;21646606;21690317;21747048;21748402;21765098;21810735;21858091;21946350;22017462;22024278;22042234;22080838;22101982;22223462;22241830;22274960;22280835;22336398;22356581;22382757;22441734;22459873;22461431;22701590;22722785;22837378;22914670;22956269;23022100;23023782;23029550;23056235;23061658;23143843;23207642;23251661;23255854;23284291;2336208;23458267;23604333;23626818;23689675;23692359;23701534;23710919;23729684;23844051;23884938;24588897;7490471;7850023;8878111;8889548;8906617;8987816;9009220;9387186;9624109;9804613;9921897 1136 H0YNF9;P32297 ABBA01060588;ABBA01060589;AC027228;AC067863;AF385584;AI833126;AJ007783;AJ007784;AJ007785;AJ007786;AJ007787;AJ584707;AJ584708;AJ584709;AK298195;AMYH02030865;BC000513;BC001642;BC002996;BC006114;BC098443;BM666615;BT006646;BT006897;CH471136;M37981;NG_016143;NM_000743;NM_001166694;NR_046313;U62432;X53559;XM_006720382;Y08418 AAA59942;AAB40110;AAH00513;AAH01642;AAH02996;AAH06114;AAH98443;AAK68110;AAP35292;AAP35543;BAG60465;CAA07682;CAA37625;CAA69695;CAE48369;CAE48370;CAE48371;EAW99156;EAW99157;EAW99158;EAW99159;NP_000734;NP_001160166;P32297;XP_006720445 Hs.89605 1674960;1683449;1716437;1795562;1797396;2163412;2220334 CHRNA3;CHRNA3_541;CHRNA5_1914;RH121399;RH98633;SHGC-36097;STS-M83712 LNCR2;MGC104879;NACHRA3;PAOD2 OTTHUMP00000185024;OTTHUMP00000185025;acetylcholine receptor, nicotinic, alpha 3 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 3;neuronal acetylcholine receptor subunit alpha-3;neuronal nicotinic acetylcholine receptor, alpha3 subunit APPROVED protein-coding ENSG00000080644 HGNC:1957 07511 118503;612052 REVIEWED 733898 CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7374294 7386883 + 7348406 7360932 + 7445087 7457613 + 704404;1580863;6480464;7240710;8549510;8549508;8554872;8699517 19126755;23032192 10562302;10662545;11104662;12477932;1397297;15489334;16169070;16280586;16874522;17015027;17373692;18179903;19086053;19259974;19279256;19307444;20301347;20584212;20734064;20736995;2221824;22406075;23000965;24240098;2740233;8651643;887246;8872460 1140 I3L1T7;I3L3Q9;I3L4N5;I3L535;P11230 ABBA01054866;ABBA01054867;ABBA01054868;AC113189;AK294880;AK298938;AK308106;AMYH02032901;AMYH02032902;AMYH02032903;BC011371;BC023553;CH471108;NG_008026;NM_000747;X14830 AAH11371;AAH23553;ABM85567;BAH11912;BAH12907;CAA32939;EAW90186;NP_000738;P11230 Hs.330386 1647967;1666308;1677983;1741913;1741915;1797528;2120022;2166029;2181755;5020242;5037552 AFM238WF2;D11S2612;D8S2279;FGF11_2203;G30483;GDB:186812;GDB:186817;IB1796;RH78385;STS-W57641;STS-X14830 ACHRB;CHRNB;CMS1D;CMS2A;FLJ57107;SCCMS OTTHUMP00000135278;acetylcholine receptor subunit beta;acetylcholine receptor, nicotinic, beta 1 (muscle);cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) APPROVED protein-coding ENSG00000170175 HGNC:1961 01156 100710;601462;608931 REVIEWED 732764 CHRNB4 cholinergic receptor, nicotinic, beta 4 (neuronal) ENCODES a protein that exhibits acetylcholine receptor activity; INVOLVED IN signal transduction; synaptic transmission involved in micturition; PARTICIPATES IN acetylcholine signaling pathway via nicotinic acetylcholine receptor; ASSOCIATED WITH Melanoma (inferred); FOUND IN acetylcholine-gated channel complex; INTERACTS WITH (S)-nicotine; 1,1-dimethyl-4-phenylpiperazinium iodide; 17alpha-ethynylestradiol 15 15 15 q24 55852898 55869734 - 78916636 78933587 - 78624294 78641245 - 1580863;6480464;8549510;8554872 19126755 10336173;11118490;11181995;11450844;11606319;11742001;12150770;12477932;12663058;12783266;12912995;1330682;1505988;15489334;1572664;15742216;16091357;16826524;1689727;1725184;17373692;18163978;18385738;18385739;18414406;18519524;18618000;18759969;18780872;18996504;19029397;19059502;19086053;19156168;19259974;19429911;19628475;19628476;19671882;19696770;19706762;19859904;2004777;20201926;20418889;20426799;20485328;20554942;20584212;20587604;20631687;20685379;20734064;20736995;20808433;20886544;21107856;21168125;21228559;21248747;21343288;21436384;21486776;21646606;21658281;21747048;21917987;22024278;22042234;22042774;22101982;22241830;22336398;22382680;22382757;22438940;22459873;22543065;22945651;22956269;23029550;23061658;23143843;23349463;23458267;23626818;23691088;23692359;23729684;23844051;23884938;24085295;7571003;8906617;8987816;8996215;9009220;9193799;9203638;9655874;9693793 1143 H0YM29;H3BU02;P30926 ABBA01060589;ABBA01060590;AC067863;AF306329;AF453877;AJ306454;AK310443;AMYH02030865;BC096080;BC096081;BC096082;BC096083;CH471136;NM_000750;NM_001256567;U48861;U62439;X68275;Y08416 AAA92123;AAB40117;AAH96080;AAH96081;AAH96082;AAH96083;AAL02062;AAL57840;CAA48336;CAA69693;CAC34819;EAW99153;EAW99154;NP_000741;NP_001243496;P30926 Hs.624178 1673538;2136296;2161813 RH47011;RH70650;STS-U48861 OTTHUMP00000185021;acetylcholine receptor, nicotinic, beta 4 (neuronal);cholinergic receptor, nicotinic, beta polypeptide 4;neuronal acetylcholine receptor subunit beta-4;neuronal nicotinic receptor beta 4 subunit APPROVED protein-coding ENSG00000117971 HGNC:1964 00337 118509 VALIDATED 733218 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127611891 127623988 + 154540257 154552354 + 154567781 154580026 + 704404;737782;1580863;737811;6480464;7240710;8549510;8554872;8699517 10064590;11104662;19126755 10441742;10771020;11054772;11062464;11261808;11771745;11906688;11952766;12185808;12189247;12202488;12214130;12477932;12663058;12681012;1397297;15026168;15033200;15046869;1505988;15154117;15489334;15681842;15944128;15964197;16023355;16174636;16183856;16238698;16314871;16407231;16636791;16928859;17192785;17226798;17373692;17385675;17559419;17900292;18043764;18226955;18242781;18534558;18534914;18593715;18762859;18830724;18991851;19058950;19059502;19063970;19086053;19101612;19156168;19259974;19279256;19482438;19620239;19755656;19874574;20231857;20301348;20371741;20413850;20441771;20534741;20574532;20603624;20649589;20677014;20734064;20736995;20854418;20880607;20881005;20923852;20943775;21252231;21287502;21396349;21451042;21536845;21606948;21757735;22359659;22553201;23000369;23037950;23429692;23437071;23734673;2377478;24850280;8906617;8987816;9009220;9921897 1141 P17787;Q5SXY3 ABBA01049490;AF077186;AF174495;AJ001935;AJ001936;AJ001937;AJ001938;AJ001939;AK313470;AL592078;AMYH02001927;AX719090;BC075040;BC075041;CH471121;NG_008027;NM_000748;R40506;U62437;X53179;XM_006711143;Y08415 AAB40115;AAD45422;AAH75040;AAH75041;BAG36255;CAA05108;CAA37320;CAA69692;CAD88996;EAW53192;NP_000739;P17787;XP_006711206 Hs.2306 1771242;1795244;2145004;2147446;2158928;2183223 CHRNB2_23;RH46993;RH70833;STS-R37134;STS-U62437;WI-19921 EFNL3;nAChRB2 OTTHUMP00000035374;acetylcholine receptor, nicotinic, beta 2 (neuronal);beta2 human neuronal nicotinic acetylcholine receptor;cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal);neuronal acetylcholine receptor subunit beta-2;neuronal nicotinic acetylcholine receptor beta 2 APPROVED protein-coding ENSG00000160716 HGNC:1962 00335 118507;605375 REVIEWED 10356 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 20 20 20 q13.33 58652104 58670128 - 61974662 62009487 - 63343310 63361396 - 704405;704387;1580863;1642301;6480464;7240710;8549510;8554872;8699517 11904236;16497176;19126755 10563623;11261808;11352901;11409698;11771745;11780052;12121305;12185808;12189247;12202488;12214130;12477932;12556914;12565129;12663058;12681012;12781587;12782394;12887442;12887446;14623738;1492743;15046869;1505988;15154117;15717291;15790597;15902904;15944128;16023355;16091357;16174636;16183856;16205844;16238698;16332175;16344560;16407231;16456787;16608406;16636791;16825297;16869227;17226798;17373692;17385675;17488453;17504247;17559419;17590520;17613539;17768273;17948872;17955458;17977823;17981562;18042647;18043764;18226955;18298895;18534558;18691652;18762859;18821565;18937294;18991851;19016604;19020039;19058789;19058950;19059502;19063970;19101612;19156168;19259974;19290018;19300482;19336370;19352218;19429020;19482438;19484724;19498063;19506906;19577488;19620239;19628475;19693267;19698703;19803686;19874574;19896235;20189461;20201926;20231857;20301348;20331911;20493238;20584212;20634891;20649589;20734064;20736995;20881005;20943775;21130611;21203548;21252231;21321393;21343288;21396349;21432576;21445957;21451042;21500914;21593077;21683344;21740768;21753767;21757735;21821135;21900206;22008229;22103306;22118295;22119468;22253823;22359659;22373960;22553201;22722381;22760121;22873564;22947540;23000369;23037950;23240931;23349463;23350800;23429692;23437071;2351675;23553665;23720086;23731290;23734673;23843950;24327142;24385388;24498031;24850280;7550350;7647781;7721089;7806245;8833159;8889548;8906617;8987816;9009220 1137 B4DK78;H0YBH1;P43681;Q4VAQ3;Q59FV0 ABBA01021394;AK296430;AK314907;AL121827;AMYH02037454;AMYH02037455;AY816234;AY878243;AY878244;BC096290;BC096291;BC096292;BC096293;BM710937;CH471077;DA530118;DQ093071;L35901;NG_011931;NM_000744;NM_001256573;NR_046317;U62433;X87629;X89741;X89742;X89743;X89744;X89745;X89746;XM_005260191;Y08421 AAA64743;AAB40111;AAH96290;AAH96291;AAH96292;AAH96293;AAV66461;AAW81038;AAW81039;AAY88737;BAG59090;CAA60959;CAA61893;CAA69698;EAW75269;EAW75270;NP_000735;NP_001243502;P43681;XP_005260248 Hs.10734 1666466;1677993;1678487;1681259;1686859;1688704;1797394 CHRNA4_1625;D20S127E;RH12050;RH64135;RH70691;RH75305;RH78607 BFNC;EBN;EBN1;FLJ95812;NACHR;NACHRA4;NACRA4 OTTHUMP00000031784;acetylcholine receptor, nicotinic, alpha 4 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 4;neuronal acetylcholine receptor subunit alpha-4;neuronal nicotinic acetylcholine receptor alpha-4 subunit APPROVED protein-coding ENSG00000101204 HGNC:1958 00333 118504;188890;600513 REVIEWED 734106 CHRNE cholinergic receptor, nicotinic, epsilon (muscle) Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009] 17 17 17 p13.2 4815945 4821250 - 4801064 4806369 - 4897769 4903074 - 704404;1580863;6480464;7240710;8549510;8549508;8554872;8699517 19126755;23032192 10211467;10514102;10534268;10719961;10962020;11030414;12087176;12562900;14532324;14592868;14981744;15322984;15367858;15652413;16087917;16198106;16527851;1712080;17272341;17304221;17363247;18657869;19059502;19064877;19086053;19259974;19544078;20301347;20734064;20864527;21150643;21175599;21470676;21715663;22178625;7531341;7538206;7688301;7902325;7958418;8232384;8755487;8872460;8957026;9158150 1145 Q04844;Q8N731 AB070507;ABBA01054780;ABBA01054781;AC109333;AC233723;AF105999;AI041890;AMYH02032836;CH471108;NG_008029;NM_000080;X66403 AAD24503;AAI56078;AAI57044;BAB97270;CAA47030;EAW90394;EAW90395;EAW90396;NP_000071;Q04844 Hs.654535 1675505;2122387;2167048;5095183 CHRNE;RH76075;SHGC-11989;WI-19144 CMS1D;CMS1E;CMS2A;FCCMS;SCCMS ACHRE;AchR epsilon subunit;OTTHUMP00000216307;acetylcholine receptor subunit epsilon;acetylcholine receptor, nicotinic, epsilon (muscle);cholinergic receptor, nicotinic, epsilon polypeptide APPROVED protein-coding ENSG00000108556 HGNC:1966 00008 100725;601462;608930;608931 REVIEWED 1347400 CHRNB3 cholinergic receptor, nicotinic, beta 3 (neuronal) The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010] 8 8 8 p11.2 41499567 41540205 + 42552562 42592209 + 42697419 42737066 + 1580863;6480464;8549510;8554872 19126755 10336173;11118490;12477932;12783266;12912995;1505988;15489334;16314871;17135278;17158188;17207965;17373692;17559419;18055561;18704094;19059502;19086053;19156168;19259974;19482438;19500157;19760673;20231857;20418888;20584212;20734064;20736995;20840187;20854418;20923852;21191315;21606657;21831805;22315221;22524403;23899432;24792900;7571003;7690916;8088849;8906617;9009220;9193799;9624109 1142 Q05901 ABBA01021163;ABBA01021164;ABBA01021165;ABBA01021166;ABBA01021167;AC087533;AC090739;AC103843;AF140765;AMYH02017905;AMYH02017906;AMYH02017907;BC069681;BC069703;BC069788;CH471080;NM_000749;U62438;X67513;Y08417 AAB40116;AAD33063;AAH69681;AAH69703;AAH69788;ADQ31924;CAA47851;CAA69694;EAW63208;NP_000740;Q05901 Hs.654576 1734110;1797400;1854051 CHRNB3_2327;D8S1209;D8S1981 OTTHUMP00000229136;acetylcholine receptor, neuronal nicotinic, beta-3 subunit;acetylcholine receptor, nicotinic, beta 3 (neuronal);cholinergic receptor, nicotinic, beta polypeptide 3;neuronal acetylcholine receptor subunit beta-3 APPROVED protein-coding ENSG00000147432 HGNC:1963 00336 118508 VALIDATED 733359 CHRND cholinergic receptor, nicotinic, delta (muscle) The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Feb 2012] 2 2 2 q37.1 227155237 227164520 + 233390870 233401375 + 232526160 232536665 + 704404;1580863;6480464;7240710;8549510;8549508;8554872;8699517 19126755;23032192 11435464;11782989;12477932;12499478;14735155;15028279;15489334;15815621;18179903;18252226;18398509;18625075;19010793;19059502;19086053;19259974;20201926;20301347;20584212;20734064;20840187;2221824;23448903;24240098;25080583;2564429;7695910;8103404;8872460;8910344;8987816;9668219 1144 B4DKT6;B4E3W4;C9JJV8;F8WB46;F8WBS0;Q07001 ABBA01002018;AC092165;AK291526;AK296704;AK300109;AK304890;AK315297;AMYH02005988;BC093923;BC093925;CD013895;CH471063;NG_008028;NM_000751;NM_001256657;NR_046333;NR_046334;X55019 AAH93923;AAH93925;AAY24102;BAF84215;BAG37703;BAG59298;BAG61904;BAG65626;CAA38759;EAW71003;NP_000742;NP_001243586;Q07001 Hs.156289 1744253;2157698 D2S2727;GDB:439020 ACHRD;CMS2A;FCCMS;SCCMS OTTHUMP00000164360;acetylcholine receptor subunit delta;acetylcholine receptor, nicotinic, delta (muscle);cholinergic receptor, nicotinic, delta polypeptide APPROVED protein-coding ENSG00000135902 HGNC:1965 01516 100720;253290;601462;608930 REVIEWED 732695 CHRNG cholinergic receptor, nicotinic, gamma (muscle) The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009] 2 2 2 q37.1 227168752 227175352 + 233404424 233411038 + 232539727 232546328 + 704404;1580863;6480464;7240710;8549508;8549510;8554872;8699517 19126755;23032192 12477932;14702039;15815621;16435141;16826520;16826531;18502212;18625075;18988640;19059502;19086053;19259974;1981051;20584212;20734064;22167768;23396134;23448903;2630182;3967651;7688301;7695910;8040310 1146 P07510 ABBA01002018;AC092165;AK125362;AK309340;AMYH02005988;BC111802;CH471063;NG_012954;NM_005199;X01715;X01716;X01717;X01718;X01719;X01720;X01721;X04759 AAI11803;AAY24103;BAG54190;CAA25861;EAW71004;EAW71005;NP_005190;P07510 Hs.248101 1682231 RH80272 ACHRG;MGC133376 OTTHUMP00000203703;OTTHUMP00000203704;acetylcholine receptor subunit gamma;acetylcholine receptor, muscle, gamma subunit;acetylcholine receptor, nicotinic, gamma (muscle);cholinergic receptor, nicotinic, gamma polypeptide APPROVED protein-coding ENSG00000196811 HGNC:1967 00009 100730;253290;265000 REVIEWED 1347829 CHST13 carbohydrate (chondroitin 4) sulfotransferase 13 The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011] 3 3 3 q21.3 124668006 124686803 + 126243131 126262134 + 126524288 126543291 + 1580863;6480464;6907045 10781601;12080076;12477932;18976975;20580388 166012 Q3SYA3;Q8NET6 ABBA01016388;ABBA01016389;AC024558;AMYH02007589;AMYH02007590;AY120869;BC039390;BC045257;BC047236;BC103895;BC103896;BC103897;CH471052;DR006930;NG_029855;NM_152889 AAH39390;AAH47236;AAI03896;AAI03897;AAI03898;AAM55481;EAW79359;NP_690849;Q8NET6 Hs.292375 1685465 RH99101 C4ST-3;C4ST3;MGC119278;MGC119279;MGC119281 OTTHUMP00000222583;carbohydrate sulfotransferase 13;chondroitin 4-O-sulfotransferase 3;chondroitin 4-sulfotransferase 3 APPROVED protein-coding ENSG00000180767 HGNC:21755 13057 610124 REVIEWED 1318147 CHST11 carbohydrate (chondroitin 4) sulfotransferase 11 The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 12 12 12 q 104515392 104820429 + 104850692 105155792 + 104456914 104762014 + 1580863;6480464;6907045;8554872 10722746;10737800;10781601;11056388;12477932;12847091;14702039;15273723;15324304;15489334;15628971;16344560;17207965;19240061;19937589;19946888;20080650;20379614;20580388;21123170;21658254;21668797;22317973;23251661;8619474;9110174 50515 F8VRG6;F8VXK3;F8VXK7;Q9NPF2 AB042326;ABBA01053191;ABBA01053192;ABBA01053193;AC010191;AC073917;AC079316;AC126473;AF131762;AF239820;AJ269537;AJ289134;AK123676;AK290923;AK313217;AL833176;AMYH02027099;AMYH02027100;AMYH02027101;AMYH02027102;AMYH02027103;AMYH02027104;AY533204;AY533205;BC013315;BC030271;BC061524;CH471054;DA853534;KF455715;KF455717;NG_029810;NM_001173982;NM_018413 AAF81691;AAH13315;AAU87522;AAU87523;ADQ31678;BAA95485;BAF83612;CAB87380;CAB92134;EAW97748;EAW97749;EAW97750;NP_001167453;NP_060883;Q9NPF2 Hs.17569 1335704;1697008;1703586;1704908;1711926;1746359;1746809;1751585;1752347;1782654;1782716;1782718;2124220;2126228;2147421;2173167;2173570;5090999;5115268 D12S1075;D12S1647;G49574;G64600;G64840;RH101978;RH15762;RH70385;SHGC-105583;SHGC-106247;SHGC-149540;SHGC-155530;SHGC-155531;SHGC-17242;SHGC-64736;SHGC-79931;WI-15690;WI-16091;WI-18674 C4S-1;C4ST;C4ST-1;C4ST1;DKFZp667A035;FLJ41682;HSA269537 IgH/CHST11 fusion;OTTHUMP00000242139;OTTHUMP00000242140;carbohydrate sulfotransferase 11;chondroitin 4-O-sulfotransferase 1;chondroitin 4-sulfotransferase 1 APPROVED protein-coding ENSG00000171310 HGNC:17422 13055 610128 REVIEWED 1602484 CHST15 carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] 10 10 10 q26 119471685 119510727 - 125765669 125853200 - 124006155 124093684 - 6480464;6907045 10749872;11032940;11073942;11572857;12477932;12874280;15164054;15489334;16024005;16385451;21906983;23349846;3082866;8889548;9628581;9754571 51363 B4DH74;Q7LFX5 AB011170;AB025341;AB062423;ABBA01016370;ABBA01016371;ABBA01016372;AF026477;AK294961;AK299546;AL683842;AMYH02023972;BC027908;BC050540;BC075813;BM193389;BM977716;CH471066;CR749804;NG_032891;NM_001270764;NM_001270765;NM_014863;NM_015892;XM_005269891;XM_005269892;XM_005269893;XM_005269894;XM_006717891 AAC71691;AAH27908;AAH50540;AAH75813;BAA25524;BAA83686;BAB72145;BAG58035;BAG61492;CAH18664;EAW49273;EAW49274;EAW49275;EAW49276;NP_001257693;NP_001257694;NP_055678;NP_056976;Q7LFX5;XP_005269948;XP_005269949;XP_005269950;XP_005269951;XP_006717954 Hs.287537;Hs.745222 1673819;1703232;1770077;1772486;2109337;2116712;2132697;2139904;2177738;7185084 A002S44;D10S1370E;D10S244E;GALNAC4S-_6ST_9710;RH11172;RH78536;SGC32446;SHGC-31812;STS-M78348 BRAG;DKFZp781H1369;GALNAC4S-6ST;KIAA0598;MGC34346;RP11-47G11.1;hBRAG B cell RAG associated protein (GALNAC4S-6ST);B-cell RAG-associated gene protein;N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase;OTTHUMP00000020689;carbohydrate sulfotransferase 15 APPROVED protein-coding ENSG00000182022 HGNC:18137 12203 608277 REVIEWED 1317743 CHST1 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011] 11 11 11 p11.2 45817781 45834528 - 45669239 45687206 - 45647689 45665656 - 1580863;6480464;6907045;8554872 10049591;10330415;10528213;10642612;11310842;12477932;1433500;15324304;15489334;16189514;16344560;16495484;17690104;18698629;18854154;18976975;19343046;21041608;21880669;21988832;22260995;8419650;9117134;9405439;9639683 8534 O43916 AB003791;ABBA01060761;AC087442;AF090137;AI793094;AK311168;AMYH02024693;AY339617;BC022567;BC028235;BI917296;CH471064;DA193787;DB493321;NG_029811;NM_003654;U65637;XM_006718356;XM_006718357;XR_428858 AAC28776;AAD19878;AAH22567;AAH28235;AAP88041;BAA24840;EAW68034;EAW68035;EAW68036;EAW68037;EAW68038;EAW68039;NP_003645;O43916;XP_006718419;XP_006718420 Hs.104576 1698494;2134543;2144898;5037552 D8S2279;RH102797;RH12401;RH12643 C6ST;GST-1;KS6ST;KSGal6ST;KSST OTTHUMP00000233116;carbohydrate (chondroitin 6/keratan) sulfotransferase 1;carbohydrate sulfotransferase 1;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 1;keratan sulfate Gal-6 sulfotransferase APPROVED protein-coding HGNC:1969 07051 603797 REVIEWED 1353236 CHST10 carbohydrate sulfotransferase 10 This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011] 2 2 2 q11.2 95212945 95238710 - 101008322 101034130 - 100391860 100417668 - 1580863;6480464;6907045;8554872 10464296;12080076;12477932;1433500;15489334;16344560;19470764;20950796;21828042;21988832;22020094;22268729;22801424;22990118;8419650;8619474;9110174;9478973 9486 B8ZZ48;C9J5X0;C9JCK7;C9JI33;C9JUE4;C9JWY0;O43529 ABBA01073933;AC012493;AF003827;AF033827;AF070594;AK297267;AK313241;AMYH02004413;AU124707;BC010441;BU849869;CH471127;CS255950;DA522916;DA732392;HI968225;NG_028153;NM_004854 AAC04707;AAC28651;AAH10441;AAX93044;ABM81990;ABM85171;BAG36052;BAH12534;CAJ75915;CBY88424;EAX01841;EAX01842;EAX01843;EAX01844;NP_004845;O43529 Hs.516370;Hs.731724 1664708;1734960;1855864;2136434;2166344;2166346;2182981 A004V45;A005U12;D2S1711E;G20503;STS-W80636;WI-19927;WI-21792 HNK-1ST;HNK1ST;MGC17148 HNK-1 sulfotransferase;OTTHUMP00000161254;OTTHUMP00000203188;huHNK-1ST APPROVED protein-coding ENSG00000115526 HGNC:19650 07332 606376 REVIEWED 1317861 CHST12 carbohydrate (chondroitin 4) sulfotransferase 12 The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011] 7 7 7 p22 2412652 2443589 + 2443195 2474242 + 2403560 2434607 + 1580863;6480464;6907045 10781601;12477932;12690205;12847091;12975309;15489334;16344560;17353931;19946888;20580388;21833088;22505724;24250222;8125298 55501 C9J991;Q9NRB3 ABBA01039373;AC004840;AF239822;AJ289131;AK223191;AK223211;AK313484;AMYH02015069;AMYH02015070;AY358574;BC002918;BC015954;BC095492;CH236953;CH471144;DA078292;DA704587;NG_029854;NM_001243794;NM_001243795;NM_018641 AAF81692;AAH02918;AAH95492;AAQ88937;ABM83895;ABM87216;BAD96911;BAD96931;BAG36268;CAB92133;EAL23955;EAW87243;EAW87244;EAW87245;NP_001230723;NP_001230724;NP_061111;Q9NRB3 Hs.744987 1697884;1770575;2132014;2218380 CHST12_4572;GDB:1317144;RH102470;WI-15817 C4S-2;C4ST-2;C4ST2 OTTHUMP00000025467;OTTHUMP00000201074;carbohydrate sulfotransferase 12;chondroitin 4-O-sulfotransferase 2;chondroitin 4-sulfotransferase 2;sulfotransferase Hlo APPROVED protein-coding ENSG00000136213 HGNC:17423 13056 610129 REVIEWED 1348543 CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010] 15 15 15 q15.1 17529304 17531501 + 40763160 40765357 + 40470961 40473158 + 737633;6480464;6907045;7240710;8554872;8699517 12477932 11470797;12847091;12975309;14702039;15489334;16303743;17207965;18976975;19199708;19661164;20004762;20533528;20842734;21309034;22581468;22797925 113189 H0YN65;Q8NCH0 AB066595;ABBA01038449;AC013356;AF282905;AF401222;AK074739;AMYH02030241;AY358446;BC009883;BC023653;BC049214;BC053633;CH471125;CR997569;NG_017074;NM_130468 AAH23653;AAH49214;AAH53633;AAK69530;AAK92532;AAQ88811;ADQ32628;BAB84097;BAC11172;EAW92419;NP_569735;Q8NCH0 Hs.442449 1675650 RH91091 ATCS;D4ST-1;D4ST1;EDSMC1;HD4ST;HNK1ST OTTHUMP00000160446;carbohydrate sulfotransferase 14;dermatan 4 sulfotransferase 1 APPROVED protein-coding HGNC:24464 16780 601776;608429 REVIEWED 1352183 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] 10 10 10 q22.1 67007692 67056893 + 73724120 73773322 + 71964362 72013564 + 1600853;6480464;6907045;7240710;8554872;8699517 15215498 11056388;11696535;12477932;1433500;15489334;16344560;16385451;18398821;18513679;18697746;19320654;19322201;19343046;20301308;20301725;20830804;21882400;21963094;22246436;24216480;24300290;8419650;9714738;9883891 9469 Q7LGC8 AB012192;AB017915;ABBA01020367;AC022392;AC073370;AI041015;AK025251;AMYH02023305;BC033183;BC093690;BC104856;BG325090;CH471083;DA223095;DB289525;NG_012635;NM_004273;XM_006718075 AAH93690;AAI04857;BAA32576;BAA36348;EAW54440;NP_004264;Q7LGC8;XP_006718138 Hs.158304 1334637;2158800;7185034 D10S218;RH65787 C6ST;C6ST-1;C6ST1;GST-0;HSD OTTHUMP00000019779;carbohydrate sulfotransferase 3;chondroitin 6-O-sulfotransferase 1;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0 APPROVED protein-coding ENSG00000122863 HGNC:1971 07052 143095;603799 REVIEWED 1603314 CHST5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 The protein encoded by this gene belongs to the Gal/GalNAc/GlcNAc 6-O-sulfotransferase (GST) family, members of which catalyze the transfer of sulfate to position 6 of galactose (Gal), N-acetylgalactosamine (GalNAc), or N-acetylglucosamine (GlcNAc) residues within proteoglycans, and sulfation of O-linked sugars of mucin-type acceptors. Carbohydrate sulfation plays a critical role in many biologic processes. This gene is predominantly expressed in colon and small intestine. [provided by RefSeq, Aug 2011] 16 16 16 q22.3 59856732 59863372 - 75562428 75570180 - 75528530 75535170 - 6480464 10491328;11017086;11352640;12107080;12218059;12477932;12626414;12855678;12975309;1433500;14702039;17207965;17690104;19343046;19844255;20453000;8419650 23563 H3BMG8;Q9GZS9 ABBA01017057;AC009163;AC025287;AF176839;AF219991;AF246718;AMYH02032404;BC147002;BC147007;BX282540;CH471114;NG_029853;NM_024533 AAD56001;AAG26326;AAG28023;AAI47003;AAI47008;ADQ32550;EAW95635;EAW95636;NP_078809;Q9GZS9 Hs.745424 2110315;5022578;5022651;5037552 CHST5_9373;D11S2921;D1S1423;D8S2279 FLJ22167;I-GlcNAc-6-ST;I-GlcNAc6ST;MGC74625;glcNAc6ST-3;gn6st-3;hIGn6ST GST4-alpha;N-acetylglucosamine 6-O-sulfotransferase 3;OTTHUMP00000174950;carbohydrate sulfotransferase 5;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-alpha;intestinal GlcNAc-6-sulfotransferase;intestinal N-acetylglucosamine-6-O-sulfotransferase APPROVED protein-coding ENSG00000135702 HGNC:1973 07059 604817 REVIEWED 1315916 CHST2 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen. [provided by RefSeq, Aug 2011] 3 3 3 q24 141262068 141265212 + 142838618 142842856 + 143119776 143124014 + 1580863;6480464;6907045 10049591;10528213;11042394;11056388;11310842;11726653;12477932;12501187;12855678;1433500;14702039;15220337;15489334;15632306;16897186;19343046;19571171;19898482;20677014;21041608;8419650;9712885;9722682 9435 Q9Y4C5;V9HVX9 AB014679;AB014680;AB021124;AB021125;ABBA01059015;AC018450;AF083066;AK023268;AMYH02007826;BC017499;BC036930;BC042160;BC068604;BC105010;BC105012;BX387933;CA431595;CH471052;EU668328;NG_029828;NM_004267 AAD20981;AAI05011;AAI05013;ACE86823;ACE87509;ACF94481;BAA34265;BAA34266;BAB16886;BAB16887;BAG51179;EAW78952;EAW78953;NP_004258;Q9Y4C5 Hs.529249;Hs.8786 1792770;2107935;2136007;2172884;2183241;5493111 1706;CHST2_8939;D3S4181;PMC16366P2;STS-AA035651;UniSTS:484341 C6ST;GST-2;GST2;Gn6ST-1;HEL-S-75;glcNAc6ST-1 N-acetylglucosamine 6-O-sulfotransferase 1;OTTHUMP00000215002;carbohydrate (chondroitin 6/keratan) sulfotransferase 2;carbohydrate sulfotransferase 2;epididymis secretory protein Li 75;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 2 APPROVED protein-coding ENSG00000175040 HGNC:1970 04814 603798 REVIEWED 1319067 CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] 19 19 19 q13.1 30806474 30958041 + 34112861 34264414 + 33621955 33773509 + 1580863;6480464;8554872 10988300;11001942;11445554;12477932;1433500;15489334;15632154;16079414;19079260;20379614;20816195;21107309;22289416;23377640;8419650 64377 K7ENM3;Q9H2A9 AB047801;ABBA01004313;ABBA01004314;ABBA01004315;ABBA01004316;AC005615;AC007205;AC008994;AC010510;AC011519;AF300612;AF305781;AMYH02035938;AMYH02035939;AMYH02035940;AMYH02035941;BC011380;BC014250;BC018723;BI917117;BX354555;DB500322;KC877722;KF511262;NG_029857;NM_001127895;NM_001127896;NM_022467 AAG39444;AAH11380;AAH14250;AAH18723;AAL09373;ABM82364;ABM85540;BAB19806;NP_001121367;NP_001121368;NP_071912;Q9H2A9 Hs.165724 1338189;1719375;1758849;1783212 D19S213;RH123415;SHGC-151083;SHGC-152049 GALNAC4ST1;GalNAc4ST GALNAC-4-ST1;GalNAc-4-O-sulfotransferase 1;N-acetylgalactosamine-4-O-sulfotransferase 1;carbohydrate sulfotransferase 8;galNAc4ST-1 APPROVED protein-coding ENSG00000124302 HGNC:15993 07632 610190 REVIEWED 1342606 CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010] 16 16 16 q22 59801332 59823234 - 75507022 75528926 - 75473124 75495028 - 1580863;6480464;6907045;7240710;8554872;8699517 10913333;11017086;11087716;11139648;11181564;11278593;11352640;11818380;12218059;12477932;12824236;12882769;12882775;12883341;1433500;14609920;14735064;14984470;15013869;15220337;15489334;15652851;15953452;16207214;16568029;17093400;17846354;17896316;17962390;18500531;18849568;19204788;19223992;19365571;19844255;20539220;21242781;21887843;22261655;8419650;8644739 4166 Q9GZX3 ABBA01058135;AC009163;AF219991;AF280086;AMYH02032401;AMYH02032402;BC036640;BC041645;BC074834;BC074883;CH471114;NG_016442;NM_021615;XM_005255955 AAG26327;AAG48244;AAH74834;AAH74883;EAW95640;EAW95641;NP_067628;Q9GZX3;XP_005256012 Hs.655622 1760901;2110317;5014019;5015861;5015869;5016596;5020414;5020946;5022425;5022578;5024413;5024761;5037552;7185938 CHST6_8463;D10S16;D1S1423;D22S296;D5S2354;D8S2279;GDB:313261;GDB:631802;L17688;L17877;L17971;RH36905;SHGC-144645 MCDC1 C-GlcNAc6ST;GST4-beta;N-acetylglucosamine 6-O-sulfotransferase 5;OTTHUMP00000174952;carbohydrate sulfotransferase 6;corneal N-acetylglucosamine 6-sulfotransferase;corneal N-acetylglucosamine-6-O-sulfotransferase;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta;glcNAc6ST-5;gn6st-5;hCGn6ST APPROVED protein-coding ENSG00000183196 HGNC:6938 05597 217800;605294 REVIEWED 1316417 CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011] 18 18 18 q11.2 21305768 21575711 - 24494554 24765302 - 26914590 27185338 - 6480464;8554872 11139592;11445554;12477932;12975309;1433500;14702039;15489334;21156230;23259602;23535729;23897914;8419650 83539 Q7L1S5 ABBA01022565;ABBA01022566;ABBA01022567;ABBA01022568;AC010854;AC023575;AC116017;AF239821;AF332472;AF332473;AJ707539;AK093349;AK124319;AMYH02034460;AMYH02034461;AMYH02034462;AY358488;BC025764;BI710997;BM919514;BX119554;CH471088;DB444451;NG_029856;NM_001256316;NM_031422;XM_005258362;XM_006722555 AAH25764;AAK01862;AAK30369;AAK30370;AAQ88852;BAC04141;EAX01232;EAX01233;EAX01234;NP_001243245;NP_113610;Q7L1S5;XP_005258419;XP_006722618 Hs.44584;Hs.706552 1649427;1681090;1706356;1706660;1730455;1744373;1760689;2114280;2135543;2136170;5022588;5491721 D4S295;D4S466;D5S1597E;G31028;GDB:452617;L00832;RH125773;RH92179;SHGC-144226;SHGC-80745;SHGC-82815;STS-N34417 FLJ42328;GALNAC4ST-2 GALNAC-4-ST2;GalNAc-4-sulfotransferase 2;N-acetylgalactosamine 4-O-sulfotransferase 2;N-acetylgalactosamine-4-O-sulfotransferase 2;carbohydrate sulfotransferase 9;galNAc-4-O-sulfotransferase 2 APPROVED protein-coding ENSG00000154080 HGNC:19898 610191 REVIEWED 1321907 CHST4 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 This gene encodes an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3'phosphoadenosine 5'phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycoproteins. This protein is localized to the Golgi and is involved in the modification of glycan structures on ligands of the lymphocyte homing receptor L-selectin. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009] 16 16 16 q22.2 55875874 55888343 + 71560023 71572493 + 71526120 71538590 + 1580863;6480464;6907045 10330415;11181564;11310842;11439191;11726653;12107080;12218059;12477932;12855678;1433500;14702039;15220337;15489334;15752429;16303743;16344560;16386360;17049924;19156517;19343046;21988832;8419650 10164 Q8NCG5 ABBA01016777;ABBA01016778;AC010547;AF131235;AF149783;AF280088;AK026635;AK074746;AL709927;AMYH02032315;AMYH02032316;BC035282;CH471166;DA045171;DA496702;NG_029801;NM_001166395;NM_005769 AAD33015;AAG48246;AAH35282;AAK48417;ABM83036;ABM86230;BAC11177;EAW59235;NP_001159867;NP_005760;Q8NCG5 Hs.251383 1795564 CHST4_9 GST-3;GST3;GlcNAc6ST2;HEC-GlcNAc6ST;HECGLCNAC6ST;LSST;glcNAc6ST-2;gn6st-2 L-selectin ligand sulfotransferase;N-acetylglucosamine 6-O-sulfotransferase 2;OTTHUMP00000174926;carbohydrate sulfotransferase 4;galactose/N-acetylglucosamine/N-acetylgalactosamine 6-O-sulfotransferase 3;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 3;high endothelial cells N-acetylglucosamine 6-O-sulfotransferase APPROVED protein-coding ENSG00000140835 HGNC:1972 07477 REVIEWED 1344494 CHST7 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 This gene is a member of the Gal/GalNAc/GlcNAc (galactose/N-acetylgalactosamine/N-acetylglucosamine) 6-O-sulfotransferase (GST) family. Members of this family encode enzymes that catalyze the specific addition of sulfate groups to distinct hydroxyl and amino groups of carbohydrates. The encoded protein catalyzes the sulfation of 6-hydroxyl group of GalNAc in chondroitin. [provided by RefSeq, Aug 2013] X X X p11.23 50625034 50649680 + 46433192 46457838 + 46573687 46598496 + 6480464;6907045 10781596;10913333;10956661;11944989;12477932;1433500;15342556;15489334;15772651;16335952;16344560;21890473;8419650 56548 Q9NS84 AB037187;AB040711;ABBA01052227;ABBA01052228;ABBA01052229;ABBA01052230;ABBA01052231;AL022165;AMYH02039259;AMYH02039260;BC023971;BC045537;BP250418;BQ940898;CH471164;DA155923;DA277492;NG_029799;NM_019886 AAH45537;ACT64520;ACT64521;BAB03217;BAB13770;EAW59267;EAW59268;NP_063939;Q9NS84 Hs.129955 1700476 RH103859 C6ST-2;GST-5;glcNAc6ST-4;gn6st-4 N-acetylglucosamine 6-O-sulfotransferase 4;OTTHUMP00000023185;carbohydrate sulfotransferase 7;chondroitin 6-sulfotransferase 2;chondroitin 6-sulfotransferase-2;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 5 APPROVED protein-coding ENSG00000147119 HGNC:13817 02302 300375 REVIEWED 2303675 CHTF8P1 CHTF8 pseudogene 1 X X X p11.3 48629369 48632104 + 44492576 44495311 + 44633330 44636065 + 677883 AL136137;AMYH02039240;NG_005539 1653462;1737595;2148497;2163923;5092832 A006H34;D16S2678;G32357;SHGC-60590;SHGC-60824 CHTF8P;CTF8P APPROVED pseudo HGNC:35443 INFERRED 1321395 CHTF18 CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) CHTF18, CHTF8 (MIM 613202), and DCC1 (DSCC1; MIM 613203) are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009] 16 16 16 p13.3 1038508 1047960 + 838622 848074 + 788622 798074 + 1580863;6480464;8554872 11157797;11486023;12171929;12477932;12766176;12930902;14702039;15302935;17314511;17545166;18245774;18499658;19946888;20826785;21139048;21252943;21906983;21963094;22505724;22939629;24250222;24332808;24958773 63922 E7EXA6;F8WCC1;H0Y7D3;H3BN43;H3BT35;Q8WVB6 ABBA01030343;ABBA01030344;AE006465;AI650845;AK024476;AK128869;AK293846;AK309804;AL031033;AMYH02031209;AMYH02031210;BC006278;BC006437;BC018184;CH471112;DC410609;NM_022092;XM_005255470;XM_005255471;XM_005255472 AAH06278;AAH06437;AAH18184;AAK61256;BAB15766;BAG57244;EAW85704;EAW85705;EAW85706;EAW85707;EAW85708;EAW85709;EAW85710;EAW85711;NP_071375;Q8WVB6;XP_005255527;XP_005255528;XP_005255529 Hs.153850 C16orf41;C321D2.2;C321D2.3;C321D2.4;CHL12;Ctf18;RUVBL;hCTF18 C321D2.3 (novel protein);C321D2.4 (novel protein);OTTHUMP00000045506;OTTHUMP00000208409;chromosome transmission fidelity protein 18 homolog;homolog of yeast CHL12;some homology with holliday junction DNA helicase RUVB like APPROVED protein-coding ENSG00000127586 HGNC:18435 13059 613201 VALIDATED 1603860 CHSY3 chondroitin sulfate synthase 3 CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008] 5 5 5 q23.3 125370892 125652732 + 129240389 129522327 + 129904696 130186634 + 6480464;6907045;8554872 12477932;12907687;17081983;17253960;21468578 337876 Q3MTV6;Q70JA7 AB086062;AB175496;ABBA01068845;ABBA01068846;ABBA01068847;ABBA01068848;AC004219;AC005373;AC008426;AC011360;AJ504664;AJ578034;AJ632296;AJ862728;AMYH02012185;AMYH02012186;AMYH02012187;AY726604;BC137325;CH471062;KF458000;KF458011;NM_175856;XM_005271982;XM_005271983 AAI37326;BAC98832;BAF47165;CAD43233;CAE17326;CAG17593;CAH89316;EAW62379;NP_787052;Q70JA7;XP_005272039;XP_005272040 Hs.213137 1664839;1681845;1690950;1700246;1704550;1740385;1751687;1753017;2143422;2149277;2178191;5022735 CSS3;D5S2208E;D5S2534;D5S2844;G16898;L29979;RH103740;RH94280;RH98414;SHGC-105699;SHGC-78110;SHGC-83081 CHSY2;CSS3;chSy-2 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 3;N-acetylgalactosaminyltransferase 3;OTTHUMP00000223083;carbohydrate synthase 2;chondroitin glucuronyltransferase 3;chondroitin synthase 2;chondroitin synthase-2;glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II APPROVED protein-coding ENSG00000198108 HGNC:24293 16766 609963 VALIDATED 1323606 CHSY1 chondroitin sulfate synthase 1 This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011] 15 15 15 q26.3 78129035 78204977 - 101715928 101792137 - 101175723 101251932 - 1580863;6480464;6907045;8699517;8554872;7240710 10231032;11514575;12477932;12716890;12907687;12975309;15489334;16303743;19322201;19946888;21129727;21129728;21468578;23291589;23322567;23811343;24068947;24269551 22856 Q86X52 AB023207;AB071402;ABBA01020525;ABBA01020526;ABBA01020527;AC019254;AC023024;AK075096;AK296943;AL137409;AMYH02031168;AMYH02031169;AMYH02031170;AY358529;BC046247;BQ007796;CH471101;NG_031908;NM_014918;XM_006720435 AAH46247;AAQ88893;BAA76834;BAB64936;BAG59492;EAX02292;NP_055733;Q86X52;XP_006720498 Hs.110488 1679117;1716937;1764321;2159612 D11S2252E;RH121848;RH189;SHGC-147931 CHSY;CSS1;ChSy-1;DKFZp434M032;FLJ58581;KIAA0990;TPBS N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1;N-acetylgalactosaminyltransferase 1;N-acetylgalactosaminyltransferase II;OTTHUMP00000194839;carbohydrate synthase 1;chondroitin glucuronyltransferase 1;chondroitin glucuronyltransferase II;chondroitin synthase 1;glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1 APPROVED protein-coding ENSG00000131873 HGNC:17198 10493 605282;608183 REVIEWED 1346049 CIAPIN1 cytokine induced apoptosis inhibitor 1 CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008] 16 16 16 q21 41962936 41982221 - 57462081 57481439 - 57428174 57447464 - 6480464 10493829;11076863;11230166;12477932;14970183;15489334;15489336;16189514;16381901;16410721;16957168;17935775;18029348;18059532;18203020;18293492;18299278;18389626;18625724;19081179;19194512;20411424;20802492;20815902;21139048;21700214;21729524;21890473;21900206;21906983;21963094;22677939;22713669;22863883;22939629;23000965;23151078;23596212;23989406;24816145 57019 H3BPG7;H3BQ23;H3BT65;H3BTT4;H3BTZ8;H3BUG4;H3BV90;Q6FI81 ABBA01025272;AC004382;AC009052;AF116609;AF248964;AK074263;AK292281;AK295024;AL136613;AMYH02032109;BC002568;BC024196;BC067303;BC071740;CH471092;CR533545;NM_020313;XM_005256061;XM_005256062;XM_005256063 AAC24311;AAC24312;AAF71034;AAG44562;AAH02568;AAH24196;AAH67303;AAH71740;ACE86905;ACE87592;BAF84970;BAG58080;CAB66548;CAG38576;CAL38726;EAW82922;EAW82923;EAW82924;NP_064709;Q6FI81;XP_005256118;XP_005256119;XP_005256120 Hs.4900 1655342;1854998;2118066;5124102 A007G23;IB525;RH11736;SHGC-61194 2810413N20Rik;DRE2;PRO0915 OTTHUMP00000164661;anamorsin;cytokine-induced apoptosis inhibitor 1;fe-S cluster assembly protein DRE2 homolog;predicted protein of HQ0915 APPROVED protein-coding ENSG00000005194 HGNC:28050 12338 608943 VALIDATED 1607051 CHTOP chromatin target of PRMT1 This gene encodes a small nuclear protein that is characterized by a arginine and glycine rich region. The encoded protein may be involved in cell cycle progression. This protein interacts with protein arginine methyltransferases and plays a role in the activation of estradiol-dependent transcription. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 1 q21.3 126677559 126689013 + 153606458 153618782 + 153633982 153646306 + 6480464 12477932;14667819;14702039;15342556;15489334;15498874;16196087;16710414;17081983;17361185;18029348;19254951;19322201;19858291;20360068;20688955;21139048;21832049;21890473;21906983;21963094;23000965;23084401;23299939;23602568;23826332;24163370;24250222;24457600;24816145 26097 Q5T7Y7;Q9Y3Y2;X6R700 ABBA01049441;AF261137;AF318362;AI929184;AK095230;AK097870;AK308713;AK309844;AL050260;AL162258;AL512704;AMYH02001904;BC002733;BC059949;BC070027;BC108721;BC120961;BC120962;BP375397;CH471121;DC387712;NG_030030;NM_001206612;NM_001244664;NM_015607;XM_005245085;XM_005245086;XM_006711269 AAG44673;AAH02733;AAH59949;AAH70027;AAI08722;AAI20962;AAI20963;AAL55869;CAB43362;CAC21650;EAW53290;EAW53291;EAW53292;EAW53293;EAW53294;EAW53295;NP_001193541;NP_001231593;NP_056422;Q9Y3Y2;XP_005245142;XP_005245143;XP_006711332 Hs.611057 1655151;1655917;1659492;1689606;2152159;5022450 D10S275;RH35847;RH78045;SHGC-2950;STS-N47007;WI-21724 C1orf77;DKFZp547E1010;FL-SRAG;FLJ40551;FOP;MGC131924;MGC86949;RP1-178F15.2;SRAG;SRAG-3;SRAG-5;pp7704 Friend of PRMT1 protein;OTTHUMP00000035121;OTTHUMP00000035122;OTTHUMP00000035123;chromatin target of PRMT1 protein;small arginine- and glycine-rich protein;small protein rich in arginine and glycine APPROVED protein-coding ENSG00000160679 HGNC:24511 13163 614206 REVIEWED 1312958 CHURC1 churchill domain containing 1 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN multicellular organismal development (inferred); positive regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); INTERACTS WITH cocaine; disodium selenite; heroin 14 14 14 q23.3 45435725 45456498 + 65381079 65410635 + 64914361 64935368 + 1580863;6480464 12477932;14651851;14702039;15342556;15489334;17610897;20211142;21360829;21832049 91612 H0YHA3;H0YHB4;H0YID9;Q8WUH1;X6R5R5 ABBA01018373;AF060510;AK057626;AK296141;AK315905;AL135745;AL139022;AMYH02029364;AV734503;AX970436;BC010517;BC020550;BM453839;BP305870;CH471061;KF455908;NM_001204063;NM_001204064;NM_145165 AAG43128;AAH20550;BAG51943;BAH12268;BAH14276;CAF15544;EAW80883;EAW80884;EAW80885;EAW80886;EAW80887;NP_001190992;NP_001190993;NP_660148;Q8WUH1 Hs.731537 1647706;1665779;1724801;1736454;1772969;1772971;1853059;2154595;2166320;2167449;5092826;5118444 A002U27;A006H20;Cda1ka10;D11S3316;D14S712E;G32354;RH123549;RH44676;RH68912;SGC33171;SHGC-33304;WI-11285 C14orf52;FLJ33064;FLJ51978;FLJ78804;My015;chch OTTHUMP00000243290;OTTHUMP00000243291;OTTHUMP00000243293;OTTHUMP00000243294;protein Churchill protein-coding ENSG00000258289 HGNC:20099 12262 608577 VALIDATED 5507996 CHURC1-FNTB CHURC1-FNTB readthrough This locus represents naturally occurring read-through transcription between the neighboring CHURC1 (churchill domain containing 1) and FNTB (farnesyltransferase, CAAX box, beta) on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011] 14 14 q23 65381079 65529373 + 64914361 65062655 + 6480464 19862010;20967262;21890473;21906983;23000965;23222517;23720494 100529261 B3KSC2;B4DL54;H0YHI0;H0YIM3;H0YIM9;H0YJ25;P49356 ABBA01018373;ABBA01018374;ABBA01018375;ABBA01018376;ABBA01018377;ABBA01018378;AK296850;AK303739;AL135745;AL139022;AMYH02029364;AMYH02029365;AMYH02029366;AMYH02029367;AMYH02029368;KF455908;NM_001202558;NM_001202559 BAG59416;BAG64712;NP_001189487;NP_001189488 Hs.325531 2126618;2154883;2176004 A003A45;WI-18777;WI-9215 FLJ58825;FLJ59570 OTTHUMP00000243297 protein-coding HGNC:42960 VALIDATED 1606282 CHTF8 CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jan 2010] 16 16 16 q22.1 53661235 53675816 - 69151912 69166493 - 69118009 69132590 - 6480464 11389843;12477932;12477976;12766176;12930902;14702039;15146197;15342556;15489334;15616553;16055720;16189514;16341674;16344560;16712791;17545166;20826785;21139048;21988832;24250222;24816145;8889548 54921 E5RGL1;E5RGY5;E5RHL4;H0YAV5;H3BPP1;H3BQB7;J3KSJ7;P0CG12;P0CG13 ABBA01025514;AC009027;AF525164;AK000407;AL833902;AMYH02032271;BC018700;BC069059;BM820172;BP195395;BP222147;BU631276;BU739855;CB135653;CB147424;CH471092;CN388626;DA076128;DA378951;DB188088;NM_001039690;NM_001040146;NR_033227 AAH18700;AAQ08897;BAA91144;CAD38758;EAW83250;NP_001034779;NP_001035236;P0CG12;P0CG13 Hs.85962 1653462;1737595;1846922;2148497;2163923;5092832 A006H34;D16S2678;D16S3301;G32357;SHGC-60590;SHGC-60824 CTF8;DERPC;FLJ20400;hCTF8 OTTHUMP00000225367;OTTHUMP00000225506;chromosome transmission fidelity factor 8 homolog;chromosome transmission fidelity protein 8 homolog;decreased expression in renal and prostate cancer protein APPROVED protein-coding ENSG00000168802 HGNC:24353 16797 613202 REVIEWED 2301776 CIAPIN1P cytokine induced apoptosis inhibitor 1 pseudogene 18 18 18 q11.2 20989924 20991932 + 24179283 24181291 + 26599319 26601327 + 728599 ABBA01022571;AC090206;AMYH02034457;NG_008808 1336261;1655342;2118066;2191743 A007G23;D18S819;IB525;MARC_6359-6360:997299586:3 HsT2384 pseudo HGNC:31087 INFERRED 1354495 CIAO1 cytosolic iron-sulfur assembly component 1 INVOLVED IN iron-sulfur cluster assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN CIA complex; MMXD complex; INTERACTS WITH 5-fluorouracil; all-trans-retinoic acid; cobalt dichloride 2 2 2 q11.2 91373072 91381105 + 96931884 96939917 + 96266146 96274179 + 1580863;6480464;8554872 10493829;12477932;14702039;15489334;16169070;16189514;16751776;17041588;17353931;17937914;21139048;21832049;21890473;21963094;22190034;22379092;22505724;22678362;22939629;23000965;23602568;23891004;24130505;24250222;24654937;24816145;8125298;9556563 9391 O76071 ABBA01036593;AC004020;AC021188;AF086118;AI094333;AK056423;AK092687;AK124703;AK223257;AK299503;AK315568;AMYH02004329;AMYH02004330;BC001395;BC032812;BE220199;BG108391;BI460314;CH471207;CR456802;EF011618;NM_004804;U63810 AAC23493;AAC24948;AAH01395;AAH32812;ABK41108;ABW03511;ABW03824;BAD96977;BAG37943;BAG61458;CAG33083;EAW71374;EAW71375;NP_004795;O76071 Hs.12109 1665556;1676192;2138612;2189377;5015961;5020740;5022450;5022651;5024413;5037552 D10S275;D11S2921;D15S1477;D8S2279;G29219;L17809;L17877;MARC_3297-3298:991936980:1;RH75344;SHGC-33807 CIA1;WDR39 OTTHUMP00000161009;WD repeat domain 39;WD repeat-containing protein 39;WD40 protein Ciao1;cytosolic iron-sulfur protein assembly 1 homolog;probable cytosolic iron-sulfur protein assembly protein CIAO1 APPROVED protein-coding HGNC:14280 16057 604333 VALIDATED 1606728 CIB4 calcium and integrin binding family member 4 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene 2 2 2 p23.3 26647704 26707827 - 26804073 26864211 - 26581205 26641343 - 6480464;8554872 12477932;15574431;20379614;22699663;22779914 130106 A0PJX0 ABBA01045184;ABBA01045185;ABBA01045186;AC015977;AMYH02003462;AMYH02003463;AMYH02003464;BC127684;BC127685;BC140923;CH471053;NM_001029881 A0PJX0;AAI27685;AAI27686;AAI40924;EAX00680;NP_001025052 Hs.591579 1338525;1647032;1759047;2120145;7187455 D2S174;G17673;RH65646;SHGC-151037 KIP4 OTTHUMP00000200899;calcium and integrin-binding family member 4 protein-coding ENSG00000157884 HGNC:33703 18726 610646 VALIDATED 1315401 CHUK conserved helix-loop-helix ubiquitous kinase This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008] 10 10 10 q24-q25 95686067 95727300 - 101948123 101989367 - 100188366 100229610 - 1580863;2292150;2292172;2291908;2298657;5133702;5133703;5133701;6480464;6484113;6907045;7240710;2298659;7495773;8554872;8699517 12655295;17377533;17543437;18267068;18317887;18643924;18827022;20472709;21496385 10022904;10066434;10072079;10094049;10187861;10195894;10469655;10485710;10485711;10521409;10648614;10713178;10723127;10733566;10747982;10755617;10779355;10848576;10848580;10887201;10962033;10968790;10980203;11002417;11042193;11057907;11080499;11095741;11096118;11113112;11136824;11278268;11359906;11485410;11527961;11585904;11594795;11805286;11809792;11815618;11830587;11853669;11864612;11877453;11959143;11971985;11976329;12048203;12054687;12070292;12093792;12133833;12138192;12190313;12210728;12244103;12351658;12411322;12459277;12477932;12482991;12486103;12504025;12547194;12589056;12612076;12637324;12707358;12709429;12771929;12789342;12842894;12943667;14499622;14585846;14585847;14585990;14597638;14743216;14963024;15071597;15084260;15084608;15125834;15140882;15153339;15164054;15184390;15208311;15218148;15226448;15276183;15383283;15389589;15456791;15469934;15489227;15494311;15590691;15601829;15670770;15677466;15749833;15761153;15782119;15800029;15802604;15808510;15836773;15845455;15856023;16034126;16046471;16051665;16126728;16177806;16258173;16280329;16286467;16303288;16319058;16354686;16356855;16365431;16382138;16385451;16393995;16405428;16407216;16424386;16497931;16583354;16611882;16733051;16840786;16893890;16902410;17000764;17047224;17053167;17079494;17102620;17138672;17145747;17182689;17237423;17237434;17237443;17244613;17272824;17289033;17317777;17319651;17363905;17363973;17379600;17384642;17434128;17439942;17452332;17452475;17507655;17537731;17540171;17563756;17568778;17597077;17616684;17620599;17630505;17643371;17684021;17693255;17703412;17728323;17785555;17823124;17891179;17897950;17914462;17939994;17962807;17977820;18003900;18029348;18071880;18074035;18079694;18163512;18180283;18207244;18224289;18266467;18268325;18362886;18443205;18490760;18501560;18512729;18519641;18550535;18560356;18571841;18579519;18593939;18600435;18604171;18625728;18626576;18633439;18688039;18704119;18760861;18782346;18818691;18829575;18940312;18949366;18952893;18990758;19050262;19074436;19085841;19088076;19104039;19150425;19223558;19258923;19270264;19287455;19421711;19453261;19488402;19573080;19656241;19728335;19773279;19786094;19815509;19838210;19851296;19854138;19875381;19909783;19913121;19948975;20005846;20026656;20028970;20043910;20051109;20056178;20098747;20100315;20133937;20145131;20149620;20164171;20198315;20200282;20331378;20348096;20351780;20356841;20368414;20378831;20379146;20434986;20448286;20449947;20501937;20503287;20508983;20568250;20614026;20628086;20634891;20671123;20684021;20711193;20817876;20855622;20932476;20940109;20961246;21048031;21056038;21081648;21131783;21139048;21170261;21191633;21248029;21451574;21474709;21482671;21571356;21575199;21703539;21724995;21784860;21795344;21862596;21887257;21903422;21906983;21988832;22149351;22156202;22196886;22262057;22384180;22407921;22435562;22474019;22480519;22505724;22547678;22605335;22660635;22740410;22748238;22776252;22848609;22863883;22891964;22939629;22990857;23007157;23027537;23032264;23035900;23041317;23115237;23131831;23178494;23322406;23343355;23444213;23455325;23477746;23501112;23563314;23597566;23602568;23636414;23708292;23732909;23774506;23776175;23778976;23872070;23894194;23986494;24075781;24215713;24270572;24469399;24720748;24816145;25036637;7558004;8246997;8777433;9244310;9252186;9346241;9346484;9346485;9409737;9520446;9632806;9689078;9721103;9742107;9744859;9751059;9751060;9813230;9819420;9891086;9914500 1147 O15111;Q59GT1 AB209028;ABBA01063229;AF009225;AF012890;AF080157;AL133012;AL138921;AL521750;AMYH02023650;AY652653;BC034796;BC092514;BM800404;CH471066;NG_028023;NM_001278;U22512;XR_246062 AAC50713;AAC51662;AAC51671;AAD08996;AAH92514;AAT49098;BAD92265;EAW49845;NP_001269;O15111 Hs.198998 1668087;1695364;1704102;1797402;5015881;5017170;5022651 CHUK_1668;D11S2921;GDB:335751;L29953;RH15687;SHGC-68297;SHGC-83371 IKK-alpha;IKK1;IKKA;TCF-16;TCF16 I-kappa-B kinase 1;I-kappa-B kinase alpha;I-kappa-B kinase-alpha;IKBKA;IKK-a kinase;IkB kinase alpha subunit;NFKBIKA;Nuclear factor NFkappaB inhibitor kinase alpha;OTTHUMP00000020273;conserved helix-loop ubiquitous kinase;ikappaB kinase;inhibitor of nuclear factor kappa-B kinase subunit alpha;nuclear factor NF-kappa-B inhibitor kinase alpha;transcription factor 16 APPROVED protein-coding ENSG00000213341 HGNC:1974 02811 600664;613630 REVIEWED 2881602 CICP1 capicua transcriptional repressor pseudogene 1 Y Y q11.223 27535476 27538969 + 25389329 25392822 + 12815422;9847074 360017 AC006328;NG_004755 2188783 G66477 APPROVED pseudo HGNC:23936 VALIDATED 1312677 CIB3 calcium and integrin binding family member 3 This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 19 19 19 p13.12 16174144 16186244 - 16272179 16284286 - 16161368 16173475 - 1580863;6480464 12477932;15574431;22779914 117286 M0QZ29;Q96Q77 AB050868;ABBA01051132;AC020911;AMYH02035670;AW295492;BC069320;BC069428;BC069524;BC112200;BC113591;CH471106;NM_001300922;NM_054113;XM_005259728 AAH69320;AAH69428;AAH69524;AAI12201;AAI13592;ADR82855;BAB71789;EAW84533;EAW84534;EAW84535;NP_001287851;NP_473454;Q96Q77;XP_005259785 Hs.255432 KIP 3;KIP3;MGC138405;MGC142151;MGC96922 DNA-dependent protein kinase catalytic subunit-interacting protein 3;calcium and integrin-binding family member 3;kinase-interacting protein 3 APPROVED protein-coding ENSG00000141977 HGNC:24580 16713 610645 REVIEWED 3077585 CICP10 capicua transcriptional repressor pseudogene 10 2 2 243062028 243062293 - 242119877 242120142 - 100462787 AC145627;AMYH02006127;NG_021554 APPROVED pseudo HGNC:37901 INFERRED 732228 CIB1 calcium and integrin binding 1 (calmyrin) This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 15 15 15 q25.3-q26 67177856 67181658 - 90773477 90808991 - 90230245 90265759 - 1580863;6480464;8554872 10366599;10523297;10822252;10826701;11039900;11756406;11856312;11997098;12011095;12023286;12477932;12651910;12714504;12881299;14992593;15190070;15203218;15231747;15475008;15489334;15574431;15604093;15685448;15885068;15933764;16061695;16418530;16582881;16723353;16825200;17516631;18627437;18989529;19056867;19190083;19388079;19805025;19854831;19913121;19923078;20473878;20628086;20951827;20959453;21215777;21388953;21748785;21857112;21890473;21906983;21963094;21988832;22505724;22547769;22779914;22964641;23503467;24011356;24250222;24550731;9030514;9372844;9852683 10519 Q99828 AA769426;AB021866;AB451276;AB451406;ABBA01053049;AC091167;AMYH02031037;BC000846;BG231771;BG759961;BI520476;CD622547;CH471101;CR456955;HY070030;JQ246073;NM_001277764;NM_006384;NR_102427;NR_102428;U82226;U83236;U85611;XM_006720375 AAB39758;AAB53387;AAC51106;AAH00846;ABM82122;ABM85305;AEZ06077;BAA36281;BAG70090;BAG70220;CAG33236;EAX02087;EAX02088;EAX02089;EAX02090;NP_001264693;NP_006375;Q99828;XP_006720438 Hs.715556 5017487 CIB1 CIB;CIBP;KIP;KIP1;PRKDCIP;SIP2-28 DNA-PK interaction protein;DNA-PKcs-interacting protein;DNA-dependent protein kinase interacting protein;OTTHUMP00000194684;SNK-interacting protein 2-28;Snk interacting protein 2-28;calcium and integrin binding protein;calcium and integrin binding protein 1;calcium and integrin binding, protein kinase interacting protein;calcium and integrin-binding protein 1;calcium- and integrin-binding protein;calmyrin;kinase-interacting protein APPROVED protein-coding ENSG00000185043 HGNC:16920 03800 602293 REVIEWED 2801954 CICP11 capicua transcriptional repressor pseudogene 11 7 7 p11.2 55804472 55808193 + 55736779 55740500 + 100288904 AC091812;AMYH02015737;NG_022989 APPROVED pseudo HGNC:37903 INFERRED 1347816 CIART circadian associated repressor of transcription ENCODES a protein that exhibits core promoter sequence-specific DNA binding; E-box binding (ortholog); INVOLVED IN circadian regulation of gene expression (ortholog); locomotor rhythm (ortholog); negative regulation of transcription, DNA-templated (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); cadmium atom 1 1 1 q21.2 123370960 123375233 + 150254930 150259505 + 150282521 150287093 + 737633;6480464 12477932 14702039;15489334;16710414;17207965;21832049;24385426;24736997 148523 F6U7J4;Q5TB12;Q5TB13;Q5TB14;Q8N365 ABBA01049331;AC242988;AK056960;AK098755;AK315397;AL138795;BC017397;BC027999;BC047238;BE784098;CH471121;CK904668;CN359562;EB388133;NM_001300838;NM_001300839;NM_001300840;NM_001300841;NM_144697;XM_005244910;XM_005244911 AAH17397;AAH27999;AAH47238;ACT64534;ACT64535;ADQ31740;BAB71326;BAC05404;BAG37790;CAI22816;CAI22817;CAI22818;CAI22819;EAW53560;EAW53561;EAW53562;EAW53563;EAW53564;NP_001287767;NP_001287768;NP_001287769;NP_001287770;NP_653298;Q8N365;XP_005244967;XP_005244968 Hs.54680 1687297;2186238;5022578;5037552 D1S1423;D8S2279;RH103224;SHGC-54240 C1orf51;FLJ25889;GM129 CHRONO;OTTHUMP00000014535;OTTHUMP00000014536;OTTHUMP00000014537;OTTHUMP00000014538;OTTHUMP00000014539;chIP-derived repressor of network oscillator;circadian transcriptional repressor C1orf51;circadian-associated transcriptional repressor;computationally highlighted repressor of the network oscillator;hypothetical protein LOC148523;uncharacterized protein C1orf51 APPROVED protein-coding ENSG00000159208 HGNC:25200 14081 615782 VALIDATED 5128566 CICP15 capicua transcriptional repressor pseudogene 15 5 5 180755133 180758897 - 181328132 181331896 - 100507648 AC138035;NG_028182 APPROVED pseudo HGNC:38549 INFERRED 1318655 CIB2 calcium and integrin binding family member 2 The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 15 15 15 q24 55333003 55359888 - 78396948 78423877 - 78104606 78131535 - 737633;1580863;6480464;7240710;8554872;8699517 12477932 10764802;15146197;15489334;15711797;18976975;20174665;20301442;22779914;23023331;23275889;23331261;24022220;24239741;24428592;24616153;9630066;9931475 10518 H0YKC8;H0YKX8;H0YLL7;H0YLX3;H0YML3;H0YND4;O75838 AA731290;AB012955;ABBA01060579;AC090260;AI817087;AI857912;AK293167;AL110098;AMYH02030859;BC033108;BC047381;BC057292;BE042882;BE907622;BI523557;BM908035;BQ681471;BT019962;BU556614;CH471136;CN371149;CN371150;NG_033006;NM_001271888;NM_001271889;NM_001301224;NM_006383;NR_125435;XM_005254126;XM_005254128;XM_006720373;XM_006720374 AAH33108;AAH47381;AAV38765;ADQ32461;BAA33584;BAG56711;EAW99183;EAW99184;EAW99185;EAW99186;NP_001258817;NP_001258818;NP_001288153;NP_006374;O75838;XP_005254183;XP_005254185;XP_006720436;XP_006720437 Hs.129867 1651495;1725637;2138452 G62031;STS-D60668;WI-17359 DFNB48;KIP 2;KIP2;USH1J 2810434I23Rik;DNA-dependent protein kinase catalytic subunit-interacting protein 2;OTTHUMP00000184905;Usher syndrome 1J (autosomal recessive);calcium and integrin-binding family member 2;kinase-interacting protein 2 APPROVED protein-coding ENSG00000136425 HGNC:24579 05713 605564;609439;614869 REVIEWED 1321769 CIC capicua transcriptional repressor ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; atrazine; zinc atom 19 19 19 q13.2 39589613 39600745 + 42788734 42799949 + 42284582 42295797 + 1580863;6480464;8554872 12393275;15057824;15302935;15345747;15981098;16713569;17081983;17190598;19837261;19913121;20628086;20936779;21087211;21173145;21817013;21900206;22072542;22588899;22869205;23887164;24086756;24250222;24897389;9205841 23152 I3L135;I3L1Q4;I3L2I4;I3L2J0;I3L373;Q96RK0 AB002304;ABBA01040846;AC006486;AF363689;AK025939;AMYH02036148;CH471126;NM_015125;XM_005258673;XM_005258674;XM_005258675 AAD11988;AAI40444;AAK73515;BAA20765;EAW57119;EAW57120;EAW57121;NP_055940;Q96RK0;XP_005258730;XP_005258731;XP_005258732 Hs.388236 1662720;1734612 D19S619E;WI-12417 KIAA0306 capicua homolog APPROVED protein-coding ENSG00000079432 HGNC:14214 10831 612082 VALIDATED 3207429 CICP12 capicua transcriptional repressor pseudogene 12 7 7 7 66918756 66919598 + 55865727 55866569 + 55798034 55798876 + 100420224 ABBA01061828;AC092647;AMYH02015740;NG_022557 APPROVED pseudo HGNC:37905 INFERRED 3436434 CICP13 capicua transcriptional repressor pseudogene 13 1 1 1 q41 195861313 195863242 + 222641463 222643393 + 222468121 222470051 + 728615 ABBA01048056;AL513314;AMYH02002747;NG_022827 APPROVED pseudo HGNC:37907 INFERRED 7247092 CICP18 capicua transcriptional repressor pseudogene 18 6 6 p25.3 142272 144067 + 142272 144067 + 646070 AL353654;AL929347;AMYH02012954;NG_022338 pseudo HGNC:48828 INFERRED 7247202 CICP19 capicua transcriptional repressor pseudogene 19 19 19 193255 196903 + 193255 196903 + 100506706 AC092299;NG_028701 pseudo HGNC:48829 INFERRED 7247093 CICP20 capicua transcriptional repressor pseudogene 20 7 7 7 p12.3 45953924 45957539 - 45855000 45858615 - 45815401 45819016 - 100129050 ABBA01058252;AC096582;AMYH02015643;NG_022532 pseudo HGNC:48830 INFERRED 7247045 CICP17 capicua transcriptional repressor pseudogene 17 7 7 7 p12.1 51514821 51518627 + 51449981 51452357 + 51382284 51384660 + 642663 ABBA01011811;AC012441;AMYH02015703;NG_028679 pseudo HGNC:48827 INFERRED 7246991 CICP22 capicua transcriptional repressor pseudogene 22 7 7 p14.1 39835086 39837997 - 39795487 39798398 - 100288083 ABBA01058145;AC004987;AMYH02015567;NG_028664 pseudo HGNC:48838 INFERRED 3207430 CICP16 capicua transcriptional repressor pseudogene 16 4 4 4 715 2831 + 119557825 119559941 - 118636670 118638786 - 100420203 ABBA01044687;AC110079;AMYH02009984;NG_022032 APPROVED pseudo HGNC:38550 INFERRED 7247201 CICP25 capicua transcriptional repressor pseudogene 25 16 16 q24.3 90238512 90242280 - 90172104 90175872 - 100289383 AC133919;AMYH02032705;NG_027975 pseudo HGNC:48837 INFERRED 7247047 CICP24 capicua transcriptional repressor pseudogene 24 100996387 AC079355;AMYH01017425 pseudo HGNC:48831 MODEL 7247019 CICP27 capicua transcriptional repressor pseudogene 27 1 1 131125 135677 + 131125 135677 + 100420257 AL627309;AMYH02000026;NG_027060 pseudo HGNC:48835 INFERRED 7246955 CICP21 capicua transcriptional repressor pseudogene 21 1 1 243213084 243215021 + 243049782 243051719 + 100420263 AL606534;AMYH02003061;NG_027229 pseudo HGNC:48836 INFERRED 7247194 CICP23 capicua transcriptional repressor pseudogene 23 11 11 p15.5 123272 127050 + 123272 127050 + 100505953 AC069287;AMYH02024118;AMYH02024119;NG_027976 pseudo HGNC:48833 INFERRED 7247193 CICP26 capicua transcriptional repressor pseudogene 26 1 1 1 q42.13 201353707 201356097 - 228163473 228165863 - 227975772 227978162 - 648262 ABBA01005824;AL360269;AMYH02002835;NG_022756 pseudo HGNC:48834 INFERRED 3277505 CICP4 capicua transcriptional repressor pseudogene 4 20 20 q13.33 62922193 62930566 - 64290840 64299213 - 100132920 AL137028;NG_016559 APPROVED pseudo HGNC:37753 INFERRED 2881604 CICP2 capicua transcriptional repressor pseudogene 2 Y Y q11.223 26423473 26426965 - 24277326 24280818 - 12815422 360016 AC012005;NG_004755 2188783 G66477 APPROVED pseudo HGNC:23935 VALIDATED 5128567 CICP6 capicua transcriptional repressor pseudogene 6 3 3 197949512 197953164 - 198222641 198226293 - 100507251 AC073135;NG_028737 APPROVED pseudo HGNC:37755 INFERRED 2974704 CICP14 capicua transcriptional repressor pseudogene 14 7 7 7 q32.1 123090937 123094605 - 128295178 128298845 - 128655124 128658791 - 100130600 ABBA01057660;AC018638;AC093183;AMYH02016716;CH471070;NG_023445 EAW83664 APPROVED pseudo HGNC:38542 INFERRED 5128569 CICP7 capicua transcriptional repressor pseudogene 7 1 1 p36.33 327463 332225 - 487112 491874 + 100288667 AL732372;NG_028822 APPROVED pseudo HGNC:37756 INFERRED 7247094 CICP28 capicua transcriptional repressor pseudogene 28 7 7 p11.2 56873032 56875346 + 56805339 56807653 + 100287136 AC118758;AMYH02015763;NG_022558 pseudo HGNC:48832 INFERRED 2902497 CICP5 capicua transcriptional repressor pseudogene 5 1 1 q42.11 224133977 224137163 + 223946275 223949461 + 730978 AC138393;AMYH02002767;NG_016560 2117011 G09791 APPROVED pseudo HGNC:37754 INFERRED 3340242 CICP3 capicua transcriptional repressor pseudogene 3 1 1 p36.33 657426 661202 + 722046 725822 + 100132630 AL669831;AMYH02000066;NG_016558 APPROVED pseudo HGNC:37742 INFERRED 3547159 CICP9 capicua transcriptional repressor pseudogene 9 10 10 38742216 38744725 - 38453288 38455797 - 100420293 ABBA01001512;AL133216;AMYH02022663;NG_025428 bA291L22.4 APPROVED pseudo HGNC:37758 INFERRED 1347347 CIDX combined immunodeficiency, X-linked 1150 HGNC:1978 1626563 CIDECP cell death-inducing DFFA-like effector c pseudogene 3 3 3 p25.3 9994690 10003273 - 10059237 10067820 - 10017553 10026136 - 12477932 152302 ABBA01020396;AC022007;AC034193;AF279614;AMYH02006243;BC006266;BC043599;BC069255;BC090925;NR_002786 AAH43599 Hs.635072 1653095;1735314;1775076;1855559;2125481;2132740;5014023;5015879;5017266 A004X28;D13S1553;D3S2947E;GDB:314949;L18506;SHGC-76695;SHGC-76700;SHGC-76726;WI-11598 CICE pseudo ENSG00000186162 HGNC:24230 VALIDATED 4110359 CICP8 capicua transcriptional repressor pseudogene 8 7 7 7 p11.2 67466072 67483827 + 56416079 56433841 + 56348386 56366148 + 442676 AC093392;AMYH02015756;AMYH02015757;CH471140;NG_027793 EAX07997 APPROVED pseudo HGNC:37757 INFERRED 1353261 CILD2 ciliary dyskinesia, primary 2 ASSOCIATED WITH Primary ciliary dyskinesia, 2 (inferred) 7240710 10745040 56162 1336552;1340650 D19S218;D19S572 HGNC:1979 606763 1312942 CIDEA cell death-inducing DFFA-like effector a This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010] 18 18 18 p11.21 12134265 12157825 + 12254318 12277594 + 12254319 12277595 + 1580863;1625390;6480464 16186410 10837461;12477932;12910269;14702039;15919794;16169070;17080483;17895319;18033804;18328351;18480843;18509062;18645223;19010897;20154362;20211485;20467438;20810722;20945533;21106268;21315073;21636835;23475172;24057179;9564035 1149 E5RJ03;O60543;Q8N5P9 AA683375;ABBA01074011;ABBA01074012;ABBA01074013;AF041378;AK122762;AMYH02034325;AMYH02034326;AMYH02034327;AP005264;AY364639;BC031896;BQ718688;CH471113;EF444967;HQ384162;NM_001279;NR_036468;R73455;XM_006722297 AAC34987;AAH31896;AAQ65241;ACA05965;ACA05966;ADU05471;BAG53714;EAX01555;NP_001270;O60543;XP_006722360 Hs.249129 1740267 D18S1085 CIDE-A OTTHUMP00000162472;cell death activator CIDE-A APPROVED protein-coding HGNC:1976 08380 604440 REVIEWED 1602222 CINP cyclin-dependent kinase 2 interacting protein The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. [provided by RefSeq, Jul 2013] 14 14 14 q32.31 82869127 82883762 - 102814619 102829253 - 102348282 102362916 - 6480464 12477932;14702039;15231747;16082200;16189514;16344560;17273735;19647519;19889979;21628470;21832049 51550 H0YKY0;H0YN33;Q9BW66 ABBA01048479;ABBA01048480;AF228148;AF228149;AK056112;AL137229;AMYH02029897;BC000600;BU174070;BX248279;CH471061;CR457178;DA167716;DA351468;DA699021;EL951117;NM_032630;XM_005267753 AAF44747;AAF44748;AAH00600;BAB71095;CAD62607;CAG33459;EAW81785;EAW81786;NP_116019;Q9BW66;XP_005267810 Hs.129634 1662131;1769872;2109147;2187284;5015619;5016478;5021396;5022651;5037552 CINP_9737;D11S2921;D11S3114;D8S2279;G36300;GDB:313783;GDB:434012;RH44578;SGC34870 MGC849 CDK2-interacting protein;OTTHUMP00000246827;cyclin-dependent kinase 2-interacting protein APPROVED protein-coding ENSG00000100865 HGNC:23789 16715 613362 REVIEWED 1354006 CIDEC cell death-inducing DFFA-like effector c This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 3 3 3 p25.3 9843853 9856196 - 9908394 9921938 - 9866710 9880257 - 737633;1580863;6480464;8699517;7240710;8554872 12477932 12429024;14702039;15489334;16507259;17207965;18029348;18171433;18334488;18500987;18509062;18702959;19276890;19661960;19843876;20049731;20089860;20154362;20440297;20945533;20957525;20967381;21636835;21865223;23220584;23233732;23383273;23475172;24025675;24627478 63924 Q96AQ7 ABBA01020397;ABBA01020398;AC018809;AF303893;AK024524;AK024530;AL598630;AL598731;AMYH02006237;AMYH02006238;AX027925;AY364638;AY364640;BC016851;CD518729;CD519587;CH471055;NM_001199551;NM_001199552;NM_001199623;NM_022094;XM_005265374;XM_005265375;XM_005265376 AAH16851;AAN32612;AAQ65242;AAR23106;ADQ31589;BAB14920;BAB14922;CAC09160;EAW64011;EAW64012;EAW64013;EAW64014;NP_001186480;NP_001186481;NP_001186552;NP_071377;Q96AQ7;XP_005265431;XP_005265432;XP_005265433 Hs.567562 1855559;2110319 CIDE-3_8081;SHGC-76695 CIDE-3;CIDE3;FLJ20871;FPLD5;Fsp27 OTTHUMP00000158645;OTTHUMP00000207602;cell death activator CIDE-3;cell death-inducing DFFA-like effector protein C;fat specific protein 27;fat-specific protein FSP27 homolog APPROVED protein-coding ENSG00000187288 HGNC:24229 13060 612120;615238 REVIEWED 1322465 CILP2 cartilage intermediate layer protein 2 FOUND IN extracellular vesicular exosome; INTERACTS WITH copper(2+) sulfate; valproic acid; 17beta-estradiol (ortholog) 19 19 19 p13.11 19553136 19561530 + 19649057 19657468 + 19538265 19546659 + 737633;1580863;6480464 12477932 12746903;15489334;16344560;18193043;18193044;18987386;19060906;19656773;20570916;20679960;20686565;20864672;21691831;21880736;22208664;22268729;23974872;24097068;24350279 148113 K7EPJ4;Q8IUL8 ABBA01051335;AC011448;AF542080;AK127735;AK314213;AMYH02035759;BC018939;BC034926;BC068256;CH471106;DA328640;NM_153221 AAH18939;AAH34926;AAN17826;BAG36887;EAW84832;EAW84833;NP_694953;Q8IUL8 Hs.279574 2191219 MARC_16334-16335:1017683498:1 CILP-2;CLIP-2;MGC45771 cartilage intermediate layer protein-like protein 2 protein-coding ENSG00000160161 HGNC:24213 16714 612419 VALIDATED 1320650 CIDEB cell death-inducing DFFA-like effector b ENCODES a protein that exhibits identical protein binding; INVOLVED IN apoptotic process; execution phase of apoptosis (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,3-dimethoxynaphthalene-1,4-dione 14 14 14 q12 4639022 4645205 - 24774393 24780576 - 24305187 24311377 - 1580863;6480464;8554872 10619428;10837461;12429024;12477932;12595532;14702039;15489334;16248853;16712791;17207965;19064571;20551328;23475172;24161736;24829338;9564035 27141 G3V4E2;Q9UHD4 ABBA01061340;AF190901;AF218586;AF544398;AI242048;AK000387;AK122828;AL096870;AMYH02028880;AX103434;BC000982;BC035970;BX418750;CB162472;CH471078;DN997151;NM_014430;XM_005267540 AAF23324;AAF27658;AAH35970;AAN37907;ADQ32263;BAA91132;BAG53748;CAC37702;EAW66031;EAW66032;EAW66033;NP_055245;Q9UHD4;XP_005267597 Hs.642693;Hs.708040 1666759;1674113;1676852;1685165;1687101;1778752;2106991 CIDEB_7222;D14S1220;RH91413;RH93439;RH94061;STS-AA009760;STS-Z41293 OTTHUMP00000246430;OTTHUMP00000246431;OTTHUMP00000246432;cell death activator CIDE-B protein-coding ENSG00000136305 HGNC:1977 11981 604441 VALIDATED 6484031 CIR1P2 corepressor interacting with RBPJ, 1 pseudogene 2 4 4 4 q26 112927497 112929009 - 115634595 115636107 - 114713439 114714951 - 100131828 ABBA01063846;AC122938;AMYH02009959;NG_022027 pseudo HGNC:44012 INFERRED 1348941 CIITA class II, major histocompatibility complex, transactivator This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 16 16 16 p13 11140481 11188432 + 10971055 11018840 + 10866228 10936274 + 1600188;1580863;1358146;5491200;5491188;5491175;5491201;5491199;5491205;5491204;5491187;5491190;5491176;5491189;5491203;5491177;6480464;6907045;7242892;7242893;7242896;7242901;8699517;8554872 11466404;12828554;14569092;15808836;15821736;15897313;16426246;17043423;17183695;17661914;17693604;17711409;18292553;18593762;19221398;20478458;21653641;9099848;9422398 1007865;1008718;10464099;10501838;10644363;10661406;107465;11003667;11046145;11118314;11416140;11463838;11514574;11774613;11777970;11792431;11857059;11862382;11953317;11978778;11981818;12052885;12072194;12077331;12218128;12355430;12374747;12391222;12391224;12477932;12517958;12697811;12748124;12859996;12883198;12884309;12919287;12933903;14525769;14528304;14563641;14973505;15100295;15162420;15210796;15242870;15247294;15247301;15326139;15467734;15502823;15528357;15682480;15771576;15788405;15876426;15950283;15964851;16254053;16600381;16776848;16849401;16920747;16996793;17012290;17075826;17133579;17222823;17300840;17493635;17611194;17620097;17623662;17678724;17875550;17919972;17956914;17991736;18209080;18215421;18226342;18245089;18349319;18398440;18437201;18630461;18982019;19041327;19081173;19104823;19201831;19229048;19317741;19358337;19523152;19567623;19578796;19605748;19659749;19660582;19814686;19853614;19897249;19913121;20078946;20190752;20211854;20228799;20230522;20351748;20378664;20379614;20538595;20585587;20628086;20634887;20942939;21041720;21215072;21216962;21248776;21368758;21458073;21614020;21664896;21670739;21736733;21813598;21940994;21989738;22461888;22513452;22532676;22563434;23007646;23009575;23021357;23052709;23133532;23292525;23489895;23511026;23566228;23777927;23789844;24036077;24055710;24204280;24333266;25011449;7749984;8402893;8537130;8717517;9039770;9171108;9177216;9177217;9184229;9551976 4261 I3L2E5;I3L2P7;P33076;Q66X48 ABBA01006803;ABBA01006804;AC133065;AF000003;AF410154;AMYH02031456;AMYH02031457;AY084054;AY084055;AY699071;BE247223;BM193016;CH471112;JC068895;KF459560;NG_009628;NM_000246;NM_001286402;NM_001286403;NR_104444;U18259;U18288;U31931;U94773;X74301;XM_005255320;XM_005255321;XM_005255323;XM_006720880;XM_006720881;XM_006720882;XM_006720883 AAA88861;AAA88862;AAA92364;AAB92363;AAC39714;AAI72348;AAL04118;AAM15723;AAM15724;AAU06586;CAA52354;CDL97011;EAW85168;EAW85169;EAW85170;EAW85171;EAW85172;EAW85173;EAW85174;NP_000237;NP_001273331;NP_001273332;P33076;XP_005255377;XP_005255378;XP_005255380;XP_006720943;XP_006720944;XP_006720945;XP_006720946 Hs.701991 1690216;1778392;1791798;1791944;1791946;1791948;1791950;1791956;1794514;1794894;2123969;2134994;5016478;5016781;5022578 D1S1423;GDB:434012;PMC125964P1;PMC133907P1;PMC133907P2;PMC133907P3;PMC133907P4;PMC133916P2;PMC316580P8;PMC83901P1;RH65129;RH79123;SHGC-60649;SHGC-67307;STS-U18288 C2TA;CIITAIV;MHC2TA;NLRA MHC class II transactivator;MHC class II transactivator type III;NLR family, acid domain containing;OTTHUMP00000160172;nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing APPROVED protein-coding ENSG00000179583 HGNC:7067 02475 600005 REVIEWED 6484029 CIR1P1 corepressor interacting with RBPJ, 1 pseudogene 1 5 5 5 q33.2 150014479 150015615 - 153938864 153940000 - 154559304 154560440 - 100131740 ABBA01026234;AC112175;AMYH02012505;NG_021866 pseudo HGNC:44011 INFERRED 1352831 CIRBP-AS1 CIRBP antisense RNA 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1 19 19 19 p13.3 1201703 1204491 - 1267470 1270259 - 1267471 1270260 - 737633;6480464;8554872 12477932 15489334;17207965 148046 Q8TBR5 ABBA01002636;AC004221;AC004258;AMYH02035145;BC026041;CH471139;NR_027271 ADQ32242;EAW69526;Q8TBR5 Hs.438829 C19orf23;MGC39338 APPROVED ncrna HGNC:28588 16626 VALIDATED 1319859 CIPC CLOCK-interacting pacemaker INVOLVED IN negative regulation of circadian rhythm (ortholog); negative regulation of transcription, DNA-templated (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; quercetin 14 14 14 q24.3 57603166 57622223 + 77564578 77583630 + 77098235 77117287 + 6480464 11214970;12477932;14702039;15489334;17207965;17310242;18029348;19322201;19414601;21145461;24250222 85457 B3KU75;G3V310;G3V3Y7;G3V405;G3V4V0;G3V5J4;G3V5Y7;Q9C0C6 AB051524;ABBA01030663;AC007375;AC007686;AK024737;AK096603;AK315124;AL834514;AMYH02029566;BC037300;BI546511;CH471061;NM_033426 AAH37300;ADQ31804;BAB21828;BAG37578;BAG53337;CAD39170;EAW81269;EAW81270;NP_219494;Q9C0C6 Hs.709066 1856206;2163546;5109281 A004X08;D1S1425;WI-15644 KIAA1737 CLOCK-interacting circadian protein;CLOCK-interacting protein, circadian;OTTHUMP00000246526;OTTHUMP00000246529;OTTHUMP00000246530;OTTHUMP00000246531;hypothetical protein LOC85457;uncharacterized protein KIAA1737 APPROVED protein-coding ENSG00000198894 HGNC:20365 13890 VALIDATED 1322745 CIRH1A cirrhosis, autosomal recessive 1A (cirhin) This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 53675822 53712260 + 69166499 69202937 + 69132596 69169034 + 1600653;6480464;6907045;7240710;8554872;8699517 12417987 10820129;11045837;11853319;12429849;12477932;14702039;15489334;15635413;15768832;16009940;16225863;16344560;18482256;18781797;19732766;20385600;21139048;21832049;21890473;21906983;21963094;22586326;22797925;22939629;23000965;23752268;24250222;24457600;24654937;8703127 84916 H3BPD7;H3BRM8;H3BSH7;I3L4T9;J3KSE6;J3KSI1;J3KTR0;Q969X6 AB075868;ABBA01025514;ABBA01025515;ABBA01025516;AC009027;AC009131;AC208009;AK027419;AK027445;AK027584;AK027634;AK027675;AK074795;AK310104;AMYH02032271;BC000167;BC009348;BX647265;CA430627;CH471092;DA277545;NG_008278;NM_032830;XM_005256204;XM_005256205 AAH00167;AAH09348;BAB55100;BAB55116;BAB55212;BAB55251;BAB55287;BAB85574;BAC11214;EAW83251;EAW83252;EAW83253;EAW83254;EAW83255;EAW83256;EAW83257;NP_116219;Q969X6;XP_005256261;XP_005256262 Hs.461113 1671151;1701270;1789168;2141591;2142469;2144520 D16S2538E;G65582;RH104264;RH65345;SHGC-60702;SHGC-61081 FLJ14728;FLJ17146;KIAA1988;NAIC;TEX292;UTP4 OTTHUMP00000174891;UTP4, small subunit (SSU) processome component, homolog;cirhin;testis expressed gene 292 APPROVED protein-coding ENSG00000141076 HGNC:1983 08468 604901;607456 REVIEWED 1343841 CIRBP cold inducible RNA binding protein ENCODES a protein that exhibits mRNA 3'-UTR binding; poly(A) RNA binding; small ribosomal subunit rRNA binding; INVOLVED IN mRNA stabilization; positive regulation of translation; response to UV; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; cytoplasmic stress granule (ortholog); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2-methylcholine 19 19 19 p13.3 1203500 1209041 + 1269267 1274809 + 1269266 1274810 + 1580863;6480464;8554872 11574538;11850402;12477932;12819390;14702039;15057824;15075239;15342556;15489334;16189514;16513844;16713569;17332742;17353931;18482256;19158277;19277990;19322201;19738201;21139048;21145461;21832049;21906983;21988832;22113938;22365833;22939629;22990118;23151878;23184937;23437386;23874603;24097189;24244333;24250222;24457600;24583282;9151692;9334257;9422546;9434172 1153 B3KT17;D6W5Y5;K7EIF7;K7EJV5;K7ELL4;K7ELT6;K7ELV6;K7EMY9;K7ENN6;K7ENX8;K7EPM4;K7EQL0;K7EQR7;K7EQX4;K7ER40;Q14011;Q53XX5 AB451225;AB451348;ABBA01002636;AC004258;AF021336;AK094781;AK095781;AK128423;AK304185;AK304470;AK311601;AL133636;AMYH02035145;BC000403;BC000901;BI819825;BM706055;BP195090;BT007210;BU689520;CH471139;CX785176;D78134;DA433715;DA695021;HB645625;NM_001280;NM_001300815;NM_001300829;NR_023312;NR_023313;XM_006722636;XM_006722637;XM_006722638;XR_430127;XR_430128 AAC04895;AAC51787;AAH00403;AAH00901;AAP35874;ABW03323;ABW03670;BAA11212;BAC87434;BAG52929;BAG65065;BAG65284;BAG70039;BAG70162;CBB98487;EAW69520;EAW69521;EAW69522;EAW69523;EAW69524;EAW69525;NP_001271;NP_001287744;NP_001287758;Q14011;XP_006722699;XP_006722700;XP_006722701 Hs.618145;Hs.634522 1666250;1857496;2115171 D19S683E;IB1264;RH11815 CIRP A18 hnRNP;cold inducible RNA-binding protein;cold-inducible RNA-binding protein;glycine-rich RNA binding protein;glycine-rich RNA-binding protein CIRP protein-coding ENSG00000099622 HGNC:1982 08375 602649 VALIDATED 1602899 CIR1 corepressor interacting with RBPJ, 1 ENCODES a protein that exhibits RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (inferred); sequence-specific DNA binding transcription factor activity (inferred); transcription corepressor activity (inferred); INVOLVED IN negative regulation of transcription, DNA-templated; PARTICIPATES IN Notch signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN histone deacetylase complex; nucleus; INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; methyl methanesulfonate 2 2 2 q31.1 168826371 168873879 - 175212878 175260443 - 174348150 174395715 - 6480464;6907045;8554872 10644367;11000236;11222720;11509665;11591653;12477932;15489334;15652350;15815621;17081983;18029348;18663143;19409814;20873783;3031469;9874765 9541 H3BLY3;Q86X95 ABBA01062187;AC018470;AF098297;AK292389;AMYH02005271;AMYH02005272;BC015040;BC021175;BC031018;BC038987;BC046098;BU596189;CH471058;NM_004882;U03644 AAA17853;AAD05243;AAH21175;AAH31018;AAH38987;AAH46098;AAY24216;BAF85078;EAX11144;EAX11145;EAX11146;NP_004873;Q86X95 Hs.632531 1856977;2109149;2127295;2133349 CIR_8954;RH65948;RH69954;RH71192 CIR CBF1 interacting corepressor;CBF1-interacting corepressor;OTTHUMP00000163177;OTTHUMP00000205180;corepressor interacting with RBPJ 1;recepin protein-coding ENSG00000138433 HGNC:24217 05568 605228 VALIDATED 1312971 CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010] 15 15 15 q22 42366412 42381920 - 65488337 65503840 - 65195999 65211502 - 1625347;1580863;6480464;7240710;8554872 15334463 10319588;10601732;11315923;12477932;12483726;12746903;12975309;14962958;15378262;15489334;15864306;16344560;16413503;16453284;17220213;19569011;20724643;22107760;23443559;8125298;8889548;9722583;9722584 8483 O75339 AB022430;ABBA01038859;AC068213;AF035408;AF035455;AK225652;AK225926;AK313352;AL602624;AMYH02030622;AY358904;BC035776;CA503413;CH471082;DB071945;NG_012214;NM_003613 AAC33838;AAF14689;AAH35776;AAQ89263;ABM82198;ABM85386;BAA76692;BAG36154;EAW77717;NP_003604;O75339 Hs.442180 2109145 CILP_8815 CILP-1;HsT18872 OTTHUMP00000164180;cartilage intermediate layer protein 1;cartilage intermediate layer protein 1 C1;cartilage intermediate layer protein 1 C2;cartilage intermediate-layer protein APPROVED protein-coding HGNC:1980 11942 603489;603932 REVIEWED 1626692 CISD3 CDGSH iron sulfur domain 3 CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, Apr 2008] 17 17 17 q12 33547468 33552818 + 36886510 36891858 + 38730257 38735605 + 6480464 12477932;14702039;17376863;17584744;24816145 284106 P0C7P0 ABBA01031903;AC006449;AK097047;AK098433;AMYH02033362;BC062294;CH471152;NM_001136498 EAW60525;NP_001129970;P0C7P0 Hs.713595 1676688;1690226;1729474;1770360;1778508;1852458;1857646;2154058;2156319 A007D13;D17S518;RH12584;RH17373;RH41914;RH45610;RH78331;RH91164;RH91451 Miner2 CDGSH iron sulfur domain-containing protein 3, mitochondrial;CDGSH iron-sulfur domain-containing protein 3, mitochondrial;mitoNEET related 2;mitoNEET-related protein 2 APPROVED protein-coding HGNC:27578 611933 VALIDATED 7822457 CISTR chondrogenesis-associated transcript 12 q13.13 53750447 53757034 - 16344560;23093776 102216268 ABBA01008359;AC076968;AMYH02026528;DA125942;HY042141;NR_104332;NR_104333 Hs.742074 re52431 CISTR-ACT;CISTRACT ncrna ENSG00000260492 HGNC:49426 VALIDATED 1605581 CISD1P1 CDGSH iron sulfur domain 1 pseudogene 1 2 2 2 p24.1 19888349 19889044 + 20025973 20026668 + 19826212 19826907 + 130500 ABBA01018487;AC013400;AMYH02003363;NG_005172 CISD1B;ZCD1B APPROVED pseudo HGNC:29611 INFERRED 735426 CISH cytokine inducible SH2-containing protein The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 3 3 3 p21.3 50616686 50622064 - 50643885 50649262 - 50606454 50611831 - 1580863;6480464;6484113;6907045;7240710;8554872 10514520;10517496;10585430;10902923;10969179;11032736;11713228;12076535;12077274;12477932;12586763;12618484;12648219;14630083;14707129;15231748;15470047;15489334;15644415;16273093;16344560;16684815;16961462;17666591;18420585;18508766;18647318;18820827;19592657;19595407;19622774;19807022;19913121;20484391;20628086;21234523;21383382;21988832;22033525;22213096;22817871;23426819;23867815;23898208;24131863;7796808;9465889;9774439 1154 Q9NSE2 ABBA01024543;AC096920;AF035946;AF035947;AF132297;AK313850;AMYH02006773;BC031590;BC064354;BF511692;CA435538;CH471055;D83532;DA957793;NG_023194;NM_013324;NM_145071;XM_005264846;Z77852 AAD28471;AAF97410;AAH31590;AAH64354;AAQ13420;BAA92328;BAG36578;EAW65127;EAW65128;EAW65129;EAW65130;NP_037456;NP_659508;Q9NSE2;XP_005264903 Hs.655334 1685504;1795566 CISH_308;RH94332 BACTS2;CIS;CIS-1;G18;SOCS OTTHUMP00000210810;OTTHUMP00000210811;cytokine-inducible SH2-containing protein;cytokine-inducible inhibitor of signaling type 1B;suppressor of cytokine signaling APPROVED protein-coding ENSG00000114737 HGNC:1984 03897 602441;607948;611162;614383 REVIEWED 1319915 CISD1 CDGSH iron sulfur domain 1 This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Feb 2012] 10 10 10 q21.1 53293811 53313947 + 60028862 60050752 + 58269102 58290992 + 737633;6480464 12477932 15489334;16344560;16385451;17207965;17376863;17584744;17766439;17766440;17905743;18047834;18781797;19214198;19388667;19574633;20099820;20877624;20932062;21402934;21531159;21591687;21636891;21788481;22351774;22939629;23068103;23128233;23271805;23503661;23959881;24250222;24295216;24403080;24457600;24816145 55847 Q9NZ45 ABBA01019436;AC016396;AF220049;AI025360;AK312017;AMYH02023156;AY960578;BC005962;BC007043;BC008474;BC059168;CH471083;DA417986;NM_018464;XM_006717916 AAF67642;AAH05962;AAH07043;AAH08474;AAH59168;AAY32336;ADQ33168;BAG34955;EAW54162;EAW54163;EAW54164;EAW54165;EAW54166;NP_060934;Q9NZ45;XP_006717979 Hs.370102 1668360;2148661 SHGC-58373;WI-11408 C10orf70;MDS029;MGC14684;ZCD1 CDGSH iron sulfur domain-containing protein 1;CDGSH iron-sulfur domain-containing protein 1;OTTHUMP00000019629;mitoNEET;zinc finger CDGSH-type domain 1;zinc finger, CDGSH-type domain 1 APPROVED protein-coding ENSG00000122873 HGNC:30880 12587 611932 VALIDATED 1603794 CISD2 CDGSH iron sulfur domain 2 The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011] 4 4 4 q24 101089752 101113582 + 103749224 103813964 + 102828134 102892807 + 6480464;7240710;8554872;8699517 10739754;11076863;11230166;11256614;11317648;12477932;14724730;15489336;16344560;16381901;17376863;17584744;17846994;18029348;19322201;19580816;19946888;20010695;20649540;21139048;21832049;21890473;21963094;22412018;22779921;23959881;24159190;24250222;24816145 493856 D6RCF4;I3L1N9;Q8N5K1 AA424361;ABBA01063703;AC018797;AC083826;AF213884;AI277147;AK292134;AMYH02009820;BC020831;BC032300;BX537971;CH471057;DB351048;DB565768;DN993861;NG_008636;NM_001008388;XM_005263040 AAH32300;BAF84823;CAD97935;CAL37687;CAL38263;EAX06148;EAX06149;NP_001008389;Q8N5K1;XP_005263097 Hs.444955;Hs.745013 1339601;1340166;1729744;1784958;1848399;5094670;5113833;7185718 D4S1531;D4S1564;D4S246;PMC310890P8;RH16020;SHGC-111455;WI-22115 ERIS;Miner1;NAF-1;WFS2;ZCD2 CDGSH iron sulfur domain-containing protein 2;CDGSH iron-sulfur domain-containing protein 2;OTTHUMP00000219576;endoplasmic reticulum intermembrane small protein;mitoNEET related 1;mitoNEET-related 1 protein;nutrient-deprivation autophagy factor-1;zinc finger, CDGSH-type domain 2 APPROVED protein-coding HGNC:24212 17413 604928;611507 REVIEWED 1323189 CKAP2 cytoskeleton associated protein 2 This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013] 13 13 13 q14 33946444 33967702 - 53029495 53050763 + 52455360 52476631 + 6480464;8554872 11149944;11230166;11234418;12477932;12500535;12942315;14702039;15057823;15324660;15489334;16061649;16565220;16876122;17339342;17376772;18029348;18779650;19369249;19641375;20458174;21139048;21328343;21368580;21890473;21906983;22020800;22465120;23737987;24238125;24280143;24816145;7566098;9771967 26586 C9J649;C9J7Y4;Q8WWK9 AA308726;ABBA01006537;AF177227;AI499799;AJ429398;AK001611;AK022982;AK027103;AK299083;AL136848;AL359513;AMYH02028046;AY062261;AY062262;BC010901;BC066920;BC105806;BC130296;BC136332;BM541375;CH471274;DB512858;EC439890;EF560732;NM_001098525;NM_001286686;NM_001286687;NM_018204;XM_005266343;XM_005266344;Y15758 AAG33675;AAH10901;AAI05807;AAI30297;AAI36333;AAL47212;AAL47213;ABQ59042;ACE87819;ACT64373;ADR83110;BAA91788;BAB14345;BAG61147;CAB66782;CAC17466;CAD22295;EAW55889;EAW55890;NP_001091995;NP_001273615;NP_001273616;NP_060674;Q8WWK9;XP_005266400;XP_005266401 Hs.444028;Hs.594461 1667729;1745127;1768640;1788684;1857214;2125381;2137776;5021359;5021490;5111506 A008Q05;D22S1040;GDB:594944;RH106549;RH47265;RH71287;RH71387;STS-X75342;WI-12628;WI-19223 DKFZp686L1238;FLJ10749;LB1;TMAP;se20-10 CTCL tumor antigen se20-10;OTTHUMP00000018455;OTTHUMP00000018457;OTTHUMP00000215090;OTTHUMP00000215091;cytoskeleton-associated protein 2;tumor- and microtubule-associated protein;tumor-associated microtubule-associated protein APPROVED protein-coding ENSG00000136108 HGNC:1990 10832 611569 REVIEWED 1354399 CITED4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 The protein encoded by this intronless gene belongs to the CITED family of transcriptional coactivators that bind to several proteins, including CREB-binding protein (CBP) and p300, via a conserved 32 aa C-terminal motif, and regulate gene transcription. This protein also interacts with transcription factor AP2 (TFAP2), and thus may function as a co-activator for TFAP2. Hypermethylation and transcriptional downregulation of this gene has been observed in oligodendroglial tumors with deletions of chromosomal arms 1p and 19q, and associated with longer recurrence-free and overall survival of patients with oligodendroglial tumors. [provided by RefSeq, Aug 2011] 1 1 1 p34.2 39609002 39610292 - 41326728 41328018 - 40861056 40862346 - 634742;1580863;6480464 11744733 12477932;15342390;15489334;15572674;17311001;18722883;20734064;21755341 163732 Q96RK1 ABBA01023159;ABBA01023160;AC119677;AF362074;AF466291;AMYH02000864;BC035496;BC052559;CH471059;CS589327;CS589365;CS684677;CS684715;NM_133467 AAH35496;AAH52559;AAK64235;AAL73989;CAN89457;CAN89458;CAP11404;CAP11405;EAX07195;NP_597724;Q96RK1 Hs.355820 MRG-2 MSG1-related protein 2;OTTHUMP00000009206;cbp/p300-interacting transactivator 4;transcriptional co-activator 4 APPROVED protein-coding ENSG00000179862 HGNC:18696 06011 606815 VALIDATED 1344879 CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] X X X q13.1 71864707 71870256 - 71521488 71527037 - 72301638 72307187 - 1580863;6480464 10327051;10644012;10722728;11310794;11581164;11744733;12477932;15342556;15489334;15843474;16864582;17336183;17710162;17938205;21172805;21449767;22703800;22889411;23746764;23935526;8901575;9434189;9683535;9707553;9721210 4435 C9J1P6;C9J300;C9J7P8;C9JRD8;H7C2S6;Q99966 AB451286;AB451418;ABBA01046213;ABBA01046214;AI217516;AL135749;AMYH02039703;BC004240;BP247232;CH471213;N27803;NG_015847;NM_001144885;NM_001144886;NM_001144887;NM_004143;U65092;XM_005262266;XM_005262267 AAC51113;AAH04240;ABM83910;ABM87231;BAG70100;BAG70232;EAW71818;EAW71819;EAW71820;NP_001138357;NP_001138358;NP_001138359;NP_004134;Q99966;XP_005262323;XP_005262324 Hs.40403 1656094;2134923;2217156 CITED1_3083;RH35925;SGC35157 MSG1 OTTHUMP00000023529;OTTHUMP00000023530;OTTHUMP00000023531;OTTHUMP00000023532;OTTHUMP00000023533;OTTHUMP00000023534;OTTHUMP00000023535;cbp/p300-interacting transactivator 1;melanocyte-specific gene 1;melanocyte-specific protein 1 APPROVED protein-coding ENSG00000125931 HGNC:1986 02146 300149 REVIEWED 9586255 CKAP2P1 cytoskeleton associated protein 2 pseudogene 1 14 14 14 1439029 1442155 - 21578465 21581591 - 21110306 21113432 - 100420763 ABBA01061240;AL161668;AMYH02028829;NG_027249 pseudo HGNC:49923 INFERRED 1602064 CKAP2L cytoskeleton associated protein 2-like ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; aflatoxin B1 2 2 2 q13 106880980 106907789 - 113495444 113522254 - 112737867 112764677 - 6480464;8554872 10737800;12477932;14702039;16344560;18723088;20468071;21139048;23000965 150468 F8WBE0;Q8IYA6 ABBA01074249;AC079922;AC112235;AK097948;AK292530;AK302875;AK316241;AL832036;AMYH02004592;AMYH02004593;BC036217;BF742811;CH471217;DA506407;NM_152515 AAH36217;AAX93053;AAY14923;BAC05202;BAF85219;BAG64055;BAH14612;EAW73602;EAW73603;NP_689728;Q8IYA6 Hs.434250 1855831;2155916;2171442;5015619;5020948 D11S3114;D2S1820;D2S2625;G35510;SHGC-58083 FLJ40629;MGC39683 OTTHUMP00000161988;cytoskeleton-associated protein 2-like;radial fiber and mitotic spindle protein;radmis protein-coding HGNC:26877 08285 VALIDATED 1605408 CKAP5 cytoskeleton associated protein 5 This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 11 p11.2 46913051 47013611 - 46765084 46867859 - 46743534 46846308 - 6480464;8554872 11076968;11903063;12221128;12421765;12477932;12549820;12569123;12852856;14603251;14702039;14718566;15302935;15342556;15703215;16462731;17376965;17474147;17643375;18468998;18663358;18809577;19079262;19373773;19505873;19738201;19946888;19996280;20200978;20360068;20508983;20566684;20694011;20838383;21078624;21139048;21890473;21906983;22268729;22298430;22586326;22891263;22952844;23000965;23251535;23443559;23444224;23500468;23824909;24273164;24332808;24457600;24515614;24816145;7788527;7790358;8536682;8889548 9793 E9PQH5;H0YCF6;H0YDX5;H0YEK7;Q14008 ABBA01060728;ABBA01060729;ABBA01060730;ABBA01060731;AC021573;AC115088;AMYH02024711;AMYH02024712;AMYH02024713;AW504660;BC017856;BC035554;BC070136;BC111043;BC120869;BC120870;BM980015;BP282525;BU661430;CB052595;CH471064;D43948;KF510373;NG_029924;NM_001008938;NM_014756;X92474 AAH17856;AAH35554;AAH70136;AAI11044;AAI20870;AAI20871;BAA07892;CAA63212;EAW67976;NP_001008938;NP_055571;Q14008 Hs.201253;Hs.737795 2129741;2174050;2174101;2185129;5016907 D11S1219;D11S4335;D11S4375;RH25324;STS-D43948 CHTOG;FLJ35359;KIAA0097;MSPS;TOG;TOGp;ch-TOG OTTHUMP00000233662;OTTHUMP00000233663;colonic and hepatic tumor over-expressed gene protein;colonic and hepatic tumor overexpressed gene protein;cytoskeleton-associated protein 5 APPROVED protein-coding ENSG00000175216 HGNC:28959 10830 611142 REVIEWED 1345512 CKBE creatine kinase, ectopic expression 1156 HGNC:1992 123270 734120 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 6 6 6 q23.3 140433459 140435848 - 139693392 139695787 - 139372255 139374650 - 634741;1581188;734781;1580863;5147850;5147852;6480464;6484113;7240710;8699517;8554872 10552932;11823447;16434029;19607804;19825367 10593900;11581164;11597177;11694877;11744733;12477932;12586840;12762840;12778114;12960175;14633989;15051727;15154850;15489334;16287139;16341674;16619037;16675452;17906695;17932483;18054336;18984668;19319572;19322201;19642106;19862010;19904269;20139978;20392269;20654020;20686565;20932315;21098220;21165656;21660965;22709740;22735262;22814619;23082118;23212831;23222517;23251661;23263863;23720494;23811274;24097068;24456003;8889548;8901575;9434189;9811838;9887100 10370 D9ZGF1;Q99967 AA400897;AA767624;ABBA01025794;AF109161;AF129290;AI087283;AL592429;AMYH02014600;BC004377;BG900380;BI763038;BM763150;BM851650;CF126189;CH471051;HM015589;NG_016169;NM_001168388;NM_001168389;NM_006079;U65093 AAC51114;AAD10055;AAF01263;AAF01264;AAH04377;ABM84222;ABM87730;ADL14510;EAW47891;EAW47892;EAW47893;EAW47894;EAW47895;NP_001161860;NP_001161861;NP_006070;Q99967 Hs.82071 1774895;1797404;2141335;5492367 CITED2_2297;D6S2114;Meis2;RH12860 ASD8;MRG-1;MRG1;P35SRJ;VSD2 MSG-related protein 1;MSG1-related gene 1;OTTHUMP00000017315;cbp/p300-interacting transactivator 2;melanocyte-specific gene 1-related gene 1 APPROVED protein-coding ENSG00000164442 HGNC:1987 04245 602937;614431;614433 REVIEWED 1604069 CKBP1 creatine kinase B pseudogene 1 16 16 16 q11.2 31384543 31386704 - 46876370 46878531 - 46842458 46844619 - 1676982;2883200 1157 ABBA01013766;AC007225;AMYH02031968;M60806;NG_001535 pseudo HGNC:1993 INFERRED 1313304 CIZ1 CDKN1A interacting zinc finger protein 1 The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 9 9 9 q34.1 101579231 101617558 - 130928344 130966662 - 128166065 128204383 - 1580863;6480464 10369878;10529385;12477932;12824700;14702039;15231747;15585571;16341674;17081983;17108141;17508423;18081865;18583151;18654987;19531213;20360068;20831784;21890473;22447717;23074256;23145069;23813719;24126760;24250222;24457600 25792 B4E0A3;B7Z3U7;F5H2X7;F6VD24;F6WSM2;H0Y5D5;Q5SYW2;Q96KB7;Q9BTG3;Q9ULV3 AB030835;ABBA01043870;ABBA01043871;ABBA01043872;AF159025;AF234161;AK023978;AK027287;AK292713;AK296363;AK303288;AK303636;AK316393;AL590708;AMYH02021710;BC004119;BC021163;BM742088;BM743935;BM757318;CH471090;EF441870;EF467915;NG_032983;NM_001131015;NM_001131016;NM_001131017;NM_001131018;NM_001257975;NM_001257976;NM_012127;XM_005251886;XM_005251887;XM_005251888;XM_005251889;XM_005251890;XM_005251891;XM_005251892;XM_005251893;XM_006717036;XM_006717037;XM_006717038;XM_006717039;XM_006717040;Y17452;Y17453;Y17454 AAF23231;AAF37882;AAH04119;AAH21163;ABO43037;ABR23005;BAA85783;BAB14750;BAB55017;BAF85402;BAG64365;BAG64643;BAH12333;BAH14764;CAB44345;CAB44346;CAB44347;EAW87752;EAW87753;EAW87754;EAW87755;EAW87756;EAW87757;EAW87758;NP_001124487;NP_001124488;NP_001124489;NP_001124490;NP_001244904;NP_001244905;NP_036259;Q9ULV3;XP_005251943;XP_005251944;XP_005251945;XP_005251946;XP_005251947;XP_005251948;XP_005251949;XP_005251950;XP_006717099;XP_006717100;XP_006717101;XP_006717102;XP_006717103 Hs.212395 1644167;1770877 G09849;SHGC-6051 LSFR1;NP94;ZNF356 CDKN1A-interacting zinc finger protein 1;OTTHUMP00000022241;OTTHUMP00000022242;OTTHUMP00000022243;OTTHUMP00000022245;OTTHUMP00000022246;cip1-interacting zinc finger protein;nuclear protein NP94;zinc finger protein 356 APPROVED protein-coding ENSG00000148337 HGNC:16744 13061 611420 REVIEWED 731048 CIT citron rho-interacting serine/threonine kinase This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 12 12 12 q24 119756651 119948207 - 120123595 120315095 - 119685790 119877291 - 1580863;734780;6480464;8554872 11086988 10231032;10862698;12411428;12477932;12506198;12773565;14702039;15122253;15983625;16236794;16431929;16541075;16565220;17081983;17118119;17474715;17534152;19322201;19328558;19596686;19913121;19946888;20084519;20369383;20379614;20628086;21139048;21748597;21849473;21906983;22293177;22761715;22939629;23444367;24163370;24457600;24816145;8543060;9792683;9870942 11113 F5H4K4;H0YGG8;H7BYJ3;O14578 AB023166;ABBA01020076;ABBA01020077;ABBA01020078;ABBA01020079;ABBA01020080;ABBA01020081;ABBA01020082;AC002563;AC004813;AC079317;AK123136;AMYH02027350;AMYH02027351;AMYH02027352;AMYH02027353;AMYH02027354;AMYH02027355;AY209000;AY257469;AY681966;BC008127;BC047647;CH471054;KF511174;NG_029792;NM_001206999;NM_007174;XM_005253829;XM_006719206 AAB71327;AAI56530;AAI72522;AAP13528;AAP43922;AAV87216;BAA76793;EAW98155;EAW98156;EAW98157;EAW98158;NP_001193928;NP_009105;O14578;XP_005253886;XP_006719269 Hs.119594 1334755;1338129;1341328;1652918;1694986;1696868;1792136;1792138;1792140;1854666;2106457;2140971;2149329;2150947;2152897;2158122;7185063 CIT_4577;D12S1666;D12S1993;D12S321;D12S395;G15656;G17631;G29083;G44706;G49179;PMC137543P1;PMC137543P2;PMC137543P3;RH15678;RH45006;RH48058 CRIK;KIAA0949;STK21 OTTHUMP00000166060;OTTHUMP00000166061;OTTHUMP00000239872;OTTHUMP00000239873;citron (rho-interacting, serine/threonine kinase 21);citron Rho-interacting kinase;rho-interacting, serine/threonine kinase 21;serine/threonine kinase 21;serine/threonine-protein kinase 21 APPROVED protein-coding ENSG00000122966 HGNC:1985 09289 605629 REVIEWED 730974 CKB creatine kinase, brain The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008] 14 14 14 q32 84040224 84043398 - 103985995 103989196 - 103519658 103522859 - 1598441;1300048;1580863;6480464;6907045 12039490 10893433;1117316;11487543;12160938;12477932;15342556;15489334;15996648;1602151;16027165;16189514;16196087;16384981;16424007;16981706;17036164;17148442;17683050;18029348;18157088;18309274;1840537;18552983;18566107;18682038;18781797;18793185;18977227;19060904;19135240;19165527;19337554;19338310;19405953;19471022;19615732;20302626;20391533;20460152;20520825;20588136;20706999;20721618;20923681;21044950;21081666;21139048;21145461;21308735;21319273;21565611;21890473;21900206;21906983;21931810;21963094;21980054;21987572;22053931;22079093;22088263;22321011;22418839;22586326;22623148;22863883;22885020;22939629;23049898;23876027;23882694;24337577;2771648;2792236;2828370;2883200;2914937;3034271;3514665;3692484;3899413;466791;6846432;6998544;7057800;7808454;8186255;8889548;9365161;9748661 1152 G3V2I1;G3V461;G3V4N7;H0YJG0;H0YJJ7;H0YJK0;P12277;V9HWH2 ABBA01048422;ABBA01048423;AK290101;AK298198;AK312282;AL133367;AMYH02029926;BC001190;BC004914;BC008323;BC010002;BC019259;BC019281;BG720434;BM684665;BP213119;CH471061;CR542268;DQ333313;EU794629;FJ224337;L47647;M16364;M16451;M21236;M21243;M22354;M22356;NM_001823;X15334 AAA52024;AAA76850;AAA76851;AAA76852;AAC31758;AAH01190;AAH04914;AAH08323;AAH10002;AAH19259;AAH19281;ABC67465;ACI46029;ACJ13683;ADZ15755;BAF82790;BAG35211;BAG60468;CAA33389;CAG47064;EAW81820;EAW81821;EAW81822;NP_001814;P12277 Hs.173724 1728987;2113878;2145412;2181513;5106361 Egfr-rs;RH17667;RH77930;UniSTS:479983;WI-8982 B-CK;BCK;CKBB;HEL-211;HEL-S-29 OTTHUMP00000246847;creatine kinase B chain;creatine kinase B-type;creatine kinase-B;epididymis luminal protein 211;epididymis secretory protein Li 29 APPROVED protein-coding ENSG00000166165 HGNC:1991 00423 123280 REVIEWED 1323735 CKAP4 cytoskeleton-associated protein 4 ENCODES a protein that exhibits poly(A) RNA binding; PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN extracellular vesicular exosome; lipid particle; INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; cobalt dichloride 12 12 12 q23.3 106297004 106307057 - 106631659 106641713 - 106237881 106247935 - 1580863;6480464;6907045 11402071;12477932;12913003;14741744;15476176;15489334;15623521;15703217;16169070;16398404;16546853;17030514;1730740;17620599;17975794;18296695;18333895;18468998;18708633;18781797;18816836;19056867;19144824;19322201;19531213;19615732;19861536;20156774;20184665;20562859;20706999;20808887;20870746;21111237;21139048;21143984;21145461;21150319;21655359;21820419;21890473;21906983;21907836;21988832;22056955;22190034;22329826;22406481;22438586;22966120;22990118;23000965;23047949;23108156;23254330;23665508;23913486;23921950;24244333;24583282;24654937;24816145;7673362;8125298;8314870;8566419 10970 F8VVU0;Q07065 ABBA01053170;ABBA01053171;AC079174;AK123693;AK223563;AMYH02027127;BC015436;BC025341;BC037578;BC067357;BC082972;BC094824;CH471054;NM_006825;X69910 AAH25341;AAH67357;AAH82972;AAH94824;BAD97283;BAG53938;CAA49535;EAW97770;EAW97771;EAW97772;EAW97773;NP_006816;Q07065 Hs.74368 1663676;2136314;2145073;2168839;2173034;2173036;2217158 A006F36;CKAP4_3780;D12S1903;G20771;RH17418;STS-X69910;WI-20313 CLIMP-63;ERGIC-63;MGC99554;p63 63 kDa membrane protein;63-kDa cytoskeleton-linking membrane protein;OTTHUMP00000242784;transmembrane protein (63kD), endoplasmic reticulum/Golgi intermediate compartment;type-II transmembrane protein p63 protein-coding ENSG00000136026 HGNC:16991 16717 VALIDATED 5131385 CKLF-CMTM1 CKLF-CMTM1 readthrough This locus represents naturally occurring read-through transcription between the neighboring CKLF (chemokine-like factor) and CMTM1 (CKLF-like MARVEL transmembrane domain containing 1) genes on chromosome 16. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011] 16 16 q21 66586466 66613038 + 66552563 66579135 + 6480464 20967262;22505724;24250222;8889548 100529251 E9PIV8;E9PLU7;E9PSG2;H0YDF2 ABBA01025408;AC010542;AMYH02032208;BM929895;FY211334;FY212695;NM_001202509;NM_001204098;NM_001204099 NP_001189438;NP_001191027;NP_001191028 Hs.698621 OTTHUMP00000235185;OTTHUMP00000235186 APPROVED protein-coding ENSG00000254788 HGNC:39977 VALIDATED 7248167 CKMT2-AS1 CKMT2 antisense RNA 1 5 5 5 q14.1 76437654 76501656 - 80533384 80597388 - 81237565 81301569 - 14702039;16344560 100131067 ABBA01062054;AC008411;AC020901;AC026436;AK092460;AK096014;AK096680;AMYH02011679;AMYH02011680;DB051602;HG498134;HG498135;HG498136;NR_034121;NR_034122;NR_034123 Hs.655855 ncrna ENSG00000247572 HGNC:48997 VALIDATED 1344929 CKS1B CDC28 protein kinase regulatory subunit 1B CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008] 1 1 1 q21.2 128018143 128022750 + 154947118 154951725 + 154974642 154979249 + 6480464;6907045 11231585;11463388;11907280;12140288;12473461;12477932;12529174;12813041;14622140;15014502;15146197;15489334;15579456;15772084;15980415;16168119;16188652;16209941;16338391;16712791;16924241;16979657;17303695;17377499;17409098;17464290;18239684;18471975;18519678;18922157;19161979;19483727;19584057;19615732;19786724;19845855;19866239;20360068;20379614;20421271;20465575;20682791;20688354;20733051;20733055;20737481;20930946;21117028;21145461;21697511;21890473;21917729;22047644;2227411;22302047;22505724;22939629;23000965;23301842;23443559;23455922;23535732;23589337;23602568;23879533;23910095;24169086;24250222;24816145;7791211;8601310;8697818;9276444;9774639 1163 P61024;Q5T178;Q5T179;Q9BZU3 ABBA01016724;AF274941;AF274943;AF279897;AK307066;AK311769;AL451085;AMYH02001935;BC007751;BC015629;BC070319;BC070320;BQ883992;BT007196;CB161621;CH471121;CN347951;NG_029028;NM_001826;NR_024163;X54941 AAH07751;AAH15629;AAH70319;AAH70320;AAK07518;AAK07520;AAK07553;AAP35860;ABM81626;ABM83898;ABM84810;ABM86884;ABW03287;ABW03288;BAG34712;CAA38702;EAW53160;EAW53161;EAW53162;EAW53163;EAW53164;EAW53165;EAW53166;NP_001817;P61024 Hs.374378 5015961;5020911;5022576;5037552 D15S1477;D17S1978;D1S1361;D8S2279 CKS-1;CKS1;PNAS-16;PNAS-18;ckshs1 CDC2-associated protein CKS1;CDC28 protein kinase 1;CDC28 protein kinase 1B;NB4 apoptosis/differentiation related protein;OTTHUMP00000035541;PNAS-143;cell division control protein CKS1;cyclin-dependent kinases regulatory subunit 1 APPROVED protein-coding ENSG00000173207 HGNC:19083 00299 116900 REVIEWED 1606001 CKLF chemokine-like factor The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CMTM1 (CKLF-like MARVEL transmembrane domain containing 1).[provided by RefSeq, Feb 2011] 16 16 16 q21 51093039 51106728 + 66586466 66603832 + 66552563 66566287 + 6480464 11042152;11415443;12183067;12411060;12477932;12975309;14672709;15489334;16344560;18069042;18294340;18976975;19460752;19946888;20137403;20237496;20392439;21890473;22505724;23253812;23983609;24250222 51192 E9PLU7;I7GPS8;Q5BJH6;Q9UBR5 AA234074;ABBA01025408;AC010542;AF057306;AF096895;AF135380;AF135381;AF145216;AF151058;AK290307;AK301240;AMYH02032208;AY358999;AY665769;BC004380;BC091478;BU189908;CH471092;DA113473;DA804889;FB746680;NM_001040138;NM_016326;NM_016951;NM_181640;NM_181641 AAF06722;AAF19350;AAF19599;AAF19600;AAF21255;AAF36144;AAH04380;AAH91478;AAQ89358;AAT70694;ABM84314;ABM87707;BAF82996;BAG62809;CAT04648;EAW83019;EAW83020;EAW83021;EAW83022;NP_001035228;NP_057410;NP_058647;NP_857591;NP_857592;Q9UBR5 Hs.15159;Hs.698621 1738827;1771759 D16S2884;SHGC-36487 C32;CKLF1;CKLF2;CKLF3;CKLF4;HSPC224;UCK-1 OTTHUMP00000174791;OTTHUMP00000174792;OTTHUMP00000174793;OTTHUMP00000174794;OTTHUMP00000235182;OTTHUMP00000235183;chemokine-like factor 1;chemokine-like factor 2;chemokine-like factor 3;chemokine-like factor 4;transmembrane proteolipid APPROVED protein-coding ENSG00000217555 HGNC:13253 16718 REVIEWED 737472 CKM creatine kinase, muscle The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 42615239 42631814 - 45809671 45826302 - 45306413 45323044 - 1598441;1300048;1580863;1359082;6480464;6907045;8554872 12039490;12069495 10089465;10893433;11922612;12432079;12477932;12601813;12972258;15057824;15161933;15489334;15504039;15967462;16037885;16079652;16087811;16092153;16120572;16289162;16344560;16373479;16810680;1690725;16981706;17000714;17303563;17478608;17885020;18055044;18157088;18222470;18801770;18810980;18833644;19039220;19125286;19337554;19422651;19523464;19670037;19913121;20157874;20525694;20536908;20558199;20588136;20588308;20591515;20628086;20634891;20669347;20952631;21139048;21426302;21448949;21456469;21516340;21565611;21706313;21768101;21873942;21931810;22592287;2309701;23122801;23274523;2331374;23436474;23876027;23993326;2903158;2914937;3031982;3778496;7057800;7805577;7808454;8524781;9748661 1158 B2R892;P06732 ABBA01040920;ABBA01040921;AC005781;AJ572902;AK129878;AK300730;AK313281;AMYH02036195;AMYH02036196;AMYH02036197;AY585238;BC007462;BT006793;CH471126;DA896166;DC385783;M14780;M16440;M21487;M21494;NM_001824;XM_005258497 AAA52025;AAA52026;AAA96609;AAC62841;AAH07462;AAP35439;AAS79321;ABM84627;ABM92156;BAG36089;BAG62403;EAW57337;NP_001815;P06732;XP_005258554 Hs.334347 1684405;1734640;2106993;2124230;5016336 CKM_7763;D19S639E;RH69074;RH80908;STS-M14780 CKMM;M-CK creatine kinase M chain;creatine kinase M-type;creatine kinase-M APPROVED protein-coding ENSG00000104879 HGNC:1994 00426 123310 REVIEWED 1343148 CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q13.3 76433409 76466487 + 80528605 80562217 + 81232982 81266398 + 1580863;6480464;6907045 10462222;10674997;10748055;10893433;11768757;11874479;12401781;12477932;12601813;14702039;15044463;15489334;16020522;16169070;16344560;17289898;1917943;20877624;21988832;2324105;24816145;2914937;7808456;8276398;9312135;9746319 1160 D6R998;D6RHV3;P17540 ABBA01062054;AC020901;AC026436;AK122769;AK313293;AMYH02011679;AW300490;BC029140;CH471084;CR450315;DA826840;DB479765;DC308656;J05401;NM_001099735;NM_001099736;NM_001825;XM_005248420 AAA60561;AAH29140;ABM81707;ABW03302;BAG36100;BAG53719;CAG29311;EAW95865;EAW95866;EAW95867;NP_001093205;NP_001093206;NP_001816;P17540;XP_005248477 Hs.80691 1645771;1647736;1657716;1700680;1712264;1735482;2112210;2156258 D5S1603E;D5S2780;G54040;RH103963;RH69170;SHGC-36959;SHGC-57332;WI-17791 S-MtCK;SMTCK;mib-CK OTTHUMP00000147542;OTTHUMP00000222351;basic-type mitochondrial creatine kinase;creatine kinase S-type, mitochondrial;sarcomeric mitochondrial creatine kinase APPROVED protein-coding ENSG00000131730 HGNC:1996 00425 123295 REVIEWED 1603442 CKMT1A creatine kinase, mitochondrial 1A Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008] 15 15 15 q15 20840616 20841195 + 43985084 43991420 + 43692886 43699222 + 6907045;6480464 10737943;10748055;10893433;11602586;11768757;11874479;12401781;12477932;15489334;17028143;19415690;20302626;20877624;21145461;22190034;2324105;23880370;24457600;24583282;24816145;2914937;3400641;6584077;7525559;7808456;7896282;8125298;8692275;8923416;9746319 548596 C9J8F6;C9JT96;F8WDP9;P12532 ABBA01017275;AC011330;AK223365;AK295776;AK316052;AK316124;AK316319;AMYH02030323;BC001926;BC006467;BM923431;BT006628;NM_001015001;XM_005254498 AAH01926;AAH06467;AAP35274;BAD97085;BAG58600;BAH14423;BAH14495;BAH14690;NP_001015001;P12532;XP_005254555 Hs.654988;Hs.741420 1801296;1803792;1803908;1806094;1806726;1807396;1807472;1812900;1828932;1829346;1829504;1833608;1932940;1932950;1933182;1933184;1933186;1933188;1933190;1933192;1933194;1933196;2113854;2140353;2157942;2208882;2208884;2208886;2208888;2208890;2208892;2208894;2208988;2208990;2208992;5491238 AB060241;ECD01520;ECD02804;ECD02867;ECD04000;ECD04320;ECD04669;ECD04708;ECD07463;ECD15593;ECD15804;ECD15883;ECD17948;MARC_3102-3103:991936731:1;REN37302;REN37307;REN37424;REN37425;REN37426;REN37427;REN37428;REN37429;REN37430;REN37431;RH44541;WI-15193;stSG627798;stSG627799;stSG627800;stSG627801;stSG627802;stSG627803;stSG627804;stSG627879;stSG627880;stSG627881 CKMT1;CKMT1B;FLJ50967;U-MtCK;UMTCK;mia-CK OTTHUMP00000066270;OTTHUMP00000066271;acidic-type mitochondrial creatine kinase;creatine kinase U-type, mitochondrial;creatine kinase, mitochondrial 1 (ubiquitous);ubiquitous mitochondrial creatine kinase APPROVED protein-coding ENSG00000223572 HGNC:31736 18683 613415 REVIEWED 1348595 CKS1BP2 CDC28 protein kinase regulatory subunit 1B pseudogene 2 10 10 10 q11.1 29751853 29752571 + 29986864 29987582 + 29697935 29698653 + 246714 ABBA01034363;AL159170;AMYH02022550;NG_001578;NG_033998 bA192N10.2 pseudo HGNC:24232 INFERRED 1345536 CKMT1B creatine kinase, mitochondrial 1B Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008] 15 15 15 q15 20779315 20779894 + 43885055 43891604 + 43593054 43599406 + 1580863;6480464;6907045 10737943;10748055;11602586;11768757;11874479;12401781;12477932;14702039;15489334;15840729;16166745;16952984;20302626;20877624;21081666;21145461;21565611;22190034;22939629;22982673;2324105;24163370;24174293;24337577;24457600;24816145;2914937;3400641;6584077;7525559;7808456;7896282;8125298;8692275;8889548;8923416;9746319 1159 C9J6W7;C9J995;C9JFS8;C9JJX8;C9JSQ1;E9PCP8;F8WCN3;F8WFC7;P12532 ABBA01049634;AC011330;AK094322;AK293685;AK293790;AK293939;AK293961;AK294002;AK294063;AK294735;AK294908;AK296271;AK296472;AK308770;AMYH02030317;BC108652;BC121001;BC121002;BI118196;BU674851;J04469;NM_020990;XM_005254150 AAA98744;AAI08653;AAI21002;AAI21003;ABM84311;ABM87704;BAG57125;BAG57203;BAG57316;BAG57333;BAG57364;BAG57409;BAG57880;BAG57995;BAG58981;BAG59114;NP_066270;P12532;XP_005254207 Hs.741420 1801296;1803792;1803908;1806094;1806726;1807396;1807472;1812900;1828932;1829412;1833608;1932934;1932936;1932938;1932940;1932942;1932944;1932946;1932948;1932950;1933186;1933190;1933192;1933194;2113854;2140353;2157942;2208886;2208894;2208992;5491238 AB060241;ECD01520;ECD02804;ECD02867;ECD04000;ECD04320;ECD04669;ECD04708;ECD07463;ECD15593;ECD15837;ECD17948;MARC_3102-3103:991936731:1;REN37299;REN37300;REN37301;REN37302;REN37303;REN37304;REN37305;REN37306;REN37307;REN37426;REN37428;REN37429;REN37430;RH44541;WI-15193;stSG627800;stSG627804;stSG627881 CKMT;CKMT1;CKMT1A;U-MtCK;UMTCK;mia-CK OTTHUMP00000066275;OTTHUMP00000200125;acidic-type mitochondrial creatine kinase;creatine kinase U-type, mitochondrial;creatine kinase, mitochondrial 1 (ubiquitous);ubiquitous mitochondrial creatine kinase APPROVED protein-coding ENSG00000237289 HGNC:1995 00424 123290 REVIEWED 1350804 CKS1BP1 CDC28 protein kinase regulatory subunit 1B pseudogene 1 14 14 14 q32.2 76745096 76745889 + 96689374 96690167 + 96223037 96223830 + 317780 ABBA01048595;AL355102;AMYH02029802;NG_002475 CKS1BP APPROVED pseudo HGNC:20004 INFERRED 1352719 CKS1BP3 CDC28 protein kinase regulatory subunit 1B pseudogene 3 10 5 5 q12.2 29751853 29752577 + 61807588 61808309 - 62511761 62512482 - 246715 ABBA01048362;AC008917;AC114982;AMYH02011391;NG_001579 pseudo HGNC:24233 INFERRED 4109589 CKS1BP4 CDC28 protein kinase regulatory subunit 1B pseudogene 4 11 11 11 q14.1 80230020 80230826 + 82920355 82921161 + 83209313 83210119 + 100499259 ABBA01017362;AP000873;NG_023440 pseudo HGNC:17395 INFERRED 1352289 CLA1 cerebellar ataxia 1 (autosomal recessive) ASSOCIATED WITH HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 (inferred); Spinocerebellar Ataxia, Autosomal Recessive 2 (inferred) 7240710 10528257;4838888 1165 HGNC:2002 213200;610762 1350268 CLA3 cerebellar ataxia 3 (cerebellar parenchyma disorder 1) ASSOCIATED WITH Spinocerebellar ataxia, autosomal recessive 6 (inferred) 7240710 1167 1299965;1335976 D20S119;D20S471 HGNC:2004 608029 1346967 CLAM cerebellar atrophy with progressive microcephaly ASSOCIATED WITH Pontocerebellar Hypoplasia Type 3 (inferred) 7240710 12771259 373073 7186484 D7S669 HGNC:20394 608027 4888741 CKS1BP5 CDC28 protein kinase regulatory subunit 1B pseudogene 5 5 5 143818706 143819525 + 144439143 144439962 + 100526793 ABBA01026357;AC109441;AMYH02012392;NG_027929 pseudo HGNC:17640 INFERRED 1349113 CLA2 cerebellar ataxia 2 (X-linked) ASSOCIATED WITH Spinocerebellar Ataxia, X-Linked 1 (inferred) 7240710 1166 HGNC:2003 302500 1348442 CKS1BP7 CDC28 protein kinase regulatory subunit 1B pseudogene 7 8 8 8 q21.13 77561654 77562418 - 81556687 81557451 - 80644452 80645216 - 15014502;15452136;15772084;17499794;18498131;18625720;19360356;19483727;19686743;19786724;8697818 137529 ABBA01004061;AC022598;AMYH02018306;NG_001577 CKS1;CKS1A CDC28 protein kinase regulatory subunit 1A APPROVED pseudo HGNC:1999 INFERRED 1345540 CLC Charcot-Leyden crystal galectin Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 37023465 37030234 - 40221893 40228669 - 39731253 39738029 - 1580863;6480464;7240710 10529229;11834744;12031912;12477932;12714580;1373430;15057824;15489334;1577491;16015083;16457599;17166282;17502455;19497882;19650845;19758173;20237496;20858065;2160562;2160563;21716316;22880030;23894747;2709814;6511787;8400237;8419478;8747464;9119387;942977 1178 Q05315 ABBA01040734;AC005393;AC006133;AMYH02036100;AV715261;AV762486;AW292557;BC119711;BC119712;CH471126;FJ613334;FJ613335;L01664;L01665;NM_001828;U68398;XM_005258501 AAA36190;AAC28912;AAC37530;AAC51157;AAI19712;AAI19713;ACR09636;ACR09637;EAW56914;NP_001819;Q05315;XP_005258558 Hs.889 1683062;1756783;2130757 RH71350;RH80211;SHGC-143915 GAL10;Gal-10;LGALS10;LGALS10A;LPPL_HUMAN;MGC149659 Charcot-Leyden crystal protein;eosinophil lysophospholipase;galectin 10;galectin-10;lectin, galactoside-binding, soluble, 10;lysolecithin acylhydrolase APPROVED protein-coding ENSG00000105205 HGNC:2014 08351 153310;610313 REVIEWED 1347770 CLASRP CLK4-associating serine/arginine rich protein INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; lead(0) 19 19 19 q13.3 42346597 42378501 + 45542298 45574214 + 45039040 45070956 + 6480464 12169693;12477932;12975309;14623875;14702039;15302935;15489334;15604093;15761153;16189514;16713569;17081983;19773279;20811636;21832049;22094256;22990118;23602568 11129 F5H0Q6;K7EKC9;K7EKR8;K7EM61;K7EP11;Q8N2M8 ABBA01040907;ABBA01040908;ABBA01040909;AC011489;AF042800;AF042810;AK074590;AK094681;AK293333;AL080189;AMYH02036188;AMYH02036189;AY358944;BC013178;BC080554;BC131496;CH471126;KF456584;NM_001278439;NM_007056;NR_103529;XM_006722991 AAC82339;AAC82340;AAH80554;AAQ89303;BAG52910;BAG56849;EAW57317;EAW57318;EAW57319;NP_001265368;NP_008987;Q8N2M8;XP_006723054 Hs.466917 2110701;5024039 D16S325;RELB_8590 CLASP;FLJ90109;SFRS16;SWAP2 Clk4 associating SR-related protein;OTTHUMP00000196564;splicing factor, arginine/serine-rich 16;splicing factor, arginine/serine-rich 16 (suppressor-of-white-apricot homolog, Drosophila);suppressor of white apricot homolog 2;suppressor of white-apricot homolog 2 APPROVED protein-coding ENSG00000104859 HGNC:17731 11552 VALIDATED 3160709 CKS1BP6 CDC28 protein kinase regulatory subunit 1B pseudogene 6 X X X p21.2 34757051 34757858 + 30635485 30636292 + 30617368 30618175 + 652904 ABBA01072964;AC005913;AMYH02039114;NG_012762 pseudo HGNC:24608 INFERRED 1348782 CKS2 CDC28 protein kinase regulatory subunit 2 CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008] 9 9 9 q22 62508275 62513777 + 91926113 91931618 + 89311198 89316703 + 1580863;6480464 12477932;14622140;15489334;15504738;15900300;15989971;16169070;16189514;17336302;17388661;18471975;18498131;18625720;19034516;19483727;19786724;19845855;20360068;20920335;21139048;21617860;21672358;21697511;21906983;21948653;21988832;2227411;22505724;23000965;23121546;23301842;23443559;23455922;23602568;23861775;24250222;24816145;8211159;8697818 1164 P33552 ABBA01004612;AF506708;AL160054;AMYH02021186;BC006458;BC020345;BT006630;CH471089;CR407630;CR542118;CS185526;HI519560;NM_001827;X54942 AAH06458;AAM22232;AAP35276;CAA38703;CAG28558;CAG46915;CAJ42707;CBX54361;EAW62762;NP_001818;P33552 Hs.83758 1663329;2183374;5491318 MARC_9703-9704:996688537:1;SGC31294;SHGC-11955 CKS-2;CKSHS2 CDC28 protein kinase 2;CKS1(S. cerevisiae Cdc28/Cdc2 kinase subunit) homolog-2;OTTHUMP00000021616;cyclin-dependent kinases regulatory subunit 2 APPROVED protein-coding ENSG00000123975 HGNC:2000 00300 116901 REVIEWED 1312594 CLCA2 chloride channel accessory 2 The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Since this protein is expressed predominantly in trachea and lung, it is suggested to play a role in the complex pathogenesis of cystic fibrosis. It may also serve as adhesion molecule for lung metastatic cancer cells, mediating vascular arrest and colonization, and furthermore, it has been implicated to act as a tumor suppressor gene for breast cancer. [provided by RefSeq, Jul 2008] 1 1 1 p22.3 85133768 85166240 + 86889769 86922241 + 86424086 86456558 + 6480464;8554872 10362588;10437792;10554024;10584316;10737800;10758170;11071307;11149902;11262615;11320086;12110680;12477932;12612194;14512419;15174051;15707651;16158324;16873362;18950845;19423540;19654313;20406964;20438785;21909135;22431922;22990203 9635 Q9UQC9 AB026833;ABBA01045619;ABBA01045620;AC119749;AF043977;AF114429;AF127980;AK290348;AK307937;AMYH02001406;BC041096;BE062109;CH471097;CS223381;HH935296;HI939026;HI939139;HI939252;HI987322;HI988477;HI988590;JA032845;JA033052;JA033653;JA142875;JA188626;JA188739;JA282313;JA288778;JA421412;NM_006536 AAD40367;AAD48397;AAF21968;AAH41096;BAA77810;BAF83037;CAJ46930;CBX36868;CBY79740;CBY79759;CBY79778;CBY88734;CBY88762;CBY88781;CCA61670;CCA61689;CCA61708;CCA64035;CCA64156;CCA64175;CCA65385;CCA65416;CCD32745;EAW73187;NP_006527;Q9UQC9 Hs.241551 1657429;1721183;1724031;1781812;2109153;5094350 CLCA2_8968;G54627;G59429;RH119026;SHGC-156130;SHGC-75095 CACC;CACC3;CLCRG2;CaCC-3;FLJ97885;hCLCA2;hCaCC-3 CLCA family member 2, chloride channel regulator;OTTHUMP00000011911;calcium-activated chloride channel family member 2;calcium-activated chloride channel protein 3;calcium-activated chloride channel regulator 2;calcium-activated chloride channel-2;chloride channel regulator 2;chloride channel, calcium activated, family member 2 APPROVED protein-coding ENSG00000137975 HGNC:2016 04923 604003 REVIEWED 1352211 CLCA3P chloride channel accessory 3, pseudogene This gene is a transcribed pseudogene belonging to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. This gene contains several nonsense codons compared to other family members that render the transcript a candidate for nonsense-mediated mRNA decay (NMD). Therefore, this gene is unlikely to be protein-coding. [provided by RefSeq, Jan 2009] 1 1 1 p22.3 85343591 85364697 + 87099959 87121059 + 86634276 86655376 + 1580863 10095065;10584316;11071307;12477932 9629 Q9Y6N3 ABBA01045613;AF043976;AL356270;AMYH02001406;NR_024604 AAD23734;Q9Y6N3 Hs.673847 1709208 SHGC-85784 CLCA3 APPROVED pseudo ENSG00000153923 HGNC:2017 05065 604337 REVIEWED 1322173 CLASP1 cytoplasmic linker associated protein 1 CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008] 2 2 2 q14.2-q14.3 115420003 115731696 - 122095352 122407052 - 121337776 121649476 - 1580863;6480464 10899121;11076968;11290329;12221128;12477932;12837247;12852856;14504462;14702039;15302935;15324660;15489334;15631994;15815621;15928712;16000324;16145243;16462731;16824950;16866869;16914514;17113391;17342765;17353931;17543864;17979178;19322201;19561070;19701196;19913121;19946888;20360068;20508983;20628086;20852589;21139048;21822276;21890473;21906983;22307330;22939629;23000965;23383273;23727231;23783028;23940118;24250222;24255178;24816145;24859005;7790358;9734811 23332 A2RU21;C9J151;C9JP76;F5GWS0;F8WA11;H0Y5T1;H0YHV8;Q7Z460 AB014522;ABBA01032240;ABBA01032241;ABBA01032242;ABBA01032243;ABBA01032244;ABBA01032245;ABBA01032246;AC012447;AC013399;AC018737;AC079449;AF347693;AJ288057;AK074338;AK091140;AK123216;AK294922;AK297259;AK297420;AK299331;AK301814;AK302393;AMYH02004674;AMYH02004675;AMYH02004676;AMYH02004677;AY425956;BC032563;BC112940;BC132723;BC144107;BE328429;BX648523;BX648933;CH471103;CR749627;CR933722;NM_001142273;NM_001142274;NM_001207051;NM_015282;XM_006712373;XM_006712374;XM_006712375;XM_006712376;XM_006712377;XM_006712378;XM_006712379;XM_006712380;XM_006712381;XM_006712382;XM_006712383;XM_006712384;XM_006712385 AAH32563;AAI12941;AAI32724;AAI44108;AAQ15051;AAR07949;AAX88872;BAA31597;BAH11926;BAH12531;BAH12576;BAH13003;BAH13560;BAH13694;CAC35156;CAH18421;CAI46251;EAW95252;EAW95253;EAW95254;EAW95255;NP_001135745;NP_001135746;NP_001193980;NP_056097;Q7Z460;XP_006712436;XP_006712437;XP_006712438;XP_006712439;XP_006712440;XP_006712441;XP_006712442;XP_006712443;XP_006712444;XP_006712445;XP_006712446;XP_006712447;XP_006712448 Hs.469840;Hs.708183 1651117;1654497;1664344;1685922;1696926;1700060;1853034;2125799;2161486;2173564;2184815;5017771;5023733 AU048745;CLASP1;D2S2023;D2S2769;RH101932;RH103643;RH41982;RH47590;RH80927;SHGC-33842;STS-AA004622;WI-14100;WIAF-1467 DKFZp686D1968;DKFZp686H2039;FLJ33821;FLJ41222;KIAA0622;MAST1;MGC131895 CLIP-associating protein 1;OTTHUMP00000203754;OTTHUMP00000207290;cytoplasmic linker-associated protein 1;hOrbit1;multiple asters 1;multiple asters homolog 1;protein Orbit homolog 1 APPROVED protein-coding ENSG00000074054 HGNC:17088 09322 605852 VALIDATED 733933 CLASP2 cytoplasmic linker associated protein 2 ENCODES a protein that exhibits microtubule plus-end binding; INVOLVED IN microtubule anchoring; microtubule nucleation; microtubule organizing center organization; FOUND IN cell cortex; cytoplasmic microtubule; Golgi apparatus; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; all-trans-retinoic acid 3 3 3 p22.3 33481199 33702919 - 33537737 33759705 - 33496245 33718356 - 1580863;6480464 10899121;11290329;12477932;12837247;14702039;15207236;15489334;15631994;15928712;15955847;16344560;16484223;16824950;16866869;16914514;17113391;17353931;17543864;17979178;19289791;19615732;19632184;19701196;19924516;19946888;20219685;20360068;20379614;21139048;21706016;21782439;21890473;22113938;22145905;22307330;22467876;22990118;23000965;23035100;23045552;23184937;23398456;23455922;23537643;23940118;23943871;24127197;24250222;24255178;24337577;24816145;24859005;9734811 23122 B2RTR1;B3KR06;C9J668;D6RBU8;E3W994;E7ENG2;E7ERI8;E7EW49;F5H604;H7C4I5;H7C4M5;H7C4X8;H7C5M8;J3KR49;O75122 AB014527;ABBA01024900;ABBA01024901;ABBA01024902;ABBA01024903;ABBA01024904;AC093114;AC113170;AC132515;AJ288059;AK024770;AK090716;AK091451;AK293963;AK294345;AK297322;AL137636;AMYH02006521;AMYH02006522;AMYH02006523;BC011530;BC029035;BC140778;BX640725;CH471055;DA321422;DQ200868;DQ200869;NM_001207044;NM_015097;XM_006713036;XM_006713037;XM_006713038;XM_006713039;XM_006713040;XM_006713041;XM_006713042;XM_006713043;XM_006713044;XM_006713045;XM_006713046;XM_006713047;XM_006713048;XM_006713049;XM_006713050;XM_006713051;XM_006713052;XM_006713053;XM_006713054;XM_006713055;XM_006713056;XM_006713057;XM_006713058;XM_006713059;XM_006713060 AAH11530;AAH29035;AAI40779;ABB13628;ABB13629;BAA31602;BAB14995;BAC03667;BAG52218;BAG57335;BAG57614;BAG59785;CAB70852;CAC35158;CAE45842;EAW64459;EAW64460;EAW64461;EAW64462;EAW64463;EAW64464;EAW64465;EAW64466;EAW64467;NP_001193973;NP_055912;O75122;XP_006713099;XP_006713100;XP_006713101;XP_006713102;XP_006713103;XP_006713104;XP_006713105;XP_006713106;XP_006713107;XP_006713108;XP_006713109;XP_006713110;XP_006713111;XP_006713112;XP_006713113;XP_006713114;XP_006713115;XP_006713116;XP_006713117;XP_006713118;XP_006713119;XP_006713120;XP_006713121;XP_006713122;XP_006713123 Hs.108614 1340316;1644141;1657616;1662994;1677306;1722773;1857468;1857470;2141216;2168147;2171914 A001Y47;D3S3370;D3S3518;D3S3987;G16571;G19803;G60325;NIB555;RH12892;RH92587;WI-14630 CLIP-associating protein 2;OTTHUMP00000209953;OTTHUMP00000215958;OTTHUMP00000215959;OTTHUMP00000216018;cytoplasmic linker-associated protein 2;hOrbit2;multiple asters (Mast)-like homolog 2;protein Orbit homolog 2 protein-coding ENSG00000163539 HGNC:17078 12054 605853 VALIDATED 1314775 CLCA1 chloride channel accessory 1 This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008] 1 1 1 p22.3 85178525 85209980 + 86934526 86965977 + 86468843 86500294 + 1580863;4145653;4145655;4145656;4145657;1331524;4145661;6480464;8554872 11296262;14985398;15218996;15318163;17637221;17898169 10437792;10617765;10737800;10758170;11071307;11842292;11994272;12110680;12408984;12568493;14512419;14702039;15490240;15919655;16023076;16148052;16344560;16465045;16470849;17110338;17426222;17621552;17698377;19307298;19423540;19530997;19834535;19913121;20179644;20406964;20438785;20464982;20542744;20628086;21762802;22731784;23112050;23593331;9828122 1179 A8K7I4 AA508854;ABBA01045619;AF039400;AF039401;AF127036;AK024970;AK097057;AK291999;AK300858;AK314375;AL122002;AMYH02001406;AW361520;AW750670;CH471097;DA428844;NM_001285 A8K7I4;AAC95428;AAC95429;AAD25487;AAI41452;AAI56806;BAF84688;BAG37002;BAG53415;BAG62508;EAW73186;NP_001276 Hs.194659 CACC;CACC1;CLCRG1;CaCC-1;FLJ95147;GOB5;hCLCA1;hCaCC-1 CLCA family member 1, chloride channel regulator;OTTHUMP00000011907;calcium-activated chloride channel family member 1;calcium-activated chloride channel protein 1;calcium-activated chloride channel regulator 1;calcium-dependent chloride channel-1;chloride channel regulator 1;chloride channel, calcium activated, family member 1 APPROVED protein-coding ENSG00000016490 HGNC:2015 04880 603906 REVIEWED 8547998 CLCN3P1 chloride channel, voltage-sensitive 3 pseudogene 1 9 9 9 14967785 14981685 - 15034168 15048064 - 15034170 15048066 - 100419056 ABBA01065289;ABBA01065290;ABBA01065291;AL592293;AMYH02019203;NG_023786 pseudo HGNC:49775 INFERRED 733366 CLCN2 chloride channel, voltage-sensitive 2 This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 3 3 3 q27.1 182504875 182520290 - 184063973 184079439 - 184346185 184361651 - 704390;704404;1580863;6480464;7240710;8554872;8699517 8811102 10198195;10888596;11306429;11880269;11976342;12477932;12601004;12843258;15010473;15252188;15272009;15388342;15464978;15489334;15505175;15507145;15508929;16049054;16344560;16469788;16932951;17580110;17762171;17882904;18801843;19191339;19232516;19574231;19710712;19711355;20187760;21906983;21956164;22321011;22405205;22613974;23275563;23707145;23934342;7795595 1181 H7C0Q8;P51788 AA524434;ABBA01058446;AC078797;AF026004;AK298952;AK302389;AK302759;AMYH02008305;AU132760;BC021578;BC072004;BX089717;CH471052;DB533341;DC403930;NG_016422;NM_001171087;NM_001171088;NM_001171089;NM_004366;S77770;XM_006713488;XM_006713489;XM_006713490 AAB34722;AAB88807;AAH21578;AAH72004;BAG61051;BAG63705;BAG63970;EAW78248;EAW78249;EAW78250;NP_001164558;NP_001164559;NP_001164560;NP_004357;P51788;XP_006713551;XP_006713552;XP_006713553 Hs.436847 1342408;1671404;1740259;2122661;2173309 D3S1682;D3S3725;HSC2IC072;SHGC-77635;WI-11757 CIC-2;CLC2;ECA2;ECA3;EGI11;EGI3;EGMA;EJM6;EJM8;LKPAT;clC-2 OTTHUMP00000210513;OTTHUMP00000210514;OTTHUMP00000210515;OTTHUMP00000210516;chloride channel 2;chloride channel protein 2 APPROVED protein-coding ENSG00000114859 HGNC:2020 02782 600570;607628;615651 REVIEWED 1351138 CLCA4 chloride channel accessory 4 The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Alternative splicing results in multiple transcript variants, only one of which is thought to be protein coding. [provided by RefSeq, Dec 2008] 1 1 1 p22.3 85256746 85290417 + 87012759 87046437 + 86547015 86580754 + 1580863;6480464;8554872 10437792;10758170;11071307;12477932;12975309;15490240;16344560;19460752;23073314;24386311;8889548 22802 Q14CN2 ABBA01045614;ABBA01045615;ABBA01045616;ABBA01045617;ABBA01045618;AF127035;AK000072;AK000138;AK293766;AK307785;AK307898;AK314430;AL122002;AMYH02001406;AY358470;BC113687;BC113689;CB851641;CH471097;DA668017;DA761219;NM_012128;NR_024602;XM_006710453 AAD48398;AAI13688;AAI13690;AAQ88834;ADR83285;BAA90969;BAH11591;EAW73184;EAW73185;NP_036260;Q14CN2;XP_006710516 Hs.567422 CaCC;CaCC2;MGC142247;MGC142249;caCC-2;hCLCA4;hCaCC-2 OTTHUMP00000011915;calcium-activated chloride channel family member 4;calcium-activated chloride channel protein 2;calcium-activated chloride channel regulator 4;chloride channel regulator 4;chloride channel, calcium activated, family member 4 APPROVED protein-coding ENSG00000016602 HGNC:2018 16719 REVIEWED 734112 CLCN1 chloride channel, voltage-sensitive 1 The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 7 7 7 q35 137850084 137885958 + 143013219 143049097 + 143316126 143352004 + 704389;1580863;6480464;7240710;8554872;8699517 7951242 10198195;10215406;10690989;10720929;11076863;11113225;11840191;11933197;12150905;12150906;12477932;12661046;12691663;12853948;1379744;14657503;14718533;15241802;15311340;15623702;15786415;16027167;16321142;16567465;16854622;17097617;17107341;17664348;17693413;17826470;17990293;17998485;18035046;18220014;18227271;18263754;18321245;18337100;18337730;18624224;18807109;18816629;19211598;19220292;19697366;19773279;19913121;19949657;20047568;20120005;20301529;20379614;20398785;20399394;20628086;21045501;21204798;21385601;21413926;22094069;22106717;22187529;22246887;22407275;22521272;22641783;22649220;22689570;22790975;23097607;23113340;23152584;23408874;23417379;23424641;23483815;23603549;23739125;23771340;23893571;23933576;24064982;3983641;7581380;7735894;7874130;7981681;7981750;8112288;8301644;8533761;8571958;8741388;8845168;9122265;9566422;9736777 1180 H7C0N6;H7C1F4;P35523 ABBA01034134;ABBA01034135;AC073342;AC093673;AMYH02016934;AY103154;AY103155;AY103156;BC112156;BC113495;BC143796;CH236959;CH471198;L08263;M97820;NG_009815;NM_000083;NR_046453;Z25587;Z25752;Z25753;Z25757;Z25760;Z25762;Z25768;Z25872;Z25884 AAI11587;AAI12157;AAI13496;AAS07500;CAA80996;CAA81103;CAB56792;CAB56814;EAL23786;EAW51858;EAW51859;NP_000074;P35523 Hs.121483 1743785;1743851;1743853;1743855;1743857;1743859;1743861;1743863;1743865;1743867;1743869;1743871;1743873;1743875;1743877;1743879;1743881;1743883;1743885;1743887;1743889;1743891;1743893;1745821;1745823;1745825;1745827;1745829;1745831;1745833;1745835;1745837;1745839;1745841;1745843;1745845;1745847;1745849;1745851;1745853;1745855;1745857;2108727;2120640;2135018;2146877 CLCN1;CLCN1_7765;GDB:1317254;GDB:373603;GDB:374988;GDB:375007;GDB:375010;GDB:375013;GDB:375016;GDB:375019;GDB:375022;GDB:375025;GDB:375028;GDB:375031;GDB:375034;GDB:375037;GDB:375040;GDB:375043;GDB:375046;GDB:375049;GDB:375052;GDB:375055;GDB:375058;GDB:375061;GDB:375064;GDB:375067;GDB:677002;GDB:677007;GDB:677010;GDB:677013;GDB:677018;GDB:677053;GDB:677067;GDB:677070;GDB:677073;GDB:677079;GDB:677082;GDB:677085;GDB:677099;GDB:677102;GDB:677105;GDB:677108;GDB:677111;GDB:677114;GDB:677117;RH71311 CLC1;MGC138361;MGC142055;clC-1 OTTHUMP00000202223;chloride channel 1, skeletal muscle;chloride channel protein 1;chloride channel protein, skeletal muscle APPROVED protein-coding ENSG00000188037 HGNC:2019 00320 118425;160800;255700 REVIEWED 1604384 CLCC1 chloride channel CLIC-like 1 ENCODES a protein that exhibits chloride channel activity (inferred); INVOLVED IN chloride transmembrane transport (inferred); FOUND IN endoplasmic reticulum; intracellular membrane-bounded organelle; membrane; INTERACTS WITH (S)-nicotine; 2-methylcholine; arsenous acid 1 1 1 p13.3 107741688 107775523 - 109472130 109506121 - 108929508 108963499 - 6480464 11279057;11826282;12477932;14702039;15342556;16344560;18029348;19946888;20416077;21145461;21890473;21897333;21963094;21987572;22053931;9872452 23155 Q5T1P5;Q96S66 AB018304;AB052915;AB052916;AB052917;AB052918;ABBA01068357;AK090563;AL449266;AL550290;AMYH02001702;AX965653;BC002939;BP282246;BQ685798;CH471122;CS265768;DA247339;NM_001048210;NM_001278202;NM_001278203;NM_015127 AAH02939;ABM83625;ABM86867;BAA34481;BAB59018;BAB79261;BAB79262;BAB79263;BAG52186;CAF06563;CAJ78403;EAW56345;EAW56346;EAW56347;EAW56348;EAW56349;NP_001041675;NP_001265131;NP_001265132;NP_055942;Q96S66 Hs.658489 1663594;1681470;1683910;1722273;1768979;1774998;1775685;1846897;2109367;2152566;2154684;2170165;2177687;5015404;5016478;5020946;5024413;5037552;5109281 A004S40;D1S1425;D8S2279;G60047;GDB:434012;GPSM2_9599;L17705;L17877;L17971;NIB1477;RH71239;RH98217;SHGC-37685;SHGC-58248;SHGC-75269;SHGC-75285;SHGC-75294;SHGC-75299;WI-18680 KIAA0761;MCLC;RP11-475E11.6 Mid-1-related chloride channel 1;Mid1-related chloride channel;OTTHUMP00000013438;OTTHUMP00000013440;OTTHUMP00000013442;chloride channel CLIC-like protein 1;mid-1-related chloride channel protein 1 protein-coding ENSG00000121940 HGNC:29675 17471 VALIDATED 730986 CLCN3 chloride channel, voltage-sensitive 3 This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 4 4 4 q33 167874695 167975138 + 170541672 170644338 + 169620521 169723187 + 734783;1580863;6480464;8554872 12059962 10198195;11076863;11230166;11274166;11306429;11967229;12183454;12471024;12477932;12842831;12843258;15073168;15342556;15489336;15596438;16033995;16344560;16381901;16522634;17360969;17869465;17882904;17908687;17976378;17977943;18077605;18986326;19946888;20139089;20945353;21071705;21115901;21378974;21445064;21792908;22049206;22108225;22371056;22496242;23006728;23270726;23345219;23408563;23873092;24284495;7665160;9521585;9678416;9843494 1182 B3KXK0;D6RDZ6;D6RIX3;E9PE15;H0Y8Z8;P51790 AA780395;AB019542;ABBA01070342;AC084724;AC106878;AF029346;AF086418;AF172729;AK127483;AK304362;AL117599;AMYH02010482;BC026256;BC054877;BC058818;BC136510;BP284718;BX647119;CH471056;DA102505;NG_029731;NM_001243372;NM_001243374;NM_001829;NM_173872;X78520;XM_005262726 AAB95161;AAD51034;AAH54877;AAI36511;AAI46698;BAC54560;BAG54512;BAH14168;CAA55280;CAA55281;CAL37829;EAX04782;EAX04783;EAX04784;EAX04785;EAX04786;NP_001230301;NP_001230303;NP_001820;NP_776297;P51790;XP_005262783 Hs.481186;Hs.736017 1649761;1675035;1675826;1678577;1771796;1846998;1851689;2121195;2147069;2156943;2171015;2175550;2176292;2177502;2182669;2183067;2187116;2187118;2187120 A002B34;D4S2506E;D4S2510E;D4S2563E;D4S2677;G19897;RH91155;SHGC-50268;SHGC-50487;SHGC-51266;SHGC-51377;SHGC-59347;SHGC-59505;SHGC-59606;SHGC-59636;SHGC-59697;SHGC-67333;SHGC4-1562;STS-R65780 CLC3;ClC-3;DKFZp564I0463 H(+)/Cl(-) exchange transporter 3;OTTHUMP00000219460;OTTHUMP00000219503;OTTHUMP00000219505;OTTHUMP00000219506;chloride channel 3;chloride channel protein 3;chloride transporter ClC-3 APPROVED protein-coding ENSG00000109572 HGNC:2021 02785 600580 REVIEWED 1342594 CLCN4 chloride channel, voltage-sensitive 4 The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012] X X X p22.3 14296240 14376955 + 10124985 10205700 + 10156945 10237660 + 1580863;6480464 10198195;10564087;12477932;15057754;15342556;16034421;16129671;16176272;17023393;19364886;19546591;20087350;21354396;23647072;7759088;8069296;8125298;8619474;8661129;9110174 1183 E9PFB5;G3XAG5;P51793 AB019432;ABBA01070799;ABBA01070800;ABBA01070801;ABBA01070802;ABBA01070803;ABBA01070804;ABBA01070805;ABBA01070806;ABBA01070807;ABBA01070808;ABBA01070809;ABBA01070810;ABBA01070811;AC002364;AC003666;AC121345;AF052117;AF170492;AK225287;AK289564;AK299611;AMYH02038845;AMYH02038846;AMYH02038847;BC036068;BC130278;BP310547;CH471074;NG_012496;NM_001256944;NM_001830;X77197 AAC83175;AAD50981;AAH36068;AAI30279;ADR83252;BAA77327;BAF82253;BAH13080;CAA54417;EAW98777;EAW98778;NP_001243873;NP_001821;P51793 Hs.495674 1340030;1658686;1664071;1704992;1722481;1767891;1849860;1849862;2155112;2164582;2217160;5095060 A004U24;A005P03;A008T30;CLCN4;CLCN4_3951;DXS6975E;DXS7108;G20389;G60164;SHGC-78004;STS-AA018252;STS-X77197 CLC4;ClC-4;ClC-4A;MGC163150 H(+)/Cl(-) exchange transporter 4;OTTHUMP00000022893;OTTHUMP00000022895;chloride channel 4;chloride channel protein 4;chloride transporter ClC-4 APPROVED protein-coding ENSG00000073464 HGNC:2022 02362 302910 REVIEWED 736095 CLCNKB chloride channel, voltage-sensitive Kb The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 1 1 1 p36 14850148 14863702 + 16370231 16383821 + 16043736 16057326 + 1600683;1600684;1300379;1580863;6480464;7240710;8554872;8699517 11102542;15148291;16003175 10906158;11734858;11865110;12472765;12477932;14502078;14675050;14702039;15044642;15531551;15671602;16344560;16391491;16849430;16902263;17137217;17143181;17510212;17622951;17652939;17997379;18094726;18648499;19058262;19096086;19226700;19807735;19913121;20467438;20628086;20805576;21479528;21631963;21644212;21865213;22578033;23345488;23703872;24863058;8041726;8544406;8812470;9326936 1188 A8K8H0;P51801;Q5T5Q6 ABBA01004683;ABBA01004684;AK098217;AK292335;AL355994;AMYH02000377;AMYH02000378;BC020873;BC033806;CH471167;DA369686;DA424588;DA623867;DA624942;DA627682;DA628551;DA633177;NG_013079;NM_000085;NM_001165945;S80315;U93879;XM_005245733;XM_006710069;XM_006710070;Z30644 AAB35898;AAB65149;AAH20873;BAF85024;BAG53595;CAA83121;EAW51764;EAW51765;EAW51766;NP_000076;NP_001159417;P51801;XP_005245790;XP_006710132;XP_006710133 Hs.352243 1698900 RH103019 CLCKB;ClC-K2;ClC-Kb;MGC24087;hClC-Kb OTTHUMP00000011120;OTTHUMP00000011121;chloride channel Kb;chloride channel protein ClC-Kb;chloride channel, kidney, B APPROVED protein-coding ENSG00000184908 HGNC:2027 03607 602023;607364;613090 REVIEWED 1313372 CLCN6 chloride channel, voltage-sensitive 6 This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012] 1 1 1 p36 10979829 11016824 + 11866153 11903201 + 11806096 11843144 + 6480464 10198195;10500249;11306429;12168954;12370778;12477932;15489334;16344560;16710414;16751776;17534424;17897319;19430483;19729601;19898482;19913121;20379614;20416077;20466723;20628086;21060006;21273288;21890473;23000965;23443559;7584044;8543009;9224655;9565675 1185 P51797;Q5SNW4 ABBA01003060;AF009257;AF398930;AK289999;AK294764;AK307098;AL021155;AL953897;AMYH02000300;BC050457;BC117420;BC117424;BC143844;CH471130;D28475;DA229615;DA935587;NG_008766;NM_001256959;NM_001286;NR_046428;R20538;X83378;X96391;X99472;X99473;X99474;X99475 AAB69287;AAI17421;AAI17425;AAN40862;ADR83387;BAA05836;BAF82688;BAG57898;CAA58292;CAA65255;CAA67835;CAA67836;CAA67837;CAA67838;EAW71710;EAW71711;EAW71712;EAW71713;EAW71714;EAW71715;EAW71716;NP_001243888;NP_001277;P51797 Hs.193043 1671979;1681201;1691828;1854249;2160400;2168524;2180107;2181895;2217162;5491487 AL033967;CLCN6_3953;G30984;G34853;MARC_15621-15622:1017176151:1;RH25282;RH44595;RH70928;SHGC-35004;SHGC-74236 CLC-6;KIAA0046 OTTHUMP00000002410;OTTHUMP00000002411;OTTHUMP00000002412;OTTHUMP00000002413;OTTHUMP00000002414;OTTHUMP00000042609;OTTHUMP00000042610;OTTHUMP00000042611;chloride channel 6;chloride channel protein 6;chloride transport protein 6 APPROVED protein-coding ENSG00000011021 HGNC:2024 04102 602726 REVIEWED 1350902 CLCP1 Charcot-Leyden crystal protein pseudogene 1 22 22 22 q11.21 1525701 1526308 - 17903292 17903899 - 17424244 17424851 - 266626 ABBA01001448;AC004019;AMYH02037998;FO681548;NG_002369;NG_033989 pseudo HGNC:19257 INFERRED 733029 CLCN5 chloride channel, voltage-sensitive 5 This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] X X X p11.23-p11.22 53756528 53932992 + 49687225 49863892 + 49922615 50099235 + 1302221;704404;628538;1580863;6480464;7240710;8554872;8699517 12475763;7874126 10198195;12477932;12631345;12631358;12637640;12886045;12904289;13679301;14569459;14675051;14702039;15086899;15489223;15571186;15692680;15702377;15719255;15772651;16034421;16344560;16686597;16807762;16822791;17195847;17262170;17897319;18019214;18025833;18029348;18184518;18322545;18540256;19019917;19131966;19546586;19546591;19657328;19673950;19713962;19806368;19940036;20049483;20421284;20501796;20513761;20680351;21139048;21305656;21890473;21906983;22083641;22267722;22695891;22735364;22824269;22876375;23029130;23047739;23211344;23226131;23566014;23572577;23824909;24099800;24250222;7753256;8099916;8111383;8530041;8559248;8575751;9062355;9169421;9187673;9259268;9602200;9653142;9931332 1184 A8K4H5;B3KRR2;P51795;V9GYG7 AA743724;ABBA01063298;ABBA01063299;ABBA01063300;ABBA01063301;ABBA01063302;ABBA01063303;ABBA01063304;ABBA01063305;ABBA01063306;ABBA01063307;ABBA01063308;ABBA01063309;ABBA01063310;ABBA01063311;ABBA01063312;ABBA01063313;ABBA01063314;ABBA01063315;ABBA01063316;ABBA01063317;ABBA01063318;ABBA01063319;AC231645;AC236430;AF222686;AK021494;AK025562;AK056560;AK092049;AK290940;AK308089;AMYH02039355;AMYH02039356;AMYH02039357;AMYH02039358;BC051691;BC130429;BC130431;BF513571;BK000969;BX950885;CH471180;DA652242;DA737534;FO393402;NG_007159;NM_000084;NM_001127898;NM_001127899;NM_001272102;NM_001282163;X81836;X91906 AAI30430;AAI30432;ADR83400;BAF83629;BAG51748;BAG52474;CAA57430;CAA63000;DAA01544;EAW89929;NP_000075;NP_001121370;NP_001121371;NP_001259031;NP_001269092;P51795 Hs.166486;Hs.745501 1648491;1648828;1781138;1849406;2112520;2112524;2113220;2130799;2167138;2170940 A007D27;A007H45;DXS7647;DXS8222;DXS9838;DXS9840;DXS9882;STS-X81836;WI-21198;stdJ519N18SP6 CLC5;CLCK2;DENTS;NPHL1;NPHL2;XLRH;XRN;clC-5;hCIC-K2;hClC-K2 H(+)/Cl(-) exchange transporter 5;OTTHUMP00000023279;OTTHUMP00000023280;OTTHUMP00000023281;OTTHUMP00000023282;chloride channel 5;chloride channel protein 5;chloride transporter ClC-5;nephrolithiasis 1 (X-linked);voltage-gated chloride ion channel CLCN5 APPROVED protein-coding ENSG00000171365 HGNC:2023 02053 300008;300009;300554;308990;310468 REVIEWED 1606817 CLCF1 cardiotrophin-like cytokine factor 1 This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] 11 11 11 q13.3 64464792 64474817 - 67131635 67141648 - 67364168 67374177 - 6480464;6907045;7240710;8554872;8699517 10448081;10500198;10966616;11285233;11294841;12477932;12639901;14632778;15272019;15489334;16341674;16782820;17436251;18728012;21097510;21370513 23529 Q9UBD9 ABBA01024038;ABBA01024039;AF172854;AF176911;AF176912;AK298052;AMYH02024994;AP003419;AY049779;BC012939;BC066229;BC066230;BC066231;BM846622;CH471076;DC393345;GM662943;NG_013377;NM_001166212;NM_013246 AAD54284;AAF00991;AAF00992;AAH12939;AAH66229;AAH66230;AAH66231;AAL15436;ABM82451;ABM85641;BAG60346;CAV33841;EAW74601;EAW74602;NP_001159684;NP_037378;Q9UBD9 Hs.502977 1795568;2135540 CLC_34;RH68115 BSF-3;BSF3;CISS2;CLC;NNT-1;NNT1;NR6 B-cell stimulating factor 3;B-cell stimulatory factor 3;B-cell-stimulating factor 3;CRLF1 associated cytokine-like factor 1;OTTHUMP00000236394;OTTHUMP00000236395;neurotrophin-1/B-cell stimulating factor-3;novel neurotrophin-1 APPROVED protein-coding ENSG00000175505 HGNC:17412 09643 607672;610313 REVIEWED 68651 CLCNKA chloride channel, voltage-sensitive Ka This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36 14828391 14840450 + 16348486 16360548 + 16021991 16034050 + 1300296;1300378;1580863;6480464;7240710;8554872;8699517 15044642;9916798 11734858;12477932;15489334;16849430;17081983;17510212;17562318;17652939;18094726;18648499;19913121;20628086;20805576;21248228;23850580;24863058;8041726;8125298;8544406;8812470;9046241 1187 P51800 ABBA01004686;ABBA01004687;AI821546;AK225550;AK290814;AK293476;AK293586;AK298285;AL355994;AMYH02000377;BC035373;BC048282;BC053869;CH471167;NG_009359;NM_001042704;NM_001257139;NM_004070;U93878;XM_006710071;XM_006710072;Z30643 AAB65148;AAH48282;AAH53869;BAF83503;BAG56967;BAG60545;BAH11540;CAA83120;EAW51763;NP_001036169;NP_001244068;NP_004061;P51800;XP_006710134;XP_006710135 Hs.591533 1698900;2106997 CLCNKA_7767;RH103019 CLCK1;ClC-K1;MGC61490;hClC-Ka OTTHUMP00000011118;OTTHUMP00000011119;chloride channel Ka;chloride channel protein ClC-Ka;chloride channel, kidney, A APPROVED protein-coding ENSG00000186510 HGNC:2026 03608 602024;613090 REVIEWED 6481149 CLDN10-AS1 CLDN10 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 96131698 96186164 - 95479444 95533910 - 8554872 100874194 ABBA01027187;ABBA01027188;AL139376;AL357061;AL627382;AMYH02028522;BC024972;HG505825;NR_046533 Hs.569229 RP11-694F24.2 APPROVED ncrna ENSG00000223392 HGNC:39907 PREDICTED 5485766 CLCP2 Charcot-Leyden crystal protein pseudogene 2 13 13 13 q34 95744693 95745299 + 115072065 115072671 + 114306590 114307196 + 19497882 100128145 ABBA01006264;AL160396;AMYH02028757;BK006815;NG_011415;NG_029528 1782876 SHGC-153561 KIAA1802;LGALS10P1 pseudo HGNC:42536 INFERRED 731480 CLCN7 chloride channel, voltage-sensitive 7 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] 16 16 16 p13 1707535 1737366 - 1494934 1525085 - 1444933 1475084 - 1600865;737783;704404;1580863;6480464;7240710;8554872;8699517 11207362;11846422 10084593;11157797;11741829;12082624;12477932;12522560;12929941;14564431;14584882;14702039;15111300;15489334;15692563;16234969;16344560;16368748;16525474;17081983;17164308;17897319;18449189;18755304;19070589;19288050;19371798;19453261;19507210;19543743;19904698;19946888;19953639;20301306;20424301;20499337;20830208;21139048;21527911;21890473;21947783;21963094;23953223;24103576;8543009;8573024;8617505;9565675 1186 H0Y2M6;H3BNG8;I3L470;P51798 AA741117;ABBA01030306;AE006467;AF224741;AI684019;AJ001910;AK056551;AK096963;AK122944;AK128285;AK130196;AK291404;AK292136;AK304796;AK315978;AL031600;AL031705;AMYH02031230;AMYH02031231;AMYH02031232;BC004946;BC006158;BC012737;BC015235;BC109196;CH471112;DB061109;NG_007567;NM_001114331;NM_001287;U88844;Z67743 AAB48530;AAF34711;AAH04946;AAH06158;AAH12737;AAI09197;AAK61282;ABM87432;ABW03889;BAF84093;BAF84825;BAG51745;BAG53401;BAG53810;BAG54655;BAG65546;BAH14349;CAA05083;CAA91556;EAW85653;EAW85654;EAW85655;NP_001107803;NP_001278;P51798 Hs.459649 1340944;1342026;1698850;2134982;2146001;2146003;7183776 A005U10;D1S2792;D1S486;RH102989;RH12098;RH77853 CLC-7;CLC7;FLJ26686;FLJ39644;FLJ46423;OPTA2;OPTB4;PPP1R63 H(+)/Cl(-) exchange transporter 7;OTTHUMP00000041762;chloride channel 7;chloride channel 7 alpha subunit;chloride channel protein 7;protein phosphatase 1, regulatory subunit 63 APPROVED protein-coding ENSG00000103249 HGNC:2025 04103 166600;602727;611490 REVIEWED 1314174 CLDN12 claudin 12 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in the inner ear and bladder epithelium, and it is over-expressed in colorectal carcinomas. This protein and claudin 2 are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, Sep 2011] 7 7 7 q21 84736780 84749336 + 90032648 90045268 + 90403334 90415954 + 1580863;6480464 10690502;11076863;11230166;11247307;11283726;11585919;11912246;12067061;12231346;12475568;12477932;12690205;12853948;14698084;15068973;15489334;15489336;16169070;16344560;16381901;17047970;17567994;18036336;18287530;19322201;19706201;19924644;21139048;21906983;21963094;21988832;23898208 9069 A8MX62;B2R687;C9J4P0;C9J841;P56749 ABBA01045838;AC006153;AJ250713;AK312480;AL136770;AMYH02016244;AX405974;BC036754;BC068532;CH236949;CH471091;CR533470;DA121583;DA230901;DA330572;DB062973;DB224591;NM_001185072;NM_001185073;NM_012129 AAH36754;AAH68532;AAP22363;BAG35384;CAB60617;CAB66704;CAD35081;CAG38501;CAL37593;EAL24163;EAW76876;EAW76877;NP_001172001;NP_001172002;NP_036261;P56749 Hs.731917 1799148;1799402;1799592;1801938;1802306;1811156;1812386;1833202;1834634;1835368;1836478;1837706;1838366;1840726;1843978;1845156;1845500;2071758;2071760;2071762;2071764;2071766;2071768;2071770;2071772;2071774;2071776;2071778;2071780;2071782;2071784;2071786;2071788;2071790;2071792;2071794;2071796;2071798;2071800;2071802;2071804;2071806;2071808;2071810;2071812;2071814;2071816;2071818;2071820;2071822;2071824;2071826;2071828;2071830;2071832;2071834;2071836;2071838;2071840;2071842;2071844;2071846;2071848;2071850;2071852;2071854;2071856;2071858;2071860;2071862;2071864;2071866;2071868;2071870;2071872;2071874;2071876;2071878;2071880;2071882;2071884;2071886;2071888;2071890;2071892;2135568;2144595;2194254;2194256;2194258;2194260;2194262;2194264;2194266;2194268;2194270;2194272;2194274 ECD00420;ECD00552;ECD00648;ECD01850;ECD02037;ECD06576;ECD07200;ECD17743;ECD18465;ECD18839;ECD19402;ECD20021;ECD20357;ECD21554;ECD23201;ECD23795;ECD23968;REN107072;REN107073;REN107074;REN107075;REN107076;REN107077;REN107078;REN107079;REN107080;REN107081;REN107082;REN107083;REN107084;REN107085;REN107086;REN107087;REN107088;REN107089;REN107090;REN107091;REN107092;REN107093;REN107094;REN107095;REN107096;REN107097;REN107098;REN107099;REN107100;REN107101;REN107102;REN107103;REN107104;REN107105;REN107106;REN107107;REN107108;REN107109;REN107110;REN107111;REN107112;REN107113;REN107114;REN107115;REN107116;REN107117;REN107118;REN107119;REN107120;REN107121;REN107122;REN107123;REN107124;REN107125;REN107126;REN107127;REN107128;REN107129;REN107130;REN107131;REN107132;REN107133;REN107134;REN107135;REN107136;REN107137;REN107138;REN107139;RH47948;RH65832;stSG614593;stSG614595;stSG614596;stSG614597;stSG614598;stSG614599;stSG614600;stSG614601;stSG614602;stSG614603;stSG614604 OTTHUMP00000024518;OTTHUMP00000067944;OTTHUMP00000067945;OTTHUMP00000082755;OTTHUMP00000196958;OTTHUMP00000196959;OTTHUMP00000212898;claudin-12 APPROVED protein-coding ENSG00000157224 HGNC:2034 13064 611232 REVIEWED 1343629 CLDN11CL claudin 11 C-terminal like 404198 HGNC:29648 732844 CLDN11 claudin 11 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010] 3 3 3 q26.2-q26.3 168535836 168551662 + 170136653 170152479 + 170418865 170434691 + 1580863;6480464;6907045 10582615;10612400;10690502;10700007;10797530;11247307;11283726;11309411;11591653;12231346;12475568;12477932;12730962;15489334;16344560;18036336;18412169;19241088;19622796;19706201;19956721;20546350;20850723;21468549;21743467;22736761;22951003;23706332;23919729;8661061;8797478 5010 B4DFI2;O75508 ABBA01058678;ABBA01058679;AC008041;AF085871;AJ245901;AJ245902;AK294087;AK312923;AMYH02008122;BC013577;BT019402;BT019403;CH471052;DA258090;DC328248;NM_001185056;NM_005602 AAH13577;AAV38209;AAV38210;ABM81906;ABM85079;BAG35768;BAG57428;CAB55487;EAW78505;EAW78506;EAW78508;EAW78509;NP_001171985;NP_005593;O75508 Hs.31595 1675792;1856043 RH93414;SHGC-77525 OSP;OTM OTTHUMP00000213590;claudin-11;oligodendrocyte transmembrane protein;oligodendrocyte-specific protein APPROVED protein-coding HGNC:8514 03207 601326 REVIEWED 1319353 CLDN14 claudin 14 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010] 21 21 21 q22.3 23031290 23147246 - 37832919 37948867 - 36460621 36576569 - 1600866;1600867;1580863;6480464;6907045;7240710;8699517;8554872 17383680 10690502;10830953;11163249;11247307;11283726;12231346;12475568;12477932;12791041;12975309;15489334;15769849;15880785;16780588;18036336;19254696;19561606;19706201;20301607;20379614;20494980;20811388;22246673;23166209;23235333;23322640;23590985;23991001;24249740;24325792;7644498 23562 O95500 ABBA01057397;ABBA01057398;ABBA01057399;ABBA01057400;AF314090;AI655909;AJ132445;AJ566765;AJ566766;AMYH02037783;AMYH02037784;AP000695;AP000696;AP001726;AY355348;AY355349;AY358533;BC012126;CH471079;NG_011777;NM_001146077;NM_001146078;NM_001146079;NM_012130;NM_144492 AAG60052;AAH12126;AAQ88897;AAR05858;AAR05859;ABM83144;ABM83172;ABM86340;BAA95509;CAA10669;CAD97762;CAD97763;EAX09740;NP_001139549;NP_001139550;NP_001139551;NP_036262;NP_652763;O95500 Hs.660278;Hs.741857 1655803;1664668;1708558;1715441;1731389;1774659;1777396;2117333;2181133 AFM205WB4;D21S1222;G34613;G34616;RH120859;SHGC-51934;SHGC-51960;SHGC-85062;SHGC-9548 DFNB29 OTTHUMP00000109045;OTTHUMP00000109046;OTTHUMP00000109047;OTTHUMP00000109048;OTTHUMP00000109049;claudin-14 APPROVED protein-coding ENSG00000159261 HGNC:2035 05727 605608;614035 REVIEWED 1316669 CLDN17 claudin 17 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and is clustered with CLDN8 on chromosome 21q22.11. [provided by RefSeq, Jun 2010] 21 21 21 q22.11 16721375 16722105 - 31538241 31538971 - 30165923 30166653 - 1580863;6480464;6907045 10690502;10830953;11247307;11283726;12067061;12231346;12475568;12477932;12736707;12975309;15489334;16780588;18036336;19706201;20339536;22889411;24325792 26285 P56750 ABBA01057268;AJ250712;AMYH02037700;AP000884;AP001707;AY358094;BC101503;BC101505;CH471079;NM_012131 AAI01504;AAI01506;AAQ88461;BAA95566;CAB60616;EAX09904;NP_036263;P56750 Hs.258589 1795570;5493501 CLDN17_1504;UniSTS:486937 MGC126552;MGC126554 OTTHUMP00000101916;claudin-17;human CLDN17 gene for claudin-17 APPROVED protein-coding HGNC:2038 10833 REVIEWED 68626 CLDN1 claudin 1 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008] 3 3 3 q28-q29 188453968 188470713 - 190023490 190040235 - 190305701 190322446 - 634856;1580863;6480464;6907045;7240710;8699517;8554872 9892664 10562289;10601346;10690502;10828592;11071387;11247307;11283726;11382769;11689568;11889141;11939410;12021270;12067061;12164927;12231346;12475568;12477932;12736707;12909588;12975309;14515355;15070779;15260435;15489334;15521008;15547692;15743508;15820559;15965503;16169070;16232121;16253248;16344560;16697675;17047970;17091452;17283368;17325668;17359339;17418912;17440968;17585317;17611630;17644758;17784784;17941058;17970035;18036336;18095941;18204077;18211898;18227718;18234789;18337570;18480547;18538010;18550469;18711353;18756604;18802961;18817843;18949385;19052094;19073886;19077439;19184060;19297469;19414319;19540561;19578981;19661441;19674288;19706201;19706291;19739116;19776133;19881542;19897486;19903817;19924644;19962368;20379614;20478039;20490282;20546350;20685314;20871038;20937153;21107309;21233676;21356207;21428935;21480761;21489616;21493012;21536752;21551950;21620107;21624620;21720707;21757541;21873169;21909685;21988832;21997594;22030598;22531683;22588068;22641667;22671588;22719836;22776839;22889411;22897233;22941059;23136956;23137868;23160379;23422483;23426649;23449973;23498955;23523916;23588589;23721519;23775920;23792687;23813140;23844228;23898096;23900598;24074594;24112161;24141423;24265314;24294371;24304426;24305709;24321518;24479816;24529330;24576965;24899196;9647647;9931503 9076 A5JSJ9;O95832 AA484795;ABBA01058328;AC009520;AF086514;AF101051;AF114837;AF115546;AF134160;AF260403;AF260406;AK296934;AK312866;AMYH02008406;AY358652;BC012471;CH471052;CR457138;DA907275;EF564137;NG_021418;NM_021101 AAD16433;AAD22962;AAF61393;AAH12471;AAK20945;AAP97236;AAQ89015;ABM82383;ABM87822;ABQ42705;BAG35718;BAG59485;CAG33419;EAW78107;EAW78108;NP_066924;O95832 Hs.439060 1340874;1667306;1711948;1795572;2147318;2168093;2168095;7186530 A001W08;CLDN1_530;D3S1601;G19705;G30141;G49585;WI-19957 CLD1;SEMP1 ILVASC;OTTHUMP00000209498;claudin-1;senescence-associated epithelial membrane protein 1 APPROVED protein-coding ENSG00000163347 HGNC:2032 04760 603718;607626 REVIEWED 1343820 CLDN20 claudin 20 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq, Jun 2010] 6 6 6 q25 156319443 156331976 + 155585147 155597682 + 155264013 155276548 + 1580863;6480464;6907045;8554872 10690502;11247307;1124737;11283726;12231346;12475568;12477932;14574404;15489334;16836752;17207965;17679949;18036336;18480174;19706201;21832049 49861 P56880 ABBA01025583;ABBA01025584;AL139101;AMYH02014790;BC020838;CH471051;NG_027528;NM_001001346 AAH20838;ADQ32197;EAW47691;NP_001001346;P56880 Hs.567491 1769574 RH65775 OTTHUMP00000017474;claudin-20 APPROVED protein-coding ENSG00000171217 HGNC:2042 13067 REVIEWED 1317558 CLDN10 claudin 10 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The expression level of this gene is associated with recurrence of primary hepatocellular carcinoma. Six alternatively spliced transcript variants encoding different isoforms have been reported, but the transcript sequences of some variants are not determined.[provided by RefSeq, Jun 2010] 13 13 13 q31-q34 76933662 77079797 + 96085853 96232010 + 95433599 95579756 + 1580863;6480464;6907045;8554872 10508613;10690502;11247307;11283726;11991713;12067061;12231346;12475568;12477932;14702039;15489334;15701840;16344560;18025272;18036336;19383724;19706201;19924644;20379614;21103663;21370593;21647678;22076167;23284715;23760508;24325792 9071 P78369;Q5W075 ABBA01027186;ABBA01027187;ABBA01027188;ABBA01027189;AF339794;AK055855;AK315737;AL139376;AL357061;AL627382;AMYH02028522;AMYH02028523;BC010920;BG697724;BU930613;CH471085;CR456845;DA133712;DA636757;DB544708;NM_001160100;NM_006984;NM_182848;U89916 AAC79506;AAH10920;ABM83757;ABM87076;BAB71030;BAG38092;CAG33126;EAX08955;NP_001153572;NP_008915;NP_878268;P78369 Hs.534377 1335122;1336033;1340597;1700448;1736342;1772471;1779660;1782846;2150142;2152459;2173208;2217164;5022753;5094322 CLDN10;CLDN10_2929;D13S1156;D13S1278;D13S627;D13S846E;D9S1832;G54710;RH103845;RH13730;RH71267;SHGC-142196;SHGC-153634;SHGC-4019 CPETRL3;OSP-L OSP-like protein;OTTHUMP00000018561;OTTHUMP00000018562;claudin-10 APPROVED protein-coding ENSG00000134873 HGNC:2033 13063 REVIEWED 1351544 CLDN16 claudin 16 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28. [provided by RefSeq, Jun 2010] 3 3 3 q28 188536131 188560428 + 190105661 190129932 + 190387872 190412143 + 1599615;1599616;1580863;6480464;6907045;7240710;8554872;8699517 10390358;16959063 10690502;10878661;11247307;11283726;11518780;12231346;12475568;12477932;12736707;14628289;15489334;16234325;16528408;16924549;17207965;17551748;18003771;18036336;18442037;18816383;19082451;19165416;19695239;19706201;20511716;20664984;21186073;21669885;21717372;21832049;21848011;22422540;24321194;24659781;668721;8889548 10686 A0SDD8;Q9Y5I7 ABBA01058328;AC009520;AF152101;AK314955;AMYH02008407;AMYH02008408;BC069662;BC069682;BC069759;BC069777;BF034334;CB241927;CH471052;DQ305102;NG_008149;NM_006580;XM_006713479 AAD43096;AAH69662;AAH69682;AAH69759;AAH69777;ABC47832;ADQ32906;EAW78106;NP_006571;Q9Y5I7;XP_006713542 Hs.251391 1797406;2117904;5037552 CLDN16_1935;D8S2279;SHGC-33716 HOMG3;PCLN-1;PCLN1 OTTHUMP00000209499;claudin-16;hypomagnesemia 3, with hypercalciuria and nephrocalcinosis;paracellin-1 APPROVED protein-coding ENSG00000113946 HGNC:2037 04906 248250;603959 REVIEWED 1351425 CLDN18 claudin 18 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is upregulated in patients with ulcerative colitis and highly overexpressed in infiltrating ductal adenocarcinomas. PKC/MAPK/AP-1 (protein kinase C/mitogen-activated protein kinase/activator protein-1) dependent pathway regulates the expression of this gene in gastric cells. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2010] 3 3 3 q22.3 136142326 136177157 + 137717658 137752494 + 137998816 138033652 + 1580863;6480464;6907045 10690502;11247307;11283726;11585919;12231346;12475568;12477932;12975309;16341674;17459057;17932229;18032479;18036336;18223320;18580680;18831034;19047087;19706201;20846265;21206985;21381080;21607649;21832145;22076167;23570326;23900716;23905715;24073219;24647998 51208 F8WEY4;P56856 ABBA01059097;AC016252;AF221069;AF349452;AK098474;AK298103;AMYH02007763;AY102073;AY358479;BC063845;BC142708;BC146668;BM785703;CH471052;NM_001002026;NM_016369 AAF26448;AAI42709;AAI46669;AAL15637;AAQ88843;BAG60388;EAW79092;EAW79093;EAW79094;NP_001002026;NP_057453;P56856 Hs.655324 1648449;2107937 CLDN18_8037;RH18207 DKFZp564B2062;SFTA5;SFTPJ OTTHUMP00000216399;OTTHUMP00000216400;claudin-18;surfactant associated 5;surfactant associated protein J;surfactant, pulmonary associated protein J APPROVED protein-coding ENSG00000066405 HGNC:2039 13066 609210 VALIDATED 1352349 CLDN2 claudin 2 This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene.[provided by RefSeq, Jan 2010] X X X q22.3-q23 106614779 106645477 + 106143394 106174091 + 106900164 106930861 + 634856;1580863;6480464;6907045 9892664 10601346;10690502;11247307;11283726;11934881;12231346;12475568;12477932;12700140;12975309;14751232;15070779;15389642;15489334;15498874;15772651;16189514;16303743;16328347;16344560;17103306;17283368;17314274;17418912;17640674;17970035;18036336;18198187;18287530;18366005;18500171;18509255;18538010;18602630;18711353;18942115;19082451;19120888;19214581;20133805;20143085;20204275;20700059;21076473;21383692;21688348;22546605;22731716;22889411;22927233;22946653;23143602;23306855;23717570;23760508;23919729;23946598;24287273;24287398;24294371;24624459;24907662;9647647 9075 P57739 AA973123;ABBA01035833;ABBA01035834;ABBA01035835;ABBA01035836;ABBA01035837;ABBA01035838;AF177340;AF250558;AK075371;AK075405;AK312515;AL158821;AL591849;AMYH02040209;AY358474;BC014424;BC071747;CH471120;CS051165;DA743944;FB746672;NG_016445;NM_001171092;NM_001171095;NM_020384 AAF98151;AAG17984;AAH14424;AAH71747;AAQ88838;ABM83142;ABM86338;BAC11575;BAG35416;BAG52130;CAI72078;CAT04641;EAX02730;EAX02731;EAX02732;NP_001164563;NP_001164566;NP_065117;P57739 Hs.522746 1797408;2172079;5024908 CLDN2;CLDN2_2269;SGC38161 SP82 OTTHUMP00000023793;claudin-2 APPROVED protein-coding ENSG00000165376 HGNC:2041 06471 300520 REVIEWED 1312766 CLDN19 claudin 19 The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010] 1 1 1 p34.2 41480694 41487855 - 43198764 43205925 - 42733093 42740254 - 1580863;6480464;6907045;7240710;8554872;8699517 10690502;11247307;11283726;12231346;12475568;12477932;14702039;15489334;16427635;17033971;18036336;19706201;21030577;22422540;22734304;23301036;23538362;23602568;8889548 149461 Q8N6F1 ABBA01050974;AC098484;AF497644;AK056118;AK096063;AK291197;AK298992;AMYH02000884;BC030524;BM681600;CH471059;CS223385;NG_008993;NM_001123395;NM_001185117;NM_148960 AAH30524;AAQ07256;BAC04691;BAF83886;BAH12918;CAJ46932;EAX07146;EAX07147;NP_001116867;NP_001172046;NP_683763;Q8N6F1 Hs.496270 HOMG5 OTTHUMP00000008733;OTTHUMP00000008734;claudin-19 APPROVED protein-coding ENSG00000164007 HGNC:2040 10834 248190;610036 REVIEWED 1349320 CLDN22 claudin 22 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and overlaps the 3' UTR of the WWC2 gene (GeneID: 80014) on the opposite strand. [provided by RefSeq, Aug 2010] 4 4 4 q35.1 181573166 181575874 - 184239220 184241927 - 183318067 183320774 - 1580863;6480464;6907045 10690502;11247307;11283726;12231346;12475568;12736707;14702039;15815621;18036336;19706201 53842 Q8N7P3 ABBA01070498;AC093844;AK098064;AK303864;AMYH02010636;CH471056;NM_001111319 BAG64803;EAX04693;NP_001104789;Q8N7P3 Hs.333179 2129932;2136327 RH36596;SHGC-59360 CLDN21;FLJ51450 OTTHUMP00000218623;claudin-22 APPROVED protein-coding ENSG00000177300 HGNC:2044 REVIEWED 1321720 CLDN15 claudin 15 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010] 7 7 7 q11.22 95884531 95891259 - 100875373 100882101 - 101232092 101238820 - 1580863;6480464;6907045 10690502;11095601;11247307;11283726;11912246;12055082;12231346;12475568;12477932;13129853;14702039;16344560;16798613;18036336;19420749;19673046;19706201;21988832;23166209 24146 C9J3Z2;C9JHQ4;H7C2D7;P56746 AA514265;ABBA01011340;AC006329;AJ245738;AK056103;AK124705;AMYH02016403;AMYH02016404;BC010160;CH471197;DB158141;DN999248;NM_001185080;NM_014343 AAH10160;ADZ15669;BAG51627;CAB52587;EAW50210;EAW50211;NP_001172009;NP_055158;P56746 Hs.38738 1697442;2124032 RH102222;WI-11506 FLJ42715;MGC19536 OTTHUMP00000197704;OTTHUMP00000197705;OTTHUMP00000211472;OTTHUMP00000211473;claudin-15 APPROVED protein-coding ENSG00000106404 HGNC:2036 13065 615778 REVIEWED 3436494 CLDN25 claudin 25 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq, Jun 2010] 11 11 11 q23.2 110803400 110804089 + 113650518 113651207 + 113779796 113780485 + 6480464 11181995;12736707;18036336;19706201 644672 C9JDP6 ABBA01039782;AMYH02025595;AP003170;CH471065;NM_001101389 C9JDP6;EAW67230;NP_001094859 Hs.705360 OTTHUMP00000238251;claudin-like;hCG1646420;putative claudin-25 APPROVED protein-coding ENSG00000228607 HGNC:37218 PROVISIONAL 1319100 CLDN23 claudin 23 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in germinal center B-cells, placenta and stomach as well as in colon tumor. This gene is down-regulated in intestinal type gastric cancer. [provided by RefSeq, Aug 2010] 8 8 8 p23.1 7687957 7689908 + 8559666 8561617 + 8702156 8704107 + 1580863;6480464;6907045 11181995;12477932;12736707;15489334;16273224;18036336;18154640;19673046;19706201;23251661;24189493;24222123;24483146;8895530 137075 Q6ZW63;Q96B33 ABBA01026917;AC087269;AK123547;AMYH02017397;BC016047;BC125148;BC125149;CH471157;NM_194284;Z36835 AAI25149;AAI25150;BAC85642;EAW65564;NP_919260;Q96B33 Hs.183617 2179202;2180643;5492871 RH12660;RH67977;UniSTS:483094 CLDNL;hCG1646163 2310014B08Rik;OTTHUMP00000224518;claudin-23 APPROVED protein-coding ENSG00000253958 HGNC:17591 13069 609203 REVIEWED 1318427 CLDN8 claudin 8 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein plays important roles in the paracellular cation barrier of the distal renal tubule, and in the paracellular barrier to prevent sodium back-leakage in distal colon. Differential expression of this gene has been observed in colorectal carcinoma and renal cell tumors, and along with claudin-7, is an immunohistochemical marker for the differential diagnosis of chromophobe renal cell carcinoma and renal oncocytoma.[provided by RefSeq, May 2010] 21 21 21 q22.11 16769465 16771610 - 31586324 31588469 - 30214006 30216151 - 634856;1580863;6480464;6907045 9892664 10601346;10690502;10830953;11247307;11283726;12067061;12231346;12475568;12477932;12736707;12975309;14702039;15489334;16344560;16780588;17047970;18036336;18799195;19000657;19302533;19706201;19924644;20339536;23322640;8125298 9073 P56748 ABBA01057268;AJ250711;AK022269;AK223512;AL049977;AMYH02037700;AP000884;AP001707;AW235670;AY358707;BC020866;BC058004;CH471079;CS072416;DA629490;NM_199328 AAH20866;AAH58004;AAQ89070;ABM82928;ABM86118;BAA95567;BAD97232;BAG51070;CAB60615;CAI93554;EAX09901;EAX09902;NP_955360;P56748 Hs.162209 1795582 CLDN8_532 OTTHUMP00000101915;claudin-8 APPROVED protein-coding ENSG00000156284 HGNC:2050 10835 611231 REVIEWED 68644 CLDN5 claudin 5 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2008] 22 22 22 q11.21 3362807 3365120 - 19510547 19515068 - 19523024 19527545 - 1358511;1580863;6480464;6907045 15363474 10601346;10690502;11247307;11283726;11944085;12231346;12403818;12475568;12477932;12734665;12743111;12909588;14515355;14702039;15260435;15461802;15489334;15617864;15820333;16158492;16181776;16344560;16514648;16697675;16959372;17103306;17585317;17761522;17765294;18003888;18036336;18065521;18329007;18513742;18604199;18797402;18817843;18941231;19168871;19194274;19231096;19538285;19706201;19924644;20044634;20452046;20478039;20525806;21168935;21641584;21717370;21772312;21857898;21959309;22002662;22038628;22235125;22333621;22389112;22448134;22559840;22591361;22700861;23000880;23115643;23288152;23465821;23474739;23505411;23554480;24028293;24318462;24478310;24519061;8125298;8889548;9192844;9441748;9892664 7122 D3DX19;O00501 ABBA01005411;AC000082;AF000959;AK092561;AK124019;AK222466;AMYH02038041;BC002404;BC019290;BC032363;BT007254;BU688528;CB993999;CH471176;CR456420;DB023636;NM_001130861;NM_003277;XM_005261272 AAC51364;AAH02404;AAH19290;AAH32363;AAP35918;BAD96186;BAG52573;CAG30306;CAK54412;CAK54711;EAX03034;EAX03035;NP_001124333;NP_003268;O00501;XP_005261329 Hs.505337 1795578;2112504;2132653;2171211 A006E34;CLDN5_64;D22S1668;D22S983E AWAL;BEC1;CPETRL1;TMDVCF;TMVCF OTTHUMP00000197373;OTTHUMP00000197819;androgen withdrawal and apoptosis induced protein RVP1-like;claudin-5;transmembrane protein deleted in VCFS;transmembrane protein deleted in velocardiofacial syndrome APPROVED protein-coding ENSG00000184113 HGNC:2047 03654 602101 REVIEWED 3378218 CLDN24 claudin 24 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is 75% identical to the mouse homolog. This gene is upstream of the CLDN22 gene, which overlaps the WWC2 gene on the opposite strand in the genome.[provided by RefSeq, Aug 2010] 4 4 4 q35.1 181576864 181577526 - 184242917 184243579 - 183321764 183322426 - 6480464 10690502;11247307;11283726;12231346;12475568;12736707;15815621;18036336;19706201 100132463 A6NM45;D6RBY1 ABBA01070498;AC093844;AMYH02010636;NM_001185149 A6NM45;NP_001172078 Hs.727475 CLDN21 OTTHUMP00000218625;claudin 21;claudin-24-like;putative claudin-24 APPROVED protein-coding ENSG00000185758 HGNC:37200 VALIDATED 1317413 CLDN4 claudin 4 The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013] 7 7 7 q11.23 68723847 68725669 + 73245193 73247015 + 73830863 73832693 + 634856;1580863;2317580;2317600;2317583;2317592;2317602;6480464;6907045 15693851;16143882;17375208;19555390;19793693;9892664 10601346;10690502;11247307;11283726;12231346;12475568;12477932;12700140;12736707;12853948;14559813;14702039;15070779;15366421;15489334;15643498;15743508;15862967;16236711;16253248;16287068;16341674;16439986;16714763;16949040;16969486;17326053;17359339;17418912;17459057;17545541;17651017;17678893;17709988;17962811;18036336;18251778;18283635;18313739;18384777;18477216;18538010;18550469;18648369;18752049;18786529;18954444;19035134;19082451;19120888;19142967;19180924;19184060;19231096;19374770;19390931;19447895;19619303;19657234;19661441;19706201;19884339;19903817;19924644;20053926;20070312;20086175;20163034;20175704;20204275;20466674;20478039;20839069;21102412;21206985;21339813;21493012;21508375;21683675;21968969;22128179;22286027;22668877;22883527;22898551;23053666;23095775;23097631;23196794;23503645;23521713;23596113;23668053;23775021;23822740;24073800;24304426;24421209;9087440;9334247;9878248 1364 O14493;Q75L80 AB000712;ABBA01063937;AC093168;AI560666;AK026651;AK124076;AK126315;AK126462;AMYH02016030;BC000671;BM768799;BT006989;CH471200;CQ947190;NG_012868;NM_001305 AAH00671;AAP35635;AAS07556;ACE86446;ACE87122;BAA22984;BAG54000;BAG54307;BAG54330;CAI29152;EAW69639;NP_001296;O14493 Hs.647036;Hs.729359 1725585;1790443;1795576;1854079;5017266;5037552 A007I02;CLDN4_196;D7S3296;D8S2279;G62015;L18506 CPE-R;CPER;CPETR;CPETR1;WBSCR8;hCPE-R CPE-receptor;Clostridium perfringens enterotoxin receptor 1;OTTHUMP00000160507;OTTHUMP00000211778;Williams-Beuren syndrome chromosomal region 8 protein;claudin-4 APPROVED protein-coding ENSG00000189143 HGNC:2046 04218 602909 REVIEWED 1349033 CLDND1 claudin domain containing 1 FOUND IN cell surface; INTERACTS WITH 2-methylcholine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 3 3 3 q12.1 96625975 96633568 - 98219628 98241910 - 98515473 98523066 - 6480464 10022985;11042152;12036590;12477932;12975309;15489334;16303743;17207965;17316888;18187620;19581412;21139048;21890473;21906983 56650 D6R9K1;D6R9S8;D6RA76;D6RAZ7;D6RB31;D6RC11;D6RCE6;D6RCP3;D6RCR8;D6RD48;D6RDI6;D6RDP6;D6RDY1;D6RFX6;D6RHU6;D6RIU2;H0Y8T9;H0YA53;Q9NY35 AA811441;ABBA01026929;AC021660;AF161522;AJ270952;AK075367;AL080097;AMYH02007287;AW449183;AY359121;BC001757;BC013610;BC022551;BC095441;BF967477;BI552824;BU784186;CD520771;CH471052;DB461184;DB465920;EB386420;NM_001040181;NM_001040182;NM_001040183;NM_001040199;NM_001040200;NM_019895 AAF29137;AAH01757;AAH13610;AAH22551;AAH95441;AAQ89479;ADQ31645;BAG52123;CAB45709;CAB89684;EAW79856;EAW79857;EAW79858;EAW79859;EAW79860;NP_001035271;NP_001035272;NP_001035273;NP_001035289;NP_001035290;NP_063948;Q9NY35 Hs.531371;Hs.720106 1671195;1735286;2178458 D3S2932E;D3S3109;STS-AA040168 C3orf4;GENX-3745;MGC111162;MGC3316;MGC9861 OTTHUMP00000217406;OTTHUMP00000217407;OTTHUMP00000217408;OTTHUMP00000217422;OTTHUMP00000217423;OTTHUMP00000217424;OTTHUMP00000217562;OTTHUMP00000217563;OTTHUMP00000217584;OTTHUMP00000217585;OTTHUMP00000217586;OTTHUMP00000217587;OTTHUMP00000217588;OTTHUMP00000217609;OTTHUMP00000217610;OTTHUMP00000217611;OTTHUMP00000217622;OTTHUMP00000217623;OTTHUMP00000217625;OTTHUMP00000217626;OTTHUMP00000217627;OTTHUMP00000217628;OTTHUMP00000217638;chromosome 3 open reading frame 4;claudin domain containing 1 protein;claudin domain-containing protein 1;membrane protein GENX-3745 protein-coding ENSG00000080822 HGNC:1322 12822 VALIDATED 1319096 CLDN9 claudin 9 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein is one of the entry cofactors for hepatitis C virus. Mouse studies revealed that this gene is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Jun 2010] 16 16 16 p13.3 3268017 3270066 + 3062457 3064506 + 3012456 3014505 + 1580863;6480464;6907045 10690502;11095601;11247307;11283726;11912246;12231346;12475568;12477932;12736707;12742348;14698084;14702039;15489334;17804490;18036336;18234789;19696885;19706201;19773279;19960275;20874001;23864633;9441748 9080 O95484;Q6TPI7 ABBA01026725;AC004643;AC108134;AI791760;AJ130941;AK091002;AMYH02031280;AY390431;BC051870;BC065830;CD105948;CH471112;CQ947192;NM_020982 AAH51870;AAH65830;AAQ97597;CAA10254;CAI29153;EAW85433;NP_066192;O95484 Hs.296949 2108729 CLDN9_3192.2 OTTHUMP00000159249;claudin-9 APPROVED protein-coding ENSG00000213937 HGNC:2051 13071 615799 REVIEWED 1318839 CLDN6 claudin 6 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. This gene encodes a component of tight junction strands, which is a member of the claudin family. The protein is an integral membrane protein and is one of the entry cofactors for hepatitis C virus. The gene methylation may be involved in esophageal tumorigenesis. This gene is adjacent to another family member CLDN9 on chromosome 16.[provided by RefSeq, Aug 2010] 16 16 16 p13.3 3270273 3273747 - 3064713 3068188 - 3014712 3018187 - 634856;1580863;6480464;6907045 9892664 10508865;10601346;10690502;11247307;11283726;11668606;11912246;11923212;12060405;12110008;12231346;12475568;12477932;12736707;12749857;12896909;12975309;15146197;15366020;15454572;15489334;15541721;16303743;17804490;18036336;18234789;18976975;19220299;19288010;19706201;19773279;19960275;20118769;20215972;20367941;20388399;20874001;21989342;22455563;22925655;23775920;23778593;23864633;23919729 9074 I3L1E7;P56747 ABBA01026725;AC108134;AF125306;AJ249735;AK075329;AMYH02031280;AY358480;BC008934;BT007399;BX444798;CH471112;CN420342;CS051119;NM_021195 AAH08934;AAK02013;AAP36063;AAQ88844;BAG52111;CAB56533;CAI72055;EAW85431;EAW85432;NP_067018;P56747 Hs.533779 1795580 CLDN6_1604 OTTHUMP00000159248;claudin-6;skullin APPROVED protein-coding ENSG00000184697 HGNC:2048 13070 615798 REVIEWED 68646 CLDN7 claudin 7 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Differential expression of this gene has been observed in different types of malignancies, including breast cancer, ovarian cancer, hepatocellular carcinomas, urinary tumors, prostate cancer, lung cancer, head and neck cancers, thyroid carcinomas, etc.. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010] 17 17 17 p13.1 7187867 7191157 - 7163222 7166863 - 7259903 7263193 - 634856;1580863;6480464;6907045 9892664 10601346;10690502;11247307;11283726;12231346;12475568;12477932;12673207;12742348;14502431;15475928;15489334;15790437;16049341;16054130;16189514;16341674;16368003;17060315;17103306;17418912;17579117;17611659;17922590;17962811;18036336;18298564;18349130;18357381;18439941;18519685;18550469;18560860;18667601;18799195;18802961;18981000;19120888;19194274;19231096;19661441;19706201;19924644;19960275;20204275;20478039;20874001;20926780;21083599;21184237;21193919;21310043;21480761;21641901;21645451;21789222;21906983;21956537;21988832;22087225;22941467;23146509;23433123;23953778;24358122;24479816;8125298;9441748 1366 F5H496;I3L3L6;I3L3X1;K7EL87;K7EP40;O95471 ABBA01054856;AC003688;AF093823;AJ011497;AK225418;AK313958;AMYH02032896;BC001055;BC071844;BM818537;BT006829;CH471108;CV575841;NM_001185022;NM_001185023;NM_001307 AAH01055;AAH71844;AAP35475;AAP97219;BAG36674;CAA09626;EAW90228;EAW90229;NP_001171951;NP_001171952;NP_001298;O95471 Hs.513915 1649617;1712296;1768073;1768075;2165439 D17S2159;G54057;RH12882;RH47392;WIAF-2127 CEPTRL2;CLDN-7;CPETRL2;Hs.84359;claudin-1 OTTHUMP00000128374;claudin-7;clostridium perfringens enterotoxin receptor-like 2 APPROVED protein-coding ENSG00000181885 HGNC:2049 07633 609131 REVIEWED 68632 CLDN3 claudin 3 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68661514 68662787 - 73183327 73184600 - 73768997 73770270 - 634856;1580863;6480464;6907045 9892664 10562289;10601346;10690502;11247307;11283726;11382769;11691807;12231346;12475568;12477932;12736707;12853948;12909588;15070779;15174142;15240533;15489334;15743508;15905176;16169070;16253248;16287068;16341674;16627685;17103306;17326053;17418912;17459057;17545541;17647191;17986852;18036336;18251778;18313739;18329007;18384777;18439941;18477216;18538010;18550469;18774778;18817843;19082451;19137073;19184060;19208807;19231096;19429681;19460752;19525861;19706201;19924644;20053926;20143085;20204275;20466674;20478039;20655293;21139048;21184237;21519794;21832049;22087225;22128179;22290341;23053666;23075682;23097631;23529315;23909989;24069372;24073800;24290871;24478310;9334247;9441748 1365 O15551;Q75L79 AB000714;ABBA01063939;AC093168;AF007189;AK313276;AMYH02016030;BC009083;BC016056;BM764277;CH471200;CQ947188;NG_012023;NM_001306 AAC78277;AAH16056;AAS07555;ABM83137;ABW03471;BAA22986;BAG36084;CAI29151;EAW69641;NP_001297;O15551 Hs.647023 1676460;1790445;1795574;5492066 CLDN3_194;Cldn3;D7S3297;RH93920 C7orf1;CPE-R2;CPETR2;HRVP1;RVP1 CPE-R 2;CPE-receptor 2;Clostridium perfringens enterotoxin receptor 2;OTTHUMP00000160506;claudin-3;ventral prostate.1 protein homolog;ventral prostate.1-like protein APPROVED protein-coding ENSG00000165215 HGNC:2045 04219 602910 REVIEWED 1604242 CLDND2 claudin domain containing 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; kojic acid; valproic acid 19 19 19 q13.41 48921434 48923339 - 51870352 51872498 - 51367098 51369003 - 6480464;8554872 12477932;15489334 125875 M0R1J6;Q8NHS1 ABBA01068274;AC008750;AMYH02036379;BC029518;CH471135;NG_007115;NM_152353;XM_006723005 AAH29518;ABM81894;ABM85068;EAW72005;NP_689566;Q8NHS1;XP_006723068 Hs.720536 MGC33839 claudin domain-containing protein 2 protein-coding ENSG00000160318 HGNC:28511 14574 VALIDATED 1604062 CLEC11A C-type lectin domain family 11, member A This gene encodes a member of the C-type lectin superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 48277720 48280096 + 51226588 51228981 + 50723348 50725724 + 6480464 10198175;10807776;11803813;11920266;12477932;12900775;14746805;15234225;15489334;16502470;17207965;18029348;19416273;19528216;19884328;21890473;21943129;23357302;24250222;3304620;9207134;9442024;9705843 6320 M0R081;Q9Y240;V9H0X6 AB009244;ABBA01068304;AC010325;AF020044;AF087658;AK314141;AMYH02036362;AY870345;BC005810;BQ014793;BT019673;BU615665;CH471135;D86586;FB659836;NM_002975 AAC39569;AAD26533;AAH05810;AAV38479;AAX62798;ADQ32647;BAA21499;BAA32404;BAG36831;CAS01773;EAW71895;EAW71896;EAW71897;NP_002966;Q9Y240 Hs.512680 1687582 RH79959 CLECSF3;LSLCL;P47;SCGF C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 3;C-type lectin domain family 11 member A;C-type lectin superfamily member 3;lymphocyte secreted C-type lectin;lymphocyte secreted long form of C-type lectin;stem cell growth factor APPROVED protein-coding ENSG00000105472 HGNC:10576 05277 604713 REVIEWED 1603556 CLEC14A C-type lectin domain family 14, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012] 14 14 14 q21.1 18587840 18590095 - 38723205 38725575 - 38254000 38256370 - 6480464;8554872 12477932;12508121;12975309;15340161;15489334;21095181;21706054;22103489;23319000;23644659;23979707 161198 Q86T13 ABBA01061539;AF161403;AL161751;AMYH02029042;AY358395;AY573061;AY606132;BC031567;BX248017;BX423057;CH471078;NM_175060 AAF28963;AAH31567;AAQ88761;AAS77882;AAT92280;CAD62342;EAW65835;NP_778230;Q86T13 Hs.525307 2160778 WI-11132 C14orf27;CEG1;EGFR-5 C-type lectin domain family 14 member A;ClECT and EGF-like domain containing protein;OTTHUMP00000178873;epidermal growth factor receptor 5 APPROVED protein-coding ENSG00000176435 HGNC:19832 10711 REVIEWED 1601795 CLEC17A C-type lectin domain family 17, member A ENCODES a protein that exhibits fucose binding; mannose binding; FOUND IN cell surface 19 19 19 p13.12 14585844 14615105 + 14693896 14721956 + 14583084 14611144 + 12477932;19419970;21822214;23453885;25015289 388512 F8W1T8;Q6ZS10 ABBA01029658;ABBA01029659;ABBA01051072;ABBA01051073;AC010527;AC135052;AC140008;AMYH02035627;AMYH02035628;AMYH02035629;BC140848;BC144664;BC144665;CH471106;NM_001204118;NM_207390;NR_109784;NR_109785 AAI40849;AAI44666;EAW84437;NP_001191047;NP_997273;Q6ZS10 Hs.567933 1339345;1729536 D19S179;D19S385 FLJ45910 OTTHUMP00000240734;OTTHUMP00000240735;OTTHUMP00000240736;OTTHUMP00000240737;prolectin protein-coding ENSG00000187912 HGNC:34520 16993 VALIDATED 1603407 CLEC10A C-type lectin domain family 10, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell surface antigen. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7003370 7009114 - 6977856 6983626 - 7074537 7080307 - 6480464;8554872 12477932;15489334;19776380;19834553;20237496;22531918;23275449;23383108;23744646;23918927;8598452;8889548 10462 I3NI09;J3KR22;Q8IUN9 ABBA01054847;ABBA01054848;AC120057;AK291975;AK292363;AL546075;AMYH02032885;BC027858;BC039011;BI910082;BM974488;BU687211;CH471108;D50532;NG_029878;NM_006344;NM_182906;XM_005256411;XM_005256412 AAH27858;AAH39011;BAA09101;BAF84664;BAF85052;EAW90265;EAW90266;EAW90267;NP_006335;NP_878910;Q8IUN9;XP_005256468;XP_005256469 Hs.54403 1797410 CLECSF14_2594 CD301;CLECSF13;CLECSF14;HML;HML2;MGL C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13 (macrophage-derived);C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived);C-type lectin domain family 10 member A;C-type lectin superfamily member 14;macrophage C-type lectin;macrophage lectin 2 (calcium dependent) APPROVED protein-coding ENSG00000132514 HGNC:16916 12076 605999 REVIEWED 1605796 CLEC12B C-type lectin domain family 12, member B ENCODES a protein that exhibits carbohydrate binding (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); benzo[a]pyrene (ortholog); paracetamol (ortholog) 12 12 12 p13.2 15324608 15332776 + 10163231 10171399 + 10010632 10018844 + 6480464 12477932;12975309;17562706;23834954;24058526 387837 F5H4H7;Q2HXU8 ABBA01067796;AC024224;AI655492;AK128243;AK131027;AMYH02026020;AY358810;BC036036;BC136805;BC136806;CH471094;DQ368812;NM_001129998;NM_205852;XM_006719070;XM_006719071;XM_006719072;XM_006719073;XR_242889 AAI36806;AAI36807;AAQ89170;ABC96323;ADR82900;BAC87350;EAW96135;EAW96136;EAW96137;EAW96138;NP_001123470;NP_995324;Q2HXU8;XP_006719133;XP_006719134;XP_006719135;XP_006719136 Hs.127937 UNQ5782 C-type lectin domain family 12 member B;OTTHUMP00000238692;OTTHUMP00000238693;OTTHUMP00000238701;macrophage antigen h protein-coding ENSG00000256660 HGNC:31966 18266 VALIDATED 1601919 CLEC18A C-type lectin domain family 18, member A This is one of three closely related paralogous genes on chromosome 16 encoding secreted proteins containing C-type lectin domains. These domains bind to carbohydrates in the presence of calcium, and may be involved in cell adhesion, immune response and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012] 16 16 16 q22.1 54500112 54513191 + 69984608 69998250 + 69950705 69964347 + 6480464 12477932;12975309;14702039;16303743;16336259;17207965 348174 A5D8T8;F8W692;H3BNR9 AC026468;AF428259;AF521893;AK074773;AK096051;AK289884;AK298310;AMYH02032292;BC008616;BC078143;BC141808;CQ782710;DC362064;NM_001136214;NM_001271197;NM_182619;XM_005255932;XM_005255933;XM_005255934;XM_005255936 A5D8T8;AAH08616;AAH78143;AAI41809;AAP80866;AAP97299;ACE86613;ACE87294;ADQ31998;BAC11199;BAF82573;BAG60564;CAF85945;NP_001129686;NP_001258126;NP_872425;XP_005255989;XP_005255990;XP_005255991;XP_005255993 Hs.592064 5037552;5112203 D8S2279;RH102328 CLEC18C;FLJ77955;MGC164804;MRCL;MRCL1;MRLP2 C-type lectin domain family 18 member A;C-type lectin domain family 18 member C;OTTHUMP00000174896;mannose receptor-like 1;mannose receptor-like protein 2;mannose receptor-like protein 3;secretory protein LOC348174 APPROVED protein-coding ENSG00000157322 HGNC:30388 17360 REVIEWED 1605475 CLEC18B C-type lectin domain family 18, member B ENCODES a protein that exhibits carbohydrate binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH copper(2+) sulfate; potassium dichromate (ortholog) 16 16 16 q22.3 54500393 54513191 + 74442529 74455368 - 74408631 74421547 - 6480464 12975309;16336259;16344560;8889548 497190 Q6UXF7 ABBA01058098;AC009053;AK293982;AMYH02032378;AY358373;BM695392;DA375446;DC309733;NM_001011880;XM_005255975;XM_005255976 AAQ88739;BAG57351;NP_001011880;Q6UXF7;XP_005256032;XP_005256033 Hs.454670;Hs.556045;Hs.592064 5112203 RH102328 MRCL2 C-type lectin domain family 18 member B;mannose receptor-like 2;mannose receptor-like protein 1;secretory protein LOC497190 protein-coding ENSG00000140839 HGNC:33849 17419 VALIDATED 1605851 CLEC12A C-type lectin domain family 12, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011] 12 12 12 p13.2 15285390 15299566 + 10103915 10147704 + 9951316 9995097 + 6480464;8554872 10508765;12477932;12945048;14739280;15238421;15548716;16239426;16838277;17609428;18350551;19494282;21677141;22341585;24152218 160364 A8MVL9;Q5QGZ9 ABBA01067795;ABBA01067796;AC091814;AF247788;AK314001;AMYH02026019;AMYH02026020;AY426759;AY498550;AY498551;AY498552;AY547296;BC027967;BC063424;BC126289;BC126291;BE242761;BQ017053;CD642076;CH471094;CQ976593;HI565710;NG_029426;NM_001207010;NM_001300730;NM_138337;NM_201623;XM_005253324;XM_006719033;XM_006719034;XM_006719035;XM_006719036;XM_006719037 AAH63424;AAI26290;AAI26292;AAL95693;AAR84594;AAS00605;AAS00606;AAS00607;AAT11783;BAG36713;CAI45358;CBX47387;EAW96132;EAW96133;NP_001193939;NP_001287659;NP_612210;NP_963917;Q5QGZ9;XP_005253381;XP_006719096;XP_006719097;XP_006719098;XP_006719099;XP_006719100 Hs.190519 1710304 SHGC-85259 CLL-1;CLL1;DCAL-2;MGC70602;MICL C-type lectin domain family 12 member A;C-type lectin protein CLL-1;C-type lectin superfamily;C-type lectin-like molecule 1;C-type lectin-like molecule-1;OTTHUMP00000238683;OTTHUMP00000238684;OTTHUMP00000238686;OTTHUMP00000238691;dendritic cell associated lectin 2;dendritic cell-associated lectin 2;myeloid inhibitory C-type lectin-like receptor APPROVED protein-coding ENSG00000172322 HGNC:31713 14719 612088 REVIEWED 5484502 CLEC19A C-type lectin domain family 19, member A ENCODES a protein that exhibits carbohydrate binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene 16 16 16 p12.3 18444978 18463590 + 19297105 19322269 + 19285783 19310947 + 6480464 12477932;12975309;15489334 728276 H3BQW0;H3BQX8;Q6UXS0 ABBA01028256;AC003003;AC130456;AMYH02031641;BC118600;BC119018;BX640722;NM_001256720 NP_001243649;Q6UXS0 Hs.632180 1336583;1712350;1738759;1758859;1766753;2133782;2142242;2157299;2176078 D16S2630;D16S2635;D16S2847;D16S3041;G17927;G54163;SGC34095;SHGC-151087;SHGC-152054 DKFZp686A05212 C-type lectin domain family 19 member A protein-coding HGNC:34522 INFERRED 1604037 CLEC16A C-type lectin domain family 16, member A This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 16 16 16 p13.13 11207780 11445485 + 11038345 11276046 + 10944488 11182189 + 2313978;5491175;5491176;5491177;6480464 18593762;18946483;19221398;21653641 12168954;12477932;14702039;15489334;16344560;17554260;17554300;17632545;17660530;18650830;18940880;18978792;18987646;19073967;19178520;19264985;19305408;19317741;19337309;19375175;19430480;19506219;19525953;19525955;19734133;19834503;19838195;19851296;19865102;19879194;19951419;20036365;20043139;20095854;20190752;20198315;20203524;20220768;20301492;20368992;20372818;20379614;20450971;20694011;20805369;20849399;20962850;21139048;21179112;21399635;21829393;21833088;21890473;21906983;21963094;22036096;22257840;22534877;23000965;23042114;23133532;23151489;23251661;23273568;23817569;24388013;24816145;24949970;9205841 23274 H7BXG1;H7BZI2;H7BZJ9;Q2KHT3 AB002348;ABBA01006805;ABBA01006806;ABBA01006807;AC007014;AC007220;AC133065;AK125825;AK126771;AMYH02031457;AMYH02031458;AMYH02031459;AMYH02031460;AW072095;BC009721;BC112897;BX374760;CH471112;DB062118;DB069341;NG_016757;NM_001243403;NM_015226;XM_005255210;XM_005255211;XM_005255213;XM_005255214;XM_005255215;XM_005255216;XM_006720870 AAI12898;BAA20807;EAW85164;EAW85165;NP_001230332;NP_056041;Q2KHT3;XP_005255267;XP_005255268;XP_005255270;XP_005255271;XP_005255272;XP_005255273;XP_006720933 Hs.35490 1335004;1340826;1342288;1663259;1672920;1672922;1690123;1695790;1767033;1777278;2126889;2139836;2152305;2166994;2175112;2177399;7183412;7183771 D16S3122;D16S3285;D16S3335;D16S414;D16S497;RH47514;RH70169;RH8139;SHGC-152679;SHGC-2756;SHGC-32917;SHGC-60572;SHGC-60718;SHGC-60777;SHGC-61091;SHGC-82550 Gop-1;KIAA0350;MGC111457 OTTHUMP00000202696;OTTHUMP00000202698 APPROVED protein-coding ENSG00000038532 HGNC:29013 17185 611303 REVIEWED 1343742 CLEC1A C-type lectin domain family 1, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 12 12 12 p13.2 15384462 15412281 - 10223012 10251655 - 10070413 10099014 - 6480464;8554872 10508765;10671229;11745369;12477932;12945048;12975309;14702039;15489334;16303743;17046204;22117783 51267 E7ESV9;E9PFB4;F5H038;F8WCT4;Q8NC01 ABBA01067796;AC024224;AF200949;AK075114;AK091989;AK291584;AK300979;AK313589;AMYH02026020;AMYH02026021;AY358587;BC039072;BC067746;BM920364;BQ722745;BX339075;BX380212;CH471094;NM_001297748;NM_001297749;NM_001297750;NM_001297751;NM_016511;XM_005253383 AAF36830;AAH39072;AAH67746;AAQ88950;ABM83366;ABM86577;BAC11410;BAF84273;BAG52458;BAG62601;EAW96140;EAW96141;EAW96142;EAW96143;NP_001284677;NP_001284678;NP_001284679;NP_001284680;NP_057595;Q8NC01;XP_005253440 Hs.29549 1674561;5093670 A009U38;G32855 CLEC-1;CLEC1;MGC34328 C-type lectin domain family 1 member A;C-type lectin-like receptor 1;C-type lectin-like receptor-1;OTTHUMP00000238867;OTTHUMP00000238868;OTTHUMP00000238869 APPROVED protein-coding ENSG00000150048 HGNC:24355 09489 606782 REVIEWED 1346944 CLEC1B C-type lectin domain family 1, member B Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011] 12 12 12 p13.2 15307033 15313278 - 10145660 10153381 - 9990950 10000794 - 6480464;8554872 10671229;11745369;12477932;12975309;15489334;16174766;16189514;16511244;16541075;16940507;17132623;17616532;18215137;18583525;18707544;18955485;19483399;19785988;19824697;20154214;20154219;20237496;20482880;20549515;21714702;22556408;22682130;22736279;22740230;23053573;23264619;23341451 51266 H7BYT7;Q9P126 ABBA01067796;AC091814;AF124841;AMYH02026020;AY358599;BC029554;BX647321;CH471094;NM_001099431;NM_016509;XM_005253382 AAF36777;AAH29554;AAQ88962;ADZ15967;EAW96134;NP_001092901;NP_057593;Q9P126;XP_005253439 Hs.409794 1659690;1729165;1760235;1778410;2136228;5093862 A009Y03;G32968;G63919;RH44593;SHGC-132532;SHGC-34934 1810061I13Rik;CLEC-2;CLEC2;CLEC2B;PRO1384;QDED721 C-type lectin domain family 1 member B;C-type lectin-like receptor 2;C-type lectin-like receptor-2;OTTHUMP00000238865;OTTHUMP00000238866 APPROVED protein-coding ENSG00000165682 HGNC:24356 09490 606783 VALIDATED 1605549 CLEC18C C-type lectin domain family 18, member C ENCODES a protein that exhibits carbohydrate binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH potassium dichromate (ortholog) 16 16 16 q22.1 54500318 54513191 + 70207928 70221050 + 70174025 70187147 + 6480464 12477932;16336259;21988832 283971 F5H550;H3BSF2;H3BUD1;Q8NCF0 ABBA01135730;AC009060;AF448856;AL833339;AMYH02032293;AMYH02032294;BC039068;BC062573;NM_173619;XM_005255906;XM_005255908;XM_006721179 AAH39068;AAP41924;NP_775890;Q8NCF0;XP_005255963;XP_005255965;XP_006721242 Hs.556045 5112203 RH102328 MGC34761;MRCL;MRCL3 C-type lectin domain family 18 member C;mannose receptor-like 3;mannose receptor-like protein 3 protein-coding ENSG00000157335 HGNC:28538 14587 VALIDATED 1351189 CLEC2L C-type lectin domain family 2, member L ENCODES a protein that exhibits carbohydrate binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1 (ortholog); cadmium dichloride (ortholog); ketamine (ortholog) 7 7 7 q34 133946855 133967908 + 139208674 139229731 + 139523928 139544985 + 6480464 11181995;14702039;17353931 154790 H0YB20;P0C7M8 ABBA01001194;AC005531;AK057548;AMYH02016890;CH236950;CH471070;NM_001080511 EAW83922;EAW83923;NP_001073980;P0C7M8 Hs.57806 1777796 RH47579 FLJ32986 C-type lectin domain family 2 member L;OTTHUMP00000227878;OTTHUMP00000227879 protein-coding ENSG00000236279 HGNC:21969 INFERRED 1348681 CLEC2A C-type lectin domain family 2, member A CLEC2A belongs to the CLEC2 family of activation-induced, natural killer gene complex-encoded C-type lectin-like receptors (Spreu et al., 2007 [PubMed 18046548]).[supplied by OMIM, May 2008] 12 12 12 p13.31 15227207 15246360 - 10051272 10084980 - 9898673 9932381 - 6480464;8554872 12975309;18046548;18550855;18976975;19630798;20194751 387836 Q6UVW9 ABBA01067795;AC091814;AMYH02026019;AY359126;CH471094;EF127467;EU095393;EU095394;NM_001130711;NM_207375;XM_005253366 AAQ89483;ABO33172;ABW79912;ABW79913;EAW96129;EAW96130;NP_001124183;NP_997258;Q6UVW9;XP_005253423 Hs.527665 INPE5792;KACL;UNQ5792 C-type lectin domain family 2 member A;OTTHUMP00000179165;OTTHUMP00000238863;PILAR;keratinocyte-associated C-type lectin;proliferation-induced lymphocyte-associated receptor APPROVED protein-coding ENSG00000188393 HGNC:24191 16720 612087 VALIDATED 1604398 CLEC3A C-type lectin domain family 3, member A ENCODES a protein that exhibits carbohydrate binding (inferred); INVOLVED IN skeletal system development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cadmium atom 16 16 16 q23 62354541 62364097 + 78056443 78066003 + 78022546 78032106 + 6480464;8554872 10524194;12477932;12975309;15489334;16344560;19173304;19844255;24376456 10143 H3BTK1;J3KNC9;O75596 AA399390;ABBA01017028;AC079414;AF077345;AI927004;AK313316;AMYH02032434;AY358376;BC104414;BC104415;BQ181694;CH471114;CN480352;DA998903;NM_001244755;NM_005752 AAD12542;AAI04415;AAI04416;AAQ88742;BAG36121;EAW95592;EAW95593;NP_001231684;NP_005743;O75596 Hs.177936 1683711;2217168 CLECSF1_3519;RH91983 CLECSF1;MGC129558;MGC129559 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived);C-type lectin domain family 3 member A;C-type lectin superfamily member 1;C-type lectin, superfamily member 1;OTTHUMP00000174964;cartilage-derived C-type lectin protein-coding ENSG00000166509 HGNC:2052 13072 613588 VALIDATED 1349023 CLEC2D C-type lectin domain family 2, member D This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Oct 2010] 12 12 12 p13 14983729 15013450 + 9822304 9852151 + 9669708 9699555 + 6480464 10541800;12477932;12858173;14753741;14990792;15104121;15123656;16339512;16339513;16344560;17554300;18453569;18465072;18593762;20415786;20843815;21572041;21930700;22664939;23333304 29121 F5H0P0;F5H5U4;F8WF99;H0YGG6;H0YH49;Q9UHP7;W8JXM2 ABBA01067793;AC007068;AC010186;AF133299;AF285087;AF285088;AF285089;AK310150;AK310554;AK313554;AMYH02026017;AY144606;BC019883;BC063128;BC094859;BU929933;CB958277;CH471094;DA814760;DB111977;DB124897;FN813349;FN813350;FN813351;KF958454;KF958455;KF958456;KF958457;KF958458;KF958459;KF971856;KF971857;KF971858;KF971859;NM_001004419;NM_001197317;NM_001197318;NM_001197319;NM_013269;NR_036693 AAF22159;AAG00514;AAG00515;AAG00516;AAH19883;AAH94859;AAN59996;AHK61105;AHK61106;AHK61107;AHK61108;AHM10384;AHM10385;AHM10386;AHM10387;AHM10388;AHM10389;CBL81070;CBL81071;CBL81072;EAW96114;EAW96118;EAW96119;NP_001004419;NP_001184246;NP_001184247;NP_001184248;NP_037401;Q9UHP7 Hs.268326 1644621;1663216;1664873;1698334;1770552;1771295;2161081;2171548;2185692;5019168;5093442;5111923 A006O20;A009O48;G32720;G42957;GDB:314027;RH102708;RH103152;RH66559;RH68046;SHGC-60208;STS-R00578;WI-20643 CLAX;LLT-1;LLT1;OCIL C-type lectin domain family 2 member D;C-type lectin related f;C-type lectin superfamily 2, member D;OTTHUMP00000205778;OTTHUMP00000205781;OTTHUMP00000238802;OTTHUMP00000238803;OTTHUMP00000239055;OTTHUMP00000239056;OTTHUMP00000239057;OTTHUMP00000239058;OTTHUMP00000239091;OTTHUMP00000239092;lectin-like NK cell receptor;lectin-like transcript 1;osteoclast inhibitory lectin APPROVED protein-coding ENSG00000069493 HGNC:14351 16134 605659 REVIEWED 1349387 CLEC4C C-type lectin domain family 4, member C This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 12 12 12 p13.2-p12.3 9460129 9480185 - 7880235 7902069 - 7727639 7749473 - 6480464;8554872 11031109;11086035;11536172;11748283;12386167;12477932;12975309;15489334;17360657;17850179;18022864;18684674;19577819;19829303;20588308;20888334;21436634;21880719;23053572;23100517;24829416 170482 H0YFH6;H0YGB2;Q8WTT0 ABBA01012208;ABBA01012209;AC006517;AF293615;AF325459;AF325460;AK122596;AMYH02025973;AMYH02025974;AY358223;BC074967;BC074968;BC102015;BC102016;BC102017;BC114338;CH471116;NM_130441;NM_203503;XR_242887 AAH74967;AAH74968;AAI02016;AAI02017;AAI02018;AAI14339;AAL37036;AAL37358;AAL37359;AAQ88590;BAG53616;EAW88654;EAW88655;EAW88656;NP_569708;NP_987099;Q8WTT0 Hs.351812 5022578;5022651 D11S2921;D1S1423 BDCA-2;BDCA2;CD303;CLECSF11;CLECSF7;DLEC;HECL;MGC125789;MGC125791;MGC125792;MGC125793;PRO34150 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 11;C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7;C-type lectin domain family 4 member C;C-type lectin domain family 4, member C, isoform 1;C-type lectin superfamily member 7;OTTHUMP00000238795;OTTHUMP00000238796;OTTHUMP00000238797;OTTHUMP00000238799;blood dendritic cell antigen 2 protein;dendritic cell lectin b;dendritic lectin APPROVED protein-coding ENSG00000198178 HGNC:13258 09453 606677 REVIEWED 1604835 CLEC2B C-type lectin domain family 2, member B This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] 12 12 12 p13-p12 15166341 15183831 - 10004968 10022458 - 9852369 9869859 - 6480464;8554872 10072769;10508765;10783260;12477932;12945048;15489334;16712791;18029348;18922855;20237496;20663776;21832049;23929856;8889548;9038101 9976 F5H631;Q92478 AB015628;ABBA01067794;ABBA01067795;AC007068;AC091814;AK307334;AK311232;AK313916;AL550908;AMYH02026019;AY142147;BC005254;BG503026;BG540007;BG779377;BM973072;CA447397;CB160326;CH471094;JA738787;NM_005127;X96719 AAH05254;AAN46677;ABM83435;ABM86649;BAA76495;BAG36638;CAA65480;CCF77046;EAW96127;EAW96128;NP_005118;Q92478 Hs.85201 1710232;1713937;2133480 RH119397;SHGC-84624;WI-14884 AICL;CLECSF2;HP10085;IFNRG1 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced);C-type lectin domain family 2 member B;C-type lectin superfamily member 2;IFN-alpha-2b-inducing-related protein 1;IFN-alpha2b-inducing related protein 1;OTTHUMP00000238852;activation-induced C-type lectin APPROVED protein-coding HGNC:2053 09129 603242 REVIEWED 1344050 CLEC4E C-type lectin domain family 4, member E This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 10221897 10229555 - 8685901 8693558 - 8533305 8540962 - 6480464;6907045 10508765;10528209;12477932;12945048;12975309;15489334;16344560;17207965;18509109;19120481;20237496;20608913;21282371;22479529;22641025;22698596;22932191;24101491;24733387 26253 F5H5X7;F8WFA1;H0YGH9;Q9ULY5 AB024718;ABBA01012242;AC092746;AK312671;AMYH02025990;AY358499;BC000715;CH471116;DA669951;DA678013;NM_014358 AAH00715;AAQ88863;ADQ33211;BAA83755;BAG35553;EAW88617;EAW88618;NP_055173;Q9ULY5 Hs.236516 1795584 CLECSF9_40 CLECSF9 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9;C-type lectin domain family 4 member E;C-type lectin superfamily member 9;MINCLE;OTTHUMP00000239175;OTTHUMP00000239177;macrophage-inducible C-type lectin APPROVED protein-coding ENSG00000166523 HGNC:14555 13075 609962 REVIEWED 1352867 CLEC4A C-type lectin domain family 4, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] 12 12 12 p13 9853291 9868264 + 8276228 8291203 + 8123632 8138607 + 6480464 10438934;10508765;11178971;11994513;12477932;12945048;14550269;15489334;16360206;17665455;18029348;18258799;18480830;18541725;19028959;20530286;21536857;22664939;22829930 50856 H0YGF9;Q9UMR7 AA418441;ABBA01012236;ABBA01012237;AC006511;AC092111;AF067800;AF109146;AF200738;AF328684;AI400631;AJ133532;AMYH02025988;BC074822;BC074874;BC117439;BC117441;CH471116;NM_016184;NM_194447;NM_194448;NM_194450 AAF14348;AAF75560;AAG35593;AAH74822;AAH74874;AAI17440;AAI17442;AAL56016;ADR83505;CAB54001;EAW88632;EAW88633;EAW88634;EAW88635;NP_057268;NP_919429;NP_919430;NP_919432;Q9UMR7 Hs.504657 1850799;2109157 CLECSF6_3585;G41279 CLECSF6;DCIR;DDB27;HDCGC13P;LLIR C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6;C-type lectin DDB27;C-type lectin domain family 4 member A;C-type lectin superfamily member 6;OTTHUMP00000239052;OTTHUMP00000239053;OTTHUMP00000239070;OTTHUMP00000239071;dendritic cell immunoreceptor;lectin-like immunoreceptor APPROVED protein-coding ENSG00000111729 HGNC:13257 05604 605306 REVIEWED 1354383 CLEC4G C-type lectin domain family 4, member G This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the T-cell immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 19 19 19 p13.2 7664968 7668182 - 7793843 7797057 - 7728957 7732171 - 6480464 12477932;12975309;14711836;15489334;17339424;18083206;18624398;18697825;19111020;19632227;20127679;20237496;21257728;22156524;22637699;22711492;22842622 339390 B7ZKQ2;M0R277;Q08G24;Q6UXB4;Q6XYD1 ABBA01010887;AC008763;AMYH02035405;AY203939;AY358431;AY423706;BC039679;BC093691;BC093693;BC143309;CH471139;NG_030321;NM_001244856;NM_198492 AAH93691;AAH93693;AAI43310;AAP34462;AAQ88797;AAR84185;EAW69003;NP_001231785;NP_940894;Q6UXB4 Hs.220649 DTTR431;LP2698;UNQ431 C-type lectin domain family 4 member G;C-type lectin superfamily 4, member G;LSECtin;liver and lymph node sinusoidal endothelial cell C-type lectin APPROVED protein-coding ENSG00000182566 HGNC:24591 16721 REVIEWED 1625847 CLEC4GP1 C-type lectin domain family 4, member G pseudogene 1 19 19 19 p13.2 7723645 7727152 + 7852370 7855898 + 7787484 7791012 + 6480464 12477932;14702039 440508 ABBA01010886;AC008812;AK090689;AK090734;AK123140;AMYH02035406;AMYH02035407;BC047593;NR_002931 Hs.568222 2119226;5020948;5109281 D1S1425;G35510;RH66629 FLJ33370;FLJ33415;FLJ41145;MGC48640 pseudo HGNC:33502 VALIDATED 1354444 CLEC4F C-type lectin domain family 4, member F ENCODES a protein that exhibits carbohydrate binding (inferred); INVOLVED IN endocytosis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH theophylline; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 p13.3 70886456 70898414 - 71035775 71047732 - 70808643 70820600 - 69939;633037;6480464 1846367;8889548 12477932;14702039;16713569 165530 B7Z704;B7ZMM1;Q8N1N0 ABBA01075541;ABBA01075542;AC007395;AK096429;AK301242;AMYH02004043;BC139723;BC144652;BU740367;CD701685;CH471053;NM_001258027;NM_173535;XM_005264172 AAI39724;AAI44653;BAC04786;BAH13440;EAW99794;NP_001244956;NP_775806;Q8N1N0;XP_005264229 Hs.681239 2217166 CLECSF13_3642 CLECSF13;FLJ39110;KCLR C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13;C-type lectin 13;C-type lectin domain family 4 member F;C-type lectin superfamily member 13;OTTHUMP00000160127;OTTHUMP00000203412 protein-coding ENSG00000152672 HGNC:25357 13073 VALIDATED 1602501 CLEC3B C-type lectin domain family 3, member B ENCODES a protein that exhibits calcium ion binding; heparin binding; kringle domain binding; INVOLVED IN bone mineralization; cellular response to organic substance; cellular response to transforming growth factor beta stimulus; ASSOCIATED WITH Osteoarthritis; FOUND IN cytoplasm; extracellular space; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; bisphenol A 3 3 3 p22-p21.3 45005711 45015514 + 45067759 45077563 + 45026267 45036071 + 1625347;6480464 15334463 10614823;10727405;10964919;11962752;12477932;12694198;1354271;14718574;1511740;15489334;15848710;15901484;16453284;17353931;21832049;21900206;2298916;2533389;3009181;3427041;7589422;7798325;8418471;9154122;9256258;9757090;9786936 7123 E9PHK0;P05452 ABBA01024733;AC104165;AK312093;AMYH02006653;BC011024;BI837909;CH471055;CR541981;CR542009;CR749292;NM_003278;X64559;X70910;X70911;X70912;X98121;XM_005265426 AAH11024;BAG35029;CAA45860;CAA50265;CAA66803;CAG46778;CAG46806;CAH18147;EAW64735;EAW64736;NP_003269;P05452;XP_005265483 Hs.476092 2108585;2121211;2146653 RH70861;SHGC-32929;TNA_8680 DKFZp686H17246;TN;TNA OTTHUMP00000164117;plasminogen kringle 4-binding protein;tetranectin;tetranectin (plasminogen binding protein);tetranectin (plasminogen-binding protein) protein-coding ENSG00000163815 HGNC:11891 01759 187520 VALIDATED 1347298 CLEC4D C-type lectin domain family 4, member D This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 10202132 10210958 + 8666136 8674962 + 8513540 8522366 + 6480464;8554872 10508765;12477932;12945048;14971047;15368084;18029348;22689578;24101491 338339 A6NHA5;Q8WXI8 ABBA01012242;AC092746;AF411850;AK314071;AMYH02025990;AY115592;AY297446;AY486482;AY486483;BC032313;BI909298;CH471116;NM_080387 AAH32313;AAL37713;AAM75389;AAQ63173;AAS59161;AAS59162;ABM85355;EAW88619;NP_525126;Q8WXI8 Hs.351811 2189397;2191643 MARC_3557-3558:966881413:1;MARC_4325-4326:991938466:1 CLEC-6;CLEC6;CLECSF8;MCL;MGC40078;MPCL C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8;C-type lectin domain family 4 member D;C-type lectin receptor;C-type lectin superfamily member 8;C-type lectin-like receptor 6;OTTHUMP00000239173;OTTHUMP00000239174;macrophage C-type lectin APPROVED protein-coding ENSG00000166527 HGNC:14554 13074 609964 REVIEWED 1343085 CLEC5A C-type lectin domain family 5, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q33 136348653 136368271 - 141627157 141646783 - 141927357 141946983 - 6480464 10449773;10508765;12477932;12690205;12853948;12945048;15489334;18496526;20057064;20237496;21094529;21566123;22536019;23152543;23568457 23601 A4D1U7;C9JCE4;C9JPR7;F8WCL0;Q14DL9;Q9NY25 ABBA01034113;ABBA01034114;AC073647;AF139768;AI418484;AJ271684;AK292766;AK295200;AK307095;AK313703;AMYH02016927;AMYH02016928;BC093714;BC112099;BC113098;BC113099;BC143392;BQ005467;BQ446122;CH236950;CH471070;NM_001301167;NM_013252;XM_005249965 AAF02491;AAH93714;AAI12100;AAI13099;AAI13100;AAS07444;BAF85455;BAG36449;BAG58199;CAB71334;EAL24012;EAW83991;EAW83992;NP_001288096;NP_037384;Q9NY25;XP_005250022 Hs.446235 2109155 CLECSF5_3562 CLECSF5;MDL-1;MDL1;MGC138304 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5;C-type lectin domain family 5 member A;C-type lectin superfamily member 5;OTTHUMP00000211626;OTTHUMP00000211628;OTTHUMP00000211630;myeloid DAP12-associating lectin 1;myeloid DAP12-associating lectin-1 APPROVED protein-coding ENSG00000258227 HGNC:2054 09229 604987 REVIEWED 1602831 CLECL1 C-type lectin-like 1 This gene encodes a type II transmembrane, C-type lectin-like protein that is highly expressed on dendritic and B cells. This protein may act as a T-cell costimulatory molecule that enhances interleukin-4 production, and maybe involved in the regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 12 12 12 p13.31 15036506 15047277 - 9868456 9885895 - 9696777 9733299 - 6480464 12421943;12477932;16344560;17554300;19027044;19648166;20237496;21833088 160365 H0YFK3;H0YGV3;Q8IZS7 ABBA01067794;AC007068;AF518873;AMYH02026017;AMYH02026018;AW237307;BC042176;BC093857;BC093859;BX103210;CH471094;DA619574;JA738661;NM_001253750;NM_001267701;NM_172004;XM_006719038 AAH93857;AAH93859;AAN64752;CCF76983;EAW96120;EAW96121;NP_001240679;NP_001254630;NP_742001;Q8IZS7;XP_006719101 Hs.560087;Hs.734740 DCAL-1;DCAL1 C-type lectin-like domain family 1;DC-associated lectin-1;OTTHUMP00000238837;dendritic cell associated lectin 1;dendritic cell-associated lectin 1;dendritic cell-associated lectin-1;type II transmembrane protein DCAL1 APPROVED protein-coding ENSG00000184293 HGNC:24462 16247 607467 REVIEWED 1351045 CLEC6A C-type lectin domain family 6, member A Like dectin-1 (CLEC7A; MIM 606264), CLEC6A, or dectin-2, is a type II membrane receptor with an extracellular C-type lectin-like domain fold. However, unlike dectin-1, dectin-2 lacks an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain (Kanazawa et al., 2004 [PubMed 15175046]).[supplied by OMIM, Nov 2010] 12 12 12 p13 10144899 10166924 + 8608591 8630926 + 8455995 8478330 + 6480464 12477932;15175046;15368084;15810886;21283787 93978 Q6EIG7 ABBA01012242;AC092746;AC092865;AC247052;AK308011;AMYH02025989;AMYH02025990;AY321309;AY365135;BC132933;BC132935;CH471116;NM_001007033 AAI32934;AAI32936;AAQ83725;AAR13071;EAW88620;NP_001007034;Q6EIG7 Hs.591147 CLEC4N;CLECSF10 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10;C-type lectin domain family 6 member A;C-type lectin superfamily member 10;DC-associated C-type lectin 2;DC-associated C-type lectin-2;OTTHUMP00000239172;dectin 2;dectin-2;dendritic cell-associated C-type lectin 2 APPROVED protein-coding ENSG00000205846 HGNC:14556 16722 613579 PROVISIONAL 1343177 CLEC9A C-type lectin domain family 9, member A CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008] 12 12 12 p13.2 15344658 15379948 + 10183276 10218612 + 10030677 10065966 + 6480464 12975309;18408006;18497879;18669894;19219027;20479117;21677141;22234694;22442345;22483800;22483802;24049150 283420 Q6UXN8 ABBA01067796;AC024224;AK307335;AMYH02026020;AY358265;EU339276;NM_207345 AAQ88632;ABZ04557;NP_997228;Q6UXN8 Hs.531189 1339892;1729137;1858153;2118757;2160705;2218858 D12S1674;D12S1823;G63920;RH70065;SGC34321;UNQ9341__5023 DNGR1;UNQ9341 C-type lectin domain family 9 member A;HEEE9341;OTTHUMP00000238703 APPROVED protein-coding ENSG00000197992 HGNC:26705 16723 612252 PROVISIONAL 1343269 CLGN calmegin Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. [provided by RefSeq, Jul 2008] 4 4 4 q28.3-q31.1 138639605 138678818 - 141309607 141348815 - 140388453 140427661 - 1580863;6480464;8554872 10495883;11784061;12477932;14702039;15489334;16264275;17081983;17903293;20379614;21139048;21903422;21988832;22190034;23464991;23798571;24035498;24769397;8126001;9177349;9434179 1047 D6RAZ4;O14967 ABBA01069980;ABBA01069981;AC093671;AK093096;AK290819;AK299243;AK302149;AL045602;AMYH02010210;AMYH02010211;AMYH02010212;BC028357;CH471056;D86322;DC396076;NM_001130675;NM_004362;XM_006714062 AAH28357;ABM83026;ABM86221;BAA22590;BAF83508;BAG52652;BAG61274;BAG63520;EAX05099;EAX05100;EAX05101;NP_001124147;NP_004353;O14967;XP_006714125 Hs.86368 1653676;2109159 CLGN_8249;SHGC-67906 OTTHUMP00000164610 APPROVED protein-coding ENSG00000153132 HGNC:2060 03513 601858 REVIEWED 1350458 CLEC7A C-type lectin domain family 7, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] 12 12 12 p13.2 15430059 15443548 - 10269376 10282868 - 10116777 10130269 - 6480464;6907045;7240710;8554872;8699517 10508765;10779524;11470510;11491532;11544516;11567029;11745369;12423684;12477932;12689921;12945048;12975309;14707091;15130945;15489334;15728245;15816015;15944324;15956283;16341139;16344560;16870151;17182550;17207965;17698636;18549457;19122653;19134118;19223162;19358895;19614557;19633936;19773555;19811837;19864674;19888805;19915667;20158887;20237496;20299682;20360401;20421639;20452827;20577092;20608913;20631729;20700596;20807886;21242599;21283787;21296999;21426724;21515468;21531876;21876553;21881131;21899704;21906983;21985303;21988832;22199280;22267217;22384201;22562430;22674328;22952831;23097038;23239982;23332664;23374272;23475217;23674515;23745599;23787127;24068891;24094722;24721111;24808366;24835401;24864436;7566098 64581 Q68D78;Q9BXN2 AA361063;ABBA01067796;AC024224;AF313468;AF313469;AF400595;AF400596;AF400597;AF400598;AF400599;AF400600;AF400601;AF400602;AJ312372;AJ312373;AK294111;AK295108;AK297028;AK298679;AK298724;AK313247;AMYH02026022;AY009090;AY026769;AY026770;AY026771;AY358685;AY359002;BC013385;BC071746;BC093829;BC093831;CH471094;CQ779237;CQ779239;CR749536;DA193873;NG_016291;NM_022570;NM_197947;NM_197948;NM_197949;NM_197950;NM_197954;NR_125336;XM_005253467;XM_005253468;XM_006719135;XM_006719136 AAG33923;AAH13385;AAH71746;AAH93829;AAH93831;AAK20114;AAK20115;AAK20116;AAK37473;AAK37474;AAL11711;AAL11712;AAL11713;AAL11714;AAL11715;AAL11716;AAL11717;AAL11718;AAQ89048;AAQ89361;ADQ32026;BAG36058;BAH11674;BAH11976;BAH12480;BAH12845;BAH12855;CAC43846;CAC43847;CAF63003;CAF63006;CAH18342;EAW96144;EAW96145;EAW96146;EAW96147;EAW96148;EAW96149;EAW96150;EAW96151;EAW96152;EAW96153;EAW96154;EAW96155;NP_072092;NP_922938;NP_922939;NP_922940;NP_922941;NP_922945;Q9BXN2;XP_005253524;XP_005253525;XP_006719198;XP_006719199 Hs.143929 1341163;5014019;5016478;5022322 D11S2560;D12S1690;D5S2354;GDB:434012 BGR;CANDF4;CLECSF12;DECTIN1 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12;C-type lectin domain family 7 member A;C-type lectin superfamily member 12;DC-associated C-type lectin 1;OTTHUMP00000164964;OTTHUMP00000164965;OTTHUMP00000164966;OTTHUMP00000233744;OTTHUMP00000233745;OTTHUMP00000233746;OTTHUMP00000233748;OTTHUMP00000233749;beta-glucan receptor;dectin-1;dendritic cell-associated C-type lectin 1;dendritic cell-associated C-type lectin-1;lectin-like receptor 1 APPROVED protein-coding ENSG00000172243 HGNC:14558 08396 606264;613108;614079 REVIEWED 1606727 CLHC1 clathrin heavy chain linker domain containing 1 INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 2 2 2 p16.1 55240204 55300225 - 55399683 55459699 - 55172547 55232563 - 6480464 12477932;14702039;16344560;20379614;24322204;8889548 130162 B5MC48;C9J143;D6W5C8;E7EQP3;E7EVC5;H7C1D8;Q8NHS4 ABBA01075262;ABBA01075263;ABBA01075264;AC012358;AC093165;AK056000;AK315683;AMYH02003848;AMYH02003849;BC029502;BC036908;BM046729;BM968338;CH471053;DA249479;DA713663;NG_033063;NM_001135598;NM_152385;XM_005264136;XM_005264137;XM_005264138;XM_005264139;XM_006711937;XM_006711938;XM_006711939;XM_006711940 AAH29502;AAH36908;AAY24030;BAB71069;BAG38048;EAX00111;EAX00112;EAX00113;EAX00114;NP_001129070;NP_689598;Q8NHS4;XP_005264193;XP_005264194;XP_005264195;XP_005264196;XP_006712000;XP_006712001;XP_006712002;XP_006712003 Hs.347014 1643630;1655792;1673963;1703322;2163182 RH16264;RH45629;RH47411;SHGC-34889;SHGC-68562 C2orf63;FLJ31438 OTTHUMP00000200781;OTTHUMP00000200782;OTTHUMP00000200784;OTTHUMP00000201798;OTTHUMP00000201799;clathrin heavy chain linker domain-containing protein 1;hypothetical protein LOC130162;uncharacterized protein C2orf63 APPROVED protein-coding ENSG00000162994 HGNC:26453 08100 VALIDATED 1603701 CLEC4M C-type lectin domain family 4, member M This gene encodes a transmembrane receptor and is often referred to as L-SIGN because of its expression in the endothelial cells of the lymph nodes and liver. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses, with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are common and have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 30835; often referred to as DC-SIGN or CD209). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009] 19 19 19 p13 7699445 7705764 + 7828035 7834491 + 7763133 7769605 + 6480464;6907045;8554872 10072769;10975799;11226297;11257134;11337487;11384997;11739956;12050398;12152166;12223058;12403912;12477932;12502850;12621057;12634366;14702039;15111305;15184372;1518869;15195147;15215692;15371595;15489334;15496474;15509576;15784257;15795245;15812562;16061998;16246332;16344560;16364081;16365436;16369534;16386217;16434485;16453266;16883544;16894195;17006978;17037540;17342744;1736938;17509452;17530994;17632570;17715238;17876530;18083206;18171520;18375037;18458800;18697825;18708672;18775666;18841568;19046307;19141225;19249311;19514109;19617348;19809496;19833723;19835887;20003397;20108443;20152818;20217198;20331378;20799037;21029358;21191006;21277928;21650186;21899704;22090124;22279577;22338216;22842622;22902397;22957026;23292357;23312596;23354840;23460925;23529928;23602836;23788638;23859015;24183720 10332 B4E2Z5;E7ENS9;H7BXE2;H7BXU4;M0QYX2;M0QZ42;Q9H2X3 AA431250;AB015629;ABBA01010887;AC008812;AF209481;AF245219;AF290887;AK023750;AK292278;AK298084;AK304499;AK314704;AMYH02035406;AY042234;AY042235;AY042236;AY042237;AY042238;AY042239;AY042240;AY343913;BC038851;BC110614;BQ008265;BX102225;CH471139;DB030283;DB048428;NG_029190;NM_001144904;NM_001144905;NM_001144906;NM_001144907;NM_001144908;NM_001144909;NM_001144910;NM_001144911;NM_014257;NR_026707;NR_026708;NR_026709;XM_006722611;XM_006722612;XM_006722613;XM_006722614;XM_006722615;XR_430125 AAG13815;AAG13848;AAH38851;AAI10615;AAK20998;AAK91859;AAK91860;AAK91861;AAK91862;AAK91863;AAK91864;AAK91865;AAR04559;ABM84705;BAA76496;BAB14667;BAF84967;BAG60371;BAG65307;EAW68983;EAW68984;EAW68985;EAW68986;EAW68987;EAW68988;EAW68989;EAW68990;NP_001138376;NP_001138377;NP_001138378;NP_001138379;NP_001138380;NP_001138381;NP_001138382;NP_001138383;NP_055072;Q9H2X3;XP_006722674;XP_006722675;XP_006722676;XP_006722677;XP_006722678 Hs.421437 1678307;1792282;1792284;5022578;5022651 D11S2921;D1S1423;PMC140574P1;PMC140574P2;RH65100 CD209L;CD299;DC-SIGN2;DC-SIGNR;DCSIGNR;HP10347;L-SIGN;LSIGN;MGC129964;MGC47866 C-type lectin domain family 4 member M;CD209 antigen-like protein 1;CD299 antigen;DC-SIGN-related protein;dendritic cell-specific ICAM-3-grabbing non-integrin 2;dendritic cell-specific ICAM-3-grabbing nonintegrin 2;liver/lymph node-specific ICAM-3 grabbing non-integrin;liver/lymph node-specific ICAM-3-grabbing non-integrin;mannose binding C-type lectin DC-SIGNR APPROVED protein-coding ENSG00000104938 HGNC:13523 12060 605872 REVIEWED 8548159 CLIC4P2 chloride intracellular channel 4 pseudogene 2 19 19 19 p13.3 6502407 6503742 - 6562565 6563900 - 6562554 6563889 - 100130584 ABBA01051463;AC010503;AMYH02035356;NG_021738 pseudo HGNC:49798 INFERRED 8548156 CLIC4P3 chloride intracellular channel 4 pseudogene 3 X X X p11.4 45077010 45077765 + 40936252 40937007 + 41076999 41077754 + 442447 ABBA01046733;AL391259;AMYH02039200;NG_022657 pseudo HGNC:49799 INFERRED 5508856 CLIC1P1 chloride intracellular channel 1 pseudogene 1 12 12 12 q24.31 120986102 120986821 + 121352207 121352926 + 120914404 120915123 + 390363 ABBA01020142;AC069214;AC078875;AMYH02027385;NG_021736 pseudo HGNC:32691 INFERRED 1353337 CLIC1 chloride intracellular channel 1 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1 is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33296583 33302566 - 31698358 31705095 - 31730581 31737318 - 1580863;6480464 10191309;10384126;10793131;10834939;11195932;11551966;11978800;12163479;12477932;12681486;1345164;14574404;14613939;14656967;14667819;15190104;15326289;15489334;15827065;16009940;16130169;16236267;16289162;16712791;17326840;17347778;17620599;18028448;18710659;18850721;19143814;19143821;19190083;19299076;19659809;19703605;19738201;19845400;19851445;19913121;19946888;20461716;20507120;20587610;20628086;21139048;21319273;21858536;21890473;21906983;21963094;21988832;22082111;22173998;22242893;22268729;22304920;22426742;22505724;22578365;22623428;22791942;22952844;23000965;23166591;23457643;23593969;23792823;23874603;24058583;24089665;24115360;24328417;24338975;24654937;24816145;25027693;7711732;7938007;8125298;9139710;9339381;9841507 1192 O00299;Q53FB0;Q5SRT3 ABBA01038084;AF034607;AF109197;AF129756;AI192421;AJ012008;AK129773;AK223379;AK314014;AL662899;AL670886;AL844216;AMYH02013453;BA000025;BC064527;BC095469;BM562536;BX248244;CB124154;CH471081;CR354443;CR542071;CR759787;CR936239;CX783058;HY057217;NM_001287593;NM_001287594;NM_001288;U93205;X87689 AAC25675;AAD18073;AAD20437;AAD26137;AAH64527;AAH95469;BAB63376;BAD97099;BAG36725;CAA61020;CAB46078;CAG46868;EAX03503;EAX03504;EAX03505;NP_001274522;NP_001274523;NP_001279;O00299 Hs.414565 1686540;1694552;2106203;2106205;2141001;2189743;5117008 9N-1;CLIC1;D6S2782;G43219;N3_2_2;RH65001;STS-W60956 G6;NCC27;hRNCC;p64CLCP OTTHUMP00000029131;OTTHUMP00000029133;OTTHUMP00000029137;OTTHUMP00000174486;RNCC protein;chloride channel ABP;chloride intracellular channel protein 1;nuclear chloride ion channel 27;nuclear chloride ion channel protein;regulatory nuclear chloride ion channel protein APPROVED protein-coding ENSG00000213719 HGNC:2062 04188 602872 REVIEWED 737114 CLIC4 chloride intracellular channel 4 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008] 1 1 1 p36.11 23398865 23495461 + 25071760 25170815 + 24745269 24844324 + 1580863;6480464 10026142;10070163;10191309;10793131;11076863;11230166;11256614;11563969;12163372;12163479;12477932;14569596;14702039;15489334;15489336;16239224;16316993;16344560;16381901;16842122;17200346;17636002;18028448;18029348;19056867;19247789;19639201;19713532;19776349;20374090;20379614;20877624;20881960;21139048;21319273;21890473;21988832;22387366;22505724;22761775;22936677;22939629;23000965;23042605;23380911;23416981;23792823;24250222;24503951;24816145;25015289;25027693;8175911;9139710;9295337;9880541 25932 Q6FIC5;Q9Y696 ABBA01059916;ABBA01059917;ABBA01059918;ABBA01059919;ABBA01059920;ABBA01059921;AF097330;AF109196;AK001624;AK095959;AK301466;AK307142;AK315051;AL080061;AL117424;AL162008;AL445648;AL662924;AMYH02000527;AMYH02000528;AMYH02000529;AMYH02000530;AMYH02000531;AMYH02000532;BC012444;BQ574968;BQ929781;CH471134;CR533501;DA904028;DB091421;NM_013943;Z24740;Z24749 AAD26136;AAD38446;AAH12444;BAA91794;BAG37528;BAG53175;BAG62986;CAB55916;CAG38532;CAL38520;EAW95142;EAW95143;EAW95144;EAW95145;EAW95146;NP_039234;Q9Y696 Hs.440544 1340143;1672275;1689308;1744325;1754657;1755421;1769845;1770093;1791942;2142574;5118095 D1S234;G64279;GDB:451688;PMC133822P1;RH12109;SHGC-133015;SHGC-142298;SHGC-60179;SHGC-74379;SHGC-74412;SHGC-74417 CLIC4L;DKFZp566G223;FLJ38640;H1;MTCLIC;huH1;p64H1 OTTHUMP00000003380;OTTHUMP00000003381;chloride intracellular channel 4 like;chloride intracellular channel protein 4;intracellular chloride ion channel protein p64H1 APPROVED protein-coding ENSG00000169504 HGNC:13518 05943 606536 REVIEWED 1316330 CLIC3 chloride intracellular channel 3 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 110401370 110403334 - 139889060 139892200 - 136994608 136997741 - 1580863;6480464 11563969;12477932;15489334;17027078;17207965;18029348;19056867;20146363;21044950;21832049;22795578;9139710;9880541 9022 O95833;Q5SQ17 ABBA01022734;AF102166;AI741256;AL807752;AMYH02021915;BC007012;BF439361;BM043659;CH471090;CR542066;NM_004669;XM_005266117 AAD16450;AAH07012;ADQ32467;CAG46863;EAW88329;EAW88330;NP_004660;O95833;XP_005266174 Hs.64746 1654876 RH47857 OTTHUMP00000022630;OTTHUMP00000022631;OTTHUMP00000022632;chloride intracellular channel protein 3 APPROVED protein-coding HGNC:2064 05941 606533 REVIEWED 8548278 CLIC4P1 chloride intracellular channel 4 pseudogene 1 9 9 9 p21.3 22686037 22686576 + 22747691 22748230 + 22747692 22748231 + 646609 ABBA01065163;AC017067;AMYH02019298;NG_021641 pseudo HGNC:49797 INFERRED 735803 CLIC6 chloride intracellular channel 6 This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] 21 21 21 q22.12 21241258 21290092 + 36041612 36090525 + 34669313 34718227 + 1580863;6480464;8554872 10830953;12226712;12477932;12747765;14499480;14597386;14702039;15489334;19056867;19834535;8889549 54102 Q96NY7 ABBA01057368;ABBA01057369;AF308293;AF426169;AF448438;AF448439;AK092733;AK289663;AMYH02037757;AP000330;BC040196;CH471079;KF457234;KF511409;NM_053277;XM_006724025 AAH40196;AAL24813;AAN76729;AAN76730;BAC03959;BAF82352;EAX09775;EAX09776;NP_444507;Q96NY7;XP_006724088 Hs.473695 1759883;1790597;2128036;2218384 CLIC6_4585;D21S65;SHGC-170123;STS_CEB234 CLIC1L OTTHUMP00000108627;OTTHUMP00000108628;chloride channel form A;chloride intracellular channel protein 6;parchorin APPROVED protein-coding ENSG00000159212 HGNC:2065 615321 REVIEWED 1351761 CLIC5 chloride intracellular channel 5 This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 6 6 6 p12.3 47419073 47600603 - 45866188 46048085 - 45898451 46080348 - 1580863;6480464;8554872 10793131;12163479;12200217;12477932;14574404;14702039;15184393;15342556;15489334;16303743;16344560;17021174;17492382;18028448;18676988;19056867;19738201;20055760;20335315;20379614;20946665;22699663;23326517;23602568;8125298;8889548 53405 Q49AE1;Q53G01;Q9NZA1 ABBA01050622;ABBA01050623;ABBA01050624;ABBA01050625;ABBA01050626;AF086005;AF176920;AF216941;AJ420547;AK025350;AK075144;AK075163;AK097048;AK222544;AK223130;AK314416;AL049313;AL050336;AL357057;AL591211;AMYH02013679;AMYH02013680;AY032602;BC020923;BC035968;BC039380;BI559571;BP369816;BQ184144;CH471081;CQ783210;CQ783238;DA843541;DQ679794;NG_031965;NM_001114086;NM_001256023;NM_016929;NR_045672;NR_045673;NR_045674;XM_006715114;XM_006715115 AAF66928;AAH20923;AAH35968;AAH39380;AAK52083;AAQ13664;ABG46342;ABM83569;ABM86807;BAC11432;BAC11444;BAD96264;BAD96850;BAG37037;BAG53413;CAF86413;CAF86432;EAX04285;EAX04286;EAX04287;NP_001107558;NP_001242952;NP_058625;Q9NZA1;XP_006715177;XP_006715178 Hs.485489;Hs.734348 1658418;1679786;1708662;1714167;1721689;1755703;2109161;2116261;2147026;2158761;2164541;2171137;2183031;5092946 A009C40;CLIC5_9767;D6S1920;G32428;G59707;RH119692;RH98972;SHGC-142542;SHGC-53210;SHGC-60239;SHGC-85135;STS-H13265;WI-21120;WI-21687 CLIC5B;FLJ90663;MST130;MSTP130;dJ447E21.4 OTTHUMP00000016537;OTTHUMP00000016538;chloride intracellular channel 5A;chloride intracellular channel protein 5 APPROVED protein-coding ENSG00000112782 HGNC:13517 06292 607293 REVIEWED 1315278 CLIC2 chloride intracellular channel 2 This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein may play a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of X-linked mental retardation-32. [provided by RefSeq, Aug 2013] X X X q28 154664011 154722432 - 154505500 154563997 - 155276207 155334681 - 1580863;6480464;8699517;7240710;8554872 11076863;11256614;12477932;12601004;12681486;1311421;15147738;15489334;15489336;15772651;15916532;16130169;16344560;16381901;17945253;18007051;18186468;19738201;19953087;21357393;21630357;21906983;22814392;23000965;23871722;8908511;9339381 1193 A6PVS0;O15247 ABBA01029136;ABBA01029137;ABBA01029138;ABBA01029139;ABBA01029140;ABBA01029141;ABBA01029142;ABBA01029143;ABBA01029144;ABBA01029145;ABBA01029146;AC234781;AJ000217;AJ000218;AJ000219;AK292785;AL356738;AMYH02040867;AMYH02040868;AMYH02040869;AW961768;AY191592;BC005367;BC022305;BQ004708;BX482109;CD691162;CH471172;DA901964;NG_012497;NM_001289;Y12696 AAH22305;AAO38670;ABM82940;ABM86130;BAF85474;CAA03948;CAA73228;CAI41464;CAL37933;CAO77905;EAW72624;EAW72625;NP_001280;O15247 Hs.655445 1682666;1698880 RH103007;RH79860 CLIC2b;MRXS32;XAP121 OTTHUMP00000024248;OTTHUMP00000196471;chloride intracellular channel protein 2 APPROVED protein-coding ENSG00000155962 HGNC:2063 02139 300138;300886 REVIEWED 1603664 CLIP3 CAP-GLY domain containing linker protein 3 This gene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] 19 19 19 q13.12 33219743 33237958 - 36505562 36523797 - 36014660 36032895 - 6480464;8554872 11854307;12477932;14702039;15262990;15489334;16344560;18854154;19139280;20052288;21139048;22297296;22505724;24001771 25999 K7ESF3;Q96DZ5 ABBA01018777;AC002116;AJ427922;AK056445;AK090732;AK092354;AK094738;AK289509;AK294748;AL117468;AMYH02035999;BC013116;BC014486;BC128090;DA398172;DA406432;HI574094;NM_001199570;NM_015526 AAH13116;AAH14486;BAF82198;BAG52221;BAG52536;BAG52921;BAG57888;CAB55943;CAD20873;CBX47536;NP_001186499;NP_056341;Q96DZ5 Hs.466539 2110321;2153649;2161210;2169509 CLIPR-59__4586;D19S673E;RH12731;WI-15016 CLIPR-59;CLIPR59;DKFZp586N1922;FLJ33413;RSNL1 CAP-Gly domain-containing linker protein 3;CLIP-170-related 59 kDa protein;CLIP-170-related protein;cytoplasmic linker protein 170-related 59 kDa protein;restin-like 1 APPROVED protein-coding ENSG00000105270 HGNC:24314 09572 607382 REVIEWED 69221 CLIP1 CAP-GLY domain containing linker protein 1 The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 12 12 12 q24.3 122346248 122498975 - 122755981 122907179 - 122271434 122423034 - 1580863;6480464;6484113;8554872 10052454;11290329;11940666;11966772;12110184;12231510;12433698;12477932;12789661;12833147;12885786;1356075;14702039;15262990;15302935;15345747;15572129;15840729;15862147;15928712;1600942;16083285;16120651;16362039;16455083;16565220;16574066;16772339;16964243;17081983;17563362;17828275;17828277;17889670;18029348;18237546;18622020;19004523;19020519;19126680;19687009;20360068;20664522;21139048;21989536;22119847;22424550;22543185;22863883;23549612;24255178;24451569;24816145;7983157;8222754;8889548;9784600 6249 B3KXA5;F5H0N7;F5H1T5;F5H270;F5H367;F5H6A0;F5H6H4;F6VGP8;J3KP58;P30622 AB209115;ABBA01060470;ABBA01060471;ABBA01060472;ABBA01060473;AC048338;AC079406;AC093016;AC127002;AF045652;AF045653;AK123769;AK126990;AMYH02027418;AMYH02027419;AMYH02027420;AMYH02027421;AMYH02027422;AY563000;BC039081;BC047895;BC062543;BC114213;BC117209;BC126305;BM998166;CB305431;CH471054;M97501;NG_030352;NM_001247997;NM_002956;NM_198240;X64838;XM_005253593;XM_005253594;XM_005253595;XM_006719551;XM_006719552;XM_006719553;XM_006719554;XM_006719555 AAA35693;AAC03549;AAC03550;AAH47895;AAH62543;AAI14214;AAI17210;AAI26306;AAS75590;BAD92352;BAG54417;CAA46050;EAW98320;EAW98321;EAW98322;EAW98323;NP_001234926;NP_002947;NP_937883;P30622;XP_005253650;XP_005253651;XP_005253652;XP_006719614;XP_006719615;XP_006719616;XP_006719617;XP_006719618 Hs.524809 1674790;1704072;1720781;1736212;1736224;1736234;1746433;1854908;2106757;2106759;2106761;2118383;2124065;2149950;2187641 D12S1158E;D12S1167E;D12S1172E;D12S1321;D12S1902;G29081;G59364;G64573;GC04S12;GC04S14;GC04S1920;RH45231;SHGC-83339;STS-X64838;WI-14983 CLIP;CLIP-170;CLIP170;CYLN1;MGC131604;RSN CAP-Gly domain-containing linker protein 1;OTTHUMP00000239757;OTTHUMP00000239758;OTTHUMP00000239759;OTTHUMP00000239761;Reed-Steinberg cell-expressed intermediate filament-associated protein;cytoplasmic linker 1;cytoplasmic linker protein 1;cytoplasmic linker protein 170 alpha-2;cytoplasmic linker protein CLIP-170;reed-Sternberg intermediate filament-associated protein;restin;restin (Reed-Steinberg cell-expressed intermediate filament-associated protein) APPROVED protein-coding ENSG00000130779 HGNC:10461 01568 179838 REVIEWED 734383 CLIP2 CAP-GLY domain containing linker protein 2 The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 69183344 69299516 + 73703805 73820273 + 74289475 74405943 + 734863;6480464;8554872 12195424 11290329;12168954;12477932;12853948;14760703;15122254;15790807;17081983;20379614;20936779;21606360;22558309;22608712;8812460;9179496;9799601;9847074 7461 A7E2F7;H7C4L6;H7C5H8;Q9UDT6 AB006629;ABBA01063894;ABBA01063895;ABBA01063896;ABBA01063897;ABBA01063898;ABBA01063899;ABBA01063900;AC005015;AF041055;AF041056;AF041057;AF041058;AF041059;AI204077;AL157546;AMYH02016045;AMYH02016046;AMYH02016047;AMYH02016048;AMYH02016049;AMYH02016050;AMYH02016051;AMYH02016052;AY295764;AY927468;AY927469;BC006259;BC150332;CH471200;NG_011830;NM_003388;NM_032421 AAB96784;AAF03524;AAI40370;AAI48703;AAI50333;AAP91873;BAA22960;EAW69603;EAW69604;NP_003379;NP_115797;Q9UDT6 Hs.647018 1669419;1712168;1790421;2129542;2146101;2149727;5037592 D7S3020E;D7S3282;G54134;GDB:1317584;GDB:1317824;GDB:1318204;GDB:4584934 CLIP;CLIP-115;CYLN2;KIAA0291;MGC11333;WBSCR3;WBSCR4;WSCR3;WSCR4 CAP-Gly domain-containing linker protein 2;OTTHUMP00000160723;OTTHUMP00000160724;Williams-Beuren syndrome chromosome region 3;Williams-Beuren syndrome chromosome region 4;cytoplasmic linker 2;cytoplasmic linker protein 115;cytoplasmic linker protein 2;williams-Beuren syndrome chromosomal region 3 protein;williams-Beuren syndrome chromosomal region 4 protein APPROVED protein-coding ENSG00000106665 HGNC:2586 09140 603432 REVIEWED 1350068 CLIP4 CAP-GLY domain containing linker protein family, member 4 INTERACTS WITH (+)-catechin; 17beta-estradiol; all-trans-retinoic acid 2 2 2 p23.2 29182715 29251081 + 29320542 29406679 + 29097676 29183813 + 6480464 12477932;14702039;15489334;21139048;21832049 79745 A8K6D0;B5MCH3;B7Z936;C9IYE4;E7EW06;E9PBB1;G3XAK3;Q8N3C7 AA429893;AB209042;ABBA01045243;ABBA01045244;AC093593;AC105398;AF433661;AI433385;AK023505;AK024722;AK057267;AK225074;AK291595;AK302325;AK304384;AL601363;AL834443;AMYH02003506;BC013862;BC015310;BC107760;BC126167;BC136331;BI600762;BQ025066;CH471053;DC317668;NM_001287527;NM_001287528;NM_024692;NR_109844;XM_005264562;XM_005264563;XM_005264564;XM_006712104;XM_006712105 AAH15310;AAI26168;AAI36332;AAP97312;AAX88898;AAY24165;ADR83093;BAB14974;BAB71403;BAD92279;BAF84284;BAH13674;BAH14172;CAD39103;EAX00509;EAX00510;EAX00511;EAX00512;EAX00513;EAX00514;EAX00515;NP_001274456;NP_001274457;NP_078968;Q8N3C7;XP_005264619;XP_005264620;XP_005264621;XP_006712167;XP_006712168 Hs.122927 1683753;1709096;1728471;1856330;2162697 D2S2934;G63673;RH92262;SHGC-85703;WI-11551 FLJ21069;FLJ32705;RSNL2 CAP-Gly domain-containing linker protein 4;OTTHUMP00000123516;OTTHUMP00000201012;OTTHUMP00000201013;OTTHUMP00000201014;OTTHUMP00000201016;restin-like 2;restin-like protein 2 protein-coding ENSG00000115295 HGNC:26108 08634 VALIDATED 8548313 CLK3P1 CDC-like kinase 3 pseudogene 1 9 9 9 p22.1 19821466 19821886 - 19895560 19895980 - 19895562 19895982 - 646505 ABBA01065191;AL158077;AMYH02019273;NG_007302 pseudo HGNC:49785 INFERRED 1343354 CLK2 CDC-like kinase 2 This gene encodes a dual specificity protein kinase that phosphorylates serine/threonine and tyrosine-containing substrates. Activity of this protein regulates serine- and arginine-rich (SR) proteins of the spliceosomal complex, thereby influencing alternative transcript splicing. Chromosomal translocations have been characterized between this locus and the PAFAH1B3 (platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)) gene on chromosome 19, resulting in the production of a fusion protein. Note that this gene is distinct from the TELO2 gene (GeneID:9894), which shares the CLK2 alias, but encodes a protein that is involved in telomere length regulation. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 1 1 1 q21 128305910 128316453 - 155232659 155243305 - 155262868 155273514 - 1580863;6480464 10480872;11285245;11579209;12477932;12705895;14702039;14759258;15324660;15489334;16189514;16344560;17384638;18978788;18995830;19097996;19168442;19282290;20064461;20682768;21682887;21988832;22939624;23376537;23602568;24457600;7990150;8910305;9331372;9637771;9758629;9852100;9856501 1196 A8K7I0;B1AVT0;B7Z8N6;P49760;Q9BRG8 ABBA01016711;AF023268;AK091036;AK291995;AK303696;AL713999;AMYH02001942;AU136826;BC006274;BC014067;BC053603;BI562223;CH471121;HH961872;HY049688;L29216;L29218;NM_001294338;NM_001294339;NM_003993;XM_005244876;XM_005244878;XM_005244879;XM_005276742;XM_005276744;XM_005276745;XR_241067;XR_254196 AAA61481;AAA61482;AAC51817;AAH06274;AAH14067;AAH53603;BAF84684;BAG52265;BAH14022;CBX51409;EAW53087;EAW53088;EAW53089;NP_001281267;NP_001281268;NP_003984;P49760;XP_005244933;XP_005244935;XP_005244936;XP_005276799;XP_005276801;XP_005276802 Hs.73986 1678651;2107939;2175184 CLK2_8263;D7S2838;RH69036 MGC61500;hCLK2 CLK kinase;OTTHUMP00000034063;OTTHUMP00000034064;OTTHUMP00000034065;dual specificity protein kinase CLK2 APPROVED protein-coding ENSG00000176444 HGNC:2069 04289 602989 REVIEWED 1602726 CLINT1 clathrin interactor 1 This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 5 5 5 q33.3 153242947 153315821 - 157212751 157286183 - 157785743 157859175 - 6480464 10942595;11031247;11252894;12213833;12429846;12477932;12538641;12589059;12858162;14675752;14702039;15068792;15324660;15342556;15371541;15489334;15793701;15840729;16196087;16402136;17081983;17110338;17116749;17506864;18033301;18696005;18929466;19322201;19380743;19615732;19946888;20360068;20379614;20398908;20562859;21116212;21139048;21145461;21890473;21906983;21963094;21987572;22118674;22505724;22863883;22939629;23000965;23398456;23443559;24332808;24457600;24816145;8724849 9685 H0YCL3;H0YD52;H0YDU9;Q14677 ABBA01044263;AC011394;AC026407;AF434813;AK092765;AK128594;AK300257;AL529948;AL833548;AMYH02012557;AMYH02012558;AMYH02012559;BC004467;BC013091;BC030264;BI461076;BK000414;BP246338;CH471062;D79993;NG_027820;NM_001195555;NM_001195556;NM_014666 AAH04467;AAH13091;AAL30768;BAA11488;BAC03971;BAH13244;DAA00062;EAW61585;EAW61586;EAW61587;EAW61588;NP_001182484;NP_001182485;NP_055481;Q14677 Hs.644000 1644224;1672267;1690864;1691306;1735540;1791278;1791280;2148345;2190583;5017701;5022578;5109663 CLINT1;D1S1423;D5S1669E;D5S1853;D7S2067E;EST8G9;MARC_9843-9844:996688654:1;MARC_9845-9846:996688657:1;RH25388;RH65700;RH98311;WI-11894 CLINT;ENTH;EPN4;EPNR;FLJ46753;KIAA0171 OTTHUMP00000224197;OTTHUMP00000224198;OTTHUMP00000224199;OTTHUMP00000229827;clathrin interacting protein localized in the trans-Golgi region;clathrin-interacting protein localized in the trans-Golgi region;enthoprotin;epsin 4;epsin-4;epsin-related protein;epsinR APPROVED protein-coding ENSG00000113282 HGNC:23186 06273 607265 REVIEWED 733625 CLK3 CDC-like kinase 3 This gene encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq, Jul 2008] 15 15 15 q24 51850648 51872477 + 74898327 74922542 + 74605995 74630201 + 1580863;6480464 12477932;14702039;14759258;15324660;15489334;16189514;17000644;17081983;17192257;18029348;19168442;19426592;19946888;19953087;20811636;21044950;21832049;21906983;21963094;21988832;22939624;23455924;23602568;24250222;24457600;24654937;7990150;8125298;8889548;9637771;9856501 1198 B3KRI8;B3KTV2;H3BNC8;H3BNQ5;H3BQG1;H3BQR7;H3BRE4;H3BRK0;H3BRT8;H3BRW2;H3BTW9;H3BUL5;H3BV35;H3BVF8;P49761 AB209535;ABBA01060496;AC100835;AK026511;AK091692;AK096115;AK097982;AK122860;AK225680;AK291983;AK293769;AK301689;AL833165;AMYH02030795;BC002555;BC006103;BC009857;BC019881;BI459843;BM678884;BQ183959;BT006993;CH471136;CR933693;L29217;L29220;NM_001130028;NM_003992;XM_005254151;XM_005254152;XM_005254153;XM_005254154;XM_006720383;XM_006720384 AAA61483;AAA61484;AAH02555;AAH06103;AAH19881;AAP35639;ADZ15416;BAD92772;BAF84672;BAG52400;BAG53214;BAG53559;BAG53765;BAG57185;BAG63161;EAW99320;EAW99321;EAW99322;EAW99323;EAW99324;EAW99325;NP_001123500;NP_003983;P49761;XP_005254208;XP_005254209;XP_005254210;XP_005254211;XP_006720446;XP_006720447 Hs.584748 1681418;1689855;1707356;2109163 CLK3_8264;RH80794;RH93055;SHGC-79300 FLJ22858;PHCLK3;PHCLK3/152 OTTHUMP00000180678;OTTHUMP00000233457;dual specificity protein kinase CLK3 APPROVED protein-coding ENSG00000179335 HGNC:2071 04290 602990 REVIEWED 8551557 CLIP1-AS1 CLIP1 antisense RNA 1 12 12 12 122470602 122475007 + 122880089 122884491 + 122395542 122399944 + 100507066 ABBA01060471;AC093016;AI652996;AMYH02027422;BX097749;DB443977;HG505278;NG_030352;NR_045382 Hs.624253 ncrna HGNC:48586 VALIDATED 8548118 CLK3P2 CDC-like kinase 3 pseudogene 2 1 1 1 q44 221384686 221386000 - 248099116 248100430 - 247935814 247937128 - 100128834 ABBA01031794;AC099571;AMYH02003144;NG_007301 pseudo HGNC:49786 INFERRED 1322944 CLK1 CDC-like kinase 1 This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 2 2 2 q33 195472364 195484097 - 201717732 201729467 - 200853009 200864744 - 1580863;6480464;8554872;7240710 10480872;10954422;11418604;11461155;11579209;12477932;12549978;12565863;12705895;12773558;12890497;14759258;15010457;15324660;15383276;16009940;16169070;16223727;16344560;1704889;17081983;1825055;18814951;18978788;19168442;21139048;21682887;23455924;23602568;23707382;23824909;24869919;7990150;8617202;8798720;8973360;9856501 1195 B8ZZR0;F8WBF5;P49759 ABBA01062522;AC005037;AI251890;AK025306;AK289365;AK294295;AK307301;AK316127;AMYH02005542;AMYH02005543;BC028149;BC028573;BC031549;BE241788;CH471063;DA225472;DB164846;FB775550;L29219;L29222;M59287;NM_001162407;NM_004071;NR_027855;NR_027856 AAA61480;AAB59459;AAH28149;AAH31549;AAY14722;BAF82054;BAG57578;BAH14498;CAV30732;EAW70215;EAW70216;EAW70217;EAW70218;EAW70219;NP_001155879;NP_004062;P49759 Hs.433732 1683922;1688211;5022578 D1S1423;RH80114;RH80225 CLK;CLK/STY;STY CDC28/CDC2-like kinase;OTTHUMP00000163673;OTTHUMP00000206164;OTTHUMP00000206165;OTTHUMP00000206166;dual specificity protein kinase CLK1;protein tyrosine kinase STY APPROVED protein-coding ENSG00000013441 HGNC:2068 09058 265050;601951 REVIEWED 1345997 CLK2P CDC-like kinase 2, pseudogene 7 7 7 p15.3 23613110 23614921 - 23624335 23626146 - 23584716 23586527 - 12477932;12690205;7990150;9856501 1197 ABBA01056713;AC006026;AMYH02015369;BC022025;CH236948;NR_002711 EAL24254;EAL24255 Hs.632635 1678651;2175184 D7S2838;RH69036 pseudo HGNC:2070 VALIDATED 1602256 CLLU1 chronic lymphocytic leukemia up-regulated 1 FOUND IN cytoplasm (inferred) 12 12 12 q22 92486543 92496012 + 92815307 92824778 + 92421531 92431002 + 16339396;16529606;17284524;17786715;18457263;19212335;19726446;21323738;22738889;22899580 574028 Q5K131 ABBA01053394;AC063949;AJ845162;AJ845163;AJ845164;AJ845165;AJ845166;AJ845167;AMYH02026929;GM041586;NM_001025233;NR_027932;NR_027933 AAI40253;AAI46526;CAH61080;CAH61081;CAS97697;NP_001020404;Q5K131 Hs.730377 5022578;5022651;5118444 D11S2921;D11S3316;D1S1423 OTTHUMP00000220954;chronic lymphocytic leukemia up-regulated protein 1 protein-coding ENSG00000257127 HGNC:29841 PROVISIONAL 1604877 CLLU1OS chronic lymphocytic leukemia up-regulated 1 opposite strand 12 12 12 q22 92485106 92493158 - 92813870 92821924 - 92420094 92428148 - 16339396 574016 Q5K130 ABBA01053394;AC063949;AJ845168;AMYH02026929;NM_001025232 AAI48494;AAI53087;CAH61082;NP_001020403;Q5K130 Hs.551199 OTTHUMP00000220955;chronic lymphocytic leukemia up-regulated 1 overlapping strand;putative chronic lymphocytic leukemia up-regulated protein 1 opposite strand transcript protein protein-coding ENSG00000205057 HGNC:24070 PROVISIONAL 1350291 CLM cutis laxa with marfanoid phenotype 2704655 1199 HGNC:2072 1347877 CLN4 ceroid-lipofuscinosis, neuronal 4 (Kufs disease) 1202 HGNC:2075 1602686 CLMP CXADR-like membrane protein The CTX (see VSIG2, MIM 606011) family of proteins, including ASAM, are type I transmembrane proteins within the Ig superfamily that localize to junctional complexes between endothelial and epithelial cells and may play a role in cell-cell adhesion (Raschperger et al., 2004 [PubMed 14573622]).[supplied by OMIM, Mar 2008] 11 11 11 q24.1 120102350 120225315 - 122943020 123066007 - 123072312 123195299 - 6480464;8554872 12107410;12477932;12851705;12975309;14573622;15563274;17207965;17538635;18029348;19581412;20379614;21982860;22155368;22718816;22992863;23460781 79827 Q9H6B4 ABBA01031275;ABBA01031276;AK026068;AK304843;AMYH02025709;AMYH02025710;AMYH02025711;AMYH02025712;AP000926;AP001970;AY326422;AY358340;BC009371;BE272517;BG723094;BK001245;CA395814;CH471065;CQ802458;NM_024769 AAH09371;AAP88386;AAQ88706;ADQ32343;BAB15347;BAG65585;CAG28887;DAA01139;EAW67543;EAW67544;EAW67545;NP_079045;Q9H6B4 Hs.591949 1645326;1737099 D11S1210;D11S2864 ACAM;ASAM;CSBM;CSBS;FLJ22415 CAR-like membrane protein;OTTHUMP00000231761;adipocyte adhesion molecule;adipocyte-specific adhesion molecule;coxsackie- and adenovirus receptor-like membrane protein 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H APPROVED protein-coding HGNC:24039 16513 611693;615237 VALIDATED 1343617 CLN7 ceroid-lipofuscinosis, neuronal 7, late infantile, variant ASSOCIATED WITH Ceroid Lipofuscinosis, Neuronal, 7 (inferred) 7240710 1206 HGNC:2078 610951 1345435 CLN3 ceroid-lipofuscinosis, neuronal 3 This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p12.1 27700143 27715170 + 28488600 28505897 - 28466653 28492302 - 1598669;1580863;6480464;7240710;8554872;8699517 15240864 10191111;10191112;10191115;10191116;10332042;10493829;10509355;10740217;10924275;11375929;11590129;11699874;11722572;12125809;12134079;12189165;12440525;12477932;12706816;14622109;14660799;14699076;14702039;14759258;15032383;15240430;15302935;15342556;15469932;15471887;15489334;15598649;15657902;16087292;16251196;16291725;16344560;16515873;16714284;17081983;17189291;17286803;17482562;17868323;17896996;17897319;17947292;18187620;18265413;18317235;18552385;18678598;18817525;19028667;19299465;19322201;19489875;19915574;20015955;20187884;20301334;20301601;20562859;20875858;20933060;20972266;21102463;21139048;21359198;21890473;21906983;21963094;21987636;22053931;22261744;2271648;23464991;23840424;24154662;24827497;25015289;7553855;7887420;8980123;9004140;9119403;9311735;9384607;9450775;9490299;9949212 1201 B4DFF3;B4DMY6;B4DXL3;H3BMN4;H3BNK7;H3BPL0;H3BPM8;H3BQ08;H3BQ48;H3BR84;H3BRU8;H3BUF8;O95090;Q13286;Q2TA70;Q9UBD8;Q9UBH5 ABBA01043652;ABBA01043653;AC002425;AC002544;AC138894;AF015593;AF015594;AF015595;AF015596;AF015597;AF015598;AF015599;AF015600;AF015601;AF015602;AF077956;AF077957;AF077958;AF077959;AF077960;AF077961;AF077962;AF077963;AF077964;AF077965;AF077966;AF077967;AF077968;AF077969;AF077970;AF077971;AF077972;AF077973;AF078168;AF078169;AI138575;AK090709;AK294070;AK294250;AK295500;AK297690;AK302027;AK302138;AK313002;AMYH02031790;AU105965;BC002394;BC004433;BC111068;BK001540;BP252176;CH471279;CQ834698;DA552461;DA703317;DA869025;DB101039;EF587244;EF587245;NG_008654;NM_000086;NM_001042432;NM_001286104;NM_001286105;NM_001286109;NM_001286110;U32680;X99832 AAB51075;AAC05337;AAC27430;AAD01555;AAD01556;AAD01557;AAD01558;AAD01559;AAD01560;AAD01561;AAD01562;AAD01563;AAD01564;AAD48542;AAD48543;AAD51478;AAD51479;AAD51480;AAD51481;AAD51482;AAD51483;AAD51484;AAD51485;AAD51486;AAD51487;AAD51488;AAD51489;AAD51490;AAD51491;AAD51492;AAD51493;AAD51494;AAD51495;AAH02394;AAH04433;AAI11069;ABW04812;ABW04813;BAG35838;BAG57414;BAG57546;BAG58420;BAG60048;BAG63425;BAG63512;CAA68148;CAH05564;DAA02067;EAW52281;EAW52282;EAW52283;EAW52284;EAW52285;EAW52286;EAW52287;EAW52288;EAW52289;EAW52290;EAW52291;EAW52292;EAW52293;EAW52294;EAW52295;EAW52296;EAW52297;EAW52298;EAW52299;NP_000077;NP_001035897;NP_001273033;NP_001273034;NP_001273038;NP_001273039;Q13286 Hs.534667 1340798;1667490;1687748;1737579;2136846;2191665;5022578;5022830;7185264 CLN3_s13;D16S2668;D16S298;D16S3081;D16S3212;D1S1423;MARC_4175-4176:996679465:3;RH70509 BTS;JNCL;MGC102840 OTTHUMP00000122517;batten disease protein;battenin APPROVED protein-coding ENSG00000188603;ENSG00000261832 HGNC:2074 08450 204200;607042 REVIEWED 1321078 CLK4 CDC-like kinase 4 The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008] 5 5 5 q35 173657123 173681183 - 178029664 178054093 - 178602663 178627112 - 1580863;6480464 11170754;12169693;12477932;12705895;12824502;16712791;17081983;19168442;21988832;23602568 57396 E7ES88;E7EWJ6;Q68D95;Q6P090;Q9HAZ1 ABBA01010003;AC022096;AF294429;AK304614;AK308674;AK308879;AK310427;AK311485;AMYH02012866;BC015942;BC034633;BC046211;BC063116;BC065732;BC136261;BC143538;BC143547;BC151233;BX647323;CB127989;CH471165;CR749504;NM_020666;XM_005265947;XM_005265948;XM_005265949;XM_006714895;XM_006714896;XR_427807 AAG10074;AAH34633;AAH65732;AAI36262;AAI43548;BAH14226;CAH18325;EAW53831;EAW53832;NP_065717;Q9HAZ1;XP_005266004;XP_005266005;XP_005266006;XP_006714958;XP_006714959 Hs.406557 1645462 WI-18382 DKFZp686A20267 OTTHUMP00000161494;dual specificity protein kinase CLK4;protein serine threonine kinase Clk4 APPROVED protein-coding ENSG00000113240 HGNC:13659 12140 607969 REVIEWED 1315532 CLMN calmin (calponin-like, transmembrane) ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN negative regulation of cell proliferation (inferred); neuron projection development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 14 14 14 q32.13 75704392 75842388 - 95648276 95786245 - 95181939 95319908 - 1580863;6480464;8554872 10574461;11386753;12477932;12508121;14702039;16712791;20195266;20339536;22747683;23080069;23535033;9455484 79789 G3V3D8;G3V4C0;G3V5E0;G3V5U3;Q6NUQ2;Q96JQ2 AB007969;AB033014;AB047979;ABBA01030403;AK022279;AK023828;AK025226;AK125038;AK314315;AL117187;AL117526;AL356017;AMYH02029793;AMYH02029794;BC014554;BC025251;BC032699;BC040108;BC049365;BC068482;CB155696;CH471061;NM_024734;XM_006720256;XR_245721;XR_245722;XR_429330;XR_429331;XR_429332 AAH14554;AAH25251;AAH32699;AAH68482;BAA86502;BAB13999;BAB15087;BAB59010;BAG36964;BAG51227;CAB55978;EAW81597;EAW81598;NP_079010;Q96JQ2;XP_006720319 Hs.301478 1336123;1674242;1677674;1682219;1693668;7184455 D14S265;RH46343;RH92858;SHGC-58595;WI-11595 FLJ12383;FLJ43048;KIAA0500;KIAA1188 OTTHUMP00000246617;calmin;calponin like transmembrane domain protein;calponin-like transmembrane domain protein protein-coding ENSG00000165959 HGNC:19972 13076 611121 VALIDATED 1315879 CLN5 ceroid-lipofuscinosis, neuronal 5 This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008] 13 13 13 q21.1-q32 58464047 58474640 + 77566059 77576652 + 76991924 77002517 + 1580863;6480464;7240710;8554872;8699517 10477428;10740217;10992246;11722572;11971870;12125809;12134079;14997939;15728307;16399764;16814585;17353931;17607606;19174516;19201763;19309691;193610;19941651;20052765;20157158;20301334;20301601;20467438;21890473;21906983;22431521;23160995;23464991;24058541;24250222;7942847;8661106;9662406 1203 B4E1V6;O75503 ABBA01021659;AC001226;AF068227;AK075109;AK304001;AMYH02028311;CH471093;NG_009064;NM_006493 AAC27614;AAI46275;AAI53155;AAI72583;BAG52069;BAG64918;EAW80561;EAW80562;NP_006484;O75503 Hs.30213 1776881;1782968;2128458;2152818;2180758;5093176;5094987 A009I22;CLN5;G32564;RH44829;RH46145;SHGC-56376;STS-H96517 FLJ90628;NCL OTTHUMP00000018521;ceroid-lipofuscinosis neuronal protein 5 APPROVED protein-coding HGNC:2076 07619 256731;608102 REVIEWED 1351774 CLNS1AP1 chloride channel, nucleotide-sensitive, 1A pseudogene 1 6 6 6 p12-q13 56011502 56012855 - 54349297 54350651 - 54484499 54485853 - 8975725;9524223 1204 ABBA01050516;AL031885;AMYH02013754;NG_002905 CLNS1B;ICln APPROVED pseudo HGNC:2081 INFERRED 732210 CLNS1A chloride channel, nucleotide-sensitive, 1A This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. [provided by RefSeq, Feb 2009] 11 11 11 q13.5-q14 74634866 74656525 - 77327196 77348851 - 77616151 77637806 - 1580863;6480464 10330151;10825435;11713266;11747828;11756452;12477932;14960305;15075326;15130578;15489334;15905169;16033995;16087681;16169070;16344560;16368544;16734741;17081983;17620599;18187620;18984161;19167051;19520849;19615732;19738201;20379614;20462248;21081503;21139048;21890473;21906983;21917931;21988832;22053931;22113938;22268729;22365833;22689669;22797925;22863883;22939629;23000965;23084401;23184937;23246001;23398456;23438482;24298023;7887970;8579598;8975725;9359436;9533029;9556550;9694734 1207 E9PJF4;E9PMI6;E9PQ83;H0YEN9;J3KN38;P54105;U3KPU0 AA757599;ABBA01017425;ABBA01017426;AF005422;AF026003;AF232224;AF232225;AF232708;AK315259;AMYH02025136;AP000609;BC119634;BC119635;BT019907;CH471076;DA004269;NM_001293;U17899;U53454;X91788 AAB03316;AAB61444;AAB88806;AAC50111;AAF76858;AAF76859;AAF76861;AAI19635;AAI19636;AAV38710;BAG37676;CAA62902;EAW75032;NP_001284;P54105 Hs.430733 1681614;1778790;1849640;2111356;2136268;2155262;2167092;2218386;5121312 A006P03;CLNS1A_4589;D11S2225E;RH12124;RH15619;SHGC-31540;SHGC-3577;WI-20222;WI-22335 CLCI;CLNS1B;ICln;i(Cln) OTTHUMP00000228612;OTTHUMP00000228613;OTTHUMP00000228614;OTTHUMP00000228843;OTTHUMP00000228845;chloride channel regulatory protein;chloride channel, nucleotide sensitive 1A;chloride conductance regulatory protein ICln;chloride ion current inducer protein;methylosome subunit pICln;reticulocyte pICln;reticulocyte protein ICln APPROVED protein-coding ENSG00000074201 HGNC:2080 03694 602158 REVIEWED 1605010 CLNK cytokine-dependent hematopoietic cell linker MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008] 4 4 4 p16.1 10956589 11151166 - 10491838 10686386 - 10490214 10684762 - 6480464;8554872 10562326;10744659;11463797;12477932;14702039;16273093;18987618;20379614;22561518;24390342 116449 D6RJB9;Q7Z7G1 AB032369;AB110420;ABBA01032521;ABBA01032522;ABBA01032523;AC005599;AC084048;AK093001;AMYH02008749;AMYH02008750;AMYH02008751;BC029887;BC137553;BC137556;CH471069;NM_052964 AAH29887;AAI37554;AAI37557;BAA96241;BAC76765;BAG52635;EAW92693;NP_443196;Q7Z7G1 Hs.678910 1337177;1695186;1719133;1776397;1847544;2181306;2182362;2189177;5022322;5109281 AFMA184ZA9;D11S2560;D1S1425;D4S1214;D4S2928;D4S558;G48234;G65115;RH123284;SHGC-50469 MGC35197;MIST OTTHUMP00000217414;mast cell immunoreceptor signal transducer APPROVED protein-coding ENSG00000109684 HGNC:17438 14720 611434 VALIDATED 1320201 CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008] 15 15 15 q23 45384244 45406985 - 68499330 68522081 - 68206992 68229742 - 1358512;1580863;6480464;7240710;8554872;8699517 11791207 10740217;11722572;11727201;12477932;12673792;12815591;14702039;15010453;15146197;15265688;15489334;15996215;16303743;16857350;17081983;17453415;18811591;19135028;19201763;19235893;19520283;19946888;20020536;20301334;20301601;21139048;21359198;21549341;21987572;22190034;22883287;23180398;23377640;23455922;24457600;9097964 54982 H3BNF1;H3BTY4;H3BUT1;H3BUV4;Q9NWW5 ABBA01038785;AC107871;AK000568;AK027604;AK074753;AK124013;AK291175;AK293155;AK293197;AMYH02030681;AMYH02030682;BC010849;BC013130;BM149330;CA446197;CH471082;CN427564;CR457244;NG_008764;NM_017882 AAH10849;AAH13130;ABM82406;ABW03399;BAA91260;BAB55226;BAC11181;BAF83864;BAG56700;BAG56737;CAG33525;EAW77811;EAW77812;EAW77813;EAW77814;EAW77815;EAW77816;NP_060352;Q9NWW5 Hs.584921 2109165;2152602;2161399;5022200;5022578 CLN6_9860;D1S1423;L18426;STS-W81097;WI-11786 CLN4A;FLJ20561;HsT18960;nclf OTTHUMP00000164387;ceroid-lipofuscinosis neuronal protein 6 APPROVED protein-coding ENSG00000128973 HGNC:2077 05991 204300;601780;606725 REVIEWED 1346223 CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008] 8 8 8 p23 1654899 1677784 + 1703944 1734736 + 1755778 1786570 + 1580863;6480464;7240710;8554872;8699517 10508524;10740217;10861296;11073227;12151215;12477932;14508709;14702039;15024724;15489334;16086686;16344560;17129765;19201763;19431184;19807737;20301334;20301601;22388998;22964447;23142642;23160995;24250222;8743986 2055 Q9UBY8 ABBA01016744;ABBA01016745;AC100810;AF123757;AF123758;AF123759;AF123760;AF123761;AK096736;AK312486;AMYH02017229;AW296697;BC007725;BC136825;BT007049;CH471181;CS072298;DA193710;NG_008656;NM_018941;XM_005266021;XM_005266022;XM_005266023;XM_005266024;XM_005266025;XM_005266026;XM_005266027;XM_005266028;XM_006725753;XM_006725754;XM_006725755;XM_006725756;XM_006725757;XM_006725758;XM_006725759 AAF13115;AAF13116;AAF13117;AAF13118;AAF13119;AAH07725;AAI36826;AAP35698;BAC04854;CAI93436;EAW51477;EAW51478;EAW51479;NP_061764;Q9UBY8;XP_005266078;XP_005266079;XP_005266080;XP_005266081;XP_005266082;XP_005266083;XP_005266084;XP_005266085;XP_006725816;XP_006725817;XP_006725818;XP_006725819;XP_006725820;XP_006725821;XP_006725822 Hs.127675 1648037;1655970;1764989;5016851;5120437 AFM265wb5;GDB:315881;RH47694;RH80031;SHGC-148543 C8orf61;EPMR;FLJ39417 OTTHUMP00000115401;putative uncharacterized protein C8orf61 APPROVED protein-coding ENSG00000182372 HGNC:2079 06383 600143;607837;610003 REVIEWED 1602724 CLP1 cleavage and polyadenylation factor I subunit 1 This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] 11 11 11 q12 54781701 54785822 + 57425216 57429337 + 57657743 57661865 + 6480464;6907045;8699517;7240710;8554872 11060040;11384994;12226669;12477932;15109492;15489334;16344560;17495927;18648070;19471022;20360068;21139048;21832049;21906983;21963094;24250222;24766809;24766810;24816145;8896421 10978 E9PJM4;E9PKV5;E9PL17;Q92989 ABBA01021475;AK300232;AK313007;AMYH02024844;AP000662;BC000446;CH471076;DA922553;FB570265;FB718183;NG_034248;NM_001142597;NM_006831;U73524;XM_006718425 AAC50780;AAH00446;BAG35843;BAG62000;CAR94986;CAS91776;EAW73770;NP_001136069;NP_006822;Q92989;XP_006718488 Hs.523687 1683138;2148140 RH70702;RH80129 HEAB;PCH10;hClp1 ATP/GTP-binding protein;CLP1, cleavage and polyadenylation factor I subunit, homolog;OTTHUMP00000235349;OTTHUMP00000235351;OTTHUMP00000235352;homolog of yeast CFIA subunit Clp1p;polyadenylation factor Clp1;polynucleotide kinase Clp1;polyribonucleotide 5'-hydroxyl-kinase Clp1;pre-mRNA cleavage complex II protein Clp1 APPROVED protein-coding ENSG00000172409 HGNC:16999 16382 608757;615803 REVIEWED 1348034 CLOCK clock circadian regulator The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 4 4 4 q12 53800517 53915033 - 56294068 56413076 - 55427901 55546909 - 1580863;6480464 10198158;10864977;10973243;11018023;11337377;11439184;11441146;11511917;11927136;11927173;12464098;12477932;12841365;12897057;12898572;14582141;14645221;14701732;14701734;14702039;14750904;15331141;15475734;15489334;15572273;15578592;15905809;15917222;15952199;16024980;16125818;16232160;16344560;16474406;16528748;16678094;17106427;17116390;17221848;17239050;17264841;17364575;17428266;17469042;17516548;17551301;17696255;17701674;17848551;17948273;17994337;18029348;18071340;18228528;18283403;18314271;18379422;18411297;18419323;18430226;18458078;18541547;18587630;18662547;18854154;18957941;18974966;19224106;19296127;19328558;19347611;19470168;19505873;19605937;19693801;19714310;19839995;19846548;19874574;19888304;19913121;19922678;19934327;19946213;19967263;20065968;20072116;20081528;20124474;20149345;20174623;20180986;20364331;20368993;20370469;20396431;20551151;20554694;20560707;20600471;20628086;20653450;20704703;20861012;20876123;20886252;20961464;20978934;21050724;21123577;21164265;21386998;21463335;21479263;21628555;21714069;21734043;21773969;21898035;21906983;21980503;22003994;22080789;22193177;22232930;22284746;22537959;22578325;22709985;22806005;22823872;22905804;22999556;23003921;23033538;23129285;23131019;23160374;23183326;23221812;23229515;23242607;23357097;23395176;23496259;23527142;23546644;23584858;23667531;23768840;23781009;23792158;23871470;23912676;23970287;24037774;24068320;24235147;24250222;24332565;24597447;8125298;9205841;9576906;9779516;9989497 9575 C9JK03;O15516;Q3ZCT4;Q53EU0 AB002332;AB005535;AB059556;AB061682;ABBA01003412;ABBA01003413;ABBA01003414;AC024243;AC069200;AC110372;AF011568;AF260318;AK096319;AK124437;AK223549;AK291708;AMYH02009242;AMYH02009243;BC040570;BC041878;BC126157;BC126159;BX537616;BX538337;CH471057;DA658950;EF015897;NM_001267843;NM_004898;XM_005265787;XM_006714054 AAB83969;AAF70307;AAH41878;AAI26158;AAI26160;ABM64208;ABZ92219;ADR83421;BAA20792;BAA21774;BAB88852;BAB92020;BAD97269;BAF84397;EAX05468;NP_001254772;NP_004889;O15516;XP_005265844;XP_006714117 Hs.436975;Hs.689578 1643666;1662234;1662442;1712200;1716243;1752123;2118289;2154480;5023545 G16718;G54151;PMC55343P8;RH121148;SHGC-106039;SHGC-50712;SHGC-59220;SHGC-67841;STS-R80639 KAT13D;KIAA0334;bHLHe8 OTTHUMP00000128334;OTTHUMP00000196798;OTTHUMP00000218844;circadian locomoter output cycles kaput protein;circadian locomoter output cycles protein kaput;class E basic helix-loop-helix protein 8;clock homolog APPROVED protein-coding ENSG00000134852 HGNC:2082 03508 601851 REVIEWED 1343928 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 6300249 6307702 + 6361463 6368915 + 6361452 6368904 + 1580863;6480464;7240710;8554872;8699517 10525407;11923310;12477932;15489334;15522782;16115876;18029348;18378094;20877624;21906983;21963094;23360988;23541340;24583282;25254289;8543061;9512494 8192 M0QXE9;M0QYV5;M0R208;Q16740 ABBA01055961;ABBA01055962;ABBA01055963;AC011491;AK311973;AMYH02035351;BC002956;BF339807;CH471139;EF036491;NG_033887;NM_006012;Z50853 AAH02956;ABM86749;ABO65077;ABW03819;BAG34912;CAA90705;EAW69103;NP_006003;Q16740 Hs.515092 1773792 SHGC-31644 PRLTS3 ATP-dependent Clp protease proteolytic subunit, mitochondrial;ATP-dependent protease ClpAP, proteolytic subunit, human;ClpP caseinolytic peptidase ATP-dependent, proteolytic subunit;ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog;ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog;clpp caseinolytic protease, atp-dependent, proteolytic subunit homolog (e. coli);endopeptidase Clp;putative ATP-dependent Clp protease proteolytic subunit, mitochondrial APPROVED protein-coding ENSG00000125656 HGNC:2084 03074 601119;614129 REVIEWED 1605196 CLPSL2 colipase-like 2 ENCODES a protein that exhibits enzyme activator activity (inferred); INVOLVED IN digestion (inferred); lipid catabolic process (inferred); positive regulation of catalytic activity (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 3-methylcholanthrene 6 6 6 p21.31 37298966 37301904 + 35744343 35747329 + 35776594 35779552 + 6480464 12975309;15340161 389383 Q6UWE3 AA861820;ABBA01038242;AL157823;AMYH02013544;AW665167;AY358823;CD513822;CH471081;NM_001286550;NM_207409;NR_104467;NR_104469 AAI72344;AAQ89182;EAX03847;EAX03848;NP_001273479;NP_997292;Q6UWE3 Hs.259563 AAAL3045;C6orf126;UNQ3045;dJ510O8.5 OTTHUMP00000016272;OTTHUMP00000198205;colipase-like protein 2;colipase-like protein C6orf126;hypothetical protein LOC389383 APPROVED protein-coding ENSG00000196748 HGNC:21250 15616 VALIDATED 1322154 CLPTM1 cleft lip and palate associated transmembrane protein 1 INVOLVED IN regulation of T cell differentiation in thymus (ortholog); FOUND IN membrane; external side of plasma membrane (ortholog); INTERACTS WITH 17beta-estradiol; 2,3-dimethoxynaphthalene-1,4-dione; antimony(0) 19 19 19 q13.3 42262951 42300913 + 45457842 45496604 + 44954585 44993346 + 6480464 12477932;14702039;15489334;16102578;16122939;16247549;16263699;16303743;16344560;19460752;19773279;19913121;19937600;19946888;20572854;20628086;20634891;20672350;21139048;21890473;21903422;21906983;21963094;22939629;23000965;8125298;8889548;9218588;9828125 1209 K7EJ16;K7EKQ7;K7EQQ1;K7ERL5;O96005 ABBA01040899;AC011481;AF037338;AF037339;AK027698;AK074935;AK075262;AK223553;AK293314;AK304480;AK310826;AK316094;AMYH02036185;AMYH02036186;BC004865;BC012359;BI916245;BM676309;BQ574654;BT007262;CH471126;CQ834666;CQ834668;DB033341;DC313765;DC383798;HY033360;KF510456;NM_001282175;NM_001282176;NM_001294 AAC97420;AAC98151;AAH04865;AAH12359;AAP35926;ABM83162;ABM86362;BAD97273;BAG52034;BAG56834;BAG65291;BAH14465;CAH05548;CAH05549;EAW57314;EAW57315;NP_001269104;NP_001269105;NP_001285;O96005 Hs.444441 1647587;1678337;1711264;2129344 G18054;RH47704;RH91487;SHGC-89260 cleft lip and palate transmembrane protein 1 protein-coding ENSG00000104853 HGNC:2087 604783 VALIDATED 731315 CLPB ClpB caseinolytic peptidase B homolog (E. coli) ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN cellular response to heat; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; copper(2+) sulfate 11 11 11 q13.4 69304879 69446914 - 72003469 72145724 - 72292425 72434680 - 6480464;8554872 11230166;12477932;12927788;14702039;15231748;15489334;18488042;19060904;19615732;19698713;20811636;20877624;21145461;23752268;24816145;25036637;2745427;7835694 81570 B4DXW4;F5GX99;F5H392;F5H7A5;H0YFF5;H0YG50;H0YGM0;Q7Z777;Q9H078;S4R372 ABBA01017537;ABBA01017538;AK023214;AK302006;AK302069;AK302158;AL136909;AL834484;AMYH02025075;AP000593;AP002892;AP003785;BC006257;BC006404;BU848809;CH471076;DC396265;NM_001258392;NM_001258393;NM_001258394;NM_030813;XM_005274320 AAH06257;AAH06404;ABW03573;ABW03886;BAB14467;BAG63409;BAG63459;BAG63526;CAB66843;CAD39142;EAW74858;EAW74859;EAW74860;NP_001245321;NP_001245322;NP_001245323;NP_110440;Q9H078;XP_005274377 Hs.523877 1701478;1706192;1738199;1761245;1782260;1787812;2123652;2135374;2168214;2191753;5105383;7186071 A008U48;D11S3830;D11S490;MARC_6997-6998:996689895:1;RH104371;SHGC-111311;SHGC-112018;SHGC-145253;SHGC-173269;SHGC-57720;SHGC-80623;STS-Z40910 FLJ13152;HSP78;SKD3 OTTHUMP00000237215;OTTHUMP00000237216;OTTHUMP00000237217;OTTHUMP00000237218;OTTHUMP00000237219;OTTHUMP00000237221;caseinolytic peptidase B protein homolog;suppressor of potassium transport defect 3 protein-coding ENSG00000162129 HGNC:30664 11560 VALIDATED 731525 CLPS colipase, pancreatic The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 6 6 6 p21.31 37317347 37319689 - 35762759 35765121 - 35794982 35797344 - 1580863;2314627;2314624;2314626;6480464 16189801;18726866;19577003 10570245;10769148;11099794;11278590;12477932;12598038;1522902;15287741;15342556;15489334;15583024;1643046;17715423;18051367;20054203;2045105;23204298;2337598;23918603;6691986;8479519;9240923 1208 P04118 ABBA01038242;AL157823;AMYH02013545;AY780648;AY780649;BC007061;BC017897;BC025693;BC043489;BI439786;BP321569;BP322637;BP324927;BQ271978;BT006812;CH471081;J02883;M95529;NM_001252597;NM_001252598;NM_001832 AAA52054;AAB05818;AAH07061;AAH17897;AAP35458;AAV35728;AAV35729;ADZ15980;EAX03850;EAX03851;NP_001239526;NP_001239527;NP_001823;P04118 Hs.1340 1768955;2137912;2141519 D6S2063;D6S2128;RH46790 OTTHUMP00000016271;colipase;pancreatic colipase preproprotein APPROVED protein-coding ENSG00000137392 HGNC:2085 00356 120105 REVIEWED 1605932 CLPTM1L CLPTM1-like INVOLVED IN apoptotic process (inferred); FOUND IN membrane; INTERACTS WITH arsenite(3-); camptothecin; cisplatin 5 5 5 p15.33 1354853 1381719 - 1317869 1345180 - 1317755 1345065 - 6480464 11162647;12477932;14702039;18978787;18978790;19151717;19204726;19369581;19578363;19654303;19836008;19946888;19955392;20101243;20543847;20548021;20562859;20570912;20700438;20802237;20972438;21081471;21139048;21160077;21332924;21617256;21622582;21771723;21890473;21903422;21906983;21963094;21983787;21987572;21988832;21993562;22037553;22134622;22213090;22370939;22675468;22893025;22939629;23000965;23137523;23226346;23300716;23359026;23368278;23433592;23555636;23653681;23666240;23707794;23738012;23908149;24163127;24250222;24292274;24366883;24386361;24403052;24535780;24577890;24648346;24816145 81037 G5E9Z2;Q96KA5 AB045223;ABBA01034205;AC026748;AC114291;AK027306;AK057095;AK128462;AL137440;AL832953;AMYH02010764;BC016399;BC025305;BC040705;CH471102;CQ834660;NM_030782;XM_006714502 AAH16399;AAH25305;ABM83073;ABM86269;BAB20083;BAB55030;BAG54680;CAH05545;CAH56333;EAX08161;EAX08162;EAX08163;EAX08164;NP_110409;Q96KA5;XP_006714565 Hs.444673 1339692;1650786;1687644;5020726 D5S2005;RH16364;RH44324;STS-AA037508 CRR9;CRR9p;DKFZp666M1010;DKFZp761M2324;FLJ14400;FLJ32533 CLPTM1-like protein;OTTHUMP00000161634;OTTHUMP00000220655;cisplatin resistance related protein CRR9p;cisplatin resistance-related protein 9;cleft lip and palate transmembrane protein 1-like protein protein-coding ENSG00000049656 HGNC:24308 07480 612585 PROVISIONAL 1351955 CLS Coffin-Lowry syndrome 1210 HGNC:2089 1604478 CLPSL1 colipase-like 1 ENCODES a protein that exhibits enzyme activator activity (inferred); INVOLVED IN digestion (inferred); lipid catabolic process (inferred); positive regulation of catalytic activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog); bezafibrate (ortholog) 6 6 6 p21.31 37303406 37310419 + 35748831 35755841 + 35781054 35788064 + 6480464;8554872 12477932;16344560;18390568 340204 A2RUU4;Q5T9G0 ABBA01038242;AI018488;AL157823;AMYH02013544;AMYH02013545;BC133046;BC137392;BC150543;BC150544;BX106742;CH471081;DQ823638;NM_001010886 A2RUU4;AAI33047;AAI37393;AAI50544;AAI50545;ABK41022;EAX03849;NP_001010886 Hs.131296 C6orf127;ESP32;dJ510O8.6 OTTHUMP00000016273;colipase B-like;colipase-like protein 1;colipase-like protein C6orf127;hypothetical protein LOC340204 APPROVED protein-coding HGNC:21251 17356 PROVISIONAL 2291757 CLRN2 clarin 2 This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008] 4 4 4 p15.32 17981782 17993722 + 17516788 17528727 + 17515165 17527104 + 8554872 12080385;12477932;15489334 645104 A0PK11 ABBA01032608;AC093600;AMYH02008822;BC127863;NM_001079827 A0PK11;AAI27864;NP_001073296 Hs.631526 OTTHUMP00000225137;Usher syndrome 3A-like;clarin-2 APPROVED protein-coding ENSG00000249581 HGNC:33939 REVIEWED 1603592 CLRN1-AS1 CLRN1 antisense RNA 1 3 3 3 q25.1 149103342 149210433 + 150690465 150797617 + 150972678 151079830 + 11524702;14702039;20717163;23382691 116933 ABBA01058914;ABBA01058915;ABBA01058916;ABBA01058917;AC020636;AC108726;AF388367;AK126442;AMYH02007894;HG496188;HG496189;NR_024066 Hs.570680 1339775;1665452;1729367;1729411;5015619;5037552;7186204 D11S3114;D3S1315;D8S2279;G54345;G54372;WI-17533 CLRN1OS;UCRP APPROVED pseudo ENSG00000239265 HGNC:30895 PROVISIONAL 1603923 CLRN3 clarin 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; aflatoxin B1; cyclosporin A 10 10 10 q26.2 123347587 123362681 - 129676114 129691211 - 127877850 127892947 - 6480464;8554872 12080385;12145752;12477932;15164054;15489334;16341674;16385451;17207965;19056867;20379614;22658654 119467 Q8NCR9 ABBA01009091;AL158166;AMYH02024021;BC029478;BM830163;BX640823;CH471066;NM_152311 AAH29478;ADQ32266;CAE45899;EAW49191;EAW49192;NP_689524;Q8NCR9 Hs.242014 1697186;1703486;1704540 RH102083;SHGC-82601;SHGC-83074 DKFZp686F11218;MGC32871;TMEM12;USH3AL1 OTTHUMP00000020734;clarin-3;transmembrane protein 12;usher syndrome type-3A-like protein 1 protein-coding ENSG00000180745 HGNC:20795 14553 VALIDATED 1312578 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit ENCODES a protein that exhibits ATP-dependent peptidase activity; ATPase activity; peptidase activator activity; INVOLVED IN ATP catabolic process; positive regulation of peptidase activity; proteolysis involved in cellular protein catabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN endopeptidase Clp complex; mitochondrial endopeptidase Clp complex; mitochondrial matrix; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; isotretinoin 15 15 15 q22.31 42320894 42355668 - 65442784 65477563 - 65150446 65185404 - 1580863;6480464;8554872 10347188;10525407;11003706;11230166;11923310;12477932;16115876;17353931;18029348;18063578;18313382;18457437;19380743;19615732;20186120;20360068;20877624;21145461;22268729;22710082;22841477;22904065;24244333;24250222;24457600;24816145 10845 H0YK07;H0YM48;O76031 ABBA01038860;ABBA01038861;AC013553;AC068213;AJ006267;AJ276980;AK292316;AK308133;AK310614;AL136922;AMYH02030621;BC130373;BC136487;BC144166;CH471082;NM_006660;XR_429441 AAI30374;AAI36488;BAF85005;CAA06933;CAB66856;CAC01291;EAW77715;EAW77716;NP_006651;O76031 Hs.113823 1856597;2110323;2122653;2126612;2127115;2151467;5093490 A004Z39;A009P37;CLPX__4590;G32749;RH77817;RH78776;STS-H79322 ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial;ClpX caseinolytic peptidase X homolog;ClpX caseinolytic protease X homolog;OTTHUMP00000164179;clpx caseinolytic protease x homolog (e. coli);energy-dependent regulator of proteolysis APPROVED protein-coding HGNC:2088 07478 615611 PROVISIONAL 1350123 CLSTN2 calsyntenin 2 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN homophilic cell adhesion via plasma membrane adhesion molecules (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH fonofos; parathion; terbufos 3 3 3 q23 138076932 138710571 + 139654027 140286919 + 139935185 140568077 + 1580863;6480464;8554872 12477932;12498782;12972431;14702039;15037614;15489334;18519826;19058786;19174780;19422935;19606085;19804789;20379614;20691427;21643791;21658281;22589738;23049088;23472185;24204828 64084 Q9H4D0 ABBA01059056;ABBA01059057;ABBA01059058;ABBA01059059;ABBA01059060;ABBA01059061;AC010181;AC048346;AC092988;AC108744;AC117390;AC117396;AC117449;AC247055;AJ278018;AK056411;AK096432;AK096818;AK315308;AMYH02007793;AMYH02007794;AMYH02007795;AY753303;BC004871;BC007943;BC103496;BC103506;BC104485;CH471052;NM_022131 AAH04871;AAH07943;AAI03497;AAI03507;AAI04486;AAV30553;BAG37712;BAG51700;BAG53289;BAG53367;CAC14924;EAW79016;EAW79017;EAW79018;NP_071414;Q9H4D0 Hs.158529 1654243;1655207;1687067;1705170;1708852;1717817;1717907;1725417;1747777;1764013;1780148;2117284;2122094;2142559;2174708;5123921 A008B10;D3S3366;D3S3394;G66792;RH119104;RH121819;RH122827;RH25530;RH47922;RH47981;SHGC-147671;SHGC-154475;SHGC-24365;SHGC-80030;SHGC-83921;WI-14298 ALC-GAMMA;CDHR13;CS2;CSTN2;FLJ39113;FLJ39499;MGC119560 OTTHUMP00000217652;alcadein gamma;alcadein-gamma;alcagamma;cadherin-related family member 13;calsyntenin-2 protein-coding ENSG00000158258 HGNC:17448 13077 611323 VALIDATED 1319224 CLSPN claspin The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 1 1 1 p34.2 34472173 34510013 - 36185819 36235568 - 35732112 35769950 - 1580863;6480464;8554872 11090622;12477932;12766152;12791985;15096610;15190204;15226314;15279790;15489334;15707391;16123041;16501606;16710414;16828751;16880517;16885021;16885022;16885023;16901786;16934469;16951182;16963448;17081983;17102137;17274954;17431426;18077083;18084324;18331829;18353973;18451105;18662541;18922873;19124652;19270516;19471022;19477924;19737971;19828454;20029092;20081369;20233725;20424596;20657549;20930849;21139048;21478680;21502314;21693764;21775519;21906983;21945441;22017875;22731782;22732499;22863316;23109433;23383325;23443559;24632611 63967 E7ESG2;Q9HAW4 ABBA01023334;AF297866;AK308193;AL354864;AMYH02000770;BC018670;BC038991;BC062215;BC113116;BC115023;BC115024;BC115025;BC115026;BC115027;BC137279;BC140789;BG109920;CH471059;NM_001190481;NM_022111 AAG24515;AAH18670;AAH38991;AAH62215;AAI13117;AAI15026;AAI15027;AAI37280;AAI40790;EAX07401;EAX07402;NP_001177410;NP_071394;Q9HAW4 Hs.175613 1341396;1683587;2127923;5017227;5019070;5020885;5020946;5021228;5022578;5024761;5037552 D11S1910;D1S1423;D8S2279;G38154;G44334;GDB:312794;L17791;L17971;RH36905;RH91339;SHGC-37119 MGC131612;MGC131613;MGC131615 OTTHUMP00000004343;OTTHUMP00000226108;OTTHUMP00000226109;OTTHUMP00000226220;claspin homolog;hClaspin APPROVED protein-coding HGNC:19715 09257 605434 REVIEWED 737108 CLRN1 clarin 1 This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q25 149056900 149103663 - 150643950 150690786 - 150926163 150972999 - 634439;1580863;6480464;7240710;8547535;8554872;8699517 12145752;23701314 10364543;10704288;11524702;12080385;12477932;14569126;15489334;15521980;15650299;18281613;18484607;19423712;19683999;19753315;20301590;20717163;21310491;21675857;22681893;22787034;22964989;23304067;24618850;7711740;8889548;8975700 7401 C9JWF3;C9JYI2;P58418 ABBA01058917;ABBA01058918;AC020636;AF388366;AF388368;AF482697;AF495717;AMYH02007892;AMYH02007893;AMYH02007894;BC074970;BC074971;BM666773;CH471052;HM626132;HM626133;HM626134;HM626135;HM626136;NG_009168;NM_001195794;NM_001256819;NM_052995;NM_174878;NR_046380 AAH74970;AAH74971;AAL09581;AAL09582;AAM88774;AAN07148;ADM63096;ADM63097;ADM63098;ADM63099;ADM63100;EAW78814;EAW78815;EAW78816;NP_001182723;NP_001243748;NP_443721;NP_777367;P58418 Hs.745448 1794612;1794614;1794616;1794618;1794620;2107755 PMC328092P3;PMC328092P4;PMC328092P5;PMC328092P6;PMC328092P7;USH3A__5035 RP61;USH3;USH3A OTTHUMP00000179117;OTTHUMP00000214792;OTTHUMP00000216724;Usher syndrome type-3 protein;clarin-1;usher syndrome type iii a APPROVED protein-coding ENSG00000163646 HGNC:12605 05905 276902;606397;614180 REVIEWED 1315087 CLSTN1 calsyntenin 1 ENCODES a protein that exhibits beta-amyloid binding; kinesin binding; X11-like protein binding; INVOLVED IN cell adhesion (inferred); homophilic cell adhesion via plasma membrane adhesion molecules (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2-methylcholine; afimoxifene 1 1 1 p36.22 8900350 8996174 - 9789079 9884550 - 9729021 9824492 - 1580863;6480464;8554872 10048485;11161476;12421765;12477932;12972431;14702039;15037614;15146195;16710414;16712791;16760430;17332754;20195357;21385839;21555518;21906983;22434822;22571980;24623842;8125298 22883 B3KMD3;B4E3Q1;O94985;Q5SR54 AB020718;ABBA01035567;ABBA01035568;ABBA01035569;ABBA01035570;AF438482;AK000605;AK001591;AK056820;AK225500;AK289798;AK304813;AL357140;AL691449;AMYH02000254;AMYH02000255;AMYH02000256;AY545556;AY753301;BC033902;CB132727;CH471130;NM_001009566;NM_014944;XM_005263432 AAH33902;AAQ04552;AAV30551;ABM82189;ABM85376;BAA74934;BAF82487;BAG50945;BAG51814;BAG65563;EAW71629;EAW71630;NP_001009566;NP_055759;O94985;XP_005263489 Hs.29665 1664765;1667890;1672123;1672125;1733148;1733480;1767855;2113206;2120973;2142598;2147876;2170324;2178392;5091962 A006Z42;D17S1247;D1S1458;D1S3706;IB3691;NIB2114;RH11792;RH15907;RH50479;RH63840;SHGC-16182;SHGC-74173;WI-16255;WI-16324 ALC-ALPHA;CDHR12;CSTN1;FLJ32258;KIAA0911;PIK3CD;XB31alpha;alcalpha1;alcalpha2 OTTHUMP00000001597;OTTHUMP00000001598;OTTHUMP00000001599;alcadein alpha 1;alcadein-alpha;alzheimer-related cadherin-like protein;cadherin-related family member 12;calsyntenin-1;non-classical cadherin XB31alpha;non-classical cadherin XB31alpha1 protein-coding ENSG00000171603 HGNC:17447 10837 611321 VALIDATED 732033 CLSTN3 calsyntenin 3 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN homophilic cell adhesion via plasma membrane adhesion molecules (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene 12 12 12 p13.31 8859131 8887704 + 7281681 7311541 + 7130371 7158945 + 1580863;6480464 12477932;12498782;12972431;15037614;15489334;16344560;23499467;9872452 9746 F5H172;F5H5C6;F5H5D7;F5H746;F5H7C7;Q9BQT9 AA864252;AB018269;ABBA01012197;AC018653;AJ277460;AK299177;AK299246;AK316059;AMYH02025964;AY753302;BC039075;BC104767;BC111491;BC112283;BC148258;CH471116;DA092023;KF455598;NM_014718;XM_006719163 AAH39075;AAI04768;AAI11492;AAI12284;AAI48259;AAV30552;BAA34446;BAG61223;BAG61277;BAH14430;CAC33084;EAW88676;EAW88677;EAW88678;EAW88679;EAW88680;NP_055533;Q9BQT9;XP_006719226 Hs.535378 1700390;1733602 D12S931;RH103815 CDHR14;CSTN3;KIAA0726;MGC131797;MGC138488;alcbeta OTTHUMP00000238166;OTTHUMP00000238167;alc-beta;alcadein beta;alcadein-beta;cadherin-related family member 14;calsyntenin-3 protein-coding ENSG00000139182 HGNC:18371 16725 611324 VALIDATED 5133104 CLTC-IT1 CLTC intronic transcript 1 (non-protein coding) 17 q23.2 57707431 57709346 + 100506863 AC091271;AF090926;CH471109;XR_158918;XR_159290;XR_172216 AAF24041;EAW94401 Hs.676463 PRO0456 ncrna 733774 CLTA clathrin, light chain A Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, May 2010] 9 9 9 p13 36124438 36145644 + 36190853 36212059 + 36190856 36212062 + 1580863;1300048;6480464;6484113;6907045 10567358;11031247;11157096;11252894;11889126;12057195;12426379;12477932;12589051;12692238;15164053;15489334;15533940;16138905;16799092;17110338;17140399;17213182;17581864;17620599;18165318;18548008;18602423;18854154;18977142;19144635;19615732;19738201;1975516;19913121;19946888;20012528;20562859;20628086;21139048;21145461;21152103;21203429;21289110;21611203;21704113;21738476;21890473;21900206;21988832;2204686;2211724;22505724;22623428;23000965;23304142;23398456;23460120;2406259;24816145;3267234;4066749;7713494;8125298;8413590;9314527;9651214 1211 C9J8P9;F8WF69;P09496;S4R3F6 ABBA01050433;ABBA01050434;AK225153;AK291078;AK295692;AL158830;AMYH02019472;BC009201;BC019287;BI090227;BM423666;BT007170;CA306784;CH471071;DQ270158;DT220470;M20471;M20472;NM_001076677;NM_001184760;NM_001184761;NM_001184762;NM_001833;NM_007096 AAA51817;AAA59505;AAH09201;AAH19287;AAP35834;ABB76683;BAF83767;BAG58543;EAW58310;EAW58311;EAW58312;NP_001070145;NP_001171689;NP_001171690;NP_001171691;NP_001824;NP_009027;P09496 Hs.522114 1676906;1680605;1694692;1747097;2143116;2169008 AV026556;G43533;RH67858;RH74929;RH79677;STS-M20471 LCA OTTHUMP00000021365;OTTHUMP00000021366;OTTHUMP00000215626;OTTHUMP00000215627;OTTHUMP00000215628;clathrin light chain A;clathrin, light polypeptide (Lca) APPROVED protein-coding ENSG00000122705 HGNC:2090 00351 118960 REVIEWED 7325225 CLSTN2-AS1 CLSTN2 antisense RNA 1 3 3 q23 140224460 140227643 - 140505618 140508789 - 101927808 ABBA01059056;AC048346;AL133103;AMYH02007794;NR_108084 Hs.581236 ncrna ENSG00000250433 HGNC:49095 VALIDATED 733395 CLTB clathrin, light chain B Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 5 5 5 q35 172658136 172682645 + 175819456 175843570 - 176392455 176416569 - 1580863;6480464;6484113;6907045 10360576;11889126;1189126;12426379;12477932;12589051;15146197;15489334;15533940;16138905;16169070;16341674;17140399;17581864;17620599;18602423;18977142;19034380;19738201;19913121;20012528;20628086;21139048;21289110;21704113;21738476;2204686;2211724;22505724;23000965;23251661;23304142;23398456;24583282;24816145;2874131;3128543;3267234;7713494;7836475;9314527 1212 B4DTF9;D6RJD1;H0Y9Q6;P09497 ABBA01033499;ABBA01033500;AC138956;AK300200;AMYH02012812;BC006332;BC006457;BM761740;BT007028;CH471195;CN409237;CR536577;M20469;M20470;NM_001834;NM_007097;NR_045724;XM_006714818 AAA51818;AAA59506;AAH06332;AAH06457;AAP35675;BAG61971;CAG38814;EAW85077;EAW85078;EAW85079;EAW85080;NP_001825;NP_009028;P09497;XP_006714881 Hs.484241 1676208;1712210;2167098;2167361;2218388 CLTB_4592;G54012;RH69093;RH98811;WI-7674 LCB OTTHUMP00000161245;OTTHUMP00000161246;clathrin light chain B;clathrin, light chain (Lcb);clathrin, light polypeptide (Lcb) APPROVED protein-coding ENSG00000175416 HGNC:2091 00352 118970 REVIEWED 3516302 CLUHP1 clustered mitochondria (cluA/CLU1) homolog pseudogene 1 Y Y 19735743 19736304 - 17623863 17624424 - 100418708 AC007742;NG_004636 KIAA0664P1 APPROVED pseudo HGNC:38416 VALIDATED 1354421 CLUAP1 clusterin associated protein 1 The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 16 16 16 p13.3 3757743 3794429 + 3550945 3589048 + 3500945 3539048 + 1580863;6480464 12477932;14702039;15480429;15489334;16189514;16344560;17203229;19253336;19322201;21832049;21906983;22118674;8889549;9734811 23059 B4DFY1;I3L0L1;I3L121;I3L1J4;I3L257;I3L2E1;I3L3S9;I3L455;I3L487;J3KNW5;Q96AJ1 AB014543;AB089691;ABBA01026740;AC004224;AC004494;AK023319;AK023359;AK294318;AMYH02031292;AMYH02031293;BC017070;BQ446386;CH471112;DA502615;NM_015041;NM_024793;T49451;XM_006720867 AAH17070;BAA31618;BAB14523;BAB14542;BAD44779;BAG57592;EAW85352;EAW85353;EAW85354;NP_055856;NP_079069;Q96AJ1;XP_006720930 Hs.155995 1778981;1852800;5020740;5024413;5118576 D11S3430;L17809;L17877;SHGC-60726;SHGC-61133 CFAP22;FAP22;FLJ13297;KIAA0643 cilia and flagella associated protein 22;clusterin-associated protein 1;flagellar associated protein 22, qilin-like protein, homolog;qilin APPROVED protein-coding ENSG00000103351 HGNC:19009 10013 REVIEWED 2298812 CLUHP3 clustered mitochondria (cluA/CLU1) homolog pseudogene 3 INTERACTS WITH (+)-catechin; copper(2+) sulfate 16 16 16 p11.2 28590049 28596873 - 31711934 31718758 + 31700613 31707437 + 6480464 11181995;12477932;14702039;15489334 100132341 Q96NS8 ABBA01042102;AC074050;AK054698;AMYH02031856;BC000552;BC021555;CH471192;NR_024034 BAB70796;EAW52111;EAW52112;EAW52113;EAW52114;EAW52115;Q96NS8 Hs.715792 2110565 MGC3020__7702 C16orf67;FLJ30136;KIAA0664;KIAA0664L3;KIAA0664P3;MGC3020;MGC31812 APPROVED ncrna ENSG00000131797 HGNC:28447 PREDICTED 4109590 CLUHP2 clustered mitochondria (cluA/CLU1) homolog pseudogene 2 Y Y 20443470 20444031 + 18281584 18282145 + 9847074 100418709 AC007241;NG_004636 KIAA0664P2 APPROVED pseudo HGNC:38453 VALIDATED 3516301 CLUHP4 clustered mitochondria (cluA/CLU1) homolog pseudogene 4 4 4 190982234 190984151 - 190061079 190062996 - 100418711 AMYH02010728;NG_022045;U85056 1731379;7189441;7189449 D4F104S1 KIAA0664P4 APPROVED pseudo HGNC:38470 INFERRED 68978 CLU clusterin The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011] 8 8 8 p21-p12 26414541 26432416 - 27454434 27472328 - 27596917 27615031 - 1581194;727237;1581195;734787;1580863;1626306;6480464;8699502;8729187;9068388;9068391;9068396;9068427;8764690;9068392;2301196;9068431;8699512;9068394;9068390;8963167;9017974;8696021;8699505;9068393;8890679;8699513;8699506;8699507;8696020;8699504;8898558;9068424;8883512;8923490;8936706;8887372;8975365;9068411;9068422;8699516;8746700;9068409;9068410;9068419;9068421;9068435;8699503;9014708;8554872;8661808;9068414;5129542;9068395;7245501;9068412;8903235 10090169;10502582;10934144;11085517;12036968;12763621;12782389;14577867;15126350;15139011;15584350;15912881;15925890;15961700;16639006;17203891;18085470;18274700;18378577;18723004;18806885;18949565;19182256;19443575;19696405;19875648;19903339;20032585;20307318;20711835;20854280;22037783;22052058;22350181;22494435;22581811;22613415;22956607;23051594;23099883;23351716;23522962;23568601;23702390;23791361;23956692;24118288;24325231;25057782;25069740;7558712;8314591;9546356;9560017 10066740;10219089;10329371;10694874;11123922;11186422;11570883;11714447;11795992;11813210;11892985;11904161;11906815;12047389;12082621;12172907;12176985;12200037;12393179;12427144;12429802;12470829;12477932;12551933;12679903;12754519;12824284;12860995;12867999;12882985;1424805;14618611;14630798;14702039;14718574;14760718;1491011;15033782;15133840;15146195;15158456;15174051;15247015;15252304;15304052;15342556;15389725;15480429;15489334;15492264;15499376;1551440;15538973;15591223;15649646;15689620;15791650;15809754;1585460;15857407;15883054;15897157;15929184;15955107;16113678;16179938;16263699;16331665;16335952;16421571;16464517;16490286;16548883;16675913;16682745;16709604;16709934;16740002;16775601;16806233;16955214;17043677;17048076;17056579;17080454;17148459;17170699;17224269;17260971;17322305;17407782;17412999;17420006;17451556;17512083;17534116;17535098;17689225;17855704;17872975;17974975;18079682;18082619;18097679;18239862;18458059;18514801;18542050;18612545;18624398;18649357;18709641;18712185;18714397;18786636;18813793;18842294;1903064;19056867;19118032;19137541;19165232;19166932;19177010;19220628;1924317;19264665;19289586;19344414;19353783;19357365;19391138;19413638;19446882;19535339;19542874;19651157;19664600;19734902;19734903;1974459;19757199;19793084;19814590;19878569;19878770;19878774;19879420;19879421;19879422;19879423;19903745;19935703;19940549;19996109;20000738;20007348;20009887;20019877;20028970;20057494;20058210;20068069;20096688;20195357;20209083;20353268;20360068;20410100;20460622;20497247;20534741;20554627;20570404;20599866;20603455;20614220;20674675;20697030;20738160;20739100;20842452;20847305;20850846;20855565;20873220;20930273;21042904;21043527;21059989;21135756;21163940;21224044;21240462;21242307;21280673;21300948;21347408;21379329;21397462;21422520;21447104;21460841;21460853;21467232;21467285;21505792;21508640;21525168;21527247;21543606;21567405;21573492;21627779;21630085;21633299;21732348;21761117;21824521;2185274;21892414;21899841;21900379;21912625;21953030;21953454;21980627;21987172;21988832;21998749;22012253;22013110;22015308;22016805;22068036;22082661;22122982;22130675;22145905;22159129;22166956;22179788;22232000;22234156;22236192;22248099;22258514;22266332;22268729;22274961;22296908;22391565;22402018;22465014;22506010;22532874;22539578;22545109;22569264;22617144;22647452;22689054;22701550;22795969;22832520;22863883;22889670;22896337;22902018;22906254;22952074;22975582;22981431;22990118;23010347;23174100;23201481;23208459;23209684;23276503;23279642;23411014;23416242;23457489;23521156;23538443;23573206;23589125;23602568;23621580;23650005;23673647;23769013;23770713;23786771;23816822;2387851;23896217;24008723;24073260;24085287;24117116;24162737;24217652;24244428;24334140;24378367;24407433;24428970;24477687;2454950;24806679;2601725;2721499;2780565;2780570;3154963;3167096;7615015;7626703;7768901;8181474;8292612;8328966;8345200;8387101;8555189;8634259;8752142;8759347;8843912;8889548;9228033;9336835;9537999 1191 AAB25217;E5RG36;E5RGB0;E5RH61;E5RJD6;E5RJZ5;E7ERK6;E7ETB4;H0YAS8;H0YC35;H0YLK8;P10909 A21577;ABBA01005588;ABBA01005589;AF311103;AK093399;AK301324;AK313870;AMYH02017672;AMYH02017673;AY172563;AY184486;AY341244;AY513288;BC010514;BC013221;BC019588;BC029972;BF528374;BG819541;BG914262;BM682289;BM723283;BP193735;BQ181025;BQ181739;BX418836;BX459023;BX648414;DN990822;EB385800;HI179162;HI179164;J02908;L00974;M25915;M26639;M63379;M64722;M74816;NG_027845;NM_001831;NR_038335;NR_045494;X14723;XM_006716284 AAA35692;AAA36609;AAA51765;AAA60321;AAA60567;AAB06507;AAB06508;AAB25217;AAH10514;AAH19588;AAN78322;AAN87347;AAP88927;AAT08041;ABM82371;ABM85549;BAG36598;BAG52708;BAG62873;CAA01560;CAA32847;CAI45990;CBX53889;CBX53890;NP_001822;P10909;XP_006716347 Hs.436657 1690524;1794064;2140872;2159986 PMC310777P3;RH11712;RH27907;STS-J02908 AAG4;APO-J;APOJ;CLI;CLU1;CLU2;KUB1;MGC24903;NA1/NA2;SGP-2;SGP2;SP-40;TRPM-2;TRPM2 OTTHUMP00000128311;OTTHUMP00000225247;OTTHUMP00000225248;OTTHUMP00000225249;aging-associated protein 4;apolipoprotein J;complement cytolysis inhibitor;complement lysis inhibitor;complement-associated protein SP-40,40;ku70-binding protein 1;sulfated glycoprotein 2;testosterone-repressed prostate message 2 APPROVED protein-coding ENSG00000120885 HGNC:2095 01706 185430 REVIEWED 1601881 CLUH clustered mitochondria (cluA/CLU1) homolog INVOLVED IN intracellular distribution of mitochondria (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 17beta-estradiol; copper atom; copper(0) 17 17 17 p13.3 2609348 2631592 - 2592680 2615053 - 2689386 2711759 - 6480464 12421765;12477932;14702039;15302935;15489334;19913121;20628086;21139048;21890473;21906983;21963094;22053931;22586326;22863883;23000965;23862649;24816145;25027693;9734811 23277 I3L2B0;I3L318;I3L350;I3L3A3;I3L4B5;K7EIG1;O75153 AB014564;ABBA01054719;AC005696;AK023003;AK074252;AK125717;AK308854;AMYH02032783;AW291521;BC004266;BC033614;BC063786;BX648864;CH471108;CR627449;NM_015229;XM_005256565;XM_005256567;XM_005256568;XM_006721491;XM_006721492 AAH04266;AAH33614;AAH63786;AAI56058;AAI56941;BAA31639;CAH10532;EAW90532;EAW90533;EAW90534;NP_056044;O75153;XP_005256622;XP_005256624;XP_005256625;XP_006721554;XP_006721555 Hs.22616 5015961 D15S1477 CLU1;DKFZp686L05242;DKFZp686M09233;FLJ23672;KIAA0664 clustered mitochondria protein homolog;hypothetical protein LOC23277 APPROVED protein-coding ENSG00000132361 HGNC:29094 10014 VALIDATED 1350184 CLTCL1 clathrin, heavy chain-like 1 This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 22 22 22 q11.21 3018966 3131350 - 19166986 19279247 - 19179473 19291723 - 1580863;6480464;6907045 10436022;10737800;12477932;14702039;15133132;15146197;15342556;15790807;15998911;16799092;17081983;17110338;19478182;19509056;19805454;19946888;20065094;20379614;21139048;21145461;21182205;21890473;21906983;21963094;22053931;22360420;22505724;22891263;22916037;22963397;23000965;23443559;24457600;24639526;24816145;8733128;8733129;8776594;8844170 8218 F5H5N6;H0Y529;H0YGJ9;P53675 ABBA01005420;ABBA01005421;AC000072;AC000081;AC000085;AC000094;AC004463;AK125929;AK294147;AK295264;AK302506;AMYH02038036;AMYH02038037;AMYH02038038;AY927418;BC113030;BC143977;BC143979;BF893495;BP281338;CH471176;CN428107;L77568;L77569;NG_033805;NM_001835;NM_007098;U41763;U60802;X95486;X95487;XM_005261281;XM_005277800;XM_005277801;XM_006724326;XM_006724327;XM_006724328 AAB40908;AAC50494;AAI13031;AAI66681;BAH11683;BAH12020;BAH13731;CAA64752;CAA64753;EAX03046;EAX03047;NP_001826;NP_009029;P53675;XP_005261338;XP_005277857;XP_005277858;XP_006724389;XP_006724390;XP_006724391 Hs.368266 1684006;1788436;1789296;2112176;2112190;2112444;2112506;5037542;5037620;5037622 D22S1567;D22S1574;D22S1576;D22S1610;D22S1612;D22S1646;D22S1669;D22S976E;G67876;fc90a05.y1 CHC22;CLH-22;CLH22;CLTCL;CLTD;FLJ36032 Clathrin, heavy polypeptide D;OTTHUMP00000238085;OTTHUMP00000238087;OTTHUMP00000238088;clathrin heavy chain 2;clathrin heavy chain on chromosome 22;clathrin, heavy polypeptide-like 1 APPROVED protein-coding ENSG00000070371 HGNC:2093 03172 601273 REVIEWED 3516295 CLUHP5 clustered mitochondria (cluA/CLU1) homolog pseudogene 5 10 10 135473783 135475703 - 133660279 133662199 - 100418745 AL845259;AMYH02024096;NG_022159 1731379;7189441;7189449 D4F104S1 KIAA0664P5 APPROVED pseudo HGNC:38471 INFERRED 732795 CLTC clathrin, heavy chain (Hc) Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008] 17 17 17 q23.1 54160824 54238068 + 57697050 57774317 + 59619689 59696956 + 1580863;1300048;6480464;6484113;6907045 10097102;10330411;10336464;10360576;10436022;10477727;10567358;10692452;10748223;10862698;11031247;11157096;11252894;11278436;11301005;11387476;11423532;11447109;11451993;11470803;11517213;11532964;11532990;11604514;11799118;11877451;11889126;11964161;12057195;12105200;12202484;12221107;12237126;12426379;12429846;12477932;12519789;12538641;12589051;12665801;12732633;12952941;12952949;12960147;14563850;14596919;14702039;14985334;15067034;15133132;15161933;15302935;15324660;15383276;15489334;15533940;15657082;15858577;1587861;1589293;15917292;16009940;16027165;16138905;16169070;16196087;16210410;16314522;16344560;16412388;16431367;16618797;16709866;16716190;16903783;17052248;17081065;17140399;17220478;17255364;17267500;17307723;17344219;17353931;17400507;17461779;17500595;17506864;17550971;17581864;17620599;1765375;17666399;17785434;17952123;18042253;18363968;18457437;18548008;18602423;18614564;18656476;18781797;18977142;19135240;19289168;19380743;19478182;19509056;19529763;19581412;19596686;19654208;19722700;19738201;19765186;19766654;19793827;19798056;19805454;19859085;19913121;20360068;20448150;20498856;20562859;20566684;20628086;20639872;20936779;21081666;21139048;21145461;21182205;21252943;21289110;21291504;21297582;21319273;21362119;21364927;21382013;2154445;21704113;21738476;21853274;21890473;21906983;21917865;21956701;21963094;21965600;21987572;21988832;22010197;22053931;22108332;22178446;22268729;22321011;22323290;22335553;22496312;22505724;22536838;22558309;22586326;22623428;22707565;22820750;22891263;22935703;22939629;22963397;22980331;22990118;23000965;23077236;23080069;23125841;23184937;23222715;23228632;23236378;23246001;23304142;23398456;23402259;23861900;23874206;23874603;23940042;2406259;24211445;24332808;24390425;24407285;24457600;24583282;24591637;24639526;24654937;24816145;25015289;25027693;4066749;6147350;7584026;7584028;8276759;8733129;9169477;9195986;9233772;9280305;9314527;9545220;9603201;9827808 1213 J3KRF5;J3KS13;J3KSQ2;J3KTN1;J3QL20;K7EJJ5;Q00610 AB073891;ABBA01003169;ABBA01003170;ABBA01003171;AC091271;AC244499;AK127134;AMYH02033719;AMYH02033720;BC015854;BC036430;BC051800;BC054489;BX473803;BX640615;CH471109;D21260;DA248028;NM_001288653;NM_004859;X55878;XM_005257012 AAH36430;AAH51800;AAH54489;BAA04801;CAA39363;CAE45761;EAW94395;EAW94396;EAW94397;EAW94398;EAW94399;NP_001275582;NP_004850;Q00610;XP_005257069 Hs.491351 1650588;1658247;1688656;1691774;1693436;1693846;1706730;1738973;1771278;1848787;1849529;2171554;2175576;2179252;5491561 D17S1600;D17S2052;G42242;G42377;G42611;MARC_20665-20666:1025269998:3;RH11769;RH25272;RH46414;RH81083;SGC30655;SHGC-36454;SHGC-80819;WI-18090;WI-19130 CHC;CHC17;CLH-17;CLTCL2;Hc;KIAA0034 OTTHUMP00000165784;OTTHUMP00000165785;clathrin heavy chain 1;clathrin heavy chain on chromosome 17;clathrin, heavy polypeptide (Hc);clathrin, heavy polypeptide-like 2 APPROVED protein-coding ENSG00000141367 HGNC:2092 00350 118955 REVIEWED 1604529 CLVS2 clavesin 2 This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013] 6 6 6 q22.31 124062048 124129515 + 123317582 123385063 + 122995971 123072920 + 6480464;8554872 12477932;14702039;19651769;22219177 134829 Q5SYC1 ABBA01025979;AK055705;AK095527;AK295158;AL591428;AMYH02014413;BC101376;BC101377;BK006900;BM684470;CH471051;NM_001010852 AAI01377;AAI01378;BAG53077;BAG58172;DAA06537;EAW48160;EAW48161;EAW48162;NP_001010852;Q5SYC1 Hs.486361;Hs.486362 1774443;2143331;2155335 AFM342xc1;G19602;SHGC-1299 C6orf212;C6orf213;MGC120572;RLBP1L2;bA160A10.4 OTTHUMP00000017121;OTTHUMP00000017122;clavesin-2;retinaldehyde binding protein 1-like 2;retinaldehyde-binding protein 1-like 2 APPROVED protein-coding ENSG00000146352 HGNC:23046 16666 REVIEWED 6481266 CLYBL-AS1 CLYBL antisense RNA 1 13 13 q22.3 100378497 100381239 - 99726243 99728985 - 101927465 AA412612;AA719038;ABBA01027116;AI149873;AL445184;AMYH02028596;BX117342;CR738309;CR741020;HG505846;HY028066;NR_046525;NR_120383;NR_120384;XR_243061;XR_243062;XR_243063;XR_243064;XR_247953;XR_247954;XR_247955;XR_253199;XR_253200;XR_253201;XR_253202 Hs.130690 APPROVED ncrna HGNC:39893 VALIDATED 735367 CMA1 chymase 1, mast cell This gene product is a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Angiotensin II has been implicated in blood pressure control and in the pathogenesis of hypertension, cardiac hypertrophy, and heart failure. Thus, this gene product is a target for cardiovascular disease therapies. This gene maps to 14q11.2 in a cluster of genes encoding other proteases. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 4839478 4842237 - 24974712 24977471 - 24505506 24508265 - 1581742;1625397;1625396;1625394;1580863;5128799;5128499;5128820;5128600;5128839;1581745;5128816;5128660;5128552;5128572;5128561;5128804;5128508;5128509;5128867;6480464;6907045 10508822;10624773;11549546;11828013;14578624;14620933;15248847;15337505;15638741;15723097;15869764;15924217;16134991;16446531;17081716;17334631;18783610;20813890;8759823 10208809;10224464;10899625;11096141;11208365;11303326;11696688;11751973;11852067;12047032;12097409;12165749;12359984;12446192;12477932;12484503;12499576;12531890;12614156;12815038;14592513;14701812;14757520;15106801;15227657;15449728;15489334;15555355;15638376;15788353;15914614;15919053;16020275;16317101;16400609;16520412;16786130;16962475;17035401;17199219;17460374;17851694;18079408;18641516;18845543;18856058;1894611;18958543;18973102;1919436;19332265;19380825;19520069;19697770;19853701;19899640;19913121;20423454;20424473;2049082;20628086;20659024;20670150;2071582;20736038;20800603;21150220;21274549;21786536;21796807;22102069;22180785;22194960;22363824;22653218;22679278;24257755;24344642;24507159;24560885;25102745;25119908;7682566;8027075;8144971;8226889;8468056;8495723;8695029;9257865;9400368;9675146;9931257 1215 P23946;Q3SY37;Q4FEB3 AB451464;ABBA01061345;AL132800;AMYH02028882;BC069110;BC069370;BC069490;BC103974;BC103975;CH471078;DQ082727;DQ082729;M64269;M69136;M69137;NM_001836;S61334;X59072 AAA52019;AAA52020;AAA52021;AAB26828;AAH69110;AAH69370;AAH69490;AAI03975;AAI03976;AAZ06432;AAZ06434;BAG70278;CAA41796;EAW66007;NP_001827;P23946 Hs.135626 1848067;2218706;5119861;5491948 (TG)_(GA)_R1;CMA1-1;GDB:185180;RH69168 CYH;MCT1;MGC119890;MGC119891 OTTHUMP00000178751;alpha-chymase;chymase;chymase 1 preproprotein transcript E;chymase 1 preproprotein transcript I;chymase, heart;chymase, mast cell;mast cell protease I APPROVED protein-coding ENSG00000092009 HGNC:2097 00346 118938 REVIEWED 1312156 CLYBL citrate lyase beta like ENCODES a protein that exhibits catalytic activity (inferred); lyase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 13 13 13 q32 81103446 81393885 + 100258919 100549388 + 99606664 99909459 + 1580863;6480464;8554872 11368773;11741334;11894096;12477932;14702039;15342556;16344560;18821565;20304029;20800603;20877624;22367966;23251661 171425 B4DU60;Q5JVB9;Q5JVC0;Q5JVC1;Q5JVC2;Q8N0X4 ABBA01027112;ABBA01027113;ABBA01027114;ABBA01027115;ABBA01027116;ABBA01027117;AF428253;AK095506;AK300510;AL137139;AL139035;AL359748;AL445184;AMYH02028592;AMYH02028593;AMYH02028594;AMYH02028595;AMYH02028596;AMYH02028597;AMYH02028598;AW247892;BC034360;BP313488;CH471085;DA621336;KF455818;NM_206808;NR_104592;XM_005254030;XM_005254031;XM_006719915 AAH34360;AAL84703;BAC04561;BAG62222;EAX09024;EAX09025;NP_996531;Q8N0X4;XP_005254087;XP_005254088;XP_006719978 Hs.655642 1336306;1677416;1730433;1737411;1737413;1752813;1757117;1857572;2111682;2143859;2175736;5015125;5037552 AI256068;D13S1232;D13S1601;D13S191;D13S986;D13S988;D8S2279;RH48969;RH98521;SHGC-106721;SHGC-144557;SHGC-17234;STS-AA007365 CLB;bA134O15.1 OTTHUMP00000018626;OTTHUMP00000018627;OTTHUMP00000018628;citrate lyase beta-like;citrate lyase subunit beta-like protein, mitochondrial protein-coding ENSG00000125246 HGNC:18355 10838 609686 VALIDATED 1349283 CMAR cell matrix adhesion regulator ASSOCIATED WITH Spastic Paraplegia 7, Autosomal Recessive (inferred) 7240710 1560826 HGNC:2099 607259 1352628 CMAHP cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008] 6 6 6 p21.32 26308566 26365922 - 25081295 25138620 - 25081067 25138392 - 6480464;8554872 11181995;11522390;11562455;12192086;12477932;14574404;16272417;16344560;18085818;19890979;20800603;23709682;7608218;8889548;9624188;9675135;9751737;9786333 8418 Q9Y471 ABBA01066542;AF074480;AK000716;AK303297;AL133268;AMYH02013335;AMYH02013336;BC022302;BC032500;BC059791;BG536615;CA312822;CH471087;CR749466;D86324;DA976765;FJ794466;NR_002174;NR_027626 AAC68881;ACN93797;BAH13934;CAH18297;EAW55476;EAW55477;EAW55478;Q9Y471 Hs.484918 1678935;1705378;1755133;1792862;1794808;2154505 PMC166143P3;PMC58741P1;RH78420;RH93101;SHGC-142060;SHGC-83548 CMAH;CSAH APPROVED pseudo HGNC:2098 603209 VALIDATED 1602646 CLVS1 clavesin 1 ENCODES a protein that exhibits phosphatidylinositol-3,5-bisphosphate binding; INVOLVED IN lysosome organization (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN endosome; clathrin-coated vesicle (ortholog); trans-Golgi network (ortholog); INTERACTS WITH benzo[a]pyrene; C60 fullerene (ortholog); clofibrate (ortholog) 8 8 8 q12.3 58190369 58404047 + 62200514 62414204 + 61287966 61501645 + 6480464;8554872 12477932;14702039;16344560;16802092;17207965;18271718;19651769;20379614;21116278 157807 E5RI68;E5RJ00;E5RK22;G3V122;Q8IUQ0 ABBA01041824;ABBA01041825;AC013543;AC023866;AC025133;AC090094;AF445194;AK091641;AK094567;AK125153;AK313040;AMYH02018062;AY094971;BC042617;BC048992;BK006899;CH471068;DA217517;NM_173519;XM_005251176;XM_005251177 AAH42617;AAM15733;AAP97323;ADQ33027;BAG35872;DAA06536;EAW86838;EAW86839;NP_775790;Q8IUQ0;XP_005251233;XP_005251234 Hs.591874 1334835;1336241;1646087;1646089;1679075;1680371;1696608;1697572;1705396;1713951;1734160;1773822;1786610;1849926;1851045;2126038;2130639;2145480;2175361;2184693;2185470;7186196 A006X24;D8S1228;D8S1596;D8S1843;D8S1898;D8S1956;D8S2108;D8S510;NIB322;RH102296;RH119404;RH66163;RH78220;RH91181;RH91768;SHGC-144187;SHGC-32770;SHGC-82908;SHGC-83561;WI-15471;WI-18548 CRALBPL;FLJ37248;MGC34646;RLBP1L1 OTTHUMP00000226481;OTTHUMP00000226484;cellular retinaldehyde-binding protein-like;clavesin-1;retinaldehyde binding protein 1-like 1;retinaldehyde-binding protein 1-like 1 APPROVED protein-coding ENSG00000177182 HGNC:23139 14581 611292 VALIDATED 1315705 CLUL1 clusterin-like 1 (retinal) INVOLVED IN cell death (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH valproic acid 18 18 18 p11.32 471678 524959 + 596998 650298 + 596998 650298 + 1580863;6480464 10675623;12477932;14507903;15489334;17286855;19913121;20379614;20628086 27098 B7Z5R4;F5GWQ8;J3QKW8;Q15846;R4GN76;R4GN95 ABBA01049813;ABBA01049814;ABBA01049815;AF395889;AK299319;AL712819;AL713125;AMYH02034188;AMYH02034189;AP001178;AX397575;BC025381;BX108184;CH471113;D63813;DQ980621;KF456338;NM_001289036;NM_014410;NM_199167;XM_005258103;XM_005258104;XM_005258105;XM_006722322 AAH25381;AAM73723;ABJ97142;ABM81845;ABM84996;BAA09882;BAH13000;CAD32164;EAX01724;EAX01725;EAX01726;NP_001275965;NP_055225;NP_954636;Q15846;XP_005258160;XP_005258161;XP_005258162;XP_006722385 Hs.732341 1335076;1340121;1728049;2109167;2138368;2142990;7186286 CLUL1_9521;D18S1140;D18S59;G63295;SHGC-31651;WI-22706 RA337M clusterin-like protein 1;retinal-specific clusterin-like protein protein-coding ENSG00000079101 HGNC:2096 16726 VALIDATED 6481268 CLYBL-AS2 CLYBL antisense RNA 2 13 13 q32.3 100342352 100343225 - 99690098 99690971 - 12477932 100874063 ABBA01027117;AL445184;AMYH02028596;BC030109;NR_046526 Hs.577064 APPROVED ncrna ENSG00000227659 HGNC:39894 VALIDATED 1349369 CMD1A cardiomyopathy, dilated 1A (autosomal dominant) ASSOCIATED WITH Cardiomyopathy, Dilated (inferred); Charcot-Marie-Tooth disease, Type 2B1 (inferred); Heart-hand syndrome, Slovenian type (inferred) 7240710 7951328 1217 HGNC:2101 115200;151660;159001;176670;181350;212112;248370;275210;605588;610140;613205 1606956 CMC1 C-x(9)-C motif containing 1 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH CAPILLARY MALFORMATIONS, CONGENITAL (inferred); Lung Neoplasms (inferred); Sturge-Weber Syndrome (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 3 3 3 p24.1 28219569 28297727 + 28282838 28361264 + 28241347 28319773 + 6480464;7240710;8554872 12477932;17207965;18443040;20877624;24250222 152100 C9JES7;F8WAC1;H7C3D8;Q7Z7K0 ABBA01024980;AC092503;AC098616;AF086095;AMYH02006456;BC052644;BX648671;CH471055;CR749370;NM_182523;XM_005264895 AAH52644;ADQ33062;CAH18223;EAW64390;EAW64391;NP_872329;Q7Z7K0;XP_005264952 Hs.444724 1681076;1700884;1717417;1751451;1846805;2133748;5019791 A009V06;G32867;RH104069;RH122199;RH91098;SHGC-105227;STS-H03343 C3orf68;DKFZp779D0833;MGC61571;cmc1p COX assembly mitochondrial protein 1 homolog;COX assembly mitochondrial protein homolog;CX9C mitochondrial protein required for full expression of COX 1;OTTHUMP00000208427;OTTHUMP00000208428;OTTHUMP00000208430;mitochondrial metallochaperone-like protein APPROVED protein-coding HGNC:28783 14698 163000;185300;615166 PROVISIONAL 1348558 CMD1C cardiomyopathy, dilated 1C (autosomal dominant) ASSOCIATED WITH Cardiomyopathy, Dilated, 1C (inferred); MYOPATHY, MYOFIBRILLAR, 4 (inferred) 7240710 8823300 1219 HGNC:2103 601493;609452 1322088 CMAS cytidine monophosphate N-acetylneuraminic acid synthetase Sialic acids are a family of nine-carbon sugars on cell surface glycoproteins and glycolipids that play a pivotal role in determining the structure and function of many animal tissues. The pattern of cell surface sialylation is highly regulated during embryonic development and N-glycosylation is a common post-translational modification during cellular differentiation. Sialic acids play important roles in cell-cell communications and immune responses. Sialylated glycoprotein and glycolipid formation requires the activation of a sialic acid to a cytidine monophosphate (CMP) diester by the enzyme encoded by this gene: CMP-N-acetylneuraminic acid synthetase. [provided by RefSeq, Jul 2012] 12 12 12 p12.1 27353627 27373064 + 22199108 22218608 + 22046176 22065674 + 1580863;6480464;6907045;8554872 11546777;11602804;11893746;12136098;12477932;14702039;15489334;16344560;19666032;19946888;21116278;21139048;21832049;21890473;22268729;23000965;24250222;24816145;25027693;7566098;8125298;8889548;8889549;9689047 55907 F5GYM0;F5H296;Q8NFW8 ABBA01067978;ABBA01067979;AC007671;AC092862;AF271388;AF397212;AJ326388;AK022927;AK222981;AL832975;AMYH02026174;BC016609;BM671960;CH471094;DA344740;DB527942;NM_018686 AAF76203;AAH16609;AAM90580;ADZ16094;BAB14311;BAD96701;CAH56346;EAW96464;EAW96465;EAW96466;NP_061156;Q8NFW8 Hs.311346 1726027;2109169;2151936 CMAS_4595;G62289;STS-W85899 CSS CMP-N-acetylneuraminic acid synthase;CMP-N-acetylneuraminic acid synthetase;CMP-Neu5Ac synthetase;CMP-NeuNAc synthase;CMP-NeuNAc synthetase;CMP-sialic acid synthetase;N-acylneuraminate cytidylyltransferase;OTTHUMP00000240081;OTTHUMP00000240082;cytidine 5'-monophosphate N-acetylneuraminic acid synthetase APPROVED protein-coding ENSG00000111726 HGNC:18290 04501 603316 REVIEWED 1606460 CMBL carboxymethylenebutenolidase homolog (Pseudomonas) CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the medoxomil moiety is linked to an oxygen atom (Ishizuka et al., 2010 [PubMed 20177059]).[supplied by OMIM, Apr 2010] 5 5 5 p15.2 10315760 10346293 - 10277707 10308168 - 10277595 10308056 - 6480464;8554872 12477932;16328025;16344560;17207965;17353931;19056867;20000738;20177059;21963094;23184937;23398456;23824909;3804974 134147 Q96DG6 ABBA01020593;ABBA01020594;ABBA01020595;ABBA01020596;AC012640;AJ278125;AK074197;AK315390;AMYH02010846;BC001573;BX647141;CH471102;DA628493;NM_138809 AAH01573;ADQ31870;BAB85014;BAG37783;CAC81950;EAX08070;EAX08071;NP_620164;Q96DG6 Hs.192586 1643696;1665046;1857203;2154433;2160100;2161142;2163186;2164281;2182157;5022578;5022651 A004G20;A008C19;D11S2921;D1S1423;D5S1657E;RH41783;RH65280;RH69846;SGC34096;STS-N93586;T03685 FLJ23617;JS-1 OTTHUMP00000161672;carboxymethylenebutenolidase homolog;carboxymethylenebutenolidase-like (Pseudomonas) APPROVED protein-coding HGNC:25090 14055 613379 VALIDATED 2308876 CMC4 C-x(9)-C motif containing 4 This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the downstream 8 kDa protein that localizes to mitochondria.[provided by RefSeq, Mar 2009] X X X q28 154448614 154458264 - 154289897 154299547 - 155061622 155071272 - 6480464 11076863;11181995;12477932;1303175;15489334;15489336;16381901;18029348;20922212;7784073;7970717;8361760;9405159 100272147 P56277 ABBA01029112;ABBA01029113;ABBA01029114;ABBA01029115;AMYH02040865;BC002600;BG707795;BT006749;BX470111;CH471172;NM_001018024;X64644;Z24459 AAH02600;AAP35395;CAA80829;CAL38333;EAW72639;NP_001018024;P56277 Hs.6917 1646269;1802912;1813316;1813462;1815618;1817474;1820278;1820344;1820478;1824090;1824486;1826778;1826882;1828672;1831506;1843464;2103162;2103164;2103166;2103168;2103170;2103172;2103174;2103176;2103178;2170335;2189485;2217648;5014475 D7S2905;ECD02345;ECD07679;ECD07752;ECD08846;ECD09787;ECD11213;ECD11247;ECD11314;ECD13141;ECD13341;ECD14504;ECD14556;ECD15463;ECD16890;ECD22941;MARC_7353-7354:992008374:4;MTCP1_2941;SHGC-2526;STS-AA029308;stSG604427;stSG604428;stSG604429;stSG604430;stSG604431;stSG604432;stSG604433;stSG604434;stSG604435 C6.1B;MGC2069;MTCP1;MTCP1B;MTCP1NB;p8;p8MTCP1 C-x(9)-C motif containing 4 homolog;MTCP-1 type A;OTTHUMP00000015489;cx9C motif-containing protein 4;mature T-cell proliferation 1 neighbor protein;mature T-cell proliferation 1, isoform p8;mature T-cell proliferation-1 type A;protein p8 MTCP-1 APPROVED protein-coding ENSG00000182712 HGNC:35428 REVIEWED 1347211 CMD1H cardiomyopathy, dilated 1H (autosomal dominant) ASSOCIATED WITH Idiopathic dilation cardiomyopathy (inferred) 7240710 23459 1341159 D2S2339 HGNC:2108 604288 1349190 CMD1J cardiomyopathy, dilated 1J (autosomal dominant) ASSOCIATED WITH Cardiomyopathy, Dilated, 1J (inferred); Deafness, Autosomal Dominant 10 (inferred) 7240710 10769282 56002 HGNC:2109 601316;605362 1343233 CMD1E cardiomyopathy, dilated 1E (autosomal dominant) ASSOCIATED WITH ATRIAL FIBRILLATION, FAMILIAL, 10 (inferred); Brugada Syndrome (inferred); Cardiomyopathy, Dilated, 1E (inferred) 7240710 8567977 1221 HGNC:2105 113900;272120;601144;601154;603829;603830;608567;614022 1353978 CMD1F cardiomyopathy, dilated 1F (autosomal dominant) 9382102 1222 HGNC:2106 1346621 CMD1B cardiomyopathy, dilated 1B (autosomal dominant) ASSOCIATED WITH Familial dilated cardiomyopathy (inferred) 7240710 7573045 1218 HGNC:2102 600884 1601986 CMC2 C-x(9)-C motif containing 2 FOUND IN mitochondrion; INTERACTS WITH all-trans-retinoic acid; coumestrol; daunorubicin 16 16 16 q23.2 65308104 65338903 - 81009699 81040713 - 80975802 81007019 - 6480464 12477932;15489334;19844255;20220131;20379614;21139048;21424380;21942715;24250222;24816145 56942 H3BN28;H3BNN8;H3BP68;H3BPP2;H3BPT0;H3BQQ1;H3BRC3;H3BTB6;Q9NRP2 ABBA01016986;AC009079;AC092718;AF201935;AK123193;AMYH02032502;AMYH02032503;BC032631;CH471114;KF570268;NM_020188;XM_005256056;XM_005256057;XM_005256058 AAF86871;AAH32631;ABM81706;ABM84865;EAW95557;EAW95558;EAW95559;EAW95560;EAW95561;NP_064573;Q9NRP2;XP_005256113;XP_005256114;XP_005256115 Hs.55028 1685550;1736566;2134372;2141191 D16S2559E;RH64945;RH67804;RH68439 2310061C15Rik;C16orf61;DC13 COX assembly mitochondrial protein 2 homolog;OTTHUMP00000174970;hypothetical protein LOC56942;uncharacterized protein C16orf61 APPROVED protein-coding HGNC:24447 16783 VALIDATED 1348233 CMH3 cardiomyopathy, hypertrophic 3 ASSOCIATED WITH Cardiomyopathy, Dilated, 1y (inferred); Cardiomyopathy, Familial Hypertrophic, 3 (inferred) 7240710 1228 HGNC:2115 115196;611878 1343665 CMD2A cardiomyopathy, dilated 2A (autosomal recessive) ASSOCIATED WITH Cardiomyopathy, Dilated, 1FF (inferred); Cardiomyopathy, Dilated, 2a (inferred); CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 (inferred) 7240710 1224 HGNC:2110 115210;611880;613286;613690 1345968 CMD1D cardiomyopathy, dilated 1D (autosomal dominant) ASSOCIATED WITH Cardiomyopathy, Dilated, 1D (inferred); Cardiomyopathy, Familial Hypertrophic, 2 (inferred); Cardiomyopathy, Familial Restrictive, 3 (inferred) 7240710 8521556 1220 HGNC:2104 115195;601494;612422 1603294 CMIP c-Maf inducing protein This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 16 16 16 q23 65776243 66042401 + 81478775 81745367 + 81445170 81711762 + 6480464;8554872 11214970;12477932;12939343;14702039;15128042;16341674;19019440;19646677;20018188;20200355;20379614;20484117;20686565;20972266;21139048;21457949;21493956;21890473;21906983;21963094;21987572;22158537;22479202;22505724;22507836;23000965;23302718;23648065;23667675;24067439;24097068;24105470 80790 Q8IY22 AB051481;ABBA01016957;ABBA01016958;ABBA01016959;ABBA01016960;ABBA01016961;ABBA01016962;ABBA01016963;AC092135;AC092139;AC099480;AC099524;AK096598;AK304418;AMYH02032511;AMYH02032512;AMYH02032513;AY172689;BC038113;BM789770;CH471114;CV570964;NG_029839;NM_030629;NM_198390;XM_005256179;XM_005256181;XM_005256182;XM_006721285 AAH38113;AAO17720;BAB21785;BAH14178;EAW95527;EAW95528;EAW95529;NP_085132;NP_938204;Q8IY22;XP_005256236;XP_005256238;XP_005256239;XP_006721348 Hs.594095 1335598;1340422;1643782;1677262;1690620;1690622;1728575;1750713;1760107;1764247;1764365;1766433;1766811;1773369;1784712;1792814;2117201;2162233 D16S505;D16S511;G63579;GAAT-P8500;PMC164657P3;RH91115;RH94128;RH98800;SHGC-107750;SHGC-112199;SHGC-147869;SHGC-147963;SHGC-149767;SHGC-152162;SHGC-152182;SHGC-30303;SHGC-60674;WI-10802 KIAA1694;TCMIP;c-Mip;tc-Mip C-Maf-inducing protein;truncated c-Maf-inducing protein APPROVED protein-coding ENSG00000153815 HGNC:24319 10839 610112 REVIEWED 1348222 CMDJ craniometaphyseal dysplasia, Jackson type (dominant) ASSOCIATED WITH Chondrocalcinosis 2 (inferred); Craniometaphyseal Dysplasia, Autosomal Dominant (inferred) 7240710 1225 HGNC:2112 118600;123000 1349386 CMM cutaneous malignant melanoma/dysplastic nevus ASSOCIATED WITH MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (inferred) 7240710 1531137 1243 HGNC:2124 155600 1344958 CMH2 cardiomyopathy, hypertrophic 2 ASSOCIATED WITH Cardiomyopathy, Dilated, 1D (inferred); Cardiomyopathy, Familial Hypertrophic, 2 (inferred); Cardiomyopathy, Familial Restrictive, 3 (inferred) 7240710 7981753 1227 HGNC:2114 115195;601494;612422 1348723 CMKLR1 chemokine-like receptor 1 ENCODES a protein that exhibits chemokine receptor activity (inferred); receptor activity (inferred); INVOLVED IN chemotaxis; G-protein coupled receptor signaling pathway; negative regulation of NF-kappaB transcription factor activity; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN plasma membrane; INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; phorbol 13-acetate 12-myristate 12 12 12 q24.1 108351249 108402507 - 108681821 108733094 - 108288044 108339317 - 1580863;6480464;8554872 12477932;14530373;14702039;14759258;15342556;15489334;15753205;16344560;16904155;17558413;18564921;18976975;19168032;19443732;19906641;20044979;20237496;20379614;20921899;20932654;21192818;21346723;21483023;21715684;21959042;22610747;22688191;22768214;22842622;23469143;23495698;23904282;23999103;24659779;8976386;9144535;9425281;9603476 1240 F8VSC8;F8VYN7;Q99788 AB065871;AB112777;ABBA01053139;ABBA01053140;AC009729;AC063957;AK126405;AK291800;AMYH02027153;AMYH02027154;AY497547;BC106927;BC106928;BP328503;BT019556;BT019557;CH471054;DA466082;DA939526;L12406;NM_001142343;NM_001142344;NM_001142345;NM_004072;U79526;U79527;Y14838 AAC51258;AAC51259;AAI06928;AAI06929;AAQ62778;AAR90850;AAV38363;AAV38364;BAC06089;BAF34667;BAF84489;CAA75112;EAW97810;EAW97811;NP_001135815;NP_001135816;NP_001135817;NP_004063;Q99788 Hs.197143 1337955;1712496;1712500;1721535;1767918;1782052;2186865 D12S1605;G54197;G54199;G59772;RH47923;SHGC-152880;STS-U79526 ChemR23;DEZ;MGC126105;MGC126106;RVER1 CHEMERINR;G-protein coupled receptor ChemR23;G-protein coupled receptor DEZ;OTTHUMP00000241576;OTTHUMP00000241577;OTTHUMP00000241578;OTTHUMP00000241579;chemerin receptor;chemokine receptor-like 1;orphan G-protein coupled receptor, Dez;resolvin E1 receptor protein-coding ENSG00000174600 HGNC:2121 03829 602351 VALIDATED 1345522 CMR1A cardiomyopathy, restrictive 1A (autosomal dominant) 1245 HGNC:2126 1352561 CMD1K cardiomyopathy, dilated 1K (autosomal dominant) ASSOCIATED WITH Cardiomyopathy, Dilated, 1K (inferred) 7240710 11085912 65014 1334678;1338117 D6S1644;D6S1694 HGNC:14541 605582 1344628 CMR3A cardiomyopathy, restrictive 3A (X-linked) 1247 HGNC:2128 1345833 CMT1A Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia) ASSOCIATED WITH Charcot-Marie-Tooth Disease (inferred); Charcot-Marie-Tooth Disease, Demyelinating, Type 1e (inferred); Guillain-Barre Syndrome (inferred) 7240710 1677316 1248 HGNC:2129 118220;118300;139393;145900;162500;180800 1352144 CMT2B Charcot-Marie-Tooth neuropathy 2B ASSOCIATED WITH Charcot-Marie-Tooth disease, Type 2B (inferred) 7240710 1250 HGNC:2132 600882 1348357 CMT4A Charcot-Marie-Tooth neuropathy 4A ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (inferred); Charcot-Marie-Tooth Disease, Recessive Intermediate A (inferred); Charcot-Marie-Tooth disease, Type 2K (inferred) 7240710 1251 HGNC:2133 214400;607706;607831;608340 1352657 CMR2A cardiomyopathy, restrictive 2A (autosomal recessive) 1246 HGNC:2127 1604360 CMPK1 cytidine monophosphate (UMP-CMP) kinase 1, cytosolic This gene encodes one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Feb 2012] 1 1 1 p32 46085741 46130781 + 47799469 47844511 + 47333797 47378839 + 5133252;5133250;5133414;634248;6480464;6907045 10581173;12678497;16400681;21642870 10462544;10931946;11453085;11681623;11912132;12477932;12694191;1286669;15163660;15489334;15550676;15606899;16710414;172293;17608725;19056867;19322201;19568409;21139048;21559290;21890473;21906983;220950;22505724;22838950;23000965;24816145;8125298;8313870 51727 B2R6S5;E9PJD2;P30085;Q5T0D2 ABBA01050819;ABBA01050820;ABBA01050821;ABBA01050822;ABBA01050823;ABBA01050824;AF070416;AF087865;AF110643;AF112216;AF259961;AK025258;AK223014;AK293238;AK294294;AK298502;AK312693;AL513322;AL607122;AMYH02000971;BC014961;BC017806;CH471059;DB494965;NM_001136140;NM_016308;NR_046394;NR_046395 AAD48583;AAF17204;AAF17709;AAG22609;AAH14961;AAP97174;ABM83139;ABM86334;ABM86335;BAD96734;BAG35572;BAG56775;BAG57577;BAG60709;EAX06869;EAX06870;EAX06871;NP_001129612;NP_057392;P30085 Hs.731647 1687528;1691818;1736626;1787850;2177597 AL033960;D1S2073E;RH69525;SHGC-132626;SHGC-36697 CK;CMK;CMPK;RP11-511I2.1;UMK;UMP-CMPK;UMPK OTTHUMP00000009565;OTTHUMP00000039186;OTTHUMP00000231599;UMP-CMP kinase;UMP/CMP kinase;UMP/CMPK;cytidylate kinase;dCMP kinase;deoxycytidylate kinase;nucleoside-diphosphate kinase;uridine monophosphate kinase;uridine monophosphate/cytidine monophosphate kinase APPROVED protein-coding ENSG00000162368 HGNC:18170 18258 191710 REVIEWED 1601841 CMSS1 cms1 ribosomal small subunit homolog (yeast) ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 4-phenylbutyric acid; aflatoxin B1; benzo[a]pyrene 3 3 3 q12.1 97925790 98288081 + 99536678 99897476 + 99817834 100178632 + 6480464;8554872 12477932;14702039;15489334;17207965;19160420;19615732;20379614;21139048;21145461;21988832;22863734;23000965;24144296 84319 C9IY68;C9J384;D3DN44;F8WC72;H7C515;Q9BQ75 ABBA01061795;ABBA01061796;ABBA01061797;ABBA01061798;ABBA01061799;ABBA01061800;ABBA01061801;AC024938;AC069222;AC117419;AC129803;AC130887;AK124387;AK291392;AK300704;AK312483;AMYH02007296;AMYH02007297;AMYH02007298;AMYH02007299;AMYH02007300;AMYH02007301;BC006475;BC006512;CH471052;NM_001167924;NM_032359 AAH06475;AAH06512;ADQ31877;BAF84081;BAG35386;BAG54034;BAG62383;EAW79829;EAW79830;EAW79831;EAW79832;NP_001161396;NP_115735;Q9BQ75 Hs.581320 1337933;1658071;1674834;1682840;1718683;1719297;1735120;1754775;1784880;1784882;1784902;1851290;2109245;2114256;2114350;2114932;2116934;2130218;2145674;5095004;5124786 D3S2419;D3S2791E;D3S4054;DOC1_9246;FILIP1L;RH123032;RH123371;RH16583;RH41998;RH48251;RH92520;RH98893;SHGC-33580;SHGC-70123;SHGC-70124;SHGC-77152;SHGC-77163;SHGC-82232;STS-H73572;STS-N32498;WI-8558 C3orf26;MGC4308 OTTHUMP00000213941;OTTHUMP00000213942;OTTHUMP00000213945;hypothetical protein LOC84319;uncharacterized protein C3orf26 APPROVED protein-coding ENSG00000184220 HGNC:28666 11351 VALIDATED 1602074 CMPK2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 2 2 2 p25.2 6901418 6918887 - 6980684 7006766 - 6840553 6866635 - 5133256;5133255;6480464;6907045;8554872 192455;20136355 12477932;16344560;17999954;18029348;18498354;20379614;22505724;24816145 129607 Q5EBM0 ABBA01023895;ABBA01023896;AC017076;AK127983;AK308509;AMYH02003227;BC016969;BC089425;BC132821;BC141802;BC144202;BX463706;CH471053;DA501203;NM_001256477;NM_001256478;NM_207315;NR_046236 AAH16969;AAH89425;AAI32822;AAI41803;AAI44203;BAC87217;EAX01036;EAX01037;NP_001243406;NP_001243407;NP_997198;Q5EBM0 Hs.7155 1645205;1646458;1647186 SHGC-31892;WI-12597;WI-19914 TMPK2;TYKi;UMP-CMPK2 OTTHUMP00000200304;OTTHUMP00000200305;UMP-CMP kinase 2, mitochondrial;cytidylate kinase 2;hypothetical protein loc129607;mitochondrial UMP-CMP kinase;nucleoside-diphosphate kinase;thymidine monophosphate kinase 2;thymidylate kinase family LPS-inducible member APPROVED protein-coding ENSG00000134326 HGNC:27015 11233 611787 VALIDATED 1320683 CMTM4 CKLF-like MARVEL transmembrane domain containing 4 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 16 16 16 q21-q22.1 51155146 51176975 - 66648653 66730610 - 66614750 66696707 - 1302596;1580863;6480464 12782130 12477932;14702039;20213316;21988832 146223 J3QRP2;Q8IZR5 ABBA01025409;ABBA01025410;ABBA01025411;ABBA01025412;AC018557;AF479814;AF521889;AF521890;AK000855;AK126493;AL157468;AMYH02032209;AMYH02032210;AMYH02032211;AMYH02032212;AMYH02032213;AW207043;BC093679;CH471092;CR933620;NM_178818;NM_181521 AAH93679;AAN73436;AAN73845;AAN73846;EAW83036;EAW83037;NP_848933;NP_852662;Q8IZR5 Hs.643961 1668436;1678421;1740145;1755993;1855623;2128818;2141705;2153928;2156593;2218382;5093516 1626;A009Q07;CKLFSF4_4578;D16S2656;D16S3013;G32764;RH70359;RH78139;SHGC-142811;SHGC-60722;STS-T77891 CKLFSF4 CKLF-like MARVEL transmembrane domain-containing protein 4;OTTHUMP00000174785;chemokine-like factor super family 4;chemokine-like factor superfamily member 4 APPROVED protein-coding ENSG00000183723 HGNC:19175 07435 607887 REVIEWED 1342693 CMTM2 CKLF-like MARVEL transmembrane domain containing 2 This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008] 16 16 16 q21 51119925 51128752 + 66613351 66622178 + 66579448 66588275 + 6480464 12477932;12782130;14702039;15489334;15778092;15896670;17334588;18029348;21034562;21832049;22901147 146225 H3BMC0;Q8TAZ6 ABBA01025408;AC010542;AF479260;AK098598;AMYH02032208;AY862139;BC025354;BI830241;CH471092;NM_001199317;NM_144673 AAH25354;AAN73038;AAW51946;ABM83762;ABW03536;BAC05345;EAW83030;NP_001186246;NP_653274;Q8TAZ6 Hs.195685 CKLFSF2;MGC39436 CKLF-like MARVEL transmembrane domain-containing protein 2;OTTHUMP00000174786;OTTHUMP00000235188;chemokine-like factor super family 2;chemokine-like factor superfamily 2;chemokine-like factor superfamily member 2 APPROVED protein-coding ENSG00000140932 HGNC:19173 07434 607885 REVIEWED 1318724 CMTM3 CKLF-like MARVEL transmembrane domain containing 3 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5' UTRs, but encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 16 16 16 q21 51144695 51154288 + 66637935 66647795 + 66603996 66613892 + 6480464 12477932;12782130;14702039;15087455;15489334;17002874;18402773;19509237;21832049;21900206;22779921;24131472 123920 B3KQJ8;H3BN06;H3BU39;H3BUD5;I3L3C2;J3KSM1;J3KSR6;Q96MX0 ABBA01025408;ABBA01025409;AC018557;AF479813;AK056324;AK075075;AMYH02032208;AMYH02032209;AY166714;BC023509;BC023591;BC036042;BC040227;BC047701;BI457147;CH471092;CT001840;NM_144601;NM_181553;NR_037613;NR_037619;XM_006721131;XM_006721132 AAH23509;AAH23591;AAH36042;AAH40227;AAH47701;AAN73435;AAN75573;BAB71150;BAG52060;EAW83031;EAW83032;EAW83033;EAW83034;EAW83035;NP_653202;NP_853531;Q96MX0;XP_006721194;XP_006721195 Hs.298198 1647007;1666103;1738855;1849236;1849238 A001Z40;D16S2901;D16S3311;G19828;SHGC-60820 BNAS2;CKLFSF3;FLJ31762;MGC51956 CKLF-like MARVEL transmembrane domain-containing protein 3;OTTHUMP00000174790;chemokine-like factor super family 3;chemokine-like factor superfamily member 3 APPROVED protein-coding ENSG00000140931 HGNC:19174 16259 607886 REVIEWED 1317145 CMTM6 CKLF-like MARVEL transmembrane domain containing 6 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008] 3 3 3 p22.3 32459890 32481492 - 32522804 32544403 - 32481312 32502911 - 1580863;6480464 12477932;12782130;14702039;15489334;19322201;19946888;21139048;21900206;22053931;24097068 54918 Q9NX76;Q9P1E2 ABBA01024939;AC104306;AF116694;AF479261;AK000403;AK172793;AMYH02006497;BC002797;BC009187;BC027472;BC042995;CH471055;CR457231;NM_017801 AAF71114;AAH02797;AAN73039;BAA91141;CAG33512;EAW64429;EAW64430;NP_060271;Q9NX76 Hs.380627;Hs.731820 1653120;1717537;1735338;1770353;2109151;2144883;2150284;5022322;5093460 A009P12;CKLFSF6_9845;D11S2560;D3S2961E;G32730;RH122073;SHGC-76789;SHGC-76792;SHGC-76811 CKLFSF6;FLJ20396;PRO2219 CKLF-like MARVEL transmembrane domain-containing protein 6;OTTHUMP00000161312;chemokine-like factor super family 6;chemokine-like factor superfamily 6;chemokine-like factor superfamily member 6 APPROVED protein-coding ENSG00000091317 HGNC:19177 06987 607889 REVIEWED 1351246 CMTM8 CKLF-like MARVEL transmembrane domain containing 8 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008] 3 3 3 p22.3 32217566 32349242 + 32280171 32411817 + 32238679 32370321 + 1580863;6480464 12477932;12782130;15489334;16263120;16806010;17149703;17207965;17681841;18711365;19308021;20379614;21254220;22174851;22337876;24347629 152189 Q8IZV2 ABBA01024941;ABBA01024942;ABBA01024943;ABBA01024944;ABBA01024945;AC097639;AC103558;AF474370;AMYH02006492;AMYH02006493;AMYH02006494;AMYH02006495;AMYH02006496;AY598783;BC041390;CH471055;NM_178868 AAH41390;AAN73034;AAT11020;ADQ32514;EAW64423;NP_849199;Q8IZV2 Hs.154986 1768967;1847868;2137889 AFM087XD3;D3S4186;D3S4209 CKLFSF8;CKLFSF8-V2 CKLF-like MARVEL transmembrane domain-containing protein 8;OTTHUMP00000161318;OTTHUMP00000208827;chemokine-like factor super family 8;chemokine-like factor superfamily 8;chemokine-like factor superfamily member 8 APPROVED protein-coding ENSG00000170293 HGNC:19179 06989 607891 REVIEWED 1317204 CMTR1 cap methyltransferase 1 ENCODES a protein that exhibits mRNA (nucleoside-2'-O-)-methyltransferase activity; INVOLVED IN 7-methylguanosine mRNA capping; cap1 mRNA methylation; mRNA methylation; FOUND IN cytoplasm; nucleus; INTERACTS WITH diazinon; paracetamol; 3,4-methylenedioxymethamphetamine (ortholog) 6 6 6 p21.2 38955882 39004268 + 37400907 37450637 + 37433131 37482827 + 1580863;6480464 12477932;14574404;15489334;16344560;17081983;18029348;18533109;20713356;21139048;21145461;21890473;22505724;23000965;7788527 23070 H0Y4T0;H0YCQ1;Q5T7F5;Q5T7F8;Q8N1G2 ABBA01038285;AK000348;AK025809;AK292564;AL353597;AMYH02013569;BC010731;BC031890;CH471081;D43949;DA508836;NM_015050;XM_005248955;XM_006715028 AAH10731;AAH31890;BAA07893;BAF85253;EAX03946;NP_055865;Q8N1G2;XP_005249012;XP_006715091 Hs.520102 1339603;1689540;1794558;2150971;2154707;2164672;2179300;2181372 D6S1114E;D6S1602;D6S2055;NIB250;PMC31832P1;RH25310;RH66134;WI-15296 FLJ22156;FTSJD2;ISG95;KIAA0082;MTr1;hMTr1 FtsJ methyltransferase domain containing 2;OTTHUMP00000016324;S-adenosyl-L-methionine-dependent methyltransferase FTSJD2;cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1;cap1 2'O-ribose methyltransferase 1;ftsJ methyltransferase domain-containing protein 2;interferon-stimulated gene 95 kDa protein APPROVED protein-coding ENSG00000137200 HGNC:21077 08305 VALIDATED 1316008 CMTM5 CKLF-like MARVEL transmembrane domain containing 5 This gene encodes a member of the chemokine-like factor superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. The encoded protein may exhibit tumor suppressor activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 14 14 14 q11.2 3708728 3711692 + 23846017 23848981 + 23376808 23379772 + 1580863;6480464;8554872 12477932;12782130;14702039;15489334;17207965;17908965;19124004;19577543;20356458;20416169;20721248;21168207;21841490;24721428;24722188 116173 C9JAI6;Q96DZ9 ABBA01061320;AF479262;AF527413;AF527414;AF527948;AF527949;AK094840;AK289886;AL049829;AMYH02028869;AY820135;BC013109;BC029729;CH471078;CQ893587;NM_001037288;NM_001288744;NM_001288745;NM_001288746;NM_138460;XM_005267304 AAH13109;AAN73040;AAQ08985;AAQ08986;AAQ09008;AAQ09009;AAV69870;ADQ31802;BAC04432;BAF82575;CAH68715;EAW66156;EAW66157;EAW66158;EAW66159;EAW66160;NP_001032365;NP_001275673;NP_001275674;NP_001275675;NP_612469;Q96DZ9;XP_005267361 Hs.99272 1679956;1796084 IL17E_757;RH92419 CKLFSF5;FLJ37521 CKLF-like MARVEL transmembrane domain-containing protein 5;OTTHUMP00000066724;OTTHUMP00000164597;OTTHUMP00000246239;OTTHUMP00000246240;OTTHUMP00000246241;chemokine-like factor super family 5;chemokine-like factor superfamily member 5 APPROVED protein-coding ENSG00000166091 HGNC:19176 06986 607888 REVIEWED 1353077 CMTX2 Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive) ASSOCIATED WITH Charcot-Marie-Tooth disease, X-linked recessive, 2 (inferred) 7240710 1253 HGNC:2137 302801 1343738 CMTX3 Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) ASSOCIATED WITH Charcot-Marie-Tooth disease, X-linked recessive, 3 (inferred) 7240710 2245309 1254 HGNC:2138 302802 1316732 CMTM1 CKLF-like MARVEL transmembrane domain containing 1 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CKLF (chemokine-like factor).[provided by RefSeq, Feb 2011] 16 16 16 q21 51106868 51119612 + 66599849 66613038 + 66566391 66579135 + 1580863;6480464 12477932;12782130;15147728;15778092;20237496;23824909 113540 E9PAX0;E9PIL3;H0YEC2;Q8IZ96 ABBA01025408;AC010542;AF278576;AF278577;AMYH02032208;AY174118;AY174119;AY174120;AY174121;AY174122;AY174123;AY174124;AY174125;AY174126;AY174127;AY174128;AY174129;AY174130;AY174131;AY174132;AY174133;AY174134;AY174135;AY174136;AY174137;AY174138;BC018586;BC028676;BC057852;CH471092;DN992496;DQ309766;DQ355985;NM_052999;NM_181268;NM_181269;NM_181270;NM_181271;NM_181272;NM_181283;NM_181296 AAH57852;AAK73015;AAK73016;AAN73227;AAN73228;AAN73229;AAN73230;AAN73231;AAN73232;AAN73233;AAN73234;AAN73235;AAN73236;AAN73237;AAN73238;AAN73239;AAN73240;AAN73241;AAN73242;AAN73243;AAN73244;AAN73245;AAN73246;AAN73247;ABC33727;ABC86984;EAW83023;EAW83024;EAW83025;EAW83026;EAW83027;EAW83028;EAW83029;NP_443725;NP_851785;NP_851786;NP_851787;NP_851788;NP_851789;NP_851800;NP_851813;Q8IZ96 Hs.15159;Hs.698621;Hs.722591 1771759;5020635;5022578;5022651;5037552 D11S2921;D1S1423;D7S3207;D8S2279;SHGC-36487 CKLFH;CKLFH1;CKLFSF1;MGC71870 CKLF-like MARVEL transmembrane domain-containing protein 1;OTTHUMP00000174787;OTTHUMP00000174788;OTTHUMP00000174789;OTTHUMP00000233277;OTTHUMP00000233280;OTTHUMP00000233285;OTTHUMP00000233286;OTTHUMP00000233287;OTTHUMP00000235187;chemokine-like factor super family 1;chemokine-like factor superfamily 1;chemokine-like factor superfamily member 1;chemokine-like factor-like protein CKLFH1 APPROVED protein-coding ENSG00000089505 HGNC:19172 07433 607884 REVIEWED 1352367 CNA1 cornea plana 1 (autosomal dominant) ASSOCIATED WITH Cornea Plana 1 (inferred) 7240710 1255 HGNC:2139 121400 1601859 CMTR2 cap methyltransferase 2 ENCODES a protein that exhibits mRNA (nucleoside-2'-O-)-methyltransferase activity; INVOLVED IN 7-methylguanosine mRNA capping; cap2 mRNA methylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH aflatoxin B1; formaldehyde; paracetamol 16 16 16 q22.2 55626986 55634292 - 71315292 71323509 - 71281389 71289606 - 6480464;8554872 12477932;14702039;16344560;21139048;21310715;21890473;21906983;23000965;24250222 55783 H3BNZ8;H3BR19;H3BS00;H3BTZ7;H3BUK2;Q8IYT2 AA968997;ABBA01032108;AC106736;AC245456;AF458590;AK000289;AK002033;AK023183;AK226169;AK315056;BC034468;BC035005;BX648660;CH471166;DB227997;DB240113;NM_001099642;NM_018348;XM_005256046;XM_005256047 AAH34468;AAH35005;AAM49718;BAA91058;BAA92047;BAB14452;BAG37532;EAW59246;EAW59247;NP_001093112;NP_060818;Q8IYT2;XP_005256103;XP_005256104 Hs.72782 1754707;2131781;2149793 RH48685;SHGC-133070;SHGC-63647 AFT;FLJ11171;FTSJD1;HMTr2;MTr2 FtsJ methyltransferase domain containing 1;OTTHUMP00000174919;adrift homolog;cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2;cap2 2'O-ribose methyltransferase 2;ftsJ methyltransferase domain-containing protein 1 APPROVED protein-coding ENSG00000180917 HGNC:25635 08560 VALIDATED 1354443 CNC Carney complex, multiple neoplasia and lentiginosis ASSOCIATED WITH Carney Complex (inferred) 7240710 8609225 1257 1337841;7186151;7186490 D2S391;D2S393 HGNC:2141 605244 1323261 CNBD2 cyclic nucleotide binding domain containing 2 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; cocaine (ortholog) 20 20 20 q11.23 31304814 31366608 + 34556529 34618622 + 35968607 36030700 + 6480464;8554872 11780052;12477932;14702039;16344560 140894 Q4G141;Q96M20;U3KQM1 ABBA01019130;ABBA01019131;ABBA01019132;ABBA01019133;AI191598;AK057454;AL109965;AL359828;AMYH02037012;AX428101;BC030782;BC057288;BC114634;BC114945;CH471077;DB023698;NM_001207076;NM_080834;XM_005260295;XM_006723714 AAH30782;AAI14946;BAB71494;CAD35984;EAW76148;EAW76149;NP_001194005;NP_543024;Q96M20;XP_005260352;XP_006723777 Hs.732697 5014051;5015619;5022200;5022649;5037552 D11S2875;D11S3114;D8S2278;D8S2279;L18426 C20orf152;CNMPD1;MGC138880;dJ954P9.1 OTTHUMP00000030815;OTTHUMP00000030816;cyclic nucleotide (cNMP) binding domain containing 1;cyclic nucleotide-binding domain-containing protein 2;hypothetical protein LOC140894;uncharacterized protein C20orf152 APPROVED protein-coding ENSG00000149646 HGNC:16145 09838 VALIDATED 1603875 CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 16 16 16 q12.1 34572289 34584088 + 50059121 50070999 + 50025206 50037088 + 6480464 12477932;14702039;15342556;19322201;22134922 255919 B8YCP3;H3BLY8;H3BMF1;H3BN40;H3BUT5;Q8N9A8 ABBA01000883;ABBA01000884;ABBA01000885;AC007610;AF086322;AK095420;AK301610;AK307132;AK307309;AMYH02032007;BC022550;BC036683;BP259769;CH471092;CR933600;FJ516381;HY011229;NM_001281789;NM_153261;NR_104042;NR_104043 AAH22550;AAH36683;ACL36922;BAC04545;BAG63096;CAI45924;EAW82738;EAW82739;EAW82740;EAW82741;NP_001268718;NP_694993;Q8N9A8 Hs.59134 1689115;2155031;2181484 RH99225;SHGC-58241;SHGC-60593 C16orf69;DKFZp313D2416;FLJ38101;NEP1-R1;TMEM188;TMP125 nuclear envelope phosphatase 1-regulatory subunit 1;nuclear envelope phosphatase-regulatory subunit 1;transmembrane protein 188 APPROVED protein-coding ENSG00000205423 HGNC:26759 08784 REVIEWED 1603547 CNBD1 cyclic nucleotide binding domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (+)-catechin 8 8 8 q21.3 84072949 84589687 + 87878676 88394955 + 86866442 87487740 + 8554872 12477932;14702039;18825932;20379614;23568457 168975 H0YAN5;H0YC59;Q8NA66 ABBA01037366;ABBA01037367;ABBA01037368;ABBA01037369;ABBA01037370;ABBA01037371;AC011146;AC025089;AC025522;AC090572;AC093333;AC100799;AK093121;AMYH02018365;AMYH02018366;AMYH02018367;AMYH02018368;AMYH02018369;AMYH02018370;BC117326;BC117328;CH471060;KF458791;NM_173538;XM_006716512 AAI17327;AAI17329;BAC04062;EAW91648;NP_775809;Q8NA66;XP_006716575 Hs.246284 1334907;1728031;1750899;1753749;1761335;1786524;1852606;2129713;2155577 A008Q47;D8S1499;D8S1707;G32173;G63286;SHGC-104681;SHGC-106863;SHGC-145343;SHGC-89124 FLJ35802 OTTHUMP00000224710;cyclic nucleotide-binding domain-containing protein 1 protein-coding ENSG00000176571 HGNC:26663 08192 PROVISIONAL 1344598 CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008] 18 18 18 q22.3 69068799 69119423 + 72201692 72252261 + 74534457 74585025 + 737633;1580863;6480464;6907045;7207213;7207223 12477932;20851293;21393041 11329013;12473676;12975309;14560319;15489334;16046297;16335952;16965804;17121880;17205963;17601991;17601992;18753673;19373489;19577318;19929986;20299368;20332346;20379614;20460427;20711718;20865290;20971102;20979941;21573905;21832049;22706107;23029420;23342076;23402577;24566305;6616870;7116644;8889548 84735 J3KRP0;J3QQM7;Q96KN2 ABBA01056327;AC009704;AC116904;AJ417564;AK098369;AK131263;AK289916;AK303708;AK308716;AK314572;AMYH02034993;AX139747;AY358756;BC004271;BC110295;BC113512;BC117122;BG202268;BI597577;BM662490;CH471117;FP565322;H41544;KF459575;NG_033025;NM_032649 AAI10296;AAI13513;AAI17123;AAQ89116;ADR83013;BAF82605;BAG64692;CAC40015;CAD10388;EAW66559;EAW66560;EAW66561;EAW66562;NP_116038;Q96KN2 Hs.400613 1335010;1777137;1777907 D18S1161;D18S880;WI-15225 CN1;CPGL2;HsT2308;MGC102737;MGC10825;MGC142072 CNDP dipeptidase 1;OTTHUMP00000163751;beta-Ala-His dipeptidase;carnosinase 1;glutamate carboxypeptidase-like protein 2;serum carnosinase APPROVED protein-coding ENSG00000150656 HGNC:20675 09883;09894 609064 REVIEWED 1313855 CMTM7 CKLF-like MARVEL transmembrane domain containing 7 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. The protein encoded by this gene is highly expressed in leukocytes, but its exact function is unknown. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 p22.3 32370594 32433419 + 32433163 32496333 + 32391671 32454841 + 6480464 12477932;12782130;14702039;15489334;19946888;20400778;21139048;22363743;23893243;23981602 112616 F8WDZ3;H0YFU6;H0YGW1;Q96FZ5 ABBA01024941;AC098475;AF479263;AK055554;AK308878;AL832450;AMYH02006496;AMYH02006497;AY174113;BC010116;CH471055;DQ132881;NM_138410;NM_181472 AAH10116;AAN73041;AAO44955;AAZ57435;CAD38626;EAW64424;EAW64425;EAW64426;EAW64427;EAW64428;NP_612419;NP_852137;Q96FZ5 Hs.440494 1665693;1787946;2161756;2187582 SHGC-173738;SHGC-76805;STS-R72760;WI-17396 CKLFSF7;FLJ30992 CKLF-like MARVEL transmembrane domain-containing protein 7;OTTHUMP00000208833;OTTHUMP00000208834;OTTHUMP00000238463;chemokine-like factor super family 7;chemokine-like factor super family member 7 variant 2;chemokine-like factor superfamily 7;chemokine-like factor superfamily member 7 APPROVED protein-coding ENSG00000153551 HGNC:19178 06988 607890 REVIEWED 1321357 CMYA5 cardiomyopathy associated 5 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN negative regulation of calcineurin-NFAT signaling cascade (inferred); negative regulation of protein phosphatase type 2B activity (inferred); regulation of skeletal muscle adaptation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN costamere (inferred); INTERACTS WITH amiodarone; copper(2+) sulfate; 17beta-estradiol (ortholog) 5 5 5 q14.1 74885440 74997067 + 78985659 79096049 + 79689836 79800226 + 6480464;8554872 12477932;14688250;14702039;16407236;17353931;17872945;18344630;19140017;19343720;20634290;20838396;21295948;22863883;23335746;23528614;23778016;23818313 202333 Q8N3K9 ABBA01062026;ABBA01062027;ABBA01062028;AC008482;AC008496;AC026779;AC109488;AF177292;AF533705;AK092699;AK096453;AK123466;AL359338;AL831966;AL831968;AL831986;AL832021;AL832347;AL832368;AL832376;AL834252;AMYH02011652;AMYH02011653;AMYH02011654;AMYH02011655;AMYH02011656;AMYH02011657;AMYH02011658;BC020856;BC022422;BC022430;BC029434;BC046215;BC062664;BC063134;BC111529;BC111530;BX647452;BX647628;BX647646;CH471084;KF457927;NM_153610;XR_427707 AAD55265;AAH20856;AAH22422;AAH62664;AAH63134;AAI11530;AAI11531;AAQ09018;CAD38607;CAD38609;CAD38928;CAD91143;CAD91158;CAH10402;CAH10406;EAW95839;NP_705838;Q8N3K9 Hs.482625 1654459;1664922;1695304;1735432;1735454;1768575;1772379;1785332;1853976;2116828;2117864;2137458;2163395;2169040;2183588;2186667;5022586 D5S1566E;D5S1567E;D5S1581E;D5S1588E;G31148;RH16201;RH17877;RH48699;RH65363;RH65727;RH65763;SHGC-112005;SHGC-35966;SHGC-57442;SHGC-63480;SHGC-63481;SHGC-63483 C5orf10;DKFZp451G182;DKFZp451G223;SPRYD2;TRIM76 2310076E16Rik;OTTHUMP00000222299;SPRY domain-containing protein 2;cardiomyopathy-associated protein 5;dystrobrevin-binding protein 2;genethonin-3;myospryn;tripartite motif-containing 76;tripartite motif-containing protein 76 protein-coding ENSG00000164309 HGNC:14305 16728 612193 VALIDATED 1603715 CNGA4 cyclic nucleotide gated channel alpha 4 CNGA4 is a modulatory subunit of vertebrate cyclic nucleotide-gated membrane channels that transduce odorant signals (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM, Mar 2008] 11 11 11 p15.4 6379405 6384782 + 6256724 6267066 + 6234781 6245836 + 6480464;6893549;7204690;8554872 12087135;22435804 11739959;11764791;12477932;12649326;14702039;16344560;16382102 1262 B4DYQ8;Q8IV77 ABBA01028663;AC022762;AK122736;AK302551;AMYH02024265;AX465594;AX465595;BC040277;BC106935;BC106936;CH471064;DB238337;NM_001037329;XM_005252793;XM_006718144;XM_006718145;XM_006718146 AAH40277;AAI60170;BAG63820;CAD42376;CAD42377;EAW68736;NP_001032406;Q8IV77;XP_005252850;XP_006718207;XP_006718208;XP_006718209 Hs.434618 2218396 CNGA4_4600 CNCA2;CNG-4;CNG4;CNG5;CNGB2;MGC126168;MGC126169;OCNC2;OCNCBETA;OCNCb CNG channel alpha-4;OTTHUMP00000229567;cyclic nucleotide gated channel beta 2;cyclic nucleotide-gated cation channel alpha-4;cyclic nucleotide-gated channel alpha-4 APPROVED protein-coding ENSG00000132259 HGNC:2152 18724 609472 VALIDATED 1314094 CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008] 18 18 18 q22.3 69030559 69057800 + 72163500 72190689 + 74496265 74523454 + 737633;1580863;6480464;8554872 12477932 12473676;14702039;15489334;17220478;18753673;18781797;19056867;19373489;20199107;21139048;21573905;21890473;21906983;22128300;22410244;22863883;22939629;23000965;23396134;24654937;24816145;8889548 55748 J3KRD5;J3KRJ8;J3KSS4;J3KSV5;J3QKQ0;J3QKT2;J3QL02;J3QLU1;J3QQN6;J3QR27;J3QRA8;J3QRD0;J3QRH4;J3QRP4;Q96KP4;V9HWE5 ABBA01056327;AC009704;AF258592;AJ347717;AK001262;AK001692;AK001983;AK024471;AK092863;AK097155;AK298309;AK300904;AMYH02034993;AX523938;BC001375;BC003176;BM675304;BQ183399;CH471117;DC313148;DC392026;EU794600;NM_001168499;NM_018235;XM_005266728;XM_006722502;XM_006722503 AAG23795;AAH01375;AAH03176;ACJ13654;BAA91587;BAA91840;BAA92018;BAB15761;BAG53426;BAG60563;BAG62540;CAC69883;CAD56843;EAW66550;EAW66551;EAW66552;EAW66553;EAW66554;EAW66555;EAW66556;EAW66557;EAW66558;NP_001161971;NP_060705;Q96KP4;XP_005266785;XP_006722565;XP_006722566 Hs.149185 1855790;2120199;2125283;2158326;2173402;2175993;5014051;5017170;5022200;5094904 A002Y20;CNDP2;D18S928E;D8S2278;L18426;L29953;RH11622;RH18253;RH18324;SHGC-32075 CN2;CPGL;FLJ10830;FLJ35544;HEL-S-13;HsT2298;PEPA OTTHUMP00000163752;cytosolic non-specific dipeptidase;cytosolic nonspecific dipeptidase;epididymis secretory protein Li 13;glutamate carboxypeptidase-like protein 1;peptidase A APPROVED protein-coding ENSG00000133313 HGNC:24437 09893 169800 VALIDATED 1350274 CNFN cornifelin INVOLVED IN keratinization (inferred); FOUND IN cornified envelope; extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; diazinon 19 19 19 q13.2 39691960 39695233 - 42891171 42894444 - 42387019 42390292 - 1580863;6480464 12477932;15147942;15489334;9115270 84518 Q9BYD5 AB049591;ABBA01040847;AC011497;AK312080;AMYH02036150;BC101197;BC101198;CH471126;NM_032488;XM_005259332 AAI01198;AAI01199;BAB40656;BAG35016;EAW57134;NP_115877;Q9BYD5;XP_005259389 Hs.148590 PLAC8L2 cornefied envelope protein cornefilin protein-coding ENSG00000105427 HGNC:30183 16729 611764 VALIDATED 736824 CNGA2 cyclic nucleotide gated channel alpha 2 The protein encoded by this gene represents the alpha subunit of a cyclic nucleotide-gated olfactory channel. The encoded protein contains a carboxy-terminal leucine zipper that mediates channel formation. [provided by RefSeq, Jan 2010] X X X q27 151151573 151162391 + 150903218 150914036 + 151734746 151745564 + 1580863;6480464;6893549;7204690 12087135;22435804 12477932;12626507;14604981;14618336;15489334;16382102;16533895;7532814;9512030;9539801 1260 B3KXY3;Q16280 ABBA01037254;ABBA01037255;ABBA01037256;ABBA01037257;AF002992;AK128186;AMYH02040782;BC126302;BC126304;CH471169;NG_016352;NM_005140;S76067 AAD14207;AAI26303;AAI26305;BAG54645;EAW99409;NP_005131;Q16280 Hs.447360 1703896;2218394 CNGA2_4599;SHGC-83601 CNCA;CNCA1;CNG-2;CNG2;FLJ46312;OCNC1 CNG channel alpha-2;OCNCALPHA;OCNCa;OTTHUMP00000025880;cyclic nucleotide-gated cation channel 2;cyclic nucleotide-gated channel alpha-2;cyclic nucleotide-gated olfactory channel;cyclic-nucleotide-gated cation channel 2;cyclic-nucleotide-gated olfactory channel APPROVED protein-coding ENSG00000183862 HGNC:2149 08946 300338 REVIEWED 730948 CNGA1 cyclic nucleotide gated channel alpha 1 The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 4 4 4 p12 48386872 48463813 - 47937994 48018646 - 47935977 48016629 - 1300380;1580863;6480464;6893549;6907045;7240710;7204690;8547536;8547535;8699517;8554872 12087135;20212494;22435804;23701314;7479749 12362048;12388767;12432397;12467592;12693957;1372902;1372959;1379636;15570217;15713832;16382102;20301590;20801516;23032687;7532814;7683629;8889549 1259 D6R978;D6RCF1;P29973 ABBA01014339;AC096749;AC107068;AK292021;AMYH02009162;CH471069;M84741;NG_009193;NM_000087;NM_001142564;S42457;S76062;W89170;W93472;X64802;XM_005248049 AAA52010;AAB22778;AAD14206;AAI40400;AAY40919;BAF84710;CAA46027;EAW93048;EAW93049;NP_000078;NP_001136036;P29973;XP_005248106 Hs.1323 1654416;1659670;1791892;1791894;2125539;2137855;2141606;2184636;2218392 CNGA1_4598;D4S3172;D4S915;G34058;PMC129976P1;PMC129976P2;SHGC-59576;SHGC4-1079;WI-18943 CNCG;CNCG1;CNG-1;CNG1;RCNC1;RCNCa;RCNCalpha;RP49 CNG channel alpha-1;OTTHUMP00000218675;OTTHUMP00000223313;OTTHUMP00000223314;cGMP-gated cation channel alpha-1;cyclic nucleotide-gated cation channel 1;cyclic nucleotide-gated channel alpha-1;cyclic nucleotide-gated channel, photoreceptor;interleukin-1 homologue;rod photoreceptor cGMP-gated channel subunit alpha APPROVED protein-coding ENSG00000198515 HGNC:2148 00445 123825;613756 REVIEWED 732601 CNGB1 cyclic nucleotide gated channel beta 1 In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] 16 16 16 q13 42413576 42502338 - 57916244 58005020 - 57882340 57979251 - 734793;6480464;6893549;6907045;7240710;7204690;8547536;8547535;8699517;8554872 11379879;12087135;20212494;22435804;23701314 10466724;11074001;11641407;12048242;12107411;15557452;16159877;16169070;16382102;1821816;19299621;20126465;20201926;20301590;20467438;20591486;20801516;21123569;23201897;7526403;7590744;7682292;8766832;8889548;9535905 1258 AAB32607;H3BQC3;H3BQW3;Q14028 ABBA01025285;ABBA01025286;ABBA01025287;AC010543;AF042498;AMYH02032112;BM672421;BM678849;BQ638084;CH471092;EL945866;L15296;L15297;NG_016351;NM_001135639;NM_001286130;NM_001297;U18945;U58837;XM_006721134 AAA65619;AAA65620;AAA91633;AAB32607;AAB63387;AAC04830;AAI40365;AAI56723;EAW82957;EAW82958;NP_001129111;NP_001273059;NP_001288;Q14028;XP_006721197 Hs.147062 1727309;1777444;1853092;2190879 G63062;L17694;MARC_10217-10218:998404657:1;SHGC-32528 CNCG2;CNCG3L;CNCG4;CNG-4;CNG4;CNGB1B;GAR1;GARP;GARP2;RCNC2;RCNCb;RP45 CNG channel beta-1;OTTHUMP00000206726;RCNCbeta;cyclic nucleotide gated channel (photoreceptor), cGMP gated 3 (gamma)-like;cyclic nucleotide-gated cation channel 4;cyclic nucleotide-gated cation channel beta-1;cyclic nucleotide-gated cation channel gamma;cyclic nucleotide-gated cation channel modulatory subunit;cyclic nucleotide-gated channel beta-1;glutamic acid-rich protein;glutamic-acid-rich protein APPROVED protein-coding ENSG00000070729 HGNC:2151 07204 600724;613767 REVIEWED 1352659 CNIH2 cornichon family AMPA receptor auxiliary protein 2 The protein encoded by this gene is an auxiliary subunit of the ionotropic glutamate receptor of the AMPA subtype. AMPA receptors mediate fast synaptic neurotransmission in the central nervous system. This protein has been reported to interact with the Type I AMPA receptor regulatory protein isoform gamma-8 to control assembly of hippocampal AMPA receptor complexes, thereby modulating receptor gating and pharmacology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 11 11 11 q13.2 63367976 63371496 + 66045672 66051685 + 66278201 66284214 + 737633;1580863;6480464 12477932 15489334;17207965;17229890;21172611;21343286;21543622;21926972;22211840;22815494;23103966 254263 E9PIT8;E9PJQ8;E9PS15;Q6PI25 ABBA01024086;ABBA01024087;ABBA01024088;AI928591;AMYH02024974;AMYH02024975;AP001107;AY726585;BC047953;BM547951;CH471076;DR760677;NM_182553;NR_073078;NR_073079 AAH47953;AAI60083;ADQ32996;EAW74508;NP_872359;Q6PI25 Hs.437072 1850369 WI-14316 CNIH-2;Cnil;MGC50896 OTTHUMP00000234423;OTTHUMP00000234424;cornichon homolog 2;cornichon-like protein APPROVED protein-coding ENSG00000174871 HGNC:28744 13078 611288 REVIEWED 733295 CNGA3 cyclic nucleotide gated channel alpha 3 This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 93166338 93218784 + 98962618 99015064 + 98346155 98398601 + 734792;1580863;6480464;6893549;7240710;7204690;8699517;8554872;9068452 11536077;12087135;18521937;22435804 10888875;12432397;12477932;14757870;15024024;15134637;15489334;15712225;15743887;15815621;16319819;16382102;16961972;17018579;17286855;17620599;17693388;18445228;18636117;19592100;20079539;20301591;20454696;20506298;20549516;20801516;21267001;21268679;21901789;21911670;21912902;22493484;23362848;23552282;23677796;23735507;24675082;24676353;7532814;9158143;9517456;9662398;9721202 1261 E9PF93;Q16281 ABBA01073966;ABBA01073967;AC092675;AF065314;AK131300;AK308149;AMYH02004384;BC096298;BC096299;BC096300;CH471127;DQ067459;DQ067460;DQ067461;DQ426863;DR002103;NG_009097;NM_001079878;NM_001298;S76069;XM_006712243 AAC17440;AAD14208;AAH96298;AAH96299;AAH96300;AAY24181;BAD18468;EAX01911;NP_001073347;NP_001289;Q16281;XP_006712306 Hs.234785 2109171 CNGA3_8266 ACHM2;CCNC1;CCNCa;CCNCalpha;CNCG3;CNG-3;CNG3 CNG channel alpha-3;OTTHUMP00000161120;OTTHUMP00000203132;OTTHUMP00000203133;cone photoreceptor cGMP-gated channel alpha subunit;cone photoreceptor cGMP-gated channel subunit alpha;cyclic nucleotide-gated cation channel alpha-3;cyclic nucleotide-gated channel alpha-3 APPROVED protein-coding ENSG00000144191 HGNC:2150 02504 216900;600053 REVIEWED 733498 CNBP CCHC-type zinc finger, nucleic acid binding protein This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q21 127317738 127333863 - 128886658 128902810 - 129167815 129183967 - 6480464;8699517 11486088;12477932;12857921;14702039;15261229;15342556;15476170;15489334;15652222;16341674;16344560;16376058;16624843;17068784;17327219;17353931;17672918;17725712;18804219;18975316;19738201;20102514;20174632;20301639;20360068;20616365;20971734;21204798;21224892;21232131;21277287;22332444;22407275;2249857;22505724;22623428;22863883;23000965;23285195;23398456;23602568;23642268;23774591;24250222;24457600;24594223;24726729;24816145;2562787;7590281;7896269;9921867 7555 D6RAT4;P62633 ABBA01020929;ABBA01020930;AC108673;AC135587;AF388525;AF388526;AK021693;AK054592;AK292119;AK298154;AK314380;AMYH02007634;AY329622;AY436367;BC000288;BC014911;BC093058;BM786378;BP267181;BT019613;BU616793;CH471052;DA606481;DB027227;DQ091187;DQ092366;DQ092367;M28372;NG_011902;NM_001127192;NM_001127193;NM_001127194;NM_001127195;NM_001127196;NM_003418;U19765 AAA61975;AAA91782;AAH00288;AAH14911;AAH93058;AAR11855;AAR89462;AAV38419;AAY89856;AAY96754;AAY96755;BAB70769;BAF84808;BAG37006;BAG60429;EAW79271;EAW79272;EAW79273;EAW79274;EAW79275;EAW79276;EAW79277;NP_001120664;NP_001120665;NP_001120666;NP_001120667;NP_001120668;NP_003409;P62633 Hs.518249 1338641;1341329;1681949;1728935;1735138;1792722;2118203;2134471;2148516;2163009;5015861;5037552;7185938 A008K17;Cnbp;D10S16;D3S1541;D3S1589;D3S2800E;D8S2279;PMC15869P1;RH47204;RH98983;SHGC-32794;SHGC-77307 CNBP1;DM2;FLJ11631;PROMM;RNF163;ZCCHC22;ZNF9 OTTHUMP00000217105;OTTHUMP00000217106;OTTHUMP00000217107;OTTHUMP00000217108;OTTHUMP00000217109;OTTHUMP00000233223;OTTHUMP00000233224;OTTHUMP00000233225;cellular nucleic acid binding protein;cellular nucleic acid-binding protein;erythroid differentiation-related;sterol regulatory element-binding protein;zinc finger protein 273;zinc finger protein 9 (a cellular retroviral nucleic acid binding protein) APPROVED protein-coding HGNC:13164 00311 116955 REVIEWED 1352344 CNGB3 cyclic nucleotide gated channel beta 3 This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010] 8 8 8 q21.3 83780714 83950463 - 87586163 87755903 - 86573935 86743675 - 1600870;1580863;6480464;6893549;7240710;7204690;8554872;8699517;9068446;9068450 10958649;12087135;17265047;21576125;22435804 10330355;10888875;12477932;12730238;12815043;1347967;14757870;15134637;15161866;15223812;15657609;15712225;16319819;16379026;16382102;17018579;17651254;17652762;19592100;19767295;20079539;20301591;20378608;20379614;20454696;20801516;21267001;23362848;23805033;23940504;24664743;24676353 54714 H0YAZ4;Q9NQW8 ABBA01037364;ABBA01037365;AC013751;AC090572;AF228520;AF272900;AL713036;AMYH02018363;BC150601;BX118844;CH471060;NG_016980;NM_019098;XM_006716593 AAF80179;AAF86274;AAI50602;EAW91644;EAW91645;EAW91646;NP_061971;Q9NQW8;XP_006716656 Hs.154433 1341275;1664383;1855014;1856422 D8S167;G17220;RH66511;RH66512 ACHM1;ACHM3;RMCH;RMCH1 CNG channel beta-3;OTTHUMP00000224709;cone photoreceptor cGMP-gated cation channel beta-subunit;cyclic nucleotide-gated cation channel beta-3;cyclic nucleotide-gated cation channel modulatory subunit APPROVED protein-coding ENSG00000170289 HGNC:2153 05468 248200;262300;605080 REVIEWED 1343893 CNIH3 cornichon family AMPA receptor auxiliary protein 3 ENCODES a protein that exhibits channel regulator activity (inferred); INVOLVED IN regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (ortholog); dendritic shaft (ortholog); postsynaptic membrane (ortholog); INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; amiodarone 1 1 1 q42.12 197994781 198118853 + 224734563 224928269 + 224546861 224740567 + 1580863;6480464;8554872 12477932;14702039;15489334;16710414;17207965;20379614;23103966;8619474;9110174 149111 Q8TBE1 ABBA01009683;ABBA01009684;AC096537;AF070524;AK096312;AL596330;AMYH02002778;AMYH02002779;AMYH02002780;BC022780;CH471098;NM_152495;XM_005273075 AAH22780;ADQ31813;BAC04760;EAW69732;NP_689708;Q8TBE1;XP_005273132 Hs.731723 1658842;1710388;1712775;1715041;1726705;2130114;2157361;2157574;2157733;5128096 A004U18;AL009588;AL010031;B361YB5;G62739;RH119474;RH120100;SHGC-155979;SHGC-76414;SHGC-82466 CNIH-3;FLJ38993 OTTHUMP00000035751;cornichon homolog 3 APPROVED protein-coding ENSG00000143786 HGNC:26802 08799 PROVISIONAL 1323800 CNIH1 cornichon family AMPA receptor auxiliary protein 1 INVOLVED IN immune response (inferred); intracellular signal transduction (inferred); signal transduction (inferred); FOUND IN endoplasmic reticulum (inferred); Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; cobalt dichloride 14 14 14 q22.2 34943177 34957678 - 54890279 54908322 - 54425311 54441531 - 1580863;6480464 10209299;11042152;12477932;12975309;14702039;15489334;16303743;17607000;22211840;23103966;24250222 10175 A8MVW4;B2R4P1;G3V3B2;G3V474;G3V4K0;G3V5P8;G3V5Q6;O95406 ABBA01018195;AF070654;AF104398;AK022936;AK074781;AK307074;AK311897;AL359792;AMYH02029218;AY358635;BC103741;BG503618;BQ233425;BQ937490;BX248284;CH471061;CQ782718;NM_005776;XR_245653 AAC98388;AAD20960;AAI03742;AAQ88998;BAG34838;BAG52000;CAD62612;CAF85952;EAW80635;EAW80636;EAW80637;NP_005767;O95406 Hs.294603;Hs.594424 1659668;1689177;1690506;1797414 CNIH_2196;RH81043;RH93774;SHGC-64338 CNIH;CNIH-1;CNIL;MGC117156;TGAM77 OTTHUMP00000178994;OTTHUMP00000244846;OTTHUMP00000244848;OTTHUMP00000244849;OTTHUMP00000244851;T-cell growth-associated molecule 77;cornichon homolog;cornichon-like;protein cornichon homolog 1 APPROVED protein-coding HGNC:19431 16730 611287 VALIDATED 1350323 CNKSR2 connector enhancer of kinase suppressor of Ras 2 This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X p22.12 25513670 25793712 + 21392532 21672813 + 21374414 21654695 + 1580863;6480464;8554872 10048485;10207009;12390249;12477932;14597674;14702039;15028221;15342556;15489334;15772651;16344560;16637659;17043677;17353931;18029348;18287031;18790760;19056867;19260141;19563921;19615732;7757816;8889548 22866 B3KPN2;Q8WXI2 AB020709;ABBA01071955;ABBA01071956;ABBA01071957;ABBA01071958;ABBA01071959;ABBA01071960;ABBA01071961;ABBA01071962;ABBA01071963;ABBA01071964;ABBA01071965;ABBA01071966;ABBA01071967;ABBA01071968;ABBA01071969;ABBA01071970;ABBA01071971;ABBA01071972;ABBA01071973;ABBA01071974;ABBA01071975;ABBA01071976;ABBA01071977;ABBA01071978;ABBA01071979;ABBA01071980;ABBA01071981;ABBA01071982;ABBA01071983;ABBA01071984;ABBA01071985;AF418269;AF418270;AI817268;AK056549;AK124258;AK294728;AL772392;AL807781;AL928874;AMYH02039000;BC092447;BC126121;BC136289;BC143839;BM692904;BP200041;CH471074;DA067208;DA123093;F09543;NG_016266;NM_001168647;NM_001168648;NM_001168649;NM_014927;T65396;XM_005274468;XM_005274469;Z40257 AAI26122;AAI36290;AAI43840;AAL60502;AAL60503;BAA74925;BAG51744;BAG57875;EAW98976;EAW98977;EAW98978;NP_001162118;NP_001162119;NP_001162120;NP_055742;Q8WXI2;XP_005274525;XP_005274526 Hs.555917 1687289;1723685;1788928;1791195;1791203;1791207;2128414;2159585;2218398;5106104 20C20_SP6;264P13_T7;360G13_SP6;CNK2;CNKSR2_4601;RH123085;RH15676;RH45991;RH46327;UniSTS:224320 CNK2;KIAA0902;KSR2 CNK homolog protein 2;MAGUIN;OTTHUMP00000023041;OTTHUMP00000023042;connector enhancer of KSR 2;connector enhancer of KSR2;membrane-associated guanylate kinase-interacting protein APPROVED protein-coding ENSG00000149970 HGNC:19701 06473 300724 REVIEWED 5013928 CNN2P1 calponin 2 pseudogene 1 22 22 22 q12.2 14241991 14242908 - 30442265 30443182 - 30046276 30047193 - 646467 ABBA01055289;AC003071;AMYH02038210;NG_022869 pseudo HGNC:39526 INFERRED 1606011 CNIH4 cornichon family AMPA receptor auxiliary protein 4 INVOLVED IN intracellular signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH 2-methylcholine; 4-phenylbutyric acid; all-trans-retinoic acid 1 1 1 q42.11 197735537 197754630 + 224544513 224567154 + 224356811 224379452 + 6480464;8554872 11042152;11076863;11230166;11256614;12477932;15489334;15489336;16196087;16344560;16381901;17353931;21042317;21139048;8125298 29097 A6NJ96;A6NLH6;Q9P003 ABBA01009696;ABBA01009697;ABBA01009698;AC099790;AF161512;AK024569;AK222634;AK289973;AK312064;AL136930;AMYH02002773;BC000573;BC039037;BI752106;BQ051754;BQ575976;BX649076;CH471098;CS072304;DA185135;HY018269;HY145928;JA738801;NM_001277197;NM_001277198;NM_001277199;NM_001277200;NM_014184;NR_102347;XM_006711768 AAF29127;AAH00573;ABM82827;ABM86013;BAD96354;BAF82662;BAG35000;CAB66864;CAI93442;CAL37844;CAL38029;CAL38379;CCF77053;EAW69717;EAW69718;EAW69719;NP_001264126;NP_001264127;NP_001264128;NP_001264129;NP_054903;Q9P003;XP_006711831 Hs.445890 1668238;1769219;2145655;2174186;2179079;5037552 D8S2279;RH69714;SHGC-36449;SHGC-76415;SHGC-76420;STS-N98780 CNIH-4;HSPC163 OTTHUMP00000035752;OTTHUMP00000035753;OTTHUMP00000035755;cornichon homolog 4 APPROVED protein-coding ENSG00000143771 HGNC:25013 13709 VALIDATED 1323565 CNKSR1 connector enhancer of kinase suppressor of Ras 1 This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 p36.11 24900351 24912738 + 26503981 26516375 + 26173472 26189884 + 1580863;6480464;6484113;5133679;8554872 20889352 10557308;12477932;14702039;14724641;14749388;15075335;15231748;15489334;15670823;15753034;15845549;16189514;16289034;16344560;16825666;16964243;17496912;18287031;18821524;19718030;20197385;20383191;20634316;21320536;8125298;9427625;9814705 10256 B4DXN4;E9PIE0;E9PS82;G3V160;H0YDP5;Q53GM7;Q969H4 AB209335;ABBA01034899;AF100153;AK001900;AK222817;AK222904;AK292646;AK296814;AK302056;AL355877;AL391650;AMYH02000555;BC011604;BC012797;BT006900;CH471059;DA445069;DA868484;DR159101;NM_001297647;NM_001297648;NM_006314;NR_023345;XM_006710279;XM_006710280;XM_006710281;XM_006710282 AAC80558;AAH11604;AAH12797;AAP35546;ABM83167;ABM86367;BAD92572;BAD96537;BAD96624;BAF85335;BAG59387;BAG63446;EAX07840;EAX07841;EAX07842;NP_001284576;NP_001284577;NP_006305;Q969H4;XP_006710342;XP_006710343;XP_006710344;XP_006710345 Hs.16232 1672198;1732890;2107941;2163704;5019647 A006D29;CNKSR1_9077;D1S1309;G32327;STS-R48282 CNK;CNK1;KSR;hCNK1 CNK homolog protein 1;OTTHUMP00000008767;OTTHUMP00000035105;OTTHUMP00000229205;connector enhancer of KSR 1;connector enhancer of KSR-like APPROVED protein-coding ENSG00000142675 HGNC:19700 603272 REVIEWED 1316799 CNKSR3 CNKSR family member 3 INVOLVED IN negative regulation of ERK1 and ERK2 cascade (ortholog); negative regulation of peptidyl-serine phosphorylation (ortholog); positive regulation of sodium ion transport (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 6 6 6 q25.2 155460772 155566082 - 154726433 154831753 - 154405299 154510619 - 6480464;8554872 12477932;14702039;15509766;19567370;20379614;21890473;22085542;22451204;22457146;22797727;22851176;23357503;24250222 154043 C9IZX4;C9JN62;Q5T4Y7;Q5T4Y8;Q6P9H4 ABBA01025594;AK055911;AK309680;AL357075;AMYH02014764;AMYH02014765;AMYH02014766;AMYH02014767;AMYH02014768;AY328891;AY328892;AY328893;AY328894;BC060761;CH471051;NM_173515 AAH60761;AAQ92306;AAQ92307;AAQ92308;AAQ92309;BAB71044;EAW47699;NP_775786;Q6P9H4 Hs.16064 1757727;1758071;1857757;2184594;5114378 RH35924;RH79081;SHGC-146366;SHGC-147273;SHGC-33591 CNK3;FLJ31349;MAGI1;RP11-486M3.1 CNK homolog protein 3;OTTHUMP00000017466;OTTHUMP00000212053;OTTHUMP00000212054;connector enhancer of KSR 3;connector enhancer of kinase suppressor of ras 3;maguin-like protein;membrane associated guanylate kinase interacting protein-like 1;membrane associated guanylate kinase, WW and PDZ domain containing 1;membrane-associated guanylate kinase-interacting protein-like 1 protein-coding HGNC:23034 14349 VALIDATED 5013932 CNN2P2 calponin 2 pseudogene 2 9 9 p12 42491165 42492067 - 40346147 40347049 - 642888 AL591471;AMYH02020061;NG_021614 pseudo HGNC:39527 INFERRED 5013929 CNN2P10 calponin 2 pseudogene 10 1 1 1 q24.1 139870652 139871561 + 166765503 166766412 + 166796266 166797175 + 646693 ABBA01047258;AL008639;AMYH02002078;NG_022816 1696534 SHGC-78131 pseudo HGNC:39535 INFERRED 5130643 CNN2P12 calponin 2 pseudogene 12 13 13 q11 19300854 19301582 + 18726714 18727442 + 100131550 ABBA01068529;AC245149;AL391382;NG_021966 1748423 G64223 pseudo HGNC:39834 INFERRED 731921 CNN1 calponin 1, basic, smooth muscle ENCODES a protein that exhibits actin binding (inferred); calmodulin binding (inferred); INVOLVED IN actomyosin structure organization (inferred); regulation of smooth muscle contraction (inferred); FOUND IN cytoskeleton; focal adhesion; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 19 19 19 p13.2-p13.1 11544322 11555881 + 11649579 11661139 + 11538764 11550324 + 1580863;6480464 10220577;11920541;12033495;12477932;12480535;12606518;14550641;15206927;15489334;17207965;17550897;17556051;17707120;19391217;19913121;20530411;20584679;20628086;21051832;21139048;21326813;2161834;21817093;23382691;23731614;24350264;2455687;24561123;8125298;8526917;8616889;8864837;9001224;9049805;9312127;9332369;9645345 1264 B4DUX6;B7Z7E1;K7ENC5;K7EQ72;K7ER02;K7ERK4;K7ERM8;K7ESJ2;P51911;V9HWA5 ABBA01029840;AC008481;AK223234;AK300837;AK301888;AK313255;AK316406;AMYH02035530;BC022015;BC036307;CH471106;D17408;D85611;D86058;EU794601;NM_001299;S80560;U37019;XM_005259741;XM_006722648 AAB35751;AAC51780;AAH22015;AAH36307;ACJ13655;ADQ32707;BAA04231;BAA12983;BAA19538;BAD96954;BAG36065;BAG62488;BAH13577;BAH14777;EAW84228;EAW84229;NP_001290;P51911;XP_005259798;XP_006722711 Hs.465929 1671552;1852492;2108731;5021946;5492015 CNN1_8267;Cnn1;RH78572;STS-N93364;ksks67 HEL-S-14;SMCC;Sm-Calp basic calponin;calponin H1, smooth muscle;calponin-1;calponins, basic;epididymis secretory protein Li 14 protein-coding ENSG00000130176 HGNC:2155 02884 600806 VALIDATED 1350375 CNN2 calponin 2 The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 958638 969897 + 1026274 1039064 + 1026299 1039065 + 1580863;6480464 10830953;12388067;12477932;12665801;14702039;16236705;19322201;19738201;19946888;21139048;21890473;21906983;21963094;22505724;22863883;22939629;23000965;23398456;23463506;24285540;24816145;8125298;8889548;8889829;9001224;9049805 1265 B4DDF4;B4DHU5;B4DUT8;H3BQH0;H3BVI6;K7ES69;Q99439;U3KPS3 ABBA01002617;ABBA01002618;AC004528;AC011558;AK024835;AK057960;AK093630;AK126391;AK222924;AK293171;AK295271;AK297774;AK300788;AMYH02035131;AY927514;BC141818;BC141833;BC148264;BM976651;BQ876824;BQ919304;BU844400;CH471139;CR541810;CR541831;D83735;D86059;NM_004368;NM_201277 AAI41819;AAI41834;AAI48265;BAA12090;BAA20887;BAD96644;BAG54322;BAG56715;BAG58257;BAG60119;BAG62450;CAG46609;CAG46630;EAW69565;EAW69566;EAW69567;EAW69568;EAW69569;EAW69570;NP_004359;NP_958434;Q99439 Hs.651512 1771802;1791121;2107945;5015619;5015881;5016478;5022578;5022651;5037552;5109281 CNN2_8268;D11S2921;D11S3114;D1S1423;D1S1425;D8S2279;GDB:335751;GDB:434012;REU1927;RH70510 calponin H2, smooth muscle;calponin-2;neutral calponin APPROVED protein-coding ENSG00000064666 HGNC:2156 03847 602373 REVIEWED 5490908 CNN2P11 calponin 2 pseudogene 11 2 2 95391419 95391680 - 94725674 94725935 - 100689296 ABBA01003588;AC073464;AL845331;AMYH02004297;NG_029997 pseudo HGNC:39536 INFERRED 5013921 CNN2P5 calponin 2 pseudogene 5 9 9 q13 40693115 40694015 + 66345261 66346165 + 100133295 AL591441;NG_021657 pseudo HGNC:39530 INFERRED 5013926 CNN2P4 calponin 2 pseudogene 4 9 9 9 p11.2 40693115 40694015 + 43997830 43998730 + 42972389 42973289 - 647507 ABBA01033788;AL591441;AMYH02020733;CR788268;CR848007;NG_021653 CNN2P5 pseudo HGNC:39529 INFERRED 5013934 CNN2P3 calponin 2 pseudogene 3 9 9 q21.11 69498585 69499487 - 64486167 64487069 - 392343 AC244112;AL773524;NG_021622 pseudo HGNC:39528 INFERRED 5013933 CNN2P6 calponin 2 pseudogene 6 3 3 3 p23 31160133 31161028 - 31223246 31224141 - 31181754 31182649 - 339897 ABBA01024959;AC098647;AC115283;AMYH02006481;NG_022198 pseudo HGNC:39531 INFERRED 4107117 CNN3P1 calponin 3, acidic pseudogene 1 6 6 6 p25.1 7764696 7765627 + 6534930 6535861 + 6534697 6535628 + 643875 ABBA01022019;AL137181;AMYH02013048;NG_022343 pseudo HGNC:38666 INFERRED 5013935 CNN2P7 calponin 2 pseudogene 7 21 21 21 q11.2 415292 416219 - 15199018 15199945 + 13826697 13827624 + 391266 ABBA01057063;AC245051;AL109748;NG_021996 pseudo HGNC:39532 INFERRED 5013937 CNN2P8 calponin 2 pseudogene 8 2 2 2 q11.1 89753483 89754384 + 95403083 95403984 + 94737338 94738239 + 205272 ABBA01003588;AC073464;AL845331;AMYH02004297;NG_021570 pseudo HGNC:39533 INFERRED 5013930 CNN2P9 calponin 2 pseudogene 9 6 6 6 q21 111926050 111926955 + 111179442 111180347 + 110858239 110859144 + 441166 ABBA01026104;AL365206;AMYH02014294;CH471051;NG_022902;Z84480 EAW48310 1702412 GDB:192496 pseudo HGNC:39534 INFERRED 731963 CNN3 calponin 3, acidic This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. [provided by RefSeq, Jul 2008] 1 1 1 p22-p21 93616973 93647200 - 95362507 95392735 - 94896949 94927223 - 1580863;6480464 10457177;11591653;12033495;12477932;15146197;15206927;15489334;16344560;16710414;17081983;17620012;17825283;18927281;20379614;20861310;21103663;21139048;21890473;21906983;22119193;23000965;23362303;23398456;23545751;25015289;8526917;8889548 1266 E9PDU6;Q15417 ABBA01045502;ABBA01045503;AC093429;AC105942;AK294141;AK298145;AK312370;AK316398;AL359554;AMYH02001509;BC025372;BM669529;BU149686;BU608403;CA944820;CH471097;CN418286;CR541848;DB030660;DC422152;DR157009;NM_001286055;NM_001286056;NM_001839;S80562;XM_006710335 AAB35752;AAH25372;ABM83939;ABM87257;BAG35288;BAG57467;BAG60421;BAH14769;CAC36092;CAC36093;CAG46646;EAW73029;NP_001272984;NP_001272985;NP_001830;Q15417;XP_006710398 Hs.483454;Hs.736112 1770554;1849248;2171709 SHGC-75183;SHGC-75189;SHGC-75190 OTTHUMP00000012470;OTTHUMP00000012471;calponin, acidic isoform;calponin-3;dJ639P13.2.2 (acidic calponin 3) APPROVED protein-coding ENSG00000117519 HGNC:2157 03848 602374 VALIDATED 1318672 CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 ENCODES a protein that exhibits adenyl nucleotide binding (inferred); INVOLVED IN ion transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; 17alpha-ethynylestradiol (ortholog) 10 10 10 q24.2 94825687 94890914 + 101088856 101154087 + 99329099 99394330 + 6480464;8554872 12477932;12657465;14702039;14723793;16344560;16385451;20379614;21393841;22412388 26507 B7Z5S3;Q9NRU3 ABBA01063250;AF169226;AK056194;AK296545;AK299346;AK308326;AK308618;AK310486;AL137536;AL391684;AMYH02023634;AMYH02023635;BC098103;BC098134;BC098279;BC098307;BI868774;CH471066;DA326933;DA758649;DB067736;JF267782;NM_020348;XM_005269692;XM_006717757;XM_006717758;XM_006717759;XR_428704 AAF86357;AAH98103;AAH98134;AAH98279;AAH98307;ADZ54348;BAG51644;BAG59169;BAH13009;CAB70798;EAW49870;EAW49871;NP_065081;Q9NRU3;XP_005269749;XP_006717820;XP_006717821;XP_006717822 Hs.274579 1646888;1743297;2167619;5022578 D1S1423;GDB:314697;STS-H20551;WI-21848 ACDP1;CLP-1;FLJ31632 OTTHUMP00000020253;ancient conserved domain protein 1;ancient conserved domain-containing protein 1;cyclin M1;cyclin-M1;metal transporter CNNM1 APPROVED protein-coding ENSG00000119946 HGNC:102 07417 607802 VALIDATED 1317403 CNNM3 cyclin and CBS domain divalent metal cation transport mediator 3 ENCODES a protein that exhibits adenyl nucleotide binding (inferred); INVOLVED IN ion transport (inferred); FOUND IN membrane; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; cyclosporin A 2 2 2 p12-p11.2 91921772 91941256 + 97480950 97501121 + 96815214 96835384 + 6480464 12477932;12657465;14702039;16189514;17353931;19060904;19322201;19946888;20932654;21139048;21393841;21875946;21890473;21903422;21906983;21963094;21987572;21988832;22053931;22268729;23000965;23455922;23798571;24250222;24632616 26505 Q68CV4;Q8NE01 ABBA01036575;AC092636;AF216965;AK000025;AK126847;AK128698;AMYH02004336;BC007199;BC018604;BC022944;BC037272;BE465992;BE676454;CH471207;CR749702;NM_017623;NM_199078;XM_005263917;XM_005263918;XM_006712418;XR_244887 AAF86377;AAH07199;AAH22944;AAH37272;AAY14964;BAA90891;BAG54379;CAH18480;EAW71334;EAW71335;EAW71336;EAW71337;NP_060093;NP_951060;Q8NE01;XP_005263974;XP_005263975;XP_006712481 Hs.711617 1678995;1734750;2110325;2149356;5022588 CNNM3_9489;D2S1539E;D5S1597E;RH70717;RH92358 ACDP3;DKFZp434I1016;FLJ20018 OTTHUMP00000161090;OTTHUMP00000161091;ancient conserved domain protein 3;ancient conserved domain-containing protein 3;cyclin M3;cyclin-M3;metal transporter CNNM3 APPROVED protein-coding HGNC:104 07419 607804 VALIDATED 1317777 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 10 10 10 q24.32 98418329 98578461 + 104678075 104838344 + 102918318 103078587 + 6480464;8699517;7240710;8554872 12477932;12657465;14702039;16385451;19430483;19915575;20364137;20379614;20479155;20519162;21139048;21378988;21378990;21393841;21397062;21572416;21875946;21890473;21926974;22399287;22688191;23000965;23027747;23453885;23535732;23793025;23894747;23974872;24160291;24262325;24311551;24699222 54805 Q9H8M5 ABBA01063121;ABBA01063122;ABBA01063123;ABBA01063124;ABBA01063125;ABBA01063126;ABBA01063127;ABBA01063128;ABBA01063129;ABBA01063130;AF216962;AK000071;AK023066;AK023479;AK090785;AL139817;AL356608;AMYH02023714;AMYH02023715;AMYH02023716;AMYH02023717;AMYH02023718;AMYH02023719;AMYH02023720;BC021222;BU621540;BX113753;CH471066;NG_031932;NM_017649;NM_199076;NM_199077;XM_005269933;XM_006717908 AAF86374;AAH21222;BAA90926;BAB14386;BAB14585;EAW49659;EAW49660;EAW49661;EAW49662;EAW49663;EAW49664;NP_060119;NP_951058;NP_951059;Q9H8M5;XP_005269990;XP_006717971 Hs.643509 1335599;1652774;1660992;1731070;1731076;1731106;1857730;2109173;5014063;5015881 A006S48;CNNM2_9820;D10S1738;D10S284;D10S287;D10S304;D15S1390;FB7B11;GDB:335751;RH77757 ACDP2 OTTHUMP00000020387;OTTHUMP00000020388;OTTHUMP00000020389;ancient conserved domain protein 2;ancient conserved domain-containing protein 2;cyclin M2;cyclin-M2;metal transporter CNNM2 APPROVED protein-coding ENSG00000148842 HGNC:103 07418 607803;613882 REVIEWED 6481313 CNOT10-AS1 CNOT10 antisense RNA 1 100874109 AC138972 APPROVED ncrna HGNC:41031 1313679 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010] 2 2 2 q11 91866817 91917794 + 97426639 97477628 + 96760902 96811891 + 6480464;7240710;8554872;8699517 10997877;12461695;12477932;12657465;14702039;15173235;15840172;17353931;18711365;19200525;19200527;21139048;21145461;21393841;21728811;21926972;24194943;24339795;3236352 26504 Q6P4Q7 AB046812;ABBA01036576;ABBA01036577;ABBA01036578;ABBA01036579;ABBA01036580;ABBA01036581;ABBA01036582;AC092636;AF202777;AK022833;AK095065;AK293915;AL833905;AMYH02004335;AMYH02004336;BC063295;CH471207;NG_016608;NM_020184;XM_005263914;XM_005263915 AAF86370;AAH63295;AAY14963;BAB13418;BAB14266;BAH11626;CAD38761;EAW71340;NP_064569;Q6P4Q7;XP_005263971;XP_005263972 Hs.175043 1338287;1688746;2122734;2176403;2190469 AA859983;D2S2187;RH65684;RH92382;WI-20948 ACDP4;FLJ37746;FLJ42791;KIAA1592 OTTHUMP00000161092;ancient conserved domain protein 4;ancient conserved domain-containing protein 4;cyclin M4;cyclin-M4;metal transporter CNNM4 APPROVED protein-coding ENSG00000158158 HGNC:105 07420 217080;607805 REVIEWED 1348103 CNOT11 CCR4-NOT transcription complex, subunit 11 INVOLVED IN gene expression (inferred); gene silencing by RNA (inferred); mRNA metabolic process (inferred); FOUND IN CCR4-NOT complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; paracetamol 2 2 2 q11.2 96073332 96090764 + 101869345 101886778 + 101252883 101270316 + 6480464 10497265;12477932;14702039;15489334;15815621;19322201;19558367;20360068;21139048;21890473;21906983;21963094;22505724;23232451;23303381;23602568;24250222;24816145 55571 H7C0C7;Q9UKZ1 ABBA01073912;AC013722;AF103798;AK024221;AMYH02004424;BC018664;BC064421;BM923954;BX394182;CH471127;NM_017546 AAF02418;AAH18664;AAH64421;AAY15088;BAG51272;EAX01821;NP_060016;Q9UKZ1 Hs.744080 1646724;2168252 RH16649;RH66468 C2orf29;C40 CCR4-NOT transcription complex subunit 11;OTTHUMP00000161273;UPF0760 protein C2orf29;hypothetical protein LOC55571 APPROVED protein-coding ENSG00000158435 HGNC:25217 12812 VALIDATED 1602129 CNOT1 CCR4-NOT transcription complex, subunit 1 ENCODES a protein that exhibits estrogen receptor binding; poly(A) RNA binding; poly(A)-specific ribonuclease activity; INVOLVED IN negative regulation of intracellular estrogen receptor signaling pathway; negative regulation of retinoic acid receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN CCR4-NOT complex; cytoplasmic mRNA processing body; extracellular space; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 16 16 16 q21 43052843 43163048 - 58553850 58663790 - 58519946 58629886 - 6480464;8554872 10231032;10637334;11733989;11823428;11972353;12477932;14702039;15174051;16196087;16712791;16778766;17353931;17452450;17643375;18377426;19305408;19305409;19380743;19558367;19615732;19738201;19946888;20062063;20360068;21139048;21525035;21890473;21906983;21963094;21976065;22118674;22367759;22586326;22726844;22863883;22939629;22977175;23000965;23022380;23275444;23644599;24121232;24250222;24255178;24433985;24639526;24768538;24768540;24778252;24816145;8889548 23019 A5YKK6;B5MDN3;H3BMH0;H3BMZ2;H3BNB1;H3BPF1;H3BR89;H3BT18;H3BTH2;H3BU44;H3BVC9 AB023224;ABBA01025307;ABBA01025308;ABBA01025309;ABBA01025310;AC009118;AC010287;AF110778;AJ346264;AK056927;AK075125;AK092885;AK300281;AK301092;AK302495;AL117492;AL832769;AL833549;AMYH02032120;AMYH02032121;AMYH02032122;AMYH02032123;AMYH02032124;AMYH02032125;AMYH02032126;AMYH02032127;AMYH02032128;BC000779;BC011861;BC024317;BC027969;BC040523;BM023419;BM968443;BX537840;BX647815;CB162525;CR749237;DB456343;EF553522;NM_001265612;NM_016284;NM_206999;NR_049763 A5YKK6;AAF14861;AAH00779;AAH24317;AAH40523;ABQ66268;BAA76851;BAG51828;BAG52622;BAG62040;BAG63779;BAH13408;CAB55960;CAD97851;CAH18093;NP_001252541;NP_057368;NP_996882 Hs.460923;Hs.731691 1655264;1660299;1684128;1718885;1847081;1848952;1850276;2115407;2120462;2147595;2151479;2184689;2191265 A002K05;A004F31;D16S2562E;D16S2941;D16S3186;MARC_16903-16904:1022861972:1;RH123148;RH35951;RH41889;RH69078;RH70432;RH98939;SHGC-61172 AD-005;CDC39;DKFZp686E0722;DKFZp686O168;FLJ36492;FLJ90644;KIAA1007;NOT1;NOT1H;hNOT1 CCR4-NOT transcription complex subunit 1;CCR4-associated factor 1;NOT1 (negative regulator of transcription 1, yeast) homolog;OTTHUMP00000164723;adrenal gland protein AD-005;negative regulator of transcription subunit 1 homolog protein-coding ENSG00000125107 HGNC:7877 11999 604917 VALIDATED 1343563 CNOT10 CCR4-NOT transcription complex, subunit 10 INVOLVED IN gene expression (inferred); gene silencing by RNA (inferred); mRNA metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN CCR4-NOT complex; membrane; INTERACTS WITH cyclosporin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 3 3 3 p22.3 32665983 32752706 + 32726637 32815367 + 32685145 32773875 + 1580863;6480464;8554872 12477932;1348029;14702039;16344560;16730941;17353931;17452450;18377426;19558367;19615732;19946888;20360068;21139048;21890473;21906983;21963094;22505724;23232451;23275444;23303381;23383273;23503679;24163370;24255178;24778252;8889548 25904 B7Z5B3;E9PCN5;H7BZZ7;H7C0K1;H7C1X9;Q9H9A5 ABBA01024924;ABBA01024925;ABBA01024926;ABBA01024927;ABBA01024928;AC138972;AC139452;AK021695;AK022576;AK022952;AK023227;AK027026;AK297085;AK298693;AK302196;AK309670;AL117639;AMYH02006504;AMYH02006505;BC002928;BC002931;BC006382;BM979742;CH471055;DB107280;DC394847;NM_001256741;NM_001256742;NM_015442;NR_046352;XM_006713084;XM_006713085;Z14236 AAH02928;AAH02931;ABM83821;ABM87142;ACE86500;ACE87181;BAB13876;BAB14108;BAB14327;BAB14478;BAB15629;BAH12492;BAH12849;BAH13647;CAA78605;CAB56027;EAW64434;EAW64435;EAW64436;NP_001243670;NP_001243671;NP_056257;Q9H9A5;XP_006713147;XP_006713148 Hs.444851 2151566;2173453 SHGC-37518;STS-N62475 DKFZp434K115;FLJ12890;FLJ13165 CCR4-NOT transcription complex subunit 10;OTTHUMP00000161313;OTTHUMP00000208868;OTTHUMP00000208869 protein-coding ENSG00000182973 HGNC:23817 16731 VALIDATED 1323253 CNOT2 CCR4-NOT transcription complex, subunit 2 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] 12 12 12 q15 70300448 70412447 + 70636774 70748773 + 70242882 70354993 + 1580863;6480464 10637334;11042152;12477932;12882519;14702039;14707134;15489334;16039607;16189514;16344560;16712523;16778766;17452450;18377426;19558367;19946888;20211142;20360068;20379614;21299754;21906983;21963094;22367759;22959728;23383273;23602568;24121232;24778252;24816145 4848 B2RDX7;B3KTL6;F8VP97;F8VPX5;F8VQD8;F8VQF4;F8VRJ3;F8VRS8;F8VS14;F8VSK9;F8VUB4;F8VV05;F8VV52;F8VVD4;F8VVY1;F8VWH8;F8VX63;F8W145;H0YH84;H0YHT6;H0YHT8;H0YI11;H0YI80;Q9NZN8 AA234384;ABBA01026524;ABBA01026525;AC025569;AC092881;AF044215;AF113226;AF161480;AF180473;AK000662;AK095789;AK129966;AK307479;AK315715;AL137674;AMYH02026721;AMYH02026722;AMYH02026723;AY395696;BC002597;BC011826;BX641116;CH471054;DA445519;DB038192;NM_001199302;NM_001199303;NM_014515;NR_037615;XM_006719429;XM_006719430;XM_006719431;XM_006719432;XM_006719433 AAF29095;AAF29827;AAG39297;AAH02597;AAH11826;AAQ13426;AAR32245;ABZ92477;BAA91313;BAC85263;BAG38074;BAG53128;CAB70869;CAE46054;EAW97245;EAW97246;EAW97247;EAW97248;EAW97249;NP_001186231;NP_001186232;NP_055330;Q9NZN8;XP_006719492;XP_006719493;XP_006719494;XP_006719495;XP_006719496 Hs.133350;Hs.730666 1645799;1673834;1733542;1739701;2134688;2182393 A004I43;D12S1492;D12S1861;D12S882;RH68354;STS-T90463 CDC36;FLJ26456;HSPC131;NOT2;NOT2H CCR4-NOT transcription complex subunit 2;CCR4-associated factor 2;NOT2 (negative regulator of transcription 2, yeast) homolog;OTTHUMP00000241224;OTTHUMP00000241234;OTTHUMP00000241236;negative regulator of transcription 2 APPROVED protein-coding ENSG00000111596 HGNC:7878 05367 604909 REVIEWED 1351119 CNOT5 CCR4-NOT transcription complex, subunit 5 10880468 60403 HGNC:14100 1321153 CNOT4 CCR4-NOT transcription complex, subunit 4 The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010] 7 7 7 q33 129783984 129932315 - 135046547 135194875 - 135361795 135510127 - 6480464;8554872 10637334;11087754;11823428;12107410;12477932;14702039;15001359;15062086;15489334;16344560;18029348;19322201;19346402;19558367;19690564;20379614;21139048;21988832;22159038;24250222 4850 O95628 ABBA01001118;ABBA01001119;AC009331;AC083871;AF091094;AF180475;AK074493;AK074671;AK300365;AK314540;AL389980;AL519669;AMYH02016816;AMYH02016817;AMYH02016818;AMYH02016819;BC035590;CA396599;CH236950;CH471070;DA247976;KF458604;KF458610;KF458616;KF510131;KF510984;KF510987;NM_001008225;NM_001190847;NM_001190848;NM_001190849;NM_001190850;NM_013316;U71267;U71268 AAC72963;AAD00179;AAD00180;AAF29829;AAH35590;BAC11125;BAG51961;BAH13270;CAB97536;EAW83849;EAW83850;EAW83851;EAW83852;EAW83853;EAW83854;NP_001008226;NP_001177776;NP_001177777;NP_001177778;NP_001177779;NP_037448;O95628 Hs.490224 1339579;1651251;1663958;1698364;1727947;1777946;1846608;2169935;2191047;2217170;5037552;5115854;7184017;7185459 CNOT4_3404;D7S500;D8S2279;G36443;G63393;GDB:1317696;MARC_13799-13800:1006870121:1;RH102723;RH69333;SHGC-36328;SHGC-36724;ksks430 CLONE243;NOT4;NOT4H CCR4-NOT transcription complex subunit 4;CCR4-associated factor 4;E3 ubiquitin-protein ligase CNOT4;NOT4 (negative regulator of transcription 4, yeast) homolog;OTTHUMP00000208245;OTTHUMP00000208246;OTTHUMP00000208247;OTTHUMP00000208248;OTTHUMP00000208540;potential transcriptional repressor NOT4Hp APPROVED protein-coding ENSG00000080802 HGNC:7880 05369 604911 REVIEWED 6480981 CNOT4P1 CCR4-NOT transcription complex, subunit 4 pseudogene 1 13 13 21495803 21497372 - 20921664 20923233 - 100874389 ABBA01068594;AL356285;AMYH02027649;NG_032240 pseudo HGNC:39272 INFERRED 1312407 CNOT3 CCR4-NOT transcription complex, subunit 3 INVOLVED IN regulation of stem cell maintenance; FOUND IN CCR4-NOT complex; cytoplasmic mRNA processing body (ortholog); INTERACTS WITH atrazine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 19 19 19 q13.4 51682719 51700732 + 54641436 54659446 + 54137720 54155708 + 1580863;6480464 10637334;10941842;12207886;12477932;15302935;15489334;15752756;16159877;16189514;16341674;16344560;16778766;17452450;18029348;18255255;18377426;19558367;20360068;20970119;21139048;21890473;22053931;22294640;22342980;22367759;22939629;23144630;23263491;23602568;23667531;24116917;24121232;24816145;9734811 4849 H0Y5X7;H7C148;H7C3F5;H7C5J4;O75175 AB014591;ABBA01068172;ABBA01068173;AC012314;AC245052;AF180474;AF211967;AI660119;AK160386;AK300434;AL133647;BC016474;BM781759;BP390470;BQ439042;BU859614;CH471135;CU151838;CU457734;DB076207;NM_014516;XM_005258956;XM_005258957;XM_005258958;XM_005258959;XM_005277076;XM_005277077;XM_005277078;XM_005277079;XM_005277266;XM_005277267;XM_005277268;XM_005277269;XM_005278279;XM_005278280;XM_005278281;XM_005278282;XM_006725771;XM_006725772;XM_006725773;XM_006725774;XM_006725872;XM_006725873;XM_006725874;XM_006725875;XM_006725960;XM_006725961;XM_006725962;XM_006725963;XM_006726059;XM_006726060;XM_006726061;XM_006726062;XM_006726160;XM_006726161;XM_006726162;XM_006726163;XM_006726197;XM_006726198;XM_006726199;XM_006726200;XR_243935;XR_243936;XR_254258;XR_254259;XR_254309;XR_254310;XR_254515;XR_254516;XR_430951;XR_430952;XR_430984;XR_430985;XR_431004;XR_431005;XR_431023;XR_431024;XR_431054;XR_431055;XR_431065;XR_431066 AAF29828;AAH16474;BAA31666;BAD18729;BAH13283;CAB63766;EAW72192;EAW72193;EAW72194;NP_055331;O75175;XP_005259013;XP_005259014;XP_005259015;XP_005259016;XP_005277133;XP_005277134;XP_005277135;XP_005277136;XP_005277323;XP_005277324;XP_005277325;XP_005277326;XP_005278336;XP_005278337;XP_005278338;XP_005278339;XP_006725834;XP_006725835;XP_006725836;XP_006725837;XP_006725935;XP_006725936;XP_006725937;XP_006725938;XP_006726023;XP_006726024;XP_006726025;XP_006726026;XP_006726122;XP_006726123;XP_006726124;XP_006726125;XP_006726223;XP_006726224;XP_006726225;XP_006726226;XP_006726260;XP_006726261;XP_006726262;XP_006726263 Hs.343571 1789272;1798908;1800046;1800694;1800794;1806006;1806336;1807960;1808098;1808244;1808656;1809312;1809628;1810116;1810414;1810482;1810992;1819320;1824640;1824798;1826884;1835942;1837814;1837874;1842510;2041258;2041260;2041262;2041264;2041266;2041268;2041270;2041272;2041274;2041276;2041278;2041280;2041282;2041284;2041286;2041288;2041290;2041292;2041294;2041296;2041298;2041300;2041302;2041304;2041306;2041308;2041310;2041312;2041314;2041316;2041318;2041320;2041322;2041324;2041326;2041328;2041330;2041332;2041334;2041336;2041338;2041340;2041342;2041344;2041346;2041348;2041350;2041352;2041354;2041356;2041358;2041360;2041362;2041364;2041366;2041368;2041370;2041372;2041374;2041376;2041378;2041380;2041382;2041384;2041386;2041388;2041390;2041392;2041394;2041396;2041398;2041400;2041402;2041404;2041406;2041408;2041410;2041412;2041414;2041416;2041418;2041420;2041422;2041424;2041426;2041428;2041430;2041432;2041434;2041436;2103612;2103614;2103616;2103618;2103620;2103622;2103624;2103626;2103628;2106999 CNOT3_7840;ECD00295;ECD00878;ECD01208;ECD01259;ECD03956;ECD04123;ECD04958;ECD05030;ECD05103;ECD05310;ECD05646;ECD05806;ECD06050;ECD06200;ECD06234;ECD06494;ECD10727;ECD13418;ECD13498;ECD14557;ECD19132;ECD20077;ECD20107;ECD22462;G67807;REN91664;REN91665;REN91666;REN91667;REN91668;REN91669;REN91670;REN91671;REN91672;REN91673;REN91674;REN91675;REN91676;REN91677;REN91678;REN91679;REN91680;REN91681;REN91682;REN91683;REN91684;REN91685;REN91686;REN91687;REN91688;REN91689;REN91690;REN91691;REN91692;REN91693;REN91694;REN91695;REN91696;REN91697;REN91698;REN91699;REN91700;REN91701;REN91702;REN91703;REN91704;REN91705;REN91706;REN91707;REN91708;REN91709;REN91710;REN91711;REN91712;REN91713;REN91714;REN91715;REN91716;REN91717;REN91718;REN91719;REN91720;REN91721;REN91722;REN91723;REN91724;REN91725;REN91726;REN91727;REN91728;REN91729;REN91730;REN91731;REN91732;REN91733;REN91734;REN91735;REN91736;REN91737;REN91738;REN91739;REN91740;REN91741;REN91742;REN91743;REN91744;REN91745;REN91746;REN91747;REN91748;REN91749;REN91750;REN91751;REN91752;REN91753;stSG605816;stSG605818;stSG605824;stSG605825;stSG605826;stSG605827;stSG605829;stSG605830;stSG605831 KIAA0691;LENG2;NOT3;NOT3H CCR4-NOT transcription complex subunit 3;CCR4-associated factor 3;NOT3 (negative regulator of transcription 3, yeast) homolog;OTTHUMP00000069287;OTTHUMP00000197713;leukocyte receptor cluster member 2 protein-coding ENSG00000088038 HGNC:7879 05368 604910 VALIDATED 1319296 CNOT6L CCR4-NOT transcription complex, subunit 6-like ENCODES a protein that exhibits metal ion binding (inferred); poly(A)-specific ribonuclease activity (inferred); INVOLVED IN positive regulation of cell proliferation; positive regulation of cytoplasmic mRNA processing body assembly; FOUND IN CCR4-NOT complex; cytoplasm; nucleus; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; arsenous acid 4 4 4 q13.3 75935929 76042004 - 78634541 78740764 - 77713387 77819642 - 6480464 14702039;16344560;17353931;17452450;18377426;19558367;20211142;20360068;20379614;20628353;20818722;21233283;23591815;24057671 246175 B4E0K8;B4E2S0;D6RGK9;D6RIW9;H0Y9C1;H0Y9Z5;H0YA76;Q96LI5 ABBA01063374;ABBA01063375;AC104701;AK027214;AK058188;AK124855;AK303417;AK304397;AL133112;AMYH02009527;AMYH02009528;AMYH02009529;CH471057;DA043791;DB454180;NM_001286790;NM_144571;XM_005262877 AAI52817;BAB71707;BAG64470;BAG65232;CAB61415;EAX05818;EAX05819;NP_001273719;NP_653172;Q96LI5;XP_005262934 Hs.592519 1661369;1686891;1749565;1783936;1850203;1853428;2110327;2110925;2120561;2166596;2179459;2189543;5022022 A006V35;CNOT6L;CNOT6L_8159;D4S623E;D4S895;G33447;G34328;SHGC-111263;SHGC-111937;SHGC-24218;SHGC-36234;SHGC4-1546;UniSTS:235228 CCR4b CCR4-NOT transcription complex subunit 6-like;OTTHUMP00000219081;OTTHUMP00000219082;OTTHUMP00000219083;carbon catabolite repressor protein 4 homolog B protein-coding ENSG00000138767 HGNC:18042 10841 VALIDATED 1347023 CNOT6 CCR4-NOT transcription complex, subunit 6 The protein encoded by this gene is a subunit of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substates. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 175544212 175628139 + 179921412 180005358 + 180494230 180578358 + 6480464 10574462;10637334;11747467;11889047;12477932;12771185;14702039;15314026;16341674;17452450;17785442;18180299;18818012;19322201;19558367;19716330;19875381;19946888;20360068;21139048;21233283;21906983;22505724;8586417 57472 D6R9H6;Q9ULM6 AB033020;ABBA01010070;AC034213;AC122714;AJ426335;AK023599;AK314752;AL110144;AMYH02012906;AMYH02012907;AMYH02012908;BC015331;BC027476;BC073142;BC090918;BC114958;BC152469;BF940524;BM769589;BQ232180;CH471165;D20789;NM_015455;XM_005265953;XM_006714899;XM_006714900;XR_427808 AAH27476;AAI52470;AAI60174;BAA86508;BAG37291;CAD32417;EAW53752;EAW53753;EAW53754;NP_056270;Q9ULM6;XP_005266010;XP_006714962;XP_006714963 Hs.608380 1337571;1651193;1668689;1697252;1705176;1759951;1780804;7185327 D5S408;RH100;RH102120;SHGC-32852;SHGC-80037;WI-22407;bac52134T CCR4;Ccr4a;KIAA1194 CCR4 carbon catabolite repression 4-like;CCR4-NOT transcription complex subunit 6;OTTHUMP00000161544;carbon catabolite repression 4 protein;carbon catabolite repressor protein 4 homolog;cytoplasmic deadenylase APPROVED protein-coding ENSG00000113300 HGNC:14099 12341 608951 REVIEWED 2303314 CNOT6LP1 CCR4-NOT transcription complex, subunit 6-like pseudogene 1 15 15 15 q21.3 33184020 33188155 - 56295503 56299377 - 56003305 56007179 - 729530 ABBA01039012;AC039057;AMYH02030501;NG_009481 1761067;2185861;2189543;5022022 CNOT6L;SHGC-145013;SHGC-5880;UniSTS:235228 pseudo HGNC:32355 INFERRED 1314995 CNOT8 CCR4-NOT transcription complex, subunit 8 ENCODES a protein that exhibits 3'-5'-exoribonuclease activity; poly(A)-specific ribonuclease activity; INVOLVED IN exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; positive regulation of cell proliferation; RNA phosphodiester bond hydrolysis, exonucleolytic; FOUND IN CCR4-NOT complex; intracellular; INTERACTS WITH cobalt dichloride; copper(2+) sulfate; elemental selenium 5 5 5 q31-q33 150315139 150333293 + 154237755 154256352 + 154858550 154876792 + 1580863;6480464 10036195;10637334;11076863;11136725;11230166;11256614;12477932;12771185;14702039;15489334;15489336;15769875;16381901;16778766;17178784;17264152;17353931;19322201;19558367;19605561;20065043;20360068;20595389;20595394;21139048;21336257;21890473;21900206;21906983;21963094;21987572;22505724;22683897;22977175;23236473;23383273;24036545;24115769;9820826 9337 B7Z9U0;E5RFJ4;E5RGE4;E5RHD6;E5RHG0;E5RHL9;E5RHP3;E5RIL2;E5RIU0;E5RJC5;Q9UFF9 ABBA01026219;ABBA01026220;AC112169;AF053318;AF087844;AF180476;AK025358;AK297381;AK299589;AK303775;AK309359;AK314317;AK315864;AK316055;AK316221;AK316269;AL122045;AL520837;AMYH02012512;BC017366;BC093025;BT006857;BX647124;CH471062;DC387160;NM_001301073;NM_001301074;NM_001301075;NM_001301077;NM_001301080;NM_001301082;NM_001301083;NM_001301086;NM_004779;XM_005268526;XM_005268527;XM_005268528;XM_006714807 AAD02685;AAF29830;AAH17366;AAP35503;AAP97157;BAB15119;BAF98755;BAG36965;BAH12567;BAH13076;BAH14047;BAH14426;BAH14592;BAH14640;CAB59181;CAL38522;EAW61625;EAW61626;EAW61627;EAW61628;NP_001288002;NP_001288003;NP_001288004;NP_001288006;NP_001288009;NP_001288011;NP_001288012;NP_001288015;NP_004770;Q9UFF9;XP_005268583;XP_005268584;XP_005268585;XP_006714870 Hs.26703 2148135;2149669;2172530;2217172 A004P22;CNOT8_3504;RH65257;SGC32815 CAF1;CAF2;Caf1b;POP2;hCAF1 CAF1-like protein;CALIF;CALIFp;CCR4-NOT transcription complex subunit 8;CCR4-associated factor 8;OTTHUMP00000160695;OTTHUMP00000225991;OTTHUMP00000225997;OTTHUMP00000226001;OTTHUMP00000226002;OTTHUMP00000226004;OTTHUMP00000226007;PGK promoter directed over production protein-coding ENSG00000155508 HGNC:9207 07225 603731 VALIDATED 6777903 CNOT7P2 CCR4-NOT transcription complex, subunit 7 pseudogene 2 1 1 1 p13.1 114335898 114336948 + 116107222 116108050 + 115564601 115565429 + 100132332 ABBA01068474;AL592436;AMYH02001789;NG_030209 pseudo HGNC:44249 INFERRED 1313268 CNOT7 CCR4-NOT transcription complex, subunit 7 The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The encoded protein downregulates the innate immune response and therefore provides a therapeutic target for enhancing its antimicrobial activity against foreign agents. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014] 8 8 8 p22-p21.3 16052781 16070428 - 17086737 17104387 - 17229228 17246878 - 633241;1580863;6480464 1538749 10602502;10637334;11136725;11429045;12477932;12845644;14702039;15489334;15769875;16344560;17264152;18056425;18084094;18377426;19276069;19322201;19558367;19605561;19716330;19946888;20098747;20211142;20360068;21139048;21832049;21900206;21906983;21963094;23236473;23275444;23386060;23824909;24816145;7791755;8125298;8889549;9712883;9820826 29883 E5RGA8;E5RGH2;E5RHV9;E5RJE0;H0YAV9;H0YBT3;Q9UIV1 AA134869;AA165288;ABBA01021585;AC091050;AF086915;AK001209;AK021808;AK023466;AK225893;AL833642;AMYH02017530;AW448990;AX878690;BC007315;BC060852;BC070187;BM468592;BT006685;CH471080;DA752620;L46722;NM_013354;NM_054026;XM_005273481 AAF01500;AAH07315;AAH60852;AAH70187;AAP35331;AAP97145;BAG50869;BAG51053;BAG51197;CAE90224;EAW63820;EAW63821;EAW63822;EAW63823;NP_037486;NP_473367;Q9UIV1;XP_005273538 Hs.645009;Hs.729775 1794218;1795586;2166553;5022335;5091064;5124073 CNOT7;CNOT7_1517;D8S1343E;D8S2081;PMC310830P26;RH80037 CAF-1;CAF1;Caf1a;hCAF-1 BTG1 binding factor 1;BTG1-binding factor 1;CCR4-NOT transcription complex subunit 7;CCR4-associated factor 1;OTTHUMP00000122444;OTTHUMP00000225203;OTTHUMP00000225205;carbon catabolite repressor protein (CCR4)-associative factor 1 APPROVED protein-coding ENSG00000198791 HGNC:14101 604913 REVIEWED 6777190 CNOT7P1 CCR4-NOT transcription complex, subunit 7 pseudogene 1 X X X 69510393 69511247 - 69157013 69157867 - 69937163 69938017 - 100421338 ABBA01067516;AL450449;AMYH02039653;FO393403;NG_026715 pseudo HGNC:44248 INFERRED 1603862 CNPY1 canopy FGF signaling regulator 1 Cnpy1 is expressed in the midbrain-hindbrain (MHB) boundary in zebrafish, binds FGFR1 (MIM 136350), and plays a role in FGF signaling (Hirate and Okamoto, 2006 [PubMed 16488878]).[supplied by OMIM, Dec 2008] 7 7 7 q36.3 149717533 149750115 - 155293953 155326539 - 155501258 155533844 - 6480464 12477932;12690205;14702039;16488878 285888 Q3B7I2 ABBA01032394;AC008060;AC009403;AK094445;AMYH02017135;AMYH02017136;BC105732;BC105733;BC105734;BC107598;CH236954;NM_001103176 AAI05733;AAI05734;AAI05735;AAI07599;EAL23910;NP_001096646;Q3B7I2 Hs.146751 1650334;1790521;7184095 D7S3035;RH48682 MGC125606 OTTHUMP00000199893;OTTHUMP00000199894;canopy 1 homolog;protein canopy homolog 1 APPROVED protein-coding ENSG00000146910 HGNC:27786 612493 VALIDATED 1319430 CNPY3 canopy FGF signaling regulator 3 PRAT4A is associated with the immature form of TLR4 (MIM 603030) and regulates its cell surface expression (Wakabayashi et al., 2006 [PubMed 16849487]).[supplied by OMIM, Mar 2008] 6 6 6 p21.1 44449122 44459272 + 42896860 42911666 + 42929122 42947757 + 6480464;8554872 12477932;12754519;12975309;14702039;16849487;22447933;9225980 10695 Q9BT09 ABBA01050706;AF161347;AK090425;AK124196;AL035587;AMYH02013635;AY358960;BC004423;BC008133;BC008898;BC008961;BC011767;BC022093;CH471081;NM_006586;U80744;XM_005248815;XM_005248817;XM_005248818;XM_006714967;XM_006714968;XR_427823 AAB91442;AAF28907;AAH04423;AAH08898;AAH08961;AAH22093;AAQ89319;ABZ92293;BAC03406;EAX04111;EAX04112;EAX04113;EAX04114;EAX04115;EAX04116;EAX04117;EAX04118;EAX04119;EAX04120;EAX04121;EAX04122;NP_006577;Q9BT09;XP_005248872;XP_005248874;XP_005248875;XP_006715030;XP_006715031 Hs.414099 1338953;1688028;1730251;1739223;1745917;1788642;2155519;2163951;5014019;5016478;5020948;5109281;7185360 D12S814;D1S1425;D5S2354;D6S1374;D6S322E;G35510;G64272;GDB:434012;RH18149;RH18283;RH93325;SHGC-57523 CAG4A;ERDA5;PRAT4A;TNRC5 CAG repeat containing;CTG repeat protein 4a;OTTHUMP00000016408;canopy 3 homolog;expanded repeat domain, CAG/CTG 5;expanded repeat-domain protein CAG/CTG 5;protein associated with TLR4;protein associated with Toll-like receptor 4A;protein canopy homolog 3;trinucleotide repeat containing 5;trinucleotide repeat-containing gene 5 protein APPROVED protein-coding ENSG00000137161 HGNC:11968 06745 610774 VALIDATED 736298 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ENCODES a protein that exhibits 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (inferred); cyclic nucleotide binding (inferred); RNA binding (inferred); INVOLVED IN substantia nigra development; ASSOCIATED WITH Liver Cirrhosis, Alcoholic; Multiple Sclerosis; Restless Legs Syndrome; FOUND IN cytoplasm; extracellular space; extracellular vesicular exosome; INTERACTS WITH amiodarone; copper(2+) sulfate; diazinon 17 17 17 q21 36773458 36784455 + 40118737 40129754 + 41966741 41977740 + 1580863;6480464;6483340;6483336;6483347;6483334;6483345;6483357;6483335;6483337;6483351;6483338;6483346;6483343;6483344;6483331;6483339;6483333;6483353;8554872 10650887;16205370;16389193;16891421;17306456;17936728;18466224;18676363;19473295;19592007;19747899;20215974;21107918;21570342;21918687;22473874;7541143 10646504;11156964;11842207;11993850;12379507;12452325;12477932;12643545;12947117;1315529;1322358;1360194;1385234;14702039;15489334;15502338;15713463;16103231;16343930;17010574;17081065;17150526;17215244;17964117;18289148;18482256;18496213;19034380;19056867;19165527;19348671;19508346;19913121;19946888;20628086;21139048;21525035;2161933;2164018;21890473;21906983;22053931;22321011;22505724;22589395;22678362;22954668;23000965;23032943;23084924;23667531;23891004;24250222;24260477;24808540;24816145;2835044;2995854;6328143;7821789;8392017;8921398;9268698 1267 B4DFN6;C9K0L8;K7EN66;K7EQ27;K7ERC4;K7ERZ0;P09543 ABBA01006442;AC125257;AK026876;AK097833;AK098048;AK098384;AK124861;AK294179;AK295351;AMYH02033421;BC001362;BC006392;BC011046;BC028040;BC045561;CB988051;CH471152;D13146;D28445;M19650;NM_033133;S46843;S46849;S50013;S50017;XM_006721701;XM_006721702 AAA35704;AAB23928;AAB24298;AAH01362;AAH06392;AAH11046;AAH28040;ABM83501;ABM86717;BAA02435;BAA05811;BAA39694;BAG57497;BAG58318;EAW60785;EAW60786;EAW60787;NP_149124;P09543;XP_006721764;XP_006721765 Hs.273621 1661552;1672488;1699868;1729159;1730135;1778643;2127472;2138122;2218752;5120183 CNP_534.2;D17S824E;G10619;G63900;GDB:201802;RH1;RH103542;SGC35787;WI-15279;WI-15314 CNP1 2', 3' cyclic nucleotide 3' phosphohydrolase;2',3'-cyclic-nucleotide 3'-phosphodiesterase;CNPase;OTTHUMP00000164760;OTTHUMP00000164761 protein-coding ENSG00000173786 HGNC:2158 00448 123830 VALIDATED 1350709 CNPY2 canopy FGF signaling regulator 2 INVOLVED IN negative regulation of gene expression (ortholog); positive regulation of low-density lipoprotein particle receptor biosynthetic process (ortholog); regulation of low-density lipoprotein particle clearance (ortholog); FOUND IN endoplasmic reticulum (inferred); integral component of plasma membrane (inferred); INTERACTS WITH (+)-catechin; all-trans-retinoic acid; atrazine 12 12 12 q15 56357026 56362916 - 56704212 56710128 - 56310428 56316344 - 1580863;6480464 10072769;12477932;12826659;12975309;15489334;15905959;16344560;17207965;19240061;21139048;21832049;21906983;22378787;24816145 10330 F8VXJ7;F8W1K5;H0YI18;H0YIH9;Q9Y2B0 AA515271;AB015631;ABBA01008419;ABBA01008420;AC073896;AF186113;AK312921;AMYH02026566;AY032624;AY359102;BC001027;BC065015;CH471054;DA833421;FB746690;FB775566;NM_001190991;NM_014255 AAF01431;AAH01027;AAH65015;AAK38148;AAQ89460;ADQ32561;BAA76498;BAG35766;CAT04657;CAV30740;EAW96925;EAW96926;EAW96927;NP_001177920;NP_055070;Q9Y2B0 Hs.8752 1643727;1657489;1773084;1777448;2110027 RH47494;RH69835;STS-T97362;STS-W80474;USP52_9019 HP10390;MSAP;TMEM4;ZSIG9 MIR-interacting saposin-like protein;OTTHUMP00000243513;OTTHUMP00000243514;canopy 2 homolog;protein canopy homolog 2;putative secreted protein Zsig9;transmembrane protein 4 APPROVED protein-coding ENSG00000257727 HGNC:13529 12056 605861 VALIDATED 1343498 CNPPD1 cyclin Pas1/PHO80 domain containing 1 ENCODES a protein that exhibits protein kinase binding (inferred); INVOLVED IN regulation of cyclin-dependent protein serine/threonine kinase activity (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); C60 fullerene (ortholog); phorone (ortholog) 2 2 2 q35 213806335 213811418 - 220036619 220042885 - 219171897 219178163 - 6480464 10810093;12477932;15489334;17207965;21987572;22505724;8619474;9110174 27013 C9J597;C9JF31;Q9BV87 ABBA01023851;AC068946;AF070638;AF151815;AK075274;AK314975;AMYH02005816;AY007160;BC001393;BC012821;BI912613;CH471063;CR457401;DB477110;NM_015680;XM_005246462;XM_005246463;XM_006712419 AAC25393;AAD34052;AAG02008;AAH01393;AAH12821;ADQ32736;BAG37474;BAG52100;CAG33682;EAW70684;EAW70685;EAW70686;EAW70687;EAW70688;NP_056495;Q9BV87;XP_005246519;XP_005246520;XP_006712482 Hs.4973 1699050 RH103100 C2orf24;CGI-57 OTTHUMP00000164172;OTTHUMP00000206205;OTTHUMP00000206206;OTTHUMP00000206207;cyclin Pas1/PHO80 domain-containing protein 1;hypothetical protein LOC27013 APPROVED protein-coding ENSG00000115649 HGNC:25220 10780 VALIDATED 1606674 CNPY4 canopy FGF signaling regulator 4 ENCODES a protein that exhibits receptor binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2-methylcholine; copper(2+) sulfate; valproic acid 7 7 7 q22.1 94452426 94458394 + 99717265 99723131 + 100119642 100125508 + 6480464 12477932;12690205;12975309;16169070;16303743;16338228;22447933;24250222 245812 Q8N129 ABBA01013235;ABBA01013236;ABBA01013237;AC073842;AK075537;AMYH02016371;AMYH02016372;AY359100;BC019903;BC032339;CH236956;CS051459;NM_152755 AAH19903;AAH32339;AAQ89458;ABM82519;ABW03384;BAC11680;CAI72221;EAL23850;NP_689968;Q8N129 Hs.632293 1682628;2180267 RH99005;SHGC-57793 MGC40499;PRAT4B OTTHUMP00000206759;PRotein Associated with Tlr4;canopy 4 homolog;protein canopy homolog 4 APPROVED protein-coding ENSG00000166997 HGNC:28631 14611 610047 VALIDATED 735525 CNR1 cannabinoid receptor 1 (brain) This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009] 6 6 6 q14-q15 89267475 89293659 - 88849583 88876063 - 88139864 88166688 - 1358448;1358449;1580863;1626329;1626325;1626328;1626326;2314629;2314630;2314631;2314632;2314633;2314640;2314658;2314664;2314675;2314678;2314680;2314672;2314674;2314676;2314634;2314649;2314645;2316199;2316217;6480464;6484113;2314639;8554872 11803524;11841893;15613777;17292652;17405839;17850365;18401837;18678611;18771032;18810243;18930143;19133994;19208344;19295473;19325539;19368833;19372445;19414037;19493421;19530697;19595742;19661434;19681872;19827302;19854030;9106242 10454705;10762343;11140838;11168387;11214319;11324942;11353438;11727770;11860478;11894096;12060783;12082570;12095632;12153574;12237474;12435806;12477932;12497582;12511587;12690115;12752773;12767117;12920192;12970790;14574404;14580383;14628192;14714115;14749627;14755457;14966196;14966476;15108190;15289816;15472222;15489334;15562018;15620723;15657045;15657046;15668727;15688035;15728830;15927811;15952782;16204352;16263116;16314880;16344560;16365309;16623851;16634642;16712507;16715087;16741937;16788767;16818376;16917946;16962033;17015679;17041005;17065342;17068343;17074588;17160086;1718258;17270342;17284627;17356572;17370106;17384224;17449448;17508995;17509535;17533584;17595161;17655760;17669634;17678969;17683024;17684478;17712725;17873324;17881126;17923791;17942526;17978319;18064064;18092149;18156315;18165231;18174385;18179391;18186055;18213623;18240029;18267983;18285348;18287809;18319252;18331587;18336811;18354002;18375449;18477688;18483286;18519829;18577758;18579347;18599552;18606950;18606954;18606956;18618671;18676872;18705688;18761332;18776593;18799087;18815063;18830626;18941231;19008645;19014633;19016476;19018721;19046818;19052543;19058789;19077438;19086053;19089403;19093002;19103987;19165169;19217452;19242408;19274719;1931832;19366059;19366584;19419760;19420965;19443135;19477951;19481011;19485422;19539700;19547718;19596672;19598235;19652957;19659925;19725030;19730968;19766594;19801960;19837905;19839995;19854014;19858202;19874574;19913121;19919870;19938110;19942623;19944766;19956878;20007426;20010552;20010914;20015515;20041802;20049372;20080186;20090845;20107430;20124735;20192949;20195480;20197196;20204253;20307616;20369362;20391958;20406692;20415562;20468064;20494466;20505532;20506110;20555313;20587580;20602678;20606244;20607655;20621164;20628086;20631561;20680268;20691427;20705472;20720046;20734064;20808855;20838400;20851297;20852034;20854251;20862263;20863671;20885390;20929960;21034788;21041608;21044623;21050275;21062041;21129839;21148019;21156413;21203460;21209828;21234731;21244428;21251115;21266946;21306178;21346174;21373835;21396980;21420833;21442624;21443454;21450051;21459482;21471673;21471953;21472688;21472841;21477106;21480765;21513772;21543209;21590281;21603976;21633404;2165569;21666969;21693703;21695734;21790903;21795705;21808284;21863215;21892520;21901119;21908614;21931835;22029183;22033526;22035053;22037868;22085192;22087025;22138970;22244745;22256945;22334331;22362764;22370152;22393204;22431736;22532560;22534181;22542985;22567136;2263478;22669173;22678129;22701012;22763024;22776901;22789143;22826533;22827915;22846992;22850347;22868830;22926037;22940268;22944513;22948261;22976112;22995906;23010766;23057570;23142606;23161546;23167744;23207972;23244427;23277241;23306084;23318578;23337343;23407780;23408552;23422373;23441106;23449980;23453134;23541635;23620805;23624489;23687977;23727505;23734559;23747361;23748922;23755281;23838176;23894352;23937487;24053617;24075694;24091169;24092756;24152087;24172113;24322329;24349109;24366865;24391723;24530395;24553924;24843137;2834384;7876112;8889548 1268 F8W187;F8W908;P21554;S5TLS4;V5KA96 ABBA01040515;ABBA01040516;AF107262;AK313908;AL121835;AL136096;AMYH02014067;AY011601;AY225225;AY766182;AY995204;BC074811;BC074812;BC095513;BC100968;BC100969;BC100970;BC100971;BM682178;BX538191;CH471051;DA128033;DA239984;DA768458;DA793373;DA799263;DQ067455;KC292264;KF042592;NM_001160226;NM_001160258;NM_001160259;NM_016083;NM_033181;U73304;X54937;X81120;X81121;XM_005248650;XM_006715330 AAB18200;AAD34320;AAG37765;AAH74811;AAH74812;AAH95513;AAI00969;AAI00970;AAI00971;AAI00972;AAO67710;AAV35030;AAY21179;AAY68486;AGS49222;AGW25490;BAG36631;CAA38699;CAA57018;CAA57019;EAW48574;EAW48575;EAW48576;NP_001153698;NP_001153730;NP_001153731;NP_057167;NP_149421;P21554;XP_005248707;XP_006715393 Hs.75110 1676075;1735628;1793044;2113828;2116384;2140598;2166415;2180679;2187170;5492693;5492789 CNR1;D6S1243E;D6S1909;PMC193595P1;RH70837;RH79168;RH80958;SHGC-35377;UniSTS:482039;UniSTS:482606;WI-19695 CANN6;CB-R;CB1;CB1A;CB1K5;CB1R;CNR OTTHUMP00000016838;OTTHUMP00000016839;OTTHUMP00000214579;OTTHUMP00000241185;cannabinoid receptor 1;central cannabinoid receptor APPROVED protein-coding ENSG00000118432 HGNC:2159 00259 114610 REVIEWED 1603365 CNTD1 cyclin N-terminal domain containing 1 INTERACTS WITH ammonium chloride (ortholog); astaxanthin (ortholog) 17 17 17 q21.31 37606841 37619590 + 40950609 40963605 + 42798675 42811587 + 6480464 12477932;14702039;17207965;24891606 124817 B4DXR6;K7ELB6;K7EQE2;K7ERX8;Q8N815 ABBA01006407;AC016889;AK097456;AK302094;AL833052;AMYH02033437;AMYH02033438;AMYH02033439;AMYH02033440;BC026187;CH471152;NM_173478;XM_005257043;XM_005257044;XM_005257045;XM_006721690;XM_006721691 AAH26187;ADQ31735;BAC05060;BAG63478;CAH56287;EAW60886;EAW60887;NP_775749;Q8N815;XP_005257100;XP_005257101;XP_005257102;XP_006721753;XP_006721754 Hs.12272 1654805;1732253;1733798;1777423;2120322;2122816;2122818;2145305;2147379;2162511 A005R43;D17S1146;D17S1321;G20453;RH17649;RH47257;STS-U17909;STS-U18006;WI-11793;WI-17766 CNTD;FLJ40137 cyclin N-terminal domain-containing protein 1 protein-coding ENSG00000176563 HGNC:26847 08271 VALIDATED 1606946 CNST consortin, connexin sorting protein Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010] 1 1 1 q44 220016987 220121650 + 246729639 246831884 + 246566337 246668582 + 6480464 11076863;11230166;11256614;12477932;14702039;15489336;16189514;16344560;16381901;18854154;19389623;19864490;19946888;21044950;21382349;22321011;23080069;23824909;24250222 163882 B1AQM9;Q6PJW8 ABBA01031764;ABBA01031765;ABBA01047148;ABBA01047149;ABBA01047150;ABBA01047151;ABBA01047152;AK056563;AK074142;AK091739;AL356583;AL591623;AL591848;AL646019;AL834246;AMYH02003114;AMYH02003115;AMYH02003116;BC010228;BC036200;BX647629;CH471148;DA461531;DA994539;NM_001139459;NM_152609;XM_005273081;XM_005273082;XM_005273083;XM_006711751 AAH10228;AAH36200;BAB71218;BAB84968;BAC03735;CAD38922;CAL37458;CAL38207;EAW77154;EAW77155;EAW77156;EAW77157;EAW77158;EAW77159;NP_001132931;NP_689822;Q6PJW8;XP_005273138;XP_005273139;XP_005273140;XP_006711814 Hs.368353 1674675;1763403;1778466;1858247;2156772;2156774;2178027 A001Y44;AL009315;G19800;RH64548;SHGC-147118;SHGC-36595;SHGC-76637 C1orf71;FLJ32001;MGC18089;PPP1R64;RP11-452J6.1 OTTHUMP00000038011;OTTHUMP00000038012;consortin;protein phosphatase 1, regulatory subunit 64 APPROVED protein-coding ENSG00000162852 HGNC:26486 08718 613439 VALIDATED 1318105 CNRIP1 cannabinoid receptor interacting protein 1 This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013] 2 2 2 p14 68360897 68396770 - 68511303 68547183 - 68284171 68320051 - 737633;6480464 12477932 15489334;15815621;16344560;16696853;17895407;20379614;22990118 25927 B8ZZB8;Q96F85 ABBA01075483;AC015969;AK308979;AK311784;AL110235;AMYH02004010;AMYH02004011;AY144596;BC011535;BC035125;CH471053;DA523617;NM_001111101;NM_015463;XM_005264249;XM_006711984 AAH11535;AAN41658;AAX93120;BAG34727;CAB53688;EAW99877;NP_001104571;NP_056278;Q96F85;XP_005264306;XP_006712047 Hs.212885 1652621;1734948;1858518;2116160;2165701;5015861;5037552;5109281;7185938 D10S16;D1S1425;D2S1627E;D2S1705E;D8S2279;RH18495;SHGC-13116;WI-17115 C2orf32;CRIP-1;CRIP1;DKFZp566K1924 CB1 cannabinoid receptor-interacting protein 1;OTTHUMP00000159965;OTTHUMP00000201977;cannabinoid receptor CB1-interacting protein 1 APPROVED protein-coding ENSG00000119865 HGNC:24546 12813 REVIEWED 732246 CNR2 cannabinoid receptor 2 (macrophage) The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 22529091 22570596 - 24197005 24285549 - 23870515 23959054 - 1580863;2316193;2316196;2316224;2316223;2316199;2316197;6480464;2316195;8554872 17950273;18075852;18930143;19070664;19115380;19345493;19409856 10051546;11727770;12095632;12153574;12417328;12477932;12511587;12663043;12711605;12799277;14657172;14764676;14966196;15039279;15266552;15456404;15472222;15728830;15765409;15845647;15927811;16139274;16204352;16406364;16503355;16513651;16547349;16563625;16624285;17015679;17068343;17074588;17189959;17223358;17327359;17334644;17390085;17613768;17660390;17678969;17923791;18068305;18092149;18221003;18240029;18286196;18334483;18419603;18483286;18577758;18599552;18614816;18636169;18799087;18991891;19027245;19053233;19058789;19071106;19328464;19397896;19442614;19477951;19480992;19496827;19505450;19547718;19565271;19596672;19730968;19757078;19768813;19858202;19913121;19931541;19931854;20041802;20089805;20090845;20124950;20133454;20307616;20335147;20369362;20468064;20494466;20602678;20607655;20621164;20628086;20854251;21251115;21450051;21457344;21467997;21472688;21537344;21539938;21626285;21640764;21649637;21658778;21670103;21735070;21828121;21861534;22130134;22134924;22256945;22465144;22532560;22534181;22578958;22763024;22814029;22826533;22927922;23296125;23299999;23361273;23406660;23463725;23471521;23537664;23611779;23620805;23667597;23706402;23707465;23711022;23846977;23999926;24055259;24243315;24280624;24312195;24440992;24562630;24855641;24913620;25033246;7556170;7689702;8679694 1269 P34972 ABBA01059888;ABBA01059889;ABBA01059890;AJ430063;AJ430064;AL590609;AM156854;AM156855;AM156856;AMYH02000513;AMYH02000514;AY242132;BC069722;BC074767;BC095545;CH471134;CS613268;EU517121;GM007150;GM835801;HB435988;NM_001841;X74328;XM_005245736;XM_005245737;XM_005245738 AAH69722;AAH74767;AAH95545;AAO92299;ACD31539;CAA52376;CAD22548;CAD22549;CAJ42137;CAJ42138;CAJ42139;CAO02243;CAS97371;CAV28600;CAZ76867;EAW95099;EAW95100;NP_001832;P34972;XP_005245793;XP_005245794;XP_005245795 Hs.73037 1720949;1744177;2119920;2158356;2173980;5015959;5020948;5022200;5022450;5022578;5022651;5024510;5024761;5037552;5120437;5492645 D10S2448;D10S275;D11S2921;D13S1552;D1S1423;D8S2279;G35510;GDB:315881;GDB:435196;L18426;RH121875;RH36905;SGC31908;SHGC-74384;UniSTS:481892;WIAF-1577 CB-2;CB2;CX5;hCB2 OTTHUMP00000015772;cannabinoid receptor 2;testis-dominant CNR2 isoform CB2 APPROVED protein-coding HGNC:2160 05444 605051 REVIEWED 734034 CNTF ciliary neurotrophic factor The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. A read-through transcript variant composed of the upstream ZFP91 gene and CNTF sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Oct 2010] 11 11 11 q12.2 55749246 55752306 + 58390146 58393206 + 58622673 58625733 + 734795;734797;734796;1358522;1580863;1626112;1626113;1626114;1626122;6480464;1626115;6907045;8655591;8655853;8655632 11259650;11890844;11951178;12404108;14725620;14747836;16675997;19060281;23489213;8125754;8834105;9121555 10391209;10812968;10966616;11464862;11849142;11857064;12470191;12477932;12643274;1281789;12890930;14715713;15047605;15180291;15474906;15489334;15843428;16051226;16181490;16210701;16344560;16696750;16797081;16969278;1714745;17192435;17272411;17353931;17563726;17651970;18029348;18203754;18282590;18293418;18303965;1840538;18524890;18583979;18603262;1861138;18669911;18728012;1883844;19008309;19082510;19086053;1915374;19453261;19525893;19573019;19628720;19751193;19833146;19913121;20219210;20378664;20428961;20584990;20628086;20952820;21912637;22337942;2294592;23128233;23194670;23653362;23654315;23676962;23944834;23948898;24191003;7597043;7753485;7796798;7810882;7852996;8075647;8449041;8627290;9236223 1270 P26441 ABBA01021491;AK314118;AMYH02024860;AP001350;AP003557;BC068030;BC069167;BC074963;BC074964;CH471076;DB241497;DB341875;NG_008776;NM_000614;S72921;X55889;X55890;X60477;X60478;X60542 AAB31818;AAH68030;AAH69167;AAH74963;AAH74964;BAG36809;CAA39374;CAA43009;CAA43032;EAW73819;NP_000605;P26441 Hs.524920 1668662;1742269;1743609;1768697;1797416;2110061;2113960;5037744 CNTF;CNTF_1913;D11S4596;D1S3694;GDB:194646;GDB:360980;WI-12111;ZFP91__4947 HCNTF OTTHUMP00000174731 APPROVED protein-coding ENSG00000242689 HGNC:2169 00347 118945 REVIEWED 1602462 CNTD2 cyclin N-terminal domain containing 2 ENCODES a protein that exhibits protein kinase binding (inferred); INVOLVED IN regulation of cyclin-dependent protein serine/threonine kinase activity (inferred); FOUND IN nucleus (inferred) 19 19 19 q13.2 37527663 37532144 - 40728115 40732674 - 40222208 40226767 - 11237006;14702039;8889548 79935 D6RCS3;M0QZM5;Q9H8S5 ABBA01040746;AC118344;AI924992;AK023327;AK301833;AMYH02036106;BM709160;BU732215;CH471126;NM_024877;XM_006723395;XM_006723396;XR_430212 BAB14529;BAG63277;EAW56939;EAW56940;NP_079153;Q9H8S5;XP_006723458;XP_006723459 Hs.631603 1298201 D2S2333 CCNP;FLJ13265 OTTHUMP00000218301;OTTHUMP00000218303;cyclin N-terminal domain-containing protein 2;cyclin P protein-coding ENSG00000105219 HGNC:25805 08581 VALIDATED 7246707 CNTFR-AS1 CNTFR antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 9 9 9 p13 34499518 34514572 + 34568010 34583070 + 34568012 34583072 + 8554872 12477932 415056 ABBA01065011;AL160270;AMYH02019450;BC033987;BC038740;BC042806;NR_024369 Hs.734229 ncrna HGNC:48712 VALIDATED 1344115 CNTFR ciliary neurotrophic factor receptor This gene encodes a member of the type 1 cytokine receptor family. The encoded protein is the ligand-specific component of a tripartite receptor for ciliary neurotrophic factor, which plays a critical role in neuronal cell survival, differentiation and gene expression. Binding of ciliary neurotrophic factor to the encoded protein recruits the transmembrane components of the receptor, gp130 and leukemia inhibitory factor receptor, facilitating signal transduction. Single nucleotide polymorphisms in this gene may be associated with variations in muscle strength, as well as early onset of eating disorders. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011] 9 9 9 p13 34482940 34521225 - 34551425 34590713 - 34551427 34590714 - 1580863;6480464;6907045;8554872 10812968;10966616;11285233;11294841;11464862;11943154;12477932;12643274;12707266;12807897;15272019;15489334;16189514;16344560;1648265;16782820;17272411;17436251;17474147;18203754;18307269;19086053;19204726;19386761;19453261;20219210;20237496;20340160;20379614;21900206;22343487;23061382;23398366;7585948;7774913;7810882;8244400;8627290;8889548 1271 P26992;Q5T8H6 ABBA01065009;ABBA01065010;ABBA01065011;AK127444;AL160270;AL537375;AMYH02019450;BC001492;BI545014;BI829871;BM714356;BT019824;BX364434;CH471071;DB311865;L38020;L38021;L38022;L38023;L38024;L38025;M73238;NM_001207011;NM_001842;NM_147164;XM_005251362;XM_005251363;XM_006716720 AAA35707;AAA91337;AAH01492;AAV38627;ABM86381;ABW03790;BAG54504;EAW58445;EAW58446;EAW58447;EAW58448;NP_001193940;NP_001833;NP_671693;P26992;XP_005251419;XP_005251420;XP_006716783 Hs.129966 1683507;1697506;1720535;1735852;1765947;5017839 CNTFR;D9S985E;G59221;RH102255;RH80199;SHGC-149348 MGC1774 CNTF receptor subunit alpha;CNTFR alpha;CNTFR-alpha;OTTHUMP00000021270;OTTHUMP00000021271;OTTHUMP00000021272;ciliary neurotrophic factor receptor alpha;ciliary neurotrophic factor receptor subunit alpha APPROVED protein-coding ENSG00000122756 HGNC:2170 00348 118946 REVIEWED 732231 CNTN1 contactin 1 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 12 12 12 q11-q12 39889695 40267406 + 41086244 41466214 + 40692442 41072412 + 631992;734798;1580863;6480464;6484113;7240710;8554872;8699517 10595523;8586965 10103110;11556889;11567041;12139915;12477932;12700241;14567914;14592966;14676309;14761957;15146195;15489334;16078236;16335952;16344560;16368877;16510572;16865674;17500595;1838307;18464913;19026398;19086053;20379614;21482472;21805024;21900206;21969550;22321011;22360968;22580838;22581910;22925353;23382691;23724143;23934736;7595520;7628014;7959734;8164510;8889548;9049255;9081628;9335257;9584610;9651216 1272 F8VQW3;F8VUI8;F8VUI9;F8VX96;H0YIJ1;Q12860 ABBA01031374;ABBA01031375;ABBA01031376;ABBA01031377;ABBA01031378;AC015540;AC016144;AC024900;AC074030;AC129108;AI473107;AK289544;AK289698;AMYH02026340;AMYH02026341;AMYH02026342;AMYH02026343;AMYH02026344;BC036569;BM717031;BX648591;BY799936;CH471111;DA215712;DQ442053;DQ442054;NG_012058;NM_001256063;NM_001256064;NM_001843;NM_175038;U07819;U07820;XM_005268651;XM_006719241;Z21488 AAA67920;AAA67921;AAH36569;BAF82233;BAF82387;CAA79696;EAW57822;EAW57823;EAW57824;NP_001242992;NP_001242993;NP_001834;NP_778203;Q12860;XP_005268708;XP_006719304 Hs.143434;Hs.739161;Hs.741112 1335393;1668145;1671931;1676087;1683221;1717599;1724185;1730177;1733518;1739755;1744033;1746191;1746285;1746317;1746371;1746797;1746799;1751407;1768161;1857241;2114855;2148438;2150522;2159560;2164055;2169263;2169265 AFMa106vd5;D12S1065;D12S114E;D12S1526E;D12S1668;D12S860;G10362;G31049;G64355;G64356;G64645;G64646;G64794;G64795;GDB:384884;RH121228;RH122104;RH15725;RH66339;RH80961;RH93881;SHGC-105239;STS-H29473;WI-15428;WI-19166;WI-21903;WI-7876 F3;GP135;MYPCN OTTHUMP00000240894;OTTHUMP00000240899;contactin-1;glycoprotein gP135;neural cell surface protein F3 APPROVED protein-coding ENSG00000018236 HGNC:2171 07189 600016;612540 REVIEWED 1317678 CNTLN centlein, centrosomal protein ENCODES a protein that exhibits protein binding, bridging; protein domain specific binding; protein kinase binding; INVOLVED IN centriole-centriole cohesion; protein localization to organelle; ASSOCIATED WITH Melanoma (inferred); FOUND IN centriole; cytoplasm; extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine 9 9 9 p22.2 17063810 17432405 + 17134989 17503921 + 17134991 17503923 + 6480464;8554872 14702039;15164053;16344560;18029348;18086554;19056867;19416867;19648919;19850743;19913121;20379614;20628086;21963094;22266860;22424883;22940680;22952603;22990118;23703321;24250222 54875 B1AMC8;Q9NXG0 AA492222;AA828123;ABBA01065237;ABBA01065238;ABBA01065239;ABBA01065240;ABBA01065241;ABBA01065242;ABBA01065243;ABBA01065244;ABBA01065245;ABBA01065246;ABBA01065247;AK000283;AK021596;AK098502;AK303973;AK308837;AL133214;AL162725;AL354711;AL354738;AL590377;AMYH02019234;AMYH02019235;AMYH02019236;AW136479;AW590957;BG575335;BU075047;BU162362;BU663791;BX647069;CA428767;CH471071;CX786573;DA482759;DB079230;DB280003;GD147113;NM_001114395;NM_001286984;NM_001286985;NM_017738;XM_005251492;XM_006716793 AAI56252;BAA91052;BAB13850;BAC05319;BAG64894;EAW58664;NP_001107867;NP_001273913;NP_001273914;NP_060208;Q9NXG0;XP_005251549;XP_006716856 Hs.435381 1738257;1760729;2155462;5094823 AGAT142;D9S1218;D9S1709;SHGC-144253 C9orf101;C9orf39;FLJ20276;FLJ25636;RP11-340N12.1;bA340N12.1 OTTHUMP00000021082;OTTHUMP00000021083;centlein;centrosomal protein;chromosome 9 open reading frame 39 protein-coding ENSG00000044459 HGNC:23432 10800 611870 VALIDATED 734311 CNTN2 contactin 2 (axonal) The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. It may also be involved in glial tumorigenesis and may provide a potential target for therapeutic intervention. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 178147407 178182200 + 205012340 205047173 + 205043212 205078043 + 631992;734799;1580863;6480464;8699517;7240710;8554872 11280781;8586965 10567539;10766811;10830169;11264182;11279015;12139915;12370815;12477932;12963709;12975355;14697242;14702039;15146197;15340161;15806143;16335952;16409643;16424386;16611882;16710414;16767081;16822311;16865259;1720120;17766378;17891179;17942533;17986383;1838307;19064727;19086053;19416878;19451620;19609363;19776380;20029029;21532619;21696500;22003931;22058115;22462668;23518707;24026423;24405708;3272160;8242070;8307567;8344273;8425542;8586412;8663515;9403076;9837910 6900 A1L3A3;Q02246 AB074271;ABBA01027433;ABBA01027434;AK095531;AK124736;AK289985;AK309108;AL583832;AMYH02002543;BC036477;BC129986;CH471067;CN289415;CR749495;NG_033845;NM_005076;X67734;X68274;X84419;X84420;X92681 AAI29987;BAF82674;BAG54084;CAA47963;CAA48335;CAA59137;CAA63365;CAH18318;EAW91533;EAW91534;NP_005067;Q02246 Hs.519220 1341007;1645248;1659368;1721811;1754311;1768713;1787538;1846639;2107001;5094392 CNTN2_7885;D1S2773;G54651;G59928;RH70875;SHGC-132335;SHGC-155664;SHGC-76210;SHGC-76214;WI-15551 AXT;DKFZp781D102;FAME5;FLJ37193;FLJ42746;MGC157722;TAG-1;TAX;TAX-1;TAX1 OTTHUMP00000035179;axonal glycoprotein TAG-1;axonin-1 cell adhesion molecule;contactin 2;contactin 2 (transiently expressed);contactin-2;transient axonal glycoprotein 1;transiently-expressed axonal glycoprotein APPROVED protein-coding ENSG00000184144 HGNC:2172 01826 190197;615400 REVIEWED 732842 CNTN3 contactin 3 (plasmacytoma associated) INVOLVED IN cell adhesion (inferred); nervous system development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene diol epoxide I; clorgyline 3 3 3 p12.3 74247090 74505253 - 74311719 74663587 - 74262568 74614436 - 631992;1580863;6480464;8554872 8586965 10819331;11013081;12477932;14702039;16335952;16641997;18272596;19086053;19497516;20360857;20379614;20467438;22566634;8108413;8661054 5067 Q9P232 AB040929;ABBA01030975;ABBA01030976;ABBA01030977;AC016945;AC016950;AC024222;AC128653;AC128656;AK001157;AL512746;AMYH02007075;BC150608;BX951442;CH471055;DR002512;NM_020872;XM_005264757;XM_005264758;XM_005264759 AAI50609;BAA96020;CAC21671;EAW65535;NP_065923;Q9P232;XP_005264814;XP_005264815;XP_005264816 Hs.12723 1657926;1668504;1675287;1696982;1700322;1852462;2111586;2120687;2150158;2152767;2169030;2173339 A003M43;D13S1535;D3S2991;G15803;G16560;RH101963;RH103781;RH12055;SHGC-14155;SHGC-30572;STS-D62792;WI-14253 BIG-1;KIAA1496;PANG;PCS OTTHUMP00000213533;brain-derived immunoglobulin superfamily protein 1;contactin-3;plasmacytoma-associated neuronal glycoprotein protein-coding ENSG00000113805 HGNC:2173 601325 VALIDATED 6481438 CNTN4-AS1 CNTN4 antisense RNA 1 p26.2 100873975 AC022002;BM920658;NR_046554 Hs.581502 APPROVED ncrna HGNC:39985 VALIDATED 6481328 CNTN4-AS2 CNTN4 antisense RNA 2 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 2152093 2185925 - 2110409 2144241 - 8554872 100873976 ABBA01020493;AC087427;AMYH02006152;AMYH02006153;BE041831;HG495393;NR_046555 Hs.611138 RP11-176P14.1 APPROVED ncrna ENSG00000227588 HGNC:39986 VALIDATED 1349263 CNTN4 contactin 4 This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] 3 3 3 p26.3 2081784 3038879 + 2140550 3099645 + 2098866 3057961 + 631992;1580863;6480464;8554872 8586965 12202991;12477932;14571131;14702039;15106122;15198677;15489334;16335952;16344560;17030759;17036314;17903302;17915252;18272596;18349135;18551756;18837054;19262165;19404257;19451621;19509545;19578179;19736351;19913121;20101686;20201926;20233874;20628086;21079607;21116278;21145461;21308999;21445711;21457564;22318345;22449649;22750301;22990118;23471985;23824909;24379826;24764060;9221934 152330 C9JGK9;C9JIY1;C9JMQ2;F8WD58;H0Y8U1;Q8IWV2 ABBA01020486;ABBA01020487;ABBA01020488;ABBA01020489;ABBA01020490;ABBA01020491;ABBA01020492;ABBA01020493;AC018842;AC022002;AC022008;AC024057;AC026882;AC066608;AC087094;AC087427;AF464063;AF549455;AI022097;AK057278;AK095729;AK097633;AK125460;AK314396;AMYH02006152;AMYH02006153;AMYH02006154;AMYH02006155;AMYH02006156;AMYH02006157;AMYH02006158;AMYH02006159;AY090737;BC013797;BC026119;CH471055;DA063654;DA796385;DB457029;KF454900;KF457532;NG_012827;NM_001206955;NM_001206956;NM_175607;NM_175613;R42166;XM_006713003;XM_006713004;XM_006713005 AAH26119;AAM00025;AAN86141;AAP05786;BAG37020;BAG51896;BAG53116;BAG53498;EAW63873;EAW63874;EAW63875;EAW63876;EAW63877;EAW63878;NP_001193884;NP_001193885;NP_783200;NP_783302;Q8IWV2;XP_006713066;XP_006713067;XP_006713068 Hs.298705;Hs.626418 1336912;1337046;1337917;1645661;1645840;1652078;1653527;1655719;1691132;1705130;1712711;1717857;1720297;1721753;1723441;1755007;1756085;1757287;1763217;1763871;1765695;1775610;2150436;5037552;5094774 D3S2358;D3S3525;D3S3630;D3S3972;D3S4051;D5S1982;D8S2279;G19165;G59744;MFD433-AGA;RH118539;RH11898;RH121052;RH122760;RH123897;RH68658;RH92569;SHGC-141955;SHGC-142879;SHGC-144696;SHGC-146949;SHGC-147539;SHGC-149135;SHGC-56908;SHGC-79997 BIG-2;CNTN4A;MGC33615 AXCAM;OTTHUMP00000147566;OTTHUMP00000147567;OTTHUMP00000209582;axonal-associated cell adhesion molecule;brain-derived immunoglobulin superfamily protein 2;contactin-4;neural cell adhesion protein BIG-2 APPROVED protein-coding ENSG00000144619 HGNC:2174 16239 607280 REVIEWED 734326 CNTN5 contactin 5 The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 11 11 11 q22.1 96061589 97396830 + 98891706 100229616 + 99020976 100358885 + 6480464;8554872 11013081;11069942;12477932;17903297;17903304;18029348;18272596;1838307;19086053;19913121;20379614;20398908;20558387;20628086;20800603;20889312;22610502;23049088;23251661;8889548 53942 E9PKF9;O94779 AB013802;AB013803;ABBA01039969;ABBA01039970;ABBA01039971;ABBA01039972;ABBA01039973;ABBA01039974;ABBA01039975;ABBA01039976;ABBA01039977;ABBA01039978;ABBA01039979;ABBA01039980;ABBA01039981;ABBA01039982;ABBA01039983;ABBA01039984;ABBA01039985;AK294692;AK308788;AMYH02025433;AMYH02025434;AMYH02025435;AMYH02025436;AMYH02025437;AMYH02025438;AMYH02025439;AMYH02025440;AMYH02025441;AMYH02025442;AMYH02025443;AMYH02025444;AMYH02025445;AMYH02025446;AMYH02025447;AP000760;AP000798;AP000923;AP001892;AP001988;AP002378;AP002428;AP002987;AP003126;AP003441;AP003558;AP004249;BC039255;BC130619;BC144185;BC144186;BM697855;BU737133;BX090703;CH471065;KC877458;KF455462;KF455463;KF455464;KF455465;KF455466;KF455467;KF455470;KF455471;KF455473;KF495815;KF510388;KF510391;KF511105;NM_001243270;NM_001243271;NM_014361;NM_175566;R26700 AAH39255;AAI30620;AAI44186;AAI44187;BAA36579;BAA36580;BAG57851;EAW66992;EAW66993;NP_001230199;NP_001230200;NP_055176;NP_780775;O94779 Hs.656783 1338170;1341530;1653543;1659672;1671711;1685289;1705332;1708720;1708732;1710184;1710522;1716865;1732379;1737951;1737959;1738061;1738145;1750905;1782312;1782340;1782362;1782378;2116422;2138511;2170454;2186355 A004Z04;D11S1212;D11S1756;D11S1857;D11S1891;D11S2104;D11S3560;D11S3567;D11S3677;D11S3764;RH11653;RH121726;RH12521;RH70150;SHGC-104685;SHGC-13158;SHGC-142495;SHGC-145020;SHGC-149567;SHGC-153428;SHGC-81571;SHGC-81582;SHGC-82361;SHGC-83515;SHGC-86288;WI-14840 HNB-2s;MGC163491;NB-2 OTTHUMP00000236212;OTTHUMP00000236213;OTTHUMP00000236214;OTTHUMP00000236286;contactin-5;neural adhesion molecule;neural recognition molecule NB-2 APPROVED protein-coding ENSG00000149972 HGNC:2175 06241 607219 REVIEWED 733383 CNTN6 contactin 6 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 3 3 3 p26-p25 1075093 1385666 + 1134342 1445278 + 1092658 1403610 + 1580863;6480464;6484113;8554872 12477932;14592966;15146197;15489334;16344560;1838307;19086053;19509545;20339536;20379614;20398908;21079607;22205951;22219177;22589738;23650146;23872404;24324551;9486763 27255 B4DGV0;F8VWS7;F8WDQ0;Q9UQ52 AB003592;ABBA01020501;ABBA01020502;ABBA01020503;AC027123;AC034192;AK294786;AK307814;AK314220;AMYH02006141;AMYH02006142;AMYH02006143;AMYH02006144;AMYH02006145;BC036338;BC113118;CH471055;CN364480;DA094373;DA117077;DB170583;KF457518;NM_001289080;NM_001289081;NM_014461;XM_005265058 AAI13119;BAA82612;BAG57911;EAW63871;EAW63872;NP_001276009;NP_001276010;NP_055276;Q9UQ52;XP_005265115 Hs.387300 1334709;1705044;1705692;1707494;1714591;1728119;1749571;1750527;1753313;2169136;2183251;5095851;7187784 D3S1307;G16593;G63331;RH119809;RH44311;SHGC-111269;SHGC-111832;SHGC-78040;SHGC-82415;SHGC-83427;SHGC-84547;STS-N30615 MGC133256;NB3;hNB-3 OTTHUMP00000147565;OTTHUMP00000206867;contactin-6;neural adhesion molecule;neural recognition molecule NB-3 APPROVED protein-coding ENSG00000134115 HGNC:2176 06242 607220 REVIEWED 1352756 CNTNAP2 contactin associated protein-like 2 This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010] 7 7 7 q35 140486396 142788651 + 145813453 148118090 + 146116361 148420998 + 1580863;6480464;7240710;8554872;8699517 10048485;10624965;11352571;12093160;12421765;12477932;12542678;12690205;12809671;12853948;12963709;12975355;14702039;15203218;15489334;16571880;17392702;17646849;17903296;18179893;18179894;18179895;18496130;18512134;18957941;18987363;19086053;19166515;19546859;19582487;19706678;19889080;19896112;19913121;20157312;20176116;20200978;20379614;20414140;20421335;20446882;20502679;20628086;20711234;20808326;20889312;21048216;21193173;21310003;21387375;21448237;21565611;21827697;21906983;21987501;22031302;22159054;22365836;22429864;22500773;22589738;22690117;22728895;22744455;22872700;22948383;23074245;23115634;23123147;23192594;23251661;23277129;23382691;23407760;23459443;23871450;24147096;24418192;24722188 26047 B2RCH4;B7Z1Y6;H0Y4J0;Q9UHC6 AACC02000041;AB020675;AB073883;ABBA01033566;ABBA01033567;ABBA01033568;ABBA01033569;ABBA01033570;ABBA01033571;ABBA01033572;ABBA01033573;ABBA01033574;ABBA01033575;ABBA01033576;ABBA01033577;ABBA01033578;ABBA01033579;ABBA01033580;ABBA01033581;ABBA01033582;ABBA01033583;ABBA01033584;ABBA01033585;ABBA01033586;ABBA01033587;ABBA01033588;ABBA01033589;ABBA01033590;ABBA01033591;ABBA01033592;AC004856;AC004891;AC004896;AC005378;AC005518;AC005997;AC006004;AC006016;AC006315;AC006456;AC006992;AC007027;AC073112;AC073273;AC073276;AC073308;AC073418;AC073428;AC073644;AC074115;AC079405;AC083849;AC084872;AC092676;AC093172;AC237044;AF318292;AF318293;AF318297;AF318298;AF319045;AK000960;AK294098;AK296532;AK315113;AMYH02016988;AMYH02016989;AMYH02016990;AMYH02016991;AMYH02016992;AMYH02016993;AMYH02016994;AMYH02016995;AMYH02016996;AMYH02016997;AMYH02016998;AMYH02016999;AMYH02017000;AMYH02017001;AMYH02017002;AMYH02017003;AMYH02017004;AMYH02017005;AMYH02017006;AMYH02017007;AMYH02017008;AMYH02017009;AMYH02017010;AMYH02017011;AMYH02017012;AMYH02017013;AMYH02017014;AMYH02017015;AMYH02017016;AMYH02017017;AMYH02017018;AMYH02017019;AMYH02017020;AMYH02017021;AMYH02017022;AMYH02017023;AMYH02017024;AMYH02017025;BC093780;BC113373;CD625182;CD625192;CH471146;CR933671;CS321220;KF458628;KF458629;KF458630;KF458632;KF458634;KJ534810;KJ534811;KJ534812;KJ534813;KJ534814;KJ535069;KJ535088;NG_007092;NM_014141;XM_006715919 AAC36298;AAC71656;AAD50520;AAH93780;AAI13374;AAK34932;AAK49901;AAK49902;AAK49903;AAK49904;AAP21885;AAP21888;AAP21890;AAP22353;AAP22358;AAS00355;AAS02006;AAS07427;AAS07479;AAS07480;AAS07543;AAS07562;AHW56450;AHW56451;AHW56452;AHW56453;AHW56454;AHW56708;AHW56727;BAA74891;BAG37571;BAH11672;BAH12379;CAI45967;CAK96045;EAL24417;EAW80082;EAW80083;EAW80084;NP_054860;Q9UHC6;XP_006715982 Hs.655684 1337148;1340720;1644155;1644347;1648682;1650952;1657404;1657768;1657807;1658061;1662196;1667497;1672603;1673216;1674149;1676148;1676470;1687121;1695114;1695494;1696638;1707976;1708706;1714905;1723077;1724071;1727515;1735652;1747899;1752715;1761017;1762761;1763055;1765899;1771350;1778963;1779532;1786240;1786442;1786492;1787634;1847848;1854327;1854571;1855754;1857155;2126907;2130000;2132435;2133569;2139871;2142111;2143613;2143615;2152590;2154263;2156955;2160388;2166678;2167430;2169397;2170386;2171986;2172949;2174338;2176595;2176924;2180028;2186828;2187112;5109281;5494098;7183710;7186550 A006A14;AFM177xd6;AFMa082xc9;D1S1425;D7S1443;D7S1883;D7S2086E;D7S2247;D7S2352;D7S2511;D7S2692;D7S615;D7S739;G10405;G17196;G20646;G48196;G63015;G66883;GDB:1234254;GDB:1317468;GDB:1317490;GDB:1317500;GDB:1317522;GDB:1317592;GDB:1317638;GDB:1318058;GDB:1318092;GDB:1318130;GDB:1318136;GDB:1318162;GDB:1318218;GDB:1318378;GDB:1318643;GDB:1318708;GDB:1318716;GDB:3754357;GDB:3755029;GDB:3755031;RH11687;RH119047;RH120447;RH121890;RH18453;RH18454;RH46536;RH64839;RH78475;RH93051;RH93425;SHGC-106566;SHGC-132899;SHGC-144982;SHGC-146544;SHGC-146796;SHGC-149313;SHGC-153501;SHGC-156000;SHGC-172105;SHGC-24343;SHGC-31280;SHGC-5619;SHGC-68650;SHGC-80946;SHGC-81498;SHGC-82952;SHGC-84652;WI-10718;WI-13838;WI-15593;WI-21561;fc79b09.x1 AUTS15;CASPR2;CDFE;DKFZp781D1846;NRXN4;PTHSL1 OTTHUMP00000202306;cell recognition molecule Caspr2;contactin-associated protein 2;contactin-associated protein-like 2;homolog of Drosophila neurexin IV APPROVED protein-coding ENSG00000174469 HGNC:13830 05197 604569;610042;612100 REVIEWED 734159 CNTNAP1 contactin associated protein 1 The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009] 17 17 17 q21 37490091 37507480 + 40834632 40852011 + 42680395 42699993 + 70689;1580863;6480464 9118959 11496158;11839274;12477932;14592966;17474147;19086053;19372141;19423540;20406964;20438785;22190034;22268729;22315232;22360420;23192594;24250222;8889548;9407060;9535855 8506 K7EMM9;P78357 ABBA01006414;AC100793;AMYH02033434;AMYH02033435;BC171797;BU729460;CH471152;KC877657;NM_003632;U87223;XM_005257748;XM_006722141;XM_006722142 AAB48481;AAI60132;EAW60867;EAW60868;EAW60869;NP_003623;P78357;XP_005257805;XP_006722204;XP_006722205 Hs.408730 1649949;2135755;2169183;2169247 D17S2094;STS-U17905;STS-Z40888;WI-16114 CASPR;CNTNAP;NRXN4;P190;caspr1 contactin-associated protein 1;neurexin 4;neurexin IV;neurexin-4 APPROVED protein-coding ENSG00000108797 HGNC:8011 03825 602346 REVIEWED 1348176 CNTNAP3 contactin associated protein-like 3 The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] 9 9 9 p13.1 39407378 39424447 + 39070196 39288300 - 39070810 39288303 - 1580863;6480464;8554872 11214970;12093160;12477932;14702039;16344560;21906983 79937 A6NC89;B1AM99;B1AMA1;B1AMA2;F2Z2X6;Q9BZ76 AB051501;ABBA01040076;ABBA01040077;ABBA01040078;ABBA01040079;ABBA01040080;AF333769;AK056833;AK294281;AL162501;AL353729;AMYH02019533;AMYH02019534;AMYH02019535;AMYH02019536;AMYH02019537;AMYH02019538;AMYH02019539;AMYH02019540;AMYH02019541;AMYH02019542;AMYH02019543;AMYH02019544;AMYH02019545;AMYH02019546;AMYH02019547;AMYH02019548;AMYH02019549;AMYH02019550;AMYH02019551;AMYH02019552;AMYH02019553;AMYH02019554;AMYH02019555;AMYH02019556;AMYH02019557;AMYH02019558;AMYH02019559;AMYH02019560;AU130948;AW242597;BC132737;BC144130;CH878599;FP700059;NM_033655;XM_005251585;XM_005251586;XM_006716871;XM_006716872;XM_006716873;XM_006716874;XM_006716875;XM_006716876;XR_428430 AAG52889;AAI32738;BAB21805;BAB71293;BAG57566;EAW50585;NP_387504;Q9BZ76;XP_005251642;XP_005251643;XP_006716934;XP_006716935;XP_006716936;XP_006716937;XP_006716938;XP_006716939 Hs.128474;Hs.521495;Hs.604441 1672636;5038488;5125053 D1S538;RH66553;SHGC-34564 CASPR3;CNTNAP3A;RP11-138L21.1;RP11-290L7.1 OTTHUMP00000021403;OTTHUMP00000021405;cell recognition molecule Caspr3;contactin-associated protein-like 3 APPROVED protein-coding ENSG00000106714 HGNC:13834 10842 610517 REVIEWED 1604153 CNTNAP3B contactin associated protein-like 3B INVOLVED IN cell adhesion (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH acetaldehyde; 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 9 9 p11.2 43684885 43922476 + 41891887 42129504 - 6480464 14702039;15164053;15820314;21906983 728577 F2Z2X5;Q96NU0 ABBA01011690;ABBA01147977;AC025861;AK094831;AL592525;AL953854;BX538190;BX649569;BX664735;CR788268;FP700058;NM_001201380;XM_006716853;XM_006716854;XM_006716855;XM_006716856;XM_006716857;XM_006716858;XM_006716859;XM_006716860;XM_006716861;XM_006716862;XM_006716863 CAD98060;CAI16324;CAI16325;CAI16326;CAI95321;NP_001188309;Q96NU0;XP_006716916;XP_006716917;XP_006716918;XP_006716919;XP_006716920;XP_006716921;XP_006716922;XP_006716923;XP_006716924;XP_006716925;XP_006716926 Hs.521495;Hs.722375 5038488;5125053 RH66553;SHGC-34564 DKFZp686I15204 OTTHUMP00000064574;OTTHUMP00000064576;cell recognition molecule Caspr3b;contactin associated protein-like 3 pseudogene;contactin-associated protein-like 3B protein-coding ENSG00000154529 HGNC:32035 VALIDATED 7986307 CNTNAP3P1 contactin associated protein-like 3 pseudogene 1 9 9 66580734 66585039 + 62924910 62929215 + 100420787 AL512625;AMYH02020750;NG_023920 pseudo HGNC:49591 INFERRED 7980990 CNTNAP3P2 contactin associated protein-like 3 pseudogene 2 9 9 q12 65572847 65665647 + 67055392 67297148 + 14702039;16344560 643827 AK024257;AK054645;AL162233;BX005040;BX005195;DA051083;NR_111893;XR_432398;XR_432399;XR_432400;XR_432401;XR_432402;XR_432403;XR_432404;XR_432405;XR_432406;XR_432407 BAB14861;BAB70782 Hs.521495;Hs.604441 pseudo HGNC:49589 VALIDATED 7858181 CNTNAP3P5 contactin associated protein-like 3 pseudogene 5 9 9 46871139 46875470 + 62559838 62564169 + 100420786 AMYH02020576;BX005266;NG_023913 pseudo HGNC:49588 INFERRED 7880434 CNTNAP3P6 contactin associated protein-like 3 pseudogene 6 9 9 41923262 41927567 - 39778244 39782549 - 100420776 ABBA01008963;AMYH02019972;BX664615;NG_023817 pseudo HGNC:49583 INFERRED 7951880 CNTNAP3P7 contactin associated protein-like 3 pseudogene 7 9 9 44214155 44218376 - 42752743 42756964 + 100420777 ABBA01033775;AMYH02020194;BX664718;NG_023823 pseudo HGNC:49585 INFERRED 7935626 CNTNAP3P8 contactin associated protein-like 3 pseudogene 8 9 9 44429211 44433538 + 42537581 42541908 - 100420785 BX088651;NG_023910 pseudo HGNC:49586 INFERRED 1313519 CNTNAP5 contactin associated protein-like 5 This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008] 2 2 2 q14.3 118108942 118998311 + 124782864 125672954 + 124025287 124921201 + 1580863;6480464;8554872 14702039;16845472;17903302;19721433;20339536;20346443;20379614;20451256;22885689;23382691 129684 Q8WYK1 AB077881;ABBA01032273;ABBA01032274;ABBA01032275;ABBA01032276;ABBA01032277;ABBA01032278;ABBA01032279;ABBA01032280;ABBA01032281;ABBA01032282;ABBA01032283;AC010901;AC019105;AC019159;AC074362;AC079154;AC092158;AC097715;AC104648;AC105762;AI199572;AK056528;AMYH02004704;AMYH02004705;AMYH02004706;AMYH02004707;AMYH02004708;AMYH02004709;AMYH02004710;AMYH02004711;AMYH02004712;AMYH02004713;AMYH02004714;CH471103;KF456702;NM_130773;XM_006712258 AAI48398;AAX81997;AAX88894;AAX88904;AAY14716;AAY15042;AAY24250;BAB71205;BAB83897;EAW95266;EAW95267;EAW95268;EAW95269;NP_570129;Q8WYK1;XP_006712321 Hs.660653 1341839;1669820;1714767;1716725;1720383;1749027;1764699;1770333;1784336;1787628;1787690;1787744;1854567;2156547;2157674;2172982;2175975;2179354 D2S1974;D2S2055;D2S257;G15818;G16356;G16477;RH11889;RH120049;RH121654;RH123943;RH16682;SHGC-110666;SHGC-148288;SHGC-155997;SHGC-156166;SHGC-173343;SHGC-33202;SHGC-89274 FLJ31966;caspr5 OTTHUMP00000203755;cell recognition molecule Caspr5;contactin-associated protein-like 5 APPROVED protein-coding ENSG00000155052 HGNC:18748 16732 610519 REVIEWED 1315089 CNTNAP4 contactin associated protein-like 4 This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 16 q23.1 60613616 60890640 + 76311176 76593135 + 76277278 76559238 + 6480464;8554872 11214970;12093160;12421765;12477932;14702039;16344560;17213182;18398821;19844255;20379614;22359512;22569225;22661486;22952603;24223195;7757816 85445 E9PDN6;F5H107;Q9C0A0 AB051550;AB100092;AB100093;AB100094;ABBA01017044;ABBA01017045;ABBA01017046;ABBA01017047;ABBA01017048;ABBA01017049;AC010528;AC106741;AF463518;AI352097;AK054786;AK057327;AMYH02032413;AMYH02032414;AMYH02032415;AMYH02032416;AMYH02032417;BC017266;BM544789;CH471114;DA319383;DB050637;DT217898;FO681478;NM_033401;NM_138994;Z44514 AAI41551;AAL68839;BAB21854;BAB71429;BAC55270;BAC55271;BAC55272;EAW95610;EAW95611;NP_207837;NP_620481;Q9C0A0 Hs.461389 1336397;1337002;1341872;1696602;1711988;1724747;1738837;1783422;2171904;7183999 D16S2890;D16S3083;D16S3118;D16S515;D16S742;RH118447;RH122580;SHGC-155721;SHGC-82903 CASPR4;KIAA1763 OTTHUMP00000211851;OTTHUMP00000211853;cell recognition molecule Caspr4;cell recognition protein CASPR4;contactin-associated protein-like 4 APPROVED protein-coding ENSG00000152910 HGNC:18747 13079 610518 REVIEWED 1603924 CNTROB centrobin, centrosomal BRCA2 interacting protein This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 17 17 17 p13.1 7863187 7880713 + 7835442 7853237 + 7932124 7949919 + 6480464 11984006;12477932;14702039;15146197;15489334;15498874;16275750;16713569;17535851;18029348;20085806;20190801;20508983;20511645;21139048;21576394;21906983;21963094;21987572;22505724;23001753;23291182;23442802;24250222;24255178;24700465 116840 I3L0P9;I3L1A6;I3L1B0;I3L1E9;I3L1Z8;I3L3N2;I3L465;Q8N137 ABBA01054890;ABBA01054891;AC104581;AF141344;AF331638;AI494457;AK074847;AK293076;AK303093;AL833907;AMYH02032918;AY160226;AY160227;BC014055;BC021134;CH471108;CN390730;KF456241;NG_029754;NM_001037144;NM_053051;XM_005256437;XM_005256438;XM_005256439;XM_006721438;XM_006721439;XM_006721440;XR_243537 AAG49447;AAH14055;AAH21134;AAL56068;AAO22135;AAO22136;ABM82964;ABM86155;BAC11241;BAF85765;BAG64203;CAD38763;EAW90104;EAW90105;EAW90106;EAW90107;EAW90108;NP_001032221;NP_444279;Q8N137;XP_005256494;XP_005256495;XP_005256496;XP_006721501;XP_006721502;XP_006721503 Hs.348012 1856326;2161385;2189419;2189447;5021706 MARC_5489-5490:991939649:1;MARC_6307-6308:992007230:1;RH78633;WI-18598;ksks299 LIP8;PP1221 LYST-interacting protein 8;LYST-interacting protein LIP8;centrobin;centrosomal BRCA2 interacting protein;centrosomal BRCA2-interacting protein APPROVED protein-coding ENSG00000170037 HGNC:29616 13991 611425 REVIEWED 1313275 CNTRL centriolin This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 94499026 94588358 + 123837170 123939888 + 121074964 121177610 + 6480464;8554872 10187805;10359848;10688839;10965126;11076968;11956314;12221128;12477932;12732615;12852856;14702039;15337773;16112646;16213214;16462731;17140400;19850743;19946888;20379614;20508983;20936779;21139048;21890473;22610502;23777766;7790358;8889548 11064 Q5JVD1;Q5JVD2;Q5JVD3;Q5JVD5;Q5JVD6;Q7Z7A1;Q8WX70 AA287401;ABBA01016234;ABBA01016235;AC006430;AF083322;AF513978;AK074079;AK090600;AK093457;AK097636;AK128098;AK297330;AK307387;AL080231;AL137068;AMYH02021577;AY651261;BC002932;BC009287;BC089415;BC137284;BC137286;BX640927;CF142611;NM_007018;XM_005251679;XM_006716940;XM_006716941;XM_006716942;XM_006716943;XM_006716944 AAC32373;AAH02932;AAH89415;AAI37285;AAI37287;AAP43846;AAX35689;BAB84905;BAC87273;BAG59789;CAE45965;NP_008949;Q7Z7A1;XP_005251736;XP_006717003;XP_006717004;XP_006717005;XP_006717006;XP_006717007 Hs.653263 1663936;1714787;1764809;1865826;2143168 REN3576;RH120059;RH79002;SHGC-148376;WI-11957 CEP1;CEP110;FAN;bA165P4.1 110 kDa centrosomal protein;OTTHUMP00000022002;OTTHUMP00000158535;bA165P4.1 (ortholog of mouse Ma2a8);bA165P4.2 (centrosomal protein 1);centriole associated protein;centrosomal protein 1;centrosomal protein 110kDa;centrosomal protein of 110 kDa APPROVED protein-coding ENSG00000119397 HGNC:1858 05691 605496 REVIEWED 1601863 COA1 cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae) INVOLVED IN mitochondrial respiratory chain complex I assembly; mitochondrial respiratory chain complex IV assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; integral component of mitochondrial inner membrane; mitochondrion; INTERACTS WITH 5-aza-2'-deoxycytidine; afimoxifene; bicalutamide 7 7 7 p13 43668728 43758937 - 43648052 43769140 - 43608453 43729541 - 6480464;8554872 12477932;14702039;17207965;21145461;21504906;21906983;21963094;22356826;23000965 55744 C9J6J1;C9JA07;F2Z2D1;F2Z2J3;F8WBS2;Q9GZY4 ABBA01058188;ABBA01058189;ABBA01058190;ABBA01058191;ABBA01058192;AC005189;AC093645;AK001665;AK021905;AK023007;AK023053;AK097203;AK127933;AK129690;AK293043;AK309315;AMYH02015610;AMYH02015611;BC056884;CH236951;CH471073;KF458451;NM_018224;NR_047701;XM_005249804;XM_005249806;XM_005249807;XM_006715751;XM_006715752;XR_242093;XR_242094;XR_242095;XR_428082;XR_428083 AAH56884;ADQ33122;BAA91821;BAB13932;BAB14356;BAB14379;BAF85732;BAG53433;EAW94165;EAW94166;EAW94167;EAW94168;EAW94169;EAW94170;NP_060694;Q9GZY4;XP_005249861;XP_005249863;XP_005249864;XP_006715814;XP_006715815 Hs.654779;Hs.655165 1646913;1654220;1654891;1665844;1676482;1686983;2145562;2152384;2153765;2155560;2155799;2175827 A001X28;D7S1397;D7S2799;D7S743;G17155;G17198;GDB:4585463;RH16240;RH26508;RH91776;STS-T51004;WI-11641 C7orf44;FLJ10803;MITRAC15 OTTHUMP00000194892;OTTHUMP00000194893;OTTHUMP00000207458;OTTHUMP00000207459;OTTHUMP00000207461;OTTHUMP00000207464;OTTHUMP00000207465;OTTHUMP00000207466;cytochrome c oxidase assembly factor 1 homolog;cytochrome c oxidase assembly protein 1 homolog;cytochrome oxidase assembly 1;cytochrome oxidase assembly protein 1 homolog;hypothetical protein LOC55744;mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa;uncharacterized protein C7orf44 APPROVED protein-coding ENSG00000106603 HGNC:21868 07700 614769 VALIDATED 1602710 COA4 cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae) FOUND IN mitochondrion (inferred); INTERACTS WITH atrazine; cobalt dichloride; copper(2+) sulfate 11 11 11 q13.4 70890633 70894811 - 73583712 73587890 - 73872667 73876845 - 6480464 11076863;11085516;11230166;12477932;15489336;16381901;20624914;24816145 51287 Q9NYJ1 ABBA01017503;AF242180;AK000434;AL359618;AMYH02025099;AP002770;BC106036;CH471076;NM_016565 AAF60345;AAI06037;CAH10681;CAL37680;EAW74914;EAW74915;EAW74916;NP_057649;Q9NYJ1 Hs.475387 2109269;2129954;2165740;5092762 A006A30;E2IG2_9698;G32313;STS-T99047 CHCHD8;CMC3;DKFZp762H1711;E2IG2;MGC117206 E2-induced gene 2 protein;OTTHUMP00000237774;coiled-coil-helix-coiled-coil-helix domain containing 8;coiled-coil-helix-coiled-coil-helix domain-containing protein 8;cytochrome c oxidase assembly factor 4 homolog, mitochondrial APPROVED protein-coding ENSG00000181924 HGNC:24604 06421 608016 VALIDATED 1606307 COA3 cytochrome c oxidase assembly factor 3 This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012] 17 17 17 q21 37605639 37606691 - 40949636 40950743 - 42797618 42798725 - 6480464 11042152;12477932;15489334;16344560;21890473;22356826;22610097;23260140;23362268;24816145;7490091;8125298 28958 K7EPV0;Q9Y2R0 ABBA01006407;AC016889;AF070665;AK225611;AK290863;AK295023;AL524532;AMYH02033437;AU122748;BC002698;CH471152;L38939;NG_016227;NM_001040431 AAD20971;AAH02698;ABM84374;ABW03549;BAF83552;BAH11952;EAW60884;EAW60885;NP_001035521;Q9Y2R0 Hs.16059 1777423;2120322;2169565 RH45445;STS-U18006;WI-17766 CCDC56;FLJ50764;HSPC009;MITRAC12 coiled-coil domain containing 56;coiled-coil domain-containing protein 56;cytochrome C oxidase assembly factor 3 homolog, mitochondrial;cytochrome c oxidase assembly protein 3 homolog, mitochondrial;cytochrome oxidase assembly;mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa APPROVED protein-coding ENSG00000183978 HGNC:24990 614775 REVIEWED 1352912 COA6 cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] 1 1 1 q42.2 207780333 207790700 + 234508932 234519795 + 234373193 234384049 + 6480464 11076863;11329013;12477932;15489334;15489336;16381901;16710414;16712791;20877624;21890473;22277967;22356826;22939629;22984289;24549041 388753 Q5JTJ3;X6R5Z6 ABBA01033094;AL355472;AMYH02002923;AMYH02002924;BC025793;BC035925;BC052810;BC064905;BC116455;BG195363;BG204581;CB136291;CH471098;HY169996;NG_034250;NM_001012985;NM_001206641;NM_001301733;XM_005273123 AAH25793;AAI16456;CAL38197;CAL38653;EAW69992;NP_001013003;NP_001193570;NP_001288662;Q5JTJ3;XP_005273180 Hs.23198 1667908;1699236;1771502 RH103199;SHGC-76538;SHGC-76585 C1orf31 OTTHUMP00000036046;cytochrome c oxidase assembly factor 6 homolog;hypothetical protein LOC388753;uncharacterized protein C1orf31 APPROVED protein-coding ENSG00000168275 HGNC:18025 18535 614772 REVIEWED 1606511 COA7 cytochrome c oxidase assembly factor 7 (putative) FOUND IN mitochondrion (inferred); INTERACTS WITH (S)-colchicine; 17beta-estradiol; adenine 1 1 1 p32.3 51438778 51450802 - 53152014 53164038 - 52686342 52698366 - 6480464 12477932;14702039;15489334;19460752;21890473;21906983;22114354;22939629;22990118;24255178;24333015;24816145;8125298 65260 Q96BR5 ABBA01074765;AC099784;AK022501;AK023237;AK225041;AK225087;AMYH02001021;BC005992;BC015313;CH471059;NM_023077 AAH15313;BAB14063;EAX06772;NP_075565;Q96BR5 Hs.349905 5022450;5022578;5037552 D10S275;D1S1423;D8S2279 C1orf163;FLJ12439;RESA1;SELRC1 OTTHUMP00000010167;Sel1 repeat containing 1;beta-lactamase hcp-like protein;cytochrome c oxidase assembly factor 7;hcp beta-lactamase-like protein C1orf163;respiratory chain assembly 1;respiratory chain assembly factor 1;sel1 repeat-containing protein 1 APPROVED protein-coding HGNC:25716 07769 615623 VALIDATED 1604134 COA5 cytochrome c oxidase assembly factor 5 This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011] 2 2 2 q11.2 93419589 93428679 - 99215786 99224981 - 98599323 98608518 - 6480464;7240710;8699517 12477932;16344560;21457908;21832049;22356826 493753 B9A057;Q86WW8 ABBA01073966;AC010134;AI002968;AK131034;AMYH02004385;BC047722;CH471127;DA214157;NG_031918;NM_001008215 AAH47722;AAX93231;ADR82642;EAX01903;NP_001008216;Q86WW8 Hs.596537 1677534;1734994;2175606;2175661 D2S1730E;RH45728;RH70762;STS-N89909 6330578E17Rik;C2orf64;MGC52110;Pet191 OTTHUMP00000203122;hypothetical protein LOC493753 APPROVED protein-coding ENSG00000183513 HGNC:33848 17563 220110;613920 REVIEWED 1354088 COASY CoA synthase Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014] 17 17 17 q12-q21 37370025 37374228 + 40713485 40718299 + 42562074 42566281 + 1580863;1642057;6480464;6907045;8699517;7240710;8554872 11153910 11923312;11980892;11994049;12477932;14514684;14702039;15302935;15489334;15589845;16189514;16341674;16344560;16460672;18029348;18781797;18820009;18854154;19056867;19482007;19692168;21139048;21832049;21890473;22863883;22982864;23447832;23824909;24360804;24816145;8125298;8529999 80347 K7EN91;K7EP09;K7EPC2;K7EPT0;K7EQ60;K7ES73;K7ESK6;Q13057 ABBA01006420;AC067852;AF208536;AF453478;AK075415;AK092498;AK225485;AK297153;AK303766;AK314076;AL360167;AL360168;AL583142;AL833588;AMYH02033430;AY094602;BC006354;BC020985;BC067254;BM473635;BM781531;BT007168;CH471152;DA131866;DA786254;NG_029442;NG_034110;NM_001042529;NM_001042532;NM_025233;U18919;XM_006722116;XR_429926 AAA69699;AAF87955;AAH06354;AAH20985;AAH67254;AAL50813;AAM19996;AAP35832;ADZ15824;BAG36775;BAG59652;BAG64732;EAW60838;EAW60839;EAW60840;NP_001035994;NP_001035997;NP_079509;Q13057;XP_006722179 Hs.296422;Hs.742262 1652404;1767439;1767441;2155392 RH67830;RH71206;SHGC-13493;WI-20188 DPCK;FLJ35179;NBIA6;NBP;PPAT;UKR1;pOV-2 Coenzyme A synthase;bifunctional coenzyme A synthase;bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase;nucleotide binding protein;phosphopantetheine adenylyltransferase / dephosphocoenzyme A kinase APPROVED protein-coding ENSG00000068120 HGNC:29932 13080 609855;615643 REVIEWED 1323755 COBL cordon-bleu WH2 repeat protein ENCODES a protein that exhibits actin monomer binding (ortholog); INVOLVED IN actin filament network formation (ortholog); actin filament polymerization (ortholog); collateral sprouting in absence of injury (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN actin filament (ortholog); axon (ortholog); axonal growth cone (ortholog); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 7 7 7 p12.1 51148737 51449348 - 51083909 51384515 - 51016212 51316818 - 6480464;8554872 12477932;14512015;15345747;15489334;16344560;19058789;19240061;19430480;20379614;20936779;21816349;22939629;23726511;23740775;24332808;7586755;9734811 23242 C9J9X1;H7C1N2;H7C2C4;J3KR05;O75128 AB014533;ABBA01011808;ABBA01011809;ABBA01011810;AC004414;AC005535;AC012372;AK293883;AK308718;AK309254;AL713786;AMYH02015701;AMYH02015702;AMYH02015703;BC029275;BC045771;BC094695;BC111496;BC136441;BC144099;BC150263;CH236955;CH471128;CR936689;DA245843;NM_001287436;NM_001287438;NM_015198;XM_005271750;XM_005271751;XM_005271752;XM_005271753;XM_005271755;XM_005271756;XM_005271757;XM_006715675 AAH29275;AAH45771;AAH94695;AAI11497;AAI36442;AAI44100;AAI50264;BAA31608;BAG57272;CAD28543;EAL23896;EAW60962;EAW60963;NP_001274365;NP_001274367;NP_056013;O75128;XP_005271807;XP_005271808;XP_005271809;XP_005271810;XP_005271812;XP_005271813;XP_005271814;XP_006715738 Hs.99141 1342374;1650264;1672394;1672442;1684433;1780276;2128366;2162253;2165721;2179854;2218400;5022672;7184444 COBL;COBL_4605;D7S1430;D7S1970;D7S2422;D7S724;GDB:1317222;RH66457;RH69755;RH92383;SHGC-150799;SHGC-35886 DKFZp686G13227;KIAA0633;MGC131893 OTTHUMP00000209048;OTTHUMP00000209049;OTTHUMP00000209050;cordon-bleu homolog;protein cordon-bleu APPROVED protein-coding ENSG00000106078 HGNC:22199 10843 610317 VALIDATED 1319028 COBLL1 cordon-bleu WH2 repeat protein-like 1 ENCODES a protein that exhibits actin binding (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; arsenous acid 2 2 2 q24.3 159151901 159308589 - 165536695 165698678 - 164680185 164842168 - 6480464 10231032;12477932;14512015;14702039;15489334;15815621;16964243;19056867;19401544;20339536;20379614;20468071;20686565;20936779;21569526;22294699;22581228;23463496;23563607;23754948;24097068;8125298 22837 B7Z2P5;C9J5Y6;C9J8C4;C9JAU3;C9JK90;C9JWZ0;F8WEK0;H7C1G2;Q53SF7 AB023194;ABBA01004911;AC019181;AI261693;AK001813;AK002054;AK002057;AK075181;AK225849;AK294937;AL049939;AL832824;AMYH02005122;AMYH02005123;AMYH02005124;BC006264;BC071588;BX537877;BX648994;BX649112;CB989062;CH471058;NM_001278458;NM_001278460;NM_001278461;NM_014900 AAH06264;AAH71588;AAX93068;BAA76821;BAG50979;BAG51007;BAH11931;CAB43215;CAD97877;EAX11338;EAX11339;EAX11340;EAX11341;NP_001265387;NP_001265389;NP_001265390;NP_055715;Q53SF7 Hs.470457;Hs.744314 1652623;1655994;1716877;1726521;1852033;1853139;5015961;5022200;5093850 A009X40;D15S1477;G32961;G62641;L18426;RH121732;RH17485;RH68843;SGC34110 COBLR1;KIAA0977 COBL-like 1;OTTHUMP00000082583;OTTHUMP00000082584;OTTHUMP00000204691;cordon-bleu protein-like 1 APPROVED protein-coding ENSG00000082438 HGNC:23571 10844 610318 VALIDATED 1352630 COD2 cone dystrophy 2 (X-linked) ASSOCIATED WITH Cone-Rod Dystrophy, X-Linked, 2 (inferred); CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (inferred); SHAHEEN SYNDROME (inferred) 7240710 9199568 1275 HGNC:2182 300085;614576;615328 1318365 COCH cochlin The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008] 14 14 14 q11.2-q13 11209192 11225274 + 31343741 31364285 + 30874535 30895079 + 1600878;1580863;6480464;7240710;8554872;8699517 9806553 10400989;11295836;11568667;11574466;11709536;12477932;12843317;12928864;12975309;14501450;14512963;14718574;15579465;16835921;16951386;17138532;17264471;17368553;17561763;17926100;17944208;18312449;19013156;19098315;1910721;19161137;19657184;19933177;20105107;20228067;20237496;20301607;20447147;21046548;21774451;21886777;22139968;22268729;22610276;22931125;23660400;23993205;24063017;24275721;7829101;8417734;8817345;9441737;9931344 1690 G3V4C4;G3V5G6;G3V5V4;G3V5X3;H0YJJ0;H0YJW4;O43405 ABBA01061405;AF006740;AK123362;AK130273;AK292724;AL049830;AMYH02028942;AW629100;AY358900;AY916789;BC000640;BC007230;BC018827;CH471078;NG_008211;NM_001135058;NM_004086;U09203;XM_006720073 AAC39545;AAH07230;AAQ89259;AAW82432;BAC85316;BAF85413;BAG53895;EAW65963;EAW65964;EAW65965;NP_001128530;NP_004077;O43405;XP_006720136 Hs.21016 1768191;2107003;2177905 COCH__4606;D14S670E;WI-12411 COCH-5B2;COCH5B2;DFNA9 OTTHUMP00000178782;OTTHUMP00000244070;OTTHUMP00000244072;OTTHUMP00000244075;coagulation factor C homolog, cochlin (Limulus polyphemus) APPROVED protein-coding ENSG00000100473 HGNC:2180 04431 601369;603196 REVIEWED 1312123 COG1 component of oligomeric golgi complex 1 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 67772261 67787792 + 71189070 71204646 + 73193034 73208507 + 1580863;6480464;7240710;8699517;8554872 10718198;11929878;11980916;12477932;14702039;15047703;15489334;15561718;16020545;16857184;19008299;20301507;21139048;21906983;21963094;22505724;22939629;23956138;24250222;24816145;9927668 9382 E9PBL8;J3KRP4;J3KSY3;J3QKY9;J3QLT5;Q8WTW3 AB037802;ABBA01028870;ABBA01028871;ABBA01028872;AC097641;AK025633;AK098224;AL359611;AMYH02033958;BC021985;BC047465;BI667005;CH471099;NG_008971;NM_018714 AAH21985;AAH47465;ABM87028;BAA92619;BAG53597;CAB94881;EAW89113;EAW89114;NP_061184;Q8WTW3 Hs.103555 1666808;1788664;2159354;2173733 A004R48;RH18160;RH66230;SHGC-52397 CDG2G;DKFZp762L1710;KIAA1381;LDLB COG complex subunit 1;conserved oligomeric Golgi complex protein 1;conserved oligomeric Golgi complex subunit 1;low density lipoprotein receptor defect B complementing APPROVED protein-coding ENSG00000166685 HGNC:6545 07371 606973;611209 REVIEWED 1312615 COG2 component of oligomeric golgi complex 2 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] 1 1 1 q42.2 204044170 204095755 + 230778202 230829731 + 230642456 230693985 + 1580863;6480464 11929878;11980916;12477932;15047703;15489334;16406524;17274799;17975119;18187620;19023099;19105203;21139048;21890473;21906983;21963094;21987572;22939629;24250222;24816145;7750094;7962052 22796 B1ALW7;B7Z2Y2;B7Z7N2;Q14746;V9GY21 ABBA01033026;AK295251;AK302288;AK302791;AK312678;AL158214;AL832190;AMYH02002881;BC014960;BC051906;CD366946;CH471098;DB449302;DC349417;NM_001145036;NM_007357;S77362;Z34975 AAH14960;AAH51906;ABM83170;ABM86371;ABW03786;BAG35559;BAH12018;BAH13668;BAH13805;CAA84427;EAW69915;EAW69916;NP_001138508;NP_031383;Q14746 Hs.211800 1650964;1677248;1680445;1691866;1694882;1772745;1789028;1851778;2127338;2129569;2167265;2219056;5019046 AL033986;COG2__4608;G43535;G44322;G65647;RH36600;RH69588;RH70983;RH80403;RH94014;SHGC-35435;SHGC-76075;WI-18298 LDLC COG complex subunit 2;OTTHUMP00000035875;OTTHUMP00000035876;brefeldin A-sensitive, peripheral Golgi protein;conserved oligomeric Golgi complex protein 2;conserved oligomeric Golgi complex subunit 2;low density lipoprotein receptor defect C complementing;low density lipoprotein receptor defect C-complementing protein APPROVED protein-coding ENSG00000135775 HGNC:6546 07372 606974 REVIEWED 1312059 COG3 component of oligomeric golgi complex 3 This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011] 13 13 13 q14.13 27093707 27165437 + 46039030 46110833 + 45464895 45536698 + 1580863;6480464;8554872 10512869;10562277;11292827;11929878;11980916;12477932;12665801;15047703;15057823;15489334;16420527;18029348;18187620;19536132;22863883;22939629;24816145;8125298;8619474;9110174 83548 Q8TE06;Q96JB2 ABBA01050976;ABBA01050977;AF111707;AF131829;AF332595;AF349676;AK026305;AK026994;AK074374;AK225466;AK225952;AK294959;AK304248;AK314387;AL139326;AL606514;AMYH02027973;AMYH02027974;AMYH02027975;AMYH02027976;BC038953;BP396616;BX648211;CH471075;DC307455;NM_031431;XM_006719877;XM_006719878;XR_245400;XR_429222 AAH38953;AAK06848;AAK66974;AAM12423;BAG37012;BAG58033;BAG65115;EAX08741;EAX08742;EAX08743;NP_113619;Q96JB2;XP_006719940;XP_006719941 Hs.507948 1738375;1757855;1847503;1847505;2175542 A005X38;D13S507E;G20579;HSC2DD082;SHGC-146697 SEC34;p94 COG complex subunit 3;OTTHUMP00000018352;conserved oligomeric Golgi complex subunit 3;tethering factor SEC34;vesicle-docking protein SEC34 homolog APPROVED protein-coding ENSG00000136152 HGNC:18619 08443 606975 REVIEWED 1321515 COG4 component of oligomeric golgi complex 4 The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010] 16 16 16 q22.1 54970686 55013821 + 70514472 70557457 - 70480569 70523554 - 1580863;6480464;7240710;8554872;8699517 11703943;11929878;11980916;12477932;14702039;14759258;15047703;15342556;15489334;16344560;18187620;19494034;19536132;19651599;20301507;20936779;21145461;21890473;21900206;21906983;21963094;22939629;23383273;23956138;24816145 25839 E9PRT5;H3BMV9;H3BQB2;H3BSD2;J3KNI1;J3KRB5;J3QLW1;Q8N8L9;Q9H9E3 AB088369;ABBA01010657;ABBA01010658;ABBA01010659;ABBA01010660;ABBA01010661;AC106804;AK022874;AK026435;AK096557;AK293235;AK297557;AL050101;AMYH02032305;AMYH02032306;AMYH02032307;AU125729;BC000796;BC006306;BC013347;BC027726;BC072438;BC128144;BC128145;BP282697;BX648010;CH471241;NG_027529;NM_001195139;NM_015386;XM_006721174 AAH00796;AAH06306;AAH13347;AAH27726;AAH72438;AAI28145;AAI28146;BAB14286;BAB15483;BAC04816;BAC05682;BAG56773;BAG59950;CAB43272;EAW51806;EAW51807;EAW51808;EAW51809;EAW51810;EAW51811;EAW51812;EAW51813;NP_001182068;NP_056201;Q9H9E3;XP_006721237 Hs.208680 1667964;1667966;1676614;1686596;1736588;1764219;1778491;2136450;2218402 COG4_4609;D16S2583E;D16S2587E;RH64922;RH64977;SHGC-147852;SHGC-33776;STS-T86956;STS-T95317 CDG2J;COD1;DKFZp586E1519 COG complex subunit 4;OTTHUMP00000158637;complexed with Dor1p;conserved oligomeric Golgi complex protein 4;conserved oligomeric Golgi complex subunit 4 APPROVED protein-coding ENSG00000103051 HGNC:18620 08444 606976;613489 REVIEWED 1346233 COG6 component of oligomeric golgi complex 6 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] 13 13 13 q14.11 21282474 21418517 + 40229764 40365802 + 39655627 39791665 + 1580863;6480464;8699517;7240710;8554872 10574461;11703943;11929878;11980916;12477932;15047703;16020545;16051600;17220172;17331980;18369459;19651599;20301507;21078624;21807881;22797925;22883088;22939629;23057818;23606727;23956138;24250222;24390342;24816145;8889548 57511 F5GX38;F5GX76;F5H8M2;H0YGX8;Q9Y2V7 AB032960;ABBA01021305;ABBA01021306;ABBA01021307;ABBA01021308;ABBA01021309;ABBA01021310;AF116827;AK026638;AK294443;AK310953;AL512505;AL596306;AMYH02027901;AMYH02027902;BC027469;BC051723;BU675177;CH471075;CR627406;DC317375;NG_028352;NM_001145079;NM_020751;NR_026745 AAD29633;AAH51723;BAA86448;BAG57684;CAH10495;EAX08618;EAX08619;EAX08620;NP_001138551;NP_065802;Q9Y2V7 Hs.507805 1689598;1697388;1730722;1736370;1771917;1782820;1782824;1851986;1856110;2132006;5094979;7189371;7189375 COG6;D13S29;D13S872E;RH102193;RH44817;RH45178;RH92694;SHGC-111500;SHGC-112073;STS-N20848;STS-N25970 CDG2L;COD2;DKFZp313D191;KIAA1134;SHNS COG complex subunit 6;OTTHUMP00000018297;OTTHUMP00000018298;OTTHUMP00000018299;complexed with Dor1p 2;conserved oligomeric Golgi complex protein 6;conserved oligomeric Golgi complex subunit 6 APPROVED protein-coding ENSG00000133103 HGNC:18621 08445 606977;614576;615328 REVIEWED 1349178 COG7 component of oligomeric golgi complex 7 The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010] 16 16 16 p12.2 22177075 22241787 - 23399814 23464583 - 23388493 23453210 - 1600879;1580863;6480464;7240710;8554872 15107842 11929878;11980916;12477932;12975309;14702039;15047703;15231747;15342556;15489334;16051600;16420527;16510524;17356545;19536132;19577670;20301507;20360068;21139048;21319273;21903422;21906983;22863883;22939629;23956138;8619474;9110174 91949 I3L2R8;I3L337;P83436 ABBA01017817;ABBA01017818;AC008915;AF070568;AK093989;AK130714;AMYH02031700;AMYH02031701;AY358632;BC000549;BC037563;BP308365;CH471145;DB444997;NG_021287;NM_153603;R54036;XM_005255681;XR_429680 AAH00549;AAH37563;AAQ88995;BAC85411;BAG52793;EAW55830;EAW55831;EAW55832;NP_705831;P83436;XP_005255738 Hs.185807 1684080;1686594;1765037;2178818;2218404 COG7_4611;RH66656;RH70312;RH94293;SHGC-148582 CDG2E COG complex subunit 7;OTTHUMP00000120040;conserved oligomeric Golgi complex subunit 7 APPROVED protein-coding ENSG00000168434 HGNC:18622 07373 606978;608779 REVIEWED 1316049 COG8 component of oligomeric golgi complex 8 This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 53877064 53888066 - 69362524 69373526 - 69328621 69339623 - 1580863;6480464;7240710;8554872;8699517 11149922;11181995;11703943;11929878;11980916;12477932;14702039;15047703;15489334;17220172;17331980;18353293;19946888;20301507;20685960;21805148;21906983;21963094;22505724;22939629;8125298 84342 H3BQV3;H3BSH5;H3BUN2;J3QRV3;Q96MW5 ABBA01025526;ABBA01025527;AC026464;AK025968;AK056344;AK225391;AK302605;AMYH02032276;AMYH02032277;BC017492;BC063831;BC121022;BC121023;CH471092;DC374379;NG_009013;NM_032382 AAH17492;AAI21023;AAI21024;BAB15301;BAB71157;BAG63854;EAW83266;EAW83267;EAW83269;NP_115758;Q96MW5 Hs.130849 1662087;1689793;1757525 RH48796;SHGC-144957;SHGC-34961 CDG2H;DOR1;FLJ22315 COG complex subunit 8;OTTHUMP00000174890;conserved oligomeric Golgi complex subunit 8;conserved oligomeric golgi complex component 8;dependent on RIC1 APPROVED protein-coding HGNC:18623 07374 606979;611182 REVIEWED 1319696 COG5 component of oligomeric golgi complex 5 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011] 7 7 7 q31 101647486 102010231 - 106842189 107204959 - 107201744 107564514 - 1580863;6480464;7240710;8699517;8554872 10782044;11929878;11980916;12477932;12853948;14702039;15047703;16020545;16051600;16344560;17356545;18029348;18353293;19690088;19946888;20112360;20301507;20360068;20804914;20936779;21068099;21139048;21890473;21903422;21906983;22615457;22863883;22939629;23383273;23956138;24816145;9792665 10466 Q9UP83;U3KQU7 ABBA01057907;ABBA01057908;ABBA01057909;ABBA01057910;ABBA01057911;ABBA01057912;AC002381;AC004492;AC004855;AF058718;AK022835;AK123726;AK126275;AK314270;AMYH02016509;AMYH02016510;AMYH02016511;AMYH02016512;AMYH02016513;AMYH02016514;AMYH02016515;AMYH02016516;AU117533;BC068540;BF979561;BI545441;BI597200;CH236947;CH471070;DB165152;KF458547;KF458549;NG_028095;NM_001161520;NM_006348;NM_181733 AAB63816;AAC69276;AAC83406;AAH68540;ADR82754;BAG51122;EAL24392;EAL24393;EAW83395;EAW83396;EAW83397;NP_001154992;NP_006339;NP_859422;Q9UP83 Hs.239631 1335383;1339082;1655213;1660240;1660944;1760003;1771215;1775026;1789290;1797620;1851334;1855666;1858427;2115816;2116592;2120692;2128489;2132223;2136721;2136999;2142198;2156176;2185448;2189511;7186067 D7S1409;D7S1556;D7S1919;D7S2420;D7S2693;D7S496;G36374;G36375;G36376;G36377;G36379;G67880;G73140;GDB:1317192;GDB:1317530;GDB:1318342;GPR22_2242;RH12237;RH16458;SGC34252;SHGC-105100;STS-N63962;WI-16200;WI-17975 CDG2I;FLJ41732;FLJ44289;GOLTC1;GTC-90;GTC90 13S Golgi transport complex 90 kDa subunit;13S golgi transport complex 1 90 kDa subunit;COG complex subunit 5;OTTHUMP00000025513;OTTHUMP00000212361;OTTHUMP00000212362;conserved oligomeric Golgi complex protein 5;conserved oligomeric Golgi complex subunit 5;golgi transport complex 1 APPROVED protein-coding ENSG00000164597 HGNC:14857 08436 606821;613612 REVIEWED 1344926 COILP1 coilin pseudogene 1 14 14 14 q21.1 19718117 19720725 - 39853724 39856332 - 39384520 39387128 - 317784 ABBA01061553;AL157791;AMYH02029057;NG_002476 1744513 GDB:511566 COILP;coilin pseudogene pseudo HGNC:19927 INFERRED 735624 COIL coilin The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008] 17 17 17 q22 51477125 51499976 - 55015560 55038411 - 56938199 56961050 - 1580863;6480464 10751146;11102515;11302690;11641277;11790298;11792806;12361597;12477932;12482916;12679382;12757932;15302935;15489334;15635413;15862129;16079131;16219678;16565220;16687569;16713569;16964243;17081983;17088425;17461797;17577209;18322647;18391951;18439907;18677100;19435804;19471022;19946888;19997741;2033369;20360068;20449600;20546612;20875822;21070772;21139048;21289084;21693764;21832049;21890473;21906983;21963094;21991343;22053931;22178446;22558428;22586326;22797925;22878415;22939629;22986342;23064547;23274112;23383273;23455922;23726919;24550385;7490287;7679389;7829101;7860074;7971277;9013710;9513048;9644758;9679133 8161 I3L369;P38432 ABBA01041309;ABBA01041310;AC004584;AK313616;AMYH02033665;AW021880;BC010385;CH471109;M58411;NM_004645;U06632 AAA36412;AAB81550;AAH10385;ABM83853;ABM87175;BAG36378;EAW94522;NP_004636;P38432 Hs.532795 1744509;1775780;2119501;5115188;5126094;5128199 D17S1672;GDB:511422;RH16172;RH17979;SGC30276;SHGC-132087 CLN80;p80 coilin p80;p80-coilin APPROVED protein-coding ENSG00000121058 HGNC:2184 02605 600272 REVIEWED 1605760 COILP2 coilin pseudogene 2 4 4 4 q27-q28 121327428 121329783 + 123944889 123947245 + 123023734 123026090 + 494447 ABBA01044746;AC109357;AMYH02010024;NG_004786 COILP-2 pseudo HGNC:25389 INFERRED 735281 COL10A1 collagen, type X, alpha 1 This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008] 6 6 6 q21-q22 117183107 117190321 - 116440085 116447296 - 116118909 116158989 - 1600880;1580863;6480464;6484113;7240710;8554872;8699517 8004099 10436013;10991694;11115494;11805116;11839302;12477932;12554676;1397263;1397333;14574404;15464363;15695517;1587271;15880705;16598786;16806867;17009260;17072841;17335825;1743401;1764025;18553549;18759285;19116917;19180518;20073986;20225218;2037056;20569194;20872587;21360259;21447328;21665990;22015197;22894674;23455636;7607655;7749409;7876225;8012364;8220429;8304336;8554571;8782043;8986632;9049979;9067753;9101290;9525992;9837818;9852679 1300 Q03692;Q5QPC7;Q5QPC8 ABBA01026047;AL121963;AMYH02014349;BC130621;BC130623;BI521533;CA447328;CH471051;M74050;NG_008032;NG_021351;NM_000493;S68531;S73619;X58879;X60382;X65120;X72578;X72579;X72580;X98568;XM_006715332;XM_006715333 AAA61221;AAB31113;AAC60615;AAI30622;AAI30624;CAA41686;CAA42933;CAA46236;CAA51170;CAA67178;EAW48240;NP_000484;Q03692;XP_006715395;XP_006715396 Hs.520339 1644253;1662185;1743933;1743935;1791754;1794718;1795588;2186234;7185137 COL10A1__1174;GDB:376245;GDB:376260;PMC123659P1;PMC351321P2;RH46866;SHGC-35770;STS-X60382 OTTHUMP00000017049;OTTHUMP00000017050;OTTHUMP00000017051;Schmid metaphyseal chondrodysplasia;collagen X, alpha-1 polypeptide;collagen alpha-1(X) chain;collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia);procollagen, type x, alpha 1 APPROVED protein-coding ENSG00000123500 HGNC:2185 00357 120110;156500 REVIEWED 735396 COL11A1 collagen, type XI, alpha 1 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] 1 1 1 p21 101611302 101843503 - 103342023 103574052 - 102876467 103108496 - 1600881;1580863;6480464;6484113;6907045;7240710;8554872;8699517 9529347 10486316;10573014;10889003;11707154;11709013;11780999;12477932;12673280;12805369;15286167;15922184;16344560;1690726;17016581;17236192;17999364;18040076;18203646;18280717;18464913;19180518;19306436;19337631;19351187;19723327;19913121;19949890;20083228;20301479;20416094;20433912;20513134;20628086;20634891;20672350;21035103;21527992;21668896;22189268;22322826;22499343;22504420;22510797;22660580;22922875;23497244;23505305;23922384;23934190;24474268;24636772;24854855;2591970;3182841;3220479;7560887;7721876;7814404;8388073;8872475;9659900 1301 C9JMN2;H7C381;P12107;Q59HB5 AB208844;ABBA01045414;ABBA01045415;ABBA01045416;ABBA01045417;ABBA01045418;AC093150;AC099567;AF017809;AF101112;AK299025;AL627203;AMYH02001579;AMYH02001580;AMYH02001581;AMYH02001582;AU118365;AY705366;AY705367;AY705368;AY705369;AY705370;AY744914;AY870934;AY870935;AY870936;AY870937;AY870938;AY870939;AY870940;AY870941;AY870942;BC117697;BU159588;BX476821;CA448616;CH471097;DQ097164;J04177;JC258764;JC303403;KC876896;L38956;NG_008033;NM_001190709;NM_001854;NM_080629;NM_080630;U12139 AAA51891;AAA79171;AAF04724;AAF04725;AAF04726;AAI17698;AAN86608;AAU88421;AAW47652;AAW47653;AAW47654;AAW47655;AAW47656;AAW65382;AAW65383;AAW65384;AAW65385;AAW65386;AAW65387;AAW65388;AAW65389;AAW65390;AAZ06348;BAD92081;BAG61102;CDM55401;CDM55582;EAW72908;EAW72909;EAW72910;EAW72911;EAW72912;EAW72913;NP_001177638;NP_001845;NP_542196;NP_542197;P12107 Hs.523446 1687660;1691816;1693012;2118393;2119494;2139553;2150562;2153080;2164273 AL033959;AL034233;Cda1db02;D1S3215;RH98519;SHGC-35204;SHGC-75227;SHGC-75242;WI-15584 CO11A1;COLL6;STL2 OTTHUMP00000012567;OTTHUMP00000218241;collagen XI, alpha-1 polypeptide;collagen alpha-1(XI) chain;procollagen, type xi, alpha 1 APPROVED protein-coding ENSG00000060718 HGNC:2186 00375 120280;154780;228520;603932;604841 REVIEWED 1350403 COL11A2 collagen, type XI, alpha 2 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009] 6 6 6 p21.3 34684835 34714611 - 33130469 33160245 - 33162692 33192468 - 1600883;1580863;6480464;6484113;6907045;7240710;8554872;8699517 10677296 10581026;11289713;11341341;11780999;12477932;12554743;12673280;14574404;15558753;15922184;16033917;16133074;16609882;16734381;17471097;17703188;18040076;18193043;18309376;18381781;18469698;18830248;19180518;19204726;19615732;19851445;19913121;20301479;20301607;20618517;20628086;20634891;20672350;21204229;21293383;21900206;22112025;22246659;22796475;22808956;23624467;23740775;24097066;2591970;2760050;7559422;7560887;7721876;7836472;7859284;8325374;8663204;8838804;9101290;9106521;9188673;9506662;9585596;9805126 1302 A2AAS7;H0YIS1;P13942;Q4VXY6;Q6ZNN4 ABBA01038137;AK130938;AL031228;AL645940;AL662824;AL844527;AL845446;AMYH02013481;BC053886;BX248309;CH471081;CR354565;CR759733;CR936877;J04974;L18987;NG_011589;NM_001163771;NM_080679;NM_080680;NM_080681;U32169;U41065;U41067;U41068;U41069 AAA35498;AAA52034;AAC17464;AAC17465;AAC50213;AAC50214;AAC50215;AAH53886;BAC85467;CAA20240;CAI95623;CAI95624;EAX03676;EAX03677;EAX03678;NP_001157243;NP_542410;NP_542411;NP_542412;P13942 Hs.390171 1774365;1798114;1851301;2127833;2146148;2149697;2217174 COL11A2_536.2;G10518;RH46226;RH69971;RXRB_2036;SHGC-35646;SHGC-56505 DFNA13;DFNB53;FBCG2;HKE5;PARP;STL3 OTTHUMP00000029040;OTTHUMP00000178607;collagen alpha-2(XI) chain;pro-a2 chain of collagen type XI APPROVED protein-coding ENSG00000204248 HGNC:2187 00376;09049 120290;184840;215150;277610;601868;609706;614524 REVIEWED 1343549 COL11A2P1 collagen, type XI, alpha 2 pseudogene 1 6 6 6 p21.32 34625938 34629189 - 33071470 33074921 - 33103693 33107144 - 394214 ABBA01038137;AL645931;AL662824;AL845446;AMYH02013477;BX120009;CR759795;CR759904;CR847849;CT009497;NG_007926 1756461 SHGC-143467 COL11A2P;cD0826Q1.1 APPROVED pseudo HGNC:13947 INFERRED 735743 COL12A1 collagen, type XII, alpha 1 This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 6 6 6 q12-q13 76187813 76309373 - 75794042 75915623 - 75084326 75206051 - 1580863;6480464;6484113;8554872 10066359;11697796;12045897;12477932;12890494;1427837;14702039;15342556;15609093;16284948;16344560;17960519;19443461;19648885;20453000;21139048;22573329;22969073;23013106;23624467;24262153;2668306;3476925;8207089;9129225;9143499;9344363;9826181 1303 D6RGG3;H0Y4P7;H0Y5N9;H0Y991;Q99715 ABBA01040354;ABBA01040355;ABBA01040356;AF061871;AI752603;AJ420501;AK057081;AK307558;AL080250;AL096771;AL354664;AMYH02013930;BC034715;BC050587;BC146868;BP286308;CH471051;DA661773;KF458206;NM_004370;NM_080645;U68139;U73778;U73779;XM_006715334 AAC01506;AAC51244;AAC83578;AAD40483;AAH50587;AAI46869;EAW48748;EAW48749;EAW48750;NP_004361;NP_542376;Q99715;XP_006715397 Hs.101302 1653335;1674260;1707982;1750219;1777944;1795590;2123963;2159532;2184521 COL12A1_1592;D6S1478;RH47329;RH48075;SHGC-112458;SHGC-33702;SHGC-84655;STS-U73778;STS-W72891 BA209D8.1;COL12A1L;DJ234P15.1 OTTHUMP00000016752;OTTHUMP00000016753;OTTHUMP00000219428;OTTHUMP00000219466;collagen alpha-1(XII) chain;collagen type XII proteoglycan;collagen, type XII, alpha 1-like;procollagen, type xii, alpha 1 APPROVED protein-coding ENSG00000111799 HGNC:2188 00377;00378 120320 REVIEWED 1607090 COL13A1 collagen, type XIII, alpha 1 This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] 10 10 10 q22 64838564 64996131 + 71561644 71718904 + 69801883 69959148 + 6480464;6484113;8554872 10429945;10713152;10865988;11956183;12477932;12832406;1447209;1447210;15146197;16341674;16368877;16385451;1698771;1894651;19851296;20198315;20708005;23793441;2459707;2767682;3547403;8246446;9624150 1305 E7ES50;E7EX21;H7BYT9;H7BZB6;Q5TAT6 ABBA01019610;ABBA01019611;ABBA01019612;AC024601;AC025426;AF071009;AI741175;AJ293624;AK124476;AL138925;AMYH02023274;AMYH02023275;AMYH02023276;BC136385;BC139913;BM744248;BY796799;CH471083;CN297094;M15524;M20795;M20796;M20797;M20798;M20799;M20800;M20801;M20802;M20803;M20804;M20805;M33653;M59217;M69008;NM_001130103;NM_080798;NM_080800;NM_080801;NM_080802;NM_080805;XM_006717632 AAA51685;AAA51987;AAA51988;AAA51989;AAA51990;AAA51991;AAA52047;AAA52048;AAA52754;AAD48082;AAI36386;CAC00688;EAW54333;EAW54334;EAW54335;EAW54336;EAW54337;EAW54338;EAW54339;EAW54340;EAW54341;EAW54342;EAW54343;EAW54344;EAW54345;EAW54346;EAW54347;EAW54348;EAW54349;EAW54350;EAW54351;EAW54352;EAW54353;EAW54354;EAW54355;EAW54356;EAW54357;EAW54358;EAW54359;EAW54360;EAW54361;EAW54362;EAW54363;EAW54364;EAW54365;EAW54366;EAW54367;EAW54368;EAW54369;EAW54370;NP_001123575;NP_542988;NP_542990;NP_542991;NP_542992;NP_542995;Q5TAT6;XP_006717695 Hs.695934 1341122;1674347;1730996;1731022;1731032;1742225;1757183;1797418;2153989;5126088 COL13A1_2653;D10S1648;D10S2293;D10S264;D10S336;D10S451;GDB:193858;RH78936;SHGC-144605;SHGC-35303 COLXIIIA1;FLJ42485 OTTHUMP00000019731;OTTHUMP00000019732;OTTHUMP00000019733;OTTHUMP00000227633;OTTHUMP00000227634;OTTHUMP00000227635;OTTHUMP00000227636;OTTHUMP00000227637;collagen alpha-1(XIII) chain APPROVED protein-coding ENSG00000197467 HGNC:2190 00383 120350 REVIEWED 1314064 COL14A1 collagen, type XIV, alpha 1 This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013] 8 8 8 q23 117326467 117573360 + 121137347 121384273 + 120125108 120373472 + 1580863;6480464;6484113;8554872 10393435;10646805;12477932;14702039;15065570;15146197;15489334;15609093;16129687;16421571;1716629;17960519;19136672;20379614;21139048;21832049;2187872;22573329;22972947;24324551;7842743;8135774;8756762;8986622;9092299;9252349;9427527 7373 H0YBB2;J3QT75;J3QT83;Q05707;Q4G0W3 ABBA01037833;ABBA01037834;ABBA01037835;ABBA01037836;AC020603;AC090736;AC107877;AK021997;AK293080;AK307716;AK311498;AMYH02018682;AMYH02018683;AMYH02018684;BC014640;BC036192;BC083495;BC140893;BQ717750;BX472674;CH471060;CN261527;M64108;M64109;NG_033107;NM_021110;XM_005251059;XM_006716651;Y11709;Y11710;Y11711 AAA36794;AAA36795;AAH14640;AAH36192;AAH83495;AAI40894;BAF85769;CAA72401;CAA72402;CAA72403;EAW91998;EAW91999;EAW92000;EAW92001;EAW92002;NP_066933;Q05707;XP_005251116;XP_006716714 Hs.409662 1336341;1654740;2116351;2217176 COL14A1_3311;D8S586;RH66839;WI-18017 UND OTTHUMP00000194886;OTTHUMP00000194889;collagen alpha-1(XIV) chain;collagen, type xiv, alpha 1 (undulin);undulin (fibronectin-tenascin-related) APPROVED protein-coding ENSG00000187955 HGNC:2191 00379 120324 REVIEWED 1321941 COL15A1 collagen, type XV, alpha 1 This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013] 9 9 9 q21-q22 72220009 72346936 + 101705995 101833074 + 98943713 99070792 + 1580863;6480464;6484113 10049780;10791950;10891348;11068203;11937714;1279671;1427836;14702039;15164053;15698950;17355226;18171981;18203317;18549324;19056867;19322201;19365806;19834535;20040604;20932905;21963094;22034088;22531369;23621901;23912340;8106446;8307960;8929352;9176399;9651385 1306 B3KTP7;P39059 ABBA01042904;ABBA01042905;AF261108;AK095885;AK308438;AL136084;AL354923;AMYH02021327;AMYH02021328;BX337171;CH471105;D21230;DB452324;HY016428;L01697;L25280;L25281;L25282;L25283;L25284;L25285;L25286;NM_001855 AAA58429;AAC78500;AAI57095;BAA04762;BAG53159;EAW58899;EAW58900;EAW58901;EAW58902;EAW58903;EAW58904;NP_001846;P39059 Hs.409034 1334604;1716141;1725295;1753901;1765439;1772743;1855736;2121102;2126749;2218406;7187437 A003P31;COL15A1_538;D9S1092;D9S2019;D9S272;RH118965;RH121036;RH79095;SHGC-108127;SHGC-148925 FLJ38566 OTTHUMP00000021782;collagen XV, alpha-1 polypeptide;collagen alpha-1(XV) chain;collagen type XV proteoglycan;endostatin-XV;restin APPROVED protein-coding ENSG00000204291 HGNC:2192 00380 120325 REVIEWED 1322191 COL16A1 collagen, type XVI, alpha 1 This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008] 1 1 1 p35-p34 30387074 30438996 - 32117848 32169768 - 31652247 31704167 - 1580863;6480464;6484113;8554872 12477932;12782140;1284248;15165854;1631157;16710414;16754661;17549794;18804107;19913121;19931388;20628086;21251976;22716248;23149016;24466237;7836360;7882999;9022684 1307 A6NCT7;H7BY97;H7BZL8;H7C3F0;Q07092 AB209571;ABBA01023454;AC114488;AF370368;AMYH02000686;BC064839;CH471059;M92642;NM_001856;R54778;S57132;X14963;X15038;XM_005270481 AAA58427;AAB25797;AAI67814;AAQ15204;BAD92808;CAA33085;CAA33142;EAX07595;EAX07596;EAX07597;NP_001847;Q07092;XP_005270538 Hs.368921 1658788;1658959;1781756;1795592;2118250;2148651;5020300 COL16A1_1437;G15937;RH69199;SHGC-155471;SHGC-35321;STS-M92642;STS-W96115 447AA;FP1572 OTTHUMP00000003955;alpha 1 type XVI collagen;collagen XVI, alpha-1 polypeptide;collagen alpha-1(XVI) chain APPROVED protein-coding ENSG00000084636 HGNC:2193 00381 120326 REVIEWED 1322425 COL17A1 collagen, type XVII, alpha 1 This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008] 10 10 10 q24.3 99531633 99586511 - 105791046 105845638 - 104031288 104085880 - 1600884;6480464;6484113;7240710;8554872;8699517 7550320 10022517;10321838;10577906;10637308;10652291;10671979;10756096;10811835;10951237;11514543;11739652;11912005;12356719;12421765;12477932;12482924;12802069;1324962;14562173;14668477;14962091;14962097;14987253;15009107;15047704;15081423;15161638;15164054;15489334;15609083;15734283;16117787;16354180;16385451;16387484;16417243;16487966;16580182;16757171;16899459;17443672;1748679;17545155;17555727;17657247;17920818;18055190;18571472;18992722;19158842;19340010;19422829;19812601;19834535;19945617;20089696;20301304;20301481;20379614;2045679;20471095;21034821;21305504;21348951;21357940;21801871;21906983;22457199;22688676;22775995;23227089;23337823;24005051;24330315;7916703;8662839;8669466;9012408;9038345;9087447;9199555;9204958;9457913;9500991;9521878;9660880;9665393;9740252 1308 A2A2Y8;H0Y420;Q9UMD9 AB900157;ABBA01063087;AF136185;AF136186;AK309940;AL138761;AMYH02023733;AU076442;BC004478;CH471066;D63465;M63730;M91669;NG_007069;NM_000494;U76564;U76565;U76566;U76567;U76568;U76569;U76570;U76571;U76572;U76573;U76574;U76575;U76576;U76577;U76578;U76579;U76580;U76581;U76582;U76583;U76584;U76585;U76586;U76587;U76588;U76589;U76590;U76591;U76592;U76593;U76604 AAA35605;AAA51839;AAB51499;AAH04478;AAI68368;BAO31681;EAW49612;EAW49613;EAW49614;NP_000485;Q9UMD9 Hs.117938;Hs.732773 1654353;1660726;1797420 COL17A1_2511;RH71257;STS-AA034033 BA16H23.2;BP180;BPA-2;BPAG2;FLJ60881;KIAA0204;LAD-1 180 kDa bullous pemphigoid antigen 2;OTTHUMP00000020422;OTTHUMP00000020424;alpha 1 type XVII collagen;bA16H23.2 (collagen, type XVII, alpha 1 (BP180));bullous pemphigoid antigen 2 (180kD);collagen XVII, alpha-1 polypeptide;collagen alpha-1(XVII) chain;type XVII collagen alpha-1 APPROVED protein-coding ENSG00000065618 HGNC:2194 00223 113811;226650 REVIEWED 736032 COL18A1 collagen, type XVIII, alpha 1 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 21 21 21 q22.3 31935820 32044503 + 46825058 46933634 + 45405182 45513720 + 1600910;1600887;1600901;1600885;1600906;632362;70690;1580863;6480464;6484113;7240710;8554872;8699517 10766159;11353854;11592600;12415512;15739185;16437622;17011522 10544250;10716919;10830953;10942434;11158588;11336704;11517600;11606364;11700031;11781696;11815623;11911017;11937714;12023034;12029087;12174873;12209593;12231538;12237301;12408231;12458056;12477932;12479859;12486154;12581742;12682293;12693719;12839947;12857600;14514474;14519482;14614989;14695535;14702039;14732364;14760864;14973128;15014038;15146197;15148373;15231747;15296943;15328173;15334690;15374730;15464359;15489334;15540202;15605080;15662127;15694132;15735323;15950618;15985216;16008891;16025479;16269408;16320826;16358965;16466644;16793908;16807676;16866623;16998835;17011029;17067672;17482599;17526870;17544408;17546652;17587451;17615292;17653045;18006826;18029348;18054814;18345385;18360823;18381814;18382662;18478248;18676680;18818971;19056867;19074676;19084038;19127216;19160445;19170196;19223770;19298526;19390655;19431146;19542224;19585274;19615205;19622587;19625176;19631658;19692168;19877579;19961619;20027339;20063989;20156196;20346360;20361288;20396759;20562859;20616167;20819778;21085708;21193414;21233699;21457400;21486700;21527992;21771176;21815140;21896479;21963851;21968021;22009965;22268729;22303445;22431315;22461898;22512651;22733742;22745009;22819906;23443559;23605255;23621901;23641912;23667181;23912396;23958573;24021340;24030549;24089677;24393402;24998915;8183893;8188291;8776601;9008168;9503365;9724722 80781 D3DSM4;D3DSM5;H7BXV5;H7C457;P39060 ABBA01074197;ABBA01074198;ABBA01074199;ABBA01074200;ABBA01074201;ABBA01074202;AF018081;AF018082;AF184060;AF333246;AF333247;AF416592;AK098216;AK130835;AL163302;AMYH02037931;AMYH02037932;AMYH02037933;AY484971;BC033715;BC063833;BX322561;BX322562;BX322563;CH471079;CN389577;KF457341;KF457343;KF511425;L22548;NG_011903;NM_030582;NM_130445 AAA51864;AAC39658;AAC39659;AAF01310;AAH33715;AAH63833;AAK50626;AAL37720;AAR83296;AAR83297;AAR83298;CAB90482;EAX09338;EAX09339;EAX09340;EAX09341;EAX09342;EAX09343;EAX09344;NP_085059;NP_569712;P39060 Hs.517356 1656073;1672188;1675317;1701690;1790617;1790661;1790663;1797422;5014053 COL18A1_540.2;D1S3693;RH98711;SHGC-12530;SHGC-8080;SHGC-87711;STS_CEB248;STS_CEB286;STS_CEB287 FLJ27325;FLJ34914;KNO;KNO1;KS;MGC74745 OTTHUMP00000115472;OTTHUMP00000115473;antiangiogenic agent;collagen alpha-1(XVIII) chain;endostatin;multi-functional protein MFP APPROVED protein-coding ENSG00000182871 HGNC:2195 00382 120328;267750 REVIEWED 1350562 COL18A1-AS1 COL18A1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 21 21 21 q22.3 31950394 31955748 - 46839631 46844985 - 45419716 45425070 - 8554872 12477932;14702039;15489334;20494980;22745009 378832 ABBA01074197;AK096071;AMYH02037931;BC111539;BC111540;BX322563;CH471079;HG511922;HG511923;KF457341;NG_011903;NR_027498;NR_028082 AAI11540;AAI11541;BAC04694;EAX09345 Hs.517353 C21orf123;MGC129884;MGC129885;NCRNA00175;PRED80 APPROVED ncrna ENSG00000183535 HGNC:23132 10736 VALIDATED 6766705 COL18A1-AS2 COL18A1 antisense RNA 2 21 21 46827301 46829980 - 45407386 45410065 - 100874236 ABBA01074197;AMYH02037931;BX322562;BX322563;HG511921;KF457343;NR_052004 Hs.589901 BX322563.3 APPROVED ncrna ENSG00000224574 HGNC:40155 VALIDATED 734049 COL1A1 collagen, type I, alpha 1 This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] 17 17 17 q21.33 44722303 44739829 - 48261457 48279003 - 50184096 50201642 - 734802;734801;734803;1580863;1601595;2292195;5131854;5688302;5688298;6480464;5688331;5688333;5688339;5688293;5688297;5688305;5688341;5688300;5688295;5688336;5688332;5688296;5688304;5688335;5688330;5688301;5688299;5688306;5688337;6484113;6907045;7240710;7257543;8552768;8552655;8552779;8552674;7241803;8552675;8552776;8552771;8552713;2308807;8552656;8552676;8552709;8552710;8552654;8552657;2290351;8552658;8552669;5130894;8552699;8552700;8552780;8552684;8552731;8552672;8552673;8554872;8699517 10743824;11420783;12412812;12641779;15081423;15161848;15469929;15727634;15880349;15994869;16009107;16428894;1670041;1697606;17187661;17241878;17309652;17489845;17557158;17939044;17977875;18694864;18836165;19019833;19180518;19246678;19714363;19797236;20056896;20375326;20456365;20479531;20660018;20818932;21274875;21295105;21354048;21769867;21926544;22094456;22153773;22565191;22690110;22706148;22824087;22903132;23703580;23958495;7511187;7700025;7723234;8432871;9295084;9448299;9811048 10408781;10446987;10627137;10739762;10772928;10778855;11085801;11090261;11122085;11136533;11143996;11173011;11204438;11230734;11283002;11303720;11311202;11316004;11359786;11368514;11383910;11432962;11508783;11547828;11547832;11566920;11668615;11683425;11685422;11716195;11731270;11752017;11792589;11847210;11856343;11867580;11874231;11907712;11973338;12016463;12016466;12034531;12034705;12069607;12072442;12073153;12096841;12099690;12101112;12107666;12127408;12138160;12149247;12164934;12180907;12185380;12200454;12211646;12232678;12358155;12393937;12477932;12491092;12524166;12575457;12584032;12590186;12660034;12735930;12753258;12787275;12803121;12810179;12868700;12879219;1303238;1339453;1377218;1409674;14506618;14528100;14562991;14595528;1460047;14613485;14633859;14643521;14672895;1468447;14722584;14734826;14749390;14976317;15049048;15085313;15095409;15101818;15106082;1511982;15133851;15211650;15227656;15241219;15241796;15256976;15365990;15466008;15489334;15514164;15514891;15552843;15570400;15581348;15592793;15638371;15728585;15781005;15788405;15794927;15805113;15950180;15952128;15965952;15966503;16001263;16009674;16102727;1613761;16159929;16171977;16173077;16263577;16272059;16278217;1634225;16407265;16410344;16458627;16475872;16498072;16521042;16540720;16580273;16622736;16705691;16713399;16723701;16804049;16815299;16831952;16835341;16864092;16869454;16911569;16934803;1693626;16988190;17019952;17021946;17028262;17100549;17118335;17135298;17140440;1715582;17179726;17187960;1718984;17201588;17211858;17252541;17273809;17276428;17303000;1730778;17331078;17332715;1737847;17392686;17460886;17551768;17554369;17576241;17698844;1770532;17766609;17875077;17876648;1787829;17889845;17903305;17950782;17991736;18024269;18028452;18069662;18089612;18226133;18298657;18306915;18311573;18323784;18353721;18361931;18375391;18379465;18380967;18401458;18412368;18536987;18550494;18551240;18553566;18580957;18619040;18634290;18644377;18669583;18669982;18670065;18681778;18682895;18703872;18704262;18709850;1870989;1874719;18787532;18818748;18925325;1895312;18996919;19016596;19019335;19031824;19071236;19082910;19110771;19143970;19145934;19172220;19193663;19193665;19206162;19255718;19259350;19260140;19299182;19306436;19322201;19341834;19358256;19387081;1939261;1939645;19418583;19429913;19453261;19465003;19491628;19506792;19527514;1953667;19558215;19595020;19635106;19655227;19675556;19718407;19734317;19751715;19789904;19813243;19861282;1988452;19890351;19893454;19913121;19913496;19929435;19932771;1995349;20015871;20045402;20061935;20063990;20087402;2010058;20133221;20140262;20146006;20146870;20181574;20191437;20235194;20237151;20301422;20301472;2035536;20359090;2036375;20369485;2037280;20379614;20406730;20435445;20444423;20452482;20463013;20489157;20509788;20532479;20543003;20571774;20628086;20651840;20673868;20693403;20704113;20721936;20724381;20730440;20736093;20798928;20961463;21029365;21033393;21042785;21085489;21095332;21111450;21113976;21134900;21139048;21163673;2116413;21178584;21215393;21302452;21311138;21336691;21341209;21343850;21344539;21405976;21462477;21535073;21558934;21564311;2156854;21602843;21647970;21667357;2169412;21702901;21713451;21746880;21764694;21777208;21834035;21935919;21963094;21970315;22054507;22057139;2211725;22130917;22139845;22174012;22190259;22210296;22219633;22249249;22297492;22337942;22367096;22379029;22422640;22434650;22479424;22489040;22576977;22645275;22679784;22694915;22829018;22855962;22871215;22939629;2295701;22987783;22990118;22999338;23006423;23013730;23040566;23068445;23079818;23137636;23159876;23168334;2318855;23199263;23207290;23276824;23314748;23338998;23341452;23344861;2339700;23418565;23418792;23517059;23529829;23546968;23548228;23592926;23601588;23624467;23639859;23653354;23692737;23731614;2374517;23749290;23763354;23800666;23906792;23918805;23941072;24038457;24072491;24088220;24170657;24227918;24286194;24289089;24398012;24434151;2446864;24566004;24637022;2468670;2470760;24711029;24736615;24767406;24802400;24928016;2511192;25119913;2745420;2745554;2767050;2777764;2794057;2822714;2843432;2857713;2913053;2981843;3016737;3082886;3108247;3170557;3178743;3244312;3264153;3340531;3403550;3480516;3490481;3571333;3667599;3722186;3857213;3857621;3872140;4319110;5529814;6183642;6292910;6320112;6462220;6689127;7034958;7499207;7520724;7679635;7691343;7852349;7881420;7945553;7961597;7982948;8019571;8094076;8097422;8100209;8223589;8339541;8349697;8349698;8364588;8456808;8456809;8468356;8552450;8669434;8723681;8786074;8841196;8900172;8988177;9016532;9028946;9067755;9101290;9101304;9143923;9169408;9239397;9280292;9295288;9443882;9600458;9639571;9659899;9675033;9733643;9878537 1277 I3L3H7;P02452 AB209597;ABBA01041231;ABBA01041232;AC015909;AF017178;AK297731;AMYH02033586;BC036531;CH471109;J00110;J00111;J00112;J00113;J02829;J03559;JC011917;JC258750;JC303389;JQ236861;K01228;K03179;KF459573;M10627;M11162;M20789;M23213;M32798;M36546;M55998;NG_007400;NM_000088;S58915;S64596;X00299;X00820;X06269;X07884;XM_005257058;XM_005257059;XM_006721703;Z74615 AAA51847;AAA51992;AAA51993;AAA51995;AAA52036;AAA52049;AAA52052;AAA52289;AAA52290;AAA52291;AAA60150;AAA75386;AAB26324;AAB27856;AAB59363;AAB59373;AAB94054;AAH36531;AAN86574;ABM84497;ABW03370;AFD28984;BAD92834;BAH12658;CAA25082;CAA25394;CAA29605;CAA30731;CAA98968;CDL93516;CDM55394;CDM55575;EAW94630;EAW94631;NP_000079;P02452;XP_005257115;XP_005257116;XP_006721766 Hs.172928;Hs.681002 1660169;1728937;1741099;1741289;1741393;1788452;1794696;1795594;2125820;2167488;2182979;2189425;2191695;5015760 COL1A1_1682;Col1a1;GDB:177260;GDB:177792;GDB:180347;GDB:180975;MARC_5219-5220:996690145:1;MARC_5785-5786:991939715:3;PMC34669P1;RH45119;RH77855;SGC32927;WI-18942;fj67h06.x1 OI4 OTTHUMP00000192905;alpha-1 type I collagen;collagen alpha 1 chain type I;collagen alpha-1(I) chain;collagen alpha-1(I) chain preproprotein;collagen of skin, tendon and bone, alpha-1 chain;pro-alpha-1 collagen type 1 APPROVED protein-coding ENSG00000108821 HGNC:2197 00362 114000;120150;130000;130060;166200;166210;166220;166710;259420 REVIEWED 730984 COL1A2 collagen, type I, alpha 2 This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] 7 7 7 q22.1 88722142 88758790 + 94023873 94060544 + 94394561 94431232 + 1581196;1581197;1581198;1581199;704404;734805;734804;1580863;704405;6480464;6484113;6907045;7240710;7257536;7257543;7257539;7248773;7257542;7248772;5688341;7257544;8554872;8699517 11786959;14739420;15077201;16705691;16816023;17916675;20150539;20660018;2567784;2993307;7511187;7512265;8446583;8745212 10329688;10408781;10627137;10722718;10734230;10772928;10778855;11143996;11311202;11359786;11668615;11836364;11867580;11986307;12034705;12101112;12160476;12200454;12393755;12424255;12477932;12702564;12759229;12813128;1284475;12879219;12968017;1303238;1339453;1358799;1362870;1377218;1385413;1409674;14555266;1468447;15085313;15149860;15211650;15241796;15345715;15365990;15389632;15489334;15514164;15516691;15581348;15599596;15609325;15741186;1577745;15788405;15818662;15862967;15917161;15982862;15983038;16036621;16091368;16192463;16278217;16285730;16289162;16316921;1642148;16463783;16564026;16702209;16849317;16864092;1693626;17072841;1711048;17142024;17146610;1715582;17211858;17217948;1730778;17334644;1740554;17407139;17459242;17620151;17653508;17875077;17884818;17903307;17955022;18093617;18284430;18298657;18323784;18375391;18434090;18570923;18644377;18664619;1874719;18791848;18818748;1895312;18996919;19015742;19035720;19180518;19208385;19282863;19289304;19395477;1939645;19424577;19426706;19491193;19527514;19559927;19565505;19578796;19594296;19679847;19705750;19714363;19790048;1990009;19913121;19929435;19932771;20087402;2010058;20102701;20140262;20301472;20452482;20463013;20466318;2052622;20628086;2064612;20673868;20721936;20736093;20837772;20961463;21044367;21139048;21163673;2129528;21341209;21344539;21405976;21443102;21530898;2156854;21602843;21665180;21667357;21746880;22028813;22049076;22130917;22131293;22379029;22449649;22610502;22674299;22773346;22796342;22815632;22990118;23036172;23079621;23227268;23398456;23546968;23548243;2364107;23692737;2375748;23800505;23849651;23918805;2394758;24042342;24058639;24140640;24324551;24434151;2454224;24641356;24709079;2777764;2824475;2839839;2897363;2914942;3372533;3403536;3421913;3490481;3680255;3857213;3872140;4011429;4412529;5529814;6087329;6092353;6267597;6309769;6321602;6501291;6687691;7034958;7346227;7520724;7688497;7693712;7720740;7749416;7852349;7860070;7881420;7891382;7906591;7945553;7959683;8081394;8094076;8125298;8182080;8401517;8444468;8456807;8456808;8468356;8552450;8723681;8800927;8829649;8829655;8841196;8889548;8900172;8982144;9016532;9028946;9101290;9239397;9280292;9295288;9443882;9675033;9878537 1278 P08123 AA457209;AB004317;ABBA01045783;ABBA01045784;AC002074;AC002528;AF004877;AK223175;AK226074;AK297786;AK300194;AK309504;AL833478;AMYH02016285;BC042586;BC054498;CF125721;CH236949;CH471091;J00114;J03464;JC011919;JC258752;JC303391;K01078;K02568;L47668;M21353;M21671;M22816;M22817;M28985;M35391;M64229;NG_007405;NM_000089;S41099;S96821;S98904;V00503;X02488;X55525;Y00724;Z74616 AAA51844;AAA51846;AAA51850;AAA51887;AAA51996;AAA52050;AAA52053;AAA59994;AAA60041;AAA60356;AAB22020;AAB22126;AAB22761;AAB59374;AAB59577;AAB69977;AAB93981;AAH42586;AAH54498;AAS02025;BAA25383;BAG60128;BAG61967;CAA23761;CAA26320;CAA39142;CAA68709;CAA98969;CDL93517;CDM55395;CDM55576;EAW76794;EAW76795;EAW76796;NP_000080;P08123 Hs.489142 1338803;1654389;1695052;1721681;1735696;1741291;1741293;1742317;1743665;1779138;1795596;1849483;2121283;2121285;2122876;2135874;2179438;2185719;5015760;5015895;5022651;5112005;5112007;5117134;5117148;7186343 A005A20;COL1A2;COL1A2_1224;COL1A2mfd;D11S2921;D7S2150E;D7S2763;G15893;G20262;G44337;G44345;G44756;G59702;GDB:1318591;GDB:177260;GDB:180348;GDB:180350;GDB:196334;GDB:365711;GDB:366514;GDB:438113;GDB:439267;SHGC-56147;SHGC-56152;WI-11486 OI4 OTTHUMP00000192906;alpha 2(I)-collagen;alpha-2 type I collagen;collagen I, alpha-2 polypeptide;collagen alpha-2(I) chain;collagen of skin, tendon and bone, alpha-2 chain;type I procollagen APPROVED protein-coding ENSG00000164692 HGNC:2198 00363 120160;130060;166210;166220;166710;225320;259420 REVIEWED 1346873 COL1AR collagen, type I, alpha, receptor 2840666 1279 HGNC:2199 120340 1318965 COL19A1 collagen, type XIX, alpha 1 This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008] 6 6 6 q12-q13 70964842 71310558 + 70576448 70922157 + 69866556 70212454 + 1580863;6480464;8554872 12477932;12788917;14574404;15383545;15489334;1639419;18845531;20339536;20379614;21145461;23382691;7775380;7916703;8034603;8889548;9143499;9202028;9344653 1310 Q14993;Q5JVU1 AB004629;ABBA01008892;ABBA01008893;ABBA01008894;ABBA01040263;ABBA01040264;ABBA01040265;ABBA01040266;ABBA01040267;AK310621;AL118519;AL133388;AL136445;AL160262;AL359539;AMYH02013869;AMYH02013870;AMYH02013871;AMYH02013872;BC070177;BC113362;BC113364;CF144008;CH471051;D38163;D38466;KF495697;KF510956;L12347;M63597;NM_001858;U09279 AAA21146;AAA36358;AAA58468;AAI13363;AAI13365;BAA07368;BAA07488;BAA07489;BAA23309;EAW48828;EAW48829;EAW48830;NP_001849;Q14993 Hs.444842 1334694;1337798;1646053;1675634;1687726;1704176;1722219;1723973;1724661;1751377;1755165;1797424;2118927;2134564;2187300 COL19A1_1952;D6S1718;D6S1844;D6S254;G60014;RH118936;RH121331;RH46622;RH46832;RH46933;RH80759;SHGC-105233;SHGC-12963;SHGC-142087;SHGC-79803 COL9A1L;D6S228E OTTHUMP00000016695;OTTHUMP00000016696;a1 chain of type XIX collagen;collagen XIX, alpha-1 polypeptide;collagen alpha 1 (Y) chain;collagen alpha-1(XIX) chain;collagen alpha-1(Y) chain 1643257 BW136_H APPROVED protein-coding HGNC:2196 00364 120165 REVIEWED 1602872 COL20A1 collagen, type XX, alpha 1 INVOLVED IN extracellular matrix organization (inferred); FOUND IN collagen trimer (inferred); endoplasmic reticulum lumen (inferred); extracellular matrix (inferred); INTERACTS WITH ammonium chloride (ortholog); C60 fullerene (ortholog); choline (ortholog) 20 20 20 q13.33 58602014 58639754 + 61924538 61962285 + 63293186 63330933 + 6480464 10819331;11780052;12477932;15489334;16189514 57642 B7ZBI4;B7ZBI5;Q9P218 AB040943;ABBA01021393;ABBA01021394;AK098702;AL121827;AL390141;AMYH02037453;AMYH02037454;BC013658;BC019637;BC041767;BC043183;CH471077;NM_020882 AAH13658;AAH19637;AAH43183;BAA96034;BAC05387;EAW75285;EAW75286;EAW75287;EAW75288;EAW75289;NP_065933;Q9P218 Hs.271285 1681070;5014053;5093244 D1S3693;G32605;RH67296 KIAA1510;bA261N11.4 OTTHUMP00000031549;OTTHUMP00000070554;collagen alpha-1(XX) chain;collagen-like protein protein-coding ENSG00000101203 HGNC:14670 17215 VALIDATED 1347782 COL21A1 collagen, type XXI, alpha 1 This gene encodes the alpha chain of type XXI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XXI collagen is localized to tissues containing type I collagen so, like other members of this collagen family, it may serve to maintain the integrity of the extracellular matrix. An alternatively spliced transcript variant has been described, but its full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 6 6 6 p12.3-p11.2 57582585 57774549 - 55921388 56112544 - 56056590 56247746 - 1580863;6480464;8554872 11230166;11566190;11827793;11863369;12477932;14702039;15342556;20379614;23817571;24132900 81578 A6PVD9;F5GZK2;H0Y4C9;H0YDH6;Q96P44 ABBA01050498;ABBA01050499;ABBA01050500;ABBA01050501;ABBA01050502;AF330693;AF370383;AF414088;AF438327;AK096444;AK126586;AK313398;AL031782;AL034452;AL136624;AL513530;AMYH02013775;AMYH02013776;BC045597;BC126108;BC143862;BC143863;BC143864;BC143865;BP231679;CH471081;NM_030820;XM_006715223;XM_006715224;XM_006715225;XR_241922;XR_241923 AAH45597;AAI26109;AAI43866;AAL02227;AAL50033;AAL86699;AAQ15219;ACJ66843;BAG36196;BAG53292;CAB66559;EAX04448;EAX04449;EAX04450;EAX04451;EAX04452;NP_110447;Q96P44;XP_006715286;XP_006715287;XP_006715288 Hs.47629 1693544;1725225;1773975;1849030;1852500;1856615;2108733;2121289;2180349;2184608 Bdy88c05;COL21A1_1435;D6S1870;D6S2015;RH118905;RH45942;RH46582;SHGC-53575;SHGC-58459;SHGC-6162 COLA1L;DKFZp564B052;FLJ39125;FLJ44623;FP633;MGC26619;dJ682J15.1;dJ708F5.1 OTTHUMP00000016651;OTTHUMP00000016652;alpha 1 chain-like collagen;alpha 1 type XXI collagen;collagen alpha-1(XXI) chain APPROVED protein-coding ENSG00000124749 HGNC:17025 09884 610002 REVIEWED 1353219 COL23A1 collagen, type XXIII, alpha 1 COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008] 5 5 5 q35.3 173291605 173645012 - 177664617 178017573 - 178237616 178590572 - 1299589;1580863;6480464;8554872 12644459 12477932;15231747;15489334;16728390;17627939;19724895;19851296;20198315;20379614;20447926;21652699;23251661;23568457 91522 Q86Y22 ABBA01009991;ABBA01009992;ABBA01009993;ABBA01009994;ABBA01009995;ABBA01009996;ABBA01009997;ABBA01009998;ABBA01009999;ABBA01010000;ABBA01010001;AC008659;AC022096;AC093290;AC136601;AL137461;AMYH02012862;AMYH02012863;AMYH02012864;AMYH02012865;AMYH02012866;AW014891;AY158895;AY898961;BC042428;CH471165;NM_173465;XM_006714933;XM_006714934;XM_006714935;XM_006714936 AAH42428;AAO18361;AAX84028;CAB70749;EAW53833;EAW53834;NP_775736;Q86Y22;XP_006714996;XP_006714997;XP_006714998;XP_006714999 Hs.660026 1341981;1698518;1713063;1750643;1764457;1764679;1778089;2111932;2129340;2169100;7186127 D5S2030;D5S2511;D5S2690;D5S2708;RH102810;RH120319;SHGC-111954;SHGC-148058;SHGC-148269;SHGC-57110 DKFZp434K0621 OTTHUMP00000161490;collagen alpha-1(XXIII) chain;procollagen, type XXIII, alpha 1 APPROVED protein-coding ENSG00000050767 HGNC:22990 16733 610043 VALIDATED 1603375 COL25A1 collagen, type XXV, alpha 1 This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 4 4 4 q25 107029732 107518680 - 109731877 110223799 - 108810721 109302643 - 6480464;8554872 11927537;12477932;14656069;14702039;15215182;15522881;15615705;15853808;16300410;18501477;19548013;20332099;20379614;21408207;21688384;22297151;23018867 84570 A8MWQ5;D6R8Y2;E9PNV9;H0YAE1;Q9BXS0 ABBA01063771;ABBA01063772;AC004051;AC004701;AC073427;AC095066;AC097473;AF293340;AF293341;AK095098;AMYH02009889;AMYH02009890;AMYH02009891;AMYH02009892;AMYH02009893;AMYH02009894;BC030649;BC036669;CH471057;KF457803;KF457804;NM_001256074;NM_032518;NM_198721;NR_045756 AAH36669;AAK35008;AAK35009;AAY40947;EAX06238;EAX06239;EAX06240;NP_001243003;NP_115907;NP_942014;Q9BXS0 Hs.658842 1339274;1340265;1644510;1647595;1652024;1653546;1668071;1681859;1686300;1695806;1700994;1712869;1753801;1774192;1850857;2109175;2115425;2120694;2130156;2147401;2156452;2162683;2169078;2173048;2175819;2175821;2180497;2181956;7185702 COL25A1_2958;D4S1178;D4S1306;D4S1571;D4S3240;D4S953;G19541;L18131;RH104124;RH120151;RH91312;RH92515;SHGC-23021;SHGC-23025;SHGC-23030;SHGC-23034;SHGC-23036;SHGC-23037;SHGC-23039;SHGC-23040;SHGC-23060;SHGC-23172;SHGC-23220;SHGC-23223;SHGC-37631;SHGC-50465;SHGC-82565;SHGC-89200 AMY;CLAC;CLAC-P;CLACP OTTHUMP00000196081;OTTHUMP00000196082;OTTHUMP00000196083;OTTHUMP00000233698;alzheimer disease amyloid-associated protein;collagen alpha-1(XXV) chain;collagen-like Alzheimer amyloid plaque component;collagenous Alzheimer amyloid plaque component APPROVED protein-coding ENSG00000188517 HGNC:18603 09886 610004 REVIEWED 1319222 COL22A1 collagen, type XXII, alpha 1 COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM, Mar 2008] 8 8 8 q24.3 135769113 136093411 - 139600478 139926236 - 138588235 138913993 - 1580863;6480464;8554872 12477932;15016833;20222955;20379614;23508266;24428702 169044 H0YAX7;Q8NFW1 AA781676;ABBA01012667;ABBA01012668;ABBA01012669;ABBA01013644;ABBA01013645;ABBA01013646;ABBA01013647;AC068476;AC105130;AC115720;AF406780;AMYH02018858;AMYH02018859;AMYH02018860;AMYH02018861;AP006262;BC042075;BC144535;BX094632;CH471060;NM_152888;XM_005250810;XM_006716513 AAH42075;AAI44536;AAI72420;AAN03620;EAW92193;EAW92194;EAW92195;NP_690848;Q8NFW1;XP_005250867;XP_006716576 Hs.117169 1656706;1697628;1698074;1732735;1757977;1758703;1760281;1762479;1765477;1786648;1786656;1786676;1786732;1786786;2146224;2163138 D15S185;D8S1050;D8S346;L18002;RH102326;RH102569;SHGC-132810;SHGC-146301;SHGC-147020;SHGC-148961;SHGC-149203;SHGC-149386;SHGC-149623;SHGC-153336;SHGC-155040;SHGC-155762 OTTHUMP00000196069;collagen alpha-1(XXII) chain;collagen alpha-1(XXII) chain-like APPROVED protein-coding ENSG00000169436 HGNC:22989 09885 610026 VALIDATED 1345849 COL26A1 collagen, type XXVI, alpha 1 This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] 7 7 7 q22.1 96014234 96210348 + 101006101 101202304 + 101362820 101559024 + 1580863;6480464;8554872 12145293;12221002;12477932;16713569;21086123;21948517;22217332;22760553;24324551;9847074 136227 C9JPW4;Q96A83 ABBA01011320;ABBA01011321;ABBA01011322;ABBA01011323;ABBA01011324;ABBA01011325;ABBA01011326;ABBA01011327;ABBA01011328;ABBA01011329;ABBA01011330;ABBA01011331;AC004953;AC004965;AC006329;AJ416091;AMYH02016406;AMYH02016407;AMYH02016408;AMYH02016409;AMYH02016410;BC040052;BC109254;BC110393;BI549609;BM676006;BU845945;CH471197;CX163123;KF573644;NG_033785;NM_001278563;NM_133457 AAI09255;AAI10394;CAC94778;EAW50221;EAW50222;NP_001265492;NP_597714;Q96A83 Hs.654854 1334516;1653176;1733284;1763369;2157548;2157550;2162559;2168929;2173978;7185076;7186978 D2S1301;D7S1682;D7S2085E;D7S2245;D7S2932;D7S662;GDB:1317956;GDB:1318440;SHGC-147091 EMI6;EMID2;EMU2;MGC129848;SH2B;hEmu2 EMI domain containing 2;EMI domain-containing protein 2;OTTHUMP00000196064;OTTHUMP00000196065;alpha-1 type XXVI collagen;collagen alpha-1(XXVI) chain;emilin and multimerin domain-containing protein 2;emilin and multimerin-domain containing protein 2;putative emu2 APPROVED protein-coding ENSG00000160963 HGNC:18038 16405 608927 REVIEWED 1349074 COL24A1 collagen, type XXIV, alpha 1 ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); INVOLVED IN extracellular matrix organization (inferred); hematopoietic progenitor cell differentiation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN collagen trimer (inferred); endoplasmic reticulum lumen (inferred); extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; arsane; arsenic atom 1 1 1 p22.3 84439115 84866628 - 86194916 86622121 - 85729233 86156438 - 6480464;8554872 12477932;12874293;16373341;19913121;20379614;20628086 255631 E9PNK8;F8WDM8;H0YCZ7;Q17RW2 AB209686;ABBA01045623;ABBA01045624;ABBA01045625;ABBA01045626;ABBA01045627;ABBA01045628;ABBA01045629;ABBA01045630;ABBA01045631;ABBA01045632;AC099561;AC104455;AK308953;AL356059;AL359971;AL445427;AMYH02001389;AMYH02001390;AMYH02001391;AMYH02001392;AMYH02001393;AMYH02001394;AMYH02001395;AMYH02001396;AMYH02001397;AMYH02001398;AMYH02001399;AMYH02001400;AMYH02001401;AY244357;BC113654;BC116180;BC117170;BC143715;BC143717;BC143718;CH471097;NM_152890 AAI13655;AAI17171;AAP80185;BAD92923;EAW73193;NP_690850;Q17RW2 Hs.659516 1686704;1726573;1727831;1765161;1768353;1781814;1797426;1846816;2131802;2170561;2179364 AL009422;AL009471;AL010103;COL24A1_2246;D14S120;G62518;G63181;RH92641;SHGC-148676;SHGC-156139;SHGC-75097 MGC142214 OTTHUMP00000012370;collagen alpha-1(XXIV) chain protein-coding ENSG00000171502 HGNC:20821 10846 610025 VALIDATED 1604476 COL28A1 collagen, type XXVIII, alpha 1 COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010] 7 7 7 p21.3 7367965 7545230 - 7398244 7575460 - 7358613 7535829 - 6480464;8554872 12477932;12690205;16330543;19913121;20379614;20628086;20889312;22610502 340267 H7BZU0;H7C3P2;Q2UY09 ABBA01056515;ABBA01056516;ABBA01056517;ABBA01056518;ABBA01056519;AC004982;AC006356;AC009402;AJ890451;AJ890452;AJ890453;AMYH02015188;AMYH02015189;AMYH02015190;AMYH02015191;BC063866;BC136892;BC144431;CH236948;NM_001037763 AAI36893;CAI67595;CAI67596;CAI67597;EAL24305;EAL24307;NP_001032852;Q2UY09 Hs.491104 1342287;1707764;1718449;1742191;1856742;2146679;2159359;2159440;2163197;7186697 D7S1984;D7S2553;GDB:1317600;GDB:1317716;GDB:193196;GDB:3778193;RH122425;RH36519;SHGC-82101 COL28 OTTHUMP00000196066;alpha 2 type VI collagen-like;collagen alpha-1(XXVIII) chain APPROVED protein-coding ENSG00000215018 HGNC:22442 609996 VALIDATED 6481159 COL4A2-AS1 COL4A2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 13 13 111154923 111160526 - 110502576 110508179 - 8554872 100874203 ABBA01026994;ABBA01026995;AL139385;AMYH02028711;BX482237;HG505881;NR_046583 Hs.508716 RP11-90L1.7 APPROVED ncrna ENSG00000232814 HGNC:40156 VALIDATED 5132556 COL4A2-AS2 COL4A2 antisense RNA 2 (non-protein coding) 13 13 q34 91955176 91961617 - 111109000 111115441 - 100129836 AK130129;AL159153;XR_078658;XR_078799 BAC85294;CAM15931 Hs.640035 uncharacterized protein LOC100129836 protein-coding HGNC:39849 1317652 COL4A2 collagen, type IV, alpha 2 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008] 13 13 13 q34 91803804 92011436 + 110959631 111165374 + 110307284 110513027 + 1580863;6480464;6907045;8699517;7240710;8554872 10382266;10416788;10625665;10926178;11259413;11683410;11711546;11867580;12011424;12021518;12180907;12477932;12878203;1377218;15057823;15146197;15231748;15489334;15522229;15743801;16368877;16712791;17216253;1724753;17339318;17554254;17557121;18050191;18706356;19481338;19913121;20067797;20080650;20201926;20452482;20628086;20673868;20805453;20889312;21378990;21527998;21900206;21942715;2211625;22144573;22209246;22209247;22268729;22333902;23818951;24262325;2426947;2439508;2844531;2846280;3025878;3089234;3182844;3198637;3345760;3582677;3692475;3997552;6389236;6811420;6988303;7495302;7500359;7827955;8006028;8317999;8995276;9136074;9334230;9409248;9506531;9673377;9878537 1284 A2A352;P08572 ABBA01026994;ABBA01026995;ABBA01026996;ABBA01026997;ABBA01026998;AF258350;AF400430;AK025912;AK294920;AL139385;AL159153;AL161773;AMYH02028708;AMYH02028709;AMYH02028710;AMYH02028711;AY450357;AY455978;BC016166;BC035559;BC080644;BX648393;BY795218;CB045156;CB148713;CH471085;CK000715;CN397790;CN397808;CN397819;J02760;J04217;M24766;M36963;NG_032137;NM_001846;X05562;X05610;X12784 AAA52043;AAA53097;AAA53099;AAA58422;AAF72631;AAH80644;AAK92479;AAR18250;AAR20245;BAG58004;CAA29076;CAA29098;CAA31275;EAX09111;EAX09112;NP_001837;P08572 Hs.508716 1705132;1762127;1797428;2135357;2154699;2155218;2164201;2167580;2169880;2169882 A005X39;COL4A2_2599;G19261;G20580;RH1614;RH46595;RH78290;SHGC-146027;SHGC-79998;STS-W87433 DKFZp686I14213;FLJ22259;ICH;POREN2 OTTHUMP00000018700;canstatin;collagen alpha-2(IV) chain APPROVED protein-coding ENSG00000134871 HGNC:2203 00355 120090;614483;614519 REVIEWED 1350673 COL27A1 collagen, type XXVII, alpha 1 This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] 9 9 9 q32 87566107 87720603 + 116918231 117072975 + 114155488 114312511 + 6480464;8699517;8554872 11347906;12477932;12714037;12766169;14702039;15922909;18391951;18978678;20379614;20467438;22889924;23192621;24986830 85301 H0YD40;Q5T1U7;Q8IZC6 AB058773;ABBA01042673;ABBA01042674;ABBA01042675;ABBA01042676;ABBA01042677;AI808820;AK021957;AL356796;AL445543;AMYH02021516;AMYH02021517;AY149237;BC007696;BC035728;BU076480;CH471090;NG_034260;NM_032888;XM_006717308;XM_006717309;XM_006717310;XR_428542 AAN41263;BAB13947;BAB47499;EAW87411;EAW87412;EAW87413;EAW87414;NP_116277;Q8IZC6;XP_006717371;XP_006717372;XP_006717373 Hs.494892;Hs.593318 1706426;1757033;1760871;1761695;1761727;1764391;1775088;1779800;1787684;2167346;5022576 D1S1361;SHGC-144392;SHGC-144544;SHGC-145671;SHGC-145701;SHGC-147982;SHGC-153772;SHGC-156158;SHGC-80791;SHGC-8827;WI-22523 FLJ11895;KIAA1870;MGC11337;RP11-82I1.1;STLS OTTHUMP00000021970;collagen alpha-1(XXVII) chain APPROVED protein-coding ENSG00000196739 HGNC:22986 09767 608461;615155 REVIEWED 734037 COL2A1 collagen, type II, alpha 1 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47164396 47195933 - 48366748 48398285 - 47972965 48004554 - 704404;704421;6480464;6484113;6907045;7240710;8554872;8657390;8657355;8657393;8657344;8699517;8657387;8657342;8657384;8661231;8657386;8657389;8657405;8657385;8661658;8661261;8657401;8661226;8661259;729929;8657341;8657343;8657396;8657353;8657345;8657349;8657352;8657340;8657388 10853827;11812423;12204008;12968670;15671297;16546167;16755660;17310101;17653045;18523590;18553548;19216861;19387081;19430638;19764028;20179744;20948465;21204228;22574936;22995397;23592912;23770606;24647564;7487609;8317498;8737653;8863161;9800905 10085302;10196235;10382266;10406661;10486316;10678662;10706362;10729292;10745044;10772239;10797431;10982970;11007540;11121411;11292829;11368302;11406351;11445564;11447232;11705992;11708863;11716775;11724554;11746045;11847210;11973338;12011698;12096843;12186868;12200454;12205109;12223098;12360016;12393877;12429249;12429250;12477932;12485997;12511349;12544472;12637574;12713737;12732631;12847218;12935820;12939326;1374906;1397263;1429602;14299791;1439770;1444917;14644246;14729840;15054848;15082485;15101818;15102076;15179599;15316962;1544908;15466413;15489334;15522781;1556676;15643621;15713743;15731776;15895462;15922184;15930420;16001263;16076844;16088915;16133074;16192646;1621990;16329077;1637314;16395149;16650379;16752401;1677770;16877351;16978902;17009260;17163530;17195216;17217840;17335825;17394019;17437277;17509551;17568421;17580305;17683641;17721977;17994563;18023161;18040638;18065760;18177466;18276201;18288556;18383211;18512791;18636947;18655132;18799084;18978274;19019890;1905723;19180518;19433093;19473573;1971141;19756630;1975693;19790048;19814628;1985108;19913121;1999183;2010058;20131279;20204389;20301479;20529846;20569194;20592578;2059554;20628086;20634891;20672350;2081599;21044884;21088911;21221577;21332586;21442341;21655647;21777803;21843649;21853276;21853455;21924244;21940677;21988832;21993774;22049074;22068351;22189268;22241609;2229073;22319617;22495950;22496037;22689318;22711552;22750747;22791362;22863613;22965811;2300123;23079993;23331625;23370687;2339128;23545312;23546968;2355003;23618358;23631855;23851124;23873758;23882137;23918474;23928235;23932928;24014797;24088220;24164106;24164447;24375478;2446864;2543071;2572591;2587267;2714801;2745554;2753125;2803268;2825137;2987845;3002437;3004202;3011107;3021582;3571333;3800925;3840017;3857598;3997552;6320112;7520045;7550321;7699294;7757081;7757086;7829510;7847372;7874117;7977371;7981752;8019561;8024616;8244341;8325895;8406454;8423604;8486375;8507190;8529631;8609233;8660302;8723096;8723097;8723098;8778019;8863156;8900172;8948452;9061001;9066888;9101290;9334230;9354468;9409248;9468540;9659900;9685393;9711874;9811967 1280 P02458 ABBA01031473;AC004801;AL834148;AMYH02026417;BC007252;BC116449;BT007205;CH471111;CS025620;J00116;JC258754;JC303393;L10347;M23759;M25698;M25728;M25730;M27468;M37126;M60299;M63281;NG_008072;NM_001844;NM_033150;S76829;U15195;X00339;X02371;X02375;X02376;X02377;X02378;X03320;X06268;X13783;X16158;X16468;X16711;X57010;X58709;XM_006719242 AAA51997;AAA52037;AAA52038;AAA52039;AAA52051;AAA58428;AAA73873;AAB60370;AAC41772;AAD14239;AAD15286;AAD15287;AAH07252;AAI16450;AAP35869;CAA25092;CAA26223;CAA26224;CAA26225;CAA26226;CAA26227;CAA27041;CAA29604;CAA32030;CAA34278;CAA34279;CAA34280;CAA34281;CAA34282;CAA34283;CAA34284;CAA34488;CAA34683;CAA40330;CAI46208;CAI61687;CDM55396;CDM55577;EAW57966;EAW57967;EAW57968;EAW57969;EAW57970;NP_001835;NP_149162;P02458;XP_006719305 Hs.408182 1336551;1341346;1644906;1704120;1741089;1741091;1741093;1741295;1741347;1744525;1745633;1791143;2143557;2191499;5015760;5016508;5117542;5117544;5117546;5117548;5117550;5117552;5117554;5117556;5491495 COL2A1;D12S1663;D12S2021;D12S85;GDB:177260;GDB:177726;GDB:177727;GDB:177728;GDB:180356;GDB:180743;GDB:512193;GDB:577655;GDB:577659;GDB:577662;GDB:577664;GDB:577666;GDB:578728;GDB:578731;GDB:578732;GDB:578733;GDB:626695;MARC_15881-15882:1015249633:1;MARC_24087-24088:1040064543:1;RH68551;SHGC-79734 ANFH;AOM;COL11A3;MGC131516;SEDC;STL1 OTTHUMP00000195063;OTTHUMP00000195071;alpha-1 type II collagen;arthroophthalmopathy, progressive (Stickler syndrome);cartilage collagen;chondrocalcin;collagen II, alpha-1 polypeptide;collagen alpha-1(II) chain APPROVED protein-coding ENSG00000139219 HGNC:2200 00361 108300;120140;132450;150600;151210;156550;183900;184250;200610;215150;271700;604864;608805;609162;609508 REVIEWED 737225 COL3A1 collagen, type III, alpha 1 This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] 2 2 2 q31 183433958 183472272 + 189839099 189877472 + 188974373 189012746 + 1300381;1300382;1580863;6480464;6484113;6907045;7240710;7257553;7257554;7257549;7257556;7248773;7257551;8554872;8699517 10706896;16012458;19424605;20150539;20836762;23224993;23313213;2349939 10051163;10819545;10923041;11168790;11311202;11566270;11577371;11827452;11973338;12105202;12140670;12149201;12358155;12477932;12631068;12694234;12786757;12880417;1352273;1357232;1370809;1409674;14633859;1466622;14702039;14736764;1496983;14970208;15101818;15193836;15227656;15342556;15365990;15489334;15514164;15815621;15838180;15894390;15944607;16043429;16088212;16259598;16289162;16356540;16360482;16521042;16681691;1672129;16754721;16838047;16912226;17146610;17396208;17576241;1757960;18089612;18389341;18401458;18521510;18642782;18722615;18805790;18818748;1895316;19000145;19019335;19056482;19152942;19180518;19389097;1939638;19398000;19398442;19444361;19527514;19578796;19639654;19764567;19790048;1979060;19858036;19893454;19913121;19932771;20039537;20063990;20140262;20227120;20301456;20301667;20452482;20628086;20631730;20648054;20673868;20699621;20704113;20720362;21044884;21086191;21145461;21343850;2145268;21558934;21637106;21822266;21858035;21941774;21946467;22001912;22019127;22019950;22238662;22241462;22266860;2235526;22573319;22788708;22836729;22851868;23013106;23040566;23344861;23645670;2365710;23688910;23749290;23788249;24038457;24088220;24286194;24421219;2446864;24503541;24641356;24650746;2492273;2579949;2745554;2764886;2777083;2780304;2808425;2834369;2839553;2981879;3211760;3357782;3405773;3571333;3754462;3858826;557335;6096827;6246925;6295694;687591;7016180;7487954;7546986;7749417;7833919;7912131;8019562;8098182;8255472;8317500;8320698;8411057;8514866;8664902;8680408;8884076;8900172;8990011;9036918;9050868;9076960;9101290;9147870;9284930;9573018;9659899;9659900 1281 E7ENY8;H7C435;P02461 ABBA01062370;ABBA01062371;AC066694;AI755052;AK091853;AK308010;AMYH02005422;AMYH02005423;AY016295;AY054301;BC028178;BP374999;CH471058;GU143397;JC258756;JC303395;M10795;M10797;M10798;M10799;M11134;M13146;M26939;M59227;M59312;NG_007404;NM_000090;S62925;S79877;X01655;X01742;X06700;X07240;X14420;X15332 AAA51999;AAA52000;AAA52001;AAA52002;AAA52003;AAA52004;AAA52040;AAA52041;AAB35615;AAB59383;AAD13937;AAH28178;AAL13167;AAY24164;ACZ58371;CAA25821;CAA25878;CAA25879;CAA29886;CAA30229;CAA32583;CAA33387;CDM55397;CDM55578;EAX10909;EAX10910;EAX10911;NP_000081;P02461 Hs.443625 1680833;1712571;1741135;1741175;1741399;1741479;1788780;1795598;2113912;2183453;2191473;5022008;5106694;5119669;5119677;5122733;5492043 COL3A1;COL3A1-379;COL3A1-95;COL3A1_428;D2S2587;GDB:178182;GDB:178183;GDB:178411;GDB:178412;GDB:180981;GDB:181238;MARC_23660-23661:1029504961:1;RH134399;RH69964;RH99230;WI-16343;X57983 EDS4A;FLJ34534 Ehlers-Danlos syndrome type IV, autosomal dominant;OTTHUMP00000163485;alpha1 (III) collagen;collagen alpha-1(III) chain;collagen, fetal APPROVED protein-coding ENSG00000168542 HGNC:2201 00365 120180;130020;130050 REVIEWED 1319300 COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q13.3 70560104 70701203 - 74666928 74807806 - 75368486 75511981 - 1580863;6480464;8554872 10027952;10212244;11007769;12477932;14685229;14702039;15489334;15596449;15917228;15976441;16189514;16218959;16338941;16571669;16895911;16970251;17081983;17442665;17591919;17916599;18029348;18165232;18184806;18216317;18411267;18772132;19005213;19197348;19447967;19494524;19615732;20036255;20177069;20875392;21285358;21707482;21731489;21832087;21906983;21909260;21988832;22129459;22226883;22396542;22472120;22863883;22869376;24395916;24569996;24816145 10087 H0Y9J1;Q9Y5P4 AB036934;AB036936;ABBA01061944;ABBA01061945;AC008897;AC112183;AC116341;AF136450;AF232930;AF232935;AK000604;AK091851;AK096854;AK292087;AMYH02011585;AMYH02011586;AMYH02011587;AMYH02011588;AMYH02011589;AMYH02011590;AY453385;AY453386;BC000102;CH471084;CQ855842;CQ855844;NG_029492;NM_001130105;NM_005713;NM_031361;XM_006714513 AAD30288;AAG42046;AAG42051;AAH00102;AAR26717;AAR26718;BAB58974;BAB58977;BAC03762;BAF84776;BAG53379;CAH23431;CAH23432;EAW95757;EAW95758;EAW95759;EAW95760;EAW95761;NP_001123577;NP_005704;NP_112729;Q9Y5P4;XP_006714576 Hs.270437 1674091;1690348;2169988 D5S2440;RH80548;SHGC-36269 CERT;CERTL;FLJ20597;GPBP;STARD11;hCERT Goodpasture antigen-binding protein;OTTHUMP00000128247;OTTHUMP00000128248;OTTHUMP00000128249;OTTHUMP00000222113;START domain containing 11;START domain-containing protein 11;StAR-related lipid transfer (START) domain containing 11;ceramide transfer protein;ceramide transporter;collagen type IV alpha-3-binding protein;lipid-transfer protein CERTL;stAR-related lipid transfer protein 11 APPROVED protein-coding ENSG00000113163 HGNC:2205 05246 604677 REVIEWED 1316170 COL4A1 collagen, type IV, alpha 1 This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008] 13 13 13 q34 91645588 91803669 - 110801310 110959496 - 110148963 110307149 - 1581204;1581205;1580863;2311342;2311340;2311341;6480464;6484113;6907045;7240710;8554872;8699517 16374828;16598045;17582205;18077766;19466391 10382266;10416788;10811134;11711546;11776869;11867580;11970952;11994000;12011424;12180907;12477932;12524166;12574156;12812986;12847218;12878203;1377218;14718574;14732718;15057823;15081423;15146197;15203218;15467744;15489334;15583824;15905400;16107487;16151532;16481288;16631378;17216253;1724753;17339318;17696175;17938367;18050191;18061419;18160688;18560403;18669583;18775695;19194877;19422682;19477666;19506372;19840616;19851296;19893454;19913121;19948975;19949034;20031579;20067797;20083228;20166936;20198315;20301768;20379614;20385946;20452482;20506163;20558831;20628086;20673868;20818663;21139048;21157337;21357838;21378990;21500141;21527998;21625620;21794054;2186699;21942715;2211625;22134833;22144573;22209247;22253229;22395516;22522439;22573493;22574627;22784784;22868088;22876576;22919069;22931710;22932948;23065703;23225343;23227231;23251661;23394911;23818951;24156251;24180678;24262325;2426947;2446864;24823860;2506015;2581969;2582422;2701944;2844531;2846280;2891465;2987919;3182844;3311751;3571333;3691802;3714485;3997552;4043082;6386565;6389236;6434307;6811420;6988303;7495302;7500359;7827955;8006028;8317999;8662978;8889548;8900172;8995276;9136074;9169408;9334230;9409248;9506531;9673377;9733643;9878537 1282 F5H5K0;P02462 AB209646;ABBA01026998;ABBA01026999;ABBA01027000;AF258349;AF363672;AF400431;AF536207;AL161773;AL390755;AMYH02028707;AMYH02028708;AY285780;BC047305;BC142626;BC151220;BU677787;CD613007;CH471085;CN256264;DQ464183;EU260121;J04217;KF455822;M10940;M10941;M11315;M26576;M36963;NG_011544;NM_001845;X03963;X05561;X12784;Y00706 AAA52006;AAA52042;AAA53098;AAF72630;AAH47305;AAI42627;AAI51221;AAK53382;AAK92480;AAM97359;AAP43112;ABE73157;ABX47006;BAD92883;CAA29075;CAA31276;CAA68698;EAX09108;EAX09109;NP_001836;P02462 Hs.17441 1657078;1673918;1763643;1771404;1774103;1776994;1795600;1856502;2145122;2166223;2177418;5092732 073WE5;A005V07;COL4A1__1176;D12S2121;D13S1440;D13S1449;D13S148;G32294;SHGC-147331;SHGC-52407;WI-14843;WI-16856 ICH;POREN1 COL4A1 NC1 domain;HANAC;OTTHUMP00000018698;OTTHUMP00000194462;arresten;collagen IV, alpha-1 polypeptide;collagen alpha-1(IV) chain;collagen of basement membrane, alpha-1 chain;collagen type IV alpha 1 APPROVED protein-coding ENSG00000187498 HGNC:2202 00359 120130;175780;607595;611773;614519 REVIEWED 1343126 COL5A1-AS1 COL5A1 antisense RNA 1 q34.3 414316 Q5SY13 AI798815;AL591890;CR748640 Q5SY13 Hs.571561 C9orf104;bA54A22.4 COL5A1 antisense RNA 1 (non-protein coding);chromosome 9 open reading frame 104 APPROVED ncrna HGNC:31368 1313332 COL4A4 collagen, type IV, alpha 4 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008] 2 2 2 q35-q37 221636952 221798798 - 227867427 228029275 - 226968916 227164559 - 1580863;6480464;6484113;6907045;7242047;7240710;7242048;8554872;8699517 19129241;19357112 10382266;10416788;11683410;11711546;11867580;12028435;12180907;12225806;12325029;12477932;12631110;12768082;12878203;1429714;14507670;15280517;15880327;15954103;16235097;16338941;1639407;16895672;16953426;16970251;17216251;1724753;17396119;17942953;18661361;18930919;19109975;19675380;20029656;20237496;20301386;20379614;20452482;20664914;20673868;20972266;2211832;22610502;22723992;2318822;24052634;2426947;3089234;3997552;6389236;6811420;6988303;7495302;7500359;7523402;7827955;7962065;7987396;8006028;8253711;8365481;8787673;8995276;9136074;9195222;9409248;9506531;9537506;9673377;9792860;9878537 1286 J3KNM7;P53420 AA831056;AB008496;ABBA01050186;ABBA01050187;AC073149;AC079235;AF218541;AMYH02005915;AMYH02005916;AMYH02005917;BC065843;BX094848;CH471063;D17391;L01475;L01476;NG_011592;NM_000092;X81053;XM_005246281;XM_005246282;XM_006712246;XM_006712247;XM_006712248;XM_006712249;XM_006712250;XM_006712251;XM_006712252;XR_427065;XR_427066;XR_427067;XR_427068;Y17397 AAY14670;AAY24061;BAA04214;BAA25065;CAA56943;CAA76763;EAW70845;EAW70846;EAW70847;NP_000083;P53420;XP_005246338;XP_005246339;XP_006712309;XP_006712310;XP_006712311;XP_006712312;XP_006712313;XP_006712314;XP_006712315 Hs.591645 1664361;1724565;1726631;2108735;2114550;2168540;2171972 COL4A4_544.2;G62550;RH122542;RH70415;SHGC-33680;WI-18252;WI-7328 CA44 Collagen IV, alpha-4 polypeptide;OTTHUMP00000195046;collagen alpha-4(IV) chain;collagen of basement membrane, alpha-4 chain APPROVED protein-coding ENSG00000081052 HGNC:2206 00360 120131;203780 REVIEWED 1351504 COL4A5 collagen, type IV, alpha 5 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] X X X q22 108154585 108412194 + 107683019 107940775 + 108439771 108697545 + 1600687;1580863;6480464;6484113;6907045;7240710;8554872;8699517 2349482 10094548;10382266;10416788;10561141;10563487;10684360;10862091;11004279;11051113;11198602;11223851;11462238;11683410;11711546;11961405;12021518;12105244;12180907;12218303;12477932;12478350;12732331;12796257;12878203;1352287;1363780;1376965;1377218;14514738;14531812;14592452;14993485;15149316;15211113;15365990;15583824;15780079;15954103;16169070;16284948;16344560;16507901;16613845;1672282;1689491;16940319;16941480;1724753;17277342;17294221;17396119;17554254;18083113;18616531;18706356;18930919;19065523;19281745;19322201;19610672;19728970;19913121;19919694;19965530;2004755;20301386;20378821;20452482;20574986;20628086;20673868;20881942;20951201;21143337;21187648;21332469;21380622;21848006;21900206;21942715;22335431;22919268;23085274;2339699;2380186;24043717;2426947;24337245;3997552;6386565;6389236;6811420;6988303;7495302;7500359;7599631;7853788;8006028;8081393;8120014;8301933;8356449;8406498;8651292;8651296;8829632;8889548;8940267;9136074;9150741;9195222;9452056;9506531;9673377;9878537 1287 A7MBN3;H0Y998;H0Y9H0;H0Y9R8;P29400;Q49AM6 ABBA01036008;ABBA01036009;ABBA01036010;ABBA01036011;ABBA01036012;ABBA01036013;ABBA01036014;ABBA01036015;ABBA01036016;ABBA01036017;ABBA01036018;ABBA01036019;ABBA01036020;ABBA01036021;ABBA01036022;ABBA01036023;ABBA01036024;ABBA01036025;ABBA01036026;ABBA01036027;ABBA01036028;ABBA01036029;ABBA01036030;ABBA01036031;ABBA01036032;ABBA01036033;ABBA01036034;ABBA01036035;ABBA01036036;ABBA01036037;ABBA01036038;ABBA01036039;ABBA01036040;ABBA01036041;ABBA01036042;AF199451;AF199452;AK294066;AK307900;AL031622;AL034369;AL035425;AL136364;AMYH02040221;BC035387;BC151846;BU688037;BX641049;CH471120;DA461056;KF459303;M31115;M58526;M63473;M90464;NG_011977;NM_000495;NM_033380;S59334;S69168;S71779;S75903;U04470;U04520;XM_005262070;XM_005262072;XM_006724616;Z37153 AAA51558;AAA52045;AAA52046;AAA99480;AAB31853;AAB33374;AAC27816;AAC60612;AAD13909;AAF66217;AAH35387;AAI51847;BAG57411;CAA85512;EAX02683;EAX02684;EAX02685;EAX02686;NP_000486;NP_203699;P29400;XP_005262127;XP_005262129;XP_006724679 Hs.369089 1701692;1701876;1701882;1701910;1702114;1702364;1702448;1702668;1742383;1744227;1791037;1791039;1791043;1791045;1791047;1795602;2137655;2138610;2143981;2145335;2175925;2178252 AF020129;BKT38;BKT39;BKT40;BKT41;BKT42;COL4A5;COL4A5_1596;COL4A6;DXS137;DXS6802;DXS7815;DXS7886;DXS7887;G10713;GDB:192502;GDB:196581;GDB:438123;GDB:600958;RH45245;SHGC-36895;WI-7137 ASLN;ATS;CA54;DKFZp686G1497;MGC167109;MGC42377 OTTHUMP00000023838;OTTHUMP00000217926;OTTHUMP00000217927;collagen IV, alpha-5 polypeptide;collagen alpha-5(IV) chain;collagen of basement membrane, alpha-5 chain;dA149D17.3;dA24A23.1 APPROVED protein-coding ENSG00000188153 HGNC:2207 02363 301050;303630 REVIEWED 1343037 COL4A6 collagen, type IV, alpha 6 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] X X X q22 107870304 108154135 - 107398837 107682704 - 108155607 108439497 - 1580863;6480464;6484113;6907045;7240710;8699517;8554872 10382266;10416788;10737800;11711546;12107410;12180907;12477932;12878203;1377218;14592452;15146197;15211113;15679046;15772651;16344560;16507901;1724753;17955302;18074349;18474427;18782525;19422682;19913121;20359090;20452482;20628086;20673868;20951201;21380622;21832049;21942715;23621580;2426947;3997552;6386565;6389236;6811420;6988303;7500359;7592929;7972123;8006028;8125972;8175748;8356449;8661006;9136074;9506531;9673377;9878537 1288 A8MXH5;A8VPY0;B2RTX6;B4DZ39;B7ZMM7;F5H3Q5;F5H851;Q14031;Q9BS57 ABBA01035980;ABBA01035981;ABBA01035982;ABBA01035983;ABBA01035984;ABBA01035985;ABBA01035986;ABBA01035987;ABBA01035988;ABBA01035989;ABBA01035990;ABBA01035991;ABBA01035992;ABBA01035993;ABBA01035994;ABBA01035995;ABBA01035996;ABBA01035997;ABBA01035998;ABBA01035999;ABBA01036000;ABBA01036001;ABBA01036002;ABBA01036003;ABBA01036004;ABBA01036005;ABBA01036006;ABBA01036007;ABBA01036008;AK300502;AL031177;AL034369;AL109943;AL136080;AMYH02040220;AMYH02040221;AW082083;BC000874;BC005305;BC070203;BC140855;BC144669;BF726518;BG680578;BQ331638;BT007228;CA396616;CA489342;CB050016;CH471120;CN313332;CN313341;CN313343;CN313347;CN313351;CX872164;D21337;D28116;D63562;DA748513;DB260304;EU182215;L22763;NG_012059;NM_001287758;NM_001287759;NM_001287760;NM_001847;NM_033641;U04845;U47004;XM_006724617;XM_006724618 AAA16338;AAA19569;AAB19038;AAB19039;AAH05305;AAH70203;AAI40856;AAI44670;AAP35892;ABW24668;BAA04809;BAA09791;BAG62216;EAX02687;EAX02688;NP_001274687;NP_001274688;NP_001274689;NP_001838;NP_378667;Q14031;XP_006724680;XP_006724681 Hs.145586 1339721;1649966;1659614;1663383;1694108;1701846;1701882;1702632;1702646;1702668;1702764;1702802;1702922;1703000;1745807;1745809;1772111;1791041;1795604;2129228;7184808 AL022444;AL035141;BKT4;COL4A6;COL4A6_546;DXS571;DXS6797;DXS7494;DXS7789;DXS7820;DXS7883;DXS7884;DXS7885;DXS8216;DXS8343;GDB:600958;GDB:642198;GDB:642212;UniSTS:99664;WI-18796 CXDELq22.3;DELXq22.3;DFNX6;MGC88184 OTTHUMP00000023834;OTTHUMP00000023835;collagen IV, alpha-6 polypeptide;collagen alpha 6 type IV;collagen alpha-6(IV) chain;collagen of basement membrane, alpha-6;dJ889N15.4 (Collagen Alpha 6(IV)) APPROVED protein-coding ENSG00000197565 HGNC:2208 02364 300914;303631 REVIEWED 736080 COL5A3 collagen, type V, alpha 3 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9965704 10016619 - 10070237 10121147 - 9959561 10010471 - 6480464;6907045;8554872 10722718;11423559;15136578;15316020;1571108;19012342;1916105;6501291;7115902;7346227;8535602;9443080 50509 P25940;Q59GD4 AB209175;ABBA01029956;ABBA01029957;AC008742;AF177941;AMYH02035481;AMYH02035482;BQ006883;CH471106;JC258762;JC303401;NM_015719 AAF59902;BAD92412;CDM55400;CDM55581;EAW84061;NP_056534;P25940 Hs.235368 1747795;1761601;1795608;2170581 COL5A3_310;G66875;SHGC-145596;STS-W80440 OTTHUMP00000195993;collagen alpha-3(V) chain;pro-(alpha)3(V) collagen APPROVED protein-coding ENSG00000080573 HGNC:14864 00369 120216 REVIEWED 736518 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010] 2 2 2 q36-q37 221798804 221948638 + 228029281 228179508 + 227164565 227314792 + 1600924;1600928;1580863;6480464;6484113;7240710;7242047;8554872;8699517 11158397;19357112;7987301 10212244;10382266;10416788;10766752;10837460;11134255;11337467;11683410;11711546;11867580;11961012;12028435;12107413;12180907;12193605;12225806;12682293;12768082;12878203;1377218;1400291;14507670;14633133;14676276;14871398;15199166;15280517;15492988;15815621;15880327;15954103;16235097;16877525;16895672;16940319;16953426;17216251;1724753;17294221;17339318;17370265;1737849;17396119;17426256;17726307;17942953;18385178;18436078;18439107;18499662;18661361;18772132;1882840;18930919;18941198;19688274;19786737;20029656;20177710;20201926;20237496;20301386;20452482;20664914;20673868;21143337;21854504;21942715;22082156;22118674;22461538;22473740;22939955;23085731;23108892;23291589;23297803;23319000;23371956;23515049;23620401;24052634;24262798;2426947;3025878;3089234;3997552;6389236;6811420;6988303;7495302;7500359;7758473;7827955;7987396;8006028;8006044;8016138;8083201;8294492;8505332;8889548;8995276;9136074;9278443;9409248;9506531;9537506;9673377;9878537 1285 H7BXM4;Q01955 AB008496;ABBA01050185;ABBA01050186;AC079235;AC097662;AC107069;AF218541;AF258351;AJ288487;AJ288534;AJ288535;AJ288536;AJ288537;AJ288538;AMYH02005917;AMYH02005918;AMYH02005919;AU099354;BM670570;BM712932;CD675393;CH471063;EU268882;L08650;M81379;M92993;NG_011591;NM_000091;S55790;U02519;U02520;X80031;XM_005246275;XM_005246276;XM_005246277;XM_005246279;XM_005246280;XM_006712244;XM_006712245;XR_241280 AAA18942;AAA18943;AAA21610;AAA51556;AAA52044;AAB19637;AAF63713;AAF72632;AAI56139;AAX93111;AAY14671;AAY24251;ABX71213;BAA25064;CAA56335;CAC36101;EAW70848;EAW70849;EAW70850;EAW70851;EAW70852;EAW70853;EAW70854;EAW70855;EAW70856;EAW70857;NP_000082;Q01955;XP_005246332;XP_005246333;XP_005246334;XP_005246336;XP_005246337;XP_006712307;XP_006712308 Hs.570065 1336351;1651189;1684652;1784146;1852851;1857065;2145124;5022143;5120343;5493925 COL4A3;D2S2158;D2S2555;G10620;G18012;GDB:304589;RH79227;RH92131;SHGC-154740;SHGC-9488 OTTHUMP00000203997;collagen IV, alpha-3 polypeptide;collagen alpha-3(IV) chain;tumstatin APPROVED protein-coding ENSG00000169031 HGNC:2204 00354 104200;120070;141200;203780 REVIEWED 736788 COL5A2 collagen, type V, alpha 2 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008] 2 2 2 q14-q32 183491426 183639662 - 189896641 190044668 - 189031915 189179879 - 734809;1600694;1580863;6480464;6484113;6907045;7240710;8699517;8554872 16431952;9425231 10777716;11566270;11741999;11940702;12145749;12477932;14557872;15136578;15489334;1571108;15815621;17666000;1820205;18818748;19019335;19180518;19527514;19913121;20140262;20301422;20379614;20452482;20625483;20628086;20648054;20673868;20847697;22132895;22208904;22696272;23574622;23587214;2411731;2584236;2914927;2985598;3029669;3224983;3858826;8181482;8660106;9550630;9659900;9783710 1290 P05997 AB209045;ABBA01062373;ABBA01062374;ABBA01062375;ABBA01062376;ABBA01062377;AC064833;AC133106;AK297936;AK300146;AL552427;AMYH02005423;AMYH02005424;AMYH02005425;AY016288;AY016295;BC015705;BC043613;BC086874;CH471058;J03051;J04478;JC258760;JC303399;M10956;M11135;M11718;M31365;M58529;NG_011799;NM_000393;X04758;Y14690 AAA51857;AAA51858;AAA51859;AAA52007;AAA52058;AAC41699;AAH43613;AAH86874;AAL13165;AAL13166;AAY24185;BAD92282;BAG60252;BAG61932;CAA28454;CAA75002;CDM55399;CDM55580;EAX10906;EAX10907;EAX10908;NP_000384;P05997 Hs.445827 1649384;1651279;1670810;1690820;1717631;1741481;1768036;1773493;1784180;1795606;2120316 COL5A2_1241;D2S2062;D2S2590;GDB:181239;RH122120;RH66811;RH67772;RH81066;SHGC-155221;SHGC-36511;WI-19973 MGC105115 AB collagen;OTTHUMP00000194772;collagen alpha-2(V) chain;collagen, fetal membrane, A polypeptide;type V preprocollagen alpha 2 chain APPROVED protein-coding ENSG00000204262 HGNC:2210 00366 120190;130000 REVIEWED 2311268 COL6A4P1 collagen, type VI, alpha 4 pseudogene 1 This transcribed pseudogene represents the 5' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). No complete ORF of comparable size to the mouse protein is found in this gene. The predicted protein lacks a signal peptide; however, this truncated collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq, Jun 2009] 3 3 3 p25.1 15145131 15185728 - 15206869 15247466 - 15165362 15205959 - 12477932;18276594;18400749;18622395;19054821;19181678;19486942;19507504;20238217;20848793;20939878;21057832 344875 AB299979;ABBA01025144;AC087590;AC090954;AMYH02006329;FN394065;NR_027927 BAF94136;CAY86115 Hs.722756 1772298 D3S3100 COL6A4;COL6A4P;DIVA;DVWA;VWA6 APPROVED pseudo ENSG00000230524 HGNC:33484 612397 PROVISIONAL 733435 COL5A1 collagen, type V, alpha 1 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 9 9 9 q34.2-q34.3 108048806 108251522 + 137533651 137736689 + 134641805 134844843 + 1581210;1581211;1581212;734808;1580863;6480464;6484113;6907045;7240710;8554872;8699517 10777716;11278977;12145749;8752669 10602121;10722718;10796876;11741999;11751872;12477932;12847218;14504037;14702039;14970208;15095409;15136578;15146197;15164053;1571108;1572660;16430677;16431952;16712791;1722213;17407447;17965778;18305566;18353721;18443036;18487259;18818748;18854154;18972565;19019335;19042922;19180518;1937076;19422640;19426620;19527514;19632402;19654427;19696512;19913121;19956930;20140262;20301422;20359947;20452482;20456365;20543949;20625483;20628086;20635400;20673868;2071595;20719862;20798666;20834067;20847697;20979576;21098505;21139048;21215393;21328072;21362053;21467034;21541907;21609763;21611149;21697718;21906983;21934170;2203476;22132895;22149965;22208904;22437311;22586326;22696272;22762739;22814818;23060441;23291589;23347277;23493294;23513063;23517059;23587214;23624467;23665963;24085259;2446864;24503541;2496661;2745554;3571333;6501291;6693501;7346227;7646438;8181482;8440685;8575750;8900172;9042913;9099729;9501082;9582436;9683580;9840442 1289 B2ZZ86;H7BY82;P20908;Q59EE7 AB209864;AB371583;ABBA01030006;ABBA01030007;ABBA01030008;ABBA01030009;ABBA01030010;ABBA01030011;ABBA01030012;ABBA01030013;ABBA01030014;ABBA01030015;AI190929;AK057231;AK122763;AK127662;AL591890;AL603650;AL645768;AMYH02021856;AMYH02021857;AMYH02021858;BC008760;BC032405;BM051019;CA446007;CB152831;CH471090;CN399198;CN399221;CN399265;CN484933;D90279;ES314363;JC258758;JC303397;L38808;NG_008030;NM_000093;NM_001278074 AAA79853;AAH08760;BAA14323;BAD93101;BAG48312;CDM55398;CDM55579;EAW88128;EAW88129;EAW88130;EAW88131;EAW88132;NP_000084;NP_001265003;P20908 Hs.210283 1673645;1677945;1687301;1689562;1697034;1758291;1760535;1767514;1854672;2219060;5014023;5037552;5094258 COL5A1_2419;D13S1553;D8S2279;G54670;RH101994;RH45344;RH70027;RH70759;RH75751;RH76754;RH93484;SHGC-143900;SHGC-147947 OTTHUMP00000022513;alpha 1 type V collagen;collagen alpha-1(V) chain APPROVED protein-coding ENSG00000130635 HGNC:2209 00368 120215;130000;130010 REVIEWED 1352880 COL6A1 collagen, type VI, alpha 1 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 32514265 32537566 + 47401663 47424963 + 45981749 46005049 + 1600934;1580863;6480464;6484113;6907045;7240710;8554872;8699517 8782832 10407855;10830953;11337467;11865138;11932968;11973338;12011280;12374585;12477932;12736748;12840783;12958705;14981181;15146197;1544908;15489334;15563506;16130093;16141002;16210410;16227896;16434404;17170699;17334655;17537636;17602442;1765372;17897319;18246005;18366090;18378883;18400749;18551403;18634150;18825676;19056867;19204726;19309692;20301468;20301676;20721706;20976770;21037586;21139048;21900206;21906983;21942715;22012643;22268729;22583932;23013106;23221806;24271325;24357721;24443028;2446864;2551668;3198591;3348212;3665927;6852033;8168508;8536701;8618682;8889548;8900172;9107679;9334230;9501082;9580662 1291 P12109;Q05BT9 ABBA01074220;AJ011932;AK298968;AK299396;AK307989;AMYH02037945;AP001479;AU100220;BC005159;BC022236;BC032821;BC052575;BI769554;BM686857;BM707144;CH471079;CN369002;CN369026;CN369041;M20776;M27447;NG_008674;NM_001848;S75420;X06194;X15879;X15880;X92430;X99109;X99135;XM_006723964 AAA52055;AAB20835;AAH05159;AAH22236;AAH32821;AAH52575;BAG61063;BAG61380;CAA29555;CAA33888;CAA33889;CAA67559;CAA67576;EAX09320;EAX09321;EAX09322;NP_001839;P12109;XP_006724027 Hs.474053 1684172;1790621;2217178 COL6A1_3124;RH75955;STS_CEB250 OPLL OTTHUMP00000115501;alpha 1 (VI) chain (61 AA);collagen VI, alpha-1 polypeptide;collagen alpha-1(VI) chain APPROVED protein-coding ENSG00000142156 HGNC:2211 00370 120220;158810;254090;602475 REVIEWED 3051197 COL6A4P2 collagen, type VI, alpha 4 pseudogene 2 This transcribed pseudogene represents the 3' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). The predicted ORF contains multiple premature stop codons. A large chromosome break separates this pseudogene from the 5' end of the presumed ortholog (DVWA, GeneID 344875) which is located upstream at chromosome 3p24.3. [provided by RefSeq, Jun 2009] 3 3 3 q22.1 128360006 128420288 + 129931663 129992649 + 130212820 130273806 + 15146197;18400749;19486942;22952603 646300 ABBA01059204;ABBA01059205;ABBA01059206;ABBA01059207;AC093004;AC112646;AC130888;AMYH02007655;AMYH02007656;BF593933;CN285077;DR731426;DV080502;EG328528;KF459857;NR_027898 Hs.170475 1679932;1708164;1756531;1784888;5023075 RH92350;SHGC-143562;SHGC-70163;SHGC-79329;ha2998 COL6A4 APPROVED pseudo HGNC:38501 PROVISIONAL 1313701 COL6A2 collagen, type VI, alpha 2 This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 32629797 32665343 + 47518033 47552763 + 46098119 46132849 + 1600934;1600938;1580863;6480464;6484113;6907045;7240710;8554872;8699517 7791542;8782832 10830953;11381124;11865138;12011280;12176987;12218063;12297580;12374585;12477932;12812986;12840783;14981181;15146197;1544908;15489334;1556127;15563506;1602151;16075202;16141002;1690728;17602442;1765372;18029348;18366090;18400749;18852439;19199708;19204726;19309692;19698785;20106987;20301468;20301676;20302629;21906983;21988832;23000965;23138527;23452080;24443028;2551668;3198591;3348212;3665927;6852033;8168508;8305732;9099729;9334230 1292 C9JH44;H7C0M5;P12110 ABBA01021750;ABBA01021751;ABBA01021752;AF218010;AI275476;AK128695;AL044156;AL096746;AL360197;AMYH02037945;AP001101;AP001467;AP001471;AY029208;BC002484;BC065509;BM989656;BT006913;CH471079;CN352095;CN352155;CR536573;M34570;M34571;M34572;M34573;M81834;M81835;M81836;NG_008675;NM_001849;NM_058174;NM_058175;S75462;X06195;X15977 AAA35618;AAA35619;AAA35620;AAA35621;AAA52056;AAB20836;AAG17252;AAH02484;AAH65509;AAP35559;ACE86777;ACE87463;CAA29556;CAA34099;CAB46421;CAG38810;EAX09316;EAX09317;EAX09318;NP_001840;NP_478054;NP_478055;P12110 Hs.420269 1686148;1741761;1742133;1794700;1794702;1794704;2106461 COL6A2_4061;GDB:185152;GDB:192315;PMC34700P1;PMC34700P2;PMC34700P3;RH80325 DKFZp586E1322;FLJ46862;PP3610 OTTHUMP00000115568;OTTHUMP00000115569;OTTHUMP00000115570;collagen VI, alpha-2 polypeptide;collagen alpha-2(VI) chain;human mRNA for collagen VI alpha-2 C-terminal globular domain APPROVED protein-coding ENSG00000142173 HGNC:2212 02110 120240;158810;254090;255600 REVIEWED 1319668 COL8A1 collagen, type VIII, alpha 1 This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011] 3 3 3 q12.3 97746575 97904287 + 99357440 99518061 + 99638596 99796733 + 1580863;6480464;6484113;8554872 10666376;10731515;10823842;11689488;12107410;12477932;12482545;12782141;15489334;16189514;16344560;16713569;16936088;17721297;19060904;19913121;2029894;20379614;20385826;20628086;21139683;23455636;23512105;23533600;24144296;9438378;9705353 1295 C9JTN9;P27658 ABBA01061802;ABBA01061803;AC055723;AC069222;AF170702;AK311449;AL359062;AMYH02007295;AMYH02007296;AY550974;BC013581;BG938623;BQ774361;BT009917;CA393523;CB269463;CH471052;CN484310;DA663372;NM_001850;NM_020351;X57527 AAF89665;AAH13581;AAP88919;AAT52220;ABM84799;CAA40748;EAW79837;EAW79838;EAW79839;EAW79840;NP_001841;NP_065084;P27658 Hs.654548;Hs.740613;Hs.740617 1651545;1712949;1717589;1797432;1847252;1851807 COL8A1_2507;D3S3071;D3S4108;RH120564;RH122099;SHGC-2730 C3orf7;MGC9568 OTTHUMP00000192896;OTTHUMP00000192897;cell proliferation-inducing protein 41;collagen VIII, alpha-1 polypeptide;collagen alpha-1(VIII) chain;endothelial collagen;smag-64;smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64 APPROVED protein-coding ENSG00000144810 HGNC:2215 00372 120251 REVIEWED 1601707 COL6A5 collagen, type VI, alpha 5 This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 3 3 3 q22.1 128491730 128631031 + 130064359 130203690 + 130345516 130484846 + 6480464;8554872 14702039;17850181;18276594;18400749;18839421;19478074;19961619;20379614;20649719;20882040;21353297;22118674;22226732;24348519 256076 A8TX70;E9PAL5;H0Y393;H0Y935;H0Y9T2 ABBA01059203;ABBA01059204;AC093004;AC117398;AI743837;AK093199;AK123718;AM906078;AM906079;AM906080;AM906081;AM906082;AM906083;AM906084;AMYH02007657;CH471052;EU085556;KF457678;KF457681;KF573676;NG_021424;NM_001278298;NM_153264;NR_022012 A8TX70;ABW81241;BAC04092;BAC85681;CAP19997;CAP19998;CAP19999;CAP20000;CAP20001;CAP20002;CAP20003;EAW79224;NP_001265227;NP_694996 Hs.205403 COL29A1;FLJ35880;VWA4 OTTHUMP00000216291;collagen alpha-5(VI) chain;collagen, type XXIX, alpha 1;von Willebrand factor A domain-containing protein 4 APPROVED protein-coding ENSG00000172752 HGNC:26674 08196 611916 REVIEWED 1318630 COL6A3 collagen, type VI, alpha 3 This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009] 2 2 2 q37 231946425 232036576 - 238232655 238322850 - 237324012 237414207 - 1600940;1580863;6480464;6484113;6907045;7240710;8554872;8699517 9536084 11785962;11992252;12011280;12077460;12477932;1339440;14702039;15146197;15563506;15965965;16141002;16335952;16613849;1689238;17918257;18366090;18400749;19056867;19401702;19834535;19837927;19851296;20198315;20301468;20301676;20379614;21782286;23818951;24443028;3198591;3348212;3665927;7533217;8387021;8782832;8805527;8862926;8889548;9265624;9516440 1293 B7ZW00;C9JNG9;D9ZGF2;E7ENL6;I3L392;P12111;Q63HQ4;Q8N4Z1 AB209636;ABBA01042583;ABBA01042584;AC112715;AC112721;AK092021;AK303290;AK304870;AK308451;AL698472;AL706147;AL710464;AMYH02006061;AMYH02006062;AMYH02006063;BC033174;BC144595;BC150625;BC171790;BQ446249;BU687672;BX641155;BX647361;BX647500;CH471063;CN281809;DC411101;HM015590;M20778;M27449;NG_008676;NM_004369;NM_057164;NM_057165;NM_057166;NM_057167;S49432;X06196;X52022;XM_005246065;XM_005246066;XM_006712253 AAA52057;AAB24261;AAH33174;AAI44596;AAI50626;AAI71790;AAI72233;AAY14906;AAY24135;ADL14511;BAD92873;BAG52467;BAG64366;BAG65607;CAA29557;CAA36267;CAE46068;CAH56139;EAW71103;EAW71104;EAW71105;EAW71106;EAW71107;EAW71108;EAW71109;EAW71110;NP_004360;NP_476505;NP_476506;NP_476507;NP_476508;P12111;XP_005246122;XP_005246123;XP_006712316 Hs.233240 1650556;1797430;2183770;5015861;5017227;5019070;7185938 COL6A3_1840;D10S16;G38154;G44334;RH18099;WI-19458 DKFZp686D23123;DKFZp686K04147;DKFZp686N0262;FLJ34702;FLJ98399 OTTHUMP00000195994;OTTHUMP00000195995;OTTHUMP00000195996;OTTHUMP00000202895;OTTHUMP00000213923;collagen VI, alpha-3 polypeptide;collagen alpha-3(VI) chain APPROVED protein-coding ENSG00000163359 HGNC:2213 00371 120250;158810;254090 REVIEWED 1313058 COL8A2 collagen, type VIII, alpha 2 This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 1 1 1 p34.2 34835260 34840268 - 36560840 36591305 - 36095239 36125704 - 1580863;6480464;6484113;7240710;8554872;8699517 10686422;11689488;12477932;12782141;14702039;14990571;15015022;15175909;15851557;15914606;16303941;16908762;16936088;17471329;17721297;18024822;18464802;18502986;20144242;2019595;2029894;21139683;22020132;22814818;23110055;23291589;23601356;23608731;24348007;9438378;9705353 1296 E9PP49;P25067 ABBA01023316;ABBA01023317;AI084614;AK074129;AK090924;AL138787;AMYH02000776;BC096295;BC096296;BC096297;BC099645;CH471059;HY025990;KC130914;KC130915;KC130917;M60832;NG_016245;NM_001294347;NM_005202;XM_005270477;XM_005270478;XM_005270479 AAA62822;AAH96295;AAH96296;AAH96297;AAH99645;AGN55426;AGN55427;AGN55429;BAB84955;EAX07388;NP_001281276;NP_005193;P25067;XP_005270534;XP_005270535;XP_005270536 Hs.353001 1795610 COL8A2_1661 FECD;FECD1;FLJ00201;MGC116970;MGC116972;PPCD;PPCD2 OTTHUMP00000009029;OTTHUMP00000194904;collagen VIII, alpha-2 polypeptide;collagen alpha-2(VIII) chain;collagen type VIII alpha 2;dJ665N4.1 (collagen type VIII alpha 2);endothelial collagen APPROVED protein-coding ENSG00000171812 HGNC:2216 08347 120252;136800;609140 REVIEWED 3052729 COL6A6 collagen, type VI, alpha 6 INVOLVED IN cell adhesion (inferred); collagen catabolic process (inferred); extracellular matrix disassembly (inferred); PARTICIPATES IN cell-extracellular matrix signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular matrix; INTERACTS WITH all-trans-retinoic acid; valproic acid; 2,2,2-tetramine (ortholog) 3 3 3 q22.1 128706262 128821161 + 130236198 130395890 + 130517356 130677046 + 6907045;6480464;8554872 16641997;18276594;18400749;20882040;21406227;22226732;24907562 131873 A6NMZ7;H0Y940;H0YA33 ABBA01059200;ABBA01059201;ABBA01059202;ABBA01059203;AC093006;AC117398;AC128683;AL713792;AM774225;AM774226;AM774227;AMYH02007657;AMYH02007658;AMYH02007659;AMYH02007660;AMYH02007661;NM_001102608;XM_005247121 A6NMZ7;CAH10639;CAO81739;CAO81740;CAO81741;NP_001096078;XP_005247178 Hs.591282 1704164;2114928 SHGC-79789;STS-N22964 OTTHUMP00000216111;collagen alpha-6(VI) chain protein-coding ENSG00000206384 HGNC:27023 PROVISIONAL 1602159 COLCA1 colorectal cancer associated 1 FOUND IN membrane; INTERACTS WITH (+)-catechin; 3-methylcholanthrene; all-trans-retinoic acid 11 11 11 q23.1 108317301 108323726 - 111164114 111177104 - 111293389 111299814 - 6480464 18372901;18753146;19843678;20501757;20530476;20638935;20648012;21761138;23266556;24146276;24154973;24760461 399948 Q6ZS62 AB096245;ABBA01039823;AK127703;AMYH02025570;AP002448;CR936778;NG_027686;NR_034154 Q6ZS62 Hs.729225 1661431;1858167;5022578 D1S1423;RH46428;SGC44508 C11orf92;CASC12;DKFZp781P19126;FLJ45803 hypothetical protein LOC399948 APPROVED ncrna ENSG00000196167 HGNC:33789 13513 615693 VALIDATED 1298223 COL9A1 collagen, type IX, alpha 1 This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q13 71314154 71401187 - 70925743 71012786 - 70216040 70303083 - 738111;1600949;1580863;6480464;6484113;7240710;8699517;8554872 10788539;11565064 11308397;11724554;12107410;12399468;12477932;1429648;14574404;14702039;15047691;15489334;15523498;15694129;15802199;15880806;15922184;16344560;16718610;1690886;16909383;17548304;17553797;17881354;19180518;19913121;20301302;20301479;20358595;20379614;20507993;20628086;21421862;21672422;21768108;2209617;23132862;2446864;2465149;3294062;3473493;3542919;7829101;8244386;8660302;9707347 1297 B3KWS8;P20849 ABBA01040267;AF036110;AF036111;AF036112;AF036113;AF036114;AF036115;AF036116;AF036117;AF036118;AF036119;AF036120;AF036121;AF036122;AF036123;AF036124;AF036125;AF036126;AF036127;AF036128;AF036129;AF036130;AK097582;AK125738;AL080275;AL160262;AMYH02013872;AU118474;AW021120;AW022764;BC008620;BC015409;BC063646;BF196880;BI494750;BI495179;CA392556;CH471051;M32133;M32135;M32137;M34534;NG_011654;NM_001851;NM_078485;X54412;X54413;XM_006715331 AAA53474;AAA53475;AAC33527;AAC33528;AAF67394;AAH15409;AAH63646;BAG54240;CAA38276;CAA38277;EAW48822;EAW48823;EAW48824;EAW48825;EAW48826;EAW48827;NP_001842;NP_511040;P20849;XP_006715394 Hs.590892 1336248;1340900;1663979;1743015;1857821;2124615;5015861;5015881;5020948;7185938 D10S16;D6S1557;D6S313;G35510;GDB:249306;GDB:335751;RH46227;SHGC-852;STS-X54412 DJ149L1.1.2;EDM6;FLJ40263;MED;STL4 OTTHUMP00000016698;OTTHUMP00000016699;alpha-1(IX) collagen chain;cartilage-specific short collagen;collagen IX, alpha-1 polypeptide;collagen alpha-1(IX) chain APPROVED protein-coding ENSG00000112280 HGNC:2217 00367 120210;614134;614135 REVIEWED 1321049 COL9A3 collagen, type IX, alpha 3 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] 20 20 20 q13.3 58124036 58148542 + 61448414 61472511 + 62817062 62841159 + 1600695;1580863;6480464;6484113;7240710;8699517;8554872 10090888 10428822;10655510;10678658;11308397;11565064;11724554;11780052;12096843;12461395;12477932;12601188;12782139;1429648;15167667;15489334;15523498;15917166;15922184;16133074;16586133;17471097;17701042;18469698;19180518;20029029;20301302;20301479;20358595;21042783;21311409;23132862;2446864;24636772;3473493;3542919;8586434;8660302;9164858 1299 Q14050;Q4VXW1 ABBA01021372;ABBA01021373;AF026801;AF026802;AK075240;AL035669;AMYH02037440;AMYH02037441;BC004412;BC007574;BC011705;CH471077;L41162;NG_016353;NM_001853;X91013 AAC41947;AAD47357;AAH04412;AAH07574;AAH11705;ABM83872;ABM87193;CAA62495;EAW75333;EAW75334;NP_001844;Q14050 Hs.716639 1675231;1676228;1682427;1792626;1792628;1792630;1795612 COL9A3_1612;PMC15572P1;PMC15572P2;PMC15572P3;RH16374;RH36237;SHGC-35186 DJ885L7.4.1;EDM3;FLJ90759;IDD;MED OTTHUMP00000031507;collagen IX, alpha-3 polypeptide;collagen alpha-3(IX) chain;collagen type IX proteoglycan APPROVED protein-coding ENSG00000092758 HGNC:2219 00374 120270;600969;603932 REVIEWED 1322869 COL7A1 collagen, type VII, alpha 1 This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008] 3 3 3 p21.1 48557241 48588335 - 48601506 48632593 - 48564073 48595160 - 1600946;1580863;6480464;6484113;7240710;8554872;8699517 8275094 10084325;10232406;10232407;10232408;10233777;10383749;10469344;10504458;10583163;10620140;10652000;10737800;10821839;10836608;11142768;11167698;11168577;11843659;11874498;11986329;12060403;12353709;12485454;12787118;1307247;1469284;14727126;15113589;15365990;1567409;15774758;15810887;15816848;15888141;16169070;16470588;16500083;16923137;16971478;17106611;17229600;17336503;17425959;17495952;17525268;17900868;17916216;18331784;18374850;18429782;18440202;18450758;18496702;18558993;1871109;19197535;19250433;19269366;19367581;19422682;19435799;19486043;19665875;19681861;19945621;20184583;20301481;20555349;20598510;20920254;21113014;21196708;21448560;21482078;21574979;21658117;21879237;22070715;22209565;22266148;22515571;22757647;22939629;22974128;23106673;23226319;23397949;23591773;23624125;23679163;23688405;23769655;23834951;23947675;24117545;24213372;24317394;24357722;2537292;2653224;5910871;7513737;7861014;7883979;7963647;8051117;8088784;8170945;8422754;8499916;8513326;8541842;8592061;8618018;8618021;8644729;8644730;8757758;9169408;9215684;9245798;9326325;9375848;9444387;9668111;9740253;9804332;9840442;9856843;9856844;9881948;9892921;9989793 1294 C9JBL3;Q02388;Q59F16 AB209645;ABBA01024643;ABBA01024644;AC121252;AMYH02006722;BQ300155;CH471055;D13694;L02870;L06862;L23982;M65158;M96984;NG_007065;NM_000094;S51236 AAA36357;AAA58965;AAA75438;AAA89196;AAA96439;AAB24637;BAA02853;BAD92882;EAW64893;EAW64894;EAW64895;EAW64896;EAW64897;NP_000085;Q02388 Hs.476218 1675381;1742173;1742175;1743707;1743913;1743915;1743917;1743919;1743921;1743923;1744053;1744055;1744057;1744059;2180100 GDB:192955;GDB:192956;GDB:371386;GDB:375638;GDB:375655;GDB:375661;GDB:375665;GDB:375668;GDB:375674;GDB:384983;GDB:384984;GDB:384985;GDB:384986;RH48881;RH80100 EBD1;EBDCT;EBR1 LC collagen;OTTHUMP00000164822;collagen VII, alpha-1 polypeptide;collagen alpha-1(VII) chain;long chain collagen;long-chain collagen APPROVED protein-coding ENSG00000114270 HGNC:2214 00358 120120;131705;131750;131850;132000;226600;604129;607523 REVIEWED 1350668 COLEC13 collectin sub-family member 13 408219 HGNC:15745 1342828 COLEC14 collectin sub-family member 14 408220 HGNC:30970 2798065 COLCA2 colorectal cancer associated 2 FOUND IN cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; calcitriol 11 11 11 q23.1 108323163 108332531 + 111169271 111179460 + 111298546 111308735 + 6480464 10737800;12477932;14702039;15489334;16344560;18372901;19240061;21071539;21761138;23266556;24146276;24154973 120376 A8K830 ABBA01039823;AK292195;AMYH02025570;AP002448;BC042557;BC110079;BF811304;BQ893717;DA307321;HY114242;KF740510;KF740511;KF740512;KF740513;KF740514;NM_001136105;NM_001271457;NM_001271458 A8K830;AAI10080;AHA49743;AHA49744;AHA49745;AHA49746;AHA49747;BAF84884;NP_001129577;NP_001258386;NP_001258387 Hs.31409;Hs.744538 1646073;1658336;1697336 D11S4019;RH102165;RH44992 C11orf93;CASC13 OTTHUMP00000233928;OTTHUMP00000233929;OTTHUMP00000233930;Uncharacterized protein LOC120376;cancer susceptibility candidate 13;cancer susceptibility candidate protein 13;colorectal cancer associated two;colorectal cancer-associated protein 2;hypothetical protein LOC120376;uncharacterized protein C11orf93 APPROVED protein-coding ENSG00000214290 HGNC:26978 615694 VALIDATED 1350468 COLEC8 collectin sub-family member 8 (conglutinin) 50638 HGNC:2222 1315981 COL9A2 collagen, type IX, alpha 2 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] 1 1 1 p33-p32 39048555 39065331 - 40766162 40782939 - 40300490 40317693 - 1600952;1580863;6480464;6484113;7240710;8699517;8554872 8528240 10364514;10411504;11308397;11565064;11724554;11805640;12244547;12477932;12782139;1429648;15167667;15523498;15625128;15922184;16133074;16169070;16249825;16371896;16440132;16586133;16710414;17024315;17471097;18080148;18246003;18469698;19180518;19725029;19913121;20301302;20301479;20358595;20628086;21159828;21228751;21311409;21671392;23132862;2446864;24636772;24711017;3473493;7829066;7942845;8244386;8454052;8660302;9707347 1298 B1AKJ1;B1AKJ3;D3DPU8;H0Y409;Q14055 ABBA01023179;AF019406;AL050341;AMYH02000850;AMYH02000851;BC041479;BC065715;BC136326;BC136327;CH471059;M95610;NG_008031;NM_001852;XM_005270480;XM_006710365 AAA80977;AAC33512;AAI36327;AAI36328;EAX07224;EAX07225;EAX07226;EAX07227;EAX07228;EAX07229;EAX07230;EAX07231;EAX07232;NP_001843;Q14055;XP_005270537;XP_006710428 Hs.418012 1698934;1745039;1770970;1777394;2165606;5093622;5127716 A009S44;G32827;GDB:593218;RH103036;RH69207;SHGC-30746;SHGC-35672 DJ39G22.4;EDM2;MED;STL5 OTTHUMP00000006393;alpha 2 type IX collagen;collagen IX, alpha-2 polypeptide;collagen alpha-2(IX) chain APPROVED protein-coding ENSG00000049089 HGNC:2218 00373 120260;600204;603932;614284 REVIEWED 1320152 COLEC11 collectin sub-family member 11 This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 2 2 2 p25.3 3651684 3701058 + 3642422 3692234 + 3594832 3644644 + 6480464;8699517;8554872;7240710 12477932;12975309;17179669;17207965;19724895;19851296;20198315;20237496;20956340;21258343;21664996;21893516;23220946;23954398;24174618 78989 C9JWT5;F8WB29;Q9BWP8 AB119525;AB119650;AB119651;AB119652;AB119684;AB119685;AB119686;AB119687;ABBA01006102;ABBA01006103;AC010907;AK303824;AK313840;AMYH02003194;AMYH02003195;AMYH02003196;AMYH02003197;AY358439;BC000078;BC009951;BE259985;BF316908;BF740034;BM547424;CH471053;CR936641;FB676850;FB676852;FB676854;FB676856;FB676858;FB676885;FB676887;FB676889;NG_031954;NM_001255982;NM_001255983;NM_001255984;NM_001255985;NM_001255986;NM_001255987;NM_001255988;NM_001255989;NM_024027;NM_199235;NR_045659;XM_005263853;XM_006711897 AAH00078;AAH09951;AAQ88805;AAY24235;ADQ31683;BAF43301;BAF43302;BAF43303;BAF43304;BAF79604;BAF79605;BAF79606;BAF79607;BAG36572;BAG64772;CAI56781;CAS03503;CAS03504;CAS03505;CAS03506;CAS03507;CAS03509;CAS03510;CAS03511;EAX01052;EAX01053;EAX01054;EAX01055;NP_001242911;NP_001242912;NP_001242913;NP_001242914;NP_001242915;NP_001242916;NP_001242917;NP_001242918;NP_076932;NP_954705;Q9BWP8;XP_005263910;XP_006711960 Hs.32603;Hs.735715 2156074;2220478;2220672 UniSTS:483400;UniSTS:490061;WI-17765 3MC2;CL-K1;CL-K1-I;CL-K1-II;CL-K1-IIa;CL-K1-IIb;CLK1;DKFZp686N1868;MGC3279 Collectin K1;OTTHUMP00000115352;OTTHUMP00000115353;OTTHUMP00000200061;collectin kidney I;collectin kidney protein 1;collectin-11 APPROVED protein-coding ENSG00000118004 HGNC:17213 10847 265050;612502 REVIEWED 1316172 COLEC10 collectin sub-family member 10 (C-type lectin) This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008] 8 8 8 q23-q24.1 116268405 116308560 + 119964527 120119207 + 118952288 119106968 + 1580863;6480464;8554872 10224141;12450124;12477932;12975309;18445777;19801982;20237496;20548944;21980299;22504420;23437003;24174618;24249740 10584 Q9Y6Z7 AB002631;ABBA01037811;ABBA01037812;AC080033;AC107953;AK291791;AMYH02018673;AMYH02018674;AMYH02018675;AY359038;BC103815;BC103816;CH471060;NM_006438;R97432;XM_005250756 AAI03816;AAI03817;AAQ89397;BAA81747;BAF84480;EAW91979;EAW91980;NP_006429;Q9Y6Z7;XP_005250813 Hs.176615 2161558;2218408 COLEC10_4614;STS-R97432 CL-34;CLL1;MGC118794;MGC118795 OTTHUMP00000228058;collectin 34;collectin liver 1;collectin liver protein 1;collectin-10;collectin-34 APPROVED protein-coding HGNC:2220 07403 607620 REVIEWED 1347762 COLEC9 collectin sub-family member 9 (collectin 43) 50637 HGNC:2223 1602008 COLGALT2 collagen beta(1-O)galactosyltransferase 2 ENCODES a protein that exhibits procollagen galactosyltransferase activity (inferred); INVOLVED IN extracellular matrix organization (inferred); lipopolysaccharide biosynthetic process (inferred); PARTICIPATES IN lysine degradation pathway; O-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum lumen (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 1 1 1 q25 157015884 157117798 - 183898988 184006904 - 183929854 184037770 - 6480464;6907045;8554872 11318611;12477932;14702039;19075007;20189936;20379614;20546612;22268729;2283726;2341393;23563607;2649653;8218172;9628581 23127 B3KT92;Q5SXQ3;Q5SXQ5;Q8IYK4 AB011156;ABBA01027742;AF288389;AK095090;AK095192;AK127287;AK293973;AL157943;AL592299;AMYH02002287;AMYH02002288;BC019709;BC035672;CH471067;DR761966;NM_015101;XM_005245008;XM_005245009;XR_241075 AAG60609;AAH19709;AAH35672;ADZ15460;BAA25510;BAG52983;BAG53004;BAG54474;BAG57345;EAW91170;EAW91171;EAW91172;NP_055916;Q8IYK4;XP_005245065;XP_005245066 Hs.387995 1645718;1666341;1711052;1715933;1735054;1755097;1765323;1776770;1781808;1846934 D1S1769E;D1S1821E;D1S3425;RH122702;SHGC-142028;SHGC-148815;SHGC-156106;SHGC-76030;SHGC-76043;SHGC-86155 C1orf17;FLJ37771;FLJ37873;GLT25D2;KIAA0584 OTTHUMP00000033513;glycosyltransferase 25 domain containing 2;glycosyltransferase 25 family member 2;hydroxylysine galactosyltransferase 2;procollagen galactosyltransferase 2 APPROVED protein-coding ENSG00000198756 HGNC:16790 13583 VALIDATED 1344980 COLGALT1 collagen beta(1-O)galactosyltransferase 1 ENCODES a protein that exhibits procollagen galactosyltransferase activity (inferred); INVOLVED IN extracellular matrix organization (inferred); lipopolysaccharide biosynthetic process (inferred); PARTICIPATES IN lysine degradation pathway; O-linked glycan biosynthetic pathway; FOUND IN endoplasmic reticulum lumen; membrane; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; tunicamycin 19 19 19 p13.11 17568107 17595621 + 17666511 17693968 + 17555702 17583162 + 737633;1580863;6480464;6907045 12477932 14702039;16303743;19075007;19322201;19946888;20470363;21139048;21252943;21942715;22190034;22216269;22268729;22304920;2283726;22939629;23097496;2341393;24457600;24816145;2649653;8125298;8218172 79709 M0QX72;M0QYH0;Q8NBJ5 ABBA01051211;ABBA01051212;ABBA01051213;AC010618;AK025982;AK057140;AK074941;AK075541;AK225397;AL831905;AMYH02035708;BC020492;BC071684;BC081531;BC108308;CH471106;CS051385;NM_024656;XM_005260080 AAH20492;AAH71684;AAI08309;BAB15308;BAC11307;BAC11684;BAG51872;CAI72187;EAW84621;EAW84622;EAW84623;EAW84624;NP_078932;Q8NBJ5;XP_005260137 Hs.418795 1653288;1734662;2128558;2175037;5015619;5022576 D11S3114;D19S1017;D19S622E;D19S667E;D1S1361;STS-AA028143 FLJ22329;GLT25D1;MGC117270 glycosyltransferase 25 domain containing 1;glycosyltransferase 25 family member 1;hydroxylysine galactosyltransferase 1;procollagen galactosyltransferase 1 APPROVED protein-coding ENSG00000130309 HGNC:26182 07986 PROVISIONAL 1323402 COMMD1 copper metabolism (Murr1) domain containing 1 COMMD1 is a regulator of copper homeostasis, sodium uptake, and NF-kappa-B (see MIM 164011) signaling (de Bie et al., 2005 [PubMed 16267171]).[supplied by OMIM, Sep 2009] 2 2 2 p15 61977700 62207946 + 62115904 62363205 + 61888835 62136070 + 6480464;8554872 11329013;11809725;12477932;12547404;12968035;14568250;14645214;14685242;14685266;15205742;15489334;15799966;16267171;16283886;16305817;16573520;16649058;17097678;17183367;17207965;17309234;17919502;18029348;18305112;18624398;18795889;18940794;18974300;19240061;19270718;19339690;19433587;19802386;20048074;20068069;20237237;20379614;20550661;20595380;21139048;21275100;21483833;21741370;21778237;21988832;22130675;22677543;22779921;22990118;23364987;23383273;23515529;23563313;23677795;23892095;25074812;8125298;9001233 150684 E9PE85;H0Y7J4;H7C169;H7C377;Q8N668 AB178811;ABBA01075374;ABBA01075375;ABBA01075376;ABBA01075377;ABBA01075378;ABBA01075379;ABBA01075380;AC018462;AC107081;AC116652;AK223607;AK294203;AMYH02003937;AMYH02003938;AMYH02003939;AMYH02003940;BC009266;BC022046;BG182961;BG183486;BG215225;CH471053;D85433;NM_152516;XM_005264157 AAH09266;AAH22046;AAX93080;AAY24054;AAY24141;ADQ32226;BAD18972;BAD97327;BAG57515;EAW99981;NP_689729;Q8N668;XP_005264214 Hs.468702 1338272;1679031;1746041;1772192;2120064;2137421;5017730 AFMB057ZC1;COMMD1;D2S2165;RH125633;RH70369;RH79649;WI-16949 C2orf5;MGC27155;MURR1 COMM domain-containing protein 1;OTTHUMP00000159817;copper metabolism gene MURR1 APPROVED protein-coding HGNC:23024 06253 607238 VALIDATED 1347237 COLEC12 collectin sub-family member 12 This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, Oct 2011] 18 18 18 p11.32 194506 375871 - 319355 500729 - 319355 500729 - 1580863;6480464;8554872 11162630;11564734;12477932;12601552;12761161;15845541;17043677;18423602;19073604;20034698;20237496;20351715;20379614;21561871;21832049;23251661;23333304 81035 Q5KU26 AA903451;AB005145;AB034251;AB038518;AB052103;ABBA01049810;AL713657;AMYH02034184;AP000915;AP005240;BC060789;CH471113;DB473908;KF456339;NG_030342;NM_130386;XM_006722358 AAH60789;ADZ15648;BAB39147;BAB39148;BAB72147;BAD83592;CAD28466;EAX01728;EAX01729;NP_569057;Q5KU26;XP_006722421 Hs.464422 1653118;1703940;1726329;1731963;1740347;1774595;2218410;5016781;5022651 COLEC12_4615;D11S2921;D18S170;D18S546;D5S1951;G62465;RH47551;SHGC-67307;SHGC-83651 CLP1;NSR2;SCARA4;SRCL;hCL-P1 collectin placenta 1;collectin placenta protein 1;collectin-12;nurse cell scavenger receptor 2;scavenger receptor class A member 4;scavenger receptor class A, member 4;scavenger receptor with C-type lectin APPROVED protein-coding ENSG00000158270 HGNC:16016 06358 607621 REVIEWED 1352305 COLOT1 collagen (type VI, alpha 1), overlapping transcript 1 q22.3 10830953 10596 AF076431 AAD51089 KGC1 protein-coding HGNC:2225 7243668 COMMD3-BMI1 COMMD3-BMI1 readthrough This locus represents naturally occurring read-through transcription between the neighboring COMM domain-containing protein 3 and polycomb complex protein BMI-1 genes on chromosome 10. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011] 10 10 22605312 22620414 + 22316383 22331485 + 6480464;8554872 20967262 100532731 P35226;Q5T8Z1;R4GMW6;R4GMX3;R4GN54 ABBA01034480;ABBA01034481;ABBA01034482;AK313235;AL158211;AMYH02022431;AMYH02022432;AMYH02022433;AMYH02022434;AMYH02022435;NM_001204062 BAG36046;NP_001190991 Hs.380403 1645614;1736000;2111065;2181296 D10S1289E;D10S2352;D2S238E;WI-11394 COMMD3-BMI1 read-through protein protein-coding HGNC:48326 VALIDATED 1349755 COMMD3 COMM domain containing 3 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 1-nitropyrene; 17beta-estradiol; 5-aza-2'-deoxycytidine 10 10 10 p12.2 22293008 22296946 + 22605312 22609246 + 22316383 22320317 + 1580863;6480464;8554872 11042152;12477932;15489334;15799966;16169070;21139048;21890473;21900206;21906983;21963094;21988832;22939629;24816145 23412 H0Y4E5;H0Y4W0;H0Y6Z9;Q9UBI1;R4GN06;R4GNF2 ABBA01034482;AF078848;AF201948;AK128789;AL158211;AMYH02022431;AW169042;AY542159;BC022898;BF695081;BG496810;BQ930333;BX647275;CH471072;NM_012071 AAD44480;AAF17240;AAH22898;AAS22241;BAG54735;EAW86149;EAW86155;NP_036203;Q9UBI1 Hs.534398 1648732;1667778;2168241;2174855;2178215 D10S2413;RH44345;RH64946;SGC34623;SGC35060 BUP;C10orf8;DKFZp686K0399;FLJ45471 COMM domain-containing protein 3;OTTHUMP00000019286;OTTHUMP00000019287;OTTHUMP00000019288;OTTHUMP00000019289 protein-coding HGNC:23332 13082 VALIDATED 736660 COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p25 15429870 15501486 - 15491640 15563277 - 15450133 15521751 - 704404;1300297;1580863;6480464;7240710;8554872;8699517 10087275 10441569;10529218;10679527;11865139;12477932;12609505;14759258;15159418;15489334;15526038;16256971;17300939;18180250;20301347;20370815;20972266;22088788;22490774;23553736;24281389;9689136;9758617 8292 Q9Y215;S4R408 ABBA01025140;ABBA01025141;AC027125;AC027129;AF057036;AF229118;AF229122;AF229124;AF229126;AI246303;AI554171;AJ225895;AK128401;AK289688;AMYH02006331;AY150334;AY150335;AY150336;AY150337;AY150338;AY150339;BC074828;BC074829;BC126363;BC144004;BX500613;CH471055;KF457603;KF495776;NG_009032;NM_005677;NM_080538;NM_080539 AAC39927;AAF43195;AAF43196;AAF43197;AAF43198;AAF43199;AAF43200;AAF43201;AAF43202;AAH74828;AAH74829;AAO06814;AAO06815;AAO06816;AAO06817;AAO06818;AAO06819;BAF82377;BAG54671;CAA12648;EAW64235;EAW64236;EAW64237;EAW64238;EAW64239;EAW64240;EAW64241;EAW64242;EAW64243;EAW64244;EAW64245;EAW64246;EAW64247;EAW64248;EAW64249;EAW64250;NP_005668;NP_536799;NP_536800;Q9Y215 Hs.146735 1794412;2107947;2113720;2126747 COLQ;COLQ_548;PMC311069P6;WI-17996 EAD;FLJ55041 AChE Q subunit;OTTHUMP00000209564;OTTHUMP00000209565;OTTHUMP00000209566;OTTHUMP00000209567;OTTHUMP00000210839;acetylcholinesterase collagenic tail peptide;acetylcholinesterase-associated collagen;collagenic tail of endplate acetylcholinesterase;single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase APPROVED protein-coding ENSG00000206561 HGNC:2226 04328 603033;603034 REVIEWED 1348607 COMMD5 COMM domain containing 5 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(II) chloride; rosiglitazone; tunicamycin 8 8 8 q24.3 142252099 142255480 - 146075551 146078932 - 144837974 144853578 - 1580863;6480464;8554872 10918053;10931946;11871861;12477932;14702039;15489334;15799966;18949406;19795399;21921141;21963094;24816145 28991 E9PJE4;H0YEQ6;Q9GZQ3 ABBA01005194;AF113540;AF235103;AF290195;AK001477;AK023070;AMYH02019019;AW137480;AX405845;AX880097;BC002672;BC003055;BC065729;BG705627;BI753202;BM013651;BM924244;BQ680339;BU508224;BU600590;CH471162;H92104;NM_001081003;NM_001081004;NM_001287237;NM_014066;XM_005272314;XR_428379 AAF14877;AAG09915;AAH02672;AAH03055;AAH65729;BAA91714;BAB14389;CAD34952;CAE90801;EAW82033;EAW82034;EAW82035;EAW82036;EAW82037;NP_001074472;NP_001074473;NP_001274166;NP_054785;Q9GZQ3;XP_005272371 Hs.631856 1778768 RH71436 FLJ13008;HCARG;HT002;MGC72046 COMM domain-containing protein 5;OTTHUMP00000229074;OTTHUMP00000229075;OTTHUMP00000229076;OTTHUMP00000229078;hypertension-related calcium-regulated gene protein protein-coding ENSG00000170619 HGNC:17902 16301 608216 VALIDATED 1346630 COMMD10 COMM domain containing 10 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; aflatoxin B1 5 5 5 q23.1 111369127 111578514 + 115420727 115628978 + 116085030 116293281 + 6480464 11042152;12477932;14702039;15489334;15799966;17207965;19913121;20628086;21139048;22228203;22688191;22939629;23563313;23934736 51397 D6RC04;D6RJ90;H0Y9N4;Q9Y6G5 ABBA01069024;ABBA01069025;ABBA01069026;ABBA01069027;ABBA01069028;AC018752;AC034236;AC109456;AF078857;AF161423;AK002147;AMYH02012011;AMYH02012012;AY542165;BC005179;CH471086;NM_016144 AAD44489;AAF28983;AAH05179;AAS22247;ADQ31639;BAA92108;EAW48941;EAW48942;EAW48943;NP_057228;Q9Y6G5 Hs.483136 1668368;1700978;1705290;1709386;1723711;1724791;1755393;1780858;1788998;1789124;2130995;2152916;2179220;2210948 G65578;G65698;RH104116;RH121423;RH122602;RH66590;SHGC-142273;SHGC-30887;SHGC-78602;SHGC-81710;STS-H82747;STS-H92882;bac53028T;stSG629961 FLJ11285;PTD002 COMM domain-containing protein 10;OTTHUMP00000222922;OTTHUMP00000222923 protein-coding ENSG00000145781 HGNC:30201 16734 PROVISIONAL 1317181 COMMD7 COMM domain containing 7 ENCODES a protein that exhibits NF-kappaB binding; INVOLVED IN negative regulation of NF-kappaB transcription factor activity; negative regulation of transcription, DNA-templated; tumor necrosis factor-mediated signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; arsenite(3-); copper(2+) sulfate 20 20 20 q11.21 28045955 28085739 - 31290493 31331814 - 32702691 32744008 - 6480464 10393949;11780052;12477932;14702039;15489334;15799966;20379614;20979692;21890473;22939629;23049798 149951 Q86VX2;V9GY66;V9GYC5 ABBA01019254;ABBA01019255;ABBA01019256;ABBA01019257;AJ012490;AK027893;AK096307;AK097059;AL035071;AMYH02036936;AMYH02036937;AMYH02036938;AMYH02036939;AMYH02036940;AMYH02036941;AY542162;BC000628;BC022073;BC047440;BG715846;BQ006261;BX640505;CH471077;DN993528;FQ976907;NM_001099339;NM_053041;XM_005260299;XM_005260300 AAH00628;AAH47440;AAS22244;BAB55436;BAG53254;EAW76357;EAW76358;EAW76359;EAW76360;EAW76361;EAW76362;EAW76363;EAW76364;NP_001092809;NP_444269;Q86VX2;XP_005260356;XP_005260357 Hs.408427 1677634;2131005;2163467 D20S1117;RH25024;WI-20368 C20orf92;FLJ14987;MGC33315;dJ1085F17.3 COMM domain-containing protein 7;OTTHUMP00000030609 protein-coding ENSG00000149600 HGNC:16223 13085 VALIDATED 1314525 COMMD4 COMM domain containing 4 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH (+)-catechin; cobalt dichloride; copper(2+) sulfate 15 15 15 q24.2 52554815 52559052 + 75628352 75634268 + 75335996 75341927 + 6480464;8554872 11230166;11256614;12477932;14702039;15489334;15799966;21139048;21890473;21906983;21963094;21988832;22053931;22939629;23000965;8125298 54939 H3BM91;H3BPG2;H3BQF2;H3BRX0;H3BTV9;Q9H0A8 ABBA01060521;AC068338;AK000459;AK057145;AK225716;AK293708;AK314740;AL136872;AMYH02030814;AW117823;AX405709;AY542160;BC000837;BC033744;BC040944;BC068998;BC069195;BI829264;BI829484;BQ233598;BU540913;CH471136;CR533452;DB524201;HY162014;NM_001284377;NM_001284378;NM_001284379;NM_017828;NR_104312;NR_104313;XM_005254509;XM_005254510;XM_005254511;XM_005254512 AAH00837;AAH68998;AAS22242;BAA91178;BAG37281;BAG57141;CAB66806;CAD34816;CAG38483;EAW99261;EAW99262;EAW99263;NP_001271306;NP_001271307;NP_001271308;NP_060298;Q9H0A8;XP_005254566;XP_005254567;XP_005254568;XP_005254569 Hs.351327 1736482;2162970;2169525;5117897 A005A02;D15S694E;G10209;GDB:631813 FLJ20452 COMM domain-containing protein 4;OTTHUMP00000183484;OTTHUMP00000233101 protein-coding ENSG00000140365 HGNC:26027 13083 VALIDATED 1319139 COMMD2 COMM domain containing 2 INTERACTS WITH atrazine; copper(2+) sulfate; copper(II) chloride 3 3 3 q25.1 147869609 147883636 - 149456257 149470287 - 149738470 149752500 - 6480464 11042152;12477932;14702039;15489334;15799966;16344560;17207965;21832049;8889548 51122 F8WBW1;F8WC41;Q86X83 ABBA01058939;AC069216;AF059618;AF125096;AK055223;AMYH02007886;AY542158;BC001228;BC022206;BC046131;BC093077;BG700015;BI792102;BM981499;BQ216242;BU633168;CH471052;DA811158;NM_016094;XR_241494 AAD39913;AAG43117;AAH46131;AAH93077;AAS22240;ADQ33102;EAW78866;EAW78867;NP_057178;Q86X83 Hs.432729 1707326;2109177;2130213;2165073;2174665;5491308 COMMD2_9668;RH12720;RH135840;SHGC-36841;SHGC-77440;SHGC-79272 HSPC042;MGC57611 COMM domain-containing protein 2;OTTHUMP00000216006;OTTHUMP00000216008;OTTHUMP00000216009 protein-coding ENSG00000114744 HGNC:24993 13081 VALIDATED 1315279 COMTD1 catechol-O-methyltransferase domain containing 1 ENCODES a protein that exhibits O-methyltransferase activity (inferred); INVOLVED IN methylation (inferred); FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH (+)-catechin; (-)-demecolcine; all-trans-retinoic acid 10 10 10 q22.2 70281988 70284029 - 76992760 76995802 - 75233971 75236012 - 737633;1580863;6480464 12477932 12975309;14702039;15164054;15231747;15489334;16385451;20877624;22747683;22990118 118881 Q86VU5;R4GNF4 ABBA01020260;AK074421;AK290452;AK302283;AL390034;AMYH02023363;AY358476;BC023663;BC047774;CH471083;NM_144589 AAH23663;AAH47774;AAQ88840;BAB85077;BAF83141;BAG63626;EAW54575;EAW54576;NP_653190;Q86VU5 Hs.355333 2118541 RH48100 FLJ23841 OTTHUMP00000019881;catechol O-methyltransferase domain-containing protein 1 protein-coding ENSG00000165644 HGNC:26309 08678 PROVISIONAL 1344337 COP clathrin-ordered protein 1313 HGNC:2229 1606132 COMMD6 COMM domain containing 6 COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006 [PubMed 16573520]).[supplied by OMIM, Mar 2009] 13 13 13 q22 56997220 57009856 - 76099350 76111991 - 75525214 75549439 - 6480464 11829485;12477932;15057823;15489334;15799966;16573520;21139048;21890473;22505724;22939629;23000965;23383273;23562823;23563313 170622 B0QZ40;H7C607;Q7Z4G1 AA425275;ABBA01021643;ABBA01021644;AF086081;AF169971;AK000009;AL137244;AMYH02028280;AW516002;AY542161;BC110837;BC117391;BC143912;BC171758;BM476717;BX106312;BX538116;CD175553;CH471093;DB487154;DB489071;DB509325;DB574884;HY028175;HY045286;HY105279;NM_001287392;NM_001287393;NM_001287394;NM_203495;NM_203497;W94914;XM_006719769 AAI17392;AAI43913;AAI71758;AAQ13599;AAS22243;ADR83450;EAW80539;EAW80540;EAW80541;NP_001274321;NP_001274322;NP_001274323;NP_987091;NP_987093;Q7Z4G1;XP_006719832 Hs.508266;Hs.713055 1685433;1700430;2111630 D13S1565;RH103836;RH99040 Acrg Acrg embryonic lethality minimal region ortholog;COMM domain-containing protein 6;OTTHUMP00000018507;OTTHUMP00000200355 APPROVED protein-coding ENSG00000188243 HGNC:24015 13084 612377 VALIDATED 736605 COMP cartilage oligomeric matrix protein The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2008] 19 19 19 p13.1 18798378 18806909 - 18893583 18902114 - 18782773 18791305 - 1600702;1600705;1580863;6480464;6907045;7240710;8554872;8699517 7670471;7670472 10405447;10852928;11084047;11501943;11565064;11746044;11746045;11782471;11891674;12225811;12477932;12483304;12768438;12792737;12819015;15047691;15057824;15075323;15266613;15472220;15489334;15523498;15694129;15749701;15880723;16051604;16214313;16340129;16344560;16520029;16542502;16802351;17033713;17195216;17570134;17579668;17588949;17894003;17993464;18193163;18485748;18855621;19035482;19087608;19125286;19276170;19447929;19605679;19762713;19877068;19913121;20033473;20301302;20301660;20544356;20628086;20819661;21029365;21042783;21221577;21599986;21616158;21644213;21834907;21843649;21872564;21922596;21940632;21965141;22068351;22163547;22241609;22253028;22264230;22573329;22660798;22764748;23133613;23507196;23528838;23562786;23915292;23959964;24187101;24229584;24376648;7533784;7713493;8125298;8279467;8307576;9021009;9184241;9463320;9685393;9749943;9887340;9921895 1311 G3XAP6;P49747 AB086984;ABBA01051290;AC003107;AK074508;AK223216;AK290595;AK296586;AK297798;AK297814;AMYH02035743;AU120397;BC033676;BC110847;BC125092;CH471106;KF511259;L32137;NG_007070;NM_000095;S79499;S79500 AAA57253;AAB35269;AAB35270;AAB86501;AAI10848;AAI25093;ABM84218;ABM87644;BAC11031;BAC53888;BAD96936;BAF83284;BAG59205;BAG60137;BAG60152;EAW84735;EAW84736;EAW84737;NP_000086;P49747 Hs.1584 1745897;1745899;1858202;2135692;5491852 COMP;GDB:681601;GDB:681607;STS-L32137;STS-N94385 EDM1;EPD1;MED;MGC131819;MGC149768;PSACH;THBS5;TSP5 OTTHUMP00000240772;OTTHUMP00000240773;OTTHUMP00000240774;cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple);cartilage oligomeric matrix protein(pseudoachondroplasia, epiphyseal dysplasia 1, multiple);pseudoachondroplasia (epiphyseal dysplasia 1, multiple);thrombospondin-5 APPROVED protein-coding ENSG00000105664 HGNC:2227 02632 132400;177170;600310 REVIEWED 731922 COPB1 coatomer protein complex, subunit beta 1 This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] 11 11 11 p15.2 14604116 14646512 - 14479049 14521441 - 14457503 14499895 - 1580863;5131491;6480464;8554872 18491053 10199403;10318838;10720466;10921873;10982407;11031247;11056392;11076863;11230166;11264386;11409905;11463741;11703931;11884415;11897493;12134073;12388752;12437930;12463424;12477932;12486083;12582157;14527956;14702039;14729954;15123239;15202998;15489334;15489336;16189514;16196087;16344560;16381901;16713569;16956762;17110338;17140284;17148452;1840503;18556652;18725938;1898986;19149577;19738201;19946888;20360068;20622010;21081666;21139048;21319273;21543478;21693764;21832049;21890473;21906983;21963094;21987572;21988832;22268729;22337587;22586326;22797925;22863883;22939629;23000965;23182705;23402259;23559827;23752268;23772394;23862649;24457600;24816145;25027693;25036637;7982906;8355790;8533093;8599108;8601610;8858162;8940050;9017839;9207175;9482852;9751720 1315 E9PKQ1;E9PP63;E9PP73;P53618 AA443270;ABBA01061105;ABBA01061106;ABBA01061107;AC018523;AF084457;AF111807;AK001203;AK128844;AL136593;AMYH02024353;AMYH02024354;AMYH02024355;AMYH02024356;BC012572;BC037280;CH471064;DA725605;DB455108;NM_001144061;NM_001144062;NM_016451;X82103 AAD41240;AAH37280;AAL39009;ABM83405;ABM86616;CAA57622;CAB66528;CAL38259;EAW68481;EAW68482;EAW68483;EAW68484;EAW68485;NP_001137533;NP_001137534;NP_057535;P53618 Hs.339278 1648176;1731521;2136118;2183669 A002G21;D11S1245;D11S861;HSC1BE082 COPB;DKFZp761K102;FLJ10341;FLJ46444;FLJ57957 OTTHUMP00000231098;OTTHUMP00000231099;beta coat protein;beta-coat protein;beta-cop;coatomer subunit beta APPROVED protein-coding ENSG00000129083 HGNC:2231 02981 600959 REVIEWED 1317050 COMMD9 COMM domain containing 9 INTERACTS WITH atrazine; copper(2+) sulfate; valproic acid 11 11 11 p13 36441880 36459455 - 36293842 36310999 - 36272292 36289449 - 6480464 11042152;11230166;12477932;14702039;15489334;15799966;21139048;22939629;23563313;24816145;8125298 29099 E9PJ95;Q53FR9;Q9P000 ABBA01060850;AC087277;AF161515;AI090006;AK055668;AK223213;AK290065;AK295590;AK298978;AK314477;AL136688;AMYH02024605;AY542164;BC010892;BC092458;BC108685;BG702189;BM172201;CH471064;NM_001101653;NM_014186 AAF29130;AAH10892;AAS22246;ABM83598;ABM86840;BAD96933;BAF82754;BAG37082;BAG51551;BAG58482;BAG61072;CAB66623;EAW68128;EAW68129;EAW68130;NP_001095123;NP_054905;Q9P000 Hs.279836 2109181;2139408;2160214;5014051;5022578;5037552;5115844 COMMD9_9578;D11S2307E;D1S1423;D8S2278;D8S2279;RH64870;ksks33 FLJ31106;HSPC166 COMM domain-containing protein 9;OTTHUMP00000232633;OTTHUMP00000232634;OTTHUMP00000232635 protein-coding ENSG00000110442 HGNC:25014 13087 612299 VALIDATED 1313413 COMMD8 COMM domain containing 8 INTERACTS WITH 17beta-estradiol; aflatoxin B1; copper(2+) sulfate 4 4 4 p12 47901361 47914236 - 47452815 47465676 - 47450793 47463665 - 6480464 12477932;14702039;15489334;15799966;16169070;17207965;20379614;21139048;21890473;21900206;22939629;23000965;23563313;24250222;24816145 54951 Q9NX08 ABBA01014335;ABBA01014336;AC107398;AF182421;AK000509;AMYH02009161;AY542163;BC008371;BC015145;BC019826;CH471069;NM_017845;XM_006714019 AAG14957;AAH08371;AAH15145;AAH19826;AAS22245;ADQ32450;BAA91216;EAW93033;EAW93034;NP_060315;Q9NX08;XP_006714082 Hs.23956 2109179;2158320;2158322 A005Z20;COMMD8_9853;G20623 FLJ20502 COMM domain-containing protein 8;OTTHUMP00000125283 protein-coding ENSG00000169019 HGNC:26036 13086 PROVISIONAL 1345265 COPG1 coatomer protein complex, subunit gamma 1 ENCODES a protein that exhibits structural molecule activity (inferred); INVOLVED IN establishment of Golgi localization (ortholog); organelle transport along microtubule (ortholog); FOUND IN COPI vesicle coat (ortholog); Golgi membrane (ortholog); INTERACTS WITH benzo[a]pyrene; cyclosporin A; elemental selenium 3 3 3 q21.3 127399234 127427322 + 128968453 128996616 + 129249610 129277773 + 1580863;6480464 10720466;10921873;10931946;10982407;11018518;11031247;11056392;11884415;11893085;12134073;12388752;12477932;14527956;14690497;14702039;14729954;15489334;16956762;17148452;17314511;17353931;18029348;18781797;19039328;19471022;19615732;19738201;20360068;20468064;20562859;21139048;21890473;21900206;21906983;21988832;22586326;22863883;22939629;23000965;23402259;23427261;23862649;24250222;24457600;24816145;25015289;25027693;25036637;8533093;8599108;8858162;8940050;9482852;9751720 22820 D6RG17;H0Y8G2;H0Y8X7;Q9Y678 AB047846;ABBA01020933;ABBA01020934;AC137695;AF100756;AK001724;AK024721;AK025147;AK123939;AK291693;AK309821;AMYH02007637;AMYH02007638;BC020498;BC066650;BU521557;CH471052;NM_016128 AAD43020;AAH20498;AAH66650;BAB17657;BAF84382;BAG50968;BAG53983;EAW79267;EAW79268;EAW79269;EAW79270;NP_057212;Q9Y678 Hs.518250 1678533;1854077;2149065;2160648 D3S3816;DBEST27818;HSC2JD062;RH98834 COPG;FLJ21068;gamma-1-COP;gamma-COP OTTHUMP00000215377;coat protein gamma-cop;coatomer subunit gamma;coatomer subunit gamma-1;gamma-1-coat protein;gamma-coat protein APPROVED protein-coding ENSG00000181789 HGNC:2236 09887 615525 VALIDATED 1321477 COPA coatomer protein complex, subunit alpha In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 133327140 133382113 - 160258377 160313354 - 160288587 160343564 - 1580863;6480464;6484113;8554872 10921873;11031247;11323436;12379802;12388752;12477932;12586295;1429581;14527956;14729954;15302935;15592455;16169070;16196087;16956762;16964243;17081983;17215244;18781797;19199708;19509059;19596686;19615732;19738201;19765186;19946888;20360068;20473970;20562859;21139048;21252943;21300694;21319273;21853274;21890473;21906983;21963094;21987572;22053931;22268729;22335553;22337587;22505724;22586326;22623428;22797925;22863883;22939629;23000965;23125841;23727837;23862649;24332808;24457600;24654937;24816145;25027693;25036637;8355790;8533093;8537409;8599108;8647451;8703076;8858162;8940050;9115636;9186507;9207175;9365789;9482852;9533652;9751720 1314 P53621 ABBA01016612;ABBA01016613;AK129830;AK307953;AL445230;AL513282;AMYH02002024;BC037941;BC038447;CH471121;CQ871262;DC308331;NM_001098398;NM_004371;U24105 AAB70879;AAH38447;CAH56812;EAW52723;EAW52724;EAW52725;NP_001091868;NP_004362;P53621 Hs.162121;Hs.685025 1673385;1735982;1736204;1846757;2119818;2137080;2160668;2168046;2181063 A002P23;D1S2004E;D1S2032E;D4S3307;RH36199;RH36433;RH47886;SHGC-31631;STS-T81091 FLJ26320;HEP-COP HEPCOP;OTTHUMP00000031846;OTTHUMP00000031847;alpha coat protein;alpha-COP;alpha-coat protein;coatomer subunit alpha;proxenin;xenin APPROVED protein-coding ENSG00000122218 HGNC:2230 03564 601924 REVIEWED 732794 COPB2 coatomer protein complex, subunit beta 2 (beta prime) The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002] 3 3 3 q23 137499384 137531480 - 139076433 139108522 - 139357591 139389680 - 1580863;6480464;8554872 10921873;10982407;11030615;11031247;11323436;11897493;12388752;12477932;12665801;14527956;14729954;14743216;15489334;16196087;16956762;17081983;17220478;17353931;18029348;18434597;18781797;20360068;20362547;20562859;21081666;21139048;21890473;21906983;21963094;21988832;22268729;22337587;22446961;22505724;22586326;22863883;22939629;23000965;24250222;24457600;24654937;24816145;25011449;25027693;25036637;8334999;8335000;8533093;8537409;8599108;8940050;9360998;9482852;9751720;9858824 9276 D6R997;D6RBG7;D6RBT6;D6RBZ7;D6RCL6;H0Y938;H0YAC7;P35606 ABBA01059064;AC024933;AK302943;AK304219;AMYH02007788;BC000326;CH471052;CS185545;DC347783;DC385126;NM_004766;NR_023350;X70476 AAH00326;ADZ15522;BAG64100;BAG65091;CAA49900;CAJ42726;EAW79039;EAW79040;NP_004757;P35606 Hs.681616 1684698;2159059;2180000;5094977;5107726 COPB2;D3S2902E;D3S3336;RH48045;RH93913 beta'-COP;p102 OTTHUMP00000217144;OTTHUMP00000217145;beta'-coat protein;betaprime-COP;coatomer binding complex, beta prime subunit;coatomer subunit beta' APPROVED protein-coding ENSG00000184432 HGNC:2232 06103 606990 VALIDATED 1351075 COPG2IT1 COPG2 imprinted transcript 1 (non-protein coding) 7 7 q32 124969310 124978774 + 130543453 130546900 + 10995575;14702039;19844787;8619474;9110174 53844 ABBA01057584;AF038190;AK123640;AUXG01000058;CH236950;NR_024086 Hs.715567 1647664;2127795;2184864 D7S2945;RH66577;T16134 CIT1;COPG2AS;DKFZP761N09121;FLJ41646;NCRNA00170 ncrna HGNC:2238 610581 VALIDATED 1315598 COPE coatomer protein complex, subunit epsilon The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 19 19 19 p13.11 18915147 18935023 - 19010323 19030199 - 18899514 18919390 - 1580863;6480464 10469566;10531302;10921873;11031247;11076863;11230166;11256614;11323436;12388752;12477932;12665801;14527956;14702039;15057824;15489334;15489336;16169070;16196087;16381901;16956762;17140284;17721809;18781797;19632984;19738201;20237496;20360068;20639865;21139048;21890473;21906983;22053931;22337587;22863883;22939629;22990118;23000965;23383273;23402259;23824909;24778252;24816145;25015289;25027693;25036637;8125298;8355790;8533093;8599108;8858162;8940050;9482852;9751720 11316 M0QXB4;M0R061;O14579 ABBA01051296;ABBA01051297;ABBA01051298;AC002985;AC005197;AF092438;AI680336;AJ131182;AJ249366;AK023303;AK222584;AK315281;AL136928;AMYH02035745;BC003155;BC007250;BC017285;BC052619;BI520280;CH471106;CR456886;HH768353;HH768391;NM_007263;NM_199442;NM_199444 AAB81543;AAC24612;AAH03155;AAH07250;AAH17285;AAP97213;ABM84343;ABM87734;BAD96304;BAG37690;CAA10316;CAB55628;CAB66862;CAG33167;CAL38636;CBX84922;CBX84941;EAW84748;EAW84749;EAW84750;EAW84751;EAW84752;EAW84753;EAW84754;EAW84755;EAW84756;EAW84757;NP_009194;NP_955474;NP_955476;O14579 Hs.10326 2119561 RH48244 FLJ13241;epsilon-COP coatomer epsilon subunit;coatomer subunit epsilon;epsilon coat protein;epsilon-coat protein APPROVED protein-coding ENSG00000105669 HGNC:2234 06089 606942 REVIEWED 737102 COMT catechol-O-methyltransferase Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008] 22 22 22 q11.21 3780539 3808699 + 19929263 19957498 + 19941740 19969975 + 1300384;1300383;1359089;1580863;1300298;2289709;2289710;2289711;2289713;2289714;2289716;2289717;2289719;2289720;2289721;2289722;2289723;2289724;2289726;2289729;2289734;2289780;2289781;2289788;2289789;1300048;2289712;2289715;2289718;2289725;2289740;2289742;2289747;2289785;2289787;6480464;6907045;7240710;8662328;8662334;8662344;8699517;8662333;8662335;8662329;8662332;8662336;8662343;8662330;8662326 10755383;11142424;11840516;12010186;12036914;12402217;12584150;12711835;12810635;14714585;15010821;15285606;15596044;15698633;16126332;16437585;16443508;16492910;16542182;16730007;17084978;17143180;17220335;17240060;17429315;17442187;17497175;17507616;17507624;17510509;17535988;17562079;17978496;18064318;19112571;19881467;20184498;20726980;21898113;24001377;24915010;6337293;7437264;9707588 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1312 E7EMS6;E7EUU8;F8WBW9;H7BZ45;P21964 ABBA01005400;AC000080;AC000090;AC005663;AK130031;AK290440;AMYH02038052;AMYH02038053;AMYH02038054;AMYH02038055;AY341246;BC000419;BC005867;BC011935;BC100018;BE386545;BE728779;BT007125;BX461394;CH471176;CR456422;CR456997;EF103917;EF103918;EF103921;EF103922;EF217321;EF217322;FJ224345;FJ410131;FJ410132;M58525;M65212;M65213;NG_011526;NM_000754;NM_001135161;NM_001135162;NM_007310;XM_005261229;Z26491 AAA68927;AAA68928;AAA68929;AAH00419;AAH05867;AAH11935;AAI00019;AAP35789;AAP88929;ABM84337;ABM87731;ABN14344;ABN14345;ACI46037;ACJ38231;ACJ38232;BAF83129;CAA81263;CAG30308;CAG33278;CAK54414;CAK54713;EAX03010;EAX03011;NP_000745;NP_001128633;NP_001128634;NP_009294;P21964;XP_005261286 Hs.370408;Hs.713616 1645894;1683313;1683387;1748239;1748241;1791175;1791898;1793310;2112438;2112486;2112492;2114366 D22S1609;D22S1662;D22S1663;D22S873;G66727;G66728;PMC130047P3;PMC20764P1;RH17808;RH27791;RH93076;WI-22519 HEL-S-98n OTTHUMP00000197748;OTTHUMP00000197749;OTTHUMP00000197750;OTTHUMP00000197751;OTTHUMP00000197846;OTTHUMP00000198331;catechol O-methyltransferase;epididymis secretory sperm binding protein Li 98n APPROVED protein-coding ENSG00000093010 HGNC:2228 00284 116790;167870;181500 REVIEWED 1347391 COPG2 coatomer protein complex, subunit gamma 2 ENCODES a protein that exhibits structural molecule activity (inferred); INVOLVED IN intra-Golgi vesicle-mediated transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN COPI vesicle coat; INTERACTS WITH 2-methylcholine; benzo[a]pyrene; hydrogen peroxide 7 7 7 q32 124941854 125101434 - 130146079 130353598 - 130506238 130668758 - 1580863;6480464;8554872 10318838;10556286;10921873;10995575;11030615;11056392;11409905;11884415;11893085;11920156;12477932;12690205;12747765;14702039;14729954;1472999;17148452;17314511;17353931;1898986;19322201;20195357;21139048;21890473;21906983;22268729;22456293;22586326;22939629;22990118;23125841;24816145;25027693;25036637;8940050;9751720 26958 H7C1T7;H9KV41;Q9NSM7;Q9UBF2 AB047847;ABBA01057583;ABBA01057584;ABBA01057585;ABBA01057586;ABBA01057587;AC007938;AC009274;AC090520;AC144863;AC145213;AC145656;AC234644;AF157833;AF207598;AF308295;AF324497;AI566718;AK002086;AK022934;AK024414;AK291409;AL162012;AMYH02016755;AMYH02016756;AMYH02016757;AMYH02016758;AMYH02016759;AMYH02016760;AMYH02016761;AUXG01000058;BC017443;BC110796;BG470623;BG704011;BX089636;BX353590;CH236950;CH471070;HY355769;NM_001290033;NM_012133 AAF14271;AAF19433;AAG48262;AAH17443;AAI10797;AAL17778;BAA92078;BAB14315;BAB17658;BAF84098;BAG51296;CAB82364;EAL24085;EAW83769;NP_001276962;NP_036265;Q9UBF2 Hs.6421 1647664;1666061;1695426;1711334;1847069;2127795;2128889;2184864;2186448;2218754;5093254 A009K17;COPG2_4062;D7S2945;G32611;RH12524;RH48848;RH66577;SHGC-68793;SHGC-84921;T16134;WI-18390 2-COP;DKFZp761N09121;FLJ11781 coat protein, nonclathrin, gamma-2-cop;coatomer subunit gamma-2;gamma-2-COP;gamma-2-coat protein protein-coding ENSG00000158623 HGNC:2237 05074 604355 VALIDATED 1626577 COPS5P1 COP9 signalosome subunit 5 pseudogene 1 6 6 6 q16.1 94222284 94223442 - 93801512 93802670 - 93091794 93092952 - 135270 ABBA01040579;AL138731;AMYH02014121;NG_003102 COPS5P APPROVED pseudo HGNC:24332 INFERRED 1345570 COPS4 COP9 signalosome subunit 4 This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 4 4 4 q21.22 81246788 81287480 + 83956239 83996971 + 83035086 83075818 + 1304475;1580863;6480464 9707402 10585392;10903862;10991940;11114242;11285227;11337588;11567875;11824616;12220626;12477932;12615944;12628923;12732143;14647295;14702039;15161933;15489334;16036220;16045761;16189514;16196087;16260596;16503656;16624822;16949367;16964240;17079684;17353931;17403899;18029348;18606781;18850735;19141280;19295130;19615732;19656241;20195357;20360068;20399188;21102408;21139048;21145461;21890473;21903422;21963094;22032989;22190034;22268729;22414063;22767593;22863883;22939629;22948661;22952844;23086934;23275442;23658844;23824909;24390425;24816145;25043011;8125298;9535219;9847074 51138 B3KM48;D6RAX7;D6RD63;D6REK7;D6RFN0;Q9BT78 ABBA01063454;ABBA01063455;ABBA01063456;AC021105;AC073840;AC108473;AF100757;AK001148;AK001210;AK024005;AK094238;AK223178;AMYH02009612;BC004302;BC009292;BC093007;CD690475;CH471057;NM_001258006;NM_016129 AAD43021;AAH04302;AAH09292;AAH93007;ADZ15915;BAA91555;BAD96898;BAG50860;BAG51250;BAG52847;EAX05921;EAX05922;NP_001244935;NP_057213;Q9BT78 Hs.190384 1713985;1720273;2112750;2143497;2143499;2146007;2176357;2217184;5015619 COPS4_2679;D11S3114;D3S4442;D4S3102;G34993;RH119422;RH123885;SHGC-50483;STS-Z40742 CSN4;MGC10899;MGC15160;SGN4 COP9 constitutive photomorphogenic homolog subunit 4;COP9 signalosome complex subunit 4;JAB1-containing signalosome subunit 4;OTTHUMP00000160811;OTTHUMP00000219385;OTTHUMP00000219386;OTTHUMP00000219387;OTTHUMP00000219389;signalosome subunit 4 APPROVED protein-coding ENSG00000138663 HGNC:16702 09888 616008 REVIEWED 1602321 COPRS coordinator of PRMT5, differentiation stimulator ENCODES a protein that exhibits histone binding; INVOLVED IN histone H4-R3 methylation; muscle organ development (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH calcitriol; copper(2+) sulfate; testosterone 17 17 17 q11.2 27098524 27105966 - 30178884 30186326 - 31851865 31859307 - 6480464;8554872 10843809;12477932;17620599;17632510;18404153;19615732;22193545;23184937;23438482 55352 H9KV77;J3QRX4;J3QRX6;J3QRX9;Q9NQ92 ABBA01014949;AC004253;AF407672;AJ272196;AK024772;AMYH02033305;BC012386;BC035483;BQ671018;CH471147;DB472863;NM_018405;XM_005258000 AAH12386;AAK97661;CAB77267;EAW80260;EAW80261;EAW80262;EAW80263;NP_060875;Q9NQ92;XP_005258057 Hs.462729 1671517;1676836;1771528 A008Y08;D17S1666;RH91727 C17orf79;COPR5;FLJ21119;HSA272196;TTP1 OTTHUMP00000163705;OTTHUMP00000163706;cooperator of PRMT5;coordinator of PRMT5 and differentiation stimulator APPROVED protein-coding ENSG00000172301 HGNC:28848 13675 VALIDATED 1353959 COPS2 COP9 signalosome subunit 2 ENCODES a protein that exhibits transcription corepressor activity (inferred); INVOLVED IN cullin deneddylation; FOUND IN COP9 signalosome; cytoplasm; INTERACTS WITH cobalt dichloride; copper(2+) sulfate; coumestrol 15 15 15 q21.2 26311045 26341430 - 49417471 49447854 - 49125274 49155657 - 6480464 10087198;10207062;10585392;10713076;10877839;10903862;10931946;10991940;11114242;11285227;11337588;11967155;12220626;12466024;12477932;12522100;12615944;12628923;12732143;14647295;15062575;15146197;15173382;15304329;15489334;16036220;16045761;16260596;16344560;16503656;16624822;16949367;16964240;17318178;17339334;17353931;17356171;17438371;17570542;17929852;17968325;18029348;18173839;18174916;18606781;18850735;19141280;19268428;19295130;19535905;19615732;20360068;20399188;21139048;21145461;21890473;21903422;21906983;21963094;21987572;22013077;22190034;22268729;22414063;22505724;22767593;22863883;22939629;22952844;23000965;23275442;23408908;23441852;23658844;24421388;24816145;25043011;7776974;8125298;8889548;9535219;9707402 9318 B4DIH5;H0YKU5;H0YM03;H0YMC2;P61201;Q59EL2 AB209799;ABBA01039130;AC013452;AF084260;AF100762;AF120268;AF212227;AK222590;AK295598;AK312643;AMYH02030392;BC012629;BM667648;BX648602;CH471082;CN281648;CN287009;CR542063;DB059510;L40388;NM_001143887;NM_004236 AAC34122;AAC41734;AAD30269;AAD43026;AAH12629;AAK26250;ABZ92273;ACE86472;ACE87153;BAD93036;BAD96310;BAG35527;BAG58487;CAG46860;EAW77364;EAW77365;EAW77366;NP_001137359;NP_004227;P61201 Hs.369614 1738955;2121249;2155120;2160644;5094562 Bdac5a05;D15S856;RH48647;TRIP15_3929;WI-15995 CSN2;SGN2;TRIP-15;TRIP15 ALIEN;COP9 constitutive photomorphogenic homolog subunit 2;COP9 signalosome complex subunit 2;JAB1-containing signalosome subunit 2;TR-interacting protein 15;alien homolog;signalosome subunit 2;thyroid receptor interacting protein 15;thyroid receptor-interacting protein 15 APPROVED protein-coding HGNC:30747 05146 604508 VALIDATED 1321125 COPS5 COP9 signalosome subunit 5 The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008] 8 8 8 q13.1 63948870 63967877 - 67955314 67974562 - 67043079 67062327 - 6480464;6484113;8554872 10086358;10362352;10722692;10766246;10903862;11089976;11285227;11337588;11704659;11707426;11709497;11812799;11818334;12032852;12082530;12119282;12183637;12220626;12477932;12615944;12628923;12702588;12732143;12860294;14500717;14500725;14647295;14666612;14702039;14707456;14719054;14732868;14737182;14993265;15082527;15126503;15154004;15231748;15234121;15304329;15353483;15480426;15489334;15604093;15671554;15688030;15757663;15887118;15899841;15994944;16000397;16036220;16045761;16122907;16187115;16260596;16300740;16410250;16483597;16503656;16624822;16713569;16861300;16882664;16936264;16949367;16951171;16964240;17027978;17050680;17052710;17079684;17133595;17350042;17403899;17429597;17583730;17623298;17879958;17914096;17951406;18006276;18029348;18173839;18199546;18246048;18246793;18285702;18346358;18476592;18534028;18593980;18606781;18624398;18667426;18850735;19139918;19141280;19214193;19246649;19268428;19295130;19349901;19400951;19444310;19461157;19576224;19615732;19656241;19826004;20034471;20093369;20360068;20399188;20589433;20698225;20890423;20936779;20978819;21139048;21145461;21249194;21254166;21382349;21466889;21499297;21510940;21625211;21689417;21832049;21837501;21890473;21903097;21903422;21906983;21935931;21963094;21988832;22013077;22103747;22190034;22268729;22311264;22350412;22414063;22474075;22505724;22609399;22668871;22675932;22767593;22779921;22797071;22863883;22867945;22911848;22939629;22959436;22990118;23080069;23086934;23275442;23288897;23357576;23408908;23555860;23583719;23636414;23658844;23689509;23776465;23911788;23926101;23926111;24043623;24049181;24078030;24170542;24421388;24654937;24671224;24816145;24882689;25043011;8837781;9341143;9535219;9707402 10987 E5RFS1;E5RG35;E5RHF2;E5RHH5;E5RK55;Q92905 AA203444;AB209134;ABBA01041887;ABBA01041888;AC109335;AC110998;AK056967;AK128519;AK310434;AK311071;AMYH02018120;AMYH02018121;BC001187;BC001859;BC007272;BI752436;BX648542;CH471068;CR541678;HC062374;NM_006837;U65928;U70734 AAB16847;AAD03468;AAH01187;AAH01859;AAH07272;ADZ15656;BAD92371;CAG46479;CAH10375;CBH51784;EAW86928;EAW86929;EAW86930;EAW86931;NP_006828;Q92905 Hs.491912 2160870;5015621;5020948;5022578;5109281 D11S3732;D1S1423;D1S1425;G35510;GDB:314409 CSN5;JAB1;MGC3149;MOV-34;SGN5 38 kDa Mov34 homolog;COP9 constitutive photomorphogenic homolog subunit 5;COP9 signalosome complex subunit 5;OTTHUMP00000226972;jun activation domain-binding protein 1;signalosome subunit 5 APPROVED protein-coding ENSG00000121022 HGNC:2240 06888 604850 REVIEWED 7254218 COPS8P1 COP9 signalosome subunit 8 pseudogene 1 X X X q21.2 86293355 86293980 - 86053604 86054229 - 86798601 86799226 - 260342 ABBA01051816;AL390058;AMYH02039911;NG_002325;NG_012817 BA345E19.2 pseudo HGNC:45269 INFERRED 1350505 COPS3 COP9 signalosome subunit 3 The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 17 17 17 p11.2 18089725 18124196 - 17149938 17184617 - 17246624 17281303 - 1580863;6480464 10191102;10766246;10903862;11114242;11285227;11337588;11418127;11967155;11997338;12220626;12477932;12508107;12615944;12620389;12628923;12665801;12732143;12917637;14647295;15325100;15342556;15489334;15588942;15861129;16036220;16045761;16196087;16260596;16503656;16624822;16949367;16964240;17079684;17207965;17353931;17429597;17452440;17609381;18029348;18606781;18781797;18850735;19141280;19295130;19576224;19596686;19615732;19656241;20360068;20399188;20639865;21139048;21145461;21436869;21890473;21906983;21963094;21987572;22032989;22053931;22190034;22237956;22268729;22414063;22505724;22767593;22863883;22939629;23000965;23213463;23275442;23383273;23636414;23658844;23667531;23818606;24421388;25043011;9535219;9707402 8533 C9JLV5;H7C3P9;J3KTQ1;J3QKR0;J3QL22;J3QS85;K7EJF9;K7ELN6;K7ES36;Q9UNS2 ABBA01009764;ABBA01009765;ABBA01009766;AC055811;AF031647;AF098109;AK297706;AK302304;AK312476;AK316400;AMYH02033088;BC001891;BP260214;BQ018146;BU952436;CH471196;NM_001199125;NM_003653;XM_005256837;XM_005256838;XM_005256839;XM_005256840;XM_005256841;XM_005256842 AAC14197;AAD41247;AAH01891;ADQ31729;BAG35380;BAG60063;BAG63643;BAH14771;EAW55711;EAW55712;EAW55713;NP_001186054;NP_003644;Q9UNS2;XP_005256894;XP_005256895;XP_005256896;XP_005256897;XP_005256898;XP_005256899 Hs.6076 1673360;1729962;1734530;2136568;2217182;7184642;7184718 COPS3_2756;D17S1462E;D17S1925;D17S71;STS-W80395 CSN3;SGN3 COP9 complex subunit 3;COP9 constitutive photomorphogenic homolog subunit 3;COP9 signalosome complex subunit 3;JAB1-containing signalosome subunit 3;OTTHUMP00000065517;signalosome subunit 3 APPROVED protein-coding ENSG00000141030 HGNC:2239 07262 604665 REVIEWED 7256207 COPS8P2 COP9 signalosome subunit 8 pseudogene 2 3 3 3 p14.1 68135641 68136422 + 68194142 68194923 + 68144992 68145773 + 375350 ABBA01030889;ABBA01030890;AC092416;AMYH02007002;NG_003103 1684772;2142009 RH65216;STS-W37517 pseudo HGNC:45270 INFERRED 1320520 COPS6 COP9 signalosome subunit 6 The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 94421242 94424482 + 99686583 99689823 + 100088960 100092200 + 737633;6480464;8554872 12477932 10903862;10958988;11244567;11285227;11337588;11531413;1222062;12220626;12237292;12446680;12615944;12628923;12690205;12732143;14647295;14667819;15383276;15489334;15757663;15832179;16036220;16045761;16169070;16260596;16503656;16949367;16964240;17079684;17337451;17403899;18029348;18060501;18606781;18850735;19141280;19295130;19615732;20360068;20399188;21139048;21145461;21317535;21555518;21625211;21890473;21900206;21903422;21906983;21963094;21988832;22032989;22053931;22190034;22268729;22414063;22474075;22505724;22767593;22863883;22939629;23086934;23187808;23275442;23658844;24421388;24654937;25043011;7474080;7474100;7494303;7666531;8195203;9094673;9341143;9520381;9535219;9707402 10980 C9JQK5;E7EM64;H7C3T0;Q7L5N1 ABBA01013238;AC073842;AK295237;AK312024;AMYH02016371;BC002520;BI113801;CB990467;CD367717;CH236956;CH471091;HB886687;HC944096;NM_006833;U70735 AAD03469;AAH02520;ABM82869;ABM85853;BAG34961;BAG58230;CBF67503;CBU92376;EAL23857;EAW76601;EAW76602;NP_006824;Q7L5N1 Hs.15591 1653297 WI-11428 CSN6;H_NH0506M12.12;MOV34-34KD;SGN6;hVIP COP9 constitutive photomorphogenic homolog subunit 6;COP9 signalosome complex subunit 6;COP9 subunit 6 (MOV34 homolog, 34 kD);JAB1-containing signalosome subunit 6;MOV34 homolog, 34 kD;OTTHUMP00000206324;OTTHUMP00000206384;signalosome subunit 6;vpr-interacting protein APPROVED protein-coding ENSG00000168090 HGNC:21749 16735 614729 REVIEWED 1322849 COPS8 COP9 signalosome subunit 8 The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 231707494 231720899 + 237993870 238007489 + 237085441 237098846 + 6480464 10585392;10903862;10991940;11032325;11285227;11337588;11567875;11967155;12220626;12324474;12466024;12477932;12615944;12628923;12732143;14647295;15304329;15489334;16036220;16045761;16260596;16964240;17079684;17207965;17318178;17350042;17403899;17609381;18029348;18173839;18424433;18606781;18850735;19056867;19141280;19295130;19576224;19615732;20399188;21139048;21145461;21890473;21906983;22190034;22268729;22388932;22414063;22505724;22767593;22863883;22939629;22959436;22992343;23086934;23213463;23275442;23636414;23658844;23689509;24421388;25043011;7634324;8689678;8889549;9535219;9707402 10920 E9PGT6;F8WEF2;H7C3S9;Q99627 AA004869;ABBA01042581;AC105760;AI077560;AI690743;AK289891;AK294078;AK308962;AK313437;AL038738;AMYH02006060;BC003090;BC036499;BC080617;BF979628;BG721393;BQ716842;CH471063;CR456994;NM_006710;NM_198189;U51205 AAB38529;AAH03090;AAH36499;AAH80617;AAY14978;ADQ33162;BAF82580;BAG36228;BAG57420;CAG33275;EAW71097;EAW71098;EAW71099;EAW71100;NP_006701;NP_937832;Q99627 Hs.531713 1652700;1666468;1684772;1704136;1852448;2142009 D2S1655E;RH11779;RH65216;SGC31839;SHGC-79756;STS-W37517 COP9;CSN8;MGC1297;MGC43256;SGN8;hCOP9 COP9 constitutive photomorphogenic homolog subunit 8;COP9 homolog;COP9 signalosome complex subunit 8;JAB1-containing signalosome subunit 8;OTTHUMP00000164415;OTTHUMP00000202909;OTTHUMP00000202910;OTTHUMP00000202913;signalosome subunit 8 APPROVED protein-coding HGNC:24335 16737 616011 REVIEWED 1320761 COPS7A COP9 signalosome subunit 7A This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014] 12 12 12 p13.31 8450370 8458265 + 6833150 6841041 + 6723984 6731875 + 6480464 10903862;11285227;11337588;12020345;12220626;12477932;12615944;12628923;12732143;14647295;14702039;15489334;15502821;16036220;16169070;16260596;16344560;16503656;16949367;16964240;17079684;17350042;17403899;17429597;18029348;18606781;18850735;18926707;19141280;19295130;19596235;19615732;19656241;20360068;21139048;21145461;21906983;21963094;22268729;22797925;22863883;22939629;22952844;23086934;23213463;23383273;23658844;24421388;24816145;25043011;9535219;9707402 50813 F5GXT7;F5GYF7;F5H248;F5H3M6;F5H4U8;F5H4Z0;F5H7C6;G3XAP1;Q567U8;Q9UBW8 AB014764;AB033603;ABBA01017652;ABBA01017653;AC125494;AF193844;AF210052;AK001318;AK021721;AK022488;AK128792;AK292621;AMYH02025954;AX879181;AX881540;BC011789;BC093015;BQ008460;CH471116;DA043679;DA365275;DC355036;HY087807;NG_034023;NM_001164093;NM_001164094;NM_001164095;NM_016319;XM_005253694;XM_005253695 AAF04307;AAF19205;AAH11789;AAH93015;ABM83820;ABM87140;BAA85390;BAA91620;BAB14052;BAB87805;BAF85310;BAG51042;BAG54737;CAE90397;CAE91308;EAW88745;EAW88746;EAW88747;EAW88748;EAW88749;NP_001157565;NP_001157566;NP_001157567;NP_057403;Q9UBW8;XP_005253751;XP_005253752 Hs.530823 1849424;2149545 RH11165;WI-8013 CSN7;CSN7A;MGC110877;SGN7a COP9 complex subunit 7a;COP9 constitutive photomorphogenic homolog subunit 7A;COP9 signalosome complex subunit 7a;JAB1-containing signalosome subunit 7a;OTTHUMP00000240328;OTTHUMP00000240329;OTTHUMP00000240332;OTTHUMP00000240333;OTTHUMP00000240335;OTTHUMP00000240342;OTTHUMP00000240344;OTTHUMP00000240345;dermal papilla-derived protein 10;signalosome subunit 7a APPROVED protein-coding ENSG00000111652 HGNC:16758 16736 616009 REVIEWED 1315805 COPS7B COP9 signalosome subunit 7B INVOLVED IN cullin deneddylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN COP9 signalosome; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); paracetamol (ortholog) 2 2 2 q37.1 226427678 226449946 + 232646388 232673958 + 231781671 231809254 + 1580863;6480464;8554872 11285227;11337588;12020345;12220626;12477932;12628923;12732143;14702039;15489334;16344560;16624822;16949367;16964240;17079684;18029348;18391951;18606781;18850735;19141280;19295130;19322201;19615732;20360068;20399188;21139048;21145461;21832049;21890473;21906983;21963094;22053931;22268729;22414063;22505724;22863883;22939629;23275442;23658844;8125298;9707402 64708 J3KQ34;J3KQ41;J3KQV6;J3QT43;J3QT50;J3QT65;J3QT66;J3QT67;J3QT69;J3QT73;J3QT95;Q9H9Q2 ABBA01002038;ABBA01002039;AC073476;AK022674;AK024273;AK098334;AK124133;AK126326;AK222879;AK307486;AMYH02005976;AX883803;BC010739;BC091493;BE501968;BI906506;CH471063;DA754035;HY051259;NM_001282949;NM_001282950;NM_001282951;NM_001282952;NM_022730;XM_006712692;XM_006712693 AAH10739;AAH91493;AAY24152;BAB14170;BAB14868;BAC86526;BAD96599;BAG53614;BAG54013;CAE92117;EAW70979;EAW70980;EAW70981;EAW70982;NP_001269878;NP_001269879;NP_001269880;NP_001269881;NP_073567;Q9H9Q2;XP_006712755;XP_006712756 Hs.335061;Hs.611663 1749405;1795614;2113926;2143046;2161397;5014051;5015619;5037552 AB060239;COPS7B_1453;D11S3114;D8S2278;D8S2279;RH45929;RH47930;SHGC-111146 CSN7B;FLJ12612;MGC111077;SGN7b COP9 constitutive photomorphogenic homolog subunit 7B;COP9 signalosome complex subunit 7b;JAB1-containing signalosome subunit 7b;OTTHUMP00000164300;OTTHUMP00000164301;OTTHUMP00000204226;OTTHUMP00000204231;OTTHUMP00000204232;OTTHUMP00000204237;signalosome subunit 7b APPROVED protein-coding ENSG00000144524 HGNC:16760 09889 616010 VALIDATED 1602309 COQ10A coenzyme Q10 homolog A (S. cerevisiae) FOUND IN mitochondrial inner membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene; carbonyl cyanide p-trifluoromethoxyphenylhydrazone 12 12 12 q13.3 56313423 56317531 + 56660642 56664750 + 56266858 56270966 + 6480464 12477932;12975309;14702039;15489334;16344560;19891963;20467438;20877624;21458815;21640350;22645453;23494902 93058 H0YHF1;H0YHW3;Q96MF6 ABBA01008416;AC073896;AK057003;AK057014;AMYH02026564;AY358861;BC002435;BC026922;BC047444;BC073923;CH471054;CS300593;DB271789;NM_001099337;NM_144576 AAH02435;AAH26922;AAH47444;AAH73923;AAQ89220;BAB71339;BAB71344;CAK32257;EAW96920;EAW96921;EAW96922;NP_001092807;NP_653177;Q96MF6 Hs.4096 1655070;1662181;1668732;2136690 RH44687;RH44719;SHGC-33516;SHGC-33682 FLJ32452 OTTHUMP00000243417;OTTHUMP00000243418;OTTHUMP00000243419;OTTHUMP00000244001;coenzyme Q-binding protein COQ10 homolog A, mitochondrial protein-coding ENSG00000135469 HGNC:26515 08726 VALIDATED 1315851 COPZ2 coatomer protein complex, subunit zeta 2 This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014] 17 17 17 q21.32 42556353 42567971 - 46103533 46120908 - 48026167 48037790 - 1580863;6480464 10921873;10982407;11056392;12477932;14729954;15489334;19167404;21746916;22949513;8940050 51226 J3KRJ9;J3QL73;J3QLS7;J3QQQ5;J3QS21;Q9P299 AB037938;AB047849;ABBA01041151;AC004477;AEKP01094114;AMYH02033532;BC015924;BQ002984;BQ576336;CH471109;HY179834;NM_016429 AAH15924;ABM83979;ABM87300;BAA90670;BAB17660;EAW94769;NP_057513;Q9P299 Hs.408434 1677756;2110329 COPZ2_9687;RH93052 MGC23008 coatomer subunit zeta-2;nonclathrin coat protein zeta-COP;zeta-2 COP;zeta-2 coat protein;zeta-2-coat protein;zeta2-COP APPROVED protein-coding ENSG00000005243 HGNC:19356 16739 615526 REVIEWED 1603662 COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009] 4 4 4 q21.23 81475423 81496467 - 84184972 84206067 - 83261487 83284914 - 6480464;6907045;7240710;8554872;8699517 10737800;12477932;14702039;15153069;15489334;15905035;16400613;16643834;16873928;17332895;17374725;17376224;17510911;17855635;18230681;19096106;20301317;20507940;20877624;21890473;21906983;22490322;23343605;23758206;24250222;24262183 27235 E2QRG7;E7EPM7;H0YAI0;Q96H96 ABBA01063462;ABBA01063463;AC114781;AF091086;AJ621061;AK023076;AK129583;AK300972;AMYH02009617;BC008804;BC020728;BC116454;BG699931;BM126596;BQ363759;CH471057;CR456860;NG_015825;NM_015697;XM_005262926;XM_005262927;XM_006714182;XR_427543;XR_427544 AAC72955;AAH08804;AAH20728;AAI16455;ABM86854;ABW03831;BAG62595;CAF18241;CAG33141;EAX05927;EAX05928;EAX05929;EAX05930;NP_056512;Q96H96;XP_005262983;XP_005262984;XP_006714245 Hs.144304;Hs.729069 2144865 STS-N34312 CL640;COQ10D1;FLJ13014;FLJ26072;MSA1;hCOQ2 4-hydroxybenzoate polyprenyltransferase;4-hydroxybenzoate polyprenyltransferase, mitochondrial;COQ2 homolog;OTTHUMP00000219346;OTTHUMP00000219805;OTTHUMP00000219806;OTTHUMP00000219807;PHB:polyprenyltransferase;coenzyme Q2 homolog, prenyltransferase;para-hydroxybenzoate--polyprenyltransferase;para-hydroxybenzoate--polyprenyltransferase, mitochondrial;para-hydroxybenzoate-polyprenyltransferase, mitochondrial APPROVED protein-coding ENSG00000173085 HGNC:25223 13062 146500;607426;609825 REVIEWED 1604595 COQ10B coenzyme Q10 homolog B (S. cerevisiae) FOUND IN mitochondrial inner membrane (inferred); INTERACTS WITH aflatoxin B1; cobalt dichloride; copper atom 2 2 2 q33.1 192074111 192095724 + 198318231 198339851 + 197453507 197475296 + 6480464 12477932;14702039;15489334;17207965;19322201;20877624;21890473;24250222 80219 B7Z1Y4;B8ZZV9;B8ZZX2;Q9H8M1 ABBA01062477;ABBA01062478;ABBA01062479;AC010746;AK023510;AK294093;AK308977;AMYH02005521;AMYH02005522;BC022453;CH471063;NM_025147;XM_006712776 AAH22453;ADQ32649;BAB14593;BAH11670;EAW70147;NP_079423;Q9H8M1;XP_006712839 Hs.606592 FLJ13448 OTTHUMP00000163623;OTTHUMP00000205703;OTTHUMP00000205704;coenzyme Q-binding protein COQ10 homolog B, mitochondrial protein-coding ENSG00000115520 HGNC:25819 08582 PROVISIONAL 7204939 COQ10BP1 coenzyme Q10 homolog B pseudogene 1 10 10 10 24649678 24650266 - 24949332 24949920 - 24660403 24660991 - 100421150 ABBA01034447;AL392104;AMYH02022475;AMYH02022476;NG_025419 pseudo HGNC:44912 INFERRED 7204941 COQ10BP2 coenzyme Q10 homolog B pseudogene 2 5 5 5 78480792 78481515 - 82575739 82576462 - 83279920 83280643 - 100421072 ABBA01062084;AC034211;AMYH02011711;NG_024606 pseudo HGNC:44913 INFERRED 1314607 COPZ1 coatomer protein complex, subunit zeta 1 This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 12 12 12 q13.2-q13.3 54370906 54397483 + 54718874 54745635 + 54325090 54351851 + 6480464;8554872 10810093;11030615;11031247;11042152;11056392;12477932;12893528;14729954;15489334;16344560;16712791;16956762;17207965;17360540;18356299;18781797;19167404;20360068;21139048;21746916;21832049;21890473;21906983;21963094;22053931;22139419;22505724;22863883;22939629;23000965;23125841;23263863;23824909;24026423;25036637;8125298;8276893;8533093;8599108;8858162;9472029;9482852;9751720 22818 F8VUC5;F8VVA7;F8VXB1;F8VXR1;F8VYE0;F8VYK5;F8VYZ4;F8W156;F8W651;P61923 AB047848;ABBA01008370;ABBA01008371;AC078778;AF086911;AF151878;AF161529;AK025956;AK026190;AK223188;AK293377;AK295325;AK311027;AMYH02026534;AMYH02026535;BC002849;CA431603;CB127540;CH471054;DA562746;NM_001271734;NM_001271735;NM_001271736;NM_016057;NR_073424 AAD34115;AAF29144;AAH02849;AAP97141;ADQ32844;BAB17659;BAD96908;BAG56889;BAG58302;EAW96774;EAW96775;NP_001258663;NP_001258664;NP_001258665;NP_057141;P61923 Hs.505652 1662603;1684858;1774401;2145636;2147512;2170589;2179975;2218412 A002C47;Bdya3g12;COPZ1_4616;D12S1927;G19978;NIB1371;RH78595;WI-12593 CGI-120;COPZ;HSPC181;zeta-COP;zeta1-COP OTTHUMP00000242018;OTTHUMP00000242019;OTTHUMP00000242021;OTTHUMP00000242022;OTTHUMP00000242023;OTTHUMP00000242025;OTTHUMP00000242026;OTTHUMP00000242244;coatomer subunit zeta-1;zeta-1 COP;zeta-1-coat protein protein-coding ENSG00000111481 HGNC:2243 16738 615472 REVIEWED 732708 COQ3 coenzyme Q3 methyltransferase Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008] 6 6 6 q16.2 100461523 100486230 - 99817279 99842082 - 99369401 99394206 - 1580863;6480464;6907045;8554872 10777520;11230166;12477932;14702039;15489334;16712791;17207965;19161160;20877624;24250222 51805 Q5T063;Q9NZJ6 ABBA01014483;AF193016;AF351615;AK056955;AL136726;AL513550;AMYH02014182;BC001534;BC015634;BC063463;CB128192;CH471051;NM_017421;XM_005267018;XM_006715500;XM_006715501 AAF66826;AAH15634;AAH63463;AAN76515;ADQ32547;BAG51832;CAB66660;EAW48482;NP_059117;Q9NZJ6;XP_005267075;XP_006715563;XP_006715564 Hs.713623 1690354 RH92984 DHHBMT;UG0215E05;bA9819.1 2-polyprenyl-6-hydroxyphenol methylase;2-polyprenyl-6-hydroxyphenyl methylase;3,4-dihydroxy-5-hexaprenylbenzoate methyltransferase;3-demethylubiquinone-10 3-methyltransferase;DHHB methyltransferase;DHHB-MT;DHHB-MTase;DHHBMTASE;OTTHUMP00000016892;coenzyme Q3 homolog, methyltransferase;dihydroxyhexaprenylbenzoate methyltransferase;hexaprenyldihydroxybenzoate methyltransferase, mitochondrial;methyltransferase COQ3;polyprenyldihydroxybenzoate methyltransferase APPROVED protein-coding ENSG00000132423 HGNC:18175 07283 605196 VALIDATED 737189 COQ7 coenzyme Q7 homolog, ubiquinone (yeast) The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010] 16 16 16 p12.3 18226796 18239311 + 19078917 19091417 + 19067595 19080095 + 1580863;2313649;6480464;6907045;8554872 17130255 10373325;10373327;10501970;11076863;11230166;11256614;11435415;11511092;11749961;12477932;14702039;15489336;16381901;18927074;19135146;20800603;20877624;21890473;8125298;9020081;9452453 10229 H3BP28;H3BS11;H3BSZ3;H3BTN8;I3L1T0;Q99807 ABBA01028256;AC099518;AF032900;AF098948;AF374413;AI279093;AI424412;AK024291;AK225115;AK315470;AL136647;AMYH02031635;BC003185;BC043272;CH471186;NM_001190983;NM_016138;U81276;XM_005255033 AAC51120;AAC69451;AAD43648;AAH03185;AAH43272;AAM21346;BAB14876;BAG37856;CAB66582;CAL37929;CAL38398;EAW50268;EAW50269;EAW50270;EAW50271;NP_001177912;NP_057222;Q99807;XP_005255090 Hs.157113 1669383;1685459;1776653;1857666;1857668;2218414;5015861;5016352;5037552;5491786;7185938 COQ7;COQ7_4618;D10S16;D16S3009;D8S2279;L30021;RH92994;SHGC-60852;SHGC-61129;SHGC-61450 CAT5;CLK-1;CLK1 COQ7 coenzyme Q, 7 homolog ubiquinone;OTTHUMP00000162157;coenzyme Q biosynthesis protein 7 homolog;placental protein KG-20;timing protein clk-1 homolog;ubiquinone biosynthesis protein COQ7 homolog APPROVED protein-coding ENSG00000167186 HGNC:2244 03401 601683 REVIEWED 1347529 CORD1 cone rod dystrophy 1 (autosomal dominant) ASSOCIATED WITH Cone-Rod Dystrophy 1 (inferred) 7240710 1867279 1319 HGNC:2245 600624 1345844 CORD5 cone rod dystrophy 5 ASSOCIATED WITH Cone-Rod Dystrophy 5 (inferred) 7240710 8586428 1322 HGNC:2248 600977 1322454 COQ6 coenzyme Q6 monooxygenase The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012] 14 14 14 q24.3 54453591 54466758 + 74416637 74429815 + 73949934 73963112 + 1580863;6480464;6907045;8699517;7240710;8554872 10810093;11256614;12477932;15489334;16169070;20877624;21110914;21319273;21540551;21832049;21890473;24654937;8125298 51004 B7Z357;G3V2L5;G3V3A1;G3V3L0;G3V434;G3V4A6;G3XA86;Q9Y2Z9 ABBA01030739;ABBA01030740;AC005480;AF132944;AK130167;AK222965;AK294370;AK295517;AK296040;AK296386;AK303304;AK303350;AK307306;AK316356;AL521052;AL557147;AMYH02029502;AMYH02029503;BC014181;BC014483;BX248000;BX342249;BX648434;CH471061;HC890003;NG_032805;NM_182476;NM_182480;XM_005267716;XM_005267718;XM_005267719;XM_005267720;XM_006720156;XR_429317 AAD27719;AAH14181;AAH14483;ABM83561;ABM86799;BAD96685;BAH11748;BAH12093;BAH12244;BAH12338;BAH13935;BAH13947;BAH14727;CAD62332;CBN59492;EAW81146;EAW81147;EAW81148;NP_872282;NP_872286;Q9Y2Z9;XP_005267773;XP_005267775;XP_005267776;XP_005267777;XP_006720219 Hs.131555 1655211;1690890;2127744;2182893;2187010;5014019 D5S2354;RH70168;RH91551;SGC34610;SHGC-30190;STS-W86375 CGI-10;CGI10;COQ10D6;FLJ51173;FLJ53037;FLJ58904;FLJ79255 OTTHUMP00000245618;OTTHUMP00000245620;coenzyme Q10 monooxygenase 6;coenzyme Q6 homolog, monooxygenase;coenzyme q6 homolog (yeast);ubiquinone biosynthesis monooxygenase COQ6 APPROVED protein-coding ENSG00000119723 HGNC:20233 16742 614647;614650 REVIEWED 1352709 CORD7 cone rod dystrophy 7 ASSOCIATED WITH Cone-Rod Dystrophy 7 (inferred) 7240710 9634506 1324 HGNC:2250 603649 1347512 CORD8 cone rod dystrophy 8 ASSOCIATED WITH Cone-Rod Dystrophy 8 (inferred) 7240710 54109 1340905 D1S2635 HGNC:2251 605549 1342626 CORD4 cone rod dystrophy 4 8508343 1321 HGNC:2247 1350915 CORD9 cone rod dystrophy 9 ASSOCIATED WITH CONE-ROD DYSTROPHY 9 (inferred) 7240710 60424 HGNC:15969 612775 1604266 COQ5 coenzyme Q5 homolog, methyltransferase (S. cerevisiae) ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); small molecule metabolic process (inferred); ubiquinone biosynthetic process (inferred); PARTICIPATES IN ubiquinone biosynthetic pathway; FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; carbonyl cyanide p-trifluoromethoxyphenylhydrazone 12 12 12 q24.31 120575175 120601278 - 120941082 120966964 - 120503279 120529161 - 6480464;6907045 12477932;14702039;15342556;15489334;20877624;21890473;23028342;23354120;25152161;8125298 84274 B4DP72;F8VP53;F8VVD5;F8VVW7;F8VVX6;Q5HYK3 ABBA01020124;ABBA01020125;ABBA01020126;ABBA01020127;ABBA01020128;AC063943;AK057777;AK222610;AK225242;AK293656;AK298214;AK315681;AMYH02027375;BC004916;BC107874;BP307378;BX647562;CH471054;EU700459;NM_032314;XM_006719639 AAH04916;AAI07875;ACD75052;BAB71567;BAD96330;BAG38046;BAG57105;BAG60484;CAI46073;EAW98198;EAW98199;NP_115690;Q5HYK3;XP_006719702 Hs.17250 1725685;1739805;2132407;2180495 D12S1527;G62046;RH44487;SHGC-64326 MGC104303;MGC4767 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase;2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial;OTTHUMP00000240946;OTTHUMP00000240947;OTTHUMP00000240964;ubiquinone biosynthesis methyltransferase COQ5;ubiquinone biosynthesis methyltransferase COQ5, mitochondrial protein-coding ENSG00000110871 HGNC:28722 17560 VALIDATED 1603980 COQ9 coenzyme Q9 This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010] 16 16 16 q21 41982201 41996039 + 57481337 57495187 + 57447425 57461275 + 6480464;8699517;7240710;8554872 10493829;11042152;11230166;12477932;15489334;16169070;16303743;17207965;19375058;20301317;20877624;24816145;8889548 57017 H3BNT2;H3BPC6;H3BPW3;H3BPY0;H3BRC0;H3BSJ5;H3BVA5;O75208 ABBA01025272;AC004382;AC009052;AF161444;AK075438;AK290627;AK293585;AK295793;AK303527;AL136884;AMYH02032109;BC001478;BC029341;BC054340;BC064946;BM680448;BM712215;BM717991;CH471092;DB513313;DB562540;NG_027696;NM_020312 AAC24313;AAF29004;AAH01478;AAH54340;AAH64946;ACE86989;ACE87678;ADQ32578;BAC11621;BAF83316;BAG57054;BAG58614;BAG64555;CAB66818;EAW82928;EAW82931;NP_064708;O75208 Hs.513632 1683657;2121557;2134463;2158892 Bdac5g11;RH69662;RH78523;SHGC-61053 C16orf49;COQ10D5;DKFZp434K046 coenzyme Q9 homolog;ubiquinone biosynthesis protein COQ9, mitochondrial APPROVED protein-coding ENSG00000088682 HGNC:25302 13157 612837;614654 REVIEWED 1343750 CORIN corin, serine peptidase This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 4 4 4 p13-p12 48045262 48288937 - 47596015 47840395 - 47593998 47838106 - 1581217;1581218;1581219;1580863;1626338;6480464;8699517;7240710;8554872 15155264;15191894;16216958;17485366 10329693;10880574;11082206;11884416;12154094;12477932;14559895;15192093;15489334;17296875;17660514;17890485;18669922;19326473;19460752;19913121;19919978;20613715;20628086;20670840;20802129;21216831;21288900;21518754;22093942;22437503;22987923;23327554;23372161;23434834;24015598;24100222;24828501 10699 B4E1Y7;B4E2W9;E7EQE7;J3KR83;J3KR88;J3KR90;Q9Y5Q5 ABBA01014337;AC092597;AC104646;AC107068;AF113248;AF133845;AF521006;AI338960;AI378383;AI872582;AK297675;AK302816;AK304038;AK304466;AMYH02009161;BC110451;BX648285;CH471069;EU326305;NG_032679;NM_001278585;NM_001278586;NM_006587 AAD31850;AAF21966;AAI10452;AAN40016;AAY40917;AAY40991;ACA05911;BAG64015;BAG64949;BAG65281;BAH12647;EAW93038;EAW93039;NP_001265514;NP_001265515;NP_006578;Q9Y5Q5 Hs.518618;Hs.604887 1693746;1695886;1696080;1696170;1715475;2117260;5037552 D4S2706;D8S2279;RH120903;SHGC-58819;SHGC-78843;SHGC-79109;SHGC-79160 ATC2;CRN;Lrp4;MGC119742;PEE5;TMPRSS10 OTTHUMP00000125293;OTTHUMP00000218702;OTTHUMP00000218703;OTTHUMP00000218704;OTTHUMP00000218705;OTTHUMP00000218706;atrial natriuretic peptide-converting enzyme;atrial natriuteric peptide-converting enzyme;corin, serine protease;heart specific serine proteinase;heart-specific serine proteinase ATC2;pro-ANP-convertase;pro-ANP-converting enzyme;transmembrane protease serine 10 APPROVED protein-coding ENSG00000145244 HGNC:19012 05573 605236;614595 REVIEWED 1312192 COQ4 coenzyme Q4 Coenzyme Q (CoQ) is a small lipophilic molecule that transports electrons between mitochondrial respiratory chain complexes and functions as a cofactor for mitochondrial enzymes. COQ4 is an enzyme involved in CoQ biosynthesis (Casarin et al., 2008 [PubMed 18474229]).[supplied by OMIM, Aug 2009] 9 9 9 q34.11 101735695 101747255 + 131084791 131096351 + 128322512 128334072 + 1580863;6480464 10810093;11076863;11256614;11469793;12477932;15489334;15489336;16381901;18474229;20877624;21906983;22368301;23251661;25152161 51117 Q5T4B9;Q9Y3A0;V9GY32;V9GZ09 ABBA01043876;ABBA01043877;AF151850;AK025376;AK126646;AK301333;AK313650;AL359091;AMYH02021711;BC011895;BC036603;CH471090;CX787359;EU216419;EU216420;EU216421;EU216422;EU216423;HC894907;NM_016035 AAD34087;AAH11895;ABW91141;ABW91142;ABW91143;ABW91144;ABW91145;BAG36405;BAG62881;CAL37535;CBN61894;EAW87774;EAW87775;EAW87776;EAW87777;EAW87778;NP_057119;Q9Y3A0 Hs.98541 1697972;2161251;5014563;5015879;5020948;5022463;5022578;5022588;5022651;5037552 D11S2921;D1S1423;D3S1673;D5S1597E;D8S2279;G35510;GDB:314949;L17676;RH102515;WI-11577 CGI-92 OTTHUMP00000022262;coenzyme Q biosynthesis protein 4 homolog;coenzyme Q4 homolog;coenzyme q4 homolog (yeast);ubiquinone biosynthesis protein COQ4 homolog, mitochondrial APPROVED protein-coding ENSG00000167113 HGNC:19693 16741 612898 VALIDATED 736068 CORO1B coronin, actin binding protein, 1B Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008] 11 11 11 q13.2 64538716 64544461 - 67205518 67211371 - 67438047 67443821 - 1580863;6480464 12477932;15489334;16027158;16344560;17350576;17456547;18775315;19199708;19738201;21044950;21139048;21890473;21906983;21963094;21988832;22563075;22797925;22863883;22939629;23000965;23667531;23667561;24816145;9778037;9915840 57175 F5H0D2;F5H390;Q9BR76 ABBA01024033;AK000860;AK295782;AK309267;AK315399;AL162072;AMYH02024996;AP003419;BC006449;BI767141;CH471076;DA061767;NM_001018070;NM_020441 AAH06449;ABM84323;ABM87717;BAG37792;BAG58604;CAB82408;EAW74623;EAW74624;EAW74625;EAW74626;NP_001018080;NP_065174;Q9BR76 Hs.6191 5014587 RH35948 CORONIN-2;DKFZp762I166 OTTHUMP00000236823;coronin, actin-binding protein, 1B;coronin-1B APPROVED protein-coding ENSG00000172725 HGNC:2253 16743 609849 VALIDATED 732928 CORO1A coronin, actin binding protein, 1A This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010] 16 16 16 p11.2 72594500 72599971 - 30194731 30200397 + 30183410 30189076 + 1580863;6480464;6907045;8699517;7240710;8554872 10338208;10749676;11094157;12132654;12477932;12673016;1286667;14702039;15203218;15489334;15601263;15800061;16040207;16196087;16344560;16467882;17341475;17353931;17442961;18693254;18836449;19454722;19946888;21139048;21339362;21873980;21890473;21906983;21988832;22505724;23100250;23182705;23252456;23522482;23745754;24760828;24816145;25015289;7758584;9365277;9778037 11151 H3BNA2;H3BRJ0;H3BRY3;H3BSL1;H3BTU6;H3BU76;P31146 AB209221;ABBA01013099;AC012645;AC243947;AF495470;AK096332;AK097964;AK123401;AK296207;AK314714;BC110374;BC126385;BC126387;CD623635;CH471238;D44497;DA256300;DC408372;GQ214031;NG_023415;NM_001193333;NM_007074;U34690;X89109 AAA77058;AAI10375;AAI26386;AAI26388;AAM18516;ABZ92302;ADR83161;BAA07940;BAC85606;BAD92458;BAG37258;BAG58933;CAA61482;EAW79906;EAW79907;EAW79908;EAW79909;EAW79910;NP_001180262;NP_009005;P31146 Hs.415067 5016698 RH47208 CLABP;FLJ41407;HCORO1;IMD8;MGC117380;TACO;p57 CLIPINA;OTTHUMP00000163017;clipin-A;coronin, actin binding protein 1a;coronin, actin-binding protein, 1A;coronin, actin-binding, 1A;coronin-1;coronin-1A;coronin-like protein A;coronin-like protein p57;tryptophan aspartate-containing coat protein APPROVED protein-coding ENSG00000102879 HGNC:2252 05414 605000;615401 REVIEWED 1314425 CORO1C coronin, actin binding protein, 1C This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 12 12 12 q24.1 108708285 108794696 - 109038885 109125326 - 108645109 108731550 - 1580863;6480464;8554872 10461187;10828594;12377779;12477932;14702039;15489334;15592455;17207965;17274980;19322201;19380743;19423540;19615732;19651142;19738201;19913511;20360068;20406964;20438785;20678442;20690162;21080425;21139048;21890473;21906983;21963094;21988832;22505724;22797925;22863883;22939629;22974233;23000965;23182705;23246001;23292607;23398456;24255178;24816145;25027693;8125298;8175911;8889548;9778037 23603 B4E3S0;F8VRE9;F8VSA4;F8VTT6;F8VUX3;F8VV53;F8VVB7;F8W1H8;H0YHL7;Q9ULV4 AB030656;AB209909;ABBA01053127;ABBA01053128;ABBA01053129;ABBA01053130;AC007569;AK023205;AK096363;AK223073;AK297463;AK304839;AK311315;AK316065;AK316504;AL162070;AM849477;AM849478;AMYH02027156;BC002342;BM677390;CH471054;DB450956;NM_001105237;NM_001276471;NM_014325;Z24726 AAH02342;ADQ32418;BAA83077;BAD93146;BAD96793;BAG51168;BAG53274;BAG59885;BAG65582;BAH14436;BAH14875;CAB82406;CAO94662;CAO94663;EAW97826;EAW97827;EAW97828;EAW97829;NP_001098707;NP_001263400;NP_055140;Q9ULV4 Hs.330384 1340483;1674932;1718783;1753143;1774887;2143024 D9S1794;RH123095;SGC32397;SHGC-109998;STS-N68222;WI-20941 HCRNN4 OTTHUMP00000240966;OTTHUMP00000240967;OTTHUMP00000240968;OTTHUMP00000240970;coronin 1C;coronin, actin-binding protein, 1C;coronin-1C;coronin-3 APPROVED protein-coding ENSG00000110880 HGNC:2254 09244 605269 REVIEWED 1352370 CORO2B coronin, actin binding protein, 2B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 15 15 15 q23 45798327 45909300 + 68851614 69020145 + 68559275 68727806 + 1580863;6480464;8554872 10224093;10231032;12477932;15489334;16169070;16344560;19734545;20379614 10391 Q9UQ03 AB010098;AB023142;ABBA01038775;ABBA01038776;ABBA01038777;ABBA01038778;ABBA01038779;AC090259;AC090734;AC105014;AI871484;AK124711;AK289678;AMYH02030688;AMYH02030689;AMYH02030690;AMYH02030691;AMYH02030692;BC026335;BX461395;CH471082;DA128408;DA182763;DA219458;DA291058;KF456078;KF456088;NM_001190456;NM_001190457;NM_006091;XM_005254124;XM_005254125 AAH26335;ABM83020;ABM83285;ABM86492;BAA36341;BAA76769;BAF82367;BAG54076;EAW77822;EAW77823;NP_001177385;NP_001177386;NP_006082;Q9UQ03;XP_005254181;XP_005254182 Hs.551213 1665263;1687810;1849092;2108737;2119746;2176008 A007L06;CORO2B_9101;D15S1243;RH28501;RH48611;WI-13883 KIAA0925 CLIPINC;OTTHUMP00000164389;clipin C;clipin-C;coronin, actin-binding protein, 2B;coronin, actin-binding, 2B;coronin-2B;coronin-like protein C protein-coding ENSG00000103647 HGNC:2256 05416 605002 VALIDATED 1320210 CORO2A coronin, actin binding protein, 2A This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding proteins: the D. discoideum coronin and the human p57 protein, suggesting that this protein may also be an actin-binding protein that regulates cell motility. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 9 9 9 q22.3 71397550 71469269 - 100883257 100954956 - 98120975 98192674 - 1580863;6480464;8554872 10231032;12477932;12628926;14527417;15489334;16341674;19654210;20526340;21331046;23490283;24930734;8889548;8985118 7464 A8K9S3;Q92828 AB209809;ABBA01042918;ABBA01042919;AK292788;AL137073;AMYH02021318;AMYH02021319;BC000010;BC011690;BM822208;BM976925;BX648086;CH471105;DB459852;NM_003389;NM_052820;U57057;U57058 AAB47807;AAB47808;AAH00010;AAH11690;ABM82671;ABW03440;BAD93046;BAF85477;EAW58879;EAW58880;EAW58881;NP_003380;NP_438171;Q92828 Hs.113094 1644299;1758701;1786958;1847300;2144346;2169613;2169615;5015961;5020948;5037552 1620;A001T44;D15S1477;D8S2279;G19641;G35510;RH66408;SHGC-144244;SHGC-149194;SHGC-32963 DKFZp686G19226;IR10;WDR2 CLIPINB;OTTHUMP00000021767;OTTHUMP00000021768;WD protein IR10;WD repeat-containing protein 2;WD-repeat protein 2;coronin 2A;coronin, actin-binding protein, 2A;coronin-2A;coronin-like protein B APPROVED protein-coding ENSG00000106789 HGNC:2255 03695 602159 REVIEWED 6904359 CORO7-PAM16 CORO7-PAM16 readthrough This locus represents naturally occurring read-through transcription between the neighboring CORO7 (coronin 7) and PAM16 (presequence translocase-associated motor 16) genes on chromosome 16. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jan 2011] 16 16 p 4390252 4466962 - 4340251 4416961 - 6480464;8554872 12477932;20967262;21890473;21906983;22505724;23000965;24250222 100529144 I3L167;P57737 ABBA01026770;ABBA01026771;ABBA01026772;ABBA01026773;ABBA01026774;AC004789;AC012676;AL833954;AMYH02031323;BC032732;KF456150;NM_001201479 NP_001188408 Hs.437957 1334581;2150834 D6S1566;WI-11319 protein-coding ENSG00000103426 HGNC:44424 VALIDATED 1354094 CORO6 coronin 6 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q11.2 24802643 24809310 - 27941774 27949926 - 29614756 29622908 - 6480464;8554872 10737800;12477932;12665801;14702039;15489334;15498874;16625196;24816145 84940 B3KRY9;B3KSZ9;J3KSS5;J3QLV6;J3QRV4;J3QSC1;K7ERF4;Q6QEF8 ABBA01015012;AC104564;AF193039;AF447884;AF447885;AK027777;AK092430;AK094683;AK096431;AL833952;AMYH02033254;AY545070;BC028205;BC048209;BC064514;BF368858;BI758263;CH471159;NM_032854;XM_005258047;XM_005258048;XM_005258049;XM_005258051;XM_005258053;XM_005258054;XM_005258055;XM_005258056;XM_005258057;XR_429927 AAG22467;AAH64514;AAQ04659;AAQ04660;AAS48630;BAB55360;BAG52551;BAG52911;BAG53288;EAW51204;EAW51205;EAW51206;EAW51207;EAW51208;NP_116243;Q6QEF8;XP_005258104;XP_005258105;XP_005258106;XP_005258108;XP_005258110;XP_005258111;XP_005258112;XP_005258113;XP_005258114 Hs.143046 1680427;1734412;1736694;2174115 D17S1385E;D17S1512E;RH39421;RH46400 FLJ14871 OTTHUMP00000163609;clipin-E;coronin, actin binding protein 6;coronin-6;coronin-like protein E protein-coding ENSG00000167549 HGNC:21356 08607 VALIDATED 1350081 CORS2 cerebello-oculo-renal syndrome 2 ASSOCIATED WITH Joubert syndrome 2 (inferred); Meckel syndrome type 2 (inferred) 7240710 12908130;12917796 373067 HGNC:20888 603194;608091 1313560 COTL1 coactosin-like F-actin binding protein 1 This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008] 16 16 16 q24.1 68901034 68953456 - 84599202 84651669 - 84565596 84618096 - 1580863;6480464 10051563;11297527;11583571;11870627;12477932;12665801;14702039;15213466;15333945;15459340;15489334;15583396;16097034;16344560;16924104;17070122;19056867;19307756;19322201;19807693;21044950;21047053;21139048;21853274;22373659;22939629;23000965;24454796;24816145;25034252;7690594;9326934 23406 H3BT58;Q14019 ABBA01016905;ABBA01016906;ABBA01016907;ABBA01016908;ABBA01016909;ABBA01016910;ABBA01016911;AC022165;AC092145;AK026033;AK093712;AK125645;AK127352;AK315675;AMYH02032568;AMYH02032569;BC010039;BC010884;BC016702;BC020445;BC042970;BC053682;BT006968;BX395081;CH471114;DA968872;L08436;L54057;NM_021149 AAA88022;AAH10039;AAH10884;AAH16702;AAH42970;AAH53682;AAP35614;ACE87075;ADZ15769;BAG38040;EAW95475;EAW95476;EAW95477;NP_066972;Q14019 Hs.289092 1651357;1724067;1731817;1737301;1856119;5015961;5016478;5024756 D15S1477;D16S2644;D16S392;GDB:434012;RH119045;RH48210;RH80030;SHGC-60788 CLP;FLJ43657;MGC19733 OTTHUMP00000174986;coactosin-like 1;coactosin-like protein APPROVED protein-coding ENSG00000103187 HGNC:18304 09482 606748 REVIEWED 736209 CORT cortistatin This gene encodes a neuropeptide that is structurally similar to somatostatin. It binds to all known somatostatin receptors, and shares many pharmacological and functional properties with somatostatin, including the depression of neuronal activity. However, it also has many properties distinct from somatostatin, such as induction of slow-wave sleep, apparently by antagonism of the excitatory effects of acetylcholine on the cortex, reduction of locomotor activity, and activation of cation selective currents not responsive to somatostatin. The preproprotein undergoes further processing into multiple mature products. Read-through transcripts exist between this gene and the upstream APITD1 (apoptosis-inducing, TAF9-like domain 1) gene, as represented in GeneID:100526739. [provided by RefSeq, Nov 2010] 1 1 1 p36.22 9621375 9623363 + 10509776 10512060 + 10449719 10452003 + 1580863;6480464 10461921;10894940;11011067;11227737;11329013;12161511;12477932;12519865;12684217;12915402;12975309;14669820;16043736;18450367;18709137;19086053;20164562;20398908;23595952;8889548;9125122;9205124 1325 O00230;Q8IUV6 AB000263;ABBA01035603;AF013252;AF086433;AL354956;AMYH02000268;AV750349;AW205880;AY358561;BC040034;BC119724;BC119725;BF590359;CH471130;NM_001302 AAB66895;AAH40034;AAI19725;AAI19726;AAQ89950;BAA19770;EAW71650;NP_001293;O00230 Hs.412311 2218416 CORT_4621 CST-14;CST-17;CST-29 OTTHUMP00000001901;cortistatin-14;cortistatin-17;cortistatin-29;prepro-cortistatin;preprocortistatin APPROVED protein-coding ENSG00000241563 HGNC:2257 04150 602784 REVIEWED 1351326 CORO7 coronin 7 Coronins, such as CORO7, constitute an evolutionarily conserved family of WD-repeat actin-binding proteins. CORO7 plays a role in Golgi complex morphology and function (Rybakin et al., 2004, 2006 [PubMed 15327992] [PubMed 16905771]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 4613451 4675545 - 4404543 4466962 - 4354542 4416961 - 1580863;6480464;8554872 12477932;14702039;15327992;16344560;16905771;18581049;19946888;20379614;21130766;21139048;21890473;21906983;22505724;22939629;23000965;24768539;24816145;8889548 79585 B3KSY4;E7EP81;I3L0X8;I3L0Z7;I3L1G9;I3L1M1;I3L1T5;I3L1Z1;I3L212;I3L258;I3L2S7;I3L2Y6;I3L351;I3L359;I3L423;I3L426;I3L442;I3L482;I3NI06;P57737 ABBA01026770;ABBA01026771;ABBA01026772;ABBA01026773;ABBA01026774;AC004789;AC012676;AK025674;AK094596;AK097238;AK126176;AK294045;AK296723;AK296807;AK303353;AK309327;AK309763;AMYH02031323;BC117289;BC117291;BM671637;CH471112;DA094935;DR155527;NM_001201472;NM_001201473;NM_024535 AAI17290;AAI17292;ADR83427;BAB15211;BAG52896;BAG53439;BAG57397;BAG59311;BAG59380;BAG64414;EAW85307;EAW85308;EAW85310;NP_001188401;NP_001188402;NP_078811;P57737 Hs.437957;Hs.739021 1334581;1662220;2180176;2186914;5024543;5037552;5491637 Cda1eg08;D1S3690;D6S1566;D8S2279;MARC_3453-3454:996679102:1;RH69410;SHGC-56815 0610011B16Rik;CRN7;FLJ22021;FLJ44188;POD1 70 kDa WD repeat tumor rejection antigen homolog;OTTHUMP00000159839;coronin-7 APPROVED protein-coding ENSG00000262246 HGNC:26161 07975 611668 VALIDATED 1352897 COTL1P1 COTL1 pseudogene 1 17 17 17 p11.2 17696764 17699018 + 16757176 16759430 + 16853862 16856116 + 10615134 27170 ABBA01009769;AC022596;AMYH02033081;NG_001537 CLPSMCR APPROVED pseudo HGNC:2086 INFERRED 6481261 COX10-AS1 COX10 antisense RNA 1 17 17 13932609 13972775 - 14029292 14069458 - 14702039 100874058 ABBA01055031;ABBA01055032;AC005304;AC005389;AK123100;AMYH02033033;BI760398;NR_049718 Hs.720411 COX10-AS;COX10AS;FLJ41105 APPROVED ncrna ENSG00000236088 HGNC:38873 VALIDATED 1345793 COTL1P2 COTL1 pseudogene 2 17 17 17 p11.1 22071530 22073747 - 20467777 20469994 + 20564464 20566681 + 11997339 347720 ABBA01050440;AC015818;AMYH02033186;NG_002773 CLPSMCR APPROVED pseudo HGNC:24322 INFERRED 1343025 COX1 mitochondrially encoded cytochrome c oxidase I ENCODES a protein that exhibits cytochrome-c oxidase activity; INVOLVED IN hydrogen ion transmembrane transport; ASSOCIATED WITH Carcinoma, Hepatocellular (ortholog); Optic Nerve Injuries (ortholog); Parkinsonian Disorders (ortholog); FOUND IN respiratory chain complex IV; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; atrazine MT MT 5904 7445 + 5904 7445 + 2302296;2302301;6480464;8699517;8662362;8554872 12076086;17148469;2548155 11345519;11849212;12140182;14607829;14759509;15036329;15308583;15931342;16002321;16335786;16671096;16740593;17341490;17357124;17893145;18204294;18251004;18484665;18624398;18718066;19050702;19147801;19267350;19570036;19758471;20301403;20301411;20301595;20301607;20382059;20936779;21139048;21389643;21621438;21988832;22252130;22356826;22419111;22927926;22990118;23030649;23088713;23509693;23712756 4512 P00395;U5YWV7 J01415 AAB58945;YP_003024028 1675341;1690266;1736692;1791530;1793294;1793298;1794762;1794764;1794766 D17S813E;D1S2077E;PMC113853P1;PMC20756P1;PMC20756P3;PMC55343P1;PMC55343P2;PMC55343P3;RH98513 COI;MTCO1 cytochrome c oxidase subunit I APPROVED protein-coding HGNC:7419 516030 PROVISIONAL 1602844 COX14 cytochrome c oxidase assembly homolog 14 (S. cerevisiae) This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 12 12 12 q13.12 49301386 49309712 + 50503418 50514240 + 50111981 50120457 + 6480464;7240710;8699517;8554872 12477932;15342556;15489334;17207965;20877624;21906983;22243966;22356826;24250222 84987 Q96I36 ABBA01031555;ABBA01031556;AC025154;AC074032;AI208662;AK312180;AMYH02026453;BC007849;BG829783;BP369305;CH471111;DW418935;NG_032155;NM_001257133;NM_001257134;NM_032901 AAH07849;ADQ32419;BAG35113;EAW58130;NP_001244062;NP_001244063;NP_116290;Q96I36 Hs.388645 2177223;2177373 D12S2138;RH47067 C12orf62;MGC14288 COX14 cytochrome c oxidase assembly homolog;OTTHUMP00000242176;OTTHUMP00000242683;cytochrome c oxidase assembly protein C12orf62;cytochrome c oxidase assembly protein COX14;hypothetical protein LOC84987;uncharacterized protein C12orf62 APPROVED protein-coding ENSG00000178449 HGNC:28216 17495 220110;614478 REVIEWED 1321106 COX10 cytochrome c oxidase assembly homolog 10 (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008] 17 17 17 p12 13998545 14137802 + 13972719 14111996 + 14069402 14208679 + 1580863;6480464;6907045;7240710;8554872;8699517 10767350;11959398;12477932;12928484;14607829;15455402;15489334;16344560;17192483;19826901;20049701;20301352;20301382;20301403;20498629;20877624;22832960;8078902;8889548;9177788;9285799;9403059;9787083 1352 B4DFR1;B4DJ50;H7C101;J3KRW4;J3KSJ3;Q12887 ABBA01055032;ABBA01055033;AC005224;AC005389;AK294213;AK295925;AK312718;AMYH02033033;AMYH02033034;BC000060;BC006394;BQ184586;BT006985;CH471108;DA200545;NG_008034;NM_001303;U09466;U82004;U82010;XM_005256458;XM_005256459 AAA21148;AAC51330;AAH00060;AAH06394;AAP35631;ABM84530;ABM85999;BAG35592;BAG57522;BAG58712;EAW89956;EAW89957;NP_001294;Q12887;XP_005256515;XP_005256516 Hs.462278 1337757;1658470;1712346;1718569;1848946;2107949;2175933;7186700 COX10_8270;D17S922;G31031;G54161;L29898;RH122489;WI-20772 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase;OTTHUMP00000064705;cytochrome c oxidase assembly protein;cytochrome c oxidase subunit X;heme A: farnesyltransferase;heme O synthase;protoheme IX farnesyltransferase, mitochondrial APPROVED protein-coding ENSG00000006695 HGNC:2260 03673 220110;256000;602125 REVIEWED 1320366 COX11 cytochrome c oxidase assembly homolog 11 (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009] 17 17 17 q22 49491515 49508317 - 53029259 53046064 - 54951898 54968780 - 1580863;1300048;6480464;6907045 10617659;12477932;15489334;19330027;20601676;20877624;21906983;21988832;22863968;23535729;8619474;8889548;9110174;9878253 1353 B4DEY8;B4DI26;I3L4E7;Q9Y6N1 ABBA01041284;AC007485;AC090824;AF044321;AI500638;AI828544;AK124809;AK293851;AK295381;AMYH02033644;BC005895;BI598312;BM975167;CH471109;CR541837;NM_001162861;NM_001162862;NM_004375;NR_027941;NR_027942;U79270;W33157;XM_006721704;XM_006721705 AAB50214;AAD08645;AAH05895;ABM84062;ABM87417;BAG57249;BAG58338;CAG46636;EAW94547;EAW94548;EAW94549;EAW94550;NP_001156333;NP_001156334;NP_004366;Q9Y6N1;XP_006721767;XP_006721768 Hs.591171 1683199;1684784;2134381;2169245;2218842;5015435;5022578;5121809 A004C21;D1S1423;G33523;RH26130;RH39342;RH78591;TOM1L1__5116;WI-16135 COX11P COX11 cytochrome c oxidase assembly homolog;COX11 homolog, cytochrome c oxidase assembly protein;cytochrome c oxidase assembly protein COX11, mitochondrial;cytochrome c oxidase subunit 11 APPROVED protein-coding ENSG00000166260 HGNC:2261 04709 603648 REVIEWED 1321882 COX16 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) FOUND IN integral component of membrane (inferred); mitochondrial membrane (inferred); INTERACTS WITH copper(2+) sulfate; copper(II) chloride; cyclosporin A 14 14 14 q24.2 50855976 50890545 - 70791798 70826448 - 70325081 70359731 - 6480464 11042152;12477932;15489334;15596615;16341674;16712791;17207965;20877624;22082156 51241 B8XYC5;G3V2U5;Q9P0S2 ABBA01030815;ABBA01030816;AF151037;AF226729;AK290743;AL356804;AMYH02029446;AW088547;BC001702;BM799209;CB156527;CH471061;CR457199;FJ460510;FJ460511;NM_001204090;NM_016468 AAF36123;AAG09730;AAH01702;ACJ76681;ACJ76682;ADQ33208;BAF83432;CAG33480;EAW81031;NP_001191019;NP_057552;Q9P0S2 Hs.709581 1704276;1708014;1753471;1855723;2123464;2150706;5014051 D8S2278;RH69583;SHGC-107433;SHGC-32255;SHGC-81353;SHGC-83277;WI-14865 C14orf112;HSPC203 OTTHUMP00000245524;cytochrome c oxidase assembly factor;cytochrome c oxidase assembly protein COX16 homolog, mitochondrial protein-coding ENSG00000133983 HGNC:20213 16591 VALIDATED 1323821 COX15 cytochrome c oxidase assembly homolog 15 (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008] 10 10 10 q24 95205889 95229808 - 101455886 101492423 - 99696131 99732666 - 1598467;1598468;1300048;6480464;6907045;7240710;8699517;8554872 12474143;15235026 11248251;12477932;15489334;16344560;17945021;19826901;20049701;20301352;20301382;20301403;20562859;20877624;2175025;21906983;22412388;22939629;23251661;23464991;24250222;24816145;9878253 1355 Q7KZN9 ABBA01063243;ABBA01063244;AF026850;AF044323;AK291654;AK298864;AL133353;AMYH02023643;BC002382;BC013403;BC078161;BT007129;BX413913;BX537557;CH471066;DB094258;NG_008986;NM_004376;NM_078470;XM_005269539;XM_006717633;XM_006717634 AAD08639;AAD08646;AAH02382;AAH13403;AAH78161;AAP35793;ABM81636;ABM84818;BAF84343;BAG60984;CAD97781;EAW49857;EAW49858;NP_004367;NP_510870;Q7KZN9;XP_005269596;XP_006717696;XP_006717697 Hs.28326 1660215;1675297;1740095;1849297;2167906;5037552 A008T04;D10S1633;D8S2279;RH44559;RH65628;WI-13735 CEMCOX2 COX15 homolog, cytochrome c oxidase assembly protein;OTTHUMP00000020263;OTTHUMP00000020264;cytochrome c oxidase assembly protein COX15 homolog;cytochrome c oxidase subunit 15 APPROVED protein-coding HGNC:2263 04707 256000;603646;615119 REVIEWED 1344168 COX11P1 COX11 cytochrome c oxidase assembly homolog (yeast) pseudogene 1 6 6 6 p23-p22 30021124 30021834 + 28414697 28415407 + 28446920 28447630 + 9878253 140468 ABBA01038019;AF044322;AMYH02013394;NG_007347;Z98745 2134381 A004C21 COX11;COX11P APPROVED pseudo HGNC:2262 INFERRED 1626594 COX17P1 COX17 cytochrome c oxidase copper chaperone pseudogene 1 13 13 13 q14.13 28120809 28121211 + 47064992 47065394 + 46490857 46491259 + 10982038;17672825 81993 ABBA01050990;AF272832;AL138686;NG_001293 1672530;2118317;2179420 RH67876;STS-W67166;UniSTS:81716 COX17P APPROVED pseudo HGNC:24341 INFERRED 1605433 COX2 mitochondrially encoded cytochrome c oxidase II ENCODES a protein that exhibits cytochrome-c oxidase activity; INVOLVED IN hydrogen ion transmembrane transport; ASSOCIATED WITH Brain Injuries (ortholog); Diabetes Mellitus, Type 2 (ortholog); FOUND IN extracellular vesicular exosome; membrane; mitochondrion; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-di-tert-butyl-4-methylphenol MT MT 7586 8269 + 7586 8269 + 2300410;2302298;6480464;8554872 11686499;14563825 10194136;11849212;12031622;12115729;12732844;14607829;15254227;15282306;15308583;15316498;15931342;15965049;16288875;17353931;17500595;17578348;17619138;18409190;18509181;19050702;19066432;19295170;19336478;19738201;19758471;19771519;19840943;20186120;20301403;20301411;20471030;20936779;21069476;21092633;21139048;21319273;21858117;21890473;21988832;22145905;22241583;22252130;22262461;22419111;22990118;23826975;24061460;24654937;24931671 4513 P00403;Q9B2U8;U5Z487 J01415 AAB58946;YP_003024029 1675341;1690266;1736692;1791392;1793110;1793294;1793296;1793298;1794764;1794766;1794768;2182028 D17S813E;D1S2077E;PMC109173P1;PMC196577P3;PMC20756P1;PMC20756P2;PMC20756P3;PMC55343P2;PMC55343P3;PMC55343P4;RH98513;SHGC-57364 COII;MTCO2 cytochrome c oxidase subunit II APPROVED protein-coding HGNC:7421 516040 PROVISIONAL 1604709 COX18 COX18 cytochrome C oxidase assembly factor This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 4 4 4 q13.3 71276493 71291542 - 73920416 73935476 - 73054699 73069759 - 6480464 12477932;14702039;15489334;16212937;16911509;19373256;20200953;20379614;20819778;20877624;21546767;22082156;23535732;24250222 285521 B7ZL88;Q8N8Q8 ABBA01022984;AC095053;AK092641;AK096310;AM055750;AM055751;AM055752;AMYH02009456;AMYH02009457;AY957564;AY957565;BC071812;BC101684;BC143642;CH471057;DA385228;DA674605;NM_001297732;NM_001297733;NM_001300729;NM_173827;XM_005265679;XM_005265680 AAH71812;AAI01685;AAI43643;AAY35060;AAY35061;BAC04758;CAJ20055;CAJ20056;CAJ20057;EAX05653;NP_001284661;NP_001284662;NP_001287658;NP_776188;Q8N8Q8;XP_005265736;XP_005265737 Hs.356697 2129444;2170934;2178144;5016596;5020635;5020740;5020946;5022651;5037552;5109281 D11S2921;D1S1425;D7S3207;D8S2279;G16832;GDB:631802;L17809;L17971;SHGC-50750;STS-R43034 COX18HS;FLJ38991;MGC126733 COX18 cytochrome c oxidase assembly homolog;Cox18Hs1 protein;Cox18Hs2 protein;Cox18Hs3 protein;OTTHUMP00000160366;OTTHUMP00000219030;cytochrome c oxidase assembly homolog 18;cytochrome c oxidase assembly protein 18;mitochondrial COX18;mitochondrial inner membrane protein COX18 APPROVED protein-coding HGNC:26801 08249 610428 REVIEWED 733581 COX17 COX17 cytochrome c oxidase copper chaperone Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 117796888 117804750 - 119388372 119396243 - 119669525 119677396 - 1580863;1300048;6480464;6907045 10982038;11027508;11054125;11170391;12477932;14612491;14702039;15489334;15504366;15893662;16169070;16189514;16520371;16806233;17207965;17208454;17672825;18458339;19393246;20877624;21816817;21988832;22356826;9050918 10063 C9J8T6;H7C4E5;H7C5P5;Q14061 ABBA01061580;AC023494;AF269243;AF269244;AF269245;AK054900;AK095366;AK312143;AMYH02007503;AMYH02007504;BC010933;BC105280;BC108317;CH471052;L77701;NM_005694 AAA98114;AAF82569;AAH10933;AAI05281;AAI08318;ADQ32807;BAG35079;EAW79545;EAW79547;EAW79548;EAW79550;EAW79551;NP_005685;Q14061 Hs.534383 1672530;2118317;2179420 RH67876;STS-W67166;UniSTS:81716 MGC104397;MGC117386 COX17 cytochrome c oxidase assembly homolog;OTTHUMP00000215283;OTTHUMP00000215284;OTTHUMP00000215285;cytochrome c oxidase 17 copper chaperone;cytochrome c oxidase assembly homolog 17;cytochrome c oxidase copper chaperone;cytochrome c oxidase, subunit xvii assembly protein homolog (yeast);human homolog of yeast mitochondrial copper recruitment APPROVED protein-coding HGNC:2264 05314 604813 REVIEWED 1346278 COX20P1 COX20 cytochrome C oxidase assembly factor pseudogene 1 10 10 10 q21.3 63668046 63668402 + 70392094 70392593 + 68632337 68632836 + 100507102;414247 ABBA01019581;AL513534;AMYH02023256;NG_029198 1666558;1721433 G59568;RH48131 FAM36B;bA119F7.2 APPROVED pseudo HGNC:31435 INFERRED 1604553 COX19 cytochrome c oxidase assembly homolog 19 (S. cerevisiae) COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008] 7 7 7 p22.3 972231 982979 - 1004486 1015235 - 964850 975599 - 6480464 12477932;14702039;15489334;15596615;16212937;16344560;18029348;23345593;23897914;24816145 90639 F8WEL9;Q49B96 AA437231;ABBA01039313;ABBA01039314;AC073957;AK023185;AMYH02015037;AY957566;BC042434;BC053372;BC058158;BC070383;BC103632;BC110420;CH236965;CH471144;DB077585;NM_001031617 AAH70383;AAI03633;AAI10421;AAY35062;EAW87185;NP_001026788;Q49B96 Hs.121593 1656799;2166334 RH78402;SHGC-30563 MGC104475;hCOX19 COX19 cytochrome c oxidase assembly homolog;OTTHUMP00000200080;cytochrome c oxidase assembly protein COX19 APPROVED protein-coding HGNC:28074 610429 VALIDATED 1319259 COX20 COX20 cytochrome C oxidase assembly factor ASSOCIATED WITH Aminoaciduria (inferred); Anemia (inferred); Ataxia (inferred); FOUND IN mitochondrion; INTERACTS WITH all-trans-retinoic acid; atrazine; ethyl methanesulfonate 1 1 1 q44 218288590 218298310 + 244998608 245008359 + 244835337 244845057 + 737633;6480464;7240710;8554872;8699517 12477932 14702039;15489334;16710414;18029348;20877624;21139048;21890473;22356826;22678713;23000965;23125284;24202787;8889548 116228 B3KM21;Q5RI15 ABBA01047189;AF086182;AK000866;AK125259;AK130498;AK300760;AL122072;AMYH02003090;BC018519;BC062419;BC064399;BC095486;BG708903;BU732247;BX323046;CH471148;NM_198076 AAH18519;AAH62419;AAH95486;BAG50833;BAG54176;BAG62426;EAW77120;EAW77121;EAW77122;EAW77123;EAW77124;NP_932342;Q5RI15 Hs.411490 1649893;1666558;1675561;1687085;1721433 G59568;RH48131;RH91550;RH93746;SHGC-76622 FAM36A;FLJ43269 COX20 Cox2 chaperone homolog;OTTHUMP00000038200;OTTHUMP00000038201;cytochrome c oxidase protein 20 homolog;family with sequence similarity 36, member A;hypothetical protein LOC116228 APPROVED protein-coding ENSG00000203667 HGNC:26970 13307 220110;614698 VALIDATED 6484098 COX20P2 COX20 cytochrome C oxidase assembly factor pseudogene 2 2 2 q37.1 231822255 231822788 + 230957540 230958073 + 100289170 ABBA01050108;AC092534;AMYH02005960;NG_032776 APPROVED pseudo HGNC:43772 INFERRED 735839 COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung) Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 26982036 26989145 + 30225685 30232837 + 31637882 31645032 + 68709;1580863;1300048;2301376;6480464;6907045;7240710;8554872;8699517 11311561;18725894 10683230;11737208;11780052;11911854;12477932;1309738;15489334;17418790;17937768;19064571;19268275;20877624;2153405;21832049;23303788;2986725;6088481;6246917;8765469 84701 H6SG14;Q96KJ9 ABBA01019301;ABBA01019302;AF257180;AL117381;AMYH02036903;AY219183;BC057779;CH471077;HE647859;NG_012180;NM_032609;XM_005260579;XM_005260580;XM_005260581 AAH57779;AAK49333;CCF23107;EAW76431;NP_115998;Q96KJ9;XP_005260636;XP_005260637;XP_005260638 Hs.277101 COX4;COX4-2;COX4B;COX4L2;COXIV-2;dJ857M17.2 COX IV-2;OTTHUMP00000030533;cytochrome c oxidase subunit 4 isoform 2, mitochondrial;cytochrome c oxidase subunit IV-like 2 APPROVED protein-coding ENSG00000131055 HGNC:16232 12143 607976;612714 REVIEWED 1344638 COX4I1P1 cytochrome c oxidase subunit IV isoform 1 pseudogene 1 14 14 14 q23.2 42348914 42349597 - 62298457 62299140 - 61831739 61832422 - 122867 ABBA01018304;AL137918;AMYH02029319;NG_017086 COX4L1;COX4P1 pseudo HGNC:2266 INFERRED 3340338 COX4I1P2 cytochrome c oxidase subunit IV isoform 1 pseudogene 2 13 13 13 q14.13 27300644 27301190 + 46245980 46246526 + 45671845 45672391 + 652170 ABBA01050980;AL139320;AMYH02027978;NG_011339 pseudo HGNC:38036 INFERRED 68539 COX4I1 cytochrome c oxidase subunit IV isoform 1 Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. [provided by RefSeq, Jul 2008] 16 16 16 q24.1 70136278 70143686 + 85833173 85840608 + 85799567 85807002 + 1580863;1300048;2301376;6480464;6907045 18725894 10337626;10878243;11311561;12477932;1311608;1319058;14607829;15489334;16344560;17353931;17418790;18029348;19726511;19843159;19946888;20186120;20307258;20877624;20972266;21139048;2157630;2162812;21771582;21802404;21832049;21841246;21890473;21906983;21939634;21978537;22079200;22190034;22252130;22419111;23285255;23400010;2444497;8223633;8619474 1327 H3BN72;H3BNI5;H3BNV9;H3BPG0;H3BPR4;P13073;Q86WV2 ABBA01034279;AC018695;AF005889;AF017115;AK027136;AK311847;AMYH02032599;BC008704;BC021236;BC039013;BC047869;BC062437;BT019825;BU599266;CH471114;DA623889;M21575;M34600;NM_001861;U90915;X54802;XM_005255798 AAA52059;AAA99312;AAB51058;AAB94819;AAC99578;AAH08704;AAH21236;AAH47869;AAH62437;AAV38628;ABM84088;ABM87458;BAG34789;CAA38573;EAW95436;EAW95437;EAW95438;NP_001852;P13073;XP_005255855 Hs.433419 1685526;1792816;5014023;5015619;5016378;5037552 D11S3114;D13S1553;D8S2279;PMC164701P1;RH41774;RH66835 COX4;COX4-1;COXIV;FLJ23483;MGC72016 COX IV-1;OTTHUMP00000175004;cytochrome c oxidase polypeptide IV;cytochrome c oxidase subunit 4 isoform 1, mitochondrial;cytochrome c oxidase, subunit 4a APPROVED protein-coding ENSG00000131143 HGNC:2265 00466 123864 REVIEWED 1350345 COX5AP2 cytochrome c oxidase subunit Va pseudogene 2 14 14 14 q22.1 32451471 32452047 + 52584234 52584895 + 52117516 52118177 + 319087 ABBA01018162;AL118557;AMYH02029187;NG_002477 pseudo HGNC:20005 INFERRED 1353592 COX5AP1 cytochrome c oxidase subunit Va pseudogene 1 14 14 14 q22 35756642 35757360 - 55707157 55707875 - 55240439 55241157 - 10072584 9385 ABBA01018204;AF042162;AL158801;AMYH02029233;NG_001220 1767993;2170373 SHGC-35356;STS-AA040864 pseudo HGNC:2268 INFERRED 732301 COX5A cytochrome c oxidase subunit Va Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008] 15 15 15 q24.1 52162990 52180882 - 75212616 75230495 - 74920275 74938154 - 1580863;6480464;6907045 10072584;12477932;14607829;15101818;16169070;17353931;17500595;18197981;19834492;20307258;20877624;21139048;21490707;21890473;22190034;22419111;22748147;22939629;24583282;2853101;7498159;8313870 9377 H3BNX8;H3BRI0;H3BRM5;H3BV69;P20674 ABBA01060508;ABBA01060509;ABBA01060510;AC125435;AF067635;AI815421;AK026615;AK026623;AMYH02030801;AMYH02030802;AMYH02030803;AMYH02030804;BC024240;CH471136;CR407649;DQ987236;DQ987237;M22760;NM_004255 AAA99220;AAC73060;AAH24240;ABK92283;ABK92284;ABM84510;ABM87831;CAG28577;EAW99287;EAW99288;NP_004246;P20674 Hs.401903 1767993;2170373;5124097;5127476 RH68089;RH78933;SHGC-35356;STS-AA040864 COX;COX-VA;VA OTTHUMP00000183486;cytochrome c oxidase polypeptide Va;cytochrome c oxidase polypeptide, mitochondrial;cytochrome c oxidase subunit 5A, mitochondrial;cytochrome c oxidase, subunit va;mitochondrial cytochrome c oxidase subunit Va APPROVED protein-coding HGNC:2267 04799 603773 REVIEWED 734145 COX5B cytochrome c oxidase subunit Vb Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 92466522 92468658 + 98262521 98264657 + 97646058 97648194 + 1580863;1300048;2301377;6480464;6907045 16132109 10915781;11719263;12477932;15231747;15489334;16196087;1646156;17353931;17500595;18029348;19834492;19851296;20198315;20877624;21139048;2162812;21890473;22419111;22917272;22939629;23000965;24250222;24583282;24816145;2840351;8313870;8806766;9030264 1329 P10606 ABBA01073975;AC017099;AMYH02004375;BC006229;BT006742;CH471127;CR541727;CR541753;M19961;M59250;NM_001862;U41284 AAA52060;AAA52061;AAB19185;AAH06229;AAP35388;AAY24279;ABM92189;ABW03281;CAG46528;CAG46553;EAX01930;NP_001853;P10606 Hs.1342 1655390;1744031;5122860 GDB:384878;RH11516;RH66826 COXVB OTTHUMP00000161109;cytochrome c oxidase polypeptide VB, mitochondrial;cytochrome c oxidase subunit 5B, mitochondrial APPROVED protein-coding HGNC:2269 00467 123866 REVIEWED 1347957 COX5BP1 cytochrome c oxidase subunit Vb pseudogene 1 4 4 4 q21.3 80134096 80134596 - 82841075 82841553 - 81919922 81920400 - 1646156;9847074 1330 ABBA01063421;AC021863;AMYH02009586;NG_003010 COX5BL1 APPROVED pseudo HGNC:2270 INFERRED 1344627 COX5BP2 cytochrome c oxidase subunit Vb pseudogene 2 6 6 q23.3 136355653 136356024 - 136034515 136034886 - 1331 ABBA01025833;AL512290;AMYH02014553;NG_028814 COX5BL2 APPROVED pseudo HGNC:2271 INFERRED 1353209 COX5BP3 cytochrome c oxidase subunit Vb pseudogene 3 7 7 q33 133412033 133412521 - 133727280 133727768 - 1332 ABBA01001102;AC007790;AMYH02016797;NG_028677 COX5BL3 APPROVED pseudo HGNC:2272 INFERRED 1346297 COX5BP5 cytochrome c oxidase subunit Vb pseudogene 5 12 12 12 q13.12 48898464 48898844 + 50102785 50103247 + 49709002 49709464 + 100288440 ABBA01031530;AC020612;AMYH02026447;NG_028197 COX5BL5 APPROVED pseudo HGNC:2274 INFERRED 1349774 COX5BP4 cytochrome c oxidase subunit Vb pseudogene 4 11 11 q 82817530 82818025 - 83106488 83106983 - 1333 ABBA01017367;AMYH02025190;AP001767;NG_028804 COX5BL4 APPROVED pseudo HGNC:2273 INFERRED 1342750 COX5BP6 cytochrome c oxidase subunit Vb pseudogene 6 13 13 q32.3 101275927 101276769 - 100623673 100624515 - 101234262 ABBA01027088;AL359085;AMYH02028611;NG_033121 COX5BL6;FLJ22153 APPROVED pseudo ENSG00000237082 HGNC:2275 INFERRED 1351554 COX5BP7 cytochrome c oxidase subunit Vb pseudogene 7 22 22 22 q13.1 23318226 23318613 - 39516091 39516678 - 39120086 39120673 - 1336 ABBA01055551;AL031846;AMYH02038372;NG_002633 COX5BL7 APPROVED pseudo HGNC:2276 INFERRED 5684569 COX5BP8 cytochrome c oxidase subunit Vb pseudogene 8 1 1 q25.2 179224868 179225216 + 179255733 179256081 + 100859925 ABBA01027817;AL512326;AMYH02002230;NG_031947 pseudo HGNC:39083 INFERRED 1346319 COX6A1P1 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 1 1 1 1 p31.1 79200704 79201239 + 80961574 80962107 + 80495889 80496422 + 10773445;9177785;9284905 1338 ABBA01074364;AL596276;AMYH02001335;NG_001105;U82486 2144902;2175991 D1S3336;STS-X15341 COX6A1P APPROVED pseudo HGNC:2278 INFERRED 2306589 COX6A1P2 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 2 ENCODES a protein that exhibits cytochrome-c oxidase activity (inferred); INVOLVED IN hydrogen ion transmembrane transport (inferred); FOUND IN mitochondrial respiratory chain complex IV (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog); capsaicin (ortholog) 6 6 6 p21.2 38567661 38568208 + 37012607 37013158 + 37044831 37045382 + 6480464 9202413;9284905 285849 Q5T8I0 ABBA01038270;AL160264;AMYH02013561;NG_004806 2144902;2175991 D1S3336;STS-X15341 pseudo HGNC:35239 INFERRED 735899 COX6A1 cytochrome c oxidase subunit VIa polypeptide 1 Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008] 12 12 12 q24.2 120509797 120512425 + 120875893 120878545 + 120438090 120440742 + 1580863;6480464;6907045 10773445;12477932;1286669;1327966;15342556;15489334;16541075;17500595;18549809;18624398;19843159;20307258;20877624;21890473;22419111;2549515;8241294;9190060;9202413;9284905 1337 H6SG15;P12074 ABBA01020120;AF020589;AK312009;AL021546;AMYH02027373;AMYH02027374;BC007723;BC070186;BC107861;BP378295;CH471054;HE647860;NG_034299;NM_004373;U83702;X15341 AAC98895;AAD00554;AAH07723;AAH70186;AAI07862;ABM84025;ABM87370;BAG34947;CAA33392;CCF23108;EAW98190;EAW98191;NP_004364;P12074 Hs.369624 2144902;2175991;5107501 D1S3336;G29082;STS-X15341 CMTRID;COX6A;COX6AL;MGC104500 COX VIa-L;OTTHUMP00000045456;cytochrome C oxidase subunit VIa homolog;cytochrome c oxidase polypeptide VIa-liver;cytochrome c oxidase subunit 6A1, mitochondrial;cytochrome c oxidase subunit VIA-liver;cytochrome c oxidase, subunit via, polypeptide 1 APPROVED protein-coding ENSG00000111775 HGNC:2277 03644 602072;616039 REVIEWED 3077623 COX6A1P3 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 3 6 6 6 q22.31 121847045 121847493 + 121102334 121102782 + 120781188 120781636 + 100287768 ABBA01026006;AL357513;AMYH02014391;NG_016160 pseudo HGNC:37633 INFERRED 736247 COX6A2 cytochrome c oxidase subunit VIa polypeptide 2 Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008] 16 16 16 p11.12 28868661 28869331 + 31439052 31439749 - 31427731 31428428 - 1580863;1300048;6480464;6907045 12477932;1327966;15342556;15489334;21832049;21988832;22419111;24250222;8241294;8681137;9177785;9284905 1339 Q02221 ABBA01042093;ABBA01042094;AC026471;AMYH02031849;AMYH02031850;BC029818;BP319904;CH471192;F27891;HE647858;M83308;NM_005205;U66875 AAA52062;AAC51328;AAH29818;ABM84649;ABM92178;CCF23106;EAW52137;EAW52138;NP_005196;Q02221 Hs.250760 2165742 STS-M83308 COX6AH;COXVIAH COX VIa-M;OTTHUMP00000163297;cytochrome c oxidase polypeptide VIa-heart;cytochrome c oxidase subunit 6A2, mitochondrial;cytochrome c oxidase subunit VIA-muscle APPROVED protein-coding ENSG00000156885 HGNC:2279 03598 602009 REVIEWED 1343660 COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010] 19 19 19 q13.1 32852598 32863159 + 36139125 36149686 + 35648223 35658784 + 1580863;6480464;6907045;7240710;8554872;8699517 11943455;12477932;15057824;15489334;1647217;1650756;1651883;17353931;17500595;17516841;18029348;18499082;19843159;20877624;21139048;2172092;21890473;21906983;21963094;22190034;22419111;22505724;22939629;23000965;24583282;24781756;24816145;2537962;7821789 1340 K7EQD3;P14854 ABBA01018751;AC002115;AK312140;AMYH02035986;BC001015;BC002478;BT006945;CR456789;CR542137;D28426;DB443544;NG_012193;NM_001863;X13923;X54473;X58139 AAB57628;AAH01015;AAH02478;AAP35591;ABM84535;ABM86004;BAA05792;BAG35076;CAA32114;CAA38352;CAA41147;CAG33070;CAG46934;NP_001854;P14854 Hs.431668 1678447;2151386;5020298 RH18087;RH91816;SHGC-30021 COX6B;COXG;COXVIb1 COX VIb-1;OTTHUMP00000045788;cytochrome c oxidase subunit 6B1 APPROVED protein-coding ENSG00000126267 HGNC:2280 00493 124089;220110 REVIEWED 1352312 COX6B1P2 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 2 17 17 17 q21.32 43245156 43245377 + 46791009 46791230 + 48713647 48713868 + 1651883;1651884 1342 ABBA01041174;AC091179;AMYH02033545;M38260;NG_005205 COX6BP-2;COX6BP2 APPROVED pseudo HGNC:2282 INFERRED 1344500 COX6B1P3 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 3 22 22 22 q13.2 24768865 24769357 + 40965193 40965685 + 40569189 40569681 + 1651884 1343 ABBA01055606;AL031594;AMYH02038408;M38261;NG_005206 1338228 D22S534 COX6BP-3;COX6BP3 APPROVED pseudo HGNC:2283 INFERRED 1346692 COX6B1P4 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 4 8 8 8 p21.2 25656453 25656718 - 26693500 26693765 - 26835983 26836248 - 1651883;1651884 100462850 ABBA01005578;AC091675;AMYH02017665;NG_026013;NG_029395 COX6BP4 APPROVED pseudo HGNC:2284 INFERRED 3436160 COX6B1P5 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 5 4 4 4 p16.3 2148326 2155984 + 2235978 2243636 + 2234251 2241909 + 100289662 ABBA01029517;AL158068;AMYH02008604;NG_016561 1699668;1850015;2130651;2141370;7184652 D4S43;RH103438;SHGC-24794;SHGC-50550;SHGC-59813 pseudo HGNC:37675 INFERRED 3051012 COX6B1P6 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 6 8 8 8 87030587 87030875 - 90835770 90836058 - 89823542 89823830 - 100462851 ABBA01037400;AF117829;AMYH02018389;NG_022396 pseudo HGNC:37676 INFERRED 1351404 COX6B1P1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 1 7 7 7 q36.1 143420761 143421201 + 148750959 148751399 + 149053867 149054307 + 1651883;1651884 140603 ABBA01033612;AC093743;AMYH02017036;M38259;NG_007348 1678447 RH91816 COX6BP-1;COX6BP1 APPROVED pseudo HGNC:2281 INFERRED 1349779 COX6B2 cytochrome c oxidase subunit VIb polypeptide 2 (testis) ENCODES a protein that exhibits cytochrome-c oxidase activity (inferred); INVOLVED IN hydrogen ion transmembrane transport (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; FOUND IN mitochondrial crista; INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-di-tert-butyl-4-methylphenol (ortholog) 19 19 19 q13.42 52902036 52907148 - 55861070 55866182 - 55349702 55354814 - 737633;6480464;6907045 12477932 12874793;14702039;15489334;17207965;18854154;2172092 125965 Q6YFQ2 ABBA01068105;AC020922;AK057427;AMYH02036461;AY152398;BC026123;BC064548;BC100899;BC100900;BC100901;BC100902;BG717038;CH471135;NM_144613 AAH26123;AAI00900;AAI00901;AAI00902;AAI00903;AAN46751;ADQ33087;BAB71481;EAW72367;EAW72368;NP_653214;Q6YFQ2 Hs.550544 5015619;5015861;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D8S2279 COXVIB2;CT59;FLJ46422;MGC119094 COX VIb-2;cancer/testis antigen 59;cytochrome c oxidase subunit 6B2;cytochrome c oxidase subunit VIb, testes specific;cytochrome c oxidase subunit VIb, testes-specific;cytochrome c oxidase subunit VIb, testis-specific isoform protein-coding ENSG00000160471 HGNC:24380 13088 VALIDATED 3207451 COX6B1P7 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 7 1 1 1 p31.3 67038668 67038920 + 68748051 68748303 + 68282368 68282620 + 100133210 ABBA01074508;AMYH02001215;BX284678;NG_022782 pseudo HGNC:37677 INFERRED 736850 COX6C cytochrome c oxidase subunit VIc Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010] 8 8 8 q22.2 97076023 97092041 - 100890223 100906242 - 99877995 99894014 - 1580863;1300048;6480464;6907045 10072584;12477932;15489334;16169070;17353931;17500595;17516841;19064571;19843159;20195357;20877624;21139048;21906983;21988832;22419111;22860893;24250222;24816145;2849755;8705997;9752724;9930743 1345 P09669 ABBA01037558;AC105328;AF067636;AF067637;AK311791;AMYH02018497;BC000187;BT007007;CH471060;NM_004374;S82616;X13238 AAC73061;AAH00187;AAP35653;ABM87796;ABM92159;ACE87217;BAG34734;CAA31624;EAW91791;EAW91792;EAW91793;NP_004365;P09669 Hs.351875 2123625;2152814 RH79007;STS-N66159 OTTHUMP00000227259;OTTHUMP00000227260;OTTHUMP00000227261;OTTHUMP00000227262;OTTHUMP00000227263;OTTHUMP00000227264;OTTHUMP00000227265;OTTHUMP00000227266;OTTHUMP00000227267;OTTHUMP00000227268;cytochrome c oxidase polypeptide VIc;cytochrome c oxidase subunit 6C;cytochrome c oxidase subunit VIc preprotein APPROVED protein-coding ENSG00000164919 HGNC:2285 00494 124090 REVIEWED 1343648 COX6CP1 cytochrome c oxidase subunit VIc pseudogene 1 16 16 16 p12 12171984 12172376 - 11997658 11998050 - 11903801 11904193 - 10072584 9384 ABBA01006836;AC007216;AF042163;AMYH02031489;NG_001219 pseudo HGNC:2286 INFERRED 1352296 COX6CP2 cytochrome c oxidase subunit VIc pseudogene 2 20 20 20 q13.13 45800519 45800908 + 49096253 49096642 + 50479716 50480105 + 170504 ABBA01052781;AL034429;AMYH02037235;NG_001033 dJ894K16.1 pseudo HGNC:16600 INFERRED 5130647 COX6CP3 cytochrome c oxidase subunit VIc pseudogene 3 18 18 18 p11.32 1051265 1051687 - 1176651 1177073 - 1176650 1177072 - 100130247 ABBA01049825;AMYH02034200;AP000829;NG_012734 pseudo HGNC:31721 INFERRED 2312707 COX6CP4 cytochrome c oxidase subunit VIc pseudogene 4 15 15 15 q14 13624232 13624611 + 36864131 36864510 + 36571930 36572309 + 100288892 ABBA01038497;AC103988;AMYH02030197;NG_012732 pseudo HGNC:32374 INFERRED 6480188 COX6CP5 cytochrome c oxidase subunit VIc pseudogene 5 11 11 p15.4 7999043 7999252 + 7977496 7977705 + 100862855 ABBA01028684;AC116456;AMYH02024287;NG_032147 pseudo HGNC:42791 INFERRED 1348243 COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 33355996 33357943 - 36641824 36643771 - 36150922 36152869 - 1580863;6480464;6907045 10335655;11997101;12477932;1309697;1327965;15057824;15489334;18488190;19843159;19913121;20628086;20877624;22419111;2550906;9344674;9752724 1346 K7ER11;P24310;Q6FGI7;U3KQH8 ABBA01018779;AC002984;AD001527;AF037372;AF127789;AK312091;AMYH02036000;BC002757;BT006924;CR542120;HE647857;M83186;NM_001864;U81524 AAA52166;AAB51184;AAB81547;AAB82735;AAB92616;AAF72747;AAH02757;AAP35570;ABM84472;ABM84736;ABM92252;ABW03614;ABW03615;ABW03616;BAG35027;CAG46917;CCF23105;NP_001855;P24310 Hs.421621 5024636 RH93348 COX7A;COX7AH;COX7AM OTTHUMP00000045828;OTTHUMP00000045829;cytochrome c oxidase subunit 7A1, mitochondrial;cytochrome c oxidase subunit VIIa heart/muscle isoform;cytochrome c oxidase subunit VIIa-H;cytochrome c oxidase subunit VIIa-M;cytochrome c oxidase subunit VIIa-heart;cytochrome c oxidase subunit VIIa-muscle APPROVED protein-coding ENSG00000161281 HGNC:2287 00481 123995 REVIEWED 7249508 COX6CP6 cytochrome c oxidase subunit VIc pseudogene 6 3 3 3 p13 70727143 70727548 + 70800218 70800623 + 70751067 70751472 + 100289131 ABBA01030923;AC096971;AMYH02007035;NG_012733 pseudo HGNC:47037 INFERRED 1342607 COX7A2 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009] 6 6 6 q12 76341126 76347377 - 75947391 75953644 - 75237675 75243928 - 1580863;6480464;6907045 11004498;12477932;1309697;1327965;14574404;15489334;16712791;19064571;20877624;2159420;21890473;21906983;21963094;21987572;22354994;22356826;22365974;22419111;2550906;9202412;9202413;9752724 1347 D6R9C3;D6RA35;D6RGV5;D6RIE3;H0UI06;H0Y8S6;P14406 AA978033;ABBA01040356;AF134406;AK312154;AL080250;AMYH02013930;BC100852;BC100853;BC100854;BC101826;BC101828;BC133654;CB139775;CH471051;CK821341;CR407646;CR542125;HE647861;NM_001865;NR_029466;X15822;XM_006715335 AAF61396;AAI00853;AAI00854;AAI00855;AAI01827;AAI01829;AAI33655;BAG35088;CAA33820;CAG28574;CAG46922;CCF23109;EAW48746;EAW48747;NP_001856;P14406;XP_006715398 Hs.70312 1668562;1678851;2220538;2220666;5126406 D4S3276;RH41034;UniSTS:484221;UniSTS:489009;WI-20346 COX7AL;COX7AL1;COXVIIAL;COXVIIa-L;MGC118950;MGC118951;MGC118952;MGC126875;MGC126877;VIIAL OTTHUMP00000016749;OTTHUMP00000016750;OTTHUMP00000220651;OTTHUMP00000220652;OTTHUMP00000220653;OTTHUMP00000220654;cytochrome c oxidase polypeptide 7A2, mitochondrial;cytochrome c oxidase polypeptide VIIa-liver/heart;cytochrome c oxidase subunit 7A2, mitochondrial;cytochrome c oxidase subunit VIIa-L;cytochrome c oxidase subunit VIIa-liver/heart;cytochrome c oxidase subunit VIIaL;hepatic cytochrome-c oxidase chain VIIa APPROVED protein-coding ENSG00000112695 HGNC:2288 00482 123996 REVIEWED 1314534 COX7A2L cytochrome c oxidase subunit VIIa polypeptide 2 like Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. [provided by RefSeq, Jul 2008] 2 2 2 p21 42417924 42428640 - 42577640 42596150 - 42350502 42361216 - 1580863;1300048;6480464;6907045 10335655;11156535;12477932;14562965;14702039;15489334;16189514;19064571;19322201;19834535;20307258;20877624;21139048;21890473;22939629;8647836;9418891 9167 E5RFH8;E5RJZ1;H0YBD2;O14548;Q6FGA0 AB007618;AB007620;ABBA01075060;AC006038;AF127788;AK092911;AK130281;AMYH02003673;AY007643;BC005251;BC007095;BT007371;CH471053;CR542208;NM_004718 AAF72746;AAG32129;AAH05251;AAH07095;AAP36035;AAY15087;ABM84655;ABM92183;BAA22571;BAG52628;CAG47004;EAX00320;EAX00321;EAX00322;EAX00323;NP_004709;O14548 Hs.339639;Hs.744101 2158648;2178909 RH35811;WIAF-1562 COX7AR;COX7RP;EB1;SIG81 COX7a-related protein;OTTHUMP00000158765;cytochrome c oxidase subunit 7A-related protein, mitochondrial;cytochrome c oxidase subunit VII-related protein;cytochrome c oxidase subunit VIIa-related protein;estrogen receptor binding CpG island APPROVED protein-coding ENSG00000115944 HGNC:2289 05774 605771 REVIEWED 1352739 COX7A2P1 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 1 14 14 14 q24.1 48178007 48178407 - 68118946 68119346 - 67652229 67652629 - 1327965;9202412 319098 ABBA01023707;AL049779;AMYH02029403;NG_002479;NG_011964 2174071 A008X14 COX7A3P;COX7AP1 APPROVED pseudo HGNC:20006 INFERRED 1347060 COX7A2P2 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 2 ENCODES a protein that exhibits cytochrome-c oxidase activity (inferred); INVOLVED IN hydrogen ion transmembrane transport (inferred); FOUND IN mitochondrial respiratory chain (inferred); INTERACTS WITH cobalt dichloride; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 q22.3 95119526 95119948 + 97823918 97824340 + 96902767 96903189 + 6480464 1327965;15815621 1348 O60397 ABBA01063645;AC004544;AMYH02009775;NG_004712 AAC12952;O60397 1668562;1678851;2220538;2220666 D4S3276;RH41034;UniSTS:484221;UniSTS:489009 COX7A3;COX7AL;COX7AL2;COX7AP2 APPROVED pseudo HGNC:2290 00483 123997 INFERRED 1353874 COX7B2 cytochrome c oxidase subunit VIIb2 ENCODES a protein that exhibits cytochrome-c oxidase activity (inferred); INVOLVED IN hydrogen ion transmembrane transport (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); mitochondrial respiratory chain (inferred); INTERACTS WITH benzo[a]pyrene; calcitriol; testosterone 4 4 4 p12 47185698 47295989 - 46736844 46911252 - 46734827 46909235 - 1580863;6480464;6907045;8554872 12477932;15489334;15623157;17207965;19064571;22419111;23793025;23937595 170712 D6R9N1;Q8TF08 ABBA01014328;ABBA01014329;ABBA01014330;AC107383;AC108931;AF125109;AMYH02009154;AMYH02009155;AMYH02009156;BC035923;BC107855;CH471069;DB447854;NM_130902;XM_005248054;XM_005248055;XM_005248056;XM_006713994;XM_006713995 AAH35923;AAI07856;AAL75946;ADQ32957;EAW93028;NP_570972;Q8TF08;XP_005248111;XP_005248112;XP_005248113;XP_006714057;XP_006714058 Hs.479656 1718473;2155607;2218418 COX7B2_4623;D4S346;RH122438 MGC102754 OTTHUMP00000125272;OTTHUMP00000195111;OTTHUMP00000218444;cytochrome c oxidase polypeptide VIIb2;cytochrome c oxidase subunit 7B2, mitochondrial protein-coding ENSG00000170516 HGNC:24381 13089 609811 VALIDATED 1343507 COX7BP1 cytochrome c oxidase subunit VIIb pseudogene 1 INTERACTS WITH isotretinoin 22 22 22 q13 19393090 19393722 - 35590395 35591025 - 35194402 35195032 - 6480464 114657 ABBA01055412;AF042164;AMYH02038299;NG_001300;Z99755 1678077 RH93329 bK714B7.1 pseudo HGNC:16529 INFERRED 1344241 COX7B cytochrome c oxidase subunit VIIb Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011] X X X q21.1 77395826 77401746 + 77154961 77160881 + 77899464 77905384 + 1580863;6480464;6907045;8699517;8554872;7240710 12477932;1309697;15489334;15772651;20307258;21890473;22419111;22860893;23122588;3007143;8382530;8781533;9660196;9752724 1349 P24311 ABBA01029590;ABBA01029591;ABBA01029592;AK311879;AL356235;AMYH02039820;BC018386;BT009767;CH471104;CR450332;CR542124;NG_033027;NM_001866;Z14244 AAH18386;AAP88769;ABM92161;ABW03273;BAG34820;CAA78613;CAG29328;CAG46921;EAW98607;NP_001857;P24311 Hs.522699 1678077 RH93329 APLCC OTTHUMP00000024326;cytochrome c oxidase polypeptide VIIb;cytochrome c oxidase subunit 7B, mitochondrial;cytochrome-c oxidase chain VIIb APPROVED protein-coding HGNC:2291 04812 300885;300887 REVIEWED 1344114 COX7BP2 cytochrome c oxidase subunit VIIb pseudogene 2 20 20 20 q11.23 31186707 31187163 - 34438423 34438880 - 35850501 35850958 - 140692 ABBA01019140;AL078461;AMYH02037010;NG_005370 dJ901O8.2 pseudo HGNC:16601 INFERRED 1353652 COX7C cytochrome c oxidase subunit VIIc Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008] 5 5 5 q14 81805741 81808540 + 85913784 85916583 + 86617967 86620766 + 1580863;6480464;6907045 10072584;12477932;1309697;15489334;17516841;2155413;21890473;22419111;23720494;24583282;7926688;9752724 1350 D6R9Z7;P15954 ABBA01062114;AC108110;AF067638;AF067639;AK026505;AMYH02011740;BC001005;BC007498;BT007098;CH471084;NM_001867;X16560 AAC73062;AAH01005;AAH07498;AAP35762;ABM82281;ABM85462;CAA34559;EAW95922;EAW95923;EAW95924;NP_001858;P15954 Hs.430075 OTTHUMP00000147590;OTTHUMP00000222397;cytochrome c oxidase polypeptide VIIc;cytochrome c oxidase subunit 7C, mitochondrial;cytochrome-c oxidase chain VIIc APPROVED protein-coding HGNC:2292 04800 603774 REVIEWED 1351845 COX7CP1 cytochrome c oxidase subunit VIIc pseudogene 1 13 13 13 q14-q21 30817372 30817762 - 49761495 49761885 - 49187359 49187749 - 10072584 9386 ABBA01051015;AF042165;AL137000;AMYH02028010;NG_001221 1681732 RH69432 pseudo HGNC:2293 INFERRED 1348555 COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008] 11 11 11 q12-q13 61068864 61070800 + 63742079 63744015 + 63974607 63976543 + 1580863;6480464;6907045 10637443;12477932;12909344;15489334;20877624;21139048;21988832;22419111;2543673;2847943 1351 P10176;Q53XN1 ABBA01003282;AK311934;AMYH02024925;AP000721;BC000501;BC063025;BT009803;CH471076;CR407687;J04823;NM_004074 AAA99313;AAH63025;AAP88805;BAG34875;CAG28615;EAW74186;NP_004065;P10176 Hs.743989 1665765;1742485;2109183;2168446;2180467 COX8;COX8A_8269;D11S4326;GDB:197529;RH11612 COX;COX8;COX8-2;COX8L;VIII;VIII-L OTTHUMP00000236856;cytochrome c oxidase polypeptide VIII-liver/heart;cytochrome c oxidase subunit 8-2;cytochrome c oxidase subunit 8A (ubiquitous);cytochrome c oxidase subunit 8A, mitochondrial;cytochrome c oxidase subunit VIII APPROVED protein-coding ENSG00000176340 HGNC:2294 00468 123870 REVIEWED 1344927 COX8C cytochrome c oxidase subunit VIIIC ENCODES a protein that exhibits cytochrome-c oxidase activity (inferred); INVOLVED IN hydrogen ion transmembrane transport (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion; INTERACTS WITH atrazine; indole-3-methanol (ortholog) 14 14 14 q32.12 73867551 73868714 + 93813537 93814700 + 93347191 93348354 + 724423;1580863;6480464;6907045;8554872 12909344 12477932;12762575;15489334;20877624;22419111 341947 Q7Z4L0 ABBA01030432;AL122023;AMYH02029772;AY161004;BC101125;BC101126;CH471061;NM_182971 AAI01126;AAI01127;AAO26193;EAW81530;NP_892016;Q7Z4L0 Hs.666459 5493097 UniSTS:484220 COX8-3;MGC119774;MGC119775 COX VIII-3;OTTHUMP00000245724;cytochrome c oxidase polypeptide 8;cytochrome c oxidase polypeptide VIII;cytochrome c oxidase subunit 8-3;cytochrome c oxidase subunit 8C, mitochondrial;cytochrome c oxidase subunit VIII APPROVED protein-coding ENSG00000187581 HGNC:24382 13090 VALIDATED 1354273 COX8BP cytochrome c oxidase subunit VIIIB, pseudogene Cytochrome c oxidase is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. In addition a number of cytochrome c oxidase subunit pseudogenes have been found. This gene represents a subunit which has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 302213 305754 + 253417 256972 - 253417 256972 - 724423;1599987;2301397;6480464 12909344;14618266;16027000 12716970;18085818 404544 ABBA01011167;AC136475;AMYH02024127;NG_003253 2111990;2111992;2173870 D11S4894;D11S4895;STS-T99644 COX8-1;COX8B;COX8H APPROVED pseudo HGNC:31395 INFERRED 733563 CPA1 carboxypeptidase A1 (pancreatic) Three different forms of human pancreatic procarboxypeptidase A have been isolated. This gene encodes a monomeric pancreatic exopeptidase involved in zymogen inhibition. [provided by RefSeq, Jan 2009] 7 7 7 q32 124816055 124823715 + 130020290 130027949 + 130380449 130388108 + 1580863;6480464;8554872 11920156;12477932;12690205;1417781;15489334;17620599;18566513;1969228;21098023;21502183;2307232;23955596;24624459;2920728;3455919;7570003;8806703 1357 C9JQ63;C9JUF9;C9JUZ4;P15085;S4R433 ABBA01057589;AC007938;AK124421;AK131054;AK291493;AK293366;AMYH02016752;BC005279;BT007313;CH236950;CH471070;NM_001868;X67318 AAH05279;AAP35977;ABM84654;ABM92182;BAF84182;BAG56880;CAA47732;EAL24089;EAW83762;EAW83763;NP_001859;P15085 Hs.2879 2148152;2157758;2159167 CPA1;RH47473;RH47474 CPA OTTHUMP00000212514;OTTHUMP00000212515;OTTHUMP00000212518;carboxypeptidase A1;pancreatic carboxypeptidase A APPROVED protein-coding ENSG00000091704 HGNC:2296 00269 114850 REVIEWED 736782 CP ceruloplasmin (ferroxidase) The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012] 3 3 3 q23-q25 147300808 147350343 - 148880197 148939832 - 149162410 149222055 - 1599626;1599198;1599627;1358523;1580863;2314684;2314686;2314687;2314688;2314689;2314681;2314682;2314685;6480464;6484113;6907045;7240710;8554872;8699517 16671455;16947119;17603912;18210749;18273071;19188839;19205849;19298605;19526092;19834873;7539672;7914452 10490627;10660599;10666301;11040994;11095930;11681312;11689010;11783942;11908641;12029093;12055353;12107410;12132593;12175089;12177070;12351628;12477932;12575997;12708132;12724641;12952974;146197;1463466;14702039;14718574;14760718;15084671;15103512;15111541;15174051;15479637;15557511;15648851;15668644;15741220;15752613;16150804;16335952;16373913;16502470;16756764;16775387;16831606;17013908;17032174;17404760;17597152;17601350;17637479;17661447;17688883;17897319;17965133;17991445;18022819;18060472;18187043;18200628;18293024;18307039;18311828;18388036;18679377;18952589;18977241;19019832;19031316;19056867;19095659;19159062;19164917;19228837;19382692;19471883;19585161;19648144;19670106;19681912;19821764;19850743;19916937;19996109;20301334;20301666;20587610;20655381;20658982;20801540;2105310;21109502;21185807;21314617;21315066;21474797;2154449;21706376;21901748;21988832;22075249;22145905;22589738;22708402;22923205;23012398;23154483;23306200;2332446;23344859;23447832;23505556;2355023;23640881;23781119;23786280;23812204;23861484;23925487;24072069;24118451;24256706;24282481;24366863;2873574;3474786;3486416;3755405;463490;6337857;6479854;6571985;6582496;6940148;6987229;6987230;7702601;7708681;8679709;8789443;8889548;8968753;9097926;9360306;9445478;9500710;9727700;9788274 1356 A5PL27;D6RE86;E9PFZ2;H7C5N5;H7C5R1;P00450 ABBA01058947;AC093001;AC131209;AF132978;AK095290;AK291219;AK299272;AK309279;AMYH02007884;BC039239;BC061702;BC070304;BC094709;BC142714;BC146663;BC146801;BX647327;CA391602;CB321657;CH471052;D00025;D45045;DC334592;DQ314867;EU567149;M13536;M13699;NG_011800;NM_000096;NR_046371;X04135;X04136;X04137;X04138;X69706;XM_006713499;XM_006713500;XM_006713501;XM_006713502;XR_427361 AAA51975;AAA51976;AAF02483;AAH70304;AAI42715;AAI46664;ABC40726;ACB21047;BAA00019;BAA08084;BAA08085;BAF83908;BAG53020;BAH12988;CAA27752;CAA27753;CAA27754;CAA27755;EAW78882;EAW78883;EAW78884;NP_000087;P00450;XP_006713562;XP_006713563;XP_006713564;XP_006713565 Hs.558314 1741427;1745539;1745541;1745543;1745545;1745547;1745549;1745551;1745553;1745555;1745557;1745559;1745561;1745563;1745565;1745567;1745569;1784908;1849047;2160274;2176521;2219810;5016582;5117831;5491336 CP-000F;D3S3906;GDB:181199;GDB:624419;GDB:624422;GDB:624426;GDB:624429;GDB:624432;GDB:624435;GDB:624438;GDB:624441;GDB:624444;GDB:624447;GDB:624449;GDB:624453;GDB:624457;GDB:624460;GDB:624463;GDB:624466;GDB:624469;GDB:624472;HPS3__6583;SHGC-77441;SHGC-77445;SHGC-84171 CP-2 OTTHUMP00000197026;OTTHUMP00000215840;OTTHUMP00000215841;ceruloplasmin APPROVED protein-coding ENSG00000047457 HGNC:2295 00317 117700;604290 REVIEWED 1313664 CPA2 carboxypeptidase A2 (pancreatic) Three different forms of human pancreatic procarboxypeptidase A have been isolated. The encoded protein represents the A2 form, which is a monomeric protein with different biochemical properties from the A1 and A3 forms. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues and is a secreted protein. [provided by RefSeq, Dec 2008] 7 7 7 q32 124702462 124725405 + 129906703 129929638 + 130266863 130289798 + 1580863;6480464;8554872 10742178;10860668;11743734;12477932;12538893;12948494;15203218;15489334;17196978;19401682;19817500;20379614;21098023;2920728;7896805;8806703;9384570;9450539 1358 J3QT58;P48052 ABBA01057592;AC024085;AK293378;AMYH02016752;BC007009;BC014571;BC015140;BT007403;BX106544;CD613167;CH236950;CH471070;NM_001869;U19977 AAA74425;AAH07009;AAH14571;AAH15140;AAP36067;ABM84737;BAG56890;EAL24092;EAW83751;NP_001860;P48052 Hs.490038 1336786;5125710;7185189 D7S2544;STS-U19977 OTTHUMP00000211315;carboxypeptidase A2 APPROVED protein-coding ENSG00000158516 HGNC:2297 02821 600688 REVIEWED 733833 CPA3 carboxypeptidase A3 (mast cell) Three different forms of human pancreatic procarboxypeptidase A have been isolated. This gene encodes a form which is obtained as a binary complex of a procarboxypeptidase A with proproteinase E and functions as a secretory granule metalloexopeptidase. [provided by RefSeq, Jan 2009] 3 3 3 q24 146993118 147024950 + 148583043 148614874 + 148865256 148897087 + 734812;1580863;6480464;6907045;8554872 12552318 10383164;12477932;14760754;15489334;1629626;1729276;18029348;19643669;2443571;2594780;2708524;2920728;7929294 1359 P15088 ABBA01058950;AC092979;AK313628;AMYH02007879;BC012613;BF508919;BG501260;CH471052;DR005288;M27717;M73720;NM_001870;S40234;XM_006713503 AAA35652;AAA59568;AAB22578;AAH12613;ABM83731;ABM87051;BAG36388;EAW78902;NP_001861;P15088;XP_006713566 Hs.646 1645581;1665335;1743085 G28614;GDB:251824;SHGC-77447 MC-CPA OTTHUMP00000215693;carboxypeptidase a3;mast cell carboxypeptidase A;tissue carboxypeptidase A APPROVED protein-coding ENSG00000163751 HGNC:2298 00270 114851 REVIEWED 1345322 CPA5 carboxypeptidase A5 Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM, Mar 2008] 7 7 7 q32 124780394 124804336 + 129984630 130008571 + 130344790 130368730 + 1580863;6480464 11836249;11920156;12477932;12676894;12853948;14702039;15489334;16344560;17207965;9546821 93979 A4D1M2;C9JRV5;C9JZE9;H7C4Q6;Q8WXQ8 ABBA01057590;AC007938;AF384667;AK093288;AK131191;AK315256;AMYH02016752;AY155228;AY155229;AY155230;BC039362;BC042996;BC053681;BK000187;CH236950;CH471070;DB059130;KF495711;NM_001127441;NM_001127442;NM_080385;XM_005250710;XM_005250711;XM_005250712;XM_006716178;XR_428188 AAH39362;AAH42996;AAL37611;AAO17155;AAO17156;ADQ33032;BAC04122;BAD18389;BAG37675;DAA00035;EAL24090;EAW83754;EAW83755;EAW83756;EAW83757;EAW83758;EAW83759;EAW83760;NP_001120913;NP_001120914;NP_525124;Q8WXQ8;XP_005250767;XP_005250768;XP_005250769;XP_006716241 Hs.567642 FLJ35969 OTTHUMP00000212497;OTTHUMP00000212498;OTTHUMP00000212499;OTTHUMP00000212500;OTTHUMP00000212501;OTTHUMP00000212502 APPROVED protein-coding ENSG00000158525 HGNC:15722 07097 609561 VALIDATED 1345742 CPA4 carboxypeptidase A4 This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and are synthesized as zymogens that are activated by proteolytic cleavage. This gene could be involved in the histone hyperacetylation pathway. It is imprinted and may be a strong candidate gene for prostate cancer aggressiveness. [provided by RefSeq, Jul 2008] 7 7 7 q32 124728740 124759787 + 129932974 129964020 + 130293134 130324180 + 1580863;6480464 10383164;10860668;12477932;12552318;12676894;12690205;12975309;15489334;15738388;16091843;17207965;19245716;20385563;21139048;22294694;23746805 51200 A4D1M3;B7Z5J4;C9J3P4;C9J6N7;C9J7D6;Q9UI42 ABBA01057592;AC024085;AF095719;AK290993;AK298550;AK298553;AK299023;AK310933;AMYH02016752;AY358699;BC052289;BI335735;CH236950;CH471070;DC368360;NG_011788;NM_001163446;NM_016352 AAF23230;AAH52289;AAQ89062;ADQ32909;BAF83682;BAH12812;BAH12813;BAH12930;EAL24091;EAW83752;EAW83753;NP_001156918;NP_057436;Q9UI42 Hs.93764 1339753;1698588;1723257;1766157;2110331;5022322;7185483 CPA4_7257;D11S2560;D7S2519;RH102846;RH122316;SHGC-149533 CPA3 OTTHUMP00000212508;OTTHUMP00000212509;carboxypeptidase A3 APPROVED protein-coding ENSG00000128510 HGNC:15740 07405 607635 REVIEWED 1323390 CPA6 carboxypeptidase A6 The protein encoded by this gene belongs to the family of carboxypeptidases, which catalyze the release of C-terminal amino acid, and have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Polymorphic variants and a reciprocal translocation t(6;8)(q26;q13) involving this gene, have been associated with Duane retraction syndrome.[provided by RefSeq, Sep 2010] 8 8 8 q13.2 64327814 64651850 - 68334405 68658620 - 67422170 67746385 - 1580863;6480464;8699517;7240710;8554872 11836249;12454025;12477932;15489334;18178555;19790060;19913121;20379614;20628086;20855895;21922598;23105115;24290490 57094 F8WAH2;Q8N4T0 ABBA01041900;ABBA01041901;ABBA01041902;ABBA01041903;ABBA01041904;ABBA01041905;AC011037;AC022861;AC022874;AC027006;AF221594;AF466284;AMYH02018136;AMYH02018137;AMYH02018138;AMYH02018139;AMYH02018140;AMYH02018141;AMYH02018142;AY044833;BC033684;BI756197;BK000188;BP421438;CH471068;NG_027682;NM_020361 AAF91231;AAH33684;AAK84941;AAM19307;ABM82969;ABM86163;DAA00037;EAW86937;EAW86938;EAW86939;NP_065094;Q8N4T0 Hs.658850 1339238;1751971;1760869;2123798;2179262;2217186 CPA6_3041;D8S1840;L17726;SHGC-105958;SHGC-144539;SHGC-31209 CPAH;ETL5;FEB11 OTTHUMP00000226992;OTTHUMP00000227057;carboxypeptidase B APPROVED protein-coding ENSG00000165078 HGNC:17245 09891 609562;614417;614418 REVIEWED 1354386 CPAT1 cerebral palsy, ataxic 1 ASSOCIATED WITH Cerebral Palsy, Ataxic, Autosomal Recessive (inferred) 7240710 10854109 60502 1335654;1337281 D9S167;D9S50 HGNC:30998 605388 1347044 CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 CPAMD8 belongs to the complement component-3 (C3; MIM 120700)/alpha-2-macroglobulin (A2M; MIM 103950) family of proteins, which are involved in innate immunity and damage control. Complement components recognize and eliminate pathogens by direct binding or by mediating opsonization/phagocytosis and intracellular killing, and A2M is a broad-spectrum protease inhibitor (Li et al., 2004 [PubMed 15177561]).[supplied by OMIM, Mar 2008] 19 19 19 p13.11 16905293 17039135 - 17003762 17137625 - 16892951 17026815 - 1580863;6480464;8554872 10574462;11696365;12477932;1335692;14702039;15177561;15342556;19010793;19913121;20628086;21139048;22412388 27151 F8W7D1;M0QXH3;M0R0Z5;M0R3G7;Q6NVW5;Q8IZJ3 AB033109;ABBA01051174;ABBA01051175;ABBA01051176;ABBA01051177;AC008737;AC020908;AI670110;AK075099;AK092632;AK124052;AMYH02035690;AMYH02035691;AMYH02035692;AY101765;BC067854;BF726092;BP302427;CA421477;CH471106;KF456517;KF456518;KF511257;NM_015692 AAH67854;AAM50084;BAA86597;BAC11400;EAW84567;EAW84568;EAW84569;NP_056507;Q8IZJ3 Hs.631644 2110389;2120820;2131199;5109281 D1S1425;D7S2816;F2RL3_2451;G29028 FLJ42058;FLJ90618;K-CAP;KIAA1283;VIP C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8;OTTHUMP00000164832;alpha-2 macroglobulin family protein VIP APPROVED protein-coding ENSG00000160111 HGNC:23228 09892 608841 VALIDATED 737246 CPB1 carboxypeptidase B1 (tissue) Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [provided by RefSeq, Jul 2008] 3 3 3 q24 146955960 146988049 + 148508917 148577979 + 148791130 148860192 + 1580863;6480464;8554872 12162965;12477932;1370825;15489334;17398;17673703;18558717;20379614;2307232;2920728;3222247;7505580;8322019;9524066 1360 C9J5C4;C9JUX7;C9JXS3;P15086 ABBA01058950;ABBA01058951;AC024897;AC092979;AJ224866;AK313940;AMYH02007878;AMYH02007879;BC015338;BI770145;BT009910;CH471052;CR749369;M81057;NM_001871;XM_005247124 AAA66973;AAH15338;AAP88912;ABM84632;ABM92164;CAA12163;CAH18222;EAW78903;EAW78904;NP_001862;P15086;XP_005247181 Hs.477891 1659976;2107951;2148446 A002J07;CPB1_8164;STS-M81057 CPB;DKFZp779K1333;PASP;PCPB OTTHUMP00000215657;OTTHUMP00000215669;carboxypeptidase B;carboxypeptidase b1;pancreas-specific protein;pancreatic carboxypeptidase B;procarboxypeptidase B;protaminase;tissue carboxypeptidase B APPROVED protein-coding ENSG00000153002 HGNC:2299 00271 114852 REVIEWED 5130804 CPB2-AS1 CPB2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 13 13 13 27730246 27755686 + 46626983 46675482 + 46052848 46101347 + 8554872 14702039 100509894 ABBA01050982;ABBA01050983;AK095119;AK124928;AL137141;AL157758;AMYH02027983;AMYH02027984;HG505610;HG505611;NG_032893;NR_046226;NR_046227 Hs.626139 1664226;1665153;1719489;1721919;1777842;1788210;1849725;2124089;2177401;5014865;5020948;5022322 D11S2560;D12S1332;D13S1161;G35510;G59992;G67452;RH123464;RH44944;RH78160;SHGC-30919;SHGC-56642;WIAF-1544 RP11-139H14.3 APPROVED ncrna ENSG00000235903 HGNC:39898 VALIDATED 731734 CPB2 carboxypeptidase B2 (plasma) Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 13 13 13 q14.11 27682037 27734241 - 46627201 46695318 - 46053066 46121116 - 1598473;1598476;1598478;1598479;1598474;2313646;2313648;2313645;2313641;2313643;6480464;6907045;7243111;7243112;7243114;7243118;7243119;7243121;7243123;7243117;7243116;7243124;8554872 11836301;12439147;12574207;12624641;14717966;14739223;14983223;15497025;15668188;16123492;16244771;17327284;17911187;17988229;18612543;19056482;19325462;19386599;22768796;22932273 10350473;10651877;10777524;11337467;11410415;11565542;11686321;11686322;11686324;11776333;11786552;11903334;11939578;12006404;12087030;12165290;12362237;12368162;12477932;12595308;12643276;12645517;12799375;12830006;12871455;12876631;12941043;12958613;1427879;14517491;14525995;14715654;15004439;15025077;15057823;15128744;15224354;15333035;15489334;15521922;15543330;15550029;15692247;15719893;15978108;16335952;16441664;16445295;16504676;16540154;16894472;17107352;17138567;17264944;17272741;17388801;17398;17473579;17636471;17644733;17666015;17673703;17690487;17723126;17855631;18021301;18048863;18063813;18075282;18160566;18252711;18341631;18350479;18396157;18406001;18455758;18480982;18513211;18559974;18563448;18612536;18669641;18674955;18683146;18722183;18774564;18836720;18958767;18974842;18986391;19010784;19017260;19038242;19061349;19074424;19195685;19253106;19298343;19335449;19368913;19377074;1939207;19416536;19526059;19578796;19699511;19718465;19850743;19859836;19874466;19895374;19913121;19967152;20088944;20128871;20216989;20237223;20375563;20379614;20381197;20385790;20447686;20490730;20542541;20594598;20627371;20628086;20723026;20729722;20880845;20961395;21041299;21195459;21297448;21467042;21622187;21629966;21708401;21804193;21894805;21988832;22032800;22260642;22353215;22452791;22498006;22740053;22749979;22799880;22931662;22938027;22985614;23140098;23174621;23197299;23256818;23327722;23572161;23595589;23624357;23750785;24252537;24354489;2920728;8662763;8663147;8975730;9869166 1361 Q96IY4 AA700377;AB011969;ABBA01050982;ABBA01050983;AF080222;AF080223;AK290829;AL137141;AL157758;AMYH02027983;AMYH02027984;AU100156;AV719308;AY714780;BC007057;BT006936;CH471075;M75106;NG_032893;NM_001278541;NM_001872;XM_005266257;XM_005266258;XM_005266259 AAA60042;AAH07057;AAP35582;AAT97987;ABM92184;ABW03279;BAA90475;BAF83518;EAX08754;EAX08755;NP_001265470;NP_001863;Q96IY4;XP_005266314;XP_005266315;XP_005266316 Hs.512937 1664226;1665153;1719489;1721919;1777842;1788210;1849725;2177401;2217188 CPB2_3955;D13S1161;G59992;G67452;RH123464;RH78160;SHGC-30919;SHGC-56642;WIAF-1544 CPU;PCPB;TAFI OTTHUMP00000018364;OTTHUMP00000018365;carboxypeptidase B-like protein;carboxypeptidase B2;carboxypeptidase B2 (plasma, carboxypeptidase U);carboxypeptidase R;carboxypeptidase U;plasma carboxypeptidase B;thrombin-activable fibrinolysis inhibitor;thrombin-activatable fibrinolysis inhibitor APPROVED protein-coding ENSG00000080618 HGNC:2300 04374 603101 REVIEWED 732381 CPE carboxypeptidase E This gene encodes a carboxypeptidase that cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. It is a peripheral membrane protein. The protein specifically binds regulated secretory pathway proteins, including prohormones, but not constitutively secreted proteins. Mutations in this gene are implicated in type II diabetes. [provided by RefSeq, Jul 2008] 4 4 4 q32.3 163635528 163754911 + 166300097 166419482 + 165378945 165498330 + 728242;704405;1580863;1626182;1357926;1626183;1626184;1626181;6480464;6483325;6907045;8554872 11462236;11874690;12530526;18570185;2334405;7663508;9662053 10966857;11373325;11375130;12270926;12417617;12477932;12479974;14690244;14702039;15489334;15492986;15664176;16169070;17957445;18080843;18501121;18550819;19077438;19120309;19166515;19491387;19593212;19913121;20201924;20368287;20379614;20468064;20628086;21061162;21285511;21628999;21906983;22824791;22998035;23852859;24006921;24843127;6808517;7477119;7790890;8449522;8674818;8770919;8864828;9019408;9197538;9275097;9369230;9815277 1363 C9JE88;D6R930;D6RF88;H0YAM0;P16870 AB006898;ABBA01070291;ABBA01070292;ABBA01070293;ABBA01070294;ABBA01070295;AC012504;AI340177;AK090962;AK127165;AK290996;AK294175;AMYH02010441;BC033866;BC053612;BM271829;CH471056;NM_001873;X51405 AAH33866;AAH53612;ABM84248;ABM87636;BAA86053;BAF83685;BAG52254;BAG54445;BAG57495;CAA35767;EAX04817;EAX04818;EAX04819;NP_001864;P16870 Hs.75360 1645826;1666168;1678703;1681863;1690740;1794068;2123069;2138777;2141137;2165624;2166533;5022584;5093288 A009K44;D4S2566E;G32630;PMC310777P5;RH17550;RH71193;RH71421;SHGC-12636;SHGC-34066;SHGC-50820;SHGC-59750;SHGC4-1788;STS-H56546 CPH OTTHUMP00000196776;carboxypeptidase H;cobalt-stimulated chromaffin granule carboxypeptidase;enkephalin convertase;insulin granule-associated carboxypeptidase;prohormone-processing carboxypeptidase 1643249;2289317;2289563 BW135_H;BW379_H;BW441_H APPROVED protein-coding ENSG00000109472 HGNC:2303 00272 114855 REVIEWED 731463 CPD carboxypeptidase D The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 25567489 25657199 + 28705942 28796675 + 30378924 30469657 + 1580863;6480464;8554872 11306718;12417617;12477932;12643288;12754519;15489334;15918796;17255364;17641957;18535109;19199708;19322201;19946888;20682791;21139048;21628999;21906983;21963094;21988832;22268729;22354994;22505724;22902628;23246001;23589395;24337577;24615730;24639526;8619474;9064476;9355738;9490632;9628828;9714835;9815277 1362 J3QQJ4;J3QRJ9;K7ELF0;O75976 ABBA01015001;AC006050;AC090685;AK302497;AK302878;AK316409;AL049339;AMYH02033271;AMYH02033272;AMYH02033273;BC020457;BC045549;BC045624;BC051702;BC054116;CA436219;CH471159;D85390;NM_001199775;NM_001304;U65090;U90914 AAC51775;AAH45549;AAH45624;AAH51702;BAA33370;BAH13725;BAH13829;BAH14780;EAW51227;EAW51228;NP_001186704;NP_001295;O75976 Hs.446079 1659624;1675720;1680681;1701238;1777415;1797434;1848808;2111178;2141780;5021349 A001U18;CPD_1887;D17S2004;D17S2009;D17S962E;MARC_23481-23482:1027350718:1;RH104247;RH11489;RH47227;STS-H01467 GP180 OTTHUMP00000163684;metallocarboxypeptidase D APPROVED protein-coding ENSG00000108582 HGNC:2301 04375 603102 REVIEWED 1316707 CPEB2 cytoplasmic polyadenylation element binding protein 2 The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 4 4 4 p15.33 15469162 15536022 + 15004298 15071777 + 15002674 15070153 + 6480464;8554872 12477932;12672660;14702039;15489334;18752464 132864 H0Y9D9;J3KN18;Q7Z5Q1 ABBA01032565;ABBA01032566;AC098829;AC105289;AC114749;AK094566;AMYH02008795;AY247744;AY255519;BC103939;BC103940;BC103941;BC103942;BC105925;BI857384;BU854092;BX640753;CH471069;NM_001177381;NM_001177382;NM_001177383;NM_001177384;NM_182485;NM_182646;XM_005248135;XR_427486 AAI03940;AAI03941;AAI03942;AAI03943;AAI05926;AAP37585;AAP41553;CAE45860;EAW92727;EAW92728;EAW92729;EAW92730;NP_001170852;NP_001170853;NP_001170854;NP_001170855;NP_872291;NP_872587;Q7Z5Q1;XP_005248192 Hs.656937 1645093;1720847;2106463;2124562;2129675;2149406;2153610;2190955 CPEB2_4624;G34337;G59401;MARC_12073-12074:1004623170:1;SHGC-67263;SHGC-67785;SHGC-67966;WI-14109 CPE-BP2;CPEB-2;MGC119575;MGC119576;MGC119577;hCPEB-2 CPE-binding protein 2;OTTHUMP00000115833;OTTHUMP00000115834;OTTHUMP00000217612;OTTHUMP00000217613;OTTHUMP00000217614;cytoplasmic polyadenylation element-binding protein 2 APPROVED protein-coding ENSG00000137449 HGNC:21745 16744 610605 REVIEWED 7267116 CPEB2-AS1 CPEB2 antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 4 p15.33 15468237 15468828 - 14911585 15003669 - 14909961 15002045 - 8554872 12477932;14702039;16344560 441009 ABBA01032561;ABBA01032562;ABBA01032563;ABBA01032564;ABBA01032565;AC105289;AC134620;AK093257;AMYH02008794;AMYH02008795;BC039114;BC044764;BC047127;BC113724;BC113726;DB058059;DB089460;HC007118;HG496756;NR_038857 CBH19364 Hs.535004 AC006296.3 ncrna ENSG00000247624 HGNC:49082 VALIDATED 1321314 CPEB1 cytoplasmic polyadenylation element binding protein 1 This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 15 15 15 q25.2 61263397 61367744 + 83211948 83316762 - 82543198 82648016 - 1580863;6480464 11223249;11433366;12477932;12629046;14702039;15489334;15731006;15966895;16344560;17207965;18752464;18923137;19141477;19161537;20062064;20144904;20339377;21478871;21832049;21988832;22052064;22253608;22334078;22456264;22727665;23178487;23434754;23446545;23500490;23776146;23788032;23892092;24141422;9847074 64506 B4DWY2;H3BNX1;H3BPD6;H3BTE4;Q9BZB8 ABBA01029417;ABBA01029418;AC010724;AC105339;AC110291;AC245033;AF329402;AF329403;AK023265;AK294280;AK300105;AK301728;AL832156;AMYH02030910;BC035348;BC050629;BM715948;BX649159;CH471188;DA340952;DA705313;HY007452;HY191346;NM_001079533;NM_001079534;NM_001079535;NM_001288819;NM_001288820;NM_030594;XM_006720636;XM_006720637 AAH35348;AAH50629;AAK01239;AAK01240;ADQ32841;BAB14496;BAG63194;BAH11723;BAH13212;EAW62448;EAW62449;EAW62450;EAW62451;EAW62452;NP_001073001;NP_001073002;NP_001073003;NP_001275748;NP_001275749;NP_085097;Q9BZB8;XP_006720699;XP_006720700 Hs.459132;Hs.547988 1703350;1751719 SHGC-105754;SHGC-68593 CEBP;CPE-BP1;CPEB;CPEB-1;FLJ13203;MGC34136;MGC60106;h-CEBP;hCPEB-1 CPE-binding protein 1;cytoplasmic polyadenylation element-binding protein 1 APPROVED protein-coding ENSG00000214575 HGNC:21744 09553 607342 REVIEWED 1323642 CPEB4 cytoplasmic polyadenylation element binding protein 4 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cellular response to amino acid stimulus (ortholog); cellular response to decreased oxygen levels (ortholog); cellular response to glucose starvation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; dendrite (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 5 5 5 q21 169347869 169419849 + 173315331 173387313 + 173888328 173960310 + 1580863;6480464;8554872 11214970;12477932;12672660;15489334;19913121;20601676;20628086;20935629;21102463;22138752;22210626;22939629;23128233;23145039;23251661;24045092;24255178;24457600 80315 B7ZLQ8;E5RFP2;E5RJM0;H0YBG1;Q17RY0 AB051460;ABBA01044016;AC093275;AK310905;AMYH02012784;BC036899;BC117150;BC143958;BC143959;BX538213;CH471062;NM_030627;XM_005265994;XM_005265995;XM_005265996 AAH36899;AAI17151;AAI43959;AAI43960;ADR83112;BAB21764;CAD98072;EAW61389;EAW61390;EAW61391;EAW61392;EAW61393;NP_085130;Q17RY0;XP_005266051;XP_005266052;XP_005266053 Hs.127126 1670555;1674466;1686320;1749603;1780558;2136347;2158152;2165482;2178695;5094800 AAT013;G16920;G16921;RH45640;RH93220;SHGC-111286;STS-H71226;STS-H95340;WI-14103;bac51093T KIAA1673 CPE-BP4;CPE-binding protein 4;OTTHUMP00000161102;OTTHUMP00000223638;OTTHUMP00000223639;OTTHUMP00000223640;OTTHUMP00000223641;OTTHUMP00000223642;cytoplasmic polyadenylation element-binding protein 4;hCPEB-4 protein-coding ENSG00000113742 HGNC:21747 16746 610607 VALIDATED 1348549 CPEB3 cytoplasmic polyadenylation element binding protein 3 ENCODES a protein that exhibits mRNA 3'-UTR binding; poly(A) RNA binding; RNA binding; INVOLVED IN 3'-UTR-mediated mRNA destabilization; cellular response to amino acid stimulus; negative regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN CCR4-NOT complex; cytoplasm; neuron projection; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 10 10 10 q23.32 87552931 87795403 - 93806452 94050875 - 92048636 92291118 - 6480464;8554872 10231032;12477932;12672660;15164054;15489334;16344560;16385451;16990549;19503753;20379614;20524672;21336257;22711986 22849 B3KXC1;Q5QP71;Q8NE35 AB023157;ABBA01021914;ABBA01021915;ABBA01021916;ABBA01021917;ABBA01021918;ABBA01021919;AK127060;AK302576;AL158040;AL365398;AMYH02023527;AMYH02023528;AMYH02023529;AMYH02023530;AMYH02023531;AMYH02023532;AMYH02023533;BC036444;BU785463;CH471066;DA697430;DB029361;KF455274;NM_001178137;NM_014912;XM_005269630;XM_006717714;XM_006717715;XM_006717716;XM_006717717;XM_006717718 AAH36444;ABM87628;ABW03915;BAA76784;BAG54433;BAH13751;EAW50097;EAW50098;NP_001171608;NP_055727;Q8NE35;XP_005269687;XP_006717777;XP_006717778;XP_006717779;XP_006717780;XP_006717781 Hs.131683;Hs.701732 1678743;1699880;1718533;1724347;1781882;1792946;1794970;2143903;2155899;2157287 G17554;PMC170964P2;PMC86556P1;RH103548;RH119096;RH122468;RH12541;RH44287;SHGC-106170;SHGC-30793 CPE-BP3;CPE-binding protein 3;OTTHUMP00000020094;OTTHUMP00000020095;cytoplasmic polyadenylation element-binding protein 3;hCPEB-3 protein-coding ENSG00000107864 HGNC:21746 16745 610606 VALIDATED 1347113 CPHL1P ceruloplasmin and hephaestin-like 1 pseudogene 3 3 3 q25.1 147369659 147403901 - 148959149 148993394 - 149241362 149275607 - 11329013;16543943;22589738 389160 ABBA01058946;AC093001;AMYH02007884;NG_022938 1784798 SHGC-155148 CPHL1 APPROVED pseudo HGNC:31714 INFERRED 1605333 CPED1 cadherin-like and PC-esterase domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4',5-pentachlorobiphenyl; all-trans-retinoic acid 7 7 7 q31.31 115438272 115746685 + 120628751 120937498 + 120988697 121297444 + 6480464;8554872 11076863;11230166;11256614;12477932;12853948;12975309;14702039;15489336;16341674;16381901;20031566;20056006;20082467;20379614;21906983;22504420;22792070;7829101;8125298 79974 A4D0V7;E7ENG7;E9PCC8;G5E9U2;H0YB19;Q5MJQ4;Q9H6Q5 ABBA01057761;ABBA01057762;ABBA01057763;ABBA01057764;AC004537;AC006364;AC006976;AC073145;AK025639;AK055624;AK130323;AK225313;AK289978;AL832619;AL832638;AMYH02016661;AMYH02016662;AMYH02016663;AMYH02016664;AMYH02016665;AMYH02016666;AY358220;AY780785;BC017764;BC018685;BC030538;BC046360;BI496654;BQ082412;CH236947;CH471070;KF458584;NM_001105533;NM_024913 A4D0V7;AAH30538;AAH46360;AAQ88587;AAS02027;AAV98355;BAB15198;BAB70974;BAF82667;CAD89953;CAD89961;CAL37422;EAL24348;EAW83550;EAW83551;EAW83552;EAW83553;EAW83554;EAW83555;NP_001099003;NP_079189 Hs.189652 1340302;1686732;1707488;1710944;1752773;1764681;1851032;2141155;2148734;2172095;2182149;7187638 D7S1470;D7S1649;D7S1668;D7S643;GDB:1317304;RH78359;RH79960;SHGC-106523;SHGC-148273;SHGC-84445;SHGC-84541 C7orf58;FLJ21986;FLJ26813 OTTHUMP00000211230;OTTHUMP00000211231;OTTHUMP00000211233;OTTHUMP00000225669;cadherin-like and PC-esterase domain-containing protein 1;hypothetical protein LOC79974;uncharacterized protein C7orf58 APPROVED protein-coding ENSG00000106034 HGNC:26159 08647 VALIDATED 1344427 CPL1 ceruloplasmin-like 1 3436225 1367 HGNC:2308 735999 CPLX1 complexin 1 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 715373 756500 - 778745 819945 - 784957 826157 - 70701;1580863;6480464 7553862 10051208;10449403;11483314;11832227;12058476;12082566;12200427;12477932;15217342;15489334;15526345;16442780;16722236;16794037;18240322;20201926;21565611;21697133;21785412;21785414;22705946;22939629;24722188;7654227;9853440 10815 D6RAG3;D6RI11;O14810 AB593095;ABBA01019341;ABBA01019342;AC139887;AF022383;AK126578;AK311921;AMYH02008561;BC002471;BT007029;CH471131;KJ534815;NM_006651 AAB72108;AAH02471;AAP35676;AHW56455;BAG34862;BAJ84035;EAW82647;EAW82648;EAW82649;NP_006642;O14810 Hs.478930 2109185;2141682;2182076;2182425 CPLX1_9185;D4S1270;RH18288;RH78792 CPX I;CPX-I;CPX1 OTTHUMP00000217327;OTTHUMP00000217328;OTTHUMP00000217329;complexin I;complexin-1;synaphin 2;synaphin-2 APPROVED protein-coding ENSG00000168993 HGNC:2309 09233 605032 REVIEWED 732283 CPLX2 complexin 2 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q35.2 171262673 171350105 + 175223542 175311024 + 175796539 175884021 + 70701;734813;6480464;8554872 11163241;7553862 10051208;10430466;10449403;10777504;11483314;11576753;11751907;12058476;12082566;12200427;12477932;12807877;14702039;15217342;15489334;15653259;15906159;16131404;16162394;16442780;18240322;19851296;20198315;20379614;20819981;21832049;23251661;23527680;605033;8824312;9853440 10814 D6R960;D6RBA5;D6RDN3;D6RGY3;D6RI05;Q6PUV4 ABBA01043986;ABBA01043987;ABBA01043988;ABBA01043989;AC010241;AC018760;AC138965;AK055043;AK094266;AK124837;AK126590;AK293819;AK314177;AL512758;AL707430;AMYH02012806;AMYH02012807;AY576870;BC039560;BC052974;BC065485;BC093706;BC112287;BI197868;BN000499;BN000500;CH471062;NM_001008220;NM_006650;U35100;XM_005265798;XM_005265799;Y15167 AAC50229;AAH93706;AAI12288;AAS93622;BAG36859;BAG57224;CAG26663;CAG26664;EAW61366;EAW61367;NP_001008221;NP_006641;Q6PUV4;XP_005265855;XP_005265856 Hs.193235 1703616;1730149;1740485;1787772;2109187;2117084;2162953;2166348;2181129;5493115 CPLX2_9184;D5S1615E;D5S2279E;D5S446E;RH18041;SGC30041;SGC31663;SHGC-173139;SHGC-78708;UniSTS:484355 921-L;CPX II;CPX-2;CPX2;Hfb1;MGC138492 OTTHUMP00000161249;OTTHUMP00000223286;OTTHUMP00000223289;OTTHUMP00000223290;OTTHUMP00000223291;OTTHUMP00000223293;complexin II;complexin-2;synaphin 1;synaphin-1 APPROVED protein-coding ENSG00000145920 HGNC:2310 09234 605033 REVIEWED 1604870 CPLX3 complexin 3 ENCODES a protein that exhibits neurotransmitter transporter activity (inferred); syntaxin binding (inferred); INVOLVED IN insulin secretion (inferred); regulation of neurotransmitter secretion (inferred); synaptic vesicle exocytosis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction (inferred); cytosol (inferred); plasma membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol; all-trans-retinoic acid; atrazine 15 15 15 q24.1 52068980 52074165 + 75118951 75124136 + 74826610 74831795 + 6480464;8554872 12477932;12934113;14702039;15911881;19430483;21490707;21785413;21876539 594855 Q8WVH0 AB072900;ABBA01060505;AC091230;AK024055;AMYH02030798;AU253913;AY286501;BC018026;CH471136;NM_001030005 AAH18026;AAP41127;BAB14805;BAE45711;EAW99306;EAW99307;NP_001025176;Q8WVH0 Hs.187694 1689588;1698780;1711418;1757957;1789082 G42193;G65676;RH102953;RH92882;SHGC-146938 CPX-III;CPXIII;DKFZp434E1719;FLJ00167;FLJ00250;FLJ13993;Nbla11589 CPX III;OTTHUMP00000183475;complexin III;complexin-3 protein-coding ENSG00000213578 HGNC:27652 609585 VALIDATED 1316951 CPLX4 complexin 4 This gene likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle exocytosis. [provided by RefSeq, Jan 2009] 18 18 18 q21.32 53680459 53703698 - 56962634 56985881 - 59295402 59318649 - 1580863;6480464 12477932;14702039;15489334;15911881;21697133;8889548 339302 K7EM04;Q7Z7G2 AB593158;ABBA01056167;AC067859;AK123184;AMYH02034827;AY286502;BC065562;BC106886;BC106887;BC106888;BM661846;BX640655;BX648518;CH471096;NM_181654 AAI06888;AAI06889;AAP41128;ACE86605;ACE87286;BAC85549;BAJ84090;CAE45797;EAW63094;EAW63095;NP_857637;Q7Z7G2 Hs.449884 CPX IV;CPX-IV;CPXIV;DKFZp686A0185;DKFZp686O0683;FLJ41190;MGC125769;MGC125783;MGC125784 OTTHUMP00000163642;complexin IV;complexin-4 APPROVED protein-coding ENSG00000166569 HGNC:24330 13091 609586 REVIEWED 1321490 CPM carboxypeptidase M The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q14.3 68908769 69020812 - 69244955 69357020 - 68851175 68963240 - 1580863;6480464;7401223 16177542 10222261;10426564;10849748;11147789;11375929;11444929;11891060;11934264;12457462;12477932;1431901;14517339;15066430;15489334;16344560;16602701;18029348;18187413;18292211;19322201;19581412;19820690;20360068;20673876;21454694;22157720;23172796;24108126;2753907;2914904;7615511;7620164;7797563;8338689;8586455;8635221;8796265;8889548;9701794 1368 F8VR29;F8VU13;F8VVI6;F8W111;H0YHG6;H0YHN7;P14384 ABBA01026549;ABBA01026550;AC025423;AC133749;AF262947;AF368463;AI524542;AK127859;AK130146;AK313180;AMYH02026702;AMYH02026703;AMYH02026704;AU106031;BC016943;BC022276;BG677445;BM049082;BQ181238;BQ431065;BQ706414;BQ773666;CB241489;CB959900;CB989009;CB993834;CD109360;DA205368;DA831499;DA833423;DB006895;J04970;NM_001005502;NM_001874;NM_198320;XM_005268653 AAA35651;AAG47641;AAH22276;AAK69717;ABM84045;ABM87391;BAG35997;NP_001005502;NP_001865;NP_938079;P14384;XP_005268710 Hs.654387 1337159;1661991;1681296;1739715;1746477;1777718;2184651;5015959;5015961;5016596;5022200;5022322;5037552;5037554;5109281 D10S2448;D11S2560;D12S1501;D15S1477;D1S1425;D8S2279;D8S2282;DXS8011;G64384;GDB:631802;L18426;RH44527;RH44674;RH98659;STS-J04970 OTTHUMP00000240713;OTTHUMP00000240714;OTTHUMP00000240715;renal carboxypeptidase;urinary carboxypeptidase B APPROVED protein-coding ENSG00000135678 HGNC:2311 00273 114860 REVIEWED 734334 CPN1 carboxypeptidase N, polypeptide 1 Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008] 10 10 10 q24.2 95540028 95579610 - 101802065 101841642 - 100042308 100081885 - 1580863;6480464;7240710;7401223;8554872;8699517 16177542 10878383;11939578;12477932;12560874;12725295;14687935;15489334;15718415;16385451;18039526;18624398;18940312;19010784;20200978;20648472;20881960;21052031;22001757;22504420;23000409;2610070;2912725;3408501;8267877;9628828 1369 B1AP58;P15169 ABBA01063233;ABBA01063234;ABBA01063235;ABBA01063236;AK313972;AL441886;AMYH02023650;AW950687;BC027897;CH471066;NG_012060;NM_001308;X14329 AAH27897;ABM82977;ABM86170;ABM86171;BAG36687;CAA32507;EAW49848;NP_001299;P15169 Hs.2246 1846791 RH71275 CPN;FLJ40792;SCPN OTTHUMP00000020269;anaphylatoxin inactivator;arginine carboxypeptidase;carboxypeptidase K;carboxypeptidase N catalytic chain;carboxypeptidase N catalytic subunit;carboxypeptidase N polypeptide 1 50 kD;carboxypeptidase N small subunit;carboxypeptidase n, polypeptide 1, 50kd;kininase I;kininase-1;lysine carboxypeptidase;plasma carboxypeptidase B;serum carboxypeptidase N APPROVED protein-coding ENSG00000120054 HGNC:2312 09120 212070;603103 REVIEWED 1346122 CPN2 carboxypeptidase N, polypeptide 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN blood microparticle; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; aflatoxin B1; copper(2+) sulfate 3 3 3 q29 192475891 192487060 - 194060494 194072063 - 194339765 194351335 - 1580863;6480464;8554872 12477932;14687935;14760718;15489334;16335952;18029348;18976975;21052031;21145461;2378615;3408501;9628828 1370 P22792 ABBA01001629;AC125362;AC174158;AMYH02008450;AMYH02008451;BC031569;BC042334;BC137398;BC137403;BX951477;CS300516;J05158;NM_001080513;NM_001291988;XM_005269280;XM_005269281 AAA51921;AAH31569;AAH42334;AAI37399;AAI37404;CAK32180;NP_001073982;NP_001278917;P22792;XP_005269337;XP_005269338 Hs.528368 1767860;2125878;5014599 D3S4184;SHGC-12402;STS-J05158 ACBP OTTHUMP00000209122;OTTHUMP00000209123;arginine carboxypeptidase;arginine carboxypeptidase (carboxypeptidase N);carboxypeptidase N 83 kDa chain;carboxypeptidase N large subunit;carboxypeptidase N regulatory subunit;carboxypeptidase N subunit 2;carboxypeptidase N, polypeptide 2, 83kD protein-coding ENSG00000178772 HGNC:2313 11928 603104 VALIDATED 1319355 CPNE2 copine II Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. [provided by RefSeq, Jul 2008] 16 16 16 q13 41626325 41681691 + 57126455 57182281 + 57092543 57147966 + 6480464;8554872 12477932;12522145;12949241;14702039;15146197;15489334;20098747;20381070;21044950;21139048;21145461;21890473;21900206;22939629;23000965;23824909;8889548;9430674 221184 H3BPR8;H3BQQ3;H3BUC8;Q96FN4 ABBA01025262;AC009090;AF492484;AK094867;AK126138;AK292269;AK315394;AMYH02032099;AMYH02032100;AMYH02032101;BC053658;BG830959;BG831872;CB306539;CH471092;CN283840;CR749617;DB504175;NM_152727;XR_243398 AAH53658;AAO85483;BAF84958;BAG37787;CAH18411;EAW82903;NP_689940;Q96FN4 Hs.339809;Hs.736510 1649468;1675315;2129778;2218420 CPNE2_4625;RH64876;SHGC-61122;STS-F03992 COPN2;CPN2;DKFZp686E06199;MGC16924 OTTHUMP00000164676;copine-2 APPROVED protein-coding ENSG00000140848 HGNC:2315 05015 604206 REVIEWED 1322452 CPNE1 copine I Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008] 20 20 20 q11.22 30962261 31001142 - 34213953 34252878 - 35626031 35664956 - 1580863;6480464;8554872 10534407;11780052;12477932;12522145;12949241;14674885;15489334;16341674;16344560;16806233;17620599;17643375;18029348;18523666;18831769;19615732;19738201;21139048;21252943;21890473;21906983;21963094;21987572;21988832;22505724;22939629;22990118;23824909;24250222;9430674 8904 A6PVH9;B0QZ18;E7ENH5;E7EV27;F2Z2V0;H0Y524;Q5JX44;Q5JX45;Q5JX52;Q5JX53;Q5JX54;Q5JX55;Q5JX56;Q5JX57;Q5JX58;Q5JX59;Q5JX60;Q5JX61;Q99829 AB209827;ABBA01019152;AF314092;AI075146;AK308795;AL109827;AMYH02037005;AW964878;BC001142;BC021010;BG231745;BG701713;BI825962;BI917584;BM755522;BQ433414;CH471077;CR456790;DA983782;DB091531;NM_001198863;NM_003915;NM_152925;NM_152926;NM_152927;NM_152928;NR_037188;U83246 AAC15920;AAG49297;AAH01142;BAD93064;CAG33071;CAI20120;CAI20122;CAI20123;CAI20124;CAI20125;CAI20126;CAI20127;CAI20128;CAI20129;CAI20130;CAI20131;CAI20132;CAI20133;EAW76173;EAW76174;EAW76175;EAW76176;EAW76177;EAW76178;EAW76179;EAW76183;EAW76185;EAW76186;EAW76187;EAW76189;EAW76190;NP_001185792;NP_003906;NP_690902;NP_690903;NP_690904;NP_690905;Q99829 Hs.246413;Hs.700188 1653389;1666376;1754105;1760243;1772220;1801110;1801228;1801304;1801690;1801806;1802280;1802940;1803586;1803864;1804670;1805762;1806228;1806738;1807260;1807726;1807874;1808078;1810310;1810660;1813442;1813860;1817536;1817640;1819552;1822772;1827778;1828206;1828740;1830730;1831912;1832550;1833616;1836380;1836506;1836800;1836896;1839134;1840934;1841596;1842376;1845134;1849846;1975200;1975202;1975204;1975206;1975208;1975210;1975212;1975214;1975216;1975218;1975220;1975222;1975224;1975226;1975228;1975230;1975232;1975234;1975236;1975238;1975240;1975242;1975244;1975246;1975248;1975250;1975252;1975254;1975256;1975258;1975260;1975262;1975264;1975266;1975268;1975270;1975272;1975274;1975276;1975278;1975280;1975282;1975284;1975286;1975288;1975290;1975292;1975294;1975296;1975298;1975300;1975302;1975304;1975306;1975308;1975310;1975312;1975314;1975316;1975318;1975320;1975322;1975324;1975326;1975328;1975330;1975332;1975334;1975336;1975338;1975340;1975342;1975344;1975346;1975348;1975350;1975352;1975354;1975356;1975358;1975360;1975362;1975364;1975366;1975368;1975370;1975372;1975374;1975376;1975378;1975380;1975382;1975384;1975386;1975388;1975390;1975392;1975394;1975396;1975398;1975400;1975402;1975404;1975406;1975408;1975410;1975412;1975414;1975416;1975418;1975420;1975422;1975424;1975426;1975428;1975430;1975432;1975434;1975436;1975438;1975440;1975442;1975444;1975446;1975448;1975450;1975452;1975454;1975456;1975458;1975460;1975462;1975464;1975466;1975468;1975470;1975472;1975474;1975476;1975478;1975480;1975482;1975484;1975486;1975488;1975490;1975492;1975494;1975496;1975498;1975500;1975502;1975504;1975506;1975508;1975510;1975512;1975514;1975516;1975518;1975520;1975522;1975524;1975526;1975528;1975530;1975532;1975534;1975536;1975538;1975540;1975542;1975544;1975546;1975548;2109189;2124933;2147153;2158452;2161821;2172311;2215504;2215506;2215508;2215510;2215512;2215514;2215516;2215518;2215520;2215522;2215524;2215526;2215528;2215530;2215532;2215534;2215536;2215538;2215540;2215542;2215552;2215554;2215556;2215558;2215560;2215562;2215564;2215566;2215568;2215570;2215572 A001V32;A002R21;A007E38;AL030971;CPNE1_8873;D20S1111;ECD01424;ECD01486;ECD01524;ECD01724;ECD01784;ECD02024;ECD02360;ECD02695;ECD02844;ECD03267;ECD03832;ECD04069;ECD04327;ECD04598;ECD04836;ECD04912;ECD05017;ECD06147;ECD06324;ECD07742;ECD07956;ECD09818;ECD09872;ECD10843;ECD12474;ECD15011;ECD15228;ECD15497;ECD16501;ECD17094;ECD17415;ECD17953;ECD19352;ECD19416;ECD19564;ECD19612;ECD20746;ECD21660;ECD21995;ECD22391;ECD23784;REN58486;REN58487;REN58488;REN58489;REN58490;REN58491;REN58492;REN58493;REN58494;REN58495;REN58496;REN58497;REN58498;REN58499;REN58500;REN58501;REN58502;REN58503;REN58504;REN58505;REN58506;REN58507;REN58508;REN58509;REN58510;REN58511;REN58512;REN58513;REN58514;REN58515;REN58516;REN58517;REN58518;REN58519;REN58520;REN58521;REN58522;REN58523;REN58524;REN58525;REN58526;REN58527;REN58528;REN58529;REN58530;REN58531;REN58532;REN58533;REN58534;REN58535;REN58536;REN58537;REN58538;REN58539;REN58540;REN58541;REN58542;REN58543;REN58544;REN58545;REN58546;REN58547;REN58548;REN58549;REN58550;REN58551;REN58552;REN58553;REN58554;REN58555;REN58556;REN58557;REN58558;REN58559;REN58560;REN58561;REN58562;REN58563;REN58564;REN58565;REN58566;REN58567;REN58568;REN58569;REN58570;REN58571;REN58572;REN58573;REN58574;REN58575;REN58576;REN58577;REN58578;REN58579;REN58580;REN58581;REN58582;REN58583;REN58584;REN58585;REN58586;REN58587;REN58588;REN58589;REN58590;REN58591;REN58592;REN58593;REN58594;REN58595;REN58596;REN58597;REN58598;REN58599;REN58600;REN58601;REN58602;REN58603;REN58604;REN58605;REN58606;REN58607;REN58608;REN58609;REN58610;REN58611;REN58612;REN58613;REN58614;REN58615;REN58616;REN58617;REN58618;REN58619;REN58620;REN58621;REN58622;REN58623;REN58624;REN58625;REN58626;REN58627;REN58628;REN58629;REN58630;REN58631;REN58632;REN58633;REN58634;REN58635;REN58636;REN58637;REN58638;REN58639;REN58640;REN58641;REN58642;REN58643;REN58644;REN58645;REN58646;REN58647;REN58648;REN58649;REN58650;REN58651;REN58652;REN58653;REN58654;REN58655;REN58656;REN58657;REN58658;REN58659;REN58660;RH66098;SGC31802;SHGC-132138;SHGC-132544;SHGC-35711;WI-14831;stSG636747;stSG636748;stSG636749;stSG636750;stSG636751;stSG636752;stSG636753;stSG636754;stSG636755;stSG636756;stSG636757;stSG636758;stSG636759;stSG636760;stSG636761;stSG636762;stSG636763;stSG636764;stSG636765;stSG636766;stSG636771;stSG636772;stSG636773;stSG636774;stSG636775;stSG636776;stSG636777;stSG636778;stSG636779;stSG636780;stSG636781 COPN1;CPN1;MGC1142 OTTHUMP00000030775;OTTHUMP00000030776;OTTHUMP00000030778;OTTHUMP00000030784;OTTHUMP00000196688;OTTHUMP00000199602;OTTHUMP00000204169;copine-1 APPROVED protein-coding ENSG00000214078 HGNC:2314 05014 604205 REVIEWED 1318850 CPNE4 copine IV This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 3 3 3 q22.1 129679587 130180523 - 131252413 131759152 - 131533560 132039606 - 6480464;8554872 12477932;12522145;12670487;14702039;15489334;20379614;21507922;22959728;23202439;9430674 131034 B7Z370;D6RCT2;D6RFY4;D6RI99;Q4G168;Q96A23 ABBA01059191;ABBA01059192;ABBA01059193;ABBA01059194;AC021659;AC055754;AC076961;AC107027;AC135002;AC136276;AF465770;AF465771;AK056175;AK128117;AK295557;AMYH02007674;AMYH02007675;AMYH02007676;AMYH02007677;AMYH02007678;AMYH02007679;AMYH02007680;BC014396;BC028613;BC075046;BM930746;CH471052;DA156722;DA194161;DC330179;DR978195;NM_001289112;NM_130808;NM_153429;XM_005247107 AAH14396;AAH28613;AAH75046;AAL74190;AAL74191;ABM84415;ABM87414;BAB71111;BAH12106;EAW79206;EAW79207;NP_001276041;NP_570720;NP_702907;Q96A23;XP_005247164 Hs.199877 1338641;1340665;1342364;1652383;1682349;1691088;1707926;1719937;1733514;1749083;1752055;1760203;1762907;1763883;1784682;2133573;2161741;2165451;2218422;5092746;5105989;7184419 A005X07;CPNE4_4626;D3S1292;D3S1541;D3S2351;D3S3108;D3S3331;D3S3514;D3S4116;G32303;RH123946;RH28515;RH92270;SHGC-106010;SHGC-110742;SHGC-132484;SHGC-144886;SHGC-145751;SHGC-146663;SHGC-147551;SHGC-82216 COPN4;CPN4;MGC15604 OTTHUMP00000216033;OTTHUMP00000216178;OTTHUMP00000216179;OTTHUMP00000216180;copine 8;copine-4;copine-8 APPROVED protein-coding ENSG00000196353 HGNC:2317 05017 604208 REVIEWED 1320926 CPNE3 copine III Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008] 8 8 8 q21.3 83721201 83768282 + 87526656 87573726 + 86514427 86561498 + 1580863;6480464;8554872 11041869;12477932;12949241;14702039;15489334;16169070;16344560;18264096;19056867;19322201;19615732;20010870;21044950;21139048;21890473;21906983;21963094;22939629;23000965;23062752;23125841;23713811;23752268;24816145;9430674;9734811 8895 E5RFT7;E5RHZ0;H0YB26;O75131;Q05DL8 AB014536;ABBA01037363;ABBA01037364;AC013751;AC103817;AF077226;AF116654;AI031907;AK025275;AK124311;AK292912;AMYH02018362;AMYH02018363;BC007017;BC008385;BC015734;BC036242;BC066597;BM014699;BX647342;CH471060;DA780310;FB775564;KF459650;NM_003909;XM_005251093 AAD46074;AAF71074;AAH07017;AAH36242;AAH66597;BAA31611;BAF85601;CAV30739;EAW91641;EAW91642;EAW91643;NP_003900;O75131;XP_005251150 Hs.191219 1665098;1680884;1699470;1735728;1767618;2139030;2139032;2161299;5016851 A001W47;D8S1345E;G19731;RH103327;RH12225;RH70186;RH80031;SHGC-2354;SHGC-24287 CPN3;KIAA0636;PRO1071 OTTHUMP00000224659;copine-3 APPROVED protein-coding ENSG00000085719 HGNC:2316 05016 604207 REVIEWED 1317548 CPNE5 copine V Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 38263598 38362252 - 36708549 36807220 - 36740772 36839444 - 6480464 10997877;12477932;14574404;19056867;20379614;21906983;23000965;23583979;9430674;9647638 57699 Q9HCH3 AB046819;ABBA01038267;AL833002;AMYH02013558;BC012765;BC036840;BC053872;CH471081;KF510949;NM_020939;XM_005249247;XM_005249248;XM_005249249;XM_005249252;XM_006715152;XM_006715153;XM_006715154;XR_241909;Z85996 AAH53872;BAB13425;CAH56298;EAX03911;EAX03912;EAX03913;EAX03914;EAX03915;NP_065990;Q9HCH3;XP_005249304;XP_005249305;XP_005249306;XP_005249309;XP_006715215;XP_006715216;XP_006715217 Hs.657869 2173092;2178493 RH46641;SGC30669 COPN5;CPN5;DKFZp666C234;KIAA1599 OTTHUMP00000016296;copine-5 APPROVED protein-coding ENSG00000124772 HGNC:2318 05018 604209 REVIEWED 1316677 CPNE7 copine VII This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 16 16 16 q24.3 74705518 74726398 + 89642176 89663654 + 89575768 89597246 + 1580863;6480464 10534407;12477932;15489334;16189514;19615732;21145461;21900206;21906983;23443559;8889548 27132 E9PJ31;H0YE30;H0YEH8;H3BP03;Q9UBL6 ABBA01014144;AC010538;AC092123;AJ133798;AJ133799;AL539371;AMYH02032672;AMYH02032673;AMYH02032674;BC035334;BC064577;BU739859;CH471184;NM_014427;NM_153636;XM_006721176;XR_243505 AAH35334;AAH64577;ADZ15445;CAB61431;CAB61446;EAW66721;EAW66722;NP_055242;NP_705900;Q9UBL6;XP_006721239 Hs.461775 1664619;1715907 RH12020;RH122688 MGC34192 OTTHUMP00000175354;OTTHUMP00000175355;copine 7;copine-7 APPROVED protein-coding ENSG00000178773 HGNC:2320 05749 605689 REVIEWED 1313396 CPNE6 copine VI (neuronal) This gene encodes a member of the copine family. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through their domain structure and lipid binding capabilities, these proteins may play a role in membrane trafficking. This protein is thought to be brain-specific and has a domain structure of two N-terminal C2 domains and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq, Jul 2013] 14 14 14 q11.2 4405233 4411773 + 24540046 24547309 + 24070837 24078100 + 1580863;6480464;8554872 10403379;11041869;12440769;12477932;14702039;15489334;16169070;20800603;21900206;8125298;9430674;9645480;9886090 9362 B3KWK1;H0YK44;H0YKJ0;H0YKP1;H0YLM2;H0YLS9;H0YLV2;H0YM67;H0YNM7;H0YNP2;H0YNV2;H0YNV6;H0YNX4;O95741 AB009288;ABBA01061330;AK125195;AK222675;AK293655;AK294460;AK314182;AL050397;AL136295;AL137688;AMYH02028878;AW157471;BC018046;BX118572;CH471078;DB481985;NM_001280558;NM_006032;XM_005268216;XM_005268217 AAH18046;ABM84568;ABM86508;BAA75899;BAD96395;BAG36863;BAG54163;BAH11559;BAH11775;EAW66117;EAW66118;EAW66119;EAW66120;NP_001267487;NP_006023;O95741;XP_005268273;XP_005268274 Hs.6132 1777989;2144432;2174641 RH66347;SHGC-32365;STS-F02322 N-copine;OTTHUMP00000027965;copine-6;neuronal copine;neuronal-copine APPROVED protein-coding ENSG00000100884 HGNC:2319 05748 605688 REVIEWED 1317425 CPNE8 copine VIII Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008] 12 12 12 q12 37850417 38103873 - 39046002 39300395 - 38652200 38906135 - 6480464;8554872 11076863;11123945;11230166;12477932;12670487;12886257;14702039;15489334;15489336;16381901;17620599;19322201;21139048;21890473;21906983;21963094;21987572;22939629;23000965;23382691;23583979;9430674 144402 E7ENV7;F8VZB5;Q86YQ8 ABBA01049527;ABBA01049528;ABBA01049529;AC023795;AC067735;AC069442;AK074223;AK094998;AK098593;AK307908;AMYH02026328;AMYH02026329;AMYH02026330;AMYH02026331;AY177785;BC046366;BC048260;BC068040;BC110577;BC110578;BI669075;BX538055;CH471111;NM_153634;R51494;XR_245896 AAH46366;AAI10578;AAI10579;AAO21123;BAC05344;BAG52968;CAL37791;EAW57798;EAW57799;NP_705898;Q86YQ8 Hs.40910 1340335;1655976;1675704;1709344;1746225;1746227;1746265;1746267;1749369;1751763;1767465;2126827;2145934;2170175;2177371;2178003 D12S1820;D12S2001;D12S331;G10701;G17654;G64687;G64688;G64689;G64690;RH48252;RH78833;RH94045;SHGC-105720;SHGC-111123;SHGC-31202;SHGC-81670 MGC129645;MGC129646 OTTHUMP00000240987;OTTHUMP00000240989;copine-8 APPROVED protein-coding ENSG00000139117 HGNC:23498 16747 REVIEWED 1604226 CPNE9 copine family member IX ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH clorgyline; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 p25.3 9680220 9706296 + 9745510 9771592 + 9703813 9729908 + 6480464;8554872 11123945;12477932;15028280;15489334;16335952;19913121;20628086;21906983;23000965;9430674 151835 H7BXI0;Q8IYJ1 AA758411;ABBA01020400;ABBA01020401;AC022382;AMYH02006236;BC035735;BC130375;BM545574;BU101942;BX453546;CA307982;NM_153635;XM_006712990 AAH35735;AAI30376;NP_705899;Q8IYJ1;XP_006713053 Hs.121335 1651713;1662436;2123035 RH12026;SHGC-14322;SHGC-59742 KIAA4217 OTTHUMP00000158526;OTTHUMP00000158831;copine IX;copine-9;copine-like protein protein-coding ENSG00000144550 HGNC:24336 17307 VALIDATED 1342793 CPO carboxypeptidase O This gene is a member of the metallocarboxypeptidase gene family. [provided by RefSeq, Jan 2011] 2 2 2 q33.3 201565751 201595665 + 207804278 207834198 + 206939554 206969474 + 6480464 11836249;12477932;15489334;15815621;21921028;22589738 130749 Q8IVL8 ABBA01062669;ABBA01062670;AC019052;AJ422118;AMYH02005637;AMYH02005638;BC112076;BC112078;BK000189;CH471063;NG_028078;NM_173077 AAI12077;AAI12079;AAX93277;CAD19478;DAA00036;EAW70399;NP_775100;Q8IVL8 Hs.684103 MGC138281;MGC138283 OTTHUMP00000112790;metallocarboxypeptidase C;metallocarboxypeptidase O APPROVED protein-coding ENSG00000144410 HGNC:21011 07098 609563 REVIEWED 1351949 CPP ceruloplasmin (ferroxidase) pseudogene 8 8 8 q21.3 88363820 88366464 + 92169506 92172150 + 91157278 91159922 + 15752613;3427102 340451 ABBA01037416;AC104966;AMYH02018400;M18058;NG_001106 1745555;1745557;1745561;1745563;1745565;1745567;1745569;1849047 D3S3906;GDB:624444;GDB:624447;GDB:624453;GDB:624457;GDB:624463;GDB:624469;GDB:624472 pseudo HGNC:2322 INFERRED 1602325 CPPED1 calcineurin-like phosphoesterase domain containing 1 ENCODES a protein that exhibits metal ion binding (inferred); phosphoprotein phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; arsenite(3-) 16 16 16 p13.12 12928685 13072599 - 12753656 12897744 - 12659799 12803887 - 6480464;8554872 12477932;14702039;16344560;17207965;20379614;21044950;21139048;21906983;23939394;8125298 55313 Q9BRF8 ABBA01006852;ABBA01006853;ABBA01006854;ABBA01006855;ABBA01006856;AC010333;AC092324;AC109597;AK002013;AK022710;AK093854;AK225359;AK225617;AK298662;AMYH02031510;AY553877;BC006289;BX092044;BX640805;CH471112;DA387854;DB468489;KC877576;KC877579;NM_001099455;NM_018340 AAH06289;AAS64575;ADQ32302;BAA92034;BAB14194;BAG52775;BAG60830;CAE45887;EAW85121;EAW85122;NP_001092925;NP_060810;Q9BRF8 Hs.460002 1648746;1680527;1681528;1687544;1695290;1695390;1737313;1765987;1770664;2148126;2159572;5022576;5022578;5024605;5037552 D16S2653;D1S1361;D1S1423;D8S2279;G09525;RH47159;RH47201;RH64955;RH75489;SHGC-10868;SHGC-149384;SHGC-32705;SHGC-60589;SHGC-63005;SHGC-68496 CSTP1;FLJ11151 OTTHUMP00000236588;OTTHUMP00000236589;OTTHUMP00000236590;calcineurin-like phosphoesterase domain-containing protein 1;complete S transactivated protein 1;complete S-transactivated protein 1;serine/threonine-protein phosphatase CPPED1 protein-coding ENSG00000103381 HGNC:25632 07735 615603 VALIDATED 1323470 CPOX coproporphyrinogen oxidase The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009] 3 3 3 q12 96689942 96704107 - 98296677 98312470 - 98577836 98593624 - 1600955;1600958;1580863;1578396;4144824;4144542;6480464;6907045;7240710;8699517;8554872 16839620;19482825;7849704;9173682 11248690;11309681;12059041;12181641;12208494;12227458;12477932;12862310;14669009;15489334;15896662;16159891;16176984;16258391;16343843;17179900;18029348;18557518;19267996;19322201;19339664;20877624;21139048;21145461;21231929;21277781;21906983;21988832;22288185;22765978;22939629;23236641;24078084;24654937;7757079;7959694;7987309;8012360;8125298;8159699;8286403;8407975;8990017;9048920;9298818;9454777;9843038;9888388 1371 D6RER6;H0YA22;P36551 ABBA01026929;AC021660;AK223481;AK290140;AK299692;AMYH02007288;BC017210;BC023551;BC023554;BX648974;CH471052;D16611;NG_015994;NM_000097;XM_005247125;Z28409;Z34531 AAH17210;AAH23551;AAH23554;BAA04033;BAD97201;BAF82829;BAG61597;CAA82250;CAA84292;EAW79854;NP_000088;P36551;XP_005247182 Hs.476982 1666077;1770179;1784850;2107953;2136364;2141255;5093388;5118013;5118015;5491842 A009N37;CPOX;CPOX_8271;G32689;GDB:636633;GDB:636637;RH67966;SHGC-155965;SHGC-77142;STS-Z28409 COX;CPO;CPX;HCP OTTHUMP00000217368;coprogen oxidase;coproporphyrinogen-III oxidase, mitochondrial;coproporphyrinogenase;oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial APPROVED protein-coding ENSG00000080819 HGNC:2321 00417 121300;612732 REVIEWED 736012 CPQ carboxypeptidase Q This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013] 8 8 8 q22.2 93843723 94341990 + 97657455 98155731 + 96645227 97143503 + 6480464;8554872 10206990;12477932;12591738;12675526;16303743;16344560;17214548;20201926;20379614;20802479;23725790;23728906 10404 E5RH35;E5RJA8;E5RJP8;E5RJZ7;H0YBB7;Q9Y646 AA492294;ABBA01037496;ABBA01037497;ABBA01037498;AC010859;AF107833;AF107834;AF119386;AK075132;AK296013;AK304008;AK315447;AMYH02018457;AMYH02018458;AMYH02018459;AMYH02018460;AMYH02018461;AMYH02018462;AP003111;AP003112;AP003117;AP003477;BC012019;BC020689;BF445505;CH471060;DA699663;KF458807;KF458808;KF458809;KF458810;NM_016134;XM_005250755;XM_006716498;XR_428374 AAD31418;AAD43213;AAD43214;AAH20689;ABM84103;ABM87758;BAC11423;BAG37835;BAG58784;BAG64924;EAW91757;EAW91758;NP_057218;Q9Y646;XP_005250812;XP_006716561 Hs.156178 1651095;1680112;1717505;1721237;1753895;1756159;1786564;1786592;2115215;2116903;2125998;2147207;2184204;5094330 AFM198ZF10;D7S2217;D8S1377E;D8S1512;G54714;G59464;RH122258;RH92662;SHGC-108118;SHGC-112347;SHGC-142280;SHGC-143008;WI-15529;WI-22073 LDP;PGCP OTTHUMP00000227229;Ser-Met dipeptidase;aminopeptidase;blood plasma glutamate carboxypeptidase;lysosomal dipeptidase;plasma glutamate carboxypeptidase APPROVED protein-coding ENSG00000104324 HGNC:16910 07140 REVIEWED 70833 CPS1 carbamoyl-phosphate synthase 1, mitochondrial The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010] 2 2 2 q35 205110438 205311714 + 211342406 211543831 + 210477682 210679107 + 1582379;1600715;1600716;1600717;704404;1300048;1580863;2300098;2303515;2303405;2303517;2303532;2303406;2303519;4144071;4144089;70249;4144110;4140432;6480464;6907045;7240710;8554872;8699517 11407344;11779202;14718356;15481768;17539997;19135993;20347174;2882780;3387993;3680220;3973436;4062872;8486760;8821709;8836904;9472964 11474210;12477932;12620389;12655559;12853138;12938929;12955727;15146197;15164414;15342556;15617192;15715943;15897806;16344560;17188582;17461779;17597649;18063578;1840546;18781797;19322201;19410549;19754428;19793055;19913121;19926579;20000738;20031577;20031578;20154341;20301396;20360068;20379614;20383146;20456087;20520828;20578160;20618440;20628086;20659789;20800523;20877624;21120950;21139048;21252943;21281797;21837743;21886157;21963094;21987572;22145905;22173106;22268729;22521883;22536838;22623531;22692827;22939629;23144319;23378610;23517042;23824729;23969696;24097068;24337577;24778252;24924744;2517620;6249820;7416778;7590739;9711878 1373 B7ZAW0;C9JTA4;E7EWJ3;P31327;Q6PEK7 AB180933;AB180934;AB180935;AB180936;AB180937;AB180938;AB208800;ABBA01062737;ABBA01062738;ABBA01062739;ABBA01062740;ABBA01062741;ABBA01062742;AC007970;AC008172;AF154830;AF536523;AK289749;AK302778;AK316425;AL704546;AMYH02005682;AMYH02005683;AMYH02005684;AY167007;AY317138;BC020695;BC058010;BC140943;BJ995129;BP244862;BX537776;BX640601;CH471063;CN367875;CS380713;D90282;DA804480;DC402554;JA361688;JA412925;JA444092;NG_008285;NM_001122633;NM_001122634;NM_001875;Y15793 AAD38072;AAH20695;AAH58010;AAI40944;AAN77181;AAO31763;AAP84318;AAY14960;BAA14328;BAD74204;BAD74205;BAD74206;BAD74207;BAD74208;BAD74209;BAD92037;BAF82438;BAH13804;BAH14796;CAA75785;CAE45707;CAL39127;CCA94564;CCD32697;CCD32852;EAW70492;EAW70493;EAW70494;NP_001116105;NP_001116106;NP_001866;P31327 Hs.149252 1644551;1654414;1654545;1705968;1713275;1720357;1762283;1778271;1784274;1848034;1851141;1851524;5015961;5022322;5022623;5024761;5037552;5092642;5093804 A009X04;D11S2560;D11S2687;D15S1477;D2S2818;D8S2279;G32234;G32934;RH120629;RH12253;RH123929;RH36905;RH68320;RH78779;SHGC-12818;SHGC-146134;SHGC-172945;SHGC-33072;SHGC-79694 CPSASE1;PHN OTTHUMP00000163944;OTTHUMP00000206561;OTTHUMP00000232820;carbamoyl-phosphate synthase [ammonia], mitochondrial;carbamoylphosphate synthetase I APPROVED protein-coding ENSG00000021826 HGNC:2323 01995 237300;265380;608307;615371 REVIEWED 4107272 CPS1-IT1 CPS1 intronic transcript 1 (non-protein coding) This gene does not encode a protein, and it is located within an intron of the gene encoding carbamoyl-phosphate synthetase 1. [provided by RefSeq, Jul 2008] 2 2 2 q34 205250180 205252483 + 211482295 211484600 + 210617571 210619876 + 6480464 12477932 29034 ABBA01062740;AC008172;AF090897;AMYH02005684;BC020670;NG_008285;NR_002763 AAF24021;AAY14961 Hs.658398 1851141 RH78779 CPS1-IT;CPS1IT;CPS1IT1;PRO0132 APPROVED ncrna HGNC:30102 VALIDATED 1315001 CPSF1 cleavage and polyadenylation specific factor 1, 160kDa Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008] 8 8 8 q24.23 141792905 141809167 - 145618446 145634733 - 144393231 144409381 - 1580863;6480464;6907045;8554872 10669729;11060040;11124521;11739730;11992410;12226669;12392551;12477932;14667819;14749727;15302935;15489334;16055720;17289029;1756731;18173839;19136632;20020773;21102410;21139048;21145461;21549307;21822216;21890473;21906983;21963094;22505724;22586326;22939629;23000965;23125841;23151878;23602568;23752268;24250222;24332808;24457600;24550385;24639526;24816145;7590244;7651824;8302877;8654386;9002523;9311784 29894 D3DWL9;E9PIM1;Q10570 AB046744;ABBA01005205;ABBA01005206;ABBA01005207;AC233992;AF205589;AK293601;AMYH02019004;AMYH02019005;AMYH02019006;BC009954;BC017232;BC028197;CD299980;CH471162;NM_013291;U37012;XM_006716548;XM_006716549;XM_006716550 AAC50293;AAH17232;ABM84405;ABM87355;BAB21613;BAG57065;EAW82106;EAW82107;EAW82108;EAW82109;EAW82110;NP_037423;Q10570;XP_006716611;XP_006716612;XP_006716613 Hs.493202 1701588;1799306;2185717 ECD00501;RH104428;STS-R82814 CPSF160;HSU37012;P/cl.18 CPSF 160 kDa subunit;OTTHUMP00000228753;cleavage and polyadenylation specificity factor 160 kDa subunit;cleavage and polyadenylation specificity factor subunit 1;polyadenylation specificity factor APPROVED protein-coding ENSG00000071894 HGNC:2324 05823 606027 VALIDATED 1343883 CPSF1P1 cleavage and polyadenylation specific factor 1, 160kDa pseudogene 1 22 22 22 q12.3 16467587 16471400 + 32665368 32669181 + 32269381 32273194 + 129099 ABBA01055369;AL008723;AMYH02038265;NG_005204 1799306;1799520;1800964;1801628;1819380;1836456;2012596;2012598;2012600;2012602;2012604;2012606;2012608;2012610;2012612;2012614;2012616;2012618;2012620;2012622;2012624;2012626;2012628;2012630;2012632;2012634;2012636;2012638;2012640;2012642;2012644;2012646;2012648;2098526;2098528;2098530;2098532;2098534;2168081;2185717 D22S716;ECD00501;ECD00612;ECD01347;ECD01692;ECD10757;ECD19390;REN77227;REN77228;REN77229;REN77230;REN77231;REN77232;REN77233;REN77234;REN77235;REN77236;REN77237;REN77238;REN77239;REN77240;REN77241;REN77242;REN77243;REN77244;REN77245;REN77246;REN77247;REN77248;REN77249;REN77250;REN77251;REN77252;REN77253;STS-R82814;stSG602652;stSG602653;stSG602654;stSG602655;stSG602656 dJ90G24.5 pseudo HGNC:19251 INFERRED 1320166 CPSF2 cleavage and polyadenylation specific factor 2, 100kDa ENCODES a protein that exhibits RNA binding (inferred); INVOLVED IN histone mRNA 3'-end processing; PARTICIPATES IN mRNA decay pathway; FOUND IN membrane; mRNA cleavage and polyadenylation specificity factor complex; INTERACTS WITH copper(2+) sulfate; formaldehyde; hydrogen peroxide 14 14 14 q31.1 72640924 72683141 + 92588298 92630543 + 92121954 92164199 + 1580863;6480464;6907045 10669729;10718198;10983978;11060040;11124543;11526086;12226669;12477932;14702039;14749727;15302935;15489334;16055720;16344560;17081983;17353931;18029348;18305108;18391951;18688255;19136632;19322201;19471022;19946888;20546612;21139048;21145461;21546767;21549307;21822216;21890473;21906983;21963094;22053931;22079093;22174317;22446626;22505724;22939629;22990118;23251661;23602568;24163370;24457600;24550385;24654752;24816145;7590244;7969155;8302877;8440247;8654386;9002523;9311784 53981 G3V3T7;G3V5T3;H0YJF4;Q9P2I0 AB037788;ABBA01030455;ABBA01030456;ABBA01030457;AK001627;AK001912;AK023583;AL121773;AL442079;AMYH02029759;AU132572;BC060854;BC070095;BU071571;CH471061;DB081880;NM_017437;XM_005267767 AAH70095;BAA92605;BAG50953;BAG50992;BAG51207;CAC09445;EAW81480;EAW81481;EAW81482;EAW81483;NP_059133;Q9P2I0;XP_005267824 Hs.657632;Hs.736541 1683140;1696956;2144158;5015619;5016478;5020287;5022322;5037552 D11S2560;D11S3114;D8S2279;G36104;GDB:434012;RH101950;RH71185;RH91320 CPSF100;KIAA1367 CPSF 100 kDa subunit;CPSF 100kDa subunit;OTTHUMP00000245343;cleavage and polyadenylation specificity factor 100 kDa subunit;cleavage and polyadenylation specificity factor subunit 2 protein-coding HGNC:2325 05824 606028 VALIDATED 1313998 CPSF3 cleavage and polyadenylation specific factor 3, 73kDa This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012] 2 2 2 p25.1 9475764 9525116 + 9563666 9613239 + 9423537 9473110 + 1580863;6480464;6907045;8554872 10454562;10669729;11060040;12226669;12477932;14749727;15194760;15324660;15489334;16055720;16196087;17128255;17669424;18288197;18305108;18688255;18806823;18955505;19136632;21102410;21139048;21549307;21822216;21890473;21906983;21963094;22505724;22586326;22797925;22939629;22990118;23000965;23071092;23277564;24550385;24654937;24816145;7590244;7969155;8125298;8302877;8929409;9002523;9311784 51692 C9JZH6;G5E9W3;Q9UKF6 AA635764;ABBA01015584;ABBA01015585;ABBA01015586;ABBA01015587;ABBA01015588;ABBA01015589;AC080162;AF017269;AF171877;AK025440;AK223487;AK298918;AMYH02003248;BC011654;BC014106;BC020211;BC030988;BC043432;CH471053;DC420903;EF036508;NM_016207;XM_005246167;XM_005246168 AAB70268;AAF00224;AAH11654;AAH20211;AAH30988;AAY14858;ABO65094;ABW03853;BAD97207;BAG61024;EAX00989;EAX00990;NP_057291;Q9UKF6;XP_005246224;XP_005246225 Hs.515972 1336260;1773126;2141861;7183428 D2S287;RH78234;WI-11400 CPSF;CPSF-73;CPSF73;YSH1 CPSF 73 kDa subunit;OTTHUMP00000115483;OTTHUMP00000214089;cleavage and polyadenylation specificity factor 3;cleavage and polyadenylation specificity factor 73 kDa subunit;cleavage and polyadenylation specificity factor subunit 3;mRNA 3'-end-processing endonuclease CPSF-73 APPROVED protein-coding ENSG00000119203 HGNC:2326 05825 606029 REVIEWED 1603031 CPSF3L cleavage and polyadenylation specific factor 3-like The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 1 1 1 p36.33 1321096 1334176 + 1246965 1260067 - 1311585 1324687 - 6480464;8554872 11076863;11230166;12477932;14702039;15489334;15489336;15684398;16189514;16239144;16381901;16710414;18029348;19913121;20133760;20628086;21139048;21890473;21900206;21906983;21963094;21988832;22252320;22505724;23128233;23667531;24250222;24654937;24816145 54973 C9IYS7;C9J979;E9PI75;E9PIG1;E9PIL7;E9PIS0;E9PIX9;E9PJG0;E9PKA4;E9PMA2;E9PNH9;E9PNS4;E9PQF0;H0YCE0;H0YDB1;H0YE15;H0YEQ9;H7C247;J3QRY6;Q5TA45 AA687684;ABBA01016030;ABBA01016031;ABBA01016032;AK000549;AK021939;AK022675;AK023356;AK027767;AK056652;AK058018;AK092190;AK123641;AK291387;AK297350;AL136813;AL139287;AMYH02000091;AMYH02000092;AMYH02000093;AMYH02000094;BC000675;BC007978;BC008041;BC013904;BC020199;BC042444;BC047576;BK005673;BK005728;CH471183;CR533557;DC295791;DC299237;DC299993;KF274554;NM_001256456;NM_001256460;NM_001256462;NM_001256463;NM_017871;XM_005244763;XM_006710715;XR_426614 AAH00675;AAH07978;AAH08041;AAH13904;AAH20199;BAA91246;BAB13943;BAB14541;BAF84076;BAG51775;BAG59799;CAB66747;CAG38588;CAL38096;DAA05669;DAA05728;EAW56232;EAW56233;EAW56234;EAW56235;EAW56236;EAW56237;EAW56238;EAW56239;EAW56240;EAW56241;EAW56242;EAW56243;EAW56244;NP_001243385;NP_001243389;NP_001243391;NP_001243392;NP_060341;Q5TA45;XP_005244820;XP_006710778 Hs.6449 1682405;1688951;1739935;5014740;5015961;5016478;5020414;5020881;5020946;5024761;5037552;5109281 D15S1477;D17S610;D1S1425;D1S2520;D8S2279;GDB:434012;L17688;L17709;L17971;RH36905;RH76790;RH91825 CPSF73L;FLJ13294;FLJ20542;INT11;INTS11;RC-68;RC68 CPSF3-like protein;OTTHUMP00000003390;OTTHUMP00000003391;OTTHUMP00000003393;OTTHUMP00000003397;cleavage and polyadenylation-specific factor 3-like protein;integrator complex subunit 11;protein related to CPSF subunits of 68 kDa;related to CPSF subunits 68 kDa APPROVED protein-coding ENSG00000127054 HGNC:26052 13377 611354 VALIDATED 2290025 CPSF4L cleavage and polyadenylation specific factor 4-like ENCODES a protein that exhibits metal ion binding (inferred); RNA binding (inferred); INTERACTS WITH ammonium chloride (ortholog); clofibrate (ortholog); dibutyl phthalate (ortholog) 17 17 17 q25.1 67827709 67841141 - 71244588 71258019 - 73248449 73261880 - 6480464 12477932;16625196;20379614 642843 A6NMK7;H9KVA5 ABBA01028869;AC087301;AMYH02033959;BC157870;CH471099;NM_001129885 A6NMK7;AAI57871;EAW89121;NP_001123357 Hs.534707 1739645 D17S1722E putative cleavage and polyadenylation specificity factor subunit 4-like protein protein-coding ENSG00000187959 HGNC:33632 PROVISIONAL 736724 CPSF4 cleavage and polyadenylation specific factor 4, 30kDa Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 93770764 93789197 + 99036563 99054996 + 99438940 99457373 + 727752;1580863;6480464;6907045 9651582 11060040;12477932;12690205;14749727;15489334;16169070;16189514;16341674;17207965;17522219;18029348;19136632;19913121;20628086;21139048;21822216;22990118;23602568;7969155;8302877;8889549;9002523;9224719 10898 B7Z7B0;C9JEV9;C9K0K2;F8WEL7;H7C016;H7C419;O95639 AA040394;ABBA01013262;AC073063;AI076832;AK301745;AMYH02016360;BC003101;BC050738;BM757197;BM787372;BQ052009;BQ641871;CH236956;CH471091;CR542161;CX754488;EF191081;NM_001081559;NM_006693;U79569 AAD00321;AAH03101;AAH50738;ABN05292;ADQ33100;BAH13546;CAG46958;EAL23878;EAW76662;EAW76663;EAW76664;EAW76665;EAW76666;EAW76667;EAW76668;NP_001075028;NP_006684;O95639 Hs.489287 1775189;1847555;2117707;2161723;2169848 A007H02;GDB:4584931;GDB:4585367;RH12827;UniSTS:16335 CPSF30;NAR;NEB1;neb-1 CPSF 30 kDa subunit;NS1 effector domain-binding protein 1;OTTHUMP00000206234;OTTHUMP00000206235;OTTHUMP00000206236;OTTHUMP00000206237;OTTHUMP00000206239;cleavage and polyadenylation specific factor 4, 30kd subunit;cleavage and polyadenylation specificity factor 30 kDa subunit;cleavage and polyadenylation specificity factor subunit 4;cleavage-polyadenylation specificity factor, 30kD;no arches homolog;no arches-like zinc finger protein APPROVED protein-coding ENSG00000160917 HGNC:2327 04338 603052 VALIDATED 1312196 CPSF6 cleavage and polyadenylation specific factor 6, 68kDa The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008] 12 12 12 q15 69297148 69331977 + 69633317 69668138 + 69239537 69274358 + 6480464;6907045 11060040;12477932;14561889;14690600;14702039;15169763;15489334;15937220;16055720;16189514;16344560;16713569;17024186;17172643;17267687;17342744;17353931;18029348;18391951;18809582;19447967;19738201;19864460;19946888;20085233;20227665;20695905;21139048;21145461;21295486;21483454;21822216;21890473;21906983;21963094;21994675;22113938;22174317;22301135;22301145;22323290;22412018;22446626;22505724;22558309;22813749;22939629;22956906;22990118;23184937;23187700;23414560;23463506;23602568;23622145;23658440;23885082;24051001;24457600;24550385;24778252;8125298;8626397;9659921 11052 B4DSU9;F8VNP8;F8W084;F8WJN3;Q16630 ABBA01026542;AC020656;AK021534;AK021833;AK098338;AK223568;AK292024;AK299928;AMYH02026707;AW189370;BC000714;BC005000;CH471054;DA365448;NM_001300947;NM_007007;X67336;X67337;XM_005268588;XM_005268589;XM_005268590 AAH00714;AAH05000;ABM83085;ABW03489;BAD97288;BAF84713;BAG61761;CAA47751;CAA47752;EAW97215;EAW97216;EAW97217;EAW97218;EAW97219;NP_001287876;NP_008938;Q16630;XP_005268645;XP_005268646;XP_005268647 Hs.369606 1667796;1688277;1736216;1739707;1782560;2129658;2218424 CPSF6_4630;D12S1161E;D12S1495;RH47194;RH70871;SHGC-111490;WI-19247 CFIM;CFIM68;HPBRII-4;HPBRII-7 CPSF 68 kDa subunit;OTTHUMP00000240851;OTTHUMP00000240853;OTTHUMP00000240854;cleavage and polyadenylation specificity factor 68 kDa subunit;cleavage and polyadenylation specificity factor subunit 6;cleavage factor Im complex 68 kDa subunit;pre-mRNA cleavage factor I, 68kD subunit;pre-mRNA cleavage factor Im (68kD);pre-mRNA cleavage factor Im 68 kDa subunit;protein HPBRII-4/7 APPROVED protein-coding ENSG00000111605 HGNC:13871 604979 VALIDATED 735945 CPT1A carnitine palmitoyltransferase 1A (liver) The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 65858303 65945748 - 68522088 68611878 - 68754620 68841931 - 1600732;1300048;1580863;2311345;2311344;2317584;5683635;6480464;6484113;7240710;8554872;8699517 15685545;16751799;19430727;19553925;9691089 10408760;11001805;11095714;11257506;11350182;11441142;12111367;12189492;12464674;12477932;14517221;14711372;15489334;15647998;15669684;15846373;16054041;16246309;16271724;16344560;16697732;16806233;17089095;17445541;17452323;18029348;18253084;18385088;18996102;19181627;19217814;19460752;19913121;19946888;20124555;20301700;20562859;20602615;20628086;20638986;20691246;20696606;20843525;20877624;20937660;21139048;21252943;21348853;21484929;21726808;21763168;21890473;21906983;21962599;21963094;21987572;21988832;21990363;22045927;22268729;22278432;22286219;22533991;22871568;22939629;23090344;23251661;23464991;23503661;23503679;23752268;23842279;23992672;24118240;24457600;24639526;24816145;25027693;7892212;9070836;9070950 1374 B2RAQ8;H3BMD2;H3BP22;H3BUJ0;H3BUV7;P50416;Q8WZ48 AA632225;ABBA01023981;ABBA01023982;ABBA01023983;ABBA01023984;ABBA01023985;AJ420378;AJ420747;AJ420748;AK025307;AK172798;AK309464;AK314301;AMYH02025023;AMYH02025024;AP000808;AP003732;BC000185;BT009791;CH471076;DB063502;KF455412;L39211;NG_011801;NM_001031847;NM_001876;X83113;XM_005273762;XM_005273763 AAC41748;AAH00185;AAP88793;BAG36955;CAD12576;CAD12625;CAD59673;EAW74721;EAW74722;NP_001027017;NP_001867;P50416;XP_005273819;XP_005273820 Hs.503043 1650210;1737759;1773389;1775329;2148186;5014051;5015619;5016700;5021872;5022200;5022651;5037552;5117897 D11S1033;D11S1183;D11S2921;D11S3114;D11S3357;D8S2278;D8S2279;GDB:631813;L18426;RH79802;SHGC-32786;WI-11974;sY3084 CPT I;CPT1;CPT1-L;CPTI-L;L-CPT1 OTTHUMP00000237196;OTTHUMP00000237197;OTTHUMP00000237552;carnitine O-palmitoyltransferase 1, liver isoform;carnitine O-palmitoyltransferase I, liver isoform;carnitine palmitoyltransferase 1, liver;carnitine palmitoyltransferase I, liver APPROVED protein-coding ENSG00000110090 HGNC:2328 02755 255120;600528 REVIEWED 619557 CPT1B carnitine palmitoyltransferase 1B (muscle) The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009] 22 22 22 q13.33 34883323 34893129 - 51007290 51017096 - 50568861 50578667 - 1300048;1580863;2317584;6480464;6484113 19430727 10408760;10493829;10591208;10918069;11001805;11095714;11257506;11258795;12015320;12477932;12565845;15356291;15579906;15647998;16054041;17089095;17987377;18660489;18820697;18823527;18996102;19074885;19404393;19553926;19913121;19937377;20628086;20877624;21048031;22177342;22538307;22809552;23566841;23842279;23969696;8125298;8679700;9070950;9199240;9224698;9344464;9693124;9830040 1375 A5PLL0;C9J7C3;H7C0S1;Q53FV7;Q92523 AB003286;ABBA01042624;AI142100;AK223174;AK291316;AK297866;AK299395;AMYH02038619;AW297964;BC142954;BG426428;BI560870;BU615917;CB961274;CH471138;D87812;DC373481;HH961808;NG_012643;NM_001145134;NM_001145135;NM_001145136;NM_001145137;NM_004377;NM_152245;NM_152246;U62317;U62733;U66828;Y08682;Y08683 AAB03343;AAB40651;AAC51122;AAI42955;AAI43072;AAI50319;BAA13461;BAA21492;BAD96894;BAF84005;BAH12680;BAH13024;CAA69938;CAA69939;CBX51377;EAW73568;EAW73569;EAW73570;EAW73571;EAW73572;NP_001138606;NP_001138607;NP_001138608;NP_001138609;NP_004368;NP_689451;NP_689452;Q92523 Hs.439777;Hs.609867 1684156;1747343;2107005;2129706;2168853;2168855;2178120;2191233;2191657 A005A09;CPT1B_7768;D22S970E;D22S975E;G20256;G65458;MARC_16689-16690:1017862088:1;MARC_4143-4144:996679424:1;SHGC-34107 CPT I;CPT1-M;CPT1M;CPTI;CPTI-M;FLJ55729;FLJ58750;KIAA1670;M-CPT1;MCCPT1;MCPT1 OTTHUMP00000196838;OTTHUMP00000196978;OTTHUMP00000196979;carnitine O-palmitoyltransferase 1, muscle isoform;carnitine O-palmitoyltransferase I, mitochondrial muscle isoform;carnitine O-palmitoyltransferase I, muscle isoform;carnitine palmitoyltransferase I-like protein APPROVED protein-coding ENSG00000205560 HGNC:2329 09065 601987 REVIEWED 1602680 CPSF7 cleavage and polyadenylation specific factor 7, 59kDa ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN protein tetramerization; PARTICIPATES IN mRNA decay pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; mRNA cleavage factor complex; nucleus; INTERACTS WITH atrazine; aflatoxin B1 (ortholog); sodium dichromate (ortholog) 11 11 11 q12.2 58505642 58532986 - 61170120 61197464 - 61402648 61429992 - 6480464;6907045;8554872 11060040;12226669;12477932;14702039;15144186;15489334;16055720;16189514;16344560;16713569;17024186;17081983;18729074;18781797;19542561;19596686;19738201;19946888;20467438;20695905;21139048;21890473;21987572;22113938;22174317;22323290;22623428;22939629;23125841;24332808;24457600;24550385;24778252;24816145;8626397 79869 B4DGF8;C9J286;C9J323;C9JM38;F5GXA3;F5H047;F5H1W4;F5H2K8;F5H5B7;F5H669;F5H6A8;F5H6M0;F5H6P5;J3QT54;Q8N684 ABBA01003199;AJ275970;AK022591;AK092037;AK096343;AK294578;AK307190;AL512759;AL832546;AL832667;AL833332;AMYH02024878;AP003108;BC018135;BX537888;CH471076;DA194038;DA804579;NM_001136040;NM_001142565;NM_024811;XM_005274298;XM_005274299;XM_005274302;XM_005274303;XM_006718690;XM_006718691;XM_006718692 AAH18135;ACE86669;ACE87353;BAB14118;BAG53266;BAG57769;CAC21678;CAC81661;CAD97884;EAW73945;NP_001129512;NP_001136037;NP_079087;Q8N684;XP_005274355;XP_005274356;XP_005274359;XP_005274360;XP_006718753;XP_006718754;XP_006718755 Hs.718984 1646381;1651899;1857153;2145546;2187487 Bda87b01;RH12455;RH48364;WI-16090;WI-17061 CFIm59;FLJ12529;FLJ39024;MGC9315 CPSF 59 kDa subunit;OTTHUMP00000211664;OTTHUMP00000211667;OTTHUMP00000211668;OTTHUMP00000211669;OTTHUMP00000238218;cleavage and polyadenylation specificity factor 59 kDa subunit;cleavage and polyadenylation specificity factor subunit 7;cleavage factor Im complex 59 kDa subunit;pre mRNA cleavage factor I, 59 kDa subunit;pre-mRNA cleavage factor I, 59 kDa subunit;pre-mRNA cleavage factor Im 59 kDa subunit protein-coding ENSG00000149532 HGNC:30098 16906 VALIDATED 1313382 CPT1C carnitine palmitoyltransferase 1C This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 19 19 19 q13.33 47063733 47086445 + 50194363 50216988 + 49691106 49713731 + 1580863;6480464;6484113 11001805;11095714;12376098;12477932;14702039;15342556;15363638;15489334;15613406;16778180;17018521;17478525;18192268;18385088;19694967;19913121;20628086;20864405;20877624;21576264;21961029;24250222 126129 B3KU49;M0QZ13;M0R0D3;M0R115;M0R1F9;M0R2B9;M0R2H6;M0R2V3;M0R399;Q8TCG5 AB208884;ABBA01032913;AC011495;AF331918;AF357970;AK074389;AK096516;AK289713;AK290092;AK299866;AK309087;AL831876;AMYH02036326;AMYH02036327;AMYH02036328;AMYH02036329;BC029104;BP194020;CH471177;DB456457;KF456599;NM_001136052;NM_001199752;NM_001199753;NM_152359;NR_108072;XM_005258505;XM_005258506;XM_005258507;XM_006723009;XM_006723010 AAH29104;AAL99615;AAQ14875;ABM82478;ABM85665;BAB85068;BAD92121;BAF82402;BAF82781;BAG53311;BAG61720;CAD38561;EAW52523;EAW52524;EAW52525;EAW52526;EAW52527;EAW52528;EAW52529;EAW52530;EAW52531;EAW52532;EAW52533;NP_001129524;NP_001186681;NP_001186682;NP_689572;Q8TCG5;XP_005258562;XP_005258563;XP_005258564;XP_006723072;XP_006723073 Hs.112195 1685514;2161998;5015619;5037552;5096611;5117897 D11S3114;D8S2279;GDB:631813;RH78656;RH91103;SHGC-30929 CATL1;CPT IC;CPT1-B;CPT1P;CPTI-B;CPTIC;FLJ23809 CPT1-like pseudogene;carnitine O-palmitoyltransferase 1, brain isoform;carnitine O-palmitoyltransferase I, brain isoform;carnitine acyltransferase-like protein 1;carnitine palmitoyltransferase I related C APPROVED protein-coding ENSG00000169169 HGNC:18540 12315 608846 REVIEWED 736835 CPT2 carnitine palmitoyltransferase 2 The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008] 1 1 1 p32 51949941 51967712 + 53662101 53679869 + 53196429 53214197 + 1600742;734814;1300048;1580863;2317584;6480464;7240710;8554872;8699517 10873395;1528846;19430727 10090476;10607472;11001805;11095714;11257506;11477613;11855939;11994355;12408750;12410208;12477932;12707442;12971426;14605500;14615409;15489334;15622536;15642848;15647998;15754283;16054041;16168441;16670153;16671104;16710414;16996287;17179390;17651973;17709715;17936304;18024217;18029348;18306170;18363739;18550408;18645163;18996102;19362304;1961767;19762733;1988962;19913121;20186120;20301431;20370797;20538056;20602615;20628086;20810031;20877624;20934285;20952238;21277129;21641254;21697855;2174799;21913903;22493507;23322164;23475205;23566841;24816145;7711730;7892212;7896283;8086471;8125298;8358442;8499929;8651281;9600456;9758712 1376 P23786;Q53G79 ABBA01074743;AK223052;AK312687;AL606760;AMYH02001034;BC002445;BC005172;BU629852;CH471059;CQ789417;HC892329;HC898236;HC901564;M58581;NG_008035;NM_000098;U09646;U09648;X78707;XM_005270484 AAB59462;AAB60382;AAB60383;AAH02445;AAH05172;BAD96772;BAG35567;CAA55360;CAG24446;CBN60633;CBN63525;CBN65242;EAX06753;NP_000089;P23786;XP_005270541 Hs.713535 1676886;1694936;1742413;1766375;1779322;2120086;2143308;2159817;2164721;2218426 CPT2_4186;D1S1890E;G44359;GDB:196859;RH64517;RH99332;SHGC-149721;SHGC-153324;SHGC-17418;SHGC-74836 CPT II;CPT1;IIAE4 CPTASE;OTTHUMP00000010493;carnitine O-palmitoyltransferase 2, mitochondrial;carnitine palmitoyltransferase II APPROVED protein-coding ENSG00000157184 HGNC:2330 02802 255110;600649;600650;608836;614212 REVIEWED 2289752 CPTP ceramide-1-phosphate transfer protein ENCODES a protein that exhibits ceramide 1-phosphate binding; ceramide 1-phosphate transporter activity; phospholipid binding; INVOLVED IN ceramide 1-phosphate transport; FOUND IN cytoplasm (inferred); endosome (inferred); Golgi apparatus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; potassium chromate 1 1 1 p36.33 1316866 1320999 - 1260136 1264276 + 1324756 1328896 + 6480464 12477932;16751776;19913121;20628086;21988832;23863933;24250222 80772 J3KST3;Q5TA50;S4S694 ABBA01016032;AL122073;AL139287;AMYH02000094;BC004366;BC072454;BC098429;CH471183;JN542538;NM_001029885;XM_005244801;XM_005244802 AAH98429;AEX26944;CAB59248;EAW56230;EAW56231;NP_001025056;Q5TA50;XP_005244858;XP_005244859 Hs.515689 GLTPD1;MGC10334 GLTP domain-containing protein 1;OTTHUMP00000003206;glycolipid transfer protein domain containing 1;glycolipid transfer protein domain-containing protein 1 APPROVED protein-coding ENSG00000224051 HGNC:28116 615467 VALIDATED 7818994 CPT2P1 carnitine palmitoyltransferase 2 pseudogene 1 1 1 1 51939807 51940383 + 53651967 53652543 + 53186295 53186871 + 100420556 ABBA01074744;AL606760;AMYH02001034;NG_027096 pseudo HGNC:49538 INFERRED 1343310 CPX cleft palate and/or ankyloglossia ASSOCIATED WITH Abruzzo Erickson syndrome (inferred); Chondrodysplasia punctata 2, X-linked dominant (inferred); Cleft palate X-linked (inferred) 7240710 1377 HGNC:2331 302905;302960;303400 1345667 CPVL carboxypeptidase, vitellogenic-like The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008] 7 7 7 p15.1 29024825 29175706 - 29035247 29225213 - 28995631 29185597 - 1580863;6480464 10527689;10610771;11042152;11401439;12477932;12690205;12853948;12975309;14702039;15489334;16303743;17207965;17353931;17903298;19056867;19734545;20379614;20460425;20562859;21139048;21890473;21911749;22268729;22505724;23251661;23383108;23443559;24132900;24255178;24337577;8125298;9780222 54504 C9J6L4;C9JI22;C9JLV0;C9JVI2;C9JZ94;H7C0X5;H7C218;Q9H3G5 ABBA01056793;ABBA01056794;ABBA01056795;AC004593;AC005162;AC005232;AC007096;AF106704;AF217508;AF282617;AK075433;AK124472;AK225545;AMYH02015434;AMYH02015435;AMYH02015436;AY358549;BC016838;CH236948;CH471073;NM_019029;NM_031311;XM_005249786 AAC23787;AAF67619;AAG14348;AAG37991;AAH16838;AAQ88913;AAS07545;ABM82380;ADQ32627;BAC11618;BAG54041;EAL24207;EAW93914;EAW93915;EAW93916;EAW93917;EAW93918;NP_061902;NP_112601;Q9H3G5;XP_005249843 Hs.233389 1650710;1674266;1711846;2115696;2145404;2153194;5092874 A009B25;G31127;G32385;G49454;GDB:1317322;RH11673;SGC31707 HVLP;MGC10029 CP-Mac carboxypeptidase;OTTHUMP00000122610;OTTHUMP00000122611;OTTHUMP00000202520;OTTHUMP00000202581;VCP-like protein;carboxypeptidase WUG;probable serine carboxypeptidase CPVL;vitellogenic carboxypeptidase-like protein APPROVED protein-coding ENSG00000106066 HGNC:14399 07479 609780 REVIEWED 1345373 CPXCR1 CPX chromosome region, candidate 1 This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] X X X q21.3 88237233 88244795 + 88002226 88009786 + 88747225 88754785 + 1580863;6480464;8554872 11499681;12477932;20467438;22808956 53336 Q8N123 ABBA01052013;ABBA01052014;AF284767;AK098646;AK313768;AL031116;AMYH02039933;BC027614;BU570042;CH471104;NG_021312;NM_001184771;NM_033048 AAH27614;AAK69720;ABM82606;ABM85791;BAC05363;BAG36506;EAW98549;EAW98550;EAW98551;NP_001171700;NP_149037;Q8N123 Hs.458292 1771847;2109191 CPXCR1_9763;DXS7669 CT77 CPX chromosomal region candidate gene 1 protein;OTTHUMP00000023634;OTTHUMP00000023635;cancer/testis antigen 77 APPROVED protein-coding ENSG00000147183 HGNC:2332 06474 REVIEWED 1315836 CPXM1 carboxypeptidase X (M14 family), member 1 This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010] 20 20 20 p13 2839233 2845810 - 2774715 2781292 - 2794069 2800646 - 1580863;6480464;8554872 10073577;11780052;12477932;12975309;14702039;14759258;15146197;15489334;16344560;18624398 56265 Q8N2F1;Q96SM3 ABBA01053798;AI470029;AK027661;AK075508;AK075527;AK303142;AK315027;AL035460;AL541188;AMYH02036586;AW874578;AY358956;BC032692;BC063430;BX366559;CH471133;CN308423;CS208031;DB252546;HB867216;NM_001184699;NM_019609 AAH63430;AAQ89315;BAB55275;BAC11661;BAC11672;BAG64246;CAJ44941;CBF57594;EAX10575;NP_001171628;NP_062555;Q96SM3 Hs.659346 CPX1;CPXM OTTHUMP00000030039;carboxypeptidase x (m14 family);carboxypeptidase-like protein X1;metallocarboxypeptidase CPX-1;probable carboxypeptidase X1 APPROVED protein-coding ENSG00000088882 HGNC:15771 07099 609555 REVIEWED 731300 CPZ carboxypeptidase Z This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 8487239 8514366 + 8594387 8621488 + 8592660 8619761 + 1580863;6480464;8554872 10080937;10671522;10737800;11766880;12417617;12477932;14702039;15489334;15489335;16344560;20379614;9099699 8532 D6RBI5;Q66K79 ABBA01008701;AC105345;AI270606;AK056317;AK127844;AMYH02008699;AW139378;BC006393;BC018913;BC080539;BF993977;BX338482;CH471131;CV026874;DA050438;DA698835;DA704214;KF495771;KF510872;NM_001014447;NM_001014448;NM_003652;U83411 AAB58911;AAH80539;BAB71147;BAG54585;EAW82332;EAW82333;EAW82334;EAW82335;NP_001014447;NP_001014448;NP_003643;Q66K79 Hs.61995 1655999;1756081;2110193;2110195;2189087 G65151;SHGC-142877;SHGC-59629;stb301J.ca1b;stb301J10.p2 MGC99682 OTTHUMP00000115596;OTTHUMP00000217515;metallocarboxypeptidase Z APPROVED protein-coding ENSG00000109625 HGNC:2333 04376 603105 REVIEWED 1603411 CR1 complement component (3b/4b) receptor 1 (Knops blood group) This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq, Jul 2008] 1 1 1 q32 180918501 181045588 + 207669473 207815110 + 207496128 207641765 + 6480464;6907045;7240710;8554872 10382758;10528197;10528211;10531307;10698335;10737800;11120776;11313284;11694537;11884446;11896343;11955431;11981823;12083416;12091241;12477932;12486610;12490287;12773320;12869997;14556965;14635039;14694201;15069174;15072851;15163541;15176657;15381817;15388259;15526369;15529364;15578041;15660833;15728520;15733500;15864913;16133175;16277654;16289666;16360013;16426237;16433910;1670949;1708808;1708809;17207243;17467802;17709521;17999656;18028942;18075277;18182380;1827486;18434253;18684861;18709693;18713965;18842294;18929826;18937792;18954261;18954403;19048480;19056867;19131551;19344414;19480840;19578791;19734903;19874218;19906204;19959855;20237496;20379614;20459687;20534741;20538029;20554627;20558149;20558387;20646210;20670356;20674675;20697030;20702729;20739100;20795311;20855594;20889874;20951238;21251929;21300948;21347408;21358043;21391232;21403675;21459435;21460840;21460841;21593778;21659422;21663961;21700265;21726919;21727667;21784344;21839519;21912625;21985366;22015308;22237765;22244847;22262751;22291609;22333472;22343410;22374251;22402018;22539578;22819390;22888138;22952074;2295627;22960360;22962438;23022416;23152904;23202439;23376460;23390291;23416052;23440418;23464487;23582656;23591632;23650005;23898208;24022490;24038027;2411809;24162737;24214979;24433281;24621201;2478758;2531419;2551147;2564414;2877046;2933745;2951479;2959289;2971757;2972794;2977721;2989379;3014040;3031685;3155774;3156931;3157763;3305706;3736743;3782802;4019777;6115248;6126949;6222138;6223944;6230413;6572933;6910481;6978375;7690834;8245463;8422437;9089986;9230440;9614933;9988761 1378 E9PDY4;E9PQN4;H0YE06;P17927;Q5SR44 ABBA01048243;ABBA01048244;ABBA01048245;ABBA01048246;ABBA01183006;AF169969;AF169970;AF264715;AF264716;AK298486;AK309342;AL137789;AL691452;AMYH02002564;AMYH02002565;AMYH02002566;AMYH02002567;AMYH02002568;AMYH02002569;AMYH02002570;AMYH02002571;AMYH02002572;AMYH02002573;AMYH02002574;AMYH02002575;AY701493;AY701494;AY701495;AY701496;AY701497;AY701498;AY701499;AY701500;AY701501;AY701502;AY701503;AY701504;BC032550;BF900429;BX113709;BX643705;CH471100;L17390;L17418;M11569;M11617;M11618;M31241;NG_007481;NM_000573;NM_000651;X05309;X14358;X14361;X14362;XM_005273064;XM_006711166;XM_006711167;XM_006711168;Y00816 AAA52297;AAA52298;AAA52299;AAB60694;AAB60695;AAD15289;AAG09139;AAG09140;AAG14442;AAG14443;AAV65566;AAV65567;AAV65568;AAV65569;AAV65570;AAV65571;AAV65572;AAV65573;AAV65574;AAV65575;AAV65576;AAV65577;BAG60695;CAA28933;CAA32538;CAA32540;CAA32541;CAA68755;CAE82047;EAW93480;NP_000564;NP_000642;P17927;XP_005273121;XP_006711229;XP_006711230;XP_006711231 Hs.334019 1334880;1340227;1649526;1693002;2124591;2141951;5020946;5037552;5121239;5125130 AL034227;D1S2538;D1S2782;D1S2796;D8S2279;L17971;RH11128;SHGC-33387;SHGC-35372;SHGC-35375 C3BR;C4BR;CD35;KN C3-binding protein;C3b/C4b receptor;CD35 antigen;Knops blood group antigen;OTTHUMP00000034454;OTTHUMP00000034544;OTTHUMP00000034545;OTTHUMP00000228813;OTTHUMP00000228815;complement component receptor 1;complement receptor type 1 APPROVED protein-coding ENSG00000203710 HGNC:2334 00398 120620;607486;611162 REVIEWED 1345488 CPXM2 carboxypeptidase X (M14 family), member 2 ENCODES a protein that exhibits metallocarboxypeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN cell adhesion (inferred); proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular matrix; extracellular space; INTERACTS WITH silicon dioxide; trichostatin A; valproic acid 10 10 10 q26.13 119210810 119357101 - 125505152 125651500 - 123745636 123891984 - 737633;1580863;6480464;8554872 12477932 12975309;14702039;15231748;15489334;16385451;20379614;9809751 119587 Q49AT5;Q8N436 ABBA01015459;AC009987;AC068058;AK123463;AK296365;AK300506;AK304023;AK304814;AL833732;AMYH02023965;AMYH02023966;AMYH02023967;AMYH02023968;AY358565;BC027623;BC036789;BC137492;BC146862;CH471066;NM_198148;XM_005269528 AAH27623;AAH36789;AAI37493;AAI46863;AAQ88928;BAG59040;BAG62219;BAG64938;BAG65564;CAH56260;EAW49279;NP_937791;Q8N436;XP_005269585 Hs.656887;Hs.663647 1335720;1709026;1788440;1936198;2113108;2123217;2145838;7184432 D10S216;D10S2463;G17478;REN38936;RH46887;SHGC-79582;fd49g09.y1 CPX2;UNQ676 4632435C11Rik;OTTHUMP00000020688;carboxypeptidase Hlo;carboxypeptidase-like protein X2;cytosolic carboxypeptidase;inactive carboxypeptidase-like protein X2 protein-coding ENSG00000121898 HGNC:26977 08517 VALIDATED 1320753 CR2 complement component (3d/Epstein Barr virus) receptor 2 This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 1 1 1 q32 180876666 180912267 + 207627645 207663240 + 207454300 207489895 + 1580863;6480464;6907045;7240710;8699517;8554872 10068037;11034390;11387479;11466369;11684127;11698449;11728339;11739509;11813981;11981823;12122212;12149502;12444129;12477932;12546713;12713795;12813023;1323059;1383329;1424280;14607925;14635039;15138285;15187133;15603708;15713467;15713468;15795251;15905540;16289966;16344560;16375923;16740600;16785534;16803874;16806233;16920989;16987062;1702139;1708808;17118449;17301948;17360460;17881405;181330;18174230;1830068;1831222;1849076;18500464;18568448;18713965;18804116;18842294;18976975;19017934;19164292;19187965;19193442;19344414;19359041;19360456;19387458;19487031;19524299;19666505;19740327;20083651;20091675;20237496;20301476;20558730;20951140;21052675;21106852;21161615;21269698;21328056;21490949;21527715;2161885;21889131;22084433;22137275;22673213;22678901;22885687;22899340;23002439;23279883;23333304;23384704;23612877;24600013;2528587;2563370;2565927;2827171;2832506;2995485;3016712;3782802;7515913;7690834;7753047;7780154;8125298;8390533;8474169;8766552;8996252;9796912;9804823 1380 P20023;Q5SR47 ABBA01048246;AI765035;AK223627;AK301496;AL391597;AL691452;AMYH02002564;AU133057;AW303499;BC032548;BC090937;BC136394;BQ004295;CH471100;J03565;M26004;M26016;M26317;NG_013006;NM_001006658;NM_001877;S62696;Y00649 AAA35784;AAA35786;AAB04638;AAB27186;AAH90937;AAI36395;BAD97347;BAG63007;CAA68674;EAW93481;EAW93482;EAW93483;NP_001006659;NP_001868;P20023 Hs.445757 1661817;1795618 CR2_6;SHGC-76269 C3DR;CD21;CR;CVID7;SLEB9 EBV receptor;OTTHUMP00000034421;OTTHUMP00000034447;OTTHUMP00000034449;complement C3d receptor;complement receptor type 2;epstein-Barr virus receptor APPROVED protein-coding ENSG00000117322 HGNC:2336 00399 120650;610927;614699 REVIEWED 1345653 CRABP1 cellular retinoic acid binding protein 1 This gene encodes a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq, Jul 2008] 15 15 15 q24 55569189 55577095 + 78632666 78640572 + 78340324 78348230 + 1580863;6480464;6484672 21621639 12477932;12640681;1309505;14605320;14713576;15281009;15489334;15515157;15607035;16169070;16254461;16344560;1654334;17167179;17438526;17623056;17727842;18000064;19087254;20571827;20571834;20634891;21270509;21319273;21697133;21900206;24269351;2825608;8999826;9005841;9154115;9704013 1381 B5MCB5;F1T0F7;P29762 AB593091;ABBA01060584;AC011270;AI863257;AL110113;AMYH02030862;AU132726;BC022069;CH471136;CR457017;FB571429;NM_004378;S74445 AAB20773;AAH22069;ABM87829;ABW03735;BAJ84031;CAG33298;CAR95132;EAW99172;NP_004369;P29762 Hs.346950 1728941;2118755;2145418;2145420 Crabp1;D15S1227;STS-W95693;WI-20012 CRABP;CRABP-I;RBP5 CRABPI;OTTHUMP00000185023;cellular retinoic acid-binding protein 1;cellular retinoic acid-binding protein I APPROVED protein-coding ENSG00000166426 HGNC:2338 07520 180230 REVIEWED 1348835 CR1L complement component (3b/4b) receptor 1-like ASSOCIATED WITH Melanoma (inferred); FOUND IN receptor complex; INTERACTS WITH trichostatin A; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q32.1 181048945 181127502 + 207818458 207897036 + 207645113 207723691 + 6480464;8554872 10737800;12477932;14687939;16344560;19060910;21700265;2295627 1379 Q2VPA4 ABBA01048242;ABBA01048243;AL137789;AL365178;AMYH02002575;AMYH02002576;AY114160;BC109190;BC109191;BE842163;BE842176;BX094042;CS300531;DB337938;M31230;M31231;M31232;M31233;M31234;M31235;M31236;M31237;NM_175710 AAI09191;AAI09192;AAI60171;AAM47024;CAK32195;NP_783641;Q2VPA4 Hs.628568;Hs.655194 1658833;1695780;1770475;2124591;2152479;2160877 SHGC-33387;SHGC-53730;SHGC-76233;SHGC-76277;SHGC-76279;SHGC-82542 MGC129536 OTTHUMP00000034550;OTTHUMP00000233275;complement C4b-binding protein CR-1-like protein;complement component receptor 1-like protein protein-coding ENSG00000197721 HGNC:2335 605886 VALIDATED 1347111 CRAC1 colorectal adenoma and carcinoma 1 7240710 10092300;12117880 338377 1334929;1336480;7187979 D15S118;D15S968 HGNC:20574 1603191 CRACR2A calcium release activated channel regulator 2A ENCODES a protein that exhibits calcium ion binding; INVOLVED IN activation of store-operated calcium channel activity; positive regulation of calcium ion transport; store-operated calcium entry; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; Golgi apparatus; membrane; INTERACTS WITH all-trans-retinoic acid; ethyl methanesulfonate; formaldehyde 12 12 12 p13.32 5338122 5484209 - 3722122 3862366 - 3612956 3753200 - 6480464;8554872 12477932;14702039;15489334;16189514;16344560;16713569;18029348;19478329;19946888;20379614;20418871;20708005;21993531;23088713;24204828 84766 H0YFI5;H7BXT2;Q9BSW2 ABBA01048774;ABBA01048775;ABBA01048776;ABBA01048777;AC005831;AC006207;AK057608;AK091124;AK304017;AMYH02025910;AMYH02025911;BC004524;BC150643;BU632650;BU634271;CH471116;CR627161;DB214079;KF455583;KF455584;KF455587;NM_001144958;NM_032680;XM_005253806;XM_006719020;XM_006719021;XM_006719022 AAH04524;AAI50644;ADZ15373;BAG64932;EAW88858;EAW88859;EAW88860;NP_001138430;NP_116069;Q9BSW2;XP_005253863;XP_006719083;XP_006719084;XP_006719085 Hs.504534 1693874;1693900;1725979;2155023;2156814;2179165;5016427;5022578;5022651;5024039 D11S2921;D16S325;D1S1423;G41240;G41241;G41242;G41257;G42627;G42640;G62283 DKFZp686G13246;EFCAB4B;FLJ33046;FLJ33805;MGC4266 CRAC channel regulator 2A;CRAC regulator 2A;Ca2+ release-activated Ca2+ (CRAC) channel regulator 2A;EF-hand calcium binding domain 4B;EF-hand calcium-binding domain-containing protein 4B;OTTHUMP00000238206;OTTHUMP00000238231;calcium release-activated calcium channel regulator 2A APPROVED protein-coding ENSG00000130038 HGNC:28657 10079 614178 VALIDATED 731412 CRABP2 cellular retinoic acid binding protein 2 This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2010] 1 1 1 q21.3 129740204 129746174 - 156669398 156675608 - 156699606 156713174 - 1580863;6480464;6771322;6484672 15950969;21621639 10531482;11909957;12477932;12482873;12844477;1309505;1321791;1334086;14766225;15225641;15342556;15489334;15866176;15870697;16211222;16215318;16237707;16344560;1654334;16710414;16912187;16979656;17187826;17484622;17553814;17893666;18029348;18343808;18955045;19056867;19173001;19173612;19648781;20019841;20308937;20413122;20622962;21139048;21319273;21414315;21605859;21693764;21697133;21890473;21906983;21998312;22010213;22153617;22275178;23000965;23327868;23833249;24059243;24269351;24687854;24709110;7563063;7704533;8048948;8381448;8999826;9154115;9238678;9600845;9737849;9737883 1382 P29373;Q5SYZ4 AB593017;ABBA01016650;AK312007;AL590666;AMYH02001978;AU126559;BC001109;BP231157;BT019827;CH471121;CR450357;HG492815;M68867;M97815;NM_001199723;NM_001878;XM_006711169 AAA52068;AAA58430;AAH01109;AAV38630;ABM83191;ABM87850;BAG34945;BAJ83972;CAG29353;EAW52921;EAW52922;NP_001186652;NP_001869;P29373;XP_006711232 Hs.405662 1685309;2151379;2218428;5022016;5120862 CRABP2;CRABP2_2897;GDB:376729;RH69209;RH80810 CRABP-II;RBP6;RP11-66D17.5 OTTHUMP00000038730;OTTHUMP00000038732;cellular retinoic acid-binding protein 2;cellular retinoic acid-binding protein II APPROVED protein-coding ENSG00000143320 HGNC:2339 08353 180231 REVIEWED 1603869 CRACR2B calcium release activated channel regulator 2B ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN store-operated calcium entry; FOUND IN cytoplasm (inferred); INTERACTS WITH 3,3',5-triiodo-L-thyronine; acetylsalicylic acid; atrazine 11 11 11 p15.5 894861 898627 + 826144 831991 + 826144 831991 + 6480464 12477932;14702039;15489334;16344560;17207965;20418871;21832049;23251661;23824909 283229 E9PHZ8;E9PK04;E9PPF3;E9PRE5;Q8N4Y2 ABBA01015212;AK075180;AK097334;AK127926;AK304093;AMYH02024153;AP006621;BC033196;BC073821;BG674461;BU621015;BX104079;CH471158;CQ783262;DA967563;DB161031;DN997084;GU952799;NG_007478;NM_001286606;NM_173584;XM_005252871;XM_005252872;XM_006718194;XM_006718195;XM_006718196;XM_006718197;XM_006718198;XM_006718199;XM_006718200;XM_006718201;XM_006718202;XM_006718203;XM_006718204;XM_006718205 AAH33196;AAH73821;ADD96763;ADQ32106;BAC11455;BAC87194;BAG64999;CAF86467;EAX02397;EAX02398;EAX02399;NP_001273535;NP_775855;Q8N4Y2;XP_005252928;XP_005252929;XP_006718257;XP_006718258;XP_006718259;XP_006718260;XP_006718261;XP_006718262;XP_006718263;XP_006718264;XP_006718265;XP_006718266;XP_006718267;XP_006718268 Hs.660936 1778699 RH47994 EFCAB4A;FLJ46033;MGC45840;MGC88858 CRAC channel regulator 2B;CRAC regulator 2B;Ca2+ release-activated Ca2+ (CRAC) channel regulator 2B;EF-hand calcium binding domain 4A;EF-hand calcium-binding domain-containing protein 4A;OTTHUMP00000229161;OTTHUMP00000229163;calcium release-activated calcium channel regulator 2B APPROVED protein-coding ENSG00000177685 HGNC:28703 14645 614177 VALIDATED 1322237 CRADD CASP2 and RIPK1 domain containing adaptor with death domain The protein encoded by this gene is a death domain (CARD/DD)-containing protein and has been shown to induce cell apoptosis. Through its CARD domain, this protein interacts with, and thus recruits, caspase 2/ICH1 to the cell death signal transduction complex that includes tumor necrosis factor receptor 1 (TNFR1A), RIPK1/RIP kinase, and numbers of other CARD domain-containing proteins. [provided by RefSeq, Jul 2008] 12 12 12 q21.33-q23.1 93741644 93915013 + 94071121 94289530 + 93677346 93895754 + 1580863;6480464;6484113;8699517;7240710;8554872 10713730;11002417;11156409;11832478;12477932;15073321;15489334;16169070;16360037;16434054;16652156;17329820;18391951;19125251;19582216;19593445;20208132;20237496;20406701;20546612;20677014;20881960;21415862;21832049;21988832;22279524;22623531;23049853;23535033;8617505;8889549;8985253;9044836;9695946;9806843 8738 B7Z2Q5;F5H7C2;F8VV49;F8VVY5;P78560;Q53XL1 AA150833;AB451280;AB451412;ABBA01053371;ABBA01053372;AC012085;AC012464;AC025261;AI791547;AK294986;AK296225;AK314861;AMYH02026948;AMYH02026949;BC017042;BC037905;BT009837;CD696130;CH471054;CR407643;KF495766;NG_032159;NM_003805;U79115;U84388;XM_005269211 AAB42217;AAC50952;AAH17042;AAH37905;AAP88839;ABM82706;ABM85890;BAG37377;BAG58948;BAG70094;BAG70226;BAH11941;CAG28571;EAW97497;NP_003796;P78560;XP_005269268 Hs.38533;Hs.591016;Hs.719191 1337242;1668232;1674753;1696924;1722565;1746485;1746593;1746639;1749943;1846753;2137821;2142885;2149652;2182372;2186450;2217190;5105218 CRADD_3916;D12S1037;D12S1044;D12S1346;D12S394;G60211;G64465;G64466;G64524;G64526;RH101930;RH11222;RH46265;RH68127;SHGC-111655;SHGC-36307;SHGC-54268 MGC9163;MRT34 OTTHUMP00000243498;RAIDD;RIP-associated ICH1/CED3-homologous protein with death domain;RIP-associated protein with a death domain;caspase and RIP adapter with death domain;caspase and RIP adaptor with death domain;death adaptor molecule RAIDD;death domain containing protein CRADD;death domain-containing protein CRADD APPROVED protein-coding ENSG00000169372 HGNC:2340 04584 603454;614499 REVIEWED 1323669 CRAMP1L Crm, cramped-like (Drosophila) ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; arsenite(3-); benzo[a]pyrene diol epoxide I 16 16 16 p13.3 1876914 1940183 + 1662495 1727909 + 1614640 1677908 + 6480464 10718198;11157797;12477932;14702039;24816145 57585 A7MD53;B2RNX8;H7C194;Q96RY5 AB037847;ABBA01030299;ABBA01030300;AK056087;AK095591;AL031009;AL031708;AMYH02031235;BC137172;BC137173;BC152477;BE048705;BM451163;CH471112;NM_020825;Z97652 AAI37173;AAI37174;AAI52478;BAA92664;EAW85640;EAW85641;NP_065876;Q96RY5 Hs.603676 1777812 RH45262 HN1L;MGC176736;TCE4 Crm (Cramped Drosophila)-like;OTTHUMP00000082731;OTTHUMP00000211854;T-complex expressed gene 4;hematological and neurological expressed 1-like protein;protein cramped-like protein-coding ENSG00000007545 HGNC:14122 13092 VALIDATED 1350289 CRAT carnitine O-acetyltransferase This gene encodes carnitine acetyltransferase (CRAT), which is a key enzyme in the metabolic pathway in mitochondria, peroxisomes and endoplasmic reticulum. CRAT catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acylCoA/CoA in the subcellular compartments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 9 9 9 q34.1 102509370 102525353 - 131857073 131873070 - 129094794 129110791 - 1580863;6480464;8554872 11001805;12077440;12477932;12526798;12562770;1456745;15099582;15489334;16756494;19553674;19913121;20178365;20628086;20677014;20877624;22002062;23485643;2351134;24654937;7829107;7945262 1384 A6PVN3;B7ZBP5;F2Z2C5;H0Y4Z7;H7C0E1;P43155 ABBA01043916;AK313931;AL158151;AL523652;AMYH02021731;BC000723;BI460020;BI752361;BQ068230;BT006801;CH471090;NM_000755;NM_001257363;X78706;X79825;XM_005251706;XM_005251707;XM_005251708;XM_005251709 AAH00723;AAP35447;CAA55359;EAW87873;EAW87874;EAW87875;NP_000746;NP_001244292;P43155;XP_005251763;XP_005251764;XP_005251765;XP_005251766 Hs.12068 1786984;1800772;1806662;1809516;1813756;1814094;1814388;1815770;1816426;1817028;1817516;1820880;1821418;1822936;1824678;1826368;1829802;1834378;1836112;1840754;1930790;1930792;1930794;1930796;1930798;1930800;1930802;1930804;1930806;1930808;1930810;1930812;1930814;1930816;1930818;1930820;1930822;1930824;1930826;1930828;1930830;1930832;1930834;1930836;1930838;1930840;1930842;1930844;1930846;1930848;1930850;1930852;1930854;1930856;1930858;1930860;1930862;1930864;1930866;1930868;1930870;1930872;1930874;1930876;1930878;1930880;1930882;1930884;1930886;1930888;1930890;1930892;1930894;1930896;1930898;1930900;1930902;1930904;1930906;1930908;1930910;1930912;1930914;1930916;1930918;1930920;2171564;2208268;2208270;2208272;2208274;2208276;2208278;2208280;2208282;2208284;2208286;2208288;2208290;2218756 Bda93f06;CRAT_4187;ECD01248;ECD04288;ECD05750;ECD07901;ECD08076;ECD08223;ECD08923;ECD09255;ECD09563;ECD09808;ECD11516;ECD11793;ECD12556;ECD13437;ECD14297;ECD16034;ECD18337;ECD19217;ECD21568;REN36224;REN36225;REN36226;REN36227;REN36228;REN36229;REN36230;REN36231;REN36232;REN36233;REN36234;REN36235;REN36236;REN36237;REN36238;REN36239;REN36240;REN36241;REN36242;REN36243;REN36244;REN36245;REN36246;REN36247;REN36248;REN36249;REN36250;REN36251;REN36252;REN36253;REN36254;REN36255;REN36256;REN36257;REN36258;REN36259;REN36260;REN36261;REN36262;REN36263;REN36264;REN36265;REN36266;REN36267;REN36268;REN36269;REN36270;REN36271;REN36272;REN36273;REN36274;REN36275;REN36276;REN36277;REN36278;REN36279;REN36280;REN36281;REN36282;REN36283;REN36284;REN36285;REN36286;REN36287;REN36288;REN36289;SHGC-145966;stSG628190;stSG628191;stSG628192;stSG628193;stSG628194;stSG628195;stSG628196;stSG628197;stSG628198;stSG628199;stSG628200;stSG628201 CAT;CAT1 OTTHUMP00000161683;carnitine acetylase;carnitine acetyltransferase APPROVED protein-coding ENSG00000095321 HGNC:2342 08971 600184 REVIEWED 1320564 CRB1 crumbs family member 1, photoreceptor morphogenesis associated This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012] 1 1 1 q31-q32.1 170362823 170573037 + 197170592 197447585 + 197201462 197478455 + 1600967;1600966;1580863;6480464;7240710;8552784;8552694;8552692;8552697;8552698;8552785;8552788;8554872;8699517 10508521;12632326;15623792;17234588;20956273;24339791;24346171;24432192;24715753 10373321;11231775;11389483;11559858;11734541;11850624;11927608;12477932;12567265;12573663;12700176;12843338;15024725;15174051;15459956;15914641;16272259;16505055;16543197;16710414;16767206;16936081;17353931;17724218;17988153;18334942;18682814;19407021;19753312;20032318;20301475;20301590;20591486;20801516;20805571;20816195;21757580;22065545;22219627;22863181;22876132;23001562;23077403;23362850;23379534;23443024;23449718;23592920;23871396;24138049;24664696;8001962;8646891 23418 A8K118;B7Z824;B7Z826;F5H0L2;P82279 AB208923;ABBA01027591;ABBA01027592;ABBA01027593;ABBA01027594;ABBA01027595;ABBA01027596;AF154671;AJ748821;AK289733;AK299367;AK299368;AK302818;AK302826;AK307844;AL136322;AL139136;AL356315;AL513325;AMYH02002428;AMYH02002429;AMYH02002430;AMYH02002431;AMYH02002432;AY043322;AY043323;AY043324;AY043325;BC136271;BC143726;BX640729;CH471067;DC370545;DC370777;NG_008483;NM_001193640;NM_001257965;NM_001257966;NM_201253;NR_047563;NR_047564;XM_006711249;XM_006711250 AAF01361;AAI36272;AAL10680;AAL10681;AAL10682;BAD92160;BAF82422;BAH13017;BAH13018;BAH13810;BAH13812;CAE45845;CAG38658;EAW91277;NP_001180569;NP_001244894;NP_001244895;NP_957705;P82279;XP_006711312;XP_006711313 Hs.126135 1674746;1683689;1692682;1699142;1705706;1719903;1724145;1765195;1789222;2113668;2145164;2158561 AB072758;AFM329vc1;AL034109;G65609;RH103147;RH121207;RH123645;RH91397;SHGC-148695;SHGC-76093;SHGC-83435;STS-N59646 LCA8;RP12 OTTHUMP00000033687;OTTHUMP00000033690;OTTHUMP00000180665;crumbs homolog 1 APPROVED protein-coding ENSG00000134376 HGNC:2343 05019 172870;600105;604210;613835 REVIEWED 1347869 CRB2 crumbs family member 2 ENCODES a protein that exhibits aspartic-type endopeptidase inhibitor activity; enzyme binding; INVOLVED IN negative regulation of endopeptidase activity; cardiovascular system development (ortholog); maintenance of epithelial cell apical/basal polarity (ortholog); ASSOCIATED WITH Leber Congenital Amaurosis (ortholog); Retinitis Pigmentosa (ortholog); FOUND IN extracellular vesicular exosome; protein complex; INTERACTS WITH atrazine; trichostatin A; valproic acid 9 9 9 q33.3 96766676 96789262 + 126118448 126141034 + 123356167 123380335 + 6480464;8552784;8552786 24339791;24493795 11439336;14702039;14767562;15164053;15851977;16344560;17190600;17988153;19056867;20299451;20583170 286204 Q5IJ48;Q8N930 ABBA01043724;ABBA01043725;ABBA01043726;ABBA01043727;AK095783;AK123000;AK124819;AK126775;AL365504;AL445489;AMYH02021613;AMYH02021614;AY720432;CH471090;CX871675;DA240339;NM_173689;NR_104603;XM_005251934 AAU14134;BAC04626;BAC86684;EAW87567;EAW87568;NP_775960;Q5IJ48;XP_005251991 Hs.568340;Hs.710092 1680805;1682972 RH79586;RH94250 FLJ16786;FLJ38464;RP11-230L22.2 OTTHUMP00000022087;OTTHUMP00000162340;crumbs homolog 2;crumbs-like protein 2 APPROVED protein-coding ENSG00000148204 HGNC:18688 13093 609720 VALIDATED 1321492 CRBN cereblon This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 3 3 3 p26.2 3130511 3160615 - 3191317 3221401 - 3149633 3179717 - 737633;1580863;6480464;7240710;8554872;8699517 12477932 10931946;10932263;14702039;15489334;15557513;16964240;17207965;17380424;18029348;18414909;19295130;19615732;20131966;20223979;20360068;21139048;21145461;21232561;21860026;21890473;22542470;22698399;23000965;23026050;23218918;23233657;23434730;23455924;23983124;23992230;24118365;24129344;24166296;24292623;24328678;24529757;24687382;25043012;25108355 51185 J3QT51;J3QT87;Q96SW2 AA991754;ABBA01020485;AC024060;AF117230;AK027507;AK058191;AK123077;AK301423;AK312577;AL711072;AMYH02006159;BC017419;BC059171;BC067811;BX647351;CH471055;CR627060;DB456585;NG_016864;NM_001173482;NM_016302;XM_005265202 AAF17211;AAH17419;AAH67811;ADQ31943;ADZ15415;BAB55162;BAG35471;BAG62951;CAH10361;EAW63890;EAW63891;EAW63892;EAW63893;EAW63894;EAW63895;EAW63896;EAW63897;NP_001166953;NP_057386;Q96SW2;XP_005265259 Hs.18925 1337046;1341781;1689947;2123258;2126731;2142165;2160362 D3S1560;D3S2777E;D3S3525;RH93809;SHGC-34652;SHGC-76662;WI-20982 DKFZp781K0715;MGC27358;MRT2;MRT2A OTTHUMP00000115288;OTTHUMP00000209554;OTTHUMP00000209555;protein cereblon;protein x 0001 APPROVED protein-coding ENSG00000113851 HGNC:30185 16750 607417;609262 REVIEWED 1348954 CRB3 crumbs family member 3 This gene encodes a member of the Crumbs family of proteins. This protein may play a role in epithelial cell polarity and is associated with tight junctions at the apical surface of epithelial cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 6404086 6407058 + 6463788 6467232 + 6463777 6467221 + 1580863;6480464;8554872 11964389;12477932;12527193;12771187;12975309;14718572;15146197;15489334;15976445;17332497;17646395;17988153;19056867;23439680 92359 Q9BUF7 ABBA01051456;AC010503;AF503290;AK000653;AK292956;AMYH02035354;AY103469;AY358684;BC002652;BC018409;BM129809;CH471139;CN403242;NG_029879;NM_139161;NM_174881;XM_005259680 AAH02652;AAH18409;AAM23013;AAM44074;AAQ89047;BAF85645;EAW69083;EAW69084;EAW69085;EAW69086;NP_631900;NP_777377;Q9BUF7;XP_005259737 Hs.150319 2218432 CRB3_4634 crumbs 3;crumbs homolog 3;crumbs protein homolog 3 APPROVED protein-coding ENSG00000130545 HGNC:20237 16749 609737 REVIEWED 1601760 CRCP CGRP receptor component This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 q11.21 66494042 66533870 - 65579805 65619555 + 66114818 66154568 + 6480464 10067875;10903324;11754963;11804624;11937264;12128288;12391170;12477932;12482973;12490608;14702039;15489334;15592455;15636430;16344560;16406141;17853344;18636754;18654987;19053766;19913063;20099900;20379614;21223598;21906983;22074408;22939629;8622957 27297 H7BY40;O75575 ABBA01048995;ABBA01048996;ABBA01048997;ABBA01048998;AC068533;AF073792;AK023295;AK290553;AK303737;AK311829;AMYH02015897;AMYH02015898;BC040107;BC052570;BC105808;BI600330;BX647867;CH236961;CH471140;DA821665;DA955978;DB472426;NM_001040647;NM_001040648;NM_001142414;NM_014478;NR_024548;U51134 AAC25992;AAD05036;AAH40107;AAI05809;BAF83242;BAG34771;BAG64710;CAI46069;EAX07941;EAX07942;EAX07943;NP_001035737;NP_001035738;NP_001135886;NP_055293;O75575 Hs.300684 1697864;1772649;2106585;2120959;2140733;2171129;5014003;5016478;5020948;5022578 D17S1136;D1S1423;D7S2002;D7S706;G35510;GDB:1317206;GDB:434012;GDB:4585105;RCP9__5664;RH102459 CGRP-RCP;CGRPRCP;MGC111194;RCP;RCP9;hsC17 CGRP-receptor component protein;DNA-directed RNA polymerase III subunit RPC9;OTTHUMP00000159905;OTTHUMP00000210319;OTTHUMP00000210320;OTTHUMP00000210321;RNA polymerase III subunit C9;calcitonin gene-related peptide-receptor component protein APPROVED protein-coding ENSG00000241258 HGNC:17888 12089 606121 REVIEWED 1353300 CRCT1 cysteine-rich C-terminal 1 INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-) 1 1 1 q21 125597793 125599296 + 152486978 152488481 + 152514502 152516005 + 6480464 11230159;12477932;16169070;16710414;21804549;23251661 54544 Q9UGL9 ABBA01049418;AJ243662;AL135842;AMYH02001893;BC119710;CH471121;CR457218;JB025804;NM_019060 AAI19711;CAB65093;CAG33499;CCV20020;EAW53379;NP_061933;Q9UGL9 Hs.110196 1696906;2187460 RH101920;SHGC-57801 C1orf42;NICE-1 OTTHUMP00000014328;cysteine-rich C-terminal protein 1 protein-coding ENSG00000169509 HGNC:29875 16635 VALIDATED 730886 CREB1 cAMP responsive element binding protein 1 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 2 q34 202156105 202231803 + 208394616 208470284 + 207529892 207605560 + 734815;734818;734817;734816;1580863;1625706;6480464;6484113;6907045;7240710;8699517 11557984;11967539;14614508;16891311;9616213 10074179;10506141;10567391;10650954;10720489;10722738;10781615;10848610;10866654;10886376;10909971;10945975;11013247;11018520;11046156;11156964;11160957;11175347;11259575;11313407;11377386;11500364;11564156;11572863;11698596;11909979;11988318;12091337;12145339;12162494;12183445;12196545;12198160;12200150;12220644;12235136;12368293;12391146;12391222;12437352;12477932;12519783;12552083;12567184;12622660;12665587;12676584;12690113;12720543;12743114;12773552;12776737;12805224;12829027;12851637;1386673;14506290;14523007;14580193;14597631;14597636;1461747;14635195;14646589;14702039;14742439;14754893;14761884;14764597;14962944;15073328;15077295;15082775;15153340;15276183;15340044;15454081;15489334;15500908;15579595;15585582;15588513;15615708;15688015;15691874;15691881;15694837;15703171;15733869;15753290;15806162;15837624;15879136;15897899;15901830;15917247;15961999;15964553;15999345;16007092;16134057;16158061;16169070;16207717;16207795;16223362;16227528;16282323;16293623;16306050;16325578;16330542;16339753;16449647;16483570;1655749;16598418;16611888;16675956;16799563;16820098;16822311;16896160;16920714;16963449;16978443;16980615;17082618;17169345;17202341;17276404;17289023;17300755;17310988;17389598;17426037;17449469;17455223;17460549;17476304;17507637;17548750;17565597;17565598;17565599;17565603;17573727;17592483;17646388;17661722;17712720;17724745;17727817;17786359;17805329;17822787;17827388;17889508;17909078;17975014;18022816;18024382;18029348;18034423;18070920;18160048;18189280;18191017;18287226;1831258;18375384;18396147;18457359;18483184;18485898;18511806;18554190;18599546;18606955;18626018;18660489;18676828;18678793;18713830;18717645;18775326;18792986;18801732;18922788;18930904;18988190;19001277;19070599;19100722;19113914;19136032;19138976;19156168;19164291;19194961;19196967;19199539;19201889;19211892;19223597;19244110;19251839;19279000;19289467;19298866;19340314;19351775;19416972;19426590;19473990;19517574;19531482;19548263;19553322;19561568;19578717;19614745;19632326;19632997;1966745;19718656;19762740;19786833;19797430;19815709;19822084;19822898;19842072;19844206;19861239;19874574;19875824;19913121;19956847;20018896;20032081;20033853;20037212;20089855;20097716;20100571;20101207;20136501;20160059;20198332;20198339;20211142;20219685;20237496;20398657;20402410;20403362;20407090;20407870;20447464;20468064;20473547;20498639;20533262;20536573;20541704;20573984;20599715;20624818;20628086;20643483;20682687;20685939;20693566;20805990;20881124;20936779;20943350;20945072;20974683;20979795;21034562;21044077;21075212;21079758;21084670;21139048;21172805;21212407;21215389;21268077;21295542;21315782;21325281;2138276;21398611;2142119;2142528;21483768;21497119;21598377;21644508;21705328;21706049;21734652;21784978;21816823;21832046;21890473;21956116;21988832;21997693;21998402;22027994;22072831;22127929;22180334;22185778;22198373;22219277;22253425;22267179;22271686;22285928;22293360;22294156;22325466;22349818;22383952;22386572;22469229;22505473;22510762;22531917;22539488;22561749;22570239;22574704;22609331;22627767;22669896;22726539;22743041;22787115;22922957;22939629;23000965;23011268;23019365;23020846;23032945;23038261;23049845;23055509;23086924;23100280;23127979;23143030;23168992;23185366;23195957;23213254;23220172;23297769;23382074;23382855;23403511;23417028;23462962;23469012;23494562;23504989;23526216;23532963;23537502;23543137;23619509;23661758;23708553;23727510;23814058;23838680;23844928;23846693;23857777;23894352;23896026;23979134;24025972;24041570;24055910;24065533;24085294;24233491;24244341;24250222;24289115;24315104;24316029;24338025;24651445;24792438;24796664;24816145;24836190;2974179;7505393;7551568;7554179;7565761;7608156;7619208;7621901;7769693;7809053;8381074;8384217;8449898;8552098;8628277;8663317;8688081;8798441;8887554;9065434;9388250;9413984;9558095;9671480;9687510;9770464;9786917;9792677;9829964;9873047 1385 B7Z7P1;C9J276;C9J4L5;C9J896;C9JBT4;C9JCI4;E7EWP8;H7C1R5;H7C3I0;P16220;Q53X93;Q5U0J5 ABBA01062679;ABBA01062680;AC009298;AC079767;AK091534;AK095116;AK123952;AK126342;AK298740;AK302333;AK312747;AK315226;AMYH02005643;AMYH02005644;AW205606;AY347527;BC010636;BC095407;BT019509;CH471063;CR407617;CS542417;DC366797;M27691;M34356;NG_023299;NM_004379;NM_134442;S53722;S53724;S72459;S78693;S78695;X55545;X60003;XR_241289;XR_241290;XR_241292;XR_427071 AAA35715;AAA35716;AAA35717;AAB20597;AAB34949;AAB34950;AAD13869;AAH10636;AAH95407;AAQ24858;AAV38316;AAX88961;AAX93174;ABM82083;ABM85262;BAG35615;BAG37655;BAH12862;BAH13677;CAA39151;CAA42620;CAG28545;CAM91158;EAW70405;EAW70406;EAW70407;EAW70408;EAW70409;EAW70410;NP_004370;NP_604391;P16220 Hs.516646 1645173;1795620;2121818;2172435 CREB1_1411;D2S2634;RH67919;SGC35219 CREB;CREB-1;MGC9284 OTTHUMP00000163864;OTTHUMP00000163865;OTTHUMP00000206660;OTTHUMP00000206661;OTTHUMP00000206662;OTTHUMP00000206667;active transcription factor CREB;cAMP-response element-binding protein-1;cAMP-responsive element-binding protein 1;cyclic AMP-responsive element-binding protein 1;transactivator protein APPROVED protein-coding HGNC:2345 00442 123810;612160 REVIEWED 1342471 CREB3L1 cAMP responsive element binding protein 3-like 1 The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013] 11 11 11 p11.2 46447593 46490563 + 46299189 46342972 + 46277638 46321422 + 1580863;6480464;6907045;8554872 12054625;12477932;12805554;16344560;17721195;21041443;21536545;21767813;21987447;22705851;23335989;23383089;23588368;23661758;23955342;24126059;24242870;24441665;24722188;8051045;8619474;8889548;9110174 90993 B2RA75;E9PK33;H0YEU7;Q96BA8 AB063321;ABBA01060749;AC116021;AF055009;AK075538;AK314072;AMYH02024697;BC014097;BC015781;BQ953032;CF131922;CH471064;DA693632;KF459675;NG_033264;NM_052854;XM_006718380 AAH14097;AAH15781;ABM86735;ABW03816;BAC01278;BAC11681;BAG36772;EAW68010;NP_443086;Q96BA8;XP_006718443 Hs.405961 2150311 G29176 BBF-2 homolog;OASIS;OTTHUMP00000232855;cAMP-responsive element-binding protein 3-like protein 1;cyclic AMP-responsive element-binding protein 3-like protein 1;old astrocyte specifically induced substance;old astrocyte specifically-induced substance protein-coding ENSG00000157613 HGNC:18856 16751 REVIEWED 1318829 CREB3 cAMP responsive element binding protein 3 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-response element and regulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. This protein also plays a role in leukocyte migration, tumor suppression, and endoplasmic reticulum stress-associated protein degradation. Additional transcript variants have been identified, but their biological validity has not been determined.[provided by RefSeq, Nov 2009] 9 9 9 p13.3 35665867 35670555 + 35732317 35737005 + 35732320 35737008 + 1580863;6480464;6907045;8554872 10623756;10629049;10675342;10984507;11384994;12138176;12235138;12271126;12477932;12805554;15001559;15489334;15705566;15845366;16189514;16940180;17054986;17192849;17296613;18189280;18391022;19460752;19779205;20195357;20473547;20546900;21906983;21988832;22004728;22009750;23023215;23077317;23079381;23583719;23661758;24185178;9271389;9389645;9658067 10488 O43889 ABBA01064987;AF009368;AF029674;AF211847;AF211848;AK299781;AK313635;AL133410;AMYH02019464;BC009402;BC010158;BG701230;BQ014045;CH471071;FJ263669;NM_006368;U59629;U88528 AAB69652;AAB84166;AAC04325;AAD09210;AAG43527;AAG43528;AAH09402;AAH10158;ABZ92397;ACN32251;BAG36394;BAG61663;EAW58350;EAW58351;NP_006359;O43889 Hs.522110 1670551;1768836;2134503;5018941 RH11800;RH79942;WI-19282;WI-20292 CREB-3;LZIP;MGC15333;MGC19782 OTTHUMP00000021348;basic leucine zipper protein;cAMP-responsive element-binding protein 3;cyclic AMP response element (CRE)-binding protein/activating transcription factor 1;cyclic AMP-responsive element-binding protein 3;leucin zipper proitein;leucine zipper protein;luman;transcription factor LZIP-alpha APPROVED protein-coding ENSG00000107175 HGNC:2347 606443 REVIEWED 1317760 CREB3L3 cAMP responsive element binding protein 3-like 3 This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 19 19 19 p13.3 4093112 4112507 + 4153598 4173051 + 4153601 4173054 + 6480464;6907045;8554872 11353085;12039695;12477932;12805554;15221005;16469704;16713569;17875199;18029348;19679815;21693703;21988832;21994947;22262056;23661758;23957007 84699 Q68CJ9;Q9Y4A3 AB050902;AB073612;ABBA01056084;ABBA01056085;ABBA01056086;AC005620;AC016586;AK172839;AK313099;AMYH02035277;BC101504;BC101508;BC143609;BC143610;CH471139;DA210258;NM_001271995;NM_001271996;NM_001271997;NM_032607 AAC34469;AAI01505;AAI01509;AAI43610;ABZ92411;BAB47242;BAD18804;BAD38649;BAG35923;EAW69260;EAW69261;NP_001258924;NP_001258925;NP_001258926;NP_115996;Q68CJ9 Hs.247744 1783778;1783860 SHGC-108116;SHGC-86359 CREB-H;CREBH;HYST1481;MGC126553;MGC126557 CREB/ATF family transcription factor;cAMP-responsive element-binding protein 3-like protein 3;cyclic AMP-responsive element-binding protein 3-like protein 3;transcription factor CREB-H APPROVED protein-coding ENSG00000060566 HGNC:18855 16752 611998 REVIEWED 1314429 CREB3L2 cAMP responsive element binding protein 3-like 2 This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 7 7 7 q34 132298692 132425654 - 137559725 137686847 - 137874979 138002101 - 6480464;6907045 12477932;12690205;12915480;15146197;17117415;17178827;17721195;18255255;18757431;19212619;19322201;19471022;20360068;20379614;20471519;20878102;21041443;21536545;21693764;21890473;21906983;21963094;21988832;22495181;23955342;8051045 64764 C9JPH0;H7C1W8;Q68D60;Q70SY1 ABBA01001151;ABBA01001152;ABBA01001153;ABBA01001154;AC009263;AC022173;AJ549092;AJ549387;AK131517;AK293048;AL080209;AMYH02016850;AMYH02016851;AMYH02016852;BC015585;BC046181;BC063666;BC110813;BC131723;BQ711676;BX648300;BX649143;CH236950;CH471070;CN394705;CR749563;KF458623;NM_001253775;NM_194071;XM_005250541 AAH46181;AAH63666;AAI10814;AAI31724;ABZ92049;BAD18659;BAF85737;CAD79342;CAD79347;CAH18360;EAL24050;EAW83878;EAW83879;EAW83880;NP_001240704;NP_919047;Q70SY1;XP_005250598 Hs.490273 1645941;1654674;1664474;1767581;1770277;1770279;1786238;2123080;2133291;2140166;2169012;2173904 A006D34;D7S1898;D7S2910;D7S737;G20729;GDB:1318288;GDB:4585629;SHGC-132011;SHGC-32616;SHGC-37420;SHGC-52613;STS-N24079 BBF2H7;MGC131709;MGC71006 B-ZIB transcription factor;BBF2 human homolog on chromosome 7;FUS/BBF2H7 protein;OTTHUMP00000208572;OTTHUMP00000208573;TCAG_1951439;basic transcription factor 2;cAMP-responsive element-binding protein 3-like protein 2;cyclic AMP-responsive element-binding protein 3-like protein 2 APPROVED protein-coding ENSG00000182158 HGNC:23720 16391 608834 VALIDATED 1606026 CREB5 cAMP responsive element binding protein 5 The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 7 7 7 p15.1 28328521 28855112 + 28338940 28865511 + 28299321 28825894 + 6480464;6907045;8554872 11329013;12477932;12853948;14702039;15489334;15576338;18519826;18839057;19056867;19240061;20080650;20379614;21441570;21666788;21890473;22837378;23000965;23128233;24047446;24639526;25076032;8378084;8440710;9847074 9586 C9JN33;H0YFV2;H9KVC5;Q02930 AB209262;AB451409;ABBA01056781;ABBA01056782;ABBA01056783;ABBA01056784;ABBA01056785;ABBA01056786;ABBA01056787;ABBA01056788;ABBA01056789;ABBA01056790;AC003074;AC005013;AC005105;AC006331;AC006367;AC006980;AK057151;AK292916;AK300455;AK316187;AMYH02015427;AMYH02015428;AMYH02015429;BC059400;BG199550;BX282747;CH236948;CH471073;KF458420;KF458421;KF511011;KF511013;L05515;L05911;L05912;L05913;NM_001011666;NM_004904;NM_182898;NM_182899;XM_005249906 AAA52072;AAC37525;AAC37526;AAC37527;AAH59400;AAP22329;AAS00387;BAD92499;BAF85605;BAG62175;BAG70223;BAH14558;EAW93908;EAW93909;EAW93910;NP_001011666;NP_004895;NP_878901;NP_878902;Q02930;XP_005249963 Hs.437075 1337999;1660627;1685680;1695768;1706110;1706962;1711836;1711838;1711840;1711842;1728693;1756521;1778863;1779111;1786460;2139573;2157784;2174980;2181254;2182011;2184747;5022677 AFMA245YE5;CREB5;D7S2213;D7S2515;D7S2772;D7S2831;D7S773;G49449;G49450;G49451;G49452;G63718;GDB:1317536;RH69228;RH92718;SHGC-143554;SHGC-172599;SHGC-56017;SHGC-56018;SHGC-80093;SHGC-80979;SHGC-82531 CRE-BPA;CREB-5;H_GS165L15.1 OTTHUMP00000122602;OTTHUMP00000122603;OTTHUMP00000202430;OTTHUMP00000202431;OTTHUMP00000202432;cAMP response element binding protein CRE-Bpa;cAMP response element-binding protein CRE-BPa;cAMP responsive element binding protein 5 isoform alpha;cAMP-responsive element-binding protein 5;cyclic AMP-responsive element-binding protein 5 APPROVED protein-coding ENSG00000146592 HGNC:16844 09896 REVIEWED 1347233 CREB3L4 cAMP responsive element binding protein 3-like 4 This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 1 q21.3 127012147 127018583 + 153940315 153946840 + 153967839 153974364 + 6480464;6907045 11830526;11956138;12111373;12477932;12732631;16236796;16344560;16595651;17712038;17933519;18068530;21906983;21988832;22505724;22903471 148327 B4DMZ9;Q5T4K9;Q5T4L1;Q5T4L2;Q8TEY5 AA652478;AB052778;AB052781;ABBA01049459;ABBA01049460;AF394167;AF468007;AK297703;AK304259;AK304665;AL358472;AMYH02001912;AY049977;BC038962;BF681098;BX647716;CH471121;DB012316;NM_001255978;NM_001255979;NM_001255980;NM_001255981;NM_130898;NR_045658;XM_006711172 AAH38962;AAL13157;AAL76113;AAO33070;ABZ92414;ACE87807;ACE87849;ACT64368;ACT64475;BAC45035;BAC45224;BAG60061;BAG65125;BAG65440;EAW53251;EAW53252;EAW53253;EAW53254;EAW53255;EAW53256;EAW53257;EAW53258;NP_001242907;NP_001242908;NP_001242909;NP_001242910;NP_570968;Q8TEY5;XP_006711235 Hs.372924;Hs.745148 1688306;1778500;2117210;2141947;2164402;2218434 CREB3L4_4636;D1S2463;RH11825;RH63845;RH67852;WI-22571 ATCE1;CREB-4;CREB3;CREB4;JAL;hJAL;tisp40 AIBZIP;OTTHUMP00000035264;OTTHUMP00000035265;OTTHUMP00000035266;OTTHUMP00000035267;androgen-induced basic leucine zipper protein;attaching to CRE-like 1;cAMP responsive element binding protein 1;cAMP-responsive element-binding protein 3-like protein 4;cAMP-responsive element-binding protein 4;cyclic AMP-responsive element-binding protein 3-like protein 4;cyclic AMP-responsive element-binding protein 4;transcript induced in spermiogenesis protein 40 APPROVED protein-coding ENSG00000143578 HGNC:18854 06323 607138 VALIDATED 1319876 CREBL2 cAMP responsive element binding protein-like 2 cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and CDKN1B genes, frequently associated with hematopoietic malignancies, as well as breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding, followed by a leucine zipper motif involved in protein dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a tumor suppressor gene. [provided by RefSeq, Jul 2008] 12 12 12 p13 17908970 17942189 + 12764831 12798041 + 12611833 12645108 + 1580863;6480464;8554872 12477932;14702039;16368877;19322201;23077088;23273568;8653712;9171997;9693048 1389 O60519;Q2PQI3 AB451461;ABBA01067844;ABBA01067845;AC008115;AF039081;AI375846;AK002189;AK307202;AMYH02026061;BC104873;BC106052;BC112157;BY795169;CH471094;CR542250;DQ307498;NM_001310 AAC32314;AAI04874;AAI06053;AAI12158;ABC24665;BAG70275;CAG47046;EAW96268;EAW96269;EAW96270;NP_001301;O60519 Hs.591156 1662121;1678607;1690984;1712146;1726041;1854263;2138126;2218438 CREBL2_4189;G41782;G54123;G62353;RH44732;RH80304;RH91260;STS-R64144 MGC117311;MGC138362 MHBs-binding protein 1;OTTHUMP00000239221;cAMP-responsive element-binding protein-like 2 APPROVED protein-coding ENSG00000111269 HGNC:2350 07541 603476 REVIEWED 1603892 CREBRF CREB3 regulatory factor ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN negative regulation of endoplasmic reticulum unfolded protein response; negative regulation of transcription from RNA polymerase II promoter; positive regulation of intracellular transport; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nuclear body; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 2-(2,6-dioxopiperidin-3-yl)-1H-isoindole-1,3(2H)-dione 5 5 5 q35.1 168516821 168599691 + 172483355 172566291 + 173056352 173139293 + 6480464;8554872 12477932;14702039;17353931;18391022;23071095 153222 E5RI19;Q8IUR6 ABBA01044028;ABBA01044029;ABBA01044030;ABBA01044031;AC008378;AK122675;AK124117;AK291677;AK297424;AK300043;AMYH02012764;AMYH02012765;AMYH02012766;AMYH02012767;AMYH02012768;AMYH02012769;AMYH02012770;AMYH02012771;AY139008;AY174896;AY635785;BC041709;BC043185;BX647573;BX647768;CH471062;NM_001168393;NM_001168394;NM_153607;XM_005265821;XM_006714822 AAH41709;AAN28956;AAO18732;AAV34175;BAF84366;BAG53659;BAG54011;BAG61854;BAH12579;CAI46039;CAI46104;EAW61414;EAW61415;EAW61416;NP_001161865;NP_001161866;NP_705835;Q8IUR6;XP_005265878;XP_006714885 Hs.484195 1647182;1653263;1668218;1685648;1711906;1780552;1780744;2161175;2177015;5015961 D15S1477;D5S2648;G49564;RH36114;RH45822;RH91831;SGC44431;WI-11500;bac51086T;bac51877T C5orf41;DKFZp313F2319;DKFZp686G2059;LRF OTTHUMP00000223581;OTTHUMP00000223582;OTTHUMP00000223583;UPF0474 protein C5orf41;adult retina protein;luman recruitment factor;luman-recruiting factor;luman/CREB3 recruitment factor APPROVED protein-coding ENSG00000164463 HGNC:24050 17308 VALIDATED 619552 CREBBP CREB binding protein This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009] 16 16 16 p13.3 3981749 4136789 - 3775055 3930121 - 3725054 3880120 - 1298794;1581226;1581227;734820;734819;1300048;1580863;2302032;2302137;2316155;2326123;5128512;5147892;6480464;6483358;6483503;6484113;6907045;7240710;5143919;7421504;8554872;8699517;8662965;9479075;9104959 10573006;10673499;11306337;12461753;12477714;16021471;16322555;16394250;16793760;17163421;18061509;19364912;19450511;20396958;20679336;21151613;21784126;24686119 10049825;10050886;10075656;10075717;10077561;10082512;10085123;10085149;10097092;10202154;10215616;10224118;10235267;10327051;10347196;10358095;10406465;10428834;10428837;10435624;10454341;10454579;10464260;10490106;10497212;10497242;10521456;10542243;10551785;10558993;10567404;10607594;10610177;10628748;10644760;10648616;10655477;10666450;10673036;10708567;10722728;10748110;10764767;10777539;10783242;10801129;10801418;10811635;10823891;10848577;10848596;10848610;10852958;10862050;10866654;10866662;10882110;10887155;10893273;10894151;10918613;10944526;10958685;10973497;11001584;11003650;11073948;11076796;11080476;11106745;11113179;11115394;11154691;11157802;11158331;11160671;11163245;11196199;11239394;11252719;11259575;11259590;11264541;11266503;11278547;11279015;11313407;11314014;11331617;11349124;11423988;11429405;11463380;11463815;11463834;11481323;11514544;11547919;11559821;11564156;11564891;11564893;11568182;11574547;11581372;11585930;11607033;11683914;11689696;11691934;11701890;11713256;11739381;11740489;11742995;11744733;11748222;11782371;11782467;11799127;11823864;11864601;11864910;11884585;11897665;11912212;11923478;11931765;11931769;11935299;11940575;11940655;11943779;11959977;11970865;11971985;11973335;12015309;12050117;12084707;12101239;12114483;12142048;12154097;12165799;12168567;12169688;12183445;12189208;12196545;12198160;12205094;12208951;12215533;12234245;12242694;12297501;12374746;12391146;12426395;12433930;12435739;12437352;12456660;12459554;12473110;12477932;12490527;12496368;12498683;12509444;12527917;12540838;12549909;12566391;12569367;12586840;12604599;12622724;12634356;12642036;12646247;12665567;12665568;12682370;12696060;12700228;12730195;12732631;12736710;12748276;12748286;12776737;12788643;12789342;12810069;12857754;12929931;12947046;12964026;13678586;14597638;14612417;14645221;14657027;14660657;14668346;14691252;14716005;14720327;14722092;14734447;14744133;14759370;14761981;14766010;14767476;14960326;14974086;15005629;15013777;15021911;15023334;15024056;15025563;15073328;15075319;15107417;15126506;15139295;15140884;15142377;15154850;15161102;15171256;15183343;1519642;15220471;15225550;15225551;15231748;15261140;15269212;15299023;15304484;15331439;15333839;15380363;15383283;15454081;15467747;15473004;15488321;15502848;15507449;15509593;15522869;15555599;15556564;15572674;15572696;15582653;15585582;15598887;15607964;15616580;15619633;15623506;15632413;15638724;15641773;15649887;15653507;15657427;15687488;15691881;15695802;15701835;15703171;15706485;15710329;15725353;15731352;15735682;15743834;15750622;15752756;15782138;15806143;15808510;15829968;15833741;15834423;15849193;15882811;15894584;15910736;15929978;15937088;15957955;15961999;15987677;15987788;15990875;15994095;15994313;16001085;16007092;16012757;16035254;16043483;16046164;16050810;16051665;16055500;16055710;16061203;16098148;16122695;16146763;16150697;16154084;16154098;16166624;16195339;16204234;16207717;16219677;16219772;16227615;16254053;16287980;16291753;16293623;16303757;16319895;16339753;16359492;16417649;16434701;16456924;16476742;16481475;16528103;16537920;16543236;16579968;16598755;16611888;16613851;16651408;16651533;16672767;16707484;16709925;16734381;16751102;16786139;16787918;16799563;16809786;16858508;16860316;16878156;16916647;16926151;16931570;16969114;17000779;17015689;17043108;17052327;17060459;17073437;17075044;17126870;17138826;17172643;17226766;17253932;17257825;17272271;17283070;17296583;17296604;17321669;17332504;17362989;17382325;17400812;17410209;17434128;17460549;17468767;17473832;17475621;17525332;17548929;17579344;17641689;17697320;17702016;17704997;17707401;17721610;17724614;17761676;17825790;17855048;17885668;17891136;17908689;17923090;17932106;17962194;17962807;17970752;18003620;18070920;18087039;18160400;18203716;18241676;18243132;18272581;18316612;18321663;18347063;18362468;18400184;18426857;18443043;18458062;18480431;18485870;18552123;18552833;18599546;18660489;18660751;18662994;18676374;18678383;18688873;18696186;18721470;18765668;19011377;19041714;19060202;19117933;19124506;19156168;19166313;19183483;19191321;19270680;19273602;19322201;19350377;19357310;19416967;19555349;19578754;19589780;19660582;19805293;19826003;19833603;19852432;19915063;19932681;19948376;19995607;20018896;20072153;20096957;20107328;20125191;20207472;20301699;20347598;20388487;20403362;20413592;20452968;20508149;20541699;20541704;20581830;20588308;20684013;20689175;20717166;20811636;20833730;20855292;20859991;20874444;20932315;20935208;20936779;20962272;20962278;21079652;21079758;21080944;21139048;21149449;21158719;21288140;2138276;21390126;21390130;21454660;21539536;21632823;21670263;21739721;21743959;21752352;2176177;21789216;21890473;21903422;21914189;21967847;21984751;22073215;22083956;22084066;22174264;22174411;22177454;22198284;22198373;22207202;22241478;22253417;22265015;22266860;22303793;22349818;22364282;22386572;22387215;22388726;22474372;22544934;22591219;22615488;22807441;22810585;22990118;23000965;23063576;23251661;23275444;23285190;23319000;23352794;23434580;23441852;23455922;23459443;23602568;23612972;23824799;23839013;23980173;24115570;24167073;24247805;24338025;24394593;24457600;24491799;24816145;7606928;7630403;7774816;7913207;8028671;8413673;8616895;8621548;8663317;8684459;8756728;8782817;8848048;8917528;8918891;8932363;8941362;8986769;8995708;9001254;9006899;9037008;9096323;9177780;9192892;9192902;9194564;9194565;9210395;9238046;9238849;9267036;9288775;9295363;9346901;9388250;9413984;9430642;9434765;9443979;9445475;9482849;9488450;9488451;9528793;9528808;9548485;9566918;9584200;9590696;9625762;9649342;9651391;9659901;9659924;9660935;9679056;9685505;9687573;9710619;9733868;9742083;9751061;9765204;9786917;9792714;9806899;9809062;9809067;9811832;9822653;9829964;9858599;9887100;9926942;9990060 1387 I3L0Q1;I3L293;I3L3I5;I3L466;Q92793 AB210043;ABBA01026749;ABBA01026750;ABBA01026751;AC004509;AC004651;AC004760;AC006111;AC007151;AK124320;AK304771;AMYH02031297;AMYH02031298;AMYH02031299;AMYH02031300;AMYH02031301;AMYH02031302;BC036486;CH471112;CS330044;HI574324;HI574326;NG_009873;NM_001079846;NM_004380;U47741;U85962;U89354;U89355;XM_005255124;XM_005255125;XM_006720848 AAC08447;AAC17736;AAC51331;AAC51339;AAC51340;AAC51770;AAH36486;BAE06125;BAG65526;CAL00150;CBX47651;CBX47652;EAW85334;EAW85335;EAW85336;EAW85337;NP_001073315;NP_004371;Q92793;XP_005255181;XP_005255182;XP_006720911 Hs.459759 1335865;1676728;1679493;1738865;1745913;1794642;1795622;1848865;1852454;1857943;2112914;2112918;2115964;2124807;2128104;2160027;2176653;2186244;2187823;2191027;5017693;5037552;5093394;7188393;7188395 A009N45;CREBBP;CREBBP_555;D16S2622-D16S3027;D16S2906;D16S3065;D16S3385;D16S3386;D8S2279;G32692;G64268;MARC_13559-13560:1000751712:1;PMC337043P1;RH65024;RH65203;RH66115;RH66116;RH68748;RH78556;SHGC-60562;STS-U89355;WI-22537;b10501s CBP;KAT3A;RSTS CREB-binding protein;OTTHUMP00000159801 APPROVED protein-coding ENSG00000005339 HGNC:2348 02534 180849;600140 REVIEWED 1603614 CREBZF CREB/ATF bZIP transcription factor ENCODES a protein that exhibits identical protein binding; INVOLVED IN negative regulation of gene expression, epigenetic; negative regulation of transcription, DNA-templated; regulation of sequence-specific DNA binding transcription factor activity; FOUND IN nucleus; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; formaldehyde 11 11 11 q14 82677923 82685497 - 85368608 85376182 - 85657564 85665138 - 6480464 10871379;12235138;12477932;15146197;15231748;15489334;15705566;16282471;16343488;16344560;18657049;18719857;19016376;19322201;19690166;21603654;21906983;21994947;22134986;22707059;22798206;22983008;23661758;24155933;24200963;24265317 58487 E9PIM0;E9PRP7;H0YDC7;J3KN20;Q9NS37 ABBA01017336;AF039942;AK313471;AL045702;AL110236;AMYH02025218;AP000642;BC060807;BC093796;BC093798;BF063403;BM461709;BQ720558;CA843387;CH471076;CN275782;DB212122;DB546868;DQ128105;NM_001039618;NR_028024;NR_028025;NR_028026;NR_028027;XM_005274135;XM_005274136;XM_005274138;XM_006718642;XM_006718643;XM_006718644;XM_006718645 AAD28325;AAH60807;AAH93796;AAH93798;AAZ42189;ABZ92408;BAG36256;EAW75103;NP_001034707;Q9NS37;XP_005274192;XP_005274193;XP_005274195;XP_006718705;XP_006718706;XP_006718707;XP_006718708 Hs.535319;Hs.714910 1677144;1679648;1771254;1858057;2135196;2138165;5094701;5493121 MARC_10277-10278:998924460:1;RH46178;RH79791;RH99164;SGC30362;UniSTS:484378;WI-18180;WIAF-2104 FLJ94018;ZF HCF-binding transcription factor Zhangfei;OTTHUMP00000233207;SHP-interacting leucine zipper protein;SMILE;Zhangfei;host cell factor-binding transcription factor Zhangfei protein-coding HGNC:24905 07340 606444 VALIDATED 1348156 CREG1 cellular repressor of E1A-stimulated genes 1 The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation. [provided by RefSeq, Jul 2008] 1 1 1 q24 140619537 140632329 - 167510250 167523056 - 167541013 167553819 - 1580863;6480464 10815803;12358155;12477932;12934103;12975309;14702039;15340161;15489334;16303743;16344469;16710414;18267954;18472385;19064610;19413895;19536175;19769965;20060003;20951690;21195083;21263217;21872252;21939655;22268729;23040447;23518389;23580165;24018888;9710587 8804 O75629 ABBA01047243;AF084523;AK075375;AK095456;AK130006;AK315497;AL031733;AMYH02002092;AY359071;BC006786;BC008628;BI552369;CH471067;NM_003851 AAC34861;AAH06786;AAH08628;AAQ89430;ABM82057;ABM85236;BAC04550;BAG37881;BAG52125;EAW90794;EAW90795;NP_003842;O75629 Hs.5710 1772507;2154567 D1S3033;SHGC-75873 CREG OTTHUMP00000032606 APPROVED protein-coding ENSG00000143162 HGNC:2351 09897 REVIEWED 1350803 CREG2 cellular repressor of E1A-stimulated genes 2 ENCODES a protein that exhibits FMN binding (inferred); oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN endoplasmic reticulum (inferred); extracellular region (inferred); Golgi apparatus (inferred); INTERACTS WITH atrazine; calcitriol; copper atom 2 2 2 q11.2 96168703 96207615 - 101964816 102003965 - 101348354 101387503 - 6480464 12408961;12477932;14702039;15489334 200407 Q580X0;Q8IUH2 AB046109;ABBA01073912;AC092570;AC099797;AK094970;AMYH02004424;BC032949;BC047514;CH471127;NM_153836 AAH32949;AAH47514;AAX82005;AAX88886;BAC04464;BAC22189;EAX01814;EAX01815;EAX01816;NP_722578;Q8IUH2 Hs.732289 1666429;1787528 SHGC-155589;WI-14835 OTTHUMP00000161280 protein-coding HGNC:14272 16753 VALIDATED 1319745 CRELD1 cysteine-rich with EGF-like domains 1 This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 3 3 3 p25.3 9910976 9922541 + 9975478 9987097 + 9933800 9945413 + 1600967;1580863;6480464;7240710;8554872;8699517 12632326 10922384;11076863;11230166;12137942;12477932;12975309;15231747;15489334;15489336;15857420;16169070;16278904;16344560;16381901;17036335;18076106;19521671;20634891;21080147;21413875;22740159;22987595;24927998;8889548 78987 F8WBY3;H7C2L3;Q96HD1 ABBA01020396;ABBA01020397;AC018809;AF452623;AK314113;AL050275;AMYH02006240;AMYH02006241;AMYH02006242;AY358363;BC008720;BF182978;BM674728;BX358821;CD368927;CH471055;CR457380;DA145918;DN996843;NG_017069;NM_001031717;NM_001077415;NM_015513;XM_006713328;XM_006713329;XM_006713330;XM_006713331;XR_427293;XR_427294 AAH08720;AAM75206;AAQ88729;BAG36806;CAB43376;CAG33661;CAL38223;CAL38687;EAW64034;EAW64035;EAW64036;EAW64037;EAW64038;EAW64039;EAW64040;EAW64041;EAW64042;EAW64043;NP_001026887;NP_001070883;NP_056328;Q96HD1;XP_006713391;XP_006713392;XP_006713393;XP_006713394 Hs.9383 1337857;1341208;1740213;2140187;2140796;2146126;2146128;5017734 CRELD1;D3S1263;D3S1652;D3S3594;D3S3924;D3S4201;SHGC-31307;WI-11041 AVSD2;DKFZp566D213 CIRRIN;OTTHUMP00000158826;OTTHUMP00000207638;OTTHUMP00000207639;OTTHUMP00000207640;cysteine-rich with EGF-like domain protein 1 APPROVED protein-coding ENSG00000163703 HGNC:14630 06206 606217;607170 REVIEWED 1603954 CRELD2 cysteine-rich with EGF-like domains 2 ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN endoplasmic reticulum (inferred); extracellular space (inferred); Golgi apparatus (inferred); INTERACTS WITH atrazine; cisplatin; cobalt dichloride 22 22 22 q13.33 34233563 34242609 + 50312283 50321188 + 49918630 49927540 + 6480464 12137942;12477932;12975309;14702039;15340161;15489334;16238698;16919896;21900206;21963094;21988832;23455924;23956175;24019898;8125298 79174 A6PWM2;Q6UXH1 ABBA01031320;AJ968414;AK126178;AK225930;AK308535;AK308692;AL671710;AL713788;AMYH02038589;AMYH02038590;AY358355;BC002894;BC050675;BI462292;BQ003113;CH471138;DQ470676;DQ470677;DQ470678;DQ470679;DQ470680;NM_001135101;NM_001284317;NM_001284318;NM_024324;NR_104295;XM_005261737;XM_005261738 AAH02894;AAH50675;AAQ88721;ABF06668;ABF06669;ABF06670;ABF06671;ABF06672;CAH56485;CAI91316;EAW73483;EAW73484;NP_001128573;NP_001271246;NP_001271247;NP_077300;Q6UXH1;XP_005261794;XP_005261795 Hs.211282 1771133;2186035;5014051;5021872 D8S2278;RH45712;STS-H99879;sY3084 DKFZp667O055;MGC11256 OTTHUMP00000196972;OTTHUMP00000196973;OTTHUMP00000196974;OTTHUMP00000196975;OTTHUMP00000196976;cysteine-rich with EGF-like domain protein 2 protein-coding ENSG00000184164 HGNC:28150 08455 607171 VALIDATED 735941 CREM cAMP responsive element modulator This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008] 10 10 10 p11.21 35181137 35267234 + 35415769 35501886 + 35126841 35212958 + 1581291;632385;1580863;6480464 12437578;15569686 10086359;10373550;10409662;10660577;10853989;11044457;11046156;11053263;11094064;11466319;11701720;11988318;12198160;12370343;12397208;12477932;12554693;12555239;12626549;12805554;14511788;1461747;14754893;15048659;15146197;15225122;15342556;15456763;15474076;15691874;15841182;16048633;16103121;16143638;16344560;16385451;16595651;16687568;16893891;16894555;16899810;17056544;17211988;17213182;17332439;17340624;17712720;18029348;18202121;18700132;18784739;18922788;18984674;19299714;19434522;19531482;20237496;20378615;20413592;20488182;21097497;21102463;21325296;21507395;21547497;21757709;21767532;21890473;21953500;21976679;21988832;21998402;22019623;22025620;22093963;22184122;22198373;22281835;22379092;22386572;22510021;22531917;23000965;23019580;23124208;23128233;23275563;23929392;24047902;24250222;24297179;24667640;7730336;7809053;7916662;8206879;8404858;8549766;8600390;8600391;8622971;8889548;8994192;9006899;9510963;9737722 1390 C9IYM9;C9J2J0;C9J5A7;C9JK96;C9K092;E9PAR2;E9PB41;F8WB03;F8WDF2;G5E998;H7C4X0;J3KQC0;J3KR46;Q03060;R4GN75 AA453346;AB209533;ABBA01033344;ABBA01033345;AF069065;AF212158;AF213899;AF217318;AF417233;AF417234;AK289379;AK290612;AK291566;AK301906;AL117336;AL157783;AMYH02022613;AMYH02022614;AMYH02022615;AU140010;AV707433;AW439476;AY292864;BC017117;BC041810;BC066342;BC090051;BE439480;BG573680;BG719264;BG720999;BI459432;BI561543;BP370901;BU193626;BU570307;BX379412;CB996061;CD358637;CD639591;CD640465;CD640977;CD686814;CH471072;CK300763;CN367927;D14825;D14826;DA756152;DR760671;DT220562;HG502806;NG_029065;NM_001267562;NM_001267563;NM_001267564;NM_001267565;NM_001267566;NM_001267567;NM_001267568;NM_001267569;NM_001267570;NM_001881;NM_181571;NM_182717;NM_182718;NM_182719;NM_182720;NM_182721;NM_182723;NM_182724;NM_182769;NM_182770;NM_182771;NM_182772;NM_183011;NM_183012;NM_183013;NM_183060;NR_051971;NR_051972;NR_051973;NR_051974;NR_051975;S68134;S68271;U44836;XM_006717378;XM_006717379;XM_006717380;XM_006717381;XM_006717382;XM_006717383;XM_006717384;XM_006717385;XM_006717386;XM_006717387;Y08959;Z15159 AAB03751;AAC19383;AAC60616;AAC60617;AAF66158;AAF68266;AAF68682;AAH17117;AAH66342;AAH90051;AAN32655;AAN32656;AAP44115;BAA03562;BAA03564;BAA03565;BAA03566;BAA03567;BAD92770;BAF82068;BAF83301;BAF84255;BAG63333;CAA78858;EAW85916;EAW85917;EAW85918;EAW85919;EAW85920;NP_001254491;NP_001254492;NP_001254493;NP_001254494;NP_001254495;NP_001254496;NP_001254497;NP_001254498;NP_001254499;NP_001872;NP_853549;NP_874386;NP_874387;NP_874388;NP_874389;NP_874390;NP_874392;NP_874393;NP_877570;NP_877571;NP_877572;NP_877573;NP_898829;NP_898830;NP_898831;NP_898883;Q03060;XP_006717441;XP_006717442;XP_006717443;XP_006717444;XP_006717445;XP_006717446;XP_006717447;XP_006717448;XP_006717449;XP_006717450 Hs.200250 1653718;1661243;1683950;1797436;2113934;2149260;2151054;2168781;5015881;5015961 A005C47;CREM;CREM_2014;D15S1477;G07255;GDB:335751;RH46931;RH79198;RH80748;STS-N30098 CREM-2;ICER;MGC111110;MGC17881;MGC41893;RP11-324I22.3;hCREM-2 CREM 2alpha-b protein;CREM 2beta-a protein;OTTHUMP00000019442;OTTHUMP00000019443;OTTHUMP00000019444;OTTHUMP00000019445;OTTHUMP00000019446;OTTHUMP00000019447;OTTHUMP00000019448;OTTHUMP00000216727;OTTHUMP00000216745;OTTHUMP00000216746;OTTHUMP00000216747;OTTHUMP00000216748;OTTHUMP00000216749;OTTHUMP00000216750;OTTHUMP00000216785;OTTHUMP00000216791;OTTHUMP00000216792;OTTHUMP00000216822;OTTHUMP00000216835;OTTHUMP00000216838;OTTHUMP00000216839;OTTHUMP00000216840;OTTHUMP00000216842;OTTHUMP00000216843;OTTHUMP00000216844;OTTHUMP00000216845;OTTHUMP00000216859;OTTHUMP00000216860;OTTHUMP00000216861;OTTHUMP00000216917;OTTHUMP00000246777;OTTHUMP00000246778;cAMP response element modulator;cAMP-responsive element modulator;hCREM 2alpha-b protein;hCREM 2beta-a protein;inducible cAMP early repressor ICER APPROVED protein-coding ENSG00000095794 HGNC:2352 00444 123812 REVIEWED 1343993 CRG CHARGE association 1391 HGNC:2354 730851 CRHBP corticotropin releasing hormone binding protein Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq, Jul 2008] 5 5 5 q11.2-q13.3 72143194 72159812 + 76248680 76265299 + 76952855 76969474 + 1358530;1580863;5147387;5508840;5508845;5508785;6480464 10600923;14573312;16484629;19631474;9037416 12477932;12784189;13150566;15072543;15345745;15489334;16368564;16482088;16734917;17207965;17599466;17728670;18234674;1846945;18559919;18818748;18838498;18974851;19019335;19086053;19131402;19453261;19527514;19578876;19723618;19874574;20140262;20351714;20368512;20379614;20403506;21039637;21810631;21978546;22286724;22984453;23131710;24075295;2549150;7477348;7774945;8125298;8198617;8307998;8557170;8612563;9253360 1393 D6RHH7;P24387 ABBA01061975;AC027342;AK223457;AK307729;AK311052;AMYH02011610;AW451896;BC018038;CB959505;CH471084;CR541666;NM_001882;S60697;X58022 AAD13916;AAH18038;ADQ32339;BAD97177;CAA41086;CAG46467;EAW95785;EAW95786;NP_001873;P24387 Hs.115617 1681014;1857075;2107007;2144144;2178938;2180529;5017981 CRHBP;CRHBP_7770;D5S2443;RH75968;SHGC-36451;STS-N27552;STS-X58022 CRF-BP;CRFBP;CRH-BP CRF-binding protein;OTTHUMP00000128328;OTTHUMP00000222031;corticotropin releasing hormone-binding protein;corticotropin-releasing factor-binding protein;corticotropin-releasing hormone-binding protein APPROVED protein-coding ENSG00000145708 HGNC:2356 08348 122559 REVIEWED 730946 CRH corticotropin releasing hormone Corticotropin-releasing hormone is secreted by the paraventricular nucleus (PVN) of the hypothalamus in response to stress. Marked reduction in this protein has been observed in association with Alzheimer disease and autosomal recessive hypothalamic corticotropin deficiency has multiple and potentially fatal metabolic consequences including hypoglycemia and hepatitis. In addition to production in the hypothalamus, this protein is also synthesized in peripheral tissues, such as T lymphocytes and is highly expressed in the placenta. In the placenta it is a marker that determines the length of gestation and the timing of parturition and delivery. A rapid increase in circulating levels of the hormone occurs at the onset of parturition, suggesting that, in addition to its metabolic functions, this protein may act as a trigger for parturition. [provided by RefSeq, Apr 2010] 8 8 8 q13 63080325 63082559 - 67088612 67090846 - 66176377 66178611 - 1581300;1581301;704397;704394;704392;704396;704393;1358525;625745;1358326;704423;704425;704424;1580863;5147387;5147490;5490542;5508831;5508835;5490558;5508177;5508166;5508830;5508173;5508845;5490556;5490964;5490980;5491006;5490538;6480464;6907045;8699517;8554872 11564446;11908464;12051390;12361983;12429558;12450317;12559107;12565134;12606499;12644270;12663088;12782395;12942143;14675801;16484629;19409200;20060104;20458328;20860876;21549066;21589865;21684787;21741032;3502064;7477348;8387536;8541482;9037416;9652969 10598591;10822340;11140838;11168450;11182747;11341487;11406119;11511529;11555839;11854458;11932939;11936276;12011471;12036966;12062896;12114295;12154211;12477932;12583606;12679466;12734882;12784189;12853091;12895416;14573312;14576187;14667971;14675201;14698679;14706771;15072543;15077295;15126558;15468147;15489334;15591024;15816833;15883387;16222669;16245303;16303743;16309788;16446741;16523405;16639867;16675846;16734917;16740657;16984517;17068474;17294739;17554801;17568667;17667919;17676473;17693031;17766644;17959886;18182033;18212352;18234674;18240029;18295412;18329818;18384079;18404132;18456686;18559919;18597742;18662259;18801728;18803662;18818748;18838498;18844820;18996102;19019335;19031275;19086053;19127063;19131402;19177170;19190112;19246974;19258402;19379831;19404232;19409922;19450691;19453261;19460861;19527514;19628576;19723618;19874574;19889985;20043013;20047160;20140262;20301348;20368512;20403506;20468064;20472145;20602615;20626567;20727865;20943787;21106714;21261589;21289256;21360527;21525005;21765902;22045495;22073145;22201770;22234467;22360979;22533365;22535604;22608025;22666496;22703673;22734038;22763913;22768175;22869609;23076876;23371389;23380766;23416839;23466050;23477585;23478074;23593457;23644483;2365075;23666959;23849813;23928667;23933692;23987517;24597258;2783917;3259914;3262120;6605851;7489943;7585095;7589495;7867564;8161822;8243338;8386360;9178757;9423932;9620773;9783915 1392 P06850 ABBA01041870;AC090195;AK075431;AMYH02018106;BC002599;BC011031;BT007453;CH471068;NG_016127;NM_000756;V00571;X55962;X67661 AAH02599;AAH11031;AAP36121;BAG52136;CAA23834;EAW86897;NP_000747;P06850 Hs.75294 1645129;1645435;1648736;1847077 RH69917;STS-T54293;STS-V00571;UniSTS:16032 CRF OTTHUMP00000226787;corticoliberin;corticotropin-releasing factor APPROVED protein-coding ENSG00000147571 HGNC:2355 07172 122560 REVIEWED 1603265 CRHR1-IT1 CRHR1 intronic transcript 1 (non-protein coding) FOUND IN extracellular region (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; potassium chromate 17 17 17 q21.31 40363242 40370496 + 43716341 43723595 + 45638975 45646229 + 6480464 12477932;14702039;19915575;21292315;8889548 147081 Q96LR1 ABBA01031189;AC126544;AC225613;AC243807;AK057897;AK090656;BC069230;BU684887;NR_026905;NR_026906 BAB71609;Q96LR1 Hs.128813 1694590;1699890;2143537;5022651;5493755 D11S2921;G43288;RH103553;RH78010;UniSTS:494663 C17orf69;FLJ25168 APPROVED ncrna ENSG00000204650 HGNC:26327 08052 VALIDATED 734061 CRHR1 corticotropin releasing hormone receptor 1 This gene encodes a G-protein coupled receptor that binds neuropeptides of the corticotropin releasing hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encoded protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response and obesity. Alternative splicing results in multiple transcript variants, one of which represents a read-through transcript with the neighboring gene MGC57346. [provided by RefSeq, Jan 2012] 17 17 17 q12-q22 40531648 40560471 + 43697710 43913194 + 45620344 45835828 + 734822;734821;1580863;1358326;1626226;1581302;5147490;1626231;5147472;5147488;5147387;5147473;5130940;5130948;5147485;5491006;5507823;5508315;5508175;6480464;6907045;8554872 11036160;11988580;12576179;12942143;12973355;14724656;16113459;16484629;17550594;19409200;19572944;19663668;20096320;20472052;20860876;21774994 10598591;11416224;11425856;11606483;11861501;12036966;12477932;12504877;12519878;12784189;14657255;14684825;14764822;15100165;15128701;15142984;15192151;15203442;15206947;15252011;15293277;15365580;15450949;15498832;15670850;15784708;15992556;16297195;16412099;16415175;16550213;16721033;16734917;16815632;16906164;16959871;17010515;17015825;17047935;17170072;17258395;17294739;17318384;17330132;17376150;17463062;17532191;17597588;17667919;17913459;17959885;18239030;18240029;18250257;18292205;18325997;18384079;18452185;18496130;18539200;18565889;18577758;18622266;18772229;18801728;18818748;18838498;18981346;18996102;19006179;19019335;19022385;19081678;19086053;19098121;19124613;19131402;19210659;19220485;19247692;19336370;19409922;19432998;19433256;19453261;19527514;19548263;19590686;19596121;19607758;19697526;19723618;19736354;19750552;19801982;19844206;19874574;19878140;19913121;19915575;20010888;20029939;20161813;20233629;20351714;20368512;20374216;20403506;20452482;20468064;20594969;20602615;20628086;20630588;20673868;20699326;20702571;20734064;20843795;20957648;20967262;21123435;21292315;21438878;21487655;21508513;21605337;21752573;21789663;21810631;21843515;21917807;21976504;21976528;21998007;22018085;22194899;22234467;22247544;22249355;22258127;22322595;22341483;22350180;22360979;22378896;22467522;22504418;22504419;22573456;22748421;22948128;22957021;23068076;23131710;23177644;23239826;23274505;23302658;23473364;23529111;23576434;23602568;23644483;23666959;23717480;23726670;23821771;23863939;23933692;23962971;23982282;24012103;24075295;24077033;24290358;24429156;24465390;24623788;7585095;7590738;7692441;7811272;7916328;8243652;8612563;8889548;9178757;9253360;9423932;9661640;9757017 1394 B3TIK8;B4DMR5;G3CIS4;H0YFR5;J3KSM0;J3QKP8;J3QQR1;J9JIC6;P34998 AB065967;AB451466;ABBA01031187;ABBA01031188;ABBA01031189;ABBA01031190;AC003662;AC106030;AC126544;AC217770;AC217771;AC217774;AC225613;AC243621;AC243807;AF039523;AF180301;AF369651;AF369652;AF369653;AF374231;AF488558;AY429529;AY457172;BC037967;BC096836;CH471233;CK299669;EU176016;FJ200483;HM852949;KF456285;L23332;L23333;NG_009902;NM_001145146;NM_001145147;NM_001145148;NM_001256299;NM_004382;U16273;X72304 AAA35718;AAA35719;AAC50073;AAC69993;AAD52688;AAH96836;AAL39014;AAL46631;AAL46632;AAL46633;AAM55213;AAR19768;ABV80233;ACO54880;AEI52959;BAC06179;BAG70280;CAA51052;EAW93556;EAW93557;EAW93558;EAW93559;EAW93560;NP_001138618;NP_001138619;NP_001138620;NP_001243228;NP_004373;P34998 Hs.417628 1665056;1797438;5016500;5117504 CRHR1_2002;GDB:572879;GDB:572888;SHGC-12889 CRF-R;CRF-R-1;CRF-R1;CRF1;CRFR-1;CRFR1;CRH-R-1;CRH-R1;CRH-R1h;CRHR;CRHR1L;CRHR1f CRH receptor 1 variant B;corticotropin releasing hormone receptor variant 1e;corticotropin releasing hormone receptor variant 1g;corticotropin-releasing factor receptor 1;corticotropin-releasing factor type 1 receptor;corticotropin-releasing hormone receptor 1;seven transmembrane helix receptor APPROVED protein-coding ENSG00000120088 HGNC:2357 08830 122561 REVIEWED 733138 CRHR2 corticotropin releasing hormone receptor 2 The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011] 7 7 7 p14.3 30682041 30711309 - 30691559 30739719 - 30651943 30700103 - 734823;1580863;1581302;1358326;734987;5130938;5130953;5131259;5130956;5147490;5131271;5147472;5130951;5131264;5130933;5130948;5147387;5130936;5130940;1642796;5491006;5490987;6480464;8554872 10742107;10742109;11036160;11087261;12942143;15911134;16484629;16855006;17050037;17586086;18408560;19211730;19409200;19429103;19439178;20096320;20860876;21235761;21330446;21774994 10822340;11117536;11226328;11329063;11416224;11857585;12036966;12477932;12690205;12784189;12853948;14592950;14724656;14764822;15146197;15331578;15489334;15652653;15924674;16175604;16326828;16344560;16691126;16721033;16734917;16884458;16972272;17170072;17463062;17532191;17959885;18240029;18325997;18384079;18443956;18577758;18818748;18838498;18996102;19019335;19058138;19086053;19098121;19131402;19351656;19417223;19433256;19437022;19453261;19527514;19813023;19874574;20140262;20164545;20351714;20368512;20452482;20468064;20487506;20594969;20602615;20630588;20673868;20734064;20966082;21338628;21487655;21832049;22234467;22467522;23168683;23177644;23539366;23820308;23821771;23982282;24107226;24123648;8243338;8536644;8612563;9070940;9199241;9423932;9717834 1395 C9JZM9;F2Z2M6;Q13324 AACC02000087;AB065699;ABBA01056813;AC004976;AF011406;AF019381;AF361106;AF361107;AF361108;AK313661;AMYH02015460;AX646443;AY449734;BC096830;CH471073;CN367943;CN367944;CS717260;CS717264;DA808296;DB308619;EU012439;EU012440;EU012441;EU012442;EU012443;FJ200484;NG_029169;NM_001202475;NM_001202481;NM_001202482;NM_001202483;NM_001883;U34587;XM_006715651;Y10151;Y10152;Y10153 AAA91320;AAB94503;AAB94562;AAC71653;AAC71654;AAH96830;AAR18078;ABV59313;ABV59314;ABV59315;ABV59316;ABV59317;ACO54881;BAC05922;BAG36414;CAA71235;CAA71236;CAD69350;CAP40149;CAP40151;EAL24448;EAW93962;EAW93963;EAW93964;EAW93965;NP_001189404;NP_001189410;NP_001189411;NP_001189412;NP_001874;Q13324;XP_006715714 Hs.546246;Hs.729970 1644420;1649573;1653774;1661053;2115029;2120971;2168307;2169733;2179820;2218758;5491950 AFMB050YD1;ATC-P10592;CRHR2;CRHR2__4637;D7S1538;GDB:1317464;GDB:4584951;GDB:4585173;GDB:4585185;GDB:4585461;RH18040 CRF-R-2;CRF-R2;CRF-RB;CRF2;CRFR-2;CRFR2;CRH-R-2;CRH-R2;HM-CRF CRF2 receptor, beta isoform;CRH receptor 2 variant B;OTTHUMP00000158747;OTTHUMP00000202349;OTTHUMP00000202350;corticotrophin releasing hormone receptor 2;corticotropin-releasing factor receptor 2;corticotropin-releasing hormone receptor 2 APPROVED protein-coding ENSG00000106113 HGNC:2358 03614 602034 REVIEWED 1318641 CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like) This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010] 2 2 2 p21 36424733 36619370 + 36583370 36778278 + 36356227 36551135 + 1580863;6480464;8554872 10642437;11084657;12464430;12477932;12805376;12975309;15340161;15489334;18976975;19260139;20379614;21036735;21042576;21067317;21078624;21139048;21220699;21890473;21963094;21987572;23000965;23967269 51232 H7C1Z0;H7C2T6;H7C458;Q9NZV1 AB209139;ABBA01074958;ABBA01074959;ABBA01074960;ABBA01074961;ABBA01074962;ABBA01074963;ABBA01074964;ABBA01074965;AC007378;AC007401;AC009414;AF167706;AF168681;AK026159;AK300817;AMYH02003606;AY358371;BC026227;BC111989;BC113371;BX648755;CH471053;NM_016441;XM_005264357;XM_005264358;XR_426983 AAF34409;AAG37011;AAI11990;AAI13372;AAQ88737;AAX88862;AAY14649;AAY14679;BAD92376;BAG62472;EAX00426;NP_057525;Q9NZV1;XP_005264414;XP_005264415 Hs.699247 1336185;1655270;1728037;1752843;1755109;1757917;1764153;1764155;1850272;1852484;2145550;2147823;2158492;2178378 D2S2230;G63289;RH18547;RH69990;RH70058;RH70280;SGC33875;SHGC-106706;SHGC-142038;SHGC-146851;SHGC-147795;SHGC-147796;STS-AA035725;WI-10812 CRIM-1;MGC138194;S52 OTTHUMP00000125267;cysteine-rich motor neuron 1;cysteine-rich repeat-containing protein S52 APPROVED protein-coding ENSG00000150938 HGNC:2359 08392 606189 REVIEWED 7174911 CRIP1P2 cysteine-rich protein 1 (intestinal) pseudogene 2 3 3 3 p24 25665220 25665626 + 25728326 25728752 + 25686835 25687261 + 9126610 641456 ABBA01025018;AC092798;AC093416;AMYH02006426;NG_005345 pseudo HGNC:44517 INFERRED 7174912 CRIP1P4 cysteine-rich protein 1 (intestinal) pseudogene 4 22 22 22 q11.2 8912609 8913016 + 25108198 25108625 + 24712231 24712658 + 9126610 641457 ABBA01055151;AMYH02038146;AP000358;NG_005346 pseudo HGNC:44519 INFERRED 1348993 CRIP1 cysteine-rich protein 1 (intestinal) Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM, Mar 2008] 14 14 14 q32.33 86004651 86006568 + 105952892 105955128 + 105486920 105488789 + 1580863;6480464 12477932;14702039;15489334;16169070;17486081;18670594;1946385;22202598;22505724;23463506;24816145;7999070;8172605;9126610;9480758;9507743 1396 P50238 ABBA01008881;AC243900;AK092741;AK098290;AL928654;BC002738;BQ128075;BT007181;BU500642;NM_001311;U09770;U58630 AAA64537;AAB61158;AAH02738;AAP35845;ABM83884;ABM87204;NP_001302;P50238 Hs.70327 2144202;5125785 RH65096;STS-U09770 CRHP;CRIP;CRP-1;CRP1;FLJ40971;hCRHP OTTHUMP00000163906;OTTHUMP00000205799;OTTHUMP00000205800;cysteine-rich heart protein;cysteine-rich intestinal protein;cysteine-rich protein 1 APPROVED protein-coding ENSG00000213145 HGNC:2360 00469 123875 VALIDATED 1351980 CRIP2 cysteine-rich protein 2 This gene encodes a putative transcription factor with two LIM zinc-binding domains. The encoded protein may participate in the differentiation of smooth muscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 14 14 14 q32.3 85990016 85997894 + 105939275 105946507 + 105472938 105480170 + 1580863;6480464 10681529;10924333;12477932;12530967;12539241;12839623;14702039;15146197;15489334;16713569;20460109;20667089;21540330;21832049;21900206;22154084;23275563;23824909;8125298;8824798;8843343 1397 H0YFA4;H0YHD8;P52943 ABBA01008878;ABBA01008879;ABBA01008880;ABBA01008881;AK057837;AK091845;AK223251;AK300092;AK311402;AK315757;AL928654;AMYH02029967;AMYH02029968;AW173606;BC000434;BC001931;BC034151;BC034386;BC128101;BE271979;BQ684851;BT019911;CH471061;CN367966;D42123;HY078632;HY161884;NM_001270837;NM_001270841;NM_001312;NR_073081;NR_073082;NR_073083;NR_073084;NR_073085;U36190;XR_429291 AAB03194;AAH00434;AAH01931;AAH34151;AAI28102;AAV38714;ABM82308;ABM85485;BAA07703;BAD96971;BAG38110;BAH13206;EAW81924;NP_001257766;NP_001257770;NP_001303;P52943 Hs.534309 1668921;1690842;2107955;2137327 CRIP2_8273;RH15700;RH44854;SHGC-1100 CRIP;CRP-2;CRP2;ESP1 Cystein-rich intestinal protein;Cysteine-rich intestinal protein;LIM domain protein ESP1/CRP2;OTTHUMP00000028464;OTTHUMP00000218028;OTTHUMP00000243768 APPROVED protein-coding ENSG00000182809 HGNC:2361 03113 601183 REVIEWED 1343897 CRIP3 cysteine-rich protein 3 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN T cell proliferation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 6 6 6 p21.1 44824971 44828289 - 43273211 43277005 - 43305472 43309267 - 6480464;8554872 14574404;15146197;15380775 401262 H0Y7Q9;Q5T045;Q6Q6R5 ABBA01050688;AI042209;AL583834;AMYH02013643;AY555741;AY555742;AY555743;AY555744;CH471081;CN282994;NM_206922;XM_005249103;XM_005249104;XM_005249106;XM_006715096 AAI46405;AAI48847;AAS66887;AAS66888;AAS66889;AAS66890;EAX04177;EAX04178;NP_996805;Q6Q6R5;XP_005249160;XP_005249161;XP_005249163;XP_006715159 Hs.653165 1778724 D6S1790 CRP-3;TLP;TLP-A;bA480N24.2;h6LIMo OTTHUMP00000016433;OTTHUMP00000195154;chromosome 6 LIM domain only protein;thymus LIM protein TLP-A protein-coding ENSG00000146215 HGNC:17751 16755 VALIDATED 1602278 CRIPAK cysteine-rich PAK1 inhibitor CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008] 4 4 4 p16.3 1320611 1324377 + 1385340 1389782 + 1391552 1395994 + 6480464 12477932;14702039;16278681;18187620;22990118 285464 B3KX85;Q8N1N5 AA160784;ABBA01019363;AC118281;AK091762;AK096209;AK126919;AK128809;AMYH02008581;BC131709;CH471131;NM_175918 BAC03741;BAC04725;BAC87616;BAG54397;EAW82583;NP_787114;Q8N1N5 Hs.26410 1688060;2177211;5493753 Cda1ad08;STS-R98032;UniSTS:494655 FLJ34443;MGC150528 OTTHUMP00000149933;cysteine-rich inhibitor of PAK1 APPROVED protein-coding ENSG00000179979 HGNC:26619 08753 610203 VALIDATED 736668 CRIPT cysteine-rich PDZ-binding protein This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014] 2 2 2 p21 46683006 46691562 + 46844325 46852881 + 46617172 46630176 + 6480464;8554872 10570482;11042152;11744724;11937501;12070168;12477932;14702039;16091592;16637659;16713569;17474715;19086053;19322201;20398908;20966902;23000965;24250222;24376456;24389050;24816145;9581762 9419 Q9P021 ABBA01075139;AC018682;AF161488;AK023264;AK291298;AMYH02003738;BC006979;BC006980;BC018653;BI857531;BU603377;CH471053;NG_034144;NM_014171 AAF29103;AAH06980;AAH18653;AAY14836;ADZ15652;BAF83987;EAX00239;NP_054890;Q9P021 Hs.133998;Hs.634293 2158242;2175997;5016793 Bdaa4f11;RH93353;SHGC-35061 HSPC139;SSMDF OTTHUMP00000159029;cysteine-rich interactor of PDZ three;cysteine-rich interactor of PDZ3;postsynaptic protein CRIPT protein-coding HGNC:14312 05208 604594;615789 REVIEWED 1603324 CRISP1 cysteine-rich secretory protein 1 Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 6 6 6 p21.3 51358053 51390301 - 49801970 49844809 - 49834257 49877096 - 6480464;8554872 11566719;11750738;12206465;12477932;14574404;20378925;23987519;8543280;8665901;8838800;9685187 167 P54107 AB451334;AB451479;ABBA01050585;AK292497;AL359458;AMYH02013712;BC028577;BC131707;CH471081;D38451;NM_001131;NM_001205220;NM_170609;S80310;X95237;X95238;XM_006715003 AAB35899;AAI60072;BAA07483;BAF85186;BAG70148;BAG70293;CAA64524;CAA64525;EAX04350;NP_001122;NP_001192149;NP_733758;P54107;XP_006715066 Hs.109620 1686762;1703422;2113836;2133762 AEGL1;RH80559;SHGC-68799;STS-X95237 AEGL1;ARP;CRISP-1;HSCRISP1D;HSCRISP1G AEG-like protein;AEG-related protein;HUMARP;OTTHUMP00000016592;OTTHUMP00000217766;OTTHUMP00000217767;acidic epididymal glycoprotein homolog;acidic epididymal glycoprotein-like 1;cysteine-rich secretory protein-1 delta;protein DE-like APPROVED protein-coding ENSG00000124812 HGNC:304 03118 601193 REVIEWED 1315322 CRISP2 cysteine-rich secretory protein 2 INVOLVED IN single organismal cell-cell adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; arsenite(3-); atrazine 6 6 6 p12.3 51216185 51237390 - 49660071 49681911 - 49692358 49713590 - 1580863;6480464;8554872 12477932;14574404;15342556;15489334;15734896;16344560;16759931;17207965;18550510;20625511;21485539;23027975;23661501;2613236;8125298;8665901 7180 P16562 ABBA01050586;ABBA01050587;AK223337;AK292385;AL121950;AMYH02013712;AY289796;AY292862;AY292863;AY773479;BC022011;BC107707;BG718726;BI562149;BI831679;BM552843;BP369378;BP369727;CH471081;DB082240;DB445739;DB459032;DB524518;M25532;NM_001142407;NM_001142408;NM_001142417;NM_001142435;NM_001261822;NM_003296;X95239;XM_005249349;XM_005249350;XM_005249351;XM_005249352;XM_005249353;XM_005249354;XM_005249356;XM_005249357;XM_005249358;XR_241914 AAA61220;AAH22011;AAI07708;AAP41200;AAP44113;AAP44114;AAV48552;ADQ31643;BAD97057;BAF85074;CAA64526;EAX04340;EAX04341;EAX04342;EAX04343;EAX04344;EAX04345;EAX04346;EAX04347;NP_001135879;NP_001135880;NP_001135889;NP_001135907;NP_001248751;NP_003287;P16562;XP_005249406;XP_005249407;XP_005249408;XP_005249409;XP_005249410;XP_005249411;XP_005249413;XP_005249414;XP_005249415 Hs.2042 1847550;2107957 CRISP2_8686;D6S1839 CRISP-2;CT36;GAPDL5;MGC111136;TPX1;TSP1 OTTHUMP00000016589;cancer/testis antigen 36;glyceraldehyde-3-phosphate dehydrogenase-like 5;testis specific protein 1 (probe H4-1 p3-1);testis-specific protein TPX-1 protein-coding ENSG00000124490 HGNC:12024 01758 187430 VALIDATED 1352578 CRISP3 cysteine-rich secretory protein 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region; extracellular space; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; valproic acid 6 6 6 p12.3 51251171 51268255 - 49695089 49712168 - 49727376 49744455 - 1580863;6480464;8554872 10614782;11729383;12009203;12223513;12433721;12477932;12647793;14574404;15461460;15489334;15867000;15950934;16344560;16388501;16502470;17207965;17634540;17665393;19026612;19282327;20116414;20237496;20625511;20676114;20680031;21240253;21814574;22993349;23196798;23375721;24978310;8125298;8601434;8665901 10321 I3L0A1;J3KPA1;P54108 ABBA01050586;AK223380;AK292786;AK303966;AK313387;AL121950;AL121974;AMYH02013712;BC069580;BC069602;BC101539;CH471081;DB206136;DB210604;NM_001190986;NM_006061;X94323;X95240 AAH69580;AAH69602;AAI01540;ADQ32928;BAD97100;BAF85475;BAG36185;BAG64890;CAA63984;CAA64527;EAX04348;NP_001177915;NP_006052;P54108 Hs.404466 1645299;1852352;2110333 CRISP3_9090;D6S1504;STS-X95240 Aeg2;CRISP-3;CRS3;MGC126588;SGP28;dJ442L6.3 OTTHUMP00000016590;OTTHUMP00000236204;OTTHUMP00000236205;cysteine-rich secretory protein-3;specific granule protein (28 kDa);specific granule protein of 28 kDa protein-coding ENSG00000096006 HGNC:16904 11788 VALIDATED 1605927 CRISPLD1 cysteine-rich secretory protein LCCL domain containing 1 INVOLVED IN face morphogenesis; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; aflatoxin B1 8 8 8 q21.11 71891960 71942045 + 75896708 75946793 + 74984473 75034558 + 6480464;8554872 12477932;12975309;15342556;15489334;19199708;21254358 83690 B7Z8V9;E5RJS4;Q9H336 ABBA01041992;AC100782;AC102801;AF142573;AF329197;AK304034;AK304350;AK314048;AL834301;AMYH02018239;AY358564;BC020514;BP357192;BU790187;CH471068;DC414945;NM_001286777;NM_001286778;NM_031461;XM_006716481 AAG43287;AAH20514;AAK16495;AAQ88927;ADZ15906;BAG36757;BAH14095;BAH14165;CAH56361;EAW87038;NP_001273706;NP_001273707;NP_113649;Q9H336;XP_006716544 Hs.436542 1671484;1689638;1697752;1853504;2174810;2174812 G20223;RH102399;RH36903;RH48530;SHGC-32056;STS-G20223 CRISP-10;CRISP10;DKFZp762F133;LCRISP1 CocoaCrisp;LCCL domain containing cysteine-rich secretory protein 1;LCCL domain-containing cysteine-rich secretory protein 1;OTTHUMP00000226902;OTTHUMP00000226905;OTTHUMP00000226906;cysteine-rich secretory protein 10;cysteine-rich secretory protein LCCL domain-containing 1;trypsin inhibitor Hl protein-coding ENSG00000121005 HGNC:18206 16756 VALIDATED 1605611 CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2 ENCODES a protein that exhibits heparin binding (inferred); INVOLVED IN face morphogenesis; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; transport vesicle; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 16 16 16 q24.1 69155851 69245341 + 84853587 84943116 + 84819981 84909510 + 6480464;8554872 11076863;11230166;11256614;12477932;12975309;14702039;15489334;15489336;16344560;16381901;17616516;18391951;19864597;19913121;19937600;20628086;20662919;20815724;21244519;21254358;21565611;21800413;23799041;24090571 83716 H3BS62;H3BSZ9;H3BTI0;H3BTP0;J3QKP2;Q9H0B8 ABBA01016897;ABBA01016898;ABBA01016899;AC025280;AK027395;AK056839;AK303887;AK308396;AL136861;AMYH02032572;AMYH02032573;AY358790;BC007689;BC018643;BC063012;BQ010162;BQ015624;CH471114;CS000922;DA325436;DB095807;DB260709;NM_031476;XM_005256190 AAH07689;AAH63012;AAQ89150;BAB55081;BAG64823;CAB66795;CAI48002;CAL38015;EAW95468;EAW95469;NP_113664;Q9H0B8;XP_005256247 Hs.513779;Hs.617091 1336936;1721837;1738571;1749187;1750533;1783324;1848928;2114285;2177046;5094394 A005R20;D16S2735;D16S3061;G54652;G59943;SHGC-110872;SHGC-111376;SHGC-111836;SHGC-33289;SHGC-60748 CRISP11;DKFZp434B044;LCRISP2;MGC74865 CRISP-11;LCCL domain containing cysteine-rich secretory protein 2;LCCL domain-containing cysteine-rich secretory protein 2;OTTHUMP00000174996;cysteine-rich secretory protein 11;cysteine-rich secretory protein LCCL domain-containing 2 protein-coding ENSG00000103196 HGNC:25248 13186 612434 VALIDATED 736380 CRK v-crk avian sarcoma virus CT10 oncogene homolog This gene encodes a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of this protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity have been described. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 1340062 1374733 - 1324647 1359561 - 1421353 1456267 - 1580863;6480464;6484113;6907045 10022833;10085298;10092207;10092678;10208419;10329689;10362357;10419455;10464310;10559471;10571044;10595738;10644995;10648385;10720694;10733900;10747099;10748058;10753828;10854253;10899172;10962563;10964504;10970810;11071869;11097834;11146654;11278465;11278916;11279207;11287316;11314030;11316748;11369773;11380621;11418612;11431473;11432831;11466354;11792427;11827972;11839772;11839808;11870224;11911970;11956190;12054111;12138161;12154000;12198159;12370821;12384576;12393469;12446789;12454018;12475948;12477932;12615911;12621583;12628187;12730241;12738793;12807879;12819203;12878163;12970743;1379745;14657239;14702039;15051508;15062102;15263018;15326184;15345747;1545818;15492270;15522217;15592455;15673687;15696159;15700267;15719014;15735735;15831672;15834156;15886098;16158059;16189514;16267043;16273093;16275761;16284401;16289966;1630456;16339550;16344560;16413489;16440329;16628223;16713569;16729043;16849525;1690891;17038317;17081983;17308335;17399949;17428306;17474147;17764157;17825249;17848169;18155796;18165234;18602365;18619508;18660489;18725541;18835194;19001122;19004829;19056867;19351132;19380743;19447967;19522292;19737974;19760510;19807924;20088952;20237902;20729917;21044950;21139048;21319228;21339045;21602891;21664574;2173144;21988832;22012249;22144090;22321011;22383989;22412018;22464172;22569336;22848689;22939629;22974441;23275563;23666597;23824909;24165912;24210993;24250222;24828152;7509446;7509449;7512734;7529876;7531694;7537265;7657647;7797522;7806500;7855886;7926767;8035825;8194526;8378094;8524328;8621483;8621590;8626404;8626543;8647432;8657152;8662907;8662998;8683103;8810325;8875975;8879209;8940134;8943292;8978305;9069267;9092574;9129019;9178909;9233773;9295052;9366405;9393871;9395447;9416834;9461587;9472046;9480911;9497377;9546424;9581808;9614078;9617486;9642287;9674711;9722576;9788432;9819391;9837978;9845531;9891069;9920935;9988765 1398 I3L297;L7RT18;P46108 ABBA01054662;ABBA01054663;ABBA01054664;AC032044;AC100748;AK095449;AK291060;AMYH02032741;AMYH02032742;AU125411;BC001718;BC008506;BC009837;BT007277;CH471108;D10656;EU332838;JX512441;NG_029008;NM_005206;NM_016823;S65701 AAB28213;AAH01718;AAH08506;AAH09837;AAP35941;ABM82073;ABM85253;ABY87527;AGC09588;BAA01505;BAF83749;EAW90621;EAW90622;EAW90623;EAW90624;EAW90625;EAW90626;NP_005197;NP_058431;P46108 Hs.461896 2130096;2142834;2190837;5022200 CRK;L18426;RH17363;WIAF-1540 CRKII;FLJ38130;p38 OTTHUMP00000115366;OTTHUMP00000198330;adapter molecule crk;proto-oncogene c-Crk APPROVED protein-coding ENSG00000167193 HGNC:2362 01267 164762 REVIEWED 1318357 CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 2009] 22 22 22 q11.21 4763059 4799374 + 21271714 21308037 + 20917426 20953749 + 1580863;1642762;6480464;6484113;6907045;7488897;7488899;8554872 14685170;16391854;23686806 10022120;10092207;10194128;10204582;10419455;10477741;10608804;10648385;10657627;10720694;10753828;10753869;10763825;10871282;10907644;10945997;11071635;11097834;11133830;11157475;11167825;11263968;11279207;11313252;11334882;11389015;11399323;11418612;11443118;11463817;11466354;11466412;11489945;11553620;12244174;12393632;12446789;12477932;12504004;12522101;12665586;12671687;12697763;14604282;15062102;15107835;15143164;15167895;15345747;15358160;15461802;15489334;15522217;15556646;15592455;15696170;15717329;16135792;16273093;16284401;16289966;16305332;16503409;16955467;17161365;17764157;18029348;18059481;18165234;18271526;18403635;18654987;18809728;18835194;19004829;19168626;19307307;19322201;19380743;19454690;19615732;19823681;19913121;19966867;20628086;21139048;21319228;21628423;21700719;21890473;21896986;21988832;22169288;22233112;22244889;22253690;22412018;22569336;22586683;22591714;22753141;22974441;23318429;23397142;23751956;23770091;23824909;24055140;24145029;24220336;24250222;24375195;24389200;24563280;24816145;7493940;7545163;7926767;8361759;8524328;8621483;8626543;8662998;8798523;8810278;8943292;8978305;9020138;9053848;9067577;9092574;9129019;9162067;9178909;9195915;9311917;9344843;9374471;9405482;9461587;9498705;9546424;9590251;9614078;9657743;9660791;9710592;9747873;9788432;9820532;9822717;9837784;9845531;9851874;9858471;9872990;9891069;9988765 1399 P46109 AA844269;ABBA01015435;ABBA01015436;ABBA01015437;ABBA01015438;AC002470;AK000311;AK292909;AL049941;AMYH02038082;AMYH02038083;AMYH02038084;AMYH02038085;BC026248;BC033281;BC043500;BC044621;BC053958;CH471176;CR456423;NG_016354;NM_005207;X59656 AAH43500;BAF85598;CAA42199;CAG30309;CAK54415;CAK54714;EAX02932;EAX02933;EAX02934;NP_005198;P46109 Hs.5613 1665430;1683639;1683827;1685756;1858220;1858222;2155420;2173984;5037552;5115524 A004M48;D22S1018E;D22S1020E;D22S1687;D8S2279;GDB:452608;RH27792;RH46189;RH77782;STS-X59656 OTTHUMP00000198538;OTTHUMP00000198539;crk-like protein APPROVED protein-coding ENSG00000099942 HGNC:2363 03596 602007 REVIEWED 1322794 CRLF1 cytokine receptor-like factor 1 This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009] 19 19 19 p12 18606237 18619858 - 18704035 18717660 - 18593225 18606850 - 1600970;1580863;6480464;7240710;8554872;8699517 12509788 10966616;12477932;12975309;15034937;15340161;15489334;17436251;17436252;18029348;19921088;21326283;21370513;22429962;22632162;23818941;24008591;9686600 9244 M0QZL6;O75462 ABBA01051272;ABBA01051273;ABBA01051274;ABBA01051275;ABBA01051276;ABBA01051277;AC003112;AF059293;AF073515;AF178684;AMYH02035736;AY358291;BC044634;CH471106;NG_013370;NM_004750;XM_006722934 AAC28335;AAD39681;AAD54385;AAH44634;AAQ88658;ACE86925;ACE87612;EAW84725;NP_004741;O75462;XP_006722997 Hs.114948 1665235;2121845;2140663;2217192 A002Y03;CRLF1_2978;D19S650E;STS-R40163 CISS;CISS1;CLF;CLF-1;NR6;zcytor5 class I cytokine receptor;cytokine type 1 receptor CRLP-1;cytokine-like factor 1 APPROVED protein-coding ENSG00000006016 HGNC:2364 09177 272430;604237 REVIEWED 1352132 CRLF2 cytokine receptor-like factor 2 This gene encodes a member of the type I cytokine receptor family. The encoded protein is a receptor for thymic stromal lymphopoietin (TSLP). Together with the interleukin 7 receptor (IL7R), the encoded protein and TSLP activate STAT3, STAT5, and JAK2 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Rearrangement of this gene with immunoglobulin heavy chain gene (IGH) on chromosome 14, or with P2Y purinoceptor 8 gene (P2RY8) on the same X or Y chromosomes is associated with B-progenitor acute lymphoblastic leukemia (ALL) and Down syndrome ALL. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] X X;Y X;Y p22.3; Yp11.3 5605262 5605961 - 1314869 1331529 - 1187538 1212636 - 1580863;6480464;6907045 10872831;11237741;11418668;11474172;11891057;14702039;17513717;19641190;19838194;19907440;19965641;20018760;20096461;20109752;20128689;20139093;20236697;20378752;20466416;20483734;20663412;20807819;20847213;21106984;21169835;21457190;21978707;22150304;22168549;22297722;22368272;22382891;22441210;22484421;22851563;22915648;23091296;23145900;23804397;23974192;24018820;24231528;24356513;24787007;8125298 64109 D0E2W4;J3QKD1;Q4V300;Q5G7M1;Q9HC73 AB052639;ABBA01055747;ABBA01055748;ABBA01055749;ABBA01055750;ABBA01055751;ABBA01055752;ABBA01055753;ABBA01055754;AC188046;AF142570;AF338733;AK026800;AK223303;AMYH02038669;AY775789;BX323853;BX908382;CH471074;CS390622;CS403716;GM829053;GN090297;HB441732;HD117897;HH762800;NG_034237;NM_001012288;NM_022148;NR_110830 AAG27923;AAI60055;AAK60618;AAW66851;BAB15557;BAB60717;BAD97023;CAL40435;CAL44819;CAV28560;CAX87028;CAZ78684;CBX74362;CBX78819;EAW98672;NP_001012288;NP_071431;Q9HC73 Hs.287729 5015961 D15S1477 CRL2;CRLF2Y;IL-XR;TSLPR OTTHUMP00000070430;P2RY8/CRLF2 fusion;TSLP receptor;cytokine receptor CRL2 precusor;cytokine receptor-like 2;thymic stromal lymphopoietin protein receptor;thymic stromal lymphopoietin receptor;thymic stromal-derived lymphopoietin receptor APPROVED protein-coding ENSG00000205755 HGNC:14281 02288 300357;400023 REVIEWED 1342810 CRLF3 cytokine receptor-like factor 3 This gene encodes a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protein suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located in the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5. [provided by RefSeq, Aug 2012] 17 17 17 q11.2 26031854 26073912 - 29109702 29151778 - 30782684 30824760 - 6480464 11468690;12477932;12665801;12696059;16331330;16865251;17207965;17632510;18029348;18391951;19291764;19322201;19427400;20546612;20628624;228748;22874834;23455924;24255178;24816145 51379 B4DJU5;J3KST8;J3QLS9;Q8IUI8 AA993312;ABBA01014986;ABBA01014987;ABBA01014988;AC127024;AF046059;AF120151;AK296238;AK313315;AMYH02033279;AMYH02033280;AMYH02033281;AMYH02033282;BC023567;BU902521;CH471147;DQ298450;NG_032911;NM_015986;NR_073118;XM_006721941 AAD02422;AAD31758;AAH23567;ABC55264;ABM83202;ADQ32200;BAG36120;BAG58957;EAW80297;NP_057070;Q8IUI8;XP_006722004 Hs.649372 1647050;1665468;1682880;1795624;1857071;2187373;5037552;5093522 A009Q11;CRLF3_557;D8S2279;G32767;RH79956;SHGC-37343;SHGC-64286;STS-N67026 CREME-9;CREME9;CRLM9;CYTOR4;FRWS;MGC20661;p48.2 cytokine receptor related protein 4;cytokine receptor-like molecule 9;cytokine receptor-related protein 4;type I cytokine receptor like factor;type I cytokine receptor-like factor p48 APPROVED protein-coding ENSG00000176390 HGNC:17177 16757 614853 REVIEWED 731741 CRMP1 collapsin response mediator protein 1 This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 5720438 5793799 - 5822491 5894785 - 5820764 5893083 - 1580863;6480464 10048489;11562390;12134159;12477932;12482610;12650609;14702039;14996858;15383276;15489334;15492864;16169070;16344560;16611631;17118363;18029348;18524846;18782567;19019082;19362386;19903856;20087401;20379614;20506281;21078624;21139048;21747164;21900206;22359051;22363707;22798627;22863883;23720494;24250222;24722188;8973361 1400 B3KT07;B3KV96;E9PD68;Q14194;Q96I11;X5DNI1 ABBA01008265;ABBA01008266;ABBA01008267;AC105915;AK091696;AK094725;AK122754;AK127754;AK309379;AMYH02008657;AMYH02008658;BC000252;BC007613;BC007898;BC009987;BG701124;BT006806;CH471131;D78012;DA064850;DA184461;DB498528;DQ206871;FB582071;FB582073;FB723030;FB723032;KJ534816;KJ534817;NM_001014809;NM_001288661;NM_001288662;NM_001313;U17278;XM_005247940;XM_005247941;XM_005247942;XM_005247943 AAA93201;AAH00252;AAH07613;AAH07898;AAP35452;AAY40959;ABB22046;ABM83454;ABM86666;AHW56456;AHW56457;BAA11190;BAG52919;BAG53708;BAG54567;CAR95648;CAR95649;CAT03387;CAT03388;EAW82403;EAW82404;EAW82405;EAW82406;EAW82407;NP_001014809;NP_001275590;NP_001275591;NP_001304;Q14194;XP_005247997;XP_005247998;XP_005247999;XP_005248000 Hs.135270 1652875;1663580;1663582;1673209;1761177;1768227;2107959;2117286;2142858;2149642;2161321 CRMP1_8275;Cda0ad03;D4S3099;RH47291;SHGC-145187;SHGC-59173;SHGC-59627;SHGC-67720;SHGC-67752;STS-R50561;WI-15614 CRMP-1;DPYSL1;DRP-1;DRP1;ULIP-3 OTTHUMP00000155142;OTTHUMP00000217352;OTTHUMP00000217353;dihydropyrimidinase related protein-1;dihydropyrimidinase-like 1;dihydropyrimidinase-related protein 1;unc-33-like phosphoprotein 3 APPROVED protein-coding ENSG00000072832 HGNC:2365 03913 602462 REVIEWED 1322279 CRLS1 cardiolipin synthase 1 ENCODES a protein that exhibits phosphotransferase activity, for other substituted phosphate groups (inferred); INVOLVED IN cardiolipin biosynthetic process (inferred); glycerophospholipid biosynthetic process (inferred); phosphatidylglycerol acyl-chain remodeling (inferred); PARTICIPATES IN glycerophospholipid metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2-methylcholine; atrazine 20 20 20 p13-p12.3 6058030 6091969 + 5986739 6020699 + 6006089 6040072 + 6480464;6907045;8554872 11780052;12477932;12771218;15342556;16341674;16547353;16678169;16716149;16888643;19048414;19048416;19052923;19089657;19089659;20652826;20877624;21890473;22584571;24703837 54675 Q6NTG3;Q9UJA2 ABBA01053897;AF241784;AK310368;AL035461;AL832419;AMYH02036654;BC069010;BM763234;BP368984;CH471133;DQ386730;KF456796;NM_001127458;NM_019095;XM_005260737;XM_005260738;XM_006723579;XM_006723580 AAG44472;AAH69010;ABD46888;CAH10649;EAX10399;EAX10400;EAX10401;EAX10402;NP_001120930;NP_061968;Q9UJA2;XP_005260794;XP_005260795;XP_006723642;XP_006723643 Hs.743956 1655684;1658076;1663775;1671732;1730365;2161171 D20S1018;D20S121E;D20S595E;RH18242;SGC30258;STS-T96330 C20orf155;CLS;CLS1;GCD10;dJ967N21.6 OTTHUMP00000030219;cardiolipin synthase protein-coding ENSG00000088766 HGNC:16148 12187 608188 VALIDATED 4107742 CRNDE colorectal neoplasia differentially expressed (non-protein coding) ASSOCIATED WITH Melanoma (inferred) 16 16 16 q12.2 39467460 39477829 - 54952775 54963101 - 54918863 54929189 - 8554872 11181995;22393467;23226159;23861464;24184209;24381249;8889548 643911 ABBA01066516;ABBA01066517;AC106738;AC108084;AF275804;AMYH02032069;AMYH02032070;BF692451;BM974647;BU180741;CV575277;DB446128;DB455235;FJ466685;HG508100;HG508101;HG508103;HG508104;HG508105;HG508106;HG508109;NR_034105;NR_034106;NR_110453;NR_110454 Hs.237396 5019130 RH102242 LINC00180;NCRNA00180 ncrna HGNC:37078 615624 VALIDATED 733946 CRNKL1 crooked neck pre-mRNA splicing factor 1 The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013] 20 20 20 p11.2 20089029 20110711 - 20015005 20036690 - 20034361 20056046 - 1580863;6480464;6907045 11342225;11780052;11991638;12084575;12477932;14702039;14759258;15189447;16344560;16396496;17296875;20360068;21139048;21900206;22365833;22586326;22939629;23000965;23084401;24457600;24816145;25027693 51340 Q5JY65;Q69YP1;Q9BZJ0 AA255987;AB016840;ABBA01054080;AF111802;AF255443;AF318302;AF318303;AF318304;AF318305;AK022908;AK023246;AK023728;AK026342;AK292799;AL035454;AL832435;AMYH02036801;BC144222;BI550198;CH471133;DB040881;NM_001278625;NM_001278626;NM_001278627;NM_001278628;NM_016652 AAF65571;AAI56790;AAK01924;AAK01925;AAK01926;AAK01927;AAL39004;BAB14303;BAB14485;BAB14659;BAC53587;BAF85488;CAH10656;EAX10206;EAX10207;EAX10208;EAX10209;EAX10210;EAX10211;EAX10212;NP_001265554;NP_001265555;NP_001265556;NP_001265557;NP_057736;Q9BZJ0 Hs.171342 1341348;1660190;2116686;2145702;2165908;5491300;7184425 AU022874;D13S156;D13S158;D20S578E;RH48424;RH66095;SHGC-36866 CLF;CRN;Clf1;HCRN;MSTP021;SYF3 Crn, crooked neck-like 1;OTTHUMP00000030376;OTTHUMP00000063214;OTTHUMP00000226341;SYF3 pre-mRNA-splicing factor;crooked neck homolog;crooked neck pre-mRNA splicing factor-like 1;crooked neck protein;crooked neck-like 1;crooked neck-like protein 1 APPROVED protein-coding ENSG00000101343 HGNC:15762 09898 610952 REVIEWED 1323410 CRNN cornulin This gene encodes a member of the "fused gene" family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009] 1 1 1 q21 125492515 125497547 - 152381719 152386750 - 152409243 152414274 - 6480464;8554872 11056050;11606197;12477932;14967811;15854041;16344560;17925851;18465210;19056867;19133922;19558548;20412117;22560086;23568457;23894350;24263008;24550385;24657165;2631556;2980212 49860 B4DQ53;Q9UBG3 ABBA01049416;AF077831;AF185276;AK291301;AK298640;AK316568;AL135842;AMYH02001891;BC030807;CH471121;DA420219;NM_016190;XM_006711346 AAD55747;AAF00514;AAH30807;BAF83990;BAG38157;BAG60815;EAW53381;NP_057274;Q9UBG3;XP_006711409 Hs.242057 C1orf10;DRC1;PDRC1;SEP53 53 kDa putative calcium-binding protein;53 kDa squamous epithelial-induced stress protein;58 kDa heat shock protein;OTTHUMP00000014323;squamous epithelial heat shock protein 53;tumor-related protein APPROVED protein-coding ENSG00000143536 HGNC:1230 12720 611312 REVIEWED 1641966 CROCCP1 ciliary rootlet coiled-coil, rootletin pseudogene 1 X X X q26.3 134950553 134956790 + 134566600 134572837 + 135432675 135438912 + 392547 ABBA01050069;ABBA01050070;AL450472;AMYH02040554;NG_009690 CROCCP APPROVED pseudo HGNC:33602 INFERRED 1313346 CROCC ciliary rootlet coiled-coil, rootletin ENCODES a protein that exhibits kinesin binding (ortholog); structural molecule activity (ortholog); INVOLVED IN centriole-centriole cohesion; centrosome organization; protein localization; ASSOCIATED WITH Melanoma (inferred); FOUND IN actin cytoskeleton; centriole; centrosome; INTERACTS WITH 5-aza-2'-deoxycytidine; zinc atom; zinc(0) 1 1 1 p36.13 15570790 15621812 + 17248445 17299474 + 16914084 16972979 + 6480464;8554872 12427867;12477932;12800201;14654843;16203858;16710414;16767081;17971504;18029348;18086858;19056867;21988832;22036096;22863883;23070519;23752268;24816145;9455484 9696 B1AKD8;Q5TZA2 AB007914;ABBA01000257;ABBA01000258;ABBA01000259;ABBA01000260;ABBA01000261;AF527734;AK026910;AL049569;AMYH02000387;BC126911;BC126912;BK005505;BM678006;BX284668;CH471134;DQ139275;KF495875;NM_014675;XM_006711056;XM_006711057;XM_006711058;XM_006711059;XM_006711060 AAI26912;AAI26913;AAP85633;ABA43896;BAA32290;DAA05505;EAW94814;EAW94815;EAW94816;EAW94817;NP_055490;Q5TZA2;XP_006711119;XP_006711120;XP_006711121;XP_006711122;XP_006711123 Hs.309403 1729736;1733124;2165225;5015961;5017433;5022578;5037552;5113124;5113587 D15S1477;D1S1423;D1S1443;D1S170;D8S2279;RH25727;RH64845;SHGC-31788;STS-T76997 KIAA0445;ROLT OTTHUMP00000002222;OTTHUMP00000002223;Tax1-binding protein 2;ciliary rootlet coiled-coil protein;rootletin;rootletin, ciliary rootlet protein protein-coding ENSG00000058453 HGNC:21299 16758 615776 VALIDATED 2303468 CROCCP2 ciliary rootlet coiled-coil, rootletin pseudogene 2 INVOLVED IN centrosome organization (inferred); FOUND IN ciliary rootlet (inferred); INTERACTS WITH (+)-catechin; cobalt dichloride; copper(2+) sulfate 1 1 1 p36.13 12 1529 + 16944751 16957401 - 16618256 16630906 - 6480464 12477932;14702039 84809 Q86T23 AA584096;AC246792;AK054737;AK090414;AK123337;AK128484;AL137798;BC006312;BC010508;BC015342;BC047736;BC051002;HG491723;NR_026752 BAC03395;BAC85584;BAG54684 Hs.631865;Hs.733729 2165225;5015619;5015961;5016478;5021872;5022450;5022578;5024761;5037552;5113124;5113587;5117897 D10S275;D11S3114;D15S1477;D1S1423;D8S2279;GDB:434012;GDB:631813;RH25727;RH36905;RH64845;SHGC-31788;sY3084 CROCCL1;MGC12760;RP5-1182A14.4 APPROVED pseudo HGNC:28170 VALIDATED 1641962 CROCCP3 ciliary rootlet coiled-coil, rootletin pseudogene 3 INVOLVED IN centrosome organization (inferred); FOUND IN ciliary rootlet (inferred); INTERACTS WITH lead(0); lead(2+) 1 1 1 p36.13 15273873 15299141 - 16793931 16819196 - 16467436 16492701 - 6480464 11572484;12477932 114819 Q8IVE0 AB067509;ABBA01004666;ABBA01004667;ABBA01004668;AC244454;AL137802;BC033082;CH471167;NR_023386 BAB67815;EAW51787 Hs.597881 1644073;1678837;2123873;2130999;2180214;5124652 A004P30;AL009794;D1S3581;RH69268;RH69968;SHGC-74276 CROCCL2;KIAA0445;KIAA1922;dJ798A10.2 APPROVED pseudo ENSG00000080947 HGNC:29405 VALIDATED 6482608 CROCCP4 ciliary rootlet coiled-coil, rootletin pseudogene 4 1 1 17076722 17077459 + 16750227 16750964 + 100421113 AL021920;AMYH02000386;NG_027067 pseudo HGNC:43864 INFERRED 6482607 CROCCP5 ciliary rootlet coiled-coil, rootletin pseudogene 5 1 1 1 20082967 20085477 + 21760804 21763314 + 21434311 21436821 + 100421114 ABBA01059814;AL592309;AMYH02000452;NG_027071 pseudo HGNC:43865 INFERRED 732197 CROT carnitine O-octanoyltransferase This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009] 7 7 7 q21.1 81679821 81733990 + 86974951 87029112 + 87345635 87399796 + 1580863;1300048;1599987;6480464;8554872 14618266 10486279;11001805;11790793;12477932;12690205;15174051;15489334;16344560;16756494;18029348;19054068;20178365;20379614;20877624;21619872;22939629;24816145;8619474;8889549;9110174 54677 C9J3D7;Q9UKG9 AA062685;ABBA01045868;ABBA01045869;AC005045;AF052187;AF073770;AF168793;AK127901;AK300114;AK313487;AMYH02016216;BC006015;BC012483;BC019226;BC039004;BC051874;CH236949;CH471091;DA518578;DA865171;NM_001143935;NM_001243745;NM_021151;XM_006716031 AAD41654;AAF03234;AAH39004;AAH51874;BAG61909;EAL24177;EAW76954;NP_001137407;NP_001230674;NP_066974;Q9UKG9;XP_006716094 Hs.125039 1653035;2125339;2128375;2132971;2178634;2217194 A004N35;CROT_3598;D7S1646;D8S2089;RH36091;SHGC-17232 COT OTTHUMP00000161500;OTTHUMP00000205461;OTTHUMP00000205463;peroxisomal carnitine O-octanoyltransferase;peroxisomal carnitine acyltransferase;peroxisomal carnitine octanoyltransferase APPROVED protein-coding ENSG00000005469 HGNC:2366 12081 606090 REVIEWED 1352950 CRPP1 C-reactive protein pseudogene 1 1 1 1 q23.2 132743106 132744130 - 159674740 159675386 - 159704950 159705596 - 21647738;22492993;3034876 171422 ABBA01016618;AF442818;AL445528;AMYH02002015;M16109;NG_001016 pseudo HGNC:2368 INFERRED 1347855 CRS craniosynostosis ASSOCIATED WITH Craniosynostoses (inferred) 7240710 1403 HGNC:2369 123100 736633 CRP C-reactive protein, pentraxin-related The protein encoded by this gene belongs to the pentaxin family. It is involved in several host defense related functions based on its ability to recognize foreign pathogens and damaged cells of the host and to initiate their elimination by interacting with humoral and cellular effector systems in the blood. Consequently, the level of this protein in plasma increases greatly during acute phase response to tissue injury, infection, or other inflammatory stimuli. [provided by RefSeq, Sep 2009] 1 1 1 q23.2 132750525 132752817 - 159682079 159684396 - 159712289 159714589 - 1580259;1580260;1580273;1580863;2313344;5131460;5131283;5131285;5131287;5131291;5131464;5131284;5131277;5131279;5128547;5131456;5131463;5131278;5131292;5131457;5131461;5131289;5131288;5131290;5131293;5131282;5490970;6480464;6482303;6482313;6482305;6482307;6482310;6482316;6903321;6482309;6903282;6482304;6482301;6482312;6482317;6482311;6903278;6484113;6482308;6482315;6482318;6906966;6906967;6904209;6907405;6909145;6906887;6906888;6907431;6907432;6909147;6906884;6909144;6904208;6904211;6907433;6907398;6907400;6907401;6909142;6909146;6906886;6906965;6904212;6907422;6909166;6907402;6907435;6907441;9491760;9491381;9491382;9580226;5129536;9491769;9491774;8547537;9491772;9491780;9585646;9585647;9491838;9585642;9585995;9491788;8695929;9491758;9586008;9491593;9491833;9495911;9495929;9495908;9585643;9491835;9491786;9491757;9491781;9586015;9491388;9491591;9585994;9495927;9491754;9491834;9491770;9491592;9491785;9491771;9491839;9495925;9491784;9491755;9491756;9491782;9495909;9491775;8554872;9491837;9491787;9495921;9491594;9491402;9491832 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1401 C9JRE9;P02741;Q5VVP7 ABBA01016618;AF442818;AF449713;AI609949;AK289443;AK313624;AL445528;AMYH02002015;BC020766;BC070257;BC125135;BG533281;BG618967;CH471121;JA514417;K00518;M11725;M11880;M35163;NG_013007;NM_000567;X56214;X56692 AAA52074;AAA52075;AAA52076;AAB59526;AAH20766;AAH70257;AAI25136;AAL40835;AAL48218;BAF82132;CAA39671;CAA40020;CCD62032;EAW52777;EAW52778;EAW52779;EAW52780;NP_000558;P02741 Hs.709456;Hs.76452 1645077;1655196;1712260;1794416;1795104;1795106;1795626;2148463;2148563;2150224;2151737;2161733 CRP_559;D1S2384;D1S3335;G54038;GDB:190880;PMC311069P8;PMC98081P1;PMC98081P3;RH11065;RH11610;RH18109;WIAF-2117 MGC149895;MGC88244;PTX1 C-reactive protein;OTTHUMP00000033307;c-reactive protein, petaxin related;pentraxin 1 2314798;2314801;2315765;2315816;2316338 GLUCO117_H;GLUCO120_H;GLUCO149_H;GLUCO177_H;GLUCO223_H APPROVED protein-coding ENSG00000132693 HGNC:2367 00422 123260 REVIEWED 1347619 CRSP5 cofactor required for Sp1 transcriptional activation, subunit 5, 85kDa 10688 HGNC:2374 1351263 CRSP4 cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa 10689 HGNC:2373 1606263 CRTAM cytotoxic and regulatory T cell molecule The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009] 11 11 11 q24.1 119868568 119902622 + 122709255 122743347 + 122838547 122872639 + 6480464;8554872 10811014;12477932;15781451;15811952;16300832;17207965;18329370;19695707;20556794;22051697;23530148;23827383;23871486 56253 O95727 AB209830;ABBA01031278;AF001622;AK293470;AK313578;AMYH02025707;AMYH02025708;AP004318;BC070266;BX118379;CA309993;CH471065;CK004240;JA738785;NM_019604 AAC80267;AAH70266;ADQ32073;BAD93067;BAG36349;BAG56963;CCF77045;EAW67532;NP_062550;O95727 Hs.159523 1674981;1848754;2218440 CRTAM_4640;D11S4402;L77857 CD355 OTTHUMP00000231739;class I MHC restricted T cell associated molecule;class-I MHC-restricted T cell associated molecule;class-I MHC-restricted T-cell-associated molecule;cytotoxic and regulatory T-cell molecule APPROVED protein-coding ENSG00000109943 HGNC:24313 16760 612597 VALIDATED 1320245 CRTAP cartilage associated protein The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008] 3 3 3 p22.3 33098553 33132585 + 33155450 33189265 + 33113958 33147773 + 1580863;6480464;7240710;8554872;8699517 10429950;10702664;12477932;14702039;15489334;16344560;17055431;18566967;18996919;19550437;19615732;19727905;19846465;19862557;19895918;20360068;20425614;21890473;21906983;21942715;21963094;21987572;22268729;22505724;22863883;24043621;9217321 10491 C9JP16;O75718 ABBA01024909;ABBA01024910;ABBA01024911;AC112211;AC123900;AJ006470;AK001634;AK027235;AK075401;AK091772;AK092990;AK097650;AK126433;AK298250;AK314719;AL110145;AMYH02006516;BC008745;BC073904;BC094866;BX648233;CH471055;DA335701;NG_008122;NM_006371 AAH08745;ABM84147;ABM87549;BAC03743;BAG37263;BAG50954;BAG52129;BAG52633;BAG53502;BAG54328;BAG60515;CAA07054;EAW64448;EAW64449;EAW64450;NP_006362;O75718 Hs.517888 1645948;1673612;1684252;2115529;2148554;2171101;2176922;5016596 G16533;GDB:631802;RH41985;RH47267;RH68922;RH77950;RH91347;SHGC-33264 CASP;LEPREL3;OI7 OTTHUMP00000161311;OTTHUMP00000208757;cartilage-associated protein;leprecan-like 3 APPROVED protein-coding ENSG00000170275 HGNC:2379 16110 605497;610682 REVIEWED 737274 CRTAC1 cartilage acidic protein 1 This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 10 10 10 q22 93362034 93527517 - 99624757 99790585 - 97865000 98030828 - 6480464;8554872 11139377;12054597;12477932;14702039;15489334;16385451;17013738;17074475;17460260;17602227;19738042;19952464;20171266;20379614;20382749;20694148;20803292;8889548 55118 H0Y6C6;Q5T4F6;Q9NQ79 AA485276;ABBA01021782;ABBA01021783;ABBA01021784;ABBA01021785;ABBA01021786;AJ276171;AJ279016;AJ421515;AK001182;AK057190;AK292084;AL139239;AL358938;AMYH02023613;AMYH02023614;AMYH02023615;AMYH02023616;AMYH02023617;AMYH02023618;AMYH02023619;BC034245;BG820409;BU687942;CH471066;NG_029831;NM_001206528;NM_018058;R60584;XM_005269938 AAH34245;BAA91540;BAF84773;CAB98267;CAB98268;CAB98269;CAC08451;CAD13394;EAW49890;EAW49891;EAW49892;NP_001193457;NP_060528;Q9NQ79;XP_005269995 Hs.500736 1646156;1706040;1706056;1736080;1736130;2109195;5127451 CRTAC1_9876;D10S1353E;D10S1393E;D10S2197;SHGC-32394;SHGC-78664;SHGC-80063 ASPIC1;CEP-68;FLJ10320 68 kDa chondrocyte-expressed protein;ASPIC;OTTHUMP00000020233;OTTHUMP00000020234;OTTHUMP00000020235;acidic secreted protein in cartilage;chondrocyte expressed protein 68 kDa CEP-68;w307 protein APPROVED protein-coding ENSG00000095713 HGNC:14882 10447 606276 REVIEWED 1603540 CRTC2 CREB regulated transcription coactivator 2 This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2010] 1 1 1 q21.3 126991902 127002794 - 153920148 153931132 - 153947672 153958656 - 6480464;8554872 12477932;14506290;14536081;14702039;15324660;15454081;16306228;16809310;16980408;17043309;17353931;17476304;17548807;17805301;17950019;18029348;18187620;18626018;19056867;19164291;19279000;19369332;19372545;19509226;19564345;19850743;20101207;20300828;20501647;20504934;20541704;20675384;20693566;20864035;21145500;21170086;21321111;21326806;21339740;21415389;21757730;21804606;21890473;22045983;22053105;22084251;22145100;22173835;22457328;22457331;22462548;22473959;22504275;23213254;23362262;23443559;23444366;23459592;23584792;23671120;24163370;24255178;24529027;8125298 200186 H0YDQ8;J3KNE6;Q53ET0;Q5T4K5 ABBA01049459;AF289574;AK096382;AK223559;AL358472;AMYH02001912;AY360172;AY726597;BC028886;BC033304;BC053562;BI550818;BM987537;NM_181715;XM_005244946;XM_005244947;XM_005244949;XM_006711199;XM_006711200;XM_006711201;XM_006711202 AAH28886;AAH53562;AAL55758;AAQ98857;BAD97279;BAG53277;NP_859066;Q53ET0;XP_005245003;XP_005245004;XP_005245006;XP_006711262;XP_006711263;XP_006711264;XP_006711265 Hs.406392 1643712;1670311;1678815;1683243;1849705;1856332;2180479 D1S1830E;G19748;RH10553;RH12271;RH16039;RH186;RH64708 RP11-422P24.6;TORC-2;TORC2 CREB-regulated transcription coactivator 2;OTTHUMP00000035255;OTTHUMP00000235093;transducer of CREB protein 2;transducer of regulated cAMP response element-binding protein (CREB) 2;transducer of regulated cAMP response element-binding protein 2 APPROVED protein-coding ENSG00000160741 HGNC:27301 12347 608972 REVIEWED 1320323 CRTC1 CREB regulated transcription coactivator 1 ENCODES a protein that exhibits cAMP response element binding protein binding; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; entrainment of circadian clock by photoperiod (ortholog); positive regulation of CREB transcription factor activity (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH arsane; arsenic atom; crocidolite asbestos 19 19 19 p13.11 18696164 18797938 + 18794425 18893143 + 18683615 18782333 + 6480464;8554872 12477932;12539049;14506290;14536081;14702039;14720503;15057824;15324660;15454081;15489334;15589160;15729701;16344560;16652146;16809310;16817901;16818685;16980408;17334997;17437281;17565599;17979178;18029348;18181164;18206539;18717645;18784253;19164581;19269006;19438452;19521953;19531414;19913121;20010869;20541704;20588178;20625861;20628086;20936779;21074686;21102462;21668476;21706049;21798997;21890473;22236576;22457329;22627671;22749528;22805177;23074285;23362262;23699513;23925723;23975434;24121173;24121790;24250222;24468654;8889548;9734811 23373 M0QX46;M0QXN6;Q6UUV9 AB014516;ABBA01051288;ABBA01051289;ABBA01051290;AC003107;AC004400;AC004476;AC006123;AK024089;AMYH02035741;AMYH02035742;AMYH02035743;AU118537;AY040323;AY186998;AY360171;BC017075;BC023614;BC028050;BM680095;CH471106;DB355148;NM_001098482;NM_015321;XM_005259833;XM_005259834;XM_005259835;XM_005259836;XM_006722710 AAC97072;AAH17075;AAH23614;AAH28050;AAK93832;AAP12463;AAQ98856;ABM84236;ABM85154;BAA31591;BAB14822;EAW84730;EAW84731;EAW84732;EAW84733;NP_001091952;NP_056136;Q6UUV9;XP_005259890;XP_005259891;XP_005259892;XP_005259893;XP_006722773 Hs.371096 1699604;1769344;1783852;2147360;5095020 A001X32;CRTC1;NIB504;RH103403;SHGC-79410 FLJ14027;KIAA0616;MECT1;TORC-1;TORC1;WAMTP1 CREB-regulated transcription coactivator 1;mucoepidermoid carcinoma translocated 1;mucoepidermoid carcinoma translocated protein 1;transducer of CREB protein 1;transducer of regulated cAMP response element-binding protein (CREB) 1;transducer of regulated cAMP response element-binding protein 1 protein-coding ENSG00000105662 HGNC:16062 06339 607536 VALIDATED 1345664 CRTL2 cartilage linking protein 2 1405 HGNC:2381 733182 CRX cone-rod homeobox The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 45130795 45152290 + 48323807 48346587 + 47821842 47843330 + 734827;1600973;1580863;6480464;7240710;8547535;8554872;8699517 16799048;23701314;9537410 10192380;10625658;10708567;10866677;10887186;11468275;11580893;11748859;11910559;11971869;12208271;12215455;12359607;12408971;12477932;15001570;15028672;15143176;15489334;15531334;15689355;15781457;15932940;16189514;17286855;17320181;17347810;18653602;19686387;19753312;19823680;19936203;20301475;20301590;20591486;20801516;21966431;22558175;22790857;22960069;23235340;23565263;23718855;24555912;24722188;8162077;8889548;9390516;9390563;9427255;9792858;9931337 1406 H3BUU7;O43186 ABBA01041061;AC008745;AF024711;AF335246;AF335247;AF335249;AF335593;AF335594;AF335595;AF442496;AL711350;AMYH02036272;AMYH02036273;BC009045;BC016664;BC053672;BT007364;BU736672;CH471126;DQ340179;DQ426867;DQ426868;EF432655;NG_008605;NM_000554 AAB88418;AAH16664;AAH53672;AAP36028;ABC69290;ABD90533;ABM84490;ABM85165;ABO31091;EAW57515;NP_000545;O43186 Hs.617342;Hs.633434;Hs.639114 1337083;1711404;1768506;2107961;5014051;5015619;5037552;5096673;5117897 CRX_8276;D11S3114;D19S902;D8S2278;D8S2279;G27385;G42186;GDB:631813;RH78183 CORD2;CRD;LCA7;OTX3 OTTHUMP00000244137;OTTHUMP00000244138;OTTHUMP00000244139;cone-rod homeobox protein;orthodenticle homeobox 3 APPROVED protein-coding ENSG00000105392 HGNC:2383 03748 120970;602225;613829 REVIEWED 1604314 CRTC3 CREB regulated transcription coactivator 3 This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 15 15 15 q26.1 67477941 67594096 + 91073118 91188577 + 90529886 90645345 + 6480464;8554872 12477932;14506290;14536081;15146197;15324660;15342556;15466468;16344560;16980408;17644518;18029348;18050304;18187620;19471022;19749740;20379614;20936779;21130836;21164481;21536665;21668476;22863883;23128233;23443559;24121173;24255178;24264430;8125298 64784 H0YK33;H0YK64;Q6UUV7;Q8TEF4 ABBA01053058;ABBA01053059;ABBA01053060;ABBA01053061;ABBA01053062;ABBA01053063;ABBA01053064;AC021422;AC103739;AI969212;AK025521;AK074170;AK090443;AK225300;AL360259;AMYH02031042;AMYH02031043;AMYH02031044;AY360173;BC019060;BC074730;BC074731;BP238198;BP365179;BQ945777;CN298837;DB288138;HY057135;HY109267;HY180993;KC877572;KF511220;NM_001042574;NM_022769;XM_005254968 AAH74730;AAH74731;AAQ98858;BAB15160;BAB84996;BAC03424;NP_001036039;NP_073606;Q6UUV7;XP_005255025 Hs.567572 1688718;1740615;1740625;1794354;2113048;2131093;2134896 D15S1153;D15S1159;D15S1476E;PMC311040P16;RH91249;SHGC-32525;SHGC-37377 FLJ21868;TORC-3;TORC3 CREB-regulated transcription coactivator 3;transducer of CREB protein 3;transducer of regulated CREB protein 3;transducer of regulated cAMP response element-binding protein (CREB) 3;transducer of regulated cAMP response element-binding protein 3 APPROVED protein-coding ENSG00000140577 HGNC:26148 13384 608986 REVIEWED 1353919 CRY1 cryptochrome circadian clock 1 This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Loss of the related gene in mouse results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Jan 2014] 12 12 12 q23-q24.1 107050701 107153165 - 107385142 107487635 - 106991364 107093857 - 1580863;6480464;8554872 10217146;10428031;10531061;11533252;11875063;12397359;12477932;12782655;12846824;14507900;14672706;15123698;15147242;15489334;15722957;16189514;16628007;17073458;17376600;17463251;17852344;18195715;18228528;18430226;19181792;19500131;19693801;19934327;20072116;20174623;20222832;20360068;20379614;20560679;20877624;20978934;21628572;21690409;21846818;21906983;21963094;21988832;22081238;22170608;22427812;22470559;22505724;22538398;22669941;22692217;23133559;23242607;23317246;23455922;23546644;23584858;23626715;24085301;24158435;24250222;24449901;24581835;25103245;8600518;8909283;8921389;9383998;9801304 1407 A2I2P0;H0YHT0;Q16526 ABBA01053160;AC007541;AC078929;AK098615;AK125915;AK290552;AMYH02027139;BC017466;BC030519;BJ993835;CH471054;D83702;D84657;DB454192;EF015898;NM_004075 AAH30519;ABM64209;ADZ15916;BAA12068;BAA12710;BAC05354;BAF83241;EAW97795;EAW97796;EAW97797;NP_004066;Q16526 Hs.151573 1678793;1682569;1712384;1795628 CRY1_1267;G54218;RH79737;RH93858 PHLL1 OTTHUMP00000242601;cryptochrome 1 (photolyase-like);cryptochrome-1;photolyase-like cryptochrome 1 APPROVED protein-coding ENSG00000008405 HGNC:2384 09050 601933 REVIEWED 732507 CRY2 cryptochrome circadian clock 2 This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014] 11 11 11 p11.2 46016277 46052408 + 45868669 45904799 + 45847118 45883248 + 1580863;734990;6480464 10217146 10428031;10531061;11889036;12397359;12477932;12627958;12782655;14507900;14672706;14701732;14702039;14750904;15147242;15489334;15751956;15798197;16528748;16628007;17073458;17440215;17463251;17984998;18029348;18228528;18430226;18444243;18990770;19318546;19470168;19693801;19839995;19913121;19934327;20072116;20081858;20174623;20195522;20233903;20334671;20360068;20379614;20419449;20532202;20554694;20571754;20628086;20856823;20978934;21411511;21694704;21747906;21890473;21906983;22505724;22538398;22581228;22589738;23275563;23317246;23323702;23546644;23951166;24085301;24099037;24144296;24335056;24418196;24816145;8909283;9383998;9734811;9753616;9801304 1408 B4DZD6;Q49AN0 AB014558;ABBA01060758;AC068385;AI375851;AK001194;AK291260;AK294904;AK295627;AK302865;AMYH02024693;BC035161;BC041814;BG260501;CH471064;DC306642;DC330290;EF015899;EU219622;KF455380;NM_001127457;NM_021117 AAH35161;AAH41814;ABM64210;ACA14134;ADZ15591;BAA31633;BAF83949;BAG57993;BAG58504;BAG64048;EAW68029;EAW68030;NP_001120929;NP_066940;Q49AN0 Hs.532491 1657344;1852012;2119084;5021992 BCD2335;D10Chm27;D11S1127;RH12593 FLJ10332;HCRY2;KIAA0658;PHLL2 OTTHUMP00000203439;OTTHUMP00000203440;cryptochrome 2 (photolyase-like);cryptochrome-2;growth-inhibiting protein 37 APPROVED protein-coding ENSG00000121671 HGNC:2385 07226 603732 REVIEWED 737518 CRYAB crystallin, alpha B Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 11 11 11 q22.3-q23.1 108932558 108935681 - 111779350 111782473 - 111908626 111911749 - 1580863;2303639;6480464;6907045;7240710;8554872;8699517 17293487 10217480;10508479;10625651;10751411;10930324;10995559;11024455;11076863;11158243;11256614;11341940;11369851;11377425;11577372;11700327;11771659;11926998;12060738;12095619;12140279;12468532;12477932;12501218;12600716;12601044;12601813;12646227;12812987;12837281;12940843;12965253;1407707;14523008;14532291;14610128;14676215;14681890;14743435;14752512;15004872;15117944;15168732;15188402;15236975;15247152;1525182;15284238;15308659;15339919;15382236;15388868;15489334;15489336;15511225;1560006;15609325;15639800;15653686;15817465;15952936;16049941;16053447;16142923;16225851;16274233;16303126;16368544;16381901;16395408;16480679;16483541;16505043;16581320;16751613;16760894;16764341;16817325;16877416;16893188;17010329;17022999;17046756;17056255;17075130;17081987;17105203;17258947;17260942;17387692;17487982;17551579;17568699;17590381;17601350;17655279;17662998;17693254;17723105;17909943;17916631;17940610;17968656;18004741;18005258;18061943;18063749;18095658;18162431;18164413;18230612;18330356;18334940;18343237;18343407;18401461;18543331;18552382;18604737;18639655;18669646;18685083;18692065;18712293;18810322;18854154;18941542;18974385;18977241;18992912;19041879;19056867;19116904;19140694;19205872;19238749;19272359;19282282;19343786;19401464;19451620;19461931;19464326;19498098;19558454;19597569;19616115;19646995;19651604;19680556;19777343;19799611;20067552;20104255;20141356;20197038;20301672;20378664;20381070;20535031;20587334;20668689;20802487;20804537;20841355;20863832;21087083;21139048;21152271;21173272;21224997;21357544;21423662;21423869;21464278;21768101;21866213;21884203;21905118;21915251;21920752;21961594;21980040;21984182;21988832;22090033;22096479;22143763;22158051;22210387;22272318;22417627;22427585;22463677;22537749;22655036;22815750;22877753;2294148;22972503;22982407;22993064;23000965;23005341;23049853;23055712;23074197;23077034;23150610;23159935;23188086;23194663;23225306;23231769;23316005;23340341;23508955;23532854;23582651;23645685;23818860;2387586;23929007;24023305;24023879;24072698;24132917;24275510;24307592;24337577;24589182;24711386;24859470;24880201;2539261;2591958;7498159;8142454;8175657;838078;8431633;8619474;8639509;8999933;9110174;9731540 1410 A0A024R3B9;E9PJL7;E9PNH7;E9PR44;E9PRA8;E9PRS4;E9PS12;H0YCW8;P02511;V9HW27 ABBA01039811;AF007162;AK295498;AK314029;AMYH02025576;AP000907;BC007008;BE076509;BF339748;BI548180;BI759672;BM721803;BT006770;CH471065;DB506606;EF444955;FJ224314;FJ876064;M24906;M28638;NG_009824;NG_033080;NM_001289807;NM_001289808;NM_001885;S45630 AAA52104;AAA60267;AAB23453;AAC19161;AAH07008;AAP35416;ABM83443;ABM86655;ACA05949;ACI46006;ACP18852;BAG36739;BAG58418;CAL37427;CAL37905;EAW67162;EAW67163;EAW67164;EAW67165;EAW67166;EAW67167;NP_001276736;NP_001276737;NP_001876;P02511 Hs.53454;Hs.703770 1737801;1742511;1774359;1791744;1851592;2127623;2144450 CRYA2;D11S2244E;D11S3407;GDB:197835;PMC123035P1;RH17897;SHGC-31520 CMD1II;CRYA2;CTPP2;CTRCT16;HEL-S-101;HSPB5;MFM2 OTTHUMP00000234278;OTTHUMP00000234282;OTTHUMP00000234283;OTTHUMP00000234284;OTTHUMP00000234287;OTTHUMP00000234289;alpha B crystallin;alpha crystallin B chain;alpha(B)-crystallin;alpha-crystallin B chain;epididymis secretory protein Li 101;heat shock protein beta-5;heat-shock 20 kD like-protein;renal carcinoma antigen NY-REN-27;rosenthal fiber component APPROVED protein-coding ENSG00000109846 HGNC:2389 00428 123590;608810;613763;613869;615184 REVIEWED 735272 CRYAA crystallin, alpha A Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jan 2014] 21 21 21 q22.3 29741819 29745592 + 44589141 44592915 + 43169031 43172805 + 1600984;1600993;1600994;1580863;2303613;6480464;6907045;7240710;8554872;8699517 1424724;1707863;18626730 10217480;10830953;10930324;11006246;11024455;11123904;11377425;11672428;11700327;11756414;12060738;12095619;12356833;12369832;12477932;12501218;12601044;14512969;14532291;14752512;15004872;1525182;15284238;15322286;15382236;15388868;15489334;15701626;15817465;16012168;16142923;16303126;16453125;16531622;16584192;16735993;16751613;16760894;17149363;17207965;17258947;17260942;17296897;1730617;17662998;17724170;17724207;17900621;17909943;17937925;17973972;18004741;18056999;18095658;18199971;18302245;18343237;18344542;18401461;18407550;18477484;18521724;18587492;18639655;18692065;18700785;18754677;18779867;18949065;19020808;19071118;19390652;19401464;19463898;19464326;19503744;19558454;19595763;19651604;19862354;20079887;20434541;20465443;20606865;20813964;21061147;21092858;21245144;21300147;21364639;21552534;21612679;21617844;21686328;21866213;22045060;22052021;22065922;22085609;22120592;22140512;22169612;22210387;22216983;22272318;22347398;22347476;22359280;22427585;22655036;22889833;22970163;22982407;23188086;23255486;23288997;23410823;23441109;23508955;23755258;24074001;24275510;24312600;24319337;24453475;25018622;2918909;3610158;3758227;7835394;8175657;817940;8587135;8759518;8910261;894324;8943244;8999933;9346914;9467006;9543632;9618718;9655350 1409 AAB33370;E7EWH7;E9PHE4;P02489 ABBA01004512;ABBA01004513;AF026952;AP001631;AP001748;BC069528;BC113598;BE552434;BM679139;BX118596;CH471079;CR407691;L25781;M35628;M35629;NG_009823;NM_000394;U05569;U66584;X14789;XM_005261093 AAA52105;AAA52106;AAA97523;AAB33370;AAB99912;AAC37570;AAC50900;AAH69528;AAI13599;ADQ32914;ADR82821;BAA95535;CAA32891;CAG28619;EAX09497;EAX09498;NP_000385;P02489;XP_005261150 Hs.184085 2218442 CRYAA_4641 CRYA1;CTRCT9;HSPB4 OTTHUMP00000109430;alpha-crystallin A chain;crystallin, alpha-1;heat shock protein beta-4;human alphaA-crystallin (CRYA1) APPROVED protein-coding ENSG00000160202 HGNC:2388 00427 123580;604219 REVIEWED 736650 CRYBA1 crystallin, beta A1 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 24433393 24441030 + 27573875 27581512 + 29246857 29254494 + 1601004;1601011;1580863;6480464;7240710;8554872;8699517 17102796;9158139 10525151;10585769;11424921;12060738;12477932;14598164;15016766;15111599;15489334;15576560;17046756;17207965;17616172;17653060;18162101;18401461;18567786;18587492;18823128;18949065;19190732;19401464;19548648;20142846;20300566;2055112;21139689;21139983;21686330;21850182;22032798;22665976;22919269;3745196;3770741;8623885;8889548;8961355;8999933;9788845 1411 J3QRT1;P05813 ABBA01015029;AC005412;AMYH02033239;BC069537;BC113693;BU735083;CH471159;M14301;M14302;M14303;M14306;NG_008037;NM_005208;U59058;XM_006721706 AAA52107;AAC50971;AAH69537;AAI13694;ADQ32939;ADR82864;EAW51185;NP_005199;P05813;XP_006721769 Hs.46275 1678121;1741381 GDB:180957;RH79897 CRYB1;CTRCT10 OTTHUMP00000163604;beta-crystallin A3;crystallin, beta A3;eye lens structural protein APPROVED protein-coding ENSG00000108255 HGNC:2394 00429 123610;600881 REVIEWED 1343426 CRYBA2 crystallin, beta A2 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also defined as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008] 2 2 2 q35 213624625 213627840 - 219854912 219858127 - 218990190 218993405 - 634551;1580863;6480464;8699517 7490092 12477932;12907171;15489334;16189514;18391951;19060904;20546612;23496965;23508780;6835373 1412 C9JDH2;P53672 ABBA01023853;AC097468;AF166331;AMYH02005811;BC006285;BF726935;BT007447;CH471063;NG_029384;NM_057093;NM_057094;X86395;X86396 AAD45388;AAH06285;AAP36115;AAX88918;CAA60147;CAA60148;EAW70665;EAW70666;EAW70667;NP_476434;NP_476435;P53672 Hs.415790 1655974;2191015 MARC_12911-12912:999888716:3;RH70935 CTRCT42 OTTHUMP00000164102;OTTHUMP00000206333;OTTHUMP00000206334;beta-A2 crystallin;beta-crystallin A2;eye lens structural protein APPROVED protein-coding ENSG00000163499 HGNC:2395 02905 115900;600836 REVIEWED 733543 CRYBA4 crystallin, beta A4 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008] 22 22 22 q12.1 10821730 10830436 + 27017928 27026636 + 26608015 26630672 + 1580863;2303653;6480464;7240710;8554872;8699517 10726880 10591208;12060738;12360425;12477932;1424806;15461802;15489334;16960806;20057906;20577656;20889312;22792142;7504514;8420967;8889548;8999933;960806 1413 P53673 ABBA01055203;AMYH02038168;BC069404;BC096171;BC096172;BC096173;BC096174;BF726612;BM667295;CH471095;CR456424;NG_009825;NM_001886;S67583;U59057;XM_006724140;Z95115 AAC50970;AAD13994;AAH69404;AAH96171;AAH96172;AAH96173;AAH96174;CAG30310;CAK54416;CAK54715;EAW59731;NP_001877;P53673;XP_006724203 Hs.57690 1686544;1711474;2107963;2132191 CRYBA4_8277;G49194;RH27794;STS-U59057 CTRCT23;MCOPCT4 OTTHUMP00000198864;beta-A4 crystallin;beta-crystallin A4;crystallin, beta polypeptide A4;eye lens structural protein APPROVED protein-coding ENSG00000196431 HGNC:2396 00432 123631;610425 REVIEWED 731502 CRYBB1 crystallin, beta B1 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008] 22 22 22 q12.1 10799161 10817792 - 26995362 27013991 - 26599398 26618027 - 728217;1580863;6480464;7240710;8554872;8699517 12360425 10591208;12060738;12477932;12506076;12941953;14573871;14978307;15461802;15489334;15667225;16110300;16331646;17327390;17448466;17460281;17531125;18162101;18432316;19071118;19190732;19461930;19463898;19548648;20565250;20616077;20889312;21044950;21402992;21447408;21972112;22032798;22267527;23159606;8575764;8626774;9702176 1414 P53674 ABBA01055203;AMYH02038167;AMYH02038168;BC036790;CH471095;CR456425;NG_009826;NM_001887;U35340;X86398;Z95115 AAC50383;AAH36790;CAA60150;CAG30311;CAK54417;CAK54716;EAW59730;NP_001878;P53674 Hs.37135 2133242 RH71225 CATCN3;CTRCT17 OTTHUMP00000198858;beta-B1 crystallin;beta-crystallin B1;eye lens structural protein APPROVED protein-coding ENSG00000100122 HGNC:2397 09021 600929;611544 REVIEWED 1345141 CRYBB2P1 crystallin, beta B2 pseudogene 1 INTERACTS WITH methyl methanesulfonate; valproic acid 22 22 22 q11.2-q12.1 9648170 9661756 + 25844054 25857645 + 25448087 25461678 + 6480464 12477932;2055112;23092984;3436525;8812489 1416 ABBA01055175;AL008721;AMYH02038157;BC037884;BC047380;M18441;NR_033733;NR_033734 Hs.571835 1341696;1655226;1730744;1774990;5014027 D13S1621;D22S1035;D22S1557;D22S533;D22S557 CRYB2B;MGC51252 pseudo ENSG00000100058 HGNC:2399 VALIDATED 734352 CRYBB2 crystallin, beta B2 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008] 22 22 22 q11.23 9419940 9432156 + 25615612 25627836 + 25212828 25231869 + 734832;1601011;1580863;6480464;7240710;8554872;8699517 11424921;9158139 10591208;10634616;10737800;10930324;11700327;12060738;12457849;12477932;12535638;12601044;1521468;15452067;15461802;15489334;16179907;16274233;16319073;16519509;17234267;17653036;17937660;18004741;18162101;18449377;18617901;19190732;19321936;19649175;2055112;20565250;21031021;21245961;21402992;21877723;22312185;22846113;23236454;24120835;24704203;3436525;8175657;8224918;8443605;8812489;8889548;8999933 1415 P43320;R4UMM2 ABBA01055167;AMYH02038154;BC069535;BF847403;BM667912;CH471095;CR456426;KC683809;L10035;NG_009827;NM_000496;U72400;U72404;XM_006724141;Z99916 AAA16864;AAB39700;AAH69535;AGM34047;CAG30312;CAK54418;CAK54717;EAW59688;NP_000487;P43320;XP_006724204 Hs.373074 1730744;1774990;2125733 D22S1035;D22S557;SHGC-7693 CCA2;CRYB2;CRYB2A;CTRCT3;D22S665 OTTHUMP00000198622;beta-B2 crystallin;beta-crystallin B2;beta-crystallin Bp;eye lens structural protein APPROVED protein-coding ENSG00000244752 HGNC:2398 00430 123620;601547;604307 REVIEWED 733594 CRYBB3 crystallin, beta B3 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013] 22 22 22 q11.23 9400151 9407652 + 25595817 25603326 + 25199850 25207359 + 1580863;6480464;7240710;8554872;8699517 10591208;12060738;12477932;15461802;15489334;15914629;16159877;17474147;18162101;2499686;8812489;8889548;8999933;9183670 1417 B1AHR5;P26998 ABBA01055166;AMYH02038154;BC069479;BC102021;BC102022;BC107482;BF726163;BM711382;CH471095;CR456427;NG_009828;NM_004076;U71216;X15144;X15145;X15146;Z99916 AAC50972;AAH69479;AAI02022;AAI02023;AAI07483;CAA33242;CAG30313;CAK54419;CAK54718;EAW59686;EAW59687;NP_004067;P26998 Hs.533022 2109197 CRYBB3_8278 CATCN2;CRYB3;CTRCT22;MGC125772;MGC125773;MGC125774 OTTHUMP00000198623;OTTHUMP00000198624;beta-B3 crystallin;beta-crystallin B3;eye lens structural protein APPROVED protein-coding ENSG00000100053 HGNC:2400 00431 123630;609741 REVIEWED 2301266 CRYBG3 beta-gamma crystallin domain containing 3 ENCODES a protein that exhibits carbohydrate binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH all-trans-retinoic acid; calcitriol; copper(2+) sulfate 3 3 3 q11.2 95930143 96053398 + 97540537 97663830 + 97821934 97944986 + 6480464;8554872 12477932;14702039;20379614;8889548 131544 B4DLE8;C9J5N2;C9J659;F6VHI2;Q68DQ2 ABBA01026939;ABBA01026940;AC110491;AF451988;AK091199;AK098569;AK130907;AK296966;AL831927;AMYH02007284;BC036247;BC050394;BM974654;BX647079;BX648353;CR749313;NM_153605;XM_005247117;XR_241467 AAH36247;AAH50394;AAI48427;AAP97687;BAC03608;BAC05338;BAG59510;CAD38587;CAH18168;NP_705833;Q68DQ2;XP_005247174 Hs.733378 1716645;1747633;2112758;2129871;2132441;2134607 D3S2782E;D3S4446;G11924;G65533;RH121579;SHGC-77136 DKFZp667G2110;DKFZp686L13211;FLJ60082 OTTHUMP00000214306;beta/gamma crystallin domain-containing protein 3 protein-coding ENSG00000080200 HGNC:34427 VALIDATED 1347974 CRYGB crystallin, gamma B Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] 2 2 2 q34 202775571 202779097 - 209007297 209010877 - 208142573 208146153 - 1580863;6480464;8699517;7240710;8554872 10521291;10627816;12011157;12060738;12477932;12507494;12676897;12876325;14517968;15489334;15815621;16368877;1923840;19384013;20621668;20800603;21941057;2258929;23288985;2777080;3011643;3670288;4065573;8889548;9426193 1419 P07316 ABBA01062701;AC016697;AMYH02005658;AMYH02005659;BC074944;BC074945;BC117384;BC117388;BM666147;BY794984;CH471063;M11970;M11971;M19364;NG_028158;NM_005210 AAA52109;AAA52113;AAH74944;AAH74945;AAI17385;AAI17389;AAX93219;ADR82860;EAW70434;NP_005201;P07316 Hs.248102 1741337;1741527;2107965 CRYGB_8280;GDB:180726;GDB:181342 CRYG2;CTRCT39 OTTHUMP00000163868;crystallin, gamma 1-2;gamma-B-crystallin;gamma-crystallin 1-2;gamma-crystallin B APPROVED protein-coding ENSG00000182187 HGNC:2409 00434 123670;615188 REVIEWED 1351411 CRYGA crystallin, gamma A Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] 2 2 2 q34 202793683 202796534 - 209025464 209028366 - 208160740 208163642 - 1580863;6480464 10627816;12011157;12477932;12507494;19384013;19463898;2258929;2991114;3011643;3476929;3670288;8889548;9426193 1418 P11844;Q24JT5 ABBA01062701;AC016697;AMYH02005659;BC114456;BM698524;CH471063;EF426311;M17315;M17316;NG_028157;NM_014617;XM_005246326 AAA52108;AAI14457;AAX93220;ABO14696;EAW70435;NP_055432;P11844;XP_005246383 Hs.122566 1741483;2136591 GDB:181240;RH71373 CRY-g-A;CRYG1;CRYG5 OTTHUMP00000206677;crystallin, gamma 1;gamma crystallin 5;gamma-A-crystallin;gamma-crystallin 5;gamma-crystallin A;gammaA-crystallin APPROVED protein-coding ENSG00000168582 HGNC:2408 00433 123660 REVIEWED 736578 CRYGC crystallin, gamma C Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] 2 2 2 q33.3 202761129 202762822 - 208992861 208994554 - 208128137 208129830 - 1601015;1580863;6480464;7240710;8554872;8699517 10521291 10627816;10914683;11700327;11904153;12011157;12060738;12457849;12477932;12507494;12601044;12876325;15322286;15489334;16303126;17327821;17679936;18004741;18618005;18839057;19204787;1923840;19390652;20621668;21423869;21436266;22052681;2258929;22876111;23441109;23954869;2777080;3011643;3025877;3670288;4033658;4065573;8889548;8943244;8999933;9426193 1420 P07315 ABBA01062701;AC093698;AMYH02005658;BC074954;BC074955;BU737104;CH471063;K03003;K03004;M11972;M11973;M19364;NG_008038;NM_020989;U66582 AAA52110;AAA52111;AAA52114;AAC50899;AAH74954;AAH74955;AAY24042;EAW70433;NP_066269;P07315 Hs.72910 1741485;1744583;2181980;5492713 GDB:181241;GDB:542901;RH69065;UniSTS:482113 CCL;CRYG3;CTRCT2 OTTHUMP00000163869;crystallin, gamma-3;gamma-C-crystallin;gamma-crystallin 2-1;gamma-crystallin 3;gamma-crystallin C APPROVED protein-coding ENSG00000163254 HGNC:2410 00435 123680;604307 REVIEWED 735833 CRYGD crystallin, gamma D Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] 2 2 2 q33.3 202754599 202757581 - 208986331 208989313 - 208121607 208124589 - 1601016;1580863;6480464;7240710;8554872;8699517 12676897 10521291;10627816;10688888;10915766;11371638;12011157;12060738;12107413;12477932;12507494;12601044;12729747;12876325;15041957;15064679;15451671;15489334;15709761;15722442;15815621;16030500;16046626;16274233;16288201;16891314;16981715;17217786;17564961;17724170;17905830;17923670;18041179;18079686;18253099;18334953;18795792;19216553;19275895;19358562;19382745;19390652;19633732;19668596;19758984;19937657;20508808;20553008;20616077;20621668;21031598;21173272;21184609;21197114;21423869;21432932;21527994;21552497;21655238;21827768;21866213;21866214;22219628;22289178;22328156;22394327;2258929;22655036;22669729;23082813;23124202;23651449;23670788;23957864;24103489;24465161;3011643;3025877;3670288;4033658;8733140;8943244;8983941;8999933;9426193;9927684 1421 P07320 ABBA01062701;AC093698;AMYH02005658;BC117338;BC117340;CD674533;CH471063;EL946552;K03005;K03006;NG_008039;NM_006891;U66583 AAA52112;AAB38686;AAI17339;AAI17341;AAY24041;ADR82848;EAW70432;NP_008822;P07320 Hs.546247 1856777;2109199 CRYGD_8282;RH71454 CACA;CCA3;CCP;CRYG4;CTRCT4;PCC;cry-g-D OTTHUMP00000163871;gamma crystallin 4;gamma-D-crystallin;gamma-crystallin 4;gamma-crystallin D APPROVED protein-coding ENSG00000118231 HGNC:2411 00436 115700;123690 REVIEWED 1346335 CRYGEP crystallin, gamma E, pseudogene 2 2 2 q33.3 202741172 202745720 - 208972888 208977441 - 208108164 208112717 - 3670288;4033658;8004095;9847074 200575 ABBA01062699;ABBA01062700;AC093698;AMYH02005658;K03007;K03008;NG_002762;S72943 2159674 RH71346 CCL;CRYG5;CRYGEP1;D2S1472;G2 APPROVED pseudo HGNC:2412 INFERRED 1351190 CRYGGP crystallin, gamma G, pseudogene 2 2 2 p16.3 51842909 51843625 - 52002136 52002852 - 51774998 51775714 - 2258929 1424 ABBA01075223;AC064868;AMYH02003821;NG_001108;X52628 1828258;1840822;1841988;1865832;1865834;1865836;1865838;1865840;1865842;1865844;1865846;1865848;1865850;1865852;1865854;1865856;2198030 ECD15254;ECD21603;ECD22197;REN3579;REN3580;REN3581;REN3582;REN3583;REN3584;REN3585;REN3586;REN3587;REN3588;REN3589;REN3590;REN3591;stSG617101 CRYGGP1 APPROVED pseudo HGNC:2414 INFERRED 1344047 CRYGFP crystallin, gamma F pseudogene 2 2 2 q34 203777668 203780346 + 210009852 210012530 + 209145128 209147806 + 18085818;4033658;9847074 1423 ABBA01062719;AC013409;AMYH02005670;K03009;K03010;NG_001107 2159674 RH71346 CRYG6;CRYGFP1;p1 pseudo HGNC:2413 INFERRED 1320030 CRYGS crystallin, gamma S Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] 3 3 3 q27.3 184692609 184698544 - 186256232 186263049 - 186538443 186544378 - 1580863;6480464;7240710;8699517;8554872 10627816;10837510;11706012;12060738;12093281;12475213;12477932;12529503;1445197;14763903;15489334;16141006;17207965;17905830;19262743;19358562;19558189;20621668;21044950;21244846;21447408;21866213;2258929;22593035;22858140;22995907;23284690;23761725;23942779;24287181;3670288;7733876;7849599;8999933;9426193 1427 P22914;Q9UFA7 ABBA01058389;AC068631;AF161703;AF242197;AF242198;AK314172;AL133079;AMYH02008346;BC069478;BC070241;CH471052;L36869;NG_009829;NM_017541 AAA92870;AAD45901;AAF72490;AAH69478;AAH70241;ADQ32938;BAG36855;CAB61399;EAW78194;EAW78195;EAW78196;NP_060011;P22914 Hs.376209 1645207;2107967;2154390;5015619 CRYGS_8283;D11S3114;RH68614;STS-L36869 CRYG8;CTRCT20 OTTHUMP00000210173;OTTHUMP00000210174;beta-crystallin S;crystallin, gamma 8;gamma-S-crystallin;gamma-crystallin S APPROVED protein-coding HGNC:2417 00439 116100;123730 REVIEWED 1318382 CRYGN crystallin, gamma N The beta and gamma crystallins are evolutionarily related families of proteins that are localized to the refractive structure of the eye lens. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 145684532 145694575 - 151127056 151137256 - 151429970 151440170 - 6480464;8554872 12477932;12690205;15853812;17452356 155051 Q8WXF5 AACC02000108;ABBA01035154;AC005996;AF445455;AMYH02017074;BC043605;BC100878;BC100879;BC100880;BC100881;CH471173;EF491784;NM_144727;XM_005249952;XM_005249953 AAI00879;AAI00880;AAI00881;AAI00882;AAL40968;EAL24514;EAW53992;EAW53993;NP_653328;Q8WXF5;XP_005250009;XP_005250010 Hs.647104 MGC119042;MGC119043;MGC119044;MGC119045 OTTHUMP00000212013;gamma-N-crystallin;gamma-crystallin N;gammaN-crystallin APPROVED protein-coding ENSG00000127377 HGNC:20458 16761 609603 REVIEWED 734218 CRYM crystallin, mu Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014] 16 16 16 p12.2 20584147 20628708 - 21269839 21314404 - 21258518 21303083 - 734836;1580863;6480464 12471561 10493829;11897713;12477932;12590647;1384048;1478656;15489334;16740909;17242435;17264173;17451686;17692531;18029348;19007775;19056867;19110265;19165527;19280551;19353593;20018174;20471030;21044950;21220648;21332720;21418222;21900206;23508717;25057873;8895318;9285773;9328354 1428 I3L2W5;I3L325;I3L3J9;I3L3Y1;I3NI53;Q14894 ABBA01028294;AC241640;AF001550;AF039397;AK290852;AK310424;AMYH02031676;BC008398;BC018061;BG033512;BI860684;BX648477;CH471228;L02950;NG_011610;NM_001014444;NM_001888;U85772 AAB67600;AAB81564;AAB94938;AAC16914;AAH18061;ABM83303;ABM86517;BAF83541;CAI46030;EAW66862;EAW66863;NP_001014444;NP_001879;Q14894 Hs.924 1646935;1658980;1853647;2191551 D16S3201;MARC_26186-26187:1030719768:1;SHGC-60809;SHGC-60878 DFNA40;THBP NADP-regulated thyroid-hormone binding protein;OTTHUMP00000115878;ketimine reductase;ketimine reductase mu-crystallin;mu-crystallin homolog;thiomorpholine-carboxylate dehydrogenase APPROVED protein-coding ENSG00000103316 HGNC:2418 08831 123740 REVIEWED 2303315 CRYM-AS1 CRYM antisense RNA 1 FOUND IN integral component of membrane (inferred) 16 16 16 p12.2 20626473 20644219 + 21312170 21349811 + 21300849 21318591 + 12477932;14702039;15489334;15616553;16344560 400508 A6NIL9 ABBA01028294;AC008740;AC241640;AF001550;AK123760;BC056679;CH471228;DB278209;HG507829;NR_026675 BAG53954;EAW66864 Hs.578949 FLJ41766;NCRNA00169 APPROVED ncrna HGNC:34405 VALIDATED 1323202 CRYZ crystallin, zeta (quinone reductase) Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008] 1 1 1 p31.1 73416409 73444324 - 75171170 75199092 - 74705482 74733408 - 1580863;6480464 11295131;11672428;12477932;12714703;14702039;15146197;15489334;16344560;17192395;17497241;18029348;19056867;20103721;20835842;21139048;21276778;21890473;21906983;21963094;22505724;22843503;22863883;23898208;24816145;7835889;8088825;8125298;8466529;9698072 1429 A6NP24;C9JH92;Q08257 AB209714;ABBA01074425;AC091611;AC135803;AK123469;AK128794;AK223150;AK223201;AK314813;AMYH02001274;AMYH02001275;BC039578;BC070058;BX647883;BX649061;CH471059;CN368109;DA256305;L13278;L31521;NG_029880;NM_001130042;NM_001130043;NM_001134759;NM_001889;XM_005270491 AAA36536;AAH39578;AAH70058;AAK40311;BAD92951;BAD96870;BAD96921;CAI46072;EAX06409;EAX06410;EAX06411;EAX06412;NP_001123514;NP_001123515;NP_001128231;NP_001880;Q08257;XP_005270548 Hs.83114 1667321;1775616;1853182;2218444 CRYZ_4643;D1S3201;RH68052;RH69010 DKFZp779E0834;FLJ41475 NADPH:quinone reductase;OTTHUMP00000011194;OTTHUMP00000011210;OTTHUMP00000011211;OTTHUMP00000011212;OTTHUMP00000011213;quinone oxidoreductase;zeta-crystallin APPROVED protein-coding ENSG00000116791 HGNC:2419 00437 123691 REVIEWED 735568 CRYL1 crystallin, lambda 1 The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008] 13 13 13 q12.11 2039633 2161963 - 20977806 21100012 - 20403667 20525873 - 1580863;6480464;6907045 12477932;12527201;14702039;15057823;15809331;19056867;19322201;21906983;21988832;23251661;23648065;24816145;3170592 51084 Q9Y2S2;V9HWG2 ABBA01068582;ABBA01068583;AF077049;AF087898;AF160216;AK024041;AK301605;AL161715;AL590096;AL606822;AMYH02027638;BC008562;BC071810;BC119660;BC119661;BQ006686;CH471075;EU794604;NM_015974;XM_005266415;XM_005266416;XR_245386 AAD27782;AAF67017;AAH08562;AAH71810;AAI19661;AAI19662;AAP97197;ACJ13658;BAG51254;BAG63091;EAX08259;EAX08260;EAX08261;EAX08262;EAX08263;EAX08264;EAX08265;NP_057058;Q9Y2S2;XP_005266472;XP_005266473 Hs.370703 1671486;1719219;1737331;1737473;1748425;1753395;1779177 D13S1023;D13S931;G23580;G64213;RH123328;SHGC-107200;WI-11739 GDH;HEL30;MGC149525;MGC149526;gul3DH;lambda-CRY L-gulonate 3-dehydrogenase;OTTHUMP00000018097;OTTHUMP00000018098;crystallin, lamda 1;epididymis luminal protein 30;lambda-crystallin homolog APPROVED protein-coding ENSG00000165475 HGNC:18246 16762 609877 REVIEWED 1345953 CRYZP1 crystallin, zeta (quinone reductase) pseudogene 1 7 7 7 q22 97536047 97538121 - 102728148 102730222 - 103087701 103089775 - 12853948;7835889;8088825 1430 ABBA01057995;AC007683;AC108167;AMYH02016449;L31527;NG_001109;NG_030014 pseudo HGNC:2421 INFERRED 7366249 CRYZP2 crystallin, zeta (quinone reductase) pseudogene 2 4 4 98835569 98838575 - 97914418 97917424 - 9847074 100526735 ABBA01063650;AC018884;AMYH02009783;NG_027880 pseudo HGNC:49203 INFERRED 1320993 CRYZL1 crystallin, zeta (quinone reductase)-like 1 This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008] 21 21 21 q21.3 20161267 20213781 - 34961647 35014160 - 33589341 33641854 - 1580863;6480464 10191096;10830953;10986039;12477932;14702039;15489334;16344560;16780588;17497241;21139048;22939629;22990118;24250222;24654937 9946 A6NHJ8;A6NMA8;A6NND8;A8MZ10;C9JAL0;C9JNR9;C9JQD0;C9JZK8;C9K0F7;F8WF64;H7C0X3;H7C2K1;H7C338;H7C3I5;H7C3S0;O95825 ABBA01057351;ABBA01057352;ABBA01057353;ABBA01057354;AF029689;AF086550;AF098798;AK001293;AK057604;AK058071;AK315707;AMYH02037741;AMYH02037742;AMYH02037743;AMYH02037744;AP000304;AP000305;AP000306;AP000307;AP000308;BC013155;BC022827;BC032816;BC033023;BC039589;BI599245;BX647276;BX648547;CA426424;DB037192;NM_145858 AAD20219;AAD22381;AAH13155;AAH22827;AAH33023;ABM81935;ABM85116;BAA91605;BAG38068;BAG51939;NP_665857;O95825 Hs.352671 1674305;1690626;1730648;1810110;1812868;1814476;1815800;1816028;1816030;1818648;1818870;1819712;1819714;1820404;1820778;1823326;1823860;1828666;1830434;1832164;1832516;1832800;1833034;1833036;1834396;1834820;1835478;1836226;1836860;1837452;1838526;1840710;1840784;1841004;1841432;1841690;1842048;1842576;1843094;1843144;1844634;1845844;1846078;1846370;2029714;2029716;2029718;2029720;2029722;2029724;2029726;2029728;2029730;2029732;2029734;2029736;2029738;2029740;2029742;2029744;2029746;2029748;2029750;2029752;2029754;2029756;2029758;2029760;2029762;2029764;2029766;2029768;2029770;2029772;2029774;2029776;2029778;2029780;2029782;2029784;2029786;2029788;2029790;2029792;2029794;2029796;2029798;2029800;2029802;2029804;2029806;2029808;2029810;2029812;2029814;2029816;2029818;2029820;2029822;2029824;2029826;2029828;2029830;2029832;2029834;2029836;2029838;2029840;2029842;2029844;2029846;2029848;2029850;2029852;2029854;2029856;2029858;2029860;2029862;2029864;2029866;2029868;2029870;2029872;2029874;2029876;2029878;2029880;2029882;2029884;2029886;2029888;2029890;2029892;2029894;2029896;2029898;2029900;2029902;2029904;2029906;2029908;2029910;2029912;2029914;2029916;2029918;2029920;2029922;2029924;2029926;2029928;2029930;2029932;2029934;2029936;2029938;2029940;2029942;2029944;2029946;2029948;2029950;2029952;2029954;2029956;2029958;2029960;2029962;2029964;2029966;2029968;2029970;2029972;2029974;2029976;2029978;2029980;2029982;2029984;2029986;2029988;2029990;2029992;2029994;2029996;2029998;2030000;2030002;2030004;2030006;2030008;2030010;2030012;2030014;2030016;2030018;2030020;2030022;2030024;2030026;2030028;2030030;2030032;2030034;2030036;2030038;2030040;2030042;2030044;2030046;2030048;2030050;2030052;2030054;2030056;2030058;2030060;2030062;2030064;2030066;2030068;2030070;2030072;2030074;2030076;2030078;2030080;2030082;2030084;2030086;2030088;2030090;2030092;2030094;2030096;2030098;2030100;2030102;2030104;2030106;2030108;2030110;2101436;2101438;2101440;2101442;2101444;2101446;2101448;2101450;2101452;2101454;2101456;2101458;2101460;2101462;2101464;2101466;2101468;2101470;2101472;2101474;2101476;2101478;2101480;2101482;2101484;2101486;2101488;2101490;2101492;2101494;5015861;5015961;5022450;5037552;7185938 D10S16;D10S275;D15S1477;D21S320;D8S2279;ECD06047;ECD07447;ECD08268;ECD08939;ECD09054;ECD09055;ECD10388;ECD10499;ECD10923;ECD10924;ECD11277;ECD11464;ECD12752;ECD13022;ECD15460;ECD16351;ECD17220;ECD17397;ECD17541;ECD17658;ECD17659;ECD18346;ECD18558;ECD18895;ECD19274;ECD19594;ECD19893;ECD20437;ECD21546;ECD21583;ECD21695;ECD21912;ECD22042;ECD22227;ECD22495;ECD22755;ECD22780;ECD23531;ECD24141;ECD24259;ECD24405;REN85863;REN85864;REN85865;REN85866;REN85867;REN85868;REN85869;REN85870;REN85871;REN85872;REN85873;REN85874;REN85875;REN85876;REN85877;REN85878;REN85879;REN85880;REN85881;REN85882;REN85883;REN85884;REN85885;REN85886;REN85887;REN85888;REN85889;REN85890;REN85891;REN85892;REN85893;REN85894;REN85895;REN85896;REN85897;REN85898;REN85899;REN85900;REN85901;REN85902;REN85903;REN85904;REN85905;REN85906;REN85907;REN85908;REN85909;REN85910;REN85911;REN85912;REN85913;REN85914;REN85915;REN85916;REN85917;REN85918;REN85919;REN85920;REN85921;REN85922;REN85923;REN85924;REN85925;REN85926;REN85927;REN85928;REN85929;REN85930;REN85931;REN85932;REN85933;REN85934;REN85935;REN85936;REN85937;REN85938;REN85939;REN85940;REN85941;REN85942;REN85943;REN85944;REN85945;REN85946;REN85947;REN85948;REN85949;REN85950;REN85951;REN85952;REN85953;REN85954;REN85955;REN85956;REN85957;REN85958;REN85959;REN85960;REN85961;REN85962;REN85963;REN85964;REN85965;REN85966;REN85967;REN85968;REN85969;REN85970;REN85971;REN85972;REN85973;REN85974;REN85975;REN85976;REN85977;REN85978;REN85979;REN85980;REN85981;REN85982;REN85983;REN85984;REN85985;REN85986;REN85987;REN85988;REN85989;REN85990;REN85991;REN85992;REN85993;REN85994;REN85995;REN85996;REN85997;REN85998;REN85999;REN86000;REN86001;REN86002;REN86003;REN86004;REN86005;REN86006;REN86007;REN86008;REN86009;REN86010;REN86011;REN86012;REN86013;REN86014;REN86015;REN86016;REN86017;REN86018;REN86019;REN86020;REN86021;REN86022;REN86023;REN86024;REN86025;REN86026;REN86027;REN86028;REN86029;REN86030;REN86031;REN86032;REN86033;REN86034;REN86035;REN86036;REN86037;REN86038;REN86039;REN86040;REN86041;REN86042;REN86043;REN86044;REN86045;REN86046;REN86047;REN86048;REN86049;REN86050;REN86051;REN86052;REN86053;REN86054;REN86055;REN86056;REN86057;REN86058;REN86059;REN86060;REN86061;RH94054;STS-Z41061;stSG607293;stSG607294;stSG607295;stSG607298;stSG607300;stSG607301;stSG607302;stSG607303;stSG607304;stSG607305;stSG607306;stSG607307;stSG607308;stSG607309;stSG607310;stSG607312;stSG607314;stSG607315;stSG607317;stSG607318;stSG607320;stSG607321;stSG607322;stSG607325;stSG607326;stSG607327;stSG607330;stSG607331;stSG607332;stSG607333 4P11;DKFZp434M035;QOH-1 OTTHUMP00000068718;OTTHUMP00000068719;OTTHUMP00000068787;OTTHUMP00000196007;quinone oxidoreductase homolog 1;quinone oxidoreductase-like protein 1;quinone reductase-like 1;zeta-crystallin homolog APPROVED protein-coding ENSG00000205758 HGNC:2420 06797 603920 REVIEWED 732204 CSAD cysteine sulfinic acid decarboxylase This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 12 12 12 q13.11-q14.3 53200050 53223033 - 53551447 53575422 - 53157663 53181630 - 1580863;1300048;6480464;6907045;7242427 20162368 11752456;11997111;12477932;14702039;15489334;16344560;21900206;22718265;23251661;24250222 51380 B4DL84;C9JTU8;E9PFW9;F8VV11;F8WCW3;H3BQ59;H3BTP4;J3KPG9;Q86V02;Q96JQ3;Q9Y600;Q9Y602 AB044561;ABBA01008317;AC073573;AF116545;AF116546;AF116547;AF116548;AK122681;AK126934;AK128796;AK289659;AK296885;AK315265;AMYH02026515;AV655618;BC018042;BC047466;BC052249;BC098278;BC098342;BC099717;BC105918;BQ028782;CH471054;DA687716;NG_030036;NM_001244705;NM_001244706;NM_015989;XM_005268951;XM_005268954;XM_005268955;XM_006719447;XM_006719448;XR_245935;XR_245936 AAD32543;AAD32544;AAD32545;AAD32546;AAH52249;AAH98278;AAH98342;AAH99717;AAI05919;BAB60953;BAF82348;BAG37682;BAG53664;BAG59446;EAW96666;EAW96667;EAW96668;EAW96669;EAW96670;EAW96671;EAW96672;NP_001231634;NP_001231635;NP_057073;Q9Y600;XP_005269008;XP_005269011;XP_005269012;XP_006719510;XP_006719511 Hs.279815 1647991;1679225;5015404;5015619;5020946;5022200;5022651;5024413;5037552;5109281;5118444 BCD2019;D11S2921;D11S3114;D11S3316;D1S1425;D8S2279;L17705;L17877;L17971;L18426;RH93221 CSD;FLJ44987;FLJ45500;MGC119354;MGC119355;MGC119357;PCAP OTTHUMP00000045733;OTTHUMP00000045734;OTTHUMP00000045735;OTTHUMP00000209623;OTTHUMP00000242628;P-selectin cytoplasmic tail-associated protein;cysteine sulfinic acid decarboxylase-related protein;cysteine-sulfinate decarboxylase;sulfinoalanine decarboxylase APPROVED protein-coding ENSG00000139631 HGNC:18966 16763 REVIEWED 1353338 CSAG1 chondrosarcoma associated gene 1 This gene encodes a member of a family of tumor antigens. The protein is expressed in chondrosarcomas, but may also be expressed in normal tissues such as testis. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] X X X q28 152148038 152154290 + 151903228 151909518 + 152727484 152733735 - 8554872 12039054;12477932;17207965;17342728;21627641;21832049;23257410;23602568 158511 H9KV60;Q6PB30 ABBA01043700;ABBA01043701;AC244102;AF002997;AF195880;AF268418;AF268419;BC059947;BF570999;BM810082;CH471169;NG_013228;NM_001102576;NM_153478;XM_006724810 AAH59947;ADQ32538;EAW99433;EAW99434;EAW99435;EAW99436;NP_001096046;NP_705611;Q6PB30;XP_006724873 Hs.423718 CT24.1 CSAGE;OTTHUMP00000024228;OTTHUMP00000198252;cancer/testis antigen 24.1;cancer/testis antigen CSAGE;cancer/testis antigen family 24, member 1;putative chondrosarcoma-associated gene 1 protein APPROVED protein-coding ENSG00000198930 HGNC:24294 06475 REVIEWED 1606843 CS citrate synthase The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 56318264 56346961 - 56665483 56694175 - 56271699 56300391 - 2306877;2306828;6480464;6907045 938457;9712727 10383393;11377425;12198136;12477932;12531911;12549038;14702039;14743216;14760703;15242332;15489334;15711981;15714131;16274233;16303743;16751257;17298551;18029348;19479947;19615732;20639865;20877624;20972266;21081666;21139048;21890473;22304920;22485150;22797925;22863883;23000965;23139858;23246001;23456168;24583282;24816145;318158;7285903;9543345;9792662;9809442 1431 B4DJV2;F8VPA1;F8VPF9;F8VR34;F8VRI6;F8VRP1;F8VTT8;F8VU34;F8VVY4;F8VWQ5;F8VX07;F8VX68;F8VZK9;F8W0J2;F8W1S4;F8W4S1;F8W642;H0YH82;H0YIC4;O75390 ABBA01008416;ABBA01008417;ABBA01008418;ABBA01008419;AC073896;AF047042;AF053631;AF147410;AK074956;AK095856;AK098177;AK293263;AK296249;AK307625;AL713477;AMYH02026564;BC000105;BC010106;BC072016;BI258893;BI553413;BT007414;BX640838;CB990178;CH471054;CQ782923;DQ403132;NM_004077 AAC25560;AAH00105;AAH10106;AAH72016;AAP36082;AAQ13428;ABD77265;BAC11314;BAG53146;BAG58964;BAH11477;CAE45911;CAF86150;EAW96923;EAW96924;NP_004068;O75390 Hs.743252 1700908;1746887;1788746;1849281;1852103;2121727;2145568;5015619 A002P24;D11S3114;D12S1187E;D6S1936;G64799;RH104081;RH128613;WI-12459 OTTHUMP00000243530;OTTHUMP00000243531;OTTHUMP00000243532;citrate (Si)-synthase;citrate synthase, mitochondrial APPROVED protein-coding ENSG00000062485 HGNC:2422 00349 118950 REVIEWED 1349892 CSAG2 CSAG family, member 2 INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate X X q28 151923686 151928738 + 152708277 152709112 - 1580863;6480464 10095106;11098082;11181995;11205240;12039054;12367802;12445756;12477932;12738743;12925976;15120907;15489334;15580499;15733385;16685391;16888034;17216190;17342728;18395366;20483736;20734393 102723547 AC244102;AF002997;AF080246;AF136715;AF268420;AF268421;AJ844639;BC007228;BC119734;BC119735;XM_006710263;XM_006724857;XM_006726859 AAC29487;AAD37859;AAH07228;AAI19735;AAI19736;CAH59758;XP_006710326;XP_006724920;XP_006726922 Hs.721609;Hs.735281;Hs.741932 CSAG3;CSAG3B;CT24.2;MGC149851;MGC149852;TRAG-3;TRAG3 CSAG family, member 3B;cancer/testis antigen 24.2;cancer/testis antigen family 24, member 2;chondrosarcoma-associated gene 2/3 protein;chondrosarcoma-associated gene 2/3 protein-like;taxol resistance associated gene 3;taxol-resistant-associated gene 3 protein APPROVED protein-coding HGNC:16847 MODEL 1603470 CSAG3 CSAG family, member 3 INVOLVED IN response to drug (inferred); INTERACTS WITH atrazine X X X q28 152121905 152122909 - 151876743 151881833 - 152759218 152760222 + 10095106;11098082;11181995;11205240;12039054;12367802;12445756;12477932;12738743;12925976;15120907;15580499;15733385;16685391;16888034;17216190;18395366;20483736 389903 Q9Y5P2 ABBA01043702;AC244102;AF002997;AF080246;AF136715;AF268420;AF268421;AJ844639;BC007228;BC119734;BC119735;CH471169;NM_001129826;NM_001129828 AAC29487;AAD37859;AAH07228;AAI19735;AAI19736;CAH59758;EAW99427;EAW99428;NP_001123298;NP_001123300;Q9Y5P2 Hs.721609;Hs.735281;Hs.741932 CSAG2;CSAG3A;CT24.2;MGC17065;TRAG-3 CSAG family, member 3A;cancer/testis antigen 24.2;chondrosarcoma-associated gene 2/3 protein;taxol resistance associated gene 3;taxol-resistant-associated gene 3 protein protein-coding HGNC:26237 14214 PROVISIONAL 7174894 CSAG4 CSAG family, member 4 (pseudogene) X X X q28 152141091 152141633 - 151895976 151903136 - 152733827 152740985 + 12477932 100130935 ABBA01043701;ABBA01043702;AC244102;AF002997;BC013171;NR_073432 Hs.169246 pseudo HGNC:20923 VALIDATED 1603657 CSDC2 cold shock domain containing C2, RNA binding ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN mRNA processing (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH raloxifene; tamoxifen; (S)-nicotine (ortholog) 22 22 22 q13.2 25763426 25779097 + 41957014 41972670 + 41561010 41576666 + 6480464 10446180;10591208;10923677;12477932;12767259;12801884;15461802;15489334;16344560;17474147;18029348;8573167;8619474;9110174 27254 H7C4E7;Q9Y534 AB027011;ABBA01055645;AK313407;AL023553;AL834417;AMYH02038443;BC067113;CH471095;CR456457;CR615903;DB168570;NM_014460;U79280 AAB50218;AAH67113;ACE86662;ACE87346;BAA84704;BAG36202;CAD39079;CAG30343;CAK54438;CAK54737;EAW60442;NP_055275;Q9Y534 Hs.310893 1660157;2151334;2165206 A005T18;RH47292;STS-F10883 dJ347H13.2 OTTHUMP00000198828;PIPPIN;RNA-binding protein pippin;cold shock domain-containing protein C2 protein-coding ENSG00000172346 HGNC:30359 15140 VALIDATED 1353910 CSE choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity) ASSOCIATED WITH Choreoathetosis/Spasticity, Episodic (inferred) 7240710 8808284 1433 HGNC:2430 601042 1607084 CSDE1 cold shock domain containing E1, RNA-binding ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN nuclear-transcribed mRNA catabolic process, no-go decay; ASSOCIATED WITH Giant pigmented hairy nevus (inferred); Melanoma (inferred); Neurocutaneous melanosis (inferred); FOUND IN CRD-mediated mRNA stability complex; cytoplasm; Golgi apparatus; INTERACTS WITH 4-phenylbutyric acid; atrazine; hydrogen peroxide 1 1 1 p22 113488779 113529908 - 115259534 115300671 - 114716913 114758050 - 6480464;8554872 10048485;10049359;11051545;11076863;12477932;12667457;14702039;15314026;15342556;15489334;15489336;15928332;16169070;16344560;16356927;16381901;16710414;16751776;17081983;17159903;17474147;17947529;18781797;19322201;19913121;20360068;20379614;2052355;20628086;20936779;20972266;21048031;21139048;21145461;21890473;21906983;21963094;2204029;22053931;22190034;22505724;22586326;22863883;23000965;24189344;24250222;24550385;24583282;24816145;8439573;8619474;8889548;9110174 7812 E9PJK7;E9PKN4;E9PLD4;E9PLT0;E9PNG3;O75534 AB020692;ABBA01068467;AF070542;AF077054;AK022516;AK022528;AK130392;AK290146;AL050150;AL096773;AL110192;AMYH02001784;AMYH02001785;AY049788;BC017662;BC021692;BC032446;BP202324;BU681634;BX479150;BX648561;BX648780;CH471122;CR749378;CR749431;DB076150;KF455018;NM_001007553;NM_001130523;NM_001242891;NM_001242892;NM_001242893;NM_007158 AAC28634;AAD27787;AAH21692;AAH32446;AAL15445;BAA74908;BAB14073;BAB14080;BAF82835;CAB43294;CAB53670;CAH18231;CAH18269;CAL37736;CAL38044;CAL38356;CAL38492;CAL38500;EAW56612;EAW56613;EAW56614;EAW56615;EAW56616;EAW56617;EAW56618;EAW56619;NP_001007554;NP_001123995;NP_001229820;NP_001229821;NP_001229822;NP_009089;O75534 Hs.69855;Hs.731496 2174814;2181601;5109731;5123903 D1S2038E;RH64700;SHGC-32741;WI-11939 D1S155E;DKFZp779B0247;DKFZp779J1455;FLJ26882;RP5-1000E10.3;UNR N-ras upstream gene protein;NRAS-related;OTTHUMP00000013880;OTTHUMP00000013881;OTTHUMP00000013882;OTTHUMP00000013883;OTTHUMP00000234861;OTTHUMP00000234862;OTTHUMP00000234863;cold shock domain-containing protein E1;upstream of NRAS protein-coding ENSG00000009307 HGNC:29905 15949 191510 VALIDATED 9068646 CSE1L-AS1 CSE1L antisense RNA 1 20 q13.13 49040463 49046267 - 102723483 AA398332;ABBA01052731;AI808012;AL121903;AMYH02037201;HG511411;HG511412;NR_110624;NR_110625;XR_425249;XR_430326;XR_433619 Hs.209000 ncrna HGNC:51232 VALIDATED 1316788 CSE1L CSE1 chromosome segregation 1-like (yeast) Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 20 20 20 q13 44367453 44418132 + 47662783 47713497 + 49046246 49096960 + 6480464;6484113;8554872 10331944;10523667;11295109;11310559;11703094;11724300;11780052;11927559;12061792;12477932;12510150;12972425;14718574;15161933;15324660;15489334;16169070;16196087;16786158;17110338;17314511;17719542;18051367;18377724;18425415;18439902;18457437;18781797;19056867;19224336;19471022;19615732;19738201;19946888;20016921;20150437;20473970;20734115;20936779;21081666;21139048;21252943;21290345;21319273;21343306;21693764;21890473;21906983;21963094;21983832;21987572;22053931;22110766;22268729;22476051;22586326;22623428;22653741;22678362;22711543;22863883;22939629;22952058;22967991;23000965;23125841;23181366;23189846;23464991;23621178;23703321;23806821;23862649;23956138;24250222;24337577;24457600;24489884;24654937;24816145;25027693;7479798;8125298;8639641;8943292;8963895;9323134;9428644;9786944 1434 B4DUC5;P55060 ABBA01052731;ABBA01052732;AF053640;AF053641;AF053642;AF053645;AF053651;AI018123;AI973168;AK098618;AK225610;AK297270;AK297314;AK298477;AK299549;AK300589;AK307965;AK312306;AL121903;AL133174;AMYH02037201;AMYH02037202;BC108309;BC109313;BC109314;BG392946;CH471077;DC402014;EF426455;NM_001256135;NM_001316;NR_045796;U33286 AAC35007;AAC35008;AAC35009;AAC35297;AAC50367;AAI08310;AAI09314;AAI09315;ABO15009;ACE87791;ACT64453;BAG35231;BAG59743;BAG59779;BAG60688;BAG61494;BAG62287;EAW75676;EAW75677;NP_001243064;NP_001307;P55060 Hs.90073 1338093;1645512;1655262;1664148;1725811;1777779;2121363;2150430;2190759 A003P30;D20S1125;D20S575E;D20S887;G61992;RH18314;STS-H67122;YWHAB;Z94673 CAS;CSE1;MGC117283;MGC130036;MGC130037;XPO2;exp2 OTTHUMP00000043373;cellular apoptosis susceptibility protein;chromosome segregation 1-like protein;exportin-2;importin-alpha re-exporter APPROVED protein-coding ENSG00000124207 HGNC:2431 03217 601342 REVIEWED 731066 CSF1 colony stimulating factor 1 (macrophage) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 1 p13.3 108699836 108719046 + 110453233 110473616 + 109910611 109930994 + 628338;734837;2293710;2293638;2293640;2293641;2293639;5131509;6480464;6907045;7257567;7257578;7257586;7257580;7257589;7257569;7257579;7257565;7257593;7257570;1641957;7257591;7257564;7257566;7257581;7241234;7257574;7257575;7257572;7257590;8554872 11340249;11477167;11981428;12038073;12110011;12379742;15205327;15383612;15728459;16166801;16618760;16951369;17659436;18172291;18510570;18981160;19196448;19242505;20831658;21885670;22052465;22441309;22700848;23143303;23628901;8573750;9158105;9637704 10652277;10666185;10857771;11248655;11297560;11369790;11387343;11739737;11792569;11843897;12032835;12372416;12393446;12411027;12456016;12477932;12501178;12548211;12684699;12749918;12790839;12865350;12890905;12894871;12928417;12929928;1334406;1455231;14605992;14634568;14654075;15001836;15116247;15256272;15261158;15304486;1531650;15358207;1540160;15489334;15494511;15576295;15624698;15640942;1571567;15728521;15780937;15820145;15866728;15919699;15944252;16204228;16267391;16318581;16320327;16344560;16407111;16673212;16844084;16859503;17108334;17192722;17243911;17244792;1733926;17353186;17355643;17368603;1739124;17420255;17431224;17443671;17516513;17532041;17589498;17907802;17916748;17918257;1791839;17922812;17967422;18219369;18322228;18435789;18467591;18566389;18606301;18619508;18632616;18668547;18676750;18708368;18718581;18724005;18751872;18852899;18996518;19004987;19008293;19017797;19432671;19443701;19453261;19561083;19641137;19711348;19913121;19926892;19950360;20237496;20436471;20452482;20455868;20485444;20504948;20628086;20628624;20673868;20839008;20839921;20869948;20925194;21239715;2145044;21481374;21623375;21717212;21791433;21854753;21895511;21938481;21945122;22028782;22082370;22186992;22365076;22678116;23061794;23233531;23251661;23260168;23285029;23333304;23471483;23520016;23684409;23688065;23834954;23870818;23924854;24016870;2408759;24157873;24178511;2460758;24748497;2660794;2996129;3039346;3259875;3264877;3264878;3493529;3498652;3500041;7696959;8086034;8262907;8336080;8355686;8422357;8804363;8981357;9131001;9147389;9632647 1435 E9PJA2;E9PKP4;E9PQ08;H7BY18;P09603 AB208952;ABBA01068382;ABBA01068383;AI758702;AK291660;AK300401;AK311440;AL450468;AMYH02001717;BC021117;CH471122;CS166282;CS166284;CS166286;DA414355;DB287787;HI519552;HI638410;HI638412;HI638414;JA312075;JA312077;JA312079;JF803735;M11038;M11295;M11296;M27087;M37435;M64592;M76453;NG_030008;NM_000757;NM_172210;NM_172211;NM_172212;U22386;X05825;X06106 AAA52117;AAA52120;AAA59572;AAA59573;AAA64849;AAB59527;AAH21117;AEF12310;BAD92189;BAF84349;BAG62132;CAA29265;CAA29479;CAJ32234;CAJ32235;CAJ32236;CBX54357;CBX55878;CBX55879;CBX55880;CCA65433;CCA65434;CCA65435;EAW56416;EAW56417;EAW56418;EAW56419;EAW56420;EAW56421;NP_000748;NP_757349;NP_757350;NP_757351;P09603 Hs.173894 1644369;1768096;5117849;5117851 D1S3360;GDB:624800;GDB:624803;SHGC-75281 CSF-1;MCSF;MGC31930 OTTHUMP00000013362;OTTHUMP00000013363;OTTHUMP00000013364;OTTHUMP00000013365;lanimostim;macrophage colony stimulating factor;macrophage colony-stimulating factor 1 APPROVED protein-coding ENSG00000184371 HGNC:2432 00388 120420 REVIEWED 1354508 CSF2 colony stimulating factor 2 (granulocyte-macrophage) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 127539561 127541935 + 131409485 131411863 + 132073792 132076170 + 1580863;5131507;5131475;5131467;5131473;4142837;5131470;5131471;5131508;2317286;5131476;4143440;2317284;5131472;5686795;5686773;6480464;6484113;6907045 18557728;18848347;19213775;19487471;19633061;20088864;20405019;20427198;21291297;21326109;21442011;21474645;21478218;21515263;21537082 10477722;10572088;10666185;10734053;11289721;11522597;11763346;11847009;11855781;11880043;11883735;11956032;11963838;12022701;12031914;12050184;12144536;12162871;12171249;12356579;12356582;12397015;12421569;12444058;12477932;12488507;12496443;12538575;12548211;12562384;12565831;12568301;12615367;12629028;12637324;12646185;12663443;12695562;12743567;12744771;12759409;12855588;12926133;12928384;12935848;12954601;13679820;14503968;14512323;14530365;14564341;14567558;14628073;14630612;14662891;14726527;14730225;15009203;15078892;15123671;15129224;15136573;15201279;15218949;15220135;15245433;15269821;15308671;15340054;15358207;15372022;15388258;15388264;15475489;15479432;15481145;15489334;15528381;15541716;15576295;15621725;1569568;15927668;16027123;16167889;16211258;16305336;16380083;16487109;16491014;16716376;1675789;16783532;16896315;16912178;16949316;1702217;17142110;17205286;17273755;17311927;17342342;17355643;17362254;1737041;17512774;17533050;17619839;17681858;17703412;17713553;17894541;17914409;17934321;17938902;18027871;18089573;18219369;18254319;18353856;1837174;18434187;18439101;18441098;18523302;18676680;18692472;18701168;18755511;18804273;18830265;18926300;18928604;18945465;18971287;18974369;18974840;19028820;19032770;19050289;19131452;19131662;19141860;19158269;19164476;19170196;1918997;19222422;19225544;19230854;19247692;19258923;19263529;19282464;19324950;19379606;19453261;19479237;19494510;19559392;19560459;19578876;19625176;19692168;19699526;19730683;19773451;19807655;19913121;20015396;20056792;20078425;20233331;20382843;20452482;20483917;20485444;20503287;20527084;20536507;20603037;20628086;20673868;20802406;20811626;20829438;20956574;20959405;21052690;21071541;21123547;21262803;21324206;21486701;21506110;21705618;21724805;21873076;21931646;22031867;22200506;22430742;22446963;22655069;22698406;22698407;22837488;22911897;23069312;23128233;23333304;23383108;23520016;23548906;23585475;23600834;23696637;23898208;23920355;24040001;24056818;24078930;24100343;24211252;24244449;24275678;24390342;24446489;24463275;24692225;24823638;25080789;2645577;2999978;3083507;3486413;3876930;3898082;3923623;3925454;7642615;7695626;7727786;7818827;7957082;8018916;8278375;8516290;8910448;9162089;9211889;9722506 1437 P04141;Q647J8 ABBA01068814;AC004511;AC034228;AF373868;AF510855;AMYH02012209;AY720441;BC108724;BC113924;BC113999;CH471062;CS401638;HC025839;HI574012;M10663;M11220;M11734;M13207;NG_033024;NM_000758;X03021 AAA52121;AAA52122;AAA52578;AAA98768;AAC08707;AAI08725;AAI13925;AAI14000;AAK51563;AAM44054;AAU21240;CAA26822;CAL40350;CBH19850;CBX47495;EAW62353;NP_000749;P04141 Hs.1349 1657793;1770644;1791326;1799850;1800788;1801062;1801426;1847281;1995686;1995688;1995690;1995692;1995694;1995696;1995698;1995700;1995702;1995704;1995706;1995708;1995710;1995712;1995714;1995716;1995718;1995720;1995722;1995724;1995726;2095596;2095598;2095600;2112212;2141918;5015911;5117853;5117855 D5S2591;D5S2781;ECD00779;ECD01256;ECD01399;ECD01587;G15899;GDB:374166;GDB:624806;GDB:624816;PMC102624P2;REN68751;REN68752;REN68753;REN68754;REN68755;REN68756;REN68757;REN68758;REN68759;REN68760;REN68761;REN68762;REN68763;REN68764;REN68765;REN68766;REN68767;REN68768;REN68769;REN68770;REN68771;STS-M11220;STS-M13207;stSG601036;stSG601037;stSG601038 CSF;GMCSF;MGC131935;MGC138897 OTTHUMP00000065962;colony-stimulating factor;granulocyte-macrophage colony stimulating factor;granulocyte-macrophage colony-stimulating factor;molgramostin;sargramostim APPROVED protein-coding ENSG00000164400 HGNC:2434 00734 138960 REVIEWED 737004 CSF1R colony stimulating factor 1 receptor The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 5 5 5 q32 145514237 145574309 - 149432854 149492935 - 150053291 150113372 - 1580863;2299119;2293712;2299092;2293711;2293638;6480464;6907045;2311340;7257574;7257569;7240710;7257565;7257566;8554872;8699517 12381783;14734466;16951369;18510570;18565574;18592004;19242505;19466391;22052465;23143303 10022833;10025673;10499626;10597251;10648820;11297560;11847211;11850825;11852791;11891846;12031912;12130514;12133942;12372416;12477932;12485477;12529666;12773394;1334406;14654075;14738146;15117969;15144560;15203218;15297464;15626739;15735664;16034075;1611909;16170366;16335952;16341674;16344560;16600665;16631474;16648572;16708222;16823860;17292918;17360941;17420255;17512498;17675037;17880962;17893228;17960171;17981568;18294963;1829836;1833648;18593464;18676680;18788612;18814279;18971950;18997822;19017797;19132917;19151756;19170196;19321746;19351817;19375163;19377443;19453261;19585521;19625176;19692168;19762488;20098615;20181277;20379614;20504948;20574656;20974809;21041311;21049007;21063905;21466808;21567396;2172781;21880693;21890473;22084313;22096574;22153499;22186992;22197934;22365076;22375015;22407921;22934315;22939624;22955918;23038421;23052599;23116709;23392676;23398456;23408870;23418320;23649896;23744080;23787135;23816250;23889897;23924795;24034409;2406720;2408759;24120500;24145216;2421165;24336230;24501781;24619759;24807373;24955855;2524025;2524648;2846185;2978516;2986142;3022923;3484837;3525854;3532121;3974576;4028159;7520523;7636265;7681396;7683918;7782294;8001978;8262059;8355686;8786123;8922060;8947469;8981357;9027509;9178909;9191055;9380408;9616179;9624537;9857184 1436 A2VDG3;D6RGW1;E9PEK4;H0YAL5;P07333 AB208819;ABBA01026285;ABBA01026286;ABBA01026287;AC011382;AI863331;AK294467;AK304491;AMYH02012455;BC047521;BC129939;BM562096;BM825705;BQ028933;BX648599;CD620053;CH471062;CS166288;DA219251;DR001419;EU826593;FB505362;HI638416;JA312081;K03012;M11067;M14002;M14193;M25786;NG_012303;NM_001288705;NM_005211;NR_109969;U63963;U78096;X03663 AAA35834;AAA35848;AAA35849;AAA58421;AAA88039;AAB51235;AAB51696;AAH47521;AAI29940;ACF47629;BAD92056;BAG57697;BAG65300;CAA27300;CAJ32237;CAV32774;CBX55881;CCA65436;EAW61749;EAW61750;NP_001275634;NP_005202;P07333 Hs.586219 1654774;1668579;1672728;1741665;1742167;1742169;1742865;1792704;1792706;1792708;1795630;1796498;1851272;2115613;2146771;2150928;2161230;2164001;5021962;5491437 CSF1R_1770;D16S674;D5S1469;D5S1865;D5S2602;D5S2619;GDB:181638;GDB:192951;GDB:192952;GDB:212649;MARC_12115-12116:1004707389:1;PDGFRB_1343;PMC156747P2;PMC156747P3;PMC156747P4;RH15986;RH69916;Rpl7;WI-18300;WI-18889 C-FMS;CD115;CSF-1R;CSFR;FIM2;FMS;HDLS;M-CSF-R CD115 antigen;CSF-1 receptor;CSF-1-R;FMS proto-oncogene;McDonough feline sarcoma viral (v-fms) oncogene homolog;OTTHUMP00000160525;OTTHUMP00000224093;macrophage colony stimulating factor I receptor;macrophage colony-stimulating factor 1 receptor;proto-oncogene c-Fms APPROVED protein-coding ENSG00000182578 HGNC:2433 01269 164770;221820 REVIEWED 1351351 CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008] X X;Y X;Y p22.32 and Yp11.3 5684057 5726879 + 1387693 1428828 + 1264832 1322871 + 1580863;6480464;6484113;6907045;7240710;8699517;8554872 10477722;10572088;10584986;10734053;11169747;11238105;12384414;12393492;12421947;12477932;12504125;12538575;12604332;12637324;12670335;12759409;1358805;14504109;14614142;15489334;16760463;1702217;1715577;17474147;17522711;17681666;18236400;1832774;18547720;18678938;18692472;18955567;18955570;19099633;19281803;1972780;20078425;21056082;2148207;21557945;22430742;22935703;23898208;23933508;24714374;2555171;2828352;7945472;7957082;7994031;8086503;8144676;8547489;8910448;8943427;9028317;9211889;9446667;9625584;9685210;9723668 1438 F2Z3C9;J3JS73;J3JS74;P15509;V9GYE9 ABBA01055739;ABBA01055740;ABBA01055741;ABBA01055742;AK293086;AK301395;AK309630;AL833597;AMYH02038673;AMYH02038674;AMYH02038675;BC002635;BC071835;BI868829;BM149332;BX649553;BX901885;CH471074;D26628;DQ841258;L29348;L29349;M64445;M73832;NG_012280;NM_001161529;NM_001161530;NM_001161531;NM_001161532;NM_006140;NM_172245;NM_172246;NM_172247;NM_172249;NR_027760;S48475;S48539;U93096;X17648;X54935;XM_006724437;XM_006724438;XM_006724439;XM_006724440;XM_006724441;XM_006724858;XM_006724859;XM_006724860;XM_006724861;XM_006724862 AAA35908;AAA35909;AAA60961;AAA60962;AAB23942;AAB51535;AAH02635;AAH71835;ABI32309;ABM84030;ABM87375;BAA05656;BAF85775;BAG62930;CAA35638;CAA38697;EAW98673;EAW98674;EAW98675;EAW98676;EAW98677;EAW98678;NP_001155001;NP_001155002;NP_001155003;NP_001155004;NP_006131;NP_758448;NP_758449;NP_758450;NP_758452;P15509;XP_006724500;XP_006724501;XP_006724502;XP_006724503;XP_006724504;XP_006724921;XP_006724922;XP_006724923;XP_006724924;XP_006724925 Hs.520937 1731048;2157515;5019246;5020948;5119807 D10S276;DYS430;G35510;GDB:177399;GDB:182005 CD116;CDw116;CSF2R;CSF2RAX;CSF2RAY;CSF2RX;CSF2RY;GM-CSF-R-alpha;GMCSFR;GMR;MGC3848;MGC4838;SMDP4 CD116 antigen;GM-CSF receptor alpha subunit;GMCSFR-alpha;GMR-alpha;OTTHUMP00000014504;OTTHUMP00000014505;OTTHUMP00000014506;OTTHUMP00000014507;OTTHUMP00000014508;OTTHUMP00000014917;OTTHUMP00000014918;OTTHUMP00000014919;OTTHUMP00000014920;colony stimulating factor 2 receptor alpha subunit;granulocyte-macrophage colony-stimulating factor receptor alpha chain;granulocyte-macrophage colony-stimulating factor receptor subunit alpha APPROVED protein-coding ENSG00000198223 HGNC:2435 02381 300770;306250;425000 REVIEWED 1349987 CSF2RBP1 colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) pseudogene 1 22 22 22 q13.1 21147893 21151087 - 37346572 37349765 - 36950530 36953724 - 10591208;9361008 23772 ABBA01055453;ABBA01055454;AL133392;AMYH02038328;KF511457;NG_002638 CSF2RB2;fF45C1.2 APPROVED pseudo HGNC:2437 INFERRED 1348418 CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008] 22 22 22 q13.1 21111014 21137820 + 37309639 37336491 + 36913597 36940449 + 632531;1601020;1580863;6480464;6484113;6907045;8699517;8554872;7240710 17145927;7643220 10362354;10477722;10490850;10704825;10736232;10753826;10772872;11101310;11122381;11207369;11551900;11557047;12202242;12384414;12393492;12477932;12488507;12637324;1424804;1495999;15060062;15308671;15461802;16007196;1638019;16754968;16767694;1702217;17362254;17667962;17828305;18294864;18322230;18326494;1833064;1833065;18374598;18547720;18692472;18804346;19065143;19453261;19913121;20078425;20472554;20516062;20628086;20654748;20705940;20802515;21071541;21176354;21205713;21207215;21247258;2151610;2157779;21965659;22138694;22935703;23108143;23572530;24086733;2645577;7527392;7556069;7636265;7682176;7775438;7796808;7896837;8180376;8213838;8246974;8278375;8631962;8649415;8666899;8666948;8752899;9162089;9195918;9211889;9254654;9257712;9278420;9389692;9410898;9516124;9677359;9973406 1439 B0QY07;B4DZL8;P32927;Q6NSJ8 ABBA01055451;ABBA01055452;ABBA01055453;AK302993;AL008637;AL133392;AMYH02038328;BC070085;CH471095;CR456428;M59941;NG_008040;NM_000395;XM_005261340;XM_005261342 AAA18171;AAH70085;BAG64130;CAG30314;CAK54420;CAK54719;EAW60125;EAW60126;NP_000386;P32927;XP_005261397;XP_005261399 Hs.592192 1684248;1722259;1722261;1722297;1732187;1775878;1854777;2122051;2128246 D22S102;D22S527;G15967;G60036;G60037;G60062;RH17707;RH47094;WIAF-1672 CD131;CDw131;IL3RB;IL5RB;SMDP5 GM-CSF/IL-3/IL-5 receptor common beta subunit;GM-CSF/IL-3/IL-5 receptor common beta-chain;OTTHUMP00000197801;OTTHUMP00000197802;colony-stimulating factor-2 receptor, beta, low-affinity;cytokine receptor common subunit beta;interleukin 3 receptor/granulocyte-macrophage colony stimulating factor 3 receptor, beta (high affinity) APPROVED protein-coding ENSG00000100368 HGNC:2436 00739 138981;614370 REVIEWED 1350955 CSF3 colony stimulating factor 3 (granulocyte) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes. The active protein is found extracellularly. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] 17 17 17 q11.2-q12 34831674 34834127 + 38171614 38174066 + 40015361 40017813 + 1580863;2317284;2311241;5133738;5131473;5133737;5134350;5133733;5133731;5133732;6480464;6907045 17656664;18832793;18848347;20405019;21155037;21373266;21396376;9374735 10364174;10473051;10584986;10617744;11436203;11795665;11861308;11877288;11920209;12009905;12027409;12034575;12152985;12393522;12393561;12397015;12456601;12477932;12548211;12562880;12568301;12627849;12636092;12676791;12717025;1281454;1281794;12946100;12954601;14587040;14751388;14769149;15019810;15028279;15214947;15218949;15576295;15616013;15622763;15664994;16037394;16051386;16211258;16230423;16492764;16498082;16712791;16735597;16822885;16912178;1692828;16980970;17047971;17115186;17176065;17342342;17572226;17703412;17852446;17879956;17894541;18029348;18095095;18196568;18219369;18297540;18353856;18358673;18484240;18515229;18537187;18597629;18633131;18675273;18676680;18785976;18806347;18952897;19141860;19151252;19170196;19172109;19258923;19453261;19526310;19539215;19625176;19640182;19692168;19789190;19913121;20012635;20021260;20139978;20172861;20179985;20237318;20237496;20361316;20435882;20452482;20485444;20503287;20523065;20557950;20628086;20673868;20680910;20810026;20957751;20959405;21039040;21079612;21092001;21224471;21262770;21273924;21334074;21335665;21524920;21539498;21645282;21738478;21738480;21844566;21935680;21981141;21999467;22045733;22120987;22171570;22313638;22336152;22440005;22443081;22465760;22528488;22751169;22788528;22829643;22944463;23063381;23087180;23244154;23319418;23530240;23548906;23750212;24151579;2420009;2423327;2448221;2453015;2456256;3034599;3484805;3494801;3499671;3501046;7518249;7522243;7524894;7685117;8554326;8708536;8794774 1440 J3KTH8;J3QRD4;J3QRX2;P09919;Q6FH65;Q8N4W3 AB102881;ABBA01031851;AC090844;AF388025;AK290247;AK298116;AK313509;AMYH02033391;BC033245;CB127794;CD013926;CH471152;CR541891;FB704344;HM132049;M13008;M17706;M20922;NM_000759;NM_001178147;NM_172219;NM_172220;NR_033662;X03438;X03655;X03656 AAA03056;AAA35882;AAA66353;AAH33245;AAK62469;ADI49832;BAD89410;BAF82936;BAG36289;BAG60399;CAA27168;CAA27290;CAA27291;CAG46689;CAS03439;EAW60626;EAW60627;EAW60628;NP_000750;NP_001171618;NP_757373;NP_757374;P09919 Hs.2233 1722243;1741199;1794518;1797440;1855889;2162567 CSF3_10.2;D17S2007;G60027;GDB:178573;PMC316641P2;RH18072 C17orf33;CSF3OS;G-CSF;GCSF;MGC45931 OTTHUMP00000164325;OTTHUMP00000164326;OTTHUMP00000164327;OTTHUMP00000164328;filgrastim;granulocyte colony-stimulating factor;lenograstim;pluripoietin APPROVED protein-coding ENSG00000108342 HGNC:2438 00736 138970 REVIEWED 1319271 CSF3R colony stimulating factor 3 receptor (granulocyte) The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010] 1 1 1 p35-p34.3 35207427 35224699 - 36931644 36948915 - 36466043 36483314 - 5133739;5133738;6480464;6907045;7240710;8554872;8699517 17185469 10364174;10729720;10837195;11468284;11714811;11911419;11920194;12012328;12100165;12133942;12422946;12477932;12586631;12660437;1371413;14557262;14587040;14737106;14751388;14992583;15123426;1530796;15370243;15470047;15489334;15644419;16033816;16344560;16492764;16493051;16985178;17001306;1701053;17024119;17047971;1717255;17187068;17363902;17494858;17572226;17703412;1833306;18536571;18923646;19099633;19258923;19453261;19453968;19620628;19794089;19833857;20237318;20471446;20503287;20557950;20654748;20696205;20819538;21129254;21155715;2147944;21641233;22146088;22796466;23159284;23508011;23656643;23687340;23774674;23820376;23897249;24081659;24403076;24445868;24523240;24746896;24753537;2480598;7512720;7514305;7542747;7682568;7775438;8197119;8554326;8664280;8708536;8855939;8889548;9187659;9368043;9790917;9824671;9864141 1441 E9PK56;H0YE86;Q99062 AB209656;ABBA01023295;AC119675;AK307242;AMYH02000788;AY148100;BC040954;BC053585;BI912247;BU681211;BX370109;CH471059;DA858302;DQ424902;M59818;M59819;M59820;NG_016270;NM_000760;NM_156039;NM_172313;S71484;X55720;X55721;XM_005270492;XM_005270493;XM_005270495 AAA63176;AAA63177;AAA63178;AAB20660;AAH53585;AAN05790;ABD83667;BAD92893;CAA39252;CAA39253;EAX07354;EAX07355;EAX07356;EAX07357;EAX07358;NP_000751;NP_724781;NP_758519;Q99062;XP_005270549;XP_005270550;XP_005270552 Hs.524517 1647500;1795632;2151760;5117807;5117809 CSF3R_1336;GDB:607675;GDB:607682;RH78993;SHGC-74604 CD114;GCSFR CD114 antigen;G-CSF receptor;G-CSF-R;OTTHUMP00000009703;OTTHUMP00000009704;OTTHUMP00000009705;granulocyte colony-stimulating factor receptor APPROVED protein-coding ENSG00000119535 HGNC:2439 00737 138971;162830 REVIEWED 1601858 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ENCODES a protein that exhibits acetylgalactosaminyltransferase activity; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity; glucuronosyltransferase activity; INVOLVED IN chondroitin sulfate biosynthetic process; chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; UDP-glucuronate metabolic process; PARTICIPATES IN chondroitin sulfate biosynthetic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi cisterna membrane (inferred); Golgi membrane (inferred); intracellular (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; arsenous acid 8 8 8 p21.3 18225010 18503692 - 19261672 19540261 - 19404161 19757245 - 6480464;6907045;8554872 11514575;11788602;12163485;12446672;12477932;12975309;14702039;15489334;16344560;17145758;19701759;19730683;20379614;21160489;22156920;22939629;23726668;23748413 55790 E5RGB2;E5RGK2;E5RJB6;E5RK93;Q8TDX6 AB071403;AB081516;ABBA01021554;ABBA01021555;ABBA01021556;ABBA01021557;ABBA01021558;AC090541;AC090786;AC116376;AK002124;AK002126;AK023822;AK055154;AK314625;AL157483;AMYH02017558;AMYH02017559;AMYH02017560;AMYH02017561;AMYH02017562;AMYH02017563;AMYH02017564;AMYH02017565;AMYH02017566;AMYH02017567;AY358441;BC060772;BQ016671;BX104931;BX649103;CH471080;CR998055;DA244956;DA404904;DA981630;KF458693;KF458695;KF458697;NM_001130518;NM_018371;NR_024040;XM_006716358;XM_006716359;XM_006716360;XM_006716361;XM_006716362;XM_006716363;XM_006716364;XM_006716365;XM_006716366 AAH60772;AAQ88806;BAA92093;BAB85992;BAC16217;BAG37191;BAG51476;CAB75673;EAW63770;EAW63771;EAW63772;NP_001123990;NP_060841;Q8TDX6;XP_006716421;XP_006716422;XP_006716423;XP_006716424;XP_006716425;XP_006716426;XP_006716427;XP_006716428;XP_006716429 Hs.613729;Hs.721954 1649176;1667960;1698888;1703644;1778113;1853305;2126440;5015861;5022322;5024039;5109281;7185938 AFMA125YC5;D10S16;D11S2560;D16S325;D1S1425;D8S1643;G32206;RH103012;RH68573;SHGC-78756;WI-21956 CSGalNAcT-1;ChGn;FLJ11264;FLJ13760;beta4GalNAcT OTTHUMP00000161400;OTTHUMP00000224750;OTTHUMP00000224752;beta4GalNAcT-1;chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1;chondroitin beta1,4 N-acetylgalactosaminyltransferase protein-coding ENSG00000147408 HGNC:24290 13114 VALIDATED 1604805 CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Dec 2012] 10 10 10 q11.21 39637088 39685330 + 43633893 43680756 + 43138445 43185308 + 6480464;6907045;8554872 11788602;12433924;12446672;12477932;14702039;15489334;16385451;19196962;19298595;19946888;22590693 55454 Q8N6G5 AA721408;AB079252;AB090811;ABBA01049996;AC010864;AF086458;AF116646;AK074474;AK125300;AMYH02022706;AMYH02022707;BC030268;BX102005;BX640967;BX641073;CH471160;DA674683;DB291068;KF455240;NM_018590;XM_005271819;XM_005271820;XM_005271821 AAF71068;AAH30268;ABM82395;ABM85579;BAB85092;BAC55935;BAC55936;BAG54179;CAE45982;CAE46036;EAW86586;EAW86587;NP_061060;Q8N6G5;XP_005271876;XP_005271877;XP_005271878 Hs.657569;Hs.744559 2123141;2156236 A008J24;UniSTS:51004 CHGN2;DKFZp686H13226;FLJ43310;GALNACT-2;GALNACT2;MGC40204;PRO0082 OTTHUMP00000019478;beta 4 GalNAcT-2;beta4GalNAcT-2;chondroitin beta-1,4-N-acetylgalactosaminyltransferase 2;chondroitin beta1,4 N-acetylgalactosaminyltransferase 2;chondroitin sulfate GalNAcT-2 protein-coding ENSG00000169826 HGNC:24292 11348 REVIEWED 1352564 CSH1 chorionic somatomammotropin hormone 1 (placental lactogen) The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 56360324 56362038 - 61972268 61974027 - 63894908 63896661 - 1580863;6480464;6907045;8554872 10391209;10931946;10966654;11502836;11897833;12477932;12644709;12655557;12682290;1378436;14642004;14673137;14702039;14997482;15001589;15231748;15489334;1549776;15531513;15713716;16344560;16410683;16546209;16807684;16950818;17125497;17207965;17400796;18292525;19047151;19290844;1980158;20233782;20237496;20427283;20881960;21737519;21765243;22387044;23465880;23563607;23744883;25009770;2744760;2835050;3030680;3447173;377496;386281;3912261;438159;4675454;4712450;5144027;5279046;5279528;5286363;5810834;593368;611657;6208192;6209277;6269091;6300056;7028740;71212;7169009;7356479;7462247;7984244;8552145;8674830;8943276;9152628;9276733;9312053;9329365 1442 A6NFB4;A8K6C2;B1A4H2;P0DML2;P0DML3 ABBA01035315;AC040958;AC127029;AK291587;AU134786;BC002717;BC005921;BC020756;BC057768;BC062775;BG436049;BQ004002;BT006926;CH471109;EU421714;HC006886;J00118;J03071;K02401;M25118;M35419;M90545;NG_028354;NM_001317;V00593 AAA35721;AAA52115;AAA52551;AAA98621;AAH02717;AAH05921;AAH20756;AAH57768;AAH62775;AAP03711;AAP35572;ABZ88716;ABZ88717;ABZ88718;ADQ31682;BAF84276;CAA23840;CBH19248;EAW94235;EAW94236;EAW94237;EAW94241;EAW94243;EAW94254;EAW94257;EAW94259;NP_001308;P0DML2 Hs.654390 1797442;2110851;2217206;5014941 CSH1_2237;CSHL1_2704;D17S254;STS-J03756 CS-1;CSA;CSH2;CSMT;FLJ75407;PL;hCS-1;hCS-A choriomammotropin;chorionic somatomammotropin A;chorionic somatomammotropin hormone;chorionic somatomammotropin hormone 1;chorionic somatomammotropin-1;lactogen;placental lactogen APPROVED protein-coding ENSG00000136488 HGNC:2440 08350 150200 REVIEWED 1351257 CSH2 chorionic somatomammotropin hormone 2 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 56337485 56339203 - 61949372 61951089 - 63872012 63873729 - 1580863;6480464 10944529;12477932;12703979;1378436;15231748;15489334;15531513;1980158;21737519;22387044;2744760;3030680;438159;4712450;5286363;593368;6208192;6209277;6300056;7072716;7169009;8674830;9312053 1443 A6NIT4;B1A4H9;H0YM39;P0DML3 ABBA01035315;ABBA01035316;ABBA01035317;AC015651;AMYH02033781;BC022044;BC035965;BC119748;CR615915;EU421716;J00289;J03071;M15894;NM_020991;NM_022644;NM_022645;V00573 AAA52116;AAA52553;AAA98747;AAH22044;AAH35965;AAI19749;ABM83752;ABM87071;ABZ88723;ABZ88724;ABZ88725;CAA23836;NP_066271;NP_072170;NP_072171;P0DML3 Hs.654515 1777385;2110851;5014941 D17S254;RH66837;STS-J03756 CS-2;CSB;PL;hCS-B choriomammotropin;chorionic somatomammotropin B;lactogen;placental lactogen APPROVED protein-coding ENSG00000213218 HGNC:2441 06688 118820 REVIEWED 1342785 CSHL1 chorionic somatomammotropin hormone-like 1 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 56375014 56376667 - 61986965 61988688 - 63909605 63911258 - 1580863;6480464;8554872 12370315;12477932;1378436;1980158;19913121;20628086;2744760;3030680;8083227 1444 H0YKQ4;H7C3R7;I6L999;J3QT06;Q14406 ABBA01035315;AC127029;AMYH02033784;BC029365;BC119747;CH471109;EU421713;HC006888;J03071;M15895;NM_001318;NM_022579;NM_022580;NM_022581 AAA52550;AAH29365;AAI19748;CBH19249;EAW94245;EAW94246;EAW94250;EAW94253;EAW94262;EAW94264;NP_001309;NP_072101;NP_072102;NP_072103;Q14406 Hs.655225 1339379;1680024;1791996;1797442;2217206;5014941 CSH1_2237;CSHL1_2704;D17S701;PMC134699P2;RH93308;STS-J03756 CS-5;CSHP1;CSL;MGC149868;hCS-L chorionic somatomammotropin CS-5;chorionic somatomammotropin-like;growth hormone cluster;lactogen-like APPROVED protein-coding ENSG00000204414 HGNC:2442 04623 603515 REVIEWED 1318780 CSK c-src tyrosine kinase ENCODES a protein that exhibits identical protein binding; INVOLVED IN negative regulation of Golgi to plasma membrane protein transport; PARTICIPATES IN platelet-derived growth factor signaling pathway; neurotrophic factor signaling pathway; Shigella infection pathway; ASSOCIATED WITH Carcinoma, Hepatocellular; Arthritis, Experimental (ortholog); Dermatitis (ortholog); FOUND IN extracellular vesicular exosome; plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; arachidonic acid 15 15 15 q24.1 52024458 52045568 + 75074425 75095539 + 74782084 74803198 + 1580863;5134371;5134365;5134363;5134372;6480464;6484113;6907045;8554872 10411542;14975240;15961079;9918913 10026153;10037694;10210201;10733577;10753943;10790433;10801129;10918051;11035005;11084024;11149930;11158295;11181701;11278940;11433379;11602604;11685249;11695992;11724538;11724572;11805080;11834728;11872746;11875070;11971983;11976726;12048194;12052863;12387813;12400005;12402152;12468645;12473651;12477932;12485116;12547828;12588871;12645577;12665526;12686554;12697812;12707358;12782282;12794155;12871315;1371489;1377109;14561750;14610046;14657361;14702039;14707140;14993273;15144186;15175272;15474475;15489334;15574420;15623523;15743820;15749833;15861137;15890649;16002086;16005629;16135530;16380958;16439366;16532030;16636672;16729043;16740711;16858407;16859511;16964398;17012367;17018524;17056000;17060931;17125257;17132222;17137590;17143285;17192257;1720539;17223712;17325034;17329398;17491594;17525734;17691821;17692281;17936276;17936985;17951261;18029348;18039857;18255255;18258597;18268019;18332219;18445593;18482983;18614016;19018258;19056867;19147678;19167335;19198071;19262695;19288857;19322201;19380743;19430479;19430483;1945408;19464057;19520085;19561643;19565264;19757166;19818398;1985196;19887846;19888460;19913121;19960030;20010872;20056178;20360068;20414254;20434462;20453000;20479155;20542020;20628086;21045733;21139048;21156787;21245141;21367918;21490707;21513978;21538482;21562048;21706016;21782877;21890473;21909110;21909115;22038627;22407130;22505724;22521508;22959498;23042117;23108098;23359562;23383002;23383273;23455922;23671128;23740937;23804206;23824743;23923048;23946333;24015220;24103328;24180592;24250222;24300854;24648518;24778252;24797263;24816145;24996174;7511113;7512694;7513429;7515063;7529872;7544435;7678701;7683131;8125298;8262983;8612628;8619474;8621646;8631894;8890164;9110174;9148770;9172452;9208935;9221755;9553134;9582365;9621077;9624175;9794236;9858471 1445 A8K3B6;B2R6Q4;H3BN15;H3BU69;H3BUM9;P41240 AB451288;AB451420;ABBA01060502;AC091230;AK127672;AK223626;AK290531;AK297694;AK298245;AK309344;AK310136;AK312669;AMYH02030798;AW575209;AY007162;BC104847;BC104875;BC106073;CH471136;CR541960;DQ075211;NM_001127190;NM_004383;X59932;X60114;X74765;XM_005254165 AAI04848;AAI04876;AAI06074;AAY57329;BAD97346;BAF83220;BAG35551;BAG54548;BAG60052;BAG60511;BAG70102;BAG70234;CAA42556;CAA42713;CAB58562;CAG46758;EAW99311;EAW99312;NP_001120662;NP_004374;P41240;XP_005254222 Hs.77793 1666109;1793062;2118639;2181591;2189407;2217208 CSK_3956;MARC_5011-5012:991939428:1;PMC193924P3;RH69961;RH70899;RH77839 MGC117393 C-Src kinase;OTTHUMP00000183471;protein-tyrosine kinase CYL;tyrosine-protein kinase CSK protein-coding ENSG00000103653 HGNC:2444 00496 124095 VALIDATED 1312937 CSMD1 CUB and Sushi multiple domains 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH levonorgestrel; methamphetamine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 8 8 8 p23.2 2767236 4826852 - 2792875 4852328 - 2935353 4994806 - 6480464;8554872 11472063;11572484;12696061;12874026;12906867;12975309;14506705;14671302;14702039;15138198;15203218;15342556;16147992;16153303;16203795;16221525;16421571;16547280;18519826;18614856;19010793;19132087;19240061;19276661;19383911;19389623;19669408;19960030;20125193;20200978;20379614;20610895;20709820;20944657;20953187;21347282;21439553;21901158;21926974;22424883;22538441;22542470;22688191;22993228;23251661;23320435;23382691;23453885;23472165;23505554;23535033;23541940;23568457;23583980;23648065;23698163;23839771;23942779;23964079;23966867;24024966;24058526;24165912;24166486;24324551;24387768;24408017 64478 E5RIG2;F5GZ18;F8W9C3;H7BXU2;Q59FF8;Q96PZ7 AA889055;AB067477;AB209502;ABBA01007075;ABBA01007076;ABBA01007077;ABBA01007078;ABBA01007079;ABBA01007080;ABBA01007081;ABBA01007082;ABBA01007083;ABBA01007084;ABBA01007085;ABBA01007086;ABBA01007087;ABBA01007088;ABBA01007089;ABBA01007090;ABBA01007091;AC009428;AC009707;AC010941;AC012543;AC021523;AC022068;AC022846;AC022910;AC023296;AC026991;AC027251;AC087367;AC087692;AC090875;AC103782;AC103826;AC105998;AC107945;AC113147;AC135324;AF333704;AK126857;AK126936;AK127129;AMYH02017245;AMYH02017246;AMYH02017247;AMYH02017248;AMYH02017249;AMYH02017250;AMYH02017251;AMYH02017252;AMYH02017253;AMYH02017254;AMYH02017255;AMYH02017256;AMYH02017257;AMYH02017258;AMYH02017259;AMYH02017260;AMYH02017261;AMYH02017262;AMYH02017263;AMYH02017264;AMYH02017265;AMYH02017266;AMYH02017267;AW293447;AY017307;AY358174;AY407073;BP229721;BX107340;CD634856;CH471153;D51420;FJ695212;KF458662;KF458665;KF458666;KF458667;NM_033225 AAG52948;AAI56305;AAK73475;AAQ88541;BAB67783;BAD92739;EAW80463;EAW80464;NP_150094;Q96PZ7 Hs.571466 1331550;1336083;1336448;1337398;1338377;1338734;1338751;1339604;1340736;1649013;1656021;1656667;1659652;1663836;1695226;1695438;1697212;1702038;1703294;1709628;1710798;1713077;1714177;1715249;1721209;1721913;1722601;1722797;1723141;1723789;1724859;1725459;1726553;1730227;1730403;1749917;1750785;1751061;1755113;1757135;1758763;1759721;1770939;1774650;1779906;1849256;1850651;1852722;1853978;2128115;2138507;2159600;2176086;2183358;2186990;5021894;5024903;5094811;5106625;7185009;7186252;7187864 39039612;A005D01;AFMB322ZH9;ATT023;B348YA5;D13S1284;D8S1086;D8S1458;D8S1781;D8S1788;D8S1806;D8S1824;D8S1963;D8S201;D8S2032;D8S2045;D8S2103;D8S262;D8S289E;D8S290E;D8S518;DXS1294;G59445;G59989;G60340;G60384;G62657;M94662;RH102098;RH118632;RH119125;RH119192;RH119698;RH119875;RH120326;RH123754;RH12823;RH17882;RH18105;RH18367;RH47868;SHGC-103014;SHGC-105022;SHGC-111636;SHGC-142041;SHGC-144569;SHGC-150802;SHGC-150803;SHGC-154113;SHGC-33623;SHGC-62932;SHGC-68408;SHGC-68813;SHGC-84140;SHGC-85176;WI-13532;WI-13936;WI-15704;ha2356 KIAA1890;PPP1R24;PPP1R65 CUB and sushi domain-containing protein 1;CUB and sushi multiple domains protein 1;OTTHUMP00000224439;OTTHUMP00000224497;OTTHUMP00000224498;protein phosphatase 1, regulatory subunit 24;protein phosphatase 1, regulatory subunit 65 protein-coding ENSG00000183117 HGNC:14026 10523 608397 VALIDATED 8656087 CSMD2-AS1 CSMD2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 1 1 34334557 34351059 + 33868956 33885458 + 8554872 12477932 402779 ABBA01023372;AL121980;AMYH02000738;BC031866;HG491896;HG491901;NR_038372 Hs.666207 ncrna ENSG00000231163 HGNC:40882 VALIDATED 1347365 CSMD2 CUB and Sushi multiple domains 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; atrazine 1 1 1 p34.3 32251406 32903645 - 33979609 34631443 - 33513999 34165842 - 1580863;6480464;8554872 11572484;12477932;12906867;14702039;15489334;16429158;16710414;17474147;18839057;19240061;19913121;20171287;20360844;20379614;20467438;20628086;21439553;22952603;23319000;24408017 114784 Q5T6B5;Q5TAH7;Q7Z408 AB067471;AB212622;ABBA01023369;ABBA01023370;ABBA01023371;ABBA01023372;ABBA01023373;ABBA01023374;ABBA01023375;AC115285;AC115286;AC116993;AK022620;AK095627;AK122603;AK127722;AK291019;AL121980;AL139140;AL161643;AL355178;AL596224;AL607106;AMYH02000735;AMYH02000736;AMYH02000737;AMYH02000738;AMYH02000739;AMYH02000740;AMYH02000741;AMYH02000742;AMYH02000743;AY210418;BC031871;CH471059;KF495903;KF495908;KF495911;KF510204;NM_001281956;NM_052896 AAH31871;AAO34701;BAB67777;BAC04593;BAC87101;BAD97692;BAF83708;EAX07447;EAX07448;EAX07449;EAX07450;EAX07451;NP_001268885;NP_443128;Q7Z408 Hs.656915 1335854;1337330;1338012;1338435;1643803;1659514;1666036;1681103;1691850;1691894;1692342;1693238;1695834;1706612;1712024;1718517;1720551;1720671;1723951;1724931;1732918;1732930;1733044;1733136;1733142;1759067;1760379;1761479;1766089;1766193;1773570;1776670;1851060;1855523;1856722;2110335;2118872;2139420;2140883;2143097;2145342;2167459;2167879;2170369;2190801;5022663;5037552;7186243 AFM286zb1;AHT035;AL009777;AL010095;AL033572;AL033588;AL033828;AL033981;ATA79C10;CSMD2__4646;D1S1325;D1S1331;D1S1397;D1S1449;D1S1455;D1S1560;D1S1708;D1S201;D1S2147;D1S2182;D1S2783;D1S2830;D1S296E;D1S3152;D1S3386;D8S2279;G09485;G16231;G59149;G59229;LOC127540;RH118686;RH118708;RH119232;RH122460;RH64490;RH98973;SHGC-142122;SHGC-145485;SHGC-149472;SHGC-149559;SHGC-150964;SHGC-74558;SHGC-74559;SHGC-74571;SHGC-78766;SHGC-82706 KIAA1884;dJ1007G16.1;dJ1007G16.2;dJ947L8.1 CUB and Sushi (SCR repeat) domain;CUB and sushi domain-containing protein 2;CUB and sushi multiple domains protein 2;OTTHUMP00000012838 protein-coding ENSG00000121904 HGNC:19290 13094 608398 VALIDATED 1316806 CSMD3 CUB and Sushi multiple domains 3 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 8 8 8 q23.3 109421737 110635827 - 113235157 114449242 - 112222928 113437013 - 6480464;8554872 11572484;12477932;12906867;12943675;14702039;15523607;18270536;19528667;19850743;20379614;21139048;21351276;22699663;22832960;23897914 114788 H7BXX0;Q7Z407 AB067481;AB114604;AB114605;ABBA01037738;ABBA01037739;ABBA01037740;ABBA01037741;ABBA01037742;ABBA01037743;ABBA01037744;ABBA01037745;ABBA01037746;ABBA01037747;ABBA01037748;ABBA01037749;ABBA01037750;ABBA01037751;ABBA01037752;ABBA01037753;ABBA01037754;AC007719;AC009424;AC021264;AC024996;AC027189;AC055788;AC067903;AC087710;AC104380;AC107890;AK095111;AK126252;AMYH02018624;AMYH02018625;AMYH02018626;AMYH02018627;AMYH02018628;AMYH02018629;AMYH02018630;AMYH02018631;AMYH02018632;AMYH02018633;AY210419;BC140003;BX648252;CH471060;KF458828;NM_052900;NM_198123;NM_198124 AAI40004;AAO34702;BAB67787;BAC82443;BAC82444;EAW91944;EAW91945;EAW91946;EAW91947;EAW91948;NP_443132;NP_937756;NP_937757;Q7Z407 Hs.91381 1334768;1334906;1334980;1335686;1336147;1338082;1339506;1340455;1340808;1342012;1645637;1646863;1668469;1679221;1695582;1708142;1713887;1716187;1726513;1731901;1734096;1734102;1746929;1746931;1777049;1851139;2143682;2162210;5014051;5022200;5037552;7185381 AFMB331YA9;D8S1008;D8S1022;D8S1139;D8S1202;D8S1204;D8S1465;D8S1471;D8S1698;D8S1779;D8S1787;D8S2043;D8S2083;D8S2278;D8S2279;D8S49;D8S539;D8S555;D8S588;G10411;G15824;G32131;G62637;G64770;G64771;L18426;RH119374;RH121116;SHGC-1966;SHGC-68831;SHGC-79311 KIAA1894 CUB and sushi domain-containing protein 3;CUB and sushi multiple domains protein 3;OTTHUMP00000211322;OTTHUMP00000211323;OTTHUMP00000211324;OTTHUMP00000211325 protein-coding ENSG00000164796 HGNC:19291 16329 608399 VALIDATED 1606842 CSN1S1 casein alpha s1 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH 5-azacytidine; disodium selenite; bisphenol A (ortholog) 4 4 4 q21.1 68150256 68165733 + 70796799 70812288 + 69931081 69946574 + 6480464;8554872 10971580;11329013;11827172;12477932;12633878;12878203;16502470;16683014;17403899;18173839;18850735;20304780;20936779;21135174;21361910;22474075;7556643;7619062;7665586;7698025;7790358;8192860;9050925;9820977 1446 D6RF34;E9PDQ1;H0Y8K1;P47710 ABBA01022922;AC108941;AMYH02009409;BC128227;BC128228;BG217918;CH471057;DQ064604;NM_001025104;NM_001890;U23157;X78416;X98084;XM_006714089;XM_006714090;XM_006714091 AAA69477;AAI28228;AAI28229;AAY68392;CAA55185;CAA66708;EAX05598;EAX05599;EAX05600;NP_001020275;NP_001881;P47710;XP_006714152;XP_006714153;XP_006714154 Hs.3155 1675790;1690298;2183786 RH91651;SHGC-68166;STS-X78416 CASA;CSN1;MGC149368 OTTHUMP00000219139;OTTHUMP00000219140;OTTHUMP00000219141;OTTHUMP00000219143;alpha-S1-casein;casein, alpha protein-coding ENSG00000126545 HGNC:2445 00280 115450 VALIDATED 1352220 CSN1S2BP casein alpha s2-like B, pseudogene This locus is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. [provided by RefSeq, Feb 2010] 4 4 4 q13.3 68357288 68370381 + 70999321 71012421 + 70133604 70146704 + 6480464 12751895;13679022 100337616 ABBA01022925;AC104811;AMYH02009412;AMYH02009413;AW104440;NR_033311 Hs.729824 CSN1S2B APPROVED pseudo HGNC:20227 VALIDATED 1343658 CSN1S2AP casein alpha s2-like A, pseudogene This locus is the equivalent of casein gamma in mouse (GeneID 12993) and is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 68286599 68304477 + 70933103 70950990 + 70067386 70085273 + 1580863;6480464 12477932;12751895;13679022 286828 Q8IUJ1 ABBA01022923;ABBA01022924;AC063956;AMYH02009409;AMYH02009410;AY154892;BC128170;BC128173;BC141914;BC150502;CH471057;KF459873;KF459874;KF459877;NR_003720 AAN85580;EAX05608 Hs.631945 CSN1S2A APPROVED pseudo ENSG00000234124 HGNC:20230 VALIDATED 1349233 CSN3 casein kappa INVOLVED IN lactation; protein stabilization; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH pirinixic acid; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 q21.1 68466083 68474894 + 71108333 71117149 + 70242616 70251428 + 1580863;6480464;8554872 10191473;11329013;11827172;12146463;12220626;12477932;1296818;15489334;15866733;16502470;17207965;17350042;17403899;17846126;18482256;18505157;22536414;4018271;7460900;7979373;8863730;9050925 1448 P07498 ABBA01022925;AC105347;AMYH02009413;BC010935;BG191674;CH471057;M73628;NM_005212;U51899;X66417 AAA59456;AAC50772;AAH10935;ADQ32820;CAA47048;EAX05614;NP_005203;P07498 Hs.54415 CSN10;CSNK;KCA OTTHUMP00000159765;kappa-casein protein-coding ENSG00000171209 HGNC:2446 03411 601695 VALIDATED 1352883 CSN2 casein beta ENCODES a protein that exhibits calcium ion binding (inferred); enzyme inhibitor activity (inferred); transporter activity (inferred); INVOLVED IN lactation; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH linalool; rosiglitazone; (+)-pilocarpine (ortholog) 4 4 4 q21.1 68174402 68180154 - 70820974 70826726 - 69955256 69961008 - 1580863;6480464;8554872 10971580;11551964;11583623;11864968;12146463;12477932;12788072;12860119;12901717;1382974;15147269;15201285;15489334;15618286;1577486;16502470;16947075;16973758;17403899;17620599;19400951;19460752;19463972;20936779;21145461;21454580;21903097;2387396;24189037;2717418;6715339;7698025;7790358;7979373;8112603;8565637;9187653;9795185 1447 P05814;W5RWE1 A24287;A30262;ABBA01022922;AC063956;AC108941;AF027807;AMYH02009409;BC069554;BC096194;BC096195;BC096196;BC096197;CH471057;KF751868;NM_001891;X13766;X17070;X55739;XM_005265647 AAC82978;AAH69554;AAH96194;AAH96195;AAH96196;AAH96197;AHG94922;CAA01728;CAA02017;CAA32017;CAA34916;CAA39270;EAX05601;EAX05602;NP_001882;P05814;XP_005265704 Hs.2242 1742205;2110337;2153600 CSN2_8285;GDB:193679;SHGC-59528 CASB OTTHUMP00000159775;beta-casein protein-coding ENSG00000135222 HGNC:2447 00281 115460 VALIDATED 1352235 CSNK1A1L casein kinase 1, alpha 1-like ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN cell morphogenesis (inferred); protein phosphorylation (inferred); Wnt signaling pathway (inferred); PARTICIPATES IN Hedgehog signaling pathway; Wnt signaling pathway; FOUND IN cytoplasm (inferred); ribonucleoprotein complex (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 13 13 13 q13.3 18744648 18747052 - 37677397 37679801 - 37103260 37105664 - 1580863;6480464;6907045 11708798;12477932;15489334;17620599;20360068;21890473;21906983;21988832;23362303;24332808 122011 Q8N752 ABBA01021341;AL391383;AMYH02027874;BC028723;CH471075;NM_145203 AAH28723;ABM82157;ABM85341;EAX08587;NP_660204;Q8N752 Hs.512897 2107969 CSNK1A1L_8134 CK1;MGC33182;RP11-532O21.2 CKI-alpha-like;OTTHUMP00000018267;casein kinase I alpha S-like;casein kinase I isoform alpha-like protein-coding ENSG00000180138 HGNC:20289 13095 VALIDATED 736167 CSNK1A1 casein kinase 1, alpha 1 ENCODES a protein that exhibits protein serine/threonine kinase activity; protein kinase activity (ortholog); INVOLVED IN protein phosphorylation; PARTICIPATES IN Hedgehog signaling pathway; p53 signaling pathway; Wnt signaling, non-canonical pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; membrane; mRNA cleavage and polyadenylation specificity factor complex; INTERACTS WITH (-)-demecolcine; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2,3,7,8-tetrachlorodibenzodioxine 5 5 5 q32 144956788 145012931 - 148873896 148931115 - 149495894 149551552 - 1580863;2293188;6480464;6484113;6907045;8554872 18432252 10413673;10617630;10777483;10930456;10961987;11278595;11500362;11583622;11779193;11875057;11884395;11955436;12000790;12062430;12210746;12477932;12820959;1409656;14558941;14574644;15003508;15131121;15327769;15489334;15557340;15635413;15687492;15761153;16024788;16061179;16344560;16371461;16511560;16565220;16616143;16753179;16880514;16943283;16959772;17110929;17192257;17318175;17626781;17979178;18067272;18246126;18305108;18411282;18590726;18669630;19050041;19118383;19185594;19244247;19322201;19426738;19531213;19576224;19738201;19759023;19797085;19805514;19875381;19913121;19946888;20348946;20360068;20551178;20628086;20647544;20696773;21139048;21179498;21382349;21642993;21890473;21906983;21925390;21963094;21985131;21988832;22017877;22350414;22505724;22623428;22824801;22916255;22939624;22939629;23000965;23028042;23148689;23455922;23580615;24244405;24250222;24332808;24797263;24816145;25124033;7559483;7622570;7797465;8050587;8253806;8404858;8972483;9045708;9109395;9360956;9391750;9630228;9765199;9771888 1452 B4DER9;D6REM4;D6RGE5;E5RG27;E7ETM0;H0Y9X2;P48729;Q6PJ06;U3KPX3;U3KQ83;U3KQK7 ABBA01026303;ABBA01026304;AC021078;AF119911;AF218004;AF447582;AK293761;AK294099;AK294942;AK303794;AL701526;AMYH02012444;AMYH02012445;AMYH02012446;AMYH02012447;BC005905;BC007246;BC008717;BC009186;BC020446;BC020745;BC021971;BC025371;BC040473;BC105984;BT019829;BT019830;BU618830;BX647478;BX648552;CH471062;CR542206;DA144898;DQ082865;EU668329;HY119498;L37042;NM_001025105;NM_001271741;NM_001271742;NM_001892;X80693 AAC41760;AAF69665;AAG17246;AAH07246;AAH08717;AAH21971;AAH25371;AAL60204;AAV38632;AAV38633;AAY84562;ACF94482;BAG57180;BAG57435;BAG58018;BAG64751;CAA56710;CAG47002;EAW61767;EAW61768;EAW61769;EAW61770;EAW61771;EAW61772;EAW61773;EAW61774;EAW61775;EAW61776;NP_001020276;NP_001258670;NP_001258671;NP_001883;P48729 Hs.529862;Hs.712555 1657579;1670291;1684981;1685660;1700550;1703252;1707468;1712575;1776389;1851081;2142912;2147071;2174184;2184939;5108022 A002I44;G16922;RH103896;RH18493;RH44394;RH66574;RH79736;RH91934;SGC32360;SHGC-56742;SHGC-84529;STS-N33567;WI-11865;WI-17561;X90945 CK1;CK1a;CK1alpha;CKIa;CKIalpha;HEL-S-77p;HLCDGP1;PRO2975 CKI-alpha;OTTHUMP00000224000;OTTHUMP00000224001;OTTHUMP00000224002;OTTHUMP00000224003;casein kinase I isoform alpha;clock regulator kinase;down-regulated in lung cancer;epididymis secretory sperm binding protein Li 77p protein-coding ENSG00000113712 HGNC:2451 02739 600505 VALIDATED 2306146 CSNK1A1P1 casein kinase 1, alpha 1 pseudogene 1 15 15 15 q14 13851349 13870756 - 37091301 37110707 - 36799100 36818506 - 12477932 161635 ABBA01038496;AC019016;AMYH02030200;BC028192;BC066972;BG723784;NR_027320 Hs.659822 1751897;1772473;1776389;2142912;2219132 A002I44;HH114__6715;RH44394;SGC38378;SHGC-105791 CSNK1A1P APPROVED pseudo HGNC:30446 VALIDATED 4888740 CSNK1A1P3 casein kinase 1, alpha 1 pseudogene 3 5 5 98169086 98169412 + 98833382 98833708 + 100526776 ABBA01069203;AC022121;AMYH02011845;NG_027923 pseudo HGNC:38669 INFERRED 4108843 CSNK1A1P2 casein kinase 1, alpha 1 pseudogene 2 11 11 11 q22.2 99839339 99840716 - 102677682 102679059 - 102806951 102808328 - 20031604 120321 ABBA01039931;AMYH02025488;AP000619;NG_001532;U78045 pseudo HGNC:30445 INFERRED 732829 CSNK1E casein kinase 1, epsilon The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014] 22 22 22 q13.1 22491424 22518819 - 38686697 38714089 - 38290691 38318084 - 1580863;2306813;6480464;6484113;6907045;8554872 14871824 10535959;10542239;10591208;10790862;10848614;10899319;11076968;11232563;11425858;11487578;11583622;11818547;11865049;11875063;11884395;12000790;12183362;12221128;12270714;12477932;12556519;12852856;14701732;14702039;14722104;15003508;15070676;15133026;15187983;15302935;15327768;15461802;15489334;15747065;15767683;15917222;16009131;16189514;16237383;16274701;16462731;16513652;16528748;16557393;16616143;16618118;16818876;17081983;17192257;17218255;17318175;17353931;17962809;17984998;18228528;18258753;18262492;18400165;18518925;18518968;18571740;18708403;18990770;18991847;19043076;19058789;19322201;19693801;19805222;19839995;19874574;19913121;19934327;20048001;20072116;20126544;20174623;20360068;20507565;20508983;20628086;20858893;20940130;21139048;21252624;21577200;21670201;21832049;21890473;21900206;21906983;21988832;22113361;22367616;22384121;22609948;22623531;22707389;22797925;22939629;22981886;23413191;23455922;24180524;24255178;24760862;24816145;25124033;7790358;7797465;8125298;9349507;9430669;9632646;9674431 1454 B0QY34;B0QY35;B0QY36;H0Y5S9;H0Y645;H0Y682;H7C0Y5;H7C3J2;P49674;Q5U045 AB024597;AB091043;ABBA01055510;ABBA01055511;ABBA01055512;AK223498;AL020993;AMYH02038355;AMYH02038356;BC006490;BC013088;BQ434269;BQ642398;BT019831;BU517079;CF594072;CH471095;CR456429;KF511463;L37043;NG_016707;NM_001894;NM_152221 AAC41761;AAH06490;AAV38634;ABM83538;ABM86778;BAA92345;BAC10902;BAD97218;CAG30315;CAK54421;CAK54720;EAW60228;EAW60230;EAW60232;EAW60233;EAW60234;NP_001885;NP_689407;P49674 Hs.474833 1670143;1797444;1856428;2118198;2123476 CSNK1E_2280;D22S1252;D22S1551;RH78405;STS-R89850 CKI-epsilon;CKIe;CKIepsilon;MGC10398 HCKIE;OTTHUMP00000199211;OTTHUMP00000199212;OTTHUMP00000199213;OTTHUMP00000199217;casein kinase I isoform epsilon APPROVED protein-coding ENSG00000213923 HGNC:2453 02919 600863 REVIEWED 733311 CSNK1D casein kinase 1, delta This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014] 17 17 17 q25 76796458 76825073 - 80197523 80231594 - 82239669 82273718 - 1580863;6480464;6484113;6907045;7240710;8699517;8554872 10500146;10606744;10617630;10826492;10852916;11076968;11161704;11165242;11218372;11278841;11818547;11865049;11955436;12000790;12181329;12221128;12270714;12270943;12477932;12852856;14761950;15003508;15070676;15489334;15800623;16027726;16189514;16462731;16618118;16870621;17081983;17101137;17131344;17192257;17353931;17562708;17601350;17962809;18228528;18246126;18708403;18729074;18977241;19139564;19805222;19839995;20048001;20149345;20508983;20637175;20708156;21139048;21422228;21832049;21890473;21900206;21906983;22052997;22123863;22384121;22405594;22711876;22939629;22948661;22976441;22981886;23000965;23455922;23636092;24318128;24657926;24816145;7665585;7790358;7797465;8786104;8972483;9349507;9558331;9632646;9761932;9990034 1453 B4DLF1;H0Y2N6;H7BYT1;J3KRM8;J3KRS6;J3QQI9;J3QQU8;J3QS70;P48730 AA825280;AB091044;AB209463;ABBA01019673;AC132872;AK128863;AK291758;AK295638;AK296969;AK303365;AK308852;AK311248;AMYH02034151;BC003558;BC015775;BC047000;CH471099;DC334821;EF015900;HY000691;NG_012828;NM_001893;NM_139062;NR_110578;U29171;U31285;XM_005256336;XM_005256337;XR_243518;XR_430027;XR_430028 AAC50807;AAC50808;AAH03558;AAH15775;ABM64211;ACE86920;ACE87607;BAC10903;BAD92700;BAF84447;BAG58511;BAG59513;BAG64423;EAW89758;EAW89759;EAW89760;EAW89761;EAW89762;NP_001884;NP_620693;P48730;XP_005256393;XP_005256394 Hs.631725 1671536;1730375;1849325;2110339;2124341;2145595;2153837;2160039;5094048 A005O08;CSNK1D_7771;D17S827E;G34940;RH11500;RH45324;RH70599;SHGC-31593;SHGC-64292 ASPS;CKI-delta;CKId;CKIdelta;FASPS2;HCKID casein kinase 1 delta;casein kinase I isoform delta;tau-protein kinase CSNK1D APPROVED protein-coding ENSG00000141551 HGNC:2452 02920 600864;604348;615224 REVIEWED 733469 CSNK1G1 casein kinase 1, gamma 1 This gene encodes a member of the casein kinase I gene family. The encoded protein is a serine/threonine kinase that phosphorylates acidic proteins, and participates in pathways for cell growth. [provided by RefSeq, Nov 2011] 15 15 15 q22.1-q22.31 41336661 41526451 - 64457716 64665968 - 64165517 64356243 - 1580863;1300048;2293188;6480464;6484113;6907045;8554872 18432252 11124537;11980723;12119564;12477932;14702039;14759258;15003508;15489334;16344560;18029348;18773076;19294699;21139048;21680713;21832049;21890473;21900206;21906983;21963094;23000965;24442433;24816145;8125298 53944 B7Z7D1;Q9HCP0;U3KQB3 AB042562;AB042563;ABBA01038892;ABBA01038893;ABBA01038894;ABBA01038895;ABBA01038896;ABBA01038897;ABBA01038898;AC087632;AC100840;AC110054;AF223357;AK023779;AK025179;AK026957;AK126968;AK225960;AL832551;AMYH02030596;AMYH02030597;AMYH02030598;AMYH02030599;AMYH02030600;AMYH02030601;AX239864;BC017236;BC062995;BC077731;BC130613;BC136504;CF593592;CH471082;DB094870;KF456070;KF456071;NM_022048 AAH17236;AAI30614;AAI36505;AAO12758;ADR83004;BAB15601;BAB17838;BAB17839;CAC88317;CAI46142;EAW77670;EAW77671;EAW77673;EAW77676;EAW77677;EAW77678;NP_071331;Q9HCP0 Hs.646508 1673972;1699700;2107971;2120683;2170270;2179915;2180999;5022578;5037552 CSNK1G1_8053;D15S1316;D1S1423;D8S2279;RH103455;RH77796;RH79030;SHGC-64305;WI-16082 CK1gamma1 CKI-gamma 1;OTTHUMP00000163976;casein kinase 1 gamma 1;casein kinase I isoform gamma-1 APPROVED protein-coding ENSG00000169118 HGNC:2454 606274 VALIDATED 734368 CSNK1G2 casein kinase 1, gamma 2 ENCODES a protein that exhibits ATP binding (inferred); glycoprotein binding (inferred); magnesium ion binding (inferred); INVOLVED IN protein autophosphorylation (inferred); protein phosphorylation (inferred); signal transduction (inferred); PARTICIPATES IN Hedgehog signaling pathway; p53 signaling pathway; FOUND IN cytoplasm; membrane; INTERACTS WITH 4-hydroxynon-2-enal; hydrogen peroxide; methylmercury chloride 19 19 19 p13.3 1875252 1915336 + 1941148 1981337 + 1941149 1981338 + 1580863;1300048;6480464;6484113;6907045 12062430;12477932;15003508;15057824;15077195;15300631;15342122;15489334;15917222;16189514;16618118;18029348;18794808;19005213;19946888;21139048;21832049;21890473;21900206;21963094;23000965;24250222;8619474;9006905;9110174;9403068 1455 K7EJC0;K7EP38;K7ESB6;P78368 AB451278;AB451410;ABBA01002695;ABBA01002696;ABBA01002697;ABBA01002698;AC005306;AC012615;AF001177;AMYH02035176;AMYH02035177;AMYH02035178;AY007134;BC018693;BC018699;BC020972;BT009922;CA423327;CH471139;CR994929;NM_001319;U89896;XM_005259498;XM_005259499;XM_005259500;XM_005259501;XM_005259502;XR_430129 AAB88627;AAC00212;AAC26983;AAG01997;AAH18693;AAH18699;AAH20972;AAP88924;ABM81621;ABM84806;BAG70092;BAG70224;EAW69426;EAW69427;EAW69428;EAW69429;EAW69430;EAW69431;NP_001310;P78368;XP_005259555;XP_005259556;XP_005259557;XP_005259558;XP_005259559 Hs.651905 1676282;2136290;2191671 MARC_4365-4366:996679577:1;RH48266;STS-U89896 CK1g2 CKI-gamma 2;casein kinase 1 gamma 2 isoform;casein kinase 1 isoform gamma-2;casein kinase I isoform gamma-2 protein-coding ENSG00000133275 HGNC:2455 03738 602214 VALIDATED 1345479 CSNK1G2-AS1 CSNK1G2 antisense RNA 1 19 19 19 p13.3 1886757 1888780 - 1952526 1954548 - 1952527 1954549 - 737633 12477932 10737800;15342556;15489334;16344560 255193 Q8NCQ2 ABBA01002696;AC012615;AMYH02035176;BC029585;BP368884;CH471139;CV378841;DB337348;HG510236;NR_033400 AAH29585;EAW69432;Q8NCQ2 Hs.374717 C19orf34;MGC39696 APPROVED ncrna ENSG00000180846 HGNC:28604 16630 VALIDATED 8548237 CSNK1G2P1 casein kinase 1, gamma 2 pseudogene 1 9 9 9 4966569 4967564 + 5040945 5041940 + 5040945 5041940 + 100419821 ABBA01065417;AL161450;AMYH02019082;NG_023867 pseudo HGNC:49739 INFERRED 731819 CSNK1G3 casein kinase 1, gamma 3 This gene encodes a member of a family of serine/threonine protein kinases that phosphorylate caseins and other acidic proteins. A related protein in the African clawed frog participates in the transmission of Wnt/beta-catenin signaling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 5 5 5 q23 118803181 118907853 + 122847793 122952739 + 123512099 123617045 + 1580863;1300048;6480464;6484113;6907045 11437445;12477932;15003508;15146197;15489334;16186692;16247451;16344560;16618118;18239272;19322201;19451621;20562859;21139048;21890473;21906983;21963094;23000965;23047923;24097068;24816145;7759525;9925945 1456 H0YBN6;Q9Y6M4 AA989359;ABBA01068936;ABBA01068937;ABBA01068938;ABBA01068939;ABBA01068940;AC008541;AC026422;AF049089;AF049090;AK289405;AK299739;AK316019;AMYH02012103;AMYH02012104;BC047567;BX116822;CH471086;CN286763;DA409424;NM_001031812;NM_001044723;NM_001270572;NM_001270573;NM_001270574;NM_004384;XM_005271891;XM_005271892;XM_005271893;XM_005271894;XM_005271895;XM_005271896 AAD26525;AAD26526;AAH47567;BAF82094;BAG61634;BAH14390;EAW48867;EAW48868;EAW48869;EAW48870;EAW48871;EAW48872;NP_001026982;NP_001038188;NP_001257501;NP_001257502;NP_001257503;NP_004375;Q9Y6M4;XP_005271948;XP_005271949;XP_005271950;XP_005271951;XP_005271952;XP_005271953 Hs.129206;Hs.741716 1665699;1689514;1752291;1785552;1852991;2110341;2114783;2143517;5491802 CSNK1G3;CSNK1G3_3957;D5S2575;D5S452E;RH36174;RH91986;SHGC-106208;SHGC-154893;STS-M78279 CKI-gamma 3;CSNK1G3L OTTHUMP00000159174;OTTHUMP00000159175;OTTHUMP00000223000;OTTHUMP00000223001;OTTHUMP00000223002;OTTHUMP00000227071;casein kinase 1 gamma 3 isoform;casein kinase I isoform gamma-3 APPROVED protein-coding ENSG00000151292 HGNC:2456 05034 604253 REVIEWED 733323 CSNK2A1 casein kinase 2, alpha 1 polypeptide Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. While this gene is found on chromosome 20, a related transcribed pseudogene is found on chromosome 11. Three transcript variants encoding two different proteins have been found for this gene. [provided by RefSeq, Jul 2014] 20 20 20 p13 558168 619315 - 463338 524482 - 473322 543838 - 6480464;6484113;6907045;8554872 10023679;10066810;10094392;10094407;10348343;10350657;10381337;10398585;10403822;10448092;10471512;10491172;10491318;10512750;10523317;10549869;10559254;10580090;10617630;10618498;10636877;10641798;10650937;10667577;10671552;10737800;10747897;10753899;10760275;10764593;10772927;10799509;10806215;10806407;10844023;10852916;10857748;10884347;10938077;10942766;10944435;10951572;10961987;10964683;10970045;10984616;10993892;10994779;11004567;11034995;11038365;11062072;11075956;11092945;11115400;11123317;11146653;11239457;11255227;11278496;11290787;11313925;11327722;11342557;11378439;11439109;11500362;11535131;11535139;11551505;11557039;11574463;11583622;11602581;11704824;11709713;11710515;11711551;11713579;11742978;11756447;11780052;11827164;11827166;11827167;11827168;11827170;11827171;11827172;11827174;11827176;11827177;11827178;11861906;11877451;11883897;11940573;11956194;11972058;11988074;11997511;12037680;12060753;12082111;12102635;12107178;12145206;12149649;12175859;12176973;12191471;12220519;12297295;12361709;12393879;12432063;12450396;12470599;12477932;12511551;12527891;12558502;12564933;12568341;12588975;12591939;12628923;12659875;12700239;12743374;12748192;12769847;12783858;12860116;12860119;12876286;12901717;12902976;12930845;12972610;1400350;1425701;14527415;14527438;14559993;14608369;14614449;14633983;14634006;14645218;14646071;14667819;14675149;14729942;14756785;14962846;14985113;14993654;15033366;15060571;15066279;15082798;15108354;1516134;1520270;15218032;15225637;15282296;15287743;15302935;15324660;15342635;15345747;15367657;15385968;1541298;15469824;15489334;15557471;15637053;15659405;15684395;15717329;15740749;1577469;15778465;15805470;15818404;15824109;15852347;15882073;15893730;15896722;15955816;16009940;16045761;16051665;16085715;16107342;16129408;16133877;16157582;16169070;16186248;16193064;16196087;16225457;16227438;16308564;16322471;16325853;16331323;16342410;16344560;16426576;16428860;16434389;16540521;16581776;16651637;16751801;16806200;16837460;16873060;16874460;16880508;16895915;16977309;17009010;17088250;17106255;17113388;17261582;17309103;17353931;17382325;17391060;1740119;17437719;17476305;17524418;17545155;17586316;17620599;17629615;17636126;1766873;17670747;17699575;17827154;17894550;17923166;17935135;17936701;18026141;18062282;18086883;18089732;18186541;18242640;1828073;18347021;18363813;18418079;18548200;18553055;18553059;18560763;18560764;18563533;18566753;18566754;18574673;18583988;18607692;18614797;18649047;18662771;18682247;18710613;18790693;18824508;1894695;18981174;19011756;19027835;19035320;19039329;19165527;19217413;19282287;19294699;19322201;19361447;19387550;19398558;19486891;19542537;19556345;19592636;19596613;19615732;19616514;19723109;19726289;19738201;19839995;19855935;1985907;19904978;19913121;19923321;19933278;19941816;19953087;20021963;20026644;20065034;20078884;20157113;20356928;20368287;20388487;20431927;20439735;2046671;20508983;20524034;20526659;20545769;20598904;20610541;20625391;20628086;20639865;20664522;20671611;20711232;20718998;20719947;20807566;20864032;21075308;21081666;21093442;21110914;21139048;21162802;21165564;2117608;21182307;21254166;21270425;21282530;21359197;21383183;21419342;21486957;21518957;21527517;21549307;21559372;21559479;21576649;21624135;21651489;21652635;21697493;21702981;21711111;21730285;21735091;21735095;21739153;21739154;2174700;21750986;21750987;21750988;21777522;21832049;21871133;21890473;21906983;2192260;21936567;21963094;21968188;21988832;22017874;22027148;22113938;22174317;22184066;22186626;22190719;22209233;22267120;22317921;22325352;22351691;22404984;22406621;22506723;22548824;22562247;22586326;22609407;22675025;2271631;22718630;22767590;22768056;22810236;22810585;22814265;22824801;22863883;22868753;22869522;22904299;22939629;22990118;23000965;23007634;23017496;23137536;23153582;23185622;23188828;23287549;23317504;23349870;23360763;23416530;23443559;23455922;23463506;23474121;23492774;23523798;23580615;23599180;23602568;23612983;23651443;23732914;23751493;23752268;23816881;23885116;24012109;24021586;24036851;24098452;24121351;24163370;24218616;24268649;24297901;24440309;24457600;24457960;24486797;24550385;24616922;24778252;24797263;24816145;2492519;2557337;2663470;2752008;2806554;2874131;2900140;2998765;3128543;3472906;7491787;7565749;7592773;7598724;7646439;7651819;7657714;7678037;7689229;7768894;7790358;7794916;7794926;7809103;7846527;7876254;7896000;7961967;7983041;8002936;8024572;8058322;8089108;8107101;8139011;8188256;8206911;8247525;8253806;8270625;8288648;8349691;8376365;8404858;8420794;8491187;8547318;8548340;8592152;8619999;8622692;8622969;8632909;8635594;8639568;8659106;8662759;8663258;8663267;8663403;8806671;8887627;8939955;8943850;8954982;8972483;9030586;9038206;9045708;9074495;9092824;9115440;9139659;9151826;9153193;9185604;9188720;9213219;9405642;9407077;9446557;9461343;9503018;9525959;9558331;9571630;9600099;9647734;9654140;9677319;9685505;9722526;9733784;9804834;9806882;9834084;9858576;9881639;9886053;9914500;9930733;9990034 1457 E7EU96;P68400;V9GY80;V9GYA2;V9GYW6 AB451279;AB451411;ABBA01053751;ABBA01053752;ABBA01053753;AF011920;AK302583;AK312535;AL049761;AMYH02036552;AMYH02036553;AMYH02036554;AMYH02036555;AU130091;AU131227;AU132198;AU133318;AW876962;AY735339;BC002615;BC011668;BC050036;BC053532;BC071167;BT019792;CH471133;DQ354583;J02853;M55265;NG_011970;NM_001895;NM_177559;NM_177560;S53149;X69951;XM_006723548 AAA35503;AAA56821;AAH11668;AAH50036;AAH53532;AAH71167;AAV38595;ABB72474;ABC86794;ABM84028;ABM87373;BAG35434;BAG63838;BAG70093;BAG70225;EAX10665;EAX10666;EAX10667;EAX10668;EAX10669;NP_001886;NP_808227;NP_808228;P68400;Q8NEV1;XP_006723611 Hs.644056 1663120;1696172;1712569;1742507;1790301;2121009;2138316;2180218;5016045 16.MMHAP54FLF1.seq;CSNK2A1;GDB:197832;RH70221;SHGC-79161;STS-M78020;STS-T29481;U51866;WI-16945 CK2A1;CKII;CSNK2A3 CK II alpha;CK II alpha 3;CK2 catalytic subunit alpha;OTTHUMP00000029925;OTTHUMP00000029926;casein kinase II alpha 1 polypeptide pseudogene;casein kinase II alpha 1 subunit;casein kinase II subunit alpha;casein kinase ii, alpha 1 polypeptide;protein kinase CK2 APPROVED protein-coding ENSG00000101266 HGNC:2457 00277 115440 REVIEWED 1315751 CSNK2A2 casein kinase 2, alpha prime polypeptide ENCODES a protein that exhibits protein N-terminus binding; INVOLVED IN mitotic spindle checkpoint; PARTICIPATES IN E-cadherin signaling pathway; nuclear factor kappa B signaling pathway; measles infection pathway; FOUND IN nucleus; PcG protein complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; 5-aza-2'-deoxycytidine 16 16 16 q21 42691263 42731230 - 58191811 58231782 - 58157907 58197878 - 1580863;6480464;6484113;6907045 10066810;10094392;10471512;10549869;10559254;10617630;10618498;10641798;10667577;10671552;10747897;10760275;10764593;10772927;10799509;10806215;10844023;10852916;10938077;10944435;10961987;10964683;10970045;10982400;10984616;10993892;10994779;11004567;11034995;11062072;11146653;11239457;11278496;11378439;11500362;11535139;11557039;11583622;11602581;11704824;11711551;11713579;11742978;11827166;11827170;11827172;11827177;11877451;11940573;11972058;11997511;12037680;12082111;12107178;12145206;12297295;12393879;12432063;12450396;12466282;12477932;12511551;12558502;12564933;12568341;12588975;12591939;12769847;12860119;12930845;1425701;14667819;14685260;14702039;14729942;1516134;1520270;15218032;15302935;15345747;15367657;1541298;15489334;15635413;15761153;16051665;16196087;16335532;17353931;1740119;17643375;1766873;17903308;18086883;18186541;19011756;19130553;19615732;1985907;19913121;20379614;20628086;20811636;21093442;21139048;21142136;21282530;21383183;21486957;21730285;21739153;2174700;21750982;21906983;21988832;22174317;22325352;22586326;22863883;22939629;23455922;23599180;23602568;23667531;24332808;24550385;24654937;24778252;24816145;2557337;2663470;2806554;2874131;2900140;2998765;3128543;7491787;7651819;7678037;7689229;7735329;7768894;7794916;7794926;7896000;7983041;8058322;8089108;8107101;8139011;8188223;8206911;8253806;8288648;8404858;8491187;8547318;8548340;8592152;8622969;8639568;8659106;8663258;8663267;8663403;8806671;8954982;9045708;9074495;9092824;9151826;9185604;9188720;9407077;9461343;9525959;9571630;9600099;9654140;9685505;9722526;9806882;9858576;9881639;9930733 1459 H3BNI9;H3BSA1;H3BV19;P19784 ABBA01025296;ABBA01025297;ABBA01025298;AC009107;AI150700;AK090752;AK125922;AMYH02032115;BC008812;CH471092;M55268;NM_001896;XM_005255799;XM_005255800;XM_005255801 AAA51548;AAH08812;ABM83951;ABM87268;EAW82969;NP_001887;P19784;XP_005255856;XP_005255857;XP_005255858 Hs.82201 1643750;1675664;1677072;2124262;2128951;2180702 D16S3204;D16S3208;D16S3223;RH36293;RH98766;SHGC-60810 CK2A2;CSNK2A1;FLJ43934 CK II alpha';OTTHUMP00000164724;casein kinase II subunit alpha' protein-coding ENSG00000070770 HGNC:2459 00279 115442 VALIDATED 1346188 CSNK2A3 casein kinase 2, alpha 3 polypeptide This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012] 11 11 11 p15.3 11499457 11501040 - 11373489 11374904 - 11351942 11353357 - 6480464 10094393;11092945;11181995;11239457;12102635;12393879;12860116;14522971;14646071;15489334;15684395;1577469;1610905;1766873;20625391;2174700;2752008;7942276;8420794 283106 Q8NEV1 ABBA01061148;AC023946;AMYH02024333;AY112721;CH471064;NM_001256686;X64692;X70251 CAA49758;EAW68546;NP_001243615 Hs.654675;Hs.741126 1663120;1712569;1742507;1790301;2121009 CSNK2A1;GDB:197832;STS-M78020;U51866;WI-16945 CSNK2A1P casein kinase 2, alpha 1 polypeptide pseudogene;casein kinase 2, alpha 1 polypeptide-like APPROVED protein-coding ENSG00000254598 HGNC:2458 VALIDATED 730838 CSPG4 chondroitin sulfate proteoglycan 4 A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008] 15 15 15 q24.2 52892353 52930874 - 75966663 76005189 - 75674322 75712848 - 734840;5686858;5686859;5686860;5686849;5686852;5686863;5686869;6480464;5686844;5686855;5686862;5686865;5686845;5686848;5686850;8554872 10976643;17565360;19473238;19604403;19739253;20151287;20162860;21575186;21679768;21864831;21951366;22042562;22078261;22243800;8562939 10587647;10967549;11278606;12220645;12458226;12477932;14573520;15009727;15181153;15210734;15231748;15342556;15504744;16169245;16253523;16335952;16365873;16407841;16455987;16625365;17268261;17591920;17592550;17851550;18292781;18469852;18519770;18634019;18767415;18829565;19204726;19462316;19581412;19776755;20379614;20448346;20455858;20805128;21070915;21092857;21123584;21139048;21658254;21798846;21963094;21987572;22004131;22021902;22699001;22939629;22999866;23000965;23359523;23474192;23559515;23804106;23925489;23953863;23995070;24177010;25016058;8790396;9013976;9488735 1464 Q6UVK1 ABBA01060538;AC105020;AMYH02030820;AY359468;BC033194;BC128110;BP363063;BQ679485;CA428796;CA438367;CB044012;CH471136;NM_001897;X96753 AAI28111;AAI72270;AAI72576;AAQ62842;CAA65529;EAW99239;EAW99240;NP_001888;Q6UVK1 Hs.513044 1689488 RH80434 HMW-MAA;MCSP;MCSPG;MEL-CSPG;MSK16;NG2 OTTHUMP00000183520;chondroitin sulfate proteoglycan 4 (melanoma-associated);chondroitin sulfate proteoglycan NG2;melanoma chondroitin sulfate proteoglycan;melanoma-associated chondroitin sulfate proteoglycan APPROVED protein-coding ENSG00000173546 HGNC:2466 03105 601172 REVIEWED 1347139 CSNK2B casein kinase 2, beta polypeptide This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] 6 6 6 p21.3 33231878 33236064 + 31632995 31637844 + 31665880 31670070 + 6480464;6484113;6907045 10094392;10094400;10214938;10327653;10381337;10398585;10403822;10491318;10506147;10512750;10549165;10549869;10641798;10679299;10747897;10764587;10799509;10931861;10944435;10951572;10964683;10984616;11062072;11092945;11239457;11298324;11378439;11396975;11485312;11535139;11546811;11574463;11583622;11709713;11710515;11713579;11827166;11827167;11827168;11827171;11827172;11827174;11827176;11827177;11827178;11861906;11883897;11940573;11972058;11984006;12037680;12102635;12145206;12220519;12393879;12432063;12470599;12477932;12511551;12527891;12591939;12628923;12748192;12804768;12901717;12902976;12954211;14559993;14574404;14634006;14645218;14656967;14667819;15218032;15225637;1541298;15485924;15489334;15893730;15940255;16159877;16225457;16713569;16806200;16895915;1694965;17038328;17081983;17092945;17353931;17391060;17643375;17681943;17709345;17912454;18062282;18086883;18186541;18276110;18451726;18469858;18508765;18553059;18560763;1856204;18583988;18587631;18824508;18835879;18839019;19011756;19039329;19056846;19091862;19233263;19294699;19324893;1939094;19542537;19592636;19615732;19616115;19738201;19759161;19808671;19851445;19851886;19913121;20044958;20372791;20576813;20628086;20719947;20797629;20811636;21068236;21078624;21139048;21142136;21282530;21486957;21507959;21514207;21515457;21675959;21730285;21750988;21755461;21890473;21900206;21944249;21963094;21968188;21988832;22174317;22325352;22505724;22562247;22623428;2276748;22810585;22863883;22939629;22990118;23000965;2300566;23076192;23383273;23402259;23455922;23521802;23580615;23599180;23602568;23751493;23752268;23816881;24216761;24457600;24654937;24816145;2513884;2666134;7491787;7578274;7689229;7768894;7794916;7838153;7942276;8089108;8107101;8139011;8349691;8548340;8659106;8806611;8806671;8812450;8943850;9013635;9042965;9092824;9151826;9185604;9188720;9299532;9478999;9503014;9571630;9654140;9677319;9685505;9738462;9881639 1460 N0E4C7;P67870;Q5SRQ3;Q5SRQ6 ABBA01038084;AF129756;AK300671;AK308742;AK310551;AK311860;AL662899;AL670886;AL805934;AMYH02013452;AY113186;BA000025;BC112017;BC112019;BQ643177;BX511262;CH471081;CR354443;CR541699;CR753842;CR759761;DB570461;DQ314868;HE864445;HE864446;HE864447;HE864453;HE864454;NM_001282385;NM_001320;X16312;X16937;X57152 AAD18081;AAI12018;AAI12020;AAM50092;ABC40727;BAB63386;BAG34801;BAG62356;CAA34379;CAA34811;CAA40442;CAG46500;CCI79682;CCI79683;CCI79684;CCI79690;CCI79691;EAX03472;EAX03473;EAX03474;EAX03475;NP_001269314;NP_001311;P67870 Hs.73527 1712122;1712306;1790303;2123770;2189381 CSNK2B;G54062;G54110;MARC_3347-3348:991937077:1;RH16232 CK II beta;CK2B;CK2N;CSK2B;G5A;MGC138222;MGC138224 CSNK2B-LY6G5B-532;CSNK2B-LY6G5B-560;Casein kinase II beta subunit;OTTHUMP00000029060;OTTHUMP00000029063;OTTHUMP00000029064;OTTHUMP00000029065;OTTHUMP00000060100;alternative name: G5a, phosvitin;casein kinase II b subunit splicing isoform 318;casein kinase II b subunit splicing isoform 660;casein kinase II b subunit splicing isoform 806;casein kinase II subunit beta;chimera CSNK2B-LY6G5B splicing isoform 532;chimera CSNK2B-LY6G5B splicing isoform 560;phosvitin APPROVED protein-coding ENSG00000204435 HGNC:2460 00278 115441 REVIEWED 7256941 CSPG4P10 chondroitin sulfate proteoglycan 4 pseudogene 10 15 15 q25.2 83128199 83138730 + 82459471 82470008 + 390627 AC010724;AC245033;NG_022135 pseudo HGNC:48361 INFERRED 7243276 CSPG4P11 chondroitin sulfate proteoglycan 4 pseudogene 11 15 15 84855507 84860930 + 84186755 84192178 + 100631254 AC136698;AMYH02030945;NG_029302 pseudo HGNC:48363 INFERRED 7256494 CSPG4P12 chondroitin sulfate proteoglycan 4 pseudogene 12 15 15 q25.3 85734643 85744904 + 85191412 85201673 + 728121 ABBA01052956;AC044860;AMYH02030962;NG_022136 pseudo HGNC:48362 INFERRED 7367149 CSPG4P13 chondroitin sulfate proteoglycan 4 pseudogene 13 15 15 15 55106617 55133155 + 78170980 78197011 + 77878638 77904669 + 100302666 ABBA01060575;AC104758;AMYH02030856;NG_012725 pseudo HGNC:49195 INFERRED 1351467 CSPG4P1Y chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.23 10499937 10503734 - 27629055 27632852 + 25482908 25486705 + 12815422 114758 Q96RM9 AC006328;AF332228;NG_004755;NR_001554 Hs.514045 2188799;2188803;2188815;2188817;5107359;5107385 G65863;G66497;G66499;G66500;G66507;G66509 CSPG4LY;CSPG4LYP1;CSPG4P1;CSPG4PY1 chondroitin sulfate proteoglycan 4-like, y-linked APPROVED pseudo ENSG00000240450 HGNC:16478 400034 VALIDATED 3207432 CSPG4P3Y chondroitin sulfate proteoglycan 4 pseudogene 3, Y-linked Y Y Y q11.23 10504035 10505346 - 26333679 26334990 - 24187532 24188843 - 100287261 ABBA01030397;AC023274;NG_022958 2188799;2188807;2188815;2188857 G65864;G66497;G66503;G66507 CSPG4P3;CSPG4P6Y pseudo HGNC:38111 INFERRED 3129515 CSPG4P4Y chondroitin sulfate proteoglycan 4 pseudogene 4, Y-linked Y Y Y q11.23 10504035 10505346 - 27627443 27628754 + 25481296 25482607 + 100287502 AC006328;NG_022953 2188799;2188807;2188815;2188857 G65864;G66497;G66503;G66507 CSPG4P4;CSPG4P7Y pseudo HGNC:38535 INFERRED 1606764 CSPG4P2Y chondroitin sulfate proteoglycan 4 pseudogene 2, Y-linked There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. This gene is identical to the transcribed locus CSPG4P1Y, GeneID 114758, but is represented as non-transcribed because there is no representative transcript available in a public sequence database. [provided by RefSeq, Feb 2011] Y Y Y q11.23 10499937 10503734 - 26329580 26333377 - 24183433 24187230 - 12815422 84664 AC023274;NG_004755 2188799;2188803;2188815;2188817 G66497;G66499;G66507;G66509 CSPG4LYP2;CSPG4P2;CSPG4PY2 APPROVED pseudo HGNC:32424 REVIEWED 1605891 CSPG4P5 chondroitin sulfate proteoglycan 4 pseudogene 5 15 15 15 q25.2 59705890 59712721 + 84953013 84966398 - 84398315 84411700 - 6480464 11572484 114817 Q96PW8 AB067507;ABBA01029456;AC136704;AC243562;AMYH02030947;AMYH02030948;NG_006511 BAB67813;Q96PW8 Hs.513096 5107357;5107361;5120415 G66495;G66502;GDB:315469 KIAA1920 APPROVED pseudo HGNC:29403 17231 INFERRED 4105744 CSPG4P6Y chondroitin sulfate proteoglycan 4 pseudogene 6, Y-linked Y q11.23 26335448 26337976 - 100287758 AC023274;XM_002344203 XP_002344244 2188793 G66492 protein-coding HGNC:38611 MODEL 4105740 CSPG4P7Y chondroitin sulfate proteoglycan 4 pseudogene 7, Y-linked Y q11.23 27624457 27626985 + 100287819 AC006328;XM_002344204 XP_002344245 2188793 G66492 protein-coding HGNC:38612 MODEL 7243510 CSPG4P8 chondroitin sulfate proteoglycan 4 pseudogene 8 15 q25.2 82753447 82769399 + 14702039;16751776 440297 AC135995;AK125436;NR_033579 BAC86164;Q6ZUQ5 Hs.498322 pseudo HGNC:48359 VALIDATED 7257357 CSPG4P9 chondroitin sulfate proteoglycan 4 pseudogene 9 15 q25.2 82976544 82991960 - 9847074 642288 AC011295;NG_012729 pseudo HGNC:48360 INFERRED 733098 CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C) The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 3 3 3 p21.3 47545497 47562148 - 47603728 47621730 - 47562238 47580240 - 1580863;6480464;8554872 11076863;12477932;12885772;15358134;16299773;16901907;19367581;8889548;9950058 10675 B7Z2E0;O95196 ABBA01024686;AC099778;AC112512;AF059274;AF461087;AF461088;AF461089;AI368601;AI989800;AK294621;AMYH02006695;AMYH02006696;AW003890;BC041406;BM674119;BU732090;CH471055;DB636494;NG_029493;NM_001206942;NM_001206943;NM_001206944;NM_001206945;NM_006574 AAC69612;AAI11584;AAQ04774;AAQ04775;AAQ04776;BAH11826;EAW64829;EAW64830;NP_001193871;NP_001193872;NP_001193873;NP_001193874;NP_006565;O95196 Hs.45127 2108741;2112624;2161701 CSPG5_9165;D3S4374;WI-18411 MGC44034;NGC OTTHUMP00000164796;OTTHUMP00000164797;OTTHUMP00000210429;acidic leucine-rich EGF-like domain-containing brain protein;chondroitin sulfate proteoglycan 5;neuroglycan C APPROVED protein-coding ENSG00000114646 HGNC:2467 606775 REVIEWED 1605630 CSPP1 centrosome and spindle pole associated protein 1 This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014] 8 8 8 q13.2 63969919 64102249 + 67976588 68108849 + 67055392 67196614 + 6480464;8699517;7240710;8554872 12477932;14702039;15580290;16344560;16826565;18187620;19129481;20519441;21906983;21963094;24255178;24360803;24360807;24360808 79848 E5RGA5;E5RI67;F2Z2M5;Q1MSJ5;Q9H688 ABBA01041888;ABBA01041889;ABBA01041890;ABBA01041891;ABBA01041892;ABBA01041893;ABBA01041894;AC087359;AC109335;AJ583433;AK026143;AK096205;AK127108;AK308372;AM156947;AMYH02018121;AMYH02018122;AMYH02018123;AMYH02018124;AMYH02018125;AMYH02018126;BC022867;BC029445;BX649147;CA447290;CH471068;DA245734;DB030075;NG_034100;NM_001291339;NM_024790;XM_005251305;XM_005251306;XM_005251307;XM_005251311;XM_006716469;XM_006716470;XM_006716471;XM_006716472;XM_006716473;XM_006716474;XM_006716475;XM_006716476;XM_006716477;XM_006716478;XM_006716479;XM_006716480 AAH22867;AAI48418;AAI52994;BAB15375;CAE47426;CAJ42307;EAW86932;EAW86933;EAW86934;NP_001278268;NP_079066;Q1MSJ5;XP_005251362;XP_005251363;XP_005251364;XP_005251368;XP_006716532;XP_006716533;XP_006716534;XP_006716535;XP_006716536;XP_006716537;XP_006716538;XP_006716539;XP_006716540;XP_006716541;XP_006716542;XP_006716543 Hs.370147 1653827;1735798;1772985;2148790;2163846 D8S1409E;RH11702;RH46944;SHGC-36348;SHGC-37325 CSPP;FLJ22490;FLJ38886;JBTS21 OTTHUMP00000226978;OTTHUMP00000226981;centrosome and spindle pole-associated protein 1;centrosome spindle pole associated protein APPROVED protein-coding ENSG00000104218 HGNC:26193 07991 611654;615636 REVIEWED 1318958 CSRNP2 cysteine-serine-rich nuclear protein 2 The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] 12 12 12 q13.11-q13.12 50256977 50278325 - 51454988 51477454 - 51061205 51083671 - 6480464;8554872 12477932;15231748;15489334;16344560;17726538;19389623;20800603;8619474;8889548;9110174 81566 F8VTU0;F8VVN1;F8VZY2;F8W1G8;Q9H175 AB063302;ABBA01031595;ABBA01031596;ABBA01031597;AC087884;AF052105;AJ298133;AK098442;AK313080;AMYH02026478;AMYH02026479;BC017221;BM975428;CH471111;DB059091;DB460042;KF455649;NM_030809;NR_045072;XM_006719621;XM_006719622 AAH17221;BAB79451;BAG35906;CAC22252;EAW58173;NP_110436;Q9H175;XP_006719684;XP_006719685 Hs.524425 1739983;2118435;2136013;2168899;5092856 A004B24;A009B06;D12S1401;D12S1568;G32373 C12orf2;C12orf22;FAM130A1;FLJ25576;PPP1R72;TAIP-12 CSRNP-2;OTTHUMP00000241593;TGF-beta-induced apoptosis protein 12;chromosome 12 open reading frame 22;cysteine/serine-rich nuclear protein 2;family with sequence similarity 130, member A1;protein phosphatase 1, regulatory subunit 72 APPROVED protein-coding ENSG00000110925 HGNC:16006 12608 REVIEWED 1605039 CSRNP3 cysteine-serine-rich nuclear protein 3 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (ortholog); INVOLVED IN negative regulation of phosphatase activity; positive regulation of apoptotic process (ortholog); positive regulation of transcription from RNA polymerase II promoter (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH all-trans-retinoic acid; copper atom; copper(0) 2 2 2 q24.3 159936725 160155865 + 166326157 166545917 + 165469647 165689407 + 6480464;8554872 14702039;15815621;16344560;17726538;18029348;19389623;19401682;20468071 80034 B8ZZD9;E7EN18;J3KQ49;Q8WYN3 AB063300;ABBA01004918;ABBA01004919;ABBA01004920;ABBA01004921;AC019140;AC108031;AK021765;AK055302;AK056655;AK096497;AK126129;AL049256;AMYH02005132;AMYH02005133;AMYH02005134;AMYH02005135;AMYH02005136;CH471058;DA500249;NM_001172173;NM_024969;XM_005246865 AAY24139;BAB13890;BAB79449;BAC86454;BAG51776;EAX11326;NP_001165644;NP_079245;Q8WYN3;XP_005246922 Hs.470479 1660556;1671293;1704712;1719733;1734932;1766009;2107653;2145025;2172367 A008B46;D2S1696E;RH123556;RH46251;SHGC-149401;SHGC-31840;SHGC-36838;SHGC-79015;TAIP-2__5189 FAM130A2;FLJ11703;FLJ32093;FLJ44141;PPP1R73;TAIP-2;TAIP2 CSRNP-3;OTTHUMP00000163014;OTTHUMP00000204920;OTTHUMP00000204921;OTTHUMP00000204922;TGF beta induced apotosis protein 2;TGF-beta induced apoptosis protein 2;TGF-beta-induced apoptosis protein 2;cysteine/serine-rich nuclear protein 3;family with sequence similarity 130, member A2;protein phosphatase 1, regulatory subunit 73 protein-coding ENSG00000178662 HGNC:30729 18144 VALIDATED 1314362 CSRNP1 cysteine-serine-rich nuclear protein 1 This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. [provided by RefSeq, Jul 2008] 3 3 3 p22 39123855 39135613 - 39183342 39196093 - 39141851 39154602 - 1580863;6480464;8554872 11526492;12477932;15489334;17726538;18029348;19322201;21382349;22321011;23080069;23292452 64651 Q96S65 AB053121;AB063301;ABBA01024812;AC092053;AL117565;AMYH02006580;AX287037;BC028213;BC038949;BG536908;CH471055;NM_033027;XM_005265403 AAH28213;AAH38949;BAB61065;BAB79450;CAD12290;CAH10719;EAW64565;EAW64566;EAW64567;EAW64568;EAW64569;EAW64570;NP_149016;Q96S65;XP_005265460 Hs.370950 1334991;1664910;1680030;1855244;2107873;2111412 AXUD1_8084;D3S3517;D3S3605;D3S3824;RH80080;SHGC-76832 AXUD1;CSRNP-1;DKFZp566F164;FAM130B;TAIP-3;URAX1 AXIN1 up-regulated 1;OTTHUMP00000161967;OTTHUMP00000208991;TGF-beta induced apoptosis protein 3;TGF-beta-induced apoptosis protein 3;axin-1 up-regulated gene 1 protein;cysteine/serine-rich nuclear protein 1 APPROVED protein-coding ENSG00000144655 HGNC:14300 07347 606458 REVIEWED 1352848 CSRP2 cysteine and glycine-rich protein 2 CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 12 12 12 q21.1 76918012 76938313 - 77252495 77272814 - 76858715 76879043 - 1580863;6480464 10924333;11672422;12477932;12496489;12861049;15489334;21139048;21890473;22939629;22990118;23000965;24457600;7499425;8626582;8824798;9286703 1466 F8VQR7;F8VW96;Q16527 ABBA01053537;AC124784;AMYH02026790;AMYH02026791;AY349166;BC000992;BT019913;BX461295;CH471054;CN408330;NM_001300965;NM_001321;U46006;U57646;U95018;XM_005268678;XM_006719258;XM_006719259 AAC27344;AAC51753;AAC51755;AAH00992;AAV38716;ABM81901;ABM85075;EAW97336;EAW97337;NP_001287894;NP_001312;Q16527;XP_005268735;XP_006719321;XP_006719322 Hs.530904 1338208;1645107;2128754;5113846 D12S1684;D12S2101;D3S4161;RH70679 CRP2;LMO-5;LMO5;SmLIM LIM domain only 5, smooth muscle;LIM domain only protein 5;OTTHUMP00000242476;OTTHUMP00000242477;OTTHUMP00000242478;OTTHUMP00000242479;cysteine-rich protein 2;smooth muscle cell LIM protein APPROVED protein-coding ENSG00000175183 HGNC:2470 03523 601871 REVIEWED 737489 CSRP1 cysteine and glycine-rich protein 1 This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010] 1 1 1 q32 174576528 174600256 - 201452658 201476387 - 201483530 201507259 - 1580863;6480464 10926853;11790298;12477932;12539241;1374386;1385304;14702039;15489334;16344560;16964243;17081983;17341888;17486081;19056867;20029029;20379614;20415737;21139048;2115670;21706016;21832049;21882188;21906983;22360420;22863883;23000965;23824909;24457600;7938009;9507743;9925910 1465 B3KVC9;B4DY28;B4E2T4;E9PND2;E9PP21;E9PS42;P21291 AB209756;ABBA01027532;AC096677;AK057876;AK122812;AK126445;AK126507;AK131508;AK290133;AK293053;AK302237;AK304415;AMYH02002477;AW163500;BC004265;BC007492;BC018806;BC032493;BT019520;BX537488;BX641046;CA411857;CF453919;CH471067;CR627407;DA163062;DA930181;DB019080;EU668320;JB776326;M33146;M76378;NM_001193570;NM_001193571;NM_001193572;NM_004078 AAA35720;AAA58431;AAH04265;AAH32493;AAV38327;ACF94473;BAD18652;BAD92993;BAF82822;BAF85742;BAG53741;BAG63590;BAG65246;CAH10496;CAH10559;CDI44529;EAW91370;EAW91371;NP_001180499;NP_001180500;NP_001180501;NP_004069;P21291 Hs.108080 1656931;1765545;2125906;2156092;5024413 D1S3212;L17877;RH69122;SHGC-149015;SHGC-30236 CRP;CRP1;CSRP;CYRP;D1S181E;DKFZp686M148;HEL-141 LIM-domain protein;OTTHUMP00000033921;OTTHUMP00000228678;OTTHUMP00000228679;OTTHUMP00000228680;OTTHUMP00000228681;cysteine-rich protein 1;epididymis luminal protein 141 APPROVED protein-coding ENSG00000159176 HGNC:2469 00470 123876 REVIEWED 1342895 CSRP2P cysteine and glycine-rich protein 2 pseudogene 3 3 3 q13.33 117658233 117658931 - 119249679 119250458 - 119530832 119531611 - 7499425;8361751;9286703 1467 ABBA01061582;AC073352;AMYH02007501;NG_000852;U72535 1645107 D3S4161 pseudo HGNC:2471 INFERRED 1319928 CSRP2BP CSRP2 binding protein CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011] 20 20 20 p11.23 18197589 18243750 + 18122868 18169031 + 18142224 18188387 + 1580863;6480464;8554872 10924333;11780052;12477932;12975309;14702039;15489334;16189514;16344560;18838386;19060904;19103755;21079607;21145461;21531708;21693764 57325 D6RAU4;Q9H8E8 ABBA01054043;ABBA01054044;AF086492;AF252257;AI199208;AK023634;AK023759;AK297597;AL050321;AMYH02036776;AU140233;BC007537;BC009174;BM552422;BQ691686;CA443252;CH471133;KF459584;NM_020536;NR_028402 AAG10249;AAH07537;AAH09174;ABM84436;ABM87506;BAB14669;BAG59982;EAX10254;EAX10255;EAX10256;NP_065397;Q9H8E8 Hs.488051;Hs.728790 1647498;1653487;1666274;1670553;1847749;1875996;2122870;2129581 D20S1050;D20S955;REN8680;RH16042;RH46181;SHGC-53793;STS-N40959;Z94381 ATAC2;CRP2BP;KAT14;MGC15388;PRO1194;dJ717M23.1 ADA2A-containing complex subunit 2;ATAC component 2 homolog;CRP2 binding partner;CRP2 binding protein;CRP2-binding partner;CSRP2-binding protein;OTTHUMP00000030351;OTTHUMP00000162798;OTTHUMP00000221577;cysteine rich protein 2 binding protein;cysteine-rich protein 2-binding protein APPROVED protein-coding ENSG00000149474 HGNC:15904 16765 REVIEWED 1352376 CST1 cystatin SN The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23801466 23804850 - 23728190 23731574 - 23747553 23750937 - 1580863;6480464 11780052;11788998;11879580;12477932;1471486;15340161;15489334;15829315;1778989;1898352;19343046;19463800;19513549;19587831;21636832;23950865;2837486;3202964;3446578;3514272;7690606;7896273;8179826;8708950;9007972 1469 P01037 ABBA01017987;AL591074;AMYH02036839;BC021225;CH471133;J03870;M19169;NM_001898 AAA36115;AAA60299;AAH21225;EAX10134;NP_001889;P01037 Hs.123114 1694482 G42975 OTTHUMP00000030444;OTTHUMP00000164184;cystain-SA-I;cystatin 1;cystatin SA-I;cystatin-1;cystatin-SN;cysteine proteinase inhibitor, type 2 family;salivary cystatin-SA-1 APPROVED protein-coding ENSG00000170373 HGNC:2473 00460 123855 REVIEWED 1352205 CST10 cystatin 10 (chondrocytes) 79553 AB036743 HGNC:14858 735574 CST11 cystatin 11 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes an epididymal-specific protein shown to have antimicrobial activity against E. coli. Alternative splicing yields two variants encoding distinct isoforms. [provided by RefSeq, Sep 2014] 20 20 20 p11.21 23504421 23506862 - 23431041 23433482 - 23450404 23452845 - 1580863;6480464 11780052;12072414;12477932;15489334;19081178;20565543;3202964;7690606;7896273;8179826;9007972 140880 Q9H112 ABBA01016177;AF335480;AF335481;AL096677;AMYH02036837;BC121079;BC121080;CH471133;NM_080830;NM_130794 AAI21080;AAI21081;AAL71991;AAL71992;EAX10146;EAX10147;NP_543020;NP_570612;Q9H112 Hs.128100 1699804 RH103509 CST8L;CTES2;SC13;dJ322G13.6 OTTHUMP00000030421;OTTHUMP00000030422;SC13delta;cystatin-11;cystatin-related epididymal-specific protein APPROVED protein-coding ENSG00000125831 HGNC:15959 16767 609731 REVIEWED 733068 CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p15.1 19336055 19356021 - 19203577 19232118 - 19182030 19210571 - 1598499;734841;1598503;704404;1580863;6480464;7240710;8554872;8699517 11113014;12507422;12642359 10751147;12127981;12477932;12878195;15489334;15582318;17519359;18250163;18331358;18393774;18505755;18513529;19035361;19230835;19293840;19351738;19412328;19636821;19752190;19875404;19913121;20044516;20201937;20301486;20301725;20474083;20628086;22584587;24860983;24934443;25015289;7490106;7499425;7954791;8782062;9234731 8048 A2TDB8;P50461 AA192614;ABBA01061038;AC009652;AF121260;AI184002;AJ711422;AK313289;AMYH02024404;AX207868;BC005900;BC024010;BC057221;BF671742;CH471064;EF179182;JN898958;NG_011932;NM_003476;U20324;U49837;U72894;U72895;U72896;U72897;U72898;U72899;XM_006718339 AAA91104;AAA92571;AAD00183;AAD00189;AAF28868;AAH05900;AAH24010;AAH57221;ABM84051;ABM87401;ABN05285;AFH66949;BAG36097;CAC60376;EAW68355;EAW68356;NP_003467;P50461;XP_006718402 Hs.83577 1689751;2107975;2133542;2138828;2140822 CSRP3_8775;D11S4012;RH41836;RH70653;RH91852 CLP;CMD1M;CMH12;CRP3;LMO4;MGC14488;MGC61993;MLP LIM domain only 4;LIM domain protein, cardiac;OTTHUMP00000235874;cardiac LIM domain protein;cysteine and glycine-rich protein 3;cysteine-rich protein 3;muscle LIM protein;muscle lim protein isoform APPROVED protein-coding ENSG00000129170 HGNC:2472 07525 600824;607482;612124 REVIEWED 1354411 CST2 cystatin SA The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted thiol protease inhibitor found at high levels in saliva, tears and seminal plasma. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23877786 23880694 - 23804404 23807312 - 23823767 23826675 - 1580863;6480464 11276250;11780052;11879580;12013824;12413693;12477932;1352269;1471486;15274116;15340161;15489334;15829315;17207965;1778989;1898352;19851296;20198315;21832049;21846728;23122533;2363674;2541223;2764935;3202964;3436950;3446578;3495457;6283552;6365094;6662498;7690606;7896273;8179826;9007972 1470 P09228 ABBA01012359;AF319564;AL591074;AMYH02036839;BC062679;CH471133;M19671;M19672;M19673;NM_001322 AAA36116;AAH62679;AAK11570;ADQ32080;EAX10133;NP_001313;P09228 Hs.669305 2116611 RH71431 MGC71924 OTTHUMP00000030445;cystatin 2;cystatin S5;cystatin-2;cystatin-S5;cystatin-SA;cysteine-proteinase inhibitor;salivary cysteine (thiol) protease inhibitor APPROVED protein-coding ENSG00000170369 HGNC:2474 00461 123856 REVIEWED 7243135 CST2P1 cystatin SA pseudogene 1 20 20 p11.21 23691695 23692036 - 23711058 23711399 - 101410546 ABBA01018718;AL591074;AMYH02036839;NG_033231 pseudo ENSG00000232595 HGNC:45042 INFERRED 6893108 CST13P cystatin 13, pseudogene INTERACTS WITH titanium dioxide (ortholog) 20 20 20 p11.21 23573189 23596018 + 23499783 23522655 + 23519146 23542018 + 6480464 12477932;20565543 164380 ABBA01016177;AL109954;AL121894;AMYH02036837;BC024006;BC028368;BC033934;BC041171;BC053680;CH471133;FJ895881;NR_001279 EAX10141 Hs.400007 CSTT;CTES6 pseudo ENSG00000204663 HGNC:44335 VALIDATED 736914 CST3 cystatin C The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Dec 2013] 20 20 20 p11.21 23687561 23691841 - 23608534 23618685 - 23627897 23638048 - 1580863;2314295;2314304;2314305;2314309;2314320;2314328;2314332;2314333;2314352;2301196;2314350;2314311;2314346;2314308;2314349;2314354;2314297;5686394;5686395;6480464;5686392;2306495;7240710;2306498;8554872;8699517 11134381;12589965;17027151;17086443;17983622;18197549;18261165;18374694;18635848;18723004;18824671;18940290;18946178;19132849;19291539;19539088;19596469;19741512;19761940;19765773;19887833;3517880 10428479;10545518;10993992;11074789;11115496;11276250;11468325;11681790;11711204;11750287;11780052;11815350;11865157;12038606;12101112;12477932;12479412;12483523;12663624;12670666;12738401;12758063;12787072;12938144;1352269;14503883;14672279;14714581;14726415;15013312;15034766;15037657;15086483;15122877;15127951;15174051;15212828;15223845;15336605;15340161;15350470;15479453;15489334;15603510;15719405;15728313;15829557;15832773;15860739;15882666;16005452;16049933;16131730;16170782;16188386;16213753;16386559;16437581;16443201;16446102;16481598;16502470;16608402;16612982;16612983;16640527;16713569;16838182;16979980;17130480;17192785;17210589;17310123;1731767;17353786;17394021;17470433;17537416;17552057;17636214;17660266;17668246;17718592;17728092;17822797;17826782;17852800;17852801;17901710;17903292;17947596;17963746;17998865;18026100;18026102;18044340;18089366;18187137;18216060;18280806;18307033;18314113;18317874;18319326;18356552;18373213;18376131;18408364;18418694;18454664;18461289;18496846;18508448;18511756;18566660;18594189;18613859;18667743;18674527;18703370;18713542;18804033;18815241;18830724;18949742;18953178;19056867;19119287;19137579;19151417;19252175;19293566;19357259;19359536;19394726;19403428;19419268;19436062;19446036;19517296;19523634;19585181;19597297;19597298;19601795;19636441;19674067;19774637;19808324;19816197;19819453;19861863;19915865;19929276;19938052;1996959;20052346;20132026;2013314;20157249;20175878;20353367;20383146;20399428;20413850;20447660;20450259;20468060;20482807;20489688;20502295;20534741;20538834;20574650;20576828;20692472;20699092;20802417;20806899;20809110;20849835;20858959;20879967;20880607;20882990;20885369;20921817;20923994;20926009;20980977;21051748;21069389;21094842;21112096;21115625;21143385;21151566;21187262;21198422;21274315;21286018;21315176;21388623;21415918;21470355;21494031;21518160;21577020;21617716;21619490;21697790;21700821;21710343;21723753;21740322;21757984;21782177;21784814;21795086;21852668;21861242;21927796;21928225;22008011;22057131;22057374;22072023;22117908;22139178;22207347;22209964;22228436;22267378;22278599;22287159;22305809;22307441;22315498;22315970;22322818;22349874;22373662;22380485;22426688;22467317;22474211;22515481;22547045;22622496;22626587;22663994;22669102;22674847;22705926;22710694;22809763;22818840;22837540;22844527;22884092;22898924;22899766;22947524;22978689;23000961;23008697;23026591;23026592;2304899;23070277;23089714;23093662;23095576;23111743;23142864;23179198;23194995;23258794;23300153;23306163;23335043;23347458;23383156;23392363;23396290;23414098;23414447;23423253;23429977;23479071;23518194;23519666;23530579;23574755;23580616;23594833;23629649;23629651;2363674;23684135;23698027;23698074;23701892;23706287;23835667;23836469;23849305;23852792;23893055;23912790;23932088;23945244;24028541;24202134;24295505;24365793;24384771;24409073;24421217;24470529;24492354;24500719;24790080;24821156;2541223;2567273;2689007;2764935;2900981;3488317;3495457;6203523;6283552;6365094;6662498;7890620;8083219;8179826;8486384 1471 P01034 AB587083;ABBA01016179;ABBA01016180;AK312213;AL121894;AMYH02036839;BC013083;BC110305;BF509512;BT006839;BX647523;CH471133;CR541988;CR542018;CS208043;HB867228;HY042866;M27891;NG_012887;NM_000099;NM_001288614;X05607;X52255;X61681;X61682 AAA52164;AAH13083;AAI10306;AAP35485;ABM82365;ABW03385;BAG35146;BAJ83816;CAA29096;CAA36497;CAA43856;CAG46785;CAG46815;CAJ44947;CBF57600;EAX10137;EAX10138;NP_000090;NP_001275543;P01034 Hs.304682 1657205;1742323;1768729;2114014;2117064 CST3;GDB:196339;SHGC-11944;SHGC-5971;STS-AA037016 ARMD11;MGC117328 OTTHUMP00000030440;OTTHUMP00000164181;OTTHUMP00000164182;bA218C14.4 (cystatin C);cystatin 3;cystatin C (amyloid angiopathy and cerebral hemorrhage);cystatin-3;cystatin-C;gamma-trace;neuroendocrine basic polypeptide;post-gamma-globulin APPROVED protein-coding ENSG00000101439 HGNC:2475 05056 105150;604312;611953 REVIEWED 1345836 CST4 cystatin S The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23739545 23742930 - 23666277 23669662 - 23685640 23689025 - 1580863;6480464 10483070;11780052;11879580;12477932;1334620;1471486;15489334;17207965;1741693;1747107;1778989;1801729;1898055;1898352;19199708;1939105;20383146;21139048;3202964;3488317;3496880;6394600;6501254;7690606;7896273;8179826;8636877;9007972 1472 P01036 ABBA01018717;AF319565;AL359433;AMYH02036839;BC065714;BC074952;BC074953;CH471133;NM_001899;S51222;X54667 AAB24493;AAH65714;AAH74952;AAH74953;AAK11571;ADQ32068;CAA38478;EAX10135;NP_001890;P01036 Hs.654549 1694482;2107011;2116611 CST4_7775;G42975;RH71431 MGC71923 OTTHUMP00000030443;cystatin 4;cystatin-4;cystatin-S;cystatin-SA-III;salivary acidic protein 1 APPROVED protein-coding ENSG00000101441 HGNC:2476 00462 123857 REVIEWED 1352727 CST6 cystatin E/M The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008] 11 11 11 q13 63104649 63105332 + 65779462 65780976 + 66011991 66013505 + 1580863;6480464 11348457;12477932;12839564;14676833;15466187;15489334;16356477;16565075;16912163;17043665;17099723;17540367;18506750;18607344;18676742;18754876;19005484;19074894;19262604;19503093;19551853;20074384;2029847;21092257;21900206;22688893;22902879;23006792;23088560;23537643;3202964;8179826;8995380;9007972;9099741;9154125 1474 Q15828;Q6IBD2 AA778147;ABBA01024093;ABBA01024094;AI127639;AMYH02024967;AMYH02024968;AP006287;AY145051;BC031334;CH471076;CR456872;CS501266;NM_001323;U62800;U81233 AAB06566;AAB61305;AAH31334;AAN52757;CAG33153;CAM83949;EAW74487;NP_001314;Q15828 Hs.139389 2129534 RH71245 OTTHUMP00000234150;cystatin 6;cystatin M;cystatin M/E;cystatin-6;cystatin-E;cystatin-M;cysteine proteinase inhibitor APPROVED protein-coding ENSG00000175315 HGNC:2478 03535 601891 REVIEWED 1322184 CST5 cystatin D The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23929951 23933759 - 23856572 23860380 - 23875935 23879743 - 1580863;6480464 11780052;11879580;12477932;15489334;15728581;17207965;18615156;19199708;1939105;19662683;20223287;20379614;3202964;7690606;7896273;8083219;8179826;8340398;8422752;8444475;9007972 1473 P28325 ABBA01012360;AL591074;AMYH02036839;BC062678;BC069514;CB985957;CH471133;NM_001900;X59964;X70377 AAH62678;AAH69514;ADQ31945;CAA42590;CAA49838;EAX10132;NP_001891;P28325 Hs.121489 1742371;1768729;5096011 GDB:196500;RH66796;SHGC-11944 MGC71922 OTTHUMP00000030448;cystatin 5;cystatin-5;cystatin-D;cysteine-proteinase inhibitor APPROVED protein-coding ENSG00000170367 HGNC:2477 00463 123858 REVIEWED 1342542 CST7 cystatin F (leukocystatin) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 25003521 25014368 + 24929866 24940564 + 24949230 24959928 + 1580863;6480464 10945474;11079561;11780052;12423348;12477932;15212960;15489334;15752368;16601115;17207965;18256700;19192250;21344476;22365146;3202964;8179826;9007972;9632704;9733783;9892200 8530 O76096 AB015225;AB029636;ABBA01048732;AF031824;AF036342;AJ510167;AL035661;AMYH02036842;AMYH02036843;BC015507;BG547285;BT009825;CA449286;CH471133;CR541860;CR541878;NM_003650 AAC35747;AAC39788;AAH15507;AAP88827;ADQ32788;BAA34941;BAB11886;CAD52872;CAG46658;CAG46676;EAX10116;NP_003641;O76096 Hs.143212 1686726 RH46008 CMAP OTTHUMP00000030465;cystatin-7;cystatin-F;cystatin-like metastasis-associated protein;leukocystatin APPROVED protein-coding ENSG00000077984 HGNC:2479 04458 603253 REVIEWED 1606729 CST9 cystatin 9 (testatin) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted protein that may play a role in hematopoietic differentiation or inflammation. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23656313 23659876 - 23583047 23586610 - 23602410 23605973 - 6480464 12477932;12535658;15060002;17903292;20383146;20565543;23922243 128822 Q5W186 ABBA01016179;AF494536;AL121894;AMYH02036839;BC137302;BC137303;CH471133;NM_001008693;XM_005260665 AAI37303;AAI37304;AAM18055;EAX10139;NP_001008693;Q5W186;XP_005260722 Hs.698020 CLM;CTES7A OTTHUMP00000030437;cystatin-9;cystatin-like molecule APPROVED protein-coding ENSG00000173335 HGNC:13261 16768 REVIEWED 736077 CST8 cystatin 8 (cystatin-related epididymal specific) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 20 20 20 p11.21 23545174 23550066 + 23471766 23476655 + 23491101 23496018 + 1580863;6480464;8554872 10229662;11780052;12193387;12477932;1280328;15489334;16740002;17207965;19204726;20565543;3202964;7690606;7896273;8179826;9007972 10047 A2A2N0;O60676 AA436982;ABBA01016177;AF059244;AL109954;AMYH02036837;AW665128;BC069496;BC069536;BC105113;BC105119;BX096109;CH471133;HC006890;HC044551;KF456863;NM_001281730;NM_005492;XM_005260639 AAC14707;AAH69496;AAI05114;AAI05120;ADQ32901;CBH19250;CBH30605;EAX10144;NP_001268659;NP_005483;O60676;XP_005260696 Hs.121602 CRES;CTES5 OTTHUMP00000030434;OTTHUMP00000164183;cystatin 8;cystatin-8;cystatin-related epididymal spermatogenic protein;cystatin-related epididymal-specific APPROVED protein-coding ENSG00000125815 HGNC:2480 16366 608683 REVIEWED 1322270 CST9L cystatin 9-like The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23618635 23622652 - 23545369 23549386 - 23564732 23568749 - 6480464 11756564;11780052;12477932;12644294;12975309;15340161;15489334;17903292;18976975;20565543;21988832;3202964;7690606;7896273;8179826;9007972 128821 Q9H4G1 ABBA01016177;AK312112;AL121894;AMYH02036837;AY358615;BC029656;CH471133;HC006892;HC044795;NM_080610 AAH29656;AAQ88978;ABM84612;ABM87516;ABM87517;BAG35048;CBH19251;CBH30727;EAX10140;NP_542177;Q9H4G1 Hs.121554 CTES7B;FLJ92394;bA218C14.1 OTTHUMP00000030435;cystatin-9-like;testatin APPROVED protein-coding ENSG00000101435 HGNC:16233 16769 REVIEWED 5013874 CST9LP1 cystatin 9-like pseudogene 1 ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH orphenadrine (ortholog); pirinixic acid (ortholog); titanium dioxide (ortholog) 20 20 20 p11.21 23601761 23604652 - 23528401 23531289 - 23547764 23550652 - 6480464 11780052;20565543 128820 Q5W188 ABBA01016177;AL121894;AMYH02036837;NG_029361 Q5W188 CTES7C pseudo HGNC:39552 INFERRED 735434 CSTB cystatin B (stefin B) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30299423 30301851 - 45193546 45196256 - 43773665 43776375 - 704404;1580863;6480464;7240710;8554872;8699517 10721698;10830953;11139332;11514663;11571333;11697734;11697735;12215838;12452481;12477932;12573263;12938929;14503883;15048832;15483648;15489334;15832773;15955063;16205844;16321512;16342276;16939620;16969475;17003839;17110338;17353931;17701471;17920138;18029348;18281540;18397316;1855589;18636508;18951626;19056867;19342095;19913121;19955183;1996959;20075068;20078424;20301321;20628086;21139048;21145461;21757863;21890473;21900206;22033403;22057043;22145905;22287159;22863883;22939629;22990118;23000965;23010349;23205931;23362198;2347312;23656633;23824909;24654937;24909779;3053245;3122506;3261170;3488317;3902020;6203523;8014475;8104628;8596935;8938434;9007972;9012407;9054946;9090386;9342192;9769367 1476 P04080;Q76LA1 AB083085;ABBA01074137;AF208234;AK312133;AMYH02037899;AP001053;AP001752;BC003370;BC010532;BT007040;BX419549;CD364415;CH471079;CR542148;L03558;NG_011545;NM_000100;U46692 AAA35727;AAA99014;AAF44059;AAH03370;AAH10532;AAP35689;ABM81849;ABM84999;BAA95541;BAC20304;BAG35069;CAG46945;EAX09473;EAX09474;NP_000091;P04080 Hs.695 1693818;1700474;1712360;1712362;1712364;1712366;1712368;1712370;1712372;1728943;2177457 Cstb;G54168;G54169;G54170;G54171;G54172;G54173;G54174;RH103858;SHGC-56470;SHGC-87678 CPI-B;CST6;EPM1;EPM1A;PME;STFB;ULD OTTHUMP00000109464;cystatin b;cystatin-B;liver thiol proteinase inhibitor;stefin B;stefin-B APPROVED protein-coding HGNC:2482 03091 254800;601145 REVIEWED 1320029 CSTA cystatin A (stefin A) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008] 3 3 3 q21 120453644 120470444 + 122044011 122060816 + 122325164 122341969 + 1580863;6480464;7240710;8554872;8699517 10353845;107702;107703;10908733;11329013;11451947;11532941;12477932;12581647;12682854;1286667;12890214;12921779;14503883;14747998;15048832;15175029;15489334;16169070;16342276;16969475;17412564;17441792;17985332;18029348;18364739;1940442;19615732;19933866;2004763;20461718;20558539;20705733;21038029;21139048;21145461;21319273;21325429;21412248;21800051;21890473;21944047;22118674;22145905;22354994;22615763;22787201;23349634;23443559;23534700;23546957;23656633;2424340;2768224;3067731;3122506;3488317;6203523;6429090;6689312;7541394;7578072;7869384;8999895;9007972;9219725;9522124;9585570;9651321;9769367 1475 C9J0E4;P01040 AB007774;ABBA01016470;ABBA01016471;AC083798;AK291308;AMYH02007537;AV716538;AV717631;BC010379;BG213814;CH471052;CR456914;CS185576;D88422;NG_027995;NM_005213;X05978 AAA72785;AAH10379;BAA13609;BAA87858;BAF83997;CAA29398;CAG33195;CAJ42757;EAW79489;NP_005204;P01040 Hs.518198 1337853;1709744;1743097;1753819;2160485 D12S390;GDB:252095;L17926;SHGC-108022;SHGC-84683 AREI;STF1;STFA OTTHUMP00000215569;cystatin AS;cystatin-A;cystatin-AS;stefin A;stefin-A APPROVED protein-coding ENSG00000121552 HGNC:2481 01697 184600;607936 REVIEWED 7207308 CSTF3-AS1 CSTF3 antisense RNA 1 (head to head) 11 11 11 p13 33329892 33359812 + 33183203 33213144 + 33161657 33191598 + 12477932;16344560 338739 ABBA01060898;AC131263;AMYH02024562;AMYH02024563;AMYH02024564;BC043375;DA256284;HG503669;HG503670;NR_034027 Hs.423476 RP11-348A11.4 ncrna ENSG00000247151 HGNC:27882 VALIDATED 1319516 CSTF1 cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.2 51707860 51720014 + 54967427 54979582 + 56392371 56404526 + 1580863;6480464;6907045 10477523;10669729;11257228;11278247;11459828;11780052;11790298;12226669;12477932;1358884;15489334;15592455;15878232;1741396;18676680;18842000;19124506;19170196;19615732;19625176;19692168;20379136;20379614;21070969;21139048;21903422;21906983;22446626;23537643;24250222;24457600;25027693;7590244;7984242;8626397;9002523 1477 A3KFI9;Q05048 AA037145;ABBA01052891;AK293182;AK312774;AL121914;AMYH02037339;BC001011;BC007425;BE958524;BI547689;BT007138;BU189431;BU189971;BU934383;CF272312;CH471077;L02547;NM_001033521;NM_001033522;NM_001324 AAA35691;AAH01011;AAH07425;AAP35802;ABM83633;ABM83643;ABM86885;BAG35638;BAG56724;EAW75548;EAW75549;NP_001028693;NP_001028694;NP_001315;Q05048 Hs.172865 1645330;1767809;2164015 D20S1008;STS-L02547;WI-14647 CstF-50;CstFp50 CF-1 50 kDa subunit;CSTF 50 kDa subunit;OTTHUMP00000031332;OTTHUMP00000031333;OTTHUMP00000031334;cleavage stimulation factor 50 kDa subunit;cleavage stimulation factor subunit 1;cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD APPROVED protein-coding HGNC:2483 02653 600369 REVIEWED 1320690 CSTF2T cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA processing (inferred); PARTICIPATES IN mRNA decay pathway; FOUND IN intracellular; INTERACTS WITH all-trans-retinoic acid; cadmium atom; copper(2+) sulfate 10 10 10 q11 46718008 46722117 - 53455246 53459355 - 51695486 51699595 - 6480464;6907045 11113135;11230166;11256614;12408968;12477932;12773396;14749727;15302935;15489334;15767428;16189514;16385451;16713569;19779565;21139048;21890473;21906983;22053931;22505724;22939629;23000965;24149845;24816145;7590244;8125298;8889548;9734811 23283 Q9H0L4 AB014589;ABBA01052503;AC068062;AK222574;AK314318;AL136747;AMYH02023075;AY130299;BC017185;BC028239;BI962669;BU743103;BX455090;CH471083;NG_029982;NM_015235 AAH28239;AAN05429;ADZ15426;BAA31664;BAD96294;BAG36966;CAB66681;EAW54142;NP_056050;Q9H0L4 Hs.591358 1665921;1708126;2110905 D10S248E;SHGC-81463;WI-15606 CstF-64T;DKFZp434C1013;KIAA0689 CF-1 64 kDa subunit tau;CSTF 64 kDa subunit tau;OTTHUMP00000019616;cleavage stimulation factor 64 kDa subunit tau;cleavage stimulation factor subunit 2 tau;cleavage stimulation factor subunit 2 tau variant;tauCstF-64 protein-coding ENSG00000177613 HGNC:17086 09900 611968 VALIDATED 1345230 CSTP1 cystatin pseudogene 1 20 20 20 p11 23972789 23976181 - 23899408 23902806 - 23918771 23922169 - 11879580;12499242;1334620;23799035;3446578;7896273;8179826 1480 ABBA01048740;AL121831;AMYH02036839;NG_001020 dJ850N15.1 pseudo ENSG00000228476 HGNC:2486 INFERRED 1314208 CSTF3 cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 11 p13 33252825 33329726 - 33106130 33183037 - 33084584 33161491 - 1580863;6480464;6907045 10454562;10669729;11172707;11459828;12149458;12226669;12477932;1358884;14749727;15489334;15782160;16554811;17081983;17207965;17353931;1741396;18029348;19136632;19887456;21119002;21139048;21145461;21890473;21906983;22174317;22446626;22751105;22939629;23000965;23874216;24163370;24489884;24550385;24816145;7590244;7984242;9002523 1479 E9PJ06;E9PLP8;E9PNK2;H0YE74;Q12996 ABBA01060898;AC131263;AK290836;AK294204;AK297371;AL121926;AMYH02024561;AMYH02024562;BC009792;BC010533;BC059948;BC108319;BG435786;CH471064;NM_001033505;NM_001033506;NM_001326;U15782;XM_006718154 AAA61417;AAH09792;AAH10533;AAH59948;AAI08320;ADQ32369;BAF83525;BAG57516;BAG59816;CAC48252;EAW68200;EAW68201;EAW68202;EAW68203;NP_001028677;NP_001028678;NP_001317;Q12996;XP_006718217 Hs.44402 1648775;1673041;1737799;1851244;2110343 CSTF3__4648;D11S3403;HSCZRG082;RH48382;STS-N32907 CSTF-77;MGC117398;MGC43001;MGC75122 CF-1 77 kDa subunit;CSTF 77 kDa subunit;OTTHUMP00000232402;OTTHUMP00000232404;OTTHUMP00000232405;OTTHUMP00000232407;cleavage stimulation factor 77 kDa subunit;cleavage stimulation factor subunit 3;cleavage stimulation factor subunit 3, isoform 1;cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD APPROVED protein-coding ENSG00000176102 HGNC:2485 02651 600367 REVIEWED 1351144 CSTF2 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3' end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008] X X X q22.1 100594139 100614716 + 100075348 100095924 + 100820359 100840935 + 1580863;6480464;6907045;8554872 10477523;10669729;11113135;11257228;11389848;11598190;12226669;12477932;12773396;1358884;14702039;14707147;14749727;15489334;15769465;15772651;16159877;16169070;16189514;16207706;16713569;17135252;1741396;18029348;18272196;18305108;18688255;19136632;19284619;19887456;20379136;20972266;21119002;21813631;21832049;21890473;21906983;21963094;22053931;22174317;22505724;22863883;22939629;23000965;23112178;24149845;24550385;24816145;7590244;7984242;8626397;8654386;8945520;9002523;9199325;9736695;9885564 1478 E7EWR4;E9PID8;P33240 ABBA01064125;AK095684;AK300600;AMYH02040060;AW016125;BC017712;BC033135;BT009778;CH471115;EU616679;M85085;NG_015848;NM_001325;XM_006724622;Z83819;Z95327 AAA35724;AAH17712;AAH33135;AAP88780;ABM82458;ABM85647;ACF05699;BAG62297;EAX02818;EAX02819;NP_001316;P33240;XP_006724685 Hs.132370 2129821;2162873;2169886 DXS8278;G31136;RH1708 CstF-64 CF-1 64 kDa subunit;CSTF 64 kDa subunit;OTTHUMP00000024310;OTTHUMP00000234163;betaCstF-64 variant 2;cleavage stimulation factor 64 kDa subunit;cleavage stimulation factor subunit 2;cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD APPROVED protein-coding ENSG00000101811 HGNC:2484 02652 300907 REVIEWED 1316602 CSTL1 cystatin-like 1 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23493702 23498947 + 23420322 23425567 + 23439685 23444930 + 1580863;6480464;8554872 11780052;12477932;15489334;20565543;3202964;7690606;7896273;8179826;9007972 128817 Q9H114 ABBA01016177;AL096677;AMYH02036837;AY707749;BC117396;BC144010;BC144013;BI560738;CH471133;FJ895879;FJ895880;NM_138283 AAI17397;AAU20813;ADR82827;EAX10148;EAX10149;NP_612140;Q9H114 Hs.352134 CTES1;RCET11;dJ322G13.4 OTTHUMP00000030428 APPROVED protein-coding ENSG00000125823 HGNC:15958 16770 REVIEWED 1625091 CT45A2 cancer/testis antigen family 45, member A2 This gene represents one of a cluster of several similar genes located on the q arm of chromosome X. The genes in this cluster encode members of the cancer/testis (CT) family of antigens, and are distinct from other CT antigens. These antigens are thought to be novel therapeutic targets for human cancers. [provided by RefSeq, Apr 2014] X X X q26.3 135232179 135241955 + 134856887 134874268 + 135811961 135820012 - 6480464 12477932;15905330;20920256 728911 Q5DJT8 AC240441;AL590618;AY743710;BQ020473;NG_021269;NM_152582;XM_006724783 AAW66465;CAI41545;NP_689795;Q5DJT8;XP_006724846 Hs.535081;Hs.632281 5111671 AL032555 CT45-2;CT45.2 OTTHUMP00000024081;OTTHUMP00000221762;OTTHUMP00000221763;cancer/testis antigen 45-2;cancer/testis antigen 45A2;cancer/testis antigen CT45;cancer/testis antigen family 45 member A2 APPROVED protein-coding ENSG00000271449 HGNC:28400 06644 300793 REVIEWED 1604675 CT45A3 cancer/testis antigen family 45, member A3 INTERACTS WITH cadmium atom X X X q26.3 135232179 135241955 + 134874147 134891521 + 135760157 135777474 - 6480464 12477932;15905330;16341674;17207965 441519 Q8NHU0 AC240441;AL590618;AMYH02040559;AMYH02040560;AY743711;CH471107;NM_001017435;XM_005278135;XM_006724758 AAW66466;ADQ32802;CAI41546;EAX11718;EAX11719;NP_001017435;Q8NHU0;XP_005278192;XP_006724821 Hs.535080 CT45-3;CT45.3;RP13-36C9.1;RP13-36C9.3 OTTHUMP00000024083;OTTHUMP00000221760;OTTHUMP00000221761;cancer/testis antigen 45-3;cancer/testis antigen 45A3;cancer/testis antigen CT45-3;cancer/testis antigen family 45 member A3 protein-coding ENSG00000269096 HGNC:33268 18653 300794 PROVISIONAL 1604674 CT45A4 cancer/testis antigen family 45, member A4 INTERACTS WITH cadmium atom X X q26.3 135232179 135241955 + 134928587 134936735 - 6480464 15905330 441520 Q8N7B7 AK098689;AL590618;AMYH02040563;AMYH02040564;AMYH02040565;AMYH02040566;AY743712;NM_001017436;XM_006726858 AAI48517;AAI53114;AAW66467;BAC05380;CAI41549;NP_001017436;Q8N7B7;XP_006726921 Hs.568346;Hs.632281 5111671 AL032555 CT45-4;CT45.4;CT45A6 OTTHUMP00000024079;OTTHUMP00000219438;OTTHUMP00000219439;cancer/testis antigen 45-4/6;cancer/testis antigen 45A4/45A6;cancer/testis antigen CT45-4;cancer/testis antigen family 45 member A4/A6 protein-coding HGNC:33269 18654 300795 PROVISIONAL 1353811 CSTP2 cystatin pseudogene 2 20 20 20 p11.21 23826771 23830081 - 23753496 23756806 - 23772859 23776169 - 11879580;1334620;7896273;8179826 1481 ABBA01017987;AF319563;AL591074;AMYH02036839;KF456866;NG_029332 pseudo HGNC:2487 INFERRED 1605157 CT45A1 cancer/testis antigen family 45, member A1 INTERACTS WITH cadmium dichloride; copper(2+) sulfate X X X q26.3 135232179 135241955 + 134847185 134856988 + 135713453 135723228 + 6480464 12477932;15905330;19296537;20133697 541466 Q5HYN5 AA757285;ABBA01050106;AC240442;AMYH02040556;AY743709;BC140913;BX537333;NM_001017417;XM_005278141 AAI40914;AAW66464;NP_001017417;Q5HYN5;XP_005278198 Hs.460937;Hs.535080 CT45;CT45-1;CT45.1 OTTHUMP00000024076;OTTHUMP00000024077;XX-FW88277B6.1;cancer/testis antigen 45-1;cancer/testis antigen 45A1;cancer/testis antigen CT45-1;cancer/testis antigen family 45 member A1 protein-coding ENSG00000268940 HGNC:33267 18673 300648 VALIDATED 2859131 CT45B1P cancer/testis antigen family 45, member B1 pseudogene 5 5 5 q21 105115855 105116603 - 109175650 109176398 - 109839949 109840697 - 15905330 100337646 ABBA01069083;AC008417;AMYH02011957;NG_016473 pseudo HGNC:33580 INFERRED 1605158 CT45A6 cancer/testis antigen family 45, member A6 INTERACTS WITH cadmium atom X X X q26.3 135232179 135241955 + 134963213 134971244 - 135794687 135812012 - 6480464 14702039;15772651;15905330 541465 AC240441;AL590618;AY743714;NM_001017438;XM_005262425;XM_006724762 AAI56862;AAW66469;CAI41551;NP_001017438;Q8N7B7;XP_005262482;XP_006724825 Hs.676560 CT45-6;CT45.6;CT45A4 OTTHUMP00000024087;OTTHUMP00000221764;OTTHUMP00000221765;cancer/testis antigen 45-4/6;cancer/testis antigen 45A4/45A6;cancer/testis antigen CT45-6;cancer/testis antigen family 45 member A4/A6 protein-coding ENSG00000278289 HGNC:33271 18672 300797 VALIDATED 2306145 CT47A10 cancer/testis antigen family 47, member A10 X X q24 120072555 120075873 - 120938701 120942019 - 16382448 728036 Q5JQC4 AL670379;NG_027735;NM_001080137 NP_001073606;Q5JQC4 Hs.729566 5113933 RH98429 CT47;CT47.10;CT47A1;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 OTTHUMP00000023955;cancer/testis CT47 family, member 10;cancer/testis antigen 47;cancer/testis antigen 47A protein-coding ENSG00000224089 HGNC:33291 300789 VALIDATED 1604673 CT45A5 cancer/testis antigen family 45, member A5 This gene represents one of a cluster of several similar genes located on the q arm of chromosome X. The genes in this cluster encode members of the cancer/testis (CT) family of antigens, and are distinct from other CT antigens. These antigens are thought to be novel therapeutic targets for human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] X X X q26.3 135232179 135241955 + 134945651 134963316 - 135777130 135794736 - 6480464 12477932;15905330;17207965 441521 Q6NSH3 AC240441;AL590618;AY743713;BC028711;BC140735;BC140926;BC144437;CH471150;NG_016551;NM_001007551;NM_001172288;XM_006724759 AAH28711;AAI40736;AAI40927;AAI44438;AAW66468;ADQ32006;CAI41550;EAW88487;NP_001007552;NP_001165759;Q6NSH3;XP_006724822 Hs.535080;Hs.535081 5111671 AL032555 CT45-5;CT45.5;CT455;RP13-36C9.6 OTTHUMP00000024085;OTTHUMP00000219440;OTTHUMP00000219441;cancer/testis antigen 45-5;cancer/testis antigen 45A5;cancer/testis antigen CT45-5;cancer/testis antigen family 45 member A5 APPROVED protein-coding ENSG00000228836 HGNC:33270 17573 300796 REVIEWED 2306138 CT47A2 cancer/testis antigen family 47, member A2 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 120111460 120114778 - 120977606 120980924 - 16382448 728090 Q5JQC4 AL670379;AMYH02040367;AMYH02040368;AMYH02040369;AMYH02040370;AMYH02040371;AMYH02040372;NG_027741;NG_027742;NM_001080145 NP_001073614;Q5JQC4 Hs.729566 5113933 RH98429 CT47;CT47.2;CT47A1;CT47A10;CT47A11;CT47A12;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 OTTHUMP00000023958;cancer/testis CT47 family, member 2;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000242362 HGNC:33283 300781 VALIDATED 2306137 CT47A1 cancer/testis antigen family 47, member A1 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. This locus is the most telomeric of the cluster.[provided by RefSeq, Sep 2010] X X q24 120116320 120119638 - 120982466 120985784 - 16382448 728096 Q5JQC4 AL670379;AMYH02040372;NG_027742;NG_027743;NM_001080146 NP_001073615;Q5JQC4 Hs.729566 5113933 RH98429 CT47;CT47.1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 OTTHUMP00000023957;cancer/testis CT47 family, member 1;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000236371 HGNC:33282 300780 VALIDATED 2306139 CT47A3 cancer/testis antigen family 47, member A3 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 120106600 120109918 - 120972746 120976064 - 16382448 728082 Q5JQC4 AL670379;NG_027740;NG_027741;NM_001080144 NP_001073613;Q5JQC4 Hs.729566 5113933 RH98429 CT47;CT47.3;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 OTTHUMP00000023959;cancer/testis CT47 family, member 3;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000236126 HGNC:33284 300782 VALIDATED 5508524 CT47A12 cancer/testis antigen family 47, member A12 X X q24 120011344 120066151 - 120877490 120932297 - 16382448 100507170 Q5JQC4 AC008162;AL670379;NM_001242922 NP_001229851;Q5JQC4 Hs.729566 5113933 RH98429 CT47;CT47.12;CT47A1;CT47A10;CT47A11;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 cancer/testis CT47 family, member 12;cancer/testis antigen 47;cancer/testis antigen 47A;cancer/testis antigen 47A family member protein-coding ENSG00000226685 HGNC:33292 PROVISIONAL 2306140 CT47A4 cancer/testis antigen family 47, member A4 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 120101740 120105058 - 120967886 120971204 - 16382448 728075 Q5JQC4 AL670379;NG_027740;NM_001080143 NP_001073612;Q5JQC4 Hs.729566 5113933 RH98429 CT47;CT47.4;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 OTTHUMP00000023960;cancer/testis CT47 family, member 4;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000230594 HGNC:33285 300783 VALIDATED 2306148 CT47A7 cancer/testis antigen family 47, member A7 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 120087136 120090454 - 120953282 120956600 - 16382448 653282 Q5JQC4 AL670379;NG_027736;NG_027738;NM_001080140 NP_001073609;Q5JQC4 Hs.712504 5113933 RH98429 CT47;CT47.7;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A8;CT47A9 OTTHUMP00000023963;cancer/testis CT47 family, member 7;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000228517 HGNC:33288 300786 VALIDATED 1605557 CT47A11 cancer/testis antigen family 47, member A11 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 120067694 120071012 - 120933840 120937158 - 6480464 12477932;16382448;18976975 255313 Q5JQC4 AI024600;AL670379;BC029540;DB471077;NG_027735;NM_173571 AAH29540;NP_775842;Q5JQC4 Hs.522775;Hs.715076 5113933 RH98429 CT47;CT47.11;CT47A1;CT47A10;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 OTTHUMP00000023956;cancer/testis CT47 family, member 11;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000226929 HGNC:27397 06619 300592 VALIDATED 2306141 CT47A5 cancer/testis antigen family 47, member A5 X X q24 120096880 120100198 - 120963026 120966344 - 16382448 728072 Q5JQC4 AL670379;NG_027739;NM_001080142 NP_001073611;Q5JQC4 Hs.729566 5113933 RH98429 CT47;CT47.5;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A6;CT47A7;CT47A8;CT47A9 OTTHUMP00000023961;cancer/testis CT47 family, member 5;cancer/testis antigen 47;cancer/testis antigen 47A protein-coding ENSG00000237957 HGNC:33286 300784 VALIDATED 2306142 CT47A6 cancer/testis antigen family 47, member A6 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 120092019 120095337 - 120958165 120961483 - 16382448 728062 Q5JQC4 AL670379;NG_027736;NG_027739;NM_001080141 NP_001073610;Q5JQC4 Hs.723061 5113933 RH98429 CT47;CT47.6;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A7;CT47A8;CT47A9 OTTHUMP00000023962;cancer/testis CT47 family, member 6;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000226023 HGNC:33287 300785 VALIDATED 2306143 CT47A8 cancer/testis antigen family 47, member A8 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 120082276 120085594 - 120948422 120951740 - 16382448 728049 Q5JQC4 AL670379;NG_027737;NG_027738;NM_001080139 NP_001073608;Q5JQC4 Hs.729566 5113933 RH98429 CT47;CT47.8;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A9 OTTHUMP00000023964;cancer/testis CT47 family, member 8;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000230347 HGNC:33289 300787 VALIDATED 2306144 CT47A9 cancer/testis antigen family 47, member A9 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 120077415 120080733 - 120943561 120946879 - 16382448 728042 Q5JQC4 AL670379;NG_027737;NM_001080138 NP_001073607;Q5JQC4 Hs.729566 5113933 RH98429 CT47;CT47.9;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8 OTTHUMP00000023965;cancer/testis CT47 family, member 9;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000226600 HGNC:33290 300788 VALIDATED 1346058 CTAA1 cataract, anterior polar 1 ASSOCIATED WITH CATARACT 32, MULTIPLE TYPES (inferred) 7240710 1497515 1483 HGNC:2489 115650 2312706 CT62 cancer/testis antigen 62 15 15 15 q23 48293438 48298694 - 71402583 71407929 - 71110244 71115590 - 12477932;15905330;23400010 196993 H3BQ22;H3BR62;P0C5K7;V9GYR9 AA453520;ABBA01038749;ABBA01038750;AC068181;AL080151;AMYH02030724;BC039359;BC048128;DB443655;NM_001102658;XM_006720429 NP_001096128;P0C5K7;XP_006720492 Hs.646533 1679531 RH92560 protein-coding ENSG00000225362 HGNC:27286 VALIDATED 1343436 CTAA2 cataract, anterior polar 2 ASSOCIATED WITH Anterior polar cataract 2 (inferred) 7240710 885266 1484 1338613;1339405;7185312 D17S796;D17S849 HGNC:2490 601202 2306151 CT47B1 cancer/testis antigen family 47, member B1 X X X q24 866 2933 + 120006451 120009779 - 120872597 120875925 - 16382448 643311 P0C2W7 ABBA01036074;ABBA01036075;AC008162;AMYH02040367;NM_001145718 NP_001139190;P0C2W7 Hs.729566 5113933 RH98429 CT47.13;CT47A13 OTTHUMP00000023954;cancer/testis CT47 family, member 13;cancer/testis antigen 47.13;cancer/testis antigen 47B;cancer/testis antigen family 147, member B1 APPROVED protein-coding ENSG00000236446 HGNC:33293 300790 VALIDATED 1344197 CTAG1A cancer/testis antigen 1A CTAG1A is an identical copy of the CTAG1B gene (MIM 300156) (Aradhya et al., 2001 [PubMed 11709543]).[supplied by OMIM, Mar 2008] X X X q28 154005869 154007526 - 153813418 153815075 + 154585154 154586816 + 6480464 10523621;11256614;11351307;11397121;11709543;12065688;12445278;12477932;15489334;15772651;16596224;17137291;9050879;9605863;9626360;9759882 246100 P78358 AC244090;AF038567;AF277315;AJ003149;AJ275978;AX024691;AX024693;BC130362;BC130364;NM_139250;U87459 AAB49693;AAD05202;AAD05203;AAI30363;AAI30365;AAI60040;AAL27013;CAA05908;CAB76945;CAC08999;CAC09000;NP_640343;P78358 Hs.534310 1340490;1804764;1805270;1807692;1815802;1816748;1817924;1818426;1819842;1820910;1824182;1824716;1825126;1825834;1826158;1831558;1836822;1837952;1839304;1839346;1841494;1841760;1845142;1846472;2038038;2038040;2038042;2038044;2038046;2038048;2038050;2038052;2038054;2038056;2038058;2038060;2038062;2038064;2038066;2038068;2038070;2038072;2038074;2038076;2038078;2038080;2038082;2038084;2038086;2038088;2038090;2038092;2038094;2038096;2038098;2038100;2038102;2038104;2038106;2038108;2038110;2038112;2038114;2038116;2038118;2038120;2038122;2038124;2038126;2038128;2038130;2038132;2038134;2038136;2038138;2038140;2038142;2038144;2038146;2038148;2038150;2038152;2038154;2038156;2038158;2038160;2038162;2038164;2038166;2038168;2038170;2038172;2038174;2038176;2038178;2038180;2038182;2038184;2038186;2038188;2038190;2038192;2038194;2038196;2038198;2038200;2038202;2038204;2038206;2038208;2038210;2038212;2102704;2102706;2102708;2102710;2102712;2102714;2102716;2102718;2102720;2102722;2102724;2102726;2102728;2102730;2102732;2102734;2102736 DXS1073;ECD03314;ECD03580;ECD04818;ECD08940;ECD09418;ECD10017;ECD10271;ECD10991;ECD11531;ECD13187;ECD13456;ECD13664;ECD14025;ECD14189;ECD16916;ECD19575;ECD20147;ECD20832;ECD20854;ECD21943;ECD22079;ECD23788;ECD24456;REN90033;REN90034;REN90035;REN90036;REN90037;REN90038;REN90039;REN90040;REN90041;REN90042;REN90043;REN90044;REN90045;REN90046;REN90047;REN90048;REN90049;REN90050;REN90051;REN90052;REN90053;REN90054;REN90055;REN90056;REN90057;REN90058;REN90059;REN90060;REN90061;REN90062;REN90063;REN90064;REN90065;REN90066;REN90067;REN90068;REN90069;REN90070;REN90071;REN90072;REN90073;REN90074;REN90075;REN90076;REN90077;REN90078;REN90079;REN90080;REN90081;REN90082;REN90083;REN90084;REN90085;REN90086;REN90087;REN90088;REN90089;REN90090;REN90091;REN90092;REN90093;REN90094;REN90095;REN90096;REN90097;REN90098;REN90099;REN90100;REN90101;REN90102;REN90103;REN90104;REN90105;REN90106;REN90107;REN90108;REN90109;REN90110;REN90111;REN90113;REN90115;REN90116;REN90118;REN90119;REN90120;REN90122;REN90123;REN90124;stSG604162;stSG604166;stSG604167;stSG604168;stSG604169;stSG604170;stSG604171;stSG604172;stSG604173;stSG604174;stSG604175;stSG604176;stSG604177;stSG604178;stSG604180;stSG604181;stSG604182 CT6.1;CTAG1B;ESO1;LAGE-2;LAGE2A OTTHUMP00000026042;autoimmunogenic cancer/testis antigen NY-ESO-1;cancer/testis antigen 1;cancer/testis antigen 1-A;cancer/testis antigen 6.1;l antigen family member 2 APPROVED protein-coding ENSG00000268651 HGNC:24198 06607 300657 PROVISIONAL 1353571 CTAG1B cancer/testis antigen 1B The protein encoded by this gene is an antigen that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region of the X-chromosome and therefore has a neighboring gene of identical sequence. [provided by RefSeq, Jan 2012] X X X q28 154005869 154007526 - 153845865 153847522 - 154617609 154619271 - 6480464 10523621;10901371;11120859;11256614;11351307;11397121;11709543;11782380;12065688;12138174;12209997;12445278;12452034;12477932;12853579;12889868;14503968;14522938;14559844;14583496;15026363;15069548;15240519;15252201;15475443;15521719;15671442;15772651;16114059;16140944;16596224;16751374;16951317;17023585;17137291;17208940;17488334;17625806;17640060;18396787;18923710;18982744;19030781;19155470;19212631;19380770;19531622;19728336;19795170;20044626;20053942;20368442;20591578;20733200;21131422;21247062;21556122;21900253;21906983;21933959;22323448;22388761;22529253;22936067;23312906;23454162;23599152;23645764;23923079;24103781;24290058;24482145;24789172;9050879;9605863;9626360;9759882 1485 O95146;P78358 ABBA01029065;AC244107;AF038567;AF277315;AJ003149;AJ275977;AJ275978;BC130362;BC130364;CH471172;NM_001327;U87459 AAB49693;AAD05202;AAD05203;AAI30363;AAI30365;AAL27014;CAA05908;CAB76943;CAB76944;CAB76945;EAW72674;NP_001318;P78358 Hs.534310;Hs.745351 1340490;1804764;1805270;1807692;1815802;1816748;1817924;1818426;1819842;1820910;1824182;1824716;1825126;1825834;1826158;1831558;1836822;1837952;1839304;1839346;1841494;1841760;1845142;1846472;2038038;2038040;2038042;2038044;2038046;2038048;2038050;2038052;2038054;2038056;2038058;2038060;2038062;2038064;2038066;2038068;2038070;2038072;2038074;2038076;2038078;2038080;2038082;2038084;2038086;2038088;2038090;2038092;2038094;2038096;2038098;2038100;2038102;2038104;2038106;2038108;2038110;2038112;2038114;2038116;2038118;2038120;2038122;2038124;2038126;2038128;2038130;2038132;2038134;2038136;2038138;2038140;2038142;2038144;2038146;2038148;2038150;2038152;2038154;2038156;2038158;2038160;2038162;2038164;2038166;2038168;2038170;2038172;2038174;2038176;2038178;2038180;2038182;2038184;2038186;2038188;2038190;2038192;2038194;2038196;2038198;2038200;2038202;2038204;2038206;2038208;2038210;2038212;2102704;2102706;2102708;2102710;2102712;2102714;2102716;2102718;2102720;2102722;2102724;2102726;2102728;2102730;2102732;2102734;2102736 DXS1073;ECD03314;ECD03580;ECD04818;ECD08940;ECD09418;ECD10017;ECD10271;ECD10991;ECD11531;ECD13187;ECD13456;ECD13664;ECD14025;ECD14189;ECD16916;ECD19575;ECD20147;ECD20832;ECD20854;ECD21943;ECD22079;ECD23788;ECD24456;REN90033;REN90034;REN90035;REN90036;REN90037;REN90038;REN90039;REN90040;REN90041;REN90042;REN90043;REN90044;REN90045;REN90046;REN90047;REN90048;REN90049;REN90050;REN90051;REN90052;REN90053;REN90054;REN90055;REN90056;REN90057;REN90058;REN90059;REN90060;REN90061;REN90062;REN90063;REN90064;REN90065;REN90066;REN90067;REN90068;REN90069;REN90070;REN90071;REN90072;REN90073;REN90074;REN90075;REN90076;REN90077;REN90078;REN90079;REN90080;REN90081;REN90082;REN90083;REN90084;REN90085;REN90086;REN90087;REN90088;REN90089;REN90090;REN90091;REN90092;REN90093;REN90094;REN90095;REN90096;REN90097;REN90098;REN90099;REN90100;REN90101;REN90102;REN90103;REN90104;REN90105;REN90106;REN90107;REN90108;REN90109;REN90110;REN90111;REN90113;REN90115;REN90116;REN90118;REN90119;REN90120;REN90122;REN90123;REN90124;stSG604162;stSG604166;stSG604167;stSG604168;stSG604169;stSG604170;stSG604171;stSG604172;stSG604173;stSG604174;stSG604175;stSG604176;stSG604177;stSG604178;stSG604180;stSG604181;stSG604182 CT6.1;CTAG;CTAG1;CTAG1A;ESO1;LAGE-2;LAGE2B;NY-ESO-1 New York esophageal squamous cell carcinoma 1;OTTHUMP00000026025;autoimmunogenic cancer/testis antigen NY-ESO-1;cancer antigen 3;cancer/testis antigen 1;cancer/testis antigen 6.1;l antigen family member 2 APPROVED protein-coding ENSG00000184033 HGNC:2491 02151 300156 REVIEWED 1344888 CTAG2 cancer/testis antigen 2 This gene encodes an autoimmunogenic tumor antigen that belongs to the ESO/LAGE family of cancer-testis antigens. This protein is expressed in a wide array of cancers including melanoma, breast cancer, bladder cancer and prostate cancer. This protein is also expressed in normal testis tissue. An alternative open reading frame product of this gene has been described in PMID:10399963. This alternate protein, termed CAMEL, is a tumor antigen that is recognized by melanoma-specific cytotoxic T-lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] X X X q28 154038327 154039934 - 153880246 153881853 - 154651972 154653579 - 1580863;6480464;8554872 10399963;11076863;11120859;11256614;11709543;12445278;12477932;12538712;14522938;14559844;15061963;15067093;15489334;15489336;15540228;15765097;16381901;16446548;17899192;18237105;19212631;21131422;21247062;21906983;21963094;22384167;23446634;9618514;9626360 30848 O75638 ABBA01029065;ABBA01029066;AC244107;AF277315;AJ012833;AJ012834;AJ012835;AJ223040;AJ223041;AJ223093;AX024685;AX024687;AX024689;AY679088;AY679089;BC002833;BC113998;BC114933;BC128045;CH471172;FB510852;FB510854;NG_021275;NM_020994;NM_172377 AAH02833;AAI13999;AAI14934;AAI28046;AAL27015;AAV98584;AAV98585;CAA10193;CAA10194;CAA10195;CAA10196;CAA10197;CAA11043;CAA11044;CAA11116;CAA11117;CAC08996;CAC08997;CAC08998;CAL37904;CAL38372;CAL38572;CAL38714;CAV32975;CAV32977;EAW72668;EAW72669;NP_066274;NP_758965;O75638 Hs.713312;Hs.87225 1813014;1814762;1819572;2038234;2038236;2038238;2038240;2038242;2038244;2038246;2038248;2038250;2038252;2038254;2102776 ECD07524;ECD08412;ECD10853;REN90136;REN90137;REN90138;REN90139;REN90140;REN90141;REN90142;REN90143;REN90144;REN90145;REN90146;stSG604213 CT2;CT6.2;CT6.2a;CT6.2b;ESO2;LAGE-1;LAGE-2b;LAGE2B;MGC138724;MGC3803 CAMEL;CTL-recognized antigen on melanoma;LAGE-1a protein;OTTHUMP00000026043;OTTHUMP00000026044;autoimmunogenic cancer/testis antigen NY-ESO-2;cancer/testis antigen 6.2;cancer/testis antigen family 6, member 2a;cancer/testis antigen family 6, member 2b;l antigen family member 1 APPROVED protein-coding ENSG00000126890 HGNC:2492 02318 300396 REVIEWED 1605263 CT83 cancer/testis antigen 83 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus X X X q23 115544636 115545921 + 115592853 115594194 - 116461686 116463033 - 8554872 12477932;16651449;21139048;23000965 203413 Q5H943 ABBA01049248;AC241580;AK000618;AK026566;AMYH02040297;AX061661;BC062223;CH471234;HC044605;HY170569;NG_021305;NM_001017978;Z96810 AAH62223;CAC25021;CAI42798;CBH30632;EAW51499;NP_001017978;Q5H943 Hs.97892 1689865 RH93168 CXorf61;FLJ20611;FLJ22913;KK-LC-1;KKLC1;RP3-452H17.2 OTTHUMP00000023879;kita-kyushu lung cancer antigen 1 APPROVED protein-coding ENSG00000204019 HGNC:33494 18577 300625 VALIDATED 1353544 CT55 cancer/testis antigen 55 INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) X X X q26.3 134675809 134689429 - 134290461 134305751 - 135156536 135171827 - 737633;6480464 12477932 14702039;15489334;15772651;17207965;18307534 54967 Q8WUE5 ABBA01050050;ABBA01050051;ABBA01050052;ABBA01050053;AC234771;AF520814;AK000534;AL670455;AMYH02040546;AY352211;BC020662;CH471107;NM_001031705;NM_017863;XM_005262427 AAH20662;AAP47205;AAQ90022;ADQ32264;BAA91237;CAI41607;CAI41608;EAX11734;NP_001026875;NP_060333;Q8WUE5;XP_005262484 Hs.272804 1702222;2133997 DXS1355;WI-11212 BJHCC20A;CXorf48;FLJ20527;RP13-565O16.1 BRCA2-interacting protein;OTTHUMP00000024069;OTTHUMP00000024070;tumor antigen BJ-HCC-20;uncharacterized protein CXorf48 APPROVED protein-coding ENSG00000169551 HGNC:26047 06534 VALIDATED 5128568 CTAGE13P CTAGE family, member 13, pseudogene 6 6 6 169405581 169407805 - 168687677 168689901 - 168286997 168289221 - 100421638 ABBA01000403;AL606970;AMYH02014989;NG_025892 pseudo HGNC:37298 INFERRED 1349885 CTAGE1 cutaneous T-cell lymphoma-associated antigen 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 18 18 18 p11.2 16800729 16805043 - 19993564 19997878 - 22413601 22417915 - 1580863;6480464;8554872 11149944;11181995;12477932;12839582;20467438;20694014;21890473;22752306 64693 Q8NEG8;Q96RT6;Q9HC47 ABBA01022660;AC099849;AF177229;AF273058;AMYH02034397;BC031065;BC070128;BC132871;CH471088;EF444969;NM_172241 AAG23843;AAH31065;AAI32872;AAK63198;ACA05971;ADR83256;EAX01138;NP_758441;Q96RT6 Hs.406709 1679698 RH92040 CT21.1;CT21.2;CTAGE-1;CTAGE-2 CTAGE;OTTHUMP00000231346;cTAGE family member 2;cancer/testis antigen 21.2;cancer/testis antigen family 21, member 1;cancer/testis antigen family 21, member 2;cutaneous T-cell lymphoma-associated antigen 2 protein-coding ENSG00000212710 HGNC:24346 16395 608856 VALIDATED 4144906 CTAGE12P CTAGE family, member 12, pseudogene 9 9 9 p21.2 27536490 27538853 - 27607986 27610965 - 27607988 27610967 - 21116278;23555189 392298 ABBA01065127;AL355585;AMYH02019356;NG_028957 1334851;1340098;1722191;1728603;1733786;1752865;1854641;2133516;2167941;5094230;7183429;7184931 1158;D9S1130;D9S161;D9S263;D9S964;G54653;G60148;G63593;RH47656;SHGC-106828 pseudo HGNC:37297 INFERRED 4144921 CTAGE14P CTAGE family, member 14, pseudogene 2 2 2 q24.3 162178899 162181418 - 168570007 168572575 - 167713497 167716065 - 23251661 401018 ABBA01004947;AC017070;AMYH02005160;NG_021536 pseudo HGNC:37299 INFERRED 4144922 CTAGE11P CTAGE family, member 11, pseudogene 13 13 13 q22.2 56709780 56712408 - 75811889 75814517 - 75237753 75240381 - 647288 ABBA01021640;AL133018;AL162571;AMYH02028278;NR_027466 Hs.567920 1727111;1854569 G27651;G62959 DKFZp434F0327;KIAA0603 pseudo ENSG00000214249 HGNC:37293 VALIDATED 1605478 CTAGE15 CTAGE family, member 15 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog) 7 7 7 q35 138576640 138577845 + 143268894 143271480 + 143571801 143574387 + 6480464 12477932;21139048 441294 A4D2H0 ABBA01133671;AC073264;AMYH02016943;AMYH02016944;AMYH02016945;AMYH02016946;BC146818;CH236959;NM_001008747 A4D2H0;AAI46819;AAI50315;EAL23792;NP_001008747 Hs.450233 1854569 G27651 CTAGE15P;MGC167090;cTAGE-15 CTAGE family, member 15, pseudogene;CTAGE6-like;cTAGE family member 15;cutaneous T-cell lymphoma-associated antigen 9;hypothetical protein LOC441294;protein cTAGE-9 APPROVED protein-coding ENSG00000271079 HGNC:37295 17404 VALIDATED 4144904 CTAGE10P CTAGE family, member 10, pseudogene 13 13 13 q14.2 31519272 31522243 + 50464545 50467516 + 49890409 49893380 + 10737800;12477932;21890473 220429 ABBA01051027;AL136123;AMYH02028016;BC030655;BI463404;NR_003268 Hs.448219 pseudo ENSG00000181358 HGNC:37288 VALIDATED 1343019 CTAGE3P CTAGE family, member 3, pseudogene INTERACTS WITH cobalt dichloride 13 13 13 q14.3 33530595 33533334 - 52481956 52484889 - 51907820 51910753 - 1580863;6480464 11149944;12839582 220112 Q8IX95 ABBA01051051;AF338231;AL162377;AMYH02028038;NG_006514 AAN77608;Q8IX95 Hs.623891 CTAGE-3;CTAGE3 APPROVED pseudo HGNC:24348 608857 INFERRED 5132828 CTAGE16P CTAGE family, member 16, pseudogene 13 13 13 q21.1 40060653 40063183 + 59102749 59105279 + 58528615 58531145 + 341689 ABBA01037007;AL161423;AL162716;AMYH02028122;CH471124;NG_022898 EAW52063 pseudo HGNC:41967 INFERRED 1344677 CTAGE7 CTAGE family, member 7 414233 HGNC:25111 1342835 CTAGE7P CTAGE family, member 7, pseudogene 10 10 10 q26.3 125577274 125580343 + 131904273 131907102 + 130106009 130108838 + 737633 12477932 16201836 119437 ABBA01009125;AL139123;AMYH02024042;BC036527;NR_044994 Hs.620802 CTAGE7;CTAGEP;MGC33437;bA500G10.2;rcCTAGE5 APPROVED pseudo ENSG00000233122 HGNC:25111 VALIDATED 7246797 CTAGE8 CTAGE family, member 8 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog) 7 7 q35 143963767 143966877 - 144266674 144269784 - 6480464 12853948;15146197;9847074 100142659 P0CG41;Q8IX94 ABBA01000976;AC004889;AC245175;AI274481;AK292236;CB529778;CN429509;NM_001278507 BAF84925;NP_001265436;P0CG41 Hs.661442;Hs.720693 1854569 G27651 CTAGE family member;CTAGE family, member 4 pseudogene;Cutaneous T-cell lymphoma-associated antigen 8;Protein cTAGE-8;cTAGE family member 8 protein-coding ENSG00000244693 HGNC:37294 VALIDATED 2816814 CTAGE9 CTAGE family, member 9 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog) 6 6 6 q23.2 132776224 132778800 - 132029581 132032157 - 131708441 131711017 - 6480464 11181995;12477932;12839582;12853948;9847074 643854 A4FU28 ABBA01025889;AC005587;AL135904;AMYH02014495;BC101322;CH471051;CN272092;DB518866;NG_033982;NM_001145659 A4FU28;AAD05194;AAI01323;CAB99213;EAW48047;NP_001139131 Hs.632613 CTAGE family, member 4-like;OTTHUMP00000045615;cTAGE family member 9;cutaneous T-cell lymphoma-associated antigen 9;protein cTAGE-9 protein-coding ENSG00000236761 HGNC:37275 VALIDATED 7383812 CTBP1-AS CTBP1 antisense RNA 4 4 4 p16.3 1136919 1145389 + 1203908 1212379 + 1210120 1218591 + 14702039;23644382 285463 ABBA01019360;AC092535;AK092548;AMYH02008576;AX747592;NR_104331 Hs.707614 PCAT10 ncrna HGNC:48337 VALIDATED 1347858 CTAGE6 CTAGE family, member 6 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog) 7 7 7 q35 138576640 138578081 + 143452182 143454843 - 143755089 143757750 - 737633;1580863;6480464 12477932 15489334 340307 Q86UF2 ABBA01000150;AC106862;AMYH02016968;BC043153;BC101323;BC101324;BC110410;CH236959;NM_178561 AAI01324;AAI01325;NP_848656;Q86UF2 Hs.676333 CTAGE6P;MGC41943 CTAGE family, member 6, pseudogene;cTAGE family member 6;cutaneous T-cell lymphoma-associated antigen 6;protein cTAGE-6;putative protein cTAGE-6 APPROVED protein-coding ENSG00000271321 HGNC:28644 VALIDATED 2902962 CTBP2P1 C-terminal binding protein 2 pseudogene 1 Y Y Y q12 1 290 + 59001390 59002317 + 56855243 56856170 + 12815422;9847074 352905 AC025226;NG_002808 pseudo HGNC:23940 INFERRED 1342761 CTAGE4 CTAGE family, member 4 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; cisplatin; lithium chloride 7 7 7 q35 138513864 138516489 + 143880548 143883173 + 144183455 144186080 + 6480464;8554872 11149944;12477932;12839582;12853948;17207965;9847074 100128553 Q8IX94 AC004889;AC245175;AF338232;BE272325;DB515636;DB727739;EL733901;NM_198495 AAN77609;NP_940897;Q8IX94 Hs.645204;Hs.720693 1854569 G27651 cTAGE-4 OTTHUMP00000212564;cTAGE family member 4;cutaneous T-cell lymphoma-associated antigen 4;cutaneous-T-cell-lymphoma-specific tumor antigen 4 protein-coding ENSG00000225932 HGNC:24772 608910 VALIDATED 1351524 CTAGE5 CTAGE family, member 5 The protein encoded by this gene is a tumor-associated antigen found in cutaneous T-cell lymphoma and several other cancers. Autoantibodies against the encoded protein have been found in some cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 14 14 14 q13.3 19599121 19684807 + 39734476 39820397 + 39265272 39351193 + 1580863;6480464;8554872 11149944;11472066;11803467;12477932;12839582;14702039;15174051;15489334;16344560;17081983;17474147;18029348;19946888;20467438;20838928;21525241;21890473;21988832;23054591;24722188;8889548;9356211 4253 G3V3C4;G3V5K6;O15320;Q4G155;Q59FD2 AA731729;AB209528;ABBA01061552;ABBA01061553;AF338233;AF338234;AI521895;AK055791;AK091252;AK298935;AK315254;AL132639;AL832233;AL833415;AMYH02029052;AMYH02029053;AMYH02029054;AMYH02029055;AMYH02029056;AMYH02029057;AW451965;BC029513;BC039017;BC051363;BC064355;BM929588;BQ424957;BX367676;BX640994;BX648014;CD102996;CD512382;CH471078;CV809109;DA072098;NG_030349;NM_001247988;NM_001247989;NM_001247990;NM_005930;NM_203354;NM_203355;NM_203356;U73682;U94780;XM_005267646;XM_005267647;XM_005267648;XM_005267649;XM_005267650;XM_006720148 AAB86589;AAB86593;AAH29513;AAH39017;AAH51363;AAH64355;AAN77610;AAN77611;ADR82743;BAD92765;BAG52318;BAG61038;CAE45997;EAW65804;EAW65805;EAW65806;EAW65807;EAW65808;EAW65809;EAW65810;EAW65811;EAW65812;EAW65813;EAW65814;EAW65815;EAW65816;NP_001234917;NP_001234918;NP_001234919;NP_005921;NP_976229;NP_976230;NP_976231;O15320;XP_005267703;XP_005267704;XP_005267705;XP_005267706;XP_005267707;XP_006720211 Hs.509200;Hs.540038;Hs.741763 1687546;1854569;2135278;2183516;5125049 G27651;G36136;RH80731;RH93939;STS-T59353 MEA6;MGEA;MGEA11;MGEA6 OTTHUMP00000178900;OTTHUMP00000178901;OTTHUMP00000178902;OTTHUMP00000178903;OTTHUMP00000244235;OTTHUMP00000244236;OTTHUMP00000244237;OTTHUMP00000244313;cTAGE family member 5;cutaneous T-cell lymphoma-associated antigen 5;meningioma expressed antigen 6 (coiled-coil proline-rich);meningioma-expressed antigen 6/11;protein cTAGE-5 APPROVED protein-coding ENSG00000150527 HGNC:7057 03680 602132 REVIEWED 732729 CTBP1 C-terminal binding protein 1 This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 4 4 4 p16 1138238 1175924 - 1205228 1242908 - 1211440 1249120 - 1580863;6480464;6484113;6907045 10196224;10359772;10369679;10438528;10567582;10764811;10766745;10995736;11022042;11313276;11328817;11373277;11462050;11509661;11568182;11583618;11590170;11739372;11864595;11959865;12052894;12082639;12372828;12419229;12444977;12477932;12535528;12565893;12679040;12700765;12711682;12714599;12769861;12829790;12867035;12878208;14567915;14645520;14701752;15060175;15188402;15489334;15525529;15542832;15592428;15705784;15708980;15831101;15834423;15897867;16036112;16061479;16079794;16122695;16140033;16287852;16292346;16481748;16510875;16547505;16609867;16702210;16713569;16740659;16762039;16787403;16804902;16840720;17028196;17130829;17157814;17213307;17379597;17431394;17538025;17546044;17662696;17967884;17972916;18029348;18086895;18184656;18212045;18323776;18354494;18374649;18524818;18625718;18765668;19103759;19136938;19162039;19188451;19216735;19242095;19322201;19450512;19460752;19486893;19505873;19506021;19690890;19744932;19751731;19754958;19851296;20198315;20211142;20237496;20361981;20547759;20800578;20818429;20835243;20964627;21044950;21139048;21532573;21665989;21681822;21890473;21900206;21903422;21906983;21963094;21988832;22301782;22505724;22990118;23000965;23097625;23291169;23303449;23385593;23707407;23716697;23747199;23752268;23756565;23824909;23864635;23907728;23940047;24250222;24280726;24657618;24722188;24732800;24816145;24850914;7479821;8440238;9479502;9535825;9650586;9824164;9858600 1487 D6RAX2;E7EPF8;E7ESU7;E7EUB3;E9PGB1;H0Y8U5;H0Y8W7;H0Y913;H0Y9M9;Q13363;X5D8Y5 ABBA01019360;AC092535;AF091555;AL137653;AMYH02008576;AMYH02008577;AMYH02008578;BC011655;BC053320;BC064333;BC072021;BC098400;BM989059;BU553431;CH471131;KJ534818;KJ535006;KJ535043;KJ535050;KJ535065;KJ535066;KJ535067;NM_001012614;NM_001328;U37408;XM_005272261;XM_005272262;XM_005272263 AAC62822;AAD14597;AAH11655;AAH53320;AAH72021;AAH98400;AAY40989;ABM82844;ABM86028;AHW56458;AHW56645;AHW56682;AHW56689;AHW56704;AHW56705;AHW56706;CAB70861;EAW82599;EAW82600;EAW82601;EAW82602;NP_001012632;NP_001319;Q13363;XP_005272318;XP_005272319;XP_005272320 Hs.208597 1645295;1730966;1764835;1769862;1785162;5110712;7184758 D4S115;RH18046;RH41962;SHGC-148396;SHGC-156143;SHGC-35677 BARS;MGC104684 C-terminal-binding protein 1;OTTHUMP00000113364;OTTHUMP00000217684;OTTHUMP00000217687;brefeldin A-ribosylated substrate APPROVED protein-coding ENSG00000159692 HGNC:2494 04015 602618 REVIEWED 7241611 CTBP2P5 C-terminal binding protein 2 pseudogene 5 2 2 2 p16.3 48983048 48984370 - 49142404 49143726 - 48915265 48916587 - 646936 ABBA01075199;AC007189;AMYH02003786;NG_021499 1725373 RH119004 pseudo HGNC:45197 INFERRED 1604255 CTBP1-AS2 CTBP1 antisense RNA 2 (head to head) INTERACTS WITH cobalt dichloride; copper(2+) sulfate; cyclosporin A 4 4 4 p16.3 1176244 1179811 + 1243228 1246795 + 1249440 1253007 + 6480464 12477932;14702039;16189514;22456796 92070 Q96CW7 ABBA01019361;AC092535;AI523678;AK056133;AK125775;AL390154;AMYH02008578;BC013775;BC111466;BC120947;BC120948;CB070110;NR_033339 AAH13775;AAI11467;AAI20948;AAI20949;AAY40990;BAC86283 Hs.561314 1644319;1649309;1847978;5037552;5037554 D8S2279;D8S2282;G41961;SHGC-59167;WI-22145 C4orf42;CTBP1-AS1;MGC149426;MGC149427;MGC21675 APPROVED ncrna HGNC:28307 14480 VALIDATED 7241773 CTBP2P3 C-terminal binding protein 2 pseudogene 3 18 18 18 q21.32 55048269 55049600 + 58330272 58331603 + 60663039 60664370 + 220147 ABBA01056178;AC010928;AMYH02034850;NG_022494 pseudo HGNC:45195 INFERRED 7241776 CTBP2P4 C-terminal binding protein 2 pseudogene 4 5 5 5 q15 93796149 93797065 + 97912045 97912961 + 98576341 98577257 + 642909 ABBA01069209;AC022142;AMYH02011844;NG_021892 pseudo HGNC:45196 INFERRED 7250018 CTBP2P2 C-terminal binding protein 2 pseudogene 2 10 10 10 q23.33 90146206 90147838 - 96406120 96407753 - 94646363 94647996 - 100130970 ABBA01021846;AL138759;AMYH02023576;NG_022155 pseudo HGNC:45194 INFERRED 7250337 CTBP2P8 C-terminal binding protein 2 pseudogene 8 1 1 1 66918084 66919360 - 68627440 68628716 - 68161757 68163033 - 100420253 ABBA01074511;AL513284;AMYH02001211;NG_026947 pseudo HGNC:45200 INFERRED 7241614 CTBP2P6 C-terminal binding protein 2 pseudogene 6 11 11 11 p11.2 43690493 43691781 + 43543526 43544814 + 43521976 43523264 + 120449 ABBA01060780;AC023085;AMYH02024675;NG_021815 pseudo HGNC:45198 INFERRED 68535 CTBP2 C-terminal binding protein 2 This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014] 10 10 10 q26.13 120450227 120623304 - 126676418 126849624 - 124987849 125161055 - 1580863;6480464;6907045 10359772;10438528;10567582;10756197;10764811;10801815;11163272;11504872;11864595;11940669;12477932;12535528;12556451;12700765;12711682;12714599;12867035;15060175;15146197;15231748;15489334;15542832;16189514;16356938;16385451;16508011;16702210;16713569;16762039;16787403;17023432;17546044;17635584;17967884;18184656;18264096;18794092;19240061;19318432;19366831;19423541;19486893;19506021;19549807;19668232;19754958;19798104;19866473;19900942;19902474;20363750;20379614;20450899;20460480;20523059;20547755;20547759;20564319;20690139;20717903;20878950;20964627;21057548;21071540;21139048;21315774;21334379;21532573;21665989;21832049;21890473;21903422;21906983;21963094;21988832;22505724;22797925;22863883;22945647;22990118;23000965;23254330;23255392;23393140;23410750;23602568;23730208;23775127;23853115;24012420;24522810;24654937;24657618;24722188;24816145;24835310;24850914;25027693;7479821;9479502;9724649;9858600 1488 P56545;Q5SQP8 ABBA01034161;AF016507;AF222711;AK290390;AL157888;AL596261;AL731571;AL833398;AMYH02023987;AMYH02023988;AMYH02023989;AMYH02023990;AMYH02023991;BC002486;BC037900;BC047018;BC052276;BC072020;BQ933925;BT007012;CH471066;CN353451;DB197732;DQ250324;NM_001083914;NM_001290214;NM_001290215;NM_001329;NM_022802;XM_005269561;XM_005269562;XM_005269563;XM_005269564;XM_005269565;XM_005269567;XM_005269568;XM_005269569;XM_005269570;XM_005269571;XM_005269572;XM_006717641;XM_006717642;XM_006717643 AAC39603;AAG45951;AAH02486;AAH37900;AAH47018;AAH52276;AAH72020;AAP35658;ABB82238;BAF83079;CAH10590;EAW49247;EAW49249;EAW49250;NP_001077383;NP_001277143;NP_001277144;NP_001320;NP_073713;P56545;XP_005269618;XP_005269619;XP_005269620;XP_005269621;XP_005269622;XP_005269624;XP_005269625;XP_005269626;XP_005269627;XP_005269628;XP_005269629;XP_006717704;XP_006717705;XP_006717706 Hs.501345 1651060;1686690;1724611;2113104;2113106;2119183;2132095;5113787 D10S2461;D10S2462;D20S789;RH121303;RH36796;RH79776;SGC34798;STS-W86518 C-terminal-binding protein 2;OTTHUMP00000020699;OTTHUMP00000020700;OTTHUMP00000020701;OTTHUMP00000235908;OTTHUMP00000235909;OTTHUMP00000235910;ribeye APPROVED protein-coding HGNC:2495 04016 602619 REVIEWED 7241731 CTBP2P7 C-terminal binding protein 2 pseudogene 7 19 19 19 q13.12 33772744 33773990 - 36987818 36989064 - 36496916 36498162 - 401914 ABBA01016205;AC092295;AMYH02036018;NG_021748 pseudo HGNC:45199 INFERRED 733105 CTCF CCCTC-binding factor (zinc finger protein) This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 16 16 16 q21-q22.3 52104229 52181578 + 67596310 67673088 + 67562407 67639185 + 1580863;6480464;8699517;7240710;8554872 10458613;10625678;10734189;10839546;10839547;10906122;11525835;11743158;11748221;11782357;11827452;11971967;11997516;12054881;12075007;12099698;12191639;12203779;12417987;12461525;12477932;12524457;12787766;12878173;12960026;14503807;14645507;14645543;14702039;14716017;14759373;15084242;15096508;15229244;15304340;15361875;15454938;15471867;15489334;15669143;15670593;15731119;15941718;15958555;16107875;16140944;16230345;16344560;16595548;16731911;16815976;16949368;16989720;17081983;17210645;17218270;17267480;17382889;17583694;17603073;17827499;18021171;18207574;18219272;18235444;18237772;18347100;18413740;18550811;18604514;18654629;18662993;18923423;19008940;19056695;19060911;19074263;19158269;19247430;19322193;19369356;19450526;19471022;19505873;19513555;19568426;19584098;19644448;19737964;19818655;19922652;19956589;20038529;20051228;20101205;20110362;20133600;20196073;20360068;20404925;20427289;20478995;20584980;20610384;20733034;20877461;20966046;21139048;21145461;21296871;21325284;21444719;21536749;21550623;21663659;21693764;21880767;21884934;21890473;21912613;21964334;21970734;22072770;22142239;22247490;22286186;22347474;22354964;22422629;22487828;22538856;22586326;22615834;22791747;22879976;22939629;22944692;22952237;23000965;23192870;23204437;23553099;23620300;23706817;23746550;23843455;23874213;23884423;23908591;24023969;24130125;24174344;24257606;24321385;24335803;24393203;24457600;24561205;24614316;24659782;24725430;24816145;8649389;9407128;9591631 10664 P49711 AA814313;AB209793;ABBA01025441;ABBA01025442;ABBA01025443;ABBA01025444;ABBA01025445;ABBA01025446;ABBA01025447;ABBA01025448;AC009095;AC027682;AF145477;AI753629;AK093395;AK314804;AMYH02032234;AMYH02032235;AMYH02032236;AMYH02032237;AMYH02032238;BC014267;BT009915;CH471092;CQ834784;DB229066;NG_033892;NM_001191022;NM_006565;U25435;XM_005255775 AAB07788;AAF31318;AAH14267;AAP88917;ABM86760;ABW03820;BAD93030;BAG52706;CAH05607;EAW83142;EAW83143;EAW83144;EAW83145;EAW83146;NP_001177951;NP_006556;P49711;XP_005255832 Hs.368367 1335231;1341713;1646684;1657321;1667265;1682738;1728945;1783530;2125221;2217210;5105887 CTCF_3772;Ctcf;D16S3085;D16S3107;RH68791;RH80821;SHGC-151259;SHGC-152529;SHGC-3332;SHGC-60657;WI-21064 MRD21 11 zinc finger transcriptional repressor;11-zinc finger protein;CTCFL paralog;OTTHUMP00000174843;OTTHUMP00000197610;transcriptional repressor CTCF APPROVED protein-coding ENSG00000102974 HGNC:13723 05005 604167;615502 REVIEWED 1352600 CTD Coats disease ASSOCIATED WITH Retinal Telangiectasis (inferred) 7240710 1283 HGNC:2497 300216 1604790 CTC1 CTS telomere maintenance complex component 1 This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012] 17 17 17 p13.1 8156583 8180276 - 8128139 8151413 - 8224821 8248095 - 6480464;8699517;8554872 10737800;12477932;14702039;16344560;19119139;19854130;19854131;20360068;21906983;21963094;22267198;22387016;22532422;22658654;22763445;22863775;23001564;23869908;24115768;8125298 80169 J3KSR1;J3KSZ1;J3QKT7;Q2NKJ3 ABBA01054904;ABBA01054905;ABBA01054906;AC135178;AK025823;AK091077;AK225375;AK310636;AL831955;AMYH02032923;BC026057;BC110373;BC111783;BF798182;BU631459;BX406692;CH471108;DA313518;DB126489;DQ451688;FJ790670;HG508640;KF456245;NG_032148;NM_025099;NR_046431;XM_006721577;XM_006721578;XM_006721579;XR_429823;XR_429824;XR_429825 AAH26057;AAI10374;AAI11784;ABE02809;ACY71127;BAB15247;BAG52278;CAD38600;EAW90070;EAW90071;NP_079375;Q2NKJ3;XP_006721640;XP_006721641;XP_006721642 Hs.156055 1690087;2118689;2123766;2145580 D17S1556;D17S1773;G18003;RH18359 AAF-132;AAF132;C17orf68;CRMCC;FLJ22170;MGC133331;RP11-849F2.8;tmp494178 CST complex subunit CTC1;HBV DNAPTP1-transactivated protein B;alpha accessory factor 132;conserved telomere capping protein 1;conserved telomere maintenance component 1 APPROVED protein-coding HGNC:26169 07980 612199;613129 REVIEWED 1313770 CTDSP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 2 2 2 q35 213031099 213037286 + 219263061 219270664 + 218398338 218405941 + 1580863;6480464;6484113 10967134;11950066;12477932;12721286;14743429;15489334;15681389;16189514;17085434;19004823;19913121;20222012;20628086;21239611;21348431;21906983;23128233;24250222;24769477 58190 H7C1Z7;H7C270;H7C3E0;Q9GZU7 ABBA01023870;ABBA01023871;AC021016;AF217969;AF229162;AF229163;AF258582;AK075090;AMYH02005791;AMYH02005792;AX017844;AX017988;AY279529;AY279530;BC012977;BX424971;BX446444;CH471063;NG_030418;NM_001206878;NM_021198;NM_182642 AAG15402;AAG15404;AAG17212;AAG23785;AAH12977;AAP34397;AAP34398;ABZ92407;EAW70615;EAW70616;EAW70617;EAW70618;NP_001193807;NP_067021;NP_872580;Q9GZU7 Hs.444468 2143201;2161527 RH12082;WI-12463 NIF3;NLI-IF;NLIIF;SCP1 NLI-interacting factor 3;OTTHUMP00000164141;OTTHUMP00000207171;OTTHUMP00000207173;OTTHUMP00000207174;carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1;nuclear LIM interactor-interacting factor 3;small C-terminal domain phosphatase 1;small CTD phosphatase 1 APPROVED protein-coding ENSG00000144579 HGNC:21614 05615 605323 REVIEWED 1351227 CTBS chitobiase, di-N-acetyl- Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010] 1 1 1 p22 83262703 83284058 - 85018804 85048039 - 84553121 84574480 - 728411;1580863;6480464 1549114 10336991;11907625;12477932;15252009;1527079;16502470;16794344;19322201;2531691;2751306;7606925 1486 F6X5H7;Q01459;Q8TC97 ABBA01045653;AF085706;AI339601;AK075423;AK298703;AK314640;AL359762;AMYH02001377;BC024007;BC065191;BC096752;BC126333;BC126335;CH471097;M95767;NM_004388 AAA35684;AAC35852;AAH24007;AAH96752;AAI26334;AAI26336;BAG37202;BAG52135;BAG60860;EAW73230;EAW73231;EAW73232;EAW73233;NP_004379;Q01459 Hs.513557 1661556;1767885;2118156;2164951;2169361;2175015;2219062 CTBS__4649;RH17760;RH70725;SHGC-12406;SHGC-75066;SHGC-75075;WI-11830 CTB OTTHUMP00000011569;OTTHUMP00000011570;di-N-acetylchitobiase APPROVED protein-coding HGNC:2496 02927 600873 VALIDATED 1323374 CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] 18 18 18 q23 74215047 74287164 + 77439801 77514510 + 79679801 79754510 + 1580863;6480464;7240710;8554872;8699517 10385623;10439962;10938286;11273209;11818576;12036313;12185079;12370301;12477932;12560496;12578358;12591939;12591941;12676794;12721286;12732728;14517542;14576433;14702039;15201869;15282305;15302935;15489334;15670829;15723517;15893730;16109377;16239144;16964243;17081983;17643375;18029348;18187620;18294453;18562274;18854154;19215094;19255092;19888685;19914168;20301787;21252943;21450944;21672523;21906983;22692537;22952844;23212062;24816145;9159119;9405607;9765293;9822634 9150 K7EJD2;K7EPW4;Q9Y5B0 AA282312;ABBA01013895;AC021594;AC068473;AF081287;AF154115;AK123180;AMYH02035066;BC015010;BC032515;BC047999;BC052576;BC063447;BM512113;BX103692;CF593225;CH471117;DB451780;DB517021;DR001939;NG_007988;NM_001202504;NM_004715;NM_048368;XM_005266782;XM_006722574 AAC64549;AAD42088;AAH15010;AAH52576;AAH63447;EAW66628;EAW66629;EAW66630;EAW66631;EAW66632;NP_001189433;NP_004706;NP_430255;Q9Y5B0;XP_005266839;XP_006722637 Hs.465490;Hs.734021 1341670;1685814;1739217;1776084;1783684 D18S1015;D18S1141;D18S1268;RH98831;SHGC-145820 CCFDN;FCP1 CTD of POLR2A, phosphatase of, subunit 1;OTTHUMP00000163841;OTTHUMP00000163842;RNA polymerase II subunit A C-terminal domain phosphatase;TFIIF-associating CTD phosphatase 1;serine phosphatase FCP1a;transcription factor IIF-associating CTD phosphatase 1 APPROVED protein-coding ENSG00000060069 HGNC:2498 05377 604168;604927 REVIEWED 1342553 CTDSP2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 ENCODES a protein that exhibits CTD phosphatase activity; INVOLVED IN protein dephosphorylation; PARTICIPATES IN Bone morphogenetic proteins signaling pathway; FOUND IN nucleoplasm (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; benzo[a]pyrene diol epoxide I 12 12 12 q14.1 57871630 57898666 - 58213710 58240747 - 57819927 57846964 - 1580863;6480464;6484113 12477932;12721286;15146197;15489334;16344560;16724108;16751776;17085434;17207965;19004823;23000965;8090779;8673473;9315096 10106 F8VYL0;F8W184;F8W1I1;H0YI12;H0YI29;O14595 ABBA01026693;AC083805;AC121759;AF000152;AF022231;AK226076;AK291289;AK294930;AK310183;AK310873;AK312413;AMYH02026597;AY279531;BC018922;BC065920;CH471054;CN313995;DB001093;NM_005730;U81556;XM_005268556 AAB39318;AAB71816;AAD09331;AAH65920;AAP34399;ADQ32530;BAF83978;BAG58009;EAW97081;EAW97082;EAW97083;EAW97084;EAW97085;EAW97086;EAW97087;EAW97088;EAW97089;NP_005721;O14595;XP_005268613 Hs.524530 2118958;5124546 RH45075;RH67816 OS4;PSR2;SCP2 NLI-interacting factor 2;OTTHUMP00000243916;OTTHUMP00000243921;carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2;conserved gene amplified in osteosarcoma;nuclear LIM interactor-interacting factor 2;protein OS-4;small C-terminal domain phosphatase 2;small CTD phosphatase 2 protein-coding ENSG00000175215 HGNC:17077 12281 608711 VALIDATED 1345284 CTDSPL CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like ENCODES a protein that exhibits metal ion binding (inferred); phosphatase activity (inferred); phosphoprotein phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); PARTICIPATES IN Bone morphogenetic proteins signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; arachidonic acid 3 3 3 p21.3 37838040 37960332 + 37903669 38025960 + 37862153 37984469 + 1580863;6480464;6484113 10617616;11145967;11278802;11572868;11884399;12052871;12543795;12721286;14645848;15009212;15051889;17085434;17903305;19004823;19016758;19047128;19056867;19140316;19322201;19478941;19885927;20193080;20379614;20412120;21139048;21643017;9179494 10217 F8WED2;H7C2B9;H7C2S4;H7C353;O15194 ABBA01024840;ABBA01024841;AC093415;AC105752;AI143812;AI192993;AJ575644;AJ575645;AMYH02006562;AMYH02006563;AMYH02006564;AY279532;AY364238;CH471055;D88153;NM_001008392;NM_005808;XM_006712922;XM_006712923 AAI66643;AAP34400;AAQ76797;BAA21667;CAE11804;CAE11805;EAW64502;EAW64503;EAW64504;EAW64505;NP_001008393;NP_005799;O15194;XP_006712985;XP_006712986 Hs.475963 1645272;1661327;1663061;1664241;1674636;1707652;1760267;1778877;2112648;2112666;2128870;2132876;2137284;2140268;2162367;2178636;2217212;5019817;5093810 A009X11;A009X46;CTDSPL_3523;D3S3077;D3S4237;D3S4385;D3S4393;G29265;G32937;G32964;RH12233;RH16286;RH36200;RH44586;SHGC-132579;SHGC-33953;SHGC-34330;SHGC-36278;SHGC-81988 C3orf8;HYA22;PSR1;RBSP3;SCP3 CTD small phosphatase-like protein;CTDSP-like;NIF-like protein;NLI-interacting factor 1;OTTHUMP00000208947;OTTHUMP00000208948;RB protein serine phosphatase from chromosome 3;carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 3;nuclear LIM interactor-interacting factor 1;small C-terminal domain phosphatase 3;small CTD phosphatase 3 protein-coding ENSG00000144677 HGNC:16890 608592 VALIDATED 1313529 CTCFL CCCTC-binding factor (zinc finger protein)-like CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 20 20 20 q13.31 52812617 52840546 - 56071021 56100708 - 57495965 57525652 - 1580863;6480464;8554872 11780052;12011441;12191639;12477932;14578343;15489334;16140944;16854382;17048991;17062669;17260018;17363524;17428394;17957795;17962299;18029348;18095639;18195709;18413740;18467432;18632606;18765639;19675668;20305816;20339536;20438700;20649179;21034534;21079786;21296871;21325284;21495859;21558405;21811597;21874228;22168535;22223638;22676270;22724006;22792300;23237599;23251661;23300278;23390377;23553099;23955684;24123052;24279897;24483146;24984200 140690 A6XGM0;A6XGM9;F5H2V8;Q8NI51;V9GY73;V9GYX4;V9GZ46 ABBA01052928;AF336042;AK128070;AK313990;AL035541;AL160176;AMYH02037354;AMYH02037355;AW243377;AY071919;BC060763;BC130486;BC137482;BC137483;CH471077;DQ294738;DQ778108;DQ778109;DQ778110;DQ778111;DQ778112;DQ778113;DQ778114;DQ778115;DQ778116;DQ778117;DQ778118;DQ778119;DQ778120;DQ778121;DQ778122;DQ778123;DQ778124;DQ778125;DQ778126;DQ778127;DQ778128;DQ778129;DQ778130;DQ778131;NM_001269040;NM_001269041;NM_001269042;NM_001269043;NM_001269044;NM_001269045;NM_001269046;NM_001269047;NM_001269048;NM_001269049;NM_001269050;NM_001269051;NM_001269052;NM_001269054;NM_001269055;NM_080618;NR_072975 AAI30487;AAI37483;AAI37484;AAL61541;AAM28645;ABB92839;ABH10090;ABH10091;ABH10092;ABH10093;ABH10094;ABH10095;ABH10096;ABH10097;ABH10098;ABH10099;ABH10100;ABH10101;ABH10102;ABH10103;ABH10104;ABH10105;ABH10106;ABH10107;ABH10108;ABH10109;ABH10110;ABH10111;ABH10112;ABH10113;BAG36702;BAG54626;EAW75516;EAW75517;EAW75518;NP_001255969;NP_001255970;NP_001255971;NP_001255972;NP_001255973;NP_001255974;NP_001255975;NP_001255976;NP_001255977;NP_001255978;NP_001255979;NP_001255980;NP_001255981;NP_001255983;NP_001255984;NP_542185;Q8NI51 Hs.131543 1699778;1728695;5020635 D7S3207;G63719;RH103496 CT27;CTCF-T;HMG-1L1;HMGB1L1;MGC163358;MGC169105;MGC169106;dJ579F20.2 BORIS;BORIS-like protein;CTCF paralog;CTCF-like protein;OTTHUMP00000031376;OTTHUMP00000174287;brother of the regulator of imprinted sites;cancer/testis antigen 27;putative high mobility group protein 1-like 1;putative high mobility group protein B1-like 1;transcriptional repressor CTCFL;zinc finger protein CTCF-T APPROVED protein-coding ENSG00000124092 HGNC:16234 09512 607022 REVIEWED 1320917 CTDNEP1 CTD nuclear envelope phosphatase 1 ENCODES a protein that exhibits protein serine/threonine phosphatase activity; INVOLVED IN nuclear envelope organization; positive regulation of triglyceride biosynthetic process; protein dephosphorylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; endoplasmic reticulum membrane; Nem1-Spo7 phosphatase complex; INTERACTS WITH atrazine; cyclosporin A; disodium selenite 17 17 17 p13 7171550 7179904 - 7146906 7155259 - 7243587 7251940 - 1580863;6480464;8554872 12083771;12477932;17141153;17157258;17420445;21139048;21413788;22134922;24250222 23399 D3DTN6;I3L0X6;I3L1D9;I3L2R5;I3L3K5;I3L4B2;I3L4W0;O95476 ABBA01054856;AC003688;AC120057;AJ011916;AMYH02032896;AY364239;BC009295;CH471108;NM_001143775;NM_015343 AAH09295;AAQ76798;ABM84056;ABM87408;CAA09865;EAW90233;EAW90235;EAW90236;EAW90237;EAW90239;NP_001137247;NP_056158;O95476 Hs.513913 1678137 RH79691 HSA011916;NET56 C-terminal domain nuclear envelope phosphatase 1;DULLARD;OTTHUMP00000128375;dullard homolog;serine/threonine-protein phosphatase dullard APPROVED protein-coding ENSG00000175826 HGNC:19085 16845 610684 VALIDATED 1348096 CTGLF11P centaurin, gamma-like family, member 11 pseudogene ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred) 10 10 10 q11.22 42171981 42194001 + 47708453 47730242 + 46337224 46359023 + 15164054 653259 A8MT82 AC244230;AL603965;NG_005806 A8MT82 bA145E20.1 pseudo HGNC:23660 INFERRED 1350898 CTF1 cardiotrophin 1 The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 16 16 16 p11.2 29382737 29389814 - 30907928 30914881 + 30896607 30903560 + 1580863;1626411;1626410;6480464;6907045;8554872 11058912;15716706 11030335;11834704;12234945;12477932;12707269;15219667;15339920;15489334;17483238;17940213;17979974;18609050;19155793;19273604;19913121;20053569;20224758;20474083;20628086;20683337;20686565;21572008;21771897;21832049;22418690;23856329;23935888;24054317;24097068;24344663;24366078;7738033;7862649;8755479;8833032 1489 Q16619 ABBA01042067;ABBA01042068;ABBA01042069;AC135048;AMYH02031835;BC036787;BC049822;BC064416;CH471192;NG_009171;NM_001142544;NM_001330;U43030;U43033 AAA85229;AAD12173;AAH36787;AAH64416;EAW52192;NP_001136016;NP_001321;Q16619 Hs.483811 1681662;1689089;2124748 D16S3338;RH69935;RH70630 CT-1;CT1 OTTHUMP00000163250;cardiophin 1;cardiotrophin-1 APPROVED protein-coding ENSG00000150281 HGNC:2499 02699 600435 REVIEWED 1348672 CTGLF10P centaurin, gamma-like family, member 10 pseudogene 10 10 10 q11.22 42172069 42193908 + 46174140 46195991 + 45678692 45700543 + 653234 AL445201;AMYH02022736;NG_005805 bA358L16.1 pseudo HGNC:23659 INFERRED 1602017 CTF2P cardiotrophin 2, pseudogene The cytokine neuropoietin belongs to the IL-6 superfamily. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Mar 2013] 16 16 16 p11.2 29376085 29381949 + 30915569 30921629 - 30904248 30910308 - 15051883;18085818;20210993;20686565;24097068 100289419 ABBA01042069;AC135048;AMYH02031835;AY518206;NG_033188 1684042 RH48534 NP APPROVED pseudo ENSG00000230447 HGNC:33173 INFERRED 1353769 CTGLF8P centaurin, gamma-like family, member 8 pseudogene 10 10 q11.22 42172068 42188156 + 46717127 46733199 - 12477932 728608 AL450334;NG_005864 KIAA0187;bA556L1.5 pseudo HGNC:23461 INFERRED 1605073 CTDSPL2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 ENCODES a protein that exhibits phosphoprotein phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); INTERACTS WITH 17beta-estradiol; atrazine; copper(2+) sulfate 15 15 15 q15.3-q21.1 21609344 21709186 + 44719579 44819455 + 44427381 44527257 + 6480464 11042152;12477932;14702039;16344560;19322201;20932329;21139048;21890473;23000965;24250222 51496 H0YMB4;H0YMH7;H0YNU2;H0YNW9;Q05D32 ABBA01039206;ABBA01039207;ABBA01039208;AC009996;AC025043;AC025430;AF161478;AF161543;AK001385;AK226094;AK291230;AMYH02030340;AMYH02030341;AX405886;AY364237;BC018623;BC035744;CH471082;CR627421;DA995235;DQ128104;NM_016396;XM_005254441;XM_006720565;XM_006720566;XR_429454;XR_429455 AAF29030;AAF29093;AAH18623;AAH35744;AAQ76796;AAZ42188;ABM85014;ABW03674;BAA91664;BAF83919;CAD34993;CAH10508;EAW77265;EAW77266;NP_057480;Q05D32;XP_005254498;XP_006720628;XP_006720629 Hs.497967 1338931;1339036;1689145;1708418;1748403;2109411;2163441 C87309;D15S182;D15S537;D15S798;HSPC129_9725;RH80528;SHGC-83497 FLJ10523;HSPC058;HSPC129 CTD small phosphatase-like protein 2;CTDSP-like 2;OTTHUMP00000161810 protein-coding ENSG00000137770 HGNC:26936 13697 VALIDATED 1345513 CTGLF9P centaurin, gamma-like family, member 9 pseudogene 10 10 10 q11.22 42172260 42191491 + 48903537 48922780 - 46816582 46835825 + 728005 AL731733;NG_005807 bA548K23.1 pseudo HGNC:23499 INFERRED 1350681 CTGLF12P centaurin, gamma-like family, member 12 pseudogene 10 10 10 q11.22 42172068 42193901 + 49218157 49239658 - 48010132 48031640 - 12477932;14702039 414224 AC245041;AL603966;BC127745;NR_029396 Hs.645213 bA164N7.2 pseudo ENSG00000265018 HGNC:23661 VALIDATED 1354028 CTHM cono-truncal heart malformation ASSOCIATED WITH CONOTRUNCAL HEART MALFORMATIONS (inferred); DiGeorge Syndrome (inferred); Tetralogy of Fallot (inferred) 7240710 1492 HGNC:2502 187500;188400;192430;217095 732084 CTH cystathionine gamma-lyase This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010] 1 1 1 p31.1 69166835 69195464 + 70876901 70905534 + 70411218 70439851 + 1600763;1600761;1300048;1359024;6480464;6907045;7240710;7242427;8554872;8699517 12574942;15683713;20162368;9359866 10212249;12477932;1339280;15151507;15347670;15489334;16189514;16710414;17311259;18029348;18476726;18676680;18701025;18849566;18988749;19019829;19048631;19056867;19161160;19170196;19261609;19322201;19324355;19418582;19428278;19531479;19625176;19692168;19850743;19913121;19948975;20175737;20446008;20584029;20628086;20634891;20849728;21139048;21507721;21659522;21886822;21890473;21906983;21963094;21988832;22034194;22310774;22360859;22863883;23393010;23410520;23704251;24025145;24491890;24610811;24707893;8125298 1491 P32929 ABBA01074478;ABBA01074479;ABBA01074480;ABBA01074481;AK223376;AK303946;AK310269;AL354872;AMYH02001242;BC015807;BT006882;CH471059;DB466459;NG_008041;NM_001190463;NM_001902;NM_153742;S52028;S52784;XM_005270509 AAB24699;AAB24700;AAH15807;AAP35528;ACE86883;ACE87570;BAD97096;BAG64874;EAX06450;EAX06451;NP_001177392;NP_001893;NP_714964;P32929;XP_005270566 Hs.19904 1338628;1688628;2109203;2180663;7187898 CTH_8288;D1S501;RH65074;RH66843 MGC9471 OTTHUMP00000010945;OTTHUMP00000010946;cystathionase (cystathionine gamma-lyase);cysteine desulfhydrase;cysteine-protein sulfhydrase;gamma-cystathionase;homoserine deaminase;homoserine dehydratase APPROVED protein-coding ENSG00000116761 HGNC:2501 09633 219500;607657 REVIEWED 1350648 CTIF CBP80/20-dependent translation initiation factor CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009] 18 18 18 q21.1 42914746 43243180 + 46065427 46389588 + 48539056 48863217 + 1580863;6480464;8554872 12477932;14702039;15489334;18029348;19322201;19648179;20379614;21840310;23382691;23793025;24023788;24654937;8889548;9455477 9811 K7EK08;K7EPK6;K7EQS5;K7EQS9;O43310 AB007887;ABBA01018637;ABBA01018638;ABBA01018639;AC022919;AC048380;AC093567;AK095970;AMYH02034683;AMYH02034684;AMYH02034685;BC042146;BU688371;CH471096;KF456403;NM_001142397;NM_014772;XM_005258392;XM_006722583;XM_006722584;XM_006722585;XM_006722586;XM_006722587;XM_006722588;XM_006722589 AAH42146;BAA24857;BAG53180;EAW62925;EAW62926;EAW62927;EAW62928;NP_001135869;NP_055587;O43310;XP_005258449;XP_006722646;XP_006722647;XP_006722648;XP_006722649;XP_006722650;XP_006722651;XP_006722652 Hs.145230 1726629;1769916;1783672;1783730;2116705;2129096;2130545 G62549;RH36489;RH78693;SHGC-144764;SHGC-155204;SHGC-34708;WI-21880 Gm672;KIAA0427 OTTHUMP00000163491 APPROVED protein-coding ENSG00000134030 HGNC:23925 11083 613178 VALIDATED 1351108 CTM cataract, Marner ASSOCIATED WITH Cataract, zonular (inferred) 7240710 HGNC:2508 116800 1352911 CTHRC1 collagen triple helix repeat containing 1 This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] 8 8 8 q22.3 100570330 100581762 + 104383743 104395233 + 103371515 103383005 + 1580863;6480464;6484113;8699517;7240710 12477932;12975309;15340161;15489334;15618538;16778098;18467647;19730683;21791690;22590977;23222813;23274062;23359115;23658133;23703614;23922981;24370779;24746208 115908 E5RK99;E7EVQ5;Q96CG8 ABBA01037635;AC012213;AC069351;AF395488;AI743774;AK130063;AK300273;AMYH02018543;AY136825;AY358914;BC014245;BC021025;BI763295;CH471060;NG_031985;NM_001256099;NM_138455 AAH14245;AAN15749;AAO17919;AAQ89273;ADZ15686;BAG62033;EAW91874;EAW91875;EAW91876;NP_001243028;NP_612464;Q96CG8 Hs.405614 1697998 RH102528 OTTHUMP00000227821;OTTHUMP00000227823;collagen triple helix repeat-containing protein 1 APPROVED protein-coding ENSG00000164932 HGNC:18831 16772 610635;614266 REVIEWED 1345796 CTNNA1P1 catenin (cadherin-associated protein), alpha 1 pseudogene 1 5 5 5 q22 110673208 110676625 - 114724721 114728138 - 115389024 115392441 - 7601473;8404069 1498 ABBA01069033;AC091981;AMYH02012002;NG_001110;Z37994 1745749;2123250 GDB:633557;RH11437 CTNNAP1 APPROVED pseudo HGNC:2513 INFERRED 731013 CTGF connective tissue growth factor The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009] 6 6 6 q23.1 133016448 133019647 - 132269316 132272518 - 131948176 131951378 - 1580863;734846;2314476;2314483;2314489;2314507;2314511;2314512;2314513;2314517;2314529;2314535;2314537;2314539;2314603;2314604;2314607;2314612;1601118;2314473;2314488;2314516;632527;2314021;2314490;2314505;2314525;2314366;2314367;2314623;2314357;2314475;2315507;6480464;6484113 10679821;11237711;15172885;18167060;18790236;18987110;19080126;19112094;19154443;19234054;19293040;19366727;19369054;19371232;19381071;19382180;19395590;19450451;19463894;19570811;19582783;19602618;19659652;19670084;19707545;19730126;19743505;19820199;19856102;19895808;19902320 10204117;10350062;10457363;10614647;10809757;11101692;11502477;11532378;11697887;11744618;11751417;11818516;11855859;11897682;11967989;12016149;12036876;12114504;12150969;12217862;12218048;12239232;12297288;12398938;12470643;12477932;12496395;12535930;12553878;12571253;12595495;12668285;12760970;12787426;12811819;12831056;12888575;1293144;12941731;12951326;1334251;14512169;14574404;14585398;14633859;14684735;14702039;14758550;14988298;14996858;15003992;15039132;15041728;15045137;15053922;15090860;15111539;15113833;15135656;15247510;15298857;15345671;15377500;15459777;15526358;15536170;15598883;15703175;15761189;15761249;15820145;15857887;15940639;15941869;15950619;15956925;16044512;16186174;16204411;16247469;16255854;16270194;16291159;16344560;16373901;16457822;16482098;16501850;16528248;1654338;16543635;16571622;16684954;16731742;16790529;16813525;16820572;16858645;16877704;16889607;16899928;17093396;17116388;17119035;17170128;17192487;17215322;17224075;17239539;17239853;17375628;17393107;17399683;17399955;17437852;17441427;17498677;17550972;17579708;17580150;17602195;17622321;17657819;17671176;17673559;17681742;17765657;17786299;17876891;17881752;17908800;17915216;17922682;17944991;17951630;17951996;17996907;18029348;18080105;18172013;18212329;18245529;18264937;18266973;18287089;18292194;18319604;18344285;18358427;18395916;18400984;18451226;18481257;18596209;18622762;18628999;18639630;18648180;18676875;18683703;18783549;18787533;18805993;18835464;18836231;18846327;18922143;18922980;18936953;19016368;19054816;19054818;19069651;19096030;19153601;19179545;19208517;19210343;19218111;19233176;19243500;19247157;19253834;1925598;19277979;19298220;19301259;19322201;19333718;19378419;19409809;19429239;19453261;19485899;19494553;19549692;19565505;19589256;19625611;19641518;19657322;19670427;19673024;19724859;19730442;19762080;19764552;19764567;19789190;19822645;19850743;19861250;19863391;19890996;19893244;19895313;19922639;19955828;20004937;20015945;20018872;20032097;20032117;20050020;20053285;20056838;20117462;20162579;20180416;20201953;20222112;20237235;20237496;20238043;20305691;20453000;20522428;20522536;20576680;20613589;20628624;20660557;20685720;20689330;20697347;20731800;20814177;20840672;20966418;20971063;21054221;21071938;21081514;21098624;21166920;21209863;21236242;21245951;21245987;21265091;21349946;21352962;21424084;21455569;21484860;21501375;21503841;21548990;21558398;21569762;21576830;21609573;21609598;21611193;21629692;21654839;21659659;21673687;21747166;21760921;21771732;21784839;21800344;21864521;21907704;21927029;21928342;21946149;21955589;22045431;22099397;22134873;22205539;22328559;22335903;22340243;22350758;22363806;22395513;22416876;22422617;22438586;22454511;22466886;22516997;22532143;22533709;22539964;22576977;22586581;22611323;22684333;22699679;22795353;22814105;22846210;22906474;22918238;22964303;23029004;23044205;23055574;23056332;23061738;23073116;23108098;23142580;23175185;23227240;23274856;23280549;23284892;23307318;23323010;23368866;23383241;23390502;23414795;23435419;23454256;23494140;23501329;23508392;23530034;23564449;23567513;23582094;23593935;23631855;23648563;23681229;23687336;23727026;23741006;23772794;23824844;23847295;23988606;24005672;24014274;24074434;24079812;24090133;24112732;24121259;24122827;24146089;24154679;24269276;24462773;24464580;24597264;24703458;24755068;9054739;9242708;9371786;9927660 1490 P29279;Q5M8T4 ABBA01025885;AF127918;AF316366;AF316367;AF316368;AK092280;AK125220;AK290884;AK315207;AL354866;AMYH02014498;AY395801;AY550024;BC087839;BT019794;BT019795;CH471051;CR541734;CR541759;DA552292;DQ097843;FB668169;HH976319;HM015591;M92934;NG_016131;NM_001901;U14750;X78947;X92511 AAA75378;AAA91279;AAH87839;AAK60505;AAK60506;AAK60507;AAQ95223;AAS55639;AAV38597;AAV38598;AAZ29611;ADL14512;BAF83573;BAG37644;BAG52518;BAG54167;CAA55544;CAA63267;CAG46534;CAG46559;CAS92743;CBX51740;EAW48038;EAW48039;NP_001892;P29279 Hs.410037 1654585;1657708;1803672;1804218;1805344;1806600;1819754;1831236;1842488;1917120;1917122;1917124;1917126;1917128;1917130;1917132;1917134;1917136;1917138;1917140;1917142;1917144;1917146;1917148;1917150;1917152;1917154;1917156;1917158;1917160;1917162;1917164;2140451;2146947;2178092;2206242;2206244 D6S2424;ECD02742;ECD03031;ECD03619;ECD04257;ECD10947;ECD16754;ECD22450;REN29375;REN29376;REN29377;REN29378;REN29379;REN29380;REN29381;REN29382;REN29383;REN29384;REN29385;REN29386;REN29387;REN29388;REN29389;REN29390;REN29391;REN29392;REN29393;REN29394;REN29395;REN29396;REN29397;RH18002;RH35874;SHGC-12753;STS-X78947;stSG626375;stSG626376 CCN2;HCS24;IBP-8;IGFBP-8;IGFBP8;MGC102839;NOV2 CCN family member 2;IGF-binding protein 8;OTTHUMP00000017213;hypertrophic chondrocyte-specific protein 24;insulin-like growth factor-binding protein 8 APPROVED protein-coding ENSG00000118523 HGNC:2500 00412 121009 REVIEWED 1348842 CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa ENCODES a protein that exhibits beta-catenin binding; cadherin binding; gamma-catenin binding; INVOLVED IN cellular response to indole-3-methanol; PARTICIPATES IN E-cadherin signaling pathway; N-cadherin signaling pathway; vascular endothelial growth factor signaling pathway; ASSOCIATED WITH Breast Neoplasms; Carcinoma, Lobular; Carcinoma, Renal Cell; FOUND IN catenin complex; cell-cell junction; focal adhesion; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; 5-aza-2'-deoxycytidine 5 5 5 q31.2 134210957 134392494 + 138089075 138270723 + 138753418 138935034 + 1580863;2289491;2289791;2289792;2289795;2289798;2289799;2289804;2289811;2289793;2289796;2289797;2298485;2298486;6480464;6484113;6907045;8554872 11161853;11431364;12047765;15195114;16334164;16426728;16803534;17223851;17639504;17760743;9355975;9522220;9863006 10026224;10381631;10420987;10460003;10508479;10635315;10868478;10910767;11069925;11080149;11179419;11226248;11274246;11883950;11907041;11960376;12003790;12417594;12477722;12477932;12532469;12604612;12640114;12734196;12808048;14567991;14599963;14625392;14702039;14755240;15294866;15297182;15302935;15489334;15492215;15541354;15561718;15695815;15916880;15923648;15948257;16212417;16273278;16322481;16344560;16798615;16807684;16927799;17072306;17081983;17576040;17620599;17668349;17979184;18078809;18215130;18418437;18566211;18781797;1904011;19124205;1924379;19458087;19656157;19726720;19745064;19763817;19773761;19826047;19913121;19918298;19941816;20032304;20360068;20371743;20529814;20529828;20628086;20933443;20936779;21030692;21139048;21145461;21693764;21708131;21832049;21875946;21890473;21900206;21906983;21937720;21963094;22080244;22381337;22469663;22493458;22586326;22774602;22797925;22863883;22939629;23000965;23077317;23208944;23383273;23718855;24509793;24583282;24685333;24816145;7542250;7650039;7651399;7706414;7790378;7806582;7890674;7945318;7954478;8188230;8227214;8259519;8323564;8404069;9110993;9168809;9214391;9233779;9266853;9434630;9512503;9700171;9762469 1495 B4DKT9;B4DU00;E5RFG3;E5RFK9;E5RFM3;E5RFM5;E5RG03;E5RGD2;E5RGG4;E5RGS1;E5RGU3;E5RGY6;E5RGY7;E5RHJ5;E5RHR7;E5RHV7;E5RHY5;E5RIB1;E5RIE0;E5RIT8;E5RJ41;E5RJ43;E5RJC9;E5RJL0;E5RJP7;E5RJZ2;G3XAM7;H0YB54;H0YBB8;P35221 ABBA01068653;ABBA01068654;ABBA01068655;ABBA01068656;ABBA01068657;ABBA01068658;AC011405;AC034243;AF102803;AI078507;AK055751;AK094151;AK296708;AK300439;AK304267;AMYH02012304;AMYH02012305;AMYH02012306;AMYH02012307;AMYH02012308;AMYH02012309;AMYH02012310;AU141929;AY884207;BC000385;BC031262;BU624488;CH471062;D13866;D14705;DA349847;DC369291;HQ589335;KF458015;L22080;L23805;NM_001290307;NM_001290309;NM_001290310;NM_001290312;NM_001903;U03100;XM_005271898;XM_005271899;XM_006714536 AAA18949;AAA35502;AAA86430;AAC99459;AAH00385;AAH31262;AAW56940;ABM82176;ABM85361;AEF32483;BAA02979;BAA03530;BAG52830;BAG59301;BAG62162;BAG65130;EAW62122;EAW62123;EAW62124;NP_001277236;NP_001277238;NP_001277239;NP_001277241;NP_001894;P35221;XP_005271955;XP_005271956;XP_006714599 Hs.445981 1654738;1658427;1688221;1758727;1778180;1780840;1780848;1785438;2115968;2123250;2126537;2147993;2148861;2159620;2163552;2167484;2174861;2191049;5037328;5114686;5117602;5121627;5493881 A002T30;D5S1856;D5S2430;D5S517E;G17002;G29950;GDB:591091;Lrrtm2;MARC_13807-13808:1006870442:1;RH11437;RH16367;RH36132;RH70257;RH91185;SHGC-13050;SHGC-145669;SHGC-149332;SHGC-2340;SHGC-36193;STS-AA026630;WI-17966;bac5237S;bac5253S CAP102;FLJ36832;FLJ52416 OTTHUMP00000224141;OTTHUMP00000224147;alpha E-catenin;alpha-E-catenin;alpha-catenin;alphaE-catenin;cadherin-associated protein,102kDa;catenin alpha-1;renal carcinoma antigen NY-REN-13 2293448 PRSTS211_H protein-coding ENSG00000044115 HGNC:2509 00285 116805 VALIDATED 1320341 CTNNA3 catenin (cadherin-associated protein), alpha 3 This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 10 10 10 q22.2 60952569 62730826 - 67672276 69455949 - 65912518 67696191 - 1580863;6480464;6907045;8699517;7240710;8554872 10420987;11590244;11883950;12477932;12596047;14559775;15075440;15164054;15302915;15342556;15489334;15533819;16199552;16385451;17081983;17158188;17209133;17366617;17535849;17761686;18163421;19105203;19187332;19913121;20306291;20379614;20400461;20546594;20628086;21254927;21562850;21598020;21988832;22190034;22398721;22948383;22977168;23064961;23077317;23136403;23251661;23358160;23583980;23718855;23793025;23897914;23934736;24023788;24100690;24358122;24407380 29119 A8K141;F2Z2R0;Q5SW23;Q8WW10;Q9UI47;V9GYW4 ABBA01019532;ABBA01019533;ABBA01019534;ABBA01019535;ABBA01019536;ABBA01019537;ABBA01019538;ABBA01019539;ABBA01019540;ABBA01019541;ABBA01019542;ABBA01019543;ABBA01019544;ABBA01019545;ABBA01019546;AC016819;AC018979;AC020642;AC022017;AC022029;AC022401;AC022534;AC026394;AC069536;AF091606;AF282692;AK289756;AK308726;AK313882;AL139240;AL592075;AL607022;AL607023;AL713957;AL731538;AL731549;AMYH02023228;AMYH02023229;AMYH02023230;AMYH02023231;AMYH02023232;AMYH02023233;AMYH02023234;AMYH02023235;AMYH02023236;AMYH02023237;AMYH02023238;AMYH02023239;AMYH02023240;AMYH02023241;AY198183;BC022004;BC030646;BC065819;BP362015;BX103986;CH471083;NG_034072;NM_001127384;NM_001291133;NM_013266;XM_005269717;XM_006717805;XM_006717806;XM_006717807 AAF21801;AAH22004;AAH30646;AAH65819;AAO43101;AAQ14328;BAF82445;BAG36608;EAW54249;EAW54250;EAW54251;NP_001120856;NP_001278062;NP_037398;Q9UI47;XP_005269774;XP_006717868;XP_006717869;XP_006717870 Hs.21375;Hs.660362 1298123;1335257;1337516;1341064;1667189;1673504;1676768;1685954;1693716;1700384;1706740;1706840;1707460;1713667;1716119;1720259;1723157;1726925;1727009;1727517;1728523;1730289;1753669;1756613;1764027;1766611;1775958;1781978;2106805;2121073;2122912;2132248;2134996;2150040;2156724;2163322;2167794;2178592;2186125;2218446;5019901;7184702 074XE1;CGR166;CTNNA3_4652;Cda0og07;D10S1192;D10S1422;D10S1646;D10S1670;D10S2294;D10S233E;D10S2340;D10S2445;D10S502;D10S522;D14S1278;G17504;G54754;G62706;G62902;G63016;G63699;GAAT-P8562;HSC1UA032;RH103812;RH120716;RH121024;RH123763;RH123878;RH92057;SHGC-107614;SHGC-143653;SHGC-144180;SHGC-147682;SHGC-149915;SHGC-58636;SHGC-80827;SHGC-80902;SHGC-84525;STS-AA009437;STS-Z39591;WI-22233 ARVD13;MGC26194;MGC75041;VR22 OTTHUMP00000019684;alpha T-catenin;alpha-T-catenin;alpha-catenin-like protein;cadherin-associated protein;catenin alpha-3 protein-coding ENSG00000183230 HGNC:2511 09639 607667;615616 REVIEWED 1350422 CTNNBIP1 catenin, beta interacting protein 1 The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 9019961 9067271 - 9908334 9970316 - 9848276 9910358 - 1580863;6480464;6907045 10898789;12068170;12124804;12182422;12408824;12408825;12417602;12477932;14613891;15063782;15489334;16188939;16189514;16293619;16325583;16575872;16858403;17072306;17255093;17353931;17418091;17638851;18070361;18183411;18287330;18433021;18500270;18705344;18715618;18806748;18844223;18852287;18854359;18977368;18992165;19038973;19089909;19322201;19433865;19550115;19569129;19898961;20034989;20182836;20219600;20300972;20809334;20811694;20830236;20878057;20970365;21049553;21336584;21478268;21532622;21574102;21636708;21791486;21885566;21890473;22053931;22075503;22081448;22525043;22749188;22815884;23027379;23110823;23339455;23572266;23612487;23648139;23752183;23928935;23971040;23973669;24250222;24390805;24514042;24816145 56998 Q9NSA3 AB021262;ABBA01035571;ABBA01035572;ABBA01035573;AL357140;AMYH02000257;BC014300;BC146892;BC146896;BI226022;CB995652;CH471130;NG_029165;NM_001012329;NM_020248;XM_006710779 AAH14300;AAI46893;AAI46897;AAI72294;ABZ92405;BAB03458;EAW71631;EAW71632;NP_001012329;NP_064633;Q9NSA3;XP_006710842 Hs.463759 1660728;1692442;1855338;2109207;2128767;2175355;2184755 AL033871;CTNNBIP1_7272;HSC13F032;SHGC-30730;SHGC-74192;SHGC-74197;SHGC-74198 ICAT;MGC15093 OTTHUMP00000001722;OTTHUMP00000001723;OTTHUMP00000001724;OTTHUMP00000001725;beta-catenin-interacting protein 1;beta-catenin-interacting protein ICAT;catenin, beta-interacting protein 1;inhibitor of beta-catenin and Tcf-4 APPROVED protein-coding ENSG00000178585 HGNC:16913 09677 607758 REVIEWED 1322895 CTNNAL1 catenin (cadherin-associated protein), alpha-like 1 ENCODES a protein that exhibits cadherin binding (inferred); structural molecule activity (inferred); INVOLVED IN Rho protein signal transduction; FOUND IN cytosol; INTERACTS WITH (+)-catechin; (-)-demecolcine; aflatoxin B1 9 9 9 q31.2 82204052 82274963 - 111704849 111775829 - 108942569 109013594 - 6480464 10542337;11768226;12270917;12477932;12694354;14690447;14702039;14993280;15164053;15489334;17647259;17952117;18374411;20677014;20696764;21115837;21139048;21278790;21906983;21988832;22359570;22648798;22733455;23000965;23047866;8125298;9806841 8727 B3KMX6;Q5JTQ6;Q5JTQ9;Q9UBT7 AB451283;AB451415;ABBA01042774;ABBA01042775;ABBA01042776;ABBA01042777;AF006070;AF030233;AF080071;AF134871;AF134872;AF134873;AF134874;AF134875;AF134876;AF134877;AF134878;AF134879;AF134880;AF134881;AF134882;AF134883;AF134884;AF134885;AF134886;AF134887;AF134888;AF135021;AI148526;AK022539;AK022834;AK022926;AK223230;AK314677;AL050016;AL354797;AMYH02021430;AMYH02021431;AY523969;BC117208;BC117234;BU677451;CH471105;DB457537;NM_001286974;NM_003798;U97067;XM_005252291 AAC26011;AAC27693;AAC69576;AAC83460;AAF07819;AAF07820;AAF07821;AAI17209;AAI17235;AAR92479;ADR83406;BAD96950;BAG37231;BAG51138;BAG70097;BAG70229;CAB43238;EAW59035;EAW59036;EAW59037;NP_001273903;NP_003789;Q9UBT7;XP_005252348 Hs.58488 1697108;1728355;1772757;1777003;1848496;2138781 A004G45;G29131;G63459;RH102038;SGC38315;STS-W44423 ACRP;CLLP;FLJ08121;alpha-CATU OTTHUMP00000021872;OTTHUMP00000021873;alpha-catenin-related protein;alpha-catulin;alpha2-catulin;catenin alpha-like protein 1 protein-coding ENSG00000119326 HGNC:2512 09210 604785 VALIDATED 737465 CTLA4 cytotoxic T-lymphocyte-associated protein 4 This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008] 2 2 2 q33 198487330 198493462 + 204732511 204738683 + 203867788 203873960 + 1300386;1300385;1358538;1300388;1300387;1580863;1300299;2302003;2301958;2302001;2301974;2301976;2301995;2301975;2301997;2301998;2302000;4891517;4891507;4891528;4891519;4891524;4891518;4891500;4891510;4891512;4891520;4891522;4891523;4891526;4891515;4891516;4891521;4891504;4891527;4891499;4891529;4891514;4891509;6480464;6907045;7204512;7204516;7204518;7204687;7240710;7204675;7204514;7204724;7204500;7204515;7204519;7204671;7204674;7204678;7204725;7204726;7204691;7204722;7204723;7204727;2312302;6902936;6902906;7204684;7411700;7421517;7411696;7421505;7421523;7421506;7421509;7411683;7421503;7421502;7421512;7411680;7411682;7411681;7411699;7421521;7421511;7411697;7411687;7421519;7411684;7411672;7421515;7411686;7421507;7411698;7421513;7411701;8554872 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1493 P16410 ABBA01062619;AC010138;AF142144;AF316875;AF411058;AF414120;AF486806;AK313732;AMYH02005603;AY209009;AY792514;AY999702;BC069566;BC070162;BC074842;BC074893;BG058720;CD639535;CH471063;DQ357942;DQ534200;DQ785106;GN344047;L15006;M74363;NG_011502;NM_001037631;NM_005214;U90273;XR_241294;XR_427072 AAA52127;AAB59385;AAD00698;AAF02499;AAH69566;AAH70162;AAH74842;AAH74893;AAK13084;AAL07473;AAL40932;AAL96664;AAO17066;AAV66331;AAX93176;AAY00166;ABC67470;ABG79000;ABG85285;BAG36473;CAY55959;EAW70354;NP_001032720;NP_005205;P16410 Hs.247824 1855598;2152618 GDB:180415;STS-M37245 CD;CD152;CELIAC3;CTLA-4;GRD4;GSE;ICOS;IDDM12 CD152 isoform;OTTHUMP00000163781;OTTHUMP00000216623;OTTHUMP00000216624;cd152 antigen;celiac disease 3;cytotoxic T lymphocyte associated antigen 4 short spliced form;cytotoxic T-lymphocyte antigen 4;cytotoxic T-lymphocyte protein 4;cytotoxic T-lymphocyte-associated antigen 4;cytotoxic T-lymphocyte-associated serine esterase-4;insulin-dependent diabetes mellitus 12;ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4 APPROVED protein-coding ENSG00000163599 HGNC:2505 00474 123890;140300;601388;609755 REVIEWED 1312865 CTNNA2 catenin (cadherin-associated protein), alpha 2 ENCODES a protein that exhibits cadherin binding (inferred); structural molecule activity (inferred); INVOLVED IN axonogenesis (ortholog); brain morphogenesis (ortholog); dendrite morphogenesis (ortholog); PARTICIPATES IN arrhythmogenic right ventricular cardiomyopathy pathway; endometrial cancer pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; adherens junction (ortholog); axon (ortholog); INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; calcitriol 2 2 2 p12-p11.1 79568796 80704725 + 79740060 80875993 + 79512934 80648868 + 1580863;6480464;6907045;8554872 10420987;11883950;12477932;12808048;15489334;15815621;15923648;16182284;16325583;16344560;1638632;18163523;18464913;18519826;18781797;18839057;19240061;19416921;19913121;20379614;20628086;21139048;21708131;21890473;21906983;21963094;22797925;22833195;23000965;23077317;23398456;23443559;23535033;24100690;24124408;24152035;24250222;24483146;8432524 1496 B8ZZE7;B9A010;C9IZ88;C9J144;F6KRI5;P26232;Q49AD3 ABBA01075675;ABBA01075676;ABBA01075677;ABBA01075678;ABBA01075679;ABBA01075680;AC008067;AC010975;AC011741;AC011746;AC016670;AC016716;AC093322;AC096573;AC096753;AC104780;AK127226;AK294362;AK295181;AK295493;AK303035;AL708938;AMYH02004127;AMYH02004128;AMYH02004129;AMYH02004130;AMYH02004131;AMYH02004132;AMYH02004133;BC040458;BC052996;BI599815;BX537769;BX648368;CH471053;DA313393;DC341423;FJ695201;HQ589336;KF510830;M94151;NM_001164883;NM_001282597;NM_001282598;NM_001282599;NM_001282600;NM_004389;XM_006711949 AAA58407;AAH40458;AAH52996;AAX88946;AAX93241;AAY14758;AAY14763;AAY15008;AAY15073;AEF32484;BAG54457;BAH11745;BAH12003;BAH12088;BAH13884;CAD97832;EAW99563;EAW99564;EAW99565;NP_001158355;NP_001269526;NP_001269527;NP_001269528;NP_001269529;NP_004380;P26232;XP_006712012 Hs.167368 1335244;1340993;1341472;1342053;1651042;1663940;1671005;1685247;1693548;1696082;1697496;1704290;1704732;1714399;1719287;1719993;1721533;1727663;1734954;1739287;1743343;1751471;1753383;1755171;1764251;1775292;1779524;1784284;2107289;2109205;2114785;2149058;2154117;2157837;2158208;2163614;2173793;2176390;2184035;2218620;7186253 1886;CTNNA2_567;Cda0zh07;D2S139;D2S1708E;D2S1942E;D2S195E;D2S2082;D2S2180;D2S2191;D2S2508;D2S253;G10614;G59621;G63245;GDB:315061;LRRTM1__7335;RH102250;RH120192;RH123366;RH123973;RH47921;RH48071;RH66010;SHGC-105309;SHGC-107219;SHGC-142093;SHGC-147872;SHGC-153496;SHGC-172957;SHGC-17687;SHGC-31140;SHGC-58461;SHGC-79114;SHGC-79646;SHGC-83284;STS-M78331;TOP3A__3878;WI-18395;WI-7682 CAP-R;CAPR;CT114;CTNR;DKFZp686H02198 OTTHUMP00000216460;OTTHUMP00000216461;OTTHUMP00000216462;alpha N-catenin;alpha-N-catenin;alpha-catenin-related protein;cadherin-associated protein, related;cancer/testis antigen 114;catenin alpha-2 protein-coding ENSG00000066032 HGNC:2510 00228 114025 VALIDATED 1318250 CTNS cystinosin, lysosomal cystine transporter This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 17 17 17 p13 3553503 3580136 + 3539762 3566397 + 3636468 3663103 + 1342442;1601022;1580863;6480464;7240710;8554872;8699517 15179208;9537412 10068513;10444339;10482956;10556299;10571941;10625078;10673275;11121245;11150305;11505338;11565547;11708862;11855931;12110740;12138135;12204010;12401840;12442267;12477932;15128704;15365816;15885099;15956064;16344560;16439594;17137217;17471495;17643777;18337546;18752449;19056867;19580442;19852576;19863563;20079424;20301574;20352457;20413906;21508882;21786142;22232659;22363504;22450360;22649030;23640116;7112129;9792862 1497 A8MXW3;C9JMM9;I3L0Z6;I3L1K8;I3L484;I3L4A9;O60931 ABBA01054742;AC027796;AC132942;AF168787;AJ222967;AK292019;AK296178;AK297525;AK309044;AK309651;AMYH02032806;AMYH02032807;BC032850;BX369529;CA454595;CH471108;CR542058;DB026195;NG_012489;NM_001031681;NM_004937;XM_005256485;XM_006721463;XM_006721464;Y15924 AAF43102;AAH32850;ADZ16096;BAF84708;BAG58913;BAG59928;CAA11021;CAA75882;CAG46855;EAW90494;EAW90495;EAW90496;NP_001026851;NP_004928;O60931;XP_005256542;XP_006721526;XP_006721527 Hs.187667 1339254;1678563;1687866;2118456;2143969;2218448;5022450;5024761 A008L05;CTNS_4653;D10S275;D15S1258;D17S829;RH36905;RH80740;RH92559 CTNS-LSB;PQLC4 OTTHUMP00000115861;OTTHUMP00000197111;cystinosin;cystinosis, nephropathic APPROVED protein-coding ENSG00000040531 HGNC:2518 05885 219750;219800;219900;606272 REVIEWED 1353744 CTNND2 catenin (cadherin-associated protein), delta 2 This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] 5 5 5 p15.2 11009117 11940384 - 10971952 11904155 - 10971840 11904043 - 1580863;6480464;7240710;8554872 10037471;10080919;10208590;10332026;10413599;10673328;10896674;11076863;11729199;11821434;11891774;12477932;12835311;15193146;15345747;15372022;16226102;17687028;18302937;18421076;18940311;18978817;19165527;19240061;19706687;20074565;20108168;20379614;20859058;20889312;21070476;21095009;21106062;21811021;21890473;21900206;21906983;21911587;22053931;22213037;22424883;22759899;22889411;22984439;23000965;24256404;24324551;24529757;8619474;9049630;9110174;9223106;9342840;9721216;9971746 1501 B4DJU1;B4DRK2;D6R9A8;D6RBA8;D6RC65;D6RF55;D6RHE9;E7EPC8;E9PHB5;Q9UQB3 AB013805;ABBA01020607;ABBA01020608;ABBA01020609;ABBA01020610;ABBA01020611;ABBA01020612;ABBA01020613;ABBA01020614;AC003089;AC003954;AC004633;AC004648;AC005367;AC005610;AC010433;AC010626;AC113390;AC127460;AF035302;AI680877;AK127257;AK226124;AK294420;AK296232;AK299300;AMYH02010857;AMYH02010858;AMYH02010859;AMYH02010860;AMYH02010861;AMYH02010862;AMYH02010863;AMYH02010864;AMYH02010865;AMYH02010866;AMYH02010867;AMYH02010868;BF512945;CH471102;DB571461;DC332925;DC341093;EU328348;EU350953;KC876929;KC876931;KC876934;KF457862;NG_023544;NM_001288715;NM_001288716;NM_001288717;NM_001332;NR_109988;U52351;U52828;U72665;U81004;U96136;XM_005248251;XM_005248252;XM_005248253 AAB68599;AAB83940;AAB88185;AAB96357;AAB97957;AAC63103;AAD00453;AAI11838;ABY59658;ACA13456;BAA36163;BAG54466;BAG57669;BAG58953;BAG61314;EAX08053;EAX08054;EAX08055;NP_001275644;NP_001275645;NP_001275646;NP_001323;Q9UQB3;XP_005248308;XP_005248309;XP_005248310 Hs.314543 1298186;1336879;1339103;1340008;1341827;1644418;1658736;1671648;1671788;1705864;1709054;1713785;1715865;1716847;1717075;1718589;1718829;1725071;1727291;1748519;1774026;1776938;1785292;1785672;1795634;1849699;2111107;2112170;2114618;2138362;2138364;2139400;2150899;2152523;2157962;2158223;2168052;2170862;2185561;7187046;7187576 1732;A002D18;CTNND2_1446;D5S117;D5S1987;D5S2317;D5S2586;D5S2769;D5S2865;D5S2867;D5S2881;D5S2882;D5S2883;D5S2887;D5S2897;D5S478;D5S569E;D5S667;D5S817;G19954;G63052;L28201;RH11828;RH118831;RH119627;RH120779;RH121454;RH121717;RH122980;RH123118;RH46037;SGC38317;SHGC-107760;SHGC-31327;SHGC-53360;SHGC-70151;SHGC-79635;SHGC-81193;WI-13430 GT24;NPRAP OTTHUMP00000115594;OTTHUMP00000220687;OTTHUMP00000220689;OTTHUMP00000220690;T-cell delta-catenin;catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein);catenin delta-2;delta-catenin;neural plakophilin-related ARM-repeat protein;neurojungin APPROVED protein-coding ENSG00000169862 HGNC:2516 09181 604275 REVIEWED 1351145 CTPL1 cataract, pulverulent (autosomal recessive, early-onset) ASSOCIATED WITH Cataract, Autosomal Recessive, Early-Onset, Pulverulent (inferred) 7240710 11179024 81863 1337850;1338296;1340386 D9S1123;D9S257;D9S768 HGNC:30997 605749 1322315 CTPS1 CTP synthase 1 This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 p34.1 39727935 39761156 + 41445007 41478237 + 40979335 41012565 + 1580863;5132859;5133414;2317903;6480464;8554872 12678497;12819026;19302751 10064135;12477932;15161933;15302935;15324660;15489334;16097034;16179339;16196087;16710414;17081983;17189248;17353931;17463002;17620599;17681942;1783378;18600551;18781797;1959918;19946888;20739275;2113467;21139048;21145461;21150319;21252943;21319273;21890473;21906983;21963094;21987572;22079093;22145905;22220215;22268729;22505724;22623531;22730407;22863883;22939629;23000965;23166591;23443559;24008161;24250222;24477477;24654937;24816145;24870241;25027693;3355843;7981751;8125298 1503 B7Z9C4;P17812 ABBA01023155;AI190299;AK130549;AK225899;AK297386;AK299122;AK303797;AK304817;AL391730;AMYH02000864;AMYH02000865;BC009408;BQ642049;CH471059;DA639348;DC313620;NG_034208;NM_001301237;NM_001905;NR_125440;X52142;XM_005270536;XM_006710390;XM_006710391;XR_426589 AAH09408;BAG59827;BAG61176;BAG64752;BAH14260;CAA36386;EAX07192;EAX07193;NP_001288166;NP_001896;P17812;XP_005270593;XP_006710453;XP_006710454 Hs.473087 1664367;1670139;1766689;2142474;2219064 AL009750;CTPS__4654;D1S3355;SHGC-149972;SHGC-74644 CTPS;IMD24 CTP synthetase 1;OTTHUMP00000006322;OTTHUMP00000006323;UTP--ammonia ligase 1;cytidine 5'-triphosphate synthetase;cytidine 5-prime triphosphate synthetase APPROVED protein-coding ENSG00000171793 HGNC:2519 00465 123860;615897 REVIEWED 1346196 CTNNBL1 catenin, beta like 1 The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013] 20 20 20 q11.23-q12 33029663 33207575 + 36322357 36500531 + 37693955 37872129 + 1580863;6480464;6907045 11780052;12477932;12659813;14702039;15175653;15489334;15498874;15635413;16189514;16344550;16712791;16730941;17332742;17903296;18029348;18325910;18722174;19228371;19245693;19471022;19946888;20176811;20200978;20360068;20379614;20712903;20816195;21055033;21139048;21215100;21385873;22105620;22365833;22505724;23277564;23383273;23897482;24163370;24269683;24598747;24816145;25027693;8125298 56259 A2A2P1;Q8WYA6 AA469176;ABBA01006628;ABBA01006629;ABBA01006630;AF086002;AF239607;AF367471;AF370431;AK024761;AK074663;AK091216;AK130301;AK222592;AK293420;AL023804;AL109964;AL118499;AMYH02037051;BC022802;BC036739;BC121005;BC121006;CB137946;CH471077;DC358260;KF456892;NM_001281495;NM_030877 AAH22802;AAI21006;AAI21007;AAK53407;AAL69567;AAQ15267;BAB14992;BAC11121;BAD96312;BAG56927;EAW76054;EAW76055;NP_001268424;NP_110517;Q8WYA6 Hs.472667 1335950;1670672;1674844;1691360;1693404;1777001;1777505;1784350;2129717;2136805;2139315;2180661;7186291 AL031797;AL034516;D20S750;D20S859;G09824;RH48105;RH65434;RH67827;SHGC-106585;WI-18282;Z94357;Z94669 C20orf33;FLJ21108;NAP;NYD-SP19;P14L;PP8304;dJ633O20.1 OTTHUMP00000030939;OTTHUMP00000030940;beta-catenin-like protein 1;nuclear associated protein;nuclear-associated protein;testis development protein NYD-SP19 APPROVED protein-coding ENSG00000132792 HGNC:15879 10850 611537 REVIEWED 1313793 CTNND1 catenin (cadherin-associated protein), delta 1 This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010] 11 11 11 q11 54886498 54943699 + 57520756 57586652 + 57761762 57819180 + 1580863;6480464;6484113;8554872 10207085;10208590;10225956;10321838;10393933;10409703;10629228;10753936;10835420;10931041;11181067;11226248;11382764;11389551;11712088;11821434;11855855;11969288;12115574;12151522;12370829;12427869;12477932;12492499;12604612;12640114;12671892;12707304;12734196;12740216;12835311;12885254;12938929;14610055;14610056;14625392;14660598;14699141;14996911;15146197;15161659;15166316;15240885;15324660;15342556;15522875;15548582;15561585;15564377;15588985;15592455;15817151;15833838;15857834;15951569;16083285;16120645;16212419;16226102;16344560;16534869;16786001;16935280;16982802;17047063;17081983;17115030;17215244;17242406;17255364;17264675;17334396;17344476;17383052;17509776;17576929;17620599;17668445;17719574;18029348;18032823;18343367;18407999;18490349;18541383;18550473;18595142;18632982;18641366;18653469;18837082;18950621;18979298;19008223;19116988;19150613;19154401;19162367;19199708;19284555;19293150;19332538;19394292;19471022;19604117;19615732;19615783;19706605;19711372;19763914;19894558;20108168;20118984;20151151;20172018;20193553;20232357;20371349;20382170;20460685;20510078;20562859;20564219;20599710;20668551;20940130;20971762;21070476;21098636;21139048;21145461;21150319;21317933;21336985;21385933;21468542;21481789;21554891;21670201;21693764;21732359;21747168;21775625;21832049;21890473;21903422;21906983;21937720;21963094;22022388;22031287;22053931;22120634;22276175;22304920;22513089;22583808;22590627;22615871;22648953;22715382;22777005;22833212;22833523;22846708;22850631;23000965;23071156;23073801;23139153;23212915;23220088;23325790;23383273;23443559;23499891;23614500;23653363;23667531;23706919;23839039;23887639;23936352;23981612;24284071;24371222;24412473;24457600;24474278;24505377;24583282;24797263;25015289;25027693;7542250;7651399;7806582;7876318;8660921;8808291;9205841;9378757;9535896;9653641;9774455 1500 C9JZR2;E9PKL1;E9PKY0;E9PRE2;H0YC95;O60716 ABBA01021479;ABBA01021480;ABBA01021481;AF062317;AF062318;AF062319;AF062320;AF062321;AF062322;AF062323;AF062324;AF062325;AF062326;AF062327;AF062328;AF062329;AF062330;AF062331;AF062332;AF062333;AF062334;AF062335;AF062336;AF062337;AF062338;AF062339;AF062340;AF062341;AF062342;AF062343;AF062344;AI079200;AI088791;AK292554;AL698868;AMYH02024847;AMYH02024848;AMYH02024849;AMYH02024850;AMYH02024851;AP001931;AY505564;BC010501;BC075795;BP217375;BT007333;CH471076;CN431494;CR749275;DB090596;NG_029078;NM_001085458;NM_001085459;NM_001085460;NM_001085461;NM_001085462;NM_001085463;NM_001085464;NM_001085465;NM_001085466;NM_001085467;NM_001085468;NM_001085469;NM_001206883;NM_001206884;NM_001206885;NM_001206886;NM_001206887;NM_001206888;NM_001206889;NM_001206890;NM_001206891;NM_001331 AAC39802;AAC39803;AAC39804;AAC39805;AAC39806;AAC39807;AAC39808;AAC39809;AAC39810;AAC39811;AAC39812;AAC39813;AAC39814;AAC39815;AAC39816;AAC39817;AAC39818;AAC39819;AAC39820;AAC39821;AAC39822;AAC39823;AAC39824;AAC39825;AAC39826;AAC39827;AAC39828;AAC39829;AAH10501;AAH75795;AAP35997;AAR84236;BAF85243;CAH18130;EAW73785;EAW73786;EAW73787;EAW73788;EAW73789;EAW73790;EAW73791;EAW73792;NP_001078927;NP_001078928;NP_001078929;NP_001078930;NP_001078931;NP_001078932;NP_001078933;NP_001078934;NP_001078935;NP_001078936;NP_001078937;NP_001078938;NP_001193812;NP_001193813;NP_001193814;NP_001193815;NP_001193816;NP_001193817;NP_001193818;NP_001193819;NP_001193820;NP_001322;O60716 Hs.166011 1744367;1851887;2156883;2175199 D11S4004;GDB:451855;RH47458;STS-H97485 CAS;CTNND;KIAA0384;P120CAS;P120CTN;p120;p120(CAS);p120(CTN) OTTHUMP00000235572;OTTHUMP00000235573;OTTHUMP00000235574;OTTHUMP00000235576;OTTHUMP00000235577;OTTHUMP00000235578;OTTHUMP00000235579;OTTHUMP00000235580;OTTHUMP00000235581;OTTHUMP00000235582;OTTHUMP00000235583;OTTHUMP00000235584;OTTHUMP00000235585;OTTHUMP00000235586;OTTHUMP00000235587;OTTHUMP00000235588;OTTHUMP00000235589;OTTHUMP00000235590;OTTHUMP00000235591;OTTHUMP00000235592;OTTHUMP00000235593;OTTHUMP00000235594;OTTHUMP00000235595;OTTHUMP00000235648;OTTHUMP00000235649;OTTHUMP00000235650;OTTHUMP00000235651;OTTHUMP00000235652;OTTHUMP00000235809;cadherin-associated Src substrate;catenin delta-1;p120 catenin APPROVED protein-coding ENSG00000198561 HGNC:2515 03026 601045 REVIEWED 1318112 CTRC chymotrypsin C (caldecrin) This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p36.21 14247812 14256036 + 15764938 15773153 + 15438442 15446658 + 1580863;6480464;7240710;8554872 11687574;12477932;15489334;16710414;16979187;17592142;18059268;18172691;19096130;19404200;19407484;20625975;2093478;21098023;21323990;21460362;21631589;22379635;22427236;22539344;22580415;22942235;23135764;23430245;2365696;23951356;24624459;8635596;8718849;9538241;9635374 11330 Q68DR9;Q99895 ABBA01004711;ABBA01004712;AK289447;AL031283;AMYH02000360;BC015118;BC059779;CH471167;CR749296;KF510696;NG_009253;NM_007272;S82198;Y13697 AAB47104;AAH15118;BAF82136;CAA74031;CAH18151;EAW51725;EAW51726;NP_009203;Q99895 Hs.631869 1335237;5014051;5015861;5022651;5037552;7185938 D10S16;D11S2921;D8S1735;D8S2278;D8S2279 CLCR;ELA4 OTTHUMP00000002321;caldecrin;chymotrypsin-C;elastase 4;elastase IV;serum calcium decreasing factor APPROVED protein-coding ENSG00000162438 HGNC:2523 03242 167800;601405 REVIEWED 1347928 CTRB2 chymotrypsinogen B2 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN cobalamin metabolic process (inferred); digestion (inferred); extracellular matrix disassembly (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH atrazine; bisphenol A; pirinixic acid 16 16 16 q23.1 59531248 59537102 - 75237994 75241072 - 75204096 75207174 - 6480464 12477932;15342556;2917002;8125298;8186414 440387 H3BMY1;H3BP92;H3BTQ4;Q6GPI1 ABBA01058125;AC009078;AK131056;AK225933;AK291822;AMYH02032396;BC073145;BP324399;CH471114;NM_001025200 AAH73145;BAF84511;EAW95661;NP_001020371;Q6GPI1 Hs.632211 1683926;1797088;5095873 CTRB1;RH65282;RH66396 OTTHUMP00000214637;chymotrypsin B2 protein-coding ENSG00000168928 HGNC:2522 VALIDATED 1602693 CTPS2 CTP synthase 2 The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X p22 20724510 20849457 - 16606122 16731059 - 16587999 16712979 - 5133419;5132879;6480464;6907045 20739275;21378502 10899599;12477932;14702039;15489334;15772651;16179339;16189514;17081983;19615732;21139048;21252287;21693764;21890473;21988832;22863883;24457600 56474 H0Y5S6;Q9NRF8 ABBA01071437;ABBA01071438;ABBA01071439;ABBA01071440;ABBA01071441;ABBA01071442;ABBA01071443;ABBA01071444;ABBA01071445;ABBA01071446;ABBA01071447;ABBA01071448;ABBA01071449;ABBA01071450;ABBA01071451;AC073909;AF086422;AF226667;AK023549;AK024070;AK025654;AK125332;AK125348;AK309508;AL445467;AMYH02038926;AMYH02038927;AMYH02038928;AMYH02038929;AMYH02038930;BC006256;BC034986;BX647712;CH471074;DA741994;DA759070;NG_013229;NM_001144002;NM_019857;NM_175859;XM_005274562;XM_006724503 AAF91241;AAH06256;AAH34986;ADZ15913;BAB14607;BAB14814;BAB15204;BAG54184;BAG54188;EAW98912;EAW98913;EAW98914;EAW98915;NP_001137474;NP_062831;NP_787055;Q9NRF8;XP_005274619;XP_006724566 Hs.227049 1652489;1653666;1662668;1701730;1737565;1744349;1745109;2163734;5491874 CTPS2;DXS7173;GDB:1318442;GDB:451774;GDB:594585;GDB:604580;RH1707;RH66008;WIAF-2131 DKFZp686C17207;FLJ43358;MGC32997 CTP synthase II;CTP synthetase 2;CTP synthetase isoform;CTP synthetase type 2;OTTHUMP00000022985;OTTHUMP00000022986;UTP--ammonia ligase 2;UTP-ammonia ligase;UTP-ammonia ligase 2;cytidine 5'-triphosphate synthetase 2 APPROVED protein-coding ENSG00000047230 HGNC:2520 02305 300380 REVIEWED 731605 CTRB1 chymotrypsinogen B1 The protein encoded by this gene is one of a family of serine proteases that is secreted into the gastrointestinal tract as an inactive precursor, which is activated by proteolytic cleavage with trypsin. [provided by RefSeq, Oct 2011] 16 16 16 q23.1 59548883 59552368 + 75252884 75258822 + 75218986 75224924 + 1580863;2303363;6480464 1716058 10713514;12477932;14702039;15012588;15489334;19844255;2071140;2435303;2456616;2789125;2917002;511932;6983488;8186414 1504 J3QKZ2;P17538 ABBA01058126;AC009078;AK124403;AMYH02032396;AW338596;BC005385;BT007356;BX497259;CA946996;CH471114;M24400;NM_001906 AAA52128;AAH05385;AAP36020;EAW95660;NP_001897;P17538 Hs.610926 1650995;1743235;1797088;2168710;5095873 CTRB1;GDB:310448;RH66396;RH71378;STS-W60277 CTRB;FLJ42412;MGC88037 OTTHUMP00000214638;chymotrypsinogen B APPROVED protein-coding ENSG00000168925 HGNC:2521 00345 118890 VALIDATED 1322372 CTR9 CTR9, Paf1/RNA polymerase II complex component CTR9, parafibromin (CDC73; MIM 607393), LEO1 (MIM 610507), and PAF1 (MIM 610506) form the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008] 11 11 11 p15.3 10894387 10922894 + 10772749 10801295 + 10751264 10779743 + 6480464 12421765;12477932;15231748;15302935;15489334;15632063;15923622;16024656;16307923;16964243;17081983;17911113;18469135;18551993;19136632;19345177;20178742;20305087;20541477;21139048;21406692;21726809;21890473;21906983;22053931;22082156;22405323;22451921;22532828;22797925;22863883;22939629;23000965;23593388;23667531;23891004;24163370;24816145;8590280;8636124 9646 H0YCE8;Q6PD62 ABBA01061154;ABBA01061155;AC116535;AK291794;AMYH02024329;BC014335;BC058914;CH471064;D63875;NM_014633 AAH58914;BAA09925;BAF84483;EAW68557;EAW68558;NP_055448;Q6PD62 Hs.725151 1725709;1850461;2108911;2177518;5017623;5096654 CTR9;G62052;RH25374;RH93322;SH2BP1_8969;SHGC-31621 KIAA0155;SH2BP1;TSBP;p150;p150TSP Ctr9, Paf1/RNA polymerase II complex component, homolog;OTTHUMP00000230974;RNA polymerase-associated protein CTR9 homolog;SH2 domain binding protein 1 (tetratricopeptide repeat containing);SH2 domain-binding protein 1;TPR-containing, SH2-binding phosphoprotein APPROVED protein-coding ENSG00000198730 HGNC:16850 06717 609366 PROVISIONAL 1346038 CTRL chymotrypsin-like ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN digestion (inferred); proteolysis (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH copper atom; copper(0); quercetin 16 16 16 q22.1 52471930 52474222 - 67963473 67965778 - 67929570 67931875 - 1580863;6480464 12231569;12477932;15489334;17207965;19126871;19494363;8125298;8267879;8268911;8812482;9065485 1506 I3L162;I3NI28;P40313 ABBA01025467;AC040162;AK223172;AMYH02032244;BC039716;BC063475;CH471092;NM_001907;X71874;X71877 AAH39716;AAH63475;ADQ32564;BAD96892;CAA50710;CAA50711;EAW83188;EAW83189;NP_001898;P40313 Hs.654546 2110345;2131189;2170436 CTRL_8289;D16S2961;SHGC-63628 CTRL1;MGC70821 OTTHUMP00000174857;chymotrypsin-like protease CTRL-1 protein-coding HGNC:2524 00344 118888 VALIDATED 1349342 CTS1 carpal tunnel syndrome 1 1507 HGNC:2526 733705 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Oct 2009] 3 3 3 p21 41179363 41220269 + 41236401 41281939 + 41199451 41240448 + 734850;1599632;1599637;1580863;2289674;2289488;2289813;2289814;2289815;2289817;2289818;2289828;2289792;2289829;2289830;2289831;1643593;2289794;2289832;2289833;2289834;2289836;2289837;2289816;2289835;2289840;2289843;1581696;2293188;2298488;2298485;2298800;2298487;2298486;2317517;4143515;6480464;6484113;6907045;7240710;7242068;8554872;8699517;9068449 10435629;11831984;12239584;12890743;12898599;15330191;15381903;15863126;16426728;16478782;16488995;16707478;16803534;16822086;16886601;16952352;17072826;17175927;17223851;17259108;17349568;17363521;17418409;17510243;17638904;17639448;17721269;17893236;17908479;18008331;18060046;18241848;18422975;18432252;19078924;20042609;9496256 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1499 B4DGU4;C9IZ65;C9JV16;E7EMJ5;E7EV28;E9PDF9;P35222 AB062292;AB451264;AB451392;ABBA01024789;AC104307;AK095242;AK289932;AK294778;AK296790;AK299954;AK314776;AMYH02006602;AY081165;AY463360;BC058926;BX648430;CH471055;DA216720;JA780904;JN314422;NG_013302;NM_001098209;NM_001098210;NM_001904;X87838;XM_005264886;XM_006712983;XM_006712984;XM_006712985;Z19054 AAH58926;AAL89457;AAR18817;ABZ92383;AEW16366;BAB93475;BAF82621;BAG57905;BAG59368;BAG61781;BAG70078;BAG70206;CAA61107;CAA79497;CCH22596;EAW64625;EAW64626;EAW64627;EAW64628;NP_001091679;NP_001091680;NP_001895;P35222;XP_005264943;XP_006713046;XP_006713047;XP_006713048 Hs.476018 1666701;1694476;1719271;1791748;1791904;1791906;1792712;1792714;2190507;5017949;5117094;5492162 Ctnnb1;EST12H1;G42968;GDB:435507;PMC123056P1;PMC130963P1;PMC130963P2;PMC15782P1;PMC15782P2;PMC21165P1;RH123357;SHGC-30856 CTNNB;DKFZp686D02253;FLJ25606;FLJ37923;MRD19 OTTHUMP00000162082;OTTHUMP00000165222;OTTHUMP00000165223;OTTHUMP00000209288;OTTHUMP00000209289;armadillo;beta-catenin;catenin beta-1 APPROVED protein-coding ENSG00000168036 HGNC:2514 00286 114500;114550;116806;132600;167000;615075 REVIEWED 736046 CTSE cathepsin E The protein encoded by this gene is a gastric aspartyl protease that functions as a disulfide-linked homodimer. This protease, which is a member of the peptidase C1 family, has a specificity similar to that of pepsin A and cathepsin D. It is an intracellular proteinase that does not appear to be involved in the digestion of dietary protein and is found in highest concentration in the surface of epithelial mucus-producing cells of the stomach. It is the first aspartic proteinase expressed in the fetal stomach and is found in more than half of gastric cancers. It appears, therefore, to be an oncofetal antigen. Transcript variants utilizing alternative polyadenylation signals and two transcript variants encoding different isoforms exist for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q31 179116519 179131198 - 206317459 206332104 + 206009264 206023909 - 6480464;8554872 11322887;11337467;12477932;12531480;12631277;12843568;1370478;14769879;15342244;15489334;15699105;15845357;16169070;17888866;17947645;1794985;18006832;18996084;19172291;195962;1959628;20600629;21664991;22068166;2226872;22718633;2334440;23451082;2369841;24242330;2674141;7789521;7983070;8346912;8457383;8491674;8759606;8765029;9502222 1510 B4DNU8;P14091 ABBA01001848;AJ250716;AJ250717;AK292057;AK298069;AU100136;BC042537;BX571818;CH471067;FO535328;J05036;M84424;NG_029664;NM_001910;NM_148964 AAA52130;AAA52300;AAH42537;ADZ15636;BAF84746;BAG60360;CAB82849;CAB82850;EAW91592;EAW91593;NP_001901;NP_683865;P14091 Hs.644082 1657380;1692788;1701652;1705872;1773491;2107977;2150581 AL033753;CTSE_571;D1S3200;G15897;RH104483;SHGC-76246;SHGC-81197 CATE OTTHUMP00000034345;OTTHUMP00000034346;erythrocyte membrane aspartic proteinase;slow-moving proteinase APPROVED protein-coding ENSG00000196188 HGNC:2530 00294 116890 REVIEWED 734437 CTSB cathepsin B The protein encoded by this gene is a lysosomal cysteine proteinase composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer disease, the most common cause of dementia. Overexpression of the encoded protein, which is a member of the peptidase C1 family, has been associated with esophageal adenocarcinoma and other tumors. At least five transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p22 10829316 10854967 - 11700033 11725646 - 11842524 11868137 - 734853;734852;1580863;2315501;2315508;2315510;2315521;2315524;2315571;2315615;2315504;2315515;2315534;2315605;2306495;2315520;2315527;2315528;2315726;2315502;2315513;2315516;2315523;2315531;2315517;2315506;1342442;5687152;6480464;5686870;5686392;5686395;5686877;5686873;5686394;6907045;5686402 10393385;11134381;12213722;12589965;15179208;15183956;15641152;1645961;17086443;17195213;17287256;17723883;17850215;17898873;18404379;18452148;18635848;18638529;18706099;18775855;18938146;19023196;19367387;19640986;19664906;19696938;19941836;19958779;21802389;22213084;7873730;8840269;9508185;9770500 10353845;10395917;10512713;10777578;10849756;10876156;11016923;11115496;11134363;11139332;11162551;11228542;11241311;11435427;11513559;11514663;11536009;11746262;11815600;11932257;12057992;12072442;12086583;12102727;12185082;12186841;12189154;12201820;12437117;12437120;12477932;12581740;12643545;12677446;12726991;12887051;12893746;12926111;1326552;14503883;14702039;14729603;14730346;14984956;15016552;15100281;15122332;15231747;15255544;15262981;15274632;15489334;15512772;15614436;15679122;15710602;1577456;15799821;15807897;15816632;15831716;15832773;1597471;16034129;16051222;16077201;16130169;16169070;16303743;16315320;16364318;1637335;16381007;16492714;16534247;16709808;16733801;16894574;16913838;16914553;17064696;17081065;17504810;17507477;17519890;17724614;17726009;17982689;17990360;17991740;18029348;18163891;18296264;18314113;1837142;18472965;18515357;18543249;18566385;18566436;18598236;18616803;1868826;18714186;18718938;18760860;18949742;19004543;1900515;19040356;19199708;19331819;19414800;19434518;19454696;19615732;19661440;19692168;19700239;19774387;19811804;1984484;19913121;19915865;19930869;1996959;20008285;20042316;20180636;20302512;20424577;20536394;20563251;20567828;20584670;2061332;20627011;20628086;20661471;20699092;20706999;20833970;20880494;20930303;21060833;21092200;21112096;21139048;21199580;21250859;21323990;21508263;21541353;21562164;21585286;21600167;21742978;21832049;21835790;21840777;21850018;21880013;21890473;21900206;21925292;21945151;21948970;21967108;22066471;22118674;22127599;22138708;22190034;22209964;22222211;22262857;22266111;22268729;22278224;22287159;22322590;22384200;22464443;22467319;22571763;22693552;22695494;22732093;22745374;22782900;22851129;22939629;22949512;23024364;23063511;23189279;23195957;23219593;23222509;23222817;23292187;23349634;23362198;23466190;23591598;23602568;23603447;23633927;23667900;23677785;23708264;23867815;23867824;23874603;24083575;24108784;24138030;24139065;24166050;24215712;24595198;24654937;24749816;2476070;24790080;25036637;25095637;3010323;3463996;3542996;3972105;417724;6203523;6351842;7509303;7622042;7718586;7890620;8014475;8083219;8112600;8617355;8635854;8811434;9076588;9295331;9299326;9360997;9412840;9539769;9582368;9585570;9632704;9733783;9776083;9928950 1508 E9PCB3;E9PHZ5;E9PID0;E9PIS1;E9PJ67;E9PKQ7;E9PKX0;E9PL32;E9PLY3;E9PNL5;E9PQM1;E9PR00;E9PR54;E9PS78;E9PSG5;P07858;R4GMQ5 ABBA01026877;AC025857;AC069185;AK075393;AK092070;AK097384;AK130184;AK290239;AK296845;AK297687;AL543654;AMYH02017443;AMYH02017444;AY082426;AY082427;BC010240;BC095408;BG770805;BM008741;BX647765;BX647952;BX648239;CB997355;CH471157;L16510;L38712;M13230;M14221;NG_009217;NM_001908;NM_147780;NM_147781;NM_147782;NM_147783;XM_006716244;XM_006716245;Y18460 AAA52125;AAA52129;AAC37547;AAH10240;AAH95408;AAL99368;AAL99369;BAF82928;BAG52127;BAG52477;BAG53460;BAG59411;BAG60046;CAA77178;CAI46053;EAW65630;EAW65631;EAW65632;EAW65633;EAW65634;EAW65635;EAW65636;NP_001899;NP_680090;NP_680091;NP_680092;NP_680093;P07858;XP_006716307;XP_006716308 Hs.520898 1686204;1698304;1699808;1712070;1725817;1728949;1795636;1848366;2132950;2150411;2157708;2162643;5015861;5016478;5022450;5022463;5022578;5022651;5024039;5037552;5109281;7185938 CTSB_430;D10Bir17;D10S16;D10S275;D11S2921;D16S325;D1S1423;D1S1425;D3S1673;D8S1946;D8S2052;D8S2279;G54083;G61996;GDB:434012;RH102692;RH103511;RH11588;RH75619;SHGC-58122;STS-M14221 APPS;CPSB APP secretase;OTTHUMP00000116009;OTTHUMP00000229510;OTTHUMP00000229511;OTTHUMP00000229512;OTTHUMP00000229514;OTTHUMP00000229515;OTTHUMP00000229516;amyloid precursor protein secretase;cathepsin B1;cysteine protease APPROVED protein-coding ENSG00000164733 HGNC:2527 00287 116810 REVIEWED 1319205 CTSA cathepsin A This gene encodes a glycoprotein which associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a complex of high molecular weight multimers. The formation of this complex provides a protective role for stability and activity. Deficiencies in this gene are linked to multiple forms of galactosialidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.1 41231053 41238921 + 44519591 44527459 + 45890952 45898820 + 1599169;1580863;6480464;6907045;7240710;8554872;8699517 8514852 10207930;10944848;11780052;12477932;12505983;12649068;12665801;1387645;14702039;14718574;15489334;15785934;1605251;16263699;16344560;16538002;1694176;17353931;1756715;18029348;19056867;1907282;1907800;19666471;19946888;19954752;2071143;21139048;2148053;21890473;22268729;2244901;22532132;22863883;22939629;23495688;23824909;23874603;23915561;24778252;24816145;3084261;3102233;3107551;3136930;3149149;3922758;6418007;6796775;8053688;8068159;8198123;8591035;8910459;8968752;9105659;9501080;9603439;9636645 5476 B4E324;P10619;Q5JZG9;Q5JZH0;U3KQ41;U3KQF1;U3KQU6;X6R5C5;X6R8A1 AB209705;ABBA01052670;AF086236;AF491871;AK055177;AK097786;AK172808;AK304536;AK307701;AK312898;AL008726;AMYH02037154;BC000597;BC093009;CH471077;DA029446;M22960;NG_008291;NM_000308;NM_001127695;NM_001167594 AAA36476;AAH00597;AAH93009;AAM09560;ABM82861;ABM86048;BAD92942;BAG35745;BAG65336;EAW75788;EAW75789;NP_000299;NP_001121167;NP_001161066;P10619 Hs.609336 1669052;1682095;1745931;1775941;2139751;2140703;5015859;5022200;5022578;5022588;5022651;5118444 Cda16d10;D11S2921;D11S3316;D1S1423;D20S1030;D5S1597E;G64282;GDB:193197;L18426;RH66081;RH93427;STS-M22960 GLB2;GSL;NGBE;PPCA;PPGB OTTHUMP00000031778;OTTHUMP00000031780;OTTHUMP00000031781;beta-galactosidase 2;beta-galactosidase protective protein;carboxypeptidase C;carboxypeptidase L;carboxypeptidase Y-like kininase;carboxypeptidase-L;deamidase;lysosomal carboxypeptidase A;lysosomal protective protein;protective protein cathepsin A;protective protein for beta-galactosidase (galactosialidosis);urinary kininase APPROVED protein-coding ENSG00000064601 HGNC:9251 02020 256540;613111 REVIEWED 736291 CTSC cathepsin C The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor, and a residual portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q14.2 86561173 86605363 + 88026760 88070941 - 88293592 88337773 - 1599638;1599639;1599640;1599645;1599651;1599652;1599653;1580863;6480464;7240710;8554872;8699517 10593994;12843783;148980;16127739;3705543;657443;843913 10581027;10662807;10662808;10756096;11015218;11076863;11106356;11158173;11180012;11180601;11230166;11327826;11726493;11886537;11914041;12080079;12083812;12112662;12137938;12139965;12358155;12477932;12809647;12857359;14974080;15108292;15111626;15146197;15231747;15489336;15585850;1586157;15985311;15991336;16381901;16502470;16712791;17020538;17535802;17652201;17943190;17976006;18256700;18294227;18307834;18809751;18841559;19056867;19816003;19946888;20236208;20359428;20797317;21139048;21393975;21742978;22082156;22268729;22532132;22863883;22928782;22939629;23108224;23311634;23397598;24374475;24654937;7649281;7665576;8125298;8811434;9092576;9272739;9507095 1075 H0YCY8;H0YDA2;P53634 AA011305;ABBA01011536;AC011088;AF234263;AF234264;AF254757;AF525032;AF525033;AI821972;AK223038;AK292117;AK296190;AK311923;AMYH02025259;AU076460;BC023559;BC054028;BC100891;BC100892;BC100893;BC100894;BC107770;BC109386;BC110071;BC113850;BC113897;BM997817;BX459226;BX537913;CB114425;CH471185;CN368896;NG_007952;NM_001114173;NM_001814;NM_148170;U79415;X87212 AAC51341;AAH54028;AAI00892;AAI00893;AAI00894;AAI00895;AAI09387;AAI10072;AAI13851;AAI13898;AAI46693;AAL48191;AAL48192;AAL48195;AAQ08887;AAQ08888;BAD96758;BAF84806;BAG34864;BAG58920;CAA60671;CAD97897;CAL38498;EAW59363;EAW59364;NP_001107645;NP_001805;NP_680475;P53634 Hs.128065 1648995;1668996;1681119;1795638;1858376;2161687;5094040 A001U42;CTSC_21;G33071;RH92667;SHGC-56741;STS-X87212;WI-17078 CPPI;DPP-I;DPP1;DPPI;HMS;JP;JPD;PALS;PDON1;PLS OTTHUMP00000235623;OTTHUMP00000235624;OTTHUMP00000235625;OTTHUMP00000235627;cathepsin J;dipeptidyl peptidase 1;dipeptidyl peptidase I;dipeptidyl transferase;dipeptidyl-peptidase I APPROVED protein-coding ENSG00000109861 HGNC:2528 03841 170650;245000;245010;602365 REVIEWED 1342646 CTSJ cathepsin J 337936 AF136272 HGNC:13263 735454 CTSH cathepsin H The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. [provided by RefSeq, Mar 2010] 15 15 15 q25.1 56150437 56173763 - 79214092 79237436 - 78921750 78945094 - 2315615;5686392;6480464;5686391;5686393;1549417;5686394;2306498;5686402 12589965;15183956;17027151;17086443;17583678;7561949;8640738;8840269 10395917;11134363;11136537;11514663;11796715;12034564;12203716;12477932;12581647;12615673;14515996;14662023;14766755;15127951;15196205;15231747;15489334;15646835;16502470;16822283;17500053;17601350;18029348;18216060;1837142;18676680;18949742;18977241;18978792;19073967;19170196;19404922;19430480;19625176;19692168;19913121;20203524;20628086;20647273;20881085;21217776;21771265;21890473;22704610;23204516;23483898;23874603;2486008;24982147;2587265;2588347;2849458;3342889;6184075;6203523;7821789;8811434;9050938;9076588 1512 E9PKT6;E9PN60;E9PN84;P09668 ABBA01060598;AC011944;AF426247;AF426248;AI057198;AK026152;AK130158;AK309491;AK314698;AL110099;AMYH02030872;AMYH02030873;AMYH02030874;BC002479;BC018821;BG775606;CH471136;CR456881;CR749582;D28436;NG_009614;NM_004390;X07549;X16832;XM_005254181;Y18461 AAH02479;AAL23961;AAL23962;ABM81609;ABM84698;BAA05802;BAG37247;CAA30428;CAA30429;CAA34734;CAA77179;CAG33162;CAH18374;EAW99143;NP_004381;P09668;XP_005254238 Hs.148641 1649647;1668236;1699870;1712092;2159414;2217216;5095185 CTSH,_C.1-1T>G;CTSH_2814;D15S1349;D2S2841;G54095;RH103543;STS-X16832 ACC-4;ACC-5;CPSB;DKFZp686B24257;MGC1519 N-benzoylarginine-beta-naphthylamide hydrolase;OTTHUMP00000185564;aleurain;cathepsin B3;cathepsin BA;minichain;pro-cathepsin H APPROVED protein-coding HGNC:2535 00288 116820 REVIEWED 1351014 CTSD cathepsin D This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has a specificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several sites, including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 1812103 1823339 - 1773982 1785222 - 1752752 1763992 - 1358532;1358533;1580863;1643198;5687152;6480464;6484113;6907045;7240710;8554872;8699517 11304834;12213722;15907478;17665967 10504270;10508159;10605825;10623764;10716266;10748089;10849758;10876156;10931940;10986284;11095076;11198280;11258665;11264868;11341921;11436125;11581410;11687971;11779865;11780226;11786931;11840502;11906282;12011767;12083803;12140763;12147324;12151789;12185597;12477932;12556904;12643545;12651610;12754519;12782337;12782632;12811635;12826741;12970159;14702039;14718574;14767531;15003956;15081423;15158911;15168727;15192082;15211064;15211070;1522590;15258139;15318816;15489334;15668295;15739123;15843343;15862967;15896324;15989967;16046058;16081416;16127101;16263699;16263712;16331270;16335952;16341674;16354654;16396496;16417614;16502470;16543533;16608402;16652347;16685649;16709808;16784755;16850161;17032648;17081065;17112520;17176069;17188016;17284061;17289576;17340625;1734961;17395004;17532541;17601350;17670831;17875703;18177262;18202773;18248894;18296260;18307033;18367545;1837142;18387691;18396902;18426579;18431031;18494001;18559512;18566016;18566385;18624398;18702517;18830724;1883350;18977241;19056867;19061927;19109932;19115690;19203374;19221643;19383337;1939080;19487283;19494521;19571726;19723497;19802014;19828951;19854241;19913121;19919557;19926167;19939935;19950226;20000738;20071328;20083556;20125193;2013314;20301334;20301601;20385381;20399529;20430722;20597865;20628086;20666480;20666745;2069717;20826454;20855565;20926008;21139048;21145461;21148553;21298030;21311773;21315176;21470957;21533003;21632707;21674799;21709160;21789704;21800051;2180427;21890473;21906983;21909273;21948970;22081071;22118674;22190034;22244896;22268729;22302483;22388353;22399610;22439866;22476353;22528489;22542809;22623531;22627201;22816225;22824147;22898924;22939629;22949512;22964611;22990118;22996917;23042275;23065739;23107604;23219593;23250759;23304142;23415546;23439581;23466190;23483898;23499937;23840360;23868063;23871913;23874603;23954850;24044567;24138030;24198402;24250222;24423188;24511668;24583282;25095637;2736531;3261170;3588310;3665421;3927292;3988746;6236213;7523115;7547509;7657720;7935485;8106429;8262386;8393577;8419924;8467789;8671230;8889548;8930981;8943232;9076588;9275067;938470;9731700 1509 C9JH19;F8W787;F8WD96;H7C1V0;P07339;V9HWI3 ABBA01012158;AC068580;AK130178;AMYH02024178;BC001574;BC016320;BM762986;BM976200;BT006910;BT020155;CH471158;CR456947;EU794598;L12980;M11233;M63138;NG_008655;NM_001909;S52557;S74689;X05344 AAA16314;AAA51922;AAB59529;AAD13868;AAD14156;AAH16320;AAP35556;AAV38957;ABM84473;ABM84804;ACJ13652;CAA28955;CAG33228;EAX02461;EAX02462;EAX02463;NP_001900;P07339 Hs.654447 1798912;1799002;1799496;1800096;1800194;1800556;1800920;1800974;1810490;1812522;1813104;1843470;1980544;1980546;1980548;1980550;1980552;1980554;1980556;1980558;1980560;1980562;1980564;1980566;1980568;1980570;1980572;1980574;1980576;1980578;1980580;1980582;1980584;1980586;1980588;1980590;1980592;1980594;1980596;1980598;1980600;1980602;1980604;1980606;1980608;1980610;1980612;1980614;1980616;1980618;1980620;1980622;1980624;1980626;1980628;1980630;1980632;1980634;2118647;2167078;2190877;2216362;2216364;2216366;2216368 CTSD;ECD00297;ECD00346;ECD00599;ECD00904;ECD00954;ECD01139;ECD01325;ECD01352;ECD06238;ECD07271;ECD07571;ECD22944;MARC_10183-10184:1004371792:5;REN61163;REN61164;REN61165;REN61166;REN61167;REN61168;REN61169;REN61170;REN61171;REN61172;REN61173;REN61174;REN61175;REN61176;REN61177;REN61178;REN61179;REN61180;REN61181;REN61182;REN61183;REN61184;REN61185;REN61186;REN61187;REN61188;REN61189;REN61190;REN61191;REN61192;REN61193;REN61194;REN61195;REN61196;REN61197;REN61198;REN61199;REN61200;REN61203;REN61204;REN61205;REN61206;REN61207;REN61208;REN61209;REN61210;STS-M63138;stSG548467;stSG548468;stSG548469;stSG548470 CLN10;CPSD;HEL-S-130P;MGC2311 OTTHUMP00000042282;OTTHUMP00000196039;OTTHUMP00000198692;cathepsin d (lysosomal aspartyl protease);ceroid-lipofuscinosis, neuronal 10;epididymis secretory sperm binding protein Li 130P;lysosomal aspartyl peptidase;lysosomal aspartyl protease APPROVED protein-coding ENSG00000117984 HGNC:2529 00291 116840;610127 REVIEWED 1604146 CTSL3P cathepsin L family member 3, pseudogene ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH ammonium chloride (ortholog); N-nitrosodiethylamine (ortholog); phenethyl caffeate (ortholog) 9 9 9 q21.33 60958324 60972282 + 90387830 90401799 + 87772915 87786884 + 6480464 12477932;19663681 392360 Q5NE16 ABBA01016328;AJ851862;AL160279;AMYH02021166;CH471089;NR_027917 AAI60188;CAH65460;EAW62737;Q5NE16 Hs.690450 CTSL3;HCTSL-s APPROVED pseudo ENSG00000188029 HGNC:33132 18619 VALIDATED 734172 CTSK cathepsin K The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013] 1 1 1 q21 123884715 123896850 - 150768684 150780917 - 150796208 150808441 - 1342442;734856;1601025;1580863;6480464;2306495;5686911;6907045;7240710;8554872;8699517 10469835;15179208;15353610;17551020;18635848 10048321;10491211;10719280;10849755;10878663;11733367;12039963;12081494;12125807;12477932;12492488;12504904;12568399;12652657;12887056;14645229;14684825;14753734;15161653;15304486;15489334;15737607;15797245;15826870;15837295;15878337;15929988;16169070;16337236;16344560;16354158;16774752;16831915;16912123;16946716;17207965;17227755;17230547;17397052;17683065;17728092;17882010;17889653;17991740;18053985;18163891;18368130;18511517;18664495;18664521;18692071;18765527;18949742;18979635;19060845;19194656;19338743;19371798;19396149;19428782;19433310;19446361;19453261;19469903;19674475;19700761;19750481;19800993;19886543;19913121;20305575;20430722;20450492;20494937;20628086;20628624;20727023;20837372;20869948;21086906;21099701;21602817;21715684;21756348;21874011;21880134;21983785;22562303;22569264;22569910;22614014;22730330;22974233;22990118;23152410;23326535;23355199;23369704;23483898;23529168;23585552;23689398;23951042;24088021;24134756;24269275;24342995;24583396;7492318;7576232;7805878;7818555;7929457;8585423;8647860;8703060;8938428;9028530;9033587;9143491;9143502;9276160;9405598;9529353;9548757;9893980 1513 P43235;Q5QP40 ABBA01049354;AK130134;AK308229;AK312880;AL355860;AL356292;AMYH02001862;AMYH02001863;AU118043;AU119985;AW631268;AY429530;BC016058;CH471121;CR541675;CR541719;DA251123;NG_011848;NM_000396;S79895;U13665;U20280 AAA65233;AAA95998;AAB35521;AAH16058;ADQ31724;CAG46476;CAG46520;EAW53515;EAW53516;NP_000387;P43235 Hs.632466 1666356;1795640;1852554;2113680;2152688;2168915;5123700 CTSK;CTSK_1244;D1S3284;RH18001;WI-12245;WI-16757;WI-9390 CTS02;CTSO;CTSO1;CTSO2;MGC23107;PKND;PYCD OTTHUMP00000032938;cathepsin O;cathepsin O1;cathepsin O2;cathepsin X APPROVED protein-coding ENSG00000143387 HGNC:2536 03064 265800;601105 REVIEWED 736036 CTSL cathepsin L The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012] 9 9 9 q21.33 60911195 60916605 + 90340974 90346384 + 87726059 87731469 + 1580863;2315546;2315571;2315576;2315597;2315622;2315625;2315605;1304337;1641826;2315595;2315726;2315588;2315547;2315555;2315524;1342442;5686392;6480464;5686877;5687152;5686873;5686870;6907045 12213722;12941783;14718385;15179208;15197181;15641152;15694131;15758467;16365386;16928772;17086443;18404379;19023196;19074676;19096818;19640986;19664906;19777444;19805911;21802389;22213084 10022822;10218831;10395917;10428479;10716919;10849756;11278902;11327826;11435427;11514663;11517935;116880;11767948;11771045;11777924;11801256;11978977;12137950;12437117;12437119;12477932;12492488;12504904;12748383;12754519;12809493;12818188;12921779;12926111;12949073;14511383;14702039;14718574;15099520;15100281;15174051;15196205;15255544;15318816;15454886;15489334;15498563;15512772;1551416;15665831;15816632;15832773;15982660;16303743;16335952;16354158;16433682;16565075;16740135;16913838;16918298;17192395;17227755;17519890;17561110;17574778;17643114;17889653;17928356;18163891;18221013;18366346;1837142;18450756;18495127;18616803;18619973;18624398;18658137;18971274;19005484;19270352;19291794;1939080;19550400;19663777;19915865;19924101;19939935;19958782;19959474;20075068;20302512;20347002;20497254;20524145;20567828;20837372;20881085;20926012;21029616;21134415;21226994;21308479;21382349;21395501;21484410;21496199;21501115;21555518;21562164;21585286;21700710;21715684;21742978;21750527;21756348;21769426;21775114;21880013;21896479;21898833;21900206;21906983;21925292;21965756;21967108;21988832;22031933;22222211;22281037;22365146;22451661;22571763;22674323;22695494;2275556;22871890;22963824;23009386;23063511;23229094;23337117;23536651;23603447;23677785;23900981;23915070;23958260;24108784;24319737;24402045;24583396;2835398;3342889;3421948;3490478;3545185;3550705;7340337;8419312;8666891;8811434;8889548;8896443;9076588;9141479;9468501;9548757;9585570;9632704;9733783;9837884;9918848 1514 P07711;Q5T8F0;Q9HBQ7 ABBA01016328;AF217997;AF304301;AF467444;AK055599;AK075100;AL160279;AL832167;AMYH02021164;AW270438;BC012612;BC142983;BI824449;BI829385;BM680778;BX537395;BX647101;BX647102;BX647413;BX647434;BX647435;BX648848;BX648849;BX649140;CB963086;CH471089;CR457053;DN993009;GN344049;GN344051;M20496;NM_001257971;NM_001257972;NM_001257973;NM_001912;NM_145918;X05256;X12451;XM_005251716;Y18462 AAA66974;AAG17239;AAH12612;AAI42984;AAM89516;AAQ05021;ABM83856;ABM87178;BAG52066;CAA28877;CAA30981;CAA77180;CAD97637;CAG33334;CAY55960;CAY55961;EAW62731;EAW62732;EAW62733;EAW62734;EAW62735;EAW62736;NP_001244900;NP_001244901;NP_001244902;NP_001903;NP_666023;P07711;XP_005251773 Hs.731507 1744365;1745107;1792952;2186371 D9S1706;GDB:451830;GDB:594510;PMC171390P2 CATL;CTSL1;FLJ31037;MEP OTTHUMP00000021601;OTTHUMP00000021602;cathepsin L1;major excreted protein APPROVED protein-coding ENSG00000135047 HGNC:2537 00293 116880 REVIEWED 1317010 CTSG cathepsin G The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. In addition, the encoded protein is antimicrobial, with bacteriocidal activity against S. aureus and N. gonorrhoeae. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Sep 2014] 14 14 14 q11.2 4907510 4910252 - 25042724 25045466 - 24573518 24576260 - 1580863;6480464;6907045;7242055;8554872 17322378 10512690;10899625;10978167;11241273;11259672;11307827;11389039;11502364;11520773;11520793;11536009;11557685;11747312;11907569;11920276;11928814;11945165;11961105;11986950;12477932;12504904;12524437;12531874;12784398;12949073;1387511;1452887;14688365;14737102;15100291;15123239;15131125;15140022;15385470;15489334;15650747;15967795;16034099;16317101;16444434;16977463;17418861;17653609;18217133;18586676;1861080;1873479;18835135;19036358;19056482;19056867;19250736;19528350;19578796;19620298;19910052;19913121;20056178;20331476;20589323;20628086;20800603;2116408;21193413;21488974;21543057;2164060;21850236;22145905;22588119;22641217;22915586;23147993;2318847;23454598;23466190;23940756;24532668;2501794;2569462;2616953;2681419;3304423;3799965;3911778;6294088;7517206;7593196;7936190;8090757;8125298;8194606;8400294;8408036;8454293;8849841;8896442;9337538;9412840;9536127;9565572;9698370;9718313 1511 P08311 ABBA01061345;AI272833;AK225914;AL136018;AMYH02028882;BC014460;CH471078;CR456807;CR541704;J04990;M16117;NM_001911 AAA51919;AAA52126;AAH14460;ABM83993;ABM87319;CAG33088;CAG46505;EAW66006;NP_001902;P08311 Hs.421724 1685299;1741109;1791752;1793666;1853992;2128548 GDB:177812;PMC123164P2;PMC24673P1;RH68974;RH69752;RH71371 CATG;CG;MGC23078 OTTHUMP00000178752 APPROVED protein-coding ENSG00000100448 HGNC:2532 00289 116830 REVIEWED 1317809 CTSF cathepsin F Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. [provided by RefSeq, Jul 2008] 11 11 11 q13 63651214 63656324 - 66330935 66336047 - 66563464 66568576 - 1580863;6480464;8699517;7240710;8554872 10198209;10318784;10362521;10661872;10748235;10876093;12477932;15184381;15489334;15989693;16751776;16963053;19416921;19913121;20301334;20301601;20628086;21926972;23297359;24255036;9822672 8722 E9PSC2;H0YD65;H0YE42;Q9UBX1 ABBA01024074;AF071748;AF071749;AF088886;AF132894;AF136279;AJ007331;AK313657;AL137742;AMYH02024979;AP002748;BC011682;BC013359;BC036451;CH471076;CR541680;DQ579017;NG_032973;NM_003793 AAC78838;AAC78839;AAD26616;AAD41790;AAF13146;AAH11682;AAH36451;ABM84171;BAG36411;CAB42883;CAB70900;CAG46481;EAW74547;EAW74548;NP_003784;Q9UBX1 Hs.11590 1712324;1742493;1769819;2161911;2171229;2172980;2189453;2217214 ACTN3;CTSF_3100;G54071;GDB:197568;MARC_6499-6500:992007251:1;RH47283;STS-M86407;STS-W72567 CATSF;CLN13 OTTHUMP00000235116;OTTHUMP00000235118 APPROVED protein-coding ENSG00000174080 HGNC:2531 04643 603539;615362 REVIEWED 1349396 CTSLP4 cathepsin L pseudogene 4 10 10 10 q11.23 75617531 75624432 - 52464418 52468675 - 50704658 50708915 - 19663681 644496 AL589794;AMYH02023055;NG_021158 CTSL1P4;CTSLL4;bA564C4.3 APPROVED pseudo HGNC:23645 INFERRED 1346149 CTSLP5 cathepsin L pseudogene 5 10 q11.22 46775417 46791512 - 643587 AC245513;AL603982;NG_006122 CTSL1P5;CTSLL5;bA342C24.4 APPROVED pseudo HGNC:23580 INFERRED 3563914 CTSLP3 cathepsin L pseudogene 3 10 10 q11.22 48980297 48981273 - 46758089 46759065 + 7713509 644021 ABBA01113647;AL731733;AMYH02022930;NG_016830 CTSL1P3;CTSLL3 APPROVED pseudo HGNC:2541 INFERRED 1342791 CTSLP6 cathepsin L pseudogene 6 INTERACTS WITH copper(2+) sulfate 10 10 10 q22.3 75620628 75624432 - 81629807 81633671 - 79870051 79873915 - 6480464 15164054 642413 AL512662;AMYH02023411;NG_021157 CTSL1P6;CTSLL6;bA479O17.1 APPROVED pseudo HGNC:23611 INFERRED 1349560 CTSM cathepsin M 337937 AY014777 HGNC:13264 1353735 CTSQ cathepsin Q 632504 10673370 337942 AF187323 HGNC:13783 1345891 CTSR cathepsin R 337990 AK005429 HGNC:19202 1343138 CTSO cathepsin O The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was abolished by an inhibitor of cyteine proteinase. [provided by RefSeq, Jul 2008] 4 4 4 q32.1 154176850 154206621 - 156845270 156875048 - 155924118 155953896 - 1580863;6480464 12477932;15489334;17207965;18029348;19786962;22889411;23009386;7805878;7929457;9790772 1519 P43234 ABBA01070178;ABBA01070179;AC093830;AC216823;AK300112;AK308323;AK312354;AMYH02010345;BC049206;BG617165;BI834113;BQ006443;CH471056;NM_001334;X77383 AAH49206;ADQ33131;BAG61907;CAA54562;EAX04883;NP_001325;P43234 Hs.75262 1660812;1661661;1720487;1725765;1748467;1772720;1854167;2178037;2217220 CTSO_3199;D4S3104;G59197;G62128;SHGC-23475;SHGC-54139;SHGC-67696;SHGC-67842;STS-X77383 CTSO1 OTTHUMP00000220879 APPROVED protein-coding ENSG00000256043 HGNC:2542 02772 600550 REVIEWED 1354146 CTSLP7 cathepsin L pseudogene 7 10 q11.22 47270681 47273487 - 100133189 AL391137;NG_021156 CTSL1P7;CTSLL7;bA144G6.6 APPROVED pseudo HGNC:23635 INFERRED 1352873 CTSLP8 cathepsin L pseudogene 8 INTERACTS WITH valproic acid 9 9 9 q22.1 61029938 61032613 + 90459660 90462339 + 87844745 87847424 + 6480464 15164054;16344560;7713509 1518 ABBA01016329;AL772337;AMYH02021166;DA786334;L25629;NR_033405 Hs.726015;Hs.737712 CTSL1P8 APPROVED pseudo HGNC:39084 VALIDATED 1343958 CTSLP1 cathepsin L pseudogene 1 10 10 10 q23.2 75620584 75624441 - 89146118 89149972 - 87386361 87390215 - 7713509 118945 AL355334;AMYH02023500;L07772;NG_009858 CTSL1P1;CTSLL;CTSLL1 APPROVED pseudo HGNC:2539 INFERRED 1344069 CTSV cathepsin V The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011] 9 9 9 q22.2 70309232 70315833 - 99791959 99801925 - 97029677 97039643 - 1580863;6480464;8554872 10029531;10382972;11027133;12477932;12648222;12925692;15164053;15192101;15489334;15679121;16565075;17516850;17869649;17889653;18163891;19939935;20347002;20536394;21139048;22393040;22452389;22562303;22967898;23287360;23542171;24121514;9563472;9727401 1515 B2R717;O60911 AB001928;AB019534;ABBA01042939;AF070448;AK310645;AK310740;AK312806;AL445670;AMYH02021303;AW444458;AX965575;AY358641;BC023504;BC110512;CH471105;CS265690;NM_001201575;NM_001333;XM_006716960;Y14734 AAC23598;AAH23504;AAI10513;AAQ89004;BAA25909;BAA34365;BAG35664;CAA75029;CAF06537;CAJ78377;EAW58831;EAW58832;NP_001188504;NP_001324;O60911;XP_006717023 Hs.610096 1679868;1792778;1792950;2217218;5022578 CTSL2_2905;D1S1423;PMC164504P1;PMC171390P1;RH98349 CATL2;CTSL2;CTSU;MGC125957 OTTHUMP00000021738;cathepsin L2;cathepsin L2, preproprotein;cathepsin U APPROVED protein-coding ENSG00000136943 HGNC:2538 04495 603308 REVIEWED 1319657 CTSW cathepsin W The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine proteinase that may have a specific function in the mechanism or regulation of T-cell cytolytic activity. The encoded protein is found associated with the membrane inside the endoplasmic reticulum of natural killer and cytotoxic T-cells. Expression of this gene is up-regulated by interleukin-2. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 62971189 62975117 + 65647284 65651212 + 65879813 65883741 + 1580863;6480464 10362521;10716634;10849754;11490002;12437118;12477932;15340161;15358123;15489334;19100676;19946888;20639865;22050231;23128233;9108299;9675123;9823953 1521 E9PI30;H0YDT2;P56202 ABBA01024098;AF013611;AF015954;AF055903;AMYH02024966;AP001201;BC035637;BC048255;BI833187;BM996548;CH471076;NM_001335 AAB82449;AAB82457;AAC32181;AAH48255;EAW74463;EAW74464;NP_001326;P56202 Hs.416848 LYPN OTTHUMP00000233962;OTTHUMP00000233963;lymphopain APPROVED protein-coding ENSG00000172543 HGNC:2546 03840 602364 REVIEWED 1602450 CTU1 cytosolic thiouridylase subunit 1 ENCODES a protein that exhibits nucleotidyltransferase activity (inferred); tRNA binding (inferred); INVOLVED IN protein urmylation (inferred); FOUND IN cytosol (ortholog); INTERACTS WITH copper(2+) sulfate; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.41 48652948 48663731 - 51600863 51611647 - 51097606 51108390 - 6480464 12477932;15489334;16964243;19017811;20877624;22678362;23891004;24250222 90353 Q7Z7A3 ABBA01068279;AC011473;AK291173;AMYH02036377;AY279382;BC009037;BX440723;CH471135;NM_145232 AAH09037;AAP42277;BAF83862;EAW71984;NP_660275;Q7Z7A3 Hs.148425 ATPBD3;MGC17332;NCS6 ATP binding domain 3;ATP-binding domain-containing protein 3;cancer-associated gene protein;cancer-associated protein;cytoplasmic tRNA 2-thiolation protein 1;cytoplasmic tRNA adenylyltransferase 1;cytosolic thiouridylase subunit 1 homolog APPROVED protein-coding ENSG00000142544 HGNC:29590 14270 612694 VALIDATED 1607020 CTTNBP2NL CTTNBP2 N-terminal like ENCODES a protein that exhibits protein phosphatase 2A binding; INVOLVED IN negative regulation of transmembrane transport; negative regulation of transporter activity; protein dephosphorylation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN actin cytoskeleton; INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene diol epoxide I 1 1 1 p13.2 111169369 111234318 + 112938800 113003786 + 112396178 112465081 + 6480464;8554872 10718198;11076863;11256614;12477932;14702039;15302935;15345747;15489334;15489336;16344560;16381901;16710414;16964243;18029348;18782753;19156129;19615732;20360068;21139048;22863883;23000965;23277359;23443559;23455922;24255178 55917 B1AMN7;Q9P2B4 ABBA01068406;AK022544;AK023340;AK055261;AL354760;AL359565;AL450407;AL598321;AMYH02001736;AMYH02001737;AMYH02001738;BC016029;BE645464;CH471122;DA238082;DB236769;NM_018704;XM_006710769;XM_006710770 AAH16029;BAG51087;CAB94870;CAL38429;CAL38646;EAW56515;EAW56516;EAW56517;NP_061174;Q9P2B4;XP_006710832;XP_006710833 Hs.744100 1648401;1650944;1771026;2136993;2178021 D1S2594;RH69499;SHGC-53201;SHGC-75328;SHGC-75334 DKFZp547A023;FLJ13278 CTTNBP2 N-terminal-like protein;OTTHUMP00000012854;OTTHUMP00000012855 protein-coding ENSG00000143079 HGNC:25330 10906 615100 VALIDATED 1352898 CTSZ cathepsin Z The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008] 20 20 20 q13.32 54310657 54322736 - 57570242 57582309 - 58995187 59007254 - 1580863;5686878;6480464 18700000 10653162;10653163;10656802;10745011;10760573;11030415;11076863;11256614;11780052;12477932;15489334;15489336;15680921;16381901;17065156;17601350;18420963;18976975;18977241;21139048;21310951;21354459;21368909;21454358;21616554;21963094;21966391;22139419;22268729;22451661;22632162;23128233;23827504;23874603;24026423;24654937;9642240;9738465 1522 Q5U000;Q9UBR2 ABBA01005967;AF009923;AF073890;AF136273;AF136274;AF136275;AF136276;AK310046;AK314931;AL109840;AMYH02037379;BC025419;BC042168;BT019915;CH471077;NG_023300;NM_001336 AAC61477;AAC63141;AAF13145;AAF13148;AAH42168;AAV38718;BAG37437;CAL37546;EAW75448;EAW75449;EAW75450;NP_001327;Q9UBR2 Hs.252549 1725649;1797446;2117088;2140488;2150856 A004R34;CTSZ_1953;G62034;RH48060;SHGC-31778 CTSX;FLJ17088 OTTHUMP00000031409;carboxypeptidase LB;cathepsin B2;cathepsin IV;cathepsin P;cathepsin X;cathepsin Y;cathepsin Z1;cysteine-type carboxypeptidase;lysosomal carboxypeptidase B;preprocathepsin P APPROVED protein-coding ENSG00000101160 HGNC:2547 04410 603169 REVIEWED 1350928 CTSS cathepsin S The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may participate in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The encoded protein can function as an elastase over a broad pH range in alveolar macrophages. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 1 q21 123818402 123853717 - 150702672 150738433 - 150730196 150765957 - 1580863;5686910;5686913;5686916;2306495;2303423;5686914;5687152;5686877;5686870;5686873;5687151;5687149;5686878;5686912;5686911;5686915;5687146;6480464;6907045;8554872 12213722;12368333;16344894;16631730;17539023;17551020;17997037;18635848;18700000;19640986;21143385;21228734;21439785;21802389;22213084;7717452;9691094 10395917;10721671;10852705;11115496;11134363;11241311;11435427;11710834;11856830;11884425;12164923;12437117;12477932;12643447;12742663;12748383;12819022;1373132;1377692;14718574;14966190;15196205;15489334;16140306;16338279;16354158;16394095;16410454;16502470;16550604;16710414;16825321;16839849;17075137;17227755;17601350;17622942;17878156;18029348;18410260;18565099;18957408;18977241;19101991;19104823;19336475;19404922;19487544;19553543;19593952;19700239;19849712;19913121;19939935;20045715;20164293;20180636;20356901;2044774;20628086;20880494;20881085;21038029;21094118;21112096;21223957;21250859;21315176;21585286;21756348;21878432;21896479;21967108;21989182;22101325;22365146;22424724;22571763;22730330;22761382;22796222;22844403;22844527;22923671;22952693;23362198;23439581;23585552;23707200;23742758;23747398;23892358;24064335;24335416;24523067;24580730;24583396;24644101;24875536;24940638;7575468;7890620;8083219;8157683;8706894;9076588;9099979;9143502;9164868;9524075;9545324;9548757;9876921 1520 P25774;U3KPS4;U3KQE7 ABBA01049354;AK024855;AK226095;AK301472;AK314482;AL356292;AMYH02001860;AMYH02001861;BC002642;BQ006623;CH471121;CR541676;JA885097;M86553;M90696;NM_001199739;NM_004079;S93414;U07369;U07370;U07371;U07372;U07373;U07374 AAA35655;AAB22005;AAB60643;AAC37592;AAH02642;BAG37086;BAG62991;CAG46477;CCQ77674;EAW53517;EAW53518;EAW53519;NP_001186668;NP_004070;P25774 Hs.181301 1650475;1674881;1676232;1692572;1714363;1795642;1849957;2170725 AL034054;CTSS_573;RH119963;RH44919;RH68555;RH80467;SHGC-35262;WI-18164 FLJ50259;MGC3886 OTTHUMP00000032942 APPROVED protein-coding ENSG00000163131 HGNC:2545 00292 116845 REVIEWED 1346453 CTSLP2 cathepsin L pseudogene 2 10 10 10 q11.22 3430 4338 - 48155943 48158691 + 47580671 47583419 - 7713509 1517 AK309109;AL391137;AL603982;BX547991;L25628;NR_033407 Hs.568350 1744365 GDB:451830 CTSL1P2;CTSL1P5;CTSL1P7;CTSLL2;CTSLL5;CTSLL7;CTSLP5;CTSLP7;FLJ99150;bA144G6.6;bA342C24.4 APPROVED pseudo HGNC:2540 VALIDATED 1604165 CTU2 cytosolic thiouridylase subunit 2 homolog (S. pombe) ENCODES a protein that exhibits nucleotidyltransferase activity (inferred); tRNA binding (inferred); INVOLVED IN protein urmylation (inferred); tRNA thio-modification (inferred); tRNA wobble uridine modification (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN protein complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; calcitriol; cobalt dichloride 16 16 16 q24.3 73276731 73278805 - 88772891 88781794 + 88706483 88715386 + 6480464;8554872 12477932;18029348;19017811;20881960;21906983;21963094;22678362;23891004 348180 H3BNM3;H3BNU5;H3BPG4;H3BSW6;Q2VPK5 ABBA01015843;ABBA01015844;ABBA01015845;AC138028;AK299521;AMYH02032643;BC021056;BC021829;BC044951;BC063512;BC080540;BC108659;BC121805;BC125269;BC157881;BM554780;BQ430809;CH471184;NM_001012759;NM_001012762 AAH80540;AAI08660;AAI21806;AAI25270;AAI57882;BAG61472;EAW66775;EAW66776;EAW66777;EAW66778;EAW66779;EAW66780;NP_001012777;NP_001012780;Q2VPK5 Hs.592074 1676480;1736594;2138088 D16S2592E;RH94123;SHGC-61047 C16orf84;MGC131681;MGC148063;MGC148064;NCS2;UPF0432 cytoplasmic tRNA 2-thiolation protein 2 protein-coding ENSG00000174177 HGNC:28005 18372 VALIDATED 1353903 CTXN1 cortexin 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH cobalt dichloride; pirinixic acid; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 19 19 19 p13.2 7860583 7862253 - 7989381 7991051 - 7924496 7926166 - 6480464 12477932;15489334;21890473;21963094;8336151 404217 P60606 ABBA01010876;AC010336;AK098834;AMYH02035411;BC024148;BC062702;CH471139;NM_206833 AAH62702;EAW68956;NP_996664;P60606 Hs.657978 2109955 TIMM44_9116 CTXN;FLJ25968 cortexin-1 protein-coding ENSG00000178531 HGNC:31108 13097 600135 VALIDATED 1351200 CTXN2 cortexin 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH toluene (ortholog) 15 15 15 q21.1 25376379 25388458 + 48470546 48495951 + 48178349 48203754 + 6480464 16572171 399697 P0C2S0 ABBA01039141;AC066612;AMYH02030388;BK004876;BX537772;NM_001145668;XM_005254377;XM_005254378;XM_006720504 NP_001139140;P0C2S0;XP_005254434;XP_005254435;XP_006720567 Hs.721408 cortexin-2 protein-coding ENSG00000233932 HGNC:31109 VALIDATED 7205526 CUBNP1 cubilin (intrinsic factor-cobalamin receptor) pseudogene 1 10 10 10 q11.21 39193188 39213392 - 43189819 43210024 - 42694371 42714576 - 14702039 728064 ABBA01049992;AL022344;AMYH02022702;NG_023216 1740873;2111280 D10S1132;D10S2319 pseudo HGNC:44983 INFERRED 7205525 CUBNP2 cubilin (intrinsic factor-cobalamin receptor) pseudogene 2 10 10 10 q11.21 41730677 41745871 - 45727466 45742716 - 45232018 45247268 - 100289280 ABBA01050025;AL512324;AMYH02022733 pseudo HGNC:44984 MODEL 7205586 CUBNP3 cubilin (intrinsic factor-cobalamin receptor) pseudogene 3 10 10 10 41625936 41647554 + 45622762 45644363 + 45127314 45148915 + 100421634 ABBA01050025;AL358394;AMYH02022732;AMYH02022733;NG_025491 1709020;1757515 SHGC-144890;SHGC-79578 pseudo HGNC:44985 INFERRED 1604412 CTXN3 cortexin 3 FOUND IN integral component of membrane (inferred); INTERACTS WITH mercaptopurine (ortholog); purine-6-thiol (ortholog) 5 5 5 q23.2 123115466 123125075 + 126984713 126994322 + 127649021 127658630 + 6480464 12477932;16344560;17786280;19023125;22643131 613212 Q4LDR2 AB219764;AB219832;ABBA01068876;AC022118;AMYH02012163;BC071790;BC147012;DA131605;DA623980;NM_001048252;NM_001127385 AAI47013;BAE06183;BAE06184;NP_001041717;NP_001120857;Q4LDR2 Hs.66194 1697204;1851559 RH102093;WI-13514 KABE OTTHUMP00000223480;OTTHUMP00000223481;cortexin-3;kidney and brain-expressed protein protein-coding ENSG00000205279 HGNC:31110 VALIDATED 7817291 CUL1P1 cullin 1 pseudogene 1 5 5 5 q23.2 123250588 123253809 - 127119857 127123078 - 127784165 127787386 - 100288463 ABBA01068874;ABBA01068875;AC113409;AMYH02012165;NG_021863 pseudo HGNC:49567 INFERRED 1352162 CTTN cortactin This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 2010] 11 11 11 q13 67505807 67543876 + 70244612 70282690 + 70398506 70436584 + 1580863;6480464;6484113;6907045;8554872 10537323;10760273;10921917;11018051;11231575;11389697;11431473;11439336;11607842;11689006;11830518;11988077;12060669;12151401;12176354;12176742;12408982;12419186;12453877;12477932;12522270;12620186;12672817;12732638;12835311;12913069;12938929;12952985;13129922;14702039;15056655;15064355;15123640;15144186;15159385;15169891;15242766;15263018;15302935;1532244;15464244;15574754;15579908;15592455;15618548;15710041;15719014;15842855;15951569;16051170;16076899;16169070;16212419;16261345;16280034;16344560;16385081;16416022;16442522;16489553;16527272;16611226;16636290;16652145;16815198;16825425;16825658;16905744;16937268;16964243;17005439;17056576;17081983;17178864;17292556;17318189;17449030;17451412;17483334;17510372;17562703;17576929;17620599;17627624;17643370;17702746;17893324;17959782;18039661;18067320;18155796;18334127;18342393;18387954;18403644;18406052;18521921;18607838;18678675;18776588;18850005;18931703;18991334;19146815;19207554;19219613;19242064;19322201;19380743;19457864;19589785;19666237;19684620;19885549;19885550;19898426;19947248;20053363;20069395;20213079;20363754;20805359;21044950;21079800;21139048;21145461;21257711;21258212;21373848;21395182;21418910;21419472;21474972;21503569;21562571;21646305;21669400;21847094;21856159;21858086;21890473;21906983;22007770;22050448;22078467;22089141;22105349;22117553;22145905;22219181;22252131;22282019;22297550;22304920;22377015;22378044;22412018;22514278;22768099;22797925;22863883;22939629;22944623;22952966;22991200;23000965;23030700;23144454;23161539;23398456;23402259;23518204;23702379;23991004;24120646;24265417;24332808;24409670;24414419;24469447;24654937;24861866;24867096;24891505;24920679;25036637;7566098;7680654;7685625;8125298;8474448;8636079;9054437;9553134;9722593;9742101;9748248;9792678;9813110;9823470 2017 AAB26248;B4E358;E9PKG3;E9PP90;H0YCD9;H0YEV2;H7BYK6;H7C314;Q14247;Q53HG7 AA325227;AB036705;ABBA01010311;AJ288897;AK023333;AK091778;AK222613;AK291097;AK304582;AMYH02025050;AP000487;AU124856;BC008799;BC033889;CH471076;DA716772;M98343;NG_029881;NM_001184740;NM_005231;NM_138565;XM_006718447;XM_006718448 AAA58455;AAB26248;AAH08799;AAH33889;ACE87023;ACE87710;BAD06416;BAD96333;BAF83786;BAG52416;BAG65370;EAW74766;EAW74767;EAW74768;EAW74769;EAW74770;NP_001171669;NP_005222;NP_612632;Q14247;XP_006718510;XP_006718511 Hs.596164 1682642;1717109;2114133;2120578;2131411;2159155;2179040;5037552;5109281 A008X45;D11S2382;D1S1425;D8S2279;EMS1;RH121473;RH17764;RH46594;RH65644 EMS1;FLJ34459 1110020L01Rik;OTTHUMP00000165961;OTTHUMP00000165962;OTTHUMP00000235667;amplaxin;ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate);oncogene EMS1;src substrate cortactin APPROVED protein-coding ENSG00000085733 HGNC:3338 01268 164765 REVIEWED 1349850 CUEDC1 CUE domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; afimoxifene 17 17 17 q23.2 52402105 52442530 - 55938604 56032684 - 57861243 57955323 - 6480464;8554872 12477932;14702039;15231748;15489334;19953087;20098747;20802204;21139048;21890473;21906983;8889548 404093 J3KRK6;J3KRV3;J3KT42;J3QLQ8;Q6AHX0;Q9NWM3 ABBA01041319;AC015813;AC015845;AK000746;AK000977;AMYH02033679;AMYH02033680;AMYH02033681;BC056882;BG475111;BU732837;CH471109;CR627470;NM_001271875;NM_001292025;NR_073495;XM_006721900;XM_006721901;XM_006721902;XR_429891 AAH56882;BAA91357;BAA91452;CAH10672;EAW94498;EAW94499;EAW94500;EAW94501;NP_001258804;NP_001278954;Q9NWM3;XP_006721963;XP_006721964;XP_006721965 Hs.46679 1644483;1770932;2142083 A004X25;G17969;RH12609 DKFZp547L163;FLJ20739 CUE domain-containing protein 1 protein-coding ENSG00000180891 HGNC:31350 13098 VALIDATED 1317669 CUEDC2 CUE domain containing 2 FOUND IN cytoplasm; nuclear membrane; nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; copper(2+) sulfate 10 10 10 q24.32 97923900 97933326 - 104183002 104192423 - 102423245 102432669 - 737633;6480464 12477932 15164054;15489334;16189514;16341674;16385451;17347654;18029348;18362886;19285159;21139048;21572428;21743465;21890473;21906983;21963094;21987572;22084247;22505724;23000965;23535732;23776205;24125838;24654937;24816145 79004 Q9H467 AB025425;AB232358;ABBA01063157;ABBA01063158;ABBA01063159;AF086406;AL121928;AMYH02023695;AMYH02023696;BC000262;BF002772;BM756951;CH471066;CS072312;CX165866;NM_024040;XM_005270147;XR_428716 AAH00262;BAB87809;BAE19942;CAI93450;EAW49696;EAW49697;EAW49698;NP_076945;Q9H467;XP_005270204 Hs.500874 1671679;1769799;1855821;2131105;2191759;5100601 D10S2152;G73121;MARC_7165-7166:996687578:1;RH47391;SGC33233;SHGC-34547 C10orf66;MGC2491;bA18I14.5 CUE domain-containing protein 2;OTTHUMP00000020368 protein-coding ENSG00000107874 HGNC:28352 13099 614142 VALIDATED 1321670 CUL2 cullin 2 ENCODES a protein that exhibits ubiquitin protein ligase binding; INVOLVED IN cell cycle arrest (inferred); cellular response to hypoxia (inferred); G1/S transition of mitotic cell cycle (inferred); PARTICIPATES IN neddylation pathway; proteasome degradation pathway involving cullin-dependent ubiquitin ligases; hypoxia inducible factor pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Cul2-RING ubiquitin ligase complex; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-amino-2-deoxy-D-glucopyranose; aldehydo-D-glucosamine 10 10 10 p11.21 35064147 35144640 - 35297479 35379570 - 35008551 35090642 - 1580863;1559275;6480464;6483358;6907045;8554872 11818338;19364912 10092517;10230407;10318914;10421634;10449727;10535940;10585493;10587522;10597293;10823831;10973499;11024059;11337588;11384984;11779168;11861641;11865071;11967155;12004076;12048197;12149480;12477932;12481031;12504026;12604794;12609982;12730221;14702039;15060148;15164054;15280393;15448697;15489334;15572695;15601820;15611064;15966899;16036220;16261165;16385451;16503656;16611863;16620772;16856496;17069461;17132228;17183367;17304241;17339318;17353931;17439941;17550899;17609115;17609271;17609381;17636018;17698809;17786314;18173839;18187417;18247557;18323857;18372249;18420585;18775313;18826954;18984674;19030229;19037258;19270718;19295130;19327355;19339690;19584355;19615732;19617556;19622774;19695223;19760754;19940151;20049704;20078552;20086098;20562859;20639865;20847044;21119685;21139048;21145461;21249194;21572988;21685897;21778237;21822215;21890473;21906983;21942715;21987572;22013077;22053931;22086907;22190034;22190037;22234250;22284679;22286099;22405651;22466964;22474075;22537386;22674379;22863883;22912744;22939624;22948661;22956996;23000965;23201271;23401859;23455478;23455922;23460923;23563313;23604317;23951410;23961993;24076655;24082123;24192928;24442433;24453364;24469044;24654937;24811749;24816145;7660130;8681378;9122164;9447969;9751722 8453 Q13617;Q5T2B4;Q5T2B5;Q5T2B7 ABBA01033347;AF126404;AI089201;AK095217;AK294080;AK300491;AK310225;AL392046;AL832733;AMYH02022611;AMYH02022612;BC009591;BC095405;BC110901;CH471072;DC401811;DC401936;NM_001198777;NM_001198778;NM_001198779;NM_003591;U58088;U83410 AAC50545;AAC51190;AAD23581;AAH09591;AAI10902;ADZ15514;BAG53007;BAH11667;BAH13294;EAW85924;EAW85925;EAW85926;EAW85927;EAW85928;NP_001185706;NP_001185707;NP_001185708;NP_003582;Q13617 Hs.82919 1690536;2114771;2217224 CUL2_3202;D10S2194;RH11247 CUL-2;MGC131970 OTTHUMP00000019436;OTTHUMP00000019437;OTTHUMP00000019439;OTTHUMP00000019440;OTTHUMP00000019441;cullin-2 protein-coding ENSG00000108094 HGNC:2552 06786 603135 VALIDATED 1353355 CTTNBP2 cortactin binding protein 2 This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008] 7 7 7 q31 112158873 112321703 - 117350702 117513561 - 117710648 117873507 - 6480464;8554872 11214970;11707066;12477932;12690205;12853948;14702039;15364959;15489334;18782753;19156129;19615732;20379614;22145905;23277359;23455922;24255178;9813110 83992 C9J720;C9JFC9;C9JVQ6;F8WB16;H0Y448;H7BZH0;H7C0N3;H7C2I0;Q20BG9;Q8WZ74 AB051545;ABBA01057795;ABBA01057796;ABBA01057797;ABBA01057798;AC004240;AC007568;AF377960;AK091548;AK096565;AK308081;AL137685;AMYH02016639;AMYH02016640;AMYH02016641;BC019644;BC106000;CH236947;CH471070;DQ354388;DQ354389;DQ354390;DQ354391;DQ356257;DQ356258;DQ356259;DQ356260;DQ356261;DQ356262;DQ356263;DQ356264;DQ388128;DQ388129;DQ388130;DQ388131;DQ388132;DQ388133;DQ388134;DQ388135;DQ388136;DQ388137;DQ388138;DQ388139;DQ388140;DQ388141;DQ388142;DQ388143;DQ388144;DQ388145;NM_033427;XM_005250634;XM_005250635 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C7orf8;CORTBP2;FLJ34229;KIAA1758;MGC104579;Orf4 OTTHUMP00000024498;OTTHUMP00000196639;cortactin-binding protein 2 APPROVED protein-coding ENSG00000077063 HGNC:15679 09890 609772 REVIEWED 6484026 CUL4AP1 cullin 4A pseudogene 1 4 4 4 q26 114639804 114643593 - 117347813 117351602 - 116426657 116430446 - 100129008 ABBA01063860;AC024248;AC106892;AMYH02009972;NG_022031 1337691;1696494;1719417;1847075 D4S1522;RH123490;SHGC-50310;SHGC-83131 pseudo HGNC:44027 INFERRED 68502 CUBN cubilin (intrinsic factor-cobalamin receptor) Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008] 10 10 10 p12.31 16799178 17105066 - 16865965 17171816 - 16823966 17129817 - 62401;61796;1599655;1580863;6480464;7240710;8554872;8699517 10080186;17037740;9478979 10037728;10371504;10552972;10811843;10887099;11278724;11595644;11606717;11717447;11788601;11856751;11994745;12687456;14576052;15164054;15342556;15583024;15616221;15736970;15951480;16303743;16385451;17124247;17487979;17979745;18448595;18791690;19056867;19161160;19197348;19303062;19366958;19710015;19744961;19878569;19913121;20237569;20379614;20398757;20615890;20628086;20852008;20855565;21116278;21355061;21595846;21750092;21781439;21903995;22337902;22437417;22574174;22761678;22929189;22990118;23114252;23824729;23978537;24093454;24097068;24357674;24563210;8510165;9334227;9572993;9691015 8029 B0YIZ6;H7C480;O60494;Q5JQ33 AB209880;ABBA01034561;ABBA01034562;ABBA01034563;AC067747;AF034611;AF086456;AF243082;AK074536;AK075228;AK308290;AK309623;AK310404;AL365215;AL596445;AL731551;AMYH02022241;AMYH02022242;AMYH02022243;AMYH02022244;BP270790;BP271329;CH471072;EF444970;NG_008967;NM_001081 AAC82612;AAK61829;ACA05973;ACA05974;BAD93117;BAG51968;BAG52089;EAW86221;NP_001072;O60494 Hs.166206 1706768;1717327;1753463;1757515;1781242;2111408;5022425;5024547 D10S1475;D1S3698;D22S296;RH122154;SHGC-107387;SHGC-144890;SHGC-80852;stSG69827 FLJ90055;FLJ90747;IFCR;MGA1;gp280 460 kDa receptor;OTTHUMP00000019220;cubilin;cubilin precursor variant 1;cubilin precursor variant 2;intestinal intrinsic factor receptor;intrinsic factor B12-receptor;intrinsic factor-cobalamin receptor;intrinsic factor-vitamin B12 receptor APPROVED protein-coding ENSG00000107611 HGNC:2548 04296 261100;602997 REVIEWED 1317768 CUL1 cullin 1 ENCODES a protein that exhibits ubiquitin protein ligase binding (inferred); INVOLVED IN protein ubiquitination; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; PARTICIPATES IN neddylation pathway; Notch signaling pathway; cell cycle pathway, mitotic; FOUND IN cullin-RING ubiquitin ligase complex; Parkin-FBXW7-Cul1 ubiquitin ligase complex; SCF ubiquitin ligase complex; INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene diol epoxide I 7 7 7 q36.1 143066358 143168625 + 148395631 148498202 + 148698654 148801110 + 1559274;1580863;6480464;6484113;6907045;5490225 10772955;21135871 10023660;10066435;10230406;10230407;10318914;10321728;10531035;10559858;10559916;10597293;10644755;10648623;10713156;10748083;10790373;10851089;11027288;11032804;11076863;11230166;11231585;11245432;11337588;11359933;11384984;11445862;11483504;11506706;11565034;11585921;11689688;11717410;11850407;11861641;11956208;11961546;11967155;12140560;12417738;12477932;12481031;12504025;12504026;12565873;12609982;12628165;12628923;12679038;12684064;12690205;12706828;12717421;12759363;12769844;12791267;12820959;12840033;12853948;12861003;12904573;12925736;14508008;14603323;14681206;14685242;14702039;14743216;14752276;15103331;15118074;15145941;15361859;15448697;15452136;15456869;15469984;15489334;15489336;15604093;15640526;15759013;15798217;15966899;16009132;16036220;16045761;16103149;16123585;16123592;16137618;16177058;16196087;16275325;16278047;16322693;16357137;16381901;16410731;16503656;16620772;16714087;16759355;16774918;16797541;16861300;16874460;16880511;17015689;17028207;17079684;17081987;17098746;17148452;17205132;17206147;17215248;17254749;17274640;17290223;17318178;17353931;17370265;17389604;17429597;17438373;17439941;17452440;17463251;17494702;17550899;17569795;17704768;17914462;18056411;18071316;18094045;18173839;18203720;18239684;18247557;18274552;18378770;18495667;18606781;18627766;18650423;18660753;18723677;18765672;18775313;18784078;18805092;18809579;18818696;18826954;18851830;19037258;19066453;19141280;19150432;19193609;19245792;19256485;19270694;19295130;19349673;19398581;19509332;19581926;19596235;19615732;19617556;19656241;19679553;19713960;19738611;19762596;19762597;19779646;19786724;19808933;19933270;19935701;19945379;19966869;20068069;20160477;20181953;20190741;20198633;20379614;20473970;20518860;20638939;20708156;20832730;20847044;20878082;21119685;21130766;21135578;21139048;21145461;21169563;21190721;21205095;21247897;21249194;21572392;21572988;21640084;21738080;21757720;21765416;21778237;21813641;21890473;21903097;21906983;21946088;21963094;21987572;21988832;22013077;22017875;22113614;22118674;22190034;22190037;22268729;22310285;22388891;22399757;22405651;22464731;22466964;22474075;22479149;22505724;22590978;22674379;22711876;22730322;22748924;22767593;22822056;22851693;22863883;22939624;22939629;22956996;22959436;22972877;22975506;23000965;23019411;23027877;23108047;23109433;23201271;23213463;23267066;23297342;23319600;23322298;23324393;23408908;23429288;23453757;23455922;23469015;23554956;23563313;23589227;23592700;23624913;23658844;23776465;23868976;23951410;23972993;24035498;24076655;24082123;24085301;24157836;24192928;24269809;24318128;24332808;24390425;24457600;24469040;24500709;24654937;24657926;24700029;24778179;24785407;24794231;24804778;24811749;24816145;24912918;24949976;25015289;25027693;8681378;8889548;9430629;9636170;9663463;9736735;9827542;9990852 8454 B3KTW0;Q13616 AACC02000041;ABBA01033596;AC005229;AC006323;AF062536;AK096163;AK096505;AK296909;AK315023;AMYH02017028;AMYH02017029;AMYH02017030;BC034318;BC125119;BC125120;BG391038;BX537409;CA945052;CH471146;NM_003592;U58087;XM_005250060 AAC36681;AAC50544;AAI25120;AAI25121;AAM49153;AAS02034;BAG53222;BAG53307;BAG59465;CAD97651;CAL38322;CAL38443;EAL24422;EAW80072;EAW80073;EAW80074;NP_003583;Q13616;XP_005250117 Hs.146806 1341318;1657483;1683547;1708936;1712388;1759375;1766873;1775300;1852330;1853674;2217222;7186745 BCD3347;CUL1_3035;D7S2419;G54220;RH44316;RH45747;SHGC-151181;SHGC-152293;SHGC-30511;SHGC-79521;STS-AA028139 CUL-1;MGC149834;MGC149835 OTTHUMP00000202347;cullin-1 protein-coding ENSG00000055130 HGNC:2551 04389 603134 VALIDATED 1342683 CUL4B cullin 4B This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q23 120122944 120174184 - 119658444 119709684 - 120524589 120575829 - 1580863;6480464;6907045;7240710;8554872;8699517 10092517;10230407;10597293;10978356;12168954;12477932;12481031;12504026;12609982;14578910;15302935;15489334;15772651;16036220;16322693;16344560;16407252;16503656;16620772;16678110;16861890;16949367;16964240;17041588;17236139;17273978;17392787;18029348;18235224;18593899;18775313;18794347;18826954;19056867;19056892;19295130;19339032;19615732;19617556;19651607;19801544;19818632;20002452;20005570;20064923;20360068;20932471;20951943;21139048;21145461;21228219;21319273;21352845;21778237;21795677;21816345;21832049;21853274;21890473;21906983;21963094;21987572;22032989;22182342;22466964;22586326;22863883;22902626;22939624;22939629;22952844;22992378;23000965;23201271;23297343;23314748;23348097;23357576;23479742;23555860;23649548;23824909;24269809;24452595;24654937;24703702;24719410;24811749;24816145;24962565;8681378;9734811 8450 A6NE76;K4DI93;Q13620 AB014595;ABBA01049575;ABBA01049576;ABBA01049577;ABBA01049578;ABBA01049579;AC002476;AF212995;AK123688;AK299081;AK315037;AL451005;AMYH02040362;AMYH02040363;AMYH02040364;AY365125;BC036216;BX537641;BX537787;BX647096;CH471107;CR936722;CV573599;DB092748;NG_009388;NM_001079872;NM_003588;U58091;XM_005262481;XM_006724784;XM_006724785 AAB67315;AAC50548;AAH36216;AAK16812;AAR13073;ABM85676;BAA31670;BAG37520;BAG53936;BAH12944;CAD97843;EAX11876;EAX11877;EAX11878;EAX11879;EAX11880;NP_001073341;NP_003579;Q13620;XP_005262538;XP_006724847;XP_006724848 Hs.102914 1340699;1681316;1700606;1769918;1795650;2135725;2139445;2170341;2179250;5122963 AL008931;AL021607;CUL4B_575;DXS1212;DXS425;DXS7272;DXS7904;G16011;RH103925;SHGC-56967 CUL-4B;DKFZp686F1470;KIAA0695;MRXHF2;MRXS15;MRXSC;SFM2 OTTHUMP00000023946;OTTHUMP00000023947;OTTHUMP00000023948;cullin-4B APPROVED protein-coding ENSG00000158290 HGNC:2555 02251 300304;300354 REVIEWED 1314380 CUL7 cullin 7 The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] 6 6 6 p21.1 44557598 44573926 - 43005355 43021683 - 43037617 43053950 - 1580863;1559287;1559277;1559286;6480464;6907045;7240710;8554872;8699517 12481031;15021886;16142236 10531037;12421765;12477932;12904573;14574404;15489334;15964813;16344560;16547496;16875676;17205132;17229476;17298945;17332328;17474147;17586686;17675530;17942889;17998335;18029348;18498745;19225462;19850743;20005570;20301654;21119685;21135578;21139048;21396581;21572988;21737058;21778237;21890473;21906983;21946088;22032989;22156540;22524683;22586326;22939629;22942238;23000965;23018678;23029530;23045529;23383273;23443559;23455922;23517720;23602568;23667531;24255178;24362026;24550499;24793695;7584044 9820 Q14999 ABBA01050696;ABBA01050697;AK292806;AK302668;AK307936;AK309902;AL136304;AL355385;AMYH02013638;BC033647;BG424177;CH471081;D38548;DA496861;NG_016205;NM_001168370;NM_014780;XM_005249503;XM_006715285 AAH33647;BAA07551;BAF85495;BAG63902;EAX04144;EAX04145;NP_001161842;NP_055595;Q14999;XP_005249560;XP_006715348 Hs.520136 1667040;1673739;1776371;2110347;2217628;5125336;5491471;5491519 CUL7_8997;MARC_14751-14752:1010684373:1;MARC_16785-16786:1033500245:3;MRPL2_2872;RH25305;RH46646;WI-16092;WI-19676 3M1;CUL-7;KIAA0076;dJ20C7.5 OTTHUMP00000016418;cullin-7 APPROVED protein-coding ENSG00000044090 HGNC:21024 09901 273750;609577 REVIEWED 1317824 CUL3 cullin 3 This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 2 2 2 q36.2 219099731 219215637 - 225334867 225450114 - 224470150 224585397 - 1580863;1559280;1559279;6480464;6484113;6907045;8699517;7240710;8554872 12781129;15601839 10230407;10500095;10597293;11311237;11337588;11384984;11861641;12477932;12481031;12609982;12684064;15107402;15282312;15302935;15367669;15448697;15489334;15572695;15592455;15772280;15897469;15897978;15983046;16036220;16045761;16503656;16524876;16547521;16620772;16790436;17046835;17148452;17192413;17254749;17439941;17543862;17550899;17699672;17822677;18075312;18218622;18221766;18247557;18251510;18274552;18303015;18397884;18414007;18417180;18429817;18573101;18757741;18775313;18826954;18835386;19037258;19056867;19256485;19261606;19295130;19427028;19489739;19615732;19617556;19768582;19782033;19805454;19818708;19818716;19946888;19995937;20027226;20080956;20081843;20360068;20389280;20421418;20452971;20463177;20534351;20562859;20599909;20800603;20847044;21139048;21145461;21237243;21247897;21249194;21357422;21549840;21577200;21670212;21778237;21828050;21832049;21840486;21890473;21906983;21987572;21988832;22013077;22085717;22118674;22147914;22215675;22219362;22245129;22245496;22266938;22405651;22448038;22466964;22474075;22505724;22542517;22558124;22573887;22578813;22632832;22748208;22810651;22863883;22911784;22939624;23000965;23040068;23135275;23142077;23201271;23213463;23308193;23349464;23365135;23387299;23453970;23454126;23563313;23573258;23576762;23689903;23776465;23838290;23902721;23936405;23951410;23962426;24067371;24082123;24127568;24145166;24192928;24266877;24269809;24322982;24654937;24747150;24768539;24816145;24863065;24896564;25011449;25015289;8619474;8681378;9110174;9663463;9733711;9734811 8452 B7Z600;H7C1J0;H7C1L6;H7C399;Q13618 AB014517;ABBA01023767;ABBA01023768;ABBA01023769;AC073052;AC092679;AF052147;AF062537;AF064087;AK098531;AK291151;AK299644;AK308496;AMYH02005886;AMYH02005887;AY007151;AY337761;BC031844;BC039598;BC092409;BQ688156;CH471063;NG_032169;NM_001257197;NM_001257198;NM_003590;U58089;XM_006712800 AAC28621;AAC36304;AAC36682;AAC50546;AAH31844;AAH39598;AAH92409;AAQ01660;AAX93287;AAY24157;BAA31592;BAF83840;BAH13086;EAW70828;EAW70829;EAW70830;NP_001244126;NP_001244127;NP_003581;Q13618;XP_006712863 Hs.372286 1672895;1685886;1706786;1714187;1734870;1771044;1795646;2155194;2178563;5093590;5491954 A009S22;CUL3-1;CUL3_313;D2S1630E;D2S1988;D2S2605;G32809;RH119703;RH47436;RH91730;SHGC-80864 CUL-3;FLJ25665;PHA2E OTTHUMP00000164219;OTTHUMP00000203839;OTTHUMP00000203840;cullin-3 APPROVED protein-coding ENSG00000036257 HGNC:2553 09123 603136;614496 REVIEWED 1312713 CUTC cutC copper transporter Members of the CUT family of copper transporters are associated with copper homeostasis and are involved in the uptake, storage, delivery, and efflux of copper (Gupta et al., 1995 [PubMed 7635807]; Li et al., 2005 [PubMed 16182249]).[supplied by OMIM, Mar 2008] 10 10 10 q24.2 95229343 95253279 + 101491958 101515894 + 99732201 99756137 + 1580863;6480464 10810093;12477932;14702039;15489334;15635413;16169070;16182249;16189514;16341674;18029348;19878721;21139048;21963094;22412388;22505724;22863883;23251661;24250222;24816145;7635807 51076 Q5TCZ7;Q9NTM9 ABBA01063243;AF132966;AK001142;AK302507;AK314687;AL133353;AMYH02023643;BC011016;BC015059;BC021105;BC028948;BM738181;CD107559;CH471066;NM_015960 AAD27741;AAH21105;AAH28948;BAG37239;BAG63784;EAW49854;EAW49855;EAW49856;NP_057044;Q9NTM9 Hs.16606 1849400;5095562 D10S2401;RH122013 CGI-32;RP11-483F11.3 OTTHUMP00000020260;OTTHUMP00000020261;OTTHUMP00000020262;copper homeostasis protein cutC homolog;cutC copper transporter homolog;cutc copper transporter homolog (e.coli) APPROVED protein-coding ENSG00000119929 HGNC:24271 13100 610101 VALIDATED 1351332 CUL4A cullin 4A CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009] 13 13 13 q34 94689332 94746025 + 113862507 113919392 + 113208193 113265078 + 1580863;6480464;6907045;8554872 10230407;10585395;10597293;11337588;11564859;11673459;11861641;12029633;12477932;12481031;12504025;12504026;12609982;12732143;14578910;14609952;14739464;15009096;15057823;15448697;15489334;15548678;15811626;16036220;16103149;16137618;16260596;16322693;16341674;16344560;16407242;16407252;16467204;16473935;16503656;16527807;16537899;16620772;16678110;16861890;16861906;16949367;16951172;16964240;17041588;17079684;17314515;17360488;17429597;17452440;17609381;17620334;17626091;17630831;17699672;17855541;17954973;18173839;18247557;18274552;18332868;18381890;18464893;18514189;18524771;18541215;18593899;18606781;18703516;18775313;18781797;18794347;18826954;19056892;19208841;19256485;19275585;19275588;19276361;19287380;19295130;19458171;19481525;19557001;19615732;19617556;19667756;19759913;19798433;19808933;19818632;19929949;19995430;20008788;20012529;20064923;20069611;20089662;20178741;20190741;20223979;20347598;20360068;20368362;20380700;20395298;20551172;20800603;20847044;20870715;20932471;20951943;21098278;21139048;21145461;21205828;21228219;21249194;21550341;21693764;21778237;21890473;21906983;21957298;21963094;21987572;21987584;22032989;22118460;22120631;22134138;22145905;22157821;22174317;22190034;22342275;22405651;22414063;22422151;22438978;22466964;22474075;22570418;22692198;22822215;22863883;22902626;22910413;22935713;22939624;22939629;22952844;22956996;23000965;23063525;23085759;23109433;23201271;23297343;23357576;23478441;23555860;23849790;23951410;24045107;24082123;24116224;24209620;24298020;24305877;24337577;24360965;24368600;24412650;24420924;24522884;24648314;24654937;24719410;24816145;24912918;25117710;8681378;9694792;9721878 8451 B2RBV7;Q13619 AB012193;AB178950;ABBA01019863;ABBA01019864;AF077188;AK296700;AK314835;AL136221;AL137002;AL833355;AMYH02028739;AMYH02028740;AY365124;BC008308;BC015166;BM835927;BX439434;CA445237;CH471085;DA478924;DA574202;DB455959;NM_001008895;NM_001278513;NM_001278514;NM_003589;U58090 AAC50547;AAD45191;AAH08308;AAR13072;ABW03594;BAA33146;BAD93235;BAG37354;BAG59294;EAX09201;NP_001008895;NP_001265442;NP_001265443;NP_003580;Q13619 Hs.339735 1736326;1748937;1782826;1795648;2121614;2123386;2159138;2179366 CUL4A_1335;D13S828E;SHGC-110591;SHGC-112141;STS-W68080;STS-W80462;WI-16281;WI-21043 CUL-4A OTTHUMP00000018753;OTTHUMP00000018754;cullin-4A APPROVED protein-coding ENSG00000139842 HGNC:2554 07218 603137 VALIDATED 5131594 CUX2P1 cut-like homeobox 2 pseudogene 1 10 10 p14 10299174 10299339 - 10257211 10257376 - 100126596 ABBA01034707;AL354916;AMYH02022110;NG_028748 pseudo HGNC:33694 INFERRED 733947 CUL5 cullin 5 ENCODES a protein that exhibits ubiquitin protein ligase binding; INVOLVED IN calcium ion transmembrane transport (inferred); cell cycle arrest (inferred); cell proliferation (inferred); PARTICIPATES IN proteasome degradation pathway involving cullin-dependent ubiquitin ligases; neddylation pathway; ubiquitin/proteasome degradation pathway; ASSOCIATED WITH Brain Injuries (ortholog); Shock, Hemorrhagic (ortholog); FOUND IN Cul5-RING ubiquitin ligase complex; INTERACTS WITH 5-fluorouracil; all-trans-retinoic acid; arsenous acid 11 11 11 q22.3 105033798 105132859 + 107879408 107978495 + 108008682 108107768 + 1580863;1559277;1299331;2301432;2301433;6480464;6907045;8554872 12635525;12821186;15021886;17010517 10092517;10230407;10597293;10898738;11337588;11384984;11409851;11861641;12186903;12477932;12504025;12917106;14564014;14702039;15184056;15231748;15489334;15574592;15574593;15601820;15761153;15781449;15965468;16303161;16325183;16530799;16636053;16961462;17069461;17135358;17148442;17186378;17257057;17351129;17353931;17449237;17620599;17636018;17828303;17869271;17898068;17974915;18029348;18187417;18216112;18247557;18274552;18326044;18499212;18508766;18541215;18562529;18596088;18789977;18805092;18826954;18835386;19008196;19037258;19038776;19109396;19118439;19295130;19300455;19588889;19615732;19617556;19884766;19933325;20096141;20147392;20174454;20220118;20302626;20450485;20463065;20532212;20592083;20603330;20847044;20972266;21030588;21119685;21139048;21145461;21149631;21199876;21249194;21571098;21635549;21778237;21890473;21906983;21963094;21980433;21987572;21988832;22145963;22190034;22190036;22190037;22379088;22405651;22479405;22505724;22863883;23000965;23098073;23201271;23217182;23300442;23333304;23383273;23438482;23621690;23806657;23837592;23897481;23988114;24044920;24076655;24337577;24339204;24390320;24390335;24402281;24422669;24457600;24654937;24735396;24760825;24816145;25015289;25108430;8681378;8889549;9037604;9119394;9581826;9950950 8065 E9PP19;H0YCA0;Q93034 AA099369;AA403092;AA471067;ABBA01039871;ABBA01039872;ABBA01039873;AF017061;AF327710;AK125294;AK292575;AMYH02025541;AMYH02025542;AP002433;AP003307;BC017838;BC037203;BC063306;CH471065;H01402;KF510349;NM_003478;X81882;XM_005271682 AAB70253;AAH63306;AAK07472;BAF85264;CAA57465;EAW67101;EAW67102;NP_003469;Q93034;XP_005271739 Hs.440320 1697886;1697920;1710122;1751321;1797450;1857314;2119804;2158638 CUL5_2069;RH102471;RH102489;RH68294;SHGC-105141;SHGC-81539;STS-AA037842;STS-X81882 CUL-5;VACM-1;VACM1 Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1);OTTHUMP00000232740;OTTHUMP00000232742;Vasopressin-activated calcium-mobilizing receptor-1;cullin-5;vasopressin-activated calcium-mobilizing receptor 1;vasopressin-activated calcium-mobilizing receptor protein protein-coding ENSG00000166266 HGNC:2556 03444 601741 VALIDATED 1604392 CUL9 cullin 9 ENCODES a protein that exhibits ATP binding (inferred); ubiquitin protein ligase binding (inferred); zinc ion binding (inferred); INVOLVED IN microtubule cytoskeleton organization; protein ubiquitination; regulation of mitosis; ASSOCIATED WITH Melanoma (inferred); FOUND IN cullin-RING ubiquitin ligase complex; INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 6 6 6 p21.1 44702143 44744534 + 43149913 43192325 + 43182175 43224587 + 6480464;8554872 10521492;12421765;12477932;12526791;14702039;15489334;15558054;15964813;16672220;16875676;17229476;17298945;17332328;17380154;17474147;18230339;19850743;19851296;20198315;21139048;21487039;21890473;21906983;22117079;22586326;23000965;23251661;23287719;23443559;23667531;9734811 23113 E9PEZ1;H0Y8H9;H0YA00;Q8IWT3 AB014608;ABBA01050693;AJ318215;AK125228;AK128364;AK129649;AL133375;AMYH02013642;AY145132;BC002879;BC017747;BC028159;CH471081;CR749511;CR749841;KF458162;NM_015089;XM_006715029;XM_006715030;XM_006715031;XM_006715032;XR_427827 AAH02879;AAH28159;AAI48598;AAN61516;BAA31683;BAC85207;BAC86090;CAC85756;CAH18328;CAH18696;EAX04163;EAX04164;NP_055904;Q8IWT3;XP_006715092;XP_006715093;XP_006715094;XP_006715095 Hs.485434 1672038;1680266;1717569;1760269;2111954;2176458;2179492;2179494;2188127;5491471 D6S2165;D6S2213;G66069;MARC_14751-14752:1010684373:1;RH122089;RH46608;RH93922;SHGC-132585;SHGC-36318;WI-22259 CUL-9;DKFZp686G1042;DKFZp686P2024;H7AP1;PARC;RP3-330M21.2 OTTHUMP00000016423;OTTHUMP00000217056;UbcH7-associated protein 1;cullin-9;p53-associated parkin-like cytoplasmic protein;parkin-like cytoplasmic p53 binding protein protein-coding ENSG00000112659 HGNC:15982 06317 607489 VALIDATED 1314310 CUX2 cut-like homeobox 2 This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes of this gene have been identified on chromosomes 10 and 4. [provided by RefSeq, Jan 2013] 12 12 12 q24.12 111098413 111414529 + 111471828 111788358 + 111034024 111350554 + 1580863;6480464;8554872 11353453;12168954;12477932;15389760;15656993;19056867;19328558;19401682;20634891;22293688;23364394;8798433;9179496;9446557 23316 F5GWR6;O14529 AB006631;ABBA01019882;ABBA01019883;ABBA01019884;ABBA01019885;ABBA01019886;AC002352;AC002978;AC002979;AC005805;AF234996;AF271236;AMYH02027199;AMYH02027200;AMYH02027201;AMYH02027202;AMYH02027203;AMYH02027204;BC151245;KF455718;KF455719;NG_023039;NM_015267;XM_006719299 AAG59617;AAG59620;AAI40441;AAI51246;BAA22962;NP_056082;O14529;XP_006719362 Hs.124953 1649626;1662135;1782636;1847206;2107979;2115307;2171842;2183497 A004C03;CUTL2__4657;D12S1817;RH15677;RH48630;RH65418;SGC32083;SHGC-145997 CDP2;CUTL2 OTTHUMP00000241512;homeobox protein cut-like 2;homeobox protein cux-2 APPROVED protein-coding ENSG00000111249 HGNC:19347 10851 610648 REVIEWED 1346513 CUTA cutA divalent cation tolerance homolog (E. coli) ENCODES a protein that exhibits enzyme binding; INVOLVED IN protein localization; FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH cobalt dichloride; dimethyl sulfoxide; genistein 6 6 6 p21.32 34938742 34940488 - 33384319 33386111 - 33416542 33418288 - 6480464 10800960;10954708;12477932;14574404;15146197;15231747;15489334;16712791;17924204;18624398;18781797;19056867;19851445;20195357;21139048;21963094;22351782;22863883;22939629 51596 C9IZG4;C9IZQ5;F2Z2Q5;H0YDR4;O60888 ABBA01038148;AF106943;AF230924;AL021366;AL050332;AL533788;AL662799;AMYH02013486;BC005890;BC107751;BG472577;BU540844;BX088650;CB106834;CH471081;CN363642;NG_016137;NM_001014433;NM_001014837;NM_001014838;NM_001014840;NM_015921;XM_006715108;XM_006726096 AAD21026;AAF61220;AAH05890;AAI07752;CAA16160;CAB63779;EAX03731;EAX03732;EAX03733;EAX03734;NP_001014433;NP_001014837;NP_001014838;NP_001014840;NP_057005;O60888;XP_006715171;XP_006726159 Hs.520070 1695020;1851236;2123248;2126620;2178560;5037738 D1S3689;G44723;RH1523;RH15807;STS-Z40841;STS-Z41506 C6orf82;MGC111154 ACHAP;OTTHUMP00000029371;OTTHUMP00000029375;OTTHUMP00000215493;OTTHUMP00000215496;OTTHUMP00000215497;acetylcholinesterase-associated protein;brain acetylcholinesterase putative membrane anchor;chromosome 6 open reading frame 82;divalent cation tolerant protein CUTA protein-coding ENSG00000112514 HGNC:21101 12902 VALIDATED 1604821 CWC15 CWC15 spliceosome-associated protein ENCODES a protein that exhibits RNA binding (ortholog); INVOLVED IN mRNA splicing, via spliceosome (ortholog); PARTICIPATES IN spliceosome pathway; FOUND IN catalytic step 2 spliceosome; nucleus; spliceosomal complex; INTERACTS WITH atrazine; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 11 11 11 q21 91983570 91994563 - 94695787 94706776 - 94962622 94973612 - 6480464;6907045 10873569;11042152;11101529;11884590;11991638;12477932;15342556;17332742;18482256;18951430;20176811;20360068;21832049;21988832;22365833;22939629;23084401;24816145;8125298;8889548 51503 Q9P013;U3KQ79 ABBA01040022;AF110775;AF161497;AJ250393;AK225956;AK309042;AK314900;AMYH02025374;AP002383;BC006975;BC032629;BC040946;BM971024;BP231785;BU676427;CA413488;CH471065;FP884233;NM_016403 AAF14858;AAF29112;AAH06975;AAH32629;AAH40946;ADR82696;BAG37414;CAB96541;EAW66946;EAW66947;EAW66948;EAW66949;EAW66950;EAW66951;NP_057487;Q9P013 Hs.503597 1338094;1857901;2111402;2175950;2191183;5024198 D11S1757;D11S2222E;MARC_16003-16004:1017065174:4;WI-11443;WI-13811;WI-18020 AD002;C11orf5;Cwf15;HSPC148;ORF5 CWC15 homolog;CWC15 spliceosome-associated protein homolog;spliceosome-associated protein CWC15 homolog APPROVED protein-coding ENSG00000150316 HGNC:26939 13703 VALIDATED 1605651 CWC22 CWC22 spliceosome-associated protein ENCODES a protein that exhibits RNA binding; INVOLVED IN mRNA splicing, via spliceosome (inferred); regulation of mRNA splicing, via spliceosome (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN catalytic step 2 spliceosome; cytoplasm; nuclear speck; INTERACTS WITH copper atom; copper(0); crocidolite asbestos 2 2 2 q31.3 174403852 174466024 - 180809603 180872024 - 179944876 180007297 - 6480464;8554872 10997877;11991638;12477932;14702039;15231747;18029348;20360068;20379614;21252943;21906983;22219177;22365833;22952844;22959432;22961380;23236153;24218557;24457600;24816145;9136012 57703 B7WP74;Q9HCG8 AB046824;ABBA01062263;AC068194;AC096587;AK025635;AK026978;AK123647;AMYH02005343;BC016651;BC031216;BC041662;BC053573;BC057826;BC093952;BC093954;BC143433;BF699499;CH471058;NM_020943;XM_005246726 AAH16651;AAH31216;AAH53573;AAH57826;AAH93952;AAH93954;BAB13430;BAB15197;BAB15612;EAX10996;EAX10997;EAX10998;NP_065994;Q9HCG8;XP_005246783 Hs.311363 1697878;1717115;5113265 RH102467;RH121476;RH65718 EIF4GL;KIAA1604;NCM;fSAPb CWC22 spliceosome-associated protein homolog;OTTHUMP00000205374;OTTHUMP00000205375;functional spliceosome-associated protein b;nucampholin homolog;pre-mRNA-splicing factor CWC22 homolog APPROVED protein-coding ENSG00000163510 HGNC:29322 17220 615186 VALIDATED 1603211 CWC25 CWC25 spliceosome-associated protein homolog (S. cerevisiae) This gene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing. Alternatively spliced transcripts have been described for this gene. [provided by RefSeq, Nov 2012] 17 17 17 q12 33618412 33642555 - 36956687 36981603 - 38800434 38825350 - 6480464 12477932;16189514;19941820;20195357;21145461;21988832;8125298 54883 B4DJK2;B4DZL1;Q9NXE8 ABBA01031897;ABBA01031898;AC006449;AK000298;AK225373;AK296115;AK302983;AK316077;AMYH02033366;AW612704;BC003085;BC008833;CH471152;CR749362;HY021361;NM_017748;NR_073428;XR_429906;XR_429907;XR_430783;XR_430784 AAH03085;AAH08833;BAA91065;BAG58864;BAG64123;BAH14448;CAH18215;EAW60537;NP_060218;Q9NXE8 Hs.406223 1677276;1678221;2176723;5014051 D8S2278;RH45659;RH76647;RH94016 CCDC49;DKFZp779M0968;FLJ20291 coiled-coil domain containing 49;coiled-coil domain-containing protein 49;pre-mRNA-splicing factor CWC25 homolog;spliceosome-associated protein homolog CWC25 APPROVED protein-coding ENSG00000273559 HGNC:25989 07892 REVIEWED 1312323 CWF19L1 CWF19-like 1, cell cycle control (S. pombe) ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH arsenous acid; atrazine; copper(2+) sulfate 10 10 10 q24.31 95730012 95765394 - 101992055 102027437 - 100232298 100267680 - 737633;6480464 12477932 14702039;16169070;16385451;19773279;21139048;21890473;21906983;21963094;23000965;23182705;23477746;24816145;8125298 55280 Q69YN2;X6R7M0 ABBA01063229;AK000876;AK001860;AK023984;AK055313;AK097895;AK225590;AK295303;AL138921;AL832515;AMYH02023650;AMYH02023651;BC008746;CH471066;NM_018294 AAH08746;ADZ16031;BAA91947;BAB14754;BAG58283;CAH10625;EAW49838;EAW49839;EAW49840;EAW49841;EAW49842;EAW49843;EAW49844;NP_060764;Q69YN2 Hs.215502 1706060;1857576;2186054;2191669;5022450;5024039;5024413;5037552 D10S275;D16S325;D8S2279;L17877;MARC_4339-4340:996679552:1;RH66207;SHGC-30533;SHGC-80065 FLJ10998;RP11-316M21.3 CWF19-like protein 1;OTTHUMP00000020277 protein-coding ENSG00000095485 HGNC:25613 13101 VALIDATED 1319831 CUX1 cut-like homeobox 1 The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011] 7 7 7 q22.1 96467441 96936259 + 101459184 101927250 + 101815904 102283958 + 6480464;8554872 10373541;10607901;10803519;10852958;11371564;11403998;11509674;11584018;11748221;11953010;12052827;12115525;12193717;12429822;12438259;12477932;12522000;12665598;12743282;12766905;12853948;12891711;1301999;14702039;15004235;15099520;15269344;15489334;15656993;15718469;15950902;16169070;16529788;16574653;17140660;17227781;17369846;17496784;17681953;17682059;17725712;17957475;18029348;18347061;18403643;18614194;19015243;19332113;19361498;19394292;19471022;19590514;19635798;20237496;20379614;20442202;20689760;20842632;20848487;20936779;21139048;21245318;21330321;21471005;21532573;21674579;21693764;21890473;22180456;22306263;22438831;22584459;22965931;22990118;23000965;23085261;23212519;23255599;23590133;23667531;24316979;24429498;24816145;2481658;8125298;8468066;8662884;9332351;9792700;9799793 1523 P39880;Q13948;Q3LIA3 AB075522;ABBA01011295;ABBA01011296;ABBA01011297;ABBA01011298;ABBA01011299;ABBA01011300;ABBA01011301;ABBA01011302;ABBA01011303;ABBA01011304;ABBA01011305;ABBA01011306;ABBA01011307;AC005072;AC005086;AC005088;AC005096;AC005103;AC091390;AC092788;AF047825;AK056307;AK122726;AK125097;AK222832;AK297548;AK303151;AMYH02016425;AMYH02016426;AMYH02016427;AMYH02016428;AMYH02016429;AMYH02016430;AMYH02016431;AMYH02016432;BC007204;BC012323;BC025422;BC040199;BC045562;BC066592;CH471197;DC410774;KF458531;KF458538;L12579;M74099;NG_029476;NM_001202543;NM_001202544;NM_001202545;NM_001202546;NM_001913;NM_181500;NM_181552;XM_005250150;XM_005250151;XM_005250154;XM_006715854;XM_006715855;XM_006715856 AAA35654;AAC78778;AAH25422;AAH66592;AAP22331;AAS07388;AAS07406;AAS07410;AAS07523;BAD96552;BAE45765;BAG53691;BAG54140;BAG59942;BAG64254;EAW50227;EAW50228;NP_001189472;NP_001189473;NP_001189474;NP_001189475;NP_001904;NP_852477;NP_853530;P39880;Q13948;XP_005250207;XP_005250208;XP_005250211;XP_006715917;XP_006715918;XP_006715919 Hs.191482 1336861;1337238;1340994;1341901;1656164;1662635;1668038;1668156;1700838;1711236;1720231;1720257;1725111;1764955;1771004;1776031;1776100;1777038;1786458;1791962;1849094;1856738;2114588;2115547;2116477;2120360;2120496;2131119;2141224;2154141;2155102;2156349;2159815;2160740;2163469;2163792;2164309;2182678;2183421;2189401;5109735;7183729;7183754;7184346;7184348;7185448 AF007375;CUTL1;D12S1228E;D7S1616;D7S2433;D7S2686;D7S515;D7S518;D7S543E;D7S546E;D7S666;D7S740;GDB:1317346;GDB:1317368;GDB:1318673;GDB:4584979;GDB:4585337;GDB:4585345;GDB:4585377;GDB:4585601;MARC_4357-4358:991938494:5;PMC133930P1;RH104044;RH118854;RH123864;RH123877;RH12633;RH16539;RH36434;RH44454;RH48012;RH48359;RH69797;SHGC-148514;SHGC-172596;SHGC-84975;STS-N22942;WI-13779;WI-17166;WI-21075;WI-21899 CASP;CDP;CDP/Cut;CDP1;COY1;CUTL1;CUX;Clox;Cux/CDP;FLJ31745;GOLIM6;Nbla10317;p100;p110;p200;p75 CCAAT displacement protein;OTTHUMP00000211510;OTTHUMP00000211511;OTTHUMP00000211512;OTTHUMP00000211513;OTTHUMP00000211514;OTTHUMP00000211515;OTTHUMP00000211516;OTTHUMP00000211517;OTTHUMP00000211518;cut homeobox;cut homolog;cut-like 1, CCAAT displacement protein;golgi integral membrane protein 6;homeobox protein cut-like 1;homeobox protein cux-1;putative protein product of Nbla10317 APPROVED protein-coding ENSG00000257923 HGNC:2557 00295 116896 REVIEWED 1321752 CWC27 CWC27 spliceosome-associated protein homolog (S. cerevisiae) ENCODES a protein that exhibits peptidyl-prolyl cis-trans isomerase activity (inferred); INVOLVED IN mRNA splicing, via spliceosome (inferred); protein folding (inferred); protein peptidyl-prolyl isomerization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN catalytic step 2 spliceosome; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2-methylcholine 5 5 5 q12.3 61061675 61311486 + 64064755 64314590 + 64768928 65018763 + 6480464;8554872 11329013;11991638;12477932;12975309;18850631;19941820;20379614;21139048;22365833;22939629;23251661;24816145;8125298;9610721 10283 D6REK3;Q6UX04 ABBA01048337;AC008898;AC092354;AC109465;AF039692;AF039693;AK225105;AK225161;AK308223;AK312954;AMYH02011418;AMYH02011419;AMYH02011420;AMYH02011421;AMYH02011422;AY358569;BC012117;BG193598;BI324922;BX647971;CH471137;NM_001297644;NM_001297645;NM_005869;XM_005248399;XM_006714516;XM_006714517;XM_006714518 AAC18041;AAC18042;AAH12117;AAQ88932;EAW51364;EAW51365;NP_001284573;NP_001284574;NP_005860;Q6UX04;XP_005248456;XP_006714579;XP_006714580;XP_006714581 Hs.371372 1710308;1717177;1751705;1771218;2108447 BCD1519;RH121511;SDCCAG10_9082;SHGC-105747;SHGC-85262 NY-CO-10;SDCCAG10 OTTHUMP00000082703;OTTHUMP00000221956;PPIase CWC27;PPIase SDCCAG10;antigen NY-CO-10;peptidyl-prolyl cis-trans isomerase CWC27 homolog;peptidyl-prolyl cis-trans isomerase SDCCAG10;serologically defined colon cancer antigen 10 APPROVED protein-coding ENSG00000153015 HGNC:10664 11541 VALIDATED 1353922 CUZD1 CUB and zona pellucida-like domains 1 INVOLVED IN trypsinogen activation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN zymogen granule membrane (ortholog); INTERACTS WITH all-trans-retinoic acid; quercetin; trichostatin A 10 10 10 q26.13 118298121 118312137 - 124591671 124605691 - 122832155 122846175 - 633090;6480464;8554872 10542259 11416020;12361947;12477932;12975309;15164054;15184879;15588985;16862170;22985796;23710207 50624 Q86UP6 ABBA01062840;AC073585;AF305835;AK289445;AL359747;AMYH02023957;AY260047;AY260048;AY260049;AY260050;BC136755;BC144398;BX538283;BX538284;BX648572;CH471066;NM_022034;NR_037912 AAG23215;AAI36756;AAP15458;AAP15459;AAP15460;AAP15461;BAF82134;CAD98079;CAD98080;EAW49303;NP_071317;Q86UP6 Hs.647182 5123857 SHGC-57260 ERG-1;UO-44 CUB and ZP domain-containing protein 1;CUB and zona pellucida-like domain-containing protein 1;OTTHUMP00000020674;estrogen regulated gene 1;transmembrane protein UO-44 protein-coding ENSG00000138161 HGNC:17937 06476 VALIDATED 1320784 CWF19L2 CWF19-like 2, cell cycle control (S. pombe) ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH hydrogen peroxide; methyl methanesulfonate; valproic acid 11 11 11 q22.3 104362890 104483437 - 107197071 107328572 - 107326345 107457846 - 737633;6480464;8554872 12477932 14702039;16344560;18398821;20379614;20677014;21832049 143884 H0YE03;H7C3G7;Q2TBE0 ABBA01039881;ABBA01039882;ABBA01039883;ABBA01039884;AI148333;AK056905;AK126881;AK293001;AMYH02025527;AMYH02025528;AMYH02025529;AMYH02025530;AMYH02025531;AP000766;AP001823;BC016611;BC028043;BC056241;BC070142;BC107418;BC110439;BC110440;BC110441;BC110442;BC118669;BX647832;BX648704;BX649022;CH471065;DA291472;NM_152434;XM_006718768 AAH28043;AAH56241;AAI10440;AAI10441;AAI10442;AAI10443;AAI18670;BAB71307;BAF85690;EAW67085;EAW67086;NP_689647;Q2TBE0;XP_006718831 Hs.212140 1689215;1769028;1782342;2161214;2171802 D11S2228E;D11S4021;RH36538;RH92467;SHGC-145207 FLJ32343 CWF19-like protein 2;OTTHUMP00000202828 protein-coding ENSG00000152404 HGNC:26508 13102 VALIDATED 2291815 CXADRP2 coxsackie virus and adenovirus receptor pseudogene 2 15 15 15 q11.2 1 829 - 22014403 22016878 - 21371493 21373968 - 646243 AC060814;AC068446;AC136352;AMYH02030008;BX095347;NR_024387 Hs.720910 pseudo HGNC:33973 VALIDATED 2291817 CXADRP1 coxsackie virus and adenovirus receptor pseudogene 1 INTERACTS WITH 17beta-estradiol; paracetamol; progesterone 18 21 21 q11.2 14541826 14544277 + 15048262 15050713 + 13675941 13678392 + 6480464 10543405 653108 AL050303;AMYH02037514;NG_008739 CAR;CXADRP pseudo HGNC:23770 INFERRED 735910 CX3CL1 chemokine (C-X3-C motif) ligand 1 ENCODES a protein that exhibits chemokine activity; INVOLVED IN chemotaxis; positive regulation of calcium-independent cell-cell adhesion; positive regulation of inflammatory response; ASSOCIATED WITH Arthritis, Rheumatoid; Asthma; Common Cold; FOUND IN cell surface; extracellular region; integral component of membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3-dimethoxynaphthalene-1,4-dione; 2-methylcholine 16 16 16 q13 41906410 41918956 + 57406414 57418956 + 57372502 57385044 + 1580863;4140458;4891887;4891945;4891956;4891990;4891998;4891906;4891907;4891973;4892001;4892002;4891883;4891886;4891898;4891946;4891964;4891965;4891994;4891995;4891888;2304251;4892022;4891897;4143386;4891889;4891972;4891992;4891968;4891892;6480464;9491790;9491793;9491762;9491779;9491783;9491777;9491765;9068463;9491778;9491789;9491763;9479740;9491791;9491776;9491761 11465708;11870871;12028445;12053272;14605272;14657873;15131578;15153618;15153757;15608300;16018993;16030495;16053521;16113250;16651033;17302066;18006432;18448252;18630689;18772344;19249394;19282612;19327232;19368990;19563789;19590241;19648777;19948918;20053825;20669672;20696083;20869263;21224760;21347560;21481949;22213034;22394569;22647647;22659346;23470165;23578461;23829599;24447880;24781382 10458770;10493829;10640747;10731151;10770945;10869418;10940926;11238035;11495925;11777952;11909868;12016106;12042278;12055230;12076860;12100035;12125082;12126650;12477932;12551893;12569179;12616493;12639246;12667665;12714508;12727021;12810688;12824004;12969973;12969992;14514721;14533779;14580149;14581400;14665693;14688370;14747189;15013759;15111313;15223613;15361546;15489334;15529011;15579768;15621116;15726664;15774461;16224053;16645504;16767549;16877565;17002687;17062081;17075825;17082482;17132725;17151939;17241867;17415055;17471309;17487393;17505143;17611763;17885215;17895402;17907166;18230685;18296082;18367676;18436581;18523306;18606701;18725411;18778890;18799080;18799722;18800027;18938112;19030200;19047106;19132243;19153557;19155311;19214751;19324423;19351602;19369458;19372452;19432809;19605482;19723636;19729601;19840952;19850645;19851523;19913121;19923448;20019415;20034466;20041188;20158572;20231691;20237149;20237496;20482449;20485444;20511186;20512991;20559678;20628086;20664972;20668227;20880200;20922190;21168500;21398580;21463954;21525510;21527754;21546901;21638128;21750716;21768350;22093090;22123179;22177089;22321225;22322207;22422195;22572859;22639377;22641052;22652599;22664781;22692452;22709495;22739755;22798324;22897138;22916279;23002075;23014777;23029290;23086480;23117657;23125415;23168573;23229614;23261412;23303826;23332170;23477808;23584220;23645563;23724129;23857671;23887641;23897050;23912959;23956503;23974513;24006262;24060055;24068281;24185682;24270813;24294368;24307760;24324211;24352739;24427339;8125298;9024663;9177350;9390561;9691168;9726990;9826729;9931005 6376 A0N0N7;H3BSR6;H3BV86;J3QRA1;P78423 AB209037;ABBA01025270;AC004382;AC009052;AK222692;AK223351;AK313806;AMYH02032106;BC001163;BC016164;CH471092;CR457426;EF064745;GU047346;NM_002996;U84487;U91835 AAB49679;AAB50014;AAC24307;AAH01163;AAH16164;ABK41928;ABM81630;ABM82797;ABM84814;ABM85985;BAD92274;BAD96412;BAD97071;BAG36542;CAG33707;EAW82919;NP_002987;P78423 Hs.531668 1680084;1686346;2110349;2157601;2165855;5015619;5022578;5037552 CX3CL1__7873;D11S3114;D16S2589E;D1S1423;D8S2279;RH67976;RH79608;RH86440 ABCD-3;C3Xkine;CXC3;CXC3C;NTN;NTT;SCYD1 C-X3-C motif chemokine 1;CX3C membrane-anchored chemokine;OTTHUMP00000164674;fractalkine;neurotactin;small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin);small inducible cytokine subfamily D (Cys-X3-Cys), member-1;small-inducible cytokine D1 protein-coding ENSG00000006210 HGNC:10647 03529 601880 PROVISIONAL 1345190 CXB3S coxsackie virus B3 sensitivity ASSOCIATED WITH COXSACKIEVIRUS B3 SUSCEPTIBILITY (inferred) 7240710 1526 HGNC:2560 120050 1602204 CWH43 cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) INVOLVED IN GPI anchor biosynthetic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; progesterone; valproic acid 4 4 4 p11 49436682 49512564 + 48988264 49064096 + 48986247 49062079 + 6480464;8554872 12477932;16344560;17714445;17761529;22095909 80157 B4DU47;B7ZAJ2;D6RDZ8;E7EQL2;Q9H720 ABBA01014355;AC020593;AI377551;AK025164;AK300495;AK316307;AMYH02009177;BC137387;BC137388;CH471069;DA426878;NM_001286791;NM_025087;XM_005248126;XM_006714030 AAI37388;AAI37389;BAB15080;BAG62209;BAH14678;EAW93078;NP_001273720;NP_079363;Q9H720;XP_005248183;XP_006714093 Hs.479703 1664571;1689087;1706702;1850582;2168534;2177423;2177425;7184892 D4S253;D4S525;G34100;L00893;RH91856;SHGC-51677;SHGC-82855 CWH43-C;FLJ21511 OTTHUMP00000158791;OTTHUMP00000220631;PGAP2-interacting protein;cell wall biogenesis protein 43 C-terminal homolog APPROVED protein-coding ENSG00000109182 HGNC:26133 08638 VALIDATED 1346916 CXADR coxsackie virus and adenovirus receptor The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011] 21 21 21 q21.1 4060105 4114040 + 18885224 18965897 + 17512906 17593579 + 1580863;6480464;6907045;8554872 10490761;10543405;10567268;10666333;11080637;11316797;11457744;11479928;11549277;11573093;11734628;11752156;12021372;12297051;12468544;12477932;12869515;12920584;14967025;14978041;15110532;15173092;15302935;15304526;15364909;15456946;15489334;15533241;15572376;15596863;15778494;15800062;15831949;15956603;15958612;16101391;16189514;16284735;16780588;16831563;16923808;16937527;16951199;16956941;17031523;17118917;17210569;17278108;17494992;17506949;17538635;17675666;17896511;18029348;18081225;18552123;18558015;18618240;18959124;19007771;19100061;19115936;19119424;19131551;19132065;19142187;19322201;19467232;19495568;19502044;19506548;19527712;19590529;19615283;19773761;19925382;19933937;19957088;20361046;20379614;20622880;20862245;20949078;21103663;21139048;21389059;21420451;21431326;21468049;21641134;21712047;21791114;21843868;21850251;21906983;21982860;22190856;22708837;22809504;22889411;22914544;22939629;23000965;23307165;23503462;24015300;24022195;24096322;24291282;24623425;9036860;9096397;9144533;9420240 1525 P78310 ABBA01057120;ABBA01057121;ABBA01057122;AF124598;AF169366;AF200465;AF242865;AI498294;AK313526;AMYH02037559;AMYH02037560;AMYH02037561;AMYH02037562;AP000963;AP000967;AY072910;AY072911;AY072912;BC003684;BC010536;BM547121;BT019876;CH471079;CV570985;GU474812;NG_029458;NM_001207063;NM_001207064;NM_001207065;NM_001207066;NM_001338;U90716;Y07593 AAC51234;AAD31772;AAF05908;AAF24344;AAG01088;AAH03684;AAH10536;AAL68878;AAL68879;AAL68880;AAV38679;ABM82107;ABM85289;ADC84500;BAG36305;CAA68868;EAX10030;EAX10031;EAX10032;EAX10033;NP_001193992;NP_001193993;NP_001193994;NP_001193995;NP_001329;P78310 Hs.627078 1679930;1688128;1689360;1756215;1794870;1794872;2132624;2177441;2183857;5014051;5022200 D8S2278;G19855;L18426;PMC64780P1;PMC64780P2;RH10657;RH15618;RH79230;SHGC-143084;SHGC-37161;SHGC-51804 CAR;CAR4/6;HCAR;HCVADR 46 kD coxsackievirus and adenovirus receptor (CAR) protein;CVB3 binding protein;CVB3-binding protein;OTTHUMP00000083232;OTTHUMP00000083233;OTTHUMP00000083234;OTTHUMP00000083235;OTTHUMP00000208017;coxsackie virus B receptor;coxsackievirus B-adenovirus receptor;coxsackievirus and adenovirus receptor APPROVED protein-coding ENSG00000154639 HGNC:2559 11804 602621 REVIEWED 2299986 CXADRP3 coxsackie virus and adenovirus receptor pseudogene 3 18 18 18 p11.21 14541777 14543217 + 14477951 14498705 - 14477952 14498706 - 12477932 440224 ABBA01074060;ABBA01074061;AMYH02034358;AP006261;BC089388;HG509806;NR_024076 Hs.721675 pseudo ENSG00000265766 HGNC:33974 PROVISIONAL 1343759 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014] 4 4 4 q21 72095237 72097087 + 74735109 74737019 + 73869392 73871302 + 1580863;5134972;5134994;5135240;5134957;4890939;5135449;5135001;5135231;5134979;5131471;4143520;5135245;5135254;5135269;5134978;4145366;5134995;5134996;5135234;5135253;5135456;5134975;5128673;4889415;5134954;5134956;5134983;5135274;5134961;5134970;4891456;5134986;5134960;4889403;5134959;4145368;5135034;5135060;5135270;5135004;5135011;5135252;2307010;4891479;5134993;5134992;5134958;5135062;5134997;5135007;5135271;5134982;5135009;5135249;4145452;4145446;6480464;6484113;6907045;7175314 10069420;10498645;10655268;11052817;11254553;11342480;11950713;14527170;17023518;17348295;18391855;18642776;19056659;19096963;19148791;19178793;19471279;19497959;19515386;19558673;19590302;19597126;19620882;19671179;19741068;19818401;19951473;20117814;20160675;20232121;20371397;20395558;20656925;20709317;20724665;20728373;20731855;20818377;20843364;20858153;20868517;20958976;21048090;21092002;21109308;21124781;21168948;21254154;21356370;21442011;21535896;21677145;21723409;21743025;8833037;9698165;9766630 10095777;10343098;10437780;10820279;10881932;11023497;11349045;11390582;11470861;11524231;11816717;12012624;12089333;12388718;12477932;12591113;12734381;12744776;12949249;13679391;1379593;14530367;15133028;15218300;15340161;15489334;15492419;15843053;15896780;15994316;16086366;16098041;16567391;16617094;16712791;16934308;16941962;17022986;17060621;17062666;17096385;17456471;17466952;17581194;17703315;17703412;17999991;18056965;18065201;18211687;18240029;18276907;18283335;18451219;18577758;1906501;19103522;19176759;19258312;19258923;19430878;19435811;19549892;19780053;19838218;19906815;20042592;20195728;20237496;20495539;20503287;20621720;20628624;20685145;20702723;20731665;21042742;21075844;21220697;21257927;2129556;21343381;21396766;21531038;21820916;2182761;21928244;21994122;22030312;22069268;22125641;22129625;2217207;22173151;22183310;22251138;22615136;22732298;22770218;22902060;22975476;23027620;23043537;23128233;23198952;23207068;23225384;23269549;23334998;23383108;23389772;23444042;23479735;23502337;23505918;23519936;23554905;23732813;23815949;23867815;23890481;23898208;23953856;23967336;24023680;24250750;24260493;24273934;24600982;24619879;24981451;2655583;2670560;2890161;2909392;2970963;3264403;7561066;7592830;7806518;8089846;8380167;8397104;8550564;8597869;8702798;8940121;8942852;9058825;9079638;9152234;9551928;9725262 2919 P09341;Q6LD34 ABBA01022993;AC092438;AMYH02009472;BC011976;BG121608;BM554448;BM996663;BQ000742;BT006880;CB112830;CH471057;HI519534;J03561;JA514411;NM_001511;NR_046035;U03018;X12510;X54489 AAA03452;AAA35933;AAH11976;AAP35526;ABM84517;ABM85867;CAA31027;CAA38361;CBX54348;CCD62019;EAX05693;NP_001502;P09341 Hs.708652;Hs.789 1663969;1690224;1714135;1773715;2124528;2152461 D4S2819;G33800;RH119675;RH17698;SHGC-67281;SHGC4-1010 FSP;GRO1;GROa;MGSA;MGSA-a;NAP-3;SCYB1 C-X-C motif chemokine 1;GRO-alpha(1-73);GRO1 oncogene (melanoma growth stimulating activity, alpha);GRO1 oncogene (melanoma growth-stimulating activity);MGSA alpha;OTTHUMP00000219186;fibroblast secretory protein;growth-regulated alpha protein;melanoma growth stimulatory activity alpha;neutrophil-activating protein 3 APPROVED protein-coding ENSG00000163739 HGNC:4602 01119 155730 REVIEWED 1352124 CX3CR1 chemokine (C-X3-C motif) receptor 1 Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 3 3 3 p21.3 39246596 39264836 - 39304985 39323226 - 39263494 39281735 - 1580863;4891901;4891905;4891907;4891972;4891885;4891893;4891898;4891903;4891900;4891904;4891945;4892002;4144897;4892014;4892018;4891895;4891946;4891998;4892001;4892015;4892020;4891882;4891942;4892027;4891995;4891891;4891896;4891968;4891992;4891969;4892016;4891964;4891973;6480464;7240710;9479740;9491384;9491764;9479077;9491762;9491768;9491751;9365153;9491783;9479741;9491777;9491779;9491394;8661224;8661636;9354422;9384823;9387859;9491391;9491765;9491789;9068463;9491385;6893428;9491396;9491776;9479078;9491759;8661752;9491767;9491393;9491792;9491395;9491397;9491791;9479739;4892017;9491766;9375525;9491761;9491392;9491390;9491778 10432400;11465708;11532900;11870871;12028445;12053272;12600915;12941892;14605272;15131578;15153757;15208270;15608300;15786508;15944936;16030495;16053521;16324111;16424189;16584113;16627550;16645504;16651033;16799040;17002687;17082760;17123734;17182651;17264819;17505143;17652758;18322241;18448252;19327232;19368990;19590241;19648777;19689733;19733456;19959384;20523302;20524966;20609517;20736819;20836883;20921832;21037587;21180278;21224760;21347560;21481949;22377584;22545116;22647647;22659346;22692452;22816662;23110394;23142052;23299473;23307960;23424002;23470165;23578461;23855980;23887641;24036597;24142887;24447880;24706865;24718616;24781382;24821910;24989686;25050486 10702689;10731151;10754298;10869418;10940926;11264153;11391174;11535497;11766992;11781291;11804551;11818437;11856781;11909868;12032878;12055230;12076860;12110009;12125082;12234253;12459434;12477932;12535747;12545080;12551893;12626895;12646802;12889997;12975017;14581400;14607932;14657873;14747189;14990582;15118174;15256432;15347678;15361546;15489334;15579768;15644279;15681302;15726664;15809764;15871132;15886814;16026776;16144955;16224053;16284527;16314800;16317113;16344560;16411402;16478397;16480760;16524739;16675737;16865553;16908772;16979977;17057786;17151939;17241867;17456471;17471309;17476338;17579663;17611763;17653321;17672867;17725420;17804530;17884099;17885215;17895402;17900259;17938902;18006432;18051367;18060687;18078680;18194290;18296082;18391751;18424766;18519809;18609106;18615095;18617779;18633131;18636124;18676680;18772344;18845960;18938112;18974152;18996288;19001328;19015224;19032065;19056482;19064579;19155311;19170196;19264973;19369458;19372452;19420105;19433914;19439304;19563789;19571253;19578796;19587779;19625176;19628406;19692168;19755791;19913121;19915801;19923448;20019415;20038229;20041188;20047517;20102414;20142115;20146987;20184883;20237496;20305648;20439195;20442634;20453000;20506646;20511186;20531015;20538655;20628086;20667981;20974991;21038415;21091093;21132346;21157378;21278339;21320123;21492740;21525510;21527754;21546901;21621535;21636249;21744265;21771791;21820915;21930959;21933397;22064656;22086059;22093090;22123179;22183310;22233287;22261545;22313962;22383701;22550960;22572859;22614623;22639377;22731642;22747084;22748631;22842622;22897138;22916279;22916723;22941344;22952674;23086480;23125415;23206327;23229614;23303826;23388733;23414540;23570708;23584220;23716478;23857671;23956503;23974513;24033604;24060055;24084767;24177428;24245985;24270813;24287500;24307998;24324211;24342397;24352739;25024136;7590284;7646814;8125298;9390561;9726990;9931005 1524 C9JLM2;C9JN40;P49238 ABBA01024808;AC092053;AI400350;AK225764;AK307911;AK312373;AMYH02006584;AMYH02006585;AY016370;BC017855;BC028078;BG541473;CH471055;DA396634;DA406242;DB274136;EF064744;EU006531;NG_016362;NM_001171171;NM_001171172;NM_001171174;NM_001337;U20350;U28934 AAA87032;AAA91783;AAH28078;AAK08627;ABK41927;ABM81989;ABM85169;ABS29268;BAG35291;EAW64575;EAW64576;NP_001164642;NP_001164643;NP_001164645;NP_001328;P49238 Hs.78913 1660080;1679335;1735232;1792066;1795652;2114192;2156921;2168141;5037552 CX3CR1_554;D3S2853E;D3S2899E;D8S2279;PMC135988P14;RH18026;RH91803;SGC44481;SHGC-44481 CCRL1;CMKBRL1;CMKDR1;GPR13;GPRV28;V28 C-X3-C CKR-1;CMK-BRL-1;CMK-BRL1;CX3C chemokine receptor 1;G protein-coupled receptor 13;G-protein coupled receptor 13;OTTHUMP00000209587;OTTHUMP00000209588;OTTHUMP00000209589;beta chemokine receptor-like 1;chemokine (C-C) receptor-like 1;chemokine (C-X3-C) receptor 1;fractalkine receptor APPROVED protein-coding ENSG00000168329 HGNC:2558 03277 601470;607339;609423;613784 REVIEWED 1316122 CXCL11 chemokine (C-X-C motif) ligand 11 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This antimicrobial gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] 4 4 4 q21.2 74255322 74257722 - 76954835 76957350 - 76033682 76036197 - 1580863;5135435;5135451;5135438;5135436;5135283;5135448;5135459;6480464;6907045;8554872 12097412;14991597;15618188;17550373;17925429;19218194;21124994 10065899;10233762;10386863;10395932;11110785;11390394;11559369;12055261;12126650;12162873;12169689;12477932;12695288;12782716;12787142;12847282;12884299;12949249;15122750;15150261;15273303;15308116;15342556;15489334;15653416;15814716;15885315;16081539;16200621;16210647;16358960;16368892;17142784;17255201;17363734;18209084;18240029;18258269;18275857;18316607;18411283;18515987;18577758;18645041;18669615;19175890;19274094;19800124;19875106;19939453;20036838;20056178;20529825;20810571;20848514;21438871;21442287;21470996;21645215;21724697;21962843;22008312;22160826;22168752;22367045;22691213;23012327;23158864;23225384;23527708;23559389;23600831;23985752;24063316;8798467;9370294;9625760;9730616 6373 O14625;Q96KF0 A82120;ABBA01063355;AC112719;AF002985;AF030514;AF053972;AF077867;AF352781;AL703031;AMYH02009505;BC005292;BC012532;BC110986;BP289021;BT006787;CH471057;NM_001302123;NM_005409;U59286;U66096;Y15220;Y15221 AAB17374;AAC39775;AAC51845;AAD10206;AAD38327;AAD38867;AAH05292;AAH12532;AAI10987;AAK52900;AAP35433;ABM86629;ABW03806;CAA75510;CAB51859;CAB69205;EAX05774;NP_001289052;NP_005400;O14625 Hs.632592 H174;I-TAC;IP-9;IP9;MGC102770;SCYB11;SCYB9B;b-R1 C-X-C motif chemokine 11;OTTHUMP00000160594;OTTHUMP00000219213;OTTHUMP00000219214;beta-R1;interferon gamma-inducible protein 9;interferon-inducible T-cell alpha chemoattractant;small inducible cytokine B11;small inducible cytokine subfamily B (Cys-X-Cys), member 11;small inducible cytokine subfamily B (Cys-X-Cys), member 9B;small-inducible cytokine B11 APPROVED protein-coding ENSG00000169248 HGNC:10638 05329 604852 REVIEWED 1343594 CXCL15 chemokine (C-X-C motif) ligand 15 337989 AF082859 HGNC:19150 1342514 CXCL13 chemokine (C-X-C motif) ligand 13 B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq, Oct 2014] 4 4 4 q21 75734287 75834362 + 78432907 78532988 + 77511753 77611834 + 1580863;6480464 10706668;11554781;11708770;11877260;12393412;12406091;12477932;12732660;12949249;14763921;15284119;15489334;15546958;15780119;15929033;15934082;15965952;16169070;16318584;16531331;16543475;16678487;17082584;17082648;17207965;17474076;17495955;17562761;17592274;17652619;17703412;17709502;17949547;18172003;18292286;18354239;18528326;18550853;18566383;18577758;18668547;18757429;18773213;18780835;18781150;18792075;19031272;19095563;19258923;19375853;19575892;19671684;19773382;19774453;19805441;19807029;19816883;19955043;19996075;20011704;20042073;20056178;20109310;20223524;20237496;20400187;20412587;20495539;20503287;21078761;21084753;21135023;21191639;21211990;21305530;21320077;21372118;21576203;21642390;21645150;22000402;22008312;22036953;22044682;22330139;22335599;22591862;22607768;22718279;22840692;22913878;22975753;23109547;23175382;23189125;23247143;23250934;23322500;23383108;23570798;23904442;23925290;24027428;24138885;24337540;24628285;24907903;9463416;9486651 10563 O43927;Q53X90 ABBA01063371;ABBA01063372;ABBA01063373;AC092674;AC093758;AF029894;AF044197;AJ002211;AMYH02009524;AMYH02009525;BC012589;BI836728;CA418514;CH471057;CR407624;EF064743;NM_006419;XM_006714063 AAC14402;AAC17980;AAH12589;AAY40955;ABK41926;ADQ33180;CAA05250;CAG28552;EAX05816;EAX05817;NP_006410;O43927;XP_006714126 Hs.100431 1645608;2180519 D4S3265;SHGC-59613 ANGIE2;BCA-1;BCA1;BLC;BLR1L;SCYB13 ANGIE;B-cell chemoattractant;B-cell-attracting chemokine 1;B-cell-homing chemokine (ligand for Burkitt's lymphoma receptor-1);B-lymphocyte chemoattractant;C-X-C motif chemokine 13;CXC chemokine BLC;OTTHUMP00000160704;b cell-attracting chemokine 1;b lymphocyte chemoattractant;chemokine (C-X-C motif) ligand 13 (B-cell chemoattractant);small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant);small-inducible cytokine B13 APPROVED protein-coding ENSG00000156234 HGNC:10639 05513 605149 REVIEWED 1354459 CXCL16 chemokine (C-X-C motif) ligand 16 ENCODES a protein that exhibits chemokine activity; low-density lipoprotein receptor activity (ortholog); INVOLVED IN positive regulation of cell growth; positive regulation of cell migration; response to cytokine; ASSOCIATED WITH Scleroderma, Systemic; FOUND IN extracellular space; INTERACTS WITH all-trans-retinoic acid; arsane; arsenic atom 17 17 17 p13 4652030 4658426 - 4636828 4643223 - 4733529 4739928 - 1580863;5135279;6480464;8554872 21303517 11017100;11060282;11290797;12477932;12902461;12975309;14625285;14634054;14699018;14702039;14988089;15128827;15489334;15555552;15634930;15836657;15883016;15934948;16142401;16200580;16431903;16849465;17207965;17300746;17363916;17703412;17803654;17855433;18194461;18195710;18240029;18248772;18250446;18279707;18293410;18339644;18344492;18373975;18480749;18514099;18565283;18577758;18636150;18760678;19070478;19258923;19322201;19415545;19426159;19435795;19494317;19528340;19575365;19578796;19605674;19674076;19690611;19729872;19913121;19919988;19954776;20334513;20503287;20621591;20628086;20646641;20848509;20960183;21233446;21467783;21468586;21471570;21492481;21505717;21527066;21612780;21638128;21773780;21832049;21845497;22055341;22113484;22278019;22378888;22454615;22627199;22863086;23009930;23229614;23398954;23428418;23628207;23633118;23743627;24064021;24069377;24284794;24302814;24460887;24489966;24507753;24513807;24518602 58191 I3L333;Q9H2A7 ABBA01054772;AC091153;AF275260;AF301016;AF337812;AK027389;AK292114;AK315017;AMYH02032832;AW264069;AY358909;BC017588;BC044930;CA307348;CH471108;DC373874;EF064742;JC209418;JC209420;NM_001100812;NM_022059 AAG31750;AAG34365;AAH17588;AAH44930;AAK38275;AAQ89268;ABK41925;ADQ32484;BAB55078;BAF84803;BAG37507;CDM22050;CDM22051;EAW90416;NP_001094282;NP_071342;Q9H2A7 Hs.745037 1697918;1699510;2162217;5015961;5022651 D11S2921;D15S1477;RH102488;RH103349;STS-W86753 CXCLG16;SR-PSOX;SRPSOX C-X-C motif chemokine 16;CXC chemokine ligand 16;OTTHUMP00000115953;scavenger receptor for phosphatidylserine and oxidized low density lipoprotein;small-inducible cytokine B16;transmembrane chemokine CXCL16 protein-coding ENSG00000161921 HGNC:16642 16103 605398 VALIDATED 1316586 CXCL14 chemokine (C-X-C motif) ligand 14 This antimicrobial gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq, Sep 2014] 5 5 5 q31 131030125 131038702 - 134906369 134914969 - 135570679 135579279 - 1580863;6480464 10049774;10854217;10946286;11076863;11256614;11561000;12477932;12949249;12975309;14702039;15489334;15489336;15548693;15651028;15843547;16175604;16303743;16381901;16884687;16987528;17703412;18054154;18676742;18762809;18765527;18809336;19109182;19172796;19218429;19258923;19276362;19339694;19833716;19834535;19903701;20056178;20067447;20212097;20237496;20379614;20424473;20460540;20460740;20478268;20503287;20562917;20628624;20737948;20815772;21556757;21832049;21988832;22382027;22910931;23161284;23294544;23597004;23669361;23982764;24033560;24099668;24710408;8889548 9547 O95715 AB543622;ABBA01068725;AC034206;AF073957;AF086340;AF106911;AF144103;AI743431;AK056613;AK075514;AMYH02012256;AW614568;AY358906;BC003513;BM670989;BT007080;BU729234;BX106404;CS051437;NM_004887 AAD03839;AAD38944;AAF78449;AAH03513;AAP35743;AAQ89265;BAG52160;BAI78370;CAI72212;CAL37718;NP_004878;O95715 Hs.483444 1721709;1797454;1850057;2136043;2165906 A002I14;A005K28;CXCL14__2459;G59717;WI-13424 BMAC;BRAK;KS1;Kec;MGC10687;MIP-2g;MIP2G;NJAC;SCYB14 C-X-C motif chemokine 14;CXC chemokine in breast and kidney;MIP-2 gamma;OTTHUMP00000159410;bolekine;breast and kidney;chemokine BRAK;small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK);small-inducible cytokine B14;tumor-suppressing chemokine APPROVED protein-coding ENSG00000145824 HGNC:10640 16049 604186 REVIEWED 735621 CXCL2 chemokine (C-X-C motif) ligand 2 This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CXC subfamily, is expressed at sites of inflammation and may suppress hematopoietic progenitor cell proliferation. [provided by RefSeq, Sep 2014] 4 4 4 q21 72322837 72325084 - 74962752 74964997 - 74097035 74099280 - 1580863;5134975;5135233;5135236;5135269;5134960;5134961;5135002;5135064;5134974;5135026;5135056;2306999;5135068;5135449;5135271;5134984;5129686;5135252;5135254;5135255;4891479;5135234;5135023;4145114;5135025;5135253;5135034;5135062;2307010;5135247;5135251;5135235;5134959;5134970;4891456;4891425;5135037;5135230;5135231;5135024;5135065;5135036;5135270;5135060;5147925;6480464;6907045 10069420;10498645;10655268;11052817;11254553;11342480;11580116;14527170;15557650;17804032;18364083;18367723;18391855;18434445;18642776;18830379;19106808;19210118;19239431;19515386;19558673;19671179;19691980;19794970;20045013;20065113;20096665;20160675;20220550;20454613;20472255;20709317;20724665;20728373;20818377;20967263;21251691;21277990;21301926;21549112;21618001;21723409;21743025;9284162;9766630 10600366;10725737;10928473;11134351;11559650;12419803;12477932;12508094;12556377;12892904;12949249;15489334;15614130;16421598;16697212;17466952;17703412;17944017;17999991;18191274;18240029;18275857;18322244;18577758;18624398;18835392;1906501;19258923;19369450;19435811;19912257;20056178;20162422;20185584;20237496;2078213;21145461;21220697;2129556;21630055;21677836;21738478;21738479;21988832;2201751;22056994;2217207;22615136;22770218;22771802;23021568;23128233;23225384;23372021;2341726;23554905;23867815;23904157;24098805;2643119;2834384;7864661;8702798;9260277;9277410;9843467;9873037 2920 P19875;Q6LD33 ABBA01022994;AC093677;AF043340;AMYH02009474;BC015753;BC053653;BX334969;CH471057;CR542171;M36820;M57731;NM_002089;U03019;X53799 AAA03453;AAA63182;AAA63183;AAC03540;AAH15753;CAA37808;CAG46968;EAX05700;EAX05701;NP_002080;P19875 Hs.75765 1797456;2124528;2132555;2137128;2152461;2154488 CXCL2_1876;D4S2819;D4S3343;RH17698;RH69945;SHGC-67843 CINC-2a;GRO2;GROb;MGSA-b;MIP-2a;MIP2;MIP2A;SCYB2 C-X-C motif chemokine 2;GRO2 oncogene;MGSA beta;MIP2-alpha;OTTHUMP00000219185;gro-beta;growth-regulated protein beta;macrophage inflammatory protein 2-alpha;melanoma growth stimulatory activity beta protein-coding ENSG00000081041 HGNC:4603 00741 139110 REVIEWED 1353345 CXCL1P chemokine (C-X-C motif) ligand 1 pseudogene 4 4 4 q13.3 72169867 72170365 - 74809712 74810210 - 73943995 73944493 - 9524820 50612 ABBA01022994;AC097709;AMYH02009472;NG_001275;U88432 GRO1P;GROP;MGSAP;SCYB1P pseudo HGNC:10641 INFERRED 1602051 CXCL17 chemokine (C-X-C motif) ligand 17 INVOLVED IN angiogenesis (inferred); cell differentiation (inferred); chemotaxis (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); chloroprene (ortholog) 19 19 19 q13.2 39733484 39747927 - 42932695 42947136 - 42428543 42442984 - 6480464 12477932;12975309;15340161;16455961;16989774;17201934;19657564;20955708;21586597;22425983;22611239 284340 Q6UXB2;X6R584 ABBA01040847;AC011497;AK292985;AMYH02036150;AMYH02036151;AY358433;AY598464;BC093946;BC112095;NM_198477 AAH93946;AAI12096;AAQ88799;AAU04875;BAF85674;NP_940879;Q6UXB2 Hs.445586 1683757 RH98494 DMC;Dcip1;MGC138300;UNQ473;VCC-1;VCC1 C-X-C motif chemokine 17;VEGF co-regulated chemokine 1;VEGF coregulated chemokine 1;dendritic cell and monocyte chemokine-like protein protein-coding HGNC:19232 18264 611387 PROVISIONAL 1348297 CXCL5 chemokine (C-X-C motif) ligand 5 This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils, to promote angiogenesis and to remodel connective tissues. This protein is thought to play a role in cancer cell proliferation, migration, and invasion. [provided by RefSeq, May 2013] 4 4 4 q13.3 72221508 72224565 - 74861359 74864446 - 73995642 73998729 - 1580863;5135243;5135247;5135252;4143520;5135272;5135241;4145490;5135250;5135257;5135269;5135275;5135260;5135270;5135267;5135264;5135245;5135254;5135255;5135259;5135265;4143190;5135251;5135256;5135268;5135248;5135249;5135242;5135244;5135271;5135258;6480464;6907045;5135246 10358204;10498645;10655268;11254553;11342480;11580116;11751193;11950713;12751040;12857718;15557650;16085216;16790804;17023518;17052298;17234659;18410262;18413816;18417511;18432520;19153309;19741068;19846873;20137269;21031438;7749835;7814607;8810593;9284162;9620668;9766630 10068592;10095777;10343098;10463948;10820279;11106948;11468158;12477932;12665801;12680872;12950257;13679321;13679391;14644041;14711052;14967364;15021975;15489334;15714497;16567110;16574090;16618752;16635746;17022986;17428364;1744577;17479287;17549409;17703412;17761179;17878384;18240029;18320069;18413205;18570917;18577758;18769620;19035625;19047312;19258635;19258923;19356715;19506876;19567485;19646363;19724852;19838218;20501684;20503287;20630876;20945384;21034724;21229889;21332547;21609350;21734176;21779896;22125641;22197219;22274300;22711685;22916037;22943113;23045282;23128233;23179318;23245743;23290114;23383108;23439434;23469080;23898208;24346967;24500664;24583128;7828901;7929219;7999089;8083342;8580362;8702798;9164944;9252512;9365115;9692902 6374 P42830;Q6I9S7 ABBA01022994;AC097709;AF349466;AJ315732;AK026546;AK312128;AMYH02009472;BC008376;BT006807;BU169770;BU626570;CB529782;CH471057;CR457428;DN992282;FB342965;FB711088;L37036;NM_002994;U12709;X78686 AAA62475;AAA86426;AAH08376;AAK29641;AAP35453;AAY41005;ABM86473;ABW03807;BAG35064;CAA55355;CAC42884;CAG33709;CAR81483;CAS91499;EAX05696;NP_002985;P42830 Hs.89714 1659079;1793188;2123782;2136767;2154051;2174019;5114072 D4S873;PMC201041P1;SHGC-59754;SHGC-67260;SHGC-67680;SHGC-67727;STS-X78686 ENA-78;SCYB5 C-X-C motif chemokine 5;ENA-78(1-78);OTTHUMP00000219197;epithelial-derived neutrophil activating protein 78;epithelial-derived neutrophil-activating peptide 78;epithelial-derived neutrophil-activating protein 78;neutrophil-activating peptide ENA-78;neutrophil-activating protein 78;small inducible cytokine B5;small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78);small-inducible cytokine B5 APPROVED protein-coding ENSG00000163735 HGNC:10642 08976 600324 REVIEWED 1352024 CXCL10 chemokine (C-X-C motif) ligand 10 This antimicrobial gene encodes a chemokine of the CXC subfamily and ligand for the receptor CXCR3. Binding of this protein to CXCR3 results in pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. [provided by RefSeq, Sep 2014] 4 4 4 q21 74243028 74245407 - 76942269 76944689 - 76021116 76023536 - 1580863;2311384;2311358;2311376;1598502;2311365;2311357;2311381;2311356;2311359;2311360;2311361;2311362;2311363;2311364;2311383;1598500;2311388;2311389;2311386;2311355;4892104;5135491;5135443;5135438;5135459;5135283;5135450;5135451;5135435;5135436;5135284;5135441;5135457;5135458;5135490;5135448;5135307;5135489;5135306;5135439;5135440;1598501;5135493;5135305;5135483;5135437;5135445;5135492;5135449;5135452;5135279;5135442;6480464;6907045;5683877;2311385 11994485;12097412;12909590;14507644;14527170;14578618;14979941;14991597;15265940;15322218;15526056;15618188;15725351;15764644;15843529;15956791;16014397;16148094;16299319;16339582;16382022;16469832;16505038;16602032;16709871;17052299;17062848;17194635;17302903;17372021;17425653;17549754;17550373;17655904;17925429;18589091;18624292;19046227;19073786;19170890;19187771;19218194;19232748;19433855;19509015;19565490;19816001;20561238;21049277;21124994;21273392;21303517;9288136;9834133 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3627 P02778 AA321649;AA505379;ABBA01063355;AC112719;AMYH02009504;BC010954;BF056337;CH471057;NM_001565;X02530 AAH10954;ABM83712;ABM87032;CAA26370;EAX05772;EAX05773;NP_001556;P02778 Hs.632586 1645677;1650993;1772226;1797452;2137415;2155208 CXCL10__1179;D4S3268;G33388;G33799;SHGC4-1008;STS-X02530 C7;IFI10;INP10;IP-10;SCYB10;crg-2;gIP-10;mob-1 10 kDa interferon gamma-induced protein;C-X-C motif chemokine 10;OTTHUMP00000219215;gamma IP10;gamma-IP10;interferon-inducible cytokine IP-10;protein 10 from interferon (gamma)-induced cell line;small inducible cytokine subfamily B (Cys-X-Cys), member 10;small-inducible cytokine B10 APPROVED protein-coding ENSG00000169245 HGNC:10637 00930 147310 REVIEWED 1345336 CXCL6 chemokine (C-X-C motif) ligand 6 ENCODES a protein that exhibits chemokine activity (inferred); heparin binding (inferred); INVOLVED IN cell chemotaxis (inferred); cell-cell signaling (inferred); chemotaxis (inferred); PARTICIPATES IN rheumatoid arthritis pathway; ASSOCIATED WITH Rhinitis; Sleep Apnea, Obstructive; Pneumonia (ortholog); FOUND IN extracellular region (inferred); extracellular space (inferred); INTERACTS WITH 1-nitropyrene; 8'-apo-beta,psi-caroten-8'-al; beta-carotene 4 4 4 q13.3 72062419 72064623 + 74702273 74704477 + 73836556 73838760 + 1580863;4892029;4892030;4892031;6480464;6907045;8554872 15988615;20650015;20659080 10343098;10593335;12477932;12524079;12533683;12591113;12628493;12882792;12950257;15214047;15342556;15489334;15652347;15815621;17022986;17703412;17827342;18240029;18443119;18563170;18577758;18782286;18842116;19240061;19258923;19369450;20503287;20507572;20628624;21236563;22886775;23128233;23383108;23814098;24250750;8399143;8423327;9057843;9164944;9465307;9692902 6372 D6RF92;P80162 ABBA01022993;AC108029;AK311981;AMYH02009470;BC013744;BP204144;CH471057;NM_002993;U81234;U83303;Y08770 AAC51338;AAD00506;AAH13744;AAY40939;ABM82426;ABM85618;BAG34920;CAA70023;EAX05690;NP_002984;P80162 Hs.164021 1656671;1793190 PMC201041P2;RH70711 CKA-3;GCP-2;GCP2;SCYB6 C-X-C motif chemokine 6;OTTHUMP00000160479;OTTHUMP00000218985;Small inducible cytokine subfamily B (Cys-X-Cys), member b;chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2);chemokine alpha 3;granulocyte chemotactic protein 2;small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2);small-inducible cytokine B6 APPROVED protein-coding ENSG00000124875 HGNC:10643 00735 138965 VALIDATED 1348459 CXCL3 chemokine (C-X-C motif) ligand 3 This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. [provided by RefSeq, Sep 2014] 4 4 4 q21 72262394 72264580 - 74902306 74904490 - 74036589 74038773 - 1580863;5135245;5135236;5135231;5135234;5135240;6480464 11052817;17023518;17804032;18391855;8833037 10095777;12477932;12734364;12949249;15340161;15489334;16341674;16356540;17389786;17466952;17703412;18240029;18577758;1906501;19258923;19369450;19448742;19741597;20056178;20162422;20237496;20503287;20628624;2129556;2201751;2217207;23023221;23128233;23225384;23383108;23589610;23904157;2834384;8166297;8344798;8702798;9277410;9322516;9873037 2921 P19876;Q6LD32 ABBA01022994;AC097709;AK307064;AK311367;AMYH02009474;AW079760;BC016308;BC065743;BM828712;CH471057;HI519536;M36821;NM_002090;U03020;X53800 AAA03454;AAA63184;AAH16308;AAH65743;AAY41006;ABW03903;ACE86488;ACE87169;CAA37809;CBX54349;EAX05697;EAX05698;NP_002081;P19876 Hs.89690 1714135;1795654;1850690;2163076;2185846 CXCL3_1819;RH119675;SHGC-35359;SHGC-67271;STS-M36821 CINC-2b;GRO3;GROg;MIP-2b;MIP2B;SCYB3 C-X-C motif chemokine 3;GRO-gamma;GRO-gamma(1-73);GRO3 oncogene;MGSA gamma;MIP2-beta;OTTHUMP00000219183;growth-regulated protein gamma;macrophage inflammatory protein 2-beta;melanoma growth stimulatory activity gamma protein-coding ENSG00000163734 HGNC:4604 00742 139111 REVIEWED 737223 CXCL12 chemokine (C-X-C motif) ligand 12 This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] 10 10 10 q11.1 40869153 40884099 - 44865601 44880545 - 44370153 44385097 - 2306577;2301942;2306559;2306554;2306564;2306567;632503;2306307;2306556;2306557;2306560;2306561;2306563;2306562;2306555;2306558;2306579;2306553;2306568;2306575;2306570;2317610;2317609;2317608;6480464;6480655;6484113;6907045;7240710;8554872 11334429;11438578;11820456;12383202;12761880;14522095;14679085;15630447;15978329;16723689;17557270;17878289;17950070;18201529;18206136;18384776;18451752;18454663;18709383;18793419;19013212;19054393;19187644;19327017;21382035 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6387 P48061 ABBA01050018;AI092156;AJ227905;AK090482;AK124641;AK292628;AK311814;AL137026;AL713778;AMYH02022724;AU120056;AW014388;AY644456;AY802782;AY874118;BC031072;BC039893;BX647204;CD172464;CH471160;CR450283;CS131913;CS131917;DA266752;DQ345517;DQ345518;DQ345519;DQ345520;L36033;L36034;NG_016861;NM_000609;NM_001033886;NM_001178134;NM_001277990;NM_199168;U16752 AAA97434;AAB39332;AAB39333;AAH39893;AAT76437;AAV49999;AAW82036;ABC69270;ABC69271;ABC69272;ABC69273;BAC03463;BAF85317;BAG34757;CAD28539;CAG29279;CAJ21099;CAJ21100;EAW86618;EAW86619;EAW86620;EAW86621;NP_000600;NP_001029058;NP_001171605;NP_001264919;NP_954637;P48061 Hs.522891 1648302;1665995;1671436;1736076;2118713;2137857;2161500;2174422;2218452 CXCL12__1181;D10S1350E;D10S2188;G17474;G30000;RH44662;RH44690;SGC33589;SGC33789 IRH;PBSF;SCYB12;SDF-1a;SDF-1b;SDF1;SDF1A;SDF1B;TLSF;TLSF-a;TLSF-b;TPAR1 OTTHUMP00000019491;OTTHUMP00000019492;OTTHUMP00000216979;OTTHUMP00000216980;intercrine reduced in hepatomas;pre-B cell growth-stimulating factor;stromal cell-derived factor 1 APPROVED protein-coding ENSG00000107562 HGNC:10672 02904 600835;609423 REVIEWED 1348195 CXCL9 chemokine (C-X-C motif) ligand 9 This antimicrobial gene encodes a protein thought to be involved in T cell trafficking. The encoded protein binds to C-X-C motif chemokine 3 and is a chemoattractant for lymphocytes but not for neutrophils. [provided by RefSeq, Sep 2014] 4 4 4 q21 74223036 74229163 - 76922623 76928641 - 76001470 76007488 - 1580863;5135449;5135450;4892104;5135435;5135440;5135459;5135443;5135441;5135445;5135456;5135283;5135451;5135436;5135307;5135447;5135490;4891446;4892070;5135285;5135306;5135308;5135305;5135438;5135448;5135437;5135444;1598501;5135279;4891406;5135442;6480464;6484113;6907045;5683877;5135284 12097412;14507644;14527170;14991597;15210824;15265940;15526056;15618188;15725351;15843529;15916706;15956791;16014397;16709871;17052299;17550373;17655904;17925429;19218194;19229703;19281538;19433855;19565490;19597126;19816001;19906920;20182399;20381636;21049277;21124994;21273392;21303517 10201891;10201901;10233762;10570316;10903763;11110785;11157474;11208713;11390394;11422029;11423172;11449350;11523044;12107104;12162873;12185171;12270371;12384933;12477932;12539042;12782716;12847282;12856973;12884299;12946268;12949249;14550288;15081261;15113590;15150261;15489334;16200621;16210647;16243485;16583210;17207965;17255201;17262710;17490641;17703315;17703412;17875534;17892861;17975089;18240029;18275857;18292502;18338951;18413205;18415893;18930766;19087608;19134328;19157479;19258635;19258923;19274094;19340290;19344719;19410617;19459809;19639049;19800124;19898927;19929857;20038462;20137825;20237496;20299237;20456109;20485444;20503287;20626297;20628624;20810571;20838432;20942936;2115167;21167783;21179030;21470996;21475065;21601475;21645215;21812928;21962843;21988832;22037980;22333315;22367045;22401175;22467521;22580676;22586042;22689822;22766105;22889476;22905138;23012327;23150742;23179902;23352833;23383108;23417848;23502337;23527708;23535064;23600831;23769451;23902475;23968332;23975214;24063316;24084359;24124595;24278236;24351073;24363401;24600982;2834384;7595201;8476424;8976378;9660793;9730616 4283 Q07325 ABBA01063355;AC112719;AK311852;AMYH02009503;BC025745;BC042178;BC063122;BC095396;CH471057;DB141449;NM_002416;X72755 AAH63122;AAH95396;ADQ32101;BAG34794;CAA51284;EAX05763;EAX05764;NP_002407;Q07325 Hs.77367 1795656;1855250;1858466;1858468;2145556;2145558;2157780;2157782 CXCL9_560.2;D4S3297;D4S3315;G33390;SHGC-12003;SHGC-50181;SHGC-60006;STS-X72755 CMK;MIG;SCYB9;crg-10 C-X-C motif chemokine 9;Humig;OTTHUMP00000219216;gamma-interferon-induced monokine;monokine induced by gamma interferon;monokine induced by interferon-gamma;small-inducible cytokine B9 APPROVED protein-coding ENSG00000138755 HGNC:7098 03416 601704 REVIEWED 1349760 CXCR2P1 chemokine (C-X-C motif) receptor 2 pseudogene 1 2 2 2 q35 212691766 212693901 - 218923878 218926013 - 218059155 218061290 - 12477932;1303245;1427896;8486366 3580 ABBA01006024;AC010136;AMYH02005783;BC033255;M98335;NR_002712;X65859 Hs.647858 1768115;1778518;1792636;2135246 PMC155779P2;RH69171;SHGC-35278;STS-L19593 CXCR2P;IL8RBP APPROVED pseudo HGNC:6028 PROVISIONAL 735299 CXCR2 chemokine (C-X-C motif) receptor 2 The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009] 2 2 2 q35 212756449 212768411 + 218990013 219001976 + 218125290 218137253 + 1580863;5131210;5134954;5135252;5135034;5134955;5134989;5134975;5135248;6480464;6907045;7207860;7257704;7257705;7257672;7257675;7257688;7257685;7257690;7257684;7257694;5129125;7257677;2315930;7257703;7257700;7257683;7257679;7257681;7257673;7257674;7257682;7257692;7257706 11254553;11313419;12847259;12857718;14596426;14738862;15347560;15516486;15840022;16210641;17014919;17634442;18401338;18836137;19252927;19283893;19616545;19671179;19864593;20038794;20818377;21214373;21330942;21356370;21814172;22325052;22341067;22791342;22882432;23144964;23615182 10438939;10593335;10688807;10725748;10734056;10820279;10878382;10881932;10943863;11007922;11023990;11138777;11170396;11196695;11278485;11397869;11435493;11524231;11751889;11818437;12164325;12176324;12239185;12442335;12453441;12477932;12496258;12606476;12620646;12628493;12633567;12870115;12888558;12975484;1303245;1379593;1427896;14713106;14967163;15004234;15028716;15063762;15265017;15358660;15364949;15452121;15454487;15479720;15489334;15545821;15598788;15618253;15626158;15630732;15772681;15793866;15946947;16086366;16098254;16260092;16272353;16344560;16406804;16411061;16621978;16679868;16702372;16793206;16897191;16987681;16990258;17003486;17142783;17204468;17272812;17295203;17360650;17435771;17604950;17630697;17672867;17703412;17709521;17939034;17949231;17996233;18025257;18199703;18208820;18240029;18244953;18292390;18307412;1840701;18462836;18555777;18577758;18633131;18676870;18755694;18780829;18852457;1891716;19010874;19012493;19026125;19035451;19057948;19067586;19118103;19147552;19151925;19155217;19170196;19258923;19401689;19423540;19435808;19435811;19549892;19573080;19585580;19634663;19750480;19773279;19887480;19890050;19904283;19913121;20005738;20016196;20016852;20018298;20044480;20056178;20070156;20089160;20140262;20237496;20406964;20419088;20429924;20438785;20452482;20453000;20468071;20485444;20503287;20505188;20519647;20540789;20568250;20580690;20628086;20630874;20635912;20673868;20802378;21036625;21042230;21106938;21297633;21343381;21441140;21555225;21670971;21749879;21876773;21915051;21948388;21989491;22076427;22088968;22117410;22152684;22171941;22203670;22231733;22242662;22274915;22389383;22482416;22617157;22626766;22661400;22763041;22763101;22850671;22885102;22893608;22904195;22986777;23023221;23029099;23128233;23204236;23293110;23389772;23403077;23470693;23479735;23548249;23727325;23758411;23869868;23912333;23972657;24161763;24332572;24338377;24339979;24430363;24510965;24582495;24623414;24642259;24736615;24768637;24777453;2834384;7512557;7829970;7929358;8036519;8194768;8195702;8294449;8316840;8384312;8550564;8626516;8662698;8702798;8940121;9058825;9079638;9260277;9464567;9651375;9692902;9725262;9843397 3579 AAA15417;AAB24742;C9J1J7;C9J2F9;C9JG19;C9JW47;P25025;Q53PC4;Q6LCZ7 AB032733;AB032734;ABBA01023877;AC124768;AJ710879;AK290906;AK312664;AMYH02005784;AY714242;BC037961;CH471063;DA670033;DA674925;HI519532;L19593;M73969;M94582;M99412;NM_001168298;NM_001557;U11866;U11869;U11872;U11873;U11874;U11875;U11876;U11877;U11878;XM_005246530;XM_005246531 AAA15417;AAA36108;AAA64380;AAA64381;AAA64382;AAA64383;AAA64384;AAA64385;AAA64386;AAA83148;AAB24742;AAB59437;AAB60656;AAC14460;AAH37961;AAT97985;AAY24026;ABM84587;ABM86597;BAA92295;BAA92296;BAF83595;BAG35546;CBX54347;EAW70589;NP_001161770;NP_001548;P25025;XP_005246587;XP_005246588 Hs.846 1768115;1778518;1790233;1792068;1792634;1792636;1792638;1793968;1796114;2131919;2135246 IL8R-1;IL8RB_163;PMC135988P2;PMC155779P1;PMC155779P2;PMC155779P3;PMC310709P2;RH69171;RH78907;SHGC-35278;STS-L19593 CD182;CDw128b;CMKAR2;CXC-R2;CXCR-2;IL-8R B;IL8R2;IL8RA;IL8RB C-X-C chemokine receptor type 2;CXCR2 gene for IL8 receptor type B;GRO/MGSA receptor;IL-8 receptor type 2;OTTHUMP00000164139;OTTHUMP00000207450;OTTHUMP00000207451;OTTHUMP00000207452;OTTHUMP00000207453;OTTHUMP00000207454;OTTHUMP00000207455;chemokine (CXC) receptor 2;high affinity interleukin-8 receptor B;interleukin 8 receptor B;interleukin 8 receptor type 2;interleukin 8 receptor, beta;interleukin-8 receptor type B APPROVED protein-coding ENSG00000180871 HGNC:6027 00907 146928 REVIEWED 1353194 CXCR1 chemokine (C-X-C motif) receptor 1 The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. Knockout studies in mice suggested that this protein inhibits embryonic oligodendrocyte precursor migration in developing spinal cord. This gene, IL8RB, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. [provided by RefSeq, Jul 2008] 2 2 2 q35 212794153 212798301 - 219027568 219031716 - 218162845 218166993 - 1580863;6480464;6907045;7207862;7240710;7207863;7207860;7207859;7207864;7257676;8554872 17786197;20649681;21151974;21452410;22325052;23336303 10368283;10570306;10593335;10725748;10734056;10843722;11007922;11196695;11397869;11564821;12002274;12055238;12077146;12239185;12442335;12477932;12535747;12576754;12628493;12651900;12870115;1303245;1379593;1427896;14688334;14713106;15028716;15133028;15265017;15292066;15454487;15489334;15545821;15556942;15579377;15598788;15618253;15641067;15764156;15772681;15793866;15815621;15902300;15946947;16098254;16205979;16406804;16411061;16500343;16621978;16679868;16897191;16950632;16987681;17026468;17169533;17204468;17207897;17295203;17296422;17360650;17361014;17596666;17604950;17672867;17876799;17996233;18025257;18059279;18240029;1840701;18577758;18667484;18676680;18676870;18818748;19012493;19019335;19118103;19151925;19401689;19423540;19505916;19527514;19573080;19585580;19625176;19634663;19681642;19692168;19735481;19773279;19773451;19890050;19913121;20016196;20016852;20044480;20089160;20237496;20406964;20438785;20452482;20453000;20628086;20630874;20811626;21036625;21042230;21048114;21297633;21323370;21555225;21749879;21915051;21988832;21989491;22019593;22024025;22051099;22076427;22088968;22152684;22171941;22174157;22242662;22262769;22482416;22489883;22563025;22626766;22763101;22904195;22936990;23086146;23128233;23166320;23349885;23396733;23470693;23525041;23904157;23912333;24139401;24161763;24164922;24623414;2834384;7527448;7650389;7829970;7868904;7929358;8077663;8195702;8316840;8381837;8384312;8486366;8500355;8662698;8702798;8903513;9260277;9692902;9843397 3577 B4DQ59;P25024 AB032728;AB032729;AB032730;AB032731;AB032732;ABBA01023877;AC097483;AK298647;AK309632;AK312668;AMYH02005784;AY651785;AY916762;AY916763;AY916764;AY916765;AY916766;AY916769;AY916772;AY916773;BC028221;BC072397;CA425329;CH471063;CR541994;CR542029;L19591;L19592;M68932;NG_011814;NM_000634;U11870;U11871;X65858 AAA59159;AAA59160;AAA64378;AAA64379;AAB59436;AAH28221;AAH72397;AAT46689;AAX93212;AAY21512;AAY21513;AAY21514;AAY21515;AAY21516;AAY21519;AAY21522;AAY21523;ABM82644;ABM85821;BAA92290;BAA92291;BAA92292;BAA92293;BAA92294;BAG35550;BAG60821;CAA46688;CAG46791;CAG46826;EAW70590;NP_000625;P25024 Hs.194778 1792056;1792634;1792636;1793968;2130931;2156682 D2S2592;PMC135988P1;PMC155779P1;PMC155779P2;PMC310709P2;RH70867 C-C;C-C-CKR-1;CD128;CD181;CDw128a;CKR-1;CMKAR1;CXC-R1;CXCR-1;IL-8R A;IL8R1;IL8RA;IL8RBA C-X-C chemokine receptor type 1;IL-8 receptor type 1;OTTHUMP00000164140;high affinity interleukin-8 receptor A;interleukin 8 receptor, alpha;interleukin-8 receptor type 1;interleukin-8 receptor type A APPROVED protein-coding ENSG00000163464 HGNC:6026 00908 146929;609423 REVIEWED 1350447 CXCR3 chemokine (C-X-C motif) receptor 3 This gene encodes a G protein-coupled receptor with selectivity for three chemokines, termed CXCL9/Mig (monokine induced by interferon-g), CXCL10/IP10 (interferon-g-inducible 10 kDa protein) and CXCL11/I-TAC (interferon-inducible T cell a-chemoattractant). Binding of chemokines to this protein induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the isoforms (CXCR3-B) shows high affinity binding to chemokine, CXCL4/PF4 (PMID:12782716). [provided by RefSeq, Jun 2011] X X X q13 71188006 71190607 - 70835766 70838367 - 71615916 71618517 - 633970;1598500;1580863;1598501;1598502;2311364;2311376;2311381;2311383;5135492;5143937;4145620;5143934;5135435;5135486;5135506;5135279;5135451;5135441;5135509;5135446;5135487;5135491;5135459;5143932;4892088;4892119;5135501;4145632;4892104;5135445;5135484;5135448;5135483;5135442;5135493;6480657;6480464;8551819 12097412;14578618;14979941;14991597;15254596;15265940;15322218;15526056;15618188;15843529;15884054;16014397;16043121;16434036;16548899;16709871;16885372;17062848;17086735;17298426;17549754;17641057;18094012;18589091;18624292;18798077;19017998;19039768;19218194;19232748;19842835;20561238;21038468;21087446;21303517;8666380;9834133 10233762;10393705;10627472;10666479;10741397;10900358;10903743;10903763;10942362;11083865;11134180;11160352;11196695;11554781;11559369;11714650;11739530;11966764;11990865;12016104;12055238;12070001;12270371;12356205;12425561;12444109;12445801;12477932;12517959;12571234;12688353;12750173;12782716;12819030;12884299;12919091;12953097;12960247;12960302;14618028;14630801;14657006;14742268;15126579;15150261;15155273;15181567;15265234;15273303;15328188;15489334;15501397;15518810;15528361;15578697;15687242;15713799;15725351;15808644;15856455;15879427;15885315;16033640;16034118;16127166;16243485;16339779;16368892;16455991;16456020;16679918;16733654;16787707;16806233;16847335;16861617;16930533;16934957;17018607;17142783;17142784;17251291;17339184;17363734;17457216;17560677;17615381;17666357;17703412;17912012;17947699;18037659;18174362;18240029;18280341;18291705;18375741;18453591;18485912;18497951;18616679;18689270;18729739;18761554;18798334;18832436;18962861;19106589;19134328;19258923;19344719;19380511;19539215;19641142;19703720;19734217;19735481;19758167;19767105;19800124;20041963;20047517;20059481;20079227;20096889;20164417;20185576;20203286;20228225;20237496;20377416;20379873;20429924;20485444;20503287;20529825;20733031;20848514;20855888;20856926;20980681;21051441;21091908;21148743;21255008;21274647;21303425;21357438;21426802;21538345;21645215;21739422;21811993;21962843;22079021;22111598;22236567;22262158;22369302;22392992;22401929;22675496;22685032;22689289;22792160;22796894;22798340;22936405;23121557;23158864;23179902;23298254;23333304;23600831;23643635;23773308;23994383;24129241;24135023;24318111;24366869;24890729;2834384;9064356;9419219;9466968;9625760;9660793 2833 P49682 AB032735;AB032736;ABBA01067767;ABBA01067768;AF469635;AK313679;AL590763;AMYH02039677;AY242128;BC034403;CH471132;CQ834242;HI574346;NG_029076;NM_001142797;NM_001504;U32674;X95876;XM_005262256;XM_005262257;Z79783 AAC50505;AAH34403;AAO92295;AAP55851;ABM83386;ABM86599;BAA92297;BAA92298;BAG36429;CAA65126;CAB02143;CAH05336;CBX47662;EAX05283;NP_001136269;NP_001495;P49682;XP_005262313;XP_005262314 Hs.198252 1657191;1792070;1793178;2131399 PMC135988P3;PMC198541P1;RH47042;STS-X95876 CD182;CD183;CKR-L2;CMKAR3;CXC-R3;CXCR-3;GPR9;IP10-R;Mig-R;MigR C-X-C chemokine receptor type 3;G protein-coupled receptor 9;IP-10 receptor;IP10 receptor;Mig receptor;OTTHUMP00000032170;OTTHUMP00000070257;chemokine (C-X-C) receptor 3;interferon-inducible protein 10 receptor APPROVED protein-coding ENSG00000186810 HGNC:4540 02936 300574 REVIEWED 1346238 CXorf10 chromosome X open reading frame 10 q26 14702039 93949 AK021694 Hs.504534 FLJ11632 protein-coding HGNC:15976 1345690 CXCR5 chemokine (C-X-C motif) receptor 5 This gene encodes a multi-pass membrane protein that belongs to the CXC chemokine receptor family. It is expressed in mature B-cells and Burkitt's lymphoma. This cytokine receptor binds to B-lymphocyte chemoattractant (BLC), and is involved in B-cell migration into B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 11 11 11 q23.3 115914233 115926662 + 118754475 118766980 + 118883766 118896271 + 1580863;6480464 11688722;11714765;12070001;12171958;12324654;12447991;12477932;12578791;12620646;1425907;14618028;14763921;15713799;15780119;16225771;16318584;16344560;16888899;17015714;17018614;17652619;17786442;18528326;18577758;18780835;19074885;19228923;19375853;19536742;19610059;19913121;19955043;20412587;20628086;20809769;21399635;21471443;21642390;21750724;21785430;21833088;22607768;22707196;22840692;22913878;22951725;23128233;23189125;23250934;23739915;23807677;23812490;24001599;24035365;24138884;24337540;24390342;25015289;7639692;9463416;9486651 643 A0N0R2;A8K647;P32302;Q2YD84 ABBA01039689;AK291512;AMYH02025657;AP004609;AW575330;BC110352;CH471065;CO958128;DA815880;EF064770;EF444957;NM_001716;NM_032966;X68149;X68829 AAI10353;ABK41953;ACA05956;BAF84201;CAA48252;CAA48723;EAW67415;EAW67416;NP_001707;NP_116743;P32302 Hs.113916 1659827;1792510 D11S4342;PMC152543P3 BLR1;CD185;CXC-R5;CXCR-5;MDR-15;MDR15;MGC117347 Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5);Burkitt lymphoma receptor 1, GTP-binding protein;C-X-C chemokine receptor type 5;OTTHUMP00000232687;monocyte-derived receptor 15 APPROVED protein-coding HGNC:1060 03367 601613 REVIEWED 1352090 CXCR6 chemokine (C-X-C motif) receptor 6 ENCODES a protein that exhibits C-X-C chemokine receptor activity (inferred); coreceptor activity (inferred); G-protein coupled receptor activity (inferred); INVOLVED IN chemokine-mediated signaling pathway (inferred); chemotaxis (inferred); G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Scleroderma, Systemic; FOUND IN integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH benzene; paclitaxel; 17beta-estradiol (ortholog) 3 3 3 p21 45922592 45927464 + 45984973 45989845 + 45943481 45948353 + 1580863;5135279;6480464;8554872 21303517 10590105;10877489;10933620;10975845;11017100;11290797;11711593;12044980;12070001;12477932;12761559;12914753;14634054;15053339;15489334;15650194;15736401;15817921;15992849;16200580;16470129;16870145;17615381;17640964;17725420;18194461;18240029;18250446;18293410;18452560;18577758;18656707;18760678;19074906;19231068;19690611;20056178;20628624;20646641;20704485;20854195;20921899;21203549;21233446;21468586;21527066;21773780;22079021;22086059;22113484;22678828;22842622;23229614;23398954;23628207;24302814;24507753;9166430;9230441;9285716;9736741 10663 A0N0N3;O00574 ABBA01024719;AC099782;AF007545;AF029759;AK313754;AMYH02006668;AX244235;AY322543;BC033584;CH471055;EF064741;EU076974;JC209412;NG_031955;NM_006564;U73529;U73531;XM_005264809;Y13248 AAB61456;AAB61457;AAB64221;AAG21918;AAH33584;AAP84356;ABK41924;ABM83027;ABM86220;ABV02579;BAG36493;CAA73698;CAC88555;CDM22047;EAW64754;NP_006555;O00574;XP_005264866 Hs.34526 1792072;1795660;2120818 CXCR6_566;PMC135988P4;RH45259 CD186;CDw186;CXC-R6;CXCR-6;STRL33;TYMSTR BONZO;C-X-C chemokine receptor type 6;G protein-coupled receptor;G-protein coupled receptor STRL33;G-protein coupled receptor bonzo;OTTHUMP00000164651;OTTHUMP00000209998 protein-coding ENSG00000172215 HGNC:16647 05520 605163 VALIDATED 1345686 CXCL8 chemokine (C-X-C motif) ligand 8 The protein encoded by this gene is a member of the CXC chemokine family. This chemokine is one of the major mediators of the inflammatory response. This chemokine is secreted by several cell types. It functions as a chemoattractant, and is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other ten members of the CXC chemokine gene family form a chemokine gene cluster in a region mapped to chromosome 4q. [provided by RefSeq, Jul 2008] 4 4 4 q13-q21 71966137 71969295 + 74606223 74609433 + 73740506 73743716 + 1580863;5135034;5134999;6480464;6484113;6907045 20138139;20818377 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3576 C9J4T6;P10145 ABBA01022993;AC112518;AF385628;AJ227913;AK131067;AK311874;AMYH02009469;BC013615;BG497712;BT007067;CH471057;CR542151;D14283;HC462818;HI519526;M17017;M26383;M28130;NG_029889;NM_000584;Y00787;Z11686 AAA35611;AAA36323;AAA59158;AAA74722;AAH13615;AAK60276;AAP35730;ABM84653;ABM92181;BAA03245;BAG34815;CAA68742;CAA77745;CAG46948;CBK51144;CBX54344;EAX05687;EAX05688;EAX05689;NP_000575;P10145 Hs.624 1742201;1791502;1791844;1792200;1792742;1793544;1794536;1795146;1796116;2164598;2170302;2184461 G34435;GDB:193665;IL8_746;PMC111986P1;PMC127826P1;PMC139207P1;PMC16008P3;PMC229255P6;PMC316928P1;PMC99882P2;RH11083;SHGC-59849 GCP-1;GCP1;IL8;LECT;LUCT;MDNCF;NAF;NAP-1;NAP1 C-X-C motif chemokine 8;LYNAP;MONAP;OTTHUMP00000199824;OTTHUMP00000199825;T cell chemotactic factor;T-cell chemotactic factor;alveolar macrophage chemotactic factor I;beta endothelial cell-derived neutrophil activating peptide;beta-thromboglobulin-like protein;emoctakin;granulocyte chemotactic protein 1;interleukin 8;interleukin-8;lung giant cell carcinoma-derived chemotactic protein;lymphocyte derived neutrophil activating peptide;lymphocyte-derived neutrophil-activating factor;monocyte-derived neutrophil chemotactic factor;monocyte-derived neutrophil-activating peptide;neutrophil-activating peptide 1;small inducible cytokine subfamily B, member 8;tumor necrosis factor-induced gene 1 APPROVED protein-coding ENSG00000169429 HGNC:6025 00909 146930 REVIEWED 1347092 CXorf35 chromosome X open reading frame 35 389878 XM_374333 HGNC:26030 1352989 CXorf22 chromosome X open reading frame 22 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (+)-catechin; copper(2+) sulfate; paracetamol X X X p21.1 40065465 40135882 + 35937851 36008269 + 35919734 35990152 + 737633;6480464;8554872 12477932 14702039;15489334;15772651;16344560 170063 Q6ZTR5 ABBA01073519;ABBA01073520;ABBA01073521;ABBA01073522;ABBA01073523;ABBA01073524;ABBA01073525;ABBA01073526;ABBA01073527;AK126295;AL590065;AMYH02039164;BC027936;CD686506;CH471074;DA315191;DV080631;NG_021289;NM_152632 AAH27936;BAC86517;EAW99074;EAW99075;NP_689845;Q6ZTR5 Hs.742234 1749365 SHGC-111119 MGC34831 OTTHUMP00000023133;OTTHUMP00000233739;hypothetical protein LOC170063;uncharacterized protein CXorf22 protein-coding ENSG00000165164 HGNC:28546 06649 VALIDATED 1602943 CXorf30 chromosome X open reading frame 30 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH lead(0); lead(2+) X X X p21.1 40381649 40531032 + 36246896 36403434 + 36228779 36385319 + 6480464;8554872 11329013 645090 A6PW82;B1ARL5 ABBA01073548;ABBA01073549;ABBA01073550;ABBA01073551;ABBA01073552;ABBA01073553;ABBA01073554;ABBA01073555;ABBA01073556;ABBA01073557;ABBA01073558;ABBA01073559;ABBA01073560;ABBA01073561;ABBA01073562;ABBA01073563;ABBA01073564;ABBA01073565;ABBA01073566;ABBA01073567;ABBA01073568;AC233304;AI648401;AI822140;AL606467;AL606516;AMYH02039165;AMYH02039166;AMYH02039167;BG186336;BG197183;BX111076;CD106515;DV080142;DV080305;DV080613;DY655297;NM_001098843 A6PW82;NP_001092313 Hs.632791;Hs.742452 1700554;1748685;1787234 RH103898;SHGC-110344;SHGC-112117 RP11-87M18.1 OTTHUMP00000023137;putative uncharacterized protein CXorf30 protein-coding ENSG00000205081 HGNC:27298 PREDICTED 1343794 CXorf36 chromosome X open reading frame 36 FOUND IN extracellular region (inferred); INTERACTS WITH silicon dioxide X X X p11.3 49199429 49252310 - 45007618 45060146 - 45148373 45200901 - 1304513;6480464 11944989 11181995;12477932;12975309;14702039;15342556;16344560;18029348;19377476;21264219;21283809 79742 Q8WZ11;Q9H7Y0 ABBA01052067;ABBA01052068;ABBA01052069;ABBA01052070;ABBA01052071;ABBA01052072;ABBA01052073;AC136488;AC136489;AF289581;AK024165;AK055190;AK056730;AK094014;AK094877;AK294472;AMYH02039249;AY358764;BC035375;BC137528;BC137529;BP231945;CH471164;CR627166;DA378381;DC332862;NG_027895;NM_024689;NM_176819;XM_005272670;XM_006724559 AAI37529;AAI37530;AAL55765;AAQ89124;BAB14843;BAC04447;BAH11781;EAW59250;EAW59251;EAW59252;EAW59253;NP_078965;NP_789789;Q9H7Y0;XP_005272727;XP_006724622 Hs.98321 1337797;1849626;1849628;2114236;2114238;2146293 A005L13;A005O03;G10578;G20306;G20368;HSCZQH052 4930578C19Rik;DIA1R;DKFZp313K0825;EPQL1862;FLJ14103;FLJ55198;FLJ55198,;PRO3743;bA435K1.1 OTTHUMP00000023180;OTTHUMP00000023182;UPF0672 protein CXorf36;deleted in autism-1 related protein;deleted in autism-related protein 1;hCG1981635;hypothetical protein LOC79742 protein-coding ENSG00000147113 HGNC:25866 06524 VALIDATED 1347440 CXorf21 chromosome X open reading frame 21 INTERACTS WITH benzo[a]pyrene; formaldehyde; iron atom X X X p21.2 34698462 34717597 - 30576941 30596033 - 30558824 30577916 - 737633;6480464 12477932 14702039;15489334;16344560;17207965;18029348 80231 Q9HAI6 ABBA01072956;ABBA01072957;ABBA01072958;AC005913;AK021639;AMYH02039113;BC020611;BX281759;CH471074;DA921873;NG_016375;NM_025159 AAH20611;ADQ32111;BAB13860;EAW99052;NP_079435;Q9HAI6 Hs.665009 1338423;1714395;2146363;5037552;7186883 D8S2279;DXS985;RH120190;STS-T83845 FLJ11577 5430427O19Rik;OTTHUMP00000023104;hypothetical protein LOC80231;uncharacterized protein CXorf21 protein-coding ENSG00000120280 HGNC:25667 06518 VALIDATED 1348660 CXorf23 chromosome X open reading frame 23 ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH aflatoxin B1; coumestrol; ethyl methanesulfonate X X X p22.12 24055008 24111271 - 19930978 19988427 - 19912860 19990926 - 6480464;8554872 12477932;14702039;20360068 256643 A2AJT9;F2Z385;H7BXX2 ABBA01071819;ABBA01071820;ABBA01071821;ABBA01071822;AK094661;AK127709;AL732366;AL772197;AL833278;AMYH02038980;BC093092;BC126172;BC143906;CH471074;NG_021326;NM_198279;XM_005274473;XM_005274474;XM_005274475;XM_005274476;XM_006724477;XM_006724478;XM_006724479;XM_006724480 A2AJT9;AAI26173;AAI43907;BAC04399;BAC87094;EAW98968;EAW98969;EAW98970;NP_938020;XP_005274530;XP_005274531;XP_005274532;XP_005274533;XP_006724540;XP_006724541;XP_006724542;XP_006724543 Hs.28896 1701956;1733428;2114791;5020740;5022641;5024413;5037552 D11S2843;D8S2279;DXS1459;DXS6761;L17809;L17877;STS-R68627 OTTHUMP00000023019;OTTHUMP00000195117;hypothetical protein LOC256643;uncharacterized protein CXorf23 protein-coding ENSG00000173681 HGNC:27413 06620 VALIDATED 2293161 CXorf51A chromosome X open reading frame 51A X X q27.3 145895622 145896249 - 146814104 146814731 - 100129239 AA417208;ABBA01054262;AI954759;AL109836;AMYH02040725;AMYH02040726;AMYH02040727;AMYH02040728;NM_001144064 NP_001137536 Hs.592233 1702992;1787198 DXS8306;SHGC-100327 CXorf51 hypothetical protein LOC100129239;uncharacterized protein LOC100129239 APPROVED protein-coding HGNC:30533 VALIDATED 1344025 CXorf40A chromosome X open reading frame 40A INTERACTS WITH benzene; diazinon; elemental selenium X X X q28 148971238 148980804 + 148622204 148632086 + 149540793 149550541 + 6480464 10848801;12477932;14702039;15489334;15541360;15772651;16215939;16383041;16712791;17557240;21223654;8717057;9147653 91966 D6RA30;D6RH26;Q8TE69 ABBA01049646;ABBA01049647;ABBA01049648;AC233288;AC244197;AF011889;AI088770;AJ712320;AK055235;AK291899;AK294153;AK300334;AW517432;AW952651;AY074889;BC065539;BC104930;BC104932;BC143660;BC143661;BC143662;BE047282;BE265359;BF115859;BG831626;BU664697;CB156531;CH471171;CR984770;DC426016;HY183637;L43576;NM_001171907;NM_001171908;NM_001171909;NM_178124;U66049;U66050;XM_005262348;XM_005262349;XM_005262350;XM_005278212 AAH65539;AAI04931;AAI04933;AAI43661;AAI43662;AAI43663;AAL71889;BAF84588;BAH11684;BAH13262;EAW61276;EAW61277;EAW61279;NP_001165378;NP_001165379;NP_001165380;NP_835225;Q8TE69;XP_005262405;XP_005262406;XP_005262407;XP_005278269 Hs.534641;Hs.719441;Hs.737793 1657386;1670533;1697642;1699896;2114359;2132703;2132705;2144732 A006J30;G20875;NIB220;RH102336;RH103556;RH16561;WI-11260;WI-15826 CXorf40;EOLA1;FLJ52212 OTTHUMP00000217641;OTTHUMP00000217644;OTTHUMP00000217645;OTTHUMP00000217646;OTTHUMP00000217647;OTTHUMP00000217648;OTTHUMP00000217649;OTTHUMP00000217650;endothelial-overexpressed lipopolysaccharide-associated factor 1 protein-coding ENSG00000197620 HGNC:28089 06625 VALIDATED 1603232 CXorf47 chromosome X open reading frame 47 q21.31 751581 BE732529;BE901994 protein-coding HGNC:31846 2303429 CXorf49 chromosome X open reading frame 49 X X X q13.1 71286613 71290524 - 70934224 70938135 - 71714374 71718285 - 100130361 ABBA01046155;BX276092;NM_001145140 A8MYA2;NP_001138612 Hs.632817 2134811 DXS7122 CXorf49B;RP11-402P6.10;RP11-402P6.8 hypothetical protein LOC100130361;putative uncharacterized protein CXorf49;uncharacterized protein CXorf49 protein-coding ENSG00000215115 HGNC:30891 VALIDATED 2303482 CXorf49B chromosome X open reading frame 49B X X X q13.1 71286613 71290524 - 70983140 70987051 + 71763290 71767201 + 100132994 A8MYA2 BX276092;NM_001145139 NP_001138611 Hs.719592 2134811 DXS7122 hypothetical protein LOC100132994;uncharacterized protein LOC100132994 protein-coding ENSG00000215113 HGNC:34229 VALIDATED 1352581 CXorf38 chromosome X open reading frame 38 INTERACTS WITH copper(2+) sulfate; valproic acid; 6-propyl-2-thiouracil (ortholog) X X X p11.4 44626483 44646806 - 40486173 40506929 - 40626921 40647677 - 6480464 12477932;14702039;15489334;16344560;21890473;24250222;24816145;8889548 159013 Q8TB03 ABBA01046794;ABBA01046795;ABBA01046796;AC092473;AC093029;AK021629;AK095710;AK123989;AK304539;AK315384;AL832829;AMYH02039193;BC025334;BM969708;CH471141;CV572553;DB207233;NG_016376;NM_144970;XM_005272589;XM_006724526;XM_006724527;XM_006724528 AAH25334;ABM83078;ABM86274;BAC04615;BAG37777;BAG53990;BAG65338;CAI46149;EAW59421;EAW59422;EAW59423;NP_659407;Q8TB03;XP_005272646;XP_006724589;XP_006724590;XP_006724591 Hs.495961 1658963;1697782;1718635;1787336;2140079;2178297;2217196;5015961;5020881;5022450;5022578 AF020138;CRSP2_3501;D10S275;D15S1477;D1S1423;L17709;RH102415;RH123003;RH169;SHGC-154528;SHGC-31934 MGC39350 OTTHUMP00000025775;OTTHUMP00000025776;OTTHUMP00000025777;hypothetical protein LOC159013;uncharacterized protein CXorf38 protein-coding HGNC:28589 06651 VALIDATED 732176 CXCR4 chemokine (C-X-C motif) receptor 4 This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 2 q21 130582637 130586442 - 136871919 136875725 - 136114349 136118155 - 734860;6480654;6480657;6480464;6480655;6484113;6907045;7240710;8554872;8699517 12692554;21087446;21382035;21890643 10029247;10074122;10089882;10228019;10229873;10233851;10329539;10339592;10357469;10358157;10364484;10370370;10371171;10393923;10393974;10415069;10430052;10438703;10438870;10446313;10449282;10452968;10480633;10482576;10487781;10505675;10506573;10521508;10544150;10555208;10559349;10570282;10582593;10583963;10585143;10590105;10590121;10600606;10602722;10623764;10644702;10651866;10669334;10704341;10738970;10754293;10756055;10758170;10772939;10801487;10802710;10816381;10825158;10860877;10864687;10875613;10877489;10903911;10903920;10941932;10942389;11005830;11024154;11027346;11069996;11086073;11115360;11118068;11119612;11141237;11153675;11157475;11162626;11162839;11175286;11264367;11265761;11278278;11278567;11313374;11333905;11342415;11356952;11356967;11390582;11390601;11397808;11408611;11413305;11414813;11426226;11462036;11464139;11468147;11489906;11517394;11529558;11533159;11551942;11559423;11591141;11591370;11595336;11602639;11602715;11641392;11668182;11679153;11689632;11693435;11698270;11709091;11711593;11711617;11751889;11752220;11799176;11861874;11867624;11876757;1187744;11877445;11878912;11880384;11912162;11920324;11929756;11931835;11937572;11953881;11983855;11994484;11994538;12004084;12034737;12091904;12093918;12163560;12171912;12193696;12208881;12218052;12239139;12239174;12351385;12354773;12355376;12356205;12368305;12368322;12370187;12388552;12393569;12393663;12421915;12429730;12433920;12477874;12477932;12485835;12488503;12490404;12499259;12502809;12519755;12519884;12531874;12551992;12555203;12555204;12586555;12605695;12609846;12634405;12651900;12690099;12705474;12713058;12726730;12730102;12761880;12766157;12775414;12783211;12791666;12832058;12834106;12843275;12853157;12857973;12871111;12873764;12873765;12882655;12882661;12894851;12927045;12960231;12963807;13679920;14505910;14555820;14567988;14576059;14592831;14595012;14597738;14602072;14630801;14640682;14672331;14684377;14688392;14694113;14715575;14764445;14973260;14982745;14988150;14990703;14990729;14995074;15019705;15026622;15033669;15033938;15047829;15048928;15054042;15113900;15117454;15123627;15128813;15161081;15169555;15174142;15180966;15183061;15184910;15201990;15225616;15235108;15251986;15258189;15279544;15308751;15327899;15328152;15328206;15351504;15358596;15363550;15377464;15452229;15454484;15467730;15479838;15486895;15489334;15492752;15509740;15536192;15540205;15542430;15548713;15548717;15549771;15585097;15585836;15588345;15598422;15608062;15615703;15618472;15632118;15650174;15660419;15662133;15670831;15681827;15687242;15701832;15705741;15710459;15719026;15737629;15748209;15753377;15781337;15784966;15787642;15794931;15802268;15805285;15806155;15814634;15819887;15831676;15843590;15844659;15857508;15867478;15880586;15890935;15972662;15992849;15995960;15998835;16005638;16044003;16047221;16084492;16114056;16172123;16179731;16188969;16204649;16227248;16230077;16236267;16284526;16306611;16322285;16327980;16365278;16368946;16375941;16378977;16467205;16489019;16494043;16494621;16524887;16528367;16585856;16618732;16621978;16631222;16638848;16675573;16679918;16697675;16702010;16740704;16756721;16756955;16784459;16802356;16823836;16836911;16841089;16863915;16877302;16886061;16888620;16919488;16928758;16929169;16929176;16942785;16943240;16946301;16948134;16948905;16966601;16969502;16978607;16987062;16990599;17010165;17011204;17023512;17032700;17038674;17056591;17070589;17075975;17077324;17082613;17119115;17121788;17130833;17136117;17176471;17188679;17198877;17202224;17251291;17253948;17262717;17327270;17328229;17328838;17329448;17331556;17346946;17350297;17355795;17379424;17411375;17435771;17456315;17457084;17459055;17461449;17476338;17488655;17504381;17507467;17507486;17510563;17521613;17545018;17559806;17562613;17574038;17582634;17594938;17596666;17606439;17620369;17634424;17640743;17641542;17650669;17676665;17687643;17706641;17715128;17715399;17763975;17765649;17768666;17846797;17875700;17881971;17888880;17889832;17893878;17894415;17895991;17916907;17925864;17947233;17947541;17959679;17964871;17977968;17991743;18036244;18037996;18040858;18081034;18083706;18087217;18089812;18097955;18155192;18175225;18182005;18187620;18190699;18200497;18201276;18206727;18210030;18219852;18234887;18235009;18239145;18240029;18242797;18267010;18274673;18281050;18286257;18288973;18292939;18334485;18337451;18339860;18339870;18353956;18357387;18365549;18373506;18416455;18431597;18438604;18443596;18448868;18461161;18468560;18480460;18487224;18500445;18502034;18511598;18519809;18524826;18556411;18562079;18568019;18570923;18577758;18593989;18599607;18624931;18632580;18634924;18636124;18653785;18692524;18696160;18698020;18701133;18707241;18753930;18760838;18760839;18765807;18769446;18775311;18781098;18784079;18788547;18798091;18799424;18803056;18807177;18808680;18812968;18815295;18820725;18829537;18834145;18836306;18851783;18923649;18925934;18948617;18949410;18954561;18957686;18958626;18976975;18977142;18991615;19002187;19008040;19017998;19019622;19020538;19020745;19025611;190354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7852 P61073;Q5MIL4 AB065584;ABBA01028153;AC068492;AF005058;AF025375;AF052572;AF147204;AF348491;AJ224869;AK129916;AK296674;AK312244;AMYH02004861;AY242129;AY728138;AY826773;BC020968;BT006660;CH471058;D10924;HB976927;HC295432;L01639;L06797;M99293;NG_011587;NM_001008540;NM_003467;X71635;Y14739 AAA03209;AAA16594;AAA16617;AAB81970;AAB93982;AAC34581;AAF00130;AAH20968;AAK29630;AAO92296;AAP35306;AAU05775;AAV97584;AAY24044;ACE86647;ACE87329;ADZ15866;BAA01722;BAC05813;BAG35177;BAG59271;CAA12166;CAA50641;CAA75034;CBG22675;CBJ06540;EAX11616;NP_001008540;NP_003458;P61073 Hs.593413 1670541;1770109;1791402;1791412;1791424;1791444;1791510;1792372;1795658;2113896;2132209 CXCR4;CXCR4_564;PMC109434P1;PMC109444P3;PMC109895P1;PMC110622P1;PMC112647P1;PMC149544P1;RH17365;RH78321;SHGC-31461 CD184;CXC-R4;CXCR-4;D2S201E;FB22;HM89;HSY3RR;LAP-3;LAP3;LCR1;LESTR;NPY3R;NPYR;NPYRL;NPYY3R;WHIM C-X-C chemokine receptor type 4;CD184 antigen;LPS-associated protein 3;OTTHUMP00000204154;OTTHUMP00000204155;SDF-1 receptor;chemokine receptor (lcr1);fusin;leukocyte-derived seven transmembrane domain receptor;leukocyte-derived seven-transmembrane-domain receptor;lipopolysaccharide-associated protein 3;neuropeptide Y receptor Y3;seven transmembrane helix receptor;seven-transmembrane-segment receptor, spleen;stromal cell-derived factor 1 receptor APPROVED protein-coding ENSG00000121966 HGNC:2561 01217 162643;193670 REVIEWED 1606098 CXorf66 chromosome X open reading frame 66 The protein encoded by this gene is predicted to be a type I membrane protein, however, its exact function is not known. [provided by RefSeq, Sep 2009] X X X q27.1 139405526 139415319 - 139037884 139047677 - 139955725 139965518 - 12477932;24709545 347487 Q5JRM2 AA758774;ABBA01066093;AL590077;AMYH02040617;BC137148;BC137149;NG_021221;NM_001013403 AAI37149;AAI37150;NP_001013421;Q5JRM2 Hs.121384 1680381 RH93692 SGPX OTTHUMP00000024165;RP11-35F15.2;hypothetical protein LOC347487;secreted glycoprotein, X-linked;uncharacterized protein CXorf66 APPROVED protein-coding ENSG00000203933 HGNC:33743 18139 VALIDATED 1605981 CXorf57 chromosome X open reading frame 57 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH calcitriol; copper atom; copper(0) X X X q22.3 106326505 106394019 + 105855160 105922673 + 106611930 106679443 + 6480464 12477932;14702039;15489334;15772651;16344560;21139048;21890473;21906983;22053931;22118674;22797925;22990118;24550385;25036637 55086 B1AQ74;Q6NSI4 ABBA01035799;ABBA01035800;ABBA01035801;ABBA01035802;ABBA01035803;ABBA01035804;ABBA01035805;AK001040;AK024253;AK291730;AL590808;AL606833;AMYH02040209;BC011483;BC033709;BC047503;BC054032;BC070110;CH471120;DB065928;NG_021317;NM_001184782;NM_018015 AAH11483;AAH33709;AAH54032;AAH70110;BAB14859;BAF84419;EAX02738;EAX02739;EAX02740;EAX02741;NP_001171711;NP_060485;Q6NSI4 Hs.274267 2185239;5022200 L18426;SHGC-53457 FLJ10178;FLJ14191;RP11-647M7.1 OTTHUMP00000023784;OTTHUMP00000023785;hypothetical protein LOC55086;uncharacterized protein CXorf57 protein-coding ENSG00000147231 HGNC:25486 06513 VALIDATED 1604879 CXorf40B chromosome X open reading frame 40B INTERACTS WITH (+)-catechin; cadmium atom; methyl methanesulfonate X X X q28 149351614 149351919 - 149100415 149107068 - 149929527 149938850 - 6480464 12477932;15489334;15772651;16341674;8717057;9147653 541578 Q5HY62;Q96DE9;S4R3G8;S4R3T8 ABBA01037068;AC244099;BC009523;BM847839;BX927209;L43575;L43578;NM_001013845;U66042;XM_005274698;XM_005274699;XM_005274700;XM_005274701;XM_005274702;XM_006724825;XM_006724826;XM_006724827 AAH09523;NP_001013867;Q96DE9;XP_005274755;XP_005274756;XP_005274757;XP_005274758;XP_005274759;XP_006724888;XP_006724889;XP_006724890 Hs.545950 1657386;1670533;1699896;2114359;2132703;2132705;2144732 A006J30;G20875;NIB220;RH103556;RH16561;WI-11260;WI-15826 OTTHUMP00000032255;OTTHUMP00000032257;OTTHUMP00000032258 protein-coding ENSG00000197021 HGNC:17402 18676 VALIDATED 1606442 CXorf65 chromosome X open reading frame 65 INTERACTS WITH methyl methanesulfonate; silicon dioxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) X X X q13.1 70677642 70680541 - 70323739 70326784 - 71103889 71106934 - 6480464 12477932;15772651;8889549 158830 A6NEN9;C9J8K0 AA889552;ABBA01067665;ABBA01067666;AL590764;AMYH02039671;BC144434;CH471132;DB457782;DB523273;NG_021141;NM_001025265;NR_033212;W95038;XM_005262244 A6NEN9;EAX05320;NP_001020436;XP_005262301 Hs.443936 1648433;1701852;2162605 IL2RG;RH17366;SGC35235 OTTHUMP00000023484;OTTHUMP00000023485;hypothetical protein LOC158830;uncharacterized protein CXorf65;uncharacterized protein LOC158830 protein-coding HGNC:33713 18741 VALIDATED 1603201 CXorf56 chromosome X open reading frame 56 While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q23 119126840 119154108 - 118672112 118699397 - 119538149 119565434 - 6480464 12477932;14702039;16344560;17207965;17353931;19377476;21139048;21832049;21890473;22365833;22412018;22939629;23000965 63932 Q9H5V9 ABBA01036659;ABBA01036660;ABBA01036661;ABBA01036662;ABBA01036663;AC004000;AC004913;AC005190;AK096297;AK298877;AMYH02040333;AMYH02040334;BC023506;BQ223940;CH471161;DA590933;DA921725;DB033119;NG_016378;NM_001170569;NM_001170570;NM_022101 AAB96348;ADQ32208;BAG53251;BAG60994;EAW89864;EAW89865;EAW89866;EAW89867;NP_001164040;NP_001164041;NP_071384;Q9H5V9 Hs.248572 2168458;2191423;5015861;5037552;7185938 D10S16;D8S2279;MARC_21759-21760:1023907404:5;RH65346 FLJ22965 OTTHUMP00000023905;OTTHUMP00000215632;OTTHUMP00000215639;UPF0428 protein CXorf56;hypothetical protein LOC63932 APPROVED protein-coding ENSG00000018610 HGNC:26239 06541 VALIDATED 5508282 CXorf51B chromosome X open reading frame 51B X X q27.3 145891302 145891929 + 146809784 146810411 + 100133053 AL109836;AMYH02040726;NM_001244892 NP_001231821 Hs.98197 1702992;1787198 DXS8306;SHGC-100327 hypothetical protein LOC100133053;uncharacterized protein LOC100133053 protein-coding HGNC:42787 VALIDATED 1605257 CXorf58 chromosome X open reading frame 58 X X X p22.11 28043612 28078231 + 23926123 23957624 + 23908006 23939507 + 12477932;14702039;15489334;15772651 254158 B7ZLS7;H7C2Q7;Q96LI9 ABBA01072258;ABBA01072259;ABBA01072260;ABBA01072261;ABBA01072262;ABBA01072263;ABBA01072264;ABBA01072265;AC079376;AK058173;AMYH02039035;BC117344;BC117346;BC144007;CH471074;NG_016380;NM_001169574;NM_152761 AAI17345;AAI17347;AAI44008;ADR83134;BAB71702;EAW99005;EAW99006;NP_001163045;NP_689974;Q96LI9 Hs.351265 FLJ25444 OTTHUMP00000023070;putative uncharacterized protein CXorf58 protein-coding ENSG00000165182 HGNC:26356 06544 VALIDATED 1354389 CXXC4 CXXC finger protein 4 ENCODES a protein that exhibits PDZ domain binding; INVOLVED IN negative regulation of Wnt signaling pathway; zygotic specification of dorsal/ventral axis (ortholog); PARTICIPATES IN Wnt signaling pathway; FOUND IN cytoplasm; cytoplasmic vesicle; INTERACTS WITH dimethyl sulfoxide; silicon dioxide; valproic acid 4 4 4 q22-q24 102691446 102710586 - 105389463 105416058 - 104468306 104494901 - 68802;1580863;6480464;6907045 11113207 12477932;14702039;18931698;19460752;20332099;20473970;21832049;21890473;23563267;23949225 80319 J9JIF5;Q9H2H0 ABBA01063724;ABBA01063725;ABBA01063726;AC093628;AF272159;AK093871;AK125395;AK127778;AMYH02009833;AMYH02009834;BC119751;BC119752;CH471057;NM_025212 AAG42072;AAI19752;AAI19753;AAY40933;EAX06175;NP_079488;Q9H2H0 Hs.12248 1698324;2118006;2171852 D4S2678;RH102703;RH35803 IDAX;MGC149872 CXXC finger 4;CXXC-type zinc finger protein 4;Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex);OTTHUMP00000161763;inhibition of the Dvl and axin complex protein APPROVED protein-coding ENSG00000168772 HGNC:24593 16773 611645 VALIDATED 1322199 CYB561 cytochrome b561 ENCODES a protein that exhibits ferric-chelate reductase activity (ortholog); INVOLVED IN electron transport chain (inferred); transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; cyclosporin A 17 17 17 q23.3 55897897 55911954 - 61509665 61523724 - 63432304 63446363 - 1580863;6480464 12477932;12768339;12837283;14499595;14702039;15489334;18029348;18180394;20680310;21906983;21963094;21987572;23249217;24140660;7096323;7559396;7959749;7980462 1534 B3KTA1;B7Z775;F5H757;J3KSL5;J3QKN3;J3QLS0;J3QR25;J3QRF9;J3QRH5;J3QS09;J3QS47;P49447 ABBA01035332;AC005828;AK095244;AK294403;AK294630;AK301541;AK303177;AK316606;AMYH02033774;AMYH02033775;BC000021;BC002976;BC091485;BF206825;BM552101;BT007096;CH471109;NM_001017916;NM_001017917;NM_001915;XM_005257090;XM_005257091;XM_005257092;XM_006721727 AAH00021;AAH02976;AAH91485;AAP35760;BAG38193;BAG53013;BAH11756;BAH11829;BAH13511;BAH13913;EAW94322;EAW94323;EAW94324;EAW94325;EAW94326;NP_001017916;NP_001017917;NP_001906;P49447;XP_005257147;XP_005257148;XP_005257149;XP_006721790 Hs.355264 1672571;1687353;2117150;2120160;2184507;5014051;5037552;5123190 D8S2278;D8S2279;G30452;RH70593;RH79080;RH79732;STS-W04622;WI-18928 CYB561A1;FRRS2 cytochrome b-561;cytochrome b561 family, member A1;ferric-chelate reductase 2 APPROVED protein-coding ENSG00000008283 HGNC:2571 02485 600019 VALIDATED 1348142 CXXC1P1 CXXC finger protein 1 pseudogene 1 X X X p11.23 51761853 51791293 + 47566590 47596027 + 47707191 47736628 + 14702039 392459 ABBA01052399;ABBA01052400;ABBA01052401;ABBA01052402;ABBA01052403;AK094108;AL009172;AMYH02039290;NG_028296;NR_033924 Hs.562045 1702648;2121754 AL022451;DXS1333 CXorf25;FLJ36789;NCRNA00236 APPROVED pseudo ENSG00000187893 HGNC:27864 VALIDATED 1321956 CYB561D1 cytochrome b561 family, member D1 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; 5-aza-2'-deoxycytidine; atrazine 1 1 1 p13.3 108306008 108312412 + 110036658 110043063 + 109494036 109500441 + 1580863;6480464 12477932;14702039;15489334;16344560;16710414;20125088;20383146;23249217;23251661 284613 B4DR38;B4E0W0;E9PIJ2;E9PIK3;E9PM70;E9PQU0;Q6ZQS1;Q8N8Q1 ABBA01068378;AI375149;AK092717;AK096354;AK126707;AK128798;AK294992;AK299086;AK303546;AL355145;AMYH02001711;BC093683;BC111999;BC143308;BX647509;CH471122;DA054191;DC376706;NM_001134400;NM_001134402;NM_001134403;NM_001134404;NM_182580;XM_005270775;XM_005270776;XM_005270777 AAH93683;AAI12000;BAC04767;BAC86652;BAC87612;BAG58058;BAG61150;BAG64572;EAW56388;NP_001127872;NP_001127874;NP_001127875;NP_001127876;NP_872386;Q8N8Q1;XP_005270832;XP_005270833;XP_005270834 Hs.514682 1852814;2217228;5022200;5022578;5022649;5022651;5037552 CYB561D1_3735;D11S2875;D11S2921;D1S1423;D8S2279;L18426;SHGC-75197 FLJ39035;FLJ44753;MGC138204;RP5-831G13.3 OTTHUMP00000012726;OTTHUMP00000012727;OTTHUMP00000012728;OTTHUMP00000233120;OTTHUMP00000233121;OTTHUMP00000233122;OTTHUMP00000233123;OTTHUMP00000233124;OTTHUMP00000233125;cytochrome b-561 domain containing 1;cytochrome b561 domain-containing protein 1 APPROVED protein-coding ENSG00000174151 HGNC:26804 09902 VALIDATED 1603340 CXorf67 chromosome X open reading frame 67 INTERACTS WITH arsenite(3-) X X X p11.22 55193599 55195516 + 51149573 51151690 + 51406721 51408838 + 6480464 12477932;18264098;20564319;21139048;23959973;24870542 340602 Q86X51 ABBA01060005;AL158055;AMYH02039369;BC046248;CH471180;NM_203407;XR_109761;XR_113306;XR_172403 AAH46248;EAW89908;NP_981952;Q86X51 Hs.97053 1685223 RH98673 MGC47837 uncharacterized protein CXorf67 protein-coding ENSG00000187690 HGNC:33738 14176 VALIDATED 1345048 CXXC5 CXXC finger protein 5 ENCODES a protein that exhibits signal transducer activity; INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; signal transduction; FOUND IN intracellular membrane-bounded organelle; nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2-methylcholine 5 5 5 q31.2 135103300 135138126 + 139028301 139063467 + 139648716 139683882 + 737633;1580863;6480464 12477932 11042152;12761501;14702039;15231748;19001364;19182210;19557330;19865112;20220130;21325450;21988832;23190153;23988457;8619474;9110174 51523 D6R966;D6R9V1;D6RBE0;D6RCN9;D6RDY2;D6RHC6;D6RHG9;D6RIR8;D6RJC1;E7EV55;E7EVI8;Q7LFL8 AB097005;AB097032;ABBA01026447;AC113361;AF151029;AK001782;AK024338;AK314420;AMYH02012324;AX883920;AY007103;BC002490;BC006428;BC017439;BC024040;BC041013;BC050046;CH471062;GQ379202;NM_016463;XM_005268461;XM_005268462;XM_006714786 AAF36115;AAG01986;AAH02490;AAH06428;AAH17439;AAH24040;AAH41013;ABM83515;ABM86733;ACU80469;BAA91907;BAC77358;BAC77385;BAG51292;CAE92164;EAW62090;EAW62091;EAW62092;EAW62093;NP_057547;Q7LFL8;XP_005268518;XP_005268519;XP_006714849 Hs.744933 1772655;1850171 RH12598;RH68028 CF5;HSPC195;RINF;WID CXXC finger 5 protein;CXXC-type zinc finger protein 5;OTTHUMP00000223618;OTTHUMP00000223619;WT1-induced Inhibitor of Dishevelled;putative MAPK-activating protein PM08;putative NF-kappa-B-activating protein 102;retinoid-inducible nuclear factor APPROVED protein-coding ENSG00000171604 HGNC:26943 13105 612752 PROVISIONAL 1321844 CXXC1 CXXC finger protein 1 Proteins that contain a CXXC motif within their DNA-binding domain, such as CXXC1, recognize CpG sequences and regulate gene expression (Carlone and Skalnik, 2001 [PubMed 11604496]).[supplied by OMIM, Mar 2008] 18 18 18 q12 44665266 44671245 - 47808713 47814692 - 50282343 50288322 - 1580863;6480464;9479164;9479053 22663077;23697932 10688657;10799292;11230166;11256614;11572867;11604496;12200428;12477932;15489334;15761153;16253997;16713569;17328666;17355966;17998332;18082152;18680430;18838538;19433449;19454010;19951360;20211142;20305087;20516061;21252943;21407193;22321011;22623531;22939624;22939629;23851690;24250222;24457600;24703950;24816145 30827 K7EJR0;K7EKZ6;K7EQ21;K7EQZ1;Q9P0U4 AA236925;AB031069;AB209883;ABBA01018670;AC090246;AF149758;AK294645;AK314886;AL136862;AMYH02034703;BC002504;BC009188;BC014940;BC015733;BC029922;BX647189;CH471096;NM_001101654;NM_014593;XM_006722446 AAF37799;AAH14940;AAH15733;AAH29922;ABM84724;ABM92247;BAA96307;BAD93120;BAG37400;BAG57822;CAB66796;EAW62968;EAW62969;EAW62970;NP_001095124;NP_055408;Q9P0U4;XP_006722509 Hs.180933 1644849;1676302;1797220;2107981;5491687 CGBP;CXXC1_8030;D18S1024;MARC_7961-7962:996688184:1;RH91758 2410002I16Rik;5830420C16Rik;CFP1;CGBP;HsT2645;PCCX1;PHF18;SPP1;ZCGPC1;hCGBP CXXC finger 1 (PHD domain);CXXC-type zinc finger protein 1;CpG binding protein;DNA-binding protein with PHD finger and CXXC domain;OTTHUMP00000163508;PHD finger and CXXC domain-containing protein 1;cpG-binding protein;zinc finger, CpG binding-type containing 1 APPROVED protein-coding ENSG00000154832 HGNC:24343 10852 609150 VALIDATED 1352843 CYB5AP3 cytochrome b5 type A (microsomal) pseudogene 3 14 14 14 q32.12 73658475 73659264 + 93604300 93605122 + 93137955 93138777 + 2775258;8262522 1531 ABBA01030438;AL110118;AMYH02029769;M25765;NG_002437 CYB5P3;Psgb-5-1 APPROVED pseudo HGNC:2574 INFERRED 1344592 CYB5AP4 cytochrome b5 type A (microsomal) pseudogene 4 20 20 20 p11.2 22939489 22940037 - 22866128 22866676 - 22885490 22886038 - 2775258;8262522 1532 ABBA01016172;AL353132;AMYH02036830;M24781;NG_001021 1681022 RH69101 CYB5P4;Psgb-5-2;bA189G24.1 APPROVED pseudo HGNC:2575 INFERRED 1347150 CYB5AP5 cytochrome b5 type A (microsomal) pseudogene 5 14 14 q12 26677168 26677934 + 26207962 26208728 + 24124411 100289051;1533 ABBA01061360;AL049831;AMYH02028890;NG_029049 CYB5P5 APPROVED pseudo HGNC:2576 INFERRED 736806 CYB5A cytochrome b5 type A (microsomal) The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 18 18 18 q23 68787880 68826566 - 71920527 71959251 - 74253292 74292016 - 1599659;1599663;1580863;6480464;7240710;8699517;8554872 2107882;9848217 10660572;11329013;11867265;12477932;1396600;14733950;14739275;14985252;15489334;15680923;15687493;15831526;16679316;16712791;1712589;17320757;17446262;17622936;17691855;18299324;1840560;199233;19946888;19997042;20080843;20511233;21139048;21185375;2123873;21800051;21890473;21988832;22053931;221468;22170710;23000965;23620596;24250222;24301457;24319746;2752049;3178851;3951505;4030743;4373719;4770377;4993957;5062820;6102994;7649306;7668255;7733981;8262522;9398194;9601054;9618440;9760250;9813010 1528 J3KNC7;P00167 AB209617;ABBA01056324;AC090398;AK026310;AMYH02034992;BC015182;BG196223;CA771478;CB112646;CH471117;CR456990;L39945;M22865;M22976;M60174;NG_023211;NM_001190807;NM_001914;NM_148923;S76422 AAA35729;AAA52133;AAA52165;AAA63169;AAH15182;ABM82209;ABM85269;BAD92854;CAG33271;EAW66544;EAW66545;NP_001177736;NP_001905;NP_683725;P00167 Hs.465413 1340555;1675776;1681022;1687017;1700214;1731755;2107985;2153333;2180430;5022450;5024035;5024761;5037552 CYB5_7777;D10S275;D13S116;D18S486;D18S527;D8S2279;RH103723;RH36905;RH69101;RH69305;RH80972;SHGC-2297;SHGC-58056 CYB5;MCB5 OTTHUMP00000163744;OTTHUMP00000163745;cytochrome b5;type 1 cyt-b5 APPROVED protein-coding ENSG00000166347 HGNC:2570 08941 250790;613218 REVIEWED 1350964 CYB561A3 cytochrome b561 family, member A3 ENCODES a protein that exhibits metal ion binding (inferred); oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN lysosomal membrane; late endosome membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; cyclosporin A 11 11 11 q12.2 58451601 58465136 - 61116220 61129755 - 61348748 61362299 - 6480464;8554872 12477932;14702039;15342556;16303743;16344560;17897319;23249217;8125298;8889548;8889549 220002 F5GWH8;F5GX87;F5H0P5;F5H121;F5H1Q2;F5H240;F5H466;F5H5L0;F5H5Y9;F5H684;F5H832;Q8NBI2 AA085565;ABBA01003198;ABBA01003199;AI813810;AK024953;AK025870;AK056751;AK075559;AK097043;AK225754;AK297063;AK297084;AK310167;AK310976;AL833374;AMYH02024878;AP003108;BC004391;BC014045;BC047710;BM692535;BP296553;BP366144;BP396674;CF125719;CF541093;CH471076;DA948287;DC378209;DC389589;NM_001161452;NM_001161454;NM_001300763;NM_153611;XM_006718464;XM_006718465;XM_006718466 AAH04391;AAH14045;AAH47710;BAC11698;BAG51804;BAG59584;BAG59601;EAW73941;EAW73942;NP_001154924;NP_001154926;NP_001287692;NP_705839;Q8NBI2;XP_006718527;XP_006718528;XP_006718529 Hs.22546 2115758;2144434;2173721;2175966;5020740 A005B24;D11S1188;L17809;RH12319;WI-21475 CYBASC3;FLJ39724;LCYTB;MGC20446 OTTHUMP00000238255;OTTHUMP00000238256;OTTHUMP00000238259;OTTHUMP00000238261;cytochrome b ascorbate-dependent protein 3;cytochrome b, ascorbate dependent 3;cytochrome b561 family member A3;lysosomal cytochrome b APPROVED protein-coding ENSG00000162144 HGNC:23014 11316 VALIDATED 1353992 CYB561D2 cytochrome b561 family, member D2 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; atrazine 3 3 3 p21.3 50361128 50364331 + 50388265 50391500 + 50350834 50354069 + 1580863;6480464 11085536;12477932;15342556;15489334;16169070;16341674;16641997;17207965;19734123;21832049;23249217;8889548;9122200 11068 O14569 ABBA01024549;AC002481;AF040704;AK291167;AMYH02006769;BC047691;BM704874;BM852873;BP273508;BX641103;CH471055;CT000022;HG495673;HG495674;HG495676;HG495677;HG495678;NM_001291284;NM_007022;NR_111912;NR_111913;NR_111914;XM_005264832;XR_245221;XR_245222;XR_245223;XR_249375;XR_251360;XR_251361;XR_251362;XR_425569;XR_425570;XR_425571;XR_427339;XR_427340;XR_431594;XR_431595;Z84492 AAB67309;AAC70911;AAH47691;ADQ33030;BAF83856;EAW65113;EAW65114;NP_001278213;NP_008953;O14569;XP_005264889 Hs.149443;Hs.669905 1772352;1780408;2108743;2145572;5022588;5022651;5037552 AW049681;CYB561D2_7989;D11S2921;D5S1597E;D8S2279;RH66312;WI-19554 101F6;TSP10;XXcos-LUCA11.4 OTTHUMP00000210674;OTTHUMP00000210675;OTTHUMP00000210676;OTTHUMP00000210677;cytochrome b-561 domain containing 2;cytochrome b561 domain-containing protein 2;putative tumor suppressor 101F6;putative tumor suppressor protein 101F6 APPROVED protein-coding ENSG00000114395;ENSG00000271858 HGNC:30253 06143 607068 VALIDATED 735287 CYB5B cytochrome b5 type B (outer mitochondrial membrane) ENCODES a protein that exhibits heme binding; INVOLVED IN oxidation-reduction process (inferred); positive regulation of catalytic activity (inferred); FOUND IN membrane; INTERACTS WITH 3-methylcholanthrene; atrazine; cobalt dichloride 16 16 16 q22.1 53973073 54014760 + 69458498 69500167 + 69424595 69466264 + 6480464 11867265;12417987;12477932;14702039;14733950;14739275;15489334;19322201;19946888;20100355;20877624;21139048;21574570;21800051;21832049;21890473;21906983;22505724;22939629;23142642;23284715;23703616;24204828;24654937;24816145 80777 D6RFH4;H3BUX2;J3KNF8;J3QR91;O43169 AB009282;ABBA01025528;AC009032;AC026464;AK098148;AK125218;AK291576;AMYH02032279;BC004373;BC014431;BX647922;CH471092;HG508221;NM_030579 AAH04373;AAH14431;ADZ15952;BAA23735;BAF84265;CAI46070;EAW83275;EAW83276;NP_085056;O43169 Hs.461131 1674993;1675798;1676001;1686420;1856480;2114830;2131631;2173937;2181714;5093598 A009S26;G09709;G32813;RH65268;RH69654;RH69883;RH70407;RH79817;RH99236;SGC33587 CYB5-M;CYPB5M;DKFZp686M0619;OMB5;RP11-140H17.1 OTTHUMP00000163977;cytochrome b5 outer mitochondrial membrane isoform;cytochrome b5 type B;cytochrome b5, outer mitochondrial membrane isoform;outer mitochondrial membrane cytochrome b5;type 2 cyt-b5 protein-coding ENSG00000103018 HGNC:24374 13106 611964 VALIDATED 1349765 CYB5AP2 cytochrome b5 type A (microsomal) pseudogene 2 2 2 2 q31.1 164262935 164263253 + 170646567 170646885 + 169790057 169790375 + 1712589 100128621 ABBA01014899;AC009967;AMYH02005194;NG_016583 CYB5P2 APPROVED pseudo HGNC:2573 INFERRED 1602002 CYB5R2 cytochrome b5 reductase 2 ENCODES a protein that exhibits cytochrome-b5 reductase activity, acting on NAD(P)H; INVOLVED IN oxidation-reduction process; PARTICIPATES IN amino sugar metabolic pathway; nucleotide sugar metabolic pathway; FOUND IN membrane; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 11 11 11 p15.4 7802280 7810775 - 7686326 7695807 - 7665095 7677181 - 6480464;6907045 10611283;12477932;15858218;16189514;16712791;16713569;20877624;21988832;23972371;24338690;8889548 51700 E9PIV9;E9PMI2;E9PQW2;E9PRM4;Q6BCY4 AA814725;AB209000;ABBA01028681;AC104237;AF169802;AI342011;AK290102;AK308543;AL133582;AMYH02024282;AY665398;BC001346;BG723242;BG772396;BM968347;CB149369;CH471064;NM_016229;XM_005252973;XM_005252974;XM_005252975;XM_005252976;XM_006718250;XM_006718251;XM_006718252 AAF04811;AAT75296;BAD92237;BAF82791;CAB63726;EAW68648;EAW68649;EAW68650;EAW68651;NP_057313;Q6BCY4;XP_005253030;XP_005253031;XP_005253032;XP_005253033;XP_006718313;XP_006718314;XP_006718315 Hs.414362 1669224;1740039;2107983;2186925;5093204;5123727 A009J20;CYB5R2_8048;D11S4068;G32581;RH15972;STS-N90805 B5R.2 NADH-cytochrome b5 reductase 2;OTTHUMP00000230670;OTTHUMP00000230671;OTTHUMP00000230672;OTTHUMP00000230673;cytochrome b5 reductase b5R.2 protein-coding ENSG00000166394 HGNC:24376 06435 608342 VALIDATED 1314495 CYB5R1 cytochrome b5 reductase 1 ENCODES a protein that exhibits cytochrome-b5 reductase activity, acting on NAD(P)H (inferred); oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); sterol biosynthetic process (inferred); PARTICIPATES IN amino sugar metabolic pathway; nucleotide sugar metabolic pathway; FOUND IN extracellular vesicular exosome; membrane; mitochondrion; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 1 1 1 q32.1 176060247 176065650 - 202931001 202936404 - 202961873 202967276 - 6480464;6907045 10611283;12477932;16196087;16303743;16713569;17207965;18029348;19199708;19913121;19946888;20379614;20628086;20877624;21139048;21890473;21906983;22190034;22939629;23000965;23503661;8125298;9760250 51706 H7C0R7;Q9UHQ9 ABBA01027488;ABBA01027489;AC096632;AF087912;AF091084;AF093822;AF125533;AF169481;AK074654;AK075304;AK123705;AK223416;AK295902;AK313333;AMYH02002507;AY359026;BC000034;BC018732;BC127945;CH471067;CQ783902;CS072296;NM_016243 AAC72953;AAF06147;AAF17227;AAH18732;AAI27946;AAP97209;AAP97218;AAQ89385;ADQ31663;BAC11115;BAD97136;BAG36137;BAG58694;CAF86916;CAI93434;EAW91451;EAW91452;EAW91453;EAW91454;NP_057327;Q9UHQ9 Hs.334832 1734390;2151917;2217230;5109647 CYB5R1_3828;D1S1755E;D1S1820E;D1S1872E B5R.1;B5R1;B5R2;NQO3A2;humb5R2 NAD(P)H:quinone oxidoreductase type 3 polypeptide A2;NAD(P)H:quinone oxidoreductase type 3, polypeptide A2;NADH-cytochrome b5 reductase 1;OTTHUMP00000038802;OTTHUMP00000038998 protein-coding ENSG00000159348 HGNC:13397 06434 608341 VALIDATED 1345596 CYB5P1 cytochrome b-5 pseudogene 1 1840560 1529 HGNC:2572 1606739 CYB5D2 cytochrome b5 domain containing 2 ENCODES a protein that exhibits heme binding (inferred); INVOLVED IN nervous system development (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; hydrogen peroxide 17 17 17 p13.2 4058042 4072567 + 4046441 4060995 + 4143168 4157701 + 6480464 12477932;16344560;16712791;24039173;8889548 124936 I3L497;Q8WUJ1 AA479992;ABBA01054755;AC087292;AK172844;AK313088;AMYH02032817;BC020263;BC051697;BM681125;BX327481;CB112805;CB129650;CH471108;CK821986;DA346215;EB386356;H57026;NM_001254755;NM_001254756;NM_144611;XM_005256448;XM_005256449;XM_006721447 AAH20263;AAH51697;ABM82622;ABM85803;BAD18808;BAG35913;EAW90452;EAW90453;EAW90454;NP_001241684;NP_001241685;NP_653212;Q8WUJ1;XP_005256505;XP_005256506;XP_006721510 Hs.513871 1698896;2133981;5015961;5092446;5092450;5109281 D15S1477;D17S2158;D1S1425;G54288;G54290;RH103016 MGC32124 cytochrome b5 domain-containing protein 2;neuferricin protein-coding ENSG00000167740 HGNC:28471 14549 VALIDATED 1603917 CYB5D1 cytochrome b5 domain containing 1 ENCODES a protein that exhibits heme binding (inferred); metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; bucladesine 17 17 17 p13.1 7788885 7793421 + 7761064 7765691 + 7857746 7862447 + 6480464;8554872 12477932;14702039;21145461 124637 I3L321;I3NI34;Q6P9G0 ABBA01054889;AC104581;AK022811;AK057061;AK125598;AK289520;AMYH02032916;BC060779;CH471108;NM_144607;XM_005256440 AAH60779;BAB71357;BAF82209;EAW90119;EAW90120;EAW90121;EAW90122;NP_653208;Q6P9G0;XP_005256497 Hs.27475 1854944;2126984;2132294;2146160;2162947;2191317 A008B35;HSC1HE012;MARC_17348-17349:1021492261:7;RH18472;RH36044;WI-11540 FLJ32499 cytochrome b5 domain-containing protein 1 protein-coding ENSG00000182224 HGNC:26516 13408 VALIDATED 1313951 CYBRD1 cytochrome b reductase 1 This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 165995455 166031219 + 172378757 172414643 + 171522247 171558133 + 6480464 11230166;11230685;12477932;12949720;14499595;15338274;16344560;17068337;17975119;18092813;18194661;18492824;19023099;19056867;19664597;19673882;20587610;22773607;23012398;8125298 79901 C9JML1;Q53TN4 ABBA01020726;AC007969;AK026654;AK027115;AK128495;AK225459;AK291731;AK301485;AK316588;AL136693;AL834483;AMYH02005223;AMYH02005224;BC016900;BC065290;BP418883;CB266594;CB266845;CH471058;CX866825;DA211209;DB000953;DB235339;DQ496101;NM_001127383;NM_001256909;NM_024843 AAH65290;AAY14730;ABF47090;ADR82645;BAB15661;BAC87466;BAF84420;BAG38176;BAG62999;CAB66628;EAX11210;NP_001120855;NP_001243838;NP_079119;Q53TN4 Hs.221941 1339266;1687473;1734926;1764803;1769672;1774338;1774340;1853288;1856235;2117709;2121932;2141444;2171458;2173224;2174832;2175269;5094132 A005Z27;D2S1693E;D2S333;G20626;G54564;RH36126;RH36319;RH45915;RH46529;RH47665;RH67773;RH68494;RH77929;RH80920;SHGC-148368;SHGC-32577;WI-18302 CYB561A2;DCYTB;FLJ23462;FRRS3 OTTHUMP00000163092;OTTHUMP00000205024;OTTHUMP00000205025;OTTHUMP00000205026;cytochrome b561 family, member A2;duodenal cytochrome b;ferric-chelate reductase 3 APPROVED protein-coding ENSG00000071967 HGNC:20797 05764 605745 VALIDATED 733318 CYB5R4 cytochrome b5 reductase 4 NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010] 6 6 6 pter-q22.33 85002725 85103498 + 84569370 84670146 + 83859651 83960427 + 1580863;2315647;2315644;6480464;8554872 15247412;15504981 10611283;11076863;11230166;12477932;15131110;15489336;16344560;16381901;19913121;20628086;20630863;22627575;22990118;23523930;24250222 51167 B2R7W7;Q7L1T6 ABBA01040459;ABBA01040460;AF169803;AK313146;AL034347;AL139232;AL832113;AMYH02014019;AMYH02014020;BC025380;BC029339;DA274558;EU448291;NM_016230 AAF04812;AAH25380;ABM82993;ABM86186;ACA06109;BAG35964;CAL37911;NP_057314;Q7L1T6 Hs.5741 1341090;2109545;2119012;2120526 A006A45;D6S1634;NCB5OR_9678;RH37476 NCB5OR;RP4-676J13.1;cb5/cb5R;dJ676J13.1 N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing protein;NADPH cytochrome B5 oxidoreductase;OTTHUMP00000016802;cytochrome b-type NAD(P)H oxidoreductase;flavohemoprotein b5+b5R;flavohemoprotein b5/b5R APPROVED protein-coding HGNC:20147 12218 608343 VALIDATED 734174 CYBA cytochrome b-245, alpha polypeptide Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008] 16 16 16 q24 73779369 73787129 - 88709697 88717492 - 88643289 88651084 - 734861;1580275;1580276;1578443;1331525;1600791;1580863;4773907;4780358;4779762;4762683;2317853;4304108;4311041;2317854;1599510;4266589;4772770;1599683;2317864;4775206;2317860;2317852;2306994;4293707;6480464;6907045;7240710;8554872;8699517;8695982 10488959;12729892;1415254;14709372;14747204;15118671;15148062;16345062;16608528;16741160;17109653;18422995;18424632;18716406;18762777;18952568;19420110;19459419;19567155;19685553;20018820;20080081;20226688;20367952;2243141 10486263;10759707;11023926;11133215;11248021;11258927;11530961;11733522;11854221;11893732;11910303;11917128;11940577;12005167;12042318;12056906;12073015;12121978;12147803;12226552;12230880;12446192;12477932;12482831;12514663;12547880;12639216;12679469;12697486;12716910;12772776;12927691;14578247;14652666;14679084;14702039;14968555;15078863;15102859;15135268;15167446;15172469;15186954;15193812;15210651;15219943;15231747;15255799;15256399;15322037;15322091;15461271;15489334;15530459;15538122;15561711;15671602;15683718;15824103;15838728;15865106;15927447;15936011;15994299;16002772;16076760;16110781;16115038;16215641;16293794;16308493;16326715;16330681;16358232;16460309;16543247;16546843;16738684;16754784;16788250;16794479;16895900;16899095;16922713;16923427;16998253;17015440;17140397;17149600;17151330;17200123;17227953;17307262;17314996;17336700;17337886;17383305;17445342;17563559;17565201;17617024;17620958;17627182;1763037;17684442;17684477;17703412;17880563;17996248;18004884;18077487;18158642;18239158;18309110;18324526;18327409;18390927;18398337;18413200;18429753;18546332;18672803;18720901;18781797;18799874;18801380;18849343;18927546;19012493;19043982;19060904;19089790;19102345;19126404;19151692;19198108;19203534;19222940;19251588;19260521;19292887;19336475;19388116;19401454;19420105;19423521;19423540;19448608;19466604;19516159;19531958;19564823;19574552;19578796;19689263;19853876;19913121;19946888;19949658;19965945;20031716;20100625;20167518;20215507;20304964;20367096;20375611;20378006;20392440;20406964;20407811;20438785;20454568;20495074;20503287;20505675;20512451;20523355;20565774;20581851;20598694;20603655;20628086;20708598;21045268;21048031;21082491;21086617;21118808;21136016;21237524;21282351;21622150;21624462;21640156;21699462;21777168;21884584;21906983;21962117;21963094;21973220;21988832;22268370;22357521;22396743;22410402;22496489;22613645;22747689;22807997;22808130;2286377;22876374;22884975;22919264;22932942;22995606;22997914;23409188;23576480;23684671;23701472;23755540;23821607;23905423;23922196;23949976;24033955;24035466;24039708;24113386;24349292;2469497;24864467;25095657;3305576;3368442;7938008;7964505;8798532;8920944;9083043;9121467 1535 B4DT46;H3BNP7;H3BPX1;H3BPZ7;H3BR52;H3BT77;P13498 ABBA01015843;AC116552;AK097127;AK125578;AK300049;AK309030;AMYH02032641;BC006465;BC011565;BC028224;BC033739;BT006861;BX109994;CH471184;M21186;NG_007291;NM_000101 AAA90925;AAH06465;AAP35507;ABM84161;ABM87564;BAG61858;EAW66793;EAW66794;EAW66795;EAW66796;NP_000092;P13498 Hs.513803 1725663;2109537;2119060;2119209;2137167;2167330;5015619;5022651;5024756;5037552 D11S2921;D11S3114;D8S2279;G62102;MVD_8513;RH68091;RH80030;SHGC-60150;SHGC-60170;STS-U49260 FLJ43590;FLJ99071;p22-PHOX cytochrome b light chain;cytochrome b(558) alpha chain;cytochrome b(558) alpha-subunit;cytochrome b, alpha polypeptide;cytochrome b-245 light chain;cytochrome b558 alpha-subunit;cytochrome b558 subunit alpha;flavocytochrome b-558 alpha polypeptide;neutrophil cytochrome b 22 kDa polypeptide;p22 phagocyte B-cytochrome;p22phox;superoxide-generating NADPH oxidase light chain subunit APPROVED protein-coding ENSG00000051523 HGNC:2577 01989 233690;608508 VALIDATED 731731 CYB5R3 cytochrome b5 reductase 3 This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010] 22 22 22 q13.2 26924326 26955882 - 43013846 43045405 - 42617840 42649399 - 1580863;734886;1599771;1300048;6480464;6907045;7240710;8699517;8554872 10874300;11295830 10591208;10807796;12393396;12477932;12884529;1324793;1352356;1400360;14741744;15039026;15297856;15461802;15488472;15489334;15502298;15622768;15813912;15921385;15944396;16009131;16196087;16344560;16712791;1707593;17620407;18029348;18343696;1898726;19811411;19946888;19997042;2019583;2107882;21139048;2123873;21266463;21319273;21328435;21349748;21447608;21890473;21906983;221468;22779921;22939629;23000965;23297489;23503661;23703616;23866629;2479590;2498303;25027693;3035541;3268037;3700359;4403130;6389526;7668255;7718898;8119939;8221686;8427971;8978818;9048929;9136051;9207238;9266404;9639531;9695975;9886302 1727 B1AHF3;P00387 ABBA01017932;ABBA01017933;AF061830;AF061831;AF361370;AJ010116;AJ010117;AJ010118;AJ310899;AJ310900;AK124528;AK302204;AMYH02038464;AY341030;AY421733;AY421734;BC004821;BM564146;BP425383;BT009821;BX334220;BX366240;CB118906;CH471138;CR456435;DA268749;DA548643;DA966919;DB029897;M16461;M16462;M28705;M28706;M28707;M28708;M28709;M28710;M28711;M28712;M28713;NG_012194;NM_000398;NM_001129819;NM_001171660;NM_001171661;NM_007326;Y09501;Z93241 AAA52306;AAA52307;AAA59900;AAF06818;AAF06819;AAH04821;AAL87744;AAP88823;AAP88936;AAR38507;AAR38508;BAC85875;BAH13649;CAA09006;CAA09007;CAA09008;CAA70696;CAC84523;CAC84524;CAG30321;CAK54426;CAK54725;EAW73268;EAW73269;EAW73270;EAW73271;EAW73272;EAW73273;NP_000389;NP_001123291;NP_001165131;NP_001165132;NP_015565;P00387 Hs.561064 1339305;1657132;1675497;1775492;2129611;2161329;2181842;2220506;5014051;5015619;5022122;5022200;5024756;5037552 AL008666;D11S3114;D16S521;D22S1545;D8S2278;D8S2279;L18426;RH27822;RH70318;RH80030;SHGC-7735;STS-D29393;STS-M16462;UniSTS:483707 B5R;DIA1 NADH-cytochrome b5 reductase 3;NADH-cytochrome b5 reductase 3 membrane-bound form;NADH-cytochrome b5 reductase 3 soluble form;OTTHUMP00000198435;OTTHUMP00000198574;OTTHUMP00000198662;OTTHUMP00000198665;diaphorase 1;diaphorase-1 APPROVED protein-coding ENSG00000100243 HGNC:2873 08942 250800;613213 REVIEWED 2302325 CYB5RL cytochrome b5 reductase-like ENCODES a protein that exhibits cytochrome-b5 reductase activity, acting on NAD(P)H (inferred); oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); INTERACTS WITH cadmium dichloride; methyl methanesulfonate; valproic acid 1 1 1 p32.3 52925647 52953373 - 54638009 54665746 - 54172336 54200073 - 6480464 12477932;16344560 606495 E9PL89;E9PMD3;F8VW03;F8WDU4;H0YDY7;Q6IPT4 ABBA01074726;ABBA01074727;AK090456;AL357673;AMYH02001046;BC012781;BC038388;BC049198;BC064419;BC071735;CD515193;DA793739;NM_001031672 BAC03437;NP_001026842;Q6IPT4 Hs.591426 1692280;2174040;5022578;5037552;5111307 AL033800;D1S1423;D8S2279;GDB:312766;SHGC-74850 FLJ16295 NADH-cytochrome b5 reductase-like;OTTHUMP00000207717;OTTHUMP00000232139 protein-coding HGNC:32220 PROVISIONAL 1315303 CYC1 cytochrome c-1 This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013] 8 8 8 q24.3 141487538 141489945 + 145149960 145152428 + 144095035 144097527 + 1580863;1300048;6480464;6907045;8699517;7240710;8554872 10453733;11181702;12095993;12096338;12477932;12750393;12750404;12788227;14966123;15146197;15489334;15544925;16511342;16699948;17500595;18029348;19946888;20360068;20440543;20562859;20628624;20877624;21139048;21150319;21577235;21890473;21906983;21963094;22268729;22304920;22505724;22939629;22990118;23874603;23910460;24337577;25027693;2536365;2836796;2839188;2999105;3036122;6262312;8125298;8188279 1537 P08574;Q8TBT6 ABBA01005225;AC104592;AK026633;AK225796;AMYH02018956;BC001006;BC015616;BC020566;BC024650;BE336714;BG328536;BQ574597;BT019798;CH471162;CN369438;CR541674;CR735564;DQ300360;J04444;M16597;NG_033872;NM_001916;X06994 AAA35730;AAA52135;AAH01006;AAH15616;AAH20566;AAH24650;AAV38601;ABB96244;ABM82412;ABM85597;CAA30052;CAG46475;EAW82160;NP_001907;P08574 Hs.289271 2142930 RH11674 MC3DN6;UQCR4 OTTHUMP00000229040;complex III subunit 4;complex III subunit IV;cytochrome b-c1 complex subunit 4;cytochrome c1, heme protein, mitochondrial;ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit protein-coding ENSG00000179091 HGNC:2579 00480 123980;615453 REVIEWED 1349144 CYCSP1 cytochrome c, somatic pseudogene 1 14 14 14 q24.3 57138739 57139053 + 77100057 77100371 + 76633714 76634028 + 12909341;2849112 122950 ABBA01030675;AC008050;AF533197;AMYH02029552;M22886;NG_002985 HC5;HCP36 pseudo HGNC:20095 INFERRED 1350492 CYBB cytochrome b-245, beta polypeptide Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008] X X X p21.1 41776951 41810391 + 37639266 37672718 + 37780017 37813461 + 1599691;1580863;1599682;1599677;1599680;1599681;1599685;1599690;1599683;1599664;4762683;6480464;7240710;8554872;8699517 11157681;11243862;12472782;15148062;15550752;16373592;16671452;16766636;18952568;8083361 10578014;10914676;10974555;11248021;11258927;11462241;11511930;11893732;11917128;11926990;11997083;12042318;12139950;12477932;12482831;12589359;12716910;12768347;12772776;14605447;15102091;15181570;15233623;15249506;15256399;15308575;15322037;15377283;15454837;15479231;15489334;15569826;15681849;15684431;15706079;15777347;15883163;16179592;16260066;16344560;16354686;16516412;16608528;16839887;16895900;16987004;17015440;17060362;17089090;1710153;17363703;17848987;17940286;18089853;18202172;18278805;18321306;18397177;18402298;18402299;18453612;18467643;18473264;18523147;18546332;18676680;18682599;18774749;18783311;18854154;1905983;19116138;19118104;19170196;19217269;19265148;19307214;19337723;19390057;19401454;19410294;19536508;19625176;19692168;19708127;19717732;19801678;19805647;19839755;19843513;19895673;19929442;19965781;19995913;20036216;20043988;20056178;20080418;20219570;20346360;20375611;20407811;20495074;20630999;20708598;20724480;20729109;20803017;20813210;20832062;20849923;20861446;21029719;21042717;21071703;21124855;21172429;21278346;21278736;21444627;21524749;21604087;21636808;21659519;21683690;21742780;21796650;21901141;21906983;21956105;22038300;22125116;22191478;22272860;22277655;22287576;22336250;22354003;22382877;22383943;22399808;2243141;22493499;22528837;22550344;22562447;22690528;22727869;22746273;22808130;22865553;22869144;22876374;22933115;22938164;23095975;23118986;23216310;23237808;23288160;23333803;23349115;23476056;23503476;23898208;23919599;23955717;24053613;24081483;2425263;24374334;24393844;24681145;2556453;3305576;3600768;3600769;7694872;7719350;7927345;7938008;8101486;8182143;8634708;9083043;9083071;9111587;9585602;9667376;9774399;9790760;9856476;9888386 1536 P04839 AB013904;ABBA01047084;ABBA01047085;ABBA01047086;ABBA01047087;ABBA01047088;ABBA01047089;AC233292;AF469769;AK289753;AK301476;AK301491;AK304033;AK312929;AL627245;AMYH02039170;BC032720;CH471141;DA995835;DQ314869;NG_009065;NM_000397;S67289;X04011;X05895 AAB29151;AAH32720;AAL76082;ABC40728;ABM81804;ABM84958;BAA34183;BAF82442;BAG62993;BAG63002;BAG64947;CAA27635;CAA29327;EAW59453;NP_000388;P04839 Hs.292356 1702446;1702474;1765043;1787236;2130562;2143857;2150995;2182711 AF020154;DXS1394;DXS7487;G10525;GDB:211078;RH35737;SHGC-132083;SHGC-148585 AMCBX2;CGD;GP91-1;GP91-PHOX;GP91PHOX;IMD34;NOX2;p91-PHOX CGD91-phox;NADPH oxidase 2;OTTHUMP00000031915;cytochrome b(558) subunit beta;cytochrome b-245 heavy chain;cytochrome b558 subunit beta;heme-binding membrane glycoprotein gp91phox;neutrophil cytochrome b 91 kDa polypeptide;p22 phagocyte B-cytochrome;superoxide-generating NADPH oxidase heavy chain subunit APPROVED protein-coding ENSG00000165168 HGNC:2578 02382 300481;300645;306400 REVIEWED 1606898 CYCSP13 cytochrome c, somatic pseudogene 13 p25.2 12909341 360169 AF533174;NG_002964 HCP13 pseudo HGNC:24387 1606901 CYCSP10 cytochrome c, somatic pseudogene 10 3 3 3 p25.3 9977774 9978081 - 10042324 10042631 - 10000640 10000947 - 12909341 360166 ABBA01020396;AC022007;AF533171;AMYH02006243;NG_002961 2136811 D3S3451 HCP10 pseudo HGNC:24384 INFERRED 1606899 CYCSP12 cytochrome c, somatic pseudogene 12 3 3 3 p25.2 11857485 11857788 - 11920291 11920594 - 11878817 11879120 - 12909341 360168 ABBA01025211;AC090958;AC226154;AF533173;AF533174;AMYH02006280;NG_002963 CYCSP13;HCP12;HCP13 pseudo HGNC:24386 INFERRED 1606900 CYCSP11 cytochrome c, somatic pseudogene 11 3 3 3 p25.3 10034699 10035593 - 10099246 10100140 - 10057562 10058456 - 12909341 360167 ABBA01020394;AC034193;AF533172;AMYH02006245;NG_002962;NG_007311 HCP11 pseudo HGNC:24385 INFERRED 1606896 CYCSP16 cytochrome c, somatic pseudogene 16 6 6 6 q15 90130328 90130498 - 89712449 89712619 - 89002730 89002900 - 12909341 360171 ABBA01040523;AF533177;AL079342;AMYH02014071;NG_002966 HCP16 pseudo HGNC:24389 INFERRED 1604618 CYCS cytochrome c, somatic This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010] 7 7 7 p15.3 25146921 25154374 - 25158270 25164980 - 25118651 25125361 - 2313963;2313998;2317615;2317614;6480464;6484113;6907045;7240710;8554872;8699517 11920648;18817839;18931364;19788692 10082581;10206961;10383829;10506125;10622714;10625700;10683230;10801801;10818086;10980706;11076863;11193032;11230166;11256614;11462036;11737208;11739707;11784858;11790791;11839755;12019321;12101247;12147322;12243190;12404116;12416732;12477932;12555167;12690205;12853948;12909341;1309738;13933734;14063298;14702039;15033690;15254227;15489334;15489336;15691386;15698476;16196087;16381901;16520893;16713569;16934433;17353931;17409234;18345000;18417609;18825408;18973553;18976975;19029908;19172527;19404857;19458171;19640329;19770576;19812265;19851871;19875445;19895853;199233;20227384;20237496;20877624;20972266;21139048;21192676;21319273;21448217;2153405;21693764;21706253;21712378;21751259;21869827;21890473;21906983;22102269;22157762;22184220;22192356;22216281;22320973;22363611;22505724;22552851;22623428;22632162;22939629;23000965;23070294;23150584;23207240;23334161;23364796;23535033;24163370;24250222;24326104;24329121;24816145;2580882;2844747;2849112;4403130;6087732;6088481;6251869;6262312;6270113;8206937;8663341;8689682;9027314;9192670;9267021;9390557;9515723;9615439;9760250;9847074;9922454 54205 C9JFR7;G4XXL9;P99999 ABBA01056732;AC004129;AC007487;AI365318;AK056360;AK311836;AL713681;AMYH02015384;BC005299;BC008475;BC008477;BC009578;BC009579;BC009582;BC009587;BC009602;BC009607;BC014359;BC014361;BC015130;BC016006;BC021994;BC022330;BC024216;BC067222;BC068464;BC070156;BC070346;BC071761;BF446772;BG677560;BT006946;BU597562;CH236948;CH471073;CR542175;D00265;DB447825;M22877;NG_023438;NM_018947 AAA35732;AAH05299;AAH08475;AAH08477;AAH09578;AAH09579;AAH09582;AAH09587;AAH09602;AAH09607;AAH14359;AAH14361;AAH15130;AAH16006;AAH21994;AAH22330;AAH67222;AAH68464;AAH70156;AAH70346;AAH71761;AAP35592;AAQ96844;ABM83964;ABM87278;BAA00187;BAG34778;CAD28485;CAG46972;CAL38091;CAL38301;EAL24239;EAW93822;EAW93823;EAW93824;NP_061820;P99999 Hs.437060;Hs.617193 1655798;2122196;5015879;5016478;5016700;5020881;5117897;5123731 D1S3438;GDB:314949;GDB:434012;GDB:631813;L17709;RH78202;RH79802;SHGC-60475 CYC;HCS;THC4 OTTHUMP00000158609;OTTHUMP00000202043;OTTHUMP00000202044;OTTHUMP00000202045;cytochrome c APPROVED protein-coding HGNC:19986 00479 123970;612004 REVIEWED 1606895 CYCSP17 cytochrome c, somatic pseudogene 17 6 6 6 q16.1 96593395 96593709 + 95952058 95952372 + 95504182 95504496 + 12909341 360172 ABBA01014533;AF533178;AL731777;AMYH02014149;NG_002967 HCP17 pseudo HGNC:24390 INFERRED 1606893 CYCSP19 cytochrome c, somatic pseudogene 19 7 7 7 q31.32 115847699 115848015 + 121038508 121038824 + 121398454 121398770 + 12909341 360174 ABBA01057760;AC074085;AF533180;AMYH02016667;CH236947;NG_002969 1695512;1846989 D7S1648;SHGC-68665 HCP19 pseudo HGNC:24392 INFERRED 1606897 CYCSP14 cytochrome c, somatic pseudogene 14 4 4 4 q28.2 128324863 128325159 - 130943742 130944038 - 130022587 130022883 - 12909341 360170 ABBA01044837;AC097481;AF533175;AMYH02010109;NG_002965 HCP14 pseudo HGNC:24388 INFERRED 1351760 CYCSP2 cytochrome c, somatic pseudogene 2 15 15 15 q15.1 18168958 18169270 + 41401063 41401375 + 41108865 41109177 + 12909341 360183 ABBA01038425;AC021753;AF533198;AMYH02030262;NG_002986;NG_017163 HCP37 pseudo HGNC:24410 INFERRED 1604546 CYCSP25 cytochrome c, somatic pseudogene 25 11 11 11 p13 31449644 31449963 - 31302215 31302534 - 31280668 31280987 - 12909341;2849112 120528 ABBA01060930;AF533186;AL162614;AMYH02024538;M22892;NG_002975 1664032;1670630 SHGC-32530;STS-AA017167 HC10;HCP25 pseudo HGNC:24399 INFERRED 1606894 CYCSP18 cytochrome c, somatic pseudogene 18 7 7 7 q21.3 90456997 90457232 - 95757139 95757374 - 96127827 96128062 - 12909341 360173 ABBA01045774;AC002540;AF533179;AMYH02016301;CH236949;NG_002968;NG_012247 1336536 D7S1812 HCP18 pseudo HGNC:24391 INFERRED 1606892 CYCSP22 cytochrome c, somatic pseudogene 22 8 8 8 q11.22 47662888 47663200 - 51675046 51675358 - 50762486 50762798 - 12909341 360175 ABBA01041685;AC087173;AF533183;AMYH02017959;NG_002972 HCP22 pseudo HGNC:24396 INFERRED 1606891 CYCSP23 cytochrome c, somatic pseudogene 23 8 8 8 q24.12 116819407 116819725 - 120630396 120630714 - 119618156 119618474 - 12909341 360176 ABBA01037817;AC099818;AF533184;AMYH02018677;NG_002973;NG_029498 HCP23 pseudo HGNC:24397 INFERRED 1606889 CYCSP26 cytochrome c, somatic pseudogene 26 11 11 11 q12.1 55129924 55130248 + 57772858 57773182 + 58005386 58005710 + 12909341 360178 ABBA01021483;AF533187;AMYH02024851;AP003484;NG_002976 HCP26 pseudo HGNC:24400 INFERRED 1605537 CYCSP27 cytochrome c, somatic pseudogene 27 11 11 11 q13.4 71500059 71500356 + 74193295 74193592 + 74482250 74482547 + 12909341 341148 ABBA01017486;AF533188;AMYH02025107;AP001372;NG_002977 HCP27 pseudo HGNC:24401 INFERRED 1606745 CYCSP30 cytochrome c, somatic pseudogene 30 12 12 12 q21.32 87811209 87814038 + 88140324 88144091 + 87746547 87750314 + 12909341 121026 ABBA01053430;AC079598;AF533191;AMYH02026894;AMYH02026895;NG_002980 HCP30 pseudo HGNC:24405 INFERRED 1606886 CYCSP32 cytochrome c, somatic pseudogene 32 13 13 13 q12.11 1094415 1094732 - 20032541 20032858 - 19458401 19458718 - 12909341 360181 ABBA01068555;AF533193;AL590076;AMYH02027613;NG_002981 HCP32 pseudo HGNC:24406 INFERRED 1606887 CYCSP29 cytochrome c, somatic pseudogene 29 11 11 11 q22.3 105847925 105848242 - 108693060 108693377 - 108822333 108822650 - 12909341 360180 ABBA01039860;AF533190;AMYH02025556;AP003387;NG_002979 HCP29 pseudo HGNC:24403 INFERRED 1606888 CYCSP28 cytochrome c, somatic pseudogene 28 11 11 11 q14.1 80349582 80349907 + 83039969 83040294 + 83328926 83329251 + 12909341 360179 ABBA01017362;AF533189;AMYH02025191;AP002500;NG_002978 HCP28 pseudo HGNC:24402 INFERRED 1606675 CYCSP33 cytochrome c, somatic pseudogene 33 13 13 13 q12.12 6038152 6038469 + 24974850 24975167 + 24400712 24401029 + 12909341 221180 ABBA01007889;AF533194;AL359763;AMYH02027706;NG_002982 HCP33 pseudo HGNC:24407 INFERRED 1604945 CYCSP20 cytochrome c, somatic pseudogene 20 7 7 7 q32.1 123554073 123554387 - 128757567 128757881 - 129117513 129117827 - 12909341 349158 ABBA01057643;AC011005;AF533181;AMYH02016728;CH236950;NG_002970 HCP20 pseudo HGNC:24394 INFERRED 1352181 CYCSP3 cytochrome c, somatic pseudogene 3 8 8 8 p12 32776857 32777174 - 33827079 33827396 - 33969561 33969878 - 12909341;2849112 349198 ABBA01023600;AF279873;AF533182;AMYH02017774;M22893;NG_002971 HCP21;HS7 pseudo HGNC:24395 INFERRED 1606906 CYCSP4 cytochrome c, somatic pseudogene 4 1 1 1 q32.1 175462559 175462835 - 202338654 202338930 - 202369526 202369802 - 12909341 360157 ABBA01027501;AF533165;AL589762;AMYH02002496;NG_002955 HCP4 pseudo HGNC:24413 INFERRED 1606885 CYCSP34 cytochrome c, somatic pseudogene 34 13 13 13 q14.11 22495199 22495512 - 41437730 41438042 - 40863594 40863906 - 12909341 360182 ABBA01021287;AF533195;AL590064;AMYH02027911;NG_002983 HCP34 pseudo HGNC:24408 INFERRED 1606890 CYCSP24 cytochrome c, somatic pseudogene 24 9 9 9 q22.32 67241867 67242182 + 96800312 96800627 + 94038030 94038345 + 12909341;2849112 360177 ABBA01017680;AF533185;AF533192;AL360020;AMYH02021250;M22880;NG_002974 HC3;HCP24;HCP31 pseudo HGNC:24398 INFERRED 1605807 CYCSP39 cytochrome c, somatic pseudogene 39 16 16 16 p12.1 24244027 24244335 - 25465660 25465968 - 25454339 25454647 - 12909341;2849112 342358 ABBA01017125;AC130451;AF533200;AMYH02031750;M22878;NG_002988 HC1;HCP39 pseudo HGNC:24412 INFERRED 1606884 CYCSP38 cytochrome c, somatic pseudogene 38 15 15 15 q21.3 37738772 37739045 + 60850279 60850552 + 60558080 60558353 + 12909341;2849112 360184 ABBA01038944;AC107241;AF533199;AMYH02030556;KC877565;M22879;NG_002987;NG_029246 HC2;HCP38 pseudo HGNC:24411 INFERRED 1606883 CYCSP40 cytochrome c, somatic pseudogene 40 17 17 17 q25.3 71790969 71791211 - 75195383 75195625 - 77199301 77199543 - 12909341;2849112 360185 ABBA01028714;AC068594;AF533201;AMYH02034031;M22890;NG_002989 HC7;HCP40 pseudo HGNC:24414 INFERRED 1606882 CYCSP43 cytochrome c, somatic pseudogene 43 X X X q13.1 69058521 69058832 - 68705184 68705495 - 69485341 69485652 - 12909341 360187 ABBA01067466;AF533204;AL139110;AMYH02039649;NG_002992 HCP43 pseudo HGNC:24417 INFERRED 1604248 CYCSP35 cytochrome c, somatic pseudogene 35 13 13 13 q32.2 80125950 80126262 - 99281938 99282250 - 98629684 98629996 - 12909341;2849112 121916 ABBA01027136;AF533196;AL356423;AMYH02028579;M22891;NG_002984 HC8;HCP35 pseudo HGNC:24409 INFERRED 1348868 CYCSP42 cytochrome c, somatic pseudogene 42 21 21 21 q21.1 2033087 2033345 - 16862843 16863101 - 15490524 15490782 - 10830953;12909341 343727 ABBA01057086;AF533203;AJ009632;AMYH02037527;NG_002991 CYC1LP5;HCP42 cytochrome c-1-like pseudogene 5 pseudo HGNC:2581 INFERRED 1606880 CYCSP49 cytochrome c, somatic pseudogene 49 q11.223 12815422;12909341 360189 AC019099;AF533210;NG_002999 HCP49 pseudo HGNC:23943 1345481 CYCSP41 cytochrome c, somatic pseudogene 41 21 21 21 p11 320 512 - 10935975 10936167 - 10576290 10576482 + 10830953;12909341 360186 ABBA01150625;AC244144;AF533202;AL078471;NG_002990;NG_034032 1794184 PMC310823P6 CYC1LP4;HCP41 cytochrome c-1-like pseudogene 4 pseudo HGNC:2580 INFERRED 1606905 CYCSP5 cytochrome c, somatic pseudogene 5 1 1 1 q44 218051591 218051888 - 244761692 244761989 - 244598390 244598687 - 12815422;12909341 360158 ABBA01047195;AC099757;AF533166;AMYH02003085;NG_002956;NG_029082 HCP5 pseudo HGNC:24416 INFERRED 1606881 CYCSP48 cytochrome c, somatic pseudogene 48 Y Y Y q11.223 9479090 9479366 + 28547101 28547377 + 26400954 26401230 + 12815422;12909341 360188 ABBA01015506;AC013734;AF533209;NG_002995 HCP48 pseudo HGNC:23942 INFERRED 1603339 CYCSP52 cytochrome c, somatic pseudogene 52 1 1 1 q22 130169345 130169654 + 157098154 157098463 + 157128362 157128671 + 12909341;2849112 360155 ABBA01016640;AF533163;AL157713;AMYH02001989;M22889;NR_001560;R91166;R91214 Hs.491808 HC6;HCP2 pseudo ENSG00000235700 HGNC:24393 PROVISIONAL 1605528 CYCSP45 cytochrome c, somatic pseudogene 45 X X X q28 153340388 153340705 + 153106806 153106923 + 153841351 153841468 + 12909341 352852 ABBA01045348;AF533206;AMYH02040845;NG_002994;U52111 1694398 G42894 HCP45 pseudo HGNC:24419 INFERRED 1604468 CYCSP44 cytochrome c, somatic pseudogene 44 X X X q27.3 144570534 144570853 + 144258102 144258421 + 145176582 145176901 + 12909341;20889312 349391 ABBA01054431;AF533205;AL139112;AMYH02040715;NG_002993 HCP44 pseudo HGNC:24418 INFERRED 1605542 CYCSP46 cytochrome c, somatic pseudogene 46 X Y Y q11.221 4038512 4039572 - 17052569 17053629 - 14940689 14941749 - 12815422;12909341;9847074 286550 ABBA01056997;AC006989;AF533207;AF533208;NG_002926 HCP46;HCP47 pseudo HGNC:23941 INFERRED 1603851 CYCSP51 cytochrome c, somatic pseudogene 51 1 1 1 q21.3 123992066 123992383 + 150876372 150876689 + 150903896 150904213 + 12909341 343045 ABBA01049360;AF533162;AL355860;AMYH02001866;NG_002953 HCP1 pseudo HGNC:24383 INFERRED 2881605 CYCSP49 cytochrome c, somatic pseudogene 49 Y Y Y q11.223 9627367 9628299 + 28695511 28696513 + 26549364 26550366 + 12815422;12909341;9847074 360009 ABBA01015486;AC019099;AF533210;NG_002927 CYCSP54;HCP49 APPROVED pseudo HGNC:23943 INFERRED 1606904 CYCSP6 cytochrome c, somatic pseudogene 6 INTERACTS WITH paracetamol 2 2 2 p12 78468716 78469026 - 78639910 78640220 - 78412784 78413094 - 6480464 12477932;12909341;18951430 360159 ABBA01075652;AC064872;AF533167;AMYH02004118;NG_002957 HCP6;MGC33502 pseudo HGNC:24421 INFERRED 1351407 CYCSP55 cytochrome c, somatic pseudogene 55 6 6 6 p21.31 35741510 35743076 + 34187149 34188714 + 34219372 34220937 + 12909341;2849112 157317 ABBA01038177;AF533176;AL354740;AMYH02013509;M22900;NG_007352 CYCSL1;HCP15;HS11;bA513I15.3 APPROVED pseudo HGNC:21252 VALIDATED 1606907 CYCSP53 cytochrome c, somatic pseudogene 53 1 1 1 q23.3 144523236 144523515 - 171413823 171414102 - 171444684 171444963 - 12909341 360156 ABBA01027930;AF533164;AL049762;AMYH02002140;NG_002954 HCP3 pseudo HGNC:24404 INFERRED 1345183 CYGB cytoglobin This gene encodes a globin protein found in vertebrate cells. The encoded protein is described as a hexacoordinate hemoglobin which binds ligand differently from the pentacoordinate hemoglobins involved in oxygen transport, and may be involved in protection during oxidative stress. This gene is located on chromosome 17 in the same region as a retinal gene which is mutated in progressive rod-cone degeneration, but in the opposite orientation. [provided by RefSeq, Jan 2012] 17 17 17 q25 71115779 71126119 - 74523430 74533987 - 76527348 76537905 - 1580863;6480464 11320098;11893755;11919282;12359339;12477932;12718557;12796507;14530264;14660570;14702039;15052627;15090612;15095869;15165856;15299006;15489334;15819897;16201751;16449996;16510494;16698880;16699195;16797742;17936249;18353768;18794132;19001220;19147491;19568272;20511233;20553503;21171964;21631290;21674044;22025306;22344671;22359545;22577939;22645275;22750003;22896706;23160832;23308092;23591990;23710929;23728617;23835959;24008134;24037220;24296877;24737588;24816917 114757 K7EIM9;K7EMC7;Q8WWM9 AB057769;ABBA01028739;AC015802;AI470692;AJ315162;AK098057;AMYH02034014;AMYH02034015;BC029798;BQ881744;BX647425;CH471099;NG_016702;NM_134268;XM_005257005 AAH29798;BAB87840;BAC05223;CAC86186;EAW89405;EAW89406;NP_599030;Q8WWM9;XP_005257062 Hs.95120 1335368;1688289;1709176 D15S1009;RH94299;SHGC-85751 HGB;STAP histoglobin;stellate cell activation-associated protein APPROVED protein-coding ENSG00000161544 HGNC:16505 06479 608759 VALIDATED 1606903 CYCSP8 cytochrome c, somatic pseudogene 8 2 2 2 q21.1 125039151 125039462 - 131534219 131534530 + 130776646 130776957 + 12909341;23934736 360160 ABBA01019374;AC140481;AF533169;AMYH02004798;NG_002959 HCP8 pseudo HGNC:24423 INFERRED 2859621 CYCTP cytochrome c, testis, pseudogene INTERACTS WITH doxorubicin (ortholog) 2 2 2 q31.2 172560128 172572098 - 178957227 178969197 - 178092500 178104470 - 6480464 12909341;20210993 360163 ABBA01062241;AC011998;AF533170;AMYH02005322;NG_002960;NG_012168 HCP9 pseudo HGNC:24424 INFERRED 1604219 CYCSP7 cytochrome c, somatic pseudogene 7 2 2 2 q11.2 95190807 95191529 - 100986291 100987013 - 100369829 100370551 - 12909341 164837 ABBA01073933;AC012493;AF533168;AMYH02004413;NG_002958 HCP7 pseudo HGNC:24422 INFERRED 1344193 CYHR1 cysteine/histidine-rich 1 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); nuclear envelope (inferred); INTERACTS WITH all-trans-retinoic acid; cadmium atom; copper(2+) sulfate 8 8 8 q24.3 141849696 141865276 - 145675315 145691031 - 144449582 144465678 - 6480464;8554872 10745073;12477932;14702039;21890473;21906983;21963094;21988832;22118674;22863883;24250222;8889548;9455484 50626 E9PJD7;E9PN77;E9PPA8;E9PQ42;Q6ZMK1 AB007965;ABBA01005204;ABBA01005205;AC084125;AK094514;AK160381;AMYH02019006;AMYH02019007;AX119211;BC004544;BC005073;BC056412;BC065484;BM671891;CH471162;NM_001129888;NM_032687;NM_138496;XM_006716560;XM_006716561;XM_006716562 AAH04544;AAH05073;AAH65484;BAD18724;BAG52882;CAC38679;EAW82088;EAW82089;EAW82090;EAW82091;NP_001123360;NP_116076;NP_612505;Q6ZMK1;XP_006716623;XP_006716624;XP_006716625 Hs.459379 1682151;2147113;5037552 D8S2279;RH65026;RH65304 CHRP;KIAA0496;MGC13010 OTTHUMP00000228763;OTTHUMP00000228765;OTTHUMP00000228770;OTTHUMP00000228771;OTTHUMP00000228772;OTTHUMP00000228773;cysteine and histidine rich 1;cysteine and histidine rich protein;cysteine and histidine-rich protein 1 protein-coding ENSG00000187954 HGNC:17806 13107 VALIDATED 1347835 CYMD cystoid macular dystrophy ASSOCIATED WITH Macular Edema (inferred) 7240710 8004098 1541 HGNC:2587 153880 1321175 CYFIP1 cytoplasmic FMR1 interacting protein 1 ENCODES a protein that exhibits protein complex binding; Rac GTPase binding; actin filament binding (ortholog); INVOLVED IN axon extension; cognition; positive regulation of Arp2/3 complex-mediated actin nucleation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; focal adhesion; SCAR complex; INTERACTS WITH 2-methylcholine; cobalt dichloride; cyclosporin A 15 15 15 q11 1376209 1487232 - 22892667 23003603 + 22869465 22980419 - 6480464;8554872 11438699;12477932;14508708;14676191;14702039;15048123;15294869;15489334;16055720;16260607;16344560;16751776;16982806;17519220;18560548;18805096;19524508;20228810;20298200;20811636;21139048;21382349;21875946;21890473;21906983;21963094;21988832;22505724;22797925;22863883;23000965;24163370;24442360;24550385;24722188;24816145;25027693;7584044;9417078;9463375 23191 H0YL50;Q7L576 ABBA01040251;ABBA01040252;ABBA01040253;ABBA01040254;AC011767;AC090764;AC135069;AK024816;AK125784;AK125936;AK127094;AK291604;AL357618;AMYH02030029;AMYH02030030;AMYH02030031;AMYH02030032;AMYH02030033;AMYH02030034;AMYH02030035;AY763577;AY763578;AY763579;AY763580;BC001306;BC005097;BC063869;BF979687;CH471258;D38549;DA317955;KF456021;KJ534819;NM_001033028;NM_001287810;NM_014608;XM_005272543 AAH01306;AAH05097;AAW51476;AAW51477;AAW51478;AAW51479;ABM87438;ABW03890;AHW56459;BAA07552;BAC86825;BAF84293;BAG54247;BAG54268;EAW65555;NP_001028200;NP_001274739;NP_055423;Q7L576;XP_005272600 Hs.26704 1335385;1649132;1659040;1668306;1682143;1685319;1685668;1694760;1707480;1708608;1709450;1730495;1732790;1736506;2176035;2181976;2217232 CYFIP1_3298;D15S1035;D15S1260;D15S18;D15S542;D15S714E;G10722;G43583;HSC15C102;NIB1540;RH1641;RH64908;RH91787;RH94274;SHGC-81768;SHGC-84535;SHGC-85095 FLJ45151;P140SRA-1;SHYC;SRA-1;SRA1 OTTHUMP00000159353;cytoplasmic FMR1-interacting protein 1;cytoplasmic FMRP interacting protein 1;selective hybridizing clone;specifically Rac1-associated protein 1 protein-coding ENSG00000273749 HGNC:13759 05890 606322 VALIDATED 1344761 CYLC2 cylicin, basic protein of sperm head cytoskeleton 2 Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin II may play a role in the morphogenesis of the sperm head. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 76262286 76285463 + 105757593 105780770 + 102995311 103018488 + 1580863;6480464;8554872 12477932;12747772;15164053;15489334;18978678;20677014;20811636;23251661;7737358 1539 Q14093;Q6PEJ5 ABBA01042847;ABBA01042848;AK313349;AL359679;AL449304;AMYH02021362;AMYH02021363;AMYH02021364;BC058038;BC114547;BX097520;CH471105;HC044541;NM_001340;Z46788 AAH58038;AAI14548;BAG36151;CAA86752;CBH30600;EAW58966;EAW58967;EAW58968;NP_001331;Q14093 Hs.3232 1339131;1722731;2130566 D9S277;G60303;SGC35501 MGC129591 OTTHUMP00000215903;OTTHUMP00000215904;cylicin II;cylicin-2;multiple-band polypeptide II APPROVED protein-coding ENSG00000155833 HGNC:2583 04945 604035 REVIEWED 1344324 CYMP chymosin pseudogene 1 1 1 p13.3 109270577 109281081 + 111023388 111033891 + 110480766 110491269 + 6480464 16344560;1812698;2071156;2210384;22610502 643160 ABBA01068393;AK310315;AL358215;AMYH02001726;KF459733;NR_003599 Hs.532720 1689278;1692148 AL033707;RH92129 pseudo ENSG00000240194 HGNC:2588 118943 VALIDATED 1312845 CYFIP2 cytoplasmic FMR1 interacting protein 2 INVOLVED IN activation of cysteine-type endopeptidase activity; apoptotic process; positive regulation of proteolysis; PARTICIPATES IN E-cadherin signaling pathway; platelet-derived growth factor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; membrane; INTERACTS WITH 17beta-estradiol; 2-methylcholine; 5-fluorouracil 5 5 5 q33.3 152719640 152849168 + 156693091 156822606 + 157266081 157395598 + 6480464;6484113;8554872 10449408;10574461;11076863;11230166;11438699;12181570;12477932;12837692;14506234;14676191;15048123;15048733;15294869;15324660;15489334;15489336;15731336;16055720;16381901;16862120;17101133;17245118;18387192;19041431;19056867;19247692;19910030;19946888;19951440;20228810;21139048;21252116;21706016;21890473;21906983;21988832;22268788;22430187;22505724;23125841;23382691;24255178;24550385;24816145;8125298;8605018;9463375 26999 B7Z8N7;E5RKA3;E7EVJ5;E7EW33;F5H583;H7C229;Q96F07 AB032994;ABBA01044271;ABBA01044272;AC008676;AC009185;AC016571;AF132197;AF160973;AK172724;AK223604;AK294220;AK295865;AK297401;AK303702;AK312157;AL136549;AL161999;AL559919;AMYH02012550;AMYH02012551;BC011762;BC021008;BC026892;BC066933;BG257432;BG699081;CH471062;KF459628;KF510898;L47738;NM_001037332;NM_001037333;NM_001291721;NM_001291722;NM_014376 AAA79022;AAD45723;AAG35543;AAH11762;ABM84454;ABM87614;BAA86482;BAD97324;BAG35091;BAH11703;BAH12208;BAH12569;BAH14023;CAB66484;CAB82329;CAL38237;CAL38299;EAW61603;EAW61604;EAW61605;EAW61606;NP_001032409;NP_001032410;NP_001278650;NP_001278651;NP_055191;Q96F07 Hs.519702 1701532;1715943;1718863;1719019;1742769;1765399;1766543;1772417;1776897;1785634;1855533;2134549;2161402;2162669;2180123;5094938 A006W02;CYFIP2;GDB:204180;L31454;RH104399;RH122707;RH123135;RH123216;RH15890;RH18378;RH45525;SHGC-148883;SHGC-149861;SHGC-156113;STS-M62008;WIAF-2159 PIR121 CYFIP2 {ECO:0000312|EMBL:AAH11762.1};OTTHUMP00000224059;OTTHUMP00000224063;cytoplasmic FMR1-interacting protein 2;p53 inducible protein;p53-inducible protein 121 protein-coding ENSG00000055163 HGNC:13760 07556 606323 VALIDATED 1350080 CYorf15B chromosome Y open reading frame 15B INTERACTS WITH arsenite(3-); benzo[a]pyrene; methyl methanesulfonate Y Y q11.222 6005844 6015100 - 21758442 21767698 + 6480464 12477932;12815422;16344560;17213182 84663 Q8N4A2 AC009977;AC010889;AF332225;AL832583;BC035312;CH471202;DB132733;DT220167;NM_032576 AAH35312;AAK13477;CAD89940;EAW54665;NP_115965;Q8N4A2;Q9BZA4 Hs.592254 2188849;2189055;2189065;5095191;5095193;5095195;5095197 CYorf15B-1;CYorf15B-2;CYorf15B-3;CYorf15B-4;G65858;G65914;G65919 OTTHUMP00000034663;lipopolysaccaride-specific response 5-like protein protein-coding HGNC:18577 15961 VALIDATED 70835 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 8 8 8 q21 140263402 140270865 - 143953773 143961236 - 142872357 142879820 - 1300048;1580863;1600799;69709;734864;4145630;4891156;4889549;4891147;4891170;4891155;6480464;6907045;7240710;8554872;8699517 12457455;1430088;15583024;1731223;19349910;19837774;19923365;7981756;8964882 10391209;10391210;10411633;10599751;11095433;11549669;11549691;11675945;11903322;11932209;12452430;12477932;1303253;14682466;14702039;15026188;15062555;15128046;1518866;15324322;15507509;15522937;15699546;15751602;15755848;15793791;16030166;16110193;16114325;16396990;16984984;17075029;17121536;17296872;1741400;17556864;17651452;17980006;18215163;18294861;18397978;18636124;18661760;18663314;18974272;19082699;19336370;19342457;19453261;19567537;19598235;19820005;19844114;19913121;20089618;20214802;2022736;20331679;20339375;20486282;20523022;20529578;20628086;20634641;20708777;20808686;20877624;20947076;21164264;21625068;21848792;22083159;22217843;2256920;22921894;22964742;23146819;23150505;23345044;23825130;2401360;24536089;2592361;3499608;7903314;8372604;8506298;9302260 1584 H0YBR4;P15538;Q4VAR0;Q8TDD0 ABBA01005284;AC083841;AF478474;AJ431380;AJ431381;AJ431382;AK094090;AMYH02018928;BC096285;BC096286;BC096287;BX647738;CH471162;D10169;D16153;D16155;EU332839;M24667;M32863;M32879;NG_007954;NM_000497;NM_001026213;X55764;XM_005250807 AAA52148;AAA52149;AAH96285;AAH96286;AAH96287;AAL84813;ABY87528;BAA01039;BAA03717;BAB71992;BAC04283;CAA39290;CAD24088;CAD24089;CAD24090;EAW82293;EAW82294;EAW82295;NP_000488;NP_001021384;P15538;XP_005250864 Hs.184927 1677130;1794862;1797458;2176832 CYP11B1_2340;PMC60851P1;RH80276;STS-M32879 CPN1;CYP11B;DKFZp686B05283;FHI;FLJ36771;P450C11 CYPXIB1;OTTHUMP00000227075;OTTHUMP00000227076;OTTHUMP00000227176;cytochrome P-450c11;cytochrome P450 11B1, mitochondrial;cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1;cytochrome P450C11;cytochrome p450 XIB1;steroid 11-beta-hydroxylase;steroid 11-beta-monooxygenase APPROVED protein-coding ENSG00000160882 HGNC:2591 01943 103900;202010;610613 REVIEWED 735631 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008] 15 15 15 q23-q24 51578744 51607311 - 74630103 74660081 - 74337762 74369579 - 1580863;1599699;1599701;1599693;1599696;1599698;4785271;4832477;4833436;4889107;4889134;2325883;4145630;4892309;6480464;4145530;6907045;7240710;8699517;8554872 12161514;16116051;16329132;16574160;16632873;16780839;17880366;17881205;17926129;18353182;18481435;18821018;19349910;20826654 10391209;10411633;10416690;10644752;10856721;11008920;11062177;11137199;11238527;11502818;11535251;11701663;11864972;11997174;12101186;12137805;12145340;12242026;12385014;12477932;12517592;12530663;12530676;1429635;14644808;14702039;15054879;15126571;15128046;15159300;15231748;15323426;15471945;15489334;15583024;15613430;15793791;15927889;16103457;16116976;16172228;16195240;16344560;16391898;16409859;16764871;16798289;17065579;17110639;17178901;17507624;17575134;17594537;17615053;18004979;18182448;18191841;18307388;18368131;18437511;18483327;18490834;1849407;18499961;18505908;1863359;18665078;18725155;18992638;19064571;19116240;1917982;19197249;19240061;19300392;19336370;19342447;19453261;19543524;19574343;19598235;19846611;20066577;20199803;20200332;20214802;20381444;20450755;20634197;20734064;20877624;21159840;21164259;21195129;21391350;21520051;21557918;21636783;21771722;21880796;22199361;22227097;22585829;22673022;22699877;22877869;23158025;23330251;23337730;23555723;23756599;2419119;24244276;3024157;3038854;8125298;8372604;9029710;9147642;9498238;9685215 1583 C9JPU9;C9JXV4;E7EPP8;H3BS93;H3BSZ1;P05108 ABBA01060486;ABBA01060487;ABBA01060488;AC090826;AI149078;AK056794;AK225715;AK292300;AK292301;AK293204;AK293211;AK300178;AK310362;AMYH02030789;AY603498;BC032329;BX398579;CH471136;DA010417;DQ358147;M14565;M28253;NG_007973;NM_000781;NM_001099773;X05367;X14257;XM_006720404;XM_006720405 AAA36404;AAA52162;AAH32329;ABC86898;ABM82504;ABM85697;BAF84989;BAF84990;BAG51810;BAG56744;BAG56751;BAG61957;CAA28965;CAA32471;EAW99341;EAW99342;NP_000772;NP_001093243;P05108;XP_006720467;XP_006720468 Hs.303980 1732461;1790331;1794606;2148835;2160881;2164343;2177587;2177816;2217234 CYP11A1_2780;CYP1A1;D15S1235;D15S1319;D15S520;PMC327197P2;SHGC-56724;STS-M14565;STS-R66092 CYP11A;CYPXIA1;P450SCC OTTHUMP00000198332;OTTHUMP00000198333;OTTHUMP00000198335;cholesterol 20-22 desmolase;cholesterol desmolase;cholesterol monooxygenase (side-chain cleaving);cholesterol monooxygenase (side-chain-cleaving);cholesterol side-chain cleavage enzyme, mitochondrial;cytochrome P450 11A1;cytochrome P450(scc);cytochrome P450, subfamily XIA (cholesterol side chain cleavage);cytochrome P450C11A1;cytochrome p450, subfamily 11a;steroid 20-22-lyase APPROVED protein-coding ENSG00000140459 HGNC:2590 00326 118485;613743 REVIEWED 1348149 CYLC1 cylicin, basic protein of sperm head cytoskeleton 1 This gene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] X X X q21.1 83353564 83379026 + 83116134 83141708 + 83861126 83886700 + 1580863;6480464;8554872 12477932;12509440;15489334;15772651;19679225;7737358;8354692 1538 P35663;Q6PEK4 ABBA01041621;ABBA01041622;ABBA01041623;ABBA01041624;ABBA01051502;ABBA01051503;AL354653;AL627233;AMYH02039879;BC021669;BC038787;BC058019;BC070355;BC126461;BX110674;DB028115;DB049397;HC006894;HC044615;NM_001271680;NM_021118;XM_005262086;Z22780 AAH38787;AAH58019;AAH70355;AAI26462;ADR83231;CAA80457;CBH19252;CBH30637;NP_001258609;NP_066941;P35663;XP_005262143 Hs.444230 1701780;7183963 DXS6946E CYCL1 OTTHUMP00000023617;cylicin 1;cylicin I;cylicin-1;multiple-band polypeptide I protein-coding ENSG00000183035 HGNC:2582 300768 REVIEWED 1319183 CYLD cylindromatosis (turban tumor syndrome) This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 16 16 16 q12.1 35291289 35351164 + 50775961 50835847 + 50742050 50801936 + 1601033;6480464;6484113;6907045;7240710;7800734;7800735;8554872;8699517 10835629;21119682;23312890 10048485;10480375;10792569;11042152;12168954;12477932;12917689;12917690;12917691;14632188;14676304;14702039;15086550;15226292;15289313;15341735;15489334;15496400;15870263;16135788;16230348;16344560;16350444;16500080;16501569;16627981;16713561;16774947;17081983;17148452;17495026;17606441;17608805;17609426;17662085;17851586;17875891;17925880;17981138;18222923;18234730;18242958;18245814;18313383;18332137;18363762;18497946;18636086;18977328;19076795;19201866;19373254;19462465;19481526;19615732;19800320;19807742;19893491;19911186;19913121;19917957;19951577;20151946;20227366;20347313;20414373;20502185;20593489;20607853;20622874;20628086;20797623;20832754;20838385;20854080;20972631;21139048;21389835;21408173;21420166;21478324;21498625;21552290;21577203;21605102;21718647;21900959;21931648;21988832;22017589;22019778;22037414;22049921;22057290;22077640;22157808;22297296;22362744;22412388;22469839;22491319;22504420;22505724;22689134;22832488;22848449;22895009;22990857;23000965;23002441;23171463;23300340;23404581;23405219;23453969;23567228;23575688;23584127;23641715;23694822;23832602;23861985;24092863;24104553;24255178;24261740;24398777;24461064;24469800;24867235;7493027;8125298;8649842 1540 H3BPZ5;H3BS09;H3BSW9;H3BTB8;I3L117;J3KRR7;J3QKR2;Q9NQC7 ABBA01000864;ABBA01000865;ABBA01000866;AC007728;AF161542;AJ250014;AK000187;AK024212;AK024348;AK056226;AK225202;AK292975;AK310832;AL050166;AMYH02032016;AMYH02032017;BC012342;BI458962;BX642061;CH471092;CQ834224;DA157717;DA785459;DA940312;DB119480;FN823255;NG_012061;NM_001042355;NM_001042412;NM_015247;XM_005255812;XM_006721148;XM_006721149;XM_006721150;XM_006721151;XM_006721152;XR_429714 AAF29029;AAH12342;BAF85664;BAG51271;BAG51293;CAB93533;CAH05327;CBL94217;EAW82768;EAW82769;EAW82770;EAW82771;EAW82772;EAW82773;NP_001035814;NP_001035877;NP_056062;Q9NQC7;XP_005255869;XP_006721211;XP_006721212;XP_006721213;XP_006721214;XP_006721215 Hs.578973 1336553;1339194;1675599;1683345;1688316;1695764;1738479;1789432;1789438;2110351;2118515;2122880;2178786;2182261;5014023;7186523 CYLD__4662;D13S1553;D16S2680;D16S308;D16S503;D16S514;G67953;G67954;RH48312;RH64884;RH92056;RH94254;SGC32374;SHGC-60837;SHGC-78760 BRSS;CDMT;CYLD1;EAC;FLJ20180;FLJ31664;FLJ78684;HSPC057;KIAA0849;MFT;MFT1;SBS;TEM;USPL2 CYLDI;deubiquitinating enzyme CYLD;probable ubiquitin carboxyl-terminal hydrolase CYLD;ubiquitin carboxyl-terminal hydrolase CYLD;ubiquitin specific peptidase like 2;ubiquitin thioesterase CYLD;ubiquitin thiolesterase CYLD;ubiquitin-specific-processing protease CYLD APPROVED protein-coding ENSG00000083799 HGNC:2584 05427 132700;601606;605018;605041 REVIEWED 1346128 CYP17A1-AS1 CYP17A1 antisense RNA 1 10 q24.32 104590493 104594273 + 414269 AL358790;XR_132782;XR_132947;XR_171867 Hs.728936 CYP17A1OS;bA753C18.3 cytochrome P450, family 17, subfamily A, polypeptide 1 opposite strand APPROVED ncrna HGNC:31671 736494 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008] 8 8 8 q21-q22 140301421 140308694 - 143991975 143999259 - 142910559 142917843 - 1576426;1576427;1576428;1576429;727991;1300048;1580863;1600824;2307288;2307309;2307295;2307306;2307308;2307297;2307307;2307289;2307294;2307303;2307304;4891151;4891156;4891162;4891377;4891170;4891147;4891150;4891416;4889549;4891152;4891155;6480464;6907045;7240710;8554872;8699517 10024332;11113012;11275936;11687612;11832364;12031704;12457455;15364804;15522937;15569322;15583024;15894891;15939810;1594605;16495212;16672053;16938653;17261471;1731223;18154949;18495825;18582458;18689429;18771471;19571523;19837774;19923365;9494027 10371693;10391209;10391210;10411633;10902803;11076863;11116113;11238478;11245725;11288810;11325068;11422106;11422735;11447495;11518842;11587161;11696658;11696688;11711521;11711524;11725161;11728005;11728946;11841224;11856349;11903322;11910301;11923700;11932209;11967817;12022239;12065207;12107246;12133420;12137808;12161536;12172317;12193581;12195120;12205735;12213905;12376254;12391843;12444540;12446192;12446468;12477932;12544440;12544508;12611423;12624609;12627873;12746403;12783697;12788845;12788848;12817181;12832734;1303253;1346492;14508191;14530292;14614232;14643573;14704730;14736447;15055249;15062555;15097233;15102677;15128046;15135254;1518866;15223724;15230231;15238568;15272911;15361760;15378162;15479186;15505931;15507509;15532370;15545843;15573760;15583997;15600184;15611122;15614025;15643128;15662219;15699546;15824464;15882548;15894890;15914614;16078594;16080804;16080805;16110193;16126185;16207322;16208140;16303227;16396990;16468060;16485730;16580565;16615274;16638864;16714246;16759311;16765146;16767667;16780672;16796847;16893516;16979018;16984984;17003099;17075029;17143166;17190732;17273158;17296872;17318792;17334527;17334644;17383306;17407071;1741400;17519002;17531119;17546276;17631084;17633457;17651452;17664852;17698557;1775135;17762647;17851694;17980006;17984617;17987391;18192839;18202594;18260840;18260994;18397978;18413308;18446309;18636124;18638595;18660489;18710464;18773126;18855530;18856058;18974272;19026620;19093739;19112833;19116236;19117407;19151144;19158234;19166692;19243623;19253715;19254215;19262476;19332265;19342457;19343046;19407459;19418629;19609286;19729965;19776632;19779464;19786005;19820005;19853701;19913121;19948975;19956635;20094057;20097716;20123934;20176774;20182453;20193236;20193392;20214802;20224556;20300066;20339375;20381197;20413672;20416077;20486282;20494601;20535141;20537417;20560800;20598712;20628086;20634641;20659024;20662731;20708777;20808686;20831027;20877624;20878543;20966514;21092623;21106862;21125974;21127960;21163122;21164264;21228735;21239432;21269059;21357309;21476902;21625068;21682760;21777344;21846681;22083159;22134143;22156739;22217843;22311496;22331364;22508051;2256920;22652909;22801770;22885098;23023242;23133610;23135028;23150505;23209837;23257735;23275203;23322723;23443813;23479071;23490082;23535359;23701507;23936266;23950878;24015270;24423307;2592361;3872685;7792802;8372604;8439335;8954040;9177280;9360501;9506770;9625333;9703385;9814506;9838244;9931115 1585 P19099;Q16316 ABBA01005284;AC073385;AMYH02018928;CH471162;D10170;D13752;EU326306;M32881;NG_008374;NM_000498;S77397;S77409;X54741 AAA35741;AAB34642;AAB34643;AAI11459;ACA05912;BAA01040;BAA02899;CAA38539;EAW82292;NP_000489;P19099 Hs.632054 1694508;1745753;1794862;1797458;1797460;2137853;2154712;2176832 CYP11B1_2340;CYP11B2_1990;GDB:635986;PMC60851P1;RH121974;RH18106;RH79160;STS-M32879 CPN2;CYP11B;CYP11BL;CYPXIB2;P-450C18;P450C18;P450aldo ALDOS;OTTHUMP00000217871;aldosterone synthase;aldosterone-synthesizing enzyme;cytochrome P-450Aldo;cytochrome P-450C18;cytochrome P450 11B2, mitochondrial;cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2;cytochrome p450, subfamily 11b, polypeptide 2;mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2;steroid 11-beta-monooxygenase;steroid 11-beta/18-hydroxylase;steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo APPROVED protein-coding ENSG00000179142 HGNC:2592 00492 124080;203400;610600 REVIEWED 1350540 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008] 10 10 10 q24.3 98331010 98337873 - 104590288 104597290 - 102830531 102837533 - 1580863;1625350;2317618;2317619;4888511;4889112;4889142;4889141;2325883;4846627;4892309;6480464;6907045;7240710;8554872 11739466;12631398;16381022;17002564;17720801;17926129;18645193;18821018;19642097;2026124 10406467;10720067;11036113;11059764;11094312;11142420;11145739;11212283;11221867;11232039;11248649;11303586;11341336;11358812;11379008;11440959;11470993;11535545;11549685;11571725;11668516;11749050;11834432;11836339;11839369;11847524;11867265;11880540;11888844;11895872;11897684;11911969;11925378;11956159;12036913;12036914;12164325;12368392;12370109;12385014;12444089;12446594;12464252;12466376;12477932;12506119;12517592;12530262;12530647;12530662;12530676;12574216;12582021;12584742;12602902;12631293;12644832;12645864;12652520;12692107;12718576;12719950;12949806;12954495;12971967;1347802;14504283;14512432;14552332;14552333;14561815;14575568;14634838;14644808;14665706;14671162;14684846;14693733;14702039;14714492;14715870;14744739;1478654;14985252;14995917;15072828;15128046;15129369;1515452;15164054;15195127;15199113;15235815;15241822;15341023;15364798;15372520;15382051;15466495;15477877;15482786;15489334;15536258;15538743;15539439;15555906;15583024;15591802;15598676;15604994;15609124;15654505;15663233;15686129;15687493;15706422;15711606;15749482;15761247;15774541;1577471;15799583;15823822;15824149;15865082;15878919;15886251;15916684;15927351;15941966;15953542;15987450;15987458;15999490;16045239;16202920;16214922;1621662;16232327;16244490;16260521;16280037;16306078;16319265;16344560;16354159;16385451;16411751;16424004;16515644;16519145;16527884;16595228;16595705;16603433;16604478;16608396;16616104;16638864;1665206;16702327;16707883;16716118;16720291;16730930;16739881;16782804;16783967;16850246;16859836;16875543;16885156;16887917;16890174;16896040;16909599;16969494;16971197;16977255;17077994;17108148;17110639;17119038;1714904;17167982;17218734;17235448;17307805;17328668;17359589;17386955;1740503;17484509;17507624;17588204;17589376;17606708;17615053;17664281;17669147;17704407;17760252;17765230;17785571;17786540;17826473;17875358;17895316;17961073;17975119;17986287;18000308;18006912;18163429;18172694;18184656;18187541;18262808;18281250;18299473;18305346;18318428;18411914;18415690;18422032;18437511;18483327;18491956;18495332;18496127;18499961;18501301;18503826;18505908;18510611;18560445;18593984;18601603;18618215;18619494;18629629;18636124;18636181;18645709;18676680;18682255;18707589;18722876;18725155;18767927;18781485;18820009;18930188;18957719;18980759;19013303;19015200;19023099;19064572;19064581;19127255;19170196;19174490;19267349;19330259;19336370;19379515;19387820;19415745;19430479;19430483;19443382;19453261;19454579;19469636;19505920;19508587;19574343;19598235;19625176;19627379;19636199;1964490;19672705;19692168;19789190;19805543;19850690;19863350;19913121;19915575;19954068;19956635;20013047;20033766;20043206;20043997;20069306;20072949;20086173;20099974;20113968;20133979;20171624;20173016;20184498;20193327;20197673;20200332;20207836;20214802;20379614;20381444;20414254;20432167;20453000;20479155;20503394;20534731;20539301;20595043;20619364;20628086;20628746;20634197;20650774;20677014;20716560;20720262;20728566;20729390;20729792;20734064;20798986;20852445;20884100;20886547;21045733;21094112;21193363;21300759;21307141;21338212;21378990;21420394;21511288;21572416;21644229;21656827;21676446;21848792;21868758;21896988;21909110;21909115;21919858;21948762;21963141;21966534;21988832;22001566;22048715;22057025;22066265;22071413;22072737;22103881;22174412;22217842;22237020;22238371;22266943;22309630;22331461;22419734;22434081;22456087;22528335;22653668;22714708;22873692;22951291;22954317;22959498;23015357;23036723;23129512;23133444;23229009;23257735;23291414;23350368;2335573;23467202;23535732;23551929;23586722;23609033;23620596;23621184;23649771;23775394;23809139;23836902;23888338;23974872;24001895;24014605;24140098;24140493;24244276;24262325;24299954;24430361;24485502;24629213;2466376;24687554;2786493;2808364;2843762;3025870;3274893;3488328;3500022;6976525;7629254;8027220;8245018;8345056;8396144;8550762;8675607;8855840;9177409;9326943;9360545;9435441;9601054;9888582 1586 P05093;Q1HB44 ABBA01063132;AI492406;AK094106;AK289898;AK308466;AK312235;AL358790;AMYH02023711;AMYH02023712;BC032843;BC062997;BC063388;BT020000;CH471066;DA013587;DA016804;DQ530598;EU332845;M14564;M19489;M31153;M63871;NG_007955;NM_000102 AAA36405;AAA52140;AAA52151;AAA59984;AAH62997;AAH63388;AAV38803;ABF50972;ABY87534;BAF82587;BAG35168;EAW49672;NP_000093;P05093 Hs.438016 1688332;1742227;1776279;2190823;2217236 CYP17;CYP17A1_2934;GDB:193859;RH17665;RH80310 CPT7;CYP17;P450C17;S17AH 17-alpha-hydroxyprogesterone aldolase;CYPXVII;OTTHUMP00000020382;cytochrome P450 17A1;cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia;cytochrome P450-C17;cytochrome P450c17;cytochrome p450 XVIIA1;steroid 17-alpha-hydroxylase/17,20 lyase;steroid 17-alpha-monooxygenase APPROVED protein-coding ENSG00000148795 HGNC:2593 01944 202110;609300 REVIEWED 5144332 CYP1D1P cytochrome P450, family 1, subfamily D, polypeptide 1, pseudogene 9 9 9 q21.13 46230429 46244122 + 75657553 75671513 + 73042637 73056597 + 20495808 100133307 ABBA01033867;AL359997;AMYH02020984;NG_023158 1706838;1764265 SHGC-147885;SHGC-80901 CYP1A8P;CYP1D1 pseudo HGNC:39968 INFERRED 735711 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008] 15 15 15 q24.1 51991217 51998975 + 75041184 75048941 + 74748843 74756600 + 1358545;727649;1300048;1580863;2301045;2303375;2303376;4293707;5129544;5147745;6480464;4892242;6907361;6907045;7240710;7257735;7257727;8699517;8554872 10889552;12971802;15665729;18360687;18442205;18495746;18497059;20080081;20595028;22170007;23981375;2985574 10463577;10493258;10791558;11153915;11186132;11207026;11275366;11393588;11470995;11496364;11501059;11507974;11511187;11749050;11763009;11782366;11791895;11817502;11943609;12067576;12147246;12181774;12419832;12445029;12445035;12477932;12484238;12534642;12566081;12569554;12618594;12630986;12663508;12692107;12732846;12790158;12851801;12900870;12920202;12925300;12943470;14563787;14640293;14648207;14695651;14714565;14723376;14976127;15039299;15110095;15128046;15241822;15299091;15319333;15327587;15349722;15363478;15382051;15387446;15466009;15469410;15489334;15505641;15519301;15564895;15643613;15680923;15734958;15763632;15770072;15774926;15849225;15890241;15901993;15941966;15949157;15987714;15996939;16006997;16048566;16103451;16130011;16153396;16157215;16172230;16188490;16204462;16307269;16324277;16385402;16401082;16402077;16402549;16406813;16426572;16471212;16495781;16505155;16522833;16538170;16538176;16609368;16636061;16740387;16772608;16775389;16782969;16800822;16864595;16882880;16933202;16969362;16985026;16985250;17065585;17164366;17178267;17191090;17259654;17295924;17311915;17345072;17363580;17370067;17372239;17418993;17429315;17477782;17498780;17503978;17507615;17507624;17509724;17564586;17603224;17603900;17611010;17615053;17616786;17627011;17635176;17688403;17695473;17823232;17823234;17852022;17900275;18052847;18075470;18077912;18159984;18180754;18187423;18200441;18223460;18231117;18268115;18318428;18356043;18389617;18398030;18455494;18466106;18490497;18493746;18496682;18499698;18510611;18544563;18551037;18569587;18619574;18628519;18632753;18690546;18703023;18751408;18759349;18784359;18798002;18801337;18813311;18825963;18840375;18850169;18936436;18941913;18990750;18992148;18996102;19000940;19026171;19029318;19095219;19106084;19219744;19229255;19273964;19274061;19276377;19285097;19290787;19307236;19332078;19336370;19338043;19339270;19343046;19356113;19414633;19415745;19424794;19430483;19442564;19450128;19451835;19452301;19453261;19479063;19507017;19534587;19569730;19571439;19574343;19575027;19576320;19583676;19593158;19593168;19605743;19636338;19643819;19651758;19666078;19682433;19692168;19751749;19776291;19789190;19806921;19822571;19823875;19843669;19860743;19913121;19926050;19956635;19961320;20029944;20043572;20047124;20054636;20118554;20125119;20131310;20136364;20147896;20163457;20173083;20175915;20213484;20214802;20218903;20304699;20375710;20381444;20389299;20390257;20403997;20437850;20453000;20505544;20529763;20559687;20583967;20602612;20602615;20628086;20634197;20634891;20641098;20652353;20656072;20663043;20691427;20701904;20734064;20797314;20806393;20829355;20853468;20881513;20930417;20933493;20957336;20970553;21071160;21072184;21081473;21086794;21148426;21210738;21262253;21281405;21329464;21357676;21480221;21490707;21505853;21598960;21825116;21876539;21929532;21977969;22072123;22086975;22141270;22228482;22246422;22258279;22336631;22426036;22448362;22466345;22492992;22628494;22648710;22673010;22749033;22785257;22823064;22854411;22855999;22948892;22949628;23081704;23128882;23133610;23138776;23157985;23167834;23278694;23292087;23353840;23462460;23492908;23492909;23601795;23603339;23628800;23859573;23876819;23949201;23951174;24099317;24293373;24318358;24340040;24443269;24514875;24926919;2575218;2813353;3000715;3462722;3517618;3681487;3755823;8095225;8287062;8553685;8573198;8694864;9398194;9598815;9797707;9884316;9890157 1544 P05177;Q6NWU3 ABBA01060501;AC091230;AF182274;AF253322;AMYH02030798;BC067424;BC067425;BC067426;BC067427;BC067428;BC067429;CH471136;DQ022432;KF459683;L00389;M12078;M31664;M31667;M55053;NG_008431;NM_000761;Z00036 AAA35738;AAA52146;AAA52154;AAA52163;AAF13599;AAH67424;AAH67425;AAH67426;AAH67427;AAH67428;AAH67429;AAK25728;AAY26399;CAA77335;EAW99313;NP_000752;P05177 Hs.1361 1777400;1850873;2115873;5016596;5024756;5037552 D8S2279;G10504;GDB:631802;RH80030;SGC35304;STS-M31667 CP12;CYPIA2;P3-450;P450(PA) P450 form 4;aryl hydrocarbon hydroxylase;cytochrome P(3)450;cytochrome P450 1A2;cytochrome P450 4;cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2;cytochrome P450-P3;cytochrome p450, 1a2;dioxin-inducible P3-450;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000140505 HGNC:2596 00489 124060 REVIEWED 1606587 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 15 15 15 q21.1 28393650 28524194 - 51500254 51630795 - 51208057 51338598 - 1625350;2301045;2301046;4889108;2325883;4890368;1600860;4890041;4761326;4890381;4890359;4889549;4890445;5130880;6480464;6907045;7240710;7257710;7257718;7257717;7257713;7257715;7257707;1600861;7257709;7244372;7257716;7257708;7257711;7257712;7257719;7257726;8554872;8699517 12050560;15583024;16875543;16882736;17002564;17118999;17406000;18180323;18497059;18695261;18821018;19228890;19700748;20018485;20149258;20428845;20662593;21114983;21282199;21356374;22301628;23183180;23395555;23406865;23552495;23598873;23643682;7053713;8550748 10566648;10837748;11076863;11140838;11181459;11216915;11232039;11256614;11344237;11469726;11571725;11595700;11756225;11826265;11850203;11850205;11850206;11850208;11850209;11850210;11850219;11850220;11850221;11850222;11850224;11850225;11850230;11850233;11850235;11897504;11903314;11904449;11925378;11927588;11935306;11997208;12036913;12053085;12154211;12160997;12161013;12161505;12164325;12204674;12213901;12351690;12370109;12385014;12428207;12451990;12462076;12462077;12466340;12477932;12489562;12517592;12592380;12602902;12606587;12618873;12620480;12639945;12690088;12705475;12720534;12734209;12736278;12759877;12768436;12788892;12839940;12843146;12846271;12864794;12914527;12917334;12944421;1371509;14508827;14517714;14580722;14593077;14602139;14631363;14634838;14714492;14715870;1472013;14744739;14747179;14973387;14981949;14990865;15046111;15072827;15072828;15074077;15079018;15083376;15083377;15083380;15083381;15126575;15128046;15132727;15177662;15181061;15183689;15199113;15207764;15229337;15241822;15298966;15319333;15330195;15358790;15364411;15449726;15489336;15582747;15613678;15640252;15668497;15677755;15688015;15695318;15748828;15774541;15788666;15794932;15800924;15802318;15840311;15862960;15862961;15862962;15955695;16019206;16020944;16024248;16039845;16045239;16086586;16103457;16128984;16146740;16199862;16202920;16213843;16232327;16244490;16251630;16251760;16260521;16269961;16287071;16302261;16303757;16306085;16322405;16344016;16344560;16381901;16392624;16395678;16402077;16406421;16418790;16424004;16426763;16467490;16473000;16498360;16498361;16498363;16498364;16541304;16556483;16566930;16595205;16604491;16608396;16621515;16634644;16641167;16648498;16684355;16691199;16723309;16730930;16733710;16739881;16741831;16767510;16782804;16793950;16798289;16850246;16894362;16895991;16896040;16930994;16949385;16949391;16964243;16977255;16997132;17004113;17065579;17066438;17119036;17158756;17167982;17176215;17187946;17216495;17219197;1724289;17325027;17331471;17336977;17359589;17372263;17391072;17400043;17404019;17405842;17415442;17482958;17507620;17507624;17517397;17562079;17574328;17584767;17588204;17589376;17595315;17615053;17646720;17657731;17661084;17662285;17678915;17681675;17682677;17687621;17704407;17766065;17827443;17893373;17953943;17962916;17975727;17979523;17989043;17989068;18030614;18048499;18049890;18083712;18086758;18157729;18159088;18163429;18181018;18182446;18199708;18201819;18245543;1825497;18274619;18281655;18299793;18305346;18426832;18437511;18445666;18467089;18483177;18483761;18491956;18501301;18505907;18510611;18512790;18559914;18568448;18593984;18595017;18601603;18614276;18614591;18617186;18622258;18629629;18636124;18667686;18676680;18767927;18817841;18818748;18820009;18822378;18847535;18930188;18941892;18941913;18955734;18962445;18980759;19015200;19019335;19022561;19064562;19064572;19064581;19083124;19093296;19107851;19116238;19124504;19124506;19129847;19137777;19152063;19158807;19159688;19170196;19172223;19174490;19185610;19194457;19240151;19282383;19299445;19324338;19340622;19366906;19389254;19415745;19419293;19438456;19445691;19453261;19469636;19470632;19478482;19491387;19493871;19500729;19505920;19514368;19527514;19549443;19551860;19555469;19556341;19558171;19570444;19573564;19574343;19589174;19591804;19598235;19604497;19625176;19630952;19639193;19692168;19776291;19782135;19789370;19800002;19800101;19805543;19808095;19815003;19818337;19879925;19883757;19896534;19906189;19906814;19913121;19921206;19933466;19952760;19956635;19969081;20004389;20015405;20026603;20030115;20048079;20052540;20053928;20060879;20064870;20072949;20133979;20140262;20144226;20148360;20164038;20164294;20173016;20184498;20186154;20189936;20193327;20200332;20211687;20214802;20231365;20300828;20305046;20346360;20351196;20381444;20385561;2040633;20417295;20430378;20432167;20453000;20505544;20526739;20539301;20546829;20586553;20588246;20588308;20628086;20628746;20634197;20655525;20668023;20688833;20716560;20729390;20734064;20797716;20819792;20881004;20881960;20932310;20937744;20960227;21125383;21154336;21170323;21188138;21198743;21217768;21251330;21269619;21296134;21300759;21319151;21319995;21320735;21377485;21392518;21392519;21392520;21414724;21479914;21511357;21622727;21676395;2171939;21757507;21771722;21807013;21939764;21948762;21952832;21972004;22057025;22079757;22089263;22104650;22106445;22119029;22130322;22160249;22185650;22217837;22237979;22300440;22315456;22320986;22331461;22335023;22384274;22407818;22426781;22448795;22492871;22508516;22511967;22576212;22578533;22633539;22634420;22638611;22675492;22731640;22759564;22773874;22843875;22848710;22887836;22889864;22902617;22915343;22982181;23001776;23029457;23085504;23090135;23093430;23110082;23116507;23122578;23129173;23178495;23229009;23239821;23252370;23253631;23340254;23342035;23350368;23400010;23438603;23456168;23461365;23518928;23540392;23584792;23599027;23625281;23635391;23660593;23661022;23669293;23700878;23727336;23729401;23747729;23748068;23809139;23846226;23873111;23893151;23932299;24037887;24049095;24064691;24065098;24157654;24285681;24324964;24347287;24411031;24430361;24485503;24654751;24836190;2541021;2691883;2808431;2848247;2973313;3018730;3390233;3653507;3964273;7690033;8090165;8117272;8265607;8477708;8530621;9177373;9211678;9696881 1588 A8K6W3;E7EPL6;E7EQ08;E9PGZ6;H0YK57;H0YKN1;H0YLP1;H0YLS2;H0YNJ7;P11511;Q05CU4;Q8IYG4;Q8TCA4 ABBA01039085;ABBA01039086;ABBA01039087;AC012169;AC020891;AK291778;AMYH02030429;AMYH02030430;AY957953;BC020767;BC022896;BC035714;BC035959;BC056258;BC107785;BG621764;BQ024157;CH471082;D14473;DA853862;DQ118405;J04127;M18856;M22246;M28420;M30804;NG_007982;NM_000103;NM_031226;S52789;S85356;X13589;XM_005254190;XM_005254191;XM_005254192;XM_006720406;Y07508 AAA35556;AAA35557;AAA35728;AAA52132;AAA52141;AAB21520;AAH20767;AAH22896;AAH35714;AAH35959;AAH56258;AAI07786;AAX44046;AAZ23558;BAF84467;CAA31929;CAA68807;CAL37411;CAL38062;EAW77413;EAW77414;EAW77415;EAW77416;NP_000094;NP_112503;P11511;XP_005254247;XP_005254248;XP_005254249;XP_006720469 Hs.260074 1646305;1652501;1657853;1661634;1668478;1676578;1677090;1684218;1688961;1712248;1716227;1726591;1742871;1754033;1757101;1761287;1767311;1771737;1778412;1780346;1780348;1780350;1780352;1780354;1780356;1780358;1780360;1780362;1780364;1780366;1780368;1780370;1787960;1853145;1857218;1857923;2119213;2119215;2123527;2127688;2132378;2139348;2151533;2156862;2185121;5492117;7185345 A004G01;CYP19-3;D15S1206;D15S1265;D18S1229;G54032;G62528;G67126;G67127;G67128;G67129;G67130;G67131;G67132;G67133;G67134;G67135;G67136;G67137;G67138;G67172;GDB:212661;L77297;RH121140;RH15683;RH17833;RH17900;RH44625;RH48681;RH68609;RH69825;RH77814;RH77832;RH92302;RH93865;RH98549;SGC35215;SHGC-132074;SHGC-144488;SHGC-145291;SHGC-34077;SHGC-34187;STS-T49215;STS-T97650;WI-11891;WI-2834 ARO;ARO1;CPV1;CYAR;CYP19;MGC104309;P-450AROM CYPXIX;OTTHUMP00000162543;OTTHUMP00000198350;aromatase;cytochrome P-450AROM;cytochrome P450 19A1;cytochrome P450, subfamily XIX (aromatization of androgens);estrogen synthase;estrogen synthetase;flavoprotein-linked monooxygenase;microsomal monooxygenase 2289561 BW440_H APPROVED protein-coding ENSG00000137869 HGNC:2594 00488 107910;139300;613546 REVIEWED 1606532 CYP20A1 cytochrome P450, family 20, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008] 2 2 2 q33.2 197856120 197924954 + 204103164 204170563 + 203238441 203305840 + 6480464 11178272;12477932;12975309;14702039;15128046;15191668;19898482;19946888;20966902;21832049;9890157 57404 C9J8K7;E9PHG5;F2Z3K6;F8WBE2;Q6UW02 ABBA01062602;ABBA01062603;ABBA01062604;ABBA01062605;ABBA01062606;ABBA01062607;ABBA01062608;ABBA01062609;AC011737;AC080075;AF183412;AF289579;AK021770;AK297082;AK307931;AL832998;AMYH02005593;AMYH02005594;AY359068;BC020616;BC033752;BC093022;BM141805;BM142090;BM998900;CH471063;NG_007956;NM_177538;XM_005246698;XM_005246699;XM_005246700;XM_005246701;XM_006712644;XM_006712645 AAG09681;AAH20616;AAH33752;AAH93022;AAL55763;AAQ89427;AAX88915;AAY14934;ABM81844;ABM84994;ABM84995;BAG59599;CAH56305;EAW70332;EAW70333;EAW70334;NP_803882;Q6UW02;XP_005246755;XP_005246756;XP_005246757;XP_005246758;XP_006712707;XP_006712708 Hs.446065;Hs.707756 1728841;1728849;1767066;1776690;2107987;2159784;5015404;5015619;5015861;5015959;5016352;5016478;5016596;5020494;5020740;5020881;5021396;5021431;5022200;5022322;5022450;5022578;5022651;5024039;5037552;5109281;5118576;7185938 CYP20A1_2976;D10S16;D10S2448;D10S275;D11S2560;D11S2921;D11S3114;D11S3430;D16S325;D1S1423;D1S1425;D8S2279;G54497;G54498;GDB:313783;GDB:434012;GDB:631802;L17702;L17705;L17709;L17809;L18062;L18426;L30021;RH65777;RH69647;STS-AA004596 CYP-M;MGC22229 OTTHUMP00000163753;OTTHUMP00000206148;OTTHUMP00000206151;cytochrome P450 20A1;cytochrome P450 monooxygenase APPROVED protein-coding ENSG00000119004 HGNC:20576 07100 REVIEWED 1602821 CYP1B1-AS1 CYP1B1 antisense RNA 1 2 2 2 p22.2 38199069 38249826 + 38358247 38408997 + 38131105 38181855 + 12477932 285154 ABBA01074990;AC009229;AMYH02003621;BC031410;CH471053;HG493869;NR_027252 EAX00378;EAX00379;EAX00380 Hs.353894 2184472 D2S2726 C2orf58;MGC34824 hypothetical protein mgc34824 APPROVED ncrna ENSG00000232973 HGNC:28543 14592 PREDICTED 731375 CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008] 10 10 10 q23-q24 88574439 88578848 + 94833232 94837641 + 93073475 93077884 + 737785;1580863;6480464;6484694;6484672;6907045;8554872 11953746;19700416;21621639 10583049;10823918;10874126;10976925;12727970;14532297;14702039;15128046;15281009;16053444;16194896;16463413;16778795;16933217;17059167;17218384;17460545;18059332;18992717;19519282;19553612;19703508;20167577;20375987;20513361;20682464;20686565;20693622;21521770;21850183;21975512;22020119;22179182;23396134;24043786;24097068;8601734;9228017;9228041;9521883;9716180;9826557 1592 O43174 ABBA01021882;AF005418;AK027560;AK075374;AL358613;AMYH02023549;CH471066;NG_008067;NM_000783;NM_057157 AAB88881;AAI56284;AAI57064;BAG51346;EAW50078;EAW50079;NP_000774;NP_476498;O43174 Hs.150595 1797464;2119472 CYP26A1_2009;RH44983 CP26;CYP26;P450RAI;P450RAI1 OTTHUMP00000020102;OTTHUMP00000020103;P450, retinoic acid-inactivating, 1;cytochrome P450 26A1;cytochrome P450 retinoic acid-inactivating 1;cytochrome P450, subfamily XXVIA, polypeptide 1;cytochrome P450RAI;cytochrome p450, 26, retinoic acid;hP450RAI;retinoic acid 4-hydroxylase;retinoic acid-metabolizing cytochrome APPROVED protein-coding ENSG00000095596 HGNC:2603 03759 602239 REVIEWED 1347734 CYP21A1P cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene INTERACTS WITH 17alpha-ethynylestradiol (ortholog); ammonium chloride (ortholog); beta-naphthoflavone (ortholog) 6 6 p21.3 31973413 31976686 + 32005636 32008909 + 6480464 12107411;12121677;14502362;14574404;15028279;15036125;15793784;15941926;17275379;17666484;18039588;19135723;19201236;19505723;19624807;20970527;21324303;23313747;23535732;2845408;3038528;3486422;3487786 1590 AL645922;AL929593;AMYH02013460;BQ637676;BX679671;CD014134;CR753845;M12793;M13935;M26857;NR_040090;XR_247414;XR_247415;XR_431018 Hs.654479 1678425;1797462;2106223;2137309;2157927 CYP21A2_2362;G29213;N3_3_2;RH11436;WI-7720 CYP21A;CYP21P;P450c21A pseudo ENSG00000204338 HGNC:2599 VALIDATED 1606586 CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13 49474643 49495166 - 52769985 52790516 - 54153449 54173977 - 6480464;8699517;7240710;8554872 10218951;11149490;11780052;12477932;12485911;12641633;12855575;14665637;14760115;15078099;15128046;15146197;15358094;15583024;15630458;15788398;15919092;15951480;16457885;16516540;16600026;16617161;16691293;16708384;16720713;17023519;17079137;17223345;17244366;17254772;17368180;17426122;17475215;17585873;17606874;17646648;17875655;17932346;18467787;18676680;18824104;18843020;19097033;19170196;19237542;19255064;19343046;19393625;19453261;19454612;19505920;19625176;19667160;19692168;19706847;19852851;19891555;19901270;19913121;19922790;20007432;20304053;20304056;20304059;20394945;20398751;20450955;20453000;20460683;20467438;20541252;20587525;20591973;20628086;20654748;20687218;20809279;20831823;20847308;20877624;21169243;21385079;21440908;21441443;21675912;21697097;21725204;21828234;21833088;21906983;22213328;22285938;22404291;22511602;22612324;22648713;22649517;22690899;22841393;22871965;22940288;22984610;23042114;23059474;23155244;23169318;23293122;23377224;23393347;23423976;23435876;23456391;23463632;23485543;23674869;23826131;23869778;23869781;24068962;24245571;24416388;24471562;24643654;24893882;7595086;7632726;7829101;7938037;8266831;8440135;8506296 1591 Q07973 ABBA01052870;AI400154;AL138805;AMYH02037307;AMYH02037308;AW022349;AY858838;BC109083;BC109084;BI491491;BM928702;BU662901;CH471077;CN311231;L13286;N29030;NG_008334;NM_000782;NM_001128915;S67623;U60669;XM_005260304 AAA62379;AAB03776;AAB29308;AAI09084;AAI09085;AAW50795;EAW75573;NP_000773;NP_001122387;Q07973;XP_005260361 Hs.89663 1660050;2109209;2133325;5014742 CYP24A1_4663;G10652;STS-N34457;WI-9227 CP24;CYP24;HCAI;MGC126273;MGC126274;P450-CC24 1,25-@dihydroxyvitamin D3 24-hydroxylase;1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial;24-OHase;OTTHUMP00000031314;OTTHUMP00000165939;OTTHUMP00000165940;cytochrome P450 24A1;cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase);cytochrome P450-CC24;exo-mitochondrial protein;vitamin D 24-hydroxylase;vitamin D(3) 24-hydroxylase APPROVED protein-coding ENSG00000019186 HGNC:2602 00522 126065;143880 REVIEWED 730870 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. [provided by RefSeq, Jul 2008] 15 15 15 q24.1 51961906 51967900 - 75011883 75017951 - 74719542 74725610 - 1581251;1581252;727674;1300048;1580863;2301040;2301045;2306675;2307073;2307074;2307076;2317212;2317211;2317210;4892071;4293707;4892073;4889126;4892074;4142512;4892075;4892072;4145530;4892045;5147678;5135235;5129544;2314952;5147674;5147675;5147744;5147746;5135288;5147681;5147745;4892242;5147671;5147677;5147680;5147672;5147676;5147679;5147747;5147670;6480464;6907045;7296941;7257728;7257736;1581249;7257733;8552794;7257730;7296954;7296939;7257729;7257732;7257735;7175305;7296923;8552810;7296937;8552789;8552799;7257731;7296938;8552792;8699517 10599336;10711628;11115552;11484167;11793160;11996959;12039987;12415424;12464257;12496044;12590982;12621079;12713578;12880680;12971802;14593914;14611903;14687717;15088300;15123765;15124938;15665729;15928955;15958656;16006567;16696009;16882535;17603290;18200441;18287863;18318428;18367723;18374908;18389617;18495746;18497059;18849443;18979064;18990008;19168589;19507017;19561157;19595018;19733976;19890363;19903800;20080081;20595028;20634294;20826654;21374063;21418988;21907489;21990318;22000673;22296350;22687991;23391631;23619522;8267628;8872868;9426059;9631944 10493257;10612842;10739168;11037802;11037803;11045797;11052546;11124296;11159735;11162685;11172643;11191882;11207026;11236859;11246217;11259393;11275366;11279306;11291049;11295132;11295847;11325850;11330960;11389067;11393538;11396202;11406420;11406608;11408349;11408954;11410321;11418090;11422615;11434510;11436564;11459424;11470760;11470992;11470996;11471167;11485833;11487538;11488937;11500195;11501853;11503278;11507974;11511301;11520401;11525595;11535253;11551408;11564581;11641039;11675150;11675474;11689007;11698341;11719088;11751440;11752233;11779261;11792676;11798822;11833070;11854392;11859435;11860825;11860900;11872636;11895912;11934439;11952781;11955671;11967624;12018173;12030651;12034316;12036913;12063626;12071517;12100112;12110344;12139735;12144816;12147246;12163326;12170467;12171760;12175533;12183419;12189551;12210502;12210751;12237110;12269988;12297440;12351530;12354067;12365037;12378791;12397416;12419832;12435115;12468438;12477932;12484238;12490585;12527337;12548461;12569554;12574216;12579334;12594823;12602902;12620480;12631667;12646505;12670526;12680328;12690010;12718576;12729704;12732844;12738724;12746631;12748560;12760253;12767509;12767526;12771031;12772461;12777964;12824892;12827651;12845676;12846365;12854128;12879168;12883749;12903034;12919721;12925969;12934333;12949934;14510941;14534704;14560034;14582397;14602139;14602525;14634838;14639127;14646291;14656945;14665706;14675315;14693745;14695173;14719475;14724908;14734460;14758730;14991750;15013696;15037607;15039299;15052670;15059326;15061915;15064998;15069692;15093273;15111988;15127181;15127559;15128046;15136237;15152552;15176217;15177667;15180167;15184245;15185560;15194533;15195126;15206494;15215328;15217514;15241822;15279831;15298956;15298960;15299091;15319333;15327835;15333250;15333597;15341023;15352038;15355699;15363546;15375499;15376230;15381379;15382051;15382273;15386428;15459023;15469410;15478298;15489334;15491310;15496536;15521013;15526353;15528152;15546903;15547760;15552037;15579657;15583370;15591802;15596250;15605089;15618738;15640066;15642161;15643613;15646021;15647817;15648054;15653213;15671210;15712341;15725614;15731166;15734083;15734958;15756908;15764294;15765281;15769360;15774541;15774926;15801491;15849806;15856430;15861041;15867368;15870154;15914211;15914277;15920291;15931768;15938845;15941966;15952134;15953982;15981231;15986113;15991278;16009381;16012082;16037119;16043197;16051642;16084889;16099114;16103451;16130011;16142442;16153604;16202920;16227674;16228113;16235998;16254684;16260521;16270381;16273625;16284375;16284498;16318816;16319265;16337337;16357593;16357600;16360200;16367916;16393248;16402077;16402549;16403567;16407087;16414014;16416283;16424825;16426572;16466991;16471212;16481407;16484137;16488179;16492926;16493615;16505155;16527884;16580705;16598069;16599372;16608396;16609368;16614107;16614120;16620591;16625286;16638864;16676594;16697254;16721740;16763966;16767678;16771603;16788090;16792888;16803538;16807674;16823842;16834659;16835796;16837240;16864595;16882880;16914185;1691986;16926176;16947004;16949388;16956909;16971197;16977255;16985026;16985033;16985250;16998606;17022435;17035385;17053541;17063266;17078101;17081983;17083362;17113562;17118447;17119063;17158763;17160265;17160896;17164366;17167268;17171211;17174438;17191090;17192049;17220347;1722803;17307802;17307803;17311112;17316563;17361553;17363580;17367411;17372239;17372243;17372252;17403528;17408703;17412371;17427032;17428572;17429172;17429315;17449539;17461521;17477782;17479406;17496311;17498780;17507624;17512722;17512776;17526865;17531965;17548691;17549424;17566695;17577786;17588204;17589376;17590289;17610937;17611777;1761516;17620151;17623765;17630984;17640999;17642299;17646057;17651397;17695473;17706398;17711714;17717632;17728147;17786624;17823232;17852022;17873299;17896209;17900751;17908297;17919073;17919675;17959138;17980001;17980933;17981384;17982751;17996038;18061941;18065768;18070799;18074679;18078203;18082227;18090121;18159984;18180754;18203021;18203634;18224491;18241825;18247309;18261353;18268125;18285692;18287869;18304461;18317771;18320229;18339256;18351133;18409146;18409147;18414197;18415690;18415801;18437510;18447907;18449058;18463401;18493746;18495522;18496222;18507050;18507060;18510611;18550589;18569591;18577398;18589596;18590468;18593984;18601742;18618215;18628428;18632753;18636124;18642288;18676680;18691756;18698632;18700132;18706519;18763031;18767181;18768509;18774560;18779756;18784359;18798002;18800292;18818748;18819424;18824009;18936436;18941913;18980759;18990750;18992263;19009239;19012698;19013013;19019335;19022366;19024313;19031960;19064581;19070657;19074885;19110417;19126602;19127255;19138996;19143007;19147266;19160101;19170196;19174490;19178087;19219744;19222528;19229255;19246429;19252926;19264525;19267064;19276377;19285097;19287966;19290787;19303595;19307236;19317600;19336370;19338043;19339270;19343046;19346634;19351467;19356113;19387820;19412423;19414505;19415745;19424633;19424794;19427967;19430483;19443378;19452301;19453261;19456854;19469619;19472123;19479063;19505920;19507064;19521675;19526463;19527514;19537956;19538838;19563927;19574343;19575027;19576320;19582785;19598235;19608585;19625176;19627379;19630952;19632247;19639480;19643819;19650794;19666078;19679043;19682433;19692168;19718946;19750329;19751749;19776291;19786002;19789190;19789301;19797843;19799358;19822571;19826048;19827888;19860743;19863350;19892789;19899130;19913121;19947517;19948975;19954068;19954069;19963114;19963139;19995559;20009880;20012094;20027111;20029944;20032816;20035380;20047124;20052535;20054510;20088379;20088394;20094781;20095411;20131310;20136364;20177288;20193595;20214802;20226777;20297661;20345875;20373852;20375710;20377136;20381444;20428802;20437850;20453000;20462615;20491576;20511665;20529763;20534171;20544687;20554493;20559649;20579990;20584197;20596254;20602615;20628086;20628863;20634197;20634891;20638923;20644561;20661821;20664892;20700368;20701904;20704749;20723587;20734064;20734807;20804547;20817259;20845989;20846153;20850372;20855412;20878561;20878621;20883830;20884258;20886582;20887941;20937634;20957336;20962519;20965504;20970553;21081473;21086258;21130723;21211368;21246002;21254355;21254556;21262253;21270613;21304969;21329749;21357676;21385088;21402622;21438753;21490707;21508386;21545198;21545219;21586621;21590276;21709011;21710246;21718208;21775774;21848428;21859547;21869479;21870186;21876539;21909115;21977969;22018952;22025136;22086975;22088806;22109568;22154617;22183307;22213191;22217397;22236719;22273851;22277800;22281432;22292665;22294106;22297691;22304463;22311486;22312901;22359202;22365406;22374940;22384629;22392998;22395499;22422552;22442665;22448487;22470100;22579698;22594779;22611936;22660220;22664944;22707145;22733497;22752755;22754477;22782580;22837390;22846179;22847262;22854411;22855999;22876118;22893352;22901117;22909097;22918668;22948778;22949628;22951721;22952673;22964275;22994769;22997752;23000097;23013535;23033491;23046808;23055196;23056546;23065259;23065291;23098461;23111888;23124075;23152866;23174221;23178447;23229202;23259321;23288144;23293967;23350368;23353840;23369756;23381648;23411129;23419638;23424205;23462525;23471717;23475304;23492908;23508959;23528250;23548414;23576571;23661361;23707957;23733671;23785672;23816456;23832578;23840148;23842721;23848208;23860774;23870476;23873331;23886179;23918309;24065535;24068433;24091107;24096584;24168324;24307623;24316127;24355420;24358191;24382322;24391993;24443269;24460333;24466186;24498651;24504680;24535777;24552248;24613751;24629213;24851608;24926919;24945098;25011215;2989797;3000715;3019683;3714481;3838385;4000952;6102994;8095225;8125298;8313840;8442765;8548778;8895751;9500998;9890157 1543 A0N0X8;A4F3V8;A4F4K4;E7EMT5;P04798;Q5J9B1 ABBA01060499;AC091230;AF040259;AF253322;AK223108;AK223113;AK310810;AK313880;AM233517;AM233518;AM233519;AM233520;AM236046;AM236047;AMYH02030798;AY310359;AY871801;BC023019;CH471136;D10855;EF094025;K03191;M12079;NG_008431;NM_000499;X02612;X04300;XM_005254185 AAA52139;AAA52152;AAD10199;AAH23019;AAK25727;AAQ76692;AAX62803;ABK41999;ABM82441;ABM85632;BAD96828;BAD96833;BAG36606;CAA26458;CAA27843;CAJ80720;CAJ80721;CAJ80722;CAJ80723;CAJ84703;CAJ84704;EAW99314;EAW99315;NP_000490;P04798;XP_005254242 Hs.72912 1795662;2135898;2143438;2216950 CYP1A1_14;SHGC-6128;STS-K03191;UniSTS:461912 AHH;AHRR;CP11;CYP1;CYPIA1;P1-450;P450-C;P450DX OTTHUMP00000183469;aryl hydrocarbon hydroxylase;cytochrome P1-450, dioxin-inducible;cytochrome P450 1A1;cytochrome P450 form 6;cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1;cytochrome P450-C;cytochrome P450-P1;flavoprotein-linked monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000140465 HGNC:2595 00148 108330 REVIEWED 736765 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008] 2 2 2 p22.2 38135623 38144201 - 38294746 38303323 - 38067603 38076181 - 1599716;728267;1300048;1580863;6480464;6907045;7240710;7829735;7829714;734869;7257730;7800670;7800682;7800680;7829734;7800657;7800707;7800719;7800696;7800695;7800664;7800658;7800688;7800689;7829715;7800711;8554872;8699517 10227395;10739169;11097088;12567107;12624268;15621878;16319821;16490498;17563717;18055790;18483560;18618592;19247456;19593207;19597567;20664688;20805442;21990318;23922489;7744798;9097971 10614688;10871058;11221602;11303589;11389067;11403040;11452143;11555828;11558822;11749050;11774072;11854439;11955671;12010864;12183407;12200121;12372064;12385014;12415427;12419832;12477932;12520071;12525557;12598442;12602902;12618873;12692107;12718576;12770747;12807732;12837283;12844487;12873984;14507861;14520706;14562027;14634838;14656940;14729846;14734460;14744739;14961553;15041720;15072827;15075793;15102677;15122594;15128046;15177664;15199113;15255109;15255550;15258110;15285606;15297370;15299091;15333708;15342454;15342556;15342693;15382051;15386537;15475877;15489334;15596250;15636228;15654505;15723004;15733270;15734954;15734958;15774541;15777990;15808404;15861043;15896461;15905203;15941966;15958554;15987428;16006997;16051642;16103451;16115918;16172228;16172230;16202920;16207128;16260521;16284375;16319265;16344560;16384942;16569655;16598069;16638984;16688110;16716118;16730930;16735991;16735994;16766147;16808847;16847423;16850246;16862072;16864595;16896040;16949388;16963504;16977255;16978616;16985026;16985250;17035385;17053044;17063266;17077994;17157584;17164573;17174438;17187946;17200336;17220347;17224759;17224914;17301257;17311112;17321191;17353931;17363580;17372239;17372243;17403528;17429315;17449539;17449559;17458695;17496311;17498780;17507616;17507624;17548691;17562158;17575219;17588204;17589376;17591938;17603900;17615053;17627011;17642299;17687619;17704407;17718864;17893647;17914928;17919675;17922187;17925548;17980933;18059014;18067928;18070520;18187806;18227148;18258609;18268125;18318428;18347981;18385784;18414103;18415014;18425393;18470941;18486761;18497059;18510611;18537981;18544568;18569579;18569591;18573508;18575334;18616618;18622259;18628428;18632753;18676680;18763031;18779756;18784359;18794456;18820009;18829176;18841557;18852424;18922394;18936436;18977467;18980759;18989382;18990750;18992148;19015200;19031960;19064581;19074885;19083124;19094228;19096718;19116217;19126602;19127255;19138946;19138996;19170196;19174490;19179758;19195637;19199255;19208203;19214745;19229255;19234632;1925598;19274671;19287966;19290787;19293312;19324859;19331196;19338043;19343046;19349377;19357154;19383894;19414505;19415745;19424633;19424794;19443378;19453261;19479063;19505920;19514368;19528825;19536304;19574343;19575027;19582785;19598235;19622003;19625176;19630952;19643970;19666078;19668563;19668597;19690133;19692168;19730035;19736056;19744731;19751749;19754948;19776291;19789190;19789301;19793111;19820397;19822571;19857456;19860743;19895167;19898482;19908239;19913121;19956635;19963139;19995559;20027111;20029944;20033481;20037207;20051892;20054638;20057908;20088394;20131310;20137445;20151268;20184498;20198857;20198978;20212917;20214802;20301314;20357201;20375710;20391138;20395011;20403997;20453000;20461808;20462226;20492382;20505544;20529763;20559649;20568895;20628086;20632082;20634197;20634891;20660114;20678202;20683028;20701755;20734064;20830506;20845989;20875115;20878130;20884258;20887769;21072184;21081473;21081970;21139974;21147782;21168818;21191305;21303932;21306220;21409489;21438753;21458313;21596299;21600657;21614911;21655360;21674184;21683070;21707071;21742528;21850185;21854771;21890473;21963094;21987572;22004014;22011756;22114726;22128238;22138065;22177211;22190224;22232929;22272893;22296381;22327650;22374940;22459615;22466345;22504876;22509109;22594779;22840970;22859684;22878448;22942166;23028769;23032576;23087145;23215915;23218183;23218701;23283740;23325794;23350153;23350368;23353840;23370603;23757320;23785672;23794133;23861929;23873331;23916819;24086543;24168324;24210336;24227805;24343338;24358191;24453031;24497629;24535777;24926919;25018621;8175734;8910454;9463332;9497261;9823305;9890157 1545 Q16678;Q53TK1 ABBA01074989;AC009229;AF171066;AF450132;AK297039;AK303862;AK312686;AMYH02003620;AY393998;BC012049;BP326939;BT019979;BT020001;CH471053;DA662236;DQ016495;DQ359216;KF459611;KF573675;NG_008386;NM_000104;U03688;U56438 AAA19567;AAC50809;AAG43404;AAH12049;AAM50512;AAQ87875;AAV38782;AAV38804;AAY34975;ABC95161;ADZ16030;BAG35566;BAG59567;BAG64801;EAX00382;EAX00383;NP_000095;Q16678 Hs.154654 1674666;1685073;1689656;1795664;1854350;2121337;2139150 CYP1B1_568;RH68906;RH69650;RH70529;RH91400;RH92415;SHGC-12924 CP1B;CYPIB1;GLC3A;P4501B1 OTTHUMP00000126963;OTTHUMP00000201401;aryl hydrocarbon hydroxylase;cytochrome P450 1B1;cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile);cytochrome p450, subfamily 1b, polypeptide 1;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000138061 HGNC:2597 03464 137750;137760;231300;601771;604229 REVIEWED 1346271 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33573108 33576445 + 32006093 32009447 + 32035476 32041670 + 1580863;4889127;4889549;6480464;6907045;7240710;8554872;8699517 12930931;15583024 10051010;10072631;10094562;10198222;10207042;10229037;10343159;10364682;10391209;10408778;10408786;10443693;10496074;10720040;11073721;11093272;11232002;11287026;11457572;11581476;11598371;11600539;11692155;11739456;11746135;11836313;12028996;12038604;12050231;12050257;12121677;12213672;12213891;12220458;12222711;12370110;12384784;12464252;12477932;12746407;12788866;12788880;12788889;12855227;12876419;12887291;12915679;12966197;1351548;1406699;1406709;14502362;14514162;14671153;14676460;14676461;14702039;14715874;14733808;1496017;15004406;15027205;15028279;15110320;15126570;15128046;15342556;15493145;15572419;15598692;15608154;15627780;15705377;15751603;15761541;15775714;15793784;15818055;15830218;15858147;15988383;16046588;1605859;16238926;16344560;16427797;1644925;16487445;16500637;16541276;16648810;16712666;16728546;16788163;16984992;17033937;17047018;17119906;17275379;17466088;17505149;17526939;17551464;17573904;17666484;17803691;17878254;18028896;18039588;18042312;18179706;18204270;18319307;18381579;18392095;18397975;18445671;18478071;18505908;18589890;18636124;1864962;18702679;18787377;18825878;18973462;19039234;19058224;19062540;19085698;19116923;19135723;19137635;19158234;19201236;19208730;19226270;19272182;19347184;1937474;19420818;19423540;19449670;19453261;19501079;19505723;19531083;19598235;19624807;19773403;19799922;19844122;1985465;19856253;19890026;19925038;19930153;20029944;20059433;20070950;20080860;20110635;20132843;20201644;20233785;20301350;20406964;20423741;20438785;20587039;20587610;20617557;20661889;20671415;2072928;20818501;20838032;20926536;20970527;21117955;21134444;21164261;21164262;21169732;21175091;21198393;21264314;21274396;21446712;21521936;21534945;21570420;21609351;21646284;21750395;21912141;22001566;22014889;22017335;22020670;22127631;22217838;22308849;22313422;22497080;2249999;22561756;22802425;22841790;22873692;22885098;22886582;22978668;23027774;2303461;23044877;23045419;23073904;23142378;23155693;23211577;2325662;23298233;23313747;23322511;23329749;23342490;23359706;23370425;23376085;23386413;23535732;23586722;23692712;24081139;24312389;24928004;25119915;2788081;2827462;2845408;3038528;3137812;3257825;3260007;3260033;3267225;3486422;3487786;3497399;3500473;3871526;5804199;7096533;7629224;7635470;7749410;8081391;8175971;8372604;8478006;8485582;8518786;8675607;8731325;8968761;8989258;9067760;9099896;9187661;9215318;9497336;9580109;9661649 1589 E7EN87;E7ERT7;E7EVC0;F8WBR4;P08686;Q08AG9;Q16874 ABBA01038102;AF019413;AF077974;AK054616;AK314651;AL049547;AL645922;AL662828;AL662849;AM086564;AM086565;AM183945;AM183946;AM183947;AM183948;AM183949;AM183950;AM183951;AMYH02013465;AV708092;BC125181;BC125182;BC128535;BP198315;BX679671;CD013985;CD013987;CH471081;CR753845;CR936924;DA008890;DA014348;DB295152;GQ222275;GQ222276;GQ222277;GQ222278;GQ222279;GQ222280;GQ222281;GQ222282;GQ222283;GQ222285;GQ222287;GQ222289;GQ222290;GQ222291;GQ222292;GQ222293;GQ222295;GQ222297;GQ222298;GQ222299;GQ222300;GQ222302;GQ222303;GQ222304;GQ222305;K02771;M12792;M13936;M17252;M19711;M21550;M26856;M28548;NG_007941;NM_000500;NM_001128590;S60612;X58898;X58899;X58900;X58902;X58904;X58906;X58907;XM_006715001;XM_006715002;XM_006725472;XM_006725473;XM_006725896;XM_006725897;XM_006726076;XM_006726077 AAA52063;AAA52064;AAA52065;AAA59695;AAA59706;AAA59985;AAA83248;AAB59440;AAB67982;AAD13914;AAD45405;AAI25182;AAI25183;AAI28536;ACT35401;ACT35402;ACT35403;ACT35404;ACT35405;ACT35406;ACT35407;ACT35408;ACT35409;ACT35411;ACT35413;ACT35415;ACT35416;ACT35417;ACT35418;ACT35419;ACT35421;ACT35423;ACT35424;ACT35425;ACT35426;ACT35428;ACT35429;ACT35430;ACT35431;BAB70774;BAG37212;CAA41702;CAA41703;CAA41704;CAA41706;CAA41707;CAA41709;CAA41710;CAB89301;CAJ31103;CAJ31104;CAJ75799;CAJ75800;CAJ75801;CAJ75802;CAJ75803;CAJ75804;CAJ75805;EAX03570;EAX03571;NP_000491;NP_001122062;P08686;XP_006715064;XP_006715065;XP_006725535;XP_006725536;XP_006725959;XP_006725960;XP_006726139;XP_006726140 Hs.654479 1678425;1797462;2106223;2137309 CYP21A2_2362;N3_3_2;RH11436;WI-7720 CA21H;CAH1;CPS1;CYP21;CYP21B;MGC150536;MGC150537;P450c21B 21-OHase;21-hydroxylase;OTTHUMP00000029083;OTTHUMP00000174778;cytochrome P-450c21;cytochrome P450 21;cytochrome P450 XXI;cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2;cytochrome P450-C21;cytochrome P450-C21B;steroid 21-hydroxylase;steroid 21-monooxygenase APPROVED protein-coding ENSG00000231852 HGNC:2600 01942 201910;613815 REVIEWED 1318849 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008] 10 10 10 q23.33 88562228 88569661 + 94820565 94829304 + 93060808 93069547 + 6480464;6484672;6907045;8699517;7240710;8554872 21621639 14532297;15128046;15164054;16385451;16933217;19703508;21139048;21850183;23161670 340665 Q6V0L0;Q6ZNJ6 ABBA01021882;AK127234;AK131099;AL358613;AMYH02023549;AY356349;CH471066;NG_007958;NM_183374;XR_246086 AAQ55485;BAC85149;EAW50080;EAW50081;NP_899230;Q6V0L0 Hs.369993 2218454;5022578 CYP26C1_4664;D1S1423 FFDD4;FLJ45301 OTTHUMP00000020104;cytochrome P450 26C1 APPROVED protein-coding ENSG00000187553 HGNC:20577 12230 608428;614974 REVIEWED 1346613 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008] 2 2 2 q35 213414219 213447784 + 219646472 219680016 + 218781749 218815293 + 1600654;1600872;1600874;1580863;6480464;6907045;7240710;8554872;8699517 16258026;2019602;9486994 10519880;11167933;11604260;11903362;12000359;12011083;12117727;12119285;12242561;12477932;12777473;14672608;14741198;15128046;15340076;15489334;15533057;15708352;16157755;16372260;16584175;16930540;1708392;17088262;17292862;17482558;17697869;17875655;18227423;18791760;19255064;19343046;19671838;19852851;19913121;20149624;20301317;20301583;20402754;20450308;20558929;20628086;20654748;20809279;20855565;20877624;21049985;21134350;21258856;21411718;21498512;21958693;21988832;22018287;22185844;22227097;22509407;24029861;24080357;24096962;24280213;24501781;24732451;7690968;7915755;8125298;8514861;9186905;9215552;9790667 1593 C9J1K5;F8WD90;Q02318 ABBA01023857;AC009974;AK226039;AK290418;AK310782;AMYH02005807;AMYH02005808;AY178622;BC017044;BC040430;BC051851;CH471063;M62401;NG_007959;NM_000784;S62709;X59812 AAA52142;AAB27199;AAH40430;AAH51851;AAO21126;BAF83107;CAA42481;EAW70653;EAW70654;EAW70655;NP_000775;Q02318 Hs.516700 1661820;1683427;2217238 CYP27A1_2778;RH69156;RH79678 CP27;CTX;CYP27 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase;5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase;5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase;OTTHUMP00000045925;cholestanetriol 26-monooxygenase;cytochrome P-450C27/25;cytochrome P450 27;cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1;sterol 26-hydroxylase, mitochondrial;sterol 27-hydroxylase;vitamin D(3) 25-hydroxylase APPROVED protein-coding ENSG00000135929 HGNC:2605 05939 213700;606530 REVIEWED 1353273 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 38181466 38188779 - 41381344 41388657 - 40875439 40882752 - 1580863;6480464;6907045;8554872 10353262;10493259;11960914;12325023;12477932;15128046;16636685;22890016;2322567;7668294;7864805;8043031;8587134;9890157 1549 F8W816;M0R020;P20853 ABBA01040793;AC008537;AMYH02036126;BC117165;BC143325;CH471126;M33317;NG_007960;NM_000764;NM_030589;U22029 AAA52138;AAB40520;AAI17166;AAI43326;EAW57013;EAW57014;NP_000755;NP_085079;P20853 Hs.719890 2109211;2130247;2144540 CYP2A7_3119;DXS7515;RH11626 CPA7;CPAD;CYP2A;CYPIIA7;P450-IIA4 cytochrome P450 2A7;cytochrome P450 IIA4;cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7;cytochrome P450IIA4 APPROVED protein-coding ENSG00000198077 HGNC:2611 07453 608054 REVIEWED 1353365 CYP2A cytochrome P450, family 2, subfamily A ASSOCIATED WITH Coumarin Resistance (inferred); Lung Neoplasms (inferred); TOBACCO ADDICTION, SUSCEPTIBILITY TO (inferred); INTERACTS WITH coumarin 6480464;7240710 15128046 1546 NG_000008 1299912;1338341;1660631;1669248;1684770;1688302;1739527;1754461;1787476;2118954;2125826;2130247;2136595;2144540;2151245;2153014;2153366;2162485 D14S935;D19S1055;D19S1089;D19S1167;D19S223;D19S400;D19S815;D19S986;D19S993;D2S2863;DXS7515;RH11435;RH11626;RH80275;RH80817;SHGC-132734;SHGC-172860;SHGC-32170 HGNC:2607 122700;188890;211980 1343424 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 38149869 38156776 - 41349441 41356360 - 40843538 40850447 - 1580863;6480464;6907045;7240710;8554872;8699517 10544257;10781881;11054771;11207029;11237731;11241319;11259349;11278503;11434509;11684323;11725533;11805739;11927498;11927840;11960911;11960914;12115524;12162851;12164325;12172220;12223434;12325023;12406643;12419832;12445030;12477932;12708602;12721789;12749606;12844137;12883749;14568264;14583682;14981342;15039299;15128046;15203795;15225612;15308589;15327835;15370155;15454735;15469410;15475735;15489334;15534625;15564629;15592323;15618701;15660270;15665333;15671201;15680923;15861035;15861044;15900015;15940289;15993850;16006997;16041240;16048566;16086027;16126166;16176798;16207711;16272956;16344560;16372023;16377082;16378601;16402086;16402128;16452582;16470306;16636685;16720336;16758265;16857725;16891249;16952495;17015050;17036930;17112802;17130279;17156750;17207267;17220563;17259654;17267622;17454707;17522595;17540336;17549345;17646279;17683511;17916905;17927692;17934923;17979512;18004205;18188752;18212800;18216723;18356043;18360915;18380793;18425152;18510611;18666753;18698229;18715882;1889415;18936436;18941913;18976031;18979093;19012698;19029318;19040121;19082995;19104915;19225447;19251454;19279561;19290787;19300303;19303722;19339270;19343046;19361454;19365400;19371316;19387893;19406142;19415821;1944238;19454817;19479063;19533856;19537956;19604090;19643819;19651758;19659438;19702528;19703308;19751749;19779319;19789190;19845430;19921195;19956635;20012030;20061389;20089352;20136358;20139165;20155256;20173083;20177288;20336063;20418888;20418890;20437850;20438369;20506136;20596643;20647221;20656072;20701904;20717551;20719908;20734048;20734064;20860463;20887713;21205058;21265876;21326246;21410749;21418183;21473878;21521021;21685187;21745589;21747048;21765098;21791872;21964962;22073590;22080838;22160797;22217675;22271297;22322240;22342802;22465937;22497566;22498344;22547082;22614024;22696418;22706231;22847926;22850738;22854688;22890016;23049750;23178447;23203414;2322567;23292114;23371292;23462429;23471717;23528144;23585826;23649654;23733493;23813797;24045616;24127329;24192532;24305170;2726448;2748347;3856261;4011450;7581481;7668294;7864805;8587134;9409631;9827545;9890157 1548 M0R2Z4;P11509 ABBA01040792;AC008537;AF182275;AF326721;AK307740;AK309594;AK312964;AMYH02036126;BC096253;BC096254;BC096255;BC096256;CH471126;DA641580;EU135979;FJ440681;KF459705;M33318;NG_008377;NM_000762;U22027;X06401;X13897;X13929 AAA52067;AAB40518;AAF13600;AAG45229;AAH96253;AAH96254;AAH96255;AAH96256;ABV02584;ACK44068;ADR83022;BAG35803;CAA32097;CAA32117;EAW57012;NP_000753;P11509 Hs.250615 1660631;2130247;2144540;5126674 D19S993;DXS7515;RH11626;RH11716 CPA6;CYP2A;CYP2A3;CYPIIA6;P450C2A;P450PB 1,4-cineole 2-exo-monooxygenase;coumarin 7-hydroxylase;cytochrome P450 2A6;cytochrome P450 IIA3;cytochrome P450(I);cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6;flavoprotein-linked monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000255974 HGNC:2610 00420 122700;122720;188890;211980 REVIEWED 1354364 CYP2A7P1 cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1 INTERACTS WITH aflatoxin B1 19 19 19 q13.2 38214259 38334163 - 41530169 41533989 - 41024264 41028084 - 6480464 11692077;15128046;7668294;8587134 1550 ABBA01040796;AC008537;AC011541;AC023172;AC092071;AMYH02036127;NG_029327;U22030;U22044 Hs.733030 1299912;1669248;1684770;1688302;1739527;2136595;2153366;2188919 D19S1089;D19S1167;D19S400;D19S815;G65975;RH11435;RH80275;RH80817 CYP2A18PC;CYP2A18PN;CYP2A7P2;CYP2A7PT pseudo HGNC:2612 INFERRED 736189 CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 2 2 2 p13.2 72206377 72224974 - 72356367 72374991 - 72129238 72147862 - 1580863;6480464;6771354;6484694;6484672;6907045;8699517;7240710;8554872 19700416;21138835;21621639 10545224;10823918;11744378;12101034;12477932;14532297;15128046;15489334;15815621;16574820;16933217;19322201;19703508;19884280;19953087;20375987;20606468;21482329;21641851;21945024;22019272;22020119;22415012;22666329;22899867;22965740;22985482;23298258;23303528;23320086;23409080;23554885;23587162;23837398;24726878 56603 E5RHM2;E5RHN4;E7ER08;Q9NR63 AA484668;ABBA01075562;AC007002;AF252297;AK294814;AK294933;AK295683;AK313433;AMYH02004063;AW873673;BC069443;BC109205;CH471053;CR749631;DC308258;FJ467289;NG_007957;NM_001277742;NM_019885;XM_005264433 AAF76003;AAH69443;AAI09206;AAY14690;ACR19332;BAG36224;BAH11892;BAH11930;BAH12154;CAH18425;EAW99761;NP_001264671;NP_063938;Q9NR63;XP_005264490 Hs.91546 2114824 SGC32318 CYP26A2;DKFZp686G0638;MGC129613;P450RAI-2;P450RAI2;RHFCA OTTHUMP00000160175;cytochrome P450 26A2;cytochrome P450 26B1;cytochrome P450 CYP26B1 variant 2;cytochrome P450 retinoic acid-inactivating 2;cytochrome P450 retinoid metabolizing protein;cytochrome P450, subfamily XXVIB, polypeptide 1;cytochrome P450RAI-2;retinoic acid-metabolizing cytochrome APPROVED protein-coding ENSG00000003137 HGNC:20581 05550 605207;614416 REVIEWED 1605811 CYP27C1 cytochrome P450, family 27, subfamily C, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008] 2 2 2 q14.3 121253198 121275097 - 127941412 127977654 - 127183836 127206176 - 6480464 12477932;15128046;20707712;21890473 339761 Q4G0S4 ABBA01040213;ABBA01040214;ABBA01040215;AC110926;AK131190;AMYH02004730;BC039307;CH471103;NG_007986;NM_001001665;XM_006712483 AAH39307;BAD18388;EAW95308;EAW95309;EAW95310;NP_001001665;Q4G0S4;XP_006712546 Hs.407639 5015404;5015881;5020946;5024413 GDB:335751;L17705;L17877;L17971 FLJ16008 OTTHUMP00000203833;OTTHUMP00000203834;cytochrome P450 27C1;cytochrome P450, family 27, subfamily C, polypeptide 13 APPROVED protein-coding ENSG00000186684 HGNC:33480 13360 REVIEWED 69201 CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008] 12 12 12 q14.1 57813712 57818571 - 58156117 58160976 - 57762334 57767193 - 1600874;734871;1580863;2307312;2307310;2307313;2307311;2307322;2307324;2307321;6480464;6907045;7240710;8554872;8699517 11416220;1328752;17223345;17606874;18476984;3295473;3348368;6282936;9486994 10320521;10359826;10566658;11799066;12039697;12050193;12050281;12107095;12137802;12161526;12386916;12457456;12477932;12496369;12520522;12746631;12855575;14671156;15225751;15243130;15296474;15331405;15342556;15583024;15589699;15795327;15934135;15947108;15951480;15956353;16061850;16549446;1662663;16720713;1690216;17023519;17079137;17207990;17207994;17236759;17250953;17254772;17267208;17287116;17368179;17395559;17395703;17426122;17488797;17878529;17932346;18495603;18676680;18689381;18767073;18767934;18768522;18843020;19064572;19154546;19170196;19219539;19255064;19343046;19453261;19454612;19505920;19524013;19525955;19625176;19667158;19706847;1971995;19783860;19852851;19891555;19913121;19951419;19966181;19998245;20007432;20082271;20152900;20304056;20453000;20518841;20534770;20619365;20628086;20648053;20654748;20687218;20701904;20809279;20831823;20847308;20877624;21107545;21145801;21440908;21441443;21542014;21833088;21869486;22190362;22326730;22443290;22446158;22511602;22516854;22547098;22588163;22612324;22963605;22995334;23045480;23063903;23149444;23286944;23334593;23423976;23444327;23483640;23614044;23894780;24029861;24245571;24308945;24371450;24471562;24576880;24643654;9282826;9295274;9333115;9344864;9415400;9428799;9837822 1594 F8VWR7;O15528;V9GYP0 AB005038;AB005989;AB005990;AB006987;ABBA01026694;AC025165;AF020192;AF027152;AF072470;AF246895;AF256213;AF500480;AK314953;AMYH02026593;AW449645;AY288916;BC001776;BC020267;BC136386;BP296031;CH471054;DQ925362;DQ925363;DQ925367;DQ925368;DQ925369;DQ925370;NG_007076;NM_000785 AAC51853;AAC51854;AAD38325;AAF64299;AAG00416;AAI36387;AAM21669;AAP31972;BAA22656;BAA22657;BAA23416;BAA23418;BAG37458;EAW97067;NP_000776;O15528 Hs.524528 1848538;2141843 A007H24;RH48116 CP2B;CYP1;CYP1alpha;CYP27B;P450c1;PDDR;VDD1;VDDR;VDDRI;VDR 1alpha(OH)ase;25 hydroxyvitamin D3-1-alpha hydroxylase;25-OHD-1 alpha-hydroxylase;25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial;OTTHUMP00000243864;VD3 1A hydroxylase;calcidiol 1-monooxygenase;cytochrome P450 subfamily XXVIIB polypeptide 1;cytochrome P450C1 alpha;cytochrome P450VD1-alpha;cytochrome p450 27B1 APPROVED protein-coding ENSG00000111012 HGNC:2606 02031 264700;609506 REVIEWED 1352512 CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 38394537 38402261 + 41594356 41602100 + 41088451 41096195 + 1580863;6480464;6907045;8554872 10353262;11016631;12130698;12721789;12920161;14633739;15063809;15115698;15128046;15196988;15222883;15333516;15618722;16316926;16835796;17428784;18669584;19290787;19303722;19343046;19414505;19789190;19812523;20431511;20534012;20568895;20798279;20846153;21473878;22315333;22397853;22696418;22700965;22798551;22890016;23463547;23583631;23602888;23752126;23907605;23917075;24114584;7581481;7668294;8587134;8889548;9890157 1553 Q16696 ABBA01040797;AC008962;AF209774;AMYH02036127;AY513604;AY513605;AY513606;AY513607;AY513608;AY513609;BM975825;CH471126;NG_007928;NM_000766;U22028 AAB40519;AAG35775;AAI48423;AAI53001;AAR90935;AAR90936;AAR90937;AAR90938;AAR90939;AAR90940;EAW57016;NP_000757;Q16696 Hs.567252 1684770 RH80817 CPAD;CYP2A;CYPIIA13 cytochrome P450 2A13;cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13 APPROVED protein-coding ENSG00000197838 HGNC:2608 07454 608055 REVIEWED 6480952 CYP2C115P cytochrome P450, family 2, subfamily C, polypeptide 115, pseudogene 10 10 96665655 96665890 + 94905898 94906133 + 100874513 ABBA01021845;AL133513;AMYH02023577;NG_032714 CYP2C9-de1b pseudo HGNC:42405 INFERRED 1350022 CYP2B cytochrome P450, family 2, subfamily B 1554 HGNC:2614 614546 1322740 CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q24 90183344 90236039 + 96443251 96495947 + 94683494 94736190 + 1580863;6480464;6484113;6907045;8554872 10487415;10704292;10768437;11093772;12378636;12477932;12694732;1306110;15128046;15164054;15302935;15319333;15489334;16359177;16385451;17048007;17207965;1896026;19038035;19074885;19204726;19290787;19578179;19706858;19751749;19958090;20045989;2009263;20453000;20529763;21163940;21798861;21988832;23755828;7704034;8095407;8110777;8125298;8333835;9028867;9154796;9797707;9890157 1562 P33260;Q7Z348 ABBA01021846;AK223510;AK308558;AK313403;AL157835;AL583836;AMYH02023576;BC069666;BC096257;BC096258;BC096259;BC096260;BJ993698;BX538127;CH471066;L16876;M61853;M61856;NG_008373;NM_000772;NM_001128925;X56452 AAA02630;AAB59356;AAH69666;AAH96257;AAH96258;AAH96260;ADQ31959;BAD97230;BAG36199;CAA39833;CAD98029;EAW50024;NP_000763;NP_001122397;P33260 Hs.511872 2135451;2167213 D4S1512;RH2 CPCI;CYP2C;CYP2C17;DKFZp686I24235;P450-6B/29C;P450IIC17 (S)-mephenytoin hydroxylase associated cytochrome P450;CYPIIC18;OTTHUMP00000020131;cytochrome P450 2C18;cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 17;cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18;cytochrome P450-6B/29C;flavoprotein-linked monooxygenase;microsomal monooxygenase;unspecific monooxygenase APPROVED protein-coding ENSG00000108242 HGNC:2620 03085 601131 REVIEWED 6480940 CYP2C59P cytochrome P450, family 2, subfamily C, polypeptide 59, pseudogene 10 10 96767155 96767322 - 95007398 95007565 - 100874505 ABBA01021844;AL359672;AMYH02023578;NG_032713 pseudo HGNC:42406 INFERRED 5144728 CYP2AB1P cytochrome P450, family 2, subfamily AB, polypeptide 1, pseudogene 3 3 3 q27.1 182057029 182072064 - 183613688 183628724 - 183895900 183910936 - 647265 ABBA01058468;AC068644;AMYH02008298 pseudo HGNC:39975 MODEL 1346751 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 38297361 38324463 + 41497138 41524308 + 40991243 41018398 + 1580863;5129544;6480472;6480464;6907045;8551791;8554872 12971802;19144407;22155227 10037683;10471061;10768437;11243870;11298076;11353758;11470993;11602525;11991950;12207635;12242601;12439223;12477932;12490624;12571232;12629583;12642465;12721789;12738724;12814665;14515060;14977870;15039299;15057824;15128046;15178651;15190123;15194512;15248218;15284537;15319333;15383491;15469410;15563456;15572372;15622315;15825040;15864119;16116487;16125881;16183265;16267764;16338275;16392089;16433869;16495778;16506047;16538176;16623664;16772608;16815693;16912957;16951995;17015050;17047492;17054410;17178267;17223085;17235330;17329992;17352764;17356468;17391322;17407229;17455229;17465455;17502835;17559344;17638512;17654295;17682072;17885627;17900275;17918089;18004205;18024866;18057928;18090046;18171905;18223457;18281305;18287571;18303024;18332083;18356043;18496131;18621926;18728241;18784455;18839779;18854779;18978480;18979093;18989234;19005482;19029318;19074885;19076156;19106084;19124658;19218571;19225447;19228205;19239339;19282874;19290787;19343046;19371316;19376514;19414633;19425200;19433561;19464434;19467232;19474465;19474786;19486190;19531981;19593168;19651758;19659438;19682083;19693007;19696793;19702527;19704172;19779319;19797611;19812066;19833192;19916993;19926050;19944064;20017669;20079471;20089352;20096935;20136364;20137387;20173083;20179710;20307138;20338069;20350955;20361990;20418888;20459744;20517174;20529763;20583967;20602615;20610889;20622021;20624854;20625352;20639527;20642445;20662624;20668445;20677014;20696882;20720517;20723261;20734064;20841522;20860463;20861742;20876786;20878158;20881953;20952238;20952418;20966044;20970553;21108329;21156812;21158011;21169260;21486104;21694616;21715435;21741706;21746968;21790905;21821736;21886015;22232427;22281205;22397853;22462748;22471906;22519658;22680342;22685215;22815312;22909231;22936314;22942317;22950382;2308828;23238783;23249875;23254426;23288240;23298916;23344581;23399569;23418033;23524664;23539296;23550066;23615745;23687222;23746185;23774940;23824676;23837472;23846872;23886699;23970651;24128861;24260284;24293093;24445070;24885815;2573390;2813061;2899870;7668294;8432525;8587134;9179987;9890157 1555 M0QZJ2;P20813 ABBA01040795;ABBA01040796;AC011541;AC023172;AF081569;AF182277;AK301620;AMYH02036127;BC067430;BC067431;CH471126;DQ298753;M29874;NG_007929;NM_000767;X06399;X06400;X13494;XM_005258569;XM_006723050;XM_006723051 AAA52144;AAD25924;AAF13602;AAF32444;AAH67430;AAH67431;ABB84469;BAG63105;EAW57015;NP_000758;P20813;XP_005258626;XP_006723113;XP_006723114 Hs.1360 1688302;1739527;5015881;5016478;5020948;5022200;5037552;5118250 D11S3159;D19S815;D8S2279;G35510;GDB:335751;GDB:434012;L18426;RH80275 CPB6;CYP2B;CYP2B7;CYP2B7P;CYPIIB6;EFVM;IIB1;P450 1,4-cineole 2-exo-monooxygenase;cytochrome P450 2B6;cytochrome P450 IIB1;cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6 APPROVED protein-coding ENSG00000197408 HGNC:2615 00477 123930;614546 REVIEWED 1352043 CYP2D7BP cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 7b (pseudogene) q13.2 1358797 1566 NG_000853;X58468 1682289;1770869 RH27796;STS-M33189 CYP2D7AP APPROVED pseudo INFERRED 1352907 CYP2D7P2 cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2 1358797 1567 NG_005574;X58467 CYP2D7AP;CYP2D7BP pseudo HGNC:2627 1606589 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 10 10 10 q23.33 90537664 90570382 - 96796529 96829255 - 95036772 95069497 - 2316509;2316977;5129544;6480464;6907045;7240710;7364964;7243146;7243143;8554872 12971802;17253883;17353665;18769365;20495177;23118328 10487415;10704292;10768437;10874126;11668219;12429347;12435384;12477932;12756196;12756206;12920163;12936704;14534525;14646690;14676196;15028279;15039299;15074466;15128046;15289789;15319333;15469410;15469873;15606441;15716363;15785959;15864120;15901749;15933212;15961978;16025294;16141797;16164496;16202848;16253141;16299241;16359408;16372821;16385451;16390351;16475901;16538176;16646575;16856883;16957870;17048007;1707679;17175891;17178266;17224914;17241877;17373732;17429317;17558302;17627038;17635176;17670841;17701008;17913794;17923851;17925548;17975119;18216720;18303964;18413310;18496133;18548238;18574320;18594024;18619574;18694831;18779360;18992346;19023099;19064572;19074885;19129086;19143748;19290787;19339270;19343046;19381162;19415824;19460752;19470925;19480553;19504558;19651758;19706858;19761371;19773535;19833260;19913121;19935798;19954515;20013305;20031551;2009263;20136364;20173083;20190184;20212519;20214592;20368717;20375710;20379614;20389299;20436375;20437850;20523106;20529763;20602612;20602615;20628086;20665013;20808793;20848147;20857895;20890775;20970553;21047199;21054465;21059750;21081644;21163940;21173785;21214863;21245287;21270106;21375401;21685474;21697463;21697548;21778352;21791871;21798861;21838784;21977947;22027337;22028317;22028915;2216732;22242967;22313047;22339777;22491019;22527101;22542470;22625877;22723340;23118231;23171856;23307233;23336573;23413280;23426382;23755828;24057671;24088129;24288737;24458713;2729895;3196692;3500169;3697070;7574697;7704034;7841444;8530044;8870687;9586955;9797707;9842986;9890157 1558 B7Z1F5;E9PIW6;E9PLI9;F5H7Q9;G3V188;P10632 ABBA01021841;AK292753;AK293327;AK293328;AK298401;AK303813;AK315823;AL359672;AMYH02023578;AMYH02023579;AY514490;BC020596;CD014119;CH471066;M17397;M17398;M21941;M21942;NG_007972;NM_000770;NM_001198853;NM_001198854;NM_001198855;X51535;X54807;Y00498 AAA35739;AAA35740;AAA52160;AAA52161;AAH20596;AAR89907;ABM82326;ABM85505;BAF85442;BAF98714;BAH11491;BAH11492;BAH12777;BAH14057;CAA35915;CAA38578;CAA68550;EAW50016;EAW50017;EAW50018;NP_000761;NP_001185782;NP_001185783;NP_001185784;P10632 Hs.709188 1678899;2180560 RH69099;RH79997 CPC8;CYPIIC8;MP-12/MP-20 OTTHUMP00000020134;OTTHUMP00000233373;P450 form 1;cytochrome P450 2C8;cytochrome P450 IIC2;cytochrome P450 MP-12;cytochrome P450 MP-20;cytochrome P450 form 1;cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8;flavoprotein-linked monooxygenase;microsomal monooxygenase;s-mephenytoin 4-hydroxylase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000138115 HGNC:2622 03083 601129 REVIEWED 1346997 CYP2D7P cytochrome P450, family 2, subfamily D, polypeptide 7, pseudogene This pseudogene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. It is possible that, in rare cases, a combination of two SNPs in this gene may result in an open reading frame encoding a functional enzyme which metabolizes codeine to morphine. This locus is part of a cluster of cytochrome P450 genes on chromosome 22q13.1. [provided by RefSeq, Jul 2008] 22 22 22 q13 26342407 26346769 - 42536214 42540575 - 42140203 42144574 - 6480464 12171760;12477932;1358797;15051713;15128046;16169517;16400609;17494644;2574001 1564 F5H6E7 ABBA01055664;ABBA01055665;AC254562;AK308043;AL021878;AMYH02038455;AY220845;BC108679;BX247885;M33387;NR_002570;X58467 AAO49806 Hs.333497 1682289;1770869 RH27796;STS-M33189 CYP2D;CYP2D7;CYP2D7AP;CYP2D7P1;CYP2D@;P450C2D;P450DB1 APPROVED pseudo ENSG00000205702 HGNC:2624 13108 VALIDATED 1347013 CYP2B7P cytochrome P450, family 2, subfamily B, polypeptide 7, pseudogene INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 19 19 19 q13.2 38230298 38256691 + 41430170 41456565 + 40924265 40950660 + 6480464 12477932;15128046;17885627;2573390;7668294 1556 Q14097 ABBA01040794;AC008537;AC092071;AK307933;AK310944;AMYH02036127;BC041174;DQ198366;DQ198367;M29873;NR_001278 ABB05542;ABB05543 Hs.529117 1669248;1739527;2153366;5016478;5020948;5037552;5118250 D11S3159;D19S1089;D19S815;D8S2279;G35510;GDB:434012;RH11435 CYP2B;CYP2B7;CYP2B7P1 APPROVED pseudo ENSG00000256612 HGNC:2616 PROVISIONAL 1606588 CYP2D8P cytochrome P450, family 2, subfamily D, polypeptide 8, pseudogene 22 22 22 q13.2 26351987 26357294 - 42545874 42551097 - 42149883 42155091 - 15128046;2574001 1568 ABBA01055665;AC254562;AL021878;AMYH02038455;BX247885;M33387;NG_000854 1729201;1745717 GDB:190916;GDB:632773 CYP2D8P1;CYP2DP1 APPROVED pseudo HGNC:2628 INFERRED 737416 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008] 10 10 10 q24 90262555 90352777 + 96522463 96612671 + 94762706 94852914 + 1580863;1357962;1300048;5129544;6480464;6907361;6907045;7240710;8699517;8554872 10879814;12971802;22170007 10022751;10233205;10411572;11037802;11076863;11207032;11240980;11263781;11372584;11474773;11686476;11713950;11763000;11773867;11785712;11791894;11829201;11836688;11865668;11908757;11927837;11950794;11956668;12047484;12121503;12130704;12142727;12171978;12172336;12222750;12235924;12360109;12386647;12419832;12445035;12464799;12468438;12477932;12496751;12534411;12623762;12642692;12656699;12698310;12732844;12809821;12823155;12835613;12879168;12900870;12900872;12919183;12950145;12963435;12975335;13680037;14520122;14583683;14616425;14634042;14634838;14636465;14653835;14659971;14695703;14990013;14998561;15017629;15025747;15039299;15068562;15090156;15119530;15128046;15145965;15164054;15171646;15177309;15205367;15222046;15248218;15284537;15285851;15301728;15319333;15327595;15349706;15371981;15385836;15385837;15447734;15448955;15469410;15496639;15499191;15569425;15590749;15608563;15612662;15639978;15651900;15660966;15662508;15680923;15691303;15691505;15715938;15752376;15776277;15813658;15842554;15855721;15856433;15903128;15932363;15952098;15963082;15963095;15976989;16006997;16012079;16021435;16024198;16025294;16048566;16116487;16133961;16141610;16183265;16198656;16220110;16231968;16232205;16236141;16239354;16261363;16267764;16268979;16307177;16338275;16338278;16338280;16401082;16413245;16487224;16487225;16595916;16638864;16641871;16740190;16771603;16772608;16783561;16789993;16812949;16815315;16815316;16855453;16862439;16863547;16873909;16890574;16890578;16908943;16911688;16912869;16924387;16937451;16946555;16960452;17003844;17047431;17047492;17048007;17052843;17112810;17178267;17201743;17203292;17215846;17269966;17279092;17290075;17295875;17298483;17304159;17357148;17358097;17377957;17407229;17410461;17417917;17418993;17424941;17433262;17439410;17450472;17455109;17487889;17502835;17504998;17559380;17562299;17623107;17625515;17635176;17635181;17666363;17667801;17667959;17680025;17681590;17697139;17697203;17827141;17868191;17875119;17900275;17909762;17922881;17924835;17934830;17966194;17978853;17992535;18004210;18021343;18024866;18057705;18061941;18154472;18205890;18211619;18214455;18223462;18224311;18231117;18240903;18240905;18241283;18241287;18294333;18312490;18319058;18323861;18346178;18356043;18382661;18394438;18399167;18423013;18425152;18466100;18482659;18496131;18496682;18510611;18511451;18518848;18520596;18520598;18521743;18532997;18551037;18577829;18581106;18637061;18641551;18644391;18654768;18676680;18677622;18702650;18751689;18765869;18781853;18823430;18854779;18854824;18936436;18957504;18979093;18982321;18996102;19002442;19025845;19029318;19033450;19038035;19069365;19074885;19102714;19106083;19106084;19108880;19129087;19136640;19139162;19151603;19156902;19164093;19166419;19169185;19170196;19172254;19176055;19192051;19193675;19193970;19199010;19219744;19220726;19236548;19238367;19246508;19259653;19261446;19268736;19290787;19299322;19336370;19337788;19343046;19348299;19350405;19398604;19404631;19407662;19414633;19415745;19415824;19424794;19429918;19430176;19474452;19496924;19499406;19516253;19531897;19534586;19546880;19552744;19576320;19578179;19583677;19593158;19593168;19617466;19621685;19624462;19625176;19636337;19638460;19651758;19661214;19692168;19693007;19696793;19702490;19706858;19712984;19745563;19751749;19761366;19773541;19817997;19821196;19823875;19840783;19841156;19847408;19881258;19884907;19890215;19891553;19904250;19907421;19926050;19928008;19932784;19933691;19934793;19940233;19942749;19954515;19954746;19956635;19961004;19968574;20002085;20015960;20040040;20064729;20078610;20083681;20088379;2009263;20113968;20147896;20163283;20173083;20179710;20206639;20207952;20223877;20235787;20236133;20297661;20309015;20349052;20350051;20350136;20351750;20356512;20358205;20360782;20373852;20376628;20390258;20414645;20430047;20457439;20460345;20468063;20492431;20492467;20492469;20499227;20510210;20528170;20529763;20531370;20533108;20549256;20549497;20559522;20565970;20573087;20581929;20602612;20602615;20620727;20633187;20637959;20650435;20665013;20669013;20673183;20679960;20684753;20708365;20716239;20716514;20724801;20801494;20801498;20804307;20823393;20826260;20831535;20831536;20831548;20833683;20838991;20845077;20845310;20857895;20863179;20885015;20890775;20924183;20926021;20941486;20965456;20970553;20976881;20978260;20979470;21038076;21047200;21054462;21054464;21071160;21075428;21079055;21099121;21108329;21108610;21132257;21152987;21160212;21173785;21192344;21212520;21215696;21237322;21247447;21299635;21302482;21315147;21332417;21358751;21380557;21473286;21497341;21507170;21511217;21511219;21527445;21627593;21628721;21689142;21692828;21741706;21766908;21777277;21778720;21786436;21794898;21795468;21798861;21803320;21806387;21826689;21831410;21861665;21862109;21887904;21913914;21913948;21916910;21971440;21972404;21977947;22007612;22028352;22030270;22045970;22070512;22071359;22088240;22116003;22118006;22122271;22123356;22154242;22180071;22183943;22228204;22281205;22304323;22318618;22324425;22374717;22377481;22418828;22425806;22450429;22469723;22476388;22491019;22552318;22585284;22589111;22591668;22612904;22624833;22641027;22648560;22704413;22747643;22785462;22839512;22855348;22873740;22875498;22875511;22913530;22929815;22940005;22955794;22971905;22974728;22984423;23001453;23016454;23074110;23081704;23118231;23148634;23175667;23179471;23193974;23257377;23267857;23337798;23340030;23364775;23402725;23412869;23413279;23429358;23469989;23470885;23474843;23506580;23517020;23551241;23555019;23556336;23588332;23607088;23618682;23623526;23640828;23645039;23646118;23700873;23736997;23754447;23755828;23785064;23793025;23850318;23872648;23874401;23886632;23895809;23941071;23951298;23959307;23981380;24015291;24016178;24019397;24022708;24080149;24080325;24088005;24088578;24089073;24113215;24151801;24169346;24222221;24279856;24315317;24330577;24340040;24346747;24403552;24492587;24501942;24510350;24519754;24576527;24599773;24690327;24723553;24761684;24796765;24945780;24946154;24952855;24996380;25001880;25001882;25008027;25030528;25043069;25044100;25060201;25061471;25068772;25073096;25077812;3442670;7704034;7969038;8095407;8110777;8195181;8530044;8647857;8894508;9103550;9398194;9435198;9732415;9890157 1557 P33261;Q767A3 AB113829;ABBA01021845;AL133513;AL583836;AMYH02023576;AMYH02023577;AY796203;CB158473;CB161988;KF459664;KF459665;L39098;L39102;M61854;NG_008384;NM_000769;X65962 AAB59426;AAI11847;AAL31347;AAL31348;AAV41877;BAD02827;CAA46778;NP_000760;P33261 Hs.282409 1656220;1682712;1742215;1743661;1774883;2126313;5120668 D10S2360;GDB:193845;GDB:364113;GDB:364118;RH70868;RH80282;STS-L07093 CPCJ;CYP2C;P450C2C;P450IIC19 (R)-limonene 6-monooxygenase;(S)-limonene 6-monooxygenase;(S)-limonene 7-monooxygenase;CYPIIC17;CYPIIC19;OTTHUMP00000020132;S-mephenytoin 4-hydroxylase;cytochrome P-450 II C;cytochrome P450 2C19;cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19;cytochrome P450-11A;cytochrome P450-254C;cytochrome p450, subfamily iic (mephenytoin 4-hydroxylase);flavoprotein-linked monooxygenase;mephenytoin 4'-hydroxylase;mephenytoin 4-hydroxylase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding HGNC:2621 00486 124020;609535 REVIEWED 1317784 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008] 10 10 10 q24 90438533 90489263 + 96698350 96749486 + 94938593 94989391 + 1580863;2307148;2307150;2307149;2307152;2307153;2307154;2307151;2316977;2316509;5129544;6480464;6903918;6903909;6903940;6903915;6903939;6907045;7240710;7364965;7364964;8554872;8699517 11158222;12971802;15963101;16303885;16325295;16788382;16985032;17253883;17305793;17353665;17597710;17963417;18829737;19669737;21666702;23118328;8531418 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1559 P11712;S5RV20 ABBA01021844;ABBA01021845;AK289420;AK298458;AL359672;AMYH02023577;AMYH02023578;AY341248;AY702706;AY904366;BC020754;BC070317;BC125054;BJ993098;CH471066;D00173;L16880;L16883;M15331;M21939;M21940;M61855;M61857;NG_008385;NM_000771;S46963;XM_006717644 AAA52157;AAA52158;AAA52159;AAB23864;AAD13466;AAD13467;AAH20754;AAH70317;AAI25055;AAP88931;AAT94065;AAW83816;BAA00123;BAF82109;BAG60671;EAW50019;EAW50020;NP_000762;P11712;XP_006717707 Hs.282624 1648139;1660036;1742215;1853272;2126313;2217240 CYP2C9_3248;D10S2360;GDB:193845;RH45236;SGC35305;SHGC-33162 CPC9;CYP2C;CYP2C10;CYPIIC9;MGC149605;MGC88320;P450IIC9 OTTHUMP00000020135;cytochrome P-450 S-mephenytoin 4-hydroxylase;cytochrome P-450MP;cytochrome P450 2C9;cytochrome P450 PB-1;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000138109 HGNC:2623 03084 122700;601130 REVIEWED 1351527 CYP2F1 cytochrome P450, family 2, subfamily F, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 38420521 38434443 + 41620312 41634286 + 41114448 41128376 + 1580863;6480464 10383923;11827709;12477932;12598524;15128046;16883522;17327131;17943660;19343046;1974816;20198857;2045106;22232929;22397853;8432525;8587134;8619884;9539103 1572 H0YGI9;P24903 ABBA01040797;AC008962;AF372573;AK298082;AK316498;AMYH02036127;BC109056;BC109057;CH471126;J02906;NG_007930;NM_000774;XM_006723052;XM_006723053;XR_430190;XR_430191 AAA52156;AAI09057;AAL69652;BAG60369;BAH14869;EAW57017;EAW57018;NP_000765;P24903;XP_006723115;XP_006723116 Hs.558318 1754461;2125826;2217244 CYP2F1_2820;D19S986;SHGC-132734 C2F1;CYP2F;MGC126121 CYPIIF1;OTTHUMP00000235890;OTTHUMP00000235904;cytochrome P450 2F1;cytochrome P450, subfamily IIF, polypeptide 1;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000197446 HGNC:2632 00490 124070 REVIEWED 1350226 CYP2F2P cytochrome P450, family 2, subfamily F, polypeptide 2, pseudogene 19 19 19 q13.2 38124989 38133102 - 41324580 41332676 - 40818675 40826771 - 1300428 11827709 11692077;15128046 171427 ABBA01040792;AC008537;AF372495;AF372496;AF372497;AMYH02036125;NG_029339 1657986;1754461;2125826;2153014;2217244 CYP2F1_2820;D19S1055;D19S986;D20S755;SHGC-132734 CYP2F1P APPROVED pseudo HGNC:18851 INFERRED 736217 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 22 22 22 q13.1 26328694 26333076 - 42522501 42526883 - 42126499 42130881 - 1358549;1300401;1580863;2316977;5129544;5135288;5143944;5143945;6480464;7240710;7207226;8554872 12629505;12971802;14523622;17353665;19575027;19733976;20088379;3186722 10064570;10233205;10493260;10675100;11037800;11037802;11055624;11097351;11097352;11147929;11204351;11207030;11207032;11214775;11266079;11285084;11291049;11294012;11295783;11303596;11372584;11376189;11422605;11422615;11442888;11470994;11477317;11505218;11505219;11520401;11549206;11560558;11668217;11682257;11702057;11735606;11741249;11750286;11751440;11753271;11753272;11763000;11778144;11791895;11809184;11816009;11829201;11895912;11901361;11927839;11940091;12006905;12063626;12065557;12077255;12089164;12106691;12107620;12142727;12152006;12171760;12171978;12172215;12172336;12175908;12177686;12187002;12191703;12206675;12207635;12210290;12360109;12386645;12386646;12392820;12404686;12419832;12421483;12422998;12426523;12438554;12439227;12446689;12459840;12468438;12477932;12486288;12490310;12503836;12536989;12548461;12569554;12579870;12589966;12610741;12616663;12622923;12651805;12657030;12691769;12728976;12734765;12743673;12748560;12756206;12756210;12766554;12782969;12784098;12861292;12879168;12879776;12883230;12893130;12900870;12900872;12911679;12915955;12919180;12942225;12950145;12960748;12963435;13680033;14499311;14499440;14514498;14515061;14520122;14557687;14571354;14602525;14624403;14635107;14639062;14640293;14652703;14653957;14658041;14716707;14726620;14726986;14748763;14985156;14991823;15005635;15039299;15048614;15051713;15061826;15068562;15090156;15108188;15115913;15116051;15118351;15128046;15149890;15177309;15205367;15237854;15256524;15260906;15289790;15313161;15319333;15327587;15330195;15349705;15349706;15382273;15461802;15469410;15469888;15470329;15484318;15489334;15499201;15538128;15584944;15588859;15590749;15592325;15618665;15625333;15632378;15646732;15648054;15651900;15669884;15680923;15690482;15691505;15708542;15726636;15729081;15731591;15764408;15768052;15769360;15770075;15774926;15813658;15817819;15820320;15843230;15855722;15861039;15914211;15932952;15952058;15970126;15987423;16006997;16024198;16025294;16037945;16048566;16079496;16130179;16141609;16160620;16162505;16189709;16198657;16205777;16220080;16236141;16239355;16249913;16272752;16283274;16294366;16315032;16337409;16352597;16361630;16401082;16415111;16423440;16459354;16466686;16476126;16478753;16490169;16493615;16534507;16537246;16544144;16550211;16551910;16584388;16595916;16611538;16633140;16633141;16638736;16638864;16642541;16679388;16712791;16716118;1673290;16771603;16775389;16778723;16812949;16815318;16819548;16833023;16835697;16845507;16849011;16855473;16858124;16864175;16880622;16924387;16960721;17038884;17089107;17102541;17113562;17115111;17178267;17186005;17194620;17224713;17225875;17234366;17241532;17242628;17244352;17250723;17259947;17270484;17289397;17297618;17301689;17304721;17311358;17324244;17325735;17329852;17361124;17374963;17392730;17418993;17431033;17442289;17449559;17450472;17454842;17460029;17470523;17479406;17503978;17517247;17530572;17536768;17541883;17547692;17554527;17568504;17570739;17573783;17581325;17609736;17610534;17624022;17635181;17635183;17667795;17667959;17697394;17700359;17701031;17713466;17714084;17715206;17725248;17761971;17764479;17803873;17828532;17882159;17908053;17909762;17921051;17947222;17957765;17965519;17965522;17966194;17971818;17992535;18024866;18034624;18048313;18061941;18070221;18075468;18086475;18165569;18167502;18183034;18197300;18202841;18204346;18211048;18214456;18214849;18223460;18231117;18240905;18258609;18261353;18280655;18287869;18294285;18300942;18304900;18317231;18327668;18346175;18346782;18356043;18372530;18382661;18384443;18401578;18407954;18414197;18423013;18425152;18425996;18429752;18433425;18445827;1844820;18474629;18474679;18480698;18520596;18520597;18543297;18545991;18547414;18551040;18553077;18583979;18597648;18618215;18625943;18632250;18641553;18648788;18663559;18666237;18676680;18681789;18690546;18698000;18708991;18713907;18719619;18725510;18728242;18754843;18784265;18784654;18794098;18794105;18797858;18818748;18827765;18834373;18840375;18927241;18958918;18978520;18979093;18996102;19000552;19000940;19001559;19019335;19024387;19025845;19032724;19033450;19037197;19047159;19071885;19082882;19094446;19095219;19142106;19151603;19153830;19156902;19162321;19164093;19169185;19170196;19189210;19189212;19192051;19194367;19219744;19219857;19225771;19242697;19284319;19290787;19296901;19303860;19308365;19320528;19330589;19336370;19343046;19350405;19356055;19357842;19364831;19365402;19374513;19387424;19387994;19395173;19405050;19421167;19429471;19437119;19438707;19444434;19448135;19470220;19474452;19512959;19521114;19523031;19527514;19537956;19593158;19593168;19593180;19593802;19596663;19597703;19604081;19604084;19604091;19625176;19636337;19651758;19652678;19656108;19660006;19692168;19694742;19702490;19710640;19710642;19715474;19719813;19738170;19761369;19781968;1978251;1978565;19797609;19809024;19823875;19833260;19840783;19866496;19887477;19891553;19892789;19902987;19907421;19910717;19937844;19940985;19946748;19947517;19953095;19954080;19954746;19956635;19995332;19997080;20007670;20009880;20031551;20041956;20075642;20081063;20118554;20124171;20133509;20136364;20137387;20147896;20173083;20174590;20185366;20195825;20201714;20205348;20206139;20225176;20297661;20305604;20309015;20332423;20335142;20350136;20364044;20368706;20373852;20375710;20385997;20421845;20430047;20432045;20435235;20454926;20456744;20459744;20461808;20467479;20473659;20489028;20492431;20515869;20520586;20530222;20531370;20547595;20563569;20565970;20574415;20588073;20590587;20590588;20597905;20599499;20602615;20628863;20634891;20643254;20656020;20656072;20679960;20684753;20686235;20700584;20701904;20727252;20731819;20799519;20809362;20814331;20827267;20828547;20846929;20849243;20851451;20857895;20859244;20863179;20877299;20877302;20878561;20881950;20925579;20970553;21063774;21071160;21072184;21108610;21135868;21140323;21173786;21241245;21248727;21321564;21391885;21430657;21433154;21437611;21449914;21456632;21485696;21486104;21518482;21527579;21543662;21589866;21596874;21599570;21605066;21631295;21677335;21728792;21743374;21749835;21787170;21797939;21803659;21821735;21823108;21826689;21835244;21840870;21860550;21861665;21880792;21907728;21913948;21918425;21956465;21958961;21971440;21989258;22039821;22092298;22109568;2211621;22141351;22159753;22180068;22180372;22198443;22216145;22245658;22277677;22281432;22281720;22301406;22303032;22308038;22324840;22355045;22398969;22399238;22428763;22459173;22497725;22531512;22623212;22623266;22661184;22688624;22700965;22718526;22733239;22735900;22775532;22777153;22803153;22905959;22913530;22929407;22948856;22986607;22994728;23167378;23207012;23212934;23213055;23258538;23277250;23280482;23289191;23292115;23350374;23357843;23394389;23469064;23471717;23503455;23552177;23555934;23558964;23570465;23609392;23614566;23644254;23664723;23686417;23691026;23700791;23712329;23728524;23733622;23734807;23737191;23781139;23803265;23809878;23831869;23842856;23851570;23855716;23870808;23872830;23876819;23893861;23897164;23922954;23985325;24088126;24088129;24088226;24089073;24098545;24107805;24112176;24121619;24151800;24151801;24161632;24192122;24211060;24232670;24265036;24265353;24279852;24318876;24329187;24329190;24340040;24640604;2466049;24660534;2574001;3123997;3410476;7845481;7868129;7903454;7927337;7951238;8287064;8449513;8530011;8634695;8655150;8971426;9241659;9264312;9890157 1565 C1ID52;E7ENE7;H7BY38;P10635;Q5Y7H2 ABBA01055663;AC236040;AC254562;AK309600;AMYH02038455;AY545216;AY663390;BC066877;BC067432;BC075023;BC075024;BC106757;BC106758;BC126858;BX096000;BX247885;BX422592;CB124853;CH471095;CK032845;CR456430;DQ211353;DQ211354;DQ211355;DQ282144;DQ282145;DQ282146;DQ282147;DQ282151;DQ282152;DQ282153;DQ282154;DQ282155;DQ282156;DQ282157;DQ282158;DQ282159;DQ282160;DQ282162;M20403;M33189;M33388;NG_008376;NM_000106;NM_001025161;X07618;X08006;X16866;XM_005278354;XM_006724157;XM_006726317 AAA35737;AAA52153;AAA53500;AAH66877;AAH67432;AAH75023;AAH75024;AAI06758;AAI06759;AAI26859;AAS55001;AAU87043;ABB01370;ABB01371;ABB01372;ABB01373;ABB77895;ABB77896;ABB77897;ABB77898;ABB77899;ABB77900;ABB77901;ABB77902;ABB77903;ABB77904;ABB77905;ABB77906;ABB77907;ABB77908;ABB77909;CAA30807;CAG30316;CAK54644;CAK54943;EAW60492;EAW60493;NP_000097;NP_001020332;P10635;XP_005278411;XP_006724220;XP_006726380 Hs.333497;Hs.648256 1682289;1741993;1741995;1742973;1743129;1745717;1745719;1745721;1745723;1745725;1770869;5117969 GDB:187815;GDB:187817;GDB:222783;GDB:270292;GDB:632773;GDB:632777;GDB:632780;GDB:632785;GDB:632790;GDB:632800;RH27796;STS-M33189 CPD6;CYP2D;CYP2D7AP;CYP2D7BP;CYP2D7P2;CYP2D8P2;CYP2D@;CYP2DL1;CYPIID6;MGC120389;MGC120390;P450-DB1;P450C2D;P450DB1 OTTHUMP00000198705;OTTHUMP00000198706;cytochrome P450 2D6;cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2;cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2;cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2;cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2;cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6;cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing)-like 1;cytochrome P450-DB1;cytochrome p450 2d18;debrisoquine 4-hydroxylase;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000100197 HGNC:2625 00487 124030;608902 REVIEWED 1347954 CYP2G1P cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene ENCODES a protein that exhibits heme binding (inferred); iron ion binding (inferred); oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (inferred); INVOLVED IN oxidation-reduction process (inferred) 19 19 19 q13.2 38197246 38206180 + 41396731 41406413 + 40890826 40900508 + 6480464 11186129;14702039;15128046;18085818;8561797 22952 Q6ZSU1 ABBA01040794;AC008537;AF274763;AF274764;AF274765;AF274766;AF274767;AK127151;AMYH02036126;AMYH02036127;NR_040249;S80997 AAB35962;BAC86855;Q6ZSU1 Hs.738699 1338341 D19S223 CYP2G1;CYP2G2P;CYP2GP1 pseudo ENSG00000130612 HGNC:2633 601133 VALIDATED 1354467 CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. [provided by RefSeq, Jul 2008] 1 1 1 p31.3-p31.2 58647783 58681160 - 60358980 60392445 - 59893308 59926773 - 1625384;1625377;1625385;1625379;1580863;1625380;1625381;6480464;6907045;7243130;7243136;7243127;7243153;7243137;7243143 10779386;14766666;15190971;17126841;17286575;17429317;20118222;20495177;20501636;21742052;22260463;23155181 10065373;10405341;10681399;10828211;11901223;12386130;12477932;12737630;14575523;14702039;15128046;15256482;15361551;15466638;15489334;15861034;15864120;16008525;16182271;16202848;16842392;16957870;17162467;17327508;17470359;17475630;17638876;17705402;17979511;18004755;18216721;18219097;18303964;18496133;18675280;18729130;18769365;19105833;19290787;19420105;19448409;19550113;19576320;19578796;19615687;19823578;19851119;19913121;19923256;20140850;20173083;20379614;20480811;20597138;20628086;21030485;21059750;21642892;21988832;22028915;22232929;22731644;22761738;23474289;23647230;23661295;23684773;23696562;23959307;24021950;24023684;24058654;24278032;8631948;8913342;9048644;9187259;9570962 1573 P51589;Q9UN91 AB080265;ABBA01074645;ABBA01074646;AC113175;AF039089;AF144566;AF272142;AK055088;AK315387;AMYH02001108;AY426985;BC032594;CH471059;NG_007931;NM_000775;U37143;XR_246240 AAC50370;AAD30164;AAH32594;AAK63192;AAM44456;AAQ93356;ABM81788;ABM84943;BAB85489;BAG37780;EAX06611;EAX06612;EAX06613;EAX06614;NP_000766;P51589 Hs.152096 2171947 SHGC-74906 CPJ2 CYPIIJ2;OTTHUMP00000010550;arachidonic acid epoxygenase;cytochrome P450 2J2;cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2;flavoprotein-linked monooxygenase;microsomal monooxygenase APPROVED protein-coding ENSG00000134716 HGNC:2634 03159 601258 REVIEWED 1345007 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128168529 128180282 - 135340300 135352627 + 133527363 133539116 + 1580863;1626305;1626302;2313683;2313687;2313688;2313685;2313684;2313686;1626307;4892219;4892222;4892076;4892220;4889126;4142512;4892223;4892217;4892216;4892218;4892242;4892244;4892235;5147745;6480464;6907045;8552696;8552693 10049703;10679205;12534643;12700423;12743671;12883487;14593914;14606109;14698565;15665729;15928955;17049493;17081494;17442289;17950035;19352025;19404342;19406192;20392357;20514434;20595028;21094789;22998987;23462933;8667236 10620320;10731522;10741631;11051375;11104220;11191882;11198676;11207032;11236836;11259352;11263781;11275366;11305777;11331106;11377232;11389775;11406608;11410713;11422615;11503278;11520401;11535247;11535253;11641039;11675150;11696658;11697456;11700262;11701230;11719088;11746208;11748356;11751440;11756225;11766168;11774269;11776598;11782477;11798822;11802217;11815398;11854903;11869835;11895912;11907164;11911601;11960914;11964928;11966948;12010862;12047484;12055050;12063626;12080432;12115524;12172927;12198369;12211622;12351530;12355548;12365037;12376502;12376511;12397416;12403788;12452057;12454736;12460800;12469218;12477932;12490624;12540498;12548461;12552594;12554615;12561466;12563175;12569554;12579334;12601351;12668988;12705718;12707490;12710951;12718576;12718671;12721789;12732844;12738724;12739102;12759747;12760253;12767509;12771559;12774019;12777398;12777962;12777965;12813050;12824748;12824892;12851035;12860273;12883749;12915519;12939804;12940444;12960506;14499622;14500779;14510941;14527082;14535982;14578150;14634838;14646291;14661969;14669323;14681495;14691069;14695651;14695664;14696128;14751678;14757192;14991750;15036355;15039299;15061915;15064998;15066574;15112335;15125228;15128046;15138035;15162526;15177663;15182482;15215328;15220553;15226677;15289170;15318112;15327835;15349722;15355699;15370874;15469410;15491310;15519646;15532721;15536330;15632182;15633127;15640066;15646021;15660387;15680923;15712341;15714076;15734972;15753073;15763499;15769360;15774926;15780023;15793883;15849806;15899651;15902904;15914211;15914277;15938845;15952134;15961886;15968714;15991278;16006997;16019049;16039674;16043197;16052683;16125881;16126235;16137184;16142352;16172237;16235983;16235992;16253141;16311924;16324524;16337880;16365683;16372174;16380384;16385451;16393248;16401082;16424825;16425414;16440362;16459354;16470306;16471212;16484137;16488179;16497268;16535827;16551616;16600530;16634857;16679316;16720291;16721740;16758119;16770646;16834659;16837478;16841220;16962935;16985026;16985032;17007050;17016589;17022435;17034788;17059334;17078101;17118447;17119198;17119944;17134659;17146594;17156750;17176083;17178637;1719479;17219769;17264406;17284772;17292341;17331164;17361553;17367411;17373732;17380320;17384900;17427487;17440116;17486761;17498780;17559142;17564586;17577619;17584020;17603900;17611777;17617119;17627011;17659824;17695473;1778977;17885617;17916905;17935737;17963298;17996038;18025800;18028774;18034693;18056994;18211048;18218609;18231117;18258609;18261353;18304215;18322963;18327668;18356043;18369917;18418580;18420361;18423013;18446064;18460770;18466102;18472009;18473182;18497573;18507060;18510611;18544910;18550589;18569579;18569587;18569591;18628434;18636124;18642288;18645668;18663376;18676680;18698632;18713495;18715838;18726416;18769766;18773092;18798002;18798003;18801337;18818195;18936436;18990750;18992148;19012698;19058336;19064572;19074885;19096130;19115622;19124503;19131562;19157621;19157724;19170196;19190172;19219744;19230487;19250143;19267064;19288740;19290787;19334053;19336370;19339548;19343046;19351467;19357030;19381774;19382518;19390575;19428381;19442564;19481674;19484729;19489076;19492240;19506726;19521675;19528831;19537956;19575027;19625176;19643819;19651758;19655364;19686770;19692168;19706845;19751749;19761367;19786980;19789190;19796841;19805575;19822571;19826048;19860798;19874574;19887496;19891553;19913121;19927646;19948975;19956635;19958676;19963114;19963139;20026093;20029944;20031389;20093049;20095411;20100563;20100738;20101753;20102722;20117323;20131310;20171022;20173083;20180013;20195803;20364586;20394984;20401433;20404016;20406102;20426969;20437058;20453000;20463018;20511665;20529763;20554493;20556843;20576306;20598484;20602615;20628086;20634891;20637790;20661821;20663217;20675267;20692331;20715111;20819434;20932821;20939108;20941486;20957336;20958328;20969746;21072184;21076874;21209460;21228414;21261721;21265876;21281483;21295098;21360299;21385088;21553050;21557999;21590276;21705789;21729529;21745589;21856753;21869556;21895718;21988832;22012226;22077825;22088806;22109568;22126492;22155602;22156006;22222162;22228187;22230367;22238121;22249978;22251540;22335459;22342293;22384697;22392284;22436864;22442693;22485222;22506592;22589738;22591346;22606226;22613106;22614694;22761909;22788240;22807108;22815852;22954124;22957075;22997752;23007992;23066397;23077626;23104821;23124075;23131254;23139769;23186213;23193974;23193996;23244081;23251661;23335995;23355335;23363738;23394127;23404349;23418369;23454624;23460870;23464483;23471973;23530020;23534720;23583009;23595220;23628324;23632049;23636797;23660503;23707663;23775837;23824954;23875638;23886179;23934444;23949201;24113184;24188272;24288753;24333271;24504680;24561005;24772508;25017831;2587619;3233219;3675576;3782137;7529759;7733943;7773503;8031147;8307581;8809087;9058590;9129165;9398194;9834965;9890157;9918138 1571 F5H694;H0Y593;H0Y7H4;H0YGV5;P05181 ABBA01006221;ABBA01006222;AC245077;AF084225;AF182276;AJ853939;AJ853940;AJ877238;AK290822;AL161645;BC067433;BC067435;BX951478;CH471211;D10014;D50111;DQ149222;DQ515958;J02625;J02843;KF459657;KF459659;NG_008383;NM_000773;S77873 AAA35743;AAA52155;AAD13753;AAD14267;AAF13601;AAH67433;AAH67435;AAZ77710;ABF47105;BAA00902;BAA08796;BAF83511;CAH69381;CAH69382;CAI47002;EAW61357;EAW61358;NP_000764;P05181 Hs.12907 1697818;1741545;1742367;1743155;1775501;1851795;2145078;2157762;2217242;5117570 CYP2E1_2771;D10S2350;D10S2410;GDB:181494;GDB:196492;GDB:277133;GDB:580696;RH102433;RH1572;WI-14945 CPE1;CYP2E;P450-J;P450C2E 4-nitrophenol 2-hydroxylase;CYPIIE1;OTTHUMP00000020813;OTTHUMP00000238612;OTTHUMP00000238613;cytochrome P450 2E1;cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1;cytochrome P450-J;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000130649 HGNC:2631 11813 124040 REVIEWED 1342679 CYP2T2P cytochrome P450, family 2, subfamily T, polypeptide 2, pseudogene 19 19 19 q13.2 38114808 38117705 - 41314400 41317297 - 40808495 40811392 - 11692077;15128046;20210993 171523 ABBA01040792;AC008537;AMYH02036125;NG_029340 2118954 D2S2863 APPROVED pseudo HGNC:18852 INFERRED 1314487 CYP2S1 cytochrome P450, family 2, subfamily S, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 38499270 38513599 + 41699115 41713444 + 41193210 41207539 + 1580863;6480464;8554872 11181079;12477932;12711469;12721789;12975309;14702039;15128046;15450424;15489334;17277313;17280660;17495422;17529885;19343046;19368491;19713358;21139048;21319273;21430234;22039172;22232929;22863683;23224081;23648403;7566098 29785 B4DJI0;M0QY51;M0QYI2;M0R057;M0R152;M0R2G8;Q96SQ9 AA316622;ABBA01040801;AC011510;AF335278;AK027605;AK296087;AMYH02036131;AY358603;BC033691;BX422464;CH471126;KC877736;KF459710;NG_007933;NM_030622 AAH33691;AAK13498;AAQ88966;ABM84289;ABM87680;BAB55227;BAG58842;EAW57019;EAW57020;EAW57021;NP_085125;Q96SQ9 Hs.98370 1683485;2110353 CYP2S1_2466;RH92207 CYPIIS1 cytochrome P450 2S1;cytochrome P450 family member predicted from ESTs;cytochrome P450, subfamily IIS, polypeptide 1;cytochrome P540, subfamily IIS, polypeptide 1 APPROVED protein-coding ENSG00000167600 HGNC:15654 07481 611529 REVIEWED 1342578 CYP2G2P cytochrome P450, family 2, subfamily G, polypeptide 2 pseudogene 19 19 19 q13.2 38356501 38368505 - 41556357 41568349 - 41050452 41062444 - 11186129;11692077;15128046 83757 ABBA01040796;ABBA01040797;AC008962;AF274755;AF274756;AF274758;AF274759;AF274760;AF274761;AF274762;AMYH02036127;NG_029337 CYP2G2;CYP2GP2 pseudo HGNC:15653 INFERRED 1348432 CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008] 11 11 11 p15.2 15026672 15040868 - 14899551 14913874 - 14878005 14892328 - 1580863;2315692;6480464;7240710;8554872;8699517 17607662 12464240;12477932;12867411;14702039;15128046;15128933;15465040;15489334;15583024;15951480;16600026;17223345;18476984;18511070;19783860;19852851;20007432;20418485;20541252;20619365;20654748;20809279;21270327;21441443;22576297;22583563;22801813;22855339;23047203;23063903;23190755;23377224;23734184;23793229;23826131;24073854;24245571;24732451 120227 E9PJT9;E9PS56;K7EMQ4;Q6VVX0 ABBA01061099;AC090835;AK092584;AK312019;AMYH02024361;AW138676;AY323817;AY800276;BC052580;BC104907;BC104909;BC111070;CH471064;NG_007936;NM_024514;XM_005252788;XM_005252789;XM_005252790;XM_005252791;XM_006718142;XM_006718143;XR_242777 AAI04908;AAI04910;AAQ23114;AAV65814;BAG34956;EAW68470;EAW68471;EAW68472;EAW68473;NP_078790;Q6VVX0;XP_005252845;XP_005252846;XP_005252847;XP_005252848;XP_006718205;XP_006718206 Hs.371427 1699168;1713499 RH103163;RH120233 MGC4663 OTTHUMP00000231476;cytochrome P450 2R1;cytochrome P450, family 2, R1;vitamin D 25-hydroxylase APPROVED protein-coding HGNC:20580 10569 600081;608713 REVIEWED 1351125 CYP2T3P cytochrome P450, family 2, subfamily T, polypeptide 3, pseudogene 19 19 19 q13.2 38440784 38443418 + 41640624 41643258 + 41134719 41137353 + 11692077;15128046 163007 ABBA01040797;ABBA01040798;AC008962;AMYH02036127;NG_029338 APPROVED pseudo HGNC:18853 INFERRED 68958 CYP3A cytochrome P450, subfamily IIA (niphedipine oxidase) INTERACTS WITH 1,2-dichlorobenzene; 1,4-dichlorobenzene; 17alpha-ethynylestradiol 6480464 1574 AF280107 1646413;1646859;1649345;1667177;1667428;1673475;1719171;1769182;1797466;1797468;2119951;2120055;2134102;2148288;2150104;2161343;5094036;7186369 A010B10;CYP3A43_1909;CYP3A4_2210;CYPNOA;D7S2832;D7S2874;D7S647;G33069;RH123304;RH45981;RH68186;RH71343;SHGC-16521;SHGC-1891;SHGC-33905;SHGC-35234;SHGC-36965;SHGC-8697 HGNC:2635 1316685 CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 6 p21.1-p11.2 48069986 48173038 - 46517317 46620567 - 46549580 46652830 - 1580863;6480464;6907045 10748047;11329013;12477932;15128046;15489334;19553612;20453000;21988832;24192117 51302 B7Z786;Q9NYL5 ABBA01050615;ABBA01050616;ABBA01050617;ABBA01050618;ABBA01050619;ABBA01050620;AF237982;AK292263;AK301604;AK307986;AL035670;AL591242;AMYH02013685;AMYH02013686;AMYH02013687;BC010358;BC012548;BC034323;BG199773;CH471081;DC336695;NG_007962;NM_001278738;NM_001278739;NM_016593;XM_005249171 AAF63329;AAH10358;ABM83815;ABW03520;BAF84952;BAH13522;EAX04297;NP_001265667;NP_001265668;NP_057677;Q9NYL5;XP_005249228 Hs.387367 1669671;1683683;1686410;1700184;2117845;2177960;5109663 D6S1333;D7S2067E;RH103707;RH46727;RH65181;RH99104;SGC31026 24-hydroxycholesterol 7-alpha-hydroxylase;OTTHUMP00000016547;cytochrome P450 39A1;cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1;hCYP39A1;oxysterol 7-alpha-hydroxylase;oxysterol 7alpha-hydroxylase APPROVED protein-coding ENSG00000146233 HGNC:17449 07067 605994 REVIEWED 1319774 CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008] 4 4 4 q25 106147507 106169403 + 108852716 108874617 + 107931561 107953461 + 1580863;6480464;6907045;8699517;7240710;8554872 12107412;12477932;14660610;14975754;15128046;15588491;20301682;20332099;20630735;21707071;24337409;24563460 113612 B4E0A0;E9PGH5;Q7Z449 ABBA01063755;AC096564;AC114733;AK026498;AK290002;AK298989;AK303284;AK304724;AMYH02009879;AMYH02009880;AY343323;BC012027;BC132767;BC136483;BC144148;BU838483;BX354124;BX437421;CD672608;CH471057;NG_007961;NM_183075;XM_005262717;XM_005262720 AAH12027;AAI32768;AAI36484;AAQ21380;ADR83373;BAF82691;BAG61081;BAG64362;BAG65487;EAX06215;EAX06216;EAX06217;NP_898898;Q7Z449;XP_005262774;XP_005262777 Hs.109087 1644530;1664980;1848179;2147723;2170813;2182597 A006Y35;D4S3152;SHGC-18776;SHGC-50164;SHGC-59281;SHGC-59620 P450TEC;SPG49;SPG56 OTTHUMP00000219686;OTTHUMP00000219687;cytochrome P450 2U1;spastic paraplegia 49 APPROVED protein-coding ENSG00000155016 HGNC:20582 13109 610670;615030 REVIEWED 1313076 CYP2W1 cytochrome P450, family 2, subfamily W, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008] 7 7 7 p22.3 990578 996997 + 1020100 1029276 + 980464 989640 + 1580863;6480464 12477932;15128046;15489334;16426568;16677611;17979506;17998294;20602611;20805301;21988832;22591743;22631658;22993331;23897914;24088132 54905 A6NJ10;H7C015;Q8TAV3 ABBA01039315;AC073957;AK000366;AMYH02015037;BC025761;CH236965;CH471144;NG_007934;NM_017781;XM_005249792 AAH25761;BAA91114;EAW87186;EAW87187;NP_060251;Q8TAV3;XP_005249849 Hs.272795 MGC34287 CYPIIW1;OTTHUMP00000024500;OTTHUMP00000082705;cytochrome P450 2W1 APPROVED protein-coding ENSG00000073067 HGNC:20243 07901 615967 REVIEWED 6480935 CYP3A51P cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene 100874496 AC005020 pseudo HGNC:42418 1350489 CYP3A43 cytochrome P450, family 3, subfamily A, polypeptide 43 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 7 7 7 q21.1 94159885 94198421 + 99425636 99463727 + 99828013 99866104 + 1580863;6480464;6907045;8554872 11137287;11160876;11243885;11266076;11726664;12477932;12853948;14695544;14759258;15128046;15548719;15894682;16314882;16848237;18566991;19343046;19789190;20529763;20715157;21081028;21533175;9890157 64816 C9JA26;E7EMH4;E9PDL8;E9PG90;F8W6L8;Q9HB50;Q9HB55 AA417369;ABBA01013245;ABBA01013246;ABBA01013247;AC011904;AF280107;AF280108;AF280109;AF280110;AF280111;AF280112;AF280113;AF319634;AF337813;AJ563376;AJ563378;AJ563379;AMYH02016369;AY390423;AY390424;AY390425;AY390426;BC100981;BC100982;CH236956;CH471091;NG_007935;NM_001278921;NM_022820;NM_057095;NM_057096;NR_103868;NR_103869 AAG32291;AAG33009;AAG33010;AAG33011;AAG33012;AAG33013;AAG33014;AAI00982;AAI00983;AAK00325;AAK38841;AAQ92351;AAQ92352;AAQ92353;AAQ92354;AAS07394;AAS07395;CAD91644;CAD91646;CAD91648;EAW76630;EAW76631;EAW76632;EAW76633;EAW76634;NP_001265850;NP_073731;NP_476436;NP_476437;Q9HB55 Hs.306220;Hs.571258;Hs.728751 1797466 CYP3A43_1909 MGC119315;MGC119316 OTTHUMP00000209987;OTTHUMP00000209989;OTTHUMP00000209994;OTTHUMP00000210037;cytochrome P450 3A43;cytochrome P450 polypeptide 43;cytochrome P450, subfamily IIIA, polypeptide 43 APPROVED protein-coding ENSG00000021461 HGNC:17450 05942 606534 REVIEWED 1344932 CYP3AP1 cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 1 This locus represents a CYP3A pseudogene that is present within a cluster of CYP3A (cytochrome P450, family 3, subfamily A) genes on chromosome 7. This pseudogene is located between the CYP3A7 and CYP3A5 family members. It contains duplicates of exons 1, 2 and 13 that are found in the functional genes. Readthrough transcription exists between the CYP3A7 gene and this pseudogene, where the readthrough transcript includes CYP3A7 exons 1-13 and exons 2 and 13 of this pseudogene, as represented in GeneID:100861540. This pseudogene is not known to be independently transcribed. [provided by RefSeq, Feb 2012] 7 7 7 q22.1 94016887 94031987 - 99282647 99297743 - 99685024 99700120 - 6480464 11137287;12060534;15937338;16314882;17450472;19384171;20519697;20679960;7811260;7893755;8569713 1578 Q6KGV3 ABBA01013251;AC005020;AC069294;AF280107;AF315320;AF315321;AF315322;AMYH02016366;CH236956;L35912;NG_000856 AAG48617 1769182 SHGC-35234 CYP3A5P1 APPROVED pseudo INFERRED 1346597 CYP3A7 cytochrome P450, family 3, subfamily A, polypeptide 7 This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3AP1 pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Apr 2014] 7 7 7 q21-q22.1 94036903 94067071 - 99302660 99332853 - 99705037 99735196 - 1580863;6480464;6907045 10086328;10403778;10708604;10950848;11093772;11137287;11162490;11266076;11495920;11940601;12124305;12406645;12477932;12485945;12642469;12679136;12690205;12865317;12970323;14559847;14569421;14637191;15128046;15319333;15358113;15379787;15489334;1562592;15698577;15788369;15845858;15937338;15985487;16041241;16314882;16430309;16433896;16635807;17334880;17559345;17582393;17604264;17885626;17936930;18216722;18406467;18445661;18537580;18676680;18978522;19064572;19170196;19275551;19343046;19424794;19585271;19593168;19625176;19692168;19706729;19801957;19842932;20118548;20147896;20345875;20529763;20615193;20621111;20634891;20637317;22253426;22277676;22426036;23143891;23333304;2350547;24168324;2492179;2722762;2786707;7811260;7894497;8349787;8694864;8753820;8877031;9204410;9266706;9644715;9890157 1551 P24462 ABBA01013250;ABBA01013251;AC069294;AF280107;AMYH02016366;BC067436;BC069780;BX643367;BX647143;CH236956;CH471091;D00408;KF454904;KF459646;NG_007983;NM_000765 AAG32289;AAH67436;BAA00310;EAL23867;EAW76637;NP_000756;P24462 Hs.111944 1646413;1667177;1769182 SHGC-16521;SHGC-33905;SHGC-35234 CP37;CYPIIIA7;P-450(HFL33);P-450111A7;P450-HFLA OTTHUMP00000210472;OTTHUMP00000210473;aryl hydrocarbon hydroxylase;cytochrome P450 3A7;cytochrome P450, subfamily IIIA, polypeptide 7;cytochrome P450-HFLA;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000160870 HGNC:2640 05630 605340 REVIEWED 1352962 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam and erythromycin. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2011] 7 7 7 q21.1 94088849 94116044 - 99354583 99381811 - 99756960 99784188 - 1580863;2316977;2316509;5129544;5135288;5685415;5685598;5685600;6480464;6907361;6907045;7364965;7296923;8554872 12039987;12971802;15180491;17253883;17353665;17576808;18566305;19733976;21666702;22170007 10222036;10322772;10668853;10933049;11051261;11067821;11137287;11161840;11181494;11266076;11470997;11549683;11714865;11726664;11745731;11749050;11782366;11809184;11875366;11876753;11890939;11907494;11940601;11956645;11991950;12072427;12107441;12130689;12142725;12147248;12151999;12202670;12419838;12439220;12446983;12464248;12477932;12485945;12493773;12532467;12569554;12623762;12644831;12690205;12692107;12695546;12732844;12738724;12747609;12756206;12756210;12809821;12867495;12900870;12900872;12960109;12966368;12969965;12975335;1391968;14504207;14515058;14515059;14580164;14640293;14643022;14660173;14681232;14690448;14693733;14697480;14742674;15039299;15114431;15128046;15256616;15258162;15260917;15277015;15307840;15319333;15327587;15334674;15365656;15370963;15379787;15454728;15459178;15462611;15469410;15475069;15496535;15496639;15523087;15540736;15546903;15548719;15592326;15611481;15618745;15622315;15634941;15650881;15680923;15684873;15698606;15707415;15708356;15708542;15713537;15731117;15770073;15770075;15778453;15801936;15817670;15820320;15882469;15896485;15900215;15900284;15901749;15931768;15932952;15981231;16004554;16006997;16059671;16079101;16103451;16109480;16130011;16146556;16172230;16207150;16243813;16267764;16299241;16306861;16314882;16321621;16324277;16338276;16344560;16401082;16414488;16434211;16467307;16507515;16538176;16580902;16608838;16633141;16645157;16684709;16711396;16758258;16765145;16771603;16842392;16862439;16890574;16890579;16906020;16909599;16924387;16954191;16981844;16985250;17007050;17014074;17015051;17042920;17047492;17065585;17083953;17118447;17119944;17162468;17178267;17200113;17220347;17224914;17270371;17279585;17296590;17352764;17357589;17363580;17364054;17367411;17372239;17373732;17392393;17409981;17418993;17429319;17433262;17434921;17460031;17460547;17465708;17495874;17495878;17495880;17498886;17502835;17526062;17526937;17545536;17548528;17548691;17555301;17582393;17601520;17605821;17609736;17615053;17622974;17624028;17634410;17635182;17691855;17697139;17701008;17704997;17724065;17764444;17766366;17827338;17827444;17854673;17880367;17900275;17912464;17918187;17919092;17919884;17922881;17925385;17925548;17952011;17965521;17974099;17985934;17992531;18004209;18004210;18021343;18028890;18052847;18058330;18092806;18097620;18163429;18192894;18211048;18217151;18223457;18231117;18240903;18258609;18268015;18294295;18294936;18309947;18332045;18348473;18356043;18364084;18382661;18385010;18394438;18408564;18431572;18433425;18446064;18496131;18509327;18518855;18528690;18551040;18566991;18569587;18619574;18632753;18636247;18669585;18688081;18704002;18768784;18781853;18784074;18794335;18825162;18854779;18936436;18957504;18976975;18978522;18979093;18981009;18981011;18989234;18996102;19005401;19020497;19027952;19064572;19070657;19074750;19076156;19077426;19103148;19127255;19143748;19206087;19214745;19219744;19225447;19228205;19228751;19232333;19239339;19242060;19258929;19282874;19332043;19337788;19339270;19343046;19343062;19343327;19349540;19350405;19356113;19376514;19395426;19406954;19414505;19420105;19424794;19433561;19451401;19453261;19460945;19470925;19474452;19480557;19505920;19506580;19538885;19546880;19560436;19571438;19574343;19575027;19576320;19591893;19626470;19636001;19651758;19659438;19667110;19692168;19696793;19712670;19727863;19752211;19761365;19762492;19773538;19784640;19797609;19801957;19802823;19812066;19823875;19833260;19842932;19846565;19865079;19907160;19913121;19921206;19926050;19934400;19934793;19937844;19956635;19963139;20007670;20012430;20017669;20027111;20031551;20038391;20068078;20088394;20118548;20136364;20147837;20147896;20171174;20173083;20212519;20213484;20214802;20218903;20235787;20338069;20350051;20350136;20354687;20361990;20386561;20389299;20395213;20403997;20437850;20453000;20459744;20490798;20505544;20523106;20526235;20529763;20530282;20538049;20538721;20578904;20583967;20588308;20602612;20602615;20604570;20615193;20617557;20621111;20625352;20628086;20630055;20634197;20642445;20654748;20656072;20679960;20682687;20697309;20715157;20734064;20809279;20812728;20833683;20841961;20847137;20849814;20861742;20863320;20879989;20884258;20931330;20951982;20959500;20970553;21047202;21063236;21071160;21072155;21072184;21081028;21081644;21114969;21169260;21177853;21186373;21199372;21207936;21209460;21223952;21292004;21342487;21380731;21402137;21402692;21412247;21433154;21471209;21493872;21513075;21566342;21605066;21692828;21750466;21767526;21798277;21835977;21838784;21863748;21886157;21902501;21902502;21903774;21916909;21925256;21940338;21952236;21963990;21964586;21988832;21992114;21996064;21998292;22050110;22076448;22094027;22096084;22101235;22106171;22108774;22157006;22194603;22277676;22292071;22333269;22369694;22388796;22472546;22510778;22517972;22562045;22583563;22617232;22621802;22645092;22677141;22696420;22699155;22728071;22741198;22763214;22773874;22885098;22906825;22945461;22971138;22985909;22990330;22993851;23090875;23107770;23129512;23143891;23146479;23160340;23162896;23179402;23212742;23217392;23223499;23252948;23264496;23277250;23290512;23295386;23313934;23320986;23334403;23361102;23400261;23408444;23436703;23459029;23469989;23491640;23510058;23527115;23530020;23557865;23574760;23640974;23665933;23715232;23732298;23746300;23775837;23780963;23785064;23837477;23855261;23876819;23886699;23965431;23977680;23987740;24052064;24085358;24107805;24125961;24168324;24191259;24212380;24255116;24256945;24273886;24301608;24333052;24465960;24492588;2463251;24691060;2492107;25011215;3243766;3259858;3267210;3460094;3464943;3898085;8269949;9088578;9394023;9456308;9890157 1576 C9JBD2;E7EVM8;P08684;Q6GRK0 ABBA01013250;AC069294;AF182273;AF209389;AF280107;AF307089;AJ563375;AJ563376;AJ563377;AK298451;AK298462;AK312967;AMYH02016366;AMYH02016367;AY606313;BC069352;BC069418;BC101631;CH236956;CH471091;D00003;D11131;DA639071;DQ005611;DQ924960;J04449;M13785;M14096;M18907;NG_008421;NM_001202855;NM_017460;X12387 AAA35742;AAA35744;AAA35745;AAA35747;AAF13598;AAF21034;AAG32290;AAG53948;AAH69418;AAI01632;AAY16980;ABI96208;BAA00001;BAG35806;BAG60667;BAG60675;CAA30944;CAD91343;CAD91345;CAD91645;EAL23866;EAW76635;EAW76636;NP_001189784;NP_059488;P08684 Hs.728751 1646413;1646859;1649345;1667428;1797468;2119951;2134102 CYP3A4_2210;CYPNOA;D7S2832;D7S2874;RH68186;SHGC-16521;SHGC-36965 CP33;CP34;CYP3A;CYP3A3;CYPIIIA3;CYPIIIA4;HLP;MGC126680;NF-25;P450C3;P450PCN1 1,8-cineole 2-exo-monooxygenase;OTTHUMP00000210308;P450-III, steroid inducible;albendazole monooxygenase;albendazole sulfoxidase;cytochrome P450 3A3;cytochrome P450 3A4;cytochrome P450 HLp;cytochrome P450 NF-25;cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 3;cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4;cytochrome P450-PCN1;glucocorticoid-inducible P450;nifedipine oxidase;quinine 3-monooxygenase;taurochenodeoxycholate 6-alpha-hydroxylase APPROVED protein-coding HGNC:2637 00484 124010 REVIEWED 1342602 CYP3AP2 cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2 This locus represents a CYP3A pseudogene that is present within a cluster of CYP3A (cytochrome P450, family 3, subfamily A) genes on chromosome 7. This pseudogene is located between the CYP3A4 and CYP3A7 family members. It contains duplicates of exons 1 and 2 that are found in the functional genes. This pseudogene does not appear to be transcribed. [provided by RefSeq, Feb 2012] 7 7 7 q21.3-q22.1 94080117 94084359 - 99345872 99350114 - 99748249 99752491 - 11137287;11266076;16314882 79424 ABBA01013250;AC069294;AF280107;AMYH02016366;CH236956;NG_029328 CYP3A5P2 APPROVED pseudo INFERRED 6480933 CYP46A4P cytochrome P450, family 46, subfamily A, polypeptide 4, pseudogene 1 1 48555025 48555306 + 48089353 48089634 + 100874494 ABBA01050808;AL356289;AMYH02000979;NG_032510 pseudo HGNC:42349 INFERRED 730831 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates medium-chain fatty acids such as laurate and myristate. [provided by RefSeq, Jul 2008] 1 1 1 p33 45682030 45694343 - 47394846 47407156 - 46929174 46941484 - 1625451;1625567;1580863;6480464;6907045;8554872 12857783;16144986 10024026;10660572;10860550;11139583;11736898;11821421;12464261;12464262;12477932;15028279;15128046;15319333;15611369;16957555;1739747;18227405;18300855;18385420;18391101;18433732;18484194;18574070;18624398;18660489;18936345;19343046;19366684;19615687;19898482;20130494;21326303;21617944;21820496;21873888;21886157;21912424;22327816;22804341;23085321;23859711;24278241;24535879;7679927;7798189;8274222;8363569;8914854;9618440;9799565 1579 E7EVL8;Q02928;V9GY41;V9GYC6;V9GYK4;V9GYQ2;V9GZ77 ABBA01050834;AF525488;AK298267;AK298413;AL731892;AMYH02000967;AY369778;BC022851;BC041158;CD014132;D13705;D26481;L04751;NG_007932;NM_000778;S67580;S67581;X71480;XM_005270537;XM_005270538;XM_005270539;XM_006710392;XR_246241;XR_246242 AAA58436;AAB29502;AAB29503;AAH41158;AAO16078;AAQ56847;BAA02864;BAA05491;BAG60530;BAG60640;CAA50586;NP_000769;Q02928;XP_005270594;XP_005270595;XP_005270596;XP_006710455 Hs.1645;Hs.726474 1668714;1674438;1724397;1742975;1761149 GDB:226298;RH122360;SHGC-145153;SHGC-74786;SHGC-74787 CP4Y;CYP4A2;CYP4AII 20-HETE synthase;20-hydroxyeicosatetraenoic acid synthase;CYPIVA11;OTTHUMP00000009714;OTTHUMP00000009715;P450HL-omega;alkane-1 monooxygenase;cytochrome P-450HK-omega;cytochrome P450 4A11;cytochrome P450, subfamily IVA, polypeptide 11;cytochrome P450HL-omega;fatty acid omega-hydroxylase;lauric acid omega-hydroxylase APPROVED protein-coding ENSG00000187048 HGNC:2642 03201 601310 REVIEWED 6480934 CYP4A43P cytochrome P450, family 4, subfamily A, polypeptide 43, pseudogene 100874495 AL731892 pseudo HGNC:42417 1348646 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] 7 7 7 q21.1 93980042 94011861 - 99245813 99277636 - 99648190 99679998 - 1580863;5129544;5135288;5685603;5685614;6480464;6907045;6907361;7240710 12971802;16917230;19733976;20931330;22170007 10069460;10403825;11137287;11266076;11279519;11502729;11726664;11740341;11809184;11836601;12042671;12202670;12242601;12324482;12433824;12439220;12477932;12690205;12692107;12694732;12754175;12756511;12814460;12822676;12853948;12893984;12960109;12966368;12969965;12975492;14504207;14515058;14515059;14647405;14676821;14702039;14747421;14961555;15039299;15114431;15116055;15128046;15167702;15226679;15248218;15252010;15284534;15289787;15319333;15385835;15454734;15469410;15489334;15502717;15548719;15592326;15596297;15596575;15622315;15632378;15634941;15698606;15707415;15708542;15729180;15801936;15808586;15814280;15833928;15876487;15882469;15900215;15900284;15919447;15931768;15952872;15961978;15978331;15981231;16004554;16024008;16086282;16116487;16141800;16160620;16168193;16172230;16188140;16207150;16243813;16249748;16253141;16267764;16272171;16272955;16299241;16306861;16314882;16321621;16338276;16361630;16421475;16424824;16442753;16513443;16584389;16595916;16612255;16612333;16614106;16628701;16638864;16684709;16765145;16765147;16769602;16771603;16772608;16791115;16815317;16822233;16827636;16842392;16847425;16906018;16906020;17015051;17032130;17042920;17047492;17048977;17049058;17049128;17162466;17178265;17178267;17192506;17192769;17198275;17224914;17244352;17264302;17286792;17296590;17329995;17339868;17352764;17358097;17363580;17372036;17373732;17377957;17391324;17395652;17425754;17430486;17443134;17450472;17460031;17495880;17495881;17502835;17510208;17517050;17545536;17554244;17568575;17582393;17605821;17615053;17635176;17635181;17635182;17691921;17700595;17701008;17761709;17827141;17851225;17875118;17885626;17900275;17914095;17922881;17925548;17941052;17979504;17979523;17992026;18021343;18024866;18028890;18058330;18192894;18211618;18212618;18214455;18221820;18223457;18240903;18248681;18294295;18300941;18306354;18309947;18315786;18315894;18319058;18322448;18334918;18382661;18385010;18385991;18394438;18408564;18414696;18429967;18443548;18490434;18496128;18496131;18502461;18509327;18509328;18509645;18518855;18551040;18566991;18582803;18587567;18589174;18597650;18603015;18628519;18636247;18641551;18650247;18688081;18704002;18708991;18727922;18752284;18930278;18936931;18978522;18979093;18981009;18989234;18996102;19005401;19005461;19010156;19033450;19034006;19040121;19064572;19067682;19074750;19076156;19106083;19106084;19114346;19125240;19139162;19141860;19205682;19225447;19228205;19228751;19229255;19239339;19258929;19289993;19290787;19290795;19332043;19337788;19343046;19343327;19349540;19350405;19376366;19376514;19384171;19384264;19414505;19414633;19424794;19470925;19474452;19506580;19516253;19523815;19538885;19545678;19546880;19576320;19584153;19591893;19593168;19636001;19644155;19650988;19659438;19663817;19667110;19693007;19696793;19710077;19730841;19744012;19761365;19762492;19801957;19812606;19817997;19823770;19842932;19855314;19865079;19881258;19904021;19907160;19913121;19916993;19925383;19934793;19946748;20010459;20017669;20030680;20031551;20038391;20040338;20041908;20118548;20133509;20136364;20147896;20160155;20172323;20173083;20179710;20207952;20212519;20214802;20218903;20231858;20235787;20332423;20345875;20354687;20357698;20368718;20383212;20389299;20393454;20395213;20403997;20415563;20430047;20453000;20459744;20479955;20490798;20514078;20526235;20529763;20530282;20565970;20588203;20596503;20602615;20615193;20617557;20621111;20625352;20628086;20630055;20662624;20679960;20696882;20716514;20720558;20818295;20833683;20846929;20860463;20873239;20881953;20959405;20959500;20970553;20970601;20970628;20970643;21039054;21047202;21072155;21072184;21076384;21081028;21094057;21094796;21094797;21148251;21153923;21165655;21173786;21206424;21209234;21225912;21237140;21265876;21380731;21389905;21418106;21434577;21436775;21493872;21513075;21519338;21544031;21644845;21677300;21698374;21711429;21743379;21770725;21806386;21814220;21839244;21851254;21896346;21916909;21950641;21988832;22007612;22022918;22096084;22210422;22214815;22277678;22292071;22304537;22369694;22511346;22610055;22645092;22696420;22704849;22819265;22875663;22889968;22923690;22993851;23023417;23073208;23107770;23131698;23143606;23143891;23146466;23146479;23149441;23223499;23320986;23354298;23364483;23385102;23394475;23432535;23459029;23491640;23557865;23584898;23633119;23700791;23715232;23723360;23733010;23734777;23780963;23837476;23845965;23873120;23900887;23951129;23984379;24024898;24033383;24085358;24088129;24135442;24168324;24301608;24352002;24383873;24465960;24691060;24911663;2732228;2802615;7750548;7811260;7883227;7894497;7895614;8004129;8125298;8569713;8619878;8619884;8694864;8869826;8877031;8889549;8946469;9070608;9364212;9797707;9890157 1577 B7Z3P6;P20815;Q7Z3N0 AA076026;ABBA01013251;ABBA01013252;AC005020;AF280107;AF355801;AF355802;AF355803;AF355804;AJ563378;AJ563379;AK055879;AK223008;AK296205;AK299002;AK309166;AK313813;AMYH02016365;AMYH02016366;BC022298;BC025176;BC026255;BC033862;BX537676;BX648856;CH236956;CH471091;DC383127;DQ680079;J04813;KF459642;L26985;L35912;NG_007938;NM_000777;NM_001190484;NM_001291829;NM_001291830;NR_033807;NR_033808;NR_033809;NR_033810;NR_033811;NR_033812;X90579;XM_006715859;XM_006715860 AAA02993;AAB00083;AAG32288;AAH33862;AAK73689;AAK73690;AAK73691;AAS02016;ABG25922;ABM81669;ABM84839;ABM87801;ABW03289;BAD96728;BAG36549;BAH12282;BAH12923;CAD91347;CAD91647;CAD91649;CAD97807;EAL23868;EAW76638;EAW76639;EAW76640;EAW76641;EAW76642;NP_000768;NP_001177413;NP_001278758;NP_001278759;P20815;XP_006715922;XP_006715923 Hs.571258 1337499;1673475;1719171;2119951;2120055;2148288;2161343;5015613;7186369 D11S3059;D7S2874;D7S647;RH123304;RH45981;RH71343;SHGC-1891;SHGC-8697 CP35;CYPIIIA5;DKFZp686L16231;FLJ31317;P450PCN3;P450PCN3.;PCN3 OTTHUMP00000210469;OTTHUMP00000210470;aryl hydrocarbon hydroxylase;cytochrome P-450;cytochrome P450 3A5;cytochrome P450 HLp2;cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5;cytochrome P450-PCN3;flavoprotein-linked monooxygenase;microsomal monooxygenase;niphedipine oxidase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000106258 HGNC:2638 05617 145500;605325 REVIEWED 6480320 CYP4F10P cytochrome P450, family 4, subfamily F, polypeptide 10, pseudogene 19 19 19 p13.12 15672024 15677525 + 15774923 15778050 + 15664113 15667240 + 20379614 646575 ABBA01051121;AC122702;AD000685;AMYH02035664;NG_032152 pseudo HGNC:39943 INFERRED 1349925 CYP4F11 cytochrome P450, family 4, subfamily F, polypeptide 11 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15921026 15945078 - 16023180 16045676 - 15912370 15934866 - 1580863;6480464;6907045;8554872 10964514;12477932;14702039;15057824;15128046;15489334;18065749;18976975;19812349;20379614;20689807;21906983;21988832;24138531;8889548;9068972 57834 F8W978;Q9HBI6;V9GYP6 ABBA01051126;AC005336;AC011517;AC020950;AF236085;AK125714;AK289424;AK309292;AL833940;AMYH02035666;BC016853;BM727421;BU180723;CH471106;DC345817;KF456510;NG_008335;NM_001128932;NM_021187 AAC27731;AAG15889;AAH16853;ABM82393;ABM85576;BAF82113;CAD38795;EAW84511;EAW84512;EAW84513;EAW84514;EAW84515;NP_001122404;NP_067010;Q9HBI6 Hs.187393 1719805;2170048;5015810 G15996;GDB:182516;RH123595 CYPIVF11 cytochrome P450 4F11;cytochrome P450, subfamily IVF, polypeptide 11 APPROVED protein-coding ENSG00000171903 HGNC:13265 07101 611517 REVIEWED 1315314 CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008] 14 14 14 q32.1 80205602 80248517 + 100150755 100193638 + 99684418 99727301 + 1358575;1580863;6480464;6907045;8554872 12232784 10377398;11111082;11698143;12123847;12477932;12533083;12533085;14640697;14702039;15034781;15106838;15128046;15165699;15172102;15286456;15331159;15450677;15489334;15936520;15975088;16013913;16055229;16157450;16258842;16734927;16960449;17335784;17550732;17854420;18511756;18621681;18842294;18976975;19059217;19161969;19212968;19286353;19363267;19553612;19647891;20193040;20535486;20667828;20682755;20693622;21049985;21386929;21729100;22185844;22528464;22977134;23070465;23167762;23288837;23604141;23792195;9717719 10858 G3V366;H0Y3G0;H0YJI0;H0YJU5;Q9Y6A2 AB209749;ABBA01048551;AF094480;AK090886;AK295216;AL136000;AL160313;AMYH02029840;AMYH02029841;BC022539;CH471061;NG_007963;NM_006668;XM_005267274 AAD41244;AAH22539;BAC03539;BAD92986;BAG58210;EAW81678;NP_006659;Q9Y6A2;XP_005267331 Hs.25121 1652767;1708740;1793430;5021872;5037552 D8S2279;PMC22064P1;RH78065;SHGC-81587;sY3084 CH24H;CP46;CYP46 OTTHUMP00000246265;OTTHUMP00000246266;OTTHUMP00000246267;cholesterol 24-hydroxylase;cytochrome P450 46A1;cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase) APPROVED protein-coding ENSG00000036530 HGNC:2641 04970 604087 REVIEWED 5144711 CYP4F23P cytochrome P450, family 4, subfamily F, polypeptide 23, pseudogene 19 19 19 15571720 15592381 + 15674884 15695532 + 15564073 15584721 + 15128046;22491018 100422238 ABBA01051120;AC011492;AMYH02035662;KC877713;NG_024224 1331582;5109114 D19S432;D19S551 pseudo HGNC:39944 INFERRED 5144721 CYP4F25P cytochrome P450, family 4, subfamily F, polypeptide 25, pseudogene 9 9 q21.11 69477894 69478176 + 64465476 64465758 + 100288827 AC244112;CR769776;NG_030091 pseudo HGNC:39949 INFERRED 5144334 CYP4F24P cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene 19 19 19 p13.12 15768052 15788710 - 15870144 15890798 - 15759334 15779988 - 6480464 12477932;15128046 388514 ABBA01051122;ABBA01051123;AC004597;AC011537;AK297837;AK308750;AMYH02035664;BC092420;NR_033864 BAG60171 Hs.438274 pseudo HGNC:39945 VALIDATED 736540 CYP4B1 cytochrome P450, family 4, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Two transcript variants encoding slightly different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p33 45552027 45572396 + 47264670 47285021 + 46798998 46819349 + 1300048;1580863;1626420;6480464;8554872 9310344 10768437;11062028;11669629;11737226;11767004;12142726;12477932;12837283;15006160;15128046;15499177;16344560;18660489;18713828;19040121;19074885;19343046;19898482;19913121;20379614;20628086;22675492;2298205;2574990;7894498;8125298;8313365;8694864;8889548;9202751;9364212;9493761;9498238 1580 E7EME6;E9PL36;E9PML0;F5H1Q8;F5H5Q6;F5H6F1;P13584;Q8IZB0 ABBA01050835;AF491285;AK225576;AK225578;AK300921;AK300941;AK307715;AK313170;AL356793;AL593856;AMYH02000964;AY064484;AY064485;AY064486;AY151048;AY151049;BC017758;BM977596;CH471059;DA380788;DQ518907;J02871;NG_007939;NM_000779;NM_001099772;X16699 AAA35712;AAH17758;AAL57719;AAL57720;AAL57721;AAM09532;AAN72311;AAN72312;ABF47106;ABM82936;ABM86125;BAG62553;BAG62570;CAA34672;EAX06888;EAX06889;EAX06890;EAX06891;NP_000770;NP_001093242;P13584 Hs.436317 1795666;5024545;5111076 CYP4B1_1569;D1S3259;D1S3695 CYPIVB1;P-450HP OTTHUMP00000009678;OTTHUMP00000009679;OTTHUMP00000009680;OTTHUMP00000237949;cytochrome P450 4B1;cytochrome P450, subfamily IVB, polypeptide 1;cytochrome P450-HP;cytochrome p450, subfamily 4b, polypeptide 1;microsomal monooxygenase APPROVED protein-coding ENSG00000142973 HGNC:2644 00491 124075 REVIEWED 1603864 CYP4A22 cytochrome P450, family 4, subfamily A, polypeptide 22 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008] 1 1 1 p33 103 2748 - 47603107 47614528 + 47137435 47148854 + 6480464;6907045;8554872 10860550;12464262;12477932;15128046;15611369;20079672;21820496 284541 Q5TCH4;Q5TCH5 ABBA01050830;AF208532;AL135960;AMYH02000968;AY280371;AY280372;BC142607;BC142690;BC148248;NG_007937;NM_001010969;XM_005270767;XM_005270768;XM_005270769;XM_005270770 AAF76722;AAI42608;AAI42691;AAI48249;AAQ21367;AAQ21368;CAI19736;CAI19737;CAI19738;NP_001010969;Q5TCH4;XP_005270824;XP_005270825;XP_005270826;XP_005270827 Hs.726474 1674438;1742975 GDB:226298;SHGC-74787 CYPIVA22;OTTHUMP00000009560;OTTHUMP00000009561;OTTHUMP00000009562;cytochrome P450 4A22;cytochrome P450 4A22K;fatty acid omega-hydroxylase;lauric acid omega-hydroxylase APPROVED protein-coding ENSG00000162365 HGNC:20575 16776 615341 REVIEWED 1606166 CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 15516166 15559962 + 15619336 15663128 + 15508525 15552317 + 6480464;7240710;8699517;8554872 10712205;10712223;12477932;15128046;16344560;16436457;18245815;20301593;21540472;21906983;22209317;23871423 126410 Q6NT55 ABBA01051116;ABBA01051117;ABBA01051118;ABBA01051119;AC011492;AI341068;AK096820;AMYH02035661;AMYH02035662;BC069351;BC093894;BC093896;CH471106;DA874258;NG_007987;NM_173483 AAH69351;AAH93894;AAH93896;BAC04868;EAW84484;NP_775754;Q6NT55 Hs.156452 1336040;1337320;1650357;2163724;2187288 D19S252;D19S566;G30939;RH11549;RH12471 ARCI5;FLJ39501;LI3 INLNE;cytochrome P450 4F22;cytochrome P450, family 2, subfamily E, polypeptide 2 homolog APPROVED protein-coding ENSG00000171954 HGNC:26820 08256 604777;611495 REVIEWED 5144707 CYP4F34P cytochrome P450, family 4, subfamily F, polypeptide 34, pseudogene 13 13 13 386927 387716 - 19316052 19316841 - 18741912 18742701 - 100422247 ABBA01068530;AC245149;AL391382;NG_024825 pseudo HGNC:39953 INFERRED 5144710 CYP4F36P cytochrome P450, family 4, subfamily F, polypeptide 36, pseudogene 19 19 19 15885959 15902579 - 15982477 15982662 - 15871667 15871852 - 100422235 ABBA01051126;AC004791;AMYH02035666;NG_024156 2114410;7183829 SHGC-12532 pseudo HGNC:42407 INFERRED 5490952 CYP4F35P cytochrome P450, family 4, subfamily F, polypeptide 35, pseudogene 18 18 18 p11.21 14227192 14232293 + 14337422 14342523 + 14337423 14342524 + 15128046 284233 ABBA01074053;AJ003450;AMYH02034358;AP005212;BC037172;HG509804;NR_026756 Hs.607579 5112333 RH103540 RP11-757O6.2 pseudo ENSG00000265787 HGNC:39954 INFERRED 5144727 CYP4F59P cytochrome P450, family 4, subfamily F, polypeptide 59, pseudogene 9 9 p12 43031155 43031437 - 66050577 66050859 - 100132340 AL669942;NG_031982 pseudo HGNC:39947 INFERRED 1345730 CYP4F30P cytochrome P450, family 4, subfamily F, polypeptide 30, pseudogene INTERACTS WITH (+)-catechin 2 2 q21.1 131437623 131443436 + 130680050 130685863 + 11230166;12477932;14702039 100132708 Q9H0H9 ABBA01040139;ABBA01040140;AC140481;AK093281;AL136789;AMYH02004798;BC069727;BC069809;NR_023391 CAB66723;Q9H0H9 Hs.734862 C2orf14;DKFZp434F1719;FLJ35962 APPROVED pseudo ENSG00000214081 HGNC:25270 VALIDATED 1349362 CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3 This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 19 19 19 p13.2 15648618 15668477 + 15751701 15771570 + 15640897 15660760 + 1580863;6480464;6907045;8554872 10409674;11461919;12477932;12709424;14715252;15128046;16344560;16380383;17980168;18065749;18566475;18577768;19138970;19343046;20047521;20237496;21666788;21906983;22706230;24406470;8026587;8486631;9068972;9539102 4051 K7EJZ8;Q08477;V9GYA1 AB002454;AB002461;ABBA01051121;AD000685;AF054821;AK296761;AK296802;AK298675;AK303477;AK304200;AK316136;AMYH02035664;AY792513;BC136299;CH471106;D12620;D12621;DB184202;NG_007964;NM_000896;NM_001199208;NM_001199209;XM_005259911;XM_006722751 AAC08589;AAI36300;AAV40834;BAA02144;BAA02145;BAA25990;BAA25991;BAH12428;BAH12435;BAH12844;BAH13972;BAH14129;BAH14507;EAW84488;EAW84489;EAW84490;EAW84491;NP_000887;NP_001186137;NP_001186138;Q08477;XP_005259968;XP_006722814 Hs.106242 1341928;5022651;7183829 D11S2921;D19S244;SHGC-12532 CPF3;CYP4F;LTB4H CYPIVF3;cytochrome P-450;cytochrome P450 4F3;cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase);cytochrome P450-LTB-omega;leukotriene B4 omega hydroxylase;leukotriene-B(4) 20-monooxygenase 2;leukotriene-B(4) omega-hydroxylase 2;leukotriene-B4 20-monooxygenase APPROVED protein-coding ENSG00000186529 HGNC:2646 03169 601270 REVIEWED 1347352 CYP4F2 cytochrome P450, family 4, subfamily F, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 15886777 15906748 - 15988834 16008884 - 15878024 15898074 - 70707;1580863;6480464;6907045;8554872 8424651 10492403;10660572;10860554;11162441;11715494;12477932;12736711;15057824;15128046;15489334;16733892;17142457;17284776;17341693;17474147;18065749;18235092;18250228;18391101;18433732;18574070;18662666;18787519;18971550;19097922;19207028;19270263;19279555;19297518;19297519;19300499;19343046;19545555;19578179;19741565;19794411;19913121;19957603;19958090;20072124;20130494;20149073;20182420;20227456;20421126;20442691;20499136;20504253;20553802;20555338;20628086;20653676;20833655;20861217;21063236;21084764;21127708;21150635;21475774;21562135;21625857;21729881;21883387;21887457;21906983;22188360;22198820;22393834;22437554;22452429;22484021;22528326;22534826;22549502;22854539;22855348;23013706;23018470;23132553;23215885;23281178;23510058;23726967;23846787;24029542;24138531;24319743;24668751;8026587;9068972;9618440;9799565 8529 K7EK90;K7EPM0;K7EQI8;P78329 AB015306;ABBA01051126;AC004791;AC005336;AF221943;AF467894;AK290790;AK296200;AK300961;AK313705;AMYH02035666;BC067437;BC067438;BC067439;BC067440;CH471106;D26480;DC362034;KF459709;NG_007971;NM_001082;U02388 AAC27730;AAC50052;AAF86378;AAH67437;AAH67439;AAH67440;AAL67578;BAA05490;BAA75823;BAF83479;BAG58928;BAG62587;EAW84508;EAW84509;EAW84510;NP_001073;P78329 Hs.558423 2114410;7183829 SHGC-12532 CPF2 CYPIVF2;cytochrome P450 4F2;cytochrome P450, subfamily IVF, polypeptide 2;cytochrome P450-LTB-omega;leukotriene B4 omega-hydroxylase;leukotriene-B(4) 20-monooxygenase 1;leukotriene-B(4) omega-hydroxylase 1;leukotriene-B4 20-monooxygenase APPROVED protein-coding ENSG00000186115 HGNC:2645 05112 604426 REVIEWED 5144622 CYP4F9P cytochrome P450, family 4, subfamily F, polypeptide 9, pseudogene 19 19 p13.12 16090615 16109825 - 15979805 15999015 - 11181995 100506916 ABBA01051126;ABBA01051127;AMYH02035666 1647523 D19S1162 pseudo HGNC:39940 MODEL 5144441 CYP4F62P cytochrome P450, family 4, subfamily F, polypeptide 62, pseudogene 2 2 q21.1 131193235 131199254 - 130435662 130441681 - 15203218;15815621 646802 AC132479;AMYH02004775;CD633730;NR_103761 Hs.640308 CYP4F43P CYP4F-se11[6:7:8];Uncharacterized protein C2orf14-like 1;cytochrome P450, family 4, subfamily F, polypeptide 43, pseudogene APPROVED pseudo ENSG00000239402 HGNC:39956 VALIDATED 1354200 CYP4Z1 cytochrome P450, family 4, subfamily Z, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008] 1 1 1 p33 45820302 45871835 + 47533160 47583992 + 47067488 47118320 + 1580863;6480464;8554872 12975309;15059886;15128046;15797250;19090726;19473719;22841774;9068972 199974 Q86W10 ABBA01050830;ABBA01050831;ABBA01050832;AK292175;AL135960;AL450996;AMYH02000968;AY262056;AY358631;CH471059;NG_007967;NM_178134 AAI40383;AAI46467;AAO89257;AAQ88994;BAF84864;CAI19734;EAX06880;EAX06881;NP_835235;Q86W10 Hs.176588 1649058;1781694;1848137;2154835;5093224 A009J39;G32593;SHGC-155105;SHGC-74767;STS-T92928 CYP4A20 CYPIVZ1;OTTHUMP00000009713;cytochrome P450 4Z1 APPROVED protein-coding ENSG00000186160 HGNC:20583 13111 REVIEWED 1354190 CYP4F29P cytochrome P450, family 4, subfamily F, polypeptide 29, pseudogene 21 21 21 q11 395072 396269 + 15218979 15220176 - 13846658 13847855 - 10830953;11707072 54055 ABBA01057063;AC245051;AL109748;AL163204;AY040090;CA415229;NR_026755 AAK74137 Hs.580910 4F-se4[6:7:8];C21orf15;CYP4F-se4[6:7:8];CYP4F3LP APPROVED pseudo ENSG00000228314 HGNC:2647 VALIDATED 2293116 CYP4Z2P cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene ENCODES a protein that exhibits heme binding (inferred); iron ion binding (inferred); oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene 1 1 1 p33 45611282 45653449 - 47308767 47366147 - 46843095 46900475 - 6480464 14702039;15059886;15128046;16344560 163720 Q8N1L4 ABBA01050834;ABBA01050835;AK097373;AL356793;AL731892;AMYH02000964;AMYH02000965;AMYH02000966;AMYH02000967;AY262057;AY696295;DA998990;NR_002788 AAU10524;BAC05026;Q8N1L4 Hs.591431 1781694;2154835 SHGC-155105;STS-T92928 FLJ40054 APPROVED pseudo ENSG00000154198 HGNC:24426 VALIDATED 731278 CYP4X1 cytochrome P450, family 4, subfamily X, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. [provided by RefSeq, Jul 2008] 1 1 1 p33 45776425 45803552 + 47427036 47516423 + 47023568 47050751 + 625536;1580863;6480464;8554872 12176035 12477932;12975309;14702039;15128046;15489334;15797250;21890473 260293 Q8N118 ABBA01050832;ABBA01050833;ABBA01050834;AK091806;AK098065;AK131355;AL450996;AM040940;AMYH02000967;AY358537;BC028102;CH471059;NG_007966;NM_178033 AAH28102;AAQ88901;ABM82581;ABM82582;ABM85769;ABW03738;BAC03751;BAC05226;BAD18508;CAJ13826;EAX06882;EAX06883;EAX06884;NP_828847;Q8N118 Hs.439760 1676398;1795668 CYP4X1_1355;RH99198 CYPIVX1;MGC40051 OTTHUMP00000009712;cytochrome P450 4X1 APPROVED protein-coding ENSG00000186377 HGNC:20244 13110 614999 REVIEWED 2302452 CYP51A1P2 cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 2 INTERACTS WITH 5-fluorouracil; isotretinoin 13 13 13 q12.3 10370777 10374074 - 29295001 29298296 - 28720864 28724159 - 6480464 10978293;8809088 83530 ABBA01035723;AF196988;AF196989;AL359454;AMYH02027770;NG_002766;U40053 1680892;2119003;2218704 RH70626;RH71229;UniSTS:463011 CYP51P2 APPROVED pseudo HGNC:20251 INFERRED 1345262 CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 7 7 7 q21.2 86446011 86468618 - 91741463 91764059 - 92112149 92134745 - 1580863;2316868;2316857;2316902;6480464 12668600;16876788;7581240 11678326;12145339;12477932;12690205;12824470;12853948;14702039;15128046;15489334;15611056;16344560;18660489;18676367;19322201;19946888;20149798;20547249;21139048;21890473;21906983;21963094;21987572;21988832;22053931;22180046;23000965;24358204;24362992;24502137;24654937;8024575;8619637;8797093;8809088;8845856;8975714 1595 C9IYR8;H7C0D0;Q16850 ABBA01045811;AC000120;AK295932;AK314205;AMYH02016259;BC018429;BC032322;CH236949;CH471091;D55653;DA349400;DC376300;NG_007968;NM_000786;NM_001146152;U23942;U51684;U51685;U51686;U51687;U51688;U51689;U51690;U51691;U51692 AAB39951;AAB46356;AAC50951;AAH18429;AAH32322;ABM82237;ABM85421;BAA09512;BAG36881;BAG58717;EAL24154;EAW76858;EAW76859;NP_000777;NP_001139624;Q16850 Hs.417077 1711476;1795670;5015619;5016781;5020635;5113111;5113754 CYP51A1_1811;D11S3114;D7S3207;G49195;RH68507;RH79131;SHGC-67307 CP51;CYP51;CYPL1;LDM;P450-14DM;P450L1 CYPLI;OTTHUMP00000161775;OTTHUMP00000208817;cytochrome P450 51A1;cytochrome P450, 51 (lanosterol 14-alpha-demethylase);cytochrome P450-14DM;cytochrome P45014DM;cytochrome P450LI;lanosterol 14-alpha demethylase;lanosterol 14-alpha-demethylase;sterol 14-alpha demethylase APPROVED protein-coding ENSG00000001630 HGNC:2649 03381 601637 REVIEWED 1351749 CYP4F12 cytochrome P450, family 4, subfamily F, polypeptide 12 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid. It can also catalyze the epoxidation of 22:6n-3 and 22:5n-3 polyunsaturated long-chain fatty acids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] 19 19 19 p13.1 15680803 15704255 + 15783567 15807984 + 15673018 15697194 + 1580863;6480464;8554872 11162607;1116264;11162645;11752129;12477932;12975309;14702039;15078342;15128046;15163554;15191668;15238214;15548388;16112640;16303743;16344560;17980168;18065749;18662666;18828626;19129222;21906983;21988832;9068972 66002 F8VR75;F8VU50;F8VZP1;Q9HCS2 AB035130;AB035131;ABBA01051121;AC004523;AC122702;AEKP01137955;AK074412;AK075435;AK304138;AK304389;AL832171;AMYH02035664;AY008841;AY358977;BC034916;BC035350;CH471106;DB016100;DB221158;DC418592;DR422336;KF459712;NG_008336;NM_023944;NR_117085;XM_005260038;XM_006722848;XM_006722849;XM_006722850 AAC11543;AAG33247;AAH35350;AAQ89336;ABM81736;ABM84891;BAB18269;BAB18270;BAG52137;BAG65032;BAG65224;CAI46131;EAW84492;EAW84493;EAW84494;EAW84495;EAW84496;EAW84497;EAW84498;EAW84499;EAW84500;EAW84501;NP_076433;Q9HCS2;XP_005260095;XP_006722911;XP_006722912;XP_006722913 Hs.131459 F22329_1 CYPIVF12;OTTHUMP00000226793;OTTHUMP00000240810;cytochrome P450 4F12;cytochrome P450, subfamily IVF, polypeptide 12 APPROVED protein-coding ENSG00000186204 HGNC:18857 07102 611485 REVIEWED 5144709 CYP51A1P3 cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 3 6 6 6 149541388 149542795 + 148800489 148801896 + 148479353 148480760 + 100422264 ABBA01025699;AL033378;AMYH02014680;NG_025983 CYP51P3 APPROVED pseudo HGNC:41991 INFERRED 2302453 CYP51A1P1 cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 1 3 3 3 p12.2 83598897 83602042 - 82854162 82857307 - 82805011 82808156 - 8809088 83528 ABBA01031063;AC107307;AMYH02007159;NG_001294;U36926 CYP51P1 APPROVED pseudo HGNC:20245 INFERRED 1312886 CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008] 4 4 4 q35.2 184435120 184457152 + 187112565 187134617 + 186191411 186213463 + 6480464;7240710;8554872;8699517 11001583;12477932;12975309;14702039;15042513;15128046;15489334;15860296;16030350;16088246;16179904;16186368;17013694;17249554;17962476;18349091;19278955;19508456;19583818;19661213;20205591;20379614;21385027;21540472;21565171;21850171;21892605;21988832;22497028;22605929;22693542;22916037;23221965;23242590;23503679;23538635;23793346;24480711 285440 Q6UWV9;Q6ZWL3 AA918796;ABBA01070554;AC110771;AK022114;AK122600;AK126473;AK311390;AMYH02010675;AY358619;AY422002;BC035933;BC038095;BC041839;BC048253;BC060857;BX648537;BX648730;CH471056;FJ440682;NG_007965;NM_207352;XM_005262935;XM_006714184 AAH41839;AAH60857;AAQ88982;AAR31180;ACK44069;ADZ15572;BAC85487;BAC86562;EAX04624;NP_997235;Q6ZWL3;XP_005262992;XP_006714247 Hs.587231 1335451;1689045;1689873;1770151;2143085;2145106;2176196;5022588;5022649;5037552 D11S2875;D4S2299;D5S1597E;D8S2279;G33554;RH92409;RH98214;SHGC-37162;SHGC-59696;SHGC-59712 BCD;CYP4AH1;FLJ18432;MGC43534 OTTHUMP00000218110;cytochrome P450 4V2 APPROVED protein-coding HGNC:23198 16777 210370;608614 REVIEWED 736649 CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008] 3 3 3 p22.1 42851598 42855548 - 42913684 42917633 - 42872192 42876141 - 1300048;1580863;6480464;6907045;8554872 10051404;11535594;12477932;15128046;15249218;15489334;15891895;16937432;17585019;18660489;19898482;22093981;23216301;24226095 1582 C9JFR9;Q9UNU6 ABBA01024762;AC099329;AF090318;AF090320;AK310784;AMYH02006630;BC067434;BC067441;BC067442;BC067443;BC067444;CH471055;NG_007970;NM_004391 AAC63037;AAD19877;AAH67434;AAH67441;AAH67442;AAH67444;EAW64682;NP_004382;Q9UNU6 Hs.447793;Hs.722743 1787782;1797472;2174075;5037552 CYP8B1_1900;D8S2279;SHGC-173157;SHGC-76869 CP8B;CYP12;FLJ17826 7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase;7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase;7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase;CYPVIIIB1;OTTHUMP00000164042;cytochrome P450 8B1;cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1;sterol 12-alpha-hydroxylase APPROVED protein-coding ENSG00000180432 HGNC:2653 03705 602172 REVIEWED 731720 CYR61 cysteine-rich, angiogenic inducer, 61 The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011] 1 1 1 p22.3 84290551 84293757 + 86046444 86049650 + 85580761 85583967 + 1580863;734995;6480464 12446788 10446209;10821835;10852911;11120741;11287419;11584015;11600415;11751417;11810026;11840342;12036876;12217894;12364323;12374462;12444554;12477932;12736251;12826661;12831056;12899698;12939282;14702039;14988385;15041728;15044484;15044605;15053922;15077166;15389821;15471875;15489334;15526358;15564459;15592521;15782120;15878827;15961723;16243794;16344560;16581771;16675545;16804865;16877350;17056474;17234971;17314511;17361185;17429007;17437852;17579708;17601910;17626014;17673559;17699553;17718860;17765657;18004727;18025257;18058471;18089610;18202125;18212329;18381294;18575751;18599605;18687805;18800188;18819928;18936953;18941464;18950845;19007976;19147534;19180570;19244129;19288017;19364818;19542562;19584265;19632997;19950293;20010302;20043874;20056838;20097175;20195466;20233866;20237132;20237496;20360068;20531301;20628624;20641097;21081514;21138874;21139048;21153366;21159247;21212405;21232118;21249313;21312266;21349946;21393426;21397653;21447598;21488975;21505992;21601497;21618249;21628462;21711965;21963094;21976359;21995436;22023263;22025384;22056874;22160564;22253074;22363611;22401280;22527715;22532143;22540002;22547695;22551568;22566095;22692860;22694338;22752926;22797925;23027863;23045290;23141184;23196056;23259998;23316072;23504324;23528710;23618859;23623839;23667531;23744557;23798676;24009013;24037310;24084383;24317814;24449575;24767859;24973403;8125298;8635876;9135077;9446626;9488038;9528960;9536281;9600969 3491 O00622;Q6FI18 ABBA01045637;AC092807;AF003114;AF003594;AF031385;AF307860;AK096420;AK223385;AK295430;AK314571;AL832891;AMYH02001386;AY443495;BC001271;BC009199;BC016952;BP387218;CH471097;CR536519;DA764894;NM_001554;U62015;Y11307;Y12084;Z50168;Z97068;Z98053 AAB58319;AAB61240;AAB84227;AAF21597;AAG59863;AAH01271;AAH09199;AAH16952;AAR05446;ABM82188;ABM85375;BAD97105;BAG37152;BAG58373;CAA72167;CAA72802;CAB09804;CAB10848;CAG38757;EAW73196;EAW73197;EAW73198;NP_001545;O00622 Hs.8867 2164934 D1S3544 CCN1;GIG1;IBP-10;IGFBP-10;IGFBP10 CCN family member 1;IGF-binding protein 10;OTTHUMP00000012303;cysteine rich protein 61;cysteine-rich heparin-binding protein 61;cysteine-rich, anigogenic inducer, 61;insulin-like growth factor-binding protein 10 APPROVED protein-coding ENSG00000142871 HGNC:2654 09089 602369 REVIEWED 1353889 CYP4F8 cytochrome P450, family 4, subfamily F, polypeptide 8 This gene, CYP4F8, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15622900 15637357 + 15726029 15740448 + 15615218 15629638 + 1580863;6480464;8554872 10405341;10791960;11448449;12464258;14702039;15128046;15789615;16112640;16344560;17353931;19343046;21281786;22228203;9068972 11283 P98187 ABBA01051120;AC093072;AD000685;AF133298;AI401776;AK096809;AK300478;AK300530;AK300539;AK314685;AMYH02035662;CH471106;DA871128;DA877298;DB329701;KF459713;NG_008068;NM_007253 AAD49566;AAI46323;AAI56577;BAG37237;BAG62194;BAG62241;BAG62247;EAW84486;EAW84487;NP_009184;P98187 Hs.268554 1336040;1342299;1730735 D19S252;D19S253;D19S588 CPF8;CYPIVF8 cytochrome P450 4F8;cytochrome P450, subfamily IVF, polypeptide 8;flavoprotein-linked monooxygenase;microsomal monooxygenase APPROVED protein-coding ENSG00000186526 HGNC:2648 08518 611545 REVIEWED 69210 CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010] 8 8 8 q11-q12 55395751 55405734 - 59402737 59412720 - 58490178 58500161 - 1580863;1300048;6480464;6907045;8554872 10359768;10882719;11257258;11907135;12011083;12093884;12093894;12116231;12202481;12213890;12477932;12554795;12721789;12810154;12815072;12865425;1312351;1358792;14515446;14522988;14592954;14762172;15128046;15133863;15205472;15241483;15262185;15333704;15489334;15640003;15707388;15736936;15752749;15796896;15805302;15910869;1610352;16115473;16630139;16709249;16763159;16892178;16917677;16937432;17680536;17920062;18078817;18178499;18270374;18307386;18385139;18660489;18665040;18728123;18728290;18996102;19018779;19185005;19343046;19448895;19463968;19537927;19558216;19598235;19850125;19956635;19965590;20005541;20031551;20235787;20351063;20403997;20578904;20602615;20686565;20717043;20857261;20872969;20884100;21039385;21147774;21346769;21813643;21902813;22058145;22235657;22607622;22713451;23038264;23354620;23458092;23626788;23740208;2384150;24097068;24365583;7288293;8020987;8439551;8504159;9559267 1581 P22680 ABBA01041788;ABBA01041789;AC009927;AMYH02018032;BC101777;BC112184;CH471068;L04634;L13460;M89647;M89803;M93133;NG_007969;NM_000780;X56088 AAA58423;AAA58435;AAA61350;AAI01778;AAI12185;CAA39568;EAW86811;NP_000771;P22680 Hs.1644 1645470;1673585;1792110;1794750;1795672;5120231 CYP7A1_433;GDB:213610;PMC137182P1;PMC357015P1;RH17754;SHGC-35322 CP7A;CYP7;CYPVII;MGC126826;MGC138389 OTTHUMP00000226411;cholesterol 7-alpha-hydroxylase;cholesterol 7-alpha-monooxygenase;cytochrome P450 7A1;cytochrome P450, subfamily VIIA polypeptide 1 APPROVED protein-coding ENSG00000167910 HGNC:2651 00324 118455 REVIEWED 1606435 CYS1 cystin 1 ASSOCIATED WITH Polycystic Kidney, Autosomal Recessive (ortholog); FOUND IN extracellular vesicular exosome; INTERACTS WITH trichostatin A; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 p25.1 10113148 10122388 - 10196926 10220538 - 10056799 10080411 - 6480464;7175541 11854326 12733055;14702039;23535732 192668 Q717R9 ABBA01015601;ABBA01015602;AC104794;AF544983;AK091299;AMYH02003265;AW298291;BE907159;CH471053;DB559824;NM_001037160 AAI48589;AAI56922;AAQ11748;EAX00971;NP_001032237;Q717R9 Hs.27092;Hs.720471 1766595;2121305;2124160;2143205;2185196 G19152;RH47577;RH48834;SHGC-149902;SHGC-24187 FLJ33980 OTTHUMP00000200386;cilia-associated protein;cystin-1 protein-coding ENSG00000205795 HGNC:18525 18744 VALIDATED 1352313 CYSLTR2 cysteinyl leukotriene receptor 2 The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [provided by RefSeq, Jul 2008] 13 13 13 q14.2 30335737 30338284 + 49227847 49283498 + 48706815 48709362 + 1580863;4781445;4783198;5144003;5143997;5144004;4888517;5144000;5144002;6480464;6484113 15328359;15454733;15475736;15970796;16689996;18490405;20497024;21664436 1085123;10851239;10913337;11093801;11696047;12044878;12100046;12477932;12816881;13679572;14515063;15057823;15489334;15545522;15696087;16606835;16754659;16771777;17404310;17460547;17941281;17991613;18048362;18366797;18779380;18946233;19131661;19247692;19264973;19450127;19840403;19913121;20433311;20628086;20966037;21203429;21352274;21753081;22194989;22634478;23524649;23829413;24285579 57105 Q5KU17;Q9NS75 AB038269;AB041644;AB041947;AB083603;ABBA01051009;AF254664;AF279611;AK291739;AL137118;AMYH02028004;AX211656;AX214087;AX304816;AX329226;AX417072;AX644551;AY389504;AY853711;BC069160;BC096832;CH471075;CS251127;EF141523;EF141524;EF141525;EF141526;EF141527;EF141528;EF141529;EF141530;NM_020377 AAG17281;AAH69160;AAH96832;AAK69485;AAQ91330;AAW47925;ABO61874;ABO61875;ABO61876;ABO61877;ABO61878;ABO61879;ABO61880;ABO61881;BAB03601;BAB16379;BAB89316;BAD83598;BAF84428;CAC69300;CAC69324;CAD19004;CAD20523;CAD35281;CAD68128;CAJ58194;EAX08802;NP_065110;Q9NS75 Hs.253706;Hs.614318 2218456;5494011 CYSLTR2_4569;UniSTS:480719 CYSLT2;CYSLT2R;GPCR;HG57;HPN321;KPG_011;PSEC0146;hGPCR21 G protein-coupled receptor;G-protein coupled receptor GPCR21;G-protein coupled receptor HG57;OTTHUMP00000018401;cysteinyl leukotriene CysLT2 receptor APPROVED protein-coding HGNC:18274 09293 605666 REVIEWED 8663167 CYP51A1-AS1 CYP51A1 antisense RNA 1 (head to head) 7 7 q21.2 86467735 86514591 + 91763176 91808325 + 12477932;24905231 613126 AC000120;AK299715;AL133568;BC042829;CH236949;DB454331;HY053824;NR_122109;NR_122110;XR_108845;XR_110714;XR_113035;XR_171667 BAG61615 Hs.662663 LRRD1-AS1 ncrna HGNC:50694 VALIDATED 735270 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. [provided by RefSeq, Jul 2008] 8 8 8 q21.3 61498536 61701760 - 65508529 65711348 - 64595972 64798791 - 1580863;6480464;6907045;7240710;8554872;8699517 10588945;12477932;12721789;14521990;15003524;15007371;15128046;15181079;15698543;15751070;16630558;17467270;17680536;18055760;18252231;18331353;18676680;18790053;18855023;19170196;19187859;19343046;19363635;19439420;19625176;19687010;19692168;19732851;19913121;20301682;20628086;21214876;21452256;21541746;21567895;21890473;22174851;23180418;23393555;23400010;24491228;7987300;9559267;9802883 9420 O75881;Q05C57 ABBA01041852;ABBA01041853;ABBA01041854;AC090136;AC104232;AC104939;AF029403;AF127089;AF127090;AF176805;AMYH02018086;AMYH02018087;AMYH02018088;AMYH02018089;BC029155;BC136574;CH471068;NG_008338;NM_004820 AAC95426;AAD20021;AAH29155;AAI36575;AAK11850;EAW86877;NP_004811;O75881 Hs.667720 1337894;1722733;1755019;1755991;1768170;1773848;1797470 CYP7B1_2190;D8S1173;D8S544;G60304;SHGC-141962;SHGC-142808;SHGC-58037 CBAS3;CP7B;SPG5A 25-hydroxycholesterol 7-alpha-hydroxylase;OTTHUMP00000226589;cytochrome P450 7B1;cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1;cytochrome p450, subfamily 7b, polypeptide 1;oxysterol 7-alpha-hydroxylase;oxysterol 7alpha-hydroxylase APPROVED protein-coding ENSG00000172817 HGNC:2652 04753 270800;603711;613812 REVIEWED 1603605 CYSTM1 cysteine-rich transmembrane module containing 1 FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; atrazine 5 5 5 q31.3 135630466 135700049 + 139554653 139623374 + 140175068 140243789 + 6480464 12477932;17207965;19056867;19933165;21139048;22939629;23864651;8125298;8889548 84418 Q9H1C7 ABBA01026436;ABBA01026437;ABBA01026438;ABBA01026439;AC011379;AC011380;AJ245877;AK225992;AK312045;AMYH02012325;AMYH02012326;BC013643;BC023982;BM919999;CA310907;CH471062;NM_032412 AAH13643;AAH23982;ADQ32230;CAC21572;EAW62073;EAW62074;NP_115788;Q9H1C7 Hs.529798 1665686;1772749;2159706 D5S1867;RH41916;SGC33030 C5orf32;ORF1-FL49 OTTHUMP00000159548;UPF0467 protein C5orf32;cysteine-rich and transmembrane domain-containing protein 1;hypothetical protein LOC84418;putative nuclear protein ORF1-FL49 APPROVED protein-coding HGNC:30239 15091 VALIDATED 732524 CYSLTR1 cysteinyl leukotriene receptor 1 This gene encodes a member of the G-protein coupled receptor 1 family. The encoded protein is a receptor for cysteinyl leukotrienes, and is involved in mediating bronchoconstriction via activation of a phosphatidylinositol-calcium second messenger system. Activation of the encoded receptor results in contraction and proliferation of bronchial smooth muscle cells, eosinophil migration, and damage to the mucus layer in the lung. Upregulation of this gene is associated with asthma and dysregulation may also be implicated in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X q13.2-q21.1 77768935 77823895 - 77526965 77583193 - 78271468 78327691 - 1580863;734996;4784257;4847792;4843543;4848936;4781441;4781446;4889116;4843953;4847129;4888517;4781449;4846883;4847512;4848616;4888514;4888515;4781453;4781742;4782072;4888516;4889117;4781451;4848274;4783198;4888512;6480464;6484113 11325876;11591188;11932261;12487226;12910720;14970333;15379985;16123393;16238585;16337014;16387808;16630147;16689996;16739673;16771777;16776674;17153879;17499745;17627772;17689528;18490405;18790177;18946234;20959046;2825489;8087328 10391245;10462554;11141472;11322876;11438743;11696047;12100046;12373000;12477932;12512030;12682264;12743568;12751740;12751768;12859443;14702039;14749922;15064240;15489334;15590629;15696087;15705869;15772651;16210619;16293801;16754659;16809637;16846449;17392478;17406065;17460547;17549353;17558309;17641958;17703412;17883728;17909024;17924829;17941281;18028998;18305014;18323532;18366797;18379861;18571838;18651869;18829683;19064572;19080797;19131661;19214143;19258923;19450127;19454674;19524426;19733299;19913121;20003473;20433311;20462748;20503287;20628086;21203429;21596548;21936770;22527886;22634478;22871757;23085741;23124618;23181793;23822826;23859232;23977066;24350867 10800 Q38Q88;Q38Q91;Q9Y271 ABBA01030082;ABBA01030083;ABBA01030084;ABBA01030085;ABBA01030086;ABBA01030087;ABBA01030088;ABBA01030089;ABBA01030090;ABBA01030091;ABBA01030092;AF119711;AF133266;AK023929;AK313643;AL445202;AMYH02039826;AX128495;AY242130;BC035750;CH471104;DQ131799;DQ131800;DQ131801;DQ131802;DQ131803;JA738689;NG_012809;NM_001282186;NM_001282187;NM_001282188;NM_006639 AAD42285;AAD42778;AAH35750;AAO92297;ABA01563;ABA01564;ABA01565;ABA01566;ABA01567;ABM81873;ABW03343;BAG36401;CAC38932;CCF76997;EAW98598;EAW98599;NP_001269115;NP_001269116;NP_001269117;NP_006630;Q9Y271 Hs.733809 2109213;2135817;5020242;5020423;5115198;5118412;5118618 AFM328YE9;CYSLTR1_9181;D11S1053;D11S2442;D11S2612;D11S3270;D11S3485 CYSLT1;CYSLT1R;CYSLTR;HG55;HMTMF81;MGC46139 G-protein coupled receptor HG55;LTD4 receptor;OTTHUMP00000023596;cysteinyl leukotriene D4 receptor APPROVED protein-coding ENSG00000173198 HGNC:17451 02188 300201 REVIEWED 1603334 CYSRT1 cysteine-rich tail protein 1 FOUND IN extracellular vesicular exosome; INTERACTS WITH calcitriol; dimethyl sulfoxide; ethyl methanesulfonate 9 9 9 q34.3 110634766 110635885 + 140119086 140120765 + 137224635 137226313 + 6480464 12477932;18187620;19056867;21078624;22939629 375791 A8MQ03;B8A4K4 ABBA01022750;AMYH02021927;BC018787;BC052297;BE563091;BX255925;BX322591;NM_199001;XM_005266084 A8MQ03;AAH52297;NP_945352;XP_005266141 Hs.495540;Hs.512469 C9orf169;MGC59937 UPF0574 protein C9orf169;hypothetical protein LOC375791 APPROVED protein-coding ENSG00000197191 HGNC:30529 14696 VALIDATED 8693279 CYYR1-AS1 cysteine/tyrosine-rich 1 antisense RNA 1 21 21 27765954 27941571 + 26405943 26569252 + 24981926 100996571 Q6ZUT2 ABBA01057221;AK125338;AMYH02037660;AMYH02037661;AMYH02037662;AP001596;AP001597;HG511680;HG511681;JF693915;XM_003846298;XM_003846631;XM_003960793 BAC86136;XP_003846346;XP_003846679;XP_003960842 uncharacterized protein LOC100996571 protein-coding HGNC:39560 616021 MODEL 1348510 CYTH3 cytohesin 3 This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 6422869 6533702 + 6201407 6312242 - 6161779 6272611 - 1580863;6480464;6484113 10652308;10828067;11445584;12477932;12606567;12690205;12853948;12920129;14702039;15489334;15878955;16189514;17398095;17846866;18084281;21139048;21932773;22454518;23000965;24816145;9072969;9707577;9742223 9265 B7Z2V9;O43739 ABBA01029359;AC004895;AC009412;AC092439;AJ005197;AJ223957;AK023609;AK295163;AK313728;AMYH02015167;AMYH02015168;AMYH02015169;AMYH02015170;AMYH02015171;AMYH02015172;BC008191;BC028717;BG620295;CB988199;CH236963;CH878731;NG_029882;NM_004227 AAH08191;AAH28717;AAS07510;ABM82662;ABM85838;ABW03411;BAG36470;BAH11995;CAA06434;CAA11686;EAL23717;EAW55046;NP_004218;O43739 Hs.487479 1649347;1663197;1699584;1750993;1786374;1788276;2108405;2139340;2187450;5019705 A009H19;Cda0ia03;D7S3123;G32542;GDB:1317150;PSCD3_8919;RH103393;SHGC-104885;SHGC-171945;STS-W02789 ARNO3;GRP1;PSCD3 ARF nucleotide-binding site opener 3;OTTHUMP00000115876;PH, SEC7 and coiled-coil domain-containing protein 3;cytohesin-3;general receptor of phosphoinositides 1;pleckstrin homology, Sec7 and coiled-coil domains 3;pleckstrin homology, Sec7 and coiled/coil domains 3 APPROVED protein-coding ENSG00000008256 HGNC:9504 05469 605081 REVIEWED 1351161 CYTL1 cytokine-like 1 C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 (MIM 142230) surface marker (Liu et al., 2000 [PubMed 10857752]).[supplied by OMIM, Mar 2008] 4 4 4 p16-p15 4913525 4918414 - 5016313 5021197 - 5014586 5019470 - 737633;6480464;8554872 12477932 10857752;12975309;15340161;15489334;21322034;21503106;21799806;22011669;22613542;22797702 54360 H0Y8Q4;H0Y9X7;Q9NRR1 ABBA01008254;AC108139;AF193766;AF274956;AMYH02008650;AY359101;BC031391;CH471131;HA640597;NM_018659;T83161 AAF73372;AAH31391;AAK07531;AAQ89459;ABM81716;ABM81718;ABM84872;CAZ39552;EAW82418;NP_061129;Q9NRR1 Hs.13872 2149396 SHGC-33462 C17;C4orf4 OTTHUMP00000155130;OTTHUMP00000217283;cytokine-like protein 1;cytokine-like protein C17 APPROVED protein-coding ENSG00000170891 HGNC:24435 16260 607930 VALIDATED 736054 CYTH1 cytohesin 1 The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 17 17 17 q25 73266644 73376096 - 76670130 76778376 - 78674048 78782294 - 1580863;6480464;6484113 10092663;10212218;10341214;10652308;10748148;10772823;10835351;11438522;11867758;12052827;12477932;12606567;12920129;14702039;1511013;15489334;15778383;17321526;17398095;17846866;19346499;20018626;21139048;21511340;21628335;22558309;22815959;23000965;23469018;24047446;24250222;24816145;8449036;8619474;8706128;9050849;9110174;9614087;9653114;9693361;9756891;9765275 9267 K7EJN5;K7EKA2;K7EL72;K7ENH6;K7ENQ8;K7ERV8;Q15438 AA030002;ABBA01002915;ABBA01002916;ABBA01002917;AC022966;AC099804;AF054997;AF125362;AK091369;AK123894;AK293894;AK296914;AK307917;AK316075;AK316277;AMYH02034065;AMYH02034066;AMYH02034067;AMYH02034068;AMYH02034069;AMYH02034070;BC038385;BC050452;BX339155;CH471099;DA125333;HY049953;M85169;NM_001292018;NM_001292019;NM_004762;NM_017456;XM_006722180;XM_006722181;XM_006722182;XM_006722183;XM_006722184;XM_006722185 AAA36602;AAF37737;AAF37738;AAH38385;AAH50452;ACE86875;ACE87563;BAG59469;BAH11620;BAH14446;BAH14648;EAW89530;EAW89531;EAW89532;NP_001278947;NP_001278948;NP_004753;NP_059430;Q15438;XP_006722243;XP_006722244;XP_006722245;XP_006722246;XP_006722247;XP_006722248 Hs.191215 1645280;1678781;1778822;2125705;2128646;2180312 G15943;G33144;RH64854;RH79076;SHGC-33563;SHGC-64299 B2-1;D17S811E;FLJ34050;FLJ41900;PSCD1;SEC7 OTTHUMP00000196778;OTTHUMP00000196779;PH, SEC7 and coiled-coil domain-containing protein 1;SEC7 homolog B2-1;cytoadhesin 1;cytohesin-1;homolog of secretory protein SEC7;pleckstrin homology, Sec7 and coiled-coil domains 1;pleckstrin homology, Sec7 and coiled-coil domains 1(cytohesin 1);pleckstrin homology, sec7 and coiled/coil domains 1 APPROVED protein-coding ENSG00000108669 HGNC:9501 01630 182115 REVIEWED 1354363 CZP2 cataract, zonular pulverulent 2 1598 HGNC:2659 1317500 CYTIP cytohesin 1 interacting protein The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq, Aug 2008] 2 2 2 q11.2 151884278 151913751 - 158271131 158300604 - 157414619 157444092 - 1580863;6480464;8554872 10343115;11867758;12052827;12477932;12606567;15489334;15815621;16344560;16702224;17207965;17577583;18029348;18926288;20379614;20530790;21562043;23223005;23469018;8241278 9595 C9JNN8;C9JRF8;C9JSM2;F8WF61;O60759 ABBA01004846;ABBA01004847;AC019201;AF068836;AK301544;AK312753;AMYH02005043;AMYH02005044;BC036449;CD642163;CH471058;DB219691;L06633;NM_004288 AAA16575;AAC19129;AAH36449;AAY14898;ADQ32297;BAG35620;BAG63041;EAX11447;NP_004279;O60759 Hs.270 1337466;2118476;2142868 D2S2564;D2S418;RH68990 B3-1;CASP;CYBR;HE;PSCDBP;cbp HE CYTHIP;OTTHUMP00000162805;cytohesin binder and regulator;cytohesin binding protein HE;cytohesin-1 interacting protein;cytohesin-associated scaffolding protein;cytohesin-binding protein HE;cytohesin-interacting protein;pleckstrin homology Sec7 and coiled-coil domains-binding protein;pleckstrin homology, Sec7 and coiled-coil domains, binding protein;pleckstrin homology, Sec7 and coiled/coil domains, binding protein APPROVED protein-coding ENSG00000115165 HGNC:9506 09192 604448 REVIEWED 1354035 CYYR1 cysteine/tyrosine-rich 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); cobalt dichloride; methylmercury chloride 21 21 21 q21.2 13021968 13129017 - 27838528 27945603 - 26466209 26573284 - 1580863;6480464 10830953;12036297;12062809;12477932;14702039;15489334;17442112;22837378;24981926;8125298 116159 A8MTU9;B7Z8X4;Q96J86 ABBA01057221;AF401639;AK054581;AK223576;AK304124;AK313231;AL833200;AMYH02037660;AMYH02037661;AMYH02037662;AP001596;AP001597;AY061853;BC036761;CH471079;JF693912;JF693913;JF693914;KC843341;KF154022;NM_052954;XR_244265;XR_430345;XR_430346;XR_430347 AAH36761;AAK84158;AAL35737;AFC01211;AFC01212;AGM21753;AHY03237;BAB70764;BAD97296;BAG36042;BAH14110;CAI46188;EAX09953;EAX09954;NP_443186;Q96J86 Hs.37445 1684453;1696318;1717223;1854582;2122001;2126028;2127621;2141356;2146234;2175871;2177730;5093748 A009W01;D21S1435;D8S2318;G32900;RH122026;RH94295;SHGC-34382;SHGC-34785;SHGC-53254;SHGC-77741;SHGC-87513;STS-H57961 C21orf95 OTTHUMP00000096356;OTTHUMP00000096357;cysteine and tyrosine-rich 1;cysteine and tyrosine-rich protein 1;cysteine and tyrosine-rich protein 1 isoform 1,2,2bis,3,4;cysteine and tyrosine-rich protein 1 isoform 1,2,3,4b;cysteine and tyrosine-rich protein 1 isoform 1,2,3b;cysteine and tyrosine-rich protein 1 isoform 1,2,4;proline-rich domain-containing protein protein-coding ENSG00000166265 HGNC:16274 616020 VALIDATED 1345777 CYTH4 cytohesin 4 The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with both ARF1 and ARF5 but is inactive with ARF6. The structures of this gene and CYTH1 are very similar. [provided by RefSeq, Aug 2008] 22 22 22 q12.3-q13.1 21479377 21512272 + 37678495 37711389 + 37282454 37315348 + 1580863;6480464 10591208;10652308;12477932;12920129;14702039;15302935;15342556;15461802;15489334;17398095;18084281;20379614;23000965;24816145;8593609 27128 B1AHH4;B1AHH5;B1AHH6;H0Y724;Q9UIA0 ABBA01055464;AF075458;AF125349;AK002145;AK024428;AK304453;AK315052;AMYH02038330;BC017780;BC033693;BC041161;BP306826;CH471095;CR456551;NM_013385;XR_430406;Z94160 AAF15389;AAF28896;AAH17780;AAH41161;BAA92107;BAB15718;BAG37529;BAG65270;CAG30437;CAK54582;CAK54881;EAW60154;EAW60155;EAW60156;NP_037517;Q9UIA0 Hs.170944 1675459;1678245;2124042;2175764;5015619 AL021672;D11S3114;HSCZSD102;RH11303;RH15766 CYT4;DJ63G5.1;PSCD4 OTTHUMP00000197834;PH, SEC7 and coiled-coil domain-containing protein 4;cytohesin-4;pleckstrin homology, Sec7 and coiled-coil domains 4;pleckstrin homology, Sec7 and coiled/coil domains 4 APPROVED protein-coding ENSG00000100055 HGNC:9505 07354 606514 REVIEWED 7490751 DAB1-AS1 DAB1 antisense RNA 1 1 1 58326275 58343982 + 57860543 57863114 + 12477932 101926890 ABBA01074668;AL109944;AMYH02001090;BC033978;BC047487;BU570679;DB458876;DB460815;NR_104362;NR_104363;NR_104364;NR_104365 Hs.662207 ncrna ENSG00000226759 HGNC:49443 VALIDATED 1606344 D2HGDH D-2-hydroxyglutarate dehydrogenase This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 236346244 236378542 + 242674030 242708231 + 241734579 241768816 + 6480464;7240710;8554872;8699517 11181995;12477932;14702039;15070399;15489334;15609246;15815621;16037974;16081310;16344560;16442322;17353931;19283509;20301334;20727073;21625441;21890473;24250222;24654937;7609436;8889548 728294 B3KSR6;B4E3K7;B5MCV2;F8WCF9;G5E9E8;H7BZ32;H7C021;H7C0N1;H7C290;H7C3L2;Q8N465 ABBA01006065;AC114730;AC133781;AF318334;AK027102;AK055846;AK091725;AK094149;AK096060;AK124189;AK304764;AK304773;AK311066;AK315188;AMYH02006119;AMYH02006120;BC031817;BC036604;BC071598;BC073980;CB997999;CH471063;CK300805;DA927909;NG_012012;NM_001287249;NM_152783;NR_109778;XM_006712726;XR_241434;XR_427110 AAH36604;AAH71598;AAL55841;AAX82020;BAC85798;BAG37628;BAG51584;BAG52404;BAG52828;BAG53205;BAG65519;BAG65528;EAW71290;EAW71291;EAW71292;NP_001274178;NP_689996;Q8N465;XP_006712789 Hs.516813 1849514;5015861;7185938 D10S16;G16336 D2HGD;FLJ42195;MGC25181 D-2-hydroxyglutarate dehydrogenase, mitochondrial;OTTHUMP00000200072;OTTHUMP00000200073;OTTHUMP00000200075 APPROVED protein-coding ENSG00000180902 HGNC:28358 14502 600721;609186 VALIDATED 737071 CYTH2 cytohesin 2 The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with ARF1, ARF3, and ARF6 and is 83% homologous to CYTH1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 19 19 19 q13.33 45837706 45850811 + 48972465 48985571 + 48469208 48482314 + 1580863;6480464;6484113;8554872 10198630;10531036;10652308;10708517;10748148;10801341;10806099;11533043;11850456;12052827;12438709;12477932;12606567;12641750;12920129;14654833;14702039;15277685;15489334;15778465;16027149;16189514;16415858;16484220;16650966;17398095;17474147;17623778;17786213;17846866;18094045;20016009;20153292;20525696;20936779;21118813;21139048;21307348;21789191;21900206;22002459;22341462;22454518;22659138;23000965;23095975;23255605;23288846;23545718;24083777;24250222;24816145;8706128;8945478;9050849;9417041;9476900;9510256;9550703;9925920 9266 F8W8E2;G5E9B7;M0R2J0;Q99418 AB209573;ABBA01032990;AC008403;AF318380;AK091443;AK292405;AK299590;AMYH02036299;BC004361;BC012771;BC035646;BC036615;BC038713;BC042153;BC047631;CH471177;DC344850;HG510916;NM_004228;NM_017457;U59752;U70728;X99753;XM_006723472;XM_006723473 AAB09591;AAB17532;AAH04361;AAH38713;AAL55887;ABM83491;ABM87855;BAD92810;BAF85094;BAG61522;CAA68084;EAW52349;EAW52350;EAW52351;NP_004219;NP_059431;Q99418;XP_006723535;XP_006723536 Hs.144011 2127067;2168161;5015619;5092722 A005S30;D11S3114;G32287;STS-U59752 ARNO;CTS18;CTS18.1;PSCD2;PSCD2L;SEC7L;Sec7p-L;Sec7p-like ARF exchange factor;ARF nucleotide-binding site opener;CTC-273B12.8;OTTHUMP00000196753;OTTHUMP00000196754;PH, SEC7 and coiled-coil domain-containing protein 2;cytohesin-2;pleckstrin homology, Sec7 and coiled-coil domains 2;pleckstrin homology, Sec7 and coiled-coil domains 2 (cytohesin-2);pleckstrin homology, Sec7 and coiled-coil domains 2-like;pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2);pleckstrin homology, sec7 and coiled/coil domains 2 APPROVED protein-coding HGNC:9502 03925 602488 REVIEWED 732352 DAB2IP DAB2 interacting protein DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010] 9 9 9 q33.1-q33.3 94977959 95196365 + 124329162 124547809 + 121566883 121785530 + 632628;1580863;6480464;8554872 11812785 11214970;11944990;12168954;12446720;12477932;12813029;14702039;14978793;15041729;15164053;15310755;15386433;15817459;16328005;16964243;17389591;18073375;18281285;18292600;18794092;19033661;19423541;19549807;19866473;19900942;19903888;19948740;20080667;20154697;20308539;20450899;20622881;21071540;21444365;22046421;22168621;22696229;22699663;22743059;23246699;23308052;23400010;23534349;23558076;23604126;23648065;23838317;23934736;24407031;24684735;24912918 153090 F6R503;F8WA47;H0Y3A3;Q5VWQ8 AB051530;ABBA01016222;ABBA01016223;ABBA01016224;ABBA01016225;ABBA01016226;AF367051;AK054851;AK096378;AK096391;AK124609;AK124610;AL357936;AL365274;AMYH02021582;AMYH02021583;AY032952;BC011496;BC037314;BC040911;BC146762;BM545676;BM546615;CH471090;DA373245;NM_032552;NM_138709;XM_005251719;XM_005251720;XM_005251721;XM_005251722;XM_005251723;XM_005251724;XM_005251725;XM_006716961;XM_006716962 AAI46763;AAK50336;AAM00371;BAB21834;BAG54058;EAW87501;EAW87502;EAW87503;EAW87504;NP_115941;NP_619723;Q5VWQ8;XP_005251776;XP_005251777;XP_005251778;XP_005251779;XP_005251780;XP_005251781;XP_005251782;XP_006717024;XP_006717025 Hs.522378 1335667;1656176;1661290;1729902;1735896;1766607;1787128;1787144;2128321;2155793;2174460;2179406;2190865 D9S1019E;D9S1034E;D9S123;D9S1685;D9S1927;MARC_10012-10013:996678884:1;RH16163;RH16168;RH48968;SHGC-149913;SHGC-155351;SHGC-155769;SHGC-34367 AF9Q34;AIP-1;AIP1;DIP1/2;FLJ39072;KIAA1743 ASK-interacting protein 1;ASK1-interacting protein 1;DAB2 interaction protein;DAB2-interacting protein;DOC-2/DAB-2 interactive protein;DOC-2/DAB2 interactive protein;OTTHUMP00000022028;OTTHUMP00000197225;OTTHUMP00000197226;disabled homolog 2 (drosophila) interacting protein;disabled homolog 2-interacting protein;nGAP-like protein APPROVED protein-coding ENSG00000136848 HGNC:17294 09903 609205 VALIDATED 1353804 DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p32-p31 55748375 57001233 - 57460453 58716211 - 56997906 58250539 - 1358468;1580863;2317783;2317973;6480464;6484113;7240710;8554872 12764038;15820235;17314278 10373567;10380922;10460257;10827173;10959835;11137154;11279201;11716507;11812785;11967127;12077184;12446734;12477932;12508107;12581169;12606711;12646221;12834112;14578885;14702039;14961563;15062102;15175076;15718228;15883038;16273093;16481437;16951405;17062576;17548821;17974915;18008369;18076569;18089558;18519826;19116273;19853035;19913121;20041166;20379614;20568118;20600896;20628086;21221998;21315259;21453247;21832049;22163036;22394407;22419519;22610502;22815893;23333377;23449627;23568457;24324551;24722188;9716537;9790777;9837937 1600 O75553;Q8NFD0;X6R4J9 AB210012;ABBA01074662;ABBA01074663;ABBA01074664;ABBA01074665;ABBA01074666;ABBA01074667;ABBA01074668;ABBA01074669;ABBA01074670;ABBA01074671;ABBA01074672;ABBA01074673;ABBA01074674;ABBA01074675;AF071062;AF525763;AK055341;AK095513;AK313144;AL080278;AL109944;AL137855;AL139219;AL161740;AL354883;AL355004;AL357373;AL359739;AL365367;AL390243;AL391826;AL442223;AL445193;AL627090;AL663085;AMYH02001081;AMYH02001082;AMYH02001083;AMYH02001084;AMYH02001085;AMYH02001086;AMYH02001087;AMYH02001088;AMYH02001089;AMYH02001090;AMYH02001091;AMYH02001092;AY174217;BC067445;BC067446;BC067447;BC112938;CH471059;CR933698;KF495960;KF495962;KF495963;KF495965;KF510732;NM_021080 AAC70068;AAH67445;AAH67446;AAH67447;AAI12939;AAM83107;BAE06094;BAG53075;EAX06637;EAX06638;NP_066566;O75553 Hs.477370 1299923;1336083;1336994;1337417;1338715;1339615;1340893;1646144;1673546;1690406;1690998;1692508;1692568;1692590;1692640;1693106;1693116;1693136;1693164;1693190;1705728;1705994;1706484;1713109;1716045;1724509;1728503;1732215;1739893;1755199;1755949;1757153;1759333;1766861;1768864;1777929;1781602;1848627;1849357;1852919;1855390;2114266;2117363;2117365;2118842;2123045;2132057;2132246;2133776;2133911;2134052;2137899;2147296;2155638;2158678;2165645;2169966;2170383;2183099;5015619;5015861;5022322;5037552;5128243;7184292;7184294;7185938 A005B44;AFMa230vh5;AL009501;AL009547;AL009666;AL009699;AL009709;AL009865;AL009894;AL033906;AL033931;AL033947;AL034063;AL034280;AL034286;AL034293;AL034309;AL034326;B335YE1;D10S16;D11S2560;D11S3114;D13S1284;D1S1150;D1S2160;D1S2234;D1S2356;D1S2447;D1S2457;D1S2513;D1S2650;D1S2665;D1S2867;D1S2890;D1S3021;D1S3042;D1S476;D1S85;D8S2279;G16323;G20250;G34831;G63689;RH120342;RH120961;RH122513;RH78213;RH79717;RH98681;SHGC-142109;SHGC-142769;SHGC-144583;SHGC-149740;SHGC-151172;SHGC-152268;SHGC-152967;SHGC-30038;SHGC-35085;SHGC-58121;SHGC-74884;SHGC-78630;SHGC-81128;SHGC-83452;WI-14549 Dab reelin signal transducer 1;OTTHUMP00000010045;OTTHUMP00000011753;OTTHUMP00000011801;disabled homolog 1 APPROVED protein-coding HGNC:2661 04582 603448;606763 REVIEWED 1346826 DAAM1 dishevelled associated activator of morphogenesis 1 Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012] 14 14 14 q23.1 39705036 39886100 + 59655329 59838123 + 59188611 59371405 + 1580863;2293492;6480464;6484113;6907045 17226800 10631086;11779461;12477932;12508121;14702039;15231748;15342556;15489334;16630611;17021034;17482208;17986009;18029348;18162551;18218625;19946888;20223827;20351293;20379614;20927366;21139048;21903422;21988832;22118674;22655072;22857009;22869791;24250222;24696301;24816145;9734811 23002 G3V275;Q9Y4D1 AB014566;ABBA01018269;ABBA01018270;AK021890;AK093813;AK123651;AK291790;AL133502;AL159140;AL359219;AMYH02029287;AMYH02029288;BC024781;BC038428;BC064999;BP199650;BQ050640;BX247986;CH471061;NM_001270520;NM_014992;XM_005267430;XM_005267431;XR_429298 AAH24781;AAH38428;AAH64999;BAA31641;BAC04230;BAF84479;BAG51056;CAD62320;EAW80747;EAW80748;EAW80749;NP_001257449;NP_055807;Q9Y4D1;XP_005267487;XP_005267488 Hs.19156 1679674;1680158;1687093;1752377;1776639;1855958;2126199;2132589;2132717;2136874;2157690;2159590;2162613;2176681;2180580;2184438;5024545;5093712 A008I37;D14S764;D1S3695;G17802;G32879;G35672;RH44697;RH44879;RH46585;RH69737;RH70494;RH80413;RH94331;SHGC-106332;SHGC-33661;SHGC-34719;STS-AA024987;T03425 FLJ41657;KIAA0666 OTTHUMP00000179033;OTTHUMP00000244971;disheveled-associated activator of morphogenesis 1;dishevelled-associated activator of morphogenesis 1 APPROVED protein-coding ENSG00000100592 HGNC:18142 09433 606626 REVIEWED 1348421 DACT1 dishevelled-binding antagonist of beta-catenin 1 The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 14 14 14 q23.1 39154745 39165027 + 59100786 59115039 + 58634068 58648321 + 1580863;6480464 11970895;12508121;12632086;15146197;15580286;16446366;17197390;18029348;18936100;19073771;19733838;20232357;20844743;21176356;21262972;21282530;21382349;21525190;21718540;21900206;22470507;22610794;23073659;23696638;24980960;8889548 51339 B7Z673;C9JGV7;Q9NYF0 ABBA01018264;AF251079;AI803159;AK299879;AK316164;AK316169;AK316237;AK316423;AL133312;AMYH02029283;AY603415;BK000256;BU742074;BX161433;CH471061;CN304224;DR001289;DR157190;NG_032025;NM_001079520;NM_016651;NR_046093;NR_046095;XM_006720166;XM_006720167 AAF65569;AAI72261;AAI72563;AAT99436;BAH13159;BAH14535;BAH14540;BAH14608;BAH14794;CAD61905;DAA00310;EAW80742;NP_001072988;NP_057735;Q9NYF0;XP_006720229;XP_006720230 Hs.48950;Hs.714204 1788730;2107993;5113196 DACT1_8041;RH135896;RH98203 DAPPER1;DPR1;HDPR1;THYEX3 DAPPER;FRODO;OTTHUMP00000179031;OTTHUMP00000201338;dapper antagonist of catenin 1;dapper homolog 1;dapper homolog 1, antagonist of beta-catenin;dapper homolog 1, antagonist of beta-catenin (xenopus);dapper, antagonist of beta-catenin, homolog 1;hepatocellular carcinoma novel gene 3 protein;heptacellular carcinoma novel gene 3 APPROVED protein-coding ENSG00000165617 HGNC:17748 09709 607861 REVIEWED 731451 DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 5 5 5 p13.1 39258704 39312863 - 39371776 39425335 - 39371674 39425233 - 1580863;6480464;6484113;6907045;7243156;7243155;7243158;7243246;7243154;7243841;8554872 15774263;17317100;20666606;21762377;21890121;22357915 10340382;10542228;10769163;11039902;11161789;11247302;11371563;11387212;11812785;11906161;11927540;11967127;12473651;12477932;12606711;12805222;12853125;12857860;12881709;14596919;14669280;15134832;15231748;15247260;15280374;15302935;15489334;15734730;15837803;15894542;16061224;16267015;16713569;16870701;16964243;16984970;17009406;17081983;17110338;17115114;17187061;17474147;17671122;18070591;18354201;18429820;18582465;19204726;19423540;19531213;19581412;19738201;19767570;19855435;19956625;20379614;20383146;20406964;20438785;20448150;20525238;20592473;20628624;20936779;21063401;21097498;21139048;21496867;21573318;21725366;21963094;21987572;21988832;21995445;22158540;22218591;22265793;22323290;22399289;22558309;22648170;22705885;22898784;22977233;23005040;23263486;23817569;23909735;24002585;24186266;24608456;24846918;8314147;8660969;8889548;9569023;9620555 1601 B2RAW0;D6REB1;D6RFF7;D6RGZ1;D6RIA5;P98082 ABBA01024210;ABBA01024211;AC008846;AC008916;AF188298;AF205890;AI739507;AK024965;AK130136;AK297984;AK314381;AMYH02011197;BC003064;BU742719;CB989218;CH471119;L16886;NG_030312;NM_001244871;NM_001343;U39050;U53446 AAA93195;AAA98975;AAC50824;AAF05540;AAF23161;AAH03064;ABM82798;ABW03444;BAG37007;BAG60293;EAW55989;EAW55990;EAW55991;EAW55992;EAW55993;EAW55994;NP_001231800;NP_001334;P98082 Hs.696631 1660350;1698976;1712212;1723227;1753439;2118602;2168757;2169185;2176131;5095030 DAB2;G54013;RH103057;RH122297;RH67769;SGC34152;SGC34180;SHGC-107361;SHGC-52617;WI-18094 DOC-2;DOC2;FLJ26626 OTTHUMP00000221141;OTTHUMP00000221142;OTTHUMP00000221143;differentially-expressed protein 2;disabled homolog 2;disabled homolog 2, mitogen-responsive phosphoprotein;mitogen-responsive phosphoprotein APPROVED protein-coding ENSG00000153071 HGNC:2662 03139 601236 REVIEWED 1601931 DACT3 dishevelled-binding antagonist of beta-catenin 3 ENCODES a protein that exhibits delta-catenin binding (ortholog); protein kinase A binding (ortholog); protein kinase C binding (ortholog); INVOLVED IN negative regulation of catenin import into nucleus; negative regulation of cell growth; negative regulation of Wnt signaling pathway; FOUND IN cytoplasm (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 19 19 19 q13.32 43954390 43967921 - 47150869 47164395 - 46647612 46661138 - 6480464 12477932;15489334;16881060;18538736;21718540;24250222 147906 G5E9H6;Q96B18 ABBA01040981;ABBA01040982;ABBA01040983;ABBA01040984;AC093503;AI769079;AMYH02036231;AMYH02036232;AMYH02036233;BC016161;BC034052;BE274342;BF515069;BX097198;CH471126;NM_001301046;NM_145056;XM_005258551 AAH16161;EAW57438;EAW57439;EAW57440;NP_001287975;NP_659493;Q96B18;XP_005258608 Hs.515490 1678397;5014039;5015404;5015619;5015861;5015959;5015961;5016478;5019070;5020740;5020946;5020948;5021872;5022200;5022322;5022578;5024413;5037552;5112017;7185938 D10S16;D10S2448;D11S2560;D11S3114;D15S1477;D1S1423;D22S1584;D8S2279;G35510;G44334;G44365;GDB:434012;L17705;L17809;L17877;L17971;L18426;RH99095;sY3084 DAPPER3;MGC15476;RRR1 OTTHUMP00000203030;OTTHUMP00000205159;antagonist of beta-catenin Dapper homolog 3;arginine rich region 1;arginine-rich region 1 protein;dapper antagonist of catenin 3;dapper homolog 3;dapper, antagonist of beta-catenin, homolog 3;thymus expressed gene 3-like APPROVED protein-coding ENSG00000197380 HGNC:30745 17505 611112 VALIDATED 6766448 DACT3-AS1 DACT3 antisense RNA 1 19 19 19 43968261 43978128 + 47163621 47180713 + 46660364 46677456 + 12477932 100506068 ABBA01040984;AC093503;AMYH02036233;AW269981;AW292135;BC043434;BX116982;HG510890;HG510891;KC877745;NR_040041;NR_040042 Hs.434327 APPROVED ncrna ENSG00000245598 HGNC:44120 VALIDATED 1321823 DACT2 dishevelled-binding antagonist of beta-catenin 2 ENCODES a protein that exhibits beta-catenin binding (ortholog); delta-catenin binding (ortholog); protein kinase A binding (ortholog); INVOLVED IN epithelial cell morphogenesis (ortholog); inner medullary collecting duct development (ortholog); negative regulation of cell adhesion (ortholog); PARTICIPATES IN transforming growth factor-beta Smad dependent signaling pathway; FOUND IN mitochondrion (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; hydralazine 6 6 6 q27 169426389 169438204 - 168693510 168720459 - 168292830 168319754 - 6480464;6484113 10737800;12477932;12632086;18370954;20379614;20877624;21718540;22806826;23244112;23496880;23754948;23803417 168002 Q5SW24 ABBA01000403;AF318336;AL606970;AMYH02014989;BC092498;BC111764;BC111790;BX329974;BX377941;CH471051;CV427932;DR004351;NM_001286350;NM_001286351;NM_214462;NR_104425 AAH92498;AAI11765;AAI11791;AAL55843;EAW47467;NP_001273279;NP_001273280;NP_999627;Q5SW24 Hs.673059 2110355 DACT2_3728 C6orf116;DAPPER2;DPR2;FLJ31232;MGC133141;MGC133142;RP11-503C24.7;bA503C24.7 OTTHUMP00000017658;dapper antagonist of catenin 2;dapper homolog 2;dapper homolog 2, antagonist of beta-catenin;dapper homolog 2, antagonist of beta-catenin (xenopus);dapper, antagonist of beta-catenin, homolog 2 APPROVED protein-coding ENSG00000164488 HGNC:21231 12345 608966 VALIDATED 1626568 DAD1P1 defender against cell death 1 pseudogene 1 12 12 12 p12.1 30217532 30218162 - 25070636 25071318 - 24917702 24918384 - 10812081;11912161;12752258 56286 ABBA01068010;AC026310;AMYH02026215;NG_027931 DAD-R;DAD1L;DADR APPROVED pseudo HGNC:18295 609860 VALIDATED 1344302 DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) Dystroglycan is a laminin binding component of the dystrophin-glycoprotein complex which provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. Dystroglycan 1 is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. The dramatic reduction of dystroglycan 1 in Duchenne muscular dystrophy leads to a loss of linkage between the sarcolemma and extracellular matrix, rendering muscle fibers more susceptible to necrosis. Dystroglycan also functions as dual receptor for agrin and laminin-2 in the Schwann cell membrane. The muscle and nonmuscle isoforms of dystroglycan differ by carbohydrate moieties but not protein sequence. Alternative splicing results in multiple transcript variants all encoding the same protein.[provided by RefSeq, Apr 2010] 3 3 3 p21 49470589 49537675 + 49506136 49573051 + 49468703 49535618 + 1580863;2314895;6480464;6907045;8699517;7240710;8554872 12177244 10207021;10355629;10684260;10767429;10769203;10903901;10932245;10988290;11342559;11423118;11430802;11502221;11717465;11724572;11798066;12140558;12386278;12477932;12592373;12598319;12795607;12920582;1406935;15146197;15175275;15210115;15342556;16254364;16344560;16466646;16502470;16575202;16709410;17005282;17012237;17196572;1741056;17474147;17516554;17628813;17640712;17993586;18087214;18201566;18341635;18456664;18691338;18764929;18939472;18983465;19109891;19199708;19244252;19322201;19348877;19367581;19531213;19587235;19913121;19946898;20044576;20307617;20338590;20350218;20507882;20512930;20625412;20626751;20628086;20736308;21139048;21203384;21255062;21347376;21741360;21890473;21906983;21931648;21963094;21987572;21987822;22082156;22138543;22307776;22405130;22801424;22939629;22964035;22996647;23000965;23223448;23940118;23951345;24041696;24052401;24077328;24361964;24792180;7592992;7619516;7744812;7774920;7925941;8017170;8205617;8268918;8798547;8996823;9153251;9169421;9417121;9851927;9851928 1605 C9J196;C9J6Z6;C9JEH2;C9JEN1;C9JLH6;C9JQL4;C9JY76;C9JYS1;Q14118 ABBA01024583;ABBA01024584;ABBA01024585;ABBA01024586;AC104452;AK291692;AK297802;AMYH02006752;AU140753;AW204012;BC012740;BC014616;BF476692;BM990874;BP200440;BX384229;BX402174;CH471055;CN282379;CX871468;DA223570;DA338757;DA451012;DA698126;DA843040;DA851197;DB065493;DB087722;DB089586;DB214431;DB214875;L19711;NG_013230;NM_001165928;NM_001177634;NM_001177635;NM_001177636;NM_001177637;NM_001177638;NM_001177639;NM_001177640;NM_001177641;NM_001177642;NM_001177643;NM_001177644;NM_004393 AAA81779;AAH12740;AAH14616;ABM84417;ABM87434;BAF84381;BAG60140;EAW64989;EAW64990;NP_001159400;NP_001171105;NP_001171106;NP_001171107;NP_001171108;NP_001171109;NP_001171110;NP_001171111;NP_001171112;NP_001171113;NP_001171114;NP_001171115;NP_004384;Q14118 Hs.76111 1653246;1712150;1737557;1742927;1793772;2134517;5015619 Bdy62f05;D11S3114;D3S3146;D3S3337;G54125;GDB:215839;PMC28400P1 156DAG;A3a;AGRNR;DAG;FLJ51254;MDDGC7;MDDGC9 OTTHUMP00000210844;OTTHUMP00000210857;OTTHUMP00000210858;dystroglycan APPROVED protein-coding ENSG00000173402 HGNC:2666 00546 128239;613818 REVIEWED 1314563 DAAM2 dishevelled associated activator of morphogenesis 2 ENCODES a protein that exhibits actin binding (inferred); Rho GTPase binding (inferred); INVOLVED IN actin cytoskeleton organization (inferred); determination of left/right symmetry (inferred); PARTICIPATES IN Wnt signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsane; arsenic atom 6 6 6 p21.2 41314047 41425869 + 39760159 39872653 + 39792366 39904877 + 1580863;6480464;6907045;8554872 11779461;12477932;12632087;14574404;1538749;19562778;20010834;24223803;9205841 23500 F2Z2Q2;Q86T65 AB002379;ABBA01050773;AK310941;AL136089;AL161439;AL590999;AL592158;AL596701;AL833083;AMYH02013592;AMYH02013593;AMYH02013594;AW273797;BC014275;BC047555;BC047575;BC078153;BC128388;BX647839;CH471081;FO393411;M78573;NM_001201427;NM_015345;XM_006715039;XM_006715040;XM_006715041;XM_006715042;XM_006715043;XM_006715044;XM_006715045;XM_006715046 AAH78153;ACE86663;ACE87347;BAA20835;CAD89973;CAI20010;EAX03995;EAX03996;NP_001188356;NP_056160;Q86T65;XP_006715102;XP_006715103;XP_006715104;XP_006715105;XP_006715106;XP_006715107;XP_006715108;XP_006715109 Hs.357128 1340539;1717135;1739543;1753689;1779206;1786736;1847151;2217246;7183774 D6S1516;D6S1641;DAAM2_3802;RH121488;RH78586;SHGC-107622;SHGC-152785;SHGC-155114 KIAA0381;MGC90515;RP1-278E11.1;dJ90A20A.1 OTTHUMP00000016351;OTTHUMP00000180661;disheveled-associated activator of morphogenesis 2;dishevelled-associated activator of morphogenesis 2 protein-coding ENSG00000146122 HGNC:18143 09434 606627 VALIDATED 1606339 DACH1 dachshund family transcription factor 1 This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 13 13 13 q22 52914100 53343311 - 72012098 72441330 - 71437966 71867192 - 6480464;8554872 10395809;10502110;11025202;11543628;11950062;12057194;12215533;12477932;14525983;14563999;14628042;14702039;15057823;15489334;15818552;16189514;16980615;17182846;17891780;18029348;18467491;18639284;18957060;19351840;19502783;19605405;19901965;19913121;20301552;20351289;20379614;20383146;20628086;20834067;20956529;21558809;21750150;21890473;22367319;22379998;22405764;22781112;22889921;22902925;23263486;23492369;24149323;24335958;24529757;9651501;9933575 1602 Q9UI36 AA007235;ABBA01050326;ABBA01050327;ABBA01050328;AF069509;AF102546;AF356492;AJ005670;AK001000;AL079278;AL138698;AL139186;AL163542;AL354995;AMYH02028234;AMYH02028235;AMYH02028236;AMYH02028237;AMYH02028238;AMYH02028239;BC021219;BM476209;BQ440916;BQ938052;BQ951567;CH471093;NG_011849;NM_004392;NM_080759;NM_080760 AAC33466;AAF01351;AAH21219;AAI66617;AAL08487;CAA06666;CAB45153;EAW80508;EAW80509;EAW80510;EAW80511;EAW80512;NP_004383;NP_542937;NP_542938;Q9UI36 Hs.129452 1334679;1337310;1646508;1708932;1716585;1727143;1738423;1849250;1851051;2107991;2114080;5022751 AB062990;D13S1087E;D13S1291;D13S1324;DACH1;DACH1_8290;G62825;RH121637;RH69841;SHGC-79519;STS-T48058;WI-18453 DACH;FLJ10138 OTTHUMP00000018493;OTTHUMP00000018494;dachshund homolog 1 2303085 MAMTS48_H APPROVED protein-coding ENSG00000276644 HGNC:2663 16031 603803 REVIEWED 1604501 DAGLB diacylglycerol lipase, beta ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN arachidonic acid metabolic process; PARTICIPATES IN N-cadherin signaling pathway; FOUND IN lysosomal membrane; plasma membrane; INTERACTS WITH 1-stearoyl-2-arachidonoyl-sn-glycerol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 7 7 7 p22.1 6247497 6286391 + 6448747 6487837 - 6409116 6448012 - 6480464;6484113 12477932;12690205;14610053;14702039;15489334;16169070;16303743;16806233;17897319;21139048;21890473;21963094;22190034;23000965;24097068;24250222;8681137 221955 B4DVJ1;C9JA85;E7ET49;F8WBN0;Q8NCG7 ABBA01056485;ABBA01056486;ABBA01056487;ABBA01056488;AC009412;AC072052;AF450090;AK074210;AK074584;AK074744;AK075128;AK090943;AK091228;AK093958;AK122748;AK298910;AK298955;AK301087;AK301104;AMYH02015173;AMYH02015174;AMYH02015175;BC027603;CB528359;CH236963;CH878731;CQ783180;CQ834678;DC303993;DC304654;F17444;NM_001142936;NM_139179 AAH27603;AAL47020;BAB85017;BAC04258;BAC11073;BAC11175;BAC11420;BAG52250;BAG52312;BAG53702;BAG61018;BAG61052;BAG62690;BAG62703;CAF86385;CAH05554;EAL23721;EAW55033;EAW55034;EAW55035;EAW55036;EAW55037;NP_001136408;NP_631918;Q8NCG7 Hs.487498 1849669;1854388;2132672;5093048;5109281 A009E42;D1S1425;G32489;GDB:4585605;GDB:4585739 FLJ33624;FLJ33909;FLJ45532;KCCR13L DAGLBETA;DGL-beta;OTTHUMP00000155168;OTTHUMP00000208768;OTTHUMP00000208770;sn1-specific diacylglycerol lipase beta protein-coding ENSG00000164535 HGNC:28923 17324 614016 VALIDATED 1343376 DAGLA diacylglycerol lipase, alpha This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010] 11 11 11 q12.2 58783359 58849887 + 61447905 61514474 + 61680433 61747002 + 6480464;6484113;8554872 12168954;12477932;14610053;16051747;18801880;21829377;22610502;22827915;24076015;9734811 747 F5GY58;Q9Y4D2 AB014559;ABBA01003205;AI702626;AMYH02024882;AP002380;AY275377;BC150176;BC150195;BC152453;BI963857;CH471076;NM_006133;XM_005274230 AAI50177;AAI50196;AAI52454;AAQ17119;BAA31634;EAW73959;EAW73960;EAW73961;EAW73962;NP_006124;Q9Y4D2;XP_005274287 Hs.241564 C11orf11;DAGL(ALPHA);DAGLALPHA;NSDDR DGL-alpha;OTTHUMP00000238143;chromosome 11 open reading frame 11;neural stem cell-derived dendrite regulator;sn1-specific diacylglycerol lipase alpha APPROVED protein-coding ENSG00000134780 HGNC:1165 07092 614015 REVIEWED 1603384 DANCR differentiation antagonizing non-protein coding RNA INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; coumestrol 4 4 4 q12 51075187 51076871 + 53578621 53580305 + 52712454 52714138 + 6480464 11752456;12477932;15489334;19531736;22302877;23438432;7788527 57291 P0C864 ABBA01003380;AC104066;AMYH02009209;BC015222;BC045566;D28589;NR_024031 P0C864 Hs.744077 1676366 RH26448 AGU2;ANCR;KIAA00167;KIAA0114;SNHG13 APPROVED ncrna ENSG00000226950 HGNC:28964 614625 VALIDATED 1354112 DACH2 dachshund family transcription factor 2 This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] X X X q21.3 85643005 86327361 + 85403455 86087605 + 86148451 86832602 + 1580863;6480464;8554872 11287190;12438735;12477932;14702039;15459172;15885503;16344560;16917507;18029348;19913121;20211142;20628086 117154 A8K3I1;D6REJ4;D6RFG7;H0Y912;Q1RMF5;Q96NX9 ABBA01051752;ABBA01051753;ABBA01051754;ABBA01051755;ABBA01051756;ABBA01051757;ABBA01051758;ABBA01051759;ABBA01051760;ABBA01051761;ABBA01051762;ABBA01051763;ABBA01051764;ABBA01051765;ABBA01051766;ABBA01051767;ABBA01051768;ABBA01051769;ABBA01051770;ABBA01051771;ABBA01051772;ABBA01051773;ABBA01051774;ABBA01051775;ABBA01051776;ABBA01051777;ABBA01051778;ABBA01051779;ABBA01051780;ABBA01051781;ABBA01051782;ABBA01051783;ABBA01051784;ABBA01051785;ABBA01051786;ABBA01051787;ABBA01051788;ABBA01051789;ABBA01051790;ABBA01051791;ABBA01051792;ABBA01051793;ABBA01051794;ABBA01051795;ABBA01051796;ABBA01051797;ABBA01051798;ABBA01051799;ABBA01051800;ABBA01051801;ABBA01051802;ABBA01051803;ABBA01051804;ABBA01051805;ABBA01051806;ABBA01051807;ABBA01051808;ABBA01051809;ABBA01051810;ABBA01051811;ABBA01051812;ABBA01051813;ABBA01051814;ABBA01051815;ABBA01051816;ABBA01051817;ABBA01051818;ABBA01051819;ABBA01051820;AF428101;AK055953;AK091842;AK290596;AK294498;AK295648;AK298787;AL023095;AL034406;AL109752;AL138747;AL157381;AL390058;AL591465;AL834456;AMYH02039899;AMYH02039900;AMYH02039901;AMYH02039902;AMYH02039903;AMYH02039904;AMYH02039905;AMYH02039906;AMYH02039907;AMYH02039908;AMYH02039909;AMYH02039910;AMYH02039911;BC040213;BC048423;BC114950;CH471104;KF459199;KF459202;KF510686;NG_012817;NM_001139514;NM_001139515;NM_053281;XM_005262068;Z95124;Z95325 AAI14951;AAL26561;BAB71054;BAC03761;BAF83285;BAG57717;BAG58518;BAG60925;CAD39116;EAW98554;EAW98555;EAW98556;NP_001132986;NP_001132987;NP_444511;Q96NX9;XP_005262125 Hs.86603 1335731;1341542;1341543;1668210;1675339;1700892;1703120;1703502;1737797;1758805;2127056;2131229;2142631;2182263;2218458;2220294;7186012 AB055268;AL022464;AL022471;D11S3398;DACH2_4666;DXS1002;DXS1168;DXS6829;DXS7129;DXS7785;DXS8109;DXS8114;RH104073;RH93234;SHGC-150959;SHGC-82623 FLJ31391;MGC138545 OTTHUMP00000023630;OTTHUMP00000023631;OTTHUMP00000217545;OTTHUMP00000217546;dachshund homolog 2 APPROVED protein-coding ENSG00000126733 HGNC:16814 06481 300608 REVIEWED 1350029 DAD1 defender against cell death 1 DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 2896859 2921191 - 23033807 23058143 - 22564907 22589237 - 6480464;6907045 10384128;10965038;12477932;12665801;15342556;15489334;15835887;18383209;19460752;19946888;20379614;20453000;20639865;20677014;21139048;21319273;21509594;21606320;21890473;21906983;21963094;23798571;24068947;24250222;24457600;7601483;7737422;8125298;8413235;9144178;9167970 1603 F5GXX5;F5H895;P61803;Q53G02 ABBA01061279;ABBA01061280;AC243965;AK223129;AL160314;AY259117;BC007403;BC009798;BC038575;BP198316;CH471078;CR407682;CR542204;D15057;NM_001344;U84213 AAB58540;AAH07403;AAH09798;AAO74827;ABM83794;ABM87116;BAA03650;BAD96849;CAG28610;CAG47001;EAW66252;EAW66253;NP_001335;P61803 Hs.82890 1702106;1745081;1789302;2114398;2137607;5015861;5020274;5037552;5120993;7185938 D10S16;D8S2279;G35480;G67928;GDB:593795;HUM000S317;L18441;SGC35549;UniSTS:99121 DAD-1;OST2 OTTHUMP00000164488;OTTHUMP00000239715;OTTHUMP00000239717;dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1;oligosaccharyl transferase subunit DAD1;oligosaccharyltransferase 2 homolog;oligosaccharyltransferase subunit 2 (non-catalytic) APPROVED protein-coding ENSG00000129562 HGNC:2664 02589 600243 REVIEWED 1352602 DALRD3 DALR anticodon binding domain containing 3 The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013] 3 3 3 p21.31 48996918 49015190 - 49052832 49058504 - 49015399 49021071 - 737633;6480464;8554872 12477932 14702039;15146197;16344560;19906709;21900206;21906983;21963094;21987572;22990118;24250222 55152 C9JA38;C9JJG6;H7C0T8;Q5D0E6 AA553582;ABBA01024618;AC137630;AK001358;AK093054;AK093204;AK093294;AK301352;AK308273;AMYH02006735;BC014099;BC032440;BC047683;BC054493;BX648719;CF455269;CN365208;DB045082;HY047953;NG_016282;NG_033126;NM_001009996;NM_001276405;NM_018114;XM_005265266;XM_005265267;XM_005265269;XM_005265270;XM_005265272;XM_005265274;XM_006713218;XM_006713219;XR_245144;XR_245146 AAH32440;AAH47683;AAH54493;ACT64557;ACT64558;BAA91647;BAC04095;BAC04123;BAH13463;NP_001009996;NP_001263334;NP_060584;Q5D0E6;XP_005265323;XP_005265324;XP_005265326;XP_005265327;XP_005265329;XP_005265331;XP_006713281;XP_006713282 Hs.654815;Hs.708076;Hs.745143 1679730;2110041;2176084;5112373 RH104439;RH80256;SHGC-76942;WDR6_9235 FLJ10496 DALR anticodon-binding domain-containing protein 3;OTTHUMP00000210518;OTTHUMP00000210519;OTTHUMP00000210520;OTTHUMP00000210521 protein-coding ENSG00000178149 HGNC:25536 08549 VALIDATED 1349838 DAOA D-amino acid oxidase activator This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011] 13 13 13 q33.2 86962575 86987748 + 106118216 106143383 + 105465867 105491034 + 1358627;6480464;7240710 14966479 11181995;12364586;12477932;12647258;14759258;15057823;15121480;15194506;15248869;15271585;15477870;15489334;15546984;15738936;16009449;16082701;16183301;16263850;16402132;16554747;16581030;16585465;16603472;16791105;16842973;17006672;17029202;17055463;17143075;17152404;17179078;17179866;17250995;17293043;17336946;17408693;17410640;17492767;17627036;17629951;17651942;17684499;17728673;17767147;17880399;18023149;18165970;18198266;18346999;18423426;18466879;18516516;18541412;18544534;18583979;18584117;18775646;19077230;19089835;19167508;19189879;19194963;19237267;19339914;19367581;19439994;19482054;19548263;19560517;19689504;19760675;19763662;19778423;19937977;20005295;20009237;20145586;20230869;20336655;20471098;20483474;20667145;20712760;20889312;20957330;21041608;21215384;21443574;21508934;21679769;21716263;22122005;22239582;22429365;22438288;22454242;22589738;22851402;22884423;23092656;23251661;23286827;23335491;23337943;23495896;23497497;23632455;23861766;24024966;24138986;24237903 267012 A2T115;M0R0L0;M0R2M6;M0R2W9;P59103;Q8IWM3 ABBA01027057;AL359751;AMYH02028656;AY138546;AY138547;AY170469;AY170470;AY170471;AY223901;BC121090;BC121091;CH471085;DQ343761;DQ357223;DQ386869;DQ386870;NG_012694;NM_001161812;NM_001161814;NM_172370;XM_005254042 AAI21092;AAN08432;AAN08433;AAO12727;AAO12728;AAO12729;AAO73604;ABC59904;ABC86111;ABD52720;ABD52721;EAX09077;EAX09078;EAX09079;EAX09080;EAX09081;NP_001155284;NP_001155286;NP_758958;P59103;XP_005254099 Hs.381382 1339623;1685584;2131135;2163589;2189887;2189929;2189935 8-130;99-15870;99-16038;AFM282wa5;D13S1809;D13S277;D13S797 G72;LG72;SG72 G72 transcript;OTTHUMP00000038758;OTTHUMP00000230730;schizophrenia- and bipolar disorder-associated protein G72 APPROVED protein-coding ENSG00000182346 HGNC:21191 07591 181500;607408 REVIEWED 1342724 DAND5 DAN domain family member 5, BMP antagonist This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 12970172 12975308 + 13080432 13085567 + 12969618 12974753 + 6480464 12477932;14525956;14702039;15254711;15466485;22901808 199699 K7EQF6;Q8N907 AB070695;ABBA01029763;AC092069;AK095926;AMYH02035562;BC025333;BC101800;BC113476;CH471106;NM_152654 AAI01801;AAI13477;ADR82845;BAC04651;BAC82440;EAW84336;EAW84337;NP_689867;Q8N907 Hs.331981 5022651;5037552 D11S2921;D8S2279 CER2;CERL2;CKTSF1B3;COCO;CRL2;GREM3;MGC126849;SP1;cerl-2 DAN domain family member 5;DAN domain family, member 5;DANTE;cerberus 2;cerberus-like 2;cerberus-like protein 2;cysteine knot superfamily 1, BMP antagonist 3;gremlin-3 APPROVED protein-coding ENSG00000179284 HGNC:26780 08788 609068 REVIEWED 1350103 DAO D-amino-acid oxidase This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008] 12 12 12 q24 108942740 108963590 + 109273806 109294710 + 108880030 108900934 + 1298635;1298636;1580863;6480464;6907045;7240710;8554872 1356107;8182053 11452983;12053066;12364586;12477932;14966479;15464270;15489334;15956068;16344560;16380905;16616139;16828464;17055463;17088322;17179078;17250995;17303072;17336946;17408693;17492767;17627036;17629951;17728673;17890006;18165970;18544534;18560437;18583979;18715757;19156168;19223009;19240061;19309736;19367581;19439994;19586533;19670078;19685198;19693267;19729970;19823762;20178365;20178891;20368421;20483168;20521334;20602615;20712760;20855273;21421061;21471957;21679769;21700703;21988832;22239582;22802136;22865246;23152756;23219954;23497497;23555897;23859606;24085347;24237903;24256253;24722188;2885296;2901986;8195119;8889548 1610 F8VV35;F8VVT2;F8W152;P14920 ABBA01053122;AC087893;AK312995;AMYH02027159;AMYH02027160;AX741655;AX741656;AX741658;AX741659;AX776478;AX776479;AX776480;AX786386;BC029057;BC074770;BM932083;BX538210;CH471054;D11370;DA085245;NG_023236;NM_001917;XM_005268692;XM_006719268;XM_006719269 AAH29057;AAH74770;ABM81765;ABM84921;BAA20974;BAG35832;CAD90933;CAD90934;CAD90936;CAD90937;CAD98069;CAE11742;CAE11743;CAE11744;CAE11959;EAW97834;EAW97835;EAW97836;EAW97837;EAW97838;NP_001908;P14920;XP_005268749;XP_006719331;XP_006719332 Hs.113227 1336508;1744011;2118474;2127210;2189835;2189837;7186758 27-2;27-29;D12S105;GDB:384833;SGC35423;STS-X13227 DAAO;MGC35381;OXDA D-amino acid oxidase;DAMOX;OTTHUMP00000240887;OTTHUMP00000240889 APPROVED protein-coding ENSG00000110887 HGNC:2671 15917 124050;181500 REVIEWED 4107151 DAOA-AS1 DAOA antisense RNA 1 13 13 q33.2 106111404 106158030 - 105459055 105505681 - 12364586;12647258;15194506;15271585;15477870;15546984;15653269;15738936;16402132;16791105;17179078;17179866;17651942;18165970;18775646;19189879;19937977;23337943 282706 Q8IU97 ABBA01027057;AL359751;AMYH02028656;AY138548;HG505866;NR_040247 AAN08434 Hs.558713 DAOA-AS;G30;RP11-166E2.1 DAOAAS APPROVED ncrna ENSG00000232307 HGNC:30243 07597 607415 VALIDATED 1607064 DAK dihydroxyacetone kinase 2 homolog (S. cerevisiae) This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4',5'-phosphate (aka cyclin FMN) from FAD. Several alternatively spliced transcript variants have been identified, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 11 11 11 q12.2 58436381 58451612 + 61100654 61120898 + 61333182 61353426 + 6480464;6907045;8554872 12477932;14702039;15489334;15771780;16289032;16344560;17600090;19056867;21139048;21890473;21906983;22505724;22863883;22939629;24289155;24569995;24816145;4688871;8125298 26007 E9PJG8;E9PQR1;H0YCY6;I3L252;Q3LXA3 ABBA01003198;AC244206;AK023915;AK094516;AK223580;AK308553;AL110260;AMYH02024878;AP003108;BC001341;BC120929;BF197629;CH471076;DA932478;DB056724;DQ138290;DQ344550;HB877020;HC934429;NM_015533;XM_005273898;XM_005273899;XM_006718496;XM_006718497 AAH01341;AAI20930;ABA10576;ABC70184;BAB14722;BAD97300;CAB53701;CBF62860;CBU87736;EAW73938;EAW73939;EAW73940;NP_056348;Q3LXA3;XP_005273955;XP_005273956;XP_006718559;XP_006718560 Hs.6278 1339814;1657406;2173721;2175966;2184485 A005B24;D2S2154;RH66357;STS-H20543;WI-21475 DKFZp586B1621;MGC5621;NET45 ATP-dependent dihydroxyacetone kinase;DHA kinase;Dha kinase/FMN cyclase;FAD-AMP lyase cyclic FMN forming;FAD-AMP lyase cyclizing;OTTHUMP00000235855;OTTHUMP00000235860;bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing);glycerone kinase APPROVED protein-coding ENSG00000149476 HGNC:24552 13180 615844 REVIEWED 6483483 DAP3P1 death associated protein 3 pseudogene 1 1 1 1 q21.3 128641741 128645125 + 155568604 155571988 + 155598813 155602197 + 12706105;16545939 359804 ABBA01016690;AL353807;AMYH02001951;AY135326;NG_002904 DAP3P;MRPS29P1 pseudo HGNC:17624 INFERRED 1313309 DAP3 death associated protein 3 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010] 1 1 1 q22 128731958 128781261 + 155657693 155708801 + 155689062 155739010 + 6480464;6484113 10903152;11162496;11248257;11279123;11376335;11402041;11543634;11753396;12099703;12359235;12477932;12706105;14702039;15175341;15179560;15302871;15679048;16196087;16710414;17353931;17613536;18029348;18227431;18976975;19064571;19103604;19287380;19454010;19536094;19644511;20020773;20079882;20186120;20563667;20877624;21139048;21906983;21963094;22287761;22904065;22939629;23443559;23473034;23667531;23892058;24244333;24300973;24654937;24816145;25027693;7499268;8125298;9284927 7818 P51398;V9GY11;V9GYA7;V9GYC9;V9GYF7;V9GYJ3;V9GYJ9;V9GYL4;V9GYL9;V9GYR8;V9GYW1;V9GZ03;V9GZ61 AB061210;ABBA01016688;AK022879;AK225869;AK293117;AK298201;AK302281;AL162734;AMYH02001952;AX431304;BC002358;BC107487;BC107488;BQ183744;BT019494;CH471121;CR749790;NM_001199849;NM_001199850;NM_001199851;NM_004632;NM_033657;U18321;X83544;XM_005245480;XM_005245481;XM_005245482;XM_006711527;XM_006711528 AAA57443;AAI07488;AAI07489;AAV38301;BAB54960;BAF85806;BAG60471;BAG63624;CAA58535;CAD37278;CAH18651;EAW53043;EAW53044;EAW53045;EAW53046;EAW53047;EAW53048;EAW53049;EAW53050;EAW53051;NP_001186778;NP_001186779;NP_001186780;NP_004623;NP_387506;P51398;XP_005245537;XP_005245538;XP_005245539;XP_006711590;XP_006711591 Hs.516746 1339714;1771460;1855287;2154893;2219066;5015619;5016478;5037552 D11S3114;D1S1595;D1S1847E;D1S2140;D8S2279;DAP3_2922;GDB:434012;RH50308 DAP-3;DKFZp686G12159;FLJ12817;MGC126058;MGC126059;MRP-S29;MRPS29;S29mt;bMRP-10 28S ribosomal protein S29, mitochondrial;OTTHUMP00000033480;OTTHUMP00000033481;death-associated protein 3;ionizing radiation resistance conferring protein;mitochondrial 28S ribosomal protein S29 APPROVED protein-coding ENSG00000132676 HGNC:2673 03646 602074 REVIEWED 5686986 DAPK1-IT1 DAPK1 intronic transcript 1 (non-protein coding) 9 q21.33 90168369 90169374 + 22078386 100506897 BQ025444;XR_171053;XR_171790;XR_172487 Hs.656160;Hs.744071 1669718 STS-N34470 ncrna HGNC:43591 1603932 DAPL1 death associated protein-like 1 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN apoptotic process (inferred); cell differentiation (inferred); G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH MeIQx; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q24.1 153268619 153289288 + 159651829 159672506 + 158795317 158815985 + 6480464 12107413;12477932;20800603;23251661 92196 A0PJW8;B8ZZC6;H0Y3U5;M1E9T5;M1EA23 ABBA01004853;AC079877;AF086541;AMYH02005058;AY324399;BC127682;BC127683;BC140719;CD675155;CH471058;HQ179934;HQ179935;HQ179939;NM_001017920 A0PJW8;AAI27683;AAI27684;AAI40720;AAQ93012;AEM53914;AEM53915;AEM53919;EAX11424;NP_001017920 Hs.59761 OTTHUMP00000204750;death-associated protein-like 1;early epithelial differentiation-associated protein protein-coding ENSG00000163331 HGNC:21490 18709 VALIDATED 737267 DAP death-associated protein This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] 5 5 5 p15.2 10716485 10798530 - 10679342 10761387 - 10679230 10761275 - 1300389;1302217;1580863;6480464;8554872 7828849;8530096 1087798;12477932;15342556;15489334;15729359;16169070;16602700;17081983;20237496;20379614;20537536;21297633;21906983;22798505;23128233;23934736;24250222;24270644;24816145;9916995 1611 B4DQ75;P51397 ABBA01020607;AC012629;AK298670;AK311783;AMYH02010853;AMYH02010854;AMYH02010855;AY266680;BC002726;BI823002;BP265421;BT006925;CH471102;CR542184;DC395850;NG_011546;NM_001291963;NM_004394;X76105 AAH02726;AAO89078;AAP35571;BAG34726;BAG60837;CAA53713;CAG46981;EAX08056;NP_001278892;NP_004385;P51397 Hs.75189 1341237;1656360;1740355;1740365;1749911;1795246;2112198;2127525;2172794;7186374 D5S2187E;D5S2193E;D5S2480;D5S2726;D5S2772;D5S432;DAP_18;RH45554;SHGC-111632 DAP-1;MGC99796 OTTHUMP00000161670;OTTHUMP00000221331;death-associated protein 1 APPROVED protein-coding ENSG00000112977 HGNC:2672 02977 600954 REVIEWED 1312311 DAPK2 death-associated protein kinase 2 This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008] 15 15 15 q22.31 41078636 41217972 - 64199235 64363614 - 63907036 64071406 - 6480464;6907045;8554872 10376525;10629061;11230133;11839660;11839665;11980920;12087472;12477932;14702039;15489334;15761153;16756490;17081983;17347302;18521079;18957423;18976975;19221469;21408167;21832049;22160140;23700042;24038216;24163421 23604 H0YKW8;H0YL86;H0YLP5;H0YMK1;Q9UIK4 AB018001;ABBA01038903;ABBA01038904;AC015914;AC021541;AF052941;AK026801;AK094290;AK310967;AMYH02030592;AMYH02030593;AMYH02030594;BC114506;BC114951;CH471082;GU056176;KF456069;NM_014326;XM_005254265;XM_005254266;XM_005254268;XM_005254270;XM_006720449;XM_006720450;XM_006720451;XM_006720452;XM_006720453 AAC35001;AAI14507;AAI14952;ADD83109;BAA88063;EAW77657;EAW77658;EAW77659;NP_055141;Q9UIK4;XP_005254322;XP_005254323;XP_005254325;XP_005254327;XP_006720512;XP_006720513;XP_006720514;XP_006720515;XP_006720516 Hs.237886 1334653;1335031;1720675;1759575;2130342;2158030;2187625;5015961;5016478;5022322 D11S2560;D15S1018;D15S1229;D15S1477;D15S644;D15S993;G09463;G59152;GDB:434012;SHGC-150910 DRP-1;DRP1;MGC119312 DAP kinase 2;DAP-kinase-related protein 1;DAP-kinase-related protein 1 beta isoform;OTTHUMP00000163874 APPROVED protein-coding ENSG00000035664 HGNC:2675 09905 REVIEWED 731385 DAPK3 death-associated protein kinase 3 Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3895592 3906968 - 3958451 3971097 - 3958453 3971099 - 1580863;734875;6480464;6907045;8554872 12124340 10356987;10580117;10602480;12242277;12477932;12560483;12917339;14702039;15001356;15292222;15489334;15546961;15910542;16756490;17126281;18084323;18239682;18515077;18995835;19117059;19953087;20085750;20854903;21139048;21454679;21487036;21906983;21963094;21988832;22145905;22939624;23146908;23326517;23454120;24633547;9488481;9747039 1613 M0QYW5;M0QYY8;M0R0D0;O43293 AB007144;AB022341;AB265224;ABBA01002860;AC011488;AI654829;AK027590;AK074799;AK093792;AK097643;AMYH02035267;AMYH02035268;BC126430;BC126432;CH471139;CQ782734;DA748997;HY104892;NM_001348;XM_005259508;XM_005259509 AAI26431;AAI26433;ADR83007;BAA24955;BAA81746;BAF34614;BAG51355;BAG52004;BAG52765;CAF85967;EAW69276;NP_001339;O43293;XP_005259565;XP_005259566 Hs.631844 1847810 RH47447 FLJ36473;ZIP;ZIPK;dlk DAP kinase 3;DAP-like kinase;MYPT1 kinase;ZIP kinase isoform;ZIP-kinase;death-associated like kinase;zipper-interacting protein kinase APPROVED protein-coding ENSG00000167657 HGNC:2676 04478 603289 REVIEWED 1605663 DARS2 aspartyl-tRNA synthetase 2, mitochondrial The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009] 1 1 1 q25.1 146903269 146937151 + 173793719 173827682 + 173824581 173858544 + 6480464;7240710;8554872;8699517 12477932;14702039;15489334;15779907;16710414;17384640;18029348;19209188;19592391;20506600;20811636;20877624;20878420;21139048;21749991;21792730;21815884;21890473;21988832;22023289;22797925;23000965;23216004;23275545;23652419;24501781;24566671;24654937;24778252;24816145;9878398 55157 Q6PI48;Q9H9J7;Q9H9M6 ABBA01027897;ABBA01027898;ABBA01027899;ABBA01027900;AK001376;AK022754;AK290873;AL109921;AL519850;AL833633;AMYH02002157;BC045173;CH471067;NG_016138;NM_018122;XM_005245299;XM_006711426;XM_006711427 AAH45173;BAA91658;BAB14228;BAF83562;EAW90960;EAW90961;EAW90962;NP_060592;Q6PI48;XP_005245356;XP_006711489;XP_006711490 Hs.647707 1710188;2162271;2175669 RH70100;SHGC-52636;SHGC-82365 ASPRS;FLJ10514;LBSL;MT-ASPRS;RP3-383J4.2 OTTHUMP00000032692;aspartate tRNA ligase 2, mitochondrial;aspartate--tRNA ligase, mitochondrial;aspartyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000117593 HGNC:25538 07677 610956;611105 REVIEWED 4144446 DAP3P2 death associated protein 3 pseudogene 2 2 2 2 q31.2 165964515 165965029 + 172347927 172348441 + 171491417 171491931 + 12706105 359774 ABBA01020726;AC007969;AMYH02005223;AY135327;NG_002890 MRPS29P2 APPROVED pseudo HGNC:29762 INFERRED 8695150 DARS-AS1 DARS antisense RNA 1 2 2 q21.3 136742973 136765042 + 135985176 136007542 + 15146197;8889548 101928243 ABBA01028154;AC093391;AI001788;AI302747;AMYH02004860;BM674995;BM717501;CN314536;HG494629;NR_110199;NR_110200 Hs.602178 ncrna ENSG00000231890 HGNC:40170 VALIDATED 1323186 DAPK1 death-associated protein kinase 1 Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 9 9 9 q21.33 60684038 60893765 + 90112601 90323566 + 87497228 87708651 + 1300389;1580863;6480464;6484113;6907045;8554872 8530096 10629061;11485996;11579085;11809677;12031912;12082610;12351649;12370243;12477932;12708480;12730201;12792765;12820391;12911633;14504087;14530257;14612952;14767518;15001356;15018706;15048887;15146197;15342556;15492995;15616583;15634757;15729359;15809761;16085644;16132846;16142356;16213824;16344560;16756490;16847012;16858683;16951219;17056602;17209433;17244621;17319784;17324927;17324930;17339337;17477876;17523078;17540169;17592394;17683884;17690039;17703233;17868341;17895359;17953697;18026971;18195017;18292548;18336955;18349282;18422656;18425396;18519826;18583991;18799028;18813964;18830724;18974095;18995835;19018866;19094228;19148529;19180116;19196380;19212339;19237746;19259700;19267229;19272801;19395874;19506903;19521987;19627511;19628771;19695681;19712061;19778817;19795445;19878310;19917631;19957692;20005690;20018188;20098747;20103772;20220139;20360646;20379614;20389280;20413850;20471512;20514412;20534741;20574532;20630662;20655775;20677014;20682398;20704749;20811724;21115918;21134130;21139048;21152427;21152877;21159370;21167819;21172653;21176336;21212658;21287504;21302620;21311567;21353277;21497122;21516484;21725354;21749573;21797120;21918973;21922274;21965790;21979297;22087225;22095288;22096027;22116316;22136354;22160140;22230750;22293537;22371043;22420243;22465880;22490852;22490855;22549447;22552543;22610502;22785394;22827846;22988864;23175185;23245584;23275143;23383130;23438478;23478405;23545262;23702034;23800064;23806751;23948915;24071855;24314662;24337450;24559316;24811488;7828849;8889549 1612 B4DHI4;F8WCQ3;P53355;Q59H88;Q5T8F1 AA846231;AA854055;AB208871;ABBA01016326;ABBA01016327;ABBA01016328;AK127855;AK295119;AK296839;AL160279;AL161787;AL591852;AMYH02021163;AMYH02021164;BC113660;BC143730;BC143733;BC143759;BG110813;BP202018;BT006935;CD642694;CH471089;CN347006;CR749834;CX758421;CX872304;DA234399;DA855348;DA887235;DC340223;DQ436495;DR002874;EF090258;H77515;NG_029883;NM_001288729;NM_001288730;NM_001288731;NM_004938;X76104;XM_005251757;XM_006716988 AAI13661;AAI43734;AAI43760;AAP35581;ABD96827;ABK78671;ADR83287;BAC87163;BAD92108;BAG58146;BAH12440;CAA53712;CAH18690;EAW62725;EAW62726;EAW62727;EAW62728;NP_001275658;NP_001275659;NP_001275660;NP_004929;P53355;XP_005251814;XP_006717051 Hs.380277;Hs.693441 1338296;1653182;1669718;1710920;1721529;1738281;1763037;1765351;1766075;1775703;1855727;2108745;2120018;2150016;2156260;2161543;2181595;5017833 D9S2045;D9S257;D9S316;DAPK1;DAPK1_7778;G59619;RH18220;RH45604;RH69306;SHGC-146783;SHGC-148843;SHGC-149458;SHGC-2351;SHGC-33610;SHGC-84082;STS-N34470;STS-X76104;WI-17027 DAPK;DKFZp781I035 DAP kinase 1;OTTHUMP00000021604;OTTHUMP00000216191;OTTHUMP00000216192;OTTHUMP00000216193 APPROVED protein-coding ENSG00000196730 HGNC:2674 02902 600831 REVIEWED 1320943 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides ENCODES a protein that exhibits phosphatidylinositol-3,4,5-trisphosphate binding; phosphatidylinositol-3,4-bisphosphate binding; INVOLVED IN signal transduction (inferred); PARTICIPATES IN phosphatidylinositol 3-kinase class I signaling pathway; B cell receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; INTERACTS WITH arsenous acid; diarsenic trioxide; hydrogen peroxide 4 4 4 q25-q27 98035400 98088767 + 100737957 100791347 + 99816824 99870190 + 6480464;6484113;6907045;8554872 10432293;10770799;10880360;10983984;11001876;11042152;11524430;11781373;12101241;12477932;14563325;15247305;15489334;15494510;16273093;17823121;21930970;21988832;8889548 27071 B4DW38;J3KNB3;Q9UN19 ABBA01063674;AF161551;AF163254;AF178987;AF186022;AK301355;AL713793;AMYH02009802;AP001962;BC012924;BM968883;CA428013;CH471057;DN995752;NM_014395 AAD49697;AAF14578;AAF29038;AAF44351;AAH12924;ABM84502;ABM85591;BAG62900;CAD28547;EAX06108;EAX06109;EAX06110;EAX06111;NP_055210;Q9UN19 Hs.436271;Hs.708484 1677328;1723723;1724489;1754717;1757551;2176889;2218460;5024761 DAPP1_4668;RH121432;RH122503;RH36905;SHGC-133078;SHGC-145018;SHGC-64080;SHGC-67302 BAM32;DKFZp667E0716;hDAPP1 B-cell adapter molecule of 32 kDa;OTTHUMP00000219463;OTTHUMP00000219464;b lymphocyte adapter protein Bam32;dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide protein-coding ENSG00000070190 HGNC:16500 05773 605768 VALIDATED 1602062 DAW1 dynein assembly factor with WDR repeat domains 1 FOUND IN cilium (inferred); INTERACTS WITH benzo[a]pyrene; copper atom; copper(0) 2 2 2 q36.3 222505710 222558395 + 228736325 228789131 + 227871609 227924310 + 6480464 12477932;14702039;15489334;15815621;16093345;17549794;19287380;20568242;21953912;23602568;24250222 164781 C9JBF9;C9JP90;F8WCV0;G5EA46;Q8N136 ABBA01050167;ABBA01050168;ABBA01050169;AC073065;AK097409;AK098821;AK127882;AK301861;AMYH02005927;BC036377;CH471063;NM_178821;XR_241298 AAH36377;AAX93215;BAC05039;BAC05425;BAC87175;BAG63301;EAW70880;EAW70881;EAW70882;EAW70883;EAW70884;NP_849143;Q8N136 Hs.424594 1688861 RH99279 FLJ25955;ODA16;WDR69 OTTHUMP00000164246;OTTHUMP00000204161;WD repeat domain 69;WD repeat-containing protein 69;outer row dynein assembly 16 homolog;outer row dynein assembly protein 16 homolog APPROVED protein-coding ENSG00000123977 HGNC:26383 08079 PROVISIONAL 732389 DARS aspartyl-tRNA synthetase This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 2 2 2 q21.3 130374979 130453946 - 136664252 136743254 - 135906684 135985652 - 1580863;6480464;8699517;7240710;8554872 10200289;11829477;12477932;12824064;15489334;16189514;16196087;1651330;17220478;17474147;18029264;18029348;18457437;18781797;19380743;19738201;19946888;20473970;21081666;21110914;21139048;21145461;21890473;21900206;21906983;22190034;22268729;22623428;22863883;22939629;23000965;23125841;23254330;23609930;23643384;23956138;24816145;2674137;7806521;8125298;8449960;9878398 1615 C9J7S3;C9JLC1;C9JQM9;H7BZ35;H7C278;P14868 ABBA01028154;ABBA01028155;ABBA01028156;ABBA01028157;AC011999;AC093391;AK129521;AK222476;AK290607;AMYH02004858;AMYH02004859;AMYH02004860;AY762100;BC000629;BC107749;BI753718;BT006710;BU615302;BX101357;CH471058;CR749809;DA597505;J05032;NG_034149;NM_001293312;NM_001349 AAA35567;AAH00629;AAI07750;AAP35356;AAX07827;AAY15029;AAY24055;ABM81667;ABM84838;BAD96196;BAF83296;CAH18669;EAX11617;EAX11618;EAX11619;EAX11620;NP_001280241;NP_001340;P14868 Hs.503787;Hs.595819 1669385;1851596;2125483;2156055 D2S2723;RH17849;SHGC-3975;STS-AA018181 DKFZp781B11202;HBSL;MGC111579;aspRS OTTHUMP00000162534;aspartate tRNA ligase 1, cytoplasmic;aspartate--tRNA ligase;aspartate--tRNA ligase, cytoplasmic;aspartyl-tRNA synthetase, cytoplasmic;cell proliferation-inducing gene 40 protein;cell proliferation-inducing protein 40 APPROVED protein-coding ENSG00000115866 HGNC:2678 04361 603084;615281 REVIEWED 1349512 DAZ1 deleted in azoospermia 1 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. [provided by RefSeq, Jul 2008] Y Y Y q11.223 9781782 9805293 + 25275502 25345239 - 23129355 23199092 - 6480464;8699517 10857750;10903443;10936047;11058556;11095434;11390979;11688365;11694340;11869379;11870237;11883873;12039700;12477932;12511597;12752250;12801575;12815422;15066457;15066460;15081113;15253135;15476166;15571102;16001084;16021857;16078663;16085382;16275261;16491269;16580401;16674553;16777954;16805138;16848763;16946704;16963411;17412880;17416365;17453684;17609244;17881721;18326516;18385127;18440997;19030103;19223287;19865085;20039973;20170395;20301513;20663794;21906983;23422238;23512232;23696539;7670487;8661148;8845845;8896558;8968756;8981970;9321470;9700189 1617 Q9NQZ3 ABBA01001351;ABBA01117667;AC010088;AC053490;AF271087;AF271088;AF414183;AK310133;AY466627;AY466628;AY466629;AY466630;AY547293;AY571147;BC114927;DB461291;NG_004755;NG_008286;NM_004081;U66077;XM_005262578;XM_005262579;XM_006709927 AAF91405;AAF91406;AAI14928;AAL24501;AAR31726;AAR31727;AAR31728;AAR31729;AAS55959;AAS78586;NP_004072;Q9NQZ3;XP_005262635;XP_005262636;XP_006709990 Hs.522868;Hs.70936 5017302;5104936;5105313;5107369;5113109;5113120;5113990;5115001;5123504 DAZ-SNV_II;G38349;G38350;G65827;G65834;RH38677;RH47942;RH65618;SHGC-35663 DAZ;FLJ17175;SPGY OTTHUMP00000040904;deleted in azoospermia protein 1 APPROVED protein-coding ENSG00000188120 HGNC:2682 15958 400003 REVIEWED 1347546 DAZ2 deleted in azoospermia 2 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10297100 10301345 + 25365604 25437503 + 23219457 23291356 + 6480464 10857750;10903443;10936047;11058556;11095434;11390979;11688365;11694340;11869379;11870237;11883873;12477932;12511597;12752250;12801575;12815422;15066457;15066460;16491269;16580401;16674553;16963411;17416365;19223287;20301513;21906983;23512232;24878370;7670487;8896558;8968756;9321470;9557839;9700189 57055 B4DZ07;E7ENA6;E7EU39;E9PBY2;I3L0B6;Q13117 AC006983;AC007039;AC053490;AF248480;AF414184;AK302398;AK302690;BC113006;NG_004755;NG_028267;NM_001005785;NM_001005786;NM_020363;U21663 AAB02393;AAF91329;AAI13007;AAL24502;BAG63919;BAH13695;NP_001005785;NP_001005786;NP_065096;Q13117 Hs.592257 5017302;5104936;5105313;5107369;5113109;5113120;5113990;5115001;5123504 DAZ-SNV_II;G38349;G38350;G65827;G65834;RH38677;RH47942;RH65618;SHGC-35663 DAZ3;MGC126442;pDP1678 OTTHUMP00000040905;OTTHUMP00000040906;OTTHUMP00000040907;deleted in azoospermia protein 2;deleted in azoospermia protein 3 APPROVED protein-coding ENSG00000205944 HGNC:15964 11848 400026 REVIEWED 1344002 DAZ3 deleted in azoospermia 3 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. [provided by RefSeq, Jul 2008] Y Y q11.223 26909216 26959639 - 24763069 24813492 - 1580863;6480464 10857750;10903443;10936047;11058556;11095434;11390979;11688365;11694340;11869379;11883873;12477932;12511597;12752250;12801575;12815422;14639527;15066457;15066460;16963411;17416365;19223287;20301513;21906983;7670487;8661148;8845845;8896558;8968756;9321470;9700189 57054 E7ERQ6;E7ETR3;Q9NR90 ABBA01001351;AC010089;AF248481;BC036648;BC113005;NG_004755;NG_028145;NM_020364 AAF91330;AAI13006;NP_065097;Q9NR90 Hs.592257;Hs.70936 5017302;5104936;5105313;5107369;5113109;5113120;5113990;5115001;5123504 DAZ-SNV_II;G38349;G38350;G65827;G65834;RH38677;RH47942;RH65618;SHGC-35663 MGC126441;pDP1679 OTTHUMP00000042590;deleted in azoospermia protein 3 APPROVED protein-coding ENSG00000187191 HGNC:15965 15959 400027 REVIEWED 1345950 DAXX death-domain associated protein This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] 6 6 6 p21.3 34840701 34845159 - 33286335 33290793 - 33318558 33323016 - 1580863;6480464;6484113;6907045;7421504;9068945;8554872 21784126;23288364 10393185;10444590;10525530;10669754;10684855;10698492;11003656;11034606;11112409;11193028;11244500;11483955;11495919;11716541;11773067;11799127;11842083;11907324;11948183;12033769;12097584;12140263;12150977;12477932;12482920;12482984;12529400;12595526;12917339;12953102;12954772;12968034;14499622;14517282;14557665;14574404;14637155;14678985;14978102;14990586;15016915;15033475;15128734;15240113;15247905;15252119;15258908;15302935;15339933;15350595;15364927;15489334;15572661;15604093;15613319;15637079;15795247;15861194;15878163;15919932;15983381;16088932;16287980;16331268;16406523;16455055;16475184;16524876;16569639;16679534;16731959;16810318;16818774;16845383;16861237;16982744;17035242;17081983;17081986;17210684;17289031;17360386;17362989;17389020;17404597;17419608;17471023;17596307;17661348;17707345;17938171;17942542;17947514;18003619;18029348;18031230;18200667;18218622;18480450;18480747;18508722;18558084;18566590;18583933;18691969;18932217;19106612;19308989;19369322;19372739;19394292;19465479;19471022;19563778;19690170;19789334;19821084;19837266;19851445;19862764;19944121;20014998;20097304;20147399;20153724;20185822;20211142;20444888;20484509;20504901;20651253;20697732;20927612;20936779;20972456;21134643;21252315;21252943;21383010;21474068;21482821;21526495;21556766;21572393;21573799;21643015;21693764;21719641;21724829;21779164;21816224;21832009;21890473;21900206;21906983;21963094;21988832;22102817;22170762;22185778;22199361;22505724;22572957;22575867;22578841;22609355;22614022;22664104;22952844;22976298;22976303;23000965;23038753;23075851;23135716;23142979;23221555;23221561;23222847;23239745;23295648;23329831;23348568;23391111;23405218;23408605;23455924;23536002;23539629;23542781;23548901;23642739;23660862;23819605;23830076;23954140;24148618;24209620;24398161;24530302;24637324;24816145;8125298;9215629;9407001;9521053;9545376;9645950;9743501 1616 A2AB94;B4E1C1;F5ANJ6;F5ANJ7;Q4VX54;Q53F85;Q5STR5;Q9UER7 AA533586;AB209493;ABBA01038141;ABBA01038142;AF006041;AF015956;AF039136;AF050179;AF097742;AK223404;AK292187;AK303767;AK303854;AK309612;AK313034;AL662820;AL662827;AMYH02013484;BC000220;BC073776;BC109073;BC109074;BM997178;BX248088;CH471081;CR457085;CR759786;CR759817;DC345308;DC359186;HQ436528;HQ436529;NM_001141969;NM_001141970;NM_001254717;NM_001350;XM_005248860;XM_005275218;XM_005275354;Z97183;Z97184 AAB63043;AAB66585;AAB92671;AAC39853;AAC72843;AAH00220;AAI09074;AAI09075;ABZ92478;AEC33235;AEC33236;BAD92730;BAD97124;BAF84876;BAG35867;BAG64733;BAG64795;CAB09986;CAB09989;CAG33366;EAX03722;EAX03723;EAX03724;NP_001135441;NP_001135442;NP_001241646;NP_001341;Q9UER7;XP_005248917;XP_005275275;XP_005275411 Hs.336916 1793548 PMC230316P1 BING2;DAP6;EAP1;MGC126245;MGC126246;hDaxx CENP-C binding protein;ETS1-associated protein 1;Fas-binding protein;OTTHUMP00000029289;OTTHUMP00000029290;death domain-associated protein 6;death-associated protein 6;fas death domain-associated protein APPROVED protein-coding ENSG00000204209 HGNC:2681 04424 603186 REVIEWED 1354496 DAZ4 deleted in azoospermia 4 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011] Y Y Y q11.223 9781864 9805456 + 26979967 27053187 + 24833820 24907040 + 6480464 10857750;10903443;10936047;11058556;11095434;11390979;11688365;11694340;11869379;11870237;11883873;12477932;12511597;12752250;12801575;12815422;14639527;15066457;15066460;15489334;16963411;17416365;19223287;21906983;24878370;7670487;8896558;8968756;9321470;9700189;9847074 57135 E7ENA5;E7EU38;Q658T2;Q86SG3 AA608617;ABBA01133600;AC006338;AC006982;AC010089;AF248482;AF248483;AL833003;BC047480;BC047617;HC006898;HC044617;NG_004755;NM_001005375;NM_020420;XM_005262602;XM_005262604;XM_005262605;XM_005262606;XM_006709928;XR_250607 AAF91331;AAF91332;AAH47480;AAH47617;CAH56318;CBH19254;CBH30638;NP_001005375;NP_065153;Q86SG3;XP_005262659;XP_005262661;XP_005262662;XP_005262663;XP_006709991 Hs.522868;Hs.70936 5017302;5104936;5105313;5107369;5113109;5113120;5113990;5115001;5123504 DAZ-SNV_II;G38349;G38350;G65827;G65834;RH38677;RH47942;RH65618;SHGC-35663 pDP1680;pDP1681 OTTHUMP00000042591;OTTHUMP00000042592;OTTHUMP00000042593;deleted in azoospermia 1;deleted in azoospermia protein 4 APPROVED protein-coding ENSG00000205916 HGNC:15966 13117 REVIEWED 1352695 DAZL deleted in azoospermia-like The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 3 3 3 p24.3 16567358 16586066 - 16628299 16647006 - 16586792 16605499 - 1580863;6480464 10340994;10393944;10527983;10689024;10775651;10819456;10819768;10857750;10903443;11058556;11390979;11499325;11675467;11872225;11956819;12029071;12200456;12414900;12477932;12511597;15066460;15220464;15489334;15520024;15595957;15607425;15879466;16001084;16123080;16328470;16344560;16573709;16730721;16751776;16884537;17918711;18023443;18062861;18088417;18178196;19327014;19342699;19865085;19881148;20008336;20462796;20685756;21906983;22162380;22329245;22752612;23666240;23678708;24015185;24086306;24459810;8896558;8968755;8968756;9143498;9288969;9294855;9700189 1618 E7EV40;Q92904 ABBA01025129;AC010139;AK303026;AK310341;AMYH02006345;BC027595;BX648638;CH471055;DB080081;HC006900;NG_023329;NM_001190811;NM_001351;U65918;U66078;U66726;U77467;U77476 AAB39935;AAB63596;AAB84361;AAC50813;AAH27595;ABW03677;BAG64152;CAI45996;CBH19255;EAW64278;EAW64279;NP_001177740;NP_001342;Q92904 Hs.131179 1795676;5113109 DAZL__1187;RH65618 DAZH;DAZL1;MGC26406 DAZ homolog;DAZ-like autosomal;DAZLA;OTTHUMP00000211385;OTTHUMP00000211386;SPGY-like-autosomal;SPGYLA;deleted in azoospermia-like 1;deleted in azoospermia-like autosomal;germline specific RNA binding protein;spermatogenesis gene on the Y-like autosomal APPROVED protein-coding ENSG00000092345 HGNC:2685 09029 601486 REVIEWED 1313216 DAZAP1 DAZ associated protein 1 In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1341862 1369681 + 1407584 1435683 + 1407569 1435687 + 1580863;6480464;6907045 10857750;11604102;12185095;12477932;14702039;15489334;15744350;16055720;16209998;16848763;18029348;18391021;19285026;19322201;19338310;19738201;21139048;21145461;21576381;21693764;21858080;21890473;21906983;21963094;22053931;22174317;22505724;22623428;23111326;23658607;23738518;24250222;24332808;24457600;24550385;24816145 26528 K7EK33;K7EQ02;K7EQ55;Q96EP5 ABBA01002641;ABBA01002642;ABBA01002643;ABBA01002644;ABBA01002645;AC005329;AC027307;AF181719;AI802551;AK056850;AK092894;AK124583;AK125032;AL360261;AMYH02035150;AMYH02035151;AY681494;BC012062;BI909277;BU557183;CH471139;HB886995;HC944404;NG_029884;NM_018959;NM_170711;XM_005259530;XM_005259531;XM_005259532;XM_005259534;XM_005259535;XM_005259536 AAF78364;AAH12062;AAW01463;ABZ92479;BAB71295;BAG52625;CBF67654;CBU92528;EAW69501;EAW69502;EAW69503;EAW69504;NP_061832;NP_733829;Q96EP5;XP_005259587;XP_005259588;XP_005259589;XP_005259591;XP_005259592;XP_005259593 Hs.222510 1336257;1652899;1659724;1680331;1684509;1699626;1703202;1736496;1759549;1766921;1856702;2107137;2169211;2219068 A008W37;D15S702E;D19S826;D19S883;DAZAP1_4669;GAMT__6784;RH103416;RH79693;SGC31985;SHGC-152408;SHGC-153221;SHGC-24159;STS-F03983;WI-22459 MGC19907 DAZ-associated protein 1;deleted in azoospermia associated protein 1;deleted in azoospermia-associated protein 1 APPROVED protein-coding ENSG00000071626 HGNC:2683 08462 607430 REVIEWED 1316588 DAZAP2 DAZ associated protein 2 This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 12 12 12 q12 50433966 50441964 + 51632508 51640501 + 51238724 51246717 + 1580863;6480464 10857750;11342538;12477932;14530442;14702039;15231748;15489334;15629043;16169070;16189514;16344560;16713569;17207965;17935665;17984221;18762249;18854154;19060904;19304756;19322201;20211142;21274613;21900206;21906983;21963094;21988832;22070932;22505724;22792345;23277564;24722188;7584044;8889548 9802 E9PE89;F8VUW5;Q15038;S4R3Q0 ABBA01031607;AC046135;AC139768;AK095963;AK125855;AK290119;AK293330;AK303828;AMYH02026484;AY430097;BC002334;BC007900;BM982980;BU662353;BX647278;CD697667;CH471111;D31767;DA900264;DC303613;DC341917;NM_001136264;NM_001136266;NM_001136267;NM_001136268;NM_001136269;NM_014764 AAH02334;AAH07900;AAR11454;ADQ31699;BAA06545;BAF82808;BAG56846;BAG64775;EAW58181;EAW58182;NP_001129736;NP_001129738;NP_001129739;NP_001129740;NP_001129741;NP_055579;Q15038 Hs.369761 1655057;1657465;1680813;1685766;1760775;1770115;2165635;2171187;2171189;2189347;5015961 A006B21;D12S1777;D12S1951;D15S1477;G07246;G15861;G20676;MARC_2333-2334:991932698:1;RH80756;RH94292;SHGC-144292 KIAA0058;MGC14319;MGC766;PRTB DAZ-associated protein 2;OTTHUMP00000241783;OTTHUMP00000241785;OTTHUMP00000241786;OTTHUMP00000241787;OTTHUMP00000241788;OTTHUMP00000246201;deleted in azoospermia associated protein 2;deleted in azoospermia-associated protein 2;proline-rich transcript in brain;proline-rich transcript, brain-expressed protein APPROVED protein-coding ENSG00000183283 HGNC:2684 08463 607431 REVIEWED 7240980 DBF4P2 DBF4 zinc finger pseudogene 2 2 2 112315977 112317514 - 111558400 111559937 - 100420180 ABBA01012911;AC017002;AMYH02004576;NG_023599 APPROVED pseudo HGNC:45060 INFERRED 7399487 DBET D4Z4 binding element transcript (non-protein coding) 4 4 q35 190986386 190987068 + 190065231 190065913 + 22541069;22710800 100419743 ABBA01039628;AMYH02010728;JQ639078;NR_121644;U85056 DBE-T ncrna HGNC:43904 614865 VALIDATED 1605697 DBF4 DBF4 zinc finger ENCODES a protein that exhibits enzyme activator activity (inferred); nucleic acid binding (inferred); zinc ion binding (inferred); INVOLVED IN DNA replication (inferred); G1/S transition of mitotic cell cycle (inferred); mitotic cell cycle (inferred); PARTICIPATES IN cell cycle pathway, mitotic; FOUND IN nucleoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; aflatoxin B1 7 7 7 q21.3 82210104 82243416 + 87505544 87538856 + 87876229 87909541 + 6480464;6907045 10373557;10517317;10523313;10846177;12015319;12420215;12441400;12477932;12535533;12614612;12791985;12853948;12968034;14702039;15226314;15231747;15302935;15374998;15489334;15707391;16826239;16899510;16912045;17276990;17768177;18286467;18503552;18536724;18714392;19111665;19744312;19864417;21036905;21536671;22123827;22990118;24240236;24287290 10926 B4DXK0;B7Z8C6;F8WF77;Q9UBU7 AB028069;AB028070;ABBA01045863;AC003083;AC005164;AF160249;AF160876;AK022969;AK292569;AK302010;AK303175;AMYH02016224;BC014909;BC022811;BC035632;BC036045;BC047693;CH236949;CH471091;NM_006716;XM_005250120;XM_005250121;XM_005250122;XM_006715843 AAD41911;AAD45357;AAH36045;AAH47693;AAS07418;AAS07442;BAA78326;BAA78327;BAF85258;BAG51144;BAG63412;BAH13912;EAL24170;EAW76930;EAW76931;EAW76932;NP_006707;Q9UBU7;XP_005250177;XP_005250178;XP_005250179;XP_006715906 Hs.485380 1756923;1774543;1857956;2108701;2154340 ASK_7983;GDB:1318404;SHGC-144089;SHGC-53468;SHGC-64833 ASK;CHIF;DBF4A;ZDBF1 DBF4 homolog;DBF4 zinc finger A;DBF4-type zinc finger-containing protein 1;OTTHUMP00000161661;OTTHUMP00000207082;activator of S phase kinase;chiffon homolog A;protein DBF4 homolog A;zinc finger, DBF-type containing 1 APPROVED protein-coding ENSG00000006634 HGNC:17364 10371 604281 VALIDATED 1344043 DBIL3 diazepam binding inhibitor-like 3 1625 HGNC:2693 1353371 DBIL4 diazepam binding inhibitor-like 4 2185430 1626 HGNC:2694 6482177 DAZAP2P1 DAZ associated protein 2 pseudogene 1 2 2 2 q33.1 196815947 196818510 - 203064186 203066744 - 202199463 202202021 - 645805 ABBA01062554;AC079354;AMYH02005557;NG_008858 1680813 RH80756 pseudo HGNC:43869 INFERRED 7240988 DBF4P1 DBF4 zinc finger pseudogene 1 10 10 10 q21.3 59197995 59198732 - 65928714 65929451 - 64168953 64169690 - 11181995 645084 ABBA01019514;AC018977;AMYH02023209;CH471083;NG_006968 EAW54248 1774543;1857956 SHGC-53468;SHGC-64833 APPROVED pseudo HGNC:45059 INFERRED 2301570 DBH-AS1 DBH antisense RNA 1 INTERACTS WITH quercetin 9 9 9 q34.2 107066595 107069497 - 136519709 136522530 - 133654587 133657408 - 6480464 10686491;12477932 138948 ABBA01021975;AF129263;AF129264;AL365494;AMYH02021835;BC067277;BQ445882;NR_102735 Hs.223858 1298115;1741189 DBH;GDB:178536 NCRNA00118 APPROVED ncrna ENSG00000225756 HGNC:24155 VALIDATED 1604789 DBF4B DBF4 zinc finger B This gene encodes a regulator of the cell division cycle 7 homolog (S. cerevisiae) protein, a serine-threonine kinase which links cell cycle regulation to genome duplication. This protein localizes to the nucleus and, in complex with the cell division cycle 7 homolog (S. cerevisiae) protein, may facilitate M phase progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 17 17 17 q21.31 39496480 39540137 + 42785976 42829637 + 44691254 44758412 + 6480464 12065429;12477932;12975309;14702039;15668232;15717329;15782160;16189514;16344560;18029348;19060904;19111665;23455924;23602568 80174 B4E099;Q8NFT6 ABBA01028351;ABBA01028352;ABBA01028353;ABBA01028354;ABBA01028355;AC005180;AC091152;AF448801;AF465820;AK023149;AK125771;AK295296;AK303282;AMYH02033494;AMYH02033495;AMYH02033496;AW290902;AY358101;BC016158;BC026999;BC033660;BM476186;CH471178;DA475446;NM_025104;NM_145663;NR_036623;XM_006722098;XM_006722099;XM_006722100;XM_006722101;XM_006722102;XM_006722103;XM_006722104;XM_006722105;XM_006722106 AAH16158;AAL75985;AAM73808;AAQ88468;BAB14431;BAG54245;BAG58278;BAG64361;EAW51581;EAW51582;EAW51583;EAW51584;EAW51585;EAW51586;EAW51587;NP_079380;NP_663696;Q8NFT6;XP_006722161;XP_006722162;XP_006722163;XP_006722164;XP_006722165;XP_006722166;XP_006722167;XP_006722168;XP_006722169 Hs.369998 1298232;1335848;2157311;2180872;5015619;5015861;5015961;5016851;5109281;7185938 D10S16;D11S3114;D15S1477;D17S1188;D17S1217;D17S1861;D17S579;D1S1425;RH80031 ASKL1;CHIFB;DRF1;FLJ13087;MGC15009;ZDBF1B ASK-like protein 1;DBF4 homolog B;Dbf4-related factor 1;OTTHUMP00000230815;OTTHUMP00000230817;OTTHUMP00000230819;activator of S phase kinase-like protein 1;activator of S-phase kinase-like protein 1;chiffon homolog B;zinc finger, DBF-type containing 1B APPROVED protein-coding ENSG00000161692 HGNC:17883 16840 611661 REVIEWED 736659 DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. [provided by RefSeq, Jul 2008] 9 9 9 q34 107048360 107071346 + 136501485 136524466 + 133636363 133659344 + 1625572;1625569;1625571;1358584;1358583;1580863;4139904;5129480;5129693;5130724;5129527;5129235;2311578;5129213;5129515;5129691;5129211;5129532;5129234;5129683;6480464;6907045;7240710;8554872;8699517 12707943;12969876;14991826;16133787;16252068;16396986;17095019;18356740;18457899;18823370;18987458;19120095;19276553;19342614;19968782;20554938;20596792;20673300;20814407 10075201;10391209;10391210;10490716;10686491;10887204;11140838;11170900;11857564;11904129;11904130;11943777;12360111;12477932;12488060;12555232;12624717;12660802;12730829;12778453;12833405;12960750;14718574;15028279;15077009;15102340;15164053;15167700;15205702;15489334;15498570;15505174;15767706;15796803;16032443;16097364;16152569;16272956;16335952;16389711;16616730;16616989;16741944;16831359;16876143;17131588;17157269;17171650;17187001;17200925;17457369;17503472;17503507;17625104;17728669;17853400;18030083;18032384;18081028;18172755;18173840;18207134;18270970;18275850;18330705;18338249;18404133;18486967;18722802;18821565;18821566;18973765;18982239;19016604;19058789;19086053;19107190;19152006;19156168;19219470;19352218;19360691;19415821;19506906;19560519;19604093;19673036;19757024;19772578;19851296;19874574;19913121;19944766;20006992;20009769;20035263;20127808;20129829;20198315;20301647;20350135;20418890;20430042;20464528;20468064;20498626;20505554;20602615;20621148;20628086;20691427;20732903;20734064;20931244;21070631;21126477;21209083;21471955;21509519;21538940;21668745;21685187;21688126;21761554;22028891;22408582;22445279;22513716;22760354;22761865;22765285;22841130;22871345;22875483;22895683;22906516;23054588;23261162;23384717;23416088;23458673;23464991;23510745;23559427;23692268;23707643;23906995;23951054;23962674;24391727;24809448;2880016;2922261;3180847;3443096;3972830;7759508;7918370;8546710;9688506;9763470 1621 P09172;Q5T382 ABBA01021975;AC000404;AC001227;AC002101;AL365494;AMYH02021835;BC017174;CD014125;CH471090;NG_008645;NM_000787;X13255;X13256;X13257;X13258;X13259;X13260;X13261;X13262;X13263;X13264;X13266;X13267;X13268;X14357;Y00096 AAH17174;ABM84556;ABW03484;CAA31631;CAA31632;CAA68285;EAW88099;NP_000778;P09172 Hs.591890 1298115;1741189;1744689;1744711;1744713;1795678 DBH;DBH_579;GDB:178536;GDB:551079;GDB:554666;GDB:554668 DBM OTTHUMP00000022501;dopamine beta hydroxylase;dopamine beta-hydroxylase APPROVED protein-coding ENSG00000123454 HGNC:2689 01963 223360;609312 REVIEWED 4889622 DBIL5P2 diazepam binding inhibitor-like 5 pseudogene 2 INTERACTS WITH silicon dioxide 2 2 2 p15 63189534 63191225 - 63344986 63346677 - 63117851 63119542 - 6480464 11024294;12174196 100169989 Q9NRE5 ABBA01075398;AC009501;AF229803;AMYH02003955;NR_036635 AAF79121 Hs.606147 ELP1P pseudo ENSG00000242412 HGNC:38518 VALIDATED 1347265 DBIP1 diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 1 6 6 6 q14.1 80561469 80562012 - 80146402 80146945 - 79436685 79437228 - 2185430;7789980 1624 ABBA01040409;ABBA01040410;AL078601;AMYH02013969;L27274;NG_001112 1741487 GDB:181242 DBIL2 APPROVED pseudo HGNC:2692 INFERRED 1350044 DBIP2 diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 2 5 5 5 q14.1 75801973 75802442 - 79898981 79899450 - 80603162 80603631 - 1623 ABBA01062044;AC008434;AMYH02011672;NG_003024 DBIL1 APPROVED pseudo HGNC:2691 INFERRED 4889641 DBIL5P diazepam binding inhibitor-like 5, pseudogene INTERACTS WITH 8-bromo-3',5'-cyclic AMP; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 p13.3 667992 670668 + 655573 658576 + 752333 755336 + 6480464 11024294;16344560;23535732 100131454 ABBA01054619;AC087392;AF229804;AMYH02032721;CH471108;DA393494;NR_024120 AAF79122;EAW90652 Hs.662289 1697540;1736923 D17S1569;RH102276 ELP2P pseudo ENSG00000231784 HGNC:38519 VALIDATED 1604304 DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 FOUND IN cytoplasm (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 16 16 16 q24.3 75136096 75150124 - 90071279 90085937 - 90004865 90020131 - 6480464 12477932;14702039;16341674;16344560;19077176;19340012;19349376;8889548 79007 H3BLZ2;H3BS76;Q9H9R9 ABBA01014117;AC092143;AC133919;AK022644;AK090696;AK090965;AK096507;AK298932;AK308737;AL539365;AL713678;AMYH02032690;BC000700;BI916419;BM682437;BM747302;CH471184;DA041774;DA713832;HY166977;NM_001042610;NM_001288708;NM_001288709;NM_024043 AAH00700;BAB14152;BAG61035;CAH10640;EAW66663;EAW66664;EAW66665;EAW66666;NP_001036075;NP_001275637;NP_001275638;NP_076948;Q9H9R9 Hs.301394 1683351;2119992;2139272;2178349 RH41854;RH64905;RH69962;SHGC-61113 FLJ12582;MGC3101 OTTHUMP00000176844;OTTHUMP00000176845;dysbindin domain-containing protein 1 protein-coding ENSG00000003249 HGNC:28455 08327 VALIDATED 736302 DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q12-q21 113450643 113456260 + 120124504 120130122 + 119366924 119372551 + 1580863;6480464;8699517 10737800;12015306;12396232;12477932;12665801;1440058;14602800;1469708;14755437;15342556;15489334;15815621;16042405;16055366;16169070;16341674;16344560;16904689;16908521;17044054;17207965;17262885;17266179;18240651;19086053;19088433;19815704;19874574;20345851;20511713;21139048;21448843;21890473;21900206;21906983;22053931;23000965;23251661;23727119;24080521;24250222;24816145;24818357;2881742;3020548;3413112;3525533;7527352;7534063;7626442;7789980;7794798;8043504;8245508;8396705;8634149;8964506;9022045;9477145;9657356 1622 B8ZWD1;B8ZWD8;P07108 AA096224;ABBA01045926;AC016736;AM000001;AMYH02004646;BC006466;BC062996;BM768076;BP294452;BP318721;BU599304;CH471103;CR456956;DA226476;FM213122;FM213123;FM213124;FM213125;FM213126;FM213127;FM213128;FM213129;FM213130;FM213131;L76366;M14200;M15887;NM_001079862;NM_001079863;NM_001178017;NM_001178041;NM_001178042;NM_001178043;NM_001282633;NM_001282634;NM_001282635;NM_001282636;NM_020548;NR_104221 AAA35788;AAA52171;AAH62996;AAY14873;ADQ33132;CAG33237;CAJ00736;CAR82404;CAR82405;CAR82406;CAR82407;CAR82408;CAR82409;CAR82410;CAR82411;CAR82412;CAR82414;EAW95214;EAW95215;EAW95216;NP_001073331;NP_001073332;NP_001171488;NP_001171512;NP_001171513;NP_001171514;NP_001269562;NP_001269563;NP_001269564;NP_001269565;NP_065438;P07108 Hs.78888 1741487;1775790;2145860;2167424 D2S1604E;D2S2591;GDB:181242;WI-18848 ACBD1;ACBP;CCK-RP;EP;MGC70414 GABA receptor modulator;OTTHUMP00000203626;OTTHUMP00000203627;OTTHUMP00000203628;OTTHUMP00000203629;acyl coenzyme A binding protein;acyl-CoA-binding protein;acyl-Coenzyme A binding domain containing 1;cholecystokinin-releasing peptide, trypsin-sensitive;diazepam binding inhibitor;diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein);diazepam-binding inhibitor;endozepine APPROVED protein-coding ENSG00000155368 HGNC:2690 08832 125950 REVIEWED 4145469 DBIP3 diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 3 16 16 16 p13.3 4387303 4387706 + 4180593 4180996 + 4130592 4130995 + 791082 ABBA01026757;AC009171;AMYH02031316;NG_005846 pseudo HGNC:38517 INFERRED 1351191 DBPHT1 DNA binding protein with his-thr domain 1 387125 HGNC:23361 1353877 DBPHT2 DNA binding protein with his-thr domain 2 387124 HGNC:23359 1313063 DBNDD2 dysbindin (dystrobrevin binding protein 1) domain containing 2 INVOLVED IN negative regulation of protein kinase activity; FOUND IN cytoplasm (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 5-fluorouracil; all-trans-retinoic acid 20 20 20 q13.12 40743180 40747756 + 44034633 44039250 + 45405993 45410610 + 6480464 10931946;11076863;11780052;12477932;14702039;15146197;15342556;15489334;15489336;16189514;16303743;16305340;16341674;16381901;16618118;16712791;17213182 55861 H0Y7N7;Q9BQY9 ABBA01052660;AF220191;AJ276469;AK000531;AL021578;AL591565;AMYH02037150;AW516035;AY113697;BC001105;BC012818;BG703352;BI666711;BM767886;BP308674;BP330715;BQ787725;BX335176;CB155210;CH471077;CN347771;DT216122;NM_001048221;NM_001048222;NM_001048223;NM_001048224;NM_001048225;NM_001048226;NM_001197139;NM_001197140;NM_018478 AAF67656;AAH01105;AAH12818;AAM77463;BAA91235;CAB83042;CAC39141;CAL38004;CAL38274;CAL38557;EAW75848;EAW75849;EAW75850;EAW75852;EAW75853;EAW75854;NP_001041686;NP_001041687;NP_001041688;NP_001041689;NP_001041690;NP_001041691;NP_001184068;NP_001184069;NP_060948;Q9BQY9 Hs.730643 2140419;2140421;2172654 A002A22;G19851;STS-Z40239 C20orf35;CK1BP;HSMNP1 OTTHUMP00000031114;OTTHUMP00000031115;OTTHUMP00000031116;OTTHUMP00000031117;OTTHUMP00000031118;OTTHUMP00000031119;OTTHUMP00000031120;OTTHUMP00000031121;OTTHUMP00000031122;SCF apoptosis response protein 1;casein kinase-1 binding protein;dysbindin domain-containing protein 2 protein-coding ENSG00000244274 HGNC:15881 12763 611453 VALIDATED 732725 DBN1 drebrin 1 The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 171601010 171618030 + 176883613 176900694 - 177456613 177473693 - 1580863;6480464;8554872 10585290;10604653;11076863;11230166;11256614;11578820;12009525;12477932;12665801;12676529;12761245;14506234;14702039;15084279;15302935;15345747;15489334;15489336;16094384;16169070;16300736;16344560;16381901;16780834;17081983;17620599;18338803;18806788;19725029;19738201;20183806;20473970;20876399;21044950;21080425;21124928;21139048;21182205;21497902;21900206;21906983;22266860;22268729;22275434;22310934;22505724;22703881;22939629;23000965;23084401;23166591;23201135;23398456;23569248;23926103;23979715;24255178;24457600;24816145;25027693;7608104;8125298;8216329;8838578;9473484 1627 D6R9Q9;D6R9W4;D6RCR4;D6RFI1;Q16643 ABBA01033455;ABBA01033456;AC145098;AI683844;AK094125;AK225523;AK295295;AK314645;AL110225;AMYH02012836;AW950551;BC000283;BC007281;BC007567;BC114553;BF205663;CH471195;D17530;DA245346;DR158741;NM_004395;NM_080881;U00802;XM_005265827;XM_005265828;XM_005265829;XM_006714826 AAA16256;AAH00283;AAH07281;AAH07567;BAA04480;BAG37207;BAG52819;BAH12026;CAB53683;CAL38314;EAW84989;EAW84990;EAW84991;EAW84992;EAW84993;NP_004386;NP_543157;Q16643;XP_005265884;XP_005265885;XP_005265886;XP_006714889 Hs.130316 1794652;2165622;2189329;2218762;5021700 A002E15;DBN1__4671;MARC_1067-1068:991929590:7;PMC343817P1;ksks27 D0S117E;DKFZp434D064 OTTHUMP00000161448;OTTHUMP00000161449;OTTHUMP00000165798;OTTHUMP00000223806;developmentally-regulated brain protein;drebrin;drebrin E;drebrin E2;drebrin-1 APPROVED protein-coding ENSG00000113758 HGNC:2695 00545 126660 REVIEWED 1605302 DBX1 developing brain homeobox 1 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN regulation of transcription from RNA polymerase II promoter (inferred); ventral spinal cord interneuron specification (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); choline (ortholog); folic acid (ortholog) 11 11 11 p15.1 20310390 20314496 - 20177760 20181870 - 20156214 20160324 - 6480464 11239429;21048147 120237 A6NMT0 ABBA01061034;AC068860;AMYH02024412;CH471064;NM_001029865 A6NMT0;AAI56155;AAI72465;EAW68342;NP_001025036 Hs.558604 OTTHUMP00000231784;developing brain homeobox protein 1;homeobox protein DBX1 protein-coding HGNC:33185 18721 VALIDATED 733159 DBP D site of albumin promoter (albumin D-box) binding protein The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014] 19 19 19 q13.3 45998682 46005504 - 49133817 49140639 - 48630560 48637382 - 1625350;1580863;6480464;8554872 17002564 10073576;10364202;10508692;10650888;10708517;11230793;12044990;12062854;12477932;12805554;12968673;1535333;15489334;15820770;16528748;16637263;16868893;17213182;17342072;18035050;18038108;18228528;18721734;19109932;19302999;19488670;19543766;19642159;19693801;19839995;20007432;20072116;20174623;21411511;21926972;21988832;23128233;23661758;7835883;7958972;8482542;8499951;8619474;8786133;8903733;9110174 1628 M0QXP1;M0QXW3;Q10586 AB208807;ABBA01032978;ABBA01032979;ABBA01032980;AC008888;AC022154;AK310025;AMYH02036305;BC011965;BT006836;CA425431;CH471177;D28468;DA068934;DT217864;EF015902;NM_001352;U06936;U48212;U48213;U79283;XR_243907 AAA81374;AAB18668;AAB50219;AAH11965;AAP35482;ABM64213;BAA05833;BAD92044;EAW52372;EAW52373;EAW52374;EAW52375;NP_001343;Q10586 Hs.414480;Hs.528006 1688444;2158876;5020635;5024761;5037552;5112293 D7S3207;D8S2279;RH103095;RH36905;RH47213;RH75877 DABP D site-binding protein;albumin D box-binding protein;albumin D-element-binding protein;d site albumin promoter binding protein;tax-responsive enhancer element-binding protein 302;taxREB302 APPROVED protein-coding HGNC:2697 00497 124097 REVIEWED 1606301 DBNL drebrin-like ENCODES a protein that exhibits actin binding (ortholog); actin filament binding (ortholog); INVOLVED IN neuron projection morphogenesis (ortholog); podosome assembly (ortholog); Rac protein signal transduction (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; cell cortex (ortholog); cytoplasm (ortholog); INTERACTS WITH arsenous acid; atrazine; cisplatin 7 7 7 p13 44182185 44199260 + 44084239 44101315 + 44044640 44061716 + 6480464;8554872 10087302;10567356;11595038;11689006;12477932;12565838;12690205;12913069;14557276;14702039;14729663;15144186;15489334;15498874;15592455;15637062;16055701;16094384;16189514;16964243;17081983;17207965;17306257;17353931;18829961;19056867;19060904;19336002;20618440;21044950;21139048;21145461;21890473;21906983;22450813;22863883;23000965;23824909;24816145;9858486;9891087 28988 B4DDD6;B4DDP6;B4DDU5;B4DUF9;F2Z2V3;F2Z3E3;F8WB73;F8WBB2;F8WBG8;F8WC20;F8WCK3;F8WFE1;H0Y5J4;H7C111;Q9UJU6 AB209486;ABBA01058213;AC017116;AF077353;AF151364;AF197060;AF218020;AF250287;AK027367;AK126142;AK293151;AK293279;AK293340;AK293698;AK296778;AK298102;AK300630;AK302037;AMYH02015615;BC011677;BC023589;BC031687;CH236960;CH471128;CR457167;DC404852;NM_001014436;NM_001122956;NM_001284313;NM_001284315;NM_014063 AAF13701;AAF80228;AAF81273;AAG13120;AAG17262;AAH11677;AAH31687;ADQ32376;ADZ15360;BAB55065;BAD92723;BAG56697;BAG56807;BAG56856;BAG57133;BAG59356;BAG60387;BAG62321;BAG63431;CAG33448;EAL23770;EAW61129;EAW61130;EAW61131;EAW61132;NP_001014436;NP_001116428;NP_001271242;NP_001271244;NP_054782;Q9UJU6 Hs.436500 ABP1;HIP-55;HIP55;SH3P7 HPK1-interacting protein of 55 kDa;OTTHUMP00000207761;OTTHUMP00000207763;OTTHUMP00000207764;OTTHUMP00000207765;OTTHUMP00000207768;OTTHUMP00000214095;OTTHUMP00000214096;OTTHUMP00000214097;SH3 domain-containing protein 7;cervical SH3P7;cervical mucin-associated protein;drebrin-F;drebrin-like protein;src homology 3 domain-containing protein HIP-55 protein-coding ENSG00000136279 HGNC:2696 06588 610106 VALIDATED 1605171 DBX2 developing brain homeobox 2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-) 12 12 12 q12 44211912 44248577 - 45408539 45444882 - 45014756 45051099 - 6480464;8554872 11239429;20379614 440097 Q6ZNG2 ABBA01031438;ABBA01031439;AC008127;AC079033;AC089986;AK131230;AMYH02026395;CH471111;NM_001004329 AAI48396;BAD18413;EAW57876;EAW57877;NP_001004329;Q6ZNG2 Hs.302764 2120258 G31040 FLJ16139 OTTHUMP00000241547;developing brain homeobox protein 2;homeobox protein DBX2 protein-coding ENSG00000185610 HGNC:33186 16910 VALIDATED 1323625 DBR1 debranching RNA lariats 1 The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2'-5' prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear molecules that are then degraded. This protein may also be involved in retroviral replication. [provided by RefSeq, Nov 2011] 3 3 3 q22.3 136304598 136318559 - 137879830 137893791 - 138160988 138174949 - 1580863;6480464 10737800;10982890;11886864;12477932;12766061;14702039;15489334;16232320;17081983;1850323;21139048;21145461;21906983;23455922;23824909;2435736;24672043;24816145 51163 F8WAY1;Q9UK59 ABBA01059094;AC023049;AC068777;AF180919;AK000116;AK094147;AL702928;AMYH02007766;BC009472;BF987317;BM150284;CD677175;CH471052;NM_016216 AAD53327;AAH09472;ABM86346;ABW03783;BAA90954;BAG52827;EAW79083;NP_057300;Q9UK59 Hs.477700 2110357 DBR1_9677 OTTHUMP00000216654;RNA lariat debranching enzyme;debranching enzyme homolog 1;lariat debranching enzyme APPROVED protein-coding ENSG00000138231 HGNC:15594 07384 607024 REVIEWED 1352348 DCAF10 DDB1 and CUL4 associated factor 10 INVOLVED IN protein ubiquitination (inferred); FOUND IN Cul4-RING E3 ubiquitin ligase complex; INTERACTS WITH atrazine; paracetamol; trichostatin A 9 9 9 p13.2 37733985 37800841 + 37800551 37867666 + 37800507 37867669 + 1580863;6480464 12477932;14702039;16169070;16949367;16964240;19295130;19596235;20360068;21139048;21145461;21890473;21963094;22505724;23000965;24778252 79269 Q5QP82 ABBA01050385;ABBA01050386;ABBA01050387;AK023620;AK026854;AK074532;AK309712;AK315756;AL138752;AL533994;AMYH02019502;AMYH02019503;AMYH02019504;BC003520;BC011959;BC108686;BC139834;CB045943;CD299973;CH471071;HY015327;NM_001286810;NM_024345;XM_005251577;XM_005251578 AAH03520;AAH11959;AAI08687;AAI39835;BAB15574;BAC11043;EAW58261;EAW58262;EAW58263;NP_001273739;NP_077321;Q5QP82;XP_005251634;XP_005251635 Hs.118394 1674311;1676878;1679728;1686696;1689079;1697622;2107355;2115972;2140711;2170089;2184862;5015861;5016478;5022200;5022383;5037552;7185938 D10S16;D8S2279;ECD04345;GDB:434012;L18426;MGC10765__7658;RH102323;RH18370;RH44792;RH65217;RH69970;RH91564;SGC30269;SHGC-36380;WI-10169;WI-20545 FLJ23201;MGC10765;MGC131781;WDR32 DDB1- and CUL4-associated factor 10;OTTHUMP00000021395;WD repeat domain 32;WD repeat-containing protein 32 protein-coding ENSG00000122741 HGNC:23686 08319 VALIDATED 68592 DBT dihydrolipoamide branched chain transacylase E2 The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p31 98909336 98972208 - 100652478 100715409 - 100186922 100249853 - 734877;1580863;6480464;6907045;7240710;8699517 10915611 11448970;11509994;11839747;12477932;1420314;1429740;14768949;15489334;16159877;16344560;16861235;17353931;17922217;18029348;18063578;18378174;1847055;18533943;1889817;19167051;1943690;19480318;19615732;1990841;2001734;2010537;20301313;20301495;20570198;20877624;21642987;22939629;23313820;24244333;24816145;2708389;2742576;2837277;2932110;3189339;3245861;6895847;7672509;7918575;8430702;9621512 1629 P11182;Q5VVL7 ABBA01045442;ABBA01045443;ABBA01045444;ABBA01045445;AK024946;AK303941;AK313191;AL445928;AMYH02001554;AMYH02001555;BC016675;BC030002;BT007372;CH471097;DA274670;J03208;M19301;M27093;NG_011852;NM_001918;X57676;X57677;X66785;X68104;XM_005270545;XM_005270546 AAA35589;AAA59200;AAA64512;AAH16675;AAP36036;BAG36008;BAG64869;CAA47285;CAA48225;EAW72963;NP_001909;P11182;XP_005270602;XP_005270603 Hs.709187 1663296;1680869;1689348;1703246;2133343;2136140;5016478;5020274;5020881;5020946;5022576;5022578;5022651 D11S2921;D1S1361;D1S1423;D1S3592;GDB:434012;L17709;L17971;L18441;RH39750;RH39768;SGC31939;SHGC-35260;SHGC-75206 BCATE2;BCKAD-E2;BCKADE2;E2;E2B;MGC9061 BCKAD E2 subunit;E2 component of branched chain alpha-keto acid dehydrogenase complex;OTTHUMP00000012596;branched chain acyltransferase, E2 component;branched-chain alpha-keto acid dehydrogenase complex component E2;dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex;dihydrolipoyl transacylase;dihydrolipoyllysine-residue (2-methylpropanoyl)transferase;lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial;lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex;mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b) APPROVED protein-coding ENSG00000137992 HGNC:2698 02010 248600;248610 REVIEWED 6482594 DCAF13P1 DDB1 and CUL4 associated factor 13 pseudogene 1 7 7 7 q22.3 100571321 100573883 + 105765777 105768341 + 106125331 106127895 + 9847074 100129009 ABBA01057931;AC005095;AMYH02016492;CH236947;NG_012000 1655507 RH65390 pseudo HGNC:43866 INFERRED 1322665 DCAF11 DDB1 and CUL4 associated factor 11 This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009] 14 14 14 q11.2 4448376 4458921 + 24583906 24594451 + 24114697 24125242 + 6480464;8554872 12477932;12508121;14702039;15342556;15489334;16344560;16949367;16964240;17079684;18247557;19109893;19273594;19295130;19615732;20360068;20562859;21139048;21145461;22118674;22190034;22190037;22863883 80344 B3KSW2;H0YKR8;H0YL29;H0YL64;H0YL98;H0YLB2;H0YLF1;H0YLH4;H0YLQ1;H0YLX7;H0YM56;H0YM86;H0YMF7;H0YMN6;H0YMZ4;H0YN03;H0YN15;H0YN21;H0YN92;H0YNK2;H0YNS2;H0YNT0;Q59GN6;Q8TEB1 AB209073;ABBA01061331;AF130070;AF267858;AK027223;AK057636;AK074296;AK091857;AK094478;AK292797;AK296742;AK307849;AL136295;AL833831;AMYH02028879;BC008858;BC067132;BP245093;BX161405;BX247970;BX406971;BX648224;CD644652;CH471078;DB003266;DB212727;NM_001163484;NM_025230;NM_181357;NR_028099;NR_028100 AAG35498;AAG44727;AAH08858;AAH67132;BAB15698;BAB85041;BAD92310;BAF85486;BAG51945;BAG52874;BAG59326;CAD38691;CAD61885;CAD62308;EAW66108;EAW66109;EAW66110;EAW66111;EAW66112;EAW66113;EAW66114;NP_001156956;NP_079506;NP_852002;Q8TEB1 Hs.525251 1736452;2132159;2140449 D14S711E;RH11282;RH1634 DKFZp779A1629;GL014;PRO2389;WDR23 DDB1- and CUL4-associated factor 11;OTTHUMP00000164696;OTTHUMP00000164697;OTTHUMP00000164698;WD repeat domain 23;WD repeat-containing protein 23 APPROVED protein-coding ENSG00000100897 HGNC:20258 18297 613317 REVIEWED 1603495 DCAF12L2 DDB1 and CUL4 associated factor 12-like 2 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010] X X X q25 125683150 125685748 - 125297482 125300080 - 126163499 126166097 - 6480464;8554872 12477932;16949367;21145461 340578 Q5VW00 ABBA01047430;AL445072;AMYH02040438;AY726580;BC136673;BC136674;CH471107;NG_021265;NM_001013628 AAI36674;AAI36675;EAX11842;NP_001013650;Q5VW00 Hs.181867 1671660 WI-11117 WDR40C DDB1- and CUL4-associated factor 12-like protein 2;KIAA1892-like;OTTHUMP00000023977;WD repeat domain 40B-like;WD repeat-containing protein 40C APPROVED protein-coding HGNC:32950 15323 REVIEWED 1347831 DCAF12L1 DDB1 and CUL4 associated factor 12-like 1 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008] X X X q25 126067577 126071053 - 125683366 125686842 - 126549383 126552859 - 737633;6480464;8554872 12477932 16949367 139170 Q5VU92 ABBA01047466;ABBA01047467;AI139786;AL590425;AMYH02040440;BC035674;BM563914;CH471107;DN999337;NG_012689;NM_178470 AAH35674;EAX11841;NP_848565;Q5VU92 Hs.120403 1683541 RH98936 KIAA1892L;WDR40B DDB1- and CUL4-associated factor 12-like protein 1;KIAA1892-like;OTTHUMP00000023979;WD repeat domain 40B;WD repeat-containing protein 40B APPROVED protein-coding ENSG00000198889 HGNC:29395 06604 REVIEWED 1346609 DCAF12 DDB1 and CUL4 associated factor 12 This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009] 9 9 9 p13.3 34018151 34058841 - 34086381 34126771 - 34086383 34126773 - 6480464 11572484;12477932;15761153;16341674;16949367;16964240;18096478;18957058;19295130;19322201;19343178;20360068;21139048;21145461;21906983;24250222;8619474;9110174 25853 Q5T6F0;X6RBJ8;X6RL26 AB067479;ABBA01065021;ABBA01065022;ABBA01065023;ABBA01065024;AF085907;AF131771;AI140359;AK000354;AK292935;AL117646;AL354989;AMYH02019437;AMYH02019438;AMYH02019439;BC008893;BC063823;BC127177;BG718613;BM144957;BM194397;BM747928;CH471071;DQ518909;NM_015397;XM_006716752 AAH08893;AAH63823;ABG24246;BAA91106;BAB67785;BAF85624;CAB56028;EAW58472;EAW58473;EAW58474;NP_056212;Q5T6F0;XP_006716815 Hs.493750;Hs.741270 1721359;2130572;2187127 G59679;RH45345;STS-W90655 CT102;DKFZp434O125;KIAA1892;MGC1058;TCC52;WDR40A DDB1- and CUL4-associated factor 12;OTTHUMP00000021241;WD repeat domain 40A;WD repeat-containing protein 40A;cancer/testis antigen 102;centrosome-related protein TCC52;testis cancer centrosome-related protein APPROVED protein-coding ENSG00000198876 HGNC:19911 10031 REVIEWED 6482595 DCAF13P3 DDB1 and CUL4 associated factor 13 pseudogene 3 15 15 15 q21.2 28129733 28132176 + 51236326 51238770 + 50944129 50946573 + 16344560 100132724 ABBA01039090;AC022407;AMYH02030424;DB137411;DB355622;NG_031875;NR_027642 Hs.730493 pseudo HGNC:43868 VALIDATED 6482610 DCAF13P2 DDB1 and CUL4 associated factor 13 pseudogene 2 5 5 5 p15.1 17227767 17228674 + 17202347 17203254 + 17202238 17203145 + 100288979 ABBA01020690;AC091878;AMYH02010944;NG_021876 pseudo HGNC:43867 INFERRED 1604028 DCAF13 DDB1 and CUL4 associated factor 13 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN protein ubiquitination (inferred); rRNA processing (inferred); FOUND IN Cul4-RING E3 ubiquitin ligase complex; INTERACTS WITH all-trans-retinoic acid; copper atom; copper(0) 8 8 8 q22.3 100613481 100642207 + 104426942 104455681 + 103414714 103443453 + 6480464 11042152;11790298;12477932;14702039;16949367;20601284;21139048;21890473;21900206;21906983;21963094;22505724;22586326;22797925;22990118;23000965;24457600;24654937;24816145 25879 E5RHM4;E7EVM5;Q9NV06 ABBA01037636;AC012213;AF161549;AK001693;AK001874;AK027799;AK074725;AL117609;AMYH02018543;AMYH02018544;BC026067;BC035190;BC101810;BC107790;BC112042;CA429438;CH471060;NM_015420 AAF29036;AAH26067;AAI01811;AAI12043;BAA91955;BAB55377;BAC11163;BAG50961;EAW91879;EAW91880;EAW91881;EAW91882;EAW91883;NP_056235;Q9NV06 Hs.532265 1655507;5037552;5118800 D11S3663;D8S2279;RH65390 DKFZp564O0463;GM83;HSPC064;MGC126859;MGC138247;WDSOF1 DDB1- and CUL4-associated factor 13;OTTHUMP00000227826;WD repeat and SOF domain-containing protein 1;WD repeats and SOF1 domain containing protein-coding ENSG00000164934 HGNC:24535 08528 VALIDATED 1603212 DCAF16 DDB1 and CUL4 associated factor 16 INVOLVED IN protein ubiquitination (inferred); FOUND IN Cul4-RING E3 ubiquitin ligase complex; INTERACTS WITH (S)-nicotine; cobalt dichloride; hydrogen peroxide 4 4 4 p15.31 18267259 18277362 - 17802278 17812386 - 17800655 17810763 - 6480464 12477932;14702039;16949367;19295130;20360068;21139048;21145461;21890473;21906983;22190034;22505724;22990118;23000965;23455924 54876 Q9NXF7 ABBA01032617;AC005768;AK000287;AK056116;AMYH02008827;BC014536;BC050697;BC068025;BC101716;BC101718;CH471069;NM_017741;XM_005248169;XM_005248170;XM_005248171;XM_006713966 AAH50697;AAH68025;AAI01717;AAI01719;BAA91056;BAG51629;EAW92784;NP_060211;Q9NXF7;XP_005248226;XP_005248227;XP_005248228;XP_006714029 Hs.614787 1697854;1769468;5015959;5020740;5022578;5024413;5037554;5112161;5493311 D10S2448;D1S1423;D8S2282;L17809;L17877;RH102048;RH102454;SHGC-16179;UniSTS:485673 C4orf30;FLJ20280;MGC126765;MGC126767 DDB1- and CUL4-associated factor 16;OTTHUMP00000158670 protein-coding ENSG00000163257 HGNC:25987 07891 PROVISIONAL 2306328 DCAF15 DDB1 and CUL4 associated factor 15 INVOLVED IN protein ubiquitination (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; coumestrol; zoledronic acid 19 19 19 p13.12 13956945 13965882 + 14063319 14072256 + 13952507 13961444 + 6480464;8554872 12477932;14702039;16949367;19295130;20360068 90379 K7ELE9;K7ENG0;K7ERN0;Q66K64 ABBA01029704;AC020916;AK093072;AMYH02035594;BC002926;BC013280;BC018894;BC018895;BC068994;BC080575;CH471106;NM_138353 AAH02926;AAH13280;AAH80575;BAG52648;EAW84386;NP_612362;Q66K64 Hs.443636 1696984;1699048;2165713 RH101964;RH103099;RH36280 C19orf72;MGC99481 DDB1- and CUL4-associated factor 15 protein-coding ENSG00000132017 HGNC:25095 PROVISIONAL 1606458 DCAF4L2 DDB1 and CUL4 associated factor 4-like 2 INTERACTS WITH disodium selenite; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 8 8 8 q21.3 85077604 85080929 - 88882971 88886296 - 87870743 87874068 - 6480464 12477932;14702039;15489334;23512105 138009 Q8N7W3;Q8NA75 ABBA01037378;AC005066;AK093094;AK097600;AL833507;AMYH02018375;BC035011;BC111778;CH471060;NM_152418 AAI11779;BAC04051;BAC05113;EAW91650;NP_689631;Q8NA75 Hs.371738 5493637 UniSTS:490009 FLJ35775;MGC133227;WDR21C DDB1- and CUL4-associated factor 4-like protein 2;OTTHUMP00000224790;WD repeat domain 21C;WD repeat-containing protein 21C protein-coding ENSG00000176566 HGNC:26657 08187 VALIDATED 1314746 DCAF4 DDB1 and CUL4 associated factor 4 This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009] 14 14 14 q24.3 53456192 53489495 + 73393040 73428825 + 72926332 72962103 + 6480464;8554872 12477932;14702039;15489334;16949367;16964240;17207965;19615732;20360068;21139048;21145461;21890473;21906983;21988832;22366774;22505724;23000965 26094 B2RDD6;B4DN30;D6RCB5;G3V3D6;Q86SY2;Q8WV16 ABBA01030777;AC007160;AK027745;AK297571;AK297742;AK300786;AK315499;AL080157;AL442663;AMYH02029478;AMYH02029479;BC018979;BC035901;BX161489;BX247962;CH471061;DC314513;NM_001163508;NM_001163509;NM_015604;NM_181340;NM_181341;XM_005267522;XM_005267523;XM_005267524;XM_005267525;XM_005267526;XM_006720113;XM_006720114;XM_006720115;XR_245678;XR_429310 AAH18979;AAH35901;ADQ32852;ADR82688;BAB55337;BAG37883;BAG59962;BAG60092;BAG62448;CAB45748;CAD61938;CAD62301;EAW81081;EAW81082;EAW81083;NP_001156980;NP_001156981;NP_056419;NP_851937;NP_851938;Q8WV16;XP_005267579;XP_005267580;XP_005267581;XP_005267582;XP_005267583;XP_006720176;XP_006720177;XP_006720178 Hs.331491 1653411;1658494;1670650;1674282;1721027;1762997;1775309;2124986;2138906;2148296;2163929;2165518;2181450;5021872 G35972;G38086;G38165;G38183;G38186;G38190;G38199;G38243;G38281;G38285;G59495;SHGC-146741;WI-13373;sY3084 DKFZp434K114;MGC20547;MGC46524;WDR21;WDR21A DDB1- and CUL4-associated factor 4;OTTHUMP00000218437;OTTHUMP00000218708;OTTHUMP00000218709;OTTHUMP00000218710;OTTHUMP00000245913;OTTHUMP00000245914;WD repeat domain 21A;WD repeat-containing protein 21A APPROVED protein-coding ENSG00000119599 HGNC:20229 15664 REVIEWED 1604959 DCAF4L1 DDB1 and CUL4 associated factor 4-like 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; paracetamol; trichostatin A 4 4 4 p13 42427549 42432322 + 41983713 41988484 + 41981696 41986467 + 6480464;8554872 12477932;14702039;16344560;21145461 285429 Q3SXM0 ABBA01014278;AC106052;AK122914;AMYH02009102;BC035027;BC052943;BC104224;BC104225;CH471069;DB100231;HC007382;NM_001029955 AAH35027;AAH52943;AAI04225;AAI04226;BAG53795;CBH19496;EAW92995;NP_001025126;Q3SXM0 Hs.213307 5493473 UniSTS:486626 MGC126021;MGC126022;WDR21B DDB1- and CUL4-associated factor 4-like protein 1;OTTHUMP00000218394;WD repeat domain 21B;WD repeat-containing protein 21B protein-coding ENSG00000182308 HGNC:27723 18775 VALIDATED 1315207 DCAF5 DDB1 and CUL4 associated factor 5 INVOLVED IN protein ubiquitination (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Cul4-RING E3 ubiquitin ligase complex; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 14 14 14 q23-q24.1 49581760 49684074 - 69517637 69619914 - 69050920 69153197 - 6480464;8554872 11347906;12477932;14702039;16196087;16344560;16949367;16964240;19295130;20379614;20562859;20877624;21139048;21145461;21906983;21963094;21987572;22952844;23000965;8889548;9521877;9740667 8816 G3V3S1;G3V4Z1;Q8TBB7;Q96JK2 AB058727;ABBA01023680;ABBA01023681;AF044774;AK054692;AL391262;AL831823;AL831932;AL834533;AMYH02029430;BC013239;BC022967;BC136632;BM681039;BX648006;CH471061;DA058347;DB507867;NM_001284206;NM_001284207;NM_001284208;NM_003861;R41943;XM_005268164;XM_006720297;XM_006720298;XM_006720299;XM_006720300 AAC08965;AAH22967;AAI36633;BAB47453;CAD38537;CAD38589;CAD39189;EAW80979;EAW80980;EAW80981;EAW80982;EAW80983;NP_001271135;NP_001271136;NP_001271137;NP_003852;Q96JK2;XP_005268221;XP_006720360;XP_006720361;XP_006720362;XP_006720363 Hs.509780 1339421;1649262;1678741;1682910;1718425;1731575;1856432;1857990;2116604;2123847;2123849;2145156;5125307 D10S2387;D14S1011;D14S244;D14S848;G35482;G36216;RH122414;RH79197;RH91357;RH99180;SHGC-36869;SHGC-37528;WI-14076 BCRG2;BCRP2;D14S1461E;DKFZp434A035;KIAA1824;WDR22 Breakpoint cluster region protein, uterine leiomyoma, 2;DDB1- and CUL4-associated factor 5;OTTHUMP00000246717;OTTHUMP00000246718;OTTHUMP00000246719;OTTHUMP00000246720;OTTHUMP00000246722;WD repeat domain 22;WD repeat-containing protein 22;breakpoint cluster region protein 2 protein-coding ENSG00000139990 HGNC:20224 16032 603812 VALIDATED 1604053 DCAF7 DDB1 and CUL4 associated factor 7 This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 17 17 17 q23.3 56015912 56059721 + 61627796 61671641 + 63550435 63594279 + 6480464 12477932;14593110;14676191;14702039;14743216;15324660;15489334;15761153;15778465;16196087;16344560;16712791;16759393;16887337;16949367;17979178;18029348;18247557;18391951;18729074;18775313;20360068;20940704;21139048;21145461;21282530;21777625;21832049;21890473;21906983;21963094;21987572;22053931;22118674;22505724;22645275;22792062;22990118;23275444;23443559;23455922;23524849;23602568;24255178;24457600;24550385;24778252;25027693;8889548;9192870 10238 E9PCY4;P61962 AA206721;AA634196;ABBA01035328;ABBA01035329;ABBA01035330;AC046185;AC113554;AI580937;AK022145;AK025925;AK026008;AK130672;AK294925;AK303212;AL832440;AMYH02033775;BC001264;BC024682;BC027489;BE889428;BF058090;BF507629;BG684075;BG819062;BM272287;BM559804;BM673647;BQ221019;BQ435051;BX648608;CB162675;CD245570;CH471109;DA230140;HY023965;NG_033092;NM_005828;NR_073585;U94747 AAC18913;AAH01264;ABM82159;ABM85343;BAG58007;BAG64301;EAW94305;EAW94306;NP_005819;P61962 Hs.410596 1651670;1654133;1665003;1693768;1713287;1734514;1772362;2129149;2131354;2132583;2165651;2173441;2174253;2175245;2180330;5014051;5024756;5037552;5115471 A002L25;Bdy96f01;D13S1454;D17S1455E;D8S2278;D8S2279;RH120635;RH12320;RH35855;RH48027;RH66412;RH80030;SHGC-2405;SHGC-33981;SHGC-34715;SHGC-58841;STS-M78988;WI-13939;WI-16977 AN11;HAN11;SWAN-1;WDR68 DDB1- and CUL4-associated factor 7;WD repeat domain 68;WD repeat-containing protein 68;WD repeat-containing protein An11 homolog;WD-repeat protein;human anthocyanin;seven-WD-repeat protein of the AN11 family-1 protein-coding ENSG00000136485 HGNC:30915 09340 605973 REVIEWED 1605035 DCAF17 DDB1 and CUL4 associated factor 17 This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 2 2 2 q31.1 165907349 165958150 + 172290761 172341562 + 171434217 171485052 + 6480464;7240710;8699517;8554872 12477932;14702039;16949367;17588513;19026396;19295130;20301334;20507343;20562859;21044051;21304230;21906983;21963443;21964978;23418071;23447832;24015686;24250222;8889548 80067 F5H7W1;H0Y2X0;H7C1H3;H7C244;Q5H9S7 ABBA01020725;ABBA01020726;AC007969;AK021599;AK023158;AK126198;AK307877;AMYH02005223;BC120957;BC120958;BC140843;BC144653;BM676973;CA314004;CH471058;CR933646;KF456735;KF456738;NG_013038;NM_001164821;NM_025000;NR_028482;XM_006712766;XM_006712767;XM_006712768;XM_006712769;XM_006712770;XM_006712771;XM_006712772;XM_006712773;XR_427113 AAI20958;AAI20959;AAI40844;AAY14729;BAB14436;CAI45947;EAX11212;EAX11213;NP_001158293;NP_079276;Q5H9S7;XP_006712829;XP_006712830;XP_006712831;XP_006712832;XP_006712833;XP_006712834;XP_006712835;XP_006712836 Hs.659439 1728609;1776895;5491278 G63596;MARC_7293-7294:992008316:3;RH69409 C2orf37;DKFZp781C2086;FLJ13096;FLJ44210 DDB1- and CUL4-associated factor 17;OTTHUMP00000163091 APPROVED protein-coding ENSG00000115827 HGNC:25784 08579 241080;612515 REVIEWED 1350946 DCAF6 DDB1 and CUL4 associated factor 6 ENCODES a protein that exhibits ligand-dependent nuclear receptor transcription coactivator activity; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Cul4-RING E3 ubiquitin ligase complex; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; cyclosporin A 1 1 1 q24.2 141015162 141154064 + 167905797 168045081 + 167936559 168075843 + 737633;6480464;8554872 12477932 14702039;15761153;15784617;16169070;16341674;16344560;16949367;16964240;17984071;18157088;18673574;19064610;19295130;19536175;20360068;21139048;21145461;21282530;21890473;21906983;21963094;22037555;22053931;22177699;22863883;24222117;24250222 55827 F2Z305;Q58WW2 ABBA01047235;ABBA01047236;ABBA01047237;ABBA01047238;ABBA01047239;AF116725;AF124434;AF150734;AK000984;AK093970;AK226181;AK297847;AL031287;AL033531;AL033532;AL136738;AMYH02002095;AMYH02002096;AMYH02002097;AMYH02002098;AY766164;BC025262;BM822167;BQ028917;CA310484;CH471067;DA128283;DQ768089;KF455056;NM_001017977;NM_001198956;NM_001198957;NM_018442;XM_005245331;XM_005245332;XM_005245333;Z97876 AAF67474;AAH25262;AAO15301;AAX09330;ABG76793;ABM83069;ABM86263;BAG60180;CAB66672;EAW90808;EAW90809;EAW90810;EAW90811;EAW90812;NP_001017977;NP_001185885;NP_001185886;NP_060912;Q58WW2;XP_005245388;XP_005245389;XP_005245390 Hs.435741 1342270;1672929;1690682;1692138;1737311;1759011;1789128;2126756;2136272;7186660 AL034023;D16S2649;D1S2526;D1S445;G65700;RH45687;RH45968;RH64705;SHGC-150578 1200006M05Rik;FLJ23798;IQWD1;MSTP055;NRIP;PC326;RP4-745I14.1 ARCAP;DDB1- and CUL4-associated factor 6;IQ motif and WD repeat-containing protein 1;IQ motif and WD repeats 1;OTTHUMP00000032522;OTTHUMP00000032524;OTTHUMP00000082621;androgen receptor complex-associated protein;nuclear receptor interaction protein protein-coding ENSG00000143164 HGNC:30002 17156 610494 VALIDATED 1346743 DCAF8L1 DDB1 and CUL4 associated factor 8-like 1 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate the formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 1. However, the CDS of this intronless gene remains intact, it is conserved in other primate species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010] X X X p21.3 32124378 32127834 - 27996110 27999566 - 27977993 27981449 - 6480464;8554872 16949367;20932654 139425 A6NGE4 ABBA01072694;ABBA01072695;AC004553;AK128123;AMYH02039077;CH471074;NG_021357;NM_001017930 A6NGE4;BAG54633;EAW99044;EAW99045;NP_001017930 Hs.447365 5094884 WDR42A FLJ46244;WDR42B DDB1- and CUL4-associated factor 8-like protein 1;OTTHUMP00000023096;WD repeat domain 42B;WD repeat-containing protein 42B APPROVED protein-coding ENSG00000226372 HGNC:31810 18551 REVIEWED 1349472 DCAF8 DDB1 and CUL4 associated factor 8 This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009] 1 1 1 q22-q23 133254265 133301114 - 160185505 160232350 - 160215715 160262560 - 737633;6480464;8699517;7240710;8554872 12477932 11401431;14702039;15342556;16189514;16344560;16949367;16964240;19060904;19295130;20360068;21139048;21145461;21424732;21890473;21906983;21963094;21987572;22190034;22500989;22797925;22863883;23443559;23455924;24250222;24500646;24654937;8125298 50717 B7Z8C9;G3V3G9;Q5TAQ5;Q5TAQ6;Q5TAQ7;Q5TAQ8;Q5TAQ9;V9GY54;V9GY98;V9GYQ9;V9GYZ9;V9GZ39 ABBA01016613;AI352273;AK022091;AK026213;AK026481;AK093176;AK223475;AK303188;AK312690;AL139011;AMYH02002023;AMYH02002024;BC013107;BC080597;BC098245;BC098271;BC099709;BC099846;BC111063;BP359560;BU629460;CH471121;CR749801;DA622120;DC296401;NG_034154;NM_015726;NR_028103;NR_028104;NR_028105;NR_028106;U06631 AAA16607;AAH13107;AAH80597;AAH98271;AAH99709;AAH99846;AAI11064;BAD97195;BAH13915;CAH18661;EAW52730;EAW52731;EAW52732;NP_056541;Q5TAQ9 Hs.632447 1651568;1692492;1725383;1755823;1854198;2124971;2135963;2160893;5094884 AL033897;D1S2401;RH119009;RH69736;RH70540;SHGC-142667;WDR42A;WI-13746;WI-13987 DKFZp781G1096;FLJ35857;GAN2;H326;MGC117276;MGC118891;MGC99640;WDR42A DDB1- and CUL4-associated factor 8;OTTHUMP00000029883;OTTHUMP00000029884;OTTHUMP00000029885;OTTHUMP00000246882;WD repeat domain 42A;WD repeat-containing protein 42A APPROVED protein-coding ENSG00000132716 HGNC:24891 18300 610100;615820 REVIEWED 1605576 DCANP1 dendritic cell-associated nuclear protein This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 130903693 130906827 - 134779904 134783038 - 135444214 135447348 - 6480464 10737800;11181995;11798177;12477932;15489334;16189510;17207965;17460725;20351714;20693543;23619526 140947 Q8TF63 AB074498;ABBA01068727;AC022092;AMYH02012255;BC069608;BC069610;BC074831;BC074832;BC117156;BC117158;CH471062;NM_130848 AAH69608;AAH69610;AAH74831;AAH74832;ADQ32916;BAB84585;EAW62216;NP_570900;Q8TF63 Hs.152477 1677780;5492697;5493393;5494041 RH93048;UniSTS:480796;UniSTS:482053;UniSTS:485969 C5orf20;DCNP1 OTTHUMP00000223506;dendritic cell nuclear protein 1 APPROVED protein-coding ENSG00000251380 HGNC:24459 16786 609710 REVIEWED 1342776 DCAF8L2 DDB1 and CUL4 associated factor 8-like 2 INTERACTS WITH nickel atom; trichostatin A; 17alpha-ethynylestradiol (ortholog) X X X p21.3 31893400 31895412 + 27734205 27768050 + 27746809 27748821 + 6480464 12477932;21139048 347442 J3QRI4;P0C7V8 ABBA01072668;ABBA01072669;AC107613;AMYH02039076;BC157859;NM_001136533 AAI57860;NP_001130005;P0C7V8 Hs.720885 1697192 RH102087 WDR42C DDB1- and CUL4-associated factor 8-like protein 2;WD repeat domain 42C;WD repeat-containing protein 42C protein-coding ENSG00000189186 HGNC:31811 PROVISIONAL 1602678 DCAKD dephospho-CoA kinase domain containing ENCODES a protein that exhibits ATP binding (inferred); dephospho-CoA kinase activity (inferred); INVOLVED IN coenzyme A biosynthetic process (inferred); phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsane; arsenic atom 17 17 17 q21.31 39810010 39847596 - 43100706 43138473 - 45023338 45061130 - 6480464;8554872 12477932;16196087;17567985;19322201;19946888;20379614;20877624;21139048;21890473;21906983;21963094;22053931;22505724;23000965;24816145 79877 K7ESP4;Q8WVC6 ABBA01028331;ABBA01028332;ABBA01028333;ABBA01028334;ABBA01028335;AC015936;AC116493;AI497945;AK026608;AK290755;AMYH02033508;AMYH02033509;AX118925;BC006472;BC006546;BC018132;BC033299;BF115235;BM910634;BP872609;BX487139;CH471178;DR005747;NM_001128631;NM_001288654;NM_001288655;NM_024819;XM_005257688;XM_006722091;XM_006722092;XM_006722093 AAH06472;AAH06546;AAH18132;AAH33299;ADZ15839;BAB15508;BAF83444;CAC38536;EAW51558;EAW51559;EAW51560;EAW51561;EAW51562;NP_001122103;NP_001275583;NP_001275584;NP_079095;Q8WVC6;XP_005257745;XP_006722154;XP_006722155;XP_006722156 Hs.463148 1767399;2133335;2141936;2144691;5114939 AFMa123xd1;D17S686;L29684;RH69257;STS-W87582 FLJ22955 dephospho-CoA kinase domain-containing protein protein-coding ENSG00000172992 HGNC:26238 08012 VALIDATED 1351849 DCDC1 doublecortin domain containing 1 This gene encodes a member of the doublecortin family. The protein encoded by this gene is a hydrophilic, intracellular protein. It contains a single doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. This gene is mainly expressed in adult testis. It does not have a mouse homolog. [provided by RefSeq, Sep 2010] 11 11 11 p13 31431602 31538744 - 31284171 31391357 - 31262624 31369810 - 1580863;8554872 12820024;16344560;16869982;19801982;20236041;21321669 341019 B6ZDN3;B7WNX6;H0Y2Q8;H7C298;M0R2J8;P59894 AA846321;AA954541;ABBA01060929;ABBA01060930;ABBA01060931;AL137804;AL162614;AMYH02024538;AMYH02024539;AMYH02024540;AMYH02024541;AMYH02024542;AMYH02024543;AY247970;BX097338;CH471064;DB090201;NM_181807 AAI60093;AAP75563;EAW68248;NP_861523;P59894 Hs.127405;Hs.592000 1336412;1339122;1664032;1670630;2184759;5494086;7186453 AU046597;D11S2001;D11S2369;D11S914;SHGC-32530;STS-AA017167 FLJ44078 OTTHUMP00000196427;OTTHUMP00000196428;doublecortin domain-containing protein 1 APPROVED protein-coding ENSG00000170959 HGNC:20625 12158 608062 REVIEWED 1604739 DCDC2B doublecortin domain containing 2B This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. [provided by RefSeq, Sep 2010] 1 1 1 p35.1 30944597 30951699 + 32674695 32681797 + 32209094 32216196 + 6480464;8554872 12477932;16869982;20236041;8889548 149069 A2VCK2 ABBA01023436;ABBA01023437;AL049795;AMYH02000705;AMYH02000706;BC041458;BC128073;BM980133;NM_001099434 A2VCK2;AAI28074;NP_001092904 Hs.424588 1680539;2161383 RH98271;SHGC-74503 OTTHUMP00000202572;doublecortin domain-containing protein 2B APPROVED protein-coding ENSG00000222046 HGNC:32576 REVIEWED 1349389 DCD dermcidin This antimicrobial gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] 12 12 12 q13.1 54690262 54694036 - 55038375 55042277 - 54644591 54648493 - 1580863;6480464 10833321;11694882;12429208;12477932;12953101;15174051;15340161;15342556;15355918;15489334;15670776;15944307;16142329;16196087;16354654;16685272;17207965;17353931;17373842;17448443;17620599;17626247;18058718;18372903;18403914;18594538;18599487;18714373;18781797;19020323;19056867;19380743;19394292;19471022;19670153;19703016;19720844;19833888;20020773;20510021;20571754;20809104;20837461;20889853;21139048;21145461;21319273;21397687;21565611;21642987;21988832;22262861;22588119;22797925;23398456;23426625;23455922;23824909;8602222;9139670;9736629 117159 P81605 ABBA01008377;AC079310;AF144011;AF418981;AMYH02026537;AY044239;AY590150;BC062682;BC069108;BP313072;CH471054;EF503687;EF503688;EF503689;NM_001300854;NM_053283;XM_005268627 AAH62682;AAH69108;AAK94785;AAL18349;AAL25801;AAS99907;ABQ53649;ABQ53650;ABQ53651;ADQ32090;EAW96794;NP_001287783;NP_444513;P81605;XP_005268684 Hs.350570 AIDD;DCD-1;DSEP;HCAP;MGC71930;PIF OTTHUMP00000242495;OTTHUMP00000242497;diffusible survival/evasion peptide;preproteolysin;proteolysis inducing factor;survival promoting peptide APPROVED protein-coding ENSG00000161634 HGNC:14669 07363 606634 REVIEWED 731288 DCC DCC netrin 1 receptor This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009] 18 18 18 q21.3 46722385 47918339 + 49866542 51062273 + 52340172 53535903 + 734879;734878;1580863;2314372;2314373;2314374;6480464;6907045;7240710;8699517;8554872 16337279;16998900;17574219;8187090;8188295 10719364;11048721;11248093;11518545;11527412;11817894;11986622;12011067;12060632;12149262;12432238;12477932;12509857;12787729;12810718;12864730;12901278;12901294;14571268;14631365;15174051;15491747;15494732;15494733;15494734;15523694;15573119;15574733;15646429;15722793;15811950;16122883;16244667;16537496;16715837;16762451;16971669;17018594;17553164;17975119;18054557;18302152;18585357;18616430;18628988;18922894;19023099;19224863;19240061;19242752;19329758;19543899;19616629;19690890;19826074;1991322;20054719;20083228;20150623;20200978;20379614;20431009;20434207;20602751;20609112;20677014;20800603;21085126;21242494;21529783;21642953;22318345;22418395;22588384;22829558;2294591;22990118;23192594;23251661;23310950;23353777;23637120;23765761;24009623;24400119;24808016;25015289;7587124;7674088;7926722;8044801;8109990;8834768;8861902;9334332;9796814;9858595;9950216 1630 E7EQM8;H0Y2Q5;J3QKL2;J3QLB0;J3QLT8;J3QQJ6;J3QRL3;J3QRM6;J3QS93;P43146;Q49AK4 ABBA01018697;ABBA01018698;ABBA01018699;ABBA01018700;ABBA01018701;ABBA01018702;ABBA01018703;ABBA01018704;ABBA01018705;ABBA01018706;ABBA01018707;ABBA01018708;AC011155;AC016383;AC019239;AC021486;AC027248;AC078999;AC090660;AC100777;AC103949;AC110591;AC116002;AK302643;AK310385;AMYH02034729;AMYH02034730;AMYH02034731;AMYH02034732;AMYH02034733;AMYH02034734;AMYH02034735;AMYH02034736;AMYH02034737;AMYH02034738;AMYH02034739;AMYH02034740;AMYH02034741;AMYH02034742;AMYH02034743;AMYH02034744;AMYH02034745;AMYH02034746;AW949550;BC036524;CH471096;KF456415;M32286;M32288;M32290;M32292;M63696;M63698;M63700;M63702;M63718;NG_013341;NM_005215;S73204;X76132;XM_005258204 AAA35751;AAA52174;AAA52175;AAA52176;AAA52177;AAA52178;AAA52179;AAA52180;AAA52181;AAB31484;AAH36524;AAI52809;BAG63884;CAA53735;EAW62991;EAW62992;EAW62993;EAW62994;NP_005206;P43146;XP_005258261 Hs.162025 1331553;1334999;1336976;1338167;1341443;1655089;1663787;1687552;1708750;1710056;1713015;1714433;1716313;1719031;1719849;1727903;1729722;1730537;1730753;1742707;1742709;1742711;1742713;1742715;1742717;1742719;1742721;1742723;1742725;1742727;1742729;1742731;1742733;1742735;1742737;1742739;1742741;1742743;1742745;1742747;1742749;1742751;1742753;1742755;1742757;1742759;1742761;1742763;1749789;1754503;1755081;1760461;1761363;1776131;1783668;1787552;2107013;2115038;2122966;2146645;2173662;5019897;7187412;7189149 AFM318xd5;D18S101;D18S1048;D18S1056;D18S1156;D18S1289;D18S484;D18S539;D18S8;D18S846;D18S851;D18S867;D18S90;DCC_7283;G19290;G54638;G63369;GDB:201888;GDB:201890;GDB:201891;GDB:201893;GDB:201894;GDB:201895;GDB:201896;GDB:201897;GDB:201898;GDB:201899;GDB:201900;GDB:201901;GDB:201902;GDB:201903;GDB:201904;GDB:201905;GDB:201906;GDB:201907;GDB:201909;GDB:201910;GDB:201912;GDB:201913;GDB:201914;GDB:201915;GDB:201916;GDB:201917;GDB:201918;GDB:201919;GDB:201920;RH120209;RH120598;RH121186;RH123222;RH123619;RH91830;SHGC-111533;SHGC-132778;SHGC-142014;SHGC-143101;SHGC-144200;SHGC-145384;SHGC-155675;SHGC-81593;SHGC-82304;WI-16306 CRC18;CRCR1;IGDCC1;MRMV1;NTN1R1 OTTHUMP00000163551;colorectal cancer suppressor;colorectal tumor suppressor;deleted in colorectal cancer protein;deleted in colorectal carcinoma;immunoglobulin superfamily DCC subclass member 1;immunoglobulin superfamily, DCC subclass, member 1;netrin receptor DCC;tumor suppressor protein DCC APPROVED protein-coding ENSG00000187323 HGNC:2701 00391 114500;120470;157600 REVIEWED 1346250 DCBLD2 discoidin, CUB and LCCL domain containing 2 INVOLVED IN negative regulation of cell growth; wound healing; FOUND IN cell surface; integral component of plasma membrane; INTERACTS WITH 5-aza-2'-deoxycytidine; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 3 3 3 q12.1 96906479 97012297 - 98514814 98620566 - 98795970 98901689 - 632753;737633;6480464 11447234;12477932 10673047;11973641;14702039;15489334;15951569;17213806;17570516;17697260;18314483;19322201;19696027;20379614;21139048;21183991;21890473;21906983;22261696;22468095;23000965;23036739;23770091;24177422;25061874 131566 C9JIW6;Q96PD2 AB073146;ABBA01061811;ABBA01061812;ABBA01061813;ABBA01061814;AC026303;AC106728;AF104313;AF387547;AK001362;AK056350;AK302649;AMYH02007290;AMYH02007291;BC007117;BC016815;BC029658;BX647140;CH471052;D29810;NM_080927 AAH07117;AAH29658;AAL30178;ABM85923;BAA18909;BAB91138;BAH13769;EAW79845;EAW79846;EAW79847;NP_563615;Q96PD2 Hs.203691 1653662;1659405;1675519;1686194;1687409;1768959;1793538;1847449;2151608;2158708;2168143;5015881;5090953 D3S3963;GDB:335751;PMC229255P3;RH47632;RH66607;RH78772;RH80269;RH91597;RH98345;SHGC-36679;SHGC-37287;STS-D29024;STS-N69212 CLCP1;ESDN 1700055P21Rik;CUB, LCCL and coagulation factor V/VIII-homology domains protein 1;OTTHUMP00000200890;OTTHUMP00000200891;coagulation factor V/VIII-homology domains protein 1;discoidin, CUB and LCCL domain-containing protein 2;endothelial and smooth muscle cell-derived neuropilin-like protein protein-coding ENSG00000057019 HGNC:24627 10567 608698 VALIDATED 1353460 DCBLD1 discoidin, CUB and LCCL domain containing 1 INVOLVED IN cell adhesion (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 6 6 6 q22.1 118546716 118633918 + 117803803 117891021 + 117482640 117569858 + 6480464 12477932;14574404;14702039;15489334;17170699;18976975;20379614;21139048;21906983;22566634;23143601;23266556;23478653;23563607 285761 H0Y4G4;Q8N8Z6 ABBA01026038;ABBA01026039;AJ420528;AJ420597;AK055462;AK095973;AK098194;AL132671;AMYH02014360;BC035671;CH471051;CR749448;KF458259;NM_173674;XM_005266941;XM_006715463;XR_427969;XR_427970;Z85999 AAH35671;BAC04663;BAC05258;CAH18285;EAW48206;EAW48207;NP_775945;Q8N8Z6;XP_005266998;XP_006715526 Hs.658304 1650085;1653442;1721401;1776219;1849051;1849053;2115875;2124467;2129782;2186357;5037552 A005S47;AL024477;D6S1073;D8S2279;G20471;G59552;HSC1FH112;RH46698;RH47666;RH78348;STS-D59313 DKFZp686L21135;MGC46341;dJ94G16.1 OTTHUMP00000017083;OTTHUMP00000017084;discoidin, CUB and LCCL domain-containing protein 1 protein-coding ENSG00000164465 HGNC:21479 16784 PROVISIONAL 1349063 DCHS1 dachsous cadherin-related 1 This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6761623 6801774 - 6642556 6685320 - 6621324 6664089 - 1580863;6480464;7240710;8554872 11597768;14702039;20379614;21139048;21875946;24056717;9199196 8642 Q96JQ0;Q9HAD6 AB000895;AB053446;ABBA01028670;AC091564;AI767189;AK021852;AL831828;AMYH02024271;BC038382;CH471064;KF455320;NG_033858;NM_003737;XM_005253207 BAA21133;BAB13913;BAB61903;CAD38541;EAW68683;NP_003728;Q96JQ0;XP_005253264 Hs.199850 1683695;1782298;1797952 PCDH16_1801;RH94204;SHGC-141500 CDH19;CDH25;CDHR6;FIB1;FLJ11790;KIAA1773;PCDH16;VMLDS1 OTTHUMP00000164585;cadherin-19;cadherin-25;cadherin-related family member 6;dachsous 1;fibroblast cadherin 1;fibroblast cadherin FIB1;fibroblast cadherin-1;protein dachsous homolog 1;protocadherin 16;protocadherin-16 APPROVED protein-coding ENSG00000166341 HGNC:13681 04341 601390;603057 REVIEWED 4144303 DCDC2C doublecortin domain containing 2C INVOLVED IN intracellular signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH pirinixic acid (ortholog) 2 2 2 p25.3 3759394 3835241 + 3751188 3895001 + 3703592 3847411 + 6480464;8554872 11329013;15815621;16869982;20236041;21490949;23251661 728597 A8MYV0;H7C242 ABBA01006098;ABBA01006099;ABBA01006100;AC010907;AC019172;AMYH02003201;AMYH02003202;BG202560;DW010024;DY654549;HY010234;HY194445;NM_001287444;XM_006711894;XM_006711895;XR_426960 A8MYV0;NP_001274373;XP_006711957;XP_006711958 Hs.304233;Hs.631689 1678415;1706504 RH98402;SHGC-81147 OTTHUMP00000200096;doublecortin domain containing 2C pseudogene;doublecortin domain-containing protein 2C;doublecortin domain-containing protein ENSP00000382097-like;putative doublecortin domain-containing protein ENSP00000382097 protein-coding ENSG00000214866 HGNC:32696 VALIDATED 1352461 DCE desmosterol-to-cholesterol enzyme 1631 HGNC:2702 1603301 DCHS2 dachsous cadherin-related 2 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN homophilic cell adhesion via plasma membrane adhesion molecules (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (+)-catechin; pinosylvin; trans-pinosylvin 4 4 4 q31.3 152487107 152744394 - 155155527 155412930 - 154234375 154491778 - 6480464;8554872 12477932;14702039;15003449;16344560;20639394;21145461;21757653;22005931;22610502;22960237;23251661;8125298 54798 E9PG03;Q6V1P8;Q6V1P9 ABBA01070154;ABBA01070155;ABBA01070156;AC079298;AC110608;AC110775;AF169691;AK000054;AK095103;AK127704;AK225200;AMYH02010330;AMYH02010331;AMYH02010332;AY354497;AY354498;BC140919;BX647835;CH471056;DA240588;DB288709;NM_001142552;NM_001142553;NM_017639 AAF89688;AAI40920;AAR10443;AAR10444;AAY41019;BAA90911;BAC87093;BAG52985;EAX04942;EAX04943;EAX04944;EAX04945;EAX04946;EAX04947;NP_001136024;NP_001136025;NP_060109;Q6V1P9 Hs.655664 1655294;1655296;1665919;1716087;1763611;1770465;1770894;1770896;2119690;2123055;2130435;2146659;2166202;2169793;2172540;2173676;2219776 A005N30;CDHJ_4540;D4S1046;D4S1303;D4S2555E;D4S904;D4S991;G20355;G34254;G41953;G41955;G41974;RH121008;SHGC-14453;SHGC-147301;SHGC-50784;SHGC-59326 CDH27;CDHJ;CDHR7;FLJ20047;PCDH23;PCDHJ OTTHUMP00000220364;OTTHUMP00000220365;OTTHUMP00000220366;cadherin-27;cadherin-like 27;cadherin-like protein CDHJ;cadherin-like protein VR8;cadherin-related family member 7;dachsous 2;dachsous-like;protein dachsous homolog 2;protocadherin 23;protocadherin PCDHJ;protocadherin protein CDHJ;protocadherin protein PCDHJ;protocadherin-23 APPROVED protein-coding ENSG00000197410 HGNC:23111 10858 612486 VALIDATED 1603545 DCDC5 doublecortin domain containing 5 This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Alternatively spliced transcript variants encoding distinct isoforms have been found, but the full-length nature of some variants is not determined. [provided by RefSeq, Feb 2011] 11 11 11 p14.1 31032842 31101224 - 30885150 31014233 - 30863603 30992686 - 10819331;11181995;12477932;14702039;16554811;16869982;19801982;20236041;20379614;20700443;22159412;22504420;22797727 100506627 Q6ZRR9 AB040926;ABBA01060932;ABBA01060933;ABBA01060934;AL133349;AL133376;AL135932;AL137160;AMYH02024533;AMYH02024534;AMYH02024535;AMYH02024536;AMYH02024537;AW340116;BX116244;BX117620;BX647348;CH471064;CV569749;CV574283;DB528022;NM_020869 AAI56060;AAI56943;BAA96017;EAW68252;EAW68253;NP_065920;Q6ZRR9 Hs.530438;Hs.729691;Hs.730375 1646415;1693664;5015861;5015959;5037552;5037554;7185938 D10S16;D10S2448;D8S2279;D8S2282;SGC33110;SHGC-58593 DKFZp779D068;FLJ44078;FLJ46154;KIAA1493;MGC190499;MGC190811 OTTHUMP00000196430;doublecortin domain-containing protein 5 APPROVED protein-coding ENSG00000170959 HGNC:24799 612321 VALIDATED 1352758 DCLK3 doublecortin-like kinase 3 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH silicon dioxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 3 3 3 p22.2 36696656 36724088 - 36753913 36781352 - 36712422 36739861 - 1580863;6480464;8554872 11181995;11214970;14702039;16344560;16684769;16869982;17914117;20236041;20379614;23602568 85443 B3KVM3;Q9C098 AB051552;ABBA01024869;AC105749;AK122988;AMYH02006549;CH471055;DB075681;DR000236;NM_033403 BAB21856;BAG53835;EAW64476;NP_208382;Q9C098 Hs.631907 2157815;2171848;2182507;2185625 A008Q15;DXYS5Y;SHGC-32285;STS-F04958 CLR;DCAMKL3;DCDC3C;DCK3;KIAA1765 CLICK-I,II-related;OTTHUMP00000208673;doublecortin and CaM kinase-like 3;doublecortin domain-containing protein 3C;doublecortin-like and CAM kinase-like 3;serine/threonine-protein kinase DCLK3 protein-coding ENSG00000163673 HGNC:19005 613167 VALIDATED 1344747 DCK deoxycytidine kinase Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs. Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents. Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives. DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq, Jul 2008] 4 4 4 q13.3-q21.1 69216290 69253648 + 71859265 71896631 + 70993548 71030914 + 1580863;6480464;6907045;8699517 11687801;11830489;11952160;12477932;12535661;12628850;12808445;14514691;15028279;15561147;15564883;15571255;15571257;15571258;15571259;15978330;16169070;16361699;16401075;16799820;16969512;17065053;17065079;17065080;17065085;17065091;17602053;17855478;18258203;18361501;18600530;18600545;18775979;18931345;18974616;19159229;19287976;19322201;19428333;19568409;1996353;20028759;20043109;2013338;20137114;20544527;20544528;20608756;20614893;20637175;20665488;20890066;21030078;21139048;21225236;21245102;21336182;21351740;21832002;21858090;21900206;21906983;21988832;22490663;22505724;22705007;22863883;22884143;23000965;23035362;23230131;24294360;24462681;25015289;2542307;6315069;6317685;7494863;7718326;8406512;8421671;9342341;9804782 1633 D6R9C6;D6RCP9;D6RFG8;D6RG38;F5CTF3;P27707 ABBA01022955;ABBA01022956;ABBA01022957;ABBA01022958;AC093851;AK303292;AK313523;AMYH02009434;AMYH02009435;BC103764;BC114617;BI601939;BT019941;BT019942;CD014016;CH471057;CR536527;CR541876;JA361664;JA455051;JF806429;L07485;M60527;NG_023303;NM_000788 AAA35752;AAI03765;AAI14618;AAV38744;AAV38745;AED02503;BAG36303;BAG64367;CAG38764;CAG46674;CCA94561;CCD32997;EAX05637;NP_000779;P27707 Hs.709 2158335;2174752;5117104 D4S834;GDB:437189;SHGC-59555 MGC117410;MGC138632 OTTHUMP00000160356;OTTHUMP00000219118;OTTHUMP00000219119;deoxynucleoside kinase APPROVED protein-coding ENSG00000156136 HGNC:2704 00507 125450 REVIEWED 1348460 DCLK2 doublecortin-like kinase 2 This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. Mouse studies show that the DCX gene, another family member, and this gene share function in the establishment of hippocampal organization and that their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Sep 2010] 4 4 4 q31.3 148317796 148498175 + 150999426 151178609 + 150078274 150257457 + 737633;6480464;8554872 12477932 15489334;15611072;16344560;16869982;18075264;18618084;19342486;20236041;21988832;22589738;22939624;24133439 166614 G5E9L9;Q8N568 AB209181;ABBA01070083;ABBA01070084;ABBA01070085;ABBA01070086;ABBA01070087;AC093748;AC105343;AC108934;AC118064;AI419589;AL834498;AMYH02010289;AMYH02010290;AMYH02010291;AMYH02010292;BC019831;BC032726;CH471056;DA122884;DA201927;NM_001040260;NM_001040261;NR_036614;XM_005262785;XM_005262786;XR_244621 AAI72430;AAY40983;ABM81818;ABM84270;ABM87664;BAD92418;CAD39156;EAX05001;EAX05002;EAX05003;NP_001035350;NP_001035351;Q8N568;XP_005262842;XP_005262843 Hs.591683 1705978;1739319;1775981;2119622;2162116 D4S2763E;D4S921;RH47330;SHGC-79669;STS-N40200 CL2;CLICK-II;CLICK2;CLIK2;DCAMKL2;DCDC3;DCDC3B;DCK2;DKFZp761I032;MGC45428 OTTHUMP00000220237;OTTHUMP00000220238;OTTHUMP00000220239;OTTHUMP00000220240;caMK-like CREB regulatory kinase 2;doublecortin and CaM kinase-like 2;doublecortin domain-containing protein 3B;doublecortin-like and CAM kinase-like 2;serine/threonine-protein kinase DCLK2 APPROVED protein-coding ENSG00000170390 HGNC:19002 13122 613166 REVIEWED 1321007 DCDC2 doublecortin domain containing 2 This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013] 6 6 6 p22.1 25405284 25591655 - 24171983 24383520 - 24171755 24383292 - 1580863;6480464;8554872 10574461;10601354;12168954;12477932;14574404;15489334;16278297;16385449;16869982;17033633;17450541;18810304;19018237;19096528;19238550;19302769;19362708;19588467;19616627;19944766;20068590;20236041;20691427;20846247;21042874;21046216;21104116;21130836;21203818;21457949;21507613;21698230;21832049;21881542;22490485;22558177;22683091;22733135;22750057;22837378;23229871;23677054;23746548 51473 H0Y784;Q9UHG0 AB032980;ABBA01066532;ABBA01066533;AF181720;AF181721;AI858903;AK027036;AL133043;AL359389;AL359713;AMYH02013319;AMYH02013320;AMYH02013321;AMYH02013322;AMYH02013323;AMYH02013324;AMYH02013325;BC050704;BF109922;BM923267;FO393410;NG_012829;NM_001195610;NM_016356 AAF23610;AAF23612;AAH50704;BAA86468;CAB61371;NP_001182539;NP_057440;Q9UHG0 Hs.61345 1336116;1657140;1723043;1752727;1788830;1792856;2113520;2120478;2180328;5014051;5021872;5022578;5022651;5037552;7185396;7188001 D1007L;D11S2921;D1S1423;D6S276;D8S2278;D8S2279;G60472;G67618;PMC166143P13;SHGC-106573;STS-AA004717;STS-AA026398;WI-11494;sY3084 DCDC2A;RU2;RU2S OTTHUMP00000017887;doublecortin domain-containing protein 2 APPROVED protein-coding ENSG00000146038 HGNC:18141 09308 605755 REVIEWED 7204445 DCLRE1CP1 DNA cross-link repair 1C pseudogene 1 10 p13 15057357 15077424 - 100289151 XM_002342972;XM_003119462;XM_003960465 XP_002343013;XP_003119510;XP_003960514 Hs.723069 protein-coding HGNC:44877 1348381 DCP1B decapping mRNA 1B DCP1B is a core component of the mRNA decapping complex, a key factor in the regulation of mRNA decay (Lykke-Andersen, 2002 [PubMed 12417715]).[supplied by OMIM, Mar 2008] 12 12 12 p13.33 3662917 3721370 - 2055214 2113677 - 1946048 2004545 - 1580863;6480464;8554872 12417715;12477932;14702039;15067023;15231747;15231748;15489334;15592455;16364915;16964243;18029348;19615732;19946888;21139048;21672539;21906983;21948796;22142827;22505724;23000965;23251661;23453885;24778252;24816145;25036637 196513 B4DVJ6;F5GZK9;F5H4R4;Q8IZD4 ABBA01048813;AC005342;AK056200;AK299203;AK301109;AK310475;AMYH02025879;AW204088;AY146652;BC015368;BC043437;CH471116;NM_152640;XM_006718971;XM_006718972 AAH15368;AAH43437;AAN62764;BAB71118;BAG61243;BAG62708;EAW88915;EAW88916;NP_689853;Q8IZD4;XP_006719034;XP_006719035 Hs.130934 1693862;1693948;1745915;2146671 G42620;G42668;G64296;RH66111 DCP1;hDcp1b DCP1 decapping enzyme homolog B;OTTHUMP00000237966;decapping enzyme hDcp1b;mRNA-decapping enzyme 1B APPROVED protein-coding ENSG00000151065 HGNC:24451 609843 VALIDATED 1350050 DCP1A decapping mRNA 1A Decapping is a key step in general and regulated mRNA decay. The protein encoded by this gene is a decapping enzyme. This protein and another decapping enzyme form a decapping complex, which interacts with the nonsense-mediated decay factor hUpf1 and may be recruited to mRNAs containing premature termination codons. This protein also participates in the TGF-beta signaling pathway. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014] 3 3 3 p21.1 53284637 53348841 - 53317443 53381654 - 53283423 53347627 - 1580863;6480464;8554872 11836524;12023040;12417715;12477932;12515382;12766061;12927788;14702039;15146197;15231747;15231748;15302935;15324660;15489334;15604093;15937477;16344560;16364915;17081983;18029348;18423202;18513389;19150429;19615732;19812249;19910486;19946888;21139048;21859862;21948796;22053931;22990118;23085078;23131811;23300942;23583979;23926332;24510189;24722188;24778252;24816145;25036637 55802 B4DHN9;Q3LIB4;Q9NPI6;U3KQM8 AA129009;AB075507;ABBA01024475;ABBA01024476;ABBA01024477;ABBA01024478;AC097015;AC112218;AJ275986;AK001969;AK025344;AK094470;AK295205;AMYH02006826;AMYH02006827;AMYH02006828;AY146651;BC007439;BC016729;BI769171;BM016520;BP284272;BX481349;CA407150;CD676826;CH471055;CN289842;DA568874;DA786683;DC371232;NM_001290204;NM_001290205;NM_001290206;NM_001290207;NM_018403;XM_005265320;XM_005278359;XM_005278360 AAH07439;AAN62763;ABM84186;ABM87588;BAA92008;BAE45754;BAG58201;CAB77023;EAW65283;EAW65284;NP_001277133;NP_001277134;NP_001277135;NP_001277136;NP_060873;Q9NPI6;XP_005265377;XP_005278416;XP_005278417 Hs.476353 1652400;1661061;1685508;1687165;1780060;1852780;2179885;5024761;5037552 D8S2279;RH36905;RH69821;RH78393;RH91253;SGC34070;SHGC-154309;STS-N91450;STS-R01176 FLJ21691;HSA275986;Nbla00360;SMAD4IP1;SMIF DCP1 decapping enzyme homolog A;OTTHUMP00000212673;OTTHUMP00000212674;OTTHUMP00000212675;Smad4-interacting transcriptional co-activator;decapping enzyme hDcp1a;mRNA-decapping enzyme 1A;putative protein product of Nbla00360;transcription factor SMIF APPROVED protein-coding ENSG00000272886 HGNC:18714 06113 607010 REVIEWED 1348428 DCLRE1C DNA cross-link repair 1C This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 10 10 10 p13 14876909 14924986 - 14948870 14996106 - 14904611 14954432 - 1580863;1601049;6480464;6907045;7240710;8662352;8554872;8699517 11336668;20192759 11181991;11955432;12055248;12177301;12406895;12477932;12569164;12592555;12921762;14628082;14702039;14726805;14744996;15071507;15164054;15456891;15468306;15489334;15574326;15574327;15723659;15731174;15811628;15936993;16093244;16600297;16857680;16874298;17121861;17169382;17242184;17932067;18034425;18252213;18270339;19022407;19074885;19075292;19075392;19398950;19423708;19692705;19779458;19859091;19953608;20003485;20496165;20522537;20528238;20543526;20610542;20975951;21390052;21531702;21596788;21641068;21785230;22134138;22527898;22529269;22713703;22730303;23044421;23219551;23465063;23967291;24230999;24500713;7566098;9443881 64421 B3KMX5;B3KSJ7;Q96SD1;X6R9W9;X6RCQ3;X6RJV5 ABBA01034603;ABBA01034604;AF088055;AF395747;AF395748;AF395749;AF395750;AF395751;AF395752;AJ296101;AK021422;AK022922;AK093757;AK290598;AK307912;AL360083;AMYH02022203;AMYH02022204;AMYH02022205;AW954867;BC000863;BC009185;BC022254;BC067233;BC108276;BE799340;BQ932042;BX648858;CH471072;DQ504427;NG_007276;NM_001033855;NM_001033857;NM_001033858;NM_001289076;NM_001289077;NM_001289078;NM_001289079;NM_022487;NR_110297;XM_005252558;XM_006717491;XR_242702 AAH00863;AAH09185;AAH22254;AAM53255;AAM53256;AAM53257;AAM53258;AAM53259;AAM53260;ABF47101;BAB13820;BAF83287;BAG51137;BAG52759;CAC37570;EAW86248;EAW86249;EAW86250;EAW86251;EAW86252;NP_001029027;NP_001029029;NP_001029030;NP_001276005;NP_001276006;NP_001276007;NP_001276008;NP_071932;Q96SD1;XP_005252615;XP_006717554 Hs.655932;Hs.656065 1670557;2125965;2145366;2171378;2219070;5015881 A007G45;DCLRE1C__4679;GDB:335751;RH66273;STS-R68462;WI-15434 A-SCID;DCLREC1C;FLJ11360;FLJ36438;RS-SCID;SNM1C;hSNM1C DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae);DNA cross-link repair 1C protein;OTTHUMP00000019166;OTTHUMP00000019167;OTTHUMP00000019168;OTTHUMP00000019169;OTTHUMP00000019170;OTTHUMP00000019171;OTTHUMP00000019172;OTTHUMP00000019173;OTTHUMP00000019174;PSO2 homolog;SCIDA;SNM1 homolog C;SNM1-like protein;protein artemis;severe combined immunodeficiency, type a (Athabascan) APPROVED protein-coding ENSG00000152457 HGNC:17642 05817 602450;603554;605988 REVIEWED 1349747 DCP2 decapping mRNA 2 The protein encoded by this gene is a key component of an mRNA-decapping complex required for degradation of mRNAs, both in normal mRNA turnover, and in nonsense-mediated mRNA decay (NMD). It removes the 7-methyl guanine cap structure from mRNA, prior to its degradation from the 5' end. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011] 5 5 5 q22.2 108258041 108302285 + 112312399 112357892 + 112976702 113022195 + 1580863;6480464 12218187;12417715;12477932;12486012;12515382;12768200;12923261;14527413;14702039;15067023;15231747;15273322;15489334;15937477;16344560;16364915;16699599;16756390;17081983;17207965;18039849;18172165;18361920;18854154;19322201;20360068;21070968;21139048;21672539;22678362;22851315;23085078;23115303;23891004;23926332;24510189;24778252;24816145;25036637;9490301 167227 B7Z3U5;D6RCL0;H0Y9T5;Q8IU60 AA837315;AB002445;ABBA01069048;ABBA01069049;AC008536;AK025019;AK090564;AK296361;AK311298;AL135390;AMYH02011979;AY135173;AY146650;BC017965;BC045596;BC064593;BC068042;BG720562;BX537716;BX648838;CF994730;CH471086;DB146225;KC877088;KF457976;NG_029929;NM_001242377;NM_152624;NR_038352;XM_005271914 AAH45596;AAH64593;AAN08884;AAN62762;ADQ32568;BAC03479;BAH12331;EAW48988;EAW48989;EAW48990;EAW48991;EAW48992;NP_001229306;NP_689837;Q8IU60;XP_005271971 Hs.443875 1644836;1679445;1712162;2118478;2181105;5022576;5022578;5093872 A004W46;A009Y12;D1S1361;D1S1423;G32974;G54131;RH78455;RH93998 FLJ33245;NUDT20;hDpc DCP2 decapping enzyme homolog;OTTHUMP00000222834;OTTHUMP00000222835;OTTHUMP00000222836;m7GpppN-mRNA hydrolase;mRNA-decapping enzyme 2;nucleoside diphosphate-linked moiety X motif 20;nudix (nucleoside diphosphate linked moiety X)-type motif 20;nudix motif 20 APPROVED protein-coding ENSG00000172795 HGNC:24452 13125 609844 REVIEWED 1350850 DCR Down syndrome chromosome region ASSOCIATED WITH Down Syndrome (inferred) 7240710 1829580 1637 HGNC:2708 190685 1321192 DCLRE1B DNA cross-link repair 1B DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008] 1 1 1 p13.2 112677139 112685932 + 114447915 114456708 + 113905293 113914086 + 1580863;6480464 10848582;12477932;14702039;15467758;15489334;15572677;16606622;16710414;16730175;16730176;18468965;18469862;18593705;19197158;19411856;20655466;21217703;21478198;21906983;22692201;22907656;23128233;23189151;23535729;23863462 64858 Q9H816 ABBA01068458;AF306690;AF306691;AF306692;AF306693;AI669133;AK022872;AK024060;AL137856;AMYH02001778;AY849379;BC011950;BC029687;CH471122;CR936679;DR005221;NM_022836;XM_005271130 AAH29687;AAV97812;ADZ15683;BAB14284;BAB14807;EAW56582;EAW56583;NP_073747;Q9H816;XP_005271187 Hs.591412 DKFZp686C24187;FLJ12810;FLJ13998;SNM1B;SNMIB 5' exonuclease Apollo;APOLLO;DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae);DNA cross-link repair 1B protein;OTTHUMP00000013722;PSO2 homolog;SNM1 homolog B APPROVED protein-coding ENSG00000118655 HGNC:17641 16785 609683 VALIDATED 68655 DCLK1 doublecortin-like kinase 1 This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010] 13 13 13 q13 17410025 17772331 - 36342789 36705514 - 35768652 36132020 - 1580863;6480464;8554872 10036192;10051403;11124993;11473121;11884394;12477932;12595708;12692530;14613930;14741399;15203218;15345747;16548883;16869982;17110338;17313568;17903306;17975023;18052980;19844571;20228126;20236041;20379614;20548946;21285251;21493956;21832049;21916995;21937640;21998595;22539971;22560479;22747683;22749579;23202126;23251661;23535911;23918955;24040120;24096005;24260365;24626093;24880079;8515813;8619474;8889548;9110174;9205841;9747029 9201 B7Z5K4;O15075;Q5VZY9 AB002367;ABBA01010171;ABBA01010172;ABBA01010173;ABBA01021363;AF052152;AF070534;AK295102;AK295777;AK299059;AK299829;AK308925;AK311183;AK311195;AK311434;AK311438;AK311459;AL139083;AL157694;AL157760;AL160392;AL390029;AMYH02027858;AMYH02027859;AMYH02027860;AMYH02027861;AMYH02027862;AMYH02027863;AMYH02027864;BC152456;BE672499;BI824620;BM682165;BQ711413;CD619255;CH471075;CR627093;HI584573;NM_001195415;NM_001195416;NM_001195430;NM_004734;XM_005266592;XM_006719893 AAI52457;AAI60043;BAA20824;BAH11973;BAH12185;BAH12940;BAH13141;CBX55086;EAX08550;EAX08551;NP_001182344;NP_001182345;NP_001182359;NP_004725;O15075;XP_005266649;XP_006719956 Hs.507755;Hs.728619 1645813;1672740;1706864;1714635;1717131;1720101;1750809;1751221;1789066;1852996;1854890;2111758;2116454;2121189;2121994;2128446;2138975;2146867;2151078;2162557;2165153;2169581;2170282;2183610;2184373;2218462 A008Z44;AFMB316WB5;D13S1159;D13S1164;D13S1174;D13S1646;D13S240;D13S849E;DCAMKL1_4674;G17692;G65669;RH11210;RH119982;RH121485;RH123792;RH44747;RH44822;RH46169;RH78794;SHGC-103675;SHGC-105091;SHGC-56401;SHGC-80915;STS-Z40654;WI-14261;WI-21179 CL1;CLICK1;DCAMKL1;DCDC3A;DCLK;KIAA0369 OTTHUMP00000018250;OTTHUMP00000018251;OTTHUMP00000018252;double cortin and calcium/calmodulin-dependent protein kinase-like 1;doublecortin and CaM kinase-like 1;doublecortin domain-containing protein 3A;doublecortin-like and CAM kinase-like 1;serine/threonine-protein kinase DCLK1 APPROVED protein-coding ENSG00000133083 HGNC:2700 09202 604742 REVIEWED 1314610 DCLRE1A DNA cross-link repair 1A This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 10 10 10 q25.1 109321854 109341216 - 115594483 115614163 - 113834724 113854404 - 6480464;8554872 10848582;12446782;12477932;12509242;15164054;15489334;15542852;15572677;16344560;16385451;17804464;18006388;18029348;18180189;18848520;20385554;20528238;21139048;21896658;22692201;7788527;9806498 9937 Q09LL8;Q6PJP8 ABBA01062988;AK307187;AL592546;AMYH02023844;AY607842;BC013124;BC062582;CH471066;D42045;DA456679;DB224073;H98725;NM_001271816;NM_014881;XM_006718090 AAH13124;AAH62582;AAT09762;BAA07646;EAW49489;EAW49490;NP_001258745;NP_055696;Q6PJP8;XP_006718153 Hs.1560;Hs.703616 1669236;2142400;5090934;5491956 D10S2349;D10S592;DCLRE1A;RH25314 KIAA0086;PSO2;SNM1;SNM1A;hSNM1A DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae);DNA cross-link repair 1A protein;DNA-crosslink repair gene SNM1;OTTHUMP00000020516;OTTHUMP00000020517;PSO2 homolog;SNM1 homolog A APPROVED protein-coding ENSG00000198924 HGNC:17660 08519 609682 REVIEWED 1602181 DCST1 DC-STAMP domain containing 1 This gene encodes a protein with a domain similar to one found in dendritic cells (PMID:11169400) which play a key role in antigen processing and display for immune responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 1 1 1 q22 128077323 128094429 + 155006256 155023406 + 155033806 155050930 + 6480464;8554872 11169400;12477932;14702039;21145461;23443559;23535732 149095 B4DXB8;B4DXE3;E9PJX3;Q5T197 ABBA01016720;AF314227;AK057347;AK301876;AK301902;AK301935;AL451085;AMYH02001938;AMYH02001939;BC064844;CH471121;NG_027536;NM_001143687;NM_152494 AAH64844;AAS46286;BAB71440;BAG63312;BAG63330;BAG63355;EAW53143;NP_001137159;NP_689707;Q5T197 Hs.567717 2143068 RH78401 FLJ32785;RP11-307C12.10 DC-STAMP domain-containing protein 1;OTTHUMP00000038746;OTTHUMP00000038747;OTTHUMP00000231879;OTTHUMP00000231880 APPROVED protein-coding ENSG00000163357 HGNC:26539 08733 REVIEWED 1344529 DCPS decapping enzyme, scavenger ENCODES a protein that exhibits m7G(5')pppN diphosphatase activity; RNA 7-methylguanosine cap binding; INVOLVED IN cellular response to menadione; mRNA cis splicing, via spliceosome; negative regulation of programmed cell death; FOUND IN cytoplasm; mitochondrion; nucleus; INTERACTS WITH 2-methylcholine; benzo[a]pyrene; cobalt dichloride 11 11 11 q24.2 123338823 123380801 + 126173647 126215644 + 126303752 126345749 + 727225;1580863;6480464 12198172 11042152;11747811;12477932;12871939;14523240;14702039;15068804;15161933;15273322;15383679;15489334;15769464;16140270;17207965;17549794;18029348;18426921;18441014;18725266;18839960;21139048;21890473;21906983;21963094;21988832;22053931;22505724;22863883;23000965;24250222;24654937;24816145;25015289;25043029;8125298 28960 Q53G42;Q96C86 ABBA01031221;AF077201;AF532613;AK026554;AK090828;AK223089;AK307403;AMYH02025747;AMYH02025748;AP001318;AY040771;AY077684;BC014532;CH471065;NM_014026 AAD26996;AAH14532;AAK91765;AAL77216;AAM90310;ADQ31697;BAD96809;EAW67691;NP_054745;Q96C86 Hs.504249 1652044;1855354;2131480;2131482;2135814;2165177 A005D35;A005N41;A008S31;G20363;HSC1IE112;SHGC-34118 DCS-1;DCS1;HINT-5;HINT5;HSL1;HSPC015 OTTHUMP00000231113;decapping scavenger enzyme;heat shock-like protein 1;hint-related 7meGMP-directed hydrolase;histidine triad nucleotide-binding protein 5;histidine triad protein member 5;homolog of C. elegans 7meGMP-directed hydrolase dcs-1;m7GpppX diphosphatase;mRNA decapping enzyme;scavenger mRNA-decapping enzyme DcpS protein-coding ENSG00000110063 HGNC:29812 16787 610534 VALIDATED 1346102 DCN decorin The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to biglycan protein. The encoded protein and biglycan are thought to be the result of a gene duplication. This protein is a component of connective tissue, binds to type I collagen fibrils, and plays a role in matrix assembly. It contains one attached glycosaminoglycan chain. This protein is capable of suppressing the growth of various tumor cell lines. There are multiple alternatively spliced transcript variants known for this gene. This gene is a candidate gene for Marfan syndrome. [provided by RefSeq, Jul 2008] 12 12 12 q21.33 91210186 91247962 - 91539035 91576806 - 91145258 91183029 - 1580863;2298922;2311424;2311425;1598727;2311418;2311417;2311410;2311411;2311412;2311413;2311414;2311415;2311416;1600551;2311423;1598497;6480464;6907045;7240710;8554872;8699517 11259366;12187087;12809600;14654066;15475879;15713786;16005714;16311904;16387756;16630654;16868749;17244723;17884968;18414424;18688028;19393425 10382266;10747008;10793130;11185075;11598131;11723132;11879191;11979972;12071714;12105206;12106908;12176891;12372409;12387878;12477932;12482864;12601001;12730206;12853035;1431141;14633702;14660661;1468447;15016081;15016829;15147736;15147741;15209389;15291816;15336555;1544908;15489334;1550960;15652541;15671264;15785240;15811857;15923192;15949467;15994311;1611907;16258169;16434404;16467781;16583246;16835231;16844696;16902402;16935612;16938379;16989735;17046817;17067743;17097211;17146610;17286067;17335953;17396208;17516017;17558846;17651433;17952560;18029348;18373940;18413316;18413650;18436739;18505923;18514055;18620607;18621549;18638554;18830193;19036156;19212830;19433454;19453261;19589127;19590249;19590686;19616852;19678923;19684189;1968422;19737460;19834535;19864245;19913121;20026052;20301741;20357198;20360993;20398359;20484579;20546727;20591329;2059554;20628086;20628624;20644730;20707770;20974860;21185747;21205989;21360479;21658281;21702857;21723264;21791066;21791437;21809347;21840990;21958730;21993463;22104218;2211661;22159220;22329809;22363530;22479366;22490077;22512703;22678721;22870031;22871215;22880013;22888166;22990118;22992875;23007289;23029096;23193185;23431957;23685109;2374594;23747391;2375748;23798385;23851508;23889174;23939413;24023624;24142880;24146840;24152495;24256371;24272200;24413633;24424784;24996176;2590169;2647739;3194009;3484330;3597437;7638106;7798269;7961765;8093006;8432526;8432527;8440685;8889548;9148753;9252349;9328841;9435313;9675033;9895299;9988678 1634 F8VNV6;F8VNW0;F8VSI3;F8VU58;F8VUF6;F8VWU0;F8VX58;F8VXZ8;H0YI87;H0YIH3;P07585;Q6FH10 ABBA01053408;ABBA01053409;AC007115;AF138300;AF138301;AF138302;AF138303;AF138304;AF491944;AK291309;AL355731;AMYH02026915;BC005322;BG536640;BG538290;BM672011;BT019800;BX571756;CD689331;CH471054;CR407676;CR541946;L01131;NG_011672;NM_001920;NM_133503;NM_133504;NM_133505;NM_133506;NM_133507;XM_005268693;XM_006719270 AAA52301;AAD44713;AAD44714;AAD44715;AAF61437;AAF61438;AAH05322;AAL92176;AAV38603;ABM83482;ABM86695;BAF83998;CAE11881;CAG28604;CAG46744;EAW97450;EAW97451;EAW97452;EAW97453;EAW97454;EAW97455;EAW97456;EAW97457;EAW97458;EAW97459;EAW97460;NP_001911;NP_598010;NP_598011;NP_598012;NP_598013;NP_598014;P07585;XP_005268750;XP_006719333 Hs.156316 1665795;1699968;1742599;1744043;1777695;1852025;2150305;2176629;2186608;5491447 GDB:197931;GDB:384910;MARC_12473-12474:997213223:1;RH103594;RH41859;RH68984;SHGC-17552;SHGC-53083;WI-17110;WI-20146 CSCD;DSPG2;PG-S2;PG40;PGII;PGS2;SLRR1B OTTHUMP00000242890;OTTHUMP00000242892;OTTHUMP00000242893;OTTHUMP00000242894;OTTHUMP00000242895;OTTHUMP00000246199;OTTHUMP00000246200;bone proteoglycan II;decorin proteoglycan;dermatan sulphate proteoglycans II;proteoglycan core protein;small leucine-rich protein 1B APPROVED protein-coding ENSG00000011465 HGNC:2705 00501 125255;610048 REVIEWED 6770566 DCTN1-AS1 DCTN1 antisense RNA 1 2 2 2 p13 74444035 74452198 + 74612845 74621008 + 74385718 74393881 + 12477932 100189589 ABBA01075600;AC005041;AMYH02004090;BC042946;HG494210;HG494211;HG494212;NR_024463 Hs.585961 AC005041.9 APPROVED ncrna ENSG00000237737 HGNC:44151 VALIDATED 1606730 DCST2 DC-STAMP domain containing 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH amiodarone; phenobarbital (ortholog); pirinixic acid (ortholog) 1 1 1 q22 128062026 128077280 - 154991003 155006257 - 155017446 155033781 - 6480464;8554872 12477932;14702039;15489334;16344560;16710414;18952287;23535732 127579 H0YF62;Q5T1A1 AA401747;ABBA01016720;AK057496;AK097468;AK097993;AL451085;AMYH02001938;BC111794;CH471121;DB025590;NM_144622;XM_006711164 AAI11795;AAI66652;BAB71511;BAC05065;BAC05211;EAW53146;EAW53147;EAW53148;NP_653223;Q5T1A1;XP_006711227 Hs.591491 FLJ32934;RP11-307C12.4 DC-STAMP domain-containing protein 2;OTTHUMP00000035490;OTTHUMP00000035491;OTTHUMP00000035492 protein-coding ENSG00000163354 HGNC:26562 08739 VALIDATED 1352908 DCTN2 dynactin 2 (p50) This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2012] 12 12 12 q13.3 57579926 57596808 - 57923833 57941114 - 57530050 57547331 - 1331348;1580863;6480464;6907045 8647893 10226031;10525537;10671518;10811826;10827182;11076968;11153697;11483508;11889140;12221128;12401177;12477932;12665801;12852856;14702039;14970193;14983524;15144186;15345747;15489334;15570572;15580264;15813749;16043481;16051887;16169070;16189514;16196087;16344560;16369996;16462731;17043677;17139249;17207965;17609108;18029348;18182012;18782227;19019082;19056867;19286658;20029029;20360068;20463029;20936779;21139048;21145461;21890473;21900206;21906983;21988832;22053931;22863883;22939629;22956769;23000965;23184937;24816145;7790358;8125298;9700164 10540 F5H2S7;F8VRV7;F8VW18;F8VX93;F8W0U6;F8W1I6;H0YHL1;H0YI98;Q13561;V9HW58 ABBA01026698;AC022366;AC022506;AK055682;AK096242;AK098794;AK222693;AK292364;AK314705;AMYH02026588;AY189155;BC000718;BC009468;BC014083;CH471054;DB027733;DB569305;FJ224315;NM_001261412;NM_001261413;NM_006400;U50733 AAC50423;AAH00718;AAH09468;AAH14083;AAO34395;ACI46007;ADQ31688;BAD96413;BAF85053;BAG37252;BAG51555;BAG53236;EAW97027;EAW97028;EAW97029;NP_001248341;NP_001248342;NP_006391;Q13561 Hs.289123 1746861;1850637;2160173;5094898 DCTN2;G64804;RH70660;STS-U50733 DCTN50;HEL-S-77;RBP50 50 kD dynein-associated polypeptide;50 kDa dynein-associated polypeptide;OTTHUMP00000242915;OTTHUMP00000242917;OTTHUMP00000242918;OTTHUMP00000243045;OTTHUMP00000243046;dynactin complex 50 kD subunit;dynactin complex 50 kDa subunit;dynactin subunit 2;dynamitin;epididymis secretory protein Li 77;p50 dynamitin APPROVED protein-coding ENSG00000175203 HGNC:2712 09568 607376 REVIEWED 1321334 DCSTAMP dendrocyte expressed seven transmembrane protein This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 8 8 8 q23 101538720 101555582 + 105352024 105368917 + 104339796 104356689 + 1580863;6480464 11169400;11345586;11345591;12477932;14702039;15489334;15601667;16344560;18952287;19259350;20546900;20797317;20839008;21623375;21987375;22058328;23525827;24370779 81501 Q9H295 ABBA01037648;AF277290;AF305068;AK095417;AMYH02018551;AP003471;BC069349;BC112018;BC112020;BC171732;CH471060;DA154308;NM_001257317;NM_030788;XM_005251075 AAG39167;AAH69349;AAI12019;AAI12021;AAI71732;AAL02152;BAG53050;EAW91892;NP_001244246;NP_110415;Q9H295;XP_005251132 Hs.652230;Hs.741954 2110359 DCSTAMP__4680 FIND;MGC138223;MGC138225;MGC177336;TM7SF4;hDC-STAMP DC-specific transmembrane protein;Dendritic cells (DC)-specific transmembrane protein;IL-4-induced protein;IL-Four (IL-4) induced;IL-Four INDuced;IL-four-induced protein;OTTHUMP00000227835;dendritic cell-specific transmembrane protein;dendrocyte-expressed seven transmembrane protein;transmembrane 7 superfamily member 4 APPROVED protein-coding ENSG00000164935 HGNC:18549 07295 605933 REVIEWED 1342702 DCT dopachrome tautomerase ENCODES a protein that exhibits dopachrome isomerase activity (ortholog); INVOLVED IN melanin biosynthetic process from tyrosine (ortholog); PARTICIPATES IN tyrosine metabolic pathway; FOUND IN cytosol (ortholog); melanosome (ortholog); INTERACTS WITH (+)-artemisinic acid; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 13 13 13 q32 75940079 75980144 - 95091835 95131936 - 94439581 94479682 - 1580863;6480464;6907045 10079069;10886507;11549113;11777994;11851878;12477932;12559959;12643545;12843792;15057823;15342556;1537334;15489334;15856458;16857183;17081065;17200659;17766092;18206123;18312627;18337837;18674612;19284502;19855129;20221248;20356546;20520707;22898827;22988252;7855064;7858411;7929451;8040609;8088811;8126111;8148378;8206391;8267597;8306979;8530077;8898931;8950502;8976176;9176405;9356298;9480844;9540976;9743519 1638 P40126 ABBA01027211;AJ000503;AJ132932;AK293115;AL139318;AMYH02028500;AMYH02028501;BC028311;BP221841;CH471085;D17547;D28767;DQ821585;DQ821586;DQ821587;DQ821588;DQ821589;DQ821590;DQ821591;DQ821592;DQ821593;DQ821594;DQ821595;DQ821596;DQ821597;DQ821598;DQ821599;DQ821600;DQ821601;DQ821602;DQ821603;DQ821604;DQ821605;DQ821606;DQ821607;DQ821608;DQ821609;DQ821610;DQ821611;DQ821612;DQ821613;DQ821614;DQ821615;DQ821616;DQ821617;DQ821618;DQ821619;DQ821620;DQ821621;DQ821622;DQ821623;DQ821624;DQ821625;DQ821626;DQ821627;DQ821628;DQ821629;DQ821630;DQ821631;DQ821632;DQ821633;DQ821634;DQ821635;DQ821636;DQ821637;DQ821638;DQ821639;DQ821640;DQ821641;DQ821642;DQ821643;DQ821644;DQ821645;DQ821646;DQ821647;DQ821648;DQ821649;DQ821650;DQ821651;DQ821652;DQ821653;DQ821654;DQ821655;DQ821656;DQ821657;DQ821658;DQ821659;DQ821660;DQ821661;DQ821662;DQ821663;DQ821664;DQ821665;DQ821666;DQ821667;DQ821668;DQ821669;DQ821670;DQ821671;DQ821672;DQ821673;DQ821674;DQ821675;DQ821676;DQ821677;DQ821678;DQ821679;DQ821680;DQ821681;DQ821682;DQ821683;DQ821684;DQ821685;DQ821686;DQ821687;DQ821688;DQ821689;DQ821690;DQ821691;DQ821692;DQ821693;DQ821694;DQ821695;DQ821696;DQ821697;DQ821698;DQ821699;DQ821700;DQ902581;L18967;L38953;NM_001129889;NM_001922;S69231 AAA20870;AAC41925;AAC60627;AAH28311;ABG82045;ABG82046;ABG82047;ABG82048;ABG82049;ABG82050;ABG82051;ABG82052;ABG82053;ABG82054;ABG82055;ABG82056;ABG82057;ABG82058;ABG82059;ABG82060;ABG82061;ABG82062;ABG82063;ABG82064;ABG82065;ABG82066;ABG82067;ABG82068;ABG82069;ABG82070;ABG82071;ABG82072;ABG82073;ABG82074;ABG82075;ABG82076;ABG82077;ABG82078;ABG82079;ABG82080;ABG82081;ABG82082;ABG82083;ABG82084;ABG82085;ABG82086;ABG82087;ABG82088;ABG82089;ABG82090;ABG82091;ABG82092;ABG82093;ABG82094;ABG82095;ABG82096;ABG82097;ABG82098;ABG82099;ABG82100;ABG82101;ABG82102;ABG82103;ABG82104;ABG82105;ABG82106;ABG82107;ABG82108;ABG82109;ABG82110;ABG82111;ABG82112;ABG82113;ABG82114;ABG82115;ABG82116;ABG82117;ABG82118;ABG82119;ABG82120;ABG82121;ABG82122;ABG82123;ABG82124;ABG82125;ABG82126;ABG82127;ABG82128;ABG82129;ABG82130;ABG82131;ABG82132;ABG82133;ABG82134;ABG82135;ABG82136;ABG82137;ABG82138;ABG82139;ABG82140;ABG82141;ABG82142;ABG82143;ABG82144;ABG82145;ABG82146;ABG82147;ABG82148;ABG82149;ABG82150;ABG82151;ABG82152;ABG82153;ABG82154;ABG82155;ABG82156;ABG82157;ABG82158;ABG82159;ABG82160;ABI73976;ABM82392;ABM85575;BAA04484;BAA05956;BAF85804;CAA04137;CAB93530;EAX08937;EAX08938;EAX08939;NP_001123361;NP_001913;P40126 Hs.301865 1648832;1666413;1683661;1686778;1791374;1847162;2219072 D13S1166;DCT__4681;PMC108780P1;RH39628;RH80082;SHGC-36410;SHGC-54546 DT;TRP-2;TRP2;TYRP2 L-dopachrome Delta-isomerase;L-dopachrome tautomerase;OTTHUMP00000018553;dopachrome delta-isomerase;dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2);tyrosinase-related protein 2;tyrosine-related protein 2 APPROVED protein-coding ENSG00000080166 HGNC:2709 01864 191275 VALIDATED 1349899 DCTD dCMP deaminase The protein encoded by this gene catalyzes the deamination of dCMP to dUMP, the nucleotide substrate for thymidylate synthase. The encoded protein is allosterically activated by dCTP and inhibited by dTTP, and is found as a homohexamer. This protein uses zinc as a cofactor for its activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q35.1 181145398 181172940 - 183811244 183838630 - 182890091 182917477 - 1580863;6480464;6907045 12477932;15489334;15592455;16189514;17602053;19322201;20028759;20665488;21139048;21988832;23251661;23740775;24816145;3627112;7642519;7685356;8448179 1635 D6R9P0;D6R9S0;D6RAD7;D6RAR9;D6RBJ9;D6RBN2;D6RC36;D6RD72;D6RIG3;D6RJA9;P32321 ABBA01070495;ABBA01070496;AC079766;AK293135;AK310788;AK313221;AMYH02010630;AMYH02010631;BC001286;BC088357;BI544680;BQ228061;BU188090;CH471056;L12136;L39874;NM_001012732;NM_001921;XM_005262778;XM_005262779;XM_005262780;XM_005262781;XM_005262782;XM_006714113;XM_006714114;XM_006714115;XM_006714116 AAA35755;AAC37579;AAH01286;AAH88357;BAG36033;BAG56683;EAX04697;EAX04698;EAX04699;EAX04700;EAX04701;NP_001012750;NP_001912;P32321;XP_005262835;XP_005262836;XP_005262837;XP_005262838;XP_005262839;XP_006714176;XP_006714177;XP_006714178;XP_006714179 Hs.183850 1784944;2127393;2160402 SHGC-106469;SHGC-12416;SHGC-59529 MGC111062 OTTHUMP00000218732;OTTHUMP00000218733;OTTHUMP00000218780;OTTHUMP00000218783;OTTHUMP00000218789;deoxycytidylate deaminase APPROVED protein-coding ENSG00000129187 HGNC:2710 09623 607638 REVIEWED 1603378 DCTN5 dynactin 5 (p25) This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomplex and is thought to bind membranous cargo. A pseudogene of this gene is located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 16 16 16 p12.2 22430985 22459355 + 23652687 23685068 + 23641366 23673747 + 6480464;6907045;8554872 10525537;12477932;14702039;15043994;15489334;16189514;16344560;17554300;20360068;20508983;21139048;21890473;21906983;22505724 84516 H3BR94;H3BS05;H3BUD2;I3L0U8;Q9BTE1 ABBA01017072;AC008870;AK027387;AK126469;AK292843;AK299631;AMYH02031703;AMYH02031704;BC004191;CD388246;CH471145;CR745557;DA310703;DB087566;NM_001199011;NM_001199743;NM_032486;NR_037573;XR_243320 AAH04191;ADZ15660;BAB55077;BAF85532;BAG61559;EAW55808;EAW55809;EAW55810;NP_001185940;NP_001186672;NP_115875;Q9BTE1 Hs.435941 1688223;1772893;2119484;2138569;2152127;2186196;5021872;5037552 D8S2279;G17934;RH68099;RH79716;SHGC-14427;SHGC-60478;SHGC-60850;sY3084 MGC3248;p25 OTTHUMP00000162370;dynactin 4;dynactin subunit 5;dynactin subunit p25 APPROVED protein-coding HGNC:24594 14551 612962 REVIEWED 1603060 DCTN1 dynactin 1 This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008] 2 2 2 p13 74419471 74450404 - 74588281 74619214 - 74361154 74392087 - 5535748;5534575;5539209;6480464;6484113;6907045;7240710;8554872;8699517 18364389;19136952;20702129 10074429;10189366;10196146;10525537;10671518;10978526;11056532;11076968;11153697;11425872;11461920;11483508;11889140;12063394;12111331;12221128;12388762;12391026;12401177;12447383;12477932;12627231;12665801;12789661;12852856;12852857;12857853;14514668;14581450;14584027;14600259;14702039;14718566;15067220;15107855;15231748;15326253;15375157;15489334;15580264;15604093;16043481;16169070;16240349;16344560;16462731;16473624;16505168;16600870;16772339;17043677;17139249;17344930;17353931;17360970;17532294;17824900;17828277;17932487;18000879;18081319;18094236;1828535;18305234;18325928;18812314;18922795;19279216;19468067;19506225;19564404;19778315;19935774;19946888;20195357;20301623;20360068;20360680;20437543;20508983;20518521;20679239;20682791;20719959;20936779;20945553;21139048;21145461;21525035;21900206;21906983;21915335;21963094;21987572;22119847;22279557;22321011;22357949;22373868;22505724;22542187;22777741;22939629;22956769;22987636;23000965;23143281;23184937;23386061;23547029;23658844;23874158;23985322;24343258;24639526;24816145;25027693;7790358;7878030;8325901;8522607;8838327;8856662;8955163;8991093;9235942;9244444;9342383;9361024;9454836;9722614;9799602;9805007 1639 C9J1B7;C9JJD0;C9JJN7;C9JKG6;C9JTE5;C9JUI8;C9JZA4;E7EX90;E9PCY0;Q14203;Q6AWB1;Q6MZZ3 AB209625;ABBA01075600;AC005041;AF064203;AF064204;AF064205;AF086947;AJ709213;AK055298;AK297286;AK314352;AK315014;AMYH02004090;BC006163;BC013978;BC071583;BT006758;BX640799;BX647925;BX647972;CA448857;CH471053;DA111497;DA315227;DA417935;DC309469;NG_008735;NM_001135040;NM_001135041;NM_001190836;NM_001190837;NM_004082;NM_023019;NR_033935;U73799;U90445;X98801 AAB52575;AAD00701;AAD03694;AAD55811;AAD55812;AAH71583;AAP35404;ACE86518;ACE87197;BAD92862;BAG59757;CAA67333;CAE45882;CAH10572;CAH10575;EAW99684;EAW99685;EAW99686;EAW99687;NP_001128512;NP_001128513;NP_001177765;NP_001177766;NP_004073;NP_075408;Q14203 Hs.516111 1654056;1705094;2107995;2177632;2177634;2189343;2189449;2191179 DCTN1_8291;IB662;MARC_15767-15768:1017940424:1;MARC_1819-1820:991931443:3;MARC_6321-6322:992007238:1;RH11966;SHGC-4184;SHGC-79964 DAP-150;DP-150;HMN7B;P135 150 kDa dynein-associated polypeptide;OTTHUMP00000160423;OTTHUMP00000202448;OTTHUMP00000202490;OTTHUMP00000202491;OTTHUMP00000202530;OTTHUMP00000202531;OTTHUMP00000202532;dynactin 1 (p150, glued homolog, Drosophila);dynactin subunit 1;p150, Glued homolog;p150-glued APPROVED protein-coding ENSG00000204843 HGNC:2711 07206 105400;168605;601143;607641 REVIEWED 736897 DCTN4 dynactin 4 (p62) ENCODES a protein that exhibits protein N-terminus binding; INVOLVED IN antigen processing and presentation of exogenous peptide antigen via MHC class II (inferred); PARTICIPATES IN Huntington disease pathway; vasopressin signaling pathway via receptor type 2; FOUND IN centrosome; INTERACTS WITH cobalt dichloride; copper(2+) sulfate; methyl methanesulfonate 5 5 5 q31-q32 146169659 146220011 - 150088309 150138657 - 150708747 150759095 - 6480464;6907045 10074429;10671518;10843801;12477932;14702039;15489334;16554302;19109891;20360068;21139048;21693764;21890473;21906983;21963094;22772370;22863883;22939629;23000965 51164 E5RGG1;E5RI97;E5RK21;H9KVE0;Q9NSJ5;Q9UJW0 ABBA01026272;ABBA01026273;AC008450;AC008453;AF156165;AF195120;AK000299;AK125973;AK296787;AK299517;AK307757;AK311693;AL162085;AMYH02012462;AMYH02012463;BC026323;CH471062;DC321382;NM_001135643;NM_001135644;NM_016221;XM_005268457 AAF03896;AAH26323;ABM83265;ABM86470;BAA91066;BAG54272;BAG59365;BAG61469;CAB82417;EAW61706;EAW61707;EAW61708;EAW61709;NP_001129115;NP_001129116;NP_057305;Q9UJW0;XP_005268514 Hs.675564 1846763;1856320 A002Q42;RH71171 DYN4;P62 OTTHUMP00000160558;OTTHUMP00000224464;OTTHUMP00000224465;dynactin 4;dynactin p62 subunit;dynactin subunit 4;dynactin subunit p62 protein-coding ENSG00000132912 HGNC:15518 13126 614758 VALIDATED 6481185 DCUN1D2-AS DCUN1D2 antisense RNA q34 100874229 AI203167;AI698600;AL442125 Hs.604091 DCUN1D2-AS2 APPROVED ncrna HGNC:39889 6481178 DCUN1D2-AS1 DCUN1D2 antisense RNA 1 100874228 AL160251 APPROVED miscrna HGNC:39888 1602219 DCUN1D1 DCN1, defective in cullin neddylation 1, domain containing 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN ubiquitin ligase complex; INTERACTS WITH (-)-demecolcine; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2-methylcholine 3 3 3 q26.3 181095010 181132568 - 182660153 182703731 - 182941437 182985943 - 6480464;8554872 10777668;12477932;12796399;14702039;15123463;15231748;15489334;15511464;15623817;15657565;15840729;15988528;16189514;17018598;17207965;18781797;18826954;18980971;19473369;19617556;21139048;21145461;21247897;21813641;21890473;21906983;21963094;21987572;22505724;22863883;23000965;23201271;23401859;24192928;24250222;24654937;24816145;25015289 54165 C9J0B2;C9J8R4;C9JRU6;C9JUW4;C9JVE2;F8WC32;Q96GG9 ABBA01058488;ABBA01058489;ABBA01058490;AC092953;AF292100;AF456425;AF456426;AK025764;AK056335;AK297328;AK314480;AMYH02008272;AMYH02008273;BC009478;BC013163;CD687300;CH471052;CS104944;CS185538;HI999504;JC212107;NM_020640;XM_005247539;XM_005247540 AAG00606;AAH09478;AAH13163;AAL78672;AAL78673;ADQ32496;BAB15235;BAG37084;BAG51680;BAG59788;CAJ01275;CAJ42719;CCA61624;CDM22108;EAW78341;EAW78342;EAW78343;NP_065691;Q96GG9;XP_005247596;XP_005247597 Hs.744153 1647125;1684305;1739521;1851234;5015861;5113527 D10S16;D3S3423;RH16196;RH27225;RH79873;STS-H25432 DCNL1;DCUN1L1;RP42;SCCRO;SCRO;Tes3 DCN1-like protein 1;DCUN1 domain-containing protein 1;OTTHUMP00000212783;OTTHUMP00000212784;RP42 homolog;defective in cullin neddylation protein 1-like protein 1;squamous cell carcinoma related oncogene;squamous cell carcinoma-related oncogene APPROVED protein-coding HGNC:18184 12067 605905 VALIDATED 1602987 DCUN1D3 DCN1, defective in cullin neddylation 1, domain containing 3 INVOLVED IN negative regulation of cell growth; positive regulation of apoptotic process; response to gamma radiation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN perinuclear region of cytoplasm; INTERACTS WITH 2-methylcholine; aflatoxin B1; atrazine 16 16 16 p12.3 20179279 20221442 - 20866219 20911561 - 20858074 20900239 - 6480464;8554872 10493829;12477932;15988528;18823379;19322201;19617556;23201271 123879 Q8IWE4 ABBA01028287;ABBA01028288;AC002394;AK027199;AK123719;AMYH02031667;AY364247;BC040442;BX648998;CH471228;JC212113;NM_173475 AAH40442;AAQ76806;BAG53946;CDM22110;EAW66842;NP_775746;Q8IWE4 Hs.101007;Hs.592571 1334775;1681304;1682808;1710454;1723155;1754323;2135821;2189547 D16S3046;RH123762;RH67998;RH68228;RH70440;SHGC-132353;SHGC-86238;UniSTS:235764 44M2.4;DKFZp686G23203;DKFZp686O0290;FLJ41725;MGC48972 DCN1-like protein 3;DCUN1 domain-containing protein 3;OTTHUMP00000162291;defective in cullin neddylation protein 1-like protein 3 APPROVED protein-coding HGNC:28734 14660 VALIDATED 1319944 DCTN3 dynactin 3 (p22) This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 9 p13 34545051 34552000 - 34613542 34620520 - 34613545 34620523 - 1580863;6480464;8554872 10671518;11076968;11306820;12221128;12477932;12852856;14667819;14702039;15146197;15164053;15489334;16344560;16713569;20360068;21139048;21890473;21900206;21906983;21963094;22505724;22863883;22939629;7790358;9722614 11258 O75935;Q8NB28;X6RA56;X6RCK5;X6RLR1 ABBA01065009;AF082513;AK055199;AK091661;AK314730;AL160270;AL450283;AMYH02019450;AW953496;BC000319;BC003004;BC107697;BG715167;BI596981;BI837796;CH471071;CN257020;CR541889;DA212054;NM_001281425;NM_001281426;NM_001281427;NM_007234;NM_024348 AAC61280;AAH00319;AAH03004;AAI07698;ABM82906;ABW03466;BAC03716;BAG37272;CAG46687;EAW58439;EAW58440;EAW58441;EAW58442;NP_001268354;NP_001268355;NP_001268356;NP_009165;NP_077324;O75935 Hs.511768 1848948;2177562 Bdac7f05;WI-14194 DCTN-22;DCTN22;MGC111190;p22 OTTHUMP00000021289;OTTHUMP00000021292;OTTHUMP00000021293;dynactin 3, isoform 1;dynactin complex subunit 22 kDa subunit;dynactin light chain;dynactin subunit 3 APPROVED protein-coding ENSG00000137100 HGNC:2713 06303 607387 REVIEWED 1316808 DCTN6 dynactin 6 The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. [provided by RefSeq, Jul 2008] 8 8 8 p12-p11 28973101 29000347 + 30013813 30041155 + 30156297 30183639 + 1580863;6480464;6907045 10318868;10525537;12477932;15043994;15489334;17207965;20360068;21139048;21577200;21832049;21906983;21988832;22505724;23455152;9168138 10671 E5RFU3;E5RGW9;E5RIK5;E5RK00;O00399 ABBA01023671;AC026979;AK314128;AMYH02017712;BC013175;BI562535;CH471080;CR456851;D79389;D84145;NM_006571 AAH13175;ADQ32806;BAA19984;BAG36818;CAG33132;EAW63466;NP_006562;O00399 Hs.158427;Hs.721134 1724863;2112264;2121518 D8S2254;RH119195;WI-18347 WS-3;WS3;p27 OTTHUMP00000225071;OTTHUMP00000225091;dynactin subunit 6;dynactin subunit p27;novel RGD-containing protein APPROVED protein-coding ENSG00000104671 HGNC:16964 09907 612963 REVIEWED 1348637 DCX doublecortin This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, mental retardation, subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] X X X q22.3-q23 111016623 111134992 - 110537007 110655460 - 111293779 111412232 - 1580863;6480464;7240710;8554872;8699517 10369164;10399933;10441340;10807542;11001923;11175293;11468322;11591131;11601509;11857568;12027577;12223548;12390976;12427674;12477932;12552055;12692530;12838518;12885786;14550532;14702039;14741102;14741103;14999500;15045646;15057976;15345747;15489334;15607950;15663475;15714065;15772651;16195916;16344560;16520969;16835924;16869982;17081983;17111359;17178868;17207965;17283321;17482550;17897623;18415660;18685874;19050731;19094064;19221293;19713529;19844571;20236041;20301364;20726879;20974813;21044950;21477071;21832049;21846577;21966452;22727374;22779921;22833188;23260340;23583063;23667508;23846421;23940030;24034596;24945770;9132485;9489699;9489700;9618162;9668176;9817918;9989615 1641 A8K340;B4DM53;E7EU50;H3BLV5;O43602 ABBA01043303;ABBA01043304;ABBA01043305;ABBA01043306;ABBA01043307;ABBA01043308;ABBA01043309;ABBA01043310;ABBA01043311;ABBA01043312;ABBA01043313;ABBA01043314;ABBA01043315;ABBA01043316;ABBA01043317;AF034634;AF040254;AF040255;AJ003112;AJ005591;AJ005592;AK002120;AK290455;AK297297;AK299822;AL031117;AL450490;AMYH02040236;AU120758;AW163329;BC027925;CH471120;DA497601;DC375659;NG_011750;NM_000555;NM_001195553;NM_178151;NM_178152;NM_178153;XM_005262091 AAC31696;AAC31797;AAC52037;AAH27925;ADQ32309;BAF83144;BAG59765;BAG61691;CAA05867;CAA06617;EAX02642;EAX02643;EAX02644;EAX02645;EAX02646;EAX02647;EAX02648;EAX02649;NP_000546;NP_001182482;NP_835364;NP_835365;NP_835366;O43602;XP_005262148 Hs.34780 1652739;1674735;1772000;1775574;1855029;1898770;2122716;2143802;2161462;2177898 AFM340za9;AL008939;DXS1188;DXS7357;REN20181;RH15935;RH47363;SHGC-34529;SHGC-58209;UniSTS:11003 DBCN;DC;FLJ51296;LISX;SCLH;XLIS;lis-X OTTHUMP00000023859;OTTHUMP00000023860;OTTHUMP00000216315;OTTHUMP00000216316;doublecortex;doublin;lissencephalin-X;neuronal migration protein doublecortin APPROVED protein-coding ENSG00000077279 HGNC:2714 02127 300067;300121 REVIEWED 1604387 DCUN1D4 DCN1, defective in cullin neddylation 1, domain containing 4 FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; methyl methanesulfonate; paracetamol 4 4 4 q12 50204352 50278086 + 52700010 52783003 + 51833844 51916837 + 6480464 11076863;11230166;11256614;12477932;15489334;15489336;15988528;16344560;16381901;18654987;19322201;21940857;23201271;9039502 23142 B4DH26;D6RAL8;D6RB33;D6RCB7;D6RDV8;D6RGX7;D6RIY3;H0Y907;H0Y9C5;H0YA35;Q92564 ABBA01003372;ABBA01003373;AC027271;AK027051;AK124346;AK294894;AK294896;AMYH02009193;AMYH02009194;AMYH02009195;BC015240;BC041702;BC053897;BX537944;CH471057;D87466;DA770685;DB199153;JC212116;NM_001040402;NM_001287755;NM_001287757;NM_015115;XM_005265731;XM_005265732;XM_005265733;XM_005265734;XR_245254;XR_427521 AAH53897;BAA13405;BAG57986;BAG57987;CAD97912;CAL37432;CAL37515;CAL37607;CAL38118;CDM22111;EAX05424;EAX05425;EAX05426;EAX05427;EAX05428;NP_001035492;NP_001274684;NP_001274686;NP_055930;Q92564;XP_005265788;XP_005265789;XP_005265790;XP_005265791 Hs.605388 1688006;1709022;2121951;5022578 D1S1423;SHGC-31041;SHGC-67360;SHGC-79579 FLJ42355;KIAA0276 DCN1-like protein 4;DCUN1 domain-containing protein 4;OTTHUMP00000158883;OTTHUMP00000158884;OTTHUMP00000218610;defective in cullin neddylation protein 1-like protein 4 APPROVED protein-coding ENSG00000109184 HGNC:28998 13791 612977 VALIDATED 1601973 DDA1 DET1 and DDB1 associated 1 INTERACTS WITH atrazine; benzo[a]pyrene; copper(2+) sulfate 19 19 19 p13.11 17322066 17335837 + 17420337 17434107 + 17309528 17323298 + 6480464 12477932;16949367;16964240;17452440;17557237;17609381;18464893;19295130;19322201;19615732;20360068;20551172;20562859;21139048;21145461;22072767;22190034;22505724;23273568;23443559;23849790;24390342;24412650;25117710 79016 Q9BW61 ABBA01051192;AC010463;AL832922;AMYH02035702;AY563006;BC000615;CH471106;DQ090952;NM_024050 AAH00615;AAS66629;AAZ41375;EAW84593;EAW84594;NP_076955;Q9BW61 Hs.466154 1673784;1679311;1683022;1689245;1773265;1857654;5015861;5024756;7185938 D10S16;RH70087;RH75817;RH79874;RH80030;RH93609;STS-W45157;WI-18581 C19orf58;MGC2594;PCIA-1;PCIA1 DET1- and DDB1-associated protein 1;cross-immune reaction antigen PCIA1;placenta cross-immune reaction antigen 1 protein-coding ENSG00000130311 HGNC:28360 15107 VALIDATED 1601967 DCTPP1 dCTP pyrophosphatase 1 ENCODES a protein that exhibits magnesium ion binding (ortholog); nucleoside-triphosphate diphosphatase activity (ortholog); INVOLVED IN nucleoside triphosphate catabolic process (ortholog); FOUND IN cytosol (ortholog); INTERACTS WITH 1-chloro-2,4-dinitrobenzene; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 16 16 16 p11.2 29857548 29863885 + 30435019 30441373 - 30423698 30430052 - 6480464 12477932;15740738;16169070;16189514;18029348;19596235;21145461;21671327;21832049;21890473;21906983;21963094;22863883;22939629;24467396;24550385;24816145 79077 H3BPN2;H3BSA6;Q9H773 ABBA01042026;AC116348;AC243825;AF210430;AF212242;AK024843;AY453409;BC001344;CH471192;CR457335;NM_024096 AAH01344;AAK14927;AAK48422;AAR26724;BAB15025;CAG33616;EAW52247;NP_077001;Q9H773 Hs.632191 1686915;1737585 D16S2672;SHGC-61066 CDA03;MGC5627;RS21C6;XTP3TPA OTTHUMP00000163253;XTP3-transactivated gene A protein;XTP3-transactivated protein A;dCTPase 1;deoxycytidine-triphosphatase 1 protein-coding ENSG00000179958 HGNC:28777 18310 615840 PROVISIONAL 1601949 DCUN1D5 DCN1, defective in cullin neddylation 1, domain containing 5 INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; cyclosporin A 11 11 11 q22.3 100082951 100124478 - 102921413 102962944 - 103050684 103092215 - 6480464 12477932;14702039;15489334;15988528;16196087;16344560;19471022;21139048;21890473;21906983;21988832;22505724;23098533;23201271;24057671;24163370;24192928 84259 B4DP84;E9PLH8;E9PLS2;E9PM04;E9PM78;E9PQV9;H0YCN4;H0YD80;J3QQL8;Q9BTE7 ABBA01039928;AK056993;AK094744;AK298227;AMYH02025493;AMYH02025494;AP001486;AY364246;BC004169;BC021074;CH471065;DB039638;HG504135;JC212119;NM_032299;XM_005271694;XM_005271695;XM_005271696 AAH04169;AAQ76805;BAB71336;BAG60496;CDM22112;EAW67036;EAW67037;EAW67038;NP_115675;Q9BTE7;XP_005271751;XP_005271752;XP_005271753 Hs.503716 1651729;1732780;1767510;2130378;2139680;2139956;2160613;2174710;2174712;2185545 A002B09;D11S1942E;D11S4578;D11S4624;G19877;RH12087;RH12902;SHGC-2678;SHGC-30884;STS-AA021186 FLJ32431;FLJ37425;MGC2714;RP11-690D19.3 DCN1-like protein 5;DCUN1 domain-containing protein 5;OTTHUMP00000231072;OTTHUMP00000231074;defective in cullin neddylation protein 1-like protein 5 APPROVED protein-coding ENSG00000137692 HGNC:28409 14520 VALIDATED 1343347 DDAH1 dimethylarginine dimethylaminohydrolase 1 This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008] 1 1 1 p22 84028261 84288153 - 85784168 86044046 - 85318485 85578363 - 1625582;1580863;6480464;8554872 16444868 10493931;10691782;10950934;11546769;11811522;12441345;12477932;14638548;14702039;15489334;15501905;15781754;15840729;16920729;17075694;17273169;17881609;17895252;18251679;18292189;19056867;19322201;19663506;19666120;19682581;19913121;20010544;20019334;20167924;20209122;20379614;20381070;20628086;20877624;21174581;21212404;21264497;21303562;21420186;21493890;21565611;21677199;21722652;21833088;21975354;22492959;22521321;22700861;22982060;23022711;23766377;23864585;23892448;24159190;24250222;24260221;24338975;7608105;8982498;9874257 23576 B1AKK2;B4DGT0;B4DYP1;B4E3V1;O94760 ABBA01045637;ABBA01045638;ABBA01045639;AC092807;AK024917;AK026093;AK055626;AK098405;AK294752;AK302531;AK304876;AK309225;AK312432;AL078459;AL360219;AMYH02001383;AMYH02001384;AMYH02001385;AMYH02001386;AW051386;BC033680;BC036432;BC043235;BX648145;CH471097;DC324361;EU794605;KF454970;NM_001134445;NM_012137;XM_005270706;XM_005270707;XM_005270708;XM_005270709;XM_005270710;XM_006710543;XM_006710544 AAH33680;AAH43235;ACJ13659;BAG35341;BAG57891;BAG63803;BAG65613;CAI45988;EAW73199;EAW73200;EAW73201;EAW73202;NP_001127917;NP_036269;O94760;XP_005270763;XP_005270764;XP_005270765;XP_005270766;XP_005270767;XP_006710606;XP_006710607 Hs.713411 1648666;1650887;1662623;1674286;1682165;1685081;1712951;1713465;1717013;1720401;1726445;1727559;1727685;1739929;1754413;1781526;1781634;1857967;2118992;2140759;2153651;2154247;2158942;2175437;2180473;2187233;5019675 A009C44;AL009580;D1S1172;D1S2449;D1S2519;D1S3471;D1S401;G32430;G59003;G62602;G63037;G63256;RH119591;RH120565;RH124035;RH25273;RH66527;RH93034;RH93291;SHGC-132432;SHGC-142641;SHGC-154514;SHGC-2550;SHGC-31693;SHGC-31729;SHGC-33805;SHGC-75085 DDAH;DDAH-1;FLJ21264;FLJ25539;HEL-S-16 DDAHI;N(G),N(G)-dimethylarginine dimethylaminohydrolase 1;NG, NG-dimethylarginine dimethylaminohydrolase;OTTHUMP00000012304;dimethylargininase-1;epididymis secretory protein Li 16 APPROVED protein-coding ENSG00000153904 HGNC:2715 09203 604743 REVIEWED 1323358 DCUN1D2 DCN1, defective in cullin neddylation 1, domain containing 2 INTERACTS WITH cyclosporin A; methyl methanesulfonate; quercetin 13 13 13 q34 94938125 94973014 - 114110134 114145024 - 113455819 113490709 - 6480464 12477932;14702039;15057823;15489334;15988528;16341674;17207965;19617556;21145461;21832049;23201271;24250222 55208 C9J2J1;C9J2J3;C9JAV2;C9JRE2;H7C216;Q6PH85 ABBA01019869;AK000099;AK001566;AL160251;AL442125;AMYH02028744;BC056669;BM836766;CH471085;JC212110;NM_001014283;XM_005268320;XM_005268321;XM_006719974;XM_006719975;XR_245842 AAH56669;ADQ32128;BAA90944;BAA91760;CDM22109;EAX09210;EAX09211;NP_001014305;Q6PH85;XP_005268377;XP_005268378;XP_006720037;XP_006720038 Hs.682987 1662418;1667976;1737443;5015861;5037552;7185938 A008R23;D10S16;D13S1005;D8S2279;RH45055 C13orf17;FLJ10704;FLJ20092 DCN1-like protein 2;DCUN1 domain-containing protein 2;OTTHUMP00000018776;chromosome 13 open reading frame 17;defective in cullin neddylation protein 1-like protein 2 APPROVED protein-coding HGNC:20328 12614 VALIDATED 734016 DDB1 damage-specific DNA binding protein 1, 127kDa The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012] 11 11 11 q12-q13 229 2582 - 61066919 61100691 - 61299447 61333212 - 1580863;6480464;6907045;7246920;7246919;8699517;8554872 22572993;22824526 10214908;10574459;10583946;10585395;10777491;11425514;11564863;11673459;12034848;12050362;12107171;12151405;12388698;12477932;12732143;12743284;12812979;12840015;14739464;14751237;15009096;15174051;15231748;15448697;15489334;15767425;15811626;15882621;16036220;16055720;16169070;16196087;16223728;16227264;16260596;16407242;16407252;16413485;16473935;16503656;16537899;16678110;16861890;16861906;16916636;16940174;16949367;16951172;16964240;17041588;17079684;17088560;17148452;17314515;17360488;17392787;17452440;17500595;17559673;17609381;17620334;17626091;17630831;17643375;17725712;17855541;18235224;18247557;18274552;18289873;18332868;18381890;18464893;18514189;18524771;18524825;18541215;18593899;18606781;18703516;18775313;18781797;18794347;18936169;19056823;19056867;19109893;19208841;19275579;19275585;19275588;19276361;19287380;19295130;19380743;19458171;19557001;19651607;19667756;19674438;19723642;19759913;19798433;19818632;20008788;20012529;20069611;20089662;20178741;20211142;20223979;20347598;20360068;20368362;20380700;20395298;20508642;20541997;20551172;20562859;20639865;20811636;20855601;20870715;20932471;20972266;21081666;21098278;21139048;21145461;21205828;21228219;21237244;21320693;21415862;21550341;21890473;21906983;21957298;21963094;21987572;21987584;21988832;22032989;22053931;22072767;22118460;22118674;22134138;22145905;22157821;22174317;22190034;22190037;22232169;22292079;22342275;22362772;22438978;22451935;22474075;22505724;22570418;22586326;22705827;22767593;22822215;22863007;22863883;22902626;22902628;22910413;22935713;22939629;22948661;22952844;23000965;23063525;23085759;23109433;23137809;23297343;23362280;23443559;23478441;23602568;23612978;23677995;23849790;24045107;24082123;24116224;24166296;24239288;24332808;24337577;24412650;24438055;24500646;24558487;24699724;24703702;24760829;24778252;24816145;24912982;25015289;25024738;25027693;25043012;25108355;25117710;3175673;7815490;8171034;8407967;8530102;8538642;8798680;9418871 1642 F5GWI0;F5GY55;F5GYG8;F5GZ34;F5GZY8;F5H0Y5;F5H198;F5H238;F5H2L3;F5H4N9;F5H581;F5H6C5;F5H775;F5H7A0;F8WF81;Q16531 AA665872;ABBA01003198;AC244206;AJ002955;AK294341;AK294493;AK299650;AK302924;AK303032;AK311476;AK312436;AL831958;AP003037;AP003108;AY960579;BC011686;BC021044;BC032080;BC050530;BC051764;CD242268;CH471076;DC334780;L40326;NG_032697;NM_001923;U18299;U32986 AAA62838;AAA88883;AAC50349;AAH11686;AAH50530;AAH51764;AAX44048;BAG35345;BAG57611;BAG61570;BAG64157;BAH11787;BAH13845;CAA05770;EAW73933;EAW73934;EAW73935;EAW73936;EAW73937;NP_001914;Q16531 Hs.290758 1665791;1673387;1673389;1708050;1770616;1848502;2110361;2115982;2152374;2184002;2191175;2191385;7186807 A002C24;D11S4371;D11S952E;DDB1;DDB1_3154.2;G19976;MARC_15735-15736:1013528885:1;MARC_21157-21158:1025280537:1;RH11844;RH78281;SHGC-81421;T03687 DDBA;UV-DDB 1;UV-DDB1;XAP-1;XAP1;XPCE;XPE;XPE-BF DDB p127 subunit;DNA damage-binding protein 1;DNA damage-binding protein a;HBV X-associated protein 1;OTTHUMP00000238316;OTTHUMP00000238318;UV-damaged DNA-binding factor;UV-damaged DNA-binding protein 1;XPE-binding factor;damage-specific DNA-binding protein 1;damage-specific dna binding protein 1;xeroderma pigmentosum group E-complementing protein APPROVED protein-coding ENSG00000167986 HGNC:2717 10952 600045 REVIEWED 1320906 DDB2 damage-specific DNA binding protein 2, 48kDa This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 p12-p11 47375719 47399996 + 47236493 47260769 + 47214465 47239218 + 1601050;1580863;6480464;6907045;7240710;7246920;8699517 22572993;8798680 10214908;10583946;10585395;10777491;11425514;11564859;11564863;11673459;11852074;11971958;12034848;12050362;12107171;12151405;12477932;12496474;12549820;12553360;12732143;12812979;12944386;14560002;14702039;14751237;15448697;15489334;15644494;15811626;15856024;15882621;16009940;16223728;16260596;16344560;16473935;16522664;16527807;16678110;16713579;16949367;16951172;16964240;17000644;17041588;17079684;17081983;17207965;17357082;17360488;17392787;17609381;17626091;17630510;17660462;17803295;17855541;17967871;18089819;18431487;18593899;18806262;18936169;19056823;19064572;19109893;19237606;19295130;19339246;19428372;19541625;19615732;19714462;19759913;20013802;20301571;20360068;20368362;20398405;20522537;20562859;20819778;21107348;21139048;21145461;21388382;21550341;21890473;21906983;21963094;21987572;22039351;22118460;22134138;22334663;22492724;22623531;22822215;22846800;22863883;22952844;23000965;23045548;23159851;23319653;23422745;23604128;23605047;23610444;23774208;23860269;24335308;24399259;24654937;24753253;24760829;24816145;8350924;8407967;8530102;8602529;9418871 1643 Q92466 AA278953;AB107037;AB107038;AB107039;AB107040;ABBA01060721;AC018410;AC090589;AK091640;AK313262;AMYH02024728;AY220533;BC000093;BC050455;BT007139;CH471064;DB053816;KF455383;KF459540;NG_009365;NM_000107;NM_001300734;U18300;XM_005252808;XM_006718161;XR_242780 AAB07897;AAH00093;AAO25655;AAP35803;ABM81645;ADQ32398;BAD12557;BAD12558;BAD12559;BAD12560;BAG36072;EAW67952;EAW67953;EAW67954;EAW67955;EAW67956;EAW67957;EAW67958;EAW67959;NP_000098;NP_001287663;Q92466;XP_005252865;XP_006718224 Hs.700338 1686110;1688590;1703978;1712116;1847258;1847360;2156001;2161956;5113517;5118486 D11S3355;D11S4389;G54107;RH12304;RH18008;RH18246;RH27353;RH27445;RH79156;SHGC-77757 DDBB;FLJ34321;UV-DDB2 DDB p48 subunit;DNA damage-binding protein 2;UV-DDB 2;UV-damaged DNA-binding protein 2;damage-specific DNA-binding protein 2;xeroderma pigmentosum group E protein APPROVED protein-coding ENSG00000134574 HGNC:2718 02886 278740;600811 REVIEWED 1346413 DDAH2 dimethylarginine dimethylaminohydrolase 2 This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33293042 33296264 - 31694817 31698039 - 31727040 31730262 - 1304476;1580863;6480464 10493931 10384126;10691782;10950934;11042152;12370443;12477932;14550280;14574404;14656967;15489334;16021519;16130169;16189514;16920729;16928504;17002794;18251679;18342305;19056867;19060904;19143821;19250061;19570459;19666123;19738201;19822957;19851445;19913121;20010544;20209122;20628086;20936901;21677405;21898353;21900206;22428028;22505724;22558392;22579530;22923027;23000965;23129820;23171931;23430976;23770786;24125425;24134589;24155659;24816145;24928011 23564 H0Y7N1;O95865;Q5SRR8;Q5SSV3;V9HW53 ABBA01038084;AF070667;AF087894;AF129756;AJ012008;AK026191;AK098671;AL662899;AL670886;AL844216;AMYH02013453;BA000025;BC001435;BX248244;CH471081;CR354443;CR759787;CR936239;FJ224290;NM_013974;XM_005248974;XM_005272783;XM_005274929;XM_005275086;XM_005275225;XM_005275361;XM_005275522 AAD18074;AAD20973;AAH01435;AAP97193;ACI45982;BAB63377;CAB46079;EAX03500;EAX03501;EAX03502;NP_039268;O95865;XP_005249031;XP_005272840;XP_005274986;XP_005275143;XP_005275282;XP_005275418;XP_005275579 Hs.247362 1660371;1694552;1778191;2141001 D6S2132;G43219;RH41827;STS-W60956 DDAH;DDAH-2;DDAHII;G6a;HEL-S-277;NG30 N(G),N(G)-dimethylarginine dimethylaminohydrolase 2;NG-dimethylarginine dimethylamino hydrolase homolog;OTTHUMP00000029307;OTTHUMP00000029308;OTTHUMP00000029310;OTTHUMP00000174406;OTTHUMP00000174488;OTTHUMP00000174489;S-phase protein;alternative name: NG30, G6a;dimethylargininase-2;dimethylarginine dimethylaminohydrolase II;epididymis secretory protein Li 277 APPROVED protein-coding ENSG00000213722 HGNC:2716 09204 604744 REVIEWED 733826 DCXR dicarbonyl/L-xylulose reductase The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010] 17 17 17 q25.3 76587448 76589264 - 79993757 79995573 - 82035881 82037697 - 632676;1580863;6480464;6907045;7240710;8554872 11882650 10385429;11752456;12136162;12477932;12665801;12680326;15103634;15489334;15906319;16616743;16847567;17434498;17576332;18079483;18086765;19027726;19056867;19337691;19442656;19615732;21139048;21832049;21890473;21906983;21988832;22042873;22505724;23661708;24816145;8125298 51181 J3KRZ4;J3KS22;J3KSZ5;J3QL34;J3QRQ2;J3QS36;J3QS45;Q7Z4W1 AA446582;AB013846;ABBA01019661;AC137723;AF113123;AF139841;AF515623;AF515624;AF515625;AK226040;AMYH02034147;AV653537;BC001470;BC003018;BG434209;BT006881;CB959852;CH471099;NG_027681;NM_001195218;NM_016286 AAF14864;AAH01470;AAH03018;AAM54026;AAN59786;AAO15991;AAP35527;AAP97273;BAB64299;EAW89732;EAW89733;NP_001182147;NP_057370;Q7Z4W1 Hs.9857 1659202;5091932 RH11648;SHGC-31983 DCR;HCR2;HCRII;KIDCR;P34H;PNTSU;SDR20C1;XR L-xylulose reductase;carbonyl reductase 2;carbonyl reductase II;diacetyl/l-xylulose reductase;human carbonyl reductase 2;kidney dicarbonyl reductase;short chain dehydrogenase/reductase family 20C, member 1;sperm surface protein P34H APPROVED protein-coding ENSG00000169738 HGNC:18985 16320 260800;608347 REVIEWED 1318429 DDHD1 DDHD domain containing 1 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN cell death (inferred); lipid catabolic process (inferred); ASSOCIATED WITH Autosomal recessive inheritance (inferred); Babinski sign (inferred); Difficulty walking (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; ethyl methanesulfonate 14 14 14 q21 33553197 33669789 - 53503458 53620046 - 53036740 53153328 - 1580863;6480464;7240710;8699517;8554872 11214970;12477932;14702039;15489334;15786464;16344560;16368877;16806233;20301682;20359546;21906983;23535732;24599962;9488669 80821 G3V2P6;Q8NEL9 AB051492;ABBA01018180;ABBA01018181;ABBA01018182;AI871726;AK058137;AK091528;AK124546;AK125372;AK125556;AL352979;AL356020;AMYH02029204;AMYH02029205;AY173947;BC018014;BC030703;BY796571;CH471061;DA212814;DQ315474;GU376468;NM_001160147;NM_001160148;NM_030637;XM_005268102;XM_005268103;XM_005268104;XM_005268105;XM_005268108 AAH18014;AAH30703;AAO49717;ABC43196;ADB80245;BAB21796;BAB71679;EAW80621;EAW80622;EAW80623;EAW80624;NP_001153619;NP_001153620;NP_085140;Q8NEL9;XP_005268159;XP_005268160;XP_005268161;XP_005268162;XP_005268165 Hs.125525 1670618;1674025;1677204;1736424;1751439;1847018;2145533;2163907;2166576;2179238;2181920;5015404;5022200;5022383 A002S11;D14S1255;D14S1295;D14S685E;ECD04345;G35573;G36181;L17705;L18426;RH66693;RH91754;SGC30420;SHGC-105255;SHGC-34023 FLJ34209;FLJ42555;PA-PLA1;PAPLA1;SPG28 DDHD domain-containing protein 1;OTTHUMP00000178997;OTTHUMP00000178998;OTTHUMP00000178999;phosphatidic acid-preferring phospholipase A1 homolog;phosphatidic acid-preferring phospholipase A1-like protein;phospholipase DDHD1;spastic paraplegia 28 (autosomal recessive) protein-coding ENSG00000100523 HGNC:19714 07482 609340;614603 VALIDATED 8662748 DDC-AS1 DDC antisense RNA 1 ASSOCIATED WITH Aromatic amino acid decarboxylase deficiency (inferred) 7 7 7 p12.2 50664356 50676057 + 50599457 50611161 + 50531759 50543463 + 8554872 14702039 100129427 ABBA01011801;AC018705;AK057400;AMYH02015694;CH236955;HG500257;NG_008742;NR_033845 Hs.680434 ncrna ENSG00000226122 HGNC:40171 VALIDATED 734177 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011] 7 7 7 p12.2 50591055 50698048 - 50526134 50633154 - 50458436 50565457 - 1358586;1600876;1580863;1300048;4139904;5128860;5129121;5128849;5129231;4139893;5128880;5129140;5129145;5129683;5129083;6480464;6907045;7240710;8554872;8699517 12555230;12703659;15935614;16204272;16403819;18457899;18937310;19167406;19342614;20232137;20505134;9853519 10391209;11750071;11992572;12116187;12200739;12477932;12690205;12718431;12864730;1357595;1395716;14991824;15028279;15079002;15318031;15322424;1540578;15489334;15532536;15879433;1612608;16338639;16740595;17184203;17200166;17533144;17938636;17948905;17967881;18163388;18270970;18567514;18586020;18814238;18821565;19041269;19056867;19058789;19086053;19156168;19184136;19221445;19336370;19455600;19465909;19589383;19684603;19703902;19800137;19874574;19913121;19944766;20092830;20379614;20424616;20468064;20535562;20602615;20628086;20691427;20732903;20734064;20832343;21083670;21479916;21541720;21797889;21982764;21988832;22143761;22397633;22571720;23064786;23083099;23276884;23321058;23512250;23781496;23953852;24163823;24216088;24411733;2590185;7567987;8510497;8889548 1644 C9JMP0;F8WER1;H7BZF7;P20711;Q53Y41 ABBA01011801;AC018705;AJ310724;AK298321;AK298392;AMYH02015693;AMYH02015694;AU310260;AW772056;AY526322;BC000485;BC008366;BM713211;BT007009;CD013934;CD013935;CD013936;CD013937;CD013938;CH236955;CH471128;CR456724;DC362073;KF511039;M76180;M84592;M88700;NG_008742;NM_000790;NM_001082971;NM_001242886;NM_001242887;NM_001242888;NM_001242889;NM_001242890;S46516;XM_005271745 AAA20894;AAA58437;AAB23675;AAD40482;AAH00485;AAH08366;AAP35655;AAS00092;AAS01995;ABW03755;BAG60574;BAG60627;CAC84071;CAG33005;EAL23898;EAW60970;EAW60971;EAW60972;NP_000781;NP_001076440;NP_001229815;NP_001229816;NP_001229817;NP_001229818;NP_001229819;P20711;XP_005271802 Hs.359698 1645966;1692040;1757663;1775843;2120893;2161083;5121556;5126529 AL033750;D7S1856;DDC;G07130;GDB:1317900;RH17737;SGC31303;SHGC-146175 AADC OTTHUMP00000159585;OTTHUMP00000209020;OTTHUMP00000209022;OTTHUMP00000209025;OTTHUMP00000209026;OTTHUMP00000220214;aromatic-L-amino-acid decarboxylase;dopa decarboxylase APPROVED protein-coding ENSG00000132437 HGNC:2719 00145 107930;608643 REVIEWED 1603951 DDI2 DNA-damage inducible 1 homolog 2 (S. cerevisiae) ENCODES a protein that exhibits aspartic-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH 17beta-estradiol; disodium selenite; hydrogen peroxide 1 1 1 p36.21 14426817 14470431 + 15943953 15995539 + 15617458 15661057 + 6480464 12477932;12838346;14702039;15146197;19193609;20379614;20639865;20972266;21139048;21890473;21906983;21963094;21987572;22053931;22505724;22863883;23000965;23824909;24816145;25015289 84301 H0YI90;H0YII4;Q5TDH0 ABBA01004702;ABBA01004703;ABBA01004704;ABBA01004705;ABBA01004706;AK057374;AK293006;AL121992;AL598343;AMYH02000363;AMYH02000364;AMYH02000365;BC006011;BN000122;CH471167;CN261722;NM_032341 AAH06011;BAF85695;CAD67552;EAW51740;EAW51741;EAW51742;EAW51743;NP_115717;Q5TDH0 Hs.718857 MGC14844;RP4-680D5.5 DDI1, DNA-damage inducible 1, homolog 2;DNA-damage inducible protein 2 (DDI2);OTTHUMP00000002491;protein DDI1 homolog 2 APPROVED protein-coding HGNC:24578 18702 VALIDATED 1346554 DDIT4 DNA-damage-inducible transcript 4 ENCODES a protein that exhibits 14-3-3 protein binding (inferred); INVOLVED IN negative regulation of TOR signaling; response to hypoxia; brain development (ortholog); PARTICIPATES IN mTOR signaling pathway; FOUND IN cytoplasm; intracellular; INTERACTS WITH (S)-colchicine; (S)-nicotine; 17beta-estradiol 10 10 10 q22.1 67317429 67319550 + 74033677 74035797 + 72273919 72276039 + 633979;737633;6480464;6484113;6907045 11884613;12477932 11076863;11230166;11256614;12453409;14646594;15146197;15180327;15489336;15592522;15632201;15988001;16169070;16196087;16258273;16341674;16381901;16713569;17005863;17307335;18029348;18781797;18796435;18953439;19114033;19127203;19210572;19221489;19557001;19996311;20166753;20354178;20374513;20473305;20639865;20972266;21123297;21139048;21258409;21266827;21414293;21460850;21540236;21798997;21890473;21900206;21906983;21909097;21963094;21987572;22001647;22053931;22505724;22527987;23000965;23193052;23528835;23717519;24338366;24728411;25101677 54541 Q9NX09 ABBA01020356;AF335324;AK000507;AL136668;AL683820;AMYH02023312;AY090097;BC000708;BC007714;BC015236;BE882343;BM843387;CH471083;CN428398;NM_019058 AAH00708;AAH07714;AAH15236;AAL38424;AAM10442;ABM81910;ABM85085;BAA91214;CAB66603;CAL37485;EAW54452;EAW54453;NP_061931;Q9NX09 Hs.744875 2109221;2139254;2139256;2148930;2155221;2163420 A001Z38;DDIT4_9797;G19827;RH44306;RH78653;SHGC-31334 Dig2;FLJ20500;REDD-1;REDD1;RP11-442H21.1;RTP801 DNA damage-inducible transcript 4 protein;HIF-1 responsive RTP801 (RTP801);HIF-1 responsive protein RTP801;OTTHUMP00000019785;protein regulated in development and DNA damage response 1 protein-coding ENSG00000168209 HGNC:24944 09662 607729 VALIDATED 1604424 DDI1 DNA-damage inducible 1 homolog 1 (S. cerevisiae) ENCODES a protein that exhibits aspartic-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); paracetamol (ortholog) 11 11 11 q22.3 101068396 101071010 + 103907308 103909922 + 104036580 104039194 + 6480464;8554872 12477932;14702039;15060002;16189514;17207965;19913121;20628086 414301 Q8WTU0 ABBA01039921;AF429971;AK093336;AMYH02025499;AP003043;BC021172;BC021710;BC022017;BC022018;CH471065;DB449163;DB513526;HC006902;NM_001001711 AAH21172;AAH21710;AAH22017;AAH22018;AAP97303;ADQ31669;BAC04135;CBH19256;EAW67047;NP_001001711;Q8WTU0 Hs.591941 1677502 RH92113 FLJ36017 DDI1, DNA-damage inducible 1, homolog 1;DNA-damage inducible protein 1;OTTHUMP00000231644;protein DDI1 homolog 1 APPROVED protein-coding ENSG00000170967 HGNC:18961 13128 VALIDATED 1318138 DDHD2 DDHD domain containing 2 This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 8 8 8 p11.23 37041566 37073339 + 38088861 38120351 + 38231343 38262833 + 6480464;8699517;7240710;8554872 11788596;12477932;14702039;15623529;16344560;18029348;18757432;19330026;19632984;20301682;20932832;20940404;21139048;21832049;21890473;22922100;23000965;23176823;23378048;23486545;24123876;24337409;9872452 23259 B3KPM6;E9PIF5;E9PK57;E9PKE6;E9PM60;E9PP45;E9PPH8;E9PPN2;E9PQY9;H0YE64;H0YF17;H0YF30;O94830 AB018268;ABBA01023539;ABBA01023540;ABBA01023541;ABBA01023542;AC084024;AC087362;AK023218;AK026961;AK056525;AK094951;AK125904;AK127040;AK299875;AMYH02017827;BC010504;BI789108;BM510691;CH471080;DA333302;DA412370;NG_033875;NM_001164232;NM_001164234;NM_015214;XM_005273454;XM_005273455;XM_005273456;XM_005273457;XR_247123 AAH10504;BAA34445;BAB14470;BAG51738;BAG54264;BAG54427;BAG61725;EAW63323;EAW63324;NP_001157704;NP_001157706;NP_056029;O94830;XP_005273511;XP_005273512;XP_005273513;XP_005273514 Hs.434966 1340556;1652783;1677909;5015619;5015861;5020414;5022578;5022651;5037552;5096290;5109281;7185938 AFM265zf9;D10S16;D11S2921;D11S3114;D1S1423;D1S1425;D8S2279;D8S536;L17688;RH15846;WI-15923 KIAA0725;SAMWD1;SPG54;iPLA(1)gamma DDHD domain-containing protein 2;OTTHUMP00000225879;OTTHUMP00000225880;OTTHUMP00000228499;PA-PLA1 like;SAM, WWE and DDHD domain containing 1;SAM, WWE and DDHD domain-containing protein 1;intracellular phospholipase A1gamma;phospholipase DDHD2;sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1 protein-coding ENSG00000085788 HGNC:29106 16788 615003;615033 REVIEWED 1319052 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008] 1 1 1 p36.1 19304032 19313806 - 20978260 20988037 - 20651767 20661544 - 727247;1580863;6480464;6907045;8699517;7240710;8554872 9367678 10080935;12477932;15289604;15342556;15489334;15835887;16196087;16712791;17314412;17353931;18187620;19167051;19343046;19615732;19738201;19946888;19955485;20301507;20490454;20562859;21081666;21139048;21857022;21890473;21900206;21903422;21906983;21988832;22053931;22266900;22268729;22304920;22305527;22797925;22939629;23000965;23125841;23464991;24337577;24457600;24885147;7625827;7788527;9642163 1650 P39656;U3KQ84 AB062391;ABBA01059790;AK296041;AK297009;AK315633;AL391357;AMYH02000432;AMYH02000433;BC002594;BP233191;CB137813;CB988524;CH471134;D29643;D89060;NG_032064;NM_005216 AAH02594;ABM82853;ABM86040;BAA06126;BAA23670;BAB93478;BAG38001;BAG58805;BAG59544;EAW94936;EAW94937;EAW94938;EAW94939;EAW94940;NP_005207;P39656 Hs.523145 1685582;2150154;2179622;2189475;5022578 D1S1423;D1S3535;MARC_7133-7134:992008247:1;RH25339;RH68262 AGE-R1;AGER1;CDG1R;KIAA0115;MGC2191;OK/SW-cl.45;OKSWcl45;OST;OST48;WBP1 DDOST 48 kDa subunit;OTTHUMP00000002882;advanced glycation endproduct receptor 1;dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit;dolichyl-diphosphooligosaccharide-protein glycosyltransferase;dolichyl-diphosphooligosaccharide-protein glycotransferase;oligosaccharyl transferase 48 kDa subunit;oligosaccharyltransferase 48 kDa subunit;oligosaccharyltransferase subunit 48 APPROVED protein-coding ENSG00000244038 HGNC:2728 03728 602202;614507 REVIEWED 735912 DDR1 discoidin domain receptor tyrosine kinase 1 Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] 6 6 6 p21.3 32449961 32466039 + 30850694 30867933 + 30880909 30900156 + 1580863;1642301;6480464;8554872 16497176 10681566;10783152;11126911;11133186;11344127;11472367;11606478;12065315;12477932;12935821;14574404;14764702;15111304;15136580;15146197;15213330;15240533;15489334;16169070;16337946;16440311;16502470;16702430;16774916;16912190;17001518;17027969;17101694;17299390;17440435;17440927;17704737;17721511;17970783;17982627;18023033;18065762;18190796;18270328;18362184;18593464;18836851;19199708;19262089;19401332;19752756;19837266;19851445;20007060;20041166;20093046;20182441;20219323;20353877;20372823;20380825;20487506;20587610;20596615;20799954;20848476;20884741;20920467;21044884;21139048;21170030;21335558;21356365;21398698;21461859;21551363;21900206;21906983;21963094;22057045;22077590;22223527;22374871;22380734;22421314;22507556;22752569;22895534;22939624;23284937;23307244;23335507;23382212;23455636;23519472;23530036;23761027;23810922;24018687;24136166;24509848;24671415;24768818;7774938;7789998;7834423;7848919;8139570;8226977;8302582;8390675;8622863;8682498;8796349;8977099;9396043;9492013;9659899;9659900 780 A2ABL0;A2ABL2;A2ABM8;B7Z3A2;D6R9C4;D6RAJ3;D6RB35;D6RB82;D6RBU7;D6RGW5;E7EN94;E7ENJ2;E7EPH4;E7EPN2;E7EQ23;E7EQ30;E7ERI6;E7ERN0;E7ES06;E7ESR9;E7ETI3;E7ETX3;E7EUD5;E7EUP7;E7EVT1;E7EVW6;E7EX99;E7EXB0;H0Y717;H0Y9F4;H0YAH6;Q08345;Q6ZNR9;Q96T61;Q96T62 AB088102;AB103608;AB202100;AB210021;ABBA01038067;AF353182;AF353183;AK130776;AK291621;AK294793;AK295643;AL662854;AL662870;AL773541;AL773589;AL805917;AMYH02013438;BA000025;BC008716;BC013400;BC070070;BI193181;BM875592;BX927194;CH471081;CN362335;CR753093;CR759747;CR936875;CR936908;CR942271;DA461082;DC369107;EU826613;EU826614;L11315;L20817;L57508;NG_029066;NM_001202521;NM_001202522;NM_001202523;NM_001297652;NM_001297653;NM_001297654;NM_001954;NM_013993;NM_013994;U48705;X74979;X98208;X99031;XM_005249385;XM_005249386;XM_005249387;XM_005249389;XM_005272873;XM_005272874;XM_005272875;XM_005272877;XM_005275027;XM_005275028;XM_005275030;XM_005275031;XM_005275162;XM_005275163;XM_005275164;XM_005275166;XM_005275457;XM_005275458;XM_005275459;XM_005275461;XM_006715185;XM_006715186;XM_006715187;XM_006715188;XM_006715189;XM_006715190;XM_006725501;XM_006725502;XM_006725503;XM_006725504;XM_006725505;XM_006725506;XM_006725714;XM_006725715;XM_006725716;XM_006725717;XM_006725718;XM_006725719;XM_006725720;XM_006725721;XM_006725722;XM_006725827;XM_006725828;XM_006725829;XM_006725830;XM_006725831;XM_006725832;XM_006726017;XM_006726018;XM_006726019;XM_006726020;XM_006726021;XM_006726022;XR_427836;XR_430858;XR_430938;XR_430974;XR_431015;Z29093 AAA02866;AAA18019;AAB05208;AAC50917;AAH08716;AAH13400;AAH70070;AAK48842;AAK48843;ACF47649;ACF47650;BAB63318;BAC54935;BAC85426;BAE06103;BAE78621;BAF31270;BAF84310;BAH11886;BAH12138;CAA52915;CAA66871;CAA82335;EAX03335;EAX03336;EAX03337;EAX03338;EAX03339;EAX03340;EAX03341;EAX03342;EAX03343;EAX03344;EAX03345;EAX03346;NP_001189450;NP_001189451;NP_001189452;NP_001284581;NP_001284582;NP_001284583;NP_001945;NP_054699;NP_054700;Q08345;XP_005249442;XP_005249443;XP_005249444;XP_005249446;XP_005272930;XP_005272931;XP_005272932;XP_005272934;XP_005275084;XP_005275085;XP_005275087;XP_005275088;XP_005275219;XP_005275220;XP_005275221;XP_005275223;XP_005275514;XP_005275515;XP_005275516;XP_005275518;XP_006715248;XP_006715249;XP_006715250;XP_006715251;XP_006715252;XP_006715253;XP_006725564;XP_006725565;XP_006725566;XP_006725567;XP_006725568;XP_006725569;XP_006725777;XP_006725778;XP_006725779;XP_006725780;XP_006725781;XP_006725782;XP_006725783;XP_006725784;XP_006725785;XP_006725890;XP_006725891;XP_006725892;XP_006725893;XP_006725894;XP_006725895;XP_006726080;XP_006726081;XP_006726082;XP_006726083;XP_006726084;XP_006726085 Hs.631988 1653921;1660076;1745103;1790827;2116470;2127915;2161297;2180341;2180343;2189609;2220212 C4_2_7;D6S1851;D6S2203;D6S2699;D6S2825;GDB:594103;RH11020;RH18132;RH46779;RH70253;WI-18751 CAK;CD167;DDR;EDDR1;HGK2;MCK10;NEP;NTRK4;PTK3;PTK3A;RTK6;TRKE CD167 antigen-like family member A;OTTHUMP00000029343;OTTHUMP00000029344;OTTHUMP00000029345;OTTHUMP00000029346;OTTHUMP00000029347;OTTHUMP00000164863;OTTHUMP00000164867;OTTHUMP00000222080;PTK3A protein tyrosine kinase 3A;cell adhesion kinase;epithelial discoidin domain-containing receptor 1;mammary carcinoma kinase 10;neuroepithelial tyrosine kinase;neurotrophic tyrosine kinase, receptor, type 4;protein-tyrosine kinase RTK-6;tyrosine kinase DDR;tyrosine-protein kinase CAK APPROVED protein-coding ENSG00000204580 HGNC:2730 02678 600408 REVIEWED 1602966 DDIAS DNA damage-induced apoptosis suppressor INVOLVED IN apoptotic process (inferred); cellular response to cytokine stimulus (inferred); cellular response to DNA damage stimulus (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 11 11 11 q14.1 79922489 79955453 + 82611017 82645701 + 82901695 82934659 + 6480464 12477932;14702039;16344560;17515607;23251661;23383273;24214091 220042 B4DMA1;B4DS54;E9PLJ5;E9PM93;E9PMA7;E9PN94;E9PQP9;Q8IXT1 AA477171;ABBA01017369;AK023998;AK058145;AK096157;AK292399;AK297366;AK299581;AMYH02025190;AP001646;BC039268;CH471076;DB023053;DB454086;NM_145018;XM_006718467 AAH39268;ACE86786;ACE87472;BAB14764;BAB71685;BAF85088;BAG59813;BAG61516;EAW75077;NP_659455;Q8IXT1;XP_006718530 Hs.165607 5024761 RH36905 C11orf82;FLJ13936;FLJ25416;FLJ38838 OTTHUMP00000234447;OTTHUMP00000234449;OTTHUMP00000234450;OTTHUMP00000234451;OTTHUMP00000234453;nitric oxide-inducible gene protein;noxin APPROVED protein-coding ENSG00000165490 HGNC:26351 08062 VALIDATED 1345220 DDN dendrin ASSOCIATED WITH Melanoma (inferred); FOUND IN cell projection; cytoplasm; INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate; paracetamol 12 12 12 q13.12 48183719 48187874 - 49388933 49393088 - 48995150 48999305 - 6480464;8554872 12477932;12559952;16464232;16751601;18356187;19913121;20628086;21606645;23143340;23667252;8915891;9872452 23109 O94850 AB018292;ABBA01031498;AC011603;AMYH02026430;BC039264;BC136398;BC136399;CH471111;NM_015086 AAI36399;AAI36400;BAA34469;EAW58031;NP_055901;O94850 Hs.591044 1646160;2218468 A008J41;DDN_4685 KIAA0749 OTTHUMP00000209341 protein-coding ENSG00000181418 HGNC:24458 10294 610588 VALIDATED 1625820 DDTL D-dopachrome tautomerase-like ENCODES a protein that exhibits lyase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3',5'-cyclic AMP (ortholog) 22 22 22 q11.23 8104926 8115326 + 24308652 24314748 + 23966838 23972559 + 6480464 10591208;14702039;16344560;19913121;20628086;21139048;21890473;21963094;22001757;22939629;24816145;9729470 100037417 A6NHG4;B4DJQ7;B7Z522 ABBA01055124;AC253536;AI686044;AK296110;AK296189;AK298326;AP000350;AP000351;DB157727;HG512083;NM_001084393;XM_005261299;XM_006725405 A6NHG4;BAG58859;BAG58919;BAH12758;NP_001077862;XP_005261356;XP_006725468 Hs.744172 1665532;1680669;1759939;2175253 D22S1558;RH69708;SHGC-170343;STS-U49785 KB-226F1.2 D-dopachrome decarboxylase-like protein;D-dopachrome tautomerase-like protein;OTTHUMP00000198530 protein-coding ENSG00000099974 HGNC:33446 VALIDATED 1312254 DDR2 discoidin domain receptor tyrosine kinase 2 Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation, and metabolism. In several cases the biochemical mechanism by which RTKs transduce signals across the membrane has been shown to be ligand induced receptor oligomerization and subsequent intracellular phosphorylation. This autophosphorylation leads to phosphorylation of cytosolic targets as well as association with other molecules, which are involved in pleiotropic effects of signal transduction. RTKs have a tripartite structure with extracellular, transmembrane, and cytoplasmic regions. This gene encodes a member of a novel subclass of RTKs and contains a distinct extracellular region encompassing a factor VIII-like domain. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 1 1 1 q23.3 135705279 135854329 + 162602228 162756409 + 162631265 162786619 + 1580863;6480464;7240710;8554872;8699517 11133186;11884411;12477932;12935821;14702039;1486804;15111304;15544808;1567394;16186104;16186108;16626936;16806867;16967187;17299390;17703188;17786355;17968949;18201965;19110212;19322201;19415460;19536175;20223752;20379614;20564243;20628624;21139048;21335558;21477649;21701781;21963094;22328973;22832484;22939624;23131558;23233663;23307244;23401445;23546533;23644467;23822953;24018687;24293323;24631539;24725993;24787381;7774938;8125298;8247548;8889549;9659899 4921 H0Y570;Q16832;Q5T241;Q5T244;Q5T245 AA148473;ABBA01047303;AF268386;AK058006;AK092374;AK093865;AK093908;AK095975;AK225063;AK225196;AK314388;AL445197;AL596325;AMYH02002043;AY423733;AY871271;BC052998;BX537651;BX640899;CF994640;CH471067;NG_016290;NM_001014796;NM_006182;X74764;XM_005245221;XM_006711344;XM_006711345 AAH52998;AAS00496;AAX11427;ACE86808;ACE87495;BAG37013;BAG53183;CAA52777;CAE45946;EAW90713;EAW90714;NP_001014796;NP_006173;Q16832;XP_005245278;XP_006711407;XP_006711408 Hs.275757;Hs.593833 1665331;1667555;1677700;1682445;1791506;2134239;5094046 D1S2420;D1S2434;G34973;L18077;PMC112259P1;RH65150;RH66899 MIG20a;NTRKR3;TKT;TYRO10 CD167 antigen-like family member B;OTTHUMP00000032332;OTTHUMP00000038368;cell migration-inducing protein 20;discoidin domain receptor 2;discoidin domain receptor family, member 2;discoidin domain-containing receptor 2;discoidin domain-containing receptor tyrosine kinase 2;hydroxyaryl-protein kinase;migration-inducing gene 16 protein;neurotrophic tyrosine kinase receptor related 3;neurotrophic tyrosine kinase, receptor-related 3;receptor protein-tyrosine kinase TKT;tyrosine-protein kinase TYRO10;tyrosylprotein kinase APPROVED protein-coding ENSG00000162733 HGNC:2731 01868 191311;271665 REVIEWED 1314668 DDO D-aspartate oxidase The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q21 111460002 111483375 - 110709545 110736839 - 110392180 110415550 - 1580863;6480464;6907045;8554872 12209855;12477932;14574404;15489334;18976975;19125110;1991137;20178365;20201926;20564561;20603179;21608;21906983;21988832;8187937;9148742;9163533;9820813 8528 F2Z2E0;Q99489 AB496420;ABBA01026119;AK293029;AL050350;AMYH02014286;AX786391;AX786392;BC032786;CH471051;D89858;NM_003649;NM_004032 AAH32786;BAA14031;BAF85718;BAI44653;CAE11960;CAE11961;EAW48316;EAW48317;EAW48318;NP_003640;NP_004023;Q99489 Hs.591348 1645258;1769379;2107997;2133607 A006U18;DDO_8822;RH12570;RH37573 DDO-1;DDO-2;FLJ45203 D-aspartate oxidase, DDO;DASOX;OTTHUMP00000017001;OTTHUMP00000017002;OTTHUMP00000017003;aspartic oxidase APPROVED protein-coding ENSG00000203797 HGNC:2727 00498 124450 REVIEWED 69165 DDIT3 DNA-damage-inducible transcript 3 This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010] 12 12 12 q13.1-q13.2 57566204 57570133 - 57910371 57914300 - 57516588 57520517 - 1599729;1599731;1599736;1599726;1599728;1599745;1580863;6480464;6907045;7240710;8699517;8554872 1283316;15476864;15921666;16400006;16936110;8051100 10523647;10713066;11691921;11805088;11948400;12006103;12069855;12082616;12097650;12138118;12168790;12297725;12477932;12618752;12706815;12805554;12876286;12939601;1339368;14630918;14635187;14667815;14669326;14685163;15001576;15053923;15271854;15277326;15286712;15308577;15316935;15322075;15327748;1547942;15489334;15588942;15659384;15688424;15775988;15870698;15917187;16005964;16098044;16189514;16434966;16463383;16511829;16651630;16942595;16958678;17171638;17273769;17276738;17468515;17513780;17601350;17616685;17620318;17647282;17652152;17686866;17709599;17872950;17968315;18278507;18330356;18394432;18396163;18534616;18541659;18593935;18679584;18680108;18772138;18850010;18940792;18977241;19037087;19061639;19107326;19116245;19470730;19558691;19672300;19722195;19723703;19733664;19744850;19816510;19855386;1990262;19934253;20017906;20032083;20116099;20122151;20211142;20398657;20424162;20430872;20492726;20554776;20562859;20829347;20876114;20889551;21044953;21179554;21189163;21285359;21365646;21402790;21471847;21479362;21693764;21697087;21697995;21700680;21732477;21741997;21801305;21873270;21966512;21988832;22094256;22096849;22146569;22157935;22242125;22246806;22261448;22289049;22496840;22570737;22609407;22669460;22691366;22753273;22800509;22815481;22995304;23053497;23065795;23213463;23339468;23412101;23546223;23661758;2372777;23749468;23836491;24060278;24078627;24250222;24270407;24285420;24287694;24367269;24367283;24565834;24738922;7503811;8510758;8622660;8637704;8650547;8662954;8889549 1649 F8W133;P35638;Q53YD1 AA054097;AA476561;ABBA01026699;AC022506;AI658803;AK316581;AMYH02026586;AV729744;AY461580;AY880949;BC003637;BC064556;BC107859;BM464290;BT006691;BU664077;CH471054;CN482428;NG_027674;NM_001195053;NM_001195054;NM_001195055;NM_001195056;NM_001195057;NM_004083;S40706 AAB22646;AAH03637;AAP35337;AAW56077;ACE86494;ACE87175;BAG38169;EAW97021;EAW97022;EAW97023;NP_001181982;NP_001181983;NP_001181984;NP_001181985;NP_001181986;NP_004074;P35638 Hs.505777 1655432;1744241;1769907;1792408;2183069;5016478;5020948;5022578;5109281 D12S1943;D1S1423;D1S1425;G35510;GDB:434012;GDB:438520;PMC150726P8;RH17412;RH17902 C/EBP zeta;CEBPZ;CHOP;CHOP-10;CHOP10;DDIT-3;GADD153;MGC4154 C/EBP homologous protein;CCAAT/enhancer-binding protein homologous protein;DNA damage-inducible transcript 3 protein;OTTHUMP00000242752;OTTHUMP00000242753;OTTHUMP00000242754;OTTHUMP00000242755;OTTHUMP00000242756;c/EBP-homologous protein 10;dna-damage inducible transcript 3;growth arrest and DNA damage-inducible protein GADD153;growth arrest- and DNA damage-inducible APPROVED protein-coding ENSG00000175197 HGNC:2726 00529 126337;613488 REVIEWED 7174742 DDTP1 D-dopachrome tautomerase pseudogene 1 3 38556936 38557321 - 101060160 XM_003959970;XM_003960322;XM_003960923 XP_003960019;XP_003960371;XP_003960972 D-dopachrome decarboxylase-like protein-coding HGNC:44546 1342784 DDIT4L DNA-damage-inducible transcript 4-like INVOLVED IN negative regulation of signal transduction (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH all-trans-retinoic acid; curcumin; disodium selenite 4 4 4 q24 98405052 98409638 - 101106267 101111939 - 100185110 100190782 - 737633;6480464 12477932 12453409;14702039;15308555;15632201;16189514;16344560;17207965;19268525;19491193;19616115 115265 D6RD49;D6RJ99;Q96D03 ABBA01063677;ABBA01063678;AK094236;AK312926;AL832277;AMYH02009804;AP001961;AX379591;BC013592;CH471057;DB208869;NM_145244;XM_005262721 AAH13592;ADQ32412;BAC04315;BAG35770;CAD28403;CAI46176;EAX06119;NP_660287;Q96D03;XP_005262778 Hs.480378 1664557;1684292;1856464;1856797;5024910 D4S2493E;Ddit4l;SHGC-24757;SHGC-50253;SHGC-8633 REDD-2;REDD2;Rtp801L DNA damage-inducible transcript 4-like protein;HIF-1 responsive protein RTP801-like;OTTHUMP00000219578;OTTHUMP00000219579;OTTHUMP00000219580;homolog of mouse SMHS1;regulated in development and DNA damage response 2 protein-coding ENSG00000145358 HGNC:30555 09663 607730 VALIDATED 1353002 DDT D-dopachrome tautomerase D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008] 22 22 22 q11.23 8114132 8122585 - 24313554 24322019 - 23971365 23979828 - 1580863;6480464 10079069;10591208;11997397;12477932;12665801;12823441;1286669;15461802;15489334;17353931;18684922;19056867;19913121;20628086;21071513;21817065;21890473;21963094;22001757;22428043;22951300;24163370;24356968;24816145;8267597;9480844;9716662;9729470 1652 B5MC82;H7C342;J3KQ18;P30046;Q53Y51 AC253536;AF012434;AF058293;AK292044;AP000351;BC005971;BC015508;BT006970;CA414359;CH471095;CR456431;NM_001084392;NM_001355;U49785;U84143;XM_006725406;Y11151 AAB41503;AAB48546;AAC13717;AAC77468;AAH05971;AAH15508;AAP35616;ABM82497;ABM85691;BAF84733;CAA72037;CAG30317;CAK54422;CAK54721;EAW59622;EAW59623;NP_001077861;NP_001346;P30046;XP_006725469 Hs.656723 1665532;1680669;1759939;2175253 D22S1558;RH69708;SHGC-170343;STS-U49785 DDCT;FLJ78842 D-dopachrome decarboxylase;OTTHUMP00000198527;OTTHUMP00000198528;OTTHUMP00000198529;phenylpyruvate tautomerase II APPROVED protein-coding ENSG00000099977 HGNC:2732 04126 602750 REVIEWED 1351249 DDU dermo-distortive urticaria ASSOCIATED WITH Familial dermographism (inferred) 7240710 6945804;7294069 29764 HGNC:2733 125630 7204988 DDX10P2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 pseudogene 2 9 9 9 q21.32 55271151 55274027 - 84700669 84703745 - 82085654 82088868 - 401533 ABBA01033990;AL158047;AMYH02021102;NG_021626 pseudo HGNC:44961 INFERRED 6770605 DDX11-AS1 DDX11 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 12 12 31173697 31226781 - 31020763 31073847 - 8554872 14702039 100506660 ABBA01068091;AC008013;AI927673;AK096360;AMYH02026271;HG504653;KF455638;LK938706;NR_038927 Hs.586774 1338078;1667061;1733614;1754299;1759617 D12S1432;D12S1648;D12S921;SHGC-132314;SHGC-150876 RP11-551L14.5 APPROVED ncrna ENSG00000245614 HGNC:44176 VALIDATED 3231842 DDX11L1 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 1 1 p36.33 11874 14409 + 11874 14409 + 12477932;19476624 100287102 AL627309;AM992871;BC032353;BC070227;NR_046018 CAQ52933 Hs.618434;Hs.714157 1712126;5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742;G54113 APPROVED pseudo ENSG00000223972 HGNC:37102 VALIDATED 1320614 DDRGK1 DDRGK domain containing 1 FOUND IN endoplasmic reticulum; INTERACTS WITH disodium selenite; genistein; potassium dichromate 20 20 20 p13 3232967 3247257 - 3171012 3185295 - 3190366 3204649 - 6480464 11780052;12477932;15489334;17207965;17353931;20018847;20036718;20228063;20637204;21139048;21494687;21659334;21832049;21890473;22939629;23675531;24250222 65992 Q96HY6 ABBA01053815;AF086090;AK310809;AL109976;AL121891;AMYH02036595;BC000643;BC007957;BC011851;CH471133;NM_023935 AAH00643;AAH07957;AAH11851;ADQ32742;EAX10543;EAX10544;NP_076424;Q96HY6 Hs.471975 1336810;1759033;2127554;2159445;7187429 D20S181;RH41819;SHGC-151032;STS-W72684 C20orf116;MGC2592;UFBP1;dJ1187M17.3 DDRGK domain-containing protein 1;Dashurin;OTTHUMP00000030087;OTTHUMP00000030088;UFM1-binding protein 1 containing a PCI domain protein-coding ENSG00000198171 HGNC:16110 12741 PROVISIONAL 9586234 DDX11L11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 11 p13.3 16344560;19476624 100887824 AM992867;AM992877;AM992881;DA948568 CAQ52939;CAQ52943;CAQ52945;CAQ52946 Hs.592089;Hs.644359;Hs.712940 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 11;DEAD/H box polypeptide 11 like 11 protein-coding HGNC:37110 7204936 DDX10P1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 pseudogene 1 10 10 10 30973263 30975385 - 31207937 31210059 - 30919008 30921130 - 100421371 ABBA01033409;AL359532;AMYH02022566;NG_025423 pseudo HGNC:44960 INFERRED 1353019 DDX11L10 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 10 16 16 p13.3 61555 64090 + 11555 14090 + 19476624 100287029 AM992876;AMYH02031177;NR_045117;Z84812 CAQ52938 Hs.592089 2046578;2046582;5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742;REN94411;REN94414 DDX11L1;DDX11P DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 10;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 pseudogene;DEAD/H box polypeptide 11 like 10 APPROVED pseudo ENSG00000233614 HGNC:14125 PROVISIONAL 2859132 DDX11L3 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 3 15 q29 102516761 102519296 - 19476624 100302657 AM992865;AM992872 CAQ52928;CAQ52934 Hs.714157 5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 3;DEAD/H box polypeptide 11 like 3 APPROVED pseudo HGNC:37104 2816623 DDX11L16 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 16 X;Y X;Y q28; Yq12 155255326 155257848 - 57212181 57214703 - 10655549;12477932;19476624 727856 AJ271736;AM992882;AMYH02040905;NR_110561 CAQ52944 Hs.740212 5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742 MGC75272 APPROVED pseudo HGNC:37115 VALIDATED 3129492 DDX11L5 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 9 9 p24.3 11987 14525 + 11987 14525 + 19476624 100287596 AL928970;AM992874;AMYH02019022;NR_051986 CAQ52936 Hs.719844 1687457;5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742;RH26395 APPROVED pseudo HGNC:37106 VALIDATED 2859130 DDX11L4 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 4 1 p25.3 12613 14361 + 19476624 100337622 AM992866;AM992873 CAQ52929;CAQ52935 Hs.714157 1712126;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03742;G54113 APPROVED pseudo HGNC:37105 3003937 DDX11L8 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 8 INTERACTS WITH paracetamol (ortholog); potassium dichromate (ortholog) 12 12 91220 93430 - 12310 14520 + 6480464 19476624;22797925;24816145 100302090 AC215219;AMYH02025846;NG_029416 5109822 DXS7062 APPROVED pseudo HGNC:37101 INFERRED 2902394 DDX11L9 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 15 15 q26.3 102516761 102519296 - 101976558 101979093 - 12477932;19476624 100288486 AC140725;AM992875;AM992880;AMYH02031175;NR_034090;NR_051985 CAQ52937;CAQ52942 Hs.644359 1712126;2046580;5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742;G54113;REN94412 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 9;DEAD/H box polypeptide 11 like 9 APPROVED pseudo ENSG00000248472 HGNC:37109 VALIDATED 3423179 DDX11L2 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2 2 2 q13 114356605 114361294 - 113599028 113603717 - 12477932;14702039;16344560;19476624 84771 AC245097;AI468499;AK057285;AK093685;AK123946;AL078621;AM992870;BC005070;NR_024004;NR_024005 CAQ52932 Hs.712940 5014301;5020533;5038242;5096865;5096883;5108834;5108836;5109822;5126616;7183835 D0S2577;D0S2578;D2S2623;DXS7062;ECD03348;ECD03742;REN94415;REN94416;stSG608802 FLJ41952;FLJ44010;MGC13005 APPROVED pseudo HGNC:37103 VALIDATED 737232 DDX1 DEAD (Asp-Glu-Ala-Asp) box helicase 1 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. [provided by RefSeq, Jul 2008] 2 2 2 p24 15649490 15688945 + 15731745 15771235 + 15591621 15631111 + 1580863;6480464 10319407;10834319;11598190;11790298;12183465;12477932;15161933;15489334;1552844;15567440;15588285;15635413;15892970;16159877;16230076;16335966;16354571;17028906;17220478;17314511;17380053;17380054;17611020;17620599;17661632;18029348;18335541;18508616;18710941;18809582;19058135;19135240;19149558;19240061;19398953;19738201;19946888;20499159;20573827;21081666;21139048;21145461;21252943;21319273;21358275;21697133;21763499;21832049;21890473;21907836;21946350;21963094;21988832;22051512;22053931;22079093;22174317;22446626;22479191;22544364;22623428;22751105;22863883;22939629;23000965;23125841;23284291;23608157;23703321;23797032;23862649;24023901;24130170;24332808;24390425;24550385;24654937;24657165;24816145;24870230;25027693;7689221;8135819 1653 A3RJH1;C9JLP0;Q92499 AB593031;AB593032;AB593033;AB593034;ABBA01015680;AC008278;AK297432;AK298212;AK298426;AK313933;AMYH02003312;AMYH02003313;BC012132;BC012739;BC053673;CH471053;DC360930;EF418570;EF418571;NM_004939;X70649 AAH12132;AAH53673;ABN70940;ABN70941;BAG36652;BAG59860;BAG60482;BAG60648;BAJ83985;BAJ83986;BAJ83987;BAJ83988;CAA49992;EAX00894;EAX00895;EAX00896;EAX00897;EAX00898;NP_004930;Q92499 Hs.440599 1645101;1854623;1854625;2108003 A006F40;DDX1_8292;G20773;WI-7414 DBP-RB;UKVH5d ATP-dependent RNA helicase DDX1;DEAD (Asp-Glu-Ala-Asp) box polypeptide 1;DEAD box polypeptide 1;DEAD box protein 1;DEAD box protein retinoblastoma;DEAD box-1;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1;OTTHUMP00000115711 APPROVED protein-coding ENSG00000079785 HGNC:2734 03158 601257 REVIEWED 1315426 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 12 12 12 p11 1 1791 + 31226779 31257733 + 31073845 31104799 + 6480464;7240710;8554872;8699517 10648783;12477932;14702039;15489334;15520935;16169070;17105772;17189189;18499658;19884766;20124417;21139048;21489590;21854770;21890473;21906983;21963094;21987572;22102414;22505724;22678773;23033317;23116066;24250222;24487782;24816145;8530100;8798685;8833153;9013641 1663 B4DMS8;C9K0E8;F5GXJ8;F5GXL6;F5GYY1;F5H235;F5H2V9;F6WZM0;H0YFY8;H0YGL4;H0YGX9;Q2NKM7;Q96FC9;R4GNE1 ABBA01068091;ABBA01068092;AC008013;AK021703;AK297607;AK303139;AMYH02026271;BC001591;BC011264;BC012834;BC047317;BC050069;BC050522;BC111733;BC148224;CH471116;NG_023352;NM_001257144;NM_001257145;NM_004399;NM_030653;NM_152438;U33833;U35241;U75967;U75968;U75969;X99583;XM_005253331;XM_005253333;XM_006719041;XM_006719042;XM_006719043;XM_006719044;XM_006719045;XM_006719046;XM_006719047;XM_006719048;XM_006719049;XM_006719050;XM_006719051;XM_006719052;XM_006719053;XR_429031 AAA99060;AAB06962;AAB18749;AAB18750;AAB18751;AAH50069;AAH50522;AAI11734;BAG59990;BAG64243;CAA67895;EAW88576;EAW88577;EAW88578;EAW88579;EAW88580;EAW88581;EAW88582;EAW88583;NP_001244073;NP_001244074;NP_004390;NP_085911;NP_689651;Q96FC9;XP_005253388;XP_005253390;XP_006719104;XP_006719105;XP_006719106;XP_006719107;XP_006719108;XP_006719109;XP_006719110;XP_006719111;XP_006719112;XP_006719113;XP_006719114;XP_006719115;XP_006719116 Hs.443960 5096865;5124928;5124962 ECD03348;RH65252;RH80562 CHL1;CHLR1;KRG-2;KRG2;MGC133249;MGC9335;WABS;hCHLR1 CHL1-like helicase homolog;CHL1-related helicase gene-1;CHL1-related protein 1;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae);DEAD/H box protein 11;OTTHUMP00000238778;OTTHUMP00000238780;OTTHUMP00000238784;OTTHUMP00000238785;keratinocyte growth factor-regulated gene 2 protein;probable ATP-dependent RNA helicase DDX11 APPROVED protein-coding ENSG00000013573 HGNC:2736 03095 601150;613398 REVIEWED 1319083 DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008] 11 11 11 q22-q23 105690743 105966511 + 108535816 108811650 + 108665025 108940930 + 1580863;6480464;8554872 10222653;10655059;10830185;11790298;12477932;15380516;15489334;15635413;17081983;18029348;18187620;19332556;19615732;21139048;21145461;21832049;21890473;21906983;22360420;22586326;24250222;24816145;8660968;9166830;9199348 1662 E9PIF2;Q13206 AB001343;AB040537;AB209884;ABBA01039859;ABBA01039860;ABBA01039861;ABBA01039862;ABBA01039863;AK296752;AK315216;AMYH02025554;AMYH02025555;AMYH02025556;AMYH02025557;AP002453;AP003027;AP003387;BC049217;BC064921;BC091521;BC093654;BC093656;CH471065;DC401755;NM_004398;U28042 AAC50823;AAH49217;AAH91521;AAH93654;AAH93656;BAA20386;BAB18536;BAD93121;BAG37650;BAG59335;EAW67122;EAW67123;EAW67124;NP_004389;Q13206 Hs.591931 1679752;1686616;1732227;1734064;1738109;1782320;1790253;2107999;5014051;5016478;5022200;5022463;5022578;5037552 D11S1818;D11S2180;D11S3735;D1S1423;D3S1673;D8S2278;D8S2279;DDX10_8293;GDB:434012;KS610;L18426;RH40438;RH80824;SHGC-142619 HRH-J8 DDX10-NUP98 fusion protein type 2;DEAD box protein 10;DEAD box-10;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase);OTTHUMP00000233389;OTTHUMP00000233390;probable ATP-dependent RNA helicase DDX10 APPROVED protein-coding ENSG00000178105 HGNC:2735 03138 601235 REVIEWED 1312679 DDX17 DEAD (Asp-Glu-Ala-Asp) box helicase 17 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011] 22 22 22 q13.1 22685022 22707930 - 38879443 38903622 - 38483438 38506340 - 1580863;6480464;8554872 10591208;10837141;11250900;11675387;12138182;12171929;12193588;12477932;12595555;12738788;14559993;15298701;15324660;15342556;15461802;15489334;15635413;15848144;16009940;16055720;16189514;16196087;16344560;16964243;17011493;17226766;17332742;17643375;17699760;17765891;18005418;18334637;18457437;19059367;19322201;19394292;19531213;19596686;19718048;19738201;19902070;19928837;19946888;19995069;20020773;20080577;20085707;20360068;20508642;20639865;20663877;21081666;21139048;21145461;21150319;21182205;21252943;21319273;21549307;21679440;21832049;21890473;21900255;21906983;21907836;21942715;21963094;21987572;22053931;22113938;22174317;22266867;22268729;22354994;22365833;22446626;22505724;22623428;22751105;22863883;22939629;22944692;22963397;23000965;23022380;23022728;23084401;23125841;23254330;23443559;23463506;23608157;23769241;23825951;23862649;24244333;24332808;24457600;24550385;24583282;24639526;24654937;24816145;25015289;25027693;25036637;8619474;8871553;9110174;9747670 10521 H3BLZ8;Q59F66;Q92841 AA765457;AB209595;ABBA01055520;AF131750;AK024985;AK074224;AK303049;AL080113;AL713763;AMYH02038357;AU130891;BC000595;BC029553;BC045747;BI545691;BP353248;CB215934;CH471095;CR456432;NG_029642;NM_001098504;NM_006386;U59321;Z97056 AAC50787;AAD20033;AAH00595;BAD92832;BAG64169;CAG30318;CAH10627;CAK54423;CAK54722;EAW60241;EAW60242;EAW60243;EAW60244;EAW60245;EAW60246;EAW60247;EAW60248;NP_001091974;NP_006377;Q92841 Hs.528305;Hs.706116 1648103;1655266;1658183;1677654;1684321;1787858;2120896;2128524;2137241;2148806;2151501;2158389;2170828;2177765;2184974;2186727;2186729;5017861;7190091;7190095 1574;A004C33;A005Q45;A007C15;D22S1199;D22S1255;D22S292E;D22S314E;D22S996E;DDX17;G20426;G29202;RH28487;RH76347;SHGC-132664;SHGC-37043;STS-N22684;STS-W80852 DKFZp761H2016;P72;RH70 DEAD (Asp-Glu-Ala-Asp) box polypeptide 17;DEAD box protein 17;DEAD box protein p72;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD);DEAD/H box 17;OTTHUMP00000199223;OTTHUMP00000199224;OTTHUMP00000199226;RNA-dependent helicase p72;probable ATP-dependent RNA helicase DDX17 APPROVED protein-coding ENSG00000100201 HGNC:2740 10532 608469 REVIEWED 2902408 DDX11L8 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 8 ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent DNA helicase activity (inferred); DNA binding (inferred); INVOLVED IN ATP catabolic process (inferred); DNA duplex unwinding (inferred); FOUND IN nucleus (inferred) 12 p13.33 91213 94659 + 16541075;19476624 100288406 A8MPP1 AC215219;NG_017127 A8MPP1 5024318;5105062 stSG608800;stSG608801 pseudo HGNC:37101 INFERRED 2289767 DDX18P3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 3 6 6 6 p22.3 19601218 19603583 - 18363327 18365692 - 18363096 18365461 - 442164 ABBA01022236;AL138725;AMYH02013222;NG_008706 KIAA0161 pseudo HGNC:33966 INFERRED 2289753 DDX18P4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 4 5 5 5 q15 93899121 93901691 + 98015006 98017575 + 98679302 98681871 + 402222 ABBA01069207;AC008522;AMYH02011844;NG_008705 pseudo HGNC:33967 INFERRED 2301490 DDX18P6 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 6 10 10 10 q23.31 86559202 86563218 + 92812766 92816782 + 91053009 91057025 + 100131370 ABBA01021930;AL365434;AMYH02023520;NG_008704 1685834;1877916;1877924 REN9645;REN9649;RH26170 pseudo HGNC:31126 INFERRED 1352632 DDX12P DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent DNA helicase activity (inferred); DNA binding (inferred); INVOLVED IN ATP catabolic process (inferred); DNA duplex unwinding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH paracetamol (ortholog); potassium dichromate (ortholog) 12 12 12 p13.31 10974081 11004481 + 9570287 9600768 - 9417691 9448172 - 1580863;6480464 12477932;15252450;21890473;21906983;21987572;24816145;8833153;9013641 440081 Q92771 ABBA01012265;AC092821;AC141557;AMYH02026003;BC035635;BC065494;DQ786301;NR_033399;U33834 AAB06963;Q92771 Hs.447869;Hs.504688 5096865;5124928;5124962 ECD03348;RH65252;RH80562 CHLR2;DDX12 APPROVED pseudo HGNC:2737 601151 VALIDATED 2293115 DDX18P2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 2 15 15 15 q22.2 37051522 37053732 - 60163542 60165752 - 59871343 59873553 - 651053 ABBA01038956;AC092079;AMYH02030549;NG_007648 1340187 D15S527 651053 pseudo HGNC:21432 INFERRED 1348568 DDX18 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq, Jul 2008] 2 2 2 q14.1 111899413 111917115 + 118572255 118589953 + 117814679 117832377 + 1580863;6480464;8554872 12477932;12665801;14702039;15489334;16169070;16196087;16963496;18351129;19322201;19454010;19471022;19738201;19946888;20689807;21139048;21145461;21182205;21252943;21653321;21693764;21832049;21890473;21906983;21963094;22178446;22268729;22505724;22586326;22751105;22797925;22939629;22944692;22990118;24457600;24816145;25027693;8861962 8886 H7C452;Q8N254;Q9NVP1 AB209392;ABBA01045947;AC009312;AC009404;AK001467;AK091227;AMYH02004633;BC001238;BC003360;BC024739;BU599536;BX538334;CH471103;CR457060;NM_006773;X98743 AAH01238;AAH03360;AAH24739;AAX88947;AAY14819;BAA91709;BAC03616;BAD92629;CAA67295;CAG33341;EAW95192;EAW95193;EAW95194;NP_006764;Q9NVP1 Hs.744922 1647759;1652263;1676121;1680719;1685834;1719339;1736520;1803018;1805800;1805960;1807634;1807838;1808052;1808340;1811550;1814218;1814934;1814936;1818388;1818506;1819266;1821080;1823542;1825614;1829852;1833326;1836720;1839318;1840214;1845278;1877760;1877762;1877764;1877766;1877768;1877770;1877772;1877774;1877776;1877778;1877780;1877782;1877784;1877786;1877788;1877790;1877792;1877794;1877796;1877798;1877800;1877802;1877804;1877806;1877808;1877810;1877812;1877814;1877816;1877818;1877820;1877822;1877824;1877826;1877828;1877830;1877832;1877834;1877836;1877838;1877840;1877842;1877844;1877846;1877848;1877850;1877852;1877854;1877856;1877858;1877860;1877862;1877864;1877866;1877868;1877870;1877872;1877874;1877876;1877878;1877880;1877882;1877884;1877886;1877888;1877890;1877892;1877894;1877896;1877898;1877900;1877902;1877904;1877906;1877908;1877910;1877912;1877914;1877916;1877918;1877920;1877922;1877924;1877926;1877928;1877930;1877932;1877934;1877936;1877938;1877940;1877986;1877988;2199610;2199612;2199614;2199616;2199618;2199620;2199622;2199624;2199626;2199628;2199630;2199632;2199634;2199636;2199638;5014203;5015607;5022637 D11S2766;D11S3014;D15S727E;D2S2916;ECD02400;ECD03851;ECD03933;ECD04789;ECD04894;ECD05004;ECD05151;ECD06778;ECD08138;ECD08498;ECD08499;ECD10252;ECD10315;ECD10700;ECD11617;ECD12862;ECD13915;ECD16059;ECD17806;ECD19524;ECD20840;ECD21291;ECD23856;HSC0WF082;REN9566;REN9567;REN9568;REN9569;REN9570;REN9571;REN9572;REN9573;REN9574;REN9575;REN9576;REN9577;REN9578;REN9579;REN9580;REN9581;REN9582;REN9583;REN9584;REN9585;REN9586;REN9587;REN9588;REN9589;REN9590;REN9591;REN9592;REN9593;REN9594;REN9595;REN9596;REN9597;REN9598;REN9599;REN9600;REN9601;REN9602;REN9603;REN9604;REN9605;REN9606;REN9607;REN9608;REN9609;REN9610;REN9611;REN9612;REN9613;REN9614;REN9615;REN9616;REN9617;REN9618;REN9619;REN9620;REN9621;REN9622;REN9623;REN9624;REN9625;REN9626;REN9627;REN9628;REN9629;REN9630;REN9631;REN9632;REN9633;REN9634;REN9635;REN9636;REN9637;REN9638;REN9639;REN9640;REN9641;REN9642;REN9643;REN9644;REN9645;REN9646;REN9647;REN9648;REN9649;REN9650;REN9651;REN9652;REN9653;REN9654;REN9655;REN9656;REN9657;REN9680;REN9681;RH123396;RH26170;RH45043;RH66524;stSG618868;stSG618869;stSG618870;stSG618871;stSG618872;stSG618873;stSG618874;stSG618875;stSG618877;stSG618878;stSG618879;stSG618880;stSG618881;stSG618882;stSG618883 FLJ33908;MrDb ATP-dependent RNA helicase DDX18;DEAD box protein 18;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated);Myc-regulated DEAD box protein;OTTHUMP00000064465 APPROVED protein-coding ENSG00000088205 HGNC:2741 05894 606355 REVIEWED 2289764 DDX18P5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 5 11 11 11 q24.3 127332774 127335157 + 130164896 130167279 + 130295001 130297384 + 9847074 646378 ABBA01023035;AC019227;AMYH02025788;NG_008712 1737035 D11S2784 pseudo HGNC:33968 INFERRED 7175934 DDX20P1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 pseudogene 1 10 10 10 148799 149765 - 193770 194736 - 147830 148796 - 100421369 ABBA01035278;AL713922;AMYH02021968;NG_025412;NG_029960 pseudo HGNC:44673 INFERRED 1346558 DDX19B DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 55160454 55195108 - 70323670 70367735 + 70289767 70333832 + 1580863;6480464 10428971;11230166;11256614;12219940;12477932;1424986;14702039;15489334;16169070;17207965;17353931;19056867;19219046;19244245;19454010;19615732;19946888;20098747;21044950;21139048;21145461;21832049;21890473;21906983;22064466;22863883;23000965;23277564;24816145;8125298 11269 B4DL69;H3BMQ5;H3BMV7;H3BPV3;H3BQK0;H3BTX1;H3BUH0;Q9UMR2 ABBA01010670;ABBA01010671;AC012184;AF353720;AJ237946;AK027378;AK223115;AK296868;AK301938;AK302107;AK316346;AL136639;AMYH02032296;AMYH02032297;AMYH02032298;AMYH02032299;BC003626;BC010008;BC110805;BI756088;CH471241;CR457215;CR533509;DC385044;NM_001014449;NM_001014451;NM_001257172;NM_001257173;NM_001257174;NM_001257175;NM_007242;XM_006721126;XM_006721127 AAH03626;AAH10008;AAI10806;AAK40102;ACE86563;ACE87245;ADQ32729;BAD96835;BAG51311;BAG59431;BAG63358;BAG63488;BAH14717;CAB52189;CAB66574;CAG33496;CAG38540;EAW51827;EAW51831;EAW51832;EAW51833;EAW51834;EAW51837;NP_001014449;NP_001014451;NP_001244101;NP_001244102;NP_001244103;NP_001244104;NP_009173;Q9UMR2;XP_006721189;XP_006721190 Hs.221761 1644089;1645502;1847263;2108001;2132999 DDX19_9251;G22257;RH48691;SHGC-53094;SHGC-60774 DBP5;DDX19;RNAh ATP-dependent RNA helicase DDX19;ATP-dependent RNA helicase DDX19B;DEAD (Asp-Glu-Ala-As) box polypeptide 19B;DEAD box RNA helicase DEAD5;DEAD box protein 19B;DEAD-box RNA helicase DEAD5;DEAD-box protein 5;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog);OTTHUMP00000174901;dead (asp-glu-ala-as) box polypeptide 19;yeast Dbp5 homolog APPROVED protein-coding ENSG00000157349 HGNC:2742 05781 605812 REVIEWED 1351654 DDX18P1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 1 14 14 14 q24.1 49614176 49616537 + 69550062 69552423 + 69083345 69085706 + 319099 ABBA01023681;AL391262;AMYH02029430;NG_002480 pseudo HGNC:20007 INFERRED 1349788 DDX19A DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A ENCODES a protein that exhibits ATP binding (inferred); helicase activity (inferred); nucleic acid binding (inferred); INVOLVED IN metabolic process (inferred); mRNA transport (inferred); positive regulation of apoptotic process (inferred); FOUND IN cytoplasm; membrane; INTERACTS WITH atrazine; cobalt dichloride; hydrogen peroxide 16 16 16 q22.1 55120903 55147361 - 70380764 70407286 + 70346861 70373383 + 737633;1580863;6480464 12477932 14702039;15489334;16189514;19946888;21139048;21549307;21890473;21906983;22863883;22939629;22990118;23000965;23752268;24816145;8125298 55308 B4DRZ7;H3BP36;H3BP50;H3BSL8;H3BTB3;I3L0H8;I3L352;J3QRH0;Q9NUU7 AB209401;ABBA01010668;ABBA01010669;AC012184;AK001988;AK094061;AK125701;AK223262;AK299504;AK299539;AK310604;AK310804;AK310808;AL832901;AL832970;AMYH02032300;BC005162;BC006544;BC025771;BC137496;BC137497;CH471241;CR749227;NM_018332;XM_005256030 AAH05162;AAH06544;AAI37497;AAI37498;ADZ15486;BAA92022;BAD92638;BAD96982;BAG61459;BAG61486;CAH10622;CAH10629;CAH18083;EAW51826;NP_060802;Q9NUU7;XP_005256087 Hs.656037 1644089;1683114;2173723;2174255;5015879;5015961;5020740;5022322;5022651;5037552 A004G36;D11S2560;D11S2921;D15S1477;D8S2279;GDB:314949;L17809;RH64883;SHGC-60774;STS-H42142 DDX19-DDX19L;DDX19L;DKFZp686C21137;FLJ11126 ATP-dependent RNA helicase DDX19A;DDX19-like protein;DEAD (Asp-Glu-Ala-As) box polypeptide 19A;DEAD box protein 19A;OTTHUMP00000174903;RNA helicase APPROVED protein-coding ENSG00000168872 HGNC:25628 07732;18679 PROVISIONAL 6481206 DDX26B-AS1 DDX26B antisense RNA 1 q26.3 100874118 AA877540;AL357834;HG512709;NR_046740 Hs.602150 APPROVED ncrna HGNC:41180 VALIDATED 1312763 DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008] 10 10 10 q21 63991762 64020150 + 70715879 70744825 + 68956123 68985069 + 1580863;6480464;8554872 10860663;11237763;11790298;11823437;11891046;12477932;12777385;14559904;15164054;15302935;15367657;15489334;15635413;15840729;15848144;16045751;16159877;16210410;16385451;16565220;17081983;17353931;18029348;18180292;18781797;19394292;19454010;19596686;19710015;19738201;20020773;20360068;20431927;20462248;20800221;20873769;21044950;21139048;21145461;21149631;21182205;21252943;21319273;21385873;21726808;21890473;21907836;22108332;22113938;22174317;22178446;22268729;22446626;22586326;22623428;22751105;22939629;22952844;23000965;23125841;23145133;23151878;23184937;23277564;23398456;23419719;23443559;23503679;23602568;23608157;23825951;24457600;24550385;24583282;24591637;24639526;24654937;24816145;25027693;8614622;9177271 9188 Q3SWU7;Q9NR30 AA446317;AB062394;ABBA01019594;ABBA01019595;AF261902;AF261903;AF261904;AF261905;AF261906;AF261907;AF261908;AF261909;AF261910;AF261911;AF261912;AF261913;AF261914;AF261915;AF261916;AF261917;AK025629;AK315585;AL359844;AMYH02023266;BC004182;BC008071;BC009432;BC017228;BC104671;BU963561;BX648405;CH471083;CR749598;DW408689;NM_001256910;NM_004728;U41387 AAB02546;AAF78930;AAH08071;AAI04672;ABM84557;ABM87851;BAB93481;BAG37957;CAH18395;EAW54305;EAW54306;EAW54307;NP_001243839;NP_004719;Q9NR30 Hs.223141 1646714;1682589;1689334;1712142;2118381;2219074;5126861 DDX21__4686;G54121;RH11523;RH44177;RH44765;RH70628;RH93328 DKFZp686F21172;GUA;GURDB;RH-II/GU;RH-II/GuA DEAD (Asp-Glu-Ala-Asp) box polypeptide 21;DEAD box protein 21;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21;Gu protein;OTTHUMP00000019713;RH II/Gu;RNA helicase II/Gu alpha;gu-alpha;nucleolar RNA helicase 2;nucleolar RNA helicase Gu;nucleolar RNA helicase II APPROVED protein-coding ENSG00000165732 HGNC:2744 05895 606357 REVIEWED 1318600 DDX23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 q13.12 48019665 48042067 - 49223539 49245957 - 48829756 48852188 - 6480464;6907045;8554872 11971955;11991638;12090300;12226669;12477932;12840015;15489334;15635413;15848144;16055720;17081983;17332742;17353931;17643375;18029348;18425142;18854154;18954305;19199708;19471022;19596686;19615732;20308539;20360068;21044950;21139048;21252943;21890473;21926972;22446626;22586326;22939629;22990118;23125841;23602568;24332808;24457600;24591637;24816145;25027693;9409622;9539711;9774689 9416 B3KY11;F8VVA2;F8W1J5;H0YI52;H0YIL9;Q9BUQ8 ABBA01031488;ABBA01031489;ABBA01031490;AC117498;AF026402;AK128428;AK292921;AK294877;AK312379;AMYH02026427;BC002366;CD709611;CH471111;NM_004818;XM_006719699 AAB87902;AAH02366;ABM82351;ABM85525;BAF85610;BAG35297;BAG54673;BAG57976;EAW58010;EAW58011;EAW58012;EAW58013;EAW58014;EAW58015;EAW58016;EAW58017;NP_004809;Q9BUQ8;XP_006719762 Hs.130098 2150383;5121301 D12S1952;RH68064 MGC8416;PRPF28;SNRNP100;U5-100K;U5-100KD;prp28 100 kDa U5 snRNP-specific protein;DEAD box protein 23;OTTHUMP00000243686;PRP28 homolog, yeast;PRP28p homolog;U5 snRNP 100 kD protein;probable ATP-dependent RNA helicase DDX23 APPROVED protein-coding ENSG00000174243 HGNC:17347 09908 612172 REVIEWED 1353633 DDX25 DEAD (Asp-Glu-Ala-Asp) box helicase 25 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008] 11 11 11 q24 122934293 122953028 + 125774261 125793005 + 125904366 125923110 + 68232;1580863;6480464 10608860 12477932;15094194;15096601;15489334;16293649;17848414;17889551;19536092;19875492;20378615 29118 E9PR46;H0YD26;J3QL17;J3QRJ6;Q9UHL0 ABBA01031233;AF155140;AK295121;AK312772;AMYH02025740;AP000842;AY735312;BC031098;BC035388;BC050360;CD359894;CD657404;CH471065;DC395868;NM_013264;XM_005271529 AAF21371;AAH35388;AAH50360;AAU84667;BAG35637;BAG58148;EAW67668;EAW67669;NP_037396;Q9UHL0;XP_005271586 Hs.420263 GRTH ATP-dependent RNA helicase DDX25;DEAD (Asp-Glu-Ala-Asp) box polypeptide 25;DEAD box protein 25;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25;OTTHUMP00000231322;OTTHUMP00000231323;gonadotropin-regulated testicular RNA helicase APPROVED protein-coding ENSG00000109832 HGNC:18698 06367 607663 REVIEWED 1343446 DDX26B DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B INTERACTS WITH arsane; arsenic atom; atrazine X X X q26.3 135038518 135100404 + 134654555 134716460 + 135520630 135582535 + 6480464 12477932;14702039;15146197;15772651;16344560;17043677;20133760;20936779;21890473 203522 Q5JSJ4;Q8N8M2 ABBA01050077;ABBA01050078;ABBA01050079;ABBA01050080;ABBA01050081;ABBA01050082;ABBA01050083;ABBA01050084;ABBA01050085;ABBA01050086;ABBA01050087;AI187071;AK096544;AK123209;AK126202;AK308423;AL357834;AL391380;AL833319;AMYH02040554;AMYH02040555;BC140715;BM455073;BQ044923;BX648113;CH471107;CN343659;CR936620;DB231166;NM_182540;XM_005262394;XM_006724740;XM_006724741;XR_430544;XR_430545 AAI40716;BAC04813;BAC85559;CAI56763;EAX11725;EAX11726;EAX11727;NP_872346;Q5JSJ4;XP_005262451;XP_006724803;XP_006724804 Hs.496829 1679149;1702844;1738999 DXS7426;DXS912;RH81012 DKFZp686G0470;FLJ41215;MGC88298 OTTHUMP00000024075 protein-coding ENSG00000165359 HGNC:27334 06618 VALIDATED 1353174 DDX24 DEAD (Asp-Glu-Ala-Asp) box helicase 24 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. [provided by RefSeq, Jul 2008] 14 14 14 q32 74571013 74601331 - 94517268 94547558 - 94050922 94081212 - 1580863;6480464 10936056;11076863;11230166;11256614;12477932;14702039;15014966;15302935;15489334;15489336;15561718;15635413;16051665;16169070;16226712;16381901;16964243;17081983;17353931;18029348;18289627;18954305;19454010;19596686;19615732;19946888;20237496;21044950;21139048;21145461;21252943;21890473;21906983;21988832;22113938;22174317;22505724;22586326;22751105;22939629;22990118;23443559;24163370;24457600;24816145;25027693 57062 F5GYL3;G3V529;Q9GZR7 AB209382;ABBA01030421;ABBA01030422;ABBA01030423;AF134475;AF145022;AF161446;AF214731;AK025162;AK294613;AK296726;AK297232;AK304504;AL079302;AL136886;AMYH02029779;BC000778;BC008847;BC009406;BC096826;BX537533;CH471061;NM_020414 AAF29006;AAG02169;AAH08847;AAH09406;AAH96826;AAP97252;AAP97274;ABM84449;ABM87509;BAB15079;BAD92619;BAG57797;BAG59314;BAG59715;BAG65312;CAB66820;CAL38415;EAW81550;EAW81551;EAW81552;NP_065147;Q9GZR7 Hs.510328 1652304;1736382;1736392;1736446;1739145;1851893;1857179;2114496;2146018;2149352;2153259 A002F39;D14S638E;D14S652E;D14S667E;D14S708E;D14S798;D14S832;D14S900;RH1626;RH46093;SGC34995 ATP-dependent RNA helicase DDX24;DEAD (Asp-Glu-Ala-Asp) box polypeptide 24;DEAD box protein 24;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24;OTTHUMP00000245764;OTTHUMP00000245765;OTTHUMP00000245766;S. cerevisiae CHL1-like helicase APPROVED protein-coding ENSG00000089737 HGNC:13266 05860 606181 REVIEWED 1312596 DDX31 DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 9 9 9 q34.13 106011427 106087527 - 135468384 135545788 - 132592997 132670401 - 6480464;8554872 12429849;12477932;12782131;14702039;15164053;15489334;15635413;19389623;21139048;21145461;22586326;22751105;22939629;23019224;24457600;24816145;8125298 64794 B4E3G7;F8WAJ0;Q9H8H2 ABBA01032483;ABBA01032484;AF335567;AF335568;AF335569;AF427339;AK023695;AK027002;AK027484;AK225121;AK225350;AK302670;AK304715;AL160165;AL354735;AMYH02021812;BC012726;CH471090;HH961794;NM_022779;NM_138620;XM_005272206;XM_005272207;XM_005272208;XM_006717236;XR_246600;XR_428534 AAH12726;AAI56833;AAL26549;AAQ14888;AAQ14889;AAQ14890;BAB14644;BAB15620;BAB55146;BAG63903;BAG65479;CBX51370;EAW88006;EAW88007;EAW88008;EAW88009;NP_073616;NP_619526;Q9H8H2;XP_005272263;XP_005272264;XP_005272265;XP_006717299 Hs.660767 1653331;1674926;1721057;1767912;1854403;2112012;2218470 A009E13;D9S2127;DDX31_4688;G59510;RH48740;WI-16882;WI-20657 FLJ13633;FLJ14578;FLJ23349;PPP1R25 DEAD box protein 31;DEAD/DEXH helicase DDX31;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31;G2 helicase;OTTHUMP00000022436;OTTHUMP00000022437;OTTHUMP00000022438;helicain;probable ATP-dependent RNA helicase DDX31;protein phosphatase 1, regulatory subunit 25 APPROVED protein-coding ENSG00000125485 HGNC:16715 10860 REVIEWED 5129005 DDX39AP1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A pseudogene 1 13 13 13 q12.11 4339209 4342674 - 23276879 23280344 - 22702740 22706205 - 646164 ABBA01068625;AL354828;AMYH02027680;NG_011331 pseudo HGNC:39664 INFERRED 1320818 DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008] 1 1 1 p21.1-p13.2 110544810 110556818 + 112298190 112310199 + 111755568 111767577 + 1580863;6480464 10383418;10531003;10601333;10725331;10942426;11149922;11509230;11713266;11714716;11748230;11914277;12007404;12065586;12095920;12477932;12668731;14667819;14702039;14963109;14970384;15130578;15302935;15489334;16153597;16301532;16344560;16710414;16964243;17314511;17353931;18029348;18381463;18984161;19138993;19471022;19596235;19928837;19946888;20157854;20211803;20562859;20585341;20620147;20696395;20732906;20819778;21081666;21139048;21145461;21300694;21693764;21800163;21832049;21890473;21963094;22118674;22174681;22190034;22335944;22354994;22445758;22505724;22586326;22797925;22898998;22939629;22990118;23221635;23246001;23752268;23956138;24023879;8619474;9110174 11218 E9PJ60;Q9H4N4;Q9UHI6 ABBA01068399;AF106019;AF155803;AF171063;AK001506;AK301697;AK314312;AL049557;AL133598;AMYH02001730;AY007146;BC011556;BC031062;BC034953;CH471122;DB072947;KF455017;NM_007204 AAD42744;AAF14544;AAG02003;AAH11556;AAH31062;AAH34953;AAK56799;ABM83175;ABM86375;BAA91727;BAG63169;CAB63734;EAW56507;EAW56508;NP_009135;Q9UHI6 Hs.591405 2126328;2144863 SHGC-31883;WI-19890 DKFZp434H052;DP103;GEMIN3 DEAD box protein 20;DEAD box protein DP 103;DEAD-box protein DP103;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD;OTTHUMP00000013738;SMN-interacting protein;component of gems 3;gemin-3;probable ATP-dependent RNA helicase DDX20 APPROVED protein-coding ENSG00000064703 HGNC:2743 05859 606168 REVIEWED 1350107 DDX39A DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] 19 19 19 p13.12 14413761 14424296 - 14519610 14530195 - 14408798 14419383 - 727748;1580863;6480464;8554872 7601445 11790298;11979277;12477932;14667819;14702039;15047853;15338056;15489334;15635413;16341674;16344560;16949217;17196963;17548965;18781797;19115949;19471022;19615732;19946888;20360068;20562859;20573985;20610707;21044950;21110914;21139048;21252943;21388492;21799930;21859714;21890473;21900206;21906983;21912425;21963094;22119546;22197932;22268729;22494014;22505724;22797925;22863883;23000965;23602568;23667531;23749908;24140708;24250222;24457600;24583282;24816145 10212 B1Q2N1;K7EIL8;K7EL56;K7EN25;K7EN69;K7ENP6;K7EPJ3;K7EQN7;O00148 AB254849;ABBA01029669;ABBA01029670;AC008569;AK293911;AK301847;AL512698;AMYH02035617;BC001009;BC010455;BC032128;BM792110;CH471106;DA432925;DB032777;NG_029055;NM_005804;NR_046366;U90426;XM_006722606 AAB50231;AAH01009;AAH32128;ABM82313;ABM85489;BAG16272;BAG57295;BAG63290;CAH10601;EAW84414;EAW84415;EAW84416;EAW84417;EAW84418;NP_005795;O00148;XP_006722669 Hs.311609 1661759;1769790;2175756 RH12356;RH79172;STS-X84700 BAT1;BAT1L;DDX39;DDXL;MGC18203;MGC8417;URH49 ATP-dependent RNA helicase DDX39;ATP-dependent RNA helicase DDX39A;DEAD (Asp-Glu-Ala-Asp) box polypeptide 39;DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 transcript;DEAD box protein 39;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39;UAP56-related helicase, 49 kDa;nuclear RNA helicase URH49;nuclear RNA helicase, DECD variant of DEAD box family APPROVED protein-coding ENSG00000123136 HGNC:17821 10861 REVIEWED 4892545 DDX39BP1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B pseudogene 1 6 6 p21.3 29874324 29875226 + 29906547 29907449 + 100048904 ABBA01038039;AL645935;AL845454;AL928614;AMYH02013425;BX284699;BX927141;CR388220;CR759913;CT009517;NG_028140 BAT1P1 pseudo HGNC:33450 INFERRED 5133406 DDX3YP1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 1 X X X q13.2 73624319 73635232 + 73340847 73351760 + 74121012 74131925 + 100133180 AL359740;AMYH02039775;NG_022674 pseudo HGNC:42171 INFERRED 1313779 DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, the function of which has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 44540460 44565227 + 47835832 47860614 + 49219295 49244077 + 1580863;6480464;8554872 11780052;11790298;12477932;14702039;15489334;15498874;15635413;16169070;17353931;20936779;21139048;21182205;22178446;22586326;22939629;23125841;23752268;24250222;24457600;24778252;24816145;25027693;8125298;8889548 55661 Q3MI07;Q96GQ7 ABBA01052741;AF193054;AF336851;AK000603;AK022979;AK025891;AK127128;AK223116;AK300135;AL049766;AL357560;AL512707;AL832131;AMYH02037208;AMYH02037209;AMYH02037210;AY044431;BC009304;BC011927;BC016060;BC104480;BC126287;BC130275;BC144125;BF026095;BM970582;CH471077;DB442175;EU718675;NM_017895;XM_006723815 AAG22482;AAH09304;AAH11927;AAH16060;AAI04481;AAI26288;AAI30276;AAI44126;AAK21271;AAK95821;ACD91989;ADR83262;ADR83300;BAA91284;BAB14343;BAD96836;BAH13221;EAW75665;EAW75666;EAW75667;EAW75668;NP_060365;Q96GQ7;XP_006723878 Hs.65234 2174340;2188777;5014051;5015619;5016478;5037552 D11S3114;D8S2278;D8S2279;G66598;GDB:434012;WI-13369 DKFZp667N057;DRS1;Drs1p;FLJ12917;FLJ20596;FLJ22238;HSPC259;MGC1018;MGC163147;PP3241;RHLP;Rrp3p;dJ686N3.1 DEAD box protein 27;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27;Deficiency of ribosomal subunits protein 1 homolog;OTTHUMP00000031771;RNA helicase-like protein;probable ATP-dependent RNA helicase DDX27 APPROVED protein-coding ENSG00000124228 HGNC:15837 10859 REVIEWED 4892544 DDX39BP2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B pseudogene 2 6 6 p21.33 29960986 29961910 + 29993209 29994133 + 100048923 ABBA01038041;AL645935;AL671277;AL845454;AMYH02013426;BX005091;BX927229;CR388205;CR759763;CR759943;NG_028139 BAT1P2;BPG309N1.15 pseudo HGNC:33461 INFERRED 6480925 DDX3YP2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 2 X X 73352839 73352949 - 74133004 74133114 - 100874489 AL359740;AMYH02039775;NG_032456 pseudo HGNC:42172 INFERRED 1323712 DDX28 DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52563630 52566223 - 68055177 68057770 - 68021274 68023867 - 1580863;6480464 10493829;11256614;11350955;12477932;12663657;14702039;15489334;16344560;18029348;18063578;19531213;20186120;20360068;20877624;21145461;22446626;22939629;8889548 55794 Q9NUL7 ABBA01025471;AC130462;AF329821;AK002144;AMYH02032245;BC014517;BC024273;BM671594;CF993871;CH471092;DA159162;NM_018380 AAG59833;AAH24273;BAA92106;EAW83206;NP_060850;Q9NUL7 Hs.458313 1657189;2153778 Bdy91f03;SHGC-57903 FLJ11282;MDDX28 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28;OTTHUMP00000174854;mitochondrial DEAD box protein 28;mitochondrial DEAD-box polypeptide 28;probable ATP-dependent RNA helicase DDX28 APPROVED protein-coding ENSG00000182810 HGNC:17330 06357 607618 REVIEWED 737407 DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011] 6 6 6 p21.3 33096234 33108459 - 31497996 31510252 - 31530219 31542475 - 727748;1580863;6480464;6907045;8554872 7601445 10343160;11170743;11380625;11675789;11790298;11979277;12477932;12944400;14499622;14559993;14574404;14667819;15028669;15047853;15296731;15324660;15338056;15489334;15576338;15585580;15635413;15833825;15843211;15870275;15969671;15998806;16101831;16169070;16196087;16344560;16478985;16949217;17190602;17517687;17562711;17620012;18240960;18381799;18411249;18593880;18715507;18834321;18974867;18987644;19115949;19264631;19322201;19403039;19505873;19733147;19738201;19836239;19851445;19913121;20116367;20360068;20379614;20453000;20573985;20610707;20628086;20828777;20844015;20854863;20933106;20981025;21081666;21110914;21139048;21147923;21319273;21507964;21680511;21799930;21859714;21890473;21906983;21912425;21963094;22071774;22178446;22197932;22304920;22446327;22505724;22623428;22863883;22939629;22990118;23000965;23125841;23151878;23222130;23602568;23862649;24250222;24457600;24550385;24583282;24811749;24816145;2813433;2911734;8012384;8125298;9242493 7919 B4DIJ6;B4DP52;F6QWI5;F6QYI9;F6R6M7;F6S2B7;F6S4E6;F6SXL5;F6TRA5;F6U6E2;F6UJC5;F6WLT2;H0Y400;H0YCC6;Q13838;Q5STU3 AB088115;AB103621;AB202112;AB209217;ABBA01038080;ABBA01038081;AF029061;AF029062;AK127767;AK222912;AK294939;AK295634;AK295854;AK298194;AK316469;AL662801;AL662847;AMYH02013452;BA000025;BC000361;BC013006;BM993499;BT009909;BU628632;BX001040;BX248516;BX927320;CH471081;CR753820;CR753864;CT009531;DA048099;DA272922;NM_004640;NM_080598;NR_037852;Y14768;Z37166;Z60417 AAB94615;AAC63046;AAH00361;AAH13006;AAP88911;ABM82807;ABM85993;BAB63306;BAC54953;BAD92454;BAD96632;BAE78637;BAF31287;BAG58016;BAG58508;BAG58660;BAG60464;BAH14840;CAA75074;CAA85523;EAX03404;EAX03406;EAX03407;EAX03408;EAX03409;EAX03410;EAX03411;EAX03413;NP_004631;NP_542165;Q13838 Hs.254042;Hs.730849 1689300;1728965;1786110;5017795 CH241-100F12_SP6;D17H6S81E-1;RH1521;SHGC-172533 BAT1;D6S81E;UAP56 56 kDa U2AF65-associated protein;ATP-dependent RNA helicase p47;DEAD box protein UAP56;DEAD-box protein UAP56;HLA-B-associated transcript 1 protein;OTTHUMP00000029229;OTTHUMP00000029231;OTTHUMP00000165889;OTTHUMP00000165890;U2AF65-associated protein 56;hla-b-associated transcript 1a;nuclear RNA helicase (DEAD family);spliceosome RNA helicase BAT1;spliceosome RNA helicase DDX39B APPROVED protein-coding ENSG00000198563 HGNC:13917 00805 142560 REVIEWED 5133408 DDX3YP3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 3 4 4 4 q24 101791322 101793751 + 104493246 104495231 + 103572089 103574074 + 650560 ABBA01063716;AC105460;AMYH02009824;NG_028846 pseudo HGNC:42173 INFERRED 1323380 DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 171557772 171563161 + 176938578 176943967 - 177511577 177516966 - 1580863;6480464;8554872 10607561;11991638;12477932;14702039;15302935;15489334;15635413;15690390;16565220;17081983;17353931;17474147;18029348;19615732;19946888;20360068;21139048;21145461;21209461;21252943;21890473;21892174;22365833;22797925;23142775;23443559;23752268;24250222;24778252;8125298 51428 B3KRK2;D6RD33;D6RGI7;H0Y8L8;H0YA06;J3KNN5;Q9UJV9 ABBA01033452;AC145098;AF195417;AK001255;AK026117;AK027768;AK091545;AK091774;AK092585;AK222598;AK310525;AK315491;AL137455;AMYH02012839;BC015476;BC067902;BX641072;CH471195;CQ859814;NM_016222;XM_006714870 AAF04150;AAH15476;ADZ15529;BAA91585;BAB55355;BAD96318;BAG37875;BAG52414;CAB70746;CAE46035;CAH25957;EAW84977;EAW84978;EAW84979;EAW84980;EAW84981;NP_057306;Q9UJV9;XP_006714933 Hs.484288 1645087;1853021;2119595;2191521 A002K19;G16059;MARC_24355-24356:1030120548:1;RH47489 ABS;MGC8828 2900024F02Rik;DEAD box protein 41;DEAD box protein abstrakt homolog;DEAD-box protein abstrakt;OTTHUMP00000161451;OTTHUMP00000223824;probable ATP-dependent RNA helicase DDX41;putative RNA helicase APPROVED protein-coding ENSG00000183258 HGNC:18674 10490 608170 REVIEWED 1352934 DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a homolog located in the nonrecombining region of the Y chromosome, and multiple pseudogenes to this homolog have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] X X X p11.3-p11.23 45333407 45350283 + 41192561 41209527 + 41333398 41350274 + 1580863;6480464;6907045 10074132;10329544;10336476;10859333;11256614;11710523;12477932;14559993;14729942;14743216;15047060;15161933;15231748;15489334;15507209;15516266;15588285;15592455;15998806;16055720;16094384;16097034;16159877;16301996;16341674;16354571;16712791;16818630;17108031;17353931;17357160;17361185;17401195;17620599;17631897;17661632;17667941;17696464;17855521;18029348;18187620;18259889;18264132;18377426;18508616;18583960;18596238;18628297;18632687;18636090;18729074;18845156;18846110;18976975;19056867;19135240;19149558;19322201;19380743;19394292;19454010;19738201;19782656;19793905;19805454;20018238;20020773;20080577;20127681;20308691;20508642;20657822;20811636;20837705;20862261;21080425;21081666;21139048;21145461;21170385;21182205;21237216;21252943;21319273;21358275;21360055;21428961;21448281;21549307;21575865;21589879;21726808;21730191;21853274;21883093;21890473;21906983;21942715;21963094;21987572;22053931;22113938;22145905;22174317;22178446;22210892;22268729;22270009;22412018;22492871;22505724;22623428;22797925;22810585;22863883;22872150;22939629;23000965;23084401;23125841;23151878;23330003;23402259;23413191;23438482;23463506;23478265;23527197;23584477;23606618;23608157;23673860;23754689;23840900;23862649;23974721;24183723;24244333;24250222;24332808;24418539;24457600;24583282;24584351;24639526;24816145;25015289;25027693;25039764;25208899;9381176;9730595 1654 B4DLA0;B4E3C4;O00571 AB208983;AB451220;AB451343;ABBA01046690;ABBA01046691;ABBA01046692;ABBA01046693;AC073076;AF000982;AF000983;AF061337;AF086430;AI698207;AK127902;AK291153;AK296906;AK297159;AK304661;AK304689;AK310891;AL391647;AMYH02039205;AY776161;BC007668;BC011819;BC055083;BM454841;BM833870;CB107740;CH471141;NG_012830;NM_001193416;NM_001193417;NM_001356;U50553 AAB95637;AAC34298;AAC51829;AAC51830;AAH11819;AAV52794;BAD92220;BAF83842;BAG59462;BAG59657;BAG65436;BAG65460;BAG70034;BAG70157;EAW59402;EAW59403;EAW59404;EAW59405;NP_001180345;NP_001180346;NP_001347;O00571 Hs.743263 1712567;1748485;1797090;2131500;2132965;2155396;2157402;2190857;5017322;5022345;5092368 DBX;DDX3;DDX3X;DXS7525;G34988;G41926;G49473;RH78345;SHGC-33274;U42386;UniSTS:51773 CAP-Rf;DBX;DDX14;DDX3;DEAD/H box-3;HLP2 ATP-dependent RNA helicase DDX3X;DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked;DEAD box protein 3, X-chromosomal;DEAD box, X isoform;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3;OTTHUMP00000023143;helicase like protein 2;helicase-like protein 2 APPROVED protein-coding ENSG00000215301 HGNC:2745 02154 300160 REVIEWED 1345973 DDX43 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008] 6 6 6 q13 74498837 74521848 + 74104285 74127289 + 73394562 73417566 + 1580863;6480464;8554872 10919659;11076863;11230166;11256614;12477932;12890744;15489334;15489336;16344560;16381901;17296563;17487488;20058853;21832049;22040965;22393060;22563673;23495895;24656837 55510 B4E0C8;Q9NXZ2 ABBA01040316;AC019205;AJ278110;AK303324;AK313686;AL136751;AMYH02013909;BC056879;BC066938;BQ020439;BX646425;CH471051;DA453913;NM_018665;XM_006715508 AAH66938;BAG36435;BAG64390;CAB66685;CAB92442;CAL38376;EAW48770;NP_061135;Q9NXZ2;XP_006715571 Hs.125507 1752339;1801844;1804160;1809044;1810154;1812132;1815718;1816162;1817342;1821992;1826020;1827538;1833498;1834508;1835230;1836372;1836602;1837370;1837728;1839180;1840560;1842072;1844178;1845760;1923640;1923642;1923644;1923646;1923648;1923650;1923652;1923654;1923656;1923658;1923660;1923662;1923664;1923666;1923668;1923670;1923672;1923674;1923676;1923678;1923680;1923682;1923684;1923686;1923688;1923690;1923692;1923694;1923696;1923698;1923700;1923702;1923704;1923706;1923708;1923710;1923712;1923714;1923716;1923718;1923720;1923722;1923724;1923726;1923728;1923730;1923732;1923734;1923736;1923738;1923740;1923742;1923744;1923746;1923748;1923750;1923752;1923754;1923756;1923758;1923760;1923762;1923764;1923766;1923768;1923770;1923772;1923774;1923776;1923778;1923780;1923782;1923784;1923786;1923788;1923790;1923792;1923794;1923796;1923798;1923800;1923802;1923804;1923806;1923808;1923810;1923812;1923814;1923816;1923818;1923820;1923822;1923824;1923826;1923828;1923830;1923832;1923834;1923836;1923838;1923840;1923842;1923844;1923846;1923848;2207270;2207272;2207274;2207276;2207278;2207280;2207282;2207284;2207286;2207288;2207290;2207292;2207294;2207296;2207298;2207300;2207302;2207304;2207306;2207308 ECD01803;ECD03000;ECD05509;ECD06069;ECD07071;ECD08897;ECD09121;ECD09721;ECD12082;ECD14119;ECD14885;ECD17892;ECD18402;ECD18770;ECD19348;ECD19465;ECD19852;ECD20032;ECD20770;ECD21467;ECD22239;ECD23302;ECD24099;REN32644;REN32645;REN32646;REN32647;REN32648;REN32649;REN32650;REN32651;REN32652;REN32653;REN32654;REN32655;REN32656;REN32657;REN32658;REN32659;REN32660;REN32661;REN32662;REN32663;REN32664;REN32665;REN32666;REN32667;REN32668;REN32669;REN32670;REN32671;REN32672;REN32673;REN32674;REN32675;REN32676;REN32677;REN32678;REN32679;REN32680;REN32681;REN32682;REN32683;REN32684;REN32685;REN32686;REN32687;REN32688;REN32689;REN32690;REN32691;REN32692;REN32693;REN32694;REN32695;REN32696;REN32697;REN32698;REN32699;REN32700;REN32701;REN32702;REN32703;REN32704;REN32705;REN32706;REN32707;REN32708;REN32709;REN32710;REN32711;REN32712;REN32713;REN32714;REN32715;REN32716;REN32717;REN32718;REN32719;REN32720;REN32721;REN32722;REN32723;REN32724;REN32725;REN32726;REN32727;REN32728;REN32729;REN32730;REN32731;REN32732;REN32733;REN32734;REN32735;REN32736;REN32737;REN32738;REN32739;REN32740;REN32741;REN32742;REN32743;REN32744;REN32745;REN32746;REN32747;REN32748;SHGC-106295;stSG625863;stSG625864;stSG625865;stSG625866;stSG625867;stSG625868;stSG625869;stSG625870;stSG625871;stSG625872;stSG625873;stSG625874;stSG625875;stSG625876;stSG625877;stSG625878;stSG625879;stSG625880;stSG625881;stSG625882 CT13;DKFZp434H2114;HAGE DEAD box protein 43;DEAD box protein HAGE;DEAD-box protein 43;OTTHUMP00000016742;cancer/testis antigen 13;helical antigen;probable ATP-dependent RNA helicase DDX43 APPROVED protein-coding ENSG00000080007 HGNC:18677 10448 606286 REVIEWED 8662579 DDX43P1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 pseudogene 1 5 5 5 111258588 111260342 - 115310211 115311965 - 115974514 115976268 - 100421307 ABBA01069029;AC010282;AMYH02012011;NG_024622 pseudo HGNC:50780 INFERRED 8662580 DDX43P2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 pseudogene 2 7 7 49298114 49299376 - 49258518 49259780 - 100533714 ABBA01008183;AC010971;AMYH02015676;NG_028665 pseudo HGNC:50781 INFERRED 1321338 DDX47 DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 p13.1 18115010 18131645 + 12966280 12982915 + 12813346 12829981 + 6480464;8554872 11024137;11076863;11230166;11256614;12429849;12477932;14702039;15102925;15489334;15489336;15635413;15977068;16381901;16963496;17932509;18029348;18482256;19471022;19615732;19710015;19738201;19946888;20706999;21081666;21110914;21139048;21145461;21693764;21832049;21890473;21906983;21907836;21963094;21988832;22174317;22505724;22939629;23000965;23602568;24244333;24457600;24816145;8125298 51202 F5H1N9;Q9H0S4 ABBA01067853;AC007215;AF078843;AF190165;AJ276704;AK054574;AK222940;AK225144;AK302536;AK310501;AL136666;AL833469;AMYH02026065;BC009379;BC068009;CH471094;EF036507;NM_016355;NM_201224 AAF23354;AAH09379;AAH68009;AAQ13709;ABO65093;BAB70762;BAD96660;BAG63808;CAB66601;CAC14786;CAL38198;CAL38590;EAW96277;EAW96281;EAW96283;NP_057439;NP_957518;Q9H0S4 Hs.719938 1706350;1733598;1736282;2139968 A002Q26;D12S1235E;D12S929;SHGC-80741 DKFZp564O176;E4-DBP;FLJ30012;HQ0256;MSTP162;RRP3 DEAD box polypeptide 47;DEAD box protein 47;E4-DEAD box protein;OTTHUMP00000239226;OTTHUMP00000239227;OTTHUMP00000239228;probable ATP-dependent RNA helicase DDX47 APPROVED protein-coding ENSG00000213782 HGNC:18682 10863 615428 REVIEWED 1348882 DDX3Y DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it has a homolog on the X chromosome. The gene mutation causes male infertility, Sertoli cell-only syndrome or severe hypospermatogenesis, suggesting that this gene plays a key role in the spermatogenic process. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] X Y Y q11 2009474 2025845 + 15016019 15032390 + 12903985 12920478 + 1580863;6480464;6907045 10767340;10861003;11591417;11710523;11929796;12477932;12815422;15096539;15144186;15294876;15383328;15489334;15570572;15592455;15862967;16449650;17643375;17881721;18029348;18299450;18729074;19946888;20301513;20561090;20811636;21182205;21709606;21890473;21906983;21942715;21963094;21987572;22178446;22268729;22466863;22505724;22797925;23000965;23463506;23862649;24550385;24583282;24816145;25027693;9381176 8653 B4E132;C9J081;C9J8G5;O15523 ABBA01065595;ABBA01065596;AC004474;AC244434;AF000984;AF000985;AK296366;AK302172;AK303176;AK303638;AK307884;AK310382;BC011022;BC034942;CH471155;NG_012831;NM_001122665;NM_004660;XM_005262564;XM_006724877;XM_006724878 AAC51831;AAC51832;AAH34942;BAG59041;BAG63539;BAG64272;BAG64644;EAW91610;EAW91611;NP_001116137;NP_004651;O15523;XP_005262621;XP_006724940;XP_006724941 Hs.99120 1711870;1711872;1732469;1747135;1747137;1747139;1747141;1747143;1747145;1747147;1747149;1747151;1747153;1747155;1791151;1797222;1848303;2108005;2113590;2122518;2190423;2190425;2190427;2190429;2190431;2190433;2190435;2190437;2190439;2190441;2190443;2190445;2190447;2190451;2190467;5017991;5017993;5022837;5022839;5092364;5095217;5095219;5095221;5095223;5095225;5095227;5095229;5095231;5095233;5095235;5095237;5095239 DDX3Y;DDX3Y-1;DDX3Y-10;DDX3Y-11;DDX3Y-12;DDX3Y-13;DDX3Y-14;DDX3Y-15;DDX3Y-16;DDX3Y-17;DDX3Y-2;DDX3Y-3;DDX3Y-4;DDX3Y-5;DDX3Y-6;DDX3Y-7;DDX3Y-8;DDX3Y_8842;DYS66;G34990;G38346;G49468;G49469;G49470;G65234;G65235;G65236;G65237;G65238;G65239;G65240;G65242;G65243;G65244;G65245;M240;M241_M242;M243_M244;M245_M246;M247_M248;M249;M250;M251_M252;M253_M254;M255_M256_M257;M258;M259;M260;M261;M264;Y_M242;sY1234 DBY ATP-dependent RNA helicase DDX3Y;DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked;DEAD box protein 3, Y-chromosomal;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome;OTTHUMP00000034504;OTTHUMP00000034505 APPROVED protein-coding ENSG00000067048 HGNC:2699 02452 400010 REVIEWED 1318770 DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 5 5 5 p15.2-p13.1 51987565 52066696 + 55033845 55112975 + 55738017 55817147 + 1580863;6480464 10920202;11850529;12477932;14648869;14702039;14736746;15489334;16344560;17486274;17868192;18534994;18729074;18805576;19629140;19937754;20561531;21145461;21987572;22162380;22288104;23315064;24727449 54514 D6RAF5;D6RAT7;D6RBL3;D6RCM4;D6RIB2;H0Y960;H0YBW0;Q9NQI0 ABBA01015750;ABBA01015751;AC016632;AC016639;AF262962;AK093439;AK292417;AK308300;AL137462;AMYH02011319;AY004154;BC030638;BC047455;BC088362;BI559479;CH471123;DB022413;DB051674;DB457419;DB508256;HC006904;KF457906;NM_001142549;NM_001166533;NM_001166534;NM_024415;XM_005248545;XM_005248547 AAF72705;AAF86585;AAH47455;AAH88362;BAF85106;BAG52716;CAB70750;CBH19257;EAW54929;NP_001136021;NP_001160005;NP_001160006;NP_077726;Q9NQI0;XP_005248602;XP_005248604 Hs.223581 1688432;5022775 DDX4;RH92050 MGC111074;VASA DEAD box protein 4;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4;OTTHUMP00000122546;OTTHUMP00000221766;OTTHUMP00000221767;OTTHUMP00000221796;probable ATP-dependent RNA helicase DDX4;vasa homolog APPROVED protein-coding ENSG00000152670 HGNC:18700 05593 605281 VALIDATED 734266 DDX46 DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014] 5 5 5 q31.1 130220831 130294505 + 134094461 134166811 + 134758771 134831121 + 1580863;6480464;6907045;8554872 12234937;12477932;14713954;15302935;15489334;16055720;17081983;17332742;17643375;18029348;18391951;19322201;19454010;19471022;19902070;20360068;21139048;21145461;21252943;21890473;21906983;22365833;22412018;22586326;22939629;23602568;24332808;24816145;8889548;9872452 9879 D6RJA6;H0Y9U3;H0YAD5;Q7L014 AB018344;ABBA01068738;ABBA01068739;ABBA01068740;ABBA01068741;ABBA01068742;ABBA01068743;ABBA01068744;ABBA01068745;AC010301;AF106680;AI003503;AK058058;AK126011;AK291788;AMYH02012252;AMYH02012253;BC012304;BC030755;BC105598;BF244218;BK000565;BU608108;BX647426;CA314463;CB052404;CH471062;KC877118;NM_001300860;NM_014829;NR_125341;XM_005272142 AAD43033;AAH12304;AAI05599;BAA34521;BAF84477;DAA00076;EAW62238;EAW62239;EAW62240;EAW62241;EAW62242;NP_001287789;NP_055644;Q7L014;XP_005272199 Hs.406549 1336242;2155398;2178901;5491796 D5S1766;DDX46;RH16381;RH65840 FLJ25329;KIAA0801;MGC9936;PRPF5;Prp5 DEAD box protein 46;OTTHUMP00000223132;OTTHUMP00000223133;PRP5 homolog;Prp5-like DEAD-box protein;RNA helicase;probable ATP-dependent RNA helicase DDX46 APPROVED protein-coding ENSG00000145833 HGNC:18681 10862 REVIEWED 1312619 DDX42 DEAD (Asp-Glu-Ala-Asp) box helicase 42 This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q23.3 56239688 56284798 + 61851549 61896677 + 63773884 63819317 + 6480464;6907045;8554872 10727850;12234937;12477932;14702039;15345747;15489334;15576338;16009940;16169070;16344560;16397294;17081983;17332742;17643375;18029348;18588927;18781797;19377511;19850743;19946888;20360068;21139048;21832049;22365833;22412018;22586326;22623428;22939629;23940030;24250222;24457600;24515614;24654937;24816145 11325 J3KRE3;J3KRV0;J3KTK9;J3QRI2;Q86XP3 AB036090;ABBA01035319;ABBA01035320;ABBA01035321;AC015651;AF083255;AF147429;AK001964;AK095772;AK096751;AK122737;AK126480;AK292908;AL050096;AL527653;AL545851;AMYH02033779;AMYH02033780;BC008208;BC015505;BC078667;BC093081;BK000566;CH471109;DA440475;NM_007372;NM_203499;XM_006721657 AAC32396;AAH08208;AAH15505;AAH78667;AAH93081;BAC66466;BAF85597;BAG50996;BAG53126;BAG53696;BAG54335;CAB43268;DAA00077;EAW94276;EAW94277;EAW94278;NP_031398;NP_987095;Q86XP3;XP_006721720 Hs.702010 1683645;1686304;1736658;2163682 A007J39;D17S1492E;RH75315;RH80617 DDX42P;FLJ43179;RHELP;RNAHP;SF3B8;SF3b125 ATP-dependent RNA helicase DDX42;DEAD (Asp-Glu-Ala-Asp) box polypeptide 42;DEAD box protein 42;RNA helicase-like protein;RNA helicase-related protein;SF3b DEAD box protein;SF3b125 DEAD-box protein;splicing factor 3B-associated 125 kDa protein;splicing factor 3b, subunit 8 APPROVED protein-coding ENSG00000198231 HGNC:18676 09909 613369 REVIEWED 1322415 DDX49 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN ATP catabolic process (inferred); INTERACTS WITH amiodarone; atrazine; cyclosporin A 19 19 19 p12 18935308 18944265 + 19030484 19039442 + 18919675 18928633 + 1580863;6480464 11790298;12477932;14702039;15057824;15342556;15489334;16169070;16344560;17207965;18976975;20360068;21139048;21988832;22190034;22242598;22939629;24816145;8125298 54555 M0QXD4;M0QZC0;M0R0K1;M0R1S3;Q9Y6V7 ABBA01051298;AC002985;AK001294;AK223294;AK291916;AL110272;AL137702;AMYH02035745;AU148229;BC000979;BC002674;BP252678;BX647408;CH471106;DA136213;HB905800;HB919032;HB926276;HB943136;HB954386;HC963209;HC976441;HC983685;HD000546;HD011796;HH961784;NM_019070;NR_033677 AAB81544;AAH00979;AAH02674;ADQ32774;BAA91606;BAD97014;BAF84605;CAH10707;CAH10729;CBF85090;CBF94524;CBF98080;CBG06329;CBG11847;CBV01569;CBV08044;CBV11600;CBV19851;CBV25361;CBX51365;EAW84758;EAW84759;EAW84760;EAW84761;NP_061943;Q9Y6V7 Hs.143187 1670343;1774950;5491661 MARC_6357-6358:997299583:1;RH11747;SHGC-37004 FLJ10432;R27090_2 DEAD box protein 49;probable ATP-dependent RNA helicase DDX49 protein-coding ENSG00000105671 HGNC:18684 10864 VALIDATED 1322118 DDX50 DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008] 10 10 10 q22.1 63936917 63982475 + 70661034 70706603 + 68901278 68946847 + 1580863;6480464 11790298;11891046;12429849;12477932;15303970;15489334;15635413;16159877;17081983;18029348;18615715;18976975;19946888;20020773;21139048;21145461;21182205;21890473;21907836;21988832;22178446;22751105;22990118;23602568;24457600;24778252;24816145;25027693;8125298 79009 Q9BQ39;S4R3G6;S4R3V4 AB051075;ABBA01019592;ABBA01019593;ABBA01019594;AF334103;AK223297;AK293577;AK301431;AL137423;AL359844;AMYH02023265;AMYH02023266;BC000210;BC000272;BC014263;BC018637;CH471083;NM_024045;XM_005270148 AAH00210;AAH00272;AAH18637;AAK29402;ABM83473;ABM86684;BAD97017;BAG57047;BAG62959;BAM48570;CAB70733;EAW54304;NP_076950;Q9BQ39;XP_005270205 Hs.522984 1335933;1653798;1722903;1768391;5018927 D10S1678;G29242;G60546;RH47526;RH80698 GU2;GUB;MGC3199;RH-II/GuB;mcdrh ATP-dependent RNA helicase DDX50;DEAD box protein 50;OTTHUMP00000019711;RNA helicase II/Gu beta;gu-beta;malignant cell derived RNA helicase;nucleolar protein GU2 APPROVED protein-coding ENSG00000107625 HGNC:17906 09910 610373 REVIEWED 2289773 DDX50P1 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 1 2 2 2 p22.3 32271408 32274128 + 32426567 32429287 + 32201498 32204218 + 11891046 192146 ABBA01074880;AL121653;AMYH02003545;NG_001065 RH-II/GuBp1 pseudo HGNC:18974 INFERRED 2289771 DDX50P2 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 2 3 3 3 152490382 152492687 - 154069705 154072663 - 154351916 154354874 - 11891046 100421328 ABBA01058870;AC092946;AMYH02007944;NG_025643 RH_II/GuBp2 pseudo ENSG00000240048 HGNC:18975 INFERRED 1604977 DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding. [provided by RefSeq, Sep 2011] X X X p22.11 27139644 27141763 + 23018078 23020206 + 22999961 23002089 + 11922625;12477932;12849980;15489334;17028776;17341616;18187620;18388483;20531469;20534591;20932654;20941364;21906983 168400 Q86TM3 ABBA01072132;AC117517;AMYH02039019;AY039237;BC051703;BC067878;CH471074;HC044667;NG_021439;NM_182699 AAH51703;AAH67878;AAK72102;CBH30663;EAW98990;NP_874358;Q86TM3 Hs.434416 CAGE;CT26 DEAD box protein 53;DEAD-box protein CAGE;OTTHUMP00000023054;cancer-associated gene protein;cancer/testis antigen 26;probable ATP-dependent RNA helicase DDX53 APPROVED protein-coding HGNC:20083 06466 REVIEWED 8549230 DDX55P1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 pseudogene 1 12 12 12 p13.2 16807906 16809334 + 11665644 11667072 + 11512710 11514138 + 100129640 ABBA01067822;AC007450;AMYH02026031;NG_021706 pseudo HGNC:49852 INFERRED 1349454 DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane; nucleolus; nucleus; INTERACTS WITH benzene; bisphenol A; dioxygen 17 17 17 q21.1 32795453 32826538 - 35972363 36003493 - 37612318 37643464 - 1580863;6480464;8554872 11124703;11790298;12429849;12477932;14702039;15489334;15635413;16344560;17314511;19471022;19946888;21139048;21145461;21988832;22586326;22678362;22990118;23535730;24457600 11056 B3KM65;Q59H21;Q9Y2R4 AB208938;ABBA01001361;ABBA01001362;AC091199;AC243585;AF077033;AJ010840;AK001245;AK001652;AK025721;AK027425;AK093661;AU132775;AX876326;AX879285;BC006489;BC012557;BC041785;BG777332;BX492013;CH471199;DA356164;NM_001291476;NM_007010;XM_006721650;XM_006725299 AAD27766;AAH41785;BAA91812;BAD92175;BAG50877;BAG51319;CAA09374;CAE89223;CAE90445;EAW57599;EAW57600;EAW57601;NP_001278405;NP_008941;Q9Y2R4;XP_006721713;XP_006725362 Hs.590937 1659166;1699698;1767146;2124004;2218472 DDX52_4690;RH103454;RH47071;SHGC-57650;STS-AA011050 HUSSY19;ROK1 ATP-dependent RNA helicase ROK1-like;DEAD box protein 52;OTTHUMP00000164157;probable ATP-dependent RNA helicase DDX52 protein-coding HGNC:20038 09911 612500 VALIDATED 1345493 DDX5 DEAD (Asp-Glu-Ala-Asp) box helicase 5 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a RNA-dependent ATPase, and also a proliferation-associated nuclear antigen, specifically reacting with the simian virus 40 tumor antigen. This gene consists of 13 exons, and alternatively spliced transcripts containing several intron sequences have been detected, but no isoforms encoded by these transcripts have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q21 56964516 56972623 - 62494374 62503042 - 64498254 64506924 - 1580863;5128512;6480464;6907045 16394250 10648785;10837141;11250900;11279182;11790298;11991638;12101238;12477932;12527917;12595555;12665590;12738788;14702039;15047060;15113910;15298701;15304501;15464984;15489334;15592455;15596820;15635413;15660129;15782174;15840729;15927448;15950181;16055720;16159877;16226712;16230076;16344560;16697732;17011493;17018282;17220478;17267499;17332742;17353931;17361185;17369852;17384675;17540040;17620599;17643375;17696464;17699760;17724023;17765891;17932509;18005418;18029348;18239468;18377426;18457437;18624398;18698352;18781797;18794152;18809582;18829551;18954305;19056867;19171422;19224332;19380743;19454010;19596686;19718048;19738201;19928837;19946888;1996094;19995069;20020773;20022962;20080577;20085707;20124720;20195357;20308691;20360068;20508642;20639865;20663877;20676135;20818423;20856200;20966046;21139048;21145461;21182205;21252943;21343338;21549307;21575865;21853274;21890473;21900206;21900255;21906983;21907836;21942715;21963094;21987572;22053931;22079093;22086602;22118674;22156369;22174317;22178446;22210892;22266867;22268729;22365833;22446626;22476084;22505724;22623428;22640416;22750847;22751105;22810421;22863883;22939629;22944692;22963397;23000965;23022728;23077236;23108395;23125841;23151878;23184937;23254330;23322042;23349811;23443559;23463506;2349099;23602568;23608157;23658844;23741449;23763827;23862649;23874603;24035833;24147044;24244333;24332808;24457600;2451786;24583282;24644279;24816145;25015289;25027693;2762324;7525583;7774924 1655 J3KRX8;J3KRZ1;J3KTA4;J3KTQ4;J3QKN9;J3QLG9;J3QR02;J3QR62;J3QRN5;J3QRQ7;J3QS79;J3QS97;J3QSF1;K7EKV0;P17844;X6RLV5 AB209919;AB451257;AB451382;ABBA01035296;AC009994;AC138744;AC234063;AF015812;AJ010931;AK055995;AK297192;AK297753;AK297905;AK310318;AL133585;AMYH02033792;BC016027;BT006943;BX571764;CH471109;DA191631;NM_004396;X15729;X52104;XM_005257111;XM_006721738;XR_429871;XR_429872 AAB84094;AAH16027;AAP35589;ABM81613;ABM84700;BAD93156;BAG59680;BAG60103;BAG60224;BAG70071;BAG70196;CAA09408;CAA33751;CAA36324;CAE11890;EAW94202;EAW94203;NP_004387;P17844;XP_005257168;XP_006721801 Hs.279806 1647142;1656885;1665121;1699176;1700896;1791322;2189359;2190843 D17S1990;DDX5;MARC_2724-2725:991933343:1;PMC102575P1;RH103168;RH104075;RH11006;WI-22548 DKFZp434E109;DKFZp686J01190;G17P1;HLR1;HUMP68;p68 ATP-dependent RNA helicase DDX5;DEAD (Asp-Glu-Ala-Asp) box polypeptide 5;DEAD box protein 5;DEAD box-5;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD);RNA helicase p68;probable ATP-dependent RNA helicase DDX5 APPROVED protein-coding ENSG00000108654 HGNC:2746 01615 180630 VALIDATED 1354287 DDX54 DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.13 113221967 113250107 - 113594978 113623284 - 113157173 113185479 - 1580863;6480464;8554872 11790298;12429849;12466272;12477932;15489334;15635413;16260042;17081983;18954305;19946888;19953087;21182205;21832049;21988832;22113938;22586326;22751105;22910411;23000965;23149075;23239230;23443559;23602568;24816145 79039 F8VRX4;H0YHH7;H0YHZ9;Q8TDD1 ABBA01019949;AC089999;AF478457;AMYH02027233;AY148094;BC001132;BC001848;BC005848;CH471054;NM_001111322;NM_024072 AAH05848;AAI56670;AAL85336;AAN59978;EAW98039;EAW98040;NP_001104792;NP_076977;Q8TDD1 Hs.506861 1736220 D12S1164E DP97;MGC2835 ATP-dependent RNA helicase DDX54;ATP-dependent RNA helicase DP97;DEAD box RNA helicase 97 kDa;DEAD box helicase 97 KDa;DEAD box protein 54;OTTHUMP00000241842;OTTHUMP00000241869 APPROVED protein-coding ENSG00000123064 HGNC:20084 13129 611665 REVIEWED 1319993 DDX51 DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN ATP catabolic process (inferred); rRNA processing (inferred); FOUND IN membrane; INTERACTS WITH all-trans-retinoic acid; atrazine; hydrogen peroxide 12 12 12 q24.33 132239406 132247147 - 132621139 132628880 - 132136594 132144335 - 6480464 11790298;12477932;14702039;15302935;15489334;17081983;19946888;21697133;21906983;22505724;22586326;23741361;24457600 317781 Q8N8A6 AB593157;ABBA01032794;AC138466;AK097078;AL079273;AMYH02027579;BC012461;BC029279;BC040185;BC063603;CH471054;CR936870;NM_175066 AAH12461;AAH40185;BAC04942;BAJ84089;CAI59782;EAW98543;NP_778236;Q8N8A6 Hs.445168 1662105;1667741;1788978;2147915;2166696;2181889;5014051;5015619;5016478;5037552 D11S3114;D8S2278;D8S2279;FB9F8;G65566;GDB:434012;RH48853;RH78651;SGC30786;STS-AA001424 DKFZp686N2081;MGC42193 ATP-dependent RNA helicase DDX51;DEAD box protein 51;Dead box protein 73D-like;OTTHUMP00000238403 protein-coding ENSG00000185163 HGNC:20082 10865 VALIDATED 1606490 DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 ENCODES a protein that exhibits ATP binding (inferred); helicase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Aganglionic megacolon (inferred); Agenesis of corpus callosum (inferred); Autosomal recessive inheritance (inferred); FOUND IN intracellular; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; cyclosporin A 1 1 1 q32.1 173735739 173761697 - 200609935 200639126 - 200640807 200669998 - 6480464;8699517;7240710;8554872 11076863;11230166;11256614;12477932;15489334;15489336;16381901;16710414;23972372 83479 B7Z5N6;B7ZBU3;B7ZBU4;H0Y6Y1;H0Y7Z8;Q5T1V5;Q5T1V6;Q5T1W1 ABBA01027549;ABBA01027550;ABBA01027551;AK299219;AK307569;AL136611;AL445483;AMYH02002467;BC014183;BC020201;BC041801;BU754283;CH471067;DB483119;NM_001031725;XM_005245519;XM_005245520;XM_005245521;XM_006711562 AAH14183;AAH41801;BAH12972;CAB66546;CAL38329;CAL38423;EAW91318;EAW91319;NP_001026895;Q5T1V6;XP_005245576;XP_005245577;XP_005245578;XP_006711625 Hs.497332 2160259;2164253;2185820 A007K33;SHGC-76142;SHGC-76144 DKFZp564B1023;OFD5;RP11-92G12.2;ZNHIT5 DEAD box protein 59;OTTHUMP00000033840;OTTHUMP00000033841;probable ATP-dependent RNA helicase DDX59;zinc finger HIT domain-containing protein 5 protein-coding ENSG00000118197 HGNC:25360 10893 174300;615464 VALIDATED 1349712 DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6 This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012] 11 11 11 q23.3 115780242 115819622 - 118618472 118661972 - 118747763 118791263 - 1580863;6480464 10319407;10360675;10737800;11839790;12477932;12823589;1394235;14684915;14702039;15489334;1579499;16147992;16344560;16364915;16611246;16699599;16756390;17207965;17353931;17392519;17898068;18378046;18769115;19285948;19297524;19380743;19542561;19560422;19738201;19946888;20020773;20158304;20360068;20392846;20884783;21030982;21110914;21139048;21145461;21383967;21906983;21957497;22022269;22190034;22203041;22268729;22505724;22797925;22836354;22851315;22939629;22951725;22965301;23293030;23305486;23535175;23602568;23826300;23926332;23932921;24001599;24130170;24255178;24457600;24550385;24623418;24768538;24768540;24778252;24816145;25036637;7614484;8816452 1656 B2R858;P26196 ABBA01039696;ABBA01039697;AI265778;AK021715;AK093657;AK313244;AMYH02025651;AMYH02025652;AP002954;AP004609;BC026228;BC039826;BC065007;BF810127;CH471065;D17532;DA993470;HC879394;HD033103;KF510136;KF510139;KF510354;KF511134;NM_001257191;NM_004397;XM_005271417;XM_005271418;Z11685 AAH39826;AAH65007;ADQ32638;BAA04482;BAG36055;CBM42913;CBV35646;EAW67412;EAW67413;NP_001244120;NP_004388;P26196;XP_005271474;XP_005271475 Hs.408461 1342070;1680443;1731821;1731827;1733312;1742539;2116343;2132259;2138159;2142007;2159690;2162044;2218474;5015619;5122418 D11S1371;D11S1375;D11S1930;D11S3114;D11S4104;D11S4963;DDX6;DDX6_4692;GDB:197860;RH65211;SGC30501;SGC31470;SHGC-37225;SHGC-53933;STS-N71584 FLJ36338;HLR2;P54;RCK ATP-dependent RNA helicase p54;DEAD (Asp-Glu-Ala-Asp) box polypeptide 6;DEAD box protein 6;DEAD box-6;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD);OTTHUMP00000232837;OTTHUMP00000232838;oncogene RCK;probable ATP-dependent RNA helicase DDX6 APPROVED protein-coding ENSG00000110367 HGNC:2747 02638 600326 REVIEWED 1323439 DDX55 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been confirmed. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 123683109 123701918 + 124086650 124105482 + 123602077 123620935 + 1580863;6480464 10997877;12477932;15489334;1552844;15635413;18187620;19946888;21139048;21145461;21832049;21906983;23449627;24816145 57696 E7EX41;F5H2I2;F5H5U2;F5H735;Q8NHQ9;Q8TEC9 AB046815;ABBA01060397;AC055713;AC117503;AK074219;AK131442;AK301043;AK307384;AL833756;AMYH02027457;AMYH02027458;BC030020;BC035911;BU619784;CH471054;NM_020936;XM_005253591;XR_242955;XR_242956;XR_242957;XR_429110;XR_429111 AAH30020;AAH35911;BAB13421;BAB85021;BAG62656;CAH56233;EAW98419;EAW98420;EAW98421;EAW98422;EAW98423;NP_065987;Q8NHQ9;XP_005253648 Hs.286173 1673118;1682369;1746405;1766263;1851555;1851557;2106781;2106783;2106785;2118907;5017227 A006F32;G20768;G38154;G64577;GC29S0405;GC29S06;GC29S08;RH98764;SHGC-149620;STS-N26791;WI-12310 FLJ16577;KIAA1595;MGC33209 ATP-dependent RNA helicase DDX55;DEAD box protein 55;OTTHUMP00000239195;OTTHUMP00000239198 APPROVED protein-coding ENSG00000111364 HGNC:20085 13130 REVIEWED 1352368 DDX7 DEAD (Asp-Glu-Ala-Asp) box polypeptide 7 8135819 338453 Q15320 D26528 HGNC:2748 1350251 DDX6P1 DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene 1 6 6 6 p22.1 30903584 30905016 - 29297406 29298838 - 29329629 29331061 - 442192 ABBA01038032;AL662781;AL662857;AMYH02013407;BX005133;BX927232;CR753509;CR759808;NG_021115 DDX6-Lp;DDX6P;bA150A6.3 APPROVED pseudo HGNC:13948 INFERRED 1604355 DDX60 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 ENCODES a protein that exhibits double-stranded DNA binding; double-stranded RNA binding; single-stranded RNA binding; INVOLVED IN positive regulation of MDA-5 signaling pathway; positive regulation of RIG-I signaling pathway; response to virus; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; intermediate filament cytoskeleton; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 4 4 4 q32.3 166467307 166569805 - 169137442 169239958 - 168216291 168318807 - 6480464;8554872 12477932;14702039;18271526;21791617;22505724;8125298 55601 D6R944;H0Y8Z7;H0Y9B2;Q6B0F7;Q8IY21;Q9H616;Q9NXV7 ABBA01070327;ABBA01070328;ABBA01070329;ABBA01070330;AC068989;AC093888;AK000042;AK001649;AK026333;AK223184;AK225191;AK307404;AL137464;AMYH02010472;BC007820;BC020601;BC038115;BC074781;BX648655;CH471056;CQ888129;NM_017631 AAH07820;AAH20601;AAH38115;AAH74781;BAA90901;BAA91809;BAB15451;BAD96904;CAB70751;CAE46197;CAH61673;EAX04806;EAX04807;EAX04808;EAX04809;NP_060101;Q8IY21 Hs.591710 5021228 GDB:312794 FLJ10787;FLJ20035 DEAD box protein 60;OTTHUMP00000220084;probable ATP-dependent RNA helicase DDX60 protein-coding ENSG00000137628 HGNC:25942 07877 613974 VALIDATED 2289775 DDX60L DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like ENCODES a protein that exhibits ATP binding (inferred); helicase activity (inferred); nucleic acid binding (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; paracetamol 4 4 4 q32.3 166607719 166731435 - 169277886 169401665 - 168356735 168480514 - 6480464;8554872 14702039;16344560;18976975;20708005;21139048;21906983;23000965;23251661 91351 D6RB62;D6RBA2;D6RIU1;H0Y8H0;H0Y939;Q5H9U9 ABBA01070330;ABBA01070331;AC079926;AC093888;AK023530;AK023743;AK055595;AK092461;AK096369;AL832950;AMYH02010472;CR933601;DA553350;EB710202;KF457833;NM_001012967;NM_001291510;XM_005263341;XM_005263342;XM_005263343;XM_005263344;XM_005263345;XM_005263346;XM_005263347;XM_005263348;XM_006714408;XM_006714409;XM_006714410;XM_006714411 BAB70966;CAI45925;NP_001012985;NP_001278439;Q5H9U9;XP_005263398;XP_005263399;XP_005263400;XP_005263401;XP_005263402;XP_005263403;XP_005263404;XP_005263405;XP_006714471;XP_006714472;XP_006714473;XP_006714474 Hs.535011 1655445;1672398;1720903;1779826;1785074;1850238;1856090;2121144;5022450 D10S275;D4S2447;D4S269;D4S923;G59280;SHGC-153798;SHGC-154783;SHGC-17368;SHGC-34361 DKFZp781D1175;FLJ13468;FLJ31033;FLJ39050 DEAD box protein 60-like;OTTHUMP00000220185;OTTHUMP00000220186;probable ATP-dependent RNA helicase DDX60-like protein-coding ENSG00000181381 HGNC:26429 VALIDATED 3102883 DDX6P2 DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene 2 13 13 13 q31.1 67768589 67770416 + 86927755 86929582 + 86275493 86277320 + 100130117 ABBA01027293;AMYH02028408;BX088568;FO624990;NG_022972 1742539;2159690 DDX6;GDB:197860 APPROVED pseudo HGNC:37806 INFERRED 733605 DECR1 2,4-dienoyl CoA reductase 1, mitochondrial This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008] 8 8 8 q21.3 87208502 87259149 + 91013580 91064232 + 90001352 90052004 + 1580863;6480464;7240710;8699517 10318788;10497069;11591162;12397064;12477932;1495956;15489334;15531764;15629123;16421571;18029348;18193341;18472006;18568448;1859445;19019082;19027726;19049547;19738201;19773279;20360068;20379614;20877624;21139048;21182205;21832049;22360420;22623428;23446634;24326071;24583282;25027693;7263650;7818482;8300563;8993540;9403065 1666 E5RFV2;E5RGS6;E5RHR1;E5RID6;E5RJD2;E5RJG7;H0YAW3;Q16698 ABBA01037402;AC004612;AF049895;AF069291;AK300069;AMYH02018394;BC105080;BC105082;BC143669;CH471060;KC877265;KF495760;L26050;NG_008042;NM_001359;U49352;U78302;XM_005250808 AAA67551;AAB09423;AAB88724;AAC14671;AAC62233;AAI05081;AAI05083;BAH13204;EAW91662;EAW91663;EAW91664;NP_001350;Q16698;XP_005250865 Hs.492212 1684570;1717677;1768247;1856114;5127129 RH122269;RH17524;RH18400;RH78738;RH99111 DECR;NADPH;SDR18C1 2,4-dienoyl-CoA reductase, mitochondrial;4-enoyl-CoA reductase;OTTHUMP00000225076;OTTHUMP00000225081;short chain dehydrogenase/reductase family 18C, member 1 APPROVED protein-coding ENSG00000104325 HGNC:2753 01959 222745 REVIEWED 1353632 DEDD2 death effector domain containing 2 This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 19 19 19 q13.2 39503547 39522608 - 42702745 42724304 - 42198593 42220152 - 6480464 11741985;11965497;12235123;12477932;12527898;14634625;15146197;15489334;16303743;16344560;18029348;18989622;20211142;22094256;23376921;24250222 162989 M0QXK7;M0QYK9;Q8WXF8 AA635978;ABBA01040841;AC006486;AC010247;AC098778;AF443591;AF457575;AK075328;AK130203;AK307895;AMYH02036142;AY125488;BC013372;BC027930;BM908148;BX374729;BX458265;CH471126;CN373297;CR984238;CT000394;DA821401;DC337066;HY033141;HY033487;NM_001270614;NM_001270615;NM_133328;NR_073046;NR_073047;NR_073048;NR_073049;NR_073050;NR_073051;NR_073052;XM_006723063 AAH13372;AAH27930;AAL48220;AAM10835;AAM95240;BAC11551;EAW57110;EAW57111;EAW57112;NP_001257543;NP_001257544;NP_579874;Q8WXF8;XP_006723126 Hs.515432;Hs.741580 2122940;2180619 A005M44;G31114 FLAME-3 DED-containing protein FLAME-3;DNA-binding death effector domain-containing protein 2;FADD-like anti-apoptotic molecule 3;death effector domain-containing DNA binding protein 2 APPROVED protein-coding ENSG00000160570 HGNC:24450 10868 REVIEWED 1349129 DDX56 DEAD (Asp-Glu-Ala-Asp) box helicase 56 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 7 7 7 p13 44704249 44712982 - 44605016 44614542 - 44565417 44574538 - 1580863;6480464 10749921;11230166;11256614;11593297;11790298;11891046;12429849;12477932;12690205;14702039;15231747;15489334;15635413;16169070;16341674;17353931;19946888;21139048;21145461;21411523;21906983;21987572;21988832;22586326;22925334;23608157;24250222;24457600;24816145;8125298 54606 F8WDT8;F8WEI3;G3V0G3;H7BZN7;H7C3E9;Q9NY93 ABBA01058223;AC004938;AF247666;AJ131712;AK022774;AK125595;AK222662;AK309276;AK315363;AL136700;AMYH02015622;BC001235;BM787430;CA423604;CH236960;CH471128;CR457213;NM_001257189;NM_019082 AAG36876;AAH01235;ABM82141;ABM85324;BAB14238;BAD96382;CAB66635;CAB87992;CAG33494;EAL23752;EAW61093;EAW61094;EAW61095;NP_001244118;NP_061955;Q9NY93 Hs.654762 1680761;1735722;1854810;2161339 D7S2082E;D7S2173E;D7S2312;RH80564 DDX21;DDX26;NOH61 61-kd nucleolar helicase;ATP-dependent 61 kDa nucleolar RNA helicase;DEAD (Asp-Glu-Ala-Asp) box polypeptide 56;DEAD box protein 21;DEAD box protein 56;DEAD-box RNA helicase;OTTHUMP00000159499;OTTHUMP00000207711;OTTHUMP00000207714;nucleolar helicase of 61 kDa;probable ATP-dependent RNA helicase DDX56;putative nucleolar RNA helicase APPROVED protein-coding ENSG00000136271 HGNC:18193 12154 608023 REVIEWED 731970 DEAF1 DEAF1 transcription factor This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 11 11 11 p15.5 572 2180 + 644225 695740 - 644220 695740 - 728204;1580863;6480464;8699517;7240710 9773984 10521432;11427895;11705868;11751867;12477932;15161925;15302935;15489334;16169070;16467535;18561871;18826651;19565498;19668219;20226168;20368287;21076407;21900206;21988832;22321011;22328058;22442688;23080069;23372760;23846693;24726472;8889548;9417089 10522 H0YCH1;H0YCY2;O75398 AB209831;ABBA01015199;ABBA01015200;ABBA01015201;AC131934;AC138374;AF007165;AF049459;AF049460;AF068892;AF068893;AF068894;AF068895;AF068896;AF068897;AK289873;AK291383;AMYH02024147;AMYH02024148;AMYH02024149;AP006284;BC042135;BC053322;BI463261;BM696110;BQ267366;CH471158;FJ985253;HY094363;HY324291;NG_034156;NM_001293634;NM_021008;XR_428838 AAB62704;AAC25714;AAC25715;AAC25716;AAC25717;AAC25718;AAC25719;AAC79676;AAC79677;AAH53322;ACE86447;ACE87123;ACU88060;BAD93068;BAF82562;BAF84072;EAX02370;EAX02371;NP_001280563;NP_066288;O75398 Hs.243994 1725799;1857420;2109225;2117128;2164910;2175808 D11S2273E;DEAF1_9129;G62137;RH12540;SHGC-31847;STS-D51166 MRD24;NUDR;SPN;ZMYND5 OTTHUMP00000229456;OTTHUMP00000229617;deaf-1 related transcriptional regulator (nudr);deformed epidermal autoregulatory factor 1 homolog;nuclear DEAF-1-related transcriptional regulator;suppressin;zinc finger MYND domain-containing protein 5 APPROVED protein-coding ENSG00000177030 HGNC:14677 04027 602635;615828 REVIEWED 1603215 DEF8 differentially expressed in FDCP 8 homolog (mouse) ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN intracellular signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; atrazine 16 16 16 q24.3 75080190 75100010 + 90014560 90034468 + 89948152 89968060 + 6480464;8554872 12477932;14702039;21906983;21963094;8889548 54849 H3BMP4;H3BMT5;H3BNN0;H3BQ81;H3BQH5;H3BQX9;H3BRA7;H3BSH6;H3BT01;H3BT87;H3BTS7;Q6ZN54 ABBA01014119;AC092143;AF289561;AK000193;AK055099;AK095051;AK096485;AK131370;AK225539;AK295880;AK296410;AK303510;AL157465;AMYH02032688;AMYH02032689;BC015482;BC105592;BC130482;BC144038;BM546034;BM712309;BX474773;CH471184;DC332872;NM_001242816;NM_001242817;NM_001242818;NM_001242819;NM_001242820;NM_001242821;NM_001242822;NM_017702;NM_207514;XM_005256316;XM_005256318;XM_006721207;XM_006721208;XM_006721209;XM_006721210 AAH15482;AAI05593;AAL55745;ADR82741;BAA91000;BAC04802;BAD18521;BAG52977;BAG59074;BAG64541;BAH12212;EAW66667;EAW66668;NP_001229745;NP_001229746;NP_001229747;NP_001229748;NP_001229749;NP_001229750;NP_001229751;NP_060172;NP_997397;Q6ZN54;XP_005256373;XP_005256375;XP_006721270;XP_006721271;XP_006721272;XP_006721273 Hs.62771 1684696;1693738 RH65234;SHGC-58808 DEF-8;FLJ20186;MGC104349 OTTHUMP00000176849;OTTHUMP00000245291;differentially expressed in FDCP 8 homolog protein-coding ENSG00000140995 HGNC:25969 07882 VALIDATED 1317434 DEF6 differentially expressed in FDCP 6 homolog (mouse) DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008] 6 6 6 p21.33-p21.1 36819554 36843506 + 35265595 35289548 + 35297818 35321771 + 6480464 12477932;12648457;12651066;12923183;14702039;15023524;16189514;17121847;18029348;18391951;19251698;19393345;19423540;19679060;19946888;20406964;20438785;20546612;21832049;22829599;23088770;24816145 50619 H0Y7V7;Q9H4E7 ABBA01038224;ABBA01038225;ABBA01038226;AJ276095;AK093613;AK314756;AL110182;AMYH02013536;AY241694;BC007702;BC017504;CH471081;NM_022047;Z97832 AAI68373;AAO91767;BAG37294;BAG52743;CAC08450;EAX03821;EAX03822;EAX03823;EAX03824;NP_071330;Q9H4E7 Hs.15476 1690296;1694186;2191287;5491234 AL035190;MARC_17107-17108:1020871549:3;MARC_2875-2876:991933604:3;RH91902 DEF-6;IBP;SLAT;SWAP70L IRF4-binding protein;OTTHUMP00000016251;SWAP-70-like adaptor protein of T cells;differentially expressed in FDCP 6 homolog APPROVED protein-coding ENSG00000023892 HGNC:2760 10869 610094 VALIDATED 1344007 DEC1 deleted in esophageal cancer 1 The function of this gene is not known. This gene is located in a region commonly deleted in esophageal squamous cell carcinomas. Gene expression is reduced or absent in these carcinomas and thus this is a candidate tumor suppressor gene for esophageal squamous cell carcinomas. [provided by RefSeq, Jul 2008] 9 9 9 q32 88551359 88812540 + 117904097 118164923 + 115141818 115402644 + 1580863;7240710;8699517;8554872 10612805;12477932;14702039;15164053;15580306;17943723;19339270;19624270;20379614;20821348;20935061;20975315;21317427;21779800;21829689;22644784;22723347;22728071;22825629;22844531;23180869;23423709;23578198;24100543;24404147;8603412 50514 Q8N2T2;Q9P2X7 AB022761;ABBA01042652;ABBA01042653;ABBA01042654;ABBA01042655;ABBA01042656;ABBA01042657;AK056153;AL355601;AL714001;AL731824;AMYH02021523;AMYH02021524;AMYH02021525;BC030567;BC107103;CH471090;NG_027530;NM_017418 AAH30567;AAI48553;AAI53140;BAA96242;EAW87436;EAW87437;NP_059114;Q9P2X7 Hs.148841 1337150;1339891;1709138;1711064;1759787;1759789;1761911;1764797;1849037;2161492 D9S1776;D9S926;SHGC-145845;SHGC-148364;SHGC-170031;SHGC-170033;SHGC-85730;SHGC-86168;WI-10548;WI-15546 CTS9 OTTHUMP00000021982;candidate tumor suppressor CTS9 APPROVED protein-coding ENSG00000173077 HGNC:23658 16068 133239;604767 VALIDATED 1347707 DEFA10P defensin, alpha 10 pseudogene INTERACTS WITH (+)-catechin 8 8 8 p23.1 6802446 6803418 - 6825663 6826635 - 6968141 6969113 - 15494476 449493 ABBA01007049;AF233439;AMYH02017291;AY746435;NR_029386 Hs.552564 defensin, alpha 10, pseudogene pseudo HGNC:31801 VALIDATED 1319812 DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of immune response. [provided by RefSeq, Jul 2008] 9 9 9 p12 32385259 32456256 - 32455300 32526322 - 32455302 32526324 - 1580863;6480464;6907045;8554872 11002417;11890704;12477932;14702039;15164053;15181474;15208624;15219805;15297736;15370293;15612946;15708988;15737993;15767399;16009940;16116171;16125763;16127453;16153868;16177806;16182584;16188996;16281057;16306043;16585524;16707574;16797201;16946700;17038589;17038590;17053203;17079289;17093192;17182220;17190814;17307033;17392790;17403696;17516545;17541283;17600090;17719635;17878351;17911629;18021446;18214119;18242112;18243112;18250407;18258269;18268020;18428149;18446221;18550535;18617992;18632970;18635538;18636086;18650396;18684960;18724357;18849341;18948594;18977754;18981155;19017631;19044019;19122199;19154402;19164550;19193793;19201382;19211564;19234166;19324880;19374188;19374189;19419966;19454348;19454678;19478455;19484123;19574455;19576794;19591957;19609254;19615405;19620789;19628239;19628240;19631370;19675569;19846522;19859543;19881509;19890046;19893624;19902255;19922606;19948350;19996094;20001730;20007272;20034464;20042593;20071582;20130065;20144762;20167631;20331378;20400512;20403326;20406818;20410276;20434986;20484300;20492658;20511549;20519382;20581823;20595247;20639488;20805493;20818395;20926691;21068236;21084468;21113677;21187441;21203974;21224412;21233210;21245912;21248047;21288362;21292167;21336305;21501829;21632559;21659521;21690088;21691053;21695051;21811588;21835791;21890623;21899695;21903422;21906983;21910972;21947008;21971670;21978001;21979817;22000018;22000019;22020100;22022264;22067459;22114345;22235281;22301134;22301138;22328336;22402283;22430200;22504413;22607805;22629479;22705106;22745133;22776165;22787226;22862800;22908223;22911572;22912574;22915805;22992810;23000965;23055530;23056170;23060457;23063562;23118418;23185463;23209422;23262976;23264040;23284052;23325848;23333445;23388719;23390110;23399697;23434273;23498958;23499489;23592984;23611287;23653683;23671710;23684307;23744645;23772026;23843640;23870315;23950712;23955621;24039580;24131985;24334410;24360797;24366338;24371060;24391215;24399297;24412064;24478431;24478443;24493797;24590070;24604766;24622840;24623417;24706898;24729608;24821782;24850742;24931123;24992036 23586 A2A376;B3KWW1;O95786 AA862613;ABBA01065083;ABBA01065084;ABBA01065085;AF038963;AK023661;AK125989;AK301678;AK315040;AL137608;AL161783;AL353671;AMYH02019408;AMYH02019409;AMYH02019410;BC070029;BC107731;BC132786;BC136610;BX647917;CH471071;DN998145;NM_014314 AAD19826;AAI07732;AAI32787;AAI36611;BAG51213;BAG54273;BAG63151;CAB70840;CAI46068;EAW58547;EAW58548;NP_055129;O95786 Hs.190622 1657785;1659263;1684708;1694666;1721071;1763469;2128357;2161635;2162611 G43514;G59518;RH47960;RH69451;RH78416;SHGC-147173;SHGC-56591;SHGC-57118;SHGC-57421 DKFZp434J1111;DKFZp686N19181;FLJ13599;RIG-1;RIG-I;RIGI;RLR-1 DEAD box protein 58;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide;OTTHUMP00000021185;OTTHUMP00000115910;RIG-I-like receptor 1;RNA helicase RIG-I;probable ATP-dependent RNA helicase DDX58;retinoic acid inducible gene I;retinoic acid-inducible gene 1 protein;retinoic acid-inducible gene I protein APPROVED protein-coding ENSG00000107201 HGNC:19102 13131 609631 REVIEWED 1350464 DEFA1 defensin, alpha 1 Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, Oct 2014] 8 8 p23.1 6835171 6837614 - 6977649 6980092 - 1580863;6480464 10914484;12060767;12378798;12477932;12488509;12492457;12710851;12767998;12823617;12871849;12913926;1339298;1445872;1445873;15208269;15340161;15489334;15620707;15719067;15772169;15944200;16169070;16246847;16700921;16709851;16817779;16837860;17132727;17207965;17448537;17531545;17606342;17635867;17703413;18003664;18191790;18347011;18435932;18472248;18474654;18566229;18616948;18757648;18782756;18957723;19263072;19477909;19640840;19861439;19864642;19897717;19963419;2006422;20097206;20151808;20195543;2019582;20214904;20305815;20360068;20424487;2045096;20502117;20715983;20880148;21139048;21165432;21187770;21333105;21831449;21849484;21861873;21900206;22219625;22270360;22297599;22496447;22733823;22737966;22861387;23011762;23050799;23542712;23682724;23785290;23980110;24024966;24236072;2793180;2917986;2918759;2997278;3174637;3370315;4056036;7873202;8080882;8325384;8476558;8477861;8530462;8915011;9030614;9402371;9444979 1667 P59665 AF200455;AF233439;AF238378;AL036554;AMYH02017291;AW291977;BC069423;BC093791;BC112188;L12690;M21130;M26602;NM_004084;X52053 AAA36382;AAA52302;AAA52303;AAH69423;AAH93791;AAI12189;AAT68878;AAT68879;AAT68880;AAT68883;ABM87797;ABM92162;ABM92163;ADQ32866;CAA36280;NP_004075;P59665 Hs.380781 5106501;5120871;5126845 PMC152639P3;RH71432;STS-N54165 DEF1;DEFA1B;DEFA2;HNP-1;HP-1;HP1;MGC138393;MRS OTTHUMP00000196017;defensin, alpha 1, myeloid-related sequence;defensin, alpha 2;myeloid-related sequence;neutrophil defensin 1 APPROVED protein-coding ENSG00000206047 HGNC:2761 00499 125220 REVIEWED 1345125 DEFA3 defensin, alpha 3, neutrophil-specific Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014] 8 8 p23.1 6873391 6875816 - 7015869 7018294 - 1580863;6480464 10914484;12375270;12477932;12710851;12860195;12871849;12913926;1339298;15004048;15208269;15489334;15616305;15620707;15944200;16700921;16837860;17132727;17214878;17531545;17845323;18003664;18154640;18435932;18472248;18474654;18757648;18957723;19194307;19263072;19363140;19423540;19758174;19864642;2006422;20151808;20195543;20406964;20424487;20438785;20502117;20880148;21187770;21333105;21831449;21861873;22297599;22737966;22861387;23011762;23050799;2917986;2918759;2997278;3174637;4056036;8080882;8325384;8476558;8477861;8530462 1668 P59666;Q6EZE9 ABBA01007049;AF200455;AF238378;AMYH02017298;BC027917;BC119706;CS541827;L12691;M21131;M23281;NM_005217;X13621 AAA35753;AAA52304;AAB57722;AAH27917;AAI19707;AAT68881;AAT68885;ABW03625;CAA31952;CAM91150;NP_005208;P59666 Hs.654448 5106501;5120871;5126845 PMC152639P3;RH71432;STS-N54165 DEF3;HNP-3;HNP3;HP-3;HP3 OTTHUMP00000115439;defensin 3, neutrophil-specific;neutrophil defensin 3;neutrophil peptide 3 APPROVED protein-coding ENSG00000239839 HGNC:2762 05159 604522 REVIEWED 1603418 DEFA11P defensin, alpha 11 pseudogene 8 8 8 p23.1 6854014 6854127 - 6886123 6887011 - 7028601 7029489 - 15494476;15588320 724068 ABBA01007049;AF238378;AMYH02017298;AY746436;KC877216;NR_073421 Hs.690600 DEFAP3 pseudo ENSG00000234178 HGNC:33354 VALIDATED 731723 DEDD death effector domain containing This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q23.3 134157929 134169640 - 161090767 161103192 - 161120977 161132783 - 734998;6480464 9774341 11741985;11753564;11965497;12235123;12477932;12527898;14702039;15489334;15688372;16710414;17353931;19615732;20070122;20195357;20211142;20553715;21832049;21890473;21988832;22719072;9832420 9191 B1AQP5;B4DKM1;O75618;V9GY27 ABBA01016598;ABBA01016599;AF043733;AF064605;AF083236;AF100341;AJ010973;AK001497;AK022531;AK296629;AL591806;AMYH02002031;BC013910;BC016724;BG565440;CH471121;CR536556;NM_001039711;NM_001039712;NM_032998;XM_005245597;XM_005245598;XM_005245599;XM_005245600 AAC17110;AAC33105;AAC80280;AAD16414;AAH13910;AAH16724;ADZ15864;BAG51086;BAG59233;CAA09445;CAG38793;EAW52648;EAW52649;EAW52650;EAW52651;EAW52652;EAW52653;NP_001034800;NP_001034801;NP_127491;O75618;XP_005245654;XP_005245655;XP_005245656;XP_005245657 Hs.744092 1793346;2139804;2174889;2218476;5022687 D1S3564;DEDD;DEDD_4693;PMC21147P1;WI-12338 CASP8IP1;DEDD1;DEFT;FLDED1;KE05 DEDPro1;FLDED-1;OTTHUMP00000031821;OTTHUMP00000031822;death effector domain-containing protein;death effector domain-containing testicular molecule APPROVED protein-coding ENSG00000158796 HGNC:2755 06022 606841 REVIEWED 1353794 DEFA4 defensin, alpha 4, corticostatin Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014] 8 8 8 p23 6770132 6772573 - 6793345 6795786 - 6935823 6938264 - 1580863;6480464 12477932;15616305;15620707;17088326;17132727;19135873;19194307;19363140;19423540;20016407;20056178;20237496;20406964;20438785;20727496;21734341;23050799;2500436;2501794;2843187;8469233 1669 P12838 ABBA01007049;AC247054;AF200455;AF233439;BC093959;BC106747;BC112091;BU616655;CH471153;CS541829;DN998607;NM_001925;U18745;X65977 AAA64488;AAH93959;AAI06748;AAI12092;AAT68877;CAA46792;CAM91151;EAW80486;NP_001916;P12838 Hs.591391 1760141;2143881 D8S1918;SHGC-132038 DEF4;HNP-4;HP-4;HP4;MGC120099;MGC138296 OTTHUMP00000115440;corticostatin;defensin, alpha 4, preproprotein;neutrophil defensin 4 APPROVED protein-coding ENSG00000164821 HGNC:2763 03099 601157 REVIEWED 735964 DECR2 2,4-dienoyl CoA reductase 2, peroxisomal ENCODES a protein that exhibits 2,4-dienoyl-CoA reductase (NADPH) activity; receptor binding; trans-2-enoyl-CoA reductase (NADPH) activity; INVOLVED IN unsaturated fatty acid biosynthetic process; FOUND IN peroxisomal membrane (inferred); INTERACTS WITH 2-methylcholine; cyclosporin A; methyl methanesulfonate 16 16 16 p13.3 652405 662884 + 451858 462487 + 401858 412487 + 1580863;6480464 10811639;11157797;11514237;12477932;14702039;15489334;15616553;17081983;17207965;19027726;19953087;20178365;21832049;21988832;22002062;23314748;24250222;8125298 26063 G3V0I9;H7C078;Q4VXZ8;Q9NUI1 ABBA01030374;AE006463;AJ293009;AK055839;AK094340;AK128012;AK225961;AL023881;AL442076;AMYH02031194;BC010740;BC011968;BC030226;CH471112;NM_020664 AAH10740;AAH11968;AAK61231;ADQ31635;BAC87232;CAC05664;CAC09442;EAW85811;EAW85812;EAW85813;EAW85814;EAW85815;EAW85816;NP_065715;Q9NUI1 Hs.628831 1659835;1712072;1804340;1807356;1807562;1807694;1807898;1816550;1825354;1837030;1842202;1843596;2049388;2049390;2049392;2049394;2049396;2049398;2049400;2049402;2049404;2049406;2049408;2049410;2049412;2049414;2049416;2049418;2049420;2049422;2049424;2049426;2049428;2049430;2049432;2049434;2049436;2049438;2049440;2049442;2049444;2049446;2049448;2049450;2049452;2049454;2049456;2049458;2049460;2049462;2049464;2049466;2049468;2104748;2104750;2104752;2104754;2104756;2104758;2109227;2151594;2167736;5115107 Cda1cf03;DECR2_9453;ECD03094;ECD04649;ECD04753;ECD04820;ECD04924;ECD09317;ECD13783;ECD19679;ECD22304;ECD23008;G06857;G54084;REN95838;REN95839;REN95840;REN95841;REN95842;REN95843;REN95844;REN95845;REN95846;REN95847;REN95848;REN95849;REN95850;REN95851;REN95852;REN95853;REN95854;REN95855;REN95856;REN95857;REN95858;REN95859;REN95860;REN95861;REN95863;REN95864;REN95865;REN95866;REN95867;REN95868;REN95869;REN95870;REN95872;REN95873;REN95874;REN95875;REN95876;REN95877;REN95878;REN95879;REN95880;RH11550;RH70775;stSG609100;stSG609102;stSG609103;stSG609104;stSG609105;stSG609107 PDCR;SDR17C1 2,4-dienoyl-CoA reductase 2;2-4-dienoyl-coenzyme a reductase 2, peroxisomal;OTTHUMP00000045513;OTTHUMP00000067571;peroxisomal 2,4-dienoyl-CoA reductase;short chain dehydrogenase/reductase family 17C, member 1 protein-coding ENSG00000242612 HGNC:2754 16789 615839 VALIDATED 1343817 DEFA6 defensin, alpha 6, Paneth cell-specific Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014] 8 8 8 p23.1 6759313 6760691 - 6782216 6783598 - 6924694 6926076 - 1580863;6480464 12477932;15489334;15613481;15616305;16341674;17088326;17132727;17207965;19135873;19194307;19250512;19423540;20237496;20406964;20438785;20979654;21672195;21734566;21832049;21873175;22722251;23028900;8417977;8626737;8808285 1671 Q01524 ABBA01007049;AC247054;AF200455;AF205406;AF233439;AF314060;BC069667;BC069710;BC069728;BC069769;BC093951;BC093953;BM855691;CH471153;M98331;NM_001926;U33317 AAB59357;AAC50382;AAH69667;AAH69710;AAH69728;AAH69769;AAH93951;AAH93953;AAT68876;ADQ32934;EAW80484;NP_001917;Q01524 Hs.711 2159618;5493351 STS-M98331;UniSTS:485810 DEF6;HD-6 OTTHUMP00000115425;defensin 6;defensin-6 APPROVED protein-coding ENSG00000164822 HGNC:2765 02719 600471 REVIEWED 1347789 DEFA9P defensin, alpha 9 pseudogene 8 8 8 p23.1 6793594 6794467 - 6816811 6817683 - 6959289 6960161 - 15494476;15588320 449492 ABBA01007049;AC247054;AF233439;AY746434;NR_073408 Hs.552565 DEFAP2 defensin, alpha 9, pseudogene pseudo ENSG00000233238 HGNC:31800 VALIDATED 1354414 DEFB103A defensin, beta 103A INVOLVED IN defense response to bacterium (inferred); innate immune response (inferred); positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (inferred); FOUND IN extracellular region (inferred); Golgi lumen (inferred); INTERACTS WITH phenobarbital; benzo[a]pyrene (ortholog); pirinixic acid (ortholog) 8 8 p23.1 7738726 7740105 + 7881204 7882583 + 6480464 11085990;11223260;11714836;11741980;20404083;20483368;20615218;20618959;20970965;21071608;21122132;21280982;21442129;21520074;22384213;22951718;23194186;23511030;23659571;23776172 414325 P81534 AB037972;ABBA01148564;AC130365;AF217245;AF252830;AF285443;AF295370;AF301470;AF516673;AJ237673;AMYH02017345;AY785153;EU918408;NM_001081551 AAF73853;AAG02237;AAG22030;AAI48675;AAM62424;AAV41025;ACK99045;BAB40572;CAC03097;NP_001075020;P81534 Hs.283082;Hs.637221 5492943 UniSTS:483325 BD-3;DEFB-3;DEFB103;DEFB103A;DEFB3;HBD3;HBP-3;HBP3;hBD-3 beta-defensin 103;beta-defensin 103B;beta-defensin 3;defensin, beta 103;defensin, beta 3;defensin-like protein APPROVED protein-coding ENSG00000176797 HGNC:15967 606611 VALIDATED 1345754 DEFA5 defensin, alpha 5, Paneth cell-specific Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014] 8 8 8 p23.1 6879990 6881416 - 6912829 6914259 - 7055307 7056737 - 1580863;6480464 12021776;12477932;12660734;1429669;15489334;15616305;16341674;17088326;17132727;17207965;17250830;18191790;18258845;18394979;18435932;18499668;18635180;18782756;19080508;19135873;19194307;19250512;19423540;19542459;19589339;19640840;19855381;20130047;20237496;20375624;20406964;20438785;20452482;20629326;20673868;20819643;21125297;21672195;21734566;21873175;21988832;22354633;22573326;23028850;23269786;23620768;23841778;23958301;24086683;24165598;24198413;24681099;8626737;8808285;9169779;9588893 1670 Q01523 ABBA01007049;AC245425;AF238378;BC069690;BC107079;BM854660;BP419449;CH471153;M97925;NM_021010 AAA35754;AAH69690;AAI07080;AAT68886;ADQ32910;EAW80489;NP_066290;Q01523 Hs.655233 2137239;5493043 RH17763;UniSTS:484029 DEF5;HD-5;MGC129728 HD5(20-94);OTTHUMP00000115441;defensin 5;defensin, alpha 5, preproprotein;defensin-5 APPROVED protein-coding ENSG00000164816 HGNC:2764 02720 600472 REVIEWED 1352494 DEFA7P defensin, alpha 7 pseudogene 8 8 8 p23.1 6863967 6864137 - 6896003 6896961 - 7038481 7039439 - 15494476;15588320;19194307 724067 ABBA01007049;AC245425;AF238378;AY746432;KF458676;NG_005908 AAT68882 Hs.690601 DEFA7 pseudo HGNC:31798 INFERRED 1349881 DEFA8P defensin, alpha 8 pseudogene 8 8 8 p23.1 6784553 6789132 - 6808248 6809121 - 6950726 6951599 - 15494476;15588320 449491 ABBA01007049;AC247054;AF195487;AF233439;AY746433;NR_073407 Hs.627154 DEFAP1 defensin, alpha 8, pseudogene pseudo ENSG00000223629 HGNC:31799 VALIDATED 737379 DEFB1 defensin, beta 1 Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 6705523 6712945 - 6728097 6735529 - 6870575 6878007 - 4892265;4892263;4892269;4892271;4892247;4892248;4892251;4892256;4892259;4892260;1331523;4892249;4892254;2312491;4892250;4892257;4892262;6480464 11340353;11829455;11934727;14521940;15463886;15569478;15696078;15820309;16435024;16700921;16740310;17000097;17076783;17960157;18699806;20193032;21077791 10213993;10223729;10338476;10456939;10521347;10879797;11023262;11148522;11442756;11453504;11486002;11714914;11741980;12010514;12054642;12149255;12153515;12381917;12477932;12517831;12537649;12695553;12727027;12728165;12860195;14703118;14707135;15242954;15317821;15322010;15382127;15383276;15489334;15829297;16512757;16572527;16741514;16984277;17071614;17108702;17187760;17207965;17361499;17415576;17508030;17760820;17921115;18059266;18346877;18397186;18433872;18452706;18511430;18566581;18614876;18627502;18717821;18817538;18840281;18938660;18991164;19080508;19118900;19135873;19141978;19194307;19336370;19390326;19423540;19460328;19477909;19516112;19590686;19702947;19706017;19741426;19789190;19811257;19829306;19954367;20016407;20056178;20060856;20128731;20237496;20305815;20371866;20406964;20438785;20452482;20526610;20618470;20618959;20650771;20673868;20720450;20858604;21087323;21122132;21248850;21280982;21520074;21551252;21631237;21818276;21843332;21900206;21983064;22050386;22059360;22102811;22159483;22269973;22323338;22384213;22386945;22391815;22444247;22522766;23028900;23046822;23150110;23185513;23194186;23204181;23592000;23712061;23971939;24124699;24139179;24356550;24564045;7628632;7667395;8889548;9038346;9070620;9268634;9541493;9875146 1672 P60022;Q86SQ8 AB102694;ABBA01007051;AC247054;AF205406;AF233439;BC033298;BC047677;BM673094;CH471153;KC877213;NM_005218;U50930;U50931;U73945;X92744;Z50788 AAB49758;AAC51728;AAH33298;AAH47677;ADQ33019;BAC56888;CAA63405;CAA90650;EAW80482;NP_005209;P60022 Hs.32949 1649109 RH71318 BD-1;BD1;DEFB-1;DEFB101;HBD1;MGC51822 OTTHUMP00000159500;beta-defensin 1;beta-defensin-1;defensin beta 1 APPROVED protein-coding ENSG00000164825 HGNC:2766 03634 602056 REVIEWED 3497520 DEFA1B defensin, alpha 1B Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] 8 8 p23.1 6854288 6856724 - 6996766 6999202 - 6480464 10914484;12477932;12860195;1339298;1445872;1445873;15340161;15489334;15616305;15944200;17452329;18083107;19169650;19199708;2019582;2917986;2918759;2997278;3174637;3370315;4056036;8325384;8477861;8530462 728358 P59665 AF200455;AF238378;AX405718;HY073456;HY252327;NM_001042500;NM_001302265 AAT68875;AAT68884;CAD34825;NP_001035965;NP_001289194;P59665 Hs.380781 5106501;5120871;5126845 PMC152639P3;RH71432;STS-N54165 DEFA1;HNP-1;HP-1;HP1 OTTHUMP00000194783;alpha-defensin 1;defensin, alpha 1;neutrophil defensin 1 protein-coding ENSG00000240247 HGNC:33596 REVIEWED 1344017 DEFB105A defensin, beta 105A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105A, represents the more centromeric copy. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 1145 1607 - 7679530 7681360 - 7822008 7823838 - 1580863;6480464 11854508;12193721;12477932;12734011;12916016;15588320;15727258;16033865;19194307;21861459 245908 Q8NG35 AB089180;AC084121;AF540977;AMYH02017339;AMYH02017340;BC128437;BC128438;BC140937;NM_152250 AAI28438;AAI28439;AAI40938;AAI60153;AAN33113;BAC10630;NP_689463;Q8NG35 Hs.381378 BD-5;DEFB-5;DEFB105;DEFB105B OTTHUMP00000195976;beta defensin 5;beta-defensin 105;beta-defensin 5;defensin, beta 105;defensin, beta 5 APPROVED protein-coding HGNC:18087 10871 REVIEWED 1343991 DEFB107A defensin, beta 107A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Jul 2008] 8 8 p23.1 7669242 7673238 - 7811720 7815716 - 1580863;6480464 11854508;12193721;12477932;12734011;12916016;15588320;15727258;16033865 245910 Q8IZN7 AC084121;AC246795;AF540979;AMYH02017339;AY122467;BC137510;BC137513;DQ119826;NM_001037668 AAI37511;AAI37514;AAM93909;AAN33115;AAZ81951;NP_001032757;Q8IZN7 Hs.520874;Hs.713490 BD-7;DEFB-7;DEFB107;DEFB107B OTTHUMP00000195978;beta-defensin 107;beta-defensin 7;defensin, beta 7 APPROVED protein-coding ENSG00000186572 HGNC:18086 REVIEWED 1605472 DEFB104B defensin, beta 104B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104B, represents the more telomeric copy. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 11283 13789 - 7327830 7332604 - 7470308 7475082 - 11481241;11854508;12193721;12734011;12916016;15588320;15727258;16033865;21385545;21879330 503618 Q8WTQ1 ABBA01152677;AC130360;AF252830;AJ314834;BC100848;BC100849;BC100850;BC100851;NM_001040702 AAI00849;AAI00850;AAI00851;AAI00852;CAC85511;NP_001035792;Q8WTQ1 Hs.559507;Hs.745562 BD-4;DEFB-4;DEFB104A;hBD-4 OTTHUMP00000195799;beta-defensin 104;beta-defensin 4;defensin, beta 104 APPROVED protein-coding ENSG00000177023 HGNC:26165 REVIEWED 1604132 DEFB105B defensin, beta 105B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105B, represents the more telomeric copy. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 1 1607 - 7345243 7347073 + 7487721 7489551 + 6480464 11854508;12193721;12477932;12734011;12916016;15588320;15727258;16033865 504180 B2RU30;Q8NG35 AB089180;ABBA01124138;AC134684;AC246795;AF252830;AF540977;BC128437;BC128438;BC140937;NM_001040703 AAI28438;AAI28439;AAI40938;AAN33113;BAC10630;NP_001035793;Q8NG35 Hs.381378 BD-5;DEFB-5;DEFB105A OTTHUMP00000159652;beta-defensin 105;beta-defensin 5;defensin, beta 105 APPROVED protein-coding HGNC:29930 REVIEWED 1604881 DEFB106B defensin, beta 106B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106B, represents the more telomeric copy. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 1 1731 + 7340026 7343909 - 7482504 7486387 - 6480464 11854508;12193721;12734011;12916016;15588320;15727258;16033865 503841 Q8N104 AB089181;AC130360;AC134684;AC246795;AF252830;AF529417;AF540978;AY122466;BC100844;BC100845;BC100846;BC100847;BC110062;BC111688;NM_001040704 AAI00845;AAI00846;AAI00847;AAI00848;AAI10063;AAI11689;AAM93908;AAN33114;AAQ09526;BAC10631;NP_001035794;Q8N104 Hs.511958;Hs.535925 BD-6;DEFB-6;DEFB106A OTTHUMP00000159649;beta-defensin 106;beta-defensin 6;defensin, beta 106 APPROVED protein-coding ENSG00000187082 HGNC:28879 REVIEWED 1344949 DEFB103B defensin, beta 103B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103B, which has broad spectrum antimicrobial activity and may play an important role in innate epithelial defense. [provided by RefSeq, Jul 2008] 8 8 p23 7286410 7287682 - 7428888 7430160 - 1580863;6480464 11076863;11085990;11223260;11523142;11702237;11714836;11741980;12013554;12375270;12477932;12727027;12825122;12840147;12892899;14703118;14714554;14981906;15820309;15829297;15934078;16034119;16634647;16741514;16778986;16818731;16954397;17007044;17015038;17415576;17460726;18006661;18167348;18180295;18345484;18345485;18385759;18452706;18538383;18627502;18711400;18925411;19108000;19194307;19219676;19480463;19554343;19580334;19675119;19702947;19734018;19741426;19995893;20104491;20128731;20385753;20404083;20483368;20483750;20819126;21071608;21387465;21393042;21442129;21464083;21470491;21631237;21809339;21843332;22023339;22035653;22232436;22296408;22364200;22386945;22391815;22418431;22444247;22572817;22704618;22837529;22860513;22951718;23133681;23204181;23499548;23608825;23614747;23659571;23698749;23774076;23790489;23829433;24120511;24579469;24633129 55894 P81534;Q5U7J2 AB037972;AC130360;AC246795;AF217245;AF295370;AF301470;AF516673;AJ237673;AY785153;EU918408;NM_018661 AAF73853;AAG02237;AAG22030;AAM62424;AAV41025;ACK99045;BAB40572;CAC03097;NP_061131;P81534 Hs.283082;Hs.637221 5492943 UniSTS:483325 BD-3;DEFB-3;DEFB103;DEFB103B;DEFB3;HBD-3;HBD3;HBP-3;HBP3 beta-defensin 103;beta-defensin 3;defensin, beta 103;defensin, beta 3;defensin-like protein APPROVED protein-coding HGNC:31702 05968 606611 REVIEWED 1602611 DEFB107B defensin, beta 107B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107B, represents the more telomeric copy. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 1 1206 + 7353368 7366833 + 7495846 7509311 + 6480464 11854508;12193721;12734011;12916016;15588320;15727258;16033865;19194307 503614 Q8IZN7 ABBA01124138;ABBA01184135;AC134684;AC246795;AF540979;AY122467;BC137510;BC137513;DQ119826;NM_001040705 AAI37511;AAI37514;AAI48566;AAI56677;AAM93909;AAN33115;AAZ81951;NP_001035795;Q8IZN7 Hs.520874;Hs.713490 BD-7;DEFB-7;DEFB107A;HsT21816 OTTHUMP00000195800;beta-defensin 107;beta-defensin 7;defensin, beta 107 APPROVED protein-coding ENSG00000198129 HGNC:31918 REVIEWED 1347359 DEFB106A defensin, beta 106A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106A, represents the more centromeric copy. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 1483 1731 + 7682694 7686575 + 7825172 7829053 + 1580863;6480464 11854508;12193721;12477932;12600824;12734011;12916016;15489334;15588320;15727258;16033865;19194307 245909 Q8N104 AB089181;AC084121;AF529417;AF540978;AMYH02017340;AY122466;BC100844;BC100845;BC100846;BC100847;BC110062;BC111688;NM_152251 AAI00845;AAI00846;AAI00847;AAI00848;AAI10063;AAI11689;AAI41478;AAM93908;AAN33114;AAQ09526;BAC10631;NP_689464;Q8N104 Hs.535925 BD-6;DEFB-6;DEFB106;DEFB106B;MGC118938;MGC118939;MGC118940;MGC118941;MGC133011;MGC133012 OTTHUMP00000195977;beta-defensin 106;beta-defensin 6;defensin, beta 106;defensin, beta 6 APPROVED protein-coding ENSG00000186579 HGNC:18088 10872 REVIEWED 1605453 DEFB108P1 defensin, beta 108, pseudogene 1 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred) 8 8 p23.1 7791934 7796292 - 7934412 7938770 - 11854508;12734011 503694 AC130365;AC131269;AF540980;NG_005426 A8MXU0;AAN33116 Hs.583890 DEFB-8;DEFB108;DEFB108A pseudo HGNC:18089 INFERRED 1352811 DEFB104A defensin, beta 104A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 11283 11491 - 7693993 7698764 + 7836471 7841242 + 1580863 11481241;11854508;12193721;12477932;12734011;12916016;15489334;15588320;15727258;15820309;16033865;18515986;19194307;19809410;20039881;20128731;20445567;20483368;20526896;20720450;21385545;21879330;23198942 140596 Q8WTQ1 AC084121;AC130365;AC246795;AJ314834;AJ314835;AMYH02017343;BC100848;BC100849;BC100850;BC100851;NG_033023;NM_080389 AAI00849;AAI00850;AAI00851;AAI00852;AAI60154;CAC85511;CAC85520;NP_525128;Q8WTQ1 Hs.559507 BD-4;DEFB-4;DEFB104;DEFB104B;DEFB4;MGC118942;MGC118944;MGC118945;hBD-4 OTTHUMP00000195979;beta-defensin 104;beta-defensin 4;defensin, beta 104;defensin, beta 4 APPROVED protein-coding ENSG00000176782 HGNC:18115 10870 REVIEWED 1606420 DEFB108B defensin, beta 108B INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH cadmium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q13.4 278 4640 - 71544246 71548608 + 71833200 71837562 + 6480464 11854508;12600824;12734011;19194307 245911 Q8NET1 ABBA01017544;ABBA01017545;AF529416;AMYH02025068;AP002495;AY122468;BX095678;NM_001002035 AAI40260;AAI41634;AAM93910;AAQ09525;NP_001002035;Q8NET1 Hs.555032 BD-8;DEFB-8;hBD-8 OTTHUMP00000236120;beta-defensin 108B;beta-defensin 8;defensin, beta 108, pseudogene 1;defensin, beta 8 protein-coding ENSG00000184276 HGNC:29966 16790 PROVISIONAL 2289882 DEFB108P3 defensin, beta 108, pseudogene 3 8 8 p23.1 11952685 11957044 - 12095176 12099535 - 11854508;12734011 504185 AC130366;NG_007390 pseudo HGNC:26227 INFERRED 4892150 DEFB109P3 defensin, beta 109, pseudogene 3 8 8 p23.1 12008472 12015543 - 12150963 12158034 - 15496913 503838 AC130366;NG_028121 pseudo HGNC:30838 INFERRED 2311618 DEFB109P1B defensin, beta 109, pseudogene 1B INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred) 8 8 p23.1 7170368 7177473 + 7312846 7319951 + 12477932;16033865 641517 Q30KR1 AC243982;AF228730;DQ012013;NR_003668 AAI41502;AAI48782;AAY59749 Hs.616079 DEF109P1B;DEFB109 pseudo ENSG00000206034 HGNC:33469 PROVISIONAL 1348391 DEFB110 defensin, beta 110 locus INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH N-nitrosodiethylamine (ortholog); piperonyl butoxide (ortholog) 6 6 6 p12.3 51532925 51545769 - 49976851 49989694 - 50009138 50021981 - 6480464 11854508;12477932;16033865 245913 Q30KQ9 ABBA01050581;AL138879;AMYH02013712;DQ012014;DQ012015;NM_001037497;NM_001037728 AAI41479;AAI48542;AAI48764;AAI56745;AAY59750;AAY59751;NP_001032586;NP_001032817;Q30KQ9 Hs.571093 DEFB-10;DEFB-11;DEFB111;MGC183056;MGC190230 OTTHUMP00000217775;OTTHUMP00000217776;beta-defensin 10;beta-defensin 11;beta-defensin 110;beta-defensin 111;defensin, beta 10 APPROVED protein-coding ENSG00000203970 HGNC:18091 VALIDATED 2289875 DEFB108P4 defensin, beta 108, pseudogene 4 8 8 p23.1 12198933 12203287 - 12341424 12345778 - 11854508;12734011 503840 ABBA01026873;AC087203;AC244249;NG_007391 pseudo HGNC:30174 INFERRED 2289876 DEFB108P2 defensin, beta 108, pseudogene 2 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred) 8 8 p23.1 7230666 7235022 + 7373144 7377500 + 11854508;12734011;16421571 503837 A8MXU0 AC130360;AC243982;AF252830;AF540980;NG_007389 AAN33116 Hs.583890 pseudo HGNC:30847 INFERRED 1350254 DEFB111 defensin, beta 111 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred) p21 11854508;16033865 245914 AL138879;DQ012015;NM_001037497 AAI48542;AAI56745;AAY59751;NP_001032586;Q30KQ9 Hs.571093 DEFB-11 protein-coding HGNC:18092 18756 4108509 DEFB109P2 defensin, beta 109, pseudogene 2 8 8 p23.1 12295164 12302246 - 12437655 12444737 - 15496913 503839 AC087203;NG_023401 pseudo HGNC:30592 INFERRED 1346729 DEFB113 defensin, beta 113 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); indole-3-methanol (ortholog) 6 6 6 p12.3 51492462 51493410 - 49936390 49937338 - 49968677 49969625 - 6480464 11854508;16033865 245927 Q30KQ7 ABBA01050582;AL138879;AMYH02013712;DQ012017;NM_001037729 AAI41481;AAI53176;AAY59753;NP_001032818;Q30KQ7 Hs.582789 DEFB-13 OTTHUMP00000217778;beta-defensin 113;beta-defensin 13;defensin, beta 13 protein-coding ENSG00000214642 HGNC:18094 PROVISIONAL 1348589 DEFB114 defensin, beta 114 ENCODES a protein that exhibits lipopolysaccharide binding; INVOLVED IN negative regulation of lipopolysaccharide-mediated signaling pathway; FOUND IN extracellular region (inferred) 6 6 6 p12.3 51484077 51487890 - 49928005 49931818 - 49960292 49964105 - 11854508;16033865;20379614;23482568 245928 Q30KQ6 ABBA01050582;AL138879;AMYH02013712;AY122470;DQ012018;NM_001037499 AAI56852;AAM93912;AAY59754;NP_001032588;Q30KQ6 Hs.381372 DEFB-14;DEFB14 OTTHUMP00000217777;beta-defensin 114;beta-defensin 14;defensin, beta 14 protein-coding ENSG00000177684 HGNC:18095 18758 615243 PROVISIONAL 1351953 DEFB115 defensin, beta 115 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH paracetamol 20 20 20 q11.1 26601734 26603702 + 29845467 29847435 + 31257664 31259632 + 6480464 11780052;11854508;16033865 245929 Q30KQ5 ABBA01019310;AL121723;AMYH02036892;DQ012019;NM_001037730 AAI52827;AAY59755;NP_001032819;Q30KQ5 Hs.580793 DEFB-15 OTTHUMP00000214703;beta-defensin 115;beta-defensin 15;defensin, beta 15 protein-coding ENSG00000215547 HGNC:18096 PROVISIONAL 1606419 DEFB119 defensin, beta 119 This gene encodes a member of a family of small secreted proteins. These proteins participate in immune defense against microbial infection. This gene is located in a cluster of similar genes on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] 20 20 20 q11.21 26721214 26734651 - 29964966 29978452 - 31377163 31390649 - 6480464;8554872 11780052;11786250;11790538;11854508;12128228;12477932;12975309;15489334;16710608;19423540;20406964;20438785 245932 Q5GRG0;Q8N690 ABBA01019310;AF479698;AF479699;AL031650;AL121751;AL732301;AMYH02036892;AMYH02036893;AY122472;AY122473;AY358860;AY501001;BC062212;BI460707;BU561156;CH471077;HY035342;NM_001271209;NM_153289;NM_153323;NR_073151;NR_073152;NR_073153 AAH62212;AAM93914;AAM93915;AAQ05837;AAQ05838;AAQ89219;AAS87295;EAW76448;EAW76449;EAW76450;EAW76451;NP_001258138;NP_695021;NP_697018;Q8N690 Hs.516998;Hs.743655 1685285;2167340 RH66091;SHGC-31330 DEFB-19;DEFB-20;DEFB120;ESC42-RELA;ESC42-RELB;MGC71893 OTTHUMP00000030520;OTTHUMP00000030523;OTTHUMP00000030524;beta-defensin 119;beta-defensin 120;beta-defensin 19;beta-defensin 20;defensin, beta 120;defensin, beta 19;defensin, beta 20 APPROVED protein-coding ENSG00000180483 HGNC:18099 10873 REVIEWED 1354400 DEFB122 defensin, beta 122 (pseudogene) 20 20 20 q11.21 26759295 26773216 + 30009242 30016983 - 31421439 31429180 - 11854508;15772680 245935 ABBA01019310;AL121751;AMYH02036894;AY122474;NR_045677 Hs.526624 1651319 Z94518 DEFB-22;DEFB122P pseudo ENSG00000204547 HGNC:18102 VALIDATED 1344787 DEFB116 defensin, beta 116 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH cadmium atom (ortholog); ciguatoxin CTX1B (ortholog); paracetamol (ortholog) 20 20 20 q11.21 26647281 26652654 - 29891015 29896388 - 31303212 31308585 - 6480464 11780052;11854508;16033865 245930 Q30KQ4 ABBA01019310;AL031650;AMYH02036892;DQ012020;NM_001037731 AAI48546;AAI53135;AAY59756;NP_001032820;Q30KQ4 Hs.580703 DEFB-16 OTTHUMP00000214704;beta-defensin 116;beta-defensin 16;defensin, beta 16 protein-coding ENSG00000215545 HGNC:18097 PROVISIONAL 1344518 DEFB118 defensin, beta 118 This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded protein binds to sperm and exhibits antibacterial activity. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Dec 2010] 20 20 20 q11.21 26712675 26717411 + 29956421 29961726 + 31368618 31373923 + 1580863 10588992;11564719;11780052;11854508;12477932;12600824;15033915;15489334;15755028;19423540;20237496;20406964;20438785 117285 Q96PH6 ABBA01019310;AF347073;AF529415;AL031650;AMYH02036892;AY122471;BC035677;BC117378;CH471077;NM_054112 AAI17379;AAL27987;AAM93913;AAQ09524;ADR83460;EAW76452;EAW76453;NP_473453;Q96PH6 Hs.274124 C20orf63;DEFB-18;ESC42;ESP13.6;dJ1018D12.3 OTTHUMP00000030515;beta-defensin 118;beta-defensin 18;defensin, beta 18;epididymal secretory protein 13.6;epididymus specific clone 42 APPROVED protein-coding ENSG00000131068 HGNC:16196 09629 607650 REVIEWED 1353566 DEFB112 defensin, beta 112 INVOLVED IN defense response to bacterium (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH N-nitrosodiethylamine (ortholog); piperonyl butoxide (ortholog) 6 6 6 p12.3 51567362 51572442 - 50011288 50016364 - 50043575 50048651 - 6480464;8554872 11854508;16033865 245915 Q30KQ8 ABBA01050581;AL138879;AMYH02013712;AY122469;CH471081;DQ012016;NM_001037498 AAI41480;AAI48765;AAM93911;AAY59752;EAX04351;NP_001032587;Q30KQ8 Hs.571092 DEFB-12 OTTHUMP00000217780;beta-defensin 112;beta-defensin 12;defensin, beta 12 protein-coding ENSG00000180872 HGNC:18093 18757 PROVISIONAL 1342634 DEFB125 defensin, beta 125 Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Jul 2008] 20 20 20 p13 163193 172141 + 68351 77296 + 87710 96655 + 1580863;6480464;8554872 11780052;11854508;12477932;12620395 245938 Q8N687 AA935636;ABBA01053738;AF525927;AK311802;AL360078;AMYH02036541;AY122477;BC128195;BC128196;CH471133;CS072337;NM_153325 AAI28196;AAI28197;AAM93918;AAP47220;BAG34745;CAI93475;EAX10689;NP_697020;Q8N687 Hs.380220 DEFB-25;MGC57449 OTTHUMP00000029897;beta defensin 25;beta-defensin 125;beta-defensin 25 APPROVED protein-coding ENSG00000178591 HGNC:18105 REVIEWED 1352229 DEFB117 defensin, beta 117 20 20 20 q11.21 26695439 26704953 + 29948578 29948706 + 31360775 31360903 + 11854508;16033865 245931 Q30KQ3 ABBA01019310;AL031650;AMYH02036892;DQ012021;NG_032981 AAY59757 Hs.580702 DEFB-17 defensin, beta 17 pseudo HGNC:18098 INFERRED 1344288 DEFB121 defensin, beta 121 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH dibutyl phthalate (ortholog); phenobarbital (ortholog); pirinixic acid (ortholog) 20 20 20 q11.1 26748893 26756886 - 29992648 30006314 - 31404845 31418524 - 6480464 11780052;11854508;12477932;15772680 245934 Q5GRF9;Q5J5C9 ABBA01019310;AF479700;AI476463;AL121751;AMYH02036894;AY501000;BC130607;BC130609;NM_001011878;NM_001171832;XM_005260383 AAI30608;AAI30610;AAQ05839;AAS87294;ADR82785;NP_001011878;NP_001165303;Q5J5C9;XP_005260440 Hs.272294 DEFB-21;ESC42-RELC;ESC42RELC OTTHUMP00000214706;beta-defensin 121;beta-defensin 21;defensin, beta 21 protein-coding ENSG00000204548 HGNC:18101 16791 VALIDATED 1352295 DEFB128 defensin, beta 128 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred) 20 20 20 p13 263359 265096 - 168527 170264 - 187886 189623 - 11854508;12477932;16033865;23251661 245939 Q7Z7B8 ABBA01053742;AF525930;AL360078;AMYH02036543;BC140936;NM_001037732 AAI40937;AAP47223;NP_001032821;Q7Z7B8 Hs.516818 DEFB-28;DEFB28;hBD-28 OTTHUMP00000040040;beta-defensin 128;beta-defensin 28;defensin, beta 28 protein-coding HGNC:18106 PROVISIONAL 1347867 DEFB124 defensin, beta 124 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 20 20 20 q11.1 26809503 26817010 - 30053309 30060816 - 31465506 31473013 - 1580863;6480464 11780052;11854508;16033865 245937 Q8NES8 ABBA01019310;AL121751;AMYH02036895;AY122476;DQ119827;NM_001037500 AAI56854;AAM93917;AAZ81952;NP_001032589;Q8NES8 Hs.381373 DEFB-24 OTTHUMP00000214717;beta-defensin 124;beta-defensin 24;defensin, beta 24 protein-coding ENSG00000180383 HGNC:18104 18759 PROVISIONAL 1347595 DEFB129 defensin, beta 129 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Jul 2008] 20 20 20 p13 302755 305357 + 207899 210527 + 227258 229886 + 1580863;6480464;8554872 11780052;11854508;12477932;12600824;12620395;12975309;15489334;17207965 140881 Q9H1M3 ABBA01053743;AF525931;AF529413;AI217663;AL360078;AMYH02036544;AY122480;AY358186;BC070359;CH471133;HC006908;HC044701;NM_080831 AAH70359;AAM93921;AAP47224;AAQ09522;AAQ88553;ADQ32085;CBH19259;CBH30680;EAX10686;NP_543021;Q9H1M3 Hs.112087 1698774;2217248 DEFB129_3641;RH102950 C20orf87;DEFB-29;DEFB29;bA530N10.3;hBD-29 OTTHUMP00000029901;beta defensin 29;beta-defensin 129;beta-defensin 29 APPROVED protein-coding ENSG00000125903 HGNC:16218 10878 REVIEWED 1351347 DEFB109P1 defensin, beta 109, pseudogene 1 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred) 8 8 p23.1 12250793 12257874 - 12393284 12400365 - 11854508;12600824;12734011;16033865 245912 Q30KR1 AC087203;AF540981;NR_024044 Q30KR1 Hs.721640 DEFB-9;DEFB109;DEFB109A pseudo HGNC:18090 PROVISIONAL 1351372 DEFB123 defensin, beta 123 Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. [provided by RefSeq, Jul 2008] 20 20 20 q11.1 26784635 26794282 + 30028411 30038060 + 31440608 31450257 + 1580863;6480464 11780052;11854508;12477932;12975309 245936 Q5GRF8;Q8N688 ABBA01019310;AF479701;AL121751;AMYH02036894;AY122475;AY358859;BC126365;BC126391;CH471077;NM_153324 AAI26366;AAI26392;AAM93916;AAQ05840;AAQ89218;EAW76445;EAW76446;NP_697019;Q8N688 Hs.122509 1697092 RH102028 DEFB-23;ESC42-RELD OTTHUMP00000030522;beta defensin 23;beta-defensin 123;beta-defensin 23;specific to testis and epididymis APPROVED protein-coding ENSG00000180424 HGNC:18103 10874 REVIEWED 1343807 DEFB132P defensin, beta 132, pseudogene 245942 HGNC:18109 1348474 DEFB133 defensin, beta 133 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH cadmium dichloride (ortholog); indole-3-methanol (ortholog); N-acetyl-L-cysteine (ortholog) 6 6 6 p12.3 51469884 51473228 - 49913814 49917157 - 49946101 49949444 - 6480464 16033865 403339 Q30KQ1 ABBA01050583;AL356586;AMYH02013712;AY621330;DQ012023;NM_001166478 AAT51869;AAY59759;NP_001159950;Q30KQ1 Hs.558270;Hs.745543 1785984;2125476 RH37397;SHGC-154126 beta-defensin 133 protein-coding HGNC:31331 VALIDATED 1343760 DEFB127 defensin, beta 127 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Jul 2008] 20 20 20 p13 233022 234638 + 138111 139804 + 157470 159163 + 1580863;6480464 10588992;11780052;11854508;12477932;12620395;12975309;15340161;15489334;17207965;19423540;20237496;20406964;20438785;21145461 140850 Q14DW6;Q9H1M4 AA454191;ABBA01053739;AF525929;AL360078;AMYH02036543;AY122479;AY358796;BC069486;BC109395;BC110085;CH471133;NM_139074 AAH69486;AAI09396;AAI10086;AAM93920;AAP47222;AAQ89156;ADQ32947;EAX10687;NP_620713;Q9H1M4 Hs.99362 5492457 UniSTS:481120 C20orf73;DEF-27;DEFB-27;DEFB27;bA530N10.2;hBD-27 OTTHUMP00000029900;beta defensin 27;beta-defensin 127;beta-defensin 27 APPROVED protein-coding ENSG00000088782 HGNC:16206 10877 REVIEWED 1343551 DEFB131 defensin, beta 131 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 p16.1 9950821 9956935 + 9446260 9452240 + 9444534 9450514 + 6480464 11854508;12600824;16033865;18976975 644414 P59861 ABBA01032500;AC116655;AF529414;AMYH02008736;NM_001040448 AAI60155;AAQ09523;NP_001035538;P59861 Hs.590200 DEFB-31 OTTHUMP00000217752;beta-defensin 131;beta-defensin 31;defensin, beta 31 protein-coding ENSG00000186146 HGNC:18108 VALIDATED 1350712 DEFB130 defensin, beta 130 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred) 8 8 8 p23.1 11058158 11065484 - 12168471 12175825 - 12310962 12318316 - 11854508;16033865 245940 Q30KQ2 ABBA01026873;AC144830;AC232308;AC244249;DQ012022;NM_001037804 AAI48524;AAI53119;AAY59758;NP_001032893;Q30KQ2 Hs.581979 DEFB-30;DEFB130L OTTHUMP00000213367;beta-defensin 130;beta-defensin 30;defensin, beta 30 protein-coding ENSG00000232948 HGNC:18107 VALIDATED 2302256 DEFB134 defensin, beta 134 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 8 8 8 p23.1 10980841 10983113 - 11851489 11853760 - 11993980 11996251 - 6480464 12477932;16033865 613211 Q4QY38 ABBA01026875;AC107918;AC244249;AY621331;BC130461;BC130463;CH471157;DQ012024;NM_001033019 AAI30462;AAI30464;AAT51870;AAY59760;ADR82792;EAW65639;NP_001028191;Q4QY38 Hs.631852 MGC163333;MGC163335 OTTHUMP00000213325;OTTHUMP00000229351;beta-defensin 134;beta-defensin 135 protein-coding HGNC:32399 PROVISIONAL 1342800 DEFB50 defensin beta 50 14659016 492317 AY387658 HGNC:23165 1352735 DEFB126 defensin, beta 126 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Jul 2013] 20 20 20 p13 218098 221236 + 123194 126392 + 142553 145751 + 1580863;6480464 10491631;11780052;11854508;12477932;12620395;15489334;19423540;20406964;20438785;21775668;22710670;23229569;8125298 81623 Q9BYW3 AA400429;ABBA01053739;AF525928;AJ236910;AK225987;AL360078;AMYH02036543;AY122478;BX108307;CH471133;HC006906;HC044553;NM_030931 AAM93919;AAP47221;CAC27121;CBH19258;CBH30606;EAX10688;NP_112193;Q9BYW3 Hs.124211 1698526 RH102814 C20orf8;DEFB-26;DEFB26;ESP13.2;bA530N10.1;hBD-26 OTTHUMP00000029899;beta defensin 26;beta-defensin 126;beta-defensin 26;epididymal secretory protein 13.2;epididymal secretory protein ESP13.2 APPROVED protein-coding HGNC:15900 10876 REVIEWED 1605783 DEFB132 defensin, beta 132 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH fonofos; parathion; terbufos 20 20 20 p13 333214 336578 + 238377 241737 + 257736 261096 + 6480464 11780052;12477932;12620395;12975309;18343807;18390568;18416833 400830 Q7Z7B7 ABBA01053744;AF525932;AL034548;AMYH02036544;AY358708;AY621329;BC137292;BC137293;BE044548;EF426755;NM_207469 AAI37293;AAI37294;AAP47225;AAQ89071;AAT51868;ABR09864;NP_997352;Q7Z7B7 Hs.516819 2106739 UNQ827__5020 BD-32;DEFB-32;DEFB32;KFLL827;RP5-1103G7.6;UNQ827 OTTHUMP00000040044;beta-defensin 132;beta-defensin 32;defensin HEL-75;defensin, beta 32 protein-coding ENSG00000186458 HGNC:33806 16792 VALIDATED 1345729 DEFQ2P defensin, theta 2, pseudogene 449487 HGNC:30474 1350843 DEFQ5P defensin, theta 5, pseudogene 449479 HGNC:17248 1625102 DEFB4B defensin, beta 4B INVOLVED IN chemotaxis (inferred); defense response to bacterium (inferred); G-protein coupled receptor signaling pathway (inferred); FOUND IN extracellular region (inferred); Golgi lumen (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); all-trans-retinoic acid (ortholog) 8 8 p23.1 7272385 7274354 - 7414863 7416832 - 6480464 10737800 100289462 O15263 AC130360;AC243982;AF252830;BE714502;BE714509;NM_001205266 NP_001192195 Hs.740237 DEFB4P OTTHUMP00000223096;beta-defensin 4B;defensin, beta 4, pseudogene APPROVED protein-coding ENSG00000177257 HGNC:30193 VALIDATED 1348526 DEFQ6P defensin, theta 6, pseudogene 449486 HGNC:26603 1348794 DEFB4A defensin, beta 4A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 1832 1928 + 7752199 7754237 + 7894677 7896715 + 1580863;4892265;4892267;4892264;4892266;4892261;4892262;6480464 10213993;11296379;11934727;15034083;17000097;9843998 10338476;10404637;10456937;10521347;10603376;10837369;10906336;11005092;11442756;11453504;11714836;11714914;11728477;11741980;11751976;11934878;12010514;12063167;12174890;12183584;12381917;12389997;12395153;12411706;12421237;12477932;12488564;12489997;12519391;12522054;12537649;12612195;12710950;12821122;12832046;12892899;12958190;14688115;14703118;14714554;14760942;14963722;14981906;15004048;15013761;15161058;15240151;15382127;15385474;15489334;15502724;15529375;15547668;15661923;15727258;15820309;15829297;15985221;16034119;16097044;16201065;16201312;16219107;16242370;16269090;16319062;16417227;16433908;16741514;16762333;16909382;17000004;17254301;17283097;17298411;17392834;17403538;17415576;17760820;17922409;17928537;17986621;18059266;18362142;18371140;18449938;18452706;18556347;18566581;18578886;18601854;18603327;18627502;18635180;18641349;19056110;19063971;19080508;19121950;19141978;19172136;19194307;19212650;19212651;19233848;19249126;19266104;19412702;19554343;19617917;19702947;19735472;19760202;19809410;19819163;19948723;20006664;20023216;20032992;20068036;20095493;20128731;20154223;20229195;20231411;20378733;20483750;20618959;20629326;20634980;20647256;20650771;20653851;20720450;20724351;20819126;20848773;20980773;21062008;21105373;21122132;21132301;21178014;21248725;21270758;21280982;21328884;21383053;21385545;21394999;21520074;21529380;21631237;21834467;21843332;21913811;21956461;22050386;22093109;22137028;22209221;22296408;22302058;22384213;22386945;22391815;22438960;22444247;22450687;22500651;22537555;22564496;22645023;22739795;22742591;22761444;22837109;22860513;22902431;23194186;23198942;23398087;23466823;23499548;23519334;23548528;23562109;23614747;23625220;23647067;23698749;23734009;23774076;23776172;23819923;23925144;24019264;24077667;24120511;24191013;24307989;24368180;24386991;24564045;24577404;25057107;9202117;9727055;9825219;9831658 1673 O15263 ABBA01156881;AC130365;AC243982;AF040153;AF071216;AJ000152;AMYH02017345;AMYH02017346;BC069285;BC093983;BC093985;BM855542;HY264007;NG_023301;NM_004942;Z71389 AAC33549;AAC69554;AAH69285;AAH93983;AAH93985;CAA95992;CAB65126;NP_004933;O15263 Hs.105924 BD-2;DEFB-2;DEFB102;DEFB2;DEFB4;DEFB4B;HBD-2;SAP1 OTTHUMP00000159651;beta-defensin 2;beta-defensin 4A;defensin, beta 2;defensin, beta 4;skin-antimicrobial peptide 1 APPROVED protein-coding ENSG00000171711 HGNC:2767 03739 602215 REVIEWED 2307453 DEFB136 defensin, beta 136 INVOLVED IN defense response to bacterium (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH paracetamol (ortholog); valproic acid (ortholog) 8 8 8 p23.1 10960843 10961505 - 11831446 11832108 - 11973937 11974599 - 6480464;8554872 11854508;16033865 613210 Q30KP8 ABBA01026875;AC107918;AC244249;AY621333;DQ012026;NM_001033018 AAI48538;AAI53130;AAT51872;AAY59762;NP_001028190;Q30KP8 Hs.558285 1336611 D8S1130 DEFB137 OTTHUMP00000213327;beta-defensin 136;beta-defensin 137 protein-coding ENSG00000205884 HGNC:34433 PROVISIONAL 2312704 DEFT1P2 defensin, theta 1 pseudogene 2 8 8 p23.1 6863803 6866346 - 7006281 7008824 - 11854483;12477932;15944200;17214878;24356550 100287083 AF238378;AF355799;AMYH02017297;BC069283;NR_036687 AAL82194 Hs.681792;Hs.690009 pseudo ENSG00000232039 HGNC:33599 VALIDATED 2307454 DEFB135 defensin, beta 135 INVOLVED IN defense response to bacterium (inferred); FOUND IN extracellular region (inferred) 8 8 8 p23.1 10969157 10971459 + 11839830 11842099 + 11982321 11984590 + 11854508;16033865 613209 Q30KP9 ABBA01026875;AC107918;AC244249;AY621332;DQ012025;NM_001033017 AAI40267;AAI46564;AAT51871;AAY59761;NP_001028189;Q30KP9 Hs.558284 2151175 D8S2061 DEFB136 OTTHUMP00000213326;beta-defensin 135;beta-defensin 136 protein-coding ENSG00000205883 HGNC:32400 PROVISIONAL 1346985 DEFQ4P defensin, theta 4, pseudogene 449485 HGNC:26298 1352357 DEGS2 delta(4)-desaturase, sphingolipid 2 This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008] 14 14 14 q32.2 80667585 80680837 - 100612753 100626012 - 100146416 100166839 - 6480464;6907045;8554872 12477932;15063729;16341674;20677014;21658281;21914808 123099 G3V2F9;Q6QHC5 ABBA01048540;AI380009;AL133523;AMYH02029847;AY541700;BC063598;BM789564;CH471061;NM_206918;XM_006720043 AAH63598;AAS68362;EAW81688;NP_996801;Q6QHC5;XP_006720106 Hs.159643 1336903;1769206 D14S1426;RH47801 C14orf66;DES2;FADS8 DEGS2 {ECO:0000312|HGNC:HGNC:20113};OTTHUMP00000246363;degenerative spermatocyte homolog 2, lipid desaturase;dihydroceramide desaturase 2;sphingolipid C4-hydroxylase/delta 4-desaturase;sphingolipid delta 4 desaturase/C-4 hydroxylase;sphingolipid delta(4)-desaturase 2;sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 APPROVED protein-coding HGNC:20113 13134 610862 REVIEWED 1353061 DEFQ3P defensin, theta 3, pseudogene 449480 HGNC:17250 1347186 DEFT1P defensin, theta 1 pseudogene 8 8 8 p23.1 1 2209 - 6844700 6847243 - 6987178 6989721 - 10521339;11786250;11790538;11854483;12477932;15019196;15588320;20305815;21734341;24819937 170949 Q8TEZ3 ABBA01012421;AF233439;AF355799;AMYH02017291;AMYH02017292;BC069283;NR_036686;U10267 AAL82194 Hs.681792;Hs.690009 DEFQ1;DEFT1 defensin, theta 1 pseudo ENSG00000215378 HGNC:18339 VALIDATED 1349075 DEK DEK proto-oncogene This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 6 6 6 p22.3 19462368 19502747 - 18224400 18264799 - 18224169 18264568 - 1580863;6480464;8554872 10837023;10908574;11058868;11118221;11333257;11546874;11997399;12031912;12140263;12388720;12477932;12483538;12595566;1308167;14574404;14627833;14738146;15146197;15199153;15199154;15238633;15489334;1549122;15563827;15593216;15692740;15722484;15766865;15908448;15987677;16007192;16180235;16254365;16344560;16461319;16603771;16696975;16721057;16809543;16829531;16894028;17030615;17081983;17158748;17361185;17524367;17643375;17685435;18227428;18332104;18477217;19036808;19223548;19229864;19322201;19471022;19563407;19679545;20040570;20215548;20501624;20543864;20669926;21110914;21139048;21145461;21182205;21280010;21316078;21317931;21319273;21460035;21653549;21663673;21693764;21890473;21906983;21907836;21943234;22113938;22145905;22242598;22360505;22390170;22474248;22765016;22863883;22939629;22990118;23000965;23052131;23071688;23455922;23569252;23571382;23902796;24073922;24457600;24563617;24650035;24816145;8910362;9050861;9058666;9684994;9704652;9952027 7913 B4DFG0;D6R9L5;D6RDA2;H0Y8X0;H0Y993;P35659 ABBA01022234;ABBA01022235;AJ270688;AJ420539;AK294079;AK297749;AK298089;AK312616;AL031774;AMYH02013219;AMYH02013220;AU131262;BC012442;BC035259;BQ574048;BX641063;CH471087;CN388433;NM_001134709;NM_003472;X64229;XM_005249391 AAH35259;ABZ92195;BAG35503;BAG57421;BAG60099;BAG60375;CAA45536;CAE46031;EAW55402;EAW55403;NP_001128181;NP_003463;P35659;XP_005249448 Hs.484813 1674510;1849128;2114892;2120184;2176573;2176649 D6S2051;RH46609;SHGC-35904;SHGC-36399;STS-X64229;WI-19135 D6S231E DEK oncogene (DNA binding);OTTHUMP00000016078;OTTHUMP00000221544;OTTHUMP00000221545 APPROVED protein-coding ENSG00000124795 HGNC:2768 00503 125264 REVIEWED 1317405 DENND1A DENN/MADD domain containing 1A Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010] 9 9 9 q33.3 96790158 97339675 - 126141933 126692423 - 123379654 123930138 - 737633;6480464;8554872 12477932 10997877;14702039;15164053;15489334;17081983;17182770;19913121;20154091;20583170;20628086;20691247;21151128;22180642;22504079;22547425;22885925;22902918;23049088;23208300;23517042;23966867;24025145;24086769;24255178;24706793;25015289;8125298 57706 Q8TEH3;Q9HCG4 AB046828;ABBA01043727;ABBA01043728;ABBA01043729;ABBA01043730;ABBA01043731;ABBA01043732;ABBA01043733;ABBA01043734;ABBA01043735;ABBA01043736;ABBA01043737;AC006450;AK024782;AK074151;AK225104;AK295710;AK299867;AL158208;AL161790;AL390774;AL445489;AMYH02021614;AMYH02021615;AMYH02021616;AMYH02021617;BC009616;BC028061;BC039703;BK006958;CH471090;NM_020946;NM_024820;XM_005252109;XM_005252111;XM_005252113;XM_006717195 AAH09616;AAH28061;AAH39703;ADZ16024;BAB13434;BAB15002;BAB84977;BAH12164;BAH13155;DAA12500;EAW87569;EAW87570;EAW87571;EAW87572;EAW87573;EAW87574;EAW87575;NP_065997;NP_079096;Q8TEH3;XP_005252166;XP_005252168;XP_005252170;XP_006717258 Hs.744995 1662853;1677985;1680455;1680805;1695560;1701362;1704222;1721379;1770810;1772875;1786902;1787800;2126265;2144477;2147787;2187489;2187651 AFMb277xd5;D9S2029;G59691;RH104311;RH36501;RH45219;RH45992;RH76528;RH78231;RH94094;RH94250;SHGC-106899;SHGC-173239;SHGC-33874;SHGC-52447;SHGC-68745;SHGC-83135 FAM31A;FLJ38464;KIAA1608;RP11-230L22.3 DENN domain-containing protein 1A;OTTHUMP00000022089;OTTHUMP00000022090;OTTHUMP00000022091;connecdenn;connecdenn 1 APPROVED protein-coding ENSG00000119522 HGNC:29324 17221 613633 VALIDATED 1604979 DENND2C DENN/MADD domain containing 2C ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Rab GTPase activity; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; cadmium atom 1 1 1 p13.2 113356432 113441993 - 115127155 115212732 - 114584575 114670111 - 6480464;8554872 12477932;14702039;15489334;16344560;16710414;23503679;24189344 163259 C9JPG4;Q68D51 ABBA01068464;ABBA01068465;ABBA01068466;ABBA01068467;AK094418;AK124287;AK308302;AL096773;AL133382;AL390241;AMYH02001783;BX647950;BX649075;CH471122;CR749576;DB071246;KF455014;NM_001256404;NM_198459 ACE86694;ACE86695;ACE87378;ACE87379;CAH18369;EAW56605;NP_001243333;NP_940861;Q68D51 Hs.654928 1335786;1691912;1767041;2127462;2190561;5016596;5022651;5024761;7183198;7183200 AL033618;D11S2921;D1S250;EST28B4;GDB:631802;RH36905;SHGC-152684;SHGC-75354 DKFZp686G0351;DKFZp686N1631;DKFZp779P1149;FLJ37099;RP5-1156J9.1;dJ1156J9.1 DENN domain-containing protein 2C;OTTHUMP00000013667;OTTHUMP00000195671 protein-coding HGNC:24748 13425 VALIDATED 1318210 DENND1B DENN/MADD domain containing 1B Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010] 1 1 1 q31.3 170644089 170867541 - 197473878 197744623 - 197504748 197775674 - 737633;6480464;8554872 12477932 11181995;14702039;15342556;16344560;20032318;20154091;20816195;20937701;21102463;21399635;22065758;22977732;23128233;23999434 163486 B3KR95;B7ZBL5;Q6P3S1;X6RAS2 ABBA01027587;ABBA01027588;ABBA01027589;ABBA01027590;AI692985;AK000061;AK024832;AK091207;AK093982;AL139136;AL365258;AL831839;AMYH02002433;AMYH02002434;AMYH02002435;AMYH02002436;AMYH02002437;AMYH02002438;AMYH02002439;BC016588;BC022561;BC063456;BC063877;BC074735;BK006960;BP220095;CH471067;DA495773;H19092;NM_001195215;NM_001195216;NM_001300858;NM_144977;NR_125340;XM_005244931;XM_005244932;XM_005244933;XM_006711192;XM_006711193;XM_006711194;XR_426763 AAH16588;AAH22561;AAH63877;AAH74735;ABM83324;ABM86539;BAA90918;BAB15024;BAG52307;CAD38548;DAA12502;EAW91278;EAW91279;EAW91280;EAW91281;EAW91282;EAW91283;EAW91284;EAW91285;NP_001182144;NP_001182145;NP_001287787;NP_659414;Q6P3S1;XP_005244988;XP_005244989;XP_005244990;XP_006711255;XP_006711256;XP_006711257 Hs.125056;Hs.745032 1656166;1661488;1662001;1691890;1692404;1693468;1696366;1705074;1706848;1709580;1710160;1716305;1752435;1764369;1848932;2130251;2152882;2155075;2156307;2173880;2180053;2182360 AL009933;AL033850;AL033999;D1S1580;D1S2374;G22405;G34825;RH121182;SHGC-106387;SHGC-147965;SHGC-31318;SHGC-57388;SHGC-64057;SHGC-76078;SHGC-76089;SHGC-76091;SHGC-76092;SHGC-77813;SHGC-78059;SHGC-80906;SHGC-82341;SHGC-85144 C1ORF18;C1orf218;DKFZp547O0715;FAM31B;FLJ20054;FLJ21179;FLJ33888;MGC103810;MGC27044;RP11-53I24.2 DENN domain-containing protein 1B;OTTHUMP00000033671;OTTHUMP00000033672;OTTHUMP00000203406;OTTHUMP00000203407;connecdenn 2;family with sequence similarity 31, member B APPROVED protein-coding ENSG00000213047 HGNC:28404 13303 613292 VALIDATED 1345609 DENND1C DENN/MADD domain containing 1C Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1C, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010] 19 19 19 p13.3 6407044 6421624 - 6467218 6481798 - 6467207 6481798 - 737633;6480464;8554872 12477932 14702039;19322201;20154091;21832049;22072793;23648065;8125298 79958 K7EKL5;K7EM30;K7EM80;K7EMN9;K7ENM0;Q8IV53 AA521476;ABBA01051456;AC010503;AK026410;AK055820;AK225623;AK303226;AK303509;AL713770;AL834293;AMYH02035354;BC033437;BE674790;BK006959;BX647304;CH471139;DC378383;NM_001290331;NM_024898;XM_005259646;XM_006722905;XM_006722906 AAH33437;BAB15475;BAG51578;BAG64313;BAH13977;CAD38966;DAA12501;EAW69080;EAW69081;EAW69082;NP_001277260;NP_079174;Q8IV53;XP_005259703;XP_006722968;XP_006722969 Hs.236449 2160977;2167472;2218432 CRB3_4634;L18003;STS-N23258 FAM31C;FLJ22757 DENN domain-containing protein 1C;connecdenn 3;family with sequence similarity 31, member C APPROVED protein-coding ENSG00000205744 HGNC:26225 13304 613634 VALIDATED 1602459 DENND2D DENN/MADD domain containing 2D ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Rab GTPase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 1 1 1 p13.3 109976779 109990260 - 111728591 111747160 - 111185969 111204538 - 6480464;8554872 12477932;14702039;15342556;15489334;16710414;17207965;18677770;20937701;22001757;22939629;23182661;24189587;24317529 79961 B4DWL2;Q9H6A0 ABBA01068396;AK026110;AK057181;AK301583;AL355816;AL713773;AMYH02001726;BC004557;BP270686;CH471122;DA916618;NM_001271833;NM_024901;XM_006710921;XM_006710922;XM_006710923;XM_006710924 AAH04557;ADQ32836;BAB15363;BAG63074;CAD28535;EAW56473;EAW56474;EAW56475;EAW56476;EAW56477;EAW56478;EAW56479;NP_001258762;NP_079177;Q9H6A0;XP_006710984;XP_006710985;XP_006710986;XP_006710987 Hs.557850 1667633;1692526;2163018;2175760;2179969;2184266 AL009389;AL009761;AL033915;RH16359;SHGC-35146;SHGC-75297 FLJ22457;RP5-1180E21.2 DENN domain-containing protein 2D;OTTHUMP00000014298;OTTHUMP00000014299 protein-coding ENSG00000162777 HGNC:26192 08655 615111 VALIDATED 1605117 DEGS1 delta(4)-desaturase, sphingolipid 1 This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010] 1 1 1 q42.11 197561861 197572073 + 224370910 224381143 + 224183208 224193441 + 6480464;6907045 11937514;12477932;16344560;17207965;17283068;17353931;20105137;21890473;21906983;21914808;21963094;21987572;21988832;22377532;22505724;22628619;22797925;23267130;9188692 8560 E7EMA0;O15121 ABBA01009709;AC092809;AF002668;AF466375;AK308232;AMYH02002770;AU126996;AY423730;BC000961;CH471098;NM_003676;XM_006711839 AAB62238;AAH00961;AAM12531;AAS00493;ADQ32348;EAW69711;EAW69712;NP_003667;O15121;XP_006711902 Hs.299878 1699652;2109229;2149309;2163982 DEGS_8831;RH103430;RH67833;SHGC-76416 DEGS;DEGS-1;DES1;Des-1;FADS7;MGC5079;MIG15;MLD OTTHUMP00000035598;cell migration-inducing gene 15 protein;degenerative spermatocyte homolog 1, lipid desaturase;degenerative spermatocyte homolog, lipid desaturase;dihydroceramide desaturase;dihydroceramide desaturase 1;membrane fatty acid (lipid) desaturase;membrane lipid desaturase;migration-inducing gene 15 protein;sphingolipid delta 4 desaturase;sphingolipid delta(4)-desaturase 1;sphingolipid delta(4)-desaturase DES1 APPROVED protein-coding ENSG00000143753 HGNC:13709 13133 615843 VALIDATED 1605083 DENND3 DENN/MADD domain containing 3 ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Rab GTPase activity; cellular protein catabolic process (ortholog); endosome to lysosome transport (ortholog); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 8 8 8 q24.3 138306916 138374104 + 142138720 142205903 + 141128621 141195804 + 6480464;8554872 10048485;10737800;11278422;12477932;14702039;20379614;21502966;21890473;21906983;23251661;24250222 22898 A2RUS2;B3KRG7;E5RH95;E5RHH2;E5RI43;E5RIR7;E5RJ42;E9PF32;H0YAW2;H0YAY3;H0YBH5;H0YBK9 AB020677;ABBA01013683;AC040970;AK057136;AK058001;AK091556;AK123283;AK125506;AK131505;AL110264;AL544320;AMYH02018900;AW500126;BC110827;BC133023;BC144226;BF898211;CB989310;CH471060;NM_014957;XM_005250838;XM_005250839;XM_005250840;XM_005250841;XM_005250842;XM_005250843;XM_005250844;XM_005250845;XR_242384 A2RUS2;AAI33024;AAI44227;BAA74893;BAB71630;BAD18649;BAG52379;EAW92216;EAW92217;EAW92218;EAW92219;EAW92220;NP_055772;XP_005250895;XP_005250896;XP_005250897;XP_005250898;XP_005250899;XP_005250900;XP_005250901;XP_005250902 Hs.18166 1645229;1776196;1852004;1854265;2141513;2141845;2144430;5015961;5019070;5037552 D15S1477;D8S2279;G09322;G29698;G44334;RH16164;RH16253;RH35806;RH48089;SGC33849 KIAA0870 DENN domain-containing protein 3;OTTHUMP00000227447;OTTHUMP00000227448 protein-coding ENSG00000105339 HGNC:29134 11114 VALIDATED 1605273 DENND5B DENN/MADD domain containing 5B ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Rab GTPase activity; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; all-trans-retinoic acid; atrazine 12 12 12 p11.21 11356369 11566294 - 31535157 31743952 - 31382223 31591018 - 6480464;8554872 12477932;14702039;21906983;21963094;22939629;23000965;8889548 160518 F5H4A0;G3V1S3;H0YGE5;Q6ZUT9 AB209341;ABBA01031747;ABBA01031748;ABBA01031749;ABBA01031750;ABBA01031751;AC022080;AC068792;AF086301;AI762929;AI858532;AK021465;AK095598;AK123642;AK125323;AL137364;AL157581;AMYH02026273;AMYH02026274;AMYH02026275;AMYH02026276;AMYH02026277;AMYH02026278;BC020855;BC068580;BF513808;BM676905;BX537924;CH471116;CR749639;NM_144973;XM_005253326;XM_005253327;XM_005253330;XM_006719040 AAH20855;AAH68580;BAC04583;BAC86129;BAD92578;BAG53929;CAD97905;CAH18433;EAW88552;EAW88553;EAW88554;EAW88555;EAW88556;EAW88557;NP_659410;Q6ZUT9;XP_005253383;XP_005253384;XP_005253387;XP_006719103 Hs.118166 1338619;1648063;1654129;1684754;1689777;1698552;1724923;1726053;1726061;1726069;1726921;1739557;1769581;1771823;1779952;1857069;2120474;2136937;2139190;2140568;2169347;5014051;5024761;5037552 D12S1477;D12S1584;D12S1932;D5S2659;D8S2278;D8S2279;G62334;G62351;G62352;G62704;RH102828;RH119228;RH17963;RH36905;RH48070;RH65928;RH66496;RH92710;RH94231;SHGC-154199;SHGC-33611;SHGC-58057;STS-R37651;WI-21216 DKFZp686P1174;FLJ41648;FLJ43333;MGC24039 DENN domain-containing protein 5B;OTTHUMP00000239979;OTTHUMP00000239980;rab6IP1-like protein protein-coding ENSG00000170456 HGNC:28338 11321 VALIDATED 1349929 DENND4A DENN/MADD domain containing 4A ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Rab GTPase activity; FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; cisplatin 15 15 15 q22.31 42830783 42962381 - 65952954 66084631 - 65660616 65792293 - 737633;1580863;6480464 12477932 12080043;12906859;12938929;14702039;15324660;15489334;17353931;17979178;19608861;20139978;20211142;21139048;21906983;23222517;24255178;8056341 10260 H3BSA0;H3BTW5;Q05C90;Q7Z401 ABBA01038840;ABBA01038841;ABBA01038842;ABBA01038843;ABBA01038844;ABBA01038845;AC011939;AF534403;AK091268;AK091368;AK290292;AK299570;AK307411;AL832602;AL833317;AL833384;AMYH02030631;AMYH02030632;AMYH02030633;AMYH02030634;BC028057;BC041706;CH471082;NM_001144823;NM_005848;X63417;XM_005254119;XM_005254120;XM_005254121;XM_005254122;XM_006720371;XM_006720372 AAH28057;AAH41706;AAQ10514;ABZ92395;BAC03648;BAF82981;BAH13069;CAA45013;CAD89960;EAW77745;NP_001138295;NP_005839;Q7Z401;XP_005254176;XP_005254177;XP_005254178;XP_005254179;XP_006720434;XP_006720435 Hs.654567 1341891;1730333;1759699;1782046;1855788;2107231;2130898;2158101;2191207 A003P32;A007D12;D15S1020;D15S141E;IRLB__7454;MARC_16169-16170:1018630743:1;RH44519;SHGC-151256;SHGC-152522 FLJ33949;IRLB;KIAA0476;MYCPBP C-myc promoter-binding protein;DENN domain-containing protein 4A;c-myc promoter binding protein protein-coding ENSG00000174485 HGNC:24321 02662 600382 VALIDATED 1318285 DENND4C DENN/MADD domain containing 4C ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Rab GTPase activity; cellular response to insulin stimulus (ortholog); protein localization to plasma membrane (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (ortholog); insulin-responsive compartment (ortholog); plasma membrane (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; benzo[a]pyrene 9 9 9 p22.1 19216854 19300236 + 19230763 19374137 + 19230765 19374266 + 6480464;8554872 12477932;12906859;14702039;15146197;15164053;16964243;17081983;21139048;21454697;21890473;21906983;21963094;24255178 55667 B7Z660;Q5VZ89;R4GMN2;R4GN35;R4GNB2;X6R5W5;X6RAE7 ABBA01065196;ABBA01065197;ABBA01065198;ABBA01065199;ABBA01065200;ABBA01065201;ABBA01065202;ABBA01065203;AK000627;AK000693;AK001046;AK002020;AK025705;AK125842;AK127734;AK299842;AK302901;AL161909;AL391834;AL834521;AMYH02019262;AMYH02019263;BC144484;BC144485;CH471071;CN427691;CR627367;DV080471;HY106197;NM_017925;NR_073201;XM_006716804;XM_006716805;XM_006716806;XM_006716807 BAA91294;BAA91324;BAA91478;BAA92039;BAB15221;BAC86313;BAG54561;BAH13146;BAH13836;CAD39177;CAH10466;EAW58644;EAW58645;EAW58646;EAW58647;NP_060395;Q5VZ89;XP_006716867;XP_006716868;XP_006716869;XP_006716870 Hs.249591 1686578;1720683;1775887;2126050;5015961 D15S1477;G59157;RH47101;RH80524;WI-12519 C9orf55;C9orf55B;DKFZp686I09113;FLJ20686;bA513M16.3 DENN domain-containing protein 4C;DENN/MADD domain containing 4A pseudogene;OTTHUMP00000038918;chromosome 9 open reading frame 55 protein-coding ENSG00000137145 HGNC:26079 12927 VALIDATED 6481086 DENND5B-AS1 DENND5B antisense RNA 1 12 12 31742857 31768285 + 31589923 31615351 + 16344560 100874249 ABBA01031746;ABBA01031747;AC022080;AMYH02026278;AMYH02026279;AMYH02026280;DA250246;HG504656;NR_046909 Hs.627628 RP11-820K3.5 APPROVED ncrna ENSG00000255867 HGNC:42517 VALIDATED 1606364 DENND6B DENN/MADD domain containing 6B ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Rab GTPase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN endosome (inferred); INTERACTS WITH 2-methylcholine; calcitriol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 22 22 22 q13.33 34626857 34634095 - 50750392 50765517 - 50311963 50327088 - 6480464;8554872 12477932;14702039;15489334;21330364;21832049;8889548 414918 H0Y7N0;Q8NEG7 AA864612;ABBA01011386;AK054743;AMYH02038605;AMYH02038606;BC031069;BI758775;BM981037;BX363595;CH471138;CR559946;CR759740;CR861497;CR861498;CR932343;CR932344;CT009622;NM_001001794;XM_005261914;XM_005261915;XR_430477;XR_430478 AAH31069;CAO03304;CAO03484;CAO03524;CAO03525;CAO03578;CAO03579;CAO03620;CAO03621;EAW73528;EAW73529;NP_001001794;Q8NEG7;XP_005261971;XP_005261972 Hs.530380 AFI1B;FAM116B;MGC33692 DENN domain-containing protein 6B;OTTHUMP00000196617;family with sequence similarity 116, member B APPROVED protein-coding HGNC:32690 17526 VALIDATED 1315914 DEPDC1 DEP domain containing 1 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN negative regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; transcriptional repressor complex; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 1 1 1 p31.2 67230053 67253019 - 68939835 68962799 - 68474152 68497221 - 6480464;8554872 12477932;14702039;16344560;17452976;19322201;20379614;20587513;21139048;21906983;23646139;8125298 55635 E9PL61;H0YES2;Q5TB30 AB281187;AB281274;ABBA01074505;ABBA01074506;AJ278112;AK000361;AK000490;AK022792;AK225735;AK299324;AL138789;AL139413;AL834208;AMYH02001219;BC003511;BC011743;BC035506;BC041580;BC065304;BU588593;CH471059;CS403022;CS403024;DB147703;GM983784;GM983786;NM_001114120;NM_017779 AAH03511;AAH65304;BAA91111;BAA91201;BAB14246;BAF91373;BAF91374;BAH13001;CAB92444;CAH10663;CAL40387;CAL40388;CAX21632;CAX21633;EAX06471;EAX06472;EAX06473;EAX06474;EAX06475;EAX06476;EAX06477;NP_001107592;NP_060249;Q5TB30 Hs.445098 DEP.8;DEPDC1-V2;DEPDC1A;FLJ20354;SDP35 5830484J08Rik;DEP domain-containing protein 1A;OTTHUMP00000010789;OTTHUMP00000010790;cell cycle control protein SDP35 protein-coding ENSG00000024526 HGNC:22949 10879 612002 VALIDATED 1314588 DENND2A DENN/MADD domain containing 2A ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Rab GTPase activity; retrograde transport, endosome to Golgi; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN actin cytoskeleton; INTERACTS WITH 17beta-estradiol; atrazine; copper atom 7 7 7 q34 134940274 135024392 - 140218220 140341285 - 140518420 140641485 - 6480464;8554872 10574462;12477932;15489334;16344560;20379614;20395239;20467438 27147 C9IY76;C9IYZ8;C9JAA0;C9JD15;F8WAT8;H7C5K8;Q9ULE3 AB033103;ABBA01034076;ABBA01034077;ABBA01034078;ABBA01034079;AC006452;AC069335;AK290056;AK297959;AMYH02016906;AMYH02016907;BC049193;BC115004;BC132875;BC144190;CH236950;CH471070;DA401015;NM_015689;XM_005249976;XM_005249977;XM_005249978;XM_005249979 AAH49193;AAI15005;AAI32876;BAA86591;BAF82745;BAG60271;EAW83954;NP_056504;Q9ULE3;XP_005250033;XP_005250034;XP_005250035;XP_005250036 Hs.6385 1655039;5015861;5022450;5022651;5024761;5037552;5109281;5115350;7185938 D10S16;D10S275;D11S2921;D1S1425;D8S2279;IB3120;RH36905;STS-W87388 FAM31D;KIAA1277 DENN domain-containing protein 2A;OTTHUMP00000212108;OTTHUMP00000212109;OTTHUMP00000212110;OTTHUMP00000212111 protein-coding ENSG00000146966 HGNC:22212 17210 VALIDATED 1351149 DENR density-regulated protein This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 122830180 122848763 + 123237371 123255953 + 122752824 122771406 + 1580863;6480464 10497265;12477932;15489334;16169070;16874301;17207965;17878526;18337751;19322201;20195357;21139048;21890473;22863883;22939629;24816145;9628587 8562 F8VVL1;O43583 AB014731;ABBA01060452;AC026331;AC027290;AF038554;AF103800;AI093093;AK299463;AMYH02027436;BC000925;BC007860;BG705827;BI871385;CH471054;NM_003677 AAC02985;AAF02420;AAH07860;ADQ31604;BAB20268;BAG61429;EAW98338;EAW98339;EAW98340;EAW98341;EAW98342;EAW98343;NP_003668;O43583 Hs.22393 1654998;2149457;5022450;5037552;5109281 D10S275;D12S1311;D1S1425;D8S2279;WI-20552 DRP;DRP1;SMAP-3 OTTHUMP00000239609;OTTHUMP00000239610;smooth muscle cell associated protein-3;smooth muscle cell-associated protein 3 APPROVED protein-coding ENSG00000139726 HGNC:2769 05182 604550 REVIEWED 1344276 DENND4B DENN/MADD domain containing 4B ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Rab GTPase activity; regulation of Rab protein signal transduction; FOUND IN Golgi apparatus; nucleus; INTERACTS WITH paracetamol; trichostatin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q21 126973728 126990904 - 153901977 153919162 - 153929501 153946686 - 6480464 11181995;12906859;14702039;22903471;8325628;9455484 9909 E9PAK5;H0YEF0;O75064 AB007945;ABBA01049459;AK124049;AK129713;AK226053;AL358472;AL512734;AMYH02001912;CH471121;L10375;NM_014856;XM_005245678;XM_005245679;XM_006711690;XM_006711691;XR_426806 AAI67792;BAA32321;EAW53268;EAW53269;NP_055671;O75064;XP_005245735;XP_005245736;XP_006711753;XP_006711754 Hs.744878 1643712;1732305;1788660;1850896;5014019;5015404;5017433;5020946;5020948;5022578;5024413;5118087 D1S1423;D1S961E;D5S2354;G35510;G64270;L17705;L17877;L17971;RH12271;RH12462;RH18158;STS-T76997 DKFZp762N174;FLJ26202;KIAA0476 DENN domain-containing protein 4B;OTTHUMP00000035257;OTTHUMP00000231789 protein-coding ENSG00000198837 HGNC:29044 VALIDATED 1606682 DENND6A DENN/MADD domain containing 6A ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of cell-cell adhesion mediated by cadherin; positive regulation of Rab GTPase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; recycling endosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; cadmium dichloride 3 3 3 p14.3 57624256 57692688 - 57611181 57678816 - 57625454 57693089 - 6480464;8554872 12477932;14702039;16344560;21330364;21906983;22595670 201627 H7C598;H7C5D0;Q8IWF6 AA605125;ABBA01024407;ABBA01024408;ABBA01024409;ABBA01024410;ABBA01024411;AC114480;AK074156;AK092288;AMYH02006872;AMYH02006873;AMYH02006874;AMYH02006875;BC040291;BC054343;CH471055;DB163127;NM_152678;XM_005264943;XM_006713019;XM_006713020;XR_245100 AAH40291;AAH54343;ADZ16072;BAB84982;BAC03852;EAW65345;EAW65346;NP_689891;Q8IWF6;XP_005265000;XP_006713082;XP_006713083 Hs.91085 1680603;1686628;1858331;2133096;5016596;5020242;5024039 D11S2612;D16S325;D3S4043;GDB:631802;RH92703;RH98190;SGC38198 AFI1A;FAM116A;FLJ34969 DENN domain-containing protein 6A;OTTHUMP00000213205;family with sequence similarity 116, member A;hypothetical protein LOC201627 APPROVED protein-coding ENSG00000174839 HGNC:26635 08756 VALIDATED 2289760 DEPDC1P2 DEP domain containing 1 pseudogene 2 9 9 9 q31.2 79025468 79029125 + 108520329 108523986 + 105758048 105761705 + 100126446 ABBA01042813;AL592437;AMYH02021400;NG_007042;NG_032971 FLJ20483 pseudo HGNC:33975 INFERRED 2289757 DEPDC1P1 DEP domain containing 1 pseudogene 1 15 15 15 q13.3 8554009 8558228 + 32056304 32060522 - 31764101 31768339 - 730888 ABBA01038339;AC026951;AC243759;NG_007041 pseudo HGNC:31125 INFERRED 8656167 DEPDC1-AS1 DEPDC1 antisense RNA 1 1 1 68962359 69004310 + 68496676 68538627 + 101927220 ABBA01074505;AL138789;AMYH02001219;AMYH02001220;BC016787;BC020917;LK938593;NR_110671;XR_246341;XR_248794;XR_250758 Hs.382856 ncrna ENSG00000234264 HGNC:50592 VALIDATED 1314052 DEPDC1B DEP domain containing 1B ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); small GTPase mediated signal transduction (inferred); FOUND IN cytosol (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 5 5 5 q12.1 56833846 56936903 - 59892739 59995993 - 60596912 60700166 - 737633;1580863;6480464 12477932 14702039;20923822;21139048;21988832;22990118;24971537 55789 D6RDV9;D6RIB0;Q8WUY9 AA830503;ABBA01015802;ABBA01015803;AC016591;AC109133;AF303178;AF488828;AF490257;AK001166;AK002114;AK290684;AK299242;AK300782;AMYH02011369;BC010904;BC019075;CH471123;DC299445;KF457908;NM_001145208;NM_018369 AAH10904;AAH19075;AAN31126;AAO49477;AAO85465;BAA91529;BAA92089;BAF83373;BAG61273;BAG62446;EAW54998;NP_001138680;NP_060839;Q8WUY9 Hs.482233 1705466;1716975;1740401;1751727;1846991;1846993;2174320;5017811 A005U21;D5S2219E;DEPDC1B;G20508;RH121868;RH65040;SHGC-105711;SHGC-83818 BRCC3;FLJ11252;XTP1 DEP domain-containing protein 1B;HBV X-transactivated gene 8 protein;HBV XAg-transactivated protein 8;HBxAg transactivated protein 1;OTTHUMP00000122605;OTTHUMP00000221973;breast cancer cell 3 protein-coding ENSG00000035499 HGNC:24902 16794 VALIDATED 1315561 DENND5A DENN/MADD domain containing 5A ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Rab GTPase activity; FOUND IN Golgi apparatus (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; acetylsalicylic acid 11 11 11 p15.4 9282225 9408081 - 9160372 9286882 - 9138825 9265335 - 6480464 10470851;12477932;14702039;15489334;19141279;19322201;19762545;21900206;21906983;21963094;22558185;22939629;24250222;7782346 23258 B3KWN5;B4DFB6;E9PIS3;H0YCW5;H0YDE6;H0YDS8;H0YDV6;H0YE63;H0YEA8;Q6IQ26 AB029014;ABBA01061197;ABBA01061198;ABBA01061199;ABBA01061200;ABBA01061201;AC055845;AC079296;AK025499;AK026007;AK091148;AK125444;AK294016;AK295881;AK302478;AL117448;AMYH02024306;AMYH02024307;AMYH02024308;AP006259;BC005100;BC009354;BC018797;BC071596;BX401101;CH471064;DN999250;GN344099;NM_001243254;NM_015213;XM_005252832;XM_006718169;XR_242782 AAH09354;AAH71596;BAA83043;BAB15155;BAG54197;BAG57377;BAG58677;BAG63766;CAB55932;CAY55985;EAW68600;EAW68601;NP_001230183;NP_056028;Q6IQ26;XP_005252889;XP_006718232 Hs.501857 1645569;1666896;1721645;1762297;1764879;2111027;2146152;2146971;2171476;2186720 D11S1272E;D11S2377;D11S4413;D11S4422;D11S4704;G59833;RH18241;SHGC-146144;SHGC-148440;WI-14657 FLJ22354;FLJ33829;FLJ43455;KIAA1091;RAB6IP1 DENN domain-containing protein 5A;OTTHUMP00000230804;OTTHUMP00000230805;OTTHUMP00000230807;RAB6 interacting protein 1;rab6-interacting protein 1 protein-coding ENSG00000184014 HGNC:19344 11475 VALIDATED 1344261 DEPTOR DEP domain containing MTOR-interacting protein INVOLVED IN negative regulation of cell size; negative regulation of protein kinase activity; negative regulation of TOR signaling; PARTICIPATES IN mTOR signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 8 8 8 q24.12 117075022 117252280 + 120885900 121063157 + 119873655 120050918 + 1580863;6480464;6484113;8554872 11076863;11230166;11256614;12477932;14702039;15489336;16344560;16381901;19446321;20169205;20379614;20858096;21643629;21832049;21992080;22017875;22017876;22017877;22087225;22160218;22282237;22454292;23503641;23541542;23563706;23583980;23613505;23881914;23940030;8125298 64798 Q8TB45 ABBA01037826;ABBA01037827;ABBA01037828;ABBA01037829;ABBA01037830;ABBA01037831;ABBA01037832;AC091563;AK022403;AK022490;AK023916;AK225168;AK225675;AK297822;AK315175;AL136678;AMYH02018679;AMYH02018680;AMYH02018681;AMYH02018682;AP005717;BC012040;BC024746;CH471060;DA622978;KF511062;NM_001283012;NM_022783 AAH12040;AAH24746;BAB14054;BAB14723;BAG37616;BAG60159;CAB66613;CAL37454;CAL38211;EAW91997;NP_001269941;NP_073620;Q8TB45 Hs.112981 1688821;1779890;2115885;2156894;2186927 D8S323;RH45620;RH48017;RH91937;SHGC-154090 DEP.6;DEPDC6;DKFZp564B1778;FLJ12341;FLJ12428;FLJ13854 DEP domain containing 6;DEP domain containing mTOR interacting protein;DEP domain-containing mTOR-interacting protein;DEP domain-containing protein 6;OTTHUMP00000228295;OTTHUMP00000228296 APPROVED protein-coding ENSG00000155792 HGNC:22953 13137 612974 VALIDATED 1346784 DERL1 derlin 1 The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 8 8 8 q24.13 120214755 120243831 - 124025404 124054663 - 123013164 123042423 - 1580863;6480464;6907045 11827452;12477932;12975309;14702039;15174051;15215855;15215856;15489334;16055502;16186509;16186510;16289116;16344560;16449189;16449195;16901789;16954204;16968747;17207965;17360537;17453418;17502376;17872946;18029348;18048502;18094046;18199748;18205950;18216283;18227067;18555783;18675248;18811591;18927294;19114714;19121997;19135427;19164805;19275885;19818707;19864457;19946888;20435896;21062743;21139048;21184741;21185345;21186355;21245296;21594788;21832049;21832065;21909096;22238364;22311976;22627700;23306155;23665563;23867461;24089527;24160817;24356957;25030448;8619474;9110174 79139 B4E1G1;E5RGY0;Q9BUN8 AA976062;ABBA01037863;AC104316;AF116708;AF131854;AI755206;AK023846;AK124086;AK303826;AK313675;AMYH02018700;AY358818;BC002457;BC037174;BC050691;CH471060;CQ859802;DA800358;DA906855;HC289752;NM_001134671;NM_024295;XM_006716657 AAF71128;AAH02457;AAQ89177;ADQ31720;BAG36426;BAG54003;BAG64773;CAH25951;CBJ06471;EAW92013;EAW92014;EAW92015;EAW92016;EAW92017;NP_001128143;NP_077271;Q9BUN8;XP_006716720 Hs.241576 1648131;1671127;1675640;1735810;2107377;2186258;5021872;5022651 D11S2921;D8S1422E;MGC3067__7703;RH68084;RH81010;SHGC-64153;STS-F13780;sY3084 DER-1;DER1;FLJ13784;FLJ42092;MGC3067;PRO2577 DERtrin-1;Der1-like domain family, member 1;OTTHUMP00000228362;OTTHUMP00000228364;OTTHUMP00000228366;OTTHUMP00000228367;degradation in endoplasmic reticulum protein 1;der1-like protein 1;derlin-1 APPROVED protein-coding ENSG00000136986 HGNC:28454 12302 608813 REVIEWED 1344289 DERL2 derlin 2 Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008] 17 17 17 p13.2 5393985 5405873 - 5377582 5389520 - 5474285 5486498 - 1580863;6480464;6907045 10810093;11500051;12477932;15215855;15489334;16186509;16449189;16449192;16449194;16912321;17207965;17360537;18216283;19864457;19946888;20435896;20467438;21145461;21832065;21906983;21909096;21963094;22174835;22505724;23097496;23867461;24366871 51009 I3L0R8;I3L1S8;I3L1T3;I3L1W3;I3L3R8;I3L4W7;K7EQE8;Q9GZP9 ABBA01054815;ABBA01054816;AC004148;AF132289;AF151859;AF208065;AF242523;AK024574;AMYH02032859;BC009549;BC010890;CH471108;CR457202;NM_016041;XM_005256672;XM_006721539 AAD34096;AAF99603;AAG43049;AAH10890;AAL14869;ADQ32689;CAG33483;EAW90329;NP_057125;Q9GZP9;XP_005256729;XP_006721602 Hs.286131 2164333 RH18361 CGI-101;F-LAN-1;F-LANa DERtrin-2;Der1-like domain family, member 2;FLANa;OTTHUMP00000128204;carcinoma related;degradation in endoplasmic reticulum protein 2;der1-like protein 2;derlin-2 APPROVED protein-coding HGNC:17943 16796 610304 PROVISIONAL 1349120 DEPDC4 DEP domain containing 4 INVOLVED IN intracellular signal transduction (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; trichostatin A 12 12 12 q23.1 100311307 100326123 - 100597447 100660857 - 100203669 100267079 - 1580863;6480464 12477932;14702039 120863 E9PGM3;H0YI71;H0YIL0;Q3ZCN8;Q8N2C3 ABBA01053259;ABBA01053260;ABBA01053261;AC026110;AC253559;AK090824;BC015117;BC039480;BC100927;BC100928;BC100929;BC100930;CH471054;NM_152317;XM_005268628;XR_245892 AAH15117;AAI00929;AAI00930;AAI00931;BAC03525;EAW97628;EAW97629;NP_689530;Q8N2C3;XP_005268685 Hs.653118 1650044;2150690 D12S2127;D12S2146 DEP.4;FLJ33505 DEP domain-containing protein 4;OTTHUMP00000243479;OTTHUMP00000243481;OTTHUMP00000243485 protein-coding ENSG00000166153 HGNC:22952 13136 PROVISIONAL 1353725 DERL3 derlin 3 The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] 22 22 22 q11.23 8015749 8020256 - 24176690 24181430 - 23834503 23839087 - 737633;1580863;6480464;6907045 12477932 10591208;14702039;15215855;15461802;15489334;16341674;16449189;16449191;16449193;18216283;19135427;20435896;23382691;24699711;8889548 91319 E7EVA4;Q96Q80 AA985493;AB049213;ABBA01055124;AK092582;AK096976;AK125830;AL389876;AMYH02038135;AP000350;AW135031;BC057830;BM792257;CA313370;CH471095;CR456372;NM_001002862;NM_001135751;NM_198440;T79532;XM_005261824;XM_006724371;XM_006725410;XM_006725411 AAH57830;BAB68409;BAC04919;BAC86311;CAG30258;CAK54508;CAK54807;EAW59609;EAW59610;EAW59611;EAW59612;NP_001002862;NP_001129223;NP_940842;Q96Q80;XP_005261881;XP_006724434;XP_006725473;XP_006725474 Hs.593679 1680593;1747905;1753533;2138155;2185030;2185032;5491316 A006E25;G20745;G66776;MARC_9679-9680:996688523:1;RH80678;SGC32593;SHGC-107450 C22orf14;IZP6;LLN2;MGC71803 DERtrin 3;DERtrin-3;Der1-like domain family, member 3;OTTHUMP00000198428;OTTHUMP00000198429;OTTHUMP00000198430;degradation in endoplasmic reticulum protein 3;der1-like protein 3;derlin-3 APPROVED protein-coding ENSG00000099958 HGNC:14236 13139 610305 REVIEWED 1602447 DEPDC7 DEP domain containing 7 INVOLVED IN regulation of small GTPase mediated signal transduction (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl 11 11 11 p13 33184149 33201855 + 33037410 33055128 + 33015864 33033582 + 6480464;8554872 10568747;12477932;16009940;21987572;21988832 91614 Q96QD5 ABBA01060898;AC107939;AC131263;AF447588;AJ245600;AK294934;AK295960;AL121926;AMYH02024561;BC011446;BC030970;CH471064;NM_001077242;NM_139160 AAH30970;AAM22871;ABZ92082;BAG58012;BAG58740;CAB53247;CAC48255;EAW68212;EAW68213;NP_001070710;NP_631899;Q96QD5 Hs.280990 1336144;1676019;2113966;2129748 AB070065;CHLC.GATA82B04;D11S2370;RH99094 TR2;dJ85M6.4 DEP domain-containing protein 7;OTTHUMP00000232313;OTTHUMP00000232314;dJ85M6.4 (novel 58.3 KDA protein);novel 58.3 KDA protein protein-coding ENSG00000121690 HGNC:29899 11280 612294 VALIDATED 1347887 DES desmin This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008] 2 2 2 q35 214053115 214061476 + 220283099 220291461 + 219418377 219426739 + 1580290;1580863;6480464;6907045;7240710;8554872;8699517 11298680 10510252;10545598;10574968;10970245;11061256;11073539;11309420;11353857;11581269;11668632;11694502;11916970;12064939;12358155;12477713;12477932;12609507;12620971;12686604;12938929;14648196;14702039;15094067;15468102;15489334;15731013;15759133;15862967;16009553;16439510;16545539;16761416;17188893;17325244;17418574;17436150;17590381;17626518;17720647;17872945;17924085;18061454;18157088;18691435;19005210;19165527;19252475;19460759;19473514;19763525;19879535;19913121;20031618;20133133;20171226;20301486;20301582;20301672;20423733;20448486;20474083;20618440;20628086;20639865;20654101;20696008;20706999;20718792;20829228;20936779;21083940;21135508;21139048;21262226;21768101;21784990;21842594;21890473;21906983;21963094;21982405;2201025;22053931;22085644;22096479;22153487;22178446;22266860;22349865;22386993;22395512;22395865;22403400;22484823;22505724;22558309;22775584;22797925;22939629;23000965;23036309;23051780;23075894;23168288;23615443;23687351;23713052;24200904;24441330;24816145;2670738;2673923;2939097;7672786;8186663;8424456;8624579;8641565;8792816;8997639;9261168;9415431;9697706;9736733 1674 P17661;Q53SB5 ABBA01023841;AC053503;AF055081;AF055082;AF055083;AF137053;AF167579;AF189280;AF189281;AF486807;AF487828;AF521879;AF527578;AJ132926;AK022087;AK097038;AK098332;AK123787;AK300654;AL541778;AMYH02005822;AY083345;AY114212;AY125465;AY816189;AY816190;AY816191;BC010072;BC032116;BQ941246;CH471063;DQ104335;DQ104336;DQ104337;DQ301782;EF617312;JX114780;M63391;NG_008043;NM_001927;U59167 AAA99221;AAC39938;AAC39939;AAC39940;AAC50680;AAF15400;AAG41217;AAG43459;AAG43460;AAH32116;AAL93205;AAL99078;AAL99215;AAM47026;AAM95238;AAN15036;AAN37810;AAV64888;AAV64889;AAV64890;AAY15051;AAZ17411;AAZ17412;AAZ17413;ABC33803;ABM83208;ABM86408;ABR08708;AGC00771;BAG62342;CAB62389;EAW70739;EAW70740;EAW70741;NP_001918;P17661 Hs.594952 1734846;1741489;1788014;1793318;1798834;1800128;1816002;1816430;1818712;1824538;1826042;1826044;1826386;1826840;1828578;1828636;1846190;1963744;1963746;1963748;1963750;1963752;1963754;1963756;1963758;1963760;1963762;1963764;1963766;1963768;1963770;1963772;1963774;1963776;1963778;1963780;1963782;1963784;1963786;1963788;1963790;1963792;1963794;1963796;1963798;1963800;1963802;1963804;1963806;1963808;1963810;1963812;1963814;1963816;1963818;1963820;1963822;1963824;1963826;1963828;1963830;1963832;2118281;2119431;2183967;2213872;2213874;2213876;2213878;2213880;2213882;2213884;7185400;7185534 D10S215;D10S605;D2S1596E;ECD00257;ECD00920;ECD09041;ECD09257;ECD10420;ECD13367;ECD14130;ECD14131;ECD14307;ECD14535;ECD15416;ECD15445;ECD24315;G15847;G67372;GDB:181243;PMC209322P1;REN52746;REN52747;REN52748;REN52749;REN52750;REN52751;REN52752;REN52753;REN52754;REN52755;REN52756;REN52757;REN52758;REN52759;REN52760;REN52761;REN52762;REN52763;REN52764;REN52765;REN52766;REN52767;REN52768;REN52769;REN52770;REN52771;REN52772;REN52773;REN52774;REN52775;REN52776;REN52777;REN52778;REN52779;REN52780;REN52781;REN52782;REN52783;REN52784;REN52785;REN52786;REN52787;REN52788;REN52789;REN52790;RH67933;STS-W67447;stSG632973;stSG632975;stSG632976;stSG632977;stSG632978;stSG632979;stSG632980 ARVC7;ARVD7;CMD1I;CSM1;CSM2;FLJ12025;FLJ39719;FLJ41013;FLJ41793;LGMD2R;MFM1;SCPNK OTTHUMP00000064865;intermediate filament protein;mutant desmin p.K241E APPROVED protein-coding ENSG00000175084 HGNC:2770 00514 125660;181400;601419;604765;615325 REVIEWED 1352250 DERA deoxyribose-phosphate aldolase (putative) ENCODES a protein that exhibits deoxyribose-phosphate aldolase activity; INVOLVED IN deoxyribonucleoside catabolic process; PARTICIPATES IN pentose phosphate pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; biochanin A; cobalt dichloride 12 12 12 p12.3 21209100 21335267 + 16064186 16190315 + 15911252 16037381 + 1580863;6480464;6907045;8554872 10810093;12477932;12546782;17353931;20379614;21139048;21906983;22863883;22939629;8125298;8889548;9226884 51071 E9PJ44;E9PJB9;E9PMH9;E9PML7;E9PPK3;E9PPM8;G3V158;Q9Y315 ABBA01067895;ABBA01067896;ABBA01067897;AC022073;AF132960;AK024614;AK222541;AK296697;AK309182;AMYH02026104;AMYH02026105;BC041328;BC056234;BU928832;CB851336;CH471094;NM_001300779;NM_015954;XM_006719083 AAD27735;AAH56234;AAI52914;BAD96261;BAG59291;EAW96357;EAW96358;EAW96359;NP_001287708;NP_057038;Q9Y315;XP_006719146 Hs.39429 1694474;1725955;1726073;1733600;1778069;1850942;1851400;2178895 D12S930;G42967;G62226;G62312;RH44596;RH44647;SGC34106;WI-17989 CGI-26;DEOC 2-deoxy-D-ribose 5-phosphate aldolase;2-deoxyribose-5-phosphate aldolase homolog;OTTHUMP00000230114;OTTHUMP00000230117;OTTHUMP00000230119;OTTHUMP00000230121;deoxyriboaldolase;deoxyribose-phosphate aldolase-like;phosphodeoxyriboaldolase;putative deoxyribose-phosphate aldolase APPROVED protein-coding ENSG00000023697 HGNC:24269 13138 VALIDATED 1603056 DEXI Dexi homolog (mouse) INTERACTS WITH cadmium atom; cyclosporin A; diazinon 16 16 16 p13.13 11192340 11205700 - 11022748 11036257 - 10928891 10942400 - 6480464 10332034;11306815;11472984;12477932;15489334;16169070;21901246;21989056;23151489 28955 O95424 ABBA01006804;AC007014;AC007220;AC133065;AF108145;AF129929;AK314111;AMYH02031457;BC001083;BC037569;BC052989;BC071683;CH471112;NM_014015 AAC83382;AAH01083;AAH37569;AAH52989;AAH71683;ABM81712;ABM84868;BAG36804;EAW85166;EAW85167;NP_054734;O95424 Hs.592051;Hs.659355 1650540;1670037;1764749;2152935;5094068;5113069 D15S1259;G34954;RH65464;RH67014;SHGC-148328;SHGC-60178 MYLE OTTHUMP00000160213;dexamethasone-induced protein;dexamethasone-induced transcript APPROVED protein-coding ENSG00000182108 HGNC:13267 16798 VALIDATED 1348990 DET1 de-etiolated homolog 1 (Arabidopsis) PARTICIPATES IN ubiquitin/proteasome degradation pathway; FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; 5-aza-2'-deoxycytidine 15 15 15 q25.3 65456264 65490480 - 89036449 89089934 - 88493218 88546703 - 6480464;6907045 12477932;14702039;14739464;15489334;16344560;16949367;16964240;17452440;19295130;21572435;22939624;25117710 55070 H0YK09;H0YN79;Q7L5Y6 AB073887;ABBA01052996;ABBA01052997;AC013489;AK000965;AK054603;AMYH02031003;AMYH02031004;AMYH02031005;AX405875;AX875762;BC001242;BC064591;BC073867;BC109060;BC109061;CH471101;DA655836;NM_001144074;NM_017996;NR_026645;XM_006720597;XM_006720598;XM_006720599;XR_429461 AAH01242;AAI09061;AAI09062;BAA91447;BAG51398;CAD34982;CAE88994;EAX02003;EAX02004;EAX02005;EAX02006;NP_001137546;NP_060466;Q7L5Y6;XP_006720660;XP_006720661;XP_006720662 Hs.690871 1682752;1686700;1721443;2158297;2218480 DET1_4697;G59573;RH48505;RH93545;STS-H96165 FLJ10103;MGC126156;MGC126157 DET1 homolog;de-etiolated 1;de-etiolated-1 homolog protein-coding ENSG00000140543 HGNC:25477 13140 608727 VALIDATED 1607044 DESI1 desumoylating isopeptidase 1 ENCODES a protein that exhibits identical protein binding (inferred); peptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; benzo[a]pyrene 22 22 22 q13.2 25803363 25823345 - 41994032 42017079 - 41598028 41621071 - 6480464;8554872 12477932;14702039;15461802;19913121;20628086;21139048;21890473;21963094;21988832;22370726;23000965;24250222;8619474;9110174 27351 Q6ICB0 ABBA01055647;ABBA01055648;AF038183;AK090725;AL023553;AMYH02038444;BC039554;BC093956;BC112179;BC171724;BX403547;BX478162;CH471095;CR456458;NM_015704;XM_005261571;Z83840 AAH93956;AAI12180;CAG30344;EAW60445;NP_056519;Q6ICB0;XP_005261628 Hs.570455 1341952;1664738;1767021;2126760;2148845;2151590;2151592;2157340;5015619;5015861;5037552;5117897;7185938 A005Z41;D10S16;D11S3114;D22S276;D22S677;D8S2279;G20634;GDB:631813;HUM0S11D04;SHGC-152669;SHGC-813;WI-15475 D15Wsu75e;DESI2;DJ347H13.4;DeSI-1;FAM152B;MGC138384;PPPDE2 OTTHUMP00000042148;PPPDE peptidase domain containing 2;PPPDE peptidase domain-containing protein 2;desumoylating isopeptidase 2;family with sequence similarity 152, member B APPROVED protein-coding ENSG00000100418 HGNC:24577 18590 614637 VALIDATED 1603047 DESI2 desumoylating isopeptidase 2 ENCODES a protein that exhibits peptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH all-trans-retinoic acid; arsenous acid; benzene 1 1 1 q44 218106243 218162211 + 244816352 244872335 + 244653050 244709033 + 6480464 10810093;12477932;15489334;18538138;19133312;19322201;21556770;21890473;22370726;23322088 51029 B1APK7;Q9BSY9 ABBA01047195;AC099757;AF151904;AF229834;AK314664;AL049397;AL451007;AMYH02003087;AW135153;BC004485;BC020640;BC040608;BG290656;BI459676;CB854052;CH471148;CN303012;DB454981;NM_001297746;NM_016076;NR_123735;NR_123736;XM_005273154 AAD34141;AAF42919;AAH04485;AAH20640;EAW77114;EAW77115;EAW77116;EAW77117;NP_001284675;NP_057160;Q9BSY9;XP_005273211 Hs.498317 1645013;1666202;1706420;1714879;1849440;2128135;2152494;2163487;5015861;5092662 A005O07;D10S16;G32247;RH120434;RH45739;RP_L37_1;SHGC-64272;SHGC-76616;SHGC-80788;STS-AA011662 C1orf121;CGI-146;DESI;DESI1;DeSI-2;FAM152A;FLJ21998;PNAS-4;PPPDE1 OTTHUMP00000038197;OTTHUMP00000038198;PPPDE peptidase domain containing 1;PPPDE peptidase domain-containing protein 1;chromosome 1 open reading frame 121;desumoylating isopeptidase 1;family with sequence similarity 152, member A APPROVED protein-coding ENSG00000121644 HGNC:24264 15153 614638 VALIDATED 1345979 DFN4 deafness, X-linked 4, congenital sensorineural ASSOCIATED WITH Deafness, X-Linked 3 (inferred) 7240710 7942846 1680 HGNC:2777 300030 1349218 DFN5 deafness, X-linked 5 1681 HGNC:2778 731033 DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013] 1 1 1 p36.3 3028085 3056136 + 3773845 3801993 + 3857267 3885429 + 1580863;6480464;6907045;628524 11425895 10409614;10527860;10527861;10619428;10830907;10932250;10959840;11371636;12404116;12477932;12610505;12738667;12748178;14759258;15147901;15149602;15489334;15569712;15572351;15703174;15910001;16007181;16049016;16121124;16156899;16204257;16428311;16529748;16699957;17239993;17353931;17492772;17938174;18239742;18283539;19882353;20855536;21139048;21145461;21820410;21832049;21890473;21906983;22011247;22023725;22253444;22505724;22609799;22939629;23229555;23430749;23720494;24250222;24816145;9108473;9422506;9560346;9671700;9689044 1677 B4DZS0;G3XAD0;J3KT26;O76075;Q96P72;Q96P73 AB013918;AB028911;AB028912;AB028913;ABBA01073650;AF039210;AF064019;AF409060;AF409061;AF409062;AK290877;AK303065;AK309316;AL691523;AMYH02000138;AY438267;AY438268;BC032827;BC048797;CH471130;DC368011;NM_001282669;NM_004402;NR_104222 AAC39709;AAC39920;AAH32827;AAH48797;AAL02005;AAL02006;AAL02007;AAR05821;AAR05822;BAA32250;BAB40447;BAB40448;BAB40449;BAF83566;BAG64182;EAW71485;EAW71486;EAW71487;EAW71488;EAW71489;EAW71490;EAW71491;NP_001269598;NP_004393;O76075 Hs.133089 5014019;5014740;5015404;5015619;5015879;5022578;5037552 D11S3114;D17S610;D1S1423;D5S2354;D8S2279;GDB:314949;L17705 CAD;CPAN;DFF-40;DFF2;DFF40 DNA fragmentation factor 40 kDa subunit;DNA fragmentation factor subunit beta;OTTHUMP00000003633;OTTHUMP00000003634;OTTHUMP00000003649;OTTHUMP00000003673;caspase-activated DNase;caspase-activated deoxyribonuclease;caspase-activated nuclease APPROVED protein-coding ENSG00000169598 HGNC:2773 03532 601883 REVIEWED 1350243 DFN2 deafness, X-linked 2, perceptive, congenital ASSOCIATED WITH Arts syndrome (inferred); Deafness, X-Linked 1 (inferred); Optic atrophy polyneuropathy deafness (inferred) 7240710 8968763 1679 HGNC:2775 300661;301835;304500;311070 1352682 DFN6 deafness, X-linked 6, sensorineural ASSOCIATED WITH Deafness, X-Linked 4 (inferred) 7240710 8872482 1682 HGNC:2779 300066 1343685 DFN8 deafness, X-linked 8 1684 HGNC:2781 1351071 DFNA16 deafness, autosomal dominant 16 ASSOCIATED WITH Deafness, Autosomal Dominant 16 (inferred) 7240710 10364526 1694 1340415 D2S2380 HGNC:2789 603964 1606338 DFFA DNA fragmentation factor, 45kDa, alpha polypeptide Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.3-p36.2 9631993 9644017 - 10520588 10532613 - 10460531 10472556 - 6480464;6907045 10318789;10409614;10497265;10527860;10527861;10619428;10932250;10976014;11004695;11371636;11406587;11752060;11870543;11929840;12144788;12181128;12404116;12467059;12477932;12748178;14675622;15324660;15489334;15572351;16169070;16189514;16344560;16432220;16619042;16818775;16950395;16964243;17283187;17353931;17645689;17938174;17945178;18029348;18292826;18500556;18723680;18805449;19240061;19535198;19882353;20562859;20687965;21139048;21890473;21906983;22378161;22454513;22863883;22939629;23451280;24277473;24816145;8125298;9108473;9422506;9564035;9605855 1676 K7ERT1;O00273 ABBA01035604;ABBA01035605;ABBA01035606;AF087573;AF103799;AK222546;AK313317;AL354956;AMYH02000268;AMYH02000269;AU121791;BC000037;BC007112;BC007721;BE207821;BT006980;BU956486;CH471130;NG_029098;NM_004401;NM_213566;U91985 AAC51249;AAD32953;AAF02419;AAH00037;AAH07112;AAH07721;AAP35626;BAD96266;BAG36122;EAW71655;EAW71656;EAW71657;EAW71658;NP_004392;NP_998731;O00273 Hs.484782 1647297;2217250;5014051;5015404;5015621;5016478;5020740;5020946;5022322;5022463;5022578;5022651;5024413;5037552 D11S2560;D11S2921;D11S3732;D1S1423;D3S1673;D8S2278;D8S2279;DFFA_3964;GDB:434012;L17705;L17809;L17877;L17971;SHGC-74201 DFF-45;DFF1;DFF45;ICAD DNA fragmentation factor 45 kDa subunit;DNA fragmentation factor subunit alpha;OTTHUMP00000001903;OTTHUMP00000001904;inhibitor of CAD APPROVED protein-coding HGNC:2772 03531 601882 REVIEWED 1345143 DFNA18 deafness, autosomal dominant 18 ASSOCIATED WITH Deafness, Autosomal Dominant 18 (inferred) 7240710 11313754 85507 1338641 D3S1541 HGNC:13268 606012 1343757 DFNA19 deafness, autosomal dominant 19 1696 HGNC:2791 1353995 DFNA21 deafness, autosomal dominant 21 ASSOCIATED WITH Deafness, Autosomal Dominant 21 (inferred) 7240710 10764236;10890148 192644 HGNC:2794 607017 1351423 DFNA24 deafness, autosomal dominant 24 ASSOCIATED WITH Deafness, Autosomal Dominant 24 (inferred) 7240710 10739769 23723 1337196 D4S1652 HGNC:2796 606282 8548730 DFFBP1 DNA fragmentation factor, 40kDa, beta polypeptide pseudogene 1 9 9 9 32497583 32498330 - 32566377 32567124 - 32566379 32567126 - 100422581 ABBA01065079;AL353671;AMYH02019410;NG_023797 pseudo HGNC:49815 INFERRED 1347485 DFNA25 deafness, autosomal dominant 25 ASSOCIATED WITH Deafness, Autosomal Dominant 25 (inferred) 7240710 11115382 64944 HGNC:13270 605583 1353444 DFNA30 deafness, autosomal dominant 30 ASSOCIATED WITH Deafness, Autosomal Dominant 30 (inferred) 7240710 11571554 23719 1335591;1341965;7185028;7186551 D15S1004;D15S130;D15S151 HGNC:2802 606451 1343687 DFNA32 deafness, autosomal dominant 32 94138 HGNC:2804 1347641 DFNA33 deafness, autosomal dominant 33 ASSOCIATED WITH DEAFNESS, AUTOSOMAL DOMINANT 33 (inferred) 7240710 29779 HGNC:2805 614211 1352666 DFNA27 deafness, autosomal dominant 27 ASSOCIATED WITH DEAFNESS, AUTOSOMAL DOMINANT 27 (inferred) 7240710 23722 HGNC:2798 612431 1345470 DFNA29 deafness, autosomal dominant 29 23720 HGNC:2800 1347804 DFNA35 deafness, autosomal dominant 35 94140 HGNC:2807 1348048 DFNA23 deafness, autosomal dominant 23 ASSOCIATED WITH Branchiootic Syndrome 3 (inferred); Deafness, Autosomal Dominant 23 (inferred) 7240710 10777717 23724 HGNC:2795 605192;608389 1346533 DFNA4 deafness, autosomal dominant 4 7655461 1686 HGNC:2809 1351776 DFNA31 deafness, autosomal dominant 31 ASSOCIATED WITH Deafness, Autosomal Dominant 31 (inferred) 7240710 14729819 347737 HGNC:2803 608645 1347859 DFNA41 deafness, autosomal dominant 41 ASSOCIATED WITH Deafness, Autosomal Dominant 41 (inferred) 7240710 94142 1335349 D12S343 HGNC:15575 608224 1348936 DFNA34 deafness, autosomal dominant 34 94139 HGNC:2806 1349035 DFNA42 deafness, autosomal dominant 42 ASSOCIATED WITH Deafness, Autosomal Dominant 52 (inferred) 7240710 170507 1338899;1339827;1340256 D5S2017;D5S2056;D5S638 HGNC:15821 607683 1351555 DFNA43 deafness, autosomal dominant 43 ASSOCIATED WITH Deafness, Autosomal Dominant 43 (inferred) 7240710 12676899 192676 1298201;1299910;7186253 D2S139;D2S2114;D2S2333 HGNC:17243 608394 1343670 DFNA44 deafness, autosomal dominant 44 ASSOCIATED WITH Deafness, Autosomal Dominant 44 (inferred) 7240710 12483295 338335 HGNC:18663 607453 1352889 DFNA45 deafness, autosomal dominant 45 246287 HGNC:18691 1345466 DFNA40 deafness, autosomal dominant 40 63945 HGNC:14070 1350732 DFNA47 deafness, autosomal dominant 47 ASSOCIATED WITH Deafness, Autosomal Dominant 47 (inferred) 7240710 12634859 246289 HGNC:18693 608652 1354187 DFNA48 deafness, autosomal dominant 48 ASSOCIATED WITH Deafness, Autosomal Dominant 48 (inferred) 7240710 12596055 246290 HGNC:18694 607841 1353026 DFNA37 deafness, autosomal dominant 37 317718 HGNC:18545 1342813 DFNA46 deafness, autosomal dominant 46 246288 HGNC:18692 1343994 DFNA52 deafness, autosomal dominant 52 ASSOCIATED WITH Deafness, Autosomal Dominant 52 (inferred) 7240710 12522684 347713 HGNC:20791 607683 1349553 DFNA5 deafness, autosomal dominant 5 Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p15 24726449 24786103 - 24737974 24797639 - 24698355 24758020 - 1599770;1580863;6480464;7240710;8699517;8554872 9771715 11058868;12461698;12477932;12853124;12853948;14559215;14676472;14702039;15489334;16169070;16344560;16897187;17427029;17616391;17868390;18029348;18223688;18346456;18781797;19911014;20301607;20379614;20403915;21522185;21805831;21906983;21963094;22493364;23000965;23956138;24154762;24506266;24816145;8589696;8619474;9110174;9450185;9523727 1687 A4FVA8;C9JSR4;H7BZJ0;H7C0L2;H7C147;H7C3W1;O60443 ABBA01056725;ABBA01056726;AC003093;AF007790;AF073308;AF075171;AF131765;AJ270686;AK094714;AK290775;AK314402;AMYH02015378;BC019689;BC099911;BC125065;BC125066;BX647389;CH236948;CH471073;DA197867;DA820184;DA908548;NG_011593;NM_001127453;NM_001127454;NM_004403 AAB83938;AAC39635;AAC69324;AAC69326;AAD20039;AAH99911;AAI25066;AAI25067;BAF83464;BAG37026;BAG52917;EAL24246;EAW93812;EAW93813;EAW93814;NP_001120925;NP_001120926;NP_004394;O60443 Hs.520708 1336288;1684664;2108007;2123593;2126458;2165208;7186733 A004M17;D7S493;D7S632;DFNA5_8296;RH78503;RH92452;SHGC-36617 ICERE-1 OTTHUMP00000122464;OTTHUMP00000202025;OTTHUMP00000202026;inversely correlated with estrogen receptor expression 1;non-syndromic hearing impairment protein 5;nonsyndromic hearing impairment protein APPROVED protein-coding ENSG00000105928 HGNC:2810 02996 600994;608798 REVIEWED 1351469 DFNA54 deafness, autosomal dominant 54 15490091 448962 HGNC:23566 615649 1344081 DFNA49 deafness, autosomal dominant 49 ASSOCIATED WITH Deafness, Autosomal Dominant 49 (inferred) 7240710 14627674 317664 HGNC:18820 608372 1344040 DFNA7 deafness, autosomal dominant 7 ASSOCIATED WITH Deafness, Autosomal Dominant 7 (inferred) 7240710 8842739 1689 1338728 D1S196 HGNC:2812 601412 1342877 DFNA53 deafness, autosomal dominant 53 ASSOCIATED WITH Deafness, Autosomal Dominant 53 (inferred) 7240710 353347 HGNC:21402 609965 1348716 DFNB13 deafness, autosomal recessive 13 ASSOCIATED WITH Deafness, Autosomal Recessive 13 (inferred) 7240710 9781028 1705 HGNC:2819 603098 1351998 DFNB14 deafness, autosomal recessive 14 ASSOCIATED WITH Deafness, Autosomal Recessive 14 (inferred) 7240710 9887371 1706 HGNC:2820 603678 1350590 DFNB17 deafness, autosomal recessive 17 ASSOCIATED WITH Deafness, Autosomal Recessive 17 (inferred) 7240710 9674898 1709 HGNC:2823 603010 1346199 DFNB15 deafness, autosomal recessive 15 ASSOCIATED WITH Deafness, Autosomal Recessive 15 (inferred) 7240710 9286457 1707 HGNC:2821 601869 1353432 DFNB19 deafness, autosomal recessive 19 1712 HGNC:2825 1347217 DFNA51 deafness, autosomal dominant 51 286750 HGNC:19984 1345504 DFNB24 deafness, autosomal recessive 24 ASSOCIATED WITH DEAFNESS, AUTOSOMAL RECESSIVE 24 (inferred) 7240710 23716 HGNC:2830 611022 1349702 DFNB25 deafness, autosomal recessive 25 23715 HGNC:2831 1352391 DFNB26 deafness, autosomal recessive 26 ASSOCIATED WITH Deafness, Autosomal Recessive 26 (inferred) 7240710 11101839 23714 1339655 D4S1610 HGNC:2832 605428 1347115 DFNB27 deafness, autosomal recessive 27 ASSOCIATED WITH Deafness, Autosomal Recessive 27 (inferred) 7240710 11175289 23713 1338016;1338369;1342208 D2S2157;D2S2257;D2S2273 HGNC:2833 605818 1349874 DFNB28 deafness, autosomal recessive 28 23712 HGNC:2834 1352253 DFNB32 deafness, autosomal recessive 32 ASSOCIATED WITH Deafness, Autosomal Recessive 32 (inferred) 7240710 12634867 113877 1336230;1855588 AFMb014zb9;D1S2868 HGNC:16360 608653 1349658 DFNA50 deafness, autosomal dominant 50 ASSOCIATED WITH DEAFNESS, AUTOSOMAL DOMINANT 50 (inferred) 7240710 14757864 317665 HGNC:18819 613074 1349509 DFNB31 deafness, autosomal recessive 31 This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010] 9 9 9 q32 87812014 87915400 - 117164360 117267789 - 114402080 114505509 - 1580603;6480464;7240710;8547667;8554872;8699517 12833159;19804752 10819331;11973626;12421765;12477932;12641734;14702039;15590698;16344560;16434480;17171570;17584769;19308021;19724906;20301515;20301607;20352026;20414141;20583170;21254220;21738389;22147658;23251661;23441107;24022220;24618850 25861 B9EGE6;Q9P202 AB040959;ABBA01042666;ABBA01042667;AK022854;AK056190;AL110228;AL138895;AL557526;AMYH02021518;BC011918;BC014524;BC136416;BC142614;BC142684;BF969269;BX329269;CH471090;DA502065;KF459656;KF459658;NG_016700;NM_001083885;NM_001173425;NM_015404;XM_005251895;XM_005251897;XM_005251898;XM_006717041 AAI36417;AAI42615;AAI42685;BAA96050;BAB14275;CAB53685;EAW87420;EAW87421;EAW87422;EAW87423;NP_001077354;NP_001166896;NP_056219;Q9P202;XP_005251952;XP_005251954;XP_005251955;XP_006717104 Hs.93836 1335741;1337150;1342121;1687652;1738277;1761075;1762039;1787066;1787162;2171538;2218482 D9S1682;D9S1776;D9S1824;D9S2024;D9S314;DFNB31_4698;RH99310;SHGC-145040;SHGC-145954;SHGC-154470;SHGC-156144 CIP98;DKFZp434N014;KIAA1526;PDZD7B;RP11-9M16.1;USH2D;WHRN;WI CASK-interacting protein CIP98;OTTHUMP00000021976;OTTHUMP00000021977;OTTHUMP00000021978;autosomal recessive deafness type 31 protein;whirlin APPROVED protein-coding ENSG00000095397 HGNC:16361 09718 607084;607928;611383 REVIEWED 1345587 DFNB34 deafness, autosomal recessive 34 245821 HGNC:17143 1352572 DFNB38 deafness, autosomal recessive 38 ASSOCIATED WITH Deafness, Autosomal Recessive 38 (inferred) 7240710 12890929 337991 1334598;1336738 D6S1599;D6S1719 HGNC:19210 608219 1323042 DEPDC5 DEP domain containing 5 This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 22 22 22 q12.3 15950512 16103452 + 32149937 32303020 + 31753951 31907034 + 1580863;6480464;7240710;8554872;8699517 10591208;12477932;15342556;15489334;15770670;16344560;17897319;18187620;21725309;21890473;22449649;23542697;23542701;23723238;24585383;24591017;24814846;9734811 9681 B4DGG3;C9JGS4;F8WAX3;H0Y770;H7C1T0;H7C3I3;O75140 AB014545;ABBA01055348;ABBA01055349;ABBA01055350;ABBA01055351;ABBA01055352;ABBA01055353;ABBA01055354;ABBA01055355;ABBA01055356;AC005004;AJ698950;AJ698951;AJ704764;AK294583;AK294987;AK299886;AK300737;AK309008;AK316364;AL022331;AMYH02038252;AMYH02038253;AMYH02038254;AMYH02038255;AMYH02038256;AMYH02038257;AMYH02038258;BC057797;BC136612;BC144291;BC146766;BM145115;BP354669;BX640828;CA310381;CH471095;CR749304;DA339804;DB381506;NG_034067;NM_001007188;NM_001136029;NM_001242896;NM_001242897;NM_014662;NR_110988;XM_005261862;XM_005261863;XM_005261864;XM_005261865;XM_005261866;XM_005261867;XM_006724384;XM_006724385;XM_006724386;XM_006724387;XR_244404;XR_244405;Z82190;Z83856 AAD08635;AAH57797;AAI36613;AAI46767;BAA31620;BAG57774;BAG58054;BAG61733;BAH13337;BAH14735;CAE45904;CAG27889;CAG27890;CAG28924;CAH18159;EAW59996;EAW59997;EAW59998;EAW59999;NP_001007189;NP_001129501;NP_001229825;NP_001229826;NP_055477;O75140;XP_005261919;XP_005261920;XP_005261921;XP_005261922;XP_005261923;XP_005261924;XP_006724447;XP_006724448;XP_006724449;XP_006724450 Hs.435022 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DEP.5;DKFZp779P2027;FFEVF DEP domain-containing protein 5;OTTHUMP00000028946;OTTHUMP00000064061;OTTHUMP00000064062;OTTHUMP00000064064 protein-coding ENSG00000100150 HGNC:18423 16795 604364;614191 REVIEWED 1353832 DFNB35 deafness, autosomal recessive 35 ASSOCIATED WITH Deafness, Autosomal Recessive 35 (inferred) 7240710 12529709 246148 HGNC:18366 608565 1344004 DFNB40 deafness, autosomal recessive 40 ASSOCIATED WITH Deafness, Autosomal Recessive 40 (inferred) 7240710 14512974 379003 1335420;1335956;1341864 D22S1144;D22S1174;D22S427 HGNC:20408 608264 1349449 DFNB42 deafness, autosomal recessive 42 ASSOCIATED WITH Deafness, Autosomal Recessive 42 (inferred) 7240710 449482 HGNC:20181 609646 1342725 DFNB43 deafness, autosomal recessive 43 449481 HGNC:17480 1352587 DFNB39 deafness, autosomal recessive 39 ASSOCIATED WITH Deafness, Autosomal Recessive 39 (inferred) 7240710 14512973 317720 HGNC:19211 608265 1343011 DFNB33 deafness, autosomal recessive 33 ASSOCIATED WITH Deafness, Autosomal Recessive 33 (inferred) 7240710 170508 1336264;1336577;1339570 D9S1826;D9S1838;D9S905 HGNC:16359 607239 1352532 DFNB20 deafness, autosomal recessive 20 ASSOCIATED WITH Deafness, Autosomal Recessive 20 (inferred) 7240710 10196710 1713 HGNC:2827 604060 1346013 DFNB44 deafness, autosomal recessive 44 ASSOCIATED WITH Deafness, Autosomal Recessive 44 (inferred) 7240710 15583425 449484 HGNC:23223 610154 1352987 DFNB48 deafness, autosomal recessive 48 ASSOCIATED WITH Deafness, Autosomal Recessive 48 (inferred) 7240710 404086 HGNC:31348 609439 1344391 DFNB36 deafness, autosomal recessive 36 HGNC:18686 1344042 DFNB5 deafness, autosomal recessive 5 ASSOCIATED WITH Deafness, Autosomal Recessive 5 (inferred) 7240710 8541854 1697 HGNC:2837 600792 1349488 DFNB47 deafness, autosomal recessive 47 ASSOCIATED WITH Deafness, Autosomal Recessive 47 (inferred) 7240710 449489 HGNC:31086 609946 1349714 DFNB53 deafness, autosomal recessive 53 ASSOCIATED WITH Deafness, Autosomal Dominant 13 (inferred); Deafness, Autosomal Recessive 53 (inferred); OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (inferred) 7240710 494120 HGNC:28877 184840;215150;277610;601868;609706;614524 1345852 DFNB55 deafness, autosomal recessive 55 ASSOCIATED WITH Deafness, autosomal recessive 55 (inferred) 7240710 494148 HGNC:28876 609952 1353785 DFNB56 deafness, autosomal recessive 56 494149 HGNC:31877 1350846 DFNB46 deafness, autosomal recessive 46 ASSOCIATED WITH Deafness, Autosomal Recessive 46 (inferred) 7240710 449488 HGNC:31085 609647 1347427 DFNB45 deafness, autosomal recessive 45 ASSOCIATED WITH DEAFNESS, AUTOSOMAL RECESSIVE 45 (inferred) 7240710 449483 HGNC:22400 612433 1342672 DFNB49 deafness, autosomal recessive 49 ASSOCIATED WITH Deafness, Autosomal Recessive 49 (inferred) 7240710 15538632 404087 HGNC:31349 610153 1354344 DFNM2 deafness (mitochondrial) modifier 2 10788333;11388757 494142 HGNC:31866 1344215 DFNB51 deafness, autosomal recessive 51 ASSOCIATED WITH Deafness, autosomal recessive 51 (inferred) 7240710 448963 HGNC:24367 609941 1343003 DFNM1 deafness (recessive, nonsyndromic) modifier 1 ASSOCIATED WITH DEAFNESS, NONSYNDROMIC, MODIFIER 1 (inferred) 7240710 54362 1339088 D1S2815 HGNC:2842 605429 1349300 DFNB50 deafness, autosomal recessive 50 404542 HGNC:31380 1352291 DFNB59 deafness, autosomal recessive 59 The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008] 2 2 2 q31.2 172919049 172928999 + 179316163 179326149 + 178451436 178461422 + 6480464;7240710;8554872;8699517 12477932;15489334;16804542;17301963;17373699;17718865;19160860;19913121;20301607;20628086;20739942;21696384;21935370;22617256 494513 A0PK15;H7C1C3;H7C3A9;Q0ZLH3 ABBA01062244;AC009948;AMYH02005325;AMYH02005326;AW006294;BC020859;BC127902;BC127903;BC146938;CH471058;DQ365827;NG_012186;NM_001042702;XM_005246626;XM_005246627;XM_005246628;XM_005246629;XM_006712554 AAI27903;AAI27904;AAI46939;ABC94894;EAX11033;NP_001036167;Q0ZLH3;XP_005246683;XP_005246684;XP_005246685;XP_005246686;XP_006712617 Hs.87734 1685005 RH91939 PJVK OTTHUMP00000205645;OTTHUMP00000205647;OTTHUMP00000205649;autosomal recessive deafness type 59 protein;pejvakin APPROVED protein-coding ENSG00000204311 HGNC:29502 610219;610220 REVIEWED 1354149 DGCR DiGeorge syndrome chromosome region ASSOCIATED WITH CONOTRUNCAL HEART MALFORMATIONS (inferred); DiGeorge Syndrome (inferred); Tetralogy of Fallot (inferred) 7240710 1714 HGNC:2844 187500;188400;192430;217095 6899057 DGAT2L7P diacylglycerol O-acyltransferase 2-like 7, pseudogene ENCODES a protein that exhibits transferase activity, transferring acyl groups other than amino-acyl groups (inferred); INVOLVED IN lipid metabolic process (inferred); INTERACTS WITH cadmium dichloride (ortholog); caffeine (ortholog); methylmercury chloride (ortholog) 7 7 7 q22.1 95854197 95855963 - 100845094 100846556 - 101201813 101203275 - 6480464 14970677 646409 Q6IED9 ABBA01011343;AC004876;AMYH02016403;NG_033274 Q6IED9 2165896 A002S06 DGAT2L7 diacylglycerol O-acyltransferase 2 like protein 7;diacylglycerol O-acyltransferase 2-like 7 pseudogene;putative diacylglycerol O-acyltransferase 2-like protein 7;putative diacylglycerol O-acyltransferase 2-like protein DGAT2L7P pseudo HGNC:44367 INFERRED 1352737 DGAT2 diacylglycerol O-acyltransferase 2 This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 11 11 11 q13.5 72787576 72820377 + 75479778 75512581 + 75768733 75801536 + 1580863;6480464;8554872 11481335;12477932;12975309;14521909;14702039;14970677;15221005;15258194;15489334;16870193;17207965;17477860;17504763;17940217;18757836;18980578;19049983;19913121;20379614;20628086;20679960;20739640;21933415;22315393;22748069;23489367;24097068;24820123;8944226 84649 Q96PD7;S4R383;S4R3S3;S4R3Z3;S4R449 AB048286;AB073384;ABBA01017460;ABBA01017461;AF384161;AI126704;AK074203;AK091870;AL834287;AMYH02025122;AP001922;AP003031;AY358532;AY780647;BC015234;CH471076;CR749377;DB462004;HB886769;HB911619;HC944178;HC969028;NM_001253891;NM_032564 AAH15234;AAK84176;AAQ88896;AAV35727;ADQ32768;BAB40641;BAD38635;CAD38961;CAH18230;CBF67543;CBF90902;CBU92416;CBV04422;EAW74984;EAW74985;NP_001240820;NP_115953;Q96PD7 Hs.129798 1694494;1699016;1771333;5015861;5022651;5127733;7185938 D10S16;D11S1008;D11S2921;G42985;RH103080;RH17957 ARAT;DKFZp686A15125;GS1999FULL;HMFN1045 OTTHUMP00000229397;OTTHUMP00000229398;acyl-CoA retinol O-fatty-acyltransferase;diacylglycerol O-acyltransferase homolog 2;diacylglycerol O-acyltransferase-like protein 2;diglyceride acyltransferase 2;retinol O-fatty-acyltransferase APPROVED protein-coding ENSG00000062282 HGNC:16940 07376 606983 VALIDATED 1349814 DGCR12 DiGeorge syndrome critical region gene 12 q11.21 8776594 25784 L77562 Hs.517357 2112194 D22S1578 DGS-E protein-coding HGNC:17225 731052 DGAT1 diacylglycerol O-acyltransferase 1 This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013] 8 8 8 q24.3 141713015 141725223 - 145538246 145550582 - 144314583 144326919 - 1625599;734536;1625597;1300048;1580863;6480464;6907045;8699517;7240710;8554872 10802663;12123490;14569040 11181995;11672446;11959864;12401709;12477932;14557275;15258194;15308631;15380446;15489334;16214399;16306352;16870193;16894240;17510710;18183944;18238778;18458083;18757836;18768481;19197254;20167659;20935628;21369919;21846726;21988832;21990351;22748069;23114594;23317570;23420847;24573674;24899196;3104518;8889548;8944226;9756920;9789033 8694 O75907 AB057815;ABBA01005215;ABBA01005216;AC142402;AC233992;AF059202;AF205589;AMYH02018999;BC006263;BC015762;BC023565;BC106084;BC150649;BI907285;CH471162;CK300256;HY016503;NG_034192;NM_012079 AAC63997;AAH06263;AAH15762;AAH23565;AAI06085;AAI50650;ABM83212;ABM86412;BAC66170;EAW82127;EAW82128;EAW82129;EAW82130;NP_036211;O75907 Hs.521954 1679033;1739365;2108009;2151105 D8S1577E;DGAT1_8848;RH79683;STS-M64673 ARAT;ARGP1;DGAT;DIAR7 ACAT related gene product 1;ACAT-related gene product 1;OTTHUMP00000228556;acyl coenzyme A:cholesterol acyltransferase related gene 1;acyl-CoA retinol O-fatty-acyltransferase;acyl-CoA:diacylglycerol acyltransferase;diacylglycerol O-acyltransferase homolog 1;diglyceride acyltransferase;retinol O-fatty-acyltransferase APPROVED protein-coding ENSG00000185000 HGNC:2843 05360 604900;615863 REVIEWED 1351059 DGCR11 DiGeorge syndrome critical region gene 11 (non-protein coding) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 22 22 22 q11.21 2885701 2887914 - 19033675 19035888 - 19046162 19048375 - 6480464;8554872 8776594 25786 ABBA01005426;AC004461;AK098432;AMYH02038034;L77561;NG_021333;NR_024157 Hs.720269 1657660;1668304;1760255;2112408;5015619;5024035;5037552;5037636 D11S3114;D13S116;D22S1633;D22S1661;D8S2279;RH78708;SHGC-132562;SHGC-35943 DGS-D APPROVED ncrna HGNC:17226 VALIDATED 1344083 DGCR13 DiGeorge syndrome critical region gene 13 8776594 26221 L77565 HGNC:17863 1353254 DGCR5 DiGeorge syndrome critical region gene 5 (non-protein coding) INTERACTS WITH hydralazine; valproic acid 22 22 22 q11 2810158 2834163 + 18958011 18982142 + 18998106 19031229 + 6480464 11258795;12477932;19050060;21886157;22202438;8659529 26220 Q05BT5 AB051434;ABBA01005429;AC000095;AC007326;AI301969;AI566862;AMYH02038033;AMYH02038034;BF313645;BG699848;BM681341;HG511988;HG511989;HG511990;NR_002733;NR_045121;NR_110533;X91348;XM_003846300;XM_003846633;XM_003960801;XR_109700;XR_254060;XR_425299;XR_430416;XR_430417;XR_433678;XR_433679 XP_003846348;XP_003846681;XP_003960850 Hs.646438 1721037;2112430;2112434;2112436;2112450;2112496;2176226;5037552 D22S1630;D22S1640;D22S1642;D22S1649;D22S1659;D8S2279;G59500;WI-14976 KIAA1647;LINC00037;MGC45713;NCRNA00037 pseudo HGNC:16757 VALIDATED 1346216 DGCR7 DiGeorge syndrome critical region gene 7 q11 11434309 266621 X99536 Hs.657950 ncrna 1317866 DGCR14 DiGeorge syndrome critical region gene 14 This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 2969816 2984136 - 19117792 19132190 - 19130279 19144677 - 1580863;6480464;8554872 11751918;11984006;11991638;12477932;14702039;15461802;15489334;16432632;17081983;18029348;19913121;20301696;21890473;21900206;21988832;22365833;22412018;23443559;24550385;24816145;8703114;8776594;8786095;9063747;9383280;9405660;9499415 8220 F8WEF8;Q96DF8 ABBA01005424;AC004471;AK095932;AMYH02038035;BC003015;BC006542;BC037829;BC069275;BM545545;CH471176;CR456344;L42353;L77565;L77566;L78010;NG_008320;NM_022719;U84518;XM_005261282;XM_006724329;XM_006724330;XM_006724331 AAH03015;AAH06542;AAL40039;ABM81588;ABM84768;BAG53170;CAG30230;CAK54486;CAK54785;EAX03053;EAX03054;EAX03055;EAX03056;NP_073210;Q96DF8;XP_005261339;XP_006724392;XP_006724393;XP_006724394 Hs.517407;Hs.741535 1681785;1682942;1775812;2109895;2112178;2112184;2112192;2112502;2112508;5123917 A008Y39;D22S1008E;D22S1568;D22S1572;D22S1577;D22S1667;D22S1670;RH77816;RH91163;STK22B_9383 DGCR13;DGS-H;DGS-I;DGSH;DGSI;ES2;Es2el DiGeorge syndrome critical region gene 13;DiGeorge syndrome critical region gene DGSI;DiGeorge syndrome gene H;DiGeorge syndrome gene I;OTTHUMP00000196363;diGeorge syndrome critical region 13;diGeorge syndrome critical region 14;diGeorge syndrome protein H APPROVED protein-coding ENSG00000100056 HGNC:16817 03452;18586 601755 REVIEWED 1353708 DGCR10 DiGeorge syndrome critical region gene 10 (non-protein coding) 22 22 22 q11 2862160 2863086 + 19010137 19011063 + 19022624 19023550 + 8776594;8889548 26222 ABBA01005427;AC000095;AMYH02038034;BM681417;BU584104;L77559;NR_026651 Hs.681383 2112188 D22S1575 DGS-B APPROVED ncrna HGNC:17864 PREDICTED 1321547 DGCR2 DiGeorge syndrome critical region gene 2 Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 22 22 22 q11.21 2875821 2961991 - 19023795 19109967 - 19036282 19122454 - 1580863;6480464;8554872 12477932;15231747;15231748;15461802;15489334;16344560;16783572;17081983;18797402;19668116;19906316;20301696;21822266;21988832;22465717;3770751;7633403;7655455;8630060;8724849;8776594 9993 B7Z3C4;B7Z3T5;P98153;Q5CZ70;Q8IWC8 ABBA01005425;ABBA01005426;AC000095;AC004461;AC004462;AC004471;AK291670;AK295697;AK296337;AK303130;AK304382;AMYH02038034;AMYH02038035;AW502246;BC020339;BC032430;BC035425;BC040500;CH471176;CR456433;CR936871;D79985;DA494775;FJ032369;KC877930;KC877932;KC877939;KF457348;KF457349;KF570252;L46352;L77560;NG_021333;NM_001173533;NM_001173534;NM_001184781;NM_005137;NR_033674;X83545;X84076 AAB59561;AAH32430;AAH40500;ABM85086;ACI00235;BAA11480;BAF84359;BAH12160;BAH12321;BAH13903;BAH14171;CAA58536;CAA58883;CAG30319;CAI59783;CAK54424;CAK54723;EAX03061;EAX03062;EAX03063;NP_001167004;NP_001167005;NP_001171710;NP_005128;P98153 Hs.517357 1657660;1667832;1667834;1668304;1683523;1734300;1739511;1760255;1767133;1767135;2112180;2112186;2112410;2112412;2112414;2112456;2112460;2112480;2150643;2178834;2218764 A001T42;A002D20;D22S1117;D22S1569;D22S1573;D22S1600;D22S1611;D22S1626;D22S1635;D22S1650;D22S1653;D22S947;DGCR2__4701;G19640;G19956;RH25381;RH78708;SGC31562;SHGC-132562;SHGC-35943;STS-L46584 DGS-C;DKFZp686I1730;IDD;KIAA0163;LAN;SEZ-12 DiGeorge syndrome critical region protein 2;OTTHUMP00000196406;integral membrane protein DGCR2/IDD;integral membrane protein deleted in DiGeorge syndrome APPROVED protein-coding ENSG00000070413 HGNC:2845 08999 600594 REVIEWED 1343811 DGCR6L DiGeorge syndrome critical region gene 6-like This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 4153410 4159277 - 20301761 20307628 - 20314238 20320105 - 1580863;6480464 11157784;12477932;14702039;15461802;15489334;15821931;16189514;19778628;22832905;24722188 85359 B5MCQ4;F8WCX1;Q9BY27 ABBA01005390;AC007663;AF228708;AK001528;AK289952;AK307210;AK310899;AMYH02038058;BC000682;CH471176;CR456361;KJ535014;NM_033257 AAH00682;AAK15585;AHW56653;BAF82641;BAG50932;CAG30247;CAK54502;CAK54801;EAX02972;EAX02973;EAX02974;NP_150282;Q9BY27 Hs.410965 1771014;2189353 G21267;MARC_2646-2647:991932963:1 DGCR6;FLJ10666 DiGeorge syndrome critical region gene 6 like;OTTHUMP00000197870;OTTHUMP00000197880;diGeorge syndrome critical region 6-like protein APPROVED protein-coding ENSG00000128185 HGNC:18551 16800 609459 REVIEWED 1602812 DGAT2L6 diacylglycerol O-acyltransferase 2-like 6 ENCODES a protein that exhibits transferase activity, transferring acyl groups other than amino-acyl groups (inferred); INVOLVED IN lipid metabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred) X X X q13.1 69750703 69778926 + 69397336 69425553 + 70177486 70205703 + 14702039;14970677;15671038;15772651 347516 Q6ZPD8 ABBA01067538;ABBA01067539;ABBA01067540;ABBA01067541;AK129500;AL139111;AL357752;AMYH02039655;BN000157;CH471132;HB886749;HB911599;HC944158;HC969008;KF459156;NM_198512 AAI72336;BAC85167;CAD89268;CBF67533;CBF90892;CBU92406;CBV04412;EAX05354;NP_940914;Q6ZPD8 Hs.454355 1853929;2137761;2171621 DXS6831;DXS7678;DXS9718 DC3;FLJ25989;hDC3 OTTHUMP00000023472;diacylglycerol O-acyltransferase 2 like 6;diacylglycerol O-acyltransferase 2-like protein 6;diacylglycerol O-acyltransferase candidate 3 protein-coding ENSG00000184210 HGNC:23250 13141 300926 PROVISIONAL 1343276 DGCR9 DiGeorge syndrome critical region gene 9 (non-protein coding) 22 22 22 q11.21 2857370 2859784 + 19005347 19007761 + 19017834 19020248 + 8776594 25787 ABBA01005428;AC000095;AMYH02038034;BC036821;L77571;NR_024159 Hs.106311 1662662;2112484;2112490;2112494;2135293;5111411 D22S1652;D22S1656;D22S1657;D22S987E;RH77813;SHGC-57259 DGS-A APPROVED ncrna ENSG00000273032 HGNC:17227 VALIDATED 1319711 DGCR6 DiGeorge syndrome critical region gene 6 DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008] 22 22 22 q11.21 2745929 2751791 + 18893736 18899601 + 18906223 18912088 + 1580863;6480464 11157784;11891283;11959925;12107411;12477932;15461802;15489334;15821931;20036641;20301696;20398908;21832049;22832905;24722188;8733130 8214 K7ELY4;K7EPQ2;Q14129;Q6FGH4;X5D7D2 ABBA01005433;AC007326;AF228707;AK098780;AK315115;AMYH02038032;BC033306;BC047039;BQ639188;CD368547;CH471176;CR456434;CR542133;DW432909;KJ534820;KJ534971;KJ535003;KJ535013;KJ535027;KJ535047;NG_009052;NM_005675;X96484 AAH47039;AAK15584;AHW56460;AHW56611;AHW56642;AHW56652;AHW56666;AHW56686;BAG37572;CAA65339;CAG30320;CAG46930;CAK54425;CAK54724;EAX03075;EAX03076;EAX03077;EAX03078;NP_005666;Q14129 Hs.474185 1771014;2189353 G21267;MARC_2646-2647:991932963:1 DiGeorge syndrome critical region protein 6;OTTHUMP00000196491 APPROVED protein-coding ENSG00000183628 HGNC:2846 03177 601279 REVIEWED 1347499 DGKE diacylglycerol kinase, epsilon 64kDa Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008] 17 17 17 q22 51373022 51407618 + 54911460 54946036 + 56834099 56868675 + 1580863;6480464;6907045;8699517;7240710;8554872 10051413;10571048;12477932;14702039;16344560;17353931;17455907;17620599;18004883;18391951;19329342;19744926;19946888;20301541;20546612;21194521;21725595;21833457;21890473;21988832;22108654;22266092;22511757;23261795;23274426;23542698;23630338;24119575;24511134;24816145;8626589;8889548 8526 A1L4Q0;I3L112;I3L2V2;P52429;Q8TBM4 AB209365;ABBA01041306;ABBA01041307;AC015912;AC106858;AF136745;AK057591;AK129803;AK293039;AK310668;AL555194;AMYH02033665;BC022297;BC130629;BC130631;BM682264;CH471109;DB221284;NG_033888;NM_003647;U49379;XM_005257749;XM_006722143 AAC50497;AAD45666;AAH22297;AAI30630;AAI30632;ADR83069;BAD92602;BAF85728;EAW94526;NP_003638;P52429;XP_005257806;XP_006722206 Hs.239514 1664065;2106465;2117489;2123877;5014051;5016478;5017266;5037552;5118444 A004M35;D11S3316;D8S2278;D8S2279;DGKE_4069;GDB:434012;L18506;RH47631;SHGC-31117 DAGK5;DAGK6;DGK;NPHS7 DAG kinase epsilon;DGK-epsilon;diacylglycerol kinase epsilon;diglyceride kinase epsilon APPROVED protein-coding ENSG00000153933 HGNC:2852 03259 601440;615008 REVIEWED 732760 DGKA diacylglycerol kinase, alpha 80kDa The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 55977545 56000461 + 56324946 56347811 + 55931162 55954027 + 1580863;6480464;6907045 10206945;10358029;10970854;11285286;12477932;12626538;14559993;14702039;14734770;15117825;15122338;15489334;15870081;15928040;16341674;17276726;17700527;17898083;17911109;18004883;18424699;18729074;19751727;19946888;20160093;21252909;21493725;2175712;21906983;22048771;22271650;22425622;22505724;22573804;22939629;22951725;24158111;24816145;7959783;8180475;8626603 1606 C9JM35;F8VNZ9;F8VWX8;F8W1H7;F8W1M3;G3V312;G3V327;G3V4E1;G3V4I3;H0YJE7;H0YJH4;P23743 ABBA01008394;ABBA01008395;AC025162;AF064767;AF064768;AF064769;AF064770;AF064771;AI815678;AK122973;AK127093;AK226134;AK303320;AK307685;AK309939;AK310600;AMYH02026556;AY930112;BC023523;BC031870;BF448612;BM836118;BM910598;BQ943057;CH471054;NM_001345;NM_201444;NM_201445;NM_201554;X62535;XM_005268688;XM_005268689;XM_005268690;XM_006719260;XR_429084 AAC34802;AAC34803;AAC34804;AAC34805;AAC34806;AAH23523;AAH31870;AAY20994;ABM82643;ABM85820;BAG64388;CAA44396;EAW96849;EAW96850;EAW96851;NP_001336;NP_958852;NP_958853;NP_963848;P23743;XP_005268745;XP_005268746;XP_005268747;XP_006719323 Hs.524488 1734012;2121414;2126877;2140056;2157357;2168254;2190579;2217252;5015385 D12S53E;DGKA_2719;EST8E12;G06345;RH68207;SHGC-5310;STS-D29052;STS-N23118;STS-X62535 DAGK;DAGK1;DGK-alpha;MGC12821;MGC42356 80 kDa diacylglycerol kinase;DAG kinase alpha;OTTHUMP00000242836;OTTHUMP00000242955;OTTHUMP00000244046;diacylglycerol kinase alpha;diacylglycerol kinase, alpha (80 kda);diglyceride kinase alpha APPROVED protein-coding ENSG00000065357 HGNC:2849 00517 125855 REVIEWED 1314941 DGCR8 DGCR8 microprocessor complex subunit This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 22 22 22 q11.2 3919807 3951450 + 20067755 20099400 + 20080232 20111877 + 1580863;4144851;6480464 20661255 11076863;11256614;12477932;12705904;14702039;15461802;15489334;15489336;15531877;15574589;15589161;16344560;16381901;16751099;17159994;17704815;17765891;18029348;19047128;19135890;19138993;19721432;19759829;19851984;19902333;20301696;20506313;20585341;20721975;20732906;20819778;21145461;21454614;21832049;22025453;22222205;22308374;22393237;22434730;22796965;22939629;23602568;23629745;23663110;23773483;23863141;23893406;24239349;24449888;24457600;24589731;24778252;8125298 54487 C9JSD5;Q8WYQ5 AA737782;AB050770;ABBA01005394;ABBA01005395;AC006547;AF165527;AK025427;AK025539;AK025780;AK094381;AK222796;AK313357;AMYH02038056;AY189282;BC009323;BC009984;BC037564;BC071568;BC078147;BQ001948;BQ227899;BX649187;CH471176;CR456356;DA433651;HC879390;HD033099;KC877934;NG_022931;NM_001190326;NM_022720;XM_006724268 AAF82263;AAH09323;AAH09984;AAH78147;AAO86726;BAB15165;BAB15238;BAB83032;BAD96516;BAG36158;CAE46205;CAG30242;CAK54497;CAK54796;CAL37531;CBM42911;CBV35644;EAX02998;EAX02999;EAX03000;NP_001177255;NP_073557;Q8WYQ5;XP_006724331 Hs.643452;Hs.713579 1677240;1694808;1699728;1713761 G43633;RH103470;RH120767;RH76352 C22orf12;DGCRK6;Gy1 DiGeorge syndrome critical region 8;DiGeorge syndrome critical region gene 8;OTTHUMP00000197673;OTTHUMP00000197674;microprocessor complex subunit DGCR8;pasha APPROVED protein-coding ENSG00000128191 HGNC:2847 09913 609030 REVIEWED 733742 DGKG diacylglycerol kinase, gamma 90kDa This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q27.2-q27.3 184301641 184516726 - 185852896 186080023 - 186147201 186362234 - 1300048;1580863;6480464;6907045;8554872 10071200;12477932;12732202;12941073;15102830;15150663;15174051;15194113;15212759;15578578;16288460;16407189;16905533;17620599;17803461;18029348;19079260;20200978;20215397;20379614;20816195;24486543;8034597;8889548;9003401 1608 H7C0L0;P49619 AB209033;ABBA01058391;ABBA01058392;AC007917;AC112649;AC117414;AF020945;AK304440;AK309682;AK314192;AMYH02008339;AMYH02008340;AMYH02008341;AMYH02008342;AMYH02008343;AY737485;BC089411;BC112363;BM669549;D26135;NM_001080744;NM_001080745;NM_001346 AAC04686;AAH89411;AAI12364;AAW63408;BAA05132;BAD92270;BAG36871;BAH14187;NP_001074213;NP_001074214;NP_001337;P49619 Hs.683449 1337822;1339999;1645464;1650106;1686885;1713301;1714821;1722597;1795684;1848587;2126111;2134797;2138789;2139499;2145128;2149537;2167027;2167590;2171349;2180690;7183817 D3S1602;D3S1617;DGKG_587;G09397;G10718;G30123;G60382;NIB1365;RH120077;RH120642;SHGC-30409;SHGC-3840;SHGC-77607;SHGC-77615;SHGC-77620;SHGC-77629;SHGC-77630;SHGC-77631;WI-15878;WI-7381 DAGK3;DGK-GAMMA;MGC104993;MGC133330 DAG kinase gamma;OTTHUMP00000210178;OTTHUMP00000210179;OTTHUMP00000210200;diacylglycerol kinase gamma;diacylglycerol kinase, gamma;diacylglyerol kinase gamma;diglyceride kinase gamma APPROVED protein-coding ENSG00000058866 HGNC:2853 03510 601854 REVIEWED 731815 DGKB diacylglycerol kinase, beta 90kDa Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p21.2 14163789 14859377 - 14184674 14943281 - 14145049 14903656 - 1300048;6480464;6907045;8554872 11719522;12477932;12690205;12853948;14702039;15489334;16344560;17353931;18062770;19176441;19913121;20081858;20185807;20379614;20419449;20490451;20571754;20628086;20677014;20889853;21493725;22399527;22581228;23776197;23814057;24324551;24695318;7689223;9872452 1607 B5MBY2;B5MCD5;C9JA18;Q9Y6T7 AB018261;ABBA01056599;ABBA01056600;ABBA01056601;ABBA01056602;ABBA01056603;ABBA01056604;ABBA01056605;ABBA01056606;ABBA01056607;ABBA01056608;ABBA01056609;AC005039;AC005248;AC006045;AC006150;AC011229;AC073258;AC105459;AK124856;AK295668;AK304719;AMYH02015266;AMYH02015267;AMYH02015268;AMYH02015269;AMYH02015270;AMYH02015271;AMYH02015272;AMYH02015273;AMYH02015274;AMYH02015275;AX032742;AX032745;BC105005;BC143632;BC143633;CH236948;CH471073;DA321150;NG_029494;NM_004080;NM_145695;XM_005249628;XM_005249629;XM_005249630;XM_005249631;XR_428070;XR_428071 AAC25525;AAI05006;AAI43633;AAP21868;AAP22362;AAS07495;AAS07533;BAA34438;BAH12149;BAH14245;CAC09945;CAC09946;EAL24292;EAL24293;EAW93663;EAW93664;NP_004071;NP_663733;Q9Y6T7;XP_005249685;XP_005249686;XP_005249687;XP_005249688 Hs.567255 1644408;1654815;1666470;1673004;1703824;1704846;1704896;1713559;1714377;1714789;1717377;1795680;1854275;1856793;2141086;2157272;2169577;2171075;2179081;5037552;5491358 116XH6;AFMB347YE1;D7S1533;D7S2033;D8S2279;DGKB_583;EST-CFZ97756;G17150;G17164;G17177;GDB:1317276;GDB:1317914;GDB:1318446;RH120060;RH120179;RH120266;RH122179;RH48035;SHGC-78962;SHGC-79897;SHGC-79923 DAGK2;DGK;DGK-BETA;KIAA0718 90 kDa diacylglycerol kinase;DAG kinase beta;OTTHUMP00000201739;OTTHUMP00000201740;OTTHUMP00000201743;OTTHUMP00000201744;OTTHUMP00000201745;diacylglycerol kinase beta;diacylglycerol kinase, beta;diglyceride kinase beta APPROVED protein-coding ENSG00000136267 HGNC:2850 06819 604070 REVIEWED 1352279 DGKH diacylglycerol kinase, eta This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014] 13 13 13 q14.11 23680569 23861291 + 42614172 42804352 + 42040036 42230216 + 1580863;6480464;6907045;8554872 12477932;12810723;14702039;15057823;15489334;17486107;17620599;18029348;19308021;19328558;19478689;19710016;19818381;20189936;20379614;20519059;20733578;21507135;21548979;21654738;21988832;22048461;22396660;23177175;23443559;23934736;24068962;24250222;8702685;9438377 160851 A8K0I1;B4DYW1;Q86XP1 AB078967;AB078968;ABBA01021255;ABBA01021256;ABBA01021257;ABBA01021258;ABBA01021259;ABBA01021260;ABBA01021261;AI675047;AK054970;AK055427;AK090591;AK098302;AK122909;AK130015;AK289546;AK302631;AK302727;AL136527;AL139328;AL157932;AL833883;AMYH02027928;AMYH02027929;AMYH02027930;BC043292;BC044822;BM978856;CH471075;DR002010;NG_029191;NM_001204504;NM_001204505;NM_001204506;NM_001297429;NM_152910;NM_178009;NR_123714;NR_123715;XM_005266271 AAH43292;BAC05280;BAC66960;BAC66961;BAF82235;BAG63873;BAG63946;CAD38739;EAX08671;EAX08672;EAX08673;EAX08674;EAX08675;NP_001191433;NP_001191434;NP_001191435;NP_001284358;NP_690874;NP_821077;Q86XP1;XP_005266328 Hs.630380;Hs.659437;Hs.733239 1661944;1670849;1689767;1695372;1700292;1754675;1754817;1797474 D13S1355;DGKH_1379;RH103765;RH39631;SHGC-133032;SHGC-141737;SHGC-6155;SHGC-68342 DGK-eta;DKFZp761I1510 DAG kinase eta;DGKeta;OTTHUMP00000018326;OTTHUMP00000178584;diacylglycerol kinase eta;diglyceride kinase eta APPROVED protein-coding ENSG00000102780 HGNC:2854 07237 604071 REVIEWED 1603361 DGKK diacylglycerol kinase, kappa The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011] X X X p11.22 54155478 54257318 - 50111879 50213721 - 50368880 50470722 - 6480464;8554872 12477932;16210324;18029348;21113153;22371315;23177175;23728617 139189 Q5KSL6 AB183864;ABBA01060111;ABBA01060112;ABBA01060113;ABBA01060114;ABBA01060115;ABBA01060116;ABBA01060117;ABBA01060118;ABBA01060119;AC233286;AC239396;AI591038;AL357894;AL591367;AMYH02039360;AMYH02039361;BC137319;BC137320;CH471180;DB728104;NG_033143;NM_001013742 AAI37320;AAI37321;BAD86792;EAW89919;NP_001013764;Q5KSL6 Hs.38132;Hs.631770 1702876;1703104 DXS8307;sWXD1435 MRX68 142 kDa diacylglycerol kinase;DAG kinase kappa;DGK-kappa;diacylglycerol kinase kappa;diglyceride kinase kappa APPROVED protein-coding HGNC:32395 10299 300837 REVIEWED 1318208 DGKQ diacylglycerol kinase, theta 110kDa The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 889584 904387 - 952672 967348 - 958884 973560 - 1580863;6480464;6907045 10066731;12477932;12799190;15632189;17664281;18985386;19336002;20057501;20070850;20736409;22438815;22451204;22732145;22939629;23091060;23610160;23618683;23767959;24250222;24369117;8617502;8626538;9099683;9438377 1609 D6RJB4;H0Y8Q7;H0YA20;P52824;Q59FF7 AB209503;ABBA01019347;AC019103;AMYH02008564;AW139889;BC063801;CH471131;DN990411;GU727647;L38707;NM_001347;XM_006713863;XR_427469 AAA98749;AAH63801;ADU87648;BAD92740;EAW82630;EAW82631;EAW82632;NP_001338;P52824;XP_006713926 Hs.584858 1767858;2141662;2185816 A008Y17;RH78064;SHGC-68209 DAGK;DAGK4;DAGK7 DAG kinase theta;DGK-theta;OTTHUMP00000112179;OTTHUMP00000217323;diacylglycerol kinase theta;diglyceride kinase theta APPROVED protein-coding ENSG00000145214 HGNC:2856 03127 601207 REVIEWED 1343674 DGKI diacylglycerol kinase, iota This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008] 7 7 7 q32.3-q33 131813301 132270574 - 137074385 137531609 - 137389639 137846863 - 1302755;1580863;6480464;6907045;8554872 9830018 10706894;12690205;14702039;15894621;17986458;19065143;20379614;21203819;21502085;24468470 9162 E7EM72;E7EWQ4;E9PFX6;O75912 AB209167;ABBA01001143;ABBA01001144;ABBA01001145;ABBA01001146;ABBA01001147;ABBA01001148;ABBA01001149;ABBA01001150;ABBA01001151;AC009179;AC009245;AC022173;AC078842;AC090498;AK091081;AMYH02016842;AMYH02016843;AMYH02016844;AMYH02016845;AMYH02016846;AMYH02016847;AMYH02016848;AMYH02016849;AMYH02016850;CH236950;CH471070;KF454918;KF458619;KF458620;NM_004717;XM_006716172;XM_006716173;XM_006716174 BAD92404;BAG52281;EAL24051;EAW83873;EAW83874;EAW83875;EAW83876;NP_004708;O75912;XP_006716235;XP_006716236;XP_006716237 Hs.242947 1647772;1649226;1657485;1713779;1715413;1715769;1723925;1727453;1727911;1753277;1754583;1795686;2117268;2125423;2131948;2140860;2142364;2181869;7185265;7187078;7187436 D7S1593;D7S2341;D7S509;D7S766;DGKI_589;G18096;G62984;G63373;GDB:1318597;GDB:3754597;RH118693;RH119333;RH120539;RH120776;RH46201;RH66737;SHGC-132869;SHGC-34310;SHGC-80700 DGK-IOTA DAG kinase iota;OTTHUMP00000208492;OTTHUMP00000208493;OTTHUMP00000208494;OTTHUMP00000208597;diacylglycerol kinase iota;diglyceride kinase iota APPROVED protein-coding ENSG00000157680 HGNC:2855 07238 604072 REVIEWED 1323099 DGKD diacylglycerol kinase, delta 130kDa This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 227984663 228102014 + 234263149 234380744 + 233354503 233472098 + 1580863;6480464;6907045 10082674;11309392;11809841;12084710;12200442;12477932;12810723;14559993;15228384;15489334;16169070;17357084;18267070;18334213;20064931;20379614;20639394;20705733;20857926;21900206;22082156;22406787;22412388;23000965;23184957;24068962;8590280;8626538 8527 C9JY42;H7BZR7;H7C0L1;Q16760 AB078966;ABBA01001948;AC013726;AC019221;AK130440;AK307426;AK308846;AK311044;AMYH02006005;AMYH02006006;AMYH02006007;BC006561;BC032102;CH471063;D63479;D73409;NG_029495;NM_003648;NM_152879;XM_005246107;XM_005246108;XM_005246109;XM_005246110;XR_427118;XR_427119 AAH06561;AAY14862;AAY24321;BAA09766;BAA11134;BAC11809;BAC85352;EAW71047;EAW71048;EAW71049;EAW71050;NP_003639;NP_690618;Q16760;XP_005246164;XP_005246165;XP_005246166;XP_005246167 Hs.471675 1722251;1795682;2139412;2142986;2160664;2172087;2186369 DGKD__1189;G60032;RH25367;SGC31815;SGC34781;WI-13370;WIAF-1700 DGKdelta;FLJ26930;KIAA0145;dgkd-2 130 kDa diacylglycerol kinase;DAG kinase delta;DGK-delta;OTTHUMP00000164394;OTTHUMP00000203355;diacylglycerol kinase delta;diglyceride kinase delta APPROVED protein-coding ENSG00000077044 HGNC:2851 03492 601826 REVIEWED 4889297 DGKZP1 diacylglycerol kinase, zeta pseudogene 1 13 13 13 q14.11 25598618 25602005 + 44542459 44545846 + 43968323 43971710 + 400126 ABBA01021238;AL512506;AMYH02027950;NG_005323 1791274;1793312 MARC_9821-9822:996688622:1;PMC20810P1 pseudo HGNC:39263 INFERRED 6481325 DGUOK-AS1 DGUOK antisense RNA 1 ASSOCIATED WITH MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (inferred) 2 2 74185094 74208566 - 73957967 73981439 - 8554872 23273568 100874048 AA625191;ABBA01075593;AC073046;AI027152;AJ714278;AMYH02004084;AMYH02004085;CD701508;NR_104029;NR_104030 Hs.600674;Hs.661709 APPROVED ncrna ENSG00000237883 HGNC:43441 VALIDATED 733860 DGKZ diacylglycerol kinase, zeta The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010] 11 11 11 p11.2 46502317 46549682 + 46354455 46402104 + 46332905 46380554 + 1580863;1300048;6480464;6907045;8554872 11078732;11257115;11352924;12015310;12070163;12477932;12883552;12890670;14551255;14702039;14707140;15157668;15632115;16169070;16286473;17081983;17350623;17351151;17620599;17664281;18004883;18029348;18694729;19211846;19308020;20694011;21194521;21282530;21900206;21937721;21996351;22271650;22895365;23723068;24816145;8125298;8626588;9159104;9716136 8525 E9PK94;E9PKT3;E9PNL8;E9PNZ3;H0YDN6;H0YEG2;Q13574 AB209635;ABBA01060748;AC116021;AK097960;AK123378;AK124594;AK124693;AK126970;AK225774;AK293615;AK294888;AK300577;AK303322;AK312398;AMYH02024697;AMYH02024698;AMYH02024699;BC008018;BC041770;BU849628;BX370257;BX648433;BX649190;CB959911;CH471064;DC416889;NM_001105540;NM_001199266;NM_001199267;NM_001199268;NM_003646;NM_201532;NM_201533;U51477;U94905;XM_005253179;XM_005253180;XM_005253181;XM_005253182;XM_006718354;XM_006718355 AAB60859;AAC50478;AAH08018;AAH41770;BAC85599;BAC85894;BAC86770;BAD92872;BAH11548;BAH11915;BAH13309;BAH13942;CAE46208;EAW68006;EAW68007;EAW68008;EAW68009;NP_001099010;NP_001186195;NP_001186196;NP_001186197;NP_003637;NP_963290;NP_963291;Q13574;XP_005253236;XP_005253237;XP_005253238;XP_005253239;XP_006718417;XP_006718418 Hs.502461 1648159;1683934;1791274;1793312;1793314;1795688;5021982 DGKZ_1591;MARC_9821-9822:996688622:1;PMC20810P1;PMC20810P2;RH12588;RH48086;contig_66229 DAGK5;DAGK6;DGK-ZETA DAG kinase zeta;OTTHUMP00000232889;OTTHUMP00000232890;OTTHUMP00000232891;OTTHUMP00000233028;OTTHUMP00000233029;OTTHUMP00000238021;OTTHUMP00000238022;diacylglycerol kinase zeta;diacylglycerol kinase, zeta 104kDa;diglyceride kinase zeta;hDGKzeta APPROVED protein-coding ENSG00000149091 HGNC:2857 03260 601441 REVIEWED 1315197 DHCR24 24-dehydrocholesterol reductase This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008] 1 1 1 p32.3 53602965 53640513 - 55315300 55352921 - 54849627 54887248 - 1600897;1580863;2316868;2316857;6480464;7240710;8554872;8699517 11519011;12668600;16876788 11007892;12457401;12477932;15001630;15342556;15489334;15577914;15688385;15954227;16407971;16762343;17510943;17579359;17855807;17984220;18194465;18499757;18660489;18762779;18815215;19325144;19336370;19520779;19815556;19861417;19946888;20061631;20166102;20465827;20568014;20634891;20689807;21139048;21559050;21890473;21901424;21906983;21963094;21987572;21987590;22010141;22178193;22190034;22431021;22910610;23000965;23050906;23123430;23246001;23416078;24489783;24816145;4359325;7584026;7584028 1718 H7C4B7;Q15392 AB073391;ABBA01074707;AC096536;AF261758;AF398341;AI952034;AK298414;AK302774;AK304302;AK304421;AK304437;AK316419;AK316427;AMYH02001061;BC004375;BC011669;BP200916;BQ439951;CH471059;D13643;NG_008839;NM_014762 AAG17288;AAH04375;AAH11669;AAL15644;ABM84331;ABM87722;BAA02806;BAE45721;BAH12782;BAH13803;BAH14155;BAH14179;BAH14186;BAH14790;BAH14798;EAX06663;EAX06664;NP_055577;Q15392 Hs.498727 1658502;1670121;5491732 DHCR24;RH68204;SHGC-74871 DCE;KIAA0018;Nbla03646;SELADIN1;seladin-1 3 beta-hydroxysterol delta 24-reductase;3-beta-hydroxysterol delta-24-reductase;OTTHUMP00000011685;delta(24)-sterol reductase;desmosterol-to-cholesterol enzyme;diminuto/dwarf1 homolog;seladin 1;selective AD indicator 1 APPROVED protein-coding ENSG00000116133 HGNC:2859 05916 602398;606418 REVIEWED 1312453 DGUOK deoxyguanosine kinase In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p13 73985216 74017351 + 74153953 74186088 + 73926826 73958961 + 1580863;1601052;6480464;6907045;7240710;8554872;8699517 11687800 10951205;11294860;11337467;11427893;12054684;12205643;12210798;12477932;12535661;15150663;15489334;15639197;15883261;17065091;17073823;17490647;18205204;18600530;19394258;19502998;19900589;20301766;20843780;20877624;21107780;21546767;21832049;21890473;21906983;21988832;22505724;22990118;23000965;23043144;23273568;24816145;8692979;8706825;8975728 1716 D6W5I0;E5KSL5;E5KSL6;Q16854 ABBA01075593;AC073046;AI201630;AMYH02004084;AU099795;BC001121;BC015757;BC024019;BG708680;BU580854;CH471053;HQ206026;HQ206027;HQ206028;HQ206029;HQ206030;HQ206031;HQ206032;HQ206033;HQ206034;HQ206035;HQ206036;HQ206037;HQ206038;HQ206039;HQ206040;HQ206041;HQ206042;HQ206043;HQ206044;HQ206045;HQ206046;HQ206047;HQ206048;HQ206049;HQ206050;HQ206051;HQ206052;HQ206053;HQ206054;HQ206055;HQ206056;HQ206057;HQ206058;HQ206059;HQ206060;HQ206061;HQ206062;HQ206063;HQ206064;HQ206065;NG_008044;NM_080916;NM_080918;U41668;U62042;U81499;XM_005264173;XM_005264174;XR_244926 AAB39858;AAB48932;AAC50624;AAH01121;AAH15757;AAH24019;AAX88910;ADP91894;ADP91895;ADP91896;ADP91897;ADP91898;ADP91899;ADP91900;ADP91901;ADP91902;ADP91903;ADP91904;ADP91905;ADP91906;ADP91907;ADP91908;ADP91909;ADP91910;ADP91911;ADP91912;ADP91913;ADP91914;ADP91915;ADP91916;ADP91917;ADP91918;ADP91919;ADP91920;ADP91921;ADP91922;ADP91923;ADP91924;ADP91925;ADP91926;ADP91927;ADP91928;ADP91929;ADP91930;ADP91931;ADP91932;ADP91933;ADP91934;ADP91935;ADP91936;ADP91937;ADP91938;ADP91939;ADP91940;ADP91941;ADP91942;ADP91943;ADP91944;ADP91945;ADP91946;ADP91947;ADP91948;ADP91949;ADP91950;ADP91951;ADP91952;ADP91953;ADP91954;ADP91955;ADP91956;ADP91957;ADP91958;ADP91959;ADP91960;ADP91961;ADP91962;ADP91963;ADP91964;ADP91965;ADP91966;ADP91967;ADP91968;ADP91969;ADP91970;ADP91971;ADP91972;ADP91973;EAW99704;EAW99706;EAW99709;EAW99710;EAW99711;NP_550438;NP_550440;Q16854;XP_005264230;XP_005264231 Hs.469022 1797092;1852784 DGUOK;WI-12391 MTDPS3;dGK OTTHUMP00000160251;OTTHUMP00000160252;deoxyguanosine kinase, mitochondrial;mitochondrial deoxyguanosine kinase APPROVED protein-coding ENSG00000114956 HGNC:2858 03273 251880;601465 REVIEWED 736871 DHFR dihydrofolate reductase Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014] 5 5 5 q11.2-q13.2 75825049 75854857 - 79922045 79950800 - 80626226 80654981 - 1580863;1298877;6480464;6907045;7240710;7242557;7242561;8699517;8554872 11502523;22108709;22332074 10749676;10898545;11448909;11779239;11964483;11996001;12084458;12096917;12384595;12477932;12588981;12612070;12788094;12812497;14664697;14679136;14735580;15039552;15489334;15755837;15817466;16116078;16124424;16196087;16467096;16735474;16969375;17237763;1731871;17336564;17413111;17449906;17486595;17597297;17683969;17917571;18045573;18056255;18093916;18247058;18451149;18498051;18636124;18676680;18682947;18785313;18799873;18818748;18988749;19019335;19022952;19048631;19055622;19064572;19064578;19161160;19170196;19196009;19336370;19353223;1935897;19360472;19461557;19471022;19493349;19527514;19533788;19536847;19578876;19625176;19666584;19683694;19692168;19706381;19727391;19776634;19861437;19898482;19913121;20031554;20237949;20347265;20472929;20544798;20615890;20628086;20634891;20639865;20670920;20737570;20834190;20948192;21120433;21310276;21310277;21857842;21890473;21906983;21963094;22005284;22024482;22324981;2248959;22505724;22797925;22954684;22994778;23000965;23053953;23197646;23421317;23707606;23726796;23733948;23838799;23903781;24053334;24077226;24361572;24498949;24810856;2592384;2859520;3185016;3383852;6235374;6306253;6323448;6504041;6687716;6750132;8527095;8559246;8976559;9119086;9374868 1719 B0YJ76;B4DM58;P00374 AA489055;ABBA01062044;ABBA01062045;AC008434;AC010270;AK293146;AK297302;AK308492;AK312642;AMYH02011673;BC000192;BC003584;BC009634;BC070280;BC071996;CB988944;CH471084;EU145592;J00139;J00140;NG_023304;NM_000791;NM_001290354;NM_001290357;NR_110936;V00507;X00855;XM_005248455 AAA58484;AAA58485;AAH00192;AAH03584;AAH70280;AAH71996;ABM83742;ABM87061;ABX57718;BAG35526;BAG56693;BAG59770;CAA23765;CAA25409;EAW95859;EAW95860;NP_000782;NP_001277283;NP_001277286;P00374;XP_005248512 Hs.592364;Hs.648635 1685271;1792108;1792356;1792358;1792360;1792370;1793876;1794924;1795044;2114875;5014479;5015961;5016769;5023539;5037552;5113655;5113659;5120544;5126841 D15S1477;D8S2279;GDB:344962;PMC137126P1;PMC149466P1;PMC149466P2;PMC149466P3;PMC149466P8;PMC149466P9;PMC303366P3;PMC316374P5;PMC85091P1;PMC89807P1;RH68956;RH69621;RH70434;RH79212;STS-AA010576;WI-18379 DHFRP1;DYR OTTHUMP00000222282;OTTHUMP00000222283;OTTHUMP00000222285;OTTHUMP00000222286 APPROVED protein-coding ENSG00000228716 HGNC:2861 00519 126060;613839 REVIEWED 731755 DHCR7 7-dehydrocholesterol reductase This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009] 11 11 11 q13.4 68438984 68453003 - 71145457 71159477 - 71434411 71448431 - 734884;1580863;1600899;1300048;2316918;2316868;2316857;6480464;7240710;8554872;8699517 11230174;12668600;16876788;9683613;9831636 10602371;10677299;10719329;10814720;10995508;11078571;11111101;11161831;11175299;11298379;11427181;11503168;11562938;11767235;11857552;12116246;12477932;12794707;12833423;12949967;14556255;14981719;15286151;15489334;15521979;15776424;15954111;15979035;16196087;16344560;16497572;17353931;17441222;17595012;17855807;17965227;18006960;18249054;18660489;19336370;19365639;19390132;19406241;19598235;19913121;19940018;19946888;20301322;20301612;20418485;20541252;20628086;20634891;20635399;21139048;21441443;21696385;21890473;21906983;21963094;21972121;21987572;22130326;22182693;22211794;22390397;22505724;22576297;22678362;22801813;23125841;23321614;23333304;23377224;23636220;23730842;23734184;24184224;24722188;24816145;25027693;7560069;9465114;9634533;9653161;9878250 1717 E9PIP9;E9PJ54;E9PLZ2;E9PM00;E9PQ71;E9PRL8;H0YCS7;H0YE57;H0YEJ5;Q9UBM7 ABBA01017551;AF034544;AF062481;AF067127;AF096305;AF110060;AI888720;AK289497;AK303881;AK309625;AK312775;AMYH02025067;AP002387;BC000054;BU848891;CH471076;DA502590;KJ534821;KJ534963;KJ534997;NG_012655;NM_001163817;NM_001360 AAC05086;AAC18345;AAD02816;AAD09766;AAD24762;AAH00054;ABM82753;ABM85940;AHW56461;AHW56603;AHW56637;BAF82186;BAG35639;BAG64817;EAW74788;EAW74789;EAW74790;EAW74791;NP_001157289;NP_001351;Q9UBM7 Hs.503134 1722417;1737807;1774111;2108011;2119343;2126969;5017943 D10S2392;D11S3420;DHCR7_8297;G60282;MARC_54881-54882:1155673275:1;WI-13500;WI-16597 SLOS 7-DHC reductase;OTTHUMP00000235751;OTTHUMP00000235752;OTTHUMP00000235756;delta-7-dehydrocholesterol reductase;putative sterol reductase SR-2;sterol Delta(7)-reductase;sterol delta-7-reductase APPROVED protein-coding ENSG00000172893 HGNC:2860 04174 270400;602858 REVIEWED 1354176 DHFRP2 dihydrofolate reductase pseudogene 2 6 6 6 p21.33 32933605 32937103 - 31331244 31334742 - 31363467 31366965 - 22493691;23001997;3341383;6961421;9689108 729816 ABBA01038073;AC004182;AL669854;AL671883;AL845443;AMYH02013449;BX248310;BX927178;J00143;J00144;J00145;NG_001113 1741525;2106151;2189579 C1_4_1;D6S2927;GDB:181306 pseudo HGNC:2863 INFERRED 1323083 DHDDS dehydrodolichyl diphosphate synthase The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 p36.11 25156022 25195012 + 26758773 26797797 + 26432282 26471306 + 6480464;6907045;8699517;7240710;8554872 12477932;12591616;14652022;14702039;15110773;15489334;15850770;20301507;20301590;20379614;20736409;21295282;21295283;21906983;21963094;21987572;22505724;24250222;24664694 79947 E9PI09;E9PI64;E9PKJ5;E9PL99;E9PR24;E9PRS7;E9PSH7;H0Y4T1;Q5T0A0;Q5T0A1;Q5T0A2;Q5T0A3;Q5T0A6;Q86SQ9 AB090852;ABBA01034910;AK023164;AK297134;AK308187;AK316485;AL513365;AMYH02000568;AW294595;BC003643;BC004117;BC034152;BQ028814;BX648507;CH471059;FB335092;FB335138;GU727641;HH766431;HH766477;NG_029786;NM_001243564;NM_001243565;NM_024887;NM_205861;XM_006710912;XM_006710913;XM_006710914;XM_006710915;XM_006710916;XM_006710917;XM_006710918;XM_006710919;XM_006710920 AAH03643;AAH04117;AAH34152;ADU87642;ADZ15897;BAB14439;BAC57588;BAH12505;BAH14856;CAR80515;CAR80538;CBX83986;CBX84009;EAX07806;EAX07807;EAX07808;EAX07809;EAX07810;EAX07811;EAX07812;NP_001230493;NP_001230494;NP_079163;NP_995583;Q86SQ9;XP_006710975;XP_006710976;XP_006710977;XP_006710978;XP_006710979;XP_006710980;XP_006710981;XP_006710982;XP_006710983 Hs.369385 1744663;1748853 GDB:549187;SHGC-110517 CIT;CPT;DS;FLJ13102;HDS;RP59 OTTHUMP00000003664;OTTHUMP00000003665;OTTHUMP00000038071;OTTHUMP00000038072;OTTHUMP00000038073;OTTHUMP00000234798;OTTHUMP00000234799;cis-IPTase;cis-isoprenyltransferase;cis-prenyl transferase;dedol-PP synthase;epididymis tissue protein Li 189m APPROVED protein-coding ENSG00000117682 HGNC:20603 12183 608172;613861 REVIEWED 1346952 DHOF dermal hypoplasia, focal ASSOCIATED WITH Focal Dermal Hypoplasia (inferred) 7240710 1724 HGNC:2868 305600 1342824 DHFRP1 dihydrofolate reductase pseudogene 1 ENCODES a protein that exhibits dihydrofolate reductase activity; drug binding; mRNA binding; INVOLVED IN tetrahydrofolate metabolic process; FOUND IN cytosol (inferred); nucleoplasm (inferred) 5 18 18 q11.2 95322145 95322744 + 23747826 23751321 - 26167862 26171357 - 12096917;12657784;12925791;15039552;15489334;15681865;16222560;1731871;17569517;19196009;19478082;19719239;22201119;2248959;3341383;3383852;6235374;6306253;6323448;6687716;6961421;7890613;9374868;9719595 573971 AC016839;AMYH02034453;J00141;NG_005427 P00374 1685271;1792108;1792370;1793876;1794924;1795044 PMC137126P1;PMC149466P9;PMC303366P3;PMC85091P1;PMC89807P1;RH70434 pseudo HGNC:2862 INFERRED 1346515 DHFRL1 dihydrofolate reductase-like 1 ENCODES a protein that exhibits dihydrofolate reductase activity; mRNA binding; INVOLVED IN tetrahydrofolate metabolic process; thymidine biosynthetic process; FOUND IN mitochondrial inner membrane; mitochondrial matrix; mitochondrion; INTERACTS WITH copper(2+) sulfate; cyclosporin A; genistein 3 3 3 q11.1 92160656 92165546 - 93776766 93782233 - 94057922 94063223 - 737633;6480464 12477932 14702039;15489334;17207965;18447718;21044950;21876184;21876188;24122410 200895 C9JJ68;Q86XF0 ABBA01026969;AC130896;AC245469;AK122674;AL832912;AW104373;BC045541;BC063379;CH471052;NM_001195643;NM_176815 AAH45541;AAH63379;ADQ32471;BAG53658;CAH10617;EAW79895;EAW79896;NP_001182572;NP_789785;Q86XF0 Hs.718516 1685828;1770948;2140677;5016769;5113659;5120544;5126841 GDB:344962;PMC149466P8;RH68956;RH69370;RH79212;SHGC-30466;SHGC-36500 DHFRP4;FLJ16119 OTTHUMP00000213863;OTTHUMP00000213864;OTTHUMP00000213865;OTTHUMP00000213866;dihydrofolate reductase pseudogene 4;dihydrofolate reductase, mitochondrial;dihydrofolate reductase-like protein 1 protein-coding ENSG00000178700 HGNC:27309 11246 VALIDATED 1345874 DHH desert hedgehog This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010] 12 12 12 q13.1 48277990 48283388 - 49483204 49488602 - 49089421 49094819 - 1601053;1580863;5510013;5510025;6480464;6484113;6907045;7240710;8554872;8699517 11017805;20716670;20844013 10050855;10640830;10773676;11435703;11990454;12477932;15356051;15489334;15839736;16390857;18788453;19074837;19561611;20081366;20301714;21193222;21816240;22123293;22504420;22514309;23786321;24127550;9811851 50846 O43323 AB010994;ABBA01031503;AC011603;AK313360;AMYH02026434;BC033507;CH471111;CS126483;CS464813;HQ607677;HQ607678;NG_008973;NM_021044;U59748 AAB03398;AAH33507;AEF38366;AEF38367;BAA24866;BAG36160;CAJ18811;CAM31804;EAW58039;NP_066382;O43323 Hs.524382 1728981;2162745 Dhh;RH47641 GDXYM;HHG-3;MGC35145;SRXY7 OTTHUMP00000243727;desert hedgehog homolog;desert hedgehog protein;mutant desert hedgehog APPROVED protein-coding ENSG00000139549 HGNC:2865 05664 233420;605423;607080 REVIEWED 1603266 DHRS13 dehydrogenase/reductase (SDR family) member 13 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN membrane; INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene 17 17 17 q11.2 24084215 24089505 - 27224799 27230089 - 28897781 28903071 - 6480464 12477932;12975309;19027726;19946888;21890473;21963094;22505724 147015 B4DJC5;Q6UX07 ABBA01015037;AC024267;AK296017;AMYH02033233;AY358566;BC015582;BQ052759;CH471159;NM_144683;XR_429869 AAH15582;AAQ88929;BAG58787;EAW51153;EAW51159;NP_653284;Q6UX07 Hs.631760 1681809;1687383 RH17814;RH78255 MGC23280;SDR7C5 OTTHUMP00000163521;OTTHUMP00000163522;dehydrogenase/reductase SDR family member 13;short chain dehydrogenase/reductase family 7C, member 5 protein-coding ENSG00000167536 HGNC:28326 14488 VALIDATED 1602903 DHPS deoxyhypusine synthase This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011] 19 19 19 p13.2 12676248 12682391 - 12786531 12792701 - 12675717 12681887 - 6480464 10229683;12477932;12562768;12788913;14622290;14749535;15100216;15489334;16159877;16189514;16344560;16452303;17207965;17353931;17476569;19055622;19060904;19997760;20439316;21139048;21890473;21906983;21963094;22491477;22505724;22863883;22927971;23602568;24722188;7673224;7750572;7929297;8549832;8615810;8619474;8812510;9110174;9493264;9666110 1725 B4E3M2;M0QX43;M0QXT2;M0QYZ7;M0QZT3;M0R0J4;M0R0V2;M0R1T2;M0R1T4;M0R253;M0R264;P49366;Q5J8M5 ABBA01029781;ABBA01029782;AC010422;AJ001701;AK291553;AK300498;AK304780;AL520040;AMYH02035550;AMYH02035551;AW250887;AY336090;BC000333;BC014016;BU844677;CH471106;DA524549;L39068;NM_001206974;NM_001930;NM_013406;NR_038192;U26266;U32178;U40579;U79262 AAA86282;AAA96151;AAB02175;AAB02179;AAB50208;AAH00333;AAH14016;AAR24620;ACE86483;ACE87164;ADQ32057;BAF84242;BAG62212;BAG65534;CAA04940;EAW84287;EAW84288;EAW84289;EAW84290;EAW84291;EAW84292;EAW84293;EAW84294;NP_001193903;NP_001921;NP_037538;P49366 Hs.79064 1734672;2118878;2145110 D19S623E;D19S677E;WI-19573 DHS;DS;MIG13 migration-inducing gene 13 APPROVED protein-coding ENSG00000095059 HGNC:2869 02969 600944 REVIEWED 1323810 DHDH dihydrodiol dehydrogenase (dimeric) This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46304300 46315587 + 49436939 49448226 + 48933682 48944969 + 1580863;6480464;6907045 10477285;11097839;11306093;12477932;18600452;18676680;19170196;19625176;19692168;19773279;23303836;24734329 27294 E5RFE0;E5RGT8;H0YBU7;Q9UQ10 AB021933;ABBA01032955;ABBA01032956;AC026803;AC245081;BC032730;BF510979;CH471177;KF456594;NM_014475;XM_005258748 AAH32730;ABM81808;ABM84962;BAA83490;EAW52414;NP_055290;Q9UQ10;XP_005258805 Hs.631555 2DD;HUM2DD 3-deoxyglucosone reductase;D-xylose 1-dehydrogenase;D-xylose-NADP dehydrogenase;OTTHUMP00000228207;OTTHUMP00000228209;OTTHUMP00000228210;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase APPROVED protein-coding ENSG00000104808 HGNC:17887 08399 606377 REVIEWED 1352104 DHRS1 dehydrogenase/reductase (SDR family) member 1 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008] 14 14 14 q12 4624421 4633663 - 24759804 24769039 - 24290598 24299833 - 6480464;8554872 11076863;11230166;11256614;12153138;12477932;14702039;15489334;15489336;16189514;16344560;16381901;18029348;19027726;20877624;21139048;21319273;21890473;21906983;21963094;22053931;23000965 115817 H0YNC2;Q96LJ7 ABBA01061340;AF418205;AK058159;AK126383;AL050217;AL096870;AL833917;AMYH02028880;BC014057;BC015943;BC036845;BX247980;CH471078;DB272453;NM_001136050;NM_138452;XR_245662 AAH14057;AAH15943;AAN32660;BAB71694;CAD38773;CAD62314;CAL37921;CAL38469;EAW66036;EAW66037;EAW66038;EAW66039;EAW66040;NP_001129522;NP_612461;Q96LJ7 Hs.348350 1696450;1712298;1736442;1767271;2110363;2139970;2139972;2186099;5014029;5022578;5118576 A002B19;D11S3430;D13S1639;D14S704E;D1S1423;DHRS1_8127;G19887;G54058;RH78575;SHGC-31972;SHGC-79760 DKFZp586I0523;FLJ14250;FLJ25430;MGC20204;SDR19C1 OTTHUMP00000028176;OTTHUMP00000164786;dehydrogenase/reductase SDR family member 1;short chain dehydrogenase/reductase family 19C, member 1 APPROVED protein-coding ENSG00000157379 HGNC:16445 09914 610410 REVIEWED 1352138 DHRS4L1 dehydrogenase/reductase (SDR family) member 4 like 1 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole (ortholog); 6-propyl-2-thiouracil (ortholog); amiodarone (ortholog) 14 14 14 q11.2 4370185 4385059 + 24476218 24520586 + 24007009 24051377 + 70713;6480464;8554872 10333503 12477932;12508121;20525226;22891334;23000965;23036705 728635 P0CG22 ABBA01061329;ABBA01061330;AL136295;AL136419;AMYH02028878;BC171914;BC171918;DA776573;GQ871921;GQ871922;GQ871923;GQ871924;GQ871925;GQ871926;NM_001277864;NR_102687;NR_102688;NR_102689;NR_102691;NR_102692;NR_102693;NR_102694;XM_006720246 NP_001264793;P0CG22;XP_006720309 Hs.647569;Hs.743442 5023323;5111563 SHGC-64141;T15928 SDR25C4 Putative dehydrogenase/reductase SDR family member 4-like 2;short chain dehydrogenase/reductase family 25C, member 4 protein-coding HGNC:19732 615195 VALIDATED 1605940 DHRS12 dehydrogenase/reductase (SDR family) member 12 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 13 13 13 q14.3 33391333 33426929 - 52330614 52379667 - 51756484 51805526 - 6480464 12477932;14702039;17207965;17403666;19027726 79758 A0PJE2 AA831151;ABBA01051051;AK023701;AL136525;AL162377;AMYH02028038;BC009825;BC026024;CH471075;DB481446;HH961766;NM_001031719;NM_001270424;NM_024705;R60032;XM_005266526;XM_005266527;XM_005266528;XM_005266529;XM_005266530;XM_005266531;XM_005266532 A0PJE2;AAH09825;AAH26024;ADQ31839;BAB14646;CBX51356;EAX08884;EAX08885;EAX08886;EAX08887;EAX08888;EAX08889;NP_001026889;NP_001257353;NP_078981;XP_005266583;XP_005266584;XP_005266585;XP_005266586;XP_005266587;XP_005266588;XP_005266589 Hs.266728 1698290;1721765;1736346;1738411;1738433;1762607;1847693;2111896;2123541;2148697 D13S201;D13S670E;D13S683E;D13S854E;G59751;HSC15G062;RH102682;SHGC-146411;STS-N21417;WI-21955 FLJ13639;SDR40C1 OTTHUMP00000018441;OTTHUMP00000215088;OTTHUMP00000215089;dehydrogenase/reductase SDR family member 12;short chain dehydrogenase/reductase family 40C, member 1 APPROVED protein-coding ENSG00000102796 HGNC:25832 07833 REVIEWED 1321774 DHRS2 dehydrogenase/reductase (SDR family) member 2 ENCODES a protein that exhibits carbonyl reductase (NADPH) activity; INVOLVED IN cellular response to oxidative stress; myeloid dendritic cell differentiation; negative regulation of apoptotic process; FOUND IN cytoplasm; extracellular vesicular exosome; mitochondrion; INTERACTS WITH (-)-demecolcine; 1-fluoro-2,4-dinitrobenzene; 1-phenyl-1,2-propanedione 14 14 14 q11.2 3968304 3977579 + 24099324 24114848 + 23630115 23645639 + 1580863;6480464 11944995;11997086;12477932;14702039;15047060;15489334;16367916;16685466;17207965;17620599;1847869;19027726;19443906;20547751;20949095;21139048;21890473;21988832;23000965;23036705;24337577;7556196;8125298 10202 C9JZP6;H0YJG9;H0YJP4;Q13268 AB209653;ABBA01061325;AF244132;AK000345;AK092834;AK222857;AK309945;AK309975;AL135999;AMYH02028872;BC002786;BC007339;CH471078;NM_005794;NM_182908;U31875;XM_005267249;XM_006720000;XM_006720001;XM_006720002;XR_245654;XR_429285;XR_429286 AAA82048;AAG33703;AAH02786;AAH07339;ADQ32908;BAD92890;BAD96577;EAW66130;EAW66131;NP_005785;NP_878912;Q13268;XP_005267306;XP_006720063;XP_006720064;XP_006720065 Hs.272499 2157735;2165883;2217254;5019549 DHRS2_3522;G49463;RH47141;RH71221 FLJ20338;HEP27;SDR25C1 OTTHUMP00000164601;OTTHUMP00000164602;OTTHUMP00000246278;OTTHUMP00000246283;OTTHUMP00000246284;dehydrogenase/reductase SDR family member 2;dehydrogenase/reductase SDR family member 2, mitochondrial;dehydrogenase/reductase member 2;dicarbonyl reductase HEP27;protein D;short chain dehydrogenase/reductase family 25C, member 1;short-chain alcohol dehydrogenase family member protein-coding ENSG00000100867 HGNC:18349 07483 615194 VALIDATED 1353509 DHRS4L2 dehydrogenase/reductase (SDR family) member 4 like 2 This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 14 14 14 q11.2 4303721 4385062 + 24439083 24475617 + 23969874 24006408 + 6907045;6480464 10333503;12477932;12508121;12975309;14702039;15473316;15489334;16204458;16344560;17207965;17230527;18754758;20525226;23000965;23036705 317749 D3YTE6;D5KJA1;D5KJA2;E9PFL3;F5H660;F6TD35;H0YKN3;H0YLE1;H0YN69;Q6E0Y0;Q6PKH6 ABBA01061328;ABBA01061329;AI087304;AK021587;AK301373;AL136419;AMYH02028876;AMYH02028877;AMYH02028878;AY616183;AY920361;AY920362;AY943857;BC000663;BC006125;BC101812;BC101814;DA738374;DB449220;DN237881;DN237882;DQ088987;DQ088988;GU564234;GU564235;KC237375;NG_023545;NM_001193635;NM_001193636;NM_001193637;NM_198083 AAH00663;AAT70758;AAX49568;AAZ85982;ADD92526;ADD92527;ADQ32943;AGJ72857;BAG62915;NP_001180564;NP_001180565;NP_001180566;NP_932349;Q6PKH6 Hs.743442 1764345;2129672;2134695;2153049;2156684;2157872;2181368;2217256;5022651;5023323;5111563 A007G16;D11S2921;DHRS4L2_3647;G31120;G35550;G35610;G36263;RH44509;SHGC-147946;SHGC-64141;T15928 FLJ11525;MGC905;SDR25C3 NADP(H)-dependent retinol dehydrogenase/reductase short isoform-like protein;OTTHUMP00000027962;dehydrogenase/reductase (SDR family) member 4 like 2A3;dehydrogenase/reductase SDR family member 4-like 2;short chain dehydrogenase/reductase family 25C, member 3 APPROVED protein-coding ENSG00000187630 HGNC:19731 10880 615196 REVIEWED 1313699 DHRS3 dehydrogenase/reductase (SDR family) member 3 Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009] 1 1 1 p36.1 11739647 11790328 - 12627939 12677820 - 12567910 12618361 - 1580863;6480464;6907045;8554872 10800688;11861404;12226107;12477932;12975309;15489334;16710414;17286855;18676742;19027726;19322201;20379614;20543567;21659514;21890473;21906983;21963094;8125298;9705317 9249 O75911;Q5SUY4 ABBA01003089;ABBA01003090;ABBA01003091;ABBA01003092;ABBA01003093;ABBA01003094;AC244670;AC254633;AF061741;AF179237;AK222593;AK225057;AK310202;AK312961;AL039062;AL513016;AL592487;AL645761;AMYH02000308;AY358093;BC002730;BF037805;BX648476;CH471130;DQ426869;NM_004753;XM_005263533;XM_005263534;XM_006711036 AAC63263;AAD55402;AAH02730;AAQ88460;ABD90534;ABM83932;ABM87251;BAD96313;BAG35800;CAI46033;EAW71743;NP_004744;O75911;XP_005263590;XP_005263591;XP_006711099 Hs.289347 1339850;1682009;1712132;1733088;2115912;2122503;2129916;2145478 D1S1422;D1S2718;D1S3510;G34854;G54116;RH91384;SHGC-74223;WI-16826 DD83.1;RDH17;Rsdr1;SDR1;SDR16C1;retSDR1 OTTHUMP00000001866;retinal short-chain dehydrogenase/reductase 1;short chain dehydrogenase/reductase family 16C, member 1;short-chain dehydrogenase/reductase 1;short-chain dehydrogenase/reductase 3 APPROVED protein-coding ENSG00000162496 HGNC:17693 09915 612830 VALIDATED 1351560 DHRS4-AS1 DHRS4 antisense RNA 1 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; ethyl methanesulfonate 14 14 14 q11.2 4270576 4286934 - 24407940 24424298 - 23938731 23955112 - 737633;6480464 12477932 16344560;22891334 55449 Q86U40;Q9P1J3 ABBA01061328;AF116636;AL136419;AMYH02028876;BC013143;BC062348;BC080582;BF206895;BX247982;BX447332;BX482101;BX647964;DA439818;DB254318;HQ845197;HQ845198;JQ979294;KJ545484;KJ574270;KJ574273;KJ574274;KJ599456;KJ599458;KJ599459;KJ599460;KJ599461;LN608491;LN608492;NR_023921;NR_023922;NR_023923;NR_023924 AAF71059;CAD62316;Q9P1J3 Hs.569361 2126136;2156684;5109839 D17S877;G35610;RH69512 AS1DHRS4;C14orf167;PRO1488 APPROVED ncrna ENSG00000215256 HGNC:23175 VALIDATED 68497 DHODH dihydroorotate dehydrogenase (quinone) The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008] 16 16 16 q22 56356753 56373075 + 72042643 72059316 + 72008744 72025417 + 1580863;2316231;2316235;5133412;5132591;5132618;6480464;6907045;8699517;7240710;8554872 1476792;15096496;15182735;6331524;9918599 10673429;10727948;11012787;11248707;12052230;12477932;1446837;14702039;15489334;16341674;16344560;17004840;18672895;18951430;19207032;19605743;19915526;20220176;20399851;20877624;21430780;21906983;21988832;22692683;22939629;22966891;22967083;23216091;24250222;24816145;7487077;8211381;8925840;9693067 1723 I3L449;I3NI32;J3QRJ4;J3QRQ3;Q02127 ABBA01016796;AC009087;AC009127;AI499306;AK097300;AK292293;AMYH02032334;AU130529;AU152444;BC065245;BE789211;BI253747;BM795077;CH471166;M94065;NG_016271;NM_001361;XM_005255827;XM_005255828;XM_005255829 AAA50163;AAH65245;BAF84982;EAW59198;EAW59199;EAW59200;EAW59201;NP_001352;Q02127;XP_005255884;XP_005255885;XP_005255886 Hs.654427 1659457;1682199;2148176;2218484 D16S2969;DHODH_4702;RH98941;SHGC-61050 URA1 DHOdehase;POADS;dihydroorotate dehydrogenase (quinone), mitochondrial;dihydroorotate dehydrogenase, mitochondrial;dihydroorotate oxidase;human complement of yeast URA1 APPROVED protein-coding ENSG00000102967 HGNC:2867 00521 126064;263750 REVIEWED 1601851 DHRS11 dehydrogenase/reductase (SDR family) member 11 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH (-)-demecolcine; copper(2+) sulfate; cyclosporin A 17 17 17 q12 31770502 31779510 + 34948226 34957233 + 36591786 36600804 + 6480464 12477932;12975309;14702039;15489334;19027726 79154 Q6UWP2 AB209247;ABBA01012428;AC003042;AC243732;AK026196;AK096551;AK315735;AY358712;BC002731;BG037061;CH471199;CR457356;HB961756;HD019166;NM_024308;XM_005257658;XM_006722077;XM_006722078;XM_006725346;XM_006725347;XM_006725348 AAH02731;AAQ89074;BAB15390;BAD92484;BAG38090;CAG33637;CBG15501;CBV28947;EAW57568;EAW57569;EAW57570;NP_077284;Q6UWP2;XP_005257715;XP_006722140;XP_006722141;XP_006725409;XP_006725410;XP_006725411 Hs.462859 2120713;2160516 RH78009;STS-T49181 ARPG836;FLJ39232;MGC4172;SDR24C1 OTTHUMP00000164066;dehydrogenase/reductase SDR family member 11;short chain dehydrogenase/reductase family 24C, member 1;short-chain dehydrogenase/reductase protein-coding ENSG00000278535 HGNC:28639 08331 VALIDATED 1602060 DHRS7C dehydrogenase/reductase (SDR family) member 7C ENCODES a protein that exhibits retinol dehydrogenase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); longitudinal sarcoplasmic reticulum (inferred); sarcoplasmic reticulum membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); clofibrate (ortholog); dexamethasone (ortholog) 17 17 17 p13.1 9707201 9727047 - 9674751 9694894 - 9771434 9791577 - 6480464;8554872 12477932;19027726;22143674 201140 A6NNS2;I3NI52 ABBA01054962;AC027045;AI091419;AI168267;AMYH02032955;AX320639;AX320641;BC147024;BC147025;BC171909;DN831946;DN831947;NM_001105571;NM_001220493;XM_005256510;XM_005256511 A6NNS2;AAI47025;AAI47026;AAI71909;CAD19397;CAD19398;NP_001099041;NP_001207422;XP_005256567;XP_005256568 Hs.61684 1690530 RH79746 SDR32C2 dehydrogenase/reductase SDR family member 7C;short chain dehydrogenase/reductase family 32C, member 2 protein-coding ENSG00000184544 HGNC:32423 VALIDATED 736293 DHRS9 dehydrogenase/reductase (SDR family) member 9 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 2 2 2 q31.1 163546627 163578019 + 169921299 169952677 + 169064789 169096167 + 6480464;6771322;6484672;6771354;6907045 15950969;21138835;21621639 10800688;11294878;11304534;12477932;12618084;12975309;15190067;15489334;16344560;16691198;17207965;17244623;19027726;23383108 10170 C9J430;Q9BPW9 ABBA01004962;AC007556;AC008177;AF067174;AF240697;AF240698;AF295380;AF343729;AF529286;AF529287;AF529288;AK296625;AK313220;AMYH02005176;AY017349;AY359046;BC040380;BC051797;BC058883;CA307349;CH471058;DB010228;NM_001142270;NM_001142271;NM_001289763;NM_005771;NM_199204;XM_005246230 AAD32458;AAF82747;AAF82748;AAG49422;AAH58883;AAK37528;AAL37037;AAN04008;AAN04009;AAN04010;AAQ89405;AAX88964;AAY24306;ACT64548;ACT64549;ADQ32590;BAG36032;BAH12402;EAX11282;EAX11283;EAX11284;NP_001135742;NP_001135743;NP_001276692;NP_005762;NP_954674;Q9BPW9;XP_005246287 Hs.179608 1645009;1707986;2107015 D2S2075;DHRS9_3520.2;SHGC-84657 3-alpha-HSD;3ALPHA-HSD;RDH-E2;RDH-TBE;RDH15;RDHL;RDHTBE;RETSDR8;SDR9C4 3-alpha hydroxysteroid dehydrogenase;NADP-dependent retinol dehydrogenase/reductase;OTTHUMP00000163043;OTTHUMP00000204923;OTTHUMP00000204925;OTTHUMP00000204926;OTTHUMP00000205057;dehydrogenase/reductase SDR family member 9;retinol dehydrogenase homolog;short chain dehydrogenase/reductase family 9C, member 4;short-chain dehydrogenase/reductase retSDR8;tracheobronchial epithelial cell-specific retinol dehydrogenase protein-coding ENSG00000073737 HGNC:16888 09916 612131 REVIEWED 1601764 DHRS7B dehydrogenase/reductase (SDR family) member 7B This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008] 17 17 17 p12 21447631 21512215 - 21030241 21095285 + 21126928 21191972 + 6480464 10810093;11230166;12477932;12975309;14702039;16169070;16344560;19027726;19615732;19946888;21139048;21832049;21890473;21906983;22797925;22939629;22990118;23720494;24163370;24250222 25979 J3KRS1;J3QKT1;J3QLJ8;J3QLK1;Q6IAN0 ABBA01050458;ABBA01050459;ABBA01050460;AC087393;AF151851;AI018764;AK124055;AK309867;AL117567;AMYH02033197;AMYH02033198;AMYH02033199;AY358498;BC004126;BC009679;BI460496;BQ181209;CH471210;CR457124;DA653503;NM_015510;XM_005256595;XM_005256596 AAD34088;AAH04126;AAH09679;AAQ88862;CAB55997;CAG33405;EAX02596;EAX02597;NP_056325;Q6IAN0;XP_005256652;XP_005256653 Hs.386989 1675967;2128030;5015961;5022200;5022578;5037552;5109281 D15S1477;D1S1423;D1S1425;D8S2279;L18426;RH65109;RH75346 CGI-93;DKFZp566O084;FLJ42061;FLJ99908;MGC8916;SDR32C1 dehydrogenase/reductase SDR family member 7B;short chain dehydrogenase/reductase family 32C, member 1 APPROVED protein-coding ENSG00000109016 HGNC:24547 13215 VALIDATED 1344132 DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 6 6 6 p21.3 32219005 32238967 - 30620896 30640830 - 30653119 30673053 - 1304478;1580863;6480464;6907045 9547260 12421765;12477932;15302935;15489334;16159877;16344560;16702430;16713569;17081983;18029348;19851445;20360068;20423332;20453000;20508642;20841358;21139048;21832049;21906983;22113938;22365833;22505724;22586326;22939629;22944692;23000965;2479028;24816145;25036637;9628581 8449 A2AB15;B4DZ28;O60231;Q5SQH4;Q5SQH5 AB001601;AB088098;AB103604;AB202095;ABBA01038052;AF119860;AK302721;AK312264;AL662798;AL732442;AL845353;AMYH02013437;BA000025;BC002789;BC008825;BC009392;BQ772493;BX119957;BX908728;CH471081;CR753328;CR759778;CR759873;CR788240;CU013522;DB072495;NM_001164239;NM_003587 AAF69614;AAH02789;AAH08825;AAH09392;ABM86832;BAA25908;BAB63323;BAC54930;BAE78615;BAF31265;BAG35195;BAG63940;EAX03312;EAX03313;EAX03314;EAX03315;EAX03316;EAX03317;NP_001157711;NP_003578;O60231 Hs.485060 1739677;2156323;2189391;2191681;5491591 D6S1533E;MARC_23735-23736:1032274434:1;MARC_3797-3798:991937626:7;MARC_4697-4698:996679616:1;STS-N98554 DBP2;DDX16;PRO2014;PRP8;PRPF2;Prp2 ATP-dependent RNA helicase #3;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16;DEAD/H box 16;DEAH-box protein 16;OTTHUMP00000029071;RNA helicase;putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 APPROVED protein-coding ENSG00000204560 HGNC:2739 04555 603405 REVIEWED 1344855 DHRSX dehydrogenase/reductase (SDR family) X-linked ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate X X;Y X;Y p22.33; Yp11.2 6417033 6699196 - 2087547 2370836 - 2219506 2500974 - 1580863;6480464 11731500;12477932;12975309;15489334;16341674;18029348;19027726;21832049;21988832;23275563 207063 C9JB06;C9JRH1;H7C5T6;H7C613;Q8N5I4 ABBA01038574;ABBA01038575;ABBA01038576;ABBA01038577;ABBA01038578;ABBA01038579;ABBA01038580;ABBA01038581;ABBA01038582;ABBA01038583;ABBA01038584;ABBA01038585;ABBA01038586;ABBA01038587;ABBA01038588;ABBA01038589;ABBA01038590;ABBA01038591;ABBA01038592;ABBA01038593;ABBA01038594;ABBA01038595;ABBA01038596;ABBA01038597;AC079176;AJ293620;AL137300;AMYH02038705;AMYH02038706;AMYH02038707;AMYH02038708;AMYH02038709;AMYH02038710;AY358849;BC009269;BC019696;BC032340;BG703185;BM794858;BX119919;BX649443;CH471074;CR381696;CR856018;NM_145177 AAH19696;AAH32340;AAQ89208;ABM82539;ABM85731;CAB70685;CAC82170;EAW98693;NP_660160;Q8N5I4 Hs.131452 1676416;1678659;1679842;1702108;1702268;1702570;1702890;1702928;1731110;1754779;1760453;1787442;1787446;1787458;1853341;2122109;2127327;2172178;2188063;2188065;2188067;2188071;2188073;2188075;2188079;2188081;2188085;5017881;7187872 D10S306;DXS7290;DXYS102;DXYS104;DXYS147;DXYS148;DXYS92;G66037;G66038;G66039;G66041;G66042;G66043;G66045;G66046;G66048;RH38668;RH38669;RH64920;RH65160;RH76391;SHGC-143014;SHGC-146313;SHGC-149962;SHGC-155454;SHGC-58223;UniSTS:99122;ZBED1 CXorf11;DHRS5X;DHRS5Y;DHRSXY;DHRSY;SDR46C1;SDR7C6 OTTHUMP00000022838;OTTHUMP00000070385;dehydrogenase/reductase (SDR family) X chromosome;dehydrogenase/reductase (SDR family) Y-linked;dehydrogenase/reductase SDR family member on chromosome X;short chain dehydrogenase/reductase family 46C, member 1;short chain dehydrogenase/reductase family 7C, member 6 protein-coding ENSG00000169084 HGNC:18399 16803 VALIDATED 1323353 DHX32 DEAH (Asp-Glu-Ala-His) box polypeptide 32 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008] 10 10 10 q26.2 121300345 121345320 - 127524909 127569884 - 125836340 125881315 - 6480464 11313963;12163057;12477932;12527204;14702039;16414036;16959245;17174952;17352256;19161603;21139048;21890473;21906983;21963094;23000965 55760 Q7L7V1;X6R717;X6RHK1 ABBA01034170;ABBA01034171;ABBA01034172;ABBA01034173;AF427340;AF427341;AK001556;AK001751;AK024869;AK315430;AL162051;AL360176;AMYH02023997;AMYH02023998;AY064247;AY064250;BC002473;BC037925;BC068471;CH471066;NM_018180 AAH02473;AAH37925;AAH68471;AAL26550;AAL26551;AAL55437;AAL55441;ABM83608;ABM86828;BAA91754;BAA91882;BAB15029;BAG37818;CAB82394;EAW49216;EAW49217;NP_060650;Q7L7V1 Hs.370292 1656255;1683211;1736142;1789090;2145466;2161201;2172859;2184295;2186394;5491958;7185551 A004G05;D10S1398E;DHX32;G65680;RH44594;RH98320;SGC34496;SHGC-33832;STS-AA036771;WI-11581 DDX32;DHLP1;FLJ10694;FLJ10889 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32;DEAD/H box 32;DEAD/H helicase-like protein 1;DEAD/H helicase-like protein-1;DEAH box protein 32;OTTHUMP00000020717;OTTHUMP00000020718;huDDX32;putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 APPROVED protein-coding ENSG00000089876 HGNC:16717 06411 607960 REVIEWED 732149 DHRS4 dehydrogenase/reductase (SDR family) member 4 ENCODES a protein that exhibits 3-keto sterol reductase activity; alcohol dehydrogenase [NAD(P)+] activity; carbonyl reductase (NADPH) activity; INVOLVED IN alcohol metabolic process; cellular ketone metabolic process; oxidation-reduction process; PARTICIPATES IN retinol metabolic pathway; FOUND IN extracellular vesicular exosome; intracellular membrane-bounded organelle; nuclear membrane; INTERACTS WITH atrazine; copper(2+) sulfate; elemental selenium 14 14 14 q11.2 4285601 4303126 + 24422944 24438488 + 23953735 23969279 + 70713;1580863;6480464;6907045 10333503 12107413;12477932;12975309;14702039;15342556;15473316;15489334;17230527;17461779;18029348;18571493;18754758;19027726;19056333;19442656;20178365;20525226;20877624;21525035;22002062;22891334;23000965;23036705;23128527 10901 F5GWZ1;H0YNP7;Q9BTZ2 AA293161;AA639837;AB045131;ABBA01061328;AF044127;AF064256;AK001870;AK301201;AK308436;AK314448;AL136419;AMYH02028876;AY071856;AY358638;AY616182;BC003019;BP366505;BQ030242;BU529016;CA438339;CD674505;DQ325464;DQ338571;DQ344810;NM_001282987;NM_001282988;NM_001282989;NM_001282990;NM_001282991;NM_021004;XM_006720005;XM_006720006 AAD02292;AAH03019;AAL61824;AAQ13444;AAQ89001;AAT70757;ABC61320;ABC61321;ABD75823;BAA91953;BAB18775;BAG37057;BAH13431;NP_001269916;NP_001269917;NP_001269918;NP_001269919;NP_001269920;NP_066284;Q9BTZ2;XP_006720068;XP_006720069 Hs.528385;Hs.743442 2129672;2134695;2181368;2217256;5023323;5111563 A007G16;DHRS4L2_3647;G31120;RH44509;SHGC-64141;T15928 CR;DHRS4L2;FLJ11008;NRDR;PHCR;PSCD;SCAD-SRL;SDR-SRL;SDR25C1;SDR25C2;humNRDR NADP-dependent retinol dehydrogenase;NADPH-dependent carbonyl reductase/NADP-retinol dehydrogenase;NADPH-dependent retinol dehydrogenase/reductase;OTTHUMP00000164690;carbonyl reductase;dehydrogenase/reductase (SDR family) member 4 like 2A;dehydrogenase/reductase SDR family member 4;peroxisomal short-chain alcohol dehydrogenase;short chain dehydrogenase/reductase family 25C, member 1;short chain dehydrogenase/reductase family 25C, member 2;short-chain dehydrogenase/reductase family member 4 protein-coding ENSG00000157326 HGNC:16985 07484 611596 VALIDATED 1317573 DHRS7 dehydrogenase/reductase (SDR family) member 7 Short-chain dehydrogenases/reductases (SDRs), such as DHRS7, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009] 14 14 14 q23.1 40661330 40682046 - 60611496 60633034 - 60144774 60166305 - 1580863;6480464 10800688;10810093;12477932;12508121;12975309;15489334;19027726;19946888;21139048;21890473;21906983;21988832;22036096;22053931;23000965;24246760;24316191 51635 G3V5J0;H0YJ66;H0YJE4;H0YJR8;Q9Y394 ABBA01018278;AF126782;AF151844;AK313285;AL117420;AL163853;AMYH02029292;AW161450;AY359031;BC000637;BC007337;CH471061;NM_016029;XM_005267757 AAD34081;AAF06941;AAH00637;AAH07337;AAQ89390;BAG36093;CAH56402;EAW80769;EAW80770;NP_057113;Q9Y394;XP_005267814 Hs.59719 1693568;2164822;2174392 A002Q08;G36315;SHGC-58476 CGI-86;SDR34C1;retDSR4;retSDR4 2310016E22Rik;OTTHUMP00000179038;OTTHUMP00000245172;OTTHUMP00000246874;dehydrogenase/reductase SDR family member 7;retinal short-chain dehydrogenase/reductase 4;short chain dehydrogenase/reductase family 34C, member 1 APPROVED protein-coding ENSG00000100612 HGNC:21524 16802 612833 VALIDATED 1317663 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013] 10 10 10 p14 12040496 12094736 + 12110916 12165227 + 12068917 12123228 + 737633;1580863;6480464;8699517;8554872;7240710 12477932 10997877;16385451;16712791;18004749;20800603;20877624;23141293;23141294;24076469;24654937;8889549 55526 C9JWN1;H7C149;H7C1J3;Q96HY7 AA009773;AA393480;ABBA01034672;ABBA01034673;ABBA01034674;ABBA01034675;AC073160;AI823832;AK309810;AL359587;AMYH02022139;AW083293;BC002477;BC007955;BG469693;BI333272;BQ420710;BU187564;BU855972;BU927608;CB134342;CF593518;CH471072;CR749726;HY039281;NG_033248;NM_018706;R72130 AAH02477;AAH07955;CAH18489;EAW86327;NP_061176;Q96HY7 Hs.104980;Hs.568075 1654332;1680074;2130288;5015404;5015619;5015961;5016478;5017170;5019070;5020881;5020946;5024413;5037552 AFMa204we1;D11S3114;D15S1477;D8S2279;G44334;GDB:434012;L17705;L17709;L17877;L17971;L29953;RH45422;RH94270 CMT2Q;DKFZp762M115;KIAA1630;MGC3090 AMOXAD;OTTHUMP00000019087;dehydrogenase E1 and transketolase domain-containing protein 1;probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial protein-coding ENSG00000181192 HGNC:23537 09917 204750;614025;614984;615025 REVIEWED 1322480 DHX35 DEAH (Asp-Glu-Ala-His) box polypeptide 35 DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010] 20 20 20 q11.22-q12 34301654 34379038 + 37590981 37668366 + 38962338 39039723 + 1580863;6480464;8554872 11780052;11991638;12477932;12522690;14702039;16344560;20360068;20379614;21460395;21546767;21906983;21963094;21987572;22505724;23535732;24816145 60625 F2Z2Z2;Q5THQ7;Q5THQ9;Q5THR1;Q9H5Z1 ABBA01052535;AK025541;AK026412;AK056710;AK296506;AK296793;AK303396;AK307863;AL023803;AMYH02037066;AW015983;BC033453;BC059369;BC132669;BC143941;BG258573;CH471077;DA725122;NM_001190809;NM_021931;NR_033905;XM_006723848;XR_430306;XR_430307;XR_430308 AAI32670;ADR83234;BAB15166;BAB15476;BAG59138;BAG59370;BAG64452;EAW76005;EAW76006;EAW76007;NP_001177738;NP_068750;Q9H5Z1;XP_006723911 Hs.444520 1660459;1673170;1771295;2115600;2153285;2183921;5023493;5037552 D20S808;D8S2279;GDB:314027;RH10472;SGC44336;SHGC-36528;SHGC-44336;Z94512 C20orf15;DDX35;FLJ22759;KAIA0875 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35;DEAH box protein 35;DEAH-box protein 35;OTTHUMP00000030982;OTTHUMP00000030983;OTTHUMP00000030984;probable ATP-dependent RNA helicase DHX35 APPROVED protein-coding ENSG00000101452 HGNC:15861 13145 REVIEWED 1316314 DHX33 DEAH (Asp-Glu-Ala-His) box polypeptide 33 This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 17 17 17 p13.2 5361948 5388553 - 5344232 5372380 - 5440912 5469060 - 1580863;6480464 12477932;14702039;15489334;15635413;18187620;19322201;19423540;19615732;20406964;20438785;20811636;21906983;21930779;21963094;23401854;23537643;23602568;23871209;24457600;25036637 56919 B4DIS6;I3L0M5;I3L1L6;Q05BE5;Q9H6R0 ABBA01054814;ABBA01054815;AC004148;AK025625;AK026944;AK295074;AK295760;AK314580;AL359945;AMYH02032859;BC030017;BC042040;BC050409;BQ775963;CH471108;CR936655;NM_001199699;NM_020162;XR_429820 AAH30017;AAH50409;BAB15193;BAB15596;BAG58120;BAG58588;CAB95775;CAI56793;EAW90331;EAW90332;EAW90333;EAW90334;NP_001186628;NP_064547;Q9H6R0 Hs.250456 1675515;2148420;2173909;5015619;5022450 D10S275;D11S3114;RH36080;RH80463;STS-R63801 DDX33;DKFZp762F2011;FLJ21972 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33;DEAH box protein 33;OTTHUMP00000128205;putative ATP-dependent RNA helicase DHX33 APPROVED protein-coding ENSG00000005100 HGNC:16718 13143 614405 REVIEWED 1317633 DHX15 DEAH (Asp-Glu-Ala-His) box helicase 15 The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008] 4 4 4 p15.3 24978492 25035556 - 24529087 24586184 - 24527464 24584561 - 1580863;6480464;6907045 12234937;12458796;12477932;14702039;15146077;15324660;15489334;16055720;16196087;17314511;17332742;17361185;17620599;17643375;17803295;18029348;18562274;18781797;18854154;19103666;19454010;19596686;19738201;19805454;19850743;20360068;20508642;21081666;21139048;21145461;21182205;21252943;21319273;21853274;21890473;21900206;21906983;21907836;21963094;21987572;22178446;22268729;22365833;22446626;22505724;22569250;22586326;22623428;22863883;22939629;22952844;23000965;23022380;23049088;23084401;23125841;23314748;23402259;23443559;23463506;23602568;24250222;24332808;24383474;24457600;24550385;24654937;24816145;24823796;25027693;25036637;7935475;9388478;9747670 1665 O43143 AA771922;AB001636;ABBA01032683;ABBA01032684;AC115110;AF279891;AK054614;AK055898;AK056726;AK303506;AMYH02008899;AMYH02008900;AMYH02008901;BC035974;BC047577;BU158645;CH471069;NM_001358 AAF90182;AAH35974;BAA23987;BAG64538;EAW92814;EAW92815;EAW92816;EAW92817;EAW92818;EAW92819;EAW92820;EAW92821;NP_001349;O43143 Hs.696074 1740641;2108747;5015861;5022578;5022668;7185938 D10S16;D1S1423;D20S992;DHX15;DHX15_8295 DBP1;DDX15;HRH2;PRP43;PRPF43;PrPp43p ATP-dependent RNA helicase #46;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15;DEAD/H box-15;DEAH (Asp-Glu-Ala-His) box polypeptide 15;DEAH box protein 15;OTTHUMP00000217985;RNA helicase 2;putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15 APPROVED protein-coding ENSG00000109606 HGNC:2738 04553 603403 REVIEWED 1605422 DHX34 DEAH (Asp-Glu-Ala-His) box polypeptide 34 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 44656435 44689848 + 47852538 47885961 + 47349281 47382704 + 6480464 10708517;10737800;12477932;15146197;16169070;16344560;19946888;21139048;21900206;21906983;21963094;22939629;23828042;24250222;8590280;8889548 9704 H7C504;Q14147 AA454494;ABBA01041029;ABBA01041030;AC008754;AC073548;AK123046;AK297692;AK304710;AMYH02036259;AMYH02036260;AW886612;BC035243;BE397677;BE646419;BE677798;BF894697;BI826597;BM543601;BQ643547;BQ708034;BU732557;BU858266;CF125648;CH471126;CN307402;D50924;DA048179;DR762320;NM_014681;XM_005259443;XR_243974 AAI72389;BAA09483;BAG60050;BAG65475;EAW57473;EAW57474;EAW57475;EAW57476;EAW57477;NP_055496;Q14147;XP_005259500 Hs.151706 1688740;1770155;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;L18426;RH25357;RH68396 DDX34;HRH1;KIAA0134 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34;DEAH box protein 34;OTTHUMP00000216383;probable ATP-dependent RNA helicase DHX34;probable ATP-dependent helicase DHX34 APPROVED protein-coding ENSG00000134815 HGNC:16719 13144 615475 REVIEWED 1318664 DHX29 DEAH (Asp-Glu-Ala-His) box polypeptide 29 ENCODES a protein that exhibits poly(A) RNA binding; ribosomal small subunit binding; INVOLVED IN ATP catabolic process (inferred); translational initiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN eukaryotic 43S preinitiation complex; INTERACTS WITH ammonium hexachloroplatinate; hexamethylene diisocyanate; quercetin 5 5 5 q11.2 51504864 51556336 - 54552073 54603521 - 55256245 55307693 - 1580863;6480464;8554872 12477932;15302935;15489334;16169070;16964243;19109895;20018725;20877624;21139048;21145461;21890473;21906983;22505724;22939629;23000965;23047696;24816145;24821782;8619474;9110174 54505 H0Y8L1;Q7Z478 ABBA01015739;AC020728;AC026704;AF070639;AK025145;AK308332;AL079292;AL834496;AMYH02011310;AMYH02011311;AY036974;BC035988;BC056219;BX648101;BX648269;BX648688;BX649135;CH471123;NM_019030;XM_005248544;XM_006714653 AAC25394;AAH56219;AAK64516;CAB45191;CAD39154;CAH56153;CAH56172;EAW54915;EAW54916;EAW54917;EAW54918;NP_061903;Q7Z478;XP_005248601;XP_006714716 Hs.593268 1686280;1855521;2174714 RH81061;WI-14214;WI-17946 DDX29;FLJ21492 ATP-dependent RNA helicase DHX29;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29;DEAH box protein 29;OTTHUMP00000221887;nucleic acid helicase DDXx protein-coding ENSG00000067248 HGNC:15815 10882 612720 VALIDATED 1318732 DHX36 DEAH (Asp-Glu-Ala-His) box polypeptide 36 This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 3 q25.2 152414134 152462946 - 153993452 154042286 - 154275668 154324497 - 1580863;6480464;8554872 10819331;12198572;12477932;12812084;14731398;15144186;15489334;16150737;16482509;17353931;17461779;17932509;18029348;18279852;18781797;18842585;18854321;20020773;20472641;20696886;21139048;21145461;21149580;21252943;21858080;21890473;21906983;21963094;22174317;22238380;22586326;22939629;23151878;23825951;24151078;24163370;24332808;24337577;24457600;24550385;24778252;24816145;25027693 170506 E7EWK3;H7C514;H7C5F5;Q9H2U1 AB040921;ABBA01058870;ABBA01058871;AC018452;AC134026;AF217190;AJ577133;AJ577134;AK303720;AK314435;AMYH02007939;AMYH02007940;AMYH02007941;AMYH02007942;BC036035;CH471052;NM_001114397;NM_020865 AAG36783;AAH36035;ABM81936;BAA96012;BAG37047;BAH14031;CAE11802;CAE11803;EAW78761;EAW78762;EAW78763;NP_001107869;NP_065916;Q9H2U1 Hs.446270 1653168;1671687;1696100;1735336;2132651;2166817 D3S2833E;D3S2897E;D3S2960E;SHGC-35942;SHGC-77472;SHGC-79130 DDX36;G4R1;KIAA1488;MLEL1;RHAU ATP-dependent RNA helicase DHX36;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36;DEAH box protein 36;G4 resolvase-1;G4-resolvase 1;MLE-like protein 1;OTTHUMP00000214101;OTTHUMP00000214102;OTTHUMP00000214103;OTTHUMP00000214104;RNA helicase associated with AU-rich element ARE;probable ATP-dependent RNA helicase DHX36 APPROVED protein-coding ENSG00000174953 HGNC:14410 09918 612767 VALIDATED 1321196 DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008] 16 16 16 q22 56441736 56460927 + 72127615 72146811 + 72093716 72112912 + 1580863;6480464;6907045;8554872 10421373;10493829;11991638;12226669;12417987;12477932;15009096;15489334;17353931;1825134;18715871;19471022;19615732;19946888;20360068;20686565;21044950;21139048;21145461;21693764;22113938;22365833;22505724;22586326;22797925;22863883;22916037;22939629;24337577;24816145;25027693;25036637;8889548;8889549;9039502;9342318;9524131;9769096 9785 H3BMS7;H3BQT9;H3BV01;J3KRT1;J3KSA8;J3KTG2;Q92620 AA126451;ABBA01016797;AC004682;AC009087;AF038391;AK291634;AK293776;AK297269;AK297791;AK301074;AK309391;AK311169;AMYH02032334;BC004235;BC008340;BG719187;BM473438;BU733805;CH471166;D86977;NG_034207;NM_014003;XM_005256269;XR_429741 AAC27431;AAC39729;AAH04235;AAH08340;ABM82812;ABM85998;BAA13213;BAF84323;BAG57191;BAG59742;BAG60131;BAG62680;EAW59180;EAW59181;EAW59182;EAW59183;EAW59184;EAW59185;EAW59186;EAW59187;EAW59188;EAW59189;EAW59190;NP_054722;Q92620;XP_005256326 Hs.151218 1680196;1687934;1697584;1725743;1738795;1777624;1855662;2108749;2159828;2179214 D16S2867;DHX38_8991;G62063;RH102302;RH44725;RH45493;RH80727;SHGC-32168;SHGC-60761;SHGC-61046 DDX38;KIAA0224;PRP16;PRPF16 ATP-dependent RNA helicase DHX38;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38;DEAH box protein 38;OTTHUMP00000174930;PRP16 homolog of S.cerevisiae;pre-mRNA splicing factor ATP-dependent RNA helicase PRP16;pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 APPROVED protein-coding ENSG00000140829 HGNC:17211 05720 605584 REVIEWED 1318916 DHX30 DEAH (Asp-Glu-Ala-His) box helicase 30 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013] 3 3 3 p21.31 47794449 47841545 + 47844399 47891686 + 47802909 47850196 + 6480464 10048485;12477932;14702039;15231747;15231748;16055720;16522924;16825194;17000644;17255935;17932509;18022663;18029348;18063578;19454010;19738201;20020773;20186120;20360068;20379614;21139048;21145461;21182205;21204022;21278163;21890473;21903422;21907836;21963094;21987572;22446626;22586326;22939629;22952844;23000965;23098562;23125841;23455922;23473034;23825951;24390425;24457600;24550385;24654937;24816145;25027693 22907 F6R0H4;H7BXY3;Q7L2E3 AB020697;ABBA01024669;ABBA01024670;ABBA01024671;ABBA01024672;ABBA01024673;AC026318;AC139667;AK002076;AK096791;AK291266;AMYH02006703;AMYH02006704;AMYH02006705;AMYH02006706;BC014237;BC015029;BC020126;BC028405;BC038417;BC047335;BC063510;CD368247;CH471055;NM_014966;NM_138615;NR_075079;XM_006713032;XM_006713033 AAH14237;AAH15029;AAH20126;AAH38417;ABM85195;BAA74913;BAA92071;BAF83955;EAW64833;EAW64834;EAW64835;EAW64836;NP_055781;NP_619520;Q7L2E3;XP_006713095;XP_006713096 Hs.517948 1684240;1684242;1686772;1725475;1849337;2143627;5037552;5094032 A010B06;D8S2279;G33066;RH119134;RH69910;RH80618;RH99010;SHGC-36309 DDX30;FLJ11214;KIAA0890 ATP-dependent RNA helicase DHX30;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30;DEAH (Asp-Glu-Ala-His) box polypeptide 30;DEAH box protein 30;OTTHUMP00000164802;OTTHUMP00000210760;OTTHUMP00000210761;RETCOR;putative ATP-dependent RNA helicase DHX30;retina co-repressor APPROVED protein-coding ENSG00000132153 HGNC:16716 13142 REVIEWED 1350869 DHX40 DEAH (Asp-Glu-Ala-His) box polypeptide 40 This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009] 17 17 17 q23.1 54104928 54149420 + 57642886 57685713 + 59565525 59608352 + 6480464 12477932;12522690;14702039;15489334;19615732;20811636;21139048;21890473;21906983;21963094;21987572;22939629;25036637;8125298;8707840 79665 B4DR88;F5H625;J3KS08;J3KSW6;J3KSX9;J3KTK0;Q8IX18 ABBA01003167;ABBA01003168;ABBA01041386;ABBA01041387;AC004167;AC091271;AF260270;AF319521;AF461690;AK025713;AK091334;AK095681;AK123683;AK225268;AK225344;AK226048;AK299151;AL832510;AMYH02033717;AMYH02033718;AMYH02033719;BC024187;CH471109;NM_001166301;NM_024612;XM_003846599;XM_006722083 AAF70326;AAH24187;AAK32122;AAN77932;ABM81835;ABM84986;BAB15226;BAG52339;BAG53107;BAG61200;CAI46197;EAW94402;EAW94403;EAW94404;EAW94405;EAW94406;NP_001159773;NP_078888;Q8IX18;XP_003846647;XP_006722146 Hs.29403 1693440;2149804;2152515;2160463 A008I31;G42383;RH16508;RH44652 ARG147;DDX40;FLJ22060;FLJ34015;PAD DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase);DEAH box protein 40;probable ATP-dependent RNA helicase DHX40 APPROVED protein-coding ENSG00000108406 HGNC:18018 06346 607570 REVIEWED 1343511 DHX9P1 DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene 1 13 13 13 q21 58456866 58461093 + 77558877 77563104 + 76984742 76988969 + 9325059 1661 ABBA01021659;AC001226;AMYH02028311;NG_002657 1661686;2165824;2174273 D13S1668;RH48886;SHGC-57619 DDX9P;DHX9P APPROVED pseudo HGNC:2751 INFERRED 1348282 DIANPH diabetic nephropathy 7240710 23771 HGNC:2875 1321188 DHX57 DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN ATP catabolic process (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; amiodarone; copper(2+) sulfate 2 2 2 p22.1 38865894 38943735 - 39024871 39103021 - 38797729 38875879 - 6480464;8554872 12477932;14702039;15489334;15815621;17081983;17353931;20020773;21139048;21145461;22586326;22990118;23251661;24778252;24816145;8619474;9110174 90957 F8WAZ3;H7BZ23;H7C109;Q6P158;Q8N4U2 AA431324;AB209249;ABBA01075019;ABBA01075020;ABBA01075021;ABBA01075022;AC018693;AF070590;AF283512;AI203420;AK057423;AK296739;AK307514;AMYH02003633;BC012454;BC033636;BC039270;BC053623;BC060778;BC065278;BC131534;BC153875;BQ719095;BU183594;CH471053;KF510812;NM_198963 AAH33636;AAH53623;AAH60778;AAH65278;AAI31535;AAM73547;AAY24256;BAB71479;BAD92486;BAG59324;EAX00358;NP_945314;Q6P158 Hs.468226 1653379;1653381;1656483;1658210;1681937;1702860;1707682;1720799;1728397;1776573;1779932;2110365;2129596;2179258;5015861;5015961;5037552;7185938 D10S16;D15S1477;D2S2581;D8S2279;DHX57__4734;G59375;G63481;HSC2HD052;RH12126;RH65495;RH70286;RH78195;RH93622;SHGC-154181;SHGC-82014;UniSTS:99620;WI-18523 DDX57;FLJ32861 DEAH box protein 57;DEAH-box RNA/DNA helicase AAM73547;OTTHUMP00000128298;OTTHUMP00000204072;putative ATP-dependent RNA helicase DHX57 protein-coding ENSG00000163214 HGNC:20086 09919 PROVISIONAL 1603964 DHX58 DEXH (Asp-Glu-X-His) box polypeptide 58 ENCODES a protein that exhibits double-stranded RNA binding; single-stranded RNA binding; zinc ion binding; INVOLVED IN negative regulation of innate immune response; negative regulation of MDA-5 signaling pathway; negative regulation of RIG-I signaling pathway; PARTICIPATES IN Retinoic acid-inducible gene (RIG) I-like receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 17beta-estradiol; fonofos; parathion 17 17 17 q21.2 36908460 36919789 - 40253422 40264751 - 42101404 42112733 - 6480464;6907045;8554872 11735219;12477932;14702039;16116171;16189514;17020950;17190814;18029348;18411269;18976975;19278996;19403670;20331378;21285412;21525357;21832049;21903422;22185736;22301134;22797925;22837208;23184951;23671710;24493797;24829334;8125298;8889548 79132 C9JE76;C9JG98;K7EMZ5;K7EPP0;Q96C10 ABBA01006436;AC105024;AK021416;AK097669;AK225549;AK296840;AK300900;AMYH02033425;BC014949;BM723672;CH471152;NM_024119;XR_243681 AAH14949;ADZ15332;BAB13818;BAG53507;BAG62538;BAH12441;EAW60796;EAW60797;EAW60798;EAW60799;EAW60800;NP_077024;Q96C10 Hs.55918 1650796;1733486;1777450;2106537;2109339;2180493;5019631 A005Q17;D17S1251;G32267;GCN5L2_3982;LGP2__6393;SHGC-31964;SHGC-57271 D11LGP2;D11lgp2e;LGP2;RLR;RLR-3 OTTHUMP00000164729;RIG-I-like receptor 3;RIG-I-like receptor LGP2;RNA helicase LGP2;ortholog of mouse D11lgp2;probable ATP-dependent RNA helicase DHX58;probable ATP-dependent helicase LGP2;protein D11Lgp2 homolog protein-coding ENSG00000108771 HGNC:29517 13115 608588 VALIDATED 8694268 DIAPH2-AS1 DIAPH2 antisense RNA 1 X q21.33 96743930 96784244 - 21697133;7736777;8133036 10824 Q14236 AB593036;AB593037;AL391821;L22650;NR_125391;XM_926826 AAA20152;Q14236;XP_931919 Hs.654372;Hs.730804;Hs.740235 1702170;1747159;1747161;1747163;1747165;1747167;1747169;1747179 DXS1458;G65253;G65254;G65258;G65261;G65269;G65270;G65272 EPAG ncrna HGNC:16972 300347 VALIDATED 1321771 DIAPH1 diaphanous-related formin 1 This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q31 136971324 137075350 - 140894588 140998622 - 141515021 141619055 - 1601058;1580863;6480464;6484113;6907045;7240710;8699517;8554872 9360932 10814512;11171383;11590143;11992112;12065429;12324464;12477932;12665801;12773565;12847276;1350680;14592989;14702039;15085137;15096506;15123714;15231748;15864301;16055720;16109481;16344560;16887337;17182868;17301291;17370265;17940061;18194650;18218625;18922799;18955552;19041431;19102128;19158278;19160018;19240061;19470376;19738201;19913427;20030946;20071339;20223827;20301607;20591975;21139048;21680709;21706016;21890473;21906983;21963094;22053931;22179776;22190034;22194616;22266902;22454521;22505724;22863883;22939629;22944692;23325789;23862649;24105619;24126053;24317603;24550385;24639526;24781755;24816145;24891322;7737110;8619474;9110174 1729 B4E2I7;E5RJ79;E7EMV0;E7ERW8;E9PEZ3;E9PHQ0;H7C2W8;H9KV28;O60610;Q6URC4 AB209482;ABBA01026407;ABBA01026408;ABBA01026409;ABBA01026410;AC008781;AF051782;AK023345;AK057994;AK094264;AK301195;AK304291;AK307822;AL050086;AMYH02012346;AMYH02012347;AY007129;AY360322;AY363395;BC007411;BC117257;BC143413;BC143414;BQ945734;BT007318;CH471062;DA593734;DQ067452;DQ067453;KC877126;KC877129;KC877137;NG_011594;NM_001079812;NM_005219;XM_005268384 AAC05373;AAH07411;AAI17258;AAI43414;AAP35982;AAQ63049;AAQ64023;AAZ23039;AAZ23040;BAB14533;BAD92719;BAG62775;BAG65149;EAW61919;EAW61920;NP_001073280;NP_005210;O60610;XP_005268441 Hs.529451 1687612;1708234;1791558;1791566;1856154;2143321;2152153;2161597;2175387;2218486;5014709 D5S1539;D5S2318;DIAPH1__4737;PMC115182P3;PMC115182P7;RH15897;RH66450;RH78579;RH92360;SHGC-79378;WI-17153 DFNA1;DIA1;DRF1;FLJ25265;LFHL1;hDIA1 OTTHUMP00000195047;OTTHUMP00000195048;OTTHUMP00000195049;OTTHUMP00000224777;diaphanous homolog 1;diaphanous-related formin-1 APPROVED protein-coding ENSG00000131504 HGNC:2876 03670 124900;602121 REVIEWED 1321795 DHX8 DEAH (Asp-Glu-Ala-His) box polypeptide 8 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is highly homologous to yeast Prp22. This protein facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38271030 38311335 + 41561330 41604185 + 43483962 43526815 + 1580863;6480464;6907045;8554872 11991638;12477932;15635413;16094384;16820410;18029348;18729074;19615732;19724143;21139048;21145461;22365833;22404213;22586326;22939629;23022380;23096351;23602568;23771891;23824909;24778252;24816145;25036637;7935475;8608946 1659 F5H658;K7EJH9;K7END7;K7EQH7;Q14562;S4R3S0 ABBA01028409;ABBA01028410;ABBA01028411;AC068675;AC087650;AK291664;AK294046;AK303319;AMYH02033460;AMYH02033461;BC020697;BC038223;BC044586;BC047327;CH471178;D50487;NM_004941;XM_005257113;XM_005257114 AAH20697;AAH44586;AAH47327;BAA09078;BAF84353;BAG57398;BAH13940;EAW51676;EAW51677;EAW51678;EAW51679;EAW51680;NP_004932;Q14562;XP_005257170;XP_005257171 Hs.463105 1681253;1733462;1765267;2109237;2146317;2157327;2166273 D17S1200;D17S1234;DHX8__4735;L18196;NIB1920;RH94131;SHGC-148771 DDX8;HRH1;PRP22;PRPF22 ATP-dependent RNA helicase DHX8;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase);DEAH box protein 8;DEAH-box protein 8;RNA helicase HRH1 APPROVED protein-coding ENSG00000067596 HGNC:2749 02672 600396 REVIEWED 1350370 DIAPH3 diaphanous-related formin 3 This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 13 13 13 q21.2 41197875 41696297 - 60239717 60738119 - 59665583 60163985 - 1580863;6480464;7240710;8699517;8554872 11329013;11509578;12477932;14702039;14767582;15057823;15085137;15231748;15489334;15520414;15976449;17198702;17370265;17398099;17855386;18044991;18516090;18755006;19343720;19457867;19471022;20467438;20624953;21119010;21139048;21397845;21963094;22184005;22593025;22797925;23383273;23580645;24550385;24816145;563699 81624 B4DPV3;Q9NSV4 AB244756;AB244757;AB244758;ABBA01036994;ABBA01050206;ABBA01050207;ABBA01050208;ABBA01050209;AK092024;AK298509;AK307652;AK316474;AL137718;AL354829;AL356502;AL359266;AL390878;AL596282;AMYH02028130;AMYH02028131;AMYH02028132;AMYH02028133;AMYH02028134;AMYH02028135;AY750055;AY818645;BC034952;BC048963;BC068504;BF979672;BG203073;BX649186;CA310418;CH471124;KF455787;NG_032693;NM_001042517;NM_001258366;NM_001258367;NM_001258368;NM_001258369;NM_001258370;NM_030932;XM_006719876 AAH34952;AAH48963;AAH68504;AAW73254;AAW78862;BAC03793;BAE96350;BAE96351;BAE96352;BAG60715;BAH14845;CAB70890;CAE46204;EAW52069;EAW52070;EAW52071;EAW52072;EAW52073;EAW52074;NP_001035982;NP_001245295;NP_001245296;NP_001245297;NP_001245298;NP_001245299;NP_112194;Q9NSV4;XP_006719939 Hs.283127 1335643;1671664;1675405;1678873;1690208;1690792;1699800;1720751;1732727;1749037;1749379;1749599;1751597;1782974;1789164;2122688 AFM263yd1;D13S176;D13S632;G59349;G65581;RH103507;RH44715;RH92288;RH92956;RH93284;SGC33707;SHGC-105559;SHGC-110672;SHGC-111130;SHGC-111284;SHGC-79449 AN;AUNA1;DKFZp434C0931;DKFZp686A13178;DRF3;Dia2;FLJ34705;NSDAN;diap3;mDia2 OTTHUMP00000018480;OTTHUMP00000180577;OTTHUMP00000180578;OTTHUMP00000180579;OTTHUMP00000180580;auditory neuropathy, autosomal dominant 1;diaphanous homolog 3;diaphanous-related formin-3 APPROVED protein-coding ENSG00000139734 HGNC:15480 10884 609129;614567 REVIEWED 6481150 DIAPH3-AS1 DIAPH3 antisense RNA 1 13 13 60586885 60618491 + 60012718 60044357 + 12477932 100874195 ABBA01050207;ABBA01050208;AI685327;AL390878;AMYH02028133;AW468687;BC032915;BX093461;BX398653;HG505687;HG505688;HG505689;KF455787;NR_046539;NR_051993;NR_051994;NR_109838;NR_109839 Hs.664101 RP11-442F12.2 APPROVED ncrna ENSG00000227528 HGNC:39915 VALIDATED 6481152 DIAPH3-AS2 DIAPH3 antisense RNA 2 13 13 60718832 60727713 + 60144698 60153505 + 8401585 100874196 AA382138;AA431127;ABBA01050208;ABBA01050209;AL356502;AMYH02028134;HG505690;NR_046540 Hs.662188 DIPAH3-AS2;RP11-430I3.2 APPROVED ncrna ENSG00000223815 HGNC:39916 PREDICTED 1318384 DHX9 DEAH (Asp-Glu-Ala-His) box helicase 9 This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010] 1 1 1 q25 155919588 155968267 + 182808439 182857117 + 182839304 182887982 + 1580863;6480464;7421504;8554872 21784126 10207077;10748171;10924507;10925702;10951562;11149922;11254741;11402034;11416126;11687588;11823437;11850402;12163469;12171929;12226669;12243751;12429849;12477932;12592385;12665568;12711669;12777385;12946349;14702039;14704337;14769796;15034300;15084609;15121898;15161933;15302935;15312759;15355351;1537828;15489334;15613478;15723802;15848144;15995249;16055720;16169070;16196087;16210410;16230076;16344560;16375861;16527808;16710414;16740692;16914450;17081983;17251188;17289661;17303075;17332742;17353931;17361185;17498979;17531811;17611602;17643375;17765891;18029348;18053790;18385154;18457437;18519039;18600529;18781797;18782589;18809582;19029303;19135240;19149558;19197335;19229320;19309309;19454010;19738201;19805454;19893574;20007598;20020773;20085233;20360068;20385589;20437153;20510246;20669935;20696886;20802156;21081666;21123178;21139048;21145461;21149631;21182205;21252943;21319273;21358275;21549307;21561811;21679440;21853274;21890473;21900255;21903422;21906983;21907836;21957149;21963094;21987572;22053931;22108332;22118674;22145905;22162396;22171255;22174317;22178446;22190748;22268729;22365833;22446626;22505724;22751105;22797925;22863883;22939629;22952844;23000965;23125841;23151878;23184937;23361462;23398456;23443559;23602568;23658844;23825951;23853588;23862649;24049074;24147044;24223160;24250222;24332808;24457600;24550385;24639526;24654937;24726449;24816145;24984263;25027693;7685763;8344961;8690889;9111062;9162007;9323138;9396813;9480750;9662397;9811865;9892698 1660 B3KU66;Q08211 AA836637;AB451248;AB451372;ABBA01027761;AF086352;AK096582;AK130564;AK226102;AK308165;AL355999;AL662837;AMYH02002276;BC008773;BC014246;BC025245;BC032742;BC058896;BC071950;BC107881;BC137136;BC144494;CH471067;DB002450;DB223823;DB285127;L13848;NG_029930;NM_001357;NR_033302;U03643;Y10658 AAA03571;AAB48855;AAH08773;AAH14246;AAH25245;AAH58896;AAI07882;AAI37137;BAG53328;BAG70062;BAG70186;CAA71668;EAW91137;EAW91138;NP_001348;Q08211 Hs.191518 1649323;1661686;1663640;1691880;1692104;2127330;2162719;2165824;2174273;5091846;5093454;5107743 A009P09;AL033692;AL033994;D13S1668;D1S1703;D1S2238;D1S3440;G32727;RH17975;RH48886;RH69013;SHGC-57619 DDX9;FLJ17406;LKP;NDH2;NDHII;RHA ATP-dependent RNA helicase A;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9;DEAH (Asp-Glu-Ala-His) box polypeptide 9;DEAH box protein 9;OTTHUMP00000033287;RNA helicase A;leukophysin;nuclear DNA helicase II APPROVED protein-coding ENSG00000135829 HGNC:2750 04386 603115 REVIEWED 1346222 DIAPH2 diaphanous-related formin 2 The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X X q21.33 96458012 97373277 + 95939650 96855597 + 96684663 97600598 + 1601071;1580863;6480464;7240710;8699517;8554872 9070928 10524757;11129329;11509578;12477932;12577064;14702039;15085137;15772651;16055720;16344560;17081983;18029348;18044991;20467438;20734064;20936779;21139048;21386871;22685410;22933573;23024796;23620398;24037343;24816145;8406446;9497258 1730 A6NML8;C9J6U3;K4DI95;O60879;Q17R91 ABBA01064463;ABBA01064464;ABBA01064465;ABBA01064466;ABBA01064467;ABBA01064468;ABBA01064469;ABBA01064470;ABBA01064471;ABBA01064472;ABBA01064473;ABBA01064474;ABBA01064475;ABBA01064476;ABBA01064477;ABBA01064478;ABBA01064479;ABBA01064480;ABBA01064481;ABBA01064482;ABBA01064483;ABBA01064484;ABBA01064485;ABBA01064486;ABBA01064487;ABBA01064488;ABBA01064489;ABBA01064490;ABBA01064491;ABBA01064492;ABBA01064493;ABBA01064494;ABBA01064495;ABBA01064496;ABBA01064497;ABBA01064498;ABBA01064499;ABBA01064500;ABBA01064501;ABBA01064502;ABBA01064503;ABBA01064504;ABBA01064505;ABBA01064506;ABBA01064507;ABBA01064508;ABBA01064509;ABBA01064510;ABBA01064511;ABBA01064512;ABBA01064513;ABBA01064514;ABBA01064515;ABBA01064516;ABBA01064517;ABBA01064518;ABBA01064519;ABBA01064520;ABBA01064521;ABBA01064522;ABBA01064523;ABBA01064524;ABBA01064525;ABBA01064526;ABBA01064527;ABBA01064528;ABBA01064529;ABBA01064530;ABBA01064531;ABBA01064532;ABBA01064533;ABBA01064534;ABBA01064535;ABBA01064536;ABBA01064537;ABBA01064538;ABBA01064539;ABBA01064540;ABBA01064541;ABBA01064542;ABBA01064543;ABBA01064544;ABBA01064545;ABBA01064546;ABBA01064547;ABBA01064548;ABBA01064549;ABBA01064550;ABBA01064551;ABBA01064552;ABBA01064553;ABBA01064554;ABBA01064555;ABBA01064556;ABBA01064557;ABBA01064558;ABBA01064559;ABBA01064560;ABBA01064561;ABBA01064562;ABBA01064563;ABBA01064564;ABBA01064565;ABBA01064566;ABBA01064567;ABBA01064568;ABBA01064569;ABBA01064570;ABBA01064571;ABBA01064572;ABBA01064573;ABBA01064574;ABBA01064575;ABBA01064576;ABBA01064577;ABBA01064578;ABBA01064579;ABBA01064580;ABBA01064581;ABBA01064582;ABBA01064583;ABBA01064584;AK002029;AK291272;AL031053;AL139399;AL139809;AL161624;AL391821;AL592157;AL606530;AL669876;AMYH02040009;AMYH02040010;AMYH02040011;AMYH02040012;AMYH02040013;AMYH02040014;AMYH02040015;AMYH02040016;AMYH02040017;AMYH02040018;AMYH02040019;AMYH02040020;AMYH02040021;AMYH02040022;AMYH02040023;AMYH02040024;AMYH02040025;AMYH02040026;AMYH02040027;AMYH02040028;AMYH02040029;AMYH02040030;AMYH02040031;AW276516;BC117414;BC143838;BX363708;CH471115;CS185577;DB062196;KF459237;KF459238;KF459240;NG_008433;NM_006729;NM_007309;U69179;Y15908;Y15909 AAI17415;AAI43839;BAF83961;BAG51003;CAA75869;CAA75870;CAJ42758;EAX02791;EAX02792;EAX02793;NP_006720;NP_009293;O60879 Hs.226483 1644414;1667088;1685746;1701798;1702282;1702544;1726187;1726189;1726191;1726193;1726195;1726197;1726199;1726201;1726203;1726205;1726207;1726209;1726211;1726213;1726215;1726217;1726219;1726221;1726223;1726225;1726227;1726229;1726231;1726233;1726235;1747157;1747159;1747161;1747163;1747165;1747167;1747169;1747171;1747173;1747175;1747177;1747179;1750807;1768791;1787248;1856152;2130927;2136761;2144577;2145296;2219150;5021912;5105271;5106116 AL022455;DIAPH2;DXS1496;DXS458;DXS7923;G31506;G63737;G63738;G63739;G63740;G63741;G63742;G63744;G63746;G63747;G63748;G63749;G63750;G63754;G63755;G63756;G63757;G63759;G63760;G63761;G63762;G63766;G63767;G63768;G63769;G63770;G65253;G65254;G65258;G65261;G65262;G65263;G65267;G65269;G65270;G65272;G65273;G65274;G65276;HSU24186__6606;L77838;RH36105;RH36249;RH45223;RH65880;RH70584;SHGC-103641;SHGC-142364;WI-11708;ha2854 DIA;DIA2;DRF2;FLJ11167;POF;POF2;mDia3 OTTHUMP00000024270;OTTHUMP00000024271;diaphanous homolog 2;diaphanous-related formin-2;diaphorase-2 APPROVED protein-coding ENSG00000147202 HGNC:2877 02117 300108;300511 REVIEWED 1315679 DHX37 DEAH (Asp-Glu-Ala-His) box polypeptide 37 This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 125032659 125074871 - 125431370 125473667 - 124946824 124989121 - 6480464;8554872 10819331;12421765;12477932;15489334;17353931;20811636;21963094;22586326;22751105;22939629;23275563;24816145 57647 F5H3Y4;F5H8E1;Q8IY37 AB040950;ABBA01060356;ABBA01060357;ABBA01060358;ABBA01060359;AC093719;AK123968;AMYH02027479;AMYH02027480;BC002575;BC004463;BC009913;BC037964;BC071824;BQ070021;BU633279;CH471054;NM_032656;XM_005253590 AAH02575;AAH37964;AAH71824;BAA96041;EAW98467;EAW98468;EAW98469;NP_116045;Q8IY37;XP_005253647 Hs.107382 1698724;1704688;1720887 G59271;RH102922;SHGC-78997 DDX37;FLJ41974;KIAA1517;MGC2695;MGC4322;MGC46245 DEAD/DEAH box helicase DDX37;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 37;DEAH box protein 37;OTTHUMP00000239022;probable ATP-dependent RNA helicase DHX37 APPROVED protein-coding ENSG00000150990 HGNC:17210 10883 REVIEWED 2292050 DICER1-AS1 DICER1 antisense RNA 1 INTERACTS WITH valproic acid 14 14 14 q32.13 75680142 75702386 + 95624025 95646270 + 95157688 95179933 + 6480464 12477932;19322201 400242 Q6ZSS4 ABBA01030403;ABBA01030404;AK127179;AL356017;AMYH02029792;AMYH02029793;BC040596;BC132912;BI754942;BX642509;BX648898;HG506505;HG506506;NR_015415 BAC86872 Hs.497573;Hs.712518 1680657;5015607;5020423;5022637;5037552;5115198 D11S1053;D11S2442;D11S2766;D11S3014;D8S2279;RH99182 AL356017.3;DICER1-AS;FLJ45244 APPROVED ncrna ENSG00000235706 HGNC:43017 13502 VALIDATED 1344911 DIH1 diaphragmatic hernia 1 7240710 1732 HGNC:2881 142340 735269 DIO1 deiodinase, iodothyronine, type I The protein encoded by this gene is a thiol-requiring propylthiouracil-sensitive oxidoreductase. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It also degrades both hormones by inner ring deiodination (IRD). Alternative splicing results in multiple transcript variants encoding different isoforms. Some, but not all, isoforms contain a selenocysteine (Sec) residue encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Additional transcript variants have been described but are not supported by experimental evidence. [provided by RefSeq, Jul 2008] 1 1 1 p33-p32 52647532 52664449 + 54359860 54376763 + 53894188 53911086 + 1580863;6480464;7240710;8699517 11383912;12153750;12477932;12586771;12847093;1400883;15028279;15483075;15489334;15785240;16131326;16710414;17105838;17274741;18349068;18426912;18492748;18676680;18793344;19064291;19170196;19190113;19534619;19625176;19692168;19730683;20049650;21415143;21563302;21912701;22067325;22207295;22339181;22544951;23408906;23462647;23502783;24878678;7651427;7744884;8033262;8187873;8427198;8473826;8964838;9192862;9249039;9784399 1733 C6ZRC2;D3DQ42;E9PI35;E9PM07;E9PNR3;P49895 ABBA01074729;AK290780;AL031427;AMYH02001043;AW294928;AY560374;AY560375;AY560376;AY560377;AY560378;AY560379;AY560380;AY560381;AY560382;AY560383;BC017955;BC107170;BC107171;CD014030;CH471059;FJ002243;FJ002244;FJ002245;NG_023306;NM_000792;NM_001039715;NM_001039716;NM_213593;S79349 AAB35380;AAH17955;AAI07171;AAI07172;AAT02480;AAT02481;AAT02482;AAT02483;AAT02484;AAT02485;AAT02486;AAT02487;AAT02488;AAT02489;ACM41656;ACM41657;ACM41658;BAF83469;EAX06720;EAX06721;EAX06722;EAX06723;EAX06724;EAX06725;EAX06726;NP_000783;NP_001034804;NP_001034805;NP_998758;P49895 Hs.251415 1678773;2110367;2177003 D1S3255;DIO1_8298;RH80009 5DI;DIOI;MGC130050;MGC130051;TXDI1 OTTHUMP00000010105;OTTHUMP00000010106;OTTHUMP00000232057;OTTHUMP00000232063;OTTHUMP00000232065;OTTHUMP00000232066;iodothyronine deiodinase type 1;thyroxine deiodinase type I (selenoprotein);type 1 DI;type I iodothyronine deiodinase;type-I 5'-deiodinase;type-I 5'deiodinase APPROVED protein-coding ENSG00000211452 HGNC:2883 01002 147892 REVIEWED 1322490 DIDO1 death inducer-obliterator 1 Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 58185696 58245931 - 61509090 61569304 - 62877738 62937952 - 1580863;6480464;8554872 10393935;11780052;12070015;12477932;12624717;14702039;15146197;15203218;15302935;15489334;16127461;16189514;16344560;16964243;17081983;17299043;18298900;19236754;19471022;19851296;20198315;20379614;20453000;20467438;20800603;21139048;21832049;21890473;21988832;22469980;22586326;22711543;22939629;23602568;24163370;24250222;24332808;24457600;24550385;24816145;8889548;9205841 11083 Q9BTC0 AB002331;ABBA01021375;ABBA01021376;ABBA01021377;AF085876;AI291497;AK002127;AL035669;AL117379;AL133063;AMYH02037443;AMYH02037444;AW206895;AY481571;AY481572;BC000770;BC004237;BC012757;BC014489;BC014615;BC137177;BG677268;BG755041;BG771506;BI830580;BQ045451;BX404270;CD637702;CH471077;CK300739;CN348577;CN348578;CN370110;CN370112;DA294135;DA506324;DB460917;NG_029496;NM_001193369;NM_001193370;NM_022105;NM_033081;NM_080796;NM_080797;XM_006723684 AAH00770;AAH04237;AAH14489;AAI37178;AAS49898;AAS49899;ABM83946;ABM87264;BAA20791;BAA92094;CAB61387;EAW75321;EAW75322;EAW75323;EAW75324;EAW75325;EAW75326;NP_001180298;NP_001180299;NP_071388;NP_149072;NP_542986;NP_542987;Q9BTC0;XP_006723747 Hs.517172 1662162;1663302;1677138;1678167;1681127;1682702;1687023;1687425;1687431;1687714;1693688;2114752;5093852 G32962;RH18344;RH25609;RH39018;RH46004;RH67654;RH77850;RH80495;RH92326;SHGC-2352;SHGC-24151;SHGC-57951;SHGC-58609 BYE1;C20orf158;DATF-1;DATF1;DIDO2;DIDO3;DIO-1;DIO1;DKFZp434P1115;FLJ11265;KIAA0333;MGC16140;dJ885L7.8;hDido1 OTTHUMP00000031517;OTTHUMP00000031518;OTTHUMP00000031519;OTTHUMP00000031520;OTTHUMP00000031521;OTTHUMP00000031522;death associated transcription factor 1;death-associated transcription factor 1;death-inducer obliterator 1 APPROVED protein-coding ENSG00000101191 HGNC:2680 10363;12752 604140 REVIEWED 1322043 DIABLO diablo, IAP-binding mitochondrial protein This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 12 12 12 q24.31 122281555 122301434 - 122692209 122712081 - 122207662 122227534 - 6480464;8699517;7240710;8554872 10929711;10929712;10950947;10972280;11140637;11140638;11181995;11242052;11257230;11257231;11285287;11323712;11602612;11604410;11606597;11726499;11801595;11801603;11964312;12118245;12121969;12218061;12364342;12388702;12477932;12511567;12525502;12559088;12571250;12620238;12642862;12660240;12665525;12749848;12766489;12855565;12865429;12975347;14512414;14523016;14560006;14570909;14702039;14960576;15178455;15200957;15242764;15280366;15300255;15485395;15489334;15507451;15537572;15541727;15628841;15650747;15749826;15781261;15843890;16083549;16091752;16196087;16282325;16341674;16344560;16484020;16729033;16732934;16868249;16949641;17045968;17140287;17179183;17223373;17237824;17277885;17291493;17320350;17440818;17521628;17546047;17603079;17630921;17653087;17666167;17724022;17922292;17959540;17967504;17996648;17997990;18029193;18029348;18060880;18091317;18307314;18309324;18401527;18660514;18663754;18822208;18856066;18979398;19148507;19153467;19234489;19322201;19500507;19506082;19615732;19635196;19667203;19875445;19913121;20056675;20061022;20063052;20395960;20537984;20562859;20572591;20596678;20614026;20618440;20628086;20639865;20877624;20957035;20972266;20980180;21055155;21139048;21204765;21242120;21354220;21478115;21676925;21722859;21744997;21869827;21890473;21900206;21903422;21906983;21987572;21988832;22028622;22161156;22218530;22320973;22333553;22482401;22505724;22528226;22534537;22549017;22590594;22751125;22788920;22848756;22863883;23156805;23207240;23225169;23240027;23246001;23252748;23393362;23403634;23479728;23538445;23539542;23618690;23699656;23818254;23857156;23990677;24302728;24317109;24583282;24816145;25065467;8125298;8889548;8889549 56616 F5GX50;F5GXT8;F5GYH3;F5H0Q4;F5H796;F8W6K8;H7BZK7;H7BZQ7;K7X1S0;Q502X2;Q9NR28 ABBA01060475;ABBA01060476;ABBA01060477;ABBA01060478;ABBA01060479;AC048338;AF262240;AF298770;AK001399;AK024768;AK057778;AK222664;AK315629;AMYH02027416;AMYH02027417;AY313210;BC004417;BC011909;BC046209;BC095468;BF313712;BF724951;BM746689;CD742753;CF128595;CH471054;DA877400;DA910387;DA915183;DB254800;JX679472;N66735;NG_029459;NM_001278302;NM_001278303;NM_001278304;NM_001278342;NM_019887;NM_138930 AAF87716;AAG22077;AAH04417;AAH11909;AAH95468;AAQ86939;ABM83987;ABM87312;AFX61342;BAB14994;BAB71568;BAD96384;BAG37997;BAG50903;EAW98311;EAW98312;EAW98313;EAW98314;EAW98315;EAW98316;NP_001265231;NP_001265232;NP_001265233;NP_001265271;NP_063940;NP_620308;Q9NR28 Hs.169611 1666483;1676484;1686096;2186117;5016781;5022578 D12S1399;D12S1578;D1S1423;NIB962;RH92426;SHGC-67307 DFNA64;DIABLO-S;FLJ10537;FLJ25049;SMAC;SMAC3 0610041G12Rik;OTTHUMP00000211306;OTTHUMP00000211307;OTTHUMP00000211309;OTTHUMP00000239748;OTTHUMP00000239749;diablo homolog, mitochondrial;diablo, mitochondrial;direct IAP-binding protein with low pI;mitochondrial Smac protein;second mitochondria-derived activator of caspase APPROVED protein-coding ENSG00000184047 HGNC:21528 05560 605219;614152 REVIEWED 6769206 DIO2-AS1 DIO2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 14 14 80677762 80921810 + 80211419 80455467 + 8554872 100628307 ABBA01030614;ABBA01030615;ABBA01030616;AC007372;AC010849;AL049837;AMYH02029613;AMYH02029614;AMYH02029615;AMYH02029616;BC039670;HG506417;NR_038355 Hs.623865 APPROVED ncrna ENSG00000258766 HGNC:44153 VALIDATED 1603655 DIMT1 DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN rRNA methylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 5 5 5 q12.1 58680274 58695692 - 61684351 61699728 - 62388524 62403901 - 6480464;8554872 11124703;12429849;12477932;15489334;16341674;17314511;18187620;19454010;19615732;19738201;20020773;21139048;21145461;21282530;21832049;21890473;21906983;21907836;21963094;22623428;22863883;23000965;23824909;24778252;24816145;25027693;9584194 27292 D6RCL3;Q9UNQ2 ABBA01048365;ABBA01048366;AC016637;AF091078;AF102147;AJ009761;AK292723;AK299480;AMYH02011386;BC002841;BC010874;BC017885;BM749030;CH471137;NM_014473 AAC72947;AAC97955;AAH02841;AAH10874;ABM82408;ABM85595;ABM85767;BAF85412;BAG61444;CAA08815;EAW51384;EAW51385;EAW51386;NP_055288;Q9UNQ2 Hs.731665 1684180;1717625;2113788;2173038 AB060843;RH122117;RH93835;SGC32025 DIM1;DIMT1L;HSA9761;HUSSY5 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase;18S rRNA dimethylase;OTTHUMP00000161884;OTTHUMP00000221860;S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase;dimethyladenosine transferase;probable 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase;probable 18S rRNA dimethylase;probable S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase;probable dimethyladenosine transferase APPROVED protein-coding HGNC:30217 13676 612499 VALIDATED 68623 DIO3 deiodinase, iodothyronine, type III The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in the pregnant uterus, placenta, fetal and neonatal tissues, suggesting that it plays an essential role in the regulation of thyroid hormone inactivation during embryological development. This protein contains a selenocysteine (Sec) residue, which is essential for efficient enzyme activity. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 14 14 14 q32 82082777 82084878 + 102027688 102029789 + 101561351 101563452 + 1580863;2303417;6480464;8554872 18259611 12419801;12477932;12586771;12746313;12847093;12943987;14962667;1519445;15240580;15489334;16037131;16131329;16131330;17709427;18176563;18356288;18492748;19190113;19548001;19819956;19966805;20566590;20724312;21398344;21737452;21828183;21832049;22823995;22825660;23235188;23271316;23857380;24123616;24816254;24878678;7593630;9787088 1735 P55073;Q86TU3 ABBA01048509;AL049836;AMYH02029877;BC017717;BX161470;CH471061;NM_001362;S79854 AAB35616;AAH17717;CAD61926;EAW81747;NP_001353;P55073 Hs.49322 1700500;2131597;5491922 MARC_54596-54595:1155067325:1;RH103871;STS-S79854 5DIII;D3;DIOIII;TXDI3 OTTHUMP00000218716;iodothyronine deiodinase, placental type;thyroxine deiodinase type III (selenoprotein);type 3 DI;type 3 iodothyronine selenodeiodinase;type III iodothyronine deiodinase;type-III 5' deiodinase;type-III 5'-deiodinase APPROVED protein-coding ENSG00000197406 HGNC:2885 11867 601038 REVIEWED 735779 DIO2 deiodinase, iodothyronine, type II The protein encoded by this gene belongs to the iodothyronine deiodinase family. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It is highly expressed in the thyroid, and may contribute significantly to the relative increase in thyroidal T3 production in patients with Graves disease and thyroid adenomas. This protein contains selenocysteine (Sec) residues encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 14 14 14 q24.2-q24.3 60701940 60716595 - 80663868 80697397 - 80197525 80231054 - 68235;1580863;1626437;1626439;2313698;2313696;6480464;8554872 11872697;17077128;17224473;18198294;8755651 10343107;10614643;11089566;11165050;11716036;11716958;11897672;12089359;12153750;12198238;12477932;12586771;12699588;12775767;12847093;12865408;12933904;1400883;15240580;15286152;15291742;15727947;15785240;15797963;15965468;16127464;16131328;16140305;16144953;16356084;16728495;16728541;16889485;16928685;17105838;17244789;17381351;17389255;17408423;17452445;17504898;17991726;18073314;18285610;18334578;18349068;18492748;18514391;19018782;19178511;19190113;19293265;19322201;19427350;19651899;19684474;20176747;20178852;20200941;20373986;20379614;20566590;20930717;21054208;21292729;21323585;21685153;21715540;21987572;22048657;22053000;22142372;22207295;22259052;22307573;22353746;22492780;22689263;23013882;23193417;23296253;23329579;23719846;24058403;24196352;24355051;24480136;24878678;25074266;8619474;8770868;9110174;9837913 1734 A8K845;G3V2A7;G3V3A8;H0YJ42;H0YJQ8;Q92813;Q9HCP7 AB039888;AB041843;AB041844;ABBA01030616;AC007372;AF007144;AF093774;AF123661;AF188709;AI248279;AI697311;AI701403;AI888658;AK292210;AK311603;AMYH02029613;AMYH02029614;BC063118;BC074882;BC136514;BF224328;CD691767;CD701270;CH471061;NM_000793;NM_001007023;NM_001242502;NM_001242503;NM_013989;U53506 AAC50663;AAC95470;AAD45494;AAF37612;AAH63118;AAH74882;AAI36515;BAB16838;BAB16839;BAB21594;BAF84899;EAW81320;EAW81321;EAW81322;EAW81323;EAW81324;EAW81325;NP_000784;NP_001007024;NP_001229431;NP_001229432;NP_054644;Q92813 Hs.202354;Hs.708526;Hs.732170 1679451;1708032;1736460;1775665;2109239;2114313;2116085;2123756 A006X29;D14S715E;DIO2_8299;RH11267;RH68849;RH91531;SHGC-81380;WI-22325 5DII;D2;DIOII;SelY;TXDI2 OTTHUMP00000246034;OTTHUMP00000246219;OTTHUMP00000246220;OTTHUMP00000246221;deiodinase-2;deiodonase-2;thyroxine deiodinase, type II;type 2 DI;type 2 iodothyronine deiodinase;type II iodothyronine deiodinase;type-II 5'-deiodinase;type-II 5'deiodinase APPROVED protein-coding ENSG00000211448 HGNC:2884 09027 601413 REVIEWED 1604367 DIEXF digestive organ expansion factor homolog (zebrafish) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN multicellular organismal development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsane; arsenic atom; arsenite(3-) 1 1 1 q32.2 183232203 183261798 + 210001312 210030910 + 209827967 209857565 + 6480464;8554872 12477932;14702039;15489334;16189514;16322560;16344560;16710414;19471022;21139048;21832049;21906983;22108332;22586326;24816145 27042 H7C2R4;Q68CQ4 ABBA01048213;AK022766;AK096118;AK123674;AK289613;AK295799;AK314061;AL022398;AL022728;AMYH02002601;BC022964;BX345520;BX648514;CH471100;CR749825;DA256510;NM_014388;XM_006711275 AAH22964;BAB14235;BAF82302;BAG53934;BAH12189;CAH18684;CAH56170;EAW93436;EAW93437;NP_055203;Q68CQ4;XP_006711338 Hs.194754 1687137;1700568;1725497;1858474;2182927;5111745 AL009858;AL033672;RH103906;RH119145;RH69476;SHGC-76285 C1orf107;DEF;DJ434O14.5;DKFZp686E19106;FLJ12704;FLJ41680;MGC29875;UTP25 OTTHUMP00000034820;OTTHUMP00000107267;digestive organ expansion factor homolog;digestive-organ expansion factor homolog APPROVED protein-coding ENSG00000117597 HGNC:28440 14535 VALIDATED 5688841 DIP2A-IT1 DIP2A intronic transcript 1 (non-protein coding) 21 21 q22.3 47882384 47889219 + 46462471 46469306 + 8889548 100862692 ABBA01021768;ABBA01021769;AMYH02037959;AP000337;BM929894;HG511946;NR_046400 Hs.737163 AP000337.3 ncrna HGNC:41430 VALIDATED 1319135 DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 21 21 21 q22.3 32992036 33103092 + 47878862 47989926 + 46458949 46570013 + 6480464 11675124;11812785;12036298;12137943;12477932;14637006;14702039;15489334;16344560;17236128;18218781;20054002;20860622;21139048;21890473;21906983;21963094;23455924;24250222;8724849 23181 Q14689;Q96NX2 AB273729;ABBA01021768;ABBA01021769;ABBA01021770;ABBA01021771;AF432263;AF490768;AK054807;AK056738;AK091790;AK098236;AK124731;AK303351;AL137672;AMYH02037959;AMYH02037960;AMYH02037961;AP000337;AP000338;BC033718;BC038443;BC039427;BC046176;BE876989;BF509590;BQ017399;BX410051;CH471079;CK821329;DA326960;NG_015996;NM_001146114;NM_001146115;NM_001146116;NM_015151;NM_206889;NM_206890;NM_206891;XM_006723980 AAH33718;AAH38443;AAL28109;AAM18046;ADZ15713;BAB71268;BAC05266;BAF69070;BAG64412;CAB70868;EAX09271;EAX09272;EAX09273;EAX09274;EAX09275;NP_001139586;NP_001139587;NP_001139588;NP_055966;NP_996772;NP_996773;NP_996774;Q14689;XP_006724043 Hs.189585 1335114;1732039;1759929;1759931;1853727;5014051;5022200;5024761;5037552 D21S1271;D21S2058;D8S2278;D8S2279;L18426;RH36905;SHGC-170321;SHGC-170322;SHGC-37479 C21orf106;DIP2 DIP2 homolog A;OTTHUMP00000115890;OTTHUMP00000225564;OTTHUMP00000225565;OTTHUMP00000225566;OTTHUMP00000225567;chromosome 21 open reading frame 106;disco-interacting protein 2 homolog A;disco-interacting protein 2A APPROVED protein-coding ENSG00000160305 HGNC:17217 07611 607711 REVIEWED 1319699 DICER1 dicer 1, ribonuclease type III This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 14 14 14 q32.13 75608684 75679876 - 95552565 95623759 - 95086228 95157422 - 1580863;4144851;6480464;7240710;8554872;8699517 20661255 10051563;10231032;10727850;10786632;12110183;12168954;12411504;12411505;12477932;12526743;12527779;12906857;14576312;14702039;14749716;15174051;15242644;15247924;15342556;15592455;15811921;15973356;15987463;16095561;16142218;16357216;16380083;16424907;16582496;17071602;17181864;17303335;17317629;17332367;17360756;17379831;17452327;17482383;17531811;17663774;18023283;18029348;18167183;18178619;18239938;18289125;18325616;18413723;18508075;18637735;18644891;18700235;18927112;18978195;19017633;19022417;19047128;19082437;19092150;19118902;19127773;19138993;19155329;19219043;19393748;19422693;19460752;19520829;19556464;19615732;19646895;19672267;19678941;19716330;19782670;19806572;19836333;19851984;19914350;20201926;20210522;20211803;20232482;20237275;20301471;20339536;20405249;20463238;20530258;20550935;20584909;20615407;20721975;20730047;20732906;20805302;20819778;20869963;20932845;20962848;20974746;21029372;21036787;21044367;21048142;21139048;21145461;21160068;21205968;21266384;21297615;21297638;21306637;21345667;21346072;21425145;21501861;21559780;21698147;21753850;21761362;21769619;21827717;21858095;21878538;21882293;21889945;21890473;21898071;21903422;21937200;21953080;21988832;22055188;22133720;22163034;22179432;22180160;22187960;22252463;22310293;22320315;22350415;22371183;22381205;22394132;22407237;22426548;22446887;22479364;22541070;22546613;22586326;22615744;22647351;22678362;22689055;22718634;22727743;22737231;22745131;22766726;22808238;22821364;22867905;22922797;22972926;22984192;22999255;23047949;23064648;23068969;23071822;23141545;23143396;23192594;23251602;23266047;23307239;23311378;23349018;23392577;23402259;23418872;23426981;23438482;23441612;23443559;23455922;23468895;23472152;23519840;23547758;23550157;23620094;23624860;23625684;23663110;23728841;23752268;23763383;23849790;23851498;23868280;23868705;23882114;24025624;24035498;24094887;24096488;24136150;24163352;24204924;24220032;24223844;24244599;24287487;24317682;24324261;24337369;24386264;24462910;24486018;24602972;24617712;24668803;24675358;24761742;24778252;24814348;24816145;25115815;8619474;9110174 23405 H0YJZ6;Q5D0K5;Q9UPY3 AB023145;AB028449;ABBA01030404;ABBA01030405;ABBA01030406;AF007142;AJ132261;AK001041;AK001827;AK002007;AK091094;AK091513;AL122105;AL356017;AL390254;AL832389;AMYH02029791;AMYH02029792;AW297296;AY845867;AY845868;AY929254;AY929255;AY929256;BC046934;BC068591;BC150287;BI913232;BM152875;BP199059;BQ937506;CH471061;HC879392;HD033101;HM595745;KJ175111;NG_016311;NM_001195573;NM_001271282;NM_001291628;NM_030621;NM_177438 AAI50288;AAW31883;AAW31884;AAX18334;AAX18335;AAX18336;ADK25182;AIK25433;BAA76772;BAA78691;BAG51002;BAG52376;CAB38857;CAB59269;CBM42912;CBV35645;EAW81595;EAW81596;NP_001182502;NP_001258211;NP_001278557;NP_085124;NP_803187;Q9UPY3 Hs.738957;Hs.87889 1338727;1673494;1689504;1690548;1690550;1699436;1739633;1770914;1778033;1797476;2131225;2151111;2186906;2187269 A003B15;Cda1bd03;D14S1030;D14S892E;DICER1_2299;G35622;RH103309;RH47658;RH48955;RH68069;RH70750;RH78640;RH98980;SHGC-59954 DCR1;Dicer1e;K12H4.8-LIKE;KIAA0928;MNG1;RMSE2 Dicer;Dicer1, Dcr-1 homolog;HERNA;OTTHUMP00000231970;OTTHUMP00000231971;OTTHUMP00000231972;dicer 1, double-stranded RNA-specific endoribonuclease;endoribonuclease Dicer;helicase MOI;helicase with RNAse motif;helicase-moi;multinodular goitre 1 APPROVED protein-coding ENSG00000100697 HGNC:17098 05875 138800;180295;601200;606241 REVIEWED 1346607 DIP2C DIP2 disco-interacting protein 2 homolog C (Drosophila) This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008] 10 10 10 p15.3 274747 488085 - 320130 735621 - 274190 689677 - 737633;1580863;6480464 12477932 10231032;12137943;12168954;14702039;15489334;17236128;19851296;19913121;20198315;20211142;20379614;20628086;21890473;21906983;22005930;22610502;23703922 22982 B4DPI5;E7EPU2;F6XJ20;H0Y5A8;H0Y7Q3;Q86XV3;Q9Y2E4 AB023151;ABBA01035270;ABBA01035271;ABBA01035272;ABBA01035273;ABBA01035274;ABBA01035275;AF332380;AI913413;AK126063;AK298353;AK309715;AK310018;AK310613;AK311679;AL157709;AL358216;AL359957;AL603831;AL669841;AMYH02021968;AMYH02021969;AMYH02021970;AMYH02021971;AMYH02021972;AMYH02021973;AMYH02021974;AMYH02021975;AMYH02021976;AMYH02021977;AMYH02021978;BC035216;BC048327;BC063313;BX537672;CH471072;N27959;NM_014974;XM_005252426;XM_005252427;XM_005252428;XM_005252429;XM_005252430 AAH48327;AAH63313;BAA76778;BAG54284;BAG60597;EAW86536;NP_055789;Q9Y2E4;XP_005252483;XP_005252484;XP_005252485;XP_005252486;XP_005252487 Hs.432397 1337064;1654438;1681211;1701066;1712777;1730325;1753415;1763227;1779490;1781898;1782226;1782228;1789060;1849711;1856450;1857378;2122798;2152396;7184690 D10S243E;D10S2488;G31010;G31457;G65666;RH104160;RH120101;RH44482;RH94311;SHGC-106888;SHGC-107228;SHGC-146958;SHGC-153467;SHGC-52705;SHGC-86301;SHGC-86305;STS-N35887;WI-19371 FLJ34444;FLJ44075;KIAA0934;RP11-486H9.2 DIP2 homolog C;OTTHUMP00000018940;disco-interacting protein 2 homolog C APPROVED protein-coding ENSG00000151240 HGNC:29150 17200 611380 REVIEWED 1349148 DIO3OS DIO3 opposite strand/antisense RNA (head to head) The mouse and human DIO3OS and DIO3 (MIM 601038) genes overlap and are transcribed in opposite directions. The mouse Dio3 gene is imprinted from the paternal allele during fetal development, suggesting that DIO3OS is a noncoding gene that may have a role in maintaining monoallelic expression of DIO3 (Hernandez et al., 2004 [PubMed 14962667]).[supplied by OMIM, Mar 2008] 14 14 14 q32.31 82073649 82077102 - 102018560 102022013 - 101552223 101555676 - 6480464;8554872 12477932;14962667;23192594 64150 ABBA01048510;AF305836;AF469199;AF469200;AF469201;AF469202;AF469203;AF469204;AF469205;AF469206;AF469207;AF469208;AL049836;AMYH02029877;BC037351;BC065701;BC111049;NR_002770 Hs.525597;Hs.660271;Hs.745484 1658581;1689372;1689374 RH79574;RH94116;SHGC-58276 C14orf134;DIO3-AS1;DIO3-OS;NCRNA00041 APPROVED ncrna HGNC:20348 608523 PROVISIONAL 1353153 DIRC1 disrupted in renal carcinoma 1 This gene consists of two exons and encodes a 104aa protein. Disruption of this gene by translocation t(2;3)(q33;q21) is associated with familial clear cell renal cancer. [provided by RefSeq, Sep 2010] 2 2 2 q33 183193383 183249705 - 189598465 189654831 - 188733738 188790104 - 6480464;8554872 11587072;11776380;12477932;15489334;15815621;20648054;23251661 116093 Q969H9 ABBA01062370;AC079613;AMYH02005420;AMYH02005421;AMYH02005422;AY039011;AY039012;AY039013;BC125137;CH471058;NG_027691;NM_052952 AAI25138;AAK83468;AAK83469;AAY15021;EAX10912;NP_443184;Q969H9 Hs.470892 2176216;2220484 D2S1815;UniSTS:483519 OTTHUMP00000163483;disrupted in renal cancer protein;disrupted in renal carcinoma protein 1 APPROVED protein-coding HGNC:15760 16219 606423 REVIEWED 1605978 DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila) This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011] 12 12 12 q13.12 49696900 49942829 + 50898768 51142450 + 50504985 50748667 + 6480464;7240710;8699517 10819331;12477932;14702039;15028280;15302935;15531550;17236128;19322201;19946888;20379614;20562859;20972440;21139048;21693764;21890473;21906983;21963094;22053931;22145905;22505724;23000965;23969696 57609 H0YIU5;Q7Z3H2;Q96IB4;Q9P265 AB040896;ABBA01031577;ABBA01031578;ABBA01031579;ABBA01031580;ABBA01031581;ABBA01031582;ABBA01031583;ABBA01031584;AC078818;AC090021;AC090058;AC125605;AK091597;AK094890;AK097369;AK126758;AMYH02026461;AMYH02026462;AMYH02026463;AMYH02026464;AMYH02026465;AMYH02026466;AMYH02026467;AMYH02026468;BC007671;BC030156;BC075027;BU101773;BU102128;BU429622;BX537905;CH471111;NG_021196;NM_173602;XM_005269044;XM_006719520;XM_006719521;XM_006719522 AAH07671;AAH30156;AAH75027;BAA95987;BAC03705;BAC05025;CAD97891;EAW58149;EAW58150;NP_775873;Q9P265;XP_005269101;XP_006719583;XP_006719584;XP_006719585 Hs.505516 1334861;1661337;1675971;1676640;1693614;1705340;1726137;1736286;1746261;1758051;1758393;1765361;1788958;2119146;2159080 D12S1237E;D12S1635;D12S2016;G62410;G64372;G65554;RH47661;RH94010;RH94013;SHGC-147220;SHGC-148226;SHGC-148853;SHGC-58527;SHGC-83522;STS-H13700 KIAA1463;MGC104005 OTTHUMP00000241215;disco-interacting protein 2 homolog B APPROVED protein-coding ENSG00000066084 HGNC:29284 08751;11148 136630;611379 REVIEWED 1343615 DIRAS3 DIRAS family, GTP-binding RAS-like 3 This gene is a member of the ras superfamily, and is expressed in normal ovarian and breast epithelial cells, but not in ovarian and breast cancers. It is an imprinted gene, with monoallelic expression of the paternal allele, which is associated with growth suppression. Thus, this gene appears to be a putative tumor suppressor gene whose function is abrogated in ovarian and breast cancers. [provided by RefSeq, Oct 2010] 1 1 1 p31 66802348 66807163 - 68511645 68517314 - 68045962 68050997 - 6480464;8554872 11418188;12477932;12485503;12771940;12874023;14506155;14702039;15489334;16061651;16158053;16710414;18286529;18302158;18612997;19033662;19435463;19482475;19639215;19759414;21093415;21244707;21602127;21643014;21933150;22117988;22427032;22497484;22605333;23157514;23247805;23447002;23604529;23678541;23801152;23871723;24458808;9874798 9077 O95661 ABBA01074511;AF202543;AK021882;AK096393;AL157407;AMYH02001209;AMYH02001210;AX878773;BC005362;CH471059;CR541870;CR541892;NG_011753;NM_004675;U96750;XM_006711027 AAD03164;AAG35625;AAH05362;ABM83985;ABM87308;BAG51055;CAE90252;CAG46668;CAG46690;EAX06483;NP_004666;O95661;XP_006711090 Hs.194695 1693170;1777411;2137234 AL034314;D1S3040;SHGC-57898 ARHI;NOEY2 GTP-binding protein Di-Ras3;OTTHUMP00000011138;distinct subgroup of the Ras family member 3;ras homolog gene family, member I;rho-related GTP-binding protein RhoI APPROVED protein-coding ENSG00000162595 HGNC:687 05547 605193 REVIEWED 1350473 DIRC3 disrupted in renal carcinoma 3 INTERACTS WITH progesterone 2 2 2 q35 211916548 212389202 - 218148746 218621316 - 217284023 217756593 - 6480464 12939738;14702039;20881960;21998595;22267200;23319000;23535729;23894154 729582 C9JPN6 ABBA01062832;ABBA01062833;AC009492;AC010886;AC011235;AK024261;AK090954;AMYH02005777;AMYH02005778;AMYH02005779;AMYH02005780;AMYH02005781;AMYH02005782;AMYH02005783;NR_026597 Hs.572788 1299945;1334976;1338282;1342373;1678593;1691304;1700196;1707312;1711028;1756315;1760591;1947174;2138244 D2S1286;D2S1371;D2S2210;D2S295;D2S434;REN44432;RH103713;RH80987;RH93263;SHGC-143297;SHGC-144143;SHGC-79260;SHGC-84896 FLJ14199 ncrna HGNC:17805 608262 PREDICTED 1313693 DIRAS2 DIRAS family, GTP-binding RAS-like 2 DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004] 9 9 9 q22.2 63806753 63839749 - 93372114 93405108 - 90609832 90642826 - 1580863;6480464 12194967;12477932;14702039;15164053;15489334;17207965;17500595;17903297;18464913;20379614;21139048;21750579;21890473 54769 Q96HU8 AB076889;ABBA01012841;AK122986;AK124628;AL137308;AL353619;AMYH02021198;BC008065;CH471089;NM_017594 AAH08065;ADQ32818;BAC01116;BAG53834;EAW62780;NP_060064;Q96HU8 Hs.165636 1657823;2114042;2164537;2185936 A007K29;AB062937;RH35827;WI-21169 DKFZp761C07121;Di-Ras2 GTP-binding protein Di-Ras2;OTTHUMP00000021626;distinct subgroup of the Ras family member 2 APPROVED protein-coding ENSG00000165023 HGNC:19323 09711 607863 VALIDATED 1312206 DIS3 DIS3 exosome endoribonuclease and 3'-5' exoribonuclease ENCODES a protein that exhibits 3'-5'-exoribonuclease activity; endonuclease activity; guanyl-nucleotide exchange factor activity; INVOLVED IN CUT catabolic process; nucleic acid phosphodiester bond hydrolysis; positive regulation of GTPase activity; FOUND IN cytoplasm; membrane; nuclear exosome (RNase complex); INTERACTS WITH cadmium atom; mitoxantrone; tunicamycin 13 13 13 q22.1 54228002 54254806 - 73329540 73356344 - 72755402 72782153 - 1580863;6480464 10231032;11110791;11719186;11812149;11935316;12168954;12419256;12429849;12477932;12788944;14702039;15057823;15231747;15489334;15635413;16344560;19056938;19471022;19615732;19946888;20531386;20531389;21139048;21145461;21252943;21255825;21890473;21963094;22505724;22586326;22863883;22939629;23000965;24150935;24478024;24816145;25027693;8619474;9110174;9562621 22894 F2Z2C0;G3V1J5;Q9Y2L1 AB001743;AB023225;ABBA01050336;AF035310;AF330044;AK001346;AK025634;AK314715;AL080158;AL138695;AL391384;AL832266;AMYH02028251;BC012468;BC038101;BC056143;CH471093;DB075344;DB091752;NM_001128226;NM_014953;U79246;XM_005266294;XM_006719778 AAH38101;AAH56143;AAL37479;BAA76852;BAF92610;BAG37259;BAG50895;CAB45749;CAH56266;EAW80517;EAW80518;EAW80519;EAW80520;EAW80521;NP_001121698;NP_055768;Q9Y2L1;XP_005266351;XP_006719841 Hs.744104 1647455;1658740;1738439;1739623;1772330;2126764;2169355;2176579;2180629;2189789;5022425;5037552;5491683 126o3FWD;D13S1090E;D13S1212E;D22S296;D8S2279;MARC_7833-7834:996688078:3;RH15742;RH67956;RH78453;SHGC-34349;SHGC-8155;WI-11923;WI-20990 2810028N01Rik;DKFZp667L1817;EXOSC11;FLJ10484;KIAA1008;MGC33035;RP11-342J4.3;RRP44;bA555G22.1;dis3p DIS3 mitotic control homolog;OTTHUMP00000018498;OTTHUMP00000018499;OTTHUMP00000018500;exosome complex exonuclease RRP44;exosome component 11;mitotic control protein dis3 homolog;protein DIS3 homolog;ribosomal RNA-processing protein 44 APPROVED protein-coding ENSG00000083520 HGNC:20604 06338 607533 VALIDATED 1321350 DIRAS1 DIRAS family, GTP-binding RAS-like 1 DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004] 19 19 19 p13.3 2650904 2657729 - 2714565 2721390 - 2714567 2721392 - 1580863;6480464 12107278;12194967;12477932;15057824;15489334;16344560;19953087;21139048;21832049;21890473;23436800;24324551 148252 K7EN06;O95057 AB076888;ABBA01002764;ABBA01002765;AC006538;AK124445;AK124672;AL833958;AMYH02035216;AY056037;AY059641;AY180973;BC017484;BC030660;DA754806;NM_145173 AAD13119;AAH30660;AAL17968;AAL23715;AAO22153;ABM82576;ABM85765;ABM85766;BAC01115;NP_660156;O95057 Hs.172753 1791774;2127130 PMC125049P1;RH78245 Di-Ras1;FLJ42681;GBTS1;RIG GTP-binding protein Di-Ras1;distinct subgroup of the Ras family member 1;ras-related inhibitor of cell growth;small GTP-binding tumor suppressor 1 APPROVED protein-coding ENSG00000176490 HGNC:19127 09710 607862 VALIDATED 1322124 DIRC2 disrupted in renal carcinoma 2 This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008] 3 3 3 q21.1 120923989 121010083 + 122513901 122599986 + 122795054 122881139 + 1601072;6480464;7240710;8699517;8554872 11912179 12237231;12477932;14702039;15342556;15489334;16344560;21692750;24250222 84925 Q05BS2;Q96SL1 AA625541;ABBA01016466;AC048348;AC078794;AI079410;AI799012;AK027690;AK075158;AK291176;AMYH02007543;AMYH02007544;AMYH02007545;BC022204;BC033738;BC039821;BP377383;CH471052;DA268974;NG_023324;NM_032839 AAH33738;AAH39821;BAB55300;BAC11440;BAF83865;EAW79459;EAW79460;EAW79461;EAW79462;NP_116228;Q96SL1 Hs.477346 1658117;1659469;1663347;1735230;1770283;2119884;2218488 D3S2898E;D3S4220;DIRC2__4741;G16567;RH12232;STS-N25987;WI-20374 FLJ14784;RCC4 OTTHUMP00000215806;disrupted in renal cancer protein 2;disrupted in renal carcinoma protein 2;renal cell carcinoma 4 APPROVED protein-coding ENSG00000138463 HGNC:16628 04142 144700;602773 REVIEWED 1347711 DISC2 disrupted in schizophrenia 2 (non-protein coding) DISC2 is thought to specify a noncoding RNA molecule antisense to DISC1 (MIM 605210). Both genes were found to be disrupted by a translocation in a large schizophrenia (MIM 181500) kindred.[supplied by OMIM, Jul 2002] 1 1 1 q42.1 205219208 205223097 - 231950372 231954263 - 231814626 231818517 - 7240710;8699517 10814723;15478311;17912248;18164685;20339536 27184 ABBA01033044;AF222981;AL136171;AMYH02002894;NG_011681;NR_002227 Hs.720568 1341601;2152573;2174588 D1S1621;D1S1624;D1S3462 DISC1-AS1;DISC1OS;NCRNA00015 APPROVED ncrna HGNC:2889 181500;606271 VALIDATED 1604754 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012] 2 2 2 q37.1 226589534 226966072 + 232826293 233208678 + 231961583 232343968 + 6480464;8699517;7240710;8554872 11352565;12477932;14702039;16169070;16344560;18391951;19570815;20189936;20301471;20379614;21282530;21906983;22306653;23503588;23563607;23613427;24141620;24457600;24816145 129563 C9JGP4;H7C036;H7C1Q8;H7C302;H7C440;Q8IYB7 AA781347;ABBA01002021;ABBA01002022;ABBA01002023;ABBA01002024;ABBA01002025;ABBA01002026;ABBA01002027;ABBA01002028;ABBA01002029;AC013435;AC019130;AC068134;AC093374;AC105461;AC138658;AF443854;AK090419;AK094293;AK295363;AL834174;AMYH02005979;AMYH02005980;AMYH02005981;AMYH02005982;AMYH02005983;AMYH02005984;AW589919;BC026166;BC030113;BC036113;BG746662;BM128478;BX648325;CH471063;DA058505;NG_032572;NM_001257281;NM_001257282;NM_152383;NR_046476;NR_046477 AAH26166;AAH36113;AAP97321;AAX82031;AAY24086;ABW03373;ABW03712;BAC03400;BAC04324;BAG58327;CAH10545;CAH10694;EAW70988;NP_001244210;NP_001244211;NP_689596;Q8IYB7 Hs.732236 1647608;1672440;1705162;1758025;1769279;1783948;2137976;2140911;2159100;5015861;5093930 A009Z08;D10S16;D2S1819;D2S2801;G33007;RH68821;RH70119;RH78132;SHGC-112113;SHGC-147151;SHGC-80023 FAM6A;FLJ36974;MGC42174;PRLMNS;hDIS3L2 DIS3 mitotic control homolog-like 2;DIS3-like exonuclease 2;OTTHUMP00000203799;OTTHUMP00000203808;family with sequence similarity 6, member A APPROVED protein-coding ENSG00000144535 HGNC:28648 14619 267000;614184 REVIEWED 6480589 DISC1FP1 DISC1 fusion partner 1 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 11 11 q14.3 90277786 90585875 + 90251232 90915052 + 8554872 18347596;20041166;20351725;21697133;22547224;8889548 101929222 AB593165;ABBA01040067;ABBA01040068;ABBA01040069;ABBA01040070;ABBA01040071;AK130626;AMYH02025313;AMYH02025314;AMYH02025315;AMYH02025316;AMYH02025317;AMYH02025318;AMYH02025319;AMYH02025320;AMYH02025321;AMYH02025322;AMYH02025323;AMYH02025324;AMYH02025325;AMYH02025326;AMYH02025327;AP000651;AP000684;AP001875;AP002002;AP002364;AP002782;AP003058;BM689797;BU599486;CK000409;EU302123;GU134617;KF455445;NR_104190 Hs.616763;Hs.650302 Boymaw ncrna ENSG00000261645 HGNC:33625 VALIDATED 1317002 DISP1 dispatched homolog 1 (Drosophila) The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008] 1 1 1 q41 196320905 196398522 + 222988342 223179337 + 222815089 223005995 + 737633;5510026;6480464;8554872 12477932;20635334 10619433;12372301;14702039;16258256;16344560;19184110;20301702;20379614;20799323;20951845;21139048;22733134 84976 Q96F81 ABBA01048045;ABBA01048046;AC093152;AK023679;AK026114;AK056569;AK098669;AK125728;AL133092;AL392172;AL513544;AMYH02002750;AMYH02002751;AMYH02002752;BC007734;BC011542;BC107762;CH471100;DA756409;HG493249;LK938662;NG_009243;NM_032890;XM_005273335;XM_005273336;XM_006711592;XM_006711593;XM_006711594;XM_006711595 AAH07734;AAH11542;AAI07763;BAB14637;BAB15365;BAC05373;BAG51751;CAB61406;EAW93264;NP_116279;Q96F81;XP_005273392;XP_005273393;XP_006711655;XP_006711656;XP_006711657;XP_006711658 Hs.528817;Hs.692324 1680140;1795690;2122938;2191313;5015619;5015961;5024756;5037552;5118877 CHLC.GGAA11H01;D11S3114;D11S3745;D15S1477;D8S2279;DISPA__1191;MARC_17261-17262:1024683436:1;RH80030;RH98328 DKFZp434I0428;FLJ43740;MGC104180;MGC13130;MGC16796;RP11-452F19.3 DISPA;OTTHUMP00000036011;dispatched A;protein dispatched homolog 1 APPROVED protein-coding ENSG00000154309 HGNC:19711 06326 607502 REVIEWED 1606984 DIS3L DIS3 like exosome 3'-5' exoribonuclease ENCODES a protein that exhibits 3'-5'-exoribonuclease activity; enzyme binding; INVOLVED IN RNA phosphodiester bond hydrolysis, exonucleolytic; rRNA catabolic process; FOUND IN cytoplasmic exosome (RNase complex); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; cobalt dichloride 15 15 15 q22.31 43475728 43516367 + 66585633 66626236 + 66293278 66333898 + 6480464 11853319;12477932;14702039;15342556;16341674;18029348;20531386;20531389;21906983;21963094;22990118;24483146 115752 B4DI34;E9PI20;E9PI27;E9PIL0;E9PKI7;E9PS35;Q8TF46 AB075835;ABBA01038828;ABBA01038829;ABBA01038830;AC055855;AF147431;AK095407;AK295392;AMYH02030642;AMYH02030643;AMYH02030644;BC014124;BC022089;BG722405;BM833083;BP219623;CH471082;NM_001143688;NM_133375;XM_005254144;XM_005254145;XM_005254146;XM_005254147 AAH14124;AAH22089;ABM84396;ABW03567;BAB85541;BAC04542;BAG58346;EAW77758;EAW77759;EAW77760;EAW77761;NP_001137160;NP_588616;Q8TF46;XP_005254201;XP_005254202;XP_005254203;XP_005254204 Hs.446251;Hs.658492 1646271;1728713;5021872;5037552 D8S2279;G63728;WI-15104;sY3084 DIS3L1;FLJ38088;KIAA1955;MGC4562 DIS3 mitotic control homolog-like;DIS3-like exonuclease 1;OTTHUMP00000164237;OTTHUMP00000228982 APPROVED protein-coding ENSG00000166938 HGNC:28698 11355 614183 VALIDATED 5132237 DKFZp451A211 uncharacterized LOC400169 13 q34 94883239 94888583 - 12477932 400169 AL160251;BC036906;BX647655;XM_003403663 XP_003403711 Hs.646609 1736322 D13S826E APPROVED protein-coding 13202 1352451 DIS3L2P1 DIS3L2 pseudogene 1 2 2 2 q37.1 227071053 227076980 + 233306749 233312676 + 232442039 232447966 + 11352565 282697 ABBA01002020;AC068134;AF307337;AMYH02005986;NG_009945 DIS3L2P;FAM6B APPROVED pseudo HGNC:14021 INFERRED 2291761 DKFZp566H0824 hypothetical LOC54744 p36.23 12477932 54744 AL050271;AL356072;BC029383;BC104430;BC104431;BC113958;CH471130;XR_041382;XR_041383;XR_041384 EAW71602 Hs.607837;Hs.662784 miscrna 13214 1319977 DISP2 dispatched homolog 2 (Drosophila) The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched. [provided by RefSeq, Jul 2008] 15 15 15 q15.1 17416417 17429240 + 40650434 40663256 + 40358233 40371055 + 6480464 10619433;11214970;12372301;12477932;14702039;16258256;24250222 85455 A7MBM2;H0YNF0 AB051529;ABBA01038453;AC013356;AK096153;AMYH02030237;BC151833;CH471125;CR627480;NM_033510 A7MBM2;AAI51834;AAI69315;BAB21833;CAH10680;EAW92407;EAW92408;NP_277045 Hs.355645 1663793;1771532;1797478;2111103;2125613;2157716 2178;A004U40;D15S179E;DISPB_1538;NIB1989;RH77781 DISPB;DKFZp547N223;HsT16908;KIAA1742 OTTHUMP00000160444;dispatched B;protein dispatched homolog 2 APPROVED protein-coding ENSG00000140323 HGNC:19712 06327 607503 REVIEWED 1606381 DKFZp686K16132 similar to BMP2 inducible kinase p14 12477932 388957 Q6ZSR9 AC114772;AK127187;BC073953;BC132937;BC132939;BX640963;NM_001012987 AAI32938;AAI32940;BAC86877;NP_001013005;Q6ZSR9 Hs.661949 protein-coding 10454 1349510 DKC1 dyskeratosis congenita 1, dyskerin This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] X X X q28 154149596 154164527 + 153991031 154005964 + 154762742 154777689 + 734888;1580863;6480464;6907045;7240710;8554872;8699517 9590285 10217077;10364516;10438713;10556300;10583221;10591218;10700698;10903840;11074001;11076863;11256614;11379875;11790298;12135483;12137939;12429849;12437656;12477932;12736709;15044956;15060173;15189140;15302935;15489334;15489336;15613268;15635413;15814878;16083285;16169070;16344560;16381901;16565220;16601202;16618814;16690864;16964243;17015423;17081983;17361185;17395830;17417794;17620599;17625368;17822678;18005359;18029348;18057229;18082603;18358808;18607840;18627054;18781797;18802941;18936525;19095616;19460752;19615732;19734544;19755982;19835419;19879169;20008900;20301779;20332657;20360068;20501855;20811636;21139048;21145461;21182205;21415081;21480387;21601430;21674675;21736606;21820037;21890473;21900206;21906983;21931644;21963094;21987572;22058290;22085966;22099312;22113938;22664374;22912812;22939629;22990118;23000965;23246433;23335200;23348390;23660516;23752268;23946118;24219293;24250222;24303026;24457600;24504062;24550385;24591637;24690175;24778252;24914498;7607282;8125298;8889548;9042917;9888995 1736 C9IYT0;H7BZF2;H7C0M1;H7C2Q2;H7C2Q9;O60832 ABBA01029079;ABBA01029080;ABBA01029081;ABBA01029082;AC087225;AC109993;AF067008;AF067023;AJ010395;AJ010396;AJ224481;AK225077;AK307672;AMYH02040855;AMYH02040856;AMYH02040857;BC009928;BC010015;BI858251;BU730947;CD367400;CH471172;DA429806;DB517187;HY050100;JF279874;KC954523;KC954524;KC954525;NG_009780;NM_001142463;NM_001288747;NM_001363;NR_110021;NR_110022;NR_110023;U59151 AAB94299;AAD11815;AAD20232;AAH09928;AAH10015;ABM83663;ABM86910;ADX66370;AGZ20497;AGZ20498;AGZ20499;CAA11970;CAB51168;CAL37509;CAL37701;EAW72661;EAW72662;EAW72663;NP_001135935;NP_001275676;NP_001354;O60832 Hs.4747 1651410;1799134;1810830;1811868;1812630;1814426;1817288;1817798;1818222;1820476;1820660;1821798;1823934;1825984;1827878;1827880;1833746;1835480;2039100;2039102;2039104;2039106;2039108;2039110;2039112;2039114;2039116;2039118;2039120;2039122;2039124;2039126;2039128;2039130;2039132;2039134;2039136;2039138;2039140;2039142;2039144;2039146;2039148;2039150;2039152;2039154;2039156;2039158;2039160;2039162;2039164;2039166;2039168;2039170;2039172;2039174;2039176;2039178;2039180;2039182;2039184;2039186;2039188;2039190;2039192;2039194;2039196;2039198;2039200;2039202;2039204;2039206;2039208;2039210;2039212;2039214;2039216;2039218;2039220;2039222;2039224;2039226;2039228;2039230;2039232;2039234;2039236;2039238;2102888;2102890;2102894;2102896;2102898;2102900;2102904;2102906;2176533 A004F19;ECD00413;ECD06413;ECD06938;ECD07325;ECD08242;ECD09694;ECD09953;ECD10168;ECD11313;ECD11405;ECD11985;ECD13062;ECD14101;ECD15062;ECD15063;ECD18018;ECD18896;IB1223;REN90571;REN90572;REN90573;REN90574;REN90575;REN90576;REN90577;REN90578;REN90579;REN90580;REN90581;REN90582;REN90583;REN90584;REN90585;REN90586;REN90587;REN90588;REN90589;REN90590;REN90591;REN90592;REN90593;REN90594;REN90595;REN90596;REN90597;REN90598;REN90599;REN90600;REN90601;REN90602;REN90603;REN90604;REN90605;REN90606;REN90607;REN90608;REN90609;REN90610;REN90611;REN90612;REN90613;REN90614;REN90615;REN90616;REN90617;REN90618;REN90619;REN90620;REN90621;REN90622;REN90623;REN90624;REN90625;REN90626;REN90627;REN90628;REN90629;REN90630;REN90631;REN90632;REN90633;REN90634;REN90635;REN90636;REN90637;REN90638;REN90639;REN90640;stSG604275;stSG604276;stSG604279;stSG604280;stSG604281;stSG604282;stSG604284;stSG604285 CBF5;DKC;DKCX;FLJ97620;NAP57;NOLA4;XAP101 CBF5 homolog;H/ACA ribonucleoprotein complex subunit 4;OTTHUMP00000026046;cbf5p homolog;nopp140-associated protein of 57 kDa;nucleolar protein NAP57;nucleolar protein family A member 4;snoRNP protein DKC1 APPROVED protein-coding ENSG00000130826 HGNC:2890 02129 300126;305000 REVIEWED 1320498 DIXDC1 DIX domain containing 1 The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013] 11 11 11 q23.1 108961135 109046522 + 111797868 111893374 + 111927144 112022650 + 1580863;6480464 11214970;12477932;12792787;12934113;14702039;15262978;16344560;16814745;17043677;18629627;19375513;19519246;19572978;20085589;20360068;20624590;21189423;21832049;21988832;22832659;23275563;8619474;9110174 85458 J3KQC9;Q155Q3 AB051522;AB074187;ABBA01039809;ABBA01039810;AF070621;AK055469;AK055899;AK074277;AK289807;AK294954;AMYH02025576;AMYH02025577;AP000907;AU253693;BC033034;BC035509;BC041626;BC048294;BC064479;BC128600;BX370159;CH471065;DA096120;DB358954;DB459100;DQ642016;FO082284;FP884231;HY037299;NG_033127;NM_001037954;NM_001278542;NM_033425;XM_005277726;XM_005277727;XM_005277728 AAH33034;AAH35509;AAH41626;AAH48294;AAH64479;AAI28601;ABG25914;BAB21826;BAB71039;BAF82496;BAG51522;BAG58029;EAW67171;EAW67172;EAW67173;NP_001033043;NP_001265471;NP_219493;Q155Q3;XP_005277783;XP_005277784;XP_005277785 Hs.655626 1654253;1699270;1701110;2218490;5024761 DIXDC1__4742;RH103217;RH104183;RH36905;STS-AA026898 CCD1;KIAA1735 DIX domain-containing protein 1;coiled-coil protein DIX1;coiled-coil-DIX1;dixin protein-coding ENSG00000150764 HGNC:23695 16804 610493 REVIEWED 1344026 DKK2 dickkopf WNT signaling pathway inhibitor 2 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008] 4 4 4 q25 105142017 105256526 - 107842959 107957453 - 106921802 107036296 - 1580863;2301921;6480464;6907045;8554872 17143291 10570958;11137016;11357136;11742004;12167704;12477932;12527209;12857724;12975309;15489334;16568085;18461655;18524778;19247449;19453261;19562778;19659606;19755393;20004015;20332099;20379614;21312269;21540552;22964660;23204234;23587485;24117450;24478790 27123 D6RCC2;D6RGF1;Q9UBU2 AB033208;AB033941;AB035181;ABBA01063746;ABBA01063747;AC003099;AC106863;AF177395;AK309466;AK312695;AMYH02009865;AP001819;AY358414;BC075077;BC075078;BC126328;BC126330;CH471057;NM_014421 AAF02675;AAH75077;AAH75078;AAI26329;AAI26331;AAQ88780;ADR82889;BAA85465;BAA87056;BAB20420;BAG35574;EAX06208;EAX06209;NP_055236;Q9UBU2 Hs.211869 1653794;1658420;1660656;1665133;1689702;1709408;1853753;1853755;2108751;2110841;2173692 D4S3256;DKK2_8023;RH93230;SHGC-18769;SHGC-18773;SHGC-18797;SHGC-23149;SHGC-50934;SHGC-50938;SHGC-81733;UniSTS:471822 DKK-2;hDkk-2 OTTHUMP00000161876;OTTHUMP00000219554;dickkopf 2;dickkopf 2 homolog;dickkopf homolog 2;dickkopf related protein-2;dickkopf-2;dickkopf-related protein 2 APPROVED protein-coding ENSG00000155011 HGNC:2892 05658 605415 REVIEWED 736704 DISC1 disrupted in schizophrenia 1 This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 q42.1 205027310 205445842 + 231762561 232177018 + 231626815 232041272 + 1580863;5509829;5509831;5509833;5509834;5509828;5509830;5509836;5509826;5509832;6480464;7240710;8554872 10814723;15386212;15657124;16959794;18317464;20227423;20505556;21222298;21569632 10945471;11443544;11468279;12477932;12506198;12573262;12812986;12874605;14532331;14623284;14702039;14962739;15094396;15121183;15184103;15342131;15478311;15728732;15797709;15838535;15939883;15940305;16039834;16054297;16056147;16103888;16209927;16243297;16275808;16293762;16389590;16510495;16524593;16710414;16736468;16814263;16843095;16936715;16936759;16997000;17006672;17035248;17043677;17055463;17117617;17185386;17286247;17579608;17673452;17823207;17912248;17997036;18075479;18078707;18164685;18180429;18198266;18270998;18395819;18400883;18469341;18474207;18497105;18583979;18620078;18762586;18800054;18818052;18955030;18983980;19046394;19077115;19086053;19118814;19188535;19191256;19251251;19255581;19300510;19303846;19304459;19328558;19352214;19367581;19414483;19451621;19455170;19502360;19548263;19583211;19586833;19632097;19693267;19782967;19805229;19913623;19944766;20048751;20084519;20168324;20212127;20339536;20351714;20360304;20379614;20398908;20531374;20531939;20574532;20602615;20628343;20666147;20691427;20850505;20880836;20956536;21041608;21079610;21091867;21149852;21256178;21298101;21315744;21358711;21368031;21376542;21445958;21471969;21483430;21483435;21605958;21642004;21659360;21739582;21853134;21878470;21998303;22015021;22095064;22099458;22099459;22291444;22337479;22363459;22385968;22422769;22434823;22472875;22516458;22547224;22558309;22659396;22693340;22801410;22815203;22832604;22869032;22901592;23011268;23140672;23233134;23253390;23347445;23379509;23389941;23481583;23497821;23581481;23602339;23637159;23832957;23921125;24013095;24092329;24722188;9455484 27185 B1AM64;C4P092;C4P093;C4P094;C4P096;C4P098;C4P0A4;C4P0A5;C4P0B0;C4P0C4;C4P0C8;C4P0D0;C4P0D1;C4P0D2;C4P0D3;H0Y7U2;Q5T409;Q9NRI5 AB007926;ABBA01033042;ABBA01033043;ABBA01033044;ABBA01033045;ABBA01033046;ABBA01033047;ABBA01033048;ABBA01033049;ABBA01033050;AF222980;AF222983;AF222987;AI075754;AJ506177;AJ506178;AK023443;AK025293;AK096457;AL049973;AL136171;AL161743;AL359543;AL445200;AL450284;AL626763;AL751364;AMYH02002893;AMYH02002894;AMYH02002895;AMYH02002896;AMYH02002897;AMYH02002898;BC038954;BC142622;BC151225;CH471098;FJ804174;FJ804175;FJ804176;FJ804177;FJ804178;FJ804179;FJ804180;FJ804181;FJ804182;FJ804183;FJ804184;FJ804185;FJ804186;FJ804187;FJ804188;FJ804189;FJ804190;FJ804191;FJ804192;FJ804193;FJ804194;FJ804195;FJ804196;FJ804197;FJ804198;FJ804199;FJ804200;FJ804201;FJ804202;FJ804203;FJ804204;FJ804205;FJ804206;FJ804207;FJ804208;FJ804209;FJ804210;FJ804211;FJ804212;FJ804213;FJ804214;FJ804215;FJ804216;KF455159;KF455161;KJ534822;NG_011681;NM_001012957;NM_001012958;NM_001012959;NM_001164537;NM_001164538;NM_001164539;NM_001164540;NM_001164541;NM_001164542;NM_001164544;NM_001164545;NM_001164546;NM_001164547;NM_001164548;NM_001164549;NM_001164550;NM_001164551;NM_001164552;NM_001164553;NM_001164554;NM_001164555;NM_001164556;NM_018662 AAF73874;AAF73877;AAF73889;AAI51226;ACR40040;ACR40041;ACR40042;ACR40043;ACR40044;ACR40045;ACR40046;ACR40047;ACR40048;ACR40049;ACR40050;ACR40051;ACR40052;ACR40053;ACR40054;ACR40055;ACR40056;ACR40057;ACR40058;ACR40059;ACR40060;ACR40061;ACR40062;ACR40063;ACR40064;ACR40065;ACR40066;ACR40067;ACR40068;ACR40069;ACR40070;ACR40071;ACR40072;ACR40073;ACR40074;ACR40075;ACR40076;ACR40077;ACR40078;ACR40079;ACR40080;ACR40081;ACR40082;AHW56462;BAA32302;CAD44628;CAD44631;EAW69966;EAW69967;NP_001012975;NP_001012976;NP_001012977;NP_001158009;NP_001158010;NP_001158011;NP_001158012;NP_001158013;NP_001158014;NP_001158016;NP_001158017;NP_001158018;NP_001158019;NP_001158020;NP_001158021;NP_001158022;NP_001158023;NP_001158024;NP_001158025;NP_001158026;NP_001158027;NP_001158028;NP_061132;Q9NRI5 Hs.13318 1338865;1341601;1647392;1690688;1692726;1693134;1694500;1715905;1722529;1730505;1739921;1748699;1757185;1781280;1781662;1788414;1850528;2125822;2132045;2138868;2152573;2174588;2183194;5037552;7184806 AL009602;AL009787;AL034131;AL034292;D1S1621;D1S1624;D1S2191;D1S2517;D1S2709;D1S3462;D3S587;D8S2279;G60191;G65049;RH121953;RH122687;RH93065;SGC32126;SHGC-110351;SHGC-144606;SHGC-154930;SHGC-76522;SHGC-76529;fb76e10.y1 C1orf136;FLJ13381;FLJ21640;FLJ25311;FLJ41105;KIAA0457;SCZD9 OTTHUMP00000035955;OTTHUMP00000035956;OTTHUMP00000035959;OTTHUMP00000035960;Putative uncharacterized protein C1orf136;disrupted in schizophrenia 1 protein APPROVED protein-coding ENSG00000162946 HGNC:2888 05553 181500;604906;605210 REVIEWED 1318528 DKK4 dickkopf WNT signaling pathway inhibitor 4 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008] 8 8 8 p11.2-p11.1 41176301 41179389 - 42231586 42234674 - 42374068 42377156 - 1580863;2301921;6480464;6907045;8554872 17143291 10570958;11701963;12477932;12527209;15340161;15489334;17553464;18408752;18461655;19059704;19453261;19562778;19659606;19773279;20650998;21341386;21994129;22216841;22249261;22740476;23108157;23516639;23958302 27121 B4DWN3;Q9UBT3 AB017788;AB018005;ABBA01021155;AC107885;AF177397;AK301609;AMYH02017893;BC107046;BC107047;BX105775;CH471080;FB300276;NM_014420 AAF02677;AAI07047;AAI07048;BAA33438;BAA33475;BAG63095;CAR82119;EAW63220;NP_055235;Q9UBT3 Hs.159311 DKK-4;MGC129562;MGC129563;hDkk-4 OTTHUMP00000226052;dickkopf-4;dickkopf-related protein 4 APPROVED protein-coding ENSG00000104371 HGNC:2894 05660 605417 REVIEWED 1346561 DKKL1P1 dickkopf-like 1 pseudogene 1 20 20 20 q11.21 26618123 26619029 + 29861856 29862762 + 31274053 31274959 + 128848 ABBA01019310;AL121723;AMYH02036892;NG_005524 DKKL2;dJ854E16.1 APPROVED pseudo HGNC:16593 INFERRED 1350645 DKKL1 dickkopf-like 1 The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 19 19 19 q13.33 46733898 46745228 + 49866466 49878373 + 49360503 49375116 + 1580863;6480464;8554872 10570958;12477932;12975309;15489334;17081983;17207965;17474147;19176879;21833088;21988832;22817830;23088713;24190897 27120 M0QYJ2;M0QZP1;M0R1E5;M0R1Q7;M0R2X7;Q9UK85 AB047818;ABBA01032931;AC010524;AF177398;AI879324;AMYH02036316;AY358922;BC030581;BI826695;BI826744;CH471177;FB300285;NM_001197301;NM_001197302;NM_014419;XM_005258742;XM_006723142;XM_006723143;XM_006723144;XM_006723145 AAF02678;AAH30581;AAQ89281;ADQ31988;BAB12400;CAR82122;EAW52475;NP_001184230;NP_001184231;NP_055234;Q9UK85;XP_005258799;XP_006723205;XP_006723206;XP_006723207;XP_006723208 Hs.515855 1658181 SHGC-56684 CT34;SGY;SGY-1;SGY1 cancer/testis antigen 34;dickkopf-like protein 1;soggy;soggy-1 APPROVED protein-coding ENSG00000104901 HGNC:16528 10396 605418 REVIEWED 735273 DLAT dihydrolipoamide S-acetyltransferase This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009] 11 11 11 q23.1 109048752 109088192 + 111895538 111935002 + 112024814 112064278 + 1580863;2313667;2307427;6480464;6907045;7240710;8554872;8699517 11795479;16923172 11978179;12395322;12477932;12676647;12816949;14638692;14702039;15120760;15861126;16049940;17068145;18206651;19185000;19240061;19542561;20180236;20361979;20452482;20673868;20800603;20877624;21139048;21145461;21628590;21988832;22079093;22586326;22939629;23000965;2317220;23543758;23798571;24147044;24816145;3036145;3174635;3191998;7273846;8102256;8125298;9649469 1737 E9PEJ4;E9PKC7;H0YDD4;P10515;Q86YI5 ABBA01039806;ABBA01039807;ABBA01039808;ABBA01039809;AF317200;AK057299;AK223596;AK296274;AK297103;AK299562;AK303930;AL832703;AMYH02025577;AMYH02025578;AMYH02025579;AMYH02025580;AMYH02025581;AP000907;AW188637;BC039084;CH471065;DB551427;EF444972;NG_013342;NM_001931;X13822;Y00978 AAG31658;AAH39084;ABM83373;ABM86584;ACA05975;BAD97316;BAG51900;BAG58983;BAG59614;BAG61505;BAG64858;CAA32052;CAA68787;EAW67174;EAW67175;NP_001922;P10515 Hs.335551 1855483;2108015;2127417;2142120;2161443;2180224 D11S3980;DLAT_8300;SHGC-30253;STS-AA025365;STS-Y00978;WI-14848 DLTA;PBC;PDC-E2;PDCE2 70 kDa mitochondrial autoantigen of primary biliary cirrhosis;E2 component of pyruvate dehydrogenase complex;M2 antigen complex 70 kDa subunit;OTTHUMP00000165200;OTTHUMP00000165201;OTTHUMP00000234435;dihydrolipoamide acetyltransferase;dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex;dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial;dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial;pyruvate dehydrogenase complex component E2 APPROVED protein-coding ENSG00000150768 HGNC:2896 10578 245348;608770 REVIEWED 7174887 DLEC1P1 deleted in lung and esophageal cancer 1 pseudogene 1 3 3 3 38302410 38306176 - 38366728 38370561 - 38325237 38329070 - 100421153 ABBA01024825;AMYH02006568;AP006193;NG_025566 pseudo HGNC:44545 INFERRED 1316435 DKK1 dickkopf WNT signaling pathway inhibitor 1 This gene encodes a protein that is a member of the dickkopf family. It is a secreted protein with two cysteine rich regions and is involved in embryonic development through its inhibition of the WNT signaling pathway. Elevated levels of DKK1 in bone marrow plasma and peripheral blood is associated with the presence of osteolytic bone lesions in patients with multiple myeloma. [provided by RefSeq, Jul 2008] 10 10 10 q11.2 47337087 47340463 + 54074041 54077417 + 52314281 52317657 + 1580863;2293188;2301921;6480464;6907380;6907384;6907383;6907045;6907379;6907382 17143291;17437412;18432252;20019166;20131282;21567076;21773994 10383463;10570958;10965128;11357136;11448771;11516963;11742004;11840333;12050670;12167704;12477932;12740383;12975309;14695408;15035989;15117970;15229249;15231748;15340161;15378020;15451431;15489334;15542433;15592430;15592505;15694380;15923613;16189514;16263759;16293576;16491118;16568085;16646053;16763196;16863544;16919965;17026960;17068150;17159916;17237793;17245340;17255354;17329407;17353931;17373700;17449905;17485441;17643814;17657240;17700537;17702698;17804805;17876334;17984176;17987039;18044981;18157634;18163421;18166153;18294945;18297060;18305214;18331598;18339843;18461655;18502762;18505732;18521528;18546262;18561248;18571836;18606139;18653765;18843784;18978943;19016584;19040566;19060904;19067746;19093005;19247449;19252761;19273195;19303159;19358268;19389391;19396460;19407319;19424619;19453261;19477926;19540374;19657367;19675559;19711349;19720407;19744316;19746449;19776352;19787627;19820386;19832854;19895917;19898734;19926868;19936252;19943155;19955106;19995224;20004015;20019092;20033851;20038269;20039407;20062063;20093360;20101398;20139903;20153141;20543981;20549706;20589421;20603237;20613589;20618428;20628624;20634891;20650998;20653953;20797317;20819596;20823417;20843343;20847303;20920327;20929859;20932948;20957670;21029453;21034532;21062498;21076409;21098705;21164019;21304055;21317455;21344486;21362762;21389688;21531794;21540552;21546446;21562161;21607803;21617850;21663914;21683813;21712726;21805521;21811562;21833531;21858178;21909757;21935273;21944272;21944579;21955977;21984209;21988832;22000856;22015605;22022386;22032557;22042700;22048647;22120987;22122879;22278426;22321022;22358062;22363428;22386696;22391424;22399772;22430125;22447857;22455953;22496615;22527202;22576962;22589387;22592030;22649545;22723594;22738799;22789636;22796372;22815877;22898215;22966878;22984994;23028464;23041840;23125289;23152495;23261982;23266194;23281130;23316316;23348703;23359112;23360788;23396252;23445914;23452984;23457386;23467116;23595579;23600832;23636253;23698475;23702386;23752183;23836157;23922913;24024966;24104453;24134157;24138842;24227537;24269823;24276456;24286177;24302746;24325363;24361889;24391982;24430505;24469828;24471564;24481601;24612589;24770633 22943 I1W660;O94907 AB020315;ABBA01052510;AC009986;AF127563;AF177394;AF261157;AF261158;AK314902;AMYH02023087;AY359005;BC001539;BU752259;BX952450;CH471083;CS403559;CS537949;FB300279;JA063311;JA177597;JA210593;JA210704;JN966744;NM_012242 AAD21087;AAF02674;AAG15544;AAH01539;AAQ89364;ABM83148;ABM86347;AFI61647;BAA34651;BAG37416;CAL40393;CAM84952;CAR82120;CCA61731;CCA64135;CCA64580;CCA64583;EAW54144;NP_036374;O94907 Hs.40499 1666951 RH78803 DKK-1;SK;hDkk-1 OTTHUMP00000019617;dickkopf 1 homolog;dickkopf related protein-1;dickkopf-1 like;dickkopf-like protein 1;dickkopf-related protein 1 APPROVED protein-coding ENSG00000107984 HGNC:2891 05544 605189 REVIEWED 1348290 DLD dihydrolipoamide dehydrogenase This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 7 7 7 q31-q32 102338571 102368626 + 107531586 107561643 + 107891141 107921198 + 1580863;2306878;2307427;6480464;6907045;7240710;7242560;8699517;8554872 10672230;11795479;20645850 11935326;12297006;12477932;12601813;12676647;12690205;1332063;14638692;15389771;15576032;15712224;15826505;15946682;16196087;16263718;16396496;16442803;16584639;17171578;17207965;17404228;17960497;18029348;19122664;19405953;19738201;1993704;20228799;2055113;20652410;20877624;21139048;21543315;2188967;21890473;21906983;21930696;21963094;22304920;22586326;22863883;22939629;22944692;23128233;23475850;24012808;24250222;24337577;24583282;24654937;24816145;25032271;3278312;3693355;6897145;7273846;8125298;8406489;8506365;8619544;9040023;9727038;9934985 1738 E9PEX6;F2Z2E3;F8WDM5;F8WDY5;P09622 AB209703;ABBA01057899;AC005046;AK225289;AK225301;AK294146;AK295080;AK297508;AK300077;AK310220;AK312346;AMYH02016521;BC018648;BC018696;BI562331;CH236947;CH471070;DC354209;J03490;J03620;L13761;M99384;NG_008045;NM_000108;NM_001289750;NM_001289751;NM_001289752 AAA35759;AAA35764;AAA59527;AAB01381;AAH18648;AAH18696;ADQ32070;BAD92940;BAG35267;BAG57472;BAG58122;BAG59921;BAG61881;EAL24389;EAW83421;EAW83422;NP_000099;NP_001276679;NP_001276680;NP_001276681;P09622 Hs.131711 1656025;1669448;1687764;1698700;1699738;1712234;1769234;1846733;2129457;2171452 D7S1572;D7S2064E;D7S2771;DLD;G54025;IB1079;RH102910;RH103475;RH80342;WIAF-2151 DLDD;DLDH;E3;GCSL;LAD;PHE3 E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex;OTTHUMP00000206744;OTTHUMP00000206746;OTTHUMP00000206748;OTTHUMP00000206749;diaphorase;dihydrolipoyl dehydrogenase, mitochondrial;glycine cleavage system L protein;glycine cleavage system protein L;lipoamide dehydrogenase;lipoamide reductase;lipoyl dehydrogenase APPROVED protein-coding ENSG00000091140 HGNC:2898 02006 238331;246900;248600;256000 REVIEWED 1353433 DKK3 dickkopf WNT signaling pathway inhibitor 3 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 11 11 11 p15.2 12109802 12156171 - 11984543 12031373 - 11962996 12009826 - 1580863;6480464 10570958;10652205;11814687;12477932;12527209;12844346;12857724;12975309;14702039;14767340;15087387;15226763;15340161;15489334;15516983;15998302;16568085;16609023;16712791;16713569;16751809;16981135;17347849;18033687;18048388;18059033;18247400;18443132;18461655;18654608;18826564;18922905;19003969;19051296;19192722;19279003;19437037;19453261;19457090;19493271;19496188;19562778;19570204;19859801;20050020;20379614;20514419;20532910;20616171;20627041;20666943;20811686;20978717;21042718;21042779;21323747;21572098;21796614;21796842;21835165;21879258;21932035;21987623;22071168;22076283;22274868;22421143;22473694;22529687;22555103;22589738;23006423;23154266;23354949;23529184;23538390;23702469;23765731;23934736;24309205;24325785;8125298;8619474;9070656;9110174 27122 E9PHY3;E9PKK9;E9PKW6;F6SYF8;Q9UBP4 AB033421;AB034203;AB035182;AB057591;AB057804;ABBA01061138;ABBA01061139;AC124276;AF052161;AF177396;AF400439;AK090952;AK092979;AK098756;AK225156;AK289897;AK295441;AK295539;AL535720;AMYH02024339;AY358378;AY587550;BC007660;BQ690088;BQ690888;CB156451;CH471064;H18461;NM_001018057;NM_013253;NM_015881;U32331;XM_006718177;XM_006718178;XM_006718179;XM_006718180 AAC35996;AAF02676;AAH07660;AAK92488;AAQ88744;AAS86757;ABM83832;ABM87156;BAA85488;BAA87044;BAA90548;BAB84360;BAB84361;BAC03555;BAF82586;BAG52632;BAG58381;BAG58448;EAW68533;EAW68534;EAW68535;EAW68536;EAW68537;EAW68538;EAW68539;NP_001018067;NP_037385;NP_056965;Q9UBP4;XP_006718240;XP_006718241;XP_006718242;XP_006718243 Hs.292156;Hs.731954 1647830;1665048;1775240;2111192;2140520;2140522;2151558;2151560 1794;A001W38;D11S1381E;D11S2261E;D11S2388;G19726;RH65665;T03598 REIC;RIG;dkk-3;hDkk-3 OTTHUMP00000230783;OTTHUMP00000230784;OTTHUMP00000230785;OTTHUMP00000230786;RIG-like 5-6;RIG-like 7-1;dickkopf 3;dickkopf 3 homolog;dickkopf homolog 3;dickkopf-3;dickkopf-related protein 3;regulated in glioma APPROVED protein-coding ENSG00000050165 HGNC:2893 05659 605416 REVIEWED 1348392 DLEU1 deleted in lymphocytic leukemia 1 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; hydrogen peroxide 13 13 13 q14.3 31711014 31734037 + 50656414 50679433 + 50082169 50528643 + 1580863;6480464;8554872 11161783;11406609;12477932;14702039;16169070;19260139;19347735;20190752;20351715;21833088;22190364;22424883;23593011;9395242 10301 O43261 ABBA01051034;ABBA01051035;ABBA01051036;ABBA01051037;ABBA01051038;AF328925;AF490255;AJ412023;AJ412024;AJ412025;AJ412026;AJ412027;AJ412028;AJ412029;AJ412030;AJ412031;AJ412032;AJ412033;AJ412034;AJ412035;AJ412036;AJ412037;AJ412038;AJ412039;AJ412041;AJ412042;AJ412043;AJ412044;AJ412045;AJ412046;AJ412047;AJ412048;AJ412049;AJ412050;AJ412051;AJ412052;AJ412053;AJ412054;AJ412055;AJ412056;AJ412057;AJ412058;AJ412059;AJ412060;AJ412061;AJ412062;AJ412063;AK095311;AK312167;AL137060;AL138696;AL157367;AL158195;AL161424;AMYH02028021;AMYH02028022;AMYH02028023;AMYH02028024;AMYH02028025;BC020692;CR450325;DB444728;NR_002605;NR_109973;NR_109974;Y15227;Y15381 Hs.591229;Hs.616702;Hs.616703;Hs.684516;Hs.712880 1686112;2115311;2217260;7183691 DLEU1_3110;RH74762;STS-N70598 BCMS;BCMS1;DLB1;DLEU2;LEU1;LEU2;LINC00021;MGC22430;NCRNA00021;XTP6 ncrna ENSG00000176124 HGNC:13747 16150 605765 VALIDATED 1350283 DLEU2 deleted in lymphocytic leukemia 2 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 8-bromo-3',5'-cyclic AMP 13 13 13 q14.3 31611408 31754280 - 50549491 50699680 - 49982552 50125541 - 1580863;6480464;8554872 11072235;11161783;11264177;11559527;12477932;14636997;15188451;16499869;19347735;19591824;20451256;23563607;23593011;23995789;9395242 8847 ABBA01051033;ABBA01051034;ABBA01051035;AF075100;AF264787;AF380424;AF529010;AL137060;AL391993;AMYH02028018;AMYH02028019;AMYH02028020;AMYH02028021;AMYH02028022;AY455757;BC006995;BC017819;BC022282;BC022349;BC026275;BC030971;BC033120;BC038090;BC055417;BC070292;KF455768;LN608475;LN608476;LN608479;NR_002612;Y15228;Y15381 Hs.547964 1654471;1654760;1671960;1684714;1686112;1690322;1740833;1847637;1851231;2107241;2115311;2135977;2135979;2137053;2153481;2162311;2167802;2171949;2217260;5014051;5017755;5019070;5021944;5022200;5024039;5037552;7183691 D13S1150;D13S1220;D13S1476;D16S325;D8S2278;D8S2279;DLEU1_3110;G44334;KCNRG__6503;L18426;Mirn16-1;RH44539;RH44787;RH45034;RH45599;RH47934;RH74762;RH74763;RH94230;SHGC-24128;SHGC-57506;STS-D29438;STS-N25204;STS-N70598;STS-T98557;TRIM13 1B4;BCMSUN;DLB2;LEU2;LINC00022;MGC88287;MIR15AHG;NCRNA00022;RFP2OS;TRIM13OS ncrna ENSG00000231607 HGNC:13748 16151 605766 PROVISIONAL 8699234 DLEU1-AS1 DLEU1 antisense RNA 1 q14.3 103689915 BM264234;DA176728;NR_125753 Hs.722230 LINC01308 ncrna HGNC:50496 VALIDATED 1604836 DLEC1 deleted in lung and esophageal cancer 1 This gene contains 37 exons, spans approximately 59-kb, and is located in the 3p22-p21.3 chromosomal segment that is commonly deleted in various carcinomas. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins. Aberrant transcription of this gene may be involved in carcinogenesis of the lung, esophagus, and kidney. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 38015107 38100029 + 38080497 38164228 + 38039006 38122737 + 7240710;8699517;8554872 10213508;12477932;16756719;17099870;18029348;18191269;18594535;19156137;19339270;20379614;20530412;20630829;20639048;20952247;21443130;22569009;23050586;8889548 9940 Q32W76;Q9Y238 AB020522;AB026898;AB425198;ABBA01024827;ABBA01024828;ABBA01024829;ABBA01024830;ABBA01024831;ABBA01024832;ABBA01024833;ABBA01024834;ABBA01024835;ABBA01024836;ABBA01024837;ABBA01024838;ABBA01024839;ABBA01024840;AC144536;AK302803;AL137282;AL137706;AMYH02006564;AP006309;AY789462;AY789463;AY789464;BC129824;BC129825;BC171799;BU680752;CH471055;FB571431;NG_023237;NM_007335;NM_007337;XM_005265630;XM_005265631;XM_006713437;XM_006713438;XM_006713439;XM_006713440;XM_006713441;XR_427301;XR_427302 AAI29825;AAI29826;AAI71799;AAI72408;AAX18633;AAX18634;AAX18635;BAA77247;BAA77624;BAG11659;BAG64005;CAB70676;CAB70884;CAR95133;EAW64508;EAW64509;EAW64510;EAW64511;EAW64512;NP_031361;NP_031363;Q9Y238;XP_005265687;XP_005265688;XP_006713500;XP_006713501;XP_006713502;XP_006713503;XP_006713504 Hs.714499 1712280;1741417;1759805;1768515;1784874;2106943;2136642;2141163;2185730;5109281 ACAA1_2845.2;D1S1425;D3S3932;D3S4185;G54049;GDB:181192;SHGC-170056;SHGC-172524;STS-X14813;WI-19140 CFAP81;DLC-1;DLC1;F56 OTTHUMP00000161720;cilia and flagella associated protein 81;deleted in lung and esophageal cancer 1 transcript varient 2;deleted in lung and esophageal cancer protein 1 APPROVED protein-coding ENSG00000008226 HGNC:2899 07234 133239;211980;604050 REVIEWED 68616 DLC1 DLC1 Rho GTPase activating protein This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010] 8 8 8 p22 11906167 12337728 - 12940870 13373167 - 13083361 13515658 - 1300391;1580863;6480464;7240710;8554872 10649492 10702663;10844022;11214970;12477932;12545165;12645648;12792785;12813468;12873722;14633684;14647417;14661059;14702039;15201975;15342556;16338927;16344560;16533763;16680376;16684779;16774933;16862168;16951145;17190795;17292327;17888903;17932950;17965626;17979893;18288400;18627284;18648664;18786931;18829524;18923442;18974116;18981889;19066281;19116449;19151751;19158340;19170769;19221866;19240061;19380190;19440389;19482022;19667410;19710422;19732724;19766077;19795399;19826001;19874489;19895840;19911011;19913121;20069572;20083228;20198346;20379614;20600027;20628086;20634475;20882354;20967756;20974048;21087603;21130076;21217778;21372205;21455586;21868344;21969587;22002576;22064653;22139079;22307599;22473989;22522847;22645138;22688191;22693251;22760257;22799310;23000965;23010077;23079702;23251661;23376848;23509688;23509962;23511482;23588806;23625658;23681804;23783552;23988121;24082123;24315451;24590291;8125298;9605766 10395 A8K119;E5RI70;Q96QB1;R4GMP5 AB051510;ABBA01021622;ABBA01021623;ABBA01021624;ABBA01021625;ABBA01021626;ABBA01021627;ABBA01021628;AC015641;AC019270;AC022844;AC106845;AF026219;AF035119;AF408768;AK023128;AK024773;AK025544;AK025733;AK225098;AK289734;AK291682;AK299049;AL117604;AMYH02017473;AMYH02017474;AMYH02017475;AMYH02017476;AMYH02017477;AMYH02017478;AMYH02017479;AMYH02017480;AMYH02017481;AMYH02017482;BC049842;BC054511;BC095415;BP284911;CB961755;CH471080;DA549448;DQ092382;DQ092383;DQ092384;KF458686;KF458687;NG_015998;NM_001164271;NM_006094;NM_024767;NM_182643;XM_005273374;XM_005273375 AAB81637;AAB87700;AAH49842;AAH54511;AAK97501;AAZ32940;AAZ32941;AAZ32942;ACE86794;ACE87481;BAB14996;BAB21814;BAF82423;BAF84371;BAG61122;EAW63851;EAW63852;EAW63853;EAW63854;EAW63855;NP_001157743;NP_006085;NP_079043;NP_872584;Q96QB1;XP_005273431;XP_005273432 Hs.134296 1335303;1340091;1341861;1659461;1667635;1670806;1700234;1705552;1706926;1720975;1723161;1728199;1733992;1740167;1755925;1779175;1795092;1847127;1853210;1856946;2116361;2117614;2128532;2128534;2150494;2155268;2185153;2190693;2190695;2190697;2218492;5492027 A001Y28;D8S1182;D8S13124;D8S13129;D8S13141;D8S1513;D8S1636;D8S1690;D8S1754;D8S1790;D9Mco7;DLC1__4743;G10585;G19789;G59317;G63522;PMC97615P1;RH103734;RH12088;RH12354;RH123765;RH69819;SHGC-142756;SHGC-31942;SHGC-57503;SHGC-57963;SHGC-80952;SHGC-83879;STS-N74419;WI-18560;WI-22147;WIAF-1709 ARHGAP7;FLJ21120;HP;STARD12;p122-RhoGAP OTTHUMP00000116050;OTTHUMP00000116051;OTTHUMP00000116052;OTTHUMP00000218771;OTTHUMP00000218772;OTTHUMP00000225457;Rho-GTPase-activating protein 7;START domain-containing protein 12;StAR-related lipid transfer (START) domain containing 12;deleted in liver cancer 1 protein;deleted in liver cancer 1 variant 2;rho GTPase-activating protein 7;rho-type GTPase-activating protein 7 2301749;2301750;2301751;2301752;2301753;2301754 PRSTS420_H;PRSTS421_H;PRSTS422_H;PRSTS423_H;PRSTS424_H;PRSTS425_H APPROVED protein-coding ENSG00000164741 HGNC:2897 05035 133239;211980;604258 REVIEWED 1605843 DLEU7 deleted in lymphocytic leukemia, 7 INTERACTS WITH lead diacetate (ortholog); progesterone (ortholog); valproic acid (ortholog) 13 13 13 q14.3 32335784 32466889 - 51286759 51417885 - 50712623 50843749 - 6480464 12477932;14702039;14706829;15489334;18391951;18391952;19266077;19343178;20400458;20546612;20881960;22424883;23449627;23563607;23704328 220107 Q6UYE1 ABBA01051039;ABBA01051040;AC007304;AK126830;AL137880;AMYH02028027;AY357590;AY357595;BC104892;BC112009;NM_198989;XM_005266286;XM_006719775 AAI04893;AAI12010;AAR11480;AAR11481;BAC86712;NP_945340;Q6UYE1;XP_005266343;XP_006719838 Hs.710878 1700280;1731665;1740839;1755721;1853780;2134894;2150268 D13S1469;D13S294;RH103758;RH44573;RH46162;SGC34837;SHGC-142569 FLJ44882;MGC138214 OTTHUMP00000218764;leukemia-associated protein 7 protein-coding HGNC:17567 16825 PROVISIONAL 2312699 DLG2AS DLG2 antisense RNA (non-protein coding) q14.1 13130513 100302690 AF525782 Hs.684095 DLG2-AS;PSZA11q14;SZ-1 miscrna HGNC:37132 1353599 DLEU2L deleted in lymphocytic leukemia 2-like INTERACTS WITH coumestrol; resveratrol; trans-resveratrol 1 1 1 p31.3 62304577 62306233 + 64014651 64016307 + 63548980 63550636 + 6480464 11072235 79469 ABBA01074569;AF254117;AL109925;AMYH02001155;NR_002771 Hs.659291 BCMSUNL pseudo HGNC:13225 PROVISIONAL 6481279 DLEU7-AS1 DLEU7 antisense RNA 1 13 13 51381991 51424041 + 50807855 50849905 + 23704328 100874074 ABBA01051040;ABBA01051041;AL137880;AMYH02028027;BC035769;HG505635;NR_046551 Hs.734030 RP11-233H19.2 APPROVED ncrna ENSG00000237152 HGNC:39966 VALIDATED 6770676 DLG1-AS1 DLG1 antisense RNA 1 3 3 3 195610431 195615922 + 197025118 197030622 + 197298247 197303751 + 12477932 100507086 ABBA01033765;AC092937;AMYH02008516;AW173272;BC039329;HG496619;NR_038289 Hs.636103 AC092937.2 APPROVED ncrna ENSG00000227375 HGNC:44154 VALIDATED 6481397 DLG3-AS1 DLG3 antisense RNA 1 X X q13.1 69672806 69675951 - 70452956 70455994 - 100873930 ABBA01067576;AL139398;AMYH02039658;BF511530;BX102208;NG_015849;NR_046586;NR_109801 Hs.571699 APPROVED ncrna ENSG00000231651 HGNC:40182 VALIDATED 7255097 DLG5-AS1 DLG5 antisense RNA 1 10 10 10 q22.3 72973167 72976180 + 79686570 79689583 + 77926812 77929825 + 14702039;8889548 100128292 ABBA01020226;AK094329;AL391421;AMYH02023386;BM981914;BU928573;NG_011484;NR_024585 Hs.547908 2144301 SHGC-57807 ncrna HGNC:45109 VALIDATED 731938 DLG2 discs, large homolog 2 (Drosophila) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008] 11 11 11 q14.1 80475660 82647628 - 83166055 85338314 - 83455012 85627270 - 728660;1580863;6480464;8554872 8755482 10197530;10234023;10648730;10725395;10844022;10862698;11095503;11122378;11134026;11274188;11572861;11771761;11997254;12067714;12070168;12351654;12421351;12445884;12477932;12713445;12890763;14702039;15024025;15304517;16192269;16192276;16344560;16637659;16640776;17052657;17506987;17903296;18464913;19086053;19118189;19389623;19570815;19736351;19807924;19931931;20054121;20379614;20398908;22359512;22544364;22745667;23201973;23251661;23519667;24324551;24722188;24816145;7477295;8625413;8889548;8922396;9182804;9278515;9581762;9677374;9753324;9786987;9806853 1740 A8MUT9;A8MVA8;B5MCC5;B7Z264;B7Z2T4;C9JFF9;E9PIJ9;E9PIW2;E9PN83;E9PPV7;E9PQT9;E9PRL2;E9PRX3;F8W750;H7C325;Q15700;Q6ZSU2 AB209252;ABBA01017336;ABBA01017337;ABBA01017338;ABBA01017339;ABBA01017340;ABBA01017341;ABBA01017342;ABBA01017343;ABBA01017344;ABBA01017345;ABBA01017346;ABBA01017347;ABBA01017348;ABBA01017349;ABBA01017350;ABBA01017351;ABBA01017352;ABBA01017353;ABBA01017354;ABBA01017355;AC023118;AK094585;AK125151;AK125152;AK126776;AK127150;AK294375;AK295094;AK295624;AK299778;AK299797;AMYH02025193;AMYH02025194;AMYH02025195;AMYH02025196;AMYH02025197;AMYH02025198;AMYH02025199;AMYH02025200;AMYH02025201;AMYH02025202;AMYH02025203;AMYH02025204;AMYH02025205;AMYH02025206;AMYH02025207;AMYH02025208;AMYH02025209;AMYH02025210;AMYH02025211;AMYH02025212;AMYH02025213;AMYH02025214;AMYH02025215;AMYH02025216;AMYH02025217;AMYH02025218;AP000639;AP000642;AP000773;AP000852;AP000857;AP001791;AP001825;AP001984;AP002370;AP002751;AP002797;AP002803;AP002878;AP003026;AP003035;AP003093;AP003095;AP003305;BC104969;BC110844;BC143964;BM678399;BX537627;BX648386;CH471076;CR749820;CR933674;DA778233;DC303204;KC877445;KC877447;KC877450;KC877451;KF455428;KF455429;KF510384;KJ535093;NG_021375;NM_001142699;NM_001142700;NM_001142702;NM_001206769;NM_001300983;NM_001364;U32376;XM_005273805;XM_005273806;XM_005273807;XM_005273809;XM_005273810;XM_005273811;XM_006718438;XM_006718439;XM_006718440 AAB04949;AAI56217;AAI72464;AHW56732;BAC86064;BAC86065;BAC86685;BAC86854;BAD92489;BAH11750;BAH11970;BAH12131;BAH13126;BAH13132;CAH18680;CAI45970;EAW75093;EAW75094;EAW75095;NP_001136171;NP_001136172;NP_001136174;NP_001193698;NP_001287912;NP_001355;Q15700;XP_005273862;XP_005273863;XP_005273864;XP_005273866;XP_005273867;XP_005273868;XP_006718501;XP_006718502;XP_006718503 Hs.367656 1337723;1338301;1340308;1340393;1340438;1643733;1648019;1660410;1661008;1664359;1666602;1703618;1704004;1705762;1707094;1707922;1709604;1714655;1714881;1719985;1720857;1732279;1732281;1736178;1737007;1737293;1737865;1747971;1748701;1749143;1755087;1760033;1766223;1769956;1772238;1773956;1774771;1776830;1782314;1782332;1788778;2113980;2116854;2120166;2120420;2124002;2130201;2144043;2162038;2168200;2168945;2182427;2184016;5020028;5111899;5124464;5493671;7186283;7186812 A008Z32;AB047600;D11S1050;D11S1065;D11S1178;D11S1198;D11S1274E;D11S1306;D11S1354;D11S1775;D11S1795;D11S1830;D11S1831;D11S2286E;D11S2448;D11S2632;D11S2753;D11S3157;D11S3466;D11S4135;D11S4147;D11S4391;D11S4576;D11S4634;G09682;G31484;G42651;G59256;G66814;RH119992;RH120435;RH123970;RH133947;RH36297;RH77937;RH78506;RH92118;SGC36948;SHGC-110352;SHGC-110815;SHGC-111342;SHGC-142019;SHGC-142578;SHGC-144038;SHGC-149583;SHGC-35661;SHGC-77789;SHGC-78710;SHGC-81306;SHGC-82213;SHGC-82830;SHGC-83478;SHGC-85163;STS-U32376;UniSTS:490161;WI-13599;WI-15537 DKFZp781D1854;DKFZp781E0954;FLJ37266;MGC131811;PPP1R58;PSD-93;PSD93;chapsyn-110 OTTHUMP00000165969;OTTHUMP00000165971;OTTHUMP00000165976;OTTHUMP00000165978;OTTHUMP00000235334;OTTHUMP00000235335;OTTHUMP00000235336;OTTHUMP00000235337;OTTHUMP00000235338;channel-associated protein of synapse-110;channel-associated protein of synapses, 110kDa;discs large 2;discs, large (drosophila) homolog 2 (chapsyn-110);discs, large homolog 2, chapsyn-110;discs, large homolog 2, chapsyn-110 (Drosophila);disks large homolog 2;postsynaptic density protein PSD-93;protein phosphatase 1, regulatory subunit 58 APPROVED protein-coding ENSG00000150672 HGNC:2901 04663;08220 603583 REVIEWED 68628 DLG3 discs, large homolog 3 (Drosophila) This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked mental retardation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009] X X X q13.1 70018031 70078673 + 69664705 69725343 + 70444855 70505493 + 727734;1300392;1580863;6480464;7240710;8699517;8554872 15185169;9598320 10026200;10373412;10542258;10574462;10595517;10725395;10862698;10958799;11134026;11274188;11572861;11937501;11997254;12070168;12175853;12351654;12477932;12576483;12713445;12738960;15024025;15146197;16192271;16482544;16637659;17353931;18029348;19086053;19118189;19167192;19322201;19342380;19389623;19795139;19913121;20628086;21139048;21252287;21369957;21384559;21890473;21906983;22745667;22745750;23103165;23824909;24381070;24816145;8702950;8780649;8889548;9115257;9188857;9278515;9581761;9753324;9808460 1741 Q59FY1;Q5JUW8;Q92796 AB033058;AB209328;ABBA01067573;ABBA01067574;ABBA01067575;ABBA01067576;ABBA01067577;ABBA01067578;ABBA01067579;AK303377;AK304020;AK315041;AK316518;AL139109;AL139398;AMYH02039658;AMYH02039659;BC093864;BC093866;CH471132;CK300381;CN357435;NG_015849;NM_001166278;NM_020730;NM_021120;U49089;XM_005262248;XM_006724625;XM_006724626;XM_006724627;XR_430518 AAB61453;AAH93864;AAH93866;BAA86546;BAD92565;BAG64433;BAG64935;BAH14889;EAX05333;EAX05334;EAX05335;EAX05336;EAX05337;EAX05338;NP_001159750;NP_065781;NP_066943;Q92796;XP_005262305;XP_006724688;XP_006724689;XP_006724690 Hs.721586 1334830;1660902;1733980;1855553;2107017;2125357;2128359 DLG3_4190;DXS348;DXS7496;DXS8107;RH36026;SGC30680;SGC33537 KIAA1232;MRX;MRX90;NE-Dlg;NEDLG;PPP1R82;SAP-102;SAP102;XLMR OTTHUMP00000023475;OTTHUMP00000023476;OTTHUMP00000023477;discs, large homolog 3 (neuroendocrine-dlg, Drosophila);disks large homolog 3;neuroendocrine-DLG;synapse-associated protein 102 APPROVED protein-coding ENSG00000082458 HGNC:2902 02177 300189;300850 REVIEWED 68630 DLG4 discs, large homolog 4 (Drosophila) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7117875 7148003 - 7093209 7123369 - 7189890 7220050 - 1300301;1580863;2306834;6480464;5147998;6907045;7257680;8554872 11226670;15037549;15703272;20531396 10026200;10207009;10336672;10341223;10364559;10373510;10433268;10488080;10521598;10527873;10595517;10627592;10648730;10725395;10827173;10839362;10844022;10859302;10939335;10958799;10995758;11029657;11060025;11134026;11140673;11152698;11222640;11274188;11276111;11279080;11279111;11319238;11368788;11440998;11483650;11502259;11506858;11526121;11572861;11679592;11714708;11723117;11744724;11805122;11925566;11937501;11997254;12006486;12067714;12068077;12097473;12151521;12359873;12390249;12419528;12435606;12477932;12531901;12576483;12586822;12597860;12609736;12675619;12682061;12713445;12738960;12815021;12860415;12950712;14622581;14732708;14760703;14960569;15024025;15030493;15317815;15458844;15494726;15496675;15603740;15673434;15978582;16316992;16332682;16466689;16473877;16530958;16637659;16767099;16828986;16964398;16990550;16990791;16990796;17018285;17093888;17121805;17164261;17360663;17474147;17474715;17506933;17672918;17854350;17916412;18067320;18155796;18308477;18311135;18424056;18570704;19017653;19036954;19118189;19274064;19322201;19483657;19726651;19774677;19913121;19914352;20201926;20628086;20921115;21145461;21151988;21670103;21726550;21756874;21849550;21965656;22001757;22479202;22673509;22709448;22745667;22807451;22809504;22843680;23260144;23394112;23691031;23782696;23921260;23936182;24097068;7477295;7569905;8601796;8615909;8625413;8665664;8755482;8938729;9009191;9024696;9115257;9148889;9182804;9278515;9286702;9286858;9326658;9430700;9459447;9481670;9482110;9502803;9581761;9581762;9756850;9786987;9808460;9853749;9870942;9892651 1742 B7Z647;B9EGL1;C9JWP9;C9JYG3;K7EKP9;K7EKU8;K7EQM6;O14909;P78352 AA954439;ABBA01054852;ABBA01054853;ABBA01054854;AC120057;AF028825;AF156495;AK293835;AK296357;AK297346;AK299801;AK307804;AK308533;AK316096;AMYH02032891;AMYH02032892;AMYH02032893;AMYH02032894;BC030203;BC040533;BC136553;BC144237;CH471108;NG_008391;NM_001128827;NM_001365;U68138;U83192;XM_005256489;XM_005256491;XM_005256492;XM_005256493;XM_005256494;XR_243545 AAB07736;AAB84250;AAC52113;AAD56173;AAH40533;AAI36554;BAH11607;BAH12328;BAH12558;BAH13133;BAH14467;EAW90251;EAW90252;EAW90253;EAW90254;EAW90255;NP_001122299;NP_001356;P78352;XP_005256546;XP_005256548;XP_005256549;XP_005256550;XP_005256551 Hs.463928 2219078 DLG4_4191 FLJ97752;FLJ98574;PSD95;SAP-90;SAP90 OTTHUMP00000166066;OTTHUMP00000166067;OTTHUMP00000166068;Tax interaction protein 15;discs large homolog 4;disks large homolog 4;post-synaptic density protein 95;postsynaptic density protein 95;synapse-associated protein 90 APPROVED protein-coding ENSG00000132535 HGNC:2903 04199 602887 REVIEWED 1318707 DLG5 discs, large homolog 5 (Drosophila) This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] 10 10 10 q23 72837188 72972945 - 79550549 79686348 - 77790791 77926590 - 1580863;6480464 10903836;11876824;12353226;12477932;12657639;14702039;15107852;15164054;15489334;15665285;15841097;15843420;15930978;15952887;15955786;16169070;16192281;16196087;16344053;16385451;16391570;16437728;16446977;16450402;16493449;16494592;16534418;16670523;16670524;16773680;16944184;17081983;17100974;17156146;17307543;17451203;17455201;17476680;17544013;17693570;18335190;18338763;18397186;18433468;18466472;18559397;18715515;18804983;18824555;19422935;19423540;20037206;20379614;20406964;20438785;20796250;20886065;21139048;21145461;21674725;21890473;22001757;22065243;22118696;23000965;23251661;23624079;25036637;9628581;9738934 9231 Q8TDM6;R4GMQ2 AB011155;AB091676;ABBA01020229;AF352033;AK055172;AK055265;AK122931;AK314771;AL391421;AL450306;AMYH02023384;AMYH02023385;AMYH02023386;BC002915;BC013378;BC015053;BC030250;BC051757;BC073996;BC086867;BC117695;BC146794;BX649131;CH471083;HI179136;NG_011484;NM_004747;U61843;XM_005270276;XM_006718055;XM_006718056;XM_006718057;XM_006725120;XM_006725121;XM_006725122;XM_006725123 AAC61295;AAH73996;AAI17696;AAI46795;AAL83937;BAA25509;BAC65420;BAG37308;CBX53876;EAW54609;EAW54610;EAW54611;EAW54612;NP_004738;Q8TDM6;XP_005270333;XP_006718118;XP_006718119;XP_006718120;XP_006725183;XP_006725184;XP_006725185;XP_006725186 Hs.652690 1656041;1726763;1731014;1731016;1790269;2144301;2145676;2164177;5020938;5037552;5090906 A001X23;D10S1342E;D10S368;D10S423;D8S2279;G07285;G19749;G62769;KS619;RH44838;SHGC-57807 KIAA0583;LP-DLG;P-DLG5;PDLG OTTHUMP00000019917;OTTHUMP00000019918;discs large protein LP-DLG;discs large protein P-dlg;disks large homolog 5;large type of P-DLG;placenta and prostate DLG APPROVED protein-coding ENSG00000151208 HGNC:2904 04972 604090 REVIEWED 734098 DLGAP1 discs, large (Drosophila) homolog-associated protein 1 INVOLVED IN cell-cell signaling (inferred); PARTICIPATES IN glutamate signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); neuronal postsynaptic density (inferred); postsynaptic membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; calcitriol 18 18 18 p11.31 3378465 3763880 - 3496030 4455310 - 3496032 4455310 - 728740;1580863;6480464;6907045;8554872 9024696 10521485;10527873;10844022;11060025;11122378;11148209;12477932;12954649;14702039;15345747;15673434;15729360;17474147;18187620;19913121;20237496;20352094;20379614;20628086;20936779;21041448;21070662;22558309;22566634;22889921;22911880;22940546;23247143;23251661;24156266;24324551;9115257;9221768;9286858;9694864;9756850 9229 A8MXQ8;A8MYR7;B7Z2J5;O14490 AB000276;AB000277;ABBA01049851;ABBA01049852;ABBA01049853;ABBA01049854;ABBA01049855;ABBA01049856;ABBA01049857;ABBA01049858;ABBA01049859;ABBA01049860;ABBA01049861;ABBA01049862;ABBA01049863;ABBA01049864;ABBA01049865;ABBA01049866;ABBA01049867;ABBA01049868;ABBA01049869;ABBA01049870;ABBA01049871;ABBA01049872;AK095761;AK294717;AK294747;AK294777;AK299880;AK304101;AK316099;AMYH02034227;AMYH02034228;AMYH02034229;AMYH02034230;AMYH02034231;AMYH02034232;AMYH02034233;AMYH02034234;AMYH02034235;AMYH02034236;AMYH02034237;AP002472;AP002478;AP005130;AP005204;AP005208;AP005241;AP005403;AP006220;BC040718;BC070175;BC136453;BC136454;CH471113;CR743383;KF510440;KF510441;NM_001003809;NM_001242761;NM_001242762;NM_001242763;NM_001242764;NM_001242765;NM_001242766;NM_004746;U67988;XM_005258171;XM_005258172;XM_005258173;XM_005258174;XM_005258175;XM_005258176;XM_006722367 AAC51119;AAH70175;AAI36454;AAI36455;BAA23257;BAA23258;BAH11858;BAH11868;BAH11881;BAH13160;BAH14105;BAH14470;EAX01652;EAX01653;EAX01654;EAX01655;EAX01656;EAX01657;EAX01658;EAX01659;NP_001003809;NP_001229690;NP_001229691;NP_001229692;NP_001229693;NP_001229694;NP_001229695;NP_004737;O14490;XP_005258228;XP_005258229;XP_005258230;XP_005258231;XP_005258232;XP_005258233;XP_006722430 Hs.594640;Hs.654793 1335869;1337527;1339646;1643981;1661924;1671839;1675307;1682654;1713763;1725481;1775947;1777618;1849272;2141309;2169407;7185275;7187843 D18S1050;D18S1138;D18S378;D18S459;D18S54;RH119137;RH120768;RH16210;RH94333;SGC35853;SHGC-32291;STS-H99079;STS-W89128;WI-11618;WI-14719 DAP-1;DAP-1-ALPHA;DAP-1-BETA;DAP1;DLGAP1A;DLGAP1B;FLJ38442;GKAP;MGC88156;SAPAP1;hGKAP OTTHUMP00000162272;OTTHUMP00000174374;OTTHUMP00000174375;OTTHUMP00000174376;OTTHUMP00000174377;OTTHUMP00000174378;PSD-95/SAP90 binding protein 1;PSD-95/SAP90-binding protein 1;SAP90/PSD-95-associated protein 1;disks large-associated protein 1;guanylate kinase-associated protein protein-coding ENSG00000170579 HGNC:2905 09260 605445 VALIDATED 6893058 DLGAP1-AS1 DLGAP1 antisense RNA 1 INTERACTS WITH paracetamol 18 18 18 p11.31 3473726 3476991 + 3594112 3597377 + 3594114 3597379 + 6480464 12477932;14702039 649446 ABBA01049858;AI275162;AK093095;AMYH02034227;AP002478;BC137437;HG509665;NR_024101 BAC04052 Hs.19872 2169407;5015881 GDB:335751;WI-11618 HsT914;RP11-874J12.2 ncrna HGNC:31676 VALIDATED 731903 DLG1 discs, large homolog 1 (Drosophila) This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene, but the full-length nature of some of the variants is not known. [provided by RefSeq, Feb 2011] 3 3 3 q29 195354807 195610760 - 196769431 197026171 - 197042560 197298631 - 1580863;2306812;2306813;2306834;6480464;6484113;6907045;7240705;8554872 14871824;15221964;15703272;22717267 10336672;10595517;10619846;10646847;10656683;10779557;10859302;10939335;10993877;11060025;11134026;11140673;11181181;11274188;11279111;11440998;11567040;11572861;11602598;11723125;11726633;11997254;12050163;12067714;12070168;12081647;12097473;12151521;12175853;12189141;12351654;12419826;12477932;12507520;12511555;12668732;12713445;12763866;12766944;12807908;12857860;12860415;12902344;12933808;12970345;14699157;14960569;15021905;15024025;15286176;15302935;15485825;15673434;15699074;15729360;16228013;16316992;16466689;16473877;16482544;16619250;16637659;16825666;17069616;17172448;17237226;17332497;17574238;17696365;17713926;17980554;18245566;18311135;18461433;18665322;18725271;18760273;18793635;18930083;18946087;19017653;19066288;19086053;19118189;19213956;19307009;19586902;19615732;19841189;20201926;20356847;20379614;20398908;20551903;20605917;20643107;20691406;20702775;20980075;21041448;21113079;21139048;21164104;21489588;21595829;21615688;21762802;21849460;21850710;21858148;21890473;21906983;21963094;22004035;22027822;22185284;22225629;22272285;22307621;22377151;22378744;22383878;22434720;22657348;22745667;22792261;23000965;23532850;23576434;23624197;23782696;23864692;24324269;24816145;24989932;5024025;7477295;7937897;8601796;8825652;8889548;8922391;8938729;9024696;9115257;9148889;9192623;9286858;9341123;9512503;9677374;9756850;9786987;9808460 1739 A8MUT6;B4DF78;B4E2H8;C9IYP1;C9J110;C9JCP6;C9JN61;C9JUA9;E7EQD7;F2Z2L0;H7C166;Q12959 AA837080;AB209536;ABBA01033762;ABBA01033763;ABBA01033764;ABBA01033765;AC068302;AC092937;AI223994;AK293967;AK294772;AK294855;AK304280;AK310596;AK310893;AK311129;AL121981;AL831922;AMYH02008507;AMYH02008508;AMYH02008509;AMYH02008510;AMYH02008511;AMYH02008512;AMYH02008513;AMYH02008514;AMYH02008515;AMYH02008516;BC015560;BC028486;BC042118;BC140841;BC144651;BM728664;CH471191;EF553524;NG_029099;NM_001098424;NM_001204386;NM_001204387;NM_001204388;NM_001290983;NM_004087;U13896;U13897;XM_005269289;XM_005269290;XM_005269291;XM_005269292;XM_005269297;XM_005269298;XM_005269299;XM_005269301;XM_006713520;XM_006713521;XR_246039 AAA50598;AAA50599;AAH15560;AAI40842;AAI44652;ABQ66269;BAD92773;BAG57339;BAG57902;BAG57959;BAG65140;CAD38582;EAW53610;EAW53611;EAW53612;EAW53613;EAW53614;NP_001091894;NP_001191315;NP_001191316;NP_001191317;NP_001277912;NP_004078;Q12959;XP_005269346;XP_005269347;XP_005269348;XP_005269349;XP_005269354;XP_005269355;XP_005269356;XP_005269358;XP_006713583;XP_006713584 Hs.292549 1298243;1340111;1651793;1655065;1666007;1681330;1682333;1695936;1697024;1710186;1725735;1776809;1849177;2119753;2127617;2128572;2133171;2138747;5014023;5019801;5106313;7185467;7188007 A009W05;D13S1553;D3S1272;D3S1311;D3S2855E;D3S3326;D3S4117;G30445;G32903;G62059;RH101988;RH12686;RH46943;RH76431;RH93848;SHGC-64259;SHGC-77698;SHGC-77702;SHGC-78890;SHGC-82362;STS-R83329 DKFZp761P0818;DKFZp781B0426;DLGH1;SAP-97;SAP97;dJ1061C18.1.1;hdlg OTTHUMP00000151188;OTTHUMP00000165199;OTTHUMP00000165202;OTTHUMP00000165203;OTTHUMP00000165212;OTTHUMP00000165213;OTTHUMP00000208071;OTTHUMP00000208072;OTTHUMP00000208076;discs large homolog 1;disks large homolog 1;presynaptic protein SAP97;synapse-associated protein 97 APPROVED protein-coding ENSG00000075711 HGNC:2900 03007 601014 REVIEWED 6893047 DLGAP1-AS2 DLGAP1 antisense RNA 2 18 18 p11.31 3484313 3488981 + 3603649 3608319 + 12477932;14702039;21832049 84777 AK091102;AK312196;AP002478;BC005130;BC094703;BG830620;NR_119377;XR_109464;XR_111762;XR_172234 BAG35129 Hs.659053;Hs.729893 1777618;5022651 D11S2921;STS-H99079 ncrna HGNC:28146 VALIDATED 1345358 DLGAP2 discs, large (Drosophila) homolog-associated protein 2 The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014] 8 8 8 p23 1394347 1599502 + 877021 1656642 + 927021 1708476 + 1580863;6480464;8554872 10521485;10527873;10759891;10824095;10854099;11368788;11700307;12477932;14508709;15030493;17474147;18055845;19736351;19913121;20379614;20531469;20628086;23154099;23599027;24416398;24722188;9115257;9221768;9286858;9314494;9694864 9228 H0YBY6;Q9P1A6 AA443942;AA444121;AB000275;ABBA01016740;ABBA01016741;ABBA01016742;ABBA01016743;AC005010;AC026950;AC110288;AC120035;AC126333;AC129915;AF009204;AF067845;AF119817;AF119818;AF181898;AF188030;AMYH02017224;AMYH02017225;AMYH02017226;AW195368;BC141862;CH471181;KC877183;KC877185;KC877190;KC877191;KC877196;KC877200;KF458661;KJ534823;NG_009409;NM_001277161;NM_004745;XM_005266038 AAB71661;AAF34344;AAF34345;AAI41863;AHW56463;BAA23256;EAW51474;EAW51475;NP_001264090;NP_004736;Q9P1A6;XP_005266095 Hs.113287 1760451;1786836;1857522;2122443;2132023;2132025;2133824;2134860;2153420;2165711;2217262 A004F35;AF009207;AF009208;AF009212;D15S792;D8S2129;DLGAP2_3498;RH11661;SHGC-142939;SHGC-172453;SHGC-2740 DAP2;SAPAP2 OTTHUMP00000224434;OTTHUMP00000224435;PSD-95/SAP90-binding protein 2;SAP90/PSD-95-associated protein 2;discs large-associated protein 2;disks large-associated protein 2 APPROVED protein-coding ENSG00000198010 HGNC:2906 09258 605438 REVIEWED 7243074 DLGAP1-AS4 DLGAP1 antisense RNA 4 18 18 p11.31 3962353 4014094 + 3962353 4013943 + 101410534 ABBA01049866;ABBA01049867;AMYH02034233;AP005241;BI755422;CK005798;HG509674;NR_102696;R18342 Hs.141055 RP11-502P1.2 ncrna ENSG00000263878 HGNC:44333 VALIDATED 6892999 DLGAP1-AS3 DLGAP1 antisense RNA 3 ASSOCIATED WITH Melanoma (inferred) 18 18 p11.31 3878180 3897069 + 3878180 3897069 + 8554872 12477932;23251661 201477 ABBA01049865;ABBA01049866;AMYH02034233;AP005204;BC039546;HG509672;NR_038895 Hs.627208 RP11-340P19.1 ncrna ENSG00000263724 HGNC:27317 VALIDATED 6892994 DLGAP1-AS5 DLGAP1 antisense RNA 5 ASSOCIATED WITH Lung Neoplasms (inferred) 18 18 18 p11.31 4148570 4179974 + 4264602 4296000 + 4264602 4296000 + 8554872 14702039;16344560 284215 ABBA01049868;ABBA01049869;AK098180;AMYH02034234;AP005208;AP006220;DA301744;HG509677;HG509678;NR_036489 Hs.647594 RP11-138C24.1 ncrna ENSG00000261520 HGNC:27586 VALIDATED 8655216 DLGAP2-AS1 DLGAP2 antisense RNA 1 8 8 8 1497328 1515244 - 1513675 1570583 - 1565509 1621664 - 14702039 100507435 ABBA01016740;ABBA01016741;ABBA01016742;AC005010;AC126333;AF181898;AF188030;AK093412;AMYH02017225;AW303348;HG500803;HG500804;NR_103863 Hs.667133 ncrna ENSG00000253267 HGNC:50467 VALIDATED 1322602 DLGAP5 discs, large (Drosophila) homolog-associated protein 5 ENCODES a protein that exhibits phosphoprotein phosphatase activity; INVOLVED IN dephosphorylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; microtubule organizing center; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-chloro-2,4-dinitrobenzene; 17beta-estradiol 14 14 14 q22.3 35664327 35707885 - 55614834 55658396 - 55148116 55191678 - 1580863;6480464;8554872 11543626;12477932;12527899;12902344;14729942;15145941;15302935;15340842;15489334;15987997;16189514;16341674;16565220;16769820;16964243;17081983;17322106;18321990;19139432;19471022;21139048;21832049;21924616;22022601;22048964;22230478;22939629;23056639;23610398;24183881;24324629;24349376;24375315;24816145;7584026;7584028;9179496 9787 G3V4E5;G3V543;Q15398 AB076695;ABBA01018201;ABBA01018202;ABBA01018203;AI174844;AK291847;AK297480;AK299338;AL139316;AMYH02029232;BC010658;BC016276;BM788630;BT007344;BX248255;CH471061;D13633;DB448424;DB451654;HC250953;HC311142;NM_001146015;NM_014750 AAH10658;AAH16276;AAP36008;BAA02797;BAB97376;BAF84536;BAG59901;BAG61340;CAD62583;CBJ05774;CBJ21226;EAW80662;EAW80663;EAW80664;NP_001139487;NP_055565;Q15398 Hs.77695 1646485;2108017;2120660 D14S1183;DLG7_7956;G36257 DAP-5;DLG7;HURP;KIAA0008 Drosophila discs large-1 tumor suppressor-like;OTTHUMP00000179006;OTTHUMP00000179007;discs large homolog 7;discs, large homolog 7;disks large-associated protein 5;disks large-associated protein DLG7;hepatoma up-regulated protein protein-coding ENSG00000126787 HGNC:16864 06490 VALIDATED 9068581 DLGAP4-AS1 DLGAP4 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 20 20 35153641 35201794 - 36507702 36573275 - 8554872 101926987 ABBA01006573;ABBA01006574;ABBA01006575;ABBA01006576;ABBA01006577;ABBA01006578;AL050318;AMYH02037024;AMYH02037025;BC039668;HG511346;HG511348;NR_109939 Hs.647444 ncrna ENSG00000232907 HGNC:51223 VALIDATED 1319320 DLK2 delta-like 2 homolog (Drosophila) ENCODES a protein that exhibits calcium ion binding (inferred); protein heterodimerization activity (inferred); protein homodimerization activity (inferred); INVOLVED IN negative regulation of Notch signaling pathway (inferred); regulation of fat cell differentiation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 6 6 6 p21.1 44969675 44975371 - 43418090 43423786 - 43450352 43456632 - 6480464 12477932;12975309;14574404;14702039;15489334;16189514;16344560;17320102;21832049 65989 H0Y5P1;Q5T3T9;Q5T3U0;Q6UY11 ABBA01050682;ABBA01050683;AK055380;AL359813;AMYH02013646;AMYH02013647;AMYH02013648;AY358126;BC000230;BC006425;BC110320;BI916137;BM811564;CH471081;CQ848428;DA332624;HY064089;NM_001286655;NM_001286656;NM_023932;NM_206539;XM_005249308 AAH00230;AAH06425;AAI10321;AAQ88493;BAG51509;CAH18056;EAX04186;EAX04187;EAX04188;EAX04189;EAX04190;EAX04191;NP_001273584;NP_001273585;NP_076421;NP_996262;Q6UY11;XP_005249365 Hs.337251 1797244 ABCC10_2608 DLK-2;EGFL9;MGC111055;MGC2487 EGF-like protein 9;EGF-like-domain, multiple 9;OTTHUMP00000016447;OTTHUMP00000016449;OTTHUMP00000016450;OTTHUMP00000016451;epidermal growth factor-like protein 9;protein delta homolog 2 protein-coding ENSG00000171462 HGNC:21113 16855 VALIDATED 1347439 DLGAP3 discs, large (Drosophila) homolog-associated protein 3 ENCODES a protein that exhibits beta-amyloid binding (inferred); INVOLVED IN cell-cell signaling (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); postsynaptic membrane (inferred); INTERACTS WITH aflatoxin B1; 3,4-methylenedioxymethamphetamine (ortholog); ammonium chloride (ortholog) 1 1 1 p35.3-p34.1 33604622 33644572 - 35331037 35391083 - 34865436 34925482 - 1580863;6480464;8554872 10527873;12477932;16202977;17474147;19051237;19096451;21145461;21184590;21295225;21990008;22761992;23414653;8619474;9110174;9115257 58512 O95886 ABBA01023361;AC114490;AF131778;AK294907;AL122010;AMYH02000749;AMYH02000750;BC114369;BC114370;NM_001080418;XM_005271091 AAD20042;AAI14370;AAI14371;BAG57994;NP_001073887;O95886;XP_005271148 Hs.733945 DAP-3;DAP3;SAPAP3 OTTHUMP00000004180;PSD-95/SAP90-binding protein 3;SAP90/PSD 95 associated protein 3;SAP90/PSD-95-associated protein 3;disks large-associated protein 3 protein-coding ENSG00000116544 HGNC:30368 611413 VALIDATED 2793690 DLGAP5P1 discs, large (Drosophila) homolog-associated protein 5 pseudogene 1 X Y Y p11.2 92818226 92819459 + 6026839 6027874 + 6158798 6159833 + 12815422;9847074 360014 AC010140;NG_002932 pseudo HGNC:23945 INFERRED 1320241 DLL4 delta-like 4 (Drosophila) This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008] 15 15 15 q14 17989410 17999137 + 41221531 41231258 + 40929333 40939060 + 1580863;2302204;6480464;6484113;6907045 17761886 10837024;11134954;11739188;11798067;12200365;12477932;12482957;12684674;12814948;12975309;14990974;15340161;15489334;15820317;16204037;16344560;16914569;17157169;17533181;17664272;17692341;17728344;17822320;17916635;17998388;18055448;18056450;18339870;18435556;18577711;19208840;19263417;19816565;20036815;20167561;20167860;20182391;20193271;20508179;20558614;20959466;21045140;21212269;21362319;21362320;21372153;21474814;21517260;21526177;21726900;21832157;22010178;22020917;22066479;22296176;22589738;22699504;23086751;23108591;23207622;23239744;23275120;23300864;23787764;23817492;23839946;23898884;23901223;23950980;24025398;24025447;24504253;24615277 54567 Q9NR61 AB036931;AB043894;ABBA01038427;AC020661;AF253468;AF279305;AI478830;AK308755;AK313831;AMYH02030255;AMYH02030256;AY358894;BC106950;BI820351;CH471125;DA089757;NM_019074 AAF76427;AAF81912;AAI06951;AAQ89253;BAB16085;BAB18581;BAG36565;EAW92466;NP_061947;Q9NR61 Hs.511076 1676332;1794520;1794522;1795694;2106813;2185908 DLL4_593;PMC316657P1;PMC316657P2;RH78211;UniSTS:465451;UniSTS:70152 MGC126344;delta 4;delta4;hdelta2 delta ligand 4;delta-like 4 homolog;delta-like 4 protein;delta-like protein 4;drosophila Delta homolog 4;notch ligand DLL4;notch ligand delta-2 APPROVED protein-coding ENSG00000128917 HGNC:2910 05540 605185 REVIEWED 1343406 DLSTP1 dihydrolipoamide S-succinyltransferase pseudogene 1 1 1 1 p31 74447616 74450373 - 76207708 76210467 - 75742023 75744782 - 1580863 8009371;8076640 1744 Q16187 ABBA01074418;AL357314;AMYH02001282;D29970;NG_002326;NG_007045 1792750;1792756;2189357 MARC_2710-2711:991933212:3;PMC162151P1;PMC162151P4 DLSTP APPROVED pseudo HGNC:2912 INFERRED 1605091 DLGAP4 discs, large (Drosophila) homolog-associated protein 4 The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 31702551 31864100 + 34995444 35157040 + 36367041 36528637 + 6480464;8554872 10231032;10521485;10527873;10862698;11487731;11780052;12477932;12675619;14702039;15146197;16169070;16275660;16344560;16751776;17474147;18854154;19041681;19086053;21139048;21900206;22510267;24250222;9115257;9581761;9620694 22839 F8WF49;Q9Y2H0 AB023181;ABBA01006569;ABBA01006570;ABBA01006571;ABBA01006572;ABBA01006573;ABBA01006574;ABBA01006575;AF088030;AI984397;AK001681;AK024674;AK055152;AK057672;AK125383;AL050318;AL120584;AL390374;AL445705;AL450465;AL512784;AMYH02037020;AMYH02037021;AMYH02037022;AMYH02037023;AMYH02037024;AMYH02037025;AX877282;BC023214;BC108706;BC118623;BC153874;BF345846;BU845397;CH471077;CN419826;DA215461;DA688888;DB283453;DQ575843;FP565581;FP565784;HY068872;JN854134;KF456888;NM_001042486;NM_014902;NM_183006;XM_005260329;XM_005260331;XM_005260332;XM_005260333;XR_430296 AAI08707;AAI53875;AAI67861;BAA76808;CAE89655;EAW76135;EAW76136;EAW76137;EAW76138;EAW76139;EAW76140;NP_001035951;NP_055717;NP_892118;Q9Y2H0;XP_005260386;XP_005260388;XP_005260389;XP_005260390 Hs.249600 1655016;1712553;1773263;1780440;2150573;2175164;2182667;2217264;5015861;5020635;5024039;5109281;7185938 AL031198;D10S16;D16S325;D1S1425;D20S581E;D7S3207;DLGAP_4_3548;N28159;RH66100;SHGC-35710;STS-R40690;stbA2182L9A DAP-4;DAP4;DLP4;FLJ20588;KIAA0964;MGC131862;RP5-977B1.6;SAPAP-4;SAPAP4 OTTHUMP00000030861;OTTHUMP00000030862;OTTHUMP00000030863;PSD-95/SAP90-binding protein 4;SAP90/PSD-95-associated protein 4;disks large associated protein 4;disks large-associated protein 4 APPROVED protein-coding ENSG00000080845 HGNC:24476 16826 REVIEWED 735462 DLL3 delta-like 3 (Drosophila) This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13 36791266 36800828 + 39989557 39999121 + 39498917 39508481 + 1599775;1580863;1304491;1304493;2302204;6480464;6484113;6907045;7240710;8554872;8699517 10742114;12141422;14743446;17761886 10364530;11923214;12477932;12746394;12791036;15200511;15489334;15717203;16303743;16344560;18676613;19453261;20301533;20301771;20687255;21048031;23337976;24250222 10683 M0R177;Q9NYJ7 AA865362;ABBA01040731;ABBA01040732;AC011500;AF241373;AK075302;AK308460;AMYH02036096;AMYH02036097;BC000218;BQ420593;CH471126;DB035825;NG_008256;NM_016941;NM_203486 AAF62542;AAH00218;ABM82773;ABM85961;BAC11535;EAW56905;EAW56906;NP_058637;NP_982353;Q9NYJ7 Hs.127792 SCDO1;delta3 delta-like protein 3;drosophila Delta homolog 3 APPROVED protein-coding ENSG00000090932 HGNC:2909 04140 277300;602768 REVIEWED 1320012 DLX1 distal-less homeobox 1 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 2 q32 166566309 166570503 + 172950208 172954402 + 172085480 172089674 + 6480464 12050665;12477932;14671321;14702039;14769946;15489334;16266434;18384059;18728693;19058789;19453261;20634891;21357706;22984994;23312518;23535729;24722188;7907794 1745 F8VXJ2;J3KP55;P56177;X5D2F9 ABBA01020734;AC015976;AK095266;AK290503;AK308842;AMYH02005228;AY257976;BC013010;BC036189;BC053351;CH471058;KJ534824;NG_009218;NM_001038493;NM_178120 AAH36189;AAH53351;AAO91939;AAY14732;ABW03404;ABW03739;AHW56464;BAC04515;BAF83192;EAX11181;EAX11182;EAX11183;EAX11184;EAX11185;EAX11186;EAX11187;NP_001033582;NP_835221;P56177 Hs.407015 1795696 DLX1_1597 OTTHUMP00000082494;OTTHUMP00000082495;OTTHUMP00000082497;OTTHUMP00000242111;OTTHUMP00000242112;distal-less homeo box 1;homeobox protein DLX-1 APPROVED protein-coding ENSG00000144355 HGNC:2914 08961 600029 REVIEWED 733842 DLL1 delta-like 1 (Drosophila) DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008] 6 6 6 q27 171388861 171397261 - 170591288 170599815 - 170282200 170290727 - 1580863;1304491;1304492;2302204;6480464;6482235;6482236;6482238;6484113;6907045 10079256;14743446;17114010;17761886;17947672;21220737 10473134;10473135;10688816;10958687;11006133;11346656;11581320;11823422;11912004;12036964;12050162;12393852;12482954;12684674;12794186;12826675;12975309;14529612;14574404;14769803;15254769;15492857;15509766;15781650;15851488;15905513;15908431;15976178;16225865;16307184;16317090;16344560;17234965;17301032;17584735;17939407;18320325;18676613;19150223;19590514;19603167;19680556;19682396;19724883;20170633;20301702;20418862;20554499;20812035;21196490;21238798;21372153;21392732;21602525;21602795;21643850;21726900;21742847;21911304;21931765;21949024;21980299;21985982;22080880;22094583;22561395;22658936;23300864;23327670;23839946;24025447;9244302;9858718;9882480 28514 O00548 ABBA01030854;AF196571;AF222310;AK314234;AL078605;AMYH02015012;AY358892;BC028096;CH471051;DA243552;DR000029;NG_027940;NM_005618;XM_005266934;XM_006725014 AAF05834;AAG09716;AAI52804;AAQ89251;BAG36904;EAW47425;NP_005609;O00548;XP_005266991;XP_006725077 Hs.379912 1795692;5494199 DLL1_1441;Dll1 DELTA1;DL1;H-Delta-1 Delta;OTTHUMP00000017690;delta-like 1 protein;delta-like protein 1;drosophila Delta homolog 1 APPROVED protein-coding ENSG00000198719 HGNC:2908 05957 606582 REVIEWED 1312567 DLX3 distal-less homeobox 3 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008] 17 17 17 q21 44522674 44527893 - 48067369 48072588 - 49990005 49995224 - 1580863;6480464;7240710;8554872;8699517 11113121;11343707;11773066;11792834;12477932;12878157;14670999;15454107;15489334;15666299;16187309;16247549;16301156;16303743;16467978;16687405;17559453;17611665;18203197;18362318;18492670;18978678;19282665;19453261;19608154;20151948;20542333;21252474;21268066;21520071;21802725;21988832;22107079;22113468;23831639;24321094;7613049;8889548;8975708;9467018 1747 F8VXG1;O60479 AA604314;ABBA01041222;AC009720;AF028233;AF452638;AK075167;AK313257;AMYH02033583;BC012361;BC028970;BM982262;CB990401;CH471109;CQ783858;NG_023063;NM_005220 AAC14397;AAH12361;AAH28970;AAL99504;ABM83151;ABM86351;BAG36067;BAG52078;CAF86895;EAW94650;NP_005211;O60479 Hs.134194 1795140;1797480;2139250 AF028234;DLX3_2079;PMC99823P1 AI4;TDO OTTHUMP00000220808;distal-less homeo box 3;homeobox protein DLX-3 APPROVED protein-coding ENSG00000064195 HGNC:2916 02752 104510;190320;600525 REVIEWED 1318695 DLX4 distal-less homeobox 4 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008] 17 17 17 q21.33 44501872 44507635 + 48046562 48052323 + 49969198 49974959 + 1580863;6480464 10831122;11069021;11084035;11707330;11792834;11909945;12477932;12820413;15308321;15489334;16712791;17003054;17062780;17260014;17474147;17999690;18026954;18420035;18931648;18978678;18992636;19242057;20634891;21297662;21602546;21988832;23091415;23158431;24250222;24824934;24947980;8975708;9073066;9096128;9467018;9481790;9665637 1748 Q92988 ABBA01041222;AC009720;AF028235;AF254115;AF452638;AMYH02033583;BC005812;BC014419;BC016145;BG479840;BT006978;BX105774;BX113580;CB131875;CH471109;DR004878;NG_030592;NM_001934;NM_138281;U31762;U73328 AAC14398;AAC50942;AAC51171;AAG31975;AAH05812;AAH14419;AAH16145;AAL99503;AAP35624;EAW94651;EAW94652;EAW94653;EAW94654;EAW94655;NP_001925;NP_612138;Q92988 Hs.591167 1298103;1298180;1298204;1768999;1793272;2154467;5021708 D4S2366;D4S2397;D4S2639;PMC20354P1;RH12668;RH36424;ksks321 BP1;DLX7;DLX8;DLX9 OTTHUMP00000220790;OTTHUMP00000220791;beta protein 1;distal-less homeo box 7;distal-less homeo box 9;homeobox protein DLX-4;homeobox protein DLX-7;homeobox protein DLX-8 APPROVED protein-coding ENSG00000108813 HGNC:2917 03553 601911 REVIEWED 1347834 DLX6 distal-less homeobox 6 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008] 7 7 7 q22 91329217 91334279 + 96635290 96640352 + 97005978 97011040 + 1580863;6480464 11711438;12193642;12477932;12707945;12853948;14702039;15489334;17701895;19195802;19453261;20634891;20808887;21108812;22342398;22939624;23169702;7907794;8012384;8733122 1750 G3V471;P56179 ABBA01045755;ABBA01045756;ABBA01045757;AC004774;AK094086;AMYH02016315;BC069363;BC103688;BC103689;BC103690;BC109381;BU616500;CH236949;CH471091;NM_005222;Z58433 AAC17832;AAH69363;AAI03689;AAI03690;AAI03691;AAI09382;BAG52812;EAL24122;EAW76744;NP_005213;P56179 Hs.249196 1674069;1681568;2164475;2164477 A005M09;D7S2918;G20327;RH91820 MGC125282;MGC125283;MGC125284;MGC125285 OTTHUMP00000205294;distal-less homeo box 6;homeobox protein DLX-6 APPROVED protein-coding ENSG00000006377 HGNC:2919 02493 600030 REVIEWED 6481399 DLX6-AS2 DLX6 antisense RNA 2 q21.3 100873931 AC004774;BX374960 APPROVED ncrna HGNC:40183 1351427 DM1 dystrophia myotonica 1 (includes dystrophia myotonia protein kinase) 338023 HGNC:2923 1351694 DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] 14 14 14 q24.3 55386967 55408821 + 75348594 75370450 + 74881891 74903747 + 1358587;1580863;2306878;6480464;6907045 10227647;10672230 11436125;11445257;11825528;12477932;12805207;15038610;15146197;15466852;15489334;16169070;16196087;16344560;17207965;17220478;18029348;18976975;19287380;1943690;19615732;19946888;20379614;20877624;21139048;2188967;21890473;21906983;22235656;22632162;22797925;22939629;22952844;23000965;23144319;23475850;2365294;23874603;24816145;3571202;3753002;8009371;8076640;8240324;8268217;8584231;8889548;8889549;9405249;9727038;9894876 1743 B7Z6J1;B7ZAZ8;G3V3F0;G3V498;G3V5L9;G3V5M3;H0YJF9;P36957;Q86SW4 AA101667;ABBA01030712;AC006530;AI087261;AK289414;AK299505;AK300396;AK316463;AL538322;AMYH02029525;AMYH02029526;AU133381;BC000302;BC001922;BC002735;BM682697;BM928746;BM929953;BU623022;BX248276;BX248764;BX248774;CH471061;CN422511;CR456727;CX163292;D16373;D17297;D26535;DA995927;DC338747;L37418;NG_030313;NM_001244883;NM_001933;NR_033814;NR_045209 AAB59629;AAD30181;AAH00302;AAH01922;ADQ32761;BAA03871;BAA04130;BAA05536;BAF82103;BAH13054;BAH13277;BAH14834;CAD62604;CAD66571;CAD66581;CAG33008;EAW81199;EAW81200;EAW81201;EAW81202;NP_001231812;NP_001924;P36957 Hs.525459 1767457;1792750;1792752;1792754;1792756;2116386;2118960;2189357;5091119 G10732;MARC_2710-2711:991933212:3;PMC162151P1;PMC162151P2;PMC162151P3;PMC162151P4;RH17385;RH70222;SHGC-37068 DLTS;E2K;OGDC-E2 2-oxoglutarate dehydrogenase complex component E2;OTTHUMP00000246155;OTTHUMP00000246160;dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex;dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial APPROVED protein-coding ENSG00000119689 HGNC:2911 00520 126063 REVIEWED 1312529 DLX2 distal-less homeobox 2 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008] 2 2 2 q32 166580267 166583579 - 172964166 172967478 - 172099438 172102750 - 1580863;6480464;7240710 11279128;11675124;12477932;12957859;1354641;15489334;15576338;15751970;18728693;19018235;19453261;20634891;21108812;21357706;21890473;21917150;21988832;23312518;23331016;23535729;23674878;24722188;7590232;7901126;7907794;8812481;9111364 1746 Q07687;Q53QU7;X5D7D8 AA912071;AB208823;ABBA01020734;AC104801;AK291367;AK297503;AK316129;AMYH02005228;BC032558;BE905163;CH471058;KJ534825;L07919;NG_009219;NM_004405;U51003 AAA19663;AAB40902;AAH32558;AAY14956;ADR82772;AHW56465;BAD92060;BAF84056;BAG59916;BAH14500;EAX11180;NP_004396;Q07687 Hs.419 2148718 RH68996 TES-1;TES1 OTTHUMP00000163116;distal-less homeo box 2;homeobox protein DLX-2 APPROVED protein-coding ENSG00000115844 HGNC:2915 00527 126255;600202 REVIEWED 732542 DLK1 delta-like 1 homolog (Drosophila) This gene encodes a transmembrane protein containing six epidermal growth factor repeats. The protein is involved in the differentiation of several cell types, including adipocytes; it is also thought to be a tumor suppressor. It is one of several imprinted genes located in a region of on chr 14q32. Certain mutations in this imprinted region can cause phenotypes similar to maternal and paternal uniparental disomy of chromosome 14 (UPD14). This gene is expressed from the paternal allele. A polymorphism within this gene has been associated with child and adolescent obesity. The mode of inheritance for this polymorphism is polar overdominance; this non-Mendelian inheritance pattern was first described in sheep with the callipyge phenotype, which is characterized by muscle hypertrophy and decreased fat mass. [provided by RefSeq, Mar 2010] 14 14 14 q32 81247286 81255551 + 101193202 101201467 + 100726865 100735130 + 1625600;1625622;1580863;6480464;6484113;7240533;8554872 14743499;16288219;20626350 10354070;10393432;10508217;11076856;11168589;11337479;11701723;11731499;11742219;11846389;12045206;12112016;12239715;12477932;12672031;12768436;12815599;15010842;15068508;15120973;15289021;15340161;15489334;15605081;15677533;15798773;15806146;15854893;15959531;16403460;16439445;16778176;16901742;17182623;17207965;17213841;17601927;18176563;18236070;18248640;18282507;18352842;18375047;18398438;18454453;18478039;18532878;18575777;18628527;18698157;19427405;19453261;19477929;19541743;19685073;19779261;19786834;19934310;19966805;20058200;20089961;20214740;20331358;20356822;20561424;20959062;21252254;21737452;21761283;21871428;22139419;22238367;22259053;22292722;22508185;22513084;22825660;22943828;2308864;23136397;23145177;23410724;23415968;23577150;23579340;23831361;23979788;24123616;24173021;24243972;24249679;24374217;24816254;3470797;7711066;7925474;8095043;8500166;8501199;8985741;9001251 8788 G3V2R7;G3XAH5;P80370;Q969Y6 ABBA01048521;ABBA01048522;ABBA01048523;AK289384;AK297918;AK313258;AL132711;AMYH02029859;AMYH02029860;BC007741;BC013197;BC014015;BU176937;BX357053;CB857925;CH471061;CR621464;DB498121;DQ017081;DQ126100;DQ138965;DQ309460;NG_016863;NM_003836;U15979;U15981;X17544;Z12172 AAA75364;AAA75365;AAH07741;AAH13197;AAH14015;AAY40461;AAZ38943;AAZ66768;ABC26875;ADQ32169;BAF82073;BAG36068;BAG60236;CAA35582;CAA78163;EAW81711;EAW81712;EAW81713;NP_003827;P80370 Hs.533717 1657553;1722443;1797100;2132655 DLK1;G60298;RH18094;RH69622 DLK;DLK-1;Delta1;FA1;PREF1;Pref-1;ZOG;pG2 OTTHUMP00000246567;OTTHUMP00000246568;delta-like homolog (drosophila);fetal antigen 1;preadipocyte factor 1;protein delta homolog 1;secredeltin APPROVED protein-coding ENSG00000185559 HGNC:2907 01446 176290 REVIEWED 733723 DLX5 distal-less homeobox 5 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008] 7 7 7 q22 91343634 91348072 - 96649702 96654143 - 97020390 97024831 - 1580863;6480464;7240710;8554872;8699517 10451362;10516593;11084035;11168022;11675124;11959851;12145306;12477932;12690205;12782124;12853948;14702039;15489334;15954098;16344560;16467978;16582099;17363207;17701895;18029348;18316591;18413826;19195802;19453261;19497851;20634891;20808887;21045156;21108812;21205918;21890473;22121204;22332551;22342398;23169702;23193016;7907794;7987313;8889549;9111364 1749 B7Z4P3;P56178;Q53Y73 AA129308;ABBA01045755;AC004774;AK023493;AK297614;AMYH02016315;BC006226;BT006903;CH236949;CH471091;DB280023;NG_009220;NM_005221;XM_005250185 AAC17833;AAH06226;AAP35549;BAB14587;BAH12629;EAL24121;EAW76741;NP_005212;P56178;XP_005250242 Hs.99348 1768123;1791268;1797482;5017919;5127682;7188533 D7S527;DLX5_2316;DLX6;Dlx5;MARC_9717-9718:996688547:1;RH69322 SHFM1D OTTHUMP00000205292;distal-less homeo box 5;homeobox protein DLX-5;split hand/foot malformation type 1 with sensorineural hearing loss APPROVED protein-coding ENSG00000105880 HGNC:2918 02492 220600;600028 REVIEWED 3029858 DLX6-AS1 DLX6 antisense RNA 1 INTERACTS WITH valproic acid; thimerosal (ortholog) 7 7 7 q21.3 91291737 91337304 - 96594746 96643377 - 96968515 97014065 - 6480464 12477932;12690205;14702039;16705037 285987 ABBA01045755;ABBA01045756;ABBA01045757;ABBA01045758;AC004774;AK055423;AK091367;AK095619;AK095764;AK308769;AK309768;AMYH02016313;AMYH02016314;AMYH02016315;BC101445;BC101446;BC101447;BC101985;BC113049;BE263812;CH236949;HG500424;HG500430;HG500431;NR_015448 EAL24123 Hs.34969 1674069;1681568;1854845;2164475;2164477;2165065;2187080;5493573 A004Q32;A005M09;D7S2918;G20327;RH47418;RH91820;UniSTS:487300;WI-21635 DLX6-AS;DLX6AS;Evf-2;FLJ34048;NCRNA00212 APPROVED ncrna HGNC:37151 VALIDATED 1322676 DMAP1 DNA methyltransferase 1 associated protein 1 This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 1 1 1 p34 42962448 42969674 + 44679104 44686351 + 44213453 44220679 + 1580863;6480464;9495926 21502417 10718198;10888872;11076863;11230166;11913976;12477932;12963728;14665632;14702039;14734556;14966270;14978102;15033475;15196461;15345747;15367675;15489334;15489336;15647280;16341674;16381901;16387653;16710414;16712791;16964243;17081983;17371848;17573780;17643375;19156129;19454010;19845771;20864525;20920467;20946988;21139048;21284050;21549307;21693764;22467210;22939629;23318425;24163370;24457600;24816145 55929 B4DQG8;Q5TG36;Q5TG37;Q5TG38;Q5TG39;Q5TG40;Q9NPF5 AB037846;ABBA01050929;AF265228;AK021605;AK054954;AK092898;AK096252;AK289366;AK293598;AK298793;AK300217;AK300372;AK300442;AL035417;AL136657;AL137200;AMYH02000915;BC002855;BC008053;BM827551;BU616029;BX537895;CA842195;CB123593;CH471059;NM_001034023;NM_001034024;NM_019100;XM_005271037;XM_005271039;XM_005271040;XM_006710771;XM_006710772 AAF87079;AAH02855;AAH08053;ABM84100;ABM87472;BAA92663;BAB13854;BAF82055;BAG57063;BAG60930;BAG61985;BAG62108;BAG62165;CAB66592;CAB69910;CAD97886;CAL38490;EAX07046;EAX07047;EAX07048;EAX07049;EAX07050;EAX07051;NP_001029195;NP_001029196;NP_061973;Q9NPF5;XP_005271094;XP_005271096;XP_005271097;XP_006710834;XP_006710835 Hs.8008 1732794;5022651;5106795 D11S2921;D1S1251;STS-AA040569 DKFZp686L09142;DNMAP1;DNMTAP1;EAF2;FLJ11543;KIAA1425;MEAF2;SWC4 DNA methyltransferase 1-associated protein 1;DNMT1 associated protein 1;DNMT1-associated protein 1;OTTHUMP00000008845;OTTHUMP00000008846;OTTHUMP00000008847;OTTHUMP00000008891 APPROVED protein-coding ENSG00000178028 HGNC:18291 05465 605077 REVIEWED 6481392 DMD-AS1 DMD antisense RNA 1 100873925 AC006061;AC078958;AC079143 APPROVED ncrna HGNC:42629 6481385 DMD-AS2 DMD antisense RNA 2 100873915 AC078958;AC090632 APPROVED ncrna HGNC:40184 1606387 DMBT1P1 deleted in malignant brain tumors 1 pseudogene 1 10 10 10 q26.13 118222699 118263646 + 124516210 124557161 + 122756694 122797645 + 375940 ABBA01062840;AK128228;AL731543;AMYH02023957;NR_003570 BAC87338 Hs.650695 1662062;1758257;5015861 AFM338zc9;D10S16;SHGC-147816 APPROVED pseudo ENSG00000176584 HGNC:49497 09964 PROVISIONAL 6481382 DMD-AS3 DMD antisense RNA 3 p21.1 11329013 100873916 AL096699;BG208074 APPROVED ncrna HGNC:40185 735357 DMBT1 deleted in malignant brain tumors 1 Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. The gene DMBT1 was originally isolated based on its deletion in a medulloblastoma cell line. DMBT1 is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The DMBT1 protein is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor supressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Jul 2008] 10 10 10 q26.13 118052442 118110650 + 124320181 124403252 + 122560665 122643736 + 1599778;1599780;1599782;1580863;6480464;8554872 12419858;17102098;9288095 10101009;10485905;10551316;10597221;11007786;11550206;11563989;11751412;11829014;11912156;12015815;12050164;12168116;12185598;12203780;12239452;12353266;12368192;12477932;12672033;12681477;12689412;12871854;14603438;14676191;14732920;15101998;15164054;15218048;15228387;15242536;15301691;15355985;15564322;15731026;15754018;15760920;15866713;16042587;16190864;16385451;16740002;16790779;16796526;17066405;17243023;17548659;17709527;17908325;17983803;18020944;18452511;18641344;18713006;18849643;19189310;19199708;19207948;19465482;19553331;19830809;20418254;20824812;21139048;21145461;21167560;21167898;21252943;21920605;21956756;21999583;22069308;22112028;22211283;22296301;22805772;23034003;23107584;23218398;23602568;23691218;23815775;24223725;7784070;9153228;9888459 1755 Q9UGM3 AB020851;AB209691;ABBA01062840;ABBA01062841;ABBA01062842;ABBA01062843;ABBA01062844;ABBA01140961;AF159456;AJ000342;AJ243211;AJ243212;AJ243224;AJ297935;AK304128;AK304149;AL603764;AMYH02023951;AMYH02023952;AMYH02023953;AMYH02023954;AMYH02023955;AMYH02023956;BC153299;BX640988;CH471066;FJ234410;NG_012644;NM_004406;NM_007329;NM_017579;XM_006717660;XM_006717661;XM_006717662;XM_006717663;XM_006717664;XM_006717665;XM_006717666;XM_006717667;XM_006717668;XM_006717669;XM_006717670;XM_006717671;XM_006717672;XM_006717673;XM_006717674;XM_006717675;XM_006717676;XM_006717677;XM_006717678;XM_006717679 AAD49696;AAI53300;ACI95281;BAA78577;BAD92928;BAG65024;BAH14118;CAA04019;CAB56155;CAB63941;CAB63942;CAC44122;CAE45995;EAW49308;EAW49309;EAW49310;EAW49311;NP_004397;NP_015568;NP_060049;Q9UGM3;XP_006717723;XP_006717724;XP_006717725;XP_006717726;XP_006717727;XP_006717728;XP_006717729;XP_006717730;XP_006717731;XP_006717732;XP_006717733;XP_006717734;XP_006717735;XP_006717736;XP_006717737;XP_006717738;XP_006717739;XP_006717740;XP_006717741;XP_006717742 Hs.279611 1791570 PMC115222P1 FLJ61058;GP340;MGC164738;SAG;gp-340 OTTHUMP00000020654;OTTHUMP00000020655;OTTHUMP00000020656;OTTHUMP00000020657;OTTHUMP00000020658;OTTHUMP00000020659;OTTHUMP00000020660;OTTHUMP00000020661;OTTHUMP00000020662;OTTHUMP00000020663;deleted in malignant brain tumors 1 protein;glycoprotein 340;hensin;muclin;salivary agglutinin;surfactant pulmonary-associated D-binding protein APPROVED protein-coding ENSG00000187908 HGNC:2926 03575 601969 REVIEWED 1317940 DMBX1 diencephalon/mesencephalon homeobox 1 This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p33 45260058 45267288 + 46972668 46979898 + 46489870 46514226 + 1580863;6480464;8554872 12055180;12142024;15890343;16710414;17990594;23314748 127343 Q8NFW5 AB037699;ABBA01050837;AF398527;AF398528;AL137797;AMYH02000961;AY726596;CH471059;NM_147192;NM_172225;XM_006710355 AAI56065;AAI56882;AAM90589;AAM90590;BAC00920;EAX06907;NP_671725;NP_757379;Q8NFW5;XP_006710418 Hs.375623 5022450;5109281 D10S275;D1S1425 MBX;OTX3;PAXB OTTHUMP00000009672;OTTHUMP00000009673;diencephalon/mesencephalon homeobox protein 1;homeoprotein MBX;orthodenticle homolog 3;paired-like homeobox protein DMBX1;paired-like homeobox protein DMBX1-like APPROVED protein-coding ENSG00000197587 HGNC:19026 07593 607410 REVIEWED 732173 DMRT1 doublesex and mab-3 related transcription factor 1 This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008] 9 9 9 p24.3 759599 886997 + 841690 969090 + 841647 969090 + 1580863;6480464 10332030;10604464;10857744;10999792;11040213;11252745;11329013;12434333;12477932;15164053;15489334;16617334;20007774;20211142;20379614;20467438;20543847;20596660;20685758;21462105;21551455;21617256;22573722;22899867;22939835;23251661;23303528;23377640;23555275;23666239;23666240;9490411 1761 H3BN61;Q9Y5R6 ABBA01065450;ABBA01065451;ABBA01065452;AF130728;AJ276801;AK310336;AK313594;AL136365;AL162131;AMYH02019032;AMYH02019033;AMYH02019034;AY442914;AY442915;BC040847;BG202785;CH471071;NG_009221;NM_021951;XM_006716732 AAD40474;AAH40847;AAR89619;AAR89620;ABZ91997;BAG36360;CAB82427;CAB82851;EAW58820;NP_068770;Q9Y5R6;XP_006716795 Hs.98586 2108019 DMRT1_8302 CT154;DMT1 DM domain expressed in testis 1;DM domain expressed in testis protein 1;OTTHUMP00000020961;doublesex- and mab-3-related transcription factor 1 APPROVED protein-coding ENSG00000137090 HGNC:2934 03885 602424 REVIEWED 736576 DMP1 dentin matrix acidic phosphoprotein 1 Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q21 85859845 85873897 + 88571454 88585513 + 87650302 87664361 + 1580863;6480464;7240710;8554872;8699517 10757113;10775676;11825898;11856645;12477932;12615915;12929940;14578349;15001995;15108359;15329369;15728181;15954904;16294270;16357164;16421105;16679514;17033621;17033625;17136477;17434448;17936562;18029348;18037646;18214537;18660670;18757373;18819913;19007919;19453261;19679205;19796717;19913121;20201926;20213538;20499351;20628086;21050253;21062982;21190990;21299946;21642437;21963094;22093791;22152625;22552299;22695891;23064961;23559304;8509401;8586437;8889549;9177774 1758 Q13316 ABBA01063537;AC093895;AI371158;AMYH02009682;BC130581;BC132865;CH471057;H89203;NG_008988;NM_001079911;NM_004407;U34037;U65378;U89012 AAA97602;AAB87728;AAC51332;AAI30582;AAI32866;ADR83044;EAX05996;EAX05997;NP_001073380;NP_004398;Q13316 Hs.652366 1667886;2135849;2156200 G34172;SHGC-25118;SHGC-67403 ARHP;ARHR;DMP-1 OTTHUMP00000161172;OTTHUMP00000218558;dentin matrix protein 1 APPROVED protein-coding ENSG00000152592 HGNC:2932 02989 241520;600980 REVIEWED 1605012 DMKN dermokine This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2010] 19 19 19 q13.12 32701640 32718078 - 35988119 36004560 - 35491625 35513661 - 6480464;8554872 11441184;12477932;12975309;14702039;15234001;15342556;16374476;17207965;17380110;19322201;21423773;21832049;22735594;23060565;23428944 93099 A3EZ84;C9IYI1;C9J186;C9J3V3;C9JCN1;E7EMS7;E9PAQ7;H7BZ95;M0QZU6;M0R0A5;M0R0W2;M0R1M0;M0R265;M0R3F8;Q6E0U4;R4GMQ0;S4R2X7;S4R3L7;S4R425;S4R427 ABBA01018746;AC138125;AD001502;AF086315;AI914430;AK096215;AK125695;AK304668;AK316475;AL832080;AMYH02035985;AY358412;AY622964;AY622965;AY789695;AY789696;AY789697;AY789698;AY789699;AY789700;AY789701;AY789702;AY789703;AY789704;AY789705;AY789706;AY789707;BC004493;BC011886;BC035311;BP326188;EF158319;EF158320;EF158321;EF158322;EF158323;EF158324;EF158325;EF158326;NM_001035516;NM_001126056;NM_001126057;NM_001126058;NM_001126059;NM_001190347;NM_001190348;NM_001190349;NM_033317;NR_033746;XM_006723476;XM_006723477;XM_006723478;XM_006723479;XM_006723480;XM_006723481;XM_006723482;XM_006723483;XM_006723484;XM_006723485;XM_006723486;XM_006723487;XM_006723488;XM_006723489;XM_006723490;XM_006723491;XM_006723492;XM_006723493;XM_006723494;XM_006723495;XM_006723496;XM_006723497;XM_006723498;XM_006723499;XM_006723500;XM_006723501;XM_006723502;XM_006723503;XR_430216;XR_430217;XR_430218;XR_430219;XR_430220;XR_430221 AAH04493;AAH11886;AAH35311;AAQ88778;AAT68268;AAT68269;AAX48745;AAX48746;AAX48747;AAX48748;AAX48749;AAX48750;AAX48751;AAX48752;AAX48753;AAX48754;AAX48755;AAX48756;AAX48757;ABN11271;ABN11272;ABN11273;ABN11274;ABN11275;ABN11276;ABN11277;ABN11278;ADQ31917;BAG65443;BAH14846;NP_001030593;NP_001119528;NP_001119529;NP_001119530;NP_001119531;NP_001177276;NP_001177277;NP_001177278;NP_201574;Q6E0U4;XP_006723539;XP_006723540;XP_006723541;XP_006723542;XP_006723543;XP_006723544;XP_006723545;XP_006723546;XP_006723547;XP_006723548;XP_006723549;XP_006723550;XP_006723551;XP_006723552;XP_006723553;XP_006723554;XP_006723555;XP_006723556;XP_006723557;XP_006723558;XP_006723559;XP_006723560;XP_006723561;XP_006723562;XP_006723563;XP_006723564;XP_006723565;XP_006723566 Hs.417795 5016596 GDB:631802 FLJ79374;FLJ79374,;UNQ729;ZD52F10 OTTHUMP00000045773;OTTHUMP00000207839;OTTHUMP00000207840;OTTHUMP00000207841;OTTHUMP00000207842;OTTHUMP00000207843;OTTHUMP00000207844;OTTHUMP00000207845;OTTHUMP00000207891;OTTHUMP00000207892;OTTHUMP00000207894;OTTHUMP00000208003;OTTHUMP00000208004;OTTHUMP00000208006;epidermis-specific secreted protein SK30/SK89 APPROVED protein-coding ENSG00000161249 HGNC:25063 12387 REVIEWED 1320325 DMRTA1 DMRT-like family A1 ENCODES a protein that exhibits metal ion binding (inferred); protein homodimerization activity (inferred); sequence-specific DNA binding (inferred); INVOLVED IN male mating behavior (inferred); ovarian follicle development (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH silicon dioxide; trichostatin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 p21.3 22385141 22390773 + 22446840 22452472 + 22446841 22452473 + 6480464;8554872 11863363;12477932;14702039;15164053;21988832;22939624;24057671 63951 Q5VZB9 ABBA01065166;AJ290954;AK096011;AK130018;AL161730;AMYH02019295;BC130435;BC130437;CH471071;NM_022160 AAI30436;AAI30438;BAC04672;CAC16590;EAW58591;NP_071443;Q5VZB9 Hs.371976 DMO;DMRT4;MGC163307;MGC163309 OTTHUMP00000021156;doublesex- and mab-3-related transcription factor A1 protein-coding HGNC:13826 10913 614803 VALIDATED 1316904 DMC1 DNA meiotic recombinase 1 This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 22 22 22 q13.1 22720538 22771771 - 38914954 38966201 - 38518928 38570286 - 1580863;6480464 10562567;10591208;10737800;11005857;12477932;14764457;15125839;15164066;15461802;15489334;15917243;15917244;16341674;16415210;17541404;17639081;18029348;18166824;18355319;18535008;18566005;19004837;19076215;19460752;19714462;20378615;20600108;21151113;21307306;21903585;22156371;23182424;23265958;23545642;8590282;8602360;9826763 11144 B0QYE0;B0QYE1;Q14565 ABBA01055520;ABBA01055521;ABBA01055522;ABBA01055523;ABBA01055524;ABBA01055525;ABBA01055526;ABBA01055527;AK292617;AK297664;AL022320;AMYH02038357;AMYH02038358;AY520538;BC035658;BC125163;BC125164;BG959880;BM545092;BM843634;CH471095;CR456486;D63882;D64108;DB517711;EL953686;NG_017203;NM_001278208;NM_007068;NR_103474;XM_006724110;XM_006724111;XM_006724112;XM_006724113;XR_430399 AAH35658;AAI25164;AAI25165;AAR89915;BAA09932;BAA10970;BAF85306;BAG60028;CAG30372;CAK54477;CAK54776;EAW60249;NP_001265137;NP_008999;Q14565;XP_006724173;XP_006724174;XP_006724175;XP_006724176 Hs.339396 1857316;5022322;5037552;7184822 AL021666;D11S2560;D22S451;D8S2279 DMC1H;HsLim15;LIM15;MGC150472;MGC150473;dJ199H16.1 DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination;DMC1 homologue;OTTHUMP00000199098;OTTHUMP00000199222;disrupted meiotic cDNA1, yeast, homolog of;meiotic recombination protein DMC1/LIM15 homolog APPROVED protein-coding ENSG00000100206 HGNC:2927 04099 602721 REVIEWED 731431 DMGDH dimethylglycine dehydrogenase This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 5 5 5 q14.1 74186336 74258332 - 78293387 78365497 - 78997564 79069674 - 1580863;1547831;6480464;6907045;7240710;7242560;8554872;8699517 15358367;20645850 10102904;10767172;11231903;12107410;12477932;14702039;15342556;18614015;18937046;19048631;19913121;20628086;20634891;20662904;20877624;23378610;23720494 29958 B3KQ84;B4E1J9;E5RG50;E5RGI4;E5RK15;Q8TCC6;Q9UI17 AA676742;ABBA01062002;AC008502;AC020937;AF111858;AI302996;AI469206;AK057641;AK300894;AK303873;AK314736;AMYH02011639;BC022388;BP276968;BP425307;CA397896;CH471084;NG_012164;NM_013391;NR_104002;NR_104003;XM_006714597;XM_006714598 AAF21941;AAH22388;AAI56313;AAI72462;BAG37277;BAG51946;BAG62533;BAG64811;EAW95824;EAW95825;NP_037523;Q9UI17;XP_006714660;XP_006714661 Hs.655653 1757241;1797484;2143728;2161862;5094967 DMGDH;DMGDH_2468;RH11573;RH36395;SHGC-144662 DMGDHD;ME2GLYDH OTTHUMP00000135299;OTTHUMP00000222815;dimethylglycine dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000132837 HGNC:24475 05789 605849;605850 REVIEWED 736976 DMD dystrophin The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008] X X X p21.2 35264860 37484992 - 31137345 33357726 - 31119222 33339609 - 1580858;1580859;6480464;5148023;6771363;6771365;6907045;7240710;8554872;8699517 12359139;20373002;20886625;22338606;3055295 10227401;10355629;10545507;10573008;10747910;10767429;10801490;10867799;10932245;11039581;11076863;11259305;11352924;11381192;11430802;11571312;11717465;11726549;11741599;11795488;11796130;11861579;11882782;11917091;11922612;11997265;12031623;12062429;12107815;12140183;12189167;12206800;12354438;12370193;12376554;12376747;12389738;12398834;12467728;12477932;12480947;12522557;12596052;12606026;12632325;12655282;12659812;12754415;12754707;12757471;12833401;12920092;1307251;1307253;1319059;1377655;1380160;1383546;14513410;14514278;14556187;14559354;14600269;14636778;14652441;14659407;1483053;15024025;1505985;1513469;15149856;15174051;1544421;1549596;15528988;15637982;15643612;15655674;15723292;15772651;16000376;1601417;16094384;16133659;16246949;16276108;16286242;16286249;16295426;1632439;16331671;16344560;16380627;16439510;16461336;16496225;16524176;16569668;16710609;16716778;16777071;16803572;16807118;16824516;16883524;16883579;16891620;16917894;16935300;16936400;17043677;17145200;17150596;17166095;17267499;17285139;17314512;17385798;17428346;17487735;17487865;17503325;1757094;17579806;17620599;17680544;17767400;17826093;17981813;17993586;17997718;18029348;18031759;18039686;18054699;18059005;18083704;18160999;1824797;18253029;18261477;18353051;18445268;18468998;18570328;18583217;18589007;18639760;18646563;18652600;18653336;18752307;18799475;18853462;1889805;18935728;18957474;18957722;18971620;18974567;19001018;19009915;19012301;19027585;19040728;19074751;19084397;19109891;19158079;19158820;19173203;1918370;19194174;19198614;19206170;19230662;19379759;19392646;19409785;19449031;19602481;19609279;19687056;19783145;19793655;19907931;19913121;19927354;19937601;19945424;19959795;1996328;20019182;20031633;20098710;20301298;20301486;20381484;20399196;20434517;20485447;20516809;20625423;20628086;20630757;20646909;20696926;2071150;20811636;20847377;20889312;20936779;21109441;21139048;21151598;21164104;21212803;21305657;21396098;21399986;21402533;21507246;21515508;21523654;21624465;21712383;2176467;21832049;21851881;21854195;21890473;21906983;21963094;21972111;21988832;22006698;22041458;22090376;22092019;22105192;22234188;22234189;22275054;22379338;22425969;22453924;22455600;22505724;22538063;22616200;2261642;22750404;22876130;22894145;22937058;22939629;22985905;22987438;23000965;23028937;23199925;23299919;23395799;23438214;23588064;23650001;23829870;23890933;23900271;24014171;2403634;24047446;24063785;2406613;2407739;24099565;24106963;24213305;24225992;24236769;24505439;24793134;24996370;2569720;2648158;2668885;2677830;2825128;2909892;3205741;3282674;3287171;3346018;3428261;3607877;3659917;3773991;3955860;7545544;7581396;7592992;7633443;7635962;7649554;7795584;7825571;7844150;7849724;7881286;7890602;7890770;7951253;7981590;7981690;8045556;8078878;8083345;8123157;8160755;8199594;8277968;8279470;8282811;8301652;8314593;8322822;8358174;8361506;8387534;8401537;8401582;8499922;8513330;8518789;8541829;8566960;8576247;8789442;8817332;8950674;9119397;9170407;9339369;9356463;9395493;9410897;9412493;9419360;9461390;9683584;9701558;9813236;9851445 1756 A1L0U9;A7E212;B4DSV7;E7EQR9;E7EQS5;E7ESB2;E9PDN5;F5GZY3;F8VX32;H0Y304;H0Y3E8;H0Y864;P11532;Q14172;Q14174;Q16484;Q4G0X0 AB037493;AB208836;ABBA01073015;ABBA01073016;ABBA01073017;ABBA01073018;ABBA01073019;ABBA01073020;ABBA01073021;ABBA01073022;ABBA01073023;ABBA01073024;ABBA01073025;ABBA01073026;ABBA01073027;ABBA01073028;ABBA01073029;ABBA01073030;ABBA01073031;ABBA01073032;ABBA01073033;ABBA01073034;ABBA01073035;ABBA01073036;ABBA01073037;ABBA01073038;ABBA01073039;ABBA01073040;ABBA01073041;ABBA01073042;ABBA01073043;ABBA01073044;ABBA01073045;ABBA01073046;ABBA01073047;ABBA01073048;ABBA01073049;ABBA01073050;ABBA01073051;ABBA01073052;ABBA01073053;ABBA01073054;ABBA01073055;ABBA01073056;ABBA01073057;ABBA01073058;ABBA01073059;ABBA01073060;ABBA01073061;ABBA01073062;ABBA01073063;ABBA01073064;ABBA01073065;ABBA01073066;ABBA01073067;ABBA01073068;ABBA01073069;ABBA01073070;ABBA01073071;ABBA01073072;ABBA01073073;ABBA01073074;ABBA01073075;ABBA01073076;ABBA01073077;ABBA01073078;ABBA01073079;ABBA01073080;ABBA01073081;ABBA01073082;ABBA01073083;ABBA01073084;ABBA01073085;ABBA01073086;ABBA01073087;ABBA01073088;ABBA01073089;ABBA01073090;ABBA01073091;ABBA01073092;ABBA01073093;ABBA01073094;ABBA01073095;ABBA01073096;ABBA01073097;ABBA01073098;ABBA01073099;ABBA01073100;ABBA01073101;ABBA01073102;ABBA01073103;ABBA01073104;ABBA01073105;ABBA01073106;ABBA01073107;ABBA01073108;ABBA01073109;ABBA01073110;ABBA01073111;ABBA01073112;ABBA01073113;ABBA01073114;ABBA01073115;ABBA01073116;ABBA01073117;ABBA01073118;ABBA01073119;ABBA01073120;ABBA01073121;ABBA01073122;ABBA01073123;ABBA01073124;ABBA01073125;ABBA01073126;ABBA01073127;ABBA01073128;ABBA01073129;ABBA01073130;ABBA01073131;ABBA01073132;ABBA01073133;ABBA01073134;ABBA01073135;ABBA01073136;ABBA01073137;ABBA01073138;ABBA01073139;ABBA01073140;ABBA01073141;ABBA01073142;ABBA01073143;ABBA01073144;ABBA01073145;ABBA01073146;ABBA01073147;ABBA01073148;ABBA01073149;ABBA01073150;ABBA01073151;ABBA01073152;ABBA01073153;ABBA01073154;ABBA01073155;ABBA01073156;ABBA01073157;ABBA01073158;ABBA01073159;ABBA01073160;ABBA01073161;ABBA01073162;ABBA01073163;ABBA01073164;ABBA01073165;ABBA01073166;ABBA01073167;ABBA01073168;ABBA01073169;ABBA01073170;ABBA01073171;ABBA01073172;ABBA01073173;ABBA01073174;ABBA01073175;ABBA01073176;ABBA01073177;ABBA01073178;ABBA01073179;ABBA01073180;ABBA01073181;ABBA01073182;ABBA01073183;ABBA01073184;ABBA01073185;ABBA01073186;ABBA01073187;ABBA01073188;ABBA01073189;ABBA01073190;ABBA01073191;ABBA01073192;ABBA01073193;ABBA01073194;ABBA01073195;ABBA01073196;ABBA01073197;ABBA01073198;ABBA01073199;ABBA01073200;ABBA01073201;ABBA01073202;ABBA01073203;ABBA01073204;ABBA01073205;ABBA01073206;ABBA01073207;ABBA01073208;ABBA01073209;ABBA01073210;ABBA01073211;ABBA01073212;ABBA01073213;ABBA01073214;ABBA01073215;ABBA01073216;ABBA01073217;ABBA01073218;ABBA01073219;ABBA01073220;ABBA01073221;ABBA01073222;ABBA01073223;ABBA01073224;ABBA01073225;ABBA01073226;ABBA01073227;ABBA01073228;ABBA01073229;ABBA01073230;ABBA01073231;ABBA01073232;ABBA01073233;ABBA01073234;ABBA01073235;ABBA01073236;ABBA01073237;ABBA01073238;ABBA01073239;ABBA01073240;ABBA01073241;ABBA01073242;ABBA01073243;ABBA01073244;ABBA01073245;ABBA01073246;ABBA01073247;ABBA01073248;ABBA01073249;ABBA01073250;ABBA01073251;ABBA01073252;ABBA01073253;ABBA01073254;ABBA01073255;ABBA01073256;ABBA01073257;ABBA01073258;ABBA01073259;ABBA01073260;ABBA01073261;ABBA01073262;ABBA01073263;ABBA01073264;AC004468;AC006061;AC078957;AC078958;AC079143;AC079175;AC079177;AC079864;AC090632;AC093167;AC093193;AC096506;AF047502;AF047505;AF213402;AF213403;AF213404;AF213405;AF213406;AF213407;AF213408;AF213409;AF213410;AF213411;AF213412;AF213413;AF213414;AF213415;AF213416;AF213417;AF213418;AF213419;AF213420;AF213421;AF213422;AF213423;AF213424;AF213425;AF213426;AF213427;AF213428;AF213429;AF213430;AF213431;AF213433;AF213434;AF213435;AF213436;AF213437;AF213438;AF213439;AF213440;AF213441;AF213442;AF213443;AF213444;AJ271220;AK129855;AK299936;AK309142;AL031542;AL031643;AL049643;AL050305;AL096699;AL109609;AL121880;AL139278;AL139401;AL451144;AL596023;AMYH02039123;AMYH02039124;AMYH02039125;AMYH02039126;AMYH02039127;AMYH02039128;AMYH02039129;AMYH02039130;AMYH02039131;AMYH02039132;AMYH02039133;AMYH02039134;AMYH02039135;AMYH02039136;AMYH02039137;AMYH02039138;AMYH02039139;AMYH02039140;AMYH02039141;AMYH02039142;AMYH02039143;AMYH02039144;AMYH02039145;AMYH02039146;AMYH02039147;AMYH02039148;AMYH02039149;AMYH02039150;BC009242;BC010932;BC028720;BC036103;BC070078;BC094758;BC127103;BC150141;CH471074;D32048;DA804849;DB233002;KF459040;KF459044;KF459045;L01538;L05642;L05646;L05649;L35854;M18533;M23261;M32058;M63072;M63073;M63074;M63075;M81257;M86903;M92650;NG_012232;NM_000109;NM_004006;NM_004009;NM_004010;NM_004011;NM_004012;NM_004013;NM_004014;NM_004015;NM_004016;NM_004017;NM_004018;NM_004019;NM_004020;NM_004021;NM_004022;NM_004023;S38776;S42206;S42212;S60970;S60971;S60972;S60973;S62617;S64152;S81419;U27203;U60822;U90310;U94396;X06178;X06179;X06293;X13045;X13046;X13047;X13048;X14298;X15148;X15149;X15495;X54820;XM_006724468;XM_006724469;XM_006724470;XM_006724471;XM_006724472;XM_006724473;XM_006724474;XM_006724475;XM_006724476;XR_430491 AAA35779;AAA52309;AAA52312;AAA52313;AAA52314;AAA52315;AAA52316;AAA52330;AAA53189;AAA74506;AAA74507;AAA74508;AAA86115;AAA86116;AAB22395;AAB27159;AAB53001;AAC51631;AAD03808;AAD03809;AAD13820;AAD13821;AAD14363;AAH09242;AAH28720;AAH36103;AAH70078;AAH94758;AAI11588;AAI11837;AAI11935;AAI18003;AAI27104;AAI50142;AAL61550;AAL61551;AAL61552;AAL61553;AAL61554;AAL61555;AAL61556;AAL61557;AAL61558;AAL61559;AAL61560;AAL61561;AAL61562;AAL61563;AAL61564;AAL61565;AAL61566;AAL61567;AAL61568;AAL61569;AAL61570;AAL61571;AAL61572;AAL61573;AAL61574;AAL61575;AAL61576;AAL61577;AAL61578;AAL61579;AAL61580;AAL61581;AAL61582;AAL61583;AAL61584;AAL61585;AAL61586;AAL61587;AAL61588;AAL61589;AAL65098;AAL65099;AAL65100;BAA90413;BAD92073;BAG61769;CAA29544;CAA29545;CAA31451;CAA31452;CAA31453;CAA31454;CAA32479;CAA33245;CAA33246;CAA33518;CAA38589;CAD30261;CAE82077;EAW99061;EAW99062;EAW99063;EAW99064;EAW99065;EAW99066;NP_000100;NP_003997;NP_004000;NP_004001;NP_004002;NP_004003;NP_004004;NP_004005;NP_004006;NP_004007;NP_004008;NP_004009;NP_004010;NP_004011;NP_004012;NP_004013;NP_004014;P11532;XP_006724531;XP_006724532;XP_006724533;XP_006724534;XP_006724535;XP_006724536;XP_006724537;XP_006724538;XP_006724539 Hs.495912 1334802;1336150;1338600;1341795;1342162;1647199;1648748;1677905;1678029;1683186;1696244;1700194;1701722;1701762;1701930;1701954;1701990;1702014;1702094;1702516;1702728;1703012;1703146;1703156;1712847;1720545;1720913;1729421;1729435;1729440;1729764;1729766;1729768;1729770;1733204;1740565;1741301;1741539;1741973;1741975;1742031;1742033;1742035;1742037;1742983;1744239;1751583;1751673;1752417;1755479;1758993;1759133;1761161;1767639;1767878;1769746;1771192;1774848;1787202;1791386;1792442;1794526;1851248;1852390;1857016;2114432;2125615;2126391;2127657;2132524;2135206;2136817;2138635;2138661;2138981;2139065;2139513;2140735;2153214;2157434;2158608;2161943;2163742;2166805;2171550;2173899;2182854;2218494;5020441;7183434;7183735;7183736;7183737;7183739;7183742;7183743;7183744;7183746;7183747;7183751;7183972;7183973;7184607;7184756;7186721;7187890;7187957 A002S20;AF020105;AF020114;AF020115;AF020142;AF020158;AFM072zh3;AL023928;BCD1481;D15S1130;DMD;DMD__4749;DXS1036;DXS1067;DXS1214;DXS1234;DXS1235;DXS1236;DXS1237;DXS1238;DXS1241;DXS1242;DXS1243;DXS1311;DXS1411;DXS1417;DXS142;DXS1457;DXS1513;DXS269;DXS503;DXS6833;DXS6973E;DXS6988E;DXS7029E;DXS7499;DXS7526;DXS7605;DXS7630;DXS7826;DXS7840;DXS8219;DXS8358;DXS9709;DXS9746;DXS9907;DXS997;G15848;G59226;G59286;GDB:170312;GDB:180368;GDB:181436;GDB:187368;GDB:187385;GDB:187386;GDB:189991;GDB:189992;GDB:189993;GDB:189994;GDB:226826;GDB:438332;L48020;L77299;L77301;L77318;L77320;L77753;PMC108984P1;PMC151133P1;PMC316713P2;RH103712;RH120140;RH71402;RH80233;RH92485;RH92487;SHGC-101395;SHGC-105582;SHGC-105683;SHGC-106311;SHGC-11932;SHGC-142343;SHGC-145172;SHGC-150573;SHGC-1509;SHGC-33740;SHGC-83612;WI-10707 BMD;CMD3B;DXS142;DXS164;DXS206;DXS230;DXS239;DXS268;DXS269;DXS270;DXS272;MRX85 OTTHUMP00000023117;OTTHUMP00000023121;OTTHUMP00000023124;OTTHUMP00000023125;OTTHUMP00000023126;OTTHUMP00000215590;OTTHUMP00000215591;OTTHUMP00000215592;OTTHUMP00000215846;dystrophin (muscular dystrophy, Duchenne and Becker types);mental retardation, X-linked 85 APPROVED protein-coding ENSG00000198947 HGNC:2928 02303 300376;300377;302045;310200 REVIEWED 1320371 DMPK dystrophia myotonica-protein kinase The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 43079095 43090866 - 46272975 46285815 - 45769709 45782557 - 1580863;1600900;6480464;7240710;8699517;8554872 8595416 10026240;10400997;10601309;10625651;10811636;10869570;10913253;11121205;11287000;11527424;11555624;11592825;11748308;11752456;11766468;11768386;11768387;11781699;11793472;11903110;11903304;11931630;12220642;12427866;12477932;12598332;12600888;12697816;12832055;1302022;1303233;1310900;14510658;14607980;14657503;14701736;14759258;15017064;15039975;15079005;15210527;15284213;15317754;15462191;1546325;1546326;15476170;15583383;15598648;15684391;15722335;15824798;15894391;15981568;16099181;16169070;16193250;16285929;16519679;16636244;16713569;16946708;17192963;17204048;17433680;17825047;17846170;18029348;18184345;18228241;18474935;18574937;18577525;18611984;18648326;18729234;18798829;19127114;19166838;19309729;19514047;19626675;19913121;19946639;19948975;20228473;20231114;20301344;20346670;2037285;20421627;20628086;20635151;20644219;20685272;20801043;20843780;21204525;21760538;21900206;21906983;21949239;21963094;21988832;22354993;22939624;23196502;23209425;23263591;23680132;23933738;24136222;24139022;24639526;24722188;24792155;7488138;7905855;8076686;8281152;8288237;8401505;8469976;8499920;9371827;9490724;9811941;9872056;9949207 1760 B4DM55;B4DZE2;E5KR05;E5KR06;E5KR07;I6L989;K7EQX1;M0QXJ9;M0QZ00;M0R1F3;M0R333;Q09013 AB209363;ABBA01040952;AC011530;AC074212;AK297299;AK302874;AK304749;AMYH02036208;AV655848;BC026328;BC062553;BG152972;BG706056;BP422066;BQ670576;CH471126;DC420602;HQ205626;HQ205627;HQ205628;HQ205629;HQ205630;HQ205631;HQ205632;HQ205633;HQ205634;HQ205635;HQ205636;HQ205637;HQ205638;HQ205639;HQ205640;HQ205641;HQ205642;HQ205643;HQ205644;HQ205645;HQ205646;HQ205647;HQ205648;HQ205649;HQ205650;HQ205651;HQ205652;HQ205653;HQ205654;HQ205655;HQ205656;HQ205657;HQ205658;HQ205659;HQ205660;HQ205661;HQ205662;HQ205663;HQ205664;HQ205665;HY031977;KJ534826;KJ534827;KJ534828;L00727;L08835;L19266;L19268;M87312;M94203;NG_009784;NM_001081560;NM_001081562;NM_001081563;NM_001288764;NM_001288765;NM_001288766;NM_004409;S72883;S86455;U46546 AAA36205;AAA36206;AAA64884;AAA75235;AAA75236;AAA75237;AAA75238;AAA75239;AAA75240;AAA87583;AAB31800;AAC14448;AAC14449;AAC14450;AAC14451;AAH26328;AAH62553;ADP91334;ADP91335;ADP91336;ADP91337;ADP91338;ADP91339;ADP91340;ADP91341;ADP91342;ADP91343;ADP91344;ADP91345;ADP91346;ADP91347;ADP91348;ADP91349;ADP91350;ADP91351;ADP91352;ADP91353;ADP91354;ADP91355;ADP91356;ADP91357;ADP91358;ADP91359;ADP91360;ADP91361;ADP91362;ADP91363;ADP91364;ADP91365;ADP91366;ADP91367;ADP91368;ADP91369;ADP91370;ADP91371;ADP91372;ADP91373;ADP91374;ADP91375;ADP91376;ADP91377;ADP91378;ADP91379;ADP91380;ADP91381;ADP91382;ADP91383;ADP91384;ADP91385;ADP91386;ADP91387;ADP91388;ADP91389;ADP91390;ADP91391;ADP91392;ADP91393;ADP91394;ADP91395;ADP91396;ADP91397;ADP91398;ADP91399;ADP91400;ADP91401;ADP91402;ADP91403;ADP91404;ADP91405;ADP91406;ADP91407;ADP91408;ADP91409;ADP91410;ADP91411;ADP91412;ADP91413;ADP91414;ADP91415;ADP91416;ADP91417;ADP91418;ADP91419;ADP91420;ADP91421;ADP91422;ADP91423;ADP91424;ADP91425;ADP91426;ADP91427;ADP91428;ADP91429;ADP91430;ADP91431;ADP91432;ADP91433;ADP91434;ADP91435;ADP91436;ADP91437;ADP91438;ADP91439;ADP91440;ADP91441;ADP91442;ADP91443;ADP91444;ADP91445;ADP91446;ADP91447;ADP91448;ADP91449;ADP91450;ADP91451;ADP91452;ADP91453;ADP91454;ADP91455;ADP91456;ADP91457;ADP91458;ADP91459;ADP91460;ADP91461;ADP91462;ADP91463;ADP91464;ADP91465;ADP91466;ADP91467;ADP91468;ADP91469;ADP91470;ADP91471;ADP91472;ADP91473;ADP91474;ADP91475;ADP91476;ADP91477;ADP91478;ADP91479;ADP91480;ADP91481;ADP91482;ADP91483;ADP91484;ADP91485;ADP91486;ADP91487;ADP91488;ADP91489;ADP91490;ADP91491;ADP91492;ADP91493;AHW56466;AHW56467;AHW56468;BAD92600;BAG59767;BAG64054;BAH14251;EAW57380;EAW57381;EAW57382;EAW57383;EAW57384;EAW57385;NP_001075029;NP_001075031;NP_001075032;NP_001275693;NP_001275694;NP_001275695;NP_004400;Q09013 Hs.631596 1681787;1722405;1729720;1730748;1741875;1741911;1742415;1742417;1745933;1791340;2130939;2132053;2156756;5491365 D19S201;D19S261;Dmpk;G15898;G60275;G64289;GDB:186209;GDB:186796;GDB:196904;GDB:196905;PMC104374P1;RH11440;RH75247;RH78049 DM;DM1;DM1PK;DMK;MDPK;MT-PK DM protein kinase;DM-kinase;DM1 protein kinase;myotonic dystrophy associated protein kinase;myotonic dystrophy protein kinase;myotonin protein kinase A;myotonin-protein kinase;thymopoietin homolog APPROVED protein-coding ENSG00000104936 HGNC:2933 05645 160900;605377 REVIEWED 1343593 DMRTA2 DMRT-like family A2 ENCODES a protein that exhibits metal ion binding (inferred); protein heterodimerization activity (inferred); protein homodimerization activity (inferred); INVOLVED IN cerebral cortex regionalization (inferred); dopaminergic neuron differentiation (inferred); neuron fate specification (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsane; arsenic atom; valproic acid 1 1 1 p32.3 49169119 49175035 - 50883223 50889119 - 50417551 50423447 - 1580863;6480464 11863363;12477932;8889548 63950 Q96SC8 ABBA01074829;AI492131;AJ301580;AL049637;AMYH02000990;BC136282;BC143800;BM675521;BQ941189;BU727085;CF242912;NM_032110 AAI36283;AAI43801;CAC37946;NP_115486;Q96SC8 Hs.334481 1742191;2189379 GDB:193196;MARC_3299-3300:991936989:5 OTTHUMP00000212959;OTTHUMP00000212960;doublesex- and mab-3-related transcription factor 5;doublesex- and mab-3-related transcription factor A2 protein-coding ENSG00000142700 HGNC:13908 614804 VALIDATED 1319169 DMRT2 doublesex and mab-3 related transcription factor 2 The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010] 9 9 9 p24.3 968351 975559 + 1049858 1057554 + 1046757 1057554 + 1580863;6480464;8554872 10332030;10729224;10857744;12477932;15342556;18821565;19850743;21732829 10655 Q05C20;Q5HYK2;Q9Y5R5 AA771859;ABBA01065449;AF130729;AF284221;AF284222;AF284223;AF284224;AF284225;AK290794;AL358976;AMYH02019034;BC030204;BC136493;BP274385;BX107686;BX647565;CH471071;NG_017051;NM_001130865;NM_006557;NM_181872;XM_005251351;XM_005251352;XM_005251354;XM_006716717;XM_006716718;Y19052 AAD40475;AAF86289;AAF86290;AAF86291;AAF86292;AAF86293;AAF86294;AAF86295;AAH30204;AAI36494;BAF83483;CAB59891;CAI46061;EAW58816;EAW58817;EAW58818;NP_001124337;NP_006548;NP_870987;Q9Y5R5;XP_005251408;XP_005251409;XP_005251411;XP_006716780;XP_006716781 Hs.59506 1697120;1735876;2218496 D9S999E;DMRT2__4752;RH102044 DSXL-2 OTTHUMP00000020964;OTTHUMP00000020965;OTTHUMP00000020966;OTTHUMP00000020967;doublesex- and mab-3-related transcription factor 2;doublesex-like 2 protein;terra-like protein APPROVED protein-coding ENSG00000173253 HGNC:2935 16079 604935 REVIEWED 2301775 DMRTC1B DMRT-like family C1B ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methoxyethanol (ortholog); ketamine (ortholog); potassium dichromate (ortholog) X X X q13.2 72408584 72412347 + 72064876 72068636 + 72777243 72848802 + 6480464 11863363;12477932;15489334;15772651 728656 A6QRF2;F6VT23;H0YDN8;Q5HYR2 AC240504;AJ291670;AMYH02039734;AMYH02039735;BC029799;BC047596;BX293538;BX295541;CH471213;NM_001080851;XM_006724684;XM_006724685;XM_006724686 AAH47596;CAC40653;CAI41255;CAI41256;CAI41258;CAO72055;EAW71832;NP_001074320;Q5HYR2;XP_006724747;XP_006724748;XP_006724749 Hs.712728 1667361;1697756;1789006;2186631 G65636;RH102401;RH48872;WI-14887 DMRTC1 DMRT-like family C1;OTTHUMP00000023550;OTTHUMP00000023551;OTTHUMP00000023553;OTTHUMP00000195133;OTTHUMP00000236432;doublesex- and mab-3-related transcription factor C1;doublesex-mab-3-like protein-coding ENSG00000184911 HGNC:31686 VALIDATED 1349847 DMRTB1 DMRT-like family B with proline-rich C-terminal, 1 ENCODES a protein that exhibits metal ion binding (inferred); sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p32.3 52212407 52220492 + 53925072 53933158 + 53459399 53467485 + 1580863;6480464;8554872 11863363;12477932;14702039;16189514;16713569;19060904;20339536 63948 B4DXR0;Q96MA1 ABBA01074739;AJ291671;AK057273;AK302085;AL365445;AMYH02001038;BC029566;CH471059;HC006928;HC044505;JC342811;NM_033067 AAH29566;BAB71407;BAG63472;CAC40654;CBH19269;CBH30582;CDM63604;EAX06735;EAX06736;NP_149056;Q96MA1 Hs.131654 1757837;1771704 AL009902;SHGC-146662 OTTHUMP00000009751;doublesex- and mab-3-related transcription factor B1 protein-coding ENSG00000143006 HGNC:13913 16828 614805 PROVISIONAL 1346508 DMRTC1 DMRT-like family C1 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine X X X q13.2 72408584 72412347 + 72091859 72163625 - 72872025 72943581 - 6480464 11863363;12477932;15489334;15772651;16712791 63947 G3V190;Q5HYR2 ABBA01046265;AC234776;AJ291670;AL353999;AMYH02039744;AV753283;AW205069;BC029799;BC047596;BI755761;CB121638;CH471213;NM_033053;XM_005262287;XM_005262288;XM_005262289;XR_244500 AAH47596;AAI60151;CAC40653;EAW71829;EAW71830;EAW71831;NP_149042;Q5HYR2;XP_005262344;XP_005262345;XP_005262346 Hs.558685;Hs.712728 2186631 RH48872 DMRTC1B OTTHUMP00000023556;OTTHUMP00000023557;OTTHUMP00000023558;doublesex- and mab-3-related transcription factor C1;doublesex-mab-3 protein-coding HGNC:13910 06491 300878 VALIDATED 1346083 DMWD dystrophia myotonica, WD repeat containing ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; cyclosporin A; disodium selenite 19 19 19 q13.3 43091314 43101110 - 46286205 46296060 - 45783006 45792802 - 1580863;6480464;8554872 10400997;11527424;11592825;12477932;1302022;14526185;15057824;15302935;16169070;16751776;19615732;21183687;21906983;21963094;22505724;25011449;7633444;7905855;8499920;8889548;9872056 1762 G5E9A7;H0YGU4;Q09019;Q8WUW6;R4GMW3;R4GMZ4;R4GN01 ABBA01040952;AC011530;AK309497;AMYH02036208;BC019266;BC041034;BG106514;BM922103;BQ189202;BT006798;BX283745;CD106470;CH471126;L08835;L19267;NM_004943 AAA35767;AAC14447;AAH19266;AAI56312;AAP35444;ADZ15881;EAW57386;EAW57387;NP_004934;Q09019 Hs.515474 1681787;1690394;2156756 RH75247;RH78049;RH93875 D19S593E;DMR-N9;DMRN9;gene59 OTTHUMP00000239990;OTTHUMP00000239991;dystrophia myotonica WD repeat-containing protein;dystrophia myotonica-containing wd repeat motif;protein 59 protein-coding ENSG00000185800 HGNC:2936 609857 VALIDATED 1314434 DMRT3 doublesex and mab-3 related transcription factor 3 ENCODES a protein that exhibits metal ion binding (inferred); protein heterodimerization activity (inferred); sequence-specific DNA binding (inferred); INVOLVED IN adult walking behavior (inferred); male sex differentiation (inferred); regulation of odontogenesis of dentin-containing tooth (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); trichostatin A; valproic acid 9 9 9 p24.3 894871 909644 + 976968 991732 + 976968 991732 + 1580863;6480464;8554872 10729223;11543627;11863363;12477932;15164053;15489334;20596660;23377640 58524 Q5W0Z5;Q9NQL9 ABBA01065450;AF193872;AF193873;AF217741;AI052121;AJ301581;AL136365;AMYH02019034;BC113584;BC117245;CH471071;NM_021240 AAF72594;AAF78891;AAF78892;AAI13585;AAI17246;CAC37947;EAW58819;NP_067063;Q9NQL9 Hs.189174;Hs.672740;Hs.744394 2218498 DMRT3__4753 DMRTA3;MGC142144 DMRT-like family A3;OTTHUMP00000020962;doublesex- and mab-3-related transcription factor 3;testis-specific protein protein-coding ENSG00000064218 HGNC:13909 16827 614754 VALIDATED 736177 DMTF1 cyclin D binding myb-like transcription factor 1 This gene encodes a transcription factor that contains a cyclin D-binding domain, three central Myb-like repeats, and two flanking acidic transactivation domains at the N- and C-termini. The encoded protein is induced by the oncogenic Ras signaling pathway and functions as a tumor suppressor by activating the transcription of ARF and thus the ARF-p53 pathway to arrest cell growth or induce apoptosis. It also activates the transcription of aminopeptidase N and may play a role in hematopoietic cell differentiation. The transcriptional activity of this protein is regulated by binding of D-cyclins. This gene is hemizygously deleted in approximately 40% of human non-small-cell lung cancer and is a potential prognostic and gene-therapy target for non-small-cell lung cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 7 7 7 q21 81486557 81530527 + 86781677 86825648 + 87152361 87196332 + 727758;1580863;6480464 10095122 12477932;12917399;14702039;15010895;15231748;16344560;17207965;17237816;17936562;17972942;18029348;18559489;18598225;20351715;20398657;22331460;22479309;23045280;23938323;24958102;8619474;8887674;9110174;9847074 9988 B3KMJ8;C9J4F7;C9J8Y5;C9JED5;C9JFR2;C9JGT5;C9JLR5;C9JVQ7;C9JZZ6;C9K0K9;C9K0L9;D6W5P0;E7EPA0;F8VXY9;H7C388;J3KRC1;J3QKU5;J3QLN9;J3QLW3;Q9Y222 AA258783;AB209230;ABBA01045869;AC005076;AF052102;AF084530;AF202144;AF202145;AK002073;AK057917;AK095828;AK123259;AK126664;AK295144;AK296211;AK314622;AMYH02016214;BC007418;BC007447;BC029370;BC070064;CH236949;CH471091;DB061156;DB069894;DC339431;EL736930;NG_029536;NM_001142326;NM_001142327;NM_021145;NR_024549;NR_024550;XM_005250734;XM_006716197;XM_006716198;XM_006716199;XM_006716200;XM_006716201;XM_006716202;XM_006716203;XM_006716204;XM_006716205;XM_006716206;XR_428190 AAC33480;AAD43181;AAG35613;AAG35614;AAH07418;AAH07447;AAH29370;AAH70064;BAD92467;BAG37188;BAG51010;BAG53884;BAG54353;BAG58163;BAG58937;EAW76962;EAW76963;EAW76964;EAW76965;NP_001135798;NP_001135799;NP_066968;Q9Y222;XP_005250791;XP_006716260;XP_006716261;XP_006716262;XP_006716263;XP_006716264;XP_006716265;XP_006716266;XP_006716267;XP_006716268;XP_006716269 Hs.196129 1654516;1725277;2120670;2126082;2166429 RH118922;RH65726;RH78780;SHGC-64937;STS-T90340 DMP1;DMTF;FLJ25188;FLJ41265;FLJ76054;MRUL;hDMP1;hDMTF1 OTTHUMP00000205130;OTTHUMP00000205131;OTTHUMP00000205239;OTTHUMP00000205282;cyclin D-binding Myb-like protein;cyclin D-binding Myb-like protein 1;cyclin-D-binding Myb-like transcription factor 1;cyclin-D-interacting Myb-like protein 1 APPROVED protein-coding ENSG00000135164 HGNC:14603 09770 608491 REVIEWED 1602406 DNAAF3 dynein, axonemal, assembly factor 3 The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 19 19 19 q13.4 52711225 52719212 - 55670029 55678090 - 55158661 55166722 - 6480464;7240710;8554872;8699517 12477932;14702039;16344560;20301301;21906983;22387996 352909 H0YCU4;H0YD30;M0R2L0;M0R359;Q8N9W5 ABBA01068119;AC010327;AK093458;AK093473;AK097388;AMYH02036453;AMYH02036454;AMYH02036455;AW182162;BC016843;BC063449;CH471135;DB093464;KF456609;NG_032759;NM_001256714;NM_001256715;NM_001256716;NM_178837 AAH16843;AAH63449;BAC04172;BAC04177;BAC05029;EAW72343;NP_001243643;NP_001243644;NP_001243645;NP_849159;Q8N9W5 Hs.351582 1752519 SHGC-106378 C19orf51;CILD2;DAB1;FLJ36139;FLJ40069;PCD;PF22 OTTHUMP00000158685;OTTHUMP00000158686;OTTHUMP00000158687;UPF0470 protein C19orf51;ciliary dyskinesia, primary 2;dynein assembly factor 3, axonemal;hypothetical protein LOC352909 APPROVED protein-coding ENSG00000167646 HGNC:30492 14185 606763;614566 REVIEWED 1347338 DMXL2 Dmx-like 2 This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 15 15 15 q21.2 28633317 28808362 - 51739921 51915030 - 51447724 51622833 - 1580863;6480464;8554872 10048485;11809763;12168954;12477932;12786944;15144186;16344560;17975119;19023099;20810660;21139048;24250222;24816145 23312 H0YLM8;H0YM41;H0YME1;Q8TDJ6 AA629921;AB020663;ABBA01039081;AC020892;AC066613;AF389880;AK000156;AK123284;AK129764;AMYH02030431;AMYH02030432;AMYH02030433;AMYH02030434;BC016032;BC022050;BC035883;BC140781;BC144539;BX491117;CH471082;DA484900;DB359904;NG_017155;NM_001174116;NM_001174117;NM_015263;XM_005254255;XM_005254256;XM_005254257;XM_005254258;XM_006720446;XR_243084;XR_243085 AAH22050;AAI40782;AAI44540;AAL93215;BAA74879;EAW77420;EAW77421;EAW77422;EAW77423;EAW77424;NP_001167587;NP_001167588;NP_056078;Q8TDJ6;XP_005254312;XP_005254313;XP_005254314;XP_005254315;XP_006720509 Hs.511386 1701300;1857712;2109749;2144681;2144683;5118444 A005R29;D11S3316;G20445;RC3__5662;RH104279;SHGC-32630 FLJ26672;KIAA0856;RC3 OTTHUMP00000162545;dmX-like protein 2;rabconnectin-3 APPROVED protein-coding ENSG00000104093 HGNC:2938 10188 612186 REVIEWED 1315606 DNA2 DNA replication helicase/nuclease 2 This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] 10 10 10 q21.3-q22.1 63449181 63507264 - 70173821 70231878 - 68414064 68472409 - 6480464;6907045;8694132;8699517;7240710;8554872;8662366 20690856;24389050 11473323;12477932;15164054;15489334;16595799;16595800;17032657;18593712;18995831;19487465;20019387;20131965;20379614;21139048;21890473;21906983;21963094;22570407;22570476;22678362;22987153;23000965;23352259;23503679;23891004;24250222;24332808;24778252;7788527;8938459 1763 F8VPM6;F8VR31;H0Y455;J3KPX5;P51530 ABBA01019566;ABBA01019567;AK307939;AK308333;AK308358;AL136233;AMYH02023252;AMYH02023253;AMYH02023254;BC017003;BC028188;BC041115;BC053574;BC063664;BC073945;BC111740;D42046;DC404138;NG_034247;NM_001080449;NR_102264;XM_006717680 AAH28188;AAH41115;AAH53574;AAH63664;AAI11741;BAA07647;NP_001073918;P51530;XP_006717743 Hs.532446 1731046;1731114;2133849;5127109 D10S2165;D10S274;D10S309;RH25311 DNA2L;FLJ10063;KIAA0083;MGC133297;PEOA6;SCKL8;hDNA2 DNA replication ATP-dependent helicase-like homolog;DNA replication ATP-dependent helicase/nuclease DNA2;DNA replication helicase 2 homolog;DNA2 (DNA replication helicase, yeast, homolog)-like;DNA2 DNA replication helicase 2-like;DNA2-like helicase;OTTHUMP00000019702;OTTHUMP00000242842;OTTHUMP00000242843 APPROVED protein-coding ENSG00000138346 HGNC:2939 601810;615156;615807 REVIEWED 1322873 DMTN dematin actin binding protein Dematin, or EPB49, is an actin-bundling protein originally identified in the erythroid membrane skeleton. Its actin-bundling activity is abolished upon phosphorylation by cAMP-dependent protein kinase and is restored after dephosphorylation (Rana et al., 1993 [PubMed 8341682]).[supplied by OMIM, Apr 2009] 8 8 8 p21.1 20873144 20902318 + 21906660 21940036 + 22049149 22082525 + 1580863;6480464 10565303;12011427;12477932;14623284;14660664;14702039;15489334;16169070;16344560;16697408;18029348;18347014;18541383;19030997;19241372;19953087;20396930;21832049;22927433;23060452;23355471;24255178;7615546;8341682;8608138 2039 B4DI75;E5RFK4;E5RFK6;E5RGQ0;E5RGQ7;E5RIG5;E5RJ56;E5RJ61;E5RJC0;Q08495 AB209718;ABBA01005500;ABBA01005501;ABBA01005502;AC091171;AK055842;AK091581;AK289650;AK295452;AK308807;AMYH02017587;AMYH02017588;BC006318;BC017445;BC052805;BI222385;BT007396;CH471080;DA170493;DA372459;DA521027;L19713;NM_001114135;NM_001114136;NM_001114137;NM_001114138;NM_001114139;NM_001978;U28389;XM_005273431;XM_005273432;XM_005273433;XM_005273434;XM_005273435;XM_005273436;XM_005273438;XM_005273439;XM_005273440;XM_005273441;XM_005273442;XM_005273443;XM_005273444;XM_005273445;XM_005273446;XM_006716300;XM_006716301 AAA58438;AAC50223;AAH06318;AAH17445;AAH52805;AAP36060;ABM83705;ABM87025;ACE87087;ACE87766;BAD92955;BAF82339;BAG51582;BAG52385;BAG58387;EAW63724;EAW63725;EAW63726;NP_001107607;NP_001107608;NP_001107609;NP_001107610;NP_001107611;NP_001969;Q08495;XP_005273488;XP_005273489;XP_005273490;XP_005273491;XP_005273492;XP_005273493;XP_005273495;XP_005273496;XP_005273497;XP_005273498;XP_005273499;XP_005273500;XP_005273501;XP_005273502;XP_005273503;XP_006716363;XP_006716364 Hs.106124 1335778;1660433;2115053;2172714 D8S1951;DXS8056;RH70272;WI-20118 DMT;EPB49;FLJ78462;FLJ98848 OTTHUMP00000122608;OTTHUMP00000224735;OTTHUMP00000224736;OTTHUMP00000224737;OTTHUMP00000224738;OTTHUMP00000224742;OTTHUMP00000224743;OTTHUMP00000224744;dematin;dematin actin-binding protein;erythrocyte membrane protein band 4.9 (dematin) APPROVED protein-coding ENSG00000158856 HGNC:3382 00506 125305 VALIDATED 1317027 DMXL1 Dmx-like 1 The protein encoded by this gene is a member of a superfamily of WD repeat proteins. The function of this protein is not yet determined; however, other related family members perform functions involved in regulatory processes. [provided by RefSeq, Jul 2008] 5 5 5 q22 114354305 114538495 + 118406839 118584822 + 119071108 119249127 + 1580863;6480464 10708522;12477932;14702039;15840729;18187620;18854154;21139048;21697133;23535033 1657 B2RWN7;E7EMZ0;F1T0K4;F5H269;Q9Y485 AB593142;ABBA01068977;ABBA01068978;ABBA01068979;ABBA01068980;ABBA01068981;ABBA01068982;AC027320;AC118465;AJ005821;AK126726;AMYH02012053;AMYH02012054;AMYH02012055;BC028004;BC144537;BC150616;BC171784;BM828759;BX649064;CH471086;NM_001290321;NM_001290322;NM_005509;XM_005271909;XM_005271910;XM_005271911;XM_005271912;XM_005271913;XM_006714560 AAH28004;AAI44538;AAI50617;BAJ84078;CAA06718;EAW48916;EAW48917;EAW48918;NP_001277250;NP_001277251;NP_005500;Q9Y485;XP_005271966;XP_005271967;XP_005271968;XP_005271969;XP_005271970;XP_006714623 Hs.181042 1651823;1698584;1993424;2120680;2154244;5024039;5037552;5094951 D16S325;D8S2279;DMXL1;REN67619;RH102844;SHGC-64872;STS-AA011504;WI-17881 DKFZp779O1239;FLJ44772 OTTHUMP00000159140;X-like 1 protein;dmX-like protein 1 APPROVED protein-coding ENSG00000172869 HGNC:2937 09294 605671 VALIDATED 1343402 DNAH1 dynein, axonemal, heavy chain 1 ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); microtubule motor activity (inferred); INVOLVED IN ATP catabolic process (inferred); cilium movement (inferred); PARTICIPATES IN Huntington disease pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN axonemal dynein complex (inferred); microtubule (inferred); INTERACTS WITH mercury atom; mercury(0); 2,6-dinitrotoluene (ortholog) 3 3 3 p21.1 52329658 52413835 + 52350335 52434513 + 52302896 52400497 + 1298890;6480464;6907045;8554872 8812413 10718198;14702039;18492703;19286658;19529763;21926972;23974872;24360805;9256245;9373155 25981 H7C506;H7C563;Q9P2D7 AB037831;AB290163;ABBA01024509;AC092045;AJ132083;AJ132094;AK023766;AK074130;AK125990;AL117428;AMYH02006800;AW016677;AY221994;CH471055;DN831799;KF459588;NM_015512;U61738;U83571;XM_006713100;Z83804 AAB82761;AAC50702;AAO43053;BAA92648;BAB14671;BAB84956;BAC86379;BAG06717;CAA10556;CAB06058;CAB46445;CAB55917;EAW65215;EAW65216;EAW65217;EAW65218;EAW65219;NP_056327;Q9P2D7;XP_006713163 Hs.655469 1337846;1648163;1700840;1759009;1768736;1776997;1846887;5113290 D3S3648;D3S3975;G27739;RH104046;RH65657;RH67921;RH91473;SHGC-150990 DNAHC1;HDHC7;HL-11;HL11;HSRF-1;XLHSRF-1 DNAH1 variant protein;OTTHUMP00000212848;axonemal beta dynein heavy chain 1;ciliary dynein heavy chain 1;dynein heavy chain 1, axonemal;dynein, axonemal, heavy polypeptide 1;heat shock regulated 1;heat shock regulated protein 1 protein-coding ENSG00000114841 HGNC:2940 11790 603332 VALIDATED 1606172 DNAAF1 dynein, axonemal, assembly factor 1 The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13.[provided by RefSeq, May 2010] 16 16 16 q24.1 68480658 68513333 + 84178865 84211524 + 84145260 84177918 + 6480464;8554872;8699517 12477932;14702039;15489334;16344560;18029348;18385425;19944400;19944405;20301301;21139048;23872636;24250222 123872 H3BNQ4;H3BP51;H3BV09;Q8NEP3 ABBA01016918;AC009123;AC040169;AK057238;AK058059;AK295990;AK310961;AL137334;AL833327;AL833328;AL833336;AMYH02032561;AMYH02032562;BC024009;BX648657;CH471114;DA349893;KF510423;NG_021174;NM_178452;XM_006721129;XM_006721130 AAH24009;BAB71392;BAB71645;BAG58765;CAH10390;CAH10394;CAH10706;EAW95500;EAW95501;NP_848547;Q8NEP3;XP_006721192;XP_006721193 Hs.310164 1663283;1769711;5016478;5021872;5022200;5022463;5022578;5022588;5022639;5024761;5037552;5109362 D11S2808;D17S1239;D1S1423;D3S1673;D5S1597E;D8S2279;GDB:434012;L18426;RH17650;RH36905;RH69603;sY3084 CILD13;DKFZp434A119;FLJ25330;LRRC50;ODA7 OTTHUMP00000158639;dynein assembly factor 1, axonemal;leucine rich repeat containing 50;leucine-rich repeat-containing protein 50;outer row dynein assembly 7 homolog APPROVED protein-coding ENSG00000154099 HGNC:30539 14023 613190 REVIEWED 733008 DNAH10 dynein, axonemal, heavy chain 10 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008] 12 12 12 q24.31 123843433 124020043 + 124246786 124420267 + 123762239 123935720 + 6480464;8554872 11175280;11181995;12477932;14702039;15937072;19936222;22479202;22589738;23382691;23989986 196385 B0I1S1;F5H515;H0YGZ2;Q8IVF4 AB095937;AB290168;ABBA01060388;ABBA01060389;ABBA01060390;ABBA01060391;ABBA01060392;ABBA01060393;AC079315;AC117503;AC208069;AI240003;AJ132089;AK091526;AK095581;AK125475;AK125796;AL046294;AMYH02027459;AMYH02027460;AMYH02027461;AMYH02027462;AMYH02027463;BC144575;BC150622;CH471054;DV080260;DV080370;DV080609;DV080705;NM_207437;XM_005253555 AAI44576;AAI50623;BAC04579;BAC23113;BAC86173;BAC86296;BAG06722;CAA10562;EAW98437;NP_997320;Q8IVF4;XP_005253612 Hs.622654 1660594;1665887;1732709;2153437 D12S837;G15665;WI-12439;WI-13960 FLJ38262;FLJ43486;FLJ43808;KIAA2017 DNAH10 variant protein;OTTHUMP00000205777;axonemal beta dynein heavy chain 10;ciliary dynein heavy chain 10;dynein heavy chain 10, axonemal;dynein, axonemal, heavy polypeptide 10 APPROVED protein-coding ENSG00000197653 HGNC:2941 13473;13477 605884 VALIDATED 1345316 DMRTC2 DMRT-like family C2 ENCODES a protein that exhibits metal ion binding (inferred); protein homodimerization activity (inferred); sequence-specific DNA binding (inferred); INVOLVED IN male meiosis I (inferred); positive regulation of histone H3-K9 dimethylation (inferred); positive regulation of histone H3-K9 trimethylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); XY body (inferred); INTERACTS WITH carmustine; temozolomide; bisphenol A (ortholog) 19 19 19 q13.2 39148773 39156084 + 42348806 42356398 + 41845001 41852330 + 1580863;6480464;8554872 11863363;12477932;14702039;15489334;16344560;20211142;21988832 63946 B4DX56;M0QZH7;M0R1Z9;M0R2D7;Q8IXT2 ABBA01040814;AC010616;AC243967;AJ291669;AK057404;AK301822;BC029202;BC039266;CH471126;DB026313;HC006930;HC044507;NM_001040283;XM_005259146;XM_005259148;XM_006723320;XM_006723321 AAH29202;AAH39266;ABZ92201;BAB71473;BAG63268;CAC40652;CBH19270;CBH30583;EAW57068;EAW57069;EAW57070;NP_001035373;Q8IXT2;XP_005259203;XP_005259205;XP_006723383;XP_006723384 Hs.350507 2107019 DMRTC2__4757 doublesex- and mab-3-related transcription factor C2 protein-coding ENSG00000142025 HGNC:13911 16829 614806 VALIDATED 1344286 DNAH13 dynein, axonemal, heavy polypeptide 13 1771 HGNC:2944 1604455 DNAH12L dynein, axonemal, heavy chain 12-like p14.3 17287340 375347 AC092418;AK126276;CD684932;CH471055;NM_198564 BAC86512;EAW65341;NP_940966;Q6ZTR8 Hs.669912 DNAH7L;FLJ44290 protein-coding HGNC:24780 13487 1321142 DNAAF2 dynein, axonemal, assembly factor 2 This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 14 14 14 q21.3 29951711 29961766 - 50091892 50101948 - 49625174 49635230 - 6480464;8554872;8699517 12477932;12508121;14702039;15489334;19052621;19953087;20301301;21832049;21890473;23872636;25036637 55172 Q9NVR5 ABBA01018111;ABBA01018112;ABBA01018113;AK001425;AL139099;AMYH02029149;BC011400;BC013322;BX092175;BX248264;BX248765;CH471078;FJ158843;NG_013070;NM_001083908;NM_018139 AAH11400;AAH13322;ACN30493;BAA91684;CAD62592;CAD66572;EAW65755;EAW65756;EAW65757;NP_001077377;NP_060609;Q9NVR5 Hs.231761 1335843;1774661;2157938 A005E12;D14S984;STS-AA025097 C14orf104;CILD10;FLJ10563;KTU;PF13 OTTHUMP00000178932;OTTHUMP00000197223;dynein assembly factor 2, axonemal;kintoun APPROVED protein-coding ENSG00000165506 HGNC:20188 12627 612517 REVIEWED 1350731 DNAH14 dynein, axonemal, heavy chain 14 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008] 1 1 1 q42.12 198307991 198777597 + 225117356 225586996 + 224929654 225399294 + 1298890;1580863;6480464;8554872 8812413 11181995;12477932;15146197;21832049;21890473;24250222 127602 H0YBB1;H0YBI3;H7BXS7;H7C164;H7C374;H7C3Z3;H9KV43;M9MMK7;Q0VDD8 ABBA01009674;ABBA01009675;ABBA01009676;ABBA01009677;AC092811;AC093560;AI076810;AL162738;AL357912;AL590547;AL596134;AL645769;AMYH02002780;AMYH02002781;AMYH02002782;AMYH02002783;AMYH02002784;AMYH02002785;BC017415;BC042869;BC119716;BC119717;CH471098;CN257875;CR936804;DB443048;KF455145;NM_001145154;NM_001373;NM_144989;U61741;XM_006711735 AAC50705;AAI19717;AAI19718;EAW69734;EAW69735;EAW69736;EAW69737;EAW69738;EAW69739;EAW69740;NP_001138626;NP_001364;NP_659426;Q0VDD8;XP_006711798 Hs.133977 1663546;1687181;1688285;1691982;1710000;1718665;1747973;1749337;1749753;2107371;2146693;2148841;2151037;2152797 AL009316;AL009836;AL009971;AL010017;AL010084;AL033643;G66815;MGC27277__7697;RH123020;RH92036;RH94064;SHGC-111097;SHGC-111509;SHGC-82269 C1orf67;DKFZp781B1548;Dnahc14;HL-18;HL18;MGC149665;MGC149666;MGC27277;MGC51214 OTTHUMP00000035885;OTTHUMP00000035888;OTTHUMP00000035889;OTTHUMP00000035890;OTTHUMP00000203911;OTTHUMP00000228298;axonemal beta dynein heavy chain 14;ciliary dynein heavy chain 14;dynein heavy chain 14, axonemal;dynein, axonemal, heavy polypeptide 14 APPROVED protein-coding ENSG00000185842 HGNC:2945 603341 VALIDATED 4143988 DNAH10OS dynein, axonemal, heavy chain 10 opposite strand 12 12 q24.31 124018415 124019307 - 122984592 122985484 - 19726446;19797681 642797 P0CZ25 AC079315;AK127211;XR_041541;XR_041542;XR_041543 Hs.728379 1660594;1660601;1665799;1772200 A004O46;STS-Z41302;WI-12439;WI-12482 FLJ45278 dynein, axonemal, heavy chain 10 opposite strand (non-protein coding) protein-coding HGNC:37121 1603257 DNAH12 dynein, axonemal, heavy chain 12 ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); microtubule motor activity (inferred); INVOLVED IN ATP catabolic process (inferred); metabolic process (inferred); microtubule-based movement (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cilium (inferred); cytoplasm (inferred); dynein complex (inferred); INTERACTS WITH benzo[a]pyrene; 1-naphthyl isothiocyanate (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 p14.3 57293347 57543862 - 57327727 57530071 - 57293699 57544344 - 6480464;8554872 11181995;14702039;16641997;17173037;17283181;17287340;19174780;19422935;20379614;20886065;22219177;8666668;8812413;9256245;9373155 201625 E9PG32;H7C5N3;H7C5S4;J3QTM1;Q6ZR08 ABBA01024416;ABBA01024417;ABBA01024418;ABBA01024419;ABBA01024420;ABBA01024421;ABBA01024422;AC092418;AC093928;AC121250;AC231288;AC232304;AK097746;AK126276;AK128592;AMYH02006864;AMYH02006865;AMYH02006866;AMYH02006867;AMYH02006868;AMYH02006869;AMYH02006870;AMYH02006871;AMYH02006872;CD684932;CD708076;CH471055;NM_001291661;NM_178504;NM_198564;U53532;U61739;U83573;XM_006713018;Z83802 AAB09729;AAB82762;AAC50703;BAC05158;BAC86512;BAC87517;CAB06056;EAW65339;EAW65340;EAW65341;NP_001278590;NP_848599;NP_940966;Q6ZR08;XP_006713081 Hs.201378 DHC3;DLP12;DNAH12L;DNAH7L;DNAHC12;DNAHC3;DNHD2;FLJ40427;FLJ44290;HDHC3;HL-19;HL19 OTTHUMP00000213132;OTTHUMP00000213134;axonemal beta dynein heavy chain 12;axonemal dynein heavy chain isotype3;ciliary dynein heavy chain 12;dynein heavy chain 12, axonemal;dynein heavy chain domain-containing protein 2;dynein, axonemal, heavy chain 12-like;dynein, axonemal, heavy chain 7-like;dynein, axonemal, heavy polypeptide 12;dynein, heavy chain-5 protein-coding ENSG00000174844 HGNC:2943 08281 603340 VALIDATED 7244763 DNAH17-AS1 DNAH17 antisense RNA 1 17 17 76480992 76499138 + 78484910 78503056 + 12477932 100996295 ABBA01002921;AC016182;AK127460;AMYH02034059;BC014121;BC033171;BG331155;BQ919011;NR_102401 BAC86989 Hs.615304;Hs.636710;Hs.638630 5037552 D8S2279 RP11-559N14.5 ncrna HGNC:48594 VALIDATED 1317528 DNAH7 dynein, axonemal, heavy chain 7 DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008] 2 2 2 q32.3 190358292 190689358 - 196602427 196933536 - 195737703 196068812 - 727749;6480464;8554872 9373155 10231032;11877439;12477932;14702039;15342556;20379614;20467438;22505724;23314748 56171 C9JUY3;H7C362;Q8WXX0 AB023161;ABBA01062450;ABBA01062451;AC013274;AC068919;AC104600;AC114760;AF327442;AJ132084;AJ132093;AK094515;AMYH02005500;AMYH02005501;AMYH02005502;AMYH02005503;BC029567;BP199399;BX117789;CH471063;CR749651;NM_018897;Z83801 AAH29567;AAL37427;AAY14776;AAY14981;AAY14995;AAY24051;BAA76788;BAC04372;CAA10557;CAB06055;CAB46444;CAH18445;EAW70120;EAW70121;NP_061720;Q8WXX0 Hs.97403 1691068;1715145;2218766;5022200;5024413;5037552 D8S2279;DNAH7__4760;L17877;L18426;RH119823;RH92946 DKFZp686C09101;FLJ37196;KIAA0944;MGC39580;hDHC2 OTTHUMP00000205669;axonemal beta dynein heavy chain 7;axonemal dynein heavy chain 7;ciliary dynein heavy chain 7;dynein heavy chain 7, axonemal;dynein heavy chain-like protein 2;dynein, axonemal, heavy polypeptide 7 APPROVED protein-coding ENSG00000118997 HGNC:18661 10914 610061 VALIDATED 1343596 DNAH2 dynein, axonemal, heavy chain 2 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008] 17 17 17 p13.1 7649403 7763686 + 7620631 7737058 + 7717313 7833740 + 1580863;6480464;6907045;8554872 10819331;12107411;12477932;19430480;21145461;21182205;24250222;9256245 146754 I3L4H9;I3L520;Q9P225 AB040936;ABBA01054883;ABBA01054884;ABBA01054885;ABBA01054886;ABBA01054887;AC025335;AC087388;AK128517;AK292607;AMYH02032911;AMYH02032912;AMYH02032913;AMYH02032914;AMYH02032915;BC034225;BQ638815;BX648163;CH471108;NM_020877;U83570;XM_005256470 AAB82760;AAH34225;BAA96027;BAF85296;EAW90129;EAW90130;EAW90131;NP_065928;Q9P225;XP_005256527 Hs.367649 1335868;1652547;1667736;2184946;5020948 D17S655;D17S720;G35510;SGC30770;SHGC-57535 DNAHC2;DNHD3;FLJ46675;KIAA1503 axonemal beta dynein heavy chain 2;ciliary dynein heavy chain 2;dynein heavy chain 2, axonemal;dynein heavy chain domain 3;dynein heavy chain domain-containing protein 3;dynein, axonemal, heavy chain-2;dynein, axonemal, heavy polypeptide 2 APPROVED protein-coding ENSG00000183914 HGNC:2948 17214 603333 VALIDATED 1345551 DNAH17 dynein, axonemal, heavy chain 17 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008] 17 17 17 q25.3 73013986 73169157 - 76419778 76573476 - 78423697 78577394 - 1580863;6480464 11181995;12477932;14702039;15822942;19240061;25036637;9373155;9545504 8632 K7EK91;K7ELN3;Q9UFH2 AB290170;ABBA01002919;ABBA01002920;ABBA01002921;ABBA01002922;ABBA01002923;ABBA01002924;AC016182;AC061992;AJ000522;AK097776;AK126059;AK128065;AL122077;AL832652;AMYH02034055;AMYH02034056;AMYH02034057;AMYH02034058;AMYH02034059;AMYH02034060;AMYH02034061;AMYH02034062;AMYH02034063;AMYH02034064;BC105107;BC112284;CH471099;KF510431;NM_173628 BAC05170;BAG06724;CAA04165;CAB59252;EAW89527;EAW89528;NP_775899;Q9UFH2 Hs.375975 1700156;1739177;1765669;1770338;1783544;5015961;5124339 D15S1477;D17S1637;RH103691;RH18538;RH98785;SHGC-149110;SHGC-154024 DNAHL1;DNEL2;FLJ40457;MGC132767;MGC138489 OTTHUMP00000197862;axonemal beta dynein heavy chain 17;axonemal dynein heavy chain;axonemal dynein heavy chain-like protein 1;ciliary dynein heavy chain 17;ciliary dynein heavy chain-like protein 1;dynein heavy chain 17, axonemal;dynein light chain 2, axonemal;dynein, axonemal, heavy chain like 1;dynein, axonemal, heavy like 1;dynein, axonemal, heavy polypeptide 17 APPROVED protein-coding ENSG00000187775 HGNC:2946 16830 610063 PROVISIONAL 1314138 DNAH3 dynein, axonemal, heavy chain 3 ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN metabolic process (inferred); microtubule-based movement (inferred); PARTICIPATES IN Huntington disease pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN microtubule (inferred); INTERACTS WITH 3,3',4,4'-tetrachlorobiphenyl; benzo[a]pyrene diol epoxide I; fonofos 16 16 16 p12.3 20254356 20480595 - 20944476 21170762 - 20933111 21159441 - 727749;6480464;6907045;8554872 9373155 10493829;11175280;12477932;14702039;17620599;20379614;22610502;9256245;9556328 55567 Q8TD57;Q9H5D3 ABBA01028288;ABBA01028289;ABBA01028290;ABBA01028291;ABBA01028292;ABBA01028293;AC002394;AC008551;AC105410;AF494040;AJ132085;AJ132092;AK056509;AK125907;AK125952;AK303958;AK310973;AL096732;AMYH02031668;AMYH02031669;AMYH02031670;AMYH02031671;AMYH02031672;AMYH02031673;BC019878;CH471228;EU668352;KC877597;KF456166;KF511227;NM_017539;U83574;XM_006721062;Z83805 AAB82763;AAC05809;AAH19878;AAM12861;ACF94505;BAE46616;BAG64883;CAA10558;CAA10565;CAB06059;CAB46377;EAW66850;EAW66851;EAW66852;EAW66853;NP_060009;Q8TD57;XP_006721125 Hs.526500 1338653;1338654;1733714;1738695;2158142 D16S2805;D16S3045;D16S734;D16S772;D2S1259 DKFZp434N074;DLP3;DNAHC3B;FLJ31947;FLJ43919;FLJ43964;HEL-36;Hsadhc3 OTTHUMP00000115845;axonemal beta dynein heavy chain 3;axonemal dynein, heavy chain;ciliary dynein heavy chain 3;dnahc3-b;dynein heavy chain 3, axonemal;dynein, axonemal, heavy polypeptide 3;epididymis luminal protein 36 protein-coding ENSG00000158486 HGNC:2949 04513 603334 PROVISIONAL 1604960 DNAHL1 dynein, axonemal, heavy chain like 1 q25.3 12477932;14702039 284176 AC016182;AK097776;BC105107;BC112284;NM_173628 AAI05108;AAI12285;BAC05170;NP_775899;Q2M2Y1;Q8N7Q7 Hs.375975 FLJ40457;MGC138489 protein-coding HGNC:26872 08283 1347757 DNAH6 dynein, axonemal, heavy chain 6 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH6 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008] 2 2 2 p11.2 84572707 84875501 + 84743579 85046713 + 84516455 84819589 + 1298890;6480464;8554872 8812413 11175280;11181995;11214970;12477932;14702039;15937072;22505724;24515614 1768 Q9C0G6 AB051484;AB290165;ABBA01075724;ABBA01075725;ABBA01075726;ABBA01075727;AC010087;AC096770;AC098975;AC109827;AJ132086;AK027182;AK094676;AL512706;AMYH02004158;BC015442;BC104884;BC113424;BC117259;BC143365;BC143666;CH471053;NM_001370;U61736;XM_006711956 AAC50700;AAH15442;AAI04885;AAI13425;AAI17260;AAI43667;AAX93108;AAX93115;AAY24108;ADZ16102;BAB15685;BAB21788;BAC04400;BAG06719;CAA10559;CAC21651;EAW99556;EAW99557;NP_001361;Q9C0G6;XP_006712019 Hs.249972 1334738;1335358;1341370;1651052;1680359;1696280;1755551;1765665;1773639;2166644 D2S2041;D2S210E;D2S2371;D2S394;D2S440;RH28433;SHGC-142405;SHGC-149107;SHGC-83772;UniSTS:4617 DKFZp667K087;DNHL1;Dnahc6;FLJ23529;FLJ37357;HL-2;HL2;KIAA1697;MGC132544;MGC141984;MGC177197 OTTHUMP00000202725;axonemal beta dynein heavy chain 6;ciliary dynein heavy chain 6;dynein heavy chain 6, axonemal;dynein heavy chain-like 1;dynein, axonemal, heavy polypeptide 6 APPROVED protein-coding ENSG00000115423 HGNC:2951 603336 VALIDATED 1348566 DNAH11 dynein, axonemal, heavy chain 11 This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013] 7 7 7 p21 21568334 21927147 + 21582833 21941451 + 21543215 21901568 + 1580863;734893;6480464;7240710;8554872;8699517 12142464 10737800;12853948;14702039;15304525;15375157;18022865;18492703;19060911;19410201;20301301;20379614;20513915;20686565;21116278;21906983;22120009;22184204;23103227;23502783;24097068;24360805;24468470;9256245;9325061 8701 H9NAJ7;H9NAJ8;Q96DT5;Q96NT7;U3KQJ8;U3KQN2 ABBA01056683;ABBA01056684;ABBA01056685;ABBA01056686;AC004002;AC004595;AC005078;AC013481;AC073102;AC099653;AC102952;AI743846;AJ132087;AJ320497;AK054657;AK095018;AL529367;AMYH02015344;AMYH02015345;AMYH02015346;BF369731;BQ365981;CA424782;CH236948;CH471073;JQ247523;JQ247524;NG_012886;NM_001277115;U83569 AAB82759;AAB96346;AAC78616;AAS07433;AAS07505;AFF19589;AFF19590;BAB70785;CAA10560;CAC60121;EAW93736;EAW93737;EAW93738;EAW93739;NP_001264044;Q96DT5 Hs.520245;Hs.744069 1336288;1664958;1670549;1670950;1688793;1688809;1691396;1694854;1700650;2137215;2137585;2145170;2145309;2161668;2178477;2184234;7186699 D7S1868;D7S1895;D7S2336;D7S2710;D7S2813;D7S493;D7S729;D7S772;G42095;G44296;GDB:1317676;RH103948;RH15622;RH65966;RH75427;SHGC-63627 CILD7;DNAHBL;DNAHC11;DNHBL;DPL11;FLJ30095;FLJ37699 OTTHUMP00000201866;axonemal beta dynein heavy chain 11;axonemal dynein heavy chain 11;ciliary dynein heavy chain 11;dynein heavy chain 11, axonemal;dynein, axonemal, heavy polypeptide 11;dynein, ciliary, heavy chain 11;dynein, heavy chain beta-like APPROVED protein-coding ENSG00000105877 HGNC:2942 09134 603339;611884 REVIEWED 1348996 DNAH8 dynein, axonemal, heavy chain 8 The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012] 6 6 6 p21.2 40244058 40551978 + 38683117 38998574 + 38715341 39030798 + 727749;6480464;8554872 9373155 12297094;14574404;14702039;17081983;18649358;19460752;19536151;8812413;9256245 1769 H0Y7V4;H3BLZ4;Q8IU65;Q96JB1 ABBA01038305;ABBA01038306;ABBA01038307;AF356519;AF527621;AF527622;AF527623;AJ132091;AK093434;AK093653;AK098716;AL034345;AL035555;AL035690;AL042262;AL353700;AL391415;AMYH02013584;AMYH02013585;AMYH02013586;AW503176;CH471081;KF458149;KF458154;NM_001206927;XM_006715004;Z83806 AAK60620;AAN34632;AAN34633;AAN34634;CAA10564;CAB06060;EAX03966;EAX03967;NP_001193856;Q96JB1;XP_006715067 Hs.520106;Hs.686107 1338684;1660242;1680529;1694154;1694156;1694188;1694230;1701324;1705194;2156375 AL035181;AL035182;AL035191;AL035204;D6S1019;RH104292;RH37567;RH66536;RH99051;SHGC-80048 FLJ25850;FLJ36115;FLJ36334;hdhc9 ATPase;OTTHUMP00000017871;OTTHUMP00000017872;OTTHUMP00000017873;axonemal beta dynein heavy chain 8;ciliary dynein heavy chain 8;dynein heavy chain 8, axonemal;dynein, axonemal, heavy polypeptide 8 APPROVED protein-coding ENSG00000124721 HGNC:2952 04515 603337 VALIDATED 1346895 DNAI1 dynein, axonemal, intermediate chain 1 This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 9 p13.3 34390311 34452482 + 34458750 34520987 + 34458752 34520989 + 1601083;1580863;6480464;6907045;7240710;8554872;8699517 11231901 10577904;11713099;11889140;11893720;12477932;12509440;14702039;15164053;15489334;1601418;16344560;16858015;18434704;18492703;19300264;20301301;20379614;21143860;21953912;24250222 27019 B7Z7U1;H0Y6V0;H0YDT9;Q5T8G8;Q9UI46 ABBA01065011;AF091619;AF190496;AI784188;AK057687;AK290696;AK302186;AK303937;AK314639;AL117535;AL160270;AMYH02019448;AMYH02019449;BC030583;BM013886;CH471071;DB033871;DB046118;NG_008127;NM_001281428;NM_012144;XM_006716755;XM_006716756;XM_006716757;XM_006716758 AAF18570;AAF19816;AAH30583;ABM92226;ABW03682;BAF83385;BAG37201;BAG63551;BAG64865;EAW58453;NP_001268357;NP_036276;Q9UI46;XP_006716818;XP_006716819;XP_006716820;XP_006716821 Hs.112667 1661457;1700924;2122772;2139824;2139826 A008P35;RH104089;RH18227;SHGC-32160;SHGC-33703 CILD1;DIC1;ICS;ICS1;MGC26204;PCD OTTHUMP00000021280;axonemal dynein intermediate chain 1;dynein intermediate chain 1, axonemal;dynein intermediate chain DNAI1;dynein, axonemal, intermediate polypeptide 1;immotile cilia syndrome 1 APPROVED protein-coding ENSG00000122735 HGNC:2954 05080 244400;604366 REVIEWED 4889648 DNAJA1P2 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 2 2 2 2 q23.3 148232039 148233547 - 154617801 154619309 - 153761288 153762796 - 100131207 ABBA01004806;AC092584;AMYH02005010;NG_021529 pseudo HGNC:39338 INFERRED 4889716 DNAJA1P1 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 1 13 13 13 q21.1 40283140 40284581 - 59325048 59326489 - 58750914 58752355 - 100129308 ABBA01037005;AL354807;AMYH02028123;NG_011453 pseudo HGNC:39337 INFERRED 1347605 DNAI2 dynein, axonemal, intermediate chain 2 The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010] 17 17 17 q25 68862977 68903740 + 72270386 72311023 + 74274247 74314884 + 1580863;6480464;6907045;7240710;8554872;8699517 11153919;12477932;18950741;20301301;20379614;21130836;21953912 64446 J3KT23;J3QRG2;Q4G115;Q9GZS0 ABBA01028841;ABBA01028842;ABBA01028843;ABBA01028844;AC103809;AF250288;AF253088;AF253089;AF253090;AF253091;AF253092;AF253093;AF253094;AF253095;AF253096;AF253097;AF260782;AJ295276;AL137526;AMYH02033974;AMYH02033975;BC033013;BC039582;BG723530;BI462861;BI464166;CH471099;DB514781;NG_016865;NM_001172810;NM_023036;XM_005257578;XR_429915;XR_429916 AAG38000;AAG38489;AAH33013;AAH39582;ADR82641;CAB70790;CAC17464;EAW89144;EAW89145;EAW89146;EAW89147;EAW89148;EAW89149;NP_001166281;NP_075462;Q9GZS0;XP_005257635 Hs.147472 1765775;2181244 G19286;SHGC-149208 CILD9;DIC2 dynein intermediate chain 2, axonemal;dynein, axonemal, intermediate polypeptide 2 APPROVED protein-coding ENSG00000171595 HGNC:18744 12019 605483;612444 REVIEWED 4889692 DNAJA1P3 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 3 X X X q22.3 107066075 107067562 - 106594717 106596204 - 107351487 107352974 - 644588 ABBA01035885;AC004081;AMYH02040212;NG_022628 1792530 PMC153017P1 pseudo HGNC:39339 INFERRED 1348406 DNAH5 dynein, axonemal, heavy chain 5 This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009] 5 5 5 p15.2 13715619 13969162 - 13690437 14011841 - 13690328 14011732 - 1580863;1601080;6480464;7240710;8554872;8699517 11788826 10997877;11062149;14702039;15845866;16492982;16627867;17903303;18492703;19300264;19357118;19410201;20220176;20301301;20978832;22036096;22219177;22589738;23322567;23678272;6221120;8812413;8889548;9256245;9373155 1767 Q8NEX4;Q8TE73 AB046823;AB290164;ABBA01020630;ABBA01020631;ABBA01020632;ABBA01020633;ABBA01020634;AC016546;AC016576;AC026811;AC034251;AK026756;AK055138;AK128600;AMYH02010888;AY045575;AY049075;AY050643;CA314998;CH471102;KF457859;NG_013081;NM_001369;U61735;XM_005248262 AAC50699;AAK92217;AAL06603;AAL14192;BAB13429;BAB15543;BAG06718;EAX08050;NP_001360;Q8TE73;XP_005248319 Hs.212360 1708866;1748559;1852892;2172825;2184757;5017821 D5S2866;D5S2890;DNAH5;L28342;SHGC-110163;SHGC-83930 CILD3;DNAHC5;FLJ46759;HL1;KIAA1603;KTGNR;PCD OTTHUMP00000115635;axonemal beta dynein heavy chain 5;ciliary dynein heavy chain 5;dynein heavy chain 5, axonemal;dynein, axonemal, heavy polypeptide 5 APPROVED protein-coding ENSG00000039139 HGNC:2950 04514 603335;608644 REVIEWED 4889633 DNAJA1P6 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 6 22 22 22 1619286 1620725 - 17996870 17998309 - 17517835 17519277 - 100421542 ABBA01001447;AC004019;AC007666;AMYH02037999;NG_027411;NG_033989 pseudo HGNC:39342 INFERRED 734413 DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1 ENCODES a protein that exhibits chaperone binding; G-protein coupled receptor binding; Hsp70 protein binding; INVOLVED IN negative regulation of apoptotic process; negative regulation of JUN kinase activity; negative regulation of protein ubiquitination; PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN cytosol; extracellular vesicular exosome; membrane; INTERACTS WITH 17beta-estradiol; 2-methylcholine; afimoxifene 9 9 9 p13.3 32956506 32970354 + 33025209 33039905 + 33025211 33039064 + 1580863;6480464;6907045 10075921;10816573;10942430;11146634;11147971;11796717;11809754;12150907;12417652;12477932;12974469;14532270;14667819;14752510;15082773;15231747;15280358;15489334;15592455;15595953;15635413;15661747;16159877;16169070;16196087;16225871;16236267;16458196;17110338;17353931;17569659;18029348;18684711;18781797;19056867;19167051;19380743;19471022;19826009;19940115;19946888;20360068;20363747;20462248;20473970;20639865;20697350;20800603;21081666;21110914;21139048;21145461;21360678;21565611;21693764;21726808;21890473;21900206;21906983;21907836;21942715;21963094;21987572;21988832;21999493;22053931;22079093;22268729;22343013;22404213;22505724;22586326;22863883;22939629;22990118;23000965;23349634;23398456;23402259;23431407;23438482;23443559;23667531;23703321;23752268;23862649;23956138;24047968;24244333;24318877;24337577;24457600;24512202;24654937;24816145;25015289;25036637;8334160;8334161;9192730;9839446;9915854 3301 B7Z5C0;P31689 ABBA01065072;AJ277242;AK289623;AK298725;AL162590;AMYH02019414;AY186741;BC008182;BI462555;BT007292;CH471071;D13388;L08069;NM_001539 AAC37517;AAH08182;AAO31694;AAP35956;ABM82017;ABW03357;BAA02656;BAF82312;BAH12856;CAB93148;EAW58524;EAW58525;EAW58526;EAW58527;NP_001530;P31689 Hs.445203 1792530;2119955;2133967 D9S2046;D9S2102;PMC153017P1 DJ-2;DjA1;HDJ2;HSDJ;HSJ-2;HSJ2;HSPF4;NEDD7;hDJ-2 OTTHUMP00000021193;dnaJ homolog subfamily A member 1;dnaJ protein homolog 2;heat shock 40 kDa protein 4;heat shock protein J2;heat shock protein, DNAJ-like 2;human DnaJ protein 2;neural precursor cell expressed, developmentally down-regulated 7 protein-coding HGNC:5229 04159 602837 VALIDATED 4889687 DNAJA1P4 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 4 6 6 6 q22.1 115412076 115413247 - 114670650 114671821 - 114349486 114350657 - 728614 ABBA01026060;AL021327;AMYH02014334;NG_022322 1706108;2145548 SHGC-36881;SHGC-80092 pseudo HGNC:39340 INFERRED 4889634 DNAJA1P5 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 5 1 1 1 p22 100601224 100623956 + 102337568 102360299 + 101872012 101894743 + 16196087 94236 Q96RF1 ABBA01045421;AF395440;AL356280;AMYH02001572;NR_033424 AAK73122 Hs.606193 HEJ1 pseudo HGNC:39341 VALIDATED 1313302 DNAH9 dynein, axonemal, heavy chain 9 This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 p12 11532499 11903633 + 11501748 11873065 + 11598431 11969748 + 6480464;8554872 10393427;11104725;11175280;11247663;11839535;12477932;14702039;15845866;16147992;20379614;23049088;8703119;8812413;9205841 1770 E7EP17;J3QLM9;J3QQK8;K7EMX3;K7EP21;Q99499;Q9NYC9 AB002355;AB290158;ABBA01054995;ABBA01054996;ABBA01054997;ABBA01054998;ABBA01054999;AC005209;AC005410;AC005701;AF015265;AF257737;AJ132088;AJ404468;AK055990;AK302009;AK310137;AMYH02032985;AMYH02032986;AMYH02032987;AMYH02032988;AMYH02032989;AMYH02032990;AMYH02032991;AMYH02032992;AMYH02032993;AMYH02032994;AMYH02032995;BC128261;BC128421;BC153883;CH471108;NM_001372;NM_004662;U61740;X99947;XM_006721465;XM_006721466;XM_006721467 AAC27542;AAC50704;AAF69004;AAI28262;AAI28422;AAI53884;BAA21573;BAG06712;BAH13606;CAA10561;CAA68207;CAB94756;EAW89978;EAW89979;EAW89980;EAW89981;EAW89982;EAW89983;NP_001363;NP_004653;Q9NYC9;XP_006721528;XP_006721529;XP_006721530 Hs.567259 1335999;1338657;1682035;1718583;1774609;1783456;2163223;2168250 D17S676;D17S969;G10683;G17965;RH122496;RH92236;SHGC-106903;STS-X99947 DNAH17L;DNEL1;DYH9;Dnahc9;HL-20;HL20;KIAA0357 DNAH9 variant protein;OTTHUMP00000160924;OTTHUMP00000160925;OTTHUMP00000160926;axonemal beta dynein heavy chain 9;ciliary dynein heavy chain 9;dynein heavy chain 9, axonemal;dynein, axonemal, heavy polypeptide 17-like;dynein, axonemal, heavy polypeptide 9 APPROVED protein-coding ENSG00000007174 HGNC:2953 04511 603330 REVIEWED 1312336 DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 ENCODES a protein that exhibits ATPase activator activity; ATPase binding; chaperone binding; INVOLVED IN chaperone cofactor-dependent protein refolding; negative regulation of inclusion body assembly; positive regulation of ATPase activity; PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN cytosol; extracellular vesicular exosome; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-(2,6-dioxopiperidin-3-yl)-1H-isoindole-1,3(2H)-dione 19 19 19 p13.2 14519709 14523328 - 14625581 14640087 - 14514769 14529356 - 1580863;6480464;6907045 10075921;10330192;10593983;10811660;10816573;11093761;11147971;11457725;11500375;11809754;11821413;12150907;12417652;12477932;14499622;14503850;14702039;14743183;14752510;15075330;15194794;15362566;15489334;1586970;16009940;16179353;16196087;16842747;16919237;17012257;17024176;1754405;17601350;18032501;18187620;18211704;18457437;18620420;18624398;18977241;19056867;19254810;19615732;19738201;19779646;19901540;20026329;20084477;20360068;20516149;20562859;20735358;20801936;20809635;20811636;20885985;21044950;21124777;21139048;21139202;21145461;21163940;21249176;21480956;21639839;21698289;21763498;21832049;21890473;21906983;21987572;22022600;22075554;22505724;22779921;22863883;22990118;23000965;23395854;23400395;23482560;23962724;24047968;24091676;24196953;24255178;24318877;24361594;24578576;24816145;25036637;8250930;8670798;8764402;8975727;9499401;9545528;9727490;9920933 3337 M0QXK0;M0QYT3;M0QZD0;M0R080;M0R128;M0R1D6;M0R2Y8;P25685;Q6FHS4 ABBA01029664;AC009004;AC012318;AK092989;AK301817;AK312624;AMYH02035621;BC002352;BC013157;BC019827;BM795601;CH471106;CR536485;CR541677;D49547;D85429;DA377896;DB454482;HY032238;HY042250;JA462410;NM_001300914;NM_006145;X62421;XM_006722733;XM_006722734;XM_006722735;XM_006722736 AAH02352;AAH19827;BAA08495;BAA12819;BAG35510;BAG63264;CAA44287;CAG38724;CAG46478;CCD35253;EAW84432;EAW84433;NP_001287843;NP_006136;P25685;XP_006722796;XP_006722797;XP_006722798;XP_006722799 Hs.515210 2137292;5095923 RH11583;SHGC-11979 HSPF1;Hdj1;Hsp40;RSPH16B;Sis1;hDj-1 DnaJ (Hsp40) homolog, subfmaily B, member 1;dnaJ homolog subfamily B member 1;dnaJ protein homolog 1;heat shock 40 kDa protein 1;heat shock 40kD protein 1;heat shock protein 40;human DnaJ protein 1;radial spoke 16 homolog B protein-coding ENSG00000132002 HGNC:5270 05198 604572 VALIDATED 1320703 DNAJA4 DnaJ (Hsp40) homolog, subfamily A, member 4 ENCODES a protein that exhibits chaperone binding; unfolded protein binding; INVOLVED IN negative regulation of inclusion body assembly; protein refolding; FOUND IN cytosol; membrane; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; copper atom 15 15 15 q25.1 55492988 55511050 + 78556487 78574538 + 78264145 78282196 + 6480464 11147971;12477932;14702039;15489334;16196087;16344560;18654987;19940115;20360068;21110914;21890473;23000965;25036637 55466 C9JDE6;F5GWV1;F5H170;F5H300;F8WF76;Q69YX3;Q8WW22 ABBA01060582;AC090607;AF116663;AF173388;AK025069;AK090898;AK096616;AK098079;AL133096;AL133431;AL133432;AL133433;AL133434;AMYH02030861;BC021720;BC031044;BX648710;CH471136;DA561365;DB047940;NM_001130182;NM_001130183;NM_018602;XM_005254535;XM_006720601 AAF71083;AAH21720;AAH31044;AAQ13629;BAC03540;BAC04828;BAC05229;CAH10558;CAH10713;EAW99176;EAW99177;EAW99178;EAW99179;NP_001123654;NP_001123655;NP_061072;Q8WW22;XP_005254592;XP_006720664 Hs.513053 1671269;1736528;1767095;1847004;2164678;2164680;2217266 A002B35;A007H23;D15S706E;D15S731E;DNAJA4_3649;G19898;WI-12207 MST104;MSTP104;PRO1472 OTTHUMP00000184907;OTTHUMP00000184908;OTTHUMP00000211598;OTTHUMP00000211600;dnaJ homolog subfamily A member 4 protein-coding ENSG00000140403 HGNC:14885 09920 VALIDATED 1348292 DNAJB12 DnaJ (Hsp40) homolog, subfamily B, member 12 DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008] 10 10 10 q22.1 67379461 67399258 - 74092588 74114907 - 72332830 72355149 - 1580863;6480464;6907045 11147971;12477932;14702039;15489334;17207965;17342744;18029348;18781797;19946888;21139048;21148293;21150129;21150319;21890473;21906983;21963094;21987572;22939629;23000965;23956138;24250222;24778252;25036637;8125298 54788 J3KPS0;Q9NXW2;V9GY70;V9GYN7 ABBA01020354;AC091769;AK000034;AK025942;AK027259;AK225051;AK302071;AL050381;AL833358;AMYH02023314;BC011812;BC064920;BI520000;BQ935010;CH471083;DC397260;NM_001002762;NM_017626;XM_005269931;XM_005269932;XR_246094 AAH11812;AAH64920;ADQ32612;BAA90896;BAB15289;BAH13619;CAH56413;EAW54454;EAW54455;EAW54456;NP_001002762;NP_060096;Q9NXW2;XP_005269988;XP_005269989 Hs.500013 1689266;2108023;2123533;2124087 A002G40;DNAJB12_8056;RH44259;RH99109 DJ10;DKFZp586B2023 OTTHUMP00000019786;dnaJ homolog subfamily B member 12 APPROVED protein-coding ENSG00000148719 HGNC:14891 07086 608376 VALIDATED 1315195 DNAJA3 DnaJ (Hsp40) homolog, subfamily A, member 3 This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] 16 16 16 p13.3 4684763 4715682 + 4475806 4506776 + 4425805 4456775 + 1580863;6480464 10411904;11005857;11116152;11147971;11679576;11707338;11719219;11927590;12097419;12118383;12477932;12879007;14578343;14702039;14993262;15156195;15231748;15489334;15520177;15546961;15589840;15601829;15753086;15805242;15879105;16189514;16196087;16204048;16344560;16518412;16531398;16713569;17314511;17588722;18063578;18097612;18624398;19038220;19380743;19681071;19900451;19935715;20186120;20565727;20800603;20877624;21106534;21139048;21145461;21242965;21311096;21710689;21890473;21942715;22544056;22595283;22692211;22939629;23438482;23455924;23698466;23752268;23956138;24250222;24255178;24492964;24816145;25036637;8125298;9683573 9093 B3KM81;I3L1I6;I3L1T6;I3L1T9;I3L3D3;Q53G26;Q59E88;Q96EY1 AB209923;ABBA01026775;ABBA01026776;AC012676;AF061749;AF244136;AF411044;AK001333;AK127660;AK223105;AK295391;AK314218;AMYH02031323;AMYH02031324;AMYH02031325;BC007225;BC011855;BC012343;BC014062;BC020248;BC030145;BC032100;BX445320;CH471112;DA172592;NG_029866;NM_001135110;NM_001286516;NM_005147 AAC29066;AAF66245;AAH07225;AAH11855;AAH12343;AAH14062;AAH20248;AAH30145;AAH32100;AAL35323;BAD93160;BAD96825;BAG36892;BAG50893;BAG58345;EAW85303;EAW85304;EAW85305;NP_001128582;NP_001273445;NP_005138;Q96EY1 Hs.459779 1658360;1850647;1850649;2148339;5037552 1908;Bda26e12;D8S2279;SHGC-60607;SHGC-61069 FLJ45758;HCA57;TID1;hTid-1 OTTHUMP00000159844;dnaJ homolog subfamily A member 3, mitochondrial;dnaJ protein Tid-1;hepatocellular carcinoma-associated antigen 57;tumorous imaginal discs homolog;tumorous imaginal discs protein Tid56 homolog APPROVED protein-coding ENSG00000103423 HGNC:11808 09758 608382 REVIEWED 1605332 DNAJB14 DnaJ (Hsp40) homolog, subfamily B, member 14 FOUND IN membrane; INTERACTS WITH 2-methylcholine; aflatoxin B1; benzo[a]pyrene diol epoxide I 4 4 4 q23 98118130 98165299 - 100817405 100867883 - 99896248 99946726 - 6480464 12477932;12975309;14702039;15489334;15815621;16344560;19946888;21139048;21832049;23018488;24816145 79982 F2Z2L8;H7BZG5;H7BZK3;H7C494;Q8TBM8 ABBA01063674;AC097460;AK023700;AK024343;AK095074;AL121021;AL833076;AL833412;AMYH02009802;AMYH02009803;AMYH02009804;AP001962;AY186740;AY358272;BC022248;BF307232;BQ006309;BX537609;CH471057;DA854416;NM_001031723;NM_001278310;NM_001278311;XM_005263234;XM_006714311 AAH22248;AAO31693;AAQ88639;AAY41012;ADR82647;BAB14645;BAB14893;CAD89928;CAD97796;EAX06114;EAX06115;EAX06116;EAX06117;NP_001026893;NP_001265239;NP_001265240;Q8TBM8;XP_005263291;XP_006714374 Hs.577426;Hs.643686;Hs.713654 1647774;1650661;1656840;1677166;1680355;1735410;1739355;2119794;2164620;2217406;5022578 D1S1423;D4S1216;D4S2582E;D8S1567E;H2AFZ_2801;RH70080;RH93159;SHGC-59572;SHGC-59634;SHGC-64328;SHGC-67358 EGNR9427;FLJ14281;MGC22187;PRO34683 OTTHUMP00000161679;dnaJ homolog subfamily B member 14 protein-coding ENSG00000164031 HGNC:25881 07013 VALIDATED 732533 DNAJA2 DnaJ (Hsp40) homolog, subfamily A, member 2 The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008] 16 16 16 q12.1 31497392 31515743 - 46989274 47007625 - 46955362 46973714 - 1580863;2326084;4892102;5144125;6480464;4891447;6907045 15270078;16356826;16610357;18451092 10508479;10651811;10816573;11147971;12477932;15308774;15489334;16196087;16344560;16449650;17081983;17110338;17207965;17242198;17314511;18595009;18684711;18729074;18976975;19056867;19167051;19322201;19380743;19940115;20360068;20811636;21139048;21145461;21360678;21532573;21549307;21642987;21890473;21906983;21942715;21963094;21987572;22053931;22118674;22268729;22505724;23000965;23042605;23091061;23275444;23349634;23398456;23402259;23438482;23443559;23667531;23752268;23956138;24163370;24318877;24457600;24816145;25015289;25036637;8889548;9383053;9710638 10294 I3L320;O60884 ABBA01013762;AC018845;AF088046;AJ001309;AK313031;AMYH02031969;BC013044;BC015809;BU677823;CH471092;DB097731;KF511225;NM_005880;Y13350 AAH13044;AAH15809;ADQ32759;BAG35864;CAA04669;CAA73791;EAW82693;EAW82694;NP_005871;O60884 Hs.368078 1680757;1730179;1736608;1739203;2108021;2191619 D16S2601E;D16S2924;D16S424E;DNAJA2_7969;MARC_28645-28646:1043420928:1;RH70485 CPR3;DJ3;DJA2;DNAJ;DNJ3;HIRIP4;PRO3015;RDJ2 HIRA interacting protein 4;HIRA-interacting protein 4;OTTHUMP00000164136;cell cycle progression 3 protein;cell cycle progression restoration gene 3 protein;dnaJ homolog subfamily A member 2;renal carcinoma antigen NY-REN-14 APPROVED protein-coding ENSG00000069345 HGNC:14884 07105 611322 REVIEWED 1626575 DNAJB1P1 DnaJ (Hsp40) homolog, subfamily B, member 1 pseudogene 1 2 2 2 q32.3 186339890 186342143 - 192744718 192746971 - 191879992 191882245 - 11916264;12835518;12957361;14503850;19661690;20026329 171221 AB055808;ABBA01062401;AC098872;AMYH02005450;NG_001318 DNAJB1P;HSP40;psiHSP40 APPROVED pseudo HGNC:24988 INFERRED 1602396 DNAJB3 DnaJ (Hsp40) homolog, subfamily B, member 3 FOUND IN extracellular vesicular exosome; INTERACTS WITH 5-aza-2'-deoxycytidine; 8-bromo-3',5'-cyclic AMP; calcitriol 2 2 2 q37 228372015 228373280 - 234651396 234652661 - 233742750 233744015 - 6480464 12477932;15891074;16189514;17207965;21890473;21906983;21963094;23000965;23824909 414061 Q8WWF6 ABBA01001950;AC114812;AMYH02006011;AY083665;BC017590;BC024013;NG_002601;NM_001001394 AAH17590;AAH24013;AAM08934;ADQ32790;NP_001001394;Q8WWF6 Hs.725533 1806278;1807916;1809430;1813554;1950354;1950356;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;2201354;2201356;2201370;2201372 ECD04094;ECD04933;ECD05707;ECD07800;REN46026;REN46027;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;stSG620123;stSG620124;stSG620131;stSG620132 HCG3;MGC26879 dnaJ homolog subfamily B member 3 protein-coding HGNC:32397 13638 VALIDATED 8549315 DNAJB5-AS1 DNAJB5 antisense RNA 1 (head to head) 9 9 34985407 34989376 - 34985410 34989379 - 16344560 101926900 ABBA01065001;ABBA01065002;AI198641;AL355377;AMYH02019455;DA679664;NR_109756 Hs.545814;Hs.738321 ncrna HGNC:49846 VALIDATED 1316536 DNAJB11 DnaJ (Hsp40) homolog, subfamily B, member 11 This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014] 3 3 3 q27.3 184724844 184739974 + 186288467 186303589 + 186570678 186585800 + 1580863;6480464;6907045 10827079;11147971;11584023;12475965;12477932;12975309;14702039;15195998;15489334;15525676;15544163;16130169;16169070;16236267;16303743;17353931;17976514;18029348;18303054;18624398;18923428;19167051;19322201;19748898;19913121;19946888;20335166;20418907;20628086;20811636;21081666;21139048;21145461;21150319;21182205;21673190;21844235;21890473;21900206;21906983;21963094;22190034;22268729;22678362;22863883;22939629;22990118;23097496;23349634;23378021;23443559;23752268;23798571;24778252 51726 F5GXK8;H7C2Y5;Q9UBS4 AB028859;ABBA01058388;AC068631;AF228505;AF277317;AI446699;AJ250137;AK075300;AK075430;AK124289;AK301292;AMYH02008346;AY359043;BC001144;BC046500;BM754506;BT007063;CH471052;CR457096;CS051241;DA058195;NG_034024;NM_016306 AAF61711;AAH01144;AAK69110;AAP35712;AAQ89402;ABM84795;ABM92218;BAA88307;BAC11533;BAC11617;BAG54025;BAG62850;CAB65118;CAG33377;CAI72116;EAW78190;NP_057390;Q9UBS4 Hs.317192;Hs.712822 1336298;1727247;2157592;2217268;5123495 D3S3570;DNAJB11_3829;G62878;SGC30641;SHGC-77609 ABBP-2;ABBP2;DJ9;Dj-9;EDJ;ERdj3;ERj3;ERj3p;HEDJ;PRO1080;UNQ537;hDj-9;hDj9 APOBEC1-binding protein 2;DnaJ protein 9;ER-associated DNAJ protein 3;ER-associated Hsp40 co-chaperone;ER-resident protein ERdj3;OTTHUMP00000210171;PWP1-interacting protein 4;dnaJ homolog subfamily B member 11;dnaJ protein homolog 9;endoplasmic reticulum DNA J domain-containing protein 3;human DnaJ protein 9 APPROVED protein-coding ENSG00000090520 HGNC:14889 07485 611341 REVIEWED 8655512 DNAJB5P1 DnaJ (Hsp40) homolog, subfamily B, member 5 pseudogene 1 9 9 9 50121026 50121640 - 79546356 79546970 - 76931440 76932054 - 100421411 ABBA01033916;AL353637;AMYH02021028;NG_023835 pseudo HGNC:50449 INFERRED 1603338 DNAJB13 DnaJ (Hsp40) homolog, subfamily B, member 13 DNAJA13 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins. For background information on the DNAJ family, see 608375.[supplied by OMIM, Mar 2008] 11 11 11 q13.4 70968115 70988077 + 73661364 73681713 + 73950319 73970668 + 6480464;8554872 12673577;14702039;14970903;20677014 374407 H0YFX2;P59910 ABBA01017499;ABBA01017500;AF516185;AK058095;AK128589;AMYH02025101;AP003717;AY138810;AY325766;CH471076;NM_153614;XM_005273983;XM_005273984;XR_428914 AAI41491;AAI53177;AAN15929;AAP47195;AAQ17190;EAW74920;EAW74921;NP_705842;P59910;XP_005274040;XP_005274041 Hs.567888 1340638;2191197;5015861;5015881;5020946;5022578;5022651;7185938 D10S16;D11S2921;D11S4207;D1S1423;GDB:335751;L17971;MARC_16091-16092:1018021675:1 FLJ46748;RSPH16A;TSARG5;TSARG6 1700014P03Rik;DnaJ (Hsp40) related, subfamily B, member 13;DnaJ-like protein;OTTHUMP00000237896;dnaJ homolog subfamily B member 13;radial spoke 16 homolog A;testis and spermatogenesis cell-related protein 6;testis spermatocyte apoptosis-related gene 6 protein;testis spermatogenesis apoptosis-related gene 3 protein;testis spermatogenesis apoptosis-related gene 6 protein;testis spermatogenesis apoptosis-related protein 6 APPROVED protein-coding ENSG00000187726 HGNC:30718 15573 610263 PROVISIONAL 1353448 DNAJB7 DnaJ (Hsp40) homolog, subfamily B, member 7 The protein encoded by this intronless gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain.[provided by RefSeq, Mar 2011] 22 22 22 q13.2 25059224 25061801 - 41255553 41258130 - 40859549 40862126 - 737633;6480464 12477932 10591208;11147971;15461802;15489334;18029348 150353 Q7Z6W7 ABBA01055609;AF085232;AMYH02038422;BC112135;CH471095;CR456468;NG_028221;NM_145174;Z98048 AAI12136;AAL40391;CAG30354;CAK54449;CAK54748;EAW60401;NP_660157;Q7Z6W7 Hs.585042 1671548;5493131 UniSTS:484407;WI-11646 DJ5;HSC3;MGC138340 OTTHUMP00000199380;dnaJ homolog subfamily B member 7;novel DnaJ domain protein APPROVED protein-coding ENSG00000172404 HGNC:24986 07010 611336 VALIDATED 5144498 DNAJB8-AS1 DNAJB8 antisense RNA 1 3 3 q21.3 128182437 128191160 + 128463594 128472317 + 14702039 285224 ABBA01020896;AC080005;AK097457;AMYH02007618;HG496036;KF459586;NR_037890 Hs.683815 1681322 RH92427 RP11-475N22.2 APPROVED ncrna ENSG00000242049 HGNC:41029 VALIDATED 1314092 DNAJB4 DnaJ (Hsp40) homolog, subfamily B, member 4 DNAJB4 belongs to the evolutionarily conserved DNAJ/HSP40 protein family. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM, Mar 2008] 1 1 1 p31.1 76709697 76722060 + 78444847 78483648 + 77979163 78017964 + 1580863;6480464;8554872 11147971;11371506;12477932;15489334;15592455;15661747;15782117;16009940;16542645;16788156;18029348;18794131;20145123;20360068;20615403;21345358;21906983;21963094;21988832;22145905;22863883;22939629;23000965;23306212;23824909;23898208;24318877;24337577;25036637;9546042 11080 B4DNN2;C9JUL4;Q9UDY4 AB209922;ABBA01074393;AC096948;AC103591;AK297985;AK313205;AMYH02001309;AY669319;BC034721;CH471059;NM_007034;U40992;U41290;XM_005270397;XM_006710308 AAB07346;AAC14483;AAH34721;AAT70409;ABM82080;ABM85259;BAD93159;BAG36021;BAG60294;EAX06354;EAX06355;NP_008965;Q9UDY4;XP_005270454;XP_006710371 Hs.13852 DNAJW;DjB4;HLJ1 DnaJ-like heat shock protein 40;HSP40 homolog;OTTHUMP00000038541;dnaJ homolog subfamily B member 4;heat shock 40 kDa protein 1 homolog;heat shock protein 40 homolog;human liver DnaJ-like protein APPROVED protein-coding HGNC:14886 07486 611327 PROVISIONAL 1316654 DNAJB5 DnaJ (Hsp40) homolog, subfamily B, member 5 DNAJB5 belongs to the evolutionarily conserved DNAJ/HSP40 protein family. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM, Mar 2008] 9 9 9 p13.3 34921313 34930330 + 34989638 34998430 + 34989641 34998433 + 1580863;6480464 10570961;11147971;12477932;14702039;15456869;18457437;18555775;21078624;21139048;23000965;24337577;7566098 25822 H0Y4S1;H0YFL9;H0YH04;H7C5W0;O75953;Q5T657 AA351558;AA434108;ABBA01064999;ABBA01065000;ABBA01065001;AF087870;AF088982;AK023253;AK299647;AK314671;AL355377;AL536638;AMYH02019455;AX880312;BI915181;BU845478;BX419166;CH471071;NM_001135004;NM_001135005;NM_012266;XM_005251428;XM_006716751 AAC35860;AAM10498;ABM83118;ABM86314;BAG51176;BAG61568;CAE90896;EAW58407;NP_001128476;NP_001128477;NP_036398;O75953;XP_005251485;XP_006716814 Hs.237506 1681283;2177516 RH62785;RH98717 Hsc40;KIAA1045 OTTHUMP00000021307;OTTHUMP00000021308;OTTHUMP00000239644;OTTHUMP00000239645;dnaJ homolog subfamily B member 5;heat shock cognate 40;heat shock protein Hsp40-2;heat shock protein Hsp40-3;heat shock protein cognate 40 APPROVED protein-coding ENSG00000137094 HGNC:14887 611328 VALIDATED 737476 DNAJB9 DnaJ (Hsp40) homolog, subfamily B, member 9 This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010] 7 7 7 q31 103023727 103028665 + 108210189 108215294 + 108569745 108574850 + 1580863;6480464;8554872 11042152;11147971;11230166;11256614;11525638;11836248;12356756;12477932;12581160;12690205;12975309;14516790;14559994;14702039;15456888;15489334;15882996;16169070;16205636;16344560;17132139;17936241;18400946;18431251;19123479;19199708;19322201;19815549;20054003;20335527;20554776;20682791;21906983;21988832;22006218;24250222;9533036 4189 Q6FIF1;Q9UBS3 AB026908;ABBA01057890;AC005058;AC005487;AF083247;AF093824;AK092204;AL080081;AMYH02016532;AY359045;BC028912;CH236947;CH471070;CQ834856;CR533475;DA202575;NM_012328 AAD08848;AAD39845;AAH28912;AAP97220;AAQ89404;ABM85902;ABW03749;ACE86565;ACE87247;BAA84703;BAG52496;CAB45701;CAG38506;CAH05643;EAL24382;EAW83438;EAW83439;EAW83440;EAW83441;NP_036460;Q9UBS3 Hs.732494;Hs.741182 1653837;1698776;2162861;2217270 D7S2648;DNAJB9_4015;RH102951;RH69836 DKFZp564F1862;ERdj4;MDG-1;MDG1;MST049;MSTP049 ER-resident protein ERdj4;OTTHUMP00000206840;dnaJ homolog subfamily B member 9;dnaj homolog, subfamily b, member 9;endoplasmic reticulum DNA J domain-containing protein 4;endoplasmic reticulum DnaJ homolog 4;microvascular endothelial differentiation gene 1 protein APPROVED protein-coding ENSG00000128590 HGNC:6968 07047 602634 REVIEWED 1349519 DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 7 7 7 q36.3 151556757 151637136 + 157129692 157210133 + 157337016 157417439 + 1580863;6480464;7240710;8554872;8699517 10319584;10954706;11076863;11147971;11230166;11256614;11896048;12069690;12477932;12690205;12853948;12974469;14702039;15182641;15342353;15489334;15489336;16196087;16260608;16381901;16919237;17081983;17314511;18029348;18163532;18184612;18328103;18373498;18457437;18624398;18976975;19002655;19946888;20020773;20159555;20301582;20301672;20308539;20372789;20522561;21139048;21145461;21832049;21890473;21906983;21963094;21988832;22334415;22366786;22455953;22504047;22505724;22710984;23000965;23133382;23394708;23612975;23667531;23752268;23865856;23891004;24047968;24170373;24250222;24654937;24816145;25036637;8125298 10049 C9J2C4;C9J2P2;C9JB42;C9JDR7;C9JDX6;C9JN01;E9PH18;F8WCZ4;O75190 AB014888;AB015798;AB015799;AB209859;ABBA01032352;ABBA01032353;ABBA01032354;AC006372;AC079306;AF060703;AF075601;AK055429;AK093837;AK124827;AK223601;AK291953;AK293025;AK297497;AK297796;AK297989;AK301152;AL136707;AL832124;AMYH02017160;BC000177;BC002446;BC018175;BC043270;BC110289;CH236954;CH471149;CR533498;EU075177;NG_032573;NM_005494;NM_058246;XM_005249515;XM_005249516;XM_006715823 AAD43194;AAF21257;AAH00177;AAH02446;AAH43270;AAS07392;AAS07393;AAS07521;ABU54861;BAA32209;BAA88769;BAA88770;BAD93096;BAD97321;BAF84642;BAF85714;BAG59911;BAG60135;BAG60297;BAG62743;CAB66642;CAG38529;CAL37426;CAL37619;CAL38226;EAL23923;EAL23924;EAX04570;EAX04571;NP_005485;NP_490647;O75190;XP_005249572;XP_005249573;XP_006715886 Hs.490745 1644789;1646047;2121830;2151709;5107763;5113061;5124493 Bda72a07;GDB:4585419;L17763;RH24939;RH27398;RH35810;STS-AA025061 DJ4;DKFZp566D0824;DnaJ;FLJ42837;HHDJ1;HSJ-2;HSJ2;LGMD1D;LGMD1E;MGC1152;MGC117297;MRJ;MSJ-1 DnaJ-like 2 protein;OTTHUMP00000211814;OTTHUMP00000211815;OTTHUMP00000211816;OTTHUMP00000211817;OTTHUMP00000211818;OTTHUMP00000211824;OTTHUMP00000211826;dnaJ homolog subfamily B member 6;heat shock protein J2;limb girdle muscular dystrophy 1D (autosomal dominant) APPROVED protein-coding ENSG00000105993 HGNC:14888 07107 603511;611332 REVIEWED 1602472 DNAJC12 DnaJ (Hsp40) homolog, subfamily C, member 12 This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q22.1 62831293 62872817 - 69556427 69597937 - 67796669 67838179 - 6480464;8554872 10760603;12477932;15164054;15489334;16385451;16391838;16712791;17373700;21832049;22939629 56521 Q6IAH1;Q9UKB3;S4R368;S4R3E2;S4R3W0 ABBA01019548;ABBA01019549;AF176012;AF176013;AK289537;AL133551;AMYH02023242;AMYH02023243;BC017018;CB121724;CH471083;CR457184;NM_021800;NM_201262 AAD52650;AAD52651;AAH17018;BAF82226;CAG33465;EAW54255;EAW54256;EAW54257;NP_068572;NP_957714;Q9UKB3 Hs.260720 1659851;1665811;2138531;2171532;2218500;5092644 A005L41;DNAJC12__3656;G32236;HSC2FE022;SHGC-37102;STS-T95268 JDP1;RP11-57G10.2 J domain containing protein 1 (JDP1);J domain protein 1;OTTHUMP00000019689;OTTHUMP00000019690;dnaJ homolog subfamily C member 12;j domain-containing protein 1 APPROVED protein-coding ENSG00000108176 HGNC:28908 06930 606060 REVIEWED 1318035 DNAJC1 DnaJ (Hsp40) homolog, subfamily C, member 1 ENCODES a protein that exhibits ATPase activator activity (inferred); chaperone binding (inferred); chromatin binding (inferred); INVOLVED IN regulation of protein secretion; PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; endoplasmic reticulum (ortholog); INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene 10 10 10 p12.31 21733220 21980371 - 22045477 22292679 - 21756548 22003721 - 1580863;6480464;6907045;8554872 10777498;12477932;14667819;14668352;14702039;15164054;15489334;16271702;16385451;18029348;19946888;22412018;23535729;23535730;24816145 64215 H0Y5E9;Q5T1X2;Q96KC8 ABBA01034483;ABBA01034484;ABBA01034485;ABBA01034486;ABBA01034487;ABBA01034488;AF427142;AK026062;AK027263;AK308369;AL359697;AL445431;AMYH02022425;AMYH02022426;AMYH02022427;AY225122;BC014436;BC030955;BC110894;BC139752;CH471072;EF444973;NM_022365 AAI10895;AAI39753;AAL24046;AAP50497;ACA05976;ACA05977;ACA05978;ACA05979;BAB15343;BAB55004;EAW86160;NP_071760;Q96KC8 Hs.499000 1337817;1654245;1670104;1686863;1778915;2118551;2125501;2131390;2150937;2168935;2177560 D10S1734;D10S2405;G17496;RH17498;RH44689;RH81095;SGC32110;SGC33575;SGC35686;SHGC-3893;WI-21812 DNAJL1;ERdj1;HTJ1;MGC131954;MTJ1 DnaJ-like protein;OTTHUMP00000019282;dnaJ homolog subfamily C member 1;dnaJ protein homolog MTJ1 protein-coding ENSG00000136770 HGNC:20090 09922 611207 PROVISIONAL 1343992 DNAJB8 DnaJ (Hsp40) homolog, subfamily B, member 8 The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012] 3 3 3 q21.3 126609282 126614086 - 128181275 128186091 - 128462432 128467248 - 1580863;6480464 11147971;12477932;15489334;17207965;20159555;20556630;22552285;23612975;24450541 165721 Q8NHS0 ABBA01020896;AC080005;AI188219;AK125946;AK126068;AMYH02007618;BC029521;BC050288;CH471052;HC006932;HC044703;KF459586;NM_153330;XM_006713519 AAH29521;AAH50288;ADQ32829;BAG54269;BAG54285;CBH19271;CBH30681;EAW79320;NP_699161;Q8NHS0;XP_006713582 Hs.518241 1681322;2110369 DNAJB8_8151;RH92427 CT156;DJ6;MGC33884 DnaJ homolog, subfamily B, member 8;OTTHUMP00000216243;OTTHUMP00000216244;dnaJ homolog subfamily B member 8 APPROVED protein-coding ENSG00000179407 HGNC:23699 06684;09921 611337 REVIEWED 1318848 DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011] 2 2 2 q32-q34 213913742 213921325 + 220144040 220151622 + 219279318 219286900 + 1580863;6480464;6907045;8699517;8554872;7240710 10516435;11147971;12107410;12477932;12754272;14751250;14759258;15231748;15489334;15936278;1599432;16604191;17082820;17207965;17601350;17847007;18321953;18977241;19285159;20395441;21139048;21625540;21890473;21906983;21963094;21987572;22190034;22396390;22522442;23000965;23752268;23940030;24023695;24250222;8889548;9553041 3300 C9J1G2;C9JRD2;C9JX00;C9JXB9;E7ETU0;P25686;Q53QD7 ABBA01023843;AC114803;AK289626;AK292761;AK293888;AK296297;AK312723;AL547521;AMYH02005820;BC011609;BC040494;BC047056;BF795662;BM689272;BT007088;BX420085;BX478051;CA392563;CH471063;NG_029553;NM_001039550;NM_006736;S37374;S37375;X63368 AAA09034;AAA09035;AAH11609;AAH47056;AAP35751;AAY24037;ACE86496;ACE87177;ACT64564;ACT64565;ADQ31626;BAF82315;BAF85450;BAG35597;BAG57277;BAG58998;CAA44968;CAA44969;EAW70722;EAW70723;NP_001034639;NP_006727;P25686 Hs.77768 1788016;2155428 Cda0vf12;G67373 DSMA5;HSJ-1;HSJ1;HSPF3 OTTHUMP00000164174;OTTHUMP00000205873;OTTHUMP00000205874;OTTHUMP00000205877;OTTHUMP00000205878;dnaJ homolog subfamily B member 2;dnaJ protein homolog 1;heat shock 40 kDa protein 3;heat shock protein J1;heat shock protein, neuronal DNAJ-like 1 APPROVED protein-coding ENSG00000135924 HGNC:5228 07249 604139;614881 REVIEWED 1317094 DNAJC11 DnaJ (Hsp40) homolog, subfamily C, member 11 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH carbamazepine; cobalt dichloride; copper(2+) sulfate 1 1 1 p36.31 5808085 5875829 - 6694228 6761966 - 6634168 6701906 - 6480464;8554872 12477932;12964007;14702039;15489334;16710414;17207965;17222547;17500595;17624330;19808946;20877624;21139048;21890473;21900206;21906983;21987572;22114354;22268729;24255178;24816145;8619474;9110174 55735 B1AK20;B4DGD5;Q5TH61;Q9NVH1;Q9UMU8 ABBA01035460;ABBA01035461;AF052158;AF306694;AF306695;AF306696;AK001599;AK025491;AK093709;AK095386;AK294539;AK298378;AL031447;AL109978;AL159177;AL833841;AMYH02000180;AMYH02000181;AY336749;BC006086;BC008772;BC014145;CH471130;DB461237;NM_018198 AAH06086;AAH08772;AAH14145;AAR02411;ADQ32081;BAA91780;BAG53038;BAG57746;BAG60614;CAB53376;CAD38701;EAW71570;EAW71571;EAW71572;NP_060668;Q9NVH1 Hs.462640 1336657;1646894;1673526;1684896;1692782;1725655;1732802;2142101;2167219;5093094 A009F43;AL033625;D1S1257;D1S2731;G32516;G62036;RH36717;SHGC-57899;SHGC-74158;SHGC-74159 FLJ10737;RP1-126A5.3;dJ126A5.1 OTTHUMP00000001585;OTTHUMP00000001586;dnaJ homolog subfamily C member 11;novel DnaJ domain-containing protein protein-coding ENSG00000007923 HGNC:25570 07112 614827 VALIDATED 1316177 DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15 INVOLVED IN cellular response to starvation (inferred); negative regulation of mitochondrial electron transport, NADH to ubiquinone (inferred); negative regulation of protein complex assembly (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; atrazine 13 13 13 q14.1 24653551 24739491 + 43597362 43683306 + 43023226 43109170 + 6480464 11358853;12477932;14729589;15057823;15489334;16049974;17283040;18029348;18324624;19322201;19734545;20877624;23263864 29103 Q9Y5T4 ABBA01021247;AF126743;AK311866;AL445217;AMYH02027942;AY248898;AY512565;BC010910;BC095400;CA444534;CH471075;NM_013238 AAD38506;AAH10910;AAH95400;AAP20049;AAS80157;ADZ15771;BAG34807;EAX08688;NP_037370;Q9Y5T4 Hs.438830 1649078;1703982;1751429;2142974;2167033;2182285;2184196 G29207;SHGC-105249;SHGC-77765;STS-N30720;STS-N40997;STS-T93515;WI-10462 DNAJD1;HSD18;MCJ DNAJ domain-containing;DnaJ (Hsp40) homolog, subfamily D, member 1;OTTHUMP00000018329;cell growth-inhibiting gene 22 protein;dnaJ homolog subfamily C member 15;methylation-controlled J protein protein-coding HGNC:20325 13238 615339 VALIDATED 1349604 DNAJC14 DnaJ (Hsp40) homolog, subfamily C, member 14 INVOLVED IN protein transport (inferred); FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; copper(2+) sulfate 12 12 12 q13.2 55867105 55875783 - 56214744 56224337 - 55820960 55829636 - 632650;6480464 11331877 11181995;11984006;12446598;12477932;12768437;14702039;14993367;15489334;16344560;18029348;19322201;19946888;21249176;22815758;22915803 85406 F8VNT6;F8VYY5;Q6Y2X3 ABBA01008390;AC023055;AF141342;AF351784;AK055945;AK057354;AK123025;AK291222;AMYH02026552;AMYH02026553;AY188447;BC080655;BC117146;BC117148;CH471054;DA127901;EF560741;NM_032364 AAG49445;AAH80655;AAI17147;AAI17149;AAK56241;AAO73451;ABQ59051;ADR83105;ADR83341;BAB71050;BAB71445;BAF83911;BAG53854;EAW96832;EAW96833;EAW96834;EAW96835;EAW96836;EAW96837;EAW96839;NP_115740;Q6Y2X3 Hs.709320 1654650;1669149;1719687;5015619;5015861;5017266;5022576;5024039;5037552;7185938 D10S16;D11S3114;D16S325;D1S1361;D8S2279;L18506;RH123532;SGC32784;SHGC-64831 DNAJ;DRIP78;HDJ3;LIP6;hDj-3 LYST-interacting protein LIP6;OTTHUMP00000243776;OTTHUMP00000243777;dnaJ homolog subfamily C member 14;dnaJ protein homolog 3;dopamine receptor interacting protein;dopamine receptor-interacting protein of 78 kDa;human DnaJ protein 3 protein-coding ENSG00000135392 HGNC:24581 12082 606092 VALIDATED 1317224 DNAJC10 DnaJ (Hsp40) homolog, subfamily C, member 10 This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] 2 2 2 q32.1 177177237 177239498 + 183580768 183644752 + 182716041 182780025 + 1580863;6480464;6907045;8554872 12411443;12446677;12477932;12975309;14587667;14702039;15489334;15815621;16189514;16303743;16344560;17353921;18400946;18653895;19122239;19706418;19815549;19946888;20347046;21139048;21145461;21266254;21329881;21632540;21890473;21906983;22229892;22354994;22797925;23192594;23363602;23769672;23973329;24816145 54431 E7EP04;H7C1G0;Q8IXB1 AA651917;ABBA01062301;AC073951;AC105396;AF038503;AF314529;AF490904;AK027450;AK027647;AK027696;AK027701;AK074905;AK298138;AL137648;AL832267;AL832632;AL832646;AMYH02005370;AMYH02005371;AMYH02005372;AY010234;AY089971;AY358577;BC034713;BC070034;BC107425;BC117299;BC126168;CH471058;DA106532;KF456753;NM_001271581;NM_018981;NR_073365;NR_073366;NR_073367 AAG32626;AAH34713;AAI07426;AAI17300;AAI26169;AAM09527;AAM09954;AAN73271;AAQ14565;AAQ88940;AAX88931;AAY24240;ADR83268;ADR83402;BAB55121;BAB55263;BAB55304;BAC11281;BAG51367;BAG60416;CAB70858;CAD89982;EAX10959;EAX10960;EAX10961;EAX10962;EAX10963;EAX10964;NP_001258510;NP_061854;Q8IXB1 Hs.516632;Hs.744512 1646438;1682117;1685884;1700902;1752217;1935040;2134106 D2S1993;REN38353;RH104078;RH48757;RH92924;SHGC-106137;WI-13407 DKFZp434J1813;ERdj5;JPDI;MGC104194;MTHr;PDIA19 ER-resident protein ERdj5;J-domain-containing protein disulfide isomerase-like protein;OTTHUMP00000205317;dnaJ homolog subfamily C member 10;endoplasmic reticulum DNA J domain-containing protein 5;macrothioredoxin;protein disulfide isomerase family A, member 19 protein-coding ENSG00000077232 HGNC:24637 09722 607987 REVIEWED 7240858 DNAJC19P2 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 2 19 19 q 42111645 42112191 - 41605290 41605836 - 100861445 ABBA01040811;AC005955;AC243960;NG_032014 pseudo HGNC:45065 INFERRED 7240884 DNAJC19P1 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 1 10 10 10 q21.3 62868399 62868723 + 69593521 69593842 + 67833763 67834084 + 100129853 ABBA01019549;AL133551;AMYH02023243;NG_030118 pseudo HGNC:45064 INFERRED 7240965 DNAJC19P3 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 3 19 19 q 42144848 42145359 - 41638480 41638991 - 100861443 ABBA01040811;AC005794;AC243960;NG_032013 pseudo HGNC:45066 INFERRED 7240987 DNAJC19P6 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 6 6 6 q 90507165 90507617 + 89797446 89797898 + 100861449 ABBA01040537;AL158813;AMYH02014089;NG_032015;NG_034012 pseudo HGNC:45069 INFERRED 1603908 DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012] 3 3 3 q26.33 179133934 179140000 - 180701497 180707562 - 180983709 180989774 - 6480464;7240710;8554872;8699517 10737800;12477932;12592411;14517234;15489334;16055927;16344560;16712791;17244376;19564938;20053669;21139048;21832049;21890473;22544056;22797137;22939629;8889548 131118 F2Z3A7;G5E9V2;Q96DA6 AA775489;ABBA01058512;AC008009;AI268262;AK307097;AK309019;AK311765;AMYH02008244;AW161751;AW207852;BC009702;BC073989;BE773017;BF666599;BG492744;BM701756;BM702203;BQ438379;BU685935;CB052107;CB054787;CB159371;CH471052;DA158066;NG_022933;NM_001190233;NM_145261;NR_033721;NR_033722;NR_033723;NR_046073 AAH09702;AAH73989;ADZ15986;BAG34708;EAW78358;EAW78359;EAW78360;EAW78361;EAW78362;EAW78363;EAW78364;NP_001177162;NP_660304;Q96DA6 Hs.230601 1682171;2115049;2128273;2135080;2169900;5019845;5494136 Bda17b07;G34972;RH130227;RH66895;RH68261;SHGC-77577;SHGC-77587 FLJ99060;Pam18;TIM14;TIMM14 OTTHUMP00000212659;OTTHUMP00000212660;OTTHUMP00000212661;OTTHUMP00000212662;OTTHUMP00000212663;homolog of yeast TIM14;mitochondrial import inner membrane translocase subunit TIM14 APPROVED protein-coding ENSG00000205981 HGNC:30528 12349 608977;610198 REVIEWED 7240963 DNAJC19P7 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 7 1 1 p 52717643 52718555 - 52251971 52252883 - 100861458 ABBA01074777;AC105754;AMYH02001016;NG_032018 pseudo HGNC:45070 INFERRED 1602641 DNAJC18 DnaJ (Hsp40) homolog, subfamily C, member 18 FOUND IN integral component of membrane (inferred); INTERACTS WITH carbamazepine; diclofenac; trichostatin A 5 5 5 q31.2 134865984 134895485 - 138745892 138780171 - 139410203 139444482 - 6480464 12477932;14702039;15489334;16344560;17207965;18676680;19170196;19240791;19625176;19692168;8889548 202052 D6RB03;D6RB44;D6RCS7;D6REJ9;D6RHF6;H0Y9V6;H0YA78;Q9H819 ABBA01068638;AC142391;AK001329;AK308138;AMYH02012318;AMYH02012319;AX883446;BC030162;BU735127;CH471062;DA497858;NM_152686;XM_005271917;XM_005271918;XM_006714567;XM_006714568 AAH30162;ADQ32259;CAE91977;EAW62102;NP_689899;Q9H819;XP_005271974;XP_005271975;XP_006714630;XP_006714631 Hs.483537 1662133;1666149;1780666;2170953;2177615;2179609;5017433;5022578 D1S1423;IB2038;IB372;RH48304;RH66310;STS-T76997;T03718;bac51556S MGC29463 OTTHUMP00000224292;dnaJ homolog subfamily C member 18 protein-coding ENSG00000170464 HGNC:28429 07130 VALIDATED 1602696 DNAJC17 DnaJ (Hsp40) homolog, subfamily C, member 17 ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; genistein; pirinixic acid 15 15 15 q15.1 17827960 17867572 - 41060067 41099676 - 40767869 40807478 - 6480464;8554872 12477932;14702039;15489334;16344560;17081983;19913121;20628086;21139048;21890473;24816145 55192 H0YK99;H0YLQ7;H0YLV4;Q9NVM6;S4R343 AA834211;ABBA01038431;ABBA01038432;AC012476;AK001496;AK308659;AK308858;AK309307;AK310140;AMYH02030255;BC000048;CH471125;DA341962;NM_018163;XM_005254533 AAH00048;BAA91724;EAW92444;EAW92445;NP_060633;Q9NVM6;XP_005254590 Hs.511069 2131151 SHGC-56869 FLJ10634 OTTHUMP00000160542;dnaJ homolog subfamily C member 17 protein-coding HGNC:25556 07111 VALIDATED 7240986 DNAJC19P5 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 5 2 2 q 178093825 178094248 - 177229097 177229520 - 100861453 ABBA01062230;AC079305;AMYH02005313;NG_032016 pseudo HGNC:45068 INFERRED 7240885 DNAJC19P8 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 8 1 1 p 245443055 245446509 - 245279753 245283207 - 100861455 ABBA01047175;AL592103;AMYH02003100;NG_032017 pseudo HGNC:45071 INFERRED 1603691 DNAJC16 DnaJ (Hsp40) homolog, subfamily C, member 16 INVOLVED IN cell redox homeostasis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH bisphenol A; coumestrol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p36.1 14336224 14381093 + 15853343 15898228 + 15526813 15571733 + 6480464;8554872 10231032;12168954;12477932;14702039;15489334;16710414;16751776;19773279;21906983;21963094 23341 H0YCM8;Q5TDG9;Q5TDH4;Q9Y2G8 AB023179;ABBA01004707;ABBA01004708;AK022530;AK023805;AK091848;AK292479;AL121992;AL137715;AL512883;AL833299;AMYH02000362;BC031991;BC047363;BX648982;CH471167;CR749259;CR749567;KF495874;NM_001287811;NM_015291;NR_109898 AAH31991;AAH47363;ADZ15616;BAA76806;BAF85168;BAG51085;BAG51224;BAG52425;CAH18115;CAH18363;EAW51732;EAW51733;EAW51734;NP_001274740;NP_056106;Q9Y2G8 Hs.655410 1339409;1654060;1661373;1699454;1703218;1735958;1758971;2120154;2151890;2163113;2168554;2175768;5037552 D1S1942E;D1S436;D8S2279;RH103318;RH70283;SGC32451;SHGC-1541;SHGC-32561;SHGC-33042;SHGC-64014;SHGC-74257;SHGC-74260;SHGC-74263 DKFZp686G1298;DKFZp686N0387;DKFZp781I1547;KIAA0962;RP4-680D5.1 OTTHUMP00000002468;OTTHUMP00000002469;OTTHUMP00000002470;OTTHUMP00000002471;dnaJ homolog subfamily C member 16;novel DnaJ domain-containing protein protein-coding ENSG00000116138 HGNC:29157 17202 VALIDATED 7240976 DNAJC19P9 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 9 14 14 14 q21.2 25620505 25620855 + 45759239 45759586 + 45290036 45290383 + 644589 ABBA01018053;AL133501;AMYH02029103;NG_030241 1682171;2128273;5019845 G34972;RH66895;RH68261 pseudo HGNC:45072 INFERRED 1317589 DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13 INVOLVED IN osteoblast differentiation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); PARKINSON DISEASE, LATE-ONSET (inferred); FOUND IN extracellular vesicular exosome; lysosomal membrane; membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; paracetamol; potassium chromate 3 3 3 q22.1 130562832 130684152 + 132136361 132257876 + 132417520 132539032 + 6480464;8554872 12438707;12477932;14702039;15051737;15302935;15489334;15538384;15840729;16179350;16210410;17897319;18256511;18307993;19056867;19874558;21139048;21145461;21674799;21900206;21906983;21963094;22507240;23402259;24097068;24126164;24250222;24639526;24816145;9734811 23317 H0Y8Q2;H0YA63;O75165 AB014578;ABBA01059185;ABBA01059186;AC020632;AC020633;AC026374;AI189887;AK023168;AK098729;AK125330;AK127112;AMYH02007688;AY369172;AY779857;BC000164;BC009630;BC033782;BC040638;BC043583;BC065756;BC105580;BC151246;CH471052;NM_015268;XM_005247245 AAH00164;AAH09630;AAH40638;AAH43583;AAI05581;AAI51247;AAQ57271;AAV41096;BAA31653;BAC05394;BAC86133;BAC86835;BAG51164;EAW79198;EAW79199;NP_056083;O75165;XP_005247302 Hs.12707 1699734;2121437;2127405;2168841;2217272 A006Y18;DNAJC13_3796;RH103473;SHGC-77348;SHGC-77351 FLJ25863;KIAA0678;RME-8;RME8 DnaJ domain-containing protein RME-8;OTTHUMP00000216167;dnaJ homolog subfamily C member 13;required for receptor-mediated endocytosis 8 protein-coding ENSG00000138246 HGNC:30343 10915 614334 VALIDATED 1602458 DNAJC22 DnaJ (Hsp40) homolog, subfamily C, member 22 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 12 12 12 q13.12 48534339 48538995 + 49740721 49747467 + 49346938 49353684 + 6480464 12477932;14702039;17558392;19460752;21906983 79962 Q8N4W6 ABBA01031522;AC125611;AK055747;AMYH02026445;BC033236;CH471111;NM_024902;XM_005269153;XM_005269154;XM_005269155;XM_005269156;XM_005269157 AAH33236;BAG51566;EAW58066;EAW58067;NP_079178;Q8N4W6;XP_005269210;XP_005269211;XP_005269212;XP_005269213;XP_005269214 Hs.659300 1700510;1746647;5022578;5037552;5109281 D1S1423;D1S1425;D8S2279;G64403;RH103876 FLJ13236;wus OTTHUMP00000241256;OTTHUMP00000241257;dnaJ homolog subfamily C member 22;wurst homolog protein-coding ENSG00000178401 HGNC:25802 08580 PROVISIONAL 1603327 DNAJC25 DnaJ (Hsp40) homolog, subfamily C , member 25 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH tunicamycin; zinc atom; zinc(0) 9 9 9 q31.3 84892702 84915694 + 114393632 114416631 + 111631352 111654351 + 6480464;8554872 12477932;14702039;24250222 548645 F2Z3D1;J3QR79;Q9H1X3 ABBA01042726;ABBA01042727;AF447177;AK095452;AL135787;AMYH02021478;AW629467;BC048318;CH471105;DR004317;NM_001015882;NR_037148 AAH48318;AAQ04643;BAG53057;EAW59085;NP_001015882;Q9H1X3 Hs.534196 2160642 RH65734 bA16L21.2.1 DnaJ-like protein;OTTHUMP00000081796;dnaJ homolog subfamily C member 25 protein-coding ENSG00000059769 HGNC:34187 18685 VALIDATED 1606057 DNAJC25-GNG10 DNAJC25-GNG10 readthrough This gene represents naturally-occurring mRNAs that are co-transcribed products of the neighboring DNAJC25 and GNG10 genes. These transcripts include the first exon of DNAJC25 and the last two exons of GNG10, resulting in a protein that combines the N-terminus of DNAJC25 and the C-terminus of GNG10. [provided by RefSeq, Dec 2008] 9 9 9 q31.3 84892736 84931567 + 114393632 114432526 + 111631352 111670246 + 6480464;8554872 12477932;14702039;15164053;15489334;20967262;8889548 552891 Q9H1X3 ABBA01042726;ABBA01042727;AL135787;AMYH02021478;BC015391;BT007068;BU675931;CH471105;NM_004125 AAH15391;AAP35731;ABM82436;ABM85627;EAW59082;EAW59086;NP_004116 Hs.534196 1678519;1777999;2140839;2160642;2179316;5019637 D9S949;G32289;RH12061;RH65734;RH66959;WI-17453 DNAJC25-GNG10 readthrough transcript;OTTHUMP00000021913 APPROVED protein-coding ENSG00000244115 HGNC:37501 10374 VALIDATED 6480326 DNAJC27-AS1 DNAJC27 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 2 2 2 p23.3 25035357 25102916 + 25194981 25262563 + 24972112 25039694 + 8554872 16344560 729723 ABBA01045126;ABBA01045127;ABBA01045128;ABBA01045129;ABBA01045130;AC013267;AMYH02003425;AMYH02003426;AMYH02003427;AMYH02003428;CR933670;DA314471;HG493761;KF456641;NR_034113 Hs.436366 1848718;5016478;5020274;5022463;5037552;5109281 D1S1425;D3S1673;D8S2279;G16395;GDB:434012;L18441 AC013267.2 APPROVED ncrna ENSG00000224165 HGNC:42943 VALIDATED 1350551 DNAJC24 DnaJ (Hsp40) homolog, subfamily C, member 24 Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008] 11 11 11 p13 31538800 31601804 + 31391377 31454382 + 31369830 31432835 + 737633;6480464 12477932 14702039;15485916;15489334;22367199;22509046 120526 D3DQZ6;E9PID3;E9PRW3;H0YCV1;J3KPT8;Q6P3W2 ABBA01060927;ABBA01060928;ABBA01060929;AC108456;AK123087;AK289665;AL050199;AL137804;AL833128;AMYH02024543;AMYH02024544;AMYH02024545;BC036571;BC044931;BC063804;CD685768;CH471064;NM_181706 AAH36571;AAH63804;BAF82354;EAW68241;EAW68242;EAW68243;EAW68244;EAW68245;EAW68246;EAW68247;NP_859057;Q6P3W2 Hs.187269;Hs.741895 1685397;1748993;2165693 RH92771;SHGC-110629;WI-13900 DPH4;JJJ3;ZCSL3 1700030A21Rik;CSL-type zinc finger-containing protein 3;DPH4 homolog (JJJ3, S. cerevisiae);DPH4, JJJ3 homolog;DPH4, JJJ3 homolog (S. cerevisiae);OTTHUMP00000165107;diphthamide biosynthesis protein 4;dnaJ homolog subfamily C member 24;zinc finger, CSL domain containing 3;zinc finger, CSL-type containing 3 APPROVED protein-coding ENSG00000170946 HGNC:26979 15705 611072 VALIDATED 734039 DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; carbamazepine; diclofenac 5 5 5 p13.2 34811930 34841301 + 34929698 34959069 + 34929593 34958964 + 6480464;8554872 12477932;14702039;15067379;15489334;16952052;17081983;17500595;18654987;20195357;21139048;21145461;21890473;22566498;23000965;24457600;24778252;24816145 134218 Q5F1R6 ABBA01039261;ABBA01039262;ABBA01039263;AC008795;AC026801;AK022694;AK054651;AK127749;AMYH02011153;AMYH02011154;AY177688;AY258422;BC050472;BC065745;BC107577;BX648765;CH471119;CS300535;NM_001012339;NM_194283;XM_005248249;XM_005248250 AAH50472;AAH65745;AAI07578;AAI41524;AAO46910;AAP81807;BAC87112;CAK32199;EAW55911;NP_001012339;NP_919259;Q5F1R6;XP_005248306;XP_005248307 Hs.131887 1335880;1680924;1713947;1735466;1851856;5014051;5015619;5016008;5020948;5021872;5022200;5037552;7186235 D11S3114;D5S1589E;D5S493;D8S2278;D8S2279;G35510;L18426;NM_194283;RH119402;RH45242;RH48468;sY3084 DNAJA5;GS3;JJJ1 DnaJ homology subfamily A member 5;JJJ1 DnaJ domain protein homolog;OTTHUMP00000082746;OTTHUMP00000082747;dnaJ homolog subfamily A member 5;dnaJ homolog subfamily C member 21;putative regulation protein gs3 protein-coding ENSG00000168724 HGNC:27030 14056 VALIDATED 1347817 DNAJC3 DnaJ (Hsp40) homolog, subfamily C, member 3 This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010] 13 13 13 q32.1 77177188 77295039 + 96329393 96447243 + 95677139 95794989 + 1580863;6480464;6907045 11116152;11147971;11526399;11939789;11991713;12034040;12446838;12477932;12601012;15057823;15489334;18568130;19199708;19946888;20237496;20554776;21139048;21799829;21906983;21963094;22064321;22190034;24250222;24816145;7511204;8576172;8666242;8824806;8824808;9447982;9920933 5611 A8KA82;Q13217;X6R9L0 AA430108;ABBA01027176;ABBA01027177;ABBA01027178;ABBA01027179;ABBA01027180;ABBA01027181;ABBA01027182;AF339773;AF339835;AK024941;AK292947;AK312861;AL136104;AL138955;AMYH02028524;AMYH02028525;AY795482;BC033823;BC047936;CH471085;NM_006260 AAH47936;AAV40838;BAF85636;BAG35713;EAX08959;NP_006251;Q13217 Hs.59214 1672252;1693690;1696958;1737499;1775284;1789825;1789827;1789829;1789831;1789833;1854886;1855567;2185618;5015959 A008Q12;D10S2448;D13S1038;RH101951;RH45059;SHGC-2965;SHGC-58612;WI-13942;WI-17122;csnpdnajc3-pcr13-1;csnpdnajc3-pcr3-1;csnpdnajc3-pcr4-1;csnpdnajc3-pcr6-1;csnpdnajc3-pcr8-1 ERdj6;FLJ21288;HP58;P58;P58IPK;PRKRI ER-resident protein ERdj6;OTTHUMP00000018567;dnaJ homolog subfamily C member 3;endoplasmic reticulum DNA J domain-containing protein 6;endoplasmic reticulum DnaJ protein 6;interferon-induced, double-stranded RNA-activated protein kinase inhibitor;protein kinase inhibitor of 58 kDa;protein kinase inhibitor p58;protein-kinase, interferon-inducible double stranded RNA dependent inhibitor APPROVED protein-coding ENSG00000102580 HGNC:9439 03114 601184 REVIEWED 1353353 DNAJC28 DnaJ (Hsp40) homolog, subfamily C, member 28 INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; copper(2+) sulfate 21 21 21 q22.11 20059872 20063657 - 34860238 34864023 - 33488055 33491723 - 6480464 10830953;12036298;12477932;14702039;15489334;16344560;21900206;21906983;24250222;8125298 54943 Q9NX36 ABBA01057345;ABBA01057346;AC207981;AF462153;AI825667;AK000468;AK225514;AMYH02037740;AP000302;BC029509;CB241459;CH471079;DA234338;DA249316;HY130099;NM_001040192;NM_017833;XM_006724027;XM_006725398 AAI56695;AAL59618;BAA91185;EAX09830;EAX09831;NP_001035282;NP_060303;Q9NX36;XP_006724090;XP_006725461 Hs.458308 1697784;1697874;1808238;1810684;1820052;1829994;1846436;2028898;2028900;2028902;2028904;2028906;2028908;2028910;2028912;2028914;2028916;2028918;2028920;2028922;2028924;2028926;2028928;2028930;2028932;2028934;2028936;2101296;2101298;2101300 ECD05100;ECD06336;ECD11098;ECD16130;ECD24438;REN85453;REN85454;REN85455;REN85456;REN85457;REN85458;REN85459;REN85460;REN85461;REN85462;REN85463;REN85464;REN85465;REN85466;REN85467;REN85468;REN85469;REN85470;REN85471;REN85472;RH102416;RH102465;stSG607208;stSG607209;stSG607210 C21orf55;C21orf78 OTTHUMP00000068156;OTTHUMP00000068157;OTTHUMP00000197911;dnaJ homolog subfamily C member 28 protein-coding ENSG00000177692 HGNC:1297 10752 VALIDATED 5130588 DNAJC3-AS1 DNAJC3 antisense RNA 1 (head to head) 13 13 13 q32.1 77172882 77176956 - 96325089 96329080 - 95672835 95676826 - 100289274 ABBA01027182;AL138955;AMYH02028524;XR_109147;XR_111404;XR_172013 APPROVED ncrna ENSG00000247400 HGNC:39808 MODEL 1602712 DNAJC27 DnaJ (Hsp40) homolog, subfamily C, member 27 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; copper(2+) sulfate 2 2 2 p23.3 25006881 25035200 - 25166505 25194963 - 24943636 24972094 - 6480464;8554872 12477932;14980719;18391951;20877624;20881960;20935630;21980299;22344219;23449627;24746703;9564038 51277 F5GY94;Q9NZQ0 ABBA01045125;ABBA01045126;AC012073;AC013267;AF178983;AK294726;AL117490;AL137731;AMYH02003425;AY094594;BC034049;BK001284;CH471053;NM_001198559;NM_016544;XR_244938 AAF44347;AAH34049;AAM22521;AAX93052;AAY14788;BAG57873;CAI46214;DAA01323;EAX00735;EAX00736;EAX00737;EAX00738;NP_001185488;NP_057628;Q9NZQ0 Hs.434993 1846783;2118753;2151118;2178023 A006O37;RH68365;SHGC-31106;WI-21502 DKFZp434N211;RBJ;RabJS OTTHUMP00000155184;Ras-associated protein Rap1;dnaJ homolog subfamily C member 27;rab and DnaJ domain containing;rab and DnaJ domain-containing protein protein-coding ENSG00000115137 HGNC:30290 15221 613527 VALIDATED 733241 DNAJC2 DnaJ (Hsp40) homolog, subfamily C, member 2 This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008] 7 7 7 q22 97760144 97792539 - 102952921 102985320 - 103312474 103344873 - 1580863;6480464 11034098;12477932;12800198;14696097;14702039;15802566;16002468;16344560;17081983;18029348;18399720;20231810;21139048;21179169;21906983;22433847;22733129;24449271;24816145;8885239 27000 C9IZ83;F2Z3H0;F2Z3N9;H7C3L7;Q99543 ABBA01057988;ABBA01057989;ABBA01057990;ABBA01057991;AC004668;AI621015;AK126382;AL832847;AMYH02016449;BC000859;BC012376;BC032854;BC046351;BC056682;BC062703;BC125057;BC139751;CH471070;DA272314;DA691752;NM_001129887;NM_014377;X98260;XM_005250269 AAH00859;AAH62703;AAI25058;AAI39752;AAI60045;CAA66913;EAW83329;EAW83330;NP_001123359;NP_055192;Q99543;XP_005250326 Hs.558476 1700688;1770441;1854479;2151274;2169517;5015861;5015961;5037552;5107155;5123108;5491539;7185938 D10S16;D15S1477;D8S2279;G67883;MARC_17457-17458:1023121715:1;RH103967;RH71304;SGC32790;SHGC-54619;STS-W90638;WI-14926 MPHOSPH11;MPP11;ZRF1;ZUO1 M-phase phosphoprotein 11;OTTHUMP00000211690;OTTHUMP00000211691;dnaJ homolog subfamily C member 2;zuotin related factor 1;zuotin related factor 2;zuotin-related factor 1 APPROVED protein-coding ENSG00000105821 HGNC:13192 605502 REVIEWED 1348913 DNAJC5B DnaJ (Hsp40) homolog, subfamily C, member 5 beta PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane (inferred); INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; ethyl methanesulfonate; fonofos 8 8 8 q13.1 62925510 63004473 + 66933791 67012755 + 66021556 66100520 + 737633;1580863;6480464;6907045;8554872 12477932 15489334;17034881;17207965;22174851;22666496 85479 E5RGF4;Q9UF47 ABBA01041869;AC084082;AF368276;AL133660;AMYH02018103;AMYH02018104;AMYH02018105;AMYH02018106;BC016742;BG701336;BU627018;CH471068;NM_033105 AAH16742;AAK60571;ADQ32825;CAB63773;EAW86887;EAW86888;EAW86889;NP_149096;Q9UF47 Hs.491885 1337622;1339852;5021872;5022200;5037552;7184473 D8S2279;D8S533;D8S553;L18426;sY3084 CSP-beta;MGC26226 OTTHUMP00000226780;beta cysteine string protein;beta-CSP;cysteine string protein beta;dnaJ homolog subfamily C member 5B;dnaJ homolog subfamily C member X protein-coding ENSG00000147570 HGNC:24138 07474 613945 VALIDATED 1344057 DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010] 20 20 20 q13.33 59210381 59249259 + 62526455 62567384 + 63895102 63936031 + 1580863;6480464;6907045;8699517;7240710 10099709;10194413;11214971;11604405;11780052;12039948;12477932;14570907;14702039;14997482;15217342;15489334;15610015;15972823;16469739;16751776;17897319;18029348;18314541;18596047;19098309;19946888;20301334;20301601;20453918;21139048;21674799;21820099;21890473;21906983;21963094;21987572;22073189;22235333;22902780;22939629;22978711;23000965;23535732;24047968;24126164;24250222;2663281;3284607;8764987 80331 Q6AHX3;Q9H3Z4 ABBA01021429;ABBA01021430;ABBA01021431;ABBA01021432;ABBA01021433;AK023132;AK024508;AK074041;AK128776;AK289585;AL118506;AL137301;AMYH02037475;AMYH02037476;BC009922;BC028570;BC053642;CH471077;CR627461;DB452738;DQ596824;KF456985;NG_029805;NM_025219 AAH53642;BAB15798;BAB84867;BAF82274;BAG54730;CAH10594;EAW75191;EAW75192;EAW75193;NP_079495;Q9H3Z4 Hs.164419 1681161;1688040;1689692 RH39006;RH47533;RH64138 CLN4;CLN4B;CSP;DKFZp434N1429;DKFZp761N1221;DNAJC5A;FLJ00118;FLJ13070;NCL OTTHUMP00000031609;OTTHUMP00000031610;ceroid-lipofuscinosis, neuronal 4 (Kufs disease);cysteine string protein;cysteine string protein alpha;dnaJ homolog subfamily C member 5 APPROVED protein-coding ENSG00000101152 HGNC:16235 08539 162350;611203 REVIEWED 1348350 DNAJC30 DnaJ (Hsp40) homolog, subfamily C, member 30 This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68573462 68575995 - 73095248 73097781 - 73680918 73683451 - 1580600;1580863;6480464;8554872 12073013 12477932;12853948;14702039;15231747;15489334;17207965;20877624 84277 B3KSU4;Q96LL9 ABBA01063942;AC073846;AF412025;AK058113;AK094305;AMYH02016029;BC005056;CH471200;NM_032317 AAH05056;AAM62307;AAS07471;ADQ32669;BAB71671;BAG52856;EAW69658;NP_115693;Q96LL9 Hs.647046 1673110;1721337;2107763;2135266;5037552 D8S2279;G59668;RH36134;SHGC-56098;WBSCR18__5080 MGC12943;WBSCR18 OTTHUMP00000160500;Williams Beuren syndrome chromosome region 18;dnaJ homolog subfamily C member 30;williams-Beuren syndrome chromosomal region 18 protein APPROVED protein-coding ENSG00000176410 HGNC:16410 10303 REVIEWED 1318614 DNAJC4 DnaJ (Hsp40) homolog, subfamily C, member 4 INVOLVED IN response to unfolded protein (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH hydrogen peroxide; indometacin; testosterone enanthate 11 11 11 q13 61324605 61328604 + 63997594 64001753 + 64230281 64234281 + 1580863;6480464;8554872 11147971;12477932;15489334;17207965;17500595;19913121;20029029;20237496;20628086;20877624;21832049;9473517 3338 G3V1T1;H0YGV0;J3KNJ8;Q96FY5;Q9NNZ3 AA504260;ABBA01003290;AF012106;AF036874;AMYH02024931;AP001453;AP006334;BC010145;BC032137;BC044584;BC051008;BC053947;BC057849;BI561130;CH471076;NG_029823;NM_005528;XM_006718529;XM_006718530 AAB82426;AAF97845;AAH10145;AAH32137;AAH44584;AAH51008;AAH57849;ADQ32522;EAW74212;EAW74213;EAW74214;EAW74215;EAW74216;EAW74217;EAW74218;EAW74219;EAW74220;NP_005519;Q9NNZ3;XP_006718592;XP_006718593 Hs.172847 1681255;1706624 RH79811;SHGC-82715 DANJC4;HSPF2;MCG18;MGC19482;MGC57189;MGC71863 OTTHUMP00000236875;dnaJ homolog subfamily C member 4;dnaJ-like protein HSPF2;heat shock 40kD protein 2;multiple endocrine neoplasia type 1 candidate protein number 18 protein-coding ENSG00000110011 HGNC:5271 604189 VALIDATED 1351151 DNAJC8P1 DnaJ (Hsp40) homolog, subfamily C, member 8 pseudogene 1 14 14 14 q13.2 15762849 15764425 + 35898956 35900532 + 35429750 35431326 + 19773279 319111 ABBA01061504;AL133163;AMYH02029008;NG_002493 pseudo HGNC:19928 INFERRED 1316617 DNAJC5G DnaJ (Hsp40) homolog, subfamily C, member 5 gamma PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN membrane (inferred); INTERACTS WITH bisphenol A (ortholog); rosiglitazone (ortholog); troglitazone (ortholog) 2 2 2 p23.3 27344613 27350620 + 27498289 27505214 + 27275421 27281885 + 1580863;6480464;6907045 12477932;14702039;15489334 285126 B4DY29;B5MCA9;C9J078;Q8N7S2 ABBA01045199;AC013413;AF368277;AK097736;AK302239;AMYH02003473;AMYH02003474;BC035194;CH471053;HC006934;HC044673;NM_173650;XM_006711995;XM_006711996;XM_006711997;XM_006711998 AAH35194;AAK60572;AAY24295;BAC05155;BAG63591;CBH19272;CBH30666;EAX00608;EAX00609;NP_775921;Q8N7S2;XP_006712058;XP_006712059;XP_006712060;XP_006712061 Hs.116303 2110371 DNAJC5G_3736 CSP-gamma;FLJ40417 OTTHUMP00000122599;OTTHUMP00000201087;OTTHUMP00000201088;OTTHUMP00000201089;cysteine string protein-gamma;dnaJ homolog subfamily C member 5G;gamma cysteine string protein;gamma-CSP;gamma-cysteine string protein protein-coding ENSG00000163793 HGNC:24844 07108 613946 PROVISIONAL 1320495 DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008] 1 1 1 p31.3 64021163 64172220 + 65720133 65881552 + 65264694 65415869 + 1580863;6480464;6907045;8699517;7240710;8554872 11031247;11147971;11252894;11470803;12477932;12732633;15342556;15489334;15502813;16710414;18489706;19165527;19851296;20198315;22216198;22365833;22563501;22647716;23211418;24126164;24220513;24262182;8524399;9455477;9455484 9829 O75061;S4R305 AB007942;ABBA01074543;ABBA01074544;ABBA01074545;ABBA01074546;AC119800;AK296408;AL139294;AL355487;AMYH02001179;AMYH02001180;BC051722;BC109279;BC109280;BP311649;BQ423527;BX647203;CH471059;CR747692;DC332732;DR002818;NG_033843;NM_001256864;NM_001256865;NM_014787 AAH51722;AAI09280;AAI09281;BAA32318;BAH12344;EAX06533;EAX06534;EAX06535;EAX06536;EAX06537;NP_001243793;NP_001243794;NP_055602;O75061 Hs.647643 1336253;1681173;1692950;1735912;1755419;1759267;1856021;2166153;2169022;2170495;2170847;2187108;2218502 AL034190;D1S1927E;D1S2366;D1S2423;D1S2866;DNAJC6__3749;G16070;RH79652;SHGC-142296;SHGC-150970;SHGC-74914;SHGC-74940;SHGC-74946 DJC6;KIAA0473;MGC129914;MGC129915;MGC48436;PARK19 DnaJ (Hsp40) homolog, subfamily B, member 6;OTTHUMP00000010633;OTTHUMP00000010634;auxilin;dnaJ homolog subfamily C member 6;putative tyrosine-protein phosphatase auxilin APPROVED protein-coding ENSG00000116675 HGNC:15469 16326 608375;615528 REVIEWED 1312781 DNAJC9 DnaJ (Hsp40) homolog, subfamily C, member 9 INVOLVED IN social behavior; FOUND IN nucleus; INTERACTS WITH (+)-catechin; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 10 10 10 q22.2 68288205 68292648 - 75002582 75007025 - 73241693 73249226 - 1580863;6480464 10231032;11444854;12477932;14702039;17182002;19410544;19710015;19862764;20099975;20379614;21139048;21145461;21531385;21906983;21963094;22939629;23000965;24332808;24457600;24816145;25036637 23234 Q8WXX5 ABBA01020332;AC016394;AF327347;AK074420;AK094162;AMYH02023331;BC136507;CH471083;NM_015190;XM_006717734 AAI36508;AAL56008;BAB85076;BAG52832;EAW54483;EAW54484;EAW54486;NP_056005;Q8WXX5;XP_006717797 Hs.732485 1651844;2108025;2167393;5124837 DNAJC9_8008;RH69462;SHGC-35170;STS-H83690 HDJC9;JDD1;KIAA0974;SB73 DnaJ protein SB73;OTTHUMP00000019811;dnaJ homolog subfamily C member 9 protein-coding HGNC:19123 13237 611206 PROVISIONAL 1350903 DNAJC9-AS1 DNAJC9 antisense RNA 1 ASSOCIATED WITH Combined Oxidative Phosphorylation Deficiency 2 (inferred) 10 10 10 q22.2 68292743 68322547 + 75007125 75036742 + 73247367 73276984 + 8554872 12477932;15164054;15489334 414245 A6NH13 ABBA01020331;ABBA01020332;AC016394;AL512656;AMYH02023331;BC043233;HG502989;NR_038373 A6NH13 Hs.661857 1651844;1663069;1699268;1848095;2167393;5118444 D11S3316;RH103216;SHGC-35170;SHGC-64138;STS-H83690;STS-T51233 C10orf103;bA537A6.3 APPROVED ncrna ENSG00000236756 HGNC:31432 VALIDATED 1349384 DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the chaperone proteins heat shock proteins 70 and 90 in an ATP-dependent manner and may function as a co-chaperone. Pseudogenes of this gene are found on chromosomes 1 and 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 17 17 17 q11.2 36783139 36824767 - 40128439 40169715 - 41976421 42021371 - 1580863;6480464;8554872 10567422;11076863;11147971;11230166;11573955;12477932;12853476;15189447;15231748;15342556;15489334;15489336;15592455;15761153;16381901;17043677;18029348;18620420;19056867;19875381;19946888;20473970;20562859;20661446;20936779;21139048;21145461;21890473;21906983;21963094;21987572;22118674;22190034;22337587;22623428;22863883;22944692;22990118;23000965;23254330;23261415;23438482;24816145;25036637;8836031 7266 K7EIH8;K7EJ24;K7EJE9;K7EJL5;K7EJV7;K7EK03;K7ELJ8;K7EN19;K7ENB7;K7EPP7;K7EQ73;K7ER44;K7ESP1;Q99615 AB209834;ABBA01006441;ABBA01006442;AC105024;AC125257;AK291047;AK296602;AK298860;AK308016;AK316081;AMYH02033421;AMYH02033422;AMYH02033423;AMYH02033424;BC003601;BC011837;BC033772;BP378441;BQ445927;BX647209;CH471152;DB453150;NM_001144766;NM_003315;NR_029431;U46571;XM_006722050;XM_006722051;XM_006722052;XM_006722053;XM_006722054 AAB36872;AAH03601;AAH11837;AAH33772;ABM83990;ABM87316;BAD93071;BAF83736;BAG59215;BAG60982;BAH14452;CAL38388;EAW60788;EAW60789;NP_001138238;NP_003306;Q99615;XP_006722113;XP_006722114;XP_006722115;XP_006722116;XP_006722117 Hs.500156 1701046;1729159 G63900;RH104150 DANJC7;DJ11;DJC7;TPR2;TTC2 TPR repeat protein 2;dnaJ homolog subfamily C member 7;tetratricopeptide repeat domain 2;tetratricopeptide repeat protein 2 APPROVED protein-coding ENSG00000168259 HGNC:12392 601964 REVIEWED 1320134 DNAL1 dynein, axonemal, light chain 1 This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] 14 14 14 q24.3 54147655 54204739 + 74111578 74170431 + 73644875 73703728 + 737633;6480464;6907045;8699517;7240710;8554872 12477932 15489334;15845866;18187620;20301301;20379614;21496787;22018492;24250222;24816145 83544 G3V2M0;G3V389;G3V424;G3V5I4;H0YJD6;H0YM28;Q4LDG9 ABBA01030748;ABBA01030749;AC005225;AC006146;AC245368;AF542071;AI242197;AK026653;AK315392;AL833654;AMYH02029494;AMYH02029495;AMYH02029496;BC005343;BJ996719;BQ267448;CH471061;KF455939;NG_028083;NM_001201366;NM_031427 AAH05343;AAQ11377;ADZ15786;BAG37785;CAI46147;EAW81123;EAW81124;NP_001188295;NP_113615;Q4LDG9 Hs.271270 1338554;1653533;1658312;1663142;1665678;2137562;2142478;2159009;2165506;2166101;2177029;2180939;2185044;5015879;5016596;5020948;5022578;5037552;5093464;5109281;5117897 A009P18;D14S1004;D14S680E;D14S840;D1S1423;D1S1425;D8S2279;G30990;G32733;G35510;G35652;G38123;G38159;G38210;G38313;G38314;G38317;G38318;GDB:314949;GDB:631802;GDB:631813 C14orf168;CILD16;MGC12435 1700010H15RiK;OTTHUMP00000246635;OTTHUMP00000246885;axonemal dynein light chain;chromosome 14 open reading frame 168;dynein light chain 1, axonemal APPROVED protein-coding ENSG00000119661 HGNC:23247 16616 610062;614017 REVIEWED 736197 DNASE1 deoxyribonuclease I This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3909706 3914804 + 3661772 3712689 + 3640655 3662688 + 1580863;6480464;7240710 10381379;11241278;11332641;11474115;11479590;11707283;12005024;12477932;12708782;12849983;14613299;14688237;14702039;15188364;15333586;15363449;15489334;15616553;15711563;16352456;16382368;16449364;16751776;16771825;16877481;17032129;17320453;17360785;17405189;17588132;18174230;18311594;19022625;19055475;19181929;19318394;19360410;19362700;19844716;19863681;19913121;20417303;20439745;20628086;20800603;20856893;21233855;21235399;21282512;22094313;22479529;2251263;2277032;23183758;23215638;23225239;23273922;2349940;2395459;23963431;24206041;24819173;2921043;3263467;7625762;7762978;7789176;7867802;8586059;8792814;9420147 1773 B4DV35;I3L0Z9;I3L1N2;I3L298;I3L4B8;I3L4C7;I3L4U3;I3L530;P24855 AB188151;AB188152;ABBA01026745;AC005203;AC006111;AI378682;AJ298844;AK095412;AK126850;AK300914;AMYH02031296;BC015002;BC029437;BC064332;BC095475;BX648257;BX648480;CH471112;D83195;DQ584015;M55983;NG_009285;NM_005223;XM_005255148;XM_005255149;XM_006720852;XM_006720853;XM_006720854;XM_006720855;XR_243264 AAA63170;AAC24721;AAH29437;ABM83024;ABM86217;BAA11841;BAE96964;BAE96965;BAG62547;CAC12813;EAW85343;EAW85344;NP_005214;P24855;XP_005255205;XP_005255206;XP_006720915;XP_006720916;XP_006720917;XP_006720918 Hs.629638;Hs.733045 1335932;1658665;1688702;1699416;1745571;1745577;1745579;1745581;1791099;1791101;1791103;1791105;1791107;1791109;1791111;1791113;2181517;5015861;5017455;5022578;5037552;5095263;5095265;5109281;5117400;5117402;7185938 D10S16;D1S1423;D1S1425;D21S1903;D8S2279;GDB:545412;GDB:545415;GDB:624523;GDB:624528;GDB:624541;GDB:624544;GJK050719542;GJK050719543;GJK050719544;RH103299;RH45732;RH69144;SHGC-57870;csnpdnase1-pcr1-1;csnpdnase1-pcr2-1;csnpdnase1-pcr3-1;csnpdnase1-pcr4-1;csnpdnase1-pcr5-1;csnpdnase1-pcr6-1;csnpdnase1-pcr7-1;csnpdnase1-pcr8-1 DKFZp686H0155;DNL1;DRNI;FLJ38093;FLJ44902 DNase I, lysosomal;Dornase alfa;OTTHUMP00000159795;deoxyribonuclease-1;human urine deoxyribonuclease I APPROVED protein-coding HGNC:2956 00509 125505;152700 REVIEWED 1348755 DNASE1L1 deoxyribonuclease I-like 1 This gene encodes a member of the deoxyribonuclease family and the protein shows high sequence similarity to lysosomal DNase I. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008] X X X q28 153790635 153801484 - 153629579 153640428 - 154401238 154412090 - 1580863;6480464;8554872 10409440;11076863;11256614;12477932;15146197;15489334;15489336;15772651;16107205;16381901;17180083;19913121;20503202;20628086;20967767;24098122;24304513;24329527;8248200;8541839;8654957;8733135;9205125 1774 A3KQT1;A6QRJ0;E7ESG1;E7EUJ0;P49184;Q5HY40 ABBA01045287;ABBA01045288;AC245140;AL079680;BC001561;BC028092;BG468580;BI756240;BT019990;BX936347;CH471172;CN346700;L40817;L40823;NG_012884;NM_001009932;NM_001009933;NM_001009934;NM_006730;U06846;X87196;X90392;X90393;XM_005277829 AAB00495;AAB00496;AAB17022;AAH01561;AAH28092;AAV38793;ABM82607;ABM85792;CAA62037;CAL37693;EAW72731;EAW72732;EAW72733;EAW72734;EAW72735;NP_001009932;NP_001009933;NP_001009934;NP_006721;P49184;XP_005277886 Hs.401929;Hs.534404 1744617;1744619;1744621;1744623;1744625;1744627;1744629;1748021;1800854;1801638;1802074;1802856;1812434;1812626;1815410;1821726;1823750;1832566;1833514;2036838;2036840;2036842;2036844;2036846;2036848;2036850;2036852;2036854;2036856;2036858;2036860;2036862;2036864;2036866;2036868;2036870;2036872;2036874;2036876;2036878;2036880;2036882;2036884;2036886;2036888;2036890;2036892;2036894;2036896;2036898;2036900;2036902;2036904;2036906;2036908;2036910;2036912;2036914;2036916;2036918;2036920;2036922;2036924;2036926;2036928;2036930;2036932;2036934;2102510;2102512;2102514;2102516;2102518;2102520;5038074;5094492 ECD01292;ECD01698;ECD01918;ECD02316;ECD07224;ECD07323;ECD08741;ECD11949;ECD12967;ECD17423;ECD17900;G54829;G65815;GDB:548776;GDB:548777;GDB:548779;GDB:548780;GDB:548781;GDB:548782;GDB:548783;REN89429;REN89430;REN89431;REN89432;REN89433;REN89434;REN89435;REN89436;REN89437;REN89438;REN89439;REN89440;REN89441;REN89442;REN89443;REN89444;REN89445;REN89446;REN89447;REN89448;REN89449;REN89450;REN89451;REN89452;REN89453;REN89454;REN89455;REN89456;REN89457;REN89458;REN89459;REN89460;REN89461;REN89462;REN89463;REN89464;REN89465;REN89466;REN89467;REN89468;REN89469;REN89470;REN89471;REN89472;REN89473;REN89474;REN89475;REN89476;REN89477;REN89478;stSG604023;stSG604024;stSG604027;stSG604028;stSG604029;stSG604031 DNAS1L1;DNL1L;DNase X;G4.8;XIB DNASEX;DNase I, lysosomal-like;DNase I-like 1;DNase I-like, muscle-specific;OTTHUMP00000031940;OTTHUMP00000031941;OTTHUMP00000031943;OTTHUMP00000032113;OTTHUMP00000196448;deoxyribonuclease-1-like 1;muscle-specific DNase I-like APPROVED protein-coding ENSG00000013563 HGNC:2957 02096 300081 REVIEWED 1319504 DNALI1 dynein, axonemal, light intermediate chain 1 This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008] 1 1 1 p35.1 36300508 36310446 + 38022520 38032458 + 37556919 37566857 + 1580863;6480464;6907045 12477932;15383276;15489334;16169070;16710414;16990435;17207965;19944400;20379614;21832049;21900206;23455924;24144296;8125298;9284741 7802 B4DHN6;O14645 ABBA01023273;ABBA01023274;AF006386;AI128097;AK126963;AK225935;AK290502;AK295199;AK299918;AL034379;AMYH02000798;BC039074;BC046117;BX647913;CH471059;NM_003462;XM_005271172 AAB69193;AAH39074;AAH46117;ADQ33091;BAF83191;BAG58198;BAG61755;CAI46082;EAX07334;EAX07335;EAX07336;NP_003453;O14645;XP_005271229 Hs.406050 1656511;2108027;2171918;5024072 DNALI1_8761;SHGC-74608;SHGC-74618;SHGC-74625 P28;dJ423B22.5;hp28 OTTHUMP00000004400;axonemal dynein light intermediate polypeptide 1;dJ423B22.5 (axonemal dynein light chain (hp28));dynein, axonemal, light intermediate polypeptide 1;inner dynein arm light chain, axonemal;inner dynein arm, homolog of clamydomonas APPROVED protein-coding ENSG00000163879 HGNC:14353 03681 602135 REVIEWED 1343662 DNASE2 deoxyribonuclease II, lysosomal This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 12875733 12882043 - 12986025 12992409 - 12875211 12881521 - 1580863;6480464 10080942;10675544;10903447;11906178;12147225;12477932;12558498;12594037;12694199;12754519;12944971;15057824;15231747;1540651;15489334;15723160;1586130;16303743;17192590;17353931;18812394;21963094;22268729;22939629;23019102;24242851;6248503;9446563;9535749;9647784;9714827;9812984;9924608 1777 B7Z4K6;K7ENE5;O00115 AB004574;AB008564;ABBA01029763;ABBA01029764;AC020934;AD000092;AF045937;AF047016;AF060222;AK075449;AK297493;AK311145;AK315358;AMYH02035559;BC010419;BC065209;BT007047;BX394955;CH471106;FJ752529;NM_001375 AAB51172;AAC35751;AAC39852;AAC77366;AAH10419;AAH65209;AAP35696;ACN63522;BAA28623;BAB55598;BAG37753;BAG52141;BAH12592;EAW84320;EAW84321;EAW84322;NP_001366;O00115 Hs.118243 2144875;2148977;5015961 D15S1477;RH44826;RH65998 DNASE2A;DNL;DNL2 DNase II alpha;DNase II, lysosomal;R31240_2;acid DNase;deoxyribonuclease II alpha;deoxyribonuclease-2-alpha;lysosomal DNase II APPROVED protein-coding ENSG00000105612 HGNC:2960 00531 126350 REVIEWED 735307 DNCH2 dynein, cytoplasmic, heavy chain 2 ASSOCIATED WITH Short Rib-Polydactyly Syndrome (inferred); SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (inferred) 7240710 1779 263520;613091 1314401 DNAJC8 DnaJ (Hsp40) homolog, subfamily C, member 8 INVOLVED IN gene expression (inferred); mRNA splicing, via spliceosome (inferred); RNA splicing (inferred); FOUND IN nucleoplasm (inferred); INTERACTS WITH carbamazepine; diclofenac; hydralazine 1 1 1 p35.3 26922432 26955184 - 28526789 28559542 - 28200278 28233031 - 1580863;6480464 11147971;11790298;12226669;12234937;12477932;15489334;15635413;16159877;16344560;16710414;17332742;18850631;19471022;20098747;20360068;20379614;21139048;21693764;21832049;21890473;22863883;22939629;22944692;23602568;23940030;24163370;24816145 22826 O75937;Q9P1E0;S4R3J5 ABBA01035015;ABBA01035016;ABBA01035017;AF083190;AF161433;AF161449;AK300797;AL353354;AL353622;AMYH02000621;BC033159;BX538122;CH471059;CR456900;DB294321;NM_014280 AAC35352;AAF28993;AAF29009;AAH33159;BAG62456;CAG33181;EAX07707;EAX07708;EAX07709;EAX07710;NP_055095;O75937 Hs.433540 1656362;1749421;2164374;5111096;5117210 D3S3952;GDB:451788;RH64556;SHGC-111156;SHGC-74506 HSPC331;SPF31 OTTHUMP00000003646;dnaJ homolog subfamily C member 8;splicing protein spf31 protein-coding ENSG00000126698 HGNC:15470 13236 VALIDATED 1352622 DNCM DNA associated with cytoplasmic membrane 1061086;6278420 1784 HGNC:2967 126330 1607010 DNASE2B deoxyribonuclease II beta The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p22.3 83108430 83124879 + 84864215 84880691 + 84398532 84415008 + 6480464 11376952;11700027;12477932;12594037;12944971;20201924;20800603;21390259;22095909;22797925;23314748;23382691;23507146 58511 Q66K39;Q8WZ79 ABBA01045656;AF274571;AF333389;AF334602;AL359273;AMYH02001376;BC065182;BC080621;BC126136;BC126138;CH471097;NM_021233;NM_058248 AAF76893;AAH80621;AAI26137;AAI26139;AAL34448;AAL34449;ADR82973;EAW73238;EAW73239;NP_067056;NP_490649;Q8WZ79 Hs.129142 1778003 AL009630 DLAD DNase II beta;DNase II-like acid DNase;DNase2-like acid DNase;OTTHUMP00000011480;OTTHUMP00000011481;deoxyribonuclease-2-beta;endonuclease DLAD;lysosomal DNase II APPROVED protein-coding ENSG00000137976 HGNC:28875 09728 608057 REVIEWED 1319248 DNAL4 dynein, axonemal, light chain 4 DNAL4 is a component of the dynein motor complex (Iwasaki et al., 2005 [PubMed 15454493]).[supplied by OMIM, Mar 2008] 22 22 22 q13.1 22981164 22996813 - 39174513 39190161 - 38778508 38794156 - 1580863;6480464;6907045 10591208;11157096;12477932;12529303;15454493;15461802;15489334;16189514;16751776;18029348;21988832;23382691;8125298 10126 B0QXZ5;O96015 ABBA01055536;AK223349;AK290566;AL008583;AL035366;AMYH02038366;AMYH02038367;AY453399;BC002968;BT009847;BX473356;CH471095;CR456487;CR542177;CR542195;CS185552;NM_005740 AAH02968;AAP88849;AAS47516;BAD97069;BAF83255;CAA23018;CAG30373;CAG46974;CAG46992;CAJ42733;CAK54478;CAK54777;EAW60272;NP_005731;O96015 Hs.632766 1660479;2130835 D22S1550;WI-20171 PIG27 OTTHUMP00000198978;dynein light chain 4, axonemal;dynein light chain, outer arm 4;dynein, axonemal, light 4;dynein, axonemal, light polypeptide 4;proliferation-inducing gene 27;proliferation-inducing protein 27 APPROVED protein-coding ENSG00000100246 HGNC:2955 13239 610565 VALIDATED 1321748 DND1 DND microRNA-mediated repression inhibitor 1 This gene encodes a protein that binds to microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in tongue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17. [provided by RefSeq, Dec 2010] 5 5 5 q31.3 136127128 136129918 - 140050381 140053171 - 140670796 140673586 - 1580863;6480464 12477932;12932328;15489334;15902260;17464447;18069663;18155131;18160032;18414021;20411342;20816961;21851623;22614019;23890083 373863 Q8IYX4 ABBA01026423;AC116353;AMYH02012340;AY321065;BC033496;CH471062;NM_194249 AAH33496;AAQ63635;ABM83381;ABM86593;ABW03668;EAW62027;NP_919225;Q8IYX4 Hs.591262 1658667;1729009;2112204;2128329;5014931;5096224 D5S2775;Hars;RH70258;STS-H16567;WI-19187;WI-21153 MGC34750;RBMS4 OTTHUMP00000159880;RNA-binding motif, single-stranded-interacting protein 4;dead end homolog 1;dead end protein homolog 1 APPROVED protein-coding ENSG00000256453 HGNC:23799 13240 609385 REVIEWED 1348677 DND1P2 dead end homolog 1 pseudogene 2 17 17 17 q21.31 40982696 40983752 - 44336419 44337979 - 46259053 46260613 - 644256 ABBA01031213;AC005829;AC127032;AC243899;NG_022452 pseudo HGNC:31445 INFERRED 1602953 DNHD1L dynein heavy chain domain 1-like p15.4 387750 AC009796;AK074178;AK125885;AL137619;BX647806;XM_929181;XM_940957 BAB85004;CAB70845;Q8TEE6;XP_934274;XP_946050 Hs.424183 CCDC35;DKFZp686J0796 protein-coding HGNC:27280 1603156 DNHL1 dynein heavy chain-like 1 p11.2 12477932;14702039 284944 AC096770;AK094676;BC104884;BC113424;BC143666;CH471053;NM_173645 AAI04885;AAI13425;AAI43667;AAY24108;BAC04400;EAW99556;EAW99557;NP_775916 Hs.249972 FLJ37357 hypothetical protein flj37357 protein-coding HGNC:26738 08221 1318821 DNASE1L2 deoxyribonuclease I-like 2 ENCODES a protein that exhibits calcium ion binding (inferred); deoxyribonuclease activity (inferred); DNA binding (inferred); INVOLVED IN corneocyte development (inferred); DNA catabolic process, endonucleolytic (inferred); DNA metabolic process (inferred); FOUND IN cytoplasm (inferred); extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-); carmustine 16 16 16 p13.3 2500889 2503133 + 2286253 2288712 + 2236252 2238711 + 1580863;6480464 11141064;12477932;14702039;15203207;15489334;1577479;16902420;17474147;17490414;20503202;20967767;23161465;9205125 1775 H3BPU8;Q92874 ABBA01030268;AC009065;AK098028;AMYH02031248;AY298957;AY298958;BC035205;BC063710;CH471112;NM_001301680;NM_001374;U62647;XM_005255152;XM_006720856 AAB63981;AAH35205;AAH63710;AAQ73759;AAQ73760;AAQ73761;BAG53566;EAW85526;EAW85527;EAW85528;EAW85529;NP_001288609;NP_001365;Q92874;XP_005255209;XP_006720919 Hs.103503 1658853;1687113;1852087;2109271 E4F1_8318;RH47012;RH91723;STS-U62647 DNAS1L2 DNase I homolog protein DHP1;DNase I-like 2;deoxyribonuclease-1-like 2 protein-coding ENSG00000167968 HGNC:2958 04018 602622 VALIDATED 2289758 DNLZ DNL-type zinc finger ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; cyclosporin A 9 9 9 q34.3 109771288 109773177 - 139256352 139268111 - 136361900 136363811 - 6480464;8554872 12477932;18632665;21530495;22162012;23462535 728489 Q5SXM7;Q5SXM8 ABBA01022705;AI435052;AI696701;AL592301;AMYH02021900;BC146915;BC146924;BC171835;NM_001080849;NR_073565 AAI46916;AAI46925;NP_001074318;Q5SXM8 Hs.528581 C9orf151;HEP;HEP1;MGC87491;TIMM15;ZIM17;bA413M3.2 DNL-type zinc finger protein;HSP70 escort protein;OTTHUMP00000022587;RP11-413M3.2;hsp70-escort protein 1;mtHsp70-escort protein;translocase of inner mitochondrial membrane 15 homolog protein-coding ENSG00000213221 HGNC:33879 VALIDATED 733865 DNASE1L3 deoxyribonuclease I-like 3 This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 3 3 3 p14.3 58192880 58214912 - 58178353 58196730 - 58192626 58211003 - 1580863;6480464;8699517;8554872;7240710 11141064;12095301;12154052;12477932;12943533;14646506;14702039;14725611;15489334;15629432;16344560;16427601;19559017;19574717;20379614;20800603;21692081;22019780;23229555;23568457;23666765;24206041;24390342;9070308;9205125;9714828 1776 C9J0L2;C9J9N0;H7C4R7;Q13609 AB209613;ABBA01024392;ABBA01024393;AC137936;AF047354;AI591302;AI660448;AK131323;AK301263;AK313303;AMYH02006886;AMYH02006887;BC015831;BI521582;BI834035;CH471055;DB164811;NG_032070;NM_001256560;NM_004944;U56814 AAB63967;AAC35752;AAH15831;ABM83776;ABM87096;BAD92850;BAG36108;BAG54766;BAH13443;EAW65358;EAW65359;NP_001243489;NP_004935;Q13609 Hs.476453 5015619;5016596;5017415;5022450;5022578;5024039;5037552 D10S275;D11S3114;D16S325;D1S1423;D8S2279;GDB:631802;WI-8475 DHP2;DNAS1L3;LSD;SLEB16 DNase I homolog protein 2;DNase I homolog protein DHP2;DNase I-like 3;DNase gamma;LS-DNase;Liver and spleen DNase;OTTHUMP00000214190;OTTHUMP00000214191;OTTHUMP00000214193;deoxyribonuclease I-like III;deoxyribonuclease gamma APPROVED protein-coding ENSG00000163687 HGNC:2959 03764 602244;614420 REVIEWED 1605895 DNER delta/notch-like EGF repeat containing ENCODES a protein that exhibits clathrin binding (inferred); Notch binding (inferred); transmembrane signaling receptor activity (inferred); INVOLVED IN central nervous system development; PARTICIPATES IN Notch signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN dendrite; early endosome; plasma membrane; INTERACTS WITH 1-nitropyrene; 17beta-estradiol; 3,4-dichloroaniline 2 2 2 q36.3 223997841 224354753 - 230222345 230579286 - 229357629 229714570 - 6480464;6484113;8554872 11950833;11997712;12477932;12975309;15489334;15815621;16344560;16740002;20070733;20237496;20367751;23284291;23382691;23383108;24101674;9847074 92737 Q8NFT8 ABBA01050146;ABBA01050147;ABBA01050148;AC007559;AC007748;AC008273;AC093384;AF442487;AK289553;AK304596;AK304631;AK308576;AL137311;AMYH02005941;AMYH02005942;AMYH02005943;AMYH02005944;AMYH02005945;AMYH02005946;AY358891;BC024766;BC035009;CH471063;DA115906;DA400901;KF456774;KF456781;NM_139072;XM_005246950 AAF19247;AAH24766;AAH35009;AAM21557;AAQ89250;AAY14680;AAY14939;AAY24263;BAF82242;BAG65382;BAG65411;CAB70690;EAW70892;EAW70893;EAW70894;EAW70895;NP_620711;Q8NFT8;XP_005247007 Hs.234074 1338194;1339757;1342138;1694878;1707542;1720393;1721489;1723361;2148094;2157952;2176860;7188010 D2S2297;D2S260;D2S341;G44320;G58999;G59598;RH118498;SHGC-12275;SHGC-84582;STS-AA017104;WI-11124 UNQ26;bet H_NH0150O02.1;OTTHUMP00000204223;WUGSC:H_NH0150O02.1;delta and Notch-like epidermal growth factor-related receptor;delta-notch-like EGF repeat-containing transmembrane protein-coding ENSG00000187957 HGNC:24456 09531 607299 VALIDATED 1343943 DNM1DN10@ DNM1 duplicon 10 cluster 15008788 387545 HGNC:21127 1346567 DNM1DN11@ DNM1 duplicon 11 cluster 15008788 387546 HGNC:21128 1350627 DNM1DN13 DNM1 duplicon 13 15008788 387548 HGNC:21130 1349489 DND1P1 dead end homolog 1 pseudogene 1 17 17 q21.31 43663230 43664790 + 45585864 45587424 + 644157 ABBA01031184;AC126544;AC127032;AC225613;AC243807;KF456282;NG_022468 2153148 RH66726 pseudo HGNC:31444 INFERRED 1347520 DNM1DN14@ DNM1 duplicon 14 cluster 15008788 387549 HGNC:21131 1346994 DNM1DN20 DNM1 duplicon 20 15008788 387555 HGNC:21137 1601824 DNHD1 dynein heavy chain domain 1 ENCODES a protein that exhibits microtubule motor activity (inferred); INVOLVED IN metabolic process (inferred); microtubule-based movement (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; cadmium dichloride; hydralazine 11 11 11 p15.4 6637586 6712323 + 6517994 6593255 + 6497296 6572025 + 6480464;8554872 12477932;12693554;12975309;14702039;15489334;16344560;17525332;19056867;19850743;20379614;21507953;22990118;23725790;25036637 144132 B0I1S4;E9PJT4;E9PM64;J3KTE2;J3QRE5;Q96M86 AB231767;AB231768;AB231769;AB231770;AB231771;AB231772;AB231773;AB231774;AB231775;AB231776;AB231777;AB231778;AB290171;ABBA01028669;ABBA01028670;AC009796;AC084337;AK057314;AK074178;AK093028;AK096944;AK125885;AK128064;AL137619;AL137690;AL834222;AMYH02024270;AMYH02024271;AY358770;BC067363;BC082757;BC111765;BC117301;BC117303;BC143910;BF509041;BG676072;BX647806;BX648742;CH471064;DB074960;DB099871;NM_144666;NM_173589 AAI11766;AAI17302;AAI17304;AAQ89130;BAB71423;BAB85004;BAC04023;BAG06725;CAB70845;CAB70876;EAW68692;EAW68693;EAW68694;EAW68695;EAW68696;EAW68697;NP_653267;NP_775860;Q96M86 Hs.720080 1669086;1681752;2131221;2175815 D11S4585;RH99124;WI-11771;WI-14280 C11orf47;CCDC35;DHCD1;DKFZp434G0812;DKFZp686J0796;DKFZp686N1238;DNHD1L;FLJ00251;FLJ32752;FLJ35709;FLJ39625;FLJ43897;FLJ46184;MGC133191 DNHD1 variant protein;OTTHUMP00000164587;OTTHUMP00000230083;coiled-coil domain containing 35;dynein heavy chain domain 1-like;dynein heavy chain domain-containing protein 1 protein-coding ENSG00000179532 HGNC:26532 08137 VALIDATED 1353201 DNM1DN16@ DNM1 duplicon 16 cluster 15008788 387551 HGNC:21133 1343429 DNM1DN12@ DNM1 duplicon 12 cluster 15008788 387547 HGNC:21129 1353852 DNM1DN1@ DNM1 duplicon 1 cluster 15008788 387536 HGNC:18228 1353831 DNM1DN2@ DNM1 duplicon 2 cluster 15008788 387537 HGNC:21119 1351847 DNM1DN3@ DNM1 duplicon 3 cluster 15008788 387538 HGNC:21120 1351455 DNM1DN15@ DNM1 duplicon 15 cluster 15008788 387550 HGNC:21132 1351183 DNM1DN4@ DNM1 duplicon 4 cluster 15008788 387539 HGNC:21121 1349651 DNM1DN6 DNM1 duplicon 6 15008788 387541 HGNC:21123 1346865 DNM1DN7@ DNM1 duplicon 7 cluster 15008788 387542 HGNC:21124 1352851 DNM1DN21 DNM1 duplicon 21 15008788 387556 HGNC:21138 1343454 DNM1DN22 DNM1 duplicon 22 15008788 387557 HGNC:21139 1344898 DNM1DN8@ DNM1 duplicon 8 cluster 15008788 387543 HGNC:21125 1351640 DNM1P18 DNM1 pseudogene 18 22 22 22 q13.2 27093620 27095359 - 43183096 43184835 - 42787090 42788829 - 15008788 387553 ABBA01017924;AJ576285;AL049757;AMYH02038469;NG_009128 2218504 DNM1_4192 DNM1DN18 APPROVED pseudo HGNC:21135 INFERRED 733748 DNM1 dynamin 1 This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 9 9 9 q34 101616559 101668431 + 130965634 131017528 + 128203355 128255249 + 70725;1580863;6480464;6484113;6907045 2144893 10206341;10336464;10373452;10430869;10521508;10764144;10766777;10862698;10899172;10931822;10944110;11038180;11082044;11179417;11242086;11341978;11483962;11557983;11563969;11782545;11872741;11877424;11894096;11956154;12011079;12359736;12383797;12419186;12429846;12456676;12477932;12511974;12517701;12855954;12896979;14506234;14702039;14739229;15004222;15123615;15146195;15252009;15252117;15262989;15287745;15592455;15703209;15834155;15872089;16049941;16169070;16275660;16325581;16344560;16432212;16622417;16648839;16938290;17170701;17244534;17382318;17474147;17620599;17910478;18539136;18602423;18685082;18836734;18839057;18987626;19110265;19380485;19380743;19515832;19531213;19666604;19706678;19722700;19776347;19859085;20428113;20448150;20690924;21056892;21460182;21565611;21706016;21890473;21900206;21906983;21927000;21962517;22022400;22846998;22863883;23000965;23024787;23170932;23705820;23793749;24616919;24816145;24970086;7634088;7850421;7954789;8101525;8119878;8125298;8308025;9009162;9143509;9148966;9195986;9238017;9259551;9280305;9341169;9348539;9463375;9694653;9722593;9742220;9880482;9950691 1759 B4DK06;B7ZAC0;H7C5U0;Q05193 AB209124;ABBA01043872;AI660320;AK096629;AK127038;AK225179;AK295101;AK296326;AK308793;AK316235;AL590708;AMYH02021710;BC050279;BC063850;BG396820;CH471090;DA221568;DA510154;L07807;L07808;L07809;L07810;NG_029726;NM_001005336;NM_001288737;NM_001288738;NM_001288739;NM_004408;XM_005251763;XM_005251764;XM_005251768;XM_005251769;XM_006716992;XM_006716993;XM_006716994;XR_242572;XR_242573 AAA02803;AAA02804;AAA02805;AAA02806;AAH50279;AAH63850;BAD92361;BAG53342;BAG58137;BAG59018;BAH14606;EAW87759;EAW87760;NP_001005336;NP_001275666;NP_001275667;NP_001275668;NP_004399;Q05193;XP_005251820;XP_005251821;XP_005251825;XP_005251826;XP_006717055;XP_006717056;XP_006717057 Hs.522413 1342169;1675760;1679001;2152774;2218504;5015861;5015961;5124629;7185938 D10S16;D15S1477;D9S1827;D9S1983;DNM1_4192;RH79965;RH80223;RH80788 DNM OTTHUMP00000022236;OTTHUMP00000022237;OTTHUMP00000215498;OTTHUMP00000215499;OTTHUMP00000215500;dynamin-1 APPROVED protein-coding ENSG00000106976 HGNC:2972 03851 602377 REVIEWED 1348829 DNM1P17 DNM1 pseudogene 17 10 10 10 p11.23 30411010 30412840 + 30646083 30647913 + 30357154 30358984 + 15008788 100131084 ABBA01034348;AJ576284;AL161651;AMYH02022559;NG_009124 DNM1DN17;DNM1DN17@;FLJ10486 pseudo HGNC:21134 INFERRED 733618 DNM1L dynamin 1-like This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013] 12 12 12 p11.21 12653086 12719281 + 32832134 32898584 + 32679200 32745650 + 1580863;6480464;6907045;7240710;8699517;8554872 10749171;11514614;12477932;12499352;12499366;12618434;12668660;12861026;14741701;15356267;15364948;15383276;15791210;15824135;16010987;16169070;16874301;16936636;16999686;17301055;17332775;17408615;17460227;17553808;17606867;17682056;17718388;17721437;17906671;18330356;18353969;18465792;18599615;18695047;18838687;19074440;19342591;19407830;19409380;19492085;19525928;19946888;20103533;20179104;20379614;20428767;20467441;20649536;20683914;20696759;20826455;20850011;21139048;21145355;21145461;21172823;21292769;21325626;21336284;21459773;21525035;21615675;21693764;21701560;21816823;21840923;21890473;21903925;21956116;21997870;22005465;22020994;22053931;22228096;22340708;22367970;22428580;22438978;22445325;22487795;22511751;22583914;22595283;22745122;22863883;22955947;23000965;23027751;23028930;23185298;23284813;23288151;23334860;23349293;23434681;23492771;23516518;23524851;23530241;23582339;23584531;23641925;23658835;23667531;23713734;23921378;23977156;24080278;24121705;24250222;24252614;24302731;24681098;24797263;9348079;9422767;9570752;9731200;9742220;9786947 10059 B4DDQ3;B4DPZ9;B4DYR6;F8VR28;F8VUJ9;F8VYL3;F8VZ52;F8W1W3;G8JLD5;H0YHY4;H0YI79;O00429 AA236613;AB006965;AB209070;ABBA01031704;ABBA01031705;ABBA01031706;ABBA01031707;ABBA01031708;AC084824;AC087588;AF000430;AF061795;AF151685;AK123906;AK291094;AK293290;AK294533;AK298568;AK299926;AK302565;AK311606;AMYH02026306;AMYH02026307;BC024590;BC107763;BF725436;CH471116;DC377686;NG_012219;NM_001278463;NM_001278464;NM_001278465;NM_001278466;NM_005690;NM_012062;NM_012063;XM_005253282;XM_005253283 AAC23724;AAC35283;AAD39541;AAH24590;AAI07764;ABM82470;ABM85658;BAA22193;BAD92307;BAF83783;BAG56814;BAG57740;BAG60761;BAG61760;BAG63828;EAW88519;EAW88520;EAW88521;EAW88522;EAW88523;EAW88524;EAW88525;EAW88526;EAW88527;NP_001265392;NP_001265393;NP_001265394;NP_001265395;NP_005681;NP_036192;NP_036193;O00429;XP_005253339;XP_005253340 Hs.556296 1661078;1665489;1665491;1694656;1718331;1721041;2108029;2137431;2149193;2149281;2161633;2179234;5015619;5024756;5037552 A001X15;D11S3114;D12S2017;D8S2279;DNM1L_7961;G43506;G59502;RH123679;RH15679;RH48065;RH48067;RH80030;SGC30841;SGC33422;SHGC-2539 DLP1;DRP1;DVLP;DYNIV-11;EMPF;FLJ41912;VPS1 DYMPLE;Dnm1p/Vps1p-like protein;HDYNIV;OTTHUMP00000241158;OTTHUMP00000241159;OTTHUMP00000241160;OTTHUMP00000241161;OTTHUMP00000241162;OTTHUMP00000241168;OTTHUMP00000241170;dynamin family member proline-rich carboxyl-terminal domain less;dynamin-1-like protein;dynamin-like protein 4;dynamin-like protein IV;dynamin-related protein 1 APPROVED protein-coding ENSG00000087470 HGNC:2973 04833 603850;614388 REVIEWED 2303840 DNM1P28 DNM1 pseudogene 28 15 15 q13.2 30390454 30394304 - 30098251 30102101 - 15008788 100132031 AC120045;AC243949;AJ576300;AJ576304;NG_009142 DNM1DN3-1;DNM1DN3-3;DNM1DN3.1;DNM1DN3.3;DNM1DN3@ pseudo HGNC:35175 INFERRED 2302442 DNM1P26 DNM1 pseudogene 26 Y Y q11.23 27633654 27638610 + 25487507 25492463 + 15008788;9847074 100216507 AC006328;AJ576281;NG_004755 DNM1DN16-1;DNM1DN16@ pseudo HGNC:35173 VALIDATED 1343725 DNM1P19 DNM1 pseudogene 19 12 12 12 q23.1 100212646 100215409 + 100547374 100550137 + 100153596 100156359 + 15008788 387554 ABBA01053263;AC010203;AJ576286;AMYH02027053;NG_009129 1657766;1665109;1712320;1787756 G30583;G54069;RH79243;SHGC-173374 DNM1DN19 APPROVED pseudo HGNC:21136 INFERRED 2302443 DNM1P25 DNM1 pseudogene 25 Y Y q11.223 26392429 26394025 + 24246282 24247878 + 15008788 100216506 AC012005;AJ576280;NG_004755 DNM1DN15-3;DNM1DN15@ pseudo HGNC:35172 VALIDATED 2302444 DNM1P24 DNM1 pseudogene 24 Y Y q11.223 26323690 26328779 - 24177543 24182632 - 15008788 100216505 AC023274;AJ576278;NG_004755 DNM1DN15-1;DNM1DN15@ pseudo HGNC:35171 VALIDATED 2302455 DNM1P29 DNM1 pseudogene 29 15 15 15 q13.2 1 3766 + 30685549 30690597 + 30393346 30398394 + 15008788 100132204 AC019322;AC243687;AJ576303;NG_009141 DNM1DN3-2;DNM1DN3.2;DNM1DN3@ pseudo HGNC:35176 INFERRED 2302257 DNM1P30 DNM1 pseudogene 30 15 15 15 q13.2 1 1903 - 30443100 30446313 - 30150897 30154110 - 15008788 728388 AC120045;AC243790;AJ576305;AJ576308;NG_009071 DNM1DN3-4;DNM1DN3.4;DNM1DN3@;DNM1DN4-3;DNM1DN4@ pseudo HGNC:35177 INFERRED 2302441 DNM1P27 DNM1 pseudogene 27 Y Y q11.23 27568100 27569993 - 25421953 25423846 - 15008788;9847074 100216514 AC006328;AJ576283;NG_004755 DNM1DN16-3;DNM1DN16@ pseudo HGNC:35174 VALIDATED 2302445 DNM1P33 DNM1 pseudogene 33 15 15 15 q23 51228444 51230012 + 74356030 74358099 + 74063689 74065758 + 12477932;15008788 554175 ABBA01038702;AC013486;AJ576301;AMYH02030787;NG_009156 1675760 RH79965 DNM1DN7-2;DNM1DN7@ pseudo HGNC:35180 INFERRED 2302440 DNM1P36 DNM1 pseudogene 36 15 15 q25.2 82731700 82733632 - 82439500 82441433 - 15008788 100216515 AC010724;AC135995;AC243919;AJ576253;NG_009135 DNM1DN8-3;DNM1DN8@ pseudo HGNC:35186 INFERRED 2302536 DNM1P35 DNM1 pseudogene 35 15 15 15 q24.2 52950883 52958182 - 76020011 76032418 - 75727670 75740077 - 11181995;14702039;15008788 100128285 ABBA01060538;AC019294;AF357221;AJ576252;AK091244;AMYH02030821;EG328024;HG507261;NR_024595 AAK43707 Hs.604066 DNM1DN8-2;DNM1DN8.2;DNM1DN8@;FKSG88;FLJ33925;RP11-24M17.7 pseudo ENSG00000246877 HGNC:35182 VALIDATED 2307388 DNM1P34 DNM1 pseudogene 34 ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); INVOLVED IN GTP catabolic process (inferred); FOUND IN microtubule (inferred) 15 15 15 q24.2 52516925 52521702 - 75590484 75595261 - 75298143 75302920 - 15008788;15489334;16572171 729809 Q6PK57 ABBA01060520;AC068338;AJ576251;AJ576255;AMYH02030813;NG_009143 Q6PK57 1675760 RH79965 DNM1DN8-1;DNM1DN8-5;DNM1DN8@ pseudo HGNC:35181 INFERRED 2302438 DNM1P38 DNM1 pseudogene 38 15 15 15 q25.2 61377962 61381092 + 82814261 82817391 - 82529853 82532983 - 15008788;9847074 100216517 ABBA01029417;AC010724;AC135995;AC245033;AJ576264;AJ576269;NG_009137 DNM1DN10-2;DNM1DN10@;DNM1DN11-8;DNM1DN11@;DNM1P42 pseudo HGNC:35188 INFERRED 2302437 DNM1P39 DNM1 pseudogene 39 15 15 15 q25.2 3496 3535 - 83004753 83008034 + 125108 128389 + 15008788;9847074 100216518 AC011295;AJ576259;NG_009138 DNM1DN11-3;DNM1DN11@ pseudo HGNC:35189 INFERRED 2303461 DNM1P31 DNM1 pseudogene 31 15 15 15 q13.3 11624097 11624719 + 32679619 32680237 + 32387418 32388036 + 15008788 644153 AC139426;AJ576307;NG_009133 DNM1DN4-2;DNM1DN4.2;DNM1DN4@ pseudo HGNC:35178 INFERRED 2302436 DNM1P42 DNM1 pseudogene 42 15 15 q25.2 61377936 61381090 + 83198606 83201760 - 15008788;9847074 100216541 AC010724;AJ576264;NG_009144 DNM1DN11-8;DNM1DN11@ pseudo HGNC:35192 INFERRED 2302261 DNM1P43 DNM1 pseudogene 43 15 15 q25.2 82927158 82928975 + 82337477 82339294 + 15008788 100216466 AC126339;AC243919;AJ576266;NG_009070 DNM1DN11-10;DNM1DN11@ pseudo HGNC:35193 INFERRED 1605267 DNM1P46 DNM1 pseudogene 46 ENCODES a protein that exhibits GTPase activity (inferred); INVOLVED IN GTP catabolic process (inferred); FOUND IN microtubule (inferred); INTERACTS WITH atrazine 15 15 15 q26.3 76749299 76760211 - 100330361 100347132 - 99790156 99806927 - 12477932;15008788;16751776 196968 Q8NDG8 ABBA01020549;ABBA01020550;AC090825;AJ576275;AK127834;AK302717;AL833912;AMYH02031155;BC101078;BC101080;BC101081;DQ570389;DQ570648;DQ570906;DQ573357;DQ573816;DQ574076;DQ577250;DQ577301;DQ578455;DQ578707;DQ580346;DQ582608;DQ582609;DQ583826;DQ583953;DQ586021;DQ586866;DQ588379;DQ588380;DQ589305;DQ591025;DQ591122;DQ591895;DQ593340;DQ593580;DQ593581;DQ593785;DQ594239;DQ594648;DQ597102;DQ597457;DQ597596;DQ597688;DQ598091;DQ598534;DQ601651;NR_003260 BAC87154;BAG63937;CAD38768;Q6ZS02 Hs.567763;Hs.585319 C15orf51;DKFZp434I1020;DNM1DN14.2;DNM1DN14@;FLJ45937;FLJ54911;MGC119618 APPROVED pseudo ENSG00000182397 HGNC:35199 13192 PROVISIONAL 2302449 DNM1P40 DNM1 pseudogene 40 15 15 q25.2 85046982 85049663 + 84503751 84506432 + 12477932;15008788 400433 AC048382;AC244519;AJ576261;NG_009132 DNM1DN11-5;DNM1DN11.5;DNM1DN11@ pseudo HGNC:35190 INFERRED 2302435 DNM1P45 DNM1 pseudogene 45 15 15 q25.3 85794010 85796487 - 85250779 85253256 - 15008788 100216542 AC044860;AJ576271;AMYH02030963;NG_009145 DNM1DN12-2;DNM1DN12@ pseudo HGNC:35195 INFERRED 2302434 DNM1P46 DNM1 pseudogene 46 ENCODES a protein that exhibits GTPase activity (inferred); INVOLVED IN GTP catabolic process (inferred); FOUND IN microtubule (inferred) 15 q26.3 100336533 100339772 - 15008788 100216543 Q6ZS02 AC090825;AJ576275;NG_009146 1717303 RH122066 DNM1DN14.2;DNM1DN14@ pseudo HGNC:35199 4144529 DNM1P48 DNM1 pseudogene 48 Y Y 27632675 27633374 + 25486528 25487227 + 100418739 AC006328;NG_004755 pseudo HGNC:38801 VALIDATED 7243493 DNM1P49 DNM1 pseudogene 49 15 15 15 q24.2 53009579 53010728 - 76083858 76085024 - 75791517 75792683 - 16572171 730058 ABBA01060539;AC019294;AMYH02030821;NG_033232 1794350 PMC311040P14 DNM1DN8@ pseudo ENSG00000261820 HGNC:47040 INFERRED 7256459 DNM1P50 DNM1 pseudogene 50 15 15 30862322 30863924 - 30568620 30571486 - 100996420 ABBA01121824;AC026150;AC243679;XM_006710248;XM_006720817;XM_006725569;XM_006726568;XR_430886 XP_006710311;XP_006720880;XP_006725632;XP_006726631 protein-coding HGNC:48499 MODEL 2303457 DNM1P44 DNM1 pseudogene 44 15 15 q25.2 84980851 84982344 + 84426152 84427645 + 15008788 440303 AC136704;AC243562;AJ576312;AMYH02030951;NG_009148 DNM1DN11-13;DNM1DN11.13;DNM1DN11@ pseudo HGNC:35194 INFERRED 2302439 DNM1P37 DNM1 pseudogene 37 15 15 15 q25.1 55965952 55970115 - 79029473 79033636 - 78737131 78741294 - 15008788;24262325 100216516 ABBA01060594;AC022748;AJ576268;AMYH02030866;NG_009136 2117122 STS-N25045 DNM1DN10-1;DNM1DN10@ pseudo HGNC:35187 INFERRED 1346176 DNM1P5 DNM1 pseudogene 5 15 15 15 q14 11621586 11624402 + 34812808 34815624 + 34520607 34523423 + 15008788 728770 ABBA01038530;AC027139;AJ576290;AMYH02030169;NG_009127 DNM1DN5;DNM1DN5@ pseudo HGNC:21122 INFERRED 2302433 DNM1P47 DNM1 pseudogene 47 15 15 15 q26.3 78727671 78731309 + 102304917 102308541 + 101764714 101768338 + 15008788 100216544 ABBA01020516;ABBA01020517;AC107977;AC246818;AJ576276;NG_009149 DNM1DN14-3;DNM1DN14@ pseudo HGNC:35200 INFERRED 6481118 DNM3-IT1 DNM3 intronic transcript 1 (non-protein coding) q24.3 100874284 AA868330;AL031864 ncrna HGNC:41494 2302832 DNM1P41 DNM1 pseudogene 41 15 15 15 q25.2 2999 3535 - 84835299 84839736 - 84166547 84170984 - 15008788 440299 ABBA01000296;AC136698;AJ576262;AL137524;AMYH02030945;NR_033787 Hs.454641 5091126 RH65781 DKFZp434H2218;DNM1DN11-6;DNM1DN11.6;DNM1DN11@ pseudo HGNC:35191 VALIDATED 1354127 DNM3 dynamin 3 This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 1 q24.3 144920019 145491322 + 171810618 172387606 + 171841478 172418466 + 1580863;6480464;6907045;8554872 10048485;11076863;11230166;12168954;12383797;12477932;12511974;12517701;14702039;14760703;14762214;15252009;15489336;16381901;16710414;17474147;17880892;18033314;18391951;18602423;18602463;19007685;19266077;19380743;19617259;19820697;20379614;20546612;20700106;20881960;20935629;21117066;21548129;21671749;21706016;21890473;21906983;22139419;22297481;22393045;22504420;22846998;22972982;23170932;23383273;23563607;24026423;24250222;24816145;9722593;9808459 26052 E5RHK8;E5RIK2;H0YBC6;Q9UQ16 AB020627;ABBA01027919;ABBA01027920;ABBA01027921;ABBA01027922;ABBA01027923;AK056279;AK307806;AK308992;AL031864;AL035110;AL121984;AL133514;AL136712;AL137157;AL445990;AL512843;AMYH02002144;AMYH02002145;AMYH02002146;AMYH02002147;BC037326;BC047089;BC064546;BQ723087;CH471067;DC316799;DC334207;NM_001136127;NM_001278252;NM_015569;XM_005245079;XM_005245080;XM_005245081;XM_005245082;XM_005245084;XM_006711268;Z97195 AAH64546;BAA74843;BAG51664;CAB66647;CAL38543;CAL38721;EAW90915;EAW90916;EAW90917;EAW90918;EAW90919;EAW90920;EAW90921;EAW90922;NP_001129599;NP_001265181;NP_056384;Q9UQ16;XP_005245136;XP_005245137;XP_005245138;XP_005245139;XP_005245141;XP_006711331 Hs.654775 1647038;1666543;1667211;1682137;1686766;1692816;1692840;1692866;1692868;1692876;1692878;1692880;1692882;1692884;1692886;1692890;1705420;1716515;1717229;1717771;1733708;1763753;2116868;2122520;2122522;2130408;2217274;5021928 A001V21;D1S1717;D1S3590;DNM3_3569;G19683;G42274;G42287;G42300;G42301;G42305;G42306;G42307;G42308;G42309;G42310;G42312;RH121543;RH121794;RH122029;RH28587;RH98443;SHGC-147432;SHGC-75905;SHGC-75906;SHGC-75910;SHGC-83574;WI-3733;ha3288 Dyna III;KIAA0820;MGC70433 OTTHUMP00000032875;OTTHUMP00000032876;OTTHUMP00000032877;OTTHUMP00000226534;OTTHUMP00000226535;T-dynamin;dynamin family member;dynamin, testicular;dynamin-3 APPROVED protein-coding ENSG00000197959 HGNC:29125 13241 611445 REVIEWED 2302459 DNM1P32 DNM1 pseudogene 32 15 15 15 q13.3 1 3766 + 32726949 32731944 + 32434748 32439743 + 15008788 100132100 AC135983;AC244200;AJ576310;NG_009139 DNM1DN4-5;DNM1DN4.5;DNM1DN4@ pseudo HGNC:35179 INFERRED 5490443 DNM3OS DNM3 opposite strand/antisense RNA INTERACTS WITH all-trans-retinoic acid 1 1 q24.3 172106019 172114138 - 172136879 172144835 - 6480464 14702039;15885504;16344560;19029138;20400975 100628315 ABBA01027921;AK021543;AL137157;AMYH02002145;AU311708;DB261523;FJ623959;HG492927;NR_038397;NR_103486 Hs.584880 DNM3-AS1;MIR199A2HG;RP5-1116C7.1 APPROVED ncrna ENSG00000230630 HGNC:41228 VALIDATED 1354101 DNM1P9 DNM1 pseudogene 9 15 15 15 q24.3 55134687 55140131 + 78198543 78203963 + 77906201 77911621 + 15008788 400403 ABBA01060575;AC104758;AJ576256;AMYH02030856;NG_009125 1679001 RH80223 DNM1DN9;DNM1DN9-1;DNM1DN9@ pseudo HGNC:21126 INFERRED 2300361 DNMBP-AS1 DNMBP antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 10 10 10 q24.2 95424990 95456778 + 101686966 101718755 + 99927209 99958998 + 8554872 14702039 100188954 ABBA01063239;ABBA01063240;AK098111;AL441886;AL627434;AMYH02023650;HG503199;NR_024130 Hs.656104 1755159;2118578;5014063 D15S1390;SHGC-142082;SHGC-17231 NCRNA00093;bA287G8.2 APPROVED ncrna HGNC:20431 PREDICTED 1349665 DNMBP dynamin binding protein DNMBP belongs to the DBL (MIM 311030) family of guanine nucleotide exchange factors and plays a role in the regulation of cell junctions (Otani et al., 2006 [PubMed 17015620]).[supplied by OMIM, Mar 2008] 10 10 10 q24.2 95373310 95507635 - 101635334 101769676 - 99875577 100009953 - 6480464;8554872 10220577;10231032;12477932;14506234;15302935;15489334;16385451;16413298;16740596;17015620;17442457;18359537;18452187;18654987;19807924;21677511;21906983;21963094;22745667;22863883 23268 B4E0Q3;Q5SVK9;Q6XZF7 AA771860;AB023227;ABBA01063238;ABBA01063239;ABBA01063240;ABBA01063241;AK128576;AK303479;AL392107;AL441886;AL627434;AL833283;AMYH02023648;AMYH02023649;AMYH02023650;AY196211;BC041628;CH471066;NM_015221;XM_006717735;XM_006717736 AAH41628;AAP34307;BAA76854;BAG54695;BAG64515;EAW49849;EAW49850;NP_056036;Q6XZF7;XP_006717798;XP_006717799 Hs.500771 1645785;1658920;1676716;1755159;2118578 G17409;G17439;RH93813;SHGC-142082;SHGC-17231 ARHGEF36;KIAA1010;RP11-114F7.3;TUBA OTTHUMP00000020271;dynamin-binding protein;scaffold protein TUBA APPROVED protein-coding ENSG00000107554 HGNC:30373 10918 611282 VALIDATED 1351585 DNMT3AP1 DNA methyltransferase 3A pseudogene 1 2 2 2 p14 66895732 66898482 - 67047013 67049760 - 66819881 66822628 - 1304004 15203217 18683034 130802 ABBA01075461;AC009474;AMYH02003993;BN000391;NG_004680 1337409 D2S1772 pseudo HGNC:23164 INFERRED 1606037 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] 20 20 20 q11.2 28104119 28151087 + 31350191 31397162 + 32762385 32809356 + 6480464;6907045;7240710;7242551;8554872;8699517;8695943;8695944 22342103;22770212;24825349 10325416;10433969;10555141;10588719;10647011;11076863;11102980;11350943;11735126;11780052;11932749;11934864;12015329;12110732;12145218;12202768;12208751;12239717;12359337;12477932;12601140;12738984;12777184;12867029;12879017;12925568;14555514;14559786;14702039;14752048;15105426;15120635;15148359;15217506;15375549;15467427;15490234;15528220;15580563;15688037;15721400;15854647;15962389;16004934;16012746;16085498;16194411;16211278;16328059;16331260;16357870;16463117;16481298;16501171;16501248;16543361;16682412;16773201;16920385;16951144;16951151;17017004;17067458;17081533;17149367;17277043;17303076;17318376;17353906;17369845;17470536;17532557;17538945;17687327;17688412;17705213;17890317;17967891;17972916;17991895;17998942;18006804;18023104;18029348;18029387;18095639;18097598;18221536;18253830;18268116;18336997;18367714;18407600;18413740;18414412;18437543;18452947;18455294;18499700;18544619;18563322;18567530;18639864;18662374;18683034;18762900;18829110;19019622;19024105;19064572;19107573;19124506;19211935;19246518;19326430;19399408;19451595;19465161;19465937;19470733;19482874;19502167;19517237;19576953;19620278;19626461;19680556;19696477;19763880;19777235;19786833;19789190;19798101;19798569;19825994;19843671;19854132;19896490;19932585;20127025;20375073;20381114;20381446;20398054;20398055;20426865;20428781;20448464;20453000;20454457;20480259;20506537;20514408;20593030;20819778;20833755;20838592;20847044;20923784;20952535;20960050;20966256;20970125;20980350;21041608;21081840;21106767;21154337;21211326;21229291;21304883;21406692;21482616;21490393;21519807;21521786;21549127;21559330;21592522;21698279;21712824;21757290;21854760;21887463;21900206;21906983;21909138;21938431;21963094;22009713;22048249;22055183;22056872;22064703;22072770;22094255;22207353;22236544;22244828;22272627;22301400;22349384;22378288;22394436;22490141;22520950;22547080;22563479;22572543;22664488;22768205;22810147;22815530;22885766;22898819;23000068;23000965;23025623;23039890;23049596;23079992;23081874;23100393;23128233;23251566;23393137;23486536;23527680;23545144;23636939;23677709;23708667;23820632;23894490;24001151;24069326;24094886;24098518;24127215;24178910;24201117;24260492;24316981;24333507;24362509;24457336;24459426;24603304;9662389 1789 Q9UBC3 AB208880;ABBA01019253;AF129267;AF129268;AF129269;AF156487;AF156488;AF176228;AF331857;AK001191;AK295176;AK299776;AK299821;AK299915;AK300857;AL035071;AMYH02036941;AMYH02036942;CH471077;DQ321787;L32168;NG_007290;NM_001207055;NM_001207056;NM_006892;NM_175848;NM_175849;NM_175850 AAD31432;AAD31433;AAD31434;AAD53062;AAD53063;AAF04015;AAI11934;AAI18503;AAL57040;ABC48951;BAD92117;BAG50865;BAG58185;BAG61659;BAG61690;BAG61753;BAG62507;EAW76350;EAW76351;EAW76352;EAW76353;EAW76354;EAW76355;EAW76356;NP_001193984;NP_001193985;NP_008823;NP_787044;NP_787045;NP_787046;Q9UBC3 Hs.643024;Hs.713611 2107021;2184602 D20S1126;DNMT3B_7782 ICF;ICF1;M.HsaIIIB DNA (cytosine-5)-methyltransferase 3B;DNA MTase HsaIIIB;DNA methyltransferase HsaIIIB;OTTHUMP00000030604;OTTHUMP00000030605;OTTHUMP00000030606;OTTHUMP00000164397 APPROVED protein-coding ENSG00000088305 HGNC:2979 04209 242860;602900 REVIEWED 1354178 DNMT1 DNA (cytosine-5-)-methyltransferase 1 DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 19 19 19 p13.2 10139454 10201147 - 10244021 10305783 - 10133345 10195079 - 1580863;2301221;2301220;6480464;6907045;7242551;8699517;7240710;8554872;8695943;8695944 14634451;17196739;22342103;22770212;24825349 10325416;10444590;10449766;10615135;10753866;10888872;10888886;10947852;11222358;11399088;11748221;11834837;11847125;11932749;12145218;12171929;12354094;12473678;12477932;12496760;12530095;12538344;12548018;12576480;12594811;12637155;12711675;12712445;12738984;12789259;12804601;12867029;14559786;14577574;14583449;14684836;14702039;14734556;14760703;14978102;15057824;15087453;15120635;15161933;15220328;15289832;15302935;15313181;15340041;15375672;15526354;15635413;15657147;15688037;15696166;15735013;15755728;15762053;15790807;15799776;15870198;1594447;15956212;16053511;16085498;16169070;16227093;16314526;16322686;16344560;16357870;16423997;16424002;16497664;16537562;16769694;16801630;16861352;16897079;16916647;16960727;16963560;16998846;17015478;17030625;17053888;17067458;17081533;17081983;17085482;17093909;17124180;17178861;17250953;17312023;17322882;17470536;17492476;17532557;17538945;17657744;17673620;17698033;17707923;17716861;17893234;17931718;17934516;17965595;17967891;17972916;17991895;18038118;18049164;18095639;18158899;18198215;18202356;18204201;18252747;18253830;18404674;18413740;18414412;18499700;18505931;18563322;18567946;18680430;18754681;18781797;18829110;18931722;19016755;19019634;19064572;19124506;19161160;19173286;19211935;19236003;19246518;19275888;19279403;19282482;19292979;19339266;19386473;19394279;19399408;19399937;19424621;19450230;19465937;19468253;19471022;19531213;19531770;19539327;19615732;19763880;19798569;19800870;19896490;19932585;19936946;19943104;19957555;20044957;20071334;20071580;20081831;20093774;20147412;20192566;20192608;20228804;20301312;20335008;20354000;20381114;20398055;20428781;20467438;20570896;20588031;20592467;20593030;20613874;20620135;20840813;20875141;20920981;20937307;20940144;20951977;20970125;20980350;21042757;21045206;21078759;21139048;21151116;21163962;21229291;21252943;21266713;21268065;21282530;21296890;21311766;21316665;21321201;21347439;21353307;21378168;21389349;21395176;21406692;21458988;21459093;21478913;21523767;21532572;21539677;21565170;21565830;21573703;21592522;21619587;21628590;21636528;21670149;21735817;21745816;21756783;21757290;21791605;21826395;21887463;21890473;21900206;21906983;21947282;21962230;21963094;21966451;21999220;22048249;22055183;22064703;22072770;22094255;22110720;22135303;22167392;22219193;22236544;22264301;22274925;22278882;22295098;22301400;22317856;22328086;22338191;22349384;22362755;22403725;22411829;22455563;22505724;22520950;22547080;22586326;22606318;22739025;22768205;22795133;22879518;22894906;22898998;22975348;23000965;23038753;23039890;23041765;23049933;23064049;23072722;23079992;23125218;23127209;23242655;23249948;23254386;23318422;23364257;23365052;23393137;23463006;23478041;23545144;23548901;23549984;23624957;23652987;23666104;23671287;23706494;23708667;23771421;23775084;23820632;23846337;23867713;23918800;23938174;23990460;24001151;24038143;24094292;24098518;24107992;24247422;24250222;24368767;24449497;24459426;24475290;24492612;24502362;24515776;24782312;24816145;24875904;24958773;25027693;3210246;7760804;8940105;9302295;9333948 1786 F5GX68;I6L9H2;K7EIZ6;K7EJL0;K7EKC3;K7ELB1;K7EMU8;K7ENQ6;K7ENW7;K7EP77;K7ER10;K7ERQ1;P26358 AB209413;ABBA01029946;ABBA01029947;AC010077;AC011511;AC020931;AF180682;AF290894;AK122759;AMYH02035485;AMYH02035486;AY927518;BC092517;BC126227;BC144093;CH471106;DA653750;NG_028016;NM_001130823;NM_001379;X63692;XM_006722681 AAD54507;AAF23609;AAH92517;AAI26228;AAI44094;BAD92650;BAG53712;CAA45219;EAW84079;EAW84080;NP_001124295;NP_001370;P26358;XP_006722744 Hs.202672 2128269;2143666 D19S830;RH18124 AIM;CXXC9;DNMT;FLJ16293;HSN1E;MCMT;MGC104992;m.HsaI ADCADN;CXXC finger protein 9;CXXC-type zinc finger protein 9;DNA (cytosine-5)-methyltransferase 1;DNA MTase HsaI;DNA methyltransferase 1;DNA methyltransferase HsaI APPROVED protein-coding ENSG00000130816 HGNC:2976 00532 126375;604121;614116 REVIEWED 1606038 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 2 p23 25296144 25405816 - 25451421 25565459 - 25228552 25342590 - 6480464;6907045;7242551;8699517;8695943;8695944;8554872 22342103;22770212;24825349 10325416;10433969;11350943;11834837;11934864;12138111;12145218;12359337;12383256;12406579;12477932;12481029;12496760;12711675;12738984;12777184;12867029;14752048;15105426;15616584;15688037;15721400;15799776;15854647;15861382;16173030;16322236;16331260;16357870;16682412;16769694;16983096;16998846;17081533;17081983;17175537;17439403;17470536;17538945;17548962;17687327;17688412;17713477;17890317;17972916;17998942;18029348;18253830;18381459;18391951;18829110;19064572;19070387;19124506;19139273;19161160;19211935;19234465;19246518;19394279;19451595;19468253;19620278;19625655;19638978;19680556;19763880;19786833;19798101;19834512;19921333;20128888;20147412;20223770;20227382;20228804;20381114;20381446;20426865;20467490;20473858;20560050;20570913;20593030;20620135;20630873;20838592;20847044;20923784;20951977;20966256;20970125;20980350;21044950;21067377;21102463;21304883;21399634;21406692;21415852;21504050;21518476;21519343;21537334;21670448;21674242;21685466;21745816;21826395;21828135;21859430;21880635;21880636;21887463;21890473;21967546;21979949;21980299;21981547;21993668;22021454;22048249;22055183;22064703;22066015;22077061;22081665;22086334;22110720;22124213;22138693;22162396;22216861;22219193;22251315;22289988;22291079;22301400;22321265;22349384;22490330;22520950;22645246;22722750;22722925;22730298;22733537;22744846;22749068;22768205;22860916;22875620;22898819;22905207;22957049;23000965;23018098;23031157;23039890;23042785;23053986;23100393;23135354;23187294;23341344;23365461;23393137;23408834;23519389;23548901;23603912;23632886;23684163;23704090;23962568;24115220;24127215;24218337;24280869;24282625;24324066;24459426;24614070;24656771;24723457;24817692;24887488;7566098;8772199;8889548;9662389 1788 F8WE91;Q9Y6K1 AB076659;AB208833;ABBA01045143;ABBA01045144;ABBA01045145;ABBA01045146;ABBA01045147;ABBA01045148;AC012074;AF067972;AF331856;AF480163;AF503864;AI376254;AK025230;AMYH02003436;AMYH02003437;AMYH02003438;AMYH02003439;AMYH02003440;AMYH02003441;AMYH02003442;BC018214;BC023612;BC032392;BC043617;BC051864;BM470515;CB852889;CH471053;NG_029465;NM_022552;NM_153759;NM_175629;NM_175630;W76111;XM_005264175;XM_005264176;XM_005264177;XM_006711957;XM_006711958 AAD33084;AAH18214;AAH23612;AAH32392;AAH43617;AAH51864;AAL57039;AAN40037;AAY14761;ABZ92480;BAD92070;EAX00727;EAX00728;NP_072046;NP_715640;NP_783328;NP_783329;Q9Y6K1;XP_005264232;XP_005264233;XP_005264234;XP_006712020;XP_006712021 Hs.515840 1339838;1674298;1739295;1739899;2168138;2173169;2191583;5494138 A007B06;D2S144;D2S1959E;D2S2119;D2S2703;MARC_26721-26722:1034781098:3;RH130466;RH45375 DNMT3A2;M.HsaIIIA;TBRS DNA (cytosine-5)-methyltransferase 3A;DNA MTase HsaIIIA;DNA cytosine methyltransferase 3A2;DNA methyltransferase HsaIIIA;OTTHUMP00000120005;OTTHUMP00000120006;OTTHUMP00000201147;OTTHUMP00000201148;OTTHUMP00000201149;OTTHUMP00000201150 APPROVED protein-coding ENSG00000119772 HGNC:2978 04141 602769;615879 REVIEWED 1603316 DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 44745576 44749420 - 43193367 43197211 - 43225629 43229473 - 6480464;8554872 12477932;14574404;15489334;16189514;16341674;17081983;17234634;18029348;18726892;19056867;20962348;21044950;21139048;21988832;22939629;24324551;24816145;9271375 10591 H0Y8X4;O43598 ABBA01050693;AF040105;AL133375;AMYH02013642;BC011683;BM747628;BQ052226;CH471081;EU585603;NM_006443;NM_199184 AAB96766;AAH11683;ACB87500;EAX04165;EAX04166;NP_006434;NP_954653;O43598 Hs.109752 1660044 D6S1859 C6orf108;RCL;RP3-330M21.3;dJ330M21.3 OTTHUMP00000016424;OTTHUMP00000217076;OTTHUMP00000217077;c-Myc-responsive protein Rcl;deoxyribonucleoside 5'-monophosphate N-glycosidase;putative c-Myc-responsive APPROVED protein-coding ENSG00000112667 HGNC:21218 06707 REVIEWED 730970 DNM2 dynamin 2 Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010] 19 19 19 p13.2 10723575 10837431 + 10828729 10944169 + 10718053 10831910 + 1580863;6480464;6484113;6907045;7240710;8554872;8699517 10101292;10477567;10893263;11031247;11252894;11483962;11502744;11533912;11583995;11782545;12029088;12383797;12419186;12456676;12477932;12481986;12511974;12517701;12624098;12668728;12672817;12952949;14702039;14760703;14985334;15057824;15231747;15231748;15252009;15299020;15302935;15483625;15489334;15545517;15696170;15703209;15731758;15790807;15834155;15895076;16049137;16055720;16169070;16227997;16325581;16344560;16418535;16551695;16556602;16636290;16696976;17412836;17474147;17565002;17623298;17626097;17636067;17643375;17702744;17702746;17825552;17932957;18003703;18236001;18388313;18394888;18541215;18560793;18602423;18715908;18806795;18817572;18854154;18981119;19041431;19056867;19122038;19126407;19155218;19331814;19380743;19502294;19528294;19531213;19623537;19738201;19833721;19932619;20089652;20227276;20301532;20397975;20468064;20508983;20562859;20574164;20594957;20614582;20638642;20711168;20822789;21135248;21150131;21195118;21220511;21221624;21283621;21338326;21347282;21411625;21514436;21525035;21706016;21813615;21832049;21841817;21890473;21900206;21906983;21988832;21996738;22022388;22082156;22091729;22096584;22103831;22174845;22268729;22360420;22396310;22528500;22558309;22574813;22586326;22613877;22623184;22623428;22846998;22924779;22939629;22952906;22959143;23092955;23125841;23170932;23374900;23394783;23537630;23678185;23851497;23861397;23891661;24016602;24145164;24706848;24797263;24809731;24816145;24891602;24970086;25027693;7590285;9143510;9722593 1785 K7EMQ3;K7EMR9;K7ENE7;K7EPK9;P50570;Q8N1K8 AB209213;ABBA01029894;ABBA01029895;ABBA01029896;ABBA01029897;ABBA01029898;ABBA01029899;ABBA01029900;AC007229;AC011475;AC011552;AC011554;AC112707;AK023207;AK094984;AK097875;AK097967;AK097989;AK124881;AK126192;AK127033;AK289831;AK295929;AK312260;AMYH02035502;AMYH02035503;AMYH02035504;AMYH02035505;AMYH02035506;AY927542;BC039596;BC054501;BM148999;BU621654;CH471106;DB069057;L36983;NG_008792;NM_001005360;NM_001005361;NM_001005362;NM_001190716;NM_004945 AAA88025;AAD23603;AAD23604;AAH39596;AAH54501;BAC05190;BAC85978;BAC86481;BAC86797;BAD92450;BAF82520;BAG52966;BAG53560;BAG58715;EAW84144;EAW84145;EAW84146;EAW84147;EAW84148;EAW84149;EAW84150;EAW84151;NP_001005360;NP_001005361;NP_001005362;NP_001177645;NP_004936;P50570 Hs.211463 1299974;1331582;1335579;1667794;1767502;1796094;2126809;2137980;5024039 D16S325;D19S226;D19S432;D19S586;D19S854;IL1RL1LG_155;RH48242;STS-L36983;WI-10293 CMT2M;CMTDI1;CMTDIB;DI-CMTB;DYN2;DYNII;LCCS5 dynamin II;dynamin-2 APPROVED protein-coding ENSG00000079805 HGNC:2974 03852 160150;602378;606482;615368 REVIEWED 1343645 DNMT3L DNA (cytosine-5-)-methyltransferase 3-like CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 21 21 21 q22.3 30771480 30787356 - 45666222 45682099 - 44246339 44262216 - 1580863;6480464;6907045;8554872 10830953;10857753;11934864;12044346;12177302;12202768;12237941;12477932;12481029;12777184;14735494;15105426;15489334;15861382;16189514;16211598;16543361;16575165;16780588;16829525;17687327;17713477;17965599;19064572;19246518;19625766;19921333;20428781;20460473;20593030;20630873;20670142;20838592;21126912;21900206;22116073;22401780;22671959 29947 C9J0T5;H7C3F7;Q9UJW3 ABBA01074158;ABBA01074159;AF194032;AMYH02037908;AP001059;AP001060;AP001753;BC002560;BQ028660;CH471079;HC006936;NM_013369;NM_175867 AAF05812;AAH02560;ABM83103;ABM86298;BAA95556;CBH19273;EAX09445;NP_037501;NP_787063;Q9UJW3 Hs.592165 MGC1090 DNA (cytosine-5)-methyltransferase 3-like;OTTHUMP00000109516;OTTHUMP00000109517;cytosine-5-methyltransferase 3-like protein;human cytosine-5-methyltransferase 3-like protein APPROVED protein-coding ENSG00000142182 HGNC:2980 09417 606588 REVIEWED 1312854 DNTT DNA nucleotidylexotransferase This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 10 10 10 q23-q24 91805283 91839502 + 98064085 98098321 + 96304328 96338564 + 1580863;6480464;6907045;8662352;8694149;8554872 20192759;7020399 10570175;11473582;11554927;11974916;12477932;12786946;12960389;15174051;15198352;15356150;15489334;16385451;16885057;17663723;18029348;18429817;19930467;21906983;22505724;23329999;23702731;2833741;2863268;3395350;3467897;3524991;3579900;3862101;6087320;6091113;8125298;8163485;8778025;9742508;9787156 1791 P04053;Q14182 AB046378;ABBA01021830;AK130771;AK223317;AK313615;AL136181;AMYH02023586;BC012920;CH471066;K01919;M20703;M21195;M22968;M26144;NM_001017520;NM_004088 AAA53100;AAA61136;AAA61137;AAA74588;AAH12920;ABM82391;ABM85571;BAB72001;BAD97037;EAW49979;NP_001017520;NP_004079;P04053 Hs.534206 1667466;1741631;1742209;1782168;2108031;2162681 D10S2140;DNTT_8309;GDB:181598;GDB:193842;SHGC-155779;STS-M11722 TDT OTTHUMP00000020171;deoxynucleotidyltransferase, terminal;nucleosidetriphosphate:DNA deoxynucleotidylexotransferase;terminal addition enzyme;terminal deoxynucleotidyltransferase;terminal deoxyribonucleotidyltransferase;terminal transferase APPROVED protein-coding ENSG00000107447 HGNC:2983 08925 187410 REVIEWED 2301500 DOC2BL double C2-like domains, beta-like p13.3 653051 XM_925795 XP_930888 Hs.551705 protein-coding HGNC:34506 1313575 DNPEP aspartyl aminopeptidase The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. [provided by RefSeq, Jul 2008] 2 2 2 q35 214008170 214022675 - 220238180 220264730 - 219373458 219387940 - 1580863;6480464 12413488;12477932;12895663;14702039;15489334;16189514;17353931;21139048;21906983;22720794;22863883;22939629;23740937;23948443;24337577;24654937;24722188;24816145;9632644 23549 B9ZVU2;C9J1E2;C9JBE1;C9JRG3;E3W974;E3W979;E5RHR3;E5RJ35;E7EMB6;E7EPX3;E7ETB3;F8WAN0;Q9NV55;Q9ULA0 ABBA01023841;ABBA01023842;AC053503;AF005050;AK001777;AK001977;AK021871;AK023005;AK301919;AK302809;AMYH02005820;AMYH02005821;AX002997;AX002999;BC000653;BC003040;BC004854;CH471063;KF456770;NM_012100;XM_005246430;XM_005246431;XM_005246432 AAD01211;AAH00653;AAH04854;AAY15050;ABM82863;ABM86050;BAA91903;BAA92014;BAB13923;BAH13586;BAH13808;EAW70728;EAW70729;EAW70730;EAW70731;EAW70732;EAW70733;EAW70734;EAW70735;EAW70736;EAW70737;EAW70738;NP_036232;Q9ULA0;XP_005246487;XP_005246488;XP_005246489 Hs.258551 1662984;2148492;5015861;5022450;7185938 D10S16;D10S275;SHGC-114;SHGC-32022 DAP ASPEP;OTTHUMP00000064850;OTTHUMP00000064851;OTTHUMP00000064852;OTTHUMP00000064853;OTTHUMP00000227669 APPROVED protein-coding ENSG00000123992 HGNC:2981 09924 611367 REVIEWED 1604625 DNTTIP2 deoxynucleotidyltransferase, terminal, interacting protein 2 This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010] 1 1 1 p22.1 92586515 92598428 - 94335014 94345474 - 93869458 93879206 - 6480464 12477932;12786946;14702039;1504714;15047147;16344560;16762320;18029348;19453261;19454010;19471022;20887155;21139048;21668587;21693764;21906983;21963094;21987572;22586326;22779921;23000965;23752268;24654937;25027693;8125298 30836 E9PRB3;J3KP30;Q5QJE6 AA832262;AB046574;ABBA01045518;AI436814;AK123702;AK222722;AK292379;AK302909;AK308808;AL049796;AMYH02001505;AMYH02001506;AU134239;AY336729;AY394925;BC001784;BC020634;BC047688;BC063040;BC130622;BX648593;CH471097;NM_014597;U15552 AAA50601;AAH47688;AAI30623;AAQ95169;AAR02407;ADR83408;BAD08331;BAD96442;BAF85068;BAH13840;EAW73063;EAW73064;NP_055412;Q5QJE6 Hs.601998;Hs.85769 1739165;1756125;5021564;5022637 D11S2766;D1S2275;G02278;SHGC-142922 ERBP;FCF2;FLJ98849;HSU15552;LPTS-RP2;MGC163494;RP4-561L24.1;TdIF2 LPTS-interacting protein 2;OTTHUMP00000011922;acidic 82 kDa protein mRNA;acidic 82 kDa protein mRNA (HSU15552);deoxynucleotidyltransferase terminal-interacting protein 2;estrogen receptor binding protein;estrogen receptor-binding protein;tdT-interacting factor 2;terminal deoxynucleotidyltransferase-interacting factor 2 APPROVED protein-coding HGNC:24013 09994 611199 REVIEWED 1322651 DNTTIP1 deoxynucleotidyltransferase, terminal, interacting protein 1 DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008] 20 20 20 q13.12 41131070 41150565 + 44420576 44440066 + 45791937 45811427 + 1580863;6480464 11473582;11780052;12477932;12766061;15489334;17081983;17207965;17663723;19471022;19505873;19930467;21258344;21890473;21906983;23455924;23752268;23874396;24130170;24332808 116092 F2Z2A4;H0Y501;H7C1J2;H7C1M5;Q9H147 AB035676;ABBA01052667;AI538721;AK314003;AL050348;AMYH02037153;AMYH02037154;BC009535;BC024290;BG720866;CD678110;CH471077;NM_052951 AAH09535;AAH24290;ADQ32198;BAB62888;BAG36715;EAW75810;EAW75811;EAW75812;NP_443183;Q9H147 Hs.472852 2132826 D20S576E C20orf167;Tdif1;dJ447F3.4 OTTHUMP00000031159;OTTHUMP00000031160;OTTHUMP00000031161;TdT binding protein;deoxynucleotidyltransferase terminal-interacting protein 1;tdT-interacting factor 1;terminal deoxynucleotidyltransferase-interacting factor 1 APPROVED protein-coding ENSG00000101457 HGNC:16160 16831 611388 VALIDATED 731423 DOC2A double C2-like domains, alpha There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 16 16 16 p11.2 72773320 72778886 + 30016835 30023424 - 30005514 30021291 - 1580863;6480464;8554872 12477932;14702039;15489334;18354201;19242545;19736351;20489179;20677014;22036572;24722188;7826360;8554557;9115738;9195900;9736751;9804756 8448 B4DEJ2;H3BNF7;H3BSH4;H3BSN9;H3BTI1;H3BU41;I3L194;I3L3P9;Q14183 ABBA01013110;AC093512;AC243947;AK090829;AK293651;AK309158;BC041769;BC055284;BC063436;BI757951;BX460259;CH471238;D31897;DC399462;NM_001282062;NM_001282063;NM_001282068;NM_003586;NR_104089;NR_104090;XM_005255635;XM_006721097;XM_006721098;XM_006721099 AAH41769;AAH55284;AAH63436;BAA06695;BAG57103;EAW79942;EAW79943;EAW79944;EAW79945;EAW79946;EAW79947;EAW79948;EAW79949;EAW79950;EAW79951;EAW79952;NP_001268991;NP_001268992;NP_001268997;NP_003577;Q14183;XP_005255692;XP_006721160;XP_006721161;XP_006721162 Hs.355281 1685724;1689941;1783376 RH80757;RH99266;SHGC-149978 Doc2 OTTHUMP00000162986;doc2-alpha;double C2-like domain-containing protein alpha APPROVED protein-coding ENSG00000149927 HGNC:2985 05195 604567 REVIEWED 1315227 DOCK1 dedicator of cytokinesis 1 This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 10 10 10 q26.13-q26.3 122439168 122921173 + 128768965 129250780 + 126905414 127452516 + 1580863;6480464;6907045 10559471;11146654;11171081;11240126;11369773;11595183;11703939;11773052;12134158;12432077;12477932;12615911;12879077;14638695;14645848;14702039;15247908;15673687;15700267;15723800;16025104;16213822;16385451;16440329;16495483;16964243;17173036;17362836;17474147;17643375;17764157;18596235;18682798;18725541;18768751;19004829;19118547;19803396;19851296;20016009;20198315;20237902;20379614;20562859;20732417;20829512;20936779;21139048;21145461;21706016;21890473;22080864;22175896;22323579;23031429;23239367;23314417;23591873;23592719;23728337;24167658;24483146;8657152;8661160;8662907;9548247;9548255;9808620 1793 B2RUU3;Q14185 ABBA01009077;ABBA01009078;ABBA01009079;ABBA01009080;ABBA01009081;ABBA01009082;ABBA01009083;ABBA01009084;ABBA01009085;ABBA01009086;ABBA01009087;AI951513;AK091673;AL157538;AL157711;AL355316;AL359094;AL390920;AL590372;AL607029;AL772134;AMYH02024011;AMYH02024012;AMYH02024013;AMYH02024014;AMYH02024015;AUXG01000230;AW298149;BC084559;BC144632;BC146857;BP205399;BU556771;BU626553;BX470155;BX470201;BX482033;BX648342;CD104773;CF455012;CH471066;CX163251;D50857;DA350224;FP565175;FP565787;KF455291;NG_033919;NM_001290223;NM_001380;XM_006717681;XM_006717682;XM_006717683 AAI46858;BAA09454;EAW49194;NP_001277152;NP_001371;Q14185;XP_006717744;XP_006717745;XP_006717746 Hs.159195 1336371;1338103;1338522;1662190;1674916;1689450;1691310;1701094;1706972;1709930;1716041;1717439;1719691;1750395;1757705;1758501;1760405;1777503;1782072;1851197;1853757;1858509;2122993;2144730;2147909;2153064;2166473;2170272;2181207;2183608;5014740;5024756;7186802 A003N20;A008S36;D10S1438;D10S1782;D10S186;D10S1862;D14S280;D17S610;G17408;G17523;G30093;RH104174;RH120959;RH122210;RH123534;RH1577;RH66012;RH80030;RH80058;RH91379;SHGC-112575;SHGC-142396;SHGC-14365;SHGC-14609;SHGC-146320;SHGC-148479;SHGC-153976;SHGC-24326;SHGC-80984;SHGC-84824;T02857;WI-20848 DOCK180;ced5 180 kDa protein downstream of CRK;DOwnstream of CrK;OTTHUMP00000020733;dedicator of cyto-kinesis 1;dedicator of cytokinesis protein 1 APPROVED protein-coding ENSG00000150760 HGNC:2987 03240 601403 REVIEWED 1348616 DOCK11 dedicator of cytokinesis 11 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); Rho GTPase binding (inferred); Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN blood coagulation (inferred); positive regulation of GTPase activity (inferred); positive regulation of Rho GTPase activity (inferred); FOUND IN cytosol (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 8-bromo-3',5'-cyclic AMP; atrazine X X X q24 118084625 118274886 + 117629872 117820126 + 118495909 118686163 + 1580863;6480464 12432077;12477932;14702039;15840729;16968698;21139048;21890473;24255178 139818 A6NIW2;Q5JSL3 AA490413;ABBA01036766;ABBA01036767;ABBA01036768;ABBA01036769;ABBA01036770;ABBA01036771;ABBA01036772;ABBA01036773;ABBA01036774;ABBA01036775;ABBA01036776;ABBA01036777;ABBA01036778;ABBA01036779;ABBA01036780;ABBA01036781;ABBA01036782;ABBA01036783;ABBA01036784;ABBA01036785;ABBA01036786;ABBA01036787;ABBA01036788;ABBA01036789;ABBA01036790;AC007021;AI361832;AI936555;AK054649;AK056684;AK124735;AK125641;AL391237;AL391280;AMYH02040315;AMYH02040316;AMYH02040317;AMYH02040318;AMYH02040319;AW968823;AY692226;BC035593;BC042053;BC047713;BF513250;CH471161;NM_144658;XM_005262368;XM_005262369 AAH47713;AAI56531;AAU04438;BAB71253;BAC86230;BAG51406;EAW89895;NP_653259;Q5JSL3;XP_005262425;XP_005262426 Hs.368203 1691684;1697582;1702348;1703108;1780462;1780468;1787398;1975068;2129179;2138590;5019275 AF026417;AL032607;DXS7816;DXS7901;REN58420;RH102301;SHGC-172964;SHGC-60165;sWXD1059;stbA483G10SP6A;stbA573J16SP6 ACG;FLJ32122;FLJ43653;ZIZ2;bB128O4.1 Activated Cdc42-associated guanine nucleotide exchange factor, ACG;OTTHUMP00000023889;OTTHUMP00000215703;bB128O4.1.1 (novel protein);dedicator of cytokinesis protein 11;zizimin-2;zizimin2 protein-coding ENSG00000147251 HGNC:23483 06492 300681 VALIDATED 3208070 DOC2GP double C2-like domains, gamma, pseudogene INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 11 11 11 q13.2 64715457 64717597 - 67380995 67383135 - 67613524 67615664 - 6480464 15496913;20210993 390213 ABBA01024026;AMYH02024997;AP003385;CH471076;DY654453;DY654463;DY654465;NR_033791 EAW74657 Hs.523838 1774233;1775400 A002J17;RH11768 pseudo HGNC:37962 VALIDATED 1348168 DOCK10 dedicator of cytokinesis 10 This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014] 2 2 2 q36.2 219395607 219675879 - 225629807 225907330 - 224765090 225042613 - 1580863;6480464;8554872 12168954;12432077;12477932;14702039;15489334;15710388;15815621;16189514;17081983;18499258;18835169;18854154;19946888;21139048;21514340;23967269;24816145;9734811 55619 F8WB48;F8WE73;H0YFC5;H7C0I3;Q68DA4;Q96BY6 AB014594;AB074179;ABBA01023759;ABBA01023760;ABBA01023761;ABBA01023762;AC011739;AC017095;AC093806;AF250396;AK000227;AK001253;AK293847;AK293879;AK307914;AMYH02005892;AMYH02005893;AMYH02005894;AMYH02005895;BC015018;CH471063;CR749492;DB128847;DN991477;EG328193;EG328223;EG328495;EG328518;EG328531;EG328562;EU236710;NG_034039;NM_001290263;NM_014689;XM_005246672;XM_005246673;XM_005246674;XM_006712616;XM_006712617;XM_006712618;XM_006712619;XM_006712620;XM_006712621;XM_006712622;XM_006712623;XM_006712624 AAH15018;AAQ14262;AAX88891;ABY70713;ADZ15499;BAA31669;BAA91022;BAA91583;BAE45740;BAG57245;BAG57268;CAH18316;EAW70832;EAW70833;EAW70834;EAW70835;NP_001277192;NP_055504;Q96BY6;XP_005246729;XP_005246730;XP_005246731;XP_006712679;XP_006712680;XP_006712681;XP_006712682;XP_006712683;XP_006712684;XP_006712685;XP_006712686;XP_006712687 Hs.46578 1340084;1666686;1672569;1756513;2135147;2177661;2191417;7186539 D2S1766;D2S351;MARC_21678-21679:1033416202:1;RH18514;SHGC-143539;SHGC-37339;STS-AA039469 DKFZp781A1532;DRIP2;Nbla10300;ZIZ3 OTTHUMP00000203874;OTTHUMP00000203922;dedicator of cytokinesis protein 10;dopamine receptor interacting protein 2;protein zizimin 3;zizimin-3;zizimin3 protein-coding ENSG00000135905 HGNC:23479 10919 611518 REVIEWED 732162 DOC2B double C2-like domains, beta There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 96907 129072 - 6009 31421 - 146805 181630 - 1580863;6480464 10488064;12621583;18029348;20379614;20467438;21502085;22036572;24570007;7826360;8554557;8889548;8902635;9115738;9195900;9804756 8447 Q14184 ABBA01015249;ABBA01015250;AC108004;AC129894;AC240565;AF240580;AI478508;AMYH02032710;BM713588;CH471108;D70830;DN831650;KF511233;NG_021143;NM_003585;XM_006721361;XM_006721362 AAI52721;AAI53025;BAA11107;EAW90677;NP_003576;Q14184;XP_006721424;XP_006721425 Hs.551705 1659770;1681159;1761829;1769947;2137178 D17S2197;D17S2199;RH80768;SHGC-145783;STS-D70830 DOC2BL OTTHUMP00000205632;doc2-beta;double C2-like domain-containing protein beta;double C2-like domains, beta-like APPROVED protein-coding HGNC:2986 05196 604568 REVIEWED 1323174 DOCK2 dedicator of cytokinesis 2 The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells, predominantly in the peripheral blood leukocytes, and is involved in remodeling of the actin cytoskeleton required for lymphocyte migration, through the activation of RAC. Mice lacking this gene show a severe impairment in the migration and homing of lymphocytes. These mutant mice also exhibited long-term survival of allografts, suggesting that this gene may be a target for controlling transplant rejection. [provided by RefSeq, Oct 2011] 5 5 5 q35.1 165095818 165542012 + 169064251 169510386 + 169637247 170083382 + 1580863;6480464;8554872 10559471;11518968;12134158;12176041;12191913;12393632;12432077;12477932;12829596;14737186;15144186;15489334;15592455;15723800;16344560;17015707;18029348;18056264;18464913;18662984;19729484;19913121;19946888;20201926;20350533;20379614;20412587;20628086;20811636;21645150;21890473;21906983;22331897;22505724;22745667;22844345;23382691;23525077;23911989;23986795;24816145;24821968;25015289;9039502 1794 B3KXW9;E5RFJ0;E7ERW7;H0YB76;H7C082;Q5XG91;Q92608 ABBA01044102;ABBA01044103;ABBA01044104;ABBA01044105;ABBA01044106;ABBA01044107;ABBA01044108;AC008449;AC008648;AC008680;AC010303;AC026695;AK128107;AK128449;AK130744;AMYH02012710;AMYH02012711;AMYH02012712;AMYH02012713;BC016996;BC035613;BC084556;BC104900;BC113457;BC143358;BF110460;CH471062;D86964;DB145764;KC877168;NM_004946;XM_005265830 AAH16996;AAH84556;AAI04901;AAI13458;BAA13200;BAC85420;BAG54631;BAG54676;EAW61491;EAW61492;NP_004937;Q92608;XP_005265887 Hs.586174 1336136;1340878;1341655;1653060;1674498;1707580;1722877;1768611;1780570;1780604;1780768;1785550;1785686;2131835;2153184;2161179;2170201;2180022;2180908;2219784;5020431;7184039 D5S1445;D5S1713;D5S1874;D5S1961;D5S1973;D5S504;D5S596;DOCK2__4765;DXS9762;G60533;L31470;RH25421;RH45919;SGC32167;SHGC-154862;SHGC-78709;SHGC-84601;WI-18461;bac51192T;bac51362S;bac51983T FLJ46592;KIAA0209 OTTHUMP00000160994;OTTHUMP00000223166;dedicator of cyto-kinesis 2;dedicator of cytokinesis protein 2 APPROVED protein-coding ENSG00000134516 HGNC:2988 09121 603122 VALIDATED 1348269 DOCK11P1 dedicator of cytokinesis 11 pseudogene 1 14 14 14 q21.2 25190770 25198180 - 45329161 45335443 - 44859958 44866240 - 100132537;414888 ABBA01018043;AL049870;AMYH02029100;NG_028868 pseudo HGNC:31719 INFERRED 1352133 DOCK7 dedicator of cytokinesis 7 The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 1 1 1 p31.3 61209606 61442836 - 62920397 63154039 - 62454726 62688368 - 1580863;6480464;8699517;7240710;8554872 11214970;11329013;12432077;12477932;12938929;14676191;14702039;15324660;15489334;15963462;16710414;16982419;17148452;17643375;18193043;18193044;18426980;18850735;19060906;19060911;19240061;19615732;19913121;19936222;20056645;20139978;20379614;20628086;20686565;20864672;20972250;21139048;21532573;21900206;21906983;21963094;22286219;22586326;22916037;23125841;23254359;23383273;23398456;23443559;23455924;23718289;24097068;24255178;24386095;24518591;24550385;24639526;24814191;24816145 85440 H0Y7L2;Q96N67 AB051558;ABBA01074589;ABBA01074590;ABBA01074591;ABBA01074592;ABBA01074593;ABBA01074594;ABBA01074595;ABBA01074596;ABBA01074597;ABBA01074598;AC096946;AC103923;AK022097;AK055296;AK055401;AK055493;AK055905;AK091479;AK125049;AK292640;AK299737;AL138847;AL451044;AMYH02001140;AMYH02001141;AMYH02001142;AMYH02001143;BC016392;BC018075;BC018076;BC041813;BC112387;BG190976;BG205481;BG207092;BU567903;BU943181;BX094950;BX485492;CH471059;DQ118679;DQ118680;DQ309763;DQ341187;DR002667;KF495973;NG_033073;NM_001271999;NM_001272000;NM_001272001;NM_001272002;NM_033407;XM_005271292;XM_005271293;XM_006710996 AAH16392;AAI12388;AAI72250;AAZ38451;AAZ38452;ABC33725;ABC68221;BAB21862;BAB70917;BAB70933;BAB71042;BAC86032;BAF85329;BAG52372;BAG61632;EAX06582;NP_001258928;NP_001258929;NP_001258930;NP_001258931;NP_212132;Q96N67;XP_005271349;XP_005271350;XP_006711059 Hs.744927 1660321;1664026;1664028;1665073;1670676;1671386;1673362;1692304;1693208;1779171;1787938;1797280;1848800;2166073;2166475;5015961;5016596;5022578;5037552;5109281 A005T17;AL009364;AL033557;AL033806;ANGPTL3_2597;D15S1477;D1S1423;D1S1425;D1S3572;D8S2279;G20478;GDB:631802;RH46994;SHGC-155426;SHGC-32281;SHGC-74895;SHGC-74916;SHGC-74917;SHGC-74924;SHGC-74934 EIEE23;KIAA1771;ZIR2 OTTHUMP00000015338;dedicator of cytokinesis protein 7 protein-coding ENSG00000116641 HGNC:19190 16833 615730;615859 REVIEWED 1603953 DOCK8 dedicator of cytokinesis 8 This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010] 9 9 9 p24.3 129697 382253 + 214865 465259 + 214865 465259 + 6480464;7240710;8554872;8699517 10729223;11214971;12432077;12477932;14702039;15164053;15231748;15304341;15489334;16344560;16391785;18029348;18060736;19640199;19776401;19946888;20004785;20379614;20596660;21058221;21178271;21178272;21763205;21890473;21931011;21969276;22006977;22139419;22534316;22581261;22876580;22942019;22968740;23251661;23374272;23380217;23455509;23859592;23891736;23911989;23929855;24255178;24722188;8889548 81704 A2A369;A2A370;C9J613;C9J7A3;E2J6M5;E2J6M6;E9PDJ4;E9PHZ4;F8WC95;Q8NF50 AB191037;ABBA01065458;ABBA01065459;ABBA01065460;AF194407;AK024436;AK074081;AK090429;AK093572;AK293353;AK310555;AL158832;AL161725;AL583913;AL832270;AMYH02019023;AMYH02019024;AY117695;BC019102;BC030518;BC043265;BC045629;BC112894;BC130518;BC143929;BG388288;BM680510;BU532484;CA503173;CH471071;DB147029;DR004867;EU668358;HM991479;HM991480;KC736820;NG_017007;NM_001190458;NM_001193536;NM_203447 AAG42221;AAH19102;AAH45629;AAI12895;AAI30519;AAI43930;ACF94511;ADK91777;ADK91778;BAB15726;BAB84907;BAC03410;BAC04199;BAE45254;BAG56869;CAC29497;CAI46160;EAW58825;EAW58826;EAW58827;EAW58828;EAW58829;EAW58830;NP_001177387;NP_001180465;NP_982272;Q8NF50 Hs.132599 1335565;1656100;1661381;1673943;1679247;1684022;1723993;2132912;2174971;2178331;2182216;2183839;5024761;5094819 A008I30;A008P36;D9S913;D9S917;G29245;MFD455-AAT;RH118948;RH36905;RH46516;RH65569;RH80320;SHGC-18075;STS-T92908;WI-17492 FLJ00026;FLJ00152;FLJ00346;HEL-205;MRD2;ZIR8 1200017A24Rik;OTTHUMP00000096442;OTTHUMP00000107257;OTTHUMP00000214870;dedicator of cytokinesis protein 8;epididymis luminal protein 205 APPROVED protein-coding ENSG00000107099 HGNC:19191 10920 243700;611432;614113 REVIEWED 1315429 DOCK3 dedicator of cytokinesis 3 This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010] 3 3 3 p21.2 50685455 51395983 + 50712672 51421629 + 50675241 51384198 + 1358592;1580863;6480464;8554872 14569117 10854253;11696419;12093789;12432077;12477932;15647471;15840729;17474147;18029348;18716063;19058789;19352218;20032819;20307617;20368433;20379614;20881960;21139048;22115042;22745667;22746061;24250222;9205841 1795 Q8IZD9 AB002297;ABBA01024531;ABBA01024532;ABBA01024533;ABBA01024534;ABBA01024535;ABBA01024536;ABBA01024537;AC092037;AC096886;AC096920;AC099047;AC107313;AC126120;AC131013;AC139619;AC140120;AC144634;AK310984;AMYH02006774;AMYH02006775;AMYH02006776;AMYH02006777;AMYH02006778;AMYH02006779;AMYH02006780;AMYH02006781;AMYH02006782;AMYH02006783;AY145303;AY254099;BC037933;BC045793;BC131746;CH471055;KF457632;NG_028012;NM_004947;XM_005264914;XM_005264915;XM_005264916;XM_005264917;XM_005264918;XM_006713008;XM_006713009;XM_006713010 AAI31747;AAI56340;AAI57128;AAN12301;AAP80572;BAA20759;EAW65134;EAW65135;EAW65136;EAW65137;NP_004938;Q8IZD9;XP_005264971;XP_005264972;XP_005264973;XP_005264974;XP_005264975;XP_006713071;XP_006713072;XP_006713073 Hs.476284 1339798;1341473;1341699;1646293;1724265;1735278;1738921;1739313;1753491;1778846;1787674;2153166;2174434;2218506;5494132;7185607 D10S589;D3S1235;D3S1573;D3S2928E;D3S3060;D3S3151;D3S3188;D3S3306E;DOCK3__4766;RH121275;RH12752;RH18533;SHGC-107368;SHGC-156153;fk95g07.x1 KIAA0299;MOCA;PBP OTTHUMP00000216674;dedicator of cyto-kinesis 3;dedicator of cytokinesis protein 3;modifier of cell adhesion;presenilin-binding protein APPROVED protein-coding ENSG00000088538 HGNC:2989 10341 603123 REVIEWED 6480817 DOCK9-AS1 DOCK9 antisense RNA 1 13 q32.3 98832084 98834629 + 100874096 ABBA01027133;AI027206;AL161420;AMYH02028582;HG505839;NR_046663 RP11-155N3.3 APPROVED ncrna ENSG00000229918 HGNC:40672 VALIDATED 1315737 DOCK5 dedicator of cytokinesis 5 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); INVOLVED IN positive regulation of GTPase activity (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; amiodarone 8 8 8 p21.2 24006779 24231488 + 25042287 25273227 + 25184772 25415711 + 6480464;8554872 10737800;12432077;12477932;14702039;15489334;16421571;18029348;19004829;22595969;23275563 80005 B9A015;H0Y7N4;H0YB14;Q68DL4;Q9H7D0 ABBA01005561;ABBA01005562;ABBA01005563;ABBA01005564;AC041005;AC091185;AK022242;AK024687;AK026663;AK123607;AK126249;AL832744;AMYH02017642;AMYH02017643;AMYH02017644;AMYH02017645;AMYH02017646;BC011877;BC015352;BC041761;BC057384;BC137175;BC137176;BF884637;BM450222;BX648352;CH471080;CR627414;CR749353;CR933718;KF458713;KF458716;KF510313;NM_024940;XM_005273650;XM_005273651;XM_006716402 AAH11877;AAH41761;AAI37176;AAI37177;BAB14962;BAC85660;BAC86503;CAH10503;CAH18206;CAI46248;EAW63593;EAW63594;EAW63595;NP_079216;Q9H7D0;XP_005273707;XP_005273708;XP_006716465 Hs.195403 1340828;1649301;1652859;1761873;1770121;2116253;2148458;2154853;5015861;5022200;5022651;5037552;7185938 D10S16;D11S2921;D8S1489;D8S1725;D8S2106;D8S2279;G17209;L18426;RH66434;SHGC-145819;SHGC-2824;SHGC-34359 DKFZp451J181;DKFZp779M164;DKFZp781J211 OTTHUMP00000162832;dedicator of cytokinesis protein 5 protein-coding ENSG00000147459 HGNC:23476 09925 VALIDATED 6480301 DOCK9-AS2 DOCK9 antisense RNA 2 (head to head) INTERACTS WITH melphalan 13 q32.3 99086723 99088625 + 6480464 11991713 100861541 ABBA01027129;AF339771;AL391122;AMYH02028586;NR_047482 Hs.344872 1721927;1773735 G59996;RH45078 APPROVED ncrna HGNC:43696 VALIDATED 1315180 DOCK6 dedicator of cytokinesis 6 This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011] 19 19 19 p13.2 11204784 11268011 - 11309969 11373168 - 11199293 11262492 - 1580863;6480464;8699517;8554872;7240710 10718198;12432077;12477932;14702039;15489334;16344560;17196961;20508642;20686565;20889312;21139048;21347282;21820096;21906983;23314748;23505323;23726366;24097068;24255178 57572 B7Z9U8;K7EKT0;K7EP20;K7EP51;K7ERK2;K7ESB7;Q96HP0 AB037816;ABBA01029868;AC009000;AC011472;AK022412;AK295664;AK316063;AMYH02035524;AMYH02035525;BC008335;BC015424;BC051330;BC095483;BC146786;BI820302;BI822534;CH471106;CV571923;CX759906;DB303474;DC333132;NG_031953;NM_020812;XM_005260000;XM_005260001;XM_006722802;XM_006722803;XM_006722804 AAH08335;AAH51330;AAI46787;BAA92633;BAG58526;BAH14434;EAW84179;EAW84180;EAW84181;EAW84182;EAW84183;EAW84184;NP_065863;Q96HP0;XP_005260057;XP_005260058;XP_006722865;XP_006722866;XP_006722867 Hs.591002 2186058;5015404;5015961;5037552 D15S1477;D8S2279;G09297;L17705 AOS2;ZIR1 dedicator of cytokinesis protein 6 APPROVED protein-coding ENSG00000130158 HGNC:19189 13243 614194;614219 REVIEWED 1350295 DOCK4 dedicator of cytokinesis 4 This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008] 7 7 7 q31.1 106178467 106658751 - 111366164 111846462 - 111726108 112206407 - 1580863;6480464;6484113;8554872 12432077;12477932;12628187;12853948;14702039;15324660;16213364;16344560;16464467;17027967;17353931;18271526;18459162;18641688;19383911;19401682;19528233;19807924;20346443;20379614;21139048;21532034;21682944;21706016;21890473;21988832;22315970;22747683;22788528;22890011;22952844;23084401;23402259;23720743;24324551;9872452 9732 C9J637;C9J7D9;C9JDB3;F5GXW1;F8WES4;H0Y599;H0Y7H7;Q8N1I0 AB018259;ABBA01057850;ABBA01057851;ABBA01057852;AC003077;AC003080;AC004001;AC004111;AC005047;AF085922;AK055497;AK091557;AK098050;AK294722;AK294820;AK309605;AMYH02016574;AMYH02016575;AMYH02016576;AMYH02016577;AMYH02016578;AMYH02016579;AMYH02016580;AMYH02016581;AMYH02016582;AY233380;BC117688;BC117689;BC117694;BM126591;BM545903;CH236947;CH471070;DA646980;KF458551;KF458553;KF458554;KF458555;KF510967;NG_028060;NM_014705;XM_006716188;XM_006716189 AAB83946;AAI17689;AAI17690;AAI17695;AAO73565;AAS07431;BAA34436;BAC03696;BAC05221;BAH11861;BAH11895;EAL24377;EAW83451;EAW83452;EAW83453;EAW83454;EAW83455;EAW83456;NP_055520;Q8N1I0;XP_006716251;XP_006716252 Hs.654652 1342284;1653583;1668050;1681368;1683365;1691698;1691702;1696828;1696830;1707126;1713923;1714579;1725349;1771170;1787766;1848296;2130286;2141666;2145499;2151667;2162140;2173862;2184403;5015619;5093006;7184028;7187442 A009E05;D11S3114;D7S1424;D7S523;G32465;G42167;G42169;G49158;G49159;GDB:1234268;GDB:1317590;GDB:1317986;GDB:3754623;GDB:4585517;L29706;RH118992;RH119391;RH119803;RH48305;RH66687;RH68519;RH93151;RH94189;SHGC-173129;SHGC-81329 FLJ34238;KIAA0716;MGC134911;MGC134912 OTTHUMP00000207227;OTTHUMP00000207499;OTTHUMP00000207500;OTTHUMP00000207611;dedicator of cytokinesis protein 4 APPROVED protein-coding ENSG00000128512 HGNC:19192 07407 607679 REVIEWED 7248318 DOCK4-AS1 DOCK4 antisense RNA 1 7 7 7 106260880 106274133 + 111448561 111461835 + 111808505 111821779 + 12477932;24324551 100506413 ABBA01057851;AC003077;AMYH02016576;BC043243;DB513163;HY004923;NG_028060;NR_103806 Hs.677513 ncrna ENSG00000225572 HGNC:40876 VALIDATED 1348065 DOCK9 dedicator of cytokinesis 9 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); Rho GTPase binding (inferred); Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN blood coagulation (inferred); positive regulation of GTPase activity (inferred); positive regulation of Rho GTPase activity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 13 13 13 q32.3 80289402 80582232 - 99445741 99738660 - 98793487 99086406 - 1580863;6480464;8554872 10470851;11991713;12168954;12172552;12432077;12477932;14702039;15057823;15489334;16344560;17728666;17935486;18056264;18729074;19745154;19809089;19946888;20379614;21139048;21145461;22889411;24250222;8889548 23348 A6H8Z6;B3KXE2;B9EG73;H0Y3S1;H0Y572;H7BZ79;Q5JUD3;Q5JUD8;Q6ZSL5;Q9BZ29;X6RGR3 AB028981;ABBA01027132;ABBA01027133;AF085864;AF339774;AF527605;AK022011;AK090793;AK122987;AK126492;AK127215;AK127329;AK127508;AK294573;AK294705;AK294770;AK300298;AK300331;AL139084;AL161420;AL391122;AMYH02028581;AMYH02028582;AMYH02028583;AMYH02028584;AMYH02028585;AW450751;AX553969;BC043506;BC053620;BC136274;BC146814;BC171753;BM968821;BX648707;CH471085;CR749658;CR936820;DB277756;NM_001130048;NM_001130049;NM_001130050;NM_015296;XM_005254034;XM_005254035;XM_005254036;XM_006719922;XM_006719923;XM_006719924;XM_006719925;XM_006719926;XM_006719927;XM_006719928;XM_006719929;XM_006719930;XM_006719931;XM_006719932;XM_006719933;XM_006719934;XM_006719935;XM_006719936;XM_006719937;XM_006719938;XM_006719939;XM_006719940;XM_006719941;XM_006719942 AAH43506;AAH53620;AAI36275;AAI46815;AAI71753;AAM90306;BAA83010;BAC86933;BAG54337;BAG54454;BAH11816;BAH11852;BAH11878;BAH13255;BAH13261;CAD58209;CAH18452;EAX08994;EAX08995;EAX08996;EAX08997;EAX08998;EAX08999;EAX09000;EAX09001;EAX09002;EAX09003;EAX09004;EAX09005;NP_001123520;NP_001123521;NP_001123522;NP_056111;Q9BZ29;XP_005254091;XP_005254092;XP_005254093;XP_006719985;XP_006719986;XP_006719987;XP_006719988;XP_006719989;XP_006719990;XP_006719991;XP_006719992;XP_006719993;XP_006719994;XP_006719995;XP_006719996;XP_006719997;XP_006719998;XP_006719999;XP_006720000;XP_006720001;XP_006720002;XP_006720003;XP_006720004;XP_006720005 Hs.596105 1342334;1662257;1694470;1737409;1737479;1770646;1782930;2111522;2113354;2113414;2114961;2122012;2131929;2137331;2163933;2172230 1672;A007C10;D13S1027;D13S1498;D13S1738;D13S1771;D13S770;D13S918;D13S984;G42960;RH45146;RH48550;RH66271;SHGC-155329;SHGC-9437;STS-W88496 DKFZp686C11110;DKFZp686D2047;DKFZp686N04132;FLJ11949;FLJ16744;FLJ44528;FLJ45282;FLJ45601;KIAA1058;KIAA1085;RP11-155N3.2;ZIZ1;ZIZIMIN1 OTTHUMP00000018601;cdc42 guanine nucleotide exchange factor zizimin-1;dedicator of cytokinesis protein 9 protein-coding ENSG00000088387 HGNC:14132 09542 607325 VALIDATED 1606491 DOHH deoxyhypusine hydroxylase/monooxygenase This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] 19 19 19 p13.3 3427630 3437748 - 3490819 3500938 - 3490821 3500940 - 6480464 12477932;15057824;15489334;16371467;16452303;16533814;17213197;17476569;19706422;21139048;22190034;22908221;22927971;23824909;24250222;24816145;24843120 83475 K7EIV2;K7ERU8;Q9BU89 ABBA01002825;ABBA01002826;AC005551;AC005787;AC093052;AMYH02035256;AW195139;BC002817;BC009863;BG491509;BU624567;CH471139;NM_001145165;NM_031304 AAC33193;AAH02817;AAH09863;EAW69316;EAW69317;NP_001138637;NP_112594;Q9BU89 Hs.515064;Hs.609012 HLRC1;MGC4293;hDOHH HEAT-like (PBS lyase) repeat containing 1;HEAT-like repeat-containing protein 1;deoxyhypusine dioxygenase;deoxyhypusine hydroxylase;deoxyhypusine monooxygenase APPROVED protein-coding ENSG00000129932 HGNC:28662 14627 611262 REVIEWED 1319871 DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1) The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 2 2 2 p13 74612968 74615771 + 74776147 74784678 + 74549020 74557551 + 1580863;6480464;6484113;6907045;8554872 10202139;10567556;10585470;10669731;10688886;10799545;10822173;10823839;10852966;10940083;11042170;11071635;11278335;11489946;11551902;11553620;11825908;11927552;12087092;12477932;12522270;12595900;12606711;12660731;14647425;14702039;15144186;15345598;15489334;15541476;15546884;15570572;15574499;15592455;15815621;16094384;16153436;16177091;16273093;16338067;16344560;16537894;16823827;17092301;18156175;18353552;19299694;19481264;19481542;19682241;19823681;20139980;20467438;21078907;21536658;21690289;21796618;21856257;22190034;22252131;22514638;22974441;23028047;23822091;24816145;8125298;8152267;8619474;9008160;9008161;9110174;9221755;9478921;9620604;9737977;9790776;9822717 1796 B3KP83;B4DJN1;H7C093;Q2TA81;Q99704 ABBA01075602;AC005033;AF035299;AF180527;AK055944;AK127127;AK127656;AK222883;AK296154;AK300097;AK314678;AMYH02004091;BC111055;BC114440;BC114497;BQ575925;CH471053;DA382785;DA599419;NG_033047;NM_001197260;NM_001381;U70987;XM_005264180;XM_006711959 AAB88182;AAC51127;AAF19167;AAI11056;AAI14441;AAI14498;AAX93224;BAD96603;BAG51595;BAG54440;BAG54544;BAG58893;BAG61898;EAW99612;EAW99613;EAW99614;NP_001184189;NP_001372;Q99704;XP_005264237;XP_006712022 Hs.103854 2135774;2180738;5014055 D1S3697;RH48230;RH70700 MGC117395;MGC138860;P62DOK;p62(dok);pp62 Downstream of tyrosine kinase 1;OTTHUMP00000160414;OTTHUMP00000202719;OTTHUMP00000202720;docking protein 1;docking protein 1 (downstream of tyrosine kinase 1) APPROVED protein-coding ENSG00000115325 HGNC:2990 04228 602919 REVIEWED 1604958 DOK7 docking protein 7 The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 4 4 4 p16.3 3375833 3406924 + 3465033 3503203 + 3463306 3494482 + 6480464;7240710;8549508;8554872;8699517 23032192 12477932;14702039;15489334;16344560;16794080;16917026;17439981;17452375;18161030;18165682;18180250;18540360;18567858;18626973;18707767;19108574;19244212;19261599;19837590;20012313;20147321;20301347;20371544;20458068;20554332;20603078;20610155;21305573;21504746;21747134;21952943;21975507;22353287;22661499;22884442;23054610;23278577;23790237;23831158;24097068;8889548 285489 Q18PE1;Q8N1M3 AB220918;ABBA01029467;ABBA01029468;AK075037;AK091037;AK096456;AL590235;AMYH02008632;AMYH02008633;BC043568;BC062369;BC131544;BC141852;BM684814;CH471131;DA205628;DA823926;KF457734;NG_013072;NM_001164673;NM_001256896;NM_001301071;NM_173660;XM_006713875;XM_006713876 AAH43568;AAH62369;AAI31545;AAI41853;BAC03572;BAC04795;BAC11367;BAE96739;EAW82463;NP_001158145;NP_001243825;NP_001288000;NP_775931;Q18PE1;XP_006713938;XP_006713939 Hs.122110;Hs.701584 1730031;7184649 D4S125 C4orf25;CMS1B;Dok-7;FLJ33718;FLJ39137;FLJ90556 OTTHUMP00000194785;OTTHUMP00000216837;downstream of tyrosine kinase 7 APPROVED protein-coding ENSG00000175920 HGNC:26594 08744 208150;254300;610285 REVIEWED 1320786 DOK4 docking protein 4 ENCODES a protein that exhibits insulin receptor binding (inferred); receptor signaling protein activity (inferred); INVOLVED IN MAPK cascade (inferred); nervous system development (inferred); transmembrane receptor protein tyrosine kinase signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 16 16 16 q21 42006722 42021228 - 57505870 57520385 - 57471958 57486473 - 6480464;8554872 10493829;11470823;12477932;12595900;12730241;14702039;15489334;16273093;16820412;17443497;19073520;19322201;19494292;22982678;23824909 55715 H3BN90;H3BPY9;H3BQ19;H3BS85;H3BSK0;H3BST9;H3BTI4;H3BTI7;H3BTK2;H3BUG3;H3BV67;H3BVB4;Q8TEW6 ABBA01025272;AC004382;AC009052;AF466369;AK001350;AK307270;AK315426;AMYH02032109;AW163719;BC001540;BC003541;CH471092;NM_018110;XM_005256042;XM_005256043 AAC24310;AAH01540;AAH03541;AAL74195;ABM83934;ABM87253;BAA91642;BAG37814;EAW82932;EAW82933;EAW82934;NP_060580;Q8TEW6;XP_005256099;XP_005256100 Hs.279832 1736592;1769048;1853842;2152580;2153911;2189445 D16S2566E;D16S2591E;D16S3334;MARC_6240-6241:992007189:1;RH78396;STS-J05448 FLJ10488;IRS-5;IRS5 OTTHUMP00000164664;downstream of tyrosine kinase 4;insulin receptor substrate 5 protein-coding ENSG00000125170 HGNC:19868 16316 608333 VALIDATED 1322166 DOK2 docking protein 2, 56kDa The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008] 8 8 8 p21.3 20728645 20733466 - 21766384 21771290 - 21908873 21913776 - 1580863;6480464;6484113 10428862;10508618;10799545;10822173;10856136;11254695;11470823;11689432;12477932;12522270;12665569;12777393;14645010;14647425;15144186;15489334;15592455;15831486;16094384;16177091;16189514;16823827;17043143;17092301;17353931;19299694;19786546;19913121;20139978;20139980;20628086;21044950;21078907;21116278;21329978;21749457;21890473;22130622;24255704;24816145;9478921;9764820 9046 E5RIG9;E5RJ11;G3V114;O60496 ABBA01005496;AC087363;AF034970;AK226110;AK292126;AK296671;AL545478;AMYH02017587;BC032623;BQ067133;CB270269;CH471080;NM_003974;XM_005273680;XM_005273681;XM_006716411 AAC13265;AAH32623;ABM87807;ABM92167;BAF84815;BAG59268;EAW63738;EAW63739;NP_003965;O60496;XP_005273737;XP_005273738;XP_006716474 Hs.71215 2108033;2182902 DOK2_8887;RH66760 p56DOK;p56dok-2 OTTHUMP00000161710;OTTHUMP00000224923;docking protein 2;docking protein 2, 56kD;downstream of tyrosine kinase 2;p56(dok-2) APPROVED protein-coding ENSG00000147443 HGNC:2991 05411 604997 REVIEWED 1321943 DOLK dolichol kinase The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010] 9 9 9 q34.11 102359670 102361873 - 131707809 131710012 - 128945530 128947733 - 1580863;6480464;6907045;8554872;8699517 10470851;12213788;12477932;12975309;15164053;15489334;16923818;17273964;20301507;21139048;22242004 22845 B4DTE7;Q9UPQ8 AB029017;ABBA01043908;AK300180;AL672142;AMYH02021728;AY358759;BC035556;BF056649;CH471090;NG_017009;NG_033111;NM_014908 AAH35556;AAQ89119;ADZ15912;BAA83046;BAG61959;EAW87849;NP_055723;Q9UPQ8 Hs.531563 1813634;1814092;1818534;1820248;1844546;1931824;1931826;1931828;1931830;1931832;1931834;1931836;1931838;1931840;1931842;1931844;1931846;1931848;1931850;2108579;2208078;2208080;2208082 ECD07840;ECD08075;ECD10329;ECD11198;ECD23487;REN36741;REN36742;REN36743;REN36744;REN36745;REN36746;REN36747;REN36748;REN36749;REN36750;REN36751;REN36752;REN36753;REN36754;TMEM15_9275;stSG628087;stSG628088;stSG628089 CDG1M;DK;DK1;KIAA1094;SEC59;TMEM15 OTTHUMP00000022307;SEC59 homolog;dolichol kinase 1;transmembrane protein 15 APPROVED protein-coding ENSG00000175283 HGNC:23406 15525 610746 REVIEWED 1323508 DOK3 docking protein 3 ENCODES a protein that exhibits insulin receptor binding (inferred); INVOLVED IN Ras protein signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); plasma membrane (inferred); INTERACTS WITH crotonaldehyde; valproic acid; 17alpha-ethynylestradiol (ortholog) 5 5 5 q35.3 171564313 171572830 + 176928905 176937490 - 177501904 177510426 - 6480464;8554872 10567556;10733577;11470823;12477932;12595900;14702039;14993273;15489334;16344560;16436051;17290227;19380743;19608861;19682241;20139980;20697350;21822214;22761938;23128233;23223229 79930 D6R951;D6R977;D6RAM3;D6RAV2;D6RAZ9;D6RC22;D6RF29;Q7L591 ABBA01033452;ABBA01033453;AC145098;AK026223;AK097258;AL833678;AMYH02012839;BC004564;BC004867;CH471195;DA674730;DA931137;NM_001144875;NM_001144876;NM_024872;XM_005265984;XM_005265985;XM_005265987;XM_006714920 AAH04564;AAH04867;BAB15399;BAC04986;EAW84982;EAW84983;EAW84984;NP_001138347;NP_001138348;NP_079148;Q7L591;XP_005266041;XP_005266042;XP_005266044;XP_006714983 Hs.720849 1645087;1853021;2119595 A002K19;G16059;RH47489 DOKL;FLJ22570;FLJ39939 Dok-like protein;OTTHUMP00000161439;OTTHUMP00000223809;OTTHUMP00000223810;OTTHUMP00000223811;OTTHUMP00000223816;downstream of tyrosine kinase 3 protein-coding ENSG00000146094 HGNC:24583 16834 611435 VALIDATED 1603397 DONSON downstream neighbor of SON This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008] 21 21 21 q22.1 20149845 20160634 - 34937165 34961019 - 33577551 33588708 - 6480464;8554872 10773462;10950926;12036298;12477932;14702039;14759258;15489334;17567994;17571346;21906983;22079093;24250222;8889548 29980 C9J4K5;C9JSP0;F8W8A5;F8WC22;F8WD19;H7C006;H7C1C1;H7C1M7;H7C304;Q9NYP3;V9GY84 ABBA01057351;AF232673;AF232674;AF232675;AK001274;AK074964;AMYH02037740;AMYH02037741;AP000304;BC048266;BI463648;BM451848;BM679236;CH471079;NM_017613 AAF72947;AAF72948;AAF72949;AAH48266;BAC11320;EAX09812;NP_060083;Q9NYP3 Hs.436341 1340572;1660087;1674305;1689239;1695632;1716519;1803054;1804130;1812024;1812570;1820404;1820906;1822710;1824792;1824946;1825594;1828868;1830434;1830566;2029612;2029632;2029634;2029636;2029638;2029640;2029642;2029644;2029646;2029648;2029650;2029652;2029654;2029656;2029658;2029660;2029662;2029664;2029666;2029668;2029670;2029672;2029674;2029676;2029678;2029680;2029682;2029684;2029686;2029688;2029690;2029692;2029694;2029696;2029698;2029700;2029702;2029704;2029706;2029708;2029710;2029712;2029714;2029716;2029718;2029720;2029722;2101426;2101428;2101430;2101432;2101434;2130687;5023733 AU048745;D21S1910;D21S2037;ECD02418;ECD02983;ECD07017;ECD07295;ECD11277;ECD11529;ECD12443;ECD13494;ECD13572;ECD13905;ECD15561;ECD16351;ECD16419;G48507;REN85812;REN85822;REN85823;REN85824;REN85825;REN85826;REN85827;REN85828;REN85829;REN85830;REN85831;REN85832;REN85833;REN85834;REN85835;REN85836;REN85837;REN85838;REN85839;REN85840;REN85841;REN85842;REN85843;REN85844;REN85845;REN85846;REN85847;REN85848;REN85849;REN85850;REN85851;REN85852;REN85853;REN85854;REN85855;REN85856;REN85857;REN85858;REN85859;REN85860;REN85861;REN85862;REN85863;REN85864;REN85865;REN85866;REN85867;RH121545;RH80128;SHGC-87590;STS-Z41061;stSG607283;stSG607284;stSG607286;stSG607289;stSG607291 B17;C21orf60;C2TA;DKFZp434M035 MHC class II transactivator type I;OTTHUMP00000068642;OTTHUMP00000068643;OTTHUMP00000108288;OTTHUMP00000206684;OTTHUMP00000206685;protein downstream neighbor of Son APPROVED protein-coding ENSG00000159147 HGNC:2993 09926 611428 VALIDATED 1343098 DOK5 docking protein 5 The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014] 20 20 20 q13.2 49796955 49972466 + 53092266 53267710 + 54475727 54651171 + 1580863;6480464;8554872 11470823;11780052;12454490;12477932;12595900;12730241;15286081;15489334;16189514;16273093;16647839;19034581;20187968;20215924;20534969;20734064;21364910;21472221;22152676;23192668;23733669;23936387;23954828;24551065 55816 Q9P104 ABBA01052873;ABBA01052874;AF132732;AF466368;AI822030;AK313222;AL035667;AL050069;AL118501;AL162292;AMYH02037310;AMYH02037311;AMYH02037312;AMYH02037313;AMYH02037314;BC008992;BG212868;BI758267;BI916998;CH471077;CN427887;DA161365;KF456953;NM_001294161;NM_018431;NM_177959;XM_005260451 AAF66443;AAH08992;AAL74194;CAB43255;EAW75570;EAW75571;NP_001281090;NP_060901;NP_808874;Q9P104;XP_005260508 Hs.473133;Hs.656582 1652175;1703704;1704368;1772204;1857262;2116909;2161286;2180829 1438;AL031196;AL031210;RH64156;SHGC-78183;SHGC-78865;WI-15702;Z94705 C20orf180;IRS-6;IRS6;MGC16926 OTTHUMP00000031322;downstream of tyrosine kinase 5;insulin receptor substrate 6 APPROVED protein-coding ENSG00000101134 HGNC:16173 16317 608334 REVIEWED 1346452 DOK6 docking protein 6 DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008] 18 18 18 q22.2 63915922 64363842 + 67068284 67516323 + 69401048 69849087 + 6480464;8554872 12477932;14702039;15286081;15489334;16273093;18187620;20210798;20379614;20548944;24483146 220164 J3KTH4;Q6PKX4 ABBA01056283;ABBA01056284;ABBA01056285;ABBA01056286;ABBA01056287;AC026585;AC068254;AC090231;AC119868;AK057795;AL512695;AMYH02034926;AMYH02034927;AMYH02034928;AMYH02034929;AMYH02034930;AY599248;BC008583;BC019045;BC096744;BX280184;CH471117;DB480182;NM_152721 AAH08583;AAH19045;AAH96744;AAT09770;BAB71577;EAW66514;NP_689934;Q6PKX4 Hs.278285 1334652;1337627;1339688;1650012;1650014;1653055;1694788;1709562;1713589;1715007;1717497;1723769;1734598;1754585;1756607;1760807;1783712;2115902;2121121;2137228 D18S1092;D18S61;D18S817;D18S946E;G43612;L29699;RH118621;RH120291;RH120840;RH122254;RH78400;SGC35852;SHGC-132873;SHGC-143643;SHGC-144351;SHGC-154843;SHGC-35944;SHGC-36873;SHGC-53895;SHGC-81871 DOK5L;HsT3226;MGC20785 docking protein 5-like;downstream of tyrosine kinase 6 APPROVED protein-coding ENSG00000206052 HGNC:28301 13244 611402 VALIDATED 1601768 DPCD deleted in primary ciliary dyskinesia homolog (mouse) INVOLVED IN determination of left/right symmetry (inferred); epithelial cilium movement (inferred); lateral ventricle development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 10 10 10 q24.32 97086875 97108196 + 103330399 103369410 + 101587452 101609662 + 6480464;8554872 12477932;14630615;16189514;16385451;17207965;17353931;17643375;21139048;21832049;23824909;24255178;25036637 25911 B4DJT1;Q5JQQ2;Q5JQQ4;Q9BVM2 ABBA01063192;ABBA01063193;AK290154;AK296220;AL110240;AL627424;AMYH02023678;AY532267;BC001082;BC031695;CH471066;NM_015448;XM_006717745 AAH01082;AAH31695;AAS46252;ACE86949;ACE87638;ADQ32437;BAF82843;BAG58943;CAB53691;EAW49754;EAW49755;NP_056263;Q9BVM2;XP_006717808 Hs.658128;Hs.735511 2185932;2191581 MARC_26712-26713:1034100689:1;WI-15144 DKFZp566F084;RP11-529I10.4 OTTHUMP00000020329;OTTHUMP00000020331;deleted in a mouse model of primary ciliary dyskinesia APPROVED protein-coding ENSG00000166171 HGNC:24542 13247 PROVISIONAL 1314515 DOPEY2 dopey family member 2 INVOLVED IN cognition; endoplasmic reticulum organization (ortholog); Golgi to endosome transport (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; Golgi membrane (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; arsenite(3-) 21 21 21 q22.2 22735540 22864978 + 37529080 37666572 + 36156787 36294274 + 6480464;8554872 10231032;10830953;10931277;10950924;12168954;12477932;12767918;16276086;16301316;16303751;19056867;19460634;20379614;21139048;21890473;23956138;9503011 9980 F8W8U9;Q9Y3R5 AB023150;ABBA01057384;ABBA01057385;ABBA01057386;ABBA01057387;ABBA01057388;ABBA01057389;ABBA01057390;ABBA01057391;AJ001857;AJ237839;AK025095;AK026478;AMYH02037775;AMYH02037776;AMYH02037777;AP000689;AP000690;AP000691;AP000692;AP001725;BC012791;CH471079;KF457260;NM_005128;W15495;XM_006724068 AAH12791;AAI56375;BAA76777;BAA89431;BAA95548;CAB41415;EAX09743;EAX09744;NP_005119;Q9Y3R5;XP_006724131 Hs.204575 1647280;1730672;1784452;2116680;2120460;2122103;2152779;2152781;5015404;5016478;5020414;5022200;5022576;5022578 D1S1361;D1S1423;D21S333;G34590;GDB:434012;L17688;L17705;L18426;RH47816;SHGC-154980;SHGC-51925;SHGC-9549;SHGC-9555;SHGC-9922 21orf5;C21orf5 OTTHUMP00000109015;homolog of yeast DOP1;pad-1-like;protein dopey-2 protein-coding ENSG00000142197 HGNC:1291 07271 604803 VALIDATED 1346376 DPCR1 diffuse panbronchiolitis critical region 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; atrazine; benzo[a]pyrene 6 6 6 p21.33 32506887 32520107 + 30908777 30921998 + 30941000 30954221 + 6480464;8554872 10677310;12185533;12477932;16702430;17207965;19851445;20041166;21832049;22152429;23284291;23453885 135656 E9PEI6;Q3MIW9 AB064272;AB110931;AB110932;AB202102;ABBA01038067;AL662854;AL669830;AL773541;AL833738;AMYH02013439;BC069477;BC101661;BC101663;CH471081;CR759747;CR936875;NM_080870 AAH69477;AAI01662;AAI01664;ACE86607;ACE87288;ADQ32893;BAB82383;BAD13697;BAD13698;BAE78623;CAH56248;EAX03351;NP_543146;Q3MIW9 Hs.631993 5493009;5493997 UniSTS:480685;UniSTS:483732 MGC126710;MGC126712;PBLT;bCX105N19.6 OTTHUMP00000029138;diffuse panbronchiolitis critical region 1 protein;diffuse panbronchiolitis critical region protein 1 protein-coding ENSG00000168631 HGNC:21666 16073 613928 VALIDATED 1350537 DPEP1 dipeptidase 1 (renal) The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012] 16 16 16 q24.3 74743127 74769330 + 89679716 89707216 + 89613308 89640808 + 1580863;6480464;8699517 10425712;11487543;12144777;12477932;15145522;15340161;15489334;16189514;19879002;20031578;20824289;21076463;2137335;2168407;22363658;2303490;23824729;23839495;2768222;6122685;6334084;7682195;7764673;8097406;8439558;8507661;8737157 1800 H3BP43;H3BQS5;P16444 ABBA01014140;ABBA01014141;ABBA01014142;AC010538;AK309577;AMYH02032675;AMYH02032676;AMYH02032677;AMYH02032678;BC017023;BM152944;BT006664;CH471184;CR457404;D13137;D13138;J05257;NM_001128141;NM_004413;S70330;XM_005256285;XM_005256286;XM_006721159;XM_006721160 AAB59410;AAC60630;AAH17023;AAP35310;ABM81640;ACE86793;ACE87480;BAA02430;BAA02431;CAG33685;EAW66719;EAW66720;NP_001121613;NP_004404;P16444;XP_005256342;XP_005256343;XP_006721222;XP_006721223 Hs.109 1688014 RH80289 MBD1;MDP;RDP;hRDP OTTHUMP00000175356;dehydropeptidase-I;dipeptidase 1;microsomal dipeptidase;renal dipeptidase APPROVED protein-coding ENSG00000015413 HGNC:3002 01563 179780 REVIEWED 1313616 DOPEY1 dopey family member 1 INVOLVED IN endoplasmic reticulum organization (ortholog); Golgi to endosome transport (ortholog); ASSOCIATED WITH IMMUNODEFICIENCY 23 (inferred); Melanoma (inferred); FOUND IN Golgi membrane (ortholog); INTERACTS WITH (+)-catechin; benzene; cyclosporin A 6 6 6 q15 84210683 84311433 + 83777385 83881069 + 83067666 83171350 + 6480464;8554872 10470851;10931277;12477932;14702039;16301316;16303751;21139048 23033 B2RWN9;B3KT12;F6U2K4;Q5JWR5;Q5TA12;S4R3Y1 AB029040;ABBA01040449;AK027030;AK092929;AK094766;AL050080;AL121716;AL139333;AMYH02014010;AMYH02014011;AMYH02014012;BC036257;BC048342;BC144544;BC144545;BC150619;BX648667;CH471051;NM_001199942;NM_015018;XM_006715393;XM_006715394;XM_006715395;XM_006715396;XM_006715397;XM_006715398;XM_006715399;XM_006715400;XM_006715401 AAH48342;AAI44545;AAI50620;BAA83069;BAB15631;BAG52924;CAB43259;EAW48672;EAW48673;EAW48674;EAW48675;EAW48676;NP_001186871;NP_055833;Q5JWR5;XP_006715456;XP_006715457;XP_006715458;XP_006715459;XP_006715460;XP_006715461;XP_006715462;XP_006715463;XP_006715464 Hs.520246;Hs.708998 1750837;1769666;1781108;2162933 A003M25;SHGC-104531;STS-H71321;stD6S367E.1 FLJ35610;KIAA1117;dJ202D23.2 OTTHUMP00000017983;OTTHUMP00000017984;homolog of yeast DOP1;protein dopey-1 protein-coding ENSG00000083097 HGNC:21194 10022 VALIDATED 1349923 DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 116124628 116130198 - 118967213 118973124 - 119096503 119102091 - 1580863;6480464;6907045;7240710;8554872;8699517 10024536;11805072;12417423;12477932;12592703;12618564;12855228;12872255;14702039;15231747;15489334;16344560;17207965;19519349;19549906;20301507;20693288;21048031;21145461;21906983;21963094;21988832;22304930;22341307;22505724;22742743;23178939;23249953;23278575;23447650;23591138;23703614;24816145;3038274;8125298;8179616;8244387;8889548;9451016 1798 F8W681;F8WE55;H7C2L6;Q9H3H5 AA833740;ABBA01039679;AF070443;AK095122;AK095718;AK128572;AK225994;AK301973;AK312783;AMYH02025661;AP003391;BC000325;BC047771;BM982950;BT006802;CH471065;DA023424;G29019;NG_008918;NM_001382;XM_005271422;Z82022 AAG43168;AAH00325;AAH47771;AAP35448;ADQ31680;BAG35646;BAG54694;BAG63385;CAB04787;EAW67452;EAW67453;EAW67454;EAW67455;NP_001373;Q9H3H5;XP_005271479 Hs.524081 2108035;2122072;2124953 D11S366;DPAGT1_8310;STS-R55620 ALG7;CDG-Ij;CDG1J;CMSTA2;D11S366;DGPT;DPAGT;DPAGT2;G1PT;GPT;UAGT;UGAT GlcNAc-1-P transferase;N-acetylglucosamine-1-phosphate transferase;OTTHUMP00000204052;OTTHUMP00000204055;UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase;UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase;dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P tra;dolichyl-phosphate alpha-N-acetylglucosaminyltransferase APPROVED protein-coding ENSG00000172269 HGNC:2995 01879 191350;608093;614750 REVIEWED 1316643 DOLPP1 dolichyldiphosphatase 1 A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] 9 9 9 q34.1 102495681 102505015 + 131843383 131852717 + 129081104 129090438 + 1580863;6480464;6907045;7240710;8554872 10369878;12198133;12477932;15164053;15489334;16344560;19322201;24250222;24816145;6243292 57171 H7BXT6;H7C1Z8;Q86YN1;Q8IUV4 ABBA01043915;ABBA01043916;AK290713;AK293627;AL592211;AMYH02021730;AMYH02021731;AY189675;BC009493;BC022553;BC033686;BC040152;BC067858;CH471090;DA590931;NM_001135917;NM_020438;NR_072983;Y17455;Y17456 AAH09493;AAH33686;AAH40152;AAO34712;BAF83402;BAG57084;CAB44348;CAB44349;EAW87867;EAW87868;EAW87869;EAW87870;EAW87871;EAW87872;NP_001129389;NP_065171;Q86YN1 Hs.21701 1800588;1803852;1809652;1809806;1810072;1819208;1820022;1831844;1839330;1842490;1842676;1843176;1843234;1844548;1844892;1930942;1930944;1930946;1930948;1930950;1930952;1930954;1930956;1930958;1930960;1930962;1930964;1930966;1930968;1930970;1930972;1930974;1930976;1930978;1930980;1930982;1930984;1930986;1930988;1930990;1930992;1930994;1930996;1930998;1931000;1931002;1931004;1931006;1931008;1931010;1931012;1931014;1931016;1931018;1931020;1931022;1931024;1931026;1931028;1931030;1931032;1931034;1931036;2127474;2138888;2208246;2208248;2208250;2208252;2208254;2208256;2208258 ECD01155;ECD02837;ECD05818;ECD05895;ECD06028;ECD10671;ECD11083;ECD17060;ECD20846;ECD22451;ECD22545;ECD22796;ECD22825;ECD23488;ECD23662;REN36300;REN36301;REN36302;REN36303;REN36304;REN36305;REN36306;REN36307;REN36308;REN36309;REN36310;REN36311;REN36312;REN36313;REN36314;REN36315;REN36316;REN36317;REN36318;REN36319;REN36320;REN36321;REN36322;REN36323;REN36324;REN36325;REN36326;REN36327;REN36328;REN36329;REN36330;REN36331;REN36332;REN36333;REN36334;REN36335;REN36336;REN36337;REN36338;REN36339;REN36340;REN36341;REN36342;REN36343;REN36344;REN36345;REN36346;REN36347;RH18168;SHGC-32219;stSG628178;stSG628179;stSG628180;stSG628181;stSG628182;stSG628183;stSG628185 LSFR2 OTTHUMP00000022326;OTTHUMP00000196902;dolichyl pyrophosphate phosphatase 1;linked to Surfeit genes in Fugu rubripes 2 APPROVED protein-coding ENSG00000167130 HGNC:29565 16835 614156;614516 REVIEWED 1313538 DPEP3 dipeptidase 3 This gene encodes a membrane-bound glycoprotein from the family of dipeptidases involved in hydrolytic metabolism of various dipeptides, including penem and carbapenem beta-lactam antibiotics. This gene is located on chromosome 16 in a cluster with another member of this family. Alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52518023 52522909 - 68009566 68014452 - 67975663 67980549 - 1580863;6480464 12477932;12738806;12975309;14702039;15489334;16344560;19060910;23867815 64180 Q9H4B8 ABBA01025468;AC040162;AJ291679;AK057401;AMYH02032244;AY358390;BC037243;BC057789;CH471092;DB020973;HC006938;NM_001129758;NM_022357 AAH57789;AAQ88756;BAG51910;CAC15385;CBH19274;EAW83197;EAW83198;EAW83199;NP_001123230;NP_071752;Q9H4B8 Hs.302028 MBD3 OTTHUMP00000174848;membrane-bound dipeptidase 3;metallopeptidase (family M19) APPROVED protein-coding ENSG00000141096 HGNC:23029 07012 609926 REVIEWED 1315376 DOT1L DOT1-like histone H3K79 methyltransferase The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011] 19 19 19 p13.3 2098311 2166754 + 2164148 2232577 + 2164149 2232578 + 1580863;1359080;6480464;6907045;7242554;7242632 12628190;22194015;23200123 11347906;12123582;12477932;12693554;14702039;15851025;16636056;16751776;17094487;17332896;17707234;17855633;18285465;18391950;18449190;19266077;19443658;19491102;19734945;19799466;19864429;20153263;20203130;20208522;20431927;20546612;20734064;20854876;20881960;21030982;21726816;21741597;21873227;21896721;22002246;22094252;22190683;22373577;22388813;22566624;22619169;23012353;23505243;23563607;23891621;23996074;24486544;24816405 84444 C9JH95;H7C2S2;H7C3N3;Q8TEK3;V9GY76 AB058717;ABBA01002713;ABBA01002714;AC004490;AC005257;AC005263;AC093456;AF509504;AK074120;AK095280;AL080221;AMYH02035185;AMYH02035186;BC021037;BC032803;CH471139;DQ595517;NG_029793;NM_032482;XM_005259659;XM_005259660;XM_006722923 AAC08316;AAI56104;AAM88322;BAB47443;BAB84946;EAW69408;EAW69409;EAW69410;EAW69411;NP_115871;Q8TEK3;XP_005259716;XP_005259717;XP_006722986 Hs.713641 1847492;5014051;5022425;5037552 A006Z36;D22S296;D8S2278;D8S2279 DKFZp586P1823;DOT1;KIAA1814;KMT4 DOT1-like protein;DOT1-like, histone H3 methyltransferase;H3-K79-HMTase;OTTHUMP00000197347;OTTHUMP00000197349;histone H3-K79 methyltransferase;histone methyltransferase DOT1L;histone-lysine N-methyltransferase, H3 lysine-79 specific;lysine N-methyltransferase 4 APPROVED protein-coding ENSG00000104885 HGNC:24948 10455 607375 REVIEWED 1606329 DPF1 D4, zinc and double PHD fingers family 1 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); zinc ion binding (inferred); INVOLVED IN nervous system development (ortholog); PARTICIPATES IN SWI/SNF family mediated chromatin remodeling pathway; FOUND IN nBAF complex (ortholog); INTERACTS WITH calcitriol; testosterone; thapsigargin 19 19 19 q13.2 35503879 35522555 - 38701649 38720317 - 38211009 38229677 - 6480464;8694154;9495920 21358755;23355908 12477932;14702039;16169070;20400511;22334708;22939629;8812431 8193 C8C3P2;C9IZH8;C9JGC1;E9PDV3;F8WEC4;J3KQY6;K7EJD5;Q6PJ73;Q92782 ABBA01040667;ABBA01040668;ABBA01040669;AC011479;AI857563;AI885717;AK094632;AK127198;AK297581;AK308563;AL529673;AL538568;AMYH02036063;BC021191;BC125152;BC125153;CH471126;GQ358728;NM_001135155;NM_001135156;NM_001289978;NM_004647;U43843;XM_005259288;XM_005259289;XM_005259290;XM_005259292;XM_006723407;XM_006723408;XM_006723409;XM_006723410;XR_243964 AAC50685;AAH21191;AAI25153;AAI25154;ACU65923;BAG52900;BAG59970;EAW56760;EAW56761;EAW56762;EAW56763;NP_001128627;NP_001128628;NP_001276907;NP_004638;Q92782;XP_005259345;XP_005259346;XP_005259347;XP_005259349;XP_006723470;XP_006723471;XP_006723472;XP_006723473 Hs.631576 1847818;2107023;5022651;5491415 D11S2921;DPF1_7914;MARC_11471-11472:1000830149:1;RH66771 BAF45b;MGC150428;MGC150429;NEUD4;neuro-d4 BRG1-associated factor 45B;OTTHUMP00000211611;OTTHUMP00000211612;OTTHUMP00000211613;OTTHUMP00000211614;OTTHUMP00000211615;OTTHUMP00000211635;neuro-d4 homolog;zinc finger protein neuro-d4 protein-coding ENSG00000011332 HGNC:20225 03393 601670 VALIDATED 1312184 DPH2 DPH2 homolog (S. cerevisiae) This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p34 42719187 42722577 + 44435653 44439043 + 43969981 43973371 + 6480464 12477932;14702039;15485916;16341674;20379614;21139048;21906983;21963094;22678362;23824909;24816145;7559470;8406038;9782084 1802 B3KRB8;E9PIY4;E9PJH6;E9PLL2;E9PMH7;E9PPU3;H0YCR5;H0YED1;Q9BQC3 AA252672;ABBA01050936;AF053003;AK091303;AK297933;AK315506;AL357079;AMYH02000910;BC001389;BC003181;BC016956;BM794530;BQ215136;BT007431;BX362196;CH471059;NM_001039589;NM_001384;XM_005270559 AAC18086;AAH01389;AAH03181;AAH16956;AAP36099;BAG37890;BAG52330;BAG60250;EAX07070;EAX07071;NP_001034678;NP_001375;Q9BQC3;XP_005270616 Hs.632398 1680619;1695000;1788604;2110373 DPH2L2_8312;G44713;MARC4093-4094;RH67811 DPH2L2;hsDph2 DPH2-like 2;OTTHUMP00000010007;OTTHUMP00000231247;diphthamide biosynthesis protein 2;diphthamide biosynthesis protein 2 homolog-like 2;diphthamide biosynthesis-like protein 2;diptheria toxin resistance protein required for diphthamide biosynthesis-like 2;dph2-like 2 (s. cerevisiae) APPROVED protein-coding ENSG00000132768 HGNC:3004 16023 603456 REVIEWED 1343930 DPH3P1 diphthamide biosynthesis 3 pseudogene 1 This gene may represent a processed pseudogene of DPH3, GeneID: 285381, because it lacks the exon/intron structure found in the functional gene. However, it does contain an intact open reading frame and it has not been established that the predicted protein is not translated. The NCBI RefSeq Project continues to treat this as a protein coding gene in agreement with Swiss-Prot. [provided by RefSeq, Jan 2014] 20 20 20 q13.33 58152507 58153574 + 61476476 61477543 + 62844566 62846191 + 1580863;6480464 11780052 100132911 Q9H4G8 ABBA01021373;AL035669;AMYH02037441;CH471077;NM_080750 EAW75332;NP_542788;Q9H4G8 5015619;5015861;7185938 D10S16;D11S3114 C20orf143;DPH3B;ZCSL1;dJ885L7.5 CSL-type zinc finger-containing protein 1;DPH3 homolog B (KTI11, S. cerevisiae);DPH3, KTI11 homolog pseudogene 1;DPH3B, KTI11 homolog B;putative DPH3 homolog B;zinc finger, CSL domain containing 1;zinc finger, CSL-type containing 1 APPROVED protein-coding HGNC:16136 VALIDATED 1319176 DPF3 D4, zinc and double PHD fingers, family 3 This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 14 14 14 q24.2 53199840 53423988 - 73085561 73360824 - 72616185 72894116 - 1580863;6480464;8694154;9479074;9495920;8554872 21358755;23355908;23642229 11329013;11845289;12477932;14702039;16109180;16344560;18765789;18978678;20400511;20613843;22334708;24155890;8812431 8110 F8W7T1;Q92784 ABBA01030778;ABBA01030779;ABBA01030780;ABBA01030781;ABBA01030782;ABBA01030783;ABBA01030784;ABBA01030785;ABBA01030786;AC004828;AC006360;AC007160;AK024141;AK123045;AK124615;AK124946;AK126074;AK126933;AK294425;AL392024;AMYH02029474;AMYH02029475;AMYH02029476;AMYH02029477;AY803021;BC021812;BC026305;BC060801;BG218220;CH471061;DA010060;DA407279;DB140241;DB172058;KF455938;KF455944;NM_001280542;NM_001280543;NM_001280544;NM_012074;U43919;XM_005268109 AAC50686;AAH60801;AAX20019;ABZ92269;BAB14838;BAC86753;BAH11762;EAW81076;EAW81077;EAW81078;EAW81079;EAW81080;NP_001267471;NP_001267472;NP_001267473;NP_036206;Q92784;XP_005268166 Hs.162868 1340829;1644153;1645820;1646240;1649329;1651218;1651243;1651939;1654916;1656124;1658846;1659915;1662491;1663109;1667235;1670900;1672819;1674013;1694852;1697338;1750341;1757037;1769675;1769996;1770526;1770528;1771146;1771958;1772577;1772858;1773304;1777431;1777808;1783128;1789068;1848623;1850516;1851874;1852839;1852841;2112136;2112160;2114315;2117678;2118064;2123720;2124922;2125472;2130216;2130355;2130421;2134434;2134436;2135823;2139360;2140917;2143008;2144765;2145832;2150008;2153051;2153746;2155627;2158646;2158717;2161118;2163276;2163858;2165803;2170643;2174386;2176242;2176255;2177971;2179071;2219080;7187453 2202;A003A38;D14S1359;D14S1389;D14S268;D14S620;D14S686E;D14S844;D14S970;DPF3_3903;G35355;G35438;G35492;G35604;G35666;G35723;G35999;G36010;G36180;G38089;G38090;G38096;G38101;G38102;G38103;G38104;G38107;G38109;G38110;G38111;G38112;G38113;G38114;G38115;G38144;G38148;G38149;G38150;G38162;G38166;G38171;G38178;G38179;G38187;G38188;G38189;G38232;G38236;G38237;G38239;G38242;G38280;G38290;G38291;G38303;G38304;G38305;G38306;G38307;G38308;G38310;G38330;G44295;G65728;RH102166;RH44926;RH68451;RH69749;RH70379;RH78827;SHGC-112521;SHGC-144397;SHGC-171913;SHGC-31147;WI-14203;WI-15247 BAF45C;CERD4;FLJ14079 2810403B03Rik;BRG1-associated factor 45C;OTTHUMP00000245909;OTTHUMP00000245910;OTTHUMP00000245911;OTTHUMP00000245912;cer-d4 homolog;zinc finger protein DPF3;zinc finger protein cer-d4 protein-coding ENSG00000205683 HGNC:17427 03395 601672 REVIEWED 1323292 DPF2 D4, zinc and double PHD fingers family 2 The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008] 11 11 11 q13 62427688 62446793 + 65101225 65120451 + 65333754 65352980 + 1580863;6480464;8694154;9495920 21358755;23355908 11845289;12477932;14702039;14743216;15231747;15302935;15489334;16217013;17081983;18029348;18255255;18809673;19454010;19471022;19759913;19850743;20305087;20360068;20400511;20460684;20571937;21139048;21145461;21888896;21890473;21906983;22334708;22939629;22990118;23000965;23275444;23281010;24250222;24255178;24457600;24816145;7961935;8812431;9253601;9680388 5977 E9PN04;H0YEI1;J3KMZ8;Q92785 ABBA01024128;ABBA01024129;AF001433;AK096796;AK291944;AK300061;AK313408;AMYH02024955;AMYH02024956;AP000944;AY220877;BC014889;BT006718;BX641135;CH471076;DB500335;NM_006268;U43920;U94585;XM_005274149 AAB58307;AAB81203;AAC50687;AAH14889;AAO26041;AAP35364;ABM83323;ABM86538;BAF84633;BAG61870;EAW74375;EAW74376;EAW74377;NP_006259;Q92785;XP_005274206 Hs.13495 1673598;1712124;1774397;1789997;1847577;1856918;2156479;2191487;5022200;5022651;5024039;5037552;5037554;5118444 D11S2302E;D11S2921;D11S3316;D16S325;D6S1214E;D8S2279;D8S2282;G33111;G54111;L18426;MARC_23907-23908:1042828544:1;RH45882;SHGC-53496;csnpreq-pcr1-1 BAF45D;MGC10180;REQ;UBID4;ubi-d4 BRG1-associated factor 45D;OTTHUMP00000231631;OTTHUMP00000231633;apoptosis response zinc finger protein;protein requiem;requiem, apoptosis response zinc finger;zinc finger protein ubi-d4 APPROVED protein-coding ENSG00000133884 HGNC:9964 03394 601671 REVIEWED 6770716 DPH6-AS1 DPH6 antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 15 15 15 12597709 12911193 + 35838396 36151202 + 35546195 35859001 + 8554872 23776197;24045676 100507466 ABBA01038500;ABBA01038501;ABBA01038502;AC015994;AC068867;AC087487;AMYH02030190;AMYH02030191;AMYH02030192;BC025664;HG506859;KF456030;KF456031;KF456032;NR_038251 Hs.536420 1654234;1718243 G17868;RH122891 ATPBD4-AS1;RP11-702M1.1 APPROVED ncrna ENSG00000248079 HGNC:44147 VALIDATED 1352320 DPH1 diphthamide biosynthesis 1 Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH1 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008] 17 17 17 p13.3 1950015 1963371 + 1933431 1947183 + 2030137 2043431 + 6480464 10519411;11013075;11527402;12477932;12621583;14702039;15485916;18931663;20308539;21139048;21487939;21890473;21906983;21963094;21987572;22678362;22797925;22869748;24070652;8603384;8616839 1801 B3KQW7;I3L1H5;I3L3X9;K7EQQ6;Q9BZG8;U3KQN3;V9GYC0;V9GYS2 ABBA01054687;ABBA01054688;AC090617;AC099684;AF321876;AK090530;AK098268;AK297947;AK314015;AL580693;AMYH02032760;AMYH02032761;BC003099;BC013205;BC096086;BC096087;BC096088;BC096089;BP417755;BT019878;CH471108;NM_001383;S81752;U34880 AAB36297;AAD10198;AAH03099;AAH96088;AAK13428;AAV38681;ABM82784;ABM85973;BAG36726;BAG52179;BAG60262;EAW90566;EAW90567;EAW90569;NP_001374;Q9BZG8 Hs.513856 1655243;1720279;1746083;1746661;1746663;1746665;1746667;1746669;1746671;1746673;1746675;1746677;1746679;1746681;1775180;2156718;5014051;5020740;5022651;5024413;5037552 D11S2921;D8S2278;D8S2279;G54857;G54876;G54878;G54879;G54880;G54881;G54882;G54884;G54885;G54886;G54887;G54888;L17809;L17877;RH123888;RH18399;RH78032;WI-14017 DPH2L;DPH2L1;FLJ33211;OVCA1;hsDph1 DPH-like 1;DPH1 homolog;DPH2-like 1;candidate tumor suppressor in ovarian cancer 1;diphthamide biosynthesis protein 1;diphthamide biosynthesis protein 2 homolog-like 1;diphthamide biosynthesis protein 2-like;diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1;diptheria toxin resistance protein required for diphthamide biosynthesis-like 1;dph2-like 1 (s. cerevisiae);ovarian cancer-associated gene 1 protein;ovarian tumor suppressor candidate 1 APPROVED protein-coding ENSG00000108963 HGNC:3003 04634 603527 VALIDATED 1602122 DPH5 diphthamide biosynthesis 5 This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p21.2 99716901 99753082 - 101455179 101491365 - 100989623 101025806 - 6480464 10737800;10810093;10931946;11042152;12477932;15485916;15489334;16344560;21139048;21906983;21963094;22053931;23459443;23486472;8125298;8889548 51611 B3KWP1;Q96DC6;Q9H2P9 ABBA01045430;ABBA01045431;ABBA01045432;ABBA01045433;ABBA01045434;AC093157;AF132964;AF157319;AF161492;AF248965;AK125485;AK225469;AK225707;AK225951;AK289351;AK298181;AMYH02001561;AMYH02001562;AMYH02001563;BC009620;BC034669;BC053857;BI907367;BM808505;CH471097;CK002046;DA133565;NM_001077394;NM_001077395;NM_015958;XM_005270938;XM_005270939;XM_005270941;XM_006710683 AAD27739;AAF29107;AAF67485;AAG44563;AAH09620;AAH53857;BAF82040;BAG54203;BAG60452;EAW72932;EAW72933;EAW72934;EAW72935;EAW72936;EAW72937;EAW72938;EAW72939;EAW72940;EAW72941;NP_001070862;NP_001070863;NP_057042;Q9H2P9;XP_005270995;XP_005270996;XP_005270998;XP_006710746 Hs.440776 1644024;2160132 RH68640;SHGC-34933 AD-018;CGI-30;HSPC143;MGC61450;NPD015 DPH5 homolog;OTTHUMP00000012522;OTTHUMP00000012523;OTTHUMP00000012524;diphthamide biosynthesis methyltransferase;diphthine synthase;protein x 0011 APPROVED protein-coding HGNC:24270 13037 611075 REVIEWED 1603188 DPH6 diphthamine biosynthesis 6 ENCODES a protein that exhibits ATP binding (inferred); diphthine-ammonia ligase activity (inferred); INVOLVED IN peptidyl-diphthamide biosynthetic process from peptidyl-histidine (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 15 15 15 q14 12422457 12597717 - 35657670 35838597 - 35365469 35546605 - 6480464;8554872 12477932;14702039;15489334;16344560;19913121;20379614;20628086;21890473;21906983;21963094;22505724;23169644;23468660;24250222 89978 H0YND7;H0YNH5;Q7L8W6 ABBA01038502;ABBA01038503;ABBA01038504;ABBA01038505;AC015994;AC019288;AK094007;AK125017;AL833427;AMYH02030189;AMYH02030190;BC008485;BC066652;BX537862;CH471125;DB250468;NM_001141972;NM_080650;XM_005254751;XM_005254752 AAH08485;AAH66652;BAC04266;BAG54123;EAW92327;NP_001135444;NP_542381;Q7L8W6;XP_005254808;XP_005254809 Hs.107196 1662045;1704586;1705976;1719483;1771731;2109505;5037552 D8S2279;MGC14798__7670;RH123461;RH17459;SHGC-34254;SHGC-79698;SHGC-83102 ATPBD4;MGC14798 ATP binding domain 4;ATP-binding domain-containing protein 4;DPH6 homolog;OTTHUMP00000160179;diphthamide synthase;diphthamide synthetase;diphthine--ammonia ligase APPROVED protein-coding ENSG00000134146 HGNC:30543 14443 VALIDATED 1349412 DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008] 1 1 1 q22 128183959 128184588 - 155112367 155112996 - 155139891 155140520 - 1580863;6480464;6907045;7240710;8554872;8699517 10835346;11226175;11420690;12477932;16280320;16710414;19946888;20301507;22001757;23535732 54344 Q86TM7;Q9P2X0 AB028128;ABBA01016716;AF312922;AF312923;AK293625;AL691442;AMYH02001940;BC032223;BC065233;BC104202;BC104203;BC104481;CH471121;CS488898;NG_012871;NM_018973;NM_153741 AAH32223;AAH65233;AAI04203;AAI04204;AAI04482;AAK28486;AAK28487;BAA96291;BAG57082;CAM55972;EAW53125;EAW53126;NP_061846;NP_714963;Q9P2X0 Hs.110477 1645472;2220670 A008V48;UniSTS:489903 CDG1O;MGC125904;MGC125905;MGC34275 DPM synthase complex subunit 3;DPM synthase subunit 3;MPD synthase subunit 3;OTTHUMP00000033283;OTTHUMP00000033284;OTTHUMP00000033285;dolichol-phosphate mannose synthase subunit 3;dolichol-phosphate mannosyltransferase subunit 3;dolichyl-phosphate beta-D-mannosyltransferase subunit 3;mannose-P-dolichol synthase subunit 3;prostin 1;prostin-1 APPROVED protein-coding ENSG00000179085 HGNC:3007 16179 605951;612937 REVIEWED 736541 DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008] 9 9 9 q34.13 101348597 101351986 - 130697374 130700763 - 127935095 127938484 - 6480464;6907045;8699517;7240710;8554872 10835346;10944123;11102867;11591653;12477932;16280320;20301507;21103663;23109149;8617505;9724629 8818 O94777;Q5T9C7 AB013361;AB451329;AB451473;ABBA01043855;AF061729;AI954002;AK312121;AL157935;AMYH02021701;BC015233;BC015374;BC048256;BC107863;CR542134;NG_032927;NM_003863 AAG43140;AAH15233;AAH15374;AAI07864;BAA33974;BAG35057;BAG70143;BAG70287;CAG46931;NP_003854;O94777 Hs.108973 1768819;2122121 RH36182;STS-W80399 CDG1U;FLJ80013;MGC111193;MGC21559 DPM synthase complex subunit;DPM synthase subunit 2;OTTHUMP00000022224;OTTHUMP00000022226;dolichol phosphate-mannose biosynthesis regulatory protein;dolichol phosphate-mannose synthase 2;dolichol-phosphate mannose synthase subunit 2;dolichol-phosphate mannosyltransferase 2 APPROVED protein-coding ENSG00000136908 HGNC:3006 16028 603564;615042 REVIEWED 1313962 DPEP2 dipeptidase 2 DPEP2 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM, Mar 2008] 16 16 16 q22.1 52529750 52541821 - 68021293 68034493 - 67987390 68000590 - 1580863;6480464;8554872 12477932;12738806;12975309;14702039;15342556;15489334;16335952;16344560;18193043 64174 I3L248;I3L348;I3L4H3;J3KSU4;J3QLL2;Q9H4A9 ABBA01025468;ABBA01025469;AC040162;AJ295149;AK092884;AK298003;AK315090;AMYH02032244;AY358454;BC024021;BP299049;CB528462;CH471092;DA677374;DB038910;KC877614;NM_022355;XM_005256085;XM_005256086;XM_005256087;XM_005256090;XM_005256091;XM_006721244;XR_243420 AAH24021;AAQ88819;BAG37555;BAG52621;BAG60309;CAC14667;EAW83200;EAW83201;EAW83202;EAW83203;EAW83204;NP_071750;Q9H4A9;XP_005256142;XP_005256143;XP_005256144;XP_005256147;XP_005256148;XP_006721307 Hs.372633 1770010;2175471 SHGC-60762;SHGC-60842 MBD2 OTTHUMP00000174846 APPROVED protein-coding ENSG00000167261 HGNC:23028 07011 609925 VALIDATED 1346924 DPH3 diphthamide biosynthesis 3 This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009] 3 3 3 p25.1 16237487 16245416 - 16298568 16306496 - 16257061 16264989 - 1580863;6480464;8554872 12477932;14527407;14702039;14980502;15485916;15489334;16344560;16648478;18029348;18214955;21988832 285381 Q96FX2 ABBA01025131;AC090953;AK022970;AK023203;AK092040;AK311618;AMYH02006341;BC010181;BC073931;BC094863;CH471055;DA447430;DA875039;NM_001047434;NM_206831 AAH10181;ADZ15684;EAW64268;EAW64269;NP_001040899;NP_996662;Q96FX2 Hs.388087 1694458;1698052;1735342;2132764;2177856;2185587 A008J21;D3S2963E;G42949;RH102557;SHGC-30634;SHGC-76745 DELGIP1;DESR1;DPH3A;KTI11;MGC20197;ZCSL2 CSL-type zinc finger-containing protein 2;DELGIP;DPH3 homolog;DPH3 homolog (KTI11, S. cerevisiae);DPH3, KTI11 homolog;DPH3A, KTI11 homolog A;Del-GEF interacting protein;OTTHUMP00000160305;OTTHUMP00000211113;deafness locus putative guanine nucleotide exchange factor interacting protein 1;delGEF-interacting protein 1;diphtheria toxin and Pseudomonas exotoxin A sensitivity required gene 1;zinc finger, CSL domain containing 2;zinc finger, CSL-type containing 2 APPROVED protein-coding HGNC:27717 16412 608959 REVIEWED 7369344 DPP10-AS1 DPP10 antisense RNA 1 2 2 2 q14.1 109223756 109242533 - 115901625 115918920 - 115144048 115161343 - 12477932;21697133 389023 AB593078;ABBA01045968;AC066593;AMYH02004613;BC032913;BC048425;HG494534;HG494535;NR_036580 Hs.97540 AC066593.1 ncrna ENSG00000235026 HGNC:40941 VALIDATED 1320840 DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 46255665 46279320 - 49551404 49575081 - 50934867 50958544 - 1580863;6480464;6907045;7240710;8554872;8699517 10642597;10642602;10835346;11780052;12477932;15489334;15669674;16169070;16280320;17081983;17207965;17215244;17314511;17353931;18187620;19946888;20301507;21139048;21890473;21906983;21963094;21987572;22268729;23000965;23455922;23464991;24457600;24816145;9223280;9535917;9724629 8813 H0Y368;O60762;Q5QPJ9;Q5QPK2 ABBA01052791;ABBA01052792;AF007875;AK289569;AL034553;AMYH02037249;AMYH02037250;BC007073;BC008427;BC008466;BC016322;CH471077;CR456926;D86198;D86202;NG_008923;NM_003859;XM_005260600;XM_005260601;XM_005260602;XR_244156 AAC98797;AAH07073;AAH08466;AAH16322;ADQ31633;BAA25646;BAA25647;BAF82258;CAG33207;EAW75607;EAW75608;EAW75609;NP_003850;O60762;XP_005260657;XP_005260658;XP_005260659 Hs.654951 1335922;1341293;1722677;2116148;2142182;2142184;2148426;2219938;7186736 A001U10;D20S196;D20S869;G19654;G60423;MOCS3__6331;RH45780;SHGC-32757 MPDS CDGIE;DPM synthase;DPM synthase complex, catalytic subunit;DPM synthase subunit 1;MPD synthase;MPD synthase subunit 1;OTTHUMP00000031285;OTTHUMP00000031286;OTTHUMP00000031287;OTTHUMP00000031288;dolichol monophosphate mannose synthase;dolichol-phosphate mannose synthase;dolichol-phosphate mannose synthase subunit 1;dolichol-phosphate mannosyltransferase;dolichol-phosphate mannosyltransferase subunit 1;dolichyl-phosphate beta-D-mannosyltransferase;dolichyl-phosphate beta-D-mannosyltransferase subunit 1;mannose-P-dolichol synthase;mannose-P-dolichol synthase subunit 1 APPROVED protein-coding ENSG00000000419 HGNC:3005 04613 603503;608799 REVIEWED 1312556 DPH7 diphthamide biosynthesis 7 WDR85 is a WD repeat-containing protein that plays a role in the first step of diphthamide biosynthesis (Carette et al., 2009 [PubMed 19965467]).[supplied by OMIM, Feb 2010] 9 9 9 q34.3 110973625 110997065 - 140449354 140473387 - 137554902 137578935 - 737633;6480464 12477932 14702039;15164053;15489334;17207965;19965467;20379614;21890473;21906983;21963094;23486472;25011449 92715 Q9BTV6 ABBA01022777;AJ420445;AK075115;AK307180;AK308998;AK310226;AK310987;AL365502;AMYH02021941;AMYH02021942;BC003123;BC016349;BC017335;BC040173;CH471090;CQ783158;NM_138778;XM_005266123;XM_005266124;XM_005266125;XM_005266126;XM_005266128;XM_005266129;XM_005266130 AAH03123;AAH17335;AAH40173;ADQ32716;BAC11411;CAF86364;EAW88400;EAW88401;NP_620133;Q9BTV6;XP_005266180;XP_005266181;XP_005266182;XP_005266183;XP_005266185;XP_005266186;XP_005266187 Hs.292570 1664050;1664052;1848436;2115303 A005T03;G20473;WI-14048;WI-22541 C9orf112;FLJ90634;RP11-48C7.3;RRT2;WDR85 OTTHUMP00000022705;WD repeat domain 85;WD repeat-containing protein 85;chromosome 9 open reading frame 112;diphthamide biosynthesis protein 7 APPROVED protein-coding ENSG00000148399 HGNC:25199 12934 613210 PROVISIONAL 1315036 DPP10 dipeptidyl-peptidase 10 (non-functional) This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 2 q14.1 108522610 109924481 + 115199899 116603328 + 114442322 115845752 + 1331525;1580863;4889866;4892275;4892278;4892274;4892276;6480464;8554872 14566338;15118671;17967935;19672052;21103062 10819331;12477932;12662155;12675227;14702039;15454437;15489334;15671030;15829243;15911355;16290253;16899223;17475505;17702965;17703412;19237393;19247692;19258923;19264973;19308021;19676137;19736351;19910028;19910030;19913121;19951440;19996348;20085599;20200978;20354865;20379614;20414141;20451256;20503287;20628086;20701904;20816195;21254220;22298003;22387313;23251661;23824909;24058526 57628 B2RCJ8;B4DKB5;C9J4M8;F8WEB2;J3KPP1;J3KQK8;Q0GLB7;Q0GLB9;Q8N608 AB040925;ABBA01045962;ABBA01045963;ABBA01045964;ABBA01045965;ABBA01045966;ABBA01045967;ABBA01045968;ABBA01045969;ABBA01045970;ABBA01045971;ABBA01045972;AC010885;AC012071;AC016721;AC017040;AC066593;AC067947;AC068542;AC093610;AC105422;AC116620;AC118276;AC118664;AK025075;AK055256;AK289967;AK296490;AK315147;AMYH02004607;AMYH02004608;AMYH02004609;AMYH02004610;AMYH02004611;AMYH02004612;AMYH02004613;AMYH02004614;AMYH02004615;AMYH02004616;AMYH02004617;AMYH02004618;AW771124;AY172661;AY387785;BC030832;BC038514;BI597037;CH471103;DQ857321;DQ857322;DQ857323;KF456696;KF510751;N47251;NM_001004360;NM_001178034;NM_001178036;NM_001178037;NM_020868;XM_005263718;XM_006712650;XR_427104 AAH30832;AAO17263;AAQ91190;AAY14685;AAY14930;AAY15025;AAY15032;AAY24120;ABI16085;ABI16086;ABI16087;ABM83319;ABM86534;BAA96016;BAF82656;BAG37595;BAG59127;EAW95186;EAW95187;EAW95188;NP_001004360;NP_001171505;NP_001171507;NP_001171508;NP_065919;Q8N608;XP_005263775;XP_006712713 Hs.580539 1298137;1337072;1341698;1677450;1684068;1686558;1690488;1705304;1708952;1710600;1715095;1717385;1719315;1720089;1723529;1724481;1725233;1726979;1727097;1732681;1751089;1751569;1754231;1761091;1784304;1854851;2151751;2162138;2163331;2173558;5092850;7183244 A009A48;BCD1353;CHLC.GATA28E11;D2S1265;D2S1860;D2S308;D2S410;G32370;G62736;G62951;RH118582;RH118909;RH119499;RH122183;RH122499;RH123380;RH123786;RH25445;RH45893;RH69642;RH92312;RH92842;SGC38169;SHGC-105027;SHGC-105514;SHGC-132255;SHGC-145072;SHGC-78609;SHGC-79408;SHGC-79533;SHGC-83986 DPL2;DPP X;DPPY;DPRP-3;DPRP3 OTTHUMP00000203618;OTTHUMP00000203676;OTTHUMP00000203678;OTTHUMP00000203679;dipeptidyl peptidase 10;dipeptidyl peptidase IV-related protein 3;dipeptidyl peptidase X;dipeptidyl peptidase like protein 2;dipeptidyl peptidase-like protein 2;dipeptidylpeptidase 10;inactive dipeptidyl peptidase 10 APPROVED protein-coding ENSG00000175497 HGNC:20823 07083 608209 VALIDATED 7383220 DPP10-AS3 DPP10 antisense RNA 3 2 2 115586009 115591125 - 114828432 114833548 - 23251661 101927591 ABBA01045971;ABBA01045972;AC068542;AMYH02004609;XR_244839;XR_249198;XR_251160 ncrna ENSG00000231538 HGNC:40939 MODEL 736150 DPP3 dipeptidyl-peptidase 3 This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2012] 11 11 11 q12-q13.1 63568130 63597365 + 66247484 66277130 + 66480013 66509659 + 1580863;6480464;8554872 10387075;10773679;10873616;11181995;11209758;12477932;14529681;14687922;14702039;14759258;15489334;16097034;16169070;18029348;18163885;19615732;20236318;2044841;21044950;21139048;21693764;21832049;21906983;21926972;21963094;22493238;22505724;22863883;22939629;22990118;23362197;23382044;23667907;24322982;24472318;24816145;2858361;2906822;3233187;3348886;3791505;618680;6368131;7041700;7044004;8125298;9425109;9640230;9711218 10072 E9PKK8;E9PNX5;E9PPK9;E9PQ14;E9PQF2;G3V180;G3V1D3;Q5JPB8;Q9NY33 AB017970;ABBA01024074;ABBA01024075;ABBA01024076;AJ271216;AK021449;AK025984;AK222566;AK222847;AK297199;AK304581;AK315478;AL137670;AL833475;AMYH02024979;AP002748;BC001446;BC007221;BC014038;BC024271;CD366941;CH471076;DC325853;DC403406;DC407885;NG_032068;NM_001256670;NM_005700;NM_130443 AAH01446;AAH07221;AAH14038;AAH24271;ABM83111;ABM86305;BAA75785;BAB13828;BAD96286;BAD96567;BAG37862;BAG59686;BAG65369;CAB72433;CAI46122;EAW74538;EAW74539;EAW74540;EAW74541;EAW74543;EAW74544;NP_001243599;NP_005691;NP_569710;Q9NY33 Hs.502914;Hs.740670 1855352;2119788;2140960;5095736;5121065;5124046 D4S3182;G60290;RH47804;RH47870;SHGC-59694;SHGC-8631 DPPIII;FLJ11387;FLJ22331 DPP III;OTTHUMP00000235327;OTTHUMP00000235328;OTTHUMP00000235329;OTTHUMP00000235332;dipeptidyl aminopeptidase III;dipeptidyl arylamidase III;dipeptidyl peptidase 3;dipeptidyl peptidase III;dipeptidylpeptidase 3;enkephalinase B APPROVED protein-coding ENSG00000254986 HGNC:3008 06012 606818 REVIEWED 733882 DPP7 dipeptidyl-peptidase 7 The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 110519219 110522731 - 140004992 140009204 - 137110540 137114752 - 70613;1580863;6480464 11139392 10477574;10567372;11067927;11173530;12005022;12477932;12529175;1515698;15231747;15489334;18823758;19556882;20534982;21890473;21906983;21963094;21987572;2207678;22268729;22863883;22939629;22952628;2727382;8096464 29952 Q9UHL4;R4GMR2;R4GMU5;R4GMV4;R4GN05;R4GNE8 AB209787;ABBA01022742;AF154502;AK292112;AK293700;AK298288;AL533195;AL929554;AMYH02021922;BC011907;BC016961;BF342300;BX400716;CH471090;NM_013379;XM_005266075;XM_006717083 AAF12747;AAH11907;AAH16961;ABM82386;ABM85563;BAD93024;BAF84801;BAG57135;BAG60548;EAW88349;NP_037511;Q9UHL4;XP_005266132;XP_006717146 Hs.37916 1699204 RH103183 DPP II;DPP2;DPPII;QPP OTTHUMP00000022680;carboxytripeptidase;dipeptidyl aminopeptidase II;dipeptidyl arylamidase II;dipeptidyl peptidase 2;dipeptidyl peptidase II;dipeptidyl-peptidase II;dipeptidylpeptidase 7;quiescent cell proline dipeptidase APPROVED protein-coding ENSG00000176978 HGNC:14892 07634 610537 REVIEWED 1346119 DPPA1 developmental pluripotency associated 1 359784 AF490345 HGNC:18134 737491 DPP4 dipeptidyl-peptidase 4 The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. [provided by RefSeq, Jul 2008] 2 2 2 q24.3 156458999 156541354 - 162848751 162931052 - 161992241 162074542 - 1580863;2313699;2313700;2313702;6480464;8554872 19073764;19705345;19765579 10593948;10880264;10899322;10900005;10961862;11278278;11390394;11487543;11549856;11696365;11739156;11739489;11772392;11773049;11831694;11882590;11901152;12023964;12031601;12047913;12095981;12112826;12175726;12176563;12213886;12239451;12437097;12471135;12477932;12483204;12529175;12579300;12595736;12634639;12646248;12675218;12675220;12675229;12675231;12675232;12675233;12675238;12675243;12675245;12675246;12675247;12675248;12675253;12675254;12690074;12727530;12752434;12767062;12790770;12820316;12832764;12906826;1347043;1352530;1352704;1362202;14525771;14630704;14684150;14684825;14691230;14718659;15002062;15016824;15027119;15052268;15146553;15175333;15213224;15215186;15292258;15323360;15353589;15375776;15448155;15489334;15490304;15540901;15681827;15695814;15797249;15819895;15864535;15866709;15911629;15985311;16335952;16611738;16621928;16651416;16670267;16700508;16700520;16700525;16704418;1677636;16778789;16781669;1680916;16829852;17071493;17091451;17244786;17270095;17287217;17492130;17525828;17549790;17610364;17786309;17846797;17897319;17904681;17944883;17949241;18007554;18189200;18496701;18520029;18538760;18563594;18595667;18606664;18682883;18708048;18820218;18940185;18976975;18983807;19024603;19061927;19153055;19247978;19327104;19358731;19459926;19469710;19632987;19654580;19687096;19734982;1975616;19762327;1977364;19811413;19817894;19913121;19917055;19946888;20008019;20043068;20075514;20155839;20185737;20198559;20361950;20455069;20459800;20468064;20495958;20520837;20534982;20569697;20572019;20584285;20628086;20628624;20805868;20828536;20841351;20847730;20878214;20942971;21108831;21198750;21281985;21284881;21334743;21526345;21558160;21593202;21614532;21656024;21672052;21674250;21785903;21856036;21894438;21917073;21951552;21988832;22001206;22062893;22086610;22153807;22167343;22179204;22185679;22261805;22369943;22382050;22388283;22406180;22504421;22539793;22561447;22648548;22674411;22806538;22846168;22908963;22949266;22982114;23035207;23063136;23113658;23122333;23160239;23184393;23197976;23219738;23327927;23382843;23437290;23469960;23486063;23544270;23548652;23575259;23586735;23603488;23608773;23638030;23654079;23677473;23686701;23880984;23894014;23948634;23984879;24067970;24099410;24180670;24257613;24342026;24379520;24412911;24466195;24481594;24743707;24747072;24778155;24782177;24825423;7487939;7522442;7539755;7585218;7594462;7833626;7903479;7911242;7912830;7927537;8094732;8095514;8096237;8101391;8635502;8763423;8806567;8852605;8925885;9103436;9185130;9252108;9263011;9330689;9330696;9330699;9374514;9516414;9537773;9645485;9671214;9685737;9710254;9933589 1803 F8WBB6;F8WE17;H7C1N5;P27487 AB451339;AB451488;ABBA01004890;ABBA01004891;AC008063;AK314798;AMYH02005094;AY429531;AY429532;AY429533;BC013329;BC065265;CH471058;CQ772397;HI179156;M74777;M80536;NM_001935;S79876;U13710;U13711;U13712;U13713;U13714;U13715;U13716;U13717;U13718;U13719;U13720;U13721;U13722;U13723;U13724;U13725;U13726;U13727;U13728;U13729;U13730;U13731;U13732;U13733;U13734;U13735;X60708;XM_005246371 AAA51943;AAA52308;AAB35614;AAB60646;AAH13329;AAH65265;AAX93179;BAG70153;BAG70302;CAA43118;CAF33874;CBX53886;EAX11361;EAX11362;NP_001926;P27487;XP_005246428 Hs.368912 1644714;1671036;1769736;1778422;1795698;5094998;5117294;5120205 DPP4;DPP4_22;GDB:207675;GDB:456160;RH17451;RH47162;SHGC-118;SHGC-12694 ADCP-2;ADCP2;CD26;DPP IV;DPPIV;TP103 ADABP;OTTHUMP00000162936;T-cell activation antigen CD26;adenosine deaminase complexing protein 2;dipeptidyl peptidase 4;dipeptidyl peptidase IV;dipeptidyl-peptidase 4 (CD26, adenosine deaminase complexing protein 2);dipeptidylpeptidase 4;dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2) APPROVED protein-coding ENSG00000197635 HGNC:3009 02187 102720 REVIEWED 7175920 DPPA2P2 developmental pluripotency associated 2 pseudogene 2 1 1 1 p36.11 25242796 25243943 - 26845608 26846755 - 26519117 26520264 - 100128503 ABBA01034911;AL627313;AMYH02000568;NG_012273 pseudo HGNC:44627 INFERRED 1348790 DPPA2 developmental pluripotency associated 2 ENCODES a protein that exhibits chromatin binding (inferred); nucleic acid binding (inferred); INVOLVED IN lung-associated mesenchyme development (inferred); positive regulation of stem cell proliferation (inferred); regulation of histone methylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH nickel atom; trichostatin A; valproic acid 3 3 3 q13.13 107411395 107434045 - 109012635 109035364 - 109293788 109316517 - 6480464;8554872 12477932;15489334;15583978;16189514;18029348;18467432;18519755;19705800;20379614;21896782;22379092;23761726;23963736;24532429 151871 Q7Z7J5 AA460929;ABBA01061692;ABBA01061693;ABBA01061694;AC076971;AMYH02007409;AY283672;BC018070;CH471052;NM_138815;XM_006713509;XM_006713510 AAH18070;AAP37285;EAW79709;EAW79710;NP_620170;Q7Z7J5;XP_006713572;XP_006713573 Hs.351113 1683116 RH98343 CT100;ECAT15-2;PESCRG1 OTTHUMP00000214409;cancer/testis antigen 100;developmental pluripotency-associated protein 2;embryonic stem cell (ESC) associated transcript 15-2;pluripotent embryonic stem cell-related gene 1 protein protein-coding ENSG00000163530 HGNC:19197 13248 614445 VALIDATED 68590 DPP6 dipeptidyl-peptidase 6 This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 7 7 7 q36.2 148318756 148319129 - 153584419 154264025 + 153748189 154894285 + 68240;1580863;5687182;5687181;5687186;6480464;5687188;7240710;8699517;8554872 1729689;18708572;19285295;19332697;20137488 11173531;12477932;12575952;12853948;15146195;15454437;15476821;15671030;15890703;15911355;16123112;16344560;16764835;18057069;18084291;18364354;18519826;18987618;19193627;19525032;19676137;19901547;19913121;20001489;20379614;20573902;20628086;20685689;20686608;21826085;22479372;23069673;23225603;23382691;23527680;23532596;23534349;23692269;23832105;24225951;7566098;8103397;8889548;9847074 1804 A7E2E4;B7Z299;E9PDL2;E9PF59;P42658;Q8IYG9 ABBA01009477;ABBA01015993;ABBA01015994;ABBA01015995;ABBA01015996;ABBA01015997;ABBA01051061;ABBA01051062;ABBA01051063;AC005588;AC005998;AC006019;AC006973;AC007129;AC024239;AC024730;AC073336;AC099341;AC104594;AC142230;AEKP01160869;AI458476;AK001153;AK126619;AK131502;AK293582;AK294483;AK308993;AK309760;AMYH02017117;AMYH02017118;AMYH02017119;AMYH02017120;AMYH02017121;AMYH02017122;AMYH02017123;AMYH02017126;AMYH02017127;BC035912;BC150304;BE549875;BM931444;BU151391;BU788059;BX647966;CH236962;CH471149;DA071922;DA156107;DA911296;GL000059;HY037545;M96859;M96860;NG_033878;NM_001039350;NM_001290252;NM_001290253;NM_001936;NM_130797;R86717;T28117;XM_006715871;XM_006715872 AAA35760;AAA35761;AAH35912;AAI50305;AAS07493;AAS07504;AAS07508;AAS07518;BAH11539;BAH11785;EAX04521;EAX04522;NP_001034439;NP_001277181;NP_001277182;NP_001927;NP_570629;P42658;XP_006715934;XP_006715935 Hs.490684;Hs.551097;Hs.669076;Hs.703229 1337742;1337945;1338707;1340786;1341826;1645689;1649258;1650496;1654005;1654870;1657907;1660684;1668600;1670892;1682163;1688231;1696734;1703906;1725047;1735684;1749979;1752117;1758871;1758953;1760401;1762173;1762595;1763471;1764691;1766283;1767063;1768007;1768642;1786224;1786226;1786230;1854190;1856568;1857288;2118830;2122336;2131675;2138497;2139226;2141711;2142763;2143458;2144493;2161124;2163694;2165351;2165918;2169668;2170689;2170750;2171263;2171697;2179342;2179907;2180733;2181466;2184424;2185166;7183256;7185053;7185484;7185577;7188891;7188895 A006E05;A006U34;D20S170;D4S3205;D7S1521;D7S1544;D7S1807;D7S1823;D7S1920;D7S1953;D7S2106E;D7S2141E;D7S2303;D7S2447;D7S2546;D7S2689;D7S2802;D7S2812;D7S637;D7S755;D7S774;DXYS116Y;FB16B4;G09452;G15940;G15992;G17192;G31776;GDB:1317534;GDB:1317556;GDB:1318120;GDB:1318366;GDB:1318372;GDB:4584977;GDB:4585231;GDB:4585477;GDB:4585573;GDB:4585663;NIB1085;RH11433;RH118819;RH12730;RH26271;RH35843;RH48507;RH92198;SHGC-106057;SHGC-111675;SHGC-111688;SHGC-112024;SHGC-112091;SHGC-142328;SHGC-146060;SHGC-146393;SHGC-147175;SHGC-148281;SHGC-149634;SHGC-151014;SHGC-151035;SHGC-30940;SHGC-77889;SHGC-83608;WI-7260 DPP VI;DPPX;FLJ55680;MGC46605;VF2 OTTHUMP00000200130;OTTHUMP00000200132;OTTHUMP00000211904;OTTHUMP00000211905;dipeptidyl aminopeptidase IV-related protein;dipeptidyl aminopeptidase-like protein 6;dipeptidyl aminopeptidase-related protein;dipeptidyl peptidase 6;dipeptidyl peptidase IV-like protein;dipeptidyl peptidase IV-related protein;dipeptidyl peptidase VI;dipeptidylpeptidase 6;dipeptidylpeptidase VI APPROVED protein-coding ENSG00000130226 HGNC:3010 00525 126141;612956 REVIEWED 7175176 DPPA2P4 developmental pluripotency associated 2 pseudogene 4 16 16 16 q13 41218122 41219577 + 56720749 56722210 + 56686837 56688298 + 100131777 ABBA01025250;AC026461;AC106779;AMYH02032091;NG_012309 pseudo HGNC:44629 INFERRED 7175915 DPPA2P3 developmental pluripotency associated 2 pseudogene 3 3 3 3 q29 192126813 192127959 - 193710882 193712027 - 193993093 193994238 - 10737800 100128023 ABBA01058282;AC024559;AMYH02008442;BI014197;BI014198;NR_027764 Hs.730112 1335409;1746983 D3S3562;G64903 pseudo HGNC:44628 VALIDATED 1322072 DPP8 dipeptidyl-peptidase 8 This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 15 15 15 q22 42616140 42688179 - 65734805 65810040 - 65442467 65517702 - 6480464;8554872 11012666;12477932;12534281;12662155;14702039;14729942;15039077;15489334;15664838;15866709;16344560;16700509;16704418;17040910;18029348;18275857;19322201;19581630;20043068;20139978;20534982;21711053;21890473;21906983;21963094;22736146;22863883;23519473;23608773;23704821;23891004;24072711 54878 H0YK36;H0YKA2;H0YMV1;H0YN53;H3BNM2;H3BQ40;J3KPT0;Q6V1X1 ABBA01038849;ABBA01038850;ABBA01038851;ABBA01038852;ABBA01038853;AC011846;AC105129;AF176779;AF221634;AF221635;AF221636;AF221637;AK000290;AK027826;AK291057;AK296915;AK302638;AMYH02030628;AMYH02030629;AMYH02030630;AY172659;AY354202;BC030688;BC040203;BI458620;BI462092;CH471082;DA297112;NM_017743;NM_130434;NM_197960;NM_197961;XM_005254500;XM_005254502;XM_005254505;XM_006720586;XM_006720587 AAG29766;AAG29767;AAG29768;AAG29769;AAH30688;AAO17261;AAQ13657;AAQ63887;ABM82659;ABM85836;BAA91059;BAB55395;BAF83746;BAG59470;BAG63880;EAW77726;EAW77727;EAW77728;EAW77729;EAW77730;EAW77731;EAW77732;EAW77733;EAW77734;NP_060213;NP_569118;NP_932064;NP_932065;Q6V1X1;XP_005254557;XP_005254559;XP_005254562;XP_006720649;XP_006720650 Hs.591106 1678595;1767990;2109247 DPP8_9839;RH48404;RH92998 DP8;DPP VIII;DPRP-1;DPRP1;FLJ14920;FLJ20283;MGC26191;MSTP141 OTTHUMP00000164197;OTTHUMP00000164198;OTTHUMP00000164199;OTTHUMP00000164200;dipeptidyl peptidase 8;dipeptidyl peptidase IV-related protein 1;dipeptidyl peptidase IV-related protein-1;dipeptidyl peptidase VIII;dipeptidylpeptidase 8;prolyl dipeptidase DPP8 APPROVED protein-coding ENSG00000074603 HGNC:16490 07076 606819 REVIEWED 2974663 DPPA2P1 developmental pluripotency associated 2 pseudogene 1 X Y Y 2325476 2326040 + 15342765 15343329 + 13230884 13231448 + 100421137 ABBA01065555;AC005820;AC244214;NG_021938 pseudo HGNC:38448 INFERRED 1350502 DPP9 dipeptidyl-peptidase 9 This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 4611917 4660519 - 4675239 4723855 - 4675226 4723843 - 6480464 12459266;12477932;12534281;12662155;14702039;15245913;15489334;15866709;16344560;16475979;16700509;16704418;18029348;18940951;19268648;19581630;19667070;19850743;20043068;20534982;21622624;21711053;21906983;21963094;22001206;22505724;22736146;22863883;23152501;23519473;23583980;23608773;23704821;23891004;24072711;24654937;25027693 91039 M0QXA6;M0QXG6;M0QXI5;M0QXN4;M0QZ97;M0R0I1;M0R145;M0R162;M0R1L4;M0R2A8;M0R2G6;M0R334;M0R3C4;M0R3E8;Q86TI2 ABBA01056049;ABBA01056050;AC005594;AC005783;AF452102;AF542510;AK054656;AK075030;AK122645;AK122654;AK131100;AK131499;AL834376;AMYH02035298;AY172660;AY374518;BC000970;BC017008;BC037948;BF203783;CB960096;CH471139;CR627380;DB105598;DQ417928;HI574198;NM_139159;XM_005259673;XM_005259674;XR_430158 AAC33801;AAC62840;AAH00970;AAH37948;AAL47179;AAO17262;AAO73880;AAQ83119;ABD83624;ABM83251;ABM86453;BAB70784;BAC11362;BAC85150;BAD18643;BAG53644;CAD39039;CAH10477;CBX47588;EAW69199;EAW69200;EAW69201;NP_631898;Q86TI2;XP_005259730;XP_005259731 Hs.515081 1685425;1690790;1697416;5015619;5037552 D11S3114;D8S2279;RH102208;RH79756;RH80602 DKFZp762F117;DP9;DPLP9;DPP IX;DPRP-2;DPRP2;FLJ16073 dipeptidyl peptidase 9;dipeptidyl peptidase IV-related protein 2;dipeptidyl peptidase IV-related protein-2;dipeptidyl peptidase IX;dipeptidyl peptidase-like protein 9;dipeptidylpeptidase 9 APPROVED protein-coding ENSG00000142002 HGNC:18648 07001 608258 REVIEWED 7204624 DPPA4P1 developmental pluripotency associated 4 pseudogene 1 3 3 3 66322539 66323073 + 66376673 66377207 + 66326249 66326783 + 100421156 ABBA01030864;AC092034;AMYH02006983;NG_025704 pseudo HGNC:44903 INFERRED 5013924 DPPA3P1 developmental pluripotency associated 3 pseudogene 1 X X X q22.2 103651655 103652696 - 103215901 103216942 - 103961328 103962369 - 728493 ABBA01032849;AC234782;AC253567;NG_007153;Z70227 pseudo HGNC:32345 INFERRED 1344123 DPPA5 developmental pluripotency associated 5 This gene encodes a protein that may function in the control of cell pluripotency and early embryogenesis. Expression of this gene is a specific marker for pluripotent stem cells. Pseudogenes of this gene are located on the short arm of chromosome 10 and the long arm of chromosomes 14 and 19. [provided by RefSeq, Dec 2010] 6 6 6 q13 74457324 74458490 - 74062785 74063999 - 73353062 73354276 - 6480464 12477932;15790765;16081659;16166252;16479162;17913455;17967063;19129511;19221495;20146561 340168 A6NC42 AA872428;ABBA01040314;AC019205;AI365263;AMYH02013907;BC137549;BC137558;BX092581;CH471051;NM_001025290 A6NC42;AAI37550;AAI37559;EAW48774;EAW48775;NP_001020461 Hs.125331 1697746;1809106;1809650;1811836;1923326;1923328;1923330;1923332;1923334;1923336;1923338;1923340;1923342;1923344;1923346;1923348;1923350;1923352;2207210;2207212 ECD05541;ECD05817;ECD06922;REN32487;REN32488;REN32489;REN32490;REN32491;REN32492;REN32493;REN32494;REN32495;REN32496;REN32497;REN32498;REN32499;REN32500;RH102396;stSG625833;stSG625834 Esg1 OTTHUMP00000016732;developmental pluripotency-associated 5 protein;embryonal stem cell specific gene 1 APPROVED protein-coding ENSG00000203909 HGNC:19201 18786 611111 REVIEWED 6482899 DPPA3P2 developmental pluripotency associated 3 pseudogene 2 14 14 14 q13.3 16704209 16705242 + 36840541 36841574 + 36371336 36372369 + 12477932;14990856 400206 ABBA01061523;AL137226;AMYH02029025;AY230136;BC062480;BC125145;NG_023379 AAH62480;AAI25146;AAO39708 Hs.528118 STELLAR pseudo HGNC:20417 VALIDATED 8661991 DPP9-AS1 DPP9 antisense RNA 1 19 19 19 p13.3 4615968 4622636 + 4679294 4685960 + 4679282 4685948 + 100131094 Q6ZTZ0 ABBA01056050;AC005594;AK126095;AMYH02035298;HG510274;NM_001242901 BAC86437;NP_001229830 Hs.678135 uncharacterized protein LOC100131094 protein-coding HGNC:50706 VALIDATED 1604883 DPRX divergent-paired related homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DPRX homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 51176624 51181576 + 54135310 54140263 + 53632056 53637009 + 6480464 17005330 503834 A6NFQ7 ABBA01068204;AC011487;AMYH02036429;NM_001012728 A6NFQ7;NP_001012746 Hs.579941 OTTHUMP00000244156;divergent paired-related homeobox APPROVED protein-coding ENSG00000204595 HGNC:32166 10561 611165 VALIDATED 8158258 DPPA5P4 developmental pluripotency associated 5 pseudogene 4 14 14 14 q24.3 55796888 55799095 - 75758711 75759052 - 75292008 75292349 - 646701 ABBA01030703;AF111167;AMYH02029536;NG_027999 AAC98314 pseudo HGNC:49665 INFERRED 1343152 DPPA4 developmental pluripotency associated 4 INVOLVED IN lung-associated mesenchyme development (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; methylmercury chloride; valproic acid 3 3 3 q13.13 107443668 107455094 - 109044988 109056419 - 109326141 109337572 - 6480464;8554872 12477932;12620990;14702039;15489334;16169070;16189514;18366076;19913121;20628086;21348951;21900206;23275563;23761726;23963736;8889549 55211 C9J7A7;F8WDC6;Q7L190 AA223751;AA224162;ABBA01061692;AC076971;AK001575;AK022698;AK022821;AK290992;AK298623;AK299290;AMYH02007409;AMYH02007410;AMYH02007411;BC032846;CH471052;NM_018189 AAH32846;ABM82151;ABM85336;BAA91765;BAB14188;BAF83681;BAH12831;BAH12993;EAW79708;NP_060659;Q7L190 Hs.317659 1679559;5014051;5015404;5016478;5020740;5021228;5022200;5022425;5022651;5024413;5024756;5037552 D11S2921;D22S296;D8S2278;D8S2279;GDB:312794;GDB:434012;L17705;L17809;L17877;L18426;RH80030;RH80393 2410091M23Rik;FLJ10713 OTTHUMP00000214383;developmental pluripotency-associated protein 4 protein-coding ENSG00000121570 HGNC:19200 16836 614125 VALIDATED 7176781 DPPA5P3 developmental pluripotency associated 5 pseudogene 3 10 10 p15 6371096 6371439 - 6329134 6329477 - 100528006 ABBA01034765;AL137145;AMYH02022060;NG_028003 pseudo HGNC:44688 INFERRED 1605458 DPRXP2 divergent-paired related homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] 6 6 6 p21.31 37511829 37512827 - 35957267 35958269 - 35989490 35990492 - 503643 ABBA01038247;AL133507;AMYH02013548;AMYH02013549;NG_004848;NG_033897 APPROVED pseudo HGNC:32168 INFERRED 1605457 DPRXP3 divergent-paired related homeobox pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] 14 14 14 q13.2 15555158 15555796 + 35691333 35691971 + 35222127 35222765 + 503644 ABBA01061499;AL121594;AMYH02029005;NG_004849 APPROVED pseudo HGNC:32169 INFERRED 1605459 DPRXP1 divergent-paired related homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] 2 2 2 q32.1 180949084 180949699 - 187353283 187353896 - 186488556 186489169 - 503641 ABBA01062338;AC018867;AMYH02005405;NG_004847 APPROVED pseudo HGNC:32167 INFERRED 6769800 DPPA5P2 developmental pluripotency associated 5 pseudogene 2 15 15 45858972 45859241 + 45566774 45567043 + 17913455 100874380 ABBA01039176;AC090527;AMYH02030359;NG_032564 pseudo HGNC:43754 INFERRED 1605456 DPRXP5 divergent-paired related homeobox pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] 21 21 21 q22.13 23513841 23514935 + 38315460 38316554 + 36943160 36944254 + 503646 ABBA01057405;AMYH02037790;AP000703;AP000704;AP001727;NG_004850;NG_016193 APPROVED pseudo HGNC:32171 INFERRED 1605454 DPRXP7 divergent-paired related homeobox pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] X X X q23 112047727 112048380 - 111563096 111563749 - 112319868 112320521 - 503648 ABBA01043191;AL031176;AMYH02040242;NG_004852 APPROVED pseudo HGNC:32173 INFERRED 1605455 DPRXP6 divergent-paired related homeobox pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] X X X p11.4 44757211 44757869 + 40617684 40618342 + 40758431 40759089 + 503647 ABBA01046780;AC092474;AMYH02039195;NG_004851 APPROVED pseudo HGNC:32172 INFERRED 5688626 DPPA5P1 developmental pluripotency associated 5 pseudogene 1 19 19 19 q13.41 49979185 49984635 - 52929002 52929474 - 52425749 52426221 - 17913455 646382 ABBA01068255;AC010332;AMYH02036401;NG_028001 pseudo HGNC:43752 INFERRED 1352490 DPPA3 developmental pluripotency associated 3 This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 9442212 9448285 + 7864089 7870155 + 7711493 7717559 + 6480464 11900980;14654002;14684992;14990856;15018652;15489334;16291741;17143267;23457636 359787 Q6W0C5 ABBA01012208;AC006517;AMYH02025971;AY317075;CH471116;NM_199286 AAI60067;AAQ84110;EAW88657;EAW88658;NP_954980;Q6W0C5 Hs.131358 1782610 SHGC-143913 OTTHUMP00000238776;STELLA;developmental pluripotency-associated protein 3;stella-related protein APPROVED protein-coding ENSG00000187569 HGNC:19199 16331 608408 REVIEWED 1602199 DPY19L1P1 DPY19L1 pseudogene 1 INTERACTS WITH all-trans-retinoic acid; valproic acid 7 7 7 p14.3 32645296 32748581 - 32620551 32758780 - 32580939 32719168 - 6480464 100129460 ABBA01056843;ABBA01056844;ABBA01056845;ABBA01056846;ABBA01056847;ABBA01056848;ABBA01056849;AC018633;AC018645;AK026768;AMYH02015479;AMYH02015480;AMYH02015481;AMYH02015482;AMYH02015483;AMYH02015484;AMYH02015485;NR_036680 Hs.633705 1652026;1679427;1705578;1709848;1776992;1851476;1854518;2117934;2135626;2180588;5016781 G17185;G17189;GDB:1317348;GDB:1317456;GDB:3750003;RH92272;SHGC-67307;SHGC-83897;SHGC-84747;Tal1732;WI-15557 FLJ23115 APPROVED pseudo HGNC:22395 VALIDATED 1602789 DPY19L2P1 DPY19L2 pseudogene 1 ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin 7 7 7 p14.2 35114182 35132073 - 35120899 35225774 - 35081287 35186162 - 12477932;21832049 554236 Q6NXN4 ABBA01056887;AC004800;AC005400;AC005826;AC006379;AK304236;AMYH02015510;AMYH02015511;BC013598;BC066987;BX647611;BX648666;NR_002833 BAG65105;Q6NXN4 Hs.594815 APPROVED pseudo HGNC:22305 PROVISIONAL 1604946 DPY19L2P2 DPY19L2 pseudogene 2 ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; trichostatin A; valproic acid 7 7 7 q22.1 97622689 97728136 - 102815460 102920913 - 103175013 103280466 - 6480464 12477932;14702039;16344560;16526957 349152 Q6ZN68 ABBA01057991;ABBA01057992;ABBA01057993;ABBA01057994;AC004668;AC007683;AK093485;AK097711;AK131353;AK302046;AL049437;AL834175;AMYH02016449;BC023575;BC033022;BC045595;BC068601;BC094802;BC150309;BX648212;CH471070;DB094748;N40211;NR_003561;NR_027768 BAC04183;BAC05147;BAD18507;BAG63438;CAD38872;EAW83317;EAW83323;EAW83324 Hs.732579 2128460;2134574;5109291;5124029 D1S1459;D7S2704;GDB:3778167;RH40732 DKFZp434E092;DKFZp586E1120;DKFZp779M0267;FLJ36166 APPROVED pseudo ENSG00000170629 HGNC:21764 08772 VALIDATED 1602608 DPRXP4 divergent-paired related homeobox pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 26223276 26223945 + 29302353 29303022 + 30975335 30976004 + 19291764 503645 ABBA01014977;AC138207;AMYH02033288;BQ448328;NG_011701;NR_002221 Hs.683578 APPROVED pseudo HGNC:32170 VALIDATED 1625100 DPY19L2P4 DPY19L2 pseudogene 4 INTERACTS WITH iron atom; iron(0); silicon dioxide 7 7 7 q21.13 84452985 84459173 + 89748714 89754914 + 90119400 90125600 + 6480464 12477932;16526957;21832049 442523 Q8N794 ABBA01045842;AC004969;AK098759;AMYH02016238;BC031277;BC047471;BX537815;CH236949;DQ287934;NR_003551 BAC05405 Hs.406964 1678623;5115120 RH98411;SHGC-33647 DKFZp686L2199;FLJ25893;MGC39769;MGC48509 APPROVED pseudo ENSG00000235436 HGNC:22176 PROVISIONAL 1605477 DPY19L2P3 DPY19L2 pseudogene 3 7 7 7 p15.1 29714271 29771472 + 29724770 29727859 + 29685154 29688243 + 12477932 442524 ABBA01056801;AC007276;AMYH02015446;BC036244;DQ287933;NR_036482 Hs.652669;Hs.742012 1700914;2117934 G17189;RH104084 APPROVED pseudo ENSG00000227855 HGNC:22367 VALIDATED 1604230 DPY19L3 dpy-19-like 3 (C. elegans) ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH formaldehyde; hydralazine; paracetamol 19 19 19 q13.11 29590304 29670441 + 32896655 32976799 + 32405749 32485893 + 6480464 12477932;16344560;19488044;22190034 147991 K7ELB5;K7ELG1;K7ELH8;Q6ZPD9;Q8N6Q4;S4R3D3 ABBA01039593;AC005382;AC005621;AC007773;AF533710;AF533711;AK024775;AK125846;AK126264;AK126757;AK129497;AL833713;AMYH02035918;BC029162;BC131725;BU625938;CR749459;DA852420;DR005952;NM_001172774;NM_207325;XM_005258561;XM_006723045;XR_243904 AAH29162;AAI31726;AAQ09023;AAQ09024;BAC85166;BAC86508;BAC86676;CAH18293;NP_001166245;NP_997208;Q6ZPD9;XP_005258618;XP_006723108 Hs.194392 1660392;1857000;2156801;2165653;5020635;5093612;5117897 A009S36;D19S1097;D7S3207;G32821;GDB:631813;SHGC-60190;WI-17585 DKFZp686J17135;MGC35440 dpy-19-like protein 3;probable C-mannosyltransferase DPY19L3;protein dpy-19 homolog 3 protein-coding ENSG00000178904 HGNC:27120 14078 613894 VALIDATED 1603291 DPY30 dpy-30 homolog (C. elegans) DPY30 is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008] 2 2 2 p22.3 32093842 32109716 - 32245856 32264890 - 32023422 32039822 - 6480464;9479053 22663077 12477932;15489334;16159877;16189514;16260194;16730941;17500065;17620012;17620599;18029348;18838538;19047629;19481096;19556245;19615732;19651892;19759913;20305087;20668708;20857310;21139048;21906983;22231628;22939629;23275444;23872946;24182552;24250222;24583282;24690193;24722188;24816145 84661 B4DIS3;Q9C005 ABBA01074865;ABBA01202213;AF226998;AL121655;AMYH02003537;AMYH02003538;AX354367;AX972433;BC015970;BI752326;CD704815;CH471053;NM_032574;XM_005264612;XM_006712117;XM_006712118;XM_006712119 AAH15970;AAK00640;CAD22967;CAF17541;EAX00463;EAX00464;EAX00465;EAX00466;NP_115963;Q9C005;XP_005264669;XP_006712180;XP_006712181;XP_006712182 Hs.531788 1851757;2118797 D2S2830;RH36577 Cps25;HDPY-30;Saf19 OTTHUMP00000158573;OTTHUMP00000201128;OTTHUMP00000201132;OTTHUMP00000201133;dpy-30-like protein;dpy-30L;protein dpy-30 homolog APPROVED protein-coding ENSG00000162961 HGNC:24590 17434 612032 VALIDATED 1316210 DPT dermatopontin Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. [provided by RefSeq, Jul 2008] 1 1 1 q12-q23 141774485 141808228 - 168664695 168698442 - 168695457 168729204 - 1580863;6480464 10233760;11810028;12477932;15342556;15489334;16169070;16710414;17547532;17903295;19064610;19536175;19916908;21398523;21796630;23877568;8082810;8104875;9895299 1805 Q07507 ABBA01047231;AF086330;AI699890;AL049455;AL049798;AMYH02002109;BC033736;BP257325;CH471067;KF455059;NM_001937;Z22865 AAH33736;ABM82981;ABM86175;CAA80487;EAW90830;NP_001928;Q07507 Hs.80552 1670223;1680934;1699292;1773097;2126560 AL009391;RH103231;RH36563;RH92745;SHGC-75872 TRAMP OTTHUMP00000032500;tyrosine-rich acidic matrix protein APPROVED protein-coding ENSG00000143196 HGNC:3011 00510 125597 VALIDATED 1606660 DPY19L4 dpy-19-like 4 (C. elegans) ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; lead(0); lead(2+) 8 8 8 q22.1 91917718 91991289 + 95732103 95806076 + 94719875 94793848 + 6480464 11076863;11230166;12477932;15489336;16381901;17567985;19322201;21145461;21906983;21963094 286148 E5RGB7;E5RGH1;H0YAT0;H0YBI1;H0YBK6;H0YBL6;H0YBV9;Q7Z388 ABBA01037461;ABBA01037462;ABBA01037463;ABBA01037464;ABBA01037465;ABBA01037466;AF086017;AK123618;AK123682;AL049962;AL832859;AMYH02018434;AMYH02018435;AMYH02018436;AP003692;AP005660;BC038568;BC050303;BC110870;BC126193;BC130576;BP873374;BX538048;BX538174;CH471060;NM_181787;XM_005250894;XM_005250895;XM_005250896 AAI10871;AAI26194;AAI30577;BAC85664;BAC85675;CAD97987;CAD98049;CAL38586;EAW91722;EAW91723;EAW91724;EAW91725;NP_861452;Q7Z388;XP_005250951;XP_005250952;XP_005250953 Hs.567828 1680994;1688396;1689418;1690169;1705898;5015619;5037552;5117897 D11S3114;D8S2279;GDB:631813;RH91269;RH92780;RH93346;RH98467;SHGC-81215 MGC131885 OTTHUMP00000227016;dpy-19-like protein 4;probable C-mannosyltransferase DPY19L4;protein dpy-19 homolog 4 protein-coding ENSG00000156162 HGNC:27829 11259 613895 VALIDATED 6481402 DPYD-AS2 DPYD antisense RNA 2 1 p21.3 97796921 97798051 + 100873933 ABBA01045475;AC114878;AMYH02001539;BU569038;HG492304;HG492305;NR_046591 Hs.568669 RP11-272L13.1 APPROVED ncrna ENSG00000235777 HGNC:40196 VALIDATED 6481099 DPYD-IT1 DPYD intronic transcript 1 (non-protein coding) p21.3 100874267 AC093576;AW090582 ncrna HGNC:41326 1606928 DPY19L2 dpy-19-like 2 (C. elegans) The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011] 12 12 12 q14.2 63620809 63730544 - 63952693 64062354 - 63558913 63669201 - 6480464;8699517;8554872;7240710 12477932;12975309;14702039;16526957;21397064;22627659;22653751;23512994;23555282;24250222 283417 F5H0W1;F5H1L7;F5H4G6;F5H5T7;H0YF77;Q6NUT2 ABBA01026623;AC027667;AK057511;AK303727;AK310102;AL833344;AMYH02026647;AMYH02026648;AY358792;BC031225;BC068442;BC125215;BC125216;CH471054;DB514316;NG_031909;NM_173812;XM_006719348;XM_006719349;XM_006719350;XM_006719351;XM_006719352;XM_006719353;XM_006719354;XM_006719355;XM_006719356;XR_429091;XR_429092 AAH31225;AAH68442;AAI25216;AAI25217;AAQ89152;BAB71515;BAG64703;EAW97117;EAW97118;NP_776173;Q6NUT2;XP_006719411;XP_006719412;XP_006719413;XP_006719414;XP_006719415;XP_006719416;XP_006719417;XP_006719418;XP_006719419 Hs.533644 1678623;2128460 D7S2704;RH98411 FLJ32949;FLJ36166;SPATA34;SPGF9 OTTHUMP00000239234;dpy-19-like protein 2;probable C-mannosyltransferase DPY19L2;protein dpy-19 homolog 2;spermatogenesis associated 34 APPROVED protein-coding ENSG00000177990 HGNC:19414 08151 613893;613958 REVIEWED 1603693 DPY19L1 dpy-19-like 1 (C. elegans) ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; bilirubin 7 7 7 p14.3-p14.2 34950233 35064182 - 34968491 35077653 - 34928881 35038041 - 6480464 10048485;11181995;12477932;19946888;21139048;21890473;22190034;24250222 23333 H7C1I8;H7C3M5;Q2PZI1 AB020684;ABBA01056885;ABBA01056886;ABBA01056887;AC004711;AC004712;AC005271;AC005401;AC010085;AJ011911;AMYH02015507;AMYH02015508;AMYH02015509;AMYH02015510;BC029591;BC050318;BC064476;CH471073;DQ287932;KF458432;NM_015283 AAH29591;ABB89208;BAA74900;EAW94038;EAW94039;NP_056098;Q2PZI1 Hs.408623 1652026;1674015;1705578;1786258;1787716;1850595;1851476;2114274;2135626;2149188;2149344;2168470;2180588;2182601;2187560;5092706 A005R13;A006U12;D7S3022;G16026;G16028;G17185;G32277;GDB:1317348;GDB:1317456;Mar1732;Rhes1732;SHGC-144361;SHGC-173013;SHGC-83897;STS-R06613;Tal1732 KIAA0877 DPY-19-like protein 1;OTTHUMP00000206875;probable C-mannosyltransferase DPY19L1;protein dpy-19 homolog 1 protein-coding ENSG00000173852 HGNC:22205 613892 VALIDATED 731730 DPYD dihydropyrimidine dehydrogenase The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 1 1 1 p22 95797301 96640303 - 97543299 98386615 - 97077743 97921059 - 1580863;1624989;1599789;1300048;2317629;2317630;2317631;6480464;6907045;7240710;8554872;8699517 10348793;16619549;18309485;20072795;7626590 10410956;10606257;10923099;11072080;11267945;11555601;11862480;11895907;11988088;11992400;12025228;12047484;12209976;12360106;12477932;12576451;12822071;12844478;12851836;14519634;14562021;14654904;14702180;15017333;15025795;15069545;15102667;1512248;15132136;15254700;15316940;1544906;15709212;15939134;15993511;15999119;16021908;16132996;16328315;16344560;16361556;16771603;16786143;16806531;16820886;16969493;17000685;17046731;17121937;17165084;17203168;17335544;17375478;17377791;17397246;17417073;17445431;17582309;17582310;17612628;17699798;17828463;17848752;17876700;17905396;18004243;18075467;18225548;18299612;18347391;18443386;18452418;18537153;18619742;18705276;18937829;1901022;19020767;19104657;19154585;19178088;19288105;19295264;19296131;19343046;19473056;19530960;19546880;19571608;19636001;19724871;19795123;19822137;19858398;19898482;19956635;20037211;20157331;20379614;20385995;20407238;20453000;20507294;20530282;20544545;20570913;20647221;20647710;20653680;20665215;20714149;20714877;20803296;20809970;20819423;20837458;21057378;21111509;21114665;21498394;21507922;21612699;21822266;21919605;21963094;21965773;21987572;22003227;22006578;22143355;22199347;22270332;22306127;22339448;22490566;22505724;22510597;22593457;22641663;22688191;22939629;2319593;23313143;23401991;23453885;23588312;23597150;23603345;23736036;23781135;23930673;23942539;23960437;23974872;24104963;24455740;24590654;24648345;24722188;24800948;2528450;3335642;7713523;8083224;8221682;8892022;9135003;9170156;9266349;9348115;9439663;9464498 1806 B4DML1;Q12882 AB003063;ABBA01045471;ABBA01045472;ABBA01045473;ABBA01045474;ABBA01045475;ABBA01045476;ABBA01045477;AC091608;AC093576;AC099787;AC114878;AC138135;AI124948;AK291217;AK297515;AL356457;AL645494;AMYH02001532;AMYH02001533;AMYH02001534;AMYH02001535;AMYH02001536;AMYH02001537;AMYH02001538;AMYH02001539;BC008379;BC064027;BC108742;BC131777;BC131778;BT006740;BX908805;CH471097;DA721123;KF454986;KF454987;KF495726;NG_008807;NM_000110;NM_001160301;U09178;U20938;U57655;X95670;XM_005270562;XM_006710397 AAA57474;AAB07049;AAB51366;AAH08379;AAH64027;AAI08743;AAI31778;AAI31779;AAP35386;BAA89789;BAF83906;BAG59923;CAA64973;EAW73002;EAW73003;NP_000101;NP_001153773;Q12882;XP_005270619;XP_006710460 Hs.335034 1658978;1665767;1666680;1669651;1688624;1692066;1692578;1692986;1696264;1700670;1705190;1706430;1710938;1716373;1721863;1751385;1753599;1754081;1852619;1856106;2136540;2157970;2166358;2182939;5019873 AL009678;AL009912;AL009925;AL009994;AL034016;AL034057;AL034211;G30582;G34876;G54618;G59961;RH103958;RH121366;RH17430;RH66034;RH80889;SHGC-105236;SHGC-107533;SHGC-12941;SHGC-132118;SHGC-75193;SHGC-80046;SHGC-80794;SHGC-83640;SHGC-84442 DHP;DPD;MGC132008;MGC70799 DHPDHASE;OTTHUMP00000037640;OTTHUMP00000037641;dihydropyrimidine dehydrogenase [NADP(+)];dihydropyrimidine dehydrogenase [NADP+];dihydrothymine dehydrogenase;dihydrouracil dehydrogenase APPROVED protein-coding ENSG00000188641 HGNC:3012 02036 274270;612779 REVIEWED 737388 DPYSL2 dihydropyrimidinase-like 2 This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 8 8 8 p22-p21 25397861 25478105 + 26371709 26515693 + 26514193 26658177 + 1580863;2303056;2316241;2316251;6480464 11694350;17402852;19524114 10574455;10757975;10770920;10818093;10956643;11121447;11741937;11771764;12134159;12477932;12482610;12679234;12942088;12951196;14702039;15027329;15207709;15342556;15489334;15652488;15672539;15858820;16260607;16321170;16344560;16380905;16611631;16964243;17043677;17105906;17229153;17500595;17683481;18029348;18203259;18218617;18460467;18583979;19110265;19151921;19235893;19322201;19328558;19405953;19519308;19659462;19666111;20379614;20381070;20414250;20801876;21139048;21271304;21302347;21319273;21521879;21565611;21642979;21694731;21832084;21860090;21890473;21900206;21988832;22227566;22279220;22431514;22443207;22586326;22863883;22954668;23000965;23023514;23166591;23185275;23836888;23846846;24036111;24133216;24250222;24722188;24816145;7637782;8125298;8640231;8973361 1808 E5RFU4;Q16555;Q59GB4 AB020777;AB209195;AB370194;AB370195;ABBA01005572;ABBA01005573;ABBA01005574;AC015564;AC015743;AK092377;AK223557;AK291287;AK299077;AMYH02017665;BC056408;BC067109;BP222303;BX461557;BX463316;BX647115;CH471080;D78013;DA649686;DC333865;DC344356;FB582075;FB723034;NG_030020;NM_001197293;NM_001244604;NM_001386;U17279;X91250 AAA93202;AAH56408;AAH67109;BAA11191;BAA86991;BAC03872;BAD92432;BAD97277;BAF83976;BAF94338;BAF94339;BAG61143;CAR95650;CAT03389;EAW63573;EAW63574;NP_001184222;NP_001231533;NP_001377;Q16555 Hs.593187 1647882;1651858;1703346;1703776;1725597;2120128;2153467;2185006;2186056 2092;A002O30;D8S1383E;D8S1589;G62088;RH45542;SHGC-68590;SHGC-83221;STS-N39248 CRMP-2;CRMP2;DHPRP2;DRP-2;DRP2;N2A3;ULIP-2;ULIP2 OTTHUMP00000125291;OTTHUMP00000225221;OTTHUMP00000225222;OTTHUMP00000225223;collapsin response mediator protein 2;collapsin response mediator protein hCRMP-2;dihydropyrimidinase-like 2 long form;dihydropyrimidinase-related protein 2;unc-33-like phosphoprotein 2 APPROVED protein-coding ENSG00000092964 HGNC:3014 03914 602463 REVIEWED 1605066 DRAM1 DNA-damage regulated autophagy modulator 1 This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008] 12 12 12 q23.2 101935130 101981421 + 102271105 102317401 + 101877327 101923623 + 6480464 12477932;14702039;16344560;16839873;16839881;17102582;17207965;17397945;19556885;19706754;19895784;21386980;21832049;22082963;22525272;22981223;23273568;23337876;23658518;23696801;23832602;24133622 55332 B7Z4T0;H0YHJ0;H0YHV0;Q8N682 ABBA01053233;ABBA01053234;ABBA01053235;AC063950;AC084398;AI079438;AK002121;AK094923;AK297785;AMYH02027076;AMYH02027077;BC013773;BC018435;CH471054;DA721965;NM_018370;XM_005269004;XM_005269005 AAH13773;AAH18435;ADQ31610;BAA92091;BAG52956;BAH12666;EAW97685;EAW97686;NP_060840;Q8N682;XP_005269061;XP_005269062 Hs.525634 1657772;1746337;2115663 G64541;RH47280;SHGC-57247 DRAM;FLJ11259 DNA damage-regulated autophagy modulator protein 1;OTTHUMP00000243828;damage-regulated autophagy modulator APPROVED protein-coding ENSG00000136048 HGNC:25645 07743 610776 REVIEWED 737533 DPYSL4 dihydropyrimidinase-like 4 ENCODES a protein that exhibits hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (inferred); hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (inferred); INVOLVED IN axon guidance (inferred); metabolic process (inferred); nervous system development (inferred); FOUND IN cytosol (inferred); INTERACTS WITH 2-methylcholine; 7,12-dimethyltetraphene; actinomycin D 10 10 10 q26 127645533 127664406 + 133998564 134019280 + 132185060 132205776 + 1580863;6480464 10594648;10851247;10956643;11771764;12134159;12477932;15164054;16169070;20499313;21139048;21900206;21906983;8973361;9652388 10570 D3DRG7;O14531;Q5T0Q6 AB006713;ABBA01006177;ABBA01006178;AL512622;AMYH02024067;BC029280;BC136329;BC136330;BC142974;CH471066;NM_006426;XM_005252658;XM_005252659;XM_006717547;Y10976 AAI36330;AAI36331;BAA21886;CAA71872;EAW49131;EAW49132;EAW49133;EAW49134;EAW49135;EAW49136;EAW49137;EAW49138;NP_006417;O14531;XP_005252715;XP_005252716;XP_006717610 Hs.100058 CRMP-3;CRMP3;DRP-4;ULIP-4;ULIP4 OTTHUMP00000020757;OTTHUMP00000020758;UNC33-like phosphoprotein 4;collapsin response mediator protein 3;dihydropyrimidinase-related protein 4 protein-coding ENSG00000151640 HGNC:3016 07463 608407 VALIDATED 1313088 DR1 down-regulator of transcription 1, TBP-binding (negative cofactor 2) This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq, Jul 2008] 1 1 1 p22.1 92065544 92082224 + 93811478 93828149 + 93345921 93362592 + 1580863;6480464 11461703;12477932;12927788;1339312;14702039;15489334;15574413;15893730;16189514;16710414;17584739;18538002;18838386;19204005;19322201;19965767;20230619;20534741;20936779;21139048;22833565;22863883;22939629;23000965;24816145;8125298;8608938;8670811;8764062;8836190;8884286;8972183;9040789 1810 Q01658;Q658N3 ABBA01045526;AK057541;AK223442;AK311288;AL137159;AL833729;AMYH02001499;BC002809;BC035507;BC068553;BT006972;CH471097;M97388;NM_001938 AAA58442;AAH02809;AAH35507;AAH68553;AAP35618;BAD97162;BAG51931;CAH56250;EAW73072;EAW73073;EAW73074;EAW73075;EAW73076;NP_001929;Q01658 Hs.348418 1690560;1704238;1774272;2218508;5096324 D1S3361;DR1_4193;RH79801;SHGC-56991;SHGC-83240 NC2;NC2-BETA OTTHUMP00000012556;OTTHUMP00000012557;TATA-binding protein-associated phosphoprotein;negative cofactor 2-beta APPROVED protein-coding HGNC:3017 03284 601482 REVIEWED 68541 DPYS dihydropyrimidinase Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008] 8 8 8 q22 101578319 101665933 - 105391652 105479281 - 104379424 104467053 - 1599001;1624989;1300048;1580863;6480464;6907045;7240710;8554872;8699517 7626590;9718352 10410956;10956643;12477932;15489334;17383919;18075467;18216719;19056867;19649633;20362666;20797317;3931905;8973361 1807 E5RG28;H0YEV7;Q14117 AB004678;ABBA01037648;ABBA01037649;AK311261;AMYH02018551;AP002847;AP003471;BC034395;CH471060;CQ840196;D78011;KC877293;NG_008840;NM_001385;XM_005250818;XM_005250819;XM_006716517;XM_006716518 AAH34395;ADZ15412;BAA11189;BAA33067;CAH05690;EAW91893;NP_001376;Q14117;XP_005250875;XP_005250876;XP_006716580;XP_006716581 Hs.443161 1339959;1340937;1660416;1678903;1688418;1721945;1750725;2110375;2145475 D8S1459;D8S1738;DPYS_8314;G59856;RH12824;RH45444;RH80723;RH80769;SHGC-112121 DHP DHPase;OTTHUMP00000227837;dihydropyrimidine amidohydrolase;hydantoinase APPROVED protein-coding ENSG00000147647 HGNC:3013 01960 222748;613326 REVIEWED 1312375 DQX1 DEAQ box RNA-dependent ATPase 1 ENCODES a protein that exhibits ATP binding (inferred); helicase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 2 2 2 p13.1 74576422 74584516 - 74745258 74753408 - 74518131 74526281 - 6480464;8554872 12477932;14702039;16344560;20467438 165545 C9J0W1;H7BZE3;Q8TE96 AA515987;ABBA01075602;AC005041;AK074337;AK092420;AMYH02004091;BC033238;BC075018;BM987933;CH471053;DA852016;NM_133637 AAH75018;BAB85056;EAW99626;EAW99627;EAW99628;NP_598376;Q8TE96 Hs.191705 1734746;2128786;2141034;2171782 D2S1537E;FB21B7;RH68516;WI-19737 FLJ23757 ATP-dependent RNA helicase DQX1;DEAQ RNA-dependent ATPase DQX1;DEAQ box polypeptide 1 (RNA-dependent ATPase);OTTHUMP00000160425;OTTHUMP00000200308 protein-coding ENSG00000144045 HGNC:20410 13249 VALIDATED 6481403 DPYD-AS1 DPYD antisense RNA 1 ASSOCIATED WITH Dihydropyrimidine Dehydrogenase Deficiency (inferred); Melanoma (inferred) 1 1 97561479 97788511 + 97095923 97322955 + 8554872 100873932 ABBA01045475;ABBA01045476;ABBA01045477;AC091608;AC099787;AMYH02001532;AMYH02001533;AMYH02001534;AMYH02001535;AMYH02001536;BX908805;CF529923;HG492302;KF454986;NG_008807;NR_046590 Hs.682651 RP11-526F14.1 APPROVED ncrna ENSG00000232878 HGNC:40195 VALIDATED 735265 DPYSL3 dihydropyrimidinase-like 3 ENCODES a protein that exhibits chondroitin sulfate binding (ortholog); SH3 domain binding (ortholog); INVOLVED IN actin crosslink formation (ortholog); actin filament bundle assembly (ortholog); cellular response to cytokine stimulus (ortholog); FOUND IN cell body (ortholog); cytosol (ortholog); exocytic vesicle (ortholog); INTERACTS WITH 2-methylcholine; 5-fluorouracil; all-trans-retinoic acid 5 5 5 q32 142852394 142915278 - 146770371 146889619 - 147390808 147510056 - 1580863;6480464 10664068;10748015;10956643;11771764;12134159;12444086;12477932;12745088;15345747;15933812;1602151;16611631;17043677;17081983;18029348;20379614;20543870;20804502;20977846;21044950;21139048;21179545;21319273;22805864;22863883;23000965;23568759;24011394;24816145;25027693;8973361;9115293 1809 D6RF19;H0YB87;H0YBT4;Q14195;Q6DEN2;Q8IXW6 ABBA01026324;ABBA01026325;ABBA01026326;ABBA01026327;AC011373;AF246692;AI570709;AK297223;AMYH02012426;AMYH02012427;BC039006;BC077077;CA424493;CH471062;D78014;EU007906;FB582079;FB723038;NM_001197294;NM_001387;Y07818 AAF76324;AAH39006;AAH77077;ABV80252;ACE86827;ACE86843;ACE87513;ACE87530;BAA11192;BAG59706;CAA69153;CAR95652;CAT03391;EAW61826;NP_001184223;NP_001378;Q14195 Hs.519659 1666343;1678127;1857169;2108037;2110993;2111009;2153807 1558;D5S563E;D5S564E;DPYSL3_8315;RH66349;WI-14610;WI-19514 CRMP-4;CRMP4;DRP-3;DRP3;LCRMP;ULIP;ULIP-1 OTTHUMP00000223926;OTTHUMP00000223927;collapsin response mediator protein 4 long;dihydropyrimidinase-related protein 3;unc-33-like phosphoprotein 1 protein-coding ENSG00000113657 HGNC:3015 03104 601168 VALIDATED 1605526 DRAXIN dorsal inhibitory axon guidance protein INVOLVED IN axon guidance (ortholog); commissural neuron differentiation in spinal cord (ortholog); dorsal spinal cord development (ortholog); FOUND IN extracellular region (ortholog); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; ethyl methanesulfonate 1 1 1 p36.22 10863842 10892408 + 11751781 11780336 + 11691724 11720279 + 6480464 12477932;12975309;14702039;15340161;15489334;16303743;16710414;18347602;19150847;19857465;24832731 374946 Q8NBI3 AB301919;ABBA01003057;AK075558;AK092318;AK311439;AL031731;AL953897;AMYH02000300;AY358750;BC021286;BC111064;BM928129;CH471130;NM_198545 AAI11065;AAQ89110;BAC11697;BAG52531;BAG80561;EAW71700;EAW71701;NP_940947;Q8NBI3 Hs.632364;Hs.733197 1674857;1722329;2191283 AL009489;G60231;MARC_17073-17074:1023811913:3 AGPA3119;C1orf187;FLJ34999;MGC117222;UNQ3119 OTTHUMP00000002262;dorsal repulsive axon guidance protein;neucrin;neural tissue-specific cysteine-rich protein APPROVED protein-coding HGNC:25054 11844 612682 VALIDATED 6892965 DRAXINP1 dorsal inhibitory axon guidance protein pseudogene 1 X X X p22.31 12929212 12930137 - 8751555 8752480 - 8783514 8784439 - 100128801 ABBA01070664;AC003685;AMYH02038820;NG_022580 pseudo HGNC:44334 INFERRED 1605894 DRC1 dynein regulatory complex subunit 1 INVOLVED IN axonemal dynein complex assembly; bacterial-type flagellum-dependent cell motility; cilium-dependent cell motility; ASSOCIATED WITH Atelectasis (inferred); Autosomal recessive inheritance (inferred); Bronchiectasis (inferred); FOUND IN axoneme (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 6-propyl-2-thiouracil (ortholog); methimazole (ortholog) 2 2 2 p23.3 26468325 26523128 + 26624784 26679579 + 26401916 26456711 + 6480464;8699517;7240710;8554872 12477932;14702039;15815621;23319000;23354437 92749 F8WE02;Q96MC2 ABBA01045182;AC010896;AC093378;AK057222;AK289953;AK307094;AL833892;AMYH02003460;AMYH02003461;BC009488;CH471053;KF459613;NM_145038;XM_005264637;XM_005264638 AAY14647;AAY15082;BAB71385;BAF82642;CAD38748;EAX00688;EAX00689;NP_659475;Q96MC2;XP_005264694;XP_005264695 Hs.393714 1665291 D2S2798 C2orf39;CCDC164;CILD21;FLJ32660;MGC16372 CG10958-like;OTTHUMP00000155191;coiled-coil domain containing 164;coiled-coil domain-containing protein 164;dynein regulatory complex protein 1;dynein regulatory complex subunit 1 homolog;hypothetical protein LOC92749 APPROVED protein-coding ENSG00000157856 HGNC:24245 11312 615288;615294 VALIDATED 1604275 DRC7 dynein regulatory complex subunit 7 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); FOUND IN cytoplasm; INTERACTS WITH (+)-catechin; amiodarone; benzo[a]pyrene 16 16 16 q21 42224749 42262676 + 57728713 57765367 + 57694801 57731455 + 6480464 11230166;11256614;12477932;14702039;16344560;21289096;22983010 84229 H3BN79;H3BQY5;H3BRN2;H3BRR8;H3BRX1;H3BUK0;Q8IY82 ABBA01025278;ABBA01025279;ABBA01025280;ABBA01025281;AC018552;AK093035;AK093822;AK292558;AL136907;AMYH02032111;AMYH02032112;BC030661;BC036667;CH471092;DB093780;DB095284;NM_001289162;NM_001289163;NM_032269;XM_006721301 AAH36667;BAC04026;BAF85247;CAB66841;EAW82947;EAW82948;EAW82949;NP_001276091;NP_001276092;NP_115645;Q8IY82;XP_006721364 Hs.513635 1675828;2191111 MARC_14789-14790:1010672522:1;RH98935 C16orf50;CCDC135;CFAP50;DKFZp434I099;FAP50 OTTHUMP00000164678;coiled-coil domain containing 135;coiled-coil domain-containing protein 135;coiled-coil domain-containing protein lobo homolog APPROVED protein-coding ENSG00000159625 HGNC:25289 10902 VALIDATED 733917 DPYSL5 dihydropyrimidinase-like 5 This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 2 2 2 p23.3 26917090 27019556 + 27070969 27173219 + 26848101 26950351 + 632609;632608;1580863;6480464 10851247;11034345 10956643;11220734;11549731;12093729;12134159;12477932;12838519;14702039;15489334;16169070;16344560;18306241;18347453;18769332;18854154;18931014;21139048;21988832;22581228;23251661;23298946;23373749;24324268 56896 E7ESV0;E7EWB4;E9PHT0;Q9BPU6 ABBA01045191;ABBA01045192;AC011740;AC013472;AF157634;AF264015;AJ251275;AK022795;AK127314;AL713706;AMYH02003469;AMYH02003470;AW139156;BC002874;BC128218;BT006871;CH471053;DA410946;FB582081;FB723040;NM_001253723;NM_001253724;NM_020134 AAF80348;AAH02874;AAK16830;AAP35517;AAX93268;AAY14652;ABM81681;CAB95124;CAD28503;CAR95653;CAT03392;EAX00667;EAX00668;NP_001240652;NP_001240653;NP_064519;Q9BPU6 Hs.299315 1734978;1774935;1857958;2150073;2157254;5015619;5022200;5037552 D11S3114;D2S1722E;D8S2279;IB426;L18426;RH12657;T03602;WI-18667 CRAM;CRMP-5;CRMP5;DRP-5;FLJ45383;ULIP-6;Ulip6 CRMP3-associated molecule;OTTHUMP00000122586;OTTHUMP00000200913;UNC33-like phosphoprotein 6;collapsin response mediator protein 5;collapsin response mediator protein-5;dihydropyrimidinase-related protein 5 APPROVED protein-coding ENSG00000157851 HGNC:20637 10522 608383 VALIDATED 1318268 DRAP1 DR1-associated protein 1 (negative cofactor 2 alpha) Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq, Jul 2008] 11 11 11 q13.3 63010652 63012972 + 65686728 65689048 + 65919257 65921577 + 6480464 10852970;11461703;12471260;12477712;12477932;12927788;15489334;15509807;15574413;15893730;16169070;16189514;16484223;16713569;17548813;17994103;18838386;19204005;21139048;21832049;21900206;21906983;22863883;22939629;23602568;24816145;8608938;8670811;8972183;9418848 10589 C9JCC6;E9PMW2;E9PNC7;E9PQX9;Q14919 ABBA01024097;AMYH02024966;AP006287;BC010025;BG036132;BG719065;BQ773919;CH471076;NM_006442;X96506 AAH10025;ABZ92465;CAA65358;EAW74472;NP_006433;Q14919 Hs.356742 1655788;2142411 D11S4689;RH71230 NC2-alpha OTTHUMP00000234061;OTTHUMP00000234062;OTTHUMP00000234063;OTTHUMP00000234065;OTTHUMP00000234066;dr1-associated corepressor;negative co-factor 2-alpha;negative cofactor 2 alpha;negative cofactor 2-alpha APPROVED protein-coding ENSG00000175550 HGNC:3019 03796 602289 REVIEWED 731837 DRD5 dopamine receptor D5 This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 10266117 10268492 + 9783258 9785633 + 9781634 9784009 + 1580887;734899;1600981;1358609;1580863;5686417;5686411;2311591;5686414;5686418;5686412;6480464;5686422;7240710;8554872 10495037;11032390;11781417;12111832;12486173;14699430;15389755;16855100;17182012;17395336;21906006 10391209;10531415;10659839;11024217;11036203;11054773;11140838;11353446;11445276;11459908;11500503;12036966;12047334;12351722;12477932;12509874;12623966;12660802;12700316;12967601;1387108;14509667;14581671;14732464;14755441;1532789;15489334;15635698;15717291;16352863;16380908;16389711;16526040;16774975;17325714;17394052;17427194;17501935;17579368;1774076;18081165;18164132;18172057;18240029;1826762;18270970;1831904;1833775;1834671;18403039;18464932;18563476;18636124;18665883;18855532;19024005;19058789;19086053;19105202;19156168;19171671;19266703;19352218;19397556;19506906;19673036;19682861;19772578;19786093;19874574;20006992;20164562;20180564;20398908;20468060;20468064;20531939;20714340;20734064;20864182;21083670;21115476;21348911;21893192;22203087;22309839;22403020;22710646;23152498;23318175;23445730;7633397;7727453;8288248;9457173;9603210 1816 P21918 ABBA01032505;AC098976;AK313897;AMYH02008742;AY136750;BC009748;CH471069;M67439;NG_012024;NM_000798;U21164;X58454 AAA52329;AAH09748;AAN01276;ABM82859;ABM86046;BAG36620;CAA41360;EAW92679;NP_000789;P21918 Hs.380681 1742195;1743225;1795248;2189135;5125036 DRD5_24;G65183;GDB:193457;GDB:305493;RH69165 D1B;DBDR;DRD1B;DRD1L2;MGC10601 D(1B) dopamine receptor;D1beta dopamine receptor;OTTHUMP00000158603;d(5) dopamine receptor;dopamine D5 receptor;dopamine receptor 5;dopamine receptor D1B APPROVED protein-coding ENSG00000169676 HGNC:3026 00542 126453;143465;606798 REVIEWED 1604537 DRAM2 DNA-damage regulated autophagy modulator 2 INVOLVED IN regulation of autophagy; FOUND IN cytoplasm; Golgi apparatus; intracellular membrane-bounded organelle; INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 1 1 1 p13.3 109906960 109929839 - 111659954 111682838 - 111117332 111140216 - 6480464 12477932;12975309;15489334;16303743;16710414;18029348;19322201;19556885;19895784;20379614;21584698;22001757 128338 Q6UX65;S4R2Z2 ABBA01068396;AK075350;AK309557;AL355816;AL833098;AMYH02001726;AY336747;AY358492;BC047025;BC091509;BQ006335;CH471122;DC339928;EF710624;NM_178454;XM_005270469;XM_005270470;XM_006710361;XM_006710362 AAH47025;AAH91509;AAQ88856;AAR02410;ABR27678;BAC11562;EAW56464;EAW56465;EAW56466;EAW56467;EAW56468;NP_848549;Q6UX65;XP_005270526;XP_005270527;XP_006710424;XP_006710425 Hs.485606 1665081;1682842;1694866;1717189;2107389;2174259 G44307;MGC54289__7726;RH121517;RH98960;SHGC-75311;SHGC-75315 MGC54289;PRO180;RP5-1180E21.1;TMEM77;WWFQ154 DNA damage-regulated autophagy modulator protein 2;OTTHUMP00000013685;damage regulated autophagy modulator 2;transmembrane protein 77 protein-coding ENSG00000156171 HGNC:28769 14685 613360 VALIDATED 1349573 DRD5P1 dopamine receptor D5 pseudogene 1 2 2 p11.1 91871911 91874257 - 91683885 91686231 - 1387108 1817 Q8NGW2 AB065661;AC027612;AMYH02004280;NG_005112 BAC05887 1742195 GDB:193457 pseudo HGNC:3027 INFERRED 70828 DRD1 dopamine receptor D1 This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 170906676 170910164 - 174867675 174871163 - 175440672 175444160 - 1580869;1625010;1580863;1600981;1300303;1300302;2302119;2311600;2302117;5686414;2311591;6480464;5686412;6907447;7248446;7248682;7248550;2311588;7248621;7248613;7248622;7248457;7248448;7248449;2314489;7248452;7248595;7248447;7248592;7248455;7248552;8554872 10948075;12111832;1386820;14612384;15798088;15983225;16365282;16855100;16905556;17182012;17191082;17314300;17353515;17395336;17558292;18402547;18413491;18815258;19582783;19675531;20339101;20435100;20513244;21527662;22171983;23041629;23762129;7954836;8636408 10051231;10618483;10692483;10890919;11140838;11331877;11500503;11583808;11723200;11773080;11783439;11893085;11918350;11920160;12036966;12047334;12150791;12164861;12181426;12408866;12477932;12497608;12509438;12509874;12646556;12738794;12781734;1282671;12966314;12967601;14569274;14993367;15159403;15192107;15247297;15272078;15489334;15549138;15564897;15569306;1557411;15607627;15621009;15704231;15717291;15722953;15785860;15927089;16338988;16344560;16391193;16397404;16424823;16594948;16816977;16846218;16876683;17066478;17092969;17194762;17310237;17394052;17395585;17455212;17466946;17506933;17679637;18023044;18030347;18092181;18172057;18197272;18205172;18210231;18237729;18240029;18270970;1831904;18341651;18366720;18382271;18403039;18403126;18424554;18451638;18516948;18558372;18583979;18615540;18644790;18676680;18687376;18689859;18821566;18832011;18855532;18937294;18937842;18946469;18984584;19000940;19005068;19058789;19086053;19105202;19143836;19153942;19156168;19170196;19171671;19176223;19182156;19197069;19235789;19367581;19413572;19523047;19563515;19625176;19647327;19692168;19695183;1975640;19772578;1977312;19786093;19864616;19874574;19897079;19913121;20071033;20081237;20127886;20164562;20180564;20351714;20382433;20395553;20407490;20452395;20456319;20468064;20531939;20592018;20628086;20672519;20677014;20685009;20714340;20732903;20734064;20807772;21041608;21083670;21115476;21178390;21181138;21211326;21258043;2144334;21549202;2168520;21768159;21797797;21853233;21893192;21955727;21976513;22093926;22100647;22206002;22277051;22310353;22336227;22404661;22408582;22495174;22552781;22574669;22699899;22710646;22764221;22843680;23036699;23185343;23185434;23195037;23231809;23251661;23445730;23661099;23680635;23698121;23842570;23908605;23952191;23976958;24004608;24078558;24135011;24136195;24167564;24523562;24719111;7838121;8264547;8301582;8810292;9457173;9920093 1812 P21728;Q6FH34 AB065677;ABBA01043995;AC091393;AF498961;AK314031;AMYH02012800;BC074978;BC074979;BC096837;CH471062;CR541922;DA249160;M85247;NG_011802;NM_000794;S58541;X55758;X55760;X58987 AAB26273;AAH74978;AAH74979;AAH96837;AAM18131;BAC05902;BAG36741;CAA39284;CAA39286;CAA41734;CAG46720;EAW61376;EAW61377;NP_000785;P21728 Hs.2624 1694898;1742849;1743065;1743067;1743069;1743071;1745129;1745131;1745133;1745135;1745909;1794328;1795700;1849889;2113812;2117399;2139170;2183229;5492723 D5S2403;DRD1;DRD1_599;G44335;GDB:210842;GDB:251589;GDB:251590;GDB:251591;GDB:251592;GDB:595086;GDB:595113;GDB:595139;GDB:595147;GDB:681987;PMC311033P2;RH16255;RH18117;SGC34944;UniSTS:482142 DADR;DRD1A D(1A) dopamine receptor;OTTHUMP00000161116;dopamine D1 receptor APPROVED protein-coding ENSG00000184845 HGNC:3020 00538 126449 REVIEWED 1343223 DRG2 developmentally regulated GTP binding protein 2 This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012] 17 17 17 p11.2 18932430 18952432 + 17991181 18011299 + 18087867 18107985 + 1580863;6480464;8554872 10552926;10760581;10828610;11997338;12477932;14702039;15113831;15489334;15676025;16189514;16344560;18029348;19946888;20877624;21139048;21296692;21890473;21906983;21963094;21987572;22505724;22863883;22939629;24654937;24816145;25027693;7929244;9434906;9605870 1819 A8MZF9;J3KRL5;J3QKV7;J3QKW7;J3QL90;J3QLF3;J3QQI1;J3QR71;J3QRI9;P55039 AB209340;ABBA01009738;AC087164;AI478627;AK095755;AK295575;AK297569;AK313362;AMYH02033107;AMYH02033108;AMYH02033109;BC000493;BC062572;BT006976;CH471196;DA602486;DC298961;NM_001388;X80754;XM_005256499;XM_005256500;XM_006721468 AAH00493;AAP35622;ABM81694;ABM84855;BAD92577;BAG36162;BAG58474;BAG59960;CAA56730;EAW55669;EAW55670;EAW55671;NP_001379;P55039;XP_005256556;XP_005256557;XP_006721531 Hs.78582 1851326;2163229;2218510 DRG2__4773;RH65958;WI-13499 DRG-2 OTTHUMP00000065704;OTTHUMP00000065705;developmentally regulated GTP-binding protein 2;developmentally-regulated GTP-binding protein 2 APPROVED protein-coding ENSG00000108591 HGNC:3030 04286 602986 REVIEWED 1354254 DRD5P2 dopamine receptor D5 pseudogene 2 1 1 q21.1 148901946 148904339 + 144689715 144692112 + 1387108;1765268;7890157;8125298 1818 Q8NH22 AB065590;AK225830;AL513526;DQ786230;FP700107;NR_111001 BAC05819 Hs.568236 pseudo HGNC:3028 VALIDATED 1605735 DRD3 dopamine receptor D3 This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008] 3 3 3 q13.3 112255976 112306017 - 113847499 113918254 - 114128710 114199407 - 1625068;1626358;1626359;1626357;1358605;2311591;5686415;5686418;5686412;5686419;5686414;6480464;7175071;7240710;8554872 10495037;11597777;12111832;12535962;1362221;15619116;16490190;16650084;17182012;17395336;8225313;8618685 10391209;10415668;10432116;10670776;10692483;10978845;11024217;11063791;11104840;11121180;11140333;11140838;11149951;11320256;11341481;11378841;11384839;11400029;11425949;11478419;11490179;11673801;11723200;11762133;11796958;11839369;11857579;11864723;11911837;11920858;12047334;12062911;12082567;12109967;12181426;12207142;12210290;12218663;12351722;12477932;12497608;12497614;12509874;12555237;12605094;12605102;12632798;12673575;12721816;12740603;12781734;12796525;12808427;12811641;12834818;12860355;12960753;12967601;14499480;14519448;14617818;14628173;14634838;14681904;14732464;15004255;15081259;15083167;15094788;15102843;15121186;15342129;15383158;15390060;15489334;15500962;15520413;15539862;15553379;15564898;15567076;15626824;15635698;15643094;15687500;15695058;15785860;15917720;15935433;15998189;16056149;16094250;16160620;16386234;16395310;16424823;16513329;16583407;16759339;16809426;16816977;16839358;16959057;16969276;17018139;17039480;17102980;17109713;17119697;17171662;17175177;17208375;17225991;17407504;17429404;17466074;17579840;17593530;17662480;17671965;17698325;17784836;17923483;17924589;18043709;18045777;18197272;18218829;18240029;18270970;18295456;18316228;18320559;18325483;18348205;18351593;18366720;18379473;18389501;18393218;18404133;18424554;18449897;18451638;18472202;18481021;18484990;18496209;18510611;18551040;18552399;18562401;18577758;18579277;18583979;18636124;18637033;18644790;18703116;18756291;18821566;18831971;18987627;18987889;19000940;19011428;19041097;19041186;19058789;19086053;19092771;19095219;19105202;19106782;19142409;19156168;1916765;19207030;19217026;19217756;19235789;19266703;19275926;19302829;19309018;19352218;19353703;19358223;19363270;19367581;19396436;19439249;19457373;19464960;19494806;19503018;19506579;19506906;19520868;19522735;19524641;19562769;19604093;19636338;19645064;19647327;19653907;19669131;19693267;1975644;19766158;19772578;19874574;19897343;19913121;19956635;19997080;20029384;20071033;20180013;20188195;20218802;20236178;20334932;20351714;20379614;20399505;20434388;20452395;20456319;20468060;20468064;20565774;20602615;20628086;20667458;20672519;20698735;20714340;20716856;20732903;20734064;20945430;20952497;20970071;21030592;21041608;21083670;21097933;21110120;2129115;21595009;21663922;21691864;21853233;21873779;21948748;22093107;22172931;22186675;22234337;22291025;22297482;22338593;22386772;22414959;22573693;22591910;22776462;22802617;22877924;22940547;22940753;22968817;22970199;23154100;23185343;23288245;23312624;23363412;23365649;23445730;23649848;23683269;23791072;23903073;23921256;23932573;23954846;23992580;24001122;24021960;24054403;24308971;24722188;2834384;7907363;7911712;7961889;8301582;8413587;8415635;8666994;8678117;8815892;9034004;9288103;9457173;9843378 1814 A1A4V4;A8K8E4;E9PCM4;P35462;X5D2G4 A19667;ABBA01061639;ABBA01061640;AC092896;AC093010;AF033621;AJ271348;AK292309;AMYH02007456;AMYH02007457;AY228454;AY228455;AY228456;AY228457;AY228458;AY228459;BC095510;BC128122;BC128123;CH471052;KJ534829;KJ535032;L20469;NG_008842;NM_000796;NM_001282563;NM_001290809;NM_033663;U25441;U32499;XM_005247171;XM_006713522 AAA03543;AAA73929;AAB08750;AAH95510;AAI28123;AAI28124;AHW56469;AHW56671;BAF84998;CAA01483;CAB70095;EAW79605;EAW79606;EAW79607;EAW79608;EAW79609;EAW79610;EAW79611;EAW79612;NP_000787;NP_001269492;NP_001277738;NP_387512;P35462;XP_005247228;XP_006713585 Hs.121478 1742603;1744527;2159837 GDB:197934;GDB:512205;RH71216 D3DR;ETM1;FET1;MGC149204;MGC149205 D(3) dopamine receptor;OTTHUMP00000214909;OTTHUMP00000214910;OTTHUMP00000214911;dopamine D3 receptor;essential tremor 1 APPROVED protein-coding ENSG00000151577 HGNC:3024 00540 126451;181500;190300 REVIEWED 736138 DRD4 dopamine receptor D4 This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 702422 705821 + 637305 640706 + 637305 640706 + 1358608;1625010;1331525;1600948;1580863;2311591;6480464;5686422;5686412;1358609;7240710;7248596;7248550;7248607;7248549;7248616;7248606 10898895;11431226;14699430;15118671;17171658;17182012;17314300;17395336;18413491;18947481;20810614;21906006;7881421;9118321 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1815 P21917;Q99587 AB065765;AB107017;AB107018;AB107019;ABBA01015197;ABBA01015198;AC138374;AF395210;AF395211;AF395212;AF395213;AF395214;AF395215;AF395216;AF395217;AF395218;AF395219;AF395220;AF395221;AF395222;AF395223;AF395224;AF395225;AF395226;AF395227;AF395228;AF395229;AF395230;AF395231;AF395232;AF395233;AF395234;AF395235;AF395236;AF395237;AF395238;AF395239;AF395240;AF395241;AF395242;AF395243;AF395244;AF395245;AF395246;AF395247;AF395248;AF395249;AF395250;AF395251;AF395252;AF395253;AF395254;AF395255;AF395256;AF395257;AF395258;AF395259;AF395260;AF395261;AF395262;AF395263;AF395264;AMYH02024147;AP006284;AY151027;AY151029;AY151030;AY151031;AY151032;AY151033;AY151034;AY151035;AY151036;AY151037;AY151038;BM674709;CH471158;EU432112;L12397;L12398;NG_021241;NM_000797;S76942;S82917;S82918 AAB33728;AAB46802;AAB46803;AAB59386;AAI72267;AAL35159;AAL35160;AAL35161;AAL35162;AAL35163;AAL35164;AAL35165;AAL35166;AAL35167;AAL35168;AAL35169;AAL35170;AAL35171;AAL35172;AAL35173;AAL35174;AAL35175;AAL35176;AAL35177;AAL35178;AAL35179;AAL35180;AAL35181;AAL35182;AAL35183;AAL35184;AAL35185;AAL35186;AAL35187;AAL35188;AAL35189;AAL35190;AAL35191;AAL35192;AAL35193;AAL35194;AAL35195;AAL35196;AAL35197;AAL35198;AAL35199;AAL35200;AAL35201;AAL35202;AAL35203;AAL35204;AAL35205;AAL35206;AAL35207;AAL35208;AAL35209;AAL35210;AAL35211;AAL35212;AAL35213;AAL58637;AAN73253;AAN73255;AAN73256;AAN73257;AAN73258;AAN73259;AAN73260;AAN73261;AAN73262;AAN73263;AAN73264;ABY87911;BAC05985;BAD00718;BAD00719;BAD00720;EAX02369;NP_000788;P21917 Hs.99922 1661979;1690204;1742425;1743241;1743827;1791626;1791896;5019373 GDB:196985;GDB:311107;GDB:374242;PMC117557P1;PMC130047P1;PMC130047P2;RH27290;RH71428 D4DR D(2C) dopamine receptor;D(4) dopamine receptor;OTTHUMP00000164435;dopamine D4 receptor;dopamine receptor 4;seven transmembrane helix receptor APPROVED protein-coding ENSG00000069696 HGNC:3025 00541 126452;143465;601696 REVIEWED 1353814 DRGX dorsal root ganglia homeobox ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN axon guidance (inferred); detection of chemical stimulus (inferred); detection of temperature stimulus (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH ammonium chloride (ortholog); choline (ortholog); folic acid (ortholog) 10 10 10 q11.23 44160334 44186078 - 50574161 50604062 - 49366116 49396016 - 728579;6480464;8554872 7496632 22228203;22394158 644168 A6NNA5;C9JW76 ABBA01041072;AC027674;AL138760;AMYH02022985;CH471187;DW009785;HY131276;KF510337;NM_001276451 A6NNA5;EAW93100;NP_001263380 Hs.534530 DRG11;PRRXL1 OTTHUMP00000019579;dorsal root ganglia homeobox protein;paired related homeobox-like 1;paired-like homeodomain trancription factor DRG11;paired-related homeobox protein-like 1 protein-coding ENSG00000165606 HGNC:21536 606701 VALIDATED 1602719 DRICH1 aspartate-rich 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH crotonaldehyde 22 22 22 q11.2 7789807 7813597 - 23950639 23974508 - 23608452 23632321 - 8554872;6480464 11230166;12477932;15461802;16344560;20237496 51233 Q6PGQ1 ABBA01055117;AK310349;AL080197;AMYH02038130;AP000346;BC056888;BC063390;CH471095;CR456370;DB052993;NM_016449;XM_005261624;XM_006724259;XR_430407;XR_430408 AAH56888;ACE86987;ACE87676;CAB75693;CAG30256;EAW59585;EAW59586;EAW59587;NP_057533;Q6PGQ1;XP_005261681;XP_006724322 Hs.517466 1682952;1700778;1784518 RH104014;RH91977;SHGC-170339 C22orf43;MGC33025;MGC75009 OTTHUMP00000198312;aspartate-rich protein 1;putative uncharacterized protein C22orf43;uncharacterized protein C22orf43 APPROVED protein-coding ENSG00000189269 HGNC:28031 17422 VALIDATED 736796 DRD2 dopamine receptor D2 This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. 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1813 F8VUV1;P14416;Q6LDH7 AB065860;AB209832;AB451480;ABBA01039788;AF050737;AF176812;AK308777;AMYH02025593;AP002840;BC021195;BF437994;CH471065;DA693976;HC295428;M29066;M30625;M77249;NG_008841;NM_000795;NM_016574;S58589;S62137;S69899;X51362;X51645;X51646;XM_005271425;XM_006718774 AAA52328;AAA52761;AAA88023;AAA88024;AAB20571;AAB26274;AAB26819;AAC78779;AAF61479;AAH21195;ABM82846;ABM86030;BAC06078;BAD93069;BAG70294;CAA35746;CAB37869;CAB56463;CBJ06538;EAW67219;EAW67220;EAW67221;EAW67222;EAW67223;EAW67224;EAW67225;NP_000786;NP_057658;P14416;XP_005271482;XP_006718837 Hs.73893 1741737;1742325;1758575;1794336;2118980;2153471;2164854;2171163;2191059 DRD2;G10651;GDB:182528;GDB:196340;MARC_13871-13872:1007494510:1;PMC311033P6;RH11104;SGC31507;SHGC-148803 D2DR;D2R D(2) dopamine receptor;OTTHUMP00000236612;OTTHUMP00000236613;OTTHUMP00000236614;OTTHUMP00000236615;OTTHUMP00000236616;dopamine D2 receptor;dopamine receptor 2;dopamine receptor D2 isoform;seven transmembrane helix receptor 2289454 BW298_H APPROVED protein-coding ENSG00000149295 HGNC:3023 00539 126450;159900 REVIEWED 1321863 DSC1 desmocollin 1 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 18 18 18 q12.1 25517395 25550695 - 28709199 28742819 - 31129236 31162856 - 1580863;6480655;6480464;8554872 21382035 10644442;11027496;11442746;11790773;12231347;12707304;14673151;15140019;16628198;17088906;1713860;17562024;19380743;19615732;20020773;20562859;21139048;21319273;21800051;22118674;22438068;22797925;23412934;23443559;23602568;23898208;23975055;7665906;7679953;7971964;8288219;8486729;8507556;8884173;9192840;9214392;9606214;9810708 1823 Q08554;Q9HB00 ABBA01022520;AC012417;AF293358;AMYH02034503;AMYH02034504;CH471088;CU444724;CU447407;NG_029192;NM_004948;NM_024421;X72925;Y11051;Z34522 AAG23424;AAG23425;AAI48350;CAA51428;CAA51429;CAA84278;CAA84279;EAX01252;EAX01253;NP_004939;NP_077739;Q08554 Hs.567260 1682077;2135778 RH18129;SGC35630 CDHF1;DG2/DG3 OTTHUMP00000162824;OTTHUMP00000162825;cadherin family member 1;desmocollin-1;desmosomal glycoprotein 2/3 APPROVED protein-coding ENSG00000134765 HGNC:3035 00511 125643 REVIEWED 1323416 DSC3 desmocollin 3 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] 18 18 18 q12.1 25378198 25430941 - 28570052 28622781 - 30990086 31042815 - 1580863;6480464;7240710;8554872;8699517 10482015;10769211;11027496;11181078;11408939;11500511;12615965;12707304;12789271;15951569;16168112;17088906;17846785;18464913;1889810;19287461;19348003;19717567;19765682;20379614;20628624;20952584;21139048;21281804;21364582;21559267;21623236;21800051;21875946;21890473;21929534;22190034;22438068;22735276;22941060;23060301;23184149;23251661;23517469;23897914;23946009;23975055;24221342;24457600;24664224;7665906;7774948;7929347;7959727;7983064;8486729;8884173;9810708 1825 J3QRL9;Q14574 ABBA01022521;AC025212;AF293359;AF297090;AI123917;AK074475;AK291748;AMYH02034500;AMYH02034501;AMYH02034502;BG214334;BG697535;CH471088;D17427;DA860471;KF456361;NG_016782;NM_001941;NM_024423;X83929 AAG17896;AAG23426;AAG23427;BAA04249;BAF84437;CAA58781;EAX01247;EAX01248;EAX01249;NP_001932;NP_077741;Q14574 Hs.41690 1672766;1678455;1679213;1685572;1764857;1795704;5014051;5022651;5037552;5117108 D11S2921;D8S2278;D8S2279;DSC3_580;GDB:437227;RH35913;RH39274;RH47848;SHGC-148419;SHGC-35086 CDHF3;DSC;DSC1;DSC2;DSC4;HT-CP cadherin family member 3;desmocollin-3;desmocollin-4 APPROVED protein-coding ENSG00000134762 HGNC:3037 02604 600271;610476;613120 REVIEWED 1605687 DROSHA drosha, ribonuclease type III Members of the ribonuclease III superfamily of double-stranded (ds) RNA-specific endoribonucleases participate in diverse RNA maturation and decay pathways in eukaryotic and prokaryotic cells (Fortin et al., 2002 [PubMed 12191433]). The RNase III Drosha is the core nuclease that executes the initiation step of microRNA (miRNA) processing in the nucleus (Lee et al., 2003 [PubMed 14508493]).[supplied by OMIM, Mar 2008] 5 5 5 p13.3 31281095 31412752 - 31400601 31532282 - 31400494 31532175 - 4144851;6480464;6907045;8554872 20661255 10713462;10948199;10976766;12191433;12477932;14508493;14702039;15231748;15489334;15531877;15565168;15574589;15589161;15932881;15987463;16147992;16344560;17081983;17121874;17255951;17474147;17581865;17626073;17765891;18559093;18632581;19047128;19092150;19135890;19138993;19721432;19759829;20083228;20210522;20211803;20379614;20585341;20705240;20721975;20732906;20805302;20819778;21139048;21145461;21559780;21683814;21690333;21697496;21769619;21794839;21890473;21898071;21953080;21963094;21987572;22162762;22371183;22381205;22393237;22394132;22479364;22496623;22554933;22647351;22766726;22796965;22935707;23225145;23266047;23272639;23305493;23349018;23370771;23602568;23663110;23763827;23863141;23969986;23974981;23995758;24009686;24297910;24360955;24457600;24550385;24589731;24677349;24778252;24854622;24909689;9464850 29102 E5RHD1;H0YB67;H7C5U6;Q9NRR4 AA917625;AB209501;ABBA01066716;ABBA01066717;AC008768;AC022417;AC106802;AF116910;AF189011;AJ242976;AK001121;AK026563;AK308093;AMYH02011111;AMYH02011112;AMYH02011113;BC024261;BC041162;BC054003;BX647724;CH471118;DB065470;HC879388;HD033097;NM_001100412;NM_013235;XM_005248291;XM_005248292;XM_005248293;XM_005248294 AAD29637;AAF80558;AAH41162;AAH54003;BAA91511;BAD92738;CAB45133;CBM42910;CBV35643;EAX10767;EAX10768;EAX10769;EAX10770;NP_001093882;NP_037367;Q9NRR4;XP_005248348;XP_005248349;XP_005248350;XP_005248351 Hs.97997 1679856;1704386;1728651;1740363;1756357;1780186;2151361;2190539;5037552 D5S2192E;D8S2279;EST20D9;G63617;RH78996;RH92866;SHGC-143335;SHGC-154556;SHGC-79713 ETOHI2;HSA242976;RANSE3L;RN3;RNASE3L;p241 OTTHUMP00000220910;OTTHUMP00000220911;OTTHUMP00000220912;OTTHUMP00000220913;RNASEN;RNase III;drosha, double-stranded RNA-specific endoribonuclease;nuclear RNase III Drosha;putative protein p241 which interacts with transcription factor Sp1;putative ribonuclease III;ribonuclease 3;ribonuclease III, nuclear;ribonuclease type III, nuclear APPROVED protein-coding ENSG00000113360 HGNC:17904 10196 608828 VALIDATED 6481037 DSCAM-IT1 DSCAM intronic transcript 1 (non-protein coding) 21 21 41990433 42002693 - 40618507 40630767 - 11329013;23251661 100874326 ABBA01044675;AF165176;AMYH02037850;BG221591;HG511831;HG511832;KF457313;NR_046774 Hs.679746 AF165176.2;zag4 ncrna HGNC:41327 PREDICTED 8694835 DSCAS DSC1/DSC2 antisense RNA ASSOCIATED WITH Melanoma (inferred) 18 18 q12.1 28681588 28730823 + 31101588 31150888 + 8554872 16344560 101927698 ABBA01022520;ABBA01022521;AC012417;AMYH02034502;AMYH02034503;DA156712;HG509892;NR_110785;XR_243864;XR_248473;XR_253783 Hs.579538 ncrna HGNC:51116 VALIDATED 5132453 DSCAM-AS1 DSCAM antisense RNA 1 21 21 21 26954097 26956372 + 41755010 41757285 + 40383083 40385358 + 12177779;12477932 100506492 ABBA01044677;AF042090;AF401029;AF401030;AF401031;AF401032;AF401033;AF401034;AF401035;AMYH02037846;BC071816;HG511827;HG511828;HG511829;HG511830;NR_038896;NR_038898;NR_038899;NR_038900 Hs.667053 5037552 D8S2279 AF042090.2;M41 APPROVED ncrna ENSG00000235123 HGNC:40197 VALIDATED 1604296 DSCC1 DNA replication and sister chromatid cohesion 1 CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009] 8 8 8 q24.12 117035242 117057287 - 120846181 120868170 - 119833941 119855930 - 6480464 12171929;12477932;12766176;12930902;12975309;14702039;16344560;16682347;18499658;19907496;20826785;21906983;21963094;22939629;24465681 79075 Q9BVC3 ABBA01037821;AC021945;AK054585;AK058129;AK074355;AK315356;AMYH02018679;AP005717;AW149121;AY358866;BC001316;BC001531;CH471060;DA346021;NM_024094;XM_005251065 AAH01316;AAH01531;AAQ89225;ABM82193;ABM85381;BAB70767;EAW91994;EAW91995;NP_076999;Q9BVC3;XP_005251122 Hs.315167 DCC1;MGC5528 OTTHUMP00000228194;defective in sister chromatid cohesion 1 homolog;defective in sister chromatid cohesion protein 1 homolog;sister chromatid cohesion protein DCC1 APPROVED protein-coding ENSG00000136982 HGNC:24453 13123 613203 VALIDATED 1353222 DSCR10 Down syndrome critical region gene 10 (non-protein coding) INTERACTS WITH (+)-catechin; atrazine 21 21 21 q22.13 24776453 24778941 + 39578250 39580738 + 38206156 38208644 + 12168953;12477932;15489334;20485444 259234 P59022 AB066291;ABBA01011097;ABBA01011098;AMYH02037812;AP001425;AW663423;BC093855;BX115939;CH471079;HG511804;NR_027695 AAH93855;BAC07550;EAX09688;P59022 Hs.147695 2220492 UniSTS:483550 APPROVED ncrna ENSG00000233316 HGNC:16302 10922 VALIDATED 732493 DSCAM Down syndrome cell adhesion molecule This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] 21 21 21 q22.2 26582079 27417510 - 41384343 42219039 - 40012415 40847113 - 734901;1580863;6480464;6484113;8554872 11280955 10830953;10925149;12051741;12435380;15169762;16009131;17721508;18197079;18519826;18585357;19196994;19211897;19240061;19945391;20379614;21079520;21360594;21507922;21645617;21906983;22685302;22744455;23251661;23479427;23518928;23671607;24047446;24057671;24639526;9426258 1826 O60469;Q8WY19 AB209136;ABBA01009317;ABBA01009318;ABBA01009319;ABBA01009320;ABBA01009321;ABBA01009322;ABBA01009323;ABBA01009324;ABBA01044672;ABBA01044673;ABBA01044674;ABBA01044675;ABBA01044676;ABBA01044677;AF023449;AF023450;AF042090;AF042091;AF043945;AF064862;AF064863;AF064864;AF064865;AF064866;AF086100;AF165176;AF217525;AF289030;AL163281;AL163282;AL163283;AMYH02037835;AMYH02037836;AMYH02037837;AMYH02037838;AMYH02037839;AMYH02037840;AMYH02037841;AMYH02037842;AMYH02037843;AMYH02037844;AMYH02037845;AMYH02037846;AMYH02037847;AMYH02037848;AMYH02037849;AMYH02037850;AMYH02037851;BE503065;CH471079;KF457309;KF457311;KF457312;KF457313;KF457314;KF457315;KF457316;KF457317;KF457318;KF457319;KF457320;KF457321;KF511419;NM_001271534;NM_001389;NR_073202;XM_006723975 AAC17966;AAC17967;AAF27525;AAL56711;BAD92373;CAB90436;CAB90444;CAB90464;EAX09620;EAX09621;NP_001258463;NP_001380;O60469;XP_006724038 Hs.397800 1336877;1338800;1340033;1645964;1656604;1657418;1659164;1662769;1662771;1663654;1671255;1676284;1681670;1694772;1695636;1704980;1721075;1730696;1730698;1730892;1730900;1735036;1756981;1757039;1757407;1769501;1774539;1787452;1794000;2110377;2128514;2138832;2156873;2159254;2172959;2175873;2182502;2183620 D21S15;D21S1729E;D21S1806;D21S1840;D21S1887;D21S1889;D21S1906;D21S1965;D21S23;D21S348;D21S349;D5S1845;DSCAM__4776;G29038;G29042;G29047;G29050;G34687;G43599;G48509;G59520;PMC310729P5;RH68680;SHGC-11765;SHGC-144335;SHGC-144398;SHGC-144799;SHGC-152951;SHGC-51860;SHGC-51874;SHGC-52082;SHGC-52084;SHGC-53823;SHGC-6872;SHGC-6874;SHGC-77994;SHGC-87651;STS-U44101 CHD2;CHD2-42;CHD2-52 OTTHUMP00000109193;OTTHUMP00000109194;human CHD2-52 down syndrome cell adhesion molecule protein-coding ENSG00000171587 HGNC:3039 03953 602523 REVIEWED 6481041 DSCR4-IT1 DSCR4 intronic transcript 1 (non-protein coding) q22.13 11329013 100874327 AP001415;AW664531;BG462133 Hs.744972 ncrna HGNC:41328 1312753 DRG1 developmentally regulated GTP binding protein 1 ENCODES a protein that exhibits identical protein binding; INVOLVED IN multicellular organismal development (inferred); transcription, DNA-templated (inferred); FOUND IN membrane; polysome; INTERACTS WITH copper(2+) sulfate; Se-methyl-L-selenocysteine; Se-methylselenocysteine 22 22 22 q12.2 15596029 15630660 + 31795539 31830172 + 31399553 31434186 + 1580863;6480464 10591208;10760581;12477932;12702552;1280421;1449490;15184886;15461802;15489334;15676025;16169070;16189514;17178897;17361185;17709345;18029348;18781797;19058789;19380743;19738201;19819225;19946888;20639865;21110914;21139048;21693764;21890473;21906983;21907836;21963094;21988832;22053931;22505724;22623428;22797925;22990118;23000965;23125841;23455922;23602568;23711155;24163370;24550385;24816145;7929244;8649774;9824680 4733 F8WEE0;H0YI06;Q9Y295 ABBA01055329;ABBA01055330;ABBA01055331;AF078103;AJ005940;AK098576;AK315659;AL096701;AL096702;AL133085;AMYH02038237;AMYH02038238;BC019285;BC020803;BT007237;BU584654;CH471095;CR456488;CR542059;NM_004147 AAD12240;AAH19285;AAH20803;AAP35901;ABM81616;ABM84798;BAG38025;CAA06775;CAB61403;CAG30374;CAG46856;CAK54479;CAK54778;EAW59974;EAW59975;EAW59976;NP_004138;Q9Y295 Hs.115242 1652067;1781076;1803932;1813292;1820970;1823242;1833028;1834102;1837072;1838354;1840644;1840646;2005846;2005848;2005850;2005852;2005854;2005856;2005858;2005860;2005862;2005864;2005866;2005868;2005870;2005872;2005874;2005876;2005878;2005880;2005882;2005884;2005886;2005888;2005890;2005892;2005894;2005896;2005898;2005900;2005902;2005904;2005906;2005908;2005910;2005912;2005914;2005916;2005918;2005920;2005922;2005924;2005926;2005928;2005930;2005932;2005934;2005936;2005938;2005940;2005942;2005944;2005946;2005948;2005950;2005952;2005954;2005956;2005958;2005960;2005962;2005964;2005966;2005968;2005970;2005972;2005974;2005976;2005978;2005980;2005982;2005984;2005986;2005988;2005990;2005992;2005994;2005996;2005998;2006000;2006002;2006004;2006006;2006008;2006010;2006012;2006014;2006016;2006018;2006020;2006022;2006024;2006026;2006028;2006030;2006032;2006034;2006036;2006038;2006040;2006042;2006044;2097358;2097360;2097362;2097364;2097366;2097368;2097370;2097372;2097374;2097376;2097378;2097380 ECD02880;ECD07666;ECD11561;ECD12710;ECD17655;ECD18199;ECD19700;ECD20351;ECD21512;ECD21513;REN73839;REN73840;REN73841;REN73842;REN73843;REN73844;REN73845;REN73846;REN73847;REN73848;REN73849;REN73850;REN73851;REN73852;REN73853;REN73854;REN73855;REN73856;REN73857;REN73858;REN73859;REN73860;REN73861;REN73862;REN73863;REN73864;REN73865;REN73866;REN73867;REN73868;REN73869;REN73870;REN73871;REN73872;REN73873;REN73874;REN73875;REN73876;REN73877;REN73878;REN73879;REN73880;REN73881;REN73882;REN73883;REN73884;REN73885;REN73886;REN73887;REN73888;REN73889;REN73890;REN73891;REN73892;REN73893;REN73894;REN73895;REN73896;REN73897;REN73898;REN73899;REN73900;REN73901;REN73902;REN73903;REN73904;REN73905;REN73906;REN73907;REN73908;REN73909;REN73910;REN73911;REN73912;REN73913;REN73914;REN73915;REN73916;REN73917;REN73918;REN73919;REN73920;REN73921;REN73922;REN73923;REN73924;REN73925;REN73926;REN73927;REN73928;REN73929;REN73930;REN73931;REN73932;REN73933;REN73934;REN73935;REN73936;REN73937;REN73938;STS-R96070;stSG602020;stSG602021;stSG602022;stSG602023;stSG602024;stSG602027;stSG602028;stSG602029;stSG602030;stSG602031;stSG602032;stSG602033;stbK210G9SP6 DKFZp434N1827;DRG-1;NEDD-3;NEDD3 OTTHUMP00000028883;developmentally regulated GTP-binding protein 1;developmentally-regulated GTP-binding protein 1;neural precursor cell expressed developmentally down-regulated protein 3;neural precursor cell expressed, developmentally down-regulated 3 protein-coding ENSG00000185721 HGNC:3029 16034 603952 VALIDATED 1315747 DSCR3 Down syndrome critical region gene 3 The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008] 21 21 21 q22.2 23794111 23838219 - 38595721 38640425 - 37223425 37268124 - 1580863;6480464 10830953;12477932;15489334;16780588;21139048;21890473;21900206;21906983;21963094;21987572;23000965;24250222;9399594;9503011 10311 A8MTY9;A8MY26;B7Z606;O14972 ABBA01057414;ABBA01057415;ABBA01057416;AJ001867;AK126461;AK299662;AK300024;AK303624;AK307465;AK312707;AK316460;AMYH02037794;AMYH02037795;AP001412;AP001432;BC110655;BX648191;CH471079;D87343;NG_009410;NM_006052;XM_005260909;XM_005260911 AAI10656;BAA23225;BAG35585;BAH13092;BAH13197;BAH14000;BAH14831;CAA05058;EAX09710;EAX09711;EAX09712;EAX09713;EAX09714;NP_006043;O14972;XP_005260966;XP_005260968 Hs.369488 1653974;1653976;1854700;2120010;2128147;2146479;2170611;5015619;5015881;5037552;5106329 A005S21;D11S3114;D8S2279;G20460;GDB:335751;SHGC-10481;SHGC-51954;SHGC-52005;SHGC-87617;SHGC-9597;STS-N32500 DCRA;DSCRA;MGC117385 Down syndrome critical region protein 3;Down syndrome critical region protein A;OTTHUMP00000109095;OTTHUMP00000109096;OTTHUMP00000109098 APPROVED protein-coding ENSG00000157538 HGNC:3044 10390 605298 REVIEWED 1312583 DSCAML1 Down syndrome cell adhesion molecule like 1 ENCODES a protein that exhibits protein homodimerization activity; INVOLVED IN brain development; embryonic skeletal system morphogenesis; homophilic cell adhesion via plasma membrane adhesion molecules; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell surface; extracellular space; INTERACTS WITH benzo[a]pyrene; cadmium atom; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 11 11 11 q23 114456148 114825824 - 117298489 117667976 - 117427773 117797261 - 1580863;6480464;8554872 10574461;11453658;12051741;12168954;12421765;18519826;19074352;19945391;20201926;20379614;23599027 57453 E9PP71;G3V1B5;Q8TD84 AB032958;ABBA01039718;ABBA01039719;ABBA01039720;ABBA01039721;ABBA01039722;ABBA01039723;ABBA01039724;ABBA01039725;AF304304;AF304305;AF334384;AF491813;AK025940;AMYH02025629;AMYH02025630;AMYH02025631;AMYH02025632;AMYH02025633;AMYH02025634;AMYH02025635;AP000711;AP000757;AP001554;AP002342;CH471065;KF511128;NM_020693 AAI56377;AAL57166;AAM09558;AAN32613;AAN32614;BAA86446;EAW67322;EAW67323;NP_065744;Q8TD84 Hs.659513 1336026;1340138;1644780;1651503;1658001;1662525;1687924;1703624;1713655;1721803;1722941;1731823;1731829;1732381;1733744;1737077;1737145;1737747;1751191;1755027;1763509;1777201;1782338;1852306;1853709;2111774;2114836;2124023;2129583;2131755;2158396;2218512;5094302;5494189;7186120 D10Bir8;D11S1091;D11S1163;D11S1373;D11S1376;D11S1858;D11S2060;D11S2085;D11S2472;D11S2829;D11S29;D11S3005;D11S3345;D11S4026;D11S4092;D11S4127;D11S4473;D11S4559;D11S490;DSCAML1__4777;G54698;G59923;G60568;RH120709;RH68617;SHGC-105111;SHGC-141970;SHGC-144571;SHGC-147206;SHGC-30873;SHGC-31198;SHGC-34966;SHGC-78717;WI-14137 KIAA1132 Down syndrome cell adhesion molecule-like protein 1;Downs syndrome cell adhesion molecule like 1;OTTHUMP00000235017;OTTHUMP00000235053;down syndrome cell adhesion molecule 2 protein-coding ENSG00000177103 HGNC:14656 10921 611782 PROVISIONAL 1353764 DSCR8 Down syndrome critical region gene 8 INTERACTS WITH valproic acid 21 21 21 q22.2 24691744 24726809 + 39493545 39528605 + 38121451 38156511 + 6480464 11329013;11920614;12036297;12213769;12477932;15472897;15489334;9503011 84677 Q6EXA9;Q96T75 AA707621;AA770014;ABBA01011098;AF321193;AF426256;AJ001904;AJ297914;AJ301615;AJ305085;AJ306839;AJ306840;AJ783421;AMYH02037812;AP001417;BC015981;BC029353;BC070229;BC117304;BC117330;BC143995;BG189423;CH471079;NR_026838;NR_026839;NR_026840;NR_026841;NR_026842 AAK52673;AAM53512;CAC82786;CAC84765;CAC84766;CAD29791;CAH03845;CAH03994;EAX09689;EAX09690;Q96T75 Hs.733345 1341211;1647264;1730684;1775918 AFM189XC5;D21S1883;D21S341;SHGC-51933 C21orf65;CT25.1a;CT25.1b;MMA-1;MMA-1a;MMA-1b;MMA1;MTAG2 ncrna ENSG00000198054 HGNC:16707 10924 613396 VALIDATED 1350545 DSCR9 Down syndrome critical region gene 9 (non-protein coding) INTERACTS WITH hydrogen peroxide 21 21 21 q22.13 23779339 23791278 + 38580804 38594037 + 37208503 37221736 + 6480464 12168953;12477932;15489334;17207965;20463881;21832049 257203 P59020 AB066100;AB212286;AB212287;AB212288;AB212289;AB212290;AB212291;ABBA01057413;ABBA01057414;AK313458;AMYH02037794;AP001432;BC029827;BC066653;CH471079;HG511795;HG511796;HG511797;HG511798;NR_026719 ADQ33075;BAC07549;BAG36245;EAX09715;P59020 Hs.505159 NCRNA00038 ncrna ENSG00000230366 HGNC:16301 10925 VALIDATED 1352817 DSCR4 Down syndrome critical region gene 4 The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. This gene is found in this region and multiple transcripts may exist. It is mainly expressed in the placenta. [provided by RefSeq, Jul 2008] 21 21 21 q22.2 24624880 24656149 - 39426313 39493454 - 38054011 38121360 - 10830953;12477932;15489334;16288839;18086574;9455479;9503011 10281 A8MZ14;E9PRE8;P56555 AB000099;ABBA01000225;ABBA01011098;AI817192;AMYH02037810;AMYH02037811;AMYH02037812;AP001409;AP001410;AP001417;AP001420;BC069729;BC096162;BC096163;BC096164;CH471079;DQ179113;KF457276;KF457278;KF457280;KF457281;KF495692;NM_005867 AAH69729;AAH96162;AAH96163;AAH96164;ADR82732;BAA25877;EAX09691;NP_005858;P56555 Hs.23251;Hs.744972 1335967;1759829;1759831;2218516;7186304;7187507 D21S259;DSCR4__4781;SHGC-170069;SHGC-170070 DCRB;DSCRB Down syndrome critical region protein 4;Down syndrome critical region protein B APPROVED protein-coding ENSG00000184029 HGNC:3045 05318 604829 REVIEWED 732671 DRP2 dystrophin related protein 2 Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] X X X q22 100993699 101038255 + 100474933 100519485 + 101219944 101264503 + 1580863;6480464 10767429;11430802;12477932;12951196;14702039;16344560;16854501;17044845;17683050;17851739;18401567;8640231 1821 F2Z3K8;Q13474 AB209305;ABBA01044955;ABBA01044956;ABBA01044957;AK091670;AK289825;AK295843;AL022155;AMYH02040065;AMYH02040066;BC036095;BC111695;CH471115;DA324498;NG_016403;NM_001171184;NM_001939;U43519;XM_006724628;Z68331;Z70280;Z70281 AAC50538;AAI11696;BAD92542;BAF82514;BAG58652;CAO03505;EAX02844;EAX02845;EAX02846;NP_001164655;NP_001930;Q13474;XP_006724691 Hs.159291 1685023;1685702;2157071;2218768 DRP2__4774;DXS7033E;RH44293;RH80834 DRP-2;MGC133255 OTTHUMP00000023672;OTTHUMP00000196858;dystrophin-related protein 2;dystrophin-related protein 2 a-form splice variant APPROVED protein-coding ENSG00000102385 HGNC:3032 02083 300052 REVIEWED 1319763 DSC2 desmocollin 2 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 18 18 18 q12.1 25454102 25490553 - 28645938 28682388 - 31065976 31102425 - 1580863;6480464;6907045;7240710;8554872;8699517 10737800;11790773;11853539;11870231;12477932;12707304;15489334;16335952;16740002;17033975;17088906;17186466;17963498;18632414;18678517;18819935;1889810;18957847;19056867;19322201;19863551;20031616;20031617;20197793;20215590;20301310;2037591;20525856;20621329;20864495;21062920;2112455;21139048;21220045;21325624;21875946;21890473;22014052;22184201;22438068;23788249;23836524;23863954;23897914;23975055;24086444;24793512;7750520;7774948;7929347;7959727;8486729;8507556;8889548;9074502;9325054;9404003;9443898;9810708 1824 Q02487;Q68DY8 ABBA01022521;AC012417;AK290313;AK297029;AMYH02034502;BC063291;BE813598;BU735677;BX648425;CH471088;CR749226;CS456343;CS456345;DC382631;EF017811;EF017812;KF573685;NG_008208;NM_004949;NM_024422;X56807;XM_005258206;Y08431 AAH63291;ABM88170;ABM88171;BAF83002;BAG59557;CAA40141;CAA40142;CAH18082;CAH56152;CAL91822;CAL91823;EAX01250;EAX01251;NP_004940;NP_077740;Q02487;XP_005258263 Hs.95612 1687259;1687936;1736862;1741849;1795702 D18S963;DSC2_1254;GDB:185730;RH18110;RH93906 ARVD11;CDHF2;DG2;DGII/III;DKFZp686I11137;DSC3 OTTHUMP00000162822;OTTHUMP00000162823;cadherin family member 2;desmocollin-2;desmosomal glycoprotein II;desmosomal glycoprotein II/III;desmosomal glycoprotein III APPROVED protein-coding ENSG00000134755 HGNC:3036 00512 125645;610476 REVIEWED 1312897 DSE dermatan sulfate epimerase The protein encoded by this gene is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is localized to the endoplasmic reticulum. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q22 117344314 117502508 + 116601231 116762422 + 116280120 116441259 + 1580863;6480464;6907045;8699517;7240710;8554872 10679095;11092984;11920522;12477932;14574404;14702039;15489334;16344560;16505484;19004833;21906983;21988832;22350411;23704329 29940 B7Z1T3;B7Z765;Q9UL01;X6REM1 ABBA01026046;AF098066;AK095123;AK128607;AK301513;AL050331;AL590542;AL832471;AMYH02014351;AMYH02014352;AMYH02014353;BC039245;BC043526;CH471051;DB282412;NG_033266;NM_001080976;NM_013352;XM_005266953;Z84488 AAF00087;AAH39245;ABM82187;ABM85373;BAG54699;BAH13501;EAW48229;EAW48230;NP_001074445;NP_037484;Q9UL01;XP_005267010 Hs.458358 1652213;1658796;1683635;1764969;2117431;2133426;2143359;2147481;2217934 A008K19;D6S1448;RH27490;RH70193;SART2_3581;SHGC-148523;SHGC-34640;STS-N35795;STS-R33137 DSEP;EDSMC2;SART-2;SART2 DS epimerase;DSEPI;OTTHUMP00000017059;chondroitin-glucuronate 5-epimerase;dermatan-sulfate epimerase;squamous cell carcinoma antigen recognized by T-cells 2 APPROVED protein-coding ENSG00000111817 HGNC:21144 05807 605942;615539 REVIEWED 9586420 DSG2-AS1 DSG2 antisense RNA 1 ASSOCIATED WITH Arrhythmias, Cardiac (inferred); Arrhythmogenic Right Ventricular Dysplasia (inferred); Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 (inferred) 18 18 29122109 29136874 - 31542146 31556911 - 8554872 12477932 100652770 ABBA01022511;AC079096;AMYH02034510;BC042986;HG509899;HG509900;NR_045216 Hs.562766 ncrna ENSG00000264859 HGNC:51311 VALIDATED 5134931 DSCR6P1 DSCR6 pseudogene 1 14 14 14 19307204 19307706 - 39442732 39443234 - 38973528 38974030 - 100421053 ABBA01061542;AL132994;AMYH02029048;NG_027264 pseudo HGNC:23340 INFERRED 1320531 DSG1 desmoglein 1 Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein 1 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus. [provided by RefSeq, Jul 2008] 18 18 18 q12.1 25705178 25744520 + 28898052 28937394 + 31318089 31357431 + 1598781;1580863;2316254;6480655;6480464;6907045;7240710;8554872;8699517 10332028;19500802;21382035 11294567;11790773;12058255;12093888;12209366;12485422;12582396;12707304;12787134;12847106;12880414;12880431;14675185;15140227;15606501;15610512;16026580;16242304;16286477;16484817;16628198;16740002;17056584;17058228;1711210;17194569;1720352;17353931;1754823;17640963;17643375;1770008;17960181;18331528;18637128;18752129;1889810;19018793;19136012;19156129;19157795;19453789;19546243;19571823;19615732;19717567;19850743;20116975;20208534;20861311;21075858;21139048;21145461;21163944;21182205;21191415;21319273;21565611;22189787;22276604;22797925;22798673;23297065;23443559;23489520;23524970;23602568;23940119;23974871;24594668;7738346;7790000;7983064;8034325;8143788;9405290;9443898;9606214 1828 Q02413 ABBA01022514;AC009717;AF088042;AF097935;AJ001716;AK302888;AMYH02034509;BX476267;CH471088;KF456367;NG_011803;NM_001942;X56654 AAC83817;AAI48375;AAI53002;BAH13831;CAA04949;CAA39976;EAX01254;NP_001933;Q02413 Hs.2633 1662032;1670907;1680028;1682758;1741847;2114126;2178156 DSG1;GDB:185729;RH18108;RH99223;SHGC-11960;SHGC-57616;STS-T69781 CDHF4;DG1;DGI;DSG;PPKS1;SPPK1 EPKHE;EPKHIA;OTTHUMP00000162826;cadherin family member 4;desmoglein-1;desmosomal glycoprotein 1;pemphigus foliaceus antigen APPROVED protein-coding ENSG00000134760 HGNC:3048 00515 125670;148700;615508 REVIEWED 1322446 DSG2 desmoglein 2 Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. This gene product is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This second family member is expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jul 2008] 18 18 18 q12.1 25885149 25935936 + 29078027 29128814 + 31498064 31548851 + 1580863;6480464;6907045;7240710;8554872;8699517 10482015;10769205;11710948;11790773;11853539;12477932;12707304;12754519;12787134;15146197;15342556;1612610;16212419;16335952;16505173;16773573;16820949;17081983;17105751;17227756;17495963;17559062;17804817;18029348;18596851;18632414;18678517;18707543;18975006;18987342;19091121;19199708;1935985;19458482;19581412;19863551;19913121;20031616;20031617;20215590;20224006;20301310;20301486;20360068;20400443;20459474;20525856;20628086;20708101;20864495;20923451;21139048;21397041;21715983;21875946;21890473;21906983;21963094;22053931;22184201;22189787;22276604;22521077;22783993;22939629;23000965;23071725;23128240;23261431;23326490;23326495;23381804;23398456;23788249;23798571;23874518;23946456;24086444;24457600;24567334;24984263;7790000;8143788;8641550;8749329;9214392;9511724;9579833 1829 J3KSI6;Q14126 ABBA01022511;AC021549;AC079096;AK308408;AMYH02034510;BC014581;BC014584;BC017410;BC022413;BC065747;BC067229;BC099655;BC099656;BC099657;BP353513;CH471088;CN347023;CN395083;DC417739;DR158777;NG_007072;NM_001943;Z26317 AAH99655;AAH99656;AAH99657;CAA81226;EAX01261;EAX01262;NP_001934;Q14126 Hs.412597 1697288;1731371;1847433;2171881;2183878;5015619;5037552 D11S3114;D18S1242;D8S2279;G10645;G29763;RH102141;UniSTS:148229 ARVC10;ARVD10;CDHF5;CMD1BB;HDGC;MGC117034;MGC117036;MGC117037 cadherin family member 5;desmoglein-2 APPROVED protein-coding ENSG00000046604 HGNC:3049 00516 125671;610193;612877 REVIEWED 8694513 DSG1-AS1 DSG1 antisense RNA 1 ASSOCIATED WITH ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (inferred); Melanoma (inferred) 18 18 q12.1 28923331 28933878 - 31343384 31353936 - 8554872 101927718 ABBA01022514;AC009717;AMYH02034509;BX476374;BX476414;DB526502;HG509895;NR_110788;NR_110789;XR_243865;XR_243866;XR_248471;XR_248472;XR_253784;XR_253785 Hs.625473 ncrna ENSG00000266729 HGNC:51115 VALIDATED 1317082 DSEL dermatan sulfate epimerase-like ENCODES a protein that exhibits isomerase activity (inferred); sulfotransferase activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); chondroitin sulfate metabolic process (inferred); dermatan sulfate biosynthetic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; calcitriol; cyclosporin A 18 18 18 q22.1 62023814 62033959 - 65173819 65183967 - 67506582 67516730 - 6480464;8554872 11752456;12477932;12556911;14702039;15489334;16505484;19734545;20125088;20358601;22779921 92126 Q8IZU8;Q9HAD7 ABBA01056267;AC110597;AF480435;AK021539;AK021849;AK023067;AMYH02034913;AV656576;BC062557;BC117325;CH471117;NM_032160 AAH62557;AAI17326;AAN32895;BAB13912;EAW66502;NP_115536;Q8IZU8 Hs.124673 1791276;5021872;5022578 D1S1423;MARC_9831-9832:996688635:1;sY3084 C18orf4;NCAG1 OTTHUMP00000163689;dermatan-sulfate epimerase-like protein protein-coding ENSG00000171451 HGNC:18144 10720 611125 VALIDATED 1346596 DSS dosage-sensitive sex reversal ASSOCIATED WITH Charcot-Marie-Tooth Disease (inferred); Charcot-Marie-Tooth Disease, Demyelinating, Type 1e (inferred); Charcot-Marie-Tooth Disease, Dominant Intermediate D (inferred) 7240710 7951319 HGNC:3055 118200;118220;118300;139393;145900;162500;180800;605253;607677;607736;607791 1348036 DSG4 desmoglein 4 This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded protein is a transmembrane component in desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and potentially in other skin disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 18 18 18 q12.1 25763866 25801005 + 28956740 28993880 + 31376777 31413917 + 1599796;1302434;1580863;6480464;7240710;8554872;8699517 15081105;15191570 12477932;12648213;12705872;15304105;15489334;15545999;16297213;16382669;16433681;16439973;16533311;16543896;16575393;17294735;17392831;19683850;22189787 147409 Q86SJ6 ABBA01022513;ABBA01022514;AC021549;AMYH02034509;AMYH02034510;AY168788;AY177663;AY177664;AY227350;AY228236;BC039098;BC132907;BC132909;CH471088;CS223437;HH935352;HI939082;HI939195;HI939308;HI987378;HI988533;HI988646;JA032901;JA033108;JA033709;JA142931;JA188682;JA188795;JA282369;JA288834;JA421468;NG_013040;NM_001134453;NM_177986 AAH39098;AAI32908;AAI32910;AAO43657;AAO47077;AAO47078;AAP45000;AAP49811;CAJ46939;CBX36877;CBY79749;CBY79768;CBY79787;CBY88743;CBY88771;CBY88790;CCA61679;CCA61698;CCA61717;CCA64044;CCA64165;CCA64184;CCA65394;CCA65425;CCD32754;EAX01256;EAX01257;NP_001127925;NP_817123;Q86SJ6 Hs.407618 CDGF13;CDHF13;HYPT6;LAH CDH family member 13;OTTHUMP00000162820;cadherin family member 13;desmoglein-4 APPROVED protein-coding ENSG00000175065 HGNC:21307 06387 607892;607903 REVIEWED 1353084 DSN1 DSN1, MIS12 kinetochore complex component This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] 20 20 20 q11.23 32087712 32109752 - 35380194 35402578 - 36751791 36774175 - 6480464 11780052;12477932;14702039;15371340;15489334;15502821;15824131;16565220;16585270;17081983;17207965;17981135;18029348;18097444;18640974;20231385;20360068;20404110;20562864;20819937;21199919;21693764;21832049;21890473;21900206;21906983;22371557;22869522;24250222 79980 A8K3X3;Q5JW53;Q5JW54;Q5JW57;Q9H410 AA534892;ABBA01006589;AK023408;AK093031;AK290738;AK301671;AK301840;AL132768;AMYH02037036;AMYH02037037;BC026011;BC035821;BC058899;CH471077;NM_001145315;NM_001145316;NM_001145317;NM_001145318;NM_024918;XM_005260558;XM_005260559;XM_006723876 AAH26011;AAH58899;ADQ32591;BAB14564;BAC04024;BAF83427;BAG63144;BAG63283;EAW76101;EAW76102;EAW76103;EAW76104;EAW76105;EAW76106;EAW76107;EAW76108;NP_001138787;NP_001138788;NP_001138789;NP_001138790;NP_079194;Q9H410;XP_005260615;XP_005260616;XP_006723939 Hs.632268 2158352;2161699 AL031191;Z94407 C20orf172;FLJ13346;KNL3;MGC32987;MIS13;dJ469A13.2;hKNL-3 DSN1, MIND kinetochore complex component, homolog;OTTHUMP00000030873;OTTHUMP00000030875;OTTHUMP00000030876;OTTHUMP00000030877;OTTHUMP00000030878;OTTHUMP00000030880;chromosome 20 open reading frame 172;kinetochore null 3 homolog;kinetochore-associated protein DSN1 homolog APPROVED protein-coding ENSG00000149636 HGNC:16165 16455 609175 REVIEWED 1347324 DSTNP1 destrin (actin depolymerizing factor) pseudogene 1 21 21 q22.3 48073439 48073934 - 46653527 46654022 - 387492 ABBA01021772;AMYH02037964;AP000339;NG_028763 pseudo HGNC:23769 INFERRED 4144439 DSTNP2 destrin (actin depolymerizing factor) pseudogene 2 12 12 12 p13 8611125 8612182 + 6993846 6994950 + 6884682 6885786 + 9074930 171220 ABBA01017662;AMYH02025957;BM993550;NR_033796;U47924;U72518 Hs.661103 1690684;2144775;5015861;5109281;7185938 D10S16;D1S1425;RH71256;RH93443 pseudo ENSG00000248593 HGNC:34546 VALIDATED 1605439 DST dystonin This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010] 6 6 6 p12.1 57984956 58169868 - 56322785 56819426 - 56457987 56954628 - 6480464;8699517;7240710;8554872 10428034;10637308;10727295;10811835;11323216;11375975;11751855;12168954;12421765;12477932;12482924;12542537;12802069;14574404;14576348;14581450;14668477;14702039;14705806;15231748;15342556;15489334;15560761;15725571;15840729;16344560;16512878;16757171;17043677;17081983;1712022;17161423;1717441;17920818;18029348;18207369;19403692;19596686;19616115;19632184;19932097;20164846;20379614;2045679;20479946;20682791;20800603;20811636;2090522;20936779;21139048;21638337;21642434;22337587;22522446;22558309;22586326;22678362;2276744;22939629;22995871;23000965;23269794;23455922;23903849;24025550;24250222;24255178;2461961;24816145;2579167;2645368;3880796;7818282;7919656;8010969;8345227;8349819;8575775;8621649;8889548;8889549;9872452 667 B4DGY0;B4DSS9;E7ERU0;E7ERX3;E7ESK0;E7ETB9;E9PEB9;E9PHM6;F6QMI7;F8W9J4;H0YAT7;H0YBX0;H0YC65;H0YC82;Q03001;Q5T0V7;Q6P0N6 AA150769;AB018271;ABBA01050489;ABBA01050490;ABBA01050491;ABBA01050492;ABBA01050493;ABBA01050494;ABBA01050495;ABBA01050496;ABBA01050497;ABBA01050498;AF083131;AF165191;AF400226;AF400227;AK023487;AK025142;AK055189;AK056797;AK090517;AK094883;AK095166;AK096713;AK125655;AK128632;AK294830;AK295864;AK299898;AL049215;AL096710;AL110142;AL137008;AL512422;AL512448;AL590005;AL590037;AMYH02013779;AMYH02013780;AMYH02013781;AMYH02013782;AMYH02013783;AU117550;AY032900;AY032901;BC004912;BC016991;BC023254;BC051772;BC065536;BP348892;BU679879;BU685436;CD367397;CH471081;DA449443;DA462108;DA786051;DN994324;KF458172;L08972;L11690;M22942;M63618;M69225;NG_029322;NM_001144769;NM_001144770;NM_001723;NM_015548;NM_183380;S73730;U04850;U31850;U31851;X58677;X75692;XM_005249310;XM_005249311;XM_005249312;XM_005249313;XM_005249314;XM_005249315;XM_005249316;XM_005249317;XM_005249318;XM_005249319;XM_005249320;XM_005249322;XM_005249323;XM_005249324;XM_005249325;XM_005249326;XM_006715169 AAA35538;AAA35606;AAA52288;AAA57184;AAA57185;AAC50243;AAC50244;AAD49334;AAF98241;AAH04912;AAH16991;AAH51772;AAH65536;AAK63130;AAK63131;AAL62061;AAL62062;BAA34448;BAB15077;BAB70870;BAC04449;BAC04848;BAG57941;BAG61741;BAH12207;CAA41528;EAX04456;EAX04457;EAX04458;EAX04459;EAX04460;EAX04461;EAX04462;EAX04463;EAX04464;EAX04465;EAX04466;EAX04467;NP_001138241;NP_001138242;NP_001714;NP_056363;NP_899236;Q03001;XP_005249367;XP_005249368;XP_005249369;XP_005249370;XP_005249371;XP_005249372;XP_005249373;XP_005249374;XP_005249375;XP_005249376;XP_005249377;XP_005249379;XP_005249380;XP_005249381;XP_005249382;XP_005249383;XP_006715232 Hs.604915;Hs.669931;Hs.728928;Hs.735651 1649805;1651770;1653941;1656473;1665625;1667616;1675062;1704894;1705384;1707368;1717977;1739539;1749615;1772802;1775559;1856342;2119552;2153854;2161013;2162465;2165955;2190573;5019771;5117032 A009Q46;D6S1122E;D6S1159E;D6S1514;D6S2014;EST4G12;G32793;GDB:377035;RH122815;RH15996;RH17608;RH46661;RH65030;RH68749;RH68834;RH69346;SHGC-111298;SHGC-24011;SHGC-79922;SHGC-83552;SHGC-84466;STS-H44575;STS-M69225;WI-11496 BP240;BPA;BPAG1;CATX-15;CATX15;D6S1101;DKFZp564B2416;DMH;DT;EBSB2;FLJ46791;HSAN6;KIAA0465;KIAA1470;MACF2 230/240 kDa bullous pemphigoid antigen;OTTHUMP00000016653;OTTHUMP00000016654;OTTHUMP00000016655;OTTHUMP00000016657;OTTHUMP00000016658;OTTHUMP00000224445;OTTHUMP00000224461;OTTHUMP00000224462;bullous pemphigoid antigen 1;bullous pemphigoid antigen 1, 230/240kDa;dystonia musculorum protein;hemidesmosomal plaque protein;trabeculin-beta APPROVED protein-coding ENSG00000151914 HGNC:1090 00222 113810;614653;615425 REVIEWED 1314043 DSP desmoplakin Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus. [provided by RefSeq, Jul 2008] 6 6 6 p24 8771623 8816711 + 7541808 7586946 + 7541637 7586713 + 1580890;1580891;1580892;1580863;6480464;6907045;7240710;8554872;8699517 11063735;12875771;8944586 10594734;10737800;10801826;10852826;10908733;11132762;11500511;11790298;11790773;11841538;11955647;12101406;12366696;12373648;12426320;12477932;12482924;12615965;12707304;14574404;15146197;15190119;15302935;15381698;15494820;15500642;15941723;16061754;16175511;16196087;16365169;16467215;16565220;16628197;1689290;16917092;1716629;1731325;17353931;17475244;17593084;18474624;18596851;18632414;1889810;19016709;19056867;19156129;19271751;19386346;19596686;19815544;19863551;19913121;19924139;19945626;20020773;20031617;20215590;20301310;20524011;20525856;20628086;20634891;20738328;20864495;20936779;20940358;21139048;21145461;21156808;21319273;21397041;21458130;21536047;21565611;21642987;21697133;21756917;21789513;21800051;21890473;21906983;21963094;21993560;22082156;22118674;22132232;22190034;22213780;22240500;22304020;22454510;2247105;22586326;22791817;22898789;22939629;22949226;23137101;23383273;23443559;23546957;23583980;23788249;2391353;23954618;24332808;24457600;24550385;24583282;24657165;7525582;7525601;8999895;9261168;9348293;9417921;9606214;9651377;9739078;9780002;9887343 1832 P15924 AB209992;AB621818;ABBA01022044;ABBA01022045;AF139065;AI304615;AK130229;AK296756;AK301676;AK304182;AL031058;AL713599;AL713610;AMYH02013062;AW890985;BC140802;BC144587;CH471087;CN282963;CS673426;CS673464;CS690809;CS690847;FB665562;FB665600;GM706774;GM706812;HM151899;J05211;KF458095;M77830;NG_008803;NM_001008844;NM_004415 AAA35766;AAA85135;AAF19785;AAI40803;ADI58529;BAC85309;BAE06074;BAG59338;BAG63149;BAG65062;BAK64154;CAP07480;CAP07499;CAP11448;CAP11467;CAR97062;CAR97081;CAT82278;CAT82313;EAW55215;NP_001008844;NP_004406;P15924 Hs.519873 1651658;1659646;1741851;1853106;2120407;2175855;2191253;2218520 A004I41;D6S2178;DSP__4785;GDB:185731;MARC_16807-16808:1042836779:1;RH46616;SHGC-35221;STS-T89283 DP;DPI;DPII 250/210 kDa paraneoplastic pemphigus antigen;OTTHUMP00000016001;OTTHUMP00000221297;desmoplakin I;desmoplakin II APPROVED protein-coding ENSG00000096696 HGNC:3052 00513 125647;605676;607450;607655;609638;612908 REVIEWED 1348238 DSG3 desmoglein 3 Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. Desmoglein 3 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This protein has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus vulgaris. [provided by RefSeq, Jul 2008] 18 18 18 q12.1 25834854 25865787 + 29027732 29058665 + 31447769 31478702 + 1580863;6480464;8554872 10949543;11425269;11500511;11710914;12138195;12477932;12485422;12496453;12586364;12707304;12787134;12953062;14675184;1601426;16015083;16344560;16377623;16403096;16740002;16763546;16842599;16878157;17084439;17113829;1720352;17255524;17428808;17431647;17532189;17640963;17846785;18095943;18343367;18434319;18505410;18586466;18637128;18641320;19056867;19164289;19287199;19342368;19348003;19678820;19772629;20093368;20618495;20923451;21151980;21702856;21864491;22189787;22261006;22294297;22318391;22495379;22796473;22996451;23010602;23297065;23326495;23602628;23625795;23737966;23752190;23806524;24328683;24498201;24550385;7738346;8034325;8143788;8320263;8663392;9074502;9405290;9424092;9710446 1830 P32926;Q7Z2Z5 ABBA01022512;AC021549;AI608626;AK290367;AMYH02034510;BC063544;BC105997;BX110234;BX507120;BX538327;CH471088;CS223365;DA447747;DA458544;M76482;NM_001944;U51696;U52195;Y08432 AAA60230;BAF83056;CAD98098;CAJ46922;EAX01258;EAX01259;NP_001935;P32926 Hs.1925 1681656;1742023;2218518;5015619;5021256;5037552 D11S3114;D8S2279;DSG3__4783;G31539;GDB:189554;RH76240 CDHF6;DKFZp686P23184;PVA 130 kDa pemphigus vulgaris antigen;130-kD pemphigus vulgaris antigen;OTTHUMP00000162828;cadherin family member 6;desmoglein 3 (pemphigus vulgaris antigen);desmoglein-3;pemphigus vulgaris antigen APPROVED protein-coding ENSG00000134757 HGNC:3050 01355 169615 REVIEWED 1312065 DSTN destrin (actin depolymerizing factor) The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p12.1 17625081 17663141 + 17549818 17588887 + 17569954 17608007 + 6480464;8554872 11418599;11780052;11812157;11832213;12477932;12665801;12700171;12775419;14627701;15231748;15489334;15816841;15862967;16189514;16815975;17081983;17196218;17353931;17583572;19056867;19471022;20835250;20873970;21139048;21319273;2156828;21571222;21890473;21906983;21963094;21987572;22118674;22505724;22797925;22898637;22939629;23000965;23402259;23509613;24250222;24457600;24583282;24816145;7615564;8399167;8674111 11034 F6RFD5;P60981;V9HWA6 ABBA01054025;AI597935;AK302338;AK308562;AK312645;AK315994;AL132765;AMYH02036768;AX888017;BC009477;BX647319;CH471133;CN482756;CR457042;CR541956;EU794606;NM_001011546;NM_006870;S65738 AAB28361;AAH09477;ACJ13660;ADZ15781;BAG35529;BAG63668;BAH14365;CAE93942;CAG33323;CAG46754;EAX10274;EAX10275;EAX10276;NP_001011546;NP_006861;P60981 Hs.304192;Hs.705996 1662642;1690684;1710100;2139312;2178380 D20S1015;RH17904;RH93443;SHGC-83719;STS-R82498 ACTDP;ADF;HEL32;bA462D18.2 OTTHUMP00000030335;OTTHUMP00000062712;actin-depolymerizing factor;bA462D18.2 (destrin (actin depolymerizing factor ADF) (ACTDP));destrin;epididymis luminal protein 32 APPROVED protein-coding ENSG00000125868 HGNC:15750 16446 609114 REVIEWED 7174970 DSTNP4 destrin (actin depolymerizing factor) pseudogene 4 3 3 3 p22.2 39186137 39197803 + 39238020 39256163 + 39212661 39214672 + 729454 ABBA01024809;AC092053;AMYH02006582;XM_006710150;XM_006713454;XM_006726407 XP_006710213;XP_006713517;XP_006726470 2129321;2146963 D3S2343;D3S4151 destrin-like protein-coding HGNC:44548 MODEL 1604373 DSTYK dual serine/threonine and tyrosine protein kinase This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 1 1 1 q32.1 178246858 178315803 - 205111631 205180727 - 205142503 205211599 - 6480464;7240710;8554872 10737800;12477932;15178406;15489334;16751776;17123648;17353931;18029348;23251661;23862974;24026423;7829101;8889548;9455484 25778 Q6XUX3 AB007941;ABBA01027425;ABBA01027426;ABBA01027427;ABBA01027428;AC093422;AF068286;AJ420466;AK298011;AMYH02002543;AMYH02002544;AMYH02002545;AY208850;AY429674;BC018303;BC048204;BC053627;BC060870;BC072406;BC117411;BC143603;BF836208;BI494979;BI494980;BM685960;BQ946417;BU168830;BU170290;BU528180;CA950005;CH471067;NG_033904;NM_015375;NM_199462 AAF65505;AAH48204;AAH53627;AAH60870;AAH72406;AAI17412;AAI43604;AAP42418;AAS55390;ACE87798;ACT64414;BAA32317;BAG60315;EAW91540;EAW91541;EAW91542;EAW91543;EAW91544;NP_056190;NP_955749;Q6XUX3 Hs.6874 1660972;1664325;1770888;1770934;1849656;1851666;2118659;2121816;2136065;2141209;2186837;5015861;5022576;5037552;7185938 D10S16;D1S1361;D8S2279;HSC26A082;RH69217;SHGC-76193;SHGC-76207;SHGC-76208;SHGC-76209;SHGC-76211;SHGC-76213;STS-M62021;STS-N25749;STS-Z41321 CAKUT1;HDCMD38P;KIAA0472;RIP5;RIPK5;sgK496 DustyPK;OTTHUMP00000035175;OTTHUMP00000035299;RIP-homologous kinase;dusty PK;dusty protein kinase;receptor interacting protein 5;receptor interacting protein kinase 5;receptor-interacting serine/threonine-protein kinase 5;sugen kinase 496 APPROVED protein-coding ENSG00000133059 HGNC:29043 11495 610805;612666 REVIEWED 4144464 DSTNP3 destrin (actin depolymerizing factor) pseudogene 3 8 8 8 q21.11 70894516 70894968 + 74896629 74897119 + 73984394 73984884 + 100287016 ABBA01041977;AC022868;AMYH02018231;NG_028172 2171472 WI-15063 pseudo HGNC:34547 INFERRED 7174902 DSTNP5 destrin (actin depolymerizing factor) pseudogene 5 2 2 2 q33.3 198926384 198926903 + 205171565 205172084 + 204306842 204307361 + 100132132 ABBA01062623;AC009498;AMYH02005604;NG_021600 pseudo HGNC:44549 INFERRED 69028 DSPP dentin sialophosphoprotein This gene encodes two principal proteins of the dentin extracellular matrix of the tooth. The preproprotein is secreted by odontoblasts and cleaved into dentin sialoprotein and dentin phosphoprotein. Dentin phosphoprotein is thought to be involved in the biomineralization process of dentin. Mutations in this gene have been associated with dentinogenesis imperfecta-1; in some individuals, dentinogenesis imperfecta occurs in combination with an autosomal dominant form of deafness. Allelic differences due to repeat polymorphisms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q21.3 85818035 85826406 + 88529681 88538025 + 87608529 87616873 + 734904;1580863;6480464;7240710;8554872;8699517 11116156 10706475;10980418;11175779;11175790;11856645;12097430;15329369;15371433;15954904;16014627;16108038;16567553;16679514;16920545;17033625;17686168;18211748;18456718;18521831;18797159;19026876;19029076;19103209;19131317;19806576;19834535;20079836;20121932;20146806;20201926;20301607;20367116;20618350;20802180;20949630;21029264;21103065;21687927;21736673;22125647;22243242;22310900;22392858;22410369;22521702;23064961;23297400;23509818;23589294;24400037;8995371;9493074;9533027;9541227;9541230;9879917 1834 Q9NZW4 ABBA01063536;AC093895;AF094508;AF163151;AMYH02009682;CH471057;EU278634;EU278635;EU278637;EU278663;EU278672;EU284751;EU284752;EU284753;GU983874;GU983875;NG_011595;NM_014208 AAD16120;AAF42472;ABX82462;ABX82463;ABX82465;ABX82491;ABX82500;ABZ91540;ABZ91541;ABZ91542;ADI24678;ADI24679;EAX05993;EAX05994;EAX05995;NP_055023;Q9NZW4 Hs.678914 1737537;1792956 D4S2691;PMC17626P1 DFNA39;DGI1;DMP3;DPP;DSP;DTDP2 OTTHUMP00000219655;dentin phosphophoryn;dentin phosphoprotein;dentin phosphoryn;dentin sialoprotein APPROVED protein-coding ENSG00000152591 HGNC:3054 00508 125420;125485;125490;125500;605594 REVIEWED 1323478 DTD1 D-tyrosyl-tRNA deacylase 1 The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein is found in the cytoplasm. [provided by RefSeq, Jul 2008] 20 20 20 p11.23 18642655 18819080 + 18568556 18744561 + 18587912 18763917 + 1580863;6480464;8554872 11780052;12392168;12477932;14702039;15489334;15653697;17207965;18029348;20065034;20379614;21139048;21479357;21565611;22863883;24772479;24816145;8889548 92675 Q496C9;Q8TEA8 ABBA01054053;ABBA01054054;ABBA01054055;AF332356;AK074304;AK291440;AL121780;AL121900;AMYH02036782;AMYH02036783;AMYH02036784;AMYH02036785;BC000599;BC045167;BC100923;BC100924;BC100925;BC100926;BI465352;BU729150;CH471133;DB550292;NM_080820;XM_005260871;XM_005260872 AAH45167;AAI00924;AAI00925;AAI00926;AAI00927;AAL57046;ADQ32454;BAB85044;BAF84129;EAX10227;EAX10228;NP_543010;Q8TEA8;XP_005260928;XP_005260929 Hs.659442 1647166;1708576;1719529;1760233;1765025;2134071;2135655;2160561;2175879 RH123497;RH16215;RH46912;RH68095;SHGC-132525;SHGC-148571;SHGC-34790;SHGC-85074;Z94412 C20orf88;DUE-B;DUEB;HARS2;MGC119131;MGC41905;bA379J5.3;bA555E18.1;pqn-68 D-tyrosyl-tRNA deacylase 1 homolog;D-tyrosyl-tRNA(Tyr) deacylase 1;DNA-unwinding element-binding protein;DNA-unwinding element-binding protein B;OTTHUMP00000030364;histidyl-tRNA synthase-related;histidyl-tRNA synthetase 2 APPROVED protein-coding ENSG00000125821 HGNC:16219 610996 REVIEWED 3103432 DTHD1 death domain containing 1 This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 4 4 4 p14 36722811 36786900 + 36283237 36346407 + 36281615 36345756 + 12477932;14702039;17201679;23105016;8889548 401124 D6RB49;Q6ZMT9 ABBA01074291;AC104078;AK094684;AK131492;AK304357;AK316523;AMYH02009019;AMYH02009020;BC157885;BM978838;DC417013;NG_032962;NM_001136536;NM_001170700;XM_006714014 AAI57886;BAD18636;BAG65199;BAH14894;NP_001130008;NP_001164171;Q6ZMT9;XP_006714077 Hs.363407 1753455 SHGC-107364 FLJ16686;FLJ37365 OTTHUMP00000218099;OTTHUMP00000218100;death domain-containing protein 1 protein-coding ENSG00000197057 HGNC:37261 REVIEWED 1604324 DTWD1 DTW domain containing 1 INTERACTS WITH 2-methylcholine; calcitriol; copper(2+) sulfate 15 15 15 q21.2 26806460 26830571 + 49913226 49937333 + 49621029 49645136 + 6480464 12477932;21832049;22041458;24816145 56986 H0YK73;H0YL61;H0YML0;H0YMP4;Q8N5C7 ABBA01039125;AC018927;AF168717;AK290184;AMYH02030395;BC018028;BC032535;BC093073;CH471082;NM_001144955;NM_020234;XM_005254561;XM_005254562 AAF87319;AAH18028;AAH32535;AAH93073;ABM81803;ABW03294;BAF82873;EAW77377;EAW77378;EAW77379;NP_001138427;NP_064619;Q8N5C7;XP_005254618;XP_005254619 Hs.127432 1681197;1851509;2129891;2137830 RH47894;RH48819;RH98968;SHGC-57453 MDS009;MGC111207 DTW domain-containing protein 1;OTTHUMP00000162307;x 009 protein protein-coding HGNC:30926 17474 VALIDATED 1319312 DTD2 D-tyrosyl-tRNA deacylase 2 (putative) ENCODES a protein that exhibits hydrolase activity, acting on ester bonds (inferred); INVOLVED IN D-amino acid catabolic process (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; ethyl methanesulfonate 14 14 14 q12 11780548 11791986 - 31915242 31926680 - 31446036 31457474 - 6480464 12477932;14702039;15489334;19322201;21832049;22939629;8889548 112487 F8VVE1;Q96FN9 ABBA01061423;AK022703;AK055367;AL139353;AL163973;AMYH02028954;AMYH02028955;BC010618;BI553940;BU675173;CH471078;NM_080664 AAH10618;EAW65944;EAW65945;EAW65946;NP_542395;Q96FN9 Hs.116014 5020229;5037552 D8S2279;L17770 C14orf126;FLJ51408;MGC9912 OTTHUMP00000178788;probable D-tyrosyl-tRNA(Tyr) deacylase 2 APPROVED protein-coding ENSG00000129480 HGNC:20277 16599 VALIDATED 1604818 DTL denticleless E3 ubiquitin protein ligase homolog (Drosophila) ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN cellular response to DNA damage stimulus; protein monoubiquitination; protein polyubiquitination; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; Cul4A-RING E3 ubiquitin ligase complex; Cul4B-RING E3 ubiquitin ligase complex; INTERACTS WITH (-)-demecolcine; 17alpha-ethynylestradiol; 17beta-estradiol 1 1 1 q32 185435998 185505287 + 212208919 212278187 + 212035553 212105006 + 6480464;8554872 11278750;12477932;14702039;15489334;16344560;16710414;16751776;16861890;16861906;16949367;16964240;16964243;17041588;17085480;17106265;17110338;18542055;18649358;18703516;18794347;19295130;19615732;19672268;20360068;20433742;20606006;20881960;20929861;20932471;20932472;21035370;21139048;21145461;21220508;21550341;21725088;21822310;21846465;21890473;21906983;21963094;21987572;21987584;22287560;22505724;23000965;23029527;23066029;23109433;23213251;23478441;23478445;23503679;23533280;23555860;23677613;23892434;23913683;23995842;24022480;24816145;24906324;24962565 51514 B4E0E6;F5GZ90;Q9NZJ0 ABBA01048185;AC092814;AF195765;AF345896;AI800751;AK000742;AK001206;AK001261;AK027651;AK292343;AK299649;AK303346;AL592297;AL606468;AMYH02002631;AMYH02002632;BC033297;BC033540;BF508267;CH471100;DB070033;DQ641253;NM_001286229;NM_001286230;NM_016448 AAF35182;AAH33297;AAH33540;AAK54706;ABG23317;ADZ15474;BAA91355;BAA91552;BAA91586;BAB55267;BAF85032;BAG61569;BAG64408;EAW93395;EAW93396;EAW93397;EAW93398;NP_001273158;NP_001273159;NP_057532;Q9NZJ0 Hs.656473 1688044;2219602 RAMP__5641;RH91389 CDT2;DCAF2;L2DTL;RAMP DDB1 and CUL4 associated factor 2;DDB1- and CUL4-associated factor 2;OTTHUMP00000035221;RA regulated nuclear matrix associated protein;RA-regulated nuclear matrix-associated protein;denticleless homolog;denticleless protein homolog;lethal(2) denticleless protein homolog;retinoic acid-regulated nuclear matrix-associated protein APPROVED protein-coding ENSG00000143476 HGNC:30288 17952 610617 VALIDATED 1319991 DTNB dystrobrevin, beta This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 2 p24 25440455 25736846 - 25600067 25896516 - 25377198 25673647 - 6480464;8554872 10545507;10747910;11316798;12477932;14600269;14623885;14702039;14759258;16189514;16448387;18391951;19931615;20530487;21139048;21347282;22120009;23502783;8125298;8619474;9110174;9146999;9395493;9419360;9540997 1838 B7Z202;B7Z6A9;E7ES64;E7EVB6;E9PE76;E9PEY4;F8W9U0;F8WD22;O60941;Q1I0L3 ABBA01045148;ABBA01045149;ABBA01045150;ABBA01045151;ABBA01045152;AC010150;AC012074;AC019144;AC104699;AF022728;AF070567;AK094494;AK225724;AK294174;AK294357;AK300019;AK301386;AMYH02003442;AMYH02003443;AMYH02003444;AMYH02003445;BC016655;BC049366;BT009805;CH471053;DB460644;DQ160290;NM_001256303;NM_001256304;NM_001256308;NM_021907;NM_033147;NM_033148;NM_183360;NM_183361;R15062;XM_005264182;XM_005264183;XM_005264184;XM_005264186;XM_006711960;XM_006711961;XM_006711962;Y12712;Y15718;Y15719;Y15720;Y15721;Y15722 AAC05082;AAC28643;AAH16655;AAH49366;AAP88807;AAY14762;AAY14840;AAY24111;AAY24207;ABA08463;ADZ15481;BAH11688;BAH11744;BAH13195;BAH13469;CAA73249;CAA75733;CAA75734;CAA75735;CAA75736;CAA75737;EAX00719;EAX00720;EAX00721;EAX00722;EAX00723;EAX00724;EAX00725;NP_001243232;NP_001243233;NP_001243237;NP_068707;NP_149159;NP_149160;NP_899204;NP_899205;O60941;XP_005264239;XP_005264240;XP_005264241;XP_005264243;XP_006712023;XP_006712024;XP_006712025 Hs.307720 1691314;1715891;1851530;2109253;2111486;2141790 D1S3300;DTNB_8316;GDB:1317430;RH122680;RH80433;SHGC-32425 DTN-B;MGC17163;MGC57126 OTTHUMP00000201254;OTTHUMP00000201255;OTTHUMP00000201256;OTTHUMP00000201257;OTTHUMP00000201258;OTTHUMP00000201261;beta-dystrobrevin;dystrobrevin beta APPROVED protein-coding ENSG00000138101 HGNC:3058 09091 602415 REVIEWED 1347578 DTX3 deltex 3, E3 ubiquitin ligase DTX3 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009] 12 12 12 q13.3 57654419 57659398 + 57998110 58003585 + 57604327 57609804 + 1580863;6480464;6907045;8554872 11226752;12477932;12670957;14702039;16344560;17028573;19549727;22493164;23105109;23503679;7671825 196403 F8VUZ4;F8VV96;H0YHF9;Q8N9I9 ABBA01026695;AC022506;AC025165;AK092085;AK094385;AK128752;AL831941;AMYH02026588;AY225126;BC035831;BC114441;BC114498;CH471054;DA684401;NM_001286245;NM_001286246;NM_178502;XM_005268697;XM_005268698;XM_005268700;XM_005268703 AAI14442;AAI14499;AAP57520;BAC03801;BAC04344;BAG54727;CAD38593;EAW97032;EAW97033;EAW97034;EAW97035;NP_001273174;NP_001273175;NP_848597;Q8N9I9;XP_005268754;XP_005268755;XP_005268757;XP_005268760 Hs.32374 1758497;2218522 DTX3__4788;SHGC-148470 FLJ34766;MGC138863;MGC138864;RNF154;deltex3 OTTHUMP00000243163;OTTHUMP00000243167;OTTHUMP00000243168;OTTHUMP00000243169;RING finger protein 154;deltex 3 homolog;deltex homolog 3;probable E3 ubiquitin-protein ligase DTX3;protein deltex-3 APPROVED protein-coding ENSG00000178498 HGNC:24457 16842 613142 VALIDATED 1353899 DTX1 deltex 1, E3 ubiquitin ligase Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008] 12 12 12 q24.13 113122650 113162824 + 113494514 113535833 + 113057857 113098028 + 6480464;6484113;6907045;8554872 11153911;11226752;11564735;11869684;12477932;12617994;12670957;12753744;15489334;15684388;17028573;17474147;18628966;19592273;19690564;20208568;21124883;21139048;21988832;22589738;23395680;7671825;9244302;9590294 1840 Q86Y01 ABBA01019945;ABBA01019946;ABBA01019947;AC089999;AF053700;AMYH02027233;BC005816;BC008321;BC048216;CH471054;NM_004416 AAC06246;AAH05816;AAH48216;EAW98028;EAW98029;NP_004407;Q86Y01 Hs.372152 1758105;1762153;2109255;2126190;2179450;5491629 DTX1_8317;MARC_26600-26601:1033757626:1;RH45549;SHGC-146048;SHGC-147414;SHGC-64337 hDTX1;hDx-1 E3 ubiquitin-protein ligase DTX1;OTTHUMP00000241684;deltex homolog 1;deltex1;protein deltex-1 APPROVED protein-coding ENSG00000135144 HGNC:3060 03991 602582 REVIEWED 1343196 DTNA dystrobrevin, alpha The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 18 18 18 q12 28881475 29280096 + 32073254 32471808 + 34493290 34891844 + 1580893;1580863;6480464;7240710;8554872;8699517 11238270 10545507;10735273;10747910;10767327;10767429;11053293;11053421;11069112;11316798;11353857;12034776;12206805;12416719;12475945;12477932;12604589;12899872;14623885;14702039;15024025;15834686;15835271;16344560;16713569;17207965;18299519;18468998;19460752;19615732;19931615;19961569;20111909;20379614;21115837;22507200;22939629;24014171;7844150;8081380;8576247;8631824;8845841;9119373;9146999;9215691;9356463;9419360;9533777;9701558 1837 B7Z3X3;K7EIV1;K7EJ84;K7EMN1;K7ENJ7;K7ER73;K7ERH7;K7ERZ2;K7ESB2;M0QZ28;M0R021;M0R0C4;Q9Y4J8 AB209102;ABBA01022455;ABBA01022456;ABBA01022457;ABBA01022458;ABBA01022459;ABBA01022460;AC009277;AC013290;AC022601;AC068506;AC103768;AI368045;AI670964;AJ009668;AK054766;AK291156;AK294746;AK295732;AK295789;AK296450;AK308410;AK315215;AL833285;AMYH02034546;AMYH02034547;AP002411;BC005300;BC033969;BC047095;BG250424;BG705393;BI668892;BT006937;BX103860;CF457303;CH471088;DA073612;DA142282;DA197970;DA398530;DC327958;DN991561;FJ535564;FJ535565;NG_009201;NM_001128175;NM_001198938;NM_001198939;NM_001198940;NM_001198941;NM_001198942;NM_001198943;NM_001198944;NM_001198945;NM_001390;NM_001391;NM_001392;NM_032975;NM_032978;NM_032979;NM_032980;NM_032981;R13506;R20627;R45531;T80537;U26742;U26743;U26744;U46744;U46745;U46746;U84540;U84547;U84551;XM_005258207;XM_005258212;XM_005258216;XM_005258217;XM_005258218;XM_005258219;XM_005258220;XM_005258221;XM_005258222;XM_005258223;XM_005258224;XM_006722395;XM_006722396;XM_006722397;XM_006722398;XM_006722399;XM_006722400;XM_006722401;XM_006722402;XM_006722403;XM_006722404;XM_006722405;XM_006722406;XM_006722407;XM_006722408;XM_006722409;XM_006722410;XM_006722411;XM_006722412;XM_006722413;XM_006722414;XM_006722415 AAB58541;AAB58542;AAB58543;AAC50424;AAC50425;AAC50426;AAC50429;AAC50430;AAC50431;AAH05300;AAP35583;AAP36484;ACE86506;ACE86539;ACE87187;ACE87219;ACU00915;ACU00916;ADQ32644;BAD92339;BAF83845;BAG57887;BAG58572;BAG58610;BAH12359;CAA08769;EAX01319;EAX01320;EAX01321;EAX01322;EAX01323;EAX01324;EAX01325;EAX01326;EAX01327;EAX01328;EAX01329;EAX01330;EAX01331;EAX01332;EAX01333;NP_001121647;NP_001185867;NP_001185868;NP_001185869;NP_001185870;NP_001185871;NP_001185872;NP_001185873;NP_001185874;NP_001381;NP_001382;NP_001383;NP_116757;NP_116760;NP_116761;NP_116762;NP_116763;Q9Y4J8;XP_005258264;XP_005258269;XP_005258273;XP_005258274;XP_005258275;XP_005258276;XP_005258277;XP_005258278;XP_005258279;XP_005258280;XP_005258281;XP_006722458;XP_006722459;XP_006722460;XP_006722461;XP_006722462;XP_006722463;XP_006722464;XP_006722465;XP_006722466;XP_006722467;XP_006722468;XP_006722469;XP_006722470;XP_006722471;XP_006722472;XP_006722473;XP_006722474;XP_006722475;XP_006722476;XP_006722477;XP_006722478 Hs.643454 1334557;1335671;1645474;1650067;1650069;1651874;1662568;1676326;1680128;1681042;1681334;1685910;1687377;1699312;1714149;1717015;1719367;1730773;1731769;1733718;1759691;1768064;1771960;1776034;1847377;1853489;2159583;2160646;2170123;2184998;2185647;5108399;7187023 A006B16;D18S104E;D18S1133;D18S1135;D18S522;D18S891;D18S892E;D18S911E;D6S1400E;G20674;HSC03H042;IB641;RH103242;RH119683;RH123411;RH124036;RH12493;RH26327;RH36366;RH46143;RH66177;RH66470;RH78470;RH81068;RH98997;SGC38125;SHGC-150924;SHGC-37630;SHGC-52539;WI-13334;WI-14278;WI-21186 D18S892E;DRP3;DTN;DTN-A;FLJ96209;LVNC1 OTTHUMP00000163151;OTTHUMP00000163152;OTTHUMP00000163153;OTTHUMP00000163154;OTTHUMP00000163155;OTTHUMP00000245175;OTTHUMP00000245176;OTTHUMP00000245177;OTTHUMP00000245178;alpha-dystrobrevin;dystrobrevin alpha;dystrophin-related protein 3 APPROVED protein-coding ENSG00000134769 HGNC:3057 03141 601239;604169 REVIEWED 1604482 DTWD2 DTW domain containing 2 INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; hydrogen peroxide 5 5 5 q23.1 114119482 114271172 - 118172569 118324240 - 118836874 118988545 - 6480464 12477932;14702039;15489334;1612591;19240061;21139048;22589738;23953852;24816145;2708378 285605 D6RBD8;D6REE2;J3KND6;Q8NBA8 ABBA01068985;ABBA01068986;ABBA01068987;ABBA01068988;ABBA01068989;AC008629;AC010462;AK091296;AK124328;AMYH02012047;AMYH02012048;AMYH02012049;AMYH02012050;BC012294;BC114508;BC114955;BX648369;CH471086;NM_173666 AAI14509;AAI14956;BAC03630;EAW48922;EAW48923;EAW48924;EAW48925;NP_775937;Q8NBA8 Hs.655891 1690061;1748715;1785254;1785310;1785750;2184927;5022651;5037552 D11S2921;D8S2279;RH80979;SHGC-104496;SHGC-110359;SHGC-111432;SHGC-82109;STS-R39822 FLJ33977;MGC138579;MGC138580 DTW domain-containing protein 2;OTTHUMP00000222970;OTTHUMP00000222971;OTTHUMP00000222972;OTTHUMP00000223087 protein-coding HGNC:19334 08168 VALIDATED 1322389 DTX2 deltex 2, E3 ubiquitin ligase DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009] 7 7 7 q11.23 71136116 71144477 - 76090972 76135312 + 76461655 76505995 + 6480464;6907045;8554872 10819331;11226752;11564735;12477932;12670957;12853948;14702039;15342556;15489334;15778465;16189514;16344560;16400609;16713569;17286044;18029348;19549727;21139048;21890473;21987572;22990118;23000965;24722188;7671825;9847074 113878 C9IYX1;C9JEH4;C9JF39;C9JII1;C9JLU8;C9JS11;C9JVC8;C9JY61;E7ET89;H7C3B8;Q86UW9 AB040961;ABBA01001730;ABBA01018522;AC005522;AC007078;AC237298;AK023924;AK026252;AK293226;AMYH02016088;AY225124;AY225125;BC008856;BC013192;BC018555;BC026059;BC064535;BC093079;BP306192;CH471325;DA003606;DA917716;DQ010329;DQ082728;DQ082730;NM_001102594;NM_001102595;NM_001102596;NM_020892;XM_005250131;XM_005250132;XM_005250134;XM_005250135;XM_006715846 AAH08856;AAH18555;AAH26059;AAH64535;AAH93079;AAP21881;AAP57518;AAP57519;AAS07525;AAY27263;AAZ06433;AAZ06435;ABM84190;ABM87592;BAA96052;BAB14727;BAG56765;EAW50382;NP_001096064;NP_001096065;NP_001096066;NP_065943;Q86UW9;XP_005250188;XP_005250189;XP_005250191;XP_005250192;XP_006715909 Hs.187058 1650690;1730243;1778240;2148996;2163092;5126515 AF021119;D7S538E;G09789;L17893;RH78947;STS-N23152 KIAA1528;MGC71098;RNF58;hDTX2 OTTHUMP00000161197;OTTHUMP00000208415;OTTHUMP00000208416;OTTHUMP00000208417;OTTHUMP00000208418;deltex homolog 2;deltex2;probable E3 ubiquitin-protein ligase DTX2;protein deltex-2;ring finger protein 58;zinc ion binding protein APPROVED protein-coding ENSG00000091073 HGNC:15973 16841 613141 VALIDATED 1344833 DTX3L deltex 3 like, E3 ubiquitin ligase DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009] 3 3 3 q21.1 120692995 120703860 + 122283085 122294050 + 122564338 122575203 + 737633;1580863;6480464;6907045;8554872 12477932 12670957;14702039;15489334;16809771;18618715;19322201;19471022;19549727;19818714;21139048;21890473;21906983;21963094;22411408;22472876;22493164;22505724;23000965;23230272;24332808;24790097;24886089 151636 Q8TDB6 ABBA01016467;AC092908;AF484416;AK025135;AK093782;AK125086;AL833598;AMYH02007541;AY225123;AY780792;BC016846;BC040372;BC042191;BC060509;BX648267;BX648645;CH471052;NM_138287 AAH42191;AAH60509;AAL90859;AAP57517;AAV98362;BAG54138;EAW79476;NP_612144;Q8TDB6 Hs.518201 1775078;1849067;5022200;5022588;5037552 D5S1597E;D8S2279;L18426;RH35942;WI-11383 BBAP B-lymphoma- and BAL-associated protein;E3 ubiquitin-protein ligase DTX3L;OTTHUMP00000215686;OTTHUMP00000215687;deltex 3-like;protein deltex-3-like;rhysin 2;rhysin-2;rhysin2 APPROVED protein-coding ENSG00000163840 HGNC:30323 16843 613143 VALIDATED 1602196 DUOXA1 dual oxidase maturation factor 1 Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 15 15 15 q21.1 22301120 22313493 - 45409564 45422075 - 45117366 45129938 - 6480464;8554872 12477932;14670962;14702039;15489334;16651268;19074510;19322654;19339556;20060878;20122987;20407074;20826581;21362455;21367925;22612456;22814254;22874065;23010498;23033809;23503679;8889548 90527 A8K9Q6;B5M0B7;B5M0B8;B5M0C0;H0YKF3;H0YKG3;H0YLI1;H0YLQ4;H0YMH9;H0YMZ8;H0YNR1;Q1HG43 ABBA01039190;AC091117;AK056896;AK292771;AMYH02030350;BC020841;BC029819;BM977797;CB850544;CH471082;DQ489735;EU927394;EU927395;EU927396;EU927397;NG_033105;NM_001276264;NM_001276265;NM_001276266;NM_001276267;NM_001276268;NM_144565;XM_005254773;XM_006720743;XM_006720744;XM_006720745;XM_006720746;XM_006720747;XM_006720748;XM_006720749;XM_006720750;XM_006720751;XM_006720752;XM_006720753;XM_006720754;XM_006720755;XM_006720756;XM_006720757;XM_006720758;XR_429475 AAH20841;AAH29819;ABF48257;ACH57453;ACH57454;ACH57455;ACH57456;ADZ15420;BAB71304;BAF85460;EAW77290;EAW77291;EAW77292;EAW77293;EAW77294;NP_001263193;NP_001263194;NP_001263195;NP_001263196;NP_001263197;NP_653166;Q1HG43;XP_005254830;XP_006720806;XP_006720807;XP_006720808;XP_006720809;XP_006720810;XP_006720811;XP_006720812;XP_006720813;XP_006720814;XP_006720815;XP_006720816;XP_006720817;XP_006720818;XP_006720819;XP_006720820;XP_006720821 Hs.356664 FLJ32334;NIP;mol NUMBIP;OTTHUMP00000162041;dual oxidase activator 1;dual oxidase maturation factor 1 alpha;dual oxidase maturation factor 1 beta;dual oxidase maturation factor 1 delta;dual oxidase maturation factor 1 gamma;homolog of Drosophila Numb-interacting protein;numb-interacting protein protein-coding ENSG00000140254 HGNC:26507 14829 612771 REVIEWED 1320047 DTYMK deoxythymidylate kinase (thymidylate kinase) ENCODES a protein that exhibits nucleoside phosphate kinase activity; thymidylate kinase activity; INVOLVED IN nucleoside monophosphate phosphorylation; nucleotide phosphorylation; PARTICIPATES IN pyrimidine metabolic pathway; ASSOCIATED WITH Liver Neoplasms, Experimental (ortholog); FOUND IN cytosol (inferred); mitochondrial intermembrane space (inferred); mitochondrial matrix (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-nicotine; 17beta-estradiol 2 2 2 q37.3 236286957 236298151 - 242615157 242626383 - 241675742 241686968 - 1580863;5133686;6480464;6907045 6244089 11008000;12477932;12614151;15489334;17643375;18413751;18469;2017365;21139048;21890473;21988832;23000965;23535732;24250222;2538159;8024690;8125298;8845311 1841 G5E9E9;H7BZ20;H7C312;H7C3A4;P23919;Q53F55;Q6FGU2 AA446104;ABBA01006062;AC133528;AC133781;AF258562;AK126180;AK223434;AMYH02006116;AW273041;BC001827;BC147006;BC147010;BC171894;BC171902;BC171903;BG765702;BM552707;BQ021114;CF528035;CH471063;CR541986;CR542015;CX166352;L16991;NM_001165031;NM_012145;NR_033255;X54729 AAG23765;AAH01827;AAI47007;AAI47011;AAI71902;AAY14920;BAD97154;CAA38528;CAG46783;CAG46812;EAW71282;EAW71283;EAW71284;EAW71285;EAW71286;NP_001158503;NP_036277;P23919 Hs.471873 1679521;1712244;2109257;2154406;2179274 DTYMK_3140;G54030;RH70744;RH93411;STS-L16991 CDC8;FLJ44192;MGC198617;PP3731;TMPK;TYMK OTTHUMP00000164604;OTTHUMP00000200145;OTTHUMP00000200146;dTMP kinase;thymidylate kinase protein-coding ENSG00000168393 HGNC:3061 01773 188345 VALIDATED 1323395 DTX4 deltex 4, E3 ubiquitin ligase ENCODES a protein that exhibits ligase activity (inferred); zinc ion binding (inferred); INVOLVED IN innate immune response (inferred); Notch signaling pathway (inferred); positive regulation of type I interferon production (inferred); PARTICIPATES IN Notch signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH benzo[a]pyrene; calcitriol; cyclosporin A 11 11 11 q12.1 56298909 56335157 + 58939812 58976060 + 59172339 59208587 + 1580863;6480464;6907045;8554872 10231032;12477932;15489334;15684394;18976975;22388039;22939624 23220 Q9Y2E6 AB023154;ABBA01021496;AF086290;AMYH02024862;AP001258;AP002358;BC015592;BC119011;BC122861;BF195769;CH471076;NM_001300727;NM_015177;XM_006718483 AAI19012;AAI22862;BAA76781;EAW73838;NP_001287656;NP_055992;Q9Y2E6;XP_006718546 Hs.523696 1650464;1669563;1782492;2126450;2142767;2165849;2168384;2168386 A001W11;D11S1176;G19706;RH16197;SHGC-172592;SHGC-34178;STS-T98251;WI-20048 KIAA0937;MGC141899;RNF155 E3 ubiquitin-protein ligase DTX4;OTTHUMP00000235742;OTTHUMP00000235743;RING finger protein 155;deltex 4 homolog;deltex homolog 4;deltex4;protein deltex-4 APPROVED protein-coding ENSG00000110042 HGNC:29151 VALIDATED 1349024 DURS1 Duane's retraction syndrome 1 ASSOCIATED WITH Duane Retraction Syndrome (inferred) 7240710 7849713 10674 1339594;1339852 D8S1767;D8S533 HGNC:3063 126800 1342501 DTNBP1 dystrobrevin binding protein 1 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p22.3 16760985 16901244 - 15523032 15663289 - 15522801 15663058 - 1358610;1580863;6480464;7240710;8699517;8554872 12474144 11031247;11230166;11252894;11316798;12098102;12191018;12453182;12477932;12576321;12591580;12808430;12888799;12923531;14574404;14618545;14688250;14702039;15066891;15102850;15121479;15124015;15124027;15211634;15248869;15274041;15345706;15362017;15374586;15489334;15820225;15917270;16044171;16133786;16189514;16283082;16407900;16415041;16448387;16513878;16837549;16876895;16899160;16930638;16946192;16959423;16967465;16980328;17033966;17043677;17055463;17074466;17192893;17264804;17290445;17300918;17336946;17407805;17408693;17410640;17433541;17445278;17474147;17476109;17555717;17604607;17618940;17888175;17945199;17961984;17964051;17989303;18029348;18162312;18180429;18182443;18198266;18234478;18314870;18411704;18466879;18473158;18516516;18562100;18583979;18797396;18804346;19065121;19077176;19089808;19142223;19219857;19252939;19328558;19335929;19349376;19353385;19367581;19369910;19439994;19449336;19475563;19482054;19496996;19497374;19573260;19615732;19617633;19621369;19631276;19650139;19672240;19729970;19760674;19782967;19800201;19859905;19862852;19884986;19937977;19996605;20010894;20083391;20174469;20180862;20199207;20301464;20421849;20598229;20602615;20615259;20615671;20638435;20666140;20683774;20822372;20829635;20846375;20921223;20951386;21041608;21130223;21184829;21295953;21305691;21390302;21512575;21520000;21639861;22019876;22283763;22337344;22580710;22911901;23364359;23497497;23612411;23750231;24250222;24722188;24816145 84062 A6NFV8;D6RAR7;D6RAX1;D6RB80;D6RCT8;D6RID1;D6RJC6;Q96EV8 ABBA01022173;ABBA01022174;AF061734;AF394226;AI097393;AK054593;AK290718;AK310590;AL021978;AL022343;AL136637;AMYH02013169;AMYH02013170;AMYH02013171;AMYH02013172;AMYH02013173;AMYH02013174;AY265460;BC011912;BE793298;BQ056746;BQ108775;BX394617;CH471087;NG_009309;NM_001271667;NM_001271668;NM_001271669;NM_032122;NM_183040;NR_036448;XM_005249447;XM_006715226;XM_006715227 AAG43145;AAH11912;AAL46636;AAP91870;ACE86561;ACE86918;ACE87243;ACE87605;BAB70770;BAF83407;CAB66572;EAW55359;EAW55360;EAW55361;EAW55362;EAW55363;EAW55364;NP_001258596;NP_001258597;NP_001258598;NP_115498;NP_898861;Q96EV8;XP_005249504;XP_006715289;XP_006715290 Hs.571148 1675567;1699986;1710880;1857161;2106471;2125727;2141456;7184723 D6S89;DTNBP1__4787;RH103603;RH46674;RH48727;RH94110;SHGC-84219;WI-18297 BLOC1S8;DBND;DKFZp564K192;FLJ30031;HPS7;MGC20210;My031;SDY BLOC-1 subunit 8;OTTHUMP00000016062;OTTHUMP00000016063;OTTHUMP00000221462;OTTHUMP00000221485;biogenesis of lysosomal organelles complex-1, subunit 8;biogenesis of lysosome-related organelles complex 1 subunit 8;dysbindin;dysbindin-1;hermansky-Pudlak syndrome 7 protein APPROVED protein-coding ENSG00000047579 HGNC:17328 06190 181500;607145;614076 REVIEWED 1351671 DURS2 Duane retraction syndrome 2 ASSOCIATED WITH Duane Retraction Syndrome (inferred) 7240710 10577917 27011 HGNC:13274 604356 1603235 DUOXA2 dual oxidase maturation factor 2 This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010] 15 15 15 q15.1 22297958 22301739 + 45406523 45410304 + 45114325 45118106 + 6480464;7240710;8554872;8699517 12477932;16344560;16651268;17374849;18042646;18700007;19339556;21321110;22592922;22814254;23292166 405753 Q1HG44 ABBA01039190;AC091117;AK303955;AMYH02030350;BC137465;BM987789;BX537581;CH471082;DB243076;DC393748;DQ489734;NG_009447;NG_016992;NM_207581 AAI37466;ABF48256;BAG64881;EAW77289;NP_997464;Q1HG44 Hs.497987 TDH5 OTTHUMP00000162043;SIMNIPHOM APPROVED protein-coding ENSG00000140274 HGNC:32698 14224 274900;612772 REVIEWED 1345114 DUOX1 dual oxidase 1 The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012] 15 15 15 q15.3 22313628 22349058 + 45422192 45457776 + 45129994 45165578 + 727755;1580863;6480464;8554872 10806195 10601291;11443211;11514595;11753072;11762710;11822874;12477932;12482831;12824283;14702039;15062544;15210697;15489334;15561711;15640347;15677770;15972824;16111680;16478776;16608528;17135261;17337509;18177232;18281478;18606821;19144650;19339556;19460756;19730683;19952225;20056178;20085766;20346360;20682913;20709024;21389273;21411736;21915726;22523549;23225414;23281318;23349873;23362256;23691121;24164541;8889548 53905 H0YK19;H0YNR5;Q9NRD9 ABBA01039189;ABBA01039190;AC051619;AC091117;AF213465;AF230495;AK075268;AK128591;AK172859;AK290372;AL137592;AMYH02030350;AMYH02030351;BC114628;BC114938;CB852814;CH471082;KC877542;NM_017434;NM_175940;XM_005254463 AAF71295;AAF73921;AAI14629;AAI14939;BAD18816;BAF83061;CAB70831;EAW77295;EAW77296;EAW77297;NP_059130;NP_787954;Q9NRD9;XP_005254520 Hs.272813 2109259;2111172;2116924;2118857;5015961;5024039;5037552;5109281 AFM189xg5;D15S1477;D15S222;D16S325;D1S1425;D8S2279;DUOX1_9771;IB532 LNOX1;MGC138840;MGC138841;NOXEF1;THOX1 NADPH thyroid oxidase 1;flavoprotein NADPH oxidase;large NOX 1;long NOX 1;nicotinamide adenine dinucleotide phosphate oxidase;thyroid oxidase 1 APPROVED protein-coding ENSG00000137857 HGNC:3062 08421 606758 REVIEWED 1321010 DUPD1 dual specificity phosphatase and pro isomerase domain containing 1 ENCODES a protein that exhibits protein tyrosine phosphatase activity (inferred); INVOLVED IN peptidyl-tyrosine dephosphorylation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH ethanol; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 10 10 10 q22.2 70085843 70106521 - 76797230 76833383 - 75037472 75073625 - 6480464 12477932;17498703;19851299 338599 Q68J44 ABBA01020266;ABBA01020267;AC018511;AL392111;AMYH02023360;AX513200;AY686755;BC137321;BC137322;CH471083;NM_001003892;XM_005269762 AAI37322;AAI37323;AAT94288;CAD52861;EAW54560;NP_001003892;Q68J44;XP_005269819 Hs.535090 1725405 RH119020 DUSP27;FMDSP OTTHUMP00000019871;atypical dual-specific protein phosphatase;dual specificity phosphatase 27;dual specificity phosphatase DUPD1 protein-coding ENSG00000188716 HGNC:23481 16846 PROVISIONAL 1605962 DUS1L dihydrouridine synthase 1-like (S. cerevisiae) ENCODES a protein that exhibits flavin adenine dinucleotide binding (inferred); tRNA dihydrouridine synthase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); tRNA dihydrouridine synthesis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cobalt dichloride; copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q25.3 76609999 76617972 - 80015748 80023697 - 82057872 82065821 - 6480464;8554872 12477932;15489334 64118 F5H0Q0;H0YGW8;J3KSK2;J3KT57;J3QKP9;J3QLE4;J3QQL9;J3QQZ0;Q6P1R4 ABBA01019661;ABBA01019662;AC135056;AF202637;AK226154;AK298330;AL539521;AMYH02034148;BC003659;BC017081;BC062566;BC064918;BG709424;BM907569;CH471099;DB481578;NM_022156;XM_005256393;XM_005256394;XM_006722288;XM_006722289 AAG22491;AAH03659;AAH17081;AAH62566;AAH64918;ADR83302;BAG60579;EAW89743;EAW89744;NP_071439;Q6P1R4;XP_005256450;XP_005256451;XP_006722351;XP_006722352 Hs.514599;Hs.741994 1680543 RH98836 DUS1;PP3111 tRNA-dihydrouridine synthase 1-like;tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like protein-coding HGNC:30086 17885 VALIDATED 1604330 DUS3L dihydrouridine synthase 3-like (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN oxidation-reduction process (inferred); tRNA dihydrouridine synthesis (inferred); INTERACTS WITH 2-methylcholine; cyclosporin A; progesterone 19 19 19 p13.3 5723144 5730021 - 5785151 5791249 - 5785140 5791238 - 6480464 12477932;14702039;15489334;16344560;21252943;21832049;21890473;21906983;21963094;22505724;22863883;23000965;24163370;24250222;24816145 56931 B2RDV7;K7EJX8;K7EM42;K7EPA4;K7EQU9;K7ER20;K7ERF2;Q96G46 ABBA01055991;AC011499;AF074704;AF091072;AK023958;AK225840;AK297037;AK315691;AL365411;AMYH02035337;BC004549;BC008362;BC009973;CH471139;DA839738;NM_001161619;NM_020175;XR_244033 AAC72941;AAH04549;AAH08362;AAH09973;ACE87050;ACE87732;ADZ15337;BAB14740;BAG38054;BAG59565;CAB96955;EAW69141;EAW69142;EAW69143;EAW69144;EAW69145;EAW69146;NP_001155091;NP_064560;Q96G46 Hs.284297 1675624 RH98517 DUS3;FLJ13896 tRNA-dihydrouridine synthase 3-like;tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like protein-coding ENSG00000141994 HGNC:26920 14252 VALIDATED 1353863 DUOX2 dual oxidase 2 The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008] 15 15 15 q15.3 22276281 22297794 - 45384851 45406537 - 45092653 45114161 - 727755;734905;6480464;7240710;8554872;8699517 10806195;12110737 10601291;10737800;11032719;11443211;11514595;11753072;11762710;11822874;12824283;15062544;15150274;15210697;15561711;15591162;15677770;15972824;16111680;16134168;16322276;16478776;16608528;16651268;17374849;17684392;18177232;18281478;18765513;19144650;19199708;19339556;19759286;19789206;19913121;19952225;20056178;20346360;20381453;20511343;20531308;20628086;20826581;21148036;21321110;21565790;21704604;21714724;21915726;22336364;22523549;22592922;22814254;23225414;23281318;23296709;23362256;23404210;23457309;23545780;23728617;24164541;24423310;24735383 50506 Q59GU9;Q9NRD8;X6RAN8 AB209010;ABBA01039190;AC091117;AF181972;AF230496;AF267981;AMYH02030350;BI045475;CH471082;NG_009447;NM_014080;XM_005254421 AAF20055;AAF73922;AAF78954;BAD92247;EAW77288;NP_054799;Q9NRD8;XP_005254478 Hs.71377 2109261;2126120;5015619;5037552 D11S3114;D8S2279;DUOX2_9644;SHGC-57395 LNOX2;NOXEF2;P138-TOX;TDH6;THOX2 NADH/NADPH thyroid oxidase p138-tox;NADPH oxidase/peroxidase DUOX2;NADPH thyroid oxidase 2;OTTHUMP00000162044;dual oxidase-like domains 2;flavoprotein NADPH oxidase;large NOX 2;long NOX 2;nicotinamide adenine dinucleotide phosphate oxidase;p138 thyroid oxidase;thyroid oxidase 2 APPROVED protein-coding ENSG00000140279 HGNC:13273 05997 606759;607200 REVIEWED 1315996 DUSP11 dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is localized to the nucleus and binds directly to RNA and splicing factors, and thus it is suggested to participate in nuclear mRNA metabolism. [provided by RefSeq, Sep 2008] 2 2 2 p13.1 73840186 73858141 - 73989325 74007284 - 73762198 73780157 - 1580863;6480464;8554872 10347225;12477932;15342556;15489334;15635413;16169070;19120688;19322201;19460752;20383145;20811636;21890473;21931564;22505724;24250222;24447265;24457600;24654937;9685386 8446 C9JYA6;H7C0E6;O75319 ABBA01075585;AC092653;AF023917;AK315271;AMYH02004076;BC000346;BP349009;BP359552;CH471053;CR627368;NM_003584;XM_005264604;XR_244962 AAC39925;AAH00346;ABM82282;ABM85463;BAG37685;CAH10467;EAW99718;EAW99719;NP_003575;O75319;XP_005264661 Hs.14611 1654758;1666734;1699172;1718633;1795708;2136823 DUSP11_1250;RH103166;RH123002;RH65653;RH65821;STS-AA037694 PIR1 OTTHUMP00000160248;RNA/RNP complex-1-interacting phosphatase;RNA/RNP complex-interacting phosphatase;dual specificity protein phosphatase 11;phosphatase that interacts with RNA/RNP complex 1;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000144048 HGNC:3066 04368 603092 REVIEWED 1603040 DUS2 dihydrouridine synthase 2 This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to tRNA. The encoded protein may increase the rate of translation by inhibiting an interferon-induced protein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] 16 16 16 q22.1 52565657 52621610 + 68056847 68113226 + 68022944 68079323 + 6480464 12477932;14702039;15489334;15994936;17207965;18029348;18096616;18425323;20877624;21890473;21900206;21906983;21963094;21988832;22442237;22741570 54920 B4DKP8;E7EUN9;H3BM64;H3BMK6;H3BQX4;H3BRI6;H3BSF3;H3BTR3;I3L0K0;I3L1K5;I3L4H0;I3L4Y9;J3QLD5;Q9NX74 AB101210;ABBA01025471;ABBA01025472;ABBA01025473;ABBA01025474;ABBA01025475;ABBA01025476;ABBA01025477;AC130462;AK000406;AK290578;AK296663;AMYH02032245;AMYH02032246;BC006527;CH471092;CS415678;DC397403;HB962190;HC470471;HD019600;JA237905;NM_001271762;NM_001271763;NM_017803 AAH06527;ADQ32741;BAA91143;BAE07219;BAF83267;BAG59260;CAL48157;CBG15707;CBL54451;CBV29153;CCA65343;EAW83207;EAW83208;EAW83209;NP_001258691;NP_001258692;NP_060273;Q9NX74 Hs.534460;Hs.744492 1657189;2153778;2160625 Bdy91f03;D16S3211;SHGC-57903 DUS2L;FLJ20399;SMM1;URLC8;hDUS2 OTTHUMP00000174842;SMM1 homolog;dihydrouridine synthase 2-like, SMM1 homolog;tRNA-dihydrouridine synthase 2-like;tRNA-dihydrouridine(20) synthase [NAD(P)+]-like;up-regulated in lung cancer 8;up-regulated in lung cancer protein 8 APPROVED protein-coding ENSG00000167264 HGNC:26014 08624 609707 REVIEWED 731810 DUSP12 dual specificity phosphatase 12 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq, Jul 2008] 1 1 1 q21-q22 134823009 134830369 + 161719558 161726952 + 161749768 161757162 + 1580863;6480464 10446167;12477932;15489334;16169070;16189514;16710414;16936214;18029348;18269685;18854154;18973475;19087671;19567874;20103624;21211013;21521943;21556130;21832049;21900206;24816145;8670865 11266 Q9UNI6;V9GY92;V9GYV5 ABBA01047314;ABBA01047315;AC243424;AF119226;AK000259;AL359541;BC006286;BT006633;CH471067;NM_007240;XM_005244862 AAD51134;AAH06286;AAP35279;ABM83692;ABM87010;EAW90692;NP_009171;Q9UNI6;XP_005244919 Hs.416216 1646569;2151673;2217276 DUSP12_2953;RH69474;SGC30714 DUSP1;YVH1 OTTHUMP00000032494;YVH1 protein-tyrosine phosphatase ortholog;dual specificity protein phosphatase 12;dual specificity tyrosine phosphatase YVH1;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000081721 HGNC:3067 05323 604835 REVIEWED 7257626 DUSP12P1 dual specificity phosphatase 12 pseudogene 1 3 3 3 98330724 98333301 - 99940127 99942702 - 100221283 100223858 - 100420473 ABBA01061795;AC129803;AMYH02007301;NG_025604 pseudo HGNC:49059 INFERRED 1321979 DUSP10 dual specificity phosphatase 10 Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAP kinase superfamily, which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAP kinases, different tissue distribution and subcellular localization, and different modes of expression induction by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] 1 1 1 q41 195094721 195135415 - 221874764 221916204 - 221701422 221742174 - 2293881;2301725;6480464;6907045;7240533;7775013 11027531;15306813;17208316;20626350 10391943;10597297;11060451;11157753;11359773;12477932;15342556;15489334;16166642;16341674;16565220;16710414;16806267;17151092;17400920;17681939;18029348;18314537;19913121;20379614;20628086;20936779;20972440;21487011;21900206;21988832;22245064;22375048;22711061;23233447;23275563;23936387;23993976;9571625;9628821 11221 B4DDQ0;Q9Y6W6 AA431025;AB026436;ABBA01048062;AF179212;AI220242;AI261880;AK022513;AK293287;AL590966;AMYH02002741;AMYH02002742;BC020608;BC031405;BC063826;BG720911;BP222019;BQ000769;BQ082194;BQ223632;CH471100;CR457092;HC192022;HC192024;NM_007207;NM_144728;NM_144729;NR_111939;NR_111940 AAD51857;AAH20608;AAH31405;AAH63826;ABM86183;ABW03693;BAA81668;BAB14070;BAG56811;CAG33373;CBI69376;CBI69577;EAW93283;EAW93284;EAW93285;EAW93286;EAW93287;NP_009138;NP_653329;NP_653330;Q9Y6W6 Hs.497822;Hs.732301 1644658;1671071;1692118;1756073;2158728 AL033755;RH69568;SHGC-142873;SHGC-76391;SHGC-76392 MKP-5;MKP5 OTTHUMP00000035380;dual specificity phosphatase MKP-5;dual specificity protein phosphatase 10;map kinase phosphatase 5;mitogen-activated protein kinase phosphatase 5;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000143507 HGNC:3065 12320 608867 REVIEWED 1344710 DUSP13 dual specificity phosphatase 13 Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and differentiation. This superfamily is separated into two families based on the substrate that is dephosphorylated. One family, the dual specificity phosphatases (DSPs) acts on both phosphotyrosine and phosphoserine/threonine residues. This gene encodes different but related DSP proteins through the use of non-overlapping open reading frames, alternate splicing, and presumed different transcription promoters. Expression of the distinct proteins from this gene has been found to be tissue specific and the proteins may be involved in postnatal development of specific tissues. A protein encoded by the upstream ORF was found in skeletal muscle, whereas the encoded protein from the downstream ORF was found only in testis. In mouse, a similar pattern of expression was found. Multiple alternatively spliced transcript variants were described, but the full-length sequence of only some were determined. [provided by RefSeq, Jul 2008] 10 10 10 q22.2 70142445 70157225 - 76854190 76868976 - 75094432 75109218 - 1580863;6480464 10585869;12477932;14702039;15164054;15252030;15489334;15761153;16189514;16385451;17044055;21360282 51207 E9PSD4;F2Z2C4;Q6B8I1;Q9UII6;U3KQ82;U3KQA1;U3KQB7;U3KQE1;U3KQG1 AB027004;AB103375;ABBA01020265;ABBA01020266;AI971328;AK057012;AK127886;AK291891;AK291897;AK300679;AL392111;AMYH02023361;AY040091;AY674051;BC009778;BU580940;CH471083;CR457094;NG_033976;NM_001007271;NM_001007272;NM_001007273;NM_016364;XM_005269883;XM_005269884;XM_005269886;XM_005269887;XM_005269888;XM_005269889;XM_005269890 AAH09778;AAK77966;AAT79356;ABM83658;ABM86905;BAA89412;BAD91014;BAF84580;BAF84586;BAG51843;BAG54592;BAG62362;CAG33375;EAW54561;EAW54562;EAW54563;EAW54564;NP_001007272;NP_001007273;NP_001007274;NP_057448;Q6B8I1;Q9UII6;XP_005269940;XP_005269941;XP_005269943;XP_005269944;XP_005269945;XP_005269946;XP_005269947 Hs.178170 1689438;1775445;1850937 RH94133;SHGC-3139;SHGC-57611 BEDP;DUSP13A;DUSP13B;FLJ32450;MDSP;SKRP4;TMDP OTTHUMP00000019875;OTTHUMP00000233098;OTTHUMP00000239701;OTTHUMP00000239702;branching-enzyme interacting DSP;branching-enzyme interacting dual-specificity protein phosphatase;dual specificity phosphatase SKRP4;dual specificity protein phosphatase 13;dual specificity protein phosphatase 13 isoform MDSP;dual-specificity phosphatase SKRP4;muscle-restricted DSP;testis- and skeletal-muscle-specific DSP APPROVED protein-coding ENSG00000079393 HGNC:19681 13251 613191 REVIEWED 1321793 DUSP16 dual specificity phosphatase 16 This gene encodes a mitogen-activated protein kinase phosphatase that is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. The encoded protein specifically regulates the c-Jun amino-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK) pathways.[provided by RefSeq, May 2010] 12 12 12 p13 17770364 17859590 - 12626216 12715773 - 12473282 12562839 - 1580863;2293881;6480464;6907045;7240533;7775014 17208316;20626350;23280045 11214970;11359773;11489891;12477932;12524447;12794087;14586399;14702039;15489334;15689616;15888437;16344560;18854154;19228121;19307591;20122898;20379614;20551953;20936779;22182512;22245064;23077088;23128233;23233447;23639976;23926106 80824 F5H5X4;Q96QS2;Q9BY84 AB051487;AB052156;ABBA01067843;AC007619;AC092824;AF506796;AK022103;AK055973;AK093617;AK098310;AL137633;AMYH02026058;AMYH02026059;AMYH02026060;AX260340;AX278461;AX405700;AY038927;BC031643;BC042101;BC109234;BC109235;CH471094;DB094627;KF455604;NG_021402;NM_030640;XM_005253488;XM_006719155 AAH31643;AAH42101;AAI09235;AAI09236;AAK69770;AAN75120;BAB21791;BAB40814;BAB71060;CAD10218;CAD10545;CAD34807;EAW96262;EAW96263;EAW96264;NP_085143;Q9BY84;XP_005253545;XP_006719218 Hs.536535 1341320;1678901;1678971;1725963;1726003;1770427;1782796;1797486;1848670;1851097;2141339;2145629;2155313;2160041;2160043;2161381;7184014 A005C29;A009A32;D12S1217E;D12S358;DUSP16_2046;G20275;G41291;G41293;G62270;G62398;RH65799;RH76656;RH99168;SHGC-83859;STS-F10818;WI-11609 FLJ36298;FLJ40991;KIAA1700;MGC129701;MGC129702;MKP-7;MKP7 MAP kinase phosphatase 7;MAPK phosphatase-7;OTTHUMP00000239080;dual specificity protein phosphatase 16;mitogen-activated protein kinase phosphatase 7 APPROVED protein-coding ENSG00000111266 HGNC:17909 09525 607175 REVIEWED 1316598 DUSP14 dual specificity phosphatase 14 Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP14 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009] 17 17 17 q12 32672947 32696576 + 35849951 35873603 + 37489845 37513501 + 1580863;6480464;6907045 11123293;12477932;15489334;17178844;18201568;19228121;19770498;20694014;21139048;21800051;21890473;21906983;21963094;21988832;22233810;23000965;23229544;23535730;24250222;24457600 11072 O95147;Q6FI36 ABBA01001363;ABBA01001364;AC004099;AC243585;AC243654;AF038844;AF120032;AK027210;AK314894;BC000370;BC001894;BC004448;CH471199;CR536500;CR541800;NM_007026;XM_005256977;XM_006725300 AAD02105;AAF28861;AAH00370;AAH01894;AAH04448;ABM82305;ABM85482;ABW03434;BAG37408;CAG38739;CAG46599;EAW57592;EAW57593;NP_008957;O95147;XP_005257034;XP_006725363 Hs.91448 1767200;1767202;2132736;2161152;5017469 A005V20;D17S1362E;D17S1660;Dusp14;G20534 MKP-6;MKP-L;MKP6 MAP kinase phosphatase 6;MKP-1 like protein tyrosine phosphatase;MKP-1-like protein tyrosine phosphatase;OTTHUMP00000164064;OTTHUMP00000164065;dual specificity protein phosphatase 14;mitogen-activated protein kinase phosphatase 6 APPROVED protein-coding ENSG00000276023 HGNC:17007 09427 606618 VALIDATED 1314060 DUSP2 dual specificity phosphatase 2 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1 and ERK2, is predominantly expressed in hematopoietic tissues, and is localized in the nucleus. [provided by RefSeq, Jul 2008] 2 2 2 q11 91249715 91251986 - 96808908 96811206 - 96143169 96145440 - 1580863;6480464;6907045 12477932;12575935;12673251;12826159;14680939;15489334;16288922;17471234;17827388;18178562;18600034;19797078;19913121;20628086;20723301;21490398;21906983;21963094;21984126;21987572;22505724;7535770;7590752;7681221;7806236;8107850 1844 Q05923;Q8WXV0 ABBA01036596;AC012307;AF331843;AMYH02004325;BC007771;CH471207;DB475178;L11329;NM_004418;U23853 AAA50779;AAA86112;AAH07771;AAL57044;AAY24222;ACE87048;ACE87730;EAW71384;EAW71385;EAW71386;EAW71387;EAW71388;NP_004409;Q05923 Hs.1183 1678225;1794658 PMC343947P2;RH75846 PAC-1;PAC1 OTTHUMP00000161013;dual specificity protein phosphatase 2;dual specificity protein phosphatase PAC-1;dual-specificity phosphatase 2;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000158050 HGNC:3068 04348 603068 REVIEWED 1315821 DUSP18 dual specificity phosphatase 18 Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP18 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009] 22 22 22 q12.2 14858124 14863957 - 31058039 31063874 - 30662052 30667890 - 1580863;6480464 12408986;12477932;12591617;14702039;15461802;15489334;16699184;16720344;19228121;24250222 150290 C9JEE9;F2Z2P2;F8VX42;H7C401;Q8NEJ0 ABBA01055304;AC003072;AF461689;AF533017;AI699242;AK025036;AK056074;AMYH02038219;BC004110;BC028724;BC030987;CH471095;CR456406;NM_152511;XM_005261366;XM_005261367;XM_005261368;XM_006724148 AAH30987;AAN59787;AAN77931;BAG51616;CAG30292;CAK54395;CAK54694;EAW59913;EAW59914;EAW59915;NP_689724;Q8NEJ0;XP_005261423;XP_005261424;XP_005261425;XP_006724211 Hs.517544 1795710 DUSP18_1482 DSP18;DUSP20;LMWDSP20;MGC32658;bK963H5.1 LMW-DSP20;OTTHUMP00000199179;OTTHUMP00000199181;OTTHUMP00000199182;OTTHUMP00000199183;OTTHUMP00000199204;OTTHUMP00000199205;OTTHUMP00000199206;OTTHUMP00000199207;dual specificity protein phosphatase 18;low molecular weight dual specificity phosphatase 20 APPROVED protein-coding ENSG00000167065 HGNC:18484 13253 611446 VALIDATED 1343692 DUSP21 dual specificity phosphatase 21 This gene encodes a member of the dual specificity phosphatase family, specifically the low molecular weight dual specificity phosphatase family. The encoded protein localizes to both the cytoplasm and the nucleus and functions to remove phosphate groups from phosphotyrosine and phosphothreonine residues.[provided by RefSeq, Mar 2009] X X X p11.4-p11.23 48840019 48840904 + 44703249 44704134 + 44844003 44844888 + 6480464 12408986;12477932;15489334;15772651;21832049;21900206;23929653 63904 Q9H596 AA813372;ABBA01046304;AF143321;AF533018;AL133545;AMYH02039246;AY121807;AY156515;BC119755;BC119756;CH471141;CR457159;NG_013231;NM_022076 AAD33910;AAI19756;AAI19757;AAM82755;AAN59788;AAO17295;CAG33440;EAW59369;NP_071359;Q9H596 Hs.534478 1797488;2172831;2176259 DUSP21_1846;RH16599;SHGC-33596 LMWDSP21;MGC149878 BJ-HCC-26 tumor antigen;LMW-DSP21;OTTHUMP00000023174;dual specificity protein phosphatase 21;low molecular weight dual specificity phosphatase 21 APPROVED protein-coding ENSG00000189037 HGNC:20476 06494 300678 REVIEWED 732954 DUSP1 dual specificity phosphatase 1 The expression of DUSP1 gene is induced in human skin fibroblasts by oxidative/heat stress and growth factors. It specifies a protein with structural features similar to members of the non-receptor-type protein-tyrosine phosphatase family, and which has significant amino-acid sequence similarity to a Tyr/Ser-protein phosphatase encoded by the late gene H1 of vaccinia virus. The bacterially expressed and purified DUSP1 protein has intrinsic phosphatase activity, and specifically inactivates mitogen-activated protein (MAP) kinase in vitro by the concomitant dephosphorylation of both its phosphothreonine and phosphotyrosine residues. Furthermore, it suppresses the activation of MAP kinase by oncogenic ras in extracts of Xenopus oocytes. Thus, DUSP1 may play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. [provided by RefSeq, Jul 2008] 5 5 5 q34 168227970 168231080 - 172195093 172198203 - 172768090 172771200 - 1580863;2293881;2298672;2298690;2298693;2298673;2298676;2298697;2298698;2298678;2301725;2298677;2298694;633769;2298695;6480464;6907045;7240533;7495850;7495852;7771579;7771582;7495851;7771531;7771580;7771581;7771535;7771546;7771583;7771533;7771572;5133675;7771584;7495849;7771532;7771547;5129167;7771544;7771538;728656;7771536;7495809;7771540;7771574 11027531;11758828;12432554;12487923;12618338;15242861;16515552;16814733;17063547;17208316;17601561;17647144;17690186;18630599;18804122;19347983;19383246;19417026;20626350;20837666;20953200;21094639;21471446;22197701;22333693;22461024;22540262;22610099;22901764;22924482;23076500;23392662;23892499;7485483;8587253;8626780;8883936;9010448;9231829;9546380;9724088 10022904;10617468;11062068;11278799;11359773;12080474;12356755;12391149;12477932;12506119;12676937;12765304;12890671;12947325;12960255;1406996;14551204;14680833;14702039;14724291;15059515;15173070;15247770;15339908;15448190;15489334;15569826;15590693;15614136;15677475;16044158;16081065;16224818;16286470;16289033;16293973;16387640;16951204;17073741;17131384;17489738;17560945;17638884;17681939;17761948;17848570;18003751;18089824;18095520;18178562;18314542;18367666;18403641;18434324;18441094;18477563;18490444;18519678;18723442;18726921;18782768;19020052;19032224;19117950;19262425;19411256;19553005;19604093;19648110;19697705;19724859;19755862;19793766;19797979;19913121;19940143;20043958;20089808;20100830;20145951;20228065;20353815;20375469;20555314;20628086;20673984;20689807;20708668;20803086;20805296;20829434;20868379;20890299;20936779;21060794;21454676;21507959;21547253;21610072;21715333;21733716;21803700;21840882;21906983;21959016;21960346;21963094;21987572;21988832;22014408;22020934;22200679;22301548;22505724;22743041;22797925;22991462;23030431;23097457;23149933;23169297;23333304;23625220;23728617;23825193;24080497;24086554;24155659;24267255;24308939;24339725;24578378;24692548;7535770;7593328;7806236;8106404;8168826;8221888;8389479;8390041;9571625;9599409 1843 B4DU40;P28562 AA843403;ABBA01044039;AC022217;AK298047;AK298658;AK299391;AK300487;AK304475;AK316321;AMYH02012758;BC022463;CH471062;CS300525;DQ301957;FJ695205;HI574182;NM_004417;U01669;X68277 AAH22463;ABB96250;BAG60344;BAG60826;BAG61376;BAG62202;BAG65288;BAH14692;CAA48338;CAK32189;CBX47580;EAW61425;EAW61426;NP_004408;P28562 Hs.171695 1743709;1795712;2125967;2136629;2157452;5022036 DUSP1_317;DUSP4;G06586;GDB:371394;UniSTS:30977;WI-22759 CL100;HVH1;MKP-1;MKP1;PTPN10 MAP kinase phosphatase 1;OTTHUMP00000216442;dual specificity protein phosphatase 1;dual specificity protein phosphatase hVH1;mitogen-activated protein kinase phosphatase 1;protein tyrosine phosphatase, non-receptor type 16;protein-tyrosine phosphatase CL100;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000120129 HGNC:3064 02835 600714 REVIEWED 1316661 DUSP19 dual specificity phosphatase 19 Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP19 contains a variation of the consensus DUSP C-terminal catalytic domain, with the last serine residue replaced by alanine, and lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009] 2 2 2 q32.1 177539400 177560844 + 183943287 183964736 + 183078559 183100008 + 1580863;2314491;6480464 11959862 11959861;12477932;12479873;14702039;15489334;15815621;19228121;19322201;21989941 142679 Q8WTR2 AB038770;AB063186;AB063187;ABBA01062310;ABBA01062311;AC064871;AF486808;AK094800;AK125657;AK314078;AMYH02005373;BC035000;BC093958;BC112005;BC143337;BX647818;CH471058;NM_001142314;NM_080876 AAH35000;AAH93958;AAI12006;AAO49450;AAY24197;ABM82132;ABM85315;BAB82499;BAB83498;BAB83499;BAG36776;EAX10949;EAX10950;EAX10951;NP_001135786;NP_543152;Q8WTR2 Hs.132237 1676081;5020881;5022450 D10S275;L17709;RH92337 DUSP17;LMWDSP3;MGC138210;SKRP1;TS-DSP1 LMW-DSP3;OTTHUMP00000163459;OTTHUMP00000205371;SAPK pathway-regulating phosphatase 1;dual specificity phosphatase TS-DSP1;dual specificity protein phosphatase 19;low molecular weight dual specificity phosphatase 3;protein phosphatase SKRP1;stress-activated protein kinase pathway-regulating phosphatase 1 APPROVED protein-coding ENSG00000162999 HGNC:18894 13254 611437 VALIDATED 1604602 DUSP26 dual specificity phosphatase 26 (putative) ENCODES a protein that exhibits p53 binding; phosphoprotein phosphatase activity; phosphoserine phosphatase activity; INVOLVED IN negative regulation of ERK1 and ERK2 cascade; negative regulation of protein kinase activity by regulation of protein phosphorylation; negative regulation of transcription from RNA polymerase II promoter; FOUND IN cytoplasm; extracellular vesicular exosome; Golgi apparatus; INTERACTS WITH all-trans-retinoic acid; hydrogen peroxide; thapsigargin 8 8 8 p12 32398523 32407113 - 33448848 33457546 - 33591330 33600028 - 6480464 12477932;14702039;15796912;16581800;16924234;17001450;17207965;19043453;19056867;20347885;20562916;20877624;23298255 78986 E5RHD0;Q9BV47 AB103376;AB158288;AB237597;ABBA01023606;ABBA01023607;ABBA01023608;AC013603;AK055704;AMYH02017770;AY902194;BC001613;BC003115;BC067804;CH471080;NM_024025;XM_005273633;XM_006716395 AAH01613;AAH03115;AAH67804;AAX07132;ADQ31661;BAB70991;BAD82942;BAD91015;BAE46506;EAW63392;EAW63393;EAW63394;NP_076930;Q9BV47;XP_005273690;XP_006716458 Hs.8719 1769271;2131197 RH15975;RH36053 DSP-4;DUSP24;LDP-4;MGC1136;MGC2627;MKP-8;MKP8;NATA1;SKRP3 MAP kinase phosphatase 8;Novel amplified gene in thyroid anaplastic cancer;OTTHUMP00000225470;OTTHUMP00000225530;dual specificity phosphatase SKRP3;dual specificity protein phosphatase 26;dual-specificity phosphatase SKRP3;low-molecular-mass dual-specificity phosphatase 4;mitogen-activated protein kinase phosphatase 8 protein-coding ENSG00000133878 HGNC:28161 14421 PROVISIONAL 1605823 DUSP28 dual specificity phosphatase 28 ENCODES a protein that exhibits protein tyrosine phosphatase activity (inferred); protein tyrosine/serine/threonine phosphatase activity (inferred); INVOLVED IN peptidyl-tyrosine dephosphorylation (inferred); protein dephosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH lead(0); lead(2+); methyl methanesulfonate 2 2 2 q37.3 235171673 235175633 + 241499471 241503431 + 240560054 240564014 + 6480464;8554872 12477932;19322201 285193 H7C234;Q4G0W2 ABBA01048873;AC124862;AMYH02006098;AX237020;BC036198;BG656420;BQ777661;CH471063;NM_001033575;XM_006712455;XM_006712456 AAH36198;CAC88290;EAW71192;NP_001028747;Q4G0W2;XP_006712518;XP_006712519 Hs.369297;Hs.672568 1781322;2140175;5015861;5017170;5022578;5022651;5037552;7185938 D10S16;D11S2921;D1S1423;D8S2279;G31178;L29953;RH70105 DUSP26;VHP OTTHUMP00000201460;OTTHUMP00000201461 protein-coding ENSG00000188542 HGNC:33237 18773 VALIDATED 1345861 DUSP3 dual specificity phosphatase 3 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. [provided by RefSeq, Jul 2008] 17 17 17 q21 38551496 38564369 - 41843489 41856368 - 43766121 43779000 - 1580863;6480464;6907045 10224087;11085983;11238845;11863439;12447358;12477932;1281549;12840032;14702039;15276183;15489334;16344560;16604064;17278098;17322878;17785772;18311544;18505570;19010898;19322201;21262974;21832049;21890473;21906983;21921027;21988832;22053931;23000965;23322772;23918168;24245651;24816145;7829067;7829094;7874108;7876121;7961745;8650541 1845 K7ELG5;K7EPK5;K7ES89;P51452 AB451424;ABBA01028400;AC003098;AC055813;AK055834;AK129822;AK226170;AL049417;AMYH02033463;BC002682;BC008286;BC035701;BQ575811;BQ652984;BT019522;BU177084;CH471178;DA075379;DA104250;DA167802;DB171573;L05147;NM_004090 AAA35777;AAH02682;AAH35701;AAV38329;ABM84048;ABM87398;BAG70238;EAW51667;EAW51668;NP_004081;P51452 Hs.181046 1657783;1730249;1748533;1768211;1795714;1855870;2130498;2132457;2137437;2149273;2163427;2181807;5110958;7186007 A006E16;D17S1216;D17S814E;DUSP3_588;HUM000S655;HUM0C12C02;RH48877;RH78942;SGC30031;SGC30297;SHGC-2457;STS-N24113;STS-N67742 VHR dual specificity protein phosphatase 3;dual specificity protein phosphatase VHR;serine/threonine specific protein phosphatase;vaccinia H1-related phosphatase;vaccinia virus phosphatase VH1-related APPROVED protein-coding ENSG00000108861 HGNC:3069 02553 600183 REVIEWED 1348525 DUSP4 dual specificity phosphatase 4 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq, Jul 2008] 8 8 8 p12-p11 28153208 28167802 - 29190579 29208267 - 29333062 29350750 - 1580863;2301725;6480464;6907045 11027531 10862698;11062068;11387337;12477932;15276183;15489334;16038800;16344560;17145763;17322878;17452331;18178562;19415758;19525976;19843478;20124482;20339536;20725992;20860659;21084841;21832049;21900206;21906983;21963094;22430215;22434910;22965873;23048029;23223570;23749251;23812841;23875912;23966295;24222120;24308939;7535768;8545112;8626452;8889548;9205128 1846 Q13115 ABBA01005616;AC084262;AI123616;AK314820;AL137704;AMYH02017697;BC002671;BC012900;BC014565;BG760517;BU742141;CH471080;DA645190;NM_001394;NM_057158;S80632;U21108;U48807 AAA85119;AAB35870;AAC50452;AAH02671;AAH14565;ACE86469;ACE87150;BAG37342;EAW63481;EAW63482;EAW63483;EAW63484;NP_001385;NP_476499;Q13115 Hs.417962 1647121;1735816;2150860;2155886;2164769;2185295;2217280 A004W39;D8S1424E;DUSP4_590.2;RH18016;RH36102;SGC35388;WI-22140 HVH2;MKP-2;MKP2;TYP MAP kinase phosphatase 2;OTTHUMP00000164576;OTTHUMP00000164577;VH1 homologous phosphatase 2;dual specificity protein phosphatase 4;dual specificity protein phosphatase hVH2;mitogen-activated protein kinase phosphatase 2;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000120875 HGNC:3070 04123 602747 REVIEWED 1314347 DUSP15 dual specificity phosphatase 15 The protein encoded by this gene belongs to the non-receptor class of the protein-tyrosine phosphatase family. The encoded protein has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 27205216 27214821 - 30435441 30458479 - 31861067 31870676 - 1580863;6480464 10737800;11780052;12477932;14702039;15138252;15489334;16170801;17207965;17474147;19322201;21139048;22792334 128853 H0Y5A2;Q5QP64;Q9H1R2 ABBA01019288;ABBA01019289;AI051640;AK091960;AL160175;AL732169;AMYH02036907;BC056911;BF377396;BI517878;BI560652;BI562598;BI829823;CH471077;NM_001012644;NM_080611;NM_177991 AAH56911;ADQ32528;BAG52450;EAW76409;EAW76410;NP_001012662;NP_542178;NP_817130;Q9H1R2 Hs.585017 1682938 RH98432 FLJ40111;VHY OTTHUMP00000030536;OTTHUMP00000030539;OTTHUMP00000214529;OTTHUMP00000214530;VH1-related member Y;dual specificity phosphatase-like 15;dual specificity protein phosphatase 15;vaccinia virus VH1-related dual-specific protein phosphatase Y 2316046 GLUCO192_H APPROVED protein-coding ENSG00000149599 HGNC:16236 13252 REVIEWED 1316166 DUSP22 dual specificity phosphatase 22 ENCODES a protein that exhibits protein tyrosine phosphatase activity (inferred); protein tyrosine/serine/threonine phosphatase activity (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN mitogen activated protein kinase signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene; cisplatin 6 6 6 p25.3 3913 4374 - 292101 351355 + 292057 351355 + 1580863;6480464;6907045;8554872 11717427;11733513;12138158;12477932;14574404;14702039;15138252;15252450;15489334;16344560;16636663;17068812;17384676;20018849;21030553;21139048;21988832;22796920;23000965;23337887;24250222;9205128 56940 Q9NRW4;S4R378;S4R3A4;S4R3K1;S4R3M1;S4R459 AB208997;ABBA01048669;ABBA01172973;AC243946;AF165519;AF424702;AK000383;AK074410;AK128760;AK296402;AK310653;AL365272;AY249859;BC009209;BC016844;BC022847;BX107497;BX362191;BX648953;CH878723;CS070345;DA950312;DB177174;DQ786251;NM_001286555;NM_020185;NR_104473;NR_104474;NR_104475 AAF86649;AAH16844;AAH22847;AAL18850;AAP76376;ABM84319;ABM87714;BAD92234;BAG59068;CAI93197;EAW53895;NP_001273484;NP_064570;Q9NRW4 Hs.29106 1655464;1680735;1760501;2217278 DUSP22_3037;RH66847;RH79882;SHGC-143473 FLJ35864;JKAP;JSP-1;JSP1;LMW-DSP2;LMWDSP2;MKP-x;MKPX;VHX JNK-stimulating phosphatase 1;JNK-stimulatory phosphatase-1;MAP kinase phosphatase x;OTTHUMP00000015938;dual specificity protein phosphatase 22;homolog of mouse dual specificity phosphatase LMW-DSP2;low molecular weight dual specificity phosphatase 2;mitogen-activated protein kinase phosphatase x protein-coding ENSG00000112679 HGNC:16077 13255 VALIDATED 1602255 DUSP5P1 dual specificity phosphatase 5 pseudogene 1 INTERACTS WITH all-trans-retinoic acid; valproic acid 1 1 1 q42.13 202050331 202055658 + 228780657 228788159 + 228644910 228652412 + 6480464 14702039 574029 Q96N51 ABBA01013454;AK055963;AK092260;AL713899;AMYH02002860;NR_002834 BAB71058;BAC03838 Hs.647777;Hs.719678 DUSP5P;FLJ31401;FLJ34941;RP4-621O15.2 APPROVED pseudo HGNC:32020 PROVISIONAL 1602492 DUS4L dihydrouridine synthase 4-like (S. cerevisiae) ENCODES a protein that exhibits flavin adenine dinucleotide binding (inferred); tRNA dihydrouridine synthase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); tRNA dihydrouridine synthesis (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; copper(2+) sulfate 7 7 7 q22-q31 102009704 102024239 + 107204402 107218968 + 107563957 107578523 + 6480464 12477932;12690205;14499622;15489334;16344560;20237496;21068099;8889549 11062 A4D0R5;F2Z2E4;F8WEL2;F8WFE3;O95620 AA157330;ABBA01057907;AC002381;AC004839;AK127802;AK294095;AK297195;AK308472;AL523141;AL529385;AMYH02016516;AW954755;BC111774;BG250736;BQ771928;BU621752;BX357552;BX395100;CH236947;CH471070;CX787147;DA133130;DA223301;DB196544;NM_001270419;NM_181581;NR_073002;NR_073003;NR_073004;NR_073005;U62767;XM_005250125;XM_006715844;XM_006715845 AAD00100;AAI11775;BAG57433;BAG59682;EAL24391;EAW83399;EAW83400;EAW83401;EAW83402;EAW83403;EAW83404;NP_001257348;NP_853559;O95620;XP_005250182;XP_006715907;XP_006715908 Hs.97627 1652252;1854575;2138176;2219544;5015961;5037552 A007D21;D15S1477;D8S2279;PP35__5752;RH11946;RH12603 DUS4;MGC133233;PP35 2310069P03Rik;OTTHUMP00000206621;protein similar to E.coli yhdg and R. capsulatus nifR3;tRNA-dihydrouridine synthase 4-like;tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like protein-coding ENSG00000105865 HGNC:21517 17886 VALIDATED 731297 DUSP6 dual specificity phosphatase 6 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014] 12 12 12 q22-q23 89413532 89417991 - 89741837 89746296 - 89348060 89352519 - 728656;1580863;2293881;2316089;2316092;6480464;6907045;7771531;7771585;7771536;2301725;7495809;8699517;7240710;8554872 10908038;11027531;12618338;15496935;17208316;21471446;22901764;24155322;8626780 10048930;10846176;11359773;11998972;12477932;12759238;12840032;14690430;14702039;15269220;15276183;15489334;15632084;15766528;15824892;15832194;16189514;16344560;16491131;17131384;17322878;17569113;18255255;18280112;18434601;18632752;18644985;18694935;18771677;18848526;19091959;19106095;19328558;19608870;19913121;20097731;20554528;20628086;20638106;20665674;20800603;20806045;21145461;21387288;21454500;21499306;21610072;21680106;21906983;22028468;22155192;22169769;22171919;22504224;22535643;22744456;22812510;22848708;23023500;23108049;23132790;23246965;23419500;23602568;23839489;23965468;24222120;8125298;8670865;9205128;9535927;9788880;9858808 1848 F8VW29;F8VZA4;Q16828;Q53GP9 AB013382;AB013601;AB013602;AB189400;AB451265;AB451393;ABBA01053420;AC024909;AK091753;AK222882;AMYH02026904;AU135449;BC003143;BC003562;BC005047;BC037236;BF087219;BT006895;CH471054;DA105027;HI179184;KF459551;NG_033915;NM_001946;NM_022652;X93920 AAH03143;AAH03562;AAH05047;AAH37236;AAP35541;ABM83416;ABM86627;BAA31968;BAA31969;BAA34369;BAD38886;BAD96602;BAG70079;BAG70207;CAA63813;CBX53900;EAW97422;EAW97423;EAW97424;NP_001937;NP_073143;Q16828 Hs.298654;Hs.718640 1646367;1647227;2162120;2217282;5024095 D12S1400;D12S1567;DUSP6_594;WI-14395;WI-18566 HH19;MKP3;PYST1 MAP kinase phosphatase 3;OTTHUMP00000242453;OTTHUMP00000242454;dual specificity protein phosphatase 6;dual specificity protein phosphatase PYST1;mitogen-activated protein kinase phosphatase 3;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000139318 HGNC:3072 04124 602748;615269 REVIEWED 1319412 DUSP23 dual specificity phosphatase 23 ENCODES a protein that exhibits protein tyrosine phosphatase activity (inferred); protein tyrosine/serine/threonine phosphatase activity (inferred); INVOLVED IN peptidyl-tyrosine dephosphorylation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 4-nitrophenyl phosphate; benzo[a]pyrene; cisplatin 1 1 1 q23.2 132819186 132820760 + 159750730 159752333 + 159780940 159782543 + 1580863;6480464 12477932;14702039;15147733;15201283;15281913;15489334;16169070;16710414;18029348;19913121;20453000;20509867;20628086;20855292;21787189;21900206;22939635;23824909 54935 Q9BVJ7 AB164404;ABBA01016618;AF086553;AK000449;AL590560;AMYH02002018;AX482482;BC001140;CH471121;NM_017823;XM_005245289 AAH01140;ADZ16063;BAA91172;BAD12141;CAD44455;EAW52775;NP_060293;Q9BVJ7;XP_005245346 Hs.425801 DUSP25;FLJ20442;LDP-3;MOSP;RP11-190A12.1;VHZ OTTHUMP00000024412;OTTHUMP00000024413;OTTHUMP00000033306;VH1-like member Z;VH1-like phosphatase Z;dual specificity protein phosphatase 23;low molecular mass dual specificity phosphatase 3;low-molecular-mass dual-specificity phosphatase 3 protein-coding ENSG00000158716 HGNC:21480 07908 VALIDATED 1345576 DUSP5 dual specificity phosphatase 5 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. [provided by RefSeq, Jul 2008] 10 10 10 q25 105989248 106002922 + 112257625 112271302 + 110497867 110511544 + 1580863;2317872;2317873;6480464;6907045 12503083;16940436 12477932;12944906;15489334;15713638;16385451;17078075;17131384;18430737;18927432;19322201;19666109;19801501;19913121;20554528;20628086;20628624;20806045;21906983;22812510;23402999;23850713;24308939;7806236;7829101;7836374;7961985 1847 Q16690;Q59EI8 AB209823;ABBA01063028;ABBA01063029;AL355512;AMYH02023796;BC062545;BF979291;BI495660;CB991409;CH471066;NM_004419;U15932;U16996 AAA64693;AAB06261;AAH62545;ACE86455;ACE87136;BAD93060;EAW49559;EAW49560;NP_004410;Q16690 Hs.2128 1643744;1658607;1781072;1795716;2167199;2177284;2191301 D10S2186;DUSP5_592;MARC_17213-17214:1023894705:1;RH68124;SGC30304;STS-U15932;bac5980S DUSP;HVH3 OTTHUMP00000020476;VH1-like phosphatase 3;dual specificity protein phosphatase 5;dual specificity protein phosphatase hVH3;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000138166 HGNC:3071 04349 603069 REVIEWED 1350641 DUSP8P1 dual specificity phosphatase 8 pseudogene 1 10 q11.22 48963054 48966662 + 9192849 1851;728813 AL731733;NG_022176;XM_291738 DUSP8P APPROVED pseudo HGNC:3075 INFERRED 7206878 DUSP8P2 dual specificity phosphatase 8 pseudogene 2 10 q11.22 48173345 48175106 - 728725 BX547991;NG_022145 pseudo HGNC:45001 INFERRED 7083547 DUSP5P2 dual specificity phosphatase 5 pseudogene 2 3 3 3 p25.3 9578087 9579104 + 9643378 9644409 + 9601694 9602725 + 643459 ABBA01020406;AC026194;AMYH02006234;AMYH02006235;NG_022237 1788694;2112700;2112716 D3S4410;D3S4420;RH135806 pseudo HGNC:44482 INFERRED 1603599 DUSP27 dual specificity phosphatase 27 (putative) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid (ortholog); dibutyl phthalate (ortholog); paracetamol (ortholog) 1 1 1 q22-q24 140169211 140203525 + 167063314 167098402 + 167094077 167129165 + 6480464;8554872 12477932;14702039;19536175;20379614;20520587;21543850 92235 Q5VZP5 ABBA01047252;ABBA01047253;AF119045;AK094814;AL158837;AMYH02002082;AMYH02002083;AMYH02002084;BC115387;NM_001080426;XM_005245603 AAI15388;AAK02011;NP_001073895;Q5VZP5;XP_005245660 Hs.632462 1687369 RH92674 OTTHUMP00000032345;inactive dual specificity phosphatase 27 protein-coding ENSG00000198842 HGNC:25034 PROVISIONAL 5131596 DUTP1 deoxyuridine triphosphatase pseudogene 1 3 3 q21.2 125029742 125030188 + 125310898 125311344 + 548637 ABBA01016425;AC108688;AMYH02007573;NG_028739 DUTL pseudo HGNC:31956 INFERRED 7206951 DUSP8P4 dual specificity phosphatase 8 pseudogene 4 10 10 10 q11.22 2025 3786 - 47254247 47256008 + 46774419 46776180 - 728657 AL391137;AL731733;BX547991;NG_022174 DUSP8P2 pseudo HGNC:45002 INFERRED 6481453 DUTP2 deoxyuridine triphosphatase pseudogene 2 8 8 124364547 124364885 + 123352307 123352645 + 100873909 ABBA01037873;AC021305;AMYH02018703;NG_032312 pseudo HGNC:39515 INFERRED 1350752 DUSP7 dual specificity phosphatase 7 Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP7 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see MIM 601795), JNK (see MIM 601158), and p38 (see MIM 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see MIM 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009] 3 3 3 p21 52062259 52069785 - 52082935 52090461 - 52048919 52056445 - 728656;1580863;6480464;6907045 8626780 12477932;12907755;14576828;14603440;14674243;15081539;15146197;15276183;15489334;17322878;19228121;19322201;21900206;21906983;8670865;9205128;9788880 1849 H7C4Z0;Q16829 ABBA01024515;AC115284;AF508727;AF508728;AL110157;AMYH02006797;BC019107;BC104880;BC104882;BC128064;CH471055;CN429806;DN999200;NM_001947;X93921 AAH19107;AAI04881;AAI04883;AAM77606;CAA63814;EAW65184;NP_001938;Q16829 Hs.591664 2108039;2163384;2163386;2170288 A001V12;DUSP7_7785;G19679;RH11772 DKFZp586F2224;MKPX;PYST2 OTTHUMP00000212488;dual specificity protein phosphatase 7;dual specificity protein phosphatase PYST2;dual-specificity phosphatase-7 APPROVED protein-coding ENSG00000164086 HGNC:3073 04125 602749 VALIDATED 1315032 DUSP8 dual specificity phosphatase 8 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 1612536 1630385 - 1575281 1593150 - 1554051 1571920 - 1580863;2293881;6480464;6907045 17208316 12477932;13129832;14702039;15899389;17081983;21900206;22100391;23602568;7561881;8889548;9192849 1850 Q13202 ABBA01012147;ABBA01012148;ABBA01012149;AC211344;AK124467;AK124948;AMYH02024171;AP006285;BC038231;BC045110;BU740880;CH471158;NM_004420;U27193 AAA83151;AAH38231;AAH45110;BAC85857;BAC86004;EAX02451;EAX02452;NP_004411;Q13202 Hs.41688 5019186;5124715 RH103770;RH70588 C11orf81;FLJ42476;FLJ42958;HB5;HVH-5;HVH8 H1 phosphatase, vaccinia virus homolog;OTTHUMP00000164487;dual specificity protein phosphatase 8;dual specificity protein phosphatase hVH-5;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000184545 HGNC:3074 03617 602038 REVIEWED 1349758 DUT deoxyuridine triphosphatase This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. [provided by RefSeq, Jul 2008] 15 15 15 q21.1 25516088 25528037 + 48623215 48635570 + 48331167 48343373 + 1580863;2300191;5133680;6480464;6907045 16325515;3032103 1091006;10910061;11118321;12096336;12369926;12374095;12477932;12799180;1325640;15489334;15604093;15629463;16189514;17081983;17848562;17880943;18464913;18781797;19015155;19060904;19302784;19403629;19879316;19968781;20560137;20877624;21139048;21145461;21780905;21890473;21906983;22053931;22172489;22863883;22939629;22944692;23894549;24311590;8389461;8631816;8631817;8805593;8910358;9070952;9228092 1854 H0YKC5;H0YKI0;H0YMM5;H0YMP1;H0YNJ9;H0YNW5;P33316 AB049113;ABBA01039141;AC023355;AF018429;AF018432;AK000629;AK291515;AK298464;AK312122;AMYH02030388;AY935242;BC033645;BC070339;BC110377;BF697257;BG505144;BG532018;BI257870;CH471082;CR541720;CR541781;L11877;M89913;NG_029497;NM_001025248;NM_001025249;NM_001948;U31930;U62891;U90223;U90224;XM_005254211 AAA36801;AAA58444;AAB71393;AAB71394;AAB93866;AAB93867;AAB94642;AAC50418;AAC51123;AAH33645;AAH70339;AAI10378;AAX14045;ABM82117;ABM85301;BAB13724;BAF84204;BAG35058;BAG60677;CAG46521;CAG46580;EAW77349;EAW77350;EAW77351;EAW77352;NP_001020419;NP_001020420;NP_001939;P33316;XP_005254268 Hs.527980 1666154;1675748;1690594;1724537;2138753;2172006 M89913;RH122528;RH39501;RH92298;SHGC-36316;WI-17558 FLJ20622 dUTP nucleotidohydrolase;dUTP pyrophosphatase;dUTPase;deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial APPROVED protein-coding ENSG00000128951 HGNC:3078 03165 601266 REVIEWED 6481456 DUTP5 deoxyuridine triphosphatase pseudogene 5 6 6 86136372 86136856 - 85426654 85427138 - 100873911 ABBA01040476;AL135903;AMYH02014038;NG_032314 pseudo HGNC:39518 INFERRED 6481457 DUTP4 deoxyuridine triphosphatase pseudogene 4 X X 148898834 148899310 + 149817172 149817648 + 100873910 ABBA01027307;AC232272;AC244098;NG_032313 pseudo HGNC:39517 INFERRED 6481458 DUTP6 deoxyuridine triphosphatase pseudogene 6 1 1 166837971 166838444 + 166868734 166869207 + 100873912 ABBA01047257;AL008639;AMYH02002079;NG_032315 pseudo HGNC:39519 INFERRED 1345424 DUSP9 dual specificity phosphatase 9 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product shows selectivity for members of the ERK family of MAP kinases, is expressed only in placenta, kidney, and fetal liver, and is localized to the cytoplasm and nucleus. [provided by RefSeq, Jul 2008] X X X q28 153141581 153150465 + 152907897 152916781 + 153642443 153651326 + 1302383;1580863;6480464;6907045;7240533 20626350;9286695 11988087;12477932;15772651;18006813;18029348;20581827;21139048;21206059;21906983;21908610;21943117;21963094;21988832;22678362;22961080;23029454;23276385;23383273;23602568;23891004;23945395;9030581 1852 B2RAL9;Q99956 ABBA01045373;AI253132;AK314250;AMYH02040838;AMYH02040839;AX399836;BC034936;BC042166;BC060837;CH471172;HC250955;HC311144;KF459508;KF510176;NM_001395;U52111;U87167;XM_005274655;Y08302 AAB47559;AAH34936;AAH42166;AAH60837;BAG36916;CAA69610;CAD33280;CBJ05775;CBJ21227;EAW72847;EAW72848;EAW72849;NP_001386;Q99956;XP_005274712 Hs.144879;Hs.744909 1644022;1795718;2152845 A005O13;DUSP9_319;RH70965 MKP-4;MKP4 OTTHUMP00000025951;OTTHUMP00000025953;OTTHUMP00000044049;dual specificity protein phosphatase 9;map kinase phosphatase 4;mitogen-activated protein kinase phosphatase 4;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000130829 HGNC:3076 02136 300134 REVIEWED 6481460 DUTP7 deoxyuridine triphosphatase pseudogene 7 4 4 52731219 52731701 - 51865053 51865535 - 100873913 ABBA01003373;AC027271;AMYH02009194;NG_032316 pseudo HGNC:39520 INFERRED 6481381 DUTP8 deoxyuridine triphosphatase pseudogene 8 4 4 98969706 98970191 + 98048555 98049040 + 100873914 ABBA01063650;AC073855;AMYH02009783;NG_032317 pseudo HGNC:39521 INFERRED 1351513 DUSP8P3 dual specificity phosphatase 8 pseudogene 3 10 q11.22 46773447 46775208 + 7806236;9192849 441554 ABBA01156967;AL603982;AL731733;AMYH02022930;BX547991;NG_022173 DUSP8P;DUSP8P1;DUSPP;HVH4 APPROVED pseudo HGNC:3077 INFERRED 1606352 DUX4C double homeobox 4c ENCODES a protein that exhibits transcription regulatory region sequence-specific DNA binding; INVOLVED IN cell proliferation; positive regulation of transcription from RNA polymerase II promoter; regulation of gene expression; FOUND IN nucleus q35.2 6480464 10433963;7490072;7903581;7987304 554045 Q13060;Q14546 AF146191;AY500824;L32607;NM_001023569;NM_001099853;U18977 AAA83546;AAA87408;AAS15569;NP_001018863;NP_001093323;Q13060;Q14546;Q6RFH8 protein-coding 18689 615581 1344048 DUX4L1 double homeobox 4 like 1 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014] 4 4 4 q35 188235231 188238428 - 191005470 191006849 + 190084315 190085694 + 1580863;6480464 10433963;11245978;12477932;12606045;15709750;16086272;17588759;17668377;17984056;18833193;19359275;19404400;19756142;19829708;19837261;19837262;20301616;20724583;21060811;21110847;21288772;21446026;21529284;21984394;22053214;22072439;22209328;22508491;22522912;22536400;22796148;22798623;23108159;23143600;23196547;23206257;23272181;23284062;23560660;23593020;23644600;23717650;23821646;23887164;24030947;24116060;24278031;24589735;24636994;7739628 22947 P0CJ85;P0CJ86;P0CJ88;P0CJ89;P0CJ90;Q9UBX2 AC126281;NG_034172;NM_033178 NP_149418 DUX10;DUX4 OTTHUMP00000220042;double homeobox protein 10;double homeobox protein 4;double homeobox protein 4/10;double homeobox protein DUX10;double homeobox, 4 APPROVED pseudo ENSG00000258389 HGNC:3082 16189 606009 INFERRED 1348612 DUX1 double homeobox 1 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX1, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008] 1580863 11245978;15709750;9736770 26584 O43812;Q96PT3 ABBA01005161;AJ001481;AJ001636;NM_012146 AAI56918;CAA04776;NP_036278;O43812 Hs.274469 double homeobox protein 1;double homeobox, 1 APPROVED protein-coding HGNC:3079 10609 611441 PROVISIONAL 1348066 DUX3 double homeobox 3 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX3, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008] 11245978;20467438 26582 Q96PT4 AF133130;NM_012148 AAD33597;AAI52799;AAL02242;NP_036280;Q96PT4 double homeobox, 3;putative double homeobox protein 3 APPROVED protein-coding HGNC:3081 18588 611443 PROVISIONAL 8663052 DUX4 double homeobox 4 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of this gene from standard cDNA libraries, however, RT-PCR and in vitro expression experiments indicate that the ORF is transcribed. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014] 4 4 112605 114676 + 190173774 190175845 + 6480464 10433963;11245978;15709750;17588759;17668377;17984056;19320656;19359275;20301616;20724583;21060811;23966205;24145033;7739628 100288687 ABBA01017880;AC215524;AMYH02010730;HM190165;HM190172;HM190173;HM190174;HM190175;HM190176;HM190178;HM190179;HM190180;HM190181;HM190182;HM190184;HM190185;HQ266760;HQ266761;HQ266762;HQ266765;NG_034189;NM_001293798;NR_038191;XR_426490;XR_431831 AAI60122;ADK24682;ADK24686;ADK24694;ADK24701;ADK24702;ADK24703;ADK24704;ADK24705;ADK24707;ADK24708;ADK24709;ADK24710;ADK24711;ADN68615;ADN68616;ADN68617;NP_001280727;Q9UBX2 Hs.728749 DUX4L double homeobox 4-like;double homeobox protein 10;double homeobox protein 4;double homeobox protein 4/10 protein-coding ENSG00000260596 HGNC:50800 606009 VALIDATED 4109138 DUX4L13 double homeobox 4 like 13 10 10 q26.3 135490476 135491849 + 133753151 133754524 + 100289581 AL732375;NG_012773 pseudo HGNC:38672 INFERRED 4109168 DUX4L14 double homeobox 4 like 14 10 10 q26.3 135493786 135495159 + 133756461 133757834 + 10433963;19359275 728022 ABBA01039642;AL732375;FJ439133;NG_012778 ACN62209;ACP30487;ACP30488 pseudo HGNC:38673 INFERRED 5686985 DUTP3 deoxyuridine triphosphatase pseudogene 3 7 7 q35 146843364 146843852 + 147146272 147146760 + 12853948 100861485 ABBA01033580;AC092676;AMYH02017006;NG_032032 pseudo HGNC:39516 INFERRED 4109167 DUX4L16 double homeobox 4 like 16 Y Y q11.21 13462499 13463867 + 11306823 11308191 + 15653831 728169 ABBA01016863;ABBA01016864;AC134882;NG_021937 DUXY1 pseudo HGNC:37719 INFERRED 4108602 DUX4L17 double homeobox 4 like 17 INTERACTS WITH calcitriol; testosterone Y Y q11.21 13470500 13471872 + 11314824 11316196 + 6480464 15653831;9847074 643001 ABBA01032187;AC134882;NG_028177 DUXY3 pseudo HGNC:37717 INFERRED 4108613 DUX4L10 double homeobox 4 like 10 10 10 q26.3 135480558 135481931 + 133743233 133744606 + 440013 ABBA01002881;ABBA01002882;AL732375;NG_012775 DUX10 pseudo HGNC:31354 INFERRED 4108608 DUX4L12 double homeobox 4 like 12 10 10 q26.3 135487177 135488550 + 133749852 133751225 + 440014 AL732375;NG_012776 pseudo HGNC:38671 INFERRED 4109086 DUX4L11 double homeobox 4 like 11 10 10 q26.3 135483868 135485241 + 133746543 133747916 + 399839 ABBA01002456;AL732375;NG_012779 pseudo HGNC:38687 INFERRED 4108603 DUX4L15 double homeobox 4 like 15 10 10 q26.3 135497085 135498458 + 133759760 133761133 + 10433963;19359275;21060811 440017 ABBA01003537;AL732375;NG_012777 pseudo HGNC:38674 INFERRED 8663113 DUX4L22 double homeobox 4 like 22 10 133677059 133678392 + 20724583 102723495 E0Z3H0 AL845259;NG_034167;XM_006718105 XP_006718168 pseudo HGNC:50803 INFERRED 4108601 DUX4L19 double homeobox 4 like 19 Y Y q11.21 13487910 13489283 + 11332234 11333607 + 15653831;9847074 643034 ABBA01039642;AC134882;NG_029033 DUXY4 pseudo HGNC:37718 INFERRED 8663018 DUX4L21 double homeobox 4 like 21 10 133680369 133681702 + 20724583 102723518 AL845259;NG_034166;XM_006718106 XP_006718169 pseudo HGNC:50802 INFERRED 8663002 DUX4L20 double homeobox 4 like 20 10 133683668 133685001 + 20724583 102723538 E0Z3H0 AL845259;AMYH02024103;NG_034165;XM_006718107;XM_006726523 XP_006718170;XP_006726586 pseudo HGNC:50801 INFERRED 8663099 DUX4L23 double homeobox 4 like 23 10 133673749 133675082 + 20724583 102723472 E0Z3H0 AL845259;NG_034168;XM_006718104 XP_006718167 pseudo HGNC:50804 INFERRED 8663009 DUX4L24 double homeobox 4 like 24 10 133670450 133671783 + 20724583 102723449 E0Z3H0 AL845259;AMYH02024097;AMYH02024098;AMYH02024099;AMYH02024100;NG_034169;XM_006718103;XM_006726525 XP_006718166;XP_006726588 pseudo HGNC:50805 INFERRED 8663252 DUX4L26 double homeobox 4 like 26 3 3 75718010 75720761 + 75668859 75671610 + 100996350 ABBA01030989;AC108724;AC245159;NG_034171;XM_003846668;XM_003960330;XM_005264778 XP_003846716;XP_003960379;XP_005264835 pseudo HGNC:50807 INFERRED 4109008 DUX4L18 double homeobox 4 like 18 Y Y q11.21 13477137 13478507 + 11321461 11322831 + 15653831;9847074 100132421 ABBA01032188;AC134882;NG_029032 DUXY2 pseudo HGNC:37716 INFERRED 4109174 DUX4L4 double homeobox 4 like 4 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014] 4 4 q35.2 191002176 191003549 + 190081021 190082394 + 6480464 10433963;11245978;17588759;17668377;17984056;7739628 441056 E2JJS1;P0CJ87 AC126281;NG_034176;NM_001177376 NP_001170847 OTTHUMP00000220043;double homeobox protein 4-like protein 4;double homeobox, 4-like pseudo ENSG00000258834 HGNC:38686 INFERRED 8663186 DUX4L25 double homeobox 4 like 25 10 133667151 133668484 + 20724583 102723423 AL845259;NG_034170;XM_006718102 XP_006718165 pseudo HGNC:50806 INFERRED 8663185 DUX4L27 double homeobox 4 like 27 12 12 12 p11.1 14169848 14171226 - 34361358 34362736 - 34208423 34209801 - 100131369 ABBA01031682;AC140847;AMYH02026320;NG_021684 pseudo HGNC:50808 INFERRED 4109143 DUX4L2 double homeobox 4 like 2 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014] 4 4 4 q35.2 188235231 188238428 - 191012063 191013442 + 190090908 190092287 + 6480464 10433963;11245978;17588759;17668377;17984056;19359275;7739628 728410 F5GZ66;G3V309;P0CJ85;P0CJ86;P0CJ88;P0CJ89;P0CJ90 AC126281;NG_034178;NM_001127386 NP_001120858 DUX4 OTTHUMP00000220041;double homeobox protein 4-like protein 2;double homeobox, 4-like pseudo ENSG00000259128 HGNC:37267 INFERRED 4108573 DUX4L6 double homeobox 4 like 6 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014] 4 4 4 q35.2 188235231 188238428 - 190995583 190996962 + 190074428 190075807 + 6480464 10433963;11245978;17588759;17668377;17984056;7739628;9736770 653544 F5GZ66;G3V309;P0CJ85;P0CJ86;P0CJ88;P0CJ89;P0CJ90 ABBA01039641;AC126281;NG_034175;NM_001127388;XM_006710245 NP_001120860;XP_006710308 OTTHUMP00000220038;double homeobox protein 4-like protein 6;double homeobox, 4-like pseudo ENSG00000258697 HGNC:37265 INFERRED 4108582 DUX4L5 double homeobox 4 like 5 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014] 4 4 4 q35.2 188235231 188238428 - 190998876 191000255 + 190077721 190079100 + 6480464 10433963;11245978;17588759;17668377;17984056;7739628 653545 P0CJ85;P0CJ86;P0CJ88;P0CJ89;P0CJ90 AC126281;AMYH02010732;NG_034191;NM_001127389;XM_006726416 NP_001120861;XP_006726479 OTTHUMP00000220040;double homeobox protein 4-like protein 5;double homeobox, 4-like pseudo ENSG00000259063 HGNC:38689 INFERRED 4108840 DUX4L8 double homeobox 4 like 8 (pseudogene) 4 q35.2 190987701 190990406 + 100287020 XR_078305 APPROVED pseudo HGNC:38670 611442 4108591 DUX4L7 double homeobox 4 like 7 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014] 4 4 q35.2 190992290 190993669 + 190071135 190072514 + 6480464 10433963;11245978;17588759;17668377;17984056;7739628 653543 P0CJ85;P0CJ86;P0CJ88;P0CJ89;P0CJ90 AC126281;NG_034174;NM_001127387 NP_001120859 OTTHUMP00000220039;double homeobox protein 4-like protein 7;double homeobox, 4-like pseudo ENSG00000277706 HGNC:37266 INFERRED 8662728 DUX4L9 double homeobox 4 like 9 ENCODES a protein that exhibits transcription regulatory region sequence-specific DNA binding; INVOLVED IN cell proliferation; positive regulation of transcription from RNA polymerase II promoter; regulation of gene expression; FOUND IN nucleus; INTERACTS WITH calcitriol; testosterone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 q35.2 26392 27746 - 190021408 190022762 - 6480464 10433963;10512680;15815621;18723017;19607661;19829708;20490329;21937448;24145033;7490072;7903581;7987304 100288711 Q6RFH8 AF146191;AMYH02010728;AY500824;CT476828;NG_027951;U18977;XR_133387 AAA87408;AAS15569 DUX4C APPROVED pseudo HGNC:33855 615581 INFERRED 4108596 DUX4L3 double homeobox 4 like 3 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014] 4 4 q35.2 191008763 191010142 + 190087608 190088987 + 6480464 10433963;11245978;17588759;17668377;17984056;7739628 653548 P0CJ85;P0CJ86;P0CJ88;P0CJ89;P0CJ90 AC126281;NG_034177;NM_001164467 NP_001157939 OTTHUMP00000220044;double homeobox protein 4-like protein 3;double homeobox, 4-like pseudo ENSG00000259034 HGNC:38688 INFERRED 1604882 DUXA double homeobox A Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 54706783 54722567 - 57663094 57678856 - 57151726 57167488 - 6480464;8554872 17005330;21732829 503835 A6NLW8 ABBA01020817;ABBA01020818;AC025588;AMYH02036507;AMYH02036508;NM_001012729 A6NLW8;NP_001012747 Hs.585857 1335633;1664627;5014051;5016478;5022200;5022463;5022651 D11S2921;D19S254;D3S1673;D8S2278;GDB:434012;L17815;L18426 OTTHUMP00000244252;double homeobox protein A APPROVED protein-coding HGNC:32179 10619 611168 VALIDATED 1350894 DUX4L8 double homeobox 4 like 8 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014] 4 4 q35.2 190988993 190990372 + 190067838 190069217 + 1580863 10433963;11245978;17668377;17984056;7739628;9736770 26583 O75505 AC126281;AMYH02010728;NG_034173;NM_012147;U85056 NP_036279 DUX2;DUX4L8 double homeobox protein 2;double homeobox, 2;putative double homeobox protein 2 APPROVED pseudo ENSG00000250537 HGNC:38670 18589 611442 INFERRED 1353640 DUX5 double homeobox 5 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX5, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008] 3 75718003 75718593 + 11245978;15709750;9736770 26581 Q96PT3 ABBA01018524;AF133131;NM_012149 AAD33598;AAI52798;AAL02243;NP_036281;Q96PT3 DUX1 double homeobox protein 1;double homeobox protein 5;double homeobox, 5 APPROVED protein-coding HGNC:3083 18587 611444 VALIDATED 1605467 DUXAP2 double homeobox A pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 8 8 8 q22.3 98563508 98564217 - 102378566 102379275 - 101366338 101367047 - 503631 ABBA01037591;AC011028;AMYH02018513;AP001208;NG_004842 APPROVED pseudo HGNC:32181 INFERRED 1602610 DUXAP3 double homeobox A pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 39244116 39247548 - 43240720 43244152 - 42745272 42748704 - 503632 ABBA01049992;AL022344;AMYH02022702;NG_007339 APPROVED pseudo HGNC:32182 INFERRED 1605466 DUXAP4 double homeobox A pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41554234 41555846 + 45551062 45552674 + 45055614 45057226 + 503633 ABBA01050024;AL390758;AMYH02022732;NG_004843 APPROVED pseudo HGNC:32183 INFERRED 1605465 DUXAP5 double homeobox A pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 116475606 116476923 - 119314947 119316264 - 119444237 119445554 - 503634 ABBA01039669;AMYH02025669;AP003396;NG_004844 APPROVED pseudo HGNC:32184 INFERRED 1605468 DUXAP1 double homeobox A pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 2 2 2 p11.2 84806639 84807173 + 84977851 84978385 + 84750727 84751261 + 503630 ABBA01075726;AC010087;AMYH02004158;NG_004841 APPROVED pseudo HGNC:32180 INFERRED 1605461 DUXAP9 double homeobox A pseudogene 9 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 460 2727 - 19881382 19883648 - 19104058 19106324 + 17005330 503638 AL589182;AMYH02028796;NG_004839 APPROVED pseudo HGNC:32188 INFERRED 2306720 DUXB double homeobox B q23.1 17005330;17668377 100033411 AC025287 protein-coding HGNC:33345 1605464 DUXAP6 double homeobox A pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 69236530 69237566 + 92824668 92825704 + 92281438 92282474 + 503635 ABBA01053090;AC116903;AMYH02031070;NG_004845 APPROVED pseudo HGNC:32185 INFERRED 1605460 DUXAP10 double homeobox A pseudogene 10 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 14 14 q11.2 19691736 19694003 + 19293703 19295970 - 12477932;14702039;17005330 503639 AK022914;AL589743;AL929602;AMYH02028786;BC066547;NR_110526;XR_132758;XR_253227;XR_432951;XR_432952 AAH66547 Hs.659013;Hs.744284 FLJ12852;FLJ31573 APPROVED pseudo ENSG00000279508 HGNC:32189 VALIDATED 1605462 DUXAP8 double homeobox A pseudogene 8 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 460 2727 - 16149173 16151440 - 15826523 15828790 + 14702039;16344560;17005330 503637 ABBA01195120;AK056135;AMYH02037967;AP000525;AP000526;AP000527;DA439348;NR_122113 Hs.744284 APPROVED pseudo HGNC:32187 VALIDATED 1348473 DVL1P1 dishevelled segment polarity protein 1 pseudogene 1 INVOLVED IN intracellular signal transduction (inferred); Wnt signaling pathway (inferred); ASSOCIATED WITH DiGeorge Syndrome; FOUND IN cytoplasm (inferred) 22 22 22 q11.21 3092760 3093108 - 19240644 19240992 - 19253121 19253469 - 1580898;1580863 8644734 10591208;12384700;16604061;19643732;20639201;8817329;9192851 8215 P54792 ABBA01005421;AC000094;AMYH02038037;NG_009878;NG_033805;U46462 DSH;DVL;DVL-22;DVL1;DVL1L1;DVL4 APPROVED pseudo HGNC:3085 601225 INFERRED 1352825 DWS dandy-walker syndrome ASSOCIATED WITH Dandy-Walker Syndrome (inferred) 7240710 1858 HGNC:3088 220200 1605463 DUXAP7 double homeobox A pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 20 20 20 p11.23 18697033 18698380 - 18622954 18624291 - 18642310 18643647 - 503636 ABBA01054053;AL121900;AMYH02036783;NG_004846 APPROVED pseudo HGNC:32186 INFERRED 1348619 DXO decapping exoribonuclease This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. The function of its protein product is unknown, but its ubiquitous expression and conservation in both simple and complex eukaryotes suggests that this may be a housekeeping gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33537350 33539794 - 31937588 31940032 - 31969811 31972290 - 1580863;6480464;8554872 10072631;10686478;12477932;14574404;14656967;14667819;15231747;15489334;19204726;19913121;20628086;23263863;23455924;23523372;23535732;9799600 1797 F8WC68;H7C5D2;O77932 ABBA01038100;AF019413;AF059252;AF059253;AF059254;AL049547;AL645922;AL662849;AL844853;AMYH02013456;BC009344;BC019083;BC030235;BC050618;BC058885;BC071651;CH471081;CR753822;CR753845;CR759782;NM_005510;XM_006715005;XM_006715006;XM_006715007;XM_006725474;XM_006725475;XM_006725476;XM_006725688;XM_006725689;XM_006725690;XM_006725898;XM_006725899;XM_006725900;XM_006725985;XM_006725986;XM_006725987;XM_006726078;XM_006726079;XM_006726080;XR_427826;XR_430856;XR_430934;XR_430935;XR_430996;XR_431013;XR_431043 AAB67983;AAC78603;AAC78604;AAC78605;AAH09344;AAH19083;ABM83967;ABM87283;CAB89305;CAB89306;EAX03558;EAX03559;EAX03560;EAX03561;EAX03562;EAX03563;EAX03564;EAX03565;NP_005501;O77932;XP_006715068;XP_006715069;XP_006715070;XP_006725537;XP_006725538;XP_006725539;XP_006725751;XP_006725752;XP_006725753;XP_006725961;XP_006725962;XP_006725963;XP_006726048;XP_006726049;XP_006726050;XP_006726141;XP_006726142;XP_006726143 Hs.153299 2178940;5022012 DOM3Z;WI-16314 DOM3L;DOM3Z;NG6;RAI1 OTTHUMP00000029408;OTTHUMP00000029410;OTTHUMP00000174711;OTTHUMP00000216105;decapping and exoribonuclease protein APPROVED protein-coding ENSG00000204348 HGNC:2992 16186 605996 REVIEWED 1318833 DVL3 dishevelled segment polarity protein 3 This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008] 3 3 3 q27 182315580 182333025 + 183873099 183891314 + 184155311 184173526 + 1580863;2301993;6480464;6484113;6907045;8554872 10330181;10535959;10644691;10806215;11113207;11274398;11433294;12477932;12805222;14702039;15231748;15456783;15489334;15677333;16169070;16189514;16547521;17030191;17593335;18093802;18692936;19137009;19379695;19388021;19447967;19465938;19625296;20128690;20137080;20227366;21667018;21900206;21906983;21963094;21988832;22472876;22569537;22612246;22682247;22826439;22863007;22892949;23022960;23301094;23718855;24040443;24469800;24550385;24643799;24654937;8817329;9039502;9192851;9344861 1857 C9K0P9;F8WCF1;Q92997 ABBA01058455;AC131235;AF006013;AK093469;AK304686;AL110278;AMYH02008301;BC018289;BC032459;CH471052;D86963;NM_004423;U48252;U49262;U75651;XM_005247172 AAB47447;AAB65244;AAB84228;AAC72246;AAH18289;AAH32459;ABM82542;ABM85734;BAA13199;BAG65457;CAB53713;EAW78293;EAW78294;EAW78295;EAW78296;NP_004414;Q92997;XP_005247229 Hs.388116 1651735;1773242;1775349;2112654;2112694;2115021;2157305;2159399 1436;D3S4388;D3S4407;RH101840;RH77956;SHGC-77602;SHGC-77605;STS-R80399 KIAA0208 DSH homolog 3;OTTHUMP00000210777;OTTHUMP00000210778;dishevelled 3 (homologous to Drosophila dsh);dishevelled, dsh homolog 3;dishevelled-3;segment polarity protein dishevelled homolog DVL-3 APPROVED protein-coding ENSG00000161202 HGNC:3087 03222 601368 REVIEWED 1344523 DYNAP dynactin associated protein INVOLVED IN activation of protein kinase B activity; cellular response to ergosterol; positive regulation of cell proliferation; FOUND IN Golgi apparatus; plasma membrane; INTERACTS WITH dexamethasone (ortholog) 18 18 18 q21.2 48975950 48984284 + 52258390 52266724 + 54591159 54599493 + 6480464 14702039;20978158 284254 K7EMN5;Q8N1N2 ABBA01056101;AC091135;AK096425;AMYH02034763;CH471096;NM_173629 BAC04784;EAW63007;NP_775900;Q8N1N2 Hs.376146 C18orf26;FLJ39106;full OTTHUMP00000163561;dynactin-associated protein;hypothetical protein LOC284254;uncharacterized protein C18orf26 APPROVED protein-coding ENSG00000178690 HGNC:26808 08251 PROVISIONAL 1352824 DYDC1 DPY30 domain containing 1 This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 10 10 10 q23.1 76086210 76106851 - 82095858 82116523 - 80336102 80356767 - 6480464;8554872 12477932;14702039;15164054;15489334;16189514;16385451;18197198;19545932;24722188 143241 A8K927;Q8WWB3;X1WI33 ABBA01003802;ABBA01003803;ABBA01003804;AK125908;AK292542;AL359195;AMYH02023417;AMYH02023418;BC019250;BI828082;CH471142;HC007076;HC044627;NM_001269053;NM_138812;XM_005269549;XM_005269550;XM_005269553;XM_006717638 AAH19250;ACE86650;ACE87332;BAC86339;BAF85231;CBH19343;CBH30643;EAW80394;NP_001255982;NP_620167;Q8WWB3;XP_005269606;XP_005269607;XP_005269610;XP_006717701 Hs.407751 DPY30D1;FLJ43920;bA36D19.5 BC019250 protein;DPY30 domain-containing protein 1;OTTHUMP00000019962;OTTHUMP00000019963;OTTHUMP00000019964 APPROVED protein-coding ENSG00000170788 HGNC:23460 14062 615154 REVIEWED 1320219 DVL2 dishevelled segment polarity protein 2 This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7153295 7162512 - 7128661 7137867 - 7225342 7234548 - 1580863;2293492;2301993;6480464;6484113;6907045;8554872 17226800 10644691;10806215;10829020;11742073;11779461;12477932;12533515;12805222;12958364;15262978;15456783;15489334;16189514;16446366;16713569;17529994;17593335;18093802;18692936;18787224;18838381;19137009;19249679;19322201;19379695;19388021;19453261;19465938;19625296;19913121;20137080;20219685;20439735;20628086;20628365;20639871;20823832;21139048;21487968;21666888;21691068;21890473;21906983;21963094;21988832;21990322;22106258;22223637;22505724;22609948;22655072;22826439;22863883;22887353;22892949;23022960;23371553;23396967;23396968;23396981;23455922;23503679;23652996;23708998;24469800;24550385;24616100;24639526;24643799;24727453;8662242;8817329;8887313;9192851 1856 I3L0M7;I3L0Z8;I3L2N2;I3L2W9;O14641 ABBA01054854;ABBA01054855;AC120057;AF006012;AK026019;AK297099;AK297285;AK304229;AK309771;AK312829;AMYH02032894;BC014844;BG716400;BT009822;CB994349;CH471108;NG_033038;NM_004422;XM_005256502;XM_006721469 AAB65243;AAH14844;AAP88824;ADZ16035;BAG59612;BAG59756;BAG65098;EAW90244;EAW90245;NP_004413;O14641;XP_005256559;XP_006721532 Hs.118640 1659680;1778559;2216976;2218524 ACADVL_2963;DVL2__3968;RH11492;SHGC-35547 DSH homolog 2;OTTHUMP00000128349;dishevelled 2 (homologous to Drosophila dsh);dishevelled, dsh homolog 2;dishevelled-2;segment polarity protein dishevelled homolog DVL-2 APPROVED protein-coding ENSG00000004975 HGNC:3086 03690 602151 REVIEWED 1350887 DYM dymeclin This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008] 18 18 18 q21.1 43423709 43842456 - 46567846 46987172 - 49043026 49460709 - 1598787;1580863;6480464;7240710;8554872;8699517 12491225 12161821;12362026;12477932;12554689;14702039;15489334;17456239;18029348;18391952;18996921;20379614;20546612;20555340;20865280;20881960;21139048;21280149;21890473;21906983;21998595;22021425;23064961;23563607;24300288;8125298 54808 E9PG80;J3KRG4;J3KSF9;J3KSU8;J3KTF2;J3QQT7;J3QR81;J3QRD8;J3QRF2;J3QSE7;Q7RTS9 ABBA01018644;ABBA01018645;ABBA01018646;ABBA01018647;ABBA01018648;ABBA01018649;ABBA01018650;ABBA01018651;ABBA01018652;ABBA01018653;AC016866;AC044840;AC090329;AC100778;AK000078;AK074611;AK091256;AK225205;AK291303;AK296579;AK315091;AL390156;AMYH02034687;AMYH02034688;AMYH02034689;AMYH02034690;AMYH02034691;AMYH02034692;AMYH02034693;AMYH02034694;AMYH02034695;AY364250;BC001252;BC064394;BK000950;BQ021755;CH471096;DQ925676;NG_009239;NM_017653;XM_006722485;XM_006722486;XM_006722487;XM_006722488;XM_006722489;XM_006722490;XM_006722491;XM_006722492 AAH01252;AAH64394;AAQ76809;ABL59903;BAA90931;BAC11088;BAF83992;BAG37556;BAG52319;BAG59199;CAB99092;DAA00396;EAW62932;EAW62933;EAW62934;EAW62935;EAW62936;EAW62937;NP_060123;Q7RTS9;XP_006722548;XP_006722549;XP_006722550;XP_006722551;XP_006722552;XP_006722553;XP_006722554;XP_006722555 Hs.162996 1696316;1727469;1730767;1757379;1772148;1783676;1783718;1847171;1850805;2110923;2157874;2165024;7184743;7185502 D18S106E;D18S361E;D18S917E;G62992;RH46012;RH46385;SHGC-144774;SHGC-144977;SHGC-154967;SHGC-30879;SHGC-77740;WI-17768 DMC;FLJ20071;FLJ90130;SMC OTTHUMP00000163493;dyggve-Melchior-Clausen syndrome protein APPROVED protein-coding HGNC:21317 08469 223800;607326;607461 REVIEWED 1352468 DYDC2 DPY30 domain containing 2 This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 10 10 10 q23.1 76106909 76118178 + 82104501 82127829 + 80344745 80368073 + 6480464;8554872 12477932;14702039;15164054;15489334;16189514;16344560;16385451;18197198;19447967 84332 Q96IM9;X1WI30 ABBA01003802;ABBA01003803;ABBA01003804;AK093378;AL359195;AMYH02023417;AMYH02023418;BC007374;BC018606;BQ229460;CH471142;DA590784;NM_001270041;NM_001270042;NM_032372;NR_070308;NR_070309 AAH07374;BAC04148;EAW80391;EAW80392;EAW80393;NP_001256970;NP_001256971;NP_115748;Q96IM9 Hs.741500 5125497 SHGC-56385 MGC16186;bA36D19.6 DPY30 domain-containing protein 2;OTTHUMP00000019966;OTTHUMP00000019968;OTTHUMP00000019969;OTTHUMP00000019970 APPROVED protein-coding ENSG00000133665 HGNC:23468 11311 REVIEWED 7207017 DYNC1I2P1 dynein, cytoplasmic 1, intermediate chain 2 pseudogene 1 10 10 10 q11.23 75180579 75182627 + 52024724 52026772 + 50264964 50267012 + 728532 ABBA01052477;AC254108;AL450382;NG_022178 1677348;1770331;2117912 G19650;RH16687;RH18052 pseudo HGNC:45012 INFERRED 1606006 DYNC1LI1 dynein, cytoplasmic 1, light intermediate chain 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN positive regulation of mitotic cell cycle spindle assembly checkpoint; PARTICIPATES IN vasopressin signaling pathway via receptor type 2; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; cytoplasm; cytoplasmic dynein complex; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; coumestrol 3 3 3 p22.3 32504552 32549458 - 32567463 32612373 - 32525971 32570874 - 6480464;6907045;8554872 10893222;11243854;12477932;14702039;15302935;15345747;16260502;16344560;16565220;17081983;18029348;19229290;19454010;19946888;20026645;20360068;21139048;21145461;21169557;22190034;22863883;22939629;22956769;23000965;23383273;24250222;24816145;8125298 51143 C9JGM7;C9JLW1;E9PHI6;Q9Y6G9 ABBA01024936;ABBA01024937;ABBA01024938;AC104306;AF078849;AK001081;AK074348;AK222573;AK222653;AK293253;AMYH02006500;AMYH02006501;BC131620;BU521223;BX649189;CH471055;DA284201;NM_016141 AAD44481;AAI31621;BAD96293;BAD96373;BAG50854;BAG56785;CAE46207;EAW64431;EAW64432;EAW64433;NP_057225;Q9Y6G9 Hs.529495 1734260;1735318;1847137;1848385;2109243;2140592;2140594;5017738;5022578 A005S28;D1S1423;D3S2751E;D3S2949E;DNCLI1_9670;DYNC1LI1;G20465;RH12436;SGC32413 DLC-A;DNCLI1;FLJ10219;LIC1 OTTHUMP00000161315;OTTHUMP00000208862;cytoplasmic dynein 1 light intermediate chain 1;dynein light chain A;dynein light chain-A;dynein light intermediate chain 1, cytosolic;dynein, cytoplasmic, light intermediate polypeptide 1 protein-coding ENSG00000144635 HGNC:18745 10917 615890 VALIDATED 733042 DVL1 dishevelled segment polarity protein 1 DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008] 1 1 1 p36 1305944 1310484 + 1270658 1284509 - 1335278 1349117 - 1580898;1580899;734906;1581696;1581694;2301993;6480464;6484113;6907045 15256074;15608632;16478782;8644734;9298901 10330181;10330403;10332026;10428961;10581192;10644691;10806215;11113207;11487578;11742073;11779461;11803455;11818547;12477932;12490194;12533515;12556519;12650946;12805222;12824876;12883684;12941796;14684739;14702039;14747478;14750955;15262978;15342556;15454084;15456783;15852005;16169070;16457155;16621789;17593335;18093802;18162551;18223681;18347071;18632848;18692936;18760999;18976975;19388021;19453261;19465938;19561074;19625296;19643732;19956716;20177058;20227366;20388731;20412773;20439735;20634891;20639201;20846493;21044957;21262972;21900206;21906983;21963094;21988832;22467858;22826439;23836490;24040443;24129181;24469800;24500924;24550385;24643799;8288125;8817329;8856345;9192851;9344861;9482734 1855 O14640;Q86TH3 AB209210;ABBA01016032;AF006011;AK093189;AK095867;AK293286;AK300063;AL139287;AMYH02000094;BC017225;BC025292;BC050454;BC111419;BP305846;CH471183;KF495841;NG_008048;NM_004421;U46461;XM_005244731;XM_005244732;XM_005244733 AAB65242;AAC50682;AAH17225;AAH50454;BAC04089;BAD92447;BAG53150;BAH11484;BAH13201;EAW56224;EAW56225;EAW56226;EAW56227;NP_004412;O14640;P54792;XP_005244788;XP_005244789;XP_005244790 Hs.731450 1665809;2146167 RH68255;SHGC-74072 DVL;DVL1L1;DVL1P1;MGC54245 DSH homolog 1;DSH homolog 1-like;OTTHUMP00000003104;OTTHUMP00000003106;dishevelled 1 (homologous to Drosophila dsh);dishevelled, dsh homolog 1;dishevelled-1;dishevelled-1-like;segment polarity protein dishevelled homolog DVL-1;segment polarity protein dishevelled homolog DVL-1-like APPROVED protein-coding ENSG00000107404 HGNC:3084 03220 601365 REVIEWED 1344148 DYNC1LI2 dynein, cytoplasmic 1, light intermediate chain 2 Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008] 16 16 16 q22.1 51262971 51293905 - 66754796 66785526 - 66720896 66751622 - 1580863;6480464;6907045;8554872 12417987;12477932;14702039;15302935;15489334;16169070;16260502;16964243;17081983;19322201;19946888;20214888;20360068;21139048;21145461;21169557;21832049;22863883;22939629;24816145;7738094 1783 B4E2E0;H3BU48;H3BUM4;J3KRI4;J3KRZ2;J3KSD2;J3QKK5;O43237;Q63HJ8 ABBA01025413;ABBA01025414;ABBA01025415;AC018557;AC044802;AF035812;AK024863;AK095237;AK291766;AK295049;AK303031;AK304233;AL708642;AMYH02032214;BC010928;BC022934;BC025959;BC036633;BC069056;BM805417;BX648863;CH471092;NM_001286157;NM_006141 AAB88513;AAH25959;BAF84455;BAG58099;BAG64156;BAG65102;CAH56157;EAW83039;EAW83040;NP_001273086;NP_006132;O43237 Hs.369068 1653485;1662538;1710736;2125169;2144085;2163957 RH69477;RH79037;SHGC-61068;SHGC-61131;SHGC-83995;UniSTS:56070 DNCLI2;LIC-2;LIC2;LIC53/55 OTTHUMP00000174820;cytoplasmic dynein 1 light intermediate chain 2;dynein light intermediate chain 2, cytosolic;dynein, cytoplasmic, light intermediate polypeptide 2 APPROVED protein-coding ENSG00000135720 HGNC:2966 09923 611406 VALIDATED 1606227 DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010] 11 11 11 q21-q22.1 100141694 100511960 + 102980160 103350591 + 103109431 103479863 + 6480464;6907045;7240710;8554872;8699517 11907264;12056414;12432068;12477932;14702039;16320026;16440056;19056867;19361615;19442771;19615732;20379614;21118971;21139048;21525035;21723285;21890473;21906983;22499340;22990118;23456818;24046448;24057671;8186465;8666668;8832411;9325061;9373155;9763680 79659 H0YDE0;H0YEX1;Q8NCM8 AB082528;AB231765;AB231766;AB290167;ABBA01039927;ABBA01039928;AF288405;AK021818;AK095579;AK125524;AK131453;AMYH02025494;AMYH02025495;AMYH02025496;AP000817;AP001486;AP002829;AP002961;AP003382;AP003461;BC037496;BC038344;BX538093;BX649161;KF455481;KF455487;KF511110;NG_016423;NM_001080463;NM_001377;U20552;U53531;XM_006718903;Z83800 AAB09728;AAB50020;AAH37496;BAB13905;BAC02706;BAC04578;BAC86194;BAD18598;BAE17138;BAE46899;BAG06721;CAB06054;CAD98012;NP_001073932;NP_001368;Q8NCM8;XP_006718966 Hs.503721 1646358;1703370;1720411;1723117;1732774;1762085;1762087;2139990;2186263;5093538;5109963 A009Q21;D11S1873;D11S2308E;D11S2814;G32777;G59008;RH123744;SHGC-145992;SHGC-145993;SHGC-34226;SHGC-68668 ATD3;DHC1b;DHC2;DNCH2;DYH1B;FLJ11756;SRPS2B;SRTD3;hdhc11 OTTHUMP00000231582;OTTHUMP00000231584;cytoplasmic dynein 2 heavy chain 1;dynein cytoplasmic heavy chain 2;dynein heavy chain 11;dynein heavy chain isotype 1B;dynein heavy chain, isotype 1B;dynein, cytoplasmic, heavy polypeptide 2 APPROVED protein-coding ENSG00000187240 HGNC:2962 263520;603297;613091 REVIEWED 1351274 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008] 14 14 14 q32 82485364 82571630 + 102430865 102517135 + 101964528 102050798 + 1298890;1580863;6480464;6907045;7240710;8554872;8699517 8812413 10189366;10771482;11076968;11101529;11112706;11163259;11163260;11483508;11889140;12221128;12477932;12852856;12885786;14600259;14632200;14702039;14760703;14970193;15161933;15231748;15324660;15489334;15635413;16203747;16260502;16462731;16546759;17043677;17081983;17314511;17353931;17500595;17567985;17620599;17676955;17893145;18029348;18303054;18784752;18976975;19020519;19056867;19286658;19343720;19380743;19448619;19622634;19738201;19765186;19826009;19875381;19946888;20029029;20301462;20301532;20360068;20360680;20395553;20677014;21139048;21145461;21163940;21319273;21486957;21525035;21723285;21820100;21853274;21875946;21890473;21906983;21963094;21987572;22108332;22174317;22190034;22368300;22373868;22459677;22505724;22586326;22623428;22847149;22863883;22939629;22956769;22990118;23000965;23213255;23254330;23349634;23389635;23401859;23583712;23589491;23742762;23862649;24250222;24256283;24307404;24457600;24600008;24755273;24816145;25027693;7790358;8001984;8227145;8666668;8889548;9205841;9373155 1778 H0YJ21;Q14204 AB002323;AB290157;ABBA01048497;ABBA01048498;ABBA01048499;ABBA01048500;AF234785;AI241115;AI302138;AK023747;AK095415;AK299878;AL118558;AL833600;AMYH02029890;AMYH02029891;AY682080;BC021297;BC064521;BM976324;BP871545;BX648670;CH471061;DB508175;L23958;NG_008777;NM_001376;U53530;U61737 AAA16065;AAB09727;AAC50701;AAF35913;AAH21297;AAH64521;AAT74625;BAA20783;BAG06711;BAG61728;EAW81759;EAW81760;EAW81761;EAW81762;EAW81763;EAW81764;NP_001367;Q14204 Hs.614080 1649365;1649367;1659455;1684564;2109241;2114746;2119285;2132321;2140757;2169132;2180061;5014023;5015881;5015961;5016478;5020740;5022322;5022450;5022578;5037552 A002C27;A008V18;D10S275;D11S2560;D13S1553;D15S1477;D1S1423;D8S2279;DNCH1_8307;G19930;GDB:335751;GDB:434012;IB1673;L17809;RH146;RH17951;RH36371;RH45764;RH92631;WI-20030 CMT20;DHC1;DHC1a;DKFZp686P2245;DNCH1;DNCL;DNECL;DYHC;Dnchc1;HL-3;KIAA0325;MRD13;SMALED1;p22 OTTHUMP00000246649;SMALED;cytoplasmic dynein 1 heavy chain 1;cytoplasmic dynein heavy chain 1;dynein heavy chain, cytosolic;dynein, cytoplasmic, heavy polypeptide 1;dynein, cytoplasmic-like APPROVED protein-coding ENSG00000197102 HGNC:2961 02524 158600;600112;614228;614563 REVIEWED 7244909 DYNLL1-AS1 DYNLL1 antisense RNA 1 12 12 12 120557155 120567836 - 120928141 120933749 - 120490338 120495946 - 12477932;16344560 100506668 ABBA01020124;AC063943;AK026783;AMYH02027375;BC053632;BC065744;BX537644;CD691301;DA190937;NR_038854 Hs.660080 2172768;5022651;5037552 D11S2921;D8S2279;G29076 ncrna ENSG00000248008 HGNC:48588 VALIDATED 1349738 DYNLL1P2 dynein, light chain, LC8-type 1 pseudogene 2 14 14 14 q31.1 61919216 61919485 + 81879314 81879583 + 81412970 81413239 + 338456;731308 ABBA01030608;AL121769;NG_031940 DNCL1P2 APPROVED pseudo HGNC:20724 INFERRED 8157773 DYNLL1P3 dynein, light chain, LC8-type 1 pseudogene 3 1 1 1 p36.13 17169367 17169737 + 18839519 18839889 + 18513025 18513395 + 391012 ABBA01059735;AL031737;AMYH02000410;NG_005104 pseudo HGNC:49654 INFERRED 734329 DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1 ENCODES a protein that exhibits spectrin binding; microtubule binding (ortholog); microtubule motor activity (ortholog); INVOLVED IN metabolic process (ortholog); vesicle transport along microtubule (ortholog); PARTICIPATES IN vasopressin signaling pathway via receptor type 2; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasmic ribonucleoprotein granule; kinetochore; spindle pole; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-) 7 7 7 q21.3-q22.1 90101694 90427608 + 95401818 95739634 + 95772506 96110322 + 1580863;6480464;6907045;8554872 10049579;11148209;11483508;11500918;12006665;12359736;12475239;12477932;12690205;12853948;14702039;14985359;15121898;15303970;15342556;15992542;16051887;16189514;16260502;16344560;17139249;17609108;18784752;19229290;20048338;20201926;20360680;20682791;21145461;21652625;21763495;21767414;21900206;22610502;22956769;23251661;23960070;24324551;24816145;8943288 1780 A4D1I7;C9J3E7;E5RFE1;E5RJ75;O14576;Q8N542 ABBA01045774;ABBA01045775;AC002452;AC002540;AC022261;AC091779;AF063228;AF123074;AK091339;AK297427;AK309419;AK313148;AMYH02016294;AMYH02016295;AMYH02016296;AMYH02016297;AMYH02016298;AMYH02016299;BC012504;BC022540;BC032945;BC037854;BC053542;BP307571;CH236949;CH471091;DA491512;DB343806;NM_001135556;NM_001135557;NM_001278421;NM_001278422;NM_004411;XM_006715870 AAB67047;AAB70113;AAC33443;AAD26852;AAH22540;AAH32945;AAH37854;AAH53542;AAS01994;AAS07455;BAC03639;BAG35966;BAG59855;EAL24126;EAW76751;EAW76752;EAW76753;EAW76754;EAW76755;NP_001129028;NP_001129029;NP_001265350;NP_001265351;NP_004402;O14576;XP_006715933 Hs.440364 1336074;1652434;1661321;1663797;1667378;1684646;1691696;1706648;1716743;1772492;1855364;1856045;2108753;2142893;2143367;2143369;2149559;2154109;2177677;2177795;7188533;7188535 1882;A002B38;A004Y38;D7S1905;D7S2344;D7S2401;D7S527;DNCI1_8308;G19901;G42166;GDB:1317258;GDB:1318306;RH121663;RH28673;RH46992;RH78634;SHGC-31822;SHGC-56156;SHGC-82807;STS-R44592 DNCI1;DNCIC1 DH IC-1;OTTHUMP00000204776;OTTHUMP00000204818;OTTHUMP00000204855;OTTHUMP00000204856;OTTHUMP00000225662;cytoplasmic dynein 1 intermediate chain 1;cytoplasmic dynein intermediate chain 1;dynein intermediate chain 1, cytosolic;dynein, cytoplasmic, intermediate chain 1;dynein, cytoplasmic, intermediate polypeptide 1 protein-coding ENSG00000158560 HGNC:2963 04798 603772 VALIDATED 8157871 DYNLL1P6 dynein, light chain, LC8-type 1 pseudogene 6 4 4 4 q23 98260418 98260681 - 100963001 100963261 - 100041844 100042104 - 100288885 ABBA01063675;AC097460;AMYH02009804;NG_030214 pseudo HGNC:49657 INFERRED 8157851 DYNLL1P4 dynein, light chain, LC8-type 1 pseudogene 4 12 12 12 q24.13 113854145 113854413 - 114227347 114227612 - 113789542 113789807 - 100129739 ABBA01019966;AC009731;AMYH02027245;NG_030129 pseudo HGNC:49655 INFERRED 1602120 DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1 ENCODES a protein that exhibits motor activity (inferred); INVOLVED IN antigen processing and presentation of exogenous peptide antigen via MHC class II (inferred); cilium assembly (inferred); determination of left/right symmetry (inferred); PARTICIPATES IN vasopressin signaling pathway via receptor type 2; ASSOCIATED WITH Melanoma (inferred); Sitosterolemia (inferred); FOUND IN apical part of cell (ortholog); axonemal dynein complex (ortholog); axoneme (ortholog); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; cisplatin 2 2 2 p25.1-p24.1 43839914 43875885 + 44001178 44055095 + 43774039 43827616 + 6480464;6907045;8554872 10810093;11907264;12401177;12432068;12477932;12802074;17207965;21139048;21890473;8125298 51626 E5RFM8;E5RJK4;E5RK97;H7BYC8;Q8TCX1 ABBA01075097;AC011242;AC108476;AF151818;AK074206;AK223432;AK301489;AL050006;AMYH02003699;AY083346;BC006969;BC016324;BC035126;BC040558;BC058823;BG716986;BX493698;CB528979;CH471053;NM_001193464;NM_015522;NM_016008;XM_005264364;XM_005264365 AAD34055;AAH06969;AAH16324;AAH40558;AAH58823;AAL99216;AAY14702;ADQ32119;ADZ16093;BAD97152;BAG63001;CAB43233;EAX00289;EAX00290;EAX00291;NP_001180393;NP_056337;NP_057092;Q8TCX1;XP_005264421;XP_005264422 Hs.371597 2109217;2178307;2186398;5016781;5037552 D2LIC_9744;D8S2279;SHGC-36672;SHGC-67307;SHGC-8189 CGI-60;D2LIC;DKFZp564A033;LIC3 OTTHUMP00000158829;OTTHUMP00000201651;OTTHUMP00000201652;OTTHUMP00000201653;OTTHUMP00000227696;cytoplasmic dynein 2 light intermediate chain 1;dynein 2 light intermediate chain protein-coding ENSG00000138036 HGNC:24595 13116 VALIDATED 1352816 DYNLL1P1 dynein, light chain, LC8-type 1 pseudogene 1 14 14 14 q31.1 61752272 61752933 - 81712354 81713015 - 81246010 81246671 - 246720 ABBA01030610;AC010582;AL136040;AMYH02029625;NG_001584 DNCL1P1 APPROVED pseudo HGNC:20723 INFERRED 732025 DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2 This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 2 2 2 q31.1 166160554 166221488 + 172543919 172606668 + 171687409 171750158 + 1580863;6480464;6907045;8554872 10049579;11076863;11076968;11230166;11751894;12221128;12477932;12852856;14702039;15252450;15302935;15489334;15489336;16159877;16169070;16189514;16196087;16260502;16344560;16381901;16462731;17353931;18781797;19386764;19540120;19744529;20360068;21139048;21145461;21525035;22094641;22190034;22200735;22863883;22990118;23383273;23443559;24457600;24816145;25027693;7790358;8125298;8522607 1781 B4DPZ3;E7EMU4;E7EQL5;E7EQU2;E7ERH4;E7ERR6;E7ESD3;E7ET01;E7ETL8;E7EU01;E7EUM4;E7EV09;E9PGG1;Q13409 AB209014;ABBA01020727;AC064826;AC068039;AF134477;AF250307;AK024742;AK026574;AK055491;AK096579;AK225759;AK298561;AK301866;AK308008;AK316119;AL137519;AL832832;AMYH02005225;AY037160;BC015038;BC091498;BC109375;BT007130;BX537412;CH471058;DA435365;DQ786313;DQ786324;NM_001271785;NM_001271786;NM_001271787;NM_001271788;NM_001271789;NM_001271790;NM_001378;U39575;XM_005246363;XM_005246364;XM_005246365;XM_005246366;XM_005246367;XM_005246369;XM_006712347;XM_006712348 AAA89166;AAH15038;AAH91498;AAI09376;AAK37426;AAK67638;AAP35794;AAP97254;AAX93177;AAY24133;BAB15502;BAB70932;BAD92251;BAG60755;BAG63305;BAH14490;CAB70785;CAD97654;CAL38635;EAX11199;EAX11200;EAX11201;EAX11202;EAX11203;EAX11204;EAX11205;EAX11206;EAX11207;EAX11208;EAX11209;NP_001258714;NP_001258715;NP_001258716;NP_001258717;NP_001258718;NP_001258719;NP_001369;Q13409;XP_005246420;XP_005246421;XP_005246422;XP_005246423;XP_005246424;XP_005246426;XP_006712410;XP_006712411 Hs.546250 1298278;1340099;1651509;1660236;1665793;1677348;1699210;1759707;1770331;2117912;2137614;2140445;5022757;7186104 D2S2302;D2S335;DYNC1I2;G19650;RH103186;RH16687;RH18052;RH46285;RH68005;RH69663;SHGC-150980;SHGC-34492;SHGC-62010 DNCI2;FLJ21089;FLJ90842;IC2;MGC104199;MGC111094;MGC9324 DH IC-2;OTTHUMP00000204977;OTTHUMP00000205407;OTTHUMP00000205408;OTTHUMP00000205409;OTTHUMP00000205410;OTTHUMP00000205411;OTTHUMP00000205452;OTTHUMP00000205453;cytoplasmic dynein 1 intermediate chain 2;cytoplasmic dynein intermediate chain 2;dynein intermediate chain 2, cytosolic;dynein, cytoplasmic, intermediate polypeptide 2 protein-coding ENSG00000077380 HGNC:2964 04512 603331 REVIEWED 731010 DYNLL1 dynein, light chain, LC8-type 1 Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 12 12 12 q24.23 120542375 120570391 + 120907660 120936298 + 120469857 120498495 + 633683;6480464;6907045 8864115 10198631;10426949;10683380;10844022;11024152;11056532;11069771;11076968;11122378;11148209;11157096;11178896;11243854;11978406;12097491;12221128;12475239;12477932;12591950;12761050;12766061;12852856;14561217;14607843;14607844;14760703;14764673;15117959;15193260;15504720;15560738;15611139;15891768;15937109;16098226;16169070;16260502;16341674;16462731;16684779;16781079;16946704;17012239;17169380;17172455;17353931;18084006;18420585;18579519;18692162;18767155;18781797;18782753;18850735;19032974;19156129;19454010;19471022;19557173;19615732;19946888;20360068;20379614;20412299;20444980;20562859;20801876;20889982;20921139;20936810;21094642;21139048;21145461;21454704;21533121;21565611;21621319;21890473;21900206;21906983;21963094;21971545;21988832;22167198;22430153;22505724;22514732;22810585;22863883;22939629;22965910;23000965;23027904;23293355;23455922;23482567;23589491;23602568;23741361;24250222;24255178;24457600;7790358;7829101;8628263;9372968;9808041;9808772;9837926 8655 F8VRV5;F8VXI7;F8VXL2;P63167;Q6FGH9 ABBA01020122;ABBA01020123;ABBA01020124;AC063943;AK311790;AL021546;AMYH02027375;BC100289;BC104244;BC104245;BG474448;BG705617;BI491360;BM817665;BU598428;CB992195;CD678447;CH471054;CR407672;CR542128;NM_001037494;NM_001037495;NM_003746;U32944 AAB04149;AAI00290;AAI04245;AAI04246;ACT64411;ACT64412;BAG34733;CAG28600;CAG46925;EAW98195;EAW98196;EAW98197;NP_001032583;NP_001032584;NP_003737;P63167 Hs.5120 2110845;2172768;5016791;5019851;5124135;5493619 G29076;G34959;RH67198;RH80827;UniSTS:472905;UniSTS:489754 DLC1;DLC8;DNCL1;DNCLC1;LC8;LC8a;MGC126137;MGC126138;PIN;hdlc1 8 kDa dynein light chain;OTTHUMP00000240904;OTTHUMP00000240908;OTTHUMP00000240909;OTTHUMP00000240928;cytoplasmic dynein light polypeptide;dynein light chain 1, cytoplasmic;dynein, cytoplasmic, light polypeptide 1;protein inhibitor of neuronal nitric oxide synthase APPROVED protein-coding ENSG00000088986 HGNC:15476 03334 601562 REVIEWED 1315823 DYNLRB2 dynein, light chain, roadblock-type 2 INVOLVED IN metabolic process (inferred); transport (inferred); FOUND IN extracellular vesicular exosome; cytoplasmic dynein complex (ortholog); INTERACTS WITH pirinixic acid; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 q23.3 64873265 64882963 + 80574854 80584713 + 80540957 80550816 + 1580863;6480464 11750132;12077152;12477932;12665801;16260502;19711352;19844255;20379614;21832049;22001757;22505724;23000965;23509613;24250222;24816145 83657 H3BNG9;H3BPA0;H3BQI1;Q7Z4M1;Q8TF09 ABBA01016995;AC108097;AF125108;AMYH02032492;BC035232;BC054892;CH471114;KF456210;NM_130897;XM_005256188;XM_006721295;XM_006721296 AAH54892;AAL75945;EAW95568;NP_570967;Q8TF09;XP_005256245;XP_006721358;XP_006721359 Hs.98849 DNCL2B;DNLC2B;MGC62033;ROBLD2 OTTHUMP00000174966;bithoraxoid-like protein;dynein light chain 2B, cytoplasmic;dynein light chain roadblock-type 2;dynein, cytoplasmic, light polypeptide 2B;roadblock domain containing 2;roadblock domain-containing protein 2;roadblock/LC7-like protein-coding ENSG00000168589 HGNC:15467 06204 607168 PROVISIONAL 730979 DYNLL2 dynein, light chain, LC8-type 2 ENCODES a protein that exhibits cytoskeletal protein binding (inferred); motor activity (inferred); INVOLVED IN antigen processing and presentation of exogenous peptide antigen via MHC class II (inferred); apoptotic process (inferred); intrinsic apoptotic signaling pathway (inferred); PARTICIPATES IN vasopressin signaling pathway via receptor type 2; FOUND IN centrosome; membrane; nucleus; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2-methylcholine; arsane 17 17 17 q22 52622562 52629401 + 56160780 56167618 + 58083419 58090257 + 6480464;6907045 10844022;11122378;11546872;12097491;12477932;12591950;14561217;15146197;15489334;16189514;16260502;16344560;17353931;19615732;19946888;20360068;20889982;21139048;21890473;21988832;22505724;22810585;23000965;23455922;23602568;24457600 140735 Q96FJ2 ABBA01041326;AC015813;AF086304;AF112997;AK312125;AMYH02033684;BC010744;BF528423;CH471109;CN280282;CS185623;DA140058;DB022843;NM_080677 AAH10744;AAP97230;BAG35061;CAJ42804;EAW94483;EAW94484;NP_542408;Q96FJ2 Hs.720595 DLC8b;DNCL1B;Dlc2;MGC17810;RSPH22 8 kDa dynein light chain b;dynein light chain 2;dynein light chain 2, cytoplasmic;radial spoke 22 homolog protein-coding HGNC:24596 06489 608942 VALIDATED 1350586 DYNLT3 dynein, light chain, Tctex-type 3 This gene encodes a member of a subclass of dynein light chains. The encoded protein homodimerizes and forms the light chain component of the cytoplasmic dynein motor protein complex. This protein may be important for binding dynein to specific cargos including the spindle checkpoint protein BUB3. This protein may also function independently of dynein as a transcriptional modulator. Pseudogenes of this gene are found on chromosomes 2 and 20.[provided by RefSeq, Mar 2010] X X X p21 41835775 41844575 - 37698089 37706889 - 37838836 37847636 - 1580863;6480464 11425878;11746667;11751937;12009301;12475239;12477932;15117959;15489334;16079286;16189514;16344560;17289665;17676955;18029348;20360068;20668116;21166973;22863883;22939629;24457600;8004092;9692886;9790665 6990 A6NGJ0;F2Z328;P51808 ABBA01047078;ABBA01047079;AK311851;AL121578;AMYH02039170;BC000968;CH471141;CR450320;CR542213;DA342302;DB492712;FB775514;NG_016797;NM_006520;U02556 AAA57444;AAH00968;ACT64502;ACT64503;BAG34793;CAG29316;CAG47009;CAV30714;EAW59452;NP_006511;P51808 Hs.446392 1669982;1681841;1688767;1702294;1731353 DXS1110;DXS7492;GDB:342122;RH17973;RH77891 RP3;TCTE1L;TCTEX1L OTTHUMP00000031912;OTTHUMP00000031913;OTTHUMP00000031914;dynein light chain Tctex-type 3;protein 91/23;t-complex-associated-testis-expressed 1-like APPROVED protein-coding ENSG00000165169 HGNC:11694 02249 300302 REVIEWED 8157926 DYNLL1P7 dynein, light chain, LC8-type 1 pseudogene 7 7 7 7 q21.11 79714454 79714820 - 85010421 85010787 - 85381105 85381471 - 12690205;9847074 729630 ABBA01045884;AC006151;AC073958;AC074112;AC090422;AMYH02016197;CH236949;NG_006625 EAL24183 pseudo HGNC:49658 INFERRED 1353109 DYRK1AIP1 DYRK1A interacting protein 1 93980 HGNC:14401 1603169 DYNLT3P1 dynein, light chain, Tctex-type 3 pseudogene 1 20 20 20 p12.1 17534181 17534527 - 17459730 17460076 - 17479085 17479431 - 170554 ABBA01054022;AL031664;AMYH02036765;NG_001059 TCTE1P;dJ531H16.2 pseudo HGNC:16571 INFERRED 1350419 DYRK1AIP2 DYRK1A interacting protein 2 93981 HGNC:14459 737237 DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008] 21 21 21 q22.13 23938247 24086068 + 38739859 38887679 + 37365790 37515376 + 625468;1580863;1300048;6480464;8699517;7240710;8554872 11877424 10329007;10644696;10830953;11311120;12138125;12477932;12576186;12799418;12964950;14500717;14593110;14623875;15068245;15068246;15126119;15324660;15369779;15592455;15694837;15778465;15917294;16009940;16242644;16512921;16733250;16919501;16959772;17135279;17145134;17192257;17229891;17294446;17536841;17906291;18005339;18231969;18366763;18405873;18468476;18509201;18658135;18678649;18696092;18729074;18771760;19016842;19081073;19242551;19322201;19383720;19722700;19801542;19995442;20167603;20237271;20456003;20694148;20696760;20940704;21102440;21126318;21135538;21139048;21156027;21156028;21157379;21205194;21215488;21252229;21294719;21364930;21498570;21498571;21637297;21777625;21832049;21878370;21890473;21965663;22110360;22154664;22269890;22354171;22495309;22669612;22765017;22767602;22792062;22876196;22990118;23099646;23124096;23147510;23360763;23382691;23455922;23512985;23602568;23635774;23948904;24119401;24152332;24327345;24654937;8274451;8769099;8872470;8975710;9037601;9048932;9284911;9503011;9503019;9748265;9784410 1859 E7EMI5;Q13627;Q76N25 AB015282;AB015283;AB015284;ABBA01057421;ABBA01057422;ABBA01057423;AF108830;AJ001870;AJ001871;AK301752;AMYH02037800;AMYH02037801;AP001413;AP001421;AP001428;AP001437;BC030515;BC045802;BC065184;CH471079;D85759;D86550;HF584751;HF584752;KF457264;KF457265;KF510556;NG_009366;NM_001396;NM_101395;NM_130436;NM_130438;U52373;U58496;XM_005260931;XM_005260933;XM_006723976;XM_006723977;XM_006723978;XM_006723979;Z25423 AAB18639;AAC50939;AAD31169;AAI56310;AAI72505;BAA12866;BAA13110;BAA33975;BAA33976;BAA33977;BAG63214;CAA05059;CAA05060;CAA80910;CCQ44048;CCQ44049;EAX09702;EAX09703;EAX09704;EAX09705;EAX09706;EAX09707;EAX09708;NP_001387;NP_567824;NP_569120;NP_569122;Q13627;XP_005260988;XP_005260990;XP_006724039;XP_006724040;XP_006724041;XP_006724042 Hs.368240 1338154;1644230;1652893;1680284;1715339;1730861;1751393;1759825;1770254;1771224;1847059;2117174;2119269;2140133;2145664;2181385;2186186;2218526;5017851;5021998 D11Wox11;D21S1972;D21S270;D21S394;DYRK1A;DYRK1A__4795;G34602;RH120501;RH91183;SHGC-105235;SHGC-170065;SHGC-50010;SHGC-51948;SHGC-51949;SHGC-52085;SHGC-63617;SHGC-87621;SHGC-87626;SHGC-87629;STS-G06294 DYRK;DYRK1;HP86;MNB;MNBH;MRD7;hMNB MNB/DYRK protein kinase;OTTHUMP00000109090;OTTHUMP00000109091;OTTHUMP00000109094;OTTHUMP00000174799;dual specificity YAK1-related kinase;dual specificity tyrosine-phosphorylation-regulated kinase 1A;mnb protein kinase homolog hp86;protein kinase minibrain homolog;serine/threonine kinase MNB;serine/threonine-specific protein kinase APPROVED protein-coding ENSG00000157540 HGNC:3091 09018 600855;614104 REVIEWED 734301 DYNLRB1 dynein, light chain, roadblock-type 1 This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [provided by RefSeq, Aug 2013] 20 20 20 q11.21 29853678 29877913 + 33104193 33128762 + 34516364 34540958 + 6480464;6484113 10198631;11042152;11750132;11780052;12077152;12475967;12477932;12629046;12665801;14702039;14733918;15231747;15489334;16189514;16260502;16778097;16950395;16970917;17556076;18044744;19571232;19711352;19946888;20360068;20972266;21139048;21145461;21890473;21906983;22505724;22637579;22863883;22939629;23000965;23079622;23333499;24816145 83658 B1AKR6;B4DFR2;Q9NP97 ABBA01019192;AF132750;AF161511;AF165516;AF178431;AK026864;AK097281;AK294214;AL109923;AL136173;AMYH02036980;AY026513;BC002481;BC007223;BG110161;BG419592;BM561321;BM791453;BQ639804;BU163605;CB149456;CH471077;KF511301;NM_001281727;NM_001281728;NM_001281729;NM_014183;NM_177953;NR_104032;XM_005260568 AAF29126;AAF86646;AAH02481;AAK18712;AAK95342;AAL75951;BAG57523;EAW76267;NP_001268656;NP_001268657;NP_001268658;NP_054902;NP_808852;Q9NP97;XP_005260625 Hs.593920 2157487;2165924;2168136 RH41781;SHGC-53176;Z94403 BITH;BLP;DNCL2A;DNLC2A;ROBLD1 OTTHUMP00000030691;OTTHUMP00000030692;ROBL/LC7-like 1;Roadblock-1;bithoraxoid-like protein;cytoplasmic dynein light chain 2A;dynein light chain 2A, cytoplasmic;dynein light chain roadblock-type 1;dynein, cytoplasmic, light polypeptide 2A;dynein-associated protein HKM23;dynein-associated protein Km23;dynein-associated protein rkm23;roadblock domain containing 1;roadblock domain-containing protein 1 APPROVED protein-coding ENSG00000125971 HGNC:15468 06203 607167 REVIEWED 732244 DYNLT1 dynein, light chain, Tctex-type 1 This gene encodes a component of the motor complex, cytoplasmic dynein, which transports cellular cargo along microtubules in the cell. The encoded protein regulates the length of primary cilia which are sensory organelles found on the surface of cells. The protein encoded by this gene interacts with viral proteins, like the minor capsid protein L2 of human papillomavirus, and is required for dynein-mediated delivery of the viral nucleic acid to the host nucleus. This protein interacts with oncogenic nucleoporins to disrupt gene regulation and cause leukemic transformation. Pseudogenes of this gene are present on chromosomes 4 and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014] 6 6 6 q25.2-q25.3 159705500 159713799 - 159057506 159065804 - 158636474 158644772 - 6480464 10644691;11751937;12009301;12049630;12475239;12477932;14583445;15117959;15194795;15489334;15503857;15992542;16196087;16260502;16880273;16956385;17965411;18647839;20360068;20668116;21139048;21145461;21166973;21252941;21262767;21394082;21700358;21767858;21832049;21835165;21890473;21906983;21963094;21988832;22028875;22118674;22145905;22164227;22939629;23000965;23006766;23840580;23954591;24170091;24250222;25036637;5503857;8646886;8889548;8943288;9804756 6993 P63172;Q5VTU3;Q5VTU5 ABBA01021087;AK026669;AK315601;AL589931;AL591025;AMYH02014853;BC029412;BC105588;BU675683;CH471051;CR456931;D50663;DN915418;EU862237;HY017024;HY171700;NM_001291602;NM_001291603;NM_006519;U56255;XM_005267117 AAB03318;AAH29412;AAI05589;ABM83532;ABM83533;ABM86772;ABM86773;ACF74976;BAA09317;BAG37971;CAG33212;EAW47655;EAW47656;EAW47657;EAW47658;EAW47659;NP_001278531;NP_001278532;NP_006510;P63172;XP_005267174 Hs.445999 1652702;5015961;5024039;5092606;5109281 A005A07;D15S1477;D16S325;D1S1425;G32210 CW-1;MGC111571;TCTEL1;tctex-1 OTTHUMP00000017508;T-complex testis-specific protein 1 homolog;dynein light chain Tctex-type 1;t-complex testis expressed 1;t-complex-associated-testis-expressed 1-like 1 APPROVED protein-coding ENSG00000146425 HGNC:11697 15987 601554 REVIEWED 1347661 DYRK1AIP3 DYRK1A interacting protein 3 93982 HGNC:14403 1316288 DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 19 19 19 q13.2 37118283 37127135 - 40315990 40324841 - 39825350 39834201 - 1580863;6480464;8699517;7240710;8554872 10910078;11980910;12384504;12455049;12477932;12633499;14500717;14593110;15057824;15144186;15489334;15546868;15851482;16257974;16618736;16845176;17046823;17671193;18029348;18818203;19351855;19542220;19633423;20042639;20512148;20857490;20936779;20940704;21777625;21878655;21987572;22159921;22918246;22939624;23114871;23602568;24134204;24250222;24827035;9748265;9918863 9149 B4DXU2;M0R131;M0R2X3;Q9Y463 ABBA01040734;AC005393;AC244229;AF205861;AK074971;AK302127;BC009688;BC018751;BC025291;BI964831;BQ446787;CH471126;HY024135;NG_034145;NM_004714;NM_006483;NM_006484;XM_005259395;XM_005259398;XM_006723464;XM_006723465;Y17999 AAC28914;AAF15893;AAH18751;AAH25291;ABM83462;ABM86673;BAG52042;BAG63504;CAA76989;CAA76990;CAA76991;EAW56916;EAW56917;EAW56918;EAW56919;EAW56920;EAW56921;EAW56922;EAW56923;EAW56924;NP_004705;NP_006474;NP_006475;Q9Y463;XP_005259452;XP_005259455;XP_006723527;XP_006723528 Hs.130988 AOMS3;MIRK dual specificity tyrosine-phosphorylation-regulated kinase 1B;minibrain-related kinase;mirk protein kinase APPROVED protein-coding ENSG00000105204 HGNC:3092 05188 604556;615812 REVIEWED 1351667 DYRK4 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 This gene encodes an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013] 12 12 12 p13.32 6321281 6345070 + 4671375 4723041 + 4590072 4613888 + 1580863;6480464;8554872 12477932;15489334;15607427;16344560;17292540;18029348;19953087;21127067;21382349;21988832;22939624;23602568;23940030;9748265 8798 B4DQW1;B4E1A4;D3JEN2;F5GWS4;F5H3D3;F5H4X6;H0YFI4;Q9NR20 AA524246;ABBA01048764;AC005832;AF263541;AK292322;AK298979;AK303744;AK308260;AK308702;AK311576;AL561586;AMYH02025927;BC031244;CH471116;DB082653;GU139739;GU139740;GU139741;GU139742;GU139743;GU139744;GU139745;GU139746;HY337672;NM_001282285;NM_001282286;NM_003845;NR_104115;Y09305 AAF91393;AAH31244;ABM82446;ABM85636;ADC33153;ADC33154;ADC33155;ADC33156;ADC33157;BAF85011;BAG61073;BAG64716;CAA70488;EAW88841;EAW88842;NP_001269214;NP_001269215;NP_003836;Q9NR20 Hs.439530 1342155;1722665;1772775;1855271;2108041;2135835 A007I33;D12S1624;DYRK4_8858;G60416;RH15741;SHGC-17558 OTTHUMP00000238290;OTTHUMP00000238291;OTTHUMP00000238292;dual specificity tyrosine-phosphorylation-regulated kinase 4 APPROVED protein-coding ENSG00000010219 HGNC:3095 10926 609181 REVIEWED 4109875 DYNLT3P2 dynein, light chain, Tctex-type 3 pseudogene 2 2 2 2 122264112 122265634 + 128957475 128958997 + 128199901 128201423 + 100381215 ABBA01040177;AC017079;AMYH02004746;AMYH02004747;NG_016784 1681841 RH77891 pseudo HGNC:37081 INFERRED 1345621 DYT14 dystonia 14 12084887 93984 HGNC:14936 1344576 DYT12 dystonia 12 ASSOCIATED WITH ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (inferred); Dystonia 12 (inferred) 7240710 53589 HGNC:3100 128235;601338;614820 1348928 DYT15 dystonia 15, myoclonic ASSOCIATED WITH Dystonia 15, myoclonic (inferred) 7240710 12391345 317714 1299942;1337839 D18S1132;D18S843 HGNC:31376 607488 1322106 DYRK3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 180060336 180073977 + 206808881 206823229 + 206635536 206649197 + 1580863;6480464;8554872 10779429;12356771;12477932;15592455;15607427;16344560;18482256;18854306;19953087;20167603;21693704;23415227;23602568;23940030;9748265;9845759 8444 O43781;Q5SY34 ABBA01010191;AF186773;AF186774;AF327561;AK291189;AK308082;AK313245;AL591846;AMYH02002552;AU126055;AY590695;BC015501;BC037269;CH471100;NM_001004023;NM_003582;XM_005273315;XM_005273316;XM_006711576;XM_006711577;Y12735 AAG17028;AAG17029;AAH15501;AAH37269;AAK16443;AAT06103;ADZ15606;BAF83878;BAG36056;CAA73266;EAW93533;EAW93534;EAW93535;NP_001004023;NP_003573;O43781;XP_005273372;XP_005273373;XP_006711639;XP_006711640 Hs.164267 1686016;1853563;2110381;2180659 DYRK3__4798;G34856;NIB1752;RH98487 DYRK5;RED;REDK;hYAK3-2 OTTHUMP00000034527;OTTHUMP00000034528;OTTHUMP00000034529;OTTHUMP00000034530;dual specificity tyrosine-phosphorylation-regulated kinase 3;dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5;protein kinase Dyrk3;regulatory erythroid kinase APPROVED protein-coding ENSG00000143479 HGNC:3094 04607 603497 REVIEWED 1345446 DYT2 dystonia 2, torsion (autosomal recessive) ASSOCIATED WITH Dystonia musculorum deformans type 2 (inferred) 7240710 1862 HGNC:3102 224500 1352121 DYT6 dystonia 6, torsion (autosomal dominant) ASSOCIATED WITH Dystonia 6, torsion (inferred) 7240710 9382482 1865 HGNC:3106 602629 1323814 DYRK2 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008] 12 12 12 q15 67706515 67720446 + 68042512 68056444 + 67648732 67662664 + 1580863;6480464;6484113 11311121;12477932;12588975;14593110;15146197;15489334;16189514;16344560;16511445;17349958;18029348;18455992;19287380;19596956;19818968;19965871;21832049;22307329;22878263;22939624;23362280;23602568;23791882;24438055;9748265 8445 F5GXG1;F5H5L5;Q92630 ABBA01026563;AC078777;AK024870;AK025018;AK313937;AMYH02026691;BC005809;BC006375;CH471054;CN303286;DA768075;DB461362;NM_003583;NM_006482;Y09216;Y13493 AAH05809;AAH06375;ADZ15936;BAG36656;CAA70418;CAA73885;EAW97176;EAW97177;NP_003574;NP_006473;Q92630 Hs.173135 1736230;1854405;2120963;2120965;2137709;2154516;2163878;2218528;5014671;5015525 A005S37;D12S1170E;D12S1545;DYRK2__4797;G20468;RH44483;STS-C14973;STS-R26535;STS-Y09216;WI-14800 FLJ21217;FLJ21365 OTTHUMP00000240070;OTTHUMP00000240071;dual specificity tyrosine-phosphorylation-regulated kinase 2 APPROVED protein-coding HGNC:3093 04606 603496 REVIEWED 1350596 DYT4 dystonia 4, torsion (autosomal dominant) ASSOCIATED WITH Leukodystrophy, Hypomyelinating, 6 (inferred); Whispering dysphonia, hereditary (inferred) 7240710 8432555 1864 HGNC:3104 128101;612438 1347826 DYT13 dystonia 13, torsion ASSOCIATED WITH Dystonia 13, Torsion (inferred) 7240710 93983 1341819 D1S2667 HGNC:3101 607671 1343573 DYT7 dystonia 7, torsion (autosomal dominant) ASSOCIATED WITH Torsion dystonia 7 (inferred) 7240710 8894706 1866 HGNC:3107 602124 1346611 DYX2 dyslexia susceptibility 2 ASSOCIATED WITH Dyslexia (inferred) 7240710 7939663 1868 HGNC:3109 600202 5491056 DYX1C1-CCPG1 DYX1C1-CCPG1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring dyslexia susceptibility 1 candidate 1 (DYX1C1) and cell cycle progression 1 (CCPG1) genes on chromosome 15. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011] 15 15 q 55647421 55790782 - 55355223 55498584 - 6480464;8554872 12477932;20967262 100533483 ABBA01039023;ABBA01039024;ABBA01039025;ABBA01039026;ABBA01039027;AC013355;AC018926;AC022083;AK295788;AMYH02030485;AMYH02030486;AMYH02030487;AMYH02030488;AMYH02030489;AMYH02030490;AMYH02030491;AMYH02030492;BC051725;NR_037923 BAG58609 Hs.285051 1649118;1666777;1668480;1736492;1795616 CPR8_1467;D15S700E;RH65629;SHGC-53386;WI-16128 FLJ60574 APPROVED ncrna HGNC:43019 VALIDATED 1344027 DYX3 dyslexia susceptibility 3 ASSOCIATED WITH Dyslexia (inferred) 7240710 10507721 11192 1339112;1668174 D2S1337;D2S2352 HGNC:3110 604254 1347969 DYT3 dystonia 3 (with Parkinsonism) ASSOCIATED WITH Dystonia 3, Torsion, X-Linked (inferred) X X q13.1 71101596 71102738 + 70748555 70749697 + 7240710 12928496;1518853;16366515;17952504;19578124;7668293 1863 XM_002343817;XM_002346308;XM_002348161 XP_002343858;XP_002346349;XP_002348202 Hs.722619 XDP Torsion dystonia-parkinsonism, Filipino type protein-coding HGNC:3103 314250 1606642 DYTN dystrotelin ENCODES a protein that exhibits calcium ion binding (inferred); zinc ion binding (inferred); FOUND IN plasma membrane (inferred) 2 2 2 q33.3 201277772 201344552 - 207516345 207583120 - 206651621 206718396 - 17233888 391475 A2CJ06 ABBA01062665;ABBA01062666;AC010731;AMYH02005631;AMYH02005632;DQ516347;NM_001093730 A2CJ06;ABF55377;NP_001087199 Hs.640667 1339698;1709700;1728949;1752195 D10Bir17;D2S2358;SHGC-106052;SHGC-86337 OTTHUMP00000206522 protein-coding ENSG00000232125 HGNC:23279 PROVISIONAL 1351317 DYX1 dyslexia susceptibility 1 ASSOCIATED WITH CILIARY DYSKINESIA, PRIMARY, 25 (inferred); Dyslexia (inferred) 7240710 3652490;8981944 1867 1335559;1338535;1340891;1342033;7186143 D15S132;D15S143;D15S146;D15S994 HGNC:3108 127700;615482 1348487 DYX7 dyslexia susceptibility 7 14755455 266726 HGNC:19324 1351758 DYX4 dyslexia susceptibility 4 11496366 26300 HGNC:3111 1349139 DYX5 dyslexia susceptibility 5 ASSOCIATED WITH Dyslexia (inferred) 7240710 11584043 171089 1337249;1341121;7185582 D3S1595;D3S3655 HGNC:18343 606896 1322255 DYSF dysferlin The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008] 2 2 2 p13.3 71531488 71764393 + 71680347 71913895 + 71453294 71686763 + 1598789;1580863;6480464;7240710;8554872;8699517 9731526 10196375;10196377;10496277;11198284;11468312;11532985;11959863;12477932;12664320;12836053;14506282;14506716;14512171;14560310;14678801;14749532;15221058;15318348;15469449;15477515;15535137;15827562;15835269;16010686;16087766;16100712;16344560;16606933;16608842;16797397;16862423;16896923;16934466;16996541;17185750;17287450;17363620;17554076;17698709;17825554;17828519;17868276;17897828;18187620;18276788;18294055;18306167;18396043;18464913;18495154;18641458;18832576;18853459;19056867;19084402;19221801;19228595;19253956;19286669;19309282;19326120;19380584;19493611;19545895;19594366;19834057;19929428;20082313;20301480;20301582;20373350;20379614;20413686;20535123;20544924;20558759;20574037;20595382;20618995;20724702;21119217;21173544;21280221;21412170;21522182;21556485;21658164;22037454;22043020;22110769;22174839;22194990;22297152;22318734;22505724;22720081;22736764;23185377;23243261;23254335;23516275;23519732;23558685;23792176;23859474;23874603;24091414;24163370;24239457;24324551;24438169;24454878;24461013;24488599;24687993;24902367;25015289;8012357;9731527 8291 O75923;Q8TCI0 ABBA01075553;ABBA01075554;ABBA01075555;ABBA01075556;AC010147;AC104084;AF075575;AI128455;AI192657;AI739271;AJ007973;AJ566204;AK074104;AK074442;AK074649;AK295004;AK303364;AK310739;AMYH02004053;AMYH02004054;AMYH02004055;AMYH02004056;AMYH02004057;BC038246;BC171803;CH471053;DB292971;DQ267935;EU515155;EU515156;EU515157;EU515158;EU515159;EU515160;EU515161;EU515162;EU515163;EU515164;EU515165;EU515166;HQ222984;NG_008694;NM_001130455;NM_001130976;NM_001130977;NM_001130978;NM_001130979;NM_001130980;NM_001130981;NM_001130982;NM_001130983;NM_001130984;NM_001130985;NM_001130986;NM_001130987;NM_003494;XM_005264584;XM_005264585 AAC63519;AAI72229;AAY14954;AAY24199;ABB89736;ACB12752;ACB12753;ACB12754;ACB12755;ACB12756;ACB12757;ACB12758;ACB12759;ACB12760;ACB12761;ACB12762;ACB12763;ADQ57464;BAB84930;BAB85086;BAG51981;BAH11947;BAH13950;CAA07800;CAD92859;EAW99763;EAW99764;EAW99765;NP_001123927;NP_001124448;NP_001124449;NP_001124450;NP_001124451;NP_001124452;NP_001124453;NP_001124454;NP_001124455;NP_001124456;NP_001124457;NP_001124458;NP_001124459;NP_003485;O75923;XP_005264641;XP_005264642 Hs.252180 1665200;1669952;1671952;1706178;1768495;1769499;2109263;2116156 A004Z44;DYSF_8789;RH12659;RH64958;SHGC-34247;SHGC-57586;SHGC-80615;WI-18239 FER1L1;FLJ00175;FLJ90168;LGMD2B;MMD1 OTTHUMP00000160176;OTTHUMP00000202233;OTTHUMP00000202234;OTTHUMP00000202235;OTTHUMP00000202236;OTTHUMP00000202237;OTTHUMP00000202238;OTTHUMP00000202240;OTTHUMP00000202241;OTTHUMP00000225471;OTTHUMP00000225494;dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive);dystrophy-associated fer-1-like 1;dystrophy-associated fer-1-like protein;fer-1-like family member 1;fer-1-like protein 1;limb girdle muscular dystrophy 2B (autosomal recessive) APPROVED protein-coding ENSG00000135636 HGNC:3097 04307 253601;254130;603009;606768 REVIEWED 1350351 DYX8 dyslexia susceptibility 8 ASSOCIATED WITH Dyslexia (inferred) 7240710 11424982;15108193 406874 HGNC:19951 608995 1344571 DZIP1L DAZ interacting zinc finger protein 1-like ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN cilium assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN centriole; ciliary basal body; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); all-trans-retinoic acid (ortholog); beta-naphthoflavone (ortholog) 3 3 3 q22.3 136205489 136259231 - 137780827 137834451 - 138061985 138115818 - 737633;6480464;8554872 12477932 12511597;14702039;19852954;21832049;21890473 199221 C9JD19;C9JRW2;H7C4G2;Q8IYY4 ABBA01059096;ABBA01059097;AC023049;AI283643;AK057406;AMYH02007763;AMYH02007764;BC033308;BQ424578;CH471052;DR001616;NM_001170538;NM_173543;XM_005247198;XM_005247199;XM_005247200;XM_006713526;XM_006713527 AAH33308;BAB71474;EAW79085;EAW79086;EAW79087;EAW79088;EAW79089;EAW79090;NP_001164009;NP_775814;Q8IYY4;XP_005247255;XP_005247256;XP_005247257;XP_006713589;XP_006713590 Hs.351403 1657096 RH65751 DZIP2;FLJ32844 DAZ interacting protein 1-like;DAZ-interacting protein 1-like protein;OTTHUMP00000216627;OTTHUMP00000216628;zinc finger protein DZIP1L APPROVED protein-coding ENSG00000158163 HGNC:26551 08145 VALIDATED 1346587 E11S ECHO virus (serotypes 4, 6, 11, 19) sensitivity ASSOCIATED WITH Echo Virus 11 Sensitivity (inferred) 7240710 1878 HGNC:3112 129150 1351922 DYX6 dyslexia susceptibility 6 ASSOCIATED WITH Dyslexia (inferred) 7240710 11743577 266691 1341022 D18S53 HGNC:19352 606616 1348982 E2F2 E2F transcription factor 2 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. [provided by RefSeq, Jul 2008] 1 1 1 p36 22162636 22187415 - 23832920 23857712 - 23506428 23531220 - 1580863;6480464;6907045 10727462;10766737;10965846;11719808;11733001;11799066;12145330;12411495;12477932;12502741;12566389;12748276;14702039;15017387;15489334;15574337;15706352;15716352;15735762;15861133;15949438;16169070;16360038;16710414;16951254;17135249;17341621;17380128;17588684;17916908;18345030;19074885;19142864;19322201;19690970;19738611;19748357;20226085;20418948;20819778;20855524;21048031;21988832;22125623;22344756;22531302;22999819;23297349;24397353;7739537;8246995;8246996;8657117;8657141;8657142;8755520;8832394;8846921;9144196;9190208;9688145;9694791 1870 Q14209;Q96ID7 ABBA01059875;AF086395;AF518877;AK092799;AK313939;AL021154;AMYH02000495;BC007609;BC053676;BT019523;CH471134;KF495899;L22846;NM_004091;XM_005245748;XM_005245749 AAA16890;AAH07609;AAH53676;AAM54044;AAV38330;BAG36658;EAW95055;EAW95056;EAW95057;EAW95058;NP_004082;Q14209;XP_005245805;XP_005245806 Hs.194333 1336186;1664403;2130564;2165324;5109281;5117989 D1S1425;D1S482;GDB:636071;RH78295;SHGC-74380;SHGC-74381 E2F-2 OTTHUMP00000003257;transcription factor E2F2 APPROVED protein-coding ENSG00000007968 HGNC:3114 02692 600426 REVIEWED 6481103 E2F3-IT1 E2F3 intronic transcript 1 (non-protein coding) 100874268 AL136303 ncrna HGNC:41329 1317042 DZIP1 DAZ interacting zinc finger protein 1 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN cilium assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN centriole; ciliary basal body; cytoplasm; INTERACTS WITH copper(2+) sulfate; cyclophosphamide; doxorubicin 13 13 13 q32.1 77078243 77144749 - 96230456 96296960 - 95578202 95644706 - 6480464;8554872 10231032;11991713;12477932;12511597;14702039;15081113;15489334;16344560;19852954;21878643;23402259;24072710;24993635 22873 B3KSP1;Q86YF9 AB023213;ABBA01027182;ABBA01027183;ABBA01027184;ABBA01027185;ABBA01027186;AF272347;AF272348;AF339791;AI470938;AK092363;AK094042;AK094990;AL049931;AL139376;AMYH02028523;BC011450;BC018744;BC037327;BC041804;BF981831;CH471085;DA782750;DR001764;NM_014934;NM_198968;XM_005254032;XM_006719916;XM_006719917;XM_006719918;XM_006719919;XM_006719920;XM_006719921 AAH18744;AAH41804;AAL36978;AAL36979;BAA76840;BAG52803;CAB43211;EAX08956;EAX08957;EAX08958;NP_055749;NP_945319;Q86YF9;XP_005254089;XP_006719979;XP_006719980;XP_006719981;XP_006719982;XP_006719983;XP_006719984 Hs.656580;Hs.742077 1339511;1684250;1689249;1700448;1705428;1736342;1738379;1753423;1758755;1772471;2129374;2141159;2150142;2161126;2173208;2217164;5021872;5022753;5491834 CLDN10;CLDN10_2929;D13S1156;D13S154;D13S654E;D13S846E;DZIP1;RH103845;RH13730;RH44774;RH71267;RH80102;RH99033;SHGC-107176;SHGC-3372;SHGC-83794;WI-15634;WI-22402;sY3084 DZIP;DZIPt1;KIAA0996;RP11-23E3.3 DAZ interacting protein 1;DAZ interacting protein testis1;DAZ-interacting protein 1/2;OTTHUMP00000018564;OTTHUMP00000018565;zinc finger DAZ interacting protein 1;zinc finger protein DZIP1;zinc-finger protein DZIPt1 APPROVED protein-coding ENSG00000134874 HGNC:20908 16363 608671 VALIDATED 1322749 DZANK1 double zinc ribbon and ankyrin repeat domains 1 This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. Alternative splicing has been observed for this gene but the full-length nature of additional variants has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 p11.23 18438090 18521918 - 18364011 18447995 - 18383367 18467348 - 6480464;8554872 10431175;11780052;12477932;14702039;16713569;19322201 55184 A1L3Z8;C9J2A8;Q9NVP4;V9GY46 ABBA01054045;ABBA01054046;ABBA01054047;AK001462;AK026306;AK055544;AK131451;AK295073;AK299746;AL049646;AL121893;AL158176;AMYH02036779;AMYH02036780;BC036231;BC130341;BC144153;CH471133;CR749327;DC323828;DQ104738;NM_001099407;XM_005260742;XM_005260743;XM_006723581;XM_006723582;XM_006723583;XM_006723584;XM_006723585 AAI30342;AAI44154;AAZ13595;BAA91706;BAB70949;BAD18596;BAH11962;BAH13117;CAH18182;EAX10242;EAX10243;EAX10244;EAX10245;EAX10246;NP_001092877;Q9NVP4;XP_005260799;XP_005260800;XP_006723644;XP_006723645;XP_006723646;XP_006723647;XP_006723648 Hs.472225 1650991;2114018;5015619;5015961;5037552 AB052150;D11S3114;D15S1477;D8S2279;STS-L42230 ANKRD64;C20orf12;C20orf84;DKFZp781J2425;FLJ10600;FLJ30892;bA189K21.1;bA189K21.8;dJ568F9.2 OTTHUMP00000030355;OTTHUMP00000030357;ankyrin repeat domain 64;ankyrin repeat-containing protein C20orf12;double zinc ribbon and ankyrin repeat-containing protein 1 APPROVED protein-coding ENSG00000089091 HGNC:15858 12742 VALIDATED 1602727 DZIP3 DAZ interacting zinc finger protein 3 ENCODES a protein that exhibits phosphatase binding; poly(A) RNA binding; polyubiquitin binding; INVOLVED IN protein polyubiquitination; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; all-trans-retinoic acid 3 3 3 q13.13 106705261 106810678 + 108308337 108413693 + 108589490 108694846 + 6480464;8554872 12477932;12511597;12538761;14702039;15489334;16344560;16713569;18206970;19389623;19549727;20562859;21139048;21890473;21903422;21906983;22053931;22493164;23000965;24326307;9734811 9666 C9J702;C9J9M8;C9JRX4;Q86Y13 AB014575;ABBA01061702;ABBA01061703;AC092185;AC092693;AF279370;AK023138;AK023389;AK294967;AK297451;AK303942;AMYH02007399;AX882609;AY227651;AY227652;AY227654;AY495710;BC012631;BC039018;BC056674;BC063882;BX495180;CH471052;CQ834634;DA494378;NM_014648;XM_005247914;XM_005247915;XM_005247916;XM_005247917;XM_005247918;XM_005247919 AAH39018;AAH56674;AAH63882;AAK69484;AAO72967;AAO72968;AAO72970;AAS75122;ACT64415;ACT64416;ADR82755;BAA31650;BAG51163;BAG58040;BAG59875;BAG64870;CAE91651;CAH05532;EAW79721;EAW79722;NP_055463;Q86Y13;XP_005247971;XP_005247972;XP_005247973;XP_005247974;XP_005247975;XP_005247976 Hs.409210 1730505;1784600;2109265;2112336;2163655;7184806 D3S4282;D3S587;DZIP3_8977;SHGC-111738;SHGC-64304 FLJ13327;FLJ57977;FLJ58022;FLJ58223;KIAA0675;PPP1R66;UURF2;hRUL138 DAZ interacting protein 3, zinc finger;DAZ-interacting protein 3;E3 ubiquitin-protein ligase DZIP3;OTTHUMP00000214428;OTTHUMP00000214430;RNA-binding ubiquitin ligase of 138 kDa;UURF2 ubiquitin ligase;human RNA-binding ubiquitin ligase of 138 kDa;protein phosphatase 1, regulatory subunit 66;zinc finger DAZ interacting protein 3 APPROVED protein-coding ENSG00000198919 HGNC:30938 10562 608672 VALIDATED 1345561 E2F3P2 E2F transcription factor 3 pseudogene 2 2 2 2 q33-q35 190614831 190616101 - 196855723 196860418 - 195990999 195995694 - 8246996 100420003;1873 ABBA01062450;AC104600;AMYH02005503;NG_023648 pseudo HGNC:3117 INFERRED 1345418 E2F3P1 E2F transcription factor 3 pseudogene 1 17 17 17 q11-q12 30727163 30731540 + 33817051 33821400 + 35490032 35494381 + 8246996 1872 ABBA01011230;AC015911;AMYH02033349;NG_005634 1686370;1775262;2116428 RH17438;RH45318;WI-22629 pseudo HGNC:3116 INFERRED 4109152 E2F4P1 E2F transcription factor 4, p107/p130-binding pseudogene 1 6 6 6 p21.2 41074866 41075989 + 39521593 39522716 + 39553817 39554940 + 100131899 ABBA01038314;AL035464;AMYH02013591;NG_022354 1298229;1685053;2156855 D6S2427;RH70934;STS-AA011442 pseudo HGNC:38684 INFERRED 1343869 DYX1C1 dyslexia susceptibility 1 candidate 1 This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011] 15 15 15 q21.3 32598522 32689024 - 55709953 55800432 - 55417755 55508234 - 1580863;6480464;7240710;8554872;8699517 12477932;12954984;14702039;15189447;15249932;15470369;15477871;15489334;15520411;15702132;16989952;17309662;17450541;18445785;18618141;19058789;19076634;19240663;19277710;19423554;19901951;20562859;20798984;20846247;21046216;21165691;21203818;21203819;21599957;22375924;22383464;22558177;22683091;23028439;23036959;23065966;23176554;23341075;23455924;23872636;24362368;8889548 161582 B4DY92;E5RJ13;Q8WXU2 ABBA01039021;ABBA01039022;ABBA01039023;ABBA01039024;ABBA01039025;AC013355;AC022083;AF337549;AK095201;AK302316;AMYH02030486;AMYH02030487;AMYH02030488;AMYH02030489;AMYH02030490;AMYH02030491;AMYH02030492;BC017392;BC062564;BM971229;CH471082;NG_021213;NM_001033559;NM_001033560;NM_130810 AAH62564;AAL73230;BAC04498;BAG63654;EAW77490;EAW77491;NP_001028731;NP_001028732;NP_570722;Q8WXU2 Hs.126403 1335559;1336839;1338535;1340891;1342033;1682662;1683621;1688096;1722287;1726519;1766713;5094202;7186143 D15S1049;D15S132;D15S143;D15S146;D15S994;G54607;G60057;G62640;RH64680;RH92020;RH94002;SHGC-149990 CILD25;DYX1;DYXC1;EKN1;FLJ37882;MGC70618;RD OTTHUMP00000162853;OTTHUMP00000227803;OTTHUMP00000227804;dyslexia susceptibility 1 candidate gene 1 protein APPROVED protein-coding ENSG00000256061 HGNC:21493 10568 127700;608706;615482 REVIEWED 1320122 E2F3 E2F transcription factor 3 This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 6 6 6 p22 21635267 21727062 + 20402137 20493945 + 20401906 20493714 + 1580863;6480464;6907045 10733529;10766737;10779352;10779353;10779361;10918599;11733001;11799066;11799067;11883935;11980909;12411495;12477932;12748276;14574404;14716298;15014447;15122326;15177020;15184867;15271987;15574337;15706352;15716352;15735762;15772702;16007192;16147992;16180235;16909110;16938365;16951254;16953223;17135249;17380128;17438371;17612494;17701752;17925491;18037967;18235226;18445275;18514338;18519660;18663357;18776222;18785023;18810376;19136625;19190782;19249677;19322201;19738611;19851314;19917728;20308562;20398657;20460525;20549700;20803551;20855524;20889924;21048031;21067862;21085677;21516127;21837779;22139708;22157815;22345517;22354972;22391204;22452920;22580460;22664654;22887716;22960857;22993445;23009996;23060449;23251661;23530192;23674142;23907129;23940108;23967867;24210184;24211326;24402082;25017995;7584044;7739537;8246996;8657117;8657141;8755520;8832394;8846921;9144196;9199321;9438389;9679057 1871 O00716;Q24JQ3 ABBA01022254;ABBA01022255;ABBA01022256;AF547386;AL132775;AL136303;AMYH02013259;AMYH02013260;BC016847;BC099908;BC114554;BU633769;CH471087;CR749285;D38550;NG_029591;NM_001243076;NM_001949;W38841;XM_005248865;XM_005248866;XM_005248868;Y10479 AAH16847;AAH99908;AAI14555;AAI56368;AAI72526;AAN17846;BAA07553;CAA71504;CAH18140;EAW55421;EAW55422;EAW55423;NP_001230005;NP_001940;O00716;XP_005248922;XP_005248923;XP_005248925 Hs.269408;Hs.703174 1686370;1689887;1775262;1788858;1794932;2116428;2140864;5110790 D6S1943;G67592;PMC85656P1;RH17438;RH25304;RH36412;RH45318;WI-22629 DKFZp686C18211;E2F-3;KIAA0075;MGC104598 OTTHUMP00000018012;transcription factor E2F3 APPROVED protein-coding ENSG00000112242 HGNC:3115 02693 600427 REVIEWED 730923 E2F1 E2F transcription factor 1 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008] 20 20 20 q11.2 29016324 29027242 - 32263292 32274210 - 33675486 33686404 - 1580863;1300306;1300304;1300305;1300307;2316262;6480464;6907045;8554872 15124020;15146237;18768156;8653789;8653790 10022926;10199402;10207050;10321733;10393912;10409740;10428966;10499802;10523633;10547281;10559858;10597240;10619024;10725332;10734134;10766737;10850422;10869426;10888886;10965846;11005809;11032021;11034214;11034215;11042687;11090181;11151061;11162393;11245432;11268000;11278247;11314038;11331592;11418595;11459832;11470869;11486038;11559366;11583618;11733001;11739724;11759817;11763345;11780052;11799066;11799067;11839806;11884602;11939591;12032846;12036888;12065415;12065845;12077144;12082609;12095638;12096339;12097298;12118073;12149244;12389032;12397079;12411495;12450794;12477932;12501191;12511608;12532331;12588705;12598654;12607600;12629508;12646190;12674510;12679318;12697828;12717439;12748276;12766778;12789260;12809602;12947005;12947120;12963846;12965081;1388726;1411535;1448092;14500729;14555651;14576432;14576433;14576826;14593116;14627987;14637159;14638867;14645238;14681231;14739777;14997382;15024084;15044096;15073182;15118916;15121871;15123636;15140942;15141164;15169882;15187102;15271987;15279795;15306814;15313206;15361834;15371422;15381253;15467735;15481443;15485814;15485920;15489334;15494392;15517862;15517914;15574337;15619620;15647840;15670817;15674331;15706352;15713665;15716352;15731768;15735762;15766563;15837424;15876874;15917652;15944709;15949438;15964998;16037820;16052233;16107498;16114066;16170383;16186801;16188218;16211008;16249186;16264179;16299810;16357170;16360038;16374512;1638634;1638635;16394138;16407216;16434972;16476732;16481740;16510138;16512785;16580749;16582589;16596252;16616919;16620391;16648476;16652153;16717102;16758952;16766265;16774918;16775429;16892051;16912047;16916939;16918502;16924238;16972274;16984923;17006541;17011204;17012841;17050006;17062573;17081983;17111193;17127213;17135249;17178887;17328667;17341621;17360686;17380128;17452331;17471231;17471234;17535433;17550982;17566113;17570542;17597480;17612494;17630509;17638866;17638884;17641417;17686574;17690688;17692085;17704056;17707233;17786044;17825503;17881156;17908821;17910524;17913805;17980157;18026993;18029348;18039672;18056168;18162579;18167336;18172256;18172323;18216119;18235226;18302937;18328430;18345030;18345034;18348166;18358829;18366763;18367454;18381203;18391203;18445313;18459177;18503552;18521079;18524851;18562691;18644370;18649360;18660514;18660752;18687701;18695912;18722373;18751386;18754770;18794899;18806759;18813780;18836483;18840615;19015243;19022773;19031698;19034270;19041685;19064572;19077036;19088195;19115249;19176033;19188449;19249677;19276347;19289176;19303924;19360352;19391166;19406837;19409758;19453261;19477924;19491197;19523927;19541929;19576172;19597470;19603101;19629135;19703789;19738611;19759023;19763085;19783986;19826915;19833767;19837943;19841979;19893569;19895738;19960022;20026813;20029046;20037816;20039540;20040599;20106982;20123965;20187294;20195357;20215421;20226085;20233728;20237430;20354121;20410059;20411301;20413589;20421545;20421650;20423997;20447425;20510161;20538716;20585447;20603083;20623644;20664976;20680651;20685653;20713352;20729920;20837136;20855524;20871633;20948288;20952509;20962268;20971808;21085491;21099295;21106062;21225257;21283628;21283765;21293853;21310950;21320024;21367750;21453717;21454377;21454583;21454803;21479363;21484256;21512314;21532622;21573702;21589897;21602887;21629784;21653699;21656380;21743494;21752283;21768773;21788450;21789246;21799732;21878508;21880590;21955916;21966451;22078878;22082156;22136275;22159227;22184068;22216287;22298593;22302879;22310660;22327218;22344756;22349817;22450712;22476863;22480684;22482402;22484283;22492316;22496453;22508987;22564666;22580462;22629304;22644489;22768064;22771493;22782351;22798430;22802261;22825328;22832221;22836579;22848730;22871739;22880102;22911364;22945643;22952705;22955272;23001041;23028047;23054209;23064264;23108995;23129428;23152437;23152504;23196386;23212661;23237560;23306062;23348237;23352642;23429261;23447575;23511556;23542036;23542171;23543735;23583198;23629655;23707559;23744542;23760264;23770852;23792570;23806799;23829315;23833190;23853093;23853115;23866847;23868976;23934193;23940755;23954287;23966291;23967231;24014029;24023875;24037896;24038122;24038143;24076217;24076372;24103329;24109597;24112038;24168400;24250222;24335704;24337320;24341432;24344198;24393368;24406621;24465681;24502362;24516045;24608861;24771265;24845566;24882622;24891616;24893334;24909689;24913980;25029110;7474112;7739537;7838523;7892279;7958836;7958856;7958924;7969176;8033208;8087847;8170954;8230483;8246996;8255752;8346196;8405995;8413249;8618861;8626527;8657117;8657141;8657142;8755520;8816502;8816797;8816798;8832394;8846921;8896460;8932363;8964493;9125176;9181131;9190208;9199321;9223517;9244350;9315635;9368006;9368098;9400991;9418871;9422723;9501179;9525916;9553123;9632788;9689056;9704927;9708738;9724724;9780002 1869 Q01094;Q9BSD8 ABBA01019223;AF086380;AF516106;AL121906;AMYH02036957;BC005098;BC050369;BC058902;CH471077;CS542419;CS566134;GN346970;HI179088;M96577;NM_005225;S49592;S74230;U47675;U47677 AAA35782;AAB24289;AAC50719;AAD14150;AAH05098;AAH50369;AAH58902;AAM47604;CAM91159;CAN37617;CAY56011;CBX53852;EAW76299;EAW76300;NP_005216;Q01094 Hs.654393 1677134;1791808;1793880;1794672;1794920;2166965 PMC126057P4;PMC303366P5;PMC344741P1;PMC85083P1;RH78379;RH80228 E2F-1;PBR3;RBAP-1;RBAP1;RBBP-3;RBBP3;RBP3 OTTHUMP00000030661;PRB-binding protein E2F-1;retinoblastoma-associated protein 1;retinoblastoma-binding protein 3;transcription factor E2F1 APPROVED protein-coding ENSG00000101412 HGNC:3113 01806 189971 REVIEWED 1323111 E2F4 E2F transcription factor 4, p107/p130-binding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51734300 51741053 + 67226068 67232821 + 67192165 67198918 + 1580863;6480464;6907045;8554872 10082561;10090723;10208422;10540350;10679953;10766737;10797289;10867026;10869426;11005809;11012981;11025371;11158323;11418595;11573202;11602203;11759817;11799066;11799067;12006580;12055184;12096339;12110166;12148576;12150994;12198120;12411495;12477932;12748276;12757710;12789259;12860972;12867425;14532282;15017387;15231644;15271987;15489334;15525513;15706352;15735762;15782160;15861133;15964557;16135806;16357170;16360038;16600870;16758952;16776654;16951254;17001309;17043659;17121828;17159899;17507799;17531812;17612494;17656449;17671431;17908821;17957245;18239623;18368381;18660489;19473719;19562678;19738611;19955219;20211142;20855524;21048031;21347282;21789246;21906983;21988832;22357515;22475873;22508987;22833565;23007606;23015403;23060449;23093672;23108140;24096481;24100580;24109597;7892279;7958924;7958925;8643455;8657117;8816797;8832394;9074408;9144196;9190208;9199321;9244350;9271426;9380698;9688145;9724731;9858615;9891079 1874 H3BMP3;H3BTM3;H3BVE4;I3L1B6;Q16254 AB451292;AB451425;ABBA01025432;AC040160;AF250378;AF527540;AMYH02032226;BC021050;BC031071;BC033180;BU857680;CH471092;HI179032;NM_001950;S75174;U15641;X86096 AAB32597;AAC50119;AAF65226;AAH33180;AAM77918;ABM83729;BAG70106;BAG70239;CAA60050;CBX53825;EAW83094;EAW83095;EAW83096;NP_001941;Q16254 Hs.108371 1674246;1674248;1685053;1795720;2157393;5118103 A006F26;AF021111;E2F4_601;G20763;G64266;RH70934 E2F-4 p107/p130-binding protein;transcription factor E2F4 APPROVED protein-coding ENSG00000205250 HGNC:3118 02806 600659 REVIEWED 6481422 EAF1-AS1 EAF1 antisense RNA 1 100873956 AC027125 APPROVED ncrna HGNC:42328 731057 E2F5 E2F transcription factor 5, p130-binding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionarily conserved domains that are present in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein is differentially phosphorylated and is expressed in a wide variety of human tissues. It has higher identity to E2F4 than to other family members. Both this protein and E2F4 interact with tumor suppressor proteins p130 and p107, but not with pRB. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008] 8 8 8 q21.2 82094939 82131798 + 86089619 86126753 + 85177384 85214518 + 1358139;1581726;1580863;737812;6480464;6907045 11030352;16325355 10783242;11319226;11756542;12089160;12150994;12789259;12860972;15146197;15271987;15342556;15735762;16172982;16360038;16600870;16951254;17531812;18385796;19124506;19259095;19615732;19738611;20181230;20639900;21048031;21274376;21906983;23377984;24324077;7760804;7892279;7958924;7958925;8589754;9144196;9190208;9464260 1875 C9JYE9;E5RHD4;H0YBK0;H0YBW8;Q15329 AB209185;ABBA01004010;ABBA01004011;ABBA01004012;AC011773;AI740797;AMYH02018349;AMYH02018350;AY162833;BM919591;BP224536;CH471068;CN312917;DB534924;HC250957;HC311146;KF573693;NM_001083588;NM_001083589;NM_001951;U15642;U31556;X86097;XM_006716434;Z78409 AAB00179;AAC50120;AAI56211;AAI72475;AAN46737;BAD92422;CAA60051;CAB01634;CBJ05776;CBJ21228;EAW87122;EAW87123;NP_001077057;NP_001077058;NP_001942;Q15329;XP_006716497 Hs.445758 1776082;1797490;2125751;2156722;2180191;5022651;5123517 D11S2921;E2F5_2517;G31115;RH16329;RH47002;SGC35072;SHGC-35383 E2F-5 OTTHUMP00000227505;OTTHUMP00000227506;OTTHUMP00000227507;OTTHUMP00000227508;transcription factor E2F5 APPROVED protein-coding ENSG00000133740 HGNC:3119 02983 600967 REVIEWED 1348626 E4F1 E4F transcription factor 1 The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. The full-length gene product represses transcription from the E4 promoter in the absence of E1A, while the 50-kDa form acts as a transcriptional activator in its presence. Alternative splicing results in multiple transcripts encoding different proteins. [provided by RefSeq, Jan 2014] 16 16 16 p13.3 2487988 2500164 + 2273490 2285743 + 2223488 2235742 + 1580863;6480464;6484113 10608806;10644996;10869426;12446718;12477932;12730668;14645522;14729613;15231747;15231748;15579445;15876874;16189514;16652157;17110336;17557114;21666599;2169022;21708927;24163401;8125298;8828041;9121437;9530632;9763670 1877 H3BN24;H3BQZ4;H3BSL4;H3BUJ7;Q66K89 AB209008;ABBA01030268;AC009065;AK225132;AK290329;AK296784;AMYH02031247;AMYH02031248;BC014068;BC080524;BE245277;BF312518;CH471112;DN998026;HI573882;HY006534;NM_001288776;NM_001288778;NM_004424;U87269;XM_005255155;XM_005255156;XM_006720857;XM_006720858;XR_243266;XR_429636 AAD09139;AAH80524;BAD92245;BAF83018;BAG59362;CBX47430;EAW85531;EAW85532;EAW85533;NP_001275705;NP_001275707;NP_004415;Q66K89;XP_005255212;XP_005255213;XP_006720920;XP_006720921 Hs.513268 1687113;2109271 E4F1_8318;RH91723 E4F;MGC99614;p120E4F;p50E4F putative E3 ubiquitin-protein ligase E4F1;transcription factor E4F;transcription factor E4F1 APPROVED protein-coding ENSG00000167967 HGNC:3121 04317 603022 REVIEWED 1605732 E2F6 E2F transcription factor 6 This gene encodes a member of a family of transcription factors that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 2 2 2 p25.1 11501299 11523094 - 11584501 11606303 - 11444375 11466177 - 6480464 11171983;12004135;12411495;12477932;12909625;14702039;15081404;15257658;15470680;15474455;15489334;15536069;15574595;15815621;15960975;16107498;16344560;16565076;16951254;17001316;17096023;17468742;17600109;17878947;17908821;18562691;18579589;19738611;20890043;21048031;21139048;21549307;21596310;21658281;21832049;21906983;21988832;22325352;22802528;22981205;23082233;23503679;23954429;24109597;24250222;8125298;9501179;9689056;9704927 1876 B7Z1I8;F8WC40;F8WEZ5;O75461;Q2Z196;Q2Z197;Q53YM3;Q6Q9Z5 ABBA01015651;AC099344;AF041381;AF059292;AF088059;AJ493061;AK096197;AK223159;AK223407;AK290413;AK293504;AMYH02003288;AMYH02003289;AU132447;AU142999;AY083996;AY083997;AY551345;AY551346;AY551347;AY551348;AY551349;AY551350;AY551351;BC008348;BC062610;BC107740;BI772069;BQ447956;BU076470;CH471053;DA609616;KF456636;KF495688;NM_001278275;NM_001278276;NM_001278277;NM_001278278;NM_198256;NM_212540;NR_103490;XM_005246154;XM_005246155 AAC14694;AAC31426;AAH08348;AAI07741;AAM10783;AAM10784;AAM10785;AAT02635;AAT02636;AAT02637;AAT02638;AAT02639;AAT02640;AAT02641;AAY14826;BAD96879;BAD97127;BAF83102;BAG53228;BAH11524;CAD37950;CAD37951;CAD37952;EAX00931;EAX00932;EAX00933;EAX00934;EAX00935;EAX00936;NP_001265204;NP_001265205;NP_001265206;NP_001265207;NP_937987;NP_997705;O75461;XP_005246211;XP_005246212 Hs.603093 1335056;1688138;5112047;5113417 D2S1400;RH65047;RH65166;SHGC-62972 E2F-6;MGC111545 E2F transcription factor 6, isoform 1;OTTHUMP00000115674;transcription factor E2F6 APPROVED protein-coding ENSG00000169016 HGNC:3120 04251 602944 REVIEWED 1605946 E2F8 E2F transcription factor 8 This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012] 11 11 11 p15.1 19378036 19394995 - 19245610 19263202 - 19224063 19241655 - 6480464;8554872 12477932;14702039;15722552;15897886;16179649;16344560;18202719;19201609;20068156;20211142;21832049;23064264;8125298;8889548 79733 A0AVK6;E9PMT9 AB231781;ABBA01061038;AC009652;AK026964;AK055206;AK225338;AK292688;AMYH02024405;BC028244;BC090877;BC108700;BC126400;BC126402;BM972658;BU164108;BX504614;CB959621;CH471064;DA758300;NM_001256371;NM_001256372;NM_024680 A0AVK6;AAH28244;AAH90877;AAI08701;AAI26401;AAI26403;ADR83430;BAB15605;BAE46901;BAF85377;EAW68354;NP_001243300;NP_001243301;NP_078956 Hs.523526 1676952;1767188 G35282;RH74495 E2F-8;FLJ23311 E2F family member 8;OTTHUMP00000231893;OTTHUMP00000231894;transcription factor E2F8 APPROVED protein-coding ENSG00000129173 HGNC:24727 10981 612047 VALIDATED 1320738 EAF1 ELL associated factor 1 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm; nucleus; transcription elongation factor complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; cobalt dichloride 3 3 3 p25.1 15407296 15422352 + 15469064 15484120 + 15427557 15442613 + 6480464 11418481;12477932;12686606;14702039;15489334;16006523;16114057;16341674;17081983;17395368;19322201;20161747;20431927;21729782;21832049;23455922 85403 F8WFA5;Q96JC9 AA626023;ABBA01025141;AC027125;AF272973;AK023217;AK304697;AK312330;AL698790;AMYH02006331;AW292089;BC029294;BC035167;BC041329;BI459315;BM836669;BM918150;BQ064584;CH471055;NM_033083;XM_005265518 AAH41329;AAK58687;BAG65467;EAW64234;NP_149074;Q96JC9;XP_005265575 Hs.716733 1683591;1788696;2112568;2112686;2157791 D3S4342;D3S4403;RH135807;RH45941;RH92973 ELL (eleven nineteen lysine-rich leukemia gene)-associated factor 1;ELL-associated factor 1;OTTHUMP00000160297 protein-coding ENSG00000144597 HGNC:20907 12209 608315 VALIDATED 7251896 EBAG9P1 estrogen receptor binding site associated, antigen, 9 pseudogene 1 10 10 10 95194499 95195109 - 101457096 101457706 - 99697339 99697949 - 100422254 ABBA01063245;AL133353;AMYH02023643;NG_025459 pseudo HGNC:45233 INFERRED 1321054 E2F7 E2F transcription factor 7 E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008] 12 12 12 q21.2 77080472 77124821 - 77415026 77459360 - 77021246 77065580 - 6480464;8554872 12477932;12893818;14633988;14702039;15133492;15897886;16344560;17200349;17353931;18202719;19223542;19240061;20819778;21248772;22802528;22802529;23054209;23096114;23184937;23853115;23974101;24057671;25036637 144455 F8VSE7;F8VXV5;H0YHW2;H0YIF4;Q96AV8 ABBA01053536;AC025161;AC079030;AI380315;AK023043;AK096316;AK097677;AMYH02026794;BC016658;BC017481;BC136366;BC136367;CH471054;DB159890;NM_203394 AAH16658;AAI36367;AAI36368;BAG53257;BAG53510;EAW97338;EAW97339;EAW97340;NP_976328;Q96AV8 Hs.416375 1714463;1764637;2109267 E2F7__7198;RH119742;SHGC-148227 E2F-7;FLJ12981 OTTHUMP00000242545;OTTHUMP00000242546;OTTHUMP00000242547;transcription factor E2F7 APPROVED protein-coding ENSG00000165891 HGNC:23820 10929 612046 VALIDATED 1349579 EBF1 early B-cell factor 1 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); protein dimerization activity (inferred); INVOLVED IN multicellular organismal development (inferred); positive regulation of transcription, DNA-templated (inferred); regulation of transcription, DNA-templated (inferred); PARTICIPATES IN DNA modification pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); atrazine 5 5 5 q34 154157410 154557967 - 158122916 158526788 - 158695908 159099780 - 1580863;6480464;8695944;8554872 24825349 10942392;11994467;12077253;12446759;12477932;12748286;14594818;14630787;14702039;15489334;15920012;16106032;16147992;16255771;16344560;17101802;20378664;20379614;20423929;20435627;20592035;20861858;21593590;21606506;21735360;21909110;21909115;22473956;23174882;23251661;23535729;23535733;23648065;23775715;23863747;23951143;7796816;8012110;8321284;8491377;8497258;9151733 1879 B4E2U8;E5RFQ1;Q9UH73 ABBA01044243;ABBA01044244;ABBA01044245;ABBA01044246;ABBA01044247;ABBA01044248;ABBA01044249;ABBA01044250;AC008442;AC008640;AC134043;AC136424;AC140770;AF208502;AK096708;AK123757;AK289712;AK303698;AK304438;AMYH02012578;AMYH02012579;AMYH02012580;AMYH02012581;AMYH02012582;AMYH02012583;AMYH02012584;BC019927;BC038805;BC041178;BM802733;CH471062;DB231236;KF458038;NM_001290360;NM_024007;NM_182708;XM_005265832;XM_005265833;XM_005265834;XM_006714827 AAF19643;AAH38805;AAH41178;ABZ92384;ACE87804;ACE87815;ACT64463;ACT64537;ADR82697;BAF82401;BAG64684;BAG65260;EAW61580;EAW61581;EAW61582;NP_001277289;NP_076870;NP_874367;Q9UH73;XP_005265889;XP_005265890;XP_005265891;XP_006714890 Hs.573143 1335462;1338897;1659954;1665951;1695470;1695602;1699924;1700454;1706722;1712729;1713303;1747879;1752391;1753053;1763867;1781022;1853770;2122227;2123119;2147123;2154105;2174328;2191471;5022729;5094971;7187611 A007K35;D21S1810;D5S1441;D5S2038;D5S2460;D5S412;EBF1;G66866;MARC_23656-23657:1029504842:1;RH103570;RH103848;RH120643;RH121062;RH48737;SHGC-106353;SHGC-147532;SHGC-68360;SHGC-68598;SHGC-78047;SHGC-80814;STS-T48161;TUDPEc277;WI-12566;WI-17761;bac5789T COE1;EBF;FLJ39389;FLJ41763;O/E-1;OE-1;OLF1 Collier, Olf and EBF transcription factor 1;OTTHUMP00000160817;OTTHUMP00000224200;OTTHUMP00000224217;early b-cell factor;olfactory neuronal transcription factor 1;transcription factor COE1 protein-coding ENSG00000164330 HGNC:3126 01256 164343 VALIDATED 1604541 EARS2 glutamyl-tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene belongs to the class-I aminoacyl-tRNA synthetase family and catalyzes the attachment of glutamate to tRNA(Glu). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 16 16 16 p12.2 22311508 22346870 - 23533334 23568696 - 23522013 23557375 - 6480464;6907045;8699517;8554872;7240710 10493829;11853319;12477932;14702039;15779907;16344560;18029348;19805282;20877624;21139048;21890473;22277967;22492562;24501781;24816145 124454 H3BPY3;H3BQI0;H3BQP8;H3BRF5;H3BTB7;I3L166;Q5JPH6 AB075850;ABBA01017063;ABBA01017064;ABBA01017065;ABBA01017066;AC002400;AF088053;AK095998;AL832489;AMYH02031702;BC020592;BC040013;BX648129;CA306283;CH471145;DA692403;KF456171;NG_027752;NM_001083614;NR_003501;XM_006721020 AAC05815;AAH40013;ACE86930;ACE87617;ADZ16051;BAB85556;BAG53194;CAI46121;EAW55821;EAW55822;EAW55823;EAW55824;EAW55825;NP_001077083;Q5JPH6;XP_006721083 Hs.620541 1649608;1676099;1729811;2122748;2160257 D16S316;RH65293;RH65694;SHGC-57880;WI-11144 COXPD12;KIAA1970;MSE1;gluRS glutamate tRNA ligase 2, mitochondrial;glutamate--tRNA ligase;glutamyl-tRNA synthetase 2, mitochondrial (putative);probable glutamate--tRNA ligase, mitochondrial;probable glutamyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000103356 HGNC:29419 612799;614924 REVIEWED 1320061 EAPP E2F-associated phosphoprotein This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. [provided by RefSeq, Jul 2008] 14 14 14 q13.1 14850138 14873965 - 34985135 35008943 - 34515929 34539737 - 6480464 11042152;12477932;14702039;15489334;15716352;15820313;16189514;16713569;17081983;17207965;18029348;18588995;19322201;20360068;21258403;21890473;21906983;21963094;23542036;23936387;8125298 55837 G3V2W9;G3V5N6;Q56P03 ABBA01061460;ABBA01061461;ABBA01061462;AF217512;AK000585;AK225467;AK225477;AK225991;AL445363;AMYH02028990;AMYH02028991;AY157300;AY157301;AY869694;BC001245;CD702290;CH471078;NM_018453;XM_005267858 AAF67623;AAH01245;AAO17041;AAO17042;AAX63200;ADQ31853;BAA91271;EAW65920;EAW65921;EAW65922;NP_060923;Q56P03;XP_005267915 Hs.433269 1857408;2117906;2123267;2127313 D14S665E;D14S694E;D14S827;RH44760 BM036;C14orf11;FLJ20578;MGC4957 OTTHUMP00000244146;OTTHUMP00000245837 APPROVED protein-coding ENSG00000129518 HGNC:19312 12631 609486 REVIEWED 736664 EAF2 ELL associated factor 2 ENCODES a protein that exhibits RNA polymerase II regulatory region sequence-specific DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Prostatic Neoplasms; FOUND IN transcription elongation factor complex; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; aflatoxin B1 3 3 3 q13.33 119963909 120015222 + 121554030 121605373 + 121835183 121886526 + 634486;1580863;6480464 12907652 11042152;12446457;12477932;12761297;15489334;16006523;16114057;17395368;18029348;19826414;20161747;20379614;21483694;21729782;24421387;24727455 55840 B4DWJ3;F8WCI9;F8WF04;Q96CJ1 ABBA01016476;AC072031;AC119736;AF217516;AF517829;AK301560;AMYH02007533;AY049020;BC014209;BC014589;BU941228;CH471052;NM_018456;XM_005247618;XM_005247620 AAF67627;AAH14209;AAL12223;AAO63811;ABM83574;ABM86813;BAG63055;EAW79497;EAW79498;NP_060926;Q96CJ1;XP_005247675;XP_005247677 Hs.477325 1774637 D3S3425 BM040;U19 ELL-associated factor 2;OTTHUMP00000215243;OTTHUMP00000215245;TRAITS;testosterone regulated apoptosis inducer and tumor suppressor;testosterone-regulated apoptosis inducer and tumor suppressor protein protein-coding ENSG00000145088 HGNC:23115 09634 607659 VALIDATED 1316400 EBAG9 estrogen receptor binding site associated, antigen, 9 This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor, which binds to the estrogen-responsive element found in the 5'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Alternate splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 10. [provided by RefSeq, Jul 2013] 8 8 8 q23 106739328 106764788 + 110551929 110578225 + 109539700 109565996 + 1580863;2289846;2289847;2289850;2289852;2289854;2289856;2289857;2289858;2289849;2289851;2298489;6480464 11742495;12054692;12160478;12845666;15164121;15867365;16112176;16112719;16842844;17187007;17845206 10426319;10873660;11298137;11435298;11705872;11743045;11992411;12138241;12477932;12672804;12774924;12888828;14514780;14534714;14981953;15144186;15254686;15460847;15489334;15592455;15635093;15808510;15813909;15904507;16012715;16113565;16175077;16211275;16273616;16595162;16907986;17081983;17187008;17250817;17466050;17516841;17562271;17604121;17717421;17825484;17849467;17981616;18029348;18032910;18292826;18688918;19030177;19032612;19122463;19337974;19574770;19634109;19813143;19953087;19957811;20079734;20164540;20570965;20571277;20645939;21804460;21845402;22460085;22530960;23164108;23563217;23881387;24119785;24250222;24816145;8889548;9418891 9166 E9PJ38;E9PJ40;E9PN10;E9PND3;O00559 AA812215;AB007619;ABBA01037714;AC079061;AF006265;AF264617;AI619447;AK290651;AK308950;AL515533;AMYH02018603;AMYH02018604;AP000427;AY515724;AY653072;BC005249;BC017729;BC022506;BG427211;BG616704;BG707115;BI194881;CA450508;CD108096;CH471060;CR456984;NM_001278938;NM_004215;NM_198120 AAB61617;AAH05249;AAH17729;AAH22506;AAR97974;AAU85838;ABM82390;ABM85568;BAA22572;BAF83340;CAG33265;EAW91932;EAW91933;EAW91934;NP_001265867;NP_004206;NP_936056;O00559 Hs.409368;Hs.632960 1645161;1735766;1857260 D8S1373E;D8S1940;RH36617 EB9;PDAF;RCAS1 OTTHUMP00000229416;OTTHUMP00000230543;OTTHUMP00000230546;OTTHUMP00000230548;cancer associated surface antigen;cancer-associated surface antigen RCAS1;estrogen receptor-binding fragment-associated gene 9 protein;receptor-binding cancer antigen expressed on SiSo cells APPROVED protein-coding ENSG00000147654 HGNC:3123 05775 605772 REVIEWED 1321920 EBF2 early B-cell factor 2 The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011] 8 8 8 p21.2 24663002 24864217 - 25699246 25902640 - 25841730 26045124 - 1580863;6480464;8554872 12139918;12477932;14702039;15489334;16344560;16368877;16421571;19671856;19913121;20379614;20628086;20734064;23535732;9151732;9151733 64641 B2RNT0;B7Z934;Q9HAK2 ABBA01005565;AC023566;AC090103;AI457889;AK001144;AK021562;AK093878;AK304372;AL701879;AMYH02017652;AMYH02017653;AU120738;AY700779;BC069665;BC069726;BC069747;BC069768;BC074794;BC113478;BC113504;BC137106;BC137107;BQ878633;BY798905;NG_030344;NM_022659 AAH69665;AAH69726;AAH69747;AAH69768;AAH74794;AAI13479;AAI13505;AAI37107;AAI37108;AAI48639;AAU10086;BAB13843;BAH14170;NP_073150;Q9HAK2 Hs.491292 1757833;1758001;1758187;1759995;1771028;1779410;1786572;1786694;2150593;2219788 D8S2100;EBF2__6165;SHGC-105000;SHGC-132170;SHGC-146658;SHGC-147075;SHGC-147617;SHGC-153401;SHGC-154399;STS-T69732 COE2;EBF-2;FLJ11500;O/E-3;OE-3 Collier, Olf and EBF 2;OLF-1/EBF-LIKE 3;OTTHUMP00000225118;OTTHUMP00000225119;metencephalon-mesencephalnon-olfactory transcription factor 1;transcription factor COE2 APPROVED protein-coding ENSG00000221818 HGNC:19090 16848 609934 REVIEWED 1346410 EBF3 early B-cell factor 3 This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011] 10 10 10 q26.3 125305470 125434003 - 131633496 131762546 - 129835232 129964282 - 634750;1580863;6480464;8554872 12355068 12477932;14702039;15164054;17018599;17353931;18559491;18845077;19996307;20029986;21387304;23728906;7566098;9151733 253738 H0Y3W9;Q9H4W6 AA330620;ABBA01009115;ABBA01009116;ABBA01009117;ABBA01009118;ABBA01009119;ABBA01009120;AK055710;AK097335;AK098025;AL354950;AL713797;AL832828;AMYH02024033;AMYH02024034;AMYH02024035;AMYH02024036;AMYH02024037;AMYH02024038;BC126130;BC130479;CH471066;NG_030038;NM_001005463;XM_005252667;XM_005252668;XM_005252669;XM_006717739;XM_006717740;XM_006717741;XM_006717742;XM_006717743;XM_006717744;XR_428703 AAI26131;AAI30480;ADR83053;CAH56225;EAW49159;EAW49160;EAW49161;NP_001005463;Q9H4W6;XP_005252724;XP_005252725;XP_005252726;XP_006717802;XP_006717803;XP_006717804;XP_006717805;XP_006717806;XP_006717807 Hs.591374 1695216;1725769;1754685;1782194;2116013;2152408;2166471;2181990 G62129;RH15737;RH47608;RH70721;SHGC-133039;SHGC-156134;SHGC-44559;SHGC-62923 COE3;EBF-3;O/E-2;OE-2 OTTHUMP00000020742;OTTHUMP00000020743;olf-1/EBF-like 2;transcription factor COE3 APPROVED protein-coding ENSG00000108001 HGNC:19087 16818 607407 REVIEWED 1625812 EBF4 early B-cell factor 4 EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008] 20 20 20 p13 2738001 2805248 + 2673524 2740754 + 2692878 2760108 + 6480464;8554872 10718198;11780052;12139918;12477932;21832049;22087225;22094256 57593 E9PEI2;Q7Z5T1;Q9BQW3;V9GYU8;X6R549 AB037863;ABBA01053796;ABBA01053797;ABBA01053798;AL035460;AMYH02036585;BC010557;BC019106;BC037555;BC054347;BG750986;CH471133;NM_001110514;XM_005260770;XM_005260771;XM_006723600 AAH19106;AAH54347;BAA92680;EAX10576;NP_001103984;Q9BQW3;XP_005260827;XP_005260828;XP_006723663 Hs.471955 1337861;1697638;1779266;2134137;5127931 D20S842;RH102332;SHGC-152338;SHGC-153198;WI-4715 COE4;EBF-4;KIAA1442;O/E-4;OE-4;RP5-860F19.3;olf-1/EBF-like 4 OTTHUMP00000030042;OTTHUMP00000221429;transcription factor COE4 APPROVED protein-coding ENSG00000088881 HGNC:29278 609935 PROVISIONAL 1353395 EBI3 Epstein-Barr virus induced 3 This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq, Sep 2008] 19 19 19 p13.3 4168924 4176909 + 4229540 4237525 + 4229318 4237546 + 5128488;6480464;6484113 21255010 12121660;12477932;14743498;15057824;15170639;15231748;15489334;16189514;18167155;18336908;18784808;19556516;21285006;21931777;22343630;22438968;22836044;23154182;23562195;23619469;23845089;23898208;23904441;24121041;24376289;24782489;8551575;934235;9342359 10148 Q14213 ABBA01056081;AC005578;AMYH02035280;BC015364;BC046112;CH471139;HH821931;HH821932;L08187;NM_005755;XM_006722605 AAA93193;AAC33488;AAH15364;AAH46112;ABM82515;ABW03382;CBX32665;CBX32666;EAW69244;EAW69245;NP_005746;Q14213;XP_006722668 Hs.501452 1712082;2131779;2177878 D19S988;G54090;STS-L08187 IL-27B;IL27B EBV-induced gene 3 protein;Epstein-Barr virus induced gene 3;IL-27 subunit beta;IL27 subunit;IL35 subunit;cytokine receptor;epstein-Barr virus-induced gene 3 protein;interleukin-27 subunit beta APPROVED protein-coding ENSG00000105246 HGNC:3129 12051 605816 REVIEWED 5132975 EBLN1 endogenous Bornavirus-like nucleoprotein 1 10 10 10 p12.31 22185479 22186648 - 22497743 22498912 - 22208814 22209983 - 20054395;20686665 340900 P0CF75 ABBA01034483;AL157831;AMYH02022430;CH471072;NM_001199938 EAW86159;NP_001186867;P0CF75 Hs.450519 EBLN-1 endogenous Borna-like N element 1;endogenous Borna-like N element-1;endogenous Borna-like N element-containing protein 1 protein-coding ENSG00000223601 HGNC:39430 613249 VALIDATED 1602876 EBLN2 endogenous Bornavirus-like nucleoprotein 2 INTERACTS WITH menadione; vincristine 3 3 3 p13 73044973 73046651 + 73110810 73112488 + 73061659 73063337 + 6480464 12477932;14702039;17353931;20054395;20686665 55096 Q6P2I7 ABBA01030959;AC103559;AK001075;AMYH02007066;AY036895;BC051316;BC064501;NM_018029 AAH51316;AAH64501;AAK83528;BAA91494;NP_060499;Q6P2I7 Hs.658858 2149822 SHGC-77110 EBLN-1;EBLN-2;FLJ10213 OTTHUMP00000231448;endogenous Borna-like N element 2;endogenous Borna-like N element-1;endogenous Borna-like N element-2 APPROVED protein-coding ENSG00000255423 HGNC:25493 07654 613250 PROVISIONAL 8661579 EBLN3 endogenous Bornavirus-like nucleoprotein 3 9 9 9 p13.2 37013186 37023745 + 37079893 37090398 + 37079896 37090401 + 12477932;14702039 100506710 ABBA01050408;AI146982;AK023696;AK091718;AL512604;AMYH02019483;BC032471;BC033624;BC080614;NR_036592 Hs.446271 pseudo HGNC:50682 PREDICTED 1347016 EBM epidermolysis bullosa, macular type ASSOCIATED WITH Bullous Dystrophy, Hereditary Macular Type (inferred) 7240710 1881 1338569;1702770;7183717 DXS102;DXS998 HGNC:3130 302000 1313990 EBNA1BP2 EBNA1 binding protein 2 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN ribosome biogenesis (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH all-trans-retinoic acid; atrazine; cobalt dichloride 1 1 1 p35-p33 41911953 41920349 - 43629845 43638241 - 43164174 43172570 - 1580863;6480464 10074103;10849420;11327720;11438656;11790298;12477932;12768013;12777385;15146197;15489334;15923612;16341674;17353931;18029348;18954305;18959818;19170763;20360068;21139048;21145461;21220517;21890473;21903422;21906983;21907836;21963094;22178446;22345443;22586326;22797925;22939629;22944692;22990118;23000965;23443559;23455922;23602568;23752268;24457600;24481446;24778252;24816145;2879624;7596406;7757816;8125298 10969 H7C2Q8;Q6IB29;Q99848 AB451256;AB451381;ABBA01050962;AK223455;AK295006;AK299476;AK307440;AL139138;AMYH02000895;BC009175;BC073924;BM791254;BT006920;CH471059;CN390915;CR456975;NM_001159936;NM_006824;R49106;U86602;Z40246 AAB46731;AAH09175;AAP35566;BAD97175;BAG58067;BAG61440;BAG70070;BAG70195;CAG33256;EAX07112;EAX07113;EAX07114;EAX07115;NP_001153408;NP_006815;Q99848 Hs.346868 1849613;2117460;2135659 D1S1758E;D1S1882E;RH11774 EBP2;NOBP;P40 EBNA1-binding protein 2;OTTHUMP00000008354;homolog of yeast EBNA1-binding protein;nuclear FGF3 binding protein;nucleolar protein p40;probable rRNA-processing protein EBP2 protein-coding ENSG00000117395 HGNC:15531 16849 614443 VALIDATED 1345811 EBP emopamil binding protein (sterol isomerase) The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008] X X X p11.23-p11.22 53278627 53285567 - 48379306 48387104 + 48521776 48528716 + 734908;1580863;2316868;2316857;6480464;7240710;8554872;8699517 10391218;12668600;16876788 10391219;10942423;11493318;12477932;12483303;12569389;12760743;15489334;15604093;15772651;16344560;17378690;17498944;17949453;18029348;18573709;18660489;19322201;20301468;21103663;21139048;21634086;21832049;21906983;21931045;21963094;21988832;22121851;24106871;24493593;7706302;8938429;9894009 10682 C9J719;C9JJ78;Q15125 ABBA01046010;ABBA01046011;ABBA01046012;ABBA01046013;AF196972;AMYH02039304;AU128761;AX814436;BC001549;BC001572;BC046501;CA488777;CH471224;CR456815;CR542094;KJ921656;NG_007452;NM_006579;Z37986 AAH01549;AAH01572;AAH46501;ABM82517;ABM85711;ABM85712;AIL31429;CAA86068;CAE83482;CAG33096;CAG46891;EAW50773;EAW50774;EAW50775;NP_006570;Q15125 Hs.30619 1660377;1660379;1668114;1682620;1702714;1771285;2109273;2133049;2152686;2217798 DXS7465E;EBP_9167;PORCN_3674;RH16246;RH17606;RH36014;RH46098;RH93495;SGC38390;SHGC-34488 CDPX2;CHO2;CPX;CPXD 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase;3-beta-hydroxysteroid-delta-8,delta-7-isomerase;Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome);D8-D7 sterol isomerase;OTTHUMP00000032393;OTTHUMP00000070508;OTTHUMP00000070509;cholestenol Delta-isomerase;delta(8)-Delta(7) sterol isomerase;emopamil-binding protein (sterol isomerase);sterol 8-isomerase APPROVED protein-coding HGNC:3133 02192 300205;302960 REVIEWED 1312086 EBPL emopamil binding protein-like ENCODES a protein that exhibits cholestenol delta-isomerase activity (inferred); INVOLVED IN sterol metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH benzo[a]pyrene; disodium selenite; formaldehyde 13 13 13 q12-q13 31289746 31320576 - 50234812 50265627 - 49660676 49691487 - 1580863;6480464;8554872 12477932;12760743;15489334;16368877;16806233;21988832 84650 Q6GPH7;Q9BY08 AA677833;ABBA01051022;ABBA01051023;AF243433;AL135901;AMYH02028014;BC018478;BC021021;BC073152;BC092471;BY799168;CA437822;CH471075;HH961778;NM_001278636;NM_032565;NR_103802;NR_103803 AAH18478;AAH73152;AAH92471;AAK28348;ABM82447;ABM85637;CBX51362;EAX08832;EAX08833;EAX08834;EAX08835;EAX08836;NP_001265565;NP_115954;Q9BY08 Hs.433278 1772808 WI-17526 EBRP;RP11-432M24.2 OTTHUMP00000018422;OTTHUMP00000018423;emopamil binding related protein, delta8-delta7 sterol isomerase related protein;emopamil-binding protein-like;emopamil-binding-related protein protein-coding ENSG00000123179 HGNC:18061 13258 VALIDATED 1345572 EBR3 epidermolysis bullosa 3, progressiva ASSOCIATED WITH Epidermolysis Bullosa Dystrophica Neurotrophica (inferred) 7240710 1884 HGNC:3136 226500 1354209 EBR4 epidermolysis bullosa 4, pseudojunctional (intraepidermal) 1885 HGNC:3137 1350056 EBS1 epidermolysis bullosa simplex 1 (Ogna) ASSOCIATED WITH Epidermolysa bullosa simplex and limb girdle muscular dystrophy (inferred); Epidermolysis Bullosa Simplex With Pyloric Atresia (inferred); Epidermolysis bullosa simplex, Ogna type (inferred) 7240710 HGNC:3138 131950;226670;612138;613723 1349413 EBVM1 Epstein Barr virus modification site 1 14526168;2843323 1887 HGNC:3142 1350687 EBVS1 Epstein Barr virus insertion site 1 ASSOCIATED WITH EPSTEIN-BARR VIRUS INSERTION SITE 1;EBVS1 EPSTEIN-BARR VIRUS INTEGRATION SITE (inferred) 7240710 6095452 1888 K02579 HGNC:3143 132850 1342653 ECA1 epilepsy, childhood absence 1 ASSOCIATED WITH Epilepsy, Absence (inferred) 7240710 50966 1334527;1338029;1338580 D8S1761;D8S502;D8S537 HGNC:3144 600131 1604642 ECD ecdysoneless homolog (Drosophila) ENCODES a protein that exhibits transcription coactivator activity (inferred); INVOLVED IN cell proliferation (inferred); regulation of G1/S transition of mitotic cell cycle (inferred); regulation of glycolytic process (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 2-methylcholine; arsenous acid; benzo[a]pyrene 10 10 10 q22.3 68179951 68213480 - 74894282 74927853 - 73134524 73168095 - 6480464 12477932;14702039;15128659;15489334;16341674;16344560;16385451;17081983;18818696;19919181;20211142;20360068;21139048;21163940;21890473;21906983;21963094;22113445;22270930;22797925;22939629;22977192;23880345;8125298;9928932 11319 C9J316;C9JGV1;F2Z2R1;O95905;S4R458 ABBA01020333;ABBA01020334;ABBA01020335;ABBA01020336;AC016394;AK022616;AK225519;AK315711;AMYH02023331;BC000721;BC103720;BM763002;CH471083;CR457407;D88208;DA162516;KF455256;NM_001135752;NM_001135753;NM_007265;NR_024203 AAH00721;ABM83098;ABM86292;BAA75199;BAG51097;CAG33688;EAW54477;EAW54478;NP_001129224;NP_001129225;NP_009196;O95905 Hs.631822 1681750 RH93350 GCR2;HSGT1 OTTHUMP00000019795;protein SGT1;protein ecdysoneless homolog;suppressor of GCR2;suppressor of S. cerevisiae gcr2 protein-coding ENSG00000122882 HGNC:17029 11032 VALIDATED 731823 ECE1 endothelin converting enzyme 1 The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009] 1 1 1 p36.1 19868639 19996910 - 21543740 21672034 - 21217247 21345541 - 1580902;1580904;734909;1580906;1580908;1580909;1580910;1580911;1580912;734910;1581735;1580863;735003;6480464;7240710;7243876;7244168;7244242;7243952;7243939;7243946;4892572;7244165;7244160;7244170;7243858;4892580;7244182;7244244;7244180;7244185;7244172;7244179;8699517;8554872 10073607;10401760;10894793;10973835;11043448;11078391;11145756;11893909;12193087;12972712;14627492;15126915;15340356;15485550;15733912;16170464;16741001;18385664;18586023;18767389;19371338;19596829;23600389;8575076;8994440;9449665;9595392;9607404;9649553;9915973 10438732;10491078;10620363;10833511;11723113;11906289;12011762;12244060;12393864;12464614;12477932;12609744;14597855;15010576;15146197;15240857;15342556;15489334;15665524;16023075;16234608;16263699;16289162;16344560;16526315;16531800;16567585;16698938;16710414;16986361;17081983;17264805;17295044;17545092;17592116;17618613;17664854;17701914;17712175;17761169;17897319;17977716;18029348;18039931;18334739;18660489;18781169;18974277;18992253;19056867;19222484;19289136;19531493;19889475;19913121;19946888;20037208;20301612;20345647;20346360;20485444;20538960;20558134;20628086;20663017;20725143;21139048;21554123;21777246;21851036;21906983;22027013;22268729;22322595;22416137;22693153;22728136;22731820;22939629;22972025;23022525;23175834;23251661;23283972;23360525;23863409;24000822;24026618;24812665;24898255;7695628;7805846;7864876;8062389;8530372;8641140;8889548;9253714;9396733;9449382;9595387;9710124 1889 B4DKB2;E9PHZ1;E9PJG1;E9PN99;P42892 A44623;AB031742;ABBA01059805;ABBA01059806;AF018034;AJ130828;AK290656;AK296486;AK304167;AK309677;AL031005;AL031728;AMYH02000445;AMYH02000446;AMYH02000447;AMYH02000448;AY953519;BC023596;BC041647;BC063506;BC106022;BC117256;BC126257;BP234532;BP337331;BU733112;BX648351;CH471134;CN298523;CN298525;D43698;D49471;DA436879;DA445355;DA445401;DB290492;KF495892;NG_013008;NM_001113347;NM_001113348;NM_001113349;NM_001397;X91922;X91923;X98272;XM_006710398;Z35307 AAD21221;AAI17257;AAI26258;AAX35820;ADR83113;BAA07800;BAA08442;BAA83687;BAF83345;BAG59124;BAG65053;CAA02807;CAA63015;CAA63016;CAA66922;CAA84548;CAB46443;EAW94957;EAW94958;EAW94959;EAW94960;EAW94961;EAW94962;EAW94963;EAW94964;EAW94965;EAW94966;NP_001106818;NP_001106819;NP_001106820;NP_001388;P42892;XP_006710461 Hs.195080 1338217;1644544;1644603;1690908;1733004;1733010;1733028;1738291;2126811;2191757;7183837 D1S1373;D1S1376;D1S1387;D1S478;D1S56;MARC_7137-7138:996687538:1;RH11;RH91799;SHGC-30327;SHGC-74323 ECE;ECE-1 OTTHUMP00000002724;OTTHUMP00000002725;OTTHUMP00000002726;OTTHUMP00000002727;OTTHUMP00000235323;endothelin-converting enzyme 1 APPROVED protein-coding ENSG00000117298 HGNC:3146 02690 145500;600423;613870 REVIEWED 1349338 ECE2 endothelin converting enzyme 2 This gene encodes a member of the M13 family, which includes type 2 integral membrane metallopeptidases. The encoded enzyme is a membrane-bound zinc-dependent metalloprotease. The enzyme catalyzes the cleavage of big endothelin to produce the vasoconstrictor endothelin-1, and plays a role in the processing of several neuroendocrine peptides. It may also have methyltransferase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 3 3 3 q27.1 182408209 182451576 + 183967445 184010819 + 184249657 184293031 + 1580863;6480464;8554872 11078322;11181995;11718899;12477932;12975309;16567585;17188679;17207965;17525706;17545092;19089949;19541930;19626040;20143331;20432672;20807771;21102462;21406445;21988832;22027013;22472876;22693153;23314748;23824909;9628581 9718 F8WCL9;H0Y5G8;O60344 AB011176;ABBA01058450;ABBA01058451;ABBA01058452;AC061705;AC078797;AF192531;AF428263;AF428264;AF521189;AK293713;AK293891;AK295270;AK296541;AK309236;AMYH02008305;AY359003;BC005835;BC012449;BC069005;BC142950;BU568980;CH471052;NM_001037324;NM_001100120;NM_001100121;NM_014693;NM_032331 AAG28399;AAH05835;AAH12449;AAH69005;AAI42951;AAI46831;AAL30386;AAL30387;AAM77664;AAQ89362;ADQ32839;BAA25530;BAG57280;BAG58256;BAG59165;BAH11577;EAW78273;EAW78274;EAW78275;EAW78276;EAW78277;EAW78278;EAW78279;NP_001032401;NP_001093590;NP_001093591;NP_055508;NP_115707;O60344 Hs.146161 1771576;2112582;2169422;5123568 D3S2399;D3S4350;RH12612;SHGC-77617 ECE-2;KIAA0604;MGC17664;MGC2408;MGC78487 OTTHUMP00000197815;OTTHUMP00000197816;OTTHUMP00000197817;OTTHUMP00000197818;OTTHUMP00000210688;OTTHUMP00000210689;endothelin-converting enzyme 2 APPROVED protein-coding ENSG00000145194 HGNC:13275 09931 610145 VALIDATED 731078 ECEL1 endothelin converting enzyme-like 1 This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] 2 2 2 q37.1 227108836 227116836 - 233344537 233352532 - 232479827 232487822 - 632557;734911;1580863;6480464;8699517;8554872;7240710 10400672;9931490 10698686;11352565;12477932;12632073;12975309;14992683;15489334;15815621;18192274;21963094;22268729;23113990;23236030;23261301;23500468;23808592;23829171 9427 H7C3M0;O95672 AB030579;AB073895;ABBA01002020;AC092165;AF307337;AJ130734;AMYH02005986;AY358923;BC050453;BM564570;CH471063;DQ114476;NG_034065;NM_001290787;NM_004826;Y16187 AAH50453;AAQ89282;AAY24101;AAZ22338;BAC66225;CAA76113;CAB86601;EAW70999;EAW71000;NP_001277716;NP_004817;O95672 Hs.26880 1699052 RH103101 DA5D;DINE;ECEX;XCE OTTHUMP00000164361;OTTHUMP00000203712;X converting enzyme;damage induced neuronal endopeptidase;endothelin-converting enzyme-like 1 APPROVED protein-coding ENSG00000171551 HGNC:3147 07066 605896;615065 REVIEWED 1354214 ECEL1P1 endothelin converting enzyme-like 1, pseudogene 1 11352565 260331 HGNC:14017 1343097 ECEL1P2 endothelin converting enzyme-like 1, pseudogene 2 2 2 2 q37.1 227014669 227015963 - 233250460 233251754 - 232385750 232387044 - 10698686;11352565;12477932 347694 ABBA01002021;AC068134;AJ250424;AMYH02005985;BC067110;NR_028501 Hs.452575 ECEL2 pseudo ENSG00000244280 HGNC:14019 VALIDATED 1343538 ECEL1P3 endothelin converting enzyme-like 1, pseudogene 3 2 2 2 q37.1 226980000 226980237 - 233215835 233216072 - 232351125 232351362 - 10698686;11352565 260332 ABBA01002021;AC068134;AJ250423;AMYH02005984;NG_002700 pseudo HGNC:14018 INFERRED 732278 ECH1 enoyl CoA hydratase 1, peroxisomal This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 36108519 36124956 - 39306062 39322497 - 38815422 38831857 - 68827;1300048;1580863;6480464 7558027 12477932;14500732;15383276;15489334;16169070;16482509;16615866;17081983;17676665;18029348;19946888;20178365;20186120;20877624;21081666;21139048;21565611;21832049;21890473;21906983;21988832;22002062;22939629;24255178;24583282;24816145;9417087 1891 M0QXS7;M0QZF6;M0QZW4;M0QZX8;M0R1A2;M0R248;M0R280;Q13011 ABBA01040702;ABBA01040703;ABBA01040704;AC008982;AC104534;AF030249;AK126566;AK291860;AK301211;AMYH02036082;AV738478;BC011792;BC014786;BC017408;BG527600;CH471126;NM_001398;U16660;XM_005258610 AAB86485;AAC50222;AAH11792;AAH17408;ABM83852;ABM87174;BAF84549;BAG62786;EAW56821;EAW56822;EAW56823;EAW56824;EAW56825;NP_001389;Q13011;XP_005258667 Hs.196176 2161026 D1S3539 HPXEL delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial;delta3,5-delta2,4-dienoyl-CoA isomerase;dienoyl-CoA isomerase;enoyl Coenzyme A hydratase 1, peroxisomal;enoyl coenzyme a hydratase 1;peroxisomal enoyl-CoA hydratase 1 APPROVED protein-coding ENSG00000104823 HGNC:3149 02825 600696 REVIEWED 1346197 ECHDC1 enoyl CoA hydratase domain containing 1 ENCODES a protein that exhibits carboxy-lyase activity (ortholog); INVOLVED IN metabolic process (inferred); FOUND IN extracellular vesicular exosome; cytosol (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; clorgyline 6 6 6 q22.33 128352141 128407019 - 127609857 127665214 - 127288712 127344069 - 1580863;6480464 12477932;14574404;14702039;15489334;16344560;17207965;18326623;19517271;19789366;20407466;21103663;21832049;21890473;21906983;22016388;23000965;24816145;8889548 55862 E9PIU8;E9PJS8;E9PLY6;E9PPG7;E9PRU6;F2Z2D6;H0Y525;H0Y5L2;H0YCS9;H0YD54;J3KP84;Q9NTX5 ABBA01025935;AF220192;AK021464;AK025760;AK025796;AK098146;AK303812;AL109939;AL834469;AMYH02014444;AMYH02014445;AMYH02014446;AX406016;BC003549;BE896631;BQ224769;BU684175;CH471051;DA846978;DC297239;EU668355;NM_001002030;NM_001105544;NM_001105545;NM_001139510;NM_018479;XM_005267047;XM_005267048;XM_005267049;XM_005267050 AAF67657;AAH03549;ACE86706;ACE87391;ACF94508;ADQ31866;BAH14056;CAD35123;CAD39128;EAW48101;EAW48102;EAW48103;EAW48104;EAW48105;EAW48106;EAW48107;EAW48108;NP_001002030;NP_001099014;NP_001099015;NP_001132982;NP_060949;Q9NTX5;XP_005267104;XP_005267105;XP_005267106;XP_005267107 Hs.486410 1673411;1677692;1684930;2124210;2164045 G31476;RH45158;RH67929;RH81056;SHGC-36270 DKFZp762M1110;FLJ40827;HEL-S-76;MMCD;dJ351K20.2 OTTHUMP00000017166;OTTHUMP00000017167;OTTHUMP00000017168;OTTHUMP00000017169;OTTHUMP00000017170;OTTHUMP00000017171;OTTHUMP00000017172;OTTHUMP00000017173;OTTHUMP00000232069;OTTHUMP00000232070;OTTHUMP00000232071;enoyl Coenzyme A hydratase domain containing 1;enoyl-CoA hydratase domain-containing protein 1;epididymis secretory protein Li 76;ethylmalonyl-CoA decarboxylase;methylmalonyl-CoA decarboxylase APPROVED protein-coding ENSG00000093144 HGNC:21489 13260 612136 VALIDATED 1349844 ECHDC2 enoyl CoA hydratase domain containing 2 ENCODES a protein that exhibits catalytic activity (inferred); lyase activity (inferred); INVOLVED IN fatty acid metabolic process (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (+)-catechin; 5-aza-2'-deoxycytidine; aflatoxin B1 1 1 1 p32.3 51649717 51675255 - 53361582 53392846 - 52895910 52921919 - 1580863;6480464;8554872 12477932;14702039;16344560;17137291;17207965;21832049;21988832;8889548 55268 B4DSN9;B7Z7N0;F5GWU3;F5H0R2;F5H2K9;F5H408;F5H4W3;Q86YB7 AA946561;ABBA01074752;ABBA01074753;AC099677;AF258590;AK001810;AK299834;AK300896;AK302285;AK307381;AK309535;AK310650;AK315906;AL832874;AMYH02001031;AMYH02001032;BC038389;BC040480;BC044574;BC051887;BX647186;BX648522;CF127686;CH471059;DA868944;NM_001198961;NM_001198962;NM_018281;XM_005271002;XM_006710739;XM_006710740;XM_006710741;XM_006710742;XM_006710743;XM_006710744;XM_006710745;XM_006710746;XM_006710747;XM_006710748;XM_006710749 AAG23793;AAH44574;AAH51887;ADQ32500;BAA91922;BAG61701;BAG62535;BAH13666;BAH14277;EAX06763;EAX06764;EAX06765;EAX06766;EAX06767;EAX06768;NP_001185890;NP_001185891;NP_060751;Q86YB7;XP_005271059;XP_006710802;XP_006710803;XP_006710804;XP_006710805;XP_006710806;XP_006710807;XP_006710808;XP_006710809;XP_006710810;XP_006710811;XP_006710812 Hs.476319 1657730;1846735;1854346;2116424;2119856;2178888;5015961;5020948;5021872;5022651;5024685;5037552;5093452 A007G48;A009P08;D11S2921;D15S1477;D1S3282;D8S2279;G32726;G35510;RH26813;RH70125;SGC34495;SHGC-54232;sY3084 DKFZp686F0985;DKFZp686K13244;FLJ10948;FLJ45240;FLJ51075;FLJ52213;FLJ52450;FLJ78805;FLJ99576;MGC57155 OTTHUMP00000010482;OTTHUMP00000010483;OTTHUMP00000010484;OTTHUMP00000238578;enoyl Coenzyme A hydratase domain containing 2;enoyl-CoA hydratase domain-containing protein 2, mitochondrial APPROVED protein-coding ENSG00000121310 HGNC:23408 07718 VALIDATED 1351756 ECHDC3 enoyl CoA hydratase domain containing 3 ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 5-fluorouracil; aflatoxin B1; all-trans-retinoic acid 10 10 10 p14 11712956 11734651 + 11784356 11806065 + 11742357 11764066 + 737633;6480464 12477932 15342556;20877624;24162737;8125298 79746 Q5W0J6;Q5W0J8;Q96DC8 ABBA01034683;AF275677;AF289604;AK024562;AK222511;AK290902;AL138898;AMYH02022130;BC001091;BC009617;BP332406;CH471072;NM_024693 AAG24387;AAH01091;AAH09617;AAL55788;BAB14928;BAD96231;BAF83591;EAW86340;EAW86341;EAW86342;NP_078969;Q96DC8 Hs.22242 1662878;1679039;1684246;1720047;5022578 D1S1423;RH123820;RH41844;RH98611;SHGC-30300 FLJ20909 OTTHUMP00000019084;OTTHUMP00000019085;OTTHUMP00000019086;enoyl Coenzyme A hydratase domain containing 3;enoyl-CoA hydratase domain-containing protein 3, mitochondrial APPROVED protein-coding ENSG00000134463 HGNC:23489 10930 VALIDATED 734312 ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008] 10 10 10 q26.2-q26.3 128330716 128341541 + 135175987 135186908 - 133362483 133373404 - 1300048;1580863;2317616;6480464;6907045 12379132 11271497;12358155;12477932;1286669;13295248;14557246;15164054;15489334;1602151;16130169;16169070;17353931;17395278;18029348;18624398;1988037;19913121;20562859;20628086;20877624;21139048;21800051;21890473;21906983;21988832;22863883;23000965;23178449;23275097;23416296;23879543;24583282;24816145;25027693;7669045;8012501;9073515 1892 P30084 ABBA01006213;ABBA01006214;ABBA01006215;AL360181;AMYH02024093;AMYH02024094;BC008906;BC013264;BE906357;BI091611;BQ130816;BT007123;CH471211;D13900;NM_004092;X98126;X98129 AAH08906;AAP35787;BAA03001;CAA66808;EAW61339;NP_004083;P30084 Hs.76394 1335572;1655811;1672671;1712196;1722949;1736004 D10S1291E;D10S1700;D10S2290;G54149;G60572;RH67939 SCEH OTTHUMP00000020811;enoyl Coenzyme A hydratase, short chain, 1, mitochondrial;enoyl-CoA hydratase 1;enoyl-CoA hydratase, mitochondrial;short-chain enoyl-CoA hydratase APPROVED protein-coding ENSG00000127884 HGNC:3151 03799 602292 REVIEWED 1352961 ECI1 enoyl-CoA delta isomerase 1 This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010] 16 16 16 p13.3 2504294 2516030 - 2289873 2302296 - 2239872 2251601 - 1580863;6480464 12107413;12477932;15351645;15489334;18781797;20186120;21139048;21832049;21890473;21906983;21917952;21988832;22939629;23874603;7818490;7829074;8198519 1632 H3BS70;P42126;Q96DC0 ABBA01030267;ABBA01030268;AC009065;AK291127;AMYH02031248;AMYH02031249;BC000762;BC002746;BC009631;BC019316;BC020228;BQ773923;CD675473;CH471112;L24774;NM_001178029;NM_001919;Z25820;Z25821;Z25822;Z25823;Z25824 AAA35485;AAH00762;AAH02746;AAH09631;AAH19316;AAH20228;BAF83816;CAA81065;CAA81066;EAW85523;EAW85524;EAW85525;NP_001171500;NP_001910;P42126 Hs.403436 1677480;1688588;1744203;1768846;2130645 GDB:437132;RH69048;RH71312;RH78468;SHGC-67834 DCI 3,2 trans-enoyl-CoA isomerase;3,2 trans-enoyl-Coenzyme A isomerase;3,2-trans-enoyl-CoA isomerase;3,2-trans-enoyl-CoA isomerase, mitochondrial;D3,D2-enoyl-CoA isomerase;OTTHUMP00000159049;acetylene-allene isomerase;delta(3),Delta(2)-enoyl-CoA isomerase;delta3, delta2-enoyl-CoA isomerase;dodecenoyl-CoA delta isomerase (3,2 trans-enoyl-CoA isomerase);dodecenoyl-CoA isomerase;dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase);enoyl-CoA delta isomerase 1, mitochondrial APPROVED protein-coding ENSG00000167969 HGNC:2703 02628 600305 REVIEWED 1607074 ECI2 enoyl-CoA delta isomerase 2 This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011] 6 6 6 p24.3 5344491 5364393 - 4115927 4135831 - 4115693 4135597 - 6480464 10354522;10419495;10508479;11230166;11256614;11337467;11916962;12097419;12477932;14574404;14702039;15217832;15489334;17192395;18029348;19615732;19834535;19946888;20178365;20877624;21832049;21890473;22002062;22261722;22939629;23251661;23455924;23824909;8125298;8889548 10455 C9JB63;F1LLU7;F8W6J1;F8WAW4;O75521 AB209917;ABBA01021999;AF069301;AF153612;AF244138;AF257175;AK057175;AK075108;AK222617;AK223003;AK297049;AL033383;AL136642;AMYH02013010;AU100345;AY297537;BC002668;BC008458;BC016781;BC017474;BC025287;BC033841;BC034702;BM671011;BQ653836;CH471087;CQ783146;CR456768;NM_001166010;NM_006117;NM_206836;NR_028588;XM_006714957 AAC19317;AAD34173;AAF66247;AAF68974;AAH02668;AAH16781;AAH17474;AAH33841;AAH34702;ACE86754;ACE86755;ACE86756;ACE87442;ACE87443;ACE87444;BAD93154;BAD96337;BAD96723;BAG52068;BAG59575;CAB66577;CAF86353;CAG33049;EAW55158;EAW55159;EAW55160;EAW55161;EAW55162;EAW55163;EAW55164;NP_001159482;NP_006108;NP_996667;O75521;XP_006715020 Hs.15250 1658219;1679251;2182043;5015861;5020948;7185938 D10S16;D6S1142E;G35510;RH70427;RH99317 ACBD2;DRS-1;DRS1;HCA88;KIAA0536;PECI;dJ1013A10.3 D3,D2-enoyl-CoA isomerase;DBI-related protein 1;OTTHUMP00000015976;OTTHUMP00000015978;OTTHUMP00000213829;OTTHUMP00000213830;acyl-Coenzyme A binding domain containing 2;delta(3),delta(2)-enoyl-CoA isomerase;diazepam-binding inhibitor-related protein 1;dodecenoyl-CoA isomerase;enoyl-CoA delta isomerase 2, mitochondrial;hepatocellular carcinoma-associated antigen 88;peroxisomal 3,2-trans-enoyl-CoA isomerase;peroxisomal D3,D2-enoyl-CoA isomerase;renal carcinoma antigen NY-REN-1 2289408 BW324_H APPROVED protein-coding ENSG00000198721 HGNC:14601 16269 608024 VALIDATED 1605731 ECM1 extracellular matrix protein 1 This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011] 1 1 1 q21 123596250 123602028 + 150480487 150486265 + 150508011 150513789 + 6480464;7240710;8554872;8699517 10733679;11165938;11292659;11929856;12477932;12603844;12604605;12761501;14550953;14702039;15990087;16274456;16335952;16344560;16512877;16646403;16713569;17721643;17927570;18200062;18438406;18443958;19068216;19199708;19219685;19230975;19275936;19519837;19521735;19734986;19861958;20014019;20805453;20870722;21128013;21139048;21349189;21791056;21988832;22489696;23602568;23682690;23696932;24023917;24163370;24259048;601588;9367673;9501329 1893 Q16610 ABBA01049347;AK097046;AK097205;AK292435;AK301369;AK302279;AK316390;AL356356;AMYH02001853;BC023505;CA413352;CH471121;DA963826;NG_012062;NM_001202858;NM_004425;NM_022664;U65932;U65938;U68186;U68187 AAB05933;AAB05934;AAB88081;AAB88082;AAH23505;ABM83937;ABM87256;BAF85124;BAG53412;BAG62911;BAG63622;BAH14761;EAW53544;EAW53545;EAW53546;EAW53547;NP_001189787;NP_004416;NP_073155;Q16610 Hs.81071 5021211 RH71248 URBWD OTTHUMP00000014932;OTTHUMP00000014933;OTTHUMP00000014934;secretory component p85 APPROVED protein-coding ENSG00000143369 HGNC:3153 03727 247100;602201 REVIEWED 8548277 ECM1P1 extracellular matrix protein 1 pseudogene 1 9 9 9 4694220 4695485 - 4768630 4769895 - 4768630 4769895 - 100420354 ABBA01065419;AL353151;AMYH02019078;NG_023776 pseudo HGNC:49736 INFERRED 1318155 ECM2 extracellular matrix protein 2, female organ and adipocyte specific ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 9 9 9 q22.3 65699616 65740268 - 95255829 95298374 - 92493547 92536092 - 1580863;6480464;8554872 11076863;11230166;12477932;15164053;15489334;15489336;16381901;8889548;9345023;9790758 1842 O94769;Q5T9F3;Q5T9F4 AB011792;ABBA01018585;ABBA01018586;AK296458;AK298278;AK303922;AK308485;AK312820;AL137848;AL157827;AMYH02021221;AMYH02021222;AMYH02021223;BC036806;BC105958;BC107493;BM972177;BX537976;CH471089;DC300418;NM_001197295;NM_001197296;NM_001393 AAH36806;AAI05959;AAI07494;BAA33958;BAG35677;BAG59105;BAG60538;BAG64850;CAD97940;CAL38001;EAW62824;NP_001184224;NP_001184225;NP_001384;O94769 Hs.117060 1664140;1671432;1755941;1850144 RH47432;RH69754;SHGC-142765;SHGC-34584 MGC126355;MGC126356 OTTHUMP00000021654;extracellular matrix protein 2;matrix glycoprotein SC1/ECM2 APPROVED protein-coding ENSG00000106823 HGNC:3154 09148 603479 REVIEWED 2303680 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 5 5 5 q31.2 134904524 134917004 - 138837129 138842320 - 139448556 139449174 - 6480464 12477932;14970008;18556573;19240791;19267780;19416853;19909249;21145461;21720547;22103489;22610502;23147565;23393131;23664449;23909426 641700 H0Y8G8;Q19T08 ABBA01026462;ABBA01068638;AC138517;AC142391;AC188049;AEKP01000946;AI699314;AMYH02012319;AMYH02012320;BC146912;BC146913;BF526332;BI834795;DQ462572;EU025066;NM_001077693;NM_001293739;NR_121659 AAI46913;AAI46914;ABE73209;ABW05062;NP_001071161;NP_001280668;Q19T08 Hs.483538;Hs.570903 ARIA;ECSM2 OTTHUMP00000223444;OTTHUMP00000223776;apoptosis regulator through modulating IAP expression;endothelial cell-specific chemotaxis regulator;endothelial cell-specific molecule 2 APPROVED protein-coding ENSG00000249751 HGNC:35454 615736 REVIEWED 1602709 ECSIT ECSIT signalling integrator ENCODES a protein that exhibits oxidoreductase activity, acting on NAD(P)H; INVOLVED IN oxidation-reduction process; regulation of oxidoreductase activity; PARTICIPATES IN mitogen activated protein kinase signaling pathway; FOUND IN cytoplasm; mitochondrion; nucleus; INTERACTS WITH disodium selenite; elemental selenium; selenium atom 19 19 19 p13.2 11511487 11534729 - 11616731 11639987 - 11505916 11529172 - 6480464;6907045 10465784;12477932;14633973;15761153;16169070;17344420;18029348;20877624;21150319;21163940;22588174;22939629;22982022;24250222 51295 J3KTF5;K7EIK2;K7EJG5;K7EJI1;K7EM98;K7EN32;K7EPL5;K7ESM8;Q9BQ95 ABBA01029842;ABBA01029843;ABBA01029844;ABBA01029845;AC008481;AF243044;AI336311;AI743680;AK314905;AMYH02035530;BC000193;BC005119;BC008279;BE791936;BU186092;CH471106;CR457204;NM_001142464;NM_001142465;NM_001243204;NM_016581;R46579 AAF62100;AAH00193;AAH05119;AAH08279;CAG33485;EAW84223;NP_001135936;NP_001135937;NP_001230133;NP_057665;Q9BQ95 Hs.515146 1681624;1734660;2176745 D19S665E;RH98319;STS-AA027810 ECSIT homolog;SITPEC;evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial;likely ortholog of mouse signaling intermediate in Toll pathway evolutionarily conserved;signaling intermediate in Toll pathway evolutionarily conserved ortholog;signaling intermediate in Toll pathway, evolutionarily conserved APPROVED protein-coding ENSG00000130159 HGNC:29548 12225 608388 VALIDATED 1318344 ECT2 epithelial cell transforming 2 The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 3 3 3 q26.1-q26.2 170871530 170938230 + 172468425 172539264 + 172750646 172829265 + 1580863;6480464 10579713;10837491;11756498;12376548;12376551;12477932;12761501;12787561;14587037;14668487;14702039;15254234;15545273;15642749;16103226;16118207;16129829;16170345;16236794;16247472;16344560;16352658;16778203;16803869;16862181;16964243;17115030;17395875;17474147;17488623;17688947;17942602;18201571;18511905;18642445;18842503;19008376;19015243;19118053;19468300;19468302;19617897;20360068;20734064;21124766;21139048;21189248;21373644;21474972;21886810;21906983;21963094;22172673;22514687;22552385;22683310;22898780;22990118;23251661;23601845;23851435;24198276;24484057;24784921;7665179;8464478;8889549 1894 C9J0L6;C9J1C4;C9JB41;C9JDB4;C9JDV9;C9JTI2;H7C103;H7C3G1;Q9H8V3 ABBA01058644;AC108667;AK001323;AK001515;AK023267;AK027713;AK308391;AK314581;AL137710;AMYH02008152;AMYH02008153;AY376439;BC006838;BC006987;BC070038;BC112086;CH471052;CS537870;DB229273;DC406772;DQ847274;JA063232;JA177518;JA210514;JA210625;JA385256;JA885911;JA886345;JA886779;JA887213;JB234910;JB243610;JB254225;JB257198;JB264119;JB276739;JB311550;JB313840;JB318834;JB359899;JB819634;JB820068;NM_001258315;NM_001258316;NM_018098;XM_005247176;XM_005247180;XM_006713523;XM_006713524 AAH06838;AAI12087;AAQ83675;ABH10140;BAA91624;BAB14498;BAB55317;BAG37157;CAB70886;CAM84950;CCA61729;CCA64133;CCA64578;CCA64581;CCB07385;CCQ77688;CCQ77697;CCQ77706;CCQ77715;CDH48194;CDH61616;CDH61670;CDH61689;CDH88987;CDH92525;CDH92539;CDH92550;CDH92797;CDH92894;CDI44669;CDI44678;EAW78460;EAW78461;NP_001245244;NP_001245245;NP_060568;Q9H8V3;XP_005247233;XP_005247237;XP_006713586;XP_006713587 Hs.518299 1340924;1680092;1697594;1723719;1761107;1853294;5015861;5015961;5037552;5109281;7184450;7185938 D10S16;D15S1477;D1S1425;D3S1556;D8S2279;G30172;RH102307;RH121430;RH91521;SHGC-145115 ARHGEF31;FLJ10461;MGC138291 OTTHUMP00000210539;OTTHUMP00000210684;OTTHUMP00000210685;OTTHUMP00000210686;epithelial cell transforming sequence 2 oncogene;epithelial cell-transforming sequence 2 oncogene APPROVED protein-coding ENSG00000114346 HGNC:3155 11860 600586 REVIEWED 1353624 ECT2L epithelial cell transforming 2 like ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 q24.1 139857349 139965590 + 139117248 139225207 + 138796111 138904070 + 6480464;8554872 12477932;16344560;20379614 345930 B7ZBI6;F5H7S9;Q008S8 ABBA01025802;ABBA01025803;ABBA01025804;ABBA01025805;ABBA01025806;AK304425;AL121834;AMYH02014585;AMYH02014586;BC146884;DB221732;DC415949;DC416153;DC418522;DN831912;DQ904331;DV080594;NM_001077706;NM_001195037;XM_006715472 AAI46885;ABI98401;BAH14180;NP_001071174;NP_001181966;Q008S8;XP_006715535 Hs.660603 1750437;5015619;5037552 D11S3114;D8S2279;SHGC-111749 ARHGEF32;C6orf91;FBXO49;LFDH;dJ509I19.2;dJ509I19.3;dJ509I19.5 ECT2-like;F-box protein 49;OTTHUMP00000017301;chromosome 6 open reading frame 91;epithelial cell transforming sequence 2 oncogene-like;epithelial cell-transforming sequence 2 oncogene-like;lung specific F-box and DH domain containing protein;lung-specific F-box and DH domain-containing protein;putative guanine nucleotide exchange factor LFDH APPROVED protein-coding ENSG00000203734 HGNC:21118 VALIDATED 1348155 EDA ectodysplasin A The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q12-q13.1 69189229 69612705 + 68835911 69259322 + 69616067 70039472 + 1598881;1580863;6480464;7240710;8554872;8699517 8696334 10469321;10484778;11035039;11039935;11167539;11309369;11378824;11416205;11780064;12270937;12477932;12673367;12682853;12920369;12930312;14656435;15489334;15663448;15772651;16423472;16583127;16752854;17102627;17256800;17478381;17970812;18076698;18427821;18545687;18633626;18657636;18666859;18688569;18702659;18821982;19127222;19278982;19438931;19504606;19551394;19590514;19623212;19657145;19816326;20195514;20236127;20237496;20301291;20486090;20501644;20628232;20979233;21091672;21357618;21457804;21724072;21916884;22004506;22008666;22835214;22875504;23293949;23603338;23625373;23626789;23704328;23744312;23926003;24312213;24554542;24722188;8554048;8889548;9487109;9507389;9630076;9683615;9736768 1896 D6RA95;Q92838 ABBA01067480;ABBA01067481;ABBA01067482;ABBA01067483;ABBA01067484;ABBA01067485;ABBA01067486;ABBA01067487;ABBA01067488;ABBA01067489;ABBA01067490;ABBA01067491;ABBA01067492;ABBA01067493;ABBA01067494;ABBA01067495;ABBA01067496;ABBA01067497;ABBA01067498;ABBA01067499;ABBA01067500;ABBA01067501;ABBA01067502;ABBA01067503;ABBA01067504;ABBA01067505;ABBA01067506;ABBA01067507;ABBA01067508;ABBA01067509;ABBA01067510;ABBA01067511;ABBA01067512;ABBA01067513;ABBA01067514;ABBA01067515;ABBA01067516;ABBA01067517;ABBA01067518;ABBA01067519;ABBA01067520;ABBA01067521;ABBA01067522;ABBA01067523;ABBA01067524;AC002416;AF003528;AF040628;AF060999;AF061189;AF061190;AF061191;AF061192;AF061193;AF061194;AK311532;AL158069;AL158141;AL392090;AMYH02039650;AMYH02039651;AMYH02039652;AMYH02039653;BC126143;BC144049;BC144051;BE892420;BQ008767;BQ422683;BU608133;CA433299;CH471132;FO393403;KF459137;KF459143;KF459150;KF459151;KF459153;KF459154;NG_009809;NM_001005609;NM_001005610;NM_001005612;NM_001005613;NM_001399;U59227;U59228;XM_006724630 AAB65831;AAC36302;AAC50678;AAC50679;AAC77363;AAC77371;AAC77372;AAC77373;AAC77374;AAC77375;AAC77376;AAI26144;AAI44050;AAI44052;EAX05360;EAX05361;EAX05362;NP_001005609;NP_001005610;NP_001005612;NP_001005613;NP_001390;Q92838;XP_006724693 Hs.105407 1650120;1651210;1655735;1672971;1679023;1702252;1702662;1702760;1702832;1702986;1732207;1733984;1770065;1778921;1793646;1849166;1858094;2110383;2115837;2129099;2138870;2160169 DXS106;DXS1162;DXS1325;DXS1422;DXS1690;DXS7625;DXS7773;DXS7791;DXS7845;DXS8269;DXS8270;DYS417;EDA_8319;G06856;L42647;L78108;PMC24264P5;RH41975;RH47751;RH70680;RH92962;WI-10638 ECTD1;ED1;ED1-A1;ED1-A2;EDA-A1;EDA-A2;EDA1;EDA2;HED;HED1;ODT1;STHAGX1;XHED;XLHED OTTHUMP00000023461;OTTHUMP00000023462;OTTHUMP00000217255;OTTHUMP00000217279;OTTHUMP00000232592;OTTHUMP00000232593;OTTHUMP00000232594;X-linked anhidroitic ectodermal dysplasia protein;ectodermal dysplasia protein;ectodysplasin-A;oligodontia 1 APPROVED protein-coding ENSG00000158813 HGNC:3157 02347 300451;305100;313500 REVIEWED 1344270 EDA2R ectodysplasin A2 receptor EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2011] X X X q12 66163047 66183441 - 65815479 65859140 - 66595637 66639298 - 1580863;6480464;8554872 11039935;12060722;12270937;12477932;12975309;15280356;15342556;15489334;16344560;16423472;17207965;18385763;19373488;19543321;19590514;20199557;20360068;20501644;21724072;21988832;22032556;22309448;23959643 60401 B2RBZ9;E7EUS4;Q9HAV5 ABBA01067134;ABBA01067135;ABBA01067136;ABBA01067137;ABBA01067138;ABBA01067139;ABBA01067140;ABBA01067141;AF298812;AK296264;AK299018;AK314881;AL353136;AMYH02039627;AMYH02039628;AY152724;AY358735;AY358736;BC034919;BP249106;CH471132;DA215848;DC368837;NG_013271;NM_001199687;NM_001242310;NM_021783;XM_005262285;XM_006724675;XM_006724676;XM_006724677;XM_006724678;XM_006724679;XR_244499 AAG28761;AAH34919;AAN73210;AAQ89952;AAQ89953;ADQ32117;BAG37396;BAG58977;BAG61098;EAX05382;NP_001186616;NP_001229239;NP_068555;Q9HAV5;XP_005262342;XP_006724738;XP_006724739;XP_006724740;XP_006724741;XP_006724742 Hs.302017 1649929;1729257;1764729;5491880 DXS7054;EDA2R;G64108;SHGC-148317 EDA-A2R;EDAA2R;TNFRSF27 EDA-A2 receptor;OTTHUMP00000023448;OTTHUMP00000023449;X-linked ectodysplasin-A2 receptor;XEDAR;tumor necrosis factor receptor superfamily member 27;tumor necrosis factor receptor superfamily member XEDAR APPROVED protein-coding ENSG00000131080 HGNC:17756 02230 300276 REVIEWED 1344202 EDAR ectodysplasin A receptor This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] 2 2 2 q13 103820860 103915790 - 109510927 109605828 - 108894471 108989372 - 1598883;1580863;6480464;7240710;8554872;8699517 10431241 11035039;11039935;11309369;11570810;11780064;11882293;11997580;12270937;12477932;14729942;15340161;15489334;16423472;16435307;17501952;17970812;18065779;18231121;18561327;18704500;19438931;19551394;19804850;19913121;20033817;20199431;20236127;20237496;20301291;20628086;20979233;21771270;22032522;23210707;23415220;24884697;9375732;9545409 10913 Q9UNE0 ABBA01000765;AC073415;AC092160;AC133784;AF130988;AF130996;AI017384;AK296936;AK313781;AMYH02004514;BC093870;BC093872;CH471182;CR749352;NG_008257;NM_022336;XM_006712204 AAD50076;AAD50077;AAH93870;AAH93872;ACE86805;ACE87492;BAG36519;BAG59487;CAH18205;EAW53868;EAW53869;NP_071731;Q9UNE0;XP_006712267 Hs.171971 1670262;1699424;1769405;2120046;2120448 RH103303;RH48148;RH78194;SGC44330;T02821 DL;ECTD10A;ECTD10B;ED1R;ED3;ED5;EDA-A1R;EDA1R;EDA3;FLJ94390;HRM1 EDA-A1 receptor;OTTHUMP00000161607;OTTHUMP00000203902;anhidrotic ectodysplasin receptor 1;downless homolog;downless, mouse, homolog of;ectodermal dysplasia receptor;ectodysplasin 1, anhidrotic receptor;ectodysplasin-A receptor;tumor necrosis factor receptor superfamily member EDAR APPROVED protein-coding ENSG00000135960 HGNC:2895 04974 129490;224900;604095;612630 REVIEWED 1351297 EDARADD EDAR-associated death domain This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 1 q42.3 209804771 209895082 + 236557680 236648008 + 236394380 236484708 + 1580863;6480464;7240710;8554872;8699517 11035039;11780064;11882293;11997580;12477932;14702039;16251197;16710414;20222921;20301291;20979233;21626677;22924441;22984994;9245989 128178 B1AL55;Q8WWZ3 ABBA01033160;ABBA01033161;ABBA01033162;ABBA01033163;AK096339;AK290862;AK291930;AK314634;AL136105;AL354693;AMYH02002968;AMYH02002969;AMYH02002970;AY028912;AY028913;AY028914;AY071862;BC006533;BC046928;BC114557;BC114560;BC128082;CH471098;NG_011566;NM_080738;NM_145861 AAI28083;AAK40285;AAK40286;AAK40287;AAK40288;AAL60590;BAF83551;BAF84619;BAG37197;EAW70047;EAW70048;EAW70049;EAW70050;EAW70051;EAW70052;NP_542776;NP_665860;Q8WWZ3 Hs.352224 1335924;1337070;1337355;1723715;1758769;2113648;2115092;2138454;2166998;2189903 99-13794;AB072753;D1S1680;D1S2678;D1S2680;D1S2850;D1S3450;D1S372;RH121427;SHGC-150737 ECTD11A;ECTD11B;ED3;EDA3 EDAR-associated death domain protein;OTTHUMP00000037857;OTTHUMP00000037858;OTTHUMP00000037859;crinkled homolog;ectodysplasia A receptor associated death domain;ectodysplasin A receptor associated adapter protein;ectodysplasin-A receptor-associated adapter protein APPROVED protein-coding ENSG00000186197 HGNC:14341 05965 129490;224900;606603;614940;614941 REVIEWED 1604794 EDC3 enhancer of mRNA decapping 3 EDC3 is associated with an mRNA-decapping complex required for removal of the 5-prime cap from mRNA prior to its degradation from the 5-prime end (Fenger-Gron et al., 2005 [PubMed 16364915]).[supplied by OMIM, Mar 2008] 15 15 15 q24.1 51872834 51938502 - 74922899 74988386 - 74630558 74696045 - 6480464 12477932;14702039;15225602;15324660;15489334;15498874;16344560;16364915;16964243;17353931;17533573;17923697;18678652;19285948;19615732;19946888;20360068;20811636;21139048;21490707;21890473;22483619;23891004;24255178;24778252;25036637;8125298 80153 H3BMB8;H3BNJ7;H3BPN4;H3BPW9;H3BQ37;H3BQA1;H3BQP5;H3BSQ0;H3BTD6;H3BTF8;H3BTH0;H3BU87;Q96F86 ABBA01060496;ABBA01060497;ABBA01060498;ABBA01060499;AC091230;AC100835;AF193058;AK024781;AK056339;AK225099;AL133447;AMYH02030795;AMYH02030796;AMYH02030797;BC011534;BC021271;BM999594;CA440205;CH471136;DA168050;DB007958;NM_001142443;NM_001142444;NM_025083 AAG22486;AAH11534;AAH21271;BAB15001;BAG51682;EAW99316;EAW99317;EAW99318;EAW99319;NP_001135915;NP_001135916;NP_079359;Q96F86 Hs.682454;Hs.96852 1689855;1847246;1847248;1847774;1854367;2144487 A006F45;G20776;RH11281;RH44478;RH65889;RH93055 FLJ21128;FLJ31777;LSM16;YJDC;YJEFN2 LSM16 homolog (EDC3, S. cerevisiae);OTTHUMP00000183472;enhancer of mRNA decapping 3 homolog;enhancer of mRNA-decapping protein 3;hYjeF_N2;hYjeF_N2-15q23;yjeF N-terminal domain-containing protein 2;yjeF domain containing;yjeF domain-containing protein 1;yjeF_N2 APPROVED protein-coding ENSG00000179151 HGNC:26114 07954 609842 VALIDATED 1606564 EDC4 enhancer of mRNA decapping 4 INVOLVED IN exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (inferred); gene expression (inferred); mRNA metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasmic mRNA processing body; intracellular membrane-bounded organelle; membrane; INTERACTS WITH 2-methylcholine; diazinon; genistein 16 16 16 q22.1 52415411 52426818 + 67906926 67918417 + 67873023 67884514 + 6480464;8554872 12477932;15231747;16364915;18029348;19380743;19454010;19946888;20360068;21139048;21347282;21672539;21890473;21903422;21906983;21988832;22190034;22399527;22505724;22586326;22863883;22982864;23000965;24147044;24332808;24457600;24510189;24550385;24639526;24778252;24816145;25036637;7520377;9067524 23644 I3L0V0;I3L2F4;I3L3M2;Q6P2E9 ABBA01025463;AC040162;AI076562;AI631525;AK128582;AK291049;AK302563;AMYH02032244;BC043616;BC053598;BC064567;BX445706;CH471092;DC403765;L26339;NM_014329;U17474 AAA21833;AAB51444;AAH43616;AAH53598;AAH64567;BAF83738;BAH13744;EAW83183;NP_055144;Q6P2E9 Hs.75682 1648916;1776945;2119482;2150761;2178126 D16S3182;RH79122;SHGC-60839;SHGC-74292;STS-N52770 GE1;Ge-1;HEDL5;HEDLS;RCD-8;RCD8 OTTHUMP00000174847;autoantigen Ge-1;autoantigen RCD-8;enhancer of mRNA-decapping protein 4;human enhancer of decapping large subunit protein-coding ENSG00000038358 HGNC:17157 06911 606030 VALIDATED 1354159 EDDM3A epididymal protein 3A Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1074990 1077430 + 21214099 21216539 + 20745940 20748380 + 1580863;6480464 11715855;12477932;15489334;17207965;24337645;7514008;9685187;9739419 10876 Q14507;W0UTC5 AA769825;ABBA01061235;AL163636;AMYH02028826;BC069407;BC096698;BC096731;BC098164;BC098356;BC106711;BC106712;CH471078;HG328849;NM_006683;X76383 AAH69407;AAH96698;AAH96731;AAH98164;AAH98356;AAI06712;AAI06713;ADQ32872;CAA53971;CDG31925;EAW66444;NP_006674;Q14507 Hs.304757 2107071;2118223 FAM12A__7624;RH70907 EP3A;FAM12A;HE3-ALPHA;HE3A;HE3ALPHA;MGC119614;MGC119615;RAM1 OTTHUMP00000164018;epididymal secretory protein E3 alpha;epididymal secretory protein E3-alpha;epididymis-specific 3 alpha;family with sequence similarity 12, member A;human epididymis-specific 3 alpha;human epididymis-specific protein 3-alpha;ribonuclease A M1 APPROVED protein-coding ENSG00000181562 HGNC:16978 13289 611580 VALIDATED 1344731 EDDM3B epididymal protein 3B Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1097447 1099968 + 21236586 21239107 + 20768427 20770948 + 1580863;6480464 11715855;12477932;12975309;18029348;24337645;7514008;9685187;9739419 64184 P56851;W0UV31 ABBA01061235;AI075915;AL133371;AL163636;AMYH02028826;AX192189;AY358865;BC128030;BX112699;CH471078;HC006942;HC044705;HG328850;NM_022360;X76386 AAI28031;AAQ89224;CAC17141;CAC51312;CBH19276;CBH30682;CDG31926;EAW66443;NP_071755;P56851 Hs.525202 EP3B;FAM12B;HE3-BETA;HE3B;RAM2 OTTHUMP00000028281;epididymal secretory protein E3 beta;epididymal secretory protein E3-beta;family with sequence similarity 12, member B (epididymal);human epididymis-specific 3 beta;human epididymis-specific protein 3-beta;ribonuclease A M2 APPROVED protein-coding ENSG00000181552 HGNC:19223 13290 611582 VALIDATED 1350520 EDDM3CP epididymal protein 3C, pseudogene 2 2 2 q21 128789749 128790370 - 135077125 135077746 - 134319554 134320175 - 7514008 266643 ABBA01028192;AC016906;AMYH02004832;NG_002367;NG_030324;X76387 FAM12CP;HE3-GAMMA APPROVED pseudo HGNC:19224 INFERRED 3516429 EDDM3DP epididymal protein 3D, pseudogene 14 14 14 q11.2 1063618 1064054 + 21202718 21203519 + 20734559 20735360 + 100128220 ABBA01061235;AL163636;AMYH02028826;NG_028961 1719933 RH123659 APPROVED pseudo HGNC:37707 INFERRED 1349759 EDEM1 ER degradation enhancer, mannosidase alpha-like 1 ENCODES a protein that exhibits misfolded protein binding; INVOLVED IN ER-associated ubiquitin-dependent protein catabolic process (ortholog); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN integral component of endoplasmic reticulum membrane (ortholog); INTERACTS WITH arsenous acid; atrazine; copper(2+) sulfate 3 3 3 p26.1 5167241 5199525 + 5229359 5261650 + 5187674 5219965 + 1580863;6480464;6907045 11375934;12477932;12610305;12610306;15146197;15489334;15579471;16449189;16629899;17353931;17360537;17380188;17499246;18303019;18452703;19266160;19322201;19524542;19934218;20065073;21062743;21388347;21632540;21917589;22678362;22905195;23233672;24037343;24664425;9039502 9695 F8WE67;F8WER9;Q92611 ABBA01020456;ABBA01020457;AC026202;AK292643;AK298511;AK302065;AMYH02006189;BC019088;CH471055;CN364698;D86967;NM_014674;XM_006713424;XM_006713425;XR_245168 AAH19088;ABM83604;ABM86847;BAA13203;BAF85332;BAG60717;BAG63455;EAW63925;EAW63926;NP_055489;Q92611;XP_006713487;XP_006713488 Hs.224616 2106473;2121559;2158706;2172626 AL023479;EDEM1__4792;SHGC-76673;STS-N23299 EDEM;FLJ51559;FLJ51560;KIAA0212 ER degradation enhancing alpha mannosidase-like;ER degradation-enhancing alpha-mannosidase-like 1;ER degradation-enhancing alpha-mannosidase-like protein 1;OTTHUMP00000206910;OTTHUMP00000206911 protein-coding ENSG00000134109 HGNC:18967 09644 607673 VALIDATED 1354312 EDEM2 ER degradation enhancer, mannosidase alpha-like 2 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008] 20 20 20 q11.22 30452013 30484015 - 33703160 33735161 - 35115357 35147358 - 6480464;6907045 11780052;12477932;12975309;14702039;15342556;15489334;15537790;15579471;16169070;17499246;18303019;20802025;21822266;21906983;22703881;24250222;25092655;8619474;9110174 55741 B4E1F4;Q9BV94 ABBA01019169;AF086313;AI919497;AK001645;AK023931;AK096016;AK293583;AK298794;AK300212;AK303816;AL135844;AL356652;AMYH02036988;AMYH02036989;AY007088;AY358580;BC001371;BC016184;BP297100;BU188881;CH471077;CR457266;NM_001145025;NM_018217;NR_026728 AAH01371;AAH16184;AAQ88943;BAA91806;BAB14731;BAG57052;BAG60931;BAG61981;BAG64766;CAG33547;EAW76225;EAW76226;EAW76227;EAW76228;NP_001138497;NP_060687;Q9BV94 Hs.720177 1661757 STS-W73797 C20orf31;C20orf49;FLJ10783;bA4204.1 ER degradation-enhancing alpha-mannosidase-like 2;ER degradation-enhancing alpha-mannosidase-like protein 2;ER degradation-enhancing-mannosidase-like protein 2;OTTHUMP00000030728 APPROVED protein-coding ENSG00000088298 HGNC:15877 09841 610302 VALIDATED 1353394 EDEM3 ER degradation enhancer, mannosidase alpha-like 3 Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008] 1 1 1 q25 157770616 157835009 - 184659625 184724041 - 184690491 184754907 - 6480464;6907045;8554872 11318611;12477932;14702039;15537790;15579471;16344560;16431915;16710414;17499246;18303019;20360068;21890473;22190034;22268729;23251661;8125298 80267 H0Y498;Q7L2Y5;Q9BZQ6 ABBA01027730;ABBA01027731;AF288393;AI521228;AK000945;AK023095;AK225171;AK315118;AL096819;AL117441;AMYH02002294;BC016464;BC070173;BC105586;BC144149;BC144150;CH471067;DA724785;DB292148;NM_025191;XM_005245499 AAG60613;AAH16464;AAI05587;AAI44150;AAI60020;BAA91438;BAB14402;BAG37573;CAB55926;EAW91178;EAW91179;EAW91180;EAW91181;EAW91182;EAW91183;NP_079467;Q9BZQ6;XP_005245556 Hs.523811 1650580;1850223;2155815;2181312 RH48990;SHGC-53072;SHGC-76042;SHGC-76050 C1orf22 ER degradation-enhancing -mannosidase-like protein 3;ER degradation-enhancing alpha-mannosidase-like 3;ER degradation-enhancing alpha-mannosidase-like protein 3;OTTHUMP00000033398;alpha-1,2-mannosidase EDEM3;chromosome 1 open reading frame 22 APPROVED protein-coding ENSG00000116406 HGNC:16787 10724 610214 VALIDATED 1317635 EDF1 endothelial differentiation-related factor 1 This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 9 q34.3 110270359 110274526 - 139756566 139760788 - 136862114 136866336 - 1580863;6480464 10469174;10567391;10816571;12040021;12477932;15112053;15164053;15489334;16567061;16880509;17709345;18029348;20972266;21139048;21782027;21890473;21900206;21906983;22939629;23000965;24816145;7566098;8164657;9813014 8721 O60869 AA325420;AB002282;AB002283;ABBA01022726;AL355987;AMYH02021914;BC015500;BI833652;BM800379;BQ279031;BT009863;CH471090;CR541914;CS185530;HH770500;HH770560;HY029111;HY086994;HY170122;NG_029208;NM_001281297;NM_001281298;NM_001281299;NM_003792;NM_153200 AAH15500;AAP88865;ABM82503;ABM85696;BAA88073;BAA88074;CAG46712;CAJ42711;CBX85963;CBX85993;EAW88296;EAW88297;EAW88298;NP_001268226;NP_001268227;NP_001268228;NP_003783;NP_694880;O60869 Hs.174050 1735890;2127391 D9S1009E;D9S2053 EDF-1;MBF1;MGC9058 OTTHUMP00000022616;OTTHUMP00000022617;OTTHUMP00000022618;multiprotein bridging factor 1;multiprotein bridging factor-1;multiprotein-bridging factor 1 APPROVED protein-coding ENSG00000107223 HGNC:3164 09235 605107 REVIEWED 1343635 EDIL3 EGF-like repeats and discoidin I-like domains 3 The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008] 5 5 5 q14 79143254 79585747 - 83236414 83680685 - 83940595 84384867 - 1580863;6480464;8554872 11959660;12074641;12477932;18090124;19292890;19578876;20237162;20360068;20379614;20857535;20950786;21890473;22138694;22388320;22601780;23000965;23364949;23419831;23602568;23720494;24388013;24416060;9420328 10085 O43854 AA053720;ABBA01062086;ABBA01062087;ABBA01062088;ABBA01062089;ABBA01062090;AC010600;AC020936;AC020938;AC026440;AC093296;AC109496;AK302942;AK312858;AMYH02011718;AMYH02011719;AMYH02011720;AMYH02011721;BC030828;BC053656;BQ101116;BX648583;CH471084;DB504385;ES308783;KC877032;KF510923;NM_001278642;NM_005711;U70312;U70313 AAC02648;AAC02649;AAH30828;AAH53656;ACE86684;ACE86718;ACE87368;ACE87404;BAG35710;BAH13851;EAW95916;EAW95917;EAW95918;NP_001265571;NP_005702;O43854 Hs.482730 1334922;1339269;1341125;1660285;1730385;1752593;1753465;1755073;1779384;1785252;2123433;2134872;2160423;2162076;2162515;2181803;2185710 1404;D5S107;D5S1498;D5S1716;D5S2641;D5S450E;D5S459;G10681;G10695;RH48797;RH78282;SHGC-104015;SHGC-106458;SHGC-107388;SHGC-142009;SHGC-14406;SHGC-153373 DEL1;MGC26287 EGF-like repeat and discoidin I-like domain-containing protein 3;OTTHUMP00000147588;OTTHUMP00000222402;developmental endothelial locus-1;developmentally-regulated endothelial cell locus 1 protein;integrin-binding protein DEL1 APPROVED protein-coding ENSG00000164176 HGNC:3173 09350 606018 REVIEWED 730848 EDN1 endothelin 1 The protein encoded by this gene is proteolytically processed to release a secreted peptide termed endothelin 1. This peptide is a potent vasoconstrictor and is produced by vascular endothelial cells. Endothelin 1 also can affect the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 6 6 6 p24.1 13518582 13525484 + 12290529 12297427 + 12290296 12297194 + 734914;1625065;1331525;734913;734910;1580863;1580323;1625064;2313283;2313284;2313279;2313278;2313280;2313281;2313282;4144128;4145079;4144838;4144859;4144877;4144879;4144880;4144829;4144849;4144854;4144858;4144881;4144885;4144892;4144886;4144891;4145066;4145070;4144866;4144887;4144895;4145069;4144835;4144845;4144855;4144889;4145071;4144848;4144901;4145074;4144843;4144882;4145073;4144865;4144130;4144841;4145062;4145072;4144852;4145063;4833436;4144857;4144868;4144954;2302065;4145075;2292142;4892577;4892580;4892591;4892595;4892599;4892579;4144869;4144902;4145067;6480464;6484113;8661804;7244167;8662298;8661716;8661755;8662296;8661796;8661800;8661803;8661689;8661801;8699517;8662288;8661662;8661674;8661682;8662268;8661757;8662302;8662284;8661735;8662324;8661736;7240710;8661676;9068929;8661797;8661798;8662320;8662299;8661738;8661688;8662387;1625312;8662402;8661732;8661756;8554872;1580921;8661699;8661705;8662294;8662297;8661692;8662310;8661680;8661710;2312288;8661695;8661730 10026353;10199843;10217661;10445603;10543394;10573185;10601118;10838194;10854676;10973842;11078355;11206318;11230327;11285964;11430925;11518857;11593097;11601021;11668616;11831453;11927217;12581682;12629276;12646761;12887768;12941866;14556009;15031170;15118671;15124920;15185300;15664691;16129094;1618274;16741035;16806235;16810072;17198911;17214938;17255858;17357073;17420087;17444275;17880366;17893002;18346810;18351623;18442442;18496905;18516100;18580062;18586023;18600494;18631350;18722366;18806884;18831711;18923236;19000375;19262391;19286964;19293263;19358249;19358946;19513693;19581418;19730395;19967049;20005906;20373895;20409845;20498147;20516397;20529344;20547970;20559433;20562228;20588001;20589171;20628425;20628429;20647310;20666571;20707291;20733093;20888384;20889845;20890431;21946544;2198188;22249931;22406080;22669310;22729434;23347081;23974951;7653485;7771559;7968078;8099638;8113329;8149524;8152482;8256914;8441230;8569091;8764295;8845175;9132327;9175058;9176845;9279246;9284832;9595474;9649553;9893116;9973223 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1906 P05305;Q6FH53 ABBA01022112;AK226096;AK291838;AK307089;AK313914;AL548191;AMYH02013116;AW044634;AY434104;BC009720;BC036851;BG540968;BM680754;BQ009676;BX439515;CA306604;CH471087;CR541903;J05008;M25380;M25549;NG_016196;NM_001168319;NM_001955;S56805;Y00749;Z98050 AAA52338;AAA52339;AAA52407;AAB25760;AAH09720;AAQ96600;ABM81907;ABM85081;BAF84527;CAA68718;CAG46701;EAW55313;EAW55314;EAW55315;EAW55316;NP_001161791;NP_001946;P05305 Hs.511899;Hs.713645 1659823;2138389 A006R11;WI-7563 ARCND3;ET1;HDLCQ7;PPET1;QME OTTHUMP00000016038;endothelin-1;preproendothelin-1 APPROVED protein-coding ENSG00000078401 HGNC:3176 07030 131240;612798;615706 REVIEWED 737548 EDN2 endothelin 2 This gene encodes a member of the endothelin protein family of secretory vasoconstrictive peptides. The preproprotein is processed to a short mature form which functions as a ligand for the endothelin receptors that initiate intracellular signaling events. This gene product is involved in a wide range of biological processes, such as hypertension and ovulation. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] 1 1 1 p34 40227695 40233596 - 41944446 41950348 - 41478775 41484673 - 1580915;1580916;1580917;1580918;1580919;1580921;1580920;1625402;1580863;6480464;6484113;8554872 10489105;10573185;10598486;10976780;11947982;1479622;15007037;9015697 10438732;10494802;10750028;11187978;12184531;12207323;12477932;12516960;1345052;1446139;15059899;15489334;15619356;15691296;16493522;1652300;16714215;16754659;16879056;1701397;1713452;1725334;1725387;17445867;17997104;18037749;1816758;1840558;18818748;19019335;1917960;19336370;19527488;19527514;19913121;20028935;20140262;2018043;20628086;2201681;22047647;22727793;22865632;22921304;23518706;24043815;24763822;2649896;7509938;7509960;8323558;8345469;8671207;8697704;8821821;8982507;9085198;9164966;9284755;9422810;9492062;9588179;9675146;9696419;9826183 1907 P20800 ABBA01023147;AL445933;AMYH02000869;AY518541;BC034393;BI761655;CH471059;M25550;M65199;NM_001956;S63516;S63833;S63834;S63835;S63836;S63837;S63838;X55177;XM_005270566;XM_006710400 AAA52340;AAA52404;AAH34393;AAR89914;CAA38962;EAX07175;NP_001947;P20800;XP_005270623;XP_006710463 Hs.1407 1795726;2145858 EDN2_27;SHGC-74658 ET-2;ET2;PPET2 OTTHUMP00000007075;endothelin-2;preproendothelin 2;preproendothelin-2 APPROVED protein-coding ENSG00000127129 HGNC:3177 07173 131241 REVIEWED 1344952 EDN3 endothelin 3 The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Four alternatively spliced transcript variants encoding three distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 20 20 20 q13.2-q13.3 54616141 54641690 + 57875499 57901047 + 59300444 59325992 + 1601001;1601002;1601003;1580863;6480464;6484113;7240710;8554872;8699517 8630502;8696331;9359047 10231870;10438732;10770212;10884419;11106284;11303518;11780052;11982704;12189494;12477932;1464662;14669347;15489334;15691296;1610811;16423827;16754659;17009072;1713452;17207965;17554617;18346402;18577758;18722093;18832450;1889823;1917960;19183406;19430479;19527488;19556619;19764030;19913121;20009762;20028935;2018043;20301600;20301612;20495744;20538960;20628086;2178974;21813388;21909110;21909115;22013079;2226872;22865632;22876130;22921304;23515723;23753411;23904381;24379252;2509452;2649896;7509919;7881755;8001160;8298278;8630503;8632985;8982507;9257865;9284755;9359036;9696419 1908 P14138;Q4FAT2 ABBA01005965;AL035250;AMYH02037380;AY444503;BC008876;BC053866;BT007085;CH471077;DQ096281;J05081;M25551;NG_008050;NM_000114;NM_207032;NM_207033;NM_207034;S50864;S50866;X52001;XM_005260312;XM_005260313;XM_005260314;XM_006723734 AAA52341;AAA52405;AAH08876;AAH53866;AAP35748;AAR16083;AAZ03610;ADQ31587;CAA36252;EAW75434;EAW75435;EAW75436;EAW75437;NP_000105;NP_996915;NP_996916;NP_996917;P14138;XP_005260369;XP_005260370;XP_005260371;XP_006723797 Hs.1408 1666715;1673757;1728983;1771969;1784362;1795728;2144438;2160002 D20S1073;D2S2882;EDN3_1730;Edn3;SHGC-132082;STS-X52001;WI-17085;WI-18958 ET-3;ET3;HSCR4;MGC15067;MGC61498;PPET3;WS4B OTTHUMP00000031420;OTTHUMP00000031421;OTTHUMP00000031422;OTTHUMP00000174458;endothelin-3;preproendothelin-3;truncated endothelin 3 APPROVED protein-coding ENSG00000124205 HGNC:3178 00570 131242;209880;613265;613712 REVIEWED 737537 EDNRA endothelin receptor type A This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 q31.22 145723204 145787202 + 148402069 148466106 + 147480917 147544954 + 1580946;1580947;1580948;1580949;1580950;1580952;1580945;1580863;734916;4144877;4892322;4892284;4892584;4892320;4892325;4892326;4892572;4892336;4892580;4892306;2292142;4892282;2313280;4892579;4892286;4892283;4145067;4892591;4892595;4892288;4892323;6480464;6484113;7244179;7244242;7240710;8699517 10192234;11078391;11376172;11601839;12524016;12972712;14616768;14729387;15107459;15243299;16002759;16543720;17214938;17420087;17448648;17597600;18506008;18586023;18600494;18632188;19286964;19358946;19371338;20028935;20083432;20144075;20409845;20531217;20562228;20690982;21183790;21191784 10448102;10770212;10789830;11262386;11382773;11930911;11982704;12082592;12477932;12544508;12595285;12629276;12768436;12875994;1291713;1326535;1415318;14519635;14636059;15041798;15047866;15073116;15139053;15187089;15213100;15489334;15713850;15838262;15838285;15838315;15838329;15838364;15838366;15838367;15851553;15988412;16149067;16208144;16344560;1652463;16531800;16567585;16582543;1659806;16618267;16648553;16754659;16816835;16879994;16947775;16962346;16971893;16984730;17016617;17122448;17198909;1719979;17203161;17353514;17437213;17468950;17470272;17525706;17575543;17616673;17616694;17706018;18172451;18187620;18212505;18326801;1849646;18577758;18660489;18678984;18756291;18945538;19202075;19217622;19225824;19247692;19367425;19460784;19479828;19558538;19575782;19578796;19593212;19601701;19626996;19653178;19898645;19913121;20034471;20043107;20100616;20150570;20346360;20371740;20401344;20485444;20538960;20628086;20725140;20963824;20964792;21057729;21220476;21356562;21418087;21424380;21453125;21487064;21498912;21515378;21601190;21773759;21909108;22106312;22129540;22286173;22365955;22480520;22510270;22561246;22580289;22688668;22997346;23058564;23064961;23217151;23233754;23251661;23384184;23436727;23515723;23683481;23754170;23818293;23987636;24064210;24262325;24291390;24627317;24856242;7509919;7882989;8114678;8427579;8440682;8611157;8702836;8982507;9211925;9284755;9645692 1909 AAB24923;P25101 ABBA01070057;ABBA01070058;AC093908;AF014826;AK304451;AK312812;AK315931;AMYH02010273;AMYH02010274;AMYH02010275;AY275462;AY422989;BC022511;BQ006584;CD723797;CH471056;D11151;D90348;DA183901;DA775295;DA956937;L06622;NG_013343;NM_001166055;NM_001256283;NM_001957;NR_045958;S45956;S55772;S57498;S63938;S67127;S81539;S81542;S81545;X61950 AAA58447;AAB20278;AAB20407;AAB23644;AAB24923;AAB25212;AAB25530;AAB36325;AAB36326;AAB36327;AAB94859;AAH22511;AAP32294;AAQ87880;ABM83255;ABM86458;BAA01920;BAA14359;BAG35670;BAG65268;BAH14302;CAA43953;EAX05017;EAX05018;EAX05019;EAX05020;EAX05021;NP_001159527;NP_001243212;NP_001948;P25101 Hs.183713 1646639;1772627;1795250;2117792;2137472;2148378;2155118;2159088;5126231 D18S1266;D4S3266;EDNRA_29;G10643;RH48922;SHGC-53255;SHGC-59477;SHGC-59478;SHGC-67921 ET-A;ETA;ETA-R;ETAR;ETRA;hET-AR G protein-coupled receptor;OTTHUMP00000220090;OTTHUMP00000220091;OTTHUMP00000220093;endothelin A receptor;endothelin ET-A receptor;endothelin receptor subtype A;endothelin receptor, ET1-specific type;endothelin-1 receptor;endothelin-1-specific receptor APPROVED protein-coding ENSG00000151617 HGNC:3179 00571 131243;157300 REVIEWED 736090 EDNRB endothelin receptor type B The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 13 13 13 q22 59367540 59390895 - 78469616 78549664 - 77895481 77975529 - 1580945;1580946;1580948;1580949;1580951;1580952;1601006;1601008;1581890;1580863;4144877;4892577;4892289;4892284;2313280;4892290;4892332;4892324;4892591;4892595;4892288;4892321;4892579;628515;1581866;6480464;6484113;7240710;8554872;8699517 10192234;10487491;12524016;14729387;15243299;15245576;15245872;16002759;17110505;17214938;17470272;18091567;18600494;18632188;18722366;19286964;20144075;20409845;20562228;21048781;8001158;8570650;8634719;8852658 10072757;10090908;10510297;10528251;10789830;11376172;11471546;11565556;11601839;11829485;11854280;11891690;11920632;11930911;11982704;12117726;12135322;12189494;12207323;12226103;12355085;12439722;12477932;12544508;12628594;12629276;12694195;1282938;12875994;1291713;12972292;14519635;14636059;14669347;15073116;15213100;15350137;15489334;15598844;15838263;15838285;15950764;15988412;16145050;16328051;1648908;16531800;16567585;1659806;16754659;16816835;16944573;16947775;16962346;17009072;17011274;1710450;1713452;17202412;17203161;17353514;17525706;17535295;17554617;17611649;17616673;17618893;17855483;18060649;18157142;18162831;18187958;18310504;18411415;18535108;18551992;18564167;18577758;18660489;18756291;18758497;18778461;19040731;19136571;19148482;19320733;19536618;19558538;19661472;19706169;19757321;19767294;19853744;19913121;20009762;20028935;20034471;20043107;20108069;20162572;20301612;20346360;20401344;20427706;20495744;20595785;20628086;20698855;20703215;20798208;21057729;21116278;21223556;21264540;21356562;21418087;21498912;21507037;21547364;21601190;2175394;21770857;21777246;21825025;21858821;22013079;22213152;22341591;22365955;22504006;22535604;22553998;22580289;22688668;22787113;22865454;22965194;22997346;23384184;23436727;23515723;23518706;23548203;23579558;23637120;23683481;24039914;24145738;24265756;24275556;24326135;24357795;24379252;24482377;24511587;7509919;7987295;8001160;8429023;8440682;8630503;8810293;8852659;8852660;8982507;9211925;9261180;9284755;9359036;9556633;9760196 1910 AAB24922;P24530 AB209198;ABBA01021669;AF114165;AJ458188;AJ458189;AJ458190;AJ458191;AK290699;AL139002;AMYH02028322;AY275463;AY547312;BC014472;BG436360;BM557607;CH471093;D13168;D90402;H28710;KF455797;L06623;M74921;NG_011630;NM_000115;NM_001122659;NM_001201397;NM_003991;S44866;S57283;X99250;XM_005266275 AAA52342;AAA58465;AAB19411;AAB24922;AAB25531;AAD24541;AAH14472;AAP32295;AAS38516;BAA02445;BAA14398;BAD92435;BAF83388;CAA67623;CAD30645;CAD30646;CAD30647;CAD30648;EAW80573;EAW80574;EAW80575;EAW80576;EAW80577;EAW80578;NP_000106;NP_001116131;NP_001188326;NP_003982;P24530;XP_005266332 Hs.743195;Hs.82002 1657501;1662421;1713321;1795730;1852927;1853915 D13S1461;EDNRB_607;G15922;RH120654;RH68201;RH68202 ABCDS;ET-B;ET-BR;ETB;ETBR;ETRB;HSCR;HSCR2;WS4A OTTHUMP00000018534;OTTHUMP00000178736;endothelin B receptor;endothelin receptor non-selective type APPROVED protein-coding ENSG00000136160 HGNC:3180 08834 131244;277580;600155;600501 REVIEWED 7253727 EDNRB-AS1 EDNRB antisense RNA 1 ASSOCIATED WITH ABCD syndrome (inferred); Hirschsprung Disease (inferred); Lung Neoplasms (inferred) 13 13 78393072 78482577 + 77818937 77908442 + 8554872 12477932 100505518 ABBA01021669;AL139002;AL354831;AMYH02028322;BC031243;DB451407;HG505750;HY028606;NR_103853 Hs.742215 RP11-318G21.3 ncrna HGNC:49045 VALIDATED 1322314 EDRF1 erythroid differentiation regulatory factor 1 This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 10 10 10 q26.13 121183516 121228144 + 127408084 127452712 + 125719515 125764143 + 737633;6480464;8554872 12477932 12609092;14702039;15489334;18726394;18759052;18763094;19875381;20379614;21139048;21145461;21890473;21900206;21906983;23000965;24250222;24816145;25036637 26098 E9PJ07;H0Y353;H0YCQ0;H0YCS2;Q3B7T1 ABBA01034169;AF040247;AK025270;AK091507;AK314958;AL050102;AL158835;AMYH02023996;BC016903;BC026172;BC028715;BC029650;BC105929;BC107479;BC107896;CH471066;NM_001202438;NM_015608;NR_110857;NR_110858;NR_110859;XM_005269687;XM_005269688;XM_005269689 AAC00001;AAH26172;AAI05930;AAI07480;BAB15100;BAG37462;CAB43273;EAW49231;EAW49232;EAW49233;EAW49234;EAW49235;EAW49236;NP_001189367;NP_056423;Q3B7T1;XP_005269744;XP_005269745;XP_005269746 Hs.468688 1672310;1672821;1735942;2148064;2148066;2161410 A006E36;D10S2169;D9S1070E;G20749;RH46482;SHGC-58128 C10orf137;MGC125705;RP11-383C5.6 OTTHUMP00000020703;OTTHUMP00000020707;OTTHUMP00000232252;OTTHUMP00000232253;erythroid differentiation-related factor 1 APPROVED protein-coding ENSG00000107938 HGNC:24640 10694 REVIEWED 7776854 EDRF1-AS1 EDRF1 antisense RNA 1 10 10 q26.13 127433298 127438097 - 125744456 125749528 - 101927983 AA868453;ABBA01034169;AL158835;AMYH02023996;BX091673;HG503346;HG503347;HG503349;LK938928;LK938929;LK938932;LK938933;NR_120633;XR_246200;XR_247601;XR_252831;XR_424185;XR_428824;XR_432659 Hs.634269 RP11-383C5.7 ncrna ENSG00000236991 HGNC:49501 VALIDATED 1320911 EEA1 early endosome antigen 1 ENCODES a protein that exhibits 1-phosphatidylinositol binding; GTP-dependent protein binding; protein homodimerization activity; INVOLVED IN endocytosis; vesicle fusion; PARTICIPATES IN endocytosis pathway; Mycobacterium tuberculosis infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; early endosome; extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; cadmium sulfate 12 12 12 q22 92837376 92994185 - 93166285 93323107 - 92772245 92929331 - 1580863;6480464;6907045;8554872 10024533;10394369;10458612;10491193;10506127;10720461;10807926;10903204;11226253;11230696;11256955;11493665;11718716;11741531;11870209;12271471;12477932;12493736;12536145;12963735;14600265;14613930;15016378;15052657;15229288;15328530;15342556;15451443;15782196;15792797;15880641;16138080;16314522;16331966;16448788;16542649;17113235;17146146;18029348;18262180;18305041;18632619;19056867;19535332;20086096;20133936;20360068;20534488;20929444;21139048;21468601;21556036;21789505;21890473;21906983;21963094;22816767;22915584;23499280;23686137;23729440;23874603;24086611;24457600;24491918;24644286;24816145;7768953;9697774 8411 F8VUZ7;F8W119;F8WE79;Q15075 ABBA01053390;ABBA01053391;ABBA01053392;AC016136;AC021646;AC026111;AF173389;AK292008;AK307918;AMYH02026931;AMYH02026932;AMYH02026933;AMYH02026934;AMYH02026935;BC017837;BC041930;BF515615;BP228986;BX648463;CH471054;L40157;NM_003566;X78998;XM_006719631 AAA79121;AAH17837;AAI56546;AAI72504;AAQ13630;BAF84697;CAA55632;EAW97471;EAW97472;NP_003557;Q15075;XP_006719694 Hs.567367 1720585;1795732;2115353;2157325;2174657;2176115;2178246;2182030;5092716 A005S12;A008T48;D12S2034;EEA1_1735;G32284;G59248;STS-X78998;WI-17463;WI-20439 MST105;MSTP105;ZFYVE2 OTTHUMP00000242845;early endosome antigen 1, 162kD;early endosome-associated protein;endosome-associated protein p162;zinc finger FYVE domain-containing protein 2 protein-coding ENSG00000102189 HGNC:3185 05460 605070 VALIDATED 1344943 EEC1 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 ASSOCIATED WITH Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 (inferred) 7240710 1424230 1913 HGNC:3186 129900 1347602 EEC2 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2 9443880 1914 HGNC:3187 1320306 EED embryonic ectoderm development This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q14.2-q22.3 83265529 83300439 + 85955586 85989785 + 86244544 86285420 + 1580863;6480464 10581039;11124122;11158321;12351676;12435631;12477932;12788942;12943661;14610174;14759364;15225548;15385962;15536069;15638726;15875659;15882624;16075307;16314526;16357870;16431907;17041588;17210640;17547741;17560333;17804093;17937919;18285464;18302803;18483221;18931660;19026780;19026781;19578722;19767730;20800574;20974918;21123648;21135039;21143197;21190999;21513699;21530438;21540835;21890473;21900206;21906983;22094255;22271413;22308284;22315224;22439931;22659877;22733077;22897849;23317503;23624935;23959866;23982173;24250222;24320048;24457600;9566901;9584197;9584199;9742080;9765275;9806832;9880543 8726 E9PJK2;E9PMU3;H0YEL4;O75530 AA811323;ABBA01017325;ABBA01017326;AF070418;AF078933;AF080227;AF099032;AI378297;AK292120;AK294133;AK301265;AL546955;AMYH02025228;AMYH02025229;AP003084;BC047672;BC068995;CH471076;NG_029595;NM_003797;NM_152991;U90651;XM_005274373;XM_006718730;XM_006718731;XR_247215 AAC23685;AAC68675;AAC95144;AAD08714;AAD08815;AAH47672;AAH68995;ABZ92272;BAF84809;BAG57461;BAG62829;EAW75129;EAW75130;EAW75131;NP_003788;NP_694536;O75530;XP_005274430;XP_006718793;XP_006718794 Hs.503510 1797492 EED_2183 HEED;WAIT1 OTTHUMP00000235483;OTTHUMP00000235484;OTTHUMP00000235485;WD protein associating with integrin cytoplasmic tails 1;polycomb protein EED APPROVED protein-coding ENSG00000074266 HGNC:3188 09343 605984 REVIEWED 68966 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008] 6 6 6 q14.1 74620376 74625658 - 74225473 74230755 - 73515750 73521032 - 6480464;8554872 10094407;10364286;10368288;10851272;10941842;11672422;11689615;11690632;11829477;11854414;11886851;12354112;12426392;12426393;12477932;12519789;12594214;12777385;12840015;12898421;14623968;14702039;14996095;15107835;15109557;15161933;15189156;15231747;15231748;15324660;15383276;15452250;15489334;15592455;15635413;15695360;15716006;15835887;15852347;15862967;15952740;16014383;16159877;16169070;16196087;16226712;16289162;16335966;16354621;16583711;16689924;16712842;16828757;16916647;17124247;17266347;17332776;17342744;17361185;17373842;17595531;17620599;17640892;17707232;17719568;17803295;17825975;17998013;18000879;18079119;18172692;18221514;18263879;18274552;18331827;18406329;18448518;18459963;18502210;18624398;18632687;18688046;18820646;18853312;19013454;19026636;19135240;19156129;19158340;19167051;19193609;19321449;19338310;19349277;19380743;19394292;19454010;19464723;19471022;19471103;19478083;19486527;19487283;19559761;19636410;19738201;19946888;20016921;20030628;20085233;20099848;20211142;20391533;20545466;20618440;20639865;20716364;20832312;20838377;20849852;20972266;21110914;21139048;21145461;21151833;21252943;21319273;21343306;21565611;21689717;21693764;21697493;21704614;2183196;21853274;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22079093;22095224;22108332;22118674;22174317;22178446;22231398;22268729;22355332;22357952;22360420;22399298;22499008;22505724;22531302;22569823;22623428;22628567;22721673;22751105;22779921;22797925;22810585;22863883;22931638;22939629;22952844;22990118;23000965;23077236;23084401;23125841;23184937;23246001;23260144;23277564;23402259;23443559;23463506;23798571;23799104;23939980;23956138;24113185;24209753;24244333;24250222;24332808;24487064;24515614;24583282;24639526;24690621;24816145;25015289;25027693;2556394;2564392;2569467;3169261;3346208;3512269;3570288;3960725;6568109;7542776;7806521;7890750;8125298;8626763;8743958;8812466;9310071;9407120;9465091;9852145 1915 A6PW80;P68104;Q5JR01;Q6IPS9 ABBA01040326;AF174496;AF328730;AF397403;AJ420488;AK024888;AK026650;AK055058;AK058051;AK058082;AK058163;AK098510;AK098518;AK098587;AK098623;AK127384;AK222515;AK222519;AK222523;AK222551;AK222982;AK223030;AK223042;AK223046;AK289374;AK289442;AK290691;AK292639;AK297878;AK300922;AK304214;AK315827;AL603910;AMYH02013912;AY043301;BC008587;BC009733;BC009875;BC010735;BC012509;BC012891;BC014224;BC014377;BC014892;BC018150;BC018641;BC018850;BC019050;BC019669;BC020477;BC021686;BC022412;BC028674;BC029337;BC029343;BC029997;BC035877;BC038339;BC038897;BC057391;BC063511;BC065761;BC066893;BC066894;BC070131;BC070500;BC071619;BC071727;BC071741;BC071841;BC072385;BC082268;BC094687;BC111051;CH471051;DQ185041;DQ867534;EF219140;EF362804;HC250971;HC311160;J04617;M27364;M29548;NM_001402;X03558;X03689;X16869 AAA52343;AAA52344;AAA52367;AAF36537;AAH08587;AAH09733;AAH09875;AAH10735;AAH12509;AAH12891;AAH14224;AAH14377;AAH14892;AAH18150;AAH18641;AAH21686;AAH22412;AAH28674;AAH38339;AAH57391;AAH63511;AAH65761;AAH66893;AAH70131;AAH70500;AAH71619;AAH71727;AAH71741;AAH71841;AAH72385;AAH82268;AAH94687;AAI11052;AAK93966;AAK95378;AAN09722;ABD14421;ABI74620;ABM82376;ABM85555;ABO30531;BAD96235;BAD96239;BAD96243;BAD96271;BAD96702;BAD96750;BAD96762;BAD96766;BAF82063;BAF82131;BAF83380;BAF85328;BAF98718;BAG51457;BAG54498;BAG60202;BAG62554;BAG65087;CAA27245;CAA27325;CAA34756;CBJ05783;CBJ21235;EAW48759;NP_001393;P68104 Hs.535192;Hs.586423;Hs.745122 1652032;1798730;1800998;1801158;1801462;1802210;1805282;1805484;1806884;1812754;1814306;1819590;1827050;1828890;1843406;1924540;1924542;1924544;1924546;1924548;1924550;1924552;1924554;1924556;1924558;1924560;1924562;1924564;1924566;1924568;1924570;1924572;1924574;1924576;1924578;1924580;1924582;1924584;1924586;1924588;1924590;1924592;1924594;1924596;1924598;1924600;2178193;2191777;2207434;2207436;2207438;2207440;2207442;2207444;5016480;5016879;5022322;5022373;5024454;5024623;5113442;5117955 D11S2560;D1S3313;D7S723;ECD00205;ECD01365;ECD01451;ECD01606;ECD01636;ECD01988;ECD03587;ECD03690;ECD04407;ECD07388;ECD08182;ECD10862;ECD14640;ECD15572;ECD22912;GDB:555019;GDB:632624;MARC_7355-7356:996687810:1;REN33095;REN33096;REN33097;REN33098;REN33099;REN33100;REN33101;REN33102;REN33103;REN33104;REN33105;REN33106;REN33107;REN33108;REN33109;REN33110;REN33111;REN33112;REN33113;REN33114;REN33115;REN33116;REN33117;REN33118;REN33119;REN33120;REN33121;REN33122;REN33123;REN33124;REN33125;RH47178;RH65848;SHGC-178;STS-W63684;stSG625946;stSG625947;stSG625948;stSG625949;stSG625950;stSG625951 CCS-3;CCS3;EE1A1;EEF-1;EEF1A;EF-Tu;EF1A;FLJ25721;GRAF-1EF;HNGC:16303;LENG7;MGC102687;MGC131894;MGC16224;PTI1;eEF1A-1 CTCL tumor antigen;EF-1-alpha-1;EF1a-like protein;OTTHUMP00000016736;OTTHUMP00000063804;OTTHUMP00000063805;cervical cancer suppressor 3;elongation factor 1 alpha subunit;elongation factor 1-alpha 1;elongation factor Tu;eukaryotic elongation factor 1 A-1;eukaryotic translation elongation factor 1 alpha 1-like 14;glucocorticoid receptor AF-1 specific elongation factor;leukocyte receptor cluster (LRC) member 7;leukocyte receptor cluster member 7;prostate tumor-inducing protein 1;translation elongation factor 1 alpha 1-like 14 APPROVED protein-coding ENSG00000156508 HGNC:3189 00559 130590 REVIEWED 1352976 EEF1A1P1 eukaryotic translation elongation factor 1 alpha 1 pseudogene 1 21 21 21 q21.1 9945013 9946047 + 24762580 24763614 + 23390259 23391293 + 10830953 54054 ABBA01057189;AMYH02037624;AP000459;NG_000926 EEF1A1P APPROVED pseudo HGNC:3191 INFERRED 1342768 EEF1A1P10 eukaryotic translation elongation factor 1 alpha 1 pseudogene 10 7 7 7 139018336 139019722 - 144344282 144345668 - 144647189 144648575 - 8812466 100421829;1926 ABBA01033545;AC004833;AMYH02016976;NG_026523;NG_032112 EEF1AL8 APPROVED pseudo HGNC:3205 INFERRED 1345248 EEF1A1P11 eukaryotic translation elongation factor 1 alpha 1 pseudogene 11 1 1 1 p21.3 95166810 95168503 + 96912486 96914179 + 96446930 96448623 + 8812466 440595 ABBA01045485;AC092393;AMYH02001527;NG_008817 1692510 AL033907 EEF1AL9 APPROVED pseudo HGNC:3206 INFERRED 1344455 EEF1A1P12 eukaryotic translation elongation factor 1 alpha 1 pseudogene 12 2 2 2 q12.2 101522881 101524519 - 107313494 107315132 - 106697038 106698676 - 8812466 644604 ABBA01043978;AC096663;AMYH02004496;NG_016738 EEF1AL10 APPROVED pseudo HGNC:3195 INFERRED 1605294 EEF1A1P13 eukaryotic translation elongation factor 1 alpha 1 pseudogene 13 5 5 5 p15.1 14675735 14677319 - 14651752 14653336 - 14651643 14653227 - 10343093;8812466 133283 ABBA01020638;AC010491;AC010627;AMYH02010901;NG_002349 EEF1AL11 APPROVED pseudo HGNC:3196 INFERRED 1345794 EEF1A1P14 eukaryotic translation elongation factor 1 alpha 1 pseudogene 14 1 1 1 q31.3 167270035 167271673 + 194158034 194159672 + 194188904 194190542 + 23251661;8812466 647167 ABBA01027628;AL356272;AL591171;AMYH02002395;NG_008758 EEF1AL12 APPROVED pseudo HGNC:3197 INFERRED 1343801 EEF1A1P15 eukaryotic translation elongation factor 1 alpha 1 pseudogene 15 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine X X X q21.33 98164395 98165824 + 97644508 97645937 + 98389510 98390939 + 6480464 8812466 643563 ABBA01064384;AL357312;AMYH02040033;NG_016768 EEF1AL13 APPROVED pseudo HGNC:3198 INFERRED 2923686 EEF1A1P16 eukaryotic translation elongation factor 1 alpha 1 pseudogene 16 12 12 12 p12.3 22287386 22288798 + 17143604 17145016 + 16990670 16992082 + 387845 ABBA01067914;AC023512;AMYH02026110;NG_022950 1681660;2146207 SHGC-5625;STS-U37558 pseudo HGNC:37889 INFERRED 2947544 EEF1A1P17 eukaryotic translation elongation factor 1 alpha 1 pseudogene 17 12 12 12 q12 42842779 42856955 + 44040729 44054904 + 43646926 43661101 + 401717 ABBA01031419;AC090525;AMYH02026379;NG_022965 pseudo HGNC:37890 INFERRED 6483998 EEF1A1P18 eukaryotic translation elongation factor 1 alpha 1 pseudogene 18 11 11 q 64792857 64794397 - 65025385 65026925 - 100887747 ABBA01024138;AMYH02024949;AP000436;NG_032766 pseudo HGNC:37891 INFERRED 2837467 EEF1A1P19 eukaryotic translation elongation factor 1 alpha 1 pseudogene 19 5 5 5 43386304 43387686 - 43495178 43496556 - 43495076 43496454 - 100421796 ABBA01024257;AC114956;AMYH02011247;NG_021847 pseudo HGNC:37892 INFERRED 1344814 EEF1A1P2 eukaryotic translation elongation factor 1 alpha 1 pseudogene 2 14 14 14 q31.1 62169439 62171296 + 82127777 82129634 + 81661433 81663290 + 319112 ABBA01030607;AL160192;AMYH02029633;NG_002494 pseudo HGNC:20008 INFERRED 2837388 EEF1A1P20 eukaryotic translation elongation factor 1 alpha 1 pseudogene 20 5 5 5 95215710 95217094 + 99332251 99333635 + 99996547 99997931 + 100421797 ABBA01069179;AC113407;AMYH02011855;NG_021893 pseudo HGNC:37893 INFERRED 2816292 EEF1A1P21 eukaryotic translation elongation factor 1 alpha 1 pseudogene 21 4 4 4 30201162 30202500 + 29750381 29751719 + 29748759 29750097 + 100421807 ABBA01032764;AC109351;AMYH02008964;NG_022054 pseudo HGNC:37894 INFERRED 3231962 EEF1A1P22 eukaryotic translation elongation factor 1 alpha 1 pseudogene 22 15 15 15 q21.3 30124449 30125828 - 53229336 53230715 - 52937139 52938518 - 23251661 645693 ABBA01039051;AC025041;AMYH02030456;NG_022970 pseudo HGNC:37895 INFERRED 2816291 EEF1A1P23 eukaryotic translation elongation factor 1 alpha 1 pseudogene 23 3 3 3 191711654 191712252 - 193296604 193297202 - 193578815 193579413 - 100421815 ABBA01058288;AC048351;AMYH02008439;NG_022235 pseudo HGNC:37896 INFERRED 3207652 EEF1A1P24 eukaryotic translation elongation factor 1 alpha 1 pseudogene 24 3 3 3 p22.1 39341619 39342993 + 39400036 39401410 + 39358545 39359919 + 22108332;22118674 645715 ABBA01024806;AC104850;AMYH02006588;NG_022246 pseudo HGNC:37897 INFERRED 2974930 EEF1A1P25 eukaryotic translation elongation factor 1 alpha 1 pseudogene 25 3 3 3 q22.3 136970346 136971609 + 138543905 138545168 + 138825063 138826326 + 646612 ABBA01059081;AC067728;AMYH02007776;NG_022276 pseudo HGNC:37898 INFERRED 3436169 EEF1A1P26 eukaryotic translation elongation factor 1 alpha 1 pseudogene 26 7 7 7 p21.2 14209549 14210868 + 14230431 14231750 + 14190806 14192125 + 100128637 ABBA01056599;AC005039;AMYH02015266;CH236948;NG_022551;NG_029494 1713559;2169577 GDB:1318446;RH120266 pseudo HGNC:37899 INFERRED 3077627 EEF1A1P27 eukaryotic translation elongation factor 1 alpha 1 pseudogene 27 7 7 7 p21.1 20605938 20607069 + 20621702 20622833 + 20582079 20583210 + 100130234 ABBA01056675;AC003091;AC007095;AMYH02015333;CH236948;NG_022552 pseudo HGNC:37900 INFERRED 3207701 EEF1A1P28 eukaryotic translation elongation factor 1 alpha 1 pseudogene 28 7 7 7 q21.13 82973083 82974753 + 88268266 88269936 + 88638952 88640622 + 442709 ABBA01045858;AC006988;AMYH02016227;CH236949;NG_009429 pseudo HGNC:37902 INFERRED 3077628 EEF1A1P29 eukaryotic translation elongation factor 1 alpha 1 pseudogene 29 X X X q21.2 85654480 85655922 - 85414930 85416372 - 86159926 86161368 - 100130211 ABBA01051752;ABBA01051753;AL109752;AMYH02039899;NG_009085;NG_012817 pseudo HGNC:37904 INFERRED 1344884 EEF1A1P3 eukaryotic translation elongation factor 1 alpha 1 pseudogene 3 13 13 13 q21 9863761 9865130 + 28788659 28790028 + 28214522 28215891 + 7833926;8812466 100421865 ABBA01035728;AL356915;AMYH02027766;NG_024908 EEF1AL;EEF1AL1 APPROVED pseudo HGNC:3194 INFERRED 2802588 EEF1A1P30 eukaryotic translation elongation factor 1 alpha 1 pseudogene 30 X X X q24 119809884 119819463 - 119344304 119353882 - 120210456 120220034 - 402420 ABBA01049620;AC002086;AC240549;AMYH02040358;NG_023023 pseudo HGNC:37906 INFERRED 3399027 EEF1A1P31 eukaryotic translation elongation factor 1 alpha 1 pseudogene 31 X X X q28 154295836 154306225 - 154137099 154147487 - 154908824 154919212 - 553820 ABBA01029093;AMYH02040863;BX842559;NG_011403;NG_026783 1810614;1834782;2039976;2039978;2039980;2039982;2039984;2039986;2039988;2039990;2039992;2039994;2039996;2039998;2040000;2040002;2040004;2040006;2040008;2040010;2040012;2040014;2040016;2040018;2040020;2040022;2040178;2040180;2103004;2103006 ECD06300;ECD18539;REN91016;REN91017;REN91018;REN91019;REN91020;REN91021;REN91022;REN91023;REN91024;REN91025;REN91026;REN91027;REN91028;REN91029;REN91030;REN91031;REN91032;REN91033;REN91034;REN91035;REN91036;REN91037;REN91038;REN91039;REN91120;REN91121;stSG604344;stSG604345 pseudo HGNC:37908 INFERRED 3077670 EEF1A1P32 eukaryotic translation elongation factor 1 alpha 1 pseudogene 32 1 1 1 q31.3 170780411 170782502 + 197657687 197659778 + 197688557 197690648 + 730232 ABBA01027590;AL365258;AMYH02002437;NG_022987 1764369 SHGC-147965 pseudo HGNC:37909 INFERRED 3184771 EEF1A1P33 eukaryotic translation elongation factor 1 alpha 1 pseudogene 33 12 12 12 q23.1 96960875 96962479 - 97294872 97296476 - 96901094 96902698 - 390352 ABBA01053308;AC007564;AMYH02027016;NG_021698 pseudo HGNC:37911 INFERRED 3398758 EEF1A1P34 eukaryotic translation elongation factor 1 alpha 1 pseudogene 34 20 20 20 p11.23 18837353 18838616 - 18763071 18764334 - 18782427 18783690 - 100132358 ABBA01054055;AL035563;AMYH02036785;NG_021977 1688602;2115280 RH68013;RH93547 pseudo HGNC:37912 INFERRED 3418726 EEF1A1P35 eukaryotic translation elongation factor 1 alpha 1 pseudogene 35 4 4 4 q28.3 133302177 133303560 + 135966619 135968002 + 135045464 135046847 + 389223 ABBA01044887;AC104619;AMYH02010147;NG_022081 pseudo HGNC:37913 INFERRED 2816171 EEF1A1P36 eukaryotic translation elongation factor 1 alpha 1 pseudogene 36 6 6 6 133340003 133341350 + 132593121 132594468 + 132271982 132273329 + 100421820 ABBA01025881;AL023578;AMYH02014499;NG_022371 1806982;1809918;1810652;1814584;1919934;1919936;1919938;1919940;1919942;1919944;1919946;1919948;1919950;1919952;1919954;1919956;1919958;1919960;1919962;1919964;2191777 ECD04456;ECD05951;ECD06320;ECD08322;MARC_7355-7356:996687810:1;REN30785;REN30786;REN30787;REN30788;REN30789;REN30790;REN30791;REN30792;REN30793;REN30794;REN30795;REN30796;REN30797;REN30798;REN30799;REN30800 pseudo HGNC:37914 INFERRED 2816309 EEF1A1P37 eukaryotic translation elongation factor 1 alpha 1 pseudogene 37 8 8 8 108424995 108425551 + 112237865 112238421 + 111225636 111226192 + 100421825 ABBA01037731;AMYH02018614;AP002980;NG_022431 pseudo HGNC:37915 INFERRED 3235149 EEF1A1P38 eukaryotic translation elongation factor 1 alpha 1 pseudogene 38 16 16 16 p12.1 25920850 25922546 - 27144804 27146500 - 27133483 27135179 - 124199 ABBA01017148;AC092725;AMYH02031762;NG_022963 pseudo HGNC:37916 INFERRED 6480160 EEF1A1P39 eukaryotic translation elongation factor 1 alpha 1 pseudogene 39 10 10 p11.23 30590752 30591001 - 30301823 30302072 - 100862850 ABBA01034350;AL353796;AMYH02022559;NG_032140 FLJ10486 pseudo HGNC:37917 INFERRED 1354117 EEF1A1P4 eukaryotic translation elongation factor 1 alpha 1 pseudogene 4 12 12 12 p12.3 24762425 24763822 - 19609185 19610582 - 19456251 19457648 - 8812466 100421854;1920 ABBA01067943;AC091805;AMYH02026137;NG_023989 EEF1AL2 APPROVED pseudo HGNC:3199 INFERRED 6480931 EEF1A1P40 eukaryotic translation elongation factor 1 alpha 1 pseudogene 40 X X 106275478 106276050 + 107032248 107032820 + 100874490 ABBA01035850;AL158821;AL390039;AMYH02040210;NG_032199 pseudo HGNC:37918 INFERRED 6480928 EEF1A1P41 eukaryotic translation elongation factor 1 alpha 1 pseudogene 41 Y Y 2863108 2863314 - 2995067 2995273 - 100874491 ABBA01069773;AC006157;NG_032218 pseudo HGNC:38799 INFERRED 7247502 EEF1A1P42 eukaryotic translation elongation factor 1 alpha 1 pseudogene 42 6 6 6 p12.3 50882101 50884313 - 49325865 49328077 - 49358191 49360404 - 442215 ABBA01050592;AL035687;AMYH02013709;FO393413;NG_022298 pseudo HGNC:48927 INFERRED 1353677 EEF1A1P43 eukaryotic translation elongation factor 1 alpha 1 pseudogene 43 17 17 p11.2 17458121 17489461 + 17554807 17586147 + 11840190;11882782;9847074 1918 ABBA01009756;AC020558;AMYH02033090;KF456253;NG_032985 EEF1A3 APPROVED pseudo HGNC:3193 INFERRED 1349840 EEF1A1P5 eukaryotic translation elongation factor 1 alpha 1 pseudogene 5 ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); translation elongation factor activity (inferred); INVOLVED IN GTP catabolic process (inferred); translational elongation (inferred); FOUND IN extracellular space; extracellular vesicular exosome; nucleus 9 9 9 q34.13 106436550 106438290 + 135894822 135896562 + 133019435 133021175 + 19287380;19380743;21906983;21987572;22108332;22118674;22623428;22810585;23398456;24244333;24816145;8812466 158078 Q5VTE0 ABBA01032475;AL593851;AMYH02021820;NG_002350 Q5VTE0 1298165;1666300 D9S1112;D9S915 EEF1AL3 APPROVED pseudo HGNC:3200 INFERRED 1347390 EEF1A1P6 eukaryotic translation elongation factor 1 alpha 1 pseudogene 6 7 7 7 p15.3 22535286 22537032 - 22549924 22551669 - 22510305 22512050 - 8812466 221838 ABBA01056690;AC002480;AMYH02015349;CH236948;NG_002353 EEF1AL4 APPROVED pseudo HGNC:3201 INFERRED 1352171 EEF1A1P7 eukaryotic translation elongation factor 1 alpha 1 pseudogene 7 19 19 19 q13.12 32586537 32588420 + 35873074 35874957 + 35382172 35384055 + 8812466 390924 ABBA01018743;AC002511;AMYH02035983;NG_008815 EEF1AL5 APPROVED pseudo HGNC:3202 INFERRED 1349405 EEF1A1P8 eukaryotic translation elongation factor 1 alpha 1 pseudogene 8 3 3 3 q27.1 182186972 182188359 - 183744157 183745544 - 184026369 184027756 - 8812466 389179 ABBA01058465;AC068644;AMYH02008300;NG_006547 EEF1AL6 APPROVED pseudo HGNC:3203 INFERRED 1351166 EEF1A1P9 eukaryotic translation elongation factor 1 alpha 1 pseudogene 9 4 4 4 q24 103705052 103706696 + 106405783 106407533 + 105484626 105486376 + 22108332;22118674;8812466 441032 ABBA01063735;AC004066;AMYH02009848;NG_029161 EEF1AL7 APPROVED pseudo HGNC:3204 INFERRED 1344342 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014] 20 20 20 q13.3 58799722 58810854 - 62119365 62130668 - 63488012 63499315 - 1580863;2303420;6480464 12053177 10950927;11780052;12048193;12477932;14588074;14702039;15489334;15592455;15635413;15717329;15893736;15952740;16009940;16156888;16159877;16226712;16369491;17088255;17130842;17267499;17353931;17437010;17550899;17620599;17825975;17908984;18274552;18322813;18474610;18781797;18978249;19138673;19636410;19723040;19966453;20462248;20473970;20505761;20639865;20819441;20864512;20972266;21080425;21110914;21139048;21145461;21851817;21853274;21890473;21900206;21906983;21963094;21987572;22053931;22095224;22178446;22337587;22354994;22505724;22810585;22863883;22939629;23000965;23443559;23444377;23463506;23535732;23602568;23608534;23739844;24244333;24285179;24332808;24399297;24510995;24515614;24591637;24639526;24816145;24853801;25027693;3902853;3968178;7945283;812466;8354261;8626763;8812466 1917 Q05639;Q59GP5 AB209064;AB451389;ABBA01021397;ABBA01021398;ABBA01021399;ABBA01021400;ABBA01021401;AF163763;AK123690;AK307536;AL121829;AMYH02037460;AMYH02037461;BC000432;BC018855;BC110409;BM476361;BQ944047;CH471077;L10340;NG_034083;NM_001958;X70940 AAA91835;AAF80488;AAH00432;AAI10410;ABM85496;BAD92301;BAG70203;CAA50280;EAW75259;EAW75260;NP_001949;Q05639 Hs.433839 1712545;1728985 L26479;UniSTS:142970 EEF1AL;EF-1-alpha-2;EF1A;FLJ41696;HS1;STN;STNL OTTHUMP00000031776;eEF1A-2;elongation factor 1-alpha 2;elongation factor-1 alpha;eukaryotic elongation factor 1 A-2;statin S1;statin-S1;statin-like APPROVED protein-coding ENSG00000101210 HGNC:3192 04265 602959 REVIEWED 1322866 EEF1B2 eukaryotic translation elongation factor 1 beta 2 This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008] 2 2 2 q33.3 200781747 200785083 + 207024318 207027653 + 206159594 206162929 + 1580863;6480464 10094407;10368288;11597139;11829477;12477932;1286667;1286669;14519448;14623968;14729942;15047060;15189156;15302935;15341733;15345747;15489334;15815621;16159877;16169070;16189514;16196087;16226712;16341674;17081983;1710449;17353931;17550899;1886777;19135240;19487283;19738201;20000738;21139048;21145461;21832049;21890473;21906983;22053931;22113938;22234250;22268729;22623428;22863883;22939629;23000965;23184937;23402259;23463506;23798571;24457600;25027693;2556394;3169261;7821789;8250921;8547318;8573604;8743958;9407120 1933 C9JZW3;F2Z2G2;F8WF65;F8WFC9;P24534 ABBA01062650;AC007383;AK291910;AK310096;AMYH02005626;BC000211;BC004931;BC029316;BC067787;BF669470;BM747256;BT007079;BU565415;BU627453;CH471063;CR456825;D28350;NG_009248;NM_001037663;NM_001959;NM_021121;S81522;X60489;X60656 AAH00211;AAH04931;AAH67787;AAP35742;AAY15062;ADZ15825;BAA05716;BAF84599;CAA43019;CAA43063;CAG33106;EAW70381;EAW70382;NP_001032752;NP_001950;NP_066944;P24534 Hs.421608 5020894;5113065 G19935;RH66863 EEF1B;EEF1B1;EF1B EF-1-beta;OTTHUMP00000163805;OTTHUMP00000206335;OTTHUMP00000206336;elongation factor 1-beta;eukaryotic translation elongation factor 1 beta 1 APPROVED protein-coding ENSG00000114942 HGNC:3208 02804 600655 REVIEWED 1605437 EEF1B2P1 eukaryotic translation elongation factor 1 beta 2 pseudogene 1 15 15 15 q21.2 29692282 29693161 + 52797226 52798105 + 52505029 52505908 + 11597139;1710449 1932 ABBA01039062;AC025917;AMYH02030452;NG_003045 EEF1B1;EF1B APPROVED pseudo HGNC:3207 INFERRED 1349270 EEF1B2P2 eukaryotic translation elongation factor 1 beta 2 pseudogene 2 5 5 5 q13.1 64453358 64454218 - 67455003 67455790 - 68159175 68159962 - 12920118;8250921 1934 ABBA01048297;AC104120;AMYH02011455;L26404;NG_003038 2112214 D5S2782 BETA-3;EEF-1;EEF-1BETA5A;EEF1B;EEF1B3 APPROVED pseudo HGNC:3209 INFERRED 1345659 EEF1B2P3 eukaryotic translation elongation factor 1 beta 2 pseudogene 3 X X X p22.11 28927675 28930100 - 24806464 24807227 - 24788347 24789110 - 11181995;8250921 644820 ABBA01072360;AC079375;AMYH02039054;CH471074;NG_008008;NG_016798 EAW99030 EEF1B4 APPROVED pseudo HGNC:3210 INFERRED 5132830 EEF1B2P4 eukaryotic translation elongation factor 1 beta 2 pseudogene 4 12 12 12 q23.3 106960599 106961759 - 107295016 107296176 - 106901238 106902398 - 100130631 ABBA01053160;AC007695;AMYH02027137;NG_021699 pseudo HGNC:32475 VALIDATED 5132829 EEF1B2P5 eukaryotic translation elongation factor 1 beta 2 pseudogene 5 INTERACTS WITH all-trans-retinoic acid 6 6 6 q12 62350616 62352393 + 64189983 64191831 + 63480078 63481926 + 6480464 19615732 442227 ABBA01023961;AL390854;AMYH02013813;NG_029026 pseudo HGNC:32476 INFERRED 1323465 EEF1D eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010] 8 8 8 q24.3 140972129 140990084 - 144661867 144679845 - 143579697 143597675 - 1580863;6480464;8554872 10094407;10368288;10567582;11829477;12210501;12477932;12551973;12761501;12773547;12975309;14623968;14702039;15062873;15146197;15189156;15199388;15489334;15604093;15867431;16097034;16159877;16169070;16189514;16341674;16344560;16807684;16968546;17081983;17353931;17500595;17997862;18781797;19135240;19338310;19380743;19454010;19738201;20195357;20514991;2061327;21044950;21139048;21145461;21319273;21633900;21853274;21890473;21906983;21936567;21963094;21987572;21988832;22053931;2207149;22113938;22145905;22268729;22623428;22721673;22863883;22939629;23000965;23125841;23184937;23402259;23463506;23798571;24163370;24250222;24457600;24583282;24654937;24816145;25027693;2556394;3169261;8051108;8125298;8294461;8334168;8743958;8889548;9353277;9407120;9514931;9568107;9610721;9677419 1936 B2RAR6;D3DWK1;E9PI39;E9PI93;E9PIP5;E9PIZ1;E9PJ84;E9PJD0;E9PJV8;E9PK01;E9PK06;E9PK72;E9PKH7;E9PKK3;E9PL12;E9PL21;E9PL71;E9PLA1;E9PLL8;E9PLS6;E9PLT8;E9PM66;E9PMW7;E9PN56;E9PN71;E9PN91;E9PNC8;E9PNW6;E9PPR1;E9PPY1;E9PQ49;E9PQC9;E9PQR8;E9PQZ1;E9PRL0;E9PRY8;H0YCK7;H0YE58;H0YE72;P29692 ABBA01005247;AC067930;AF370363;AI366989;AK024550;AK093756;AK225040;AK225243;AK225270;AK293339;AK314311;AL833379;AMYH02018944;AY358690;BC000678;BC007847;BC009907;BC012819;BC046445;BC062535;BC071840;BC094806;BG748894;BI667117;BQ064320;BQ083927;BQ686171;BT007242;CF128478;CH471162;CN424074;CN424083;CN424105;CX787126;DA948687;DA977213;NM_001130053;NM_001130055;NM_001130056;NM_001130057;NM_001195203;NM_001289950;NM_001960;NM_032378;XM_005250820;XM_005250821;XM_005250823;XM_005250824;XM_005250825;XM_005250826;XM_006716519;XM_006716520;XM_006716521;XM_006716522;XM_006716523;XM_006716524;XM_006716525;XM_006725064;XM_006725065;XM_006725066;XM_006725067;XM_006725068;XM_006725069;XM_006725070;XM_006725071;XM_006725072;XM_006725073;XM_006725074;XM_006725075;XM_006725076;Z21507 AAH00678;AAH07847;AAH09907;AAH12819;AAH62535;AAH94806;AAP35906;AAQ15199;AAQ89053;ADZ15341;BAB14925;BAG36963;BAG56855;CAA79716;EAW82227;EAW82228;EAW82229;EAW82230;EAW82231;EAW82232;EAW82233;EAW82234;EAW82235;NP_001123525;NP_001123527;NP_001123528;NP_001123529;NP_001182132;NP_001276879;NP_001951;NP_115754;P29692;XP_005250877;XP_005250878;XP_005250880;XP_005250881;XP_005250882;XP_005250883;XP_006716582;XP_006716583;XP_006716584;XP_006716585;XP_006716586;XP_006716587;XP_006716588;XP_006725127;XP_006725128;XP_006725129;XP_006725130;XP_006725131;XP_006725132;XP_006725133;XP_006725134;XP_006725135;XP_006725136;XP_006725137;XP_006725138;XP_006725139 Hs.333388;Hs.686554;Hs.703306 1680521;1760129;2131962;5024706 D19S994;RH79617;RH80155;SHGC-132015 EF-1D;EF1D;FLJ20897;FP1047 EF-1-delta;OTTHUMP00000228834;OTTHUMP00000228835;OTTHUMP00000228854;OTTHUMP00000228855;OTTHUMP00000228856;OTTHUMP00000228857;OTTHUMP00000231014;OTTHUMP00000231015;OTTHUMP00000231272;OTTHUMP00000231355;OTTHUMP00000231356;OTTHUMP00000231357;OTTHUMP00000231358;OTTHUMP00000231359;OTTHUMP00000231460;antigen NY-CO-4;elongation factor 1-delta;guanine nucleotide exchange protein APPROVED protein-coding ENSG00000104529 HGNC:3211 00560 130592 REVIEWED 1626259 EEF1DP1 eukaryotic translation elongation factor 1 delta pseudogene 1 19 19 19 p13.12 14074939 14075929 + 14181137 14182116 + 14070325 14071304 + 11181995 126037 ABBA01029692;AC022098;AMYH02035599;CH471106;NG_006512 EAW84392 1760129;2131962 D19S994;SHGC-132015 pseudo HGNC:32474 INFERRED 1626262 EEF1DP2 eukaryotic translation elongation factor 1 delta pseudogene 2 9 9 9 q22.31 66041118 66042102 - 95599048 95600023 - 92836766 92837741 - 442429 ABBA01018596;AL136981;AMYH02021227;NG_006527 2181135 RH48561 KIAA0699 pseudo HGNC:33523 INFERRED 1606432 EEF1DP3 eukaryotic translation elongation factor 1 delta pseudogene 3 ENCODES a protein that exhibits translation elongation factor activity (inferred); INVOLVED IN translational elongation (inferred); INTERACTS WITH disodium selenite; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 13 13 13 q13.1 13487913 13600682 + 32420920 32533721 + 31846783 31959584 + 6480464 12477932;16189514;16344560 196549 Q658K8 ABBA01010128;AC002525;AL138708;AL833768;AMYH02027817;AMYH02027818;BC021729;BC125059;BC125060;CH471075;DA657873;KF455756;KF459793;KF459794;KF459795;NR_027062 CAH56242;EAX08486 Hs.507667 1336559;1660002;1691414;1691416;1691418;1691456;1691458;1691460;1691462;1691464;1691466;1691468;1691470;1691472;1691474;1691476;1691478;1691480;1691482;1691484;1691486;1691488;1691490;1691492;1757587;1794334;2161032;7187560 D13S260;G41856;G42104;G42105;G42106;G42125;G42126;G42127;G42128;G42129;G42130;G42131;G42132;G42133;G42134;G42135;G42136;G42137;G42138;G42139;G42140;G42141;G42142;G42143;PMC311033P5;RH47659;SHGC-145049 MGC149669;MGC149670 pseudo HGNC:30486 08314 PROVISIONAL 1626263 EEF1DP4 eukaryotic translation elongation factor 1 delta pseudogene 4 7 7 7 q11.21 58042375 58043887 + 64323329 64324839 + 64862951 64864461 + 9847074 442325 ABBA01027986;AC073349;AMYH02015858;NG_006526 FLJ26697 pseudo HGNC:22598 INFERRED 1626265 EEF1DP5 eukaryotic translation elongation factor 1 delta pseudogene 5 6 6 6 q22.33 129647729 129648423 - 128901393 128902087 - 128580248 128580942 - 442258 ABBA01025920;AL080315;AMYH02014460;NG_006525 pseudo HGNC:33524 INFERRED 1322308 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 This gene encodes a multifunctional protein that localizes to both the cytoplasm and nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex. However, its mouse homolog has been shown to translocate to the nucleus in response to DNA damage, and it plays a positive role in ATM/ATR-mediated p53 activation. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream MUTED (muted homolog) gene. An EEF1E1-related pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2010] 6 6 6 p24.3 9302889 9332123 - 8073593 8102828 - 8073360 8102595 - 1298632;1580863;6480464 9653160 11042152;11329013;11714285;12477932;14574404;15342556;15489334;15680327;16055448;18029348;18343821;19024604;20201926;21139048;21789020;21890473;21906983;21963094;22106287;22190034;22623428;22863883;22867704;22939629;22944692;23306449;23870195;24104880;8052601;8078941;8188258;8449960;9278442 9521 D6RBD7;D6RCQ0;H0YAH9;H0YAL7;O43324 AB011079;ABBA01022053;AF054186;AI374688;AI394376;AL023694;AL355499;AL451187;AMYH02013066;AMYH02013067;AV714140;BC005291;BG183264;BP235196;BT007306;CH471087;CK002875;NM_001135650;NM_004280 AAC39916;AAH05291;AAP35970;ABM84428;ABW03577;BAA24926;EAW55227;EAW55231;NP_001129122;NP_004271;O43324 Hs.602353;Hs.745033 1667384;1753011;2108045;2159992 D6S1855;EEF1E1_7949;RH46795;SHGC-65844 AIMP3;P18 ARS-interacting multifunctional protein 3;OTTHUMP00000016008;OTTHUMP00000221319;OTTHUMP00000221320;OTTHUMP00000221321;OTTHUMP00000221323;aminoacyl tRNA synthetase complex-interacting multifunctional protein 3;elongation factor p18;eukaryotic translation elongation factor 1 epsilon-1;multisynthase complex auxiliary component p18;p18 component of aminoacyl-tRNA synthetase complex APPROVED protein-coding ENSG00000124802 HGNC:3212 10931 609206 REVIEWED 7383336 EEF1E1-BLOC1S5 EEF1E1-BLOC1S5 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) and MUTED (muted homolog) genes on chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 6 6 p 8013800 8102828 - 8013567 8102595 - 6480464;8554872 20967262 100526837 C9J1V9 ABBA01022052;ABBA01022053;AL023694;AL096800;AL355499;AL451187;AMYH02013065;AMYH02013066;AMYH02013067;BI552521;NR_037618 Hs.719272 EEF1E1-MUTED ncrna HGNC:49187 VALIDATED 1349957 EEF1G eukaryotic translation elongation factor 1 gamma This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. [provided by RefSeq, Jul 2008] 11 11 11 q12.3 59656465 59670854 - 62327073 62341460 - 62559601 62573988 - 1580863;6480464 10094407;10368288;10908348;11504921;11829477;12477932;12665801;12690205;12766415;12840015;1372736;14519448;1461723;14702039;15189156;15231748;15324660;15383276;15489334;15635413;1598220;16009940;16169070;16189514;16196087;16548883;17081983;17215244;17220478;17314511;17719568;18157088;18781797;19167051;19338310;19343720;19380743;19394292;19596686;19738201;19946888;20020773;20029029;20462248;20639865;20706999;21081666;21110914;21139048;21145461;21150319;21217813;21319273;21800051;21890473;21900206;21906983;21963094;21987572;22053931;22268729;22505724;22536838;22628567;22721673;22797925;22863883;22939629;22944692;23000965;23077236;23125841;23184937;23398456;23402259;23463506;23798571;23862649;24113185;24250222;24457600;24515614;24583282;24816145;25015289;25027693;3169261;7703850;9407120 1937 P26641;Q53YD7 ABBA01003228;ABBA01003229;AK092787;AK129569;AK129618;AK130026;AK299876;AK300203;AK300686;AK300729;AL556034;AMYH02024893;AP001363;AP002990;AY542307;AY687925;BC000384;BC006509;BC006520;BC007949;BC009865;BC013918;BC015813;BC018853;BC018857;BC019051;BC021974;BC024274;BC028179;BC031012;BC067738;BQ947806;BT006677;CH471076;CR407625;DQ185034;DQ185040;KF274542;M55409;NM_001404;X63526;Z11531 AAC18414;AAH00384;AAH06509;AAH06520;AAH07949;AAH09865;AAH13918;AAH15813;AAH21974;AAH28179;AAH31012;AAH67738;AAP35323;AAT08176;ABD14418;ABD14420;ABM82029;ABM85210;BAG61726;BAG61974;BAG62369;BAG62402;CAA45089;CAA77630;CAG28553;EAW74023;EAW74024;EAW74025;EAW74026;EAW74027;EAW74028;NP_001395;P26641 Hs.144835;Hs.444467 1649510;1683637;1744307;2127407;5014717;5021098;5021720;5024611;5493721 D7S2869;DXS6993E;GDB:451619;RH15603;RH66302;SHGC-2363;SHGC-57995;UniSTS:493314;ksks40 EF1G;GIG35 EF-1-gamma;OTTHUMP00000236167;PRO1608;eEF-1B gamma;elongation factor 1-gamma;pancreatic tumor-related protein;translation elongation factor eEF-1 gamma chain APPROVED protein-coding ENSG00000254772 HGNC:3213 11745 130593 REVIEWED 7174916 EEF1GP1 eukaryotic translation elongation factor 1 gamma pseudogene 1 7 7 7 q31.33 119480868 119482824 + 124673487 124675443 + 125033433 125035389 + 9847074 646837 ABBA01057709;AC073322;AMYH02016692;CH236947;NG_009408 pseudo HGNC:44556 INFERRED 7174766 EEF1GP2 eukaryotic translation elongation factor 1 gamma pseudogene 2 5 5 5 q32 143382536 143383776 + 147301745 147302985 + 147922182 147923422 + 100130260 ABBA01026321;AC011352;AMYH02012428;NG_021900 pseudo HGNC:44557 INFERRED 7174969 EEF1GP3 eukaryotic translation elongation factor 1 gamma pseudogene 3 3 3 3 p22.1 40576424 40577821 - 40637613 40639010 - 40596122 40597519 - 651628 ABBA01024789;AC122683;AMYH02006598;NG_022201 pseudo HGNC:44558 INFERRED 7174763 EEF1GP4 eukaryotic translation elongation factor 1 gamma pseudogene 4 3 3 3 q26.1 159464964 159466365 - 161042625 161044026 - 161324837 161326238 - 100129403 ABBA01058789;AC128652;AMYH02008031;NG_022225 1749895 SHGC-111622 pseudo HGNC:44559 INFERRED 7174909 EEF1GP5 eukaryotic translation elongation factor 1 gamma pseudogene 5 X X X q23 115371774 115373178 + 114937111 114938515 + 115702791 115704195 + 642357 ABBA01053722;AC005000;AMYH02040283;NG_022907 pseudo HGNC:44560 INFERRED 7174908 EEF1GP6 eukaryotic translation elongation factor 1 gamma pseudogene 6 6 6 6 97840723 97841651 + 97198676 97199604 + 96750800 96751728 + 100421733 ABBA01014524;AL033379;AMYH02014161;NG_025966 pseudo HGNC:44561 INFERRED 7174918 EEF1GP7 eukaryotic translation elongation factor 1 gamma pseudogene 7 1 1 1 p32.3 51325485 51326188 + 53038787 53039490 + 52573115 52573818 + 645311 ABBA01074769;AL591167;AMYH02001020;NG_022779 pseudo HGNC:44562 INFERRED 7174982 EEF1GP8 eukaryotic translation elongation factor 1 gamma pseudogene 8 4 4 4 q28.2 128205036 128206279 + 130824156 130825399 + 129903001 129904244 + 391698 ABBA01044837;AC079857;AMYH02010107;NG_022079 1744307 GDB:451619 pseudo HGNC:44563 INFERRED 1343628 EEF2 eukaryotic translation elongation factor 2 This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3912125 3921537 - 3976054 3985477 - 3976056 3985463 - 1580863;6480464;6484113;7240710;8554872;8699517 12171600;12477932;12777385;12891704;14594813;15189156;15231747;15302935;15489334;15534876;15635413;15835887;15952740;1596361;16009940;16097034;16098202;16196087;16263121;16344560;16520893;16648488;16712842;16964243;17043677;17081983;17220478;17540176;17586317;17620599;17623298;17824250;17955473;18809582;19036825;19056867;19135240;19275587;19360331;19417104;19596686;19738201;19946888;20020773;20181627;20301317;20371770;20379614;20431927;20473970;20639865;20706999;20708687;20972266;21110914;21132439;21139048;21145461;21151833;21252943;21319273;21554491;21800051;21853274;21890473;21906983;21907836;21963094;21987572;22020937;22053931;22079093;22118674;22269896;22304920;22308030;22505724;22536838;22623428;22669845;22797925;22863883;22939629;22944692;22952844;23000965;23001565;23077236;23184662;23184937;2318846;23190606;23246001;23349634;23402259;23455922;23602568;23798571;24167567;24457600;24515614;24583282;24639526;24648518;24654937;24816145;25015289;25027693;2610926;2840927;3034518;3693353;6427766;8318952;8386634 1938 B4DPU3;M0R0I6;P13639 ABBA01002861;AC011488;AC016586;AK297398;AK298498;AK299225;AMYH02035268;AMYH02035269;AU118535;AY942181;BC006547;BC024689;BC126259;BC136313;CH471139;M19997;NM_001961;X51466;Z11692 AAA50388;AAH06547;AAH24689;AAI26260;AAI36314;AAX34409;ADR83418;BAG59838;BAG60705;BAG61260;CAA35829;CAA77750;EAW69274;EAW69275;NP_001952;P13639 Hs.515070 1689111;1734630;1734648;1767277;2190499 D19S634E;D19S643E;EST11A2;RH78243;RH80123 EEF-2;EF-2;EF2;SCA26 elongation factor 2;polypeptidyl-tRNA translocase APPROVED protein-coding ENSG00000167658 HGNC:3214 00561 130610;609306 REVIEWED 1351780 EEF2K eukaryotic elongation factor-2 kinase This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. [provided by RefSeq, Jul 2008] 16 16 16 p12.2 20997480 21079953 + 22217592 22300066 + 22206271 22288745 + 728634;1580863;6480464;6484113 9144159 11015200;11171059;11500363;11500364;12051769;12107410;12171600;12477932;14702039;14709557;15024086;15144186;15809305;15867377;16098202;16344560;16921268;16964243;17081983;18337751;19322201;19636416;20300520;20379614;21278783;21890473;21906983;22053931;22115317;22216903;22269896;22329831;22505724;22669845;22749997;22863883;22911754;22932089;23000965;23184662;23455922;23640883;23706743;23812389;24193916;24732796;3693353;8386634 29904 H3BRH4;O00418 ABBA01003842;ABBA01003843;ABBA01003844;ABBA01003845;AC009034;AC241411;AC241556;AK022569;AK308757;AW675420;BC032665;CA397138;CH471249;DA556486;DA735877;NM_013302;U93850 AAB58270;AAH32665;ABM81822;ABM84976;EAW50604;NP_037434;O00418 Hs.498892 1644744;1737299;1755037;1777059;1853392;2108047;2154394;5015619;5022578;5022651 D11S2921;D11S3114;D16S2643;D1S1423;EEF2K_8025;RH15649;RH70484;SHGC-141982;SHGC-6052;WI-11344 HSU93850;MGC45041;eEF-2K OTTHUMP00000119998;calcium/calmodulin-dependent eukaryotic elongation factor 2 kinase;calcium/calmodulin-dependent eukaryotic elongation factor-2 kinase;calmodulin-dependent protein kinase III;eEF-2 kinase;elongation factor-2 kinase;eukaroytic elongation factor 2 kinase;eukaryotic elongation factor 2 kinase APPROVED protein-coding ENSG00000103319 HGNC:24615 07369 606968 REVIEWED 1604801 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA-specific ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); ribonucleoprotein complex binding (inferred); INVOLVED IN GTP catabolic process (inferred); selenocysteine incorporation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrion (inferred); nucleus (inferred); ribonucleoprotein complex (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cisplatin 3 3 3 q21.3 126301728 126556922 + 127872302 128127489 + 128153459 128408646 + 6480464;8554872 10970870;12477932;15229221;16641997;18948268;19767754;20379614;20811636;20877624;20878950;21102462;21139048;22939629 60678 C9J8T0;P57772;Q96HZ6 ABBA01020893;ABBA01020894;AF268872;AL449210;AL449214;AL449217;AMYH02007617;AMYH02007618;BC007933;BG420135;CH471052;NM_021937;XM_005247696;XM_006713723 AAG13375;AAH07933;ABM84184;ABM87586;EAW79322;NP_068756;P57772;XP_005247753;XP_006713786 Hs.477498 1670576;1709014;1765969;1773709;2113746;2124325;2126795;2183101 AB071121;RH45946;SGC38238;SHGC-149361;SHGC-77300;SHGC-79575;STS-H99745;UniSTS:29892 SELB EFSEC;OTTHUMP00000216132;OTTHUMP00000216246;elongation factor for selenoprotein translation;elongation factor sec;selenocysteine-specific elongation factor protein-coding ENSG00000132394 HGNC:24614 07409 607695 VALIDATED 1344802 EEGV1 electro-encephalographic variant pattern 1 1346390 1940 HGNC:3215 130180 1606501 EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN DNA repair (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; amiodarone; atrazine 7 7 7 p14.2 36177448 36325726 + 36192836 36341152 + 36153227 36301543 + 6480464;8554872 11214970;12477932;12690205;14702039;20379614;21507922;21832049;21890473;23251661;23891004 80820 H7C4A5;Q7L9B9 AB051493;ABBA01056899;ABBA01056900;AC007327;AC078841;AF161370;AK027386;AMYH02015523;AMYH02015524;AMYH02015525;BC011692;BC065518;CH236951;CH471073;DN998549;NM_030636 AAF28930;AAH65518;BAB21797;BAB55076;EAL23976;EAW94063;NP_085139;Q7L9B9 Hs.487994;Hs.670591 1341720;1644475;1652349;1667985;1672302;1674303;1783444;1856372;2115470;5119217;7186115 A005Z10;A007H36;D7S1422;D7S2251;D7S2384E;GDB:1317152;GDB:1318154;RH41961;SHGC-172301;SHGC-56042 HSPC107;KIAA1706 OTTHUMP00000206928;endonuclease/exonuclease/phosphatase family domain-containing protein 1 protein-coding ENSG00000122547 HGNC:22223 13884 VALIDATED 1603006 EFCAB1 EF-hand calcium binding domain 1 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH arsenite(3-); valproic acid; cadmium dichloride (ortholog) 8 8 8 q11.21 45614709 45635104 - 49627474 49647870 - 48714915 48735311 - 6480464;8554872 12477932;14702039;15342556;15489334;16344560;17207965;20479155;21658281;8889548 79645 H0YBJ9;H0YC53;H9KVD9;Q9HAE3 ABBA01041654;ABBA01041655;AC022915;AK021829;AK299659;AK307101;AK316037;AMYH02017947;AX878710;BC025676;BC029586;BP375493;CB250588;CH471068;DA174619;DB204697;DB536362;DB552638;DC336596;NM_001142857;NM_024593;NR_024605;XM_005251303;XM_005251304 AAH25676;ADQ32617;BAB13906;BAG61576;BAH14408;CAE90233;EAW86692;EAW86693;EAW86694;EAW86695;EAW86696;EAW86697;EAW86698;NP_001136329;NP_078869;Q9HAE3;XP_005251360;XP_005251361 Hs.23245 1677937;1694806 G43632;RH94007 FLJ11767 EF-hand calcium-binding domain-containing protein 1;OTTHUMP00000226175;OTTHUMP00000226177 protein-coding ENSG00000034239 HGNC:25678 08565 VALIDATED 2301274 EFCAB10 EF-hand calcium binding domain 10 ENCODES a protein that exhibits calcium ion binding (inferred); INTERACTS WITH paracetamol; mono(2-ethylhexyl) phthalate (ortholog); pirinixic acid (ortholog) 7 7 7 q22.3 100010699 100027094 - 105205580 105221976 - 105565133 105581529 - 6480464 12477932;12853948;16344560;24322204 100130771 A6NFE3;C9J654;J3KR48;J3KR52 ABBA01057943;ABBA01057944;AC073073;AMYH02016482;BC105284;CH236947;DA101957;NR_027068 A6NFE3 Hs.719432 1791840 PMC127671P1 ncrna ENSG00000185055 HGNC:34531 PREDICTED 1343471 EFCAB11 EF-hand calcium binding domain 11 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 14 14 14 q32.11 70310740 70468290 - 90261499 90421148 - 89794984 89954777 - 6480464;8554872 12477932;14702039;15342556;16461635;21105107;21890473;21906983;23319000;23400010 90141 H0YJX4;Q9BUY7 ABBA01030511;ABBA01030512;AK094740;AK298930;AK310331;AL137128;AL137230;AL163011;AL832321;AMYH02029715;AMYH02029716;BC001787;BG494945;BP371056;BX161414;BX247991;CF593330;CH471061;DN919194;NM_001284266;NM_001284267;NM_001284268;NM_001284269;NM_145231 AAH01787;BAG52922;BAH12905;CAD38616;CAD61889;CAD62325;EAW81411;EAW81412;NP_001271195;NP_001271196;NP_001271197;NP_001271198;NP_660274;Q9BUY7 Hs.123232 1668413;1715305;1765915;1765951;2128609;2140034;2151604;2159175;2180586;5037552 D14S953;D8S2279;G35448;G35756;G35913;G36100;G36266;RH120483;SHGC-149324;SHGC-149350 C14orf143;DKFZp547I1415;FLJ51529 CG11165-like;EF-hand calcium-binding domain-containing protein 11;EF-hand domain-containing protein C14orf143;OTTHUMP00000192900;OTTHUMP00000244834;OTTHUMP00000244835;OTTHUMP00000244836;OTTHUMP00000244838 APPROVED protein-coding ENSG00000140025 HGNC:20357 16609 VALIDATED 1602666 EFCAB12 EF-hand calcium binding domain 12 ENCODES a protein that exhibits calcium ion binding (inferred); INTERACTS WITH aflatoxin B1; chloroprene (ortholog); potassium dichromate (ortholog) 3 3 3 q21.3 127547004 127574330 - 129120164 129147494 - 129401321 129428651 - 6480464 12477932;14702039;15489334;18976975;20379614 90288 D6RFI2;Q6NXP0 ABBA01059231;AK057281;AK096099;AK127968;AL133011;AL449212;AMYH02007640;BC031104;BC066975;CH471052;NM_207307;XM_005247890;XM_006713820;XM_006713821 AAH66975;ADZ15614;BAG53211;BAG54608;CAH10712;EAW79256;EAW79257;NP_997190;Q6NXP0;XP_005247947;XP_006713883;XP_006713884 Hs.652347 5015959;5037552;5037554 D10S2448;D8S2279;D8S2282 C3orf25 EF-hand calcium-binding domain-containing protein 12;EF-hand domain-containing protein C3orf25;OTTHUMP00000215414 APPROVED protein-coding ENSG00000172771 HGNC:28061 11276 PROVISIONAL 1606737 EFCAB13 EF-hand calcium binding domain 13 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH pentachlorophenol (ortholog); titanium dioxide (ortholog) 17 17 17 q21.32 41851460 41969905 + 45401327 45518678 + 47323961 47441312 + 6480464;8554872 12477932;14702039;15489334;18029348;20686565;24097068 124989 E5RFW6;E5RI18;H0YBI2;K7ELL9;Q8IY85 ABBA01041118;ABBA01041119;ABBA01041120;AC040934;AC068234;AC244084;AK097661;AMYH02033519;AMYH02033520;AMYH02033521;AMYH02033522;AMYH02033523;AMYH02033524;BC036407;BC037876;BC044604;BX471329;BX537519;CH471231;NM_001195192;NM_152347 AAH36407;AAH37876;ACE87809;ACT64490;BAC05135;CAD97771;EAW57671;EAW57672;NP_001182121;NP_689560;Q8IY85 Hs.463303 1644006;1654116;1654305;1748573;2138024 1028;D17S848E;RH45935;SHGC-110237;WI-17308 C17orf57;FLJ36110;FLJ40342;FLJ58126 EF-hand calcium-binding domain-containing protein 13;EF-hand domain-containing protein C17orf57;OTTHUMP00000227428;OTTHUMP00000227430 APPROVED protein-coding ENSG00000178852 HGNC:26864 08278 VALIDATED 1605111 EFCAB14 EF-hand calcium binding domain 14 ENCODES a protein that exhibits calcium ion binding (inferred); INTERACTS WITH disodium selenite; elemental selenium; paracetamol 1 1 1 p33 45428182 45472087 - 47140831 47184792 - 46675159 46719064 - 6480464 12477932;14702039;15489334;17672918;19322201;22095909;23455922;9455484 9813 O75071;S4R3Q1 AA974135;AB007963;ABBA01050836;AK001487;AK295722;AL593856;AMYH02000961;BC002525;BC018842;CH471059;NM_014774 AAH02525;BAA32328;BAG50924;BAH12167;EAX06893;EAX06894;NP_055589;O75071 Hs.707688 1645313;1673773;1781844;1855499;2151001;5024543 D1S3690;SHGC-74782;SHGC-74789;SHGC-81672;WI-11938;WI-18600 KIAA0494;RP11-8J9.3 EF-hand calcium-binding domain-containing protein 14;EF-hand domain-containing protein KIAA0494;OTTHUMP00000009684;hypothetical protein LOC9813 APPROVED protein-coding ENSG00000159658 HGNC:29051 17191 VALIDATED 6766948 EFCAB14-AS1 EFCAB14 antisense RNA 1 1 1 1 p33 45427059 45445116 + 47139708 47157770 + 46674036 46692098 + 22095909 100130197 AA993124;ABBA01050836;AL593856;AMYH02000961;BE504902;BX113937;HG491991;HG491992;NR_038827;NR_038828 Hs.568643 1673773;1699836;1781844;1855499 RH103525;SHGC-81672;WI-11938;WI-18600 KIAA0494-AS1;RP11-8J9.4 APPROVED ncrna ENSG00000228237 HGNC:44108 VALIDATED 1604261 EFCAB2 EF-hand calcium binding domain 2 The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014] 1 1 1 q44 218422357 218577396 + 245133171 245288530 + 244969869 245125228 + 6480464;8554872 12477932;14702039;15489334;16344560;16710414;20379614;23427265;23824909 84288 H0Y588;H0Y6F0;H0YHT5;H7BY53;Q5VUJ9 AB209286;ABBA01047175;ABBA01047176;ABBA01047177;ABBA01047178;ABBA01047179;ABBA01047180;ABBA01047181;AI038779;AI796049;AI911515;AK001393;AK090927;AK302883;AL356512;AL589763;AMYH02003092;AMYH02003093;AMYH02003094;AMYH02003095;AMYH02003096;AMYH02003097;AW195544;AW661993;BC005357;BG546306;BG701985;BI838837;BQ438351;DA156641;DB286332;NG_034030;NM_001143943;NM_001290327;NM_032328;NR_026586;NR_026587;NR_026588;XM_006711830;XM_006711831;XM_006711832;XM_006711833 AAH05357;BAD92523;BAG64061;NP_001137415;NP_001277256;NP_115704;Q5VUJ9;XP_006711893;XP_006711894;XP_006711895;XP_006711896 Hs.134857 1654434;1678123;1706914;1750569;1768716;1780114;1856643;2115180;2138977;2156353;2157122;5015619;5022576;5037552 178;AL009492;D11S3114;D1S1361;D1S266E;D8S2279;RH17889;RH70112;SHGC-111872;SHGC-154426;SHGC-34681;SHGC-76623;SHGC-76625;SHGC-80945 CFAP200;DRC8;FLJ33608;MGC12458 EF-hand calcium-binding domain-containing protein 2;OTTHUMP00000038297;OTTHUMP00000038298;OTTHUMP00000038299;OTTHUMP00000038300;OTTHUMP00000222067;OTTHUMP00000227965;OTTHUMP00000241414;dynein regulatory complex subunit 8 protein-coding ENSG00000203666 HGNC:28166 14423 REVIEWED 1603895 EFCAB3 EF-hand calcium binding domain 3 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,3',5-triiodo-L-thyronine; ethyl methanesulfonate; methyl methanesulfonate 17 17 17 q23.2 54834669 54880912 + 60447579 60493840 + 62370218 62416479 + 6480464;8554872 12477932;14702039;15489334;20379614 146779 E5RHB1;E5RJB7;Q8N7B9 ABBA01035355;AC008026;AI218847;AK098684;AMYH02033762;BC101752;BC101778;CH471109;EG327376;NM_001144933;NM_173503 AAI01753;AAI01779;BAC05376;EAW94354;NP_001138405;NP_775774;Q8N7B9 Hs.152670 1669527;1685844;1695862;2145098 D11S4393;RH92967;SHGC-56689;SHGC-78807 FLJ25818;MGC126801;MGC126827 EF-hand calcium-binding domain-containing protein 3;OTTHUMP00000226899;OTTHUMP00000227002;OTTHUMP00000227004 protein-coding ENSG00000172421 HGNC:26379 08077 VALIDATED 1606096 EFCAB5 EF-hand calcium binding domain 5 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH amiodarone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); potassium dichromate (ortholog) 17 17 17 q11.2 25116847 25297005 + 28256874 28435470 + 29929856 30108452 + 6480464;8554872 10737800;12477932;16344560;21509594;22797925 374786 A4FU69;C9J1E6;H0Y4M1;H0Y843;K7EJC3 ABBA01015005;ABBA01015006;AC104982;AC104984;AC104996;AK128126;AK299608;AK302745;AK303060;AL833911;AMYH02033264;AMYH02033265;AMYH02033266;AMYH02033267;AMYH02033268;BC110608;BC110609;BC119807;BC137519;BQ293162;BX648689;DB064946;DB076773;DB080627;NM_001145053;NM_198529;NR_026738;XM_006721879;XM_006721880;XM_006721881;XR_429890 A4FU69;AAI10609;AAI10610;AAI19808;AAI37520;BAC87284;BAG61537;BAG63959;BAG64177;CAD38767;NP_001138525;NP_940931;XP_006721942;XP_006721943;XP_006721944 Hs.662411 1331576;1713155;1783460;1846885;2126903;2143542 D17S1294;D17S1549;RH120365;RH70210;SHGC-111434;SHGC-2736 DKFZp434G2420;DKFZp686I0638;FLJ46247 EF-hand calcium-binding domain-containing protein 5;OTTHUMP00000163637;OTTHUMP00000163638;OTTHUMP00000198277 protein-coding ENSG00000176927 HGNC:24801 13528 VALIDATED 1601856 EFCAB6 EF-hand calcium binding domain 6 This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 22 22 22 q13.2 27835968 28119513 - 43924624 44208217 - 43528744 43812337 - 6480464;8554872 10591208;11258795;12477932;12529303;12612053;14702039;15342556;15489334;19240061;23382691;8125298 64800 B0QYI5;B4DKR4;Q5THR3 AA778573;AB051459;AB073862;ABBA01014578;ABBA01014579;ABBA01014580;ABBA01014581;ABBA01014582;ABBA01014583;AK027241;AK058069;AK225596;AK225605;AK292411;AK292498;AK296679;AK309013;AK311267;AL023801;AL031843;AL118498;AL355841;AMYH02038477;AMYH02038478;AMYH02038479;AMYH02038480;AW139921;BC039315;BP325901;CD106996;CH471138;NG_030019;NM_022785;NM_198856;XM_005261704;XM_005261705;XM_006724296;XM_006724297;Y10776;Z82201;Z97055 AAH39315;BAB15703;BAB33342;BAB71780;BAF85100;BAF85187;BAG59276;CAA71749;CAB91065;EAW73308;NP_073622;NP_942153;Q5THR3;XP_005261761;XP_005261762;XP_006724359;XP_006724360 Hs.658996 1747529;1775874;2111424;2123913;2179665;2181276;7183778 AL022546;D22S1146;D22S427;D22S565;G09536;G65388;L17717 DJBP;FLJ23588;HSCBCIP1;KIAA1672;dJ185D5.1 CAP-binding protein complex interacting protein 1;CAP-binding protein complex-interacting protein 1;DJ-1-binding protein;EF-hand calcium-binding domain-containing protein 6;OTTHUMP00000197735;OTTHUMP00000214009 APPROVED protein-coding ENSG00000186976 HGNC:24204 13391 REVIEWED 6481153 EFCAB6-AS1 EFCAB6 antisense RNA 1 22 22 43912134 43932485 + 43516254 43536605 + 14702039 100874197 ABBA01014577;ABBA01014578;AK090843;AL118498;AL929420;AMYH02038477;HG512339;NR_046563 Hs.627997 APPROVED ncrna ENSG00000223843 HGNC:39999 PREDICTED 1603602 EFCAB7 EF-hand calcium binding domain 7 ENCODES a protein that exhibits calcium ion binding (inferred); INTERACTS WITH calcitriol; cyclosporin A; doxorubicin 1 1 1 p31.3 62278938 62328273 + 63989013 64051041 + 63523342 63585370 + 6480464 11076863;11347906;12477932;14702039;15489336;16381901;25015289 84455 A8K855 AB058702;ABBA01074568;ABBA01074569;AK092219;AK292220;AK315850;AL109925;AL833720;AMYH02001155;BC015814;BX004807;CH471059;NM_032437;XM_005271274;XM_006710976;XM_006710977;XM_006710978 A8K855;AAH15814;BAB47428;BAF84909;BAF98741;CAH56237;CAL37517;CAL37663;CAL37970;CAL38255;EAX06568;EAX06569;EAX06570;NP_115813;XP_005271331;XP_006711039;XP_006711040;XP_006711041 Hs.652324 5021590 A004Y11 DKFZp666D225;KIAA1799;RP4-534K7.1 EF-hand calcium-binding domain-containing protein 7;OTTHUMP00000010540 protein-coding ENSG00000203965 HGNC:29379 17226 VALIDATED 2301262 EFCAB8 EF-hand calcium binding domain 8 ENCODES a protein that exhibits calcium ion binding (inferred); INTERACTS WITH quercetin; bisphenol A (ortholog) 20 20 20 q11.21 28200602 28303292 + 31451595 31481113 + 32876141 32893307 + 6480464 11780052 388795 A8MWE9;B7ZBN9;H0Y4P4 ABBA01019248;AL035071;AL139826;AL390298;AMYH02036942;CH471077;XM_006710086;XM_006723897;XM_006726794 A8MWE9;EAW76347;XP_006710149;XP_006723960;XP_006726857 1703606;1724257;1724295;2117564 D20S563E;RH120402;RH121271;SHGC-78691 EF-hand calcium-binding domain-containing protein 8;EF-hand domain-containing protein ENSP00000383366 protein-coding HGNC:34532 MODEL 2301263 EFCAB9 EF-hand calcium binding domain 9 ENCODES a protein that exhibits calcium ion binding (inferred) 5 5 5 q35.1 167653587 167662872 + 171621176 171630458 + 172194172 172203454 + 11181995;15372022 285588 A8MZ26 ABBA01044052;AC024561;AI024830;AMYH02012746;CH471062;CN445899;NM_001171183 A8MZ26;EAW61438;NP_001164654 Hs.716824 1686734;1693810;2115577 RH93379;SHGC-58952;WI-22520 EF-hand calcium-binding domain-containing protein 9;EF-hand domain-containing protein;OTTHUMP00000223465 protein-coding ENSG00000214360 HGNC:34530 PROVISIONAL 1602687 EFCC1 EF-hand and coiled-coil domain containing 1 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 3,3',4,4',5-pentachlorobiphenyl; amiodarone 3 3 3 q21.3 127152648 127191825 + 128720131 128759585 + 129001288 129040742 + 6480464;8554872 12477932;14702039;15489334;16641997;21145461;22632162 79825 Q9HA90 ABBA01020918;ABBA01020919;ABBA01020920;ABBA01020921;AC108673;AC112484;AK022115;AK022119;AMYH02007629;BC093800;BC112195;BX649124;CH471052;NM_024768;XM_005247781 AAH93800;AAI12196;BAB13964;EAW79286;NP_079044;Q9HA90;XP_005247838 Hs.134807 1686338;1690788;5019192;5022651 D11S2921;RH104377;RH79951;RH99169 C3orf73;CCDC48;DKFZp686B0148;FLJ12053;FLJ12057;MGC138400 EF-hand and coiled-coil domain-containing protein 1;EF-hand domain-containing protein ENSP00000381169;OTTHUMP00000213822;coiled-coil domain containing 48;coiled-coil domain-containing protein 48 APPROVED protein-coding ENSG00000114654 HGNC:25692 08569 VALIDATED 1318351 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009] 2 2 2 p16 55933455 55991286 - 56093097 56151298 - 55865962 55924163 - 1598888;1580863;6480464;7240710;8554872;8699517 10369267 10601734;10982184;11262647;11384588;11389162;12242346;12427233;12477932;12620389;14578376;14702039;15123717;15218514;15489334;16189514;16344560;16502470;16713569;17170699;17666404;17671114;18188955;18391951;18391952;18985028;19012040;19115204;19208748;19266077;19275936;19396169;19451621;19804359;19850834;19862539;19887559;19893584;19898900;19913326;19948975;20005202;20189936;20378157;20379614;20397748;20546612;20801516;20846217;20881960;20966902;20981449;21078624;21163940;21571867;21744999;21796503;21901248;21955618;21963094;21988832;22031286;22159686;22190034;22275171;22519482;22665268;23036572;23230284;23365660;23470560;23509962;23563607;23782690;23840707;23936443;24013232;24080855;24142183;24236050;7799918;8573024;8812496;8889548 2202 B2R6M6;C9J4H7;C9J4J8;C9J8S9;C9JPZ9;C9JQX7;C9JUM4;Q12805;Q580Q6 AA704122;AB209212;ABBA01075279;AC010895;AC096549;AI472137;AK092854;AK290599;AK293058;AK301402;AK301531;AK312639;AL703474;AMYH02003863;AY004330;BC014410;BC098561;BU542044;BU683304;BX475672;CH471053;CS161052;DA264704;NG_009098;NM_001039348;NM_001039349;U03877;XM_005264205 AAA65590;AAH14410;AAH98561;AAK11491;AAX81993;AAY14669;ABM83440;ABM86654;BAD92449;BAF83288;BAF85747;BAG35523;BAG52615;BAG62937;BAG63032;CAJ30876;EAX00080;EAX00081;EAX00082;NP_001034437;NP_001034438;Q12805;XP_005264262 Hs.732348;Hs.76224 1645209;1667215;1680004;1686877;1752277;1769832;2134672 D2S2626;D2S2864;RH70532;RH93383;RH98599;SHGC-106202;SHGC-12903 DHRD;DRAD;FBLN3;FBNL;FIBL-3;FLJ35535;MGC111353;MLVT;MTLV;S1-5 EGF-containing fibulin-like extracellular matrix protein 1;OTTHUMP00000159697;OTTHUMP00000201000;OTTHUMP00000201001;extracellular protein S1-5;fibrillin-like protein;fibulin 3;fibulin-3 APPROVED protein-coding ENSG00000115380 HGNC:3218 03331 126600;601548 REVIEWED 1349728 EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011] 11 11 11 q13.1 62957818 62964246 - 65633912 65640405 - 65866441 65872934 - 1580863;6480464;8699517;7240710;8554872 10380882;10601734;10982184;11231014;12107411;12477932;12975309;14702039;15342556;15489334;16189514;16303743;16493080;16554811;16685658;16713569;17255108;19199708;19570982;19627254;19953087;20389311;20588308;21078624;21163940;21563328;22070778;22440127;22829427;22919265;22943132;23088713;23313295;23518852;23782690;24722188 30008 E9PI47;E9PKA3;E9PNB8;E9PRQ8;E9PRU1;E9PSC1;H0YCB5;H0YCR9;H0YET5;H0YEU0;O95967;Q9H3D5 AB030655;AB209121;ABBA01024098;AF093119;AF109121;AF124486;AJ132819;AK000980;AK075453;AK095794;AK098186;AK292079;AK315181;AMYH02024966;AP001201;AY358899;BC010456;BC018871;BC109225;BP382163;BQ478413;BQ639195;CB050184;CH471076;CR541934;DB475347;NG_012304;NM_016938;NR_037718 AAC62108;AAF65188;AAG45245;AAH10456;AAQ89258;ABM82973;ABM86167;BAA92880;BAD92358;BAF84768;BAG37622;BAG50843;BAG52143;CAA10791;CAG46732;EAW74455;EAW74456;EAW74457;EAW74458;EAW74459;EAW74460;EAW74461;EAW74462;NP_058634;O95967 Hs.731454 2114485;2114524;2123360;2148752;2159266;5022262 D11S2297E;IB1075;RH36142;STS-H53813;STS-R09524;WI-18484 ARCL1B;FBLN4;FIBL-4;MBP1;UPH1 EGF-containing fibulin-like extracellular matrix protein 2;OTTHUMP00000233967;OTTHUMP00000233968;OTTHUMP00000234402;fibulin 4;fibulin-4;mutant p53 binding protein 1 APPROVED protein-coding ENSG00000172638 HGNC:3219 05221 604633;614437 REVIEWED 1349676 EFHB EF-hand domain family, member B ENCODES a protein that exhibits calcium ion binding (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; hydralazine 3 3 3 p24.3 19861484 19916233 - 19920964 19977820 - 19879472 19934214 - 737633;1580863;6480464 12477932 14702039;15489334;20379614 151651 H7C0U4;H9KV82;Q8N7U6 ABBA01025095;AC104182;AK057929;AK097644;AK122616;AMYH02006363;BC028198;CH471055;NM_144715;XM_005264889;XM_005264891 AAH28198;BAB71614;BAC85491;EAW64299;EAW64300;NP_653316;Q8N7U6;XP_005264946;XP_005264948 Hs.733920 2142551;5020948;5037552 D3S4109;D8S2279;G35510 CFAP21;FLJ25200 EF-hand domain-containing family member B;OTTHUMP00000197685;OTTHUMP00000197686;OTTHUMP00000207861;cilia and flagella associated protein 21;ef hand domain family, member b protein-coding ENSG00000163576 HGNC:26330 08054 VALIDATED 1317534 EFHC1 EF-hand domain (C-terminal) containing 1 This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] 6 6 6 p12.3 53946143 54021738 + 52284994 52360583 + 52420196 52495785 + 6480464;7240710;8554872 12477932;14574404;14582146;14702039;15258581;15489334;16189514;16344560;16378686;16824517;16839746;17054699;17159113;17634063;17972043;18505993;18593566;18823326;19147686;20201926;20379614;22226147;22690745;22727576;22926142;23756480;23756481;8125298;8737649;9305351 114327 B2CKC5;Q5JVL4 ABBA01050555;AK001328;AK094609;AK225543;AK295064;AK297632;AL049611;AL122084;AL136125;AMYH02013733;AY608689;AY608690;BC012921;BC020210;BQ268404;BQ270560;CH471081;CS185610;DA906669;EU520261;NG_016760;NM_001172420;NM_018100;NR_033327 AAH20210;AAT67418;AAT67419;ABM83096;ABM86290;ACB20691;BAA91628;BAG60005;BAH11960;CAJ42791;EAX04370;EAX04371;EAX04372;NP_001165891;NP_060570;Q5JVL4 Hs.403171 1649474;1697470;1709410;2164914;5022578 D1S1423;NIB1406;RH102236;SHGC-81734;STS-AA037246 EJM;EJM1;FLJ10466;FLJ37290;JAE;dJ304B14.2 EF-hand domain-containing protein 1;OTTHUMP00000016605;myoclonin-1 APPROVED protein-coding ENSG00000096093 HGNC:16406 10583 254770;607631;608815 REVIEWED 1348000 EFHC2 EF-hand domain (C-terminal) containing 2 This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011] X X X p11.3 48146906 48342688 - 44005549 44202923 - 44146303 44343677 - 1580863;6480464;8554872 12477932;14702039;15489334;15772651;16112844;17164267;17221867;17948898;18187620;19060904;19429002;24722188 80258 Q5JST6 ABBA01046385;ABBA01046386;ABBA01046387;ABBA01046388;ABBA01046389;ABBA01046390;ABBA01046391;ABBA01046392;ABBA01046393;ABBA01046394;ABBA01046395;ABBA01046396;ABBA01046397;ABBA01046398;ABBA01046399;ABBA01046400;ABBA01046401;ABBA01046402;ABBA01046403;ABBA01046404;ABBA01046405;AC018719;AK026254;AK026496;AK291187;AK292967;AK297714;AL133344;AL359744;AMYH02039233;AMYH02039234;AMYH02039235;AMYH02039236;BC031039;CH471141;CR749363;DC331145;NG_021391;NM_025184;XM_005272671;XM_006724561;XM_006724562 AAH31039;ADZ15519;BAB15413;BAB15492;BAF83876;BAF85656;BAG60070;CAH18216;EAW59372;EAW59373;EAW59374;EAW59375;NP_079460;Q5JST6;XP_005272728;XP_006724624;XP_006724625 Hs.521953 1662352;1694088;1770855;2109783;2145519;2166438;2182374;5017894;7185911 AF020178;AL035132;DXS7952;DXS8197;DXS8210;EFHC2;RH70847;RRM2_8603;U23913 DKFZp686G08235;FLJ22601;FLJ22843;MRX74;dJ1158H2.1 EF-hand domain-containing family member C2;OTTHUMP00000023169;OTTHUMP00000023170;mental retardation, X-linked 74 APPROVED protein-coding HGNC:26233 06540 300817 VALIDATED 1350827 EFHD1 EF-hand domain family, member D1 EFHD1 is an EF-hand domain-containing protein that displays increased expression during neuronal differentiation (Tominaga and Tomooka, 2002 [PubMed 12270117]).[supplied by OMIM, Mar 2008] 2 2 2 q37.1 227235077 227311815 + 233470767 233547491 + 232606057 232682781 + 1580863;6480464 12270117;12477932;14702039;15489334;15498874;17353931;20877624;21139048;21163940;21244694;22001757;22053931;23398456;8889548 80303 C9JTV4;H7C0I0;Q8WYH2;Q9BUP0 AB209715;ABBA01002008;ABBA01002009;ABBA01002010;ABBA01002011;ABBA01002012;ABBA01002013;ABBA01002014;ABBA01002015;AC064852;AC073254;AF176923;AF193044;AF218006;AK023674;AK293581;AK310565;AK315442;AMYH02005988;AMYH02005989;AMYH02005990;AW271276;BC002449;BC004128;BC035476;BC071886;BM677018;CH471063;CR627385;DB461847;DC328084;NM_001243252;NM_025202 AAG17248;AAG22472;AAH02449;AAH04128;AAQ13667;AAX93178;AAX93189;BAB14634;BAD92952;BAG37830;BAG57051;CAH10481;EAW71013;EAW71014;EAW71015;NP_001230181;NP_079478;Q9BUP0 Hs.516769;Hs.744624 1672117;1672119;1847507;2166698 A005V33;G20538;G31075;RH45995 DKFZp781H0842;FLJ13612;MST133;MSTP133;PP3051;SWS2 EF hand domain containing 1;EF hand domain family, member D1;EF-hand domain-containing protein 1;EF-hand domain-containing protein D1;OTTHUMP00000164362;OTTHUMP00000203630;OTTHUMP00000203631;OTTHUMP00000203632;swiprosin-2 APPROVED protein-coding ENSG00000115468 HGNC:29556 13265 611617 VALIDATED 1316863 EFHD2 EF-hand domain family, member D2 ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN membrane (inferred); INTERACTS WITH 5-fluorouracil; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 1 1 1 p36.21 14219263 14239714 + 15736391 15756839 + 15409895 15430343 + 1580863;6480464 11788997;12477932;15274114;15489334;16341674;16964243;17081983;17673920;19165527;19322201;19693767;20471030;20876399;21139048;21244694;21832049;21890473;21963094;21965664;22268729;22863883;23000965;23331044;23398456;23959172;23977092;24816145 79180 H0Y4Y4;Q96C19 ABBA01004712;AI624416;AL031283;AMYH02000359;AMYH02000360;BC003033;BC007233;BC013648;BC014923;BC023611;BC068473;BI753983;BM796344;CH471167;NM_024329;XM_005246000 AAH07233;AAH14923;AAH23611;AAH68473;EAW51720;EAW51721;EAW51722;EAW51723;NP_077305;Q96C19;XP_005246057 Hs.465374 1643658 RH15623 MGC4342;RP3-467K16.3;SWS1 EF hand domain containing 2;EF hand domain family, member D2;EF-hand domain-containing protein D2;OTTHUMP00000002319;OTTHUMP00000002320;swiprosin 1;swiprosin-1 protein-coding ENSG00000142634 HGNC:28670 13266 VALIDATED 1349722 EFMR epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome) ASSOCIATED WITH Epilepsy, Female-Restricted, with Mental Retardation (inferred) 7240710 5116697 1941 HGNC:3220 300088 730990 EFNA1 ephrin-A1 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008] 1 1 1 q21-q22 128171631 128178823 + 155100349 155107386 + 155127873 155134910 + 1304509;1299268;6480464;6484113 12615978;15561600 10207129;10341214;10366629;10502115;10515610;10655584;10730216;11128993;11256076;11278560;11519828;12477932;12496364;12496371;12794130;14692877;14707054;15193868;15340161;15489334;15585656;15649254;15777695;16051609;16169070;16239146;16428472;16710414;17049832;17332925;17980912;18794797;19074825;19101799;19525919;19573808;19642143;19950554;20154726;20571968;21138904;21166698;21349856;21415392;21500549;21900206;22001757;22040911;22228563;22236865;2233719;22824143;23065816;23251661;23258614;23298804;23535732;23661698;23686814;24040255;24330498;7619809;7838529;7973638;8070404;8542290;8660976;8755474;9195962;9267020;9530499;9576626;9693361 1942 P20827 ABBA01016716;ABBA01016717;AK057845;AK289589;AK313117;AL691442;AL833641;AMYH02001940;AW274944;BC032698;BC095432;CH471121;CR457416;GN087437;GN087439;M57730;NM_004428;NM_182685;XM_005244940 AAA58388;AAH32698;AAH95432;ABM81648;ABM84826;BAF82278;BAG35938;CAG33697;CAX86883;CAX86884;EAW53131;EAW53132;EAW53133;EAW53134;EAW53135;NP_004419;NP_872626;P20827;XP_005244997 Hs.516664 1795734;2179794 EFNA1_321;STS-W60696 B61;ECKLG;EFL1;EPLG1;LERK-1;LERK1;TNFAIP4 OTTHUMP00000033242;OTTHUMP00000033271;TNF alpha-induced protein 4;eph-related receptor tyrosine kinase ligand 1;immediate early response protein B61;ligand of eph-related kinase 1;tumor necrosis factor alpha-induced protein 4;tumor necrosis factor, alpha-induced protein 4 APPROVED protein-coding ENSG00000169242 HGNC:3221 01858 191164 REVIEWED 1314277 EFNA2 ephrin-A2 This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1220457 1234238 + 1286153 1301430 + 1286154 1301431 + 1580863;6480464;6484113 10207087;10207129;10366629;10531456;10730216;10958785;11128993;11256076;11860487;11884456;12421992;12659632;15057824;16158060;16540516;17878388;19525919;20805357;21415392;22247258;24050852;24550731;8755474;9267020;9465306;9530499;9576626;9751130;9826538 1943 O43921;Q9HCB5 ABBA01002638;AC004258;AC005330;AJ007292;AMYH02035147;CH471139;NM_001405;U92896 AAC04896;AAC39577;AAG16277;AAI46279;AAI48728;CAA07435;EAW69517;NP_001396;O43921 Hs.741510 ELF-1;EPLG6;HEK7-L;LERK-6;LERK6 HEK7 ligand;HEK7-ligand;eph-related receptor tyrosine kinase ligand 6;ligand of eph-related kinase 6 APPROVED protein-coding HGNC:3222 04132 602756 REVIEWED 1352863 EFNA3 ephrin-A3 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. [provided by RefSeq, Jul 2008] 1 1 1 q21-q22 128122870 128131536 + 155051348 155060014 + 155078872 155087538 + 1580863;6480464;6484113 10207129;10366629;10516308;10730216;11128993;11256076;12477932;12496762;12907451;15489334;15777695;15901737;16169070;16710414;17980912;18417479;19204726;19823572;23535732;23686814;7838529;7973638;8660976;8755474;9195962;9267020;9530499;9576626 1944 B4DXG7;P52797 ABBA01016720;AK296030;AK316248;AL691442;AMYH02001939;BC017722;BC110406;BU633345;CH471121;L37360;NM_004952;U14187 AAA52368;AAC50078;AAH17722;AAI10407;ABM82594;ABM85780;BAG58798;BAH14619;EAW53136;EAW53137;NP_004943;P52797 Hs.516656 1795736;2146371 EFNA3_1673;RH70568 EFL-2;EFL2;EPLG3;Ehk1-L;LERK-3;LERK3 EHK1 ligand;OTTHUMP00000033243;OTTHUMP00000219768;eph-related receptor tyrosine kinase ligand 3;ligand of eph-related kinase 3 APPROVED protein-coding ENSG00000143590 HGNC:3223 03225 601381 REVIEWED 1317216 EFNA4 ephrin-A4 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. Three transcript variants that encode distinct proteins have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q21-q22 128107735 128113551 + 155036213 155042029 + 155063737 155069553 + 6480464 10207129;10366629;10515610;10607706;10730216;11128993;11256076;12030849;12107412;12209731;12477932;15340161;15489334;15777695;16341674;16540516;16710414;18819711;19828693;20071790;20643727;22708584;23535732;23686814;7838529;8660976;8755474;9195962;9267020;9530499;9576626 1945 P52798 ABBA01016720;AI459151;AI625552;AJ006352;AJ006353;AJ320547;AL691442;AMYH02001939;BC042610;BC107483;BE780161;BM740848;BM747625;BQ940212;CD671399;CH471121;CR533569;NG_029561;NM_005227;NM_182689;NM_182690;U14188 AAC50079;AAI07484;CAA06992;CAA06993;CAC48189;CAG38600;EAW53138;EAW53139;EAW53140;NP_005218;NP_872631;NP_872632;P52798 Hs.449913;Hs.639422 1781672;2185149;2191529;2217286 EFNA4_1473;MARC_26096-26097:1032793492:3;RH66543;SHGC-154992 EFL4;EPLG4;FLJ57652;LERK-4;LERK4;MGC125826 OTTHUMP00000033237;OTTHUMP00000033238;OTTHUMP00000219769;eph-related receptor tyrosine kinase ligand 4;ligand of eph-related kinase 4 APPROVED protein-coding ENSG00000243364 HGNC:3224 03224 601380 REVIEWED 1350398 EFNA5 ephrin-A5 Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008] 5 5 5 q21 102652515 102946033 - 106712590 107006596 - 107376889 107670895 - 1580863;6480464;6484113 10207129;10366629;10531456;10601038;10730216;11128993;11256076;11416136;11870224;12477932;15107857;15489334;15777695;15901737;17400922;17474147;17631495;18385452;18563700;18628988;19270726;19668339;19695673;20029409;20379614;20659327;20889312;22072270;22074469;22623531;22860012;23401654;23419831;23959867;7748564;8661153;8755474;9195962;9245480;9267020;9530499;9576626;9751130 1946 D6RDV5;P52803 ABBA01069109;ABBA01069110;AC008796;AC008800;AC008952;AC010227;AC011349;AC024587;AK025909;AK308672;AMYH02011931;AMYH02011932;BC075054;BC075055;CH471086;KC877063;NM_001962;U26403;XM_006714565 AAB60377;AAH75054;AAH75055;EAW49063;EAW49064;EAW49065;NP_001953;P52803;XP_006714628 Hs.288741 1335249;1670752;1671390;1689294;1696618;1735574;1743371;1752481;1755351;1755775;1761543;1771484;1787776;1795738;1855939;2117299;2130594;2131603;2141985;2154556;2164325;2187304;5022739 A004F05;A006T32;D5S1443;D5S1688E;D5S1890;D5S475;EFNA5;EFNA5_1540;GDB:315565;RH12376;RH16297;RH36350;RH78310;SGC34450;SHGC-106401;SHGC-142233;SHGC-142620;SHGC-145540;SHGC-173148;SHGC-82929;STS-D29229;WI-15986;WI-18120 AF1;AL-1;EFL5;EPLG7;GLC1M;LERK-7;LERK7;RAGS OTTHUMP00000158935;OTTHUMP00000222715;eph-related receptor tyrosine kinase ligand 7 APPROVED protein-coding ENSG00000184349 HGNC:3225 03324 601535 REVIEWED 737327 EFNB1 ephrin-B1 The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008] X X X q12 68401732 68414899 + 68048840 68062007 + 68828997 68842164 + 1599802;1580863;1304509;727396;6480464;6484113;7240710;8554872;8699517 12139920;15124102;15561600 10197531;10207129;10669731;10730216;11128993;11256076;11301003;11466320;11557983;12084815;12136247;12209731;12223469;12384430;12475948;12477932;12919674;14576067;14642617;14988728;15166289;15340161;15351694;15489334;15725075;15772651;15959873;16526919;16712791;17204606;17567680;17591954;17906625;17942634;18043713;18314490;18627045;19056867;19672298;20301533;20308325;20565770;20643727;20734337;21064195;21139048;21542058;21906983;21963094;21988832;22279592;22718351;23335590;23475958;23811940;24240587;7774950;7973638;8070404;8660976;8755474;8798744;8878483;8889548;9195962;9267020;9302274;9530499;9576626;9883737;9920925 1947 P98172 ABBA01067395;AL136092;AMYH02039647;BC016649;BC052979;BM972960;BU172498;CB132233;CH471132;L37361;NG_008887;NM_004429;U09303;U09304 AAA52369;AAA53093;AAB41127;AAH16649;AAH52979;ABM82743;ABM85931;EAX05370;EAX05371;NP_004420;P98172 Hs.144700 1701878;1729281;1790213;1795740;1858261;2150662;5017899 AA964352;DXS159;EFNB1;EFNB1_609;EPLG2;G64129;RH17985 CFND;CFNS;EFB1;EFL-3;EFL3;EPLG2;Elk-L;LERK-2;LERK2;MGC8782 ELK ligand;OTTHUMP00000023456;eph-related receptor tyrosine kinase ligand 2;ephrin b1;ligand of eph-related kinase 2 APPROVED protein-coding ENSG00000090776 HGNC:3226 02072 300035;304110 REVIEWED 1319867 EFNB2 ephrin-B2 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008] 13 13 13 q33 87986327 88031570 - 107142079 107187388 - 106489731 106535040 - 1580863;6480464;6484113 10066262;10207129;10473577;10648835;10730216;11128993;11152476;11256076;11780069;11920461;11983165;12051776;12136247;12206665;12477932;12606549;12734395;12761826;14499344;15047175;15057823;15083195;15126321;15193868;15458844;15471957;15489334;15718372;15745950;15764601;15951569;15996027;15998730;16007075;16343615;16357318;16430858;16511561;16867992;17123494;17167981;17196593;17204606;17207965;17336907;17380111;17611172;18231102;18300229;18445690;18488039;18570897;18580054;18713744;18836096;18957513;19035475;19036148;19108727;19272799;19356789;19664212;19728339;19875447;20233847;20483485;20491587;21047731;21575518;21632558;21880727;21906983;21963094;22020958;22024229;22292016;22446484;23201622;23711177;23764850;24038947;7534404;7833926;8559144;8660976;8755474;8878483;9195962;9267020;9530499;9533549;9576626;9630219;9718367;9883737;9920925 1948 P52799;Q2PDH7 ABBA01027048;ABBA01027049;AJ563723;AL138689;AMYH02028664;BC069342;BC074856;BC074857;BC105955;BC105956;BC105957;BG741114;BQ029549;BQ433342;BQ708550;BU622947;CB998384;CH471085;DR004737;KF455823;L38734;NM_004093;U16797;U81262 AAA99707;AAC41752;AAD03786;AAH69342;AAH74856;AAH74857;AAI05956;AAI05957;AAI05958;ADQ32941;CAD91556;EAX09085;NP_004084;P52799 Hs.149239 1649378;1701602;1719159;1738447;1795742;2132602;2132604;2140794;5094993 A004R47;A005Y24;D13S501E;EFNB2;EFNB2_1594;G20597;RH104438;RH123297;RH15749 EPLG5;HTKL;Htk-L;LERK-5;LERK5;MGC126226;MGC126227;MGC126228 HTK ligand;OTTHUMP00000018686;eph-related receptor tyrosine kinase ligand 5;ligand of eph-related kinase 5 APPROVED protein-coding ENSG00000125266 HGNC:3227 02754 600527 REVIEWED 1346330 EFNB3 ephrin-B3 EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7634880 7641053 + 7608520 7614693 + 7705202 7711375 + 1580863;6480464;6484113 10197531;10207129;10730216;11128993;11256076;11920461;12383247;12477932;14702039;15047175;15340161;15489334;16477309;16951161;18057206;18632560;18676680;19170196;19692168;20029409;20925654;21413766;21447033;21988832;8808709;9126477;9267020;9484836;9530499;9576626 1949 Q15768 ABBA01054882;AC087388;AI346983;AK027329;AK314841;AMYH02032911;BC022499;BC042944;BQ892951;CH471108;NM_001406;U57001;U62775;U66406 AAB05170;AAC50707;AAC51203;AAH22499;AAH42944;BAG37359;EAW90133;EAW90134;EAW90135;NP_001397;Q15768 Hs.26988 1682431;1739941;2133122;2217288;5491403 D17S1774;EFNB3_3177;Efnb3;RH67972;RH75909 EFL6;EPLG8;LERK8 EPH-related receptor transmembrane ligand ELK-L3;Ephrin B3;OTTHUMP00000135301;eph-related receptor tyrosine kinase ligand 8 APPROVED protein-coding ENSG00000108947 HGNC:3228 03804 602297 REVIEWED 1604382 EFR3A EFR3 homolog A (S. cerevisiae) This gene encodes a membrane protein. Studies with orthologous gene in mouse show that it is differentially expressed in the auditory brainstem neurons of mice with hearing deficit, compared to mice with normal hearing ability, suggesting a role for this gene in hearing. [provided by RefSeq, Jan 2011] 8 8 8 q24.22 129092075 129201496 + 132916356 133025889 + 131904109 132013642 + 6480464 12477932;15363888;15489334;19322201;21139048;21890473;21906983;22082156;23000965;24457600;8590280 23167 E5RFJ2;E5RJS1;Q14156 ABBA01014213;ABBA01014214;AC092817;AK294485;AK302799;AK307433;AMYH02018802;AMYH02018803;BC037910;BC047323;BC071611;BC108667;BC131486;BC152442;BU632041;BX648595;CA775398;CH471060;CR749243;CX165980;D63477;DB451954;NG_028112;NM_015137;XM_005250849 AAH47323;AAH71611;AAI08668;AAI31487;AAI52443;AAI60042;BAA09764;BAG57708;BAG64001;CAH18099;CAH56143;EAW92138;NP_055952;Q14156;XP_005250906 Hs.204564 1650602;1684944;1735734;1847097;1857988;2164286;2164457;2179535 D8S1352E;D8S2121;RH16036;RH25366;RH69785;SGC31235;SHGC-36664;STS-R54000 DKFZp781J0562;KIAA0143 OTTHUMP00000197820;OTTHUMP00000227380;protein EFR3 homolog A;protein EFR3-like APPROVED protein-coding ENSG00000132294 HGNC:28970 17179 611798 REVIEWED 1602224 EFR3B EFR3 homolog B (S. cerevisiae) INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine; aflatoxin B1 2 2 2 p23.3 25105314 25222296 + 25264973 25382004 + 25042104 25159135 + 6480464 10231032;12477932;14702039;16344560;18391951;19913121;20628086;21890473;21980299;23517042;23563607;23669352;8619474;9110174 22979 B3KT90;E7ESK9;H7BXG9;Q9Y2G0 AB023170;ABBA01045130;ABBA01045131;ABBA01045132;ABBA01045133;ABBA01045134;ABBA01045135;ABBA01045136;ABBA01045137;AC012457;AC013267;AF131834;AK095190;AMYH02003429;AMYH02003430;AMYH02003431;AMYH02003432;AMYH02003433;BC049384;DA241650;NM_014971 AAH49384;AAY24353;BAA76797;BAG53002;NP_055786;Q9Y2G0 Hs.4892 2140818;2166481;2184574;5015861;5017433;7185938 A008S21;D10S16;D2S1292;D2S2499;STS-T76997 KIAA0953;RP11-509E16.1 OTTHUMP00000200942;OTTHUMP00000200943;OTTHUMP00000200944;OTTHUMP00000200945;OTTHUMP00000200946;protein EFR3 homolog B protein-coding ENSG00000084710 HGNC:29155 VALIDATED 1319047 EFS embryonal Fyn-associated substrate The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013] 14 14 14 q11.2-q12 3688322 3697553 - 23825609 23834842 - 23356400 23365633 - 1580863;6480464 11984006;12471123;12477932;15489334;16169070;16189514;17474147;20237496;21832049;21871071;23314748;24722188;8647432;9349509;9748319;9750131 10278 O43281 AA470981;AB001466;AB001467;ABBA01061320;AI808817;AK295933;AK314221;AL049829;AMYH02028869;BC034246;BC046403;BE645250;CH471078;NM_001277174;NM_005864;NM_032459;XM_005267256 AAH34246;BAA24588;BAA24589;BAG36894;BAG58718;EAW66163;EAW66164;NP_001264103;NP_005855;NP_115835;O43281;XP_005267313 Hs.24587 1659233;1672667;1712308;1730255;1730263;2108049;2157660;2157662;2157664;7184710;7187944 2018;2174;BCD2011;D14S93E;D14S94E;EFS_9081;G54063;RH68657;WI-21759 CAS3;CASS3;EFS1;EFS2;HEFS;SIN Cas scaffolding protein family member 3;OTTHUMP00000164593;OTTHUMP00000164594;signal transduction protein (SH3 containing) APPROVED protein-coding ENSG00000100842 HGNC:16898 09932 609906 REVIEWED 1352796 EFTUD1 elongation factor Tu GTP binding domain containing 1 ENCODES a protein that exhibits GTPase activity; ribosome binding; INVOLVED IN GTP catabolic process; mature ribosome assembly; PARTICIPATES IN ribosome biogenesis pathway; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; calcitriol 15 15 15 q25.2 59361739 59494111 - 82422561 82555104 - 82130220 82262763 - 737633;1580863;6480464;6907045 12477932 11329013;14702039;16344560;20531441;20966410;21139048;22863883;23898208 79631 H0YK75;H0YKI9;H0YKY7;H0YNW8;Q7Z2Z2 ABBA01060647;AC026624;AC026956;AC243919;AK023181;AK056656;AK300348;AMYH02030907;AMYH02030908;AMYH02030909;BC014628;BC041565;BG204990;BX538332;CH471136;DA260259;KF456107;NM_001040610;NM_024580 AAI52911;AAI56744;BAB14450;BAG51777;BAH13266;CAD98101;EAW99087;EAW99088;EAW99089;NP_001035700;NP_078856;Q7Z2Z2 Hs.459114 1673459;1712316;1756997;1847532;1852964;2185024 1990;A007G38;G54067;RH45867;SGC30254;SHGC-144354 FAM42A;FLJ13119;HsT19294;RIA1 elongation factor Tu GTP-binding domain-containing protein 1;elongation factor-like 1;ribosome assembly 1 homolog protein-coding ENSG00000140598 HGNC:25789 07812 VALIDATED 1349860 EFTUD1P1 elongation factor Tu GTP binding domain containing 1 pseudogene 1 15 15 15 q25.2 59773808 59802584 - 84748939 84795353 + 84080187 84126601 + 16344560 388159;648809 ABBA01029454;ABBA01029455;AC027807;AC103965;AMYH02030944;AMYH02030945;DB064528;DY655563;NR_036652;XM_370893 Hs.585157 1758353 SHGC-148139 FAM42B;HsT19321 APPROVED pseudo HGNC:31739 VALIDATED 6769435 EFTUD1P2 elongation factor Tu GTP binding domain containing 1 pseudogene 2 4 4 4 63468041 63470689 - 66008421 66011069 - 65142703 65145351 - 100422019 ABBA01022874;AC096754;AMYH02009351;NG_025113 pseudo HGNC:44202 INFERRED 1606577 EFTUD2 elongation factor Tu GTP binding domain containing 2 This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 17 17 17 q21.31 39638156 39687497 - 42927655 42976993 - 44850287 44899625 - 6480464;6907045;8699517;7240710;8554872 10788320;11971955;11991638;12226669;12403470;12456665;12477932;12840015;14559993;15146077;15257298;15302935;15489334;15635413;15848144;15998806;16055720;16159877;16169070;16196087;16247014;16723661;17081983;17314511;17332742;17353931;17577209;17620599;17643375;18029348;18781797;19471022;19596686;19615732;19738201;19875381;19946888;20085707;20360068;20379614;21081666;21139048;21145461;21182205;21252943;21890473;21900206;21906983;21907836;21963094;21988832;22079093;22178446;22305528;22365833;22471593;22623428;22863883;22939629;22952844;23000965;23084401;23188108;23239648;23398456;23443559;23602568;23862649;23879989;24332808;24337577;24457600;24654937;24816145;24999515;25027693;7584026;7584028;8125298;9233818;9774689 9343 B3KX19;K7EIT3;K7EIV5;K7EJ74;K7EP67;K7EQ26;K7ERJ5;Q15029 ABBA01028341;ABBA01028342;ABBA01028343;ABBA01028344;ABBA01028345;AC015936;AJ505017;AK126193;AK126464;AK126652;AK128148;AK225335;AK293108;AK296367;AK297392;AK302828;AK316098;AMYH02033502;AMYH02033503;BC002360;BX647305;CH471178;CR456774;D21163;DC353274;NG_032674;NM_001142605;NM_001258353;NM_001258354;NM_004247 AAH02360;ABM85527;ABW03758;BAA04699;BAF85797;BAG54294;BAG54331;BAG59042;BAG59832;BAG64023;BAH14469;CAD43720;CAG33055;EAW51573;EAW51574;NP_001136077;NP_001245282;NP_001245283;NP_004238;Q15029 Hs.151787 1668736;1857701;2121914;2183392;2185627;2191493 A007K28;D17S2017;MARC_23993-23994:1029524382:1;RH17387;RH25269;T03450 DKFZp686E24196;FLJ44695;KIAA0031;MFDGA;MFDM;SNRNP116;Snrp116;Snu114;U5-116KD 116 kDa U5 small nuclear ribonucleoprotein component;SNU114 homolog;U5 snRNP specific protein, 116 kD;U5 snRNP-specific protein, 116 kD;U5 snRNP-specific protein, 116 kDa;U5-116 kDa;elongation factor Tu GTP-binding domain-containing protein 2;hSNU114 APPROVED protein-coding ENSG00000108883 HGNC:30858 04869 603892;610536 REVIEWED 736832 EGF epidermal growth factor This gene encodes a member of the epidermal growth factor superfamily. The encoded protein is synthesized as a large precursor molecule that is proteolytically cleaved to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding the high affinity cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 4 4 4 q25 108127771 108227842 + 110834040 110934118 + 109912884 110012962 + 1580863;1626483;2317641;2317627;2317644;2317638;2317668;2317646;2317650;2317963;5490965;6480464;6484113;6906909;6906904;5688301;6907045;6906916;6906911;6906912;6906918;6906908;7240710;8554872;8699517 10811321;1347773;15885173;15982853;16417467;17475821;17671655;18505086;18571008;19357719;19390485;19506583;20127414;20482449;21354048;21701422;2260661;8093356 10085134;10199559;10436156;10559227;10567358;10579352;10648629;10734310;10748174;10788520;10913131;10973965;11438527;11751923;11786904;11796824;11823423;11844511;11894095;11896055;11903419;11914075;11925427;11950840;11971908;11994282;12009575;12093292;12138086;12141529;12163055;12163506;12192610;12202942;12218189;12297050;12368284;12388817;12397374;12425525;12477932;12508124;12531699;12540376;12593796;12620237;12637502;12643788;12667326;12672817;12722480;12768436;12788694;12795334;1281549;12879019;12954631;12960147;1334406;14507446;14520709;14523024;14560030;14614718;14651960;14662770;14665621;14676838;15003992;1501243;15063762;15081423;15087376;15129177;15175028;15180992;15183666;15192046;15194442;1522591;15252009;15256384;15260478;15272014;15329330;15373781;15373782;15373802;15475003;15481560;15485655;15485674;15488707;15489334;15491342;15509542;15536154;15574420;15611079;15613483;15620700;15622242;15659382;15663953;15675968;15729146;15735691;15748906;15798095;15802268;15837620;15860930;15886816;15901830;15913871;15950078;15950906;15962011;15982634;16019439;16033767;16115648;16134968;16210470;16214932;16248985;16274239;16274250;16282324;16314496;16316319;16332692;16344560;1639032;16407418;16407834;16413767;16428382;16436184;16502470;16584205;16636672;16691190;16728406;16762922;16788380;16820871;16837648;16847055;16872636;16885506;16939220;16946702;16969495;16979250;17123472;17175377;17204151;17223314;17227756;17311928;17316357;17324121;17334773;17392355;17397984;17433039;17453000;17473192;17479438;17545148;17562024;17567965;17573555;17578349;17612563;17617058;17626784;17634901;17661145;17673689;17762162;17851837;17852426;17897319;17898861;17912028;17940864;17943082;17950068;17962208;17968796;17986122;17991726;17991733;18006148;18036246;18080773;18088275;18094008;18096367;18156174;18167406;18187620;18212060;18271526;18271972;18276761;18292095;18325497;18349392;18365874;18382118;18398039;18434322;18441095;18463167;18467441;18483390;18485152;18487214;18490463;18511414;18519765;18543351;18583979;18632979;18676680;18722874;18757521;18773861;18813355;18831963;18844210;18990689;19010984;19011936;19014905;19020743;19032382;19056867;19064572;19073827;19074885;19081071;19086053;19087984;19110611;19124506;19127217;19141999;19144868;19167371;19170196;19172394;19179548;19203995;19236842;19319135;19336395;19380191;19388850;19403524;19415484;19453261;19460345;19470771;19484147;19488063;19491269;19492417;19520791;19531499;19544388;19549686;19549816;19592671;19604397;19608641;19619867;19624835;19625176;19634110;19670348;19692168;19708171;19727227;19749156;19817957;19823871;19834535;19840254;19840943;19853299;19880507;19887603;19895983;19896111;19900104;19913121;19920151;19921131;19951549;19953086;19996314;20033794;20036812;20092031;20101173;20108217;20126978;20157331;20158379;20164030;20169434;20197289;20201065;20201926;20203692;20207214;20303009;20332099;20351270;20362419;20364107;20375273;20379614;20398806;20412119;20418097;20423485;20424473;20429940;20430735;20444693;20453000;20466569;20472833;20487573;20498653;20514023;20564212;20587610;20598233;20606012;20621058;20628086;20628624;20631636;20634891;20644561;20674545;20690902;20714325;20727496;20727996;20800603;20818748;20819124;20830310;20832399;20851879;20854793;20889718;20963824;20969541;21029725;21048224;21062739;21087604;21099256;21123997;21186997;21187523;21209099;21212517;21224998;21236296;21247755;21273531;21274378;21309478;21358296;21376205;21436680;21439278;21533003;21567271;21678081;21752154;21868386;21872446;21971700;21982438;22022452;22033246;22070650;22087246;22106858;22122913;22129558;22236006;22279551;22293333;22308022;22401280;22403631;22404757;22413835;22416276;22433566;22457050;22479527;22479638;22481252;22493503;22503865;22504456;22505024;22532606;22534548;22574813;22578596;22621366;22668508;22677173;22701712;22721997;22727668;22745586;22773267;22782629;22797360;22829589;22829952;22852842;22914212;22925500;22951723;22990108;23007402;23090954;23188118;23201894;23219876;23228281;23229345;23382691;23403233;23419149;23457387;23466131;23542467;23577098;23608378;23631828;23645212;23689072;23711349;23731208;23790025;23810060;23843455;23844832;23869217;23869762;23872928;23899513;23902938;23912699;23936413;23963773;23986482;24036907;24039773;24043306;24045955;24160245;24203464;24268047;24346284;24465796;24703510;24769208;24816468;2789514;2790960;300079;3486749;3491360;6290982;6382023;6603475;7540053;7558411;7615511;7640657;7730382;7736574;8077234;8123596;8413296;8419140;8639530;8796265;8845374;9188692;9356464;9482941;9544989;9661876;9687510;9712850;9925763 1950 P01133 ABBA01063785;ABBA01063786;AC004050;AC005509;AF023155;AI628974;AK299306;AK307734;AMYH02009902;AY548762;BC093731;BC113461;BC143357;CA437074;CH471057;CU446298;DB227969;DB349864;JQ346088;KF457809;NG_011441;NM_001178130;NM_001178131;NM_001963;X04571;XM_005262796;XM_005262797;XM_005262798;XM_005262799;XM_005262800;XM_005262801;XM_005262802;XM_006714124;XM_006714125;XR_427532 AAA72173;AAH93731;AAI13462;AAS83395;AFA26280;BAG61319;CAA28240;EAX06257;NP_001171601;NP_001171602;NP_001954;P01133;XP_005262853;XP_005262854;XP_005262855;XP_005262856;XP_005262857;XP_005262858;XP_005262859;XP_006714187;XP_006714188 Hs.419815 1338978;1668950;1795744;2123441;2132746 D4S2350;D4S2623;D4S3145;EGF_435;SHGC4-992 HOMG4;URG OTTHUMP00000162922;OTTHUMP00000219721;OTTHUMP00000219722;beta-urogastrone;pro-epidermal growth factor APPROVED protein-coding ENSG00000138798 HGNC:3229 00578 131530;611718 REVIEWED 1603594 EGFEM1P EGF-like and EMI domain containing 1, pseudogene INTERACTS WITH cytarabine 3 3 3 q26.2 166365778 166946908 + 167967310 168548387 + 168249522 168830599 + 6480464 11181995;12477932;20210993;24324551;8889548 93556 Q0D2K5 ABBA01058718;ABBA01058719;ABBA01058720;ABBA01058721;ABBA01058722;AC018356;AC058333;AC061710;AC092954;AC112911;AC124893;AF086185;AMYH02008087;AMYH02008088;AMYH02008089;AMYH02008090;AMYH02008091;AMYH02008092;AMYH02008093;AMYH02008094;BC011266;BC103698;BC104748;BC105689;BC105690;BI461452;BM716713;CH471052;DN831821;DR000794;DT932647;DT932648;KF457709;KF459864;KF459871;KF459872;NR_021485 EAW78561;EAW78562;Q0D2K5 Hs.478158 1337323;1339558;1668267;1669880;1679577;1699002;1714477;1750917;1768426;1787944;1853082;1855835;2115321;2145749;5022578;7186045 A008K30;Cda19g12;D1S1423;D3S1243;D3S1520;D3S1614;D3S3358;D3S3809;RH103072;RH119749;RH80674;SHGC-104693;SHGC-173736;SHGC-77508;WI-5163 C3orf50;NCRNA00259 APPROVED pseudo HGNC:25149 VALIDATED 1352088 EGFL10 EGF-like-domain, multiple 10 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN detection of light stimulus involved in visual perception; skeletal muscle tissue regeneration; FOUND IN extracellular vesicular exosome q12 727966 AL109922;AL137007;AL450324;AL450394;XM_001126128;XM_001717769 CAC10575;CAI13283;CAI20452;CAI20453;Q5T1H1;XP_001126128;XP_001717821 bA307F22.3 protein-coding HGNC:21554 1354247 EGFL6 EGF-like-domain, multiple 6 This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. [provided by RefSeq, Jul 2008] X X X p22 17704800 17768780 + 13587694 13651694 + 13569575 13633575 + 1580863;6480464 10610727;10777661;12477932;12975309;16169070;16303743;16344560;18038328;20574786;21900206;23285163;23412934 25975 Q8IUX8 ABBA01071118;ABBA01071119;ABBA01071120;ABBA01071121;ABBA01071122;ABBA01071123;ABBA01071124;ABBA01071125;AC079383;AF186084;AF193055;AJ245671;AK075214;AK300137;AK300236;AK315018;AL117610;AMYH02038895;AMYH02038896;AY358333;BC038587;CH471074;CS430826;DA534733;DC380958;NG_015963;NM_001167890;NM_015507 AAF27812;AAG22483;AAH38587;AAQ88699;ABM81864;BAC11477;BAG37508;BAG61924;BAG62004;CAB56014;CAB92132;CAL60149;EAW98821;EAW98822;NP_001161362;NP_056322;Q8IUX8 Hs.12844 1670158;1701694;1701698;1702738;1748963;2109275;2114586;2154964 DXS1526;DXS7936;DXS7938;EGFL6_9442;L77195;L77196;SHGC-110611;STS-W80818 DKFZp564P2063;MAEG;W80 EGF repeat-containing protein 6;EGF-like protein 6;MAM and EGF domain containing;MAM and EGF domains-containing gene protein;OTTHUMP00000022934;OTTHUMP00000022935;epidermal growth factor-like protein 6 APPROVED protein-coding ENSG00000198759 HGNC:3235 02212 300239 REVIEWED 1602888 EGFL7 EGF-like-domain, multiple 7 This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 9 9 9 q34.3 110071376 110080865 + 139553308 139567130 + 136658856 136672678 + 6480464 12477932;12975309;14592969;14702039;15085134;15164053;15489334;16713569;17207965;17934064;18193184;18521848;19116145;19503073;19824075;19913121;20034472;20213100;20423846;20628086;20837907;20953557;21890473;21988832;22013081;22018271;22037871;22160377;23280513;23386126;23404186;23558933;23922111 51162 Q9UHF1;R4GMT3 AB125649;ABBA01022715;ABBA01022716;AF186111;AK091964;AL512735;AL590226;AMYH02021905;AMYH02021906;AY358902;AY358903;BC012377;BC088371;BI770335;BM919940;BX361374;BX647866;CB047042;CH471090;KC485578;NM_016215;NM_201446;NR_045110;NR_045111;NR_046367;XM_006717138;XM_006717139;XM_006717140;XM_006717141 AAF01429;AAH12377;AAH88371;AAQ89261;AAQ89262;ADQ31907;AGJ83826;BAD01469;BAG52452;CAC21666;EAW88244;EAW88245;EAW88246;EAW88247;EAW88248;NP_057299;NP_958854;Q9UHF1;XP_006717201;XP_006717202;XP_006717203;XP_006717204 Hs.91481 MGC111117;NEU1;RP11-251M1.2;ZNEU1 EGF-like protein 7;NOTCH4-like protein;OTTHUMP00000022597;OTTHUMP00000022598;OTTHUMP00000022599;VE-STATIN;epidermal growth factor-like protein 7;multiple EGF-like domains protein 7;multiple epidermal growth factor-like domains protein 7;vascular endothelial statin APPROVED protein-coding ENSG00000172889 HGNC:20594 16351 608582 REVIEWED 1347289 EGFL8 EGF-like-domain, multiple 8 ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH etoposide; trichostatin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 p21.32 33699452 33703109 + 32132382 32136062 + 32164605 32168285 + 6480464 12477932;12975309;14574404;14656967;15340161;15489334;17207965;19143814;19851445;20587610;21737648;21965749;21988832;22359512;23362303;23535732 80864 Q5JP22;Q99944 AB190520;ABBA01038107;ABBA01038108;AK126457;AK309657;AL662828;AL662884;AL845464;AMYH02013469;AY358139;BC035574;BC052591;BX284686;BX927239;CH471081;CR812478;CR933878;NM_030652;NR_037860;U89336 AAB47494;AAH35574;AAH52591;AAQ88506;ADQ32862;BAD51398;EAX03598;NP_085155;Q99944 Hs.731888 1672589;1675331;1745967;2124218;2136027;5015619;5015961;5037552 D11S3114;D15S1477;D6S1154E;D6S1412;D8S2279;RH124332;RH91426;WI-11350 C6orf8;FLJ44493;FLJ52513;FLJ75166;FLJ78536;FLJ97375;MGC44938;MGC59719;NG3 EGF-like protein 8;OTTHUMP00000029330;OTTHUMP00000029331;OTTHUMP00000174884;VE-statin-2;epidermal growth factor-like protein 8;vascular endothelial statin-2 protein-coding ENSG00000241404 HGNC:13944 16854 609897 VALIDATED 1602070 EGFLAM EGF-like, fibronectin type III and laminin G domains ENCODES a protein that exhibits glycosaminoglycan binding (inferred); INVOLVED IN extracellular matrix organization (inferred); peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (inferred); positive regulation of cell-substrate adhesion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN basement membrane (inferred); cell junction (inferred); interstitial matrix (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); cytarabine 5 5 5 p13.2-p13.1 38144780 38352160 + 38258511 38465582 + 38258409 38465480 + 6480464;8554872 12477932;14702039;18641643;19727342;20078962;21129441;21145461;21890473;21963094;22760553;24163370 133584 D6RG24;D6RJD2;Q63HQ2 ABBA01024197;ABBA01024198;ABBA01024199;ABBA01024200;AC010338;AC010351;AC010457;AC091839;AK092479;AK092994;AK096474;AK097549;AK291602;AL832269;AL833357;AMYH02011186;AMYH02011187;BC031251;BC033177;BC033188;BC063822;BM928177;BX647551;CH471119;DN995271;KC876961;NM_001205301;NM_152403;NM_182798;NM_182801;XM_006714440 AAH31251;AAH33177;AAH33188;AAH63822;BAC03900;BAC04013;BAC04800;BAC05096;BAF84291;CAH56137;EAW55966;EAW55967;EAW55968;EAW55969;EAW55970;NP_001192230;NP_689616;NP_877950;NP_877953;Q63HQ2;XP_006714503 Hs.20103 1683589;1696578;1708434;1710268;1762841;1785674;1785676;2136562;5095032 AFMa274wc9;EGFLAM;RH94281;SHGC-146613;SHGC-70164;SHGC-70165;SHGC-78771;SHGC-83917;SHGC-85228 AGRNL;FLJ39155;PIKA AGRINL;EGF-like, fibronectin type-III and laminin G-like domain-containing protein;OTTHUMP00000161787;OTTHUMP00000161788;OTTHUMP00000161789;OTTHUMP00000221298;OTTHUMP00000221299;OTTHUMP00000221300;OTTHUMP00000221301;OTTHUMP00000221302;agrin-like protein;pikachurin protein-coding ENSG00000164318 HGNC:26810 13433 VALIDATED 6481203 EGFLAM-AS1 EGFLAM antisense RNA 1 p13.1 17567985 100874117 AC091839;BP871037 Hs.582365 APPROVED ncrna HGNC:41169 5132796 EGFLAM-AS2 EGFLAM antisense RNA 2 5 5 5 p13.2 38287133 38290153 - 38399916 38403573 - 38399814 38403471 - 14702039;16344560 100506475 ABBA01024198;AC091839;AI359548;AK093278;AMYH02011187;BX093664;DB029288;HG497891;NR_102749;NR_102750 Hs.662304;Hs.733718 1696578 SHGC-78771 FLJ35959 APPROVED ncrna ENSG00000248572 HGNC:41168 VALIDATED 6481209 EGFLAM-AS3 EGFLAM antisense RNA 3 p13.2 100874116 AC091839 tbp1 APPROVED ncrna HGNC:41167 5683645 EGFLAM-AS4 EGFLAM antisense RNA 4 5 5 p13.2 38282371 38291088 - 38282269 38290986 - 12477932 100852408 ABBA01024197;AC010351;AMYH02011186;BC014585;HG497889;NR_046219 Hs.570954 APPROVED ncrna ENSG00000248730 HGNC:41166 VALIDATED 69152 EGFR epidermal growth factor receptor The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. Multiple alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 7 7 7 p12 55192332 55380657 + 55086678 55279262 + 55019032 55207338 + 1298665;1580956;1580957;1580953;1580954;1580955;1581898;734918;1581905;734919;1580863;1581912;1601010;2289947;2289949;2293731;2289943;2289979;2289955;2289980;2289950;2289951;2293728;2293730;2293732;2298502;2298499;1581908;2317963;5131642;5135288;5131862;5131627;5131628;5133242;5131465;5131531;5131451;5131626;5037225;5131868;5131633;1578630;5131638;5131870;5131485;5131486;5131873;5131641;5131454;5131629;5131640;5131632;5133241;5131631;5131452;5131534;5131455;5131639;5131867;5131871;5131468;5131512;5131466;5131630;5131525;5131634;5131482;5490965;6480464;6484113;6907045;7240710;7204495;7204496;7204501;8551769;8554872;8699517 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1956 C9JYS6;E9PFD7;P00533;Q504U8 AB209442;ABBA01011847;ABBA01011848;ABBA01011849;ABBA01011850;AC006977;AC073324;AF125253;AF125539;AF277897;AF288738;AI217671;AK225422;AK290352;AK294750;AL598260;AMYH02015730;AMYH02015731;AU137334;AW163038;AW295229;AY550966;AY588246;AY698023;AY698024;BC070081;BC094761;BC118665;BC128419;CB160831;CH236957;CH471201;CS238505;CS542488;DQ088980;EF210210;EF210211;GM619915;GU228573;GU228584;GU255993;HC464560;HC464562;HC464564;HC464566;HM437234;HM437235;HQ730875;HQ912715;HQ999997;JA807020;JA807083;JA913745;K03193;KF458469;M11234;M38425;NG_007726;NM_005228;NM_201282;NM_201283;NM_201284;U48722;U48723;U48724;U48725;U48726;U48727;U48728;U48729;U51732;U95089;X00588;X00663;X06370 AAA52370;AAA52371;AAA63171;AAB53063;AAC50796;AAC50797;AAC50798;AAC50799;AAC50800;AAC50801;AAC50802;AAC50803;AAC50804;AAG35786;AAG35787;AAG35788;AAG35789;AAG35790;AAG43240;AAG43243;AAG43244;AAH94761;AAI18666;AAI28420;AAK01080;AAS07524;AAS83109;AAT52212;AAT97978;AAT97979;AAZ66620;ABQ66237;ABQ66238;ADL28125;ADN43066;ADY76965;ADZ75461;BAD92679;BAF83041;BAH11869;CAA25240;CAA25282;CAA29668;CAJ55813;CAM91181;CAV33298;CBK51921;CBK51922;CBK51923;CBK51924;CCO75437;CCO75439;CCV20014;EAW50962;EAW50963;EAW50964;EAW50965;NP_005219;NP_958439;NP_958440;NP_958441;P00533 Hs.488293;Hs.605083 1336820;1645594;1650250;1658756;1669425;1669533;1674565;1678633;1693660;1693670;1710926;1714593;1715591;1735650;1741573;1752349;1771941;1790593;1851099;1857869;2141565;2141993;2147564;2154334;2167237;2169691;2181704;2184313;2217290 D7S1988;D7S2066E;D7S2357;D7S2550;EGFR;EGFR_3293;G31779;GDB:1317670;GDB:1318577;GDB:181540;GDB:4585323;GDB:4585359;GDB:6028548;HSC215_(7Gr546mb);RH11126;RH119810;RH120939;RH12420;RH17519;RH46070;RH71234;RH94246;SHGC-106249;SHGC-32574;SHGC-57944;SHGC-58591;SHGC-58597;SHGC-84087;WI-21765 ERBB;ERBB1;HER1;PIG61;mENA OTTHUMP00000159661;OTTHUMP00000159662;OTTHUMP00000159663;OTTHUMP00000209210;OTTHUMP00000209211;avian erythroblastic leukemia viral (v-erb-b) oncogene homolog;cell growth inhibiting protein 40;cell proliferation-inducing protein 61;epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian);erythroblastic leukemia viral (v-erb-b) oncogene homolog;proto-oncogene c-ErbB-1;receptor tyrosine-protein kinase erbB-1 APPROVED protein-coding ENSG00000146648 HGNC:3236 00579 131550;211980 REVIEWED 7158345 EGFR-AS1 EGFR antisense RNA 1 ASSOCIATED WITH Carcinoma, Non-Small-Cell Lung (inferred); Carcinoma, squamous cell of head and neck (inferred) 7 7 7 55353062 55362267 - 55247443 55256642 - 55179750 55188949 - 8554872 8889549 100507500 AA004947;ABBA01011849;AC006977;AC073324;AK123474;AMYH02015731;NG_007726;NR_047551 Hs.720489 1669533;1678633;1693670;1851099 RH94246;SHGC-32574;SHGC-57944;SHGC-58597 ncrna ENSG00000224057 HGNC:40207 VALIDATED 1342940 EGI epilepsy, generalized, idiopathic ASSOCIATED WITH Epilepsy, Idiopathic Generalized (inferred) 7240710 1922810 1957 1339566 D8S256 HGNC:3237 600669 735297 EGLN1 egl-9 family hypoxia-inducible factor 1 The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009] 1 1 1 q42.1 204764347 204825640 - 231499497 231560790 - 231363751 231425044 - 1580863;1334466;6480464;6483503;6483358;6484113;6907045;7240710;8554872;8699517 14597660;19364912;20396958 11056053;11574160;11595178;11595184;11598268;12163023;12351678;12477932;12615973;12670503;12912907;15084514;15156561;15210114;15247232;15474027;15563275;15721254;15897452;16155211;16157596;16161047;16407130;16489060;16511565;16710414;16782814;16815840;16880998;16956324;16958618;17060326;17353276;17579185;17848618;17932321;17933562;18072750;18264140;18285459;18347341;18505927;18776187;18834144;19147576;19159641;19208626;19304911;19339211;19477431;19546213;19563769;19604478;19624289;19631610;19639506;19724277;19737309;19915370;20028863;20156434;20404338;20466884;20574527;20724477;20727020;20801873;20856199;20956315;20959442;20961960;20978146;21030426;21139048;21251613;21335603;21559462;21601578;21620138;21748337;21792862;21828119;21877141;21887331;21890473;21933857;21988832;22006925;22068265;22236543;22286099;22308030;22343896;22395314;22488178;22595196;22747465;22802519;22833384;22946054;22975349;23077544;23088526;23130672;23225569;23275444;23333304;23334958;23413029;23487784;23666208;23694817;23732909;23787140;23836663;24121508;24195777;24816145;25036637;8606489;9828130 54583 Q9GZT9;Q9NTU9;R4SCQ0 ABBA01033038;ABBA01033039;AF229245;AF246630;AF246631;AF277174;AF277176;AF334711;AI017372;AJ227859;AJ310543;AL117352;AL445524;AL833885;AMYH02002889;AMYH02002890;BC005369;CH471098;CS681768;DQ975380;JC258725;JC303364;KC554048;NG_015865;NM_022051;XM_005273166;XM_005273167;XM_006711782 AAG33965;AAG34568;AAH05369;AAK07534;AAK07536;ABM44413;AGL94925;CAC42509;CAD38741;CAP11376;CDM55390;CDM55571;EAW69959;NP_071334;Q9GZT9;XP_005273223;XP_005273224;XP_006711845 Hs.444450 1671253;1676396;1778869;2147197;2150055;2156052;2165604;2165998;2166000;2173845 A001W16;G19709;RH15809;RH36231;RH48299;RH64701;RH79614;SHGC-76521;STS-T77466;WI-11258 C1orf12;DKFZp761F179;ECYT3;HIF-PH2;HIFPH2;HPH-2;HPH2;PHD2;SM20;ZMYND6 HIF prolyl hydroxylase 2;HIF-prolyl hydroxylase 2;OTTHUMP00000036152;egl nine homolog 1;egl nine-like protein 1;hypoxia-inducible factor prolyl hydroxylase 2;prolyl hydroxylase domain-containing protein 2;zinc finger MYND domain-containing protein 6 APPROVED protein-coding ENSG00000135766 HGNC:1232 06971 606425;609820 REVIEWED 736328 EGLN2 egl-9 family hypoxia-inducible factor 2 The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011] 19 19 19 q13.2 38105456 38114745 + 41305048 41314346 + 40799143 40808441 + 1580863;1334463;1334466;6480464;6483503;6484113;6907045 14597660;15563310;20396958 11076863;11230166;11256614;11292861;11292862;11574160;11595178;11595184;11598268;11850811;12004076;12039559;12163023;12351678;12477932;12615973;12670503;14702039;15156561;15210114;15231748;15247232;15474027;15489334;15489336;16169070;16344560;16381901;16509823;16511565;16649251;16958618;17101781;17114296;18264140;18285459;18710826;18773095;18927305;19134330;19147576;19229863;19339211;19587290;19631610;20418890;20574001;20599946;20600011;20727020;20840881;20959442;20978146;21163940;21748337;21877141;21887331;21951999;22006925;22080838;22286099;22343896;22395314;22859986;23026137;23077531;23275444;23531419;23602568;23732909;23932902;24045616;24195777;24250222;24935227 112398 M0QXM8;M0QXR0;M0R035;M0R0Z6;M0R110;M0R1A3;M0R1L0;M0R1W4;M0R2X9;M0R350;Q96KS0 AA994838;ABBA01040791;ABBA01040792;AC008537;AJ310544;AK025396;AK026863;AK074408;AK098182;AK314741;AL133009;AL832506;AMYH02036125;AX553864;AX923468;AY040565;BC001723;BC036051;BG719538;CH471126;DA300182;DB049419;NM_053046;NM_080732 AAH01723;AAH36051;AAK82943;BAG37282;CAB61353;CAC42510;CAD58204;CAF02209;CAL38684;EAW57007;EAW57008;EAW57009;EAW57010;EAW57011;NP_444274;NP_542770;Q96KS0 Hs.515417;Hs.730737 1677218;2118954;2160477 D2S2863;RH93347;SHGC-64133 DKFZp434E026;EIT6;FLJ95603;HIF-PH1;HIFPH1;HPH-1;HPH-3;PHD1 HIF prolyl hydroxylase 1;HIF-prolyl hydroxylase 1;egl nine homolog 2;estrogen-induced tag 6;hypoxia-inducible factor prolyl hydroxylase 1;prolyl hydroxylase domain-containing protein 1 APPROVED protein-coding ENSG00000269858 HGNC:14660 06970 606424 REVIEWED 732652 EGLN3 egl-9 family hypoxia-inducible factor 3 ENCODES a protein that exhibits peptidyl-proline 4-dioxygenase activity; INVOLVED IN activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; peptidyl-proline hydroxylation to 4-hydroxy-L-proline; PARTICIPATES IN hypoxia inducible factor pathway; renal cell cancer pathway; vascular endothelial growth factor signaling pathway; FOUND IN cytoplasm; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 14 14 14 q13.1 14258646 14285539 - 34393421 34420284 - 33924215 33951078 - 1580863;1334466;6480464;6483503;6484113;6907045 14597660;20396958 11574160;11595178;11595184;11598268;12163023;12477932;12615973;12670503;14702039;15156561;15210114;15247232;15251459;15474027;15489334;15721254;16098468;16407229;16511565;16958618;17003045;17344222;17684156;18264140;18337469;18347341;18781797;18927305;18954447;19147576;19339211;19574556;19584355;19724277;19737309;19786027;20028863;20379614;20599946;20727020;20959442;20978507;21297970;21317538;21421125;21483450;21575608;21620138;21748337;21877141;21887331;21890473;21906983;21987572;21988832;22006925;22087251;22286099;22290580;22343896;22395314;22778395;22797300;22797925;22898032;22905089;22948157;23275444;23345396;23601303;23732909;23886708;24015760;24195777;24477694;8125298 112399 F8VR39;F8W1G2;G3V3M1;Q9H6Z9 ABBA01061446;AJ310545;AK025273;AK026918;AK123350;AK225473;AL358340;AMYH02028976;BC010992;BC064924;BC102030;BC105938;BC105939;BC111057;BG716229;BX346941;BX354108;CH471078;CR592368;DQ975379;NM_022073;XM_006720015 AAH10992;AAH64924;AAI02031;AAI05939;AAI05940;AAI11058;ABM44412;BAB15101;BAG53892;CAC42511;EAW65929;NP_071356;Q9H6Z9;XP_006720078 Hs.135507 1681167;1690284;1690942;2166930 RH69722;RH80356;RH93914;RH93981 FLJ21620;HIF-PH3;HIFP4H3;HIFPH3;HPH-1;HPH-3;MGC125998;MGC125999;PHD3 HIF prolyl hydroxylase 3;HIF-prolyl hydroxylase 3;OTTHUMP00000178814;OTTHUMP00000243967;egl nine homolog 3;egl nine-like protein 3 isoform;hypoxia-inducible factor prolyl hydroxylase 3;prolyl hydroxylase domain-containing protein 3 APPROVED protein-coding ENSG00000129521 HGNC:14661 06972 606426 VALIDATED 8549451 EGLN3P1 egl-9 family hypoxia-inducible factor 3 pseudogene 1 12 12 12 21269744 21270460 - 16124827 16125543 - 15971893 15972609 - 100420503 ABBA01067897;AC022073;AMYH02026104;NG_023986 pseudo HGNC:49857 INFERRED 2312701 EGOT eosinophil granule ontogeny transcript (non-protein coding) 3 3 3 p26.1 4728876 4731274 - 4790876 4793274 - 4749192 4751590 - 17351112;22303364;23535729 100126791 ABBA01020466;AC018816;AMYH02006184;BC039547;NG_016144;NR_004428 Hs.663059 1701556 RH104411 EGO;NCRNA00190 ncrna ENSG00000235947 HGNC:37129 611662 VALIDATED 737111 EGR1 early growth response 1 The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppresor gene. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 133922029 133925852 + 137801181 137805004 + 138465492 138469315 + 1580863;1626499;1626496;1626498;5131853;5131854;5131877;5131894;5131993;5131872;4144870;5131902;5131903;5131654;5131887;5132266;5131860;5131862;5131878;5130915;5131874;5131875;5131883;5131942;5131647;5131652;5131881;5131892;5131944;2289081;5131899;5131937;5131859;5131644;5131645;5131885;4890001;5131973;5131985;5131938;5131662;5131893;5131876;5131925;5131984;5131660;5131890;5131898;5131904;5131939;5131943;5131888;5131924;6480464;6907045 10712437;10806043;11021835;11254538;11948124;12816737;14670837;14961185;15033019;15469929;15597579;15774784;15809371;16025126;16124058;16488723;16551742;16601242;16713977;16930406;16933469;17310878;17384085;17420284;18356564;18507785;18599502;18774390;18830406;19158123;19188657;19200397;19342415;19347046;19517020;19679873;19833116;20023177;20110555;20539010;20675054;20889906;20935109;21099169;21283769;21289196;21489990;21559295;7585551;7684483;9212230 10049687;10051405;10079243;10082522;10409428;10575214;10671503;10849212;1090709;11124866;11251186;11278640;11795984;11819815;11830539;11909874;11925592;11956220;11978801;12011097;12065847;12165491;12235180;12379479;12384223;12393577;12433834;12439908;12456801;12457461;12470865;12477932;12507899;12517959;12543866;12553019;12553721;12560487;12560508;12566441;12569082;12571843;12618431;12637574;12690110;12706485;12729460;12840049;12872165;12890669;12947119;12958075;1383501;1411083;14522979;14662774;14722058;14744935;14966901;14979875;14985468;15003938;15023995;15155664;15211096;15225550;15231681;15449318;15486985;15489334;15517593;15523672;15545275;15548700;15611055;15616591;15640148;15689620;1569051;15709168;15875316;15910736;15923644;15999367;16007175;16079301;16091742;16093249;16260776;16382041;16393964;16464174;16552541;1662794;16702209;16741963;16831524;16858414;16995904;1702972;17099140;17257596;17448597;17494953;17502875;17516844;17559061;17581316;17599039;17631285;17631291;17671831;17932312;17967787;17975260;17986608;18027854;18067864;18068676;18088351;18171299;18174470;18204200;18215136;18247371;18281035;18281687;18303024;18316600;18324520;18434015;18434089;18435749;18460021;18469860;18489490;18515748;18525291;18583706;18604866;18636116;18675783;18682391;18704310;18711316;18718911;18772333;18780286;18842581;18989526;19032775;19050264;19057511;19067769;19074480;19074849;19112164;19115247;19131339;19152168;19245972;19261809;19276347;19307156;19307576;19374776;19426596;19432968;19435811;19446747;19467232;19526316;19724854;19747485;19765320;19781349;19786090;19822898;19837667;19837979;19878561;19885607;19888474;19913601;19915002;19940138;20009530;20016208;20018936;20053757;20087343;20121949;20144677;20190820;20204305;20348948;20363028;20372793;20398657;20403028;20414733;20448047;20489156;20506119;20507991;20578042;20585888;20621662;20690147;20811575;20862322;20864524;20936779;20945384;2109185;2110381;21118966;21160498;21189327;21212994;21224049;21297666;21321112;21325822;21336263;21354100;21354147;21365018;21368226;21419860;21436631;21479245;21506108;21551235;21596316;21617851;21688838;21725089;21743491;21743958;21791614;21931594;21968973;21995436;21998680;22053691;22095683;22115966;22127986;22140445;22198386;22260630;22316125;22344601;22354777;22428032;22431919;22433566;22455954;22508482;22531302;22634339;22659570;22713211;22721276;22832523;22878149;22912725;22918686;23029358;23103837;23121767;23127556;23142458;23152075;23178451;23363221;23409769;23416169;23433111;23468057;23478574;23592216;23632636;23696025;23715767;23717422;23718776;23755764;2377485;23802749;23857582;23874821;23945289;24001789;24011795;24076422;24098051;24106272;24190424;24297681;24337575;24384380;24436125;24451137;24603130;24657079;24704156;3127059;3839394;7624335;8662759;8668170;9806899 1958 P18146;Q546S1 ABBA01068671;AC113403;AJ243425;AK298101;AK301065;AMYH02012293;BC041701;BC073983;CH471062;CS691417;M24019;M62829;M80583;NG_021374;NM_001964;X52541 AAA35815;AAH73983;ACE86880;ACE87567;BAG60386;BAG62672;CAA36777;CAB46678;CAP12211;EAW62135;EAW62136;NP_001955;P18146 Hs.326035;Hs.708393 1671899;1794570;1794878;1795128;1795746;2131350;2152663 D5S2415;EGR1_437;PMC321436P3;PMC64850P3;PMC98754P1;SHGC-11945;WI-12096 AT225;EGR-1;G0S30;KROX-24;NGFI-A;TIS8;ZIF-268;ZNF225 OTTHUMP00000159483;early growth response protein 1;nerve growth factor-induced protein A;transcription factor ETR103;transcription factor Zif268;zinc finger protein 225;zinc finger protein Krox-24 APPROVED protein-coding ENSG00000120738 HGNC:3238 00549 128990 REVIEWED 1352442 EGR2 early growth response 2 The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 10 10 10 q21.1 57839025 57846195 - 64571756 64578927 - 62811996 62893517 - 1358619;1601012;1601014;1580863;6480464;6484113;7240710;8554872;8699517 10369870;10502832;12970165 10371530;10762521;10960786;11239949;11523566;11545686;11835375;11909874;12471219;12477932;12560487;12609493;12687019;12736090;14532282;14596916;14702039;15164054;15173177;15241803;15489334;15947997;16169070;16198564;16344560;16495311;16582099;16912585;17717711;18678671;19000991;19453261;19592273;19651900;20067763;20144677;20194224;20301384;20301532;20301641;20379146;20398657;20506119;20513111;20628624;20687139;21042708;21057508;2111009;21479245;21514423;21703609;21836637;21988832;22089088;22271166;22327514;22522483;22546699;22691714;22734907;22765307;22832960;22915601;23042114;23485457;23747400;23924943;24007274;2496302;3140236;7935840;8093858;8702157;9537424 1959 B4DL38;P11161 ABBA01019491;AF139463;AK091399;AK296830;AK312813;AL133417;AL357125;AMYH02023195;BC035625;CD370447;CH471083;CQ834156;CQ834160;CR749641;DA581108;DB242561;HI574260;J04076;KF459538;NG_008936;NM_000399;NM_001136177;NM_001136178;NM_001136179;X53700;XM_005269590 AAA52372;AAD24588;AAH35625;BAG35671;BAG52349;BAG59400;CAH05293;CAH05295;CAH18435;CBX47619;EAW54238;EAW54239;NP_000390;NP_001129649;NP_001129650;NP_001129651;P11161;XP_005269647 Hs.1395 1742229;1795748;2145828 EGR2_611;GDB:193860;RH1580 AT591;CMT1D;CMT4E;DKFZp686J1957;EGR-2;FLJ14547;KROX20 E3 SUMO-protein ligase EGR2;KROX-20, Drosophila, homolog (early growth response-2);Krox-20 homolog, Drosophila;OTTHUMP00000019675;early growth response protein 2;zinc finger protein Krox-20 APPROVED protein-coding ENSG00000122877 HGNC:3239 00551 129010;145900;605253;607678 REVIEWED 736598 EGR3 early growth response 3 This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010] 8 8 8 p23-p21 21507165 21512936 - 22545172 22550815 - 22687659 22693302 - 1580863;6480464 11909874;12477932;14525795;15171706;15173177;15489334;17360599;18059339;1906159;19124717;19453261;19822898;19839995;19965691;20144677;20379146;20506119;20537399;20634891;20687139;21421043;22276163;22370066;22425949;23342084;23460371;23485457;23904169;23906810;23935197;23962955;8443122;8889549;9488654;9731539 1960 B4DH80;E5RIM5;Q06889 ABBA01005526;AC105046;AK292464;AK294968;AK295134;AK313604;AMYH02017595;BC104765;BC112279;CH471080;DC333411;N66802;NM_001199880;NM_001199881;NM_004430;S40832;X63741;XM_005273425;XM_005273426 AAB19317;AAI04766;AAI12280;ADR82983;BAF85153;BAG36369;BAG58041;BAG58157;CAA45275;EAW63649;NP_001186809;NP_001186810;NP_004421;Q06889;XP_005273482;XP_005273483 Hs.534313 1656272;1788810;2108051;2126099;5123853 EGR3_8320;G15926;RH141385;RH17894;WI-15547 EGR-3;MGC138484 OTTHUMP00000123491;OTTHUMP00000224671;PILOT;early growth response protein 3;zinc finger protein pilot APPROVED protein-coding ENSG00000179388 HGNC:3240 03881 602419 REVIEWED 735817 EGR4 early growth response 4 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN positive regulation of cell proliferation (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); INTERACTS WITH acetylsalicylic acid; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 2 2 2 p13 73368884 73371656 - 73518057 73520829 - 73290929 73293701 - 728504;1580863;6480464 1584812 12477932;12560487;15815621;16344560;1658795;19828938;20144677;2072895;22691714;8504297 1961 B7ZKU3;Q05215 ABBA01075580;AC010913;AK314154;AMYH02004072;BC034462;BC136252;BC143379;BX091371;CH471053;DA151016;DA711319;NM_001965;X60104;X69438 AAI36253;AAI43380;AAX88903;BAG36840;CAA42698;CAA49214;EAW99734;NP_001956;Q05215 Hs.3052 2185254 RH70849 AT133;EGR-4;NGFI-C;NGFIC;PAT133 OTTHUMP00000213065;early growth response protein 4 protein-coding ENSG00000135625 HGNC:3241 00550 128992 VALIDATED 1346487 EHBP1 EH domain binding protein 1 This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 2 2 2 p15 62745754 63118175 + 62900986 63273622 + 62673851 63046487 + 6480464;7240710;8554872 10048485;12107410;12477932;14676205;14702039;15144186;15247266;15342556;16344560;17643375;18029348;18264098;19318432;19423541;19549807;19767753;19866473;19900942;19902474;20450899;20460480;20468071;20690139;20717903;20878950;20936779;21071540;21139048;21145461;21890473;21906983;22412388;24097068 23301 A8K930;B5MC86;C9IYU2;C9J268;C9JEP1;C9K0H9;H7BZ98;H7C0Q4;H7C1E6;Q8NDI1 AB020710;ABBA01075391;ABBA01075392;ABBA01075393;ABBA01075394;ABBA01075395;ABBA01075396;ABBA01075397;AC007098;AC009501;AC092155;AC092567;AK000828;AK000986;AK292545;AK309125;AK310828;AL833968;AMYH02003946;AMYH02003947;AMYH02003948;AMYH02003949;AMYH02003950;AMYH02003951;AY331186;AY531390;BC029477;BC067215;BP361773;CA394214;CH471053;DA403235;KF456669;NG_016758;NM_001142614;NM_001142615;NM_001142616;NM_015252;XM_005264225;XM_005264226;XM_005264227;XM_005264228;XM_006711971 AAH29477;AAH67215;AAQ97141;AAS48537;AAX82024;AAY14789;AAY24356;BAA74926;BAA91391;BAF85234;BAG50844;CAD38814;EAW99969;EAW99970;EAW99971;NP_001136086;NP_001136087;NP_001136088;NP_056067;Q8NDI1;XP_005264282;XP_005264283;XP_005264284;XP_005264285;XP_006712034 Hs.271667 1341515;1645726;1654591;1655817;1656303;1660254;1686446;1689590;1697226;1714547;1772077;1779858;1784142;2143598;2150125;2161044;2161046;2171958;2175393;2180404;5020940;5022578;5093982 A005N18;A010A05;D1S1423;D2S2090;D2S2320;D2S2578;G20349;G29126;G33037;RH102105;RH119787;RH47091;RH65596;RH66030;RH68300;RH68485;RH68604;RH69312;RH79581;RH92658;SHGC-153857;SHGC-154630;WI-16387 HPC12;KIAA0903 EH domain-binding protein 1;NACSIN;NPF calponin-like protein;OTTHUMP00000159826;OTTHUMP00000201902;OTTHUMP00000201903;OTTHUMP00000201905 APPROVED protein-coding ENSG00000115504 HGNC:29144 10109 609922;611868 REVIEWED 1342687 EHBP1L1 EH domain binding protein 1-like 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 11 11 11 q13.1 62670174 62686826 + 65343509 65360121 + 65576038 65592650 + 6480464;8554872 11790784;12107410;12477932;14702039;19946888;20708005;21139048;21906983;22863883;22939629;24816145 254102 E9PIH6;E9PSB0;H0YDZ9;Q8N3D4 ABBA01024108;ABBA01024109;ABBA01024110;AK024451;AK092750;AL713799;AL834433;AMYH02024961;AP001362;BC024207;BX443367;CA397617;NM_001099409;XM_005273867;XM_005273868;XM_005273869;XM_005273870;XM_006718486;XM_006718487 AAH24207;BAB15741;CAD39093;NP_001092879;Q8N3D4;XP_005273924;XP_005273925;XP_005273926;XP_005273927;XP_006718549;XP_006718550 Hs.502867 1673455;1686330;5015619;5015961;5020948;5037552 D11S3114;D11S4617;D15S1477;D8S2279;G35510;RH80452 DKFZp762C186;FLJ35431 EH domain-binding protein 1-like protein 1;OTTHUMP00000233128;tangerin protein-coding ENSG00000173442 HGNC:30682 VALIDATED 1319124 EHD1 EH-domain containing 1 This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013] 11 11 11 q13 61946373 61972260 - 64620206 64647181 - 64852727 64879713 - 1580863;6480464;6907045;8554872 10395801;10564830;10673336;11423532;12032069;12121420;12477932;12665801;14702039;15020713;15247266;15371016;15489334;15710626;16344560;17081983;17233914;17284518;17507647;17899392;18661112;19056867;19369419;19798736;19864458;19946888;20106972;20329706;20489164;20961375;21115825;21139048;21890473;21906983;22284051;22456504;22863883;22939629;24019528;24250222;24816145;25015289;8619474;8889548;9110174;9253601;9397678 10938 B2R5U3;C9IZH1;C9J2Z4;C9JC03;C9JDQ8;C9JIJ3;Q9H4M9 ABBA01024139;ABBA01024140;ABBA01024141;AF001434;AF099011;AK096747;AK097842;AK098723;AK124613;AK126581;AK297654;AK299096;AK300326;AK302930;AK312316;AMYH02024945;AP001187;AX961798;AY007161;BC036898;BC104799;BC104825;BM677440;CH471076;DB093699;DC397966;DC399803;KF455404;NM_001282444;NM_001282445;NM_006795;XM_006718424 AAB81204;AAD45866;AAG02009;AAI04800;AAI04826;BAG35240;BAG53542;BAG60021;BAG61156;BAG62076;BAG64091;CAF06408;EAW74317;EAW74318;EAW74319;EAW74320;EAW74321;NP_001269373;NP_001269374;NP_006786;Q9H4M9;XP_006718487 Hs.523774;Hs.708818 1760171;1772365;1777492;1799090;1799638;1801688;1802002;1802214;1803628;1804326;1805220;1806924;1808214;1808574;1809210;1809752;1809996;1811192;1813512;1814324;1819364;1819496;1820036;1821572;1822068;1828584;1830422;1835836;1971668;1971670;1971672;1971674;1971676;1971678;1971680;1971682;1971684;1971686;1971688;1971690;1971692;1971694;1971696;1971698;1971700;1971702;1971704;1971706;1971708;1971710;1971712;1971714;1971716;1971718;1971720;1971722;1971724;1971726;1971728;1971730;1971732;1971734;1971736;1971738;1971740;1971742;1971744;1971746;1971748;1971750;1971752;1971754;1971756;1971758;1971760;1971762;1971764;1971766;1971768;1971770;1971772;1971774;1971776;1971778;1971780;1971782;1971784;1971786;1971788;1971790;1971792;1971794;1971796;1971798;1971800;1971802;1971804;1971806;1971808;1971810;1971812;1971814;1971816;1971818;1971820;1971822;1971824;1971826;1971828;1971830;1971832;1971834;1971836;1971838;1971840;1971842;1971844;1971846;1971848;1971850;1971852;1971854;1971856;1971858;1971860;1971862;1971864;1971866;1971868;1971870;1971872;1971874;1971876;1971878;1971880;1971882;1971884;1971886;1971888;1971890;1971892;1971894;1971896;1971898;2109277;2115253;2152983;2159475;2180127;5022651;5024761;5092704;5112844 A005R01;D11S2921;ECD00391;ECD00673;ECD01723;ECD01882;ECD01990;ECD02720;ECD03087;ECD03554;ECD04427;ECD05088;ECD05269;ECD05595;ECD05868;ECD05990;ECD06594;ECD07777;ECD08191;ECD10749;ECD10815;ECD11090;ECD11872;ECD12120;ECD15419;ECD16345;ECD19079;EHD1_9199;G32275;G33088;REN56718;REN56719;REN56720;REN56721;REN56722;REN56723;REN56724;REN56725;REN56726;REN56727;REN56728;REN56729;REN56730;REN56731;REN56732;REN56733;REN56734;REN56735;REN56736;REN56737;REN56738;REN56739;REN56740;REN56741;REN56742;REN56743;REN56744;REN56745;REN56746;REN56747;REN56748;REN56749;REN56750;REN56751;REN56752;REN56753;REN56754;REN56755;REN56756;REN56757;REN56758;REN56759;REN56760;REN56761;REN56762;REN56763;REN56764;REN56765;REN56766;REN56767;REN56768;REN56769;REN56770;REN56771;REN56772;REN56773;REN56774;REN56775;REN56776;REN56777;REN56778;REN56779;REN56780;REN56781;REN56782;REN56783;REN56784;REN56785;REN56786;REN56787;REN56788;REN56789;REN56790;REN56791;REN56792;REN56793;REN56794;REN56795;REN56796;REN56797;REN56798;REN56799;REN56800;REN56801;REN56802;REN56803;REN56804;REN56805;REN56806;REN56807;REN56808;REN56809;REN56810;REN56811;REN56812;REN56813;REN56814;REN56815;REN56816;REN56817;REN56818;REN56819;REN56820;REN56821;REN56822;REN56823;REN56824;REN56825;REN56826;REN56827;REN56828;REN56829;REN56830;REN56831;REN56832;REN56833;REN56834;RH36905;RH65431;SHGC-132442;SHGC-31898;STS-AA040336;STS-W49531 FLJ42622;FLJ44618;H-PAST;HPAST1;PAST;PAST1 EH domain-containing protein 1;OTTHUMP00000069746;OTTHUMP00000069747;OTTHUMP00000069748;OTTHUMP00000196087;PAST homolog 1;testilin APPROVED protein-coding ENSG00000110047 HGNC:3242 09325 605888 REVIEWED 1348695 EHD2 EH-domain containing 2 This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 45022299 45052093 + 48216601 48246391 + 47713344 47743134 + 1580863;6480464;6907045;8554872 10673336;12477932;14676205;14702039;15020713;15182197;15242332;15489334;16155252;16344560;17081983;17233914;17914359;18781797;19056867;20489164;21115825;21139048;21756249;21988832;22323287;22448906;22505029;22679923;22939629;23000965;23354948;24040268 30846 M0R1B9;Q9NZN4 ABBA01041055;AC008745;AC010519;AF181263;AF454952;AK026134;AK074701;AK097126;AK097228;AK293429;AK296907;AK298067;AK300512;AK315548;AMYH02036267;AMYH02036268;AMYH02036269;AX961790;BC014445;BG677716;CH471126;DA094880;DB260808;NM_014601 AAF40470;AAH14445;AAL51078;ABM83761;ABM87081;BAC11147;BAG37926;BAG53436;BAG56934;BAG59463;BAG60358;BAG62224;CAF06404;EAW57505;EAW57506;NP_055416;Q9NZN4 Hs.744963 1672058 WI-11704 FLJ96617;PAST2 EH domain containing 2;EH domain-containing protein 2;PAST homolog 2 APPROVED protein-coding ENSG00000024422 HGNC:3243 10434 605890 REVIEWED 1346639 EHD3 EH-domain containing 3 ENCODES a protein that exhibits ATP binding (inferred); calcium ion binding (inferred); GTP binding (inferred); INVOLVED IN endocytic recycling; protein homooligomerization; protein targeting to plasma membrane; PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN focal adhesion; recycling endosome membrane; cytoplasm (ortholog); INTERACTS WITH 3-methylcholanthrene; 4-phenylbutyric acid; 5-aza-2'-deoxycytidine 2 2 2 p21 31299596 31333966 + 31456880 31491260 + 31234014 31268394 + 1580863;6480464;6907045;8554872 10673336;11423532;12121420;12477932;12665801;15020713;15489334;16251358;16344560;17233914;17507647;19139087;19820697;20489164;21906983;22139419;22337703;22406195;22675492;24019528;24026423;24306026;24816145 30845 Q9NZN3 ABBA01074852;AF181264;AF214736;AK294222;AK316006;AL121657;AMYH02003524;AMYH02003525;BC033100;CH471053;DA196836;NM_014600 AAF32285;AAF40471;AAI56224;AAI56997;BAG57526;BAH14377;EAX00480;EAX00481;NP_055415;Q9NZN3 Hs.368808 1656285;1656287;1740121;1788686;1795750;2171683;5101755 D2S2137;EHD3_613;RH109431;RH11745;RH12575;RH142835;T03471 PAST3 EH domain containing 3;EH domain-containing protein 3;OTTHUMP00000125203;PAST homolog 3 protein-coding HGNC:3244 16170 605891 VALIDATED 734140 EHD4 EH-domain containing 4 ENCODES a protein that exhibits ATP binding (inferred); calcium ion binding (inferred); GTP binding (inferred); INVOLVED IN endocytic recycling; protein homooligomerization; PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; extracellular vesicular exosome; membrane; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 15 15 15 q11.1 18959279 19032401 - 42191638 42264755 - 41899440 41972557 - 1580863;6480464;6907045;8554872 10673336;11256614;11533061;12097419;12477932;15342556;15489334;15592455;17233914;17353931;18331452;19056867;19946888;20489164;21139048;21187387;21890473;21906983;21963094;21988832;22863883;22939629;23000965;23325686;24019528;24816145;8889548 30844 A8K9B9;Q9H223 ABBA01038383;ABBA01038384;ABBA01038385;AC039056;AF086163;AF181265;AF307137;AF323924;AF454953;AK024902;AK074621;AK292634;AMYH02030279;AMYH02030280;BC006287;BC051823;BC077716;BP314075;CF541306;CH471125;KC877537;NM_139265 AAF40472;AAG28784;AAH06287;AAH51823;AAK11599;AAL51079;ABM83671;ABM86944;BAF85323;EAW92525;EAW92526;NP_644670;Q9H223 Hs.143703 1681040;1732451;1736734;1736766;1756237;2111230;2111244;2124319 D15S1190;D15S485;D15S493;D15S514;D15S752;D15S769;RH98913;SHGC-143122 PAST4 EH domain containing 4;EH domain-containing protein 4;OTTHUMP00000160905;PAST homolog 4;hepatocellular carcinoma-associated protein 10/11;hepatocellular carcinoma-associated protein HCA11;ortholog of rat pincher;pincher protein-coding HGNC:3245 10435 605892 VALIDATED 1321091 EHF ets homologous factor This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 11 11 11 p12 34789745 34831979 + 34642588 34684835 + 34621041 34663288 + 1580863;6480464 10527851;10644770;10737800;11259407;12359648;12407165;12444029;12477932;12713734;15075319;15489334;15851553;16341674;16344560;16380452;16554811;17027647;17172423;17172821;17353931;17627613;17903297;17905856;18037958;18044710;18475289;18950845;21107309;21491078;21602797;21617703;21855111;21900206;22505649;23144326;23185370;23251661;23439650;23740937;24219556;8889548 26298 E9PN75;E9PPS9;E9PQR6;E9PQX0;Q9NZC4 ABBA01060864;AC087783;AF124438;AF124439;AF163685;AF170583;AF203977;AF212848;AK025244;AK309318;AK310867;AL157952;AL703839;AMYH02024587;AY882601;BC038995;BF754249;BM821693;BM834021;BM975808;BX486553;CB240726;CD722227;CH471064;DA460976;DB214606;NG_029177;NM_001206615;NM_001206616;NM_012153;XM_005252857;XM_005252858;XM_005252860;XM_005252861;XM_005252862;XM_006718176 AAD30990;AAD30991;AAF06998;AAF61670;AAG35644;AAH38995;AAW80658;ABZ92399;CAC12700;CAC12701;EAW68162;EAW68163;EAW68164;EAW68165;EAW68166;NP_001193544;NP_001193545;NP_036285;Q9NZC4;XP_005252914;XP_005252915;XP_005252917;XP_005252918;XP_005252919;XP_006718239 Hs.653859 1342097;2107031;2144239;2168246;7183802 D11S907;EHF__7574;RH48108;RH48285 ESE-3;ESE3;ESE3B;ESEJ;hEHF ESE3 transcription factor;ETS domain-containing transcription factor;OTTHUMP00000232936;OTTHUMP00000232937;OTTHUMP00000232938;OTTHUMP00000232939;OTTHUMP00000232943;epithelium-specific Ets transcription factor 3;epithelium-specific ets factor 3 APPROVED protein-coding HGNC:3246 16105 605439 REVIEWED 1349142 EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 3 3 3 q26.3-q28 183355409 183418245 - 184908412 184971886 - 185190624 185254098 - 1580863;6480464;6907045;8699517;7240710;8554872 10856712;12477932;1651711;16781659;18029348;18157088;18660489;19240061;19734545;20178365;20877624;21042317;22002062;24401050;2895531;8125298;8188243;9053548 1962 C9JJE0;Q08426;Q9NY65 ABBA01058425;ABBA01058426;ABBA01058427;ABBA01058428;AC007934;AJ427345;AK223460;AK291798;AK301521;AMYH02008320;AMYH02008321;BC011030;BC030982;BC038948;BC110460;CH471052;DC418722;L07077;NG_015999;NM_001166415;NM_001966;S50245;XM_006713525 AAA53289;AAB19482;AAH30982;AAH38948;AAI10461;BAD97180;BAF84487;BAG63025;CAD22483;EAW78228;EAW78229;EAW78230;NP_001159887;NP_001957;Q08426;XP_006713588 Hs.429879 1709354;2116728;2120060;2167692;2178729 D3S3916;D3S4215;SHGC-77625;SHGC-81682;STS-L07077 ECHD;FRTS3;L-PBE;LBFP;LBP;MGC120586;PBE;PBFE 3,2-trans-enoyl-CoA isomerase;L-3-hydroxyacyl-CoA dehydrogenase;L-bifunctional protein, peroxisomal;OTTHUMP00000210415;OTTHUMP00000210416;enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase;peroxisomal bifunctional enzyme;peroxisomal enoyl-CoA hydratase APPROVED protein-coding ENSG00000113790 HGNC:3247 06125 607037;615605 REVIEWED 6767176 EHHADH-AS1 EHHADH antisense RNA 1 3 3 q27.2 184880689 184909743 + 185162901 185191955 + 12477932 339926 ABBA01058428;ABBA01058429;AC007934;AL703608;AMYH02008320;BC047598;HG496449;HG496450;NR_038990 Hs.567848;Hs.638050 RP11-29A1.3 APPROVED ncrna ENSG00000223358 HGNC:44133 VALIDATED 1316868 EHMT1 euchromatic histone-lysine N-methyltransferase 1 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 9 9 9 q34.3 111130415 111256878 + 140513444 140730579 + 137618992 137836127 + 1580863;6480464;6907045;7240710;8554872;7242632;8699517 23200123 11347906;12004135;12168954;12477932;12700765;14702039;15489334;15805155;16147992;16501248;16537907;16702210;16826528;17403666;18264113;19010785;19061646;19124506;19128641;19264732;19505873;19531572;19596686;19843671;19850743;20084102;20118233;20211142;20360068;20379614;20453000;20562864;20588255;20800603;20945554;20960050;21041608;21131967;21204793;21258344;21538692;21549307;21890473;21906983;21963094;21987572;22083728;22086334;22505724;22659877;22726846;22801426;23000965;23232695;23275563;23541084;24250222;24389103;24457600;24649311;8889548 79813 Q9H9B1 AB028932;AB058779;ABBA01022779;ABBA01022780;ABBA01022781;ABBA01022782;ABBA01022783;ABBA01022784;ABBA01022785;ABBA01022786;ABBA01022787;AF461894;AK022941;AL365502;AL590627;AL611925;AL713772;AL832865;AMYH02021945;AMYH02021946;AMYH02021947;AMYH02021948;AMYH02021949;AY083210;BC011608;BC025772;BC047504;BM681619;BQ028833;CA426038;CH471090;NG_011776;NM_001145527;NM_024757;XM_005266105;XM_005266106;XM_005266107;XM_005266108;XM_005266109;XM_005266110;XM_005266111;XM_006717288;XM_006717289;XM_006717290;XR_245339;XR_428538;XR_428539 AAH11608;AAH25772;AAH47504;AAM09024;AAQ04808;BAB14321;BAB47505;BAB56104;CAD28534;EAW88409;EAW88410;EAW88411;EAW88412;EAW88413;NP_001138999;NP_079033;Q9H9B1;XP_005266162;XP_005266163;XP_005266164;XP_005266165;XP_005266166;XP_005266167;XP_005266168;XP_006717351;XP_006717352;XP_006717353 Hs.495511 1339570;1656077;1704442;1749791;1765975;2186019;5015959 D10S2448;D9S1838;RH11945;RH48863;SHGC-111534;SHGC-149365;SHGC-82935 DEL9q34;DKFZp667M072;EUHMTASE1;Eu-HMTase1;FLJ12879;FP13812;GLP;GLP1;KIAA1876;KMT1D;RP11-188C12.1;bA188C12.1 G9a like protein;G9a-like protein 1;H3-K9-HMTase 5;OTTHUMP00000022711;OTTHUMP00000022713;OTTHUMP00000212228;euchromatic histone methyltransferase 1;histone H3-K9 methyltransferase 5;histone-lysine N-methyltransferase EHMT1;histone-lysine N-methyltransferase, H3 lysine-9 specific 5;lysine N-methyltransferase 1D APPROVED protein-coding ENSG00000181090 HGNC:24650 07383 607001;610253 REVIEWED 7246233 EHMT1-IT1 EHMT1 intronic transcript 1 9 9 9 q34.3 111184499 111186249 + 140657474 140659224 + 137763022 137764772 + 12477932;14702039 643210 ABBA01022785;AK097611;AK127990;AL590627;AL611925;AMYH02021947;BC132855;BC132857;BX106199;NG_011776;NR_024341 BAC05120 Hs.721002 ncrna HGNC:48714 VALIDATED 1605700 EHMT2 euchromatic histone-lysine N-methyltransferase 2 This gene is located in a gene cluster within the human major histocompatibility complex class III region on chromosome 6. This gene was thought to be two different genes, NG36 and G9a, adjacent to each other but recent publications show that there is only a single gene at this locus. The encoded protein is a histone methyltransferase, which may be involved in repression of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 6 6 6 p21.31 33446117 33464048 - 31847536 31865464 - 31879759 31897707 - 6480464;6907045;7242632;9479074 23200123;23642229 11316813;11707778;12004135;12130538;12477932;12700765;14656967;14702039;14985713;15200951;15269344;15489334;15590646;16185068;16189514;16287849;16344560;16461774;16501248;16688220;16702210;16964243;17005678;17085482;17145766;17403666;17461779;17474147;17540172;17584299;17636019;17707230;17962312;17967884;18446223;18451879;18498648;18501190;18619962;18647749;18691967;18809684;18850007;19010785;19056828;19061646;19124506;19124609;19144645;19242095;19505873;19531572;19690169;19706462;19754958;19759913;19776757;19843671;19851445;19943104;20084102;20118233;20211142;20331966;20335163;20360068;20421388;20453000;20562864;20603076;20670891;20940408;20960050;21041608;21078624;21139048;21151833;21258344;21495674;21549307;21566081;21847359;21890473;21906983;21963094;21984853;22064703;22086334;22127260;22387026;22389001;22406531;22514736;22566634;22733990;22801367;23000965;23151507;23244065;23283977;23326239;23466651;23481705;23629948;23637228;23667531;23708667;23718855;23752268;23760081;23768491;23807219;23918802;24019522;24184908;24315373;24322755;24389103;24457600;24492005;24652950;2813433;8457211 10919 A2ABF8;A2ABF9;B7Z852;H0Y4K5;Q96KQ7 AB209433;ABBA01038091;ABBA01038092;ABBA01038093;AF134726;AJ315532;AK056936;AK092866;AK302904;AL662834;AL671762;AL844853;AMYH02013456;BA000025;BC002686;BC009351;BC018718;BC020970;BX005460;CH471081;CN397400;CR388202;CR388219;CR759784;CR936237;DA099526;DA106400;HY067184;NM_001289413;NM_006709;NM_025256;X69838;XM_005248824;XM_005272767;XM_005274833;XM_005274835;XM_005274913;XM_005275207;XM_005275209;XM_005275343;XM_005275345;XM_006714974;XM_006714975;XM_006714976;XM_006725028;XM_006725029;XM_006725467;XM_006725468;XM_006725469;XM_006725682;XM_006725683;XM_006725684;XM_006725892;XM_006725893;XM_006725981;XM_006725982 AAD21811;AAD21812;AAH02686;AAH09351;AAH18718;AAH20970;BAB63294;BAB63295;BAB71314;BAD92670;BAH13838;CAA49491;CAC86666;EAX03540;EAX03541;EAX03542;EAX03543;EAX03544;NP_001276342;NP_006700;NP_079532;Q96KQ7;XP_005248881;XP_005272824;XP_005274890;XP_005274892;XP_005274970;XP_005275264;XP_005275266;XP_005275400;XP_005275402;XP_006715037;XP_006715038;XP_006715039;XP_006725091;XP_006725092;XP_006725530;XP_006725531;XP_006725532;XP_006725745;XP_006725746;XP_006725747;XP_006725955;XP_006725956;XP_006726044;XP_006726045 Hs.709218 1739635;1848460;1856514;1856516;2115118;2134988;2189557;2191011;5014051;5015619;5020946;5021692;5037552 D11S3114;D15S948E;D6S2052;D8S2278;D8S2279;L17971;MARC_12895-12896:999881472:3;RH46780;RH70238;STS-X69838;UniSTS:237636;WI-19170;ksks210 BAT8;C6orf30;DKFZp686H08213;FLJ35547;G9A;GAT8;KMT1C;NG36 G9A histone methyltransferase;H3-K9-HMTase 3;HLA-B associated transcript 8;HLA-B-associated transcript 8;OTTHUMP00000029262;OTTHUMP00000029264;OTTHUMP00000174666;OTTHUMP00000174667;ankyrin repeat-containing protein;histone H3-K9 methyltransferase 3;histone-lysine N-methyltransferase EHMT2;histone-lysine N-methyltransferase, H3 lysine-9 specific 3;lysine N-methyltransferase 1C APPROVED protein-coding ENSG00000204371 HGNC:14129 06854 604599 REVIEWED 1320441 EI24 etoposide induced 2.4 This gene encodes a putative tumor suppressor and has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The encoded protein may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, 7, and 8. [provided by RefSeq, Feb 2014] 11 11 11 q24 122599610 122614886 + 125439298 125454575 + 125569402 125584680 + 1580863;6480464;6907045 10594026;10965130;11498783;11753653;12477932;17081983;17981155;19946888;21139048;21154811;21803008;21890473;24014029;24250222;24280371;24816145;24821838;8125298;9305847 9538 E9PK61;E9PL33;E9PLB8;E9PM05;E9PQN7;E9PS58;O14681 AB209820;ABBA01031240;ABBA01031241;AF010313;AK223029;AK291951;AK296620;AK301556;AK315841;AK316539;AMYH02025737;AP001494;BC002390;BC029333;BG566671;BM450796;BM467354;BQ936285;CH471065;DA680745;DB520736;DB567734;KF459674;NG_032933;NM_001007277;NM_001290135;NM_004879;NR_110769;NR_110770 AAC39531;AAH02390;ABM82287;ABM85467;BAD93057;BAF84640;BAF98732;BAG59228;BAG63052;BAH14910;EAW67641;EAW67642;NP_001007278;NP_001277064;NP_004870;O14681 Hs.643514 1666666;1778979;1782452;1856578;2140973;5093606;5096175;5123661 2002;A009S32;D11S2234E;G32817;RH18419;RH64693;SHGC-155484;STS-T46944 EPG4;PIG8;TP53I8 OTTHUMP00000231287;ectopic P-granules autophagy protein 4 homolog;etoposide induced 2.4 mRNA;etoposide-induced protein 2.4 homolog;p53-induced gene 8 protein;tumor protein p53 inducible protein 8 APPROVED protein-coding ENSG00000149547 HGNC:13276 05526 605170 REVIEWED 7175183 EI24P1 etoposide induced 2.4 pseudogene 1 3 3 3 q26.32 174187985 174188990 - 175785824 175786688 - 176068036 176068900 - 100129423 ABBA01058605;AC104640;AMYH02008186;NG_030107 pseudo HGNC:44586 INFERRED 7175199 EI24P2 etoposide induced 2.4 pseudogene 2 1 1 1 q23.1 131495032 131496104 + 158423988 158425060 + 158454198 158455270 + 100129866 ABBA01016628;AL365440;AMYH02002002;NG_022809 5123661 RH64693 pseudo HGNC:44587 INFERRED 7175253 EI24P3 etoposide induced 2.4 pseudogene 3 3 3 3 p21.31 44504259 44505320 - 44566236 44567297 - 44524744 44525805 - 100131881 ABBA01024741;AC099669;AMYH02006647;NG_022202 pseudo HGNC:44588 INFERRED 7175201 EI24P4 etoposide induced 2.4 pseudogene 4 7 7 7 139376017 139377100 + 144702155 144703238 + 145005062 145006145 + 100420072 ABBA01033549;AC073310;AMYH02016981;NG_026648 pseudo HGNC:44589 INFERRED 7175197 EI24P5 etoposide induced 2.4 pseudogene 5 8 8 54106906 54107935 + 53194346 53195375 + 100533660 ABBA01041714;AC009646;AMYH02017980;NG_028885 pseudo HGNC:44590 INFERRED 1348426 EID1 EP300 interacting inhibitor of differentiation 1 ENCODES a protein that exhibits histone acetyltransferase binding; histone acetyltransferase regulator activity; transcription corepressor activity (ortholog); INVOLVED IN cell differentiation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-templated; FOUND IN aggresome; nucleus; INTERACTS WITH arsenous acid; benzo[a]pyrene; bilirubin 15 15 15 q21.1 26063920 26066010 + 49170290 49172380 + 48878093 48880183 + 1580863;6480464 10828624;11073989;11073990;11223246;11964378;12477932;14963109;15044952;15806172;15837424;15949438;17559085;18557765;19276448;20486779;20516075;20639865;20972266;21139048;21163940;21364888;21890473;21900206;21906983;21963094;22053931;22186421;22505724;23000965;24167073;24250222;24379397;24722188;9660940 23741 H0YN68;Q9Y6B2 ABBA01039135;AC012379;AF092135;AF109873;AF274947;AF349444;AI360508;AK098383;AK315365;AL109701;AL357456;AMYH02030390;BC007944;BC024151;BC114944;BC114946;BI550673;CH471082;NM_014335 AAD40377;AAG35179;AAI14945;AAI14947;AAK07524;AAK29640;BAC05296;BAG37758;CAB52022;CAB93108;EAW77357;NP_055150;Q9Y6B2 Hs.255973 1665366;1672324;1687389;1856041;5014726 G27429;RH15715;RH66594;STS-N93791;STS-R92213 C15orf3;CRI1;EID-1;IRO45620;MGC138883;MGC138884;PNAS-22;PTD014;RBP21 21 kDa pRb-associated protein;CREBBP/EP300 inhibitor 1;CREBBP/EP300 inhibitory protein 1;E1A-like inhibitor of differentiation 1;EP300-interacting inhibitor of differentiation 1;NB4 apoptosis related protein;OTTHUMP00000231505;Rb- and p300-binding protein EID-1;retinoblastoma protein-associated protein protein-coding ENSG00000255302 HGNC:1191 06907 605894 VALIDATED 1351030 EID2 EP300 interacting inhibitor of differentiation 2 ENCODES a protein that exhibits SMAD binding; INVOLVED IN negative regulation of transcription, DNA-templated; negative regulation of transforming growth factor beta receptor signaling pathway; regulation of cell proliferation; FOUND IN nucleus; INTERACTS WITH atrazine; cadmium atom; cisplatin 19 19 19 q13.2 36831159 36832551 - 40029446 40030838 - 39538806 39540198 - 737633;1580863;6480464 12477932 12586827;14585496;14612439;15970276;18029348;21139048;21364888;24250222 163126 Q8N6I1 ABBA01040733;AC011500;AK128468;AMYH02036099;AY251272;BC030137;BC099899;CH471126;NM_153232 AAH30137;AAH99899;AAP12559;BAC87454;EAW56909;NP_694964;Q8N6I1 Hs.18949 1658208;1668730;1680827 RH91348;SHGC-37129;STS-N99910 CRI2;EID-2;MGC20452 CREBBP/EP300 inhibitor 2;CREBBP/EP300 inhibitory protein 2;E1A like inhibitor of differentiation 2;EID-1-like inhibitor of differentiation 2;EP300-interacting inhibitor of differentiation 2;OTTHUMP00000082707 protein-coding HGNC:28292 16754 609773 VALIDATED 1603273 EID2B EP300 interacting inhibitor of differentiation 2B INVOLVED IN cell differentiation (inferred); muscle organ development (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 19 19 19 q13.2 36823341 36825205 - 40021630 40023494 - 39530990 39532854 - 6480464 12477932;14702039;15970276;16169070;21364888;24250222 126272 Q96D98 ABBA01040733;AC011500;AK096263;AMYH02036098;BC009725;BC040157;BC051333;CH471126;NM_152361 AAH09725;BAC04743;EAW56908;NP_689574;Q96D98 Hs.135181 5117897 GDB:631813 EID-2B;EID-3;FLJ38944 EID-2-like inhibitor of differentiation 3;EID-2-like inhibitor of differentiation-3;EP300-interacting inhibitor of differentiation 2B protein-coding ENSG00000176401 HGNC:26796 08795 PROVISIONAL 1603793 EID3 EP300 interacting inhibitor of differentiation 3 ENCODES a protein that exhibits identical protein binding; INVOLVED IN DNA recombination (inferred); DNA repair (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN Smc5-Smc6 complex; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 12 12 12 q23.3 104361247 104362681 + 104697510 104698983 + 104303732 104305205 + 6480464 12477932;15752197;15970276;15987788;16189514;18086888;21364888;22797925;23940030 493861 Q8N140 ABBA01053197;AC090107;AK098698;AMYH02027096;BC027612;BI461575;CH471054;NG_029392;NM_001008394 AAH27612;BAC05385;EAW97747;NP_001008395;Q8N140 Hs.659857 1700570 RH103907 FLJ25832;NS4EB;NSE4B;NSMCE4B E1A-like inhibitor of differentiation 3;EID-1-like inhibitor of differentiation 3;EP300-interacting inhibitor of differentiation 3;OTTHUMP00000231506;non-SMC element 4 homolog B;non-structural maintenance of chromosomes element 4 homolog B protein-coding ENSG00000255150 HGNC:32961 17415 612986 VALIDATED 1342567 EIF1 eukaryotic translation initiation factor 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN dosage compensation by inactivation of X chromosome (inferred); regulation of translational initiation (inferred); translational initiation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-demecolcine; 1-fluoro-2,4-dinitrobenzene; 2,3,7,8-tetrachlorodibenzodioxine 17 17 17 q21.2 36498354 36501125 + 39845127 39847898 + 41688875 41691646 + 6480464 10208429;10228174;10347211;10754390;11073994;12477932;15489334;15592455;16169070;20921384;21139048;21832049;21890473;21900206;21906983;21963094;22053931;22505724;22813744;22939629;23000965;23293029;24250222;7904817;8889549 10209 K7EM18;K7EQP2;P41567;Q6IAV3 AA159721;ABBA01006459;AC130686;AF083441;AF100737;AJ012375;AK311209;AK311862;AL050005;AMYH02033411;BC005118;BC008710;BT006645;BU165055;CH471152;CR457051;L26247;NG_009090;NM_005801 AAA60602;AAD19900;AAD52028;AAH05118;AAH08710;AAP35291;ABM87699;ABW03855;BAG34803;CAD66615;CAG33332;EAW60754;EAW60755;NP_005792;P41567 Hs.150580 1694580;1734436;1735726;1739501;1845426;2110901;2115421;5024761 D17S1407E;D17S1704;D17S864E;D8S1344E;ECD23930;G43274;RH36905;WI-9294 A121;EIF-1;EIF1A;ISO1;SUI1 OTTHUMP00000164728;protein translation factor SUI1 homolog;sui1iso1 protein-coding HGNC:3249 15449 VALIDATED 1601944 EIF1AD eukaryotic translation initiation factor 1A domain containing ENCODES a protein that exhibits translation initiation factor activity (inferred); INVOLVED IN translational initiation (inferred); FOUND IN intermediate filament cytoskeleton; intracellular membrane-bounded organelle; nucleus; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; copper(2+) sulfate 11 11 11 q13.1 63088432 63093993 - 65764016 65769637 - 65996545 66002166 - 6480464 12477932;14702039;15342556;16189514;16344560;16751776;17207965;18173130;19322201;21139048;21890473;22095125;23000965 84285 E9PLI6;E9PNH5;E9PQD0;E9PS30;E9PS76;Q8N9N8 ABBA01024094;AI831454;AK094129;AK311891;AMYH02024967;AP006287;AW872373;BC005131;BE669813;BE791453;BG149615;BP328412;BU790195;CH471076;CS300548;DA024526;DQ600634;NM_001242481;NM_001242482;NM_001242483;NM_001242484;NM_001242485;NM_001242486;NM_032325 AAH05131;ADQ32823;BAC04293;BAG34832;CAK32212;EAW74478;EAW74479;EAW74480;EAW74481;EAW74482;NP_001229410;NP_001229411;NP_001229412;NP_001229413;NP_001229414;NP_001229415;NP_115701;Q8N9N8 Hs.425178 1678945;1679944;2146792;2163816;5015881;5022576 D1S1361;GDB:335751;RH16528;RH69702;RH93037;WIAF-1719 MGC11102 OTTHUMP00000234002;OTTHUMP00000234003;OTTHUMP00000234004;OTTHUMP00000234005;OTTHUMP00000234006;OTTHUMP00000234007;OTTHUMP00000234008;OTTHUMP00000234009;eukaryotic translation initiation factor 1A domain-containing protein;haponin;hypothetical protein mgc11102;probable RNA-binding protein EIF1AD protein-coding ENSG00000175376 HGNC:28147 14411 VALIDATED 6481282 EIF1AX-AS1 EIF1AX antisense RNA 1 p22.12 100874078 AI221979;AL732366;HG512458;NR_046592 Hs.603723 APPROVED ncrna HGNC:40208 VALIDATED 1351588 EIF1AX eukaryotic translation initiation factor 1A, X-linked This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq, Jul 2008] X X X p22.12 24266740 24284412 - 20142636 20159966 - 20124518 20141848 - 1580863;6480464 10678173;10982835;11447110;11699879;12426392;12477932;12514125;12569173;12588972;14660691;15489334;15772651;16710414;17784828;18029348;19322201;20060839;20098747;20434207;21832049;21890473;21906983;22505724;22863883;22939629;23000965;23293029;23793026;24250222;24816145;24970262;8106356;9381176 1964 P47813;X6RAC9 ABBA01071845;ABBA01071846;AK312320;AL079283;AL732366;AL832930;AMYH02038983;AMYH02038984;BC000793;BC047573;BC067851;BC110421;BM467724;BT007064;CH471074;L18960;NM_001412 AAA19812;AAH00793;AAH67851;AAP35727;ACE86655;ACE87337;BAG35242;EAW98972;EAW98973;NP_001403;P47813 Hs.522590 1666838;1676063;1682019;1791199;2133611;2133613;2153154;2179872;2187405;5024264 228D12_T7;A006C12;D1S3346;G20695;G34989;RH18177;RH38723;RH64553;SHGC-74291;WI-7823 EIF1A;EIF1AP1;EIF4C;eIF-1A;eIF-4C OTTHUMP00000024300;OTTHUMP00000024301;Putative eukaryotic translation initiation factor 1A;eIF-1A X isoform;eukaryotic translation initiation factor 1A, X chromosome;eukaryotic translation initiation factor 1A, X-chromosomal;eukaryotic translation initiation factor 4C APPROVED protein-coding ENSG00000173674 HGNC:3250 02174 300186 REVIEWED 1343052 EIF1AY eukaryotic translation initiation factor 1A, Y-linked This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Y Y Y q11.223 7444560 7461989 + 22737597 22755040 + 20575711 20593154 + 1580863;6480464 10747295;12477932;12569173;12815422;14660691;15064832;15252450;15342556;15489334;15613541;16713569;16936303;18029348;19605777;20031959;20823116;21139048;21145461;21890473;21906983;22158087;22365286;22505724;23000965;23602568;24319994;24816145;9381176 9086 A6NJH9;O14602 ABBA01057456;AC007678;AF000987;AK127664;BC005248;BF694967;BG499107;BP331805;BT007201;CH471208;DQ786267;NM_001278612;NM_004681 AAC51834;AAH05248;AAP35865;ABM84662;ABM92193;EAX11716;NP_001265541;NP_004672;O14602 Hs.461178 1684198;1754451;1795752;2113588;2118200;2135839;2188853;2190453;2190455;2190457;2190459;2190461;2190463;5017997;5022843;5095245;5095247;5095249;5095251;5116886 EIF1AY-2;EIF1AY-3;EIF1AY-4;EIF1AY-5;EIF1AY-6;EIF1AY-7;EIF1AY_323;G34991;G65860;M272;M273;M274_M275;M276_M267_M277;M292;M293_M294_M295_M296;RH38676;SHGC-132587;SHGC-36325;sY1233;sY690 eIF-4C OTTHUMP00000034700;OTTHUMP00000034701;eIF-1A Y isoform;eukaryotic translation initiation factor 1A, Y chromosome;eukaryotic translation initiation factor 1A, Y-chromosomal;eukaryotic translation initiation factor 4C APPROVED protein-coding ENSG00000198692 HGNC:3252 02455 400014 REVIEWED 1601885 EIF1B eukaryotic translation initiation factor 1B ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN translational initiation (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; cadmium atom 3 3 3 p22.1 40293858 40296600 + 40351173 40353915 + 40309682 40312424 + 6480464 10931946;12477932;15489334;17353931;19322201;21139048;21890473;21906983;21988832;22053931;22939629;23000965;23275563;7904817;8125298 10289 O60739;Q6FG85 AA521449;ABBA01024796;AC104186;AF064607;AF077052;AF263452;AK223448;AK311922;AMYH02006592;BC006996;BF667107;CA335728;CH471055;CR542223;NM_005875 AAC17112;AAD27785;AAF79182;AAH06996;BAD97168;BAG34863;CAG47019;EAW64598;EAW64599;NP_005866;O60739 Hs.315230 1797120;2112612;2133482;5017736;5491232 D3S4367;EIF1B;GC20;MARC_2151-2152:991932527:1;SHGC-76854 GC20 OTTHUMP00000162077;protein translation factor SUI1 homolog GC20;translation factor sui1 homolog protein-coding ENSG00000114784 HGNC:30792 17032 VALIDATED 7174986 EIF1B-AS1 EIF1B antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 3 3 3 p22.1 40156455 40293874 - 40214636 40351189 - 40173145 40309698 - 8554872 12477932;14702039 440952 ABBA01024796;ABBA01024797;AC099331;AC099557;AC104186;AC130439;AK057627;AK309874;AMYH02006591;AMYH02006592;BC031275;BC045736;BC106900;BC118565;NR_033965 Hs.660388 1677302;1725553;1760111;1855762;2117467;2148090;2166996 A002V02;A004V33;HSC05A092;RH119175;RH80389;SHGC-107747;WI-14688 ncrna HGNC:44555 VALIDATED 1347140 EIF1AXP1 eukaryotic translation initiation factor 1A, X-linked pseudogene 1 1 1 1 p36.13 1395 2460 - 17009586 17012744 - 16683091 16686249 - 10678173;12477932;15489334;15772651;16710414;21906983;8106356 280661 AC246792;AL021920;AL137798;NG_002419 1666838;1682019;1733164;2153154;2179872 D1S1469;D1S3346;RH38723;SHGC-74291;WI-7823 EIF1AP1 APPROVED pseudo HGNC:19900 INFERRED 7949642 EIF1P1 eukaryotic translation initiation factor 1 pseudogene 1 9 9 9 577027 577367 + 659986 660323 + 659986 660323 + 100505855 ABBA01065454;AL136979;AMYH02019026;NG_016331;NG_030090 pseudo HGNC:49614 INFERRED 7891339 EIF1P3 eukaryotic translation initiation factor 1 pseudogene 3 1 1 1 q25.3 155413660 155416581 + 182304993 182305649 + 182335858 182336514 + 730144 ABBA01027768;AL513480;AMYH02002269;NG_027543 pseudo HGNC:49616 INFERRED 7852917 EIF1P2 eukaryotic translation initiation factor 1 pseudogene 2 1 1 1 p34.3 37703728 37704378 - 39423950 39424597 - 38958278 38958925 - 100288425 ABBA01023231;AL606465;AMYH02000822;NG_030194 pseudo HGNC:49615 INFERRED 7959094 EIF1P4 eukaryotic translation initiation factor 1 pseudogene 4 16 16 16 p13.3 3072586 3072926 - 2872658 2872995 - 2822657 2822994 - 100130566 ABBA01026714;AC005361;AMYH02031274;NG_030244 pseudo HGNC:49617 INFERRED 6480985 EIF2AP1 eukaryotic translation initiation factor 2A pseudogene 1 7 7 150181147 150182232 - 150484059 150485144 - 100874393 ABBA01035185;AC073111;AMYH02017058;NG_032308 pseudo HGNC:39495 INFERRED 6480982 EIF2AP2 eukaryotic translation initiation factor 2A pseudogene 2 7 7 150300667 150301736 - 150603579 150604648 - 100874394 AC069304;AMYH02017059;NG_032309 pseudo HGNC:39496 INFERRED 6480987 EIF2AP3 eukaryotic translation initiation factor 2A pseudogene 3 7 7 150373921 150375006 - 150676833 150677918 - 100874395 ABBA01035178;AC069304;AMYH02017060;NG_032310 pseudo HGNC:39497 INFERRED 6480989 EIF2AP4 eukaryotic translation initiation factor 2A pseudogene 4 10 10 45301891 45303671 + 44806443 44808223 + 100874401 ABBA01050023;AL139119;AMYH02022726;NG_032311 pseudo HGNC:39498 INFERRED 1322904 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014] 15 15 15 q15.1 16989625 17091096 + 40226331 40327797 + 39934130 40035596 + 1580863;6480464;6907045;8699517;7240710;8554872 10504407;10718198;12215525;12477932;14671302;14702039;15489334;15761153;15892049;16121183;16601681;17081983;17192257;17202131;17276353;17620599;18287093;19029902;19586904;19615732;20168091;20473272;20551969;21076179;21113813;21139048;21203563;22301437;22327514;22435535;22896630;22969067;23110064;23129244;23216249;23354059;23417324;23908598;24019515;24113185;24135949;24256275;24292273;24310610;24827717 440275 H0YME5;H0YND8;H0YNY9;Q9P2K8 AB037759;ABBA01038464;ABBA01038465;ABBA01038466;ABBA01038467;AC012377;AC025168;AJ243428;AK027011;AK074361;AL137627;AL137676;AL157497;AL832907;AMYH02030230;AMYH02030231;AMYH02030232;AY418110;BC009350;BC014915;BC019914;BC061591;BC078179;BX640919;BX649048;CH471125;CN286138;NG_034053;NM_001013703;XM_005254392;XM_005254393 AAH09350;AAH78179;AAI46320;BAA92576;BAB15625;CAB58360;CAB70849;CAB75678;CAH10626;EAW92388;NP_001013725;Q9P2K8;XP_005254449;XP_005254450 Hs.656673 1341970;2119435;2130692;2145497 A004I33;D8S554;RH17797;STS-N75547 GCN2;KIAA1338;PVOD2 GCN2 eIF2alpha kinase;GCN2-like protein;eukaryotic translation initiation factor 2-alpha kinase 4;general control nonderepressible 2 APPROVED protein-coding ENSG00000128829 HGNC:19687 18447 234810;609280 REVIEWED 1354333 EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1 The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 7 7 7 p22 6637836 6674825 + 6061878 6098860 - 6022247 6059229 - 1580863;6480464;6907045 10542257;10718198;10931946;11036079;11076863;11101152;11230166;11256614;12391722;12477932;12690205;12767237;12853948;14702039;15489334;15489336;16381901;1677563;17081983;19133234;19851296;20071449;20198315;21139048;21906983;21963094;22939624;22990118;23357686;23392680;23874749;24147044;24250222;7709427;9819435 27102 B4DIP4;C9J7U7;F8WCM0;H7C033;Q9BQI3 AB037790;ABBA01029367;ABBA01029368;ABBA01029369;AC004895;AC005995;AF085994;AF100784;AF116634;AF147094;AF183414;AF255050;AK075192;AK290327;AK295712;AL136563;AL834494;AMYH02015164;AMYH02015165;BC006524;CH236963;CH878731;DC341983;NM_001134335;NM_014413 AAF66736;AAF70289;AAF71057;AAG09683;AAH06524;AAP97223;AAS00388;BAA92607;BAC11461;BAF83016;BAG58556;CAB66498;CAD39152;CAL37526;CAL38154;EAL23714;EAW55049;EAW55050;EAW55051;NP_001127807;NP_055228;Q9BQI3 Hs.520205 1646772;1712220;1722613;2117616;2145597;2159210;2164744 D7S2761;G54017;G60390;GDB:4585095;RH12212;SHGC-30897;SHGC-37403 HCR;HRI;KIAA1369 OTTHUMP00000115857;heme regulated initiation factor 2 alpha kinase;heme sensitive initiation factor 2a kinase;heme-controlled repressor;heme-regulated eukaryotic initiation factor eIF-2-alpha kinase;heme-regulated inhibitor;heme-regulated initiation factor 2-alpha kinase;heme-regulated repressor;hemin-sensitive initiation factor 2-alpha kinase APPROVED protein-coding ENSG00000086232 HGNC:24921 10684 613635 REVIEWED 1354090 EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (EIF2), leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Jan 2010] 2 2 2 p12 87859255 87930028 + 88856259 88927094 - 88556741 88627576 - 1601017;1580863;734923;6480464;6907045;7240710;8554872;8699517 10932183;15483661 10026192;10542257;10575235;10677345;10848580;11555640;11907036;12014989;12086964;12370288;12446770;12446838;12477932;12610133;14517290;15146197;15220213;15234121;15489334;15650164;16147992;16148948;16288713;16344560;16720581;1677563;17229688;17785458;17823375;18063576;18216498;18426796;18451152;18664456;18787411;19009018;19029953;19061639;19586904;19816510;19837917;19913121;19946888;20072656;20103619;20202148;20348950;20371724;20379614;20457808;20463975;20628086;20709135;20800603;20881960;21385877;21419175;21464971;21518408;21648287;21685912;21709020;22028037;22072062;22169477;22246806;22253692;22354021;22446326;22795130;22813743;22915762;22917505;22956602;23103912;23110043;23116876;23160380;23471998;23585173;23592989;23759358;23830192;24103755;24114838;24457600;24664756;8099443;9819435 9451 B3KY45;C9J185;E7ER02;Q9NZJ5 ABBA01018817;ABBA01018818;ABBA01018819;ABBA01018820;AC062029;AC104134;AF110146;AF193339;AF284604;AF284605;AF284606;AF284607;AF284608;AF284609;AF284610;AF284611;AF284612;AF284613;AF284614;AF284615;AI650734;AK128659;AK308312;AK315287;AMYH02004260;AMYH02004261;BC126354;BC126356;BQ014181;CH471215;CN285475;CR749382;DA990609;DB287944;NG_016424;NM_004836;XM_005264649 AAD19961;AAF61199;AAF91480;AAI26355;AAI26357;AAY14777;AAY24331;BAG37696;BAG54707;CAH18234;EAW77068;EAW77069;NP_004827;Q9NZJ5;XP_005264706 Hs.591589 1681111;1689187;1701262;1783992;2179073 D2S1994;RH104259;RH46266;RH91182;SHGC-142459 DKFZp781H1925;HRI;PEK;PERK;WRS;hsPEK OTTHUMP00000207186;OTTHUMP00000207187;OTTHUMP00000207188;PRKR-like endoplasmic reticulum kinase;eukaryotic translation initiation factor 2 alpha kinase 3;heme-regulated EIF2-alpha kinase;pancreatic EIF2-alpha kinase APPROVED protein-coding ENSG00000172071 HGNC:3255 04942 226980;604032 REVIEWED 733321 EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009] 12 12 12 q24.31 123702006 123714759 - 124105570 124118323 - 123621023 123633776 - 734924;1580863;6480464;7240710;8554872;8699517 11835386 10805739;10858531;11323413;12477932;12499492;12707859;14566705;14993275;15060152;15217090;15489334;15752756;15776425;16169070;16289705;16344560;17353931;18263758;18330844;18632786;1883206;19631657;19913121;20301435;20368287;20434207;20628086;21139048;21795329;21890473;21906983;24501781;24816145;7495858;8626696;8887689;9235896;9446619 1967 F5H0D0;H0YGG4;Q14232 ABBA01060396;ABBA01060397;AC117503;AI540796;AK294815;AL541292;AMYH02027458;BC103763;BC104188;BC104189;CH471054;CR456831;DA221985;DA879094;NG_015862;NM_001414;X95648 AAI03764;AAI04189;AAI04190;BAG57931;CAA64950;CAG33112;EAW98424;EAW98425;NP_001405;Q14232 Hs.741273 1673118;1694768;1722053;1736194;1797494;1851555;1851557;2118907 A006F32;D12S1138E;EIF2B1_615;G20768;G43592;G59913;STS-N26791;WI-12310 EIF-2B;EIF-2Balpha;EIF2B;EIF2BA;MGC117409;MGC125868;MGC125869 OTTHUMP00000239201;OTTHUMP00000239202;OTTHUMP00000239203;eIF-2B GDP-GTP exchange factor subunit alpha;translation initiation factor eIF-2B subunit alpha;translation initiation factor eif-2b alpha-subunit APPROVED protein-coding HGNC:3257 09458 603896;606686 REVIEWED 1605026 EIF2A eukaryotic translation initiation factor 2A, 65kDa EIF2A is a 65-kD protein that catalyzes the formation of puromycin-sensitive 80S preinitiation complexes (Zoll et al., 2002 [PubMed 12133843]).[supplied by OMIM, Mar 2008] 3 3 3 q25.1 148677477 148716838 + 150264465 150303803 + 150546787 150586016 + 6480464;6484113 12133843;12370288;12477932;12687390;14702039;15341733;15345721;15475356;15718232;15781241;15961545;1620067;16373505;16631606;16717090;16870703;16928686;17274640;17407708;17553788;17715234;17894550;18063576;18195013;18274552;18287093;18337511;18794359;18816594;19131336;19190324;19223463;19229320;19586904;19605483;19744687;19913121;20376341;20434207;20519500;20628086;20706999;21085474;21090173;21139048;21203563;21622569;21730287;21832049;21906983;21963094;22355666;22505724;22863883;22915583;22939629;22948139;23000965;23046979;23443559;23471998;23690448;24215632;24684861;24816145 83939 C9IZE1;F8WAE5;F8WAT3;F8WF18;H7C5Q3;H7C5Q4;H7C5R5;Q9BY44 ABBA01058925;ABBA01058926;AC107426;AF109358;AF172818;AF212241;AF497978;AI560242;AK027356;AK293993;AK298586;AL833101;AMYH02007889;BC011885;BX647951;CH471052;NM_032025 AAH11885;AAK14926;AAM83402;AAQ13506;AAQ13612;ABM87787;ABW03863;BAB55058;BAG57357;BAG60776;EAW78830;EAW78831;EAW78832;NP_114414;Q9BY44 Hs.655782 1665063;2116107;2132000;2150266;2161992;2169523;2170068;2217300;5092980 A009D27;EIF2a_2918;G32449;RH48541;SHGC-77450;STS-N73885;STS-T69826;WI-11937;WI-14136 CDA02;EIF-2A;MST089;MSTP004;MSTP089 65 kDa eukaryotic translation initiation factor 2A;OTTHUMP00000216446;OTTHUMP00000216447;OTTHUMP00000216448;OTTHUMP00000216449;eukaryotic translation initiation factor 2A APPROVED protein-coding HGNC:3254 11739 609234 VALIDATED 6481286 EIF2B5-AS1 EIF2B5 antisense RNA 1 q27.1 16344560 100874079 AC112643;DA918749 Hs.574899 APPROVED ncrna HGNC:40209 6481043 EIF2B5-IT1 EIF2B5 intronic transcript 1 (non-protein coding) 100874328 AC128714 ncrna HGNC:41330 1345835 EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 2 2 2 p22-p21 37174728 37225214 - 37332281 37384190 - 37105138 37157047 - 2301741;6480464;6484113;6907045;8554872 12675919 10320367;10330179;10348343;10390359;10400669;10400814;10542257;10557102;10620360;10648614;10684936;10723127;10747897;10848580;10866685;10884347;11123929;11152499;11238927;11278865;11337501;11350938;11438532;11438536;11438540;11447118;11468270;11526399;11555640;11773402;11836380;11921349;11985496;11991642;12051728;12055262;12060652;12138106;12231563;12349906;12368306;12368348;12396729;12397061;12447867;12473108;12477932;12483527;12539042;12609980;12665801;12679338;12882984;12944978;1351683;13678666;1373553;1373554;14638359;14698665;14765129;14961569;15121867;15122791;15207627;15229216;15299030;15489334;15535414;15596837;15607693;15625311;15635413;15737233;15815621;15880455;15907845;16009940;16156900;16216244;16271080;16288713;16339759;16373505;16446363;16466763;16580685;1677563;16785445;16861340;16861808;16924232;16954686;1695551;16957780;16989899;1708818;17202131;17284445;17290288;17307214;17318221;17353931;17420072;17451862;17522227;17541283;17596833;17597457;17612505;17686861;17716668;17785458;17851256;17928244;17928446;17959656;17975119;17977969;18023289;18048689;18063576;18087277;18362360;18426922;18496558;18599499;18684815;18684960;18728014;18835251;18927075;18936160;18957415;18976633;18991615;19004947;19023099;19028691;19106640;19109397;19151623;19189853;19210572;19229320;19259124;19322201;19349624;19353519;19364808;19416861;19434718;19445956;19507191;19515768;19605474;19605483;19642004;19651874;19710021;19733181;19744687;19776135;19812373;19840259;19846517;19846675;19946888;20006836;20006840;20171114;20181660;20309637;20331378;20353946;20395957;20447405;20485506;20587610;20588308;20628624;20685959;20930042;21029237;21048031;21072047;21123378;21123651;21139048;21145461;21294215;21338484;21377708;21385567;21464971;21468538;21504114;21526770;21698289;21710204;21715487;21790829;2180064;21846836;21882225;21890473;21903422;21906983;21907836;22022264;22102852;22174754;22190034;22278235;22281122;22306812;22381929;22473766;22647704;22787234;22801494;22894766;22896602;22912486;22939624;22939629;22948139;22986343;23064357;23084476;23115276;23115300;23148689;23151878;23221979;23229543;23302873;23314571;23320095;23370317;23372823;23376165;23399035;23455922;23527187;23682076;23706307;23853588;24020926;24089560;24163370;24334130;24347309;24463368;24623135;24684861;24778252;24786893;24797263;24816145;24992036;7491766;7568151;7686883;7686884;7738010;7757816;8099444;8576172;8601309;8812437;8887659;8889548;8921913;9079663;9135145;9143277;9214631;9447982;9528799;9687506;9721103;9726442;9735304;9736623;9781815;9819435 5610 B7ZKK7;C9JZT2;F8WBH4;P19525;Q8IW76 ABBA01074973;ABBA01074974;ABBA01074975;ABBA01074976;ABBA01074977;AC007899;AF086566;AF167472;AI360504;AK290655;AK313818;AMYH02003612;AMYH02003613;AMYH02003614;AY228338;AY302136;BC007769;BC022314;BC040851;BC057805;BC093676;BC101475;BC143228;BC143230;BM473760;BU687340;CH471053;F03305;M35663;M85294;NG_030351;NM_001135651;NM_001135652;NM_002759;U50648 AAA18253;AAA36409;AAC50768;AAF13156;AAH07769;AAH22314;AAH40851;AAH57805;AAH93676;AAI01476;AAI43231;AAO38055;AAP57628;AAY24317;BAF83344;BAG36554;EAX00406;EAX00407;EAX00408;EAX00409;NP_001129123;NP_001129124;NP_002750;P19525 Hs.131431 1664827;1691324;1699900;1789977;1794736;1798022;2141442;2173437;5015861;7185938 D10S16;PMC355900P1;PRKR_2017;RH103558;RH69133;RH93202;SGC31475;STS-U50648;csnpprkr-pcr12-1 EIF2AK1;MGC126524;PKR;PPP1R83;PRKR OTTHUMP00000126954;OTTHUMP00000201320;P1/eIF-2A protein kinase;double stranded RNA activated protein kinase;eIF-2A protein kinase 2;interferon-induced, double-stranded RNA-activated protein kinase;interferon-inducible RNA-dependent protein kinase;interferon-inducible elF2alpha kinase;p68 kinase;protein kinase RNA-activated;protein kinase, interferon-inducible double stranded RNA dependent;tyrosine-protein kinase EIF2AK2 APPROVED protein-coding ENSG00000055332 HGNC:9437 01468 176871 REVIEWED 735608 EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010] 14 14 14 q23.3 47886088 47912287 + 67827034 67853233 + 67360317 67386516 + 728211;1580863;6480464;6907045;8554872 2948954 10432301;10504407;10542257;10620360;10648795;10734073;1104615;11323413;11331597;11500362;11555640;11739746;11859078;11985496;12186496;12370288;12447867;12477932;12499843;12514125;12556489;12588972;12601012;12686399;12687390;1400363;14747531;15060162;15207627;15330758;15341733;15476887;15489334;15635413;15650164;16210351;16216881;16288713;16289705;16289913;16418533;16500424;16720581;1677563;16982605;17113348;17210633;17274640;17290288;17353931;17361185;17393484;1748310;17488873;17894550;18082745;18234281;18423202;18457437;18604219;18639529;18664456;18781797;1883206;19009018;19017641;19188486;19189853;19244104;19322201;19364808;19369421;19470760;19559055;19733181;19738201;19754954;19800319;19846675;19946888;20154146;20361218;20428777;20457808;20467438;20521618;20660158;21139048;21145461;2116318;21385877;21556050;21575865;21699776;21715487;21787283;21853274;21890473;21906983;21907836;21963094;21987572;22053000;22053931;22102852;22113938;22145905;22306812;22623428;22652449;22678362;22705549;22833567;22863883;22939629;23000965;23293029;23402259;23405127;23707440;23741361;24204783;24250222;24332808;24457600;24609900;24816145;25027693;7821789;8098621;8099443;8099444;8645159;8887689;9079663;9442054;9446619;9819435 1965 G3V4T5;H0YJS4;P05198;Q53XC0 ABBA01023713;AK297244;AK312442;AL139785;AMYH02029399;BC002513;BX161521;CH471061;D28379;J02645;NM_004094;U26032 AAA52373;AAH02513;ABM83077;ABM86273;BAA05745;BAG35351;BAG59724;CAD61953;EAW80933;EAW80934;NP_004085;P05198 Hs.151777 1668637;1690396;1744205;1851903;2133001;2153031;2160134 D14S1214;D14S1305;GDB:437525;HUM0C12G05;RH68960;RH91349;WI-19765 EIF-2;EIF-2A;EIF-2alpha;EIF2;EIF2A OTTHUMP00000028404;OTTHUMP00000218025;OTTHUMP00000245572;OTTHUMP00000245573;eIF-2-alpha;eukaryotic translation initiation factor 2 subunit 1;eukaryotic translation initiation factor 2 subunit alpha;eukaryotic translation initiation factor 2, subunit 1 (alpha ) APPROVED protein-coding ENSG00000134001 HGNC:3265 04881 603907 VALIDATED 1322883 EIF2D eukaryotic translation initiation factor 2D This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to localize to the cytoplasm and localize and function with translation factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 1 1 1 q32.1 180016423 180037351 - 206764974 206785904 - 206591642 206612551 - 1580863;6480464;8554872 12097419;12477932;14702039;15302935;17353931;20566627;21145461;22939629;23277564;24250222;24816145;2482295;7085778;7299841;8125298 1939 P41214;Q5SY38 AB209364;ABBA01010191;AC244034;AF159586;AF220417;AF262403;AK001852;AK225259;AK294536;AL162001;AL591846;BC001585;BC039134;BC058905;BI465059;CH471100;DC399556;NM_001201478;NM_006893;XM_005277509;XM_006711196 AAD41909;AAF34185;AAF74205;AAH01585;AAH39134;AAH58905;ABM82516;ABM85710;BAA91942;BAD92601;BAG57743;CAB82330;EAW93536;EAW93537;EAW93538;EAW93539;EAW93540;NP_001188407;NP_008824;P41214;XP_005277566;XP_006711259 Hs.497581 1709968;5022578;5112325;5123016 D1S1423;RH103413;SHGC-76248;SHGC-82252 HCA56;LGTN Hepatocellular carcinoma-associated antigen 56;OTTHUMP00000034537;OTTHUMP00000034538;ligatin APPROVED protein-coding ENSG00000143486 HGNC:6583 01057 151625;613709 REVIEWED 733707 EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 27433890 27439990 - 27587219 27593324 - 27364352 27370457 - 632563;734924;1580863;6480464;7240710;8554872;8699517 11835386;8929216 10805739;10858531;10931946;11323413;12477932;12499492;12556349;12707859;14566705;15054402;15060152;15217090;15489334;15507143;16288713;16289705;18005052;18061208;18160716;18263758;18330844;18539998;18632786;19158808;19460752;20016818;20301435;20434207;20532202;20709751;20734064;21139048;21503715;21560189;21890473;21906983;22505724;22737209;22939629;23000965;23382691;24501781;24778252;24816145;7982969;8626696;8887689;9446619 8890 E7ERK9;F8W8L6;F8WEV6;H7C2L8;Q9UI10 AB209532;ABBA01045203;AC074117;AF057699;AF086520;AF112207;AF218009;AJ011305;AJ011306;AJ011307;AK300734;AL050109;AMYH02003476;BC001870;BC091502;CH471053;JQ991007;NG_009305;NM_001034116;NM_015636;NM_172195;XM_005264632;XM_006712132 AAF17195;AAG17251;AAH01870;AAH91502;AAQ13438;AAY14843;AFM43698;BAD92769;BAG62407;CAB43277;CAB57260;CAB57261;CAB57304;CAB57305;EAX00587;EAX00588;EAX00589;EAX00590;EAX00591;EAX00592;NP_001029288;NP_056451;NP_751945;Q9UI10;XP_005264689;XP_006712195 Hs.169474 1778471;2110125;2110127;2110129;2110131;2110133;2110135;2110137;2110139;2110141;2110143;2110145;2110147;2110149;2110151;2110155 RSA000499813;RSA000499820;RSA000762160;RSA000987699;RSA000987702;RSA000987708;RSA000987715;RSA000987719;RSA000999044;RSA001081057;RSA001259893;RSA001334633;RSA001337772;RSA001357115;RSA001364720;WI-12589 DKFZp586J0119;EIF-2B;EIF2B;EIF2Bdelta OTTHUMP00000200797;OTTHUMP00000200800;OTTHUMP00000225846;OTTHUMP00000225847;eIF-2B GDP-GTP exchange factor subunit delta;eukaryotic translation initiation factor 2B subunit 4 delta;eukaryotic translation initiation factor 2b;translation initiation factor eIF-2B subunit delta;translation initiation factor eIF-2b delta subunit APPROVED protein-coding ENSG00000115211 HGNC:3260 09459 603896;606687 REVIEWED 731256 EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011] 14 14 14 q24.3 55507321 55513985 + 75469612 75476294 + 75002909 75009591 + 734925;1580863;6480464;7240710;8554872;8699517 11704758 10805739;10858531;11323413;11959995;12477932;12499492;12508121;12707859;14566705;14993275;15054402;15060152;15217090;15489334;15507143;15776425;16169070;16225457;16289705;17878805;18029348;18263758;18632786;19913121;20301435;20434207;20628086;20734064;21139048;21795329;21832049;21890473;21988832;22053931;22285377;22729508;22863883;22939629;23000965;23956138;24501781;24654937;24816145;7596406;8619474;8626696;8887689;9110174;9446619 8892 G3V5E5;H0YJJ8;H0YK01;P49770;Q53XC2 ABBA01030708;AC006530;AF035280;AI265790;AL049780;AMYH02029527;AMYH02029528;BC000494;BC003165;BC011750;BI908906;BX161473;CH471061;L40395;NG_013333;NM_014239 AAB88176;AAC42002;AAD30183;AAH00494;AAH03165;AAH11750;ABM82290;ABM85470;CAD61929;EAW81210;NP_055054;P49770 Hs.409137 1657348;1712216;2174318;2217292 EIF2B2_3126;G54015;RH46952;RH69052 EIF-2Bbeta;EIF2B;S20I15;S20III15 OTTHUMP00000246789;eIF-2B GDP-GTP exchange factor subunit beta;eukaryotic translation initiation factor 2b, subunit 2 (beta, 39kd);translation initiation factor eIF-2B subunit beta APPROVED protein-coding HGNC:3258 05923 603896;606454 REVIEWED 1343864 EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. [provided by RefSeq, Jul 2008] 20 20 20 q11.2 29428928 29452894 - 32676115 32700085 - 34088309 34112279 - 1580863;6480464 10620360;10648795;10805737;10805739;1104615;11092890;11739746;11780052;11959995;12477932;12588972;12901717;15489334;15635413;16169070;16288713;16289705;16932749;17081983;18423202;18639529;18781797;18850631;20000738;20434207;20972266;21139048;21145461;21832049;21890473;21906983;21907836;22113938;22174317;22678362;22813744;22863883;22939629;22976474;22990118;23000965;24250222;24332808;24457600;24816145;25027693;3044606;8024572;9079663;9395514;9442054;9446619;9933616 8894 P20042;Q6IBR8 AB208966;AB451237;AB451362;ABBA01019211;ABBA01019212;AF076927;AK313025;AL031668;AMYH02036965;AMYH02036966;BC000461;BC000934;BC007888;BC070316;BC107588;BT009795;BX648379;CH471077;CR456734;M29536;NM_003908;XM_005260605 AAA52383;AAD19864;AAH00461;AAH00934;AAH07888;AAI07589;AAP88797;ABM81931;ABM85110;BAD92203;BAG35860;BAG70051;BAG70176;CAG33015;EAW76284;EAW76285;EAW76286;NP_003899;P20042;XP_005260662 Hs.429180 1646666;1647933;1773598;1777108;1778569;2134770;2140602;2164392;2217298;5016721;5097047 D20S1129;D20S573E;D20S773;EIF2S2_2748;G62049;RH11633;RH12277;RH35846;RH36346;RH47979;SHGC-12418 DKFZp686L18198;EIF2;EIF2B;EIF2beta;MGC8508;PPP1R67;eIF-2-beta OTTHUMP00000030680;eukaryotic initiation factor 2-beta;eukaryotic translation initiation factor 2 beta;eukaryotic translation initiation factor 2 subunit 2;eukaryotic translation initiation factor 2 subunit beta;protein phosphatase 1, regulatory subunit 67 APPROVED protein-coding ENSG00000125977 HGNC:3266 04882 603908 REVIEWED 1343874 EIF2S2P2 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 2 3 3 3 q27.2 183409316 183410717 - 184962954 184964355 - 185245166 185246567 - 347673 ABBA01058425;AC007934;AC128680;AMYH02008321;NG_002696;NG_015999 bcm2636 APPROVED pseudo HGNC:24654 VALIDATED 732190 EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 1 1 1 p34.1 43598935 43735148 - 45316194 45452394 - 44850522 44986722 - 734924;1580863;6480464;7240710;8554872;8699517 11835386 10737800;10805739;10858531;10900014;11076863;11230166;11323413;12477932;12499492;12707859;14702039;15054402;15060152;15217090;15489334;15489336;16169070;16288713;16289705;16344560;16381901;16710414;17353931;18263758;18632786;20301435;20379614;21139048;21484434;21890473;21906983;21963094;21987572;22268729;22312164;22863883;22939629;23000965;23956138;24501781;24816145;8626696;8889549 8891 H0Y580;Q5QP88;Q9HA31;Q9NR50 ABBA01050896;ABBA01050897;ABBA01050898;ABBA01050899;ABBA01050900;ABBA01050901;ABBA01050902;ABBA01050903;ABBA01050904;ABBA01050905;AF257077;AK022399;AK024006;AK314668;AL136380;AL834288;AMYH02000919;AMYH02000920;AMYH02000921;AW972575;BC014234;BC018728;BC021017;BF879213;BQ776018;CH471059;CR457285;CX781577;DA141801;DA162797;NG_015864;NM_001166588;NM_001261418;NM_020365;W21485 AAF91351;AAH18728;BAB14027;BAB14770;BAG37225;CAD38962;CAG33566;CAL38485;CAL38657;EAX07011;EAX07012;EAX07013;EAX07014;EAX07015;EAX07016;NP_001160060;NP_001248347;NP_065098;Q9NR50 Hs.533549 1654620;1672390;1749819;2186005;5023434 AL009463;D1S2546;SHGC-111559;SHGC-57832;SHGC-74692 EIF-2B;EIF2Bgamma OTTHUMP00000010262;OTTHUMP00000010263;OTTHUMP00000010265;eIF-2B GDP-GTP exchange factor subunit gamma;eukaryotic translation initiation factor 2b, subunit 3 (gamma, 58kd);translation initiation factor eIF-2B subunit gamma APPROVED protein-coding ENSG00000070785 HGNC:3259 09379 603896;606273 REVIEWED 3231911 EIF2S2P6 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 6 11 11 11 q14.1 79849185 79858154 + 82539313 82548284 + 82828271 82837242 + 100129629 ABBA01017369;AP001646;NG_022982 2157741;2181662 D11S2617;D11S4568 pseudo HGNC:37794 INFERRED 1349546 EIF2S2P1 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 1 14 14 14 q23.2 44252054 44253598 + 64201393 64202937 + 63734675 63736219 + 319115 ABBA01018335;AL161670;AMYH02029342;NG_002496 2134770 RH35846 EIF2S2P APPROVED pseudo HGNC:20009 INFERRED 1352428 EIF2S2P3 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 3 10 10 10 q23.33 88169725 88171116 - 94428208 94429599 - 92668451 92669842 - 283014;414262 ABBA01021895;AL590080;AMYH02023542;NG_005657 APPROVED pseudo HGNC:31664 INFERRED 731553 EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009] 3 3 3 q27.1 182295251 182305538 + 183852810 183863099 + 184135022 184145311 + 734925;1580863;6480464;7240710;8554872;8699517 11704758 10441579;10805739;10858531;11323413;11500362;12133000;12325082;12477932;12499492;12707859;14566705;14572143;14702039;14993275;15054402;15060152;15217090;15302935;15489334;15507143;15723074;16041584;16097034;16289705;16730941;17081983;17353931;17439913;17646634;18263758;18294360;18562513;18565837;18632786;18854154;19913121;20301435;20628086;20734064;20975056;21204011;21307862;21503715;21832049;21890473;21906983;22472876;22939629;23956138;24501781;24816145;24980014;8626696;8688466;9446619;9468292 8893 C9JRD9;E9PC74;H7C2X0;Q13144 AB208821;ABBA01058458;ABBA01058459;AC131235;AK056400;AK091646;AK307347;AK310207;AL832179;AMYH02008301;BC013590;BC050476;BC053646;BI769147;CH471052;NG_015826;NM_003907;U23028 AAC50646;AAH13590;ABM82409;ABM85596;BAC03712;BAD92058;EAW78298;EAW78299;EAW78300;EAW78301;EAW78302;NP_003898;Q13144 Hs.283551 1338534;1340035;1649895;2148772;2217294 D3S3592;D3S3730;EIF2B5_2938;RH12776;STS-U23028 CACH;CLE;EIF-2B;EIF2Bepsilon;LVWM OTTHUMP00000210774;OTTHUMP00000210847;eIF-2B GDP-GTP exchange factor subunit epsilon;initiation factor eif-2be;translation initiation factor eIF-2B subunit epsilon APPROVED protein-coding ENSG00000145191 HGNC:3261 04898 603896;603945 REVIEWED 4108858 EIF2S2P5 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 5 1 1 1 p13.1 113239966 113241492 + 115010740 115012266 + 114468118 114469644 + 347675 ABBA01068463;AL390241;AMYH02001782;NG_002698;NG_023287 pseudo HGNC:37793 INFERRED 2881249 EIF2S2P7 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 7 2 2 2 p16.1 57115897 57116881 - 57275487 57276471 - 57048352 57049336 - 647016 ABBA01075290;AC010738;AMYH02003875;NG_021500 pseudo HGNC:37795 INFERRED 2800935 EIF2S2P4 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 4 2 2 2 q31.1 165224913 165226282 + 171608219 171609588 + 170751709 170753078 + 728350 ABBA01014917;AC007405;AMYH02005208;CH471058;NG_005660 EAX11237 pseudo HGNC:37626 INFERRED 1319125 EIF3B eukaryotic translation initiation factor 3, subunit B ENCODES a protein that exhibits translation initiation factor activity; INVOLVED IN regulation of translational initiation; translational initiation; ASSOCIATED WITH Melanoma (inferred); FOUND IN eukaryotic translation initiation factor 3 complex; extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2-methylcholine 7 7 7 p22.3 2363928 2389774 + 2394474 2420380 + 2354839 2380745 + 1580863;6480464;8554872 11169732;11331597;12477932;12588972;12690205;14519125;14688252;14702039;15047060;15302935;15489334;15592455;15946946;16159877;16196087;16286006;16541103;17053147;17081983;17190833;17322308;17403899;17581632;18423201;18423202;18457437;18599441;18628297;18781797;19245811;19454010;19615732;19738201;20020773;20060839;20360068;20508642;20862284;20972266;21045808;21081666;21139048;21890473;21906983;21963094;21987572;22145905;22190034;22234522;22268729;22505724;22623428;22863883;22939629;22990118;23000965;23125841;23184937;23398456;23455922;23463506;23575475;24063684;24457600;24816145;25027693;7693677;8889548;8995409;8995410;9388245;9822659;9847074 8662 C9JQN7;C9JZG1;P55884 AB209381;ABBA01039371;AC004840;AC004971;AI888128;AK093807;AK126670;AK300967;AK302058;AMYH02015067;AMYH02015068;BC001173;BC009986;BC110865;BG325094;BM556863;BQ015102;BQ045103;BQ070291;CH236953;CH471144;NM_001037283;NM_003751;U62583;U78525 AAB42010;AAC99479;AAH01173;AAH09986;AAI10866;AAP21880;BAD92618;BAG62591;BAG63448;EAL23951;EAL23952;EAW87237;EAW87238;EAW87239;EAW87240;EAW87241;NP_001032360;NP_003742;P55884 Hs.371001 1647552;1663073;1698058;1757733;1758553;1851480;2141181;2165879;5022651;5109663 A005U22;D11S2921;D7S2067E;GDB:1318627;RH102561;RH18310;RH78609;SHGC-146399;SHGC-148746;STS-N23233 EIF3-ETA;EIF3-P110;EIF3-P116;EIF3S9;MGC104664;MGC131875;PRT1;eIF-3-eta;eIF3 p110;eIF3 p116;hPrt1 OTTHUMP00000024457;OTTHUMP00000115601;eukaryotic translation initiation factor 3 subunit 9;eukaryotic translation initiation factor 3 subunit B;eukaryotic translation initiation factor 3, subunit 9 (eta, 116kD);eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa;prt1 homolog protein-coding ENSG00000106263 HGNC:3280 06795 603917 VALIDATED 1626547 EIF3CL eukaryotic translation initiation factor 3, subunit C-like ENCODES a protein that exhibits translation initiation factor activity (inferred); translation initiation factor binding (inferred); INVOLVED IN formation of translation preinitiation complex (inferred); regulation of translational initiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN eukaryotic 43S preinitiation complex (inferred); eukaryotic 48S preinitiation complex (inferred); eukaryotic translation initiation factor 3 complex (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 16 16 16 p11.2 28059153 28083429 - 28390900 28415162 - 28379579 28403841 - 6480464;8554872 10493829;10504338;12477932;12588972;14519125;14702039;15302935;15489334;15703437;16083285;16097034;16286006;16322461;16766523;16964243;17081983;17287340;17322308;17468741;17581632;18187866;18599441;18669648;20360068;20972266;21145461;21890473;21906983;21963094;21987572;22505724;22863883;23000965;23463506;23862649;24816145;8995409 728689 B5ME19 ABBA01015960;AC138894;AMYH02031778;AMYH02031779;AMYH02031780;AMYH02031781;AMYH02031782;AMYH02031783;AMYH02031784;NM_001099661;XM_005255535 B5ME19;NP_001093131;XP_005255592 Hs.535464 1736558;1738647;1738823;2145041 D16S2553E;D16S2774;D16S2882;SGC31754 eIF3 p110;eIF3c OTTHUMP00000122518;eukaryotic translation initiation factor 3 subunit 8;eukaryotic translation initiation factor 3 subunit C;eukaryotic translation initiation factor 3 subunit C-like protein;eukaryotic translation initiation factor 3, subunit 8, 110kDa-like protein-coding ENSG00000205609 HGNC:26347 PROVISIONAL 1346365 EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by RefSeq, Jan 2010] X X X p22.2-p22.1 28196181 28220053 + 24073065 24096927 + 24054948 24078810 + 1580863;6480464 10620360;10648795;10900014;1104615;12477932;12588972;12665801;15489334;15635413;15669143;16196087;16201836;16288713;16289705;16712791;17220478;17353931;18781797;19322201;19723899;19738201;20020773;20434207;21110914;21139048;21145461;21252943;21319273;21693764;21853274;21890473;21906983;21907836;21963094;21987572;22145905;22174317;22505724;22797925;22863883;22939629;22952844;23000965;23063529;23166591;23602568;24457600;24816145;8098621;8106381;8125298;9079663;9736774 1968 H7BZU1;P41091 AB451230;AB451353;ABBA01072278;ABBA01072279;ABBA01072280;ABBA01072281;AC079169;AF274932;AI133612;AJ006932;AK222577;AK290397;AK312247;AMYH02039041;AMYH02039042;BC011945;BC019906;BF435665;CB150474;CH471074;L19161;NG_016387;NM_001415 AAA19696;AAH19906;ABM82720;ABM85903;BAD96297;BAF83086;BAG35179;BAG70044;BAG70167;CAA07331;EAW99010;EAW99011;EAW99012;NP_001406;P41091 Hs.539684 1851872;2128829;2170408;2218530;5017170;5019823;5037552;5106106;5109362 A009Y29;D12S1830;D17S1239;D8S2279;EIF2S3;EIF2S3_1860;G32988;L29953;RH17627 EIF2;EIF2G;EIF2gamma;eIF-2gA OTTHUMP00000023076;eIF-2-gamma X;eIF-2gX;eukaryotic translation initiation factor 2 subunit 3;eukaryotic translation initiation factor 2 subunit gamma X;eukaryotic translation initiation factor 2G APPROVED protein-coding HGNC:3267 02155 300161 REVIEWED 1352969 EIF3D eukaryotic translation initiation factor 3, subunit D Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 20709038 20727412 - 36906897 36925277 - 36510850 36529230 - 1580863;6480464 10591208;11331597;11369516;11590142;12477932;12588972;14519125;15047060;15461802;15489334;15592455;17322308;17353931;17361185;17403899;17474147;17581632;18571626;18599441;18628297;19615732;19738201;19946888;20171186;20360068;20890303;21139048;21145461;21890473;21900206;21906983;21963094;22145905;22190034;22505724;22586326;22863883;22939629;22944692;23000965;23125841;24092755;24457600;24816145;25027693;8995409;8995410;9341143;9822659 8664 B0QYA4;B0QYA5;B0QYA6;B0QYA7;B0QYA8;O15371 ABBA01055447;AK300199;AK301284;AK303884;AK312939;AL022313;AMYH02038324;AW575097;BC000328;BC000469;BC014912;BC080515;BC093100;BC093686;BC101477;BG718662;BT007381;CH471095;CR456489;NM_003753;U54558 AAD03466;AAH00328;AAH00469;AAH14912;AAH80515;AAH93100;AAH93686;AAI01478;AAP36045;ABM82055;ABM85234;BAG35781;BAG61970;BAG62843;BAG64820;CAG30375;CAK54480;CAK54779;EAW60109;EAW60110;NP_003744;O15371 Hs.55682 1666775;1716311;1748477;5023256;5126444;5491453 A002O22;MARC_13472-13473:1002304233:5;RH121185;SGC31879;SHGC-24001;SHGC-32716 EIF3S7;MGC126526;MGC17258;eIF3-p66;eIF3-zeta EIF3D {ECO:0000255|HAMAP-Rule:MF_03003};OTTHUMP00000197900;OTTHUMP00000197901;eIF-3-zeta;eIF-3-zeta {ECO:0000255|HAMAP-Rule:MF_03003};eIF3 p66;eukaryotic translation initiation factor 3 subunit 7;eukaryotic translation initiation factor 3 subunit 7 {ECO:0000255|HAMAP-Rule:MF_03003};eukaryotic translation initiation factor 3 subunit D;eukaryotic translation initiation factor 3 subunit D {ECO:0000255|HAMAP-Rule:MF_03003};eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa;translation initiation factor eIF3 p66 subunit APPROVED protein-coding ENSG00000100353 HGNC:3278 04888 603915 REVIEWED 1316362 EIF3A eukaryotic translation initiation factor 3, subunit A ENCODES a protein that exhibits poly(A) RNA binding; translation initiation factor activity; INVOLVED IN formation of cytoplasmic translation initiation complex; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; eukaryotic translation initiation factor 3 complex; membrane; INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; arsenite(3-) 10 10 10 q26 114525146 114570792 - 120794541 120840959 - 119035029 119080822 - 1580863;6480464;8554872 10444591;10611228;11102443;11169732;11384103;11590142;12124384;12477932;12588972;12812986;12878157;12904573;14519125;15946946;16385451;16497727;16541103;16582619;16829125;17322308;17353931;17361185;17381544;17403899;17581632;18000879;18029348;18354498;18423202;18502210;18568671;18599441;18628297;18725400;18781797;19245811;19327350;19454010;19615732;19738201;19946888;20020773;20056645;20068067;20360068;20399188;20562859;20647036;20818067;20936779;21078624;2110361;21139048;21319273;21610145;21625209;21890473;21906983;21963094;22022972;22053931;22108332;22145905;22190034;22268729;22505724;22623428;22634302;22863883;22939629;22952844;23000965;23125841;23127338;23184937;23393223;23437357;23455922;23463506;23530232;23623729;23766293;23862649;23921387;24320561;24396066;24457600;24515614;24550385;24639526;24816145;24912683;25015289;25027693;8590280;8816444;8995409;8995410;9054404;9150439;9341143;9418880;9790534;9804427;9822659;9925932 8661 Q14152 ABBA01062919;ABBA01062920;ABBA01062921;AK302575;AK307610;AK309542;AL355598;AMYH02023898;AMYH02023899;AMYH02023900;AU279600;BC020285;BC033769;BC054342;BC064926;BC107776;BC114429;CH471066;D50929;JX312508;NM_003750;U58046;U58047;U78311 AAB41584;AAB41586;AAB80695;AAH33769;AAH54342;AAH64926;AAI07777;AAI14430;AFR31791;BAA09488;BAG63833;EAW49408;NP_003741;Q14152 Hs.523299 1677214;1684090;1684505;1689628;1795754;2140070;2174982;2190537;5015861;5037552;5491726;7185938 D10S16;D10S2416;D8S2279;EIF3S10;EIF3S10_439;EST20A11;RH11315;RH25362;RH64952;RH98964;WI-14638 EIF3;EIF3S10;KIAA0139;P167;TIF32;eIF3-p170;eIF3-theta;p180;p185 EIF3, p180 subunit;OTTHUMP00000020589;centrosomin homolog;cytoplasmic protein p167;eIF-3-theta;eIF3 p167;eIF3 p180;eIF3 p185;eukaryotic translation initiation factor 3 subunit 10;eukaryotic translation initiation factor 3 subunit A;eukaryotic translation initiation factor 3, subunit 10 (theta, 150/170kD);eukaryotic translation initiation factor 3, subunit 10 (theta, 170kD);eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa;eukaryotic translation initiation factor 3, subunit 10, 170kD protein-coding ENSG00000107581 HGNC:3271 03618 602039 VALIDATED 3051016 EIF3EP3 eukaryotic translation initiation factor 3, subunit E pseudogene 3 2 2 2 159040122 159040397 + 165430250 165430525 + 164573740 164574015 + 100462836 ABBA01004908;AC107075;AMYH02005118;NG_021590 1686498 RH27221 pseudo HGNC:37920 INFERRED 1318894 EIF3C eukaryotic translation initiation factor 3, subunit C ENCODES a protein that exhibits poly(A) RNA binding; translation initiation factor activity; INVOLVED IN translational initiation; ASSOCIATED WITH Melanoma (inferred); FOUND IN eukaryotic translation initiation factor 3 complex; INTERACTS WITH all-trans-retinoic acid; arsenous acid; carbamazepine 16 16 16 p11.2 28059155 28083432 - 28699879 28747051 + 28688558 28735730 + 1580863;6480464;8554872 10493829;10504338;12477932;12514125;12588972;14519125;14702039;15047060;15146197;15231748;15302935;15489334;15840729;15946946;16083285;16097034;16169070;16196087;16286006;16341674;16964243;17081983;17322308;17361185;17403899;17581632;18599441;18628297;18781797;19245811;19615732;19850743;19915574;20020773;20360068;20508642;20972266;21081666;21102463;21145461;21209461;21319273;21890473;21900206;21906983;21963094;21987572;22016036;22145905;22190034;22505724;22863883;22939629;23000965;23128233;23463506;23733421;23862649;24092755;24515614;24583282;24816145;24912683;25027693;8995409;8995410;9822659 8663 H3BPE3;H3BPE4;H3BTY8;Q99613 AA679705;ABBA01045690;AC002544;AC145285;AK000739;AK055366;AK130531;AK292155;AK293264;AK299421;AK301183;AK301233;AK303790;AK304500;AL045958;AMYH02031800;AMYH02031801;AMYH02031802;AMYH02031803;AMYH02031804;AMYH02031805;AMYH02031806;AMYH02031807;AMYH02031808;AMYH02031809;AY762099;BC000533;BC001571;BC071705;BC107692;BC157842;BC157849;BE780094;BF665714;BM757468;BT007335;BX648075;CA420261;CH878380;CN410678;DC341554;NM_001037808;NM_001199142;NM_001267574;NM_001286478;NM_003752;U46025;U91326 AAC27426;AAC27674;AAD03462;AAH00533;AAH01571;AAH71705;AAI07693;AAI57843;AAI57850;AAP35999;AAX07826;ABM82558;ABM85748;BAA91352;BAF84844;BAG51506;BAG56795;BAG61402;BAG62767;BAG62805;BAG64747;BAG65308;EAW50492;EAW50493;EAW50494;EAW50495;EAW50496;NP_001032897;NP_001186071;NP_001254503;NP_001273407;NP_003743;Q99613 Hs.567374 1736558;2145041;5016478;5024413 D16S2553E;GDB:434012;L17877;SGC31754 EIF3CL;EIF3S8;FLJ53378;FLJ54400;FLJ54404;FLJ55450;FLJ55750;FLJ78287;MGC189737;MGC189744;eIF3-p110 OTTHUMP00000125295;cell migration-inducing protein 17;eIF3 p110;eukaryotic translation initiation factor 3 subunit 8;eukaryotic translation initiation factor 3 subunit C;eukaryotic translation initiation factor 3, subunit 8 (110kD);eukaryotic translation initiation factor 3, subunit 8, 110kDa protein-coding ENSG00000184110 HGNC:3279 04889 603916 VALIDATED 3516294 EIF3EP4 eukaryotic translation initiation factor 3, subunit E pseudogene 4 3 3 3 180995908 180996955 - 182561361 182562408 - 182843573 182844620 - 100422200 ABBA01058491;AC069431;AMYH02008270;NG_022232 pseudo HGNC:37921 INFERRED 1346432 EIF3EP1 eukaryotic translation initiation factor 3, subunit E pseudogene 1 6 6 6 q13 74396202 74397681 + 74001659 74003138 + 73291936 73293415 + 9403073;9847074 3647 ABBA01040310;AC019205;AMYH02013906;NG_001023 1666974;1812602;1820570;1823370;1831840;1855756;1855758;1922870;1922872;1922874;1922876;1922878;1922880;1922882;1922884;1922886;1922888;1922890;1922892;1922894;1922896;1922898;2159494;2172145;2172147;2183855 A002C29;A005C09;D6S1876;ECD07311;ECD11360;ECD12775;ECD17058;G19931;G20265;REN32259;REN32260;REN32261;REN32262;REN32263;REN32264;REN32265;REN32266;REN32267;REN32268;REN32269;REN32270;REN32271;REN32272;REN32273;RH44515;WI-15927 EIF3EP;EIF3S6P1;INT6P1 APPROVED pseudo HGNC:6102 INFERRED 1344484 EIF3FP1 eukaryotic translation initiation factor 3, subunit F pseudogene 1 21 21 p11.2 11180762 11181817 - 10330640 10331695 + 10830953 54053 ABBA01159632;AMYH02037510;AP003900;NG_000925 1744293 GDB:451583 EIF3FP;EIF3S5P APPROVED pseudo HGNC:3276 INFERRED 3362169 EIF3EP2 eukaryotic translation initiation factor 3, subunit E pseudogene 2 2 2 2 q24.2 156555071 156557088 + 162944769 162946786 + 162088259 162090276 + 100132597 ABBA01004891;AC008063;AMYH02005094;NG_023025 pseudo HGNC:37919 INFERRED 3517377 EIF3FP3 eukaryotic translation initiation factor 3, subunit F pseudogene 3 2 2 2 p16.1 58321740 58322998 + 58478564 58479822 + 58251429 58252687 + 11181995;19615732 339799 ABBA01075308;AC007250;AMYH02003889;CH471053;NG_006949 EAX00053;EAX00054;EAX00055 pseudo HGNC:37625 INFERRED 1323023 EIF3E eukaryotic translation initiation factor 3, subunit E ENCODES a protein that exhibits poly(A) RNA binding; protein N-terminus binding; translation initiation factor activity; INVOLVED IN nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; translational initiation; PARTICIPATES IN hypoxia inducible factor pathway; hepatitis C virus infection pathway; FOUND IN cytoplasm; eukaryotic translation initiation factor 3 complex; extracellular vesicular exosome; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; benzo[a]pyrene diol epoxide I; cadmium dichloride 8 8 8 q22-q23 105401123 105448104 - 109213972 109260959 - 108201743 108248730 - 6480464;6484113;6907045 10504338;10644362;11118224;11121040;11590142;12220626;12386384;12435599;12477932;12553909;12588972;14519125;14667819;14702039;15030549;15231748;15489334;15558017;15592455;15862967;15867213;16045761;16169070;16189514;16343815;16766523;17220478;17310990;17314511;17322308;17324924;17353931;17403899;17468741;17516841;17581632;17623298;18029348;18157088;18562274;18599441;18628297;18781797;19454010;19471022;19615732;19738201;19946888;20360068;20434207;20453879;20462248;20890303;21139048;21319273;21693764;21732829;21890473;21906983;21963094;21987572;21988832;22053931;22190034;22268729;22505724;22508697;22532700;22553336;22586326;22623428;22797925;22863883;22907435;22939629;22960363;23000965;23125841;23184937;23402259;23463506;23478175;24092755;24250222;24654937;24736843;24778252;24816145;8688078;8995409;8995410;9295280;9403073;9733766;9822659 3646 B3KW56;E5RGA2;E5RHS5;E5RII3;E5RIP5;E5RIT4;E5RJ25;H0YAW4;H0YBP5;H0YBR5;P60228 ABBA01037703;ABBA01037704;AC087620;AK124178;AK310902;AK313186;AMYH02018587;AP001331;BC000734;BC005944;BC008419;BC016706;BC017887;BC021679;BG498300;CH471060;CR457029;CR542275;NM_001568;U54562;U62962;U85947;U94174;U94175 AAB58251;AAB88873;AAC51760;AAC51917;AAC51919;AAH00734;AAH08419;AAH16706;AAH17887;AAH21679;ABM83204;ABM86404;BAG36003;BAG54018;CAG33310;CAG47071;EAW91918;EAW91919;NP_001559;P60228 Hs.405590 1643656;1660309;1686498;1704706;1725097;1823370;1855756;1855758;1922886;1922888;2150417;2159494;2183855 A002C29;D6S1876;ECD12775;G19931;REN32267;REN32268;RH118844;RH27221;RH36368;RH44515;RH47662;SHGC-79010;STS-N21321 EIF3-P48;EIF3S6;INT6;eIF3-p46 OTTHUMP00000227726;OTTHUMP00000227727;eIF-3 p48;eukaryotic translation initiation factor 3 subunit 6;eukaryotic translation initiation factor 3 subunit E;eukaryotic translation initiation factor 3, subunit 6 (48kD);eukaryotic translation initiation factor 3, subunit 6 48kDa;mammary tumor-associated protein INT6;murine mammary tumor integration site 6 (oncogene homolog);viral integration site protein INT-6 homolog protein-coding ENSG00000104408 HGNC:3277 03734 602210 VALIDATED 1626559 EIF3IP1 eukaryotic translation initiation factor 3, subunit I pseudogene 1 7 7 7 q31.1 104411914 104412900 - 109599284 109600270 - 109959227 109960213 - 442720 ABBA01057878;AC004161;AMYH02016552;BM551412;CH236947;NR_003024 Hs.530096;Hs.535194 1779101;2139791 GDB:1318290;RH64484 RG208K23 pseudo ENSG00000237064 HGNC:13277 PROVISIONAL 1350072 EIF3I eukaryotic translation initiation factor 3, subunit I ENCODES a protein that exhibits translation initiation factor activity; INVOLVED IN translational initiation; FOUND IN eukaryotic translation initiation factor 3 complex; extracellular vesicular exosome; INTERACTS WITH arsenous acid; atrazine; copper(2+) sulfate 1 1 1 p34.1 30957873 30967376 + 32687971 32697205 + 32222370 32231604 + 1302501;1580863;6480464 7566156 10706629;11781097;12477932;12588972;14519125;14688252;15047060;15231747;15489334;15592455;15604093;16159877;16196087;16236267;16341674;16541103;16929481;17314511;17322308;17353931;17361185;17403899;17581632;17620599;18599441;18624398;18628297;18781797;19059401;19329541;19615732;19738201;20020773;20360068;20508642;20972266;21139048;21145461;21319273;21378021;21890473;21906983;21963094;21987572;22022972;22053931;22145905;22174317;22190034;22505724;22586326;22623428;22863883;22939629;22990118;23000965;23349634;23398456;23402259;23463506;23602568;24163370;24457600;24816145;25015289;25027693;7566158;8125298;8995409;8995410;9368056;9599024;9813058;9822659 8668 Q13347;Q5TFK1;Q5U0F4 ABBA01023434;ABBA01023435;ABBA01023436;AF116697;AK130633;AK222483;AK225024;AK289356;AK289882;AL049795;AL121991;AMYH02000706;BC000413;BC003140;BC018815;BM761611;BT019597;CH471059;NM_003757;U36764;U39067 AAC50224;AAC97144;AAF71117;AAH00413;AAH03140;AAV38404;ABM82175;ABM85526;BAD96203;BAF82045;BAF82571;EAX07552;EAX07553;EAX07554;EAX07555;NP_003748;Q13347 Hs.530096 1680070;1732858;2107033;2115908;2121843;2139791;2144777;5022322;5037552 D11S2560;D1S1290;D8S2279;EIF3S2_7926;RH64484;RH71226;RH98843;SHGC-74136;SHGC-74533 EIF3S2;PRO2242;TRIP-1;TRIP1;eIF3-beta;eIF3-p36 OTTHUMP00000008492;TGF-beta receptor-interacting protein 1;TGFbeta receptor-interacting protein 1;eIF-3-beta;eIF3 p36;eukaryotic translation initiation factor 3 subunit 2;eukaryotic translation initiation factor 3 subunit I;eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD);eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa;predicted protein of HQ2242 protein-coding ENSG00000084623 HGNC:3272 04884 603911 VALIDATED 1605321 EIF3FP2 eukaryotic translation initiation factor 3, subunit F pseudogene 2 INTERACTS WITH disodium selenite 2 13 13 p13 86946645 86947692 + 35172 36220 - 18206420 18207468 - 6480464 83880 Q9BX72 ABBA01048749;AL356585;NG_005632 IFP38 pseudo HGNC:28863 17134 INFERRED 1351668 EIF3H eukaryotic translation initiation factor 3, subunit H ENCODES a protein that exhibits poly(A) RNA binding; translation initiation factor activity; INVOLVED IN translational initiation; PARTICIPATES IN measles infection pathway; ASSOCIATED WITH Breast Neoplasms; Prostatic Neoplasms; FOUND IN eukaryotic translation initiation factor 3 complex; extracellular vesicular exosome; membrane; INTERACTS WITH 5-fluorouracil; disodium selenite; 17alpha-ethynylestradiol (ortholog) 8 8 8 q24.11 113843130 113956776 - 117657055 117768258 - 116644816 116755823 - 1580863;2289900;2289901;2289902;6480464;6907045 10362802;11733359;14997205 12477932;12588972;12812986;14519125;14578863;14702039;15489334;16159877;16189514;16196087;16226712;16263121;16286006;16344560;16652384;17043677;17081983;17322308;17353931;17361185;17403899;17581632;18029348;18187620;18372905;18544531;18599441;18628297;19056867;19060904;19204574;19615732;19946888;20016921;20020773;20360068;20437058;20508642;20659471;20862326;21139048;21319273;21761138;21890473;21906983;21963094;22108332;22190034;22505724;22863883;22939629;22969067;22990118;23000965;23184937;23398456;23402259;23455922;23463506;24148822;24163370;24816145;8125298;8995409;8995410;9341143;9822659 8667 B3KS98;E5RFH0;E5RFW7;E5RGU4;E5RH59;E5RHC7;E5RJT0;O15372;Q6IB98 AA902770;ABBA01037790;ABBA01037791;ABBA01037792;AC023520;AF092576;AK093128;AK222520;AK222620;AK296162;AMYH02018656;AMYH02018657;AP002905;AU117206;BC000386;BC090880;BT019594;CH471060;CR456906;NM_003756;U54559 AAC84044;AAD03465;AAH00386;AAH90880;AAV38401;BAD96240;BAD96340;BAG52660;BAG58901;CAG33187;EAW91956;EAW91957;EAW91958;EAW91959;NP_003747;O15372 Hs.492599 1748949;1752221;1760489;1853067;2127825;2133189;2133191;2176571 A001W19;D8S1668;G19711;RH69256;SHGC-106117;SHGC-110597;SHGC-143430;SHGC-31909 EIF3S3;MGC102958;eIF3-gamma;eIF3-p40 OTTHUMP00000227892;OTTHUMP00000227893;eIF-3-gamma;eIF3 p40 subunit;eukaryotic translation initiation factor 3 subunit 3;eukaryotic translation initiation factor 3 subunit H;eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD);eukaryotic translation initiation factor 3, subunit 3 (gamma, 40kD);eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa protein-coding ENSG00000147677 HGNC:3273 04885 603912 VALIDATED 1314535 EIF3F eukaryotic translation initiation factor 3, subunit F ENCODES a protein that exhibits translation initiation factor activity; ubiquitin-specific protease activity; INVOLVED IN protein deubiquitination; translational initiation; FOUND IN eukaryotic translation initiation factor 3 complex; membrane; INTERACTS WITH 17beta-estradiol; arsenous acid; benzo[a]pyrene diol epoxide I 11 11 11 p15.4 8124565 8133440 + 8008867 8017718 + 7987320 7996171 + 1580863;6480464 12446680;12477932;12588972;14519125;14702039;15231748;15489334;15862967;16159877;16169070;16189514;16196087;16286006;16537434;16541103;16712791;17207965;17322308;17353931;17361185;17403899;17581632;17918192;18354498;18381585;18599441;18628297;18724935;19073596;19237569;19245811;19454010;19615732;19738201;19854136;19946888;20360068;20800221;21081666;21124883;21139048;21832049;21963094;22145905;22190034;22268729;22457825;22505724;22797925;22863883;22939629;23275563;23463506;24457600;24654937;25027693;8995409;8995410;9341143;9822659 8665 B3KSH1;B4DEW9;E9PQV8;H0YDT6;O00303 ABBA01028684;AC116456;AK027739;AK093511;AK095574;AK289637;AK291354;AK293826;AK297621;AMYH02024287;BC000490;BC073753;BT006894;CB141463;CD050033;CH471064;CR456959;NM_003754;U94855 AAD03467;AAH00490;AAP35540;ABM81692;ADQ32743;BAC04577;BAF82326;BAF84043;BAG52733;BAG57230;BAG59997;CAG33240;EAW68637;NP_003745;O00303 Hs.516023 1685682;1744293;1851963;5117190 D11S1152;GDB:451583;GDB:451661;RH80696 EIF3S5;eIF3-p47 OTTHUMP00000230693;deubiquitinating enzyme eIF3f;eIF-3-epsilon;eIF3-epsilon;eukaryotic translation initiation factor 3 subunit F;eukaryotic translation initiation factor 3, subunit 5 (epsilon, 47kD);eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa protein-coding ENSG00000175390 HGNC:3275 04887 603914 VALIDATED 6484049 EIF3KP1 eukaryotic translation initiation factor 3, subunit K pseudogene 1 5 5 5 q21.1 98315840 98316588 + 102368017 102368765 + 103032313 103033061 + 134505 ABBA01069149;AC010250;AMYH02011879;CH471086;NG_022888;NG_029444 EAW49082 1664656;1712228;1735484;2149350;2169593 D5S1604E;D5S2479;G54022;RH67974;STS-M37721 pseudo HGNC:44016 INFERRED 6484027 EIF3KP2 eukaryotic translation initiation factor 3, subunit K pseudogene 2 3 3 3 p24.2 24533068 24533696 + 24597322 24597950 + 24555831 24556459 + 100129045 ABBA01025027;AC012087;AMYH02006411;NG_022242 1724519;1736888;1749007;2112570 D3S266;D3S4343;RH122519;SHGC-110646 pseudo HGNC:44017 INFERRED 1342979 EIF3K eukaryotic translation initiation factor 3, subunit K The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM, Mar 2008] 19 19 19 q13.2 35911748 35929621 + 39109722 39127595 + 38619082 38636955 + 1580863;6480464;8554872 11042152;12006665;12477932;12588972;14519125;15180986;15327989;15489334;16189514;17081983;17207965;17322308;17353931;17403899;17581632;18029348;18577580;18599441;18628297;19471022;19615732;19738201;19946888;20360068;21139048;21693764;21890473;21906983;21963094;21987572;21988832;22053931;22190034;22505724;22623428;22678362;22779921;22863883;22939629;23000965;23349634;23463506;24036361;24250222;24816145 27335 B4DQ48;K7EIN6;K7EK53;K7EMQ9;K7EQM4;K7ERF1;K7ES31;Q9UBQ5 AB019392;ABBA01040690;AC008649;AF077051;AF085358;AF109355;AF315506;AI054400;AK026531;AK289554;AK298635;AK301035;AK316344;AMYH02036076;AY245432;BC001031;BC007335;BC007559;BF664642;BF965565;BG470776;BG943109;CH471126;JX870647;NM_001300992;NM_013234;XM_006723147 AAD27784;AAD40193;AAH01031;AAH07335;AAH07559;AAK01365;AAP22070;AAQ13503;ADQ31730;AGL61413;BAA76626;BAF82243;BAG60810;BAG62649;BAH14715;EAW56803;EAW56804;EAW56805;EAW56806;EAW56807;EAW56808;NP_001287921;NP_037366;Q9UBQ5;XP_006723210 Hs.314359 2160703;2163029;2191773;5022114;5124389 A008T17;D5S2421;MARC_7311-7312:996687763:1;RH45462;RH91438 ARG134;EIF3-p28;EIF3S12;HSPC029;M9;MSTP001;PLAC-24;PLAC24;PRO1474;PTD001 EIF3K {ECO:0000255|HAMAP-Rule:MF_03010};eIF-3 p25;eIF-3 p25 {ECO:0000255|HAMAP-Rule:MF_03010};eIF-3 p28;eukaryotic translation initiation factor 3 subunit 12;eukaryotic translation initiation factor 3 subunit 12 {ECO:0000255|HAMAP-Rule:MF_03010};eukaryotic translation initiation factor 3 subunit K;eukaryotic translation initiation factor 3 subunit K {ECO:0000255|HAMAP-Rule:MF_03010};eukaryotic translation initiation factor 3, subunit 12;muscle specific;muscle-specific gene M9 protein APPROVED protein-coding ENSG00000178982 HGNC:24656 11740 609596 VALIDATED 6484001 EIF3KP3 eukaryotic translation initiation factor 3, subunit K pseudogene 3 4 4 4 q26 114256833 114257583 - 116964530 116965280 - 116043374 116044124 - 645368 ABBA01063858;AC020701;AMYH02009968;NG_022029 pseudo HGNC:44018 INFERRED 1316234 EIF3G eukaryotic translation initiation factor 3, subunit G ENCODES a protein that exhibits poly(A) RNA binding; translation initiation factor activity; INVOLVED IN translational initiation; FOUND IN eukaryotic translation initiation factor 3 complex; INTERACTS WITH arsenous acid; cobalt dichloride; diarsenic trioxide 19 19 19 p13.2 10121181 10126038 - 10225690 10230599 - 10115014 10119923 - 1580863;6480464 10887144;12477932;12588972;14519125;14688252;15231747;15302935;15489334;16243297;17094969;17322308;17353931;17361185;17403899;17581632;18599441;18628297;19471022;19615732;20360068;20406461;21044950;21139048;21145461;21832049;21890473;21900206;21906983;22190034;22493286;22863883;22939629;23398456;23402259;23463506;24080033;25027693;8889549;8995409;8995410;9341143;9822659;9973622 8666 K7EL20;K7EL60;K7ENA8;K7ENH0;K7EP16;K7ER90;K7ERL8;O75821 AA134976;ABBA01029947;AC020931;AF020833;AF092453;AF094850;AK291320;AK293374;AK296377;AK309944;AK315896;AK316040;AK316335;AMYH02035484;BC000733;BC008469;BE017996;BF701069;BT006889;CH471106;CR457134;NM_003755;U96074 AAB71866;AAC78728;AAG15396;AAG15419;AAH00733;AAH08469;AAP35535;ABM87800;ABM92233;BAF84009;BAF98787;BAG59051;BAH11496;BAH14411;BAH14706;CAG33415;EAW84078;NP_003746;O75821 Hs.529059 1734626;5037552;5127747 D19S632E;D8S2279;RH78956 EIF3-P42;EIF3S4;eIF3-delta;eIF3-p44 eIF-3 RNA-binding subunit;eIF-3-delta;eIF3 p42;eIF3 p44;eukaryotic translation initiation factor 3 RNA-binding subunit;eukaryotic translation initiation factor 3 subunit 4;eukaryotic translation initiation factor 3 subunit G;eukaryotic translation initiation factor 3 subunit p42;eukaryotic translation initiation factor 3, subunit 4 (delta, 44kD);eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa protein-coding ENSG00000130811 HGNC:3274 04886 603913 VALIDATED 1350196 EIF3LP1 eukaryotic translation initiation factor 3, subunit L pseudogene 1 14 14 14 q31.1 62424193 62426059 + 82382544 82384402 + 81916200 81918058 + 319117 ABBA01030602;AL355838;AMYH02029633;NG_002498 EIF3EIPP1;EIF3S6IPP pseudo HGNC:20010 INFERRED 7205143 EIF3LP3 eukaryotic translation initiation factor 3, subunit L pseudogene 3 INTERACTS WITH 17beta-estradiol; 5-azacytidine; bucladesine 10 10 10 p11.1 38139620 38140432 - 38368987 38369799 - 38080059 38080871 - 6480464 340947 ABBA01033288;AL117339;AMYH02022660;NG_022143 1665999 G27412 pseudo HGNC:44976 INFERRED 7244917 EIF3J-AS1 EIF3J antisense RNA 1 (head to head) INTERACTS WITH valproic acid 15 15 15 q21.1 21716459 21718877 - 44826703 44829121 - 44534505 44536923 - 6480464 12477932 645212 ABBA01039205;AC009996;AMYH02030343;BC026043;BC066970;DB480720;HG506966;HG506968;NR_034170;NR_034171 AAH26043 Hs.594287 2171275;5015961 D15S1477;SHGC-30973 RP11-151N17.2 ncrna HGNC:48616 VALIDATED 1607072 EIF3M eukaryotic translation initiation factor 3, subunit M This gene encodes a protein that is part of the eurkaryotic translation initiation factor 3 complete (eIF-3) required for protein synthesis. Elevated levels of the encoded protein are present in cancer cell lines. Inactivation of the encoded protein has been shown to interfere with translation of herpes virus mRNAs by preventing the association of mRNAs with the ribosomes. A pseudogene of this gene is located on the X chromosome. [provided by RefSeq, Dec 2011] 11 11 11 p13 32752144 32770766 + 32605313 32624037 + 32583767 32602491 + 6480464;8554872 12477932;14702039;15231747;15919898;15919899;16169070;17322308;17353931;17719568;18599441;18781797;19471022;19483676;19615732;20360068;20379614;20508642;20676407;20838379;20972266;21139048;21832049;21890473;21906983;21963094;22022972;22053931;22174317;22190034;22505724;22678362;22863883;22939629;23000965;23402259;23602568;23891004;24816145;25015289;25027693;8125298 10480 B4E2Q4;E7ESM3;E9PN86;E9PRI2;E9PRY0;E9PSB3;H0YCQ8;J3KNJ2;Q7L2H7 ABBA01060908;AF064603;AF277183;AK001768;AK131064;AK222564;AK292139;AK300002;AK304378;AK307121;AK312512;AL078477;AMYH02024559;AY769947;BC011937;BC019103;BC020458;BC051292;CH471064;CR450300;DB479224;DQ185042;NM_006360 AAC17108;AAH19103;AAH51292;AAK07542;AAX12524;ABD14422;BAD96284;BAF84828;BAG35413;BAG61821;BAG65216;CAG29296;EAW68217;EAW68218;NP_006351;Q7L2H7 Hs.502244 1703220;1734024;5014593;5491707 A002N23;AU040300;D11S2164;SGC31799 B5;FLJ29030;GA17;PCID1;TANGO7;hfl-B5 B5 receptor;OTTHUMP00000232370;OTTHUMP00000232371;PCI domain containing 1 (herpesvirus entry mediator);PCI domain-containing protein 1;dendritic cell protein;eukaryotic translation initiation factor 3 subunit M;fetal lung protein B5;transport and golgi organization 7 homolog APPROVED protein-coding HGNC:24460 09969 609641 VALIDATED 1348458 EIF4A1P1 eukaryotic translation initiation factor 4A1 pseudogene 1 21 21 21 q21.2 13922506 13923473 - 28739331 28740298 - 27367012 27367979 - 10830953;19846067;24124411 54052 ABBA01057229;AMYH02037670;AP001604;NG_000924 1756761 SHGC-143891 EIF4A1P APPROVED pseudo HGNC:3283 INFERRED 1317118 EIF3J eukaryotic translation initiation factor 3, subunit J This gene encodes a core subunit of the eukaryotic initiation factor 3 complex, which participates in the initiation of translation by aiding in the recruitment of protein and mRNA components to the 40S ribosome. There are pseudogenes for this gene on chromosomes 1, 3, and 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] 15 15 15 q21.1 21719022 21744754 + 44829266 44855001 + 44537068 44562803 + 1580863;6480464 10672017;11560931;12477932;14519125;14688252;14702039;15146197;15489334;15703437;15946946;16169070;16766523;16964243;17081983;17190833;17322308;17403899;17588516;18599441;18628297;18658124;19471022;19615732;20060839;20360068;21139048;21890473;22025682;22113938;22190034;22804784;22863883;23000965;23455922;24163370;24816145;9822659 8669 H0YGJ7;H0YLP3;O75822 ABBA01039203;ABBA01039204;AC009996;AF090923;AK002006;AK023388;AK300659;AL536561;AMYH02030343;AMYH02030344;BC002719;BU621047;CH471082;CN414611;NM_001284335;NM_001284336;NM_003758;U97670 AAC78729;AAF24039;AAH02719;BAB14555;BAG62345;EAW77268;EAW77269;EAW77270;EAW77271;NP_001271264;NP_001271265;NP_003749;O75822 Hs.404056 1673139;1795756;2111228;2163794;2166992;7188959;7188965 Bdaa6a02;D15S1338;D15S484;EIF3S1_619;RH15713 EIF3S1;eIF3-alpha;eIF3-p35 OTTHUMP00000161809;OTTHUMP00000237165;OTTHUMP00000237166;eIF-3-alpha;eIF3 p35;eukaryotic translation initiation factor 3 subunit 1;eukaryotic translation initiation factor 3 subunit J;eukaryotic translation initiation factor 3, subunit 1 (alpha, 35kD);eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa APPROVED protein-coding ENSG00000104131 HGNC:3270 04883 603910 REVIEWED 1352708 EIF3LP2 eukaryotic translation initiation factor 3, subunit L pseudogene 2 10 10 10 q11.21 39065551 39066541 + 43062124 43063114 + 42566676 42567666 + 143341 ABBA01049990;AL022345;AMYH02022701;NG_001544 1677602 RH40245 EIF3EIPP2;EIF3S6IPP2 pseudo HGNC:24657 INFERRED 3051018 EIF4A1P12 eukaryotic translation initiation factor 4A1 pseudogene 12 14 14 14 8928499 8928642 + 29062979 29063122 + 28593773 28593916 + 100462830 ABBA01061375;AL121766;AMYH02028915;NG_022856 pseudo HGNC:37933 INFERRED 3051020 EIF4A1P13 eukaryotic translation initiation factor 4A1 pseudogene 13 7 7 7 82783344 82783582 - 88078103 88078341 - 88448788 88449026 - 100462826 ABBA01045859;AC002069;AMYH02016227;CH236949;NG_022543 pseudo HGNC:37934 INFERRED 2947880 EIF4A1P2 eukaryotic translation initiation factor 4A1 pseudogene 2 Y Y p11.2 5205644 5207021 - 5337603 5338980 - 12815422;9847074 359792 ABBA01069897;ABBA01069898;AC010129;NG_002809;NG_011652 2188139;2188145 G66076;G66080 pseudo HGNC:23946 INFERRED 3051022 EIF4A1P3 eukaryotic translation initiation factor 4A1 pseudogene 3 9 9 9 105198064 105198282 - 134657960 134658178 - 131782573 131782791 - 100462824 ABBA01012104;AL160271;AMYH02021800;NG_021637 pseudo HGNC:37922 INFERRED 1317885 EIF3L eukaryotic translation initiation factor 3, subunit L ENCODES a protein that exhibits poly(A) RNA binding; translation initiation factor activity; INVOLVED IN translational initiation; FOUND IN eukaryotic translation initiation factor 3 complex; membrane; INTERACTS WITH benzene-1,2,4-triol; hydralazine; valproic acid 22 22 22 q 22047135 22086399 + 38245379 38284789 + 37848774 37888782 + 1580863;6480464 11042152;11590142;11592397;12393749;12477932;14702039;15231747;15231748;15461802;15489334;16169070;16189514;16344560;16522924;17322308;17353931;17403899;17581632;18029348;18599441;18781797;19167051;19615732;19738201;19946888;20360068;20508642;21081666;21139048;21145461;21890473;21900206;21906983;21963094;21987572;22190034;22505724;22586326;22623428;22863883;22939629;23455922;23463506;23800076;24250222;24457600;24816145;8125298 51386 B0QY89;B0QY90;C9JHP4;C9K0Q7;H0Y7E6;H7C133;H7C3A0;Q9Y262 ABBA01055490;ABBA01055491;ABBA01055492;AF077207;AF083243;AF109359;AK027429;AK056129;AK093540;AK098457;AK098713;AK129648;AK222496;AK222529;AK293629;AK298776;AK301323;AK302346;AK315533;AL022311;AL357455;AMYH02038342;AMYH02038343;BC001101;BC007510;BC011448;BC029265;CD638692;CH471095;CR456436;DA051005;DA663575;NM_001242923;NM_016091;XM_005261625;XM_006724260;Z97630 AAD27002;AAD39841;AAH01101;AAH07510;AAH11448;AAH29265;AAQ13507;ABM82768;ABM84521;ABM85956;ABW03762;BAC05310;BAD96216;BAD96249;BAG37913;BAG51322;BAG51631;BAG52737;BAG57085;BAG60918;BAG62872;BAG63674;CAG30322;CAK54466;CAK54765;EAW60195;EAW60196;EAW60197;EAW60198;NP_001229852;NP_057175;Q9Y262;XP_005261682;XP_006724323 Hs.446852 1665999;1677602;5037552 D8S2279;G27412;RH40245 EIF3EIP;EIF3S11;EIF3S6IP;HSPC021;HSPC025;MSTP005 OTTHUMP00000198211;OTTHUMP00000198212;eIEF associated protein HSPC021;eukaryotic translation initiation factor 3 subunit 6-interacting protein;eukaryotic translation initiation factor 3 subunit E-interacting protein;eukaryotic translation initiation factor 3 subunit L;eukaryotic translation initiation factor 3, subunit 6 interacting protein;eukaryotic translation initiation factor 3, subunit E interacting protein protein-coding ENSG00000100129 HGNC:18138 10932 VALIDATED 2881093 EIF4A1P10 eukaryotic translation initiation factor 4A1 pseudogene 10 X X X 91868039 91869418 - 91368097 91369476 - 92113098 92114477 - 100421533 AL136362;AMYH02039955;NG_022621 2188139;2188145 G66076;G66080 pseudo HGNC:37930 INFERRED 3436178 EIF4A1P4 eukaryotic translation initiation factor 4A1 pseudogene 4 12 12 12 q13.13 53195659 53196874 + 53547056 53548271 + 53153272 53154487 + 22118674 728698 ABBA01008317;AC073573;AMYH02026515;NG_021721 2171703 D12S1871 pseudo HGNC:37923 INFERRED 3184766 EIF4A1P5 eukaryotic translation initiation factor 4A1 pseudogene 5 13 13 13 q13.3 18579738 18583773 - 37512452 37516487 - 36938315 36942350 - 390394 ABBA01021349;AL138706;AMYH02027873;NG_011401 1737325;2111614;2111622 D13S1550;D13S1559;D13S928 pseudo HGNC:37924 INFERRED 3539536 EIF4A1P8 eukaryotic translation initiation factor 4A1 pseudogene 8 10 10 10 q23.32 87641148 87642490 + 93896617 93898272 + 92136860 92138515 + 100289102 ABBA01021917;AL158040;AMYH02023528;NG_022188 2143903 G17554 FLJ20445 pseudo HGNC:37927 INFERRED 3161438 EIF4A1P6 eukaryotic translation initiation factor 4A1 pseudogene 6 13 13 13 q21.2 42170129 42171337 - 61211023 61212231 - 60636889 60638097 - 390407 ABBA01050216;AL161901;AMYH02028139;CH471124;NG_022897 EAW52083 pseudo HGNC:37925 INFERRED 3129632 EIF4A1P11 eukaryotic translation initiation factor 4A1 pseudogene 11 1 1 1 q25.2 152279656 152279958 + 179170759 179171061 + 179201624 179201926 + 100130006 ABBA01027822;AL512326;AMYH02002229;NG_021474;NG_028242 1649128;1652365;1652367;1708152;1795280;2134124;2146281;5114087 A005M30;ABL2_197;G20336;RH66836;RH69130;SGC38261;SHGC-75959;SHGC-79323 pseudo HGNC:37932 INFERRED 7241116 EIF4A2P2 eukaryotic translation initiation factor 4A2 pseudogene 2 10 10 10 68245742 68246604 + 74960121 74960983 + 73200363 73201225 + 100421579 ABBA01020332;AC016394;AMYH02023331;NG_025519 pseudo HGNC:45099 INFERRED 7256436 EIF4A2P3 eukaryotic translation initiation factor 4A2 pseudogene 3 11 11 11 q12.1 55367935 55368848 - 58009515 58010428 - 58242043 58242956 - 100133309 ABBA01021486;AMYH02024858;AP000435;NG_021786 pseudo HGNC:45100 INFERRED 7240942 EIF4A2P4 eukaryotic translation initiation factor 4A2 pseudogene 4 X X X p11.22 56684415 56685471 - 52861893 52862949 - 52832843 52833899 - 286512 ABBA01056334;ABBA01056335;AC244505;AL445236;AMYH02039427;NG_022602 1677997;2181201 RH68259;SGC31473 pseudo HGNC:45101 INFERRED 3103083 EIF4A2P1 eukaryotic translation initiation factor 4A2 pseudogene 1 18 18 18 p11.21 12795417 12796454 + 12912868 12913905 + 12912869 12913906 + 646171 ABBA01074032;AMYH02034341;AP002449;NG_022488 pseudo HGNC:37929 INFERRED 3077883 EIF4A1P9 eukaryotic translation initiation factor 4A1 pseudogene 9 17 17 17 p13.3 2506309 2507848 - 2489622 2491161 - 2586328 2587867 - 642746 ABBA01054715;AC015799;AMYH02032782;NG_022440 pseudo HGNC:37928 INFERRED 1354204 EIF4A1 eukaryotic translation initiation factor 4A1 ENCODES a protein that exhibits double-stranded RNA binding; poly(A) RNA binding; INVOLVED IN ATP catabolic process (inferred); cellular protein metabolic process (inferred); cytokine-mediated signaling pathway (inferred); PARTICIPATES IN mTOR signaling pathway; FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH (Z)-3-butylidenephthalide; all-trans-retinoic acid; arsenous acid 17 17 17 p13 7502379 7508647 + 7476024 7482324 + 7572706 7579006 + 6480464;6484113 10611228;10644445;10880459;11073994;11408474;11903057;12426392;12477932;12588972;15082783;15282546;15489334;16027165;16159877;16166382;16169070;16196087;16541103;16648488;17053147;17130132;17284590;17314511;17353931;17361185;17643375;18034160;18296639;18700728;18719248;18781797;19135240;19203580;19661379;19738201;19805454;19946888;20000738;20080577;20156963;20360068;20639865;20927385;20972266;21081666;21110914;21139048;21145461;21182205;21252943;21319273;21377182;21427765;21454508;21800051;21840318;21853274;21890473;21900206;21906983;21963094;21987572;22053931;22076380;22118674;22145905;22268729;22505724;22586265;22586326;22589333;22623428;22689062;22797925;22939629;22990118;23000965;23077236;23125841;23402259;23463506;23747307;23798571;24113185;24130170;24248602;24471916;24583282;24816145;25015289;25027693;25079319;3215517;8449919;8493113;8619474;9110174;9168945;9372926;9418880;9548260;9790779 1973 B4E102;J3KRC2;J3KS25;J3KS93;J3KSP3;J3KSZ0;J3KT04;J3KT12;J3KTB5;J3KTN0;J3QKZ9;J3QL43;J3QL52;J3QLN6;J3QQP0;J3QR64;J3QRP5;J3QS69;P60842 AA446856;ABBA01054873;AC016876;AF175325;AK130082;AK289453;AK291971;AK296664;AK297916;AK303222;AK303599;AK309274;AK312630;AMYH02032908;BC006210;BC009585;BC032078;BC073752;BG284868;BT019880;BT019881;CH471108;D13748;NM_001204510;NM_001416;U79273 AAF34151;AAH09585;AAH73752;AAV38683;AAV38684;ABM83970;ABM87287;BAA02897;BAF82142;BAF84660;BAG35515;BAG59261;BAG60234;BAG64309;BAG64614;EAW90166;EAW90167;EAW90168;EAW90169;NP_001191439;NP_001407;P60842 Hs.129673 1677160;1767709;1853135;2120336;2135284;5020647;5020649;5024740;5122515 A004D02;A005T43;G66079;G66086;RH11592;RH11637;RH36626;RH47184;SHGC-31951 DDX2A;EIF-4A;EIF4A;eIF-4A-I;eIF4A-I ATP-dependent RNA helicase eIF4A-1;OTTHUMP00000135288;eukaryotic initiation factor 4A-I;eukaryotic initiation factor 4AI;eukaryotic translation initiation factor 4A, isoform 1 APPROVED protein-coding ENSG00000161960 HGNC:3282 04030 602641 VALIDATED 1347862 EIF4BP1 eukaryotic translation initiation factor 4B pseudogene 1 INTERACTS WITH testosterone 14 14 14 q21.2 24406929 24407272 - 44546739 44547082 - 44077536 44077879 - 6480464 319118 ABBA01018034;AL109766;AMYH02029092;NG_002499 EIF4BP APPROVED pseudo HGNC:19929 INFERRED 1319448 EIF4A2 eukaryotic translation initiation factor 4A2 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN ATP catabolic process (inferred); cellular protein metabolic process (inferred); cytokine-mediated signaling pathway (inferred); FOUND IN cytosol (inferred); eukaryotic translation initiation factor 4F complex (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 2-methylcholine 3 3 3 q28 184937523 184943848 + 186501361 186507686 + 186783572 186789897 + 1580863;6480464 11172724;11408474;11922617;12477932;12588972;15047060;15489334;15946665;16014927;16169070;16567544;17353931;17643375;18250159;18593934;18976975;19034380;19596686;19615732;20360068;20639865;20972266;21110914;21139048;21427765;21890473;21900206;21906983;21963094;21987572;22053931;22360420;22505724;22589333;22759308;22939629;22944692;22990118;23000965;23383273;23463506;23559250;23824909;23867391;24105470;24816145;25027693;8125298;8449919;8521730 1974 C9JUF0;E7EMV8;E7EQG2;E9PBH4;F8WE11;J3KSN7;Q14240;Q9NZE6 AB209021;ABBA01058381;AC112907;AF208852;AK130087;AK225646;AK296279;AL117412;AL137681;AL556981;AMYH02008350;AY207392;BC006469;BC012547;BC013708;BC015842;BC016295;BC039344;BC048105;BT009860;CH471052;D30655;NM_001967;S79942 AAF64266;AAH12547;AAH13708;AAH15842;AAH16295;AAH48105;AAO66460;AAP88862;ABM82664;ABM85840;BAA06336;BAD92258;BAG58988;CAI46218;EAW78172;EAW78173;EAW78174;EAW78175;EAW78176;EAW78177;EAW78178;NP_001958;Q14240 Hs.518475;Hs.599481 1677997;1681582;1735188;1739485;1788590;1788594;2139524;2175627;2181201;2181203;5119459 D20S1005;D3S2828E;D3S3408;G67572;G67574;RH46123;RH68259;SGC31473;SHGC-30529;SHGC-77594;UTR-9640 BM-010;DDX2B;EIF4A;EIF4F;eIF-4A-II;eIF4A-II ATP-dependent RNA helicase eIF4A-2;OTTHUMP00000210098;OTTHUMP00000210100;OTTHUMP00000210101;eukaryotic initiation factor 4A-II;eukaryotic translation initiation factor 4A, isoform 2 APPROVED protein-coding ENSG00000156976 HGNC:3284 03062 601102 VALIDATED 3302174 EIF4BP2 eukaryotic translation initiation factor 4B pseudogene 2 10 10 10 p12.31 21004608 21006418 + 21317928 21319745 + 21028999 21030816 + 21088106 100129337 ABBA01034505;AL359175;AMYH02022415;KF455213;NG_017092;NG_022968 pseudo HGNC:37935 INFERRED 3078516 EIF4A1P7 eukaryotic translation initiation factor 4A1 pseudogene 7 13 13 13 q12.3 10248723 10250110 + 29172954 29174341 + 28598817 28600204 + 341784 ABBA01035724;AL138822;AMYH02027770;NG_011333 pseudo HGNC:37926 INFERRED 3418311 EIF4BP3 eukaryotic translation initiation factor 4B pseudogene 3 9 9 9 q22.32 69349890 69351734 + 98908292 98910135 + 96146010 96147853 + 100128771 ABBA01043600;AL449403;AMYH02021290;NG_021667 pseudo HGNC:37936 INFERRED 3129619 EIF4BP4 eukaryotic translation initiation factor 4B pseudogene 4 3 3 3 p22.1 42321125 42322943 + 42382041 42383859 + 42340549 42342367 + 100130064 ABBA01024770;AC092048;AMYH02006625;NG_022954 pseudo HGNC:37937 INFERRED 1352000 EIF4A3 eukaryotic translation initiation factor 4A3 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 74737992 74749960 - 78109013 78120982 - 80135214 80147183 - 1580863;6480464;6907045;8699517;7240710;8554872 10523622;10623621;11991638;12127692;12477932;14730019;14973490;15024115;15034551;15324660;15489334;15635413;15796914;16159877;16170325;16189514;16196087;16209946;16344560;16452507;16601204;16923391;16931718;17190602;17361185;17456004;17606899;17632064;17643375;18337751;18423201;18427545;18781797;18954305;18974867;19417104;19435936;19471022;19738201;19884259;19946888;20360068;20371770;20639865;20972266;21081666;21110914;21139048;21145460;21145461;21319273;21576267;21853274;21890473;21906983;21963094;21987572;22053931;22178446;22268729;22365833;22505724;22623428;22863883;22939629;22952844;22961380;23000965;23084401;23125841;23443559;23602568;24218557;24360810;24457600;24550385;24654937;24778252;24816145;25027693;7788527 9775 I3L3H2;P38919 ABBA01015410;AC087741;AK290608;AMYH02034100;BC003662;BC004386;BC011151;CA428254;CH471099;CR456750;CR749455;D21853;DA667983;NM_014740;X79538 AAH03662;AAH04386;AAH11151;BAA04879;BAF83297;CAA56074;CAG33031;EAW89584;EAW89585;NP_055555;P38919 Hs.389649 1677264;1775084;2173856;5015619;5020946;5037552 D11S3114;D17S2053;D8S2279;L17971;RH25336;RH36128 DDX48;DKFZp686O16189;KIAA0111;MGC10862;MUK34;NMP265;NUK-34;NUK34;RCPS;eIF4AIII;hNMP265 ATP-dependent RNA helicase DDX48;ATP-dependent RNA helicase eIF4A-3;DEAD (Asp-Glu-Ala-Asp) box polypeptide 48;DEAD box protein 48;NMP 265;eIF-4A-III;eIF4A-III;eukaryotic initiation factor 4A-III;eukaryotic initiation factor 4A-like NUK-34;eukaryotic translation initiation factor 4A, isoform 3;hNMP 265;nuclear matrix protein 265 APPROVED protein-coding ENSG00000141543 HGNC:18683 06482 268305;608546 REVIEWED 3255139 EIF4BP6 eukaryotic translation initiation factor 4B pseudogene 6 7 7 7 q22.2 99113931 99117782 + 104308180 104312032 + 104667733 104671585 + 645579 ABBA01057970;AC079796;AMYH02016462;CH236947;NG_005592 1795760 EIF4E_1193 pseudo HGNC:37939 INFERRED 1601810 EIF4E1B eukaryotic translation initiation factor 4E family member 1B ENCODES a protein that exhibits translation initiation factor activity (inferred); INVOLVED IN regulation of translation (inferred); translational initiation (inferred); PARTICIPATES IN insulin signaling pathway; mTOR signaling pathway; FOUND IN mRNA cap binding complex (ortholog); INTERACTS WITH (+)-catechin; 3-methylcholanthrene (ortholog); phorbol 13-acetate 12-myristate (ortholog) 5 5 5 q35.2 172426610 172442576 - 176057683 176073642 + 176630682 176646641 + 6907045;6480464 14702039;15372022;16191198;16344560;8889548 253314 A6NMX2;D6RHE2;H0Y8X3 ABBA01033484;ABBA01033485;AC091934;AK094270;AMYH02012817;AMYH02012818;BM709255;DA689940;DR008159;DR731203;NM_001099408;XM_006714838 A6NMX2;NP_001092878;XP_006714901 Hs.448362 FLJ36951 OTTHUMP00000223378;OTTHUMP00000223380;eukaryotic translation initiation factor 4E type 1B protein-coding ENSG00000175766 HGNC:33179 VALIDATED 3498763 EIF4BP8 eukaryotic translation initiation factor 4B pseudogene 8 3 3 3 q21.1 120789283 120790592 + 122379460 122380768 + 122660613 122661921 + 22566498 339881 ABBA01016467;AC092908;AMYH02007542;NG_022269 pseudo HGNC:37941 INFERRED 1348644 EIF4E2 eukaryotic translation initiation factor 4E family member 2 ENCODES a protein that exhibits poly(A) RNA binding; ubiquitin protein ligase binding; INVOLVED IN negative regulation of translation; PARTICIPATES IN insulin signaling pathway; mTOR signaling pathway; FOUND IN mRNA cap binding complex; INTERACTS WITH atrazine; copper(2+) sulfate; ethyl methanesulfonate 2 2 2 q37.1 227179671 227198211 + 233414762 233448354 + 232550052 232583645 + 1298632;6480464;6907045 9653160 11042152;12477932;14623119;14702039;15094042;15153109;15489334;16189514;16344560;17289916;17353931;17368478;17369309;17979178;19060904;19615732;20379614;20467438;20531386;21079520;21139048;21832049;21890473;22751931;23443559;23940030;23991149;24250222;24255178;24408918;9582349 9470 B4E1E4;B8ZZ50;B8ZZL3;B9A023;B9A044;C9JEL3;H7BZH2;O60573;Q53RG0;Q59FE1 AB209519;ABBA01002017;ABBA01002018;AC073254;AC092165;AC093383;AF038957;AF047695;AF068117;AK022518;AK027239;AK303802;AMYH02005988;BC000360;BC005392;BC005874;BC021226;BC021690;BG029258;BG913475;BM018173;CB994873;CD684451;CH471063;DA201209;DA408433;DA592245;DA992544;NM_001276336;NM_001276337;NM_001282958;NM_004846;W80980;XM_005246975;XR_427124 AAC18565;AAC19374;AAC39871;AAH05392;AAH05874;AAH21226;AAH21690;AAY24105;BAD92756;BAG51083;BAG64756;EAW71007;EAW71008;EAW71009;EAW71010;NP_001263265;NP_001263266;NP_001269887;NP_004837;O60573;XP_005247032 Hs.292026 1767214;1847648;1850605 RH46922;SGC33929;SHGC-32234 4E-LP;4EHP;EIF4EL3;IF4e OTTHUMP00000164355;OTTHUMP00000203680;OTTHUMP00000203681;OTTHUMP00000203682;OTTHUMP00000203683;OTTHUMP00000203684;OTTHUMP00000203685;OTTHUMP00000203687;eIF-4E type 2;eIF4E type 2;eIF4E-like cap-binding protein;eIF4E-like protein 4E-LP;eukaryotic translation initiation factor 4E homologous protein;eukaryotic translation initiation factor 4E member 2;eukaryotic translation initiation factor 4E type 2;eukaryotic translation initiation factor 4E-like 3;mRNA cap-binding protein 4EHP;mRNA cap-binding protein type 3 protein-coding ENSG00000135930 HGNC:3293 05798 605895 VALIDATED 3231891 EIF4BP9 eukaryotic translation initiation factor 4B pseudogene 9 X X X q12 65641524 65643327 - 65294384 65296187 - 66074542 66076345 - 100129692 ABBA01067086;AL139276;AMYH02039617;NG_022999 pseudo HGNC:37942 INFERRED 1315118 EIF4B eukaryotic translation initiation factor 4B ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cellular protein metabolic process (inferred); gene expression (inferred); insulin receptor signaling pathway (inferred); PARTICIPATES IN mTOR signaling pathway; FOUND IN cytosol (inferred); eukaryotic translation initiation factor 4F complex (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; arsenous acid 12 12 12 q13.13 53047026 53083725 + 53399942 53435993 + 53006158 53042209 + 1580863;6480464;6484113;6907045 10585411;10672017;11274152;12477932;12489981;12588972;12885229;14702039;14968112;15071500;15078951;15302935;15314020;15342556;16281055;16286006;16763566;17081983;17361185;17620599;18719248;19167051;19322201;19369421;19542561;19615732;2016328;20360068;20462248;20562859;21044950;21139048;21145461;21427765;21743057;21840318;21906983;21987572;21994950;22113938;22268729;22863883;22939629;23000965;23084401;23184937;23398456;23749639;23813671;2390971;24063684;24135829;24244333;24250222;24337577;24657165;24816145;24829357;6722878;8125298;8139536;8182051;8816444 1975 B4DS13;E7EX17;F8VP89;F8VRU1;F8VSC7;F8VX11;F8VYE9;F8W0K0;P23588 AB076839;ABBA01008309;ABBA01008310;ABBA01008311;ABBA01008312;AC068888;AF119854;AK092188;AK222528;AK293731;AK299329;AK299510;AK299526;AK307496;AK310244;AK312187;AMYH02026508;AMYH02026509;AMYH02026510;BC001097;BC007745;BC013994;BC047302;BC061907;BC064029;BC073139;BC073154;BC098437;BG547613;BP236621;BP243230;BU431305;BU902688;CH471054;CR456958;CR627377;DC403237;NM_001300821;NM_001417;X55733;XM_005268709;XM_006719274 AAF69608;AAH01097;AAH73139;AAH73154;AAH98437;BAB82380;BAD96248;BAG35120;BAG57157;BAG61335;BAG61463;BAG61475;CAA39265;CAG33239;CAH10474;EAW96657;NP_001287750;NP_001408;P23588;XP_005268766;XP_006719337 Hs.648394;Hs.702041 1747727;1795760;5016478;5037552;5113198;5117176;5118252;5125085 D16S2650;D8S2279;DXS6986E;EIF4E_1193;G64236;GDB:434012;GDB:451628;RH68256 EIF-4B;PRO1843 OTTHUMP00000241569;OTTHUMP00000241570;OTTHUMP00000241599 protein-coding ENSG00000063046 HGNC:3285 04892 603928 VALIDATED 2816792 EIF4BP7 eukaryotic translation initiation factor 4B pseudogene 7 X X X q23 111340503 111344366 - 110860882 110864744 - 111617654 111621516 - 643873 AL589880;AMYH02040238;NG_022961 1795760 EIF4E_1193 pseudo HGNC:37940 INFERRED 2881097 EIF4BP5 eukaryotic translation initiation factor 4B pseudogene 5 16 16 16 32106934 32108734 - 47598995 47600795 - 47565084 47566884 - 100421528 ABBA01013751;AC007599;AMYH02031976;NG_022504 pseudo HGNC:37938 INFERRED 6484021 EIF4EBP1P2 eukaryotic translation initiation factor 4E binding protein 1 pseudogene 2 22 22 q12 8148296 8149122 + 24348399 24349225 + 768328 ABBA01055124;AP000351;NG_005781 pseudo HGNC:44047 INFERRED 1348355 EIF4EBP1P1 eukaryotic translation initiation factor 4E binding protein 1 pseudogene 1 14 14 14 q11.2 1753254 1754061 + 21887759 21888566 + 21419600 21420407 + 326295 ABBA01061245;AL161747;AMYH02028838;NG_002547;NG_021249 EIF4EBP1P APPROVED pseudo HGNC:20160 INFERRED 1350854 EIF4EBP2P1 eukaryotic translation initiation factor 4E binding protein 2 pseudogene 1 20 20 20 q13.11 38759041 38759723 - 42051552 42052234 - 43422912 43423594 - 170510 ABBA01052612;AL031681;AMYH02037111;NG_001034 EIF4EBP2P;dJ862K6.3 APPROVED pseudo HGNC:16596 INFERRED 1351027 EIF4E2P1 eukaryotic translation initiation factor 4E family member 2 pseudogene 1 20 20 20 p11.23 20714411 20714687 + 20640332 20640608 + 20659688 20659964 + 128770 ABBA01054091;AL078634;AMYH02036807;NG_005202 EIF4EL4;dJ1049G11.3 eukaryotic translation initiation factor 4e member 2 pseudogene 1 pseudo HGNC:16237 INFERRED 7377944 EIF4EBP2P3 eukaryotic translation initiation factor 4E binding protein 2 pseudogene 3 6 6 6 q16.1 99270732 99271912 - 98626536 98627716 - 98178660 98179840 - 100190924 ABBA01014503;AL590727;AMYH02014171;NG_008683 pseudo HGNC:49318 INFERRED 732833 EIF4E eukaryotic translation initiation factor 4E The protein encoded by this gene is a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5' end of cellular mRNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the mRNA. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 4 4 4 q21-q25 97096811 97149290 - 99799607 99851786 - 98878456 98930635 - 1580863;6480464;6484113;6907045 10022874;10364159;10394359;10405182;10600798;10648556;10698949;10753870;10772338;10856257;10870064;10880459;10910074;11072066;11154262;11401917;11408474;11500381;11553333;11575918;11605658;11771728;11847216;11879179;11959093;12071973;12089333;12105188;12138083;12151318;12167712;12169454;12186496;12189553;12239292;12374671;12438698;12477932;12482586;12554669;12588972;12588975;12691746;12775419;12781867;12897141;12918105;12975586;1384058;14558943;14645512;14673156;14732354;14990584;15094042;15122903;15153109;15220445;15247416;15355912;15361857;15371741;15375804;15487973;15489334;15542544;15767663;15809305;15840819;15878868;15897904;15956551;15961545;16023599;16112647;16124648;16189514;16242075;16271312;16281055;16332685;16341674;16540463;16541103;16648488;16699599;16720573;1672854;16739988;1674733;16756390;16798736;16824195;17010208;17074885;17203162;17245113;17254965;17316564;17353931;17357517;1736299;17524464;17601486;17631896;17638893;17667941;17689990;17724079;17786246;17855553;18234281;18250159;18343217;18423201;18479935;18593934;18614538;18719964;18789325;18805096;18957614;19020722;19060904;19114552;19122207;19134194;1916814;19188486;19244480;19261348;19262567;19289374;19367274;19383915;19440045;19483468;19556253;19560264;19603014;19615732;19776122;19850923;19850929;1993647;20053821;20101233;2016328;20224576;20359850;20360068;20379614;20421305;20427534;20434207;20499137;20537983;20652449;20655307;20686366;21047768;21088106;21139048;21145089;21159249;21238947;21320304;21334199;21389327;21415224;21661078;21750861;21798997;21832049;21876152;21883093;21890473;21913890;21941146;21963094;21964297;21987572;21988832;21995271;22216185;22397984;22456335;22457629;22505724;22509910;22556409;22586265;22614784;22623428;22684010;22748716;22759308;22797067;22851180;22863883;22872150;22902403;22939629;23000965;23079111;23100465;23277284;23359369;23410891;23467026;23471078;23472659;23547259;23588929;23665580;23665581;23667251;23737503;23831578;23883783;23901100;23974830;24052408;24211447;24239466;24250222;24345331;24363449;24491247;24722188;24814906;24845562;25025927;25049413;3112145;3469651;7590282;7651417;7665584;7782323;7935836;8449919;8505316;8521827;8662663;8816458;8939971;9155017;9330633;9372926;9418880;9593750;9607624;9628874;9873047;9878069 1977 D6RBW1;D6RFJ3;H0Y8J7;P06730;Q32Q75;X5D7E3 ABBA01063663;ABBA01063664;ABBA01063665;AC019131;AC093836;AJ844638;AK300982;AMYH02009795;AV708571;BC012611;BC035166;BC043226;BC107715;BM849222;CA419184;CH471057;CS060531;DC388666;HC742040;HI923841;HI927571;KJ534830;M15353;NM_001130678;NM_001130679;NM_001968;XM_006714126;XM_006714127 AAC13647;AAH12611;AAH35166;AAH43226;AAI07716;ABM81654;ABM84829;AHW56470;BAH13387;CAI79364;CBL95069;CBY65608;CBY65610;EAX06077;EAX06078;EAX06079;EAX06080;EAX06081;NP_001124150;NP_001124151;NP_001959;P06730;XP_006714189;XP_006714190 Hs.249718 1672166;1678445;1686374;1794798 PMC56953P1;RH92334;RH99170;SHGC-31816 AUTS19;CBP;EIF4E1;EIF4EL1;EIF4F;MGC111573;eIF-4E OTTHUMP00000219701;OTTHUMP00000219702;OTTHUMP00000219703;OTTHUMP00000219704;OTTHUMP00000219705;eIF-4F 25 kDa subunit;eukaryotic translation initiation factor 4E-like 1;mRNA cap-binding protein APPROVED protein-coding HGNC:3287 00591 133440;615091 VALIDATED 1348241 EIF4E3 eukaryotic translation initiation factor 4E family member 3 EIF4E3 belongs to the EIF4E family of translational initiation factors that interact with the 5-prime cap structure of mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed 15153109]).[supplied by OMIM, Mar 2008] 3 3 3 p14 71659031 71734517 - 71728440 71803924 - 71679289 71754773 - 6480464 12477932;15153109;16344560;19322201;20434207;23333304;23431134;23587918 317649 C9J6E5;C9J7Z6;C9JUY2;Q8N5X7 ABBA01030936;ABBA01030937;AC096970;AC097634;AC134770;AK126999;AK313656;AL161983;AMYH02007049;AMYH02007050;AMYH02007051;AMYH02007052;BC022303;BC031289;BC068443;BX648727;CH471055;DA227887;DA394405;DN990553;DR159502;NM_001134649;NM_001134650;NM_001134651;NM_001282886;NM_173359 AAH31289;AAH68443;BAG36410;BAG54418;EAW65503;EAW65504;NP_001128121;NP_001128122;NP_001128123;NP_001269815;NP_775495;Q8N5X7 Hs.581355 1298160;1667464;1668744;1687736;1733822;1735094;1757539;1857067;2120318;2136774;2137300;2164700;5092950;7184878 A008Y36;A009C45;D3S1487;D3S2775E;D3S3551;G32431;RH65929;RH80253;SHGC-144969;SHGC-77104;SHGC-77105;SHGC-77114;WI-21047 MGC39820;MGC86971;eIF-4E3;eIF4E-3 OTTHUMP00000213497;OTTHUMP00000213498;OTTHUMP00000213524;OTTHUMP00000213525;OTTHUMP00000213527;eIF-4E type 3;eIF4E type 3;eukaryotic translation initiation factor 4E member 3;eukaryotic translation initiation factor 4E type 3 APPROVED protein-coding ENSG00000163412 HGNC:31837 10687 609896 VALIDATED 1353500 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008] 8 8 8 p12 36839744 36869730 + 37888020 37917883 + 38030502 38060365 + 1625616;1580863;2308795;6480464;6484113;6907045 16885148;19339977 10022874;10092805;10198256;10364159;10405182;10608806;10698949;10713094;10753870;10772338;10779345;10942774;10971657;11069026;11114166;11146653;11280764;11438723;11553333;11605658;11691836;11777913;11847216;11865047;11909977;12071973;12080086;12105188;12150925;12150926;12151318;12271141;12477932;12588975;12604610;12618431;12665511;12665801;12747827;12759354;12820960;12912989;14507920;14673156;15066126;15094042;15153109;15178440;15459249;15467718;15489334;15542544;15767663;15809305;15854902;15927069;16098202;16098514;16109716;16169070;16189514;16242075;16271312;16648488;16652388;16715128;16798736;16824195;16837165;16873412;16899564;16983702;17081983;17114181;17200342;17254965;17316564;17353931;17386266;17502379;17601486;17604271;17653084;17693255;17699757;17724476;17991864;18029348;18030348;18051367;18280804;18337562;18337751;18384376;18439897;18442140;18660489;18668138;18701920;18708753;18722121;18810319;18922789;18957614;19036825;19107520;19211763;19244480;19271249;19336517;19360336;19367274;19428047;19429661;19533653;19541645;19574449;19603014;19648884;19834456;19850923;20090955;20133758;20304964;20372058;20532202;20609351;20621385;20671708;21046149;21067588;21071439;21366462;21460630;21576371;21661078;21750861;21784851;21798997;21841310;21900206;21913890;21914810;21922152;21964297;22110663;22142830;22178476;22184107;22216185;22248270;22457629;22493283;22578813;22586265;22641346;22652449;22690797;22918237;22977662;23082216;23100465;23175522;23340172;23451476;23547259;23640516;23707523;23814053;24030155;24131622;24206664;24211447;24255178;24307346;24401275;24403073;24722188;24780446;24816145;7651417;7935836;8083223;8521827;8816458;8957083;8975712;9092573;9344920;9405468;9465032;9628874;9806882 1978 Q13541 AB044548;ABBA01023554;ABBA01023555;AK312011;AMYH02017823;AP006545;BC004459;BC058073;BF964628;BT007162;CH471080;CR456769;JB157968;L36055;NM_004095 AAA62269;AAH04459;AAH58073;AAP35826;ABM84657;ABM92187;BAB18650;BAG34949;CAG33050;CCW44094;EAW63341;EAW63342;NP_004086;Q13541 Hs.411641 1857614 RH48253 4E-BP1;4EBP1;BP-1;MGC4316;PHAS-I OTTHUMP00000225572;eIF4E-binding protein 1;eukaryotic translation initiation factor 4E-binding protein 1;phosphorylated heat- and acid-stable protein regulated by insulin 1 APPROVED protein-coding ENSG00000187840 HGNC:3288 03746 602223 REVIEWED 1346321 EIF4EP1 eukaryotic translation initiation factor 4E pseudogene 1 20 20 20 p13 5600333 5601126 + 5529498 5530291 + 5548852 5549645 + 1916814;9468520 1980 ABBA01053880;AL109935;AMYH02036643;NG_002658 2137245 STS-R10161 EIF4EL2;dJ1022P6.3 pseudo HGNC:3292 INFERRED 1347749 EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 This gene encodes a member of the EIF4EBP family, which consists of proteins that bind to eukaryotic translation initiation factor 4E and regulate its assembly into EIF4F, the multi-subunit translation initiation factor that recognizes the mRNA cap structure. Read-through transcription from the neighboring upstream gene (MASK or ANKHD1) generates a transcript (MASK-BP3) that encodes a protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Oct 2010] 5 5 5 q31.3 136004002 136005914 + 139927251 139929163 + 140547666 140549578 + 1580863;6480464 11865047;12477932;12482586;14507920;14557257;15153109;15489334;16189514;16271312;17316564;19615732;19946888;20621385;21088106;21145461;22684010;23443559;24722188;9593750 8637 O60516 ABBA01026426;AC011399;AF038869;AMYH02012339;BC010881;BC069293;BC073751;CH471062;NM_003732 AAC39761;AAH10881;AAH69293;AAH73751;EAW62056;NP_003723;O60516 Hs.594084 1651430;1735456;1773378;1773380;1792176;2107035;5492603 A001T37;D5S1582E;EIF4EBP3_7925;G19635;PMC138568P1;UniSTS:481777;WI-14182 4E-BP3;4EBP3 OTTHUMP00000159879;eIF4E-binding protein 3;eukaryotic initiation factor 4E-binding protein 3;eukaryotic translation initiation factor 4E-binding protein 3 APPROVED protein-coding ENSG00000243056 HGNC:3290 09149 603483 REVIEWED 1321948 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 This gene encodes a member of the eukaryotic translation initiation factor 4E binding protein family. The gene products of this family bind eIF4E and inhibit translation initiation. However, insulin and other growth factors can release this inhibition via a phosphorylation-dependent disruption of their binding to eIF4E. Regulation of protein production through these gene products have been implicated in cell proliferation, cell differentiation and viral infection. [provided by RefSeq, Oct 2008] 10 10 10 q21-q22 65444292 65468805 + 72163861 72188374 + 70404105 70428618 + 1580863;6480464 10092805;11069026;11847216;11865047;12151318;12477932;14507920;14702039;15153109;15489334;16271312;16385451;16751776;16798736;17316564;18789325;19244480;19322201;19913121;20424163;20628086;20628624;21661078;23824909;24206664;24722188;24816145;7651417;7935836;8939971;8975712;9344920;9381973;9465032;9531283 1979 Q13542;Q6FG68 ABBA01019626;AC022532;AK001936;AK057643;AK313724;AMYH02023287;BC005057;BC015007;BC050633;BG717474;BT007317;CH471083;CR542240;CR627373;DQ583065;GM704530;L36056;NM_004096 AAA62270;AAH05057;AAH50633;AAP35981;ABM84031;ABM87376;BAG36466;CAG47036;CAT01881;EAW54400;EAW54401;EAW54402;NP_004087;Q13542 Hs.621200;Hs.730236 1660873;1662637;1663682;1687984;1776528;1795758;2150714;2177109;2182564;2183396;2183638;5024039 A001U33;D10S1294E;D10S1560;D10S2180;D16S325;EIF4EBP2_623;RH44583;SGC34484;SHGC-30283;SHGC-54611;WI-14658;WIAF-2085 4E-BP2;4EBP2;PHASII OTTHUMP00000019756;eIF4E-binding protein 2;eukaryotic translation initiation factor 4E-binding protein 2;phosphorylated, heat and acid stable regulated by insulin protein II APPROVED protein-coding ENSG00000148730 HGNC:3289 03747 602224 REVIEWED 7375922 EIF4EBP2P2 eukaryotic translation initiation factor 4E binding protein 2 pseudogene 2 15 15 15 q15.2 19638537 19641618 - 42870830 42873908 - 42578632 42581710 - 100190923 ABBA01038366;AC018362;AMYH02030287;NG_008682 pseudo HGNC:49317 INFERRED 1347903 EIF4H eukaryotic translation initiation factor 4H This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 69068153 69090994 + 73588706 73611429 + 74174376 74197099 + 1580597;1580863;6480464 8812460 10585411;11003705;11418588;12477932;12588972;12665801;12690205;12853948;15078951;15489334;15592455;16014927;16094384;16189514;18448541;18719248;19203580;19369421;19738201;19847924;19946888;20360068;20473909;20549515;21139048;21427765;21906983;22505724;22863883;22939629;23776612;24250222;24816145;7584026;7584028;9516461 7458 Q15056;Q75MU2 ABBA01063907;ABBA01063908;AC005057;AC005081;AF045555;AK290676;AK297651;AK314749;AMYH02016039;BC010021;BC021214;BC066928;CH471200;D26068;NG_008869;NM_022170;NM_031992 AAC04859;AAF75557;AAH10021;AAH21214;AAH66928;AAS07403;AAS07439;AAS07440;ABM82850;ABM86037;ABM86038;BAA05063;BAF83365;BAG60018;EAW69615;EAW69616;EAW69617;EAW69618;EAW69619;NP_071496;NP_114381;Q15056 Hs.520943 1668764;1685706;1723143;1790423;2112378;2189273 D7S3017E;D7S3283;RH123755;RH40639;SHGC-5607;Wbscr1 KIAA0038;WBSCR1;WSCR1;eIF-4H OTTHUMP00000160561;OTTHUMP00000160563;Williams-Beuren syndrome chromosome region 1;williams-Beuren syndrome chromosomal region 1 protein APPROVED protein-coding ENSG00000106682 HGNC:12741 11940 603431 REVIEWED 7252986 EIF4HP1 eukaryotic translation initiation factor 4H pseudogene 1 7 7 7 p15.2 27484930 27487415 - 27495991 27498476 - 27456372 27458857 - 401316 ABBA01056771;AC073150;AMYH02015415;CH236948;NG_004756 pseudo HGNC:49035 INFERRED 1322792 EIF4G3 eukaryotic translation initiation factor 4 gamma, 3 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cytokine-mediated signaling pathway (inferred); positive regulation of meiosis I (inferred); positive regulation of protein phosphorylation (inferred); PARTICIPATES IN myocarditis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol (inferred); eukaryotic translation initiation factor 4F complex (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 1 1 1 p36.12 19458712 19828225 - 21132785 21503381 - 20806292 21176888 - 1580863;6480464;6907045;8554872 10022874;10737800;10872469;11172724;12477932;12663812;12975586;14507913;15016848;15146197;15361857;15489334;16344560;16964243;17081983;17353931;18654987;19615732;19805454;20020773;20379614;21139048;21182205;21890473;21900206;21906983;21963094;22505724;22586326;22939629;22990118;23000965;24639526;24816145;8125298;9418880;9857202;9878069 8672 B1AN89;B1AN91;B1AN92;B4DXR2;O43432;Q59GJ0;Q5SWD0 AB209119;ABBA01059796;ABBA01059797;ABBA01059798;ABBA01059799;ABBA01059800;ABBA01059801;ABBA01059802;ABBA01059803;ABBA01059804;AF012072;AK225489;AK294883;AK302087;AK302873;AK310195;AL031005;AL358392;AL606477;AL627311;AL672037;AMYH02000434;AMYH02000435;AMYH02000436;AMYH02000437;AMYH02000438;AMYH02000439;AMYH02000440;AMYH02000441;AMYH02000442;AMYH02000443;BC030578;BC072413;BC094683;BC136643;BC144335;BE159364;BF084093;CH471134;CN402454;DB042721;DB096818;HI574178;NM_001198801;NM_001198802;NM_001198803;NM_003760;Z34918 AAC02903;AAH30578;AAH94683;AAI36644;BAD92356;BAG57978;BAG63474;BAG64053;CAA84397;CBX47578;EAW94954;EAW94955;EAW94956;NP_001185730;NP_001185731;NP_001185732;NP_003751;O43432 Hs.467084;Hs.732241 1662548;1665105;1674531;1683229;1687421;1693534;1702264;1702404;1720741;1732824;1756319;1765693;1769649;1772443;1773025;1795764;1850236;1858277;2125745;2127061;2182663;2185372 AL009398;AL010001;D1S1269;EIF4G3_1535;G29258;G59344;RH11036;RH75500;RH80398;SHGC-143302;SHGC-149132;SHGC-34622;SHGC-58447;SHGC-74327;SHGC-74329;SHGC-74335;SHGC-74336;SHGC-74337;SHGC-74345;SHGC-74355;UniSTS:99222;UniSTS:99311 eIF-4G 3;eIF4G 3;eIF4GII OTTHUMP00000002722;OTTHUMP00000002723;eIF-4-gamma 3;eIF-4-gamma II;eukaryotic translation initiation factor 4 gamma 3 protein-coding ENSG00000075151 HGNC:3298 06802 603929 VALIDATED 1320332 EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1 The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 22 22 22 q11.2 15635833 15686382 - 31835345 31885936 - 31439359 31489950 - 1580863;6480464 10856257;12477932;14651998;14702039;15345747;15461802;15489334;15840819;16147992;16157702;16189514;16343815;16344560;16699599;16713569;17314511;17567994;18029348;18343217;19060904;19850929;19946888;22094256;22505724;22751931;22966201;23443559;23902945;23991149;24255178;24335285;24722188 56478 B0QYZ7;B1AKL4;B1AKL5;B1AKL6;B4DR76;H7C0J7;Q9NRA8 AA609351;ABBA01055332;ABBA01055333;AF240775;AK025254;AK074768;AK130061;AK299136;AK314636;AL096701;AMYH02038238;AMYH02038239;BC012734;BC032941;BC033028;CH471095;CR456386;DA336484;DQ655937;DQ656044;NM_001164501;NM_001164502;NM_019843;XM_005261686;XM_005261687;XM_005261688;XM_006724281;XM_006724282;XM_006724283;XM_006724284 AAF81693;AAH12734;AAH32941;AAH33028;ABM83407;ABM86618;BAB15092;BAC11194;BAG37198;BAG61188;CAG30272;CAK54376;CAK54675;EAW59977;EAW59978;EAW59979;NP_001157973;NP_001157974;NP_062817;Q9NRA8;XP_005261743;XP_005261744;XP_005261745;XP_006724344;XP_006724345;XP_006724346;XP_006724347 Hs.517559 1706490;1735056;1797496;1799966;1804688;1805456;1805576;1806176;1807424;1807950;1808164;1808940;1809832;1811438;1811612;1812988;1813526;1814674;1816744;1818216;1818356;1818786;1819306;1819706;1820112;1822702;1824314;1825330;1826060;1828962;1829822;1830736;1831320;1831630;1832418;1832706;1832902;1833030;1833858;1834298;1835248;1835932;1839942;1840056;1840858;1844368;1844440;1845198;1845228;1845330;1846384;2006084;2006086;2006088;2006090;2006092;2006094;2006096;2006098;2006100;2006102;2006104;2006106;2006108;2006110;2006112;2006114;2006116;2006118;2006120;2006122;2006124;2006126;2006128;2006130;2006132;2006134;2006136;2006138;2006140;2006142;2006144;2006146;2006148;2006150;2006152;2006154;2006156;2006158;2006160;2006162;2006164;2006166;2006168;2006170;2006172;2006174;2006176;2006178;2006180;2006182;2006184;2006186;2006188;2006190;2006192;2006194;2006196;2006198;2006200;2006202;2006204;2006206;2006208;2006210;2006212;2006214;2006216;2006218;2006220;2006222;2006224;2006226;2006228;2006230;2006232;2006234;2006236;2006238;2006240;2006242;2006244;2006246;2006248;2006250;2006252;2006254;2006256;2006258;2006260;2006262;2006264;2006266;2006268;2006270;2006272;2006274;2006276;2006278;2006280;2006282;2006284;2006286;2006288;2006290;2006292;2006294;2006296;2006298;2006300;2006302;2006304;2006306;2006308;2006310;2006312;2006314;2006316;2006318;2006320;2006322;2006324;2006326;2006328;2006330;2006332;2006334;2006336;2006338;2006340;2006342;2006344;2006346;2006348;2006350;2006352;2006354;2006356;2006358;2006360;2006362;2006364;2006366;2006368;2006370;2006372;2006374;2006376;2006378;2006380;2006382;2006384;2006386;2006388;2006390;2006392;2006394;2006396;2006398;2006400;2006402;2006404;2006406;2006408;2006410;2006412;2006414;2006416;2006418;2006420;2006422;2006424;2006426;2006428;2006430;2006432;2006434;2006436;2006438;2006440;2006442;2006444;2006446;2006448;2006450;2006452;2006454;2006456;2006458;2006460;2006462;2006464;2006466;2006468;2006470;2006472;2006474;2006476;2006478;2006480;2006482;2006484;2006486;2006488;2006490;2006492;2006494;2006496;2006498;2006500;2006502;2006504;2006506;2097394;2097396;2097398;2097400;2097402;2097404;2097406;2097408;2097410;2097412;2097414;2097416;2097418;2097420;2097422;2097424;2097426;2097428;2097430;2097432;2097434;2097436;2097438;2097440;2097442;2097444;2097446;2097448;2097450;2097452;2097454;2097456;2097458;2097460;2097462;2097464;2097466;2153180;2176047 A002U33;D22S1105;D22S990E;ECD00837;ECD03276;ECD03676;ECD03736;ECD04042;ECD04683;ECD04950;ECD05063;ECD05453;ECD05908;ECD06717;ECD06809;ECD07508;ECD07784;ECD08367;ECD09416;ECD10165;ECD10235;ECD10457;ECD10720;ECD10920;ECD11129;ECD12439;ECD13255;ECD13771;ECD14139;ECD15608;ECD16044;ECD16504;ECD16796;ECD16952;ECD17348;ECD17494;ECD17592;ECD17656;ECD18075;ECD18297;ECD18779;ECD19127;ECD21154;ECD21212;ECD21622;ECD23398;ECD23434;ECD23816;ECD23831;ECD23882;ECD24412;EIF4ENIF1_2319;REN73958;REN73959;REN73960;REN73961;REN73962;REN73963;REN73964;REN73965;REN73966;REN73967;REN73968;REN73969;REN73970;REN73971;REN73972;REN73973;REN73974;REN73975;REN73976;REN73977;REN73978;REN73979;REN73980;REN73981;REN73982;REN73983;REN73984;REN73985;REN73986;REN73987;REN73988;REN73989;REN73990;REN73991;REN73992;REN73993;REN73994;REN73995;REN73996;REN73997;REN73998;REN73999;REN74000;REN74001;REN74002;REN74003;REN74004;REN74005;REN74006;REN74007;REN74008;REN74009;REN74010;REN74011;REN74012;REN74013;REN74014;REN74015;REN74016;REN74017;REN74018;REN74019;REN74020;REN74021;REN74022;REN74023;REN74024;REN74025;REN74026;REN74027;REN74028;REN74029;REN74030;REN74031;REN74032;REN74033;REN74034;REN74035;REN74036;REN74037;REN74038;REN74039;REN74040;REN74041;REN74042;REN74043;REN74044;REN74045;REN74046;REN74047;REN74048;REN74049;REN74050;REN74051;REN74052;REN74053;REN74054;REN74055;REN74056;REN74057;REN74058;REN74059;REN74060;REN74061;REN74062;REN74063;REN74064;REN74065;REN74066;REN74067;REN74068;REN74069;REN74070;REN74071;REN74072;REN74073;REN74074;REN74075;REN74076;REN74077;REN74078;REN74079;REN74080;REN74081;REN74082;REN74083;REN74084;REN74085;REN74086;REN74087;REN74088;REN74089;REN74090;REN74091;REN74092;REN74093;REN74094;REN74095;REN74096;REN74097;REN74098;REN74099;REN74100;REN74101;REN74102;REN74103;REN74104;REN74105;REN74106;REN74107;REN74108;REN74109;REN74110;REN74111;REN74112;REN74113;REN74114;REN74115;REN74116;REN74117;REN74118;REN74119;REN74120;REN74121;REN74122;REN74123;REN74124;REN74125;REN74126;REN74127;REN74128;REN74129;REN74130;REN74131;REN74132;REN74133;REN74134;REN74135;REN74136;REN74137;REN74138;REN74139;REN74140;REN74141;REN74142;REN74143;REN74144;REN74145;REN74146;REN74147;REN74148;REN74149;REN74150;REN74151;REN74152;REN74153;REN74154;REN74155;REN74156;REN74157;REN74158;REN74159;REN74160;REN74161;REN74162;REN74163;REN74164;REN74165;REN74166;REN74167;REN74168;REN74169;SHGC-81136;stSG602040;stSG602041;stSG602042;stSG602043;stSG602044;stSG602045;stSG602046;stSG602047;stSG602048;stSG602049;stSG602050;stSG602051;stSG602052;stSG602053;stSG602054;stSG602055;stSG602056;stSG602057;stSG602058;stSG602059;stSG602060;stSG602061;stSG602062;stSG602063;stSG602064;stSG602065;stSG602066;stSG602067;stSG602068;stSG602069;stSG602070;stSG602071;stSG602072;stSG602073;stSG602074;stSG602075;stSG602076 4E-T;Clast4;FLJ21601;FLJ26551 2610509L04Rik;OTTHUMP00000028884;OTTHUMP00000063275;OTTHUMP00000063276;OTTHUMP00000063277;eIF4E transporter;eIF4E-transporter;eukaryotic translation initiation factor 4E transporter APPROVED protein-coding ENSG00000184708 HGNC:16687 10456 607445 REVIEWED 7253953 EIF4HP2 eukaryotic translation initiation factor 4H pseudogene 2 22 22 22 15098277 15098901 + 31298141 31298765 + 30902154 30902778 + 100421545 ABBA01055313;AC004542;AMYH02038224;NG_027477 pseudo HGNC:49036 INFERRED 1317562 EIF5A eukaryotic translation initiation factor 5A ENCODES a protein that exhibits poly(A) RNA binding; protein N-terminus binding; RNA binding; INVOLVED IN apoptotic process; mRNA export from nucleus; nucleocytoplasmic transport; FOUND IN annulate lamellae; cytoplasm; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 17 17 17 p13-p12 7236257 7241723 + 7210318 7215782 + 7306999 7312463 + 6480464 10229683;10381392;10944119;11161802;11238447;11742107;11790298;11870779;12210765;12477932;12562768;12687616;12788913;1286667;12894223;14622290;15231747;15303967;15371445;15489334;16354571;16371467;16452303;16515720;16519677;16522190;16712791;16842744;16916647;16987817;17008552;17187778;17213197;17578650;18067580;1850732;18781797;1900436;19149558;19160416;19322201;19379712;19471022;19825182;19946888;19998337;20232312;20360068;20639865;20830705;20942800;21139048;21145461;21224998;21360055;21565611;21693764;21778671;21890473;21906983;21942715;21963094;22053931;22304920;22354994;22505724;22771473;22863883;22908221;22927971;22939629;22944692;23000965;23132580;23322277;23383273;23402259;23539416;23733422;23862649;23991020;24220243;24250222;24402910;24491565;24509416;24778252;24816145;2492279;3095320;7545941;7578077;7622067;7759117;7929297;7971969;8125298;8253832;8596953;9285095;9285100;9442029;9465063 1984 AAB29229;I3L397;I3L504;P63241 ABBA01054859;ABBA01054860;AC026954;AF087992;AF376057;AK222585;AK292615;AMYH02032897;AY129319;AY129320;AY129321;AY129322;BC000751;BC001832;BC030160;BC080196;BC085015;BC107779;BG479628;CB111036;CH471108;M23419;NM_001143760;NM_001143761;NM_001143762;NM_001970;U17969;XM_005256509 AAA58453;AAA86989;AAB29229;AAH00751;AAH01832;AAH30160;AAH80196;AAH85015;AAI07780;AAL40917;AAN17514;AAN17515;AAN17516;AAN17517;AAN17518;ABM83199;ABM86400;BAF85304;EAW90219;EAW90220;EAW90221;EAW90222;NP_001137232;NP_001137233;NP_001137234;NP_001961;P63241;XP_005256566 Hs.534314 5016702;5124500 RH39404;RH67341 EIF-5A;EIF5A1;MGC104255;MGC99547;eIF-4D;eIF-5A-1;eIF-5A1;eIF5AI OTTHUMP00000128384;eukaryotic initiation factor 5A;eukaryotic translation initiation factor 5A-1;rev-binding factor protein-coding ENSG00000132507 HGNC:3300 02555 600187 VALIDATED 1314674 EIF5A2 eukaryotic translation initiation factor 5A2 ENCODES a protein that exhibits ribosome binding (inferred); translation elongation factor activity (inferred); INVOLVED IN positive regulation of cell proliferation; FOUND IN cytosol (inferred); endoplasmic reticulum (inferred); nuclear pore (inferred); INTERACTS WITH all-trans-retinoic acid; calcitriol; copper atom 3 3 3 q26.2 169006103 169026325 - 170606204 170626426 - 170888415 170908637 - 1580863;6480464 11161802;11325856;12477932;14622290;15205331;15489334;15635413;16169419;16189514;16452303;16519677;16916647;17876542;17949776;19054548;19155439;19298601;20112425;20434207;20639865;21139048;21145461;21319273;21813470;21890473;21903422;21906983;21942715;21963094;21988832;22053931;22505724;22927971;23000965;23891004;24178756;24250246;24262005;24504366;24561231;24583282;24816145 56648 C9J4W5;C9J7B5;F8WCJ1;Q9GZV4 ABBA01058670;AC061708;AF293386;AF293387;AK311962;AMYH02008127;AMYH02008128;AY205258;AY205259;AY205260;AY205261;BC034420;BC036072;CH471052;NM_020390 AAG23176;AAH36072;AAO18676;AAO18677;AAO18678;AAO18679;ABM81891;ABM85064;BAG34902;EAW78501;NP_065123;Q9GZV4 Hs.164144 1677818;1717395;1795766;2121784;2142015;5022578;5109281 D1S1423;D1S1425;EIF5A2_327;RH122188;RH93402;SHGC-77528;SHGC-77529 EIF-5A2;eIF5AII OTTHUMP00000213742;OTTHUMP00000213744;OTTHUMP00000213745;eIF-5A-2;eukaryotic initiation factor 5A;eukaryotic translation initiation factor 5A-2 protein-coding ENSG00000163577 HGNC:3301 10426 605782 VALIDATED 1343057 EIF5AL2 eukaryotic translation initiation factor 5A-like 2 414248 HGNC:31441 1352580 EIF5AL1 eukaryotic translation initiation factor 5A-like 1 ENCODES a protein that exhibits ribosome binding (inferred); translation elongation factor activity (inferred); INVOLVED IN mRNA transport (inferred); peptidyl-lysine modification to peptidyl-hypusine (inferred); positive regulation of translational elongation (inferred); FOUND IN endoplasmic reticulum (inferred); nuclear pore (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4,6-trinitrotoluene (ortholog); 2,4-dinitrotoluene (ortholog) 10 10 10 q22.3 1620 2122 - 81272357 81276196 + 79512601 79516440 + 6480464 10944119;11742107;12477932;1286667;15489334;16519677;16916647;20639865;21139048;21890473;21906983;21963094;22053931;22505724;23000965;23891004;2492279;3095320;7545941;7622067;7759117;8253832 143244 Q6IS14 ABBA01020208;ABBA01020209;AC068139;AL133481;AMYH02023401;BC070048;NM_001099692;S72024 AAD14095;AAH70048;NP_001093162;Q6IS14 Hs.104825 5016702;5108870;5124495;5124500 D10S680;RH39404;RH67341;RH93153 EIF5AP1;bA342M3.3 OTTHUMP00000227584;eIF-5A-1-like;eIF-5A1-like;eukaryotic initiation factor 5A isoform 1-like;eukaryotic translation initiation factor 5A pseudogene 1;eukaryotic translation initiation factor 5A-1-like protein-coding ENSG00000253626 HGNC:17419 VALIDATED 736122 EIF5 eukaryotic translation initiation factor 5 Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010] 14 14 14 q32.32 83854670 83865542 + 103800339 103811362 + 103334002 103345025 + 1580863;6480464;8554872 10805737;10982835;11092890;11230166;11331597;11861906;12477932;12569173;14702039;15489334;16227438;16584190;16781736;17081983;17207965;18029348;19738201;19953087;20562859;21139048;21832049;21890473;21906983;21963094;21988832;22062548;22412018;22813744;22863883;22939629;23222517;23293029;24319994;24816145;8663286;9395514;9973622 1983 H0YK11;H0YK29;H0YLZ1;H0YM54;H0YMJ8;H0YN40;P55010;Q6IBU0 ABBA01048430;ABBA01048431;AK026933;AK027240;AK074470;AK293712;AL080102;AL138976;AMYH02029922;BC000106;BC007728;BC015630;BC032866;BC041083;BC107884;BF979642;BI459720;BX429104;BX537367;CH471061;CR456712;CR627002;DB458085;NM_001969;NM_183004;U49436 AAC50572;AAH07728;AAH15630;AAH32866;AAI07885;ABM84408;ACE86854;ACE87541;ADQ32772;BAB15593;BAG57144;CAB45711;CAD97610;CAG32993;EAW81808;EAW81809;EAW81810;EAW81811;NP_001960;NP_892116;P55010 Hs.433702;Hs.741278 1645041;1671999;1675047;1722071;1736386;2150710;2162871;2164953;2175863;5016834;5494201 A008J11;D14S1233;D14S640E;D14S692E;D14S908;Eif5;G60074;RH44070;RH48354;WI-18248;WI-19954 EIF-5;EIF-5A eukaryotic initiation factor 5 (eif-5) APPROVED protein-coding ENSG00000100664 HGNC:3299 03417 601710 VALIDATED 1353172 EIF5AP1 eukaryotic translation initiation factor 5A pseudogene 1 q23.3 10944119;11742107;1286667;15489334;16519677;16916647;2492279;3095320;7545941;7622067;7759117;8253832 1985 AC068139;AL133481;NG_000859;S72024 AAD14095 pseudo HGNC:3302 1350217 EIF5AP2 eukaryotic translation initiation factor 5A pseudogene 2 17 17 17 q25.3 72749841 72751617 + 76153440 76155216 + 78157359 78159135 + 7545941;7759117 1986 ABBA01002942;AC021593;AMYH02034048;NG_002746;S72038 pseudo HGNC:3303 VALIDATED 1314591 EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition of the mRNA cap and the ATP-dependent unwinding of 5'-terminal secondary structure is catalyzed by factors in this complex. The subunit encoded by this gene is a large scaffolding protein that contains binding sites for other members of the EIF4F complex. A domain at its N-terminus can also interact with the poly(A)-binding protein, which may mediate the circularization of mRNA during translation. Alternative splicing results in multiple transcript variants, some of which are derived from alternative promoter usage. [provided by RefSeq, Aug 2010] 3 3 3 q27.1 182472966 182494042 + 184032283 184053146 + 184314495 184335358 + 6480464;6907045;8699517;7240710;8554872 10205060;10523622;10600798;10753870;10859165;10872469;10880459;10970864;10996799;11154262;11331597;11340157;11408474;11606767;11821405;11866104;12052860;12054647;12054764;12071973;12086624;12149653;12239292;12477932;12505164;12581158;12682023;12897141;1429670;14592777;14610163;14701818;14702039;15047801;15128869;15153109;15193258;15220445;15231748;15234964;15302935;15314020;15314025;15361857;15452223;15592455;15713657;15743837;15755734;15885108;15897904;15961545;16009940;16010989;16156639;16169070;16236269;16281055;16344560;16412378;16513844;16541103;16556936;16648488;16698552;16720573;16766523;16964243;16982693;17053147;17081983;17130132;17195095;17266347;17290396;17353931;17361185;17601486;18250159;18296639;18426977;18508616;18573886;18593934;18614538;18631141;18799579;19114555;19203580;19525934;19596686;19615732;19648179;19716330;19738201;19769989;19850929;19946888;19956697;20020773;20028737;20053821;20360068;20398343;21139048;21145461;21182205;21252943;21377182;21454508;21576361;21840318;21890473;21900206;21906983;21907011;21964297;21988832;22108332;22145905;22178476;22280895;22431630;22505724;22509910;22561553;22586265;22586326;22623428;22658323;22707335;22759308;22772876;22863883;22909319;22939629;23000965;23041282;23079111;23092605;23112151;23124435;23261770;23263986;23408866;23409027;23490116;23562511;23617574;23726718;23805307;23840900;23862649;23901100;24063684;24092755;24248602;24250222;24583282;24639526;24816145;24818994;24843127;25049413;7601469;7651417;7935836;8396129;8449919;8521827;8889548;8961935;9002667;9139875;9372926;9418880;9755181;9857202;9878069 1981 B2RU06;B2RU10;B4DSI9;C9J2Z7;C9J556;C9J6B6;C9J987;C9JF13;C9JHW9;C9JIH5;C9JSU8;C9JWH7;C9JWH9;C9JWW9;C9K073;E7EUU4;E7EX73;E9PGM1;F8WB97;F8WCF2;H7C044;H7C0V6;O95065;Q04637;Q96I65 AB210013;ABBA01058448;ABBA01058449;AC078797;AF002815;AF002816;AF004836;AF104913;AF281070;AJ001046;AK096719;AK128378;AK131407;AK226160;AK294567;AK299763;AK308319;AL832754;AMYH02008305;AY082886;BC007788;BC010688;BC065256;BC082764;BC140892;BC140896;BG177454;BM475154;BQ011010;BT007282;BU176883;BU683097;BU944064;BX647812;CH471052;CR980540;CX165113;D12686;DA456156;DB088474;DC347118;DC369776;NG_016850;NM_001194946;NM_001194947;NM_001291157;NM_004953;NM_182917;NM_198241;NM_198242;NM_198244 AAC78442;AAC78443;AAC78444;AAC82471;AAH07788;AAI40893;AAI40897;AAL92872;AAM69365;AAP35946;BAA02185;BAD18554;BAE06095;BAG57762;BAG61651;CAA04500;CAI46013;EAW78257;EAW78258;EAW78259;EAW78260;EAW78261;EAW78262;EAW78263;EAW78264;EAW78265;EAW78266;EAW78267;EAW78268;NP_001181875;NP_001181876;NP_001278086;NP_004944;NP_886553;NP_937884;NP_937885;NP_937887;Q04637 Hs.433750 1337221;1676876;1745027;2130023;2217302;5117622 D3S3609;EIF4G1_3109;GDB:593083;GDB:593094;RH68199;RH79680 DKFZp686A1451;EIF4F;EIF4G;EIF4GI;P220;PARK18;eIF-4G 1;eIF-4G1 EIF4-gamma;OTTHUMP00000210577;OTTHUMP00000210579;OTTHUMP00000210583;OTTHUMP00000210585;OTTHUMP00000210586;OTTHUMP00000210587;OTTHUMP00000210588;OTTHUMP00000210589;OTTHUMP00000210595;OTTHUMP00000210602;OTTHUMP00000210603;OTTHUMP00000233293;OTTHUMP00000233411;eIF-4-gamma 1;eucaryotic translation initiation factor 4G;eukaryotic translation initiation factor 4 gamma 1 APPROVED protein-coding ENSG00000114867 HGNC:3296 06774 600495;614251 REVIEWED 5509672 EIF4EP2 eukaryotic translation initiation factor 4E pseudogene 2 17 17 17 q21.33 43955672 43957316 - 47500652 47502297 - 49423290 49424935 - 21987572 100131693 ABBA01041208;AC091180;AMYH02033575;CH471109;NG_023334 EAW94679 pseudo HGNC:32428 INFERRED 1344071 EJM1 epilepsy, juvenile myoclonic 1 ASSOCIATED WITH Epilepsy, Absence (inferred); Myoclonic Epilepsy, Juvenile (inferred) 7240710 1988 HGNC:3305 254770;607631 1349631 EJM2 epilepsy, juvenile myoclonic 2 ASSOCIATED WITH Myoclonic Epilepsy, Juvenile (inferred) 7240710 9259280 50715 1336480;1341048;7187524;7187979 D15S118;D15S144 HGNC:3306 604827 1345242 EKV erythrokeratodermia variabilis 9843209 1989 HGNC:3307 1343249 EIF5AP3 eukaryotic translation initiation factor 5A pseudogene 3 19 19 19 q13.2 42436065 42436622 + 45631783 45632340 + 45128525 45129082 + 7545941;7759117 1987 ABBA01040912;AC011489;AMYH02036191;NG_002725;S72026 pseudo HGNC:3304 INFERRED 1345697 EIF5AP4 eukaryotic translation initiation factor 5A pseudogene 4 10 10 q23.1 82006775 82007553 - 80247019 80247797 - 642592 ABBA01003804;AL359195;AL513174;AMYH02023415;NG_006529 5108870 D10S680 EIF5AL3 APPROVED pseudo HGNC:31442 INFERRED 1313238 EIF4G2 eukaryotic translation initiation factor 4 gamma, 2 Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G that contains the binding sites for eIF4A and eIF3; eIF4G, in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G, which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. In vitro and in vivo studies indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 11 11 11 p15 10940190 10952258 - 10818593 10830582 - 10797046 10809035 - 1580863;6480464;6907045 10394359;10611228;11172724;11175261;11331597;11511540;11943866;12477932;12505164;12665801;12703993;14507913;14702039;15016848;15231748;15302935;15361857;15489334;15718103;16166382;16289705;16344560;16410684;16751776;16932749;17195095;17237356;17353931;18450493;18491231;18722383;19615732;19738201;19769989;19946888;20057060;20467438;20544972;21139048;21145461;21890473;21906983;21963094;21988832;22505724;22555068;22623428;22909319;22939629;23000965;23318444;24497838;24816145;25027693;8125298;9027506;9032289;9049310;9372926;9418880;9878069 1982 D3DQV9;E9PKF8;H0Y3P2;H0YCF8;H0YCH5;H0YD77;H0YD99;H0YDC0;H0YE22;H0YE44;H0YE87;H0YEC5;H0YEI7;H0YEN8;H0YEW3;P78344;Q2TU89 AB063323;AB073654;AB209267;ABBA01061154;AC116535;AI362365;AK123338;AK223548;AK302886;AK310387;AK310738;AMYH02024329;AY513274;BC014930;BC018746;BC018975;BC039851;BC043149;BC065276;BC111415;BC111548;BX647799;CH471064;DB072494;DB231980;DB272352;NM_001042559;NM_001172705;NM_001418;U73824;U76111;X89713 AAB49973;AAC51166;AAH14930;AAH18746;AAH18975;AAH39851;AAH43149;AAH65276;AAI11416;AAI11549;AAT08027;BAB93515;BAD92504;BAD97268;BAE45728;BAG64064;CAA61857;EAW68552;EAW68553;EAW68554;EAW68555;NP_001036024;NP_001166176;NP_001409;P78344 Hs.183684 1737101;1739201;1791258;1795762;2150742;5491705;5493902 D11S2865;D11S3958;EIF4G2_325;Eif4g2;MARC_8851-8852:992359168:1;MARC_8853-8854:992364778:1;STS-AA009836 AAG1;DAP-5;DAP5;FLJ41344;NAT1;P97;eIF-4G 2;eIF4G 2 OTTHUMP00000231076;OTTHUMP00000231227;OTTHUMP00000231228;OTTHUMP00000231229;aging-associated protein 1;death-associated protein 5;eIF-4-gamma 2;eukaryotic translation initiation factor 4 gamma 2;eukaryotic translation initiation factor 4G-like 1 APPROVED protein-coding ENSG00000110321 HGNC:3297 09084 602325 REVIEWED 1313362 EIF6 eukaryotic translation initiation factor 6 Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 20 20 20 q12 30615330 30621199 - 33866709 33872619 - 35278906 35284816 - 1580863;6480464;6907045;8554872 10085284;10348637;10906324;11042152;11290417;11780052;11790298;12477932;12917340;14654845;15122657;15146197;15231747;15489334;15592455;15635413;15946946;16169070;16341674;16530192;17353931;17507929;17569113;18029348;18327211;18391951;18624398;18781797;19056867;19738201;20546612;20585627;21029697;21084295;21139048;21145461;21536732;21832049;21900206;21903422;21963094;21988832;22178446;22295858;22348144;22365962;22415777;22586326;22863883;22939629;22990118;23115272;23752268;24457600;24778252;9374518;9405604;9653160;9740680 3692 B7ZBH1;F8WD20;F8WDS6;P56537 AB062289;ABBA01019165;AF022229;AF047433;AF289541;AF401207;AK296076;AK314969;AL121753;AL537456;AMYH02036997;BC001119;BC011845;BC019305;BC095465;BG283650;BG334381;BM794263;BM851166;BQ222221;CH471077;CN265282;CR456764;CS072464;CT002623;DB448068;NG_023238;NM_001267810;NM_002212;NM_181466;NM_181468;NR_052022;NR_052023;NR_052024;Y11435 AAB97735;AAC39897;AAH01119;AAH11845;AAH19305;AAK39426;ABM83518;ABM86737;BAB93472;BAG37470;BAG58832;CAA72243;CAG33045;CAI93602;EAW76219;EAW76220;EAW76221;NP_001254739;NP_002203;NP_852131;NP_852133;P56537 Hs.743992 1771904;1800446;1803862;1805564;1808854;1810232;1844670;1972414;1972416;1972418;1972420;1972422;1972424;1972426;1972428;1972430;1972432;1972434;1972436;1972438;1972440;1972442;1972444;1972446;1972448;1972450;1972452;1972454;1972456;1972458;1972460;1972462;1972464;1972466;1972468;1972470;1972472;1972474;1972476;1972478;1972480;2133314;2215030;2215032;2215034;2215036;2215038;2215040;2215042 D20S461;ECD01083;ECD02843;ECD03730;ECD05410;ECD06108;ECD23549;REN57092;REN57093;REN57094;REN57095;REN57096;REN57097;REN57098;REN57099;REN57100;REN57101;REN57102;REN57103;REN57104;REN57105;REN57106;REN57107;REN57108;REN57109;REN57110;REN57111;REN57112;REN57113;REN57114;REN57115;REN57116;REN57117;REN57118;REN57119;REN57120;REN57121;REN57122;REN57123;REN57124;REN57125;SHGC-32768;stSG636500;stSG636501;stSG636502;stSG636503;stSG636504;stSG636505;stSG636506 CAB;EIF3A;ITGB4BP;b(2)gcn;eIF-6;gcn;p27(BBP);p27BBP B4 integrin interactor;OTTHUMP00000030734;OTTHUMP00000061360;OTTHUMP00000061361;b(2)GCN homolog;eukaryotic translation initiation factor 3A;p27 beta-4 integrin-binding protein APPROVED protein-coding ENSG00000242372 HGNC:6159 04221 602912 REVIEWED 1312386 ELAC1 elaC ribonuclease Z 1 ENCODES a protein that exhibits endoribonuclease activity, producing 5'-phosphomonoesters (inferred); metal ion binding (inferred); INVOLVED IN RNA phosphodiester bond hydrolysis, endonucleolytic (inferred); tRNA 3'-trailer cleavage (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; potassium chromate 18 18 18 q21 45351172 45371275 + 48494387 48514491 + 50968017 50988120 + 1580863;6480464;8554872 11175785;11401430;12477932;12711671;14702039;15489334;18573253;21559454;22610502;8125298 55520 K7EIJ1;K7EPH7;Q9H777 AB029151;ABBA01018682;AC087687;AF308695;AI870985;AK024822;AK223507;AK310911;AMYH02034708;BC014624;CH471096;NG_013013;NM_018696 AAG24917;AAH14624;ABM83711;ABM87031;BAA96799;BAB15021;BAD97227;EAW62983;EAW62984;NP_061166;Q9H777 Hs.657360 1677434;1734542;2107037;2187525 D18S897E;ELAC1__7576;RH45926;SGC38219 D29;FLJ59261 OTTHUMP00000163547;RNase Z 1;RNaseZ(S);deleted in Ma29;elaC homolog 1;elaC homolog protein 1;ribonuclease Z 1;tRNA 3 endonuclease 1;tRNA 3' processing endoribonuclease;tRNA Z (short form);tRNase Z 1;tRNase ZS;zinc phosphodiesterase ELAC protein 1 APPROVED protein-coding ENSG00000141642 HGNC:14197 16275 608079 VALIDATED 1353401 EIF5B eukaryotic translation initiation factor 5B Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 94158503 94221412 + 99953821 100016728 + 99337358 99400265 + 1580863;6480464 10200264;10432305;11699879;12477932;12514125;12569173;14702039;15302935;16097034;16964243;17081983;17161026;17361185;17568775;18572216;19135240;19738201;20195357;20211142;20562859;21139048;21145461;21151833;21697471;21890473;21907836;21926972;21963094;22108332;22113938;22586326;22678362;22863883;22939629;22990118;23000965;24250222;24639526;24816145;8621719;9872452 9669 O60841;Q8N5A0 AB018284;ABBA01073946;ABBA01073947;ABBA01073948;AC018690;AC079447;AF078035;AJ006412;AJ006776;AK001386;AK308175;AK308176;AL133563;AMYH02004400;AMYH02004401;BC006970;BC022260;BC032639;BX485839;CH471127;NM_015904;XM_005264075 AAD16006;AAH06970;AAH22260;AAH32639;AAX93258;AAY24313;BAA34461;BAG50898;CAA07018;CAB44357;CAB63717;EAX01864;EAX01865;EAX01866;EAX01867;NP_056988;O60841;XP_005264132 Hs.158688 1647931;1652452;1666151;1710872;1719203;2126311;2138904;2178007;2185658;5021187 A007F15;D2S2085;RH123320;RH36408;RH41971;RH45200;RH46976;RH65673;SHGC-56859;SHGC-84214 DKFZp434I036;FLJ10524;IF2;KIAA0741;eIF-5B OTTHUMP00000203504;translation initiation factor IF-2;translation initiation factor IF2 APPROVED protein-coding ENSG00000158417 HGNC:30793 07304 606086 REVIEWED 1342597 ELAC2 elaC ribonuclease Z 2 The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 17 p11.2 12920244 12946689 - 12894929 12921381 - 12991612 13018064 - 6480464;8699517;7240710;8554872 10986046;11175785;11254448;11254449;11281413;11431329;11507049;11522646;12373607;12384782;12477932;12515253;12522685;12552947;12569551;12700765;12711671;12783937;12949798;14504198;14625808;14702039;14719475;15368467;15489334;15593091;15714208;15824169;16114055;16169070;16636667;17081983;17145810;17353931;18375959;18421255;18767027;18781797;19471022;19555350;19751732;20086112;20119870;20231859;20565774;20877624;21145461;21559454;21593607;21693764;21857155;21890473;21906983;21963094;22505724;22863883;23849775;24654937;24816145;25027693;8889548 60528 E7ES68;G5E9D5;H7C2I4;J3QL08;J3QLK4;J3QQT1;J3QRS2;Q9BQ52;V9GYS7;V9GYU5;V9GZ72 AA706335;ABBA01055013;ABBA01055014;AC005277;AF304369;AF304370;AF304371;AK001392;AK074244;AK094012;AK094333;AK094687;AK124838;AK125030;AK298397;AK300011;AK304589;AMYH02033013;AMYH02033014;BC001939;BC004158;BC046924;CB241821;CH471108;CR457261;DB455960;DC394013;DC411088;NG_015808;NM_001165962;NM_018127;NM_173717 AAG24439;AAG24440;AAG24441;AAH01939;AAH04158;ADZ15517;BAC85964;BAC86026;BAG52861;BAG52912;BAG60631;BAG61827;BAG65377;CAG33542;EAW89961;EAW89962;EAW89963;EAW89964;NP_001159434;NP_060597;NP_776065;Q9BQ52 Hs.434232 1652440;1677102;1694438;1718695;1722391;1736636;1852621;5015961;5022322;5037552 D11S2560;D15S1477;D17S1477E;D8S2279;G42927;G60268;RH123038;RH18245;RH45714;STS-D29176 COXPD17;ELC2;FLJ10530;FLJ36693;FLJ42848;HPC2 OTTHUMP00000064669;OTTHUMP00000064670;RNase Z 2;elaC homolog 2;elaC homolog protein 2;heredity prostate cancer protein 2;putative prostate cancer susceptibility protein HPC2/ELAC2;ribonuclease Z 2;tRNA 3 endonuclease 2;tRNase Z (long form);tRNase Z 2;zinc phosphodiesterase ELAC protein 2 2293362;2293416;2301719 PRSTS280_H;PRSTS282_H;PRSTS419_H APPROVED protein-coding HGNC:14198 05641 605367;614731;615440 REVIEWED 1314763 ELAVL2 ELAV like neuron-specific RNA binding protein 2 The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 9 9 9 p21 23612711 23748673 - 23690097 23826342 - 23690099 23826344 - 1580863;6480464;8554872 10848602;12384599;12477932;15164053;15489334;15671036;17289661;18607064;19197348;20020773;20211142;20818722;21139048;21145461;21319273;21890473;21963094;22053931;23000965;23512105;24457600;24778252;7828887;7972035;8158249;8812435;8907704 1993 B1AM48;B1AM49;C9JB16;Q12926 AB209294;ABBA01065154;ABBA01065155;AL161628;AL445623;AMYH02019306;AMYH02019307;BC030692;BC035004;BC042393;CH471071;NG_016425;NM_001171195;NM_001171197;NM_004432;U13706;XM_005251390;XM_005251391;XM_005251392;XM_005251393;XM_005251394;XM_005251395;XM_006716733;XM_006716734;XM_006716735;XM_006716736;XM_006716737;XM_006716738 AAA69537;AAH30692;ABM82543;ABM85735;ABW03448;BAD92531;EAW58581;EAW58582;EAW58583;EAW58584;EAW58585;EAW58586;NP_001164666;NP_001164668;NP_004423;Q12926;XP_005251447;XP_005251448;XP_005251449;XP_005251450;XP_005251451;XP_005251452;XP_006716796;XP_006716797;XP_006716798;XP_006716799;XP_006716800;XP_006716801 Hs.166109 1709094;1712563;1729027;1761963;1848613;2107039;2113244;2113246;2168973;5492311 D9S1966;D9S2020;D9S2139;D9S2140;ELAVL2__7577;Elavl2;Elavl4;SHGC-145897;SHGC-85698;U29088 HEL-N1;HELN1;HUB ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B);ELAV-like neuronal protein 1;ELAV-like neuronal protein 1 isoform Hel-N2;ELAV-like protein 2;OTTHUMP00000021157;OTTHUMP00000021158;OTTHUMP00000021159;OTTHUMP00000021160;hu-antigen B;nervous system-specific RNA-binding protein Hel-N1 APPROVED protein-coding ENSG00000107105 HGNC:3313 03396 601673 REVIEWED 1318543 ELAVL1 ELAV like RNA binding protein 1 The protein encoded by this gene is a member of the ELAVL family of RNA-binding proteins that contain several RNA recognition motifs, and selectively bind AU-rich elements (AREs) found in the 3' untranslated regions of mRNAs. AREs signal degradation of mRNAs as a means to regulate gene expression, thus by binding AREs, the ELAVL family of proteins play a role in stabilizing ARE-containing mRNAs. This gene has been implicated in a variety of biological processes and has been linked to a number of diseases, including cancer. It is highly expressed in many cancers, and could be potentially useful in cancer diagnosis, prognosis, and therapy. [provided by RefSeq, Sep 2012] 19 19 19 p13.2 7894704 7941773 - 8023457 8070529 - 7958573 8005645 - 1580863;6480464;8554872 10079173;10629032;10660597;10848602;10964780;11018049;11729309;11834731;11971974;12011088;12237300;12242302;12431987;12477932;12730239;12821781;12855701;12933794;14517280;14517288;14530362;14559993;14562043;14702039;14715706;14981248;14981256;15037768;15175342;15231747;15257295;15328200;15342649;15371446;15489334;15514971;15635413;15824116;15848144;15861128;15914670;16009940;16109718;16135804;16159877;16170373;16196087;16289864;16455966;16484227;16494882;16581801;16788138;16820934;16890199;16912169;16935932;16990552;17081983;17132932;17178712;17237228;17317627;17332742;17383427;17392515;17486080;17517897;17531241;17534146;17548472;17581403;17599736;17626845;17643375;17878526;17932509;17967866;18027256;18051367;18094611;18095988;18180367;18202756;18279945;18285462;18317686;18408768;18449856;18463097;18490444;18498284;18505733;18544151;18579691;18593881;18641687;18644987;18648668;18650551;18705402;18769129;18781797;18824170;18831511;18986664;18991684;19009247;19010922;19029303;19056930;19088191;19106619;19109971;19114552;19151756;19221430;19252527;19255485;19281587;19289500;19322201;19379695;19420963;19520857;19528229;19561594;19574298;19647848;19648294;19671677;19728080;19738201;19750561;19805546;19875930;19913121;19917608;19931428;19946888;20000738;20018854;20020773;20086103;20102719;20219472;20219773;20305372;20332213;20351266;20353946;20370918;20421296;20459669;20587520;20626035;20628086;20675370;20692039;20696395;20724828;20739277;20889954;20951677;20960565;21046284;21102524;21139048;21145461;21152064;21161467;21163940;21206905;21220697;21273615;21310943;21317874;21343335;21443519;21498545;21503589;21543858;21572400;21596928;21613615;21627034;21646354;21723170;21723171;21768308;21795698;21858080;21859890;21862584;21890473;21890634;21906983;21935886;21963094;21971048;21988832;21994574;22049153;22053931;22086295;22086907;22095636;22178446;22212710;22258704;22310293;22354994;22362742;22365833;22368252;22371495;22426177;22436134;22445740;22446626;22505724;22544606;22562506;22576182;22586326;22674407;22810585;22829587;22906436;22907529;22915590;22921787;22939629;22983828;23000965;23028944;23052832;23115237;23125841;23127556;23151878;23155001;23176121;23223443;23269677;23376935;23394580;23398456;23401122;23430747;23455922;23516604;23519412;23528537;23572284;23605320;23618873;23686487;23722602;23814050;23825951;23837869;23873103;23889148;23894643;23901138;23969235;24036660;24086407;24106086;24163370;24210824;24244333;24260469;24326307;24332808;24362034;24390237;24398589;24416409;24457600;24536047;24550385;24591637;24687854;24816145;24826067;24865968;25015289;25027693;8626503;8889548;9003489 1994 M0QZR9;M0R055;Q15717 ABBA01010872;ABBA01010873;AC008975;AC010336;AI375368;AK022334;AK096659;AK301013;AL713686;AMYH02035412;AMYH02035413;AW139417;BC003376;BM664469;BM696191;BT009793;BU542524;BX647856;CH471139;JA327536;KF456492;KF511285;NM_001419;U38175;W37464;XR_430131 AAB41913;AAH03376;AAP88795;ABW03336;ABW03681;BAG62630;CCA78939;EAW68949;EAW68950;NP_001410;Q15717 Hs.184492;Hs.713744 1646405;1669947;1733372;1739907;2138872;2148434;2165807;5037552 A002T18;A002V04;D17S1185;D19S1135;D19S847;D8S2279;NIB1428;SHGC-34332 ELAV1;HUR;Hua;MelG ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R);ELAV-like protein 1;Hu antigen R;embryonic lethal, abnormal vision, drosophila, homolog-like 1;hu-antigen R APPROVED protein-coding ENSG00000066044 HGNC:3312 16025 603466 REVIEWED 734281 ELF1 E74-like factor 1 (ets domain transcription factor) This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] 13 13 13 q13 22563467 22650954 - 41506055 41635544 - 40931919 41061408 - 1580863;6480464;8554872 10207087;10377039;10976766;11210123;11884456;12477932;12727645;14702039;14970218;1527846;15302935;1545787;16464244;16964243;17652178;18029348;18314487;18378679;18692240;18714041;19471022;19624906;19674970;19822898;20346215;20379614;20600580;20972266;21044949;21811762;21867680;21890473;21931859;22505724;23266558;23273568;24816145;7862168;8493578;8756667;9094628;9524226;9668064 1997 P32519;Q5T9E7;Q6MZZ4 ABBA01021283;ABBA01021284;ABBA01021285;ABBA01021286;AK095466;AK304289;AL157877;AMYH02027914;AMYH02027915;AMYH02027916;AMYH02027917;BC010575;BC030507;BQ722965;BX640798;CH471075;DC418141;M82882;NM_001145353;NM_172373;XM_005266276;XM_005266277 AAH30507;ABM82635;ABM85812;BAG53061;BAG65147;CAE45881;EAX08640;EAX08641;NP_001138825;NP_758961;P32519;XP_005266333;XP_005266334 Hs.135646 1656342;1663004;1665022;1684888;1849142;2119654;2154942 D13S307;G17772;RH44562;RH46566;RH68759;SGC34734;STS-M82882 ETS-related transcription factor Elf-1;OTTHUMP00000018310 APPROVED protein-coding ENSG00000120690 HGNC:3316 01808 189973 REVIEWED 8162430 ELDR EGFR long non-coding downstream RNA p11.2 16344560;24381249 102725541 DB084610;NR_110426 Hs.590524 Fabl;LINC01156 APPROVED ncrna HGNC:49511 VALIDATED 1317469 ELANE elastase, neutrophil expressed Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins. The product of this gene hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix following the protein's release from activated neutrophils. The enzyme may play a role in degenerative and inflammatory diseases by its proteolysis of collagen-IV and elastin of the extracellular matrix. This protein degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes, at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, May 2009] 19 19 19 p13.3 777442 781374 + 850989 856246 + 850989 856246 + 1598891;1580863;6480464;6907045;7240710;8554872;8699517 10581030 10102815;10471600;10512713;10702419;10859319;10867014;10924364;10978167;11001877;11389039;11520773;11675333;11846296;11907569;11928814;11948122;12020136;12042033;12068293;12083479;12091371;12114510;12117418;12183836;12189154;12190311;12223522;12393522;12444202;12477932;12483111;12526812;12531874;12538645;12700588;12745650;12771009;12778173;12782302;12853121;12876407;12887060;12893759;12933574;12934194;14587040;14636558;14673143;14688365;14705961;14730209;14962902;15010259;15059607;15131125;15140022;15161642;1518849;15245434;15489334;1558967;15595387;15601827;15614130;15657182;15718918;15892999;15941909;16079102;16127146;16148149;16244764;16282197;16321984;16551967;16624642;16670064;16690986;17023068;17088257;17187068;17395013;17397908;17412886;17436313;17622939;17690184;17761833;17785837;17853021;17998887;18028488;18043239;18178964;18194283;18211966;18278188;18295791;18399311;18403643;18476621;18485588;1859409;18669870;18710383;18799464;18980523;19056867;19132232;19180801;19197381;19251947;19307610;19362143;19415009;19506020;19542452;19590686;19620298;19620402;19763368;19775295;19789190;20007580;20033193;20111696;20179351;20301705;20346360;20354035;20376727;20411049;20423453;20453419;20521180;20582973;20627279;20634941;20646231;20803142;20828556;20883273;20932306;20974816;21193404;21206270;21236472;21425445;21448199;21475777;21477798;21488974;21576245;21605276;2164060;21731773;21796505;21843618;22174830;22407864;22500123;22683569;22915586;22918834;22993338;22996420;23001948;2318847;2322278;23351986;23392769;23454784;23463630;23564510;23692169;23741370;23819644;24023624;24052258;24184683;2437112;2462434;24848868;2501794;2538548;2681419;2775493;2822677;2902087;2911584;3391280;3422232;3427074;3479752;3550808;3640709;6980881;7521069;7713495;8011628;8463250;8718849;8864963;9111002;9124593;9242537;9565572 1991 P08246 ABBA01002604;AC004799;AC112706;AC212840;AMYH02035125;AMYH02035126;AY596461;BC074816;BC074817;BI254663;CH471139;D00187;J03545;M20199;M20200;M20201;M20202;M20203;M27783;M34379;NG_009627;NM_001972;X05875;XM_005259517;XM_006725397;Y00477 AAA35792;AAA36173;AAA36359;AAA52378;AAH74816;AAH74817;AAS89303;BAA00128;CAA29299;CAA29300;CAA68537;EAW69589;NP_001963;P08246;XP_005259574;XP_006725460 Hs.99863 2174984;2174986 RH47200;RH77978 ELA2;GE;HLE;HNE;NE;PMN-E;SCN1 PMN elastase;bone marrow serine protease;elastase 2, neutrophil;elastase-2;granulocyte-derived elastase;human leukocyte elastase;leukocyte elastase;medullasin;neutrophil elastase;polymorphonuclear elastase APPROVED protein-coding ENSG00000197561 HGNC:3309 00554 130130;162800;202700 REVIEWED 1626593 ELF2P1 E74-like factor 2 pseudogene 1 X X X q22.2 103599077 103602018 - 103163329 103166270 - 103908408 103911350 - 9001422 100101917 ABBA01032853;ABBA01032854;AC234782;AC253567;NG_006555;Z70273 pseudo HGNC:33539 INFERRED 1343972 ELAVL3 ELAV like neuron-specific RNA binding protein 3 A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 11456881 11486541 - 11562143 11591806 - 11451326 11481046 - 1580863;6480464;8554872 10079173;10710437;10848602;12209604;12384599;12477932;15489334;16189514;21110914;21163940;21890473;7511893;9799595 1995 K7EPB5;Q14576 ABBA01029847;ABBA01029848;ABBA01029849;ABBA01029850;ABBA01029851;ABBA01029852;AC008481;AI199100;AL512714;AMYH02035530;AY034002;AY036909;BC011875;BC014144;BC080533;BI117592;CH471106;D26158;KF456502;L26405;NM_001420;NM_032281;XM_005259812;XM_006722682;XM_006722683 AAA58677;AAH11875;AAK57545;AAK67714;BAA21838;CAC21655;EAW84220;EAW84221;NP_001411;NP_115657;Q14576;XP_005259869;XP_006722745;XP_006722746 Hs.1701 1748577;2107041;2116072;2124015;2181767 ELAVL3__7578;RH15993;RH36000;SHGC-110240;STS-H49435 DKFZp547J036;HUC;HUCL;MGC20653;PLE21 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C);ELAV-like protein 3;Hu antigen C;hu-antigen C;paraneoplastic cerebellar degeneration-associated antigen;paraneoplastic limbic encephalitis antigen 21 APPROVED protein-coding ENSG00000196361 HGNC:3314 16024 603458 REVIEWED 1626543 ELF2P4 E74-like factor 2 pseudogene 4 2 2 2 q32.1 180006191 180008286 - 186410449 186412544 - 185545722 185547817 - 9001422 644935 ABBA01062326;AC080125;AMYH02005395;NG_006556 pseudo HGNC:33540 INFERRED 1626562 ELF2P2 E74-like factor 2 pseudogene 2 6 6 6 p25.3 2741304 2744211 - 1512576 1515817 - 1512341 1515582 - 9001422 260335 ABBA01048647;ABBA01048648;AF256220;AL512329;AMYH02012969;NG_002340 1766195;1766317;2107045 ELF2__7580;SHGC-149560;SHGC-149664 pseudo HGNC:24610 INFERRED 1321579 ELF2 E74-like factor 2 (ets domain transcription factor) ENCODES a protein that exhibits sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; INVOLVED IN negative regulation of transcription, DNA-templated; positive regulation of transcription, DNA-templated; regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH all-trans-retinoic acid; arsenite(3-); calcitriol 4 4 4 q28 137311010 137392749 - 139978871 140098372 - 139057717 139177218 - 6480464;8554872 10207087;11967990;12447867;12477932;14970218;15302935;15489334;17290288;17368566;18029348;18544453;18754678;19322201;19471022;20211142;20805357;21693764;21832049;21890473;21906983;22505724;24992036;8756667;9001422 1998 B7Z720;D6R9B1;D6RGD9;D6RHI1;Q15723 ABBA01069945;ABBA01069946;ABBA01069947;AC024032;AC093602;AF256221;AF256222;AF256223;AK301307;AK303782;AK316455;AMYH02010193;BC034951;BC065025;BI770157;BQ221720;CH471056;DQ359746;DR000047;KF457818;NM_001276457;NM_001276458;NM_001276459;NM_006874;NM_201999;U43188;U43189;XM_005262803;XM_005262804;XM_005262805;XM_005262806;XM_006714128;XM_006714129;XM_006714130 AAB37759;AAB37760;AAB37761;AAF67195;AAF67196;AAH34951;AAH65025;ABD15131;ABM81796;ABM84952;BAH13456;BAH14050;BAH14826;EAX05123;EAX05124;EAX05125;EAX05126;NP_001263386;NP_001263387;NP_001263388;NP_006865;NP_973728;Q15723;XP_005262860;XP_005262861;XP_005262862;XP_005262863;XP_006714191;XP_006714192;XP_006714193 Hs.634040 1338041;1675903;1676892;1688261;1766195;1769601;1850384;2107045 D2S1238;ELF2__7580;RH18408;RH91402;RH93045;SHGC-149560;SHGC-67356;SHGC-67623 EU32;NERF;NERF-1A;NERF-1B;NERF-1a,b;NERF-2 ETS-related transcription factor Elf-2;OTTHUMP00000164540;OTTHUMP00000164541;OTTHUMP00000220051;OTTHUMP00000220053;ets family transcription factor ELF2C;new Ets-related factor protein-coding ENSG00000109381 HGNC:3317 16856 VALIDATED 1626561 ELF2P3 E74-like factor 2 pseudogene 3 9 9 9 q21 61001859 61004849 + 90431389 90434369 + 87816474 87819454 + 9001422 260336 ABBA01016328;AL772337;AMYH02021166;NG_002341 FLJ35866 pseudo HGNC:24611 INFERRED 1351734 ELF4 E74-like factor 4 (ets domain transcription factor) The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010] X X X q26 129585456 129631249 - 129198895 129244688 - 130064920 130110713 - 6480464 10207087;12151102;12477932;14625302;14970218;14976184;15013761;15146197;15489334;15772651;15907486;16303180;16581786;19336002;19412182;21350194;21465527;21890473;21988832;22505724;23064961;23217424;23393136;8895518;9524226 2000 B1AL80;Q99607 ABBA01047883;ABBA01047884;ABBA01047885;ABBA01047886;ABBA01047887;ABBA01047888;ABBA01047889;AF000670;AK314972;AL136450;AMYH02040472;AMYH02040473;BC017194;BC114355;BC114356;CD364651;CH471107;CN314421;DN999740;KF510162;KF510641;NG_016388;NM_001127197;NM_001421;U32645;XM_005262389;Z81363 AAB53693;AAC17452;AAH17194;ABM83160;ABM86361;EAX11813;EAX11814;NP_001120669;NP_001412;Q99607;XP_005262446 Hs.271940 1673298;1702480;1768241;2117389;2180448;5491569 AL008912;DXS7909;MARC_21518-21519:1033045704:1;RH11198;RH71459;STS-T70285 ELFR;MEF ETS-related transcription factor Elf-4;OTTHUMP00000024003;OTTHUMP00000024004;myeloid Elf-1-like factor APPROVED protein-coding ENSG00000102034 HGNC:3319 06499 300775 REVIEWED 1348119 ELAVL4 ELAV like neuron-specific RNA binding protein 4 ENCODES a protein that exhibits AU-rich element binding; INVOLVED IN mRNA processing (inferred); RNA processing (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; mitoxantrone 1 1 1 p34 48799541 48953474 + 50513686 50669442 + 50048014 50203770 + 1580863;6480464;8554872 10348344;10710437;10848602;11175903;11803489;12034726;12209604;12235292;12384599;12388589;12468554;12477932;1415481;14512168;15358174;15735910;15827745;16189514;16278682;16508003;1655278;16710414;17230446;17234598;17577668;18218628;18493953;18587682;18607064;19252764;19410329;21110914;21282516;21491091;2166930;21890473;21988832;22387028;22965691;23251661;23618873;24036060;8069866;8222755;9065557 1996 B1APY8;B1APY9;P26378 ABBA01050787;ABBA01050788;ABBA01050789;AK297338;AK298817;AK298902;AK309653;AL583843;AL592182;AL645730;AL731870;AMYH02000987;AW950943;AY033995;AY033996;AY033997;AY033998;BC036071;BM509527;BX648050;CH471059;CK005107;DB472040;DC351092;M62843;NM_001144774;NM_001144775;NM_001144776;NM_001144777;NM_001294348;NM_021952;S73887;XM_005270581;XM_006710411;XM_006710412;XM_006710413;XM_006710414;XM_006710415 AAA58396;AAD14142;AAH36071;AAK57538;AAK57539;AAK57540;AAK57541;BAH12553;BAH12876;BAH12899;EAX06841;EAX06842;EAX06843;EAX06844;EAX06845;NP_001138246;NP_001138247;NP_001138248;NP_001138249;NP_001281277;NP_068771;P26378;XP_005270638;XP_006710474;XP_006710475;XP_006710476;XP_006710477;XP_006710478 Hs.213050 1657431;1704310;1708792;1723279;1739299;2107043;2123931;2130863;2173016 AL009479;AL009829;D1S1559;D1S2299E;ELAVL4__7579;RH122329;SHGC-74804;SHGC-81055;SHGC-83296 HUD;PNEM ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D);ELAV-like protein 4;Embryonic lethal, abnormal vision, Drosophila, homolog of, like-4;Hu antigen D;OTTHUMP00000009609;OTTHUMP00000009610;OTTHUMP00000009611;OTTHUMP00000009612;OTTHUMP00000009613;OTTHUMP00000009614;hu-antigen D;paraneoplastic encephalomyelitis antigen HuD APPROVED protein-coding ENSG00000162374 HGNC:3315 01343 168360 VALIDATED 1606182 ELFN2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 ENCODES a protein that exhibits phosphatase binding; INVOLVED IN negative regulation of phosphatase activity; FOUND IN extracellular space; INTERACTS WITH copper(2+) sulfate; disodium selenite; cerium trichloride (ortholog) 22 22 22 q13.1 21564888 21624315 - 37764000 37823505 - 37367960 37427470 - 6480464 10591208;11572484;12477932;14702039;16344560;16751776;17081983;17868438;18029348;19389623;21139048;21906983;23000965 114794 Q5R3F8 AB067491;ABBA01055465;ABBA01055466;ABBA01055467;ABBA01055468;AK055475;AL049850;AMYH02038330;AMYH02038331;AMYH02038332;BC032082;BC032083;BC041596;CH471095;DA365834;DA398675;FP325335;HG512278;KF457448;NM_052906;NR_110512;XM_005261324;XM_006724123;XM_006724124;XR_244427;XR_254086;Z94160 AAI72260;AAI72561;BAB67797;EAW60159;NP_443138;Q5R3F8;XP_005261381;XP_006724186;XP_006724187 Hs.344170;Hs.660812 1655053;2149572;2153033 AL008661;D22S624;G17846 KIAA1904;LRRC62;PPP1R29;dJ63G5.3 OTTHUMP00000197827;dJ63G5.3 (putative Leucine rich protein);extracellular leucine-rich repeat and fibronectin type III containing 2;extracellular leucine-rich repeat and fibronectin type III domain-containing protein 2;leucine rich repeat containing 62;leucine-rich repeat and fibronectin type-III domain-containing protein 6;leucine-rich repeat-containing protein 62;protein phosphatase 1 regulatory subunit 29;protein phosphatase 1, regulatory subunit 29 APPROVED protein-coding ENSG00000166897 HGNC:29396 17229 VALIDATED 1314143 ELF5 E74-like factor 5 (ets domain transcription factor) The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011] 11 11 11 p13-p12 34647528 34682543 - 34500342 34535347 - 34478795 34513800 - 1580863;6480464;8554872 10506207;12359648;12477932;14702039;15342556;15489334;15655699;15987600;16189514;16229011;16344560;16554811;16704374;16713569;20211142;20354077;21787113;21900206;21988832;23086238;23279374;23300383;9570133;9840936 2001 A8K443;Q9UKW6 ABBA01060865;AF049703;AF115402;AF115403;AK074633;AK075197;AK290808;AK290817;AK312537;AL137224;AMYH02024586;BC029743;BG260616;BP358543;CH471064;CQ783285;DA630849;DQ123839;NG_029477;NM_001243080;NM_001243081;NM_001422;NM_198381 AAC79755;AAD22960;AAD22961;AAH29743;AAZ98848;ABM82063;ABM85242;BAC11101;BAF83497;BAF83506;BAG35436;BAG52081;CAF86494;EAW68168;EAW68169;NP_001230009;NP_001230010;NP_001413;NP_938195;Q9UKW6 Hs.11713 1646984;1779816;1779818 D11S4655;SHGC-153789;SHGC-153790 ESE2 ETS-related transcription factor Elf-5;OTTHUMP00000232932;OTTHUMP00000232933;OTTHUMP00000232934;epithelium-restricted ESE-1-related Ets factor;epithelium-specific Ets transcription factor 2 APPROVED protein-coding ENSG00000135374 HGNC:3320 05525 605169 REVIEWED 8548554 ELFN1-AS1 ELFN1 antisense RNA 1 7 7 p22.3 1778266 1781946 - 1738630 1742310 - 24707484 101927125 ABBA01039353;AC074389;AMYH02015057;BF665480;HO663747;HY180852;JX046910;NR_120508;NR_120509;NR_120510;XR_242117;XR_250128;XR_252154 Hs.633957 MYCLo-2 ncrna ENSG00000236081 HGNC:39071 VALIDATED 1321734 ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) ENCODES a protein that exhibits transcription coactivator activity; INVOLVED IN epithelial cell differentiation; inflammatory response; negative regulation of transcription, DNA-templated; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 q32.2 175103445 175110070 + 201979647 201986316 + 202010519 202017188 + 6480464 10064583;10391676;10773884;10821850;11036073;12032832;12119107;12242338;12414801;12477932;12624109;12708845;14582709;14715662;14767472;14997048;15025473;15075319;15169914;16344560;1651322;1651323;17060315;17148437;17353931;17491012;18029348;18044710;18302674;18475289;19074849;19471022;21693764;21871131;21906983;22082156;22158614;22993316;23329352;23435425;23687337;23867815;24374157;24971534;8125298;8889548;9129154;9234700;9336459;9395241;9417054 1999 P78545;Q5SR36 ABBA01027521;AF016295;AF017307;AF110184;AF517841;AK225446;AK309265;AK310814;AK312273;AL691482;AMYH02002487;BC003569;BM976796;BN000001;BQ023145;BX093212;BX537368;CH471067;CR457106;CV570925;CV570991;DA591406;NM_001114309;NM_004433;U66894;U73843;U73844;U97156;XM_005244942 AAB58075;AAB65823;AAB65824;AAB67238;AAB96586;AAC51884;AAD45237;AAH03569;AAM70481;ABM81617;ABM84800;BAG35203;CAD29859;CAD97611;CAG33387;EAW91388;EAW91389;EAW91390;EAW91391;NP_001107781;NP_004424;P78545;XP_005244999 Hs.603657 1335923;1672536;1791584;1847352;2178916;5124824 D6S1645;PMC115840P1;RH93327;SHGC-56937;SHGC-76134;SHGC-76170 EPR-1;ERT;ESE-1;ESX E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific);E74-like factor 3 (ets domain transcription factor);ELF3 {ECO:0000312|HGNC:HGNC:3318};ETS-related transcription factor Elf-3;OTTHUMP00000034050;OTTHUMP00000034051;OTTHUMP00000034052;OTTHUMP00000034053;epithelial-restricted with serine box;epithelium-restricted Ets protein ESX;epithelium-specific Ets transcription factor 1;ets domain transcription factor, serine box (epithelial-specific) protein-coding ENSG00000163435 HGNC:3318 03722 602191 VALIDATED 1349633 ELK1 ELK1, member of ETS oncogene family This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene produces multiple isoforms by using alternative translational start codons and by alternative splicing. Related pseudogenes have been identified on chromosomes 7 and 14. [provided by RefSeq, Mar 2012] X X X p11.2 51690183 51705266 - 47493744 47510003 - 47635520 47650604 - 1580863;6480464;6484113;6907045;7488901;7488902;7488910;7488914;8699517 15362724;17091294;20008130;20126313 10022839;10231026;10431817;10606656;10644696;10716983;10742173;10947953;10997882;11050086;11279280;11283259;11313879;11726657;11857080;12023815;12077333;12220533;12242287;12409226;12473660;12477932;12514134;12551925;12594221;12660819;12665513;12750007;12788955;12887893;12947314;14499342;14702039;14970218;14992729;15210726;15351693;15449318;1547942;15489334;15576363;15638726;15655247;15772651;15772901;15782123;15790681;15806162;15808854;15920481;15967991;16169070;16291755;16297876;1630903;16490785;16533805;17036045;17074809;17146445;17203534;17296730;17499043;17591614;17724016;17804646;17875713;17898074;17967787;18172009;18247360;18316600;18434015;18768922;19013529;19133234;19302787;19322201;19342628;19546342;19687146;19913121;20012528;20147408;20211142;20224786;20337593;20362031;20371703;20628086;20680465;20727996;20811994;21044953;21543455;21642427;21655091;21796667;21832049;21988832;22065579;22085529;22094256;22222375;22242952;22267484;22343976;22354998;22372926;22433566;22559731;22589737;22689058;23114923;23117818;23127278;23284628;23322625;23426362;23454483;23463670;23727019;23871667;23893408;23940030;24072701;24121020;24130510;2539641;7540136;7889942;7927346;8083237;8208531;8386592;8417810;8548291;8575773;8586671;8622669;8654373;8798570;8846788;8889548;8941362;9010223;9020136;9130707;9155018;9235954;9570133;9644975;9696047;9795224 2002 K7ENR1;P19419;Q86SR6 AB016193;AB016194;AB209047;ABBA01052389;ABBA01052390;ABBA01052391;ABBA01052392;ABBA01052393;ABBA01052394;AF000672;AF080615;AF080616;AK093966;AK312984;AL009172;AMYH02039288;AMYH02039289;AMYH02039290;BC048296;BC056150;BQ448492;CB852603;CH471164;CR542252;M25269;NG_009222;NM_001114123;NM_001257168;NM_005229 AAA52384;AAC82466;AAD00862;AAH48296;AAH56150;BAA36616;BAA36617;BAC04259;BAD92284;BAG35821;CAG47048;EAW59321;EAW59322;EAW59323;NP_001107595;NP_001244097;NP_005220;P19419 Hs.181128;Hs.715039;Hs.740673 1686326;1795768;2144406;2160694 ELK1_602;G15979;RH18409;RH69105 ETS domain-containing protein Elk-1;ETS-like gene 1;OTTHUMP00000023224;OTTHUMP00000023225;tyrosine kinase (ELK1) oncogene APPROVED protein-coding ENSG00000126767 HGNC:3321 02407 311040 REVIEWED 1343176 ELK2BP ELK2B, member of ETS oncogene family, pseudogene 14 14 14 q32.33 86063134 86070909 - 106010329 106017197 - 105543992 105550860 - 10231026;9795224 9995 AC243900;AF080618;AL928742;NG_001019 ELK2.2;ELK2P2 APPROVED pseudo HGNC:3324 VALIDATED 1317143 ELK3 ELK3, ETS-domain protein (SRF accessory protein 2) The protein encoded by this gene is a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. [provided by RefSeq, Jul 2008] 12 12 12 q23 96254361 96327823 + 96588207 96661606 + 96194402 96269835 + 1580863;6480464;8554872 10022839;10369679;10490644;11042694;12477932;12549820;12788937;12933792;15302935;15489334;15580297;17474147;18029348;18316589;18832796;20379614;20427288;21832049;21906983;21987572;7540136;7851904;7958835;8918463;9570133;9644975 2004 AAB34628;F8VUJ0;F8VZQ0;G3V1Z7;H0YIH6;P41970 ABBA01053315;ABBA01053316;AC008149;AK026078;AK312694;AMYH02026998;AMYH02026999;AMYH02027000;BC017371;CH471054;CR542251;NM_005230;XM_006719275;Z36715 AAB34628;AAH17371;ABM83880;ABM87200;BAG35573;CAA85309;CAG47047;EAW97561;EAW97562;EAW97563;EAW97564;EAW97565;NP_005221;P41970;XP_006719338 Hs.46523 1684313;1690071;1701514;1794106;1794154;2117417;2131996;2179955;5122303;5126999 PMC310794P2;PMC310794P41;RH104390;RH69834;RH71316;RH91230;RH93872;SGC34081;SHGC-37331;STS-Z36715 ERP;NET;SAP-2;SAP2 ETS domain-containing protein Elk-3;ETS-domain protein;ETS-related protein ERP;ETS-related protein NET;OTTHUMP00000243587;OTTHUMP00000243589;SRF accessory protein 2;serum response factor accessory protein 2 APPROVED protein-coding ENSG00000111145 HGNC:3325 02593 600247 REVIEWED 1319566 ELL2 elongation factor, RNA polymerase II, 2 INVOLVED IN snRNA transcription from RNA polymerase II promoter; FOUND IN centrosome; cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17alpha-ethynylestradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one 5 5 5 q15 91099569 91176577 - 95220802 95297775 - 95885098 95962071 - 1580863;6480464 11418481;11752456;12446457;12477932;15489334;18029348;19749764;20379614;20471948;21242887;21360054;21729782;21873227;21963094;21988832;22483617;23022100;23087374;23382691;23518577;24367103;9108030 22936 D6RC27;H0Y8G1;O00472;Q59FW6;Q7Z656 AB209343;ABBA01069245;AC008592;AK296870;AK297956;AK300310;AMYH02011822;AMYH02011823;AV652801;BC028412;BC151238;BX538289;CH471084;KC877046;NM_012081;U88629;XM_006714574;XM_006714575 AAC51232;AAH28412;ABM82462;ABM85651;BAD92580;BAG59433;BAG60269;BAG62063;CAD98084;EAW96060;NP_036213;O00472;XP_006714637;XP_006714638 Hs.192221;Hs.708710 1647305;1647975;1670129;1689129;1690149;1690264;1690966;1778812;2118615;2122539;2138882;2154971;2154973;2155504;2184838;2217304;5094138 A001X44;Cda1ba12;ELL2_3553;G19765;G36675;G54567;RH46186;RH47475;RH69314;RH69404;RH79988;RH80608;RH93840;SGC32614;SHGC-54510;STS-H56561;WI-11385 ELL-related RNA polymerase II, elongation factor;OTTHUMP00000151170;RNA polymerase II elongation factor ELL2 protein-coding ENSG00000118985 HGNC:17064 11798 601874 VALIDATED 1351818 ELK2AP ELK2A, member of ETS oncogene family, pseudogene 14 14 14 q32.3 86075380 86076356 - 106135914 106139144 - 105669577 105672807 - 10231026;12477932;16344560;8575773;9795224 2003 ABBA01004404;AC243900;AF080617;AL928769;DB095165;NG_001019;NR_046211 Hs.744419 1792436 PMC151015P1 ELK2;ELK2.1;ELK2P1;MGC39713 APPROVED pseudo HGNC:3323 VALIDATED 4144514 ELK1P1 ELK1 pseudogene 1 7 7 7 p12.3 45529943 45530608 - 45431072 45431737 - 45391473 45392138 - 647102 ABBA01058249;AC073968;AMYH02015639;CH236960;NG_006972 EAL23742 APPROVED pseudo HGNC:39021 INFERRED 4889646 ELL2P2 elongation factor, RNA polymerase II, 2 pseudogene 2 4 4 4 130628925 130629569 - 133288924 133289568 - 132367769 132368413 - 100421143 ABBA01044860;AC098866;AMYH02010128;NG_025163 pseudo HGNC:39344 INFERRED 5131586 ELL2P3 elongation factor, RNA polymerase II, 2 pseudogene 3 13 13 68863841 68865162 - 68289709 68291030 - 100533713 ABBA01050294;AL356954;AMYH02028207;NG_028874 pseudo HGNC:39345 INFERRED 4889752 ELL2P4 elongation factor, RNA polymerase II, 2 pseudogene 4 X X X q27.3 145949143 145949753 + 145636674 145637284 + 146555156 146555766 + 100128690 ABBA01054287;AL109913;AMYH02040723;NG_022711 pseudo HGNC:39346 INFERRED 1642766 ELFN1 extracellular leucine-rich repeat and fibronectin type III domain containing 1 ENCODES a protein that exhibits phosphatase binding; INVOLVED IN negative regulation of phosphatase activity; synapse organization (ortholog); FOUND IN extracellular vesicular exosome; dendrite (ortholog); excitatory synapse (ortholog); INTERACTS WITH ethyl methanesulfonate; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 p22.3 1716916 1755717 + 1748798 1787590 + 1666106 1747954 + 6480464 17868438;19389623;21139048 392617 P0C7U0 ABBA01039353;AC074389;AI962473;AMYH02015057;BF434584;CH236953;CH471144;DR001365;NM_001128636;XM_006715725;XM_006715726;XM_006715727;XM_006715728;XM_006715729 EAW87217;NP_001122108;P0C7U0;XP_006715788;XP_006715789;XP_006715790;XP_006715791;XP_006715792 Hs.42896 1677981;1682736;1698206;2122407 RH102639;RH48889;RH69569;RH91931 PPP1R28 extracellular leucine-rich repeat and fibronectin type III containing 1;extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1;protein phosphatase 1 regulatory subunit 28;protein phosphatase 1, regulatory subunit 28 APPROVED protein-coding ENSG00000225968 HGNC:33154 614964 VALIDATED 4889635 ELL2P1 elongation factor, RNA polymerase II, 2 pseudogene 1 1 1 1 q23.1 131215219 131218937 - 158144143 158147865 - 158174353 158178075 - 646270 ABBA01016630;AL138899;AMYH02002002;NG_006626 1670129;1689129;1690149;1792420 PMC150819P4;RH79988;RH93840;SHGC-54510 pseudo HGNC:39343 INFERRED 5686924 ELMO1-AS1 ELMO1 antisense RNA 1 7 p14.2 36997796 37013630 + 16344560 100861514 ABBA01056912;AC009196;AMYH02015537;AMYH02015538;DA058843;HG500194;NR_104120 Hs.627775 AC009196.1 APPROVED ncrna ENSG00000224101 HGNC:40765 VALIDATED 1321444 ELK4 ELK4, ETS-domain protein (SRF accessory protein 1) This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q32 178721418 178738288 - 205577071 205602971 - 205598471 205633829 - 1580863;6480464;6907045 10022839;10473620;11313879;11406578;11846562;12477932;1339307;17200232;18029348;18469865;19136943;19322201;22719019;7540136;7566098;7851904;8293474;8575773;9020136;9130707;9235954;9271374;9570133;9644975;9734357 2005 P28324;Q8IXL1 ABBA01027410;ABBA01027411;ABBA01027412;ABBA01027413;ABBA01154182;AC096533;AF075044;AI002107;AI005122;AK024944;AL117645;AMYH02002549;AMYH02002550;BC040145;BC063676;BE041598;BE675475;BE676052;BF433322;BX346360;CH471067;JA897590;JA897591;M85164;M85165;NG_029563;NM_001973;NM_021795;T27937;XM_005244950;XM_005244951;XR_426764;XR_426765;XR_426766;XR_426767 AAA03631;AAA03632;AAH40145;AAH63676;ABZ91998;CCV01469;CCV01470;EAW91570;EAW91571;EAW91572;EAW91573;EAW91574;NP_001964;NP_068567;P28324;XP_005245007;XP_005245008 Hs.497520;Hs.602654 1652012;1656838;1658279;1670505;1698542;1770976;1777320;2179185;2182743;5022651;5037552 D11S2921;D1S3206;D8S2279;RH102822;SHGC-12882;SHGC-76228;SHGC-76232;SHGC-76234;SHGC-76251;WI-15027;WI-18186 DKFZp434N185;SAP-1;SAP1 ETS domain-containing protein Elk-4;ETS-domain protein;OTTHUMP00000035338;OTTHUMP00000035339;SRF accessory protein 1;serum response factor accessory protein 1 APPROVED protein-coding ENSG00000158711 HGNC:3326 02592 600246 REVIEWED 1322410 ELL elongation factor RNA polymerase II ENCODES a protein that exhibits phosphatase binding; INVOLVED IN negative regulation of phosphatase activity; positive regulation of transcription elongation from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase III promoter; PARTICIPATES IN aldosterone signaling pathway; FOUND IN Cajal body; histone locus body; nuclear speck; INTERACTS WITH copper(2+) sulfate; diazinon; hydralazine 19 19 19 p13.1 18455673 18535143 - 18553473 18632937 - 18442663 18522127 - 1580863;6480464;7421504 21784126 10358050;10419521;10490622;10995463;11230166;11418481;11463848;12446457;12477932;12659632;12676794;12686606;12773566;15489334;16006523;16086288;17353931;17395368;19389623;19447890;19615732;19819239;20153263;20166137;20431927;20471949;20854876;21729782;22252557;22355797;22567366;22895430;23314748;23535729;23817569;24127601;24250222;24344198;24816145;7991593;8016121;8125298;8596958;9268387;9556611;9765201 8178 P55199;U3KQ90;U3KQA3 AB208794;ABBA01051264;ABBA01051265;ABBA01051266;ABBA01051267;ABBA01051268;AC005387;AC010335;AF157562;AK225481;AK293105;AK309878;AL136771;AMYH02035733;BC010010;BC033673;BC049195;BC064558;BC108256;BI458899;CH471106;NM_006532;U16282 AAA57120;AAC28752;AAD45322;AAH49195;BAD92031;BAF85794;CAB66705;EAW84707;EAW84708;NP_006523;P55199 Hs.515260 1757715;1777246;1783806;2120221;2135745 D1S3149;SGC31804;SHGC-146351;SHGC-146353;WI-18990 C19orf17;DKFZp434I1916;ELL1;Men;PPP1R68 ELL gene (11-19 lysine-rich leukemia gene);RNA polymerase II elongation factor ELL;eleven-nineteen lysine-rich leukemia protein;protein phosphatase 1, regulatory subunit 68 protein-coding ENSG00000105656 HGNC:23114 02615 600284 VALIDATED 1314023 ELMO2 engulfment and cell motility 2 The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 20 20 20 q13 41706103 41746680 - 44994689 45035690 - 46366050 46407051 - 1580863;6480464;8554872 11076863;11230166;11347906;11595183;11703939;11780052;12477932;12879077;14702039;15489334;15489336;15592455;15809229;15951569;16381901;18602983;21139048;21706016;21906983;22505724;22568984;23184944;23402259;24816145 63916 B4DRL5;B4DZ20;H0YCM7;Q5JVZ4;Q5JVZ5;Q5JVZ8;Q5JW01;Q96JJ3 AB058737;ABBA01052679;AF398886;AF417861;AK021718;AK022731;AK023103;AK057032;AK092796;AK293861;AK299318;AK302710;AL031686;AL133227;AL713765;AL833406;AMYH02037158;AY947527;BC000143;BC014207;BC021079;BC036483;BX648819;CH471077;NM_133171;NM_182764;XM_005260496;XM_005260497;XM_005260498;XM_005260499;XM_005260500;XM_005260501;XM_005260502;XM_006723854;XM_006723855 AAH00143;AAL14467;AAL38512;AAX21788;BAB13879;BAB14210;BAB14405;BAB47463;BAB71350;BAG61327;BAG63932;BAH11614;CAL38605;EAW75739;EAW75743;EAW75745;EAW75746;NP_573403;NP_877496;Q96JJ3;XP_005260553;XP_005260554;XP_005260555;XP_005260556;XP_005260557;XP_005260558;XP_005260559;XP_006723917;XP_006723918 Hs.210469 1674456;1678649;2130011;2146985;2157359;2159568;2168165 A006N01;D15S1293;G01527;G01528;RH31925;RH46558;Z94362 CED-12;CED12;ELMO-2;FLJ11656;KIAA1834 OTTHUMP00000031762;OTTHUMP00000031764;OTTHUMP00000031765;PH domain protein CED12A;ced-12 homolog 2;engulfment and cell motility 2 (ced-12 homolog, c. elegans);engulfment and cell motility protein 2;hCed-12A;protein ced-12 homolog A APPROVED protein-coding ENSG00000062598 HGNC:17233 12103 606421 REVIEWED 1317811 ELMO1 engulfment and cell motility 1 This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 7 7 7 p14.1 36878399 37472945 - 36892511 37488895 - 36852906 37449326 - 1580863;6480464;6907045;8554872 11230166;11256614;11595183;12029088;12134158;12477932;12690205;12829596;12879077;14638695;14645848;14702039;14737186;15247908;15489334;15620647;15700267;15723800;15793258;15952790;16213822;16344560;16495483;17173036;17207965;17653210;17671188;18095154;18768751;19176441;19183347;19651817;19929986;19946888;20031603;20190752;20299368;20379614;20732417;20826100;20958313;21035343;21383967;21399635;21890473;21906983;22216198;22331897;22415709;22503503;22505724;22747683;22842811;22844345;23156397;23382691;23525077;23535033;23591873;23824909;23986795;24816145;24821968;9179496 9844 A4D1X5;C9IZR8;C9J5X3;C9JB20;C9JIW2;H7C0N5;H7C0S6;H7C3P3;Q92556 ABBA01056911;ABBA01056912;ABBA01056913;ABBA01056914;ABBA01056915;ABBA01056916;AC007349;AC007444;AC009196;AC078843;AC078844;AC083861;AC247049;AF398885;AK001084;AK126565;AK291784;AK296253;AK301151;AK314349;AL136787;AMYH02015536;AMYH02015537;AMYH02015538;AMYH02015539;AMYH02015540;AMYH02015541;AMYH02015542;BC003051;BC064635;BC077074;BC114341;BI600726;CH236951;CH471073;D87457;DA238090;DA312397;DB156714;DC366992;KF458435;KF458436;KF458437;KF458443;KF495734;KF510288;KF511025;KF511027;KF511028;NM_001039459;NM_001206480;NM_001206482;NM_014800;NM_130442;NR_038120;XM_005249919;XM_005249920;XM_006715805 AAH03051;AAH64635;AAH77074;AAI14342;AAL14466;ADQ32677;BAA13397;BAC86597;BAF84473;BAG58968;BAG62742;CAB66721;EAL23978;EAL23979;EAW94075;EAW94076;EAW94077;EAW94078;EAW94079;NP_001034548;NP_001193409;NP_001193411;NP_055615;NP_569709;Q92556;XP_005249976;XP_005249977;XP_006715868 Hs.434989;Hs.656638 1645291;1683817;1701232;1705690;1707554;1707598;1709466;1711820;1711826;1714619;1719997;1723363;1754751;1757053;1757207;1772773;2109279;2122990;2128261;2128975;2140213;2149549;2156512;2156525;2183303;2186307;5014051;5015619;5016478;5019549;5020740;5021872;5022651;5037552;7186031;7187541 D11S2921;D11S3114;D7S2231;D7S2685;D7S2843;D7S757;D8S2278;D8S2279;ELMO1_9004;G49437;G49440;G49463;GDB:1317508;GDB:434012;GDB:4585326;GDB:4585643;L17809;RH104244;RH118499;RH119975;RH123976;RH46122;RH68670;RH68762;RH80118;SHGC-133114;SHGC-144423;SHGC-144627;SHGC-81784;SHGC-83425;SHGC-84588;SHGC-84611;WI-16086;sY3084 CED-12;CED12;ELMO-1;KIAA0281;MGC126406 OTTHUMP00000128209;OTTHUMP00000128236;OTTHUMP00000207056;OTTHUMP00000207060;OTTHUMP00000207065;ced-12 homolog 1;engulfment and cell motility 1 (ced-12 homolog, c. elegans);engulfment and cell motility protein 1;protein ced-12 homolog APPROVED protein-coding ENSG00000155849 HGNC:16286 12102 606420 REVIEWED 1312348 ELMO3 engulfment and cell motility 3 The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51741260 51746159 + 67233014 67237932 + 67199125 67204024 + 1580863;6480464 11595183;12477932;14702039;15489334;16344560;20127720;21906983 79767 F8W9E7;I3L4D1;Q96BJ8 ABBA01025432;AC040160;AI955864;AK023886;AK056923;AK300976;AMYH02032226;AMYH02032227;BC015524;BC034410;CH471092;DA872517;NM_024712 AAH15524;AAH34410;ABM82258;ABM85441;BAB14712;BAG62598;EAW83097;EAW83098;NP_078988;Q96BJ8 Hs.377416 1674246;1674248;1685053;1795720 A006F26;E2F4_601;G20763;RH70934 CED-12;CED12;ELMO-3;FLJ13824 OTTHUMP00000164937;OTTHUMP00000164939;ced-12 homolog 3;engulfment and cell motility 3 (ced-12 homolog, c. elegans);engulfment and cell motility protein 3 APPROVED protein-coding ENSG00000102890 HGNC:17289 12104 606422 REVIEWED 3184213 ELMO2P1 engulfment and cell motility 2 pseudogene 1 15 15 15 q11.2 1590002 1602559 + 22777497 22789974 - 23083094 23095571 + 729894 ABBA01040258;AC116165;AC135069;AMYH02030029;NG_022962 pseudo HGNC:38008 INFERRED 1320517 ELL3 elongation factor RNA polymerase II-like 3 ENCODES a protein that exhibits enhancer binding (ortholog); INVOLVED IN DNA-templated transcription, elongation; positive regulation of DNA-templated transcription, elongation; positive regulation of transcription from RNA polymerase II promoter; FOUND IN nucleolus; nucleus; transcription elongation factor complex; INTERACTS WITH aflatoxin B1; crocidolite asbestos; doxorubicin 15 15 15 q15.3 20954260 20958964 - 44064798 44069502 - 43772600 43777304 - 6480464 10882741;12477932;14702039;15489334;16169070;17207965;18029348;19343720;20431927;21729782;23850691 80237 C9JHD8;Q9HB65 ABBA01039223;AC018512;AF276512;AI955716;AK026290;AK057528;AK126384;AMYH02030324;BC006548;BC019293;BC052599;BC062349;CH471082;CR457358;CS072259;NM_025165 AAG13463;AAH06548;AAH19293;ADQ32210;BAB15432;BAG51928;BAG54320;CAG33639;CAI93397;EAW77237;EAW77238;NP_079441;Q9HB65 Hs.706346 1721133;1798754;1802696;1805208;1807316;1808352;1933558;1933560;1933562;1933564;1933566;1933568;1933570;1933572;1933574;1933576;1933578;1933580;1933582;1933584;1933586;1933588;1933590;1933592;1933594;1933596;1933598;1933600;1933602;1933604;1933606;1933608;1933610;2141347;2209070;2209072;2209074;2209076;2209078;2217306 D2S2909;ECD00217;ECD02235;ECD03548;ECD04629;ECD05157;ELL3_3625;G59551;REN37612;REN37613;REN37614;REN37615;REN37616;REN37617;REN37618;REN37619;REN37620;REN37621;REN37622;REN37623;REN37624;REN37625;REN37626;REN37627;REN37628;REN37629;REN37630;REN37631;REN37632;REN37633;REN37634;REN37635;REN37636;REN37637;REN37638;stSG627941;stSG627942;stSG627943;stSG627944;stSG627945 FLJ22637 OTTHUMP00000066301;RNA polymerase II elongation factor ELL3 protein-coding ENSG00000128886 HGNC:23113 10933 609885 VALIDATED 1348670 ELNL1 elastin-like 1 7956370 2007 HGNC:3328 1354404 ELNR1 elastin receptor 1, 67kDa 2008 HGNC:3329 1352550 ELMOD2 ELMO/CED-12 domain containing 2 This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010] 4 4 4 q31.1 138775314 138804916 + 141445312 141474924 + 140524158 140553770 + 737633;1580863;6480464 12477932 12879077;14702039;15489334;16344560;16773575;17452337;17903293;19946888;19966137;21139048;21890473;21906983;21988832;24616099;24816145 255520 D6RBS5;D6RHX2;D6RJB5;Q8IZ81;V9GY58 ABBA01069981;AC093671;AK093087;AK095357;AK312800;AMYH02010212;BC015168;BX499240;BX648349;BX648843;CH471056;DA797584;DB278612;FB342967;FB711090;NG_027825;NM_153702;XM_005262885;XM_005262886 AAH15168;BAG35659;CAR81484;CAS91500;EAX05096;EAX05097;NP_714913;Q8IZ81;XP_005262942;XP_005262943 Hs.450105 1673514;1688899;1689039;1766045 RH92021;RH98918;SHGC-149430;SHGC-67283 9830169G11Rik;FLJ35768;FLJ38038;MGC10084 ELMO domain containing 2;ELMO domain-containing protein 2;OTTHUMP00000164615 APPROVED protein-coding ENSG00000179387 HGNC:28111 13267 610196 REVIEWED 1349956 ELMOD1 ELMO/CED-12 domain containing 1 ENCODES a protein that exhibits GTPase activator activity; INVOLVED IN positive regulation of GTPase activity; FOUND IN cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; cyclosporin A 11 11 11 q22.3 104616622 104692348 + 107461817 107537505 + 107591091 107666779 + 737633;1580863;6480464 12477932 14702039;15489334;16189514;17452337;18029348;19913121;20379614;20585627;20628086;20677014;24616099 55531 E9PLM8;Q8N336 ABBA01039879;AK054794;AK297351;AK303689;AL359601;AMYH02025532;AMYH02025533;AP000889;AP002353;BC028725;CH471065;DC375486;NM_001130037;NM_018712 AAH28725;BAG59800;BAG64679;CAB94879;EAW67091;EAW67092;NP_001123509;NP_061182;Q8N336 Hs.495779 1340567;1666099;1674883;1724743;1748845;5015619;5022450;5118444 A008Y45;D10S275;D11S2017;D11S2366;D11S3114;D11S3316;RH122577;SHGC-104433 DKFZp547C176 ELMO domain containing 1;ELMO domain-containing protein 1;OTTHUMP00000232725;OTTHUMP00000232726;OTTHUMP00000232727 protein-coding ENSG00000110675 HGNC:25334 10934 615456 VALIDATED 1353080 ELMOD3 ELMO/CED-12 domain containing 3 INVOLVED IN phagocytosis (inferred); ASSOCIATED WITH Autosomal recessive inheritance (inferred); DEAFNESS, AUTOSOMAL RECESSIVE 88 (inferred); Lung Neoplasms (inferred); FOUND IN cilium (inferred); cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; paracetamol 2 2 2 p11.2 85409846 85447061 + 85581843 85618875 + 85354720 85391752 + 737633;1580863;6480464;8699517;7240710;8554872 12477932 14702039;15489334;15498874;15815621;16344560;17207965;17452337;24039609;24250222;24616099 84173 B8ZZT8;D3YTJ5;D6R929;D6RHZ3;E9PI96;F8WEC1;Q96FG2 ABBA01075747;ABBA01075748;AC062037;AF258573;AK092920;AK307252;AL713718;AMYH02004179;AMYH02004180;AMYH02004181;BC001942;BC010991;BC018666;BC054504;BC112324;CH471053;DA294897;DQ256726;DQ256727;EB385493;NM_001135021;NM_001135022;NM_001135023;NM_032213;XM_005264596;XM_005264597;XM_005264598;XM_006712116;XR_426997;XR_426998 AAG23776;AAH01942;AAH10991;AAH18666;AAI12325;AAY24127;ABB69067;ABB69068;ADQ32247;CAD28512;EAW99521;EAW99522;EAW99523;EAW99524;EAW99525;EAW99526;EAW99527;EAW99528;EAW99529;NP_001128493;NP_001128494;NP_001128495;NP_115589;Q96FG2;XP_005264653;XP_005264654;XP_005264655;XP_006712179 Hs.269990 1654270;2162349;2173864;2174511;2183313;2187586;5015619;5015961;5016478;5020948;5021396;5022578;5022651;5037552;5094436;5109281 A005V40;A006X07;Cda02a04;D11S2921;D11S3114;D15S1477;D1S1423;D1S1425;D2S2699;D8S2279;G30177;G35510;G54796;GDB:313783;GDB:434012;RH41773 DFNB88;FLJ21977;FLJ35601;LST3;MGC111036;RBED1;RBM29 C330008I15Rik;ELMO domain-containing protein 3;OTTHUMP00000160671;OTTHUMP00000202949;OTTHUMP00000202950;OTTHUMP00000202954;OTTHUMP00000202955;OTTHUMP00000202956;OTTHUMP00000202957;OTTHUMP00000204481;RNA binding motif and ELMO domain 1;RNA binding motif and ELMO/CED-12 domain 1;RNA binding motif protein 29;RNA-binding motif and ELMO domain-containing protein 1;RNA-binding motif protein 29;RNA-binding protein 29;deafness, autosomal recessive 88;liver-specific organic anion transporter 3TM12;organic anion transporter LST-3b protein-coding ENSG00000115459 HGNC:26158 07973 615427;615429 VALIDATED 1601839 ELOF1 elongation factor 1 homolog (S. cerevisiae) ENCODES a protein that exhibits metal ion binding (inferred); translation elongation factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); translational elongation (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; menadione; potassium chromate 19 19 19 p13.2 11558603 11564794 - 11663858 11670051 - 11553043 11559236 - 6480464 12477932;14702039;15489334;15867431;16169070;16189514;16260625;16730941;17207965;21900206;23455924;24250222;24816145 84337 A0A024R7E8;K7EL94;K7EMV4;K7EN05;K7EPC8;K7EQ44;P60002 ABBA01029839;ABBA01029840;AC008481;AC009001;AK001171;AK097850;AMYH02035530;AX876149;AX887874;BC007516;BG424379;BG718042;CH471106;NM_032377 AAH07516;ACE87028;ACE87714;ADQ32410;CAE89143;CAE93799;EAW84230;EAW84231;NP_115753;P60002 Hs.631633 1734634;2156098;5023733 AU048745;D19S636E;WI-15958 ELF1 elongation factor 1 homolog (ELF1, S. cerevisiae);transcription elongation factor 1 homolog protein-coding ENSG00000130165 HGNC:28691 14639 VALIDATED 1349015 ELOVL1 ELOVL fatty acid elongase 1 ENCODES a protein that exhibits fatty acid elongase activity; INVOLVED IN fatty acid elongation, monounsaturated fatty acid; fatty acid elongation, saturated fatty acid; sphingolipid biosynthetic process; FOUND IN endoplasmic reticulum; membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 p34.2 42111226 42115853 - 43829068 43833745 - 43363397 43368074 - 1580863;6480464 10810093;12477932;14702039;15342556;15489334;16712791;17353931;19946888;20166112;20937905;21139048;21890473;21987572;23538298;23864651;24816145;8125298;8944226 64834 Q9BW60 AA635780;ABBA01050956;AF151846;AF336793;AK001653;AK130174;AK222498;AK298163;AL139289;AL537185;AMYH02000898;BC000618;BC095456;BM556982;BP208926;BP281965;BU180063;BU786323;BU857779;CB149715;CH471059;NM_001256399;NM_001256401;NM_001256402;NM_022821;NR_046117 AAD34083;AAH00618;AAH95456;AAL71993;BAA91813;BAD96218;BAG60436;EAX07100;NP_001243328;NP_001243330;NP_001243331;NP_073732;Q9BW60 Hs.25597 1653959;1683477;2141046 A004O43;RH12828;RH98782 CGI-88;Ssc1 3-keto acyl-CoA synthase ELOVL1;ELOVL FA elongase 1;OTTHUMP00000008574;elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1;elongation of very long chain fatty acids protein 1;very-long-chain 3-oxoacyl-CoA synthase 1 APPROVED protein-coding ENSG00000066322 HGNC:14418 10935 611813 VALIDATED 6770589 ELOVL2-AS1 ELOVL2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 6 6 6 12273387 12307840 + 11043991 11079377 + 11043758 11079144 + 8554872 12477932;16461635;21829377;21886157 100506409 ABBA01022095;ABBA01022096;ABBA01022097;AL121955;AMYH02013103;BC038757;BC044599;BI828717;DN918479;HG498987;HG498989;NR_038962;NR_038963;NR_038964 Hs.43818 RP1-62D2.3 APPROVED ncrna HGNC:44156 VALIDATED 1318475 ELOVL2 ELOVL fatty acid elongase 2 ENCODES a protein that exhibits fatty acid elongase activity; INVOLVED IN fatty acid elongation, polyunsaturated fatty acid; very long-chain fatty acid biosynthetic process; FOUND IN endoplasmic reticulum; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 6 6 6 p24.2 12209434 12273087 - 10980992 11044624 - 10980759 11044391 - 1580863;6480464 12371743;12477932;14702039;16564093;17207965;17583696;18660489;19148276;20037589;20379614;20937905;21560298;21829377;21886157;21917437;22359512;22916037;23061750;23555103;8944226 54898 Q9NXB9 ABBA01022094;AJ420504;AK000341;AL080199;AL121955;AMYH02013103;BC050278;BC060809;CH471087;NM_017770;XM_005249200 AAH50278;AAH60809;ADQ33026;BAA91096;EAW55290;EAW55291;EAW55292;NP_060240;Q9NXB9;XP_005249257 Hs.656436 1785904;2109281;2133091;2185460 A006P33;ELOVL2_9842;RH70182;SHGC-141925 FLJ20334;SSC2 3-keto acyl-CoA synthase ELOVL2;ELOVL FA elongase 2;OTTHUMP00000016029;elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2;elongation of very long chain fatty acids protein 2;very-long-chain 3-oxoacyl-CoA synthase 2 APPROVED protein-coding ENSG00000197977 HGNC:14416 16857 611814 VALIDATED 1353049 ELOVL5 ELOVL fatty acid elongase 5 This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] 6 6 6 p21.1-p12.1 54794435 54876099 - 53132196 53213977 - 53267398 53349179 - 1302211;1580863;6480464;8699517 10970790 11230166;12477932;14574404;14702039;15489334;16273301;16303743;17207965;18660489;19322201;19946888;20301317;20363506;20379614;20937905;21139048;21383846;21508110;21890473;22293571;23099444;24167612;24816145;25065913;8619474;8944226;9110174 60481 E2QRH7;Q9NYP7 AB209798;ABBA01050538;ABBA01050539;ABBA01050540;AF052129;AF111849;AF231981;AF338241;AK074748;AK074889;AK125098;AK299674;AK302948;AL034374;AL136939;AMYH02013747;AMYH02013748;BC009838;BC017270;BC067123;BC074503;CH471081;CQ782857;DB143083;DB225467;DC345924;NG_034263;NM_001242828;NM_001242830;NM_001242831;NM_001301856;NM_021814;XM_005249266;XM_005249267 AAF16688;AAF70631;AAH17270;AAH67123;AAM00193;ADQ31919;BAC11178;BAC11270;BAD93035;BAG54141;BAG61584;BAG64104;CAB66873;CAF86084;EAX04413;EAX04414;EAX04415;EAX04416;EAX04417;EAX04418;EAX04419;EAX04420;EAX04421;EAX04422;NP_001229757;NP_001229759;NP_001229760;NP_001288785;NP_068586;Q9NYP7;XP_005249323;XP_005249324 Hs.520189 1659640;1660933;1694164;1697694;1768670;1856131;2186493;5113444 A008D02;AL035167;D6S1213E;D6S2076;RH102363;RH47678;RH93453;SGC32472 HELO1;RP3-483K16.1;SCA38;dJ483K16.1 3-keto acyl-CoA synthase ELOVL5;ELOVL FA elongase 5;ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast);OTTHUMP00000017867;OTTHUMP00000017868;elongation of very long chain fatty acids protein 5;fatty acid elongase 1;homolog of yeast long chain polyunsaturated fatty acid elongatio;homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2;spinocerebellar ataxia 38;very-long-chain 3-oxoacyl-CoA synthase 5 APPROVED protein-coding ENSG00000012660 HGNC:21308 13268 611805;615957 REVIEWED 1313772 ELOVL4 ELOVL fatty acid elongase 4 This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008] 6 6 6 q14 81042504 81075295 - 80624529 80657315 - 79914812 79947598 - 1580863;1598895;6480464;7240710;8554872;8699517 11726641 10218695;11138005;11474659;11581213;12477932;12592226;12824221;12967813;14574404;14702039;15028284;15489334;15930014;16036915;16344560;16364203;16476896;16885922;17000705;17207965;17210851;17286855;17356513;20096366;20301317;20388345;20522523;20801516;20937905;21139992;21890473;22100072;22773346;22863181;22948568;23509295;23669352;24250222;24566826;24571530;24664730;24664752;8002833;8002834;8944226 6785 Q9GZR5 ABBA01040419;AF277094;AF279654;AJ420478;AK055277;AK310625;AK312511;AL132875;AL133475;AMYH02013978;AMYH02013979;AY037298;BC038506;CH471051;DA122864;DQ426871;KF458201;NG_009108;NM_022726 AAG47668;AAG47669;AAH38506;AAK68639;ABM82155;ADQ32338;BAB70895;BAG35412;EAW48701;NP_073563;Q9GZR5 Hs.101915 1697534;1752387;1856199;2167185 RH102273;RH46713;SGC34498;SHGC-106356 ADMD;CT118;FLJ17667;FLJ92876;ISQMR;SCA34;STGD2;STGD3 3-keto acyl-CoA synthase ELOVL4;ELOVL FA elongase 4;OTTHUMP00000016776;Stargardt disease 3 (autosomal dominant);cancer/testis antigen 118;elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4;elongation of very long chain fatty acids protein 4;very-long-chain 3-oxoacyl-CoA synthase 4 APPROVED protein-coding ENSG00000118402 HGNC:14415 05697 133190;600110;605512;614457 REVIEWED 1316352 ELOVL3 ELOVL fatty acid elongase 3 This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013] 10 10 10 q24.32 97727066 97730269 + 103986143 103989346 + 102226278 102229589 + 1580863;6480464 10429212;12477932;14581464;15489334;17207965;17583696;20937905;21988832;8944226 83401 Q9HB03 ABBA01063164;AF292387;AL160011;AMYH02023689;BC034344;CH471066;HY050356;NM_152310 AAG17875;AAH34344;ADQ31862;EAW49711;NP_689523;Q9HB03 Hs.302130 CIG-30;CIG30;MGC21435 3-keto acyl-CoA synthase ELOVL3;ELOVL FA elongase 3;OTTHUMP00000020361;cold-inducible glycoprotein of 30 kDa;elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3;elongation of very long chain fatty acids protein 3;very-long-chain 3-oxoacyl-CoA synthase 3 APPROVED protein-coding ENSG00000119915 HGNC:18047 16858 611815 REVIEWED 1314547 ELMSAN1 ELM2 and Myb/SANT-like domain containing 1 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; 3-methylcholanthrene; benzo[a]pyrene diol epoxide I 14 14 14 q24.3 54217906 54289979 - 74181825 74256988 - 73715122 73790285 - 6480464;8554872 12477932;12508121;14702039;15489334;16344560;17081983;18029348;19322201;19471022;19505873;19531213;20936779;21139048;21182205;21258344;21890473;22939629;23000965;23752268;24332808 91748 C9JYU7;H7C1L3;Q6PJG2 ABBA01030745;ABBA01030746;ABBA01030747;AC005520;AC006146;AK024978;AK090424;AK095434;AK127785;AK308604;AMYH02029496;AMYH02029497;AMYH02029498;BC003121;BC006451;BC006511;BC009202;BC015668;BC025330;BC034345;BC036475;BC047633;BC052976;BC062730;BC105996;BG177343;CH471061;DA096012;DN999792;KF455940;NM_001043318;NM_194278;XM_005268204;XM_005268205;XM_005268206 AAH06511;AAH09202;AAH15668;AAH25330;BAC03405;EAW81127;EAW81128;NP_001036783;NP_919254;Q6PJG2;XP_005268261;XP_005268262;XP_005268263 Hs.594157 1335751;1653990;1847591;2112154;2112156;2118287;2120410;2126495;2129994;2130845;2146805;2149942;5015861;5020948;7185938 D10S16;D14S1025;D14S1379;D14S1383;G06831;G20218;G35385;G35510;G36110;G38125;G38261;G38301;G38338;SHGC-57340 C14orf117;C14orf43;FLJ00335;LSR68;c14_5541 ELM2 and SANT domain-containing protein 1;OTTHUMP00000197181;OTTHUMP00000197182;OTTHUMP00000197183;hypothetical protein LOC91748;uncharacterized protein C14orf43 APPROVED protein-coding ENSG00000156030 HGNC:19853 12648 VALIDATED 1321534 ELOVL7 ELOVL fatty acid elongase 7 ENCODES a protein that exhibits transferase activity (inferred); INVOLVED IN fatty acid elongation, polyunsaturated fatty acid; fatty acid elongation, saturated fatty acid; very long-chain fatty acid biosynthetic process; FOUND IN endoplasmic reticulum; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; chromium atom 5 5 5 q12.1 56988499 57035934 - 60047616 60140101 - 60751789 60844311 - 6480464 12477932;16344560;19826053;20379614;20937905;21959040;22751105;8944226 79993 A1L3X0;D6RBM2;D6RBR5;D6RE10;D6RHD0 AB181393;ABBA01015803;ABBA01015804;ABBA01015805;AC104113;AC109133;AC109579;AI769834;AK027216;AL137506;AMYH02011370;AMYH02011371;AMYH02011372;AMYH02011373;BC094792;BC130310;BC130312;BC144257;CH471123;DA247166;NM_001104558;NM_001297617;NM_001297618;NM_024930;XM_005248606;XM_005248607;XM_006714695 A1L3X0;AAI30311;AAI30313;ADR83129;BAB15697;BAD93238;CAB70777;EAW55001;EAW55002;NP_001098028;NP_001284546;NP_001284547;NP_079206;XP_005248663;XP_005248664;XP_006714758 Hs.274256 1685393;1752385;1753059;2145058 D5S2713;RH98189;SHGC-106355;SHGC-77932 FLJ23563 3-keto acyl-CoA synthase ELOVL7;ELOVL FA elongase 7;ELOVL family member 7, elongation of long chain fatty acids;OTTHUMP00000221723;OTTHUMP00000221724;OTTHUMP00000221725;OTTHUMP00000221726;elongation of very long chain fatty acids protein 7;very-long-chain 3-oxoacyl-CoA synthase 7 APPROVED protein-coding ENSG00000164181 HGNC:26292 18700 614451 VALIDATED 1345221 ELOVL6 ELOVL fatty acid elongase 6 Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008] 4 4 4 q25 108263951 108413724 - 110970187 111120355 - 110049073 110198664 - 1302212;1580863;6480464;8554872 11567032 12477932;14702039;15342556;15489334;15815621;16344560;18660489;19259639;20332099;20732626;20937905;21544602;21701577;21906983;22753171;23251661;23903678;24113622;8889549;8944226 79071 D6RBP4;D6RCU0;D6RHI2;Q9H5J4 ABBA01063786;ABBA01063787;ABBA01063788;ABBA01063789;ABBA01063790;ABBA01063791;AC004050;AC093770;AK027031;AK074813;AK074882;AMYH02009902;AMYH02009903;AMYH02009904;AMYH02009905;AMYH02009906;AMYH02009907;AMYH02009908;AMYH02009909;BC001305;BE539688;BP278053;BP314858;CH471057;DB368351;H65618;NM_001130721;NM_024090 AAH01305;AAY40928;BAB15632;BAC11225;EAX06258;EAX06259;EAX06260;NP_001124193;NP_076995;Q9H5J4 Hs.412939;Hs.652828 1645171;1774914;1780426;1853682;1855543;2115105;2124212;2126735;2131812;2140769;2159309;2168184;2170604;2184511 D4S2528E;D4S482;G33626;RH47998;SHGC-16331;SHGC-19835;SHGC-24798;SHGC-30110;SHGC-34005;SHGC-50284;SHGC-59866;SHGC-67274;STS-N35799;st44i23SP6_nih FACE;FAE;FLJ23378;LCE;MGC5487;hELO2 3-keto acyl-CoA synthase ELOVL6;ELOVL FA elongase 6;ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast);OTTHUMP00000163370;OTTHUMP00000163371;OTTHUMP00000221927;OTTHUMP00000222111;elongation of very long chain fatty acids protein 6;fatty acid elongase 2;fatty acyl-CoA elongase;long-chain fatty-acyl elongase;very-long-chain 3-oxoacyl-CoA synthase 6 APPROVED protein-coding ENSG00000170522 HGNC:15829 13269 611546 VALIDATED 736469 ELN elastin This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68923491 68963674 + 73442119 73484237 + 74027789 74069907 + 1580326;1580327;1580328;1580157;1580330;1601026;1580863;6480464;7207897;7240710;7207866;7207865;9585740;8554872;9585765;9585737;9585666;9585688;9585745;9585750;9585729;9585730;9585741;9585748;9585761;9585766;9585744;9585734;9585738;9585668;9585764;8699517;7387224;9585725;9585739;9585753;9585749;9585756;9585691;9585732;9585735;9585736;9585768;9585742;9585733;9585755;9585763;9585752;9585754 10533027;11021831;11175284;11683283;11707314;11979070;12194112;12643515;15218274;1526740;15381555;15944607;15955094;16081882;16085695;16123400;1629625;18279932;18326737;18585885;18753059;19032378;1936214;19878076;21356372;21391811;21478483;22065928;22223197;22563211;23442826;2745999;6736354;6893335;7524808;7545578;7573374;7777294;8040608;8132745;8256113;8763587;9101501;9873040 10190324;10190538;10424889;10471600;10536372;10544250;10825173;10942104;11003705;11071917;11076863;11230166;11711520;11723132;11735026;11805834;11809415;11867344;11911775;12016585;12029074;12102453;12477932;12555228;12618961;12679320;12686141;12690215;12853948;1372742;14500713;14702039;15009703;15036271;15134831;15233806;15297630;15342556;15489334;15489336;15537639;15550396;15654955;15681698;15698546;15721581;15748998;15774842;15860743;15866738;15890261;15890991;15925490;15961300;16042404;16078697;16161116;16251195;16303743;16374472;16381901;16574921;16611674;16675961;16691586;16820942;16829682;16878986;16899711;16982955;17037986;17139263;17227755;17255108;17287949;17567153;17591890;17626896;17672902;17693470;17724138;17727474;17872975;17912483;17929969;17999374;18155129;18307085;18348261;18376131;18441095;18450438;18842294;19029017;19054052;19056482;19087518;19143680;19144321;19167375;19194475;19282817;19357152;19478233;19570982;19578796;19593948;19603496;19617625;19627254;19682489;19701759;19755752;19844261;19889633;19913121;19948975;19957551;20051886;2014796;20301427;20301756;20346360;20347403;20452482;20457133;20600892;20628086;20673868;20694560;20844573;20847053;20877624;20884320;20926252;2093478;21080980;21276682;21309044;21321118;21368178;21540769;21948647;21967233;21988832;22003121;22004282;22034890;22068323;22095981;22099332;22101911;22135799;22288597;22328151;22411928;22475419;22573328;22728886;22748047;22796164;22947869;23049084;23160093;23167938;23250738;23294012;23401415;23542855;23597635;23763354;23890452;24106871;24121514;24293364;24339977;24550393;2722804;2831431;3038460;3039501;3171221;3840328;6150137;6912069;7693128;8096434;8125298;8541862;8689688;8761465;8812460;8947836;9215670;9215671;9580666;9607766;9745729;9819363 2006 B3KRT8;B4E3S4;E7EN51;E7EN65;E7ENM0;E7ENW7;E7EP82;E7EQH8;E7ETP7;E7EWS8;E9PGX4;F8WAH6;G3V0G6;G5E950;H7C3K0;P15502;Q59H17;Q6ZUN2;Q8NBI4 AA600350;AB208942;ABBA01063923;ABBA01063924;ABBA01063925;ABBA01063926;AC005056;AF086171;AK075494;AK075554;AK092232;AK094138;AK095990;AK122731;AK125511;AK130894;AK225659;AK304845;AMYH02016033;BC035570;BC050379;BC065566;BP284909;BX537939;BX538199;CH471200;CQ796435;J04821;M16983;M17265;M17266;M17267;M17268;M17269;M17270;M17271;M17272;M17273;M17274;M17275;M17276;M17277;M17278;M17279;M17280;M17281;M17282;M24782;M26867;M36860;NG_009261;NM_000501;NM_001081752;NM_001081753;NM_001081754;NM_001081755;NM_001278912;NM_001278913;NM_001278914;NM_001278915;NM_001278916;NM_001278917;NM_001278918;NM_001278939;U62292;U63721;U77846;U93037;X15603;X52896;XM_005250187;XM_005250188;XM_006715874;XM_006715875;XM_006715876;XM_006715877;XM_006715878 AAA52379;AAA52382;AAA53190;AAB17544;AAB65620;AAB65621;AAC13884;AAC98393;AAC98394;AAC98395;AAC99789;AAH65566;AAS07435;BAC11651;BAC11696;BAC85506;BAC86188;BAD92179;BAG52500;BAG52824;BAG53188;BAG65586;CAA33627;CAD97910;CAD98065;CAG26527;CAL38219;EAW69624;EAW69625;EAW69626;EAW69627;EAW69628;EAW69629;EAW69630;EAW69631;EAW69632;EAW69633;EAW69634;EAW69635;EAW69636;NP_000492;NP_001075221;NP_001075222;NP_001075223;NP_001075224;NP_001265841;NP_001265842;NP_001265843;NP_001265844;NP_001265845;NP_001265846;NP_001265847;NP_001265868;P15502;XP_005250244;XP_005250245;XP_006715937;XP_006715938;XP_006715939;XP_006715940;XP_006715941 Hs.647061 1742977;1766137;1790411;1790447;2116938;2149026;2179089;2186908;5119751;5120558;7187114 D7S2764;D7S3270;D7S3298;G31704;GDB:181244;GDB:226550;GDB:360310;GDB:3754258;SHGC-149516;SHGC-36654 FLJ38671;FLJ43523;SVAS;WBS;WS OTTHUMP00000160564;OTTHUMP00000196667;OTTHUMP00000211820;OTTHUMP00000211857;OTTHUMP00000211858;OTTHUMP00000211859;OTTHUMP00000211860;OTTHUMP00000211861;OTTHUMP00000211862;OTTHUMP00000211863;OTTHUMP00000211864;OTTHUMP00000211865;OTTHUMP00000211866;elastin (supravalvular aortic stenosis, Williams-Beuren syndrome);tropoelastin APPROVED protein-coding ENSG00000049540 HGNC:3327 00556 123700;130160;185500 REVIEWED 1316051 ELP3 elongator acetyltransferase complex subunit 3 ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009] 8 8 8 p21.1 26910426 27008547 + 27950584 28048670 + 28090231 28191153 + 1580863;6480464 11076863;11230166;11256614;11714725;11818576;12477932;14702039;15489336;15616580;15761153;16344560;16381901;17558451;18303054;18996918;19185337;19429107;19834596;20036197;20626565;20877300;21139048;21890473;21906983;21963094;22216241;22678362;22863883;22939629;23000965;23891004;24769394;24778252;24816145;8125298;8543574;8889548 55140 B4DKA4;B4DXV1;E5RG26;E5RHR2;E5RHY2;E5RIC0;E5RIU1;E5RIZ7;H0YAP7;H0YC54;Q9H9T3 ABBA01005596;ABBA01005597;AC019031;AC021678;AK001284;AK022626;AK223047;AK293424;AK295574;AK296475;AK298265;AK302140;AK315985;AK316053;AL834273;AMYH02017682;BC001240;BM663362;BU683531;BX648011;CH471080;DA150994;DA787116;DA877844;NM_001284220;NM_001284222;NM_001284224;NM_001284225;NM_001284226;NM_018091;XM_006716354 AAH01240;BAA91600;BAB14138;BAD96767;BAG56930;BAG58473;BAG59116;BAG60529;BAG63513;BAH14356;BAH14424;CAD38948;CAH10573;CAL37511;EAW63528;EAW63529;NP_001271149;NP_001271151;NP_001271153;NP_001271154;NP_001271155;NP_060561;Q9H9T3;XP_006716417 Hs.491336 1338245;1646045;1657309;1667519;1673786;1757499;1847371;2164382;2164384;2165496;2178154;5015861;5015961;5037552;7185938 A002C05;D10S16;D15S1477;D8S1820;D8S2279;G04236;G19915;RH16604;SHGC-144874;SHGC-2723;STS-D29223;STS-H84776;WI-11768;WI-19683 FLJ10422;KAT9;hELP3 OTTHUMP00000128319;OTTHUMP00000225327;OTTHUMP00000225330;elongation protein 3 homolog;elongator complex protein 3 APPROVED protein-coding ENSG00000134014 HGNC:20696 10936 612722 VALIDATED 1354263 ELSPBP1 epididymal sperm binding protein 1 The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 1687 3571 + 48497908 48528410 + 47994651 48025156 + 6480464 10502414;11118214;11144225;12477932;17307309;17910069;19828133;19950203;20195544;20503194;20714342;2163343;22449649;2385294;25009770;8159721;8889548;9013644;9235903;9242638;9372912;9409784 64100 M0QZH6;M0R006;M0R179;M0R331;Q96BH3 ABBA01033019;ABBA01033020;AC010330;AF279147;AJ278478;AMYH02036280;BC015598;BM661759;BM663735;CH471177;GQ149084;NM_022142;XM_006723322 AAH15598;AAK69481;ADD71696;CAC14267;EAW52309;NP_071425;Q96BH3;XP_006723385 Hs.104894 1732588;5022718 D19S541;ELSPBP1 E12;EDDM12;EL149;HE12 epididymal protein 12;epididymal secretory protein 12;epididymal sperm-binding protein 1;epididymis luminal secretory protein 149 APPROVED protein-coding ENSG00000169393 HGNC:14417 12119 607443 REVIEWED 1352223 ELP4 elongator acetyltransferase complex subunit 4 This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 11 11 11 p13 31678743 31952788 + 31531297 31806073 + 31509729 31784525 + 6480464;7240710;8699517 11076863;11230166;11435442;11714725;11818576;11889558;12477932;15473317;15489336;16341674;16381901;17577209;19172991;19682046;19779648;19834596;20301534;21139048;21282530;22678362;22787611;22863883;22939629;23080069;23891004;24816145;24995671;8889548 26610 E9PPJ9;G5E9D4;Q96EB1 ABBA01060922;ABBA01060923;ABBA01060924;ABBA01060925;ABBA01060926;AC108456;AC131571;AJ276005;AK000505;AK304885;AL136677;AL390767;AMYH02024545;AMYH02024546;AMYH02024547;AMYH02024548;AMYH02024549;BC012514;BF969161;BM680240;BQ083338;CH471064;D59285;HY127287;KF510367;NG_034086;NM_001288725;NM_001288726;NM_019040;XM_005252865;Z83001;Z83306;Z83307 AAH12514;ABM82394;ABM85577;BAA91212;BAG65622;CAB66612;CAC08200;CAC10331;CAL38337;CAL38732;EAW68237;EAW68238;NP_001275654;NP_001275655;NP_061913;Q96EB1;XP_005252922 Hs.175534;Hs.614864 1337180;1651644;1669696;1672345;1716907;1719949;1722705;1723947;1731843;1792958;1855066;2132958;2168283 AFM206xb2;D11S1170;D11S1322;D11S2335;D11S4662;D11S995;G60437;PMC17648P1;RH118706;RH121745;RH123953;RH35880;STS-T88830 AN;C11orf19;FLJ20498;PAX6NEB;dJ68P15A.1;hELP4 OTTHUMP00000183580;OTTHUMP00000183581;OTTHUMP00000232224;PAX6 neighbor gene protein;PAXNEB;elongation protein 4 homolog;elongator complex protein 4 APPROVED protein-coding HGNC:1171 07377 106210;606985 REVIEWED 1315022 ELP2 elongator acetyltransferase complex subunit 2 ENCODES a protein that exhibits DNA binding; INVOLVED IN chromatin organization (inferred); regulation of JAK-STAT cascade (inferred); regulation of transcription from RNA polymerase II promoter (inferred); FOUND IN cytoplasm; Elongator holoenzyme complex; transcription elongation factor complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; benzene 18 18 18 q12.2 30517767 30562479 + 33709837 33754688 + 36129874 36174725 + 6480464 10954736;11714725;11818576;12477932;14702039;15489334;18029348;18303054;19834596;21890473;21906983;21963094;22053931;22069317;22678362;22863883;22939629;23000965;23891004;24250222;24816145;8125298 55250 F5GWY6;F5GX79;F5GYE9;H0YFW0;K7ER35;Q6IA86 ABBA01022432;ABBA01022433;AC023043;AC091060;AF332505;AF403223;AK001741;AK022709;AK222791;AK293051;AK300201;AK302062;AMYH02034561;AMYH02034562;AMYH02034563;AMYH02034564;BC007098;BC009211;BC032553;CH471088;CR457269;DC325711;NM_001242875;NM_001242876;NM_001242877;NM_001242878;NM_001242879;NM_018255;NR_040110;XR_430081 AAH09211;AAH32553;AAK97355;AAQ03093;BAA91874;BAB14193;BAD96511;BAF85740;BAG61972;BAG63452;CAG33550;EAX01373;EAX01374;EAX01375;EAX01376;NP_001229804;NP_001229805;NP_001229806;NP_001229807;NP_001229808;NP_060725;Q6IA86 Hs.8739 1660133;1670058;2117270 RH36194;SHGC-57493;STS-R07637 FLJ10879;SHINC-2;STATIP1;StIP;stIP1 OTTHUMP00000163412;OTTHUMP00000237083;OTTHUMP00000237085;OTTHUMP00000237086;OTTHUMP00000237087;OTTHUMP00000237089;OTTHUMP00000237090;STAT3-interacting protein 1;elongation protein 2 homolog;elongator complex protein 2;elongator protein 2;signal transducer and activator of transcription 3 interacting protein 1;signal transducer and activator of transcription interacting protein 1 APPROVED protein-coding ENSG00000134759 HGNC:18248 15443 VALIDATED 1606812 ELP5 elongator acetyltransferase complex subunit 5 INVOLVED IN positive regulation of cell migration (ortholog); FOUND IN cytoplasm; Elongator holoenzyme complex; nucleus; INTERACTS WITH arsenous acid; cobalt dichloride; coumestrol 17 17 17 p13.1 7180017 7187904 + 7155372 7163259 + 7252053 7259940 + 6480464 10737800;11042152;12477932;15342556;15489334;16713569;16850183;18029348;21139048;21906983;21963094;22678362;22854966;23891004;24250222;8125298;8889548 23587 I3L1A8;I3L1Q3;I3L200;I3L2A9;I3L2T0;I3L3N8;I3L437;I3NI50;Q8TE02 AB013910;ABBA01054856;AC003688;AF070658;AF087868;AF163262;AK225983;AK289940;AL713741;AMYH02032896;BC002762;BE743557;BF921423;BF982004;BI916017;BM970924;BP230198;BQ648358;CA431021;CA450318;CF135215;CH471108;NM_015362;NM_203413;NM_203414;NM_203415 AAD20964;AAH02762;AAM10496;AAQ13591;BAB87800;BAF82629;CAH56280;EAW90230;EAW90231;EAW90232;NP_056177;NP_981958;NP_981959;NP_981960;Q8TE02 Hs.417029 1649617;1697064;1768073;1768075;2109233;2165439 D17S2159;DERP6_9376;RH102011;RH12882;RH47392;WIAF-2127 C17orf81;DERP6;HSPC002;MST071;MSTP071 S-phase 2 protein;dermal papilla derived protein 6;dermal papilla-derived protein 6;elongator complex protein 5 APPROVED protein-coding ENSG00000170291 HGNC:30617 08520 615019 VALIDATED 1347532 ELTD1 EGF, latrophilin and seven transmembrane domain containing 1 ENCODES a protein that exhibits calcium ion binding (inferred); G-protein coupled receptor activity (inferred); protein dimerization activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); neuropeptide signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH all-trans-retinoic acid; cobalt dichloride; disodium selenite 1 1 1 p33-p32 77595032 77712073 - 79355449 79472495 - 78889764 79006810 - 632805;1580863;6480464;8554872 11050079 11181995;12477932;12975309;15203201;15489334;16335952;16344560;18519829;21782286;23096411;23453885;23474535;23871637 64123 B1AR72;Q9HBW9 AB032017;ABBA01074383;ABBA01074384;ABBA01074385;AC098651;AC099674;AF192403;AK129766;AK172750;AK292894;AK313738;AL596269;AMYH02001320;AMYH02001321;AMYH02001322;AY358360;BC025721;CH471059;DA477962;NM_022159 AAG33021;AAH25721;AAQ88726;ADZ15452;BAD18736;BAD83584;BAF85583;BAG36479;EAX06345;EAX06346;NP_071442;Q9HBW9 Hs.132314 1645053;1699326;1699786;1710696;1716809;2146307 RH103250;RH103500;RH121699;RH70233;SHGC-57820;SHGC-79628 ETL;KPG_003 EGF, latrophilin and seven transmembrane domain-containing protein 1;EGF-TM7-latrophilin-related protein;OTTHUMP00000011299 protein-coding ENSG00000162618 HGNC:20822 VALIDATED 1342878 EMB embigin This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Jan 2009] 5 5 5 q11.1 46639392 46684611 - 49692026 49737234 - 50396197 50441400 - 632509;6480464;8554872 9438341 12477932;15024082;15489334;21787388;21906983;2963822;8700511 133418 D6RDX7;Q6PCB8 ABBA01015697;ABBA01015698;AC035145;AC091833;AK300860;AK304226;AMYH02011276;BC059398;CH471123;DC309453;NM_198449;U52054 AAH59398;ADZ16010;BAH13359;BAH14138;EAW54852;EAW54853;EAW54854;NP_940851;Q6PCB8 Hs.561411 1646226;2148623 L28236;SHGC-34214 GP70;MGC71745 OTTHUMP00000161812;OTTHUMP00000221477;OTTHUMP00000221478;OTTHUMP00000221479;embigin homolog APPROVED protein-coding ENSG00000170571 HGNC:30465 13271 615669 REVIEWED 4107118 EMBP1 embigin pseudogene 1 1 1 1 p11.2 179675288 179728624 + 121260910 121313686 + 121519112 121571888 + 6480464 19330030;23535729 647121 ABBA01003876;AK128714;AL592494;AMYH02001823;AMYH02001824;AMYH02001825;AMYH02001826;NR_003955 Hs.697682 2148623 SHGC-34214 pseudo ENSG00000231752 HGNC:38661 VALIDATED 1606547 ELP6 elongator acetyltransferase complex subunit 6 INVOLVED IN positive regulation of cell migration (ortholog); FOUND IN Elongator holoenzyme complex; INTERACTS WITH 2-methylcholine; copper atom; copper(0) 3 3 3 p21.31 47478723 47497105 - 47537130 47555199 - 47495640 47513709 - 6480464 12477932;14702039;15489334;20706999;21139048;21890473;21906983;21963094;21987572;22854966;22863883;23891004;24250222;24284306;24816145;8125298 54859 C9IYN7;C9J2D6;C9J9N8;C9JA82;C9JEX8;C9JLH5;F8WE64;H7BZM9;Q0PNE2 ABBA01024689;ABBA01024690;AC099778;AK000218;AK225721;AK298202;AMYH02006694;BC000623;BC014204;CH471055;DQ787088;NM_001031703;XM_005265240;XM_005265241;XM_005265242;XM_005265243;XM_006713210;XM_006713211 AAH00623;AAH14204;ABG79574;BAA91017;BAG60472;EAW64827;EAW64828;NP_001026873;Q0PNE2;XP_005265297;XP_005265298;XP_005265299;XP_005265300;XP_006713273;XP_006713274 Hs.311100 1653055;1697234;1769774;2121642;2133544;2152174;2169231;5020274;5020740;5037552 BCD3325;D8S2279;L17809;L18441;L29699;RH102111;RH16660;RH45753;SHGC-57289;WI-22387 C3orf75;FLJ20211;TMEM103 OTTHUMP00000164800;OTTHUMP00000210419;UPF0405 protein C3orf75;angiotonin-transactivated protein 1;elongator complex protein 6;elongator complex protein 6 homolog;transmembrane protein 103 APPROVED protein-coding ENSG00000163832 HGNC:25976 07884 615020 VALIDATED 1601753 EMC3 ER membrane protein complex subunit 3 FOUND IN ER membrane protein complex; integral component of membrane; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; cobalt dichloride 3 3 3 p25.3 9941078 9963960 - 10005636 10029146 - 9963952 9987462 - 6480464 10931946;12477932;14702039;15489334;16196087;17207965;19797678;21139048;21963094;22119785;22268729;23000965;8125298 55831 C9JLM9;Q9P0I2;S4R3U9 ABBA01020396;AC018809;AC022007;AF157321;AK172843;AK222953;AK312008;AMYH02006242;AMYH02006243;BC010883;BC022807;CH471055;CQ834268;NM_018447;XM_005265321 AAF67487;AAH22807;ADQ32234;BAD18807;BAD96673;BAG34946;CAH05349;EAW64047;NP_060917;Q9P0I2;XP_005265378 Hs.475392 2121170;2132756 D3S2873E;D3S3950 POB;TMEM111 30 kDa protein;OTTHUMP00000158825;partial optokinetic response b;transmembrane protein 111 APPROVED protein-coding HGNC:23999 17426 PROVISIONAL 1605682 EMC4 ER membrane protein complex subunit 4 INVOLVED IN apoptotic process (inferred); FOUND IN ER membrane protein complex; integral component of membrane; INTERACTS WITH bleomycin A5; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 15 15 15 q14 11319812 11324924 + 34517214 34522357 + 34224997 34230165 + 6480464 11042152;12477932;14702039;15489334;16303743;16751776;18586032;21139048;21906983;21963094;22053931;22119785;24816145 51234 H0YK61;H0YKL2;H0YLP8;H0YMH5;H0YN63;H0YNK0;H0YNK8;Q5J8M3;S4R329 ABBA01038542;AC079203;AF151018;AK075227;AK290524;AK296184;AMYH02030158;AY336092;BC002583;BC016348;BG707804;CH471125;CQ783331;DB506932;NM_001286420;NM_016454 AAF36104;AAH02583;AAR24622;BAC11486;BAF83213;BAG58916;CAF86541;EAW92292;EAW92293;EAW92294;NP_001273349;NP_057538;Q5J8M3 Hs.250905 FLJ90746;MGC24415;PIG17;TMEM85 OTTHUMP00000159778;cell proliferation-inducing gene 17 protein;proliferation-inducing gene 17;transmembrane protein 85 APPROVED protein-coding ENSG00000128463 HGNC:28032 14233 VALIDATED 7375848 EMC3-AS1 EMC3 antisense RNA 1 3 3 3 p25.3 9964033 9982394 + 10001697 10048688 + 9986893 10007004 + 12477932;14702039 442075 ABBA01020396;AC022007;AK092352;AK125558;AMYH02006243;BC022834;DR004716;NR_103821 BAC03867 Hs.690469 ncrna HGNC:49223 VALIDATED 1317698 EMC9 ER membrane protein complex subunit 9 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; ER membrane protein complex; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; atrazine 14 14 14 q11.2 4472644 4475265 - 24608081 24610837 - 24138872 24141629 - 6480464;8554872 10810093;12477932;15489334;16189514;22119785;23382691 51016 H0YKG4;H0YNH6;Q9Y3B6 ABBA01061333;AF151870;AL136295;AMYH02028879;AY368908;BC002491;CH471078;NM_016049;XM_005267721;XR_245688 AAD34107;AAH02491;AAQ83690;EAW66103;EAW66104;NP_057133;Q9Y3B6;XP_005267778 Hs.271614 1659237;1687942;1730335;2182099 D14S92E;RH75843;RH78603;WI-18096 C14orf122;CGI-112;FAM158A OTTHUMP00000164685;OTTHUMP00000164687;UPF0172 protein FAM158A;family with sequence similarity 158, member A;hypothetical protein LOC51016 APPROVED protein-coding ENSG00000100908 HGNC:20273 16596 PROVISIONAL 1606492 EMC6 ER membrane protein complex subunit 6 INVOLVED IN autophagic vacuole assembly; FOUND IN ER membrane protein complex; integral component of endoplasmic reticulum membrane; integral component of membrane; INTERACTS WITH copper(2+) sulfate; valproic acid; 17alpha-ethynylestradiol (ortholog) 17 17 17 p13.2 3585832 3586704 + 3572090 3572962 + 3668723 3669669 + 6480464 12477932;15489334;16341674;22119785;23182941;24250222;24816145 83460 Q9BV81 AA161105;ABBA01054742;AC132942;AMYH02032807;BC001409;BM825446;BQ277705;BU931404;CH471108;HY014822;NM_001014764;NM_031298 AAH01409;EAW90490;NP_001014764;NP_112588;Q9BV81 Hs.30011 1760259;1767337;1847322 RH78618;SHGC-132568;SHGC-36073 MGC2963;TMEM93 transmembrane protein 93 APPROVED protein-coding ENSG00000127774 HGNC:28430 14529 VALIDATED 1322563 EMC8 ER membrane protein complex subunit 8 FOUND IN cytoplasm; ER membrane protein complex; membrane; INTERACTS WITH disodium selenite; phenobarbital; valproic acid 16 16 16 q24 70115308 70136230 - 85812230 85833161 - 85778624 85799542 - 1580863;6480464 10337626;12477932;15342556;15489334;16189514;18781797;19724895;19851296;19946888;20198315;20819778;21139048;21832049;21890473;21906983;21963094;22053931;22119785;24816145 10328 M0R1B0;O43402;Q53Y03 ABBA01034279;AC018695;AF005888;AF005889;AK313977;AMYH02032599;BC001472;BC005886;BC007445;BC020250;BE855452;BP307869;BT007132;CH471114;NM_001142288;NM_006067 AAB94489;AAB94820;AAH01472;AAH05886;AAH07445;AAH20250;AAP35796;BAG36691;EAW95439;EAW95440;NP_001135760;NP_006058;O43402 Hs.173162 1645980;1647704;1699838;2109569;2157858 NOC4_9092;RH103526;SHGC-37143;STS-AA011496;STS-AA028000 C16orf2;C16orf4;COX4NB;FAM158B;NOC4 COX4 neighbor;OTTHUMP00000175002;family with sequence similarity 158, member B;neighbor of COX4 APPROVED protein-coding ENSG00000131148 HGNC:7864 05350 604886 VALIDATED 1602125 EMC1 ER membrane protein complex subunit 1 This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012] 1 1 1 p36.13 17871571 17905031 - 19542158 19578053 - 19215664 19251559 - 6480464 12477932;14702039;15489334;16303743;16335966;16344560;16710414;17353931;20095854;20171287;21139048;21145461;21890473;21906983;22119785;22190034;22268729;22939629;23000965;7788527 23065 H7C4E3;H7C5A2;Q5TG59;Q8N766 ABBA01059754;ABBA01059755;AF086373;AK025853;AK075563;AK124379;AK124740;AK291618;AL035413;AL357564;AMYH02000420;BC016303;BC034589;BX648627;BX648708;CH471134;D42044;DB097686;NG_032948;NM_001271427;NM_001271428;NM_001271429;NM_015047;XM_005245787;XM_005245788 AAH34589;BAA07645;BAC11702;BAF84307;CAH56140;CAH56165;EAW94870;EAW94871;EAW94872;NP_001258356;NP_001258357;NP_001258358;NP_055862;Q8N766;XP_005245844;XP_005245845 Hs.439200 1687371;1696016;1732854;1771810;1775784;2131653;2163852;2176487;5015404;5015619;5016596;5016781;5022651;5117897 D11S2921;D11S3114;D1S1288;GDB:631802;GDB:631813;L17705;L17813;RH25318;SHGC-67307;SHGC-74286;SHGC-74301;SHGC-82794;WI-11429;WI-14328 KIAA0090;RP1-43E13.1 OTTHUMP00000002581;OTTHUMP00000002582;OTTHUMP00000215527;hypothetical protein LOC23065;uncharacterized protein KIAA0090 APPROVED protein-coding ENSG00000127463 HGNC:28957 08306 REVIEWED 1321326 EMC2 ER membrane protein complex subunit 2 FOUND IN cytoplasm; endoplasmic reticulum; ER membrane protein complex; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; cyclosporin A 8 8 8 q23.1 105642999 105686297 + 109455853 109499136 + 108443624 108486907 + 737633;1580863;6480464 12477932 10942595;11593002;14702039;15489334;16189514;17110338;17207965;20877624;21139048;21890473;22119785;22268729;24816145;7788527;8125298 9694 E5RGJ2;H0YAS9;Q15006 ABBA01037704;ABBA01037705;AC022634;AK057571;AK222615;AK290974;AMYH02018589;AP002088;BC007027;BC020753;BC021667;CH471060;CR457402;D14659;NM_014673 AAH20753;AAH21667;ADQ31637;BAA03493;BAD96335;BAF83663;CAG33683;EAW91920;NP_055488;Q15006 Hs.654351 1857596;2122346;2136872;2181093;5093116 A009G21;D8S1911;G32529;RH25330;RH66201 KIAA0103;TTC35 OTTHUMP00000227775;TPR repeat protein 35;tetratricopeptide repeat domain 35;tetratricopeptide repeat protein 35 APPROVED protein-coding ENSG00000104412 HGNC:28963 09657 607722 PROVISIONAL 1602050 EMC10 ER membrane protein complex subunit 10 FOUND IN ER membrane protein complex; integral component of membrane; INTERACTS WITH disodium selenite; lead(0); lead(2+) 19 19 19 q13.33 48029877 48036747 + 50979736 50986608 + 50476477 50505802 + 6480464 12477932;12975309;15146197;19570817;20379614;20680400;21906983;22119785;24250222 284361 M0QYY4;M0R030;M0R1B7;M0R2A0;Q5UCC4 ABBA01068319;AC008743;AC020909;AL512761;AMYH02036352;AY194293;AY358710;AY761095;AY761097;BC032948;BC035001;BC062607;BI914408;BX366174;CH471135;CN423491;HY107516;HY149334;NM_175063;NM_206538;XM_006723162;XM_006723163 AAH32948;AAH35001;AAO23975;AAQ89073;AAV30543;AAV30545;CAH10658;EAW71871;EAW71872;EAW71873;NP_778233;NP_996261;Q5UCC4;XP_006723225;XP_006723226 Hs.448941;Hs.515550 5016783 RH98508 C19orf63;HSM1;HSS1;INM02;MGC33203 UPF0510 protein INM02;hematopoietic signal peptide-containing;hematopoietic signal peptide-containing membrane domain-containing 1;hematopoietic signal peptide-containing membrane domain-containing protein 1;hematopoietic signal peptide-containing secreted 1 APPROVED protein-coding ENSG00000161671 HGNC:27609 14153 614545 VALIDATED 1607076 EMG1 EMG1 N1-specific pseudouridine methyltransferase This gene encodes an essential, conserved eukaryotic protein involved in ribosome biogenesis. In yeast, the related protein is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome.[provided by RefSeq, May 2010] 12 12 12 p13.3 8700963 8706185 + 7079944 7085165 + 6970781 6976003 + 6480464;6907045;7240710;8554872;8699517 11694595;11790298;11935223;12477932;15489334;15578624;15590835;16169070;16344560;17207965;18274552;18781797;18950845;19463982;19738201;21139048;21832049;21890473;22174317;22178446;22505724;22939629;23000965;23151878;24163370;24332808;24457600;24816145;7566098;8889548;9074930 10436 Q92979;V9GYP5 AA314580;ABBA01017670;AC006512;AI394112;AK291597;AK298207;AK298745;AMYH02025958;BC055314;BM709304;BQ015307;CD704778;CH471116;DA070200;DC403138;NG_021408;NM_006331;U47924;U56427;U72514 AAB51325;AAC51641;AAH55314;ADQ32241;BAF84286;BAG60477;BAG60889;EAW88694;EAW88695;EAW88696;EAW88697;EAW88698;NP_006322;Q92979 Hs.744040 1336540;1658902;1665352;1680305 D12S397;RH11325;RH26657;SHGC-33346 BWCNS;C2F;FLJ60792;Grcc2f;NEP1 18S rRNA (pseudouridine-N1-)-methyltransferase NEP1;18S rRNA Psi1248 methyltransferase;EMG1 nucleolar protein homolog;essential for mitotic growth 1;probable ribosome biogenesis protein NEP1;ribosomal RNA small subunit methyltransferase NEP1;ribosome biogenesis protein NEP1 APPROVED protein-coding HGNC:16912 12803 211180;611531 REVIEWED 1602001 EMCN endomucin EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008] 4 4 4 q24 98613843 98736427 - 101316498 101439250 - 100395341 100518093 - 6480464;8554872 11418125;11594763;12000719;12087473;12477932;12485444;14722670;15249540;15489334;18029348;20379614;21159824;21666600;22566498;8125298 51705 D6RHW5;H0YAA7;Q4W5J1;Q9ULC0 AB034695;ABBA01063682;ABBA01063683;AC097459;AF205940;AK026875;AK222741;AK291831;AK304568;AK313504;AL133118;AMYH02009804;AMYH02009805;AY039241;BC017781;BG506923;CH471057;CS104348;NM_001159694;NM_016242;XM_005263059;XM_005263061 AAF76295;AAH17781;AAK68660;AAY41011;BAA86228;BAD96461;BAF84520;BAG36284;BAG65359;CAJ01219;EAX06121;EAX06122;NP_001153166;NP_057326;Q9ULC0;XP_005263116;XP_005263118 Hs.152913 1683283;1849077;1855223;2125592;2125594;2148178;2150226;2166926;2171494;2175546;5022578;5093970 A009Z43;D1S1423;D4S444;G33030;RH98916;SHGC-24789;SHGC-36015;SHGC-50369;SHGC-50547;SHGC-51393;SHGC-59859;STS-N22495 EMCN2;MUC-14;MUC14 OTTHUMP00000161682;OTTHUMP00000219639;OTTHUMP00000219640;endomucin-2;gastric cancer antigen Ga34;mucin-14 APPROVED protein-coding ENSG00000164035 HGNC:16041 12220 608350 VALIDATED 1344240 EME2 essential meiotic structure-specific endonuclease subunit 2 EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 2035508 2038518 + 1823223 1826628 + 1773222 1776627 + 6480464 11157797;12477932;12721304;17289582;24371268;24692662 197342 A4GXA9;H3BSZ6;H3BV62 ABBA01030296;AC012180;AE006639;AK074080;AMYH02031235;BC041011;CH471112;EF452422;NM_001257370;XM_005255162 A4GXA9;AAI67808;AAK61292;ABO21766;BAB84906;EAW85626;NP_001244299;XP_005255219 Hs.7247 1698906;1796354;2180351 MRPS34_1407;RH103022;RH36357 FLJ00151;SLX2B;gs125 SLX2 structure-specific endonuclease subunit homolog B;essential meiotic endonuclease 1 homolog 2;homolog of yeast EME1 endonuclease 2;probable crossover junction endonuclease EME2 APPROVED protein-coding ENSG00000197774 HGNC:27289 16859 610886 VALIDATED 1319200 EME1 essential meiotic structure-specific endonuclease 1 This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 17 17 17 q21.33 44911870 44920109 + 48450581 48458820 + 50373220 50381459 + 1580863;6480464;6907045 12477932;12686547;12721304;14609959;14617801;14702039;15302935;15489334;16344560;16456034;16751776;17081983;18310322;18413719;18559551;19017809;19267403;19394292;19595721;19596235;19596236;19714462;20522537;20610542;20734064;21832049;21858151;21859861;21962513;24076221;24412650;24733841 146956 D6RIT8;F8W714;H0Y9Z4;Q96AY2 ABBA01041239;AC004707;AK021607;AK055926;AK308275;AMYH02033589;BC016470;CH471109;DA006645;DB245967;DQ578819;NG_029665;NM_001166131;NM_152463;XM_005257081 AAH16470;ADZ15456;BAB71047;EAW94617;EAW94618;EAW94619;EAW94620;EAW94621;NP_001159603;NP_689676;Q96AY2;XP_005257138 Hs.514330 1725759;1774306;2107047;2133631;2133633;2143934;2189513 A006I13;EME1__7583;G20838;G62125;G73139;SGC32559;WI-11424 FLJ31364;MMS4L;SLX2A;hMMS4 MMS4 homolog;OTTHUMP00000221188;OTTHUMP00000221189;OTTHUMP00000221193;SLX2 structure-specific endonuclease subunit homolog A;crossover junction endonuclease EME1;essential meiotic endonuclease 1 homolog 1;essential meiotic endonuclease 1 homolog 2;homolog of yeast EME1 endonuclease APPROVED protein-coding ENSG00000154920 HGNC:24965 610885 REVIEWED 1320036 EMILIN3 elastin microfibril interfacer 3 FOUND IN extracellular matrix (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; cyclosporin A 20 20 20 q12 36699272 36706164 - 39988606 39995498 - 41359966 41366858 - 6480464 11780052;12221002;12477932;14706625;15489334;18158787;20562859;22334695;24778252 90187 Q9NT22 AB089149;ABBA01052577;AL031667;AL137580;AMYH02037089;BC101043;BC101044;BC101045;BC101046;CH471077;NM_052846 AAI01044;AAI01046;AAI01047;BAD11034;CAB70822;EAW75983;EAW75984;NP_443078;Q9NT22 Hs.726525 2117483;2118468;2183657 RH69661;SHGC-34161;STS-R52161 C20orf130;DKFZp434A2410;EMILIN5;dJ620E11.4 EMILIN-3;EMILIN-5;OTTHUMP00000043611;elastin microfibril interface-located protein 3;elastin microfibril interface-located protein 5;elastin microfibril interfacer 5 protein-coding ENSG00000183798 HGNC:16123 12335 608929 VALIDATED 1312839 EMC7 ER membrane protein complex subunit 7 ENCODES a protein that exhibits carbohydrate binding (inferred); FOUND IN ER membrane protein complex; integral component of membrane; INTERACTS WITH bleomycin A5; valproic acid; dibutyl phthalate (ortholog) 15 15 15 q14 11178721 11196565 - 34376223 34394053 - 34084022 34101852 - 737633;6480464 12477932 10873569;12975309;15489334;17165166;18029348;21139048;21890473;21906983;21963094;21987572;22119785;22268729;22645275;23000965;24816145 56851 H0YDT8;H0YDX2;Q9NPA0 ABBA01038544;ABBA01038545;AC069045;AC079203;AF242729;AJ245874;AJ250344;AK314883;AMYH02030148;AMYH02030149;AMYH02030150;AY358445;BC012456;BC104934;BC104936;CH471125;NM_020154 AAG44477;AAH12456;AAI04935;AAI04937;AAQ88810;BAG37397;CAB96539;CAC01611;EAW92284;EAW92285;EAW92286;NP_064539;Q9NPA0 Hs.160565 1695320;5015963 CC530576;SHGC-64737 C11orf3;C15orf24;HT022;ORF1-FL1 OTTHUMP00000159729;OTTHUMP00000231951;OTTHUMP00000231952;UPF0480 protein C15orf24;chromosome 15 hypothetical ATG/GTP binding protein;chromosome 15 open reading frame 24 APPROVED protein-coding ENSG00000134153 HGNC:24301 12670 VALIDATED 1322548 EMILIN1 elastin microfibril interfacer 1 This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009] 2 2 2 p23.3-p23.2 27147777 27155615 + 27301435 27309271 + 27078567 27086403 + 1580958;1580863;6480464 16530041 10358019;10625608;10821830;11012893;11278945;12456677;12477932;14701737;15017143;15146197;15489334;16021519;16189514;16263699;16303743;17609108;17988845;18029348;18411305;18463100;18564921;19023665;19447967;19922630;20186130;20701466;21753788;22639547;22814752 11117 Q9Y6C2 ABBA01045192;AC013403;AF088916;AF162780;AK075517;AK307539;AL050138;AL552691;AMYH02003471;BC007530;BC009947;BC017284;BC090957;BC136279;BC142638;BC142688;CH471053;CN350368;KF459615;NM_007046;XM_006711928 AAD42161;AAF25006;AAH07530;AAH09947;AAI36280;AAI42689;AAX93166;CAB43287;EAX00644;EAX00645;EAX00646;EAX00647;NP_008977;Q9Y6C2;XP_006711991 Hs.63348 1338618 D2S2247 DKFZp586M121;EMI;gp115 EMILIN;EMILIN-1;OTTHUMP00000122584;elastin microfibril interface located protein;elastin microfibril interface-located protein 1 APPROVED protein-coding ENSG00000138080 HGNC:19880 00563 130660 REVIEWED 735605 EMD emerin Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008] X X X q28 153768677 153770963 + 153607597 153609883 + 154379237 154381523 + 1598907;1580863;6480464;6907045;7240710;8699517;8554872 7894480 10323252;10673356;10965799;11034899;11076863;11173535;11256614;11435115;11470279;11587540;11792821;11792822;11973618;12163176;12477932;12493765;12665801;12670476;12755701;12783988;15009215;15109603;15144186;15328537;15489334;15489336;15592455;15671068;15681850;16094384;16169070;16189514;16196087;16204256;16212419;16246140;16283426;16371512;16381901;16481476;16680152;16738646;16761279;16823856;16858403;16997877;17067998;17081983;17097067;17110338;17117676;17462627;17536044;17620012;17620497;17652388;17725712;17785515;18029348;18266676;18400857;18646565;19022376;19126678;19167051;19302538;19323649;19454010;19727227;19738201;19759913;19789182;19805454;19913121;19946888;20054742;20301609;20360068;20474083;20562859;20628086;20937808;21081666;21139048;21145461;21182205;21486941;21565611;21697856;21890473;21900206;21906983;21907836;21963094;21987572;22268729;22412018;22480903;22797925;22939629;22990118;23275444;23398456;23438482;23443559;23464991;23623980;24014020;24250222;24337577;24457600;24654937;24950247;24997722;25027693;8248200;8589715;8595407;8655156;8733135;9361031;9442884;9472006;9673989 2010 F8WEQ1;P50402;Q5HY57 ABBA01045290;AC245140;BC000738;BT007401;BX936346;CH471172;CR536536;CX781694;D64111;L44140;NG_008677;NM_000117;X82434;X86810 AAA92645;AAH00738;AAP36065;BAA10972;CAA57817;CAA60500;CAG38773;CAL38599;EAW72742;EAW72743;NP_000108;P50402 Hs.522823 1648781;1702002;1813654;1813964;1815960;1832296;1832518;2036734;2036736;2036738;2036740;2036742;2036744;2036746;2036748;2036750;2036752;2036754;2036756;2036758;2036760;2036762;2036764;2036766;2036768;2036770;2036772;5094496;5117076 ECD07850;ECD08009;ECD09020;ECD17287;ECD17398;G54831;GDB:434880;REN89376;REN89377;REN89378;REN89379;REN89380;REN89381;REN89382;REN89383;REN89384;REN89385;REN89386;REN89387;REN89388;REN89389;REN89390;REN89391;REN89392;REN89393;REN89394;REN89395;UniSTS:99059;WI-18472 EDMD;LEMD5;STA LEM domain containing 5;OTTHUMP00000031938;OTTHUMP00000064894;emerin (Emery-Dreifuss muscular dystrophy) APPROVED protein-coding ENSG00000102119 HGNC:3331 02309 300384;310300 REVIEWED 1349411 EMID1 EMI domain containing 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN collagen trimer (inferred); endoplasmic reticulum (inferred); Golgi apparatus (inferred); INTERACTS WITH zinc atom; zinc sulfate; zinc(0) 22 22 22 q12.2 13401847 13455450 + 29601901 29655586 + 29205912 29259597 + 737633;1580863;6480464;8554872 12477932 12221002;14702039;15461802;15489334;19913121;20628086;21988832;23535729 129080 B0QYK2;B0QYK3;B0QYK4;B0QYK5;F8WDX7;H0Y6W4;Q96A84 ABBA01055258;ABBA01055259;ABBA01055260;AJ416090;AK097163;AL031186;AL831910;AMYH02038198;BC013830;BC046358;CH471095;CR456407;NM_001267895;NM_133455;XM_005261328;XM_005261329;XM_005261330;XM_005261333;XM_006724132;XM_006724133;XM_006724134;XR_244351;Z95116 AAH46358;CAC94777;CAD38573;CAG30293;CAK54396;CAK54695;EAW59776;EAW59777;NP_001254824;NP_597712;Q96A84;XP_005261385;XP_005261386;XP_005261387;XP_005261390;XP_006724195;XP_006724196;XP_006724197 Hs.289106 1680589;1732067;2107049;5022578;5109281 D1S1423;D1S1425;D22S448;EMID1__7584;RH80380 EMI5;EMU1;MGC50657;hEmu1 EMI domain-containing protein 1;OTTHUMP00000198943;OTTHUMP00000198997;OTTHUMP00000198998;emilin and multimerin domain-containing protein 1;emilin and multimerin-domain containing protein 1;putative emu1 protein-coding ENSG00000186998 HGNC:18036 09936 608926 VALIDATED 1343308 EML1 echinoderm microtubule associated protein like 1 Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q32 80314618 80463271 + 100204056 100408397 + 99737721 99942060 + 1580863;6480464;8554872 10521658;11829466;12477932;14702039;1478676;16189514;19060904;20734064;21145461;24706829;24859200;8619474;9110174;9226380;9738858 2009 F8W717;G3V3J1;G3V3N9;G3V497;G3V4H6;G3V4U5;G3V500;G3V538;G3V5C8;H0YJD8;H0YJK4;H0YJS9;H0YJY3;O00423 ABBA01048545;ABBA01048546;ABBA01048547;AF035276;AJ420603;AK023861;AK126980;AK299812;AK307925;AL133368;AL136000;AMYH02029843;AMYH02029844;AMYH02029845;AMYH02029846;BC032541;BC033043;BX247979;BX420178;BX442035;CH471061;NM_001008707;NM_004434;U97018;XM_005267397;XM_005267398;XM_005267399;XM_005267400;XM_006720074 AAB57824;AAH32541;AAH33043;ABM82482;ABM85669;BAG54415;BAH13136;CAD12600;CAD62313;EAW81679;EAW81680;EAW81681;NP_001008707;NP_004425;O00423;XP_005267454;XP_005267455;XP_005267456;XP_005267457;XP_006720137 Hs.12451 1670682;1705730;1707718;1721583;1754099;1849059;1857466;2114205;2138131;2138133;2170132;2174293;5015961;5022450;5037552 A006W48;D10S275;D14S1344;D14S849;D14S880;D14S957;D15S1477;D8S2279;G35545;G59801;RH11233;SHGC-132135;SHGC-82074;SHGC-83453;WI-18369 ELP79;EMAP;EMAP-1;FLJ45033;huEMAP-1 EMAPL;HuEMAP;OTTHUMP00000246326;OTTHUMP00000246329;OTTHUMP00000246330;echinoderm microtubule-associated protein-like 1 APPROVED protein-coding ENSG00000066629 HGNC:3330 03613 602033 REVIEWED 1606414 EML3 echinoderm microtubule associated protein like 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; cobalt dichloride 11 11 11 q12.3 59699256 59709802 - 62369690 62380492 - 62602218 62612765 - 6480464;8554872 12477932;14702039;14744259;15146197;15225882;15324660;17353931;18445686;20360068;21139048;21890473;21906983;21963094;21987572;22053931;22190034;22505724;23000965;24816145;25015289 256364 B7WPE2;C9J6V3;E9PJV5;E9PSB4;G3V195;G3V1D0;H0Y3M3;H7C355;Q32P44 ABBA01003230;AK093146;AK128679;AK296901;AK310579;AL833388;AMYH02024893;AP001458;BC050467;BC075824;BC108280;CH471076;CN386216;CN386217;NM_001300793;NM_001300794;NM_153265;XM_005273876;XM_005273877;XM_005273878;XM_006718489;XM_006718490;XM_006718491 AAI08281;BAC04073;BAC87566;BAG59459;EAW74033;EAW74034;EAW74035;EAW74036;EAW74037;EAW74038;EAW74039;EAW74040;NP_001287722;NP_001287723;NP_694997;Q32P44;XP_005273933;XP_005273934;XP_005273935;XP_006718552;XP_006718553;XP_006718554 Hs.379785 2157917;2191655;2191679;5024545 D1S3695;MARC_4123-4124:996679395:1;MARC_4683-4684:996679606:1;RH46908 ELP95;EMAP-3;FLJ35827;MGC111422 OTTHUMP00000194699;OTTHUMP00000194700;OTTHUMP00000194701;OTTHUMP00000236318;OTTHUMP00000236319;OTTHUMP00000236320;echinoderm microtubule-associated protein-like 3 protein-coding ENSG00000149499 HGNC:26666 08193 VALIDATED 2302327 EML6 echinoderm microtubule associated protein like 6 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); INTERACTS WITH formaldehyde; hydrogen peroxide; methyl methanesulfonate 2 2 2 p16.1 54792667 55039644 + 54952149 55199157 + 54725012 54972025 + 6480464;8554872 19553259;20379614;22566634 400954 Q6ZMW3 ABBA01075257;ABBA01075258;ABBA01075259;AC013414;AC093110;AC104781;AK124553;AK131467;AMYH02003843;AMYH02003844;AMYH02003845;AMYH02003846;BX647078;CH471053;KF510815;NM_001039753;XM_006712016;XM_006712017 BAD18612;EAX00135;NP_001034842;Q6ZMW3;XP_006712079;XP_006712080 Hs.656692 1341458;1673126;1695218;1703292;1727485;1734938;1751547;1753099;1772571;1787916;1857096;2110991;2114068;2164416;5014051;5022200;5022651;5037552;5095213 A002P20;AB049853;Clen44;D11S2921;D2S1264;D2S1700E;D2S1848;D2S233E;D8S2278;D8S2279;G63000;L18426;RH36063;RH36073;SHGC-105348;SHGC-173660;SHGC-62924;SHGC-68401;SHGC-68479 DKFZp686G14111;EMAP-6;FLJ16635;FLJ42562 OTTHUMP00000209199;echinoderm microtubule-associated protein-like 5-like;echinoderm microtubule-associated protein-like 6 protein-coding ENSG00000214595 HGNC:35412 VALIDATED 734198 EML2 echinoderm microtubule associated protein like 2 ENCODES a protein that exhibits microtubule binding; tubulin binding; INVOLVED IN negative regulation of microtubule polymerization; regulation of microtubule nucleation; FOUND IN mitotic spindle; INTERACTS WITH 3,3',5-triiodo-L-thyronine; 5-fluorouracil; 5-formyltetrahydrofolic acid 19 19 19 q13.32 42918762 42954890 - 46112658 46148775 - 45609400 45645601 - 1580863;6480464 10521658;11694528;12477932;15489334;17353931;18029348;19322201;21693764;21906983;22589738;24318111;8125298 24139 C9JRL6;K7EII6;K7EIK7;K7EIM1;K7EIZ0;K7EJV6;K7EKG3;K7EKU5;K7EL23;K7ELB2;K7ELI8;K7EQR0;K7ERR2;K7ERR9;K7ERY9;K7ESL7;O95834 AB209773;ABBA01040936;ABBA01040937;AC006132;AC011480;AC098776;AF103939;AK026616;AK225043;AK294668;AK295905;AK296258;AK302961;AK304299;AK308403;AL096717;AMYH02036205;AMYH02036206;BC029304;BC032630;CH471126;DC366776;NM_001193268;NM_001193269;NM_012155;NR_034098;XM_006723125;XM_006723126 AAD19904;AAH32630;BAD93010;BAH11841;BAH12218;BAH12295;BAH13858;BAH14154;CAB46373;EAW57369;EAW57370;NP_001180197;NP_001180198;NP_036287;O95834;XP_006723188;XP_006723189 Hs.24178 1778165;2149116;5022578 D1S1423;RH46541;RH48306 ELP70;EMAP-2;EMAP2 echinoderm MT-associaated protein (EMAP)-like protein 70;echinoderm MT-associated protein (EMAP)-like protein 70;echinoderm microtubule-associated protein-like 2;huEMAP-2;microtubule-associated protein like echinoderm EMAP protein-coding ENSG00000125746 HGNC:18035 16860 VALIDATED 1344065 EMP2 epithelial membrane protein 2 ENCODES a protein that exhibits integrin binding; INVOLVED IN positive regulation of cell proliferation; positive regulation of cell-matrix adhesion; positive regulation of integrin-mediated signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); nucleus (ortholog); INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one; 2,3,7,8-tetrachlorodibenzodioxine 16 16 16 p13.2 10790221 10843547 - 10622279 10674539 - 10528422 10580682 - 1580863;6480464;8554872 10331954;11713717;11752456;12477932;12710941;12782127;14702039;15489334;16216233;16341674;16344560;17544801;17609206;18400107;19010852;20670949;20732626;21637765;23319000;23334331;23568457;23838430;24814193;8884260;8917086;8996089 2013 P54851 AA854747;ABBA01006794;ABBA01006795;AC027277;AF190163;AK096403;AK123602;AK127600;AK313134;AMYH02031449;AMYH02031450;AV657588;AY057060;BC009687;BC016019;BF981157;BM755118;BQ676037;BU838264;CH471112;DA752772;NM_001424;U52100;X94770;XM_006720864 AAC51779;AAH09687;AAL27085;AAQ13707;BAG35953;CAA64393;EAW85180;EAW85181;EAW85182;NP_001415;P54851;XP_006720927 Hs.531561 1649037;1679826;1686226;1689340;1763911;1765377;1766109;1852604;2143134;2153345;5015404;5016478;5016596;5020948;5022322;5022578;5037552;5117016 D11S2560;D16S3221;D1S1423;D8S2279;EMP2;G35510;GDB:434012;GDB:631802;L17705;RH65260;RH66599;RH70402;RH71236;RH81007;RH99305;SHGC-147579;SHGC-148864;SHGC-149494 EMP-2;MGC9056;NPHS10;XMP OTTHUMP00000160171;OTTHUMP00000237791 protein-coding ENSG00000213853 HGNC:3334 11893 602334;615861 VALIDATED 1313316 EMILIN2 elastin microfibril interfacer 2 INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular matrix; extracellular region; INTERACTS WITH aflatoxin B1; arsenite(3-); copper(2+) sulfate 18 18 18 p11.3 2722463 2789538 + 2846786 2914090 + 2847030 2914092 + 1580863;6480464;8554872 11278945;12477932;14702039;16751776;17698584;17988845;19913121;20360940;20379614;20628086;22268729;23593459;24324551;24374807 84034 Q9BXX0 AB026706;ABBA01049837;ABBA01049838;ABBA01049839;AF270513;AI356740;AK090519;AL552384;AMYH02034216;AP000919;AP001011;BC032231;BC136541;BX398832;CH471113;DQ590092;NM_032048 AAH32231;AAI36542;AAK37963;BAB61020;BAC03470;EAX01690;NP_114437;Q9BXX0 Hs.532815 1335178;1672316;1681388;1731721;1731741;1748615;2108755;2167399 D18S1027;D18S1098;D18S1301;D18S503;D18S513;EMILIN2__7586;RH98472;SHGC-110275 EMILIN-2;FLJ33200;FOAP-10 OTTHUMP00000158648;elastin microfibril interface-located protein 2;extracellular glycoprotein EMILIN-2 protein-coding HGNC:19881 09937 608928 VALIDATED 1342649 EMR1 egf-like module containing, mucin-like, hormone receptor-like 1 This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 19 19 19 p13.3 6829806 6881535 + 6887560 6940464 + 6887549 6940453 + 1580863;6480464;8554872 10501980;10903844;12477932;15489334;16344560;17823986;20424473;20625511;23459936;7601460;9383301;9500513 2015 A8K2Y6;A8K653;M0R2G7;Q14246 AB065918;ABBA01051477;ABBA01051478;AC020895;AC025278;AK131562;AK290401;AK291518;AK297003;AK297011;AK313495;AMYH02035362;AMYH02035363;BC059395;CH471139;CS173019;DA465986;DQ217942;NM_001256252;NM_001256253;NM_001256254;NM_001256255;NM_001974;X81479 AAH59395;ABB70739;BAC06133;BAD18695;BAF83090;BAF84207;BAG36277;BAH12472;BAH12475;CAA57232;CAJ33691;EAW69055;EAW69056;NP_001243181;NP_001243182;NP_001243183;NP_001243184;NP_001965;Q14246 Hs.2375 1775515;2133768;2134426;2179077 A004C29;G09953;SHGC-35395;STS-X81479 TM7LN3 EGF-like module receptor 1;EGF-like module-containing mucin-like hormone receptor-like 1;EMR1 hormone receptor;egf-like module containing, mucin-like, hormone receptor-like sequence 1 APPROVED protein-coding ENSG00000174837 HGNC:3336 02733 600493 REVIEWED 1351948 EML4 echinoderm microtubule associated protein like 4 INVOLVED IN negative regulation of microtubule depolymerization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 p21 42236800 42399970 + 42396490 42559688 + 42169350 42332548 + 1580863;6480464;8554872 10995578;12477932;14702039;15302935;15489334;15592455;15815621;16169070;16890222;17081983;17353931;17625570;18083107;18166835;18242762;18320074;18414414;18593892;18594010;18927303;19147828;19322201;19667264;19737969;19946888;20183914;20578368;20624322;21036415;21139048;21356191;21420271;22056890;22124476;22706607;22722791;22736493;23154565;23169500;23357247;23408463;23486270;23664446;23887300;23919423;24250222;24277751;24346098;24388371;24706829;24816145;24982409;8619474;9110174 27436 B5MBZ0;Q9HC35 ABBA01075060;AC006038;AC083949;AC096668;AF131753;AF177377;AK001804;AK021782;AK056880;AK172777;AK295778;AK314702;AL832392;AMYH02003670;AMYH02003671;AMYH02003672;AMYH02003673;BC008685;BC023522;BC038351;BC067777;BC104647;BC140845;BC146799;BX647693;BX647731;CH471053;DB471322;NM_001145076;NM_019063;XM_005264267;XM_005264268;XM_006711991;XM_006711992 AAG09279;AAH08685;AAH23522;AAI04648;AAI40846;AAI46800;AAX82006;AAY14895;AAY15086;BAA91919;BAG37250;BAG58601;EAX00324;NP_001138548;NP_061936;Q9HC35;XP_005264324;XP_005264325;XP_006712054;XP_006712055 Hs.713173 1648151;1663877;1663879;1671458;1673187;1701340;1710748;1713711;1727607;1734224;1734234;1851829;2109283;2114066;2117477;2134241;2148142;2157199;2162171;5093550 A005V45;A009Q32;AB060200;D2S1490;D2S1493E;D2S2932;EML4_9555;G16517;G20544;G32785;G63212;RH104300;RH120737;RH45622;RH47190;RH69220;SHGC-32692;SHGC-84006;STS-AA019077;WI-14803 C2orf2;DKFZp686P18118;ELP120;EMAP-4;EMAPL4;FLJ10942;FLJ32318;ROPP120 OTTHUMP00000158762;OTTHUMP00000201447;OTTHUMP00000201455;echinoderm microtubule-associated protein-like 4;restrictedly overexpressed proliferation-associated protein;ropp 120 protein-coding ENSG00000143924 HGNC:1316 06310 607442 VALIDATED 735990 EMP1 epithelial membrane protein 1 INVOLVED IN cell growth (inferred); cell proliferation (inferred); epidermis development (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH (S)-nicotine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 12 12 12 p12.3 18498531 18518631 + 13349602 13369708 + 13196668 13216774 + 1342449;1580863;6480464 9126480 10331954;12451984;12477932;12632483;15489334;16087880;19288191;20800603;20980531;21146590;21538935;23271282;23870195;24033346;24292952;24338711;24402572;7499420;8683158;8884260;8996089;9066625 2012 B4DRR1;F5GYV0;F5H2P5;F5H397;J3KQX4;P54849 ABBA01067857;AC022276;AC079628;AK299388;AK308505;AK310798;AK312246;AMYH02026069;BC017854;BC047300;CH471094;DC372133;NM_001423;U43916;U77085;Y07909;Z50751 AAC51207;AAC51783;AAH17854;AAH47300;BAG35178;BAG61373;CAA69217;CAA90627;EAW96304;EAW96305;EAW96306;NP_001414;P54849 Hs.719042 1338253;1651612;1693918;1705884;1725879;1736290;1778379;2115417;5105885 D12S1239E;D12S1580;G42649;G62401;RH69862;RH77807;RH78445;SHGC-150875;SHGC-81206 CL-20;EMP-1;TMP OTTHUMP00000239425;OTTHUMP00000239429;OTTHUMP00000239450;tumor-associated membrane protein protein-coding HGNC:3333 11892 602333 VALIDATED 1345702 EMR2 egf-like module containing, mucin-like, hormone receptor-like 2 This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor-like domains coupled to a TM7 domain via a mucin-like spacer domain. The encoded protein is expressed mainly in myeloid cells where it promotes cell-cell adhesion through interaction with chondroitin sulfate chains. This gene is situated in a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 19 19 19 p13.1 14737217 14785126 - 14843509 14889353 - 14732697 14778541 - 6480464;8554872 10903844;11297558;11994511;12428789;12477932;12761622;12829604;12860403;14647991;14702039;15057824;15150276;15203201;15498814;15693006;16918507;17056209;17174274;17449467;17620333;17928360;18267122;19124473;20167235;20237496;21174063;21503828;21906983;22035891;22310662;8125298 30817 A0JNV7;B4DQ88;B4DWB8;M0QY55;M0R0K5;Q9UHX3 AB065931;ABBA01051078;ABBA01051079;ABBA01051080;AC004262;AC005327;AC090427;AF114491;AK024426;AK024454;AK222891;AK291776;AK298690;AK298700;AK301458;AMYH02035633;BC034949;BC053933;BC082991;BC127004;BC127005;BG720310;BG721006;CH471106;CN480316;CR936819;NM_001271052;NM_013447;XM_005259884;XM_005259885;XM_005259886;XR_244067;XR_244068;XR_244069;XR_244070 AAC05172;AAC27673;AAF21974;AAH34949;AAH53933;AAI27005;AAI27006;BAB15716;BAB15744;BAC06146;BAD96611;BAF84465;BAG60850;BAG60858;BAG62980;EAW84445;EAW84446;EAW84447;EAW84448;NP_001257981;NP_038475;Q9UHX3;XP_005259941;XP_005259942;XP_005259943 Hs.531619 1689991;1797498;5037552 D8S2279;EMR2_1829;RH75658 CD312;DKFZp781B135 EGF-like module receptor 2;EGF-like module-containing mucin-like hormone receptor-like 2;egf-like module containing, mucin-like, hormone receptor-like sequence 2 APPROVED protein-coding ENSG00000127507 HGNC:3337 07308 606100 REVIEWED 1352342 EMWX episodic muscle weakness, X-linked ASSOCIATED WITH Episodic Muscle Weakness, X-Linked (inferred) 7240710 10486330 10118 1337781;1702166;7184881 DXS7104;DXS85 HGNC:3339 300211 1350172 EML5 echinoderm microtubule associated protein like 5 ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q31.3 69126811 69307471 - 89079241 89259096 - 88612431 88792752 - 6480464;8554872 12477932;14702039;15225882;19056867 161436 H0YJ79;H0YJS1;H0YJX1;Q05BV3 ABBA01030525;ABBA01030526;ABBA01030527;AK122824;AK127024;AK128086;AL121768;AL162171;AMYH02029701;AMYH02029702;AY357725;BC032685;BC042055;BC150639;BM893636;BX648569;CH471061;CR933726;NM_183387;XM_006720070;XM_006720071;XM_006720072;XR_245667;XR_429294 AAH32685;AAI50640;AAQ62653;BAC86793;BAC87266;CAI46257;EAW81393;EAW81394;NP_899243;Q05BV3;XP_006720133;XP_006720134;XP_006720135 Hs.325846 1338696;1850041;2121792;2143279;2143412;2151343;2182584;5110559;7186877 D14S1346;D14S256;G17815;G36135;G36207;RH44786;STS-F09981;WI-20639 DKFZp781D1122;EMAP-2;EMAP-5;HuEMAP-2 OTTHUMP00000244468;OTTHUMP00000244470;echinoderm microtubule-associated protein-like 5 protein-coding ENSG00000165521 HGNC:18197 16861 VALIDATED 731841 EMP3 epithelial membrane protein 3 INVOLVED IN cell growth (inferred); negative regulation of cell proliferation (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; 7,12-dimethyltetraphene 19 19 19 q13.3 45693863 45699044 + 48828629 48833810 + 48325372 48330553 + 1580863;6480464 10331954;12107182;12477932;15489334;15583422;16015083;17187361;17610521;18823699;19270820;20388442;21988832;22992787;23920144;24083241;8884260;8917086;8996089;9204931 2014 M0QXN1;M0QXS0;M0QZ66;M0R122;M0R1L9;P54852 ABBA01033000;AC008392;AL541088;AMYH02036292;BC009718;BT007124;CH471177;CR456871;CR541955;NM_001425;U52101;U87947;X94771 AAC50920;AAC51730;AAH09718;AAP35788;ABM84749;ABM92261;CAA64394;CAG33152;CAG46753;EAW52333;EAW52334;NP_001416;P54852 Hs.9999 1678189;1686286;2149081 RH44868;RH71237;RH79835 EMP-3;HNMP-1;YMP hematopoietic neural membrane protein 1 protein-coding ENSG00000142227 HGNC:3335 18514 602335 VALIDATED 1606914 EMR4P egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene This gene is a member of the EGF-TM7 receptor gene family which is thought to play a role in leukocyte adhesion and migration. In other vertebrates, including nonhuman primates, this gene encodes a protein containing N-terminal EGF domains and a C-terminal transmembrane domain. Sequence evidence for the human gene, however, indicates nucleotide deletion in the genomic sequence would result in frameshift and early termination of translation. A protein expressed by this gene would be soluble rather than expressed on the cell surface. As the encoded protein has not been detected, this gene may represent a transcribed pseudogene. [provided by RefSeq, Aug 2008] 19 19 19 p13.3 6893527 6932800 - 6952511 6990857 - 6952500 6990846 - 6480464 11181995;12477932;12565841;12679517;12731063;15203201;16753812 326342 Q86SQ3 ABBA01051478;ABBA01051479;AC025278;AF489700;AMYH02035364;AY181245;AY255550;CH471139;KF456485;KF459821;NR_024075 AAI52959;AAO27357;AAO85062;EAW69053;EAW69054 Hs.688043 EMR4;FIRE;GPR127;PGR16 APPROVED pseudo ENSG00000268758 HGNC:19240 612305 PROVISIONAL 1343015 EN2 engrailed homeobox 2 Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008] 7 7 7 q36 149674408 149681112 + 155250824 155257526 + 155458129 155464831 + 1358567;1358620;1580863;5687199;6480464;7240710;8554872 15024396;15749247;17015829 10196369;10417292;10552924;10581478;11815869;12477932;12525552;12642491;12690205;12853948;1363401;15253423;15489334;16007149;16252243;1672471;16941662;17267560;17948868;17948901;18424904;18562208;19270442;19615670;20050924;20523082;21364037;22180456;22522212;23423141;23434148;23792811;2565873;2567700;7777574;9169834;9546821;9847074 2020 P19622 ABBA01032395;AC008060;AMYH02017135;BC104970;BC104972;CH236954;CH471149;H16179;J03066;L12700;L12701;NG_007124;NM_001427 AAA53504;AAF68670;AAI04971;AAI04973;AAQ96875;EAL23909;EAX04535;NP_001418;P19622 Hs.134989 1298256;1298320;1299901;1299935;1335509;1337681;1339040;1339157;1339795;1339905;1698550;1779056;1786464;1797500;2132766;7183812;7184447;7185124;7186395;7187095 D7S1813;D7S1824;D7S2204;D7S2527;D7S2564;D7S3050;D7S480;D7S486;D7S495;D7S530;D7S640;D7S684;D7S820;D7S821;EN2;EN2_35.2;RH102827;SHGC-172649 OTTHUMP00000199895;engrailed homolog 2;engrailed-2;homeobox protein en-2;homeobox protein engrailed-2;hu-En-2 APPROVED protein-coding ENSG00000164778 HGNC:3343 08836 131310 REVIEWED 1322367 EMX2 empty spiracles homeobox 2 This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009] 10 10 10 q26.1 113031949 113039046 + 119301956 119309057 + 117542445 117549546 + 1580863;6480464;7240710;8554872 11230166;11549315;12185771;12477932;12482956;12573261;1352754;14702039;15126568;15247416;15294144;17506092;17563403;18409201;18973570;20211142;20219685;20634891;20697358;21651764;21726823;21917011;22683750;22837378;23029345;23251661;23370654;23541324;23936387;24204828;7959790;8528262 2018 Q04743 ABBA01062940;AC005871;AF301598;AI701984;AK055041;AK311352;AL161811;AMYH02023887;AMYH02023888;BC010043;CH471066;NG_013009;NM_001165924;NM_004098;X68880 AAI52826;AAK95496;BAB70842;CAA48751;CAB82104;EAW49425;NP_001159396;NP_004089;Q04743 Hs.202095 1728989;1854914 Emx2;STS-AA025104 OTTHUMP00000020578;empty spiracles homolog 2;empty spiracles homolog 2 (drosophila);empty spiracles-like protein 2;homeobox protein EMX2 APPROVED protein-coding ENSG00000170370 HGNC:3341 02495 269160;600035 REVIEWED 1352483 EMX2OS EMX2 opposite strand/antisense RNA ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH trichostatin A; valproic acid 10 10 10 q26.1 112973835 113034572 - 119243804 119304579 - 117484293 117545068 - 6480464;8554872 12477932;12573261;21112873;23936387;24324551 196047 ABBA01062940;AC005871;AK123533;AL137578;AMYH02023887;AMYH02023888;AY117034;AY117413;BC040186;HG503288;HG975393;NR_002791 Hs.312592 1773065;2148994;5014003;5020948;5022588;5037552;5118444 A004Q04;D11S3316;D17S1136;D5S1597E;D8S2279;G35510;RH11265 EMX2-AS1;FLJ41539;NCRNA00045 APPROVED ncrna ENSG00000229847 HGNC:18511 607637 PROVISIONAL 1606765 EMR3 egf-like module containing, mucin-like, hormone receptor-like 3 This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014] 19 19 19 p13.1 14623224 14678909 - 14730051 14785730 - 14619117 14674918 - 6480464;8554872 11279179;12477932;12975309;15203201;17081983;17108056;20237496;20625511;20827226;23383108 84658 A1L1B9;B7Z5A1;E7EW83;M0QYN7;M0R1G2;Q0IJ53;Q9BY15 ABBA01051075;ABBA01051076;ABBA01051077;AC022149;AC090427;AC135052;AF239764;AK290909;AK298653;AL832663;AMYH02035629;AMYH02035630;AMYH02035631;AMYH02035632;AMYH02035633;AW450761;AY358817;BC121130;BC121131;BC128053;BC142639;BC148282;CH471106;NM_001289158;NM_001289159;NM_032571;XM_005260118 AAI21131;AAI21132;AAI28054;AAI48283;AAI66661;AAK15076;AAQ89176;BAF83598;BAH12837;EAW84438;EAW84439;EAW84440;NP_001276087;NP_001276088;NP_115960;Q9BY15;XP_005260175 Hs.658712 1676176;1684892;1691054;1721593;1741585;1748473;1762071;1763319;1768479;1794814;5015861;7185938 D10S16;G59806;GDB:181546;PMC59887P1;RH40308;RH47140;RH47472;SHGC-145980;SHGC-147047;SHGC-32719;WI-18295 EGF-like module receptor 3;EGF-like module-containing mucin-like hormone receptor-like 3;egf-like module-containing mucin-like receptor 3 APPROVED protein-coding ENSG00000131355 HGNC:23647 07309 606101 REVIEWED 1351603 EN1 engrailed homeobox 1 Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008] 2 2 2 q14.2 112924401 112930414 - 119599747 119605759 - 118842171 118848183 - 1580863;5687197;5687199;6480464 17015829;19345444 11069920;11076863;11551904;12477932;1363401;15240857;15839736;16571670;16730693;18611861;18698228;19010793;19018235;19384295;19453261;19913121;20628086;20944657;21482524;21672318;21800291;24685177;2567700;7777574;8094370;8684466;9169834 2019 Q05925 ABBA01045936;ABBA01045937;AC012665;AMYH02004643;CH471103;L12698;L12699;NG_007123;NM_001426 AAA53502;AAI11841;AAX88967;EAW95205;EAW95206;NP_001417;Q05925 Hs.271977 1700810;1795770;2153816 D9S2047;EN1_604;RH104030 OTTHUMP00000162091;engrailed homolog 1;homeobox protein en-1;homeobox protein engrailed-1;hu-En-1 APPROVED protein-coding ENSG00000163064 HGNC:3342 08835 131290 REVIEWED 1315614 ENAM enamelin Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009] 4 4 4 q13.3 68851461 68869536 + 71494461 71512536 + 70628744 70646819 + 1598908;1580863;6480464;7240710;8554872;8699517 11487571 10831092;11037750;11076863;11978766;12407086;12477932;12828988;14656895;14684688;15345747;17125728;17316551;18245370;18466877;18714142;18781068;19329462;19923784;21504268;22414746;23790503;24487377;7833920 10117 Q8NFB4;Q9NRM1 ABBA01022932;ABBA01022933;AC009570;AC134919;AF125373;AF210247;AF530444;AMYH02009423;AY167999;BC117308;BC117310;BC171756;CH471057;EU482096;NG_013024;NM_031889;XM_006714056 AAF73847;AAG43242;AAI11842;AAI17309;AAI17311;AAM97323;AAN87336;ACA43029;EAX05625;NP_114095;Q9NRM1;XP_006714119 Hs.667018 1298331;1338293;1646728;1646730;1696230;2107051;7185010 D4S392;D4S395;ENAM__7588;G16825;SHGC-50734;SHGC-83585 ADAI;AI1C;AIH2 OTTHUMP00000216417;amelogenesis imperfecta 2, hypocalcification (autosomal dominant) APPROVED protein-coding ENSG00000132464 HGNC:3344 05960 104500;204650;606585 REVIEWED 1345106 EMX1 empty spiracles homeobox 1 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN brain morphogenesis (inferred); cerebral cortex neuron differentiation (inferred); cerebral cortex regionalization (inferred); FOUND IN nucleus; INTERACTS WITH valproic acid (ortholog) 2 2 2 p13.2 72995445 73012863 + 73144604 73162020 + 72917475 72934891 + 1580863;6480464 10669604;12477932;1352754;14702039;15489334;15815621;16712791;20016109;20211142;7601155;7959790;8843394 2016 F8W1B5;Q04741 ABBA01075574;AC012366;AK092368;AMYH02004070;BC037242;BC045762;BE501779;CB156771;CH471053;NM_004097;X68879;XM_005264203 AAH37242;AAH45762;AAY14744;CAA48750;EAW99755;EAW99756;NP_004088;Q04741;XP_005264260 Hs.516090 1757107;1789582;2108053 EMX1_8328;SHGC-144494;UniSTS:226151 OTTHUMP00000160200;empty spiracles homolog 1;empty spiracles homolog 1 (drosophila);empty spiracles-like protein 1;homeobox protein EMX1 protein-coding ENSG00000135638 HGNC:3340 08963 600034 VALIDATED 1347375 ENDOGL2 endonuclease G-like 2 10231028 338025 AB020735 HGNC:3348 1602126 ENDOD1 endonuclease domain containing 1 ENCODES a protein that exhibits endonuclease activity (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH aflatoxin B1; bilirubin; cobalt dichloride 11 11 11 q21 92110786 92153711 + 94822974 94865815 + 95089810 95132651 + 6480464 10048485;11921445;12477932;15489334;16344560;19946888;21906983;22190034;24816145;8619474;9110174 23052 O94919 AB020637;ABBA01040019;ABBA01040020;AF131747;AK026560;AK291673;AMYH02025374;AP000787;AP001264;BC026191;BC071171;CH471065;DA050413;NM_015036 AAH26191;AAH71171;BAA74853;BAF84362;EAW66957;NP_055851;O94919 Hs.167115 1340165;1340660;1661567;1661636;1661638;1701306;1731553;1737191 A005U34;D11S1261;D11S1788;D11S3060;D11S991;G20516;RH104282;RH11665 KIAA0830;MGC88092 OTTHUMP00000237026;endonuclease domain-containing 1 protein protein-coding ENSG00000149218 HGNC:29129 VALIDATED 1352868 ENC1 ectodermal-neural cortex 1 (with BTB domain) This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 5 5 5 q13 69818021 69832031 - 73923231 73937249 - 74627406 74641424 - 1580863;6480464;8554872 10640818;10828068;10974570;11691783;12477932;14702039;15208678;15459180;15489334;15761153;15983046;16306221;16344560;17875699;17893145;18854154;18981988;19121354;19424503;20511222;21139048;21145461;21906983;22939624;23000965;23676014;9305847;9566959;9683534 8507 D6R9D7;O14682;Q53XS2 ABBA01061930;AC026405;AF005381;AF010314;AF059611;AK096578;AK295128;AK299624;AK312608;AMYH02011573;AU120246;AY049781;BC000418;BT007392;CH471084;DA032687;DA498140;DA785554;NM_001256574;NM_001256575;NM_001256576;NM_003633;NR_046318 AAC26109;AAC39532;AAC64498;AAH00418;AAL15438;AAP36056;ABM82771;ABM85959;ACE86544;ACE87225;BAG35496;BAG53327;BAG58153;BAG61552;EAW95740;NP_001243503;NP_001243504;NP_001243505;NP_003624;O14682 Hs.104925;Hs.744844 1660572;1740029;2108055;2111414;2163123 D5S1939;D5S1949E;D5S2420;ENC1_8821;RH48110 CCL28;ENC-1;FLJ39259;FLJ57577;KLHL35;KLHL37;NRPB;PIG10;TP53I10 OTTHUMP00000128235;OTTHUMP00000222054;OTTHUMP00000222056;ectoderm-neural cortex protein 1;ectodermal-neural cortex (with BTB-like domain);ectodermal-neural cortex 1 (with BTB-like domain);kelch-like 35;kelch-like 37;kelch-like family member 37;kelch-like protein 37;nuclear matrix protein NRP/B;nuclear restricted protein, BTB domain-like (brain);p53-induced gene 10 protein;tumor protein p53 inducible protein 10 APPROVED protein-coding ENSG00000171617 HGNC:3345 05529 605173 REVIEWED 1316988 ENAH enabled homolog (Drosophila) ENCODES a protein that exhibits WW domain binding; INVOLVED IN actin polymerization or depolymerization (inferred); axon guidance (inferred); intracellular transport (inferred); PARTICIPATES IN E-cadherin signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction; cytoplasm; focal adhesion; INTERACTS WITH 17beta-estradiol; 5-fluorouracil; all-trans-retinoic acid 1 1 1 q42.12 198865129 199031134 - 225674534 225840845 - 225486832 225653143 - 1580863;6480464;6484113;8554872 10725224;10747096;10801818;10892742;11696321;12477932;12571287;12672821;12695497;12941633;12967995;1420303;14506234;14592989;14702039;15027125;15148305;15469845;15469846;15489334;15556561;16055720;16336193;16494957;16533770;16631741;16710414;16964243;16979624;17081983;17101133;17686488;18029348;18158903;18676769;18985426;19081071;19082477;19277120;19322201;19434313;19641378;20083228;20379614;21044950;21139048;21209853;21335464;21398369;21423205;21769917;21890473;21988832;22472896;22615875;22863883;23000965;23062752;23129656;23251661;23443559;23602568;23956979;23973329;24076656;24163370;24550385;9171351;9312002;9407065;9473484 55740 Q8N8S7 ABBA01009669;ABBA01009670;ABBA01009671;ABBA01009672;ABBA01009673;AC092811;AF519769;AK001635;AK025108;AK096246;AK126894;AK127561;AK290179;AL133059;AL356216;AL591380;AMYH02002786;AMYH02002787;AMYH02002788;AMYH02002789;AY345143;BC010414;BC037319;BC065238;BC095481;BQ672102;CB961874;CB991931;CH471098;EU255274;JA773083;NM_001008493;NM_018212;XM_005273182;XM_005273187;XM_005273188;XM_005273189;XM_006711786;XM_006711787;XM_006711788;XM_006711789;XM_006711790;XM_006711791;XM_006711792;XM_006711793;XM_006711794;XM_006711795;XM_006711796;XM_006711797 AAH65238;AAH95481;AAQ08487;AAR04685;ABY78022;BAA91799;BAC04736;BAC86739;BAC87036;BAF82868;CAB61384;CCG13846;EAW69747;NP_001008493;NP_060682;Q8N8S7;XP_005273239;XP_005273244;XP_005273245;XP_005273246;XP_006711849;XP_006711850;XP_006711851;XP_006711852;XP_006711853;XP_006711854;XP_006711855;XP_006711856;XP_006711857;XP_006711858;XP_006711859;XP_006711860 Hs.497893 1342153;1645315;1650367;1696176;1705464;1749631;1778552;2120672;2132811;2133319;2139455;2144748;2149867;2151919;5015404;5015961;5019985;5020635;5020946;5022576;5022588;5024413;5037552;7186488 A004U37;A008V35;AL009406;AW045240;D15S1477;D1S1361;D1S439;D5S1597E;D7S3207;D8S2279;G34817;HSC0FA082;L17705;L17877;L17971;RH16570;SHGC-111315;SHGC-76425;SHGC-76433;SHGC-76442;SHGC-76444;SHGC-79026;SHGC-83817 ENA;MENA;NDPP1 OTTHUMP00000035863;OTTHUMP00000035864;OTTHUMP00000216548;mammalian enabled;protein enabled homolog protein-coding ENSG00000154380 HGNC:18271 12360 609061 VALIDATED 1321856 ENDOG endonuclease G The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This protein is capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA. [provided by RefSeq, Jul 2008] 9 9 9 q34.1 102231564 102235740 + 131580779 131584955 + 128818500 128822676 + 1580863;6480464;6907045 11452314;12444964;12477932;15182854;15204919;15489334;16133872;17046751;17107772;17347867;18309324;18705403;18754329;19199036;19272175;19781850;20211237;20843780;20877624;21080888;21206973;21906983;21963094;21987572;22011247;22160858;22505724;23764847;23986585;24038028;24129513;24371120;25036637;7789991;9324313 2021 E5KNL5;Q14249 ABBA01043904;AK130973;AL441992;AMYH02021728;BC004922;BC016351;CH471090;HQ205306;HQ205307;HQ205308;HQ205309;HQ205310;HQ205311;HQ205312;HQ205313;HQ205314;HQ205315;HQ205316;HQ205317;HQ205318;HQ205319;HQ205320;HQ205321;HQ205322;HQ205323;HQ205324;HQ205325;HQ205326;HQ205327;HQ205328;HQ205329;HQ205330;HQ205331;HQ205332;HQ205333;HQ205334;HQ205335;HQ205336;HQ205337;HQ205338;HQ205339;HQ205340;HQ205341;HQ205342;HQ205343;HQ205344;HQ205345;NM_004435;X79444 AAH04922;AAH16351;ADP90774;ADP90775;ADP90776;ADP90777;ADP90778;ADP90779;ADP90780;ADP90781;ADP90782;ADP90783;ADP90784;ADP90785;ADP90786;ADP90787;ADP90788;ADP90789;ADP90790;ADP90791;ADP90792;ADP90793;ADP90794;ADP90795;ADP90796;ADP90797;ADP90798;ADP90799;ADP90800;ADP90801;ADP90802;ADP90803;ADP90804;ADP90805;ADP90806;ADP90807;ADP90808;ADP90809;ADP90810;ADP90811;ADP90812;ADP90813;CAA55963;EAW87837;NP_004426;Q14249 Hs.745161 2108057;2125011 ENDOG_7788;RH78082 FLJ27463;endo G OTTHUMP00000022301;endonuclease G, mitochondrial;mitochondrial endonuclease G APPROVED protein-coding ENSG00000167136 HGNC:3346 02704 600440 REVIEWED 1603336 ENHO energy homeostasis associated FOUND IN extracellular region (inferred); INTERACTS WITH cocaine; heroin; valproic acid 9 9 9 p13.3 34452540 34454537 - 34521040 34523037 - 34521042 34523039 - 6480464 12477932;12975309;19041763;20837912;22318315;22872690;23314506;23356444;24113736;24848071 375704 Q6UWT2 ABBA01065011;AI554721;AL160270;AMYH02019449;AY358658;BC022101;BQ932712;BX111579;CH471071;NM_198573 AAH22101;AAQ89021;EAW58452;NP_940975;Q6UWT2 Hs.522085 1700924;1778938;2122772 A008S42;RH104089;SHGC-32160 C9orf165;UNQ470 GAAI470;OTTHUMP00000215883;adropin;energy homeostasis-associated protein protein-coding ENSG00000168913 HGNC:24838 18263 VALIDATED 1604059 ENDOU endonuclease, polyU-specific This gene encodes a protein with protease activity and is expressed in the placenta. The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants have been found for this protein. [provided by RefSeq, Feb 2010] 12 12 12 q13.1 46900985 46916824 - 48103517 48119355 - 47709734 47725572 - 6480464;8554872 12477932;15489334;15755742;16303743;16344560;1710108;18936097;20379614;2350438;6755403 8909 B7Z7N4;P21128 ABBA01031467;AC004241;AI039727;AK075446;AK295963;AK300169;AK302308;AK314688;AMYH02026416;AX772808;BC069698;BC069715;BC074763;BC111782;CH471111;DA838842;DA841959;DC381238;M32402;M36109;NM_001172439;NM_001172440;NM_006025 AAA36464;AAA36465;AAH69715;AAH74763;AAI11783;BAG37240;BAG52139;BAH12230;BAH13227;BAH13670;CAE06253;EAW57940;EAW57941;NP_001165910;NP_001165911;NP_006016;P21128 Hs.997 1724793;2118703;2157568;2159726 D12S1892;RH122603;STS-H03346;STS-M32402 MGC133268;P11;PP11;PRSS26 22 serine protease;26 serine protease;OTTHUMP00000241830;OTTHUMP00000241831;OTTHUMP00000241832;placental protein 11;poly(U)-specific endoribonuclease;uridylate-specific endoribonuclease APPROVED protein-coding ENSG00000111405 HGNC:14369 12110 606720 REVIEWED 1602281 ENDOV endonuclease V ENCODES a protein that exhibits endoribonuclease activity, producing 5'-phosphomonoesters; single-stranded RNA binding; structure-specific DNA binding; INVOLVED IN RNA phosphodiester bond hydrolysis, endonucleolytic; DNA repair (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; INTERACTS WITH (+)-catechin 17 17 17 q25.3 75017048 75040070 + 78388965 78411886 + 80415165 80438086 + 8554872 12477932;12853604;14702039;16169070;17207965;20819778;21906983;21963094;22505724;23139746;23912683;23912718;24250222;8889548 284131 E5RFW0;E5RGZ9;E5RHX4;E5RII5;E5RJ92;H0YAY5;H0YBX8;H0YBZ5;I3L0L4;I3L1V3;I3L485;I3L4M6;I3L4V7;Q8N8Q3 ABBA01015400;AC120024;AK092539;AK096344;AK096802;AK123689;AMYH02034106;BC037889;BC045824;BC059781;BC064545;BM714470;BU553848;BX647411;CH471099;DQ500957;KC877673;NM_001164637;NM_001164638;NM_173627;XM_005257244;XM_005257246;XM_006721837;XM_006721838;XM_006721839;XM_006721840;XM_006721841;XM_006721842;XM_006721843 AAH37889;AAH45824;AAH64545;ABF47100;ADQ32588;BAC03912;BAC04765;BAC85677;EAW89602;EAW89603;EAW89604;EAW89605;EAW89606;EAW89607;EAW89608;EAW89609;EAW89610;EAW89611;EAW89612;EAW89613;EAW89614;EAW89615;NP_001158109;NP_001158110;NP_775898;Q8N8Q3;XP_005257301;XP_005257303;XP_006721900;XP_006721901;XP_006721902;XP_006721903;XP_006721904;XP_006721905;XP_006721906 Hs.728933 2180789;2183733;2183735 A002B14;G19882;RH35797 FLJ35220;MGC74455 OTTHUMP00000227085;OTTHUMP00000227086;OTTHUMP00000227089;OTTHUMP00000227169;hEndoV;hypothetical protein LOC284131;inosine-specific endoribonuclease APPROVED protein-coding ENSG00000173818 HGNC:26640 08758 VALIDATED 5132529 ENO1-AS1 ENO1 antisense RNA 1 1 1 1 p36.2 8047641 8048691 + 8938894 8939944 + 8878835 8879885 + 100505975 ABBA01035525;AL139415;AMYH02000222;NG_029470;NR_038351 Hs.429843 1700818 RH104034 APPROVED ncrna ENSG00000230679 HGNC:40214 VALIDATED 1601977 ENGASE endo-beta-N-acetylglucosaminidase This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012] 17 17 17 q25.3 73669244 73682906 + 77067565 77084685 + 79071494 79088603 + 6480464;8554872 12114544;12477932;12905469;18586680;20026047;20413512;20668520;21873561;21890473;8269854 64772 F8W925;J3QLG5;J9JID0;Q8NFI3 ABBA01002901;AC073624;AF512564;AK025518;AK301115;AL110283;AMYH02034082;BC024213;BC042158;CH471099;NM_001042573;XM_006722015;XM_006722016;XM_006722017;XM_006722018;XM_006722019;XR_429918;XR_429919;XR_429920 AAH24213;AAI56538;AAM80487;BAB15158;BAG62712;CAH56405;EAW89559;EAW89560;EAW89561;EAW89562;NP_001036038;Q8NFI3;XP_006722078;XP_006722079;XP_006722080;XP_006722081;XP_006722082 Hs.29288 1721931;2158962 G59998;RH45138 DKFZp434P174;FLJ21865 Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase;Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase;OTTHUMP00000236598;cytosolic endo-beta-N-acetylglucosaminidase APPROVED protein-coding HGNC:24622 10978 611898 VALIDATED 1351864 ENO1P1 enolase 1, (alpha) pseudogene 1 1 1 1 q43 209893472 209895277 + 236646398 236648205 + 236483098 236484905 + 1580863 12477932;20237496;2132962;8941374 2025 ABBA01033163;AL136105;AMYH02002970;NG_001115;NG_011566;X15277 2113648;2189903 99-13794;AB072753 ENO1P APPROVED pseudo HGNC:3352 INFERRED 1351093 ENG endoglin This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] 9 9 9 q34.11 101228133 101267888 - 130577291 130617052 - 127815012 127854773 - 1580959;1580960;1580961;1580962;1580963;1580964;1580965;1601038;1580863;2313795;2313806;6480464;6484113;7240710;7248782;7257552;7257530;7248779;7248783;7257524;7248770;7257525;7248775;7257540;7248780;7248784;7248778;7248769;7257529;7257526;7248771;7248788;7248767;7248776;7248777;7248785;4892132;7248781;7257538;7248768;8699517;8554872 11691802;12775886;15033991;15475654;15976502;16179574;16202216;16440600;16536758;16542389;16733295;16751653;17901886;18398016;18985316;19395281;19829664;20156938;20351341;20368095;21146604;21431419;21667051;22151990;22204709;22308016;22763474;23022174;23044046;23076642;23262399;23349951;23357179;23460287;7894484 10348742;10545596;10548503;10625079;10982033;11382917;11692035;11793473;11986954;11987155;12009077;12015308;12228247;12365720;12447690;12477932;12568406;12778073;12819391;12820370;12920067;1326540;14528280;14669355;14991534;14996436;15024723;15067342;15084601;15148318;15272276;15274325;15319534;1537377;15517393;15521985;15522964;15631865;15633211;15687131;15702480;15712270;15712271;15718503;15806144;15809709;15821778;15880681;15926713;15966703;16177881;16344560;16429404;16470589;16525724;16552334;16601078;16646406;16705692;16751767;16752392;16776339;16785228;16840721;16870672;16907850;1692830;16982625;17068149;17081563;17088457;17166870;17210583;17224686;17290185;17311868;17388964;17426082;17482348;17496924;17540773;17564791;17572488;17579118;17594108;17608955;17673527;17682823;17786384;17852832;17956952;17964708;18029348;18156205;18175241;18223685;18276933;18312453;18316564;18330257;18330824;18353434;18366008;18440621;18462791;18476626;18494936;18498373;18519764;18607909;18669913;18673552;18676680;18702104;18758636;18771978;18775991;18798555;18805961;18810471;18815549;18855162;18922939;18949376;18971528;18974388;19004009;19008959;19039203;19074480;19080433;19088371;19115106;19116719;19135290;19141403;19165674;19170196;19205515;19211612;19250924;19253312;19268655;19270816;19299629;19350449;19352388;19412349;19419943;19508727;19544399;19578796;19625176;19661015;19670444;19692168;19736306;19788614;19889225;19890661;19912365;19913121;19919302;19939849;20067780;20082874;20098615;20134268;20199197;20214506;20223440;20233512;20301525;20346360;20412114;20414677;20430360;20594474;20619547;20628086;20656886;20670156;20694148;20712008;20856203;20878063;20948996;20955379;20981476;21042283;21062661;21070126;21158752;21170488;21208277;21245995;21344387;21444673;21546842;21655651;21668763;21737454;21778318;21793708;21823022;21827221;21867402;21886815;21914777;21921088;21939291;21949130;21962138;21966395;21967607;22020071;22022569;22116456;22133666;22192717;22246909;22264588;22266931;22271899;22322190;22347366;22385575;22395512;22453150;22498340;22587951;22593212;22608563;22677372;22768148;22789855;22869457;22939629;22940691;22941564;23000880;23074273;23088614;23110221;23110859;23147994;23163119;23211052;23244127;23261267;23264219;23274166;23279628;23300529;23306069;23321791;23341958;23376845;23397382;23399955;23437230;23440993;23471755;23475485;23531181;23548068;23576184;23684116;23722869;23746240;23806447;23893879;23917399;23919827;23955456;23967299;23975255;24217170;24267784;24273904;24308064;24319055;24322015;24323303;24364465;24507660;24594997;24876084;3262645;7722302;8125298;8194490;8294451;8370410;8404038;8655583;9023056;9071813;9157574;9245986;9366572;9554745;9636649;9845534;9872992 2022 B7Z6Y5;F5GX88;P17813;Q5T9B9;Q96CG0 ABBA01043846;ABBA01043847;ABBA01043848;ABBA01043849;ABBA01043850;AF035753;AK222669;AK223044;AK290389;AK300156;AK301171;AK302455;AL157935;AL162586;AMYH02021698;AMYH02021699;BC014271;BC020391;BC031967;BT006872;CH471090;DA943458;DB079257;DQ866809;J05481;NG_009551;NM_000118;NM_001114753;NM_001278138;U37439;X72012 AAA35800;AAC32802;AAC63386;AAH14271;AAP35518;ABI75346;ABM84599;ABM86753;BAD96764;BAF83078;BAG61940;BAG63750;BAH13421;CAA50891;EAW87702;EAW87703;EAW87704;NP_000109;NP_001108225;NP_001265067;P17813 Hs.76753 1666816;1676244;1677973;1744691;1744693;1744695;1744697;1744699;1744701;1744703;1744705;1744707;1744709;1753165;1795772;1847191;2152424;2154655;2156744 ENG_443;GDB:553289;GDB:553293;GDB:553296;GDB:553300;GDB:553303;GDB:553311;GDB:553315;GDB:553319;GDB:553324;GDB:553329;RH68386;RH70059;RH79931;RH80829;SHGC-110028;SHGC-30551;STS-AA035463;STS-J05481 CD105;END;FLJ41744;HHT1;ORW;ORW1 CD105 antigen;OTTHUMP00000022221;OTTHUMP00000022222 APPROVED protein-coding ENSG00000106991 HGNC:3349 00565 131195;187300 REVIEWED 1320397 ENKUR enkurin, TRPC channel interacting protein This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 10 10 10 p12.1 24971786 25006443 - 25270908 25351208 - 24981979 25062279 - 737633;6480464 12477932 14702039;15164054;15385169;15489334;17217053;21139048;21963094;24250222 219670 L7N489;Q5VV23;Q8TC29 ABBA01034435;ABBA01034436;ABBA01034437;AK095021;AK292495;AL512598;AMYH02022479;AMYH02022480;AMYH02022481;AY454125;BC026165;BM979174;CH471072;CR936720;DA285403;NM_001270383;NM_145010;NR_072992;NR_072993;XM_006717389;XM_006717390 AAH26165;AAS45168;ABM83002;ABM86195;BAC04477;BAF85184;EAW86115;EAW86116;EAW86117;EAW86118;NP_001257312;NP_659447;Q8TC29;XP_006717452;XP_006717453 Hs.534486 1780472 stbA742G14T7 C10orf63;CFAP106;DKFZp781F21103;MGC26778 OTTHUMP00000019325;OTTHUMP00000019326;OTTHUMP00000019328;enkurin APPROVED protein-coding ENSG00000151023 HGNC:28388 12583 611025 REVIEWED 1603224 ENO1B enolase alpha, lung-specific ENO1B is an isoform of the glycolytic enzyme enolase (2-phospho-D-glycerate hydrolase; EC 4.2.1.11). It is a member of the alpha family of enolases which show widespread tissue distribution and expression in the early stages of embryonic development.[supplied by OMIM] 6480464 7689884 26237 Q05524 X66610 CAA47179;Q05524 HLE1 protein-coding 06162 6769430 ENO1P4 enolase 1, (alpha) pseudogene 4 2 2 q33.1 202486369 202488153 - 201621646 201623430 - 100885799 ABBA01062545;AC007282;AMYH02005550;NG_032696 pseudo HGNC:37945 INFERRED 3457133 ENO1P3 enolase 1, (alpha) pseudogene 3 3 3 3 122987748 122988967 - 124580944 124582163 - 124862097 124863316 - 100419069 ABBA01016432;AC022336;AMYH02007563;NG_022217 pseudo HGNC:37944 INFERRED 1353138 ENKD1 enkurin domain containing 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic microtubule; microtubule cytoskeleton; INTERACTS WITH atrazine; copper(2+) sulfate; ethyl methanesulfonate 16 16 16 q22.1 52205340 52209118 - 67696850 67700628 - 67662947 67666725 - 737633;6480464;8554872 12477932 11076863;11230166;11256614;12975309;15489334;15489336;16189514;16381901;19447967;20936779;21382349;21832049;24722188 84080 Q9H0I2;R4GN60 ABBA01025451;AC010530;AL136786;AMYH02032239;AY358834;BC008284;CH471092;NM_032140 AAH08284;AAQ89193;CAB66720;CAL37957;EAW83156;NP_115516;Q9H0I2 Hs.729159 C16orf48;DAKV6410;DKFZP434A1319 OTTHUMP00000174855;enkurin domain-containing protein 1;hypothetical protein LOC84080;uncharacterized protein C16orf48 APPROVED protein-coding ENSG00000124074 HGNC:25246 13151 PROVISIONAL 3457132 ENO1P2 enolase 1, (alpha) pseudogene 2 15 15 15 69377210 69377863 + 92965364 92966017 + 92422134 92422787 + 100419098 ABBA01053091;AC090985;AMYH02031071;NG_022137 pseudo HGNC:37943 INFERRED 1603616 ENOPH1 enolase-phosphatase 1 ENCODES a protein that exhibits acireductone synthase activity; INVOLVED IN dephosphorylation; L-methionine biosynthetic process from methylthioadenosine; PARTICIPATES IN cysteine and methionine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; cyclosporin A 4 4 4 q21.22 80643013 80673557 + 83351726 83382245 + 82430573 82461092 + 6480464;6907045;8554872 10931946;12477932;14702039;15489334;15843022;16169070;16344560;21900206;21963094 58478 D6RA00;Q9UHY7 ABBA01063435;ABBA01063436;AC067942;AC110787;AF087881;AF113125;AF177286;AK022656;AL110167;AL518796;AMYH02009597;AMYH02009598;AMYH02009599;AW470971;BC001317;BC065815;CH471057;CN335976;CR457141;DA067292;DA347866;NM_001292017;NM_021204;NR_120457;XM_005263168 AAF14866;AAH01317;AAH65815;AAP97181;AAQ13671;BAB14160;CAG33422;EAX05892;EAX05893;EAX05894;EAX05895;NP_001278946;NP_067027;Q9UHY7;XP_005263225 Hs.18442 1730121;1750249;1773818;2115651;5013979;5037324;5127275 D3S1341E;D3S1342E;D4S435E;SHGC-112490;SHGC-24654;SHGC-59489;SHGC-67407 DKFZp586M0524;E1;FLJ12594;MASA;MST145;mtnC 2,3-diketo-5-methylthio-1-phosphopentane phosphatase;MASA homolog;OTTHUMP00000160806;OTTHUMP00000219541;acireductone synthase;enolase-phosphatase E1 protein-coding ENSG00000145293 HGNC:24599 17467 VALIDATED 1351322 ENO4 enolase family member 4 ENCODES a protein that exhibits magnesium ion binding (inferred); phosphopyruvate hydratase activity (inferred); INVOLVED IN glycolytic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN phosphopyruvate hydratase complex (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chloroprene (ortholog); potassium dichromate (ortholog) 10 10 10 q25.3 112338464 112371477 + 118608741 118642112 + 116849230 116911786 + 6480464;8554872 387712 A6NI74;A6NNW6;J3KNX1;S4R3X7 ABBA01062952;AC023283;AMYH02023876;BX647301;NM_001242699;XM_005269815;XM_006717835;XM_006717836;XR_246087 A6NNW6;NP_001229628;XP_005269872;XP_006717898;XP_006717899 Hs.693248 1337209;1338320;1341938;1667181;1773788;2113080;2169744;7187488 D10S1657;D10S2449;D10S531;D10S545;RH78967;SHGC-37154;STS-R48273 AC023283.3;C10orf134;DKFZP781N1041 OTTHUMP00000020572;OTTHUMP00000204114;enolase-like protein ENO4 APPROVED protein-coding ENSG00000188316 HGNC:31670 VALIDATED 6481216 ENOX1-AS1 ENOX1 antisense RNA 1 q14.11 100874129 AL445703 APPROVED ncrna HGNC:42396 735808 ENO1 enolase 1, (alpha) This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011] 1 1 1 p36.2 8029808 8047527 - 8921059 8939151 - 8861000 8879092 - 1598909;1580863;1300048;2302799;2302802;6480464;6484113;6907045;8554872 16485256;18560153;2966075 10082554;10403782;10681589;10802057;11076863;11078745;11134351;11169399;11230166;11256614;11487543;11497239;11836316;12297304;12354300;12477932;12665801;12666133;12787059;12847697;14499622;14530346;14604964;14702039;15047060;15161933;15231747;15324660;15324934;15489334;15489336;15592455;15805119;15951569;15952740;16009940;1602151;16027165;16196087;16236267;16289162;16335966;16359544;16381901;16502470;16548883;16609991;16710414;16713569;16762917;16815975;16884686;16916647;17284257;17387692;17500595;17525734;17623298;17996313;18033204;18070418;18490439;18624398;18668562;18682748;18691435;18781797;18813785;19135240;19182206;19255486;19338310;19339807;19394292;19425054;19433310;19655245;19738201;19795461;19815544;19846662;19946888;20000738;2005901;20181627;20435467;2045099;20473970;20498720;20721957;20849415;20849852;20864512;20886042;20972266;21110914;21139048;21145461;21159241;21319273;21360494;21640210;21751384;21839816;21853274;21890473;21906983;21950004;21963094;21987572;21988832;22053931;22079093;22268729;22272336;22304920;22505724;22536838;22551201;22552009;22577163;22623332;22623428;22797925;22810585;22895339;22939629;22944692;22990118;23000965;23077236;23113677;23125841;23131860;23381546;23402259;23453885;23676977;2373081;23741361;23825951;23862649;23894455;24099319;24250222;24457600;24550385;24583282;2462567;24628430;24650096;24654937;24816145;25015289;25027693;3529090;7787969;7821789;8125298;8619474;8824716;9093905;9110174;9119380;9150948;9308760;9653645;9691177;9878089 2023 E2DRY6;K7EM90;K7ERS8;P06733 ABBA01035524;ABBA01035525;AF035286;AK098420;AK222517;AK223192;AK298600;AK309177;AK309291;AK315417;AL139415;AL833741;AMYH02000222;BC001810;BC004325;BC004458;BC009218;BC009912;BC011130;BC015641;BC021166;BC022545;BC027725;BC050642;BC113034;BT007163;BX537400;CH471130;D28437;DQ056744;EF036495;GU170215;HC893763;M14328;M55914;NG_029470;NM_001201483;NM_001428;X16287;X16288;X84907;XM_006710433 AAA35698;AAA52387;AAB88178;AAH01810;AAH04325;AAH04458;AAH09218;AAH09912;AAH11130;AAH15641;AAH21166;AAH22545;AAH27725;AAH50642;AAI13035;AAP35827;AAY43128;ABM82367;ABM85545;ABO65081;ADK47995;BAA05803;BAD96237;BAD96912;BAG37806;BAH12823;CAA34360;CAA59331;CAD97642;CAH56247;CAL38482;CBN61326;EAW71604;EAW71605;NP_001188412;NP_001419;P06733;XP_006710496 Hs.517145 1685351;1686728;1700818;1744635;2135465;2162577;2187558;2189903;5020871;5492011 99-13794;D10S2138;GDB:549140;RH104034;RH64843;RH93736;SHGC-57235;SHGC-74193;STS-X51804;ksks293 ENO1L1;MBP-1;MPB-1;MPB1;NNE;PPH 2-phospho-D-glycerate hydro-lyase;C-myc promoter-binding protein;MYC promoter-binding protein 1;OTTHUMP00000001706;alpha enolase like 1;alpha-enolase;alpha-enolase; c-myc promoter-binding protein-1;c-myc promoter-binding protein 1;c-myc promoter-binding protein-1;enolase 1, alpha;enolase-alpha;non-neural enolase;phosphopyruvate hydratase;plasminogen-binding protein;tau-crystallin APPROVED protein-coding ENSG00000074800 HGNC:3350 01400 172430 REVIEWED 6481217 ENOX1-AS2 ENOX1 antisense RNA 2 q14.11 100874130 AL138823;CR739820;NR_120399 Hs.738887 APPROVED ncrna HGNC:42397 VALIDATED 1605985 ENOX1 ecto-NOX disulfide-thiol exchanger 1 Electron transport pathways are generally associated with mitochondrial membranes, but non-mitochondrial pathways are also biologically significant. Plasma membrane electron transport pathways are involved in functions as diverse as cellular defense, intracellular redox homeostasis, and control of cell growth and survival. Members of the ecto-NOX family, such as CNOX, or ENOX1, are involved in plasma membrane transport pathways. These enzymes exhibit both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity in series, with each activity cycling every 22 to 26 minutes (Scarlett et al., 2005 [PubMed 15882838]).[supplied by OMIM, Mar 2008] 13 13 13 q14.11 24843864 25417275 - 43787335 44361116 - 43213130 43786980 - 6480464;8554872 11360993;12477932;14702039;15882838;16169070;16189514;16341674;16344560;18029348;19055324;20379614;21890473;22491018;22744667;23377640;23381943;23939472;24250222;24457600 55068 B7Z5K1;Q8TC92 ABBA01021240;ABBA01021241;ABBA01021242;ABBA01021243;ABBA01021244;ABBA01021245;ABBA01021246;ABBA01021247;AK000956;AK055477;AK299053;AL136959;AL138823;AL161714;AL162713;AL445703;AL607148;AL627430;AMYH02027942;AMYH02027943;AMYH02027944;AMYH02027945;AMYH02027946;AY513282;BC024178;BC068521;BM551661;BM834061;CH471075;DA512678;DA779748;DB058776;DB092904;EF432052;KF455774;NM_001127615;NM_001242863;NM_017993;XM_005266438;XM_005266439;XM_006719841;XM_006719842 AAH24178;AAT08035;ABO28524;BAA91442;BAH12937;EAX08691;EAX08692;EAX08693;EAX08694;EAX08695;NP_001121087;NP_001229792;NP_060463;Q8TC92;XP_005266495;XP_005266496;XP_006719904;XP_006719905 Hs.128258 1337128;1661999;1705004;1706672;1715829;1720925;1726335;1726791;1749005;1753079;1756223;1763289;1779356;1782956;2111756;2158468;2175802;5123445 D13S1645;D13S623;D13S748;G17767;G59292;G62468;G62785;RH119611;SHGC-110645;SHGC-143093;SHGC-147014;SHGC-153353;SHGC-156250;SHGC-68335;SHGC-78011;SHGC-82832;UniSTS:80539;WI-4237 CNOX;FLJ10094;FLJ30915;PIG38;bA64J21.1;cCNOX OTTHUMP00000018332;candidate growth-related and time keeping constitutive hydroquinone (NADH) oxidase;candidate growth-related and time keeping constitutive hydroquinone [NADH] oxidase;cell proliferation-inducing gene 38 protein;constitutive Ecto-NOX;proliferation-inducing protein 38 APPROVED protein-coding ENSG00000120658 HGNC:25474 07644 610914 VALIDATED 733932 ENO2 enolase 2 (gamma, neuronal) This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008] 12 12 12 p13 8642227 8651475 + 7023614 7032860 + 6914450 6923696 + 1580863;2293735;2293746;2293740;2293741;2293747;2293737;2302795;2293739;2293742;2302804;2293734;2293743;2293748;2293751;2293738;2293736;2293745;2293753;5508770;5508782;5508769;5508787;5509052;6480464;6907045 12656306;15010880;15239127;15464860;15720133;15780189;16044081;16608642;17083782;17345775;17532790;17537454;17683050;17951193;18156975;18343116;18459456;18511206;20105309;20847541;21130083;21293918;8255543 11881792;11919335;11935405;11983209;11985791;12353304;12477932;12581805;12636057;14631087;14702039;15289101;15489334;15592455;15951569;16027165;16169070;16236267;16335966;16411755;16978415;17436063;17618570;18063947;18460190;18609108;18783450;19074885;19204726;19220958;19221293;19221847;19307814;19405953;19445653;19540138;20348052;20381070;2045099;20495226;20537424;20686797;20873151;21044950;21110914;21139048;21145461;21149784;21163940;21165441;21319273;21358174;21368691;21553520;21587126;21775743;21815777;21824428;21846577;21853274;21868318;21877195;21924039;21963094;21976236;21987572;21994954;21995595;22088515;22256771;22300752;22360420;22437160;22452413;2249478;22505724;22551201;22582497;22674301;22797925;22863883;22893673;22895339;22932993;23000965;23074103;23208248;23212584;23380091;23406753;23438682;23564292;23713736;23725171;23775010;23796187;23842744;23889347;23992005;23996295;24337577;24375395;24654937;24659657;24816145;25015289;2792767;3208766;3385803;3653393;3974199;7682534;8035205;8264236;9074930 2026 F5H0C8;F5H1C3;P09104;Q6FHV6;U3KQP4;U3KQQ1 ABBA01017666;ABBA01017667;ABBA01017668;AK124656;AK290525;AK295220;AK312402;AMYH02025957;BC002745;BT007383;CH471116;CR536582;EU794607;HC893847;KF511186;M22349;M36768;NM_001975;U47924;X13120;X14327;X51956;Y00691 AAA52388;AAB51320;AAB59554;AAH02745;AAP36047;ABM84745;ABW03619;ACJ13661;BAF83214;BAG35316;BAG54062;BAH12015;CAA31512;CAA32505;CAA36215;CAG38819;CBN61368;EAW88709;EAW88710;EAW88711;NP_001966;P09104 Hs.511915 1668496;1693756;1742901;1743985;1795774;2133406;2168225 D12S1899;ENO2_37;G10506;GDB:214837;GDB:384728;SHGC-58828;STS-U72508 HEL-S-279;NSE 2-phospho-D-glycerate hydro-lyase;2-phospho-D-glycerate hydrolyase;OTTHUMP00000239836;OTTHUMP00000239837;OTTHUMP00000239839;OTTHUMP00000239840;enolase 2, gamma;epididymis secretory protein Li 279;gamma-enolase;neural enolase;neuron specific gamma enolase;neuron-specific enolase;neurone-specific enolase APPROVED protein-coding ENSG00000111674 HGNC:3353 00573 131360 REVIEWED 1345108 ENOX2 ecto-NOX disulfide-thiol exchanger 2 This gene is a tumor-specific member of the ECTO-NOX family of genes that encode cell surface NADH oxidases. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidation, and protein disulfide interchange. The protein also displays prion-like properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X q25 130143767 130423625 - 129757355 130037219 - 130623379 130903317 - 1580863;6480464;8554872 10354495;11412089;11437345;11488599;11825610;11888291;11941450;12356293;12477932;14702039;15489334;15706060;15772651;16189514;16344560;18023414;18029348;18351130;18789934;1888291;19734125;20345278;20922471;21571040;21625959;21988832;22659163;23602568;23667531;24457600;8150545;9046026;9932650 10495 B1AKF7;Q16206;Q32ND0 ABBA01047946;ABBA01047947;ABBA01047948;ABBA01047949;ABBA01047950;ABBA01047951;ABBA01047952;ABBA01047953;ABBA01047954;ABBA01047955;ABBA01047956;ABBA01047957;ABBA01047958;ABBA01047959;ABBA01047960;ABBA01047961;ABBA01047962;ABBA01047963;ABBA01047964;ABBA01047965;ABBA01047966;ABBA01047967;ABBA01047968;ABBA01047969;ABBA01047970;ABBA01047971;ABBA01047972;AF207881;AI540639;AK000353;AK289812;AK289837;AL022153;AL049565;AL049733;AL133207;AL591908;AMYH02040486;AMYH02040487;AMYH02040488;AMYH02040489;AMYH02040490;AMYH02040491;BC019254;BC108713;BC139781;BC140874;BU160341;CH471107;CS461240;DB128861;KF459402;KF459406;NG_012562;NM_001281736;NM_006375;NM_182314;S72904;XM_005262354;XM_005262355;Z80232 AAB30428;AAF20934;AAH19254;AAI08714;AAI39782;AAI40875;BAF82501;BAF82526;CAB61581;CAM12255;EAX11796;EAX11797;NP_001268665;NP_006366;NP_872114;Q16206;XP_005262411;XP_005262412 Hs.171458 1645738;1650746;1661900;1662542;1674392;1691564;1691616;1691642;1724899;1770607;1777333;1778923;1855199;2115195;2116563;2120042;2134403;2136899;2140935;2143669;2155021;2155945;2156090;2156885;2161136;2165433;2173449;5093818 A009X18;AFM289vf9;AFM319YH5;AL008918;AL023931;AL032587;AL032598;AL032617;D11S982;DXS6756;DXS7139;DXS7406;DXS7648;DXS7676;DXS8261;DXS8305;G18234;G32942;L77627;L77640;L77651;L78004;L78005;L78119;RH119214;RH16270;RH65046;SHGC-34380 APK1;COVA1;tNOX APK1 antigen;OTTHUMP00000024021;OTTHUMP00000024022;cytosolic ovarian carcinoma antigen 1;tumor-associated hydroquinone oxidase APPROVED protein-coding ENSG00000165675 HGNC:2259 02234 300282 REVIEWED 1346972 ENOSF1 enolase superfamily member 1 This gene was originally identified as a naturally occurring antisense transcript to the human thymidylate synthase gene. Alternate splice variants have been described, one of which (named rTSalpha) represents an alternate 3'UTR that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and down-regulates TS expression. Other transcript variants (rTSbeta and rTSgamma) do not overlap the TS locus. The function of this gene appears to be primarily to regulate expression of the TS locus both via the antisense transcript as well as through the encoded proteins. [provided by RefSeq, Mar 2010] 18 18 18 p11.32 546854 586968 - 670324 712662 - 670324 712662 - 1580863;6480464 12477932;14508106;14702039;15342556;16162288;18427977;18635682;19190136;20458436;20485444;20565774;21963094;24697329;8493092;8764108;8889548;9381988 55556 J3QL81;J3QL99;J3QSB6;Q7L5Y1;R4GNF8;X6RM24 ABBA01049817;ABBA01049818;AF305057;AK093873;AK127219;AK127818;AK292780;AK295850;AK309035;AMYH02034190;AMYH02034191;AP001178;AW001055;AW082251;BC001285;BF591232;BG679404;BM981714;BP265528;BP271162;BQ017246;BQ028926;BQ645002;BQ710874;BX648215;CH471113;NM_001126123;NM_017512;NM_202758;X67098;X89602;XM_005258118;XR_243810;XR_243811;XR_430041;XR_430042;XR_430043;XR_430044;XR_430045 AAG29536;AAG29537;AAH01285;BAC87148;BAF85469;BAG52778;BAG54456;BAG58656;CAA47471;CAA47472;CAA61761;EAX01711;EAX01712;EAX01713;EAX01714;EAX01715;NP_001119595;NP_059982;NP_974487;Q7L5Y1;XP_005258175 Hs.658550;Hs.731510;Hs.732707 1646236;1658975;1659267;1669735;1741603;1797014;1848893;1848895;1853432;1854638;2145493;2171780;2176206;2181169;5014019;5022322;5022651;5093898;5118718 A009Y30;D11S2560;D11S2921;D11S3590;D18S1240;D18S1296;D18S1308;D5S2354;G32989;GDB:181558;RH11010;RH12256;RH79165;SHGC-33721;SHGC-60027;STS-R71238;STS-T92929;STS-X67098;TYMS_1340 HSRTSBETA;RTS L-fuconate dehydratase;OTTHUMP00000162191;OTTHUMP00000162192;TYMSAS;antisense RNA to thymidylate synthase;mitochondrial enolase superfamily member 1;rTS alpha;rTS beta APPROVED protein-coding ENSG00000132199 HGNC:30365 607427 VALIDATED 732266 ENPEP glutamyl aminopeptidase (aminopeptidase A) ENCODES a protein that exhibits aminopeptidase activity; metalloaminopeptidase activity; metallopeptidase activity; INVOLVED IN cell migration; cell proliferation; regulation of systemic arterial blood pressure by renin-angiotensin; PARTICIPATES IN angiotensin III signaling pathway; renin-angiotensin cascade pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; lysosomal membrane; apical part of cell (ortholog); INTERACTS WITH 2-naphthylamine; all-trans-retinoic acid; cyclosporin A 4 4 4 q25 108691011 108778278 + 111397229 111484493 + 110476073 110563337 + 1581742;1580863;6480464;6907045;8554872 15638741 11390025;12477932;12614948;14998491;15048132;15489334;16335952;16344560;1756856;17603472;17850355;17897319;17990103;17999179;18029348;18188697;18206321;18410507;18550936;18677709;19056867;19187443;19373777;19608358;20332099;20379614;21572416;21697726;21886157;2364374;23888046;24098452;8244382;8346219;8804068;9062131;9268642 2028 H0YA67;Q07075 ABBA01063799;AC017068;AC098798;AI640493;AK313412;AL568777;AM888273;AM888274;AM888275;AM888276;AM888277;AM888278;AM888279;AM888280;AM888281;AM888282;AM888283;AMYH02009911;AMYH02009912;BC094770;BG400415;BX641012;CH471057;DB070526;L12468;L14721;NM_001977 AAA16876;AAA35522;AAH94770;BAG36206;CAP09197;CAP09198;CAP09199;CAP09200;CAP09201;CAP09202;CAP09203;CAP09204;CAP09205;CAP09206;CAP09207;EAX06261;NP_001968;Q07075 Hs.435765 1660525;1716941;1721293;2217308 ENPEP_3974;G59643;RH121850;SHGC-59530 AP-A;APA;CD249;EAP;gp160 OTTHUMP00000163369;aminopeptidase A;differentiation antigen gp160;glutamyl aminopeptidase protein-coding HGNC:3355 08848 138297 VALIDATED 1342953 ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ENCODES a protein that exhibits sphingomyelin phosphodiesterase activity; INVOLVED IN negative regulation of cell proliferation; negative regulation of DNA replication; sphingomyelin metabolic process; PARTICIPATES IN sphingolipid metabolic pathway; FOUND IN Golgi apparatus; microvillus; INTERACTS WITH 1H-imidazole; amiodarone; ATP 17 17 17 q25.3 74329818 74341104 + 77704882 77716021 + 79730919 79742222 + 6480464;6907045 12477932;12671034;12885774;12975309;14702039;15016655;15340161;15458386;15489334;15708357;16255717;16344560;19850743;20839774;22177013 339221 I3L3G5;Q6UWV6 ABBA01013832;AC105337;AC233701;AK126250;AK128662;AMYH02034087;AY230663;AY358622;BC041453;CH471099;DB187443;NM_178543;XM_005277785 AAH41453;AAP69661;AAQ88985;BAC86504;EAW89566;NP_848638;Q6UWV6;XP_005277842 Hs.114084 1701334;1780012 RH104297;SHGC-154261 ALK-SMase;E-NPP 7;MGC50179;NPP-7;NPP7 alkaline sphingomyelin phosphodiesterase;alkaline sphingomyelinase;ectonucleotide pyrophosphatase/phosphodiesterase family member 7;intestinal alkaline sphingomyelinase protein-coding ENSG00000182156 HGNC:23764 VALIDATED 1318608 ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) ENCODES a protein that exhibits bis(5'-adenosyl)-triphosphatase activity; INVOLVED IN positive regulation of blood coagulation; purine ribonucleoside catabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A 6 6 6 p21.1 47650241 47666973 + 46097701 46114436 + 46129964 46146699 + 6480464;8554872 10048485;11027689;12477932;16344560;19056867;19946888;22995898;24338010 22875 Q9Y6X5 AB020686;ABBA01050622;AJ420515;AK291276;AL035701;AMYH02013681;BC018054;BI548305;CA433087;CH471081;CS265750;DA261977;NM_014936 AAH18054;ABM83258;ABM86463;BAA74902;BAF83965;CAJ78397;EAX04292;NP_055751;Q9Y6X5 Hs.643497 1683443;1691182;2161948;2170565 RH68105;RH91244;RH93605;STS-AA037785 E-NPP 4;KIAA0879;NPP-4;NPP4 AP3A hydrolase;AP3Aase;OTTHUMP00000016541;bis(5'-adenosyl)-triphosphatase ENPP4;ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative function);ectonucleotide pyrophosphatase/phosphodiesterase family member 4 APPROVED protein-coding ENSG00000001561 HGNC:3359 16862 VALIDATED 732414 ENO3 enolase 3 (beta, muscle) This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010] 17 17 17 p13.2 4869195 4875237 + 4853404 4860426 + 4950109 4957131 + 1580863;1300048;2301765;6480464;6907045;7240710;8554872;8699517 8594891 12477932;15188056;15489334;16344560;18029348;1840492;18468620;19472918;20800603;21110914;21139048;21347838;21565611;21832049;21853274;21963094;21987572;22939629;23000965;2336366;24816145;2587223;8513787;8681137 2027 E5RG95;E5RGZ4;E5RI09;E5RJH5;K7EKN2;K7EP84;K7EPM1;P13929 ABBA01054784;AC004771;AC109333;AK300662;AK300673;AK300709;AK309864;AL359213;AMYH02032838;AU143784;BC017249;BJ995304;CH471108;DA082822;DA566866;F26358;NG_012063;NM_001193503;NM_001976;NM_053013;X16504;X51957;X55976;X56832;XM_005256521 AAH17249;ABM83548;ABM86788;BAG62348;BAG62358;BAG62388;CAA34513;CAA36216;CAA39446;CAA40163;CAB94588;EAW90375;EAW90376;EAW90377;EAW90378;EAW90379;EAW90380;NP_001180432;NP_001967;NP_443739;P13929;XP_005256578 Hs.224171 1736945;1741321;1742597;1855090;5119725 D17S1578;GDB:180430;GDB:180954;GDB:197917;RH16241 GSD13;MSE 2-phospho-D-glycerate hydro-lyase;2-phospho-D-glycerate hydrolyase;OTTHUMP00000125242;OTTHUMP00000227662;OTTHUMP00000227666;OTTHUMP00000227667;beta-enolase;enolase 3, beta;muscle specific enolase;muscle-specific enolase;skeletal muscle enolase APPROVED protein-coding ENSG00000108515 HGNC:3354 11746 131370;612932 REVIEWED 1349666 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014] 6 6 6 p21.1-p11.2 47680299 47691261 - 46126922 46138737 - 46159185 46171000 - 1580863;6480464 11027689;12477932;12975309;15489334;17207965 59084 B4DHN2;Q9UJA9 ABBA01050622;AK292842;AK295192;AK312790;AL035701;AMYH02013681;AY358514;BC027615;BF593433;BX647968;CH471081;DC321540;DC332590;NG_033986;NM_001290072;NM_001290073;NM_021572;XM_005249259;XM_005249260 AAH27615;AAQ88878;ADQ31781;BAF85531;BAG58194;EAX04293;NP_001277001;NP_001277002;NP_067547;Q9UJA9;XP_005249316;XP_005249317 Hs.35198 2107053 ENPP5__7592 E-NPP 5;KIAA0879;NPP-5 OTTHUMP00000016542;OTTHUMP00000016543;ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative function);ectonucleotide pyrophosphatase/phosphodiesterase family member 5 APPROVED protein-coding ENSG00000112796 HGNC:13717 13272 REVIEWED 7257041 ENPP7P10 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 10 4 4 4 8963971 9027272 + 9080684 9143334 + 9078958 9141608 + 100421805 ABBA01016357;AC073648;AC108519;AMYH02008706;NG_025193 pseudo HGNC:48693 INFERRED 1344691 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. [provided by RefSeq, Jul 2008] 6 6 6 q22 132705081 132815647 + 131958375 132068550 + 131637235 131747410 + 1580863;6480464;6907045;8554872 10513816;10524196;11342463;14533006;14574404;15031605;15072822;15886225;16344560;17275019;18760862;19056867;19418203;20047266;20159259;20379614;20467438;20975283;21090681;22268729;22722613;23149075;23581640;23960081;24497482;9344668 5169 B0AZV2;E7ETI7;E9PDB4;F8W6H5;O14638;Q308M7 ABBA01025887;ABBA01025888;ABBA01025889;AC005587;AF119714;AK024899;AK226107;AK292903;AK296080;AK309080;AK310691;AK315893;AL121575;AL135904;AL355150;AMYH02014494;AMYH02014495;CH471051;DB230886;DB239180;DQ234347;EF560735;JA122378;JB364565;NG_033982;NM_005021;XR_245539 AAD05192;AAD46160;AAI41435;AAI46580;ABB29976;ABQ59045;BAF85592;BAF98784;BAG58836;CAB99214;CCA64000;CDH92907;EAW48044;EAW48045;EAW48046;NP_005012;O14638 Hs.486489 1673528 GDB:1318364 B10;CD203c;NPP3;PD-IBETA;PDNP3 E-NPP 3;OTTHUMP00000017901;dJ1005H11.3 (phosphodiesterase I/nucleotide pyrophosphatase 3);dJ914N13.3 (phosphodiesterase I/nucleotide pyrophosphatase 3);ectonucleotide pyrophosphatase/phosphodiesterase family member 3;gp130RB13-6;phosphodiesterase I beta;phosphodiesterase I/nucleotide pyrophosphatase 3;phosphodiesterase-I beta APPROVED protein-coding ENSG00000154269 HGNC:3358 03715 602182 REVIEWED 7249999 ENPP7P2 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 2 3 3 3 75445230 75488422 - 75495916 75540354 - 75446765 75491203 - 100421813 ABBA01030984;ABBA01030985;AC139453;AMYH02007087;AMYH02007088;NG_025593 pseudo HGNC:48685 INFERRED 1323210 ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 ENCODES a protein that exhibits glycerophosphocholine cholinephosphodiesterase activity; phosphoric diester hydrolase activity; INVOLVED IN choline metabolic process; lipid metabolic process; FOUND IN extracellular region; extracellular vesicular exosome; plasma membrane; INTERACTS WITH cyclosporin A; pirinixic acid; silicon dioxide 4 4 4 q35.1 182338726 182467954 - 185009859 185139114 - 184088706 184217961 - 6480464 12477932;12975309;14702039;15489334;15788404;19056867 133121 D6R9P1;Q6UWR7 ABBA01070512;AC079080;AC107222;AK021943;AK057370;AMYH02010648;AY358676;BC035035;CH471056;NM_153343 AAH35035;AAQ89039;AAY40908;BAB71455;EAX04683;NP_699174;Q6UWR7 Hs.297814 1340962;1643945;1652863;1708360;1752633;1756845;1778336;2121361;2125623;2147539 D4S1179;D4S1221;D4S2954;D4S977;G34071;G41971;SHGC-106445;SHGC-144005;SHGC-50702;SHGC-81154 E-NPP 6;GPC-Cpde;MGC33971;NPP-6;NPP6 B830047L21Rik;OTTHUMP00000218588;choline-specific glycerophosphodiester phosphodiesterase;ectonucleotide pyrophosphatase/phosphodiesterase family member 6;glycerophosphocholine cholinephosphodiesterase protein-coding ENSG00000164303 HGNC:23409 16863 VALIDATED 7250934 ENPP7P11 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 11 4 4 4 10159238 10159864 + 9678932 9679558 + 9677308 9677934 + 100421806 ABBA01032504;AC105916;AMYH02008741;NG_025195 pseudo HGNC:48694 INFERRED 1351327 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008] 6 6 6 q22-q23 132876272 132963416 + 132129156 132216295 + 131808016 131895155 + 1625124;1601044;1601043;1601042;1601041;1580863;6480464;6907045;6906927;6906928;6906933;6906926;6906934;6906931;6906932;6906930;7240710;8554872;8699517 10453738;10480624;12147787;15940697;16025115;17347799;18184924;19506043;20016754;20137772;20137773;21282363;21602183 10513816;10524196;10615944;11159191;11289049;11473061;11739459;11771660;11916943;12126783;12147786;12441313;12477932;12483464;12547881;12715715;12740448;12746903;12881724;1315502;14514598;14574404;14671192;15001634;15045693;15072822;15126519;15374726;15489334;15677494;15793263;15802034;15834329;16186408;16207325;16231022;16272817;16278247;16527214;16607460;16609882;16865358;16936213;16941279;16968801;17026496;17043047;17065358;17065359;17129580;17143316;17192490;17228024;17287921;17367703;17491709;17493546;17563456;17606264;17704904;17719609;17848394;17849011;17897319;17986276;18071025;18176722;18222177;18389334;18426862;18464750;18498634;18551113;18583883;18657335;18664022;18690303;18719658;18760862;18776139;18823720;18940878;18948963;18950909;19017751;19046915;19056482;19083193;19086938;19107338;19206175;19368707;19374858;19399648;19403348;19420105;19453261;19577557;19578796;19643578;19656007;19679831;19692168;19876004;19888898;19913121;19931660;20015201;20091022;20092902;20176643;20186155;20200332;20231843;20428609;20446819;20467438;20503258;20562859;20628086;20709678;20820885;20958205;20981035;21076580;21090681;21153685;21162834;21195542;21198320;21452007;21565692;21573217;21647535;21738662;21810932;2211644;22136912;22209248;22231969;22327785;22366713;22402064;22484154;22826605;22842219;22846899;22899099;23012391;23111648;23122642;23251661;23422753;23433854;23451554;23861746;24075184;24222241;24338010;24371178;7737162;7830796;8001561;8040311;9344668;9553761 5167 E9PE72;P22413 AB032016;ABBA01025886;ABBA01025887;AF067177;AF067178;AF110280;AF110281;AF110283;AF110284;AF110285;AF110286;AF110287;AF110288;AF110289;AF110290;AF110291;AF110292;AF110293;AF110294;AF110295;AF110296;AF110297;AF110298;AF110299;AF110300;AF110301;AF110302;AF110303;AF110304;AJ242020;AK314870;AL117378;AL139805;AMYH02014496;AMYH02014497;AMYH02014498;BC033008;BC059375;BX537580;CH471051;D12485;M57736;NG_008206;NM_006208;XM_005267017 AAA63237;AAD38420;AAD38421;AAF36094;AAH59375;BAA02054;BAA97562;BAG37385;CAC39442;CAD97789;EAW48041;EAW48042;NP_006199;P22413;XP_005267074 Hs.527295 1342087;1645998;1665309;1680228;1685257;1721399;1727927;1767105;1800678;1800828;1801514;1802208;1802510;1803154;1804156;1805198;1807246;1808688;1811170;1812128;1812198;1813352;1813910;1814652;1816416;1816794;1818704;1821886;1824052;1824842;1825550;1825938;1826018;1828096;1830460;1830962;1834952;1837726;1837780;1839430;1839618;1840180;1842152;1844058;1845622;1846408;1855466;1916358;1916360;1916362;1916364;1916366;1916368;1916370;1916372;1916374;1916376;1916378;1916380;1916382;1916384;1916386;1916388;1916390;1916392;1916394;1916396;1916398;1916400;1916402;1916404;1916406;1916408;1916410;1916412;1916414;1916416;1916418;1916420;1916422;1916424;1916426;1916428;1916430;1916432;1916434;1916436;1916438;1916440;1916442;1916444;1916446;1916448;1916450;1916452;1916454;1916456;1916458;1916460;1916462;1916464;1916466;1916468;1916470;1916472;1916474;1916476;1916478;1916480;1916482;1916484;1916486;1916488;1916490;1916492;1916494;1916496;1916498;1916500;1916502;1916504;1916506;1916508;1916510;1916512;1916514;1916516;1916518;1916520;1916522;1916524;1916526;1916528;1916530;1916532;1916534;1916536;1916538;1916540;1916542;1916544;1916546;1916548;1916550;1916552;1916554;1916556;1916558;1916560;1916562;1916564;1916566;1916568;1916570;1916572;1916574;1916576;1916578;1916580;1916582;1916584;1916586;1916588;1916590;1916592;1916594;1916596;1916598;1916600;1916602;1916604;1916606;1916608;1916610;1916612;1916614;1916616;1916618;1916620;1916622;1916624;1916626;1916628;1916630;1916632;1916634;1916636;1916638;1916640;1916642;1916644;1916646;1916648;1916650;1916652;1916654;1916656;1916658;1916660;1916662;1916664;1916666;1916668;1916670;1916672;1916674;1916676;1916678;1916680;1916682;1916684;1916686;1916688;1916690;1916692;1916694;1916696;1916698;1916700;2115507;2122672;2140121;2147109;2168054;2206110;2206112;2206114;2206116;2206118;2206120;2206122;2206124;2206126;2206128;2206130;2206132;2206134;2206136;2206138;2206140;2206142;2206144;2206146;2206148;2206150;2206152;2206154;2206156;2206158;2206160;2206162;2206164;2206166;2206168;5016478 D6S1656;ECD01200;ECD01277;ECD01634;ECD01987;ECD02141;ECD02468;ECD02998;ECD03542;ECD04591;ECD05326;ECD06583;ECD07069;ECD07105;ECD07697;ECD07982;ECD08356;ECD09250;ECD09443;ECD10416;ECD12029;ECD13122;ECD13520;ECD13883;ECD14078;ECD14118;ECD15171;ECD16364;ECD16617;ECD18627;ECD20031;ECD20060;ECD20897;ECD20992;ECD21274;ECD22279;ECD23242;ECD24029;ECD24424;G59701;G63382;GDB:434012;REN28992;REN28993;REN28994;REN28995;REN28996;REN28997;REN28998;REN28999;REN29000;REN29001;REN29002;REN29003;REN29004;REN29005;REN29006;REN29007;REN29008;REN29009;REN29010;REN29011;REN29012;REN29013;REN29014;REN29015;REN29016;REN29017;REN29018;REN29019;REN29020;REN29021;REN29022;REN29023;REN29024;REN29025;REN29026;REN29027;REN29028;REN29029;REN29030;REN29031;REN29032;REN29033;REN29034;REN29035;REN29036;REN29037;REN29038;REN29039;REN29040;REN29041;REN29042;REN29043;REN29044;REN29045;REN29046;REN29047;REN29048;REN29049;REN29050;REN29051;REN29052;REN29053;REN29054;REN29055;REN29056;REN29057;REN29058;REN29059;REN29060;REN29061;REN29062;REN29063;REN29064;REN29065;REN29066;REN29067;REN29068;REN29069;REN29070;REN29071;REN29072;REN29073;REN29074;REN29075;REN29076;REN29077;REN29078;REN29079;REN29080;REN29081;REN29082;REN29083;REN29084;REN29085;REN29086;REN29087;REN29088;REN29089;REN29090;REN29091;REN29092;REN29093;REN29094;REN29095;REN29096;REN29097;REN29098;REN29099;REN29100;REN29101;REN29102;REN29103;REN29104;REN29105;REN29106;REN29107;REN29108;REN29109;REN29110;REN29111;REN29112;REN29113;REN29114;REN29115;REN29116;REN29117;REN29118;REN29119;REN29120;REN29121;REN29122;REN29123;REN29124;REN29125;REN29126;REN29127;REN29128;REN29129;REN29130;REN29131;REN29132;REN29133;REN29134;REN29135;REN29136;REN29137;REN29138;REN29139;REN29140;REN29141;REN29142;REN29143;REN29144;REN29145;REN29146;REN29147;REN29148;REN29149;REN29150;REN29151;REN29152;REN29153;REN29154;REN29155;REN29156;REN29157;REN29158;REN29159;REN29160;REN29161;REN29162;REN29163;RH46619;RH46667;RH46732;RH70145;RH93800;RH98486;SHGC-12805;SHGC-57709;STS-D12485;WI-17341;WI-18102;stSG626306;stSG626307;stSG626309;stSG626310;stSG626311;stSG626312;stSG626313;stSG626314;stSG626315;stSG626316;stSG626317;stSG626318;stSG626319;stSG626320;stSG626321;stSG626322;stSG626323;stSG626324;stSG626325;stSG626326;stSG626327;stSG626329;stSG626330;stSG626331;stSG626332;stSG626333;stSG626334;stSG626335;stSG626336;stSG626337 ARHR2;E-NPP 1;M6S1;NPP1;NPPS;PC-1;PCA1;PDNP1 COLED;Ly-41 antigen;OTTHUMP00000017212;alkaline phosphodiesterase 1;ectonucleotide pyrophosphatase/phosphodiesterase family member 1;membrane component chromosome 6 surface marker 1;membrane component, chromosome 6, surface marker 1;phosphodiesterase I/nucleotide pyrophosphatase 1;plasma-cell membrane glycoprotein 1;plasma-cell membrane glycoprotein PC-1 2289234;2289252;2289470;2314822;2314975;2314979;2314983;2314990;2314992;2314997;2315001 BW141_H;BW142_H;BW513_H;BW514_H;GLUCO126_H;GLUCO128_H;INSUL30_H;INSUL37_H;INSUL39_H;SLEP15_H;SLEP22_H APPROVED protein-coding ENSG00000197594 HGNC:3356 01415 125853;173335;208000;601665;602475;613312;615522 REVIEWED 7256667 ENPP7P8 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 8 11 11 11 68735822 68793492 + 71433189 71491360 + 71722143 71780314 + 100421860 ABBA01017547;ABBA01017548;ABBA01017549;AP002495;AP003498;NG_024528 pseudo HGNC:48691 INFERRED 734409 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008] 8 8 8 q24.1 116758340 116840155 - 120569317 120685644 - 119557077 119673404 - 1580863;6480464 10737800;11559573;12107410;12119361;12176993;12477932;12482591;12498389;12633853;12727817;15027116;15280042;15489334;15700135;15769751;15897878;15933052;15985467;16117781;16344560;16356477;16436050;16529861;16627485;16782887;16837466;17013094;1733949;17577119;17804602;17902023;18054784;18175805;18249559;18327261;18337445;18497954;19027716;19204739;19204929;19212832;19222837;19297419;19477432;19506801;19521548;19522250;19549252;19614625;20197381;20231358;20356387;20379614;20467438;20495010;20623382;20888793;21246658;21419756;21439952;21505238;21696367;21719699;21765444;21777571;21971049;21994952;21998595;22002750;22140473;22155714;22314276;22474126;22644624;22700442;22744859;22797925;22820036;22864860;22922883;22952646;22975311;23150666;23258351;23377000;23478591;23558934;23639740;23866971;24050723;24122794;24443508;24560789;24935929;24984830;7496154;7982964;8579579;8586446;8798697;8889548;8995394 5168 E5RIA2;E5RIB9;E5RJ49;E7EUF1;Q13822 AA256687;ABBA01037817;AC099818;AC107960;AI339551;AI375195;AK124910;AK130313;AK296027;AK315253;AL544867;AMYH02018677;BC034961;BM694754;BQ365938;BU731264;CA390514;CH471060;D45421;D45914;DA919550;DA922156;DB468753;DC338843;EU131011;JA738789;JA738791;JA738793;L35594;L46720;NG_029498;NM_001040092;NM_001130863;NM_006209;NR_045555;XM_006716584;XM_006716585;XM_006716586;XM_006716587 AAA64785;AAB00855;AAH34961;ABM82554;ABM85745;ABW38316;BAA08260;BAA08342;BAG58795;CCF77047;CCF77048;CCF77049;EAW91986;EAW91987;EAW91988;EAW91989;EAW91990;NP_001035181;NP_001124335;NP_006200;Q13822;XP_006716647;XP_006716648;XP_006716649;XP_006716650 Hs.190977 1338723;1678089;1739779;1749725;1750059;1755227;2122367;2131125;2148808;2183105;2187048;5093114;7184024 A009G17;D8S1677E;D8S269;G32527;RH41114;RH69056;SHGC-111401;SHGC-112215;SHGC-12938;SHGC-142128;STS-R51085;WI-21702 ATX;ATX-X;E-NPP 2;FLJ26803;NPP2;PD-IALPHA;PDNP2 LysoPLD;OTTHUMP00000228158;OTTHUMP00000228159;OTTHUMP00000228161;OTTHUMP00000228162;autotaxin;autotaxin-t;ectonucleotide pyrophosphatase/phosphodiesterase family member 2;extracellular lysophospholipase D;phosphodiesterase I/nucleotide pyrophosphatase 2;plasma lysophospholipase D APPROVED protein-coding ENSG00000136960 HGNC:3357 03037 601060 REVIEWED 7249281 ENPP7P7 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 7 11 11 67580013 67640842 - 67812542 67873371 - 100421859 ABBA01024022;ABBA01024023;ABBA01024024;ABBA01024025;AMYH02024999;AMYH02025000;AP003716;NG_024380 pseudo HGNC:48690 INFERRED 7254461 ENPP7P1 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 1 8 8 8011887 8074438 + 8154365 8216916 + 100421823 AC068020;AMYH02017388;NG_026083 pseudo HGNC:48699 INFERRED 736594 ENSA endosulfine alpha The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 123710348 123717847 - 150594599 150602098 - 150622123 150629622 - 1580863;2303423;6480464 16344894 10480622;11042152;11771735;12477932;12937617;14702039;14728986;14728987;15030171;15489334;16169070;16341674;17081983;17353931;17893145;18624398;18973346;20471941;21044950;21139048;21163940;21890473;23000965;23585552;24211627;24391510;24816145;8889548;9653196 2029 A6NMQ3;O43768;Q5T5H1 ABBA01049351;AF067170;AF157509;AF157510;AJ010966;AK001981;AK057673;AK290064;AL356356;AL711949;AMYH02001855;AW136940;AW409955;AY326399;AY326400;AY326401;AY326402;AY326403;BC000436;BC004461;BC068544;BC069208;BE799496;BM771663;BM984677;BM993811;BQ005654;BQ883543;BU075511;BU858280;CB243574;CH471121;CR457130;CR536578;CR749580;NG_029499;NM_004436;NM_207042;NM_207043;NM_207044;NM_207045;NM_207046;NM_207047;NM_207168;T78564;X99906 AAD32454;AAF80340;AAF80341;AAH00436;AAH04461;AAH68544;AAH69208;AAQ73827;AAQ73828;AAQ73829;AAQ73830;AAQ73831;AAQ73832;ACE86872;ACE87560;BAF82753;BAG50998;CAA68180;CAB65125;CAG33411;CAG38815;CAH18372;EAW53528;EAW53529;EAW53530;EAW53531;EAW53532;EAW53533;NP_004427;NP_996925;NP_996926;NP_996927;NP_996928;NP_996929;NP_996930;NP_997051;O43768 Hs.632456 1660305;1675929;1680745;1690039;1755025;1781648;1783046;2110933;2182093;7187063 D14S1345;D1S330E;RH44475;RH79733;RH98502;SHGC-141968;SHGC-145179;SHGC-154616;STS-N93765 ARPP-19e;MGC4319;MGC78563;MGC8394 OTTHUMP00000032931;OTTHUMP00000032932;OTTHUMP00000034001;OTTHUMP00000034002;OTTHUMP00000034003;OTTHUMP00000034004;OTTHUMP00000034005;OTTHUMP00000034006;OTTHUMP00000218268;OTTHUMP00000218269;OTTHUMP00000218270;OTTHUMP00000218271;OTTHUMP00000218272;alpha-endosulfine 2314803 GLUCO119_H APPROVED protein-coding ENSG00000143420 HGNC:3360 11927 603061 REVIEWED 7252464 ENPP7P4 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 4 3 3 3 123986694 124047988 + 125567066 125628257 + 125848223 125909414 + 100421816 ABBA01016402;ABBA01016403;ABBA01016404;ABBA01016405;AC092902;AC092903;AMYH02007580;NG_025738 pseudo HGNC:48687 INFERRED 1349921 ENSAP1 endosulfine alpha pseudogene 1 20 20 20 p12.1 15675140 15675665 - 15600039 15600564 - 15619394 15619919 - 170511 ABBA01054002;AL050324;AMYH02036747;NG_001035 dJ822J19.1 ENSAP APPROVED pseudo HGNC:16588 INFERRED 1602180 ENTHD1 ENTH domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH potassium dichromate (ortholog) 22 22 22 q13.1 23941109 24091859 - 40139049 40289794 - 39743044 39893799 - 6480464;8554872 12477932;14702039;15461802;20237496 150350 Q8IYW4 ABBA01055585;AK058150;AK093154;AL022319;AL022353;AMYH02038389;AMYH02038390;AMYH02038391;BC033895;CH471095;CR456452;KF457454;KF457457;KF457462;KF511465;NM_152512;XM_006724149;XM_006724150;XM_006724151;XM_006724152;XM_006724153;Z82206 AAH33895;ADZ15746;BAB71688;BAC04075;CAG30338;EAW60352;EAW60353;EAW60354;NP_689725;Q8IYW4;XP_006724212;XP_006724213;XP_006724214;XP_006724215;XP_006724216 Hs.474869 1649101;1678905;1745461;1793108;2118972 D22S575;G13234;GDB:607737;PMC196577P2;RH39082 CACNA1I;FLJ25421;dJ370M22.3 ENTH domain-containing protein 1;OTTHUMP00000199129;dJ370M22.3 (EPSIN 2B);epsin-2B protein-coding ENSG00000176177 HGNC:26352 08063 PROVISIONAL 7251820 ENPP7P9 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 9 4 4 4 3867604 3868231 - 3968760 3969387 - 3967033 3967660 - 100421803 ABBA01008232;AC226119;AMYH02008639;NG_025078 pseudo HGNC:48692 INFERRED 1348920 ENSAP2 endosulfine alpha pseudogene 2 14 14 14 q31.1 63201541 63202232 - 83158851 83159542 - 82692507 82693198 - 319114 ABBA01030595;AL163171;AMYH02029638;NG_002495 1783046 SHGC-145179 pseudo HGNC:20011 INFERRED 7241751 ENTPD1-AS1 ENTPD1 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (inferred) 10 10 10 q24.1 91522175 91591172 - 97512963 97849992 - 95753206 96090235 - 8554872 12477932;14702039;16344560 728558 ABBA01021832;ABBA01021833;ABBA01021834;AK091396;AK096469;AL356155;AL365273;AL513355;AMYH02023582;AMYH02023583;AMYH02023584;BC028619;BU852745;DA419635;HG503172;HG503173;KF455283;NR_038444 Hs.538374 1748575;1778534;1778754;5015435 G33523;RH66368;SHGC-110239;T16093 RP11-429G19.2 ncrna ENSG00000226688 HGNC:45203 VALIDATED 3516430 ENSAP3 endosulfine alpha pseudogene 3 2 2 2 q35 209330561 209330992 + 215562321 215562752 + 214697597 214698028 + 20379614 100128203 ABBA01062782;AC016708;AC068051;AMYH02005735;NG_023446 1712651;1755025;1850490 D2S2779;RH121990;SHGC-141968 pseudo HGNC:37946 INFERRED 5144567 ENTPD3-AS1 ENTPD3 antisense RNA 1 3 3 3 p21.33 40376024 40437499 - 40432442 40494799 - 40390951 40453308 - 12477932 285266 ABBA01024791;ABBA01024792;ABBA01024793;AC104186;AMYH02006594;AMYH02006595;AMYH02006596;BC012301;BC035465;BC047546;BG527749;HG495599;HG495600;NR_040100 Hs.619663 1779698;1854564;5117897 G30552;GDB:631813;SHGC-153676 FLJ36665;RP11-391M1.3 APPROVED ncrna ENSG00000223797 HGNC:26710 VALIDATED 1343601 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009] 14 14 14 q24 54470115 54522978 - 74426169 74486026 - 73959522 74019326 - 1580863;6480464;6907045;8554872 10400613;10708485;11041857;12477932;12489110;15698960;16335952;16344560;16465363;18006831;18029348;19117992;20601676;21074248;22169232;22992974;23921441;24250222;9271669;9676430 957 G3V3Y0;G3V450;G3V4I0;H0YJH1;O75356 ABBA01030736;ABBA01030737;ABBA01030738;ABBA01030739;AC005480;AC005484;AF039918;AF136572;AMYH02029503;AMYH02029504;AMYH02029505;AY430094;BC020966;BC130485;BC130487;CH471061;DB017355;NM_001249;XM_005268221;XM_005268222;XM_005268224;XM_006720324;XM_006720325;XM_006720326 AAC39885;AAI30486;AAI30488;AAK82950;AAR06666;ADR82998;ADR83367;EAW81149;EAW81150;EAW81151;EAW81152;EAW81153;EAW81154;EAW81155;EAW81156;NP_001240;O75356;XP_005268278;XP_005268279;XP_005268281;XP_006720387;XP_006720388;XP_006720389 Hs.720540 1647354;1653460;1740689;1771051;1854136;2182893;2217312 D14S1269;ENTPD5_3228;G35456;G38091;RH66500;SHGC-30190;WI-17770 CD39L4;MGC163357;MGC163359;NTPDase-5;PCPH CD39 antigen-like 4;CD39-like 4;ER-UDPase;GDPase ENTPD5;NTPDase 5;OTTHUMP00000245635;OTTHUMP00000245637;Pcph proto-oncogene protein;UDPase ENTPD5;guanosine-diphosphatase ENTPD5;nucleoside diphosphatase;proto-oncogene CPH;uridine-diphosphatase ENTPD5 APPROVED protein-coding HGNC:3367 16015 603162 REVIEWED 733255 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 9 9 9 q34 110455967 110461919 - 139942550 139948503 - 137048098 137054051 - 1580863;6480464;6907045;8554872 10510450;11591653;11827541;12477932;12888562;14522593;15489334;15496502;15651265;15799977;16101300;17489562;18656957;21988832;9271669 954 Q9Y5L3 ABBA01022738;ABBA01022739;AF144748;AL807752;AMYH02021921;BC011003;BC035738;BQ883059;CB045339;CH471090;EF495152;NG_029427;NM_001246;NM_203468;U91510 AAB81013;AAD40239;AAH35738;ABM83336;ABM86549;ABP58644;EAW88336;EAW88337;NP_001237;NP_982293;Q9Y5L3 Hs.123036 CD39L1;NTPDase-2 CD39 antigen-like 1;CD39-like-1;NTPDase 2;OTTHUMP00000022628;OTTHUMP00000022629;ecto-ATP diphosphohydrolase 2;ecto-ATPDase 2;ecto-ATPase 2 APPROVED protein-coding ENSG00000054179 HGNC:3364 03600 602012 REVIEWED 1346927 ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014] 3 3 3 p21.3 40371496 40412942 + 40428647 40470110 + 40387156 40428619 + 1580863;6480464;6907045 10231536;11300774;12477932;15966724;17727821;19120451;19743837;20190036;24085034;9271669;9675246;9676430 956 C9J0J3;O75355 ABBA01024791;ABBA01024792;ABBA01024793;AC104186;AF034840;AF039917;AK313322;AMYH02006594;AMYH02006595;BC029869;BX952692;CH471055;DA209533;NM_001248;NM_001291960;NM_001291961;XM_005265605;XM_005265606;XM_005265607;XM_005265608;XM_006713422;XR_245167;XR_427297 AAC09236;AAC39884;AAH29869;BAG36127;EAW64600;EAW64601;NP_001239;NP_001278889;NP_001278890;O75355;XP_005265662;XP_005265663;XP_005265664;XP_005265665;XP_006713485 Hs.441145 1854564;2217310 ENTPD3_90.2;G30552 CD39L3;FLJ93839;HB6;NTPDase-3 CD39 antigen-like 3;CD39-like 3;NTPDase 3;OTTHUMP00000162079;OTTHUMP00000209227;OTTHUMP00000209228;ecto-ATP diphosphohydrolase 3;ecto-ATPDase 3;ecto-ATPase 3;ecto-apyrase 3 APPROVED protein-coding ENSG00000168032 HGNC:3365 16014 603161 REVIEWED 1601823 ENTHD2 ENTH domain containing 2 FOUND IN cytoplasmic vesicle (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; menadione 17 17 17 q25.3 75832623 75843435 - 79202072 79212891 - 81228272 81239091 - 6480464 12477932;14702039;16344560;21832049;9710619 146705 I3L3N1;I3L3R3;I3L4J0;I3L4S7;Q96N21 ABBA01032133;AC027601;AK056090;AK127221;AK128728;AMYH02034122;BC037231;BC042155;BC064483;CH471099;DB122720;NM_144679;XM_005257066;XM_005257067;XM_006721709;XM_006721710;XM_006721711;XM_006721712 AAH64483;BAB71091;BAC86888;BAC87593;EAW89634;EAW89635;EAW89636;EAW89637;EAW89638;NP_653280;Q96N21;XP_005257123;XP_005257124;XP_006721772;XP_006721773;XP_006721774;XP_006721775 Hs.631761 C17orf56;DKFZp451M1616;FLJ31528 AP-4 complex accessory subunit tepsin;ENTH domain-containing protein 2;epsin for AP-4;hypothetical protein LOC146705;tetra-epsin;uncharacterized protein C17orf56 APPROVED protein-coding ENSG00000167302 HGNC:26458 08103 VALIDATED 1345865 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 (putative) ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which is characteristic of NTPases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 25250075 25281095 + 25176327 25207365 + 25195691 25226729 + 1580863;6480464;6907045 11041856;11076863;11230166;11780052;12477932;14529283;14702039;15489334;15489336;16303743;16381901;16713569;19913121;20628086;21900206;21906983;22036096;24250222;9271669;9676430 955 B4DHS2;H0Y3D0;H0Y473;H0Y5X0;H0Y6Q1;O75354;Q5QPI7;Q5QPI9;Q5QPJ3;Q5QPJ4;Q5QPJ6;Q5QPJ7 ABBA01048732;AF039916;AF058296;AK074691;AK094030;AK095708;AK124625;AK128412;AK293256;AK295242;AK297954;AK300028;AK300514;AK302395;AK303786;AK308626;AL035252;AL834158;AMYH02036845;AY327581;AY459290;BC025980;CH471133;CR936750;CR936765;NM_001114089;NM_001247;XM_005260878;XM_005260881;XM_005260882;XM_005260883;XM_005260884;XM_005260885;XM_005260886;XM_005260887;XM_006723665;XM_006723666 AAC14279;AAC39883;AAH25980;AAP92131;AAR23235;ABM84322;ABW03557;BAG56788;BAG58234;BAG60268;BAG61839;BAG62226;BAG63709;BAG64743;CAD38864;CAL38442;EAX10095;EAX10096;EAX10097;EAX10098;EAX10099;NP_001107561;NP_001238;O75354;XP_005260935;XP_005260938;XP_005260939;XP_005260940;XP_005260941;XP_005260942;XP_005260943;XP_005260944;XP_006723728;XP_006723729 Hs.500375 1681843;1725695;1795776;2142461;2176581 ENTPD6_1153;G62111;RH44966;RH45536;STS-N51689 CD39L2;DKFZp781G2277;DKFZp781K21102;FLJ36711;IL-6SAG;IL6ST2;NTPDase-6;dJ738P15.3 CD39 antigen-like 2;CD39-like 2;HCV-E2 binding protein 1;NTPDase 6;OTTHUMP00000030474;OTTHUMP00000030475;OTTHUMP00000030478;OTTHUMP00000030479;OTTHUMP00000030483;OTTHUMP00000030484;OTTHUMP00000030485;OTTHUMP00000030486;OTTHUMP00000030487;ectonucleoside triphosphate diphosphohydrolase 6;ectonucleoside triphosphate diphosphohydrolase 6 (putative function);interleukin 6 signal transducer-2 APPROVED protein-coding ENSG00000197586 HGNC:3368 16013 603160 REVIEWED 1353973 ENUR1 enuresis, nocturnal 1 ASSOCIATED WITH Nocturnal Enuresis (inferred) 7240710 7670476 2031 1337171;1341056 D13S263;D13S291 HGNC:3369 600631 1351202 ENUR2 enuresis, nocturnal 2 ASSOCIATED WITH Enuresis, Nocturnal, 2 (inferred) 7240710 2032 1335874;1340029 D12S43;D12S80 HGNC:3370 600808 1319889 ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and these isoforms may differ in divalent cation dependence and substrate specificity. [provided by RefSeq, Sep 2011] 8 8 8 p21.3 22252129 22277803 - 23284687 23315244 - 23429152 23457731 - 1580863;6480464;6907045 10393803;10858452;12477932;15146197;15200686;15592455;16344560;18029348;20201926;20537721;21139048;21988832;24672025;9205841;9556635 9583 E5RIB2;H0YAN2;H0YBY8;Q8NE73;Q9Y227 AB002390;ABBA01005542;AC104561;AF016032;AJ131358;AJ246165;AK300464;AMYH02017612;BC034477;CH471080;CN313713;CN313716;DB091432;DB153397;DC341200;NG_030021;NM_001128930;NM_004901 AAC17217;AAH34477;ABM81750;ABM84904;BAA21575;BAG62183;CAB40415;CAB45655;EAW63621;EAW63622;EAW63623;NP_001122402;NP_004892;Q9Y227 Hs.444389 1669351;2162190;5015619;5022200;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D8S2279;L18426;SHGC-32556;STS-H92890 KIAA0392;LALP70;LAP70;LYSAL1;NTPDase-4 NTPDase 4;OTTHUMP00000123535;OTTHUMP00000224884;OTTHUMP00000224951;UDPase;apyrase, lysosomal;golgi luminal UDPase;guanosine-diphosphatase like protein;lysosomal apyrase-like 1;lysosomal apyrase-like protein of 70 kDa;uridine-diphosphatase APPROVED protein-coding ENSG00000197217 HGNC:14573 09618 607577 REVIEWED 1602162 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ENCODES a protein that exhibits ATP binding (inferred); hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); nucleoside diphosphate biosynthetic process (inferred); nucleoside monophosphate biosynthetic process (inferred); PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH calcitriol; sarin; testosterone 9 9 9 q34.3 110854994 110862292 - 140328816 140335901 - 137434364 137441449 - 6480464;6907045;8554872 12477932;12975309;16752921;17095758;17727821 377841 H7C5J8;Q5MY95 ABBA01022771;AMYH02021936;AMYH02021937;AY359088;AY430414;AY903953;AY903954;BC050293;BC141810;BX322799;CH471090;NM_001033113;NM_198585 AAI40369;AAI41811;AAI46510;AAQ89446;AAR04374;AAW83515;AAW83516;EAW88389;NP_001028285;NP_940987;Q5MY95 Hs.512562 E-NTPDase;GLSR2492;NTPDase-8;UNQ2492 E-NTPDase 8;NTPDase 8;NTPDase8;OTTHUMP00000162649;OTTHUMP00000215696;ecto-ATP-diphosphohydrolase;liver ecto-ATP-diphosphohydrolase;nucleoside triphosphate diphosphohydrolase-8 protein-coding ENSG00000188833 HGNC:24860 16864 VALIDATED 1602633 EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase ENCODES a protein that exhibits protein N-acetylglucosaminyltransferase activity (ortholog); INVOLVED IN protein O-linked glycosylation (ortholog); ASSOCIATED WITH ADAMS-OLIVER SYNDROME 4 (inferred); Autosomal recessive inheritance (inferred); Cutis marmorata (inferred); FOUND IN endoplasmic reticulum (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 3 3 3 p14.1 68952460 68990886 - 69024363 69063112 - 68975212 69013961 - 6480464;8699517;7240710;8554872 12477932;14702039;16344560;17207965;21832049;22310717;23522784;23671640;23860037;24654937 285203 B4E243;C9J4G5;C9JQM7;F5H225;Q5NDL2 AA709285;ABBA01030897;AC109587;AJ868234;AK023140;AK091089;AK123213;AK126187;AK290356;AK294101;AK304102;AL833467;AMYH02007012;AMYH02007013;BC028935;BC060887;BX640821;BX648818;DA856791;KC347596;NM_001278689;NM_173654;NR_103826;XM_005264743;XM_005264744;XM_006713111 AAH28935;AAH60887;ADQ33029;AGC92970;BAC86479;BAF83045;BAG52283;BAG57436;BAG65005;CAE45897;CAI30569;NP_001265618;NP_775925;Q5NDL2;XP_005264800;XP_005264801;XP_006713174 Hs.518059 1643891 STS-D25952 AER61;AOS4;C3orf64;EOGT1;FLJ13078;FLJ33770;FLJ41219;MGC34132 AER61 glycosyltransferase;EGF domain-specific O-linked N-acetylglucosamine transferase;EGF-O-GlcNAc transferase;OTTHUMP00000209643;OTTHUMP00000209644;extracellular O-linked N-acetylglucosamine transferase;uncharacterized glycosyltransferase AER61 APPROVED protein-coding ENSG00000163378 HGNC:28526 12435 614789;615297 VALIDATED 1321659 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasmic vesicle (inferred); integral component of membrane (inferred); INTERACTS WITH carbamazepine; copper(2+) sulfate; cyclosporin A 10 10 10 95156667 95208386 + 101419263 101471002 + 99659506 99711245 + 1580863;6480464;8554872 11278936;12477932;14702039;15164054;15489334;20534741;22412388 57089 Q9NQZ7;S4R3B9 ABBA01063244;ABBA01063245;AF269255;AK055540;AK056392;AK123516;AK309735;AK314542;AL133353;AL713774;AMYH02023641;AMYH02023642;AMYH02023643;AW629210;AX365567;AX365569;BC018023;BC119008;BC122857;BX648264;CH471066;CS300521;NM_020354 AAF90135;AAI19009;AAI22858;BAG37130;BAG51533;CAD23816;CAD23817;CAK32185;EAW49860;EAW49861;EAW49862;NP_065087;Q9NQZ7 Hs.28326;Hs.744948 1660215;1661300;1671893;1671895;1689676;1695844;1797810;2142779;2167906;2171485;5015961 A008I22;D15S1477;LALP1_2487;RH44559;RH65628;RH79626;SHGC-34176;SHGC-36179;SHGC-78783;STS-N35618;STS-R62362 DKFZp667O124;FLJ30978;FLJ31830;FLJ41522;FLJ95364;LALP1;MGC141913;RP11-483F11.1 NTPDase 7;OTTHUMP00000020259;lysosomal apyrase-like protein 1 protein-coding HGNC:19745 10939 VALIDATED 1601985 ENY2 enhancer of yellow 2 homolog (Drosophila) ENCODES a protein that exhibits ligand-dependent nuclear receptor transcription coactivator activity; transcription coactivator activity; INVOLVED IN histone deubiquitination; positive regulation of transcription, DNA-templated; FOUND IN SAGA complex; INTERACTS WITH 17alpha-ethynylestradiol; 2-methylcholine; all-trans-retinoic acid 8 8 8 q23.1 106534242 106545876 + 110346552 110358189 + 109334323 109345960 + 6480464 11438676;12477932;14702039;16169070;16344560;18206972;19615732;21139048;21746879;21832049;21890473;21906983;22939629;23000965;24816145;8889548 56943 E5RHT9;E5RHX8;E5RI00;E5RJ84;J3KNT2;Q9NPA8 ABBA01037712;AC021237;AF173296;AF201940;AK000487;AK095651;AK290752;AK316560;AMYH02018601;BC007870;BC051878;BU737295;BX537648;CH471060;CR457183;CS300591;DA548665;DA762166;DB168034;NM_001193557;NM_020189;NR_036471;NR_036472 AAF86876;AAF89829;AAH07870;BAF83441;BAG38149;CAG33464;CAK32255;EAW91927;EAW91928;EAW91929;EAW91930;NP_001180486;NP_064574;Q9NPA8 Hs.492555 1675463;1698630;1856237;2122942;2172746;2179787;2184150;5015861;5015961;5037552;7185938 D10S16;D15S1477;D8S2279;RH102871;RH16261;RH70342;RH98525;SHGC-34886;STS-H47347;STS-N30904 DC6;FLJ20480;e(y)2 OTTHUMP00000227945;OTTHUMP00000227946;OTTHUMP00000227949;OTTHUMP00000227950;enhancer of yellow 2 transcription factor homolog;transcription and mRNA export factor ENY2 protein-coding ENSG00000120533 HGNC:24449 13121 VALIDATED 733329 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ENCODES a protein that exhibits ATP binding (inferred); nucleoside-diphosphatase activity (inferred); nucleoside-triphosphatase activity (inferred); INVOLVED IN ATP catabolic process (inferred); blood coagulation (inferred); cell death (inferred); PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; ASSOCIATED WITH Hemorrhage (ortholog); FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-azacytidine 10 10 10 q24 91256620 91378232 + 97471536 97637023 + 95711779 95877266 + 728666;735004;1580863;1300048;6480464;6907045;8554872 10470077;9221928 10405171;10471369;10636909;10737800;10997340;11004484;11897808;12067895;12234494;12477932;12482826;12623446;12832497;14702039;15146241;15496502;15590415;15772061;15890655;16011960;16028070;16385451;16478441;16920697;17374358;17449799;17560607;17727821;18404504;18485080;18600538;18713747;18812468;18979366;19095759;19450601;19877008;19914228;19946888;20190036;20379614;20487644;20498355;20638239;20936356;20977632;21492831;21638125;21663645;21670316;21677139;21763644;21939667;22184407;22349724;22489829;22613024;22622462;22637533;22684996;22792409;22802412;22846899;23359087;23606272;23737488;23901069;23941770;24482476;24752698;24970562;7930580;8529670;8626624;8955160;8996251;9226376;9846014 953 P49961 ABBA01021833;ABBA01021834;AJ133133;AJ133134;AK098240;AK098278;AK298648;AK301459;AK304018;AK304836;AK316009;AL356632;AL365273;AL547722;AL833543;AMYH02023582;AMYH02023583;BC047664;BF839210;BX537522;CD652289;CH471066;DC423382;NM_001098175;NM_001164178;NM_001164179;NM_001164181;NM_001164182;NM_001164183;NM_001776;S73813;U87967;XM_006718076;XM_006718077 AAB32152;AAB47572;AAH47664;BAG62981;BAG64933;BAG65580;BAH12835;BAH14380;CAB41886;CAB41887;EAW49987;EAW49988;EAW49989;EAW49990;EAW49991;NP_001091645;NP_001157650;NP_001157651;NP_001157653;NP_001157654;NP_001157655;NP_001767;P49961;XP_006718139;XP_006718140 Hs.576612 1698910;1698960;1699144;1733516;1775127;2118693;2144669;2151698;2152289;2171834;2174572;2186132;5109549 A004O25;D10S1191;D21S1698;G29221;L18004;RH103024;RH103049;RH103148;RH66515;RH67840;STS-AA022645;STS-S73813;WI-15712 CD39;DKFZp686D194;DKFZp686I093;FLJ40921;FLJ40959;SPG64 ATPDase;CD39 antigen;NTPDase 1;NTPDase-1;OTTHUMP00000020161;OTTHUMP00000020163;ecto-ATP diphosphohydrolase 1;ecto-ATPDase 1;ecto-ATPase 1;ecto-apyrase;lymphoid cell activation antigen protein-coding ENSG00000138185 HGNC:3363 09047 601752;615683 VALIDATED 8655797 EP300-AS1 EP300 antisense RNA 1 22 22 q13.2 41581218 41593505 - 41185214 41197501 - 101927279 AL035658;AMYH02038429;AMYH02038430;AW511192;BC040700;HY041000;NR_110514;XR_244437;XR_254096;XR_430450;XR_433712 Hs.517517;Hs.623922 ncrna HGNC:50504 VALIDATED 1312347 EP400 E1A binding protein p400 ENCODES a protein that exhibits ATP binding (inferred); chromatin binding (inferred); DNA binding (inferred); INVOLVED IN histone H2A acetylation; histone H4 acetylation; PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN NuA4 histone acetyltransferase complex; Swr1 complex; nuclear speck (ortholog); INTERACTS WITH 5-fluorouracil; cobalt dichloride; copper(2+) sulfate 12 12 12 q24.33 132044667 132183581 + 132434465 132565011 + 131949920 132080466 + 1580863;6480464;9495926;8554872 21502417 10819331;11347906;11509179;12421765;12477932;12693553;12963728;14702039;14966270;15196461;15302935;15489334;15655109;15741165;16344560;16510874;16510875;16601686;17704809;17721438;18029348;18087039;18413597;18985155;19169279;19454010;19553677;20070254;20332121;20351180;20467438;20548951;20876283;20946988;21139048;21150319;21182205;21320693;21890473;21906983;21963094;22467210;22939629;23000965;23064015;23146670;23266955;23602568;23667531;23982490;24163370;24332572;24457600;9194565;9225980 57634 A7E2D7;Q96L91 AB040931;AB058721;ABBA01032798;AC131009;AC137590;AC137632;AK025040;AK074395;AK096311;AK097299;AK124012;AK127058;AL832718;AMYH02027574;AMYH02027575;AMYH02027576;AMYH02027577;AMYH02027578;AW376113;AY044869;BC016068;BC037208;BC064554;BC150291;BX369075;CH471054;DA450209;KF455749;NM_015409;U80743 AAB91441;AAH37208;AAH64554;AAI50292;AAK97789;ADZ16043;BAA96022;BAB47447;BAC04759;EAW98534;EAW98535;EAW98536;NP_056224;Q96L91 Hs.723478 1654503;1655198;1673488;2122375;2141436;2141438;2151353;2157908;5021908;5037746 A002A44;A008Y05;D12S2111;D1S3696;G19868;RH11166;RH44488;RH77857;SHGC-75101;ha2733 CAGH32;DKFZP434I225;FLJ42018;FLJ45115;P400;TNRC12 CAG repeat protein 32;E1A-binding protein p400;OTTHUMP00000237735;domino;domino homolog;hDomino;p400 SWI2/SNF2-related protein;p400 kDa SWI2/SNF2-related protein;trinucleotide repeat containing 12;trinucleotide repeat-containing gene 12 protein protein-coding ENSG00000183495 HGNC:11958 09378 606265 VALIDATED 1353316 EOMES eomesodermin This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 3 3 3 p24.1 27694279 27700196 - 27757440 27764206 - 27715949 27722715 - 1580863;6480464;6484113;8554872 10407135;12477932;15489334;16273099;17353897;17566017;18523274;18794345;18940588;18973570;19036723;19269192;20056084;20498708;21076068;21245162;21833088;21900206;22190364;22490682;23056278;23313847;23455505;23609452;23965471;24149102;24390342;24495857;8889548;9888994 8320 B7Z4K0;O95936 AB031038;ABBA01024986;AC098614;AJ010280;AK297389;AK297461;AK299499;AK299695;AK316166;AMYH02006450;AMYH02006451;BC025363;BC037568;BC131712;BM720063;BX096900;CH471055;GN344053;HI574298;NM_001278182;NM_001278183;NM_005442;XM_005265510 AAH25363;BAA83417;BAH12568;BAH12586;BAH13052;BAH13105;BAH14537;CAB37939;CAY55962;CBX47638;EAW64387;EAW64388;NP_001265111;NP_001265112;NP_005433;O95936;XP_005265567 Hs.591663;Hs.734211 2107055;2114386;2188507 EOMES__7594;G66449;SHGC-76786 TBR-2;TBR2 OTTHUMP00000161129;OTTHUMP00000208392;T-box brain protein 2;T-box brain2;T-brain-2;eomesodermin homolog;t box, brain, 2 APPROVED protein-coding ENSG00000163508 HGNC:3372 07054 604615 REVIEWED 1604699 EP400NL EP400 N-terminal like INTERACTS WITH all-trans-retinoic acid; calcitriol 12 12 12 q24.33 132187591 132230319 + 132568828 132610885 + 132084283 132126340 + 6480464 12477932;14702039;21832049 347918 F2Z2G7;F5GWI7;F8WA08;H9KV84;Q6ZTU2 ABBA01032794;ABBA01032795;ABBA01032796;ABBA01032797;ABBA01032798;AC137590;AC138466;AK090610;AK091234;AK097720;AK126212;AK128208;AK289710;AL117637;AMYH02027579;BC015414;BC066974;NR_003290 BAC03617;BAC05150;BAC86487;BAF82399;BAG52194;CAB56026;Q6ZTU2 Hs.122115 1852611;2131201;2166684;2183820;5015177;5037552;5124684 D8S2279;RH68043;RH69942;RH98890;SHGC-133083;SHGC-64120;STS-H94865 DKFZp434I225;FLJ33915;FLJ44224;FLJ46340;MGC87589 pseudo ENSG00000185684 HGNC:26602 13413 VALIDATED 68594 EPAS1 endothelial PAS domain protein 1 This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009] 2 2 2 p21-p16 46363267 46452583 + 46524541 46613842 + 46297402 46386703 + 632961;734934;1580977;1580974;1580863;6480464;6483352;6483503;6484113;6907045;7240710;8554872;8699517 11159352;14608355;15247145;20396958;22169972;9000051 10202154;10353251;10823831;10878807;11018023;11292862;11313887;11331613;11573933;11782478;11823643;12123724;12209691;12464608;12477932;12588875;12604794;12697324;12823854;14512791;14556007;14645546;14668441;14691554;14702039;14744852;14966910;14985465;15039136;15156561;15192019;15217953;15231748;15240563;15247232;15261140;15319539;15474027;15489334;15598469;15611064;15652356;15653678;15964822;16098466;16208515;16263938;16278385;16284786;16407130;16554418;16760477;16826581;16885164;16920734;17024177;17097563;17140440;17220275;17285230;17324924;17339318;17417656;17418410;17437013;17452775;17477366;17495954;17526729;17555795;17562539;17570486;17684156;17718430;17852557;17907154;17967880;17986458;18000879;18024825;18055454;18077449;18319549;18372249;18378852;18420194;18423372;18442887;18443354;18508787;18625704;18650473;18711622;18728663;18787502;18854154;18945681;18957292;19010893;19021062;19030186;19077391;19080330;19129502;19147576;19208626;19238077;19252526;19287200;19322201;19322701;19386601;19401348;19436307;19460752;19477429;19483472;19498162;19541651;19590888;19660915;19706526;19805377;19837976;19903792;19913121;19914104;19940151;19955413;20015878;20026589;20028863;20032376;20039838;20158574;20204822;20211142;20224786;20304964;20354189;20375133;20395290;20416395;20496369;20513003;20534544;20551700;20559021;20559438;20595611;20628086;20632821;20807755;20824203;20856199;20936779;20939709;20961960;20964835;20965423;20978319;21030426;21042786;21044950;21057546;21073737;21081659;21109953;21127501;21131975;21193393;21217668;21257819;21263150;21327823;21362301;21382346;21389259;21483406;21512126;21512133;21571835;21610325;21637285;21658608;21685897;21695080;21718164;21840298;21841824;21869830;21888897;21906983;21925595;21927022;21946204;21963094;21983741;21984395;21985026;21988832;22068265;22090111;22093255;22095691;22103974;22113997;22247019;22277691;22367913;22402494;22452996;22537539;22595196;22673574;22684009;22779921;22807441;22869144;22894905;22931260;22966206;23042097;23063455;23090011;23103253;23174107;23194660;23212661;23222716;23227185;23275444;23303559;23333640;23334958;23335846;23361906;23375698;23378636;23382691;23401859;23402259;23418310;23447580;23455322;23473032;23478175;23479510;23492195;23533246;23563312;23588703;23661758;23716564;23750001;23785149;23840432;23852087;23873332;23881929;23886153;23897427;23900840;23911400;23940778;23946285;23958427;24037341;24041620;24070809;24176785;24196071;24288553;24324596;24356968;24363272;24368849;24371328;24394419;24394537;24423936;24464808;24503013;24661907;24705306;24806027;24938788;24998849;25108527;8619474;8889548;9079689;9110174;9113979;9576906;9704006 2034 B3KW07;C9J9N2;Q99814 ABBA01075136;ABBA01075137;AC016696;AC016912;AF052094;AK123845;AMYH02003733;BC015869;BC051338;BM671511;CD109908;CH471053;NG_016000;NM_001430;U51626;U81984 AAB41495;AAC51212;AAH51338;AAX93237;AAY14704;BAG53969;EAX00255;NP_001421;Q99814 Hs.468410 1339229;1674161;1715327;1718521;1734966;2111047;2122897;2126363;2150057;2169700;2169702;2181793;5017457 A006E13;D2S1715E;D2S246E;D2S288;Epas1;G20740;RH120495;RH122462;RH16555;RH71235;SGC34838;SHGC-33342;STS-M78744 ECYT4;EPAS-1;HIF-2-alpha;HIF2-alpha;HIF2A;HLF;MOP2;PASD2;bHLHe73 HIF-1-alpha-like factor;HIF-1alpha-like factor;OTTHUMP00000159033;PAS domain-containing protein 2;basic-helix-loop-helix-PAS protein MOP2;class E basic helix-loop-helix protein 73;endothelial PAS domain-containing protein 1;hypoxia-inducible factor 2 alpha;hypoxia-inducible factor 2-alpha;member of PAS protein 2 APPROVED protein-coding ENSG00000116016 HGNC:3374 06787 603349;611783 REVIEWED 732325 EPB41L3 erythrocyte membrane protein band 4.1-like 3 ENCODES a protein that exhibits actin binding (inferred); structural constituent of cytoskeleton (inferred); structural molecule activity (inferred); INVOLVED IN myelin maintenance (ortholog); neuron projection morphogenesis (ortholog); paranodal junction assembly (ortholog); ASSOCIATED WITH Meningioma (ortholog); FOUND IN cell-cell junction; plasma membrane; axolemma (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',5-triiodo-L-thyronine; 5-aza-2'-deoxycytidine 18 18 18 p11.32 5277004 5429470 - 5392380 5630662 - 5392381 5630663 - 1300356;1580863;6480464 10888600 10231032;11996670;12115567;12234973;12421765;12477932;12478663;12542678;14702039;15116094;15138999;15324660;15334060;15345747;15489334;15517334;15688033;15731777;15837747;16142420;16152585;16169070;16189514;16205641;16213361;16242908;16344560;16368544;16420693;16713569;16964243;17260099;17353931;17474147;17620599;17640904;18065756;18554153;19060904;19115211;19165527;19299464;19322201;19796685;20379614;20467438;20651987;20936779;21081044;21131357;21139048;21163940;21526423;21628394;21796628;21890473;22268729;22586326;22782504;23000965;23084401;23184937;23444366;23455922;24255178;24337577;7566098;8401585;9828140;9892180 23136 A8K968;J3KRD1;J3KS70;J3KT37;J3QKK4;J3QKY2;J3QLU5;J3QR33;J3QRQ6;J3QS55;J3QS83;Q9Y2J2 AB023204;ABBA01049879;ABBA01049880;ABBA01049881;ABBA01049882;AF069072;AF515797;AK094952;AK128531;AK292583;AK294610;AK294690;AK295453;AK297406;AK303679;AK307751;AK307904;AK314438;AL832598;AMYH02034246;AMYH02034247;AP001032;AP005059;AP005671;BC006141;BC008377;CH471113;DA317127;DB301724;GN344055;NM_001281533;NM_001281534;NM_001281535;NM_012307;XM_005258085;XM_005258086;XM_005258087;XM_005258088;XM_005258089;XM_005258090;XM_005258091;XM_006722301;XM_006722302;XM_006722303;XM_006722304;XM_006722305;XM_006722306;XM_006722307;XM_006722308;XM_006722309;XM_006722310;XM_006722311;XM_006722312;XM_006722313;XM_006722314;XM_006722315;XM_006722316 AAC79806;AAH06141;AAH08377;AAM48247;BAA76831;BAF85272;BAG37049;BAG52962;BAG54690;BAH11823;BAH11849;BAH12074;BAH12571;BAH14014;CAY55963;EAX01644;EAX01645;NP_001268462;NP_001268463;NP_001268464;NP_036439;Q9Y2J2;XP_005258142;XP_005258143;XP_005258144;XP_005258145;XP_005258146;XP_005258147;XP_005258148;XP_006722364;XP_006722365;XP_006722366;XP_006722367;XP_006722368;XP_006722369;XP_006722370;XP_006722371;XP_006722372;XP_006722373;XP_006722374;XP_006722375;XP_006722376;XP_006722377;XP_006722378;XP_006722379 Hs.213394 1687317;1694702;1724709;1734560;1855729;2108757;5017635 D18S1246;D18S920E;EPB41L3;EPB41L3__7597;G43541;RH122558;RH98322 4.1B;DAL-1;DAL1;FLJ37633;KIAA0987 OTTHUMP00000162300;band 4.1-like protein 3;differentially expressed in adenocarcinoma of the lung protein 1;erythrocyte protein band 4.1-like 3 protein-coding ENSG00000082397 HGNC:3380 05622 605331 VALIDATED 1605128 EPB41 erythrocyte membrane protein band 4.1 The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009] 1 1 1 p33-p32 27609687 27842706 + 29213603 29446558 + 28887091 29120046 + 6480464;6484113;7240710;8554872;8699517 10189366;10359596;10692436;10874042;10887144;11003675;11017195;11071908;11423550;11432737;11737230;12044158;12049649;12130521;12181426;12239178;12427749;12477932;12522012;12542678;12601556;12807908;12901833;12960380;1430200;15040429;15184364;15238148;15489334;15525677;15527767;15564380;15611095;15714879;15731777;15834631;16060676;16157202;16254212;16341674;16344560;16368534;16368544;1639060;1647028;16537540;16669616;16710414;16881872;17087826;17298666;17353931;17500595;17715393;17994571;18029348;18079699;18212055;18691159;18952129;19338061;19460752;19624891;19729518;19738201;19794081;20007969;2022644;20797695;20863723;21139048;21486941;2171679;21750196;21808284;21848512;21890473;22083953;22197999;22731252;23000965;23663475;2384598;23943871;24529757;24607279;2808371;2968981;3194408;3223413;3375238;3467321;3531202;3693401;6894932;7673158;7937897;8423235;8434260;8922391;9207085;9531554;9598318;9645944;9660868;9694734 2035 P11171;Q1WWM3;Q29RX4;Q59F12 AB209649;ABBA01035066;ABBA01035067;ABBA01035068;ABBA01035069;ABBA01035070;ABBA01035071;ABBA01035072;ABBA01035073;ABBA01035074;ABBA01035075;AF156225;AF156226;AI076831;AI819579;AK299093;AK299736;AK307816;AK310655;AL009181;AL138785;AL357500;AL833483;AMYH02000638;AMYH02000639;AMYH02000640;AMYH02000641;AMYH02000642;AMYH02000643;AMYH02000644;AMYH02000645;BC009063;BC039079;BC096104;BC096105;BC113841;BC114450;BE257308;BM465039;BM740451;BM997767;BU184161;CH471059;DA480006;J03796;M14993;M61733;NG_013344;NM_001166005;NM_001166006;NM_001166007;NM_004437;NM_203342;NM_203343;R94392;XM_005245753;XM_005245757;XM_005245760;XM_005245761;XM_005245763;XM_005245764;XM_005245765;XM_005245767;XM_005245768;XM_005245769;XM_005245770;XM_005245772;XM_005245773;XM_005245774;XM_006710434;XM_006710435;XM_006710436;XM_006710437;XM_006710438;XM_006710439;XM_006710440 AAA35793;AAA35794;AAA35795;AAA35797;AAD42222;AAD42223;AAH39079;AAH96104;AAH96105;AAI13842;AAI14451;ABW03751;BAD92886;BAH12948;BAH13113;EAX07662;EAX07663;EAX07664;EAX07665;EAX07666;EAX07667;EAX07668;NP_001159477;NP_001159478;NP_001159479;NP_004428;NP_976217;NP_976218;P11171;XP_005245810;XP_005245814;XP_005245817;XP_005245818;XP_005245820;XP_005245821;XP_005245822;XP_005245824;XP_005245825;XP_005245826;XP_005245827;XP_005245829;XP_005245830;XP_005245831;XP_006710497;XP_006710498;XP_006710499;XP_006710500;XP_006710501;XP_006710502;XP_006710503 Hs.175437;Hs.708933;Hs.712722 1336246;1653440;1682133;1701678;1711082;1733034;1745761;1758125;1759777;1778668;1848177;1852401;1856391;2108061;2132579;2154563;2155337;2186718;5020948;5037552;5109281 AL009314;D1S1392;D1S1425;D1S2854;D1S3509;D1S3570;D8S2279;EPB41__7595;G34843;G34848;G35510;GDB:636080;RH104511;RH68503;RH98235;SHGC-147460;SHGC-19730;SHGC-36135;SHGC-74472;SHGC-74515;SHGC-86180 4.1R;EL1;EPB4.1;HE;P4.1 OTTHUMP00000003770;OTTHUMP00000003771;OTTHUMP00000003772;OTTHUMP00000003773;OTTHUMP00000003774;band 4.1;elliptocytosis 1, RH-linked;erythrocyte surface protein band 4.1;protein 4.1 APPROVED protein-coding ENSG00000159023 HGNC:3377 00558 130500;611804 REVIEWED 1348118 EPB41L2 erythrocyte membrane protein band 4.1-like 2 ENCODES a protein that exhibits actin binding (inferred); cytoskeletal protein binding (inferred); PH domain binding (inferred); INVOLVED IN cortical actin cytoskeleton organization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN COP9 signalosome; extracellular vesicular exosome; focal adhesion; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 6 6 6 q23 131906821 132131081 - 131160487 131384462 - 130839347 131063322 - 1580863;6480464;8554872 11050113;11274145;12044158;12181426;12239178;12477932;12974671;15116094;15138281;15302935;15851553;16344560;16713569;16964243;17353931;18023480;18029348;18850735;20189245;20379614;20936779;21139048;21832049;21890473;21906983;21963094;22003208;22331829;22586326;22797925;22863883;22903471;23000965;23201780;23354586;23382691;24816145;25015289;8619474;8889548;9110174;9531554;9598318;9828140 2037 B4DJ76;E9PHY5;E9PIG0;E9PII3;E9PJP4;E9PK52;E9PMG5;E9PMV8;E9PN54;E9PPC9;E9PQD2;E9PQN0;E9PRG1;H0Y5B0;I6L9B1;O43491;O60642;Q59FD8;Q6R5J7;Q6ZSX4 AA428071;AB209522;ABBA01025897;ABBA01025898;ABBA01025899;AF027299;AF054999;AJ251209;AK127088;AK295124;AK295958;AK307764;AL050384;AL109938;AL355360;AL357496;AL358943;AL698619;AMYH02014486;AMYH02014487;AMYH02014488;AMYH02014489;AY047584;AY512660;BC034718;BI461477;BM679819;BQ446747;CD724095;CH471051;CR749262;CR936793;DA108957;NM_001135554;NM_001135555;NM_001199388;NM_001252660;NM_001431;XM_005266840;XM_005266841;XM_006715356;XM_006715357;XM_006715358;XM_006715359;XM_006715360;XM_006715361;XM_006715362;XM_006715363;XM_006715364;XM_006715365;XM_006715366;XM_006715367;XM_006715368 AAC09353;AAC16923;AAH34718;AAK95850;AAR97579;ADZ15931;BAC86822;BAD92759;BAG58150;BAG58738;CAB43682;CAC17607;CAH18118;EAW48061;EAW48062;EAW48063;EAW48064;EAW48065;NP_001129026;NP_001129027;NP_001186317;NP_001239589;NP_001422;O43491;XP_005266897;XP_005266898;XP_006715419;XP_006715420;XP_006715421;XP_006715422;XP_006715423;XP_006715424;XP_006715425;XP_006715426;XP_006715427;XP_006715428;XP_006715429;XP_006715430;XP_006715431 Hs.486470;Hs.708219 1338197;1699314;1715187;1716897;1725793;1739433;1768441;1789250;1849087;2159844;2166611;2174123;2185598;5109657 A007I42;D17S1647E;D6S1209E;D6S1572;G62135;G65625;RH103243;RH119844;RH121741;RH12620;RH45311;RH46849;SGC34451;STS-W68163 4.1-G;4.1G;DKFZp781D1972;DKFZp781H1755 OTTHUMP00000017197;OTTHUMP00000233453;OTTHUMP00000233454;OTTHUMP00000233488;OTTHUMP00000233489;OTTHUMP00000233490;OTTHUMP00000233519;OTTHUMP00000233520;OTTHUMP00000233521;OTTHUMP00000233522;OTTHUMP00000233653;band 4.1-like protein 2;erythrocyte membrane protein band 4.1 like-protein 2;generally expressed protein 4.1 protein-coding ENSG00000079819 HGNC:3379 09126 603237 VALIDATED 733700 EPB41L1 erythrocyte membrane protein band 4.1-like 1 Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The protein encoded by this gene is a neuronally-enriched protein that is structurally similar to EPB41. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 20 20 20 q11.2-q12 31449112 31569493 + 34679426 34820721 + 36091504 36232799 + 6480464;8699517;7240710;8554872 10414974;10594058;11050113;11136977;11780052;12181426;12444087;12477932;12574408;12676536;14697242;14702039;15345747;15489334;16368544;16964243;17081983;17500595;18311135;19165527;19322201;20468064;20471030;21044950;21832049;21890473;22863883;22939629;23000965;23400781;23563607;23602568;9205841;9570967;9828140 2036 B7Z653;H0Y482;H7C2K6;Q4VXN0;Q4VXN1;Q4VXN2;Q4VXN5;Q4VXN6;Q4VXN7;Q4VXN8;Q9H4G0;X6RC15 AB002336;ABBA01019127;ABBA01019128;ABBA01019129;ABBA01019130;AK096848;AK126875;AK299817;AL035420;AL121895;AMYH02037014;AMYH02037015;AY049789;BC013885;BC040259;BC113858;BC113899;BC131796;BI457725;BX537978;CH471077;CR936825;DB503878;KF456887;NG_031853;NM_001258329;NM_001258330;NM_001258331;NM_012156;NM_177996;XM_005260319;XM_005260320;XM_005260321;XM_005260322;XM_005260323;XM_005260324;XM_005260325;XM_006723735;XM_006723736;XM_006723737;XM_006723738;XM_006723739;XM_006723740;XM_006723741 AAH13885;AAH40259;AAI13859;AAI13900;AAI31797;AAL15446;ABM82278;ABM85457;ACE86750;ACE87436;ACE87847;ACT64366;BAA20796;BAC86733;BAG53378;BAH13139;CAD97941;EAW76144;EAW76145;EAW76146;NP_001245258;NP_001245259;NP_001245260;NP_036288;NP_818932;Q9H4G0;XP_005260376;XP_005260377;XP_005260378;XP_005260379;XP_005260380;XP_005260381;XP_005260382;XP_006723798;XP_006723799;XP_006723800;XP_006723801;XP_006723802;XP_006723803;XP_006723804 Hs.437422 1340125;1341019;1341646;1659362;1660764;1677510;1713663;1778563;2107057;2111029;2124119;2152056;2191181;5014149;5022779;5493629 BCD2079;D20S143E;D20S587E;D20S865;D20S870;D20S896;EPB41L1;EPB41L1__7596;G30416;MARC_15779-15780:1017948347:1;RH120714;RH129967;RH38950;UniSTS:489963;WI-22026;Z94296 4.1N;DKFZp686H17242;KIAA0338;MGC11072;MRD11 OTTHUMP00000030825;OTTHUMP00000030826;OTTHUMP00000030827;OTTHUMP00000030829;band 4.1-like protein 1;erythrocyte protein band 4.1-like 1;neuron-type nonerythroid protein 4.1;neuronal protein 4.1 APPROVED protein-coding ENSG00000088367 HGNC:3378 04193 602879;614257 REVIEWED 7248357 EPB41L4A-AS2 EPB41L4A antisense RNA 2 (head to head) INTERACTS WITH all-trans-retinoic acid 5 5 5 q22.2 107700994 107702389 + 111755280 111756675 + 112419583 112420978 + 6480464 12477932;14702039;21145461 54508 Q9NUN8 ABBA01069057;AC010265;AK002097;AMYH02011975;BC107117;BC107118;BX089466;NR_027706 AAI07118;AAI07119;BAA92083 Hs.591264 ncrna ENSG00000278921 HGNC:25643 VALIDATED 2290192 EPB41L4A-AS1 EPB41L4A antisense RNA 1 INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; copper atom 5 5 5 q22.2 107441942 107443917 + 111496223 111498198 + 112160526 112162501 + 6480464 12477932;15489334;15994437;16344560;16973895;9490301 114915 AB002437;AB048207;ABBA01069062;AC010261;AMYH02011972;BC101844;BC112077;CH471086;DA266578;HG498332;HG498334;NR_015370 BAB64313;EAW49016 Hs.12082 1672030;1771391;5493391 SGC31219;SGC33358;UniSTS:485944 C5orf26;MGC126893;MGC138282;NCRNA00219;TIGA1 APPROVED ncrna HGNC:30749 18184 VALIDATED 1313258 EPB42 erythrocyte membrane protein band 4.2 Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q15-q21 20260253 20284152 - 43489425 43513323 - 43197227 43221125 - 1580863;1598910;6480464;7240710;8554872;8699517 1558976 10333496;10610180;11390390;11936273;12049649;12176912;12393467;12434312;12477932;12576321;12646258;1284644;12970870;1350227;14551146;1544941;16718373;1689063;1729896;18051367;1826225;18624398;19269200;20007969;2052563;21039340;2300550;24624460;2968981;3276554;7626035;7772513;7803799;7819064;7925374;8499466;8608138;8889548 2038 F5H563;H3BPV8;H3BTE6;H3BUR1;P16452 ABBA01038351;AC068724;AK297146;AK297663;AMYH02030300;BC096093;BC096094;BC096095;BC099627;BU741892;CH471125;DW451374;L06519;M29399;M30646;M30647;M60298;NG_011505;NM_000119;NM_001114134;XM_005254225 AAA35798;AAA36401;AAA36402;AAA52385;AAA74589;AAH96093;AAH96094;AAH96095;AAH99627;BAH12509;BAH12644;EAW92591;EAW92592;NP_000110;NP_001107606;P16452;XP_005254282 Hs.368642 1645444;1671187;1677508;1698126;5125140 RH102596;RH17526;RH45576;RH79589;WI-16760 MGC116735;MGC116737;P4.2;PA;SPH5 OTTHUMP00000161294;erythrocyte protein 4.2;erythrocyte surface protein band 4.2 APPROVED protein-coding ENSG00000166947 HGNC:3381 01517 177070;612690 REVIEWED 1314407 EPC1 enhancer of polycomb homolog 1 (Drosophila) This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 10 10 10 p11 32323085 32401333 - 32556644 32667726 - 32267716 32378798 - 1580863;6480464;9495926 21502417 10527689;10737800;10976108;11318600;12477932;12963728;14702039;14966270;15146197;15164054;15196461;15489334;15536069;15647280;16344560;16385451;16387653;16712791;16964243;17192267;17573780;18984674;19359245;19484761;20332121;20946988;22467210;22509378;23103869;24159190;24166297;7829101;8889548;9237112 80314 Q68DJ2;Q9H2F5 AA553969;ABBA01033381;ABBA01033382;AF277374;AF286905;AK024329;AK092304;AK299676;AK309309;AK309822;AL158834;AL391839;AL445071;AMYH02022582;AMYH02022583;AMYH02022584;AW021213;BC036529;BG719217;BI029680;BI461563;BM717660;BQ007483;BU195035;BX476993;CB159405;CH471072;CN370473;CR749375;D60263;DA333251;DB070690;DB447845;NM_001272004;NM_001272019;NM_001282391;NM_025209;NR_104159;NR_104160;XM_006717510;XR_428649 AAG41402;AAH36529;AAK60501;BAB14888;BAC03857;BAG61585;CAH18228;EAW85972;EAW85973;EAW85974;EAW85975;NP_001258933;NP_001258948;NP_001269320;NP_079485;Q9H2F5;XP_006717573 Hs.167805 1684734;1726957;1768703;2110515;2141415;2144315;2157268;2178430;2182009;2191637;5016596;5022200;5022450;5022933;5124407 1412;AFM353tb5;D10S275;G30548;G62724;GDB:631802;L18426;MARC_31672-31673:1068148216:1;MARC_33810-33811:1053549243:1;RH45815;RH69050;SHGC-57716;STS-N49717;WI-18095;ksks391 DKFZp781P2312;Epl1 OTTHUMP00000019413;OTTHUMP00000019414;OTTHUMP00000019416;enhancer of polycomb 1;enhancer of polycomb homolog 1 protein-coding ENSG00000120616 HGNC:19876 09941 610999 REVIEWED 1320612 EPB41L4B erythrocyte membrane protein band 4.1 like 4B ENCODES a protein that exhibits cytoskeletal protein binding (inferred); structural constituent of cytoskeleton (inferred); INVOLVED IN actomyosin structure organization; ASSOCIATED WITH Melanoma (inferred); FOUND IN apical part of cell; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 9 9 9 q31-q32 82433463 82582331 - 111934254 112083021 - 109171974 109320964 - 6480464;8554872 10603000;10783258;14521927;14576147;19322201;20379614;21890473;21988832;23662806;23664528 54566 Q59GC2;Q9H329;Q9NSG9;Q9NX84 AA588823;AB032179;AB209187;ABBA01042765;ABBA01042766;ABBA01042767;ABBA01042768;AF153416;AF153418;AI432950;AJ420414;AK000388;AK025249;AL353947;AL358815;AL359963;AMYH02021433;AMYH02021434;CH471105;NM_018424;NM_019114;R39224;XM_006717144;XM_006717145;XM_006717146 AAG43366;AAG43368;AAI56132;BAA91133;BAA96079;BAB15091;BAD92424;CAB89252;EAW59041;EAW59042;EAW59043;EAW59044;NP_060894;NP_061987;Q9H329;XP_006717207;XP_006717208;XP_006717209 Hs.591901 1334974;1337446;1653010;1656867;1667655;1685325;1689436;1757623;1759179;1770356;1780132;2117344;2117991;2191397;5093822;5118997 A009X20;D9S1677;D9S1835;D9S310;G32944;MARC_21252-21253:1032892750:1;RH12312;RH36598;RH80081;RH93040;SHGC-145521;SHGC-152829;SHGC-154438;SHGC-16602;STS-H66834;STS-H94262 CG1;DKFZp761N1814;EHM2;FLJ21596 FERM-containing protein CG1;OTTHUMP00000021883;OTTHUMP00000021884;band 4.1-like protein 4B protein-coding ENSG00000095203 HGNC:19818 09940 610340 VALIDATED 1314419 EPB41L4A erythrocyte membrane protein band 4.1 like 4A Members of the band 4.1 protein superfamily, including EPB41L4A, are thought to regulate the interaction between the cytoskeleton and plasma membrane (Ishiguro et al., 2000 [PubMed 10874211]).[supplied by OMIM, Jul 2008] 5 5 5 q21.3 107444034 107700724 - 111478139 111755187 - 112142442 112419490 - 1580863;6480464;8554872 10783258;10874211;12477932;14702039;17081983;20379614;21810271;21832049;23602568;7983158;8358434 64097 Q8N8X1;Q8NEH8;Q9HCS5 AA350575;AA406206;AB030240;ABBA01069057;ABBA01069058;ABBA01069059;ABBA01069060;ABBA01069061;ABBA01069062;AC010261;AC010265;AC104126;AK021578;AK096057;AK123285;AL117425;AMYH02011972;AMYH02011973;AMYH02011974;AMYH02011975;BC015441;BC031042;BC114632;BC114942;CB048933;CH471086;KF457969;NM_022140;XM_005272043;XM_006714667 AAH31042;AAI14943;AAI60044;ADZ15957;BAB17229;BAC04690;EAW49010;EAW49011;EAW49012;EAW49013;NP_071423;Q9HCS5;XP_005272100;XP_006714730 Hs.584954 1647998;1672030;1674390;1676712;1682511;1713473;1726937;1765955;1771391;1780850;1785558;1785560;1785738;2169727;5037552;5037746 D1S3696;D8S2279;G62713;RH120220;RH12382;RH92038;RH93081;SGC31219;SGC33358;SHGC-149352;SHGC-154959;SHGC-154960;SHGC-81567;STS-AA007608;STS-N22681;bac53003S DKFZp566L203;EPB41L4;FLJ38738;NBL4 OTTHUMP00000222912;band 4.1-like protein 4A;erythrocyte protein band 4.1-like 4 APPROVED protein-coding ENSG00000129595 HGNC:13278 09939 612141 VALIDATED 1322786 EPB41L5 erythrocyte membrane protein band 4.1 like 5 ENCODES a protein that exhibits cytoskeletal protein binding (inferred); protein domain specific binding (inferred); INVOLVED IN actomyosin structure organization (inferred); apical constriction (inferred); axial mesoderm morphogenesis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; arsane 2 2 2 q14.2 114097494 114263547 + 120770604 120936697 + 120013028 120179121 + 6480464;8554872 10997877;12477932;14702039;17920587;18729074;21139048;21182205;21832049;21890473;22747683;23000965;24457600 57669 Q53T34;Q9HCM4 AB046768;ABBA01045917;ABBA01045918;AC012363;AC016691;AC079879;AK023019;AK290895;AK304831;AK307458;AMYH02004655;AMYH02004656;AMYH02004657;AMYH02004658;AMYH02004659;AMYH02004660;BC032822;BC054508;CH471103;DB524549;NM_001184937;NM_001184938;NM_001184939;NM_020909;XM_005263719;XM_005263720;XM_006712651;XM_006712652;XM_006712653 AAH32822;AAH54508;AAX88859;AAY14798;AAY14980;ACE86792;ACE87479;BAB13374;BAB14360;BAF83584;BAG65576;EAW95233;EAW95234;EAW95235;EAW95236;NP_001171866;NP_001171867;NP_001171868;NP_065960;Q9HCM4;XP_005263776;XP_005263777;XP_006712714;XP_006712715;XP_006712716 Hs.369232 1665339;1683359;1688608;1688875;1699918;1751701;2132820;2143883 A002V05;D2S2125;NIB1668;RH103567;RH79778;RH93110;SHGC-105731;SHGC-36338 BE37;FLJ12957;KIAA1548;YMO1 OTTHUMP00000162130;OTTHUMP00000203672;OTTHUMP00000203710;OTTHUMP00000206733;OTTHUMP00000206734;band 4.1-like protein 5 protein-coding ENSG00000115109 HGNC:19819 13273 611730 VALIDATED 1348463 EP300 E1A binding protein p300 This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 25294977 25382428 + 41488614 41576081 + 41092302 41180083 + 1580966;1580863;2289907;2289908;2312274;2312286;2312287;2312263;2312288;2312265;2311717;2311713;2311716;2326123;5128512;5147892;6480464;6483358;6483503;6484113;6907045;7240710;7296925;7364733;7327146;7296921;7349318;7296926;7364750;7327202;7257568;7327187;7349341;7349392;7349382;5686888;7257563;7327154;8554872;8699517;9104959 11306337;12725419;14633682;15706485;16394250;17083329;17125594;17163421;17220215;18292809;18351623;18413674;18657544;18697823;19103185;19268536;19364912;19577077;20375365;20396958;20538901;21151613;21705428;21885871;22143029;22196858;22228707;22292478;23029358;23176208;23211718;23585551;23737551;23936185 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011;19716452;19730683;19732026;19754958;19801601;19805293;19812265;19828133;19838210;19880525;19880750;19883617;19887647;19913121;19915063;19940151;19948376;19961954;19966416;19995069;20012529;20014264;20019387;20065107;20069553;20081228;20101207;20107328;20154269;20226045;20227660;20234175;20301699;20333651;20347598;20364308;20368990;20388208;20418869;20438716;20448036;20471956;20505343;20534441;20564330;20578042;20587414;20590529;20603618;20628086;20676058;20711222;20716062;20717166;20720004;20810990;20851880;20856196;20859991;20869593;20870727;20932315;20935208;20936779;21057544;21079652;21108945;21131905;21139048;21148070;21179216;21187066;21187340;21204735;21205329;21212407;21232847;21245169;21252119;21268077;21268080;21282530;21304179;21357426;21390126;21413932;21444723;21471221;21489275;21493871;21513714;21524463;21525722;21565167;21567395;21620138;21629263;21669392;21669397;21670263;21697490;21701559;21726808;21764211;21764752;21775285;21789216;21791614;21812888;21828133;21857970;21875947;21890473;21901101;21903422;21937452;21951552;21967847;21988832;22013068;22033265;22071692;22100137;22100894;22116549;22132193;22177454;22179676;22203677;22207202;22227192;22227247;22231458;22266186;22303793;22318730;22384255;22387215;22415975;22440742;22474372;22544934;22672907;22709982;22770219;22778253;22787115;22810585;22936669;23044042;23121466;23125313;23133622;23172223;23184057;23269275;23275444;23285190;23329847;23384777;23402884;23419874;23437037;23441852;23443559;23455922;23523631;23559008;23589370;23602568;23618863;23643164;23670564;23728348;23759652;23762317;23770402;23792675;23796514;23863879;23870121;23880157;23880760;23934153;23966271;23986795;24001231;24042437;24058639;24096006;24101509;24112038;24142575;24157709;24167073;24236097;24270407;24338025;24382891;24457600;24468085;24469461;24530506;24581496;24636898;24821727;25074812;7523245;7566098;7758944;7760804;7870179;8621548;8684459;8824223;8889548;8889549;8917528;8918891;8945521;8986769;8995708;9001254;9096323;9194564;9194565;9199306;9267036;9288740;9343424;9383702;9407140;9488451;9528808;9560267;9590696;9625762;9659901;9660747;9660935;9679056;9710619;9733796;9733868;9742083;9744860;9773981;9799238;9806899;9809062;9811832;9812974;9826778;9843502;9843571;9858599;9859997;9862959;9887100;9920895;9989503;9990060 2033 Q09472;Q7Z6C1 AA235167;ABBA01055620;ABBA01055621;AI302618;AL035658;AL080243;AL096765;AMYH02038426;AMYH02038427;AMYH02038428;BC053889;BQ428177;BQ921059;BQ930911;CA393789;CB132795;CB155618;CF130065;CH471095;CN278277;CN278282;CS498706;D53020;DB047746;DQ229147;N57495;NG_009817;NM_001429;U01877;XM_006724165 AAA18639;AAH53889;AAI72280;ABB16440;BAG10860;CAM82745;EAW60408;NP_001420;Q09472;XP_006724228 Hs.517517;Hs.655211 1656710;1659465;1788732;1791522;1855505;2108059;2144953;2145735;2152202;2178814;2181726;5023733;5093648 A009U19;AU048745;D22S1541;EP300_8165;G32842;PMC113761P2;RH136048;RH46342;RH65941;SGC38348;STS-N57495;STS-U01877;WI-18189 KAT3B;RSTS2;p300 E1A-associated protein p300;E1A-binding protein, 300kD;OTTHUMP00000198754;histone acetyltransferase p300;p300 HAT APPROVED protein-coding ENSG00000100393 HGNC:3373 04078 114500;602700;613684 REVIEWED 1605556 EPGN epithelial mitogen The protein encoded by this gene is a member of the epidermal growth factor family. Members of this family are ligands for the epidermal growth factor receptor and play a role in cell survival, proliferation and migration. This protein has been reported to have high mitogenic activity but low affinity for its receptor. Expression of this transcript and protein have been reported in cancer specimens of the breast, bladder, and prostate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 4 4 4 q13.3 72534457 72539560 + 75174187 75182520 + 74308470 74316803 + 2317963;6480464;8554872 15982853 112783;11278323;12477932;12975309;15340161;15611079;16469638;16712791;17169360;19760033;21514161;22193422;22260327;22610502;22747683 255324 A0PK19;H3BM13;Q6UW88 ABBA01022994;AC097470;AK289455;AMYH02009475;AY358920;BC127938;BC127939;CB150835;DQ235264;DQ235265;DQ235266;DQ235267;DQ235268;DQ235269;JA738739;NM_001270989;NM_001270990;NM_001270991;NM_001270992;NM_001270993;NR_073114;NR_073117;XM_005265666;XM_006714170 AAI27939;AAI27940;AAI40432;AAI46548;AAQ89279;ABB60043;ABB60044;ABB60045;ABB60046;ABB60047;ABB60048;BAF82144;CCF77022;NP_001257918;NP_001257919;NP_001257920;NP_001257921;NP_001257922;Q6UW88;XP_005265723;XP_006714233 Hs.401237 1852125;2169064;5015861;5020988;7185938 D10S16;D22S958;SHGC-50860;SHGC-8120 ALGV3072;EPG;FLJ75542;PRO9904 OTTHUMP00000219187;OTTHUMP00000219188;OTTHUMP00000219189;OTTHUMP00000219190;OTTHUMP00000219191;OTTHUMP00000219194;epigen;epithelial mitogen homolog APPROVED protein-coding HGNC:17470 10866 REVIEWED 1316366 EPC2 enhancer of polycomb homolog 2 (Drosophila) INVOLVED IN chromatin modification (inferred); DNA repair (inferred); regulation of transcription, DNA-templated (inferred); PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Piccolo NuA4 histone acetyltransferase complex (inferred); INTERACTS WITH amiodarone; formaldehyde; methyl methanesulfonate 2 2 2 q23.1 143116707 143259286 + 149402560 149545136 + 148644991 148788491 + 6480464;9495926;8554872 21502417 12477932;14702039;14966270;15489334;15647280;16387653;17573780;18330920;18464913;20332121;20379614;20946988;21123754;21890473;22659877;24166297 26122 C9J1X4;E7ETK1;E9PBA8;H7C0K5;Q52LR7 ABBA01028002;ABBA01028003;ABBA01028004;AC016763;AC017080;AF286904;AK001433;AK002010;AK125789;AL117558;AMYH02004955;AMYH02004956;AMYH02004957;BC093818;BC093820;CH471058;NM_015630;XM_006712411 AAH93818;AAH93820;AAK60500;AAY14754;AAY24275;BAA91688;BAA92032;BAG54249;CAB55993;EAX11547;EAX11548;EAX11549;NP_056445;Q52LR7;XP_006712474 Hs.23270 1647092;1669943;1748405;1850582;2172461 D2Ertd694e;D2S2894;G34100;RH77961;WI-17630 DKFZp566F2124;EPC-LIKE OTTHUMP00000204350;enhancer of polycomb homolog 2 protein-coding ENSG00000135999 HGNC:24543 13274 611000 VALIDATED 1347008 EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) INVOLVED IN autophagic vacuole maturation (inferred); autophagy (inferred); endocytic recycling (inferred); ASSOCIATED WITH Abnormal posturing (inferred); Abnormality of the thymus (inferred); Absent corpus callosum cataract immunodeficiency (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 8-bromo-3',5'-cyclic AMP 18 18 18 q12.3 40235723 40355455 - 43427574 43547305 - 45800599 45967339 - 737633;6480464;8699517;8554872;7240710 12477932 10997877;14702039;15231748;15722956;16344560;17549423;18649358;20550938;21890473;23222957;8889548 57724 K7EM87;K7ENK5;K7ENS1;K7EPN4;Q9BTI0;Q9HCE0 AB046852;ABBA01022330;ABBA01022331;ABBA01022332;AC087685;AC090355;AK023817;AK094080;AL583915;AMYH02034650;BC003695;BC036911;BC130614;BC144103;BC144104;BC144105;BM680107;CH471088;DB065073;DB235183;KF510446;NM_020964;XM_005258323;XM_005258324;XM_006722516;XM_006722517 AAH03695;AAH36911;AAI30615;AAI72417;BAB13458;BAB14689;CAC29499;EAX01465;NP_066015;Q9HCE0;XP_005258380;XP_005258381;XP_006722579;XP_006722580 Hs.514843 1654188;1656356;1660201;1695694;1734550;1760293;1854010;2134231;2160360 D18S904E;G19287;L17778;SHGC-132901;SHGC-35981;SHGC-78736;STS-D60334;STS-N25085;WI-17792 DKFZp667P2311;HEEW1;KIAA1632;hEPG5 OTTHUMP00000163465;VICIS;ectopic P granules protein 5 homolog;hypothetical protein LOC57724 APPROVED protein-coding ENSG00000152223 HGNC:29331 11157 242840;615068 VALIDATED 1345999 EPCAM epithelial cell adhesion molecule This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008] 2 2 2 p21 47435038 47452920 + 47596287 47614167 + 47369148 47387028 + 1580863;6480464;7240710;8554872;8699517 10728619;10761711;11058587;11080501;11306819;11487543;12477932;12592372;12642870;12926061;14557747;15102668;15131054;15195135;15240533;15328177;15342556;15489334;15557427;15637741;15922867;15942643;16054130;16096650;16344560;16616808;17110338;17143526;17186549;17192395;1729376;17579117;17981779;18006828;18025791;18285265;18316609;18398839;18508568;18508581;18572020;18688077;18949402;19002182;19012040;19019843;19098912;19132011;19136966;19141643;19150350;19157508;19177550;19294417;19302955;19401692;19443410;19455606;19574774;19584271;19585654;19723880;19785009;19820410;19850885;19925656;20006402;20012351;20064925;20097833;20137349;20301390;20352488;20571936;20579375;20606402;20606680;20628624;20683652;20707805;20855955;20964518;20976159;2108441;21107020;21115857;21139048;21145788;21152431;21281469;21281486;21309036;21315192;21399662;21415054;21514185;21601258;21694727;21785818;21791569;21813394;21890473;21906983;22002520;22018336;22102232;22130902;22132731;22322561;22388758;22391566;22396540;22514625;22531681;22547929;22718295;22901285;22969266;22974215;22987628;22989882;22990361;22993038;23011824;23060348;23072840;23110550;23153310;23161021;23216644;23230278;23264089;23332132;2333300;23378578;23409978;23411950;23462293;23486470;23519058;23594482;23616258;23625795;23672314;23679813;23694980;23758908;23801599;23830302;23886796;23918549;23924854;23988446;24061641;24076216;24292452;24304228;24309103;24337010;24418860;24465008;24489952;24583282;2463074;2469722;24705864;24728493;24786601;2911574;3770992;7693697;8382772;9382878 4072 B5MCA4;C9JKY3;P16422 ABBA01075158;ABBA01075159;AC079775;AK026585;AMYH02003754;AMYH02003755;AW050533;BC014785;BP262680;CH471053;CQ800737;CR542259;CR542283;DA963872;DB044092;M26481;M32306;M32325;M33011;M93036;NG_012352;NM_002354;X14758 AAA35723;AAA35861;AAA36151;AAA59543;AAB00775;AAH14785;AAY15095;ABM82264;ABM85446;CAA32870;CAG28087;CAG47055;CAG47078;EAX00218;EAX00219;NP_002345;P16422 Hs.542050 1646124;1662377;1682720;1849638;2218072 RH65104;RH67888;STS-M26481;STS-N92767;TACSTD1_2793 CO-17A;CO17-1A;DIAR5;EGP;EGP-2;EGP314;EGP34;EGP40;ESA;Ep-CAM;GA733-2;HNPCC8;KS1/4;KSA;M4S1;MIC18;MK-1;TACST-1;TACSTD1;TROP1;hEGP-2 OTTHUMP00000159073;OTTHUMP00000200307;OTTHUMP00000200426;adenocarcinoma-associated antigen;cell surface glycoprotein Trop-1;epithelial glycoprotein 314;human epithelial glycoprotein-2;major gastrointestinal tumor-associated protein GA733-2;membrane component, chromosome 4, surface marker (35kD glycoprotein);tumor-associated calcium signal transducer 1 APPROVED protein-coding ENSG00000119888 HGNC:11529 01709 185535;613217;613244 REVIEWED 1347579 EPHA10 EPH receptor A10 Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008] 1 1 1 p34.3 36459675 36508664 - 38181646 38230824 - 37715900 37765152 - 737633;6480464;8554872 12477932 14702039;15489334;15777695;18819711;21737611;22219177;24144296;24403271;24924629 284656 F5GWI2;H0YCC9;H0YD12;H0YEP6;H0YER4;J3KQG3;Q4G0R4;Q5JZY3;Q8N289 ABBA01023268;ABBA01023269;ABBA01023270;AC104336;AJ781169;AJ872185;AK090974;AK131215;AK309089;AMYH02000800;AMYH02000801;AMYH02000802;AY726560;BC039363;BC041360;BC067734;BC112933;CH471059;NM_001099439;NM_173641;XM_006710584;XR_246258 AAH41360;AAH67734;AAI12934;BAC03561;BAD18404;CAG77605;CAI43321;EAX07321;EAX07322;EAX07323;NP_001092909;NP_775912;Q5JZY3;XP_006710647 Hs.129435 1336566;1677046;1761841;5015861;5022450;5024761;5037552;7185938 D10S16;D10S275;D1S186;D8S2279;RH36905;RH99295;SHGC-145791 FLJ16103;FLJ33655;MGC43817 EphA10s protein;OTTHUMP00000004519;OTTHUMP00000232296;ephrin type-A receptor 10 APPROVED protein-coding ENSG00000183317 HGNC:19987 08163 611123 VALIDATED 1343278 EPDR1 ependymin related 1 The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011] 7 7 7 p14.1 37944872 37976255 + 37960163 37991543 + 37920561 37951941 + 6480464 11248421;11749721;11943480;12477932;12690205;16344560;16713569;16908269;16954209;17302986;18374504;20379614;20556588;21732829;24089297 54749 A4D1W8;D6RIH7;Q96J80;Q9UM22 ABBA01056922;ABBA01056923;AC018634;AF361252;AJ250475;AK290885;AK309180;AMYH02015548;AY027862;BC000686;BC018299;CH236951;CH471073;DA938402;DB167672;DB303790;DQ914439;NM_001242946;NM_001242948;NM_017549 AAH00686;AAH18299;AAK15788;AAK26441;ABI84106;BAF83574;CAB60269;EAL23982;EAW94086;EAW94087;NP_001229875;NP_001229877;NP_060019;Q9UM22 Hs.563491 2163127 RH45952 EPDR;MERP-1;MERP1;UCC1 OTTHUMP00000128380;ependymin related protein 1;mammalian ependymin related protein 1;mammalian ependymin-related protein 1;upregulated in colorectal cancer gene 1 protein APPROVED protein-coding ENSG00000086289 HGNC:17572 16865 REVIEWED 1312265 EPHA1 EPH receptor A1 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008] 7 7 7 q34 137925469 137943251 - 143088205 143105985 - 143391068 143408892 - 1580863;6480464;6484113 10207129;10369740;10502115;10730216;11128993;11256076;11519828;12477932;12775584;12853948;14968112;15146197;15761153;15951569;16344560;16737551;16862074;16964243;17980912;18308734;18566674;18590698;18593464;18728013;18802966;18990944;19011600;19118217;19277044;19525919;19913121;19949912;20043122;20596523;20628086;21042754;21460840;21460841;21503576;21906983;22261062;22362770;22688511;22939624;23030051;23429488;24040450;24162737;2825356;8755474;9267020;9530499;9576626 2041 P21709 AA723562;AA723620;AA788809;ABBA01034136;ABBA01034137;AC092214;AF101171;AI057542;AK290351;AK313263;AMYH02016934;AU131228;BC130291;BC144156;CD653381;CH236959;CH471198;CN289899;CN289901;EU826604;EU826605;M18391;NM_005232;XM_006715879;XM_006715880;XR_428169;Z27409 AAA36747;AAD43440;AAI30292;AAS07458;ACF47640;ACF47641;BAF83040;CAA81796;EAL23789;EAW51845;EAW51846;EAW51847;NP_005223;P21709;XP_006715942;XP_006715943 Hs.89839 1688833;1698300;1849764;2110097;2129683;2162887;5121846 D20S1007;G10664;RH102690;RH12060;RH47177;RH69086;ZYX_3067 EPH;EPHT;EPHT1;MGC163163;hEpha1 EPH tyrosine kinase;OTTHUMP00000208856;eph tyrosine kinase 1;ephrin type-A receptor 1;erythropoietin-producing hepatoma amplified sequence;erythropoietin-producing hepatoma receptor;oncogene EPH;soluble EPHA1 variant 1;soluble EPHA1 variant 2;tyrosine-protein kinase receptor EPH APPROVED protein-coding ENSG00000146904 HGNC:3385 01554 179610 REVIEWED 6767326 EPHA1-AS1 EPHA1 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 7 7 7 q35 137942170 138056594 + 143104906 143220542 + 143407813 143523449 + 8554872 21460841;24162737 285965 ABBA01034136;ABBA01034137;ABBA01034138;AC073264;AC092214;AL833583;AMYH02016934;AMYH02016935;AMYH02016936;CH236959;HG500690;KF458627;NR_033897 Hs.642649 1718353;1728431;1755999;1869120;2116980;2124395;2143787 G63650;GDB:1317896;REN5229;RH122948;SHGC-142814;SHGC-56978;WI-11069 AC092214.10 APPROVED ncrna HGNC:27799 VALIDATED 8656061 EPHA5-AS1 EPHA5 antisense RNA 1 4 4 4 63993795 64017253 + 66535679 66559104 + 65669961 65693386 + 12477932;9847074 100144602 ABBA01022879;ABBA01022880;AC104137;AMYH02009352;AMYH02009353;BC017721;HG496952;HG496953;NR_034138 AAH17721 Hs.201854 ncrna ENSG00000250846 HGNC:50602 VALIDATED 68566 EPHA3 EPH receptor A3 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p11.2 89910744 90285017 + 89156674 89531284 + 89107524 89482134 + 1304509;68243;2301766;1581943;2317720;6480464;6484113;8554872 14670182;15561600;15671251;16083359;9458884 10207129;10730216;10987298;11128993;11256076;11494128;11870224;11877430;12477932;1311845;14697337;14702039;14759258;15355990;16186805;16239146;16941478;17192257;1737782;17910947;17955473;18385452;18547520;18814179;19351817;19469653;19678838;20657180;20838624;21124932;21190559;21415057;21454190;21988832;22242939;22350700;22829656;22863734;23324396;23410976;23602568;23970317;23991104;24024966;25015289;8070404;8188238;8559144;9195962;9245480;9267020;9530499;9576626;9632142;9685371;9751130;9932438 2042 C9JXA2;P29320;Q6P4R6 A28003;ABBA01004642;ABBA01004643;AC107028;AC109129;AC138973;AF213459;AF213460;AK024352;AK291411;AMYH02007227;AMYH02007228;AMYH02007229;AMYH02007230;BC026247;BC063282;CH471110;CS542492;GM868965;HM437236;KF457654;M83941;NG_023239;NM_005233;NM_182644;XM_005264715;XM_005264716 AAA58633;AAG43576;AAG43577;AAH63282;ADN43067;BAF84100;CAA01906;CAM91183;CAT16931;EAW68857;NP_005224;NP_872585;P29320;XP_005264772;XP_005264773 Hs.123642 1703798;1716577;1720045;1729464;2113754;2172734;5113664 AB056784;D3S1101;D3S2366;RH121633;RH123819;RH93446;SHGC-79129 EK4;ETK;ETK1;HEK;HEK4;TYRO4 EPH-like kinase 4;OTTHUMP00000213903;OTTHUMP00000213904;OTTHUMP00000213905;TYRO4 protein tyrosine kinase;eph-like tyrosine kinase 1;ephrin type-A receptor 3;human embryo kinase 1;tyrosine-protein kinase TYRO4;tyrosine-protein kinase receptor ETK1 APPROVED protein-coding ENSG00000044524 HGNC:3387 01555 179611 REVIEWED 732959 EPHA7 EPH receptor A7 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 6 6 6 q16.1 94370456 94550043 - 93949738 94129302 - 93240020 93419584 - 1580863;1304509;70732;2301957;6480464;6484113;8554872 15561600;16983667;7731712 10207129;10366629;10730216;11029633;11128993;11152476;11256076;12477932;14574404;14718574;15489334;16007213;16344560;17236141;17669470;17726105;18366728;18821581;19949912;20126984;20302756;20379614;21124932;21546767;21609571;21890473;21935409;21964981;21987572;21988832;22036564;22095909;22246354;24483146;7898931;8755474;8889548;9010230;9267020;9530499;9576626;9707552;9892426 2045 Q15375 AB209269;ABBA01040580;ABBA01040581;AK313529;AL121966;AL354857;AL591036;AL699163;AMYH02014121;BC027940;BC126125;BC126151;BC143857;BC143858;BM677016;CH471051;DA503795;GM868969;L36642;NG_033944;NM_001288629;NM_001288630;NM_004440;XM_005248669;XM_005248671;XM_006715369 AAA74243;AAH27940;AAI26126;AAI26152;AAI43858;AAI43859;BAD92506;BAG36308;CAT16938;EAW48518;EAW48519;EAW48520;EAW48521;NP_001275558;NP_001275559;NP_004431;Q15375;XP_005248726;XP_005248728;XP_006715432 Hs.73962 1298306;1684114;1725241;1768815;1795780;1858501 D6S1056;D6S1293;D6S1942;EPHA7_329;RH103361;RH118913 EHK-3;EHK3;EK11;HEK11 EPH homology kinase 3;EPH-like kinase 11;Eph homology kinase-3;OTTHUMP00000016875;ephrin type-A receptor 7;receptor protein-tyrosine kinase HEK11;tyrosine-protein kinase receptor EHK-3 APPROVED protein-coding ENSG00000135333 HGNC:3390 03721 602190 REVIEWED 1316258 EPHA2 EPH receptor A2 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010] 1 1 1 p36 14930817 14962560 - 16450832 16482582 - 16124337 16156087 - 1580975;1580976;1580863;6480464;6484113;7240710;8554872;8699517 16359662;16735461 10207129;10502115;10607706;10655584;10730216;11128993;11146556;11256076;11968011;12147253;12167657;12351647;12370823;12400011;12467573;12477932;12494475;12496364;12496371;12576426;12650608;12651595;12810680;12907451;14633601;14679012;14692877;14767510;14965363;14988728;15193868;15249202;15297418;15498927;15561974;15649254;15657067;15671550;15688035;15777695;15951569;16051609;16098464;16103880;16236711;16428472;16481735;16737551;16969087;17050670;17154180;17192257;17332925;17374733;17519535;17980912;18059341;18079969;18097589;18172271;18198190;18210872;18339848;18425361;18443431;18566674;18593464;18648668;18768213;18794797;18797457;18991394;19005574;19048396;19074825;19101799;19193766;19223760;19264906;19306328;19322201;19523119;19531623;19573808;19581412;19642143;19649315;19690146;19724921;19828693;19898482;19934338;19934926;19948216;19949912;19950554;20028874;20197042;20223987;20228801;20360610;20361013;20388851;20516612;20571968;20602165;20614133;20679435;20837138;20861311;20948320;21139048;21166698;21205836;21264258;21408136;21500549;21516087;21538645;21575519;21666714;21686326;21726568;21737611;2174105;21832049;21873938;21890473;21906983;21935409;21955398;21963094;21987572;21988832;22001757;22009484;22086185;22184117;22236865;22256737;22261062;22332920;22362770;22412971;22509030;22570727;22635007;22939624;22939629;23000965;23037715;23209418;23238013;23298804;23315987;23318428;23588386;23629968;23661698;23686814;23752181;23874206;23951165;23976972;24014202;24064975;24141256;24285539;24457997;24503792;24607842;24713656;24717580;24797263;24825902;24899181;24940039;7536959;7543898;7890684;7918100;7973638;7982920;8183555;8755474;9119409;9245480;9267020;9530499;9576626 1969 P29317;Q96HF4 ABBA01004679;ABBA01004680;AI302504;AK296788;AL451042;AMYH02000379;AY052403;BC008655;BC037166;CB991812;CH471167;CS026995;CS542490;EU826606;GM868963;GM879993;HH976540;M59371;NG_021396;NM_004431;XM_005245751;XM_005245752 AAA53375;AAH08655;AAH37166;AAL11019;ABM86157;ABW03777;ACF47642;BAG59366;CAI61887;CAM91182;CAT16927;CAV28316;CBX51742;EAW51769;EAW51770;NP_004422;P29317;XP_005245808;XP_005245809 Hs.171596 1795778;2161919 EPHA2_31;RH17703 ARCC2;CTPA;CTPP1;CTRCT6;ECK OTTHUMP00000011117;ephrin type-A receptor 2;epithelial cell receptor protein tyrosine kinase;soluble EPHA2 variant 1;tyrosine-protein kinase receptor ECK APPROVED protein-coding ENSG00000142627 HGNC:3386 01494 116600;176946 REVIEWED 1350663 EPHA8 EPH receptor A8 This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008] 1 1 1 p36.12 21213404 21254789 + 22890004 22930087 + 22563511 22603594 + 1299522;1580863;6480464;6484113;8554872 1648701 10207129;10498895;10515610;10730216;10819331;11128993;11256076;11416136;12477932;12681484;14986683;15194108;15271258;15782114;16710414;19240061;20029409;20100865;21900206;21988832;22291991;9053851;9214628;9267020;9361271;9530499;9568399;9576626 2046 P29322 AB040892;ABBA01059848;ABBA01059849;ABBA01059850;AL035703;AMYH02000478;BC038796;BC072417;CH471134;GM868971;KF495893;NM_001006943;NM_020526;X59291 AAH38796;AAH72417;AAI41437;BAA95983;CAA41980;CAT16941;EAW95013;NP_001006944;NP_065387;P29322 Hs.283613 1334953;1757231;1795782;7183855 D1S512;EPHA8_610;SHGC-144654 EEK;EK3;HEK3;KIAA1459 EPH- and ELK-related kinase;EPH- and ELK-related tyrosine kinase;EPH-like kinase 3;OTTHUMP00000002934;OTTHUMP00000002935;ephrin type-A receptor 8;hydroxyaryl-protein kinase;protein-tyrosine kinase;tyrosine-protein kinase receptor EEK;tyrosylprotein kinase APPROVED protein-coding ENSG00000070886 HGNC:3391 01493 176945 REVIEWED 1345605 EPHA4 EPH receptor A4 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008] 2 2 2 q36.1 216050899 216205191 - 222282747 222437010 - 221418027 221572290 - 1580863;5688752;5688783;6218956;5688750;5688763;5688771;5688765;5688764;5688772;5688782;6480464;6484113;8554872 10336070;15537875;16959251;17418490;17970742;19542617;20170651;21736568;21931787;22318127 10207129;10366629;10607706;10730216;11085874;11128993;11256076;11336673;12084815;12383247;12477932;12496762;12761826;12775584;14576067;15313894;15489334;15688035;15994237;16365308;16540516;16574431;16965393;17143272;17847007;18628988;18695888;18790757;18837080;19949912;20098747;20100581;20678482;21186356;21444754;21873938;21875946;21890473;21935409;21942715;22273509;22807579;22922411;22939624;23000965;23429488;23776197;23959867;7898931;8125298;8622893;8755474;8889548;9267020;9345045;9484836;9530499;9576626;9632142 2043 C9JEM6;C9JFX5;C9JIX8;E9PG71;F5GZZ5;F8WBU0;H7C1N8;H7C2W7;P54764;Q58F15 AA987900;ABBA01023821;ABBA01023822;ABBA01023823;AC010899;AC079834;AF075040;AK225181;AK290306;AK300772;AK312380;AL603465;AMYH02005849;AMYH02005850;AMYH02005851;AMYH02005852;BC016981;BC026327;BC105000;BC105002;BM676153;BM679073;BM680394;BM712812;BM724253;BQ009361;CH471063;CS163790;GM868967;JA885909;JA886343;JA886777;JA887211;JB234908;JB243608;JB254223;JB257196;JB264117;JB276737;JB311548;JB313838;JB318832;JB359897;JB819632;JB820066;L36645;NM_004438;XM_005246374 AAA74246;AAH26327;AAI05001;AAI05003;AAX81994;AAY24283;AAY24284;BAF82995;BAG35298;BAH13344;CAJ32200;CAT16933;CCQ77687;CCQ77696;CCQ77705;CCQ77714;CDH48193;CDH61615;CDH61669;CDH61688;CDH88986;CDH92524;CDH92538;CDH92549;CDH92796;CDH92893;CDI44668;CDI44677;EAW70785;EAW70786;NP_004429;P54764;XP_005246431 Hs.371218 1658898;1663517;1676636;1703264;1797502;1850603;2113562;2128325;2161537;2173891;2220542 A004S26;EPHA4_1970;MARC_49122-49123:1117732036:1;RH12531;RH46518;RH70277;RH78262;RH93447;SHGC-24374;STS-T47772;UniSTS:484284 EK8;HEK8;SEK;TYRO1 EPH-like kinase 8;OTTHUMP00000164185;OTTHUMP00000204491;TYRO1 protein tyrosine kinase;ephrin type-A receptor 4;receptor protein-tyrosine kinase HEK8;tyrosine-protein kinase TYRO1;tyrosine-protein kinase receptor SEK APPROVED protein-coding ENSG00000116106 HGNC:3388 03719 602188 REVIEWED 1605546 EPHA6 EPH receptor A6 ENCODES a protein that exhibits ATP binding (inferred); ephrin receptor activity (inferred); protein kinase activity (inferred); INVOLVED IN ephrin receptor signaling pathway (inferred); peptidyl-tyrosine phosphorylation (inferred); protein phosphorylation (inferred); PARTICIPATES IN ephrin - ephrin receptor bidirectional signaling axis; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH copper(2+) sulfate; valproic acid; (+)-pilocarpine (ortholog) 3 3 3 q11.2 94916109 95857365 + 96533425 97467786 + 96814581 97749439 + 6484113;6480464;8554872 10607706;10730216;11128993;12084815;12471243;12477932;12975309;14702039;14726470;14986683;15194108;15271258;16344560;16641997;19850283;20011078;20379614;20950786;21987572;23251661;23720494;8755474 285220 B3KS12;B4DXM2;B4DXQ6;E7EU71;H0Y8K5;H0Y9V0;J3KR66;Q6UWM0;Q9UF33 ABBA01026940;ABBA01026941;ABBA01026942;ABBA01026943;ABBA01026944;AC107482;AC108714;AC109782;AC110717;AC117439;AC117470;AC119745;AC130510;AC134730;AC135369;AK092565;AK302040;AK302080;AK310249;AL133666;AMYH02007279;AMYH02007280;AMYH02007281;AMYH02007282;AMYH02007283;AMYH02007284;AY358738;BC031881;BC067287;BX099374;CH471052;DA385338;DC398430;DN991634;DR731365;DV080244;HC006940;KF457663;NM_001080448;NM_001278300;NM_001278301;NM_173655;XM_006713592;XM_006713593;XM_006713594 AAI56734;AAQ89098;BAG52574;BAG63434;BAG63468;CAB63775;CBH19275;EAW79885;NP_001073917;NP_001265229;NP_001265230;NP_775926;Q9UF33;XP_006713655;XP_006713656;XP_006713657 Hs.653244 1710474;1710492;1711106;1715543;1725041;1750769;1753699;1762769;2139988 RH118817;RH120914;SHGC-102341;SHGC-107627;SHGC-12079;SHGC-146553;SHGC-86196;SHGC-86254;SHGC-86263 DKFZp434C1418;EHK-2;EHK2;EK12;EPA6;FLJ35246;HEK12;PRO57066 EPH homology kinase 2;EPH-like kinase 12;OTTHUMP00000214353;OTTHUMP00000217552;OTTHUMP00000217916;OTTHUMP00000217917;ephrin receptor EphA6;ephrin type-A receptor 6 protein-coding ENSG00000080224 HGNC:19296 600066 VALIDATED 1605127 EPHA5 EPH receptor A5 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] 4 4 4 q13.1 63644911 63993769 - 66185281 66536529 - 65319563 65670811 - 6480464;6484113;8554872 10064801;10207129;10375373;10516308;10531456;10607706;10730216;11076863;11128993;11230166;11256076;12477932;15485908;15489336;16381901;16737551;19733895;19949912;19953087;20379614;20596523;22079638;22174851;23824631;24029132;24086308;7528718;7898931;7973638;8755474;9191074;9267020;9321686;9321687;9530499;9576626 2044 B7ZKJ3;B7ZKW7;F8VP57;F8W9W0;P54756;Q59FT4 AB209375;ABBA01022877;ABBA01022878;ABBA01022879;AC018683;AC104137;AC105923;AC115223;AK307826;AMYH02009351;AMYH02009352;BC136257;BC136258;BC143427;BX537946;CH471057;L36644;NM_001281765;NM_001281766;NM_001281767;NM_004439;NM_182472;XM_005265653 AAA74245;AAI36258;AAI36259;AAI43428;BAD92612;CAD97914;CAL37927;CAL38365;EAX05536;EAX05537;EAX05538;EAX05539;NP_001268694;NP_001268695;NP_001268696;NP_004430;NP_872272;P54756;XP_005265710 Hs.654492 1334522;1645553;1647286;1656776;1724839;1850811;1851360;1852339;1852341;2155862;2156127;2171649;5022020;7185414 D4S1574;D4S2683;D4S3280;EPHA5;RH119182;RH45566;SHGC-13970;SHGC-50222;SHGC-67256;SHGC-8247;SHGC4-1516;STS-N22219;STS-N25770 CEK7;EHK-1;EHK1;EK7;HEK7;TYRO4 EPH homology kinase 1;EPH-like kinase 7;Eph homology kinase-1;OTTHUMP00000159594;OTTHUMP00000159595;OTTHUMP00000218917;OTTHUMP00000223029;brain-specific kinase;ephrin type-A receptor 5;receptor protein-tyrosine kinase HEK7;tyrosine-protein kinase receptor EHK-1 APPROVED protein-coding ENSG00000145242 HGNC:3389 02474 600004 REVIEWED 1353347 EPHB1 EPH receptor B1 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008] 3 3 3 q21-q23 132940535 133405242 + 134514099 134979309 + 134795257 135260467 + 1580863;6480464;6484113;8554872 10066262;10207129;10669731;10730216;11128993;11140838;11256076;11713248;12084815;12118063;12223469;12477932;12925710;14576067;14702039;15107421;15340161;15722342;15951569;16344560;18034775;18057206;18424888;18593464;18628988;18649358;18931529;19736353;19786833;20379614;20395553;21041834;21085126;21124932;21763378;21804545;21987572;22589738;22939624;23118026;24121831;24427352;7689724;7973638;8070404;8559144;8666391;8755474;8798570;8889548;9245480;9267020;9430661;9499402;9530499;9576626;9736245 2047 C9J466;C9J6S4;C9JB88;C9K090;F8WDG5;P54762 ABBA01059142;ABBA01059143;ABBA01059144;ABBA01059145;ABBA01059146;ABBA01059147;ABBA01059148;ABBA01059149;ABBA01059150;ABBA01059151;AC016931;AC016951;AC063918;AC073244;AC092969;AF037333;AF037334;AK095305;AK291208;AK309741;AMYH02007724;AMYH02007725;AMYH02007726;AMYH02007727;AMYH02007728;AW207121;BC111744;BM665724;CH471052;DA107464;EU826607;GM868973;JA738603;L40636;NM_004441 AAB08520;AAB94627;AAB94628;AAI11745;ACF47643;BAF83897;BAG53024;CAT16944;CCF76954;EAW79127;EAW79128;EAW79129;NP_004432;P54762 Hs.116092 1335647;1336175;1338114;1651239;1658949;1682836;1704350;1725199;1746981;1752321;1764715;1784642;1795784;2136644;2139302;2187389 D3S1590;D3S3641;D3S3696;EPHB1_198;G09350;G09515;G19166;G64902;RH118892;RH65591;SHGC-106261;SHGC-132302;SHGC-148306;SHGC-1723;SHGC-78165;WI-16892 EK6;ELK;EPHT2;FLJ37986;Hek6;NET EPH-like kinase 6;OTTHUMP00000216707;OTTHUMP00000216708;eph tyrosine kinase 2;ephrin type-B receptor 1;neuronally-expressed EPH-related tyrosine kinase;soluble EPHB1 variant 1;tyrosine-protein kinase receptor EPH-2 APPROVED protein-coding ENSG00000154928 HGNC:3392 02790 600600 REVIEWED 1605126 EPHB2 EPH receptor B2 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008] 1 1 1 p36.1-p35 21361651 21563983 + 23037263 23241823 + 22710770 22915330 + 6480464;6484113;7240710;8554872 10053012;10207129;10330152;10480933;10508479;10523848;10537323;10542222;10570155;10572014;10644995;10648599;10730216;10839360;11042694;11128993;11256076;11494128;11580899;11585923;11641781;11754835;11780069;11799243;11940661;11956217;12039842;12058067;12063024;12136247;12297313;12389031;12477932;12546821;12972619;14968112;15107857;15126357;15225643;15300251;15718372;15722342;15821731;15848800;15951569;15973414;16155194;16166419;16272170;16298995;1648701;16582626;16710414;16740153;16819508;16840724;17192257;17234965;17255949;17295683;17318185;17428795;17443671;17655843;18628988;18682749;18695888;18713744;18797457;18957513;19366806;19454503;19597185;19661068;19913121;19962662;20046096;20233847;20339854;20628086;20634891;20838624;21139048;21161727;21292437;21387540;21503576;21603658;21737611;21809346;21987572;22010211;22233626;22310282;22374425;22610405;22723427;23000965;23383108;23413357;23711177;23835497;23887168;24211352;24222164;24439224;24803541;7601466;7688222;7816602;7898931;8033077;8589679;8755474;8798570;8878483;9233798;9267020;9499402;9530499;9576626;9632142;9696046;9707552;9883737;9933164 2048 B1AKC9;P29323;Q6NVW1 AB210018;ABBA01059858;ABBA01059859;AF025304;AK298898;AK299701;AL035704;AL158086;AL512444;AL530874;AL611946;AMYH02000479;AMYH02000480;AMYH02000481;AX671066;BC007903;BC018763;BC041017;BC067861;BQ641281;CH471134;D14717;D31661;D37827;GM868975;HM437237;L36643;L41939;NG_011804;NM_004442;NM_017449;X59292;XM_006710441;XM_006710442 AAA74244;AAA99310;AAB94602;AAH67861;AAI46297;ADN43068;BAA03537;BAA06506;BAA07073;BAE06100;BAG61009;BAG61602;CAA41981;CAD83767;CAT16948;EAW95022;EAW95023;EAW95024;EAW95025;EAW95026;NP_004433;NP_059145;P29323;XP_006710504;XP_006710505 Hs.523329 CAPB;DRT;EK5;EPHT3;ERK;Hek5;MGC87492;PCBC;Tyro5 EPH-like kinase 5;OTTHUMP00000002914;OTTHUMP00000002915;OTTHUMP00000002916;OTTHUMP00000002917;developmentally-regulated Eph-related tyrosine kinase;elk-related tyrosine kinase;eph tyrosine kinase 3;ephrin type-B receptor 2;protein-tyrosine kinase HEK5;renal carcinoma antigen NY-REN-47;tyrosine-protein kinase TYRO5;tyrosine-protein kinase receptor EPH-3 2292800 PRSTS10_H APPROVED protein-coding ENSG00000133216 HGNC:3393 02997 600997;603688 REVIEWED 1318921 EPHX4 epoxide hydrolase 4 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH fonofos; parathion; terbufos 1 1 1 p22.1 90741979 90775554 + 92495533 92529093 + 92029976 92063536 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;17207965;20237496;20723587;22798687 253152 Q8IUS5 ABBA01045554;AC104836;AC114486;AK074822;AMYH02001476;BC041475;CH471097;DB475492;NM_173567 AAH41475;ADQ33117;BAC11230;EAW73105;NP_775838;Q8IUS5 Hs.201555 1339896 D1S188 ABHD7;EH4;EPHXRP;FLJ90341 OTTHUMP00000011814;abhydrolase domain containing 7;abhydrolase domain-containing protein 7;epoxide hydrolase-related protein protein-coding ENSG00000172031 HGNC:23758 12408 VALIDATED 731054 EPHX2 epoxide hydrolase 2, cytoplasmic This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 8 8 8 p21 26308750 26362585 + 27348519 27402439 + 27491002 27544922 + 1580978;1580979;1580981;1580982;1580985;1580986;1580863;1300048;5688730;5688726;5688731;5688391;5688354;5688356;5688357;5688358;5688359;5688360;6480464;5688362;5688727;5688387;5688389;5688733;5688363;5688386;5688390;5688728;6907045;7240710;8554872;8699517 11692079;14732757;16115816;16157792;16202848;16306811;16545818;16595607;16962614;17728042;18086949;18323494;19154430;19226702;19471280;19553349;19716829;20065888;20224052;20694143;21075124;21720266;21832210;22007192;22051199 10862610;12107410;12477932;12574508;12574510;1349227;1423213;14634838;14673705;14702039;15096040;15196990;15489334;15845398;16169070;16314446;16322563;16414022;16957870;17460077;17495027;17498780;17919073;18029348;18078836;1809223;18216721;18319271;18510611;18513744;18537101;18589104;18632753;18636124;18676680;18775727;18784359;18818748;18974052;19019335;19056867;19074885;19170196;19343046;19420105;19527514;19575027;19578796;19625176;19692168;19704161;19814804;19913121;19940276;20140262;20178365;20237496;20379614;20485444;20628086;20819778;20888937;21044950;21098312;21281786;21429967;21642892;21704394;21988832;22336502;22354938;22387545;22505724;22739108;22986331;23011468;23152298;23160182;23259602;2329521;23362272;23576437;23711456;2995393;3222228;6185139;6667124;7840649;7868134;8224376;8342951;8619856 2053 E5RFH6;E5RFU2;E5RI53;H0YAW7;P34913 ABBA01005588;AF233334;AF233335;AF233336;AF311103;AK094393;AK096089;AK096770;AK294065;AK303904;AK308041;AK310507;AMYH02017672;BC007708;BC011628;BC013874;BQ272362;BT006885;BX103698;CA397329;CH471080;DC331720;EU584434;L05779;NG_012064;NM_001256482;NM_001256483;NM_001256484;NM_001979;X97024 AAA02756;AAG14966;AAG14967;AAG14968;AAH07708;AAH11628;AAH13874;AAP35531;ABM83675;ABM86963;ACD11487;BAG53210;BAG53362;BAG57410;BAG64834;CAA65751;EAW63547;EAW63548;EAW63549;EAW63550;EAW63551;NP_001243411;NP_001243412;NP_001243413;NP_001970;P34913 Hs.212088 1340147;1709210;1739357;2119586;2146180;2159433;7189467 D8S131;D8S1569E;D8S1839;SHGC-35790;SHGC-85787;STS-AA011480;STS-L05779 CEH;SEH OTTHUMP00000128312;OTTHUMP00000225243;OTTHUMP00000225244;OTTHUMP00000225245;OTTHUMP00000225246;bifunctional epoxide hydrolase 2;cytosolic epoxide hydrolase;epoxide hydratase;epoxide hydrolase 2;epoxide hydrolase 2, cytosolic;epoxide hydrolase, soluble;soluble epoxide hydrolase APPROVED protein-coding ENSG00000120915 HGNC:3402 00582 132811;143890 REVIEWED 1313727 EPHB3 EPH receptor B3 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010] 3 3 3 q27.1 182727556 182748228 + 184279587 184300196 + 184561799 184582408 + 1580863;6480464;6484113;8554872 10207129;10730216;11128993;11256076;11956217;12477932;15489334;15536074;15951569;18978678;19483190;19607727;20634891;21106840;21266352;21804545;21987572;21988832;22039307;22087225;22314363;24707046;8397371;8798744;9267020;9484836;9530499;9576626;9674711;9707552;9751130;9990854 2049 P54753 ABBA01058435;AC112643;AMYH02008311;BC052968;CB993133;CH471052;GM868977;NM_004443;X75208 AAH52968;CAA53021;CAT16951;EAW78236;EAW78237;NP_004434;P54753 Hs.2913 1334919;1758671;1764851;1769015;1795788;1848615;2115206 D3S3583;D3S4004;EPHB3_445;G15957;RH70256;SHGC-148412;SHGC-149120 EK2;ETK2;HEK2;TYRO6 EPH-like kinase 2;EPH-like tyrosine kinase 2;EPH-like tyrosine kinase-2;OTTHUMP00000210455;embryonic kinase 2;ephrin type-B receptor 3;human embryo kinase 2;tyrosine-protein kinase TYRO6 APPROVED protein-coding ENSG00000182580 HGNC:3394 03502 601839 REVIEWED 736560 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008] 1 1 1 q42.1 199188853 199224327 + 225997797 226033264 + 225810095 225845563 + 1601064;1601063;1601065;1601066;1580863;1300048;4889123;4889120;4889407;4889121;4889122;4889126;4889405;4889406;4140935;4889408;4889124;4889125;5688360;6480464;5688388;5688356;5490167;5688354;5688357;5688732;5688359;5688358;5688390;5490249;2315930;6907045;7240710;8699517;8554872 10720475;10853854;11283205;11406608;11692079;12579334;12878321;14593914;15838728;16630050;16697254;17022435;17159790;17273734;17564249;17711870;18614560;18811882;19154430;19252927;19471280;19716829;20224052;20525719;20932192;21075124;22051199;9288046 10066160;10828267;10965908;11058921;11124296;11191882;11255266;11375900;11440964;11471167;11480169;11489754;11520401;11535253;11551408;11597790;11751440;11758809;11809533;11813302;11849215;11859435;11940289;11967624;12029283;12085365;12121132;12141066;12160895;12173035;12234472;12359356;12376511;12397416;12419832;12477932;12491039;12496064;12552594;12605384;12631667;12670526;12717779;12747973;12760253;12798882;12854128;12915882;12935919;14634838;14642084;14669306;14681495;14719475;14751678;14984931;14988221;15036125;15061915;15138035;15150264;15199549;15256148;15280903;15298956;15352038;15355699;15465926;15466980;15488121;15489334;15531751;15535985;15536330;15582499;15618730;15640066;15640939;15654505;15668489;15692831;15702235;15714076;15716486;15719050;15734960;15746160;15774926;15817713;15894702;15900282;15901990;15924351;15928955;15938845;16005144;16006997;16029924;16039674;16043197;16125881;16147638;16201204;16357600;16369102;16456143;16535827;16538176;16585076;16598069;16614101;16614120;16710414;16926176;16985026;17035385;17048007;17078101;17082176;17164366;17167268;17203192;17212663;17255364;17363767;17365145;17380322;17412371;17416769;17416773;17449559;17498780;17526865;17532303;17548684;17548691;17588204;17590289;17608547;17611777;17686149;17690329;17695473;17767854;17885617;17896209;17908297;17996038;18093316;18200441;18258609;18298806;18383527;18394656;18406439;18423013;18461673;18495522;18510611;18513744;18550614;18569587;18571762;18619701;18632753;18636124;18642288;18676680;18680736;18768509;18784359;18816171;18818748;18836923;18978678;18990750;18992148;18992263;19012698;19017876;19019335;19064572;19074885;19111454;19131562;19162321;19170196;19177501;19181923;19287329;19307236;19330589;19336370;19339270;19343046;19364907;19415745;19479063;19527514;19528831;19575027;19589345;19593802;19620853;19625176;19657367;19692168;19736056;19751749;19754350;19789190;19794411;19898482;19913121;19933216;19952982;19956635;19958090;20091863;20095411;20140262;20200332;20233420;20375710;20379614;20403997;20437850;20453000;20461808;20516053;20568895;20602612;20628086;20634891;20637790;20659238;20689807;20716240;20731606;20842355;20847076;20878130;20886582;20935060;20951227;21044285;21057703;21110914;21139048;21183608;21192345;21228414;21228703;21228718;21254355;21302624;21309732;21445251;21453055;21480392;21593757;21598178;21649467;21651746;21734345;21841461;21883387;21890473;21906983;21983886;22053931;22103900;22118311;22156006;22188362;22257321;22352736;22447130;22524818;22555758;22664944;22788361;22928041;22939629;22986331;22994552;23000965;23055191;23378225;23451147;23564882;23580125;23651475;23681797;23797950;23928928;23949201;23955801;24125961;24222229;24250222;24315822;24457600;24861996;2758034;2864485;2891713;3502697;7516776;7835893;7892276;7920694;9255563;9925921 2052 B1AQP8;B1AQP9;P07099;R4SBI6 ABBA01009662;AC099066;AF253417;AF276626;AF276627;AF276628;AF276629;AF276630;AF276631;AF276632;AF276633;AF276634;AF276635;AF276636;AF276637;AF276638;AK313436;AL591895;AMYH02002795;AMYH02002796;AMYH02002797;AY948961;BC003567;BC008291;BC095430;BJ994650;BU541640;CH471098;CR541963;HY180507;J03518;KF032815;KF510720;L25878;L25879;M36374;NG_009776;NM_000120;NM_001136018;NM_001291163;U06661;U34722;X07936;X15459;Y00424 AAA52389;AAA52390;AAA59580;AAA61305;AAB60649;AAC41694;AAF87726;AAF87727;AAF87728;AAF87729;AAF87730;AAF87731;AAF87732;AAF87733;AAF87734;AAF87735;AAF87736;AAF87737;AAF87738;AAH03567;AAH08291;AAH95430;AAX81410;ABM83432;ABM86646;AGL94507;BAG36227;CAA30759;CAA68486;CAG46761;EAW69754;EAW69755;EAW69756;EAW69757;NP_000111;NP_001129490;NP_001278092;P07099 Hs.89649 1675989;1788282;1852365;2114463;2126291;2130092;2133055;2152756;5023666 Ephx1;RH64688;RH80101;SHGC-76439;SHGC-76443;SHGC-76452;STS-R42498;STS-X07936;UniSTS:142997 EPHX;EPOX;HYL1;MEH OTTHUMP00000035867;epoxide hydratase;epoxide hydrolase 1 APPROVED protein-coding ENSG00000143819 HGNC:3401 00581 132810;189800;607748 REVIEWED 1322182 EPM2AIP1 EPM2A (laforin) interacting protein 1 The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008] 3 3 3 p22.1 36970125 36977560 - 37027357 37034795 - 36985866 36993304 - 1580863;6480464;8554872 12477932;12692553;12782127;12958597;14702039;15489334;18095154;21139048;21206982;21890473;21987572;23000965;23455922;9872452 9852 Q7L775 AB018309;ABBA01024860;AC011816;AF059751;AF086312;AK002069;AMYH02006552;AY178832;BC012624;BC041957;BC064696;CH471055;NG_008418;NM_014805 AAG43120;AAH64696;AAO21376;ADZ15647;BAA34486;EAW64482;NP_055620;Q7L775 Hs.28020 1647231;1648205;1651725;1679742;1788326;1791294;1792302;1792304;1792306;1792308;1792310;1792312;1793564;1793566;1793568;2131927 G67469;PMC100312P1;PMC140684P3;PMC140684P4;PMC140684P5;PMC140684P6;PMC140684P7;PMC140684P8;PMC23037P1;PMC23037P2;PMC23037P3;RH78369;RH91326;SHGC-37166;SHGC-76812;WI-14054 FLJ11207;KIAA0766 EPM2A interacting protein 1;EPM2A-interacting protein 1;laforin-interacting protein APPROVED protein-coding ENSG00000178567 HGNC:19735 07445 607911 REVIEWED 1316262 EPHX3 epoxide hydrolase 3 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; valproic acid 19 19 19 p13.12 15233387 15239517 - 15337730 15343858 - 15226919 15233428 - 1580863;6480464 12477932;14702039;15203218;15489334;16344560;17437806;20723587;22798687 79852 M0QX48;Q9H6B9 ABBA01051106;AC004257;AK026061;AMYH02035645;AMYH02035646;BC115002;BC132958;BC132960;CD632298;CH471106;DA378406;NM_001142886;NM_024794;XM_006722900 AAI15003;AAI32959;AAI32961;BAB15342;EAW84467;EAW84468;NP_001136358;NP_079070;Q9H6B9;XP_006722963 Hs.156457 ABHD9;EH3;FLJ22408;MGC131519 abhydrolase domain containing 9;abhydrolase domain-containing protein 9 protein-coding ENSG00000105131 HGNC:23760 12410 VALIDATED 1351510 EPN2 epsin 2 This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region and the cell periphery. The protein is thought to be involved in clathrin-mediated endocytosis. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16598294 16653109 + 19140690 19240028 + 19237377 19336715 + 708327;1580863;6480464;6907045;8554872 10567358 10470851;12353027;12477932;12750376;14702039;15231748;15324660;15345747;16344560;17081983;18199683;19285159;20379614;21139048;21163940;21890473;21906983;21963094;22174317;22558309;23000965;9303539;9813051 22905 E9PBC1;F6PQP6;I3L2B2;I3L2H1;I3L356;J3KSA6;J3KSC7;J3KSF8;J3KSR0;J3KTF6;J3QKL8;J3QLN2;J3QQJ8;O95208 AB028988;ABBA01054611;ABBA01054612;ABBA01054613;AC106017;AC124066;AF062084;AF062085;AK001491;AK001996;AK024115;AK092366;AK295652;AK298006;AK307455;AMYH02033162;AMYH02033163;AMYH02033164;AMYH02033165;BC015488;BC051793;BC070036;BC093972;BC093974;BC143263;BC143264;CH471212;DA220261;DC316524;NM_001102664;NM_014964;NM_148921;XM_005256539;XM_006721475;XM_006721476 AAC78608;AAC78609;AAH70036;AAH93972;AAH93974;AAI43265;BAA83017;BAB14831;BAG50925;BAG51000;BAG52540;BAH12141;BAH12703;EAW50875;EAW50876;EAW50877;NP_001096134;NP_055779;NP_683723;O95208;XP_005256596;XP_006721538;XP_006721539 Hs.743983 1675840;2108759;2165478;2176567 D17S1768;EPN2__7600;RH76524;STS-W72824 EHB21;KIAA1065 EPS-15-interacting protein 2;Eps15 binding protein;OTTHUMP00000065808;OTTHUMP00000065809;OTTHUMP00000065810;OTTHUMP00000065811;OTTHUMP00000065889;epsin-2 APPROVED protein-coding ENSG00000072134 HGNC:18639 06271 607263 REVIEWED 1314623 EPHB6 EPH receptor B6 This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 7 7 7 q33-q35 137390094 137406149 + 142552776 142568847 + 142855014 142871093 + 1580863;6480464;8554872 10207129;10648835;10730216;10831073;10984508;11128993;11256076;11466354;11713248;12393850;12477932;12517763;12690205;12853948;14612926;15146197;15340161;15955811;16147992;16169070;16364251;18425388;18754880;18819711;19234485;19513565;20086179;20181626;20371680;20952760;21351276;21455264;21737611;21811619;21935409;22039307;22223652;22939624;23226491;24447338;8889548;9207182;9267020;9530499;9576626;9707552 2051 F8WCM8;J3KQU5;O15197 ABBA01034129;ABBA01034130;AC104597;AC239618;AC245427;AF107256;AL832533;AY280502;BC015495;BC047892;BC051028;BC056159;BC110606;BC110607;BM665491;BX410199;BX414750;CH236959;CH471198;CN283348;D83492;EU054308;HY096414;NM_001280794;NM_001280795;NM_004445;NR_104001;XM_006715881;XM_006715882 AAD03058;AAI10607;AAI10608;AAP20939;ABV55388;BAA21560;EAL23775;EAW51900;EAW51901;EAW51902;EAW51903;NP_001267723;NP_001267724;NP_004436;O15197;XP_006715944;XP_006715945 Hs.380089 1713201;1767279;2121313;2136893 IB201;RH120388;RH71266;SHGC-52550 HEP;MGC129910;MGC129911 OTTHUMP00000208518;ephrin type-B receptor 6;human kinase-defective Eph-family receptor protein;tyrosine-protein kinase-defective receptor EPH-6 APPROVED protein-coding ENSG00000106123 HGNC:3396 04133 602757 REVIEWED 1315016 EPN3 epsin 3 ENCODES a protein that exhibits EH domain binding (inferred); lipid binding (inferred); PARTICIPATES IN endocytosis pathway; FOUND IN clathrin-coated vesicle; extracellular vesicular exosome; extrinsic component of plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 17 17 17 q21.33 45071411 45082475 + 48610043 48621111 + 50532687 50543750 + 1580863;6480464;6907045 10951261;11359770;12477932;14702039;15231748;15489334;16344560;19056867;21115825;21890473;21906983;24250222;8889548 55040 B4DIQ9;B4DUG9;D6R907;D6RBA4;D6RBI9;D6RBR6;D6REL6;D6RF39;D6RFG3;F6QWW5;I6L9I8;Q9H201 ABBA01041240;AC021491;AF324241;AK000785;AK291658;AK292977;AK295730;AK296346;AK300642;AMYH02033595;BC001038;BC051365;BC077722;BC110602;BC110605;BM981734;BU539570;CA944655;CH471109;DA392550;DC388544;NM_017957 AAG45223;AAI10603;AAI10606;BAA91378;BAF84347;BAF85666;BAG58571;BAG59030;BAG62331;EAW94606;EAW94607;NP_060427;Q9H201 Hs.670090 1700514;1750977 RH103878;SHGC-104919 FLJ20778;MGC129899 EPS-15-interacting protein 3;OTTHUMP00000221407;OTTHUMP00000221409;OTTHUMP00000221412;epsin-3 protein-coding ENSG00000049283 HGNC:18235 06272 607264 VALIDATED 6481363 EPN2-AS1 EPN2 antisense RNA 1 17 17 19199909 19209574 - 19296596 19306261 - 10737800;12477932 100874018 ABBA01054612;AC124066;AMYH02033164;BC037786;BG705989;CV325757;HG508769;NR_048576 Hs.621672 AC107982.5 APPROVED ncrna ENSG00000235397 HGNC:40849 VALIDATED 6481022 EPN2-IT1 EPN2 intronic transcript 1 (non-protein coding) 17 17 19174706 19177701 + 19271393 19274388 + 100874309 ABBA01054612;AC106017;AMYH02033163;NR_046824 Hs.733657 ncrna HGNC:41445 PREDICTED 736258 EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 6 6 6 q24 146686800 146797348 - 145946440 146057128 - 145625304 145737216 - 1299634;1580863;6480464;7240710;8554872;8699517 12958597 11001928;11175283;11220751;11735300;11739371;11883934;12019207;12477932;12560877;12782127;12915448;14532330;14643920;14702039;14706656;14722920;15009235;15489334;15930137;16115820;16901901;16959610;16971387;17337485;17509003;17646401;17908927;18029386;18070875;18311786;18617530;19036738;19171932;19267391;19403557;19529779;20301563;20453062;20534808;20738377;21371719;21505799;21652633;21728993;21887368;21930129;22036712;22047982;22364389;22578008;22815132;23313408;23624058;23904258;23922729;7485240;9222970;9345091;9771710;9931343 7957 B3EWF7;H0Y6I8;H0Y7S8;O95278 ABBA01025726;ABBA01025727;AF084535;AF284580;AF454491;AF454492;AF454493;AF454494;AJ130763;AJ130764;AK022721;AK299497;AL023806;AL365193;AMYH02014650;AMYH02014651;AMYH02014652;AW291546;BC005286;BC070047;BI463677;CH471051;HG499755;KF458313;KF458315;NG_012832;NM_001018041;NM_005670;XM_006715564;XM_006715565 AAC83347;AAG18377;AAH05286;AAH70047;AAO15523;AAO15524;AAO15525;AAO15526;B3EWF7;BAG51107;BAG61454;CAA10199;CAA10200;EAW47842;EAW47843;EAW47844;NP_001018051;NP_005661;O95278;XP_006715627;XP_006715628 Hs.486696 1336111;1645635;1674731;1694160;1699942;1704278;1704346;1715911;1754289;1757387;5017953;5022450 136C6sp6;AL035166;D10S275;D6S1443;D6S1703;RH103579;RH122690;SHGC-132306;SHGC-144778;SHGC-78150;SHGC-83278;WI-13634 EPM2;MELF;RP3-466P17.2 LAFPTPase;OTTHUMP00000017360;OTTHUMP00000017361;epilepsy, progressive myoclonic epilepsy, type 2 gene alpha;epilepsy, progressive myoclonus type 2, Lafora disease (laforin);glucan phosphatase;lafora PTPase;laforin APPROVED protein-coding ENSG00000112425 HGNC:3413 06345 254780;607566 REVIEWED 1342807 EPN1 epsin 1 The protein encoded by this gene binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 19 19 19 q13.42 53228855 53249427 + 56186561 56207141 + 55675195 55695775 + 632727;6480464;6907045;8554872 9723620 10557078;10567358;10692452;10764745;10791968;11382783;12057195;12218189;12353027;12477932;12538641;12775724;12836669;14702039;15231748;15489334;15694383;15701692;15809337;15962011;16169070;16344560;16429130;16497222;16497223;16574660;16885233;16903783;17081983;18199683;18375383;19054389;19240029;19285159;19478092;19704019;19738201;20573067;20639865;21115825;21139048;21226813;21890473;21906983;21963094;21965661;21987572;22053931;22623428;22658936;22863883;22939629;23000965;23187125;23314748;23377640;23940030;24113870;24816145;25015289;25036637;9422736 29924 K7EMP4;Q9Y6I3 ABBA01020860;AC008735;AC010525;AF073727;AK022454;AK300545;AK314690;AMYH02036473;AX882158;BC044651;BU634413;CH471135;DA657018;NM_001130071;NM_001130072;NM_013333;XM_005258829;XM_005258830;XM_006723176;XM_006723177;XM_006723178 AAD38326;AAH44651;ADR82675;BAB14041;BAG62253;CAE91463;EAW72405;EAW72406;EAW72407;EAW72408;NP_001123543;NP_001123544;NP_037465;Q9Y6I3;XP_005258886;XP_005258887;XP_006723239;XP_006723240;XP_006723241 Hs.279953 1678451;2108623 RH92186;U2AF2_7999 EH domain-binding mitotic phosphoprotein;EPS-15-interacting protein 1;epsin-1 APPROVED protein-coding ENSG00000063245 HGNC:21604 06270 607262 REVIEWED 1353692 EPHB4 EPH receptor B4 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008] 7 7 7 q22 95130741 95155701 - 100400187 100425143 - 100802565 100827521 - 1580863;6480464;6484113;8554872 10037197;10207129;10518221;10730216;11128993;11136979;11239002;11256076;11466354;11920461;11929761;12051776;12235151;12477932;12493773;12690205;12734395;14764452;15126321;15193868;15358160;15489334;15722342;15930280;15951569;16107476;16171530;16205642;16322467;16343615;16424904;16615113;16840724;16867992;16982731;17196593;17234965;17353927;17510705;17611172;18231102;18340006;18593464;18957513;19035475;19272799;19322201;19356789;19366806;19552627;19597185;19664212;20002159;20031623;20061560;20086179;20133814;20686847;21047731;21575518;21832049;21906983;21935409;21987572;22024229;22374425;22528941;22684558;22684742;22990020;23063927;23079712;23100466;23138393;23211050;23295955;23314808;23579861;23721559;23725356;23844053;24121831;24427781;24733895;24771266;25051915;8152808;8188704;8831703;9267020;9388509;9530499;9576626;9718367 2050 P54760;Q541P7;Q96L35 AB209644;ABBA01013178;ABBA01013179;ABBA01013180;ABBA01013181;AC011895;AF312032;AK301224;AMYH02016391;AY056047;AY056048;BC004264;BC052804;CB962032;CH236956;CH471091;EU826608;EU826609;EU826610;GM868979;NM_004444;U07695 AAA20598;AAH04264;AAH52804;AAK21010;AAL14194;AAL14195;ACF47644;ACF47645;ACF47646;BAD92881;BAG62797;CAT16953;EAL23820;EAW76468;EAW76469;EAW76470;NP_004435;P54760 Hs.437008 1669978;1795790;7187491 D7S2738;EPHB4_612 HTK;MYK1;TYRO11 OTTHUMP00000211367;OTTHUMP00000211368;ephrin receptor EphB4;ephrin type-B receptor 4;hepatoma transmembrane kinase;soluble EPHB4 variant 1;soluble EPHB4 variant 2;soluble EPHB4 variant 3;tyrosine-protein kinase TYRO11;tyrosine-protein kinase receptor HTK APPROVED protein-coding ENSG00000196411 HGNC:3395 02481 600011 REVIEWED 5013870 EPPIN-WFDC6 EPPIN-WFDC6 readthrough This locus represents naturally occurring read-through transcription between the neighboring SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) and WFDC6 (WAP four-disulfide core domain 6) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] 20 20 q 44164919 44176065 - 45536280 45547426 - 6480464;8554872 20967262 100526773 O95925 AA626362;ABBA01052660;AK301937;AL031663;AMYH02037151;NM_001198986 BAG63357;CAO03536;NP_001185915 Hs.121084;Hs.274876 FLJ58958;SPINLW1-WFDC6 OTTHUMP00000220361;SPINLW1-WFDC6 fusion protein;SPINLW1-WFDC6 read-through transcript;SPINLW1-WFDC6 readthrough APPROVED protein-coding ENSG00000249139 HGNC:38825 VALIDATED 1347671 EPR1 effector cell peptidase receptor 1 (non-protein coding) This locus represents an antisense transcript of the survivin locus. [provided by RefSeq] 17 17 q25 72806350 72816811 - 76210321 76220783 - 1580863 10891443;11686347;12441269;12477932;15112339;16334252;16341674;7615156;7947793;8106347;9079657;9556606 8475 AC087645;AF086186;BC001735;BM839824;NR_002219 Hs.514527;Hs.728893 1795222 BIRC5_44 BIRC5-AS1;BIRC5AS;BIRC5OS;EPR-1;NCRNA00007 miscrna HGNC:3417 PROVISIONAL 735849 EPO erythropoietin This gene is a member of the EPO/TPO family and encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The protein is found in the plasma and regulates red cell production by promoting erythroid differentiation and initiating hemoglobin synthesis. This protein also has neuroprotective activity against a variety of potential brain injuries and antiapoptotic functions in several tissue types. [provided by RefSeq, Jul 2008] 7 7 7 q22 95048997 95051893 + 100318423 100321323 + 100720800 100723700 + 1580863;2313831;2313832;2313833;2313837;2313839;2313840;2313841;2313843;2313896;2313897;2313842;2313890;2313834;2313835;2313838;6480464;6484113;6907045;7240710;8554872 15502930;15855576;16681558;16911620;16921186;16936148;17435269;18235022;18458324;18670462;19211168;19244253;19356735;19619913;19826948 10318834;10984541;11239002;11259643;11305874;11493922;11782478;11854521;11861258;11865075;11869305;11906321;11906322;11919332;11920206;11994541;12068288;12082184;12091337;12130665;12171772;12187026;12192960;12207089;12212844;12239177;12362243;12381912;12419827;12463751;12476588;12477932;12477950;12482504;12525458;12734640;12759237;12801298;12829027;12853948;12937140;12960323;12975460;14569084;14583613;14584755;14671634;14704034;14718663;14724429;14747752;14755373;14990112;15019812;15053948;15073510;15112358;15142852;15160341;15183662;15205261;15210945;15240563;15257091;15339684;15347669;15363820;15389732;15467711;15489334;15590452;15627795;15671524;15674338;15705187;15709164;15709172;15718359;15728783;15743794;15769989;15777837;15795697;15856028;15967106;15988318;15993382;16123502;16229477;16278379;16286456;16332412;16467207;16475009;16627979;16645141;16684536;16699298;16838166;16883594;16909043;17045782;17081058;17145806;17327410;17353931;17360900;17372034;17389738;17395782;17442163;17467346;17481772;17540710;17577097;17597020;17615151;17636183;17645631;17647284;17652365;17713555;17873970;17888545;17893874;17893875;17952604;17984928;18074690;18086112;18091448;18093155;18160550;18189270;18201556;1820196;18219110;18259195;18276585;18278456;18332162;18356745;18399174;18414140;18479804;18533563;18544472;18586515;18722069;18787502;18922618;18928604;19014520;19027957;19042077;19070519;19074769;19136057;19165176;19269703;19321698;19339771;19375647;19375648;19463769;19515792;19602911;19690392;19766721;19804771;19862010;19890342;19901910;19913121;19930602;19932158;19955699;20012656;20065225;20091055;20104680;20164027;20179983;20228410;20237496;20353997;20368990;20395592;20566589;20614229;20628086;20729740;20804540;20818790;20862521;20873225;20937006;20937240;20947680;20966191;20979939;21033220;21042786;21067572;21078205;21092038;21162115;21294852;21317243;21321940;21334436;21535154;21619451;21623073;21683736;21734083;21757714;21807323;21839094;21847101;21894032;21898543;21912181;21912616;21926963;21988832;22021095;22025882;22135724;22167324;22351476;22388478;22406924;22545469;22623897;22626952;22669473;22768976;22773876;22843933;23016887;23027039;23028796;23052842;23128233;23141213;23142128;23142458;23142737;23158995;23180434;23227493;23242184;23313788;23327923;23337206;23393065;23403324;23525596;23535151;23647063;23661806;23670359;23672497;23773177;23780896;23788583;23817218;23881169;23894012;24100272;24165569;24177168;24296452;24307517;24377712;24412408;24647661;24821155;24832733;24907467;25018619;2849206;2875851;3219367;3346214;3462706;3462737;3838366;3865178;3949763;6698989;8396923;9113979;9539790;9722506;9774108;9799793;9808045;9847074 2056 B7ZKK5;G9JKG7;P01588 ABBA01013188;AC009488;AF202308;AF202311;AF202314;AMYH02016388;BC093628;BC111937;BC143225;CH471091;JN849371;KF178447;M11319;NG_021471;NM_000799;S65458;X02157;X02158 AAA52400;AAD13964;AAF17572;AAF23132;AAF23134;AAH93628;AAI11938;AAI43226;AAP22357;AEU17862;AGW15567;CAA26094;CAA26095;EAW76493;EAW76494;NP_000790;P01588 Hs.2303 1741153;1790337;2135064 EPO;GDB:178386;SHGC-12325 EP;MGC138142;MVCD2 OTTHUMP00000201234;epoetin APPROVED protein-coding ENSG00000130427 HGNC:3415 00586 133170;612623 REVIEWED 1348027 EPS15P1 epidermal growth factor receptor pathway substrate 15 pseudogene 1 INTERACTS WITH zinc atom; zinc(0) 7 7 7 p12.3 46921726 46923156 + 46821488 46823118 + 46781890 46783520 + 6480464 23251661;24035498 55380 ABBA01058264;AC073275;AMYH02015648;CH236958;CH471128;NG_008280 AAQ93366;EAW61021 EPS15L2;PRO1866 APPROVED pseudo HGNC:18166 INFERRED 1315316 EPPIN epididymal peptidase inhibitor This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. [provided by RefSeq, Nov 2010] 20 20 20 q13.12 40877785 40884548 - 44169265 44176516 - 45540626 45547426 - 1580863;6480464;8554872 11404006;11780052;12206714;12477932;12909348;15229136;15489334;15590901;17207965;17566290;17567961;17644992;17928628;18331357;18466682;18645681;19801569;19889947;20005859;20158997;20488803;20505168;20800364;21392882;21461566;22699487;24312623 57119 B7ZBA9;O95925 ABBA01052660;AF286368;AF286369;AF286370;AK126022;AK311906;AL031663;AL118493;AMYH02037151;BC003675;BC044829;BC053369;CH471077;DC395362;NM_020398 AAG00546;AAG00547;AAG00548;AAH03675;AAH44829;AAH53369;ADQ32986;BAG34847;BAG54278;CAB37635;CAB56343;EAW75831;EAW75832;NP_065131;O95925 Hs.121084 CT71;CT72;EPPIN1;EPPIN2;EPPIN3;SPINLW1;WAP7;WFDC7;dJ461P17.2 OTTHUMP00000031137;OTTHUMP00000031138;WAP four-disulfide core domain 7;WAP four-disulfide core domain protein 7;cancer/testis antigen 71;cancer/testis antigen 72;epididymal protease inhibitor;protease inhibitor WAP7;serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin);serine protease inhibitor-like with Kunitz and WAP domains 1;serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin) APPROVED protein-coding ENSG00000101448 HGNC:15932 10615 609031 REVIEWED 1345399 EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN endocytosis (inferred); epidermal growth factor receptor signaling pathway (inferred); negative regulation of epidermal growth factor receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH coumestrol; formaldehyde; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.11 16374285 16484628 - 16466055 16582823 - 16355244 16472012 - 1580863;6480464;8554872 10567358;10613896;10906484;11381094;11777906;12072436;12218189;12477932;14702039;15144186;15302935;15962011;16159959;16344560;16497223;16903783;16964243;17081983;19262564;19946888;20360068;20448150;20697350;21139048;21706016;21738480;21890473;21906983;21963094;21987572;22190364;22505724;22558309;22863883;23000965;23218918;24250222;24654937;24816145;8889548;9303539;9407958;9446614;9723620;9853615 58513 K7EJR2;M0QX30;M0QY01;M0R165;M0R1V5;M0R2S2;M0R330;M0R3I1;Q9UBC2 AB015346;ABBA01051145;ABBA01051146;ABBA01051147;AC008764;AC020917;AF110265;AK023744;AK024166;AK025770;AK291359;AK296473;AK297428;AK299001;AL110270;AMYH02035681;AMYH02035682;AMYH02035683;AMYH02035684;AU121887;BC037558;BC051873;BC067114;BC131590;BC142662;BC142716;BU075732;CA311813;CA446537;CH471106;DC416977;KF456515;NM_001258374;NM_001258375;NM_001258376;NM_021235;NR_047665;NR_047666;XM_006722823;XM_006722824;XM_006722825;XM_006722826;XM_006722827 AAF21930;AAI31591;AAI42663;AAI42717;BAA88118;BAF84048;BAG51266;BAG59115;BAG59856;BAG61087;CAH10724;EAW84542;EAW84543;EAW84544;EAW84545;NP_001245303;NP_001245304;NP_001245305;NP_067058;Q9UBC2;XP_006722886;XP_006722887;XP_006722888;XP_006722889;XP_006722890 Hs.654639;Hs.744842 1686658;2139164;2191201 MARC_16107-16108:1018030388:1;RH36023;RH47699 EPS15R epidermal growth factor receptor substrate 15-like 1;epidermal growth factor receptor substrate EPS15R;eps15-related protein protein-coding ENSG00000127527 HGNC:24634 09445 VALIDATED 736105 EPOR erythropoietin receptor This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 19 19 19 p13.3-p13.2 11382748 11389885 - 11487881 11495018 - 11377205 11384342 - 1580863;6480464;6484113;6907045;7240710;8554872 10084959;10318834;10374881;10388848;10455108;10660611;10882725;10984541;11000476;11124255;11305874;11443118;11722595;11756159;11779507;11781573;11782306;11784712;11884148;11994541;11999556;12021194;12027890;12113907;12118093;12441334;12477932;12488507;12525458;12538595;12746455;12878211;12960323;1310150;1324524;14584755;14982882;15160341;15205261;15249201;15329338;15358619;15467711;15480420;15489334;15572213;15644415;15657048;15671524;15709164;15709172;15769989;15777837;15878737;15953601;16084495;16161153;16278379;1654273;1657727;16608505;16627979;1664413;1668606;1668607;16699298;16961462;16982687;17038666;17110616;17145806;17293480;17327410;17363704;17483696;17488692;17524492;17597020;17637760;17647284;17893874;17912463;17922127;17995455;18006699;18059484;18158285;18184464;18250608;18278456;18332162;18349818;18424770;18479804;1848667;18492694;18818706;19010836;19070519;19099624;19133231;19167335;19218878;19264915;19298633;19336760;19375647;19464057;19515792;19536148;19544471;19655412;19779103;19836979;19930602;19965681;20124513;20124514;20164027;20169072;20336349;20337434;20614229;20700488;20861249;20884294;20947680;21075308;21291419;21360263;21437635;21623073;2163695;2163696;21749867;21860424;21900195;22025882;22093990;22227182;22253704;22338178;22384088;22406924;22509308;22552716;22639817;22669473;22982397;23028796;23052842;23117856;23158995;23314808;23496059;23577103;23881169;23885016;24113870;24155958;24165569;24502950;24533580;7528577;7534299;7559499;7651724;7795221;7796808;7889566;8174675;8343951;8400282;8506290;8608241;8639815;8647802;8662530;8662939;8861946;8977232;9129019;9162069;9192789;9292543;9334184;9344843;9371269;9488636;9573010;9649565;9774108;9774439;9793257;9808045;9808074;9852052;9974392 2057 K7EN47;K7EP50;K7ERB5;P19235 ABBA01029859;AC024575;AK315097;AMYH02035526;BC019092;BC112153;BC143697;BC143698;BC143700;BU619338;CH471106;M34986;M60459;M76595;M77244;NG_021395;NM_000121;NR_033663;S45332;X57282;X97671 AAA52392;AAA52393;AAA52401;AAA52403;AAB23271;AAI12154;BAG37561;CAA40550;CAA66260;EAW84205;EAW84206;EAW84207;EAW84208;NP_000112;P19235 Hs.631624 1672746;1678383;1742443;1743057;1743059;1743115;1743821;1773354;2145250 D19S1015;GDB:196998;GDB:250953;GDB:250955;GDB:266625;GDB:374131;RH17696;RH70840;RH71284 EPO-R;MGC138358 APPROVED protein-coding ENSG00000187266 HGNC:3416 00587 133100;133171 REVIEWED 1343625 EPPK1 epiplakin 1 The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013] 8 8 8 q24.3 141252725 141261566 - 144939492 144952632 - 143857319 143878464 - 1580863;6480464;8554872 11278896;11854008;12577067;12665801;12791695;14708632;15342556;15671067;16009940;16083285;16159877;16341674;16565220;17081983;17353931;17499243;19322062;19471022;21139048;21145461;21182205;21800051;21890473;21906983;21963094;21987572;22053931;22190034;22586326;22939629;23398049;23443559;23549274;24583282;8618051 83481 P58107 AB051895;AB107036;ABBA01005238;AC105049;AC109322;AC234917;AL137725;AMYH02018949;BM851776;BP313273;CH471162;CS673558;CS690941;FB665694;GM706906;NG_033825;NM_031308 BAB40803;BAC92750;CAB70895;CAP07546;CAP11514;CAR97129;CAT82413;EAW82176;NP_112598;P58107 Hs.200412;Hs.743673 1848374 D8S2104 EPIPL1 450 kDa epidermal antigen;EPIPL;epidermal autoantigen 450K;epiplakin protein-coding ENSG00000261150 HGNC:15577 06500 607553 REVIEWED 1313642 EPS15 epidermal growth factor receptor pathway substrate 15 This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009] 1 1 1 p32 50106464 50271514 - 51819935 51985026 - 51354263 51519354 - 1580863;6480464;6484113;6907045 10064583;10383425;10393179;10514494;10567358;10613896;10757979;10764745;10777571;10791968;10809762;10922467;10953014;11062555;11381094;11483962;11723124;11872741;11919637;12072436;12218189;12364336;12429846;12477932;12538641;12551915;12750381;12807910;12938929;12957285;14671106;14702039;14755250;15231748;15465819;15701692;15767409;15772161;15809337;15951569;15962011;16036216;16159959;16325581;16344560;16429130;16497222;16497223;16710414;16735510;16771824;16862145;16885233;16964243;17013377;17081983;17082820;17474147;17588522;17626015;17626244;18029348;18199683;18200045;18362181;18375383;18395097;19013454;19109251;19240029;19322201;19380743;19478092;19738201;19835873;19875440;19880507;19946888;20106972;20360068;20448150;20634891;21115825;21139048;21226813;21554242;21762413;21832070;21890473;21906983;21963094;21987572;22036096;22505724;22558309;22623428;22648170;22863883;23000965;23222715;23874206;24173214;24269888;24377927;24654937;24768539;24816145;25070368;7797522;8134107;8183552;8619474;8662627;8662907;8889548;9049247;9110174;9162018;9182572;9303539;9407139;9428629;9490719;9721102;9723620;9762922 2060 B1AUU8;B7Z240;P42566;S4R3U1 AA789139;ABBA01074801;ABBA01074802;ABBA01074803;ABBA01074804;AC104170;AF052132;AK090936;AK129853;AK294297;AK308128;AK313396;AL671986;AMYH02000998;AMYH02000999;AW949896;BC054006;BM681433;BX647676;CD657119;CH471059;DA801048;DQ367924;FB342945;FB711068;NM_001159969;NM_001981;U07707;XM_005270618;XM_006710446;Z29064;Z29070 AAA52101;AAH54006;ABD34786;BAG36194;BAG52249;BAH11726;CAA82305;CAR81473;CAS91489;EAX06822;EAX06823;EAX06824;NP_001153441;NP_001972;P42566;XP_005270675;XP_006710509 Hs.83722 1649634;1659593;1661147;1665341;1670933;1689578;1692198;1749577;1769631;1769753;1781752;1857283;2123659;2123693;2125129;2186709 A006V07;AL009788;AL033736;D1S3566;G07235;RH70977;RH80074;SHGC-111272;SHGC-155448;SHGC-37192;SHGC-74762;SHGC-74806;SHGC-74807;SHGC-74808;SHGC-74809;SHGC-74820 AF-1P;AF1P;MLLT5 ALL1 fused gene from chromosome 1;OTTHUMP00000009896;OTTHUMP00000009897;epidermal growth factor receptor substrate 15 APPROVED protein-coding ENSG00000085832 HGNC:3419 08968 600051 REVIEWED 1322090 EPS8L2 EPS8-like 2 This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008] 11 11 11 p15.5 777933 796226 + 706120 727727 + 706117 727727 + 6480464 12477932;12620401;14565974;14702039;15489334;15498874;16083285;18029348;19056867;19190083;21832049;21900206;21988832;8125298 64787 E9PLH1;E9PLN2;E9PM34;E9PN68;E9PNT0;E9PNY4;H0YD62;H0YF37;Q9H6S3 ABBA01015201;ABBA01015202;ABBA01015203;ABBA01015204;ABBA01015205;AF318331;AK025588;AK025824;AK027765;AK094539;AK122903;AK122984;AK222903;AK225311;AK294041;AMYH02024149;AMYH02024150;AMYH02024151;AP006621;AY074929;BC002474;BC080636;BC093878;BC101481;BC143242;CH471158;KF455296;NM_022772;XM_006718273;XM_006718274;XM_006718275;XM_006718276 AAH80636;AAH93878;AAI01482;AAI43243;AAL55838;AAL76118;BAB15180;BAB15248;BAB55354;BAD96623;BAG52883;BAG57393;EAX02375;EAX02376;NP_073609;Q9H6S3;XP_006718336;XP_006718337;XP_006718338;XP_006718339 Hs.55016 1681576;1685870;5119727 GDB:180955;RH48240;RH94040 EPS8R2;FLJ16738;FLJ21935;FLJ22171;MGC126530;MGC3088 EPS8-like protein 2;EPS8-related protein 2;OTTHUMP00000228716;OTTHUMP00000228717;OTTHUMP00000228719;OTTHUMP00000229619;epidermal growth factor receptor kinase substrate 8-like protein 2;epidermal growth factor receptor pathway substrate 8-related protein 2 APPROVED protein-coding ENSG00000177106 HGNC:21296 10940 614988 REVIEWED 1321587 EPS8 epidermal growth factor receptor pathway substrate 8 This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 12 12 12 p12.3 20917962 21087395 - 15773075 15942510 - 15620141 15789576 - 1580863;6480464;6484113;8554872 10395945;1049958;10499589;10581192;11099046;11185075;11408594;11487543;11524436;12127568;12477932;12606711;14565974;15273867;15289329;15489334;16169070;16189514;16618726;16688213;17081983;17110338;17115031;17537571;18029348;18187620;18464913;18566210;19008210;19116338;19190083;19448673;19528316;20184880;20351091;20418908;20677014;21118970;21357683;21814501;21900206;21906983;21988832;22493489;22683923;22876043;22897151;22921828;22990118;23203811;23229386;23314863;23626693;23667531;24250222;24255178;24409660;25027693;7532293;7537362;7566980;7791787;8084614;8404850;8700515;8700527;9010225;9303002 2059 B4E3T6;F5GYM8;F5H0R8;F5H1B5;F5H2B8;F5H3Q6;F5H714;H0YFG1;Q12929 ABBA01067892;ABBA01067893;ABBA01067894;ABBA01067895;AC073651;AC092753;AI219284;AI377466;AK291777;AK292931;AK301834;AK304860;AK316134;AK316239;AMYH02026102;AMYH02026103;BC005836;BC030010;BI667617;CH471094;NM_004447;U12535;XM_005253339;XM_005253340;XM_006719057 AAA62280;AAH30010;BAF84466;BAF85620;BAG63278;BAG65598;BAH14505;BAH14610;EAW96354;EAW96355;NP_004438;Q12929;XP_005253396;XP_005253397;XP_006719120 Hs.591160 1652676;1743327;1754079;1766069;1855273;2137003;2137232;2176026 GDB:314933;RH44788;RH70563;SHGC-12935;SHGC-132117;SHGC-149452;WI-12658;WI-14029 DFNB102 OTTHUMP00000239466;OTTHUMP00000239467;OTTHUMP00000239468;epidermal growth factor receptor kinase substrate 8 APPROVED protein-coding ENSG00000151491 HGNC:3420 02563 600206;615974 REVIEWED 1322450 EPS8L1 EPS8-like 1 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 52627181 52639321 + 55587221 55599291 + 55075853 55087923 + 6480464 10514543;12477932;12620401;14565974;14702039;15489334;15498874;16344560;17617578;19056867;21044950 54869 B4DKV7;K7EKX9;K7ELW3;K7EN83;Q8TE68 ABBA01068128;AC005782;AC011476;AF282167;AF282168;AF370395;AK000265;AK057052;AK075098;AK296732;AK301615;AK309305;AK309908;AMYH02036451;AY074928;BC004907;BC015763;CH471135;DA452167;DB018703;NM_017729;NM_133180;XM_005259020 AAG03038;AAG03039;AAH04907;AAH15763;AAL76117;AAQ15231;BAA91041;BAC11399;BAG51855;BAG59319;BAG63100;EAW72328;EAW72329;EAW72330;EAW72331;NP_060199;NP_573441;Q8TE68;XP_005259077 Hs.438862 2109287 EPS8L1_9838 DRC3;EPS8R1;FLJ20258;MGC23164;MGC4642;PP10566 EPS8-like protein 1;EPS8-related protein 1;epidermal growth factor receptor kinase substrate 8-like protein 1;epidermal growth factor receptor pathway substrate 8-related protein 1 APPROVED protein-coding ENSG00000131037 HGNC:21295 13276 614987 REVIEWED 1604559 EPT1 ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 26412508 26462300 + 26568954 26618759 + 26346086 26395891 + 6480464;6907045 11214970;12477932;12775843;14702039;16189514;16344560;17132865;18665829;19322201;21139048;21697133;21890473;21988832;24250222 85465 C9JAG1;C9JEZ2;Q9C0D9 AB051511;AB621826;ABBA01045182;AC010896;AK023242;AK091340;AK092710;AK095620;AMYH02003460;BC021229;BE963795;BF669898;BK001426;CH471053;DA619246;DA905145;EH350337;NM_033505 AAH21229;AAY14646;BAB21815;BAK64161;DAA01514;EAX00690;EAX00691;EAX00692;EAX00693;NP_277040;Q9C0D9 Hs.189073 1682407;1697420;1703262;1772262 A003B32;RH102210;RH98632;SHGC-24366 KIAA1724;SELI;SEPI;hEPT1 OTTHUMP00000200812;OTTHUMP00000200814;ethanolaminephosphotransferase 1;ethanolaminephosphotransferase1;selenoprotein I APPROVED protein-coding ENSG00000138018 HGNC:29361 07616 607915 REVIEWED 1353297 EPSTI1 epithelial stromal interaction 1 (breast) INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; arsenous acid 13 13 13 q13.3 24519978 24622563 - 43460524 43566407 - 42886388 42992271 - 6480464 11991720;12477932;15342556;16344560;20133812;21145461;23251661;23898208;7566098 94240 F5H4H1;F5H799;Q96J88 AA372477;ABBA01021248;AF396928;AK292461;AK313877;AL137878;AL445217;AL831953;AMYH02027937;AMYH02027938;AMYH02027939;AMYH02027940;AMYH02027941;BC023660;BP228419;BU603558;CH471075;CQ834892;DA940572;NM_001002264;NM_033255;XM_005266596;XM_005266597;XM_006719896 AAH23660;AAK73753;ABM83194;ABM86395;BAF85150;CAD38599;CAH05661;EAX08684;EAX08685;EAX08686;NP_001002264;NP_150280;Q96J88;XP_005266653;XP_005266654;XP_006719959 Hs.546467 1335870;1653064;1690952;1699508;1701486;1779226;1788194;2130482 D13S1227;D13S1688;G67436;RH103348;RH104375;RH99288;SHGC-150888;SHGC-16187 BRESI1;MGC29634 OTTHUMP00000018331;OTTHUMP00000178586;OTTHUMP00000239084;epithelial stromal interaction protein 1;epithelial-stromal interaction protein 1 protein-coding ENSG00000133106 HGNC:16465 06309 607441 VALIDATED 1322145 EPRS glutamyl-prolyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q41 193361173 193439298 - 220141940 220220000 - 219968600 220046658 - 1580863;6480464;6907045;8554872 10913161;11123902;11714285;11829477;12477932;15302935;15479637;1556743;15994936;16055448;16055720;16169070;16196087;1651330;16964243;17353931;1756734;18374644;18457437;18781797;19135240;19471022;19647514;19738201;1988429;19946888;20195357;20379614;20972266;21081666;21139048;21145461;21220307;21319273;21890473;21900206;21906983;21963094;21987572;22118674;22190034;22268729;2227938;22386318;22623428;22751010;22863883;22939629;22963397;23000965;23125841;23443559;23862649;23956138;24332808;24457600;24639526;24816145;25015289;25027693;3290852;8052601;8078941;8188258;8449960;8889549;9278442;9537509;9556618;9878398 2058 P07814;V9GYZ6;V9GZ76 AA196283;ABBA01048085;ABBA01048086;AC103590;AK296755;AK298192;AK307534;AMYH02002730;AY493416;BC015494;BC034797;BC046156;BC058921;BC067841;BC105983;BC126275;BC136465;CH471100;CR933648;JQ080075;N85252;NM_004446;X07466;X54326;X72396;X72397;X72398;X72399;X72400;X72401;X72402;X72403;X72404;X72405;X72406;X72407;X72408;X72409;X72410;X72411;X72412;X72413;X72414;X72415;X72416;X72417;X72418;X72419;X72420;X72421 AAH15494;AAH34797;AAH46156;AAH58921;AAI05984;AAI26276;AAI36466;AAS72877;AFA28127;BAG59337;BAG60462;CAA30354;CAA38224;CAI45949;EAW93309;EAW93310;NP_004437;P07814 Hs.497788 1665885;1691998;1696434;1760425;1778696;2127140;2127142;2138598 AL033652;G34812;G34844;HUM000S513;RH70835;SHGC-11953;SHGC-142608;SHGC-79732 DKFZp313B047;EARS;PARS;PIG32;QARS;QPRS GLUPRORS;OTTHUMP00000035562;bifunctional aminoacyl-tRNA synthetase;bifunctional glutamate/proline--tRNA ligase;cell proliferation-inducing gene 32 protein;glutamate tRNA ligase;glutamatyl-prolyl-tRNA synthetase;glutaminyl-tRNA synthetase;proliferation-inducing gene 32 protein;proliferation-inducing protein 32;proline tRNA ligase;proline-tRNA ligase;prolyl-tRNA synthetase APPROVED protein-coding ENSG00000136628 HGNC:3418 00703 138295 REVIEWED 1318007 EPS8L3 EPS8-like 3 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108539315 108553178 - 110292702 110306644 - 109750080 109764022 - 6480464;8554872 10737800;12477932;12620401;14565974;14702039;15489334;16341674;16344560;16710414;16712791;17124247;19807924;23099647;23602568;8125298 79574 A8K2J6;Q8TE67 ABBA01068382;AK025175;AK225235;AK290261;AK292198;AK307932;AK308196;AK310979;AL158847;AMYH02001716;AW937714;AY074930;BC012926;BM737806;BM797626;BM824107;BP419077;CB159338;CH471122;DA927692;NM_024526;NM_133181;NM_139053;XM_006710894 AAH12926;AAL76119;BAB15081;BAF82950;BAF84887;EAW56410;EAW56411;EAW56412;EAW56413;EAW56414;EAW56415;NP_078802;NP_573444;NP_620641;Q8TE67;XP_006710957 Hs.485352 1337381;1729754;2169719;7186149 D11S866;D1S221;SHGC-32779 EPS8R3;FLJ21522;MGC16817 EPS8-like protein 3;EPS8-related protein 3;OTTHUMP00000013373;OTTHUMP00000013374;OTTHUMP00000013375;epidermal growth factor receptor kinase substrate 8-like protein 3;epidermal growth factor receptor pathway substrate 8-related protein 3 APPROVED protein-coding ENSG00000198758 HGNC:21297 13277 614989 REVIEWED 1312320 ERAL1 Era-like 12S mitochondrial rRNA chaperone 1 ENCODES a protein that exhibits poly(A) RNA binding; ribosomal small subunit binding; rRNA binding; INVOLVED IN ribosomal small subunit assembly; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN actin cytoskeleton; cytoplasm; intermediate filament cytoskeleton; INTERACTS WITH copper(2+) sulfate; pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q11.2 24040945 24047496 + 27182043 27188072 + 28855025 28861054 + 1580863;6480464;8554872 10945472;11733036;12477932;14702039;14759258;15489334;20186120;20604745;21139048;21145461;21890473;22354994;22904065;22939629;22990118 26284 J3QRV9;J3QSB2;J3QT61;K7EQJ8;O75616 AB049388;ABBA01015038;ABBA01015039;AC024267;AF082657;AF082658;AK023342;AMYH02033231;AY007435;BC019094;BX537542;CH471159;NM_005702 AAC31603;AAC31604;AAG12978;AAH19094;ABM83552;ABM86792;BAB56112;BAG51183;EAW51146;EAW51147;EAW51148;EAW51149;NP_005693;O75616 Hs.3426 1678693;1734456;1848370;2109289;5022200;5037552 D17S1422E;D8S2279;ERAL1_9480;G19792;L18426;RH10596 CEGA;ERA;ERA-W;ERAL1A;H-ERA;HERA-A;HERA-B;hERA ERA-like protein 1;Era G-protein-like 1;GTP-binding protein era homolog;GTPase Era, mitochondrial;GTPase, human homolog of E. coli essential cell cycle protein Era;OTTHUMP00000163515;conserved ERA-like GTPase;era (E. coli G-protein homolog)-like 1 APPROVED protein-coding ENSG00000132591 HGNC:3424 08466 607435 PROVISIONAL 1323569 EPX eosinophil peroxidase This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded precursor protein is processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a cluster of three peroxidase genes at chromosome 17q23. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Sep 2009] 17 17 17 q23.1 52731868 52744314 + 56270089 56282535 + 58192728 58205378 + 1580863;6480464;6907045;8699517;7240710;8554872 10358043;10386597;10828600;10971470;11076863;12477932;12540536;14657871;15316147;15894800;16336215;17474147;18694936;19014520;19439985;20237496;20453000;20501663;21454806;22702502;22750539;23197886;23931643;24738159;2541222;2550461;7809065 8288 P11678 ABBA01041328;AC005962;AJ705406;AL597635;AMYH02033686;BM147889;CH471109;DQ054598;M29904;M29913;NG_013020;NM_000502;X14346;XM_006722128 AAA58458;AAI11603;AAY43126;CAA32530;EAW94479;EAW94480;NP_000493;P11678;XP_006722191 Hs.279259 1651323;1691720 G42205;WI-11807 EPO;EPP;EPX-PEN APPROVED protein-coding ENSG00000121053 HGNC:3423 00576 131399;261500 REVIEWED 1342522 EQTN equatorin, sperm acrosome associated INVOLVED IN acrosomal vesicle exocytosis (inferred); endocytosis (inferred); fusion of sperm to egg plasma membrane (inferred); FOUND IN inner acrosomal membrane (ortholog); outer acrosomal membrane (ortholog); INTERACTS WITH flutamide (ortholog) 9 9 9 p21 27212799 27225283 - 27284652 27297137 - 27284654 27297139 - 6480464 11118625;12477932;16831425;20379614;20801718 54586 Q9NQ60 ABBA01065130;AJ278482;AL133411;AMYH02019350;BC014307;BC137351;BC137352;BC144602;BX089774;CH471071;CS072268;NM_001161585;NM_020641;XM_005251488 AAH14307;AAI37352;AAI37353;AAI44603;CAC00687;CAI93406;EAW58566;EAW58567;EAW58568;NP_001155057;NP_065692;Q9NQ60;XP_005251545 Hs.163070 AFAF;C9orf11;SPACA8 OTTHUMP00000022786;acrosome formation associated factor;acrosome formation-associated factor;equatorin;sperm acrosome associated 8 APPROVED protein-coding ENSG00000120160 HGNC:1359 12932 VALIDATED 1314212 EPYC epiphycan Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008] 12 12 12 q21 91028588 91069952 - 91357456 91398803 - 90963679 91005026 - 1580863;6480464;8554872 10330124;12477932;15489334;16902402;17558846;19616852;19844586;20357198;25114248;8975717 1833 F8VSI4;Q99645 ABBA01053409;AC078873;AF031658;AK290642;AMYH02026915;BC030958;BQ007792;CH471054;KM111190;NM_004950;U59111 AAC50945;AAH30958;ADR82703;AIL83750;BAF83331;EAW97444;EAW97445;EAW97446;EAW97447;NP_004941;Q99645 Hs.435680 1794078;1794080;1794082;2142441 PMC310783P1;PMC310783P2;PMC310783P3;STS-N22463 DSPG3;PGLB;Pg-Lb;SLRR3B OTTHUMP00000242886;OTTHUMP00000242887;dermatan sulfate proteoglycan 3;epiphycan proteoglycan;proteoglycan-lb;small chondroitin/dermatan sulfate proteoglycan APPROVED protein-coding ENSG00000083782 HGNC:3053 15988 601657 REVIEWED 1321667 ERBB2IP erbb2 interacting protein This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 5 5 5 q12.3 62220805 62374902 + 65222382 65376851 + 65926554 66081023 + 1580863;6480464;6907045 10574462;10878805;11278603;11279080;11375975;11440998;11711544;11821434;12047349;12168954;12370826;12379659;12444095;12446668;12477932;12650946;12966186;14702039;15123239;15144186;15231748;15302935;15342556;15489334;15570572;15592455;16094384;16203728;16301319;16344560;16714539;16737969;17081983;17100642;17110338;17591701;17643375;18003620;18029348;18498353;18667832;18729074;19013433;19187442;20379614;20936779;21139048;21150319;21878490;21906983;21963094;21988832;22547678;22745766;22880131;23000965;23524970;23711387;25011449 55914 B4DIP2;H0Y9E8;H0YA04;Q96RT1 AB033051;ABBA01048318;ABBA01048319;ABBA01048320;ABBA01048321;AC010359;AC025442;AF263744;AF276423;AI082776;AK001180;AK027077;AK074288;AK295708;AK304693;AL704641;AMYH02011433;AMYH02011434;BC050692;BC115012;BC115015;BC126464;BC144075;BP199825;BP342103;BU145959;CB998970;CH471137;D62071;DA723889;DR000131;EU668330;N67861;NG_031822;NM_001006600;NM_001253697;NM_001253698;NM_001253699;NM_001253701;NM_018695;XM_005248554;XM_005248555;XM_005248556;XM_006714660 AAF77048;AAH50692;AAI15013;AAI15016;AAI26465;AAI44076;AAK69431;ACF94483;BAA86539;BAA91538;BAG58554;BAG65463;EAW51332;EAW51333;EAW51334;EAW51335;NP_001006600;NP_001240626;NP_001240627;NP_001240628;NP_001240630;NP_061165;Q96RT1;XP_005248611;XP_005248612;XP_005248613;XP_006714723 Hs.591774;Hs.597241 1648981;1664545;1729894;1770075;1786620;1856003;2136178;2143128;5017807 D5S356;ERBB2IP;G07329;RH36556;RH46258;RH78179;SGC33426;SHGC-144444;SHGC-31186 HEL-S-78;LAP2 ERBB2-interacting protein;ERBIN;OTTHUMP00000123463;OTTHUMP00000123464;OTTHUMP00000221984;OTTHUMP00000221985;OTTHUMP00000221986;OTTHUMP00000221987;OTTHUMP00000221988;densin-180-like protein;epididymis secretory protein Li 78 APPROVED protein-coding ENSG00000112851 HGNC:15842 06090 606944 REVIEWED 1345319 ERAS ES cell expressed Ras This gene encodes a constitutively active member of the small GTPase Ras protein family. The encoded protein activates the phosphatidylinositol 3-kinase signal transduction pathway in undifferentiated stem cells, but is not expressed in differentiated cells. This gene may be involved in cancer and chemotherapy resistance. [provided by RefSeq, Dec 2012] X X X p11.23 52974981 52976246 - 48684923 48688279 + 48826513 48829869 + 1580863;6480464 12477932;12774123;15489334;16081664;16436505;17940286;18174262;18225573;19528480;19787253;20566745;20811723;21151392;21205089;21965746;22875024;23612786;6322122;9269777;9344703 3266 Q7Z444 AB093575;ABBA01046068;ABBA01046069;AC231533;AF196971;AMYH02039308;BC101642;BC101644;CH471224;HY043532;JC006865;NM_181532;X00419 AAI01643;AAI01645;BAC76997;CDL93483;EAW50743;NP_853510;Q7Z444 Hs.447330 1702372;1740647;5493373;7185928 DXS6676;GDB:192495;UniSTS:485868 E-Ras;HRAS2;HRASP;MGC126691;MGC126693 GTPase ERas;OTTHUMP00000065857;embryonic stem cell-expressed Ras;small GTPase protein E-Ras;v-Ha-ras Harvey rat sarcoma viral oncogene homolog 2;v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene protein-coding HGNC:5174 02339 300437 REVIEWED 1605959 ERAP2 endoplasmic reticulum aminopeptidase 2 Aminopeptidases hydrolyze N-terminal amino acids of proteins or peptide substrates. Major histocompatibility complex (MHC) class I molecules rely on aminopeptidases such as ERAP1 (MIM 606832) and LRAP to trim precursors to antigenic peptides in the endoplasmic reticulum (ER) following cleavage in the cytoplasm by tripeptidyl peptidase II (TPP2; MIM 190470) (Tanioka et al., 2003 [PubMed 12799365]).[supplied by OMIM, Mar 2008] 5 5 5 q15 92096045 92139932 + 96211644 96255420 + 96875940 96919703 + 6480464;8554872 11481040;11752456;12477932;12799365;15691326;15908954;16054015;16344560;16585582;17129607;18369178;18393273;19433412;19578876;20103633;20419298;20595269;20843824;20976248;21102463;21299892;21314638;21569342;21719416;22106953;22505422;22837489;23128233;23435305;23545452;23696916;23988446;24223975;24928998 64167 B2R769;D6RF46;D6RGW0;H0Y9X9;H0YAL8;Q6P179 AB109031;AB163917;ABBA01069226;ABBA01069227;ABBA01069228;ABBA01069229;AC008850;AC009126;AF191545;AK074213;AK074281;AK074387;AK312864;AMYH02011833;AV688559;AY028805;BC017927;BC065240;BU430967;CH471084;DA990479;DB159802;NM_001130140;NM_022350;XR_246538;XR_246539 AAG28383;AAH17927;AAH65240;AAK37776;BAC78818;BAD90015;BAG35716;EAW96080;EAW96081;EAW96082;NP_001123612;NP_071745;Q6P179 Hs.482910 1697644;1697740;1790267;2107279;5021872 KS618;LRAP__7431;RH102337;RH102392;sY3084 FLJ23633;FLJ23701;FLJ23807;L-RAP;LRAP OTTHUMP00000158906;OTTHUMP00000222873;OTTHUMP00000222877;leukocyte-derived arginine aminopeptidase APPROVED protein-coding ENSG00000164308 HGNC:29499 14306 609497 VALIDATED 732566 ERAP1 endoplasmic reticulum aminopeptidase 1 The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] 5 5 5 q15 91980937 92028293 - 96096514 96149848 - 96760810 96814145 - 1578804;2315691;2315693;6480464 15741767;16181325;19202550 10220586;11056387;11481040;11857741;12168954;12189246;12368856;12436109;12436110;12477932;12748171;12975309;14662887;15314084;15489334;15691326;15908954;16034137;16054015;16286653;16344560;16407280;16502470;16585582;17015730;17390085;17952073;17999179;18393273;18445477;18593381;18987748;19110536;19199708;19404951;19414429;19433412;19578876;19581569;19692350;19828632;19877036;19913121;19917163;19946888;20032103;20062062;20103633;20347630;20367925;20379614;20419298;20592285;20595269;20628086;20843824;20953187;20953190;21041274;21068102;21078719;21139048;21229357;21242517;21281511;21314638;21362330;21424381;21478864;21508329;21574996;21743469;21833528;21865284;21877190;22106953;22253828;22286212;22355701;22466567;22512642;22632381;22797925;22896742;22918227;22931917;23093722;23128233;23264405;23281010;23291587;23452840;23545452;23656713;23696916;23733883;23800305;23864143;23965983;24028501;24046467;24223975;24352655;24504800;24928998;8125298;9628581 51752 D6RAL9;H0Y9X5;Q9NZ08 AB011097;ABBA01069229;AC008906;AF106037;AF183569;AF222340;AK222873;AK291636;AK310535;AL110186;AMYH02011831;AMYH02011832;AY028806;AY028807;AY358590;BC030775;CH471084;DA327238;DA704693;DC398730;JX962699;JX962700;JX962701;JX962702;KC877037;KF510931;NG_027839;NM_001040458;NM_001198541;NM_016442;XM_005272015;XM_005272016 AAF07395;AAF20384;AAF34664;AAH30775;AAK37777;AAK37778;AAQ88953;AGR86647;AGR86648;AGR86649;AGR86650;BAA25451;BAD96593;BAF84325;EAW96077;EAW96078;EAW96079;NP_001035548;NP_001185470;NP_057526;Q9NZ08;XP_005272072;XP_005272073 Hs.666524 1661367;1666189;1669529;1681987;1739073;1854165;2106439;2116803;2140895;2151157;2156146;2162460;2182273;2187627;5095827 ARTS-1__4376;D5S1571E;D5S1787;D5S2413;D5S2629;D5S2667;G16055;RH45579;RH47549;RH69827;RH70772;RH80470;SHGC-60474;STS-D29461;WI-18741 A-LAP;ALAP;ARTS-1;ARTS1;ERAAP1;KIAA0525;PILS-AP APPILS;ERAAP;OTTHUMP00000158909;OTTHUMP00000222801;PILSAP;adipocyte-derived leucine aminopeptidase;aminopeptidase PILS;aminopeptidase regulator of TNFR1 shedding;endoplasmic reticulum aminopeptidase 1 delta-Exon-11 isoform;endoplasmic reticulum aminopeptidase 1 delta-Exon-13 isoform;endoplasmic reticulum aminopeptidase 1 delta-Exon-14 isoform;endoplasmic reticulum aminopeptidase 1 delta-Exon-15 isoform;endoplasmic reticulum aminopeptidase associated with antigen processing;leucyl-specific aminopeptidase pils;puromycin-insensitive leucyl-specific aminopeptidase;type 1 tumor necrosis factor receptor shedding aminopeptidase regulator APPROVED protein-coding ENSG00000164307 HGNC:18173 06015 606832 REVIEWED 732538 ERBB4 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 2 2 2 q33.3-q34 206008419 207168130 - 212240442 213403879 - 211375717 212539155 - 734941;1580863;1580989;2289949;2289978;2289992;2289977;2289981;2289942;2289956;2289979;2289943;2289947;2289993;2289980;2289987;2289950;2289951;2298502;2298505;2298506;2298499;2317965;6480464;6907045;8699517;7240710;8554872 10421602;10537356;11206334;14555954;14614020;15360049;15694257;15788662;16469638;16685269;16962163;17203220;17401154;17438359;17465220;17465227;17922460;18006009;18094435;18182100;18519747;18575766 10348342;10353604;10572067;10722704;10725395;10839362;10918572;11254912;11278868;11679632;11741961;11825873;11867753;12175853;12297288;12454007;12477932;12528817;12532415;12637154;12646923;12648466;12678544;12807903;12869563;12939402;14702039;15023535;15026342;15084248;15248827;15282549;15345710;15489334;15534001;15562026;15685397;15735025;15746097;15863494;15979989;15985438;16061658;16170367;16187281;16203964;16249994;16251361;16273093;16402353;16428439;16463386;16477370;16518842;16606438;16729043;16767099;16778220;16819515;16832345;16837552;16842254;16878160;16891421;16912174;16914727;16934755;17018285;17120616;17164265;17177598;17360433;17463226;17487277;17505063;17598910;17638867;17681096;17761534;17903305;17909041;17945187;17969526;18029348;18334220;18334649;18335053;18424286;18662768;18668031;18721752;18973758;18985033;19017278;19047365;19098003;19148499;19171023;19193720;19240061;19263517;19367581;19390858;19439407;19447869;19481955;19561640;19596786;19609946;19624808;19718025;19736351;19808643;19913121;20022944;20029029;20204273;20301623;20303366;20379614;20446891;20550710;20585313;20600594;20603612;20628086;20858735;20881644;20886074;20921115;20975381;21203803;21217148;21232925;21233683;21290564;21407808;21422241;21547347;21637803;21664604;21805036;21832192;21890473;21993442;22012915;22115776;22294845;22308027;22327010;22378872;22415601;22452962;22504067;22549119;22554477;22584572;22634065;22699492;22739235;22761786;22854050;22891299;22939624;23028342;23123776;23137868;23153581;23230144;23237222;23301017;23313737;23333248;23340734;23395558;23432624;23543049;23681745;23723069;23870195;23903073;23927961;23991224;24015958;24063248;24119685;24159190;24308844;24318637;24333426;24338375;24366194;24438167;24529757;24550385;25036637;7689552;7700649;7721889;8062828;8383326;8617750;8619474;9110174;9135143;9168114;9168115;9230911;9275162;9334263;9419975;9516479;9565587;9771476 2066 E9PDR1;H3BLT0;Q15303 AB209697;ABBA01062750;ABBA01062751;ABBA01062752;ABBA01062753;ABBA01062754;ABBA01062755;ABBA01062756;ABBA01062757;ABBA01062758;ABBA01062759;ABBA01062760;ABBA01062761;AC012069;AC068970;AC079119;AC092680;AC092840;AC093823;AC096547;AC096765;AC105921;AC108216;AC108220;AF007153;AI793060;AK024204;AK126298;AK308606;AMYH02005689;AMYH02005690;AMYH02005691;AMYH02005692;AMYH02005693;AMYH02005694;AMYH02005695;AMYH02005696;AMYH02005697;AMYH02005698;AMYH02005699;AMYH02005700;AMYH02005701;AMYH02005702;AMYH02005703;AMYH02005704;AMYH02005705;AMYH02005706;AMYH02005707;AMYH02005708;AMYH02005709;BC112199;BC143741;BC143747;BC143749;BQ015804;CH471063;CR627023;CS238515;KF456758;KF510781;L07868;NG_011805;NM_001042599;NM_005235;XM_005246375;XM_005246376;XM_005246377;XM_006712364 AAB59446;AAI12200;AAI43742;AAI43748;AAI43750;AAX82011;AAX88856;AAY14899;AAY15092;AAY24158;AAY24303;BAD92934;CAJ55818;EAW70496;EAW70497;EAW70498;NP_001036064;NP_005226;Q15303;XP_005246432;XP_005246433;XP_005246434;XP_006712427 Hs.390729 1334723;1644323;1645413;1694608;1703962;1704178;1706080;1706446;1709122;1710582;1713567;1713723;1715065;1721555;1726237;1729121;1734942;1747599;1757315;1769657;1779810;1852738;1853764;2114254;2115270;2131113;2140384;2168434;2174818;2186992;5094184;7187501 A005E44;AFMa052yb9;AU049543;D2S1702E;D2S1749;D2S2712;D2S371;G16508;G19847;G43306;G54596;G59782;G63819;G65476;RH119484;RH120271;RH120744;RH15943;RH45906;RH47938;RH68995;SHGC-144718;SHGC-153780;SHGC-79806;SHGC-80076;SHGC-80807;SHGC-82395;SHGC-83780;SHGC-85721;SHGC-9274;WI-21559 ALS19;HER4;MGC138404;p180erbB4 OTTHUMP00000163968;OTTHUMP00000206623;OTTHUMP00000209432;avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4;proto-oncogene-like protein c-ErbB-4;receptor tyrosine kinase;receptor tyrosine-protein kinase erbB-4;tyrosine kinase-type cell surface receptor HER4;v-erb-a erythroblastic leukemia viral oncogene homolog 4 APPROVED protein-coding ENSG00000178568 HGNC:3432 02767 600543;615515 REVIEWED 1607056 ERC2 ELKS/RAB6-interacting/CAST family member 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN growth cone (ortholog); presynaptic membrane (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 3 3 3 p14.3 55509269 56468649 - 55542336 56502391 - 55508308 56468363 - 6480464;8554872 12163476;12168954;12391317;12477932;12923177;14723704;14734538;15090600;15217342;15489334;15728193;17903296;18519826;20195357;20201926;20379614;21057379;21565611;21963094;22939629;24024966;9205841 26059 H7C4G9;O15083 AB002376;ABBA01024450;ABBA01024451;ABBA01024452;ABBA01024453;ABBA01024454;ABBA01024455;AC025572;AC098478;AC099775;AC104302;AC105748;AC105753;AC116991;AC121255;AC121764;AC126119;AC130276;AMYH02006843;AMYH02006844;AMYH02006845;AMYH02006846;AMYH02006847;AMYH02006848;AMYH02006849;BC111550;BC112391;CH471055;KF457633;KF457638;NM_015576;XM_005265036;XM_006713101;XR_245112;XR_245113;XR_245114;XR_245115;XR_245116 AAI11551;AAI12392;BAA20832;EAW65315;EAW65316;NP_056391;O15083;XP_005265093;XP_006713164 Hs.476389 1334597;1335269;1335522;1336576;1336835;1339021;1339174;1659409;1667780;1671742;1705480;1705602;1705740;1706518;1717635;1722965;1730211;1739449;1747861;1749627;1752737;1754243;1755831;1760127;1762801;1763999;1765513;1765611;1779198;1783382;1784898;1848823;2122619;2131902;2132685;2141930;2156654;2158977;2159247;2163964;2164217;2164688;2182866;2183471;5095066;7184675 A002T36;AFMA338XC5;AHT028;Cda0je04;D3S1326E;D3S1332E;D3S1606;D3S2371;D3S2408;D3S2493;D3S2972;D3S2976;D3S3048;D3S3115;D3S3134;D3S3279;D3S3588;D3S3621;D3S3721;D3S3724;D3S4007;G60580;G66853;NIB681;RH122122;RH18386;SHGC-106543;SHGC-108160;SHGC-111312;SHGC-132265;SHGC-14182;SHGC-142673;SHGC-146580;SHGC-147651;SHGC-148992;SHGC-149061;SHGC-152190;SHGC-152756;SHGC-79620;SHGC-81231;SHGC-83461;SHGC-83829;SHGC-83911;STS-M78320;WI-14613 CAST;CAST1;ELKSL;KIAA0378;MGC133063;MGC133064;SPBC110;Spc110 CAZ-associated structural protein;ERC protein 2;OTTHUMP00000212914;OTTHUMP00000212915;OTTHUMP00000212916;cytomatrix protein p110 protein-coding ENSG00000187672 HGNC:31922 10810 VALIDATED 1350595 ERC2-IT1 ERC2 intronic transcript 1 (non-protein coding) This gene is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008] 3 3 3 p14.3 55658297 55660560 - 55691234 55693497 - 55657206 55659469 - 6480464 12477932;9653645 711 O76042 ABBA01024453;AC025572;AMYH02006843;BC069104;BC069453;BC074933;BC074934;NR_024615;U88965 AAC39932 Hs.667161 2158977;5492705;5494045 D3S2976;UniSTS:480801;UniSTS:482095 C1orf1;C3orf51;Po42 APPROVED ncrna HGNC:1229 04924 VALIDATED 1604628 ERC1 ELKS/RAB6-interacting/CAST family member 1 The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 12 12 12 p13.3 2707077 3211656 + 1100404 1605099 + 991238 1495933 + 6480464;6484113;8554872 10337992;10470851;10697956;11929610;12168954;12203787;12391317;12477932;12923177;14702039;14723704;15218148;15324660;15489334;16964243;1733848;17353931;17690697;19013454;19531213;20201926;20379614;20533395;20562859;20932476;21139048;21144913;21145461;21150319;21832049;21911577;21917424;22504420;22558309;22713806;22939629;23000965;23398456;23455922;23583364;23602568;24152084;24255178;24613754;24816145;24982445;8889548 23085 G8JLD3;K7EIZ7;K7EKH8;K7EP25;K7EPD6;K7EPP6;Q8IUD2;X6RLX0;X6RM00 AB015617;AB029004;AB053468;AB053469;AB053470;AB053471;ABBA01048826;ABBA01048827;ABBA01048828;ABBA01048829;ABBA01048830;ABBA01048831;ABBA01048832;AC004671;AC004672;AC004802;AC004803;AC004804;AC006561;AC092469;AK000148;AK056312;AK091577;AK092201;AK097177;AK294351;AK309992;AMYH02025859;AMYH02025860;AMYH02025861;AMYH02025862;AMYH02025863;AMYH02025864;AMYH02025865;AMYH02025866;AMYH02025867;AMYH02025868;AMYH02025869;AMYH02025870;AMYH02025871;BC005065;BC037377;BC068006;BC073885;BC132782;BC132784;BC144287;BC150248;BM984956;CH471116;DR000847;KC877502;KF455581;NM_001301248;NM_178039;NM_178040;NR_027946;NR_027948;NR_027949;X58046 AAH68006;AAI32783;AAI32785;AAI50249;BAA83033;BAA88763;BAA90975;BAC03827;BAC54107;BAC54108;BAC54109;BAC54110;BAG57618;EAW88932;EAW88933;EAW88934;EAW88935;EAW88936;EAW88937;EAW88938;EAW88939;EAW88940;NP_001288177;NP_829883;NP_829884;Q8IUD2 Hs.601216 1335205;1342151;1663695;1672192;1672238;1687622;1689652;1693946;1713841;1725221;1731922;1733622;1736270;1758831;1772581;1782614;2118509;2127378;2141818;2145179;2149299;2154774;2167768;2182123;2184405;2186315;5022200;5100437 A004N30;D12S1227E;D12S1285;D12S1406;D12S1587;D12S2047;D12S388;D12S389;D12S40;D12S972;G24041;G41231;G41232;G41233;G41234;G41235;G41791;G42667;L18426;RH118903;RH120809;RH45217;RH48779;RH91161;SHGC-144473;SHGC-152870;STS-W47124;WI-13645 Cast2;ELKS;ERC-1;FLJ31750;KIAA1081;MGC12974;RAB6IP2 OTTHUMP00000160633;OTTHUMP00000238056;OTTHUMP00000238057;OTTHUMP00000238058;OTTHUMP00000238059;OTTHUMP00000238060;OTTHUMP00000238061;RAB6 interacting protein 2;Rab6-interacting protein 2 APPROVED protein-coding ENSG00000082805 HGNC:17072 06181 607127 REVIEWED 733426 ERBB3 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 12 12 12 q13 56125560 56149315 + 56473809 56497291 + 56080025 56103507 + 1580863;2289947;2289967;2289949;2289980;68774;2289942;2289944;2289979;2289946;2289952;2289941;2289950;2289951;2298500;2298502;2298505;2298506;2298499;2298501;2317965;2317988;6480464;6484113;6907045;7240710;5133679;2289958;8699517;8554872 10537356;11206334;11797086;14614020;14711829;16469638;16685269;16829981;16896008;16962163;17203220;17465220;17465227;17532856;17634423;17704947;18182100;18519747;18559590;18575766;20889352;9030624;9470844 10095121;10369675;10383151;10527633;10559227;10572067;10682683;10710290;10799311;11114724;11166154;11173924;11189010;11278868;11325528;11326315;11337467;11389077;11546794;11555649;11807823;11821958;11859873;11867753;11914075;12093292;12154198;12411582;12477932;12483526;12556529;12618754;12646923;12768307;12789268;12824184;12840049;12853564;12888923;12939402;14576349;14647450;14702039;14737100;15141384;15162166;15225657;15282549;15358134;15378541;15489334;15498868;15499613;15504738;15520002;15583694;15611073;15688028;15704104;15731393;15862947;16143043;16169070;16199884;16273093;16307437;16341674;16401639;16622439;16675564;16690615;16729043;16867224;16896310;16958035;17177598;17203234;17210635;17275115;17384230;17463250;17554260;17554300;17627612;17631905;17638862;17652160;17671674;17697999;17701904;17823122;17969526;18024331;18036567;18056992;18172732;18198356;18231572;18270579;18381441;18398842;18424286;18593762;18625725;18632642;18698037;18700973;18768436;18799465;18852121;18940880;18942860;18978792;18985033;19047113;19060928;19073967;19148499;19240061;19288496;19367581;19390858;19430480;19447869;19481955;19497323;19609946;19622585;19648825;19659570;19737968;19797898;19878579;19913121;19951419;19995212;20029029;20038315;20064929;20103628;20203524;20204273;20227043;20351256;20446891;20467331;20537867;20549515;20581867;20586186;20587519;20589763;20604919;20626753;20628057;20628086;20628624;20647273;20647770;20661224;20668683;20682778;20695834;20695903;20726858;20800603;20824716;20881644;20951118;20962850;21109951;21203803;21246584;21320340;21385943;21391216;21407808;21438025;21484789;21576364;21622572;21638049;2164210;21709195;21725367;21741919;21792199;21801427;21829393;21877752;21930127;21939528;22213458;22248472;22261253;22262199;22274864;22301547;22327010;22436610;22484852;22552284;22554477;22562124;22733765;22815787;22848366;22853430;22854050;22891299;22939624;22951725;22983903;22989054;23052372;23060569;23135478;23137868;23146892;23213231;23251661;23320098;23328545;23333248;23395558;23468880;23480537;23504322;23541807;23543055;23611113;23617461;23680147;23698633;23700486;23723069;23758840;23780344;23792093;23835063;23843458;23846916;23937725;23951180;23990774;23991224;23991962;23998444;23999432;24014028;24036211;24044505;24084886;24097984;24300455;24346286;24519943;24662824;24692179;24747692;2687875;7514177;7538656;7556068;7592681;7656248;7685162;7689552;7847801;8188716;8669836;8702572;8889548;9130710;9168114;9168115;9516479;9565587;9681822;9694850;9756944 2065 B3KWG5;B4DGQ7;F8VRI5;F8VRL0;F8VW48;F8VW56;F8VX90;F8VYK4;P21860 AA524528;ABBA01008405;AC034102;AK124710;AK125028;AK291681;AK294719;AK295650;AK300909;AMYH02026560;AMYH02026561;AMYH02026562;AU100462;BC002706;BC041579;BC082992;BM837872;BT007226;BU674508;BX641868;CH471054;DC344156;DC347955;JA454939;M29366;M34309;NG_011529;NM_001005915;NM_001982;S61953;U88356;U88357;U88358;U88359;U88360 AAA35790;AAA35979;AAB26935;AAC39857;AAC39858;AAC39859;AAC39860;AAF86628;AAH02706;AAH82992;AAP35890;BAF84370;BAG54075;BAG54127;BAG57868;BAG58519;BAG62544;CCD32996;EAW96879;EAW96880;EAW96881;EAW96882;EAW96883;NP_001005915;NP_001973;P21860 Hs.118681;Hs.622058 1339529;1643735;1654249;1739387;1746545;1795794;2152074;2153742;5038503 D12S1388E;D12S1604;ERBB3_1423;G15952;G64347;RK1196_1197;SHGC-35265;STS-M34309;WI-16415 ErbB-3;HER3;LCCS2;MDA-BF-1;MGC88033;c-erbB-3;c-erbB3;erbB3-S;p180-ErbB3;p45-sErbB3;p85-sErbB3 OTTHUMP00000243039;OTTHUMP00000243040;OTTHUMP00000243072;OTTHUMP00000243359;OTTHUMP00000243360;avian erythroblastosis oncogene b 3;proto-oncogene-like protein c-ErbB-3;receptor tyrosine-protein kinase erbB-3;tyrosine kinase-type cell surface receptor HER3 APPROVED protein-coding ENSG00000065361 HGNC:3431 01820 190151;607598 REVIEWED 1342473 ERCC5 excision repair cross-complementation group 5 This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011] 13 13 13 q33 84342654 84372832 + 103498191 103528351 + 102845841 102876001 + 1580863;6480464;6907045;7240710;7246926;7246919;8554872;8699517 19154342;22824526 10026181;10214908;10408173;10447254;10498399;10583946;11228268;11259578;11266544;11313499;11841555;12060391;12477932;12494477;12644470;12865926;12869423;14688016;14726017;14729591;1483924;15082767;15195146;15302935;15328203;15358233;15489334;15494739;15572672;15590680;15746040;15849729;15992842;16043197;16094634;16147992;16167068;16195237;16246722;16258177;16284370;16284373;16343742;16344560;16399771;16492920;16507781;16536785;16537713;16609022;16646069;16713569;16738949;16823510;16916636;16979838;16985021;17078101;17081983;17121236;17164380;17208056;17299578;17313739;17374967;17438655;17466625;17476281;17494052;17575242;17643375;17685459;17712032;17825393;17855454;17893230;17932351;18026184;18077223;18079701;18204222;18270339;18320070;18478970;18676680;18701435;18709642;18767034;18825991;18830263;18854154;18854777;18990748;19029193;19064572;19074885;19096231;19116388;19124519;19157633;19170196;19177501;19237606;19270000;19280628;19289372;19350405;19404856;19414392;19430706;19434073;19444904;19471022;19536092;19573080;19625176;19661089;19692168;19693700;19740755;19773279;19789190;19878615;19954624;20150366;20183911;20199546;20232390;20233728;20301571;20391347;20453000;20460046;20496165;20522537;20530453;20601096;20644561;20725631;20731661;20813000;20868484;21139048;21216588;21287534;21347786;21390047;21415862;21424776;21426550;21558802;21670956;21890473;21963094;22108238;22213216;22371296;22659345;2276736;22771116;22781116;22815677;22848513;22981091;22982416;23000965;23246108;23255472;23330005;23370536;23424205;23464443;23534771;23602568;23621222;23626689;23679317;23818366;23886164;24061640;24192772;24563277;24596032;24615519;24816145;7510366;7517009;7651464;7657672;7700386;7951246;8078765;8088806;8090225;8206890;8413238;8483504;8483505;8652557;8710877;9305916;9927729 2073 F2Z2A1;P28715 ABBA01027069;AF255433;AF255436;AF462447;AF550128;AK294708;AK299758;AK303558;AL157769;AMYH02028627;BC031522;BE223050;BQ002437;BQ707436;BX647399;CH471085;D16305;DA195001;L20046;LM994821;NG_007146;NM_000123;X69978;X71341;X71342 AAC37533;AAF89177;AAF89178;AAF89179;AAH31522;AAN46091;AAP97715;ABM82744;ABM85932;BAA03812;BAG57863;BAG61647;BAG64582;CAA49598;CAA50481;CDY80174;EAX09071;EAX09072;NP_000114;P28715 Hs.258429 1645730;1648879;1725573;1743073;1744719;1762869;1788296;1788298;1793262;1793264;1795796;2133347;2143820;2152163 A008L48;A009V05;ERCC5_1281;G62084;G67466;G67467;GDB:251639;GDB:554884;PMC20331P1;PMC20331P2;RH46042;RH71360;SHGC-146634;STS-X69978 COFS3;ERCC5-201;ERCM2;UVDR;XPG;XPGC DNA excision repair protein ERCC-5;DNA repair protein complementing XP-G cells;OTTHUMP00000018678;XPG-complementing protein;excision repair cross-complementing rodent repair deficiency, complementation group 5;excision repair protein;xeroderma pigmentosum complementation group G protein;xeroderma pigmentosum group G-complementing protein;xeroderma pigmentosum, complementation group G APPROVED protein-coding ENSG00000134899 HGNC:3437 00595 133530;278780 REVIEWED 1312517 ERCC4 excision repair cross-complementation group 4 The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009] 16 16 16 p13.12 14189206 14221394 + 14014014 14046205 + 13920157 13952348 + 1580863;1601093;2317223;6480464;6907045;7240710;7246926;7246919;8554872;8699517 18544627;19154342;22824526;8797827 10074455;10214908;10413517;10447254;10479728;10583946;10644440;11259578;11313499;11401546;11790111;11895912;12477932;12571280;14625810;14652281;14690602;14706347;14728600;14734547;15095299;15184880;15849729;15886521;15932882;15936543;16034668;16076955;16195237;16258177;16284373;16284380;16338413;16393248;16399771;16492920;16537713;16609022;16638864;16678501;16806697;16823510;16916636;17018596;17055345;17078101;17081983;17210993;17289582;17299578;17313739;17438655;17575242;17682675;17685459;17912758;17945097;18006494;18020456;18026184;18068852;18270339;18396111;18551366;18676680;18701435;18709642;18767034;18812185;18830263;18838045;18990748;19029193;19064572;19074885;19116388;19124519;19170196;19237606;19258314;19297315;19339270;19394292;19423537;19434073;19471022;19536092;19595721;19595722;19596235;19596236;19625176;19692168;19902366;19920816;19956886;20061190;20062074;20150366;20183911;20199546;20201926;20221251;20301571;20372803;20429839;20453000;20496165;20508642;20518486;20522537;20541997;20585324;20601096;20634891;20644561;20694148;20731661;20846399;20864414;20957144;21139048;21240275;21277872;21423097;21424776;21672525;21693764;21737503;21839691;21890473;21896658;22085899;22212909;22353549;22457069;22547097;22609620;22768293;22771116;22848636;22902628;22939629;23093618;23385459;23415627;23435956;23537993;23580445;23623386;23623389;23679285;23909490;23982883;23991957;23994477;24004570;24012755;24027083;24318989;24412486;24412650;24816145;24861646;7559382;8197175;8332082;8887684;9485007;9579555;9580660;9722633 2072 I3L4K0;I3NI48;Q92889 ABBA01006877;AC009173;AC010401;AF491814;AI470593;AK289726;AK301930;AK308341;AMYH02031530;AMYH02031531;BC020741;BC142631;CH471112;L76568;L77890;NG_011442;NM_005236;U64315;XR_243267;XR_429638 AAB07689;AAB50174;AAH20741;AAI42632;AAI60102;AAL91593;BAF82415;BAG63350;EAW85117;EAW85118;NP_005227;Q92889 Hs.567265 1679169;1788390;1788392;1788394;1788396;1788398;1788400;2142541;2219790;5015861;5016781;7185938 D10S16;ERCC4_4079;G67511;G67512;G67513;G67514;G67515;G67516;RH65247;RH76185;SHGC-67307 ERCC11;FANCQ;RAD1;XPF DNA excision repair protein ERCC-4;DNA repair endonuclease XPF;DNA repair protein complementing XP-F cells;OTTHUMP00000045868;excision repair cross-complementing rodent repair deficiency, complementation group 4;excision-repair, complementing defective, in Chinese hamster;xeroderma pigmentosum group F-complementing protein;xeroderma pigmentosum, complementation group F APPROVED protein-coding ENSG00000175595 HGNC:3436 00594 133520;278760;610965;615272 REVIEWED 1315921 ERCC1 excision repair cross-complementation group 1 The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009] 19 19 19 q13.32 42716697 42733283 - 45910591 45982241 - 45407333 45478837 - 1580863;2313668;6480464;6907045;7240710;7246926;8554872;8699517 19154342;19440222 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2067 K7EJL2;K7EJW9;K7EK97;K7EMT9;K7EP14;K7ER60;K7ER89;K7ES46;P07992 AA761510;AB069681;ABBA01040926;ABBA01040927;AC092309;AC138128;AC138534;AC139353;AF001925;AF433652;AF512555;AK092039;AK314884;AMYH02036198;BC008930;BC052813;BM011724;BM450988;BM789972;BQ019990;BQ671113;BT019806;BU627436;CH471126;DB468563;M13194;M26163;M28650;NG_015839;NM_001166049;NM_001983;NM_202001;XM_005258634;XM_005258635;XM_005258636;XM_005258637 AAA35810;AAA52394;AAA52395;AAC16253;AAH08930;AAH52813;AAL56574;AAM34796;AAV38609;ABM83928;ABM87247;BAB62810;BAG37398;BAG52472;EAW57348;EAW57349;EAW57350;NP_001159521;NP_001974;NP_973730;P07992;XP_005258691;XP_005258692;XP_005258693;XP_005258694 Hs.435981 1673702;1731867;1741675;1742047;1797104;2180884;5109281 D1S1425;ERCC1;GDB:181915;GDB:190019;RH47033;STS-R48186;UniSTS:148575 COFS4;RAD10;UV20 DNA excision repair protein ERCC-1;excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) APPROVED protein-coding ENSG00000012061 HGNC:3433 00533 126380;610758 REVIEWED 1316156 ERCC3 excision repair cross-complementation group 3 ERCC3 is an ATP-dependent DNA helicase that functions in nucleotide excision repair and complements xeroderma pigmentosum group B mutations. It also is the 89 kDa subunit of basal transcription factor 2 (TFIIH) and thus functions in class II transcription. [provided by RefSeq, Jul 2008] 2 2 2 q21 121326339 121363248 - 128014866 128051752 - 127257290 127294176 - 1598911;1598912;1580863;2302855;6480464;6907045;7240710;7246920;7246919;8554872;8699517 11456315;16947863;22572993;22824526;9763211 10024882;10066804;10082552;10214908;10403766;10438593;10447254;10583946;10734143;10801852;10827951;10862089;10866664;10993082;11071939;11259578;11278765;11313499;11335038;11572868;12080057;12372413;12379483;12393749;12393803;12477932;12646563;12820975;12865926;14569024;14614013;14702039;15220921;15375507;15489334;15549133;15893730;16669699;16710452;16835333;16914395;16916636;17081983;17088560;17314511;1741247;17438371;17466626;17509950;17614221;17643375;18187620;18247557;18562274;18676680;18950845;19064572;19106100;1916809;19170196;19237606;19338310;1939271;1956789;19573080;19625176;19692168;19773279;19840190;20004634;20208140;20211142;20301571;20453000;20496165;20522537;20530579;20543986;20813000;2111438;21139048;21157430;21167544;2167179;21672525;21890473;21906983;21971700;21988832;22174317;22234153;22615732;22678362;22902626;22939629;23000965;23083890;23382212;23385459;23602568;23797950;2449431;24609361;24816145;7663514;7926747;8125298;8152490;8157004;8194528;8194529;8202161;8304337;8408834;8521393;8612585;8628270;8652557;8663148;8675009;8692841;8692842;8849451;8876669;8934526;8946909;9012405;9054383;9118947;9121429;9130708;9173976;9184228;9311822;9334327;9400991;9405375;9512541;9570510;9582279;9651670;9765201;9790902;9852112;9874796 2071 F2Z2V4;G3V1S1;H7C309;P19447 ABBA01040210;ABBA01040211;AC110926;AK091500;AK095557;AK127469;AK222465;AK290474;AK300250;AK307338;AK309405;AMYH02004730;AY163769;BC008820;CH471103;M31899;NG_007454;NM_000122;XM_005263618 AAA52396;AAH08820;AAN46739;AAY15069;ABM84728;ABW03630;BAD96185;BAF83163;BAG52374;BAG53083;BAG62016;EAW95311;EAW95312;EAW95313;EAW95314;NP_000113;P19447;XP_005263675 Hs.469872 1662344;1677394;2121583;2179432;5016596 D2S2558;GDB:631802;RH48443;RH69120;SHGC-59959 BTF2;GTF2H;RAD25;TFIIH;XPB BTF2 p89;DNA excision repair protein ERCC-3;DNA repair protein complementing XP-B cells;OTTHUMP00000203828;TFIIH 89 kDa subunit;TFIIH basal transcription factor complex 89 kDa subunit;TFIIH basal transcription factor complex helicase XPB subunit;TFIIH p89;basic transcription factor 2 89 kDa subunit;excision repair cross-complementing rodent repair deficiency, complementation group 3;excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing);xeroderma pigmentosum group B complementing;xeroderma pigmentosum group B-complementing protein;xeroderma pigmentosum, complementation group B APPROVED protein-coding ENSG00000163161 HGNC:3435 00593 133510;601675;610651 REVIEWED 619563 ERBB2 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. 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2064 B4DTR1;F5H1T4;J3KRI9;J3KS21;J3KTI5;J3QL83;J3QLU9;J3QLV2;J3QRJ7;J3QRX1;P04626;X5DNK3 AB025285;AB025286;AB221349;AB221350;ABBA01031858;ABBA01031859;ABBA01031860;AC079199;AC087491;AF177761;AK131568;AK295195;AK296908;AK300321;AK309029;AK313683;AMYH02033386;AMYH02033387;AMYH02033388;AY208911;BC080193;BC110392;BC167147;BI755753;BM678576;CH471152;CN409735;DC346286;HM437238;HY033940;JA362572;JA851628;KJ534831;KJ534832;KJ534964;L29395;M11730;M12036;M16792;M86910;M95667;NG_007503;NM_001005862;NM_001289936;NM_001289937;NM_001289938;NM_004448;NR_110535;S57296;X03363;XM_005257140;XM_006721765;XM_006721766;XM_006721767;XM_006721768 AAA35809;AAA35978;AAA58637;AAA75493;AAC37531;AAD14920;AAD56009;AAF30295;AAI56756;AAI67147;AAO18082;ADN43069;AHW56471;AHW56472;AHW56604;BAE15959;BAE15960;BAG58195;BAG59464;BAG62073;CAA27060;CCA94568;CCQ77584;EAW60595;EAW60596;EAW60597;NP_001005862;NP_001276865;NP_001276866;NP_001276867;NP_004439;P04626;XP_005257197;XP_006721828;XP_006721829;XP_006721830;XP_006721831 Hs.446352 1656309;1679760;1741387;1743181;1795792;5015619;5015798;5015961;5016781 D11S3114;D15S1477;ERBB2_331;GDB:180968;GDB:181407;GDB:285022;RH69066;RH75810;SHGC-67307 CD340;HER-2;HER-2/neu;HER2;MLN 19;NEU;NGL;TKR1 c-erb B2/neu protein;herstatin;metastatic lymph node gene 19 protein;neuro/glioblastoma derived oncogene homolog;neuroblastoma/glioblastoma derived oncogene homolog;p185erbB2;proto-oncogene Neu;proto-oncogene c-ErbB-2;receptor tyrosine-protein kinase erbB-2;tyrosine kinase-type cell surface receptor HER2;v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog);v-erb-b2 avian erythroblastic leukemia viral oncoprotein 2;v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog APPROVED protein-coding ENSG00000141736 HGNC:3430 01281 137215;137800;164870;211980;613659 REVIEWED 1606557 ERCC6L excision repair cross-complementation group 6-like ENCODES a protein that exhibits ATP binding (inferred); DNA binding (inferred); helicase activity (inferred); INVOLVED IN metabolic process (inferred); mitotic cell cycle (inferred); mitotic nuclear division (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 X X X q13.1 71767719 71802070 - 71424507 71458877 - 72204657 72239008 - 6480464 12477932;14702039;15302935;15917148;17218258;17353931;17956945;18418076;19596235;19904549;19946888;20130082;20360068;21139048;21743438;21890473;22505724;22563370;22939629;22990118;23275563;23973328;24250222;24816145 54821 B5MDQ0;Q2NKX8 ABBA01046201;ABBA01046202;ABBA01046203;ABBA01046204;ABBA01046205;ABBA01046206;ABBA01046207;AK000112;AK056494;AK074719;AL135749;AMYH02039699;AW015865;AY121802;BC008808;BC111486;BM454829;BU431499;CH471213;EU069463;JA889683;NG_016328;NM_017669 AAH08808;AAI11487;AAM82750;ABU25227;BAA90952;BAC11160;CCQ89140;EAW71813;EAW71814;NP_060139;Q2NKX8 Hs.47558 1647380;1681833;1721135;1856829 AF020151;DXS6732;G59402;RH98807 FLJ20105;MGC131695;PICH;RAD26L ATP-dependent helicase ERCC6-like;DNA excision repair protein ERCC-6-like;OTTHUMP00000023525;Plk1-interacting checkpoint helicase;SNF2/RAD54 family protein;excision repair cross-complementing rodent repair deficiency complementation group 6 - like;excision repair cross-complementing rodent repair deficiency, complementation group 6-like;excision repair protein ERCC6-like;tumor antigen BJ-HCC-15 APPROVED protein-coding ENSG00000186871 HGNC:20794 10974 300687 VALIDATED 1352562 ERCM1 excision repair complementing defective repair in mouse cells 2076 HGNC:3440 133535 1606875 ERCC6L2 excision repair cross-complementation group 6-like 2 This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014] 9 9 9 q22.32 69079501 69172730 + 98637900 98731122 + 95967620 96014571 + 6480464;8699517;7240710;8554872 11181995;12477932;14702039;16344560;17207965;20873783;24507776 375748 F2Z2R4;H0Y3T7;H7BXQ9;Q5T890;S4R327;X6RE28 ABBA01043604;AK095025;AK307504;AK308131;AK308409;AL133663;AL159167;AL161454;AL389952;AL389953;AMYH02021288;BC022957;BC035183;BC075860;BC140702;BC144261;BG108141;BQ013632;CA425791;CF529128;CH471174;DB153432;KF458935;NG_034107;NM_001010895;NM_020207;XM_005252327 AAH22957;AAH35183;AAI40703;ADQ32469;BAC04478;CAB97530;CAB97543;EAW92635;EAW92636;EAW92637;EAW92639;EAW92640;EAW92641;NP_001010895;NP_064592;Q5T890;XP_005252384 Hs.432364;Hs.732570 1669886;1677572;1688859;1699946;1739115;1855885;2127817;2127929;2128281 D9S1628;RH103581;RH93909;RH94175;SHGC-30570;SHGC-57426;SHGC-57584;STS-N32566;U57804 BMFS2;C9orf102;FLJ37706;MGC30192;MGC43364;RAD26L;SR278 DNA excision repair protein ERCC-6-like 2;DNA repair and recombination protein RAD26-like;OTTHUMP00000021714;RAD26L hypothetical protein;excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2;putative DNA repair and recombination protein RAD26-like;putative repair and recombination helicase RAD26L;stretch responsive protein 278 APPROVED protein-coding ENSG00000182150 HGNC:26922 17362 615667;615715 REVIEWED 1601889 ERCC8 excision repair cross-complementation group 8 This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014] 5 5 5 q12.1 57110728 57181969 - 60169659 60240905 - 60873832 60945078 - 6480464;6907045;7240710;7246919;7246923;8554872 18166977;22824526 10944529;11313499;11782547;12477932;12549820;12732143;14661080;14702039;15489334;15744458;16169070;16246722;16344560;16751180;16916636;16949367;17242193;17297471;17392787;17996703;18270339;18708399;19237606;19295130;19615732;19894250;20100872;20301516;20360068;20496165;20522537;20541997;20575039;21108394;21145461;21550341;21900206;21906983;22032989;22232169;22902626;23562423;23562424;23571135;23583689;7664335;8596535;8876179;8999876;9250659 1161 B3KPW7;B4DGZ9;C9JNT2;G3XAG7;Q13216 ABBA01015806;AC022445;AC104113;AK022657;AK056931;AK226129;AK290726;AK294856;AK304610;AK314511;AL691658;AMYH02011374;AMYH02011375;AY213194;BC009793;BC093802;BC112227;BT020021;CH471123;CR536563;DA169067;NG_009289;NM_000082;NM_001007233;NM_001007234;NM_001290285;U28413 AAA82605;AAH09793;AAO21128;AAV38824;BAF83415;BAG37111;BAG51829;BAG57960;BAG65395;CAG38800;EAW55003;EAW55004;EAW55005;NP_000073;NP_001007234;NP_001007235;NP_001277214;Q13216 Hs.435237 1676844;1694510;1792880;2106995;2118549;2118909;2123039;2151064;2151716;2220548;5022578;5022588;5491854 CKN1__4579;D1S1423;D5S1597E;ERCC8;G16887;G42997;PMC166200P3;RH18023;RH66055;RH79137;RH92349;STS-N49276;UniSTS:484387 CKN1;CSA;UVSS2 Cockayne syndrome WD-repeat protein CSA;DNA excision repair protein ERCC-8;OTTHUMP00000123367;cockayne syndrome WD repeat protein CSA;excision repair cross-complementing rodent repair deficiency, complementation group 8 APPROVED protein-coding ENSG00000049167 HGNC:3439 07523 216400;609412;614621 REVIEWED 1319264 ERCC2 excision repair cross-complementation group 2 The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 19 19 19 q13.3 42660603 42679799 - 45854649 45873845 - 45351391 45370587 - 1331525;1601070;1601068;1601069;1580863;2302855;2317223;2317228;5688739;5688734;5688735;5688737;5688741;5688738;6480464;6907045;7240710;7246920;8552678;7246919;8554872;8699517 11443545;15118671;16458430;17290401;17695467;18544627;19055600;19786980;20150366;21283657;22572993;22824526;7849702;9195225;9714461;9763211 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;22967467;22994751;22994779;23000965;23028453;23028604;23044807;23083890;23098477;23108145;23167354;23221806;23229387;23232694;23267107;23271025;23271362;23317245;23317281;23382212;23390054;23397959;23435956;23464476;23494240;23534729;23593158;23602568;23619945;23669291;23672414;23680703;23700156;23716550;23740134;23771356;23800062;23884229;23891004;23959014;23973729;23996617;24023723;24083550;24101192;24140460;24157118;24234258;24250222;24254311;24258710;24260311;24330540;24338713;24347488;24362511;24390613;24402573;24418926;24443924;24486506;2449431;24504678;24556168;24590266;24609361;24652592;24868140;24933002;2835663;7585650;7663514;7825573;7920640;8152490;8213812;8413672;8571952;8612585;8628270;8652557;8663148;8675009;8692841;8692842;8786141;8849451;8876669;8934526;8946909;9054383;9101292;9118947;9121429;9130708;9184228;9238033;9311822;9334327;9405375;9512541;9570510;9582279;9651670;9758621;9765201;9766681;9771713;9790902;9852112 2068 A8MX75;B4E0F6;E7EVE9;K7EIT8;K7EKF3;K7ENL1;P18074 ABBA01040922;ABBA01040923;AK092872;AK130849;AK303358;AL535248;AMYH02036198;AY092780;BC008346;BC108255;BC110522;BC110523;BG719746;BM769772;BM988142;BT006883;BX376468;CH471126;CN388234;DA409300;L47234;NG_007067;NM_000400;NM_001130867;X52221;X52222;XM_005258639 AAI08256;AAI10523;AAI10524;AAL48323;AAM45142;AAP35529;BAC85446;BAG64418;CAA36463;CAA36464;EAW57341;EAW57342;NP_000391;NP_001124339;P18074;XP_005258696 Hs.487294 1340751;1675547;1744545;5015891;5106773;5120656;5120658;5120660;5120662;5120664;5491603 D19S908;GDB:364012;GDB:364015;GDB:364018;GDB:364021;GDB:364025;GDB:364029;GDB:512988;MARC_23995-23996:1029525921:1;RH15967;RH80858 BTF2 p80;COFS2;CXPD;EM9;MGC102762;MGC126218;MGC126219;TFIIH;TFIIH p80;TTD;XPD DNA excision repair protein ERCC-2;DNA repair protein complementing XP-D cells;OTTHUMP00000045860;OTTHUMP00000045861;OTTHUMP00000045862;OTTHUMP00000045863;TFIIH 80 kDa subunit;TFIIH basal transcription factor complex 80 kDa subunit;TFIIH basal transcription factor complex helicase XPB subunit;TFIIH basal transcription factor complex helicase XPD subunit;TFIIH basal transcription factor complex helicase subunit;basic transcription factor 2 80 kDa subunit;excision repair cross-complementing rodent repair deficiency, complementation group 2;xeroderma pigmentosum complementary group D;xeroderma pigmentosum group D-complementing protein APPROVED protein-coding ENSG00000104884 HGNC:3434 00530 126340;278730;601675;610756 REVIEWED 1350156 ERDA1 expanded repeat domain, CAG/CTG 1 9398837;9774773 9030 AB007820 HGNC:3442 603279 7250645 ERCC6-PGBD3 ERCC6-PGBD3 readthrough This locus represents naturally-occurring readthrough transcription between the neighboring ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6) and PGBD (piggyBac transposable element derived 3) genes on chromosome 10. The readthrough transcripts encode a fusion protein that shares sequence with the product of each individual gene. The encoded protein may function in DNA repair and in the innate immune response. It binds to MER85 sequences in DNA, and may interact with transcription factors to modulate gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] 10 10 q11 50723151 50747584 - 49515105 49539538 - 8554872 12477932;16344560;18369450;21143350;22483866;23028371;23369858 101243544 A8K4Q3;E7EV46;Q8N328 ABBA01041070;AC073366;AK291018;AL138760;AMYH02022985;BC034479;DA579401;NG_009442;NM_001277058;NM_001277059 AAH34479;BAF83707;NP_001263987;NP_001263988 Hs.49063;Hs.654449 1685984;1736100;1851797;2172666 D10S1378E;D10S1553;RH26695;RH44808 CPFP;CSB-PGBD3 CSB-PGBD3 fusion protein;CSB-piggyBac transposable element derived 3 fusion;Cockayne syndrome B-piggyBac fusion protein protein-coding ENSG00000258838 HGNC:48347 REVIEWED 1323738 ERF Ets2 repressor factor Members of the ETS family of transcription factors, such as ERF, regulate cell proliferation and differentiation. They share a highly conserved DNA-binding domain, the ETS domain, that recognizes the sequence GGAA/T (de Castro et al., 1997 [PubMed 9192842]). For further information on ETS transcription factors, see ETS1 (MIM 164720).[supplied by OMIM, Mar 2008] 19 19 19 q13 39552513 39560105 - 42751717 42759309 - 42247565 42255157 - 1580863;6480464;7240710;8554872;8699517 10330152;11748221;12062430;12477932;12533699;14611815;14678752;14729966;15057824;15489334;16964243;17081983;17525531;17699159;19471022;21890473;22198386;22990118;23000965;23354439;7588608;9136988;9192842 2077 M0QX79;M0QXN0;P50548 AB209271;ABBA01040842;ABBA01040843;AC006486;AK297666;AK300627;AK314278;AMYH02036144;AMYH02036145;AW005463;BC022231;BM905776;CH471126;DC299706;DC371332;NM_001301035;NM_006494;U15655;U58535;XM_005258643;XM_005258644;XM_006723079;XM_006723080 AAA86686;AAD11987;AAH22231;ABM84494;ABM87816;BAD92508;BAG36938;BAH12646;BAH13317;EAW57116;EAW57117;EAW57118;NP_001287964;NP_006485;P50548;XP_005258700;XP_005258701;XP_006723142;XP_006723143 Hs.655969 1648244;1677716;2107061;2131552 ERF__7603;RH11603;RH79119;RH80814 CRS4;PE-2;PE2 ETS domain-containing transcription factor ERF APPROVED protein-coding ENSG00000105722 HGNC:3444 09942 600775;611888 VALIDATED 730898 EREG epiregulin Epiregulin is a member of the epidermal growth factor family. Epiregulin can function as a ligand of EGFR (epidermal growth factor receptor), as well as a ligand of most members of the ERBB (v-erb-b2 oncogene homolog) family of tyrosine-kinase receptors. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 72591116 72614730 + 75230860 75254477 + 74365143 74388760 + 1580863;2317963;6480464;6484113;6907045;8554872 15982853 10681561;12477932;12702554;12898511;14572630;14581411;15274392;15474502;16888076;17429393;17962208;18079685;18292222;18497965;18821565;18835871;18948081;19138957;21161326;21769422;22170233;22508389;22747683;22916037;22964644;23074094;23383108;23625463;23671122;23826119;23829318;23885463;24092824;24330607;24335920;24748662;24800946;24812054;9337852;9419975;9553109;9990076 2069 O14944 ABBA01022994;AC021180;AK314959;AMYH02009476;AMYH02009477;AMYH02009478;BC035806;BC136404;BC136405;CH471057;CR541887;D30783;NM_001432 AAI36405;AAI36406;BAA22146;BAG37463;CAG46685;EAX05709;NP_001423;O14944 Hs.115263 2108065;2117724;2187452;5015619;5037552 D11S3114;D8S2279;EREG__7602;SHGC-56714;SHGC-67955 ER OTTHUMP00000160472;proepiregulin APPROVED protein-coding ENSG00000124882 HGNC:3443 03638 602061 VALIDATED 5132500 ERHP1 enhancer of rudimentary homolog (Drosophila) pseudogene 1 7 7 q34 139218940 139219707 + 139534194 139534961 + 12853948 100507125 ABBA01001194;AC005531;AMYH02016890;NG_029010 pseudo HGNC:41916 INFERRED 1605678 ERGIC2 ERGIC and golgi 2 ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008] 12 12 12 p11.22 34639329 34679889 - 29493579 29534143 - 29340646 29381210 - 6480464 11445006;12477932;12932305;14702039;15308636;15489334;16989575;17980171;19946888;20360068;21139048;21890473;21906983;21963094;22190034;23000965;24303950;8125298;8889548 51290 F8VPA6;F8VR88;F8VRW9;F8VUZ2;F8W0R1;H0YHJ8;H0YHS0;H0YI50;H0YI58;Q86TD3;Q96RQ1 ABBA01068072;ABBA01068073;ABBA01068074;AC009318;AF183410;AF216751;AF302767;AK074520;AK222799;AL834128;AMYH02026259;BC000887;BC064522;BC107794;BF681475;BI547753;BU675240;CH471094;CQ782452;NM_016570 AAF61208;AAG09679;AAH00887;AAI07795;AAK77355;ABZ92333;BAC11037;BAD96519;CAD89902;CAF85738;EAW96592;EAW96593;EAW96594;NP_057654;Q96RQ1 Hs.339453 1657471;1678883;1685792;1699138;1700296;1789086;2109713;2186585;5022651;5096039;5124844 D11S2921;D12S2012;D5S2655;G65678;PTX1_9699;RH103145;RH103767;RH39806;RH91177;RH93315;STS-AA019731 CDA14;Erv41;MGC111152;PTX1;cd002 CD14 protein;OTTHUMP00000240789;OTTHUMP00000240795;endoplasmic reticulum-Golgi intermediate compartment protein 2 APPROVED protein-coding HGNC:30208 17932 612236 VALIDATED 6480990 ERHP2 enhancer of rudimentary homolog (Drosophila) pseudogene 2 6 6 53881282 53881575 - 54016484 54016777 - 100874403 ABBA01050522;AL139389;AMYH02013753;NG_032374 pseudo HGNC:41917 INFERRED 1320463 ERH enhancer of rudimentary homolog (Drosophila) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN nucleobase-containing compound metabolic process (inferred); osteoblast differentiation (inferred); pyrimidine nucleoside metabolic process (inferred); FOUND IN midbody; INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 14 14 14 q24.1 49910979 49929160 - 69846840 69865021 - 69380123 69398304 - 6480464 12477932;15166316;15489334;15635413;15670829;15794639;16169070;17353931;17444515;17620599;18029348;18081865;18500978;19322201;19460752;19710015;19928837;20360068;20564261;20811636;21139048;21319273;21832049;21890473;21900206;21906983;22174317;22505724;22704934;22990118;23000965;23022380;23084401;23145069;23236152;23246001;24015320;24078386;24337577;24457600;24778252;25015289;8786099;9074495 2079 G3V279;P84090 ABBA01030829;ABBA01030830;AK130850;AK312186;AL157996;AMYH02029434;BC014301;BC071709;BT006877;CH471061;CR450298;CR542178;D85758;NM_004450;U66871 AAC51172;AAH14301;AAH71709;AAP35523;BAA12865;BAG35119;CAG29294;CAG46975;EAW80989;EAW80990;NP_004441;P84090 Hs.509791 1669137;2142528 D14S1224;RH65950 FLJ27340 DROER;OTTHUMP00000245828;OTTHUMP00000245829;enhancer of rudimentary homolog protein-coding HGNC:3447 09026 601191 VALIDATED 1607015 ERGIC1 endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 168294145 168412842 + 172261223 172379688 + 172834220 172952685 + 6480464;8554872 10574461;10931946;11230166;12477932;14702039;15308636;15489334;18781797;19724895;19851296;19946888;20198315;20379614;21139048;21890473;21906983;21963094;22190034;22761906;22939629;23648065;24024966;24332808;24457600;25027693 57222 F2Z2P5;F2Z2U2;F2Z3A2;F2Z3Q5;H0YAV2;H0YBZ3;Q969X5 AB033007;ABBA01044036;ABBA01044037;ABBA01044038;AC008429;AC110011;AF267855;AK000752;AK026049;AK027085;AK097183;AK303453;AL133060;AL136753;AMYH02012760;BC012766;BC014490;CD365875;CH471062;CR533474;DB443891;NM_001031711;XM_006714892;XM_006714893;XM_006714894 AAG44724;AAH12766;AAH14490;BAA86495;BAG64498;CAB66687;CAG38505;EAW61422;EAW61423;NP_001026881;Q969X5;XP_006714955;XP_006714956;XP_006714957 Hs.509163 1671449;1671451;1740359;1740387;1740501;1757979;1780550;1855163;2114473;5016478;5022200 A006I32;D21S1804;D5S2190E;D5S2211E;D5S2294E;G20852;GDB:434012;L18426;RH69563;SHGC-147022;bac51086S ERGIC-32;ERGIC32;FLJ39864;KIAA1181;MGC14345;NET24 ER-Golgi intermediate compartment 32 kDa protein;OTTHUMP00000161076;endoplasmic reticulum-Golgi intermediate compartment protein 1;endoplasmic reticulum-golgi intermediate compartment 32 kDa protein APPROVED protein-coding ENSG00000113719 HGNC:29205 13836 REVIEWED 1348469 ERG v-ets avian erythroblastosis virus E26 oncogene homolog This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014] 21 21 21 q22.3 24949807 25231400 - 39739183 40033704 - 38367261 38661780 - 1580863;6480464;8554872 10574717;10830953;10949935;11076863;11278640;11472898;11791185;12449421;12477932;12554743;14693372;15068237;15302935;15489336;15922298;15988032;16140924;16215946;16275934;16303180;16344560;16381901;16575875;16820092;16954520;17032499;17143509;17289661;17390040;17584912;17632455;17646667;17654723;17922029;18065961;18195090;18474293;18483239;18505969;18519767;18519769;18519826;18648544;18676740;18694509;18922926;19029822;19040532;19147579;19151660;19156837;19190343;19205910;19223501;19339269;19359602;19396154;19407851;19465903;19494719;19555438;19584163;19647299;19649210;19664128;19716227;19825963;19933109;19940115;20018353;20068566;20104229;20118910;20160063;20303538;20308669;20308673;20379614;20442300;20473283;20478527;20526358;20546020;20562851;20570349;20585344;20590547;20651988;20662065;20676125;20693982;20713528;20798944;20800881;20841507;20860828;20966395;21040948;21062978;21167530;21169414;21170267;21178509;21183741;21242973;21249148;21317715;21383613;21463633;21474234;21499238;21536859;21559405;21575865;21584900;21600800;21623182;21664289;21669963;21676887;21677539;21680704;21707844;21731703;21738478;21743434;21743959;21791629;21802835;21832049;21835957;21937078;21946329;22076164;22080055;22221250;22235125;22245323;22300588;22313860;22331093;22337883;22463702;22488406;22505341;22615383;22674214;22696228;22705054;22716285;22736790;22745159;22767266;22821757;22860005;22869147;22886792;22899295;22922762;22930729;22993300;23027626;23158212;23250622;23300998;23319000;23319146;23327922;23334893;23348902;23352841;23380710;23381693;23390522;23426182;23447416;23459095;23462600;23472063;23480797;23535644;23545904;23546179;23554889;23555854;23578236;23642739;23653096;23686669;23701505;23703293;23728339;23774169;23781502;23794398;23797726;23817021;23849895;23850495;23856515;23887154;23898196;23913826;23918819;23974202;24006850;24064621;24072102;24115221;24195515;24292212;24297949;24334129;24380696;24418414;24435928;24591637;24705308;24789172;24816145;24909781;25043157;25043536;3274086;3299708;3476934;8040301;8076344;8187069;8290279;8502479;8510931;9334186;9681824 2078 A8MX39;A8MZ24;B4DN83;B4DVX5;B4E3C5;B5MDW0;P11308 AA706319;ABBA01011092;ABBA01011093;ABBA01011094;ABBA01011095;AF015313;AK297807;AK300395;AK301277;AK303518;AK304662;AK309469;AMYH02037814;AP001035;AP001036;AP001037;AP001038;AP001422;AP001423;AP001426;AY204740;AY204741;AY204742;AY204743;BC040168;BE245360;BF431907;CH471079;DA850637;DC356222;DC394344;DQ831522;EU090248;JA902565;JB759374;JC009132;JC009134;JC261276;JC261278;JC261280;JC261282;KF457284;KF457285;KF457287;KF457289;KF510558;KF510562;M17254;M21535;M21536;NG_029732;NM_001136154;NM_001136155;NM_001243428;NM_001243429;NM_001243432;NM_001291391;NM_004449;NM_182918;NR_111949;R82102;S68130 AAA35811;AAA52398;AAB29724;AAB65763;AAH40168;AAP41719;AAP41720;ABZ91999;BAG60145;BAG62127;BAG62837;BAG64546;BAG65437;CAL37450;CCV19969;CDI44159;CDL93500;CDL93501;CDM55453;CDM55454;CDM55455;CDM55456;EAX09679;EAX09680;NP_001129626;NP_001129627;NP_001230357;NP_001230358;NP_001230361;NP_001278320;NP_004440;NP_891548;P11308 Hs.473819 1334789;1649498;1650714;1653645;1669401;1679920;1680535;1683835;1685141;1699638;1707270;1714225;1720347;1730680;1741781;1741783;1741785;1741787;1741789;1742135;1751229;1755975;1774178;1775276;1778041;1854423;2113696;2118853;2126146;2137732;2142043;2143315;2147694;2152388;2160295;2167748;2172578;5095044;7186261 CH241-100G23_SP6;D21S1255;D21S1809;D21S338;G29039;G29040;G29051;G34653;G35296;GDB:185165;GDB:185166;GDB:185167;GDB:185168;GDB:185169;GDB:192319;MMA2H11;RH103423;RH119723;RH123924;RH17674;RH76199;RH93894;RH98520;SHGC-105119;SHGC-11415;SHGC-11417;SHGC-11418;SHGC-11419;SHGC-11422;SHGC-11424;SHGC-11425;SHGC-11427;SHGC-142795;SHGC-52002;SHGC-52106;SHGC-52107;SHGC-79236;SHGC-9585 erg-3;p55 OTTHUMP00000115966;OTTHUMP00000115967;OTTHUMP00000115968;OTTHUMP00000115969;OTTHUMP00000115970;OTTHUMP00000115971;OTTHUMP00000115972;OTTHUMP00000208036;OTTHUMP00000225518;TMPRSS2-ERG prostate cancer specific;TMPRSS2/ERG fusion;ets-related;transcriptional regulator ERG;transcriptional regulator ERG (transforming protein ERG);transforming protein ERG;v-ets avian erythroblastosis virus E26 oncogene related;v-ets erythroblastosis virus E26 oncogene homolog;v-ets erythroblastosis virus E26 oncogene like;v-ets erythroblastosis virus e26 oncogene like (avian) APPROVED protein-coding ENSG00000157554 HGNC:3446 01298 165080 REVIEWED 1605015 ERI1 exoribonuclease 1 ENCODES a protein that exhibits 3'-5' exonuclease activity; histone pre-mRNA stem-loop binding (ortholog); ribosome binding (ortholog); INVOLVED IN nucleic acid phosphodiester bond hydrolysis; rRNA 3'-end processing (ortholog); FOUND IN cytoplasm; nucleolus; histone pre-mRNA 3'end processing complex (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; copper(2+) sulfate 8 8 8 p23.1 7988552 8019088 + 8860314 8890849 + 9002804 9033339 + 6480464 12477932;14536070;14961122;15451662;15489334;16912046;17135487;18172165;20379614;21139048;21890473;21906983;21963094;22379092;22505724;22863883;23049088;23329046;24250222;24816145 90459 E5RIV7;E5RJM3;Q8IV48 ABBA01026910;AC087579;AC087763;AK024646;AK226180;AK291062;AK301506;AL137679;AMYH02017401;AV709794;AY310909;BC035279;CH471157;NM_153332;XM_005272401;XM_006716264 AAH35279;AAQ21219;ABM81767;ABM84922;BAF83751;BAG63016;CAB70871;EAW65568;EAW65569;EAW65570;NP_699163;Q8IV48;XP_005272458;XP_006716327 Hs.20000 1679738;2118365;5020948 G35510;RH92586;STS-W44566 3'HEXO;HEXO;MGC35395;THEX1 3' exoribonuclease;3'-5' exonuclease ERI1;3'-5' exoribonuclease 1;Eri-1 homolog;OTTHUMP00000159677;OTTHUMP00000224524;enhanced RNAi three prime mRNA exonuclease homolog 1;histone mRNA 3' end-specific exonuclease;histone mRNA 3'-end-specific exoribonuclease;histone mRNA 3'-exonuclease 1;three prime histone mRNA exonuclease 1;three prime mRNA exonuclease 1 protein-coding ENSG00000104626 HGNC:23994 11784 608739 VALIDATED 6481108 ERI3-IT1 ERI3 intronic transcript 1 (non-protein coding) 1 p34.1 44222595 44244283 - 100874278 ABBA01050927;ABBA01050928;ABBA01050929;AL035417;AMYH02000915;BX089928;DB453456;NR_046817;NR_110056 Hs.132497 ncrna HGNC:41431 VALIDATED 1605450 ERICH1-AS1 ERICH1 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 8 p23.3 797314 1220959 + 687587 1087777 + 737605 1137777 + 8554872 12477932 619343 P0C838 ABBA01007281;ABBA01007282;ABBA01007283;ABBA01007284;ABBA01007285;ABBA01007286;ABBA01007287;AC026950;AC100797;AC110288;AC120035;AC129915;AC209538;AC221020;AF067845;AMYH02017219;AMYH02017220;AMYH02017221;AMYH02017222;AMYH02017223;BC022082;BC038783;HG500795;HG500797;HY026606;HY053749;KC877183;KC877185;KC877190;KC877191;KC877196;KF458661;NR_073397 P0C838 Hs.667939;Hs.722154 1335717;1658944;1697324;1707642;1709676;1716007;1730922;1765747;1786692;2129295;2150965 D8S462;D8S504;D8S7;RH102159;RH122747;SHGC-149177;SHGC-154284;SHGC-81982;SHGC-86323;STS-R36869;WI-21091 C8orf68 ERICH1 antisense RNA 1 (non-protein coding);chromosome 8 open reading frame 68 APPROVED ncrna HGNC:32290 VALIDATED 1317746 ERGIC3 ERGIC and golgi 3 INVOLVED IN vesicle-mediated transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; all-trans-retinoic acid; arsenite(3-) 20 20 20 pter-q12 30878102 30893718 + 34129778 34145405 + 35542029 35557634 + 1580863;6480464;8554872 10810093;11780052;12477932;12747765;14702039;15308636;15489334;16303743;17020792;17207965;18781797;19946888;20686565;21139048;21890473;21906983;21963094;22190034;22939629;23000965;23212913;23374247;24097068;24250222;24816145 51614 A2TJK5;A6PVJ2;H0Y5K5;H0Y621;H0Y6Z0;H0Y802;Q9Y282 ABBA01019157;ABBA01019158;AF077030;AF091085;AF116614;AF151812;AF308298;AK074550;AK096484;AK300916;AL121586;AL161963;AMYH02037001;BC009765;BC014014;BU528333;CA489637;CH471077;EF206690;FO393401;NM_015966;NM_198398;XM_006723804;XM_006723805 AAC72954;AAD27763;AAD34049;AAF71038;AAG48265;AAH09765;AAH14014;ABM92879;ADQ32757;BAC11054;BAG62548;CAB89412;CAI42842;CAI42843;CAI42845;CAO03348;CAO03349;EAW76199;EAW76200;NP_057050;NP_938408;Q9Y282;XP_006723867;XP_006723868 Hs.472558 1651838;1682345;1693524;1802004;1818410;1818920;1820102;1824768;1826850;1827368;1831910;1833018;1833986;1836450;1843576;1974518;1974520;1974522;1974524;1974526;1974528;1974530;1974532;1974534;1974536;1974538;1974540;1974542;1974544;1974546;1974548;1974550;1974552;1974554;1974556;1974558;1974560;1974562;1974564;1974566;1974568;1974570;1974572;1974574;1974576;1974578;1974580;1974582;1974584;1974586;1974588;1974590;1974592;1974594;1974596;1974598;1974600;1974602;1974604;1974606;1974608;1974610;1974612;1974614;1974616;1974618;1974620;1974622;1974624;1974626;1974628;1974630;1974632;1974634;1974636;1974638;1974640;1974642;1974644;1974646;1974648;1974650;1974652;1974654;1974656;1974658;2132187;2191535;2215406;2215408;2215410;2215412;2215414;2215416;2215418;2215420;2215422;5015619;5024413 D11S3114;D20S1029;ECD01883;ECD10263;ECD10524;ECD11124;ECD13482;ECD14540;ECD14799;ECD17093;ECD17650;ECD18140;ECD19387;ECD22997;L17877;MARC_26120-26121:1030366872:1;REN58145;REN58146;REN58147;REN58148;REN58149;REN58150;REN58151;REN58152;REN58153;REN58154;REN58155;REN58156;REN58157;REN58158;REN58159;REN58160;REN58161;REN58162;REN58163;REN58164;REN58165;REN58166;REN58167;REN58168;REN58169;REN58170;REN58171;REN58172;REN58173;REN58174;REN58175;REN58176;REN58177;REN58178;REN58179;REN58180;REN58181;REN58182;REN58183;REN58184;REN58185;REN58186;REN58187;REN58188;REN58189;REN58190;REN58191;REN58192;REN58193;REN58194;REN58195;REN58196;REN58197;REN58198;REN58199;REN58200;REN58201;REN58202;REN58203;REN58204;REN58205;REN58206;REN58207;REN58208;REN58209;REN58210;REN58211;REN58212;REN58213;REN58214;REN58215;RH93363;SHGC-58582;STS-R93394;stSG636694;stSG636695;stSG636696;stSG636697;stSG636698;stSG636699;stSG636700;stSG636701;stSG636702 C20orf47;CGI-54;Erv46;NY-BR-84;PRO0989;SDBCAG84;dJ477O4.2 OTTHUMP00000030758;OTTHUMP00000030760;OTTHUMP00000030762;OTTHUMP00000196100;endoplasmic reticulum-Golgi intermediate compartment protein 3;endoplasmic reticulum-localized protein ERp43;serologically defined breast cancer antigen 84;serologically defined breast cancer antigen NY-BR-84 protein-coding ENSG00000125991 HGNC:15927 15306 VALIDATED 1605306 ERI2 ERI1 exoribonuclease family member 2 ENCODES a protein that exhibits exonuclease activity (inferred); nucleic acid binding (inferred); zinc ion binding (inferred); INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; amiodarone 16 16 16 p12.3 20101413 20127694 - 20791515 20817798 - 20780193 20806473 - 6480464;8554872 10819331;12477932;17135487;18187620;19913121;20628086 112479 A8K979;H3BN77 AB040937;ABBA01028286;ABBA01028287;AC004381;AK127391;AK292594;AK304347;AMYH02031666;BC010503;BX437401;CH471228;KC877592;NM_001142725;NM_080663 A8K979;AAC31669;AAH10503;ABM85927;ABM85928;BAA96028;BAC86956;BAF85283;BAG65191;EAW66836;EAW66837;NP_001136197;NP_542394 Hs.248437 1651177;1669992;1695482 SHGC-60682;SHGC-60770;SHGC-68627 EXOD1;KIAA1504;MGC16943;ZGRF5 ERI1 exoribonuclease 2;OTTHUMP00000162295;enhanced RNAi three prime mRNA exonuclease homolog 2;exonuclease domain containing 1;exonuclease domain-containing protein 1;exoribonuclease 2;zinc finger, GRF-type containing 5 APPROVED protein-coding ENSG00000196678 HGNC:30541 14456 VALIDATED 6903373 ERICH2 glutamate-rich 2 INTERACTS WITH titanium dioxide (ortholog) 2 2 2 q31.1 165257006 165272201 + 171627528 171655481 + 170771018 170798971 + 6480464 12477932 285141 A1L162 AA401652;ABBA01014918;AC007405;AMYH02005209;AX972293;BC127676;BC150546;BG215457;BQ269226;BQ429225;CH471058;NM_001289947;NM_001290030;NM_001290031;NR_110644;XM_001714892;XM_003960300;XM_209489 A1L162;AAI27677;AAI50547;CAF17401;EAX11231;NP_001276876;NP_001276959;NP_001276960;XP_001714944;XP_003960349;XP_209489 Hs.443729;Hs.567958 glutamate-rich protein 2;uncharacterized protein LOC285141 protein-coding HGNC:44395 VALIDATED 1318310 ERI3 ERI1 exoribonuclease family member 3 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 1 1 1 p32 42970065 43104133 - 44686742 44821315 - 44221070 44355643 - 6480464 11571277;12477932;16344560;18854154;19447967;19913121;20628086;21139048;21890473;21906983;22939629;23000965;24250222;8619474;9110174 79033 B4DEX5;B4DN03;F6QUN3;F6UGJ8;H0Y4B0;O43414 ABBA01050925;ABBA01050926;ABBA01050927;ABBA01050928;ABBA01050929;AC004254;AF007157;AK026596;AK290567;AK293833;AK297708;AL035417;AL390776;AMYH02000915;AMYH02000916;AU125565;BC001072;BC004456;BC144384;BG323839;BI765887;CH471059;DC413416;NM_001301698;NM_001301699;NM_001301700;NM_001301701;NM_024066;XM_005271184;XM_005271186;XM_005271187;XM_005271188;XM_005271189;XM_006710891 AAC04618;AAC19158;AAH01072;AAH04456;AAI56813;BAF83256;BAG57236;BAG60065;EAX07042;EAX07043;EAX07044;EAX07045;NP_001288627;NP_001288628;NP_001288629;NP_001288630;NP_076971;O43414;XP_005271241;XP_005271243;XP_005271244;XP_005271245;XP_005271246;XP_006710954 Hs.731413 1668296;1684983;1712050;1720369;1732794;1732906;1767285;1854580;2127035;2142384;2154782;7186682 AL009982;D1S1251;D1S1317;D1S190;G16324;G34816;G54005;RH123936;RH47461;RH65633;RH93060 FLJ22943;MGC2683;PINT1;PRNPIP ERI1 exoribonuclease 3;H_RG158K20.1;OTTHUMP00000008952;OTTHUMP00000008953;OTTHUMP00000008983;OTTHUMP00000008984;WUGSC:H_RG158K20.1;enhanced RNAi three prime mRNA exonuclease homolog 3;exoribonuclease 3;prion interactor 1;prion protein interacting protein;prion protein-interacting protein APPROVED protein-coding ENSG00000117419 HGNC:17276 15175 609917 VALIDATED 1603912 ERICH3 glutamate-rich 3 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; ethyl methanesulfonate 1 1 1 p31.1 73279099 73384675 - 75033795 75139422 - 74568111 74674329 - 6480464;8554872 12477932;20379614 127254 Q5RHP9;R4GMY5 ABBA01074425;AC096950;AI028350;AK127470;AL833250;AL834414;AMYH02001274;BC035114;BC044605;BC073916;BI832067;BX470253;CH471059;CR749349;NM_001002912;R61866;XM_005270450;XM_006710348;XM_006710349;XM_006710350;XM_006710351 AAH73916;BAC86994;CAD39076;CAH18202;EAX06413;EAX06414;NP_001002912;Q5RHP9;XP_005270507;XP_006710411;XP_006710412;XP_006710413;XP_006710414 Hs.531182 1336702;1677768;1693078;1722981;1727011;1756759;1781816;2151863 AL009754;AL034267;D1S2761;G60590;G62903;RH92319;SHGC-143889;SHGC-156141 C1orf173;DKFZp547I048;DKFZp761G1720;DKFZp781L0319;MGC90412;RP11-653A5.1 OTTHUMP00000011196;glutamate-rich protein 3;hypothetical protein LOC127254;uncharacterized protein C1orf173 APPROVED protein-coding ENSG00000178965 HGNC:25346 16816 VALIDATED 1606129 ERICH5 glutamate-rich 5 INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cyclosporin A 8 8 8 q22.2 95262686 95291703 + 99076750 99105838 + 98064522 98093610 + 6480464 12477932;14702039;20208534;21906983 203111 Q6P6B1 ABBA01037532;AI697720;AK096872;AMYH02018479;AMYH02018480;AP003352;AP003439;BC062359;CH471060;NM_001170806;NM_173549 AAH62359;BAC04880;EAW91772;EAW91773;NP_001164277;NP_775820;Q6P6B1 Hs.171455 1786704 SHGC-154724 C8orf47;FLJ39553 OTTHUMP00000227641;glutamate-rich protein 5;hypothetical protein LOC203111;uncharacterized protein C8orf47 APPROVED protein-coding ENSG00000177459 HGNC:26823 08802 VALIDATED 8548191 ERICH3-AS1 ERICH3 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 1 1 p31.1 75042917 75091782 + 74577233 74626098 + 8554872 101927320 ABBA01074425;AC096950;AMYH02001274;BX092187;BX470253;CR627203;LK938594;NR_121670;NR_121671;XR_246345;XR_248790;XR_250762;XR_426713;XR_431186 Hs.662589 ncrna ENSG00000234497 HGNC:41093 VALIDATED 1605578 ERICH6 glutamate-rich 6 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH dibutyl phthalate (ortholog); rosiglitazone (ortholog); troglitazone (ortholog) 3 3 3 q25.1 148790766 148834837 - 150377672 150421786 - 150659885 150703990 - 6480464;8554872 12477932;14702039;19240061 131831 C9J7L7;C9JVV3;Q7L0X2 ABBA01058923;AC011317;AK093375;AL834214;AMYH02007890;BC029577;BC036239;CH471052;HC007164;NM_152394;XM_005247119;XM_005247120;XM_006713498 AAH29577;AAH36239;BAC04146;CAD38896;CBH19387;EAW78824;EAW78825;EAW78826;NP_689607;Q7L0X2;XP_005247176;XP_005247177;XP_006713561 Hs.147128 1689165;1696664;1753831 RH93883;SHGC-107995;SHGC-82971 C3orf44;ERICH6A;FAM194A;MGC39662 OTTHUMP00000164936;OTTHUMP00000216694;family with sequence similarity 194, member A;glutamate-rich 6A;glutamate-rich protein 6;hypothetical protein LOC131831 APPROVED protein-coding ENSG00000163645 HGNC:28602 17543 VALIDATED 2299179 ERICH4 glutamate-rich 4 19 19 19 q13.2 38748919 38750526 + 41949063 41950670 + 41443158 41444765 + 15057824 100170765 A6NGS2 ABBA01040810;AC011526;AMYH02036134;CB047448;NM_001130514 A6NGS2;NP_001123986 Hs.649452 C19orf69 glutamate-rich protein 4;hypothetical protein LOC100170765;uncharacterized protein C19orf69 APPROVED protein-coding ENSG00000204978 HGNC:34497 PROVISIONAL 1606127 ERICH6B glutamate-rich 6B 13 13 13 q14.13 27170108 27244549 - 46115432 46189874 - 45541297 45615739 - 12477932;14702039;18976975;20379614 220081 Q5W0A0 ABBA01050977;AK057244;AL139326;AMYH02027976;AMYH02027977;BC131494;CH471075;NM_182542 AAI31495;BAB71393;EAX08745;NP_872348;Q5W0A0 Hs.668747 1758659;1912834 REN27226;SHGC-149095 FAM194B;FLJ32682 OTTHUMP00000018353;family with sequence similarity 194, member B;glutamate-rich protein 6B;hypothetical protein LOC220081 APPROVED protein-coding ENSG00000165837 HGNC:26523 08729 PROVISIONAL 1602977 ERICH1 glutamate-rich 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; dioxygen 8 8 8 p23.3 579581 644934 - 606733 681226 - 637531 731226 - 6480464;8554872 12477932;14702039;15489334;18029348;21139048;21693764;24250222;24816145 157697 E5RHA3;H0YB25;H0YBT6;Q86X53 ABBA01007280;ABBA01007281;AC090691;AC100797;AF161437;AK055649;AK125470;AK290264;AK297476;AL833324;AMYH02017218;BC016017;BC046243;BX647093;CH471181;NM_207332;XM_005266020;XM_006716234;XM_006716235 AAF28997;AAH46243;ACE86757;ACE87445;BAF82953;BAG59897;EAW51465;EAW51466;EAW51467;NP_997215;Q86X53;XP_005266077;XP_006716297;XP_006716298 Hs.655310 1666478;1680721;1699284;1786748 RH103225;RH68120;RH92239;SHGC-155342 HSPC319 OTTHUMP00000159439;glutamate-rich protein 1 protein-coding ENSG00000104714 HGNC:27234 14105 PROVISIONAL 1323005 ERCC6 excision repair cross-complementation group 6 This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. [provided by RefSeq, Mar 2013] 10 10 10 q11.23 44250656 44333241 - 50662526 50747169 - 49454480 49539123 - 1580863;6480464;6907045;7240710;7246919;7246923;8554872;8699517 18166977;22824526 10196384;10447254;10498399;10564257;10739753;10767341;10882116;10944529;11003660;11313499;11809892;12060667;12095617;12121485;12419226;12477932;12560492;12606941;1339317;1349298;14702039;15164054;15226310;15231748;15486090;15548521;15746040;16107709;16128801;16246722;16258177;16344560;16399771;16492920;16537713;16565220;16601682;16603771;16751180;16754848;16772382;16916636;16964243;17119055;17313739;17438655;17567611;17575242;17626041;17707230;17728339;17854076;17855454;17933579;17996703;18026184;18183039;18185538;18270339;18369450;18446857;18628313;18656484;18676680;18708399;18767034;18784753;18789574;18854777;19015224;19064572;19074885;19116388;19132999;19170196;19179336;19221478;19237606;19270000;19444904;19471022;19481676;1951442;19573080;19580815;19625176;19626602;19661089;19692168;19773279;19789190;19878615;19894250;19948975;20044625;20100872;20122405;20181933;20301516;20379614;20453000;20456449;20470425;20496165;20522537;20541997;20673160;20813000;21072178;21139048;21143350;21282530;21438118;21566259;21643987;21693764;2172786;21756275;21852235;21890473;21918225;21963094;21987572;22032989;22336945;22473955;22483866;22743267;22902626;23000965;23028371;23229313;23253478;23322570;23369858;23419237;23422418;23562423;23562424;23562425;23583689;23667505;23733932;24163370;24250222;24289633;24928003;7663514;7664335;8382798;8652557;8999876;9137418;9326587;9372911;9443879;9450932;9774388;9973627 2074 D6R9X7;Q03468;Q59FF6 AB209504;ABBA01041070;ABBA01041071;AC073366;AK094670;AK130100;AK303022;AMYH02022985;AY204752;BC127104;CH471187;CR749388;DA457690;L04791;NG_009442;NM_000124 AAA52397;AAI27105;AAO13487;BAD92741;BAG64148;CAH18238;EAW93094;EAW93097;NP_000115;Q03468 Hs.49063 1299925;1648354;1679417;1685984;1689608;1701266;1722643;1730219;1736050;1736100;1767522;1782022;1797504;1851797;1858491;2167374;2172666;5016781 D10S1321E;D10S1378E;D10S1553;D10S1766;D10S2351;D10S238E;ERCC6_1944;G60405;RH104261;RH26695;RH44808;RH66662;RH92205;RH98308;SHGC-149029;SHGC-37683;SHGC-67307;STS-L04791 ARMD5;CKN2;COFS;COFS1;CSB;RAD26;UVSS1 ATP-dependent helicase ERCC6;Cockayne syndrome B protein;Cockayne syndrome group B protein;DNA excision repair protein ERCC-6;OTTHUMP00000019581;Rad26 homolog;cockayne syndrome protein CSB;excision repair cross-complementing rodent repair deficiency, complementation group 6 APPROVED protein-coding ENSG00000225830 HGNC:3438 00596 133540;211980;214150;278800;600630;609413;613761 REVIEWED 1315163 ERLEC1 endoplasmic reticulum lectin 1 This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011] 2 2 2 p16.2 53854922 53887349 + 54014068 54045956 + 53786931 53818819 + 6480464;6907045 12477932;12975309;14702039;15489334;15815621;16531414;18264092;18502753;18538572;19917667;20816211;21062743;21118962;21404621;21723917;21906983;21917589;21963094;22190034;22268729;22939629;23097496;23356641;24035498;24816145;8619474;9110174 27248 Q96DZ1;V9HWD3 AA687108;ABBA01075237;AC007883;AF131743;AF131849;AK001913;AK315477;AMYH02003835;AMYH02003836;AY358717;AY453410;BC013129;BC022228;BQ017438;BU784879;CH471053;DB451941;DB539199;EU794676;NG_029742;NM_001127397;NM_001127398;NM_015701 AAD20029;AAD20060;AAH13129;AAH22228;AAQ89079;AAR26725;AAY24352;ABM85688;ACJ13730;BAA91974;BAG37861;EAX00163;EAX00164;EAX00165;EAX00166;NP_001120869;NP_001120870;NP_056516;Q96DZ1 Hs.438336;Hs.713845 1666020;1850234;2131081;2190555 A002T41;EST26H8;G31468;WI-15186 C2orf30;CIM;CL24936;CL25084;HEL117;XTP3-B;XTP3TPB ER lectin;OTTHUMP00000159609;OTTHUMP00000200603;OTTHUMP00000200604;XTP3-transactivated gene B protein;XTP3-transactivated protein B;cancer invasion and metastasis-related;epididymis luminal protein 117;erlectin 1 APPROVED protein-coding ENSG00000068912 HGNC:25222 10310 611229 REVIEWED 2816356 ERLEC1P1 endoplasmic reticulum lectin 1 pseudogene 1 INTERACTS WITH valproic acid 21 21 21 q11.2 608528 674013 + 15451295 15516788 + 14078974 14144467 + 6480464 100288870 ABBA01057079;ABBA01057080;ABBA01057081;ABBA01057082;ABBA01057083;AC246819;AP001347;KC877770;NG_022985 1689185;1730664;1787586;2128072 D21S1993;D21S329;RH91932;SHGC-155914 pseudo HGNC:38012 INFERRED 8549121 ERICH6-AS1 ERICH6 antisense RNA 1 3 3 q25.1 150435691 150437781 + 150703652 150720140 + 12951057;16344560 101928085 ABBA01058922;ABBA01058923;AC011317;AMYH02007890;BP431953;DA374305;DB324976;HG496184;NR_121674;NR_121675;XR_241596;XR_249517;XR_251477;XR_425670;XR_427426;XR_431647 Hs.561114 ncrna HGNC:41205 VALIDATED 1320643 ERMAP erythroblast membrane-associated protein (Scianna blood group) The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p34.2 41564756 41592645 + 43282776 43310660 + 42817105 42844993 + 1580863;6480464;8699517 11549310;11783959;118583;12393480;12477932;14702039;15469845;15489334;15660834;15783300;16371048;16710414;18426659;19856728;22939629;24094239;24250222;6459052 114625 Q96PL5;Q9P148;X6R4N5 ABBA01050971;AF119899;AF311284;AF311285;AJ505027;AJ505028;AJ505029;AJ505030;AJ505031;AJ505032;AJ505033;AJ505034;AJ505035;AJ505036;AJ505044;AK056138;AK125447;AK295704;AK314436;AL512353;AMYH02000886;AY049028;AY644424;BC031548;BC099703;BC099707;BC099712;BC099713;BX507568;BX537371;CH471059;DQ090843;NG_008749;NM_001017922;NM_018538;XM_005270415;XM_006710313 AAF69653;AAH99703;AAH99707;AAH99712;AAH99713;AAL08411;AAL08412;AAL11456;AAT66409;AAY88736;BAH12162;CAD43739;CAD43740;CAD43741;CAD97613;EAX07130;EAX07131;EAX07132;EAX07133;NP_001017922;NP_061008;Q96PL5;XP_005270472;XP_006710376 Hs.439437 1681360;2108067;2138285;2156383;5037552 AL010112;D8S2279;ERMAP_8126;RH79724;SHGC-74678 BTN5;MGC118810;MGC118811;MGC118812;MGC118813;PRO2801;RD;SC OTTHUMP00000008916;OTTHUMP00000008917;OTTHUMP00000008918;Radin blood group (Rd);Scianna blood group (Sc);erythroblast membrane-associated protein;erythroid membrane-associated protein;hERMAP;radin blood group antigen;scianna blood group antigen APPROVED protein-coding ENSG00000164010 HGNC:15743 12355 111620;111750;609017 REVIEWED 1318095 ERMN ermin, ERM-like protein ENCODES a protein that exhibits actin binding (inferred); actin filament binding (inferred); INVOLVED IN actin filament organization; regulation of cell projection organization; regulation of cell shape; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell cortex; cytoplasm; extracellular vesicular exosome; INTERACTS WITH amiodarone; arsenite(3-); benzene 2 2 2 q24.1 151788269 151797290 - 158175125 158184146 - 157318613 157327634 - 737633;1580863;6480464;8554872 12477932 10574461;16051705;16421295;17207965;19034380;19056867;19165527;19953087;20468071;20934411;21832049 57471 B4DIZ1;B4DKB4;B8ZZ94;C9J6B4;C9J8X3;C9JN04;F8WAQ2;Q8TAM6 AA736604;AB033015;ABBA01004843;AC016732;AI207881;AK295844;AK296477;AK296489;AMYH02005043;AV727436;BC026345;BI598234;CH471058;DQ334271;NM_001009959;NM_020711 AAH26345;AAY14889;ABC67251;ADQ31876;BAA86503;BAG58653;BAG59118;BAG59126;EAX11448;NP_001009959;NP_065762;Q8TAM6 Hs.443894 1679361 RH94328 JN;KIAA1189 OTTHUMP00000204459;OTTHUMP00000204460;OTTHUMP00000204461;OTTHUMP00000204462;OTTHUMP00000204465;OTTHUMP00000206007;ermin;juxtanodin protein-coding ENSG00000136541 HGNC:29208 13838 610072 VALIDATED 1319689 ERMARD ER membrane-associated RNA degradation The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] 6 6 6 q27 170861896 170891792 + 170151718 170181680 + 169751622 169781584 + 6480464;8699517;7240710;8554872 12107410;12477932;14702039;16344560;23768067;24056535 55780 K7EM31;K7EME8;K7EMW5;K7EPX8;K7ER62;K7ERF7;K7ESI0;Q5T6L9 AA909435;ABBA01016120;AI522177;AK001369;AK002014;AK021520;AK294090;AL354892;AMYH02015004;AMYH02015005;BC044812;CA396814;CH471051;DA650477;NG_033842;NM_001278531;NM_001278532;NM_001278533;NM_018341;XM_005267046;XM_006715509;XM_006715510;XM_006725010;XM_006725011;XM_006725012 AAH44812;AAI48359;BAA91653;BAA92035;BAG57431;EAW47436;EAW47437;EAW47438;NP_001265460;NP_001265461;NP_001265462;NP_060811;Q5T6L9;XP_005267103;XP_006715572;XP_006715573;XP_006725073;XP_006725074;XP_006725075 Hs.47546 1728549;1765855 G63713;SHGC-149278 C6orf70;FLJ11152;PVNH6;dJ266L20.3 ER membrane-associated RNA degradation protein;OTTHUMP00000017682;OTTHUMP00000017683;endoplasmic reticulum membrane-associated RNA degradation protein;transmembrane protein C6orf70 APPROVED protein-coding ENSG00000130023 HGNC:21056 18697 615532;615544 REVIEWED 1350824 ERLIN2 ER lipid raft associated 2 This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 8 8 8 p11.2 36546048 36567268 + 37593743 37615319 + 37736227 37757801 + 6480464;7240710;8554872 10449903;11256614;12477932;12975309;14702039;15342556;15489334;15897872;16196087;16835267;17110338;17502376;17558393;18029348;18468998;19240031;19322201;19738201;19751772;20186120;20301682;21139048;21330303;21343306;21796390;21906983;22118674;22268729;22354994;22360420;22678362;22681620;22690709;22771797;22797925;22939629;23085305;23109145;23190606;23246001;23464991;23752268;23798571;24144296;24217618;24255178;8889548 11160 E5RHW4;E5RJ09;O94905 AB018790;ABBA01023572;AC138356;AK057557;AK291394;AK297279;AL442077;AMYH02017812;AMYH02017813;AY358108;AY358851;BC005950;BC035980;BC048308;BC050611;BC067765;BI560439;BP353279;BP363612;BU608317;CH471080;NG_032059;NM_001003790;NM_001003791;NM_007175;XM_005273391;XM_005273392;XM_005273393;XM_006716280 AAH05950;AAH48308;AAH50611;AAH67765;AAQ88475;AAQ89210;BAA36845;BAF84083;BAG59750;CAC09443;EAW63365;EAW63366;NP_001003790;NP_001003791;NP_009106;O94905;XP_005273448;XP_005273449;XP_005273450;XP_006716343 Hs.705490 1675327;1680513;1759887;1856281;2147469;2168458;2169844;2191423;5015961;5095048 D15S1477;ERLIN2;G17213;MARC_21759-21760:1023907404:5;RH65346;RH80184;RH80675;SHGC-170127;STS-N24894;STS-T79168 C8orf2;Erlin-2;MGC87072;NET32;SPFH2;SPG18 OTTHUMP00000225546;OTTHUMP00000225547;OTTHUMP00000225548;OTTHUMP00000225549;OTTHUMP00000225550;OTTHUMP00000225551;OTTHUMP00000225552;OTTHUMP00000225599;SPFH domain family, member 2;SPFH domain-containing protein 2;endoplasmic reticulum lipid raft-associated protein 2;stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2 APPROVED protein-coding ENSG00000147475 HGNC:1356 15437 611225;611605 REVIEWED 1348332 ERMP1 endoplasmic reticulum metallopeptidase 1 ENCODES a protein that exhibits metal ion binding (inferred); metallopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 9 9 9 p24 5722060 5770569 - 5784572 5833081 - 5750671 5833081 - 6480464;8554872 11347906;12477932;14702039;15146197;15489334;17267443;19322201;19946888;21906983;21963094;22797925;24654937 79956 E7ER77;Q6ZMD3;Q7Z2K6 AB058718;ABBA01065409;ABBA01065410;AK026962;AK093217;AK127218;AK172831;AL136980;AL365360;AL834191;AMYH02019089;AW295384;BC031630;BC136771;BC136773;BC144404;CH471071;CN390893;NM_024896;XM_005251587;XR_428431;XR_428432 AAH31630;AAI36772;AAI36774;BAB15604;BAB47444;BAD18796;BAG52673;BAG54455;EAW58757;EAW58758;NP_079172;Q7Z2K6;XP_005251644 Hs.591078 1648196;1853592;2119331 RH67989;SHGC-54206;WI-15054 FXNA;KIAA1815;bA207C16.3 Felix-ina;OTTHUMP00000215015;OTTHUMP00000215016;OTTHUMP00000215017;aminopeptidase Fxna;bA207C16.3 (novel protein similar to predicted yeast, plant and worm proteins) protein-coding ENSG00000099219 HGNC:23703 17227 611156 VALIDATED 1344502 ERO1LB ERO1-like beta (S. cerevisiae) ENCODES a protein that exhibits oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (inferred); protein disulfide isomerase activity (inferred); protein disulfide oxidoreductase activity (inferred); INVOLVED IN 4-hydroxyproline metabolic process (inferred); cell redox homeostasis (inferred); extracellular matrix organization (inferred); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN endoplasmic reticulum (inferred); membrane (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene 1 1 1 q42.2-q43 209627835 209694593 - 236378422 236445339 - 236215122 236282039 - 6480464;6907045 10818100;11707400;11847130;12477932;12752442;14702039;15161913;15489334;16012172;16263699;16677073;16822866;17207965;18395550;18996753;19730683;20379614;20802462;21091435;21139048;22268729;22990118 56605 B4DF57;Q5T1H5;Q5TAE8;Q86YB8 ABBA01033155;ABBA01033156;AF252538;AK001865;AK293941;AK315351;AL139162;AL450309;AMYH02002962;AMYH02002963;AMYH02002964;BC032823;BC044573;BG723126;BX648202;CH471098;CR749523;NM_019891 AAF97547;AAH32823;AAH44573;ADQ32505;BAG37747;BAG57318;EAW70045;EAW70046;NP_063944;Q86YB8 Hs.558519 1661441;1668856;1692372;1779460;1792376;2177478 AL033832;PMC150226P1;SHGC-153442;SHGC-31075;SHGC-76542;SHGC-76552 DKFZp779C1042;DKFZp779I0141;FLJ11003 ERO1-L-beta;ERO1-like protein beta;OTTHUMP00000037860;endoplasmic oxidoreductin-1-like protein B;endoplasmic reticulum oxidoreductin-1-like protein B;oxidoreductin-1-L-beta protein-coding ENSG00000086619 HGNC:14355 13279 615437 VALIDATED 1344396 ERLIN1 ER lipid raft associated 1 INVOLVED IN ER-associated ubiquitin-dependent protein catabolic process; FOUND IN endoplasmic reticulum; endoplasmic reticulum membrane; protein complex; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 10 10 10 q24.31 95647790 95683757 - 101909847 101945814 - 100150090 100186057 - 1580863;6480464 11118313;12477932;14702039;15164054;15342556;15489334;16196087;16835267;17110338;18029348;18468998;18940312;19240031;19751772;20379614;20471030;21048031;21139048;21343306;21890473;21906983;21987572;22268729;22690709;22939629;23400010;23477746;24217618;24250222;24337577;24457600;24482476;24816145;25027693;8125298 10613 B0QZ43;D3DR65;O75477 ABBA01063229;AF064093;AK056574;AK127017;AK222480;AK298427;AK315580;AL138921;AMYH02023650;BC031791;BP280488;BQ101058;BU192550;CH471066;NM_001100626;NM_006459;XM_005269442 AAC26658;AAH31791;ABM85458;ABW03724;BAD96200;BAG37953;BAG60649;EAW49846;EAW49847;NP_001094096;NP_006450;O75477;XP_005269499 Hs.150087 1654473;1690063;1760193;1781996;2121489;2157480;2191623;5014051;5022651;5037552;5092748 A005X19;D11S2921;D8S2278;D8S2279;G32304;MARC_30139-30140:1041612477:1;RH25912;SHGC-132476;SHGC-145715;SHGC-32598;WI-16766 C10orf69;Erlin-1;KE04;KEO4;RP11-316M21.1;SPFH1;SPG62 Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9;OTTHUMP00000020274;OTTHUMP00000020275;OTTHUMP00000197867;SPFH domain family, member 1;SPFH domain-containing protein 1;endoplasmic reticulum lipid raft-associated protein 1;stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1 protein-coding HGNC:16947 08502 611604 VALIDATED 1605125 ERN1 endoplasmic reticulum to nucleus signaling 1 The protein encoded by this gene is the ER to nucleus signalling 1 protein, a human homologue of the yeast Ire1 gene product. This protein possesses intrinsic kinase activity and an endoribonuclease activity and it is important in altering gene expression as a response to endoplasmic reticulum-based stress signals. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 56508473 56595582 - 62116502 62207502 - 64039142 64130799 - 6480464;6907045 10587643;10650002;10737800;11175748;11278723;11779465;11850408;11897784;12050113;12446770;12477932;12637535;12843613;14702039;15063770;15234121;16107700;16344560;16645094;16680093;17585877;17638880;17951406;17991856;18065414;18242182;18369366;18840095;19135427;19913121;20007910;20013084;20103773;20379614;20447464;20625543;20628086;20702765;20798350;20819778;20965234;21118962;21385877;21482118;21525936;21680894;21954231;22194594;22199355;22219383;22314839;22315414;22419015;22446326;22718352;22787145;22917505;23001845;23041190;23042294;23103912;23110043;23363253;23378536;23575540;23598528;23602568;23684307;23748775;23752693;23830192;23880584;23942232;23950715;24121653;24177270;24240056;24330607;24497642;24524643;24565834;24664756;24951540;9637683 2081 O75460 AB209869;ABBA01035309;ABBA01035310;ABBA01035311;AC005803;AC025362;AF059198;AI791744;AI792619;AK055561;AK124426;AK292403;AL698247;AMYH02033784;BC070350;BC130405;BC130407;BF817483;BF846361;CH471109;DB128514;NM_001433;XM_006721769 AAC25991;AAI30406;AAI30408;BAD93106;BAF85092;EAW94213;EAW94214;NP_001424;O75460;XP_006721832 Hs.133982;Hs.700027;Hs.744953 1787868;2148705;2172678 G10027;RH47240;SHGC-173528 FLJ30999;IRE1;IRE1P;IRE1a;MGC163277;MGC163279;hIRE1p ER to nucleus signalling 1;ERN1 {ECO:0000312|HGNC:HGNC:3449};endoplasmic reticulum-to-nucleus signaling 1;inositol-requiring 1;inositol-requiring enzyme 1;inositol-requiring protein 1;ire1-alpha;protein kinase/endoribonuclease;serine/threonine-protein kinase/endoribonuclease IRE1 APPROVED protein-coding ENSG00000178607 HGNC:3449 04943 604033 REVIEWED 1605301 ERP27 endoplasmic reticulum protein 27 ERP27 is a noncatalytic member of the protein disulfide isomerase (PDI; see MIM 608012) family of endoplasmic reticulum (ER) proteins (Alanen et al., 2006 [PubMed 16940051]).[supplied by OMIM, Mar 2008] 12 12 12 p12.3 20211961 20236462 - 15066961 15091463 - 14914027 14938529 - 6480464 12477932;12975309;14702039;15489334;16713569;16940051;17207965;18187620;23192347;23234573 121506 F5GYS6;Q96DN0 AA772096;ABBA01067886;ABBA01067887;AC007655;AK056677;AMYH02026096;AY358536;BC030218;BE501761;BQ574479;CD389092;CH471094;CN296050;NM_001300784;NM_152321;XM_005253302;XM_005253303 AAH30218;AAQ88900;ADQ31581;BAB71251;EAW96335;NP_001287713;NP_689534;Q96DN0;XP_005253359;XP_005253360 Hs.162143 1726091;1852478;2119287 G62298;SHGC-64293;STS-W86908 C12orf46;FLJ32115;PDIA8 ER protein 27;OTTHUMP00000239338;endoplasmic reticulum protein 27 kDa;endoplasmic reticulum resident protein 27;protein disulfide isomerase family A, member 8 APPROVED protein-coding HGNC:26495 08723 610642 VALIDATED 1345502 ERPL1 endogenous retroviral pol gene-like sequence 1 (clone HLM2) 1pter-p36 1580863 2037294;2408338;3701934 2082 Q14272 M11348 AAA35813;Q14272 HLM2 protein-coding HGNC:3450 735473 ERP29 endoplasmic reticulum protein 29 This gene encodes a reticuloplasmin, a protein which resides in the lumen of the endoplasmic reticulum (ER). The protein shows sequence similarity to the protein disulfide isomerase family. However, it lacks the thioredoxin motif characteristic of this family, suggesting that this protein does not function as a disulfide isomerase. The protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 12 12 12 q24.13 112076622 112086494 + 112451152 112461024 + 112013348 112023220 + 6480464;6907045 11271497;11897809;12039039;12362325;12477932;12643545;1286669;15489334;16677078;16713569;17012915;17073718;17081065;17296603;17881435;18395818;19084538;19265690;19321666;19770839;19946888;19995400;20000738;20920593;21139048;21419175;21479953;21525008;21890473;21903368;22064321;22160175;22304920;22543584;23000965;23558074;23864651;23891004;24250222;24391750;24583282;24816145;8313870;9492298;9738895 10961 F8VY02;F8W1G0;P30040;V9HW71 AA412124;ABBA01019917;AC073575;AMYH02027214;BC101493;BC101495;BE794579;CH471054;CR541667;FJ224317;NM_001034025;NM_006817;X94910 AAI01494;AAI01496;ACI46009;CAA64397;CAG46468;EAW97990;EAW97991;EAW97992;NP_001029197;NP_006808;P30040 Hs.75841 2148396;5493507 SHGC-31784;UniSTS:486946 C12orf8;ERp28;ERp31;HEL-S-107;PDI-DB;PDIA9 OTTHUMP00000241751;OTTHUMP00000241752;endoplasmic reticulum lumenal protein ERp28;endoplasmic reticulum resident protein 28;endoplasmic reticulum resident protein 29;endoplasmic reticulum resident protein 31;endoplasmic retuclum protein 29;epididymis secretory protein Li 107;protein disulfide isomerase family A, member 9 APPROVED protein-coding ENSG00000089248 HGNC:13799 03794 602287 REVIEWED 4144670 ERP29P1 endoplasmic reticulum lumenal protein 29 pseudogene 1 20 20 20 47431544 47432328 - 50726886 50727670 - 52110347 52111131 - 100420612 ABBA01052829;AL109984;AMYH02037276;NG_024987 2148396 SHGC-31784 ERP28P pseudo HGNC:24625 INFERRED 1343527 ERV1 endogenous retroviral sequence 1 ASSOCIATED WITH Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (inferred) p11.3-p11.21 7240710 3568764;6181510;6843662 2085 K02919 protein-coding HGNC:3453 613076 1317870 ERO1L ERO1-like (S. cerevisiae) ENCODES a protein that exhibits oxidoreductase activity; INVOLVED IN chaperone mediated protein folding requiring cofactor; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (ortholog); release of sequestered calcium ion into cytosol (ortholog); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; Vibrio cholerae infection pathway; FOUND IN endoplasmic reticulum; membrane; INTERACTS WITH benzene-1,2,4-triol; benzo[a]pyrene diol epoxide I; calcitriol 14 14 14 q22.1 32976214 33030020 - 53108605 53162419 - 52641887 52695701 - 1580863;6480464;6907045 10671517;10818100;10970843;11707280;11707400;11847130;12403808;12477932;12752442;12975309;14517240;15136577;15161913;15475357;15489334;15592500;16677073;17170699;17207965;18781797;18833192;18971943;19766098;19946888;20000738;20095866;20130085;20186508;20379614;20562109;20657012;20802462;20834232;21139048;21398518;21757736;21854214;21906983;21988832;22268729;22304920;22863883;23000965;23027870;23335490;23503679;23530257;23535732;23578220;23919619;23979138;24022479;24758166;24816145 30001 G3V2H0;G3V3E6;G3V503;G3V5B3;Q96HE7 ABBA01018165;ABBA01018166;ABBA01018167;ABBA01018168;AF081886;AF123887;AK292839;AL133453;AMYH02029193;AY358463;BC008674;BC012941;CH471078;NM_014584 AAF06104;AAF35260;AAH08674;AAH12941;AAQ88828;ACT64506;ACT64507;ADQ32776;ADZ15385;BAF85528;EAW65646;EAW65647;NP_055399;Q96HE7 Hs.592304 2110385;2125033;2151247;5093214 ERO1L_9627;G32587;G36165;SHGC-57728 ERO1-L;ERO1-L-alpha;ERO1-alpha;ERO1A;ERO1LA ERO1-like protein alpha;OTTHUMP00000178990;endoplasmic oxidoreductin-1-like protein;oxidoreductin-1-L-alpha protein-coding HGNC:13280 13278 615435 PROVISIONAL 1349195 ERVE1 endogenous retroviral sequence E, 1 q11 11401426;11721880 85314 AB047241;AB047242 5020773 GDB:4585058 HERV-E1;HERVE1 protein-coding HGNC:14602 606601 1345054 ERV3-1 endogenous retrovirus group 3, member 1 The human genome includes many retroelements including the human endogenous retroviruses (HERVs). ERV3, one of the most studied HERVs, is thought to have integrated 30 to 40 million years ago and is present in higher primates with the exception of gorillas. Taken together, the observation of genome conservation, the detection of transcript expression, and the presence of conserved ORFs is circumstantial evidence for a functional role. A functional role is also suggested by the observation that downregulation of ERV3 is reported in choriocarcinoma. [provided by RefSeq, Jul 2008] 7 7 7 q11.2 58169790 58186179 - 64450733 64467124 - 64990355 65006746 - 10427470;10692254;10894926;12083821;12477932;12853948;12970426;14557543;15081124;15994821;16344560;1783368;19540319;2115127;21542922;24163370;2884330;3346101;3356751;3840930;6495650;6505687;7645262;7716822;8592062;9209323;9209324;9458354;9525678 2086 Q14264 ABBA01027989;ABBA01027990;AC073210;AK074464;AK295189;AMYH02015863;BC063605;DA198800;K02271;M12140;NM_001007253 AAA88027;BAG58193;NP_001007254;Q14264 Hs.250693 1675453;2149199 RH70049;SHGC-32256 ERV-R;ERV3;ERVR;FLJ23884;H-PLK;HERV-R;HERVR;envR ERV-3 envelope protein;ERV-R envelope protein;ERV3-1 envelope protein;HERV-R envelope protein;HERV-R_7q21.2 provirus ancestral Env polyprotein;OTTHUMP00000228206;endogenous retroviral sequence 3 APPROVED protein-coding ENSG00000213462 HGNC:3454 15919 131170 REVIEWED 1604617 ERRFI1 ERBB receptor feedback inhibitor 1 ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008] 1 1 1 p36 7178838 7193452 - 8071779 8086393 - 8011719 8026333 - 6480464 10749885;11003669;11843178;12226756;12384522;12387890;12477932;12833145;14702039;15489334;15556944;15696545;15778465;15856022;16007071;16344560;16710414;16819504;17351343;17599051;18029348;18046415;18077449;18271526;19040996;19322201;19439667;19531499;19674104;19815557;20044804;20351267;20421427;20936779;21190978;21333004;21706016;21739478;21988832;22082529;22193779;22505024;22701735;23324575;23333304;23384834;23746120;23868981;23935914;23956138;24250222;24262325;24425048;24797263;24830724;2780291;7641805 54206 B3KTV8;I6S2Y9;K7EJB4;K7EMD2;K7ENI4;K7ENN7;Q9UJM3 ABBA01035502;AJ276373;AK027830;AK096149;AK315718;AL034417;AL137274;AMYH02000203;AMYH02000204;BC012839;BC025337;CH471130;DB033666;JQ867454;NM_018948;XM_005263477;XM_006710697 AAH25337;ABM83063;ABM86257;AFM52327;BAG38076;BAG53220;CAB70672;CAC20426;EAW71592;EAW71593;EAW71594;NP_061821;Q9UJM3;XP_005263534;XP_006710760 Hs.605445 1684399;1849550;2183501;5092680;5093004 A005P41;G32261;G32464;RH92580;WI-17925 GENE-33;MIG-6;MIG6;RALT OTTHUMP00000001359;mitogen-inducible gene 6 protein;receptor-associated late transducer APPROVED protein-coding ENSG00000116285 HGNC:18185 09218 608069 VALIDATED 1342913 ERPL2 endogenous retroviral pol gene-like sequence 2 q33.2 3701934 2083 AC112175;NG_003026 HLM-25 pseudo HGNC:3451 8548028 ERVFRD-3 endogenous retrovirus group FRD, member 3 9 9 21929454 21931072 + 21929455 21931073 + 14702039 100533725 ABBA01065172;AK091174;AL449423;AMYH02019291;NG_028722 pseudo HGNC:49792 INFERRED 1349231 ERVK3 endogenous retroviral sequence K(C4), 3 8281148 2088 X74613 HGNC:3456 1346512 ERVK2 endogenous retroviral sequence K(C4), 2 1580863 8281148 2087 O15309 X74612 5110678;5124113 RH67679;SGC35068 HGNC:3455 1344265 ERVK4 endogenous retroviral sequence K (G1), 4 60359 AB047209 HGNC:13756 614011 1346348 ERN2 endoplasmic reticulum to nucleus signaling 2 ENCODES a protein that exhibits ATP binding; endonuclease activity; magnesium ion binding; INVOLVED IN apoptotic chromosome condensation; negative regulation of transcription, DNA-templated; nucleic acid phosphodiester bond hydrolysis; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH arsane; arsenic atom; (S)-nicotine (ortholog) 16 16 16 p12.2 22479794 22502990 - 23701625 23724821 - 23690304 23713500 - 6480464;8554872 10619423;11175748;14702039;16973740;18242182;18976975;19913121;20379614;20628086;21146530;23236464;8889548;9755171 10595 E7ETG2;H3BSU1;H3BTW8;H3BUU2;Q76MJ5 AB047079;ABBA01017072;AC008870;AC012317;AK131280;AK309313;AK310834;AMYH02031704;AMYH02031705;AMYH02031706;BU608100;CH471145;EF560720;EF560739;KC877598;KC877599;NM_033266;XM_005255044 AAI56239;AAI57114;ABQ59030;ABQ59049;ACT64383;ACT64384;BAB21297;BAD18455;EAW55802;NP_150296;Q76MJ5;XP_005255101 Hs.592041 1771354;2109291;2109673;5022200 ERN2_9151;G06491;L18426;PLK1_8546 IRE1 beta;IRE1b;hIRE2p;ire1-beta ER to nucleus signalling 2;IRE1, S. cerevisiae, homolog of;endoplasmic reticulum to nucleus signalling 2;endoplasmic reticulum-to-nucleus signaling 2;inositol-requiring 1 beta;inositol-requiring protein 2;serine/threonine-protein kinase/endoribonuclease IRE2 protein-coding ENSG00000134398 HGNC:16942 04944 604034 VALIDATED 1348523 ERVK7 endogenous retroviral sequence K, 7 (type 2) 10469592;11401426 449619 HGNC:31828 614013 1606632 ERVFRD-1 endogenous retrovirus group FRD, member 1 Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012] 6 6 6 p24.1 12331189 12340538 - 11102722 11112071 - 11102489 11111838 - 6480464 12477932;12970426;12975309;14557543;14574404;14694139;14702039;15476554;15489334;16140326;16303743;16344560;16714059;18077339;18215254;18650494;19616006;21493955;21542922;21771862;21832049;23177091 405754 P60508;Q8NC12 ABBA01022099;AK075092;AK123938;AL136139;AMYH02013103;AY358244;BC068585;CQ890942;DA863475;NM_207582 AAH68585;AAQ88611;ACT64419;ACT64420;BAC11396;BAC85731;CAH68778;NP_997465;P60508 Hs.631996 1664811;1671716;1769091;1793526;2150117 AL031214;PMC228468P4;RH17888;SHGC-33794;WIAF-1567 ERVFRDE1;FLJ41944;FLJ90611;GLLL6191;HERV-FRD;HERV-W/FRD;MGC87585;UNQ6191;envFRD HERV-FRD provirus ancestral Env polyprotein;HERV-FRD_6p24.1 provirus ancestral Env polyprotein;OTTHUMP00000214319;endogenous retrovirus group FRD member 1;envelope polyprotein;syncytin 2;syncytin-2 APPROVED protein-coding ENSG00000244476 HGNC:33823 13648 610524 VALIDATED 1352633 ERVK6 endogenous retroviral sequence K, 6 ENCODES a protein that exhibits aspartic-type endopeptidase activity (inferred); DNA binding (inferred); nucleic acid binding (inferred); INVOLVED IN DNA integration (inferred); DNA recombination (inferred); mRNA transport (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin 6480464 10080172 64006 Q69383;Q69384;Q7LDI9;Q9BXR3;Q9WJR5;Q9Y6I0 AF074086;NM_001007236 5024374;5037634 D22S1651;D6S2277 HGNC:13915 605626 5490893 ERVMER34-1 endogenous retrovirus group MER34, member 1 FOUND IN integral component of membrane (inferred); viral envelope (inferred); INTERACTS WITH copper atom; copper(0); valproic acid 4 4 4 q12 51106251 51114134 - 53609684 53617807 - 52743517 52751640 - 6480464 11181995;12477932;14702039;15489334;15498874;16344560;17567985 100288413 Q9H9K5 ABBA01003381;AC104066;AK022746;AMYH02009210;AX879715;AY189288;BC067526;BC067527;BC067528;BC067529;BC069998;BP871936;CH471057;DA633167;NM_001242690;NM_024534 AAH67526;AAH67528;AAH67529;AAH69998;AAO86732;BAB14220;CAE90630;EAX05439;NP_001229619;NP_078810;Q9H9K5 Hs.363087 2173795 D4S3087 FLJ12684;FLJ37999;MGC79429;MGC79431;MGC79432 HERV-MER_4q12 provirus ancestral Env polyprotein;LP9056 protein;endogenous retrovirus group MER34 member 1;hypothetical protein LOC100288413;uncharacterized protein LP9056 protein-coding ENSG00000226887 HGNC:42970 VALIDATED 5509632 ERVK13-1 endogenous retrovirus group K13, member 1 ENCODES a protein that exhibits structural molecule activity (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); viral envelope (inferred); INTERACTS WITH crotonaldehyde 16 16 16 p13.3 2910724 2923014 - 2708390 2723440 - 2658389 2673439 - 6480464 12477932;14702039;15489334;23314748 100507321 ABBA01026710;AC092117;AC141586;AK000400;AK091794;AK095440;AK097014;AK097909;AK131509;AK292678;AMYH02031271;AX747190;BC043252;BX335435;NR_040023 BAA91140;BAD18653;BAF85367;Q9NX77 Hs.406976 1690946;5111997;5113948 G44303;RH69738;RH91370 FLJ16727;FLJ20393;FLJ34475;FLJ38121;FLJ39695;FLJ40590 ncrna HGNC:27548 VALIDATED 1319370 ERP44 endoplasmic reticulum protein 44 ENCODES a protein that exhibits protein disulfide isomerase activity; INVOLVED IN glycoprotein metabolic process; protein folding; response to endoplasmic reticulum stress; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cell surface; endoplasmic reticulum lumen; endoplasmic reticulum membrane; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; aflatoxin B1; copper atom 9 9 9 q31.1 73254858 73374731 - 102741461 102861330 - 99979179 100099048 - 1580863;6480464;8554872 11847130;11921445;12477932;12975309;14517240;15164053;15308636;15489334;15652484;16236267;16303743;16677073;17353931;17805346;18178549;18508857;18552768;19199708;19322201;19615732;19913121;19995400;20562859;20628086;21139048;22190034;22451649;22863883;23551011;23685074;23979138;24654937;24816145;9628581 23071 Q9BS26 AB011145;ABBA01042892;ABBA01042893;ABBA01042894;AJ344330;AK075024;AL137072;AL358937;AL360084;AMYH02021333;AMYH02021334;AY359048;BC005374;BQ881761;BX648519;CH471105;CQ783816;NM_015051 AAH05374;AAQ89407;BAA25499;BAG52054;CAC87611;CAF86876;EAW58922;EAW58923;NP_055866;Q9BS26 Hs.154023 1767691;1778377;1850011;2180383 A004T01;A007D04;SHGC-57144;STS-R74235 KIAA0573;PDIA10;TXNDC4 ER protein 44;OTTHUMP00000021788;endoplasmic reticulum resident protein 44;endoplasmic reticulum resident protein 44 kDa;protein disulfide isomerase family A, member 10;thioredoxin domain containing 4 (endoplasmic reticulum);thioredoxin domain-containing protein 4 protein-coding ENSG00000023318 HGNC:18311 10290 609170 VALIDATED 1348397 ERVK5 endogenous retroviral sequence K (G2), 5 ENCODES a protein that exhibits nucleic acid binding (inferred); structural molecule activity (inferred); zinc ion binding (inferred); INVOLVED IN viral process (inferred); FOUND IN nucleus (inferred); plasma membrane (inferred); viral capsid (inferred) 60358 P61583;Q9HDB8;Q9HDB9 HGNC:13757 614012 1354332 ESA4 esterase A4 2090 HGNC:3462 133220 5132012 ERVV-2 endogenous retrovirus group V, member 2 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred) 19 19 19 50595549 50601940 + 53547991 53554380 + 53044738 53051127 + 8554872 16344560;18826608;21542922;23555306 100271846 B6SEH9;M9QSX5 ABBA01068226;AC010328;AMYH02036417;DA863698;EU853143;KC010508;NM_001191055 ACI62854;AGI61273;B6SEH9;NP_001177984 Hs.420445 ENVV2;HERV-V2 HERV-V_19q13.41 provirus ancestral Env polyprotein 2;endogenous retrovirus HSV2;envelope glycoprotein ENVV2;envelope protein ENVV2 protein-coding ENSG00000268964 HGNC:39051 VALIDATED 1344495 ESAT esterase activator 4508320 2096 HGNC:3463 1342621 ESB3 esterase B3 2097 HGNC:3464 133290 1346740 ERVW-1 endogenous retrovirus group W, member 1 Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] 7 7 7 q21.2 86802231 86811766 - 92097694 92107229 - 92468380 92477915 - 6480464 10580403;10693809;10708449;10737800;10826480;11238877;11375061;11531410;11854637;11990458;12050356;12175968;12397062;12477932;12620933;12664292;12724415;12757936;12853948;12970426;14520239;14557543;14613893;14757826;15033302;15109395;15254254;15269105;15452578;15507602;15827173;15888734;16004993;16176588;16760410;16820059;16871371;17209768;17453631;17762178;18077339;18351375;19321927;19327884;19407656;19561344;19692500;19903052;20100784;20546612;21493955;21542922;21771862;22109522;22348442;22573555;22573740;22971074;22999499;23212585;23290063;23333240;23457515;23492904;23727510;24013223;24098463;24204983;24413738;24478419;24812088;9835022;9882319 30816 D0EYG5;Q9UQF0 AB051004;ABBA01045802;AC007566;AF072503;AF072505;AF072506;AF072507;AF072508;AF156963;AF208161;AF506835;AF513360;AF520478;AF520480;AF520482;AF520484;AF520486;AF520488;AF520490;AF520492;AF520494;AF520496;AF520498;AF520500;AF520502;AF520504;AF520506;AF520508;AF520510;AF520512;AF520514;AF520516;AF520518;AF520520;AF520522;AF520524;AF520526;AF520528;AF520530;AF520532;AF520534;AF520536;AF520538;AF520540;AF520542;AF520544;AF520546;AF520548;AF520550;AF520552;AF520554;AF520556;AF520558;AF520560;AF520562;AF520564;AMYH02016265;AY050299;AY050300;AY050301;AY101582;AY101583;AY101584;AY101585;BC137381;BG012022;BX365066;BX391741;CH236949;GQ919057;NM_001130925;NM_014590 AAD14545;AAD14546;AAD14547;AAD14548;AAF28334;AAF74215;AAI37382;AAL11493;AAL11494;AAL11495;AAM33413;AAM47599;AAM68161;AAM68162;AAM68163;AAM68164;AAQ17561;AAQ17562;AAQ17563;AAQ17564;AAQ17565;AAQ17566;AAQ17567;AAQ17568;AAQ17569;AAQ17570;AAQ17571;AAQ17572;AAQ17573;AAQ17574;AAQ17575;AAQ17576;AAQ17577;AAQ17578;AAQ17579;AAQ17580;AAQ17581;AAQ17582;AAQ17583;AAQ17584;AAQ17585;AAQ17586;AAQ17587;AAQ17588;AAQ17589;AAQ17590;AAQ17591;AAQ17592;AAQ17593;AAQ17594;AAQ17595;AAQ17596;AAQ17597;AAQ17598;AAQ17599;AAQ17600;AAQ17601;AAQ17602;AAQ17603;AAQ17604;ACX53625;BAB47558;NP_001124397;NP_055405;Q9UQF0 1797506;5107869 ERVWE1_2140;STS-T93615 ENV;ENVW;ERVWE1;Env-W;HERV-7q;HERV-W;HERV-W-ENV;HERV7Q;HERVW HERV-7q envelope protein;HERV-W Env glycoprotein;HERV-W envelope protein;HERV-W_7q21.2 provirus ancestral Env polyprotein;HERV-W{7q21.1} provirus ancestral Env polyprotein;HERV-tryptophan envelope protein;HERVWENV;OTTHUMP00000161914;endogenous retroviral family W, env(C7), member 1;endogenous retrovirus group W member 1;envelope glycoprotein;envelope polyprotein gPr73;envelope protein;enverin;human endogenous retrovirus W envC7-1 envelope protein;syncytin;syncytin A;syncytin-1 APPROVED protein-coding ENSG00000242950 HGNC:13525 05231 604659 REVIEWED 1343709 ERVWE2 endogenous retroviral family W, env(C7), member 2 q22.1 139302 AL354685;NG_006128 pseudo HGNC:17254 1350541 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008] 8 8 8 p21.1 26591951 26622299 + 27632057 27670141 + 27774541 27812624 + 6480464;7240710;8554872;8699517 11111111;12477932;15821733;15958495;16380922;16775838;17081983;18186147;18411254;18501190;19074885;19574259;19738907;19907496;20116366;20301332;20331966;20379614;21139048;21282530;21777535;21906983;22614755;495649 157570 E5RFE4;E5RFP7;E5RIE3;H0YB88;Q56NI9 ABBA01005593;AC104997;AF306675;AF306676;AF306677;AF306678;AF306679;AK124215;AL832666;AMYH02017675;AMYH02017676;AY882862;BC017933;BC034641;BC040615;CH471080;NG_008117;NM_001017420;XM_006716297;XR_247122 AAH34641;AAI41419;AAI46563;AAX68677;BAG54021;EAW63538;NP_001017420;Q56NI9;XP_006716360 Hs.99480 1683535;1698086;1760351;2176236;5014051;5015607;5015619;5037552 D11S3014;D11S3114;D8S2278;D8S2279;RH102575;RH98495;SHGC-141941;STS-H67282 2410004I17Rik;EFO2;RBS ECO1 homolog 2;N-acetyltransferase ESCO2;OTTHUMP00000225318 APPROVED protein-coding ENSG00000171320 HGNC:27230 18564 268300;269000;609353 REVIEWED 2292055 ERVV-1 endogenous retrovirus group V, member 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) 19 19 19 q13.41 50564903 50567392 + 53517344 53519833 + 53014091 53016580 + 8554872 12477932;14702039;15231748;18826608;21542922;23555306 147664 B6SEH8;M9QQA5;Q96MK7 ABBA01068226;ABBA01068227;AC010328;AK056776;AMYH02036417;BC104018;BC104019;BC104020;BC113852;BC114460;CH471135;EU853142;KC010496;NM_152473 ACI62853;AGI61264;B6SEH8;BAB71281;EAW72108;NP_689686 Hs.44329 5022322;5037552;5493161 D11S2560;D8S2279;UniSTS:484511 ENVV1;ERVV-2;FLJ32214;HERV-V1;env HERV-V_19q13.41 provirus ancestral Env polyprotein 1;endogenous retrovirus group V, member 2;envelope glycoprotein ENVV1;envelope protein ENVV1 APPROVED protein-coding HGNC:26501 08124 VALIDATED 1348841 ESAM endothelial cell adhesion molecule INVOLVED IN blood coagulation (inferred); homophilic cell adhesion via plasma membrane adhesion molecules (inferred); leukocyte migration (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene; copper(2+) sulfate 11 11 11 q24.2 121783196 121792400 - 124623019 124632223 - 124753123 124762327 - 1580863;6480464 11279107;11847224;11906820;12477932;12975309;14702039;15340161;15489334;16303743;16344560;19240061;19759376;20153339;21822266;21982860;24177327 90952 C9JIE7;F8WDW9;Q96AP7 ABBA01031252;ABBA01031253;ABBA01031254;AF277292;AF361746;AK075396;AK091023;AK092429;AK301160;AK314710;AMYH02025724;AP000866;AY189281;AY358382;BC016868;CH471065;CS051197;DA257581;NM_138961;XM_005271720;XR_246456 AAF97236;AAH16868;AAK51065;AAO86725;AAQ88748;ABM82694;ABM85878;BAC11594;BAG62750;CAI72094;EAW67598;NP_620411;Q96AP7;XP_005271777 Hs.173840 1685758;1853260 RH94115;STS-R69114 W117m 2310008D05Rik;HUEL (C4orf1)-interacting protein;LP4791 protein;OTTHUMP00000200894;OTTHUMP00000200895;endothelial cell-selective adhesion molecule 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H protein-coding ENSG00000149564 HGNC:17474 13280 614281 VALIDATED 1314468 ESF1 ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular space; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; crocidolite asbestos 20 20 20 p12.1 13765027 13835578 - 13694969 13765579 - 13714322 13784933 - 6480464;8554872 11780052;12463424;12477932;14702039;15302935;15489334;15635413;15660422;16344560;16565220;17081983;19471022;21693764;21906983;21963094;22505724;22586326;23358156;23973329;24457600;24816145 51575 Q6P6H6;Q9H501 ABBA01053973;ABBA01053974;AF068285;AK000375;AK022369;AK022670;AK074299;AL161659;AMYH02036723;AMYH02036724;BC020952;BC030513;BC039706;BC046107;BC062214;BC104663;CH471133;DA472223;KF456833;KF511288;NM_001276380;NM_016649 AAF65504;AAH20952;AAH30513;AAH39706;AAH46107;AAH62214;AAI04664;AAI40352;AAI46543;BAA91123;BAB14023;BAB14167;EAX10313;NP_001263309;NP_057733;Q9H501 Hs.369284 1682862;5020948;5022651;5109281 D11S2921;D1S1425;G35510;RH98877 C20orf6;FLJ20368;HDCMC28P;bA526K24.1 ABT1-associated protein;ABTAP;ESF1 homolog;OTTHUMP00000030301;chromosome 20 open reading frame 6 protein-coding ENSG00000089048 HGNC:15898 10732 VALIDATED 1354034 ESD esterase D This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009] 13 13 13 q14.1-q14.2 28401323 28427305 - 47345391 47371423 - 46771256 46797288 - 1580863;6480464 10931946;1137344;11436564;11785295;11963573;12477932;12721789;12942785;14702039;15057823;15489334;18029348;18552983;18624398;1886375;19056867;19126594;19343046;19738201;20562859;21139048;21596165;21890473;21906983;22118674;22505724;22939629;22944692;23752268;25027693;3164702;3456572;3459695;3462698;3462714;3462728;3591015;3770744;6823558;7375916;7821789;7907313 2098 H7BZT7;P10768;U3KQT1;X6RA14 ABBA01050995;AF052509;AF085881;AF112219;AK093643;AK098540;AL136958;AMYH02027991;BC001169;BT007059;CH471075;D28416;M13450;NM_001984;XM_005266278 AAA52408;AAC06298;AAC99788;AAH01169;AAP35708;BAA05782;EAX08767;EAX08768;EAX08769;NP_001975;P10768;XP_005266335 Hs.432491 1651159;2119128;2130468;2180371;2185694 D13S1674;RH47230;SHGC-30741;STS-M13450;STS-T64482 FGH;FLJ11763 OTTHUMP00000018374;OTTHUMP00000018375;OTTHUMP00000018376;S-formylglutathione hydrolase;esterase 10;esterase D/formylglutathione hydrolase;methylumbelliferyl-acetate deacetylase 1643520 BW259_H APPROVED protein-coding ENSG00000139684 HGNC:3465 00588 133280 REVIEWED 1606919 ESPNP espin pseudogene INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; bisphenol A 1 1 1 p36.13 1679 2542 - 17017713 17046652 - 16691218 16720157 - 6480464 15286153;21906983 284729 ABBA01008118;ABBA01008119;AC246792;AK294247;AL021920;AL035288;AMYH02000384;NR_026567 BAG57543;CAA22892 Hs.548239 1685990;1724561;1732860;1733164;2136618 D1S1291;D1S1469;D1S2126;RH122540;RH92766 FLJ60011;RP1-163M9.1;dJ1182A14.1 pseudo ENSG00000268869 HGNC:23285 PROVISIONAL 1602816 ESPNL espin-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q37.3 232721894 232754471 + 239008951 239041928 + 238100310 238133287 + 6480464;8554872 12477932;12975309 339768 B3KXY4;C9J6L8;Q6ZVH7 ABBA01042601;AC016757;AK124559;AK124612;AK128187;AMYH02006071;AY358157;BC042051;BC080639;CH471063;NM_194312;XM_005246073;XM_006712485 AAH42051;AAH80639;AAQ88524;BAC85884;BAC85900;BAG54646;EAW71140;NP_919288;Q6ZVH7;XP_005246130;XP_006712548 Hs.127724 1855511;2109809 SCLY_9735;WI-13471 FLJ42568;MGC99829 OTTHUMP00000164473;OTTHUMP00000202681;espin-like protein protein-coding ENSG00000144488 HGNC:27937 14170 VALIDATED 5508482 ESRG embryonic stem cell related (non-protein coding) FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; valproic acid 3 3 3 p14.3 54632737 54640470 - 54666151 54673884 - 54632124 54639857 - 6480464 17803967;21861197;23628413 790952 Q1W209 ABBA01024462;AC092057;AMYH02006837;BE672034;DQ445779;HG495687;NR_027122 ABD92927;Q1W209 Hs.720658 2143540;5124088 RH65395;RH65515 HESRG ncrna ENSG00000265992 HGNC:39079 611473 VALIDATED 1353486 ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008] 18 18 18 q11.2 15915246 15986667 - 19109242 19180697 - 21529281 21600736 - 6480464 11111111;11572484;12477932;14576321;14702039;15489334;15958495;18614053;19074885;19861517;19907496;20331966;20360068;24163370;24250222 114799 Q5FWF5 AB067498;ABBA01022684;ABBA01022685;ABBA01022686;AC011774;AK090579;AK096746;AL832041;AL834200;AMYH02034379;BC036943;BC089426;BG492713;BK001617;CH471088;EF444976;NM_052911;XM_006722379;XR_243845 AAH36943;AAH89426;ACA05989;BAB67804;BAC03483;CAH10584;CAH10682;DAA02068;EAX01127;EAX01128;EAX01129;NP_443143;Q5FWF5;XP_006722442 Hs.464733 1339538;1652207;1697406;1697456;2107029;2180375;5127941 D18S1104;EFO1__6850;RH102203;RH102229;RH17419;SHGC-152381;SHGC-57498 A930014I12Rik;CTF;ECO1;EFO1;EFO1p;ESO1;KIAA1911;MGC105022;hEFO1 CTF7 homolog 1;ECO1 homolog 1;ESO1 homolog 1;N-acetyltransferase ESCO1;establishment factor-like protein 1;establishment of cohesion 1 homolog 1 APPROVED protein-coding ENSG00000141446 HGNC:24645 16868 609674 VALIDATED 731924 ESPN espin This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009] 1 1 1 p36.31 5599359 5635452 + 6484836 6521004 + 6424776 6460944 + 734943;6480464;7240710;8547669;8547667;8699517;8554872 10975527;19804752;20624897 11230166;12598619;15286153;15498874;15930085;16569662;16710414;18973245;19102128;19773279;20301607;8799813;8889548;9763424 83715 B1AK53;H0Y7L4;K7EMB7;Q5JYL1 ABBA01035449;ABBA01035450;ABBA01035451;AF134401;AL031848;AL136880;AL158217;AL834172;AMYH02000175;AMYH02000176;AY203958;BM713713;CH471130;NG_015866;NM_031475;XM_005263501 AAD24480;AAI56376;AAI72457;AAP34481;B1AK53;CAB66814;CAD38870;CAI22151;CAI22163;EAW71535;EAW71536;EAW71537;EAW71538;NP_113663;XP_005263558 Hs.744222 1651750;1685990;1724561;2140561 RH122540;RH92766;SHGC-33105;SHGC-74161 DFNB36;DKFZp434A196;DKFZp434G2126;LP2654 OTTHUMP00000000828;autosomal recessive deafness type 36 protein;ectoplasmic specialization protein APPROVED protein-coding ENSG00000187017 HGNC:13281 06962 606351;609006 REVIEWED 1314788 ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae) Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 2010] 12 12 12 q 53311187 53336713 + 53662083 53687427 + 53268293 53293643 + 1580863;6480464;6907045;8554872 10411507;11509732;11747808;11875078;12194817;12297314;12477932;12672959;15302935;15342556;15880121;15989971;16177575;16258266;17102637;17604273;17974570;18003702;18616699;18728194;19008095;19117984;19342897;19345191;19351757;19758559;20360068;20508983;21041660;21126432;21139048;21272169;21906983;21963094;21987572;22505724;22542101;22626734;22814604;23383273;23798554;24781523;8724849 9700 H3BM31;H3BRX7;Q14674 ABBA01008321;ABBA01008322;ABBA01008323;ABBA01008324;AC021072;AC073611;AI458447;AK128350;AK299423;AK316135;AMYH02026517;AW009863;AY455930;BC047603;BG328178;BP244662;CH471054;D79987;NM_012291;XM_006719705 AAI72238;AAI72570;AAR18247;BAA11482;BAG61403;BAH14506;EAW96681;EAW96682;NP_036423;Q14674;XP_006719768 Hs.153479 1747717;1747721;1747725;1751739;2165200;5037744 D1S3694;G64239;G64240;G64244;RH45441;SHGC-105759 ESP1;FLJ46492;KIAA0165;SEPA OTTHUMP00000241835;OTTHUMP00000242633;caspase-like protein ESPL1;extra spindle poles like 1;extra spindle poles like 1 (s. cerevisiae);extra spindle poles-like 1 protein;separin;separin, cysteine protease APPROVED protein-coding ENSG00000135476 HGNC:16856 06825 604143 VALIDATED 737594 ESM1 endothelial cell-specific molecule 1 This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 5 5 5 q11.2 51226920 51234639 - 54273695 54281414 - 54977867 54985586 - 1580863;6480464 11025405;11544294;11590178;11866539;12011586;12477932;12778364;15489334;16764824;16899604;17207965;17362927;18592377;18614759;18680240;19458546;19785952;20102396;20237496;20379614;20383661;20515564;20821239;21526908;21905955;22183069;22353248;22735811;22948784;23243026;23454598;24340011;24446198;8702785 11082 M0R154;Q9NQ30 ABBA01015734;AC010436;AC034238;AJ401091;AJ401092;AJ973643;AK300634;AK311817;AMYH02011308;BC011989;BM423977;CH471123;NM_001135604;NM_007036;X89426 AAH11989;ADQ32828;BAG34760;BAG62324;CAA61597;CAB94771;CAJ13737;EAW54896;EAW54897;NP_001129076;NP_008967;Q9NQ30 Hs.129944 1715941;1755395;1778101;5016292;7186886 RH122706;SHGC-142274;SHGC-57281;STS-X89426 ESM-1 OTTHUMP00000122501;OTTHUMP00000221554;endocan APPROVED protein-coding ENSG00000164283 HGNC:3466 03310 601521 REVIEWED 1606552 ESRP1 epithelial splicing regulatory protein 1 ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009] 8 8 8 q22.1 91839462 91906238 + 95653364 95719694 + 94641136 94707466 + 6480464 11329013;12477932;14702039;15489334;17145811;18029348;19177006;19285943;19829082;20711167;21876675;21906983;22037216;22354987;22585092;22961986;23299472;23825128;24457600 54845 E5RGE9;E5RI26;H0YBB3;H0YBR2;Q6NXG1 ABBA01037458;ABBA01037459;AC108860;AI990751;AK000178;AK001805;AMYH02018430;AMYH02018431;AMYH02018432;AMYH02018433;AP005660;BC019932;BC035406;BC052574;BC067098;BC099916;BC101621;BC112043;BG182742;BG212336;BX641160;BX647570;CH471060;NM_001034915;NM_001122825;NM_001122826;NM_001122827;NM_017697;XM_005250991;XM_005250992;XR_242393 AAH19932;AAH67098;AAH99916;AAI12044;BAA90992;EAW91720;EAW91721;NP_001030087;NP_001116297;NP_001116298;NP_001116299;NP_060167;Q6NXG1;XP_005251048;XP_005251049 Hs.487471 1657726;1680912;1696012;1699866;1715735;2150092 G17260;RH103541;RH11853;RH119314;RH99323;SHGC-82785 FLJ20171;RBM35A;RMB35A OTTHUMP00000227006;OTTHUMP00000227007;OTTHUMP00000227008;OTTHUMP00000227009;OTTHUMP00000227012;OTTHUMP00000227013;RNA binding motif protein 35A;RNA-binding motif protein 35A;RNA-binding protein 35A APPROVED protein-coding ENSG00000104413 HGNC:25966 07881 612959 VALIDATED 1345028 ESRRAP1 estrogen-related receptor alpha pseudogene 1 13 13 13 q12.1 1195795 1197251 - 20133953 20135412 - 19559613 19561468 - 18065488;3267207;9344655 144847 ABBA01068556;AL359457;AMYH02027616;NG_001009 bA76K19.2 ESRRAP pseudo HGNC:3472 INFERRED 1626576 ESRRAP2 estrogen-related receptor alpha pseudogene 2 13 13 13 q12.11 2895996 2898184 + 21834308 21836496 + 21260091 21262362 + 18065488;23251661;3267207;9344655 144832 ABBA01068603;AL158032;AMYH02027658;NG_007350;U85258 1797062 BARC0081 ESTRRA pseudo HGNC:24647 INFERRED 1342767 ESRRB estrogen-related receptor beta This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 56875493 57005971 + 76837690 76968182 + 76323917 76501837 + 1580863;6480464;7240710;8554872;8699517 10072763;10598588;12477932;12508121;12529709;12654265;15598686;16332939;16439465;17920186;18071305;18179891;18509053;18775884;18846501;18957414;19196830;19755138;20080650;20301607;20379614;20400511;20634891;21177257;21561608;21802533;22951369;24667650;25023176;3267207;8889548;9344655;9398750 2103 E7EWD9;O95718 AB307714;ABBA01030678;ABBA01030679;ABBA01030680;ABBA01030681;ABBA01030682;AC008050;AC016543;AMYH02029546;AMYH02029547;AMYH02029548;AMYH02029549;AY451389;AY451390;BC131517;BM662795;CH471061;DR007211;HQ692852;KF455951;NG_012278;NM_004452;X51417;XM_005267404;XM_006720077;XM_006720078 AAG17472;AAG29619;AAI31518;AAI48478;AAS15571;AAS15572;ADZ17363;BAH02305;CAA35779;EAW81258;NP_004443;O95718;XP_005267461;XP_006720140;XP_006720141 Hs.435845 1337546;1717181;1761131;2129388;2129579;2146617;2147835;2168182;2172628;2176673;2179705 D14S53;G17789;G35549;G35572;G35837;G35885;G36305;RH121513;RH78883;SHGC-145134;STS-AA016239 DFNB35;ERR2;ERRb;ESRL2;NR3B2 ERR beta-2;ERR-beta;ERRbeta-2;OTTHUMP00000218238;OTTHUMP00000218239;OTTHUMP00000218240;OTTHUMP00000246609;estrogen receptor-like 2;estrogen-related nuclear receptor beta;nuclear receptor ERRB2;nuclear receptor subfamily 3 group B member 2;orphan nuclear receptor;steroid hormone receptor ERR2 APPROVED protein-coding ENSG00000119715 HGNC:3473 03700 602167;608565 REVIEWED 730826 ESRRA estrogen-related receptor alpha The protein encoded by this gene is a nuclear receptor that is closely related to the estrogen receptor. This protein acts as a site-specific transcription regulator and has been also shown to interact with estrogen and the transcripton factor TFIIB by direct protein-protein contact. The binding and regulatory activities of this protein have been demonstrated in the regulation of a variety of genes including lactoferrin, osteopontin, medium-chain acyl coenzyme A dehydrogenase (MCAD) and thyroid hormone receptor genes. A processed pseudogene of ESRRA is located on chromosome 13q12.1. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013] 11 11 11 q13 61399143 61410294 + 64072990 64084215 + 64305528 64316743 + 1625636;1625637;1580863;6480464;8554872 16286534;16755280 10598588;11165056;11437591;11574675;11984006;11986328;12181319;12397057;12477932;12522104;12560563;12579315;14610283;14701856;14978033;15231680;15231747;15302935;15318176;15337744;15598686;15604093;15821111;15883633;16024613;16150865;16439465;16681769;17053040;17157980;17294452;17418098;17418099;17488637;17509876;17556356;17631492;18174157;18328649;18331830;18418639;18509053;18660489;18673300;18697814;18778951;18974123;19061896;19064572;19138740;19171140;19264843;19276159;19389810;19429439;19453261;19471022;19491275;19505873;19546226;19608650;19622763;19822186;19913121;20067526;20211987;20351196;20400511;20484414;20497091;20561910;20628086;20668045;20838448;20851810;20870744;20961995;21102463;21177257;21190936;21447778;21449913;21486805;21506092;21513704;21546870;21596133;21732060;21734015;21949640;21988832;22014575;22082156;22096509;22242598;22266318;22333182;22939629;23123734;23275563;23403054;23516535;23525223;23680656;23700042;23720198;23788330;23836899;23975195;24216484;24250222;24425001;24457025;24979764;3267207;8224847;8621448;9058380;9271417;9286700;9344655;9395481;9824153 2101 F5GWT5;F5H0E9;H0YGT3;P11474;Q569H8 AB362579;ABBA01003296;AMYH02024932;AMYH02024933;AP001453;BC007915;BC011528;BC033701;BC063795;BC073956;BC092470;BC093720;BC093722;CH471076;DB478332;DQ514553;HQ692867;KF455402;L38487;NM_001282450;NM_001282451;NM_004451;X51416;XM_006718449;XM_006718450 AAB17015;AAH07915;AAH11528;AAH33701;AAH63795;AAH73956;AAH92470;AAH93720;AAH93722;ABF47104;ABZ92000;ADZ17378;BAF81543;CAA35778;EAW74245;EAW74246;EAW74250;NP_001269379;NP_001269380;NP_004442;P11474;XP_006718512;XP_006718513 Hs.110849 1660884;1685067;1792116;1792118;1797062;2154736;2167495;5126396;5492324 BARC0081;Esrra;G33076;PMC137182P2;PMC137182P3;RH92300;SGC30525;SHGC-11941;WI-8671 ERR1;ERRa;ERRalpha;ESRL1;NR3B1 ERR-alpha;OTTHUMP00000198089;OTTHUMP00000198090;OTTHUMP00000198091;OTTHUMP00000237048;estrogen receptor-like 1;estrogen related receptor, alpha;estrogen-related nuclear receptor alpha;nuclear receptor subfamily 3 group B member 1;steroid hormone receptor ERR1 APPROVED protein-coding ENSG00000173153 HGNC:3471 07210 601998 REVIEWED 1605047 ESRP2 epithelial splicing regulatory protein 2 ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009] 16 16 16 q22.1 52770943 52778629 - 68262450 68270136 - 68228547 68236233 - 6480464 12477932;14702039;15489334;15498874;18029348;19285943;19829082;20711167;21963094;21988832;22354987;24250222;24332808;7566098 80004 J3KRF2;J3QKU3;J3QQJ9;Q9H6T0 ABBA01025481;AC020978;AF289577;AK025571;AK025901;AMYH02032249;BC030146;BC052309;BC069241;BG721782;BU934976;BU943912;CH471092;NM_024939;T36047;XM_005256153;XM_006721273;XM_006721274 AAH30146;AAL55761;BAB15173;BAB15275;EAW83214;EAW83215;EAW83216;NP_079215;Q9H6T0;XP_005256210;XP_006721336;XP_006721337 Hs.436585;Hs.592053 1696932;1769692;1771207;2171941;2171943;2178187 A002B46;D16S3349;G19908;RH101936;RH16192;SGC32906 FLJ21918;FLJ22248;RBM35B OTTHUMP00000174864;RNA binding motif protein 35A;RNA binding motif protein 35B;RNA-binding motif protein 35B;RNA-binding protein 35B APPROVED protein-coding ENSG00000103067 HGNC:26152 07971 612960 VALIDATED 1350335 ESX1 ESX homeobox 1 This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010] X X X q22.1 103969308 103974187 - 103494719 103499599 - 104250038 104254918 - 1580863;6480464 11374906;12477932;14702039;15235584;15489334;15601583;15897875;16613891;17242862;17588961;20356899;20467438;21988832 80712 Q8N693 ABBA01019058;ABBA01019059;AK097704;AL049631;AMYH02040177;AY114148;BC042633;BC053599;CH471120;NG_016393;NM_153448 AAH42633;AAH53599;AAM62141;EAX02755;NP_703149;Q8N693 Hs.223782 1702158 DXS1460 ESX1L;ESXR1 ESX1-related protein;OTTHUMP00000023765;extraembryonic, spermatogenesis, homeobox 1 homolog;extraembryonic, spermatogenesis, homeobox 1-like;homeobox protein ESX1 APPROVED protein-coding ENSG00000123576 HGNC:14865 06503;08945 300154 REVIEWED 69213 ESR2 estrogen receptor 2 (ER beta) This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008] 14 14 14 q23.2 44751460 44862976 - 64693751 64805268 - 64184009 64338580 - 1581011;1581012;1581013;1581014;1581015;1581016;1581017;1580704;734949;734951;734950;1582269;1580863;735008;1626507;735007;1626508;1626506;2290017;2290023;2290024;4892064;5128669;5130191;5508791;5508813;5508776;5508784;5508817;5509039;5508810;5508792;5508794;4892252;5508844;5508847;5508846;5508850;5509042;5508738;5508768;5508820;5508854;5508732;5508735;5508772;5508843;5509040;6480464;8553064;8553066;8553058;7364908;8552984;8553051;8553199;8553211;8553243;8547944;8552985;7364962;7364801;7364946;8553063;7364951;7364800;7364911;7364791;7364765;8548497;8552983;8553056;8553061;2293866;7364758;8694122;8693347;8552977;8694094;8694118;8694092;8694101;8693380;8694123;8694344;8694176;8693346;8694090;8552978;8694103;8694174;8694087;8694116;8694106;8694110;8694115;8694127;8694129;8554872;8694095;8694096;8693382;8693348 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329;20581768;20586553;20596625;20599614;20599828;20615575;20615892;20623183;20628086;20634197;20634891;20655613;20660297;20664970;20673868;20680712;20696772;20716560;20734064;20827267;20850223;20857063;20859991;20920096;20927313;20945400;20956532;20960162;20962507;21062926;21080949;21106950;21117950;21120602;21124760;21132001;21145461;21152100;21173974;21182203;21196169;21199728;21200092;21203528;21207861;21220187;21262360;21266854;21269226;21269613;21271213;21317201;21323952;21344398;21397694;21410323;21435239;21443125;21444077;21476192;21487105;21492444;21493669;21498706;21511357;21520258;21525722;21546410;21597315;21623207;21629692;21632819;21640622;21658000;21665249;21673408;21673961;21689747;21695893;21699784;21732360;21733187;21734414;21749714;21762477;21764500;21767241;21823190;21832119;21866462;21874257;21901395;21924251;21951066;21972702;21979797;22001950;22038234;22052998;22052999;22086303;22092402;22105146;22114194;22155094;22156442;22183267;22228197;22231442;22238119;22245602;22248281;22260414;22266976;22270483;22271289;22271290;22271291;22271292;22271293;22271294;22271295;22295107;22296324;22302352;22305517;22311091;22313325;22324545;22328322;22331461;22336175;22347418;22347437;22349818;22370157;22374427;22378275;22383464;22392906;22407332;22451234;22451324;22463081;22463697;22465878;22486657;22531679;22544366;22556124;22577883;22580535;22583357;22586270;22590818;22593181;22615145;22622360;22622808;22669742;22678799;22710948;22729816;22744458;22759347;22800601;22808109;22808245;22810004;22820289;22836803;22884659;22906475;22921477;22982181;23000159;23018357;23024189;23028063;23030067;23055188;23056216;23056236;23060014;23106428;23143558;23149914;23173577;23190557;23199240;23265127;23274843;23305873;23350368;23362266;23399685;23436804;23437920;23460808;23463097;23475473;23487784;23491264;23523517;23549873;23579816;23580588;23584859;23614677;23619141;23625281;23639951;23658372;23677568;23749764;23752064;23756706;23774759;23794253;23806560;23812730;23817696;23857583;23860318;23873111;23885094;23885143;23923078;23932494;23951143;24068253;24080207;24101172;24126791;24148819;24188405;24217905;24225450;24260155;24269135;24274329;24319683;24338391;24340027;24366110;24376209;24430361;24449868;24457087;24625355;24671226;24722188;24743148;24835059;24881814;24938129;8197458;8221895;8769313;9121466;9267036;9325313;9329394;9398750;9443393;9473491;9501254;9506768;9636657;9671811;9685228;9765300;9773978;9892018 2100 F1D8N3;G3V5S2;Q0PTK2;Q7LCB3;Q92731 AB006589;AB006590;AB209620;ABBA01018351;ABBA01018352;ABBA01018353;ABBA01018354;ABBA01018355;ABBA01018356;AF014796;AF047463;AF051427;AF051428;AF060555;AF061054;AF061055;AF074598;AF074599;AF124790;AF191544;AF215937;AK292370;AL161756;AL355094;AMYH02029351;AMYH02029352;AMYH02029353;AMYH02029354;AY438022;AY640407;AY785359;BC024181;BX094834;BX247957;CH471061;CN366005;DQ777076;DQ777077;DQ838582;DQ838583;HQ692820;HQ692821;KC777381;KC777382;KC777383;KC777384;KC777385;KC777386;KC777387;KC777388;KJ534833;NG_011535;NM_001040275;NM_001214902;NM_001214903;NM_001271876;NM_001271877;NM_001291712;NM_001291723;NM_001437;NR_073496;NR_073497;NR_073505;X99101;XM_006720075;XM_006720076 AAC05751;AAC05985;AAC15234;AAC25602;AAC25603;AAC39784;AAC39785;AAD32580;AAG29940;AAH24181;AAV31779;ABG88022;ABH09189;ABH09190;ADZ17331;ADZ17332;AHW56473;BAA24953;BAA31966;BAD92857;BAF85059;CAA67555;CAD62297;EAW80845;EAW80846;EAW80847;EAW80848;EAW80849;EAW80850;EAW80851;EAW80852;EAW80853;EAW80854;NP_001035365;NP_001201831;NP_001201832;NP_001258805;NP_001258806;NP_001278641;NP_001278652;NP_001428;Q92731;XP_006720138;XP_006720139 Hs.660607;Hs.734038;Hs.734416 1339059;1661422;1773917;1793804;1847707;2132666;2136389;2140643;2181811 D14S1026;G35720;G35928;G35938;G36170;G36177;G36178;PMC29094P1;RH71305 ER-BETA;ESR-BETA;ESRB;ESTRB;Erb;NR3A2 OTTHUMP00000180647;OTTHUMP00000245359;OTTHUMP00000245360;OTTHUMP00000245361;OTTHUMP00000245362;OTTHUMP00000245363;OTTHUMP00000245364;OTTHUMP00000245365;estrogen nuclear receptor beta variant a;estrogen nuclear receptor beta variant b;estrogen receptor beta;estrogen receptor beta 4;nuclear receptor subfamily 3 group A member 2 APPROVED protein-coding ENSG00000140009 HGNC:3468 03390 601663 REVIEWED 1349366 ESRRG estrogen-related receptor gamma This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011] 1 1 1 q41 189900435 190535016 - 216676588 217311097 - 216503246 217137755 - 6480464;8554872 10048485;10072763;10428842;10707956;11864604;12107410;12180985;12181319;12470660;12477932;12715898;14651967;14702039;14963109;15342556;15489334;15598686;15604093;15821111;16344560;16439465;16681769;16710414;16990259;17157980;17488637;17706602;17761695;17846126;18005256;18328649;18509053;18510611;18582436;18673300;19019082;19171140;19304792;19415745;19690166;19821770;19822186;20379614;20395239;20398657;20400511;20516075;20838448;20883782;20889127;21153485;21177257;21348951;21459093;21546767;21757507;21832049;21911493;22049338;22549789;22763271;23050013;23051957;23377640;23540940;23584901;23589079;23602568;23648065;23743675;23977052;24083978;24125170;24376456;24684682;24687322;8889548;8889549;9676434 2104 B7Z5E9;C0SQ93;C9J0E3;C9J5W9;C9JNX5;C9JU32;F1D8R5;F1D8R6;K7EM35;P62508 AA167816;AB020639;AB307715;AB362218;ABBA01048116;ABBA01048117;ABBA01048118;ABBA01048119;ABBA01048120;ABBA01048121;ABBA01048122;AC096634;AC096635;AF058291;AF094518;AF117255;AK001811;AK131193;AK290945;AK291028;AK291647;AK298851;AL391216;AL445650;AL512626;AL512650;AL513312;AL603752;AMYH02002686;AMYH02002687;AMYH02002688;AMYH02002689;AMYH02002690;AMYH02002691;AMYH02002692;AMYH02002693;AMYH02002694;AMYH02002695;AMYH02002696;AY388456;AY388457;AY388458;AY388459;AY388460;AY388461;AY528719;BC008218;BC064700;BM723962;BP349857;BU752915;BX486063;BX647076;BX649009;CA397450;CF594270;CH471100;CR749497;DA720944;DA722064;DB220304;HQ692853;HQ692854;NG_029784;NM_001134285;NM_001243505;NM_001243506;NM_001243507;NM_001243509;NM_001243510;NM_001243511;NM_001243512;NM_001243513;NM_001243514;NM_001243515;NM_001243518;NM_001243519;NM_001438;NM_206594;NM_206595;XM_006711203;XM_006711204;XM_006711205;XM_006711206;XM_006711207;XM_006711208;XM_006711209 AAC39899;AAC99410;AAD48370;AAH08218;AAH64700;AAQ93376;AAQ93377;AAQ93378;AAQ93379;AAQ93380;AAQ93381;AAS00098;ABZ92001;ACE86957;ACE87648;ADZ17364;ADZ17365;BAA74855;BAF83634;BAF83717;BAF84336;BAG54746;BAH02306;BAH12885;BAH36764;CAH18320;EAW93335;NP_001127757;NP_001230434;NP_001230435;NP_001230436;NP_001230438;NP_001230439;NP_001230440;NP_001230441;NP_001230442;NP_001230443;NP_001230444;NP_001230447;NP_001230448;NP_001429;NP_996317;NP_996318;P62508;XP_006711266;XP_006711267;XP_006711268;XP_006711269;XP_006711270;XP_006711271;XP_006711272 Hs.444225;Hs.738938 1338031;1340851;1341225;1646391;1682776;1691826;1692202;1692488;1692794;1710460;1711238;1712857;1719211;1753035;1764011;1776297;1777622;1792112;1792114;1797510;1848159;1850537;2121810;2133615;2133772;2139304;2152119;2156545;5017871;5022450;5022588;7184998;7186275 144XF2;242XF6;AL010110;AL033738;AL033895;AL033966;AL034041;D10S275;D1S1838E;D1S227;D1S229;D1S2422;D1S2424;D1S3320;D1S490;D5S1597E;ESRRG;ESRRG_2260;G18039;G20464;PMC137182P10;PMC137182P11;RH120145;RH123324;RH16932;SHGC-147669;SHGC-56916;SHGC-79099;SHGC-84976;SHGC-86241;WI-12511 DKFZp781L1617;ERR3;ERRgamma;FLJ16023;KIAA0832;NR3B3 ERR gamma-2;OTTHUMP00000035075;OTTHUMP00000035076;OTTHUMP00000035092;OTTHUMP00000035095;OTTHUMP00000035115;OTTHUMP00000035116;OTTHUMP00000035126;OTTHUMP00000216805;OTTHUMP00000216806;OTTHUMP00000216807;OTTHUMP00000216808;OTTHUMP00000216812;estrogen receptor-related protein 3;estrogen-related nuclear receptor gamma variant 1;estrogen-related nuclear receptor gamma variant 2;nuclear receptor subfamily 3 group B member 3 APPROVED protein-coding ENSG00000196482 HGNC:3474 04274 602969 REVIEWED 1605327 ESYT3 extended synaptotagmin-like protein 3 ENCODES a protein that exhibits lipid binding (inferred); metal ion binding (inferred); INVOLVED IN lipid transport (inferred); FOUND IN extrinsic component of cytoplasmic side of plasma membrane; integral component of plasma membrane; intrinsic component of endoplasmic reticulum membrane; INTERACTS WITH 17beta-estradiol; arsenite(3-); fonofos 3 3 3 q22.3 136578324 136622170 + 138153415 138197910 + 138434573 138479942 + 6480464 10737800;11543631;12477932;15238157;16344560;17360437;17672888;21733517;23791178 83850 A0FGR9;H7BXJ6 ABBA01059093;AC022497;AJ303366;AJ697972;AK125080;AK289530;AMYH02007769;AW513592;AW792835;BC037292;BQ435892;DA726011;DQ993202;NM_031913;XM_006713776;XM_006713777;XR_427381 A0FGR9;AAH37292;ABJ97707;BAF82219;CAC33888;NP_114119;XP_006713839;XP_006713840 Hs.477711 2150719 RH48298 CHR3SYT;E-Syt3;FAM62C OTTHUMP00000190864;OTTHUMP00000216900;chr3 synaptotagmin;extended synaptotagmin-3;family with sequence similarity 62 (C2 domain containing), member C protein-coding ENSG00000158220 HGNC:24295 13054 VALIDATED 1345726 ETF1P2 eukaryotic translation termination factor 1 pseudogene 2 7 7 7 q36.1 145756393 145758873 + 151198918 151201398 + 151501832 151504312 + 10413110;1546371 6825 ABBA01035154;AC005996;AF112357;AMYH02017074;NG_001198 SUP45L3 pseudo HGNC:3479 INFERRED 1604009 ETAA1 Ewing tumor-associated antigen 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; copper(2+) sulfate 2 2 2 p14 67473171 67486260 + 67624442 67637540 + 67397310 67410408 + 6480464;8554872 12477932;16003559;18029348;21963094;23966867;24024966 54465 Q9NY74 ABBA01075469;ABBA01075470;AC023668;AJ242682;AK025155;AK026300;AMYH02003995;AW978869;BC033075;BC040001;CH471053;NM_019002;XM_005264374;XM_005264375;XM_005264376;XM_005264377;XM_005264378 AAH33075;AAH40001;AAX93100;CAB76378;EAW99888;NP_061875;Q9NY74;XP_005264431;XP_005264432;XP_005264433;XP_005264434;XP_005264435 Hs.353022 1721955;2125048 G59863;RH46083 ETAA16;FLJ22647 OTTHUMP00000159942;ewing's tumor-associated antigen 1;ewing's tumor-associated antigen 16 protein-coding ENSG00000143971 HGNC:24648 13282 613196 VALIDATED 1351224 ETF1P1 eukaryotic translation termination factor 1 pseudogene 1 6 6 6 p21.3 31597615 31599979 + 29999490 30001654 + 30031713 30033877 + 10413110;10727083;1546371 6824 ABBA01038041;AF055066;AL669914;AL671859;AL845439;AMYH02013426;BX088647;BX927229;CR388205;CR759763;CR759960;NG_001028 1678429;1685449 RH41003;RH79934 HCGVII;SUP45L2 pseudo HGNC:3478 INFERRED 733690 ESYT1 extended synaptotagmin-like protein 1 ENCODES a protein that exhibits lipid binding (inferred); metal ion binding (inferred); INVOLVED IN lipid transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of endoplasmic reticulum membrane; membrane; INTERACTS WITH cobalt dichloride; diazinon; methotrexate 12 12 12 q13.2 56174129 56190606 + 56521985 56547259 + 56128202 56144676 + 6480464;8554872 10350628;11972353;12477932;14702039;15489334;15592455;16344560;17110338;17672888;18781797;19738201;19946888;21139048;21319273;21779181;21890473;21906983;21963094;21987572;22053931;22505724;22623428;22659450;22797925;22939629;23000965;23791178;24147044;24332808;24583282;24816145;8125298;9872452 23344 F8VZB1;Q9BSJ8 AB018290;ABBA01008405;ABBA01008406;AC034102;AJ346011;AK022790;AK025463;AK025878;AK074368;AK128730;AK225035;AK290337;AL050134;AMYH02026562;BC004998;BC013880;CH471054;DB100366;DQ993200;NM_001184796;NM_015292 AAH04998;ABJ97705;ACE87024;ACE87711;BAA34467;BAB15139;BAB15268;BAF83026;BAG51117;BAG54718;CAB43284;EAW96890;EAW96891;EAW96892;EAW96893;NP_001171725;NP_056107;Q9BSJ8 Hs.632729 1850558 RH44882 FAM62A;KIAA0747;MBC2 OTTHUMP00000243205;OTTHUMP00000243206;extended synaptotagmin-1;family with sequence similarity 62 (C2 domain containing), member A;membrane-bound C2 domain-containing protein protein-coding ENSG00000139641 HGNC:29534 14367 VALIDATED 1313906 ETF1 eukaryotic translation termination factor 1 This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug 2013] 5 5 5 q31.1 133963667 134000818 - 137841782 137878989 - 138506093 138543300 - 6480464;6907045 10413110;10676813;10702684;10773672;11358506;11779511;11790298;12356746;12426392;12477932;12665801;12867083;12909007;15174051;15326224;1537561;1546371;15489334;15635413;15716307;16189514;16282590;16344560;16452507;16797113;18056425;18187620;18256688;18447585;18539146;18781797;19140327;19265422;19615732;20418372;20688868;21139048;21602268;21890473;21906983;22383581;22517631;22863883;22990118;23000965;23091004;23435318;24163370;24486019;24816145;7759135;7990965;9003791;9620853;9712840;9928949 2107 B7Z7P8;D6RCB3;D6RJE8;I3L492;P62495 ABBA01068668;ABBA01068669;AC011385;AC113403;AF095901;AK302364;AK309875;AK312510;AL553004;AMYH02012294;AMYH02012295;AMYH02012296;AMYH02012297;AW131045;BC014269;BC088358;BI460904;BM819293;BT007374;CH471062;DB060174;DC297662;M75715;NM_001256302;NM_001282185;NM_001291974;NM_001291975;NM_004730;U90176;X80916;X81625;XM_005271920;XM_005271921 AAA36665;AAB49726;AAD43966;AAH14269;AAH88358;AAP36038;ABM81632;ABM84816;BAG35411;BAH13684;CAA57281;EAW62130;EAW62131;EAW62132;EAW62133;EAW62134;NP_001243231;NP_001269114;NP_001278903;NP_001278904;NP_004721;P62495;XP_005271977;XP_005271978 Hs.483494 1340019;1678429;1685449;5114055;7187367 D5S500;RH41003;RH79934;RH80626 D5S1995;ERF;ERF1;MGC111066;RF1;SUP45L1;TB3-1 OTTHUMP00000159485;OTTHUMP00000224067;OTTHUMP00000224068;eukaryotic peptide chain release factor subunit 1;eukaryotic release factor 1;polypeptide chain release factor 1;protein Cl1;sup45 (yeast omnipotent suppressor 45) homolog-like 1 APPROVED protein-coding ENSG00000120705 HGNC:3477 02616 600285 REVIEWED 736559 ESR1 estrogen receptor 1 This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Mar 2014] 6 6 6 q25.1 152745469 153158143 + 152011631 152424409 + 151690496 152103274 + 1580335;1580337;1580338;1331525;1358612;1601096;1580863;1626508;2314003;2314005;2314012;2306775;2290017;2290041;2290020;2290022;2290023;2290024;2290043;2290042;2290019;2314014;2314020;4892064;4892303;4892299;4892255;4892301;4892302;4892312;4892253;4892300;5128669;5130191;6480464;6484113;7240710;8553057;8553064;8553066;8553211;8552976;8553058;8553242;8552981;4105451;734947;8552986;8553199;8553243;8547944;8553220;8553241;8553052;8553067;7242068;8552978;8548497;8552977;8552983;8553054;8552980;8552982;8552979;8552987;8553053;2293866;8553065;8699517;8554872 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2099 A8KAF4;B0QYW7;G4XH65;H0Y4W6;P03372;Q5T5H8;Q9H2M1;Q9UBT1;Q9UE35 AB307713;AB588629;AB588630;AB685814;AB685815;AB685816;AB685817;AB685818;AB685819;AB685820;ABBA01025629;ABBA01025630;AF120105;AF258449;AF258450;AF258451;AF326912;AJ002561;AJ002562;AJ421639;AK293019;AK304600;AK304833;AK309580;AK311064;AK313644;AL035695;AL049821;AL078582;AL356311;AL590993;AMYH02014728;AMYH02014729;AMYH02014730;AMYH02014731;AY425004;AY750962;BC128573;BC128574;BE084831;BX640939;CH471051;CS405710;DA329077;DB285906;DQ163909;EF491789;EU447161;EU921455;EU930361;EU982838;EU982839;EU982840;FJ011556;FJ011557;FJ011558;FJ011559;FJ011560;FJ147552;FJ147553;FJ147554;FJ147555;FJ147556;FJ147557;FJ147558;FJ169500;FJ169501;FJ169502;FJ169503;FJ169504;FJ668387;FJ712305;FJ712306;FJ712307;FJ716811;FJ716812;FJ716813;FJ716814;FJ716815;GQ366704;GQ389792;GQ411250;GQ411251;GQ411252;GQ411253;GQ411254;GQ411255;GQ411256;GQ411257;GQ411258;GQ438789;GQ438790;GQ438791;GQ438792;GQ438793;JF810888;KF458326;KF458327;M12674;M69297;NG_008493;NM_000125;NM_001122740;NM_001122741;NM_001122742;NM_001291230;NM_001291241;S79911;S80316;U47678;U68067;U68068;X03635;X62462;X73067;X74439;X86816;XM_006715374;XM_006715375;Z75126 AAA52399;AAA58462;AAB00115;AAB21301;AAB35900;AAC51874;AAC51875;AAD23565;AAG41358;AAG41359;AAG41360;AAG42501;AAI28574;AAI28575;AAQ91815;AAW69860;ABA41493;ACH41916;ACH61905;ACH73261;ACH73262;ACH73263;ACI01724;ACI01725;ACI01726;ACI01727;ACI01728;ACI01729;ACI01730;ACI04255;ACI04256;ACI04257;ACI04258;ACI04259;ACI06210;ACI06211;ACI06212;ACI06213;ACI06214;ACN41854;ACN66633;ACN66634;ACN66635;ACN89822;ACN89823;ACN89824;ACN89825;ACN89826;ACU29456;ACV04432;ACV41785;ACV41786;ACV41787;ACV41788;ACV41789;ACV41790;ACV41791;ACV41792;ACV41793;ACV88147;ACV88148;ACV88149;ACV88150;ACV88151;AEP43755;BAF85708;BAG65386;BAG65577;BAH02304;BAJ41265;BAJ41266;BAM62930;BAM62931;BAM62932;BAM62933;BAM62934;BAM62935;BAM62936;CAA05559;CAA05560;CAA27284;CAA44322;CAA51528;CAA99436;CAD97416;CAE45969;CAL40514;EAW47740;EAW47741;NP_000116;NP_001116212;NP_001116213;NP_001116214;NP_001278159;NP_001278170;P03372;XP_006715437;XP_006715438 Hs.208124;Hs.744830 1335920;1651046;1668252;1669579;1671617;1693324;1699998;1710038;1740287;1741621;1741813;1742343;1751509;1791388;1792178;1794856;1794858;1795252;2113818;2167510;2167594;5015607;5015609;5022637;5118412 AL034435;D11S2766;D11S3014;D11S3026;D11S3270;D6S1313;D6S1315;D6S1846;D6S440;DXS257;ESR1;ESR1_43;GDB:181591;GDB:185229;GDB:196364;PMC108984P2;PMC13912P1;PMC60225P1;PMC60225P2;RH103609;RH46867;SHGC-105338;SHGC-1854;SHGC-82295;STS-N31971 DKFZp686N23123;ER;ESR;ESRA;ESTRR;Era;NR3A1 ER-alpha;OTTHUMP00000017718;OTTHUMP00000017719;estradiol receptor;estrogen nuclear receptor alpha;estrogen receptor;estrogen receptor alpha 3*,4,5,6,7*/822 isoform;estrogen receptor alpha E1-E2-1-2;estrogen receptor alpha E1-N2-E2-1-2;estrogen receptor alpha delta 3*,4,5,6,7*,8*/941 isoform;estrogen receptor alpha delta 3*,4,5,6,7*/819-2 isoform;estrogen receptor alpha delta 4 +49 isoform;estrogen receptor alpha delta 4*,5,6,7*/654 isoform;estrogen receptor alpha delta 4*,5,6,7,8*/901 isoform;nuclear receptor subfamily 3 group A member 1 1643367;1643404;1643502;2289445 BMD3_H;BW265_H;BW323_H;BW415_H APPROVED protein-coding ENSG00000091831 HGNC:3467 00589 114480;133430;157300;608446;615363 REVIEWED 1343202 ETF1P3 eukaryotic translation termination factor 1 pseudogene 3 X X X q12 65361325 65365009 + 65014187 65017871 + 65794345 65798029 + 10413110;1546371 100132121 ABBA01067048;ABBA01067049;AF110131;AL450487;AMYH02039615;NG_009869 SUP45L4 pseudo HGNC:3480 INFERRED 1348511 ETM1 essential tremor 1 ASSOCIATED WITH Schizophrenia (inferred); Tremor hereditary essential, 1 (inferred) 7240710 9288103 2111 HGNC:3486 181500;190300 1347524 ETFB electron-transfer-flavoprotein, beta polypeptide This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 48900014 48920754 - 51848409 51869672 - 51345155 51366418 - 1580863;2317589;6480464;7240710;8699517;8554872 14728676 10356313;12477932;12815589;14702039;15489334;15498874;15975918;16510302;1677763;18029348;19088074;19208393;20674745;20877624;21139048;21832049;21903359;22588007;22939629;23068445;23125841;23798571;23874603;24250222;24583282;7912128;8188225;8504797;8617498;8962055 2109 M0QY67;P38117 ABBA01068274;AC008750;AF370381;AF436663;AK055285;AK128845;AK291881;AL833205;AMYH02036379;BC093961;BC093963;BG281641;BG399783;CH471135;CR456827;HB887243;HC944652;NG_007115;NM_001014763;NM_001985;X71129;X76067 AAH93961;AAH93963;AAN03713;AAQ15217;BAF84570;BAG51494;CAA50441;CAB37832;CAG33108;CBF67773;CBU92647;EAW72004;NP_001014763;NP_001976;P38117 Hs.348531 1665735;1743791;5022637 D11S2766;GDB:373700;RH11652 FP585;MADD beta-ETF;electron transfer flavoprotein beta subunit;electron transfer flavoprotein beta-subunit;electron transfer flavoprotein subunit beta;electron transfer flavoprotein, beta polypeptide;electron-transferring-flavoprotein, beta polypeptide APPROVED protein-coding ENSG00000105379 HGNC:3482 00557 130410;231680 REVIEWED 1606520 ESYT2 extended synaptotagmin-like protein 2 ENCODES a protein that exhibits calcium ion binding; calcium-dependent phospholipid binding; identical protein binding; INVOLVED IN endocytosis (inferred); lipid transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extrinsic component of cytoplasmic side of plasma membrane; integral component of plasma membrane; intrinsic component of endoplasmic reticulum membrane; INTERACTS WITH (-)-demecolcine; aflatoxin B1; benzo[a]pyrene diol epoxide I 7 7 7 q36.3 152956246 153054446 - 158523688 158622729 - 158730998 158829628 - 6480464;8554872 10574462;11543631;12168954;12477932;12690205;14702039;15302935;15489334;16396496;17360437;17672888;19738201;19946888;20562859;21139048;21890473;21987572;22505724;22939629;22990118;23602568;23791178;24847877;25027693 57488 A0FGR8;H7BXI1 AB033054;ABBA01032306;ABBA01032307;ABBA01032308;ABBA01032309;ABBA01032310;AC019084;AJ303365;AK001181;AK026710;AK056953;AK124091;AK126214;AK308824;AL833233;AMYH02017185;AY368150;BC013957;CH236954;CH471149;DQ993201;NM_020728 A0FGR8;AAH13957;AAI52807;AAR89381;ABJ97706;BAA86542;BAA91539;BAC85769;BAC86489;CAC33887;CAH10642;EAL23931;EAX04590;EAX04591;NP_065779 Hs.490795 1663822;1671181;1686172;1720973;1777614;1847755;1849477;2117928;2124075;2124912;2162467;2167291;2186539;5020948;5022200;5022322;5022578;5022588;5022651 A008Y29;D11S2560;D11S2921;D1S1423;D5S1597E;D7S2077E;D7S2310;D7S2781;D7S68;G35510;G59316;GDB:1317774;GDB:1318102;L18426;RH92435;STS-AA037744;STS-N29903;WI-11602;WIAF-1620 CHR2SYT;E-Syt2;FAM62B;KIAA1228 OTTHUMP00000200002;OTTHUMP00000200003;chr2 synaptotagmin;extended synaptotagmin-2;family with sequence similarity 62 (C2 domain containing) member B;family with sequence similarity 62 (C2 domain containing), member B protein-coding ENSG00000117868 HGNC:22211 13053 VALIDATED 1352412 ETM2 essential tremor 2 ASSOCIATED WITH Tremor hereditary essential, 2 (inferred) 7240710 9399207 2112 1334801;1338382 D2S2150;D2S220 HGNC:3487 602134 1317846 ETNK1 ethanolamine kinase 1 This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 12 12 12 p12.1 27925902 27991433 + 22778076 22843608 + 22625142 22690674 + 1580863;6480464;6907045 11044454;11912161;12477932;15489334;19913121;19946888;20379614;20628086;21139048;21890473;21906983;21963094;22053931;22505724;23000965 55500 H0YFP7;H0YH69;Q9HBU6 AB074182;ABBA01067987;AC087241;AF207600;AK027113;AK074425;AL110180;AL117563;AL137750;AMYH02026180;BC006111;BC037324;BC045794;BC066907;BT007084;CH471094;CR749601;NM_001039481;NM_018638;XM_005253420 AAF71220;AAH06111;AAH66907;AAP35747;ADZ15599;BAE45742;CAH56371;EAW96478;EAW96479;EAW96480;NP_001034570;NP_061108;Q9HBU6;XP_005253477 Hs.29464 1643683;1684387;1685025;1697772;1758609 RH102410;RH92963;RH98845;SHGC-148915;STS-H56029 EKI;EKI 1;EKI1;Nbla10396 OTTHUMP00000239920;OTTHUMP00000239921;OTTHUMP00000239922;putative protein product of Nbla10396 APPROVED protein-coding ENSG00000139163 HGNC:24649 09934 609858 REVIEWED 1354191 ETFDH electron-transferring-flavoprotein dehydrogenase This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013] 4 4 4 q32-q35 156934316 156970701 + 159593277 159629842 + 158672101 158708713 + 1580863;2317589;6480464;7240710;8699517;8554872 14728676 12049629;12359134;12477932;12815589;14640977;15489334;16344560;17050691;17412732;17584774;18037314;19208393;19249206;19265687;19758981;20037589;20138856;20370797;20877624;21088898;21139048;21347544;21886157;22611163;24123825;24250222;24654937;24816145;25119904;8306995;8617498 2110 AAB24227;B4DEQ0;D6RAD5;D6RJF8;Q16134 ABBA01070208;AC107219;AF449444;AK293737;AK304838;AK311435;AK314803;AMYH02010374;AMYH02010375;AMYH02010376;BC011890;BX538129;BX957055;CH471056;DA319656;DA798232;DB221748;EU093082;EU093083;NG_007078;NM_001281737;NM_001281738;NM_004453;S69232 AAB24227;AAC60628;AAH11890;AAN03724;ABU55401;ABU55402;BAG37331;BAG57161;BAG65581;CAD98030;EAX04854;NP_001268666;NP_001268667;NP_004444;Q16134 Hs.155729 2151195;2179137;5014865;5015961 D12S1332;D15S1477;D4S3142;SHGC-59334 ETF-QO;MADD ETF dehydrogenase;ETF-ubiquinone oxidoreductase;ETFQO;OTTHUMP00000220566;OTTHUMP00000220838;electron transfer flavoprotein ubiquinone oxidoreductase;electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial APPROVED protein-coding ENSG00000171503 HGNC:3483 01978 231675;231680 REVIEWED 1342675 ETFA electron-transfer-flavoprotein, alpha polypeptide ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q23-q25 53434725 53530031 - 76508628 76603810 - 76216287 76311469 - 1580863;2317589;6480464;7240710;8699517 14728676 10356313;10423253;10527805;11756429;12477932;12815589;1430199;15489334;16344560;16510302;17081983;17314511;17689999;18029348;18624398;1882842;19208393;20186120;20562859;20674745;20877624;21081666;21139048;21219902;21308847;21890473;21906983;21963094;22491018;22863883;22939629;23874603;24394546;24583282;25027693;3053288;3170610;8617498;8962055;9334218 2108 H0YK49;H0YKF0;H0YL12;H0YL83;H0YLU7;H0YM12;H0YMU8;H0YNX6;H3BV91;J3KN60;P13804 AA557337;ABBA01060546;ABBA01060547;ABBA01060548;ABBA01060549;ABBA01060550;AC027243;AC091100;AF436657;AJ224002;AK292979;AK300044;AMYH02030827;AMYH02030828;AMYH02030829;AMYH02030830;AMYH02030831;AMYH02030832;BC015526;BC029995;BC034156;BC095457;BG261160;BT009796;BU176141;CH471136;DA838974;J04058;NG_007077;NM_000126;NM_001127716 AAA52406;AAH15526;AAH95457;AAN03712;AAP88798;BAF85668;BAG61855;CAA11802;EAW99221;EAW99222;NP_000117;NP_001121188;P13804 Hs.39925 1643950;1644134;1673687;2114424;2143932;2149988 D15S922;D15S925;STS-H78599;STS-J04058;WI-18782;WI-20018 EMA;GA2;MADD alpha-ETF;electron transfer flavoprotein alpha-subunit;electron transfer flavoprotein subunit alpha, mitochondrial;electron transfer flavoprotein, alpha polypeptide;glutaric aciduria II APPROVED protein-coding ENSG00000140374 HGNC:3481 01979 231680;608053 REVIEWED 1322274 ETHE1 ethylmalonic encephalopathy 1 This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy.[provided by RefSeq, May 2009] 19 19 19 q13.31 40811624 40834029 - 44010871 44031408 - 43506719 43527244 - 1580863;6480464;7240710;8554872;8699517 11076863;11256614;12398897;12477932;14732903;15057824;15489334;15489336;16169070;16183799;16381901;16929096;17353187;18029348;18187620;18593870;19136963;20877624;20978941;21832049;21890473;21906983;23000965;23144459;23874603;24654937;24816145 23474 B2RCZ7;M0QX80;M0QXB5;M0QY80;O95571 ABBA01040862;AC018758;AI879202;AK309880;AK315346;AMYH02036164;AMYH02036165;BC008250;CH471126;D83198;NG_008141;NM_014297;XM_005258687;XM_005258688 AAG09063;AAH08250;BAA34595;BAG37744;CAL37682;EAW57195;EAW57196;EAW57197;NP_055112;O95571;XP_005258744;XP_005258745 Hs.7486 1337240;5491778 D19S537;ETHE1 HSCO;YF13H12 ethylmalonic encephalopathy protein 1;hepatoma subtracted clone one protein;persulfide dioxygenase ETHE1, mitochondrial;protein ETHE1, mitochondrial;sulfur dioxygenase ETHE1 APPROVED protein-coding ENSG00000105755 HGNC:23287 09764 602473;608451 REVIEWED 1313254 ETNK2 ethanolamine kinase 2 The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 q32.1 177235433 177256557 - 204100190 204121307 - 204131062 204152179 - 737633;1580863;6480464;6907045;8554872 12477932 11044454;14702039;15161093;16189514;16861741;18953568;19060904;19536175;21177773;24024966 55224 B7Z1G7;B7ZC34;B7ZC35;H0Y771;Q5SXX4;Q5SXX7;Q5SXX8;Q9NVF9 AA854978;AB073608;ABBA01027451;ABBA01027452;AK001623;AK293426;AK302145;AK316493;AL592146;AMYH02002532;AX405837;BC010082;CH471067;DB454429;NM_001297760;NM_001297761;NM_001297762;NM_018208;XM_005245302;XM_005245303;XM_005245304 AAH10082;BAA91793;BAD38645;BAH11503;BAH13637;BAH14864;CAD34944;EAW91501;EAW91502;EAW91503;EAW91504;NP_001284689;NP_001284690;NP_001284691;NP_060678;Q9NVF9;XP_005245359;XP_005245360;XP_005245361 Hs.497469 1855446;2109293;2131581 D1S3616;ETNK2_9886;SHGC-76191 EKI 2;EKI2;FLJ10761;HMFT1716;RP11-74C13.2 OTTHUMP00000034313;OTTHUMP00000034314;ethanolamine kinase-like protein APPROVED protein-coding ENSG00000143845 HGNC:25575 13283 609859 REVIEWED 1351650 ETV2 ets variant 2 ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (inferred); sequence-specific DNA binding (inferred); INVOLVED IN blastocyst development (inferred); blood vessel morphogenesis (inferred); BMP signaling pathway involved in mesodermal cell fate specification (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; nickel sulfate; 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 q13.12 32846129 32849256 + 36132647 36136007 + 35641745 35644871 + 1580863;6480464 12087183;12477932;1340465;14702039;15057824;16344560;16619273;18270322;22505724 2116 K7ERX2;O00321;Q3KNT2;S4R454 AA885210;ABBA01018751;AC002115;AF000671;AK097439;AMYH02035986;BC040908;BC107123;BC107124;BC140746;BC144448;DB046527;HY053182;JC009158;JC261284;NM_001300974;NM_014209;XM_005258652;XM_005258653;XM_005258654 AAB57630;AAD00861;AAI07124;AAI07125;AAI40747;AAI44449;AAI60032;BAG53472;CDL93509;CDM55457;NP_001287903;NP_055024;O00321;XP_005258709;XP_005258710;XP_005258711 Hs.194061 5124946 RH98938 ER71;ETSRP71;MGC129834;MGC129835 ETS translocation variant 2;OTTHUMP00000197798;OTTHUMP00000197799;ets variant gene 2;ets-related protein 71 protein-coding ENSG00000105672 HGNC:3491 16871 609358 VALIDATED 1352353 ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2 This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 21 21 21 q22.2 25375600 25394615 + 40177231 40196879 + 38805307 38824955 + 1580863;6480464 10212281;10358095;10377039;10815800;10830953;10918595;10942770;11027273;11279115;11313931;11689681;11752456;11909962;12095911;12174931;12477932;12511603;12532432;12637547;12646185;12743594;12860972;12894593;14507917;14702039;14722092;15231748;15489334;15572696;15788656;15806151;15900611;16263717;16780588;16953216;17703088;17921261;17975022;17986575;18059336;18094719;18242510;18374905;18586674;18598946;18801734;18848526;18854154;18942749;19318269;19407855;19453261;19939245;20145133;20379614;20398657;20554528;20671229;21079520;21241890;21526717;21562315;21693764;21700929;21763315;2186967;21963094;21987572;22048266;22128184;22221250;22298639;22354960;22446105;22505724;2250910;22615925;22819965;22826236;22922762;23343470;23416888;23530240;23542016;23589550;23659968;23977064;24024966;24362029;24816145;25117710;2847145;2997781;3021321;3285299;8596630;9334186;9681824 2114 C9JAG2;P15036 AA452482;ABBA01011089;ABBA01011090;AF017257;AK000535;AK096841;AK315563;AL163278;AMYH02037818;AMYH02037819;AP001040;AP001041;AP001732;AV661268;BC017040;BC042954;BT006838;CH471079;J04102;M11922;NM_001256295;NM_005239;X55181;XM_005260935 AAA52411;AAA52412;AAB94057;AAH17040;AAH42954;AAP35484;ABM84763;ABW03617;BAA95514;BAG37939;CAA38966;CAB90468;EAX09673;EAX09674;EAX09675;EAX09676;NP_001243224;NP_005230;P15036;XP_005260992 Hs.644231 1644313;1704280;1741795;1742137;2172552;2181769;2184037;2184582;2186529;2190849;2217314 D21S1843;D21S1956;D21S1959;ETS2_3362;ETV2;GDB:185172;GDB:192320;SHGC-51836;SHGC-6939;SHGC-83279;WI-9128 ETS2IT1 OTTHUMP00000115973;OTTHUMP00000115974;OTTHUMP00000115976;oncogene ETS-2;protein C-ets-2;v-ets avian erythroblastosis virus E2 oncogene homolog 2;v-ets erythroblastosis virus E26 oncogene homolog 2 APPROVED protein-coding ENSG00000157557 HGNC:3489 01263 164740 REVIEWED 1348851 ETV3 ets variant 3 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); FOUND IN transcriptional repressor complex (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 4-hydroxynon-2-enal; all-trans-retinoic acid 1 1 1 q21-q23 130165650 130179574 - 157094459 157108383 - 157121191 157138591 - 1580863;6480464 12007404;12477932;14754893;15489334;16710414;17525531;18025162;18029348;18951430;18976975;21150319;21832049;21890473;21963094;23000965;23329352;23455924;23667531;24816145;8020980 2117 P41162 ABBA01016640;AF218540;AK304789;AK316274;AL157713;AMYH02001989;BC022868;CH471121;L16464;NM_001145312;NM_005240;XM_006711210 AAA60949;AAH22868;AAK56846;ABM84081;ABM87757;BAG65539;BAH14645;EAW52888;EAW52889;NP_001138784;NP_005231;P41162;XP_006711273 Hs.105636 1739403;2108761;2122196;2123451 D1S2332E;D1S3438;ETV3_3364.2;RH17623 FLJ79173;METS;PE-1;PE1;bA110J1.4 ETS domain transcriptional repressor PE1;ETS translocation variant 3;OTTHUMP00000032196;OTTHUMP00000032197;ets variant gene 3, ETS family transcriptional repressor;mitogenic Ets transcriptional suppressor protein-coding ENSG00000117036 HGNC:3492 01282 164873 VALIDATED 6481401 ETV5-AS1 ETV5 antisense RNA 1 100873934 AC131156 APPROVED ncrna HGNC:40222 1603450 ETV3L ets variant 3-like ENCODES a protein that exhibits sequence-specific DNA binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); all-trans-retinoic acid (ortholog) 1 1 1 q23.1 130133025 130140792 - 157061835 157069600 - 157092043 157099808 - 6480464;8554872 18951430 440695 Q6ZN32 AA723297;ABBA01016640;AK131392;AL157713;AMYH02001989;CH471121;NM_001004341 BAD18543;EAW52891;NP_001004341;Q6ZN32 Hs.127138 FLJ16478 ETS translocation variant 3-like protein;OTTHUMP00000225052;ets variant gene 3-like protein-coding ENSG00000253831 HGNC:33834 13365 VALIDATED 1320007 ETV5 ets variant 5 ENCODES a protein that exhibits RNA polymerase II regulatory region sequence-specific DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; sequence-specific DNA binding transcription factor activity; INVOLVED IN cellular response to oxidative stress; positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-nitropyrene; 17alpha-ethynylestradiol 3 3 3 q28 184202650 184264752 - 185764106 185826901 - 186046317 186109112 - 1580863;6480464;8554872 11509567;11840567;12036888;12387735;12477932;15489334;15534105;15620692;15652352;15857832;16613858;16615918;17489097;17638886;18172298;19079260;19322201;19443906;19471022;19692490;19746409;19812171;19851340;20062082;20215397;20520848;20571754;20634891;20647002;20712903;20724581;20816195;20935630;20970160;21102462;21282464;21520040;21572435;21689625;21693764;21832049;21988832;22266854;22425584;22589409;22771031;22968857;23563607;23752268;24250222;25117710;7559555;8152800;8661127;8798622;8941378 2119 C9J0Z2;C9J5A5;C9JMF0;C9JR66;H7C1D2;P41161 ABBA01058396;ABBA01058397;AC108671;AC112649;AC131156;AK301878;AMYH02008337;AMYH02008338;BC007333;BT006713;CH471052;CR456767;NM_004454;X76184;X96375;X96381 AAH07333;AAP35359;ABM81600;ABM84781;BAH13573;CAA53778;CAA65246;CAG33048;EAW78200;NP_004445;P41161 Hs.43697 1650718;1694810;1735222;1856641;2123235;2173535;5037662 D3S2851E;D3S2889E;D3S4339;G43635;RH65420;SHGC-12013;STS-X76184 ERM ETS translocation variant 5;OTTHUMP00000210259;OTTHUMP00000210260;ets-related molecule;ets-related protein ERM protein-coding ENSG00000244405 HGNC:3494 09035 601600 VALIDATED 1350227 ETNPPL ethanolamine-phosphate phospho-lyase ENCODES a protein that exhibits ethanolamine-phosphate phospho-lyase activity (inferred); pyridoxal phosphate binding (inferred); transaminase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 4 4 4 q25 106958027 106978961 - 109663196 109684235 - 108742040 108763079 - 632008;6480464 7592550 12477932;14702039;20332099;21139048;21832049;22241472;23761375 64850 D6R9Y3;D6RE94;D6RFL9;D6RGG2;E7ENR6;Q8TBG4 ABBA01063767;ABBA01063768;AC097473;AJ298293;AK091888;AK294072;AK294235;AMYH02009886;BC022526;CH471057;DC311077;DC327590;NM_001146590;NM_001146627;NM_031279;NR_027474;NR_027475;XM_006714290 AAH22526;AAY40946;BAC03766;BAH11666;BAH11710;CAC22253;EAX06235;EAX06236;EAX06237;NP_001140062;NP_001140099;NP_112569;Q8TBG4;XP_006714353 Hs.106576 1656918 SHGC-59831 AGXT2L1 OTTHUMP00000219616;OTTHUMP00000219617;OTTHUMP00000219618;OTTHUMP00000219619;alanine--glyoxylate aminotransferase 2-like 1;alanine-glyoxylate aminotransferase 2-like 1 APPROVED protein-coding ENSG00000164089 HGNC:14404 10639 614682 VALIDATED 1602695 EVA1B eva-1 homolog B (C. elegans) FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 1 1 1 p34.3 35062757 35064880 - 36787631 36790567 - 36322030 36324965 - 6480464 12477932;14702039;15489334;16710414 55194 Q9NVM1 ABBA01023300;ABBA01023301;ABBA01023302;AK001509;AL591845;AMYH02000783;AX876893;BC006241;BC071697;CH471059;GN344031;NM_018166;XM_005270998 AAH06241;AAH71697;BAA91729;CAE89479;CAY55951;EAX07377;EAX07378;NP_060636;Q9NVM1;XP_005271055 Hs.87016 1665865;1856839 SHGC-58104;SHGC-74603 C1orf78;FAM176B;FLJ10647;RP11-268J15.2 OTTHUMP00000009598;family with sequence similarity 176, member B;hypothetical protein LOC55194;protein eva-1 homolog B APPROVED protein-coding ENSG00000142694 HGNC:25558 07690 PROVISIONAL 1315190 ETV4 ets variant 4 ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding; INVOLVED IN branching involved in mammary gland duct morphogenesis (inferred); motor neuron axon guidance (inferred); negative regulation of mammary gland epithelial cell proliferation (inferred); FOUND IN nucleolus; INTERACTS WITH 17beta-estradiol; aflatoxin B1; arsenous acid 17 17 17 q21 38314866 38333417 - 41605211 41623800 - 43527843 43546432 - 1580863;6480464 10564827;10949935;12477932;12684413;12779089;14625302;14718574;14976201;15342556;15387369;15461591;1547944;15489334;15611127;15629152;15695237;15756447;15800927;16158187;16297865;16585160;16652376;16678123;16738319;16752078;16786139;16912160;17060941;17467662;17475671;17585876;17938207;18029348;18425363;18451133;18474293;18510939;18511876;18593949;18644862;18687701;18794152;19129951;19307308;19483189;19845529;20062082;20211142;20980337;21087211;21143918;21150337;21266854;21572435;21613609;21673681;21679465;21689625;21736557;21831961;21832049;22425584;22505724;22922762;23275563;23989931;24072701;25117710;7774926;7796532;7987831;8441666;8530053;8605035 2118 B7Z5F4;K7EMW0;P43268 ABBA01028407;ABBA01028408;AC068675;AF095886;AF095887;AF095888;AF095889;AF095890;AK290429;AK298872;AK299019;AK312934;AK315961;AMYH02033461;BC007242;BC016623;BF304101;BM013535;BP268896;BU166857;CH471178;CX783903;D12765;DB493072;DC375462;DQ396625;DQ396626;DR156106;EU693078;EU693079;NM_001079675;NM_001261437;NM_001261438;NM_001261439;NM_001986;U18018 AAA95991;AAD09186;AAH16623;ABM82991;ABM86185;BAA02234;BAF83118;BAH12890;BAH12929;BAH14332;EAW51673;EAW51674;EAW51675;NP_001073143;NP_001248366;NP_001248367;NP_001248368;NP_001977;P43268 Hs.434059 1685564;1733812;2107063;2159456 D17S1329;ETV4_3365.2;RH76788;STS-H27202 E1A-F;E1AF;PEA3;PEAS3 E1A enhancer binding protein;ETS translocation variant 4;EWS protein/E1A enhancer binding protein chimera;adenovirus E1A enhancer-binding protein;ets variant gene 4 (E1A enhancer binding protein, E1AF);ets variant gene 4 (E1A enhancer-binding protein, E1AF);polyomavirus enhancer activator 3 homolog;polyomavirus enhancer activator-3 protein-coding ENSG00000175832 HGNC:3493 02833 600711 VALIDATED 1604577 EVA1A eva-1 homolog A (C. elegans) INVOLVED IN apoptotic process (inferred); autophagy (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular membrane-bounded organelle; plasma membrane; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 2 2 2 p12 75550740 75628141 - 75719444 75796848 - 75492318 75569722 - 6480464;8554872 12477932;14702039;15342556;15489334;15498874;15815621;16169070;17492404;18029348;20379614;21139048;22495369;23000965;23098460;23251661;23509613 84141 B8ZZF5;C9J5M4;C9JX09;Q9H8M9 ABBA01075623;ABBA01075624;AC007099;AF177337;AK023453;AMYH02004096;AW016395;AX882890;BC016157;BC063016;BE892427;BP276065;CH471053;CR457314;NM_001135032;NM_032181 AAG17981;AAH16157;AAH63016;AAY14774;BAB14580;CAE91766;CAG33595;EAW99591;EAW99592;EAW99593;EAW99594;NP_001128504;NP_115557;Q9H8M9 Hs.302346 1670337;1707572;1848752;2116286;2136589 RH1524;RH48425;RH69495;SHGC-84597;WI-15805 FAM176A;FLJ13391;TMEM166 OTTHUMP00000160452;OTTHUMP00000202774;OTTHUMP00000202775;OTTHUMP00000202776;OTTHUMP00000202777;family with sequence similarity 176, member A;protein eva-1 homolog A;transmembrane protein 166 APPROVED protein-coding ENSG00000115363 HGNC:25816 07827 VALIDATED 737031 ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1 This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] 11 11 11 q23.3 125494962 125623626 - 128328656 128457453 - 128458761 128587558 - 1580863;2303822;2313849;2313847;2313850;2313901;6480464;6484113;6907045;8663430;8554872 1686010;17622743;17708355;19225563;1982251;22713868 10022910;10207087;10212281;10358095;10377039;10698492;10815800;10918595;10942770;11279115;11313879;11590145;11830328;11836635;11909962;11948414;11971908;12034715;12048211;12073053;12221090;12377648;12377649;12464608;12466970;12475968;12477932;12632071;12632078;12743594;12843180;12850290;12920221;12932931;12949792;12967474;14557674;14586398;14702039;14704859;14734780;15001984;15123671;15173033;15199062;1522903;15247905;15302318;15342556;15389378;15469934;15531915;15563472;15572696;15574387;15578430;15592455;15592518;15693893;15699632;15788656;15848191;1592264;15940256;15996661;16045329;1614856;16192649;16234432;16263717;16278291;16294212;16455618;16569638;16586544;16684505;16722933;16786167;16829517;16861237;16862185;16887814;16894529;17105191;17213822;17283532;17287278;17321669;17376198;17397260;17456046;17656364;17661355;17671502;17721441;17785952;17845581;17977828;17986575;18020712;18172009;18292499;18374905;18381358;18537194;18538735;18566588;18625704;18676374;18692240;18720385;18851945;18851979;18948081;18955504;19022222;19091791;19116245;19154409;19205872;19322201;19336585;19377509;19427971;19465391;19471022;19499154;19616560;19657377;19787252;19836356;19838193;19935876;19942620;20001963;20019798;20021863;20097731;20169177;20190752;20195357;20367922;20378371;20392592;20398657;20435626;20479932;20516000;20645833;20671229;20819682;20842667;20938207;21081489;21139048;21377967;21423203;21424114;21439064;21444677;21445343;21515670;21623185;21693764;21711453;21732343;21737519;21741415;21832049;21841808;2187191;21906983;21919915;21925842;21940109;21988832;22073215;22087647;22096509;22206665;22232738;22270366;22294049;22307076;22322590;22355253;22366814;22390030;22396784;22446963;22494801;22505724;22516263;22521293;22539964;22615925;22742857;22829018;22914732;22936014;23060436;23064684;23094960;23101665;23117818;23236436;23251661;23268366;23273568;23383271;23405229;23474984;23552426;23589550;23737550;23762867;23817569;23874775;23924923;23926020;23926301;23948889;24019486;24064218;24203999;24211252;24238102;24390342;24576667;24645837;24726443;24816145;25117710;2612216;2847145;2997781;3060801;3285299;7753825;7774816;8231246;8521493;8557686;8620536;9032233;9094628;9266972;9333025;9334186;9501572;9528793;9566892;9681824;9794229 2113 A8K725;B4DW78;P14921;V9GYD6 ABBA01023010;AK001630;AK291840;AK301405;AL832693;AMYH02025764;AP001995;AP003397;AY943926;BC017314;BG035366;BM468663;BP365215;BT019452;BT019453;BX640634;CA407336;CH471065;CR542254;J04101;M11921;NG_029555;NM_001143820;NM_001162422;NM_005238;S67063;X14798;XM_005271428 AAA52409;AAA52410;AAB28747;AAH17314;AAV38259;AAV38260;AAY19514;BAF84529;BAG62940;CAA32903;CAA32904;CAE45783;CAG47050;EAW67709;EAW67710;EAW67711;EAW67712;NP_001137292;NP_001155894;NP_005229;P14921;XP_005271485 Hs.369438 1644722;1688203;1797106;1797512;1856621;2173435;2175456;5494142 D11S4369;ETS1;ETS1_2320;RH138700;RH79103;RH80963;WI-18124;WS29 ETS-1;EWSR2;FLJ10768;p54 Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1;OTTHUMP00000231009;OTTHUMP00000231010;OTTHUMP00000231011;OTTHUMP00000231012;ets protein;protein C-ets-1;v-ets avian erythroblastosis virus E2 oncogene homolog 1 APPROVED protein-coding ENSG00000134954 HGNC:3488 01260 164720 REVIEWED 1342513 EVC Ellis van Creveld syndrome This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008] 4 4 4 p16 5610660 5713978 + 5712924 5816031 + 5711189 5829005 + 1302823;1580863;6480464;7240710;8554872;8699517 10700184 10802674;12477932;12571802;15368503;15492864;17024374;18454448;18947413;19115052;19251731;19744229;19810119;19913121;20087401;20301743;20379614;20628086;20634891;21199751;22219177;24250222;8661097;8889548 2121 E9PCN4;P57679 ABBA01008263;ABBA01008264;AC105915;AC116613;AF216184;AF216185;AF239742;AK025394;AMYH02008655;AMYH02008656;AMYH02008657;BC085608;BM670090;NG_008843;NM_153717;XM_005247952;XM_006713865;XM_006713866;XM_006713867;XR_427471;XR_427472;XR_427473;XR_427474;XR_427475;XR_427476;XR_427477 AAF37216;AAF37217;AAF44682;AAH85608;AAY40958;AAY41049;NP_714928;P57679;XP_005248009;XP_006713928;XP_006713929;XP_006713930 Hs.646899;Hs.649902 1650472;1674292;1684443;1753351;1773747;2117924;2124428;2138153;2153331;5021898;7186313 D4S431;D4S562;D4S843;G33862;G34166;SHGC-107187;SHGC-25092;SHGC-32439;SHGC-57712;SHGC-8564;ha2448 DWF-1;EVC1;EVCL;MGC105107 OTTHUMP00000115495;ellis-van Creveld syndrome protein APPROVED protein-coding ENSG00000072840 HGNC:3497 05319 193530;225500;604831 REVIEWED 1323762 ETV1 ets variant 1 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Erwing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 7 7 7 p21.3 13909988 14010173 - 13930854 14031050 - 13891229 13991425 - 1580863;6480464;8699517;8554872 10597226;11551945;12213813;12477932;12569367;12690205;12750007;12853948;12917345;12947087;1340465;14702039;14747462;15146197;15489334;15561718;16055714;16344560;17032499;17390040;17505060;17632455;17634427;17671502;18474293;18594527;18628953;18726892;19223501;19465903;19718948;19789348;20062082;20104229;20160028;20927104;21036922;21298110;21559405;21572435;21622576;21673681;21689625;21988832;22351694;22425584;22901226;23076342;23284306;23512661;23522042;23774214;23817021;24100634;25117710;7651741;7700648;8619474;8889548;9110174;9681824 2115 B5MCT2;B7Z2C9;C9J0B7;C9J4P4;C9J9L1;C9JQH6;C9JX69;F8WEH6;P50549 AB209202;ABBA01056596;AC004857;AC004909;AF070641;AF109632;AK055368;AK293802;AK294572;AK294755;AK299693;AK309190;AK311089;AK311134;AK311194;AK311707;AK312863;AK316007;AMYH02015265;AMYH02015266;BC042950;BC045776;BC098403;BC106762;BC106763;BF346325;BU737178;CH236948;CH471073;CN396908;CN396911;CR627389;DA114165;DB093597;DB099964;DC308837;EF632110;NG_029795;NM_001163147;NM_001163148;NM_001163149;NM_001163150;NM_001163151;NM_001163152;NM_004956;NR_120445;U17163;X87175;XM_005249635;XM_005249636 AAA79844;AAC62435;AAD29877;AAD29878;AAH98403;AAI06763;AAI06764;ABZ92002;BAD92439;BAG35715;BAH11600;BAH11815;BAH11870;BAH13104;BAH14378;CAA60642;CAH10484;EAL24294;EAW93654;EAW93655;EAW93656;EAW93657;EAW93658;EAW93659;EAW93660;EAW93661;EAW93662;NP_001156619;NP_001156620;NP_001156621;NP_001156622;NP_001156623;NP_001156624;NP_004947;P50549;XP_005249692;XP_005249693 Hs.22634 1655251;1656387;1690980;1701104;1725131;1746985;1847569;1849893;2147907;2181733;2189479;5092974 A009D20;D7S1992;D7S2766;D7S2837;Etv1;G32445;GDB:1318567;MARC_7327-7328:992008337:1;RH104180;RH118869;RH26805;SHGC-55970 DKFZp781L0674;ER81;MGC104699;MGC120533;MGC120534 ETS translocation variant 1;OTTHUMP00000201615;OTTHUMP00000201616;OTTHUMP00000201617;OTTHUMP00000201618;OTTHUMP00000201619;OTTHUMP00000201620;OTTHUMP00000201621;OTTHUMP00000201622;ets variant gene 1;ets-related protein 81 APPROVED protein-coding ENSG00000006468 HGNC:3490 02765 600541 REVIEWED 1353246 ETV7 ets variant 7 The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011] 6 6 6 p21 37888649 37910150 - 36321998 36355577 - 36354221 36387800 - 1580863;6480464;8554872 10828014;11032031;11108721;12477932;12588862;14574404;14702039;15489334;15743832;18029348;20211142;20379614;21890473;21988832;8125298 51513 Q9Y603 ABBA01038257;AF116508;AF116509;AF116510;AF147782;AF175387;AF218235;AF218365;AF218366;AJ276205;AK026144;AK122796;AK223424;AK301011;AK303829;AMYH02013554;BC035853;CH471081;JB157966;NG_029211;NM_001207035;NM_001207036;NM_001207037;NM_001207038;NM_001207039;NM_001207040;NM_001207041;NM_016135;Z84484 AAD33989;AAD43250;AAD43251;AAD43252;AAF25007;AAF28350;AAF44742;AAF44743;AAH35853;ABZ92372;BAD97144;BAG53734;BAG62628;BAG64776;CAC17012;CCW44093;EAX03885;EAX03886;EAX03887;EAX03888;EAX03889;EAX03890;NP_001193964;NP_001193965;NP_001193966;NP_001193967;NP_001193968;NP_001193969;NP_001193970;NP_057219;Q9Y603 Hs.272398 TEL-2;TEL2;TELB ETS translocation variant 7;ETS-related protein Tel2;Ets transcription factor TEL-2b;OTTHUMP00000016290;OTTHUMP00000016291;TEL2 oncogene;ets variant gene 7 (TEL2 oncogene);tel-related Ets factor;transcription factor ETV7;transcription factor Tel-2;transcription factor ets APPROVED protein-coding ENSG00000010030 HGNC:18160 16095 605255 REVIEWED 1347396 EVI2B ecotropic viral integration site 2B FOUND IN integral component of plasma membrane (inferred); INTERACTS WITH acetylsalicylic acid; all-trans-retinoic acid; calcitriol 17 17 17 q11.2 26551516 26561851 - 29629888 29641130 - 31302870 31314112 - 1580863;6480464 12477932;16344560;1639383;1719426;17632510;18029348;1899288;1903357;2114220;2117566;22082156 2124 P34910;Q9BRW1 AA251185;ABBA01014963;AC134669;AK297087;AK312822;AMYH02033293;AW576194;BC005926;CH471147;DA677356;L05367;M60829;M60830;NG_009018;NM_006495;XM_005257946 AAA35816;AAH05926;ABM84046;ABM87395;BAG35679;BAH12493;EAW80277;EAW80278;NP_006486;P34910;XP_005258003 Hs.5509 1651711;1653633;1663175;1855580 D17S2051;RH17711;RH68548;SHGC-34851 CD361;D17S376;EVDB;EVI-2B OTTHUMP00000163769;ecotropic viral integration site 2B protein homolog protein-coding ENSG00000185862 HGNC:3500 08867 158381 VALIDATED 1316841 EVA1C eva-1 homolog C (C. elegans) ENCODES a protein that exhibits carbohydrate binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; cobalt dichloride 21 21 21 q22.11 18968379 19071327 + 33784034 33887702 + 32411723 32515400 + 6480464;8554872 11707072;12477932;12975309;15489334;17672918;18851979;19470522;20379614;21906983 59271 B3KWG0;B5MC74;C9JS02;F8WEK6;P58658 ABBA01057313;ABBA01057314;ABBA01057315;ABBA01057316;AF358258;AI290677;AK125013;AK126660;AL543462;AMYH02037723;AMYH02037724;AP000269;AP000270;AP000271;AP000272;AY040087;AY358787;BC038710;BU175692;BX373211;CH471079;KF457215;KF510537;KF511475;NM_001286556;NM_058187;NR_104472;XM_005261019;XM_005261020;XM_005261021;XM_006724038;XR_244287 AAH38710;AAK74135;AAL40411;AAQ89147;BAC86633;BAG54122;EAX09870;EAX09871;EAX09872;EAX09873;NP_001273485;NP_478067;P58658;XP_005261076;XP_005261077;XP_005261078;XP_006724101 Hs.208358 1339185;1340946;1644822;1660192;1662590;1665297;1687992;1717715;1776753;1798358;1798622;1798790;1800150;1800646;1802786;1804234;1805008;1805850;1805932;1807016;1807018;1808372;1809304;1810106;1810758;1812794;1814984;1815320;1816534;1818792;1820116;1820658;1821042;1821128;1821848;1822880;1823116;1824786;1825042;1825118;1825256;1825258;1825736;1825980;1827132;1827718;1828362;1829206;1830188;1830654;1830982;1831160;1831734;1833862;1834048;1834486;1834548;1835684;1836090;1836690;1838314;1838738;1839150;1839252;1839588;1841320;1841684;1841806;1842506;1842974;1843202;1843348;1843636;1843900;1844026;1844088;1844518;1845492;1845572;1845742;2019864;2019866;2019868;2019870;2019872;2019874;2019876;2019878;2019880;2019882;2019884;2019886;2019888;2019890;2019892;2019894;2019896;2019898;2019900;2019902;2019904;2019906;2019908;2019910;2019912;2019914;2019916;2019918;2019920;2019922;2019924;2019926;2019928;2019930;2019932;2019934;2019936;2019938;2019940;2019942;2019944;2019946;2019948;2019950;2019952;2019954;2019956;2019958;2019960;2019962;2019964;2019966;2019968;2019970;2019972;2019974;2019976;2019978;2019980;2019982;2019984;2019986;2019988;2019990;2019992;2019994;2019996;2019998;2020000;2020002;2020004;2020006;2020008;2020010;2020012;2020014;2020016;2020018;2020020;2020022;2020026;2020028;2020030;2020032;2020034;2020036;2020038;2020040;2020042;2020044;2020046;2020048;2020050;2020052;2020054;2020056;2020058;2020060;2020062;2020066;2020068;2020070;2020072;2020074;2020076;2020078;2020080;2020082;2020084;2020086;2020088;2020090;2020092;2020094;2020096;2020098;2020100;2020102;2020104;2020106;2020108;2020110;2020112;2020114;2020116;2020118;2020120;2020122;2020124;2020126;2020128;2020130;2020132;2020134;2020136;2020138;2020140;2020142;2020144;2020146;2020148;2020150;2020152;2020154;2020156;2020158;2020160;2020162;2020164;2020166;2020168;2020170;2020172;2020174;2020176;2020178;2020180;2020182;2020184;2020186;2020188;2020190;2020192;2020194;2020196;2020198;2020200;2020202;2020204;2020206;2020208;2020210;2020212;2020214;2020216;2020218;2020220;2020222;2020224;2020226;2020228;2020230;2020232;2020234;2020236;2020238;2020240;2020242;2020244;2020246;2020248;2020250;2020252;2020254;2020256;2020258;2020260;2020262;2020264;2020266;2020268;2020270;2020272;2020274;2020276;2020278;2020280;2020282;2020284;2020286;2020288;2020290;2020292;2020294;2020296;2020298;2020300;2020302;2020304;2020306;2020308;2020310;2020312;2020314;2020316;2020318;2020320;2020322;2020324;2020326;2020328;2020330;2020332;2020334;2020336;2020338;2020340;2020342;2020344;2020346;2020348;2020350;2020352;2020354;2020356;2020358;2020360;2020362;2020364;2020366;2020368;2020370;2020372;2020374;2020376;2020378;2020380;2020382;2020384;2020386;2020388;2020390;2020392;2020394;2020396;2020398;2020400;2020402;2020404;2020406;2020408;2020410;2020412;2020414;2020416;2020418;2020420;2020422;2020424;2020426;2020428;2020430;2020432;2020434;2020436;2020438;2020440;2020442;2020444;2020446;2020448;2020450;2020452;2020454;2020456;2020458;2020460;2020462;2020464;2020466;2020468;2020470;2020472;2020474;2020476;2020478;2020480;2020482;2020484;2020486;2020488;2020490;2020492;2020494;2020496;2020498;2020500;2020502;2020504;2020506;2020508;2020510;2020512;2020514;2020516;2020518;2020520;2020522;2020524;2020526;2020528;2020530;2020532;2020534;2020536;2020538;2020540;2020542;2020544;2020546;2020548;2020550;2020552;2020554;2020556;2020558;2020560;2020562;2020564;2020566;2020568;2020570;2020572;2020574;2020576;2020578;2020580;2020582;2020584;2020586;2020588;2020590;2020592;2020594;2020596;2020598;2020600;2020602;2020604;2020606;2020608;2020610;2020612;2020614;2020616;2020618;2020620;2020622;2020624;2020626;2020628;2020630;2020632;2020634;2020636;2020638;2020640;2020642;2020644;2020646;2020648;2020650;2020652;2020654;2020656;2020658;2020660;2020662;2020664;2020666;2020668;2020670;2020672;2020674;2020676;2020678;2099800;2099802;2099804;2099806;2099808;2099810;2099812;2099814;2099816;2099818;2099820;2099822;2099826;2099828;2099830;2099832;2099834;2099836;2099838;2099840;2099842;2099844;2099846;2099848;2099850;2099852;2099854;2099856;2099858;2099860;2099862;2099864;2099866;2099868;2099870;2099872;2099874;2099876;2099878;2099880;2099882;2099884;2099886;2099888;2099890;2099892;2099894;2099896;2099900;2099902;2099904;2099906;2099908;2099910;2099912;2099914;2099916;2099918;2099920;2115036;2148467;2158425;2166497;2166499;2181352;5112934;5112936 D21S1413;D21S1819;D21S1844;D21S1967;D21S224;D21S262;ECD00014;ECD00150;ECD00235;ECD00931;ECD01184;ECD02280;ECD03040;ECD03444;ECD03876;ECD03919;ECD04473;ECD04474;ECD05167;ECD05642;ECD06045;ECD06374;ECD07408;ECD08523;ECD08696;ECD09309;ECD10460;ECD11131;ECD11404;ECD11597;ECD11641;ECD12010;ECD12528;ECD12646;ECD13491;ECD13620;ECD13660;ECD13729;ECD13730;ECD13976;ECD14099;ECD14681;ECD14980;ECD15306;ECD15730;ECD16227;ECD16463;ECD16627;ECD16716;ECD17004;ECD18077;ECD18172;ECD18391;ECD18422;ECD18999;ECD19206;ECD19509;ECD20331;ECD20547;ECD20754;ECD20806;ECD20977;ECD21856;ECD22039;ECD22102;ECD22460;ECD22695;ECD22809;ECD22882;ECD23028;ECD23161;ECD23226;ECD23257;ECD23473;ECD23964;ECD24004;ECD24090;G34718;REN80880;REN80881;REN80882;REN80883;REN80884;REN80885;REN80886;REN80887;REN80888;REN80889;REN80890;REN80891;REN80892;REN80893;REN80894;REN80895;REN80896;REN80897;REN80898;REN80899;REN80900;REN80901;REN80902;REN80903;REN80904;REN80905;REN80906;REN80907;REN80908;REN80909;REN80910;REN80911;REN80912;REN80913;REN80914;REN80915;REN80916;REN80917;REN80918;REN80919;REN80920;REN80921;REN80922;REN80923;REN80924;REN80925;REN80926;REN80927;REN80928;REN80929;REN80930;REN80931;REN80932;REN80933;REN80934;REN80935;REN80936;REN80937;REN80938;REN80939;REN80940;REN80941;REN80942;REN80943;REN80944;REN80945;REN80946;REN80947;REN80948;REN80949;REN80950;REN80951;REN80952;REN80953;REN80954;REN80955;REN80956;REN80962;REN80963;REN80967;REN80969;REN80970;REN80971;REN80972;REN80973;REN80974;REN80975;REN80976;REN80977;REN80978;REN80979;REN80980;REN80981;REN80982;REN80983;REN80984;REN80985;REN80986;REN80987;REN80989;REN80992;REN80994;REN80995;REN80996;REN80997;REN80998;REN80999;REN81000;REN81003;REN81004;REN81005;REN81006;REN81007;REN81008;REN81009;REN81010;REN81011;REN81012;REN81013;REN81014;REN81015;REN81016;REN81017;REN81018;REN81019;REN81020;REN81021;REN81022;REN81023;REN81024;REN81025;REN81026;REN81027;REN81028;REN81029;REN81030;REN81031;REN81032;REN81033;REN81034;REN81035;REN81036;REN81037;REN81038;REN81039;REN81040;REN81042;REN81043;REN81045;REN81046;REN81047;REN81048;REN81049;REN81050;REN81051;REN81053;REN81054;REN81055;REN81057;REN81058;REN81059;REN81060;REN81061;REN81062;REN81065;REN81066;REN81067;REN81068;REN81069;REN81070;REN81071;REN81072;REN81073;REN81074;REN81075;REN81076;REN81077;REN81078;REN81079;REN81080;REN81081;REN81082;REN81083;REN81084;REN81085;REN81086;REN81087;REN81088;REN81089;REN81090;REN81091;REN81092;REN81093;REN81094;REN81095;REN81096;REN81097;REN81098;REN81099;REN81100;REN81101;REN81102;REN81103;REN81104;REN81105;REN81106;REN81107;REN81108;REN81109;REN81110;REN81111;REN81112;REN81113;REN81114;REN81115;REN81116;REN81117;REN81118;REN81119;REN81120;REN81121;REN81122;REN81123;REN81124;REN81125;REN81126;REN81127;REN81128;REN81129;REN81130;REN81131;REN81132;REN81133;REN81134;REN81135;REN81136;REN81137;REN81138;REN81139;REN81140;REN81141;REN81142;REN81143;REN81144;REN81145;REN81146;REN81147;REN81148;REN81149;REN81150;REN81151;REN81152;REN81153;REN81154;REN81155;REN81156;REN81157;REN81158;REN81159;REN81160;REN81161;REN81162;REN81163;REN81164;REN81165;REN81166;REN81167;REN81168;REN81169;REN81170;REN81171;REN81172;REN81173;REN81174;REN81175;REN81176;REN81177;REN81178;REN81179;REN81180;REN81181;REN81182;REN81183;REN81184;REN81185;REN81186;REN81187;REN81188;REN81189;REN81190;REN81191;REN81192;REN81193;REN81194;REN81195;REN81196;REN81197;REN81198;REN81199;REN81200;REN81201;REN81202;REN81203;REN81204;REN81205;REN81206;REN81207;REN81208;REN81209;REN81210;REN81211;REN81212;REN81213;REN81214;REN81215;REN81216;REN81217;REN81218;REN81219;REN81220;REN81221;REN81222;REN81223;REN81224;REN81225;REN81226;REN81227;REN81228;REN81229;REN81230;REN81231;REN81232;REN81233;REN81234;REN81235;REN81236;REN81237;REN81238;REN81239;REN81240;REN81241;REN81242;REN81243;REN81244;REN81245;REN81246;REN81247;REN81248;REN81249;REN81250;REN81255;REN81256;REN81257;REN81258;REN81260;REN81261;REN81262;REN81263;REN81264;REN81265;REN81266;REN81267;REN81268;REN81269;REN81270;REN81271;REN81272;REN81273;REN81274;REN81275;REN81276;REN81277;REN81278;REN81281;REN81282;REN81286;REN81287;REN81288;REN81290;REN81291;REN81293;REN81294;REN81295;REN81296;REN81297;REN81298;REN81299;REN81300;REN81301;REN81302;REN81303;REN81304;REN81305;REN81306;REN81307;REN81308;REN81309;REN81310;REN81311;REN81312;REN81313;REN81314;REN81315;REN81316;REN81317;REN81318;REN81319;REN81320;RH121764;RH36093;RH93104;SHGC-37672;SHGC-51923;SHGC-52066;SHGC-87586;SHGC-87594;stSG606377;stSG606378;stSG606379;stSG606380;stSG606381;stSG606382;stSG606383;stSG606384;stSG606385;stSG606386;stSG606387;stSG606388;stSG606398;stSG606399;stSG606402;stSG606403;stSG606404;stSG606405;stSG606406;stSG606407;stSG606408;stSG606410;stSG606411;stSG606412;stSG606413;stSG606414;stSG606415;stSG606416;stSG606417;stSG606418;stSG606419;stSG606420;stSG606421;stSG606422;stSG606423;stSG606424;stSG606426;stSG606427;stSG606428;stSG606431;stSG606432;stSG606433;stSG606434;stSG606435;stSG606436;stSG606437;stSG606442;stSG606443;stSG606445;stSG606446;stSG606449;stSG606451;stSG606452;stSG606454;stSG606455;stSG606456;stSG606457;stSG606458;stSG606459 B18;B19;C21orf63;C21orf64;EVA-1;EVA1;FAM176C;PRED34;SUE21 OTTHUMP00000067387;OTTHUMP00000067388;OTTHUMP00000197732;eva-1 homolog;family with sequence similarity 176, member C;hypothetical protein LOC59271;protein eva-1 homolog C;uncharacterized protein C21orf63 APPROVED protein-coding ENSG00000166979 HGNC:13239 10760 VALIDATED 1321308 EVC2 Ellis van Creveld syndrome 2 This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 p16.2-p16.1 5461794 5609016 - 5544531 5711275 - 5562419 5709548 - 1302823;1600212;6480464;7240710;8554872;8699517 10700184;12571802 11076863;12136126;12468274;12477932;15231748;16404586;17024374;17547743;18454448;19251731;19759913;19810119;20087401;20184732;20301743;21199751;21533779;21815252;23026208;23169490;23220543 132884 E9PFT2;Q86UK5 AB083067;ABBA01008259;ABBA01008260;ABBA01008261;ABBA01008262;ABBA01008263;AC114738;AC116613;AMYH02008654;AMYH02008655;AW137166;AY152402;AY152403;AY185210;BC143836;BG755658;CH471131;NG_015821;NM_001166136;NM_147127;XM_006713859;XM_006713860 AAI11456;AAN86577;AAN86578;AAO22066;AAY41034;AAY41048;BAC06590;EAW82412;EAW82413;EAW82414;NP_001159608;NP_667338;Q86UK5;XP_006713922;XP_006713923 Hs.87306 1661801;2107065;2147653;2174765 D4S2354;EVC2__7605;G16701;G33508 LBN OTTHUMP00000155147;OTTHUMP00000155148;OTTHUMP00000184918;ellis-van Creveld syndrome protein 2;limbin APPROVED protein-coding ENSG00000173040 HGNC:19747 06269 225500;607261 REVIEWED 1350066 EVI2A ecotropic viral integration site 2A ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-anisomycin; 1-nitropyrene; 17beta-estradiol 17 17 17 q11.2 26564149 26569490 - 29643428 29648767 - 31316410 31321749 - 1580863;6480464;8554872 12477932;15489334;16344560;1639383;1719426;17632510;18976975;1899288;1903357;2114220;2117565;2117566;2134734;21832049;21988832;24816145;8889548 2123 P22794 ABBA01014963;AC004526;AC134669;AC135724;AK295311;AK312348;AMYH02033293;AV724051;AY796305;BC035572;BG699778;BG700097;BI597493;CF135330;CH471147;DA364537;L05367;M55267;NG_009018;NM_001003927;NM_014210 AAA52413;AAH35572;ABM81735;ABM84890;BAG35269;BAG58290;EAW80276;NP_001003927;NP_055025;P22794 Hs.591198 1341251;1681101;1688644;1741257;1742767;2111938;2141429;2218770 D17S1166;D17S2163;EVI2A_3977;GDB:179892;GDB:204171;RH76220;RH98908;STS-N38894 EVDA;EVI-2A;EVI2 OTTHUMP00000214770;OTTHUMP00000214771;OTTHUMP00000214772;ecotropic viral integration site 2A protein homolog protein-coding HGNC:3499 08866 158380 VALIDATED 1314586 EVPL envoplakin ENCODES a protein that exhibits protein binding, bridging; structural molecule activity; INVOLVED IN keratinocyte differentiation; peptide cross-linking; ASSOCIATED WITH Melanoma (inferred); FOUND IN cornified envelope; extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid; bisphenol A 17 17 17 q25 70592970 70613552 - 74002926 74023533 - 76006846 76027426 - 1580863;6480464;8554872 10409435;10747979;10908733;11062259;12366696;12432088;12477932;15033990;15342556;15756445;17370265;18820940;19056867;20936779;21906983;22360420;22939629;8707850;8938451;8999895;9115270;9412476;9651377 2125 K7EKI0;K7EQ87;Q92817 ABBA01028762;AC040980;AK290333;AMYH02034003;BC126103;BC126105;BC143813;BC143814;BP353801;CH471099;NM_001988;U53786;U72849 AAC64662;AAD00186;AAI26104;AAI26106;AAI43815;BAF83022;EAW89356;EAW89357;NP_001979;Q92817 Hs.500635 5014055 D1S3697 EVPK;p210 210 kDa cornified envelope precursor protein;210 kDa paraneoplastic pemphigus antigen protein-coding ENSG00000167880 HGNC:3503 03352 601590 VALIDATED 2303435 EVPLL envoplakin-like ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (S)-nicotine; 17beta-estradiol; 2,6-di-tert-butyl-4-methylphenol (ortholog) 17 17 17 p11.2 19232559 19238172 + 18281079 18292961 + 18377765 18389647 + 6480464;8554872 12477932 645027 A8MZ36 ABBA01009729;ABBA01009730;AK298286;AL353997;AMYH02033115;BC026998;BC036791;NM_001145127 A8MZ36;BAG60546;NP_001138599 Hs.462400 1644075 G33172 OTTHUMP00000065144;envoplakin-like protein protein-coding ENSG00000214860 HGNC:35236 VALIDATED 1345834 EVR1 exudative vitreoretinopathy 1 (autosomal dominant; Criswick-Schepens syndrome) ASSOCIATED WITH Exudative vitreoretinopathy 1 (inferred) 7240710 1598965 2126 HGNC:3504 133780 1348376 EVR2 exudative vitreoretinopathy 2 (X-linked) ASSOCIATED WITH EXUDATIVE VITREORETINOPATHY 2, X-LINKED (inferred); Norrie disease (inferred) 7240710 7558002 2127 HGNC:3505 305390;310600 1345405 ETV6 ets variant 6 This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008] 12 12 12 p13 16945067 17191403 + 11802788 12048336 + 11649854 11895402 + 1581019;1580863;6480464;7240710;8699517;8554872 12203785 10377438;10477709;10502316;10514502;10702799;11001911;11078523;11314018;11439334;11483520;11731410;11861293;11861295;12080468;12091359;12127395;12210491;12393285;12435397;12450792;12477932;12505259;12526921;12527908;12588862;12590135;12626745;12737628;12893822;14668342;14726384;15054045;15104290;15142881;15143164;15179033;15229229;15328172;15489334;15704129;15729383;15761153;15806161;15887243;15958056;15970674;16055720;16081688;16105979;16278392;16307024;16341674;16386788;16572202;16673018;16737910;16898416;16914570;17015828;17077140;17095626;17285576;17344859;17366548;17503961;17579016;17673463;17690704;17854676;17889709;17956600;17972957;17980166;18029348;18172310;18202291;18212042;18281529;18305557;18391951;18426905;18445843;18462252;18462362;18476590;18617057;18635414;18767146;18928518;18940475;19011601;19024110;19100516;19129484;19144660;19179469;19322201;19345670;19427022;19471022;19475667;19665068;19710703;19850743;19896186;19913121;19956635;20164181;20190817;20197715;20379614;20400516;20412772;20589932;20628086;20658612;20713965;20798944;20804916;20807887;20835243;20844136;20881960;21029724;21156245;21157892;21212293;21212294;21224468;21401966;21457573;21532337;21569007;21576634;21693764;21803420;21869842;21897076;21900195;21949683;22028862;22076464;22094587;22162288;22162831;22262849;22373549;22404039;22569213;22578774;22615925;22634393;22733019;22792062;22875624;23000965;23090680;23171811;23382691;23443342;23488608;23563607;23636228;23667531;23741012;23746548;23752268;23838604;24023788;24145651;24240203;24327398;24339741;24469860;24654937;24816145;25015289;2687768;7731705;7761424;7780150;7805037;8168137;8653712;8743990;8889548;8889549;9018121;9171997;9360930;9462753;9651344;9695962 2120 H0YG25;J3KN52;P41212 AA205762;AA452592;ABBA01067826;AC007450;AC084358;AC084430;AI660081;AK289441;AM181353;AMYH02026035;AMYH02026036;AMYH02026037;AMYH02026038;AMYH02026039;AMYH02026040;AV722693;BC020284;BC043399;BC061911;BF510432;BG741145;BM829795;BQ003277;BQ641702;BU681757;CB243807;CB962155;CB996610;CH471094;FR719953;KF455601;NG_011443;NM_001987;T79261;U11732;U45432;U61375;U63312;U63313;U81830;U81834;Z35761 AAA19786;AAB17016;AAB17134;AAB17135;AAB39862;AAB39882;AAC50690;AAH43399;ABZ92003;BAF82130;CAA84815;CAJ57643;EAW96240;NP_001978;P41212 Hs.504765 1334824;1646956;1651963;1656774;1670013;1670865;1677546;1685486;1690278;1705742;1709720;1719379;1734004;1734006;1772286;1773323;1797514;2132121;2132783;2134298;2141664;2170629;2185325 D12S1095;D12S1114;D12S1898;D12S2099;D12S89;ETV6_1939;G17650;RH123417;RH15745;RH45790;RH69295;RH70151;RH78294;RH80259;RH91343;SGC38012;SHGC-52601;SHGC-83462;SHGC-86351;STS-U11732;STS-U45431;STS-U45432;WI-20943 TEL;TEL/ABL ETS translocation variant 6;ETS-related protein Tel1;OTTHUMP00000238976;TEL1 oncogene;ets variant gene 6 (TEL oncogene);transcription factor ETV6 APPROVED protein-coding ENSG00000139083 HGNC:3495 15976 600618;601626 REVIEWED 1348415 EVX2 even-skipped homeobox 2 This gene is located at the 5' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. A 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes this gene and the HOXD9-HOXD13 genes, causes synpolydactyly, a dominantly inherited disease resulting in limb malformation. [provided by RefSeq, Sep 2009] 2 2 2 q31.1 170553985 170557840 - 176944835 176948690 - 176080107 176083962 - 1580863;6480464 10440834;11060466;11181995;11778160;12136098;15815621;1675198;18029348;22699663;7581388;7896287 344191 Q03828 ABBA01062216;AC009336;AJ329487;AJ329526;AMYH02005296;CH471058;M59982;M59983;NG_012893;NM_001080458 AAA52414;EAX11096;NP_001073927;Q03828 Hs.452341 EVX-2 OTTHUMP00000217529;eve, even-skipped homeo box homolog 2;eve, even-skipped homeo box homolog 2 (drosophila);even-skipped homeo box 2 (homolog of Drosophila eve);homeobox even-skipped homolog protein 2 APPROVED protein-coding HGNC:3507 142991 REVIEWED 1605079 EVL Enah/Vasp-like ENCODES a protein that exhibits profilin binding (ortholog); SH3 domain binding (ortholog); INVOLVED IN negative regulation of epithelial cell migration; negative regulation of ruffle assembly; positive regulation of stress fiber assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; cytoplasm (ortholog); focal adhesion (ortholog); INTERACTS WITH 17beta-estradiol; aflatoxin B1; arsenous acid 14 14 14 q32.2 80586599 80665405 + 100485719 100610573 + 100019382 100144236 + 6480464;8554872 10747096;10892742;10931946;10945997;10993894;12029088;12477932;14506234;14702039;15302935;15469845;15469846;15489334;15656790;15939738;16055720;16336193;16341674;16376568;16631741;16806233;17207965;17998398;18264139;18357390;19329439;19725871;19946888;20379614;20639531;21044950;21398369;22145905;22190034;23275563;23824909;24816145;8619474;9110174;9268706 51466 B7Z3I5;G3V2K5;G3V314;G3V3G2;G3V535;G3V5F7;H0YJL6;H0YJN0;Q9UI08 ABBA01048540;ABBA01048541;AF052504;AF087843;AF112209;AF131766;AK092467;AK289720;AK295919;AK301379;AL133368;AL133523;AL133642;AL157912;AMYH02029847;BC023997;BC032358;BC049376;BQ083568;CH471061;KF456005;KF456007;KF456010;NM_016337;XM_005267749;XM_006720168;XM_006720169;XM_006720170 AAD20040;AAF17197;AAF21709;AAH23997;AAH32358;AAH49376;AAP97156;ABM84269;ADQ31798;BAF82409;BAG62920;BAH12221;CAB63763;EAW81684;EAW81685;EAW81686;EAW81687;NP_057421;Q9UI08;XP_005267806;XP_006720231;XP_006720232;XP_006720233 Hs.125867 1684962;1767319;1770873;1773035;2139862;2139886;2164102;2164830;2171394;5020948 A002P22;D2S2679;G06249;G35408;G35471;G35510;G35521;G35781;G36109;RH93710 RNB6 OTTHUMP00000246339;OTTHUMP00000246340;OTTHUMP00000246341;ena/VASP-like protein;ena/vasodilator-stimulated phosphoprotein-like protein-coding ENSG00000196405 HGNC:20234 10942 VALIDATED 1350871 EVI5 ecotropic viral integration site 5 ENCODES a protein that exhibits Rab GTPase activator activity; Rab GTPase binding; INVOLVED IN positive regulation of GTP catabolic process; positive regulation of Rab GTPase activity; retrograde transport, endosome to Golgi; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol; Golgi apparatus; intracellular membrane-bounded organelle; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; benzo[a]pyrene; calcitriol 1 1 1 p22.1 91227114 91511542 - 92974253 93257961 - 92508696 92792404 - 1580863;6480464;8554872 15146197;16033705;16439210;16565220;16710414;16764853;17099728;17229837;17562788;17646400;18401352;19077034;19322201;19506219;19525955;19834503;19865102;20008790;20087403;20301492;20686565;21833088;23669355;24097068;24130709;24250222;9618176 7813 O60447;Q59FE7 AB209513;AB449875;ABBA01045532;ABBA01045533;ABBA01045534;ABBA01045535;ABBA01045536;ABBA01045537;ABBA01045538;ABBA01045539;ABBA01045540;ABBA01045541;AC104332;AC104456;AF008915;AL133332;AL354890;AMYH02001482;AMYH02001483;AMYH02001484;AMYH02001485;AMYH02001486;AMYH02001487;AMYH02001488;CN334472;NM_005665;XM_005271179;XM_005271180;XM_005271182;XM_006710884;XM_006710885;XM_006710886;XM_006710887;XM_006710888;XM_006710889;XM_006710890 AAC16031;AAI41545;AAI56794;BAD92750;BAH16618;NP_005656;O60447;XP_005271236;XP_005271237;XP_005271239;XP_006710947;XP_006710948;XP_006710949;XP_006710950;XP_006710951;XP_006710952;XP_006710953 Hs.594434 1334783;1338601;1339067;1664535;1678279;1730574;1751577;1771950;1787600;1851825;1858036;1870646;2108069;2115255;2118539;2126807;2170756;2178954;2187499;5015404;5015959;5016478;5019765;5022200;5022588;5037552 A009A23;A009Q14;AL009335;AL009825;Cda0oc09;D10S2448;D1S182;D1S2479;D1S2776;D1S406;D5S1597E;D7S474;D8S2279;EVI5_8763;G31088;G32770;GDB:434012;L17705;L18426;REN5996;RH91126;SGC32492;SHGC-105578;SHGC-155928;SHGC-53279;SHGC-75139 EVI-5;NB4S OTTHUMP00000012581;dJ846D11.1 (ecotropic viral integration site 5);ecotropic viral integration site 5 protein homolog;neuroblastoma stage 4S gene protein protein-coding ENSG00000067208 HGNC:3501 04249 602942 VALIDATED 7243076 EVX1-AS EVX1 antisense RNA p15.2 16344560;9847074 101410536 AC004080;DA866249;DB260732;DB455833;NR_120507 Hs.687800 2059552;2059562 REN100951;REN100956 EVX1-AS1 ncrna HGNC:40223 VALIDATED 1347720 EVI5L ecotropic viral integration site 5-like ENCODES a protein that exhibits Rab GTPase activator activity; Rab GTPase binding; INVOLVED IN negative regulation of cilium assembly; positive regulation of GTP catabolic process; positive regulation of Rab GTPase activity; INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 19 19 19 p13.2 7766398 7801160 + 7895161 7929862 + 7830275 7864976 + 6480464 12477932;14702039;15489334;16189514;16923123;17646400;19060904;19077034;20205591;21163940;23602568;23669355 115704 M0QYX4;M0R1Y1;Q96CN4 AB449874;ABBA01010881;ABBA01010882;ABBA01010883;AC008812;AC010336;AK091609;AMYH02035410;BC014111;BI755965;BI913004;CH471139;KC877702;KF456491;NM_001159944;NM_145245;XM_005272458 AAH14111;BAH16617;EAW68973;EAW68974;EAW68975;NP_001153416;NP_660288;Q96CN4;XP_005272515 Hs.26870 1667757;1739931;5015961;5022588 D15S1477;D19S848;D5S1597E;RH35995 EVI5-like protein;ecotropic viral integration site 5-like protein protein-coding ENSG00000142459 HGNC:30464 10044 VALIDATED 1605271 EXD1 exonuclease 3'-5' domain containing 1 ENCODES a protein that exhibits 3'-5' exonuclease activity (inferred); nucleic acid binding (inferred); INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); INTERACTS WITH hydroquinone O-beta-D-glucopyranoside; kojic acid; 17beta-estradiol (ortholog) 15 15 15 q15.1 18242813 18290873 - 41474926 41522955 - 41182728 41230757 - 6480464 12477932;20379614;20639865 161829 H0YK66;Q8NHP7 ABBA01038419;ABBA01038420;ABBA01038421;ABBA01038422;ABBA01038423;AC012652;AC022408;AK123414;AK292524;AK302864;AMYH02030264;AMYH02030265;BC030628;CH471125;DC404441;HC007148;NM_001286441;NM_152596;XM_006720415 AAH30628;ABM83411;ABM86622;BAC85610;BAF85213;BAH13825;CBH19379;EAW92473;NP_001273370;NP_689809;Q8NHP7;XP_006720478 Hs.307999 1697954;5015861;5015879;5020740;5022588;5037552;7185938 D10S16;D5S1597E;D8S2279;GDB:314949;L17809;RH102506 EXDL1;MGC33637 OTTHUMP00000160721;exonuclease 3'-5' domain-containing protein 1;exonuclease 3'-5' domain-like 1;exonuclease 3'-5' domain-like-containing protein 1 protein-coding ENSG00000178997 HGNC:28507 14571 VALIDATED 1349081 EXLD1 extracellular link domain containing, 1 26283 HGNC:3510 1319820 EXO1 exonuclease 1 This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008] 1 1 1 q42-q43 215267055 215308778 + 242011491 242053241 + 241848189 241889939 + 2306716;4892268;6480464;6907045;8554872;8662366 18157157;20690856;21321022 10364235;10608837;10856833;11375940;11427529;11429708;11809771;11842105;12414623;12477932;12517792;12704184;14623461;14636568;14676842;14756672;15146197;15225546;15302935;15328369;15489334;15550454;15886194;16143102;16195237;16344560;16710414;17148452;17426132;17656264;17855454;18048416;18079015;18205772;18270339;18559551;18676680;18940926;18971343;19012493;19015241;19064572;19074885;19170196;19331228;19515603;19625176;19626040;19692168;19698732;19846925;20019063;20126648;20337148;20379614;20429728;20447876;20453000;20643645;20854105;21052091;21325134;21496642;21533173;21693764;21808022;21862834;21890473;21906983;21963094;22146767;22179609;22205538;22222486;22230721;22267201;22296401;22326273;22987153;23754438;23835406;2414623;24255178;24829445;8889548;9685493;9788596;9823303 9156 E5RGY3;E5RHK1;H0YAZ2;Q5T397;Q5T398;Q5T399;Q9UQ84 ABBA01033259;AC004783;AF042282;AF060479;AF084974;AF091740;AF091742;AF091754;AF549168;AK291291;AL080139;AL365366;AMYH02003040;BC007491;BM465399;BM983504;CA430743;CD644038;CH471098;CN348533;DA661516;KF455175;NG_029100;NM_003686;NM_006027;NM_130398;XM_005273350;XM_006711840 AAC32259;AAC32424;AAC33874;AAC63043;AAC69879;AAC69880;AAD13754;AAH07491;AAN39382;ABM83958;ABW03555;BAF83980;CAB45733;EAW70103;EAW70104;EAW70105;EAW70106;NP_003677;NP_006018;NP_569082;Q9UQ84;XP_005273407;XP_006711903 Hs.498248 2118244 AL010043 HEX1;hExo1 OTTHUMP00000037878;OTTHUMP00000037879;exonuclease I;hExoI;rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 APPROVED protein-coding ENSG00000174371 HGNC:3511 06932 606063 REVIEWED 1601975 EXO5 exonuclease 5 ENCODES a protein that exhibits 4 iron, 4 sulfur cluster binding; single-stranded DNA 5'-3' exodeoxyribonuclease activity; INVOLVED IN DNA catabolic process, exonucleolytic; interstrand cross-link repair; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; calcitriol 1 1 1 p34.2 39256825 39264621 + 40974391 40982228 + 40508719 40516556 + 6480464;8554872 12477932;14702039;15302935;17207965;21139048;23095756 64789 Q9H790;X6RCL8;X6RCY3;X6RF29;X6RK18;X6RLK1 ABBA01023172;AF086542;AK021507;AK023245;AK024797;AK094092;AL603839;AMYH02000855;BC021969;CH471059;NM_022774;XM_005271125;XM_005271126;XM_005271128 AAH21969;ADQ32624;BAB15008;EAX07210;EAX07211;EAX07212;EAX07213;EAX07214;NP_073611;Q9H790;XP_005271182;XP_005271183;XP_005271185 Hs.59584 1697054;2122475;5015619;5022578 D11S3114;D1S1423;RH102006;SHGC-58419 C1orf176;DEM1;Exo V;FLJ11445;FLJ13183;FLJ21144;hExo5 OTTHUMP00000008383;OTTHUMP00000008384;OTTHUMP00000008385;OTTHUMP00000008386;OTTHUMP00000008387;OTTHUMP00000008388;OTTHUMP00000008389;OTTHUMP00000008390;OTTHUMP00000008391;defects in morphology 1 homolog;defects in morphology protein 1 homolog;exonuclease V;probable exonuclease V APPROVED protein-coding ENSG00000164002 HGNC:26115 07955 PROVISIONAL 1312667 EXOC1 exocyst complex component 1 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 4 4 4 q12 54226215 54277630 + 56719802 56771244 + 55853636 55905078 + 6480464;6484113;8554872 11042152;11406615;11493706;12477932;12665801;12687004;14525976;14702039;15037366;15489334;17043677;18541705;19889084;19889837;19946888;21139048;21241894;21565611;21906983;22534017;22797925;23522008;23817570;9405631;9655500 55763 Q9NV70 ABBA01003418;AC110611;AF208854;AK001755;AK023461;AK027047;AK027413;AL833208;AMYH02009251;AMYH02009252;AW589689;BC019237;BC020650;BC094751;BI760313;BM468054;CH471057;NM_001024924;NM_018261;NM_178237;XM_005265747;XM_005265748;XM_005265750;XM_006714042;XM_006714043 AAF64268;AAH19237;AAH20650;AAH94751;BAA91886;BAB55095;EAX05473;EAX05474;EAX05475;EAX05476;NP_001020095;NP_060731;NP_839955;Q9NV70;XP_005265804;XP_005265805;XP_005265807;XP_006714105;XP_006714106 Hs.269665 1648049;1654575;1760377;1774491;1796734;5124229 RH98748;SEC3_1440;SHGC-142121;SHGC-67788;SHGC-67947;WI-22710 BM-102;FLJ10893;SEC3;SEC3L1;SEC3P OTTHUMP00000128358;OTTHUMP00000159214;OTTHUMP00000218759;SEC3-like 1;exocyst complex component Sec3 APPROVED protein-coding ENSG00000090989 HGNC:30380 07615 607879 REVIEWED 1606281 EXD3 exonuclease 3'-5' domain containing 3 ENCODES a protein that exhibits 3'-5' exonuclease activity (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; bisphenol A 9 9 9 q34.3 110717558 110832531 - 140201346 140317714 - 137306880 137423262 - 6480464 12477932;14702039;16189514;16344560;19060904;21145461 54932 E9PI94;E9PN82;E9PSB6;H0YD51;Q8N9H8;Q9NX53 AB061798;ABBA01022757;ABBA01022758;ABBA01022759;ABBA01022760;ABBA01022761;ABBA01022762;ABBA01022763;ABBA01022764;ABBA01022765;ABBA01022766;ABBA01022767;AI682614;AK000440;AK055004;AK091390;AK094438;AL536907;AMYH02021929;AMYH02021930;AMYH02021931;AMYH02021932;AMYH02021933;AMYH02021934;AMYH02021935;BC033079;BC037355;BC039252;BC065002;BC069205;BC110879;BC131749;BU947354;BX322799;CH471090;DA071548;DA328221;NM_001286823;NM_017820;NR_104598;NR_104599;XM_005266093;XM_006717151;XM_006717152;XM_006717153;XM_006717154;XM_006717155;XM_006717156;XM_006717157;XM_006717158;XM_006717159;XM_006717160;XM_006717161 AAH37355;AAH39252;AAH65002;AAI10880;BAA91167;BAB70838;BAC04356;BAC10986;EAW88381;EAW88382;EAW88383;EAW88384;NP_001273752;NP_060290;Q8N9H8;Q9NX53;XP_005266150;XP_006717214;XP_006717215;XP_006717216;XP_006717217;XP_006717218;XP_006717219;XP_006717220;XP_006717221;XP_006717222;XP_006717223;XP_006717224 Hs.495553;Hs.721419 1659790;1757871;2153485;5037552 D8S2279;RH47760;RH47864;SHGC-146746 FLJ20433;FLJ30442;MGC131904;MGC74981;mut-7 OTTHUMP00000209270;exonuclease 3'-5' domain-containing protein 3;exonuclease mut-7 homolog;probable exonuclease mut-7 homolog;probable exonuclease mut-7 homolog, isoform 5 protein-coding ENSG00000187609 HGNC:26023 07906 VALIDATED 1344299 EVX1 even-skipped homeobox 1 This gene encodes a member of the even-skipped homeobox family characterized by the presence of a homeodomain closely related to the Drosophila even-skipped (eve) segmentation gene of the pair-rule class. The encoded protein may play an important role as a transcriptional repressor during embryogenesis. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27271101 27275129 + 27282164 27287438 + 27242545 27247819 + 1580863;6480464;8554872 12690205;12853948;1684419;20445134;22145905;22178155;23972371;7499236;9847074 2128 F8W9J5;J3QQJ1;P49640 ABBA01056763;AC004080;AK298822;AK299188;AK314155;AMYH02015408;CH236948;CH471073;KF458418;NM_001989;U68781;U68782;X60655;XM_005249639;XM_005249640 AAB07598;AAI52724;BAG60952;BAG61232;CAA43062;EAL24216;EAW93892;NP_001980;P49640;XP_005249696;XP_005249697 Hs.369879 1723497;1798910;1799588;1801384;1803566;1811382;1823588;1824098;2059536;2059538;2059540;2059542;2059544;2059546;2059548;2059550;2059552;2059554;2059556;2059558;2059560;2059564;2059566;2059568;2059570;2059572;2059574;2059576;2059578;2059580;2059582;2059584;2059586;2059588;2160283;2192320;2192322;5024693 ECD00296;ECD00646;ECD01565;ECD02685;ECD06689;ECD12886;ECD13145;EVX1;REN100943;REN100944;REN100945;REN100946;REN100947;REN100948;REN100949;REN100950;REN100951;REN100952;REN100953;REN100954;REN100955;REN100957;REN100958;REN100959;REN100960;REN100961;REN100962;REN100963;REN100964;REN100965;REN100966;REN100967;REN100968;REN100969;RH118565;RH79928;stSG609438;stSG609440 EVX-1 OTTHUMP00000217285;eve, even-skipped homeo box homolog 1;eve, even-skipped homeo box homolog 1 (drosophila);eve, even-skipped homeobox homolog 1;even-skipped homeo box 1 (homolog of Drosophila);homeobox even-skipped homolog protein 1 APPROVED protein-coding ENSG00000106038 HGNC:3506 00876 142996 REVIEWED 1605832 EXOC3L1 exocyst complex component 3-like 1 INVOLVED IN exocytosis (ortholog); peptide hormone secretion (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN exocyst (ortholog); secretory granule (ortholog); INTERACTS WITH pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 16 16 16 q22.1 51726514 51732339 - 67217652 67224112 - 67184379 67190204 - 6480464;8554872 12477932;14702039;16344560;18480549;21347282 283849 F5H4W1;H3BPA4;H3BRW6;H3BTH9;Q86VI1 ABBA01025432;AC040160;AC074143;AI796350;AK092858;AK092906;AK292004;AK300915;AMYH02032226;BC034287;CH471092;DA945486;NM_178516 AAI67852;BAC03991;BAC04000;BAF84693;BAH13376;EAW83092;EAW83093;NP_848611;Q86VI1 Hs.647356 EXOC3L;FLJ35539;FLJ35587;MGC88052 OTTHUMP00000174802;exocyst complex component 3-like protein;protein Jiangli APPROVED protein-coding ENSG00000179044 HGNC:27540 14148 614117 VALIDATED 1344149 EXOC3 exocyst complex component 3 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008] 5 5 5 p15.33 541456 565545 + 443305 467414 + 443190 467299 + 737633;1580863;6480464;6484113 12477932 11406615;11865051;12687004;12693554;12738960;12954101;14525976;15037366;15489334;18329369;19889837;20360068;20706999;20736409;21297633;21639856;21832049;21988832;22172676;22381337;22534017;22939629;23956138;24816145;8619474;8982167;9110174;9405631;9655500 11336 D6RB59;D6RBR9;H0Y995;O60645;Q69YP2 AA487875;ABBA01034257;AC010442;AF055006;AI628051;AK074086;AK131103;AK315749;AL545132;AL589499;AL832434;AMYH02010752;AX405716;BC001511;BC019304;BC034427;BC064569;CH471235;GU727644;NM_007277;XM_005248238;XM_005248239 AAC09358;AAH01511;AAH19304;AAH64569;ADU87645;BAB84912;BAC85153;BAG38103;CAD34823;CAH10613;EAW51000;EAW51001;EAW51002;EAW51003;NP_009208;O60645;XP_005248295;XP_005248296 Hs.481464 1658214;1740403;1761977;2126305;2145274;2145276;2163374 D5S2220E;HSCZPD012;RH15992;RH41870;SHGC-145906;SHGC-54627;WI-16020 SEC6;SEC6L1;Sec6p OTTHUMP00000221555;SEC6-like 1;Sec 6 homolog;exocyst complex component Sec6;sec6-like 1 (s. cerevisiae) APPROVED protein-coding ENSG00000180104 HGNC:30378 09738 608186 REVIEWED 1348584 EXOC2 exocyst complex component 2 The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 6 6 6 p25.3 1712777 1920468 - 485138 693141 - 485136 693141 - 1580863;6480464;6484113;8554872 11493706;11744922;12459492;12477932;12575951;12624092;12687004;12839989;14525976;14574404;14702039;14980502;15037366;15302935;15489334;15920473;16344560;17018283;17952075;18483556;18697830;19166349;19340012;19946888;20145037;20379614;20570966;20616560;20685960;21139048;21197618;21241894;21700618;21890473;21906983;21963094;21988832;22505724;22534017;22761837;22797925;22885689;22939629;23064961;23470693;23548203;23844030;24056301;24816145;9405631;9655500 55770 Q2MDF5;Q96KP1 ABBA01048665;ABBA01048666;AJ414403;AJ420556;AK001888;AK056564;AK302941;AK314628;AL031770;AL357054;AL512308;AL833209;AL833213;AMYH02012955;AMYH02012956;AMYH02012957;AMYH02012958;AMYH02012959;BC016918;BC080542;CH471087;DA228027;NM_018303;NR_073064;XM_006715141;XM_006715142 AAH16918;AAH80542;BAA91963;BAG37193;BAG51749;BAG64099;CAC92092;CAI46189;EAW55061;EAW55062;NP_060773;Q96KP1;XP_006715204;XP_006715205 Hs.484412 1648510;1649974;1694966;1773261;1798136;1858255;2122260;2124621;2129324;2158798;5021916 AL035370;D6S962;RH37466;RH45976;RH68454;RH68754;SEC5_1861;SHGC-35174;SHGC-64315;STS-AA019205;ha3001 FLJ11026;SEC5;SEC5L1;Sec5p OTTHUMP00000164193;SEC5-like 1;exocyst complex component Sec5 APPROVED protein-coding ENSG00000112685 HGNC:24968 11544 615329 REVIEWED 6482176 EXOC5P1 exocyst complex component 5 pseudogene 1 4 4 4 q13.1 61140318 61142283 + 63682544 63684509 + 62816826 62818791 + 644548 ABBA01022846;AC108048;AMYH02009332;NG_022058 1735368;2153493 D4S2339;D4S2497E pseudo HGNC:43870 INFERRED 1322357 EXD2 exonuclease 3'-5' domain containing 2 ENCODES a protein that exhibits 3'-5' exonuclease activity (inferred); nucleic acid binding (inferred); INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; bisphenol A; lead(0) 14 14 14 q24.1 49722349 49774877 + 69658194 69710737 + 69191477 69244020 + 6480464;8554872 12477932;14702039;15489334;16344560;18029348;21139048;21890473;24654937 55218 A8K948;C9JLF4;Q86TX3;Q9NVH0 ABBA01023678;ABBA01023679;ABBA01023680;AK001600;AK056025;AK292563;AK295601;AL359317;AL834434;AMYH02029430;AMYH02029431;AMYH02029432;AU143711;AX877083;BC001962;BX161412;BX647767;CH471061;CR936728;CR936729;DB087350;DC369956;KF455922;KF455926;NM_001193360;NM_001193361;NM_001193362;NM_001193363;NM_018199;NR_034164;NR_034165;XM_005267817;XM_005267818;XM_006720190 AAH01962;ACE86606;ACE87287;BAA91781;BAF85252;BAG51607;BAG58488;CAD39094;CAD61888;CAE89563;CAH10568;EAW80984;EAW80985;NP_001180289;NP_001180290;NP_001180291;NP_001180292;NP_060669;Q9NVH0;XP_005267874;XP_005267875;XP_006720253 Hs.533878 1651772;1675019;1693804;1719743;1736440;1771871;1773057;2123078;2140443 D14S703E;RH11336;RH123562;RH44770;SGC32419;SHGC-58944;STS-R38777;WI-20713;WI-22250 C14orf114;DKFZp781A0133;DKFZp781L15100;EXDL2;FLJ10738 OTTHUMP00000205813;OTTHUMP00000205814;OTTHUMP00000205816;OTTHUMP00000205817;OTTHUMP00000205818;chromosome 14 open reading frame 114;exonuclease 3'-5' domain-containing protein 2;exonuclease 3'-5' domain-like 2;exonuclease 3'-5' domain-like-containing protein 2 protein-coding ENSG00000081177 HGNC:20217 16592 VALIDATED 1316345 EWSR1 EWS RNA-binding protein 1 This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009] 22 22 22 q12.2 13463861 13496373 + 29663998 29696515 + 29268009 29300525 + 1598915;1580863;6480464;7240710;8699517 1522903 10322114;10767297;10827180;10838070;10949935;1127890;11278906;11422378;11960373;11992546;12049818;12183411;12359745;12432261;12459554;12477932;12527902;12527906;12915128;14534527;14702039;15021903;15044653;15231748;15282325;15324660;15461802;15489334;15635413;15782174;15884099;15917470;15919668;16055720;16189514;16327442;16335966;16344560;16713569;16740692;16965792;17114343;17163154;17220478;17353931;17638877;17647282;17724745;17725712;18212050;18223324;18239623;18271016;18320585;18347058;18383210;18413612;18414662;18453593;18580682;18587326;18620564;18632687;18648544;18838963;18974141;19074838;19133275;19144156;19170206;19189974;19212622;19247449;19289832;19305498;19322201;19404404;19417137;19492315;19542561;19559696;19561568;19673543;19718047;19738201;19775727;19837262;19859563;19879242;19928837;20019092;20051954;20103643;20203285;20211142;20211855;20308669;20308673;20382729;20442286;20660338;20665663;20691659;20815032;20933505;20972445;21113140;21139048;21145461;21182205;21212061;21267687;21344536;21411698;21484932;21555518;21643012;21725291;21793187;21816343;21853155;21856723;21890473;21906983;21956701;21962892;21979944;21987447;21987572;21988832;21997693;22038502;22053931;22086061;22145905;22153153;22174317;22266186;22446626;22454397;22510762;22569967;22570737;22586326;22623428;22751105;22910415;22925827;22930730;22939629;22986530;23000965;23049996;23145994;23178492;23399793;23426124;23441188;23455922;23455924;23463506;23535729;23552423;23588368;23588370;23630070;23706910;23715163;23831569;23862649;23940108;24124617;24320889;24321497;24332808;24441665;24457600;24816145;24928395;7542907;8084618;8125298;8307570;8401579;8522311;8552387;8570200;8604338;8889548;8921363;8954779;8975699;9010223;9201297;934118;9341188;9488465;9660765;9704926 2130 B0QYJ3;B0QYJ4;B0QYJ5;B0QYJ6;B0QYJ7;B0QYK0;C9JGE3;F8WC90;H7BY36;Q01844 AB016435;ABBA01055260;ABBA01055261;AC000026;AC002059;AI564543;AK026270;AK056309;AK056681;AK096787;AK127624;AK225096;AK225102;AL031186;AL833489;AMYH02038198;AW205707;BC000527;BC004817;BC011048;BC072442;BE741903;BM981230;BX648769;CH471095;CQ867364;CR456490;CX786322;DA013931;DA051447;DB051511;DB443651;EU327511;JX977847;KF510580;NG_023240;NM_001163285;NM_001163286;NM_001163287;NM_005243;NM_013986;X66899;X72990;X98745;XM_005261389;XM_005261390;XM_006724166;XM_006724167;XR_430403;Y07848;Y08806 AAH00527;AAH04817;AAH11048;AAH72442;ABY40719;AGS36504;BAA31990;BAB71145;BAB71252;CAA47350;CAA51489;CAA69177;CAA70044;CAG30376;CAH33891;CAK54518;CAK54817;EAW59780;EAW59781;EAW59782;EAW59783;EAW59784;EAW59785;EAW59786;EAW59787;NP_001156757;NP_001156758;NP_001156759;NP_005234;NP_053733;Q01844;XP_005261446;XP_005261447;XP_006724229;XP_006724230 Hs.374477 1649280;1768666;2131342;2177499;5117236 G06555;GDB:452619;SGC38366;SHGC-37092;STS-N54946 EWS;bK984G1.4 EWS RNA-binding protein variant 6;EWS oncogene;Ewing sarcoma breakpoint region 1;Ewings sarcoma EWS-Fli1 (type 1) oncogene;OTTHUMP00000199146;OTTHUMP00000199147;OTTHUMP00000199148;OTTHUMP00000199149;OTTHUMP00000199150;OTTHUMP00000199152;OTTHUMP00000199156;OTTHUMP00000217043;RNA-binding protein EWS APPROVED protein-coding ENSG00000182944 HGNC:3508 00592 133450;612219 REVIEWED 1605316 EXOC3L2 exocyst complex component 3-like 2 INVOLVED IN exocytosis (inferred); FOUND IN exocyst (inferred); INTERACTS WITH hydralazine; valproic acid; benzo[a]pyrene (ortholog) 19 19 19 q13.32 42521452 42543042 - 45715879 45737469 - 45212621 45234211 - 6480464 12477932;14702039;19197348;20460622;21566143;22139419;22381399;23663385;8125298;8889549 90332 Q2M3D2 AA069926;ABBA01040914;ABBA01040915;AC006126;AF490256;AK093466;AK225791;AMYH02036193;AMYH02036194;BC104947;BC104949;CH471126;NM_138568 AAI04948;AAI04950;AAO85464;BAC04175;EAW57331;NP_612635;Q2M3D2 Hs.337557 1698020;2107777;5016781 RH102539;SHGC-67307;XTP7__4915 FLJ36147;MGC16332;XTP7 HBV X-transactivated gene 7 protein;HBV XAg-transactivated protein 7;OTTHUMP00000207128;exocyst complex component 3-like protein 2;protein 7 transactivated by hepatitis B virus X antigen (HBxAg) protein-coding ENSG00000130201 HGNC:30162 10311 VALIDATED 6482174 EXOC7P1 exocyst complex component 7 pseudogene 1 4 4 4 q25 106633724 106635779 - 109338864 109340919 - 108417708 108419763 - 391681 ABBA01063760;AC005510;AMYH02009883;NG_022023 pseudo HGNC:43871 INFERRED 1349636 EXOC3L4 exocyst complex component 3-like 4 INVOLVED IN exocytosis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN exocyst (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; chloroprene (ortholog) 14 14 14 q32.32 83620482 83630896 + 103561044 103576896 + 103099617 103110559 + 6480464;8554872 12477932;15489334;22001757;22010049;22139419 91828 H0YNJ4;H0YNV0;H0YNV7;Q17RC7 ABBA01048436;ABBA01048437;AK000671;AL161669;AMYH02029917;BC113655;BC117375;BX279908;HG506669;NM_001077594;XM_006720304;XM_006720305 AAI13656;AAI17376;ADR83343;NP_001071062;Q17RC7;XP_006720367;XP_006720368 Hs.37712 1646588;1657770;1694864;5093766 A009W17;G32911;G44306;RH78715 C14orf73;RP11-736N17.8 SEC6-like protein C14orf73;exocyst complex component 3-like protein 4 APPROVED protein-coding ENSG00000205436 HGNC:20120 VALIDATED 1349809 EXOC6B exocyst complex component 6B In yeast and rat, Sec15 is part of a multiprotein complex that is required for targeted exocytosis.[supplied by OMIM, Apr 2004] 2 2 2 p13.2 72256455 72902975 - 72403113 73053177 - 72175984 72826048 - 1580863;6480464;8554872 10231032;11406615;12477932;14702039;18424204;20195357;21139048;21906983;22433857;23000965;23837398;23956138;24816145;9847074 23233 F8W6R7;J3QT38;Q9H8D6;Q9Y2D4 AB023136;ABBA01075563;ABBA01075564;ABBA01075565;ABBA01075566;ABBA01075567;ABBA01075568;ABBA01075569;ABBA01075570;ABBA01075571;ABBA01075572;ABBA01075573;AC006461;AC016770;AC092630;AC104309;AC105051;AK023791;AK026474;AMYH02004064;AMYH02004065;AMYH02004066;AMYH02004067;AMYH02004068;AMYH02004069;BC029921;BX951761;DR001300;NM_015189;XM_005264223;XM_005264224;XM_006711970 AAI60001;BAA76763;BAB14681;NP_056004;Q9Y2D4;XP_005264280;XP_005264281;XP_006712033 Hs.303454 1335170;1703276;1706344;1713645;1723399;1751965;1851207;1924716;2119511;2125696;2132997;2141713;2151703;2169802;2181191;2184258;5092740 A005W10;A006T25;A007H43;D2S1374;G10603;G32299;REN33183;RH118511;RH120704;RH45171;RH45931;RH69469;SHGC-105979;SHGC-34188;SHGC-68261;SHGC-80738;WI-14051 KIAA0919;SEC15B;SEC15L2 OTTHUMP00000202267;OTTHUMP00000202269;SEC15 homolog B;SEC15-like 2;SEC15-like protein 2;WUGSC:H_NH0343N14.1;exocyst complex component Sec15B APPROVED protein-coding ENSG00000144036 HGNC:17085 607880 VALIDATED 7174866 EXOGP1 endo/exonuclease (5'-3'), endonuclease G-like pseudogene 1 18 18 18 q11.1 15566878 15569459 - 18760813 18763394 - 21180852 21183433 - 100128324 ABBA01022697;AC022809;AMYH02034370;NG_009889 pseudo HGNC:44547 INFERRED 1353036 EXOC4 exocyst complex component 4 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 q31 127689360 128501714 + 132937823 133750514 + 133253067 134065761 + 1580863;6480464;6484113;8554872 11076863;11214970;11230166;11256614;11406615;11865051;12477932;12544826;12675619;12687004;12690205;12738960;14525976;14702039;15037366;15489336;15880602;16381901;16964243;17043677;17353931;17643375;17903302;18329369;18480549;18498660;18541705;18987618;19889837;19946888;20360068;21139048;21241894;21565611;21890473;22172676;22190034;22505724;22534017;22797925;22939629;23000965;23169490;23207790;23535033;23956138;24816145;25027693;9405631;9630218;9655500 60412 B7Z321;B7Z4J9;Q6NX51;Q96A65 AB051486;ABBA01001100;ABBA01001101;ABBA01001102;ABBA01001103;ABBA01001104;ABBA01001105;AC007790;AC009178;AC009180;AC009358;AC024086;AC083872;AC083875;AC093147;AF132734;AF380839;AK022751;AK027688;AK095495;AK295404;AK297458;AK298191;AK299927;AL831989;AL834475;AMYH02016790;AMYH02016791;AMYH02016792;AMYH02016793;AMYH02016794;AMYH02016795;AMYH02016796;AMYH02016797;AMYH02016798;AMYH02016799;AMYH02016800;AMYH02016801;AMYH02016802;AMYH02016803;AMYH02016804;AW451395;BC020607;BC026174;BC067263;BE244117;BE246205;CH236950;CH471070;KF458603;KF458608;KF510980;KF510981;KF510985;NM_001037126;NM_021807;XM_005250523 AAF66445;AAH20607;AAH26174;AAH67263;AAK57456;BAB14225;BAB21790;BAB55298;BAG53069;BAH12057;BAH12585;BAH12738;BAH13175;CAD39134;CAD89977;CAL38306;EAL24073;EAW83804;EAW83805;EAW83806;NP_001032203;NP_068579;Q96A65;XP_005250580 Hs.321273 1338565;1340732;1341758;1646220;1651957;1660830;1667374;1683862;1693796;1708190;1718201;1723401;1748751;1765171;1768449;1848488;1848490;1852202;2122694;2127980;2135650;2137503;2144107;2148926;2152930;2158358;2160662;2161783;2162587;2163368;2163499;2163524;2163774;2172716;2177139;2182206;2182741;5015861;7184948;7185232;7185938;7186475;7187596 A006F06;AFMa099we5;D10S16;D7S1614;D7S2029;D7S2215;D7S2437;D7S2452;D7S2902;D7S681;G20755;G31563;GDB:1234272;GDB:1317262;GDB:1317538;GDB:1317552;GDB:1317574;GDB:1317578;GDB:1317888;GDB:1317890;GDB:1318734;GDB:4585409;RH118512;RH12110;RH122870;RH45693;RH68070;RH68833;SGC44689;SHGC-110384;SHGC-148683;SHGC-53302;SHGC-58935;SHGC-79348;WI-12426;WI-12642;WI-14795;WI-17694 MGC27170;REC8;SEC8;SEC8L1;Sec8p OTTHUMP00000207625;OTTHUMP00000207648;SEC8-like 1;exocyst complex component Sec8;sec8-like 1 (s. cerevisiae) APPROVED protein-coding ENSG00000131558 HGNC:30389 12185 608185 REVIEWED 1343470 EXOC8 exocyst complex component 8 INVOLVED IN cellular protein localization (inferred); cellular protein metabolic process (inferred); exocytosis (inferred); ASSOCIATED WITH Agenesis of Cerebellar Vermis (inferred); Joubert syndrome 1 (inferred); Melanoma (inferred); FOUND IN cytoplasm; membrane; INTERACTS WITH arsane; arsenic atom; arsenite(3-) 1 1 1 q42.2 204733352 204738448 - 231468482 231473578 - 231332736 231337832 - 737633;1580863;6480464;8554872 12477932 11406615;12687004;12954101;14525976;14702039;15489334;16189514;16710414;18029348;19060904;19322201;19615732;19946888;20145037;21241894;21890473;21906983;22761837;22889411;22939629;23956138;24056301;24250222;24816145;9405631;9655500 149371 Q8IYI6 ABBA01033037;AK096460;AL117352;AL133716;AMYH02002889;BC035763;CA775845;CH471098;NM_175876 AAH35763;BAG53295;EAW69955;NP_787072;Q8IYI6 Hs.356198 1674936;2108073;2125251;2125253 A005B40;D1S2383;EXOC8__7610;G20249 EXO84;Exo84p;SEC84 OTTHUMP00000036150;exocyst complex 84 kDa subunit;exocyst complex 84-kDa subunit protein-coding ENSG00000116903 HGNC:24659 09943 615283 VALIDATED 1312174 EXOG endo/exonuclease (5'-3'), endonuclease G-like This gene encodes an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq, Feb 2009] 3 3 3 p21.3 38473645 38503721 + 38537763 38583721 + 38496272 38526305 + 1580863;6480464 10231028;12477932;14702039;17415550;18187503;20877624;21768646;21890473;23986585;24250222;24816145;8012384 9941 F2Z2D3;F8WC11;F8WE28;F8WE38;F8WEP0;H0Y8P1;H7C0W6;H7C451;Q9Y2C4 AA993872;AB020523;ABBA01024819;AK023235;AK289602;AK290107;AK301067;AK308814;AK315814;AMYH02006571;AP006241;BC015820;BC065368;BC104212;BC104213;CH471055;NM_001145464;NM_005107;XM_005265633;XM_005265635;XM_006713442;XM_006713443;XM_006713444;XM_006713445;XM_006713446;XM_006713447;Z63425 AAI04213;AAI04214;BAA76752;BAF82291;BAF82796;BAF98705;BAG51171;BAG62674;EAW64537;EAW64538;EAW64539;NP_001138936;NP_005098;Q9Y2C4;XP_005265690;XP_005265692;XP_006713505;XP_006713506;XP_006713507;XP_006713508;XP_006713509;XP_006713510 Hs.517897 1687570;2109285;5095953 ENDOGL1_9021;RH94338;SHGC-32405 ENDOGL1;ENDOGL2;ENGL;ENGL-a;ENGL-b;ENGLB;MGC125944;MGC125945 ENGLA;OTTHUMP00000161969;OTTHUMP00000209093;OTTHUMP00000209096;OTTHUMP00000209790;OTTHUMP00000209791;endo G-like 1;endonuclease G-like 1;endonuclease G-like 2;nuclease EXOG, mitochondrial APPROVED protein-coding ENSG00000157036 HGNC:3347 06813 604051 REVIEWED 1352643 EXOSC1 exosome component 1 This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. [provided by RefSeq, Jul 2008] 10 10 10 q24 92903619 92943824 - 99195666 99205808 - 97435909 97446051 - 1580863;6480464 10810093;11110791;11719186;11812149;11879549;12419256;12477932;12788944;14702039;15164054;15231747;15489334;15635413;16344560;17174896;18029348;19060904;20531386;20531389;21139048;21163940;21255825;21832049;21890473;22068837;22174317;22505724;23000965;23349634;23602568;23824909;24250222 51013 B1AMU3;B1AMU4;B1AMU7;Q9Y3B2;R4GMQ7;R4GNH9 ABBA01021803;AF151866;AK091709;AK307229;AK313717;AL355490;AMYH02023609;BC012538;BC022067;CH471066;DB137484;NM_016046;XR_246092 AAD34103;AAH22067;ADZ15498;BAG36460;EAW49936;NP_057130;Q9Y3B2 Hs.632089 1667153;1754175;1777467;5014055;5015961;5017475;5037552 D10S2396;D15S1477;D1S3697;D8S2279;EXOSC1;SHGC-132201;WI-11032 CGI-108;CSL4;Csl4p;RP11-452K12.9;SKI4;Ski4p;hCsl4p;p13 3'-5' exoribonuclease CSL4 homolog;CSL4 exosomal core protein homolog;OTTHUMP00000020203;OTTHUMP00000020204;OTTHUMP00000020205;OTTHUMP00000020206;exosomal core protein CSL4;exosome complex component CSL4;homolog of yeast exosomal core protein CSL4 APPROVED protein-coding HGNC:17286 16223 606493 VALIDATED 731494 EXOC5 exocyst complex component 5 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008] 14 14 14 q22.3 37719278 37785703 - 57669194 57735726 - 57202476 57268899 - 1580863;6480464;6484113;8554872 11406615;11865051;12477932;12687004;14525976;14662749;15037366;15146197;15880602;16712791;16713569;19297529;20053792;21139048;21988832;22505724;22797925;22939629;23743675;23956138;24816145;8889548;9119050;9405631;9655500 10640 F8W9B8;G3V377;G3V4Z7;O00471;Q8IW24 AA837306;ABBA01018237;AF118083;AK025802;AK295085;AK303531;AK312523;AL118623;AL139195;AL391152;AL833745;AMYH02029257;BC006976;BC020643;BC031298;BC041126;BI460915;BI461191;BM723045;CB145811;CH471061;CN268669;NM_006544;U85946;XM_005267272 AAB53388;AAF22027;AAH41126;BAG35422;BAG58126;BAG64559;CAH56255;EAW80697;EAW80698;EAW80699;NP_006535;O00471;XP_005267329 Hs.743987 1649655;1661596;1689867;1735368;2110725;2138894;2149182;2149818;2182697 D4S2497E;RH17456;RH44844;RH45179;RH69869;SEC10L1__6912;SGC34266;SHGC-32913;SHGC-59490 DKFZp666H126;HSEC10;PRO1912;SEC10;SEC10L1;SEC10P OTTHUMP00000245785;OTTHUMP00000245786;SEC10-like 1;component of rsec6/8 secretory complex p71 (71 kda);exocyst complex component Sec10 APPROVED protein-coding ENSG00000070367 HGNC:10696 07258 604469 REVIEWED 733206 EXOC6 exocyst complex component 6 The product of this gene belongs to the SEC15 family. It is highly similar to the protein encoded by Saccharomyces cerevisiae SEC15 gene. This protein is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q23.33 88335925 88560454 + 94590887 94819251 + 92826831 93059494 + 69939;1580863;6480464;6484113;8554872 8889548 12477932;14702039;15174051;15205466;15292201;15489334;16344560;16385451;16478783;20379614;20944747;21044367;21139048;21163940;21890473;21906983;21963094;22172676;22534017;22939629;23435566;23956138 54536 B1AP46;B3KXY5;E7EW84;F2Z3K0;H0Y5J8;Q8TAG9 ABBA01021882;ABBA01021883;ABBA01021884;ABBA01021885;AF220217;AI039616;AI680957;AK002113;AK123268;AK128190;AK293857;AK300285;AK315544;AL137438;AL157705;AL358613;AL392103;AL590080;AL832501;AMYH02023544;AMYH02023545;AMYH02023546;AMYH02023547;AMYH02023548;AMYH02023549;BC028395;BC041403;BM148225;BM979273;BU674151;CB991016;CH471066;DA187840;DB060830;EF571007;NM_001013848;NM_019053;XM_005269911;XM_005269912;XM_005269913;XM_005269914;XM_005269915;XM_006717896;XM_006717897;XM_006717898;XM_006717899;XM_006717900;XM_006717901 AAF37262;AAH28395;ABQ95573;ACE87850;ACT64374;BAA92088;BAG37922;BAG54647;BAG57252;BAH13251;CAB70736;EAW50082;EAW50083;EAW50084;EAW50085;EAW50086;NP_001013870;NP_061926;Q8TAG9;XP_005269968;XP_005269969;XP_005269970;XP_005269971;XP_005269972;XP_006717959;XP_006717960;XP_006717961;XP_006717962;XP_006717963;XP_006717964 Hs.655657 1663629;1749231;2175918;2179591;2180314;5015621;5022578;5022651;5092882 A006W20;A009B31;D11S2921;D11S3732;D1S1423;G17454;G32389;SHGC-110915;WI-16821 DKFZp761I2124;EXOC6A;FLJ1125;FLJ11251;MGC33397;SEC15;SEC15L;SEC15L1;SEC15L3;Sec15p OTTHUMP00000020105;SEC15-like 1;SEC15-like protein 1;SEC15-like protein 3;exocyst complex component Sec15A APPROVED protein-coding ENSG00000138190 HGNC:23196 10216 609672 REVIEWED 2293248 EXOSC3P1 exosome component 3 pseudogene 1 21 21 21 q22.11 19052752 19053508 + 33869122 33869878 + 32496812 32497568 + 100151640 ABBA01057316;AMYH02037724;AP000271;NG_007654 1776753;1825258;1827132;1829206;1830982;2020524;2020526;2020528;2020530;2020532;2020534;2020536;2020538;2020540;2020542;2020544;2020546;2020548;2099898 ECD13730;ECD14681;ECD15730;ECD16627;REN81231;REN81232;REN81233;REN81234;REN81235;REN81236;REN81237;REN81238;REN81239;REN81240;REN81241;REN81242;REN81243;SHGC-87594;stSG606444 pseudo HGNC:33989 INFERRED 2301482 EXOSC3P2 exosome component 3 pseudogene 2 19 19 19 p13.2 7748845 7750554 - 7877603 7879314 - 7812717 7814428 - 100190954 ABBA01010885;AC008812;AMYH02035407;AMYH02035408;AMYH02035409;NG_008711 pseudo HGNC:33990 INFERRED 1347556 EXOC7 exocyst complex component 7 The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011] 17 17 17 q25.1 70670917 70693691 - 74077086 74099868 - 76080993 76103787 - 737633;1580863;6480464;6484113;6907045;8554872 12477932 10470851;10608757;10610771;11054383;11406615;12687004;12738960;14525976;14702039;15205466;15489334;15705715;16148947;16169070;16189514;16344560;16964243;17043677;17086175;18000879;19946888;21034848;21139048;21241894;21639856;21890473;21906983;22049025;22595671;22939629;23000965;23300727;23948253;23956138;24331928;24816145 23265 B4DJ07;B5MCY9;C9JKC2;C9JME6;K7ENP8;K7ERQ5;Q63HP7;Q9UPT5 AA215645;AB028990;ABBA01028758;ABBA01028759;AC018665;AF067415;AI565863;AI653861;AK000718;AK022397;AK022552;AK023832;AK024769;AK098284;AK128278;AK295871;AL162005;AL834324;AMYH02034006;AY869728;BC011045;BC015165;BC018466;BC029432;BX647763;BX648435;CB989148;CH471099;DA224278;DC319923;FJ457119;FJ457120;HY020675;NG_030672;NM_001013839;NM_001145297;NM_001145298;NM_001145299;NM_001282313;NM_001282314;NM_015219;XM_006721786;XM_006721787;XM_006721788;XM_006721789 AAC25180;AAH11045;AAH15165;AAH18466;AAW65095;ACK36853;ACK36854;BAA83019;BAB14026;BAB14095;BAB14694;BAG58669;CAD38992;CAH56185;EAW89367;EAW89368;EAW89369;EAW89370;EAW89371;EAW89372;EAW89373;EAW89374;NP_001013861;NP_001138769;NP_001138770;NP_001138771;NP_001269242;NP_001269243;NP_056034;Q9UPT5;XP_006721849;XP_006721850;XP_006721851;XP_006721852 Hs.514496 2108071;2143434;5015961 D15S1477;EXOC7__7609;SHGC-36023 2-5-3p;DKFZp686J04253;EX070;EXO70;EXOC1;Exo70p;FLJ40965;FLJ46415;YJL085W OTTHUMP00000198356;OTTHUMP00000198357;OTTHUMP00000198360;OTTHUMP00000198364;OTTHUMP00000198365;exocyst complex component Exo70 APPROVED protein-coding ENSG00000182473 HGNC:23214 16292 608163 REVIEWED 1349336 EXOSC10 exosome component 10 ENCODES a protein that exhibits exoribonuclease activity; poly(A) RNA binding; INVOLVED IN CUT catabolic process; histone mRNA catabolic process; maturation of 5.8S rRNA; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; exosome (RNase complex); membrane; INTERACTS WITH 5-fluorouracil; hydrogen peroxide; menadione 1 1 1 p36.22 10238981 10272253 - 11126675 11159961 - 11066618 11099904 - 1580863;6480464;8554872 10465791;11110791;11426320;11719186;11812149;11879549;12419256;12429849;12477932;12788944;1383382;14527413;14702039;14872500;15231747;15489334;1644924;16455498;17174896;17412707;17545563;18029348;18172165;18854154;19056938;19103309;19220911;19394292;19471022;19946888;20531386;20531389;21139048;21145461;21182205;21252943;21255825;21693764;21705430;21906983;21907836;21963094;21987572;22261302;22586326;22797925;22939629;22980978;24250222;24332808;24654937;24816145;25027693 5394 B4DKG8;K7EJ37;Q01780;Q96G78 AB209236;ABBA01003039;ABBA01003040;ABBA01003041;AJ300188;AK093955;AK123365;AK294058;AK296559;AK308778;AL109811;AMYH02000280;AMYH02000281;AMYH02000282;BC008460;BC009908;BC028687;BC039901;BC073788;CH471130;FB775526;FB775528;L01457;NM_001001998;NM_002685;X66113;XM_005263475;XM_005263476;XR_426611 AAB59352;AAH09908;AAH39901;AAH73788;ACE87037;ACE87721;BAD92473;BAG57405;BAG59180;CAA46904;CAC15569;CAV30720;CAV30721;EAW71677;EAW71678;EAW71679;NP_001001998;NP_002676;Q01780;XP_005263532;XP_005263533 Hs.632368 1733020;1774278;2168355;2179616;5020820 D1S1383;RH44136;RH71349;RH78022;SHGC-32065 PM-Scl;PM/Scl-100;PMSCL;PMSCL2;RRP6;Rrp6p;p2;p3;p4 OTTHUMP00000002176;OTTHUMP00000002177;P100 polymyositis-scleroderma overlap syndrome-associated autoantigen;autoantigen PM-SCL;autoantigen PM/Scl 2;polymyositis/scleroderma autoantigen 100 kDa;polymyositis/scleroderma autoantigen 2 (100kD);polymyositis/scleroderma autoantigen 2, 100kDa protein-coding ENSG00000171824 HGNC:9138 16180 605960 VALIDATED 1322197 EXOSC4 exosome component 4 ENCODES a protein that exhibits AU-rich element binding; INVOLVED IN defense response to virus; DNA deamination; histone mRNA catabolic process; FOUND IN cytoplasm; exosome (RNase complex); nucleus; INTERACTS WITH atrazine; benzo[a]pyrene; cadmium atom 8 8 8 q24.3 141471120 141473149 + 145133522 145135551 + 144078619 144080648 + 1580863;6480464 10465791;11110791;11719186;11790298;11812149;11879549;12419256;12477932;12788944;14527413;14702039;15231747;15489334;15635413;16341674;16912217;17174896;17545563;18172165;20531386;20531389;21139048;21182203;21255825;22863883;22939629;23000965;24457600 54512 E9PI41;E9PPI9;Q9NPD3 ABBA01005225;AC109322;AF281133;AK000598;AMYH02018955;BC002777;BM839994;CH471162;NM_019037 AAF82134;AAH02777;ADZ15834;BAA91279;EAW82166;NP_061910;Q9NPD3 Hs.632041 1683605 RH41937 FLJ20591;RRP41;RRP41A;Rrp41p;SKI6;Ski6p;hRrp41p;p12A OTTHUMP00000229753;OTTHUMP00000229754;exosome complex component RRP41;exosome complex exonuclease RRP41;exosome component Rrp41;ribosomal RNA-processing protein 41 protein-coding ENSG00000178896 HGNC:18189 16221 606491 VALIDATED 1315266 EXOSC2 exosome component 2 ENCODES a protein that exhibits 3'-5'-exoribonuclease activity (inferred); 7S RNA binding (inferred); RNA binding (inferred); INVOLVED IN positive regulation of cell growth; FOUND IN cytoplasm; exosome (RNase complex); nucleus; INTERACTS WITH 17beta-estradiol; afimoxifene; all-trans-retinoic acid 9 9 9 q34 104107689 104118983 + 133569158 133580452 + 130693760 130704894 + 633241;1580863;6480464 1538749 10465791;11110791;11719186;11812149;11879549;12419256;12477932;12788944;14527413;14702039;15175153;15231747;15302935;15489334;15635413;16196087;16344560;16712791;17174896;17545563;17643375;18423202;1868241;19460752;20531386;20531389;21139048;21145461;21255825;2163052;21906983;21907836;2193202;21963094;21987572;22505724;22797925;22863883;22939629;22990118;23349634;24250222;2678002;2989703;3021337;3023859;3313010;6281890;6302194;6316147;6319012;7665185;8453102;8600032;9390555 23404 A3KFL1;A3KFL2;A3KFL4;A3KFL5;B3KQW2;Q13868 ABBA01012059;AK001916;AK022460;AK090512;AK092727;AK296605;AK303163;AL359092;AL573310;AMYH02021770;BC000747;BC128445;BU934039;CB112633;CH471090;DA813307;NM_001282708;NM_001282709;NM_014285;NR_104230;U07561;XM_005272176;XM_006717020;XM_006717021;XM_006717022;XM_006717023;XM_006717024 AAB60392;AAH00747;AAI28446;ABM83679;ABW03545;BAA91977;BAB14043;BAG52174;BAG59218;BAG64263;EAW87941;EAW87942;EAW87943;EAW87944;NP_001269637;NP_001269638;NP_055100;Q13868;XP_005272233;XP_006717083;XP_006717084;XP_006717085;XP_006717086;XP_006717087 Hs.654643 1659423;1686686;5015404;5015961;5022200;5022450;5037552;5118576 D10S275;D11S3430;D15S1477;D8S2279;L17705;L18426;RH26892;WI-11508 RRP4;Rrp4p;hRrp4p;p7 OTTHUMP00000022370;OTTHUMP00000022371;OTTHUMP00000022372;OTTHUMP00000022373;OTTHUMP00000022374;exosome complex component RRP4;exosome complex exonuclease RRP4;homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4);homolog of yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonuclease;ribosomal RNA-processing protein 4 protein-coding ENSG00000130713 HGNC:17097 03758 602238 VALIDATED 1317301 EXOSC5 exosome component 5 ENCODES a protein that exhibits RNA binding (inferred); INVOLVED IN defense response to virus; DNA deamination; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay; FOUND IN exosome (RNase complex); transcriptionally active chromatin; INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; cisplatin 19 19 19 q13.1 38692141 38703112 - 41892275 41903289 - 41386370 41397351 - 1580863;6480464 10465791;11110791;11719186;11782436;11812149;11879549;12359762;12419256;12477932;12788944;15231747;15489334;15635413;16189514;16815301;17081983;17174896;17185417;17643375;18157497;18187620;19060904;19460752;20531386;20531389;20660080;21139048;21145461;21255825;21890473;21988832;22174317;22505724;22939629;23392705;23602568;24250222;24816145;8889548 56915 M0R050;M0R102;M0R289;Q9NQT4 ABBA01040806;ABBA01040807;AC011462;AF281134;AF285785;AK314941;AMYH02036134;BC007742;BC107696;BU683254;CH471126;NM_020158 AAF82135;AAH07742;AAI07697;AAM75154;ADZ15693;BAG37447;EAW57038;NP_064543;Q9NQT4 Hs.283741 5109567 D19S625E MGC111224;MGC12901;RRP41B;RRP46;Rrp46p;hRrp46p;p12B chronic myelogenous leukemia tumor antigen 28;exosome complex component RRP46;exosome complex exonuclease RRP46;exosome component Rrp46;ribosomal RNA-processing protein 46 protein-coding ENSG00000077348 HGNC:24662 16222 606492 VALIDATED 1312357 EXOSC3 exosome component 3 This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012] 9 9 9 p11 37713503 37718262 - 37779711 37785089 - 37779714 37785092 - 1580863;6480464;8699517;7240710;8554872 10465791;10810093;11110791;11719186;11782436;11790298;11812149;11879549;12419256;12477932;12788944;15175153;15231747;15342556;15489334;16344560;17174896;17545563;18187620;19056938;20531386;20531389;21139048;21255825;21832049;21890473;21906983;21907836;21963094;22939629;23000965;23564332;23883322;23975261;25144110 51010 Q9NQT5;Q9NYS3 ABBA01050388;AF151860;AF229833;AF281132;AI886209;AK289571;AK290864;AL138752;AMYH02019502;BC002437;BC008880;BE048144;BP237222;CA414231;CF994051;CH471071;DA352003;NG_032780;NM_001002269;NM_016042 AAD34097;AAF42918;AAF82133;AAH02437;AAH08880;ABM82864;ABM86051;BAF82260;BAF83553;EAW58264;NP_001002269;NP_057126;Q9NQT5 Hs.602571;Hs.713483 1674689;5016950;5022651 D11S2921;D19S1122;RH71167 CGI-102;MGC15120;MGC723;PCH1B;RP11-3J10.8;RRP40;Rrp40p;bA3J10.7;hRrp-40;hRrp40p;p10 OTTHUMP00000021392;OTTHUMP00000215531;OTTHUMP00000215532;exosome complex component RRP40;exosome complex exonuclease RRP40;exosome component Rrp40;ribosomal RNA-processing protein 40 APPROVED protein-coding ENSG00000107371 HGNC:17944 16220 606489;614678 REVIEWED 1604627 EXPH5 exophilin 5 ENCODES a protein that exhibits Rab GTPase binding; INVOLVED IN keratinocyte development; multivesicular body sorting pathway; positive regulation of exocytosis; ASSOCIATED WITH Autosomal recessive inheritance (inferred); EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE (inferred); Fragile skin (inferred); FOUND IN endosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 3,3',4,4',5-pentachlorobiphenyl; all-trans-retinoic acid 11 11 11 q22.3 105531076 105619294 - 108376158 108464492 - 108505431 108593765 - 6480464;8699517;7240710;8554872 11773082;12062444;12189142;12477932;12590134;15231748;15342556;15489334;16880209;19322201;19966785;20936779;21906983;23176819;24005056;9734811 23086 E9PIT1;E9PPH6;F5GXG5;Q149M6;Q8NEV8 AB014524;ABBA01039864;ABBA01039865;AI203086;AK025008;AK303993;AK304212;AL050204;AMYH02025552;AMYH02025553;AMYH02025554;AP000871;AP002453;AP005718;AY099469;BC026281;BC031034;BC113119;BC117701;BP358360;CH471065;CR627226;DC415184;DC416995;KF455497;NM_015065;XM_005271461;XM_005271462;XM_005271463 AAI13120;AAI17702;AAM44402;BAA31599;BAG64910;BAG65085;CAH10364;EAW67121;NP_055880;Q8NEV8;XP_005271518;XP_005271519;XP_005271520 Hs.28540 1644720;1669427;1706596;1706898;1855742;2146507;2220014;5015879;5015961;5020274;5020881;5022450;5022578;5022651;5037552;5122295 D10S275;D11S1294;D11S2921;D11S4669;D15S1477;D1S1423;D8S2279;GDB:314949;L17709;L18441;SHGC-52610;SHGC-80937;SHGC-82695;SLAC2-B__5426;STS-N32319;STS-T89299 DKFZp586F1223;DKFZp781H0795;KIAA0624;MGC133291;MGC134967;SLAC2-B;SLAC2B OTTHUMP00000233304;OTTHUMP00000233305;OTTHUMP00000233306;OTTHUMP00000238459;exophilin-5;slp homolog lacking C2 domains b;synaptotagmin-like homologue lacking C2 domains b;synaptotagmin-like protein homolog lacking C2 domains b protein-coding ENSG00000110723 HGNC:30578 08341 612878;615028 VALIDATED 1353323 EXT3 exostoses (multiple) 3 ASSOCIATED WITH Exostoses, Multiple, Type III (inferred) 7240710 8081357 2133 HGNC:3514 600209 1320385 EXOSC6 exosome component 6 This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to the yeast Mtr3 protein. Its exact function is not known, however, it has been shown using a cell-free RNA decay system that the exosome is required for rapid degradation of unstable mRNAs containing AU-rich elements (AREs), but not for poly(A) shortening. The exosome does not recognize ARE-containing mRNAs on its own, but requires ARE-binding proteins that could interact with the exosome and recruit it to unstable mRNAs, thereby promoting their rapid degradation. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 55242340 55244039 + 70284134 70285833 - 70250231 70251930 - 6480464 11110791;11719186;11812149;11967169;12419256;12477932;12788944;14702039;15231747;17174896;18289715;19322201;20531386;20531389;21139048;21145461;21255825;21906983;21907836;22939629;23443559;24250222 118460 Q5RKV6 ABBA01010673;AC009060;AK024276;AK095542;AMYH02032294;BC052252;CH471241;NM_058219 AAH52252;EAW51841;NP_478126;Q5RKV6 Hs.660633;Hs.744085 1777544;2132308;2218170;5020229;5020948;5020985;5024039;5037552;5109281;5113621 A002L29;AARS__4231;D16S2972;D16S325;D1S1425;D8S2279;G35510;L17770;REU1902;RH15631 EAP4;MTR3;Mtr3p;hMtr3;hMtr3p;p11 Mtr3 (mRNA transport regulator 3)-homolog;OTTHUMP00000174902;exosome complex component MTR3;exosome complex exonuclease MTR3;homolog of yeast mRNA transport regulator 3;mRNA transport regulator 3 homolog APPROVED protein-coding HGNC:19055 12107 606490 REVIEWED 1317052 EXT2 exostosin glycosyltransferase 2 This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p12-p11 44264389 44414268 + 44117099 44266980 + 44095549 44245430 + 1580863;6480464;6907045;7240710;8554872;8699517 10429361;10480354;10545594;10639137;10679296;10679937;10738008;10878610;11169766;11170095;11391482;11432960;11668521;12477932;12907669;12907685;14654969;15489334;15586175;15796962;16088908;16283885;16344560;16638657;17293876;17301954;17353931;17589361;17676624;17761672;17786204;17928989;18210030;18294062;18373409;18544707;18597214;18633108;18666861;19008344;19179614;19199708;19309273;19336475;19344451;19380854;19453261;19839753;19913121;19933996;19946888;20140877;20301413;20379614;20418910;20571754;20580033;20628086;20813973;20872591;20879858;21039224;21499719;21510814;21703028;21890473;21900206;21906983;21963094;21987572;21988832;22040554;22505724;22820392;23052945;23262345;23439489;23450490;23629877;23871501;24120389;24250222;7668264;8162019;8782816;8894688;9110175;9326317;9463333;9576285;9620772;9756849 2132 E9PJA5;E9PNL9;Q93063 ABBA01060770;ABBA01060771;AC068457;AC103854;AC134775;AK296713;AK309459;AK312375;AMYH02024683;BC010058;BC013050;BC068545;BE348865;BM997250;BX648142;CH471064;DA738392;KF455377;NG_007560;NM_000401;NM_001178083;NM_207122;U62740;U64511;U67354;U67355;U67368;U72263 AAB07008;AAB62718;AAC50764;AAC51219;AAH10058;AAH68545;ADZ15532;BAG35293;BAH12417;EAW68067;EAW68068;EAW68069;EAW68070;EAW68071;NP_000392;NP_001171554;NP_997005;Q93063 Hs.368404 1334892;1658441;1661165;1668025;1671161;1677118;1716355;1738173;1766485;2136354;2151568;2152070;2165128;7186285 D11S2263E;D11S3805;D11S3975;D11S4650;D11S903;GDB:313855;HSC1YH092;RH121355;RH45722;RH98305;SHGC-149810;STS-N22755;WI-20248 SOTV N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase;OTTHUMP00000233074;OTTHUMP00000233077;OTTHUMP00000233078;exostosin 2;exostosin-2;glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase;multiple exostoses protein 2;putative tumor suppressor protein EXT2 APPROVED protein-coding ENSG00000151348 HGNC:3513 00599 133701;608210 REVIEWED 1319981 EXTL1 exostosin-like glycosyltransferase 1 This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008] 1 1 1 p36.1 24744947 24759633 + 26348266 26362955 + 26021775 26036464 + 1580863;6480464;6907045 10480354;10575224;11390981;12417417;12477932;15110891;15489334;16344560;16710414;17474147;21988832;9037597 2134 Q92935 ABBA01034895;AF083633;AF153980;AL391650;AMYH02000551;BC065528;CH471059;DA182373;NM_004455;R67266;U67191;XM_005245779;XM_006710447;XM_006710448 AAC51141;AAD02840;AAF73172;AAH65528;EAX07851;NP_004446;Q92935;XP_005245836;XP_006710510;XP_006710511 Hs.150956 1680803;1777360;1858283;2108075 EXTL1_8336;RH66544;SHGC-74403;STS-R37350 EXTL;MGC70794 OTTHUMP00000008700;alpha-N-acetylglucosaminyltransferase II;exostoses (multiple)-like 1;exostosin-L;exostosin-like 1;glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase;glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase;glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase;multiple exostosis-like protein APPROVED protein-coding ENSG00000158008 HGNC:3515 03441 601738 REVIEWED 1348647 EXTL2P1 exostoses (multiple)-like 2 pseudogene 1 2 2 2 q31.1 170313801 170314205 + 176707626 176708030 + 175842898 175843302 + 21130836;9450183 100287682 ABBA01062211;AC016751;AMYH02005296;NG_016787 1685293 RH79824 EXTL2P APPROVED pseudo HGNC:3517 INFERRED 1317344 EXOSC9 exosome component 9 This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 4 4 4 q27 120108304 120123992 + 122722445 122738176 + 121801290 121817021 + 1580863;6480464 10465791;11110791;11719186;11782436;11812149;11879549;12419256;12477932;12788944;14667819;14872500;15231747;15635413;16455498;16730941;17081983;17174896;17545563;19394292;19471022;2007859;20531386;20531389;20936779;21139048;21145461;21252943;21255825;21693764;21906983;22113938;22505724;22939629;23537643;24816145 5393 B4DXG8;D6R905;D6RA17;D6RAP4;D6RIY6;H0Y9L5;Q06265 ABBA01044731;AC079341;AJ505989;AJ517294;AK301967;AK307548;AK310894;AMYH02010013;BC012371;BC142978;BU615347;BX649106;CH471056;M58460;NG_029848;NM_001034194;NM_005033;U09215;XR_427545 AAA18832;AAA58384;AAI40039;AAI40040;AAI42979;AAY40968;BAG63380;CAD44530;CAD56889;EAX05247;EAX05248;EAX05249;EAX05250;EAX05251;EAX05252;NP_001029366;NP_005024;Q06265 Hs.91728 1652185;1655983;2172869 SHGC-24740;SHGC-59677;STS-N26050 PM/Scl-75;PMSCL1;RRP45;Rrp45p;p5;p6 OTTHUMP00000158989;OTTHUMP00000218281;OTTHUMP00000218283;P75 polymyositis-scleroderma overlap syndrome associated autoantigen;P75 polymyositis-scleroderma overlap syndrome-associated autoantigen;PMSCL autoantigen, 75kD;autoantigen PM/Scl 1;exosome complex component RRP45;exosome complex exonuclease RRP45;polymyositis/scleroderma autoantigen 1;polymyositis/scleroderma autoantigen 1 (75kD);polymyositis/scleroderma autoantigen 1, 75kDa;polymyositis/scleroderma autoantigen 75 kDa APPROVED protein-coding ENSG00000123737 HGNC:9137 07315 606180 REVIEWED 1320266 EXOSC7 exosome component 7 ENCODES a protein that exhibits 3'-5'-exoribonuclease activity (inferred); RNA binding (inferred); INVOLVED IN exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (inferred); gene expression (inferred); mRNA metabolic process (inferred); FOUND IN exosome (RNase complex); INTERACTS WITH all-trans-retinoic acid; atrazine; methyl methanesulfonate 3 3 3 p21.31 44955701 44992110 + 45017741 45054160 + 44976249 45012668 + 1580863;6480464 11110791;11719186;11790298;11812149;11849973;11879549;12419256;12477932;12788944;14702039;15231747;15489334;15635413;16189514;17174896;18781797;20531386;20531389;21139048;21255825;21509594;21832049;21890473;21963094;22174317;22505724;22939629;23443559;24163370;24332808;24816145;7788527 23016 B2RDZ9;Q15024 ABBA01024735;AC104165;AK090511;AK130053;AK295779;AK315741;AMYH02006652;AMYH02006653;BC012831;BU153856;CH471055;D29958;NM_015004;NR_023353;XM_006713035;XR_245104 AAH12831;BAA06226;BAG38096;BAG58602;EAW64731;EAW64732;EAW64733;EAW64734;NP_055819;Q15024;XP_006713098 Hs.719958 2112564;2112662;2143138;2155807;2155809;5014722;5021496;5096702 A005N25;D3S2978;D3S4208;D3S4422;D3S4426;G20351;RH25340;WI-22458 EAP1;FLJ26543;KIAA0116;RRP42;Rrp42p;hRrp42p;p8 OTTHUMP00000164126;exosome complex component RRP42;exosome complex exonuclease RRP42;ribosomal RNA-processing protein 42 protein-coding ENSG00000075914 HGNC:28112 09401 606488 VALIDATED 735783 EXTL3 exostosin-like glycosyltransferase 3 This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012] 8 8 8 p21 27519006 27571052 + 28558990 28611207 + 28701473 28753690 + 1580863;6480464;6907045;8554872 10427123;10536173;10639137;10753861;11257457;11390981;12021770;12477932;15489334;15580265;17474147;17761672;18543267;19158046;19653241;19690583;20377530;20936779;22158612;22727489;9473480;9479495;9628581 2137 E5RIV6;E5RK02;E7ET85;H0YB01;H0YBJ7;O43909 AB007042;AB011091;ABBA01005608;AC131969;AF001690;AF029231;AF083551;AK124619;AK294475;AMYH02017691;AW105691;BC006363;BI911162;BT007353;CH471080;CR749646;DA222815;DA757362;NM_001440;NR_073468;NR_073469;U76188;U96629;XM_006716302 AAB67602;AAB93670;AAC39598;AAD01877;AAD42041;AAH06363;AAP36017;ABM81624;ABM84809;BAA24080;BAA25445;BAG57702;CAH18440;EAW63507;EAW63508;EAW63509;NP_001431;O43909;XP_006716365 Hs.491354;Hs.744019 1653736;1655043;1716601;1735788;1753215;2147798;2180347;5037552 A002S41;D8S1402E;D8S1403E;D8S2279;RH121646;RH15942;SHGC-110015;STS-M79217 BOTV;DKFZp686C2342;EXTL1L;EXTR1;KIAA0519;REG;REGR;RPR EXT-related 1;EXT-related protein 1;OTTHUMP00000128339;OTTHUMP00000225624;exostoses (multiple)-like 3;exostosin tumor-like 3;exostosin-like 3;glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase;hereditary multiple exostoses gene isolog;multiple exostosis-like protein 3;putative tumor suppressor protein EXTL3;reg receptor APPROVED protein-coding ENSG00000012232 HGNC:3518 09306 605744 REVIEWED 1314633 EXOSC8 exosome component 8 This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009] 13 13 13 q13.1 18641920 18650994 + 37574678 37583751 + 37000373 37009614 + 1580863;6480464 11158571;11719186;11812149;11929972;12419256;12477932;12788944;14702039;15231747;15489334;15635413;16196087;16912217;17174896;17545563;20531386;20531389;21139048;21255825;22939629;22990118;23000965;23314748;23349634;23443559;23844004;24332808;24722188;24816145;7604013;8889548;9466265 11340 H7C581;H7C5Z2;Q96B26 ABBA01021346;AF025438;AF279901;AK096810;AK126602;AL050353;AL138706;AMYH02027874;BC020773;BM697343;BU687776;CH471075;NM_181503;XM_006719763;XR_429212 AAC39558;AAH20773;ABM84060;ABM87413;CAI46226;EAX08579;EAX08580;EAX08581;NP_852480;Q96B26;XP_006719826 Hs.294041 1670984;2162471;2162473;2167754;5017751;5118444 A001V34;D11S3316;EXOSC8;G19693;RH11262;RH44456 CIP3;EAP2;OIP-2;OIP2;RP11-421P11.3;RRP43;Rrp43p;bA421P11.3;p9 CBP-interacting protein 3;OTTHUMP00000018264;Opa interacting protein 2;exosome complex component RRP43;exosome complex exonuclease RRP43;opa-interacting protein 2;ribosomal RNA-processing protein 43 APPROVED protein-coding ENSG00000120699 HGNC:17035 09351 606019 REVIEWED 1317015 EXTL2 exostosin-like glycosyltransferase 2 ENCODES a protein that exhibits alpha-1,4-N-acetylgalactosaminyltransferase activity; glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; INVOLVED IN N-acetylglucosamine metabolic process; UDP-N-acetylgalactosamine metabolic process; PARTICIPATES IN heparan sulfate biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; aflatoxin B1; all-trans-retinoic acid 1 1 1 p21 99599599 99622103 - 101337928 101361548 - 100872372 100895179 - 1580863;6480464;6907045;8554872 10318803;10639137;12477932;14702039;15342556;15831490;16344560;19690583;21833088;23395820;8889548;9450183;9473480 2135 C9IYF5;C9JEG3;F5GZK1;Q8N8F1;Q9UBQ6 AB009284;ABBA01045434;AC104506;AF000416;AK001450;AK096914;AK298124;AK312895;AMYH02001561;AU130571;BC014910;BC036015;BC045681;BP202626;BU689972;BX103291;CH471097;NM_001033025;NM_001261440;NM_001261441;NM_001261442;NM_001439;NR_048570;U76189;XM_005270621;XM_005270622 AAB93669;AAC02898;AAH14910;AAH36015;AAH45681;BAA24081;BAC04893;BAG35742;BAG60404;EAW72946;EAW72947;EAW72948;NP_001028197;NP_001248369;NP_001248370;NP_001248371;NP_001430;Q9UBQ6;XP_005270678;XP_005270679 Hs.357637 1658310;1685293;1690546 RH79824;RH93815;WI-20606 EXTR2 EXT-related protein 2;OTTHUMP00000013586;OTTHUMP00000013587;OTTHUMP00000013589;alpha-1,4-N-acetylhexosaminyltransferase EXTL2;alpha-1,4-N-acteylhexosaminyltransferase;alpha-GalNAcT EXTL2;exostoses (multiple)-like 2;exostosin-like 2;glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase;processed exostosin-like 2 APPROVED protein-coding ENSG00000162694 HGNC:3516 03876 602411 VALIDATED 1601799 EXTL3-AS1 EXTL3 antisense RNA 1 8 8 p21.1 28555920 28558981 - 28698403 28701464 - 12477932 101929402 ABBA01005608;AC131969;AMYH02017691;BC043205;BC118569;HG501003;NR_126027;XR_247150;XR_250334;XR_252396 Hs.667366 5015619;5022450;5024761;5117897 D10S275;D11S3114;GDB:631813;RH36905 C8orf50 APPROVED ncrna ENSG00000246339 HGNC:27985 VALIDATED 1350666 EYCL3 eye color 3 (brown) ASSOCIATED WITH Oculocutaneous albinism type 2 (inferred) 7240710 8875191 2144 HGNC:3525 203200;227220 1343253 EYCL1 eye color 1 (green/blue) 3568446 2141 HGNC:3523 1350703 EYA2 EYA transcriptional coactivator and phosphatase 2 This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009] 20 20 20 q13.1 42236954 42531188 + 45523263 45817492 + 46894624 47188844 + 1580863;6480464;8554872 10490620;10906137;11780052;12039049;12477932;12500905;14702039;15489334;15705892;16189514;18029348;19351884;19414679;19497856;19858093;19913121;19950702;20201926;20379614;20628086;21706047;22589738;22607316;22678362;22987659;23400010;23435380;24196439;24508260;8619474;9020840;9049631;9110174;9195991;9887327 2139 B1AKW3;E7ETN2;O00167 ABBA01052687;ABBA01052688;ABBA01052689;ABBA01052690;ABBA01052691;AF055015;AF387364;AF455147;AF455148;AF455149;AF455150;AJ007992;AK093582;AK293032;AL049540;AL121776;AL354766;AL359434;AMYH02037162;AMYH02037163;AMYH02037164;AMYH02037165;AMYH02037166;AY705349;BC000289;BC008803;BC013882;BT006682;CH471077;KF456925;KF456926;NG_011673;NM_005244;NM_172110;U71207;U81601;XM_005260327;Y10261 AAB42065;AAB51120;AAC09362;AAH00289;AAH08803;AAH13882;AAK62466;AAK62467;AAL57874;AAL57875;AAL57876;AAL57877;AAL57878;AAP35328;AAU11525;ADZ15506;BAF85721;CAA07815;CAA71310;CAI23166;EAW75720;EAW75721;EAW75722;NP_005235;NP_742108;O00167;XP_005260384 Hs.472877;Hs.722040;Hs.722415;Hs.722416 1660892;1667151;1667581;1671968;1673220;1678575;1761589;1772788;1853164;2108077;2146238;2147473;2149765;2171739 AL021631;AL021632;D20S1107;D20S791;D20S796;D20S797;D20S817;EYA2_8337;G01530;G05261;RH16187;SHGC-145586;SHGC-8524;WI-14748 EAB1;MGC10614 OTTHUMP00000031666;OTTHUMP00000214835;OTTHUMP00000214836;eyes absent homolog 2 APPROVED protein-coding ENSG00000064655 HGNC:3520 09041 601654 REVIEWED 1320540 EYA3 EYA transcriptional coactivator and phosphatase 3 This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013] 1 1 1 p36 26696435 26810762 - 28296855 28415173 - 27970344 28088661 - 1580863;6480464;8554872;8661242 24002223 10490620;12215533;12477932;14628042;16751776;17286855;19008232;19234442;19351884;19901965;22723308;22971774;24367676;24816145;9020840;9049631;9887327 2140 B1APR7;Q99504 ABBA01035007;ABBA01035008;ABBA01035009;ABBA01035010;AJ007991;AK289805;AK295745;AK298129;AK303664;AL137792;AL512288;AL603098;AMYH02000614;AMYH02000615;AMYH02000616;AMYH02000617;BC029500;BC041667;BQ018346;BX648945;CA434977;CH471059;CR748247;DC416048;DQ426872;DQ576790;NM_001282560;NM_001282561;NM_001282562;NM_001990;NR_104214;U81602;XM_006710449;XM_006710450;Y10262 AAB42066;AAH29500;AAH41667;ABZ92386;BAF82494;BAG58579;BAG60409;BAG64663;CAA07814;CAA71311;EAX07713;EAX07714;NP_001269489;NP_001269490;NP_001269491;NP_001981;Q99504;XP_006710512;XP_006710513 Hs.185774 2125029;2152616;2158369;2172812;5037552;5093674 A009U41;D8S2279;G32857;RH18216;SHGC-74454;SHGC-74514 DKFZp686C132 OTTHUMP00000004013;OTTHUMP00000004014;OTTHUMP00000004015;eyes absent 3;eyes absent homolog 3 APPROVED protein-coding ENSG00000158161 HGNC:3521 09042 601655 REVIEWED 1343004 EYS eyes shut homolog (Drosophila) The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 6 6 6 q12 62590413 64582229 - 64429876 66417118 - 63719980 65707225 - 7240710;8547535;8554872;8699517 23701314 10417302;11181995;12477932;12975309;14574404;18510646;18510647;18836446;18976725;19056867;20237254;20301590;20333770;20375346;20379614;20537394;20696082;21069908;21179430;21519034;21697133;21738389;21826682;22128245;22302105;22363543;22993228;23324950;23382691;23421333;23720494;23934736;24043777;24474277;24479813;24618324;24652164;9585594 346007 F8WDD3;H0Y3Q4;Q5T1H1 AB593112;AB593114;ABBA01023931;ABBA01023932;ABBA01023933;ABBA01023934;ABBA01023935;ABBA01023936;ABBA01023937;ABBA01023938;ABBA01023939;ABBA01023940;ABBA01023941;ABBA01023942;ABBA01023943;ABBA01023944;ABBA01023945;ABBA01023946;ABBA01023947;ABBA01023948;ABBA01023949;ABBA01023950;ABBA01023951;ABBA01023952;ABBA01023953;ABBA01023954;AK310478;AL050329;AL078597;AL109612;AL109922;AL132767;AL133322;AL137007;AL353153;AL353669;AL354719;AL354913;AL355357;AL356454;AL357375;AL365217;AL445677;AL450319;AL450324;AL450394;AL589916;AL590546;AL590784;AL603767;AMYH02013816;AMYH02013817;AMYH02013818;AMYH02013819;AMYH02013820;AMYH02013821;AMYH02013822;AMYH02013823;AMYH02013824;AMYH02013825;AMYH02013826;AMYH02013827;AMYH02013828;AMYH02013829;AMYH02013830;AMYH02013831;AY358133;BC133011;BC133013;BX537914;BX647741;CH471143;FJ416331;FM209056;KF458178;KF458180;KF458182;KF458186;NG_023443;NM_001142800;NM_001142801;NM_001292009;NM_198283 AAI33012;AAI33014;AAQ88500;ACJ37365;BAJ84052;BAJ84054;CAB99359;CAR64275;EAW88497;NP_001136272;NP_001136273;NP_001278938;NP_938024;Q5T1H1 Hs.25067 1337496;1337640;1338117;1341876;1653493;1665682;1665997;1669921;1671073;1673804;1673862;1689536;1700004;1701198;1703852;1704144;1710032;1710812;1714947;1718677;1719111;1720543;1720715;1726863;1726901;1727045;1747933;1748635;1748953;1749001;1749269;1751621;1751631;1753663;1756567;1762703;1763401;1768607;1779618;1779718;1780258;2111438;2139274;2141622;2161389;2183049;2185779;2185977;5015615;5020423;5021564;5115198;5491226 At-8L-277;D11S1053;D11S2442;D11S3076;D6S1026;D6S1053;D6S1483;D6S1644;D6S1670;D6S1781;D6S1927;D6S2095;D6S2168;D6S257;G02278;G10330;G15820;G17024;G17071;G59225;G59329;G62674;G62694;G62921;G66860;GDB:313581;RH103614;RH104227;RH120469;RH123029;RH123273;RH27494;RH35666;RH48018;SHGC-105599;SHGC-105602;SHGC-107529;SHGC-110287;SHGC-110602;SHGC-110641;SHGC-110952;SHGC-143598;SHGC-146498;SHGC-147117;SHGC-153589;SHGC-153692;SHGC-154814;SHGC-79141;SHGC-79767;SHGC-82290;SHGC-84150;STS-AA020982;WI-4212 C6orf178;C6orf179;C6orf180;EGFL10;EGFL11;KIAA0663;RP25;SPAM;bA166P24.2;bA307F22.3;bA74E24.1;dJ1018A4.2;dJ22I17.2;dJ303F19.1 EGF-like protein 10;EGF-like protein 11;EGF-like-domain, multiple 10;EGF-like-domain, multiple 11;OTTHUMP00000016688;OTTHUMP00000179129;OTTHUMP00000213100;OTTHUMP00000217891;epidermal growth factor-like protein 10;epidermal growth factor-like protein 11;notch-like;protein eyes shut homolog;protein spacemaker homolog;spacemaker APPROVED protein-coding ENSG00000188107 HGNC:21555 16853 602772;612424 REVIEWED 1317054 EYA1 EYA transcriptional coactivator and phosphatase 1 This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013] 8 8 8 q13.3 68106627 68271433 - 72109668 72459888 - 71197433 71547649 - 1598917;1580863;6480464;7240710;8554897;8554880;8554873;8554872;8694159;8699517;8661242 16491411;17637804;23107834;24002223;24528972;9361030 10464653;10490620;10655545;10991693;11409867;11558900;11683347;11734542;11950062;12070080;12404110;12477932;12500905;12701758;12874121;15141091;15226428;15489334;15492887;15493068;16005355;16344560;16441263;16691597;16797546;17049623;17903308;18065799;18220287;19206155;19213029;19234442;19240061;19497856;19667416;19789318;20209935;20301554;20634891;20956555;20979191;21280147;2154751;21955869;22447252;23144326;23263983;23506628;23601008;23636126;23793025;23840632;24752894;7829101;8889548;9020840;9359046;9428512;9603436;9853969 2138 A6NCB9;B3KXR1;E5RHZ7;E5RIQ7;E7EQM5;F8WB53;Q0P517;Q99502 ABBA01041946;AC016465;AC022858;AC099805;AF467247;AJ000097;AJ000098;AJ786168;AJ786169;AK127798;AK295897;AK307379;AMYH02018186;AMYH02018187;AMYH02018188;BC121798;BC121799;BI497179;BQ223588;BU679404;CH471068;DA618315;DA746489;DB004805;DC360066;DC409057;NG_011735;NM_000503;NM_001288574;NM_001288575;NM_172058;NM_172059;NM_172060;XM_005251182;XM_005251184;XM_006716435;XM_006716436;XM_006716437;Y10260 AAI21799;AAI21800;AAL73437;BAG54573;BAG58690;CAA03922;CAA03923;CAA71309;CAH05072;CAH05073;EAW86973;EAW86974;EAW86975;EAW86976;EAW86977;EAW86978;EAW86979;EAW86980;NP_000494;NP_001275503;NP_001275504;NP_742055;NP_742056;NP_742057;Q99502;XP_005251239;XP_005251241;XP_006716498;XP_006716499;XP_006716500 Hs.491997 1690338;1726325;1752395;2107067 EYA1__7613;G62463;RH94070;SHGC-106306 BOP;BOR;BOS1;MGC141875;OFC1 OTTHUMP00000195053;OTTHUMP00000195054;OTTHUMP00000195055;OTTHUMP00000195106;OTTHUMP00000195107;OTTHUMP00000195108;eyes absent homolog 1 APPROVED protein-coding ENSG00000104313 HGNC:3519 03388 113650;166780;601653;602588 REVIEWED 5131322 EZH2P1 enhancer of zeste homolog 2 (Drosophila) pseudogene 1 21 21 21 q22.2 22171376 22171952 + 36971977 36972553 + 35599679 35600255 + 10780782;10830953;8954776 266693 ABBA01057373;AF015726;AMYH02037765;NG_002373;NG_011402 1730894 D21S17 pseudo HGNC:39918 INFERRED 7242889 EZR-AS1 EZR antisense RNA 1 6 6 q25.3 159239011 159243271 + 158817979 158822239 + 101409257 ABBA01021078;ABBA01021079;AI831881;AL589931;AMYH02014858;BE552153;BX119561;HG499829;NR_102425 Hs.571207 RP11-507C10.5 ncrna HGNC:40609 VALIDATED 1316090 EYA4 EYA transcriptional coactivator and phosphatase 4 This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] 6 6 6 q23 134303566 134594492 + 133561512 133853258 + 133241357 133532120 + 1598455;1580863;6480464;7240710;8699517;8554872 15735644 10769282;11159937;12477932;12477971;14574404;15489334;15492887;16344560;16964243;17567890;17568404;18219393;18464913;19606496;19901965;19939248;20301486;20301607;20379614;21061259;22566498;22589738;23862763;23867875;8776603;9887327 2070 E7ESD5;E9PLN6;F2Z2Y1;O95677;Q96CJ7 ABBA01025870;ABBA01025871;ABBA01025872;ABBA01025873;AJ007993;AJ007994;AK295798;AK299378;AK301950;AL024497;AL121959;AL356242;AL450270;AMYH02014510;AMYH02014511;AMYH02014512;AMYH02014513;AW613879;BC014193;BC030588;BC041063;BX490250;CH471051;DA760903;KF458286;KF458290;NG_011596;NM_001301012;NM_001301013;NM_004100;NM_172103;NM_172105;XM_005266850;XM_005266851;XM_005266852;XM_005266853;XM_006715373;Y17114;Y17847 AAH14193;AAH41063;ABZ92385;BAG58618;BAG61368;BAH13593;CAA07816;CAA07817;CAA76636;CAA76891;EAW48004;EAW48005;EAW48006;NP_001287941;NP_001287942;NP_004091;NP_742101;NP_742103;O95677;XP_005266907;XP_005266908;XP_005266909;XP_005266910;XP_006715436 Hs.596680 1337954;1655310;1684824;1694176;1695598;1711958;1717477;1770672;1776716;2108765;2177530;5126081;7185316 AL008749;D6S2411;D6S292;D6S975;EYA4__7614;G49694;RH122244;RH16384;RH36228;RH47434;RH91846;SGC35210;SHGC-68688 CMD1J;DFNA10 OTTHUMP00000017235;OTTHUMP00000017236;OTTHUMP00000233943;OTTHUMP00000233944;OTTHUMP00000233945;OTTHUMP00000233946;OTTHUMP00000233947;dJ78N10.1 (eyes absent);eyes absent homolog 4 APPROVED protein-coding ENSG00000112319 HGNC:3522 04648 601316;603550;605362 REVIEWED 1312813 EZH1 enhancer of zeste 1 polycomb repressive complex 2 subunit EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009] 17 17 17 q21.1-q21.3 37507762 37552422 - 40852293 40897095 - 42700275 42745077 - 1580863;6480464;7240710;8554872 12477932;15489334;16565076;18029348;19026780;19026781;20819778;21890473;21906983;22215809;24250222;24457600;7490091;7774924;7774925;7774926;8921387;9205841;9473645;9566901;9584197 2145 K7EIH5;K7EJU6;K7EK26;K7EK66;K7EM79;K7ENP2;K7EPC0;K7ESB9;Q92800 AB002386;AB004818;ABBA01006409;ABBA01006410;ABBA01006411;ABBA01006412;ABBA01006413;ABBA01006414;AC100793;AK295626;AK295853;AK299887;AK304835;AK309121;AK310399;AK310556;AK311237;AL833159;AMYH02033435;AMYH02033436;BC015882;BT009782;CH471152;DC333017;KC877670;L38934;L38938;NM_001991;U50315;XM_005257144;XM_005257145;XM_005257146 AAB59574;AAC50778;AAH15882;AAP88784;BAA20842;BAA25019;BAG58503;BAG58659;BAG61734;BAG65579;EAW60870;EAW60871;NP_001982;Q92800;XP_005257201;XP_005257202;XP_005257203 Hs.194669 1649949;1663140;1754573;1790671;2131701;2135755;2149000;5016675;5022578;5022651 BARC0021;D11S2921;D17S2003;D1S1423;RH70658;RH79740;SHGC-132859;SHGC-53562;STS-Z40888;WI-16114 ENX-2;KIAA0388;KMT6B enhancer of zeste homolog 1;histone-lysine N-methyltransferase EZH1 APPROVED protein-coding ENSG00000108799 HGNC:3526 03397 277590;601674 VALIDATED 7361252 F11-AS1 F11 antisense RNA 1 ASSOCIATED WITH Factor XI Deficiency (inferred); Lung Neoplasms (inferred); Melanoma (inferred) 4 4 4 q35.2 184531616 184741660 - 187207252 187422212 - 186286098 186501058 - 8554872 12477932;16344560;20339536;22703881;22760553 285441 ABBA01070556;ABBA01070557;ABBA01070558;ABBA01070559;ABBA01070560;AC018709;AC109517;AC110761;AC110771;AMYH02010676;AMYH02010677;AMYH02010678;AMYH02010679;AMYH02010680;BC034307;BC038717;BC117432;DB023800;HG497610;HG497611;HG497612;HG497613;KF459878;KF459880;KF459881;KF459882;KF459883;KF459884;KF459886;KF495807;KF495809;NR_033900 Hs.481369 RP11-215A19.1 ncrna ENSG00000251165 HGNC:27725 VALIDATED 1348345 F11R F11 receptor Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008] 1 1 1 q21.2-q21.3 134032809 134058962 - 160965001 160991133 - 160995211 161021343 - 1580863;6480464;7488921;7488916;7488922;7488938;7488939;7488943;7488934;7488940;7488941;7488917;7488915;7488918 15343392;15681301;17007822;17420334;18067551;18506084;19153103;19478094;19533747;21695058;22120722;22868201 10395639;10698320;10753840;10852816;10856295;10877843;11087121;11120739;11171323;11230166;11239401;11256614;11447115;11489913;11689568;11812992;12008956;12174908;12234928;12428104;12477932;12665801;12697893;12750158;12810109;12817473;12953056;12958043;12975309;14519386;14749337;15065765;15340161;15344881;15489334;15677455;15811349;15977176;16189514;16303743;16344560;16418218;16710414;17057644;17452315;17623668;17672918;17822725;18022613;18039951;18096610;18158589;18381425;18514073;18849408;18941231;19079583;19118219;19176753;19199708;19214165;19250634;19322201;19395995;19748485;19913121;20237496;20378847;20627246;20628086;20818426;21139048;21429211;21703019;21890473;21906983;21988832;22549289;22647687;22751120;22886345;22918977;22927233;23110175;23128233;23389628;2351647;23885123;23922698;24065611;24147027;24265754;24300854;24558164;7646439 50848 B7Z5W1;Q6FIB4;Q9Y624 ABBA01016603;ABBA01016604;AF154005;AF172398;AF207907;AF490407;AK026665;AK075152;AK299487;AK304412;AL136649;AL365518;AL591806;AMYH02002029;AY358896;BC001533;BT020103;CH471121;CQ783224;CQ834196;CQ834198;CR533512;DA907460;NM_016946 AAD43794;AAD48877;AAF22829;AAH01533;AAO84556;AAQ89255;AAV38906;ABM83154;ABM86354;ACE86566;ACE87248;BAC11436;BAH13047;BAH14177;CAB66584;CAF86420;CAG38543;CAH05313;CAH05314;EAW52677;EAW52678;EAW52680;EAW52681;EAW52682;EAW52683;NP_058642;Q9Y624 Hs.517293 1652278;1656364;1721663;1795800;2123901;2136112;2153098;5015619;5022450;5024761;5037552 A006O06;D10S275;D11S3114;D1S3269;D1S3328;D8S2279;F11R_1772;G59842;RH18213;RH36905;SGC34299 CD321;JAM;JAM-1;JAM-A;JAM1;JAMA;JCAM;KAT;PAM-1 OTTHUMP00000027879;OTTHUMP00000027880;OTTHUMP00000027881;junctional adhesion molecule 1;junctional adhesion molecule A;platelet F11 receptor;platelet adhesion molecule 1 APPROVED protein-coding ENSG00000158769 HGNC:14685 12038 605721 REVIEWED 1312683 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011] 7 7 7 q35-q36 143174898 143251832 - 148504464 148581441 - 148807372 148884349 - 1580863;6480464;7242554;7240710;8554872;7242632;8699517 22194015;23200123 10581039;10780782;11158321;11342607;11571280;12351676;12374981;12477932;12690205;12853948;14500907;14532106;14610174;14702039;14965441;15077161;15099518;15146197;15208672;15225548;15302935;15385962;15520282;15536069;15684044;15817459;15856046;15882624;16015586;16169070;16179254;16189514;16215315;16224021;16314526;16331887;16357870;16361539;16431907;16489070;16565076;16565220;16575874;16717091;16855786;16963837;16964243;17018586;17081983;17134822;17172412;17237810;17332078;17344414;17453341;17502350;17541304;17545586;17560333;17596871;17640228;17676662;17694325;17804093;17911618;17937919;17996646;18095286;18159594;18269588;18285464;18377425;18385154;18406871;18430739;18453536;18483221;18488029;18502945;18519590;18591938;18623083;18628979;18637271;18713946;18806826;18931660;18980972;19008416;19026780;19026781;19047178;19074885;19079346;19099573;19202064;19258506;19279403;19289832;19340297;19386347;19564843;19578722;19661437;19709408;19723877;19734898;19773751;19893569;19901851;19904743;19934278;19934320;19969553;20015867;20081860;20087897;20123894;20127006;20132185;20174665;20211142;20306127;20369694;20379614;20402834;20467438;20478051;20478527;20479932;20480530;20564407;20569692;20573371;20601953;20601954;20616235;20671031;20684863;20686362;20714105;20724984;20736451;20800574;20858097;20863566;20864510;20920340;20935635;20946108;20952513;21078963;21087793;21115743;21116854;21123648;21125401;21131960;21135039;21139048;21143197;21151833;21151932;21165554;21190999;21199804;21205084;21215703;21216957;21228036;21232178;21233829;21289264;21292308;21297974;21307773;21321380;21325804;21339190;21339759;21367748;21368858;21378168;21383005;21396836;21399615;21399658;21406404;21455215;21499305;21512140;21513699;21515604;21532618;21539681;21546904;21572997;21609503;21614565;21614903;21629038;21659531;21685935;21690062;21697275;21703114;21713757;21715480;21719208;21761357;21765901;21769904;21828135;21837672;21856302;21865393;21884980;21890473;21892211;21900206;21903722;21906983;21914347;21921040;21921784;21926398;21932133;21941025;21989926;22009739;22068036;22094255;22094256;22161744;22177091;22187039;22190405;22194861;22211105;22215809;22222375;22228224;22235851;22237151;22266912;22272343;22287205;22308284;22315224;22323599;22330138;22349693;22370893;22383679;22431509;22436627;22439931;22442719;22450781;22465358;22469510;22505648;22505724;22527102;22544210;22552406;22563434;22588437;22593192;22609199;22659877;22675170;22677129;22696229;22705924;22766277;22766604;22800347;22809481;22850114;22855181;22867052;22869879;22871469;22897849;22914328;22930729;22939629;22948084;22956625;22972404;22986524;22992977;22994729;23001607;23063525;23077658;23079660;23095338;23099237;23116973;23121604;23135913;23159737;23163606;23190500;23228130;23239736;23283488;23289480;23291714;23294722;23300840;23343715;23354591;23361872;23395645;23421437;23424038;23438432;23455924;23486531;23523787;23526793;23529930;23538750;23539298;23557329;23562851;23592277;23603558;23613835;23624935;23636686;23636867;23677067;23684459;23688634;23707559;23759589;23759596;23792601;23815091;23857401;23865096;23874688;23887863;23893242;23907130;23918806;23948956;23949225;23962556;23967231;24018208;24032713;24040354;24052547;24055345;24074410;24077223;24079712;24079759;24097338;24097870;24107828;24122997;24123378;24132606;24132643;24139839;24212330;24214728;24218139;24250222;24266940;24320048;24339737;24344012;24351808;24389103;24406044;24424512;24429498;24446035;24457600;24469040;24474760;24487593;24488618;24501407;24516139;24588771;24608043;24612037;24652950;24671995;24705718;24738879;24771265;24804542;24903147;25017995;8649418;8889548;8921387;8954776;9214638;9499421;9584197;9584199;9742080 2146 B7Z8L6;E9PDH6;G3XAL2;Q15910;S4S3R8 A58329;AACC02000041;AB208895;ABBA01033596;ABBA01033597;ABBA01033598;ABBA01033599;AC006323;AC073140;AK092676;AK293239;AK302216;AK303585;AK303637;AK314291;AMYH02017030;AY519465;BC010858;BG829016;BM974565;BU953788;CH471146;CN283479;JF327843;JF939048;NG_032043;NM_001203247;NM_001203248;NM_001203249;NM_004456;NM_152998;U52965;U61145;X95653;XM_005249962;XM_005249963;XM_005249964;XM_006715883;XM_006715884;XM_006715885;XM_006715886;XM_006715887 AAC50591;AAC51520;AAH10858;AAS02035;AAS02036;AAS07448;AAS09975;ABM85105;AEA07595;AEN79481;BAD92132;BAG36948;BAG52592;BAH11472;BAH13652;BAH13991;BAH14002;CAA03482;CAA64955;EAL24423;EAL24424;EAW80067;EAW80068;EAW80069;EAW80070;NP_001190176;NP_001190177;NP_001190178;NP_004447;NP_694543;Q15910;XP_005250019;XP_005250020;XP_005250021;XP_006715946;XP_006715947;XP_006715948;XP_006715949;XP_006715950 Hs.444082;Hs.732308 1339951;1713489;1719543;1759199;2109295;7185271 D7S688;EZH2_7791;RH120228;RH123504;SHGC-132531 ENX-1;ENX1;EZH1;EZH2b;KMT6;KMT6A;MGC9169;WVS;WVS2 OTTHUMP00000213774;OTTHUMP00000213776;OTTHUMP00000213778;OTTHUMP00000213779;OTTHUMP00000213780;OTTHUMP00000214051;enhancer of zeste 2;enhancer of zeste homolog 2;histone-lysine N-methyltransferase EZH2;lysine N-methyltransferase 6 APPROVED protein-coding ENSG00000106462 HGNC:3527 03342 277590;601573 REVIEWED 1319673 F11 coagulation factor XI This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008] 4 4 4 q35 184511477 184537546 + 187187099 187210835 + 186265945 186289681 + 1598923;1580863;2290183;6480464;6907045;7240710;8554872;8699517 10048754;2813350 10027710;10391209;10494760;10552949;10606881;10823824;10962009;11412111;11733491;11891231;11895778;12029092;12167623;12372819;12477932;12496253;12871398;12944405;14521591;14521595;14629467;14717969;15072993;15090552;15182578;15226185;15317813;15375170;15456479;15456480;15456490;1547342;15489334;15545266;15634276;15815621;15842381;15870541;15996948;16042419;16079124;16085935;16204896;16330457;16335952;16344560;1652157;16613788;1673289;16835901;16878977;17229051;17257616;17284699;17549289;17581330;17597996;1762944;17652512;17768109;18005151;18020374;18024374;18186617;18192270;18217146;18268095;18327400;18387979;18388506;18441012;18515884;18612554;18832909;18839438;19056867;19351955;1952475;19583818;19617576;19652879;19661487;19682239;19718484;19913121;1998667;20015217;20042724;20110423;20128871;2019570;20308231;20339536;20352152;20456758;20491955;2052060;20523169;20589316;20628086;20727068;20961395;21057700;21192253;21236471;21527525;21649796;21668437;21718436;21820158;21980494;21999818;22159456;22207756;22322133;22505407;22633531;22703881;22704541;22961984;23305485;23332144;23494098;23515926;23571684;23617568;23650146;23659638;23929304;24086496;24112640;2551064;2827746;2844223;291905;3636155;3936495;6626744;7044446;7669672;7888672;8555184;8703832;89876;9242536;9401068;9593722;9787168 2160 D6RB32;E9PGP2;H0Y596;P03951;X6R3B1 AB004057;ABBA01070555;ABBA01070556;ABBA01070557;AC110771;AF045649;AK313195;AMYH02010676;AY191837;BC020617;BC029374;BC119014;BC122863;CH471056;DA630863;M13142;M18295;M20218;NG_008051;NM_000128;XM_005262821;XM_005262822;XM_005262823;XM_005262824;XM_005262825;XM_006714137 AAA51985;AAA52487;AAC24506;AAI19015;AAI22864;AAN85554;AAY40901;BAA20295;EAX04619;EAX04620;EAX04621;NP_000119;P03951;XP_005262878;XP_005262879;XP_005262880;XP_005262881;XP_005262882;XP_006714200 Hs.1430 1664721;1670009;1723087;1740951;1741929;1776063;1853840;2122663;2126535;2154496;2158989 D4S3173;G34291;GDB:176411;GDB:186858;RH121982;SHGC-59543;SHGC-67651;SHGC4-1037;SHGC4-1528;SHGC4-289;STS-M13142 FXI;MGC141891;PTA OTTHUMP00000197033;OTTHUMP00000218130;plasma thromboplastin antecedent APPROVED protein-coding HGNC:3529 07524 264900;612416 REVIEWED 1350208 EZR ezrin The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q25.3 159834789 159888323 - 159186773 159240456 - 158765741 158819424 - 1580863;6480464;6484113;6907045;7207465;2312475 14715913;21777186 10036239;10377409;10462524;10704377;10713718;10733515;10793131;10799517;10806479;10893422;10955717;10970850;11013215;11285285;11387207;11438984;11468295;1159819;11598191;11684085;11706008;11726633;11784723;12032545;12070130;12080047;12082080;12082081;12111362;12154370;12271120;12360288;12370738;12385025;12387735;12429733;12477932;12560083;12626536;12651155;12711360;12734202;12769842;12800220;12808036;12860416;1381389;1382070;14574404;14625392;14676203;14704789;14704791;14739941;14981079;15020681;15096511;15149851;15178693;15252013;15489334;15498789;15531580;15623525;15647376;15659383;15677456;15729356;15751968;15797715;15818415;15835821;15843435;16009940;16129695;16144921;16230228;16344560;16352594;16438931;16502470;16538541;16554733;16633060;16648854;16677779;16737952;16867268;16873375;16889625;17028919;17159908;17237445;17349711;17353931;17370040;17370041;17515952;17525629;17538024;17616675;1762625;17659733;17726647;17786474;17825285;17881735;17886294;17891137;17911601;18029348;18046454;18078820;18155831;18203644;18246799;18270268;18295815;18305045;18425081;18459457;18486367;18508927;18523284;18545143;18552365;18676680;18682798;18701134;18725408;18781797;18788632;18840437;18852256;18926620;18941185;18997619;19050913;19060919;19066282;19080005;19084535;19088174;19124745;19129194;19152423;19164283;19165868;19170196;19190083;19234486;1924289;19255442;19322201;19331807;19366061;19386264;19399936;19550117;19556366;19575999;19591839;19597468;19604375;19615732;19625176;19639585;19648886;19654214;19692168;19738201;19786985;19799816;19830727;19890007;19913121;19935704;19946888;20010876;20036004;20128822;20156804;20193117;20195357;20237154;20335315;20348881;20360068;20363977;20379614;20395446;20434207;20501702;20551903;20552365;20558337;20562647;20569470;20585869;20628086;20628624;20679347;20701102;20711218;20811677;20855527;20859706;20871163;20872967;20873751;21139048;21171946;21176563;21183682;21190723;21278069;21278261;21282464;21282970;21340023;21352885;21363921;21412073;21416469;21444753;21465252;21540295;21550270;21585339;21625943;21628504;21659656;21672629;21693764;21712385;21717114;21751142;21780101;21789023;21818323;21837648;21849257;21864676;21868260;21873785;21874375;21878630;21890473;21899702;21906983;21909685;21915031;21963094;21971708;21987572;21988832;22053931;22132106;22137559;22172411;22177047;22192140;22199327;22228328;22230495;22234584;22268729;22291017;22360420;22415480;22476538;22505724;22528947;22544491;22577345;22628548;22629406;22685202;22751105;22843905;22846990;22863883;22869145;22891241;22898813;22922800;22927432;22939629;22964850;22967445;23000965;23017497;23031255;23039327;23067217;23098471;23116763;23166591;23185364;23209304;23209815;23214316;23324233;23325686;23326330;23394223;23420497;23422152;23435957;23465281;23602568;23614908;23629860;23703860;23708420;23752190;23766411;23824909;23882136;23894313;23900701;23959472;24014052;24086451;24129929;24151071;24182314;24303922;24346284;24352761;24398676;24500715;24599913;24654937;24662291;24788249;24816145;24885195;24924175;25015289;2591371;2592436;2674140;7579708;7844168;7876308;8089177;8162705;8248180;8713105;8892894;9009265;9213396;9287351;9314537;9501018;9616160;9705328;9748260;9852149;9921900;9928947 7430 E7EQR4;P15311 ABBA01021079;ABBA01021080;AF187552;AF188896;AF188897;AF189213;AF190059;AF199015;AI366687;AK129727;AK296738;AK299456;AK312597;AK316031;AL162086;AL589931;AMYH02014856;AMYH02014857;AMYH02014858;BC013903;BC068458;CH471051;DA754543;DA783190;FJ224318;J05021;NM_001111077;NM_003379;X51521;XM_006715561 AAA61278;AAD56713;AAF03154;AAF03155;AAF03156;AAF03158;AAF09502;AAH13903;AAH68458;ABM83680;ABM86977;ACI46010;BAG35489;BAH12423;BAH13038;BAH14402;CAA35893;CAB82418;EAW47646;EAW47647;NP_001104547;NP_003370;P15311;XP_006715624 Hs.487027 1336472;1672170;1675573;1680769;1766031;2116395;2156228;5105771 D15S1323;D6S1614;RH27492;RH46601;RH91385;SHGC-146276;SHGC-149418;SHGC-30156 CVIL;CVL;DKFZp762H157;FLJ26216;HEL-S-105;MGC1584;VIL2;p81 OTTHUMP00000017506;OTTHUMP00000017507;cytovillin 2;epididymis secretory protein Li 105;villin 2 (ezrin);villin-2 APPROVED protein-coding ENSG00000092820 HGNC:12691 00475 123900 REVIEWED 1344690 F13A3 coagulation factor XIII, A3 polypeptide 2164 HGNC:3533 1349196 F13A2 coagulation factor XIII, A2 polypeptide 2163 HGNC:3532 1345372 F12 coagulation factor XII (Hageman factor) This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 171664877 171672315 + 176829139 176836577 - 177402138 177409576 - 1601106;1580863;1601107;2290183;2312416;6480464;6907045;7240710;7401223;8554872;8699517 10048754;16177542;16638441;2510163;7974333 10361128;10801853;10930399;11204562;11248286;11589915;11776307;11792853;11805911;11821096;11843842;12052484;12208481;12477932;12492481;12876626;14597972;14718574;14760718;15000805;15116249;15205584;15232129;15257949;15306750;1544894;15567455;15617741;15748262;15749685;16015420;16157382;16167952;16170239;16199891;16335952;16411408;16493494;17139385;17143557;17186468;17408404;17605651;17825897;17982641;18021303;18024408;18180442;18278180;18327401;18441012;18710647;18725990;18765660;18793325;18832903;18838541;18974842;19127083;19178407;19178938;19204433;19372376;19415820;19420105;19422815;19448530;19474702;19477491;19578796;19625260;19646235;19647418;19698288;19786295;19809305;19878657;19913121;19933701;19933990;1998666;20022356;20142324;20143645;20228268;20303064;20383146;20386432;20452482;20532885;20589311;20628086;20673868;20729721;20814302;21071604;21071930;21192253;21264442;21297451;21304106;21512133;21546496;21631522;21828145;21849258;22286219;22396660;22500857;22703881;22905925;22916037;22920075;22993391;23381795;23659638;23692437;23849223;23874198;23896408;23994767;24388213;24855058;2882793;2888762;3011063;3162339;3198120;3361230;3521732;3754331;3877053;3886654;4140832;6604055;6793628;8049433;8528215;8641707;8665943;8710908;89876;9354665;9490684 2161 P00748;Q8IZZ5 AB095845;ABBA01033457;AC145098;AF538691;AM262522;AMYH02012836;BC012390;BE139501;BT007350;CH471195;L43615;M11723;M13147;M17464;M17466;M31315;NG_007568;NM_000505;U71274;U71275;U71276;U71277;U71278 AAA51986;AAA70224;AAA70225;AAB51203;AAB51204;AAB51205;AAB51206;AAB51207;AAB59490;AAB59491;AAH12390;AAI68381;AAM97932;AAP36014;BAC23095;CAK18991;EAW85002;EAW85003;EAW85004;EAW85005;NP_000496;P00748 Hs.1321 1650706;1665717;2147603;2182319 RH47779;RH67849;RH70295;STS-W95094 HAE3;HAEX;HAF Hageman factor;OTTHUMP00000223845;beta-factor XIIa part 1;beta-factor XIIa part 2;coagulation factor XII;coagulation factor XIIa heavy chain;coagulation factor XIIa light chain APPROVED protein-coding ENSG00000131187 HGNC:3530 01992 234000;610618;610619 REVIEWED 1342967 F10 coagulation factor X This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. [provided by RefSeq, Jul 2008] 13 13 13 q34 94603103 94629507 + 113777113 113803843 + 113122799 113149529 + 1601104;1580376;1580863;2290183;6480464;6907045;7240710;8554872;8699517 10048754;12356487;2790181 10391209;10460162;10521497;10746568;10828960;11371191;11560488;11854268;11864704;11867437;11914651;11983337;12011050;12036878;12056907;12123809;12163491;12220193;12370181;12379114;12426309;12477932;12490286;12524437;12529356;12574802;12787023;12805370;12941034;14532267;14575696;14576464;14583605;14629468;14718574;14739327;14750502;14963035;14979399;14982929;15009463;15069066;15326167;15328360;15347660;15489334;15494418;15550696;15567463;15634274;15641797;15882255;15892863;15897196;15924438;16006504;16042383;16079143;16105945;16169070;16207719;16212554;16359518;16517611;16580898;16712791;16839353;16894464;16935856;16940049;1698100;17020886;17118432;17173931;17343367;17391309;17393015;17403098;17469850;17553804;17588602;17635109;17646160;17726015;17903294;17973648;18000611;18031796;18062812;18174463;18178242;18198180;18245654;18267072;18278195;18296445;18388497;18391209;18403394;18419747;18502757;18506702;18591887;18612547;18680100;18765660;18766253;18768472;18784085;18929857;18974842;18991406;1902434;19108874;19135706;19158249;19172319;19188667;19190817;19244162;19250659;19350128;19350129;19404516;19429866;19581306;19652365;19691479;19724895;19843455;19851296;19858193;19874476;19895674;19913121;19931652;20062915;20062929;20088935;20088937;20135059;20140262;20156644;20198315;20347121;20427285;20451919;20454680;20534818;20589316;20589317;20628086;20634491;20664909;20694273;20722419;20730886;20806114;20806117;20826780;20864578;20886185;20946166;20949078;20978714;21071689;2110473;21139048;21156843;21252089;21596747;21621824;21637339;21651559;21673107;21682820;21778227;21811937;21840043;21849463;21871560;21885613;21947241;22008904;22126652;22160665;22224589;22244010;22409427;22411993;22424030;22627666;2271516;22796577;22905983;22931370;22989889;23019612;2303476;23214401;23294934;23381943;23416531;23585459;23658376;23664564;23677006;23754290;23872307;24041930;24068708;24124146;24158387;24201825;24275667;24449213;24467409;24821807;2551064;2582420;2612918;3011603;3052293;3422166;3487272;3768336;6323392;6587384;6871167;7598447;7669671;8136380;8146182;8243461;8355279;8428982;8460120;8639673;8663221;8702971;8939944;9058203;9079657;9198147;9402754;9538022;9596664;9618463;9689066;9734641;9759621 2159 B7ZBK1;F8WBM7;P00742;Q5JVE7;Q5JVE8 AB005892;ABBA01019861;AF503510;AK310772;AK310775;AK313798;AL137002;AMYH02028738;BC040125;BC046125;CB158437;CH471085;CS355178;EF445049;K01886;K03194;L00390;L29433;M22613;M33297;M57285;NG_009258;NM_000504;XM_005268298;XM_006719964 AAA51984;AAA52421;AAA52486;AAA52490;AAA52636;AAA52764;AAH46125;AAM19347;ACA06104;BAA21634;BAG36534;CAL24230;EAX09184;EAX09185;NP_000495;P00742;XP_005268355;XP_006720027 Hs.361463 1769407;1798502;1799766;1806480;1808834;1809506;1809976;1811642;1812956;1814644;1815352;1821164;1824206;1895346;1895348;1895350;1895352;1895354;1895356;1895358;1895360;1895362;1895364;1895366;1895368;1895370;1895372;1895374;1895376;1895378;1895380;1895382;1895384;1895386;1895388;1895390;1895392;1895394;1895396;1895398;1895400;1895402;1895404;1895406;1895408;1895410;1895412;1895414;1895416;1895418;1895420;1895422;1895424;1895426;1895428;1895430;1895432;1895434;1895436;1895438;1895440;1895442;1895444;1895446;1895448;1895450;1895452;1895454;1895456;1895458;1895460;1895462;1895464;1895466;1895468;1895470;1895472;1895474;1895476;1895478;1895480;1895482;2110387;2114078;2166560;2202514;2202516;2202518;2202520;2202522;2202524;2202526;2202528;2202530;2202532 ECD00089;ECD00737;ECD04197;ECD05400;ECD05745;ECD05980;ECD06824;ECD07492;ECD08352;ECD08712;ECD11659;ECD13200;F10;F10-888;F10_3215.2;REN18458;REN18459;REN18460;REN18461;REN18462;REN18463;REN18464;REN18465;REN18466;REN18467;REN18468;REN18469;REN18470;REN18471;REN18472;REN18473;REN18474;REN18475;REN18476;REN18477;REN18478;REN18479;REN18480;REN18481;REN18482;REN18483;REN18484;REN18485;REN18486;REN18487;REN18488;REN18489;REN18490;REN18491;REN18492;REN18493;REN18494;REN18495;REN18496;REN18497;REN18498;REN18499;REN18500;REN18501;REN18502;REN18503;REN18504;REN18505;REN18506;REN18507;REN18508;REN18509;REN18510;REN18511;REN18512;REN18513;REN18514;REN18515;REN18516;REN18517;REN18518;REN18519;REN18520;REN18521;REN18522;REN18523;REN18524;REN18525;REN18526;RH71376;stSG621987;stSG621988;stSG621989;stSG621990;stSG621991;stSG621992;stSG621993;stSG621994;stSG621995;stSG621996 FX;FXA OTTHUMP00000018735;OTTHUMP00000018736;OTTHUMP00000202678;Stuart-Prower factor;factor Xa;prothrombinase APPROVED protein-coding ENSG00000126218 HGNC:3528 01966 227600;613872 REVIEWED 732286 F13A1 coagulation factor XIII, A1 polypeptide This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008] 6 6 6 p25.3-p24.3 7372733 7550578 - 6144311 6320924 - 6144078 6321013 - 1581020;1581021;1581022;1581023;1581026;1581027;1581028;1581032;1581030;734955;1580863;6480464;6907045;7240710;8554872;8699517;8693344 11375345;11391716;11692020;11920201;11941274;12480694;12958612;1353995;16642548;9550516;9920839 10027709;10391209;10801785;10828988;10956659;10958788;10963790;11154123;11154124;11167856;11307805;11372678;11380452;11834540;11841441;11853093;11916071;11961312;11963567;12072871;12100162;12373334;12456499;12477932;12486862;12526104;12542492;12632025;12725605;12757770;12816904;12859294;12861374;12878486;12958613;14593529;14604285;14630798;14706682;14870915;15065858;15131115;15219459;15333035;15342556;15350843;15364237;15386532;15387436;15453833;15456491;15489334;15533380;15534175;15618543;15629368;15644629;15692256;15831156;15968394;16102108;16113789;16192348;16330458;16335952;16368540;1644910;16456856;16501286;16525568;16567932;16635210;16740590;16763156;16765424;16820332;16844105;16857944;16881935;16882823;16911684;16920044;16938111;16945500;16950433;16988547;17003923;17107352;17111197;17156138;17183677;17195962;17230042;17241179;17250879;17288735;17296595;17334514;17393027;17408468;17433418;17476115;17488662;17515963;17516146;17549290;17568659;17582472;17597187;17621488;17691819;17704111;17880458;17895511;17899444;17927806;17975119;17982641;17994314;18000871;18004208;18006701;18028394;18057060;18173921;18378576;18521512;18808204;18848323;18927546;18930220;18974842;19008959;19023099;19061349;19064572;19072566;19190815;19336370;19395327;19415820;19422454;19477035;19560472;19572072;19604232;19660184;19691486;19729601;19778283;19783216;19784898;19787322;19804366;19826759;19860767;19906129;19913121;19923980;19937244;19948975;19958990;19967163;20044141;20051843;20086247;2009280;20093496;20113359;20161734;20179087;20211923;20227257;20237496;20301327;20379614;20384622;20425806;20452482;20532202;20532885;20553949;20609463;20628086;20634891;20664907;20673868;20680227;20822334;20941461;21116278;21131589;21224475;21512576;21548851;21640452;21640701;21655673;21658166;21757696;21798378;2184890;21900206;21901231;21901234;21939789;22030394;22154241;22156982;22169303;22234358;22329719;22398040;22434605;22565190;22578139;22633530;22909010;22909824;22931734;23052999;23075332;23279035;23303819;23381943;23508224;23518792;23541322;2365049;23929307;24142643;24216108;24246248;24324551;24443567;24476525;2491853;2866798;2877456;2877457;2901091;2903011;3026437;4811064;7660355;7727776;7873582;7913750;7913909;7918041;7920263;8547636;8797098;8905624;8989823;9469423;9515726;9531593;9546612;9712293;9721590;9763561;9988734 2162 A6PVK5;H0Y4W5;H0Y796;P00488;Q9NQP5 A03736;AB208852;ABBA01022014;ABBA01022015;ABBA01022016;ABBA01022017;ABBA01022018;AF218234;AF418272;AK130666;AK304335;AK312735;AL133326;AL157775;AL391420;AMYH02013041;AMYH02013042;AMYH02013043;AMYH02013044;AMYH02013045;AMYH02013046;BC027963;BP251770;CH471087;M14354;M14539;M22001;NG_008107;NM_000129;XM_006715010 AAA52415;AAA52488;AAA52489;AAF65991;AAH27963;AAL12161;ABM84487;ABM85035;ABW03340;BAD92089;BAG35606;BAG65180;CAA00294;EAW55185;EAW55186;NP_000120;P00488;XP_006715073 Hs.335513 1651145;1741297;1771472;1785920;1795802;1848966;2115009;2143899;2151489 D6S1320;D6S1421;D6S2193;F13A1_447;GDB:180362;RH17664;RH36374;SHGC-142412;WI-18963 F13A FSF, A subunit;OTTHUMP00000015990;TGase;bA525O21.1 (coagulation factor XIII, A1 polypeptide);coagulation factor XIII A chain;coagulation factor XIII, A polypeptide;coagulation factor XIIIa;factor XIIIa;fibrin stabilizing factor, A subunit;fibrinoligase;protein-glutamine gamma-glutamyltransferase A chain;transglutaminase A chain;transglutaminase. plasma APPROVED protein-coding ENSG00000124491 HGNC:3531 00604 134570;188050;608446;613225 REVIEWED 1348825 F2RL2 coagulation factor II (thrombin) receptor-like 2 This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012] 5 5 5 q13 71805260 71813193 - 75911307 75919259 - 76615482 76623434 - 1580863;6480464;6484113;8554872 10079109;10409227;10477691;10766244;10788464;11307827;11544528;11714832;12037136;12477932;12692840;12732212;12757837;12805069;12953056;14507634;14515192;15254234;15489334;15504554;15582715;15850610;16046705;16102047;16458856;17057644;17347481;17376866;17474147;18264801;1851174;18836030;19379695;19473969;19513616;19586901;19718071;19806263;19913121;20068591;20155436;20390230;20442298;20454680;20628086;20930172;21596928;22541814;23000965;23333304;23739922;23788139;23921961;8290554;9087410;9614115;9618465;9639495;9716134;9722561 2151 O00254 ABBA01061964;AC026725;AF053124;AF374726;AK298585;AK312848;AL048674;AMYH02011610;BC093648;BC093650;BC095499;BM989640;BX537386;CH471084;DC419029;NM_001256566;NM_004101;U92971 AAC51218;AAH93648;AAH93650;AAH95499;AAK51564;BAG35701;BAG60775;CAD97628;EAW95778;NP_001243495;NP_004092;O00254 Hs.42502 1795806;2176770;5015619 D11S3114;F2RL2_622;STS-N26732 FLJ51933;PAR-3;PAR3 Coagulation factor II receptor-like 2 (protease-actovated receptor 3);OTTHUMP00000128316;protease-activated receptor 3;proteinase-activated receptor 3;proteinase-activated receptor-3;thrombin receptor-like 2 APPROVED protein-coding ENSG00000164220 HGNC:3539 03561 601919 REVIEWED 1313966 EXT1 exostosin glycosyltransferase 1 This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. 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SG630874;stSG630876;stSG630877;stSG630878;stSG630879;stSG630880;stSG630882;stSG630885;stSG630886;stSG630887;stSG630888;stSG630889;stSG630890;stSG630892;stSG630893;stSG630894;stSG630897;stSG630898;stSG630899;stSG630900;stSG630901;stSG630902;stSG630903;stSG630905;stSG630906;stSG630907;stSG630910;stSG630912;stSG630914;stSG630915;stSG630916;stSG630917;stSG630918;stSG630921;stSG630922;stSG630923;stSG630924;stSG630925;stSG630926;stSG630927;stSG630928;stSG630929;stSG630930;stSG630931;stSG630932;stSG630933;stSG630934;stSG630935;stSG630936;stSG630937;stSG630938;stSG630939;stSG630940;stSG630941;stSG630942;stSG630943;stSG630944;stSG630945;stSG630946;stSG630947;stSG630948;stSG630950;stSG630951;stSG630952;stSG630953;stSG630954;stSG630956;stSG630957;stSG630958;stSG630959;stSG630960;stSG630961;stSG630962;stSG630963;stSG630964;stSG630965;stSG630966;stSG630967;stSG630969;stSG630970;stSG630971;stSG630974;stSG630975;stSG630976;stSG630978;stSG630981;stSG630982;stSG630983;stSG630984;stSG630985;stSG630986;stSG630988;stSG630989;stSG630990;stSG630991;stSG630992;stSG630993;stSG630994;stSG630995;stSG630996;stSG630997;stSG630998;stSG630999;stSG631001;stSG631002;stSG631003;stSG631004;stSG631005;stSG631006;stSG631008;stSG631009 EXT;LGCR;LGS;TRPS2;TTV Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase;Langer-Giedion syndrome chromosome region;N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase;OTTHUMP00000066043;exostoses (multiple) 1;exostosin 1;exostosin-1;glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase;multiple exostoses protein 1;putative tumor suppressor protein EXT1 APPROVED protein-coding HGNC:3512 00598 133700;215300;608177 REVIEWED 1323246 F13B coagulation factor XIII, B polypeptide This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008] 1 1 1 q31-q32.1 170133795 170161866 - 197007877 197036568 - 197038747 197067267 - 1580863;6480464;6907045;7240710;8554872;8699517 10391209;11313256;11816711;12456499;12477932;1359667;14702039;14718574;1549502;15634282;15892856;16241947;16335952;16712791;16945500;17515963;17691819;17702963;18006701;18029348;18541031;18652485;18848323;19604232;19646949;19729601;19826759;19913121;19937244;19948975;20079358;20237496;20452482;20588308;20628086;20673868;21044367;21640452;22329719;22398040;22704111;2271707;2334637;2339067;23407795;2413926;24476525;2491853;2563250;2866798;2877457;3021194;3471677;7873582;8324218;8466897;8756701;8797098;8847818;8905624;8922891;9037894;9531593 2165 P05160 ABBA01027596;AK290560;AL353809;AMYH02002428;AY692223;BX510295;CB157213;CH471067;M14057;M64554;NG_012065;NM_001994;X51823;XM_005244953;XM_005244954 AAA51821;AAA88042;AAI48334;AAT85802;BAF83249;CAA36123;EAW91269;NP_001985;P05160;XP_005245010;XP_005245011 Hs.435782 1691836;2146742 AL009648;AL033973 FXIIIB OTTHUMP00000034674;TGase;coagulation factor XIII B chain;fibrin-stabilizing factor B subunit;protein-glutamine gamma-glutamyltransferase B chain;transglutaminase B chain APPROVED protein-coding ENSG00000143278 HGNC:3534 00605 134580;613235 REVIEWED 735960 F2R coagulation factor II (thrombin) receptor Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. [provided by RefSeq, Jul 2008] 5 5 5 q13 71905802 71925529 + 76011868 76031595 + 76716043 76735770 + 1581033;1581034;1581035;1581036;1302269;728482;1580863;6480464;5490126;6907045;7387269;7387271;7387270 11877315;12161502;12372796;12717003;1328304;14529396;14705148;19674841;20541575;9168786 10079109;10391209;10477691;10583385;10644723;10692450;10922491;10978167;11278329;11447194;11816709;11888681;11907122;11964083;11986954;12023853;12039967;12052963;12058063;12084570;12195707;12370395;12372769;12406873;12477932;12505789;12522081;12534282;12563219;12586611;12594292;12637343;12707033;12737439;12761501;12789289;12805069;12832443;12883880;12975361;1310691;13680213;14507634;14521606;14623891;14632180;14642534;14961162;14966279;14982936;15023990;15045135;15078882;15099288;15183114;15191806;15247268;15280447;15313016;15383630;15452121;15455382;15489334;15492257;15522964;15548541;15550696;15559761;15561975;15563688;15582715;15625067;15626732;15707890;15755869;15769747;15821019;15860737;15869604;15878870;15891109;15923186;16021575;16052512;16087677;16102047;16141404;16194864;16341594;16354200;16354660;16359518;16407403;16409451;16606835;16709572;1672265;16803467;16837456;16839349;16946713;16952995;17015787;17267663;17294805;17303701;17323377;17347481;17373694;17374729;17376866;17384202;17404307;17414212;17470200;17492768;17623652;17675516;17706138;17721620;17823308;17848177;17883592;17895623;17935246;18005014;18064407;18089851;18174463;18179608;18278202;18284602;18308730;18314110;18363813;18372913;18384756;18386288;1851174;18537828;18570113;18577758;18612544;18657231;18682394;18687805;18820708;18832729;18974842;18983479;18988801;19040205;19053259;19064814;19064940;19080851;19162217;19307610;19332793;19379698;19404549;19424642;19460777;19538737;19567485;19608609;19622587;19679555;19690217;19694963;19703903;19764478;19795418;19858310;19879874;19895674;19907018;19913121;19929245;19969492;20056842;20084489;20101173;20140262;20155436;20164183;20175118;20230207;20236938;20237496;20368337;20404340;20442298;20482314;20506163;20559570;20571025;20585578;20628086;20691446;20697725;20723226;20807173;20819545;20826780;20945373;21037076;21127289;21149441;21187389;21209875;21216163;21252088;21375587;21536369;21550978;21586224;21591259;21605334;21649850;21673343;21753781;21760880;21822552;21835828;21909684;21965661;21966428;21988832;21993564;22106258;22139419;22212092;22278285;22291441;22505724;22541814;22547407;22562397;22593082;22610965;22645275;22659187;22685255;22833563;22952809;22952817;22993310;23000965;23065128;23113835;23155052;23242308;23280079;23293110;23307185;23395513;23406164;23421536;23436459;23512987;23517743;23548249;23580642;23625915;23739922;23814055;23919450;23921961;24009311;24177339;24297163;24637088;24717606;24973402;25015289;7834643;7961693;8136362;8290554;8395550;8395910;8621593;8824285;8955127;8982657;9038223;9058715;9102146;9207393;9639571;9701242 2149 G3XAL6;P25116;Q2TNB2 ABBA01061966;ABBA01061967;AC025188;AF054633;AF391809;AK297131;AK308169;AK314202;AMYH02011610;AY771596;BC002464;BC016059;BC051909;BT007279;CH471084;M62424;NG_032906;NM_001992;S76625;U35634;U63331 AAA36743;AAC25993;AAC50740;AAD14229;AAH02464;AAH51909;AAK69768;AAP35943;AAX11426;ABM86025;ABW03766;BAG59635;EAW95779;EAW95780;EAW95781;NP_001983;P25116 Hs.482562 1655689;1795124;2179192;5037552;5118444 D11S3316;D8S2279;PMC98608P1;STS-N35000;WI-14632 CF2R;HTR;PAR-1;PAR1;TR OTTHUMP00000161974;OTTHUMP00000222020;protease-activated receptor 1;proteinase-activated receptor 1;thrombin receptor APPROVED protein-coding ENSG00000181104 HGNC:3537 01763 187930 REVIEWED 733704 F2RL1 coagulation factor II (thrombin) receptor-like 1 Coagulation factor II (thrombin) receptor-like 1 (F2RL1) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL1 is also a member of the protease-activated receptor family. It is activated by trypsin, but not by thrombin. It is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. The F2RL1 gene contains two exons and is widely expressed in human tissues. The predicted protein sequence is 83% identical to the mouse receptor sequence. [provided by RefSeq, Jul 2008] 5 5 5 q13 72008729 72025166 + 76114833 76131140 + 76819008 76835315 + 1580863;735010;4892587;4892586;4892588;4892590;4892589;6480464;6907045;8554872 12511586;17727088;19766246;19864598;20186875;21245013 10439226;10725339;10831593;10978167;11413129;11441110;11447194;11692107;11714832;11907122;12003791;12123809;12139406;12171601;12195707;12370395;12372769;12397176;12477932;12479889;12506061;12506328;12527925;12534282;12540381;12604689;12630574;12754192;12792776;12805069;12832443;12867500;12874461;12925212;14507634;14519665;14585156;14657869;14760751;14767448;15010475;15102084;15140225;15155775;15280447;15452121;15475570;15482468;15489220;15489334;15492786;15537383;15585570;15654951;15665002;15708858;15809358;15843583;15869604;15879299;15882255;15905579;16027150;16079188;16091786;16095910;16096323;16195539;16336275;16359518;16410250;16470180;16476770;16478888;16498082;16525644;16650817;16691196;16714334;16754659;16820307;16925462;17203172;17203209;17205215;17328048;17347265;17373694;17384202;17405913;17452051;17470200;17500066;17571167;17581194;17591792;17623652;17675298;17675516;17693410;17699557;17845211;17848177;17854923;17991872;18028876;18047634;18077203;18179608;18196899;18277946;18305573;18308730;18424071;18453611;18474671;18482083;18622013;18832729;18854173;18937843;18949403;18983479;19023130;19032384;19064814;19074826;19080851;19144196;19184329;19242518;19247167;19263271;19264156;19269113;19368691;19478484;19494303;19536895;19543320;19546160;19558454;19561109;19567485;19621073;19631240;19675284;19684015;19694963;19781631;19795460;19815543;19852794;19858310;19865078;19880163;19881225;19889021;19913121;19930877;19958818;20124108;20131076;20193273;20198321;20224228;20237496;20388709;20412704;20530726;20588261;20628086;20740367;20826780;20879045;20926011;21068362;21125404;21149441;21152870;21219331;21281800;21296894;21513479;21576245;21605334;21625939;21627585;21686228;21700341;21788507;21839502;21871560;21876326;21890473;21905006;21906983;21913036;21971685;21993564;22059396;22140500;22196772;22204707;22204866;22294633;22374699;22391066;22394598;22409427;22411985;22461388;22497886;22505523;22505524;22613992;22627362;22672593;22796577;22892662;22914544;22916223;22940775;22941376;22960271;23064451;23065128;23170789;23202369;23235155;23283995;23288842;23392769;23476015;23606513;23872307;23921961;23991686;24042113;24088315;24129891;24131465;24138209;24177339;24253040;24495782;24523067;24548792;24670244;24717606;7556175;7568091;7937743;8601636;8615752;8703006;8784787;9020112;9133675;9446822;9639495 2150 D6RJH3;P55085 ABBA01061971;AC010621;AF400075;AMYH02011610;AY336105;BC012453;BC018130;BT009856;CH471084;DB463838;GM732522;NM_005242;U34038;U36753;U67058;Z49993;Z49994 AAA90957;AAB47871;AAH12453;AAH18130;AAK77914;AAP88858;AAP97012;ABM81892;ABM85065;CAA90290;CAV28807;EAW95782;NP_005233;P55085 Hs.744181 1792144;1795804;1848011;5109281 D1S1425;F2RL1_620;PMC137545P1;RH18037 GPR11;PAR-2;PAR2 G protein-coupled receptor-11;G-protein coupled receptor 11;OTTHUMP00000128315;coagulation factor II receptor-like 1;protease-activated receptor 2;proteinase-activated receptor 2;proteinase-activated receptor-2;proteinase-activated receptor-2, g protein-coupled receptor 11;thrombin receptor-like 1 APPROVED protein-coding ENSG00000164251 HGNC:3538 02960 600933 VALIDATED 1346706 F7R coagulation factor VII regulator 3410461;6714981 2156 HGNC:3545 1351365 F2RL3 coagulation factor II (thrombin) receptor-like 3 Coagulation factor II (thrombin) receptor-like 3 (F2RL3) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL3 is also a member of the protease-activated receptor family. F2RL3 is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. F2RL3 is activated by thrombin and trypsin. [provided by RefSeq, Jul 2008] 19 19 19 p12 16901357 16904361 + 16999826 17002830 + 16889015 16892019 + 1580863;6480464 10079109;10477691;10500152;10702240;10766244;11714832;11907122;12006403;12008957;12477932;12732212;12871418;12888878;13678420;14521606;14973136;15045135;15078882;15099288;15203717;15489334;16102047;16837456;16952995;17323377;17373694;18179608;18427961;18480058;1851174;18682394;19053259;19058300;19437337;19528350;19667088;19913121;20155436;20175118;20230207;20561531;20628086;20807173;20930172;21127289;21164077;21391917;21461878;21635966;21649850;22151913;22228373;22318735;22411985;22511653;23307185;23784669;24097976;24216752;24723492;8290554;8982657;9618465;9716134;9722561 9002 M0R0Y0;Q96RI0 ABBA01051173;ABBA01051174;AC008737;AF055917;AF080214;AF384819;AMYH02035690;AY431102;BC074782;CH471106;NG_032894;NM_003950;XM_005260139 AAC25699;AAC28860;AAH74782;AAK61908;AAR08487;EAW84566;NP_003941;Q96RI0;XP_005260196 Hs.137574 1793454;1793532;1795126;5015404;5021396;5492647 GDB:313783;L17705;PMC22580P1;PMC22903P1;PMC98608P2;UniSTS:481901 PAR-4;PAR4 coagulation factor II receptor-like 3;protease-activated receptor-4;proteinase-activated receptor 4;proteinase-activated receptor-4;thrombin receptor-like 3 APPROVED protein-coding HGNC:3540 04148 602779 REVIEWED 1345586 F7 coagulation factor VII (serum prothrombin conversion accelerator) This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 13 13 13 q34 94585687 94600980 + 113760102 113774995 + 113105788 113120681 + 1580374;1580375;1580376;1580863;1601133;2312384;2312386;2312388;2312389;2312391;2312392;2312395;2312398;2312402;2312406;2312408;2290183;2312385;2312312;2312322;1625710;2312390;2312393;2312394;2312400;2312380;2312409;2312299;2312379;1304286;2312399;2312323;2312313;2312315;2312401;2312320;2312300;2312403;2312296;2312318;2312381;2312382;2312383;1598920;2312396;2312397;2312404;2312407;2312410;2312412;2312413;2312414;6480464;6907045;7240710;8554872;8699517 10048754;10332679;10450539;10468085;10599031;10653827;10837382;10899350;10910004;11137328;11146704;11297753;11334615;11474472;11689270;11776312;12356487;12586334;14513073;14614217;14724430;15204765;15258325;15608477;15842378;15860378;16116695;1634227;16739871;16779662;17660074;17785358;18000605;19329212;19357351;2716922;2810399;3240844;3660344;509177;7495060;8123879;812575;8250495;8458188;8522401;9187410;9258277;9569183;9686915;989968 10026263;10391209;10419671;10430872;10544046;10692465;10862079;10877552;10984565;11044420;11091194;11129332;11279932;11397354;11470437;11555697;11560488;11562337;11593034;11698657;11776298;11848442;11858478;11858502;11916081;11920218;11931672;11943935;12019261;12038786;12082592;12083486;12091048;12135351;12141403;12151156;12152682;12152685;12208482;12358603;12428089;12428092;12446192;12477932;12482354;12486862;12506121;12524237;12529745;12579498;12615788;12616980;12676783;12738672;12768436;12787023;12851844;12859287;12871323;12871370;12871600;12888866;12903033;12935410;12941034;14521602;14592825;14691565;14733777;14746139;14750502;14756558;14766762;14963283;15016732;15057823;15081566;15170085;15173027;15174051;15175795;15182581;15213840;15304047;15339682;15351850;15351855;15386437;15452029;15456489;15469874;15522303;15543320;15590402;15604416;15613046;15616124;15621215;15632123;15634274;15634284;15711754;15718364;15735789;15735798;15835921;15837082;15842358;15869604;15893284;15952268;15968393;15968394;15978118;16049588;16091654;16100725;16194204;16204244;16236263;16292673;16331575;16344560;16353042;16363246;16472842;16510984;16529959;16532678;16543963;16556685;16580898;16596941;16614319;16676068;16687401;16712791;16807660;16835245;16839353;16882823;16914903;16948532;17003923;17008590;17018600;17044869;17048007;17059418;17092304;17200119;17202767;17287630;17292373;17327234;17384202;17403098;17440998;17456045;17459125;17470200;17488662;17581323;17596133;17606459;17663738;17675296;17692102;17849063;17880564;17883708;17890943;17901076;17903294;17938795;17938822;17991872;18000603;18000604;18030173;18031796;18064331;18156490;18180609;18182033;18220034;18253477;18267072;18284606;18292408;18292410;18325076;18398422;18403734;18433457;18457169;18473114;18513389;18556408;18608122;18612104;18612547;18640965;18642129;18690338;18766253;18818748;18927546;18974842;18976247;18977990;19019335;1904059;19131662;19150996;19167313;19238444;19263529;19323053;19336475;19387626;19404533;19404551;19415820;19432927;19474452;19479237;19524011;19527514;19536895;19559392;19560472;19578796;19587380;19601987;19615732;19652895;19686262;19729601;19751712;19778283;19781705;19822353;19829668;19904262;19913121;19953488;19958090;19959538;19996301;20036902;20044773;20059471;20086294;20107938;20140262;20149073;20153024;20153879;20156643;20156644;20161734;20163832;20197348;20213530;20227556;20231535;20332763;20351643;20364300;20388709;20418241;20452482;20453637;20466994;20508904;20524980;20532885;20536507;20586182;20589311;20589312;20589316;20628086;20634491;20651279;20673868;2070047;20708733;20735721;20735728;20958793;21057703;21094984;21099211;21184651;21206266;21252088;21287501;2129367;21366858;21453389;21477332;21543928;21569219;21621824;21625939;21641634;21676895;21705315;21737124;21760481;21838885;21925715;21988832;22076613;22088413;22104068;22123573;22126652;22136731;22166631;22180436;22232927;22235940;22275370;22315437;22370814;22372829;22426302;2248955;22628013;22703881;2271516;22815813;22848420;22873696;22875495;22931734;22932775;22958499;23050902;23275237;23294934;23325480;23381943;23382263;23443559;23454357;23494077;23555015;23590660;23672839;23731332;23879866;24048512;24469878;2511201;25219139;3037537;3264725;3455766;3486420;3487272;3527261;7559437;7598447;7814421;7860081;7974346;7981691;7989361;8204879;8242057;8364544;8576177;8598903;8639673;8647260;8652821;8844208;8883260;9242537;9576180;9692950;9819044;9925787 2155 B4DPM2;E9PH36;F5H8B0;P08709 ABBA01019860;ABBA01019861;AF466933;AI076552;AK298404;AK310779;AK311565;AK311682;AL137002;AMYH02028738;AY212252;AY423856;BC130468;CB156039;CH471085;CS355169;DB184045;DQ142911;EF421855;EF445049;EU557239;J02933;M13232;NG_009262;NM_000131;NM_001267554;NM_019616;NR_051961;U14580;U40852;XM_006719963 AAA51983;AAA88040;AAA88041;AAC50211;AAI30469;AAL66184;AAP33841;AAQ94106;ABD17891;ABN79862;ACA06107;ACA06108;ACB87203;ADR83168;BAG60634;CAL24227;EAX09182;EAX09183;NP_000122;NP_001254483;NP_062562;P08709;XP_006720026 Hs.36989 1741335;1741641;1741715;1742355;1742857;1793098;1795808;1798564;1800114;1800666;1804634;1805892;1805970;1806430;1806978;1812400;1824044;1824352;1825294;1825464;1839868;1844168;1895232;1895234;1895236;1895238;1895240;1895242;1895244;1895246;1895248;1895250;1895252;1895254;1895256;1895258;1895260;1895262;1895264;1895266;1895268;1895270;1895272;1895274;1895276;1895278;1895280;1895282;1895284;1895286;1895288;1895290;1895292;1895294;1895296;1895298;1895300;1895302;1895304;1895306;1895308;1895310;1895312;1895314;1895316;1895318;1895320;1895322;1895324;1895326;1895328;1895330;1895332;1895334;1895336;1895338;1895340;1895342;1895344;1895346;2130338;2137182;2202496;2202498;2202500;2202502;2202504;2202506;2202508;2202510 ECD00121;ECD00913;ECD01194;ECD03249;ECD03899;ECD03938;ECD04171;ECD04454;ECD07207;ECD13118;ECD13274;ECD13753;ECD13839;ECD21117;ECD23297;F7_624;G15852;GDB:180725;GDB:181603;GDB:182330;GDB:196470;GDB:210952;PMC196491P1;REN18399;REN18400;REN18401;REN18402;REN18403;REN18404;REN18405;REN18406;REN18407;REN18408;REN18409;REN18410;REN18411;REN18412;REN18413;REN18414;REN18415;REN18416;REN18417;REN18418;REN18419;REN18420;REN18421;REN18422;REN18423;REN18424;REN18425;REN18426;REN18427;REN18428;REN18429;REN18430;REN18431;REN18432;REN18433;REN18434;REN18435;REN18436;REN18437;REN18438;REN18439;REN18440;REN18441;REN18442;REN18445;REN18446;REN18447;REN18448;REN18449;REN18450;REN18451;REN18452;REN18453;REN18454;REN18455;REN18456;REN18457;REN18458;RH44950;stSG621972;stSG621973;stSG621980;stSG621981;stSG621982;stSG621983;stSG621984;stSG621985 SPCA FVII coagulation protein;OTTHUMP00000018733;OTTHUMP00000018734;coagulation factor VII;eptacog alfa;proconvertin;serum prothrombin conversion accelerator APPROVED protein-coding ENSG00000057593 HGNC:3544 01965 227500;608446;613878 REVIEWED 737354 F3 coagulation factor III (thromboplastin, tissue factor) This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a potent initiator that is fully functional when expressed on cell surfaces. There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 1 1 1 p22-p21 93249195 93261871 - 94994732 95007413 - 94529176 94541857 - 1300308;1580863;1300309;2313861;2313865;2312381;2313859;2313863;2313868;2313869;2313862;6480464;5147765;6907045;8554872 12417540;12579195;15004866;15990447;16371118;17785358;17969370;21396682;9192667;9212353;9285207 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2152 P13726;Q8NCW7 A19048;ABBA01045508;AC093117;AF487337;AF497569;AF497570;AF497571;AF540377;AK310918;AK312638;AMYH02001508;AY940729;AY940730;AY940731;BC011029;BM769013;BM981095;BT019808;CH471097;CR541792;DB203987;DB499288;J02846;J02931;KF459524;M16553;M27436;NG_029366;NM_001178096;NM_001993;X07680 AAA36734;AAA61150;AAA61151;AAA61152;AAH11029;AAN01236;AAO61150;AAO61151;AAO61152;AAO61153;AAV38611;ABM83681;BAG35522;CAA01438;CAA30527;CAG46591;EAW73043;EAW73044;EAW73045;NP_001171567;NP_001984;P13726 Hs.62192 1744961;1773864;1794410;1797516;2166580 F3_45.3;GDB:583385;PMC311069P5;SHGC-31493;SHGC-75172 CD142;FLJ17960;TF;TFA OTTHUMP00000012426;OTTHUMP00000012427;coagulation factor 3;thromboplastin;tissue factor APPROVED protein-coding ENSG00000117525 HGNC:3541 00603 134390 REVIEWED 1349354 F8A3 coagulation factor VIII-associated 3 This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008] X X X q28 154273269 154274384 + 154687146 154688261 - 155457485 155458600 - 6480464 11256614;15687285;8528212 474384 P23610 AY620001;BC039693;BC071963;BX276110;BX571846;CH471172;NM_001007524 AAH39693;AAH71963;AAI56293;AAT44608;EAW72648;NP_001007525;P23610 Hs.533543 5091630;5112587;5123801 DXS522E;RH171;WI-12360 F8A1;F8A2 OTTHUMP00000032188;coagulation factor VIII-associated (intronic transcript) 3;cpG island protein;factor VIII intron 22 protein APPROVED protein-coding HGNC:31850 18666 REVIEWED 1346624 F8A2 coagulation factor VIII-associated 2 This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008] X X X q28 154273269 154274384 + 154611764 154612879 + 155382115 155383230 + 6480464 15687285;8528212 474383 P23610 ABBA01029147;AC234781;AY620000;BC039693;BC071963;BX682237;CH471172;NM_001007523 AAH39693;AAH71963;AAI72273;AAT44607;EAW72648;NP_001007524;P23610 Hs.533543;Hs.731793 F8A1;F8A3 OTTHUMP00000032191;coagulation factor VIII-associated (intronic transcript) 2;cpG island protein;factor VIII intron 22 protein APPROVED protein-coding ENSG00000274791 HGNC:31849 18665 REVIEWED 1353256 F2 coagulation factor II (thrombin) Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity during development and postnatal life. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. [provided by RefSeq, Jul 2008] 11 11 11 p11 46888702 46909014 + 46740743 46761056 + 46719192 46739506 + 1580340;1580362;1580342;1601108;1580863;1578509;1578508;2313852;2313862;2290183;2313851;5147776;5147767;5147769;5147774;5147766;5147775;5147770;5147777;5147751;5147760;5147764;5147784;5147754;5147779;5147765;5132267;5147755;5147763;5147778;5147753;5147752;5147773;5147782;5147756;5147768;5147772;5147780;5147781;5147783;5147750;5509914;5490126;6480464;6893482;6902907;6893596;6893489;6893575;6893526;6893586;6893593;6893519;6893574;6893577;6893486;6893603;6893520;6893573;6893592;6893628;6484113;6907045;7240710;7387310;7387259;7387272;7387320;7387257;7387313;7387268;7387323;7387240;7394774;7387261;7387258;7387307;7387314;7387315;7394769;2303423;7387324;7394765;8554872;8699517 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2147 C9JV37;E9PIT3;P00734 ABBA01060732;AC115088;AF478696;AF493953;AJ544114;AJ972449;AK222775;AK222777;AK293326;AK303747;AK312965;AMYH02024711;AY344793;AY344794;BC051332;CB156997;CH471064;CS355181;DB183734;M17262;M33031;NG_008953;NM_000506;S50162;V00595;XR_428840 AAA60220;AAB24476;AAC63054;AAH51332;AAL77436;AAM11680;AAR08142;AAR08143;ACE87074;ACE87755;BAD96495;BAD96497;BAG35804;BAG56844;BAG64719;CAA23842;CAD80258;CAJ01369;CAL24231;EAW67977;EAW67978;EAW67979;NP_000497;P00734 Hs.655207 1644400;1685560;2128536;5020800;5120085;5120087 GDB:196314;GDB:196315;RH17520;RH80273;STS-H75495;STS-W73782 PT;RPRGL2;THPH1 OTTHUMP00000197117;OTTHUMP00000233661;prepro-coagulation factor II;prothrombin;prothrombin B-chain;serine protease APPROVED protein-coding ENSG00000180210 HGNC:3535 01488 176930;188050;601367;613679;614390 REVIEWED 1342562 F8A1 coagulation factor VIII-associated 1 This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of factor VIII. A portion of intron 22 (int22h), containing F8A, is repeated twice extragenically closer to the Xq telomere. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008] X X X q28 154273254 154274955 + 154114635 154116336 + 154886360 154888061 + 6480464 11035034;11076863;11256614;12477932;1427887;15009463;15123239;15489334;15489336;15687285;16381901;1639415;16482509;16513639;18299331;18419747;19139273;19913121;20628086;2110545;23521092;8528212 8263 P23610 AL556125;AMYH02040863;AY619999;BC039693;BC071963;BX842559;CH471172;M34677;NG_011403;NM_012151;X86012 AAA35713;AAH39693;AAH71963;AAT44606;ABM87666;CAL38350;CAL38611;EAW72648;NP_036283;P23610 Hs.533543 1646269;1653160;1657017;1680325;1681374;1681460;1682666;1683439;1694640;1698880;1702350;1702674;1703066;1721043;1729117;1741041;1741063;1741113;1742353;1787250;1795176;1798554;1798628;1800254;1800410;1801258;1801576;1802724;1802912;1803872;1804438;1804946;1805010;1805322;1806514;1806816;1807892;1809564;1810024;1810026;1810614;1810616;1810990;1811144;1811870;1812164;1812514;1813088;1813090;1813314;1813316;1813386;1813462;1813874;1813970;1814190;1814764;1815158;1815538;1815618;1816038;1816698;1816750;1816828;1816984;1817078;1817472;1817476;1817664;1818148;1819244;1819574;1819576;1819902;1820344;1820478;1820716;1820784;1820912;1822890;1823250;1823862;1824018;1824090;1824406;1824486;1824638;1824718;1825044;1825208;1825986;1826318;1826424;1826778;1826882;1827040;1827220;1827396;1827882;1827884;1828442;1828526;1828672;1828980;1831084;1831208;1831682;1832024;1833126;1833192;1833870;1834782;1834824;1835360;1835896;1835996;1836048;1836286;1837234;1837602;1837872;1838102;1838148;1838870;1839156;1839776;1840002;1840388;1840528;1840584;1840786;1841192;1841440;1842196;1842198;1842392;1842580;1842792;1842978;1842980;1843146;1844146;1844222;1844224;1844320;1844322;1844916;1845144;1845402;1845864;1845918;1846152;1846178;1846512;1855611;2038012;2039908;2039910;2039912;2039914;2039916;2039918;2039920;2039922;2039924;2039928;2039930;2039932;2039934;2039936;2039938;2039940;2039944;2039946;2039948;2039950;2039952;2039954;2039958;2039960;2039962;2039964;2039966;2039968;2039970;2039974;2039976;2039978;2039980;2039982;2039986;2039988;2039990;2039992;2039994;2039996;2039998;2040002;2040004;2040006;2040008;2040010;2040012;2040014;2040016;2040020;2040022;2040024;2040026;2040028;2040030;2040032;2040036;2040038;2040040;2040044;2040062;2040064;2040066;2040068;2040070;2040072;2040076;2040078;2040080;2040082;2040084;2040086;2040088;2040090;2040094;2040096;2040098;2040100;2040102;2040104;2040112;2040114;2040116;2040118;2040120;2040124;2040126;2040128;2040130;2040132;2040140;2040142;2040144;2040146;2040148;2040152;2040154;2040156;2040158;2040160;2040162;2040164;2040166;2040168;2040170;2040172;2040174;2040176;2040178;2040180;2040182;2040184;2040186;2040188;2040192;2040194;2040196;2040198;2040200;2040202;2040204;2040206;2040208;2040210;2040212;2040214;2040216;2040218;2040220;2040222;2040226;2040228;2040230;2040232;2040234;2040236;2040238;2040240;2040242;2040244;2040246;2040248;2040250;2040252;2040254;2040256;2040258;2040260;2040262;2040264;2040266;2040268;2040270;2040272;2040274;2040276;2040278;2040280;2040282;2040286;2040288;2040290;2040292;2040294;2040296;2040298;2040302;2040304;2040306;2040308;2040310;2040312;2040314;2040316;2040318;2040320;2040322;2040324;2040326;2040328;2040330;2040332;2040334;2040336;2040338;2040340;2040342;2040344;2040346;2040348;2040350;2040352;2040354;2040356;2040358;2040360;2040362;2040364;2040366;2040368;2040370;2040372;2040376;2040378;2040380;2040382;2040384;2040386;2040388;2040392;2040394;2040396;2040398;2040400;2040402;2040404;2040406;2040408;2040410;2040412;2040414;2040418;2040420;2040422;2040424;2040426;2040428;2040432;2040434;2040436;2040438;2040440;2040442;2040444;2040448;2040450;2040452;2040454;2040456;2040458;2040466;2040468;2040470;2040472;2040474;2040476;2040478;2040480;2040484;2040486;2040488;2040490;2040492;2040494;2040496;2040500;2040502;2040504;2040506;2040510;2040512;2040514;2040516;2040518;2040520;2040522;2040524;2040528;2040530;2040532;2040534;2040536;2040538;2040540;2040544;2040546;2040548;2040554;2040556;2040560;2040562;2040564;2040566;2040568;2040570;2040574;2040576;2040578;2040580;2040582;2040584;2040586;2040588;2040590;2040594;2040596;2040598;2040600;2040602;2040604;2040608;2040610;2040612;2040614;2040616;2040620;2040622;2040624;2040626;2040628;2040630;2040632;2040634;2040636;2040638;2040640;2102994;2102996;2102998;2103000;2103002;2103008;2103010;2103016;2103018;2103020;2103024;2103026;2103028;2103030;2103032;2103034;2103036;2103038;2103040;2103042;2103044;2103046;2103048;2103050;2103052;2103056;2103058;2103060;2103062;2103064;2103066;2103068;2103070;2103072;2103074;2103076;2103078;2103080;2103082;2103084;2103086;2103088;2103090;2103092;2103094;2103096;2103098;2103100;2103102;2103104;2103106;2103108;2103110;2103112;2103114;2103116;2103118;2103120;2103122;2103124;2103126;2103128;2103130;2103132;2103134;2103136;2103138;2103140;2103144;2103146;2103148;2103158;2103160;2103186;2103188;2103190;2103192;2103194;2103196;2103198;2103200;2103202;2103204;2103206;2103208;2103210;2103212;2103214;2103218;2103220;2103222;2103224;2103226;2103228;2103230;2103232;2103234;2103236;2103238;2103240;2103242;2103244;2103246;2103248;2103250;2103252;2103254;2103256;2103258;2103260;2103262;2103268;2103270;2103272;2103274;2103276;2107681;2122415;2123707;2135068;2165668;2166194;2166783;2166898;2170335;2179484;2180727;2184834;2189485;2217648;2218878;5091630;5112587;5123801 A007I18;AU048852;D7S2905;DXS522E;DXS7035E;DXS7532;ECD00116;ECD00153;ECD00985;ECD01065;ECD01501;ECD01666;ECD02249;ECD02345;ECD02848;ECD03143;ECD03412;ECD03445;ECD03608;ECD04214;ECD04373;ECD04921;ECD05774;ECD06004;ECD06005;ECD06300;ECD06301;ECD06493;ECD06570;ECD06939;ECD07087;ECD07267;ECD07563;ECD07564;ECD07678;ECD07679;ECD07714;ECD07752;ECD07963;ECD08012;ECD08124;ECD08413;ECD08613;ECD08805;ECD08846;ECD09059;ECD09392;ECD09419;ECD09460;ECD09541;ECD09588;ECD09786;ECD09788;ECD09884;ECD10131;ECD10689;ECD10854;ECD10855;ECD11022;ECD11247;ECD11314;ECD11433;ECD11467;ECD11532;ECD12533;ECD12714;ECD13023;ECD13105;ECD13141;ECD13301;ECD13341;ECD13417;ECD13457;ECD13623;ECD13705;ECD14102;ECD14272;ECD14326;ECD14504;ECD14556;ECD14635;ECD14725;ECD14814;ECD15064;ECD15065;ECD15347;ECD15390;ECD15463;ECD15617;ECD16678;ECD16740;ECD16978;ECD17150;ECD17705;ECD17738;ECD18081;ECD18539;ECD18560;ECD18835;ECD19109;ECD19159;ECD19185;ECD19304;ECD19784;ECD19968;ECD20106;ECD20222;ECD20246;ECD20614;ECD20758;ECD21071;ECD21185;ECD21379;ECD21451;ECD21482;ECD21584;ECD21791;ECD21916;ECD22301;ECD22302;ECD22399;ECD22497;ECD22603;ECD22697;ECD22698;ECD22781;ECD23286;ECD23324;ECD23325;ECD23374;ECD23375;ECD23674;ECD23789;ECD23918;ECD24151;ECD24179;ECD24296;ECD24309;ECD24477;G43495;G59503;GDB:177507;GDB:177561;GDB:177816;GDB:196462;GDB:450201;GDB:452843;HSC271_(M4);MARC_7353-7354:992008374:4;MTCP1_2941;REN90020;REN90981;REN90982;REN90983;REN90984;REN90985;REN90986;REN90987;REN90988;REN90989;REN90991;REN90992;REN90993;REN90994;REN90995;REN90996;REN90997;REN90999;REN91000;REN91001;REN91002;REN91003;REN91004;REN91006;REN91007;REN91008;REN91009;REN91010;REN91011;REN91012;REN91014;REN91016;REN91017;REN91018;REN91019;REN91021;REN91022;REN91023;REN91024;REN91025;REN91026;REN91027;REN91029;REN91030;REN91031;REN91032;REN91033;REN91034;REN91035;REN91036;REN91038;REN91039;REN91040;REN91041;REN91042;REN91043;REN91044;REN91046;REN91047;REN91048;REN91051;REN91060;REN91061;REN91062;REN91063;REN91064;REN91065;REN91067;REN91068;REN91069;REN91070;REN91071;REN91072;REN91073;REN91074;REN91076;REN91077;REN91078;REN91079;REN91080;REN91081;REN91085;REN91086;REN91087;REN91088;REN91089;REN91091;REN91092;REN91093;REN91094;REN91095;REN91099;REN91100;REN91101;REN91102;REN91105;REN91107;REN91108;REN91109;REN91110;REN91111;REN91112;REN91113;REN91114;REN91115;REN91116;REN91117;REN91118;REN91119;REN91120;REN91121;REN91122;REN91123;REN91124;REN91125;REN91127;REN91128;REN91129;REN91130;REN91131;REN91132;REN91133;REN91134;REN91135;REN91136;REN91137;REN91138;REN91139;REN91140;REN91141;REN91142;REN91144;REN91145;REN91146;REN91147;REN91148;REN91149;REN91150;REN91151;REN91152;REN91153;REN91154;REN91155;REN91156;REN91157;REN91159;REN91161;REN91162;REN91163;REN91164;REN91165;REN91166;REN91167;REN91168;REN91169;REN91170;REN91171;REN91172;REN91173;REN91174;REN91176;REN91177;REN91178;REN91179;REN91180;REN91181;REN91182;REN91184;REN91185;REN91186;REN91187;REN91188;REN91189;REN91190;REN91191;REN91192;REN91193;REN91194;REN91195;REN91196;REN91197;REN91198;REN91199;REN91200;REN91201;REN91202;REN91203;REN91204;REN91205;REN91206;REN91207;REN91208;REN91209;REN91210;REN91211;REN91212;REN91213;REN91214;REN91215;REN91216;REN91217;REN91218;REN91219;REN91221;REN91222;REN91223;REN91224;REN91225;REN91226;REN91227;REN91229;REN91230;REN91231;REN91232;REN91233;REN91234;REN91235;REN91236;REN91237;REN91238;REN91239;REN91240;REN91242;REN91243;REN91244;REN91245;REN91247;REN91248;REN91250;REN91251;REN91252;REN91253;REN91254;REN91255;REN91256;REN91258;REN91259;REN91260;REN91261;REN91262;REN91263;REN91267;REN91268;REN91269;REN91270;REN91271;REN91272;REN91273;REN91274;REN91276;REN91277;REN91278;REN91279;REN91280;REN91281;REN91282;REN91284;REN91285;REN91286;REN91287;REN91289;REN91290;REN91291;REN91292;REN91293;REN91294;REN91295;REN91296;REN91298;REN91299;REN91300;REN91301;REN91302;REN91303;REN91304;REN91306;REN91307;REN91308;REN91311;REN91312;REN91314;REN91315;REN91316;REN91317;REN91318;REN91319;REN91321;REN91322;REN91323;REN91324;REN91325;REN91326;REN91327;REN91328;REN91329;REN91331;REN91332;REN91333;REN91334;REN91335;REN91336;REN91338;REN91339;REN91340;REN91341;REN91342;REN91344;REN91345;REN91346;REN91347;REN91348;REN91349;REN91350;REN91351;REN91352;REN91353;REN91354;RH103007;RH15635;RH171;RH35912;RH36657;RH46875;RH78991;RH79163;RH79860;RH92996;SGC35209;SHGC-143362;SHGC-2526;SHGC-32433;STS-AA002210;TMLHE__5099;UniSTS:57134;VBP1__5062;WI-12360;WI-13882;WI-15153;WIAF-2536;sWXD2469;stSG604339;stSG604340;stSG604341;stSG604342;stSG604343;stSG604346;stSG604347;stSG604350;stSG604351;stSG604352;stSG604355;stSG604356;stSG604357;stSG604358;stSG604359;stSG604360;stSG604361;stSG604362;stSG604363;stSG604364;stSG604365;stSG604366;stSG604367;stSG604368;stSG604369;stSG604371;stSG604372;stSG604373;stSG604374;stSG604375;stSG604376;stSG604377;stSG604378;stSG604379;stSG604380;stSG604382;stSG604383;stSG604384;stSG604385;stSG604386;stSG604388;stSG604389;stSG604390;stSG604391;stSG604393;stSG604394;stSG604395;stSG604396;stSG604397;stSG604398;stSG604399;stSG604400;stSG604401;stSG604402;stSG604403;stSG604404;stSG604405;stSG604406;stSG604407;stSG604408;stSG604409;stSG604410;stSG604411;stSG604412;stSG604413;stSG604414;stSG604415;stSG604416;stSG604418;stSG604419;stSG604420;stSG604425;stSG604426;stSG604439;stSG604441;stSG604442;stSG604443;stSG604444;stSG604446;stSG604447;stSG604448;stSG604449;stSG604450;stSG604451;stSG604452;stSG604453;stSG604454;stSG604455;stSG604457;stSG604458;stSG604461;stSG604462;stSG604463;stSG604464;stSG604465;stSG604466;stSG604467;stSG604468;stSG604469;stSG604470;stSG604471;stSG604472;stSG604473;stSG604474;stSG604475;stSG604476;stSG604477;stSG604478;stSG604479;stSG604480;stSG604481;stSG604484;stSG604485;stSG604486;stSG604487;stSG604488 DXS522E;F8A;F8A2;F8A3;HAP40 OTTHUMP00000015439;coagulation factor VIII-associated (intronic transcript) 1;cpG island protein;factor VIII associated protein;factor VIII intron 22 protein;huntingtin-associated protein 40 APPROVED protein-coding ENSG00000277203 HGNC:3547 02374 305423 REVIEWED 8661292 FAAHP1 fatty acid amide hydrolase pseudogene 1 1 1 1 p33 45190580 45198729 + 46899499 46911374 + 46433827 46445702 + 729041 ABBA01050837;AL137797;AMYH02000960;AMYH02000961;BI756183;NR_045483 Hs.170205 pseudo HGNC:50679 VALIDATED 737052 FAAH fatty acid amide hydrolase This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008] 1 1 1 p35-p34 45147299 45166880 + 46859939 46879520 + 46394267 46413848 + 1625726;1300311;1625741;1580863;6480464;7240710 12060782;15809662;16972078 10036136;10431820;10788462;10806398;11352748;11390466;11818522;12008024;12153574;12477932;12556536;12665801;12799380;14657172;15219977;15254019;15489334;15721218;16710414;17065342;17216208;17290447;17342744;17449448;17553686;17621164;17712725;17962356;17991615;18029348;18068305;18295974;18493729;18497731;18566995;18705688;18805581;18819056;19002671;19014633;19053981;19086053;19095868;19103437;19165169;19193342;19419760;19659925;19801960;19859057;19874574;19890266;19913121;19958092;20010552;20010914;20015515;20044928;20054193;20056290;20065978;20080186;20098695;20099163;20102775;20189896;20369362;20628086;20631561;20716455;20808855;20870184;20976246;21037510;21118518;21442624;21477106;21519771;21930339;22035053;22068813;22442717;22609216;22701012;22776995;22826533;22827915;22832737;23122699;23211960;23333123;23347118;23372171;23556448;23616186;23926887;24172113;24223930;24407958;24445122;24593280;9122178;9790682;9822713;9871570;9878243 2166 O00519;Q9UG55 ABBA01050837;ABBA01050838;ABBA01050839;AF098019;AL050372;AL122001;AMYH02000959;AMYH02000960;AY842444;BC034478;BC093632;BC110404;BC111941;BG718115;NG_012195;NM_001441;U82535 AAB58505;AAD13768;AAH93632;AAI10405;AAI11942;AAV88095;CAB62530;NP_001432;O00519 Hs.720143 1663387;5017504;5491617 FAAH;MARC_26106-26107:1032553127:3;SHGC-74781 FAAH-1;MGC102823;MGC138146;PSAB OTTHUMP00000009480;anandamide amidohydrolase 1;fatty-acid amide hydrolase 1;oleamide hydrolase 1 APPROVED protein-coding ENSG00000117480 HGNC:3553 04244 602935;606581;612319 REVIEWED 1603557 FAAH2 fatty acid amide hydrolase 2 This gene encodes a fatty acid amide hydrolase that shares a conserved protein motif with the amidase signature family of enzymes. The encoded enzyme is able to catalyze the hydrolysis of a broad range of bioactive lipids, including those from the three main classes of fatty acid amides; N-acylethanolamines, fatty acid primary amides and N-acyl amino acids. This enzyme has a preference for monounsaturated acyl chains as a substrate.[provided by RefSeq, Sep 2009] X X X p11.21 61167536 61369777 + 57313011 57515629 + 57286578 57489196 + 6480464 12477932;14702039;16344560;17015445;19095868;19926788;21832049;23898208 158584 B2C6G4;Q6GMR7 ABBA01069316;ABBA01069317;ABBA01069318;ABBA01069319;ABBA01069320;ABBA01069321;ABBA01069322;ABBA01069323;ABBA01069324;ABBA01069325;ABBA01069326;ABBA01069327;ABBA01069328;ABBA01069329;ABBA01069330;ABBA01069331;ABBA01069332;ABBA01069333;ABBA01069334;ABBA01069335;ABBA01069336;ABBA01069337;ABBA01069338;ABBA01069339;ABBA01069340;AF086253;AK055766;AL590394;AL606754;AL928898;AMYH02039533;AMYH02039534;AMYH02039535;AMYH02039536;BC048279;BC073922;BX110322;CH471154;DA392815;EU285560;KF459117;NG_013232;NM_174912;XM_005261982;XM_005261983;XM_005261984;XM_005261985;XM_005261986;XM_005261987;Z83745 AAH48279;AAH73922;ABZ79724;BAB71007;EAW93245;NP_777572;Q6GMR7;XP_005262039;XP_005262040;XP_005262041;XP_005262042;XP_005262043;XP_005262044 Hs.496205;Hs.745495 1787286;2140843;2178368 DXS9705;SHGC-145248;SHGC-57792 AMDD;FAAH-2;FLJ31204;RP11-479E16;RP11-479E16.1 OTTHUMP00000023420;amidase domain containing;amidase domain-containing protein;anandamide amidohydrolase 2;fatty-acid amide hydrolase 2;oleamide hydrolase 2 APPROVED protein-coding ENSG00000165591 HGNC:26440 06551 300654 REVIEWED 1346124 FABP10 fatty acid binding protein 10 337952 AF254642 HGNC:17323 1318772 FA2H fatty acid 2-hydroxylase This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010] 16 16 16 q23 59039540 59101413 - 74746853 74808729 - 74712955 74774831 - 737633;6480464;7240710;8554872;8699517 12477932 15337768;16344560;16713569;17355976;18463364;19068277;19834535;19844255;20104589;20301334;20301682;20379614;21592092;21599921;21735565;22704260;22925154;23447832;23535410;23566484;24299421 79152 H3BP32;J3QS89;Q7L5A8 AA857184;ABBA01058108;AC004685;AC009132;AJ278219;AK058016;AK303878;AK315512;AMYH02032384;BC002679;BC004263;BC010453;BC017049;CH471114;DA890369;NG_017070;NM_024306 AAC23496;AAH02679;AAH04263;AAH17049;BAB71632;BAG37893;BAH14072;CAC20436;EAW95677;EAW95678;NP_077282;Q7L5A8 Hs.461329 1674954;1684592;1730137;2115984 D16S2953;D16S430E;RH65017;SHGC-8141 FAAH;FAH1;FAXDC1;FLJ25287;SCS7;SPG35 OTTHUMP00000174940;fatty acid alpha-hydroxylase;fatty acid hydroxylase domain containing 1;spastic paraplegia 35 (autosomal recessive) APPROVED protein-coding ENSG00000103089 HGNC:21197 16873 611026;612319 REVIEWED 1344593 F5 coagulation factor V (proaccelerin, labile factor) This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] 1 1 1 q23 142590970 142665548 - 169481192 169555769 - 169511954 169586531 - 1580361;1580362;1580372;1580373;1580130;1580340;1580863;2313874;2290183;4892656;4892673;4892622;4892657;4892669;6480464;6902907;6893596;6893522;6893594;6893601;6893627;2313876;6893602;6893628;6907045;7240710;7394769;7387240;7394782;7394762;7394764;7394767;1601118;7394780;7394781;7394779;7387260;7394773;7394778;8554872;8699517 10048754;10511031;10634550;11092686;11471205;12928685;14706682;14996674;15026880;15043529;15077257;15147718;15172885;15257017;16015153;16113792;16186475;16235188;16246971;16549134;16572609;16760910;16911011;16968732;17431769;19458308;19520684;19524925;20182352;21955693;22527293;22707612;8948311;9293873;9836759 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756;24178294;24282370;24467409;24645228;24757862;24821807;2538457;2827731;2844223;3052293;3092220;3110773;3220473;6323392;6946465;7076681;7874144;7911873;7989361;8164741;8204629;8216224;8428962;8454869;8713778;9032460;9079657;9242537;9252393;9454741;9454742;9525959;9525969;9556620;9718313 2153 B4DU26;P12259 ABBA01027950;AF119360;AF285083;AJ297254;AJ297255;AK226079;AK291613;AK300469;AMYH02002112;AMYH02002113;AMYH02002114;AMYH02002115;AU279657;AY046060;AY136818;AY364535;CA395604;CB164139;CH471067;DB182033;DQ019941;DQ349066;DQ357212;DQ357213;DQ357214;DQ377944;KF495727;L32755;L32779;M14335;M16967;M94010;NG_011806;NM_000130;Z99572 AAA52416;AAA52424;AAB59401;AAB59532;AAF32515;AAG30113;AAI11462;AAI11589;AAI11930;AAL09164;AAN12307;AAQ55063;AAY85741;ABC75245;ABC96776;ABC96777;ABC96778;ABD23003;BAF84302;BAG62188;CAC82572;CAC82573;EAW90849;NP_000121;P12259 Hs.30054 1645118;1770157;1773374;1795026;1795028;2141364;2148953;5093990;5126047;5491356 A010A11;AL009384;F5-667F;G33041;PMC87879P1;PMC87879P2;RH11068;RH70793;SGC32933;SHGC-34799 FVL;PCCF;RPRGL1;THPH2 OTTHUMP00000032547;OTTHUMP00000032548;activated protein c cofactor;coagulation factor V;coagulation factor V jinjiang A2 domain;factor V Leiden;proaccelerin, labile factor APPROVED protein-coding HGNC:3542 01964 188055;227400;600880;601367;612309;614389 REVIEWED 735620 F9 coagulation factor IX This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. [provided by RefSeq, Jul 2008] X X X q27.1-q27.2 138980334 139013056 + 138612889 138645617 + 139530733 139565697 + 1300357;1580376;1300310;1580863;2290183;2312416;6480464;6907045;7240710;8554872;8699517 10048754;12356487;1631121;7974333;9326649 10094553;10391209;10467148;10698280;11122099;11122405;11133752;11278963;11396323;11583320;11736930;11754103;11754413;11830468;11891231;11925427;12036878;12070021;12105230;12152682;12167623;12192300;12477932;12496253;12513796;12522143;12522212;12570162;12588353;12604421;12768436;12824704;12871416;12871503;1304885;1346975;14521595;14532267;14567539;14629468;14660587;14718574;14722079;14963035;15009460;15039440;1517205;15183040;15219198;15326167;15328360;15383460;15456490;15489334;15581349;15590401;15634274;15643612;15772651;15829482;15842381;15866866;15913649;15921378;16102111;1615485;16322469;1634040;16517611;16766524;16839351;16939230;17014892;17048007;17230038;17308903;17397055;17414217;17563121;17882724;17985356;18029348;18179572;18192270;18293119;18393396;18434706;18449417;18459950;1854745;18600094;18624698;18647957;1902289;19047063;19158249;19262239;19286883;19357501;19404534;19416882;1958666;19617576;19656280;19699296;19817987;19913121;19930472;20004170;20128871;20301668;20346360;2040636;20539913;20628058;20628086;20695909;20885981;2110473;2129367;21305775;2162822;21976659;22057218;22207756;22212890;22281721;22471307;2248955;22544209;22618954;22639855;22870602;22961984;23014580;23054460;23093250;2339358;23410583;23446552;23472758;2352926;23530052;23580639;23585459;23617568;23617593;2372509;237463;23884417;24030831;24068708;24124147;24375831;2472424;2511201;2592373;2713493;2714791;2738071;2743975;2753873;2773937;2775660;2875754;2994716;3009023;3243764;3340835;3401602;3416069;3790720;3857619;6089357;6287289;6320191;6329734;6425296;659613;6603618;6687940;6688526;6959130;7547952;7598447;7606779;7713897;7981722;7987222;8076946;8172892;8199596;8236150;8257988;8295821;8392713;8626656;8663165;8680410;8833911;8855310;9047312;9222764;922557;9590153;9600455;9655178;9834200 2158 P00740 A01819;A07407;A13997;A14017;AB186358;ABBA01066041;ABBA01066042;ABBA01066043;ABBA01066044;ABBA01066045;ABBA01066046;AF486577;AF536327;AK292749;AL033403;AL645665;AMYH02040613;AMYH02040614;AY226143;AY269424;AY269425;BC109214;BC109215;CH471150;CS355175;DQ431774;DQ431775;DQ431776;DQ431777;DQ431778;DQ431779;DQ431780;DQ431781;DQ431782;DQ431783;DQ431784;DQ431785;DQ431786;DQ431787;DQ431788;DQ431789;DQ431790;DQ431791;DQ431792;DQ431793;DQ431795;DQ431796;DQ431797;DQ431798;DQ431801;DQ431802;DQ431803;DQ431804;DQ431805;DQ431806;DQ431807;DQ431808;DQ431809;DQ431810;DQ431811;DQ431812;DQ431813;DQ431814;DQ431815;DQ431816;DQ431817;DQ431818;DQ431819;DQ431820;DQ431821;DQ431822;DQ431823;DQ431824;DQ431825;DQ431826;DQ431827;DQ431828;DQ431829;DQ431830;DQ431831;DQ431832;DQ431833;DQ431834;DQ431835;DQ431836;DQ431837;DQ431838;DQ431839;DQ431840;FR846238;FR846239;FR846240;J00136;J00137;K02053;K02402;M11309;M19063;M35672;NG_007994;NM_000133;S66752;S68634;X55008;XM_005262397;XM_006724742 AAA51981;AAA52023;AAA52456;AAA52763;AAA56822;AAA98726;AAB28588;AAB29758;AAB59620;AAI09215;AAI09216;AAI46407;AAM96188;AAO73937;AAP34372;AAP34373;ABF68963;ABF68964;ABF68965;ABF68966;ABF68967;ABF68968;ABF68969;ABF68970;ABF68971;ABF68972;ABF68973;ABF68974;ABF68975;ABF68976;ABF68977;ABF68978;ABF68979;ABF68980;ABF68981;ABF68982;ABF68984;ABF68985;ABF68986;ABF68987;ABF68990;ABF68991;ABF68992;ABF68993;ABF68994;ABF68995;ABF68996;ABF68997;ABF68998;ABF68999;ABF69000;ABF69001;ABF69002;ABF69003;ABF69004;ABF69005;ABF69006;ABF69007;ABF69008;ABF69009;ABF69010;ABF69011;ABF69012;ABF69013;ABF69014;ABF69015;ABF69016;ABF69017;ABF69018;ABF69019;ABF69020;ABF69021;ABF69022;ABF69023;ABF69024;ABF69025;ABF69026;ABF69027;ABF69028;ABF69029;BAD89383;BAF85438;CAA00205;CAA00665;CAA01140;CAA01141;CAB38245;CAL24229;CCA61110;CCA61111;CCA61112;EAW88431;EAW88432;EAW88433;EAW88434;NP_000124;P00740;XP_005262454;XP_006724805 Hs.522798 1702422;1741069;1741101;1741133;1741215;1741659;1741673;1741689;1741691;1741693;1742455;1742457;1743203;1748055;1748057;1748059;1795810;1855608;1857473;2164003;2190861 F9;F9_627;G10618;G28615;G66627;G66628;G66629;GDB:177588;GDB:177796;GDB:177926;GDB:178640;GDB:181635;GDB:181846;GDB:182120;GDB:182121;GDB:182122;GDB:192503;GDB:197038;GDB:197039;GDB:303850;RH17659 F9 p22;FIX;FIX F9;HEMB;MGC129641;MGC129642;P19;PTC;THPH8 Christmas factor;OTTHUMP00000024154;coagulation factor 9;coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B);factor 9;factor IX F9;plasma thromboplastic component;plasma thromboplastin component;serine protease APPROVED protein-coding ENSG00000101981 HGNC:3551 02385 122700;300746;300807;306900 REVIEWED 736881 FABP1 fatty acid binding protein 1, liver This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011] 2 2 2 p11 88358422 88363490 + 88422501 88427650 - 88122982 88128131 - 1580863;1626441;1626440;6480464;8554872 15830271;17058218 10684629;11226238;11354243;11461829;12121132;12477932;12646418;14563446;15123239;15249972;15308127;15342556;15489334;15547295;16175609;16249547;16772708;16945373;1699834;17003471;17428383;17485234;17526850;17605029;17698986;17826730;18094680;18506375;18624398;18660489;18838948;18854154;19019918;19056867;19217864;19330863;19435794;19441025;19499240;19622156;19913121;20185732;20416077;20550918;20575163;20628086;20721681;21153750;21356355;21504508;21757748;21767383;21856370;21996226;22396741;22465531;22515481;22525507;22640736;23144966;23167703;23169100;23223350;23291381;23349979;23599408;23893635;24299557;24375576;24628888;24875102;2824476;3012800;3838309;3838313;7566098;7784447;8232272;9070383;9250612;9688651 2168 A8MW49;P07148;Q05CP7;Q6FGL7 AA345359;ABBA01018805;AC092836;AMYH02004254;BC022287;BC032801;BP263155;CH471215;CR542090;M10050;M10617;NM_001443 AAA52418;AAA52419;AAH22287;AAH32801;AAX88905;CAG46887;EAW77075;EAW77076;NP_001434;P07148 Hs.380135 2187140;5119761 GDB:181268;RH70351 FABPL;L-FABP OTTHUMP00000160828;OTTHUMP00000160829;fatty acid binding protein 1;fatty acid-binding protein 1;fatty acid-binding protein, liver;liver-type fatty acid-binding protein APPROVED protein-coding ENSG00000163586 HGNC:3555 00612 134650 REVIEWED 2302158 FABP12 fatty acid binding protein 12 ENCODES a protein that exhibits lipid binding (inferred); transporter activity (inferred); INVOLVED IN transport (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); arsenite(3-) (ortholog) 8 8 8 q21.13 78442243 78448512 - 82437216 82446056 - 81524981 81533827 - 6480464;8554872 12477932;16421571;18786628;22589738;23535730 646486 A6NFH5;H0YAS1 ABBA01004052;AC023644;AMYH02018314;AX785165;AX785168;BC146973;BC146981;CH471068;EU733650;NM_001105281;XM_005251285;XM_006716465;XM_006716466 A6NFH5;AAI46974;AAI46982;ACI03640;CAE11956;CAE11957;EAW87093;NP_001098751;XP_005251342;XP_006716528;XP_006716529 Hs.586370 1664067;2153074 AFMa126zg5;D8S2056 OTTHUMP00000227202;Probable fatty acid-binding protein ENSP00000353650;fatty acid binding protein ORF;fatty acid-binding protein 12;intracellular fatty acid-binding protein FABP12 protein-coding ENSG00000197416 HGNC:34524 PROVISIONAL 1346986 FABP3P2 fatty acid binding protein 3, pseudogene 2 13 13 13 q13-q14 24000996 24001639 - 42943250 42943893 - 42369114 42369757 - 9256083 56677 ABBA01021255;AL136527;AL138703;AMYH02027930;NG_001286;U72237 FABP3-ps;FABP3P pseudo HGNC:3558 INFERRED 735842 FABP2 fatty acid binding protein 2, intestinal The intracellular fatty acid-binding proteins (FABPs) belong to a multigene family with nearly twenty identified members. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Intestinal fatty acid-binding protein 2 gene contains four exons and is an abundant cytosolic protein in small intestine epithelial cells. This gene has a polymorphism at codon 54 that identified an alanine-encoding allele and a threonine-encoding allele. Thr-54 protein is associated with increased fat oxidation and insulin resistance. [provided by RefSeq, Jul 2008] 4 4 4 q28-q31 117600001 117604911 - 120238405 120243316 - 119317250 119322161 - 1300312;1582392;1300313;1300314;1580863;1578456;1578455;1626400;1578458;1578457;1626401;1626413;1626412;1626407;1626414;6480464;8554872 10337870;10946885;10999802;11699048;14981227;15059615;15620432;16013194;16249461;16289894;16311100;16919542;17211557;7883976 10070036;10856711;11288045;11299043;11385507;11423496;11555846;11606480;11707533;11730822;11866034;12079887;12161503;12189904;12370850;12377750;12477932;12634920;12691171;12809489;12855223;12899384;14563446;14567680;14605999;14650352;14666368;14686962;15135251;15135268;15159243;15177133;15489334;15527447;15547295;15572430;15598690;15764642;15776585;15869758;16002819;16276364;16679929;16718625;16718632;16733910;16809903;16908951;16945373;17143557;17207965;17209184;17212611;17292994;17310796;17343826;17383953;1740333;17428383;17447159;17512303;17594477;17605029;17633563;17684408;17907115;17914506;17921407;17960769;17975119;17992640;18065580;18201778;18280114;18282109;18422024;18440731;18506375;18634911;18660489;18701184;18824579;19023099;19056482;19156719;19282863;19288030;19324445;19367093;19384318;19439328;19475463;19491387;19499240;19578796;19689066;19689828;19878569;19913121;19948975;19961041;20047744;20080390;20202768;20308031;20329566;20332099;20384434;20413122;20416077;20452482;20484485;20534879;20565774;20578207;20621703;20628086;20673868;20723947;21044950;21079390;21288588;21355293;21767383;21840466;21861348;2193826;21988832;22396741;2263509;22817827;22838187;23072901;23303383;23362142;23817228;23911300;24100750;24340071;24640155;2824476;3838313;8401509;8454101;8954037;9204553;9250601;9806794 2169 P12104 ABBA01044706;AC092656;AK025079;AMYH02009989;BC069466;BC069617;BC069625;BC069637;BC111791;CH471229;M18079;NG_011444;NM_000134 AAA52417;AAH69466;AAH69617;AAH69625;AAH69637;AAI11792;ADQ32865;EAW73666;NP_000125;P12104 Hs.282265 1683673;1741219;1761391;1794444;2110391;2153883;2164632;5014784 FABP2_200;GDB:178665;PMC31346P1;SHGC-145405;SHGC-59292;SHGC-59542;SHGC4-110;SHGC4-8 I-FABP;MGC133132 FABPI;OTTHUMP00000163925;fatty acid binding protein 1;fatty acid-binding protein 2;fatty acid-binding protein, intestinal;intestinal-type fatty acid-binding protein 2289563 BW441_H APPROVED protein-coding ENSG00000145384 HGNC:3556 00611 134640 REVIEWED 1343567 F8 coagulation factor VIII, procoagulant component This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008] X X X q28 154222608 154409733 - 154064063 154255351 - 154835788 155022723 - 1582359;1582371;1582360;1582357;1580863;2290183;2312416;6480464;6907045;7240710;8554872;8699517 10048754;15202164;15634269;16786531;7721754;7974333 10338101;10350471;10404764;10521497;10554831;10612839;10691849;10800171;10886198;10896236;10910910;10910913;11027931;11057857;11091190;11122386;11128113;11278963;11298607;11341489;11391716;11396323;11410838;11442643;11442647;11554935;11574539;11673296;11722428;11737010;11739969;11748850;11769673;11799130;11830468;11848448;11848452;11857744;11858487;11864712;12036878;12041568;12058364;12091341;12154809;12195713;12199686;12201837;12203998;12204009;12220193;12325022;12351418;12358922;12368162;12406074;12412575;12426309;12428094;12477932;12522143;12567191;12574801;12578706;12614369;12615788;12617176;12717434;12719774;12719775;12768323;12857556;12871415;12871600;12930394;12958606;12969981;1301194;1301932;1301960;1303178;1349567;1356412;1427887;14517489;14521595;14629468;14629470;14644079;14675089;14684146;14717992;14718574;14722121;14764590;14961153;15073030;15213843;15236327;15304045;15353485;15456493;15459008;15471879;1554716;15550021;15660987;15670040;15682412;15705787;15710596;15735794;15735796;15810915;15824541;15869621;15886209;15913649;15921397;15946216;15996947;16020776;16038719;16042406;16086318;16088320;16102111;16128892;16270627;16335952;16339403;16380445;1639429;16487577;16513639;16569771;16601827;16601852;16628729;16732372;16769589;16805874;16823491;16839343;16894461;16894464;16953269;16953272;16956829;17116206;17119108;17209060;17287628;17334514;17342157;17349154;17445092;17498081;17498085;17502612;17610549;1761551;17636198;17649711;17650078;17680530;17786534;17823971;17846507;17848617;17849066;17890957;17916745;17927806;17944985;17958741;17958750;17973851;18000608;18000609;18024377;18034822;18064310;18160577;18162457;18166789;18179574;18184865;18217133;18217134;18217193;18277139;18292408;18299331;18327416;18337255;18371163;18371166;18387975;18388497;18388498;18400180;18403393;18419741;18424440;18435924;18457169;18459951;18479430;18481121;18492805;18495957;18503540;1851341;18515885;18521513;18535282;18549909;18600086;18612535;18634839;18647227;18685438;18702107;18752533;18752578;18803625;18808737;18983499;18983511;1898735;1902642;19047063;19080683;1908096;1908817;19110358;19126539;19132238;19150994;19187187;19240027;1924291;19304336;19329212;19336741;19350126;19369668;1939075;19404520;19404535;19473408;19473423;19548904;19563499;19595998;19624762;19642360;19687511;19715469;19719548;1973901;19740093;19765210;19778283;19778945;19811836;19817879;19825912;19874476;19913121;20007547;20015216;20028422;20050928;20054547;20062922;20089867;20153025;20174619;20184747;20193250;20231535;20236351;20237496;20301578;20351306;20438774;20456758;20460344;20492463;20528906;20586921;20589311;20605782;20606161;20609463;20627205;20628086;20664893;20682599;20705334;20735721;20735723;20737444;20800587;21029358;21041718;21044367;2104766;2105106;21052611;21057709;2105906;2106480;21070499;21071930;21072517;2107542;21092465;21094987;21103668;2110473;21143378;21156843;21188793;21210768;21217077;21245142;21305775;21371196;21371201;21462120;21470668;21498909;21585650;21605333;21606503;21645180;21645226;21668738;21682900;21689372;21705497;21751985;21774968;21810271;21849206;21901233;21909423;21940821;21947241;21953409;21988832;21992898;22032085;22032801;22057150;22057218;22057311;22103590;22117735;22136525;22173226;22189067;22219226;22224589;22234396;22270795;22282501;22401796;22411993;22422337;22466813;22471307;22559004;22613792;22621702;22655063;22776136;22808956;22854959;22883072;22906111;22958177;22958194;23058466;23088352;23111982;23140572;23168412;23178924;23205847;23224054;23238545;23243272;23262994;23299923;23306409;23348756;23348798;23349389;23349392;23372167;23403259;23417672;23446634;23480827;23482934;23526393;23534532;23555096;23580639;23636243;23636463;23682841;23690449;23696725;23709226;23754288;23809411;23852824;23867815;23884417;23926300;24009077;24030831;24085769;24108539;24167566;24170271;24170290;24211824;24275667;24317041;24578500;24700780;24814520;2491949;24927536;2495245;2498882;2499363;2506948;2510835;2565080;2833855;2835904;2896159;2987704;3012775;3013509;3122181;3134349;3935400;501196;6438526;6438528;7579394;7613471;7620160;7728145;7756647;7759074;7794769;7893714;8275087;8322269;8449505;8626656;8639447;8644728;8698347;8759905;9029040;9218428;9305856;9326186;9341862;9450898;9525969;9569180;9569189;9603440;9759621;9792405;9829908;9834200;9886318 2157 B1B0G8;B1B0G9;P00451 ABBA01029090;ABBA01029091;ABBA01029092;ABBA01029093;ABBA01029094;ABBA01029095;ABBA01029096;ABBA01029097;ABBA01029098;ABBA01029099;ABBA01029100;ABBA01029101;ABBA01029102;ABBA01029103;ABBA01029104;ABBA01029105;ABBA01029106;AC109993;AF081784;AF168366;AJ131818;AK289947;AK292902;AK295164;AK307726;AK313707;AMYH02040861;AMYH02040862;AMYH02040863;AMYH02040864;AX746360;AY769950;BC022513;BC064380;BC098389;BC111967;BC111969;BI547023;BX470111;BX842559;BX842564;BX890586;CH471172;DQ173562;DQ173592;DQ173593;DQ173594;DQ173595;DQ173596;DQ173598;DQ173599;DQ173600;DQ173601;DQ173602;DQ173603;DQ173604;DQ173605;DQ173606;DQ173607;DQ173608;DQ173609;DQ173610;DQ173611;DQ173612;DQ173613;DQ173614;DQ173615;DQ173616;DQ173617;DQ173618;DQ173619;DQ173620;DQ173621;DQ173622;DQ173623;DQ173624;DQ173625;DQ173626;DQ173627;DQ173628;DQ173629;DQ173630;DQ173631;DQ173632;DQ173633;DQ173634;DQ173635;DQ173636;DQ173637;DQ173638;DQ173639;DQ173640;DQ173641;DQ173642;FN811132;GM871750;HQ285726;JF916726;K01740;M14113;M88648;M90707;NG_011403;NM_000132;NM_019863;U80228;X01179 AAA52420;AAA52484;AAA52485;AAA58466;AAB61261;AAC32196;AAD50437;AAH22513;AAH64380;AAH98389;AAI11968;AAI11970;AAI66700;AAV85964;ABB58721;ABC25733;ABC25738;ABC25743;ABC25748;ABC25753;ABC25762;ABC25767;ABC25772;ABC25777;ABC25782;ABC25787;ABC25792;ABC25797;ABC25802;ABC25807;ABC25812;ABC25817;ABC25822;ABC25827;ABC25832;ABC25837;ABC25842;ABC25847;ABC25852;ABC25857;ABC25862;ABC25867;ABC25872;ABC25877;ABC25882;ABC25887;ABC25892;ABC25897;ABC25902;ABC25907;ABC25912;ABC25917;ABC25922;ABC25927;ABC25932;ABC25937;ABC25942;ABC25947;ABC25952;ABC25957;ABC25962;ABC25967;ABC25972;ABC25977;ABC25982;ADO65752;AEI17944;BAF82636;BAF85591;BAG36452;BAH11996;CAA25619;CAB40351;CAD97566;CAV28538;CBL59398;EAW72645;EAW72646;EAW72647;NP_000123;NP_063916;P00451 Hs.632836;Hs.654450 1702350;1702674;1741041;1741047;1741063;1741085;1741113;1742127;1742353;1787250;1795176;1798554;1798628;1801258;1801576;1802724;1803872;1804438;1804826;1804946;1805010;1806816;1807892;1810024;1810614;1810616;1810990;1811144;1811870;1813968;1815158;1815538;1816036;1816826;1816828;1817472;1817600;1818148;1819244;1819574;1819902;1820716;1820784;1823250;1824018;1824638;1826252;1826318;1826424;1827040;1827882;1828526;1828670;1831084;1831208;1833126;1834782;1835142;1835996;1836048;1837234;1837872;1838102;1838148;1839154;1839156;1839774;1839776;1840584;1840786;1841192;1841326;1841440;1843146;1844146;1844222;1844320;1845380;1845402;1845918;1846178;1846414;2038012;2039620;2039622;2039624;2039626;2039628;2039630;2039632;2039634;2039636;2039736;2039738;2039740;2039742;2039744;2039746;2039748;2039750;2039752;2039754;2039756;2039758;2039760;2039764;2039766;2039768;2039770;2039772;2039774;2039776;2039778;2039780;2039782;2039784;2039786;2039788;2039790;2039792;2039794;2039796;2039798;2039800;2039802;2039804;2039806;2039808;2039810;2039812;2039814;2039816;2039818;2039820;2039822;2039824;2039826;2039828;2039830;2039832;2039834;2039836;2039838;2039840;2039842;2039844;2039846;2039848;2039850;2039852;2039854;2039856;2039858;2039860;2039862;2039864;2039866;2039868;2039870;2039872;2039874;2039876;2039878;2039880;2039882;2039884;2039886;2039888;2039890;2039892;2039894;2039896;2039898;2039900;2039902;2039904;2039906;2039908;2039910;2039912;2039914;2039916;2039918;2039920;2039922;2039924;2039926;2039928;2039930;2039932;2039934;2039936;2039938;2039940;2039942;2039944;2039946;2039948;2039950;2039952;2039954;2039956;2039958;2039960;2039962;2039964;2039966;2039968;2039970;2039972;2039974;2039976;2039978;2039980;2039982;2039984;2039986;2039988;2039990;2039992;2039994;2039996;2039998;2040000;2040002;2040004;2040006;2040008;2040010;2040012;2040014;2040016;2040018;2040020;2040022;2040024;2040026;2040028;2040030;2040032;2040034;2040036;2040038;2040040;2040042;2040044;2040046;2040048;2040050;2040052;2040054;2040056;2040058;2040060;2040062;2040064;2040066;2040068;2040070;2040072;2040074;2040076;2040078;2040080;2040082;2040084;2040086;2040088;2040090;2040092;2040094;2040096;2040098;2040100;2040102;2040104;2040106;2040108;2040110;2040112;2040114;2040116;2040118;2040120;2040122;2040124;2040126;2040128;2040130;2040132;2040134;2040136;2040138;2040140;2040142;2040144;2040146;2040148;2040150;2040152;2040154;2040156;2040158;2040160;2040162;2040164;2040166;2040168;2040170;2040172;2040174;2040176;2040178;2040180;2040182;2040184;2040186;2040188;2040190;2040192;2040194;2040196;2040198;2040200;2040202;2040204;2040206;2040208;2040210;2040212;2040214;2040216;2040218;2040220;2040222;2040224;2040226;2040228;2040230;2040232;2040234;2040236;2040238;2040240;2040242;2040244;2040246;2040248;2040250;2040252;2040254;2040256;2040258;2040260;2040262;2040264;2040266;2040268;2040270;2040272;2040274;2040276;2040278;2040280;2040282;2040284;2040286;2040288;2040290;2040292;2040294;2040296;2040298;2040300;2040302;2040304;2040306;2040308;2040310;2040312;2040314;2040316;2040318;2040320;2040322;2040324;2040326;2040328;2040330;2040332;2040334;2040336;2040338;2040340;2040342;2040344;2040346;2040348;2040350;2040352;2040354;2040356;2040358;2040360;2040362;2040364;2040366;2040368;2040370;2040372;2040374;2040376;2040378;2040380;2040382;2040384;2040386;2040388;2040390;2040392;2040394;2040396;2040398;2040400;2040402;2040404;2040406;2040408;2040410;2040412;2040414;2040416;2040418;2040420;2040422;2040424;2040426;2040428;2040430;2040432;2040434;2040436;2040438;2040440;2040442;2040444;2040446;2040448;2040450;2040452;2040454;2040456;2040458;2040460;2040462;2040464;2040466;2040468;2040470;2040472;2040474;2040476;2040478;2040480;2040482;2040484;2040486;2040488;2040490;2040492;2040494;2040496;2040498;2040500;2040502;2040504;2040506;2040508;2040510;2040512;2040514;2040516;2040518;2040520;2040522;2040524;2040526;2040528;2040530;2040532;2040534;2040536;2040538;2040540;2040542;2040544;2040546;2040548;2040550;2040552;2040554;2040556;2040558;2040560;2040562;2040564;2040566;2040568;2040570;2040572;2040574;2040576;2040578;2040580;2040582;2040584;2040586;2040588;2040590;2040592;2040594;2040596;2040598;2040600;2040602;2040604;2040606;2040608;2040610;2040612;2040614;2040616;2040618;2040620;2040622;2040624;2040626;2040628;2040630;2040632;2040634;2040636;2040638;2040640;2040642;2102956;2102974;2102980;2102982;2102984;2102986;2102988;2102990;2102992;2102994;2102996;2102998;2103000;2103002;2103008;2103010;2103012;2103014;2103016;2103018;2103020;2103022;2103024;2103026;2103028;2103030;2103032;2103034;2103036;2103038;2103040;2103042;2103044;2103046;2103048;2103050;2103052;2103054;2103056;2103058;2103060;2103062;2103064;2103066;2103068;2103070;2103072;2103074;2103076;2103078;2103080;2103082;2103084;2103086;2103088;2103090;2103092;2103094;2103096;2103098;2103100;2103102;2103104;2103106;2103108;2103110;2103112;2103114;2103116;2103118;2155456;2166783 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AHF;DXS1253E;F8B;F8C;FVIII;HEMA OTTHUMP00000024269;OTTHUMP00000196174;antihemophilic factor;coagulation factor VIII;coagulation factor VIIIc;factor VIII F8B APPROVED protein-coding ENSG00000185010 HGNC:3546 02384 300841;306700 REVIEWED 736313 FABP5 fatty acid binding protein 5 (psoriasis-associated) This gene encodes the fatty acid binding protein found in epidermal cells, and was first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs may play roles in fatty acid uptake, transport, and metabolism. Polymorphisms in this gene are associated with type 2 diabetes. The human genome contains many pseudogenes similar to this locus.[provided by RefSeq, Feb 2011] 8 8 8 q21.13 78197737 78201964 + 82192718 82197012 + 81280483 81284777 + 1580863;6480464;6484672 21621639 10191275;10331666;10493790;11113456;12049637;12477932;12665801;12839573;1286667;1512466;15146197;15335354;15489334;15592455;16130169;16759896;16806233;17353931;17428383;18360704;18729184;19156129;19337991;19339807;19434059;19554614;19861119;20040021;20057506;20424164;20452069;20563994;20833513;21139048;21288588;21356353;21492859;21890473;21906983;22010213;22505724;22761399;22825302;23000965;23039948;23327868;23443559;23528210;23535730;23722546;24189640;24457600;24816145;25015289;8092987;8125298;8427590;8726632;8947466;9285630;9438903 2171 E7DVW5;I6L8B7;Q01469 ABBA01004054;AC009902;AK226036;AK311856;AMYH02018312;BC019385;BC070303;BT007449;CH471068;CN278427;HQ384161;M94856;NG_028154;NM_001444 AAA58467;AAH19385;AAH70303;AAP36117;ABM82211;ABM85396;ADU05470;BAG34797;EAW87088;NP_001435;Q01469 Hs.408061 1665701;1772667;2147510;2164729;5022271 D17S1973;RH36058;RH45783;RH66700;SHGC-53379 E-FABP;KFABP;PA-FABP EFABP;OTTHUMP00000166021;OTTHUMP00000166022;PAFABP;epidermal-type fatty acid-binding protein;fatty acid binding protein 5, epidermal;fatty acid-binding protein 5;fatty acid-binding protein, epidermal;psoriasis-associated fatty acid-binding protein homolog APPROVED protein-coding ENSG00000164687 HGNC:3560 05524 605168 REVIEWED 1352996 FABP5P1 fatty acid binding protein 5 pseudogene 1 13 13 13 q22.1 54573011 54573669 - 73674501 73675183 - 73100363 73101045 - 387934 ABBA01050342;AL354720;AMYH02028255;NG_006997 FABP5;FABP5L1 APPROVED pseudo HGNC:31059 INFERRED 2301483 FABP5P10 fatty acid binding protein 5 pseudogene 10 2 2 2 q23.3 145656989 145657619 + 152042675 152043307 + 151186161 151186793 + 9847074 344332 ABBA01004763;AC018731;AMYH02004977;NG_008710 FABP5L10 APPROVED pseudo HGNC:31066 INFERRED 2303313 FABP5P12 fatty acid binding protein 5 pseudogene 12 4 4 4 q32.1 157288339 157288938 + 159947213 159947876 + 159026061 159026724 + 9847074 100270673 ABBA01070215;AC093700;AMYH02010383;NG_009509 FABP5L12 APPROVED pseudo HGNC:31067 INFERRED 6481425 FABP5P15 fatty acid binding protein 5 pseudogene 15 X X 76983322 76983890 + 77727845 77728413 + 100873958 ABBA01029621;ABBA01029622;AC233293;AMYH02039815;NG_008838;NG_032191;Z84487 FABP5L15 pseudo HGNC:31071 INFERRED 1347750 FABP5P3 fatty acid binding protein 5 pseudogene 3 ENCODES a protein that exhibits lipid binding (inferred); transporter activity (inferred); INVOLVED IN transport (inferred) 7 7 7 q36.1 146691148 146697267 + 152133980 152140101 + 152436895 152443016 + 12853948 220832 A8MUU1 ABBA01035132;AC005631;AMYH02017088;BX338084;NR_002935 A8MUU1 Hs.647108 FABP5L3 fatty acid binding protein 5-like 3 APPROVED pseudo ENSG00000241735 HGNC:22573 PROVISIONAL 69087 FABP3 fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. [provided by RefSeq, Jul 2008] 1 1 1 p33-p32 30094670 30102486 - 31838100 31845923 - 31365253 31373076 - 1582401;1580863;2307331;2307330;2307328;1578459;6480464;7364738 16249436;17515913;18437121;23719537;7744030;8326460 12477932;12721663;12872269;15068254;1526991;15459486;15489334;16169070;16429158;16502470;16710414;1710107;17289870;17428383;17721027;17826730;17987659;18021874;18159110;18256058;18412949;18460953;18469019;18571749;18660489;19056867;19552571;19554614;19576209;19596235;19806479;19913121;20057506;20360068;20391015;2040092;20457766;20468064;20563994;20628086;20677014;20691835;20709047;20716856;20802519;20821366;20834198;20930282;21139048;21143341;21307379;21535886;21617322;21729325;21937835;22044705;22078394;22222353;22396741;2266954;2266970;22766253;22838188;23029183;23093954;23254629;23291993;23328883;23332896;23383108;23455491;23483223;23510163;23590685;23591828;23635017;23734811;24088526;24583397;3421901;7498159;7691977;7757968;7922029;7962070;8262516;8661024 2170 P05413;Q6IBD7;S4R371;S4R3A2 ABBA01023469;AI494244;AK314122;AL451070;AMYH02000679;BC007021;BT006727;CH471059;CR456867;NM_004102;S67314;U17081;U57623;X56549;Y10255 AAB02555;AAB29294;AAC99800;AAH07021;AAP35373;ABM84080;ABM87448;BAG36813;CAA39889;CAA71305;CAG33148;EAX07618;EAX07619;NP_004093;P05413 Hs.657242 5019923 RH94406 FABP11;H-FABP;M-FABP;MDGI;O-FABP Fatty acid-binding protein 3, muscle;OTTHUMP00000003898;fatty acid binding protein 11;fatty acid binding protein 3;fatty acid-binding protein, heart;heart-type fatty acid-binding protein;mammary-derived growth inhibitor;muscle fatty acid-binding protein APPROVED protein-coding HGNC:3557 00613 134651 REVIEWED 1346394 FABP5P4 fatty acid binding protein 5 pseudogene 4 13 13 q31.3 92832755 92833138 - 92180502 92180885 - 404766 ABBA01027227;AL163537;AMYH02028478;NG_027928 FABP5L4 APPROVED pseudo HGNC:31061 INFERRED 6481423 FABP5P14 fatty acid binding protein 5 pseudogene 14 2 2 217670246 217670715 - 216805523 216805992 - 100873957 ABBA01062825;AC007563;AMYH02005768;NG_032190 FABP5L14 pseudo HGNC:31065 INFERRED 733453 FABP4 fatty acid binding protein 4, adipocyte FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008] 8 8 8 q21 78395692 78400433 - 82390732 82395473 - 81478497 81483238 - 737747;1625411;1625407;1625406;1625408;1580863;6480464 16919044;17137605;17391165;8910278;9059981 10318917;12417276;12477932;1304913;15015141;15168018;15456755;15489334;15734831;16130169;16169070;16313911;1648089;16641093;16750515;16952017;17322100;17353931;17396233;17425064;17428383;17535427;17553506;17826730;18024526;18029348;18051367;18417367;18421072;18437151;18535557;18564921;18657008;18660489;18710473;18820256;18835952;18931100;18996102;19001529;19115207;19144635;19181913;19197257;19368945;19421706;19573524;19608978;19615732;19625659;19842034;19844814;19911253;19913121;20009357;20111020;20156355;20193950;20231079;20388924;20413122;20452069;20579864;20587710;20628086;20723896;20870707;21063874;21073559;21106915;21159847;21167393;21176857;21257725;21376375;21407103;21421494;21492859;21552513;21562251;21600061;21664182;21720879;21775757;21900206;21966368;22102888;22174896;22188744;22396741;22476608;22562362;22584136;22589738;22617714;22679309;22706792;22709426;22717543;22855337;22918198;23013043;23052058;23068962;23139800;23183502;23183506;23224329;23357154;23372061;23387955;23391391;23480783;23525430;23535730;23598540;23642261;23714112;23805908;23866022;24043587;24044564;24075747;24240026;24266781;24312381;24319114;24425381;2481498;7784447;8463311;9070383;9204877 2167 E5RIR0;E7DVW4;P15090 ABBA01004052;AC018616;AMYH02018314;BC003672;BQ880795;BT006809;CD000452;CH471068;CR456903;FJ224319;HQ384160;J02874;NM_001442 AAA51689;AAH03672;AAP35455;ACI46011;ADU05469;ADZ16076;CAG33184;EAW87092;NP_001433;P15090 Hs.391561 A-FABP;ALBP;HEL-S-104;aP2 AFABP;OTTHUMP00000227027;adipocyte lipid-binding protein;adipocyte-type fatty acid-binding protein;epididymis secretory protein Li 104;fatty acid binding protein 4;fatty acid-binding protein 4;fatty acid-binding protein, adipocyte APPROVED protein-coding ENSG00000170323 HGNC:3559 02698 600434 REVIEWED 1349159 FABP5P5 fatty acid binding protein 5 pseudogene 5 5 5 q15 95308671 95309158 - 95972967 95973454 - 100288964 ABBA01069245;AC008592;AMYH02011823;NG_027896 FABP5L5 APPROVED pseudo HGNC:31068 INFERRED 1345237 FABP5P2 fatty acid binding protein 5 pseudogene 2 13 13 13 q14.3 33589471 33590114 + 52540833 52541476 + 51966697 51967340 + 729163 ABBA01051052;AL138821;AMYH02028039;NG_008806;NG_009322 1744579 GDB:533050 FABP5L2 APPROVED pseudo HGNC:31060 INFERRED 1353302 FABP5P6 fatty acid binding protein 5 pseudogene 6 5 5 5 q23.1 114844675 114845085 - 118890943 118891353 - 119555248 119555658 - 100130687 ABBA01068976;AC010409;AMYH02012059;NG_008825 FABP5L6 APPROVED pseudo HGNC:31069 INFERRED 1344672 FABP5P11 fatty acid binding protein 5 pseudogene 11 22 22 22 q11 697914 698577 - 17075761 17076438 - 16594871 16595548 - 266699 ABBA01001467;AMYH02037979;AP000547;NG_002376 FABP5L11;FABP5P1 APPROVED pseudo HGNC:19328 INFERRED 2298929 FABP5P9 fatty acid binding protein 5 pseudogene 9 15 15 15 q25.3 62358372 62359032 + 85958398 85959083 + 85415167 85415852 + 642956 ABBA01052962;AC104046;AMYH02030965;NG_009323 FABP5L9 APPROVED pseudo HGNC:31064 INFERRED 5132511 FABP7P1 fatty acid binding protein 7, brain pseudogene 1 1 1 1 q44 217075360 217075745 - 243787684 243788420 - 243624382 243625118 - 100506953 ABBA01047212;AL662889;AMYH02003071;NG_029025;NG_029764 pseudo HGNC:41951 INFERRED 6481032 FABP7P2 fatty acid binding protein 7, brain pseudogene 2 2 2 96034290 96034631 - 95368542 95368883 - 100874317 ABBA01003561;AC009238;AMYH02004301;NG_032382 pseudo HGNC:41952 INFERRED 2301269 FABP5P8 fatty acid binding protein 5 pseudogene 8 15 15 15 q25.2 60872909 60873554 - 83713074 83713719 + 83044322 83044967 + 728729 ABBA01029433;AC024270;AMYH02030925;NG_009324 FABP5L8 APPROVED pseudo HGNC:31063 INFERRED 1343200 FABP9 fatty acid binding protein 9, testis ENCODES a protein that exhibits lipid binding (inferred); transporter activity (inferred); INVOLVED IN acrosome assembly (inferred); transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN acrosomal vesicle (inferred); INTERACTS WITH copper(2+) sulfate; 1,3-dinitrobenzene (ortholog); ammonium chloride (ortholog) 8 8 8 q21.13 78375577 78378717 - 82370618 82373758 - 81458383 81461523 - 634410;6480464;8554872 7958448 18803274;18950845 646480 Q0Z7S8 ABBA01004052;AC018616;AMYH02018314;CH471068;DQ821473;NM_001080526 AAI52781;ABG49443;EAW87091;NP_001073995;Q0Z7S8 Hs.653176 PERF;PERF15;T-FABP;TLBP OTTHUMP00000227026;fatty acid-binding protein 9;lipid-binding protein;testis lipid binding protein;testis lipid-binding protein;testis-type fatty acid-binding protein protein-coding ENSG00000205186 HGNC:3563 PROVISIONAL 1343684 FABP5P7 fatty acid binding protein 5 pseudogene 7 11 11 11 q12.1 56911322 56911966 - 59548580 59549224 - 59781107 59781751 - 728641 ABBA01021509;AMYH02024868;AP000640;NG_009321 1666195 STS-H71666 FABP5L7 APPROVED pseudo HGNC:31070 INFERRED 1345195 FADD Fas (TNFRSF6)-associated via death domain The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008] 11 11 11 q13.3 67315851 67320090 + 70049269 70053508 + 70203163 70207402 + 1580863;2292150;4143170;4143196;4143171;6480464;6484113;6907045;8699517;7240710 12655295;17403612;19239902;19961901 10235259;10442631;10493725;10542291;10640736;10825539;10848577;10880445;10894160;10911999;11002422;11034606;11035039;11048727;11101870;11112409;11353862;11376335;11395500;11717445;11739185;11740202;11741985;11752160;11753396;11805265;11828002;11854271;11859150;11877464;11940602;11965497;11975981;12037669;12107169;12122017;12196516;12198154;12220669;12235128;12477932;12482751;12496482;12499380;12604344;12684039;12702723;12702765;12721308;12753742;12761501;12796506;12815462;12851487;12887920;12911633;12954630;14573612;14644197;14694156;15034549;15048887;15069192;15173180;15207703;15280356;15383280;15388581;15452117;15452120;15485835;15489334;15601308;15645452;15659383;15665818;15688372;15761471;15778222;15782135;15849201;15916534;15956881;16003390;16006552;16061179;16109772;16127453;16169070;16177127;16227629;16258269;16289096;16339514;16360037;16410793;16450001;16498403;16528386;16538383;16611992;16710361;16762833;16844082;16871589;16937440;17031492;17047155;17159907;17235653;17290218;17360386;17511679;17656375;17911615;17975136;17977957;18029348;18174230;18309324;18328427;18387192;18485876;18632871;18632964;18813792;18840411;19060883;19074885;19118384;19125371;19176810;19303913;19336038;19362094;19364499;19373245;19415536;19453261;19524513;19557578;19573080;19583773;19593445;19773279;19955841;20040024;20070122;20353946;20420860;20438666;20448643;20484047;20568250;20588308;20802294;20890306;20935634;20943999;20947025;21048031;21052097;21109225;21115735;21183682;21315423;21382479;21458669;21525013;21613217;21620750;21706480;21724995;21737329;21785459;21803845;21822306;21894190;21900206;21978935;21979465;21988832;22126763;22130896;22179575;22253026;22266862;22274400;22297296;22322857;22585859;22838074;22848449;22864571;22922561;23096115;23142077;23606538;23760276;23763459;23972990;24250222;24316133;24577083;24686082;24816145;24980434;7536190;7538907;8565075;8681376;8906799;8955195;8967952;9037025;9045686;9082980;9208847;9215629;9228018;9325248;9326610;9430227;9521326;9560245;9582077;9721089;9774341;9990010 8772 Q13158;Q6LCG1 ABBA01010301;AI886015;AK291005;AL575732;AMYH02025046;AP000879;AY423721;BC000334;BC025733;BT006927;CH471076;CR456738;DQ449938;NG_027966;NM_003824;U24231;U62022;U74301;X84709 AAA86517;AAB58469;AAB58483;AAH00334;AAP35573;AAS00484;ABD96828;ABW03636;BAF83694;CAA59197;CAG33019;EAW74760;EAW74761;EAW74762;NP_003815;Q13158 Hs.86131 GIG3;MGC8528;MORT1 FAS-associated death domain protein;Fas-associating death domain-containing protein;Fas-associating protein with death domain;OTTHUMP00000235551;growth-inhibiting gene 3 protein;mediator of receptor induced toxicity;mediator of receptor-induced toxicity APPROVED protein-coding ENSG00000168040 HGNC:3573 03909 602457;613759 REVIEWED 5683941 FADS2P1 fatty acid desaturase 2 pseudogene 1 ENCODES a protein that exhibits heme binding (inferred); iron ion binding (inferred); oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (inferred); INVOLVED IN oxidation-reduction process (inferred); unsaturated fatty acid biosynthetic process (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred) 11 11 11 q12.1 54016852 54054362 + 56658263 56671985 + 56890787 56904509 + 16554811 643181 A8MWK0 ABBA01021464;AP000479;NG_032737 A8MWK0 pseudo HGNC:43618 INFERRED 1352711 FADS3 fatty acid desaturase 3 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008] 11 11 11 q12-q13.1 58976232 58994230 - 61640998 61659006 - 61873523 61891545 - 1580863;6480464 10860662;12477932;14702039;16344560;19060906;19060911;19148276;19750004;19752397;19798445;19913121;20339536;20562440;20628086;20686565;20972250;21040914;21139048;21366865;21829377;21906983;22082156;22286219;22359512;22398025;22877655;22916037;23000965;23362303;23378610;24097068;24390342 3995 E9PKP8;E9PPZ4;E9PQC2;E9PS00;H0YCN1;H0YED5;Q9Y5Q0 AB209356;ABBA01003206;ABBA01003207;ABBA01003208;AF084560;AF134404;AK091608;AK295473;AK310523;AMYH02024884;AP006260;AW080967;BC004901;CH471076;DA662142;NM_021727 AAD31282;AAG23122;AAH04901;ABM83806;ABM87128;BAD92593;BAH12081;EAW73976;EAW73977;EAW73978;NP_068373;Q9Y5Q0 Hs.21765 1335294;5024761;7187470 D7S511;RH36905 CYB5RP;LLCDL3 OTTHUMP00000236055;OTTHUMP00000236056;OTTHUMP00000236059;cytochrome b5-related protein;delta-9 fatty acid desaturase;delta-9-desaturase;linoleoyl-CoA desaturase (delta-9-desaturase)-like 3 APPROVED protein-coding ENSG00000221968 HGNC:3576 07547 606150 REVIEWED 1353760 FABP7 fatty acid binding protein 7, brain The protein encoded by this gene is a brain fatty acid binding protein. Fatty acid binding proteins (FABPs) are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs are thought to play roles in fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008] 6 6 6 q22-q23 123844958 123849530 + 123100646 123105219 + 122779501 122784074 + 1580863;6480464 10497880;10854433;12477932;12479569;12612091;12771203;12975368;14574404;14702039;15489334;15827123;15900300;16623952;17415524;17428383;17646957;17898869;18391847;18593473;18826602;19540848;19554614;19587692;19590950;19608352;19622156;20057506;20563994;20834042;21143341;21399875;21620951;21771320;22322885;22562177;22583899;22689954;23020859;23284888;24114376;24274717;25114248;8798739;8833192;9242429;9250612;9375786;9591779 2173 O15540 AB208815;ABBA01025981;AI879148;AJ002962;AK091664;AK289836;AK311867;AL512688;AL645811;AMYH02014413;AW156936;BC012299;BI860090;CH471051;CR457057;D50373;D88648;GM675548;KM111186;NM_001446;U51338;U81235;XM_005266858 AAB87141;AAD00507;AAH12299;ABM82363;ABM85539;ABW03402;AIL83746;BAA23324;BAA23645;BAD92052;BAF82525;BAG34808;CAA05773;CAC21646;CAG33338;CAV33163;EAW48165;EAW48166;EAW48167;NP_001437;O15540;XP_005266915 Hs.26770 B-FABP;BLBP;DKFZp547J2313;FABPB;LTR2-FABP7;MRG Hypothetical protein DKFZp547J2313;OTTHUMP00000017118;OTTHUMP00000017119;brain lipid binding protein;brain lipid-binding protein;brain-type fatty acid-binding protein;fatty acid-binding protein 7;fatty acid-binding protein, brain;mammary-derived growth inhibitor related;mammary-derived growth inhibitor-related APPROVED protein-coding ENSG00000164434 HGNC:3562 04271 602965 REVIEWED 1351054 FADS6 fatty acid desaturase 6 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN fatty acid biosynthetic process (inferred); lipid metabolic process (inferred); oxidation-reduction process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 17 17 17 q25.1 69466722 69482928 - 72873451 72889737 - 74876786 74893805 - 1580863;6480464 12477932;14702039;21988832 283985 B4DEP0;J3QRK6;Q8N9I5 ABBA01028823;ABBA01028824;AC068874;AC087651;AK094411;AK293720;AMYH02033981;AY203929;BC117230;CH471099;DA267830;NM_178128;XM_005257224;XM_006721820 AAI17231;AAP34452;BAC04349;BAG57151;EAW89210;EAW89211;NP_835229;Q8N9I5;XP_005257281;XP_006721883 Hs.448845 5015619 D11S3114 FP18279 fatty acid desaturase domain family, member 6 APPROVED protein-coding ENSG00000172782 HGNC:30459 13285 VALIDATED 7241717 FAF2P1 Fas associated factor family member 2 pseudogene 1 10 10 10 q23.32 87269283 87270589 - 93525659 93526965 - 91765902 91767208 - 100128043 ABBA01021925;AL359707;AMYH02023523;NG_022153 pseudo HGNC:45172 INFERRED 1348488 FAHD1 fumarylacetoacetate hydrolase domain containing 1 ENCODES a protein that exhibits acetylpyruvate hydrolase activity; fumarylpyruvate hydrolase activity; INVOLVED IN metabolic process (inferred); FOUND IN cytoplasm; cytosol; mitochondrion; INTERACTS WITH benzo[a]pyrene diol epoxide I; cadmium atom; copper(2+) sulfate 16 16 16 p13.3 2089471 2102473 + 1877225 1890208 + 1827224 1840207 + 6480464 11076863;11157797;11230166;11256614;12477932;14702039;15231747;15489334;15489336;15551868;16381901;17342744;20237496;20877624;21139048;21878618;21988832;22990118;24816145 81889 Q6P587 ABBA01030293;ABBA01030294;AC012180;AE006639;AF293367;AK094199;AL031722;AL136720;AMYH02031236;BC020615;BC063017;CH471112;CR533499;NM_001018104;NM_001142398;NM_031208 AAG10069;AAH63017;AAK61295;BAC04308;CAB66654;CAG38530;CAL37660;EAW85608;NP_001018114;NP_001135870;NP_112485;Q6P587 Hs.513265 5037552 D8S2279 C16orf36;DKFZp566J2046;MGC74876 OTTHUMP00000158841;OTTHUMP00000158842;OTTHUMP00000158843;YISK like/RJD15;YISKL;acylpyruvase FAHD1, mitochondrial;fumarylacetoacetate hydrolase domain-containing protein 1;yisK-like protein protein-coding ENSG00000180185 HGNC:14169 13286 VALIDATED 737077 FABP6 fatty acid binding protein 6, ileal This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q33.3-q34 155645918 155698251 + 159614374 159665729 + 160187367 160238722 + 1580863;6480464;8554872 10514450;10806391;12477932;12486725;14654244;14702039;15489334;15936983;16237211;16951225;17207965;17266179;17909007;18029348;19744871;19913121;20628086;22223860;22329738;23758264;7588781;7619861;7894165;8527237;8805562;9250612 2172 H0YB64;P51161 ABBA01044222;ABBA01044223;ABBA01044224;AC008609;AC112191;AI208231;AJ250902;AJ276802;AMYH02012601;AMYH02012602;BC022489;CH471062;DQ132786;NG_029500;NM_001040442;NM_001130958;NM_001445;U19869;X90908;XM_006714828;XM_006714829;XM_006714830 AAB82751;AAH22489;ABA12611;ADQ32819;CAA62415;CAB65728;CAC81780;EAW61563;EAW61564;EAW61565;EAW61566;NP_001035532;NP_001124430;NP_001436;P51161;XP_006714891;XP_006714892;XP_006714893 Hs.519719 1667816;1731170;1778312;1848292 AFMA081ZD5;D5S1389;D5S1761;D5S527 GT;I-15P;I-BABP;I-BALB;I-BAP;ILBP;ILBP3;ILLBP OTTHUMP00000160846;OTTHUMP00000198697;fatty acid binding protein 6;fatty acid-binding protein 6;gastrotropin;ileal bile acid binding protein;ileal lipid-binding protein;illeal lipid-binding protein;intestinal 15 kDa protein;intestinal bile acid-binding protein APPROVED protein-coding ENSG00000170231 HGNC:3561 02689 600422 REVIEWED 1344024 FADS1 fatty acid desaturase 1 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008] 11 11 11 q12.2-q13.1 58902499 58919931 - 61567097 61584529 - 61799625 61817057 - 1625415;1625413;1625421;6480464 12144877;16099631;8446010 10601301;10769175;10860662;12477932;14702039;15231747;15342556;16303743;16643857;16670158;16806233;16846730;16893529;17353931;17655842;17852835;18320251;18479586;18626191;18660489;18781797;18842780;18936223;19043545;19060906;19060910;19148276;19750004;19776639;19809313;19875987;19913121;19946888;19948371;20037589;20045144;20060505;20081858;20185807;20335541;20339536;20364269;20385826;20395685;20419449;20427696;20484448;20562440;20565855;20571754;20628086;20639392;20686565;20691134;20694148;20714348;20716318;20864672;20948998;20972250;20980488;21040914;21102463;21106917;21139048;21383846;21414826;21560298;21593353;21599946;21605700;21613373;21733300;21793953;21818279;21829377;21886157;21890473;21906983;21917437;21963094;21987572;22001757;22153152;22286219;22359512;22490578;22505724;22581228;22619218;22629455;22748975;22877655;22900039;22911844;22916037;22960237;22992776;23000965;23128233;23160180;23211517;23221573;23281178;23303382;23362303;23378610;23396965;23555103;23583979;23721366;23818766;23867726;24022589;24097068;24167612;24390342;8125298;8619474;9110174;9445487 3992 C9J425;C9JJB3;F5GWE3;F5GYH4;F5H0Y2;F5H1Q7;F5H2H3;F5H2R9;F5H3P6;F5H3U5;F5H5X5;F5H852;F5H8G5;H0YB97;H7C2V0;O60427 ABBA01003206;AC004770;AF035284;AF084558;AF199596;AF226273;AF271778;AI052027;AK027427;AK027522;AK074754;AK074819;AK096275;AK222906;AK289552;AK298871;AK314199;AL512760;AL834479;AMYH02024883;AP002380;BC007846;BP253788;CH471076;NM_013402 AAC23397;AAF29378;AAF70457;AAG23120;AAG44789;AAH07846;ABM84748;ABM92260;BAB55103;BAB55173;BAC11182;BAC11229;BAD96626;BAF82241;BAG36877;BAG53244;BAH12889;CAC21679;CAD39138;EAW73973;NP_037534;O60427 Hs.503546 1754337;1772132;1850975;2128209;2158312;2161002;2179675 D11S4702;RH11578;SHGC-132364;SHGC-24041;STS-W80802;WI-20214;WI-21900 D5D;FADS6;FADSD5;FLJ38956;FLJ90273;LLCDL1;TU12 OTTHUMP00000211567;OTTHUMP00000211568;OTTHUMP00000238177;delta(5) desaturase;delta(5) fatty acid desaturase;delta-5 desaturase;delta-5 fatty acid desaturase;linoleoyl-CoA desaturase (delta-6-desaturase)-like 1 APPROVED protein-coding ENSG00000149485 HGNC:3574 06935 606148 REVIEWED 6766683 FAHD2CP fumarylacetoacetate hydrolase domain containing 2C, pseudogene INTERACTS WITH valproic acid 2 2 2 q11.1 91117235 91129823 + 96676299 96688884 + 96010551 96023136 + 6480464 15146197;16341674 729234 ABBA01030080;ABBA01030081;AC013272;AMYH02004321;BI916267;BM790702;CN274361;NR_003698 Hs.720108 1685548;1734856;1734924;1740117;1751263;2156152;2165582;2177997 D2S1603E;D2S1692E;D2S2136;RH26381;RH35908;RH79204;SGC35015;SHGC-105076 pseudo ENSG00000231584 HGNC:44135 VALIDATED 733367 FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008] 15 15 15 q25.1 57382789 57416130 + 80445233 80478924 + 80152891 80186582 + 737743;737742;1580863;1300048;1559295;6480464;6907045;7240710;8554872;8699517 11209059;15731461;7545495 11196105;11278491;11476670;12477932;1401056;14718574;15465000;15489334;15638932;15759101;18072279;19056867;1998338;20029029;20201926;20301688;21764616;21890473;21963094;22554029;22884142;2336361;2378356;2378358;6622096;7296877;7550234;7757089;7821789;7942842;7977370;8005583;8028615;8162054;8318997;8364576;8422430;8557261;8723698;8829657;8889548;9101289;9305902;9633815 2184 H0YLC7;H3BNP8;P16930 ABBA01060623;ABBA01060624;AC087761;AK297965;AK313951;AMYH02030882;BC002527;BQ225295;BT007160;BU679766;BX537608;CH471136;D28440;M55150;NG_012833;NM_000137;S63548;S63549;X51728 AAA52422;AAH02527;AAP35824;BAA05806;BAG36668;BAH12698;CAA36016;CAD97795;EAW99120;EAW99121;NP_000128;P16930 Hs.73875 1743677;1743679;1744519;1744521;1744523;1788720;2125654;2183487;5106333;5120684 GDB:369113;GDB:369116;GDB:370745;GDB:512183;GDB:512186;GDB:512189;RH13;RH136637;RH77779;STS-AA010559 FAA;FLJ51912 OTTHUMP00000185572;beta-diketonase;fumarylacetoacetase APPROVED protein-coding ENSG00000103876 HGNC:3579 02040 276700;613871 REVIEWED 68475 FADS2 fatty acid desaturase 2 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 11 11 11 q12.2 58931086 58970195 + 61583675 61634826 + 61816203 61867354 + 1580863;6480464;8554872 10860662;12147235;12477932;12562861;12713571;12851727;12951357;14702039;16196087;16303743;16344560;16670158;16713569;16893529;16908951;17284757;17852835;17984066;18320251;18479586;18626191;18842780;18936223;18937842;19060906;19060910;19060911;19144731;19148276;19352218;19546342;19776639;19809313;19875987;19913121;19946888;19948371;20045144;20335541;20339536;20364269;20379614;20395685;20427696;20484448;20562440;20565855;20615514;20628086;20644632;20686565;20691134;20694148;20714348;20948998;20972250;20980488;21040914;21106917;21139048;21414826;21560298;21605700;21629299;21733300;21793953;21818279;21829377;21890473;21917437;21980057;21987572;22001757;22140540;22194195;22286219;22359512;22505724;22619218;22629455;22748975;22877655;22916037;22960237;23000965;23128233;23160180;23211517;23221573;23362303;23378610;23414387;23464991;23555103;23667444;23737301;23844124;23867726;24022589;24067669;24097068;24167612;24284026;24390342;24406470;24654937;24790207;9445487;9867867 9415 E5RGD8;E5RGZ5;E5RHL3;F5GZ92;F5GZU2;F5H622;O95864 AA665550;ABBA01003206;AF084559;AF108658;AF126799;AK027459;AK027513;AK027577;AK074925;AK074939;AK074991;AK123240;AK290291;AK299762;AL050118;AMYH02024883;AMYH02024884;AP002380;BC009011;CH471076;CQ782909;DA233832;HY090295;NM_001281501;NM_001281502;NM_004265 AAD20018;AAG23121;AAG43192;AAH09011;BAB55167;BAC11305;BAF82980;BAG51327;BAG51351;BAG52031;BAG53882;BAH13120;CAB43280;CAF86135;EAW73974;EAW73975;NP_001268430;NP_001268431;NP_004256;O95864 Hs.502745 1644761;1673469;1710744;1731283;1737015;1737019;1852998;2181833 D11S2574;D11S2768;D11S2771;D11S699;RH11733;SHGC-84003;STS-T78856;STS-Z40715 D6D;DES6;FADSD6;LLCDL2;SLL0262;TU13 OTTHUMP00000224924;OTTHUMP00000224926;OTTHUMP00000224929;OTTHUMP00000224931;delta(6) desaturase;delta(6) fatty acid desaturase;delta-6 desaturase;delta-6 fatty acid desaturase;delta-6-desaturase;linoleoyl-CoA desaturase (delta-6-desaturase)-like 2 APPROVED protein-coding ENSG00000134824 HGNC:3575 05854 606149 REVIEWED 1626693 FAHD2P1 fumarylacetoacetate hydrolase domain containing 2 pseudogene 1 12 12 12 q15 70729236 70730495 + 71065569 71066812 + 70671789 70673032 + 729610 ABBA01026521;AC083809;AMYH02026727;NG_006649 FAHD2P APPROVED pseudo HGNC:32441 INFERRED 733981 FAF1 Fas (TNFRSF6) associated factor 1 Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008] 1 1 1 p33 49192822 49712449 - 50906935 51425936 - 50441263 50960264 - 6480464;7421504;8554872 21784126 10094392;10462485;10810093;11243799;11378439;11527403;11713579;12087183;12372427;12477932;12702723;12832043;12963981;14600157;14702039;15207703;15231748;15489334;15592455;15596450;15688372;15743842;16169070;16807242;17046979;17684021;17999750;18573343;18775313;18790738;19013454;19174780;19422935;19471022;19615732;19722279;19913121;20057067;20124726;20195546;20237496;20379614;20628086;20639865;20886065;21076409;21139048;21282461;21295280;21411632;21414298;21645854;21849551;21890473;21900206;21906983;21914798;21963094;21978668;21987572;22053931;22064162;22102026;22350894;22505724;22730322;22863883;22876279;22939629;23000965;23293021;23314748;23383273;23720822;24816145;24885147;8524870;9740801 11124 B1ANM7;B3KT28;B4DEJ6;Q9UNN5 ABBA01074817;ABBA01074818;ABBA01074819;ABBA01074820;ABBA01074821;ABBA01074822;ABBA01074823;ABBA01074824;ABBA01074825;ABBA01074826;ABBA01074827;ABBA01074828;ABBA01074829;AC091610;AC118557;AF094700;AF106798;AF132938;AF136173;AJ271408;AK094843;AK292840;AK293659;AL049637;AL133631;AL359977;AL603746;AMYH02000990;AMYH02000991;AMYH02000992;AMYH02000993;AMYH02000994;AMYH02000995;BC004970;BC067100;CH471059;FB580531;KF495932;KF495945;NM_007051 AAD27713;AAD51876;AAD51886;AAH04970;AAH67100;AAP97263;ABM83865;ABM87187;BAF85529;BAG52940;BAG57107;CAB63755;CAB67705;CAR98246;EAX06837;EAX06838;NP_008982;Q9UNN5 Hs.530402 1335275;1648838;1658672;1697332;1733140;1781420;1846684;1853547;2133969;2143662;2146801;2146803;2153343;2166215;2177188;5106939;5110900 A005U39;AL009799;D1S1452;D1S2096;D1S2159;D1S427;G16233;G16279;G20519;G23937;RH102163;RH66672;RH67781;SHGC-111441;SHGC-74798;SHGC-74799;SHGC-74801 CGI-03;FLJ37524;HFAF1s;UBXD12;UBXN3A;hFAF1 FAS-associated factor 1;OTTHUMP00000009649;OTTHUMP00000009650;OTTHUMP00000009651;TNFRSF6-associated factor 1;UBX domain protein 3A;UBX domain-containing protein 12;UBX domain-containing protein 3A APPROVED protein-coding HGNC:3578 05124 604460 REVIEWED 1604379 FAF2 Fas associated factor family member 2 The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008] 5 5 5 q35.2 172564653 172626310 - 175875356 175937075 + 176448355 176510074 + 6480464 10048485;12372427;12477932;14741744;15489334;16196087;17353931;17550899;18711132;18775313;18835813;19322201;19615732;19815544;19818707;20160012;20435896;21115839;21139048;21636303;21726808;21853274;21857022;21890473;21906983;21909096;21963094;21987572;22053931;22119785;22238364;22268729;22337587;22350894;22454508;22466964;22505724;22797925;22939629;23000965;23246001;23297223;23618873;23665563;23720822;24160817;24215460;24356957;24457600;24816145 23197 D6RBG6;Q96CS3 AB020694;AB088120;ABBA01033495;ABBA01033496;ABBA01033497;AC010297;AC010316;AK304346;AL706430;AMYH02012813;AMYH02012814;AMYH02012815;BC001069;BC006145;BC014001;BC015791;CH471195;NM_014613 AAH01069;AAH06145;AAH14001;ABM83626;ABM87292;BAA74910;BAC22491;BAG65190;EAW85073;EAW85074;EAW85075;NP_055428;Q96CS3 Hs.484242 1663244;1689863;1699242;1730381;1740439;1748487;1780750;1853824;2168023 D5S2245E;D5S439E;RH103202;RH46161;RH47275;RH68559;RH79667;SHGC-511;bac51930T ETEA;KIAA0887;UBXD8;UBXN3B FAS-associated factor 2;OTTHUMP00000223381;UBX domain containing 8;UBX domain protein 3B;UBX domain-containing protein 3B;UBX domain-containing protein 8;expressed in T-cells and eosinophils in atopic dermatitis APPROVED protein-coding ENSG00000113194 HGNC:24666 16870 REVIEWED 1602649 FAHD2B fumarylacetoacetate hydrolase domain containing 2B ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH diazinon; zinc atom; zinc(0) 2 2 2 q11.2 92191478 92202734 - 97749320 97760603 - 97083583 97094866 - 6480464 12477932;21963094;21987572 151313 Q6P2I3 ABBA01036561;ABBA01036562;AC018892;AK295056;AL833869;AMYH02004340;BC064511;CH471207;NM_199336;XM_005263892;XM_005263893 AAH64511;AAY14641;BAG58105;CAD38727;EAW71308;EAW71309;EAW71310;EAW71311;EAW71312;EAW71313;EAW71314;NP_955368;Q6P2I3;XP_005263949;XP_005263950 Hs.567723 1734856;5113488;5127467 D2S1603E;G06210;RH26818 DKFZp434N062 OTTHUMP00000161093;OTTHUMP00000207739;fumarylacetoacetate hydrolase domain-containing protein 2B protein-coding ENSG00000144199 HGNC:25318 13198 PROVISIONAL 1345912 FAHD2A fumarylacetoacetate hydrolase domain containing 2A ENCODES a protein that exhibits catalytic activity (inferred); hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH aflatoxin B1; cobalt dichloride; cocaine 2 2 2 q11.2 90421569 90432000 + 96068439 96082357 + 95402691 95416603 + 1580863;6480464 10810093;12477932;14702039;15551868;17207965;20532202;21139048;21963094;21987572;25027693;7566098 51011 C9J5B6;C9JGM0;Q96GK7 AA311902;ABBA01003556;ABBA01003557;ABBA01003558;AC009238;AF151863;AK092980;AMYH02004301;BC009403;BC110911;CH471219;NM_016044;XM_006712560;XM_006712561;XM_006712562;XM_006712563 AAD34100;AAH09403;AAI10912;AAY14753;ADQ32346;EAX10729;EAX10730;EAX10731;EAX10732;EAX10733;NP_057128;Q96GK7;XP_006712623;XP_006712624;XP_006712625;XP_006712626 Hs.531247;Hs.546387 1734856;1734924;2156152;2165582;5113488;5123755;5127467 D2S1603E;D2S1692E;G06210;RH26818;RH35908;SGC35015;WI-12180 CGI-105;FLJ35661;MGC131995 OTTHUMP00000160946;OTTHUMP00000207352;fumarylacetoacetate hydrolase domain containing 1;fumarylacetoacetate hydrolase domain-containing protein 2A protein-coding ENSG00000115042 HGNC:24252 13287 VALIDATED 1601917 FAM101B family with sequence similarity 101, member B ENCODES a protein that exhibits filamin binding; INVOLVED IN actin cytoskeleton organization (inferred); epithelial to mesenchymal transition (inferred); FOUND IN actin cytoskeleton (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid 17 17 17 p13 390834 394350 - 289769 295731 - 439978 445940 - 6480464 12477932;14702039;15489334;16169070;21139048 359845 Q8N5W9 ABBA01015238;AC141424;AF085987;AK093557;AMYH02032717;BC014203;BC031341;CH471108;NM_182705 AAH31341;EAW90664;EAW90665;NP_874364;Q8N5W9 Hs.345588;Hs.723693;Hs.741149 1648800;1769230;2137016;2171546;5037552 D8S2279;RH36618;RH68688;SHGC-31105;STS-W52547 CFM1;MGC45871 OTTHUMP00000163310;hypothetical protein LOC359845 protein-coding ENSG00000183688 HGNC:28705 14646 615928 VALIDATED 1603318 FAIM3 Fas apoptotic inhibitory molecule 3 Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010] 1 1 1 q32.1 180328164 180346901 - 207076630 207095378 - 206903285 206922033 - 6480464 12477932;15342556;1563211;16344560;16712791;17553462;18029348;18434611;18708628;19347734;19858324;20042454;20211142;20237496;20410497;21133733;21264533;21613257;21756805;21908424;21908732;22675200;23128233;9586636 9214 E9PMT7;E9PN59;E9PPV1;E9PQG1;O60667 AA769146;ABBA01010194;ABBA01010195;AC098935;AF057557;AI524407;AK292007;AK297053;AK301187;AK316336;AMYH02002557;AMYH02002558;BC006401;BP225124;BP305798;BP338035;BT006797;CB158779;CH471100;DA971987;DB122623;DC393681;GQ160900;GQ160901;HI179036;HM480394;NM_001142473;NM_001193338;NM_005449;XM_005273351;XM_005273352 AAC18830;AAH06401;AAP35443;ABM81625;ACX94154;ACX94155;ADK11426;BAF84696;BAH12483;BAH13426;BAH14707;CBX53827;EAW93517;NP_001135945;NP_001180267;NP_005440;O60667;XP_005273408;XP_005273409 Hs.58831;Hs.744273 1338173;1796104;2167433 D1S2735;IL24_765;SHGC-76250 FcmR;TOSO Fc mu receptor;IgM Fc receptor;OTTHUMP00000034619;OTTHUMP00000228559;immunoglobulin mu Fc receptor;regulator of Fas-induced apoptosis Toso APPROVED protein-coding HGNC:14315 09349 606015 VALIDATED 1606962 FAM101A family with sequence similarity 101, member A INTERACTS WITH (-)-epigallocatechin 3-gallate; fonofos; parathion 12 12 12 q24.31 124374399 124401227 + 124773710 124800570 + 124289164 124316024 + 6480464 12477932;14702039;16169070;16541075;23490283 144347 Q6ZTI6;Q8N2Q0;V9GYG3 ABBA01060380;AC073916;AK074545;AK126577;AMYH02027468;AMYH02027469;BC026875;BC042102;BC067283;BC085606;BC141805;BQ182211;CH471054;NM_181709 AAI41806;BAC11049;BAC86601;EAW98447;NP_859060;Q6ZTI6 Hs.432901 2168542 WI-12422 CFM2;FLJ44614 OTTHUMP00000239109;hypothetical protein LOC144347 protein-coding ENSG00000178882 HGNC:27051 14066 615927 VALIDATED 6480815 FALEC focally amplified long non-coding RNA in epithelial cancer 1 1 150488233 150490508 + 150515757 150518032 + 20887892;25203321 100874054 ABBA01049347;AL356356;AL713297;AMYH02001853;NR_051960 Hs.576460 FAL1;LINC00568;ncRNA-a1 APPROVED ncrna ENSG00000228126 HGNC:43713 VALIDATED 1348169 FAIM2 Fas apoptotic inhibitory molecule 2 INVOLVED IN regulation of neuron apoptotic process; cerebellar granular layer development (ortholog); cerebellar Purkinje cell differentiation (ortholog); PARTICIPATES IN FasL mediated signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane raft; INTERACTS WITH 17beta-estradiol; afimoxifene; beta-carotene 12 12 12 q13 49056734 49093776 - 50260679 50297760 - 49866896 49903977 - 6480464;6484113;8554872 10231032;10535980;12477932;14702039;15489334;16964429;17207965;17635665;17912957;18440869;19079260;19557197;19812171;19851340;20215397;20336406;20816195;20843981;20935630;21935397;21957071;22889921;23924573;24335530;24393375;24621099 23017 B3KR08;F8VV65;F8VZI9;F8W1L3;H0YIR3;Q9BWQ8 AB023167;ABBA01031540;ABBA01031541;ABBA01031542;AC131157;AF190461;AK090728;AK290031;AL707764;AMYH02026450;BC000051;BX647219;CH471111;NM_012306;XM_005268730 AAF06327;AAH00051;ADQ32488;BAA76794;BAF82720;BAG52220;EAW58103;EAW58104;NP_036438;Q9BWQ8;XP_005268787 Hs.567424 1674216;1682021;1700998;1777987;2107069;2150309 A005A36;FAIM2__7619;RH104126;RH92688;WI-15126;WI-16236 KIAA0950;LFG;LFG2;NGP35;NMP35;TMBIM2 OTTHUMP00000242156;OTTHUMP00000242157;OTTHUMP00000242158;OTTHUMP00000242569;OTTHUMP00000242570;lifeguard;neural membrane protein 35;protein lifeguard;protein lifeguard 2;transmembrane BAX inhibitor motif containing 2;transmembrane BAX inhibitor motif-containing protein 2 protein-coding ENSG00000135472 HGNC:17067 09184 604306 VALIDATED 1605493 FAM102A family with sequence similarity 102, member A INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 4-nonylphenol 9 9 9 q34.11 101354088 101394030 - 130702861 130742812 - 127940582 127980533 - 6480464 10737800;12477932;14605097;15164053;23478294;24250222 399665 Q5T9C2;Q69Z06 ABBA01043855;AK058004;AK074108;AL049365;AL157935;AMYH02021701;BC047949;BC137087;BC137088;BC142952;BI008660;CH471090;CN482844;NM_001035254;NM_203305;XM_005251984 AAI37088;AAI37089;BAB84934;CAH10739;EAW87731;EAW87732;EAW87733;NP_001030331;NP_976050;Q5T9C2;XP_005252041 Hs.535972 1735928;1758615;2124803;2170097;2185660 D9S1062E;RH15886;RH66401;SGC32949;SHGC-148931 C9orf132;EEIG1;MGC50853;SYM-3A;bA203J24.7 C230093N12Rik;OTTHUMP00000022216;OTTHUMP00000162379;early estrogen-induced gene 1 protein;sym-3 homolog A protein-coding ENSG00000167106 HGNC:31419 13262 610891 VALIDATED 1602856 FAM104A family with sequence similarity 104, member A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cyclosporin A; paracetamol (ortholog) 17 17 17 q25.1 67786638 67811677 - 71203492 71228533 - 73207353 73232394 - 6480464;8554872 12477932;14702039;15489334;16344560;23443559;24250222;9417904 84923 J3KSI9;J3KT35;J3KT52;J3KT76;Q969W3 ABBA01028870;AC097641;AI926103;AK027681;AK074755;AK304556;AMYH02033958;AMYH02033959;BC011054;BC025238;BG773537;BX537858;BX648968;CH471099;CQ783651;CQ871274;CQ871276;DB265439;HY026689;HY037907;NM_001098832;NM_001289410;NM_001289411;NM_001289412;NM_032837;U92989 AAH11054;AAH25238;BAB55292;BAC11183;BAG65351;CAF86794;CAH56818;CAH56819;EAW89115;EAW89116;NP_001092302;NP_001276339;NP_001276340;NP_001276341;NP_116226;Q969W3 Hs.741276 1788664;1854071;2173733;2174513;5118091 A004R48;G64273;RH18160;RH46289;RH66739 FLJ14775 OTTHUMP00000197844;OTTHUMP00000197845;hypothetical protein LOC84923 protein-coding ENSG00000133193 HGNC:25918 08602 VALIDATED 1320685 FAM103A1 family with sequence similarity 103, member A1 ENCODES a protein that exhibits poly(A) RNA binding; RNA binding; INVOLVED IN 7-methylguanosine mRNA capping; methylation; recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex; FOUND IN mRNA cap binding complex; nucleus; INTERACTS WITH 2-methylcholine; atrazine; copper(2+) sulfate 15 15 15 q25.2 60927219 60931647 - 83654955 83659809 + 82986203 82991057 + 6480464 12477932;15489334;16189514;21145461;22099306;24200467;24816145 83640 Q9BTL3 ABBA01029433;AC022558;AK027095;AL049237;AMYH02030923;BC003627;BC027181;BC112329;BQ002618;CH471188;NM_031452 AAH03627;AAH27181;AAI12330;ABM83275;ABM86479;EAW62434;NP_113640;Q9BTL3 Hs.80624 1680793;2143588;5124267 RH64882;RH65049;STS-N36410 C15orf18;HsT19360;MGC102778;MGC2560;RAM OTTHUMP00000190868;RNMT-activating mini protein;chromosome 6 open reading frame 119;hypothetical protein LOC83640 protein-coding ENSG00000169612 HGNC:31022 12845 614547 VALIDATED 1353979 FAM104B family with sequence similarity 104, member B INTERACTS WITH copper(2+) sulfate; formaldehyde; lithium chloride X X X p11.21 59004694 59022786 - 55169535 55187628 - 55143102 55161281 - 737633;6480464 12477932 15489334;15772651;16344560;19322201;24250222 90736 Q5XKR9 ABBA01069560;ABBA01069561;ABBA01069562;AK000441;AK299935;AK311333;AK311699;AL590240;AMYH02039497;BC000919;BC006406;BC017571;BI850888;BX100076;CH471154;CK004182;DB216586;DC413808;NM_001166699;NM_001166700;NM_001166701;NM_001166702;NM_001166703;NM_001166704;NM_138362;NR_030722;XM_006724611;XM_006724612 AAH00919;AAH06406;AAH17571;BAG61768;EAW93215;EAW93216;EAW93217;EAW93218;NP_001160171;NP_001160172;NP_001160173;NP_001160174;NP_001160175;NP_001160176;NP_612371;Q5XKR9;XP_006724674;XP_006724675 Hs.415414 1853783 WI-21209 CXorf44;FLJ18375;FLJ20434 OTTHUMP00000023394;OTTHUMP00000218059;OTTHUMP00000218060;OTTHUMP00000218061;hypothetical protein LOC90736 protein-coding ENSG00000182518 HGNC:25085 06457 VALIDATED 1603518 FAM102B family with sequence similarity 102, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene diol epoxide I 1 1 1 p13.3 107372915 107451865 + 109102653 109181949 + 108560349 108639327 + 6480464;8554872 12477932;14702039;15146197;16710414;17081983;19322201;8889548 284611 Q5T8I3 ABBA01068351;ABBA01068352;ABBA01068353;AK025203;AK094905;AL160171;AMYH02001698;AMYH02001699;BC127898;BC140863;BC140865;BC150530;BM680063;BQ426065;BX485163;CH471122;CN281555;CR749397;CR936815;NM_001010883 AAI27899;AAI40864;AAI40866;AAI50531;CAH18243;EAW56323;NP_001010883;Q5T8I3 Hs.200230 1652523;1683992;1690810;1719585;1855588;2116541;2142563;2147192;2157291;2166590;2174961;5093084;5122435 A002S12;A006S37;A009F33;AFMb014zb9;D1S2241;D1S3015;G32510;RH123696;RH78437;SHGC-75247;SHGC-75250;SHGC-75259;WI-14396 DKFZp686N01110;DKFZp779B126;SYM-3B OTTHUMP00000012636;OTTHUMP00000200315;hypothetical protein LOC284611;sym-3 homolog B protein-coding ENSG00000162636 HGNC:27637 17339 VALIDATED 1604467 FAM103A2P family with sequence similarity 103, member A2 pseudogene 6 6 6 q27 167738311 167739455 - 166999006 167000173 - 166585518 166586685 - 353267 ABBA01033442;AMYH02014969;NG_005047;Z98049 1680793 RH65049 C6orf119;MGC2560;dJ427A4.2 pseudo HGNC:21234 INFERRED 2303469 FAM106A family with sequence similarity 106, member A INTERACTS WITH levonorgestrel; mercury atom; mercury(0) 17 17 p11.2 18427880 18430160 - 18524566 18526846 - 6480464 12477932;14702039;15489334 80039 Q4KMX7 AC107983;AK021862;AMYH02033116;BC098263;CH471109;NR_026809 BAB13918;EAW94359;EAW94360;Q4KMX7 Hs.674403 5128207 SHGC-149777 FLJ11800 ncrna ENSG00000213077 HGNC:25682 07759 VALIDATED 1604002 FAM105A family with sequence similarity 105, member A INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 5 5 5 p15.2 14604627 14639018 + 14581891 14616289 + 14581782 14616180 + 6480464 12477932;14702039;15489334;17207965;19322201;21890473;22053931;23000965;8125298;8619474;9110174 54491 Q9NUU6 ABBA01020638;AC010627;AC016656;AF052146;AK001989;AK125648;AK222731;AL512750;AMYH02010897;AMYH02010898;BC011524;BX342178;CH471102;NM_019018 AAH11524;ADQ32166;BAA92023;BAD96451;CAC21673;EAX08042;EAX08043;NP_061891;Q9NUU6 Hs.155085 1713375;2167744;5118802 D11S3665;RH119542;RH48809 FLJ11127;FLJ43660;NET20 OTTHUMP00000161688;hypothetical protein LOC54491;inactive ubiquitin thioesterase FAM105A protein-coding HGNC:25629 07733 VALIDATED 1604137 FAM106B family with sequence similarity 106, member B 17 p11.2 20320763 20321272 + 11997339;14639526;16625196 100996259 A6NHU5 AC015818;AMYH01008239;BK001591;XM_003846279;XM_003960667 A6NHU5;XP_003846327;XP_003960716 protein-coding ENSG00000205217 HGNC:32450 MODEL 6480998 FAM106DP family with sequence similarity 106, member D, pseudogene 17 17 58250683 58251177 + 60173322 60173816 + 100874406 ABBA01035417;AC025048;AMYH02033721;NG_032201 FAM106D pseudo HGNC:38397 INFERRED 1605660 FAIM Fas apoptotic inhibitory molecule The protein encoded by this gene protects against death receptor-triggered apoptosis and regulates B-cell signaling and differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 3 3 3 q22.3 136752476 136777527 + 138327542 138352218 + 138608700 138633376 + 6480464 10075978;12107411;12477932;14702039;15489334;16341674;17912957;17942717;19592656;19913121;20628086;20693673;21890473;23138182;24305822;25015289;8889548 55179 C9JDZ2;Q9NVQ4 ABBA01059090;ABBA01059091;AC020890;AK001444;AK125477;AMYH02007770;BC012478;BM469375;BM738750;BQ638715;BU738945;CH471052;CR457122;NG_029625;NM_001033030;NM_001033031;NM_001033032;NM_018147 AAH12478;ABM82508;ABM85702;BAA91695;BAC86174;CAG33403;EAW79057;EAW79058;EAW79059;NP_001028202;NP_001028203;NP_001028204;NP_060617;Q9NVQ4 Hs.173438 5015619;5492037 BE112969;D11S3114 FAIM1 OTTHUMP00000216874;OTTHUMP00000216875;OTTHUMP00000216876;OTTHUMP00000216877;OTTHUMP00000216878;OTTHUMP00000216879;fas apoptotic inhibitory molecule 1 APPROVED protein-coding ENSG00000158234 HGNC:18703 16874 REVIEWED 1346416 FAM107B family with sequence similarity 107, member B INVOLVED IN sensory perception of sound (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 5-fluorouracil 10 10 10 p13 14488586 14744941 - 14560556 14816896 - 14518557 14774897 - 6480464;8554872 11076863;11230166;12477932;15164054;15489334;15489336;16169070;16344560;16381901;16385451;19322201;19913121;20360068;20379614;20628086;22825356;23824909;24816145 83641 C9J3Q3;C9J6N5;C9J6Y8;C9JP05;C9JQ40;C9JW51;C9JYP1;F8WCJ2;F8WDH7;Q9H098;X6RET8 ABBA01034606;ABBA01034607;ABBA01034608;ABBA01034609;ABBA01034610;AC069544;AK024648;AK074275;AK127413;AK289959;AL136885;AL139405;AL157706;AL158168;AMYH02022198;AMYH02022199;AMYH02022200;AMYH02022201;AMYH02022202;BC004872;BC064407;BC072452;BC144707;CH471072;CR533466;DA269906;DA305421;DA390740;DA409460;DA412617;DA543225;DA813465;DA954468;DC327230;NM_001282695;NM_001282696;NM_001282697;NM_001282698;NM_001282699;NM_001282700;NM_001282701;NM_001282702;NM_001282703;NM_031453;XM_005252616 AAH04872;AAH64407;AAH72452;BAC86966;BAF82648;CAB66819;CAG38497;CAL38476;EAW86268;EAW86269;EAW86270;EAW86271;NP_001269624;NP_001269625;NP_001269626;NP_001269627;NP_001269628;NP_001269629;NP_001269630;NP_001269631;NP_001269632;NP_113641;Q9H098;XP_005252673 Hs.446315 1649178;1682632;1688454;1709206;1730399;1749117;1757877;1768435;1779904;1848569;1857916;2137537;2186867;5093908 A009Y39;D10S2207;D10S234E;G17471;G32994;RH15693;RH45961;RH66346;RH81002;RH91603;SHGC-110797;SHGC-146750;SHGC-154110;SHGC-85782 C10orf45;FLJ45505;MGC11034;MGC90261 OTTHUMP00000216257;chromosome 10 open reading frame 45;hypothetical protein LOC83641 protein-coding ENSG00000065809 HGNC:23726 12575 VALIDATED 1604738 FAM109B family with sequence similarity 109, member B ENCODES a protein that exhibits protein homodimerization activity; INVOLVED IN endosome organization; receptor recycling; retrograde transport, endosome to Golgi; FOUND IN clathrin-coated vesicle; early endosome; recycling endosome; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; valproic acid 22 22 22 q13.2 26276457 26281644 + 42470255 42475445 + 42074251 42079441 + 6480464 10591208;12477932;15461802;15489334;18029348;20133602;21233288 150368 B1AHR3;Q6ICB4 ABBA01055661;AMYH02038454;BC029776;BC104175;BC104176;BX648402;CH471095;CR456454;NM_001002034;XM_005261373;Z82192;Z99716 AAH29776;AAI04176;AAI04177;ACE86939;ACE87627;CAG30340;CAK54435;CAK54734;EAW60487;NP_001002034;Q6ICB4;XP_005261430 Hs.368312 DKFZp686J07229;IPIP27B;MGC125831;MGC125832;Ses2 27 kDa inositol polyphosphate phosphatase interacting protein B;OTTHUMP00000199675;OTTHUMP00000199676;hypothetical protein LOC150368;sesquipedalian-2 protein-coding ENSG00000177096 HGNC:27161 17305 614240 VALIDATED 3302126 FAM106CP family with sequence similarity 106, member C, pseudogene INTERACTS WITH cadmium atom 17 17 17 p11.2 93 1851 + 16692057 16693815 + 16788743 16790501 + 6480464 12477932;16625196 100129396 P0CH98 AC098850;AMYH02033081;BC098294;BC098363;DN989334;NR_026810 P0CH98 Hs.712114 5128207 SHGC-149777 FAM106C;MGC120421;MGC120423 APPROVED pseudo HGNC:38396 VALIDATED 3516335 FAM108A11P family with sequence similarity 108, member A11, pseudogene 1 q21.1 146075482 146080247 + 100289252 AL049742;NG_023020 pseudo HGNC:38511 1602835 FAM109A family with sequence similarity 109, member A This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 12 12 12 q24.12 111424946 111433416 - 111798455 111806925 - 111360651 111369121 - 6480464 12477932;14702039;15489334;16344560;20133602;21233288;21900206;24250222 144717 F8VZK7;F8W0V2;G3V0F1;Q8N4B1 ABBA01019887;AC005805;AK056918;AK093052;AK299344;AMYH02027204;BC014091;BC018996;BC034809;CH471054;CX758147;CX785083;DA707326;DB055268;NG_021347;NM_001177996;NM_001177997;NM_144671;XM_006719257 AAH14091;AAH34809;BAB71310;BAC04036;BAG61345;EAW97950;NP_001171467;NP_001171468;NP_653272;Q8N4B1;XP_006719320 Hs.173088 1664725 WI-17428 FLJ32356;IPIP27A;SES1 27 kDa inositol polyphosphate phosphatase-interacting protein A;OTTHUMP00000241515;OTTHUMP00000241518;sesquipedalian-1 APPROVED protein-coding ENSG00000198324 HGNC:26509 08127 614239 REVIEWED 1605314 FAM110B family with sequence similarity 110, member B ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 8 8 8 q12.1 54900251 55055401 + 58907068 59062277 + 57994509 58149718 + 6480464;8554872 12477932;14702039;17207965;17499476;18029348;19240061;19322201;20360068;20379614;20889312;21919029;23455922;24165912;8619474;9110174 90362 B3KRT5;Q8TC76 ABBA01041784;ABBA01041785;AC027698;AC104350;AC110013;AK023658;AK026141;AK092221;AMYH02018029;AMYH02018030;AY937246;BC024294;CH471068;DQ431182;NM_147189;U79298;XM_005251324;XM_005251325;XM_005251326 AAB50224;AAH24294;AAX28928;ABD92774;ADQ32245;BAG52497;EAW86801;EAW86802;NP_671722;Q8TC76;XP_005251381;XP_005251382;XP_005251383 Hs.154652 1646061;1676240;1735782;1752033;1763905;1771195;1772040;1778678;1786846;2149287;2153005;5092860 A009B09;D8S1376E;D8S1396E;D8S1957;D8S2098;D8S2125;G32375;RH68613;RH91772;SHGC-106001;SHGC-147570;SHGC-172467 C8orf72;MGC39325 OTTHUMP00000226349;hypothetical protein LOC90362 protein-coding ENSG00000169122 HGNC:28587 14609 611394 VALIDATED 1602464 FAM110D family with sequence similarity 110, member D INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene (ortholog); choline (ortholog) 1 1 1 p36.11 24882208 24885816 + 26485511 26489119 + 26159020 26162628 + 6480464 12477932;14702039;16344560 79927 Q8TAY7 ABBA01034899;AK024112;AK290715;AL391650;AMYH02000555;AU119858;BC025658;CH471059;NM_024869;XM_005246002 AAH25658;BAB14829;BAF83404;EAX07844;NP_079145;Q8TAY7;XP_005246059 Hs.694119 FLJ14050;GRRP1;RP11-96L14.5 OTTHUMP00000008763;glycine/arginine rich protein 1;glycine/arginine-rich protein 1 APPROVED protein-coding ENSG00000197245 HGNC:25860 07848 VALIDATED 1606517 FAM111A family with sequence similarity 111, member A ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN DNA replication; negative regulation of viral genome replication; ASSOCIATED WITH Abnormality of the medullary cavity of the long bones (inferred); Anemia (inferred); Aniridia (inferred); FOUND IN chromatin; cytoplasm; nucleus; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 11 11 11 q12.1 56269419 56281613 + 58910219 58922512 + 59142845 59155039 + 6480464;8699517;7240710;8554872 11572484;12477932;14702039;15489334;16344560;19850743;21139048;21906983;22505724;23000965;23093934;23684011;23996431;24561620;24816145 63901 E9PNQ0;E9PR18;Q96PZ2 AB067482;ABBA01021495;AK025319;AK026447;AK092061;AK092237;AK092953;AK130799;AK291453;AMYH02024862;AP001258;BC013137;BC041693;BC054515;BC071759;BQ420366;BU428612;CH471076;CR747277;CR749358;DA502464;DB218857;NM_001142519;NM_001142520;NM_001142521;NM_022074;NM_198847 AAH13137;AAH54515;AAH71759;BAB15486;BAB67788;BAF84142;CAH18211;EAW73834;EAW73835;EAW73836;EAW73837;NP_001135991;NP_001135992;NP_001135993;NP_071357;NP_942144;Q96PZ2 Hs.150651 1732235;1772623;2159819 D11S1809;NIB2064;WI-15462 DKFZp686A06175;FLJ22794;GCLEB;KCS2;KIAA1895 OTTHUMP00000235598;OTTHUMP00000235599;OTTHUMP00000235600;OTTHUMP00000236013;OTTHUMP00000236014;hypothetical protein LOC63901 protein-coding ENSG00000166801 HGNC:24725 07015 127000;602361;615292 VALIDATED 1318939 FAM110A family with sequence similarity 110, member A FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; copper(2+) sulfate 20 20 20 p13 910641 923209 + 814354 826922 + 833697 846279 + 6480464 11780052;12477932;15489334;16344560;17474147;17499476;20360068;21900206;21988832;23251661;23455922 83541 Q9BQ89;V9GZ26 AB196290;ABBA01053760;AK314165;AL118502;AL530841;AMYH02036562;BC004222;BC012800;BC022238;BI909768;BI909945;BI911808;BI916595;CH471133;CN425669;CR993727;CR997106;CX753944;DA915382;DQ431181;HY035293;NM_001042353;NM_001289145;NM_001289146;NM_001289147;NM_031424;NM_207121 AAH04222;AAH12800;AAH22238;ABD92773;BAD77807;BAG36849;EAX10655;EAX10656;NP_001035812;NP_001276074;NP_001276075;NP_001276076;NP_113612;NP_997004;Q9BQ89 Hs.574822 1689358;1691116;2160285;5094086 G34964;RH67480;RH76710;WI-17015 C20orf55;F10;MGC2450;MGC4675;bA371L19.3 OTTHUMP00000029942;OTTHUMP00000029943;OTTHUMP00000029944;OTTHUMP00000029945;chromosome 20 open reading frame 55;hypothetical protein LOC83541 protein-coding ENSG00000125898 HGNC:16188 12775 611393 VALIDATED 1642210 FAM108A3 family with sequence similarity 108, member A3 q21.1 16710414 653401 AL049742;NG_011737 C1orf47;FAM108A2 pseudo HGNC:33538 1606851 FAM110C family with sequence similarity 110, member C ENCODES a protein that exhibits alpha-tubulin binding; INVOLVED IN positive regulation of cell migration; positive regulation of protein kinase B signaling; regulation of cell projection assembly; FOUND IN cell cortex; INTERACTS WITH 17beta-estradiol; afimoxifene; all-trans-retinoic acid 2 2 2 p25.3 95571 103345 - 38814 47042 - 38814 46599 - 6480464 17499476;19698782;21130836;21988832;23455922 642273 Q1W6H9 ABBA01035628;AC097643;AK302544;AL137761;AMYH02003157;DQ431183;NM_001077710;XM_006711892;XR_426958 ABD92775;BAG63816;NP_001071178;Q1W6H9;XP_006711955 Hs.8379 1668486;2114291 D2S2621;D2S2851 OTTHUMP00000199834 protein-coding ENSG00000184731 HGNC:33340 611395 VALIDATED 1603483 FAM111B family with sequence similarity 111, member B This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014] 11 11 11 q12.1 56233756 56253989 + 58874658 58894888 + 59107185 59127415 + 6480464;8699517;7240710;8554872 11181995;12477932;15489334;21139048;21890473;21906983;21963094;22645275;22814378;23000965;24268661;8889548 374393 E9PS27;Q6SJ93 ABBA01021495;AK303520;AK304258;AMYH02024862;AP001258;AY457926;BC005998;BC062456;BC130513;BC130539;BC144078;BG613098;BM674379;CH471076;DC353500;NG_034129;NM_001142703;NM_001142704;NM_198947 AAH62456;AAI30514;AAI30540;AAR20839;ADR83393;BAG64548;BAG65124;EAW73833;NP_001136175;NP_001136176;NP_945185;Q6SJ93 Hs.186579 1668726;1737763;2112106;2114260 D11S3360;D11S4753;RH64972;SHGC-33522 CANP OTTHUMP00000235596;OTTHUMP00000235597;OTTHUMP00000236012;POIKTMP;cancer-associated nucleoprotein;hypothetical protein LOC374393 protein-coding ENSG00000189057 HGNC:24200 07096 615584;615704 REVIEWED 1606191 FAM114A1 family with sequence similarity 114, member A1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-fluorouracil; copper(2+) sulfate 4 4 4 p14 39307544 39385485 + 38869354 38947365 + 38867733 38945744 + 6480464;8554872 12477932;14702039;15489334;16344560;17029606;19913121;20379614;20628086;21139048;21890473;22863883;23000965;23652523;23817571 92689 D6R9C9;Q8IWE2 ABBA01004115;ABBA01004116;ABBA01004117;AC108044;AK057713;AK094179;AK292831;AK296859;AK304050;AK308959;AMYH02009040;BC001096;BC040452;BC041559;BX640862;CH471069;CS185639;DA802033;NM_138389;NR_033290;XM_005262672;XM_005262673;XM_006714033 AAH01096;AAH40452;BAF85520;BAG52837;BAG59423;BAG64960;CAE45923;CAJ42820;EAW92903;EAW92904;NP_612398;Q8IWE2;XP_005262729;XP_005262730;XP_006714096 Hs.476517 1649953;1695688;1724583;1762641;1766021;2118967;2145764;2145766;2182704;2187271;5022578;5037552 A006G10;D1S1423;D4S3311;D8S2279;G20780;RH121288;SHGC-146446;SHGC-149410;SHGC-50200;SHGC-59565;SHGC-78730;STS-Z41075 FLJ33151;Noxp20 OTTHUMP00000158735;OTTHUMP00000218193;nervous system over expressed protein 20;nervous system over-expressed protein 20;nervous system overexpressed protein 20 protein-coding ENSG00000197712 HGNC:25087 11282 VALIDATED 2293906 FAM115D family with sequence similarity 115, member D (pseudogene) 7 7 7 q35 138605569 138611970 - 143504860 143512482 + 143807767 143815389 + 9847074 653691 AC099548;AMYH02016971;BG748361;CB046449;CH236959;NR_110549 Hs.632030 1649429;1757589;1786208 SHGC-106890;SHGC-145054;WI-12643 FAM139B pseudo HGNC:33603 VALIDATED 1641972 FAM115B family with sequence similarity 115, member B (pseudogene) INTERACTS WITH ciglitazone 7 7 7 q35 8 6645 + 143295130 143306072 + 143598037 143608979 + 6480464 12853948 653199 AC073264;CH236959;NG_008224 1643760;1720221;1760731;1857008;2179685 D7S2642;RH123859;RH15814;SHGC-144254;STS-R17001 pseudo HGNC:33604 INFERRED 1317004 FAM117B family with sequence similarity 117, member B INTERACTS WITH arsane; arsenic atom; arsenous acid 2 2 2 q33.2 197252014 197387230 + 203499901 203634480 + 202635178 202769757 + 6480464 11586298;12477932;14702039;15146197;18029348;19322201;23382044;23443559;23602568;24097068 150864 Q6P1L5;Q7Z3M2 AB053315;ABBA01062581;ABBA01062582;ABBA01062583;ABBA01062584;ABBA01062585;ABBA01062586;ABBA01062587;ABBA01062588;ABBA01062589;AC009960;AC098831;AI523857;AK025007;AK096090;AMYH02005576;AMYH02005577;AMYH02005578;AMYH02005579;BC021689;BC065010;BC106906;BC106907;BX537704;CH471063;CN397358;NM_173511 AAH65010;AAI06907;AAI06908;AAX76518;AAY24090;BAB69023;BAC04700;CAD97817;EAW70311;EAW70312;NP_775782;Q6P1L5 Hs.471130 1697308;1728755;1728877;1746313;1776071;1776073;2218722;5020944 AF044685;ALS2CR13__4285;G54491;G54492;G64430;RH102151;RH16624;SHGC-33812 ALS2CR13;DKFZp686H01244;FLJ38771 OTTHUMP00000206000;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein;hypothetical protein LOC150864 protein-coding ENSG00000138439 HGNC:14440 12445 VALIDATED 1604587 FAM117A family with sequence similarity 117, member A INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 17 17 17 q21.33 44242675 44296502 - 47787687 47841518 - 49710325 49764156 - 6480464 12477932;15489334;23602568 81558 D6RFX7;D6RJ87;K7ENS5;Q9C073 ABBA01041213;ABBA01041214;ABBA01041215;AC015795;AF123073;AK302376;AMYH02033580;BC037572;BC065199;CH471109;NM_030802 AAH37572;AAH65199;AAK01477;BAH13689;EAW94662;EAW94663;EAW94664;NP_110429;Q9C073 Hs.514308 1336864;1670395;1690256;1759069;1776873;2156427 D17S943;L18203;RH93791;SHGC-2255;STS-AA010209;STS-W37771 C/EBP induced protein;C/EBP-induced protein;OTTHUMP00000220571;OTTHUMP00000220574 protein-coding ENSG00000121104 HGNC:24179 17432 VALIDATED 1605094 FAM107A family with sequence similarity 107, member A INVOLVED IN regulation of cell growth; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; arsenite(3-) 3 3 3 p21.1 58563266 58576915 - 58549841 58613337 - 58564112 58627610 - 6480464;8554872 10564580;10702698;11076863;11230166;11256614;12477932;14702039;15342556;15489334;15489336;16169070;16189514;16344560;16381901;16432833;17213182;17353931;18813805;19787223;20298674;20453842;20709424;22825356;8619474;8889548;9110174 11170 C9JAU5;O95990;Q6IAM1 AB023810;AB023811;ABBA01024378;ABBA01024379;AC116036;AC119424;AF035283;AF089853;AF089854;AK054720;AK055443;AK128791;AK298001;AK316450;AL050264;AMYH02006892;BC010561;BC093012;BM980503;BP212425;BX645008;CH471055;CR457133;DA277819;DB486334;DT216507;EU569833;NM_001076778;NM_001282713;NM_001282714;NM_007177;XM_005264835 AAD16093;AAD16094;AAH10561;ABM82689;ABM85873;ACB71116;BAA82845;BAA83072;BAB70924;BAG51416;BAG54736;BAG60307;BAH14821;CAB43366;CAG33414;CAL38640;EAW65378;EAW65379;EAW65380;EAW65381;NP_001070246;NP_001269642;NP_001269643;NP_009108;O95990;XP_005264892 Hs.506357;Hs.729396 1652991;1667261;1778469;2114416;2138163;2162447 1818;D3S2857E;D3S3406;RH41806;SHGC-77037;SHGC-77047 DRR1;FLJ30158;FLJ45473;TU3A OTTHUMP00000214215;OTTHUMP00000214216;OTTHUMP00000214217;down-regulated in renal cell carcinoma 1;downregulated in renal cell carcinoma;family with sequence similarity 107 member A transcript protein-coding ENSG00000168309 HGNC:30827 09753 608295 VALIDATED 1602499 FAM115A family with sequence similarity 115, member A INTERACTS WITH (+)-catechin; (-)-demecolcine; 17beta-estradiol 7 7 7 q35 138206319 138232497 - 143548461 143599278 - 143851368 143902198 - 6480464 12477932;14702039;15252450;16189514;16196087;16344560;16713569;19615732;21890473;21903422;21906983;21963094;21987572;22053931;22505724;23000965;23443559;24654937;25015289;9847074;9872452 9747 B4DST7;C9J648;C9J9F4;C9JD13;C9K0E7;Q9Y4C2 AB018281;ABBA01000972;AC004742;AC099548;AF086218;AF119896;AK001640;AK291605;AK294312;AK299911;AMYH02016974;AMYH02016975;BC000609;BC039457;BU947884;CH236959;CH878732;DA196926;DA317873;DQ786274;NM_001206938;NM_001206941;NM_014719;XM_005250074;XM_005250075;XM_005250076;XM_005250077;XM_006716190;XM_006716191;XM_006716192;XM_006716193 AAF69650;AAH00609;AAQ96852;AAQ96853;BAA34458;BAF84294;BAG61749;BAH11732;EAW55623;NP_001193867;NP_001193870;NP_055534;Q9Y4C2;XP_005250131;XP_005250132;XP_005250133;XP_005250134;XP_006716253;XP_006716254;XP_006716255;XP_006716256 Hs.735149;Hs.744048 1643760;1760731;1857008;2176721;2179685 D7S2642;RH15814;SHGC-144254;SHGC-57068;STS-R17001 FLJ56782;KIAA0738 OTTHUMP00000212429;OTTHUMP00000212430;hypothetical protein LOC9747 protein-coding ENSG00000198420 HGNC:22201 13813 VALIDATED 1603511 FAM115C family with sequence similarity 115, member C INVOLVED IN hematopoietic progenitor cell differentiation (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; disodium selenite 7 7 7 q35 138603155 138611956 - 143318045 143427173 + 143620952 143730080 + 6480464 12477932;14702039 285966 A6NFQ2;H0YC74;Q8N1I1 ABBA01000151;AC073264;AC106862;AK090395;AK098041;AK296318;AL832734;AMYH02016962;AMYH02016963;AMYH02016964;AMYH02016965;AMYH02016966;AMYH02016967;AMYH02016968;AY167570;BC113530;BC117233;CH236959;CH471314;CN479606;DC299572;DC402602;NM_001130025;NM_001130026;NM_173678;XM_006715927;XM_006715928 A6NFQ2;AAI13531;AAI17234;AAN87343;ACE86678;ACE87363;ADR83345;ADR83386;BAC03376;BAC05220;BAG59014;EAL23793;EAW50491;NP_001123497;NP_001123498;NP_775949;XP_006715990;XP_006715991 Hs.743565 5021564 G02278 FAM139A;FLJ40722;MGC142090 OTTHUMP00000203463;OTTHUMP00000203466;OTTHUMP00000208854;OTTHUMP00000208855;OTTHUMP00000227963;family with sequence similarity 139, member A;hypothetical protein LOC285966 protein-coding ENSG00000170379 HGNC:26878 07117 VALIDATED 1313342 FAM114A2 family with sequence similarity 114, member A2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 5 5 5 q31-q33 149446797 149494029 - 153369723 153418497 - 153990148 154038937 - 6480464;8554872 10843801;12477932;14702039;15489334;16344560;19322201;21139048;21145461;21832049;23000965;24816145;8125298 10827 E5RFK2;E5RGF9;E5RH43;E5RHI8;E5RHP2;E5RIK7;E5RK42;E7ESJ7;I6L9D5;Q9NRY5 ABBA01026241;AC010232;AF159700;AK024664;AK095446;AK225821;AK298943;AK303865;AK313331;AMYH02012499;BC011414;BC050701;CH471062;DA351656;KC877139;NM_018691;XM_005268359;XM_005268360;XM_005268361 AAF76523;AAH11414;AAH50701;BAB14952;BAG36135;BAG53056;BAG61042;BAG64804;EAW61646;EAW61647;EAW61648;NP_061161;Q9NRY5;XP_005268416;XP_005268417;XP_005268418 Hs.166551 2139234 RH18369 133K02;C5orf3 OTTHUMP00000160642;OTTHUMP00000224244;OTTHUMP00000224245;OTTHUMP00000224246;hypothetical protein LOC10827 protein-coding ENSG00000055147 HGNC:1333 12831 VALIDATED 1603013 FAM118B family with sequence similarity 118, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; cyclosporin A 11 11 11 q24.2 123246927 123297903 + 126081619 126132879 + 126211724 126262984 + 6480464;8554872 12477932;16169070;16712791;17207965;21139048;21900206;21906983;24250222;24569877;24816145;8125298 79607 E9PIM5;E9PMJ2;E9PMW3;G3V179;J3KP39;Q9BPY3 ABBA01031226;ABBA01031227;ABBA01031228;ABBA01031229;AK024756;AK225081;AK315615;AMYH02025744;AMYH02025745;AP000717;AP001318;AP001893;BC001340;BC001647;BF448999;CB141933;CH471065;CR457334;NG_017156;NM_024556;XM_005271665;XM_005271666 AAH01340;AAH01647;ADQ32755;BAB14987;CAG33615;EAW67677;EAW67678;EAW67679;EAW67680;NP_078832;Q9BPY3;XP_005271722;XP_005271723 Hs.276315 1298323;1700242;1706304;1725575;2121376;2129825;2139852;2155695;2164674;2164676;2177408;7186273 A006D25;A007K32;D11S4607;D11S4694;D11S934;G20723;G62012;RH103738;RH18082;SHGC-80709;WI-20438 FLJ21103 OTTHUMP00000231048;OTTHUMP00000231049;OTTHUMP00000231050;OTTHUMP00000231105;hypothetical protein LOC79607 protein-coding ENSG00000197798 HGNC:26110 07952 VALIDATED 1349056 FAM120AOS family with sequence similarity 120A opposite strand INTERACTS WITH atrazine 9 9 9 q22.31 66650228 66657322 - 96208776 96215874 - 93446494 93453592 - 6480464 12477932;14585507;14702039;19322201 158293 E5RJ17;E9PCY8;Q5T036;Q5T040 ABBA01018612;ABBA01018613;AK056096;AK093641;AK309269;AL353629;AL583839;AMYH02021237;AMYH02021238;BC037551;BC038803;BC046183;BC063650;BC080634;BC107135;BC107136;BC113074;CH471089;NM_198841;XM_005251736 AAI60143;BAG51623;EAW62862;NP_942138;Q5T036;XP_005251793 Hs.350364;Hs.709859 1661653;1664934;1735864;2167717 A004Y35;D9S992E;RH18179;SHGC-31180 C9orf10OS;FLJ31534 OTTHUMP00000021679;putative FAM120A opposite strand protein protein-coding ENSG00000188938 HGNC:23389 12931 VALIDATED 1602826 FAM124A family with sequence similarity 124A INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene 13 13 13 q14.3 32845687 32904794 + 51796470 51858377 + 51222334 51284241 + 6480464 12477932;12975309;14702039;16189514;20379614;23602568;8889548 220108 Q6UXW9;Q86V42 ABBA01051045;ABBA01051046;AK055269;AK056643;AK096364;AL157817;AMYH02028029;AY358177;BC034497;BC051771;BG771560;BM931534;BX109426;CH471075;DB549067;NM_001242312;NM_145019 AAH34497;AAH51771;AAQ88544;ADZ15863;BAB70894;BAC04769;EAX08867;EAX08868;NP_001229241;NP_659456;Q86V42 Hs.71913;Hs.737490 1708586;1730938;1731667;1854935;2111342;2111660;2137486;2138726;2170306;5037552 D13S1583;D13S228;D13S295;D13S819E;D8S2279;RH47337;RH48284;RH48338;SHGC-85082;WI-14347 FLJ30707;FLJ32081 OTTHUMP00000018438;OTTHUMP00000178643;hypothetical protein LOC220108 protein-coding ENSG00000150510 HGNC:26413 08704 VALIDATED 1321149 FAM122A family with sequence similarity 122A INTERACTS WITH atrazine; copper(2+) sulfate; genistein 9 9 9 q21.11 41990151 41993796 + 71394964 71398609 + 68780048 68783693 + 737633;6480464 12477932 12107410;14702039;15164053;15489334;17081983;17207965;19156129;20383146;21044950;21832049;24250222 116224 B3KX07;Q96E09 AA418448;ABBA01033794;AK126379;AL354794;AMYH02020926;BC013062;BE778779;BI757526;CA390009;CD517474;CH471089;H54102;NM_138333 AAH13062;ADQ31865;BAG54319;EAW62468;NP_612206;Q96E09 Hs.655572 1663832;1722311;1773960;5093462 A009P17;G32732;G60071;WIAF-1634 C9orf42;MGC17347 OTTHUMP00000021421;hypothetical protein LOC116224 protein-coding HGNC:23490 10074 VALIDATED 1321130 FAM120B family with sequence similarity 120B INVOLVED IN cell differentiation (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; cisplatin 6 6 6 q27 171413409 171510239 + 170615812 170716155 + 170290703 170407071 + 6480464;8554872 11347906;12477932;14585507;14702039;16189514;17353931;17595322;20379614;21145461;21890473;21980299;21988832;22797925;24163370;24250222 84498 B4DG54;B4DSS4;F5GY05;Q96EK7 AB058741;ABBA01030854;ABBA01030855;ABBA01030856;AC239411;AJ420589;AK056435;AK294415;AK296730;AK296825;AK299890;AL008628;AL078605;AL832883;AMYH02015012;AMYH02015013;AY266458;BC012177;CH471051;DQ873695;NM_001286379;NM_001286380;NM_001286381;NM_032448;XM_006715579;XM_006715580;XM_006725015;XM_006725016;XR_427974;XR_430667 AAH12177;AAP31032;ABH09086;BAB47467;BAG57665;BAG59317;BAG59396;BAG61736;EAW47424;NP_001273308;NP_001273309;NP_001273310;NP_115824;Q96EK7;XP_006715642;XP_006715643;XP_006725078;XP_006725079 Hs.369522 1645547;1652827;1661274;1687269;1695194;1785942;2111121;2128977;2168130 AL031508;D6S1244E;D6S1330;D6S1887;D6S374E;G48238;RH79752;SHGC-144156;WIAF-2186 CCPG;FLJ55614;KIAA0183;KIAA1838;PGCC1;dJ894D12.1 OTTHUMP00000017693;OTTHUMP00000017694;PPARG constitutive coactivator 1;PPARgamma constitutive coactivator 1;constitutive coactivator of PPAR-gamma;constitutive coactivator of PPARG;constitutive coactivator of peroxisome proliferator-activated receptor gamma protein-coding ENSG00000112584 HGNC:21109 11165 612266 VALIDATED 1603035 FAM120C family with sequence similarity 120C This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] X X X p11.22 57925992 58040942 - 54094757 54209714 - 54068324 54183281 - 6480464 12477932;14585507;14702039;15489334;16009940;17000644;18498374;24654937 54954 F8W881;Q9NX05 ABBA01069665;ABBA01069666;ABBA01069667;ABBA01069668;ABBA01069669;ABBA01069670;ABBA01069671;ABBA01069672;ABBA01069673;ABBA01069674;ABBA01069675;ABBA01069676;ABBA01069677;ABBA01069678;ABBA01069679;ABBA01069680;ABBA01069681;ABBA01069682;ABBA01069683;ABBA01069684;ABBA01069685;AK000513;AK125664;AL589872;AMYH02039482;AMYH02039483;AMYH02039484;AMYH02039485;AMYH02039486;AY121803;AY150025;BC016138;BC073166;BC081532;BC136413;BC144081;BQ270974;BX956082;KF459110;KF459119;NG_021316;NM_001300788;NM_017848;NM_198456;XM_005262021;XM_006724589;Z84469 AAH16138;AAH81532;AAI36414;AAM82751;AAO24121;BAA91219;NP_001287717;NP_060318;NP_940858;Q9NX05;XP_005262078;XP_006724652 Hs.86045 1338983;1773176;7186468 AL031093;DXS1204 CXorf17;FLJ20506;FLJ43676;ORF34 OTTHUMP00000023368;OTTHUMP00000214810;OTTHUMP00000214811;constitutive coactivator of PPAR-gamma-like protein 2;tumor antigen BJ-HCC-21 APPROVED protein-coding ENSG00000184083 HGNC:16949 06480 300741 REVIEWED 1605854 FAM122C family with sequence similarity 122C INTERACTS WITH ethyl methanesulfonate; fonofos; formaldehyde X X X q26.3 134317202 134375405 + 133930443 133989149 + 134796413 134855119 + 6480464 12477932;14702039;15489334;15772651;17207965;22118674 159091 B3KQY3;B4DI96;D3DTG4;Q6P187;Q6P4D5 ABBA01042486;ABBA01042487;ABBA01042488;ABBA01042489;ABBA01042490;ABBA01042491;ABBA01042492;ABBA01042493;ABBA01042494;AK090611;AK130840;AK295485;AK307219;AK310079;AL691477;AMYH02040532;AMYH02040533;AMYH02040534;AW269988;BC016784;BC017868;BC063491;BC065225;BG532414;CH471107;DB458889;NG_016383;NM_001170779;NM_001170780;NM_001170781;NM_001170782;NM_001170783;NM_001170784;NM_138819;XM_005262382;XM_005262383;XM_005262384;XM_005262385;XM_005262386;XM_005262387;XM_006724734;XM_006724735;XM_006724736;XM_006724737;XR_430543;Z83826 AAH17868;AAH63491;AAH65225;ADQ32539;BAG52195;BAG58408;EAX11745;EAX11746;EAX11747;EAX11748;NP_001164250;NP_001164251;NP_001164252;NP_001164253;NP_001164254;NP_001164255;NP_620174;Q6P4D5;XP_005262439;XP_005262440;XP_005262441;XP_005262442;XP_005262443;XP_005262444;XP_006724797;XP_006724798;XP_006724799;XP_006724800 Hs.269127 1689955;1691546;1702786;1854888;2147092;2184671;5016596;5020274;5022578;5037552 AF026403;AL032561;D1S1423;D8S2279;DXS901;GDB:631802;L18441;RH92636;SHGC-37643;SHGC-7545 RP3-473B4.1 OTTHUMP00000024325;hypothetical protein LOC159091 protein-coding ENSG00000156500 HGNC:25202 06615 VALIDATED 1605855 FAM122B family with sequence similarity 122B INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; cadmium atom X X X q26.3 134290355 134318021 - 133903596 133931262 - 134769566 134797232 - 6480464 11076863;11230166;12477932;14702039;15146197;15489334;15489336;15772651;16381901;16964243;18029348;19471022;19615732;22127701;24250222;24816145 159090 B4DN12;G1UD79;G1UD80;Q7Z309 AA976209;AB541014;AB541015;ABBA01042481;ABBA01042482;ABBA01042483;ABBA01042484;ABBA01042485;ABBA01042486;AK026809;AK124650;AK124940;AK125991;AK292517;AK297720;AL672032;AL691477;AL832218;AMYH02040531;AMYH02040532;BC019221;BC032419;BC110846;BX538218;CH471107;CN303065;CN419432;NG_016348;NM_001166599;NM_001166600;NM_001170756;NM_001170757;NM_145284;XM_006724730;XM_006724731;XM_006724732;XM_006724733 AAH19221;AAH32419;AAI10847;BAC85918;BAC85999;BAC86380;BAF85206;BAG60074;BAK74736;BAK74737;CAD98073;CAL38157;EAX11749;EAX11750;EAX11751;EAX11752;EAX11753;EAX11754;EAX11755;NP_001160071;NP_001160072;NP_001164227;NP_001164228;NP_660327;Q7Z309;XP_006724793;XP_006724794;XP_006724795;XP_006724796 Hs.404706 1702600;1748199;1854888;1858126 DXS6848;G66698;RH46423;SHGC-7545 DKFZp686L20116;MGC131814;RP11-308B5.5;SPACIA2 OTTHUMP00000024067;OTTHUMP00000215087;synoviocyte proliferation associated in collagen-induced arthritis 2 protein-coding ENSG00000156504 HGNC:30490 06614 VALIDATED 1315374 FAM120A family with sequence similarity 120A ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; membrane; INTERACTS WITH 2-methylcholine; atrazine; cobalt dichloride 9 9 9 q22.31 66655621 66769844 + 96214173 96328397 + 93451696 93566115 + 6480464;8554872 12477932;14585507;14702039;15164053;15489334;15592455;15782174;16964243;17081983;17110338;18029348;19015244;19946888;20020773;20360068;20379614;21139048;21145461;21890473;21906983;21963094;22586326;22952844;23125841;23254330;23443559;24163370;24250222;24457600;24654937;24778252;24816145;25027693;8619474;8724849;8889548;9110174 23196 Q9NZB2 ABBA01018613;ABBA01018614;AF055017;AF214737;AF214738;AK091785;AK096349;AL353629;AMYH02021237;AMYH02021238;AW949787;AY266457;AY450389;AY450393;BC007879;BC034935;BC075701;BC098584;BC111736;BQ020345;BQ421167;BX326996;CA310462;CA419293;CB989774;CD110412;CF135376;CH471089;D80005;NM_001286722;NM_001286723;NM_001286724;NM_014612;R40697;XM_005251842 AAC09364;AAF72866;AAF72867;AAH07879;AAH98584;AAI11737;AAP31031;AAR21082;AAR21086;BAA11500;EAW62863;EAW62864;EAW62865;EAW62866;NP_001273651;NP_001273652;NP_001273653;NP_055427;Q9NZB2;XP_005251899 Hs.372003;Hs.707324;Hs.738743 1341914;1644099;1681696;1722697;1728763;1728779;1728865;1735888;1735904;1762947;1763137;1765877;1771137;2150398;2158975;5037552;5096686 D3S3819;D8S2279;D9S1006E;D9S1045E;D9S197;G54484;G54485;G54486;G60433;RH25397;RH94022;SHGC-146700;SHGC-146868;SHGC-149296;SHGC-54640;WI-15517;WI-22276 C9orf10;DNAPTP1;DNAPTP5;MGC111527;MGC133257;OSSA DNA polymerase-transactivated protein 1;DNA polymerase-transactivated protein 5;OTTHUMP00000021683;constitutive coactivator of PPAR-gamma-like protein 1;oxidative stess-associated Src activator;oxidative stress-associated Src activator protein-coding ENSG00000048828 HGNC:13247 12928 612265 VALIDATED 1345510 FAM118A family with sequence similarity 118, member A ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH diazinon; fonofos; paracetamol 22 22 22 q13 29616648 29649238 + 45705081 45737836 + 45309200 45341955 + 737633;6480464;8554872 12477932 10591208;14702039;15461802;15489334;16344560;19460752;19680542;23824909;24250222;24816145 55007 B0QY26;B0QY27;B0QY28;B0QY29;B4DY02;Q9NWS6 ABBA01007136;AK000642;AK026239;AK125027;AK302205;AL008718;AMYH02038518;AW206534;BC013696;BQ022265;CB961784;CH471138;CR456403;DB153788;DB459223;KF457473;NM_001104595;NM_017911;XM_005261665;XM_005261666;XM_006724272;XM_006724273;XM_006724274;XM_006724275;XM_006724276;XM_006724277 AAH13696;BAA91301;BAG54126;BAG63564;CAG30289;EAW73378;EAW73379;EAW73380;NP_001098065;NP_060381;Q9NWS6;XP_005261722;XP_005261723;XP_006724335;XP_006724336;XP_006724337;XP_006724338;XP_006724339;XP_006724340 Hs.265018 1337292;1647362;1652173;1661151;1676502;1699612;1759427;2162229 D22S1141;G27434;RH103408;RH71148;RH98789;SHGC-150955;STS-T70324;WI-20637 C22orf8;FLJ20635;bK268H5.C22.4 OTTHUMP00000199853;OTTHUMP00000199854;hypothetical protein LOC55007 protein-coding ENSG00000100376 HGNC:1313 07936 VALIDATED 1602681 FAM124B family with sequence similarity 124B INTERACTS WITH copper(2+) sulfate; valproic acid (ortholog) 2 2 2 q36.2 219009190 219032486 - 225243415 225266711 - 224378698 224401994 - 6480464 12477932;16189514;17207965;19060904;19447967;23285124 79843 Q9H5Z6 ABBA01023770;ABBA01023771;ABBA01023772;AC008072;AK026399;AK075126;AMYH02005884;BC025754;CH471063;NM_001122779;NM_024785 AAH25754;AAY14842;ADQ31647;BAB15471;EAW70826;EAW70827;NP_001116251;NP_079061;Q9H5Z6 Hs.147585 FLJ22746 OTTHUMP00000164220;OTTHUMP00000203758;OTTHUMP00000203759;hypothetical protein LOC79843 protein-coding ENSG00000124019 HGNC:26224 08663 VALIDATED 1605824 FAM126B family with sequence similarity 126, member B FOUND IN intracellular; INTERACTS WITH copper(2+) sulfate; coumestrol; cyclosporin A 2 2 2 q33.1 195593067 195691017 - 201838441 201936392 - 200973718 201071671 - 6480464 11256614;12477932;14702039;15302935;15489334;21832049 285172 B3KUG1;C9J115;C9JNS4;C9JTA1;F8W7X4;Q8IXS8 ABBA01062527;ABBA01062528;ABBA01062529;ABBA01062530;AC005037;AC007272;AK001843;AK027168;AK095236;AK097111;AK124184;AK124937;AK315104;AL832234;AL832346;AL833403;AMYH02005543;AMYH02005544;AMYH02005545;BC039295;BC045174;CH471063;NM_173822;XM_005246474;XM_005246475;XM_006712441;XM_006712442;XM_006712443;XM_006712444 AAH39295;AAX88971;AAY14726;ABM82448;ABM85638;BAG37564;BAG53423;BAG54019;EAW70230;EAW70231;EAW70232;NP_776183;Q8IXS8;XP_005246531;XP_005246532;XP_006712504;XP_006712505;XP_006712506;XP_006712507 Hs.24701 1337331;1697326;1728875;1784254;1853794;2158826;2176200;5015961;5037552 D15S1477;D2S309;D8S2279;G54453;RH102160;RH36550;SHGC-172001;SHGC-32390;WI-16424 FLJ10981;FLJ37917;FLJ42947;HYCC2;MGC39518 OTTHUMP00000163723;OTTHUMP00000206416;hypothetical protein LOC285172 protein-coding ENSG00000155744 HGNC:28593 11345 VALIDATED 1604676 FAM127C family with sequence similarity 127, member C INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) X X X q26.3 134541355 134543387 - 134154534 134156924 - 135020504 135022536 - 6480464 12477932;15716091;16093683;21890473;21963094;21987572;23000965;9403077 441518 Q17RB0 ABBA01042517;AI569106;AK098443;AL136169;AMYH02040538;BC048268;BC063496;BC073159;BC086860;BC113720;BC117393;DB490903;NM_001078173 AAI13721;AAI17394;ADR82807;NP_001071641;Q17RB0 Hs.378813 5493429 UniSTS:486192 CXX1c;FLJ25577;MAR8B OTTHUMP00000195547;mammalian retrotransposon derived protein 8B protein-coding ENSG00000212747 HGNC:33156 VALIDATED 736616 FAM129A family with sequence similarity 129, member A INVOLVED IN negative regulation of protein phosphorylation (ortholog); positive regulation of protein phosphorylation (ortholog); positive regulation of translation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; membrane; INTERACTS WITH (S)-nicotine; 5-azacytidine; 8-bromo-3',5'-cyclic AMP 1 1 1 q25 157871147 158054385 - 184760159 184943718 - 184791025 184974586 - 6480464;8554872 11011112;11318611;12477932;14702039;15085203;15489334;16444351;16710414;16949643;18029348;19199708;19240061;19536772;19946888;21520112;21890473;21906983;22157935;22863883;23251661 116496 H0Y7M9;Q9BZQ8 AB050477;ABBA01027728;ABBA01027729;AF288391;AK022527;AK074139;AK095547;AK310557;AK311019;AL096819;AL109865;AL109956;AL136086;AL137572;AMYH02002294;AMYH02002295;AMYH02002296;AMYH02002297;AMYH02002298;AMYH02002299;AMYH02002300;AMYH02002301;AMYH02002302;AMYH02002303;AY550972;BC018532;BC030531;CH471067;DC346827;GN344057;KF455087;KF455121;KF510712;KF510713;NM_052966 AAG60611;AAH30531;AAT52218;BAB14079;BAB17230;BAB84965;CAY55964;EAW91184;EAW91185;NP_443198;Q9BZQ8 Hs.518662 1669923;1692714;1693814;1775695;1779003;2112368;2135851;2184622;5117897 AL009385;AL034118;D1S2525;D1S3635;GDB:631813;RH46175;SHGC-24127;SHGC-56415;SHGC-76048 C1orf24;FLJ38228;GIG39 OTTHUMP00000033399;cell growth inhibiting protein 39;cell growth-inhibiting gene 39 protein;niban protein-coding ENSG00000135842 HGNC:16784 10725 VALIDATED 1606763 FAM126A family with sequence similarity 126, member A The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008] 7 7 7 p15.3 22967200 23040064 - 22980878 23053814 - 22941259 23014195 - 6480464;7240710;8554872;8699517 10910037;12477932;12690205;12853948;14702039;15489334;16344560;16951682;17928815;18029348;20301737;21254220;21911699;22749724;23998934;24024966;24501781 84668 B8ZZA2;B8ZZJ1;H7C0W7;Q9BYI3 AA811006;AB030241;ABBA01056699;AC005682;AC006039;AK054887;AK056319;AK057686;AK297399;AL833296;AMYH02015354;BC018710;BX640757;CH236948;CH471073;DB099987;NG_008392;NM_032581;XM_005249894;XM_005249895;XM_006715799;XM_006715800 AAH18710;AAS01991;AAS07519;ABM82624;ABM86267;BAB39849;BAB70823;BAB71148;BAG59839;CAE45864;EAL24262;EAW93767;EAW93768;NP_115970;Q9BYI3;XP_005249951;XP_005249952;XP_006715862;XP_006715863 Hs.85603 1298314;1670839;1671396;1675385;1676544;1677238;1752415;1760229;1855594;2137861;2143930;2145552;2157468;2157470 A005A03;D17S1308;D17S695;D7S732;G20254;RH45328;RH91850;RH93616;RH94305;SHGC-106385;SHGC-132520;SHGC-34206;SHGC-36561;STS-H44951 DRCTNNB1A;HCC;HLD5;HYCC1 OTTHUMP00000158548;OTTHUMP00000202016;OTTHUMP00000202017;down regulated by Ctnnb1, a;down-regulated by CTNNB1 protein A;hyccin APPROVED protein-coding ENSG00000122591 HGNC:24587 16837 610531;610532 REVIEWED 1604724 FAM129C family with sequence similarity 129, member C 19 19 19 p13.11 17535726 17566244 + 17634110 17664648 + 17523301 17553839 + 12477932;12886250;14702039 199786 M0QX95;M0QXK3;M0QZV9;M0R0A8;M0R0E0;Q86XR2 AA649002;ABBA01051209;ABBA01051210;ABBA01051211;AC010618;AI688885;AK074069;AK097121;AK298062;AK300046;AK301159;AMYH02035708;AY254197;AY254198;AY254199;BC033225;BC053606;CH471106;NM_001098524;NM_173544;XM_005259813;XM_005259814;XM_006722684;XM_006722685;XM_006722686;XR_244063 AAH53606;AAI67806;AAO83574;AAO83575;AAO83576;BAB84895;BAC04955;BAG60355;BAG61856;BAG62749;EAW84615;EAW84616;EAW84617;EAW84618;EAW84619;EAW84620;NP_001091994;NP_775815;Q86XR2;XP_005259870;XP_005259871;XP_006722747;XP_006722748;XP_006722749 Hs.434133 1340815;1670011;2176058;5015861;5015961;5017433;5020946;7185938 D10S16;D15S1477;D19S429;D19S710;L17971;SHGC-58046;STS-T76997 BCNP1;FLJ39802 B-cell novel protein 1;niban-like protein 2 protein-coding ENSG00000167483 HGNC:24130 16546 609967 VALIDATED 1605421 FAM131B family with sequence similarity 131, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; all-trans-retinoic acid; bisphenol A 7 7 7 q34 137887354 137896064 - 143050493 143079397 - 143353400 143382283 - 6480464;8554872 12477932;12853948;15489334;16344560;20379614;21044950;9872452 9715 D3DXE4;E5RI17;E5RJ60;H0Y3V6;Q86XD5 AB018316;ABBA01034135;AC092214;AC093673;AK124557;AK291470;AL832579;AMYH02016934;BC045611;BC050543;CH236959;CH471198;DA226407;DA334424;NM_001031690;NM_001278297;NM_014690;XM_005250071;XM_005250073;XM_006716186 AAH45611;AAH50543;AAS07501;BAA34493;BAF84159;CAD89938;EAL23787;EAW51853;EAW51854;EAW51855;EAW51856;EAW51857;NP_001026860;NP_001265226;NP_055505;Q86XD5;XP_005250128;XP_005250130;XP_006716249 Hs.648908 2141794;5037744 D1S3694;RH46942 KIAA0773 OTTHUMP00000202226;OTTHUMP00000202492;OTTHUMP00000202493;OTTHUMP00000202494;OTTHUMP00000202495;OTTHUMP00000202496;hypothetical protein LOC9715 protein-coding ENSG00000159784 HGNC:22202 13816 VALIDATED 1606725 FAM131A family with sequence similarity 131, member A FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; 2-methylcholine; 5-aza-2'-deoxycytidine 3 3 3 q27.1 182494613 182504962 + 184053717 184064063 + 184335929 184346275 + 6480464 12477932;12975309;14702039;15489334;16169070;19322201 131408 C9JP51;C9JPT9;C9JY59;Q6UXB0 ABBA01058446;ABBA01058447;ABBA01058448;AC078797;AK024378;AMYH02008305;AY358435;BC026221;BC037299;CA416923;CH471052;DB472337;DB472892;NM_001171093;NM_144635;T74148;XM_005247113;XM_005247114;XM_005247115 AAH26221;AAH37299;AAQ88801;EAW78251;EAW78252;EAW78253;EAW78254;EAW78255;EAW78256;NP_001164564;NP_653236;Q6UXB0;XP_005247170;XP_005247171;XP_005247172 Hs.591307 1671404;1676876;1699826;1777236;2122661;2130023;2134050;2173309;2217302;2217864;5015619;5015861;5020414;5024272;5024761;5037552;5109281;7185938 A001Y48;D10S16;D11S3114;D1S1425;D2S1254;D8S2279;EIF4G1_3109;HSC2IC072;L17688;PSMD2_2761;RH103520;RH36905;RH68199;RH79680;SHGC-77635;STS-Z40751;WI-11757 C3orf40;FLAT715;MGC21688;PRO1378 OTTHUMP00000209469;OTTHUMP00000209471;OTTHUMP00000209472;OTTHUMP00000209473;OTTHUMP00000209474;OTTHUMP00000209475;OTTHUMP00000210576;hypothetical protein LOC131408 protein-coding ENSG00000175182 HGNC:28308 14481 VALIDATED 1603827 FAM132A family with sequence similarity 132, member A ENCODES a protein that exhibits hormone activity (ortholog); INVOLVED IN regulation of glucose import (ortholog); FOUND IN extracellular region (ortholog); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 1 1 1 p36.33 1400244 1405607 + 1177826 1182102 - 1242446 1246722 - 6480464 12477932;21849507;22736092;22942287;24492466 388581 Q5T7M4 ABBA01155188;AL162741;AMYH02000085;AMYH02000086;AW873053;BC089443;NM_001014980 AAH89443;NP_001014980;Q5T7M4 Hs.197613 C1QDC2;C1QTNF12;CTRP12;MGC105127 C1q domain containing 2;C1q/TNF-related protein 12;OTTHUMP00000001516;adipolin;adipose-derived insulin-sensitizing factor;complement C1q tumor necrosis factor-related protein 12;hypothetical protein LOC388581 protein-coding ENSG00000184163 HGNC:32308 VALIDATED 1354377 FAM127A family with sequence similarity 127, member A FOUND IN plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; aflatoxin B1 X X X q26 134553154 134554397 + 134166333 134167576 + 135032303 135033546 + 1580863;6480464 12477932;15489334;15716091;15772651;16093683;16713569;20972266;21139048;21832049;21890473;21906983;21963094;21987572;22053931;23000965;24654937;8619474;9110174;9403077 8933 A6ZKI3;O15255 ABBA01042517;AF038168;AF052096;AL136169;AMYH02040538;BC002385;BC002410;BC106076;CD367165;CH471107;CR456853;CX784259;D88756;NM_001078171;Y13374 A6ZKI3;AAB97361;AAC28618;AAH02385;AAH02410;ABM82310;ABW03433;BAB46920;CAA73804;CAG33134;EAX11739;NP_001071639 Hs.522789 1646514;1681265;5126735 A002L20;Cda0xg09;DXS7503 CXX1;MAR8C;MART8C;MGC117411;Mar8;Mart8 CAAX box 1;OTTHUMP00000024068;mammalian retrotransposon derived protein 8C protein-coding ENSG00000134590 HGNC:2569 02197 300213 VALIDATED 1603403 FAM127B family with sequence similarity 127, member B INTERACTS WITH cobalt dichloride; cyclosporin A; elemental selenium X X X q26.3 134571781 134573040 - 134184962 134186221 - 135050932 135052191 - 6480464 12477932;15146197;15716091;16093683;16169070;16189514;20972266;21139048;21832049;21890473;21906983;21963094;21987572;23000965;24250222;9403077 26071 Q6IPB9;Q9BWD3 ABBA01042519;ABBA01042520;AL117556;AL136169;AMYH02040538;BC000393;BC008096;BC019300;BC071991;BM050811;BU161376;CN367136;CR457123;CR542228;NM_001078172;NM_001134321 AAH00393;AAH19300;AAH71991;CAG33404;CAG47024;NP_001071640;NP_001127793;Q9BWD3 Hs.460924 1668734;1690534;2177732 RH93898;STS-T83641;STS-W87391 CXX1b;DKFZp564B147;MAR8A;MGC8471 OTTHUMP00000195548;mammalian retrotransposon derived protein 8A protein-coding ENSG00000203950 HGNC:24514 06485 VALIDATED 1606908 FAM131C family with sequence similarity 131, member C INTERACTS WITH atrazine; choline (ortholog); folic acid (ortholog) 1 1 1 p36.13 14864163 14877593 - 16384264 16400127 - 16057769 16073632 - 6480464 12477932;14702039;15489334;16189514;16344560;16710414;17207965;19734545;21832049;22623531;24722188 348487 Q96AQ9 ABBA01004682;ABBA01004683;AK094085;AL355994;AL529663;AMYH02000378;BC016848;BC037394;BG751253;CH471167;DA112406;NM_182623;XM_006710615 AAH16848;AAH37394;ADQ31622;BAC04282;EAW51767;EAW51768;NP_872429;Q96AQ9;XP_006710678 Hs.126825 1766417 SHGC-149757 C1orf117;FLJ36766;RP11-5P18.9 OTTHUMP00000011116;hypothetical protein LOC348487 protein-coding ENSG00000185519 HGNC:26717 08779 VALIDATED 1315963 FAM129B family with sequence similarity 129, member B INVOLVED IN negative regulation of apoptotic process; FOUND IN actin cytoskeleton; adherens junction; cytoplasm; INTERACTS WITH 2-methylcholine; bisphenol A; copper(2+) sulfate 9 9 9 q34.13 100918505 100992132 - 130267618 130341268 - 127505338 127579007 - 737633;6480464 12477932 14702039;15146197;15231748;15302935;15489334;16083285;16964243;17081983;19056867;19362540;19615732;20360068;21139048;21148485;21252943;21890473;21906983;21963094;22863883;22939629;23000965 64855 Q96TA1 AB210016;ABBA01043833;ABBA01043834;ABBA01043835;ABBA01043836;AF151783;AF192911;AK023580;AK025804;AK025951;AL137555;AL390116;AL445222;AMYH02021687;AMYH02021688;AMYH02021689;AMYH02021690;AMYH02021691;BC001979;BC018849;BC023210;BC067366;BC110345;BE300704;BM557756;BX280720;CH471090;CN423640;NM_001035534;NM_022833;XM_005252135 AAH01979;AAI10346;AAK57556;AAQ13825;BAB14615;BAB15240;BAE06098;CAB70809;EAW87675;EAW87676;EAW87677;EAW87678;NP_001030611;NP_073744;Q96TA1;XP_005252192 Hs.522401 1723409;1758597;1787010;2144192;2147234 RH118517;RH36266;SHGC-148897;SHGC-149487;WIAF-2190 C9orf88;DKFZP434H0820;FLJ13518;FLJ22151;FLJ22298;MEG-3;OC58;bA356B19.6 MINERVA;OTTHUMP00000022187;OTTHUMP00000022188;melanoma invasion by ERK;niban-like protein 1 protein-coding ENSG00000136830 HGNC:25282 10804 614045 VALIDATED 1606147 FAM132B family with sequence similarity 132, member B ENCODES a protein that exhibits hormone activity (ortholog); INVOLVED IN cellular iron ion homeostasis (ortholog); FOUND IN extracellular region (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; aflatoxin B1; bisphenol A 2 2 2 q37.3 232785225 232790057 + 239060579 239077516 + 238163020 238168875 + 6480464 12477932;14702039;22351773 151176 H0Y2X4;H7BY19;Q4G0M1 ABBA01042603;AC016757;AI362696;AK094353;AMYH02006071;BC031951;BC047423;BC063413;H05276;KF984314;NM_001291832;XM_006710143;XM_006712905;XM_006726401 AAH47423;AAY24335;AHL84165;BAC04336;NP_001278761;Q4G0M1;XP_006710206;XP_006712968;XP_006726464 Hs.24951;Hs.742300 2183573 RH15892 C1QTNF15;CTRP15;FLJ37034 complement C1q tumor necrosis factor-related protein 15;erythroferrone;hypothetical protein LOC151176;myonectin protein-coding HGNC:26727 615099 VALIDATED 1602817 FAM133A family with sequence similarity 133, member A INTERACTS WITH aflatoxin B1; benzo[a]pyrene X X X q21.32 93454260 93492515 + 92929012 92967273 + 93674013 93712274 + 6480464 12477932;14702039;16344560 286499 Q8N9E0 ABBA01064909;ABBA01064910;ABBA01064911;ABBA01064912;ABBA01064913;AK094978;AL009173;AMYH02039976;AMYH02039977;AMYH02039978;AMYH02039979;BC113385;BC113387;CH471115;DA188870;DA230927;DA297338;DA414074;DB084469;NG_016400;NM_001171109;NM_001171110;NM_001171111;NM_173698;XM_006724641 AAI13386;AAI13388;ADR83353;BAC04467;EAX02783;NP_001164580;NP_001164581;NP_001164582;NP_775969;Q8N9E0;XP_006724704 Hs.110069 1687646;5493327 RH94163;UniSTS:485734 CT115;FLJ37659;RP1-32F7.2 OTTHUMP00000023646;cancer/testis antigen 115;hypothetical protein LOC286499 protein-coding ENSG00000179083 HGNC:26748 06562 VALIDATED 6770282 FAM133DP family with sequence similarity 133, member D, pseudogene 2 2 2 q24.1 151848144 151850166 - 158234999 158237021 - 157378487 157380509 - 12477932 728066 AA844199;ABBA01004845;AC019201;AMYH02005043;NR_034169;T77355 Hs.470311 5091563 D17S1560 pseudo HGNC:44192 PROVISIONAL 6767493 FAM133CP family with sequence similarity 133, member C, pseudogene 10 10 10 q21.1 53739660 53742180 + 60474775 60477294 + 58715015 58717534 + 728640 AA447601;ABBA01019443;AC012168;AMYH02023157;BF063750;BQ023168;BX280179;NG_029759;NR_027508 Hs.729209 2180925 RH77835 pseudo HGNC:44190 VALIDATED 1315689 FAM134A family with sequence similarity 134, member A FOUND IN integral component of membrane (inferred); INTERACTS WITH elemental selenium; menadione; selenium atom 2 2 2 q35 213812655 213819914 + 220042939 220050197 + 219178217 219185475 + 6480464 11230166;12477932;14702039;15489334;16169070;16303743;17081983;19212629;20360068;21900206;24250222 79137 C9J3K5;C9JIF3;F8WAL5;F8WE68;H7C3D5;Q8NC44 ABBA01023851;AC068946;AK026155;AK074983;AK091011;AL136758;AL832843;AL833630;AMYH02005816;AMYH02005817;BC002420;BC064950;BC115412;BC141851;BG700888;BG723788;BU615764;CH471063;CQ782959;NM_024293;XM_005246848;XM_005246849 AAH64950;BAC11332;BAG52263;CAB66692;CAF86188;EAW70689;NP_077269;Q8NC44;XP_005246905;XP_005246906 Hs.516707 2146830;5091495 IB2434;RH66353 C2orf17;DKFZp686C2379;MGC3035 OTTHUMP00000206167;hypothetical protein LOC79137 protein-coding ENSG00000144567 HGNC:28450 12807 VALIDATED 1312650 FAM135A family with sequence similarity 135, member A ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; methyl methanesulfonate 6 6 6 q13 71511530 71659293 + 71123107 71270877 + 70413404 70561174 + 6480464;8554872 10718198;11076863;11230166;12477932;14702039;15489336;16381901;20379614;20549515;20970119;8125298 57579 D6RC17;D6RCC7;D6REA8;D6RFG9;H7BXC5;Q9P2D6 AB037832;ABBA01040268;ABBA01040269;AJ420590;AK000183;AK001911;AK002067;AK023639;AK128547;AK225230;AL078591;AL136820;AL365226;AMYH02013873;AMYH02013874;AMYH02013875;AX405975;BC030797;BC065767;BC131782;BM461890;CH471051;CR749254;DB462733;NM_001105531;NM_001162529;NM_020819;XM_005248743;XM_005248744;XM_005248745;XM_005248746;XM_005248747;XM_005248748;XM_005248749;XM_005248750;XM_005248751 AAH65767;AAI31783;AAI46701;BAA90995;BAA92066;BAA92649;CAB66754;CAD35082;CAH18110;CAL37518;CAL37865;CAL37867;CAL38150;CAL38214;EAW48814;EAW48815;EAW48816;EAW48817;EAW48818;EAW48819;EAW48820;EAW48821;NP_001099001;NP_001156001;NP_065870;Q9P2D6;XP_005248800;XP_005248801;XP_005248802;XP_005248803;XP_005248804;XP_005248805;XP_005248806;XP_005248807;XP_005248808 Hs.211700 1655749;1657104;1728509;2134837;5015619;5037552 D11S3114;D6S1207E;D8S2279;G63692;RH66382;STS-R55763 DKFZp781H2319;FLJ13577;KIAA1411 OTTHUMP00000016701;OTTHUMP00000218227;OTTHUMP00000218228;OTTHUMP00000218229;OTTHUMP00000218230;OTTHUMP00000218231;OTTHUMP00000218232;hypothetical protein LOC57579 protein-coding ENSG00000082269 HGNC:21084 11144 VALIDATED 1601869 FAM134B family with sequence similarity 134, member B The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 5 5 5 p15.1 16496766 16640783 - 16472922 16617167 - 16472813 16617058 - 6480464;7240710;8554872;8699517 12477932;16344560;17207965;17487424;19838196;20379614;21089229;21115472;21127458;21832049;24327336;24970562;24973512;8125298 54463 H0Y9U4;Q9H6L5 ABBA01020658;ABBA01020659;ABBA01020660;ABBA01020661;ABBA01020662;ABBA01020663;ABBA01020664;ABBA01020665;AC020980;AC022113;AI261750;AK000159;AK024920;AK025808;AK025832;AK225371;AL832438;AMYH02010919;BC020603;BC030517;BC053326;BC073132;BG430512;BG722905;CH471102;CR994722;DA136983;NG_016644;NM_001034850;NM_019000;XM_005248312 AAH30517;AAH53326;AAH73132;ADQ32021;BAA90982;BAB15034;BAB15241;BAB15252;CAH10610;EAX08022;EAX08023;NP_001030022;NP_061873;Q9H6L5;XP_005248369 Hs.481704 1696326;1709626;1774204;1856210;2133268;2146042 D5S2532;D5S2685;RH47732;SHGC-77754;SHGC-85175;STS-N47332 FLJ20152;FLJ22155;FLJ22179;JK-1;JK1 OTTHUMP00000220738;OTTHUMP00000220739 APPROVED protein-coding ENSG00000154153 HGNC:25964 07879 613114;613115 REVIEWED 1345211 FAM136BP family with sequence similarity 136, member B, pseudogene 6 6 6 p25.2 4274644 4275060 + 3045618 3046034 + 3045384 3045800 + 20877624 387071 ABBA01048622;AL031963;AMYH02012992;CH471087;NG_028136 EAW55113 C6orf87;FAM136B;dJ40E16.3 hypothetical protein LOC387071 APPROVED pseudo HGNC:21110 INFERRED 1605923 FAM136A family with sequence similarity 136, member A FOUND IN cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; cobalt dichloride 2 2 2 p13.3 70373798 70379911 - 70523108 70529293 - 70295976 70302088 - 6480464 11076863;11230166;11256614;12477932;14702039;15231747;15489336;16344560;16381901;20877624;21139048;21906983;21963094;22505724;24816145;25036637;8125298;8889548 84908 B0AZT6;C9J2Y4;C9JF51;E7EQY1;Q96C01 ABBA01075535;AC022201;AK027574;AK225148;AK225151;AK309543;AK315877;AL833147;AMYH02004038;BC014975;BC026293;CB853567;CH471053;DB266394;NM_032822;XM_005264620 AAH14975;AAX93110;BAB55208;BAF98768;CAL38017;EAW99815;EAW99816;NP_116211;Q96C01;XP_005264677 Hs.516077 5014539;5091182;5117208 D2S2654;GDB:451766;WI-12528 FLJ14668 OTTHUMP00000160074;OTTHUMP00000204042;OTTHUMP00000204043;hypothetical protein LOC84908 protein-coding ENSG00000035141 HGNC:25911 07866 VALIDATED 2303678 FAM138D family with sequence similarity 138, member D 12 12 12 p13.33 1144 2060 + 147946 149412 - 36659 38133 - 11779631;15233989 677784 ABBA01008804;AC026369;AC215219;AC238894;AMYH02025847;AY341951;HG504362;HG504363;NR_026823 AAQ76864 Hs.722487 5020617 G65650 F379;RP11-598F7.1 ncrna ENSG00000249054 HGNC:33583 VALIDATED 2303654 FAM138A family with sequence similarity 138, member A INTERACTS WITH cadmium atom; 6-propyl-2-thiouracil (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.33 1144 2060 + 34611 36081 - 34611 36081 - 6480464 11779631;15057824;15164053;15233989;15815621;16710414 645520 AL627309;AY341950;HG491499;HG491500;HG510195;HG510196;NR_026818 AAQ76863 Hs.569137 5020617 G65650 F379;FAM138F ncrna ENSG00000237613 HGNC:32334 VALIDATED 1606292 FAM135B family with sequence similarity 135, member B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH disodium selenite; valproic acid 8 8 8 q24.23 135311551 135677962 - 139142266 139509065 - 138130023 138496822 - 6480464;8554872 12477932;14702039;16169070;20125193;22228203;24024966;8619474;9110174 51059 E5RFQ7;E5RH68;H0YBQ7;J3QSR3;Q49AJ0 AB196635;ABBA01012671;ABBA01012672;ABBA01012673;AC068467;AC087711;AC103777;AF131744;AK091433;AMYH02018854;AMYH02018855;AMYH02018856;AMYH02018857;BC037288;BC106912;BC106913;BX110118;CH471060;CR457147;CR936831;KF458864;KF458868;KF495761;NM_015912;XM_005250928;XM_006716571 AAD20030;AAH37288;AAI06913;AAI06914;BAE53437;CAG33428;EAW92189;EAW92190;EAW92191;NP_056996;Q49AJ0;XP_005250985;XP_006716634 Hs.126024 1339536;1339717;1653510;1664858;1670231;1670257;1691338;1697574;1718485;1722067;1722821;1779046;1779570;2132331;2135276;2145410;2153337;2154478;2167756;2174291;2181260 A008Z29;AFM316xb1;CHLC.GAAT11A02;D11S1346;D8S1510;D8S1604;D8S1837;D8S468;G60072;G60352;GAAT-P33065;RH102297;RH11902;RH122444;RH16518;RH92137;SGC33004;SHGC-153545;UniSTS:43709;WI-14780;WI-16113 C8ORFK32;MGC126009;MGC126010;MGC33221 OTTHUMP00000194813;OTTHUMP00000194814;OTTHUMP00000226104;hypothetical protein LOC51059 protein-coding ENSG00000147724 HGNC:28029 14230 VALIDATED 1601713 FAM134C family with sequence similarity 134, member C ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 17 17 17 q21.2 37387436 37417341 - 40731526 40761445 - 42579508 42609427 - 6480464;8554872 12477932;14702039;16344560;17207965;19322201;21139048;21890473;23939472;24250222;7490091;8125298 162427 B3KR75;K7EJ34;K7EJ42;K7ELM8;K7EMF4;K7ENF4;K7ENZ6;K7EPD0;K7EQI9;Q86VR2 ABBA01006419;ABBA01006420;AC067852;AI307353;AK057409;AK091125;AK225797;AK294791;AK308288;AMYH02033430;AMYH02033431;AMYH02033432;BC024980;BC049370;BX647175;BX648069;CH471152;DB289370;L38937;NM_178126;NR_026697;XM_006721729 AAH49370;ADQ32494;BAG52287;BAG57914;EAW60851;EAW60852;NP_835227;Q86VR2;XP_006721792 Hs.632262 1705922;1722437;1849224;2121658;2139507;2191273;5014029 A005R24;D13S1639;D17S1344;G60293;MARC_17007-17008:1020868174:1;RH78087;SHGC-78090 FLJ33806 hypothetical protein LOC162427 protein-coding ENSG00000141699 HGNC:27258 14108 VALIDATED 2303679 FAM138F family with sequence similarity 138, member F INTERACTS WITH 6-propyl-2-thiouracil (ortholog); benzo[a]pyrene (ortholog); dibutyl phthalate (ortholog) 19 19 p13.3 76220 77690 - 76220 77690 - 6480464 11779631;12477932;15233989 641702 AC008993;AY341952;NR_026820 AAQ76865 Hs.569137;Hs.640260 5020617 G65650 F379;MGC168827 ncrna ENSG00000233630 HGNC:33581 VALIDATED 1320343 FAM13A family with sequence similarity 13, member A ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; aflatoxin B1 4 4 4 q22.1 86943498 87274311 - 89647105 90032549 - 88725954 89111398 - 6480464 10048485;12477932;14702039;15234000;15302935;16344560;16964243;19724895;19851296;19875103;20010835;20173748;20198315;20379614;20656943;21906983;22027142;22080838;23169000;23284291;23583980;23891779;24097068;24651745;9314494 10144 D6RCC1;D6RD35;D6RFM4;D6RGE4;D6RIY4;E9PGM7;O94988;Q6P521 AB020721;ABBA01063557;ABBA01063558;ABBA01063559;ABBA01063560;ABBA01063561;AC021183;AC079141;AC104785;AC108065;AF009202;AI658916;AK027138;AK091328;AK091787;AK091881;AK123724;AK296932;AK298262;AMYH02009698;AMYH02009699;AMYH02009700;AMYH02009701;AMYH02009702;AMYH02009703;BC033006;BC041029;BC053569;BC058029;BC063126;BC086875;BN000265;BX647410;CH471057;DA450095;DA692373;NM_001015045;NM_001265578;NM_001265579;NM_001265580;NM_014883;XM_005262681;XM_005262682;XM_005262683;XM_005262684;XM_005262685;XM_006714057 AAH63126;AAH86875;BAA74937;BAC03636;BAG59483;BAG60526;CAE18110;EAX06028;EAX06029;NP_001015045;NP_001252507;NP_001252508;NP_001252509;NP_055698;O94988;XP_005262738;XP_005262739;XP_005262740;XP_005262741;XP_005262742;XP_006714120 Hs.714536;Hs.97270 1335742;1646850;1652284;1662728;1668862;1668864;1676632;1717435;1735408;1754377;1758027;1772214;1773540;1846949;1848912;1849908;1855193;2107073;2118735;2128080;2131819;2133201;2144319;2152705;2154984;2154986;2155821;2160585;2165441;2166890;2168032;2170406;2172323;2175068;2177786;2178009;5109635 A006P29;D4S1011;D4S1160;D4S2460;D4S2508E;D4S2564E;D4S2580E;D4S2595E;D4S2828;D4S297;D4S3295;FAM13A1__7625;G33864;G34311;RH122208;RH45026;RH91970;SHGC-132393;SHGC-147152;SHGC-24784;SHGC-24785;SHGC-30448;SHGC-36144;SHGC-36780;SHGC-50218;SHGC-50344;SHGC-50449;SHGC-51762;SHGC-59262;SHGC-59703;SHGC-59723;SHGC-67278;SHGC-67699;SHGC4-1498;SHGC4-1593;SHGC4-1675;STS-N26574 ARHGAP48;FAM13A1;FLJ34562;MGC105131 FAM13A1_v2 protein;OTTHUMP00000219529;OTTHUMP00000219532;OTTHUMP00000219533;OTTHUMP00000219538;OTTHUMP00000219539;OTTHUMP00000219540;family with sequence similarity 13, member A1;protein FAM13A APPROVED protein-coding ENSG00000138640 HGNC:19367 10944 613299 VALIDATED 2303666 FAM138B family with sequence similarity 138, member B INTERACTS WITH cadmium atom 2 2 2 q14.1 1144 2060 + 114334959 114336429 + 113577382 113578852 + 6480464 11779631;12421752;15233989 654412 AC245097;AF346307;AL078621;AY341948;HG494521;HG494522;NR_026821 AAM93543;AAQ76861 Hs.640260 5020617 G65650 F379;bA395L14.6 ncrna ENSG00000226516 HGNC:33582 VALIDATED 1606931 FAM133B family with sequence similarity 133, member B ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH 2-methylcholine; trichostatin A; aflatoxin B1 (ortholog) 7 7 7 q21.2 86894604 86924236 - 92190072 92219706 - 92560758 92590394 - 6480464 11076863;11230166;12477932;12690205;15489336;16381901;21832049;22190034;24163370;24250222;24816145 257415 C9JUX2;G3XAI9;H0YH72;Q5BKY9 ABBA01045801;AC005156;AK125498;AK313692;AL833918;AMYH02016268;BC017874;BC032461;BC057771;BC062706;BC073952;BC090868;BC157872;BU581457;BX337761;CH236949;CH471091;NM_001040057;NM_001288584;NM_152789;NR_109929 AAH17874;AAH32461;AAH57771;AAH62706;AAH90868;AAI57873;BAG36441;BAG54207;CAD38774;CAL37870;CAL38741;EAL24147;EAW76831;EAW76832;EAW76833;EAW76834;EAW76835;EAW76836;NP_001035146;NP_001275513;NP_690002;Q5BKY9 Hs.18564;Hs.470311;Hs.489105 1645844;1768106;2119119;2149467;5091563 D17S1560;G31807;G37002;G37003;WI-17941 MGC40405 OTTHUMP00000208822;OTTHUMP00000208865;OTTHUMP00000208866;hypothetical protein LOC257415 protein-coding ENSG00000234545 HGNC:28629 17557 VALIDATED 1344753 FAM13A-AS1 FAM13A antisense RNA 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH valproic acid 4 4 4 q22.1 86927322 86947646 + 89630940 89651254 + 88709789 88730103 + 6480464;8554872 14702039;15234000;16344560 285512 ABBA01063557;AC108065;AK093650;AK126217;AMYH02009698;BN000087;DB305148;HG497066;NR_002806 Hs.744957 1662728;1668862;1668864;1846949;1849908;1857638;2107073;2128520;2154691;2165441;2166890;2168032 A006P29;D4S2508E;FAM13A1__7625;G33864;RH17389;RH25270;RH45026;SHGC-36780;SHGC-50449;SHGC-59723;SHGC-67699;SHGC-67980 FAM13A1OS;FAM13AOS;FLJ36331;NCRNA00039;RP11-496N17.2 APPROVED ncrna ENSG00000248019 HGNC:19370 613300 VALIDATED 2303669 FAM138E family with sequence similarity 138, member E 15 15 q26.3 102495088 102496558 + 101954885 101956355 + 11779631;15233989 100124412 AC140725;AC244668;AF282042;HG507552;HG507553;NR_026819 Hs.569137 F379 ncrna ENSG00000248893 HGNC:32335 VALIDATED 2303658 FAM138C family with sequence similarity 138, member C INTERACTS WITH 6-propyl-2-thiouracil (ortholog); benzo[a]pyrene (ortholog); dibutyl phthalate (ortholog) 9 9 p24.3 34394 35864 - 34394 35864 - 6480464 11779631;15233989 654835 AL449043;AMYH02019022;AY341949;AY341953;HG501823;HG501824;NR_026822 AAQ76862;AAQ76866 Hs.569137;Hs.640260;Hs.744304 5020617 G65650 F379 ncrna ENSG00000218839 HGNC:32333 VALIDATED 6483486 FAM149B1P1 family with sequence similarity 149, member B1 pseudogene 1 15 15 15 q26.2 73709123 73718378 + 97300216 97301823 + 96756986 96758593 + 16572171 388181 ABBA01032414;AC080145;AMYH02031120;NG_029289 1681508;1727081 Cda1lf04;G62942 FAM149B2;KIAA0974P APPROVED pseudo HGNC:31735 INFERRED 1604440 FAM150A family with sequence similarity 150, member A ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH amiodarone; dasatinib (anhydrous); fonofos 8 8 8 q11.23 49436928 49468353 - 53446597 53478021 - 52534037 52565461 - 6480464;8554872 12477932;12975309 389658 Q6UXT8 ABBA01041703;ABBA01041704;AC013650;AI858920;AMYH02017976;AY358213;BC130641;BC130643;BC144534;BP423106;NM_207413 AAI30642;AAI30644;AAI44535;AAQ88580;ADR83463;NP_997296;Q6UXT8 Hs.527111 MGC163513;MGC163515;UNQ9433 OTTHUMP00000226269;OTTHUMP00000226270;RPLK9433;hypothetical protein LOC389658 protein-coding ENSG00000196711 HGNC:33775 15623 VALIDATED 1321412 FAM13B family with sequence similarity 13, member B ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH (-)-demecolcine; benzo[a]pyrene diol epoxide I; cobalt dichloride 5 5 5 q31 133395904 133490701 - 137273638 137387650 - 137937949 138051961 - 6480464;8554872 10931946;11087669;11161817;12477932;15489334;16344560;19322201;20936779 51306 D6RAT6;D6RBJ3;D6RCA0;D6RDL7;D6RE97;Q9NYF5 ABBA01068701;ABBA01068702;AC106753;AC113382;AF157316;AF251038;AK130245;AK314224;AL833699;AMYH02012278;AW592656;AX405746;BC041335;BC048965;BC056887;BU183000;CH471062;DA499233;NM_001101800;NM_001101801;NM_016603;XM_005272007;XM_006714647;XM_006714648;XM_006714649 AAF63764;AAF67482;AAH48965;AAH56887;ACE86782;ACE87468;BAG36896;CAD34853;EAW62170;EAW62171;EAW62172;EAW62173;NP_001095270;NP_001095271;NP_057687;Q9NYF5;XP_005272064;XP_006714710;XP_006714711;XP_006714712 Hs.567453 1699486;1780672;1780684;2114522;2127533;5015879;5016781;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;GDB:314949;RH103336;SHGC-67307;STS-H99220;STS-H99814;bac51560S;bac51596T ARHGAP49;C5orf5;DKFZp667F249;FAM13B1;FLJ26735;KHCHP;MGC57159;N61 GAP-like protein N61;OTTHUMP00000159488;OTTHUMP00000223515;OTTHUMP00000223516;family with sequence similarity 13, member B1;hypothetical protein LOC51306 APPROVED protein-coding ENSG00000031003 HGNC:1335 06464 609371 VALIDATED 1602961 FAM150B family with sequence similarity 150, member B ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; methylmercury chloride 2 2 2 p25.3 342204 350952 - 279561 289002 - 279561 288867 - 6480464;8554872 11181995;12975309 285016 B5MC33;B5MCG6;H0Y3U4;Q6UX46 ABBA01035631;ABBA01035632;AC079779;AI300876;AI769402;AMYH02003161;AX085484;AX191508;AY358517;BC033490;CH471053;NM_001002919;XM_005264689;XM_006711879;XM_006711880;XM_006711881 AAI41486;AAI48770;AAQ88881;CAC34028;CAC51154;EAX01104;EAX01105;EAX01106;EAX01107;EAX01108;EAX01109;EAX01110;NP_001002919;Q6UX46;XP_005264746;XP_006711942;XP_006711943;XP_006711944 Hs.355207 1714215 RH119718 PRO1097;RGPG542 OTTHUMP00000199916;OTTHUMP00000199917;OTTHUMP00000199918;OTTHUMP00000199919;OTTHUMP00000199920;OTTHUMP00000199921;hypothetical protein LOC285016 protein-coding ENSG00000189292 HGNC:27683 17344 VALIDATED 1603341 FAM151A family with sequence similarity 151, member A FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 1 1 1 53362426 53376780 - 55074850 55089200 - 54609177 54623527 - 6480464 12477932;12975309;14702039;16344560;17273976;19056867;19913121;20379614;20628086;21832049 338094 B1AQ20;Q8WW52 ABBA01074712;AK091901;AL590093;AMYH02001056;AMYH02001057;AY358629;BC015993;BC020874;BC073921;CH471059;DB335516;NM_176782;XM_006710599 AAH15993;AAH20874;AAH73921;AAQ88992;BAC03768;EAX06685;EAX06686;NP_788954;Q8WW52;XP_006710662 Hs.234786;Hs.745173 2106719;2142480 SHGC-74880;THEA__5252 C1orf179;MGC27169 OTTHUMP00000011521;OTTHUMP00000011522;hyporthetical protein MGC27169;hypothetical protein LOC338094 protein-coding ENSG00000162391 HGNC:25032 11326 VALIDATED 1604030 FAM149A family with sequence similarity 149, member A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A 4 4 4 q35.1 184388532 184416266 + 187026054 187093817 + 186104905 186172663 + 6480464;8554872 12477932;14702039;19460752;8889548 25854 A5PLN7;D6RAL4;D6RC92;D6RGX1;H0Y8Y9;H0Y909;H0Y965 ABBA01070548;ABBA01070549;ABBA01070550;AC104070;AC110771;AF173894;AK057166;AK295340;AK297679;AK309233;AK311462;AL080065;AMYH02010673;AMYH02010674;BC110816;BC136792;BC142992;BC144411;BM543645;BM926763;BQ884007;BU609191;CH471056;H17463;NM_001006655;NM_015398;XM_005262901;XM_005262902;XM_005262903;XM_005262904;XM_005262905;XM_005262906;XM_005262907;XM_005262908;XM_005262909;XM_005262910;XM_005262911;XM_005262912;XM_005262913 A5PLN7;AAI10817;AAI36793;AAI42993;AAI43082;AAI43083;AAI44412;AAQ13641;BAG51873;BAG58311;BAH12648;CAB45695;EAX04625;EAX04626;EAX04627;NP_001006656;NP_056213;XP_005262958;XP_005262959;XP_005262960;XP_005262961;XP_005262962;XP_005262963;XP_005262964;XP_005262965;XP_005262966;XP_005262967;XP_005262968;XP_005262969;XP_005262970 Hs.744961 1665895;1665897;1675746;1746755;1848278;2131758;2131760 G64842;SHGC-19044;SHGC-31286;SHGC-34941;SHGC-50330;SHGC-67330;STS-H70329 DKFZp564J102;MST119;MSTP119 OTTHUMP00000218485;OTTHUMP00000218486;OTTHUMP00000218497;OTTHUMP00000218498;hypothetical protein LOC25854 protein-coding ENSG00000109794 HGNC:24527 16810 VALIDATED 1351219 FAM149B1 family with sequence similarity 149, member B1 INTERACTS WITH 5-aza-2'-deoxycytidine; arsane; arsenic atom 10 10 10 q22.2 68213504 68287562 + 74927877 75002435 + 73168119 73242677 + 737633;6480464 12477932 10231032;14702039;8889548 317662 H0Y607;H7BY93;Q96BN6;V9GYM5 AB023191;ABBA01020332;ABBA01020333;AC016394;AK023439;AK025189;AK303436;AMYH02023331;BC015394;BM977866;CH471083;DC340839;NM_173348;XM_005269744;XM_005269745;XM_005269746;XM_005269747;XM_006717815 AAH15394;ADZ15330;BAA76818;BAG51194;BAG64484;EAW54482;NP_775483;Q96BN6;XP_005269801;XP_005269802;XP_005269803;XP_005269804;XP_006717878 Hs.408577 1647850;1652341;1653323;1672020;1681508;1682205;1683425;1848231;2108025;2141614;2162096;2162563;5092678;5124837 A004V38;A005P38;Cda1lf04;D10S2398;DNAJC9_8008;G32259;HSC0RG102;RH28295;RH69462;RH98701;SGC32014;SHGC-32362;STS-R05800;WI-15528 KIAA0974 OTTHUMP00000071136;OTTHUMP00000071138;hypothetical protein LOC317662 protein-coding HGNC:29162 VALIDATED 1320881 FAM13C family with sequence similarity 13, member C INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 10 10 10 q21.1 54272006 54388785 - 61005889 61122661 - 59246129 59363181 - 6480464 12477932;15489334;16189514;16344560;16385451;20200953;23362303;8619474;8889548;9110174 220965 A8K181;B4DSU7;B7Z2K3;D6RIX4;H0YGW3;Q8NE31 ABBA01019446;ABBA01019447;ABBA01019448;ABBA01019449;ABBA01019450;ABBA01019451;AC025038;AI453702;AK289796;AK294805;AK299924;AK316542;AL355474;AMYH02023162;BC036453;BC064431;BM677909;BM714192;BP394664;CH471083;DA188937;KF459662;NM_001001971;NM_001143773;NM_001166698;NM_198215;U79304;XM_005269618;XM_005269619;XM_006717702;XM_006717703 AAB50228;AAH36453;AAH64431;ABM85330;ABW03713;BAF82485;BAG61759;BAH11889;BAH14913;EAW54187;EAW54188;EAW54189;EAW54190;EAW54191;EAW54192;EAW54193;NP_001001971;NP_001137245;NP_001160170;NP_937858;Q8NE31;XP_005269675;XP_005269676;XP_006717765;XP_006717766 Hs.607594 1342326;1710010;1761753;1789052;1854664;2121469;2157489;2161523;2164772;2178731;5019661;5021355;7187927 A009B22;D10S1860;D10S1867;D10S207;G17470;G32383;G65661;MARC_4733-4734:996679630:1;SHGC-145720;SHGC-30631;SHGC-57561;SHGC-82275 FAM13C1;MGC33233 OTTHUMP00000019640;OTTHUMP00000019641;OTTHUMP00000019642;OTTHUMP00000217373;OTTHUMP00000217375;OTTHUMP00000217376;OTTHUMP00000217377;OTTHUMP00000237978;family with sequence similarity 13, member C1;hypothetical protein LOC220965 APPROVED protein-coding ENSG00000148541 HGNC:19371 16875 VALIDATED 1604707 FAM153A family with sequence similarity 153, member A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 4-nonylphenol; amiodarone; atrazine 5 5 5 q35.3 144 2536 - 177150365 177207505 - 177723149 177783343 - 6480464;8554872 10508479;12477932;16189514;16344560;9872452 285596 A8MWQ6;D6RCD4;D6REE0;D6REX6;D6RF32;D6RF64;D6RIF1;Q9UHL3 AB018295;ABBA01111911;AC140125;AF155097;AK289518;AMYH02012844;AMYH02012845;AMYH02012846;AMYH02012847;AMYH02012848;AMYH02012849;DA217331;DB043399;DB046513;NM_173663;XM_005265889;XM_006714841;XM_006714842;XM_006714843;XM_006714844;XM_006714845;XM_006714846;XM_006714847;XM_006714848;XM_006714849;XM_006714850;XM_006714851;XM_006714852;XM_006714853;XM_006714854;XR_425938;XR_425939 AAD42863;AAI66656;BAA34472;BAF82207;NP_775934;Q9UHL3;XP_005265946;XP_006714904;XP_006714905;XP_006714906;XP_006714907;XP_006714908;XP_006714909;XP_006714910;XP_006714911;XP_006714912;XP_006714913;XP_006714914;XP_006714915;XP_006714916;XP_006714917 Hs.368516;Hs.652754 5015619;5015881;5037552 D11S3114;D8S2279;GDB:335751 FLJ75901;KIAA0752;NY-REN-7 NY REN 7 antigen;NY-REN-7 antigen;OTTHUMP00000223786;OTTHUMP00000223787;OTTHUMP00000223789;hypothetical protein LOC285596;renal carcinoma antigen NY-REN-7 protein-coding ENSG00000170074 HGNC:29940 14870 VALIDATED 1603888 FAM151B family with sequence similarity 151, member B INTERACTS WITH 17beta-estradiol; dibutyl phthalate (ortholog); paracetamol (ortholog) 5 5 5 q14.1 75685113 75739510 + 79783800 79838382 + 80487981 80542563 + 6480464 12477932;12975309;24250222;7937745 167555 D6RD51;Q6UXP7 ABBA01062040;ABBA01062041;ABBA01062042;AC008771;AC018764;AMYH02011666;AMYH02011667;AMYH02011668;AY358256;BC131563;BC142990;CH471084;KF457928;NM_205548;T10044;XM_005248454;XM_006714564 AAI31564;AAQ88623;EAW95854;EAW95855;EAW95856;NP_991111;Q6UXP7;XP_005248511;XP_006714627 Hs.338182;Hs.592674 1336630;2106741;2152433 D5S1397;RH78458;UNQ9217__5022 UNQ9217 AASA9217;OTTHUMP00000161978;hypothetical protein LOC167555 protein-coding ENSG00000152380 HGNC:33716 18272 VALIDATED 2292084 FAM153B family with sequence similarity 153, member B INTERACTS WITH aflatoxin B1; levonorgestrel; silicon dioxide 5 5 5 q35.2 173103231 173104090 + 175490712 175541801 + 176063709 176114798 + 6480464 12477932;14702039;16344560;9776767 202134 D6RF84;H0YL08;H0YMR7;P0C7A2 ABBA01011925;AC139491;AL042735;AMYH02012811;AW072245;BC028606;CD580216;DA224878;DB291737;NM_001265615 AAH28606;NP_001252544;P0C7A2 Hs.368516 1698510;5015619;5015961;5020948;5037552;5109281 D11S3114;D15S1477;D1S1425;D8S2279;G35510;RH102805 DKFZp434D115 OTTHUMP00000223257;OTTHUMP00000223259;OTTHUMP00000223260;OTTHUMP00000223262;hypothetical protein LOC202134 protein-coding ENSG00000182230 HGNC:27323 VALIDATED 6480968 FAM155A-IT1 FAM155A intronic transcript 1 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 q33.3 108439709 108487799 - 107787361 107835458 - 8554872 23251661 100874375 ABBA01027031;AL136964;AMYH02028673;AMYH02028674;BC043519;BI831413;NR_046848 Hs.653972 ncrna HGNC:41503 VALIDATED 2289766 FAM153C family with sequence similarity 153, member C 5 5 q35.3 177433967 177476088 + 178006966 178049087 + 12477932;14702039;16344560 653316 D6RA46;D6RCA3;D6RF56;Q494X1 ABBA01009980;AC136632;AC136940;AK294762;AMYH02012859;BC101338;BC101339;BC101340;BC101341;BC131737;BC146883;BC146888;BC171810;DA083707;DB030341;DB349407;NR_038353 AAI01339;AAI01340;AAI01341;AAI01342;AAI31738;AAI46884;AAI46889;AAI71810;BAG57896;Q494X1 Hs.652193 1852716;5015263;5015619;5037552 D11S3114;D8S2279;SHGC-84036;WI-16216 FLJ60013;NY-REN-7-like OTTHUMP00000223991;OTTHUMP00000223992;OTTHUMP00000223993;OTTHUMP00000223994;hypothetical protein LOC653316 pseudo ENSG00000204677 HGNC:33936 VALIDATED 1350785 FAM155B family with sequence similarity 155, member B This gene encodes a product belonging to a family of proteins with unknown function. The presence of two transmembrane domains suggests that this protein is a multi-pass membrane protein. [provided by RefSeq, Sep 2011] X X X q13.1 69078407 69105680 + 68725078 68752351 + 69505235 69532508 + 1580863;6480464 12477932 27112 O75949 ABBA01067467;ABBA01067468;ABBA01067469;AF087142;AL158069;AMYH02039649;BC136518;BC136519;CH471132;NG_021282;NM_015686 AAC62086;AAI36519;AAI36520;EAX05363;EAX05364;NP_056501;O75949 Hs.87619 1711188;2109979;2117717 DXS8335;SHGC-85341;TMEM28_9526 CXorf63;TED;TMEM28;bB57D9.1 OTTHUMP00000023460;bB57D9.1 (TED protein);transmembrane protein 28;transmembrane protein FAM155B APPROVED protein-coding ENSG00000130054 HGNC:30701 06740 VALIDATED 1346543 FAM156A family with sequence similarity 156, member A ENCODES a protein that exhibits methylated histone binding (inferred); FOUND IN nuclear envelope; INTERACTS WITH arsane; arsenic atom; calcitriol X X X p11.22 56750404 56760120 + 52976462 53024651 - 52947254 52995472 - 737633;1580863;6480464 12477932 11076863;11230166;11256614;14702039;15489334;15489336;15772651;16189514;16344560;16381901;16712791 29057 Q8NDB6 AC234031;AF090943;AF370413;AK054721;AK057692;AK092365;AK096162;AL807736;AL834135;AMYH02039447;AMYH02039448;AMYH02039449;AMYH02039450;AMYH02039451;BC000867;BC067819;BI829697;BU192418;CB139342;CH471283;CR749619;DA256347;DA347198;DA368012;DA371625;DA572135;DA685609;DA691898;DA849151;NM_001242489;NM_001242490;NM_001242491;NM_001242492;NM_001242493;NM_001242494;NM_001242495;NM_001242496;NM_001242497;NM_014138;XM_005262005;XM_005277984;XM_006724586;XM_006724587 AAF24055;AAH00867;AAH67819;AAQ15249;BAG51954;BAG52539;BAG53221;CAD38851;CAH18413;CAL38064;EAW57547;NP_001229418;NP_001229419;NP_001229420;NP_001229421;NP_001229422;NP_001229423;NP_001229424;NP_001229425;NP_001229426;NP_054857;Q8NDB6;XP_005262062;XP_005278041;XP_006724649;XP_006724650 Hs.6451;Hs.653131 1673734;1857556;2109981;2161505 AF020134;IB3700;TMEM29_9572;WI-18679 DKFZp686B22211;FAM156B;PRO0659;TMEM29 OTTHUMP00000023324;OTTHUMP00000023325;OTTHUMP00000023327;OTTHUMP00000023328;OTTHUMP00000023329;OTTHUMP00000023330;OTTHUMP00000023331;OTTHUMP00000023332;OTTHUMP00000023333;OTTHUMP00000218433;OTTHUMP00000218434;OTTHUMP00000218435;OTTHUMP00000218436;OTTHUMP00000218438;protein FAM156A/FAM156B;transmembrane protein 29;transmembrane protein 29/29B protein-coding ENSG00000268350 HGNC:30114 06683 VALIDATED 2303674 FAM157A family with sequence similarity 157, member A 3 3 q29 197879039 197907728 + 198152168 198212310 + 728262 C9JC47 AC073135;AMYH02008530;NM_001145248;XM_006713740;XM_006724999;XR_427372;XR_427373;XR_427374;XR_427375;XR_427376;XR_427377;XR_427378;XR_427379;XR_427380;XR_430652;XR_430653;XR_430654;XR_430655;XR_430656;XR_430657;XR_430658;XR_430659 C9JC47;NP_001138720;XP_006713803;XP_006725062 Hs.744675 putative protein FAM157A protein-coding HGNC:34079 INFERRED 2293495 FAM155A family with sequence similarity 155, member A ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; silicon dioxide; trichostatin A 13 13 13 q33.3 88665078 89363877 - 107820879 108519460 - 107168531 107867112 - 6480464;8554872 12477932;16344560;18951430;20379614;20800221;21079607;23251661;23453885;23738518;23934736;8325628;8889549 728215 B1AL88 ABBA01027030;ABBA01027031;ABBA01027032;ABBA01027033;ABBA01027034;ABBA01027035;ABBA01027036;ABBA01027037;AK295445;AL136964;AL137219;AL138710;AL138914;AL359831;AL445204;AL445649;AMYH02028668;AMYH02028669;AMYH02028670;AMYH02028671;AMYH02028672;AMYH02028673;AMYH02028674;AW592075;BC146878;BC157830;BC157855;BC157862;DA779672;L10374;N69765;NM_001080396 AAI46879;AAI57831;AAI57856;AAI57863;B1AL88;BAH12070;NP_001073865 Hs.535394 1337481;1338935;1340935;1676462;1691326;1694684;1697732;1703738;1709452;1724487;1732301;1738409;1752205;1755343;1756379;1757533;1852002;2169529;2169644;5023091;5494195 AFMa304yb5;D13S1487;D13S619;D13S630;D13S669E;D13S778;D13S796;D13S908;D16Bir10;G43528;RH102388;RH11314;RH122502;RH92787;SHGC-106087;SHGC-142229;SHGC-143349;SHGC-144964;SHGC-78918;SHGC-81770;contig_117426 OTTHUMP00000018689;transmembrane protein FAM155A protein-coding HGNC:33877 VALIDATED 1322281 FAM154A family with sequence similarity 154, member A INTERACTS WITH thapsigargin 9 9 9 p22.1 18854088 18959450 - 18927891 19033256 - 18927660 19049354 - 737633 12477932 14702039;15164053;15489334;16344560;20379614;23088713;23144319;24722188 158297 B3KQ57;F6S232;Q5VZT6;Q8IYX7 AA992255;ABBA01065222;ABBA01065223;AI808568;AK057474;AK292245;AL158150;AL356000;AMYH02019254;AMYH02019255;AMYH02019256;AW079914;BC033489;BM563230;CH471071;DB035807;DB038218;DB236904;NM_001287049;NM_001287050;NM_153707 AAH33489;BAF84934;BAG51919;EAW58654;NP_001273978;NP_001273979;NP_714918;Q8IYX7 Hs.731593 1678251;1678305;1754789;1786980 RH91482;RH92577;SHGC-141283;SHGC-145926 C9orf138;FLJ35283;MGC35182 4930500O09Rik;OTTHUMP00000021090;OTTHUMP00000021091;hypothetical protein LOC158297 protein-coding ENSG00000155875 HGNC:28566 16676 VALIDATED 1606117 FAM154B family with sequence similarity 154, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); titanium dioxide (ortholog) 15 15 15 q25.2 59494159 59516275 + 82555152 82577271 + 82262811 82284927 + 6480464;8554872 12477932 283726 H3BMC1;H3BP55;H3BQV6;H3BVD4;Q658L1 ABBA01060647;AC026624;AC243919;AK304339;AL833762;BC144647;CH471136;NM_001008226;XM_005254317;XM_005254318;XM_005254319;XM_006720475;XM_006720476 BAG65184;CAH56241;EAW99085;NP_001008227;Q658L1;XP_005254374;XP_005254375;XP_005254376;XP_006720538;XP_006720539 Hs.459117 DKFZp666G057 hypothetical protein LOC283726 protein-coding ENSG00000188659 HGNC:33727 16817 PREDICTED 2303657 FAM157B family with sequence similarity 157, member B 9 9 q34.3 141106439 141152460 + 138216187 138243722 + 14702039;15164053 100132403 P0CG42 AL954642;AMYH02021952;AMYH02021953;AMYH02021954;AMYH02021955;AMYH02021956;HG502561;NM_001145249 NP_001138721;P0CG42 Hs.741123 RP11-885N19.7 Putative protein FAM157B protein-coding HGNC:34080 INFERRED 2293812 FAM160A1 family with sequence similarity 160, member A1 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 17beta-estradiol (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 4 4 4 q31.3 149654831 149908687 + 152330398 152591655 + 151409246 151670503 + 6480464 10737800;12477932;16344560;20379614;8889549 729830 D6RAG2;D6RBF5;D6RDL4;D6RF38;Q05DH4 AA021504;ABBA01070113;ABBA01070114;ABBA01070115;ABBA01070116;ABBA01070117;ABBA01070118;AC079795;AC092611;AC097455;AK125363;AMYH02010306;BC014937;CV410375;DA722299;NM_001109977;XM_005263199 AAH14937;BAC86147;NP_001103447;Q05DH4;XP_005263256 Hs.633810 1649001;1663012;1695596;1751073;1763073;1788954;2117427;2136679;2155621;2162359;2176022 D4S1123;D4S1324;D4S481;D4S848;D4S942;G65552;SHGC-105026;SHGC-146808;SHGC-51206;SHGC-57096;SHGC-68685 FLJ43373 OTTHUMP00000220552;hypothetical protein LOC729830 protein-coding ENSG00000164142 HGNC:34237 PROVISIONAL 1604775 FAM160A2 family with sequence similarity 160, member A2 INVOLVED IN early endosome to late endosome transport; endosome organization; endosome to lysosome transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN FHF complex; INTERACTS WITH atrazine; hydrogen peroxide; pirinixic acid 11 11 11 p15.4 6351643 6375017 - 6232564 6255941 - 6211334 6234711 - 6480464;8554872 11076863;11214970;11230166;11256614;12477932;14702039;15489334;15489336;16189514;16344560;16381901;18799622;21906983 84067 E9PJK5;Q8N612 AB051546;ABBA01028663;AC022762;AK056468;AK291702;AL136723;AMYH02024265;BC030825;CH471064;DA389621;NM_001098794;NM_032127;XM_005253157;XM_006718342;XM_006718343 AAH30825;ACE86964;ACE87654;BAB21850;BAF84391;BAG51722;CAB66657;CAL37668;EAW68737;EAW68738;EAW68739;EAW68740;NP_001092264;NP_115503;Q8N612;XP_005253214;XP_006718405;XP_006718406 Hs.501793 2161913;2183752;2183754 A006C42;D11S4412;G20710 C11orf56;DKFZp566M1046;FHIP;FLJ22665;KIAA1759 FTS and Hook-interacting protein;OTTHUMP00000164536;OTTHUMP00000229564;OTTHUMP00000229565 protein-coding ENSG00000051009 HGNC:25378 08002 VALIDATED 2293813 FAM159B family with sequence similarity 159, member B FOUND IN integral component of membrane (inferred); INTERACTS WITH cocaine (ortholog); thioacetamide (ortholog) 5 5 5 q12.3 60983044 61010937 + 63986135 64014017 + 64690308 64718190 + 6480464 15372022 100132916 A6NKW6;D6RH14 ABBA01048337;ABBA01048338;AC008898;AMYH02011418;BQ271827;BU785751;BU952508;CH471137;NM_001164442 A6NKW6;EAW51370;NP_001157914 Hs.591776 1680082;1684046;1735440;1753303;1769949;1771149;2116402;2128710 D5S1573E;RH45975;RH48771;RH92756;RH92832;SGC38270;SHGC-81717;STS-N34863 OTTHUMP00000221853;membrane protein FAM159B protein-coding ENSG00000145642 HGNC:34236 VALIDATED 1626581 FAM156B family with sequence similarity 156, member B ENCODES a protein that exhibits methylated histone binding (inferred); FOUND IN nuclear envelope; INTERACTS WITH succimer (ortholog) X X X p11.22 56750951 56760120 + 52920629 52937587 + 52891306 52908560 + 6480464 11256614;14702039;15489334;15772651;16382448 727866 Q8NDB6 ABBA01056344;AC234031;AK091598;AL445236;AL772208;AMYH02039432;AMYH02039433;AMYH02039434;AMYH02039435;AMYH02039436;AMYH02039437;AX405861;BX649013;NM_001099684;XM_005262024;XM_005262025;XM_005262030;XM_005277996;XM_006724606 BAG52389;CAD34968;NP_001093154;Q8NDB6;XP_005262081;XP_005262082;XP_005262087;XP_005278053;XP_006724669 Hs.6451 1673734;1857556;1858560;2109981;2161505;2162589 AF020134;DXS7726;IB3700;TMEM29_9572;UniSTS:55160;WI-18679 DKFZp686H1294;FAM156A;FLJ33130;FLJ34279;FLJ38843;TMEM29B OTTHUMP00000218311;OTTHUMP00000218312;OTTHUMP00000218313;OTTHUMP00000218314;OTTHUMP00000218315;OTTHUMP00000218316;protein FAM156A/FAM156B;transmembrane protein 29;transmembrane protein 29-like;transmembrane protein 29/29B;transmembrane protein 29B protein-coding ENSG00000179304 HGNC:31962 PROVISIONAL 1601694 FAM159A family with sequence similarity 159, member A FOUND IN integral component of membrane (inferred); INTERACTS WITH lead(0); lead(2+) 1 1 1 p32.3 51385843 51409503 + 53098961 53133252 + 52633344 52667514 + 6480464 12477932;12975309 348378 Q6UWV7 ABBA01074765;AC099784;AK128236;AL356976;AMYH02001020;AY358621;BC041608;CH471059;NM_001042693;XM_005270824 AAQ88984;BAC87346;EAX06773;EAX06774;EAX06775;NP_001036158;Q6UWV7;XP_005270881 Hs.424589 1854731;2171332 D1S1173;D1S2599 MGC52498;PRO7171;WWLS2783 OTTHUMP00000224886;membrane protein FAM159A protein-coding ENSG00000182183 HGNC:28757 14678 VALIDATED 2293814 FAM161A family with sequence similarity 161, member A This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011] 2 2 2 p15 61897120 61926189 - 62051983 62081278 - 61824848 61854143 - 6480464;7240710;8554872;8699517 10507729;11076863;11230166;12477932;14702039;15489336;16169070;16381901;20301590;20705278;20705279;22791751;22940612;24250222;24520187;24664697 84140 F8W731;F8WCZ8;H7C4C9;Q3B820 ABBA01075372;AC107081;AI690681;AK023367;AK296255;AK310908;AMYH02003936;BC036448;BC107162;BC107163;BX648834;BX649029;CH471053;DC398889;NG_028125;NM_001201543;NM_032180;NR_037710;XM_006712113;XM_006712114;XM_006712115 BAB14544;BAG58969;CAL37420;CAL37710;CAL38395;EAW99988;EAW99989;EAW99990;EAW99991;NP_001188472;NP_115556;Q3B820;XP_006712176;XP_006712177;XP_006712178 Hs.440466 1341532;1690776;1694942;1784150;1789148;5022200;5022578;5037552 D1S1423;D2S380;D8S2279;G44364;G65708;L18426;RH92836;SHGC-154774 FLJ13305;MGC129982;MGC129983;RP28 OTTHUMP00000201350;OTTHUMP00000201353;hypothetical protein LOC84140;retinitis pigmentosa 28 (autosomal recessive) APPROVED protein-coding ENSG00000170264 HGNC:25808 606068;613596 REVIEWED 1604863 FAM163B family with sequence similarity 163, member B FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); copper(2+) sulfate (ortholog) 9 9 9 q34.2 106991068 106992269 - 136442141 136474472 - 133577076 133609350 - 6480464 10737800;12477932;15164053 642968 A8MTS3;P0C2L3 ABBA01032454;AC002101;AMYH02021834;BC146946;BC146961;BF365944;BX629352;NM_001080515;XM_005272203;XM_005272204;XM_005272205;XM_006717233;XR_428533 AAI46947;AAI46962;AAI52888;AAI56626;AAI56837;NP_001073984;P0C2L3;XP_005272260;XP_005272261;XP_005272262;XP_006717296 Hs.741379 C9orf166 OTTHUMP00000215809;hypothetical LOC642968;hypothetical protein LOC642968 protein-coding ENSG00000196990 HGNC:33277 VALIDATED 1603057 FAM162A family with sequence similarity 162, member A INVOLVED IN activation of cysteine-type endopeptidase activity involved in apoptotic process; cellular response to hypoxia; positive regulation of apoptotic process; FOUND IN cytoplasm; extracellular vesicular exosome; mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; cobalt dichloride 3 3 3 q21.1 120512651 120538589 + 122103023 122128961 + 122384176 122410114 + 6480464 11085516;12477932;14702039;15082785;15489334;16698020;19269009;19520982;20705733;20840676;20877624;21906983;22505724;22939629;23246001;23798571;24816145 26355 E9PH05;F8W7Q4;Q96A26;Q9H2P1 ABBA01016470;AC083798;AF107495;AF191020;AF201944;AF250321;AK026030;AK125835;AK293994;AMYH02007537;BC010896;BC015060;BI460077;CH471052;NM_014367 AAF09484;AAF86880;AAG39275;AAG44569;AAH10896;AAH15060;BAG57358;EAW79486;NP_055182;Q96A26 Hs.584881 2132902 D3S4236 C3orf28;E2IG5;HGTD-P E2-induced gene 5 protein;HIF-1 alpha-responsive proapoptotic molecule;OTTHUMP00000215578;OTTHUMP00000215579;OTTHUMP00000215580;growth and transformation-dependent protein protein-coding HGNC:17865 06422 608017 VALIDATED 1318892 FAM160B2 family with sequence similarity 160, member B2 INTERACTS WITH cobalt dichloride; copper(2+) sulfate; paracetamol 8 8 8 p21.3 20908996 20924174 + 21946695 21962405 + 22089184 22104894 + 6480464 12477932;14702039;15146197;15626329;19122663;21832049;22971576 64760 F2Z2X3;Q86V87 ABBA01005501;ABBA01005502;ABBA01005503;ABBA01005504;AC091171;AF318332;AF495722;AK001987;AK025411;AK025454;AK055191;AK095924;AK126408;AK294646;AK315634;AMYH02017588;BC012865;BC013350;BC052237;BC112147;CH471080;CN307828;NM_022749;XM_005273602;XM_006716381;XM_006716382;XM_006716383;XM_006716384;XM_006716385;XR_247128;XR_428313;XR_428314 AAH12865;AAH13350;AAH52237;AAI12148;AAL55839;AAQ06676;BAB15137;BAG38002;BAG51483;BAG57823;EAW63720;EAW63721;EAW63722;EAW63723;NP_073586;Q86V87;XP_005273659;XP_006716444;XP_006716445;XP_006716446;XP_006716447;XP_006716448 Hs.491223 1335778;1660433;1674220;1721367;1721703;1728385;2115053;2139962;2166975;2172714;5092734 A005V15;D8S1951;DXS8056;G32295;G59684;G59714;G63475;RH45540;RH69860;RH70272;WI-20118 FLJ11125;FLJ21801;MGC138352;RAI16 OTTHUMP00000224803;OTTHUMP00000224804;retinoic acid induced 16;retinoic acid-induced protein 16 protein-coding ENSG00000158863 HGNC:16492 17951 VALIDATED 1351794 FAM162B family with sequence similarity 162, member B ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 6 6 6 q22.1 117816449 117829975 - 117073360 117086886 - 116752197 116765723 - 6480464;8554872 12477932;14574404;15489334;20379614;21460395;8889549 221303 Q5T6X4 ABBA01026045;AL354716;AMYH02014356;BC038997;CH471051;H71557;NM_001085480 AAH38997;EAW48215;NP_001078949;Q5T6X4 Hs.126712 1678653;1699548 RH103373;RH93925 C6orf189;bA86F4.2 OTTHUMP00000017074;hypothetical protein LOC221303 protein-coding ENSG00000183807 HGNC:21549 VALIDATED 1605572 FAM163A family with sequence similarity 163, member A ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); atrazine; hydralazine 1 1 1 q25.2 152819916 152892948 + 179696912 179785333 + 179727763 179816198 + 6480464;8554872 12477932;15489334;16710414;17208556;19671756;20379614 148753 Q96GL9 AB299025;ABBA01027806;ABBA01027807;AK292432;AK302665;AK310711;AK313887;AL359853;AMYH02002237;AMYH02002238;AY902195;BC009382;CH471067;NM_173509;XM_005244913;XM_006711174;XM_006711175;XM_006711176;XM_006711177 AAH09382;AAX07133;ABM84042;ABM87389;BAF85121;BAF96730;BAG36612;BAG63900;EAW91055;NP_775780;Q96GL9;XP_005244970;XP_006711237;XP_006711238;XP_006711239;XP_006711240 Hs.729631 1685163;1692170;1699842;1781798;5492031 AL033719;D1Bda47;RH103528;RH98456;SHGC-156054 C1orf76;MGC16664;NDSP;RP11-12M5.2 OTTHUMP00000033195;cebelin;neuroblastoma derived secretory protein;neuroblastoma-derived secretory protein protein-coding ENSG00000143340 HGNC:28274 14454 611727 PROVISIONAL 1319187 FAM161B family with sequence similarity 161, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; coumestrol; ethyl methanesulfonate 14 14 14 q24.3 54437651 54453783 - 74399695 74417117 - 73932992 73950414 - 6480464;8554872 12477932;14702039;15231748;15489334;7566098 145483 H0YJ62;Q96MY7 ABBA01030740;AC005480;AI082216;AK056259;AK302982;AMYH02029502;AW274700;BC053909;BI253737;CH471061;CR749537;NM_152445 AAH53909;BAB71131;BAH13868;EAW81144;EAW81145;NP_689658;Q96MY7 Hs.550547;Hs.660789 2143185;5020885;5124759 G35542;L17791;RH80544 C14orf44;FLJ31697;c14_5547 OTTHUMP00000245616;hypothetical protein LOC145483 protein-coding ENSG00000156050 HGNC:19854 12649 VALIDATED 2293907 FAM166B family with sequence similarity 166, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH torcetrapib; valproic acid; pirinixic acid (ortholog) 9 9 9 p13.3 35495505 35497455 - 35561827 35563896 - 35561830 35563899 - 6480464;8554872 12477932;8889548 730112 A8MTA8;B7ZW26;B7ZW33 ABBA01064991;AI383111;AL133476;AMYH02019461;BC129999;BC146928;BC146933;BC171840;BC171851;CB241755;NM_001099951;NM_001164310;NM_001287238;NM_001287239 A8MTA8;AAI30000;AAI46929;AAI46934;AAI71840;AAI71851;NP_001093421;NP_001157782;NP_001274167;NP_001274168 Hs.98959 1652385;2157817 HSC03D022;WI-14686 MGC157846 OTTHUMP00000206397;OTTHUMP00000206398;hypothetical protein LOC730112 protein-coding ENSG00000215187 HGNC:34242 VALIDATED 1353709 FAM167A-AS1 FAM167A antisense RNA 1 8 8 8 p23.1 10353939 10425009 + 11225911 11296166 + 11368402 11438657 + 11896452;12477932;20125193 83656 Q96KT0 ABBA01026880;ABBA01026881;AF131216;AJ301563;AMYH02017438;BC080558;CH471157;NR_026814 CAC82739;EAW65615;Q96KT0 Hs.583896 1340902;1658235;1713179;1850746;2119439;2174336;5093498 A009P42;D8S265;G32753;RH120376;RH66428;SGC33822;STS-W67504 C8orf12 APPROVED ncrna ENSG00000184608 HGNC:15548 PREDICTED 1314542 FAM160B1 family with sequence similarity 160, member B1 INTERACTS WITH all-trans-retinoic acid; formaldehyde; pirinixic acid 10 10 10 q25.3 110310694 110388784 + 116581503 116659586 + 114821744 114899827 + 737633;6480464 12477932 10997877;19322201;21906983;22505724 57700 Q5W0V1;Q5W0V3;Q5W0V4 AB046820;ABBA01062970;ABBA01062971;AI521900;AL137025;AL833226;AMYH02023856;AMYH02023857;BC037207;CR933692;NM_001135051;NM_020940 AAH37207;BAB13426;CAI45992;NP_001128523;NP_065991;Q5W0V3 Hs.192619 1335735;1664845;1684740;1723901;1736066;1752769;1767979;2120656 D10S1341E;D10S2280;D10S562;RH119463;RH27144;SHGC-106583;STS-N32594;STS-T87905 DKFZp686D10123;KIAA1600;RP11-106M7.3;bA106M7.3 OTTHUMP00000020550;OTTHUMP00000020551;hypothetical protein LOC57700;protein FAM160B1 protein-coding ENSG00000151553 HGNC:29320 17219 VALIDATED 1603805 FAM166A family with sequence similarity 166, member A FOUND IN nucleus; INTERACTS WITH propiconazole (ortholog); rosiglitazone (ortholog); valproic acid (ortholog) 9 9 9 q34.3 110653622 110657807 - 140138037 140142222 - 137243583 137247792 - 6480464 12477932;14702039 401565 C9JBW9;Q6J272 ABBA01022752;AK097419;AMYH02021928;AY604177;BC132916;BC132918;BX255925;CH471090;HY011475;HY229093;NM_001001710;XM_005266088;XM_006717108;XR_245332 AAI32917;AAI32919;AAT36740;ADR83124;BAC05044;EAW88371;EAW88372;NP_001001710;Q6J272;XP_005266145;XP_006717171 Hs.522530 2155579;2158314 DXS7003E;RH71271 FLJ40100;HSD46 OTTHUMP00000215779;hypothetical protein LOC401565 protein-coding ENSG00000188163 HGNC:33818 13441 VALIDATED 1602962 FAM169B family with sequence similarity 169, member B ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); thioacetamide (ortholog) 15 15 15 q26.3 75398171 75475245 - 98980391 99057611 - 98437162 98514382 - 6480464;8554872 14702039;21935397;22354554 283777 Q8N8A8 ABBA01020571;ABBA01020572;AC103968;AC118658;AK097062;AMYH02031137;AMYH02031138;NM_182562 AAI46359;AAI48844;BAC04940;NP_872368;Q8N8A8 Hs.668070 1761593 SHGC-145589 FLJ39743 hypothetical protein LOC283777 protein-coding ENSG00000185087 HGNC:26835 08265 VALIDATED 1604050 FAM168A family with sequence similarity 168, member A ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; cisplatin 11 11 11 q13.4 70422420 70614641 - 73111837 73309234 - 73400478 73598189 - 6480464;8554872 12477932;15489334;16344560;17207965;21139048;21334329;21603883;22365988;23251525;23284291;23824909;24722188;9039502 23201 Q92567 ABBA01017516;ABBA01017517;ABBA01017518;ABBA01017519;ABBA01017520;ABBA01017521;ABBA01017522;AK292054;AMYH02025087;AMYH02025088;AMYH02025089;AMYH02025090;AP000763;AP000860;BC014932;BC052341;CH471076;D87470;DB074440;EF197985;EF363480;NM_001286050;NM_001286051;NM_015159;XM_005273852;XM_006718482 AAH52341;ABM69272;ABM69287;ADQ33044;BAA13408;BAF84743;EAW74899;NP_001272979;NP_001272980;NP_055974;Q92567;XP_005273909;XP_006718545 Hs.475334 1664281;1665446;1666943;1674039;1737863;1772818;1782490;1791137;2125425;2156341 D11S3464;D11S4645;RH47899;SHGC-172588;SHGC-33836;STS-U23843;WI-12605;WI-16136;WI-19948;px-56c9 KIAA0280;TCRP1 OTTHUMP00000237537;OTTHUMP00000237538;OTTHUMP00000237539;hypothetical protein LOC23201;tongue cancer chemotherapy resistance-associated protein 1 protein-coding ENSG00000054965 HGNC:28999 VALIDATED 1606487 FAM167B family with sequence similarity 167, member B INTERACTS WITH methotrexate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p35.1 30982988 30984631 + 32712818 32714461 + 32247217 32248860 + 6480464 12477932;15489334;16710414;19913121;20628086 84734 Q9BTA0 ABBA01023434;AL121991;AMYH02000706;BC004269;BG282224;BX091465;CH471059;NG_023387;NM_032648 AAH04269;EAX07547;EAX07548;NP_116037;Q9BTA0 Hs.18449 1697086 RH102025 C1orf90;MGC10820 OTTHUMP00000008639;hypothetical protein LOC84734 protein-coding ENSG00000183615 HGNC:28133 14401 VALIDATED 1606974 FAM168B family with sequence similarity 168, member B FOUND IN extracellular vesicular exosome; INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 2 2 2 q21.1 124726677 124772234 + 131805449 131851033 - 131047876 131093443 - 6480464 12477932;14702039;20716133;21139048 130074 A1KXE4 ABBA01004565;ABBA01004566;ABBA01004567;ABBA01004568;AC009477;AK022529;AK023868;AL137406;AL137413;AL833819;AMYH02004803;AY253283;BC035115;BC066347;BC110642;BC127804;BX647486;CH471250;DB453209;NM_001009993;XM_005263591;XM_006712263;XM_006712264;XM_006712265;XM_006712266 A1KXE4;AAH66347;AAI10643;AAP79599;CAH10735;EAW51267;EAW51268;NP_001009993;XP_005263648;XP_006712326;XP_006712327;XP_006712328;XP_006712329 Hs.534679 1655426;2174281;2178056 A007I14;D2S1530E;WI-15107 MANI;MGC87527;p20 OTTHUMP00000203952;OTTHUMP00000203954;hypothetical protein LOC130074;myelin-associated neurite-outgrowth inhibitor protein-coding ENSG00000152102 HGNC:27016 17295 VALIDATED 7206910 FAM170B-AS1 FAM170B antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 10 10 10 43915471 43945180 + 50329884 50359592 + 49121839 49151547 + 8554872 12477932;14702039 100506733 ABBA01041075;AC084727;AI147416;AK093055;AMYH02022985;BC033360;HG502890;HG502891;NR_038973 Hs.404175 1686568 RH92257 RP11-507P23.3 ncrna ENSG00000234736 HGNC:45006 VALIDATED 1313160 FAM171A1 family with sequence similarity 171, member A1 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; arsenite(3-) 10 10 10 p13 15186204 15346555 - 15253642 15413058 - 15211643 15371059 - 6480464;8554872 12477932;14702039;15164054;15489334;20379614 221061 B3KMX9;Q5SW12;Q5VUB5;Q9Y438 ABBA01034588;ABBA01034589;ABBA01034590;AK022946;AL050367;AL139338;AL590365;AL607028;AMYH02022211;AMYH02022212;AMYH02022213;AY683003;BC034232;BC109302;BC109303;BX496483;CH471072;NM_001010924 AAH34232;AAI09303;AAI09304;AAV85904;BAG51141;CAB43675;EAW86236;EAW86237;NP_001010924;Q5VUB5 Hs.66762 1706924;1730401;1736012;5017431 D10S1296E;D10S1859;D10S239E;SHGC-80951 C10orf38;FLJ12884;MGC130014;MGC130015 OTTHUMP00000019205;astroprincin;hypothetical protein LOC221061 protein-coding ENSG00000148468 HGNC:23522 18581 VALIDATED 1344184 FAM167A family with sequence similarity 167, member A INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 8 8 8 p23-p22 10407815 10453655 - 11278972 11324276 - 11421463 11466767 - 6480464 11896452;12477932;18204098;19110536;19180478;19740902;20131239;20156505;20379614;20848568;20861858;21480188;22446962;23635951;23899688 83648 E9PIY0;Q96KS9 ABBA01026879;ABBA01026880;AF131216;AJ301564;AK290704;AL157475;AL522457;AL834122;AMYH02017438;AMYH02017439;BC029587;BC048214;BC104041;BC104042;BC104043;CH471157;KF458682;NM_053279;XM_005272398 AAH48214;AAI04042;AAI04043;AAI04044;ACE87786;ACT64454;BAF83393;CAB75670;CAC82740;CAD38843;EAW65616;NP_444509;Q96KS9;XP_005272455 Hs.124299 1340902;1658235;1850746;2119439;2174336;5093498 A009P42;D8S265;G32753;RH66428;SGC33822;STS-W67504 C8orf13;D8S265;DKFZp761G151;MGC120649;MGC120650;MGC120651 OTTHUMP00000159723;hypothetical protein LOC83648 protein-coding ENSG00000154319 HGNC:15549 12924 610085 VALIDATED 2298821 FAM171A2 family with sequence similarity 171, member A2 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH paracetamol; benzo[a]pyrene (ortholog) 17 17 17 q21.31 39140726 39150869 - 42431101 42441235 - 44353733 44363867 - 6480464;8554872 12477932;21890473;22139419 284069 A8MVW0;K7EMG4 ABBA01028375;ABBA01028376;AC003043;AMYH02033480;AMYH02033481;BC029298;BC030200;CH471178;NM_198475 A8MVW0;AAH30200;EAW51598;NP_940877 Hs.154001 1733368 D17S1183 MGC34829 OTTHUMP00000163259;hypothetical protein LOC284069 protein-coding ENSG00000161682 HGNC:30480 VALIDATED 1602273 FAM170A family with sequence similarity 170, member A ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN positive regulation of transcription, DNA-templated; transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus 5 5 5 q23.1 114918983 114925248 + 118965254 118971517 + 119629559 119635822 + 8554872 12477932;20162441 340069 A1A519;A2VCN0;D6RIE9 ABBA01068976;AC010409;AF427126;AMYH02012060;AY692447;BC040622;BC128242;BC128243;NM_001163991;NM_182761 A1A519;AAH40622;AAI28243;AAI28244;AAP97296;AAU04855;NP_001157463;NP_877438 Hs.713304 MGC149385;ZNFD OTTHUMP00000222955;OTTHUMP00000222956;OTTHUMP00000222957;OTTHUMP00000222958;OTTHUMP00000222959;Znf domain containing protein;zinc finger domain-containing protein;zinc finger protein ZNFD protein-coding ENSG00000164334 HGNC:27963 14174 VALIDATED 1346857 FAM170B family with sequence similarity 170, member B 10 10 10 q11.23 43924786 43927652 - 50339199 50342065 - 49131154 49134020 - 12477932 170370 A6NMN3 ABBA01041075;AC084727;AMYH02022985;BC029839;BC047597;NM_001164484 A6NMN3;AAH29839;AAH47597;NP_001157956 Hs.646291 C10orf73 OTTHUMP00000019571;putative protein FAM170B protein-coding ENSG00000172538 HGNC:19736 VALIDATED 1603183 FAM173B family with sequence similarity 173, member B FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper atom; copper(0) 5 5 5 p15.2 10266333 10289908 - 10225619 10250145 - 10225507 10249954 - 6480464 12477932;14702039;16328025;16344560;17207965;19416867;20379614;21802380;22956598;8681137 134145 D6RBE3;D6RIE0;J3KN90;Q6P4H8 AA856750;ABBA01020593;AC012640;AC034229;AK000674;AK055604;AK123462;AK300042;AK302012;AK316317;AMYH02010845;BC048801;BC063406;BG611454;CH471102;DA523490;DA843869;DW420473;F29251;GD160552;KF457858;NM_001258388;NM_001258389;NM_199133;NR_047668;NR_047669;NR_047670;XM_005248248 AAH63406;ADQ32608;BAG61853;BAG63414;BAH14688;EAX08073;EAX08074;NP_001245317;NP_001245318;NP_954584;Q6P4H8;XP_005248305 Hs.481569 1764361;1768832;1785768 SHGC-147960;SHGC-83804;WI-14366 FLJ20667;JS-2 OTTHUMP00000220721;OTTHUMP00000220722;OTTHUMP00000220723;hypothetical protein LOC134145 protein-coding HGNC:27029 14054 VALIDATED 1605018 FAM172A family with sequence similarity 172, member A ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene 5 5 5 q15 88812827 89307611 - 92953431 93447404 - 93617725 94111699 - 6480464;8554872 11076863;11230166;11256614;12477932;15489336;16381901;18854154;19322201;20137623;20360068;20379614;20818486;21092515;21139048;21890473;23314443;8619474;9110174 83989 B4DMI0;E9PBM2;Q8WUF8 ABBA01069275;ABBA01069276;ABBA01069277;ABBA01069278;ABBA01069279;ABBA01069280;ABBA01069281;ABBA01069282;ABBA01069283;AC093268;AC099501;AC106818;AC108102;AC114980;AC117528;AF070617;AK295127;AK295879;AK296683;AK296986;AK297471;AK312930;AL136630;AMYH02011803;AMYH02011804;AMYH02011805;AMYH02011806;BC012007;BC020584;BP398089;CH471084;DC324758;DC374283;KF573671;NM_001163417;NM_001163418;NM_032042;NR_028080;W15296;XM_005272103;XM_005272104;XM_005272105;XM_005272106;XM_005272107;XM_005272108;XM_005272109;XM_005272110;XM_005272111;XM_006714717;XM_006714718;XM_006714719 AAH20584;BAG35773;BAG58152;BAG58676;BAG59279;BAG59527;BAG59892;CAB66565;CAL37653;CAL37760;EAW96011;EAW96012;EAW96013;EAW96014;NP_001156889;NP_001156890;NP_114431;Q8WUF8;XP_005272160;XP_005272161;XP_005272162;XP_005272163;XP_005272164;XP_005272165;XP_005272166;XP_005272167;XP_005272168;XP_006714780;XP_006714781;XP_006714782 Hs.600086 1676304;1704828;1720931;1749331;1749551;1750453;1785244;1785250;1785360;2138306;2141893;2152859;5110978 A008J20;G59295;L31488;RH92220;SHGC-102491;SHGC-102777;SHGC-111091;SHGC-111250;SHGC-111763;SHGC-112151;SHGC-57089;SHGC-79884;STS-Z21965 C5orf21;DKFZp564D172 OTTHUMP00000162006;OTTHUMP00000222439;OTTHUMP00000222440;OTTHUMP00000222441;OTTHUMP00000222442;hypothetical protein LOC83989 protein-coding ENSG00000113391 HGNC:25365 13210 VALIDATED 1354368 FAM171B family with sequence similarity 171, member B ENCODES a protein that exhibits DNA binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 3,3',5-triiodo-L-thyronine; arsenite(3-) 2 2 2 q32.1 181154411 181224139 + 187558789 187630686 + 186694062 186765959 + 737633;6480464 12477932 11853319;14702039;21988832 165215 Q6P995 AB075826;ABBA01062341;AC017101;AF361495;AK091423;AK094578;AK095604;AK289737;AL834264;AMYH02005408;BC036478;BC060872;CH471058;NM_177454;XM_005246362 AAH36478;AAH60872;AAL57220;AAY24258;BAB85532;BAC03660;BAC04380;BAC04586;BAF82426;CAD38939;EAX10930;EAX10931;EAX10932;NP_803237;Q6P995;XP_005246419 Hs.28872 1708606;1857004;2120426;2139471;2184711;5108630 D2S2028;D2S225;D2S2500;SHGC-85093;WI-11078;WI-17454 FLJ34104;KIAA1946 OTTHUMP00000205448 protein-coding ENSG00000144369 HGNC:29412 13907 VALIDATED 1601696 FAM174A family with sequence similarity 174, member A FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; atrazine; bilirubin 5 5 5 q21.1 95818712 95870036 + 99871051 99922440 + 100535347 100586741 + 6480464 12477932;12975309;15489334;16274251 345757 Q8TBP5 ABBA01069170;AC021086;AF529367;AK289539;AMYH02011856;AY359108;BC027332;CH471086;NM_198507;XM_006714600 AAH27332;AAQ09601;AAQ89466;ADZ15962;BAF82228;EAW49106;NP_940909;Q8TBP5;XP_006714663 Hs.356108 1663509;1743529;2126169;2130194 A006U45;D5F139S1;SGC30392;SHGC-14889 MGC17345;TMEM157;UNQ1912 HCV NS5A-transactivated protein 6;HGS_RE408;OTTHUMP00000158914;hepatitis C virus NS5A-transactivated protein 6;membrane protein FAM174A;transmembrane protein 157 protein-coding ENSG00000174132 HGNC:24943 18260 PROVISIONAL 2298809 FAM172BP family with sequence similarity 172, member B, pseudogene FOUND IN integral component of membrane (inferred) 3 3 3 q12.3 99630058 99635066 + 101237711 101242731 + 101518867 101523887 + 131909 A6NC97 ABBA01061774;AC073861;AK127584;AMYH02007315;EG328077;NR_036433 A6NC97 Hs.518125 5037552 D8S2279 FAM172B;FLJ45679 APPROVED pseudo HGNC:34336 VALIDATED 1606862 FAM174B family with sequence similarity 174, member B FOUND IN integral component of membrane (inferred); INTERACTS WITH coumestrol; menadione; trichostatin A 15 15 15 q26.1 69572621 69610827 - 93160678 93199031 - 92617448 92655801 - 6480464 12477932;16303743;21160409;21890473 400451 G3V5D1;H3BP98;H3BPY1;H3BR69;H3BTJ4;Q3ZCQ3 ABBA01053092;ABBA01053093;AC091544;AK075564;AL110139;AL110289;AMYH02031071;AMYH02031072;AMYH02031073;BC031970;BC045729;BC060873;BC110328;CH471101;CS051461;NM_207446 AAH45729;AAH60873;BAC11703;CAI72222;EAX02154;EAX02155;NP_997329;Q3ZCQ3 Hs.27373;Hs.702316 2133167;2177675 D15S717E;RH44364 MGC102891 OTTHUMP00000246762;membrane protein FAM174B protein-coding ENSG00000185442 HGNC:34339 14220 VALIDATED 1318962 FAM175B family with sequence similarity 175, member B ENCODES a protein that exhibits polyubiquitin binding; INVOLVED IN cellular response to freezing (inferred); FOUND IN BRISC complex; INTERACTS WITH valproic acid; bis(2-ethylhexyl) phthalate (ortholog); tamoxifen (ortholog) 10 10 10 q26.13 120264282 120299165 + 126490354 126525239 + 124801785 124836670 + 737633;6480464 12477932 15144186;15231748;15489334;16344560;17081983;17353931;19214193;19261749;19322201;19380743;19615732;20032457;20656690;21139048;21195082;21282113;21890473;21906983;21963094;21987572;22863883;23314748;24255178;24816145;8590280 23172 Q15018 ABBA01034152;ABBA01034153;ABBA01034154;AC068896;AK025991;AK296677;AL537809;AMYH02023983;AMYH02023984;BC008999;BQ000004;CH471066;D63877;DA148097;NM_032182 AAH08999;BAA09927;BAG59274;EAW49256;EAW49257;NP_115558;Q15018 Hs.280695 1768579;2156809;2165220;2190591 D10S2179;EST-CFZ97746;RH11277;RH25376 ABRO1;FLJ22338;KIAA0157 BRISC complex subunit Abro1;OTTHUMP00000020697;abraxas brother 1;abraxas brother protein 1 protein-coding ENSG00000165660 HGNC:28975 13783 611144 VALIDATED 2301270 FAM177A1P1 family with sequence similarity 177, member A1 pseudogene 1 4 4 4 q23 97174646 97183602 + 99877150 99886107 + 98955999 98964956 + 15815621;9847074 728710 ABBA01063667;AC019131;AMYH02009795;NG_011746 1724381 RH122714 FAM177A2 APPROVED pseudo HGNC:34441 INFERRED 1342850 FAM177A1 family with sequence similarity 177, member A1 INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; methyl methanesulfonate 14 14 14 q13.2 15377941 15416411 + 35514113 35552589 + 35044907 35083383 + 6480464 12477932;14702039;15489334;19663910;21139048;21890473;23000965;25015289 283635 G3V3Z5;G3V583;H0YJC3;H0YJX7;Q8N128;R4GN97 ABBA01061497;AI148967;AK096173;AL049776;AL833508;AMYH02029005;BC029559;BG700755;BX640884;BX640984;CD678775;CH471078;CR749796;NM_001079519;NM_001289022;NM_173607;XM_005267548;XM_005267549 AAH29559;BAC04716;CAH18656;EAW65892;NP_001072987;NP_001275951;NP_775878;Q8N128;XP_005267605;XP_005267606 Hs.446357 1645842;1655059;2126192;2138308;2158339;5017170;5037552 D14S723;D8S2279;G35396;G36267;G36277;L29953;RH69612 C14orf24;DKFZp686J1254;FLJ38854 OTTHUMP00000178815;OTTHUMP00000244637;OTTHUMP00000245884;hypothetical protein LOC283635 protein-coding ENSG00000151327 HGNC:19829 12644 VALIDATED 1349080 FAM178A family with sequence similarity 178, member A ASSOCIATED WITH Melanoma (inferred); FOUND IN chromatin; extracellular space; nucleus; INTERACTS WITH cobalt dichloride; copper(2+) sulfate; coumestrol 10 10 10 q24.31 96410079 96462617 + 102672326 102724891 + 100912569 100965134 + 6480464;8554872 12459258;12477932;14702039;15164054;15840729;16385451;17081983;19322201;20195357;21139048 55719 B1AL16;Q8IX21 AA829402;ABBA01063213;ABBA01063214;ABBA01063215;ABBA01063216;AF460991;AF460992;AI282394;AK001374;AK024283;AK057741;AK292565;AL133215;AL138762;AL832343;AL832383;AL833126;AMYH02023661;AMYH02023662;AMYH02023663;BC015131;BC020915;BC030565;BC047715;BC064526;BC073832;CH471066;NM_001136123;NM_001243770;NM_018121;XM_005269965;XM_006717913 AAH20915;AAH47715;AAH73832;AAI60007;AAN84475;BAA91657;BAB71557;BAF85254;EAW49805;EAW49806;EAW49807;EAW49808;NP_001129595;NP_001230699;NP_060591;Q8IX21;XP_005270022;XP_006717976 Hs.447458;Hs.732620 1684054;1688162;1851683;2135324;2155508 A004M06;AFMA133ZE1;RH75803;RH92408;SHGC-3905 C10orf6;MGC90157 OTTHUMP00000020300;OTTHUMP00000020301;hypothetical protein LOC55719 protein-coding ENSG00000119906 HGNC:17814 12581 610348 VALIDATED 1604576 FAM175A family with sequence similarity 175, member A ENCODES a protein that exhibits polyubiquitin binding; INVOLVED IN double-strand break repair; positive regulation of DNA repair; response to ionizing radiation; ASSOCIATED WITH Neoplastic Syndromes, Hereditary (inferred); FOUND IN BRCA1-A complex; nucleus; INTERACTS WITH all-trans-retinoic acid; coumestrol; cyclosporin A 4 4 4 q21.23 81672544 81696745 - 84382092 84406290 - 83460939 83485137 - 6480464;8554872 12477932;12938929;12975309;14702039;15489334;16196087;16344560;17525340;17643121;17643122;18077395;18270812;18695986;19015238;19261746;19261748;19261749;19305427;19415121;19615732;19766185;20656689;20656690;21139048;21282113;21437268;21529986;21890473;21906983;21963094;22357538;22689573;22792303;22990118;23000965;23211528;23264621;23416467;24250222 84142 D6RAN3;D6REL5;D6RHI5;E9PHB9;Q6UWZ7 ABBA01063465;AC096768;AK021582;AK022704;AK023676;AMYH02009618;AY358576;BC016905;BC039573;BQ775930;CH471057;DA765424;EF531340;NM_139076;XM_005263280;XM_005263281;XM_006714341 AAH16905;AAH39573;AAQ88939;ABP87396;BAB14189;BAB14635;EAX05941;EAX05942;EAX05943;NP_620775;Q6UWZ7;XP_005263337;XP_005263338;XP_006714404 Hs.334772 1699530;2156230;2167987;5015404;5020946;5037552;5109281 D1S1425;D8S2279;G30051;L17705;L17971;RH103362;RH71183 ABRA1;CCDC98;FLJ11520;FLJ12642;FLJ13614 BRCA1-A complex subunit Abraxas;OTTHUMP00000160985;OTTHUMP00000221470;abraxas protein;coiled-coil domain containing 98;coiled-coil domain-containing protein 98 protein-coding HGNC:25829 08584 611143 VALIDATED 2300032 FAM169A family with sequence similarity 169, member A ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper atom; copper(0) 5 5 5 q13.3 69968151 70057308 - 74073399 74163832 - 74777574 74868005 - 6480464;8554872 10048485;12477932;14702039;15174051;16344560;21890473;21906983;22412018 26049 D6R953;D6RB01;D6RC41;D6RFI5;Q9Y6X4 AB020695;ABBA01061935;ABBA01061936;ABBA01061937;AC010501;AC093214;AK022981;AK290004;AMYH02011577;AMYH02011578;AMYH02011579;BC040298;BC044766;BX494462;BX640902;BX647536;CH471084;CR936791;DA326879;DB024270;NM_015566;NR_046462;XM_005248479;XM_005248480 BAA74911;BAB14344;BAF82693;CAE45948;EAW95750;NP_056381;Q9Y6X4;XP_005248536;XP_005248537 Hs.91662 1657025;1671048;1735550;1752189;1752899;1785316 D5S1674E;D5S1738;D5S1858;SHGC-106085;SHGC-106799;SHGC-111475 KIAA0888;SLAP75 OTTHUMP00000222941;OTTHUMP00000222944;hypothetical protein LOC26049;soluble lamin-associated protein of 75 kDa;soluble lamina-associated protein of 75 kD protein-coding ENSG00000198780 HGNC:29138 615769 VALIDATED 1605784 FAM177B family with sequence similarity 177, member B INTERACTS WITH (-)-epigallocatechin 3-gallate; cadmium atom; potassium chromate 1 1 1 q41 196129726 196143178 + 222910558 222926932 + 222737216 222753590 + 6480464 19734545 400823 A6PVY1;A6PVY2;A6PVY3 ABBA01048046;AK125494;AL392172;AMYH02002750;CA848039;NM_207468;XM_006711318 A6PVY3;BAC86182;NP_997351;XP_006711381 Hs.697608 1709504 SHGC-81812 FLJ43505;RP11-452F19.2 OTTHUMP00000196554;OTTHUMP00000196556;OTTHUMP00000196557;hypothetical protein LOC400823;novel transcript protein-coding ENSG00000197520 HGNC:34395 16965 VALIDATED 1321397 FAM179B family with sequence similarity 179, member B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-demecolcine; cyclosporin A; ethyl methanesulfonate 14 14 14 q21.2 25292672 25404888 + 45431416 45543634 + 44962213 45074431 + 1580863;6480464;8554872 12168954;12477932;14702039;15489334;16335990;17549794;9455477 23116 G3V3B1;G3XAE9;H0YIY7;H0YJ89;Q6P183;Q9Y4F4 AB007883;ABBA01018045;ABBA01018046;ABBA01018047;ABBA01018048;AK096934;AK295185;AK311034;AL049870;AL121809;AMYH02029101;BC057255;BC065234;BX648723;CH471078;CR749557;NM_015091;XM_005267451;XM_006720083;XR_245674 AAH57255;AAH65234;BAA24853;BAG58189;CAH18354;EAW65790;EAW65791;NP_055906;Q9Y4F4;XP_005267508;XP_006720146 Hs.371078 1774720;1858311;2134596;2137895;2175904;5015619;5037552 D11S3114;D8S2279;G35750;G36268;SGC38165;SHGC-30827;SHGC-64131 DKFZp686D12126;KIAA0423 OTTHUMP00000178914;OTTHUMP00000178915;hypothetical protein LOC23116 protein-coding ENSG00000198718 HGNC:19959 11082 VALIDATED 2298817 FAM180B family with sequence similarity 180, member B FOUND IN integral component of membrane (inferred) 11 11 11 p11.2 47750958 47753509 + 47608230 47610746 + 47586678 47589194 + 12477932 399888 Q6P0A1 ABBA01060699;AC104942;AMYH02024734;BC065704;CB999847;NM_001164379 AAH65704;NP_001157851;Q6P0A1 Hs.502529 5023733 AU048745 OTTHUMP00000237139;hypothetical gene supported by BC065704;hypothetical protein LOC399888 protein-coding ENSG00000196666 HGNC:34451 VALIDATED 1345866 FAM181A-AS1 FAM181A antisense RNA 1 INTERACTS WITH (+)-catechin 14 14 14 q32.12 74424840 74446481 - 94371076 94392718 - 93904730 93926372 - 12477932 283592 ABBA01030427;AK125743;AL132642;AMYH02029776;BC029883;BC037859;LN608536;NR_027004 Hs.585648 1338763;1685622;2118120;2122379;2150302;2163479 D14S744;D14S749;G10562;GDB:314207;IB1274;RH93218 C14orf86 APPROVED ncrna ENSG00000258584 HGNC:20133 PREDICTED 1603353 FAM179A family with sequence similarity 179, member A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH zinc atom; zinc(0); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 p23.2 29048978 29119488 + 29204164 29275096 + 28981298 29052230 + 6480464;8554872 16344560;20125088;24376456 165186 B5MCN5;C9JJW1;C9JLI7;Q6ZUX3 ABBA01045243;AC105398;AK125239;AK125744;AK296977;AMYH02003502;AMYH02003503;AMYH02003504;BI768759;BQ772038;CH471053;DA213268;DA460119;NM_199280;XM_006711954 BAC86095;BAC86270;BAG59519;EAX00519;EAX00520;NP_954974;Q6ZUX3;XP_006712017 Hs.525977 1341018;1700400;1749963;7186714 D2S170;RH103820;SHGC-111670 OTTHUMP00000197215;hypothetical protein LOC165186 protein-coding HGNC:33715 14110 VALIDATED 1343313 FAM173A family with sequence similarity 173, member A FOUND IN integral component of membrane (inferred); INTERACTS WITH cobalt dichloride; copper(2+) sulfate; diazinon 16 16 16 p13.3 971323 972755 + 770581 772655 + 720581 722590 + 6480464 11157797;12477932;15489334;16169070 65990 H3BPE8;H3BQW1;J3KMW5;Q9BQD7 ABBA01030353;AE006464;AI492179;AK123186;AMYH02031205;BC001181;BC002624;BI597021;BI838160;CH471112;NG_032932;NM_001271285;NM_023933;XR_243298;Z98258 AAH01181;AAH02624;AAK61248;EAW85746;NP_001258214;NP_076422;Q9BQD7 Hs.166244 C16orf24;MGC2494 OTTHUMP00000149991;hypothetical protein LOC65990 protein-coding ENSG00000103254 HGNC:14152 14500 VALIDATED 1605261 FAM181B family with sequence similarity 181, member B INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; cisplatin 11 11 11 q14.1 79752906 79754766 - 82443046 82444906 - 82732004 82733864 - 6480464 12477932;14702039 220382 A6NEQ2 ABBA01017369;AK095054;AMYH02025190;AP002796;BC039262;BC150621;BE857184;BE858471;CH471076;NM_175885 A6NEQ2;AAI50622;EAW75073;NP_787081 Hs.448218 1671207;1722087 G60085;WI-16283 MGC33846 OTTHUMP00000234258;hypothetical protein LOC220382 protein-coding HGNC:28512 14575 VALIDATED 1604688 FAM180A family with sequence similarity 180, member A FOUND IN extracellular region (inferred); INTERACTS WITH arsenite(3-); atrazine; dasatinib (anhydrous) 7 7 7 q33 130151804 130171052 - 135413096 135433616 - 135728348 135748868 - 6480464 10737800;12477932;12690205;12975309;23251661;24024966 389558 Q6UWF9 ABBA01001126;AC091736;AK290250;AK297754;AK310180;AL597791;AMYH02016824;AMYH02016825;AX055829;AY358803;BC137311;BC137312;BI040280;BU617005;CH236950;CS498401;NM_205855;XM_005250338;XM_006715983 AAI37312;AAI37313;AAQ89163;BAF82939;BAG60104;CAC22103;CAM82730;EAL24057;NP_995327;Q6UWF9;XP_005250395;XP_006716046 Hs.55200 1857879 RH46984 HWKM1940;UNQ1940 OTTHUMP00000208201;OTTHUMP00000208539;hypothetical protein LOC389558 protein-coding ENSG00000189320 HGNC:33773 15613 VALIDATED 1319141 FAM181A family with sequence similarity 181, member A INTERACTS WITH aflatoxin B1; pirinixic acid (ortholog) 14 14 14 q32.12 74439021 74449713 + 94385240 94395954 + 93918894 93929608 + 6480464 12477932;14702039;15489334;16344560;18029348 90050 G3V5K4;Q8N9Y4 ABBA01030427;AK093387;AK315393;AL132642;AMYH02029776;AY255795;BC009073;CH471061;CX870424;DB058808;NM_001207071;NM_001207072;NM_001207073;NM_001207074;NM_138344 AAH09073;AAP15252;BAC04151;BAG37786;EAW81537;EAW81538;NP_001194000;NP_001194001;NP_001194002;NP_001194003;NP_612353;Q8N9Y4 Hs.525550 1688414;2118120 IB1274;RH94166 C14orf152 OTTHUMP00000245750;OTTHUMP00000245751;OTTHUMP00000245752;OTTHUMP00000245753;hypothetical protein LOC90050 protein-coding ENSG00000140067 HGNC:20491 12636 VALIDATED 2299984 FAM183A family with sequence similarity 183, member A INTERACTS WITH 6-propyl-2-thiouracil (ortholog); chloroprene (ortholog); methimazole (ortholog) 1 1 1 p34.2 41895704 41904179 + 43610800 43622067 + 43145132 43156396 + 6480464 11181995;16710414;18854154 440585 A6NL82;B7ZBL6;B7ZBL7;B7ZBL9;B7ZBM0 ABBA01050962;AI192630;AI375550;AL139138;AMYH02000895;CH471059;NM_001101376;XM_005270875;XM_005270876 A6NL82;EAX07119;NP_001094846;XP_005270932;XP_005270933 Hs.657614 1656366;2126965;2135804 G34870;RH69972;SHGC-34195 hCG23177 OTTHUMP00000204115;OTTHUMP00000204116;OTTHUMP00000204117;OTTHUMP00000204118 protein-coding ENSG00000186973 HGNC:34347 VALIDATED 7246558 FAM183CP family with sequence similarity 183, member C, pseudogene 8 8 8 p12 28738261 28770351 + 29779029 29811125 + 29921513 29953609 + 12477932 286135 ABBA01023675;AC131254;AL833525;AMYH02017708;BC028745;BC045833;BC126344;HG501023;HG501024;NR_024473 Hs.376840 RP11-94H18.3 ncrna ENSG00000253279 HGNC:27827 VALIDATED 1605679 FAM178B family with sequence similarity 178, member B INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); paracetamol (ortholog) 2 2 2 q11.2 91981818 92094500 - 97541619 97652337 - 96870475 96986600 - 6480464 11042152;12477932;16169070;16344560;18976975 51252 B3KV66;Q8IXR5 ABBA01036565;ABBA01036566;ABBA01036567;ABBA01036568;ABBA01036569;ABBA01036570;ABBA01036571;ABBA01036572;AC079395;AC092636;AF151068;AJ710728;AK122705;AK308698;AMYH02004337;AMYH02004338;AMYH02004339;BC038583;BC039488;BC051379;BI826484;BX103404;CH471207;DA357118;N68280;NM_001122646;NM_001172667;NM_016490;XM_006712564;XM_006712565;XM_006712566;XR_427090 AAF36154;AAH38583;AAH39488;AAH51379;AAY14968;BAG53678;EAW71321;EAW71322;EAW71323;NP_001116118;NP_001166138;NP_057574;Q8IXR5;XP_006712627;XP_006712628;XP_006712629 Hs.107922 1732575;2166061 D10S1137;WI-10308 OTTHUMP00000207741;OTTHUMP00000207742;hypothetical protein LOC51252 protein-coding ENSG00000168754 HGNC:28036 14235 VALIDATED 2301273 FAM184B family with sequence similarity 184, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH lead(0); lead(2+); ammonium chloride (ortholog) 4 4 4 p16 18098690 18248116 - 17633696 17783135 - 17632073 17781512 - 6480464;8554872 10574462;14702039;21963094;24324551 27146 Q9ULE4 AB033102;ABBA01032614;ABBA01032615;ABBA01032616;ABBA01032617;AC005768;AC006160;AK027311;AK308144;AMYH02008823;AMYH02008824;AMYH02008825;AMYH02008826;AMYH02008827;CH471069;NM_015688 BAA86590;EAW92783;NP_056503;Q9ULE4 Hs.744951 1340351;1714179;1849075;2136077;2151099;2172228;5024413 D4S1043;D4S2946;L17877;RH119699;RH47849;SHGC-24746;SHGC-36184 KIAA1276 OTTHUMP00000217983;hypothetical protein LOC27146 protein-coding HGNC:29235 VALIDATED 2299181 FAM182B family with sequence similarity 182, member B INTERACTS WITH hydralazine; valproic acid 20 20 20 p11.1 25823846 26090175 + 25744102 25781927 - 25763466 25801291 - 6480464 11780052;12477932;15489334 728882 F6T327;J3QS56;Q5T319 ABBA01048714;AL096727;AL390198;AMYH02036856;AMYH02036857;AMYH02036858;AMYH02036859;AMYH02036860;AMYH02036861;AMYH02036862;AMYH02036863;AMYH02036864;AMYH02036865;AMYH02036866;AMYH02036867;AMYH02036868;AMYH02036869;BC042812;NR_026714;NR_027061 Q5T319 Hs.682103 1649999;1679485 RH99031;Z94454 DKFZp434B104;MGC51338 ncrna HGNC:34503 PREDICTED 1347876 FAM182A family with sequence similarity 182, member A INTERACTS WITH cadmium atom; levonorgestrel 20 20 20 p11.1 26070349 26084045 + 26035250 26067553 + 26054614 26086917 + 6480464 11780052;12477932;14702039 284800 A2A3U3;A2A3U4;Q5T1J6 ABBA01005169;ABBA01018457;AK095693;AL391119;AL450124;AMYH02036887;BC131537;NR_026713 BAC04609;Q5T1J6 Hs.516956 1679485 RH99031 C20orf91;FLJ38374;bB329D4.1 ncrna ENSG00000125804 HGNC:16222 08240 PREDICTED 9587453 FAM183DP family with sequence similarity 183, member D, pseudogene 2 2 102866227 102866858 - 102249767 102250398 - 101060105 ABBA01073899;AC007248;AMYH02004435 pseudo HGNC:51331 MODEL 2299983 FAM183B family with sequence similarity 183, member B INTERACTS WITH 6-propyl-2-thiouracil (ortholog); chloroprene (ortholog); methimazole (ortholog) 7 7 7 p14.1 38712794 38714537 - 38724946 38726689 - 38685346 38687089 - 6480464 12477932;16344560 340286 Q6ZVS7 ABBA01056930;AC011309;AI217903;AK124132;AMYH02015556;BC045803;BG772121;CH236951;DB047796;NR_028347 BAC85784;EAL23991 Hs.144075 pseudo ENSG00000164556 HGNC:34511 VALIDATED 2301116 FAM185BP family with sequence similarity 185, member B pseudogene 7 7 7 q11.23 71260489 71265211 - 76713047 76751683 - 77083730 77122366 - 23251661;9847074 641808 ABBA01057997;AC007000;AMYH02016096;NG_009751 1707070;1726565;1727031;1756087 G62664;G62914;SHGC-142880;SHGC-81291 FAM185B APPROVED pseudo HGNC:21813 INFERRED 6482918 FAM187A family with sequence similarity 187, member A FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); choline (ortholog); folic acid (ortholog) q21.31 6480464 14702039;16625196 100528020 A6NFU0 AC015936;AK023156 A6NFU0 Hs.743398 1853861;2148774;2167075 RH78023;SHGC-24053;WI-13537 FLJ13094 Ig-like V-type domain-containing protein FAM187A protein-coding HGNC:35153 1603571 FAM187B family with sequence similarity 187, member B FOUND IN integral component of membrane (inferred); INTERACTS WITH furan (ortholog); paracetamol (ortholog) 19 19 19 q13.12 32429153 32433077 - 35715704 35719628 - 35224801 35228725 - 6480464 12477932 148109 Q17R55 ABBA01018736;AC002128;AK098526;AMYH02035978;BC039080;BC117457;BC117459;HC007342;NM_152481 AAI17458;AAI17460;ADR82985;BAC05322;CBH19476;NP_689694;Q17R55 Hs.128069 1697550 RH102283 FLJ25660;TMEM162 OTTHUMP00000226755;transmembrane protein 162 protein-coding ENSG00000177558 HGNC:26366 08071 PROVISIONAL 2301117 FAM186A family with sequence similarity 186, member A ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH indole-3-methanol (ortholog); N-acetyl-L-cysteine (ortholog); N-nitrosodiethylamine (ortholog) 12 12 12 q13.12 49516875 49586366 - 50721095 50790405 - 50326230 50396635 - 6480464;8554872 12477932;16541075 121006 A6NE01;F5GYN0;F5H8C1;H0YFA1 ABBA01031567;ABBA01031568;ABBA01031569;ABBA01031570;ABBA01031571;ABBA01031572;AC090058;AC140061;AL833333;AMYH02026457;AMYH02026458;AMYH02026459;BC054024;BC140703;NM_001145475;XM_006719231 A6NE01;AAI40704;NP_001138947;XP_006719294 Hs.133187 5037552 D8S2279 OTTHUMP00000237185;OTTHUMP00000237187 protein-coding ENSG00000185958 HGNC:26980 PROVISIONAL 1604773 FAM186B family with sequence similarity 186, member B This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] 12 12 12 q13.12 48771118 48793893 - 49976658 49999433 - 49582870 49605650 - 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16344560;16381901 84070 B4DZ15;E9PMM1;F8VRJ5;H0YIB0;Q8IYM0 ABBA01031528;AC020612;AI829695;AK093242;AK302702;AL136748;AL713673;AMYH02026447;BC035621;CH471111;DB087952;DC402111;NG_032901;NM_032130;NR_027450;XM_006719625;XM_006719626;XM_006719627 AAH35621;BAG52677;BAG63927;CAB66682;CAD28479;CAL38243;EAW58082;EAW58083;NP_115506;Q8IYM0;XP_006719688;XP_006719689;XP_006719690 Hs.524406 1670586;1853023 259VF9;SHGC-74169 C12orf25;DKFZp434J0113;DKFZp434N2350 OTTHUMP00000235922;hypothetical protein LOC84070 APPROVED protein-coding ENSG00000135436 HGNC:25296 08535 VALIDATED 2306135 FAM188B2 family with sequence similarity 188, member B2 INTERACTS WITH (-)-selegiline (ortholog); 1,2,4-trimethylbenzene (ortholog); 17alpha-ethynylestradiol (ortholog) 3 3 q25.1 149001782 149033992 - 150588832 150621044 - 6480464 16641997;20379614;20717163 646951 A8MYZ0;H3BNN4 AC016142;AC020636;AC108674;HM626137;HM626138;HM626139;XM_001717355;XM_929916 A8MYZ0;XP_001717407;XP_935009 Hs.380222;Hs.745448 1706114;1853030;2148253 D3S3413;D3S3968;SHGC-80096 C3orf76;CLRN1 Putative UPF0526 protein B;UPF0526 protein B-like protein-coding HGNC:35475 1322675 FAM184A family with sequence similarity 184, member A ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH all-trans-retinoic acid; trichostatin A; valproic acid 6 6 6 q22.31 120025627 120214634 - 119280992 119470552 - 118959829 119149193 - 6480464;8554872 11230166;12477932;14702039;15489334;16344560;20379614;21139048;21145461;21832049;21890473;22118674;22792062 79632 B9DI78;E7EQ67;H0Y672;H0YBA5;H0YBC0;H0YBE3;H0YBZ6;H7BY63;Q6P9G8;Q8NB25 ABBA01026019;ABBA01026020;ABBA01026021;ABBA01026022;ABBA01026023;ABBA01026024;AI457286;AJ420503;AJ420563;AK024004;AK091682;AK127744;AK308316;AL132874;AL136767;AL137009;AL365275;AMYH02014375;AMYH02014376;AMYH02014377;AMYH02014378;AMYH02014379;AU160036;AY131226;BC009055;BC060769;BX538186;BX640728;CH471051;DA717412;DB237883;NM_001100411;NM_001288576;NM_024581 AAH09055;AAH60769;AAN07912;ACE87824;ACT64398;BAB14769;BAC03719;BAC87110;CAB66701;CAD98058;CAE45844;EAW48188;EAW48189;EAW48190;NP_001093881;NP_001275505;NP_078857;Q8NB25 Hs.443789 1337724;1675674;1701124;1732609;1763817;1777683;1785846;1846877;2187164;7187780 D6S304;D6S950;RH104190;RH68100;RH78972;RH81046;SHGC-108140;SHGC-147486;WI-21037 C6orf60;FLJ13942 OTTHUMP00000017103;OTTHUMP00000227873;OTTHUMP00000227874;OTTHUMP00000227875;hypothetical protein LOC79632 protein-coding ENSG00000111879 HGNC:20991 09856 VALIDATED 1601709 FAM185A family with sequence similarity 185, member A INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); bis(2-ethylhexyl) phthalate (ortholog) 7 7 7 q22.1 97255888 97256824 + 102389399 102449672 + 102748949 102850008 + 6480464 12477932;14702039;16344560;18029348;23251661 222234 C9JFL0;F8WFC0;Q8N0U4 ABBA01057997;AC005250;AC006477;AC105052;AC243838;AK054745;AK297455;AK298753;BC029175;CH471070;DB192367;DR006842;NM_001145268;NM_001145269;NR_026879;XM_006715896 AAH29175;ABM84285;ABM87677;BAG59879;BAG60895;EAW83297;NP_001138740;NP_001138741;Q8N0U4;XP_006715959 Hs.202543 1647324;1707070;1726565;1727031;1756087 G62664;G62914;SHGC-142880;SHGC-81291;WI-16885 MGC35361 OTTHUMP00000205148;OTTHUMP00000212400;hypothetical protein LOC222234 protein-coding HGNC:22412 11343 VALIDATED 1320032 FAM188A family with sequence similarity 188, member A C10ORF97 is a member of the caspase-associated recruitment domain (CARD) family of proteins that play a role in apoptosis (Liu et al., 2002 [PubMed 12054670]).[supplied by OMIM, Mar 2008] 10 10 10 p13 15753418 15835764 - 15820173 15902519 - 15778169 15860520 - 737633;6480464 12477932 12054670;14702039;16169070;17207965;17652099;18029348;21139048;21499297;21890473;21906983;21963094;23000965 80013 Q9H8M7;X6R9S5;X6RC30;X6RC97 AB014761;ABBA01034580;ABBA01034581;AF063600;AF176916;AK023459;AL590439;AL833873;AMYH02022217;AMYH02022218;BC020605;BC061585;BC067799;CH471072;CR457315;NM_024948;XM_005252598;XM_005252600;XM_005252601;XM_005252602;XM_006717508;XR_428647 AAG43159;AAH20605;AAH61585;AAH67799;AAQ13660;ADQ32077;BAB14582;BAB87802;CAD38730;CAG33596;EAW86233;EAW86234;NP_079224;Q9H8M7;XP_005252655;XP_005252657;XP_005252658;XP_005252659;XP_006717571 Hs.158870 1674001;1714025;2110533;2113932;2168243 AB070132;MARC_43417-43418:1095094009:1;RH119444;WI-13843;WI-17514 C10orf97;CARP;DERP5;FLJ13397;MST126;MSTP126;RP11-394I23.1;my042 CARD-containing protein;OTTHUMP00000019208;caspase recruitment domain containing pro-apoptotic protein;chromosome 10 open reading frame 97;dermal papilla-derived protein 5 APPROVED protein-coding ENSG00000148481 HGNC:23578 10702 611649 VALIDATED 7371204 FAM187B2P family with sequence similarity 187, member B2, pseudogene 19 19 19 32436642 32437355 - 35723193 35723906 - 35232290 35233003 - 100421621 ABBA01018736;AC002128;AMYH02035978;NG_024180 pseudo HGNC:49213 INFERRED 1314529 FAM189B family with sequence similarity 189, member B This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 1 1 1 q21 128290272 128298549 - 155216996 155225274 - 155247205 155255483 - 6480464;8554872 12477932;14702039;15064722;15123239;17452746;21890473;21963094;23317259;8619474;9110174;9331372 10712 D6RD59;P81408;Q96AD8;Q9Y6J7 ABBA01016711;AF023268;AF070550;AK093335;AL353941;AL713999;AMYH02001941;AMYH02001942;BC006297;BC006493;BC007444;BC008854;BC010471;BC017262;BC033707;BC040136;CH471121;NM_001267608;NM_006589;NM_198264;XM_005244845;XM_005244847;XM_005244848;XM_005276738;XM_005276740;XM_005276741;XM_006711126;XM_006711127;XM_006726209;XM_006726210 AAC28638;AAC51822;AAH06297;AAH06493;AAH07444;AAH08854;AAH10471;AAH17262;AAH40136;ABZ92294;EAW53094;EAW53095;EAW53096;EAW53097;EAW53098;EAW53099;NP_001254537;NP_006580;NP_937995;P81408;XP_005244902;XP_005244904;XP_005244905;XP_005276795;XP_005276797;XP_005276798;XP_006711189;XP_006711190;XP_006726272;XP_006726273 Hs.348308 1674284;1739925;1855394;2120616;2120618;2160110;2217938;5015959;5022578;5022639;5022651 A004W05;A005Z12;D10S2448;D11S2808;D11S2921;D1S1423;D1S2358;D1S2518;D1S3427;G20617;SCAMP3_2726 C1orf2;COTE1 OTTHUMP00000033996;OTTHUMP00000033997;OTTHUMP00000033999;OTTHUMP00000223242;hypothetical protein LOC10712 APPROVED protein-coding ENSG00000160767 HGNC:1233 08511 VALIDATED 2311472 FAM189A1 family with sequence similarity 189, member A1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH trichostatin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 15 15 15 q13.1 7049724 7311092 - 29412455 29862927 - 29120252 29570723 - 6480464;8554872 12477932;16344560;19913121;20379614;20628086;22247754;23251661;24250222;9628581 23359 H0YKM1;O60320 AB011146;ABBA01010384;ABBA01010385;ABBA01010386;ABBA01010387;ABBA01010388;ABBA01010389;ABBA01010390;AC024474;AC061965;AC090763;AC102941;AC107980;AC243652;AC243686;AC243901;AC243902;AI364989;AK295622;AMYH02030124;AMYH02030125;AMYH02030126;AMYH02030127;BC127817;DA188047;DA327746;KF510407;NM_015307;XM_005254261 BAA25500;BAG58501;NP_056122;O60320;XP_005254318 Hs.383564 1338998;1661096;1672929;1678457;1690682;1697722;1721667;1749015;1755851;1764065;1789128;1794868;1846635;2115120;2133360;2179042;2181409 D15S1019;D15S549;D15S815;D15S898;D1S2526;G59844;G65700;PMC64493P3;RH102383;RH45968;RH78472;RH91713;SHGC-110656;SHGC-142689;SHGC-147723;SHGC-31050;STS-W04542 FLJ61121;KIAA0574;TMEM228 hypothetical protein LOC23359;transmembrane protein 228 protein-coding ENSG00000104059 HGNC:29075 VALIDATED 2312700 FAM192BP family with sequence similarity 192, member B, pseudogene INTERACTS WITH cobalt dichloride 4 4 4 q31.3 151173657 151175211 + 153848582 153850136 + 152927430 152928984 + 6480464 16201836;21906983 152667 Q2VIL1 ABBA01070128;AC099339;AMYH02010315;DQ120679;NG_007351 ABB92457 1689630;1754767 RH75360;SHGC-33215 FAM192B;rcNIP30 APPROVED pseudo HGNC:37194 INFERRED 1346193 FAM195A family with sequence similarity 195, member A INTERACTS WITH (+)-catechin; copper(2+) sulfate; cyclosporin A 16 16 16 p13.3 892017 898642 + 691849 698474 + 641849 648474 + 6480464 12477932;14702039;15489334;15616553;16169070;22190034;24778252 84331 I3L172;Q9BUT9 ABBA01030359;AF386504;AK054811;AL022341;AMYH02031200;AMYH02031201;BC001912;BC007346;BC010562;BC111391;CH471112;NM_138418 AAH01912;AAI11392;AAK67346;EAW85779;EAW85780;EAW85781;EAW85782;NP_612427;Q9BUT9 Hs.706105 1697220;5022450 D10S275;RH102102 C16orf14;MGC104301;MGC15416;c349E10.1 OTTHUMP00000045702;hypothetical protein LOC84331 APPROVED protein-coding ENSG00000172366 HGNC:14142 17503 PREDICTED 1605044 FAM192A family with sequence similarity 192, member A FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; chlorpyrifos 16 16 16 q13 41686193 41719798 - 57186378 57220387 - 57152466 57186153 - 6480464 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16344560;16381901;19322201;19471022;21139048;21693764;21890473;21906983;22412018;22645275;23602568;24816145;25036637 80011 H3BMX9;H3BN22;H3BNK9;H3BP64;H3BPF9;H3BPH9;H3BQQ6;H3BSF0;H3BSY6;H3BTI2;H3BTP8;H3BU93;H3BUL4;Q6P4H7;Q9GZU8 ABBA01025262;ABBA01025263;AC009090;AF212249;AF271785;AF356585;AK023291;AK025452;AL834421;AMYH02032101;AX880351;BC020536;BC063409;BC071952;BI545617;CA308353;CH471092;DB101263;NM_024946;XM_005256156;XM_005256157;XM_005256158;XM_005256159;XM_005256160;XM_005256161;XM_005256162;XM_005256163;XM_005256164;XM_005256165;XM_006721275;XM_006721276 AAG44796;AAH20536;AAH63409;AAH71952;AAK14932;AAK43697;ABM82615;ABM85909;BAB14512;BAB15136;CAD39082;CAE90913;CAL37989;CAL38239;EAW82904;EAW82905;EAW82906;EAW82907;EAW82908;NP_079222;Q9GZU8;XP_005256213;XP_005256214;XP_005256215;XP_005256216;XP_005256217;XP_005256218;XP_005256219;XP_005256220;XP_005256221;XP_005256222;XP_006721338;XP_006721339 Hs.396740 1684997;1689630;1689688;1736602;1754767;1783322;1858012;2130513;2219996;5491425 D16S2598E;MARC_11597-11598:1002738517:1;NIP30__6054;RH65278;RH70729;RH75360;SHGC-111288;SHGC-33215;SHGC-34581;SHGC-60612 C16orf94;CDA018;CDA10;FLJ21799;MGC74898;NIP30 NEFA-interacting nuclear protein NIP30 protein-coding ENSG00000172775 HGNC:29856 11389 VALIDATED 2290515 FAM196A family with sequence similarity 196, member A INTERACTS WITH pirinixic acid 10 10 10 q26.2 122603898 122664608 - 128933690 128994436 - 127135426 127196172 - 6480464 12477932 642938 Q6ZSG2 ABBA01009079;AK127465;AL390920;AMYH02024012;AMYH02024013;BC131825;BC137112;BC144478;NG_033919;NM_001039762;XM_005252694 AAI31826;AAI37113;AAI44479;BAC86991;NP_001034851;Q6ZSG2;XP_005252751 Hs.613882 1662190 G17523 C10orf141;FLJ45557 OTTHUMP00000224904;hypothetical protein LOC642938 APPROVED protein-coding ENSG00000188916 HGNC:33859 VALIDATED 1604570 FAM188B family with sequence similarity 188, member B ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH all-trans-retinoic acid; cytarabine; 3,4-methylenedioxymethamphetamine (ortholog) 7 7 7 p14.3 30800258 30921208 + 30811033 30932408 + 30771417 30892387 + 6480464;8554872 12477932;14702039;16344560;19913121;20628086;22396660 84182 Q4G0A6 ABBA01056814;AC004691;AC006022;AF538962;AK026027;AK090826;AK128558;AMYH02015460;BC043210;BC098569;CH471073;DA868176;KF511014;NM_032222 AAH98569;AAQ10898;BAB15327;EAW93970;NP_115598;Q4G0A6 Hs.660192 1338315;1338703;1669320;1758899;2120312;2124629;7186431;7186542;7186733 D7S1863;D7S2491;D7S632;GDB:1317454;GDB:443790;SHGC-150611 C7orf67;FLJ22374;FLJ51453;MGC44277 OTTHUMP00000202456;hypothetical protein LOC84182 protein-coding ENSG00000106125 HGNC:21916 13387 VALIDATED 1316770 FAM189A2 family with sequence similarity 189, member A2 FOUND IN integral component of membrane (inferred); INTERACTS WITH calcitriol; coumestrol; cyclosporin A 9 9 9 q21.11 42529998 42597862 + 71939287 72007372 + 69324375 69392456 + 737633;6480464 12477932 14702039;15164053;16189514;16344560;20301607;22925353;7951235 9413 Q15884;Q8WU02 ABBA01033807;ABBA01033808;AK056152;AK126127;AL355140;AMYH02020933;AMYH02020934;BC021685;BC113683;BC113685;BX641153;CH471089;DA824091;L27479;NM_001127608;NM_004816;XM_005252307;XM_005252308;XM_005252309;XM_005252310 AAA61301;AAH21685;AAI13684;AAI13686;ADR82993;BAB71105;BAC86453;CAE46067;EAW62482;EAW62483;EAW62484;EAW62485;NP_001121080;NP_004807;Q15884;XP_005252364;XP_005252365;XP_005252366;XP_005252367 Hs.118003 1645147;1659358;1709880;1757391;1849111;2129392 A006Z23;D9S2004;D9S742E;RH69524;SHGC-144782;SHGC-84771 C9orf61;MGC142243;MGC142245;RP11-548B3.1;X123 Friedreich ataxia region gene X123;OTTHUMP00000021434;chromosome 9 open reading frame 61 protein-coding ENSG00000135063 HGNC:24820 16255 607710 VALIDATED 1347953 FAM197Y2 family with sequence similarity 197, Y-linked, member 2, pseudogene Y Y p11.2 9357275 9362877 - 9519666 9525268 - 12815422 252946 AC006156;AF527835;AK129785;NR_001553 Hs.559065;Hs.638604 5125505 DYF61S2 CYorf16;FAM197Y2P APPROVED pseudo ENSG00000234803 HGNC:18848 PROVISIONAL 1320077 FAM193A family with sequence similarity 193, member A ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; benzo[a]pyrene diol epoxide I; formaldehyde 4 4 4 p16.3 2538459 2645603 + 2627159 2734302 + 2596003 2732575 + 6480464;8554872 10737800;11169226;12477932;16341674;18029348;20379614;24255178;8946164;9734812 8603 D6R990;D6RFZ4;E7EUR8;P78312 AA905011;AB000459;AB000460;AB000461;AB001563;ABBA01029491;ABBA01029492;ABBA01029493;ABBA01029494;ABBA01029495;AF040966;AK303732;AK307430;AK308449;AL110117;AMYH02008614;AMYH02008615;AMYH02008616;AMYH02008617;AMYH02008618;BC136646;BC144337;BC144339;BC144340;BF924432;BM468825;BM788933;CH471131;CR450722;CR545473;D44687;NM_001256666;NM_001256667;NM_001256668;NM_003704;NR_046335;NR_046336;XM_006713930;XM_006713931;XM_006713932 AAB97012;AAI36647;AAI44341;BAA19116;BAA19117;BAA19118;BAA31858;BAH14034;EAW82518;EAW82519;EAW82520;EAW82521;NP_001243595;NP_001243596;NP_001243597;NP_003695;P78312;XP_006713993;XP_006713994;XP_006713995 Hs.652364 1340771;1670351;1679127;1729998;1743221;2156483;2172474;7183988 D4S1614;D4S181;GDB:304604;SHGC-50241;SHGC-67346;SHGC-67729;SHGC-9126 C4orf8;RES4-22 OTTHUMP00000218361;OTTHUMP00000218362;OTTHUMP00000218363;OTTHUMP00000218364;OTTHUMP00000218365;OTTHUMP00000218366;OTTHUMP00000218367;hypothetical protein LOC8603 APPROVED protein-coding ENSG00000125386 HGNC:16822 09850 VALIDATED 2798785 FAM197Y3 family with sequence similarity 197, Y-linked, member 3 Y p11.2 9340620 9342813 - 100132506 XM_001716449 XP_001716501 Hs.559065 protein-coding HGNC:37465 1603840 FAM195B family with sequence similarity 195, member B INTERACTS WITH thapsigargin; tunicamycin 17 17 17 q25.3 76383760 76394631 - 79780293 79791167 - 81822361 81833294 - 6480464 10737800;12477932;21139048;21890473;23000965;24250222;24778252 348262 C9JLW8;I3L2L5;I3L317;I3L3A7;I3L3C1;I3L4Q0 ABBA01019647;AC145207;AC174470;AK000852;AK125584;AMYH02034138;AMYH02034139;BC017108;BC019318;BC041068;BC063557;BC094876;BC111795;BE831904;BG830426;BU188846;BX649156;CH471099;NM_001093767;NM_001288798;NM_001288799;NM_207368 BAC86211;C9JLW8;EAW89685;EAW89687;EAW89688;EAW89689;NP_001087236;NP_001275727;NP_001275728;NP_997251 Hs.514632 1743795 GDB:373736 DKFZp686A17165;MGC133184 hypothetical protein LOC348262 APPROVED protein-coding ENSG00000225663 HGNC:28007 14179 VALIDATED 1601757 FAM193B family with sequence similarity 193, member B FOUND IN cytoplasm; nucleus; INTERACTS WITH (+)-catechin; cyclosporin A; quercetin 5 5 5 q35.3 171520903 171555672 + 176946790 176981548 - 177519789 177554547 - 6480464 10737800;11572484;12477932;14702039;15146197;16189514;16344560;16713569;19322201;20368287;21177767;21900206;22505724;25015289 54540 D6RAX9;D6RC29;D6RDZ2;D6REE6;D6REQ2;H0Y9D3;H0Y9G1;H0Y9J9;H0Y9W8;H0YCX2;Q6IPW0;Q96PV7 AB067518;ABBA01033452;AC139795;AC145098;AI039634;AI683595;AK001266;AK096032;AL833096;AMYH02012840;BC008784;BC071696;BC086859;BF768924;BX431446;BX440663;BX647587;CH471195;CN372828;CS185605;DA077186;NM_001190946;NR_024019;XM_006714875;XM_006714876;XM_006714877;XM_006714878;XM_006714879;XM_006714880;XM_006714881;XM_006714882;XM_006714883;XM_006714884;XM_006714885;XM_006714886;XR_427804;XR_427805;XR_427806 AAH08784;AAH71696;BAA91589;BAB67824;BAG53200;CAI46078;CAJ42786;EAW84969;EAW84970;EAW84971;EAW84972;EAW84973;EAW84974;EAW84975;EAW84976;NP_001177875;Q96PV7;XP_006714938;XP_006714939;XP_006714940;XP_006714941;XP_006714942;XP_006714943;XP_006714944;XP_006714945;XP_006714946;XP_006714947;XP_006714948;XP_006714949 Hs.484289 1850682;2191599 MARC_26808-26809:1034278260:1;RH78125 DKFZp313I142;FLJ10404;KIAA1931 OTTHUMP00000223797;hypothetical protein LOC54540;irizio APPROVED protein-coding ENSG00000146067 HGNC:25524 07671 615813 VALIDATED 2793755 FAM197Y10 family with sequence similarity 197, Y-linked, member 10 Y q11.223 23625546 23627679 - 100288465 XM_002343869 XP_002343910 protein-coding HGNC:37627 2801165 FAM197Y1 family with sequence similarity 197, Y-linked, member 1 Y Y p11.2 3487400 3493820 - 9378306 9384726 - 6480464 100289265 XM_002344201;XM_003846785 XP_002344242;XP_003846833 protein-coding HGNC:37464 2795360 FAM197Y7 family with sequence similarity 197, Y-linked, member 7, pseudogene Y p11.2 9207466 9213071 - 100287826 XR_246945 APPROVED ncrna HGNC:37469 2801509 FAM197Y4 family with sequence similarity 197, Y-linked, member 4, pseudogene Y Y p11.2 9314594 9322482 - 9476985 9484873 - 100289188 AC006156;XR_244576 APPROVED ncrna HGNC:37466 MODEL 2797679 FAM197Y9 family with sequence similarity 197, Y-linked, member 9 Y p11.2 6130045 6132240 - 100132932 XM_001716169 XP_001716221 protein-coding HGNC:37477 2795936 FAM197Y8 family with sequence similarity 197, Y-linked, member 8 Y p11.2 9190859 9193055 - 100287798 XM_002344440 XP_002344481 protein-coding HGNC:37470 2795366 FAM197Y6 family with sequence similarity 197, Y-linked, member 6 Y p11.2 9231475 9233681 - 100287859 XM_002344442 XP_002344483 protein-coding HGNC:37468 1348985 FAM199X family with sequence similarity 199, X-linked INTERACTS WITH 17beta-estradiol; formaldehyde; valproic acid X X X q22.2 103885924 103910751 + 103411156 103440583 + 104166475 104195902 + 6480464 12477932;14702039;15489334;15772651;18029348;19322201;21890473;23455922 139231 B0QYU2;Q6PEV8 ABBA01019067;ABBA01019068;ABBA01019069;AI571005;AK024844;AK091221;AL049631;AL135959;AMYH02040176;AMYH02040177;BC016683;BC017665;BC035886;BC057847;CH471120;NM_207318;XM_005262079 AAH16683;AAH17665;AAH57847;BAG52310;EAX02757;EAX02758;EAX02759;EAX02760;NP_997201;Q6PEV8;XP_005262136 Hs.496535 1655574;1696922 L77856;RH101929 CXorf39 OTTHUMP00000023766;hypothetical protein LOC139231 APPROVED protein-coding ENSG00000123575 HGNC:25195 10045 VALIDATED 2801503 FAM197Y5 family with sequence similarity 197, Y-linked, member 5, pseudogene Y Y p11.2 9296352 9301954 - 9458743 9464345 - 12815422;9847074 100289150 AC006156;LK937811;NR_046300 Hs.638604 AC006156.3;AC006158.5;AC006158.7 APPROVED ncrna ENSG00000225516 HGNC:37467 VALIDATED 2881558 FAM199YP family with sequence similarity 199, Y-linked, pseudogene Y Y Y p11.2 2397390 2397580 - 6818467 6818657 + 6950426 6950616 + 12815422;9847074 360029 AC012068;NG_002952 1655574 L77856 FAM199Y pseudo HGNC:23951 INFERRED 1354085 FAM19A3 family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 1 1 1 p13.2 111493881 111500551 + 113261619 113269857 + 112718997 112727235 + 6480464 12107411;12477932;15028294;16710414 284467 Q7Z5A8 ABBA01068416;AL603832;AMYH02001746;AMYH02001747;AY325116;AY325119;BC112268;BC117479;BC143949;BC144042;BC144043;BQ638101;CH471122;NM_001004440;NM_182759;XM_005270766;XM_006710582 AAI12269;AAI17480;AAI44044;AAP92408;AAP92411;ADR83487;EAW56548;EAW56549;NP_001004440;NP_877436;Q7Z5A8;XP_005270823;XP_006710645 Hs.439116 MGC138473;RP11-426L16.6;TAFA-3;TAFA3 OTTHUMP00000013811;OTTHUMP00000013812;chemokine-like protein TAFA-3 APPROVED protein-coding ENSG00000184599 HGNC:21590 16877 REVIEWED 1605394 FAM198B family with sequence similarity 198, member B FOUND IN Golgi apparatus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 3,4-dichloroaniline; aflatoxin B1 4 4 4 q32.1 156388183 156436659 - 159045732 159094202 - 158124580 158173050 - 6480464 11076863;11230166;11256614;12477932;12975309;14702039;15489336;16344560;16381901 51313 K7EK71;K7EN70;K7ESC5;Q6UWH4;Q9NYZ0 ABBA01070202;AC098679;AF223468;AF260333;AK095474;AK172805;AK304112;AK315768;AL832589;AL834177;AMYH02010366;AMYH02010367;AMYH02010368;AY358785;BC017701;BC043193;BC045710;BC100016;BX489659;CH471056;CR457196;DA887770;NM_001031700;NM_001128424;NM_016613 AAF64143;AAG44664;AAH17701;AAH43193;AAI00017;AAQ89145;BAD18776;BAG38120;BAG65014;CAD38874;CAG33477;CAL37418;CAL37582;EAX04863;EAX04864;NP_001026870;NP_001121896;NP_057697;Q6UWH4 Hs.567498 1647939;1714927;2137124;2137126;2156732 D4S2598E;G33826;RH120458;SHGC-24109;SHGC-67805 AD021;AD036;C4orf18;DKFZp434L142;FLJ23966;FLJ38155 OTTHUMP00000220346;OTTHUMP00000220347;OTTHUMP00000220349;OTTHUMP00000220350;expressed in nerve and epithelium during development;hypothetical protein LOC51313;protein ENED APPROVED protein-coding ENSG00000164125 HGNC:25312 13194 VALIDATED 3497372 FAM196B family with sequence similarity 196, member B ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; valproic acid 5 5 5 q35.1 165322310 165439373 - 169290719 169407744 - 169863715 169980740 - 8554872;6480464 14702039;15372022;20379614 100131897 A6NMK8 ABBA01044103;ABBA01044104;AC008449;AC008648;AK055998;AMYH02012711;AMYH02012712;AMYH02012713;KC877168;NM_001129891 A6NMK8;NP_001123363 Hs.721917 1707580;1780570;1785686;2180908;5020431 D5S1713;RH45919;SHGC-78709;SHGC-84601;bac51192T C5orf57 OTTHUMP00000223158;Uncharacterized protein LOC100131897;hypothetical protein LOC100131897 protein-coding ENSG00000204767 HGNC:37271 PROVISIONAL 1606802 FAM198A family with sequence similarity 198, member A FOUND IN extracellular region (inferred); INTERACTS WITH copper(2+) sulfate; valproic acid; fipronil (ortholog) 3 3 3 p22.1 42958596 43036717 + 43020759 43099207 + 42979267 43057715 + 6480464 14702039;16344560;17974005;20379614;23251661 729085 F5H4W4;Q9UFP1 ABBA01024760;AC092042;AK091001;AK311059;AK311069;AL117530;AMYH02006631;BQ006782;DA262563;NM_001129908 BAG52260;CAB55980;NP_001123380;Q9UFP1 Hs.729533 1755765;2112592 D3S4357;SHGC-142613 C3orf41;DKFZP434B172;FLJ27464;FLJ33682;MGC141710 OTTHUMP00000209914;OTTHUMP00000209915;OTTHUMP00000238526;hypothetical protein LOC729085;protein FAM198A APPROVED protein-coding ENSG00000144649 HGNC:24485 VALIDATED 1345564 FAM19A4 family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011] 3 3 3 p14.1 68709246 68909796 - 68780915 68981761 - 68731764 68932610 - 6480464;8554872 12477932;14702039;15028294;15489334;16344560;19851296;20198315;20379614;21832049;25109685 151647 C9JUW7;Q96LR4 ABBA01030896;ABBA01030897;AC096922;AC104166;AC109587;AK057890;AMYH02007012;AY325117;BC031566;CH471055;DA017279;KC876898;KF457643;NM_001005527;NM_182522 AAH31566;AAP92409;ADZ16078;BAB71606;EAW65463;EAW65464;NP_001005527;NP_872328;Q96LR4 Hs.187873;Hs.736925 1750545;1784608;2112660;2113738;2120468;2122891;2161224 AB063062;D3S2987;D3S3540;D3S4391;L18063;SHGC-111854;SHGC-112013 FLJ25161;TAFA-4;TAFA4 OTTHUMP00000213368;chemokine-like protein TAFA-4 APPROVED protein-coding ENSG00000163377 HGNC:21591 08343 REVIEWED 1347131 FAM19A1 family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008] 3 3 3 p14.1 67995186 68536291 + 68040734 68594772 + 67991592 68545621 + 6480464;8554872 11076863;11230166;11256614;12477932;15028294;15489334;15489336;16344560;16381901;20664687 407738 Q7Z5A9 ABBA01030887;ABBA01030888;ABBA01030889;ABBA01030890;ABBA01030891;ABBA01030892;ABBA01030893;ABBA01030894;AC092416;AC104167;AC104443;AC107626;AC126123;AC138390;AC139766;AK289668;AK290446;AL713702;AMYH02007001;AMYH02007002;AMYH02007003;AMYH02007004;AMYH02007005;AMYH02007006;AMYH02007007;AMYH02007008;AY325114;BC025746;BX460561;CH471055;DA484048;DA485098;KF510248;NM_001252216;NM_213609 AAH25746;AAP92406;BAF82357;BAF83135;CAD28501;CAL38734;EAW65460;NP_001239145;NP_998774;Q7Z5A9 Hs.655061;Hs.731727 1660011;1684772;1713913;1725035;1725455;1784596;1855402;2111196;2115539;2139469;2139645;2142009;2178524 092YH7;D3S1748E;D3S2845E;D3S2985;D3S3079;D3S3355;RH118814;RH119123;RH119386;RH65216;SHGC-111502;STS-W37517;WI-15458 TAFA-1;TAFA1 OTTHUMP00000213370;OTTHUMP00000213371;chemokine-like protein TAFA-1 APPROVED protein-coding ENSG00000183662 HGNC:21587 13294 REVIEWED 4106454 FAM201C family with sequence similarity 201, member C Y q11.1 13251502 13263811 + 100132230 ABBA01005182;AC140113 2125824;2137335 D21S1424;G34776 pseudo HGNC:37996 MODEL 4106791 FAM201B family with sequence similarity 201, member B 2 q21.2 133106790 133110894 + 12477932;20379614 339742 Q86VD6 AC097532;BC045732;XM_003120760;XM_929883 AAH45732;Q86VD6;XP_003120808;XP_934976 Hs.98178 2126127 D2S2051 protein-coding HGNC:27933 MODEL 1346449 FAM201A family with sequence similarity 201, member A INTERACTS WITH trichostatin A 9 9 9 p13.1 38557398 38559594 + 38621085 38623281 + 38621088 38623284 + 737633;6480464 12477932 15164053 158228 Q5SY85 ABBA01050374;AL591543;AMYH02019511;BC036230;BC041970;BC067887;NR_027294 Q5SY85 Hs.632652 C9orf122 APPROVED ncrna HGNC:27239 PREDICTED 1604968 FAM200A family with sequence similarity 200, member A This gene encodes a protein of unknown function. The protein is weakly similar to transposase-like proteins in human and mouse. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 93878152 93883986 - 99143923 99156115 - 99546300 99558492 - 6480464 10607616;12477932;12690205;14702039;15489334;16314882;21832049 221786 J3QT35;Q8TCP9 ABBA01013255;ABBA01013256;AC005020;AK024526;AK094113;AK290724;AK315452;AL713672;AMYH02016363;AMYH02016364;BC009536;BC040214;BC126337;BC130371;CH236956;CH471091;CV569355;NM_145111;XM_005250199 AAH40214;AAI26338;AAI30372;ADR83215;ADR83377;BAC04288;BAF83413;BAG37839;CAD28478;EAL23872;EAW76652;EAW76653;NP_659802;Q8TCP9;XP_005250256 Hs.596587 1682894;5021872;5037552 D8S2279;RH92422;sY3084 C7orf38;DKFZp727G131;FLJ36794 OTTHUMP00000210467;OTTHUMP00000210468;hypothetical protein LOC221786 APPROVED protein-coding ENSG00000221909 HGNC:25401 13221 VALIDATED 1345895 FAM19A2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008] 12 12 12 q14.1 61771461 62255544 - 62102029 62586620 - 61708248 62192839 - 6480464;8554872 12477932;15028294;15489334;16344560;19240061;20379614;21348951;23251661;24388013 338811 F8VVD7;F8VVF9;F8VWB2;F8VZY8;Q8N3H0 ABBA01026638;ABBA01026639;ABBA01026640;ABBA01026641;ABBA01026642;ABBA01026643;AC020647;AC078789;AC078872;AC130414;AC137053;AK123580;AL834160;AMYH02026629;AMYH02026630;AMYH02026631;AMYH02026632;AW161831;AY325115;BC028403;BC040286;BC050347;BX110188;CH471054;CR749367;DA242708;DA721025;DB535669;NM_178539;XM_006719370 AAH28403;AAH40286;AAP92407;BAG53916;CAD38865;CAH18220;EAW97100;EAW97101;EAW97102;NP_848634;Q8N3H0;XP_006719433 Hs.269745;Hs.604626 1337053;1337648;1714457;1715467;1746119;1746741;1746951;1749129;1750693;1752629;1790241;1850082;2126638 D12S1726;D12S2003;D12S298;G64378;G64812;G64813;RH119739;RH120898;S0006;SHGC-106492;SHGC-110808;SHGC-112175;WI-3818 DKFZp761E1217;DKFZp781P0552;MGC42403;TAFA-2;TAFA2 OTTHUMP00000243233;chemokine-like protein TAFA-2 APPROVED protein-coding ENSG00000198673 HGNC:21589 16876 REVIEWED 4105864 FAM202C family with sequence similarity 202, member C Y q11.223 25593786 25594173 + 9847074 100287695 AC009947;NG_029047 pseudo HGNC:38532 INFERRED 4106183 FAM202B family with sequence similarity 202, member B Y Y q11.23 9294265 9294652 - 28368734 28369121 - 9847074 100286899 AC006991;NG_029046 pseudo HGNC:38000 INFERRED 5133148 FAM204BP family with sequence similarity 204, member B, pseudogene 1 1 1 170838799 170839495 - 197715885 197716581 - 197746755 197747451 - 100420875 ABBA01027587;AL365258;AMYH02002439;NG_027030 1662001;2156307 G22405;SHGC-76092 pseudo HGNC:42011 INFERRED 2291788 FAM203B family with sequence similarity 203, member B 8 q24.3 145437887 145440962 + 6480464 16421571 728071 E9PIX0 AC110280;XM_001126758 P0CB43;XP_001126758 2127710;2151414 RH11627;SGC31287 BRP16L;C8orf30B OTTHUMP00000228459;brain protein 16-like;chromosome 8 open reading frame 30B APPROVED protein-coding ENSG00000230567 HGNC:32323 4106455 FAM202A family with sequence similarity 202, member A 1 1 q32.1 175645372 175650806 + 202518232 202523666 + 100128726 Q6ZP08 AC099336;AK130276;NR_038451;XM_003118500;XM_003119763;XM_003120845 BAC85317;Q6ZP08;XP_003118548;XP_003119811;XP_003120893 Hs.727991 miscrna HGNC:38095 VALIDATED 3130454 FAM200B family with sequence similarity 200, member B ENCODES a protein that exhibits nucleic acid binding (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 4 4 4 p15.32 16147982 16156700 + 15683352 15692070 + 15681729 15690447 + 6480464 12477932;14702039;15815621;16344560;18187620 285550 D6RAC6;P0CF97 ABBA01032572;AC114744;AK124651;AMYH02008801;BC017971;BC035074;BC048993;BQ004196;DA408954;NM_001145191 NP_001138663;P0CF97 Hs.399980;Hs.619367;Hs.731718 1651872;1664790;1685638;1686256;1703226;2121998;2170179;2185478;5016781 RH94215;RH98624;SGC31945;SHGC-50493;SHGC-53928;SHGC-59190;SHGC-67307;STS-H96902;WI-11209 OTTHUMP00000217966;OTTHUMP00000217967;putative protein FAM200B protein-coding ENSG00000237765 HGNC:27740 VALIDATED 1313564 FAM204A family with sequence similarity 204, member A ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH afimoxifene; benzo[a]pyrene; cyclosporin A 10 10 10 q26.11 113799164 113832438 - 120065401 120101839 - 118305889 118342327 - 737633;6480464;8554872 12477932 14702039;15489334;16341674;16344560;16385451;17207965;20379614;23455924;24816145 63877 F2Z2Y3;Q5T374;Q9H8W3 ABBA01062932;AK023250;AK026630;AL365498;AMYH02023893;AX880308;BC023577;BM837313;BX538256;CH471066;CR457304;DA168924;NM_001134672;NM_022063;XM_005270024;XM_006717939;XR_428712 AAH23577;ADQ32244;BAB14487;BAB15514;CAE90894;CAG33585;EAW49416;EAW49417;EAW49418;NP_001128144;NP_071346;Q9H8W3;XP_005270081;XP_006718002 Hs.105575;Hs.372309 1655559;1662001;1683693;1701428;1754529;2156307;2189521 G22405;RH104346;RH143414;RH93408;SHGC-132812;SHGC-52428;SHGC-76092 C10orf84;FLJ13188;RP11-319I23.1;bA319I23.1 OTTHUMP00000020580;OTTHUMP00000020581;OTTHUMP00000020582;hypothetical protein LOC63877 APPROVED protein-coding HGNC:25794 12593 VALIDATED 5133145 FAM204DP family with sequence similarity 204, member D, pseudogene 14 14 14 57678016 57678593 - 77639418 77639995 - 77173075 77173652 - 100420963 ABBA01030663;AC007375;AMYH02029566;NG_027293 pseudo HGNC:42013 INFERRED 1342880 FAM19A5 family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Sep 2013] 22 22 22 q13.32 32799018 33062366 + 48885288 49147744 + 48489460 48751935 + 6480464;8554872 10591208;12477932;12975309;15028294;15489334;20379614;22158540;24322204;8619474;8889548;9110174 25817 B1B1J6;Q7Z5A7 ABBA01031359;ABBA01031360;ABBA01031361;ABBA01031362;AF131851;AK123443;AK125256;AL096843;AL096853;AL954745;AMYH02038562;AMYH02038563;AMYH02038564;AMYH02038565;AMYH02038566;AMYH02038567;AY325118;AY358847;BC039396;BU739734;BX927063;CH471138;CR391954;CR450365;CR456636;DB481230;DB541899;NM_001082967;NM_015381;Z83837;Z84468 AAD20061;AAH39396;AAP92410;AAQ89206;BAG53905;BAG54175;EAW73462;EAW73463;NP_001076436;NP_056196;Q7Z5A7 Hs.436854 1336946;1699022;1726619;1728565;1781092;2131543 AL022479;D22S1161;G62544;G63572;RH103084;stD22S34 QLLK5208;TAFA-5;TAFA5;UNQ5208 OTTHUMP00000197027;OTTHUMP00000197028;OTTHUMP00000197029;TAFA protein 5;chemokine-like protein TAFA-5 APPROVED protein-coding ENSG00000219438 HGNC:21592 13295 VALIDATED 2302157 FAM205BP family with sequence similarity 205, member B, pseudogene 9 9 9 p13.2 34761726 34770045 - 34830264 34838583 - 34830267 34838586 - 389715 Q63HN1 ABBA01065004;AK128180;AL080137;AL162231;AL589645;AMYH02019454;BX648118;NR_024481 BAC87313;CAH56187 Hs.713965;Hs.725618 1762611 SHGC-146416 C9orf144;DKFZp434J193 APPROVED pseudo HGNC:24504 VALIDATED 5489091 FAM207BP family with sequence similarity 207, member B, pseudogene 13 13 13 q11 341889 342395 + 19271145 19271651 + 18697005 18697511 + 729535 ABBA01068526;AC245149;AL359737;NG_021965 pseudo HGNC:39715 INFERRED 5133146 FAM204CP family with sequence similarity 204, member C, pseudogene 13 13 13 57160547 57161190 - 76262690 76263333 - 75688554 75689197 - 100420916 ABBA01021649;AL137782;AMYH02028282;NG_024869 2189521 RH143414 pseudo HGNC:42012 INFERRED 5489119 FAM207CP family with sequence similarity 207, member C 21 21 21 q11.2 449782 450285 - 15164956 15165459 + 13792635 13793138 + 727987 ABBA01057063;AC245051;AL109748;NG_021995 pseudo HGNC:42676 INFERRED 5489266 FAM206BP family with sequence similarity 206, member B, pseudogene 13 13 13 q14.13 27899203 27899748 + 46844212 46844757 + 46270077 46270622 + 390403 ABBA01050985;AL139801;AMYH02027985;NG_011392 FLJ21562 pseudo HGNC:39851 INFERRED 5487895 FAM205CP family with sequence similarity 205, member C, pseudogene FOUND IN integral component of membrane (inferred) 9 9 9 p13.3 34820558 34827190 - 34889105 34895737 - 34889108 34895740 - 15164053 100129969 A6NFA0 ABBA01065003;AL355377;AMYH02019454;NG_027513 A6NFA0 pseudo HGNC:42673 INFERRED 1352417 FAM206A family with sequence similarity 206, member A FOUND IN nucleus (inferred); INTERACTS WITH cyclosporin A; ethyl methanesulfonate; formaldehyde 9 9 9 q31.3 82195874 82202439 + 111696673 111703238 + 108934393 108940958 + 6480464 12477932;15607035;17207965;21906983;24250222 54942 Q9NX38;X6R8U7;X6REY2 ABBA01042777;AF153417;AK000464;AK310297;AL354797;AMYH02021430;BC015795;BC051827;CH471105;NM_017832 AAG43367;AAH15795;ADQ32640;BAA91183;EAW59032;EAW59033;EAW59034;NP_060302;Q9NX38 Hs.29276 1683002 RH70720 C9orf6;CG-8;FLJ20457 OTTHUMP00000021876;OTTHUMP00000021877;hypothetical protein LOC54942 APPROVED protein-coding ENSG00000119328 HGNC:1364 07911 VALIDATED 1604038 FAM208A family with sequence similarity 208, member A ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; atrazine 3 3 3 p14.3 56619895 56682857 - 56654160 56717270 - 56620132 56683242 - 6480464 10470851;11149944;12421765;12477932;14702039;16169070;18726359;19322201;19460752;19471022;20379614;20881960;21139048;21890473;21906983;21963094;21988832;22082156;24457600 23272 Q9UK61 AB029028;ABBA01024442;ABBA01024443;ABBA01024444;AC099781;AF180425;AF273053;AK094486;AK307599;AMYH02006850;AMYH02006851;BC014569;BC029354;BC070096;BC129987;BI559851;BX648955;CH471055;NM_001112736;NM_015224;XM_005264999;XM_006713077;XM_006713078 AAD55098;AAG34913;AAI29988;BAA83057;EAW65319;EAW65320;EAW65321;EAW65322;EAW65323;EAW65324;NP_001106207;NP_056039;Q9UK61;XP_005265056;XP_006713140;XP_006713141 Hs.116877 1677290;1684548;1726891;2123143;2151630;5014051;5037552;5109527 D3S2752E;D3S2886E;D8S2278;D8S2279;G62688;RH98424;RH98805;SHGC-77020 C3orf63;DKFZp686C2456;KIAA1105;RAP140;se89-1 CTCL tumor antigen se89-1;OTTHUMP00000213553;OTTHUMP00000213554;OTTHUMP00000213558;retinoblastoma-associated protein 140;retinoblastoma-associated protein RAP140;uncharacterized protein C3orf63 APPROVED protein-coding ENSG00000163946 HGNC:30314 10183 VALIDATED 1322617 FAM207A family with sequence similarity 207, member A INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; menadione 21 21 21 q22.3 31466458 31503452 + 46359918 46396891 + 44940003 44976973 + 6480464 10830953;11707072;11790298;12477932;15489334;15635413;16964243;17207965;21693764;21906983;24816145 85395 C9JJU7;Q9NSI2 ABBA01074179;AF391113;AF391114;AL163301;AL844908;AMYH02037921;AP001505;BC009341;CH471079;KF457336;NM_058190;XM_005261189;XM_005261190;XM_005261191;XM_005261192;XM_005261193;XM_005261194 AAH09341;AAL34504;AAL34505;ADQ32641;CAB90492;EAX09367;EAX09368;EAX09369;EAX09370;EAX09371;EAX09372;NP_478070;Q9NSI2;XP_005261246;XP_005261247;XP_005261248;XP_005261249;XP_005261250;XP_005261251 Hs.410830 1790615 STS_CEB246 C21orf70;PRED56 OTTHUMP00000115333;OTTHUMP00000115334;hypothetical protein LOC85395 APPROVED protein-coding ENSG00000160256 HGNC:15811 10765 PROVISIONAL 1342812 FAM209B family with sequence similarity 209, member B FOUND IN nucleus; INTERACTS WITH cadmium atom; copper(2+) sulfate; lead(0) 20 20 20 q13.31 51848734 51852008 + 55105960 55111576 + 56527171 56536520 + 6480464 11780052;12477932;12509440;15489334;23251661 388799 Q5JX69 ABBA01052896;AL109806;AMYH02037339;AMYH02037340;BC014951;BC105792;CH471077;DB452055;DB517586;NM_001013646;XM_005260411;XM_006723793;XM_006723794;XM_006723795 AAI05793;EAW75534;EAW75535;NP_001013668;Q5JX69;XP_005260468;XP_006723856;XP_006723857;XP_006723858 Hs.287759 5020414;5024756;5037552 D8S2279;L17688;RH80030 C20orf107;MGC104273;dJ1153D9.4 OTTHUMP00000031352;hypothetical protein LOC388799;uncharacterized protein C20orf107 APPROVED protein-coding ENSG00000213714 HGNC:16101 18388 VALIDATED 5477831 FAM205A family with sequence similarity 205, member A FOUND IN nucleus 9 9 9 p12 34654517 34661002 - 34723050 34729535 - 34723053 34729538 - 20379614 259308 B4DY95;Q6ZU69 ABBA01065006;AK125949;AK302320;AL162231;AMYH02019453;BX104598;DC402407;DC403775;NM_001141917 BAC86357;BAG63657;NP_001135389;Q6ZU69 Hs.522093 1762611 SHGC-146416 C9orf144B;FLJ58301 OTTHUMP00000212552;transmembrane protein C9orf144B protein-coding ENSG00000205108 HGNC:41911 VALIDATED 1322474 FAM20B family with sequence similarity 20, member B ENCODES a protein that exhibits phosphotransferase activity, alcohol group as acceptor; INVOLVED IN phosphorylation (inferred); FOUND IN Golgi apparatus; INTERACTS WITH benzo[a]pyrene diol epoxide I; formaldehyde; methyl methanesulfonate 1 1 1 q25 152103945 152154570 + 178994939 179045702 + 179025939 179076567 + 737633;6480464 12477932 10760811;11483207;15489334;15676076;16428749;19322201;19473117;20237496;23246001;9455477;9455484 9917 O75063;X6RH03 AB007944;AB480690;ABBA01027824;ABBA01027825;AK289989;AL139132;AMYH02002227;AMYH02002228;BC046441;BC051794;CA844342;CH471067;NM_014864 AAH46441;AAH51794;BAA32320;BAF82678;BAH79819;EAW91034;EAW91035;EAW91036;NP_055679;O75063 Hs.5737 2145725;2148388;2170198;2175152;2187407;5015961;5022200 A006M42;A006O17;D15S1477;L18426;SHGC-30547;SHGC-75952;SHGC-75993 gxk1 OTTHUMP00000033047;glycosaminoglycan xylosylkinase;xylose kinase protein-coding ENSG00000116199 HGNC:23017 13297 611063 VALIDATED 7204940 FAM210CP family with sequence similarity 210, member C, pseudogene 10 10 10 p12.1 27402219 27402794 - 27638644 27639219 - 27349715 27350290 - 100131328 ABBA01034391;AL355493;AMYH02022511;NG_022141 pseudo HGNC:44938 INFERRED 1343867 FAM208B family with sequence similarity 208, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 10 10 10 p15.1 5657202 5736083 + 5726801 5807742 + 5684838 5765779 + 737633;6480464;8554872 12477932 14702039;16189514;17267499;20360068;21139048;21145461;21890473;21906983;22586326;23000965;23727862;24250222;24722188;8125298 54906 J3KPH3;Q5VWN6 AB095927;ABBA01034771;ABBA01034772;AK000367;AK022966;AK024762;AK027014;AK091392;AK095469;AK128051;AK128055;AK128151;AK128211;AK225352;AK309877;AL365356;AL596094;AL832762;AMYH02022046;BC001759;BC016688;BC020304;BC071976;BC110339;BX649177;CN370899;CR936780;DB094755;NG_021250;NM_017782;XM_005252474;XM_005252475;XM_005252476;XM_005252477;XM_005252478;XM_005252480;XM_005252481;XM_005252482;XM_005252483;XM_006717452 AAH01759;AAH71976;AAI10340;AAI66686;BAA91115;BAB14336;BAB14993;BAB15627;BAC23103;BAC87251;NP_060252;Q5VWN6;XP_005252531;XP_005252532;XP_005252533;XP_005252534;XP_005252535;XP_005252537;XP_005252538;XP_005252539;XP_005252540;XP_006717515 Hs.610717 1643774;1647105;1676091;1689390;1713131;1854978;2144833;5016596;5016851;5024039 D16S325;GDB:631802;RH120352;RH80031;RH92215;RH98745;SHGC-36813;STS-N23452;STS-N27868;STS-R55623 C10orf18;DKFZp781E1986;FLJ20360;bA318E3.2 OTTHUMP00000019009;hypothetical protein LOC54906;uncharacterized protein C10orf18 APPROVED protein-coding ENSG00000108021 HGNC:23484 VALIDATED 1317211 FAM209A family with sequence similarity 209, member A FOUND IN extracellular vesicular exosome; nucleus; INTERACTS WITH quercetin; silicon dioxide; cadmium dichloride (ortholog) 20 20 20 q13.31 51840217 51841640 + 55099785 55101208 + 56524729 56526152 + 6480464 11780052;12477932;15489334;19056867;8889548 200232 Q5JX71 ABBA01052895;AL109806;AL833715;AMYH02037339;BC029411;BC070179;BC107704;BU738481;BX335293;NM_001012971 AAH29411;AAI07705;NP_001012989;Q5JX71 Hs.504907 C20orf106;MGC104272;dJ1153D9.3 OTTHUMP00000031351;hypothetical protein LOC200232;uncharacterized protein C20orf106 APPROVED protein-coding HGNC:16100 18536 VALIDATED 1352066 FAM210A family with sequence similarity 210, member A FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 18 18 18 p11.21 13545661 13607519 - 13663346 13726591 - 13663347 13726592 - 737633;6480464 12477932 14702039;16344560;19615732;20877624;22504420 125228 K7EK00;K7EPG9;K7ERQ2;Q96ND0 AA602175;ABBA01074042;AK055618;AK309506;AK309819;AMYH02034352;AMYH02034353;AP001010;AP001525;BU189118;CB987819;CH471113;DA560663;DA573992;DA895646;DA984075;NM_001098801;NM_152352;XM_006722298 BAB70973;EAX01508;EAX01509;NP_001092271;NP_689565;Q96ND0;XP_006722361 Hs.13034 1673122;1686610;1773138;1775226;2122225;2130357;2133137;5022383;5022578 D18S1228;D1S1423;ECD04345;FB14A10;RH65191;RH80402;SHGC-31363;SHGC-53804;STS-T67088 C18orf19;HsT2329;MGC24180 OTTHUMP00000162510;hypothetical protein LOC125228;uncharacterized protein C18orf19 APPROVED protein-coding ENSG00000177150 HGNC:28346 10717 VALIDATED 1322807 FAM210B family with sequence similarity 210, member B FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; arsenite(3-); benzo[a]pyrene 20 20 20 q13.2 51673330 51683066 + 54933983 54943719 + 56358927 56368663 + 6480464 11780052;12477932;15489334;16303743;19064572;20379614;21139048;24250222;8228263 116151 H0Y456;Q96KR6 ABBA01052891;AJ311123;AK075565;AK314768;AL121914;AL133555;AMYH02037339;BC017725;CH471077;CS051463;DB500825;L17329;NM_080821 AAH17725;BAC11704;BAG37306;CAC67490;CAI72223;EAW75563;EAW75564;EAW75565;NP_543011;Q96KR6 Hs.143736 1671340;1671342;2166159;5022200;5022576 A005R26;D1S1361;G20442;L18426;RH47082 5A3;C20orf108;DKFZp434A1114;dJ1167H4.1 OTTHUMP00000031336;transmembrane protein C20orf108 APPROVED protein-coding ENSG00000124098 HGNC:16102 12737 VALIDATED 1314939 FAM20A family with sequence similarity 20, member A This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011] 17 17 17 q24.2 63103046 63168874 - 66531257 66597095 - 68535116 68600954 - 6480464;8699517;7240710;8554872 12477932;12975309;14702039;15676076;16344560;19199708;21549343;21990045;23185530;23434854;23468644;23697977;24196488 54757 B7Z4Y3;K7EIV7;K7EQL5;L8B8N7;Q8IYA5;Q96MK3 AB545606;ABBA01028956;ABBA01028957;AC079210;AF447872;AK056789;AK298071;AL133105;AMYH02033875;AMYH02033876;AY358197;BC036222;BC136686;BC136689;CB530015;CH471099;DB057818;N64017;NG_029809;NM_001243746;NM_017565;NR_027751;XM_006721958;XM_006721959;XM_006721960;XR_429905 AAH36222;AAI36687;AAI36690;AAQ04647;AAQ88564;BAB71285;BAH12719;BAM78535;CAB61412;EAW89066;NP_001230675;NP_060035;Q96MK3;XP_006722021;XP_006722022;XP_006722023 Hs.268874 1298335;1669031;1669033;1769320;1778027;2110395;2183975 A005M04;D17S2193;FAM20A__7627;G20323;RH46194;SHGC-56444;STS-W90672 AI1G;DKFZp434F2322;FP2747 AIGFS APPROVED protein-coding HGNC:23015 13296 204690;611062 REVIEWED 1323719 FAM20C family with sequence similarity 20, member C This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014] 7 7 7 p22.3 211215 273622 + 192969 300740 + 192969 260774 + 6480464;7240710;8554872;8699517 12477932;12690205;14702039;15489334;15676076;17369251;17924334;19056867;19250384;20643727;20825432;21900206;22582013;22900076;23325605;24039075;24706917 56975 Q8IXL6 AA135568;AB545605;ABBA01015547;ABBA01039274;ABBA01039275;ABBA01039276;AC093627;AC145676;AC187652;AEKP01153555;AEKP01153556;AF533706;AK026140;AK054704;AK125281;AL390137;AL390147;AMYH02015023;AMYH02015024;BC009531;BC040074;BC068086;BC087853;BQ026938;CH236966;CH471144;NG_033970;NM_020223;XM_005249814;XR_242097 AAH40074;AAH87853;AAQ09019;BAM78534;CAB99089;EAL23705;EAW87149;EAW87150;EAW87151;EAW87152;EAW87153;EAW87154;EAW87155;EAW87156;EAW87157;NP_064608;Q8IXL6;XP_005249871 Hs.134742;Hs.733582 1762849;1765059;1790525;1790527;2165304 HSC178_(GAP_665_G);HSC179_(GAP_397_G);RH12122;SHGC-146618;SHGC-148600 DKFZp547C074;DMP-4;DMP4;GEF-CK;RNS OTTHUMP00000199937;OTTHUMP00000217831;dentin matrix protein 4;extracellular serine/threonine protein kinase Fam20C;golgi-enriched fraction casein kinase APPROVED protein-coding ENSG00000177706 HGNC:22140 13298 259775;611061 REVIEWED 1603392 FAM212B family with sequence similarity 212, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 5-fluorouracil; aflatoxin B1 1 1 1 p13.2 110511297 110545039 - 112264686 112298419 - 111722064 111755797 - 6480464;8554872 12477932;14702039;16344560;17207965;19047128;19851984;21832049;22087225 55924 E9PND8;E9PR53;Q9NTI7 ABBA01068399;AK055667;AK092074;AK094997;AK293989;AK295012;AL049557;AL137198;AL137199;AMYH02001728;AMYH02001729;AMYH02001730;BC031558;CH471122;DA306915;NM_019099;NM_198926 AAH31558;ADQ31659;BAG51550;BAG57355;BAG58072;CAB69908;CAB69909;EAW56504;EAW56505;NP_061972;NP_945120;Q9NTI7 Hs.193406 1334957;1670191;1699150;1722769;1856029;2121166;2123244;2131087;2167088;2169297;2175475;2175477;2186487;5092758 A005M10;A005Z45;D1S2837;G20328;G32311;G60323;L29973;RH103153;RH78081;SHGC-75290;SHGC-75320;SHGC-75322;SHGC-75331;WI-18529 C1orf183;FLJ31105 OTTHUMP00000013737;OTTHUMP00000231663;OTTHUMP00000231664;hypothetical protein LOC55924;uncharacterized protein C1orf183 APPROVED protein-coding ENSG00000197852 HGNC:28045 14246 VALIDATED 1603910 FAM213B family with sequence similarity 213, member B ENCODES a protein that exhibits oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (ortholog); prostaglandin-F synthase activity (ortholog); INVOLVED IN prostaglandin biosynthetic process (ortholog); PARTICIPATES IN prostaglandin biosynthetic pathway; FOUND IN extracellular vesicular exosome; cytoplasm (ortholog); endoplasmic reticulum (ortholog); INTERACTS WITH aflatoxin B1; arsenous acid; atrazine 1 1 1 p36.32 63098 67751 - 2517899 2522908 + 2586460 2591469 + 6480464;8552775 18006499 12477932;14702039;14710190;16344560;18029348;19056867;21139048;21297633;21890473;21900206;21906983;23000965;8889548 127281 J3KPF5;J3KPF6;J3KRV9;J3QKK8;Q8TBF2 ABBA01016102;AF425266;AK057027;AK075273;AK094901;AK291908;AK298926;AK303504;AK308034;AK316243;AL139246;AL359575;AMYH02000126;BC022547;BI908668;BM976058;BQ709693;CH471183;CR749706;DA292832;DA495138;DC351872;DC407959;NM_001195736;NM_001195737;NM_001195738;NM_001195740;NM_001195741;NM_152371;NR_036637;NR_036638;XM_006710354;XM_006724944 AAH22547;AAP97295;BAC11511;BAF84597;BAG51845;BAG61031;BAG64537;BAH14614;EAW56083;EAW56084;EAW56085;EAW56086;EAW56087;EAW56088;NP_001182665;NP_001182666;NP_001182667;NP_001182669;NP_001182670;NP_689584;Q8TBF2;XP_006710417;XP_006725007 Hs.462033 2157232;2157234;5014053 A006A26;D1S3693;G20652 C1orf93;DKFZp547M123;MGC26818;RP3-395M20.10 OTTHUMP00000000968;OTTHUMP00000000969;OTTHUMP00000000970;hypothetical protein LOC127281;prostamide/PG F synthase;prostamide/PGF synthase;prostamide/prostaglandin F synthase APPROVED protein-coding ENSG00000157870 HGNC:28390 14513 VALIDATED 7493512 FAM212B-AS1 FAM212B antisense RNA 1 1 1 1 110529087 110537019 + 112282463 112290420 + 111739841 111747798 + 14702039 100506343 ABBA01068399;AK092511;AL049557;AMYH02001728;AMYH02001729;AMYH02001730;BC041428;BG329450;HG492431;HG492432;NR_038951;NR_038952 Hs.485810;Hs.715034 RP4-773A18.4 ncrna ENSG00000227811 HGNC:49446 VALIDATED 1605573 FAM216B family with sequence similarity 216, member B INTERACTS WITH titanium dioxide (ortholog) 13 13 13 q14.11 24413479 24423481 + 43355686 43365685 + 42781550 42791549 + 6480464 12477932;14702039;15489334;16344560;8889548 144809 Q8N7L0 ABBA01021248;AK098238;AK310859;AL137138;AL138819;AMYH02027936;BC093659;BC112237;CB240730;CH471075;DA592345;DB221838;NM_182508;XM_005266260 AAH93659;AAI12238;ADR82823;BAC05268;EAX08682;NP_872314;Q8N7L0;XP_005266317 Hs.16970 1338581;1649386;1771988 D13S1270;RH44530;STS-T93573 C13orf30;FLJ40919;MGC138442 OTTHUMP00000178587;hypothetical protein LOC144809;uncharacterized protein C13orf30 APPROVED protein-coding ENSG00000179813 HGNC:26883 08289 VALIDATED 1602805 FAM212A family with sequence similarity 212, member A INVOLVED IN neural tube development (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; arsenous acid; diarsenic trioxide 3 3 3 p21.31 49806165 49807990 + 49840687 49842463 + 49803236 49805033 + 6480464 12477932;15489334;17207965;20175189;21832049 389119 Q96EL1 ABBA01024574;AC139451;AMYH02006759;BC012170;CH471055;NM_203370;XM_006713137 AAH12170;ADQ32632;EAW65022;NP_976248;Q96EL1;XP_006713200 Hs.86674 1699234;1854966;2153220 RH103198;RH17798;SGC33684 C3orf54;INKA1;MGC20416 OTTHUMP00000212703;hypothetical protein LOC389119;uncharacterized protein C3orf54 APPROVED protein-coding ENSG00000185614 HGNC:32480 14210 VALIDATED 1606264 FAM214A family with sequence similarity 214, member A INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 15 15 15 q21.2-q21.3 29768567 29865870 - 52873518 52971569 - 52581321 52679372 - 6480464 10718198;12477932;14702039;16344560;20936779;22505724;22990118 56204 H0Y3Q9;H3BNT9;H3BQ29;H3BSJ2;H3BTD0;H3BU00;H3BUJ2;H3BVB3;Q32MH5 AB037791;ABBA01039059;AC009754;AC025917;AK001842;AK292917;AK293730;AK293920;AK308049;AK308855;AL832519;AMYH02030453;BC040548;BC058839;BC073908;BC083498;BC109127;BC109128;CH471082;DA101547;DB227522;DN990361;KF454903;NM_001286495;NM_019600;NR_104457;XM_005254547;XM_005254548;XM_006720609;XM_006720610;XM_006720611;XM_006720612;XR_429465;XR_429466 AAH40548;AAH58839;AAH73908;AAH83498;AAI09128;AAI09129;BAA91936;BAA92608;BAF85606;BAG57156;BAG57301;CAH56350;EAW77457;EAW77458;EAW77459;EAW77460;NP_001273424;NP_062546;Q32MH5;XP_005254604;XP_005254605;XP_006720672;XP_006720673;XP_006720674;XP_006720675 Hs.152385 1661048;1662230;1738963;2115190;2128570;2132530 D15S860;RH77759;SGC31343;SHGC-64266;STS-T68831;WI-16877 FLJ10980;KIAA1370;MGC126494;MGC126495 hypothetical protein LOC56204;uncharacterized protein KIAA1370 APPROVED protein-coding ENSG00000047346 HGNC:25609 10965 VALIDATED 1322605 FAM214B family with sequence similarity 214, member B FOUND IN nucleus; INTERACTS WITH calcitriol; testosterone; valproic acid 9 9 9 p13.3 35036093 35047864 - 35104118 35116338 - 35104121 35116341 - 737633;6480464 12477932 10819331;11076863;11230166;11256614;14702039;15489336;16189514;16381901;21832049 80256 Q7L5A3 AB040972;ABBA01064997;AC004472;AK021622;AK022837;AK307682;AL353795;AL583909;AMYH02019455;AX882323;BC004406;CH471071;NM_025182;XM_005251588;XM_005251589;XM_005251590;XM_005251591;XM_005251592;XM_005251593;XM_005251594;XM_005251595;XM_005251596;XM_005251597;XM_005251598;XM_006716877;XM_006716878 AAC07982;AAH04406;BAA96063;BAB13857;BAG51123;CAC29493;CAE91532;CAL37915;EAW58386;EAW58387;EAW58388;EAW58389;EAW58390;EAW58391;EAW58392;EAW58393;NP_079458;Q7L5A3;XP_005251645;XP_005251646;XP_005251647;XP_005251648;XP_005251649;XP_005251650;XP_005251651;XP_005251652;XP_005251653;XP_005251654;XP_005251655;XP_006716940;XP_006716941 Hs.301696 1775727;2132461;2132463 A005W26;G20553;RH78365 FLJ11560;KIAA1539;P1.11659_5;RP11-182N22.6;bA182N22.6 OTTHUMP00000021314;OTTHUMP00000021315;OTTHUMP00000021316;OTTHUMP00000021317;OTTHUMP00000021318;hypothetical protein LOC80256;uncharacterized protein KIAA1539 APPROVED protein-coding ENSG00000005238 HGNC:25666 13869 PREDICTED 1607038 FAM216A family with sequence similarity 216, member A INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 12 12 12 q24.11 110532993 110554951 + 110906232 110928192 + 110468427 110490387 + 6480464 12477932;16344560;21963094;8619474;9110174 29902 B4DMY2;F8VXY8;Q8WUB2 ABBA01005109;ABBA01005110;AC002350;AK225731;AK296280;AK297684;AK308802;AK309603;AMYH02027185;AMYH02027186;AU129789;BC020967;BF114636;CH471054;CR457001;NM_013300;U79274;XM_005253875 AAB50215;AAH20967;ABM82726;ABM85910;BAG58989;BAG60044;CAG33282;EAW97915;EAW97916;EAW97917;NP_037432;Q8WUB2;XP_005253932 Hs.436618 1774188;2171065;5021369 L17796;RH45045;RH70708 C12orf24;HSU79274 OTTHUMP00000241430;OTTHUMP00000241431;hypothetical protein LOC29902;protein predicted by clone 23733;uncharacterized protein C12orf24 APPROVED protein-coding ENSG00000204856 HGNC:30180 17119 VALIDATED 1320148 FAM213A family with sequence similarity 213, member A ENCODES a protein that exhibits antioxidant activity; INVOLVED IN oxidation-reduction process; regulation of osteoclast differentiation; FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 10 10 10 q23.1 76158574 76183083 + 82167585 82192753 + 80407829 80432997 + 737633;6480464 12477932 11483580;12975309;14702039;14710190;15146197;15489334;16303743;16344560;18029348;19951071;20877624;21139048;21832049;21890473;8125298 84293 Q9BRX8 AA829725;ABBA01003801;AC021028;AF086462;AF305824;AI589570;AK022598;AK027858;AK074643;AK075447;AK126292;AK225387;AK315440;AL359195;AMYH02023420;AMYH02023421;AY359059;BC005871;BC024308;BC045777;BC071938;BE742158;CN396006;CQ782618;CS072362;DA136257;DB494833;DB532554;NM_001243778;NM_001243779;NM_001243780;NM_001243781;NM_001243782;NM_032333;XM_005270221 AAH05871;AAK55527;AAQ89418;BAC11108;BAC11627;BAG37828;CAF85885;CAI93500;NP_001230707;NP_001230708;NP_001230709;NP_001230710;NP_001230711;NP_115709;Q9BRX8;XP_005270278 Hs.500333;Hs.718589 1691098;1730141;2175347;5015619;5015881;5015961;5016478;5024756;5037552;5111032 A005D17;D10S240E;D11S3114;D15S1477;D8S2279;GDB:335751;GDB:434012;RH80030;RH92421;STS-AA041282 C10orf58;FLJ12536;FLJ14952;FLJ44312;MGC4248;PAMM OTTHUMP00000019973;OTTHUMP00000019974;OTTHUMP00000019975;OTTHUMP00000019976;OTTHUMP00000019977;OTTHUMP00000019978;UPF0765 protein C10orf58;hypothetical protein LOC84293;peroxiredoxin (PRX)-like 2 activated in M-CSF stimulated monocytes;peroxiredoxin-like 2 activated in M-CSF stimulated monocytes;redox-regulatory protein FAM213A;redox-regulatory protein PAMM APPROVED protein-coding ENSG00000122378 HGNC:28651 12580 VALIDATED 2303434 FAM215A family with sequence similarity 215, member A (non-protein coding) INTERACTS WITH paracetamol 17 17 17 q21.31 38702615 38703394 + 41994576 41995355 + 43917208 43917987 + 6480464 10948432;12477932;15489334;16344560 23591 Q9Y5M1 ABBA01028395;AC007993;AF143236;AMYH02033466;BC069097;CH471178;DA188505;NR_026770 AAD31315;EAW51652;Q9Y5M1 Hs.721804 APR-2;C17orf88;LINC00530 APPROVED ncrna ENSG00000267496 HGNC:17505 08497 VALIDATED 1602430 FAM218A family with sequence similarity 218, member A INTERACTS WITH benzo[a]pyrene; formaldehyde 4 4 4 q32.3 163210129 163212302 + 165878100 165880273 + 164956948 164959121 + 6480464 12477932;14702039;17207965;23251661 152756 Q96MZ4 ABBA01070287;AC106872;AK056221;AMYH02010434;BC022381;CH471056;NM_153027 AAH22381;ADQ32243;BAB71123;EAX04830;NP_694572;Q96MZ4 Hs.178648 C4orf39;FLJ31659 OTTHUMP00000219948;hypothetical protein LOC152756;uncharacterized protein C4orf39 APPROVED protein-coding ENSG00000250486 HGNC:26466 08714 PREDICTED 1350147 FAM219A family with sequence similarity 219, member A The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010] 9 9 9 p13.3 34329683 34390068 - 34398182 34458568 - 34398184 34458570 - 6480464 12477932;14702039;15164053;15489334;16169070;16344560;17081983;20379614;21900206;24250222;8619474;9110174 203259 Q5T586;Q5T593;Q8IW50 ABBA01065011;ABBA01065012;AF131828;AK022819;AK026087;AK091262;AK096350;AK123887;AK294054;AK299882;AL160270;AL356494;AL833397;AMYH02019446;AMYH02019447;AMYH02019448;BC015785;BC025348;BC041009;CH471071;DA110626;NG_027971;NM_001184940;NM_001184941;NM_001184942;NM_001184943;NM_001184945;NM_147202;XM_005251402;XM_006716740 AAH25348;AAH41009;BAG53270;BAG57402;BAG61730;EAW58454;EAW58455;NP_001171869;NP_001171870;NP_001171871;NP_001171872;NP_001171874;NP_671735;Q8IW50;XP_005251459;XP_006716803 Hs.493771 1758143;2151144 RH12896;SHGC-147519 C9orf25;FLJ39031;bA573M23.5 OTTHUMP00000021273;OTTHUMP00000021274;OTTHUMP00000021275;OTTHUMP00000021276;OTTHUMP00000021277;OTTHUMP00000021278;OTTHUMP00000021279;OTTHUMP00000159910;hypothetical protein LOC203259;uncharacterized protein C9orf25 APPROVED protein-coding ENSG00000164970 HGNC:19920 12950 VALIDATED 7886985 FAM217AP1 family with sequence similarity 217, member A pseudogene 1 9 9 9 p24.3 417264 418487 + 500270 501493 + 500270 501493 + 100133062 ABBA01065456;AL161725;AMYH02019024;NG_016331;NG_021639 pseudo HGNC:49613 INFERRED 1323673 FAM217B family with sequence similarity 217, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; crotonaldehyde; formaldehyde 20 20 20 q13.33 55249497 55264380 + 58508819 58523735 + 59933764 59948680 + 6480464;8554872 11780052;12477932;15489334;17207965;19322201;8889548 63939 A2A2M7;B4E2D0;Q9NTX9 ABBA01005956;AK074295;AK125073;AK304220;AL109928;AL137442;AMYH02037386;BC020771;BC054002;CB242399;CH471077;DB476861;NM_001190826;NM_001190827;NM_022106;XM_005260509 AAH20771;AAH54002;ADQ32556;BAG54133;BAG65092;CAB70739;EAW75424;NP_001177755;NP_001177756;NP_071389;Q9NTX9;XP_005260566 Hs.54973;Hs.596058 1697616;1796560;2126052;2133786;2156864;2156866;2187588;5022623 D11S2687;PPP1R3D_1243;RH102320;RH66085;SHGC-36268;STS-H96648;STS-N91895;WI-11651 C20orf177;dJ551D2.5 OTTHUMP00000031431;OTTHUMP00000174472;OTTHUMP00000174473;hypothetical protein LOC63939;uncharacterized protein C20orf177 APPROVED protein-coding ENSG00000196227 HGNC:16170 12758 VALIDATED 1345120 FAM217A family with sequence similarity 217, member A 6 6 6 p25.2 5297170 5307960 - 4068593 4079457 - 4068359 4079223 - 12477932;14574404;14702039;15489334;17207965 222826 C9J5H0;C9J6U0;Q8IXS0 ABBA01021998;AK097426;AL033383;AMYH02013010;BC039349;CH471087;HC006844;NM_173563;XM_005248951;XM_006715025;XM_006715026;XM_006715027 AAH39349;ADQ32977;BAG53470;CBH19227;EAW55152;EAW55153;EAW55154;NP_775834;Q8IXS0;XP_005249008;XP_006715088;XP_006715089;XP_006715090 Hs.657342 1697404 RH102202 C6orf146;MGC43581 OTTHUMP00000015980;OTTHUMP00000213689;hypothetical protein LOC222826;uncharacterized protein C6orf146 APPROVED protein-coding ENSG00000145975 HGNC:21362 10789 VALIDATED 1346618 FAM21D family with sequence similarity 21, member D INVOLVED IN retrograde transport, endosome to Golgi (ortholog); FOUND IN early endosome (ortholog); WASH complex (ortholog) 10 10 q11.23 51187942 51192032 + 45788875 45792964 + 6480464 653450 Q5SRD0 ABBA01016378;AC012044;AC254107;AL672187;NG_012764 Q5SRD0 bA592B15.4 pseudo HGNC:23418 INFERRED 7207019 FAM21FP family with sequence similarity 21, member F, pseudogene 10 10 10 q11.22 42195219 42219413 - 46195632 46222611 - 45700184 45727163 - 100288690 ABBA01050042;ABBA01050043;ABBA01050044;AL445201;AL645998;AMYH02022736 1659765;1687069 RH99214;SHGC-57273 pseudo HGNC:45011 MODEL 1352446 FAM21B family with sequence similarity 21, member B INVOLVED IN retrograde transport, endosome to Golgi (ortholog); FOUND IN early endosome (ortholog); WASH complex (ortholog) 10 q11.22 47894023 47949417 + 6480464 14702039;15146197;15847701;16344560;20360068;20827171;21906983;22939629;23667531;8889548;8889549 55747 F5GY39;Q5SNT6 AA147749;ABBA01004385;ABBA01004386;ABBA01052472;ABBA01052473;ABBA01052474;AK125147;AK311628;AL954360;AMYH02023046;BE744488;BQ060891;BU690083;CN314884;CR994976;CX762870;DA313442;DA402580;DA466642;DC403380;NM_018232 CAI17187;CAI17188;NP_060702;Q5SNT6 Hs.365286;Hs.449662 5113677;5114099;5125870 Cda0qf11;D10S1470;SGC30331 FAM21A;bA98I6.1 OTTHUMP00000019527;WASH complex subunit FAM21B;family with sequence similarity 21, member A protein-coding ENSG00000152726 HGNC:23417 VALIDATED 7207018 FAM21EP family with sequence similarity 21, member E, pseudogene 10 10 10 q11.23 45701518 45704019 + 51816538 51819040 - 50056778 50059280 - 14702039 100421577 ABBA01003656;AK056375;AL442003;AMYH02023046;NR_038275;XR_246115 Hs.712902 pseudo HGNC:45010 VALIDATED 1349964 FAM21C family with sequence similarity 21, member C INVOLVED IN retrograde transport, endosome to Golgi; FOUND IN early endosome; endosome; WASH complex; INTERACTS WITH elemental selenium; selenium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 10 10 10 q11.1 40 2250 + 46222648 46288412 + 45727200 45792964 + 6480464 12477932;14702039;15144186;15146197;15164054;15302935;15489334;15847701;16344560;16713569;16964243;17081983;18550675;19922874;19922875;20139978;20360068;20498093;20827171;20923837;21906983;22070227;22513087;22939629;24816145;9628581 253725 A8K5W5;B3KMC4;J3KP36;Q9Y4E1 AB011164;ABBA01016378;ABBA01016379;AC012044;AC254107;AI356516;AK001545;AK291430;AK293929;AK298385;AK303048;AL046783;AL050279;AL645998;AL731535;AMYH02022736;BC006456;BC039561;BC053887;BC150611;BM126842;BQ229875;CN314880;DB219301;DC377099;NM_001169106;NM_001169107;NM_015262 AAH06456;AAI50612;BAA25518;BAF84119;BAG50936;BAG57309;BAG60621;BAG64168;CAB43380;NP_001162577;NP_001162578;NP_056077;Q9Y4E1 Hs.365286;Hs.449662 1659765;1687069;5113677;5114099;5125870 Cda0qf11;D10S1470;RH99214;SGC30331;SHGC-57273 FAM21A;KIAA0592;VPEF OTTHUMP00000019509;WASH complex subunit FAM21C;vaccinia virus penetration factor protein-coding ENSG00000172661 HGNC:23414 11094 613631 VALIDATED 1603151 FAM21A family with sequence similarity 21, member A INVOLVED IN retrograde transport, endosome to Golgi (ortholog); FOUND IN early endosome (ortholog); WASH complex (ortholog); INTERACTS WITH 17beta-estradiol; potassium dichromate; progesterone 10 10 10 q11.23 48 2007 + 51827610 51893269 + 50067850 50133509 + 6480464 12477932;14702039;15146197;15847701;16344560;20360068;20827171;21139048;21906983;22354992;22863883;22939629;23667531;24816145;8889548;8889549 387680 B1AP61;E7ESD2;F8W7U3;Q5T1D7;Q641Q2;Q6P0Q7;Q9NVB8 AA147749;ABBA01003655;AK001686;AK055424;AK125147;AK295129;AK304116;AK311628;AL080183;AL442003;AL450382;AL954360;BC064639;BC065500;BC075815;BC082258;BC144479;BE744488;BQ060891;BU690083;CN314884;CR994976;CX762870;DA313442;DA402580;DA466642;DC336167;DC403380;NM_001005751;NM_001291398;NM_018232;XM_005269805;XM_005269806;XM_005269807;XM_005269808;XM_005269810;XM_006717831;XM_006717832 AAH65500;AAH75815;AAH82258;AAI44480;BAA91836;BAG58154;BAG65017;CAB45765;CAI17187;CAI17188;NP_001005751;NP_001278327;NP_060702;Q641Q2;XP_005269862;XP_005269863;XP_005269864;XP_005269865;XP_005269867;XP_006717894;XP_006717895 Hs.365286;Hs.449662;Hs.645272 FAM21B;bA56A21.1;bA98I6.1 OTTHUMP00000019607;OTTHUMP00000179015;WASH complex subunit FAM21A;WASH complex subunit FAM21B;family with sequence similarity 21, member B protein-coding ENSG00000099290 HGNC:23416 17364 VALIDATED 1321800 FAM219B family with sequence similarity 219, member B INTERACTS WITH copper atom; copper(0); valproic acid 15 15 15 q24.1 52142296 52149430 - 75192328 75199462 - 74899987 74907191 - 737633;6480464 12477932 11214971;14702039;15489334;19322201;24250222 57184 H3BM86;H3BMU7;H3BMY2;H3BNG0;H3BPC2;H3BRU1;H3BSK2;Q5XKK7 ABBA01060507;AC125435;AK000005;AK001572;AK025373;AK291020;AK296403;AK308954;AMYH02030800;AMYH02030801;BC006348;BC015637;BC064575;BQ632184;CH471136;DC306755;KC877567;NM_020447;XM_005254564;XM_005254565;XM_005254566;XR_243117;XR_243118;XR_243119;XR_243120;XR_243121;XR_429468 AAH15637;BAA92230;BAF83709;BAG59069;EAW99289;EAW99290;EAW99291;EAW99292;EAW99293;EAW99294;NP_065180;Q5XKK7;XP_005254621;XP_005254622;XP_005254623 Hs.367690 1650552;1698614;1736510;1766479;2120414;2133682;2135252;2182097;5015861;5022425;7185938 D10S16;D15S1329;D15S718E;D22S296;RH102862;RH77786;SHGC-149804;STS-N35913;STS-R00303;WI-20333 C15orf17;FLJ00005 hypothetical protein LOC57184;uncharacterized protein C15orf17 APPROVED protein-coding ENSG00000178761 HGNC:24695 12667 VALIDATED 1604475 FAM221A family with sequence similarity 221, member A INTERACTS WITH arsenite(3-); atrazine; fonofos 7 7 7 p15.3 23708513 23731017 + 23719231 23742269 + 23679612 23702803 + 6480464 12477932;17207965;8889548 340277 A4D161;B8ZZQ8;F8WCP2;F8WCP3 ABBA01056714;ABBA01056715;ABBA01056716;AC006026;AI370799;AK127774;AL832127;AMYH02015369;BC026000;BC042034;BC063130;BI549491;BU685256;BU958830;BX106087;CA867596;CH236948;CH471073;DB538373;HY056255;NM_001127364;NM_001127365;NM_001300932;NM_199136;XM_005249738;XM_006715723;XM_006715724;XR_242080;XR_242081;XR_428081 A4D161;AAH26000;AAH42034;AAH63130;ADQ32129;EAL24251;EAW93797;EAW93798;EAW93799;EAW93800;EAW93801;EAW93802;EAW93803;EAW93804;NP_001120836;NP_001120837;NP_001287861;NP_954587;XP_005249795;XP_006715786;XP_006715787 Hs.592178;Hs.598870 1693546;1699492;5014051;5015619;5015861;5015961;5016478;5016781;5020635;5020988;5022200;5022322;5022578;5022651;5024039;5037552;7185938 D10S16;D11S2560;D11S2921;D11S3114;D15S1477;D16S325;D1S1423;D22S958;D7S3207;D8S2278;D8S2279;GDB:434012;L18426;RH103339;SHGC-58460;SHGC-67307 C7orf46;DKFZp686F0810;FLJ45875;MGC72075 OTTHUMP00000158579;OTTHUMP00000202218;OTTHUMP00000202219;OTTHUMP00000202220;hypothetical protein LOC340277;uncharacterized protein C7orf46 APPROVED protein-coding ENSG00000188732 HGNC:27977 14706 VALIDATED 6482902 FAM222A-AS1 FAM222A antisense RNA 1 12 12 12 q24.11 109795422 109835579 - 110172014 110211292 - 109734209 109773487 - 12477932;16341674;16344560 84983 ABBA01005074;ABBA01005075;ABBA01005076;AC007834;AMYH02027172;AMYH02027173;BC007821;BQ684893;DA082338;HG505162;HG505163;NR_026661;NR_026662 Hs.675961 1711422 G42196 MGC14436 APPROVED ncrna ENSG00000255650 HGNC:28223 VALIDATED 1605921 FAM222A family with sequence similarity 222, member A INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; atrazine 12 12 12 q24.11 109776479 109832599 + 110152187 110208312 + 109714382 109770507 + 6480464 12477932;14702039;15489334;23602568 84915 Q5U5X8 ABBA01005074;ABBA01005075;ABBA01005076;AC007834;AK027627;AK074806;AMYH02027172;AMYH02027173;BC007844;BC020193;BC037221;CH471054;DN994281;NM_032829;XM_005253970;XM_006719654 AAH37221;BAB55244;BAC11219;EAW97874;EAW97875;NP_116218;Q5U5X8;XP_005254027;XP_006719717 Hs.661785 1711422 G42196 C12orf34;FLJ14721 OTTHUMP00000240598;hypothetical protein LOC84915;uncharacterized protein C12orf34 APPROVED protein-coding ENSG00000139438 HGNC:25915 07868 VALIDATED 6480581 FAM220CP family with sequence similarity 220, member C, pseudogene 9 9 9 70398223 70399000 + 99883648 99885297 + 97121366 97123015 + 100507415 ABBA01042939;AL445670;AMYH02021304 pseudo HGNC:43640 MODEL 1347573 FAM223A family with sequence similarity 223, member A (non-protein coding) INTERACTS WITH copper atom; copper(0) X X q28 153959418 153960130 + 153799479 153800191 + 6480464 18029348 100132967 Q8IWN6 ABBA01029065;AC244090;AF277315;NR_027401 Q8IWN6 1842790;1843642;1845232;2102682;2102754;2120452 ECD22602;ECD23031;ECD23833;RH44897;stSG604151;stSG604197 CXorf52;LINC00204A;NCRNA00204;NCRNA00204A;SPCX APPROVED ncrna HGNC:30612 VALIDATED 1321320 FAM221B family with sequence similarity 221, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cadmium dichloride (ortholog) 9 9 9 p13.3 35750546 35762276 - 35817014 35833372 - 35817017 35833375 - 6480464;8554872 11207361;12477932 392307 A6H8Z2;C9JPK8;F8W8N9 ABBA01064983;ABBA01064984;AF334830;AL133410;AMYH02019466;BC144503;BC146808;BX648702;CH471071;NM_001012446;NR_052026;XM_005251456;XM_006716766;XM_006716767;XM_006716768 A6H8Z2;AAI46809;EAW58329;EAW58330;NP_001012448;XP_005251513;XP_006716829;XP_006716830;XP_006716831 Hs.128075 2161260 D9S1165 C9orf128 OTTHUMP00000215615;hypothetical protein LOC392307;uncharacterized protein C9orf128 APPROVED protein-coding ENSG00000204930 HGNC:30762 16675 VALIDATED 1603991 FAM222B family with sequence similarity 222, member B ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH copper(2+) sulfate; coumestrol; formaldehyde 17 17 17 q11.2 23942277 24028763 - 27082996 27169857 - 28755978 28842839 - 6480464;8554872 12477932;14702039;15489334;16344560;16712791;23602568;24250222 55731 B3KQ88;B3KTH5;B4DRX9;J3KSK8;J3QKY8;J3QLP2;J3QR32;J3QRM5;J3QRR9;Q8WU58 ABBA01015039;ABBA01015040;ABBA01015041;ABBA01015042;ABBA01015043;ABBA01015044;ABBA01015045;AC010761;AC024267;AK000147;AK001562;AK025980;AK057665;AK095569;AK299477;AMYH02033228;AMYH02033229;AMYH02033230;AMYH02033231;BC021228;BX647766;CB156081;CH471159;DA185693;DA787679;DA789853;DA887444;DB453514;DC374179;DC376581;DC381712;DC399026;DC400943;FJ695200;HY006495;HY012898;HY040104;NM_001077498;NM_001288631;NM_001288632;NM_001288633;NM_001288634;NM_001288635;NM_001288636;NM_001288637;NM_001288638;NM_001288639;NM_001288640;NM_018182;XM_006721971 AAH21228;ACE86462;ACE87143;BAA90974;BAA91757;BAB15306;BAG51950;BAG53087;BAG61441;EAW51143;EAW51144;EAW51145;NP_001070966;NP_001275560;NP_001275561;NP_001275562;NP_001275563;NP_001275564;NP_001275565;NP_001275566;NP_001275567;NP_001275568;NP_001275569;NP_060652;Q8WU58;XP_006722034 Hs.564533 1683433;1683777;1686688;1706296;1778684 D17S2153;RH39311;RH47382;RH93591;SHGC-80705 C17orf63;FLJ10700 hypothetical protein LOC55731;uncharacterized protein C17orf63 APPROVED protein-coding ENSG00000173065 HGNC:25563 07693 VALIDATED 2975318 FAM224B family with sequence similarity 224, member B (non-protein coding) This locus is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.221 5035674 5039970 - 19687041 19691332 - 17575161 17579452 - 401629 AC015978;AI819212;NG_004636;NR_002160 Hs.568127 LINC00230B;NCRNA00230B APPROVED ncrna HGNC:37737 VALIDATED 1344676 FAM225A family with sequence similarity 225, member A (non-protein coding) 9 9 9 q32 86529045 86530034 + 115875176 115882126 + 113112896 113119846 + 12477932;16751776 286333 ABBA01042691;AK125961;AK127516;AK292424;AL449105;AL832752;AMYH02021502;AW590029;BC130412;BC130414;BX647840;CR627046;DQ571292;DQ571830;DQ572584;DQ572604;DQ573210;DQ574281;DQ574282;DQ574883;DQ575341;DQ575875;DQ575876;DQ576708;DQ576973;DQ577436;DQ577497;DQ578024;DQ578070;DQ578826;DQ579058;DQ579756;DQ580394;DQ581398;DQ583663;DQ583747;DQ583957;DQ585700;DQ586383;DQ586412;DQ587744;DQ588855;DQ588856;DQ588981;DQ589036;DQ589109;DQ589341;DQ589592;DQ591097;DQ591261;DQ591583;DQ593108;DQ594567;DQ594783;DQ595134;DQ595918;DQ598654;DQ600043;DQ600134;DQ600939;HG502356;HG502357;NR_024366 BAF85113 Hs.449459;Hs.99052 1689027 RH98640 C9orf109;DKFZp686A0127;FLJ76363;LINC00256A;NCRNA00256A APPROVED ncrna ENSG00000231528 HGNC:27855 VALIDATED 1606484 FAM220A family with sequence similarity 220, member A FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; paracetamol 7 7 7 p22.1 6346541 6366073 + 6369040 6388590 - 6329409 6348959 - 6480464 12477932;12853948;14702039;15342556;24250222 84792 E9PQC6;E9PQY0;Q7Z4H9 ABBA01056473;ABBA01056474;ABBA01056475;AC009412;AF533707;AK093156;AK311878;AMYH02015172;BC006110;BC140712;BC142977;BP354450;CH236963;CH878731;NM_001037163 AAH06110;AAI40098;AAI40713;AAI42978;AAQ09020;AAS07509;BAC04076;BAG34819;EAW55045;NP_001032240;Q7Z4H9 Hs.696146 1646195;1683803;1850404;2147453;5095207 Clen35;D7S2122E;G19861;GDB:1317180;RH66857 C7orf70;MGC12966 OTTHUMP00000151177;OTTHUMP00000228482;SIPAR;STAT3-interacting protein as a repressor APPROVED protein-coding ENSG00000178397 HGNC:22422 14427 VALIDATED 1354319 FAM226A family with sequence similarity 226, member A (non-protein coding) X X X q13.2 72340624 72342645 + 72161568 72163589 - 72941728 72943750 - 737633 12477932 203429 AC234776;AL353999;AMYH02039758;BC025725;BC041962;NR_026595 ABM82563;ABM85753 Hs.592230;Hs.676982 1667361;1789006 G65636;WI-14887 CXorf50;LINC00246A;NCRNA00246;NCRNA00246A APPROVED ncrna HGNC:28544 06648 VALIDATED 2306331 FAM223B family with sequence similarity 223, member B (non-protein coding) INTERACTS WITH copper atom; copper(0); copper(2+) sulfate X X X q28 153959418 153960130 + 153860736 153861448 - 154632470 154633182 - 6480464 15772651;18029348 286967 A6NKX1 AC244107;AF277315;AY168775;NR_027402 A6NKX1;AAO11658 Hs.391764;Hs.562090 1842790;1843642;1845232;2102682;2102754;2120452 ECD22602;ECD23031;ECD23833;RH44897;stSG604151;stSG604197 CXorf52;CXorf52B;LINC00204B;NCRNA00204B APPROVED ncrna ENSG00000272681 HGNC:34048 06724 PREDICTED 2975307 FAM224A family with sequence similarity 224, member A (non-protein coding) This locus is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.222 5035697 5039991 - 20488419 20492713 + 18326533 18330827 + 401630 ABBA01007797;AC007241;AI670915;AK026667;BF476242;NG_004636;NR_002161 Hs.612916 FLJ23014;LINC00230A;NCRNA00230A APPROVED ncrna HGNC:37736 VALIDATED 1626521 FAM226B family with sequence similarity 226, member B (non-protein coding) INTERACTS WITH valproic acid X X X q13.2 72340624 72342645 + 71996897 71998919 + 72777073 72779095 + 6480464 11181995;12477932;15489334;15772651;16382448 653687 ABBA01046264;AC240504;AMYH02039716;AMYH02039717;BC025725;BC041962;BX295541;CH471213;DB480960;NR_026594 EAW71828 Hs.592230;Hs.676982 1667361;1789006 G65636;WI-14887 CXorf50B;LINC00246B;NCRNA00246B APPROVED ncrna HGNC:31964 VALIDATED 6767369 FAM227A family with sequence similarity 227, member A 22 22 22 q13.1 22779707 22859306 - 38974125 39052634 - 38578120 38656629 - 10591208;14702039;16344560;18029348;18669648;24250222 646851 F5H4B4 ABBA01055527;ABBA01055528;ABBA01055529;AK095080;AK301819;AL021707;AL022320;AL035495;AMYH02038358;AMYH02038359;AMYH02038360;AMYH02038361;DA378202;DB053353;DV080205;KF457450;NM_001013647;NM_001291030;XM_005261703;XM_006724291;XM_006724292;XM_006724293;XM_006724294;XM_006724295 BAH13562;F5H4B4;NP_001013669;NP_001277959;XP_005261760;XP_006724354;XP_006724355;XP_006724356;XP_006724357;XP_006724358 Hs.542707 5015619;5015861;5015961;5016478;5020229;5022588;5037552;5108775;7185938 D10S16;D11S3114;D15S1477;D3S1674;D5S1597E;D8S2279;GDB:434012;L17770 putative uncharacterized protein LOC388900 protein-coding ENSG00000184949 HGNC:44197 VALIDATED 1605268 FAM227B family with sequence similarity 227, member B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH paracetamol 15 15 15 q21.2 26514181 26806352 - 49618822 49913128 - 49327968 49620931 - 6480464;8554872 11329013;12477932;14702039;15489334;20379614;21565293;23408906 196951 H0YK12;H0YLL2;H0YLX5;H0YMU4;H0YMX9;H0YNN2;Q96M60 ABBA01039125;ABBA01039126;ABBA01039127;AC018927;AC022306;AC025919;AK023699;AK057362;AMYH02030394;AMYH02030395;BC048125;BC048139;BG182490;BI463646;CH471082;NM_152647;XM_005254213;XM_005254214;XM_005254215;XM_005254216;XM_005254218;XM_005254219;XM_005254220;XM_006720423;XM_006720424;XM_006720425;XM_006720426;XM_006720427;XM_006720428 AAH48125;BAB71451;EAW77369;EAW77370;EAW77371;EAW77372;EAW77373;EAW77374;NP_689860;Q96M60;XP_005254270;XP_005254271;XP_005254272;XP_005254273;XP_005254275;XP_005254276;XP_005254277;XP_006720486;XP_006720487;XP_006720488;XP_006720489;XP_006720490;XP_006720491 Hs.712959 1657113;1665775;1673250;1673706;1727847;1753517;1763179;1763679;2121949;2130861;5093182 A009J02;D15S1244;G31072;G32568;G63339;RH46325;RH66841;SHGC-107445;SHGC-146909;SHGC-147361;SHGC-30040 C15orf33;FLJ32800;MGC57432 hypothetical protein LOC196951;uncharacterized protein C15orf33 APPROVED protein-coding ENSG00000166262 HGNC:26543 08139 VALIDATED 2303337 FAM228A family with sequence similarity 228, member A ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH potassium dichromate (ortholog) 2 2 2 p23.3 24238260 24254860 + 24397471 24423718 + 24175103 24191698 + 6480464;8554872 12477932;15489334;15815621;23509962 653140 F2Z3J0;H7C3M9;H7C4B8;Q86W67 ABBA01045105;AC008073;AMYH02003410;BC050462;CH471053;NM_001040710 AAH50462;AAY14667;EAX00756;NP_001035800;Q86W67 Hs.741736 C2orf84;FLJ30851 OTTHUMP00000200743;OTTHUMP00000200746;UPF0638 protein C2orf84;hypothetical protein LOC653140 APPROVED protein-coding ENSG00000186453 HGNC:34418 PROVISIONAL 1603808 FAM225B family with sequence similarity 225, member B (non-protein coding) 9 9 9 q32 86527232 86529024 - 115867003 115873957 - 113104723 113111677 - 12477932;14702039;15489334;16751776 100128385 ABBA01042691;AK125961;AK127516;AK292424;AL045730;AL449105;AL832752;AMYH02021502;BC130412;BC130414;BX647840;CR627046;DQ570421;DQ571780;DQ571857;DQ572605;DQ572606;DQ572607;DQ573397;DQ573908;DQ574887;DQ574900;DQ575404;DQ576305;DQ576533;DQ577277;DQ578062;DQ578188;DQ579733;DQ581277;DQ581278;DQ581891;DQ583471;DQ583481;DQ583739;DQ584057;DQ585563;DQ585781;DQ586509;DQ588160;DQ589037;DQ589038;DQ590002;DQ590868;DQ591165;DQ591410;DQ591759;DQ592077;DQ592348;DQ595729;DQ596022;DQ597462;DQ600133;DQ600761;HG502355;NR_024376 BAF85113 Hs.449459;Hs.99052 1689027 RH98640 C9orf110;LINC00256B;NCRNA00256B APPROVED ncrna ENSG00000225684 HGNC:21865 VALIDATED 7207323 FAM230A family with sequence similarity 230, member A 22 22 q11.21 20706073 20710680 + 18486901 18493066 + 16751776 653203 AC007731;AC011718;AC023490;AK302783;AMYH02038074;AMYH02038075;BX113015;DQ571315;HY015513;JX456222;XM_006724099;XM_006726832 AFU55684;BAG63987;XP_006724162;XP_006726895 Hs.535667;Hs.631667;Hs.730457 DGCR15 protein-coding HGNC:45045 MODEL 2298836 FAM229B family with sequence similarity 229, member B INTERACTS WITH methyl methanesulfonate; valproic acid 6 6 6 q21 113149981 113165299 + 112408674 112423993 + 112087471 112102790 + 6480464 12477932 619208 Q4G0N7 ABBA01026079;AL049461;AMYH02014311;BC044912;BF110308;CH471051;CS072351;NM_001033564;Z99289 AAH44912;CAI93489;EAW48271;NP_001028736;Q4G0N7 Hs.591340 1698762;1710948;1769864;5037552 D6S1259;D8S2279;RH102944;SHGC-84449 C6orf225;DKFZp586F0922 OTTHUMP00000204268;UPF0731 protein C6orf225;hypothetical protein LOC619208 APPROVED protein-coding ENSG00000203778 HGNC:33858 VALIDATED 1343965 FAM22C family with sequence similarity 22, member C q22.3 727807 AL603703;XM_001125950 CAI16680;Q5SWS2;XP_001125950 protein-coding HGNC:23446 7204883 FAM229A family with sequence similarity 229, member A 1 1 1 p35.1 31097347 31098320 - 32826871 32827844 - 32361270 32362243 - 12477932;8889548 100128071 H3BMD6;H3BQW9 ABBA01023428;AL109945;AMYH02000710;BC073915;BC111382;BM977763;BU615827;CH471059;NM_001167676 EAX07533;H3BQW9;NP_001161148 Hs.660539 1697428;1743375 GDB:315593;RH102214 uncharacterized protein LOC100128071 protein-coding ENSG00000225828 HGNC:44652 VALIDATED 7780129 FAM231B family with sequence similarity 231, member B 1 1 p36.13 16865561 16866198 + 16539066 16539703 + 16710414 100133301 A6NCW3 AC244454;AL355149;XM_001721533;XM_003960101 A6NCW3;XP_001721585;XP_003960150 UPF0627 protein ENSP00000364708 protein-coding HGNC:49506 MODEL 7779346 FAM231A family with sequence similarity 231, member A 1 1 p36.13 16999498 17000007 + 16673003 16673512 + 16710414 729574 A6NEA5 AC246792;AL137798;NM_001282321 A6NEA5;NP_001269250 FAM231C UPF0627 protein ENSP00000341061/ENSP00000339743;protein FAM231A/C protein-coding ENSG00000237847 HGNC:49427 INFERRED 7778160 FAM231C family with sequence similarity 231, member C 1 1 p36.13 17060447 17060956 - 35407 35916 + 729587 A6NEA5 AC213203;AC246792;XM_001715369;XM_006726330 XP_001715421;XP_006726393 protein-coding ENSG00000268674 HGNC:49508 MODEL 4109838 FAM230C family with sequence similarity 230, member C 13 13 13 2563 7112 - 24049 61565 + 18195297 18232016 + 12477932;14702039;16344560 26080 AK097777;AL356585;BC040613;DB056745;NR_027278 Hs.448583 1685682;1744293 GDB:451583;RH80696 LINC00281;NCRNA00281 APPROVED ncrna ENSG00000279516 HGNC:24482 PREDICTED 1606400 FAM23B family with sequence similarity 23, member B 10 p12.33 18041262 18085490 + 11181995;15164054;20139978 100289299 AK300456;AL928729;CH471072;XM_002342974 BAG62176;CAH70732;EAW86206;Q5VSJ3;XP_002343015 Hs.730277 FLJ59050;bA162I21.2 OTTHUMP00000019244;hypothetical protein LOC100289299 protein-coding HGNC:23474 MODEL 1603250 FAM230B family with sequence similarity 230, member B (non-protein coding) 22 22 q11.21 21522231 21538924 + 21166903 21192156 + 12477932;14702039;15489334 642633 ABBA01001346;AC008079;AK128837;AMYH02038086;AMYH02038087;AP000550;BC039313;NR_108107;XR_433733 APPROVED ncrna ENSG00000215498 HGNC:32943 VALIDATED 1342610 FAM24A family with sequence similarity 24, member A FOUND IN extracellular region (inferred); INTERACTS WITH potassium dichromate (ortholog) 10 10 10 q26.13 118376663 118379073 + 124670217 124672627 + 122910701 122913111 + 6480464 118670 A6NFZ4 ABBA01062839;AC073585;AMYH02023957;CH471066;HC044851;NM_001029888 A6NFZ4;CBH30755;EAW49299;NP_001025059 Hs.369829 5124237 RH94169 OTTHUMP00000020671 protein-coding ENSG00000203795 HGNC:23470 18720 INFERRED 7778405 FAM231D family with sequence similarity 231, member D 1 1 q21.2 149675895 149676744 + 149703888 149705171 + 12477932 644634 Q6ZW35 AC243772;BC023516;BC136705;NR_111934;XM_005276189;XM_005277490 XP_005276246;XP_005277547 Hs.723057;Hs.728022 ncrna HGNC:49509 VALIDATED 1347345 FAM25A family with sequence similarity 25, member A INTERACTS WITH cisplatin (ortholog); diuron (ortholog); mercaptopurine (ortholog) 10 10 10 q23.2 82783049 82787492 + 88780046 88784487 + 87020289 87024730 + 6480464 11181995;12477932;15164054 643161 B3EWG3;B3EWG4;B3EWG5;B3EWG6 ABBA01033689;AL136982;AMYH02023489;BC171878;BC171915;BQ013919;CH471142;NM_001146157 AAI71878;AAI71915;B3EWG3;EAW80305;EAW80306;NP_001139629 Hs.729945 FAM25B;FAM25C;FAM25G;bA96C23.5 OTTHUMP00000020016;hypothetical protein LOC643161;protein FAM25 protein-coding ENSG00000188100 HGNC:23436 VALIDATED 1352359 FAM24B family with sequence similarity 24, member B ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; crocidolite asbestos 10 10 10 q26.13 118315056 118345603 - 124608610 124639157 - 122849094 122879641 - 737633;6480464;8554872 12477932 12975309;15489334;20379614;24250222 196792 Q8N5W8 ABBA01062839;ABBA01062840;AC073585;AL832386;AL832795;AMYH02023957;AV762334;BC031343;BG490871;BU602099;BU958134;CB410280;CH471066;NM_001204364;NM_152644;NR_037911 AAH31343;CAI46166;EAW49301;NP_001191293;NP_689857;Q8N5W8 Hs.114648 1690732;2163911 RH98409;U75683 DKFZp667I0323;MGC45962 OTTHUMP00000020672;OTTHUMP00000020673;hypothetical protein LOC196792 protein-coding ENSG00000213185 HGNC:23475 13299 VALIDATED 1348711 FAM25D family with sequence similarity 25, member D 10 10 q11.23 45633691 45635583 - 50884513 50886406 - 15164054 728955 AL672187;XM_001128899 A8MYX2;XP_001128899 bA592B15.5 protein-coding ENSG00000214986 HGNC:23588 1352546 FAM25HP family with sequence similarity 25, member H pseudogene 414207 HGNC:23591 1349843 FAM25G family with sequence similarity 25, member G 10 10 10 q11.22 82783059 82787475 + 48247662 48252126 + 47487236 47491700 - 6480464 15164054 100133093 B3EWG3;B3EWG4;B3EWG5;B3EWG6 ABBA01190684;AC245513;AL591684;NM_001137549 B3EWG6;NP_001131021 Hs.723078 FAM25;FAM25A;FAM25B;FAM25C;KIAA0187;bA301J7.4 OTTHUMP00000019530;hypothetical protein LOC100133093 protein-coding ENSG00000189090 HGNC:23590 VALIDATED 1352936 FAM25C family with sequence similarity 25, member C 10 10 10 q11.22 1457 1562 + 49203372 49207825 - 47995339 47999791 - 6480464 12477932;15164054 644054 B3EWG3;B3EWG4;B3EWG5;B3EWG6 AC245041;AL603966;BC127791;BC146955;BC146972;BC146989;BC146990;BC146991;BC147022;BC147026;BC171871;BX093303;NM_001137548 AAI46956;AAI46973;AAI46990;AAI46991;AAI46992;AAI47023;AAI47027;AAI71871;B3EWG5;NP_001131020 Hs.645212;Hs.723078;Hs.99249 5015163;5015861;7185938 D10S16;SHGC-142003 FAM25A;FAM25B;FAM25G;KIAA0187;bA164N7.4 OTTHUMP00000019544;hypothetical protein LOC644054;protein FAM25 protein-coding ENSG00000276430 HGNC:23586 VALIDATED 2305665 FAM228B family with sequence similarity 228, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH quercetin; potassium dichromate (ortholog) 2 2 2 p23.3 24186680 24232794 + 24346350 24392507 + 24123480 24169638 + 6480464;8554872 12477932;14702039;15146197;17207965;18187620;8889548 375190 P0C875 ABBA01045103;ABBA01045104;ABBA01045105;AC008073;AMYH02003410;BC029459;BM722814;BM969566;CH471053;CN395744;KF459608;NM_001145710;NM_001291328;NR_111929;XR_425381;XR_427011;XR_431404 ADQ33111;EAX00757;EAX00758;NP_001139182;NP_001278257;P0C875 Hs.710370 1676508;1719311;1753319;2083760;2147105 REN113127;RH123378;RH16180;SGC34447;SHGC-85370 FLJ30851 OTTHUMP00000200733;OTTHUMP00000200734;UPF0638 protein B;hypothetical protein LOC375190;uncharacterized protein LOC375190 APPROVED protein-coding ENSG00000219626 HGNC:24736 13403 VALIDATED 1343588 FAM25BP family with sequence similarity 25, member B, pseudogene INTERACTS WITH cisplatin (ortholog); diuron (ortholog); mercaptopurine (ortholog) 10 10 10 q11.22 82783059 82787475 + 47177207 47181688 - 46369087 46373563 + 6480464 12477932;15164054 100132929 AC244230;AL391137;BC146968;BF062320;NR_104039 AAI46969;B3EWG4;CAI12205 Hs.645212 FAM25;FAM25A;FAM25B;FAM25C;FAM25G;KIAA0187;bA144G6.8 OTTHUMP00000019524;hypothetical protein LOC100132929 APPROVED pseudo ENSG00000273225 HGNC:23584 VALIDATED 1346045 FAM25E family with sequence similarity 25, member E INTERACTS WITH cisplatin (ortholog); diuron (ortholog); mercaptopurine (ortholog) 10 10 q11.22 45633691 45635583 - 46310876 46312766 - 6480464 643479 A8MYX2 AC012044;XM_001718256;XM_926802 XP_001718308;XP_931895 AC012044.5 protein-coding HGNC:23587 1605771 FAM26F family with sequence similarity 26, member F INVOLVED IN ion transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH progesterone; silicon dioxide; valproic acid 6 6 6 q22.1 117525623 117528003 + 116782533 116784948 + 116461370 116463785 + 6480464 12477932;14574404;23333304;8889548 441168 Q5R3K2;Q5R3K3 ABBA01026046;AF086130;AMYH02014353;AV734646;BC146842;BM704529;CH471051;DN997293;NM_001010919;NM_001276460;XM_005266999;Z84488 AAI46843;EAW48228;NP_001010919;NP_001263389;Q5R3K3;XP_005267056 Hs.381220 1768668 RH65942 C6orf187;RP1-93H18.5;dJ93H18.5 OTTHUMP00000017061;OTTHUMP00000017062;hypothetical protein LOC441168 protein-coding ENSG00000188820 HGNC:33391 18644 VALIDATED 1625809 FAM27C family with sequence similarity 27, member C 9 9 q13 44990236 44991492 + 61854084 61855340 + 12477932;15164053;8889548 100132948 AL391987;AL953889;BC002886;BC073976;BU740628;DR002944;NR_024060;NR_027421 CAI16780;Q5VT28 Hs.645763;Hs.651534 FAM27A;FAM27A1;FAM27A3;bA374M1.5 ncrna ENSG00000154537 HGNC:23668 VALIDATED 1625832 FAM27D1 family with sequence similarity 27, member D1 INTERACTS WITH formaldehyde p11.2 6480464 724094 Q5T7N8 AL162731;AL773537;NM_001098809 CAH71857;CAI13103;NP_001092279;Q5T7N8;Q5VSL6 protein-coding HGNC:32015 1625807 FAM27B family with sequence similarity 27, member B INTERACTS WITH all-trans-retinoic acid 9 9 q13 67792929 67794189 - 67725483 67726743 - 6480464 15164053 100133121 ABBA01032819;AC245454;AK131029;AL627230;NR_027422 Q5VT28 Hs.744835 FAM27A2;bA12A20.3 ncrna HGNC:23667 VALIDATED 7779296 FAM231EP family with sequence similarity 231, member E, pseudogene 1 1 p36.13 17194858 17195363 - 16868363 16868868 - 100132070 AMYH02000387;BX284668;NG_030192 pseudo HGNC:49507 INFERRED 1314099 FAM26D family with sequence similarity 26, member D INVOLVED IN ion transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol (ortholog); potassium dichromate (ortholog) 6 6 6 q22.1 117593268 117623104 + 116850176 116880031 + 116529013 116558868 + 6480464 12477932;12975309;14574404;14702039;15489334;16344560 221301 B0QZ26;Q5JW98 ABBA01026045;AK056801;AK300309;AL121953;AMYH02014354;AY358252;BC057769;CH471051;DA855717;DC381602;HC044651;NM_001256887;NM_001256888;NM_001256889;NM_153036;XM_005266860 AAH57769;AAQ88619;BAB71288;BAG62062;CBH30655;EAW48223;EAW48224;NP_001243816;NP_001243817;NP_001243818;NP_694581;Q5JW98;XP_005266917 Hs.350750 C6orf78;FLJ32239 OTTHUMP00000197130;OTTHUMP00000198749;OTTHUMP00000198750;chromosome 6 open reading frame 78;hypothetical protein LOC221301 protein-coding ENSG00000164451 HGNC:21094 12899 VALIDATED 1604129 FAM27A family with sequence similarity 27, member A 9 q12 45727029 45728283 + 12477932;15164053;8889548 548321 Q5VT28 AK131029;AL953889;AMYH02020292;AMYH02020293;BC002886;NR_024060 CAI16780;Q5VT28 Hs.651534;Hs.744835 FAM27A1;MGC11241;bA7G23.5 ncrna ENSG00000182368 HGNC:19729 VALIDATED 6904124 FAM27E4 family with sequence similarity 27, member E4 9 p11.2 44998147 44998488 + 100132439 XM_001719283 XP_001719335 FAM27E4P family with sequence similarity 27, member E4, pseudogene;protein FAM27E3-like APPROVED protein-coding HGNC:44415 1347792 FAM30A family with sequence similarity 30, member A q32.33 11042152;12477932 29064 Q05C13 AF150199;AF161538;BC016766;BC030286 AAF29025;AAH16766;AAH30286;Q05C13;Q05DB7;Q9NZY2 Hs.649259 C14orf110;HSPC053 chromosome 14 open reading frame 110 protein-coding HGNC:20211 7246275 FAM27E1 family with sequence similarity 27, member E1 9 p11.2 46385604 46387373 - 12477932;15164053;15489334 100287333 Q5T7N7 AL162731;AMYH02020490;BC119676;BY993966;NR_103712 Q5T7N7 Hs.567050 ncrna ENSG00000237198 HGNC:32014 VALIDATED 1343080 FAM32B family with sequence similarity 32, member B (pseudogene) 22 22 22 q11.1 1315641 1317398 + 17694381 17696138 + 17213491 17215248 + 399656 ABBA01001455;AC005399;AMYH02037992;NG_008703;NG_033943 pseudo HGNC:30945 INFERRED 1321291 FAM26E family with sequence similarity 26, member E INVOLVED IN ion transport (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; cadmium dichloride; valproic acid 6 6 6 q22.1 117575879 117582776 + 116832808 116839709 + 116511645 116518546 + 6480464 12477932;14574404;14702039;15489334;23000965 254228 Q8N5C1 ABBA01026045;AK023730;AK094140;AK315572;AL121953;AMYH02014353;AMYH02014354;BC032556;BM478960;BQ001005;CH471051;NM_153711 BAG37946;BAG52825;EAW48226;NP_714922;Q8N5C1 Hs.660142 2126919 SHGC-54632 C6orf188;MGC45451;dJ493F7.3 OTTHUMP00000017067;chromosome 6 open reading frame 188;hypothetical protein LOC254228 protein-coding HGNC:21568 12868 VALIDATED 1602282 FAM27L family with sequence similarity 27-like INTERACTS WITH paracetamol 17 17 17 p11.2 19942307 19943434 + 21825370 21826499 + 22298764 22299893 + 6480464 12477932;15489334;21540461 284123 Q8N5T8 ABBA01006761;AC138761;AMYH02033201;BC031617;CH471221;NR_028336 AAH31617;EAW49114;Q8N5T8 Hs.348578 MGC35151 ncrna ENSG00000178130 HGNC:32410 17335 VALIDATED 3231976 FAM32C family with sequence similarity 32, member C (pseudogene) 10 10 10 q22.2 69789260 69790861 - 76502959 76504560 - 74743201 74744802 - 645646 ABBA01020276;AL357037;AMYH02023355;NG_016627 1726091;1965190 G62298;REN53469 pseudo HGNC:34239 INFERRED 7246552 FAM27E2 family with sequence similarity 27, member E2 9 9 p11.2 45733217 45734983 + 41647674 41649440 + 12477932;15164053;15489334 100289124 Q5SNX5 AI768471;AL162731;AL591926;AL953889;AMYH02020455;BC119676;BE464320;BY993966;NR_103712;NR_103714 CAI16776;Q5SNX5;Q5T7N7 Hs.567050 FAM27E1 ncrna ENSG00000237198 HGNC:32013 VALIDATED 1350093 FAM35BP family with sequence similarity 35, member B, pseudogene 10 10 q11.22 46897641 46939145 + 46610472 46651976 - 7566098 414241 AA305743;AC245163;AL356056;AL731733;AW955523;NR_027632 Hs.594331 FAM35B;FAM35EP;FLJ59018;bA38L15.1 APPROVED pseudo ENSG00000165874 HGNC:31425 PROVISIONAL 2301481 FAM32D family with sequence similarity 32, member D (pseudogene) 18 18 18 q22.1 62223994 62225511 - 65374042 65375559 - 67706805 67708322 - 100190955 ABBA01056267;AC022655;AMYH02034916;NG_008713 pseudo HGNC:34240 INFERRED 2301480 FAM32E family with sequence similarity 32, member E (pseudogene) 12 12 12 q24.32 126548218 126549576 - 126942083 126943441 - 126457537 126458895 - 100190956 ABBA01060319;AC005868;AMYH02027496;NG_008714 pseudo HGNC:34241 INFERRED 7206872 FAM35EP family with sequence similarity 35, member E, pseudogene 10 q11.22 49087398 49094514 + 338598 AL731733;NG_022177 pseudo HGNC:45005 INFERRED 1352346 FAM38B2 family with sequence similarity 38, member B2 p11.22 14702039 284221 AK095053;AK127627;XM_001130754 BAC87063;Q6ZS91;Q8N787;XP_001130754 Hs.651849 C18orf30;HsT771 protein-coding HGNC:27589 10718 2299011 FAM27E3 family with sequence similarity 27, member E3 INTERACTS WITH acetylsalicylic acid; aflatoxin B1; cadmium atom 9 9 q13 67784944 67786625 - 67717498 67719179 - 6480464 12477932;15489334;16189514;18482256;25036637 100131997 Q08E93 ABBA01032819;AC245454;AL627230;BC032035;BC044751;BC119675;BC127258;BC148261;NR_103833 AAH32035;AAI19676;Q08E93 Hs.31240;Hs.651656 MGC149559;MGC42630 ncrna ENSG00000274026 HGNC:28655 VALIDATED 1354134 FAM35A family with sequence similarity 35, member A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 10 10 10 q23.2 4772 6317 - 88854953 88951225 + 87095196 87191468 + 6480464;8554872 12477932;14702039;15164054;15489334;21906983;8619474;9110174 54537 Q86V20;U3KQ89 ABBA01005704;ABBA01005705;ABBA01018460;AF131775;AK022978;AK025471;AK025606;AL136982;AL645992;AMYH02023492;AMYH02023493;BC051863;NM_019054;XM_005269920;XM_006717902;XM_006717903;XM_006717904;XM_006717905;XM_006717906 AAD20041;AAH51863;BAB14342;NP_061927;Q86V20;XP_005269977;XP_006717965;XP_006717966;XP_006717967;XP_006717968;XP_006717969 Hs.500419 1743163;5019148;5124639 Bda18h06;GDB:277890;RH102687 FAM35A1;MGC5560;bA163M19.1 OTTHUMP00000020021;OTTHUMP00000020022;hypothetical protein LOC54537 protein-coding ENSG00000122376 HGNC:28773 09944 VALIDATED 2292064 FAM35DP family with sequence similarity 35, member D, pseudogene 10 10 10 q11.22 1 6311 - 47379720 47421238 + 47689700 47731218 + 6480464 439965 ABBA01018418;AK294120;AMYH02022866;AMYH02022867;BX649215;NR_027634 BAG57453 Hs.283521 FAM35B2;FLJ59018 APPROVED pseudo HGNC:34038 PROVISIONAL 2299187 FAM3C2 family with sequence similarity 3, member C2 (pseudogene) X X p22.11 23093703 23095529 + 23075586 23077412 + 286460 AC117517;AMYH02039020;AMYH02039021;NG_002950 1645762;1645764;1677380;2143470;2151011 A002V29;D7S2158E;RH64602;STS-H88599;WI-16398 MGC45134 pseudo HGNC:34501 INFERRED 1342608 FAM35CP family with sequence similarity 35, member C, pseudogene 14 14 14 q31.3 68464561 68467438 + 88418870 88421747 + 87952526 87955403 + 100128781 ABBA01030534;AL136501;AMYH02029693;NG_008816;NG_011853 1745297;1745299;2146342 GDB:599311;GDB:599315;WI-9280 FAM35A2;FAM35AP APPROVED pseudo HGNC:31427 INFERRED 1316761 FAM32A family with sequence similarity 32, member A ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN apoptotic process (inferred); FOUND IN intracellular membrane-bounded organelle; mitochondrion; nucleolus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; copper(2+) sulfate 19 19 19 pter-p13.3 16198233 16204860 + 16296235 16302857 + 16185424 16192046 + 6480464 10810093;11076863;11230166;11256614;12477932;15489334;15489336;16169070;16381901;19913121;20628086;21339736;21832049;22365833;24250222;24816145 26017 K7EIY1;K7ELZ8;K7ENN5;Q9Y421 ABBA01051132;ABBA01051133;AC020911;AF151902;AK312058;AL050157;AMYH02035672;AMYH02035673;BC000639;BC004447;BC017286;CH471106;NM_014077 AAD34139;AAH00639;AAH04447;AAH17286;BAG34994;CAB43298;CAL38426;CAL38545;EAW84536;EAW84537;EAW84538;NP_054796;Q9Y421 Hs.631614 1652643;1679836;2165093 A001W39;D19S655E;RH47532 OTAG-12;OTAG12 hypothetical protein LOC26017;ovarian tumor associated gene-12;ovarian tumor-associated gene 12 protein-coding ENSG00000105058 HGNC:24563 13305 614554 PREDICTED 2311620 FAM41AY2 family with sequence similarity 41, member A, Y-linked 2 Y Y q11.2 20551156 20566932 - 18389270 18405046 - 9847074 100302526 ABBA01007797;ABBA01007798;AC007241;AC069130;BC042981;NG_004636;NR_028084 Hs.434364 1730037;1752155;2188907 DYF80S1;G65967;SHGC-106098 ncrna HGNC:37135 VALIDATED 1313583 FAM3D family with sequence similarity 3, member D INVOLVED IN negative regulation of insulin secretion; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH fonofos; hydroquinone O-beta-D-glucopyranoside; parathion 3 3 3 p14.2 58633095 58666026 - 58619670 58652575 - 58633943 58666848 - 1580863;6480464;8554872 12160727;12477932;12975309;15489334;16740002;17207965;20677014;21822266;22226334;8889548 131177 C9IZW7;C9J5Z5;C9JB68;F8WCI4;Q96BQ1 ABBA01024377;ABBA01024378;AC119424;AF494381;AK127546;AMYH02006892;AW662283;AY358677;BC015359;CA314533;CH471055;NM_138805;XM_005264862;XM_005264863;XM_005264864;XM_006712965;XM_006712966;XM_006712967 AAH15359;AAM94282;AAQ89040;ADQ31642;BAG54521;EAW65382;NP_620160;Q96BQ1;XP_005264919;XP_005264920;XP_005264921;XP_006713028;XP_006713029;XP_006713030 Hs.61265 1686746 RH80189 EF7;OIT1 OTTHUMP00000214165;OTTHUMP00000214166;cytokine-like protein EF-7 protein-coding ENSG00000198643 HGNC:18665 12271 608619 VALIDATED 1353260 FAM41BY family with sequence similarity 41, member B, Y-linked 414324 HGNC:31688 1346194 FAM43B family with sequence similarity 43, member B INTERACTS WITH (+)-catechin; 5-aza-2'-deoxycytidine; calcitriol 1 1 1 p36.12 19203258 19205839 + 20878932 20881513 + 20552439 20555020 + 6480464 12477932;14702039;16710414;21139048;21461611 163933 Q6ZT52 ABBA01059782;AK126900;AL391357;AMYH02000430;BC015675;BC142610;BC142686;NM_207334 AAI42611;AAI42687;BAC86742;NP_997217;Q6ZT52 Hs.429179 FLJ44952 OTTHUMP00000063209 protein-coding ENSG00000183114 HGNC:31791 16881 VALIDATED 1345832 FAM3C family with sequence similarity 3, member C This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010] 7 7 7 q31 115798102 115845614 - 120988905 121036422 - 121348851 121396368 - 1580863;6480464 12160727;12477932;12853948;15252450;15489334;15985535;16215274;16344560;16406369;16959614;17255364;18029348;19109932;19396169;20379614;21906983;22159821;22792070;22939629;24072492;9847074 10447 C9JMN4;C9JP35;Q92520 ABBA01057760;AC006364;AC079401;AK290682;AK292731;AMYH02016666;AMYH02016667;BC024200;BC046932;BC068526;CA446040;CH236947;CH471070;CS079683;CS359956;D87120;DA144459;DA489351;DA501135;DQ786255;NM_001040020;NM_014888 AAH24200;AAH46932;AAH68526;BAA13251;BAF83371;BAF85420;CAI94481;CAL31920;EAW83558;NP_001035109;NP_055703;Q92520 Hs.434053 1645762;1645764;1652723;1677380;1695512;1712673;1751207;1771086;1772965;1775388;1846989;1857705;2141694;2143470;2151011;2164650 A002V29;A004T29;A007A03;D7S1648;D7S2158E;D7S2821;D7S705;GDB:6028505;RH122000;RH48532;RH64602;SHGC-105051;SHGC-68665;STS-H88599;WI-14616;WI-16398 GS3786;ILEI OTTHUMP00000211219;OTTHUMP00000211220;OTTHUMP00000211222;interleukin-like EMT inducer;interleukin-like epithelial-mesenchymal transition inducer;predicted osteoblast protein APPROVED protein-coding ENSG00000196937 HGNC:18664 12270 608618 REVIEWED 1353463 FAM41AY1 family with sequence similarity 41, member A, Y-linked 1 INTERACTS WITH hydralazine; valproic acid Y Y Y q11.221 4961477 4977253 + 19612838 19628622 + 17500958 17516742 + 737633;6480464 12477932 9847074 340618 AC015978;BC042981;HG512853;HG512856;NR_028083 Hs.434364;Hs.742348 1730037;1752155;2188907 DYF80S1;G65967;SHGC-106098 AC069130.1;FAM41AY ncrna HGNC:23955 VALIDATED 1349782 FAM3A family with sequence similarity 3, member A This gene encodes a cytokine-like protein. The expression of this gene may be regulated by peroxisome proliferator-activated receptor gamma, and the encoded protein may be involved in the regulation of glucose and lipid metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X q28 153894374 153905613 - 153733323 153744572 - 154506159 154516242 - 6480464 12160727;12477932;15489334;15772651;16406369;17207965;18212107;21832049;21988832;23446634;23562554;23855304;24250222;24806753;8248200;8281148;8733135 60343 A6QRH7;A6QRH8;D3DWX8;F8WB47;F8WCK6;F8WD39;F8WEM7;F8WEW8;P98173;Q5HY75;Q9BU27 ABBA01045269;ABBA01045270;ABBA01045271;AC244090;AK024601;AK057945;AK124890;AK294116;AK314682;AL539139;AW612420;BC002934;BC008912;BM457676;BX664739;CH471172;CX867071;L44140;NG_016401;NM_001171132;NM_001171133;NM_001171134;NM_001282311;NM_001282312;NM_021806;X55448;X74610;X87193;XM_005274714;XM_005274716;XM_005277879;XM_006724831;XM_006724832;XM_006724833;XM_006724834 AAA92652;AAH02934;AAH08912;ACE86913;ACE87600;ADQ31641;BAG37234;BAG57449;CAA39090;CAA60645;EAW72688;EAW72689;EAW72690;EAW72691;EAW72692;EAW72693;EAW72694;EAW72695;EAW72696;NP_001164603;NP_001164604;NP_001164605;NP_001269240;NP_001269241;NP_068578;P98173;XP_005274771;XP_005274773;XP_005277936;XP_006724894;XP_006724895;XP_006724896;XP_006724897 Hs.289108 1800408;1801180;1801916;1807498;1810022;1812092;1827790;1829370;1835192;2037650;2037652;2037654;2037656;2037658;2037660;2037662;2037664;2037666;2037668;2037670;2037672;2037674;2037676;2037678;2037680;2037682;2037684;2037686;2037688;2037690;2037692;2037694;2037696;2037698;2037700;2037702;2037704;2037706;2037708;2037710;2037712;2037714;2037716;2037718;2037720;2037722;2037724;2037726;2037728;2037730;2037732;2037734;2037736;2037738;2037740;2037742;2037744;2037746;2037748;2037750;2037752;2037754;2037756;2102608;2102610;2108083;2134304;5019070;5022578;5037552;5112017 D1S1423;D8S2279;ECD01064;ECD01462;ECD01839;ECD04721;ECD06003;ECD07051;ECD15017;ECD15816;ECD18751;FAM3A__7632;G44334;G44365;REN89838;REN89839;REN89840;REN89841;REN89842;REN89843;REN89844;REN89845;REN89846;REN89847;REN89848;REN89849;REN89850;REN89851;REN89852;REN89853;REN89854;REN89855;REN89856;REN89857;REN89858;REN89859;REN89860;REN89861;REN89862;REN89863;REN89864;REN89865;REN89866;REN89867;REN89868;REN89869;REN89870;REN89871;REN89872;REN89873;REN89874;REN89875;REN89876;REN89877;REN89878;REN89879;REN89880;REN89881;REN89882;REN89883;REN89884;REN89885;REN89886;REN89887;REN89888;REN89889;REN89890;REN89891;RH78316;stSG604102;stSG604103 2-19;2.19;DLD;DXS560S;XAP-7 OTTHUMP00000015418;OTTHUMP00000015419;OTTHUMP00000015420;OTTHUMP00000015422;OTTHUMP00000196191;OTTHUMP00000196464;cytokine-like protein 2-19;family 3, member A protein protein-coding ENSG00000071889 HGNC:13749 06505 300492 REVIEWED 1343774 FAM43A family with sequence similarity 43, member A INTERACTS WITH (R)-pantothenic acid; 17beta-estradiol; afimoxifene 3 3 3 q29 192820433 192823578 + 194406622 194409766 + 194685893 194689037 + 737633;6480464 12477932 14702039;15489334;15498874;7829101 131583 Q8N2R8 ABBA01001621;AC046143;AF147314;AF289585;AK074503;AMYH02008455;BC039689;BC064989;BG107959;BG110772;BI494721;BM561125;BQ009970;CH471052;NM_153690 AAH39689;AAH64989;AAL55769;BAC11027;EAW78033;NP_710157;Q8N2R8 Hs.435080 2118719;2140705 SHGC-34977;STS-W92258 FLJ90022 OTTHUMP00000209072;hypothetical protein LOC131583 protein-coding HGNC:26888 13308 VALIDATED 1323237 FAM3B family with sequence similarity 3, member B INVOLVED IN insulin secretion; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH copper(2+) sulfate; fonofos; parathion 21 21 21 q22.3 27886894 27927901 + 42688661 42729654 + 41316734 41357727 + 6480464;8554872 10830953;11707072;12160727;12477932;12975309;15489334;16114871;16249448;17255364;19199708;20237496;20379614;21832049;23059759;23246487;23300138;23855304;23903356;24468680 54097 A8MTF8;P58499 ABBA01044663;AF375989;AF494379;AJ409094;AK125528;AL773578;AMYH02037857;AY040086;AY358459;BC036314;BC057829;BF514643;BI712971;CH471079;CS488895;KC877895;NM_058186;NM_206964;XM_006724024;XR_430351 AAH57829;AAK74134;AAL34495;AAM94280;AAQ88824;ADR82668;CAC83974;CAM55969;EAX09608;EAX09609;EAX09610;NP_478066;NP_996847;P58499;XP_006724087 Hs.473877;Hs.670704 1674433;1730910;1754531;2143172 D21S1224;D21S64;SHGC-132814;SHGC-52452 2-21;C21orf11;C21orf76;ORF9;PRED44 D21M16SJHU19e;OTTHUMP00000109238;OTTHUMP00000109239;OTTHUMP00000109240;OTTHUMP00000109241;PANDER;cytokine-like protein 2-21;pancreatic derived factor;pancreatic-derived factor protein-coding ENSG00000183844 HGNC:1253 10552 608617 VALIDATED 1346862 FAM45B family with sequence similarity 45, member B (pseudogene) INTERACTS WITH elemental selenium; hydrogen peroxide; pirinixic acid X X X q26.1 130015381 130017889 + 129628915 129631422 + 130494941 130497448 + 737633;6480464 12477932 10931946;15489334;17207965;21139048 55855 Q6NSW5 ABBA01047936;AF220185;AK297971;AMYH02040483;BC069821;CH471107;NG_021369;NR_027141;Z82195 AAF67650;ADQ31946;BAG60281;EAX11798 Hs.567120 2110463;2173648 HT011__6610.2;NIB1107 HT011 APPROVED pseudo HGNC:30886 06592 VALIDATED 1352086 FAM46C family with sequence similarity 46, member C ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 p12 116376272 116398670 + 118148604 118171011 + 117605982 117628389 + 737633;6480464;8554872 12477932 14702039;15489334;16189514;16710414;19322201;21478870;21906983;21963094;21994415;24250222;24722188 54855 Q5VWP2 ABBA01068503;AK000209;AK091327;AL046016;AL365331;AMYH02001801;BC036516;BC131726;CD300120;CH471122;NM_017709 AAH36516;AAI31727;BAA91010;EAW56679;NP_060179;Q5VWP2 Hs.356216 1335443;1654682;1692498;1725443;1775810;2110397;2176336;7185011 AL033901;D1S453;FAM46C_9835;RH119117;SGC34840;SHGC-75377;SHGC-75381 FLJ20202 OTTHUMP00000015538;hypothetical protein LOC54855 protein-coding ENSG00000183508 HGNC:24712 13312 613952 VALIDATED 1344685 FAM45A family with sequence similarity 45, member A INTERACTS WITH aflatoxin B1; copper(2+) sulfate; dioxygen 10 10 10 q25 114594076 114626795 + 120863594 120897496 + 119104065 119137984 + 6480464 12477932;14702039;15489334;17207965 404636 B4DDW8;B4DMU4;B4DNL9;Q8TCE6 ABBA01062909;ABBA01062910;ABBA01062911;ABBA01062912;AF168713;AK000031;AK025354;AK027029;AK293136;AK293365;AK297633;AL355598;AMYH02023902;BC022271;BI753197;BU622639;CA414818;CH471066;NM_207009;XM_005269833;XM_006717849;XM_006717850;XM_006717851;XM_006717852 AAF87315;AAH22271;ADQ32122;BAA90894;BAG56684;BAG56879;BAG60006;EAW49405;EAW49406;EAW49407;NP_996892;Q8TCE6;XP_005269890;XP_006717912;XP_006717913;XP_006717914;XP_006717915 Hs.434241 2110463;2173648;5015961;5022322;5022651 D11S2560;D11S2921;D15S1477;HT011__6610.2;NIB1107 OTTHUMP00000020588;hypothetical protein LOC404636 protein-coding HGNC:31793 13310 VALIDATED 1604353 FAM46A family with sequence similarity 46, member A ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of blood coagulation; regulation of gene expression; INTERACTS WITH 8-bromo-3',5'-cyclic AMP; aflatoxin B1; all-trans-retinoic acid 6 6 6 q14 82878343 82885324 - 82366829 82462607 - 81745730 81752711 - 6480464 12054608;12477932;14574404;14702039;15231748;15489334;16344560;16545789;16713569;16924696;17207965;17803723;19322201;20734064;20881960;21906983;21963094;21987572;21988832;22976474;23275563;23291589;23563607;23972371 55603 H0Y5Y3;H0Y6D7;Q5TF85;Q96IP4 ABBA01040441;AF350451;AI131001;AJ420583;AJ420591;AJ420592;AK000044;AK056057;AK096704;AK292109;AL078599;AMYH02013992;AY740520;BC000683;BC007351;BX648876;CH471051;DA981608;NM_017633 AAH00683;AAH07351;AAM53071;AAW66943;ADQ32416;BAA90903;BAF84798;EAW48691;EAW48692;NP_060103;Q96IP4 Hs.10784 1646658;1654143;1778744;2132318;2136106;2164362;2177075 A008J23;D6S1495;RH1517;RH18551;RH45697;RH46837;WI-18234 C6orf37;FLJ20037;FLJ31495;XTP11 HBV X-transactivated gene 11 protein;HBV XAg-transactivated protein 11;OTTHUMP00000016779;OTTHUMP00000016782;hypothetical protein LOC55603;retinal expressed gene C6orf37 protein-coding ENSG00000112773 HGNC:18345 13311 611357 VALIDATED 1342738 FAM41C family with sequence similarity 41, member C 1 1 1 p36.33 1777424 1788563 + 803451 812182 - 868071 876802 - 737633 12477932 16710414 284593 ABBA01016000;ABBA01016001;AL669831;AMYH02000068;BC047940;HG491567;KF454898;NR_027055 Hs.449006 5126156 SHGC-74087 ncrna ENSG00000230368 HGNC:27635 PREDICTED 1348599 FAM46D family with sequence similarity 46, member D Antibodies against the protein encoded by this gene were found only in plasma from cancer patients. While it may be a target for immunotherapy, the function of this gene is unknown. [provided by RefSeq, Dec 2009] X X X q21.1 79831129 79940938 + 79591003 79700810 + 80335504 80445311 + 737633;8554872 12477932 15489334;15772651;16189514;19377476;19540335 169966 Q8NEK8 ABBA01049102;ABBA01049103;ABBA01049104;ABBA01049105;ABBA01049106;ABBA01049107;ABBA01049108;AK128147;AK313875;AL591431;AMYH02039840;AMYH02039841;AMYH02039842;BC028710;BC030784;BC034979;BX506299;BX537938;CH471104;NG_016384;NM_001170574;NM_152630 AAH28710;AAH30784;AAH34979;ABM81772;ABM84926;BAG36603;BAG54638;CAD97909;EAW98586;NP_001164045;NP_689843;Q8NEK8 Hs.367959 1787406;2158303 AF020147;SHGC-70166 CT1.26;CT112;MGC26999 OTTHUMP00000023605;cancer/testis antigen 112;hypothetical protein LOC169966 APPROVED protein-coding ENSG00000174016 HGNC:28399 06643 VALIDATED 1344119 FAM47B family with sequence similarity 47, member B X X X p21.1 39088163 39090284 + 34960913 34963034 + 34942796 34944917 + 737633 12477932 14702039;15489334;15772651;21832049 170062 Q8NA70 ABBA01073431;AK093101;AL043092;AL043093;AL645585;AMYH02039158;BC035026;CH471074;NG_021372;NM_152631 AAH35026;BAC04056;EAW99072;NP_689844;Q8NA70 Hs.197801 FLJ35782 OTTHUMP00000023131;hypothetical protein LOC170062 protein-coding ENSG00000189132 HGNC:26659 06559 VALIDATED 7243020 FAM47E-STBD1 FAM47E-STBD1 readthrough This locus represents naturally occurring read-through transcription between the neighboring FAM47E (family with sequence similarity 47, member E) and STBD1 (starch binding domain 1) genes on chromosome 4. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Jul 2011] 4 4 q 77172853 77232283 + 76251700 76311130 + 6480464 11181995;14702039;19915575;20967262;21738487;9847074 100631383 B3KMK8;Q6ZV65 ABBA01063357;ABBA01063358;AC034139;AK090914;AK092277;AK296418;AK316039;AMYH02009511;AMYH02009512;CH471057;NM_001242939 BAG52246;BAG52516;BAG59080;BAH14410;EAX05784;EAX05786;EAX05787;NP_001229868 Hs.720509 1695310;1754701;2153233;2165038;2184164 D4S2479E;SHGC-133062;SHGC-63500;SHGC-63501;WI-17734 uncharacterized protein LOC100631383 protein-coding ENSG00000272414 HGNC:44667 VALIDATED 1605768 FAM47C family with sequence similarity 47, member C This gene encodes a product belonging to a family of proteins with unknown function. The coding sequence of this family member includes several tandemly repeated regions. [provided by RefSeq, Sep 2011] X X X p21.1 41150900 41154207 + 37026432 37029739 + 37008359 37011666 + 6480464;8554872 16344560 442444 Q5HY64 ABBA01073632;AK125992;AMYH02039167;BX842568;DB082026;HC006948;HC044829;NG_021373;NM_001013736 BAC86381;CBH19279;CBH30744;NP_001013758;Q5HY64 Hs.535216 OTTHUMP00000025696;putative protein FAM47C APPROVED protein-coding ENSG00000198173 HGNC:25301 18474 VALIDATED 1347430 FAM47A family with sequence similarity 47, member A ASSOCIATED WITH Melanoma (inferred) X X X p21.1 38275096 38277674 - 34147869 34150447 - 34129752 34132330 - 737633;8554872 12477932 15489334;15772651;17924679;18029348;24024966 158724 Q5JRC9 ABBA01073354;AI141715;AK292354;AL591625;AMYH02039153;BC026171;CH471074;DB445010;NG_021359;NM_203408 AAH26171;BAF85043;EAW99068;NP_981953;Q5JRC9 Hs.143268 MGC27003 OTTHUMP00000023129;hypothetical protein LOC158724 protein-coding ENSG00000185448 HGNC:29962 10947 VALIDATED 2302124 FAM47E family with sequence similarity 47, member E INTERACTS WITH 17beta-estradiol; aflatoxin B1 (ortholog); phenobarbital (ortholog) 4 4 4 q21.1 74472978 74505062 + 77135193 77204936 + 76214040 76283783 + 6480464 11181995;14702039;16344560;19915575;20379614;21738487;24250222;8889548;8889549 100129583 D6RA91;D6RBT2;F6W5V1;Q6ZV65;U3KQR7 ABBA01063357;AC034139;AK124936;AK310457;AMYH02009509;AMYH02009510;AMYH02009511;BC020802;BM713546;CH471057;CR627383;DB081518;N55430;NM_001136570;NM_001242936 BAC85998;EAX05785;NP_001130042;NP_001229865;Q6ZV65 Hs.720509 1676414;1726703;1750235;5017064 G62738;REN32890;RH99167;SHGC-112489 FLJ34958 OTTHUMP00000219090;OTTHUMP00000219093;OTTHUMP00000219094;hypothetical protein LOC100129583 protein-coding ENSG00000189157 HGNC:34343 VALIDATED 1354500 FAM49B family with sequence similarity 49, member B ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; all-trans-retinoic acid 8 8 8 q24.21 127031822 127130443 - 130851839 131028897 - 129839593 130016651 - 6480464;8554872 11042152;12477932;14702039;15334068;15489334;16344560;17207965;18464913;18781797;19056867;19322201;21139048;21555518;21738480;21890473;21900206;21906983;21963094;22505724;23000965;23726511;24250222;24816145 51571 E5RFS4;E5RGI7;E5RH75;E5RHU5;E5RI16;E5RIR8;E5RJE1;E5RJL8;E5RK61;E5RK81;Q9NUQ9 ABBA01037971;ABBA01037972;ABBA01037973;AC022973;AC131568;AF208851;AK001226;AK002059;AK130372;AMYH02018779;AMYH02018780;AMYH02018781;AMYH02018782;AX876263;AX878096;AY364259;AY598320;BC003599;BC016345;BC017297;BX419336;CH471060;CR749628;DA371541;KF458847;KF495742;NM_001256763;NM_016623;NR_046359;NR_046360;NR_046361;XM_005250966;XM_006716582;XM_006716583 AAF64265;AAH03599;AAH16345;AAH17297;AAQ76818;AAT06731;ADQ33146;BAA91566;BAA92062;CAE89192;CAE90009;CAH18422;EAW92125;EAW92126;EAW92127;EAW92128;NP_001243692;NP_057707;Q9NUQ9;XP_005251023;XP_006716645;XP_006716646 Hs.126941 1342039;1658275;1668590;1725037;1765559;1769945;2114702;2165240;5015961;5022322;5037552 D11S2560;D15S1477;D8S1701;D8S1968;D8S2279;G09539;RH118815;RH12645;RH69999;SHGC-149025;WI-15117 BM-009;DKFZp686B04128;L1 OTTHUMP00000227563;OTTHUMP00000227564;OTTHUMP00000227565;OTTHUMP00000227566;OTTHUMP00000227567;OTTHUMP00000227568;OTTHUMP00000227569;OTTHUMP00000227570;OTTHUMP00000227571;hypothetical protein LOC51571 protein-coding ENSG00000153310 HGNC:25216 13313 VALIDATED 1348694 FAM49A family with sequence similarity 49, member A ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular; INTERACTS WITH calcitriol; cyclosporin A; melphalan 2 2 2 p24.2 16610797 16684917 - 16730727 16847134 - 16549459 16665866 - 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16344560;16381901;23333304;8619474;9110174 81553 C9IYV6;C9JPE5;Q9H0Q0 ABBA01018513;AC008164;AC104623;AF131789;AK001942;AK055334;AK091280;AK315065;AL136704;AMYH02003325;AMYH02003326;AMYH02003327;AMYH02003328;AMYH02003329;AMYH02003330;AMYH02003331;AMYH02003332;BC038971;CH471053;CR533504;DA188616;NM_030797;XM_005262630;XM_006712108 AAH38971;AAY24282;ACT64351;ACT64352;BAG37539;BAG51503;BAG52323;CAB66639;CAG38535;CAL37916;CAL38652;EAX00878;EAX00879;NP_110424;Q9H0Q0;XP_005262687;XP_006712171 Hs.467769 1710912;1734936;2122365;2131384 A006V13;D2S1699E;SHGC-64850;SHGC-84078 DKFZp566A1524;FLJ11080;FLJ33961 OTTHUMP00000115751;OTTHUMP00000200457 protein-coding ENSG00000197872 HGNC:25373 07729 VALIDATED 1352003 FAM50B family with sequence similarity 50, member B FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; valproic acid 6 6 6 p25.2 5078622 5080541 + 3849632 3851551 + 3849398 3851317 + 1580863;6480464 10534398;12477932;15489334;16189514;17207965;18515502;19060904;21693764;22939629;23648065 26240 Q9Y247 ABBA01021996;AL391422;AMYH02013004;BC001261;CH471087;NM_012135;Y18503;Y18504 AAH01261;ADQ32294;CAB46272;CAB46273;EAW55142;EAW55143;NP_036267;Q9Y247 Hs.140944 1657825 SHGC-36878 D6S2654E;X5L OTTHUMP00000015970;OTTHUMP00000015971;protein XAP-5-like protein-coding ENSG00000145945 HGNC:18789 16883 614686 PROVISIONAL 2950048 FAM47DP family with sequence similarity 47, member D, pseudogene X X X p21.1 41537845 41542196 - 37400182 37404512 - 37540929 37545259 - 139249 A6NHR8 ABBA01047117;AC233283;AL627244;AMYH02039169;NG_008058 A6NHR8 APPROVED pseudo HGNC:34342 INFERRED 1354003 FAM53C family with sequence similarity 53, member C INTERACTS WITH aflatoxin B1; arsane; arsenic atom 5 5 5 q31 133794053 133806249 + 137673224 137685418 + 138337535 138349729 + 6480464 11087669;11161817;12477932;14702039;15302935;15489334;16344560;17207965;17979178;20936779;23602568 51307 D6RE00;D6RHW3;Q9NYF3 ABBA01068681;AC104116;AF251040;AK027412;AK310378;AK315567;AMYH02012291;BC000259;BC052993;CH471062;DA216192;DB035183;NM_001135647;NM_016605 AAF63766;AAH00259;AAH52993;ADQ32415;BAG37942;EAW62143;EAW62144;NP_001129119;NP_057689;Q9NYF3 Hs.54056 1665977;1780668;2130972;2182462 RH12724;RH48553;RH69348;bac51558S C5orf6 OTTHUMP00000159487;OTTHUMP00000224021;hypothetical protein LOC51307;putative nuclear protein protein-coding ENSG00000120709 HGNC:1336 10785 609372 VALIDATED 7774361 FAM53B-AS1 FAM53B antisense RNA 1 10 10 q26.13 126392490 126402272 + 124703921 124713643 + 12477932 101927944 AC068896;AW003106;BC041007;HG503329;NR_120630;NR_120631;XR_428821;XR_428822 Hs.437448 RP11-464O2.2 ncrna HGNC:49499 VALIDATED 1605610 FAM57B family with sequence similarity 57, member B ENCODES a protein that exhibits sphingosine N-acyltransferase activity (inferred); INVOLVED IN ceramide biosynthetic process (inferred); negative regulation of fat cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH paracetamol 16 16 16 p11.2 72753538 72759976 + 30035748 30064338 - 30024427 30053012 - 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15489334;15489336;15498874;16381901;21697133;23275342 83723 F1T0F5;H3BST4;H3BUM7;H3BUS2;I3L180;Q71RH2 AB593089;AB593090;ABBA01013108;ABBA01013109;AC093512;AC243947;AF370365;AK097527;AL136777;AL535138;BC007892;CH471238;NM_031478;XM_005255612;XM_005255613;XM_005255614;XM_005255615;XM_005255616 AAH07892;AAQ15201;BAJ84029;BAJ84030;CAB66711;CAL37764;CAL38514;EAW79937;EAW79938;EAW79939;NP_113666;Q71RH2;XP_005255669;XP_005255670;XP_005255671;XP_005255672;XP_005255673 Hs.558560;Hs.736831 1675614 RH78407 DKFZp434I2117;FP1188 OTTHUMP00000162980;OTTHUMP00000162981;hypothetical protein LOC83723 protein-coding ENSG00000149926 HGNC:25295 13156 615175 VALIDATED 1344774 FAM46B family with sequence similarity 46, member B INTERACTS WITH 3,4-dichloroaniline; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 1 1 1 p36.11 25728601 25736421 - 27331511 27339333 - 27005020 27012842 - 737633;6480464 12477932 14702039;15146197;15489334;16189514;16710414;16713569;19060904;23275563 115572 Q96A09 ABBA01034944;AK122816;AL356390;AMYH02000585;BC012790;BC014160;BC036320;CH471059;CN311438;NM_052943 AAH12790;AAH14160;ABM84423;ABW03574;EAX07777;NP_443175;Q96A09 Hs.632378 1697058 RH102008 MGC16491;MGC20845;RP11-344H11.8 OTTHUMP00000004474;hypothetical protein LOC115572 protein-coding ENSG00000158246 HGNC:28273 16882 VALIDATED 1603153 FAM58BP family with sequence similarity 58, member B, pseudogene ENCODES a protein that exhibits protein kinase binding (inferred); INVOLVED IN regulation of cyclin-dependent protein serine/threonine kinase activity (inferred); regulation of transcription, DNA-templated (inferred); INTERACTS WITH fipronil (ortholog); indole-3-methanol (ortholog); rotenone (ortholog) 1 1 1 q32.1 173305295 173306282 + 200182660 200183902 + 200213532 200214774 + 6480464 12477932;15897902 339521 P0C7Q3 ABBA01027556;AL590126;AMYH02002457;CH471067;NG_033015 AAI72299;EAW91309;P0C7Q3 FAM58B cyclin-related protein FAM58B;family with sequence similarity 58, member B;putative cyclin-related protein FAM58B APPROVED pseudo HGNC:27373 INFERRED 1350576 FAM53B family with sequence similarity 53, member B INTERACTS WITH benzo[a]pyrene; elemental selenium; selenium atom 10 10 10 q26.13 120081758 120206847 - 126307861 126432930 - 124619294 124744361 - 737633;6480464 12477932 12107410;14702039;15489334;19727342;23251661;23958962;8590280 9679 Q14153 ABBA01034148;AC068896;AK127323;AK127343;AL136232;AL513190;AMYH02023977;AMYH02023978;AW504054;BC031654;BX344666;CA397342;CH471066;D50930;NM_014661 AAH31654;BAA09489;BAG54488;EAW49259;EAW49260;EAW49261;EAW49262;NP_055476;Q14153 Hs.129195 1662686;1685698;1686742;1700098;2117321;2125171 RH103662;RH25363;RH44640;RH44867;RH8129;STS-AA007633 FLJ13019;KIAA0140;RP11-12J10.2;bA12J10.2 OTTHUMP00000020694;OTTHUMP00000020695;OTTHUMP00000245220;hypothetical protein LOC9679 protein-coding ENSG00000189319 HGNC:28968 13314 VALIDATED 1604984 FAM53A family with sequence similarity 53, member A ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsane; arsenic atom; methyl methanesulfonate 4 4 4 p16.3 1552616 1597093 - 1641608 1685988 - 1639881 1684261 - 6480464;8554872 11984880;12477932;14702039;15489334;21832049;8889548 152877 C9J9E1;C9JYQ7;H0Y9F1;Q6NSI3 ABBA01029534;ABBA01029535;ABBA01029536;AC016773;AC147067;AK125566;AMYH02008585;BC042071;BC070112;BM676712;CH471131;HY040719;NM_001013622;NM_001174070;NM_001297435;XM_005247948;XM_006713861 AAH70112;BAC86205;EAW82581;EAW82582;NP_001013644;NP_001167541;NP_001284364;Q6NSI3;XP_005248005;XP_006713924 Hs.143314 2123492 G41951 DNTNP OTTHUMP00000216751;OTTHUMP00000216752;OTTHUMP00000216796;OTTHUMP00000217523;dorsal neural-tube nuclear protein protein-coding ENSG00000174137 HGNC:31860 12900 VALIDATED 6483749 FAM58DP family with sequence similarity 58, member D, pseudogene 13 13 19956399 19957448 + 19382259 19383308 + 100421566 ABBA01068554;AL356259;AMYH02027613;NG_024890 pseudo HGNC:42022 VALIDATED 1347576 FAM60A family with sequence similarity 60, member A INVOLVED IN negative regulation of cell migration; ASSOCIATED WITH Melanoma (inferred); FOUND IN Sin3 complex; INTERACTS WITH benzo[a]pyrene diol epoxide I; cisplatin; copper(2+) sulfate 12 12 12 p11 11254383 11300023 - 31433356 31479159 - 31280422 31326225 - 737633;6480464;8554872 12477932 11042152;11076863;11230166;14702039;15334068;15489334;15489336;16189514;16344560;16381901;19322201;21963094;22505724;22865885;22984288;23752268;24163370;24250222;24457600 58516 F5GZ82;F5H6U2;H0YGG0;Q9NP50 ABBA01031756;ABBA01031757;AC024940;AF087885;AF212220;AK026932;AK294457;AL157432;AMYH02026272;AX014855;AX405854;AY598323;BC000024;BC004462;BC071966;BX648630;CH471116;DA741767;DR763430;FB775512;LK938707;NM_001135811;NM_001135812;NM_021238;XM_005253456;XM_005253457;XM_005253458;XM_006725149;XM_006725150;XM_006725151 AAF87322;AAH00024;AAH04462;AAH71966;AAP97184;AAT06734;BAB15592;BAH11773;CAB75656;CAD34961;CAL37992;CAV30713;EAW88561;EAW88562;EAW88563;EAW88564;EAW88565;EAW88566;EAW88567;NP_001129283;NP_001129284;NP_067061;Q9NP50;XP_005253513;XP_005253514;XP_005253515;XP_006725212;XP_006725213;XP_006725214 Hs.505154 1340024;1725971;1752359;5037552 D12S61;D8S2279;G62330;SHGC-106300 C12orf14;L4;TERA OTTHUMP00000239099;OTTHUMP00000239100;chromosome 12 open reading frame 14;tera protein homolog protein-coding ENSG00000139146 HGNC:30702 16588 615027 VALIDATED 1344714 FAM50A family with sequence similarity 50, member A This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor. [provided by RefSeq, Sep 2009] X X X q28 153833529 153840045 + 153672473 153679002 + 154444126 154450654 + 1580863;6480464 10534398;11076863;11256614;12477932;15489334;15489336;15772651;16344560;16381901;18029348;19471022;19913121;20628086;21139048;21832049;21890473;22505724;22939629;24816145;8248200;8733135;8889548;9039504;9339379 9130 B0S8I6;Q14320 ABBA01045279;ABBA01045280;ABBA01045281;AC244090;AD001530;AK293119;AK313697;AL365368;AU143518;BC000028;BC015499;BQ018378;BU679052;BX936365;CH471172;CR992165;D83260;D83389;HI574110;L44140;NG_013233;NM_004699;X87199 AAA92649;AAB81663;AAH00028;AAH15499;BAA11871;BAA11907;BAF85808;BAG36444;CAL38203;CBX47544;EAW72704;EAW72705;EAW72706;EAW72707;EAW72708;NP_004690;Q14320 Hs.54277 1665745;1807754;1808242;1812162;1812628;1813730;1816458;1816622;1817284;1817662;1844912;1845378;2037156;2037158;2037160;2037162;2037164;2037166;2037168;2037170;2037172;2037174;2037176;2037178;2037180;2037182;2037184;2037186;2037188;2037190;2037192;2037194;2037196;2037198;2037200;2037202;2037204;2037206;2037208;2037210;2037212;2037214;2037216;2037218;2037220;2037222;2037224;2037226;2037228;2037230;2037232;2037234;2037236;2102548;2102550;2102552;2102554;2102556;2102558;2107147;2176605;2190599;5021048 DXS9771;ECD04850;ECD05102;ECD07086;ECD07324;ECD07888;ECD09271;ECD09353;ECD09692;ECD09883;ECD23672;ECD23906;GDI1;GDI1__6799;REN89589;REN89590;REN89591;REN89592;REN89593;REN89594;REN89595;REN89596;REN89597;REN89598;REN89599;REN89600;REN89601;REN89602;REN89603;REN89604;REN89605;REN89606;REN89607;REN89608;REN89609;REN89610;REN89611;REN89612;REN89613;REN89614;REN89615;REN89616;REN89617;REN89618;REN89619;REN89620;REN89621;REN89622;REN89623;REN89624;REN89625;REN89626;REN89627;REN89628;REN89629;RH77733;SGC34656;stSG604053;stSG604055;stSG604056;stSG604057;stSG604058;stSG604059 9F;DXS9928E;HXC-26;HXC26;XAP-5;XAP5 OTTHUMP00000032117;OTTHUMP00000198798 APPROVED protein-coding ENSG00000071859 HGNC:18786 02349 300453 REVIEWED 5508553 FAM60BP family with sequence similarity 60, member B pseudogene 18 18 18 q11.2 20646019 20646678 - 23835662 23836321 - 26255698 26256357 - 100421588 ABBA01022580;AC016839;AMYH02034453;NG_026282;NG_034162 HsT2323 pseudo HGNC:19052 INFERRED 4108538 FAM58CP family with sequence similarity 58, member C, pseudogene Y Y Y 9704475 9705198 - 28772470 28773515 - 26626323 26627368 - 100421487 ABBA01015475;AC019099;NG_021933 FAM58AP1;FAM58Y APPROVED pseudo HGNC:38436 VALIDATED 1604005 FAM64A family with sequence similarity 64, member A INVOLVED IN mitotic nuclear division (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 17 17 17 p13.2 6368303 6374898 + 6347735 6354385 + 6444415 6451065 + 6480464 12477932;14702039;15489334;16491119;18482256;18757745;19383357;21832049;23419774;8125298 54478 I3L156;I3L2R2;I3L419;I3L427;Q9BSJ6 ABBA01054828;AC055872;AK001018;AK001353;AK225613;AK225702;AMYH02032873;BC005004;BC013966;CH471108;NM_001195228;NM_019013;XM_006721549 AAH05004;AAH13966;BAA91468;BAA91644;EAW90306;EAW90307;EAW90308;EAW90309;NP_001182157;NP_061886;Q9BSJ6;XP_006721612 Hs.592116 1670531;1701620 RH104452;RH15958 CATS;FLJ10156;FLJ10491;RCS1 CALM interacting protein expressed in thymus and spleen;CALM-interactor expressed in thymus and spleen;regulator of chromosome segregation 1;regulator of chromosome segregation protein 1 protein-coding ENSG00000129195 HGNC:25483 07649 VALIDATED 4146227 FAM60CP family with sequence similarity 60, member C pseudogene 18 18 18 q21.32 54402018 54402812 - 57684007 57684801 - 60016775 60017569 - 728115 ABBA01056176;AC090377;AMYH02034844;NG_027872 pseudo HGNC:31737 INFERRED 1605629 FAM57A family with sequence similarity 57, member A FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2-methylcholine; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 17 17 17 p13.3 647932 658167 + 635847 646075 + 732607 742835 + 6480464 1227012;12270127;12477932;12621583;14702039;15489334;16143812;20024628;21906983;23535732;23602568 79850 I3L0N4;I3L183;I3L336;I3L374;Q8TBR7 ABBA01054619;AC087392;AF477201;AK025935;AK125146;AK292065;AMYH02032721;BC009729;BC026023;CH471108;NM_024792 AAH09729;AAH26023;AAM90843;BAB15286;BAF84754;BAG54156;EAW90655;EAW90656;EAW90657;NP_079068;Q8TBR7 Hs.154396 1697662;1852136 G31063;RH102346 CT120;FLJ22282 membrane protein expressed in epithelial-like lung adenocarcinoma protein-coding ENSG00000167695 HGNC:29646 13096 611627 PROVISIONAL 1606508 FAM65A family with sequence similarity 65, member A FOUND IN extracellular vesicular exosome; cytoplasm (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 5-aza-2'-deoxycytidine 16 16 16 q22.1 52070951 52088932 + 67562717 67580691 + 67528814 67546788 + 6480464 11572484;12477932;14702039;15146197;15302935;18029348;19056867;21139048;21900206;22863883 79567 H3BMG9;H3BP86;H3BQI5;H3BS40;H3BSV5;H3BSX9;H3BU12;H3BUP6;H3BV02;Q6ZS17 AB067517;ABBA01025441;AC027682;AK023787;AK097087;AK127792;AK293748;AK295677;AK302868;AK307467;AL834312;AMYH02032234;BC001850;BC054512;BC098587;CH471092;CN401995;DC310605;DC422629;HI573872;NM_001193522;NM_001193523;NM_001193524;NM_024519;XM_006721269;XM_006721270 AAH01850;AAH54512;AAH98587;AAI56640;BAB14678;BAB67823;BAC87139;BAG57170;BAG58534;BAG64050;CAD38982;CBX47425;EAW83138;EAW83139;EAW83140;EAW83141;NP_001180451;NP_001180452;NP_001180453;NP_078795;Q6ZS17;XP_006721332;XP_006721333 Hs.152717 1654725;1698834 RH102981;STS-AA040937 FLJ13725;KIAA1930 OTTHUMP00000174838;OTTHUMP00000174839;OTTHUMP00000174840;hypothetical protein LOC79567 protein-coding ENSG00000039523 HGNC:25836 08586 VALIDATED 1604257 FAM58A family with sequence similarity 58, member A Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] X X X q28 153087076 153098328 - 152853383 152864632 - 153587925 153599177 - 6480464;7240710;8554872 11076863;12477932;15489336;16381901;17213182;18297069;21988832;22961080;24218572;24250222 92002 H7C1X6;H7C3N1;K7EM37;Q8N1B3 ABBA01045382;ABBA01045383;AF274858;AL549300;AMYH02040837;AY445048;BC001909;BC007232;BC032121;BC071851;BG766429;CH471172;DQ323993;DT217835;FQ908264;NG_008393;NM_001130997;NM_152274;XM_005277920;XM_005277921 AAH01909;AAH07232;AAH32121;AAH71851;AAS20614;ABC88595;CAL38542;EAW72851;EAW72852;EAW72853;EAW72854;EAW72855;EAW72856;EAW72857;NP_001124469;NP_689487;Q8N1B3;XP_005277977;XP_005277978 Hs.496943 2144252;5024219;5107759 G04051;RH48051;RH78287 MGC29729;STAR CDK10-activating cyclin;OTTHUMP00000025931;OTTHUMP00000025932;OTTHUMP00000025936;OTTHUMP00000025937;OTTHUMP00000025938;cyclin M;cyclin-M;cyclin-related protein FAM58A APPROVED protein-coding ENSG00000262919 HGNC:28434 06645 300707;300708 REVIEWED 1607025 FAM63B family with sequence similarity 63, member B INTERACTS WITH pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 15 15 15 q21.3 35951332 36037699 + 59063393 59149754 + 58771194 58857555 + 6480464 10574461;12477932;14702039;16344560;21139048;21890473;21906983;21915095 54629 H0YM15;J3KNL7;Q8NBR6 AB032990;AB075509;ABBA01038977;ABBA01038978;ABBA01038979;ABBA01038980;ABBA01038981;ABBA01038982;ABBA01038983;AC090515;AK022891;AK075319;AK297291;AL049226;AL833610;AMYH02030532;AMYH02030533;AMYH02030534;AMYH02030535;BC035563;BC060514;BC140811;BC144616;CH471082;DA248971;DB523031;NM_001040450;NM_001040453 AAI40812;AAI44617;BAA86478;BAC11545;BAE45756;BAG59761;EAW77544;EAW77545;EAW77546;EAW77547;EAW77548;NP_001035540;NP_001035543;Q8NBR6 Hs.591122 1341295;1791290;2121585;5015961;5022578;5037552 D15S1477;D15S964;D1S1423;D8S2279;MARC_9996-9997:996688749:1;RH78819 KIAA1164 hypothetical protein LOC54629 protein-coding ENSG00000128923 HGNC:26954 13835 VALIDATED 5489137 FAM60DP family with sequence similarity 60, member D pseudogene 8 8 8 p21.2 22455831 22456468 - 23492380 23493020 - 23634867 23635507 - 646721 ABBA01005546;AC051642;AMYH02017621;NG_022381 1686196;1755541;1765275;1775282;1777339 D8S1077;RH80368;SHGC-142393;SHGC-148775;STS-R98014 pseudo HGNC:19896 INFERRED 1603985 FAM63A family with sequence similarity 63, member A FOUND IN extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; cyclosporin A; formaldehyde 1 1 1 q21.3 124084996 124096549 - 150969213 150980854 - 150996737 151008378 - 6480464 10718198;12477932;14702039;15231747;16344560;17207965;20383146;21139048;21890473;21906983;23000965;23585552 55793 D3DV11;H0YJH5;Q8N5J2 AB037811;ABBA01049365;AK002142;AK125493;AK125959;AK301946;AK303962;AL590133;AMYH02001869;AW072847;BC014447;BC032321;BC075812;CH471121;DA016747;DA292825;DA677196;DB023382;NM_001040217;NM_001163258;NM_001163259;NM_001163260;NM_018379;XM_005245320;XM_005245321;XM_005245322;XM_005245323;XM_005245325;XM_005245327;XM_005245328;XM_006711446;XM_006711447;XM_006711448 AAH32321;ADQ31746;BAA92104;BAA92628;BAG54206;BAG54270;BAG63364;BAG64886;EAW53491;EAW53492;EAW53493;EAW53494;EAW53495;NP_001035307;NP_001156730;NP_001156731;NP_001156732;NP_060849;Q8N5J2;XP_005245377;XP_005245378;XP_005245379;XP_005245380;XP_005245382;XP_005245384;XP_005245385;XP_006711509;XP_006711510;XP_006711511 Hs.743952 1682549;1768131;2217016;5015861;5015881;5015961;5020948;5022200;5022322;5022450;5022576;5022588;5022651;5037552;5125846;7185938 ANXA9_2947;D10S16;D10S275;D11S2560;D11S2921;D15S1477;D1S1361;D5S1597E;D8S2279;G35510;GDB:335751;L18426;RH98597;SHGC-107;WI-15024 FLJ11280;FLJ43504;RP11-316M1.5 OTTHUMP00000033018;OTTHUMP00000033019;OTTHUMP00000245144;OTTHUMP00000245145;OTTHUMP00000245146;hypothetical protein LOC55793 protein-coding ENSG00000143409 HGNC:25648 07746 VALIDATED 2303336 FAM66A family with sequence similarity 66, member A 8 8 8 p23.1 11104785 11111078 + 12219528 12268510 + 12362019 12411001 + 11181995;16344560 100133172 ABBA01026873;AC087203;AC243920;AK311040;CH471157;DC372067;LN608199;NR_026789 EAW65640 Hs.721640 FLJ18082 ncrna HGNC:30444 PREDICTED 1602394 FAM66C family with sequence similarity 66, member C INTERACTS WITH 5-aza-2'-deoxycytidine 12 12 p13.31 8332805 8353596 + 8180209 8201000 + 6480464 12477932;14702039 440078 ABBA01012238;AC092111;AK096301;AMYH02025988;BC034777;BC048994;HG504468;HG504469;HG504470;HG504471;HG504473;NR_026788 Hs.512257 5022578 D1S1423 ncrna ENSG00000226711 HGNC:21644 PREDICTED 2303483 FAM66D family with sequence similarity 66, member D ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 8 8 p23.1 11973291 12008698 + 12115782 12151189 + 6480464;8554872 100132923 ABBA01150378;AC130366;AC145124;AK294595;AL390183;AMYH02017358;AMYH02017359;AMYH02017360;AMYH02017361;AMYH02017362;AMYH02017363;AMYH02017364;AMYH02017365;AMYH02017366;AMYH02017367;NR_027425;XR_426507 BAG57783 Hs.546711 FLJ56781 ncrna HGNC:24159 PREDICTED 1313101 FAM65C family with sequence similarity 65, member C ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; benzo[a]pyrene 20 20 20 q13.13 45906933 45957690 - 49202645 49308277 - 50586108 50692004 - 6480464;8554872 11780052;12107410;14702039;15146197;15197164;20877624 140876 B7Z3F0;B7Z5S0;Q96MK2 ABBA01052781;AI056877;AK056792;AK090440;AK295781;AK299337;AL133230;AL353653;AL732057;AMYH02037237;AV703941;BM846795;BQ446237;BX111440;CA389799;CD558804;CF272670;CH471077;CN268262;DC365439;DC391298;DC400584;DT932687;HY221639;HY285972;NG_034040;NM_001290268;NM_080829;NR_110890;XM_005260294;XM_006723713;XR_430294;XR_430295 AAI60013;BAB71286;BAC03421;BAH12186;BAH13006;EAW75618;EAW75619;EAW75620;EAW75621;EAW75622;NP_001277197;NP_543019;Q96MK2;XP_005260351;XP_006723776 Hs.372578 1652082;1850380;5015861;5015961;5016478;5020948;5021369;5022322;5022578;5037552;7185938 D10S16;D11S2560;D15S1477;D1S1423;D8S2279;G27961;G35510;GDB:434012;L17796;RH16244 C20orf175;C20orf176;FLJ00360;FLJ32230;dJ530I15.2;dJ530I15.3 OTTHUMP00000165079;hypothetical protein LOC140876 protein-coding ENSG00000042062 HGNC:16168 12757 VALIDATED 3398788 FAM66B family with sequence similarity 66, member B 4 8 8 p23.1 18869 20865 + 7159133 7212876 - 7301611 7355354 - 14702039 100128890 ABBA01134830;AC130360;AC243982;AF228730;AF252830;AK302471;HG500841;NR_027423 BAG63761 Hs.694680 FAM66E;FLJ53539;RP11-1195F20.2 ncrna ENSG00000215374 HGNC:28890 VALIDATED 1353681 FAM69C family with sequence similarity 69, member C This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011] 18 18 18 q22.3 68970325 68991868 - 72102963 72125070 - 74435728 74457835 - 6480464 12477932;20379614;21334309 125704 Q0P6D2 ABBA01056325;AC009704;AI375747;AMYH02034993;BC019628;NM_001044369;XM_005266647 AAH19628;NP_001037834;Q0P6D2;XP_005266704 Hs.371690 1731709 D18S515 C18orf51 OTTHUMP00000211239;hypothetical protein LOC125704 APPROVED protein-coding HGNC:31729 614544 VALIDATED 1606700 FAM71A family with sequence similarity 71, member A ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH cadmium dichloride (ortholog); cefaloridine (ortholog); dioxygen (ortholog) 1 1 1 q32.3 186023850 186026181 + 212797789 212800120 + 212624447 212626778 + 6480464;8554872 12477932;14702039;15489334;16344560;16710414 149647 B2RCB4;B3KQ44;B4DXH7;Q8IYT1 ABBA01048167;AK057358;AK301981;AK315021;AL590648;AMYH02002645;BC035007;CH471100;DB031502;DB509538;NM_153606 AAH35007;BAG37511;BAG51906;BAG63389;EAW93382;NP_705834;Q8IYT1 Hs.129293 FLJ32796;RP11-338C15.4 OTTHUMP00000038596;hypothetical protein LOC149647 protein-coding ENSG00000162771 HGNC:26541 08735 VALIDATED 1606142 FAM71B family with sequence similarity 71, member B ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene; cadmium dichloride (ortholog); cefaloridine (ortholog) 5 5 5 q33.3 152615874 152619810 - 156589343 156593279 - 157162332 157166268 - 6480464;8554872 12477932;14702039;18029348 153745 Q8TC56;Q8TEW9 ABBA01044273;AC010609;AF465821;AK057543;AMYH02012548;AY973323;BC022035;BC025397;BC025409;BC025998;CH471062;NM_130899 AAH22035;AAH25397;AAH25409;AAH25998;AAL77003;AAY41236;ADZ15657;BAB71526;EAW61609;NP_570969;Q8TC56 Hs.666099 MGC26988 Golgi-associated Rab2B interactor-like 3;OTTHUMP00000160738 protein-coding ENSG00000170613 HGNC:28397 14516 VALIDATED 1605163 FAM66E family with sequence similarity 66, member E 8 8 p23.1 7812535 7866277 + 7955013 8008755 + 14702039 100132103 P0C841 ABBA01001664;AC105233;AC130365;AMYH02017358;AMYH02017359;AMYH02017360;AMYH02017361;AMYH02017362;AMYH02017363;AMYH02017364;AMYH02017365;AMYH02017366;AMYH02017367;AMYH02017368;AMYH02017369;AMYH02017370;AMYH02017371;AMYH02017372;HG500843;NR_027424 P0C841 Hs.694680 ncrna ENSG00000225725 HGNC:18735 PREDICTED 1603475 FAM69A family with sequence similarity 69, member A This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 1 1 1 p22.1 91561313 91696457 - 93298286 93427079 - 92832729 92961522 - 6480464;8554872 12477932;15489334;16344560;16710414;17207965;17660530;19506219;19525955;19834503;20087403;20881960;20889312;21334309 388650 Q5T7M9 ABBA01045531;AC093577;AK027146;AK303700;AL162740;AL449283;AL536469;AL702320;AMYH02001489;AMYH02001490;AMYH02001491;AMYH02001492;BC070342;BF979329;CH471097;DA141589;DA155419;DA348631;DA736826;DB199113;DB475309;DB498496;NG_033051;NM_001006605;NM_001252269;NM_001252270;NM_001252271;NM_001252273 AAH70342;ADQ32038;BAG64686;EAW73086;NP_001006606;NP_001239198;NP_001239199;NP_001239200;NP_001239202;Q5T7M9 Hs.180946 1336230;1699320;1760605;1848444;2123613;2156327;2156329 A005R15;D1S2576;D1S2868;G20435;RH103247;SHGC-144158;SHGC-75143 FLJ23493 OTTHUMP00000012580 APPROVED protein-coding ENSG00000154511 HGNC:32213 14204 614542 REVIEWED 8548690 FAM71BP1 family with sequence similarity 71, member B pseudogene 1 9 9 9 25864952 25865478 + 25937909 25938435 + 25937911 25938437 + 100421478 ABBA01065141;AL353753;AMYH02019326;NG_023885 pseudo HGNC:49805 INFERRED 1315839 FAM65B family with sequence similarity 65, member B The protein encoded by this gene stimulates the formation of a non-mitotic multinucleate syncytium from proliferative cytotrophoblasts during trophoblast differentiation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2013] 6 6 6 p22.3-p21.32 26037884 26138491 - 24804512 24936275 - 24804281 25042287 - 6480464;8554872 12369935;12477932;16344560;17150207;17825087;20936779;21190562;21988832;22554406;24687993;24816145;24958875;9055809;9205841;9786461 9750 B7Z5J9;B7Z6D6;B7Z6U4;F5GX51;F5H029;H3BP45;Q9Y4F9 AA760782;AB002384;ABBA01066538;ABBA01066539;ABBA01066540;ABBA01066541;AK299047;AK300138;AK300950;AL078584;AL133268;AL160400;AL512428;AMYH02013330;AMYH02013331;AMYH02013332;AMYH02013333;AMYH02013334;AMYH02013335;BC000930;BC001232;CH471087;CN313643;DA024828;DA258515;DA675350;DC406827;DC428807;NM_001286445;NM_001286446;NM_001286447;NM_014722;NM_015864;U49187;XM_006715275;XM_006715276;XM_006715277;XM_006715278;XM_006715279;XM_006715280;XM_006715281 AAC51134;AAH01232;BAA20840;BAH12935;BAH13222;BAH13380;EAW55467;EAW55468;EAW55469;EAW55470;EAW55471;EAW55472;NP_001273374;NP_001273375;NP_001273376;NP_055537;NP_056948;Q9Y4F9;XP_006715338;XP_006715339;XP_006715340;XP_006715341;XP_006715342;XP_006715343;XP_006715344 Hs.559459 1336036;1690450;1792874;2132780;2189697;5022578 D1S1423;D6S1554;D6S2235;PMC166143P9;RH93877;STS-U49187 C6orf32;DIFF40;DIFF48;KIAA0386;PL48 MYONAP;OTTHUMP00000016104;OTTHUMP00000016105;hypothetical protein LOC9750;myogenesis-related and NCAM-associated protein homolog APPROVED protein-coding ENSG00000111913 HGNC:13872 12881 611410 VALIDATED 1349970 FAM6A family with sequence similarity 6, member A 11352565 282696 AF307337 HGNC:14020 1602652 FAM69B family with sequence similarity 69, member B This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011] 9 9 9 q34.3 110120381 110132293 + 139607024 139619170 + 136712572 136724718 + 6480464 12477932;16169070;21145461;21334309 138311 Q5VUD6 ABBA01022718;ABBA01022719;AF318355;AJ420457;AL355987;AL590226;AMYH02021909;BC032097;BG700129;CH471090;NM_152421;XM_006716954 AAH32097;AAL55862;EAW88253;EAW88254;NP_689634;Q5VUD6;XP_006717017 Hs.741305 1664573;1685684;1787132;2121221;2155466;2177585 RH66592;RH73;RH93915;SHGC-155365;STS-W68702;WI-18241 C9orf136;MGC20262;pp6977 OTTHUMP00000022600;hypothetical protein LOC138311 APPROVED protein-coding ENSG00000165716 HGNC:28290 14468 614543 VALIDATED 1604702 FAM71F2 family with sequence similarity 71, member F2 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); C60 fullerene (ortholog); potassium dichromate (ortholog) 7 7 7 q32.1 123108100 123119125 + 128311743 128328949 + 128672266 128683321 + 6480464 12477932;12690205;17672918 346653 C9K0C0;Q6NXP2 ABBA01057659;AC018638;AC093183;AMYH02016716;AMYH02016717;BC047310;BC066973;BC105729;BC105730;BC105731;BI828876;BX116495;CH236950;CH471070;HY039605;HY046252;NG_034049;NM_001012454;NM_001128926;NM_001290254;NM_001290255;XM_006715964 AAH47310;AAH66973;AAI05730;AAI05731;AAI05732;EAL24114;EAW83666;NP_001012457;NP_001122398;NP_001277183;NP_001277184;Q6NXP2;XP_006716027 Hs.445236 1691242;2123285;5107565 D7S2965;RH99249;SHGC-56811 FAM137B OTTHUMP00000212716;OTTHUMP00000212717;OTTHUMP00000212718;OTTHUMP00000212719;family with sequence similarity 137, member B;hypothetical protein LOC346653 protein-coding HGNC:27998 17840 VALIDATED 1604551 FAM71E1 family with sequence similarity 71, member E1 INTERACTS WITH aflatoxin B1; atrazine; perfluorooctanoic acid 19 19 19 q13.33 48020207 48030144 - 50970045 50980085 - 50466788 50476826 - 6480464 12477932;24250222 112703 B3KWT0;Q6IPT2 ABBA01068319;ABBA01068320;ABBA01068321;AC020909;AK125745;AK131032;AMYH02036352;BC004941;BC012203;BC071737;CH471135;NM_138411;XM_005258472 AAH04941;AAH12203;AAH71737;BAG54242;EAW71867;EAW71868;EAW71869;EAW71870;NP_612420;Q6IPT2;XP_005258529 Hs.448941 5016783 RH98508 FLJ27522;FLJ43757 hypothetical protein LOC112703 protein-coding ENSG00000142530 HGNC:25107 18718 PREDICTED 1626688 FAM72A family with sequence similarity 72, member A FOUND IN mitochondrion (inferred); INTERACTS WITH lucanthone; aflatoxin B1 (ortholog); dibutyl phthalate (ortholog) 1 1 1 q32.1 820 3431 + 206138911 206155074 + 206186182 206203045 - 6480464 12477932;15252450;15489334;16710414;18676834;19755123;21317926;22505724;23900679;25234718 729533 Q5TYM5;Q5TYM6;U3KPW2;U3KQ03;U3KQM2 AC244035;BC035696;BC137545;BC146978;BC146992;CR407567;DQ786198;NM_001123168;XM_006711526 AAH35696;AAI37546;AAI46979;AAI46993;CAH72364;CAH72365;CAH72366;NP_001116640;Q5TYM5;XP_006711589 Hs.661924 5113589 RH25908 LMPIP;MGC169168;MGC182081;MGC182095;MGC46651;MGC57827;RP11-312O7.1 LMP1-induced protein;OTTHUMP00000039535;OTTHUMP00000039536;OTTHUMP00000039537;Ugene;hypothetical protein LOC729533;latent membrane protein 1-induced protein protein-coding HGNC:24044 614710 PREDICTED 1625813 FAM72B family with sequence similarity 72, member B INTERACTS WITH benzo[a]pyrene diol epoxide I; aflatoxin B1 (ortholog); dibutyl phthalate (ortholog) 1 1 1 p11.2 386 3431 + 120838959 120855681 + 121167646 121184569 - 6480464 12477932;19755123;22505724 653820 Q5QP12;Q86X60 AC244453;AL357493;BC046199;BC137546;NM_001100910;XM_006710841 AAH46199;AAI37547;CAI14136;CAI14137;CAI14138;CAI14139;NP_001094380;Q86X60;XP_006710904 Hs.339665 5113589 RH25908 RP11-439A17.6;p17 OTTHUMP00000038570;OTTHUMP00000038571;OTTHUMP00000038572;OTTHUMP00000038573;amyloid-beta peptide-induced protein p17;hypothetical protein LOC653820 protein-coding ENSG00000188610 HGNC:24805 614711 PROVISIONAL 1626691 FAM72D family with sequence similarity 72, member D INTERACTS WITH (+)-catechin; 2-methylcholine; cadmium atom 1 1 1 q21.1 366 3435 + 143896452 143913143 - 145096000 145112692 + 6480464 12477932;19322201;22505724 728833 Q6L9T8 AB096683;ABBA01169368;AC242498;AK307197;AL109844;CR589924;NM_207418 BAD20788;CAM28367;CAM28368;CAM28369;NP_997301;Q6L9T8 Hs.535577 5113589 RH25908 FLJ97145;GCUD2;MGC182081;MGC182095;MGC57827 OTTHUMP00000083523;family with sequence similarity 72 member;gastric cancer up-regulated protein 2;gastric cancer up-regulated-2;hypothetical protein LOC653573;hypothetical protein LOC728833 protein-coding ENSG00000215784 HGNC:33593 614712 PREDICTED 1606688 FAM71C family with sequence similarity 71, member C ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH cadmium dichloride (ortholog); cefaloridine (ortholog); dioxygen (ortholog) 12 12 12 q23.1 99707381 99709673 + 100041528 100043892 + 99647750 99650114 + 6480464;8554872 12477932;15489334;16189514;16344560;17207965;21988832 196472 Q8NEG0 AA401734;ABBA01053273;AC141554;AK312767;AMYH02027048;AW181907;BC031221;CH471054;DB055853;DB514813;HC006952;HC044745;NG_029860;NM_153364 AAH31221;ADQ31621;BAG35633;CBH19281;CBH30702;EAW97617;NP_699195;Q8NEG0 Hs.591011 MGC39520 OTTHUMP00000243473;hypothetical protein LOC196472 protein-coding ENSG00000180219 HGNC:28594 17539 VALIDATED 1348410 FAM71E2 family with sequence similarity 71, member E2 INTERACTS WITH potassium dichromate (ortholog) 19 19 19 q13.42 52907242 52915424 - 55866276 55874620 - 55354908 55363252 - 6480464 12477932;15174051;19913121;20628086 284418 K7EMA1;Q8N5Q1 ABBA01068103;ABBA01068104;ABBA01068105;AC020922;AK127979;AL834316;AMYH02036461;AMYH02036462;BC031875;KF573705;NM_001145402 AAH31875;CAD38986;NP_001138874;Q8N5Q1 Hs.528319 C19orf16;DKFZp434G1729;MGC35045 hypothetical protein LOC284418;putative protein FAM71E2;uncharacterized protein LOC284418 protein-coding ENSG00000180043 HGNC:25278 PREDICTED 2303471 FAM74A1 family with sequence similarity 74, member A1 FOUND IN integral component of membrane (inferred) 9 9 p13.1 39900200 39907240 + 39370919 39372039 + 12477932;15164053;15489334 401507 AMYH02019697;AMYH02019698;AMYH02019699;AMYH02019700;BC118602;BX005214;BX664726;NR_026803 CAI17098;Q5RGS3 Hs.553802 FAM74A5 ncrna ENSG00000215112 HGNC:32029 17394 VALIDATED 1353197 FAM71D family with sequence similarity 71, member D ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus 14 14 14 q23.3 47715205 47754324 + 67656110 67695493 + 67189393 67228776 + 8554872 12477932;14702039;15489334;16344560;18029348 161142 E9PM27;E9PPX0;G3V4K8;H0YJ27;H0YJQ5;H3BMS9;Q8N9W8 ABBA01023718;ABBA01023719;AK093449;AK302154;AL135978;AMYH02029394;AMYH02029395;BC037380;BC050401;CH471061;DB056257;NM_173526;XM_005267372;XM_006720060;XM_006720061 AAH50401;BAC04169;BAG63525;EAW80927;EAW80929;NP_775797;Q8N9W8;XP_005267429;XP_006720123;XP_006720124 Hs.412818;Hs.733286 1793058;2113874 AB070000;PMC193924P1 C14orf54;FLJ36130 OTTHUMP00000233462;OTTHUMP00000233465;chromosome 14 open reading frame 54;hypothetical protein LOC161142 protein-coding ENSG00000172717 HGNC:20101 12653 VALIDATED 1625851 FAM74A3 family with sequence similarity 74, member A3 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cadmium atom 9 9 p13.1 40715524 40722679 + 66970162 66977317 - 6480464;8554872 728495 Q4VXF1 AL353770;AMYH02019766;NR_026801 Q4VXF1 Hs.723007 ncrna HGNC:32031 PREDICTED 2303470 FAM74A4 family with sequence similarity 74, member A4 9 9 q12 65487273 65494386 - 61205260 61212373 + 12477932;14702039;15164053;15489334 401508 Q5TZK3 AK127145;BC121813;BX005040;NR_026802;NR_027461;NR_110998 BAC86850;Q5TZK3 Hs.741141;Hs.742601 FAM74A2;FLJ45202 ncrna ENSG00000274583 HGNC:32032 16982 VALIDATED 1625814 FAM72C family with sequence similarity 72, member C INTERACTS WITH aflatoxin B1 (ortholog); dibutyl phthalate (ortholog); phenobarbital (ortholog) 1 1 q21.2 770777 789436 - 143955364 143972006 - 6480464 554282 H0Y354 ABBA01153460;AC246680;AL109948;NM_001287385 CAI23570;H0Y354;NP_001274314 5113589 RH25908 RP5-998N21.9 protein-coding ENSG00000263513 HGNC:30602 PREDICTED 2298826 FAM74A6 family with sequence similarity 74, member A6 9 9 p12 41515908 41523018 + 60929636 60936746 + 653123 Q5TZK3 AL590491;NR_110999 ncrna HGNC:34036 VALIDATED 2306345 FAM74A2 family with sequence similarity 74, member A2 FOUND IN integral component of membrane (inferred) 9 p12 41305112 41312131 - 15164053;15489334 653114 Q5RGS3 AL596385;AMYH02020611;AMYH02020612;AMYH02020613;NR_027461 CAI95395;Q5RGS3 Hs.742601 FLJ45202 ncrna HGNC:32030 PREDICTED 1349918 FAM75B family with sequence similarity 75, member B INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred) q21.32 404770 Q5VZV4 AL158047;NM_001098807;NM_001164339 CAH73247;NP_001092277;NP_001157811;Q5VZV4 Hs.584122 C9orf36B;bA388B24.2 chromosome 9 open reading frame 36b protein-coding HGNC:31411 2292058 FAM74A5 family with sequence similarity 74, member A5 9 9 p13.1 39370916 39372036 + 39370919 39372039 + 653809 BX005214;NG_009745 pseudo ENSG00000215112 HGNC:34035 INFERRED 1606759 FAM71F1 family with sequence similarity 71, member F1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 5-aza-2'-deoxycytidine; cisplatin 7 7 7 q32.1 123151202 123167550 + 128349115 128371797 + 128709061 128731743 + 6480464;8554872 12477932;14702039;17207965;18317470;23275563 84691 B4DY15;F8WC62;F8WC78;H7C4R1;Q96KD3 ABBA01057656;AC018638;AC024952;AC093183;AF367470;AK093161;AK302221;AK310308;AK310426;AK313608;AMYH02016719;BC032842;BC037248;BC040906;BG723812;CH236950;CH471070;HC007190;HY051242;NM_001282788;NM_001282789;NM_032599;NR_104242;NR_104243;XM_005250645;XM_005250648;XM_005250649;XM_005250653;XM_005250654;XM_006716154;XM_006716155;XM_006716156;XM_006716157;XM_006716158;XM_006716159 AAH37248;AAK53406;ADQ32808;BAC04080;BAG63577;CBH19400;EAW83668;EAW83670;EAW83672;NP_001269717;NP_001269718;NP_115988;Q96KD3;XP_005250702;XP_005250705;XP_005250706;XP_005250710;XP_005250711;XP_006716217;XP_006716218;XP_006716219;XP_006716220;XP_006716221;XP_006716222 Hs.732440 1699696;1750609 RH103453;SHGC-111904 FAM137A;NYD-SP18 OTTHUMP00000212720;OTTHUMP00000212721;family with sequence similarity 137, member A;testes development-related NYD-SP18;testis development protein NYD-SP18 protein-coding ENSG00000135248 HGNC:30704 14861 VALIDATED 2293176 FAM74A7 family with sequence similarity 74, member A7, pseudogene FOUND IN integral component of membrane (inferred) 9 9 p11.2 43614803 43615220 - 42199169 42199586 + 15164053 100996582 A6NL05 AL445584;AMYH02020173;NG_034066;XR_247163;XR_252536 A6NL05 APPROVED pseudo HGNC:34037 INFERRED 1604229 FAM78B family with sequence similarity 78, member B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); cisplatin 1 1 1 q24.1 139144622 139241325 - 166026663 166135992 - 166070019 166166721 - 6480464;8554872 12477932;15489334;16710414;19064610;19536175;21697133 149297 F1T0K0;H7C075;H7C3M6;Q5VT40 AB593134;ABBA01047267;ABBA01047268;AK299946;AL596087;AL626787;AMYH02002073;AMYH02002074;AMYH02002075;BC114214;BF510138;CH471067;NM_001017961 AAI14215;BAH13179;BAJ84074;EAW90771;NP_001017961;Q5VT40 Hs.133029 1341600;2129432 AL009923;D1S2681 MGC131653 OTTHUMP00000032614;OTTHUMP00000209230;OTTHUMP00000209231;OTTHUMP00000209232;hypothetical protein LOC149297 protein-coding ENSG00000188859 HGNC:13495 18557 VALIDATED 1604511 FAM76A family with sequence similarity 76, member A INTERACTS WITH (-)-epigallocatechin 3-gallate; methyl methanesulfonate; paracetamol 1 1 1 p35.3 26448136 26485071 + 28052490 28089426 + 27725979 27762915 + 6480464 12477932;14702039;15489334;16710414;17207965;19322201;24816145 199870 B1AJQ5;E9PQL1;Q8TAV0 ABBA01034985;ABBA01034986;ABBA01034987;ABBA01034988;ABBA01034989;AK098318;AK123940;AK290120;AK301672;AK310165;AL020997;AL035307;AL035309;AMYH02000607;AMYH02000608;AMYH02000609;BC025768;CH471059;NM_001143912;NM_001143913;NM_001143914;NM_001143915;NM_152660 AAH25768;ADQ32458;BAC05285;BAF82809;BAG63145;CAA22912;CAA22914;EAX07740;EAX07741;EAX07742;EAX07743;NP_001137384;NP_001137385;NP_001137386;NP_001137387;NP_689873;Q8TAV0 Hs.469359 1341596;1660914;1690928;2166253 D14S779;RH47146;RH66767;RH93638 FLJ41946;MGC34648;RP3-426I6.1 OTTHUMP00000003840;OTTHUMP00000003841;OTTHUMP00000003842;OTTHUMP00000003843;OTTHUMP00000235222;OTTHUMP00000235223;hypothetical protein LOC199870 protein-coding ENSG00000009780 HGNC:28530 14583 VALIDATED 1347848 FAM7A5 family with sequence similarity 7, member A5 89835 HGNC:15779 1605286 FAM76B family with sequence similarity 76, member B FOUND IN nuclear membrane; nucleus; INTERACTS WITH (-)-demecolcine; 5-fluorouracil; copper atom 11 11 11 q21 92800487 92821336 - 95502106 95522954 - 95768942 95789811 - 6480464 11076863;11230166;12477932;14702039;15302935;15489334;15489336;16189514;16381901;17081983;17203973;18187620;19322201;23455924;23602568;24654937;24816145 143684 B2R9C2;F5GX09;F5H215;F5H5F4;F5H6T9;Q5HYJ3 ABBA01040009;AK021591;AK313727;AMYH02025385;AP001877;AW118814;BC026013;BC028727;BG718983;BX647586;CH471065;NM_144664;XM_005273775;XM_005273776;XM_005273777;XR_247187 AAH26013;AAH28727;ABM82140;ABM85323;BAG36469;CAI46088;CAL37784;EAW66962;EAW66963;EAW66964;NP_653265;Q5HYJ3;XP_005273832;XP_005273833;XP_005273834 Hs.288304 1679083;1700180;1846841 RH103704;RH93242;SGC30630 MGC33371 OTTHUMP00000236682;OTTHUMP00000236683;OTTHUMP00000236684;OTTHUMP00000236685;hypothetical protein LOC143684 protein-coding ENSG00000077458 HGNC:28492 11333 VALIDATED 1345013 FAM7A4 family with sequence similarity 7, member A4 89836 HGNC:15778 1603176 FAM81B family with sequence similarity 81, member B ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH aflatoxin B1; valproic acid; lead diacetate (ortholog) 5 5 5 q15 90605428 90664550 + 94727048 94786145 + 95391344 95450441 + 6480464;8554872 12477932;14702039;15489334;20379614 153643 H0Y8I8;H0Y942;H0Y947;H0Y979;H0Y9A7;H0Y9S5;Q96LP2 ABBA01069252;AC008573;AC090071;AK058062;AK310245;AMYH02011820;BC034772;BM560335;CH471084;KC877040;KF457950;NM_152548;XM_005271905;XM_005271906;XM_005271907;XM_006714558;XM_006714559;XR_246533 AAH34772;ADZ15374;BAB71646;EAW96035;EAW96036;NP_689761;Q96LP2;XP_005271962;XP_005271963;XP_005271964;XP_006714621;XP_006714622 Hs.276287 FLJ25333 OTTHUMP00000222798;hypothetical protein LOC153643 protein-coding ENSG00000153347 HGNC:26335 08686 VALIDATED 1605523 FAM73A family with sequence similarity 73, member A FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 1 1 1 p31.1 76484888 76583132 + 78245309 78345225 + 77779624 77879540 + 6480464 12477932;14702039;19322201 374986 B4DK63;B7ZLZ8;F8W7S1;Q8NAN2;R4GMP2 ABBA01074393;AC114487;AC138392;AK092412;AK296411;AMYH02001304;AMYH02001305;BC130387;BC144167;BX537792;BX641170;CA436207;CH471059;NM_001270384;NM_198549;XM_005270846;XM_005270847;XM_005270848;XM_005270850 AAI30388;AAI44168;BAC03880;BAG59075;CAD97844;CAE46075;EAX06364;NP_001257313;NP_940951;Q8NAN2;XP_005270903;XP_005270904;XP_005270905;XP_005270907 Hs.437755 2152864;2159524;2162265;5015861;5015961;5016851;5022200;5022322;5022651;5037552;5037554;5125976;7185938 5q31-33_35;AL010047;D10S16;D11S2560;D11S2921;D15S1477;D1S3514;D8S2279;D8S2282;G31497;L18426;RH80031 DKFZp686M07166;FLJ35093 OTTHUMP00000011335;hypothetical protein LOC374986 protein-coding ENSG00000180488 HGNC:24741 13415 VALIDATED 1602845 FAM83A family with sequence similarity 83, member A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; arsenite(3-); diazinon 8 8 8 q24.13 120383791 120411357 + 124194752 124222318 + 123179047 123210079 + 6480464;8554872 12477932;14702039;16344560;16354590;17192395;17207965;18514066;22886303 84985 Q86UY5 ABBA01037867;ABBA01037868;ABBA01037869;AC068228;AF497803;AI677966;AK095301;AK098407;AMYH02018703;BC007828;BC052300;BQ927762;CH471060;DA764899;DQ280322;DQ280323;NM_001288587;NM_032899;NM_207006;XM_005251087 AAH07828;AAH52300;AAQ07260;ABB91800;ABB91801;ADQ32933;BAC05299;EAW92022;EAW92023;EAW92024;NP_001275516;NP_116288;NP_996889;Q86UY5;XP_005251144 Hs.379821;Hs.679530 1765723;2142793;2163542;2218312;5015619;5037554 BJ-TSA-9_4449;D11S3114;D8S1160;D8S2282;RH65348;SHGC-149155 BJ-TSA-9;MGC14128 OTTHUMP00000228379;OTTHUMP00000228381;hypothetical protein LOC84985;tumor antigen BJ-TSA-9;tumor-specific gene expressed in prostate protein protein-coding ENSG00000147689 HGNC:28210 17489 VALIDATED 1354321 FAM78A family with sequence similarity 78, member A INTERACTS WITH methyl methanesulfonate; valproic acid; 17beta-estradiol (ortholog) 9 9 9 q34 104672525 104690968 - 134133465 134151906 - 131258078 131276519 - 737633;6480464 12477932 11214971;14702039;15164053;15489334;21890473 286336 Q5JUQ0;Q5JUQ1;Q5JUQ2;Q8N2W3 ABBA01012083;ABBA01012084;AK024434;AK095423;AL157938;AMYH02021784;BC029924;BC037559;BC049388;CH471090;NM_033387 AAH29924;AAH49388;AAI52843;AAI56766;BAB15724;EAW87964;EAW87965;NP_203745;Q5JUQ0 Hs.143878;Hs.704076 1650688;2157309;5022578 D1S1423;D9S2042;RH41948 C9orf59;FLJ00024;RP11-544A12.6 OTTHUMP00000022395;chromosome 9 open reading frame 59;hypothetical protein LOC286336 protein-coding ENSG00000126882 HGNC:25465 12968 VALIDATED 1603268 FAM81A family with sequence similarity 81, member A ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH all-trans-retinoic acid; amiodarone; benzo[a]pyrene 15 15 15 q22.2 36617962 36703328 + 59730372 59815751 + 59402276 59523552 + 6480464;8554872 12477932;15489334;20889312;21890473;22589738 145773 H0YKL6;H0YKQ6;H0YKW2;H0YLQ5;H0YMF2;H0YMX7;H0YN47;H0YN94;Q8TBF8 ABBA01038961;ABBA01038962;AC091748;AC092754;AC092868;AK299220;AK307975;AL110257;AMYH02030544;BC022537;CH471082;NM_152450;XM_005254166;XM_006720398;XM_006720399 AAH22537;BAG61256;EAW77569;EAW77570;NP_689663;Q8TBF8;XP_005254223;XP_006720461;XP_006720462 Hs.531168 1650839;1669369;1717899;1769555;2116905;7184679;7186986 D15S1308;D15S138E;RH122823;RH44776;WI-20454 MGC26690 hypothetical protein LOC145773 protein-coding ENSG00000157470 HGNC:28379 14508 VALIDATED 1353114 FAM7B1 family with sequence similarity 7, member B1 89834 HGNC:15780 1344332 FAM83C-AS1 FAM83C antisense RNA 1 20 q11.22 35285251 35285772 + 140846 ABBA01019165;AI214830;AL121753;AMYH02036997;CB529226;NG_023238;NR_109815 Hs.554917 C20orf120;NCRNA00154;dJ614O4.3 APPROVED ncrna ENSG00000235214 HGNC:16113 VALIDATED 1322047 FAM73B family with sequence similarity 73, member B INVOLVED IN bone development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 9 9 9 q34.11 102451566 102486648 + 131798899 131834361 + 129036620 129072082 + 6480464;8554872 12477932;14702039;16303743;24250222 84895 B0QZG3;H7C474;Q7L4E1 ABBA01043914;AJ420465;AK027502;AK054974;AK074127;AK075421;AK301241;AK303036;AL592211;AMYH02021730;BC009114;CH471090;NM_032809;XM_005252282;XR_428541 AAH09114;BAB55159;BAB70835;BAB84953;BAC11611;BAG62810;BAG64160;EAW87861;EAW87862;EAW87863;EAW87864;EAW87865;EAW87866;NP_116198;Q7L4E1;XP_005252339 Hs.632693 1729900;1735854;1801218;1801604;1803290;1804314;1806724;1806986;1807718;1809922;1810294;1811490;1812686;1813574;1817702;1821016;1823212;1824600;1827696;1831064;1836264;1836606;1842674;1843232;1845180;1845418;1931082;1931084;1931086;1931088;1931090;1931092;1931094;1931096;1931098;1931100;1931102;1931104;1931106;1931108;1931110;1931112;1931114;1931116;1931118;1931120;1931122;1931124;1931126;1931128;1931130;1931132;1931134;1931136;1931138;1931140;1931142;1931144;1931146;1931148;1931150;1931152;1931154;1931156;1931158;1931160;1931162;1931164;1931166;1931168;1931170;1931172;1931174;1931176;1931178;1931180;1931182;1931184;1931186;1931188;1931190;1931192;1931194;1931196;1931198;1931200;1931202;1931204;1931206;1931208;1931210;1931212;1931214;1931216;1931218;1931220;1931222;1931224;1931226;1931228;1931230;1931232;1931234;1931236;1931238;1931240;1931242;1931244;1931246;1931248;1931250;1931252;1931254;1931256;1931258;1931260;1931262;1931264;1931266;1931268;1931270;1931272;1931274;1931276;1931278;1931280;1931282;1931284;1931286;1931288;1931290;1931292;1931294;1931296;1931298;2169491;2208184;2208186;2208188;2208190;2208192;2208194;2208196;2208198;2208200;2208202;2208204;2208206;2208208;2208210;2208212;2208214;2208216;2208218;2208220;2208222;2208224;2208226;2208228;2208230;2208232;2208234;5491717 A008L12;D9S121;D9S986E;ECD01481;ECD01680;ECD02541;ECD03081;ECD04319;ECD04458;ECD04832;ECD05953;ECD06139;ECD06745;ECD07354;ECD07810;ECD09903;ECD11584;ECD12695;ECD13398;ECD14969;ECD16668;ECD19293;ECD19467;ECD22544;ECD22824;ECD23807;ECD23926;REN36370;REN36371;REN36372;REN36373;REN36374;REN36375;REN36376;REN36377;REN36378;REN36379;REN36380;REN36381;REN36382;REN36383;REN36384;REN36385;REN36386;REN36387;REN36388;REN36389;REN36390;REN36391;REN36392;REN36393;REN36394;REN36395;REN36396;REN36397;REN36398;REN36399;REN36400;REN36401;REN36402;REN36403;REN36404;REN36405;REN36406;REN36407;REN36408;REN36409;REN36410;REN36411;REN36412;REN36413;REN36414;REN36415;REN36416;REN36417;REN36418;REN36419;REN36420;REN36421;REN36422;REN36423;REN36424;REN36425;REN36426;REN36427;REN36428;REN36429;REN36430;REN36431;REN36432;REN36433;REN36434;REN36435;REN36436;REN36437;REN36438;REN36439;REN36440;REN36441;REN36442;REN36443;REN36444;REN36445;REN36446;REN36447;REN36448;REN36449;REN36450;REN36451;REN36452;REN36453;REN36454;REN36455;REN36456;REN36457;REN36458;REN36459;REN36460;REN36461;REN36462;REN36463;REN36464;REN36465;REN36466;REN36467;REN36468;REN36469;REN36470;REN36471;REN36472;REN36473;REN36474;REN36475;REN36476;REN36477;REN36478;RH125103;stSG628145;stSG628146;stSG628147;stSG628149;stSG628150;stSG628151;stSG628152;stSG628153;stSG628155;stSG628156;stSG628157;stSG628158;stSG628159;stSG628160;stSG628161;stSG628162;stSG628163;stSG628164;stSG628165;stSG628166;stSG628167;stSG628168;stSG628169;stSG628170;stSG628171;stSG628172 C9orf54;FLJ00199;FLJ14596 OTTHUMP00000022323;hypothetical protein LOC84895 protein-coding ENSG00000148343 HGNC:23621 12965 PREDICTED 1323733 FAM83B family with sequence similarity 83, member B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 17beta-estradiol; afimoxifene; calcitriol 6 6 6 p12.1 56373131 56468364 + 54711569 54809897 + 54846687 54945099 + 6480464;8554872 12477932;14702039;20360068;20379614;22082156;22886302;23455922;23676467;23912460;24255178 222584 Q5T0W9 ABBA01050510;ABBA01050511;AK024927;AK055204;AL049555;AL512363;AMYH02013763;AMYH02013764;AMYH02013765;BC101628;BC112275;CH471081;HG499301;KF458169;NM_001010872;XM_006715022 AAI01629;AAI12276;BAB70873;EAX04439;NP_001010872;Q5T0W9;XP_006715085 Hs.152423 1646069;1694220;1771693;5020242 AFMa124wh1;AL035202;D11S2612;G09693 C6orf143;FLJ30642;MGC126677;MGC138480;RP3-523K23.2 OTTHUMP00000016645;chromosome 6 open reading frame 143;hypothetical protein LOC222584 protein-coding HGNC:21357 10158 VALIDATED 1606549 FAM83E family with sequence similarity 83, member E ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH calcitriol; copper(2+) sulfate; testosterone 19 19 19 q13.33 45968730 45981559 - 49103857 49118098 - 48600600 48614841 - 6480464;8554872 12477932;15851553;19913121;20628086;21926972 54854 M0QZ37;Q2M2I3 ABBA01032981;ABBA01032982;AC008403;AC022154;AK000207;AMYH02036303;AMYH02036304;AMYH02036305;BC111970;BC111972;CD722642;CH471177;NM_017708;XM_005259019 AAI11971;AAI11973;BAA91009;EAW52356;NP_060178;Q2M2I3;XP_005259076 Hs.165803 1764263;5022200 L18426;SHGC-147884 FLJ20200;MGC138175;MGC138177 hypothetical protein LOC54854 protein-coding ENSG00000105523 HGNC:25972 07883 VALIDATED 1344185 FAM83C family with sequence similarity 83, member C ASSOCIATED WITH Melanoma (inferred) 20 20 20 q11.22 30622139 30628832 - 33873534 33880225 - 35285731 35292422 - 8554872 11780052;12477932;14702039;15174051;16344560;22505724 128876 Q9BQN1 ABBA01019165;AK091116;AK091138;AL121753;AMYH02036997;BC113483;CH471077;DA433905;NM_178468 AAI13484;BAC03594;EAW76218;NP_848563;Q9BQN1 Hs.592149 1801560;1802586;1804266;1811128;1815594;1820328;1828422;1831404;1841960;1844670;1972468;1972470;1972472;1972474;1972476;1972478;1972480;1972482;1972484;1972486;1972488;1972490;1972492;1972494;1972496;1972498;1972500;1972502;1972504;1972506;1972508;1972510;1972512;1972514;1972516;1972518;1972520;1972522;1972524;1972526;1972528;1972530;1972532;1972534;1972536;1972538;1972540;1972542;1972544;1972546;1972548;2215044;2215046;2215048;2215050;2215052;2215054;2215056 ECD01658;ECD02180;ECD03057;ECD06562;ECD08834;ECD11239;ECD15337;ECD16838;ECD22183;ECD23549;REN57119;REN57120;REN57121;REN57122;REN57123;REN57124;REN57125;REN57126;REN57127;REN57128;REN57129;REN57130;REN57131;REN57132;REN57133;REN57134;REN57135;REN57136;REN57137;REN57138;REN57139;REN57140;REN57141;REN57142;REN57143;REN57144;REN57145;REN57146;REN57147;REN57148;REN57149;REN57150;REN57151;REN57152;REN57153;REN57154;REN57155;REN57156;REN57157;REN57158;REN57159;stSG636507;stSG636508;stSG636509;stSG636510;stSG636511;stSG636512;stSG636513 C20orf128;MGC142043;dJ614O4.7 OTTHUMP00000030740;chromosome 20 open reading frame 128;hypothetical protein LOC128876 protein-coding ENSG00000125998 HGNC:16121 12743 VALIDATED 1606850 FAM83G family with sequence similarity 83, member G INVOLVED IN BMP signaling pathway; FOUND IN cytosol; nucleus; INTERACTS WITH 17beta-estradiol; paracetamol; furan (ortholog) 17 17 17 p11.2 20788727 20822409 - 18874381 18908060 - 18971068 19004747 - 6480464 12477932;14702039;15146197;15489334;16625196;16964243;17353931;18729074;19531213;23455922;24554596;8889548 644815 A6ND36;K7EKG0 ABBA01013330;AC090286;AK123558;AMYH02033132;BC105988;BX365956;BX402942;CF138357;CN370352;CR735308;CX165458;DN831927;DY655105;NM_001039999 A6ND36;AAI05989;BAC85645;NP_001035088 Hs.710727 1729861 D17S737 FLJ41564;PAWS1 OTTHUMP00000161200;hypothetical protein LOC644815;protein associated with SMAD1 protein-coding ENSG00000188522 HGNC:32554 615886 VALIDATED 7245901 FAM83A-AS1 FAM83A antisense RNA 1 8 8 8 q24.13 120402451 120404022 - 124213412 124214983 - 123201172 123202743 - 100131726 ABBA01037868;AC068228;AMYH02018703;AY211906;AY211907;AY211908;AY225521;HG501633;HG501634;HG501635;NR_024479 AAP57214;AAP59410;AAP59411;AAP59412 Hs.660862 HCCC11;HCCC11_v1;HCCC11_v2;RP11-539E17.4 ncrna ENSG00000204949 HGNC:48658 VALIDATED 1603342 FAM83H family with sequence similarity 83, member H The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010] 8 8 8 q24.3 141117065 141123831 - 144806103 144822710 - 143723933 143740547 - 6480464;7240710;8554872;8699517 12477932;15146197;16751776;18252228;18484629;19220331;19322201;19407157;19825039;19828885;19875381;20160442;20360068;21118793;21145461;21702852;21906983;21963094;22414746;22797925;23355523;23455922;23902688;25036637;8889548 286077 J3KPS2;Q6ZRV2;Q71RB4 ABBA01005242;AC105219;AF370424;AK127960;AMYH02018947;BC007264;BC033256;BE856638;BM982083;CN272849;HM481257;NG_016652;NM_198488;XM_005250887;XM_005250888;XM_005250889;XM_005250890;XM_006725087;XM_006725088;XM_006725089;XM_006725090 AAH07264;AAH33256;AAQ15260;AEB00836;BAC87207;NP_940890;Q6ZRV2;XP_005250944;XP_005250945;XP_005250946;XP_005250947;XP_006725150;XP_006725151;XP_006725152;XP_006725153 Hs.67776;Hs.713170 2122024;5037552 D8S2279;RH46910 AI3;FLJ46072 FAM83H variant 1;OTTHUMP00000164909 APPROVED protein-coding ENSG00000180921 HGNC:24797 13521 130900;611927 REVIEWED 2300139 FAM85B family with sequence similarity 85, member B p23.1 619431 CD106111 Hs.656893 protein-coding HGNC:32160 1602648 FAM84A family with sequence similarity 84, member A INTERACTS WITH copper atom; copper(0); ochratoxin A 2 2 2 p24.3 14690800 14698160 + 14772810 14780170 + 14632686 14640046 + 6480464 12477932;14702039;15489334;15815621;16820875;18667531;22589738;23824909 151354 Q96KN4 ABBA01015678;AC011897;AF370404;AJ417080;AK092654;AK314463;AMYH02003310;BC026346;BC029933;BC052284;BI547868;BX113099;CH471053;NM_145175;XM_006711861 AAH26346;AAH52284;AAQ15240;AAY15041;ABM84299;ABM84573;ABM87694;ABM87854;BAC03938;BAG37071;CAD10038;EAX00905;NP_660158;Q96KN4;XP_006711924 Hs.260855 1652375;1688360;1770530;2149056 D2S1661E;RH78874;RH99165;SHGC-36750 FLJ35392;NSE1;PP11517 OTTHUMP00000147636;OTTHUMP00000200419;neurologic sensory protein 1;neurological/sensory 1 protein-coding ENSG00000162981 HGNC:20743 17647 611234 VALIDATED 1606136 FAM84B family with sequence similarity 84, member B FOUND IN cytoplasm; plasma membrane; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; aflatoxin B1 8 8 8 q24.21 123744691 123750470 - 127564683 127570717 - 126552438 126558472 - 6480464 12477722;12477932;15489334;16490593;17207965;17401363;17401366;17529967;17618283;17618284;18372901;19322201;19549893;20062064;20158306;23251661;23326517 157638 Q96KN1 ABBA01037930;AC084116;AJ417849;AK074285;AK292824;AMYH02018745;BC033717;BC052957;CH471060;NM_174911;XR_242379;XR_428376 AAH52957;ADQ32502;BAF85513;CAD10629;EAW92090;NP_777571;Q96KN1 Hs.741352 1697188;1699748;1769922;1775915 RH102084;RH103480;RH44809;RH78068 BCMP101;NSE2 OTTHUMP00000228215;breast cancer membrane protein 101;breast cancer membrane-associated protein 101;neurological/sensory 2 2292709 PRSTS2_H protein-coding ENSG00000168672 HGNC:24166 11403 609483 VALIDATED 1603258 FAM86A family with sequence similarity 86, member A ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH all-trans-retinoic acid; bisphenol A; copper atom 16 16 16 p13.3 5343693 5357187 - 5134301 5147789 - 5084300 5097820 - 6480464;8554872 12477932;15489334;16189514;17207965;21906983;21963094;22589738;23349634;23514108;7829101;8889548 196483 K7EIJ3;K7EQE4;K7ES84;Q96G04 AA454579;ABBA01026798;ABBA01026799;ABBA01026800;AC026458;AI669435;AL522535;AMYH02031332;AY037162;BC010084;BF314717;BG024981;BG683728;BI491350;BM691620;BQ215173;BQ921410;CA495371;CH471112;HY017433;HY265953;JX424572;NM_001289029;NM_201400;NM_201598;XM_005255157;XM_005255158;XM_006720859 AAH10084;AAK67640;ADQ32295;AGL91772;EAW85229;EAW85230;EAW85231;EAW85232;EAW85233;EAW85234;EAW85235;EAW85236;EAW85237;EAW85238;EAW85239;NP_001275958;NP_958802;NP_963892;Q96G04;XP_005255214;XP_005255215;XP_006720922 Hs.406461;Hs.592086 1656559 D8S1640 MGC19636;SB153 OTTHUMP00000159920;OTTHUMP00000159921;hypothetical protein LOC196483 protein-coding ENSG00000118894 HGNC:32221 18018 615263 VALIDATED 1626585 FAM86B2 family with sequence similarity 86, member B2 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cadmium dichloride (ortholog); phenethyl isothiocyanate (ortholog) 8 8 8 p23.1 354 3118 + 12283064 12293909 - 12425070 12436400 - 6480464 19718026;21906983;23349634 653333 E9PPT9;E9PQV7;P0C5J1 ABBA01026870;AC087203;AC243920;AK291001;AK297741;AK298940;AK309984;NM_001137610;XM_005273603;XM_005273604;XM_005273605;XM_005273606;XM_005273607;XM_006716387;XM_006716388;XM_006726459;XR_247129;XR_428316 BAF83690;BAG60091;BAG61040;NP_001131082;P0C5J1;XP_005273660;XP_005273661;XP_005273662;XP_005273663;XP_005273664;XP_006716450;XP_006716451;XP_006726522 Hs.458413 2155238 D8S1993 OTTHUMP00000229846;hypothetical protein LOC653333 protein-coding ENSG00000145002 HGNC:32222 PREDICTED 1626194 FAM85A family with sequence similarity 85, member A INTERACTS WITH methyl methanesulfonate; methylmercury chloride 8 8 p23.1 12051802 12060118 + 12194292 12202609 + 6480464 619423 AC145124;AMYH02017466;XR_110590;XR_246649;XR_246650;XR_246651;XR_246652;XR_252375;XR_252376 ncrna HGNC:17606 MODEL 1602306 FAM83F family with sequence similarity 83, member F INTERACTS WITH (S)-nicotine; atrazine; valproic acid 22 22 22 q13.1 24192998 24228085 + 40390953 40426043 + 39994949 40030039 + 6480464 12477932;17342744;19322201;19834535;21906983 113828 Q8NEG4 ABBA01055587;ABBA01055588;AMYH02038392;AMYH02038393;AMYH02038394;BC011204;BC031099;CH471095;NM_138435;Z82206;Z83847 AAH11204;AAH31099;EAW60365;EAW60366;NP_612444;Q8NEG4 Hs.197680 1652588;2118976;2165556;2185441;2186455 AL021673;D22S1197;D22S299;D22S302;D22S630 OTTHUMP00000198255;hypothetical protein LOC113828 protein-coding HGNC:25148 11228 VALIDATED 7246453 FAM83H-AS1 FAM83H antisense RNA 1 (head to head) 8 8 8 q24.3 141127324 141139522 + 144816310 144828507 + 143734140 143746337 + 11181995;14702039 100128338 ABBA01005242;AC105219;AK091211;AK124079;AK125852;AMYH02018947;CH471162;HG501802;NR_033849 BAC86320;EAW82201 Hs.493171 5016478;5016781;5020946;5024272;5037552 D2S1254;D8S2279;GDB:434012;L17971;SHGC-67307 RP11-429J17.6 ncrna ENSG00000203499 HGNC:48720 VALIDATED 6907750 FAM86B3P family with sequence similarity 86, member B3, pseudogene 8 8 8 p23.1 7214408 7230704 + 8086092 8102387 + 8228570 8244865 + 11181995;12477932;21906983;21988832 286042 ABBA01026926;AC068020;AF217970;AK304567;AK307256;AMYH02017388;BC035792;CH471157;NR_024361;NR_024362;NR_024363 AAG17213;BAG65358;EAW65560 Hs.656318 5017088;5024193;5038404 ECD12792;REN80957;STS-W81598 pseudo ENSG00000173295 HGNC:44371 PROVISIONAL 1347604 FAM83D family with sequence similarity 83, member D INVOLVED IN mitotic nuclear division (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; benzo[a]pyrene 20 20 20 q11.23 34265630 34292378 + 37554955 37581703 + 38926312 38953060 + 6480464;8554872 11780052;12477932;14702039;15489334;16565220;18485706;20360068;21139048;21890473;21900206;21906983;21963094;21987572;22797925;23205133;23455922;23455924 81610 Q9H4H8 ABBA01052534;AK055793;AK095660;AK303860;AL023803;AMYH02037064;AMYH02037065;AMYH02037066;BC001068;BC006553;BC053683;BC063661;BC080188;CH471077;CS300536;NM_030919 AAH01068;AAH06553;AAH53683;AAH63661;AAH80188;BAB71016;BAG64799;CAK32200;EAW76008;NP_112181;Q9H4H8 Hs.726442 2141488;2167655 RH47584;Z94531 C20orf129;FLJ38341;dJ616B8.3 CHICA;OTTHUMP00000030981;mitotic spindle protein CHICA;spindle protein CHICA protein-coding ENSG00000101447 HGNC:16122 12744 VALIDATED 1602694 FAM86C1 family with sequence similarity 86, member C1 INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 11 11 11 q13.4 68800691 68814414 + 71498557 71512280 + 71787511 71801234 + 6480464 12477932;14702039;16189514;21906983;23349634 55199 B4DDJ9;D6R9N2;Q9NVL1 ABBA01017546;ABBA01017547;AK001523;AK130709;AK293221;AK311428;AK311518;AK311675;AK315454;AMYH02025068;AP002495;BC032519;BQ921333;CH471076;DC312827;NM_001099653;NM_018172;NM_152563 AAH32519;ADZ15696;BAA91739;BAG37841;BAG56760;EAW74795;EAW74796;EAW74797;EAW74798;EAW74799;EAW74800;EAW74801;EAW74802;NP_001093123;NP_060642;NP_689776;Q9NVL1 Hs.567527 FAM86C;FLJ10661;FLJ27199;MGC45068 OTTHUMP00000218467;OTTHUMP00000218468;OTTHUMP00000236010;OTTHUMP00000238419;family with sequence similarity 86, member C;hypothetical protein LOC55199 APPROVED protein-coding ENSG00000158483 HGNC:25561 13337 VALIDATED 5134886 FAM86HP family with sequence similarity 86, member H, pseudogene 3 3 3 q22.1 128245024 128258669 - 129816625 129830276 - 130097782 130111433 - 14702039;16344560 729375 ABBA01059209;AC083906;AC130888;AK124448;AMYH02007654;DA296336;NR_024252 Hs.123633 pseudo HGNC:42359 PROVISIONAL 5135127 FAM86C2P family with sequence similarity 86, member C2, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q13.2 64892475 64906041 - 67559238 67572807 - 67791767 67805336 - 6480464 12477932;14702039;16641997;21906983 645332 A6NEL3 ABBA01024025;ABBA01024026;AK055771;AMYH02024999;AP003716;BC063712;BC110365;CH471076;NR_024249 A6NEL3;EAW74671 Hs.535094 1768459 SHGC-77297 FLJ31209 pseudo ENSG00000160172 HGNC:42392 PROVISIONAL 1605607 FAM86B1 family with sequence similarity 86, member B1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; copper atom 8 8 8 p23.1 1693 3118 + 12039613 12051624 - 12182104 12194115 - 6480464;8554872 12477932;14702039;16344560;21906983;23349634;85002 85002 E9PLC7;E9PLW5;E9PM45;E9PN63;E9PNH4;E9PRJ7;F6TTG8;H0YD24;H0YDM8;Q4KMP3;Q8N7N1;R4GN25;R4GNF6 AC145124;AK098138;AK308439;AK308513;AL529666;AMYH02017466;BC048297;BC062615;BC085016;BC093808;BC093810;BC098427;BE729618;DA552021;NM_001083537;NR_003494;XM_006716255;XM_006716256;XM_006716257;XM_006716258;XM_006716259;XM_006716260;XM_006716261;XM_006716262;XR_428289;XR_428290 AAH98427;BAC05241;NP_001077006;Q8N7N1;XP_006716318;XP_006716319;XP_006716320;XP_006716321;XP_006716322;XP_006716323;XP_006716324;XP_006716325 Hs.675799 1683184;2155238 D8S1993;RH92175 MGC104828;MGC16279 OTTHUMP00000229299;OTTHUMP00000229300;OTTHUMP00000229301;OTTHUMP00000229307;OTTHUMP00000229308;hypothetical protein LOC85002 protein-coding ENSG00000186523 HGNC:28268 17515 VALIDATED 5134911 FAM86EP family with sequence similarity 86, member E, pseudogene INTERACTS WITH all-trans-retinoic acid 4 4 4 p16.3 3841675 3855156 - 3943669 3957148 - 3941942 3955421 - 6480464 12477932;21906983;8889548 348926 AA421090;ABBA01008232;AC116562;AC143342;AC226119;AMYH02008639;BC044637;BM718734;BU742387;CN481473;NR_024253 Hs.591720 5118254 D16S2651 pseudo HGNC:28017 PROVISIONAL 6766471 FAM86JP family with sequence similarity 86, member J, pseudogene 3 3 3 q21.2 124055174 124068605 + 125635444 125648867 + 125916601 125930024 + 12477932;16341674;16344560 100125556 Q05BU3 ABBA01016401;ABBA01016402;AC092903;AMYH02007580;BC032772;BC041080;BM781991;DA599453;NR_024250;NR_024251 Q05BU3 Hs.553949 1768459 SHGC-77297 pseudo ENSG00000171084 HGNC:44097 PROVISIONAL 6766682 FAM86LP family with sequence similarity 86, member L, pseudogene 7 7 7 p22.1 6940512 6949010 - 6970611 6979244 - 6930980 6939613 - 9847074 641924 ABBA01056512;AC079804;AMYH02015186;NG_006619 pseudo HGNC:44099 INFERRED 1602979 FAM87A family with sequence similarity 87, member A FOUND IN integral component of membrane (inferred) 8 8 8 p23.3 293829 301072 - 325931 333174 - 375931 383174 - 12477932 157693 P0C7U9 ABBA01007277;AC136777;AMYH02017215;BC037297;BC118644;HG500789;HG500791;NR_103537 P0C7U9 Hs.591390 1716687;5493657 RH121602;UniSTS:490132 RP11-63E5.8 ncrna ENSG00000182366 HGNC:27233 VALIDATED 1606075 FAM87B family with sequence similarity 87, member B FOUND IN integral component of membrane (inferred) 8 1 1 p36.33 295674 296292 - 752751 755214 + 817371 819834 + 14702039 400728 Q8N852 ABBA01016000;AK097327;AL669831;AMYH02000067;CH471181;NR_103536 BAC04999;EAW51456;EAW51457;Q8N852 Hs.568078 1716687;5493657 RH121602;UniSTS:490132 FLJ40008 ncrna ENSG00000177757 HGNC:32236 VALIDATED 1602405 FAM89A family with sequence similarity 89, member A ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 1 1 1 q42.2 204421289 204422460 - 231154704 231175995 - 231018958 231040249 - 6480464;8554872 12477932;15489334;16710414 375061 Q96GI7 ABBA01033033;AL732414;AMYH02002885;AMYH02002886;BC009447;CD365446;NM_198552 AAH09447;NP_940954;Q96GI7 Hs.38516 1339374;1674037;1682159;1688524;1690360;2121372;7187033 Cda0fc06;D1S225;RH64743;RH64880;RH65312;SHGC-76520 C1orf153;MGC15887;RP11-423F24.2 OTTHUMP00000036071 protein-coding ENSG00000182118 HGNC:25057 11845 VALIDATED 1602732 FAM86DP family with sequence similarity 86, member D, pseudogene INTERACTS WITH paracetamol 3 3 3 p12.3 75418627 75432191 - 75470703 75484266 - 75421552 75435115 - 6480464 12477932;15489334;16344560;16641997;21906983 692099 ABBA01030984;AC139453;AMYH02007087;BC016686;BC043342;BC068011;BC068108;BC094682;DA753838;NR_024241 Hs.591652 FAM86D APPROVED pseudo ENSG00000244026 HGNC:32659 VALIDATED 6766586 FAM86MP family with sequence similarity 86, member M, pseudogene 4 4 4 p16.1 10174939 10185369 + 9694721 9705218 + 9693097 9703594 + 9847074 644517 ABBA01032504;AC105916;AMYH02008741;NG_008782 1656559;1661127;1850624 D4S520;D8S1640;G34285 pseudo HGNC:44100 INFERRED 3208149 FAM8A10P family with sequence similarity 8, member A10 pseudogene Y Y q11.223 24872155 24875401 + 22726008 22729254 + 12815422;9847074 386728 AC010080;NG_004755 1697126;1790139 RH102047;sY1192 pseudo HGNC:23871 VALIDATED 5134949 FAM86GP family with sequence similarity 86, member G, pseudogene 11 11 11 p15.4 3419079 3432763 - 3429470 3443771 - 3408240 3422577 - 387745 ABBA01032063;ABBA01032064;AC123788;AC127526;AMYH02024223;NG_008770 pseudo HGNC:42358 INFERRED 1348074 FAM8A4P family with sequence similarity 8, member A4 pseudogene 11707071 114180 AC002992;AF315801;NG_023041 1746053;1781340;2190303;5116184 AZFa-prox2;G49202;G64723;sY2297 pseudo HGNC:16375 1350392 FAM8A3P family with sequence similarity 8, member A3 pseudogene 2 2 2 q23.2 143788839 143795297 + 150174907 150181365 + 149318393 149324851 + 11707071 100129594 ABBA01004742;AC007394;AF315797;AMYH02004961;NG_009311 pseudo HGNC:16374 INFERRED 6766389 FAM86KP family with sequence similarity 86, member K, pseudogene 4 4 p16.1 9155022 9167220 + 9153296 9165494 + 100287013 AC108519;AMYH02008706;XM_005248223;XM_005276247 XP_005248280;XP_005276304 protein FAM86A-like protein-coding HGNC:44098 MODEL 1606565 FAM89B family with sequence similarity 89, member B ENCODES a protein that exhibits transcription corepressor binding (ortholog); INVOLVED IN negative regulation of SMAD protein import into nucleus (ortholog); negative regulation of transforming growth factor beta receptor signaling pathway (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; cadmium atom 11 11 11 q13 62666209 62668103 + 65339820 65341669 + 65572349 65574198 + 6480464;8554872 10512749;11958456;12477932;15489334;17207965;25107909;8619474;9110174;9525630 23625 Q8N5H3 ABBA01024111;AF052151;AMYH02024961;AP001362;BC023991;BC032373;BE394215;BQ927525;DR001553;NM_001098784;NM_001098785;NM_152832 AAH23991;AAH32373;ADQ32093;NP_001092254;NP_001092255;NP_690045;Q8N5H3 Hs.731854 1686330;2109533;2168824 G33124;MTVR1_9385;RH80452 LRAP25;MTVR1 OTTHUMP00000233085;OTTHUMP00000233086;OTTHUMP00000233087;leucine repeat adaptor protein 25;mammary tumor virus receptor homolog 1 protein-coding ENSG00000176973 HGNC:16708 10100 VALIDATED 1350260 FAM8A4P family with sequence similarity 8, member A4 pseudogene X Y Y q11.21 1419180 1421056 + 14442208 14444084 + 12321481 12323357 + 11707071;12815422 386726 ABBA01065665;AC002992;AC245171;AF315801;NG_003135 FAM8A8P APPROVED pseudo HGNC:16375 INFERRED 1343456 FAM8A2P family with sequence similarity 8, member A2 pseudogene 11 11 11 q12.1 53435396 53440779 - 56095320 56100703 - 56327844 56333227 - 11707071 728097 ABBA01021463;AC022882;AF315800;AMYH02024832;NG_009310 pseudo HGNC:16373 INFERRED 1343399 FAM8A7P family with sequence similarity 8, member A7 pseudogene Y Y Y p11.2 1174507 1175848 + 8045867 8047208 - 8177826 8179167 - 12815422 386725 ABBA01060199;AC016749;NG_003134 pseudo HGNC:23868 INFERRED 1351379 FAM8A5P family with sequence similarity 8, member A5 pseudogene 6 6 6 28297976 28302542 - 3777559 3782125 + 3771974 3776540 + 11707071 114181 ABBA01028477;AF315798;BX296568;CR753309;CR753841;CR933540;NG_001298 pseudo HGNC:16376 INFERRED 1342521 FAM8A6P family with sequence similarity 8, member A6 pseudogene 6 6 6 135662392 135667004 - 134924280 134925377 - 134603142 134604239 - 11707071 114182 ABBA01025854;AF315799;AL078590;AMYH02014534;NG_001299 pseudo HGNC:16377 INFERRED 5134932 FAM86FP family with sequence similarity 86, member F, pseudogene 12 12 12 p13.31 9949938 9961836 - 8383645 8395542 - 8231049 8242946 - 653113 ABBA01012239;AC092111;AC247052;BX282364;NR_024254 Hs.661749 1683184 RH92175 pseudo HGNC:42357 PROVISIONAL 1351875 FAM8A1 family with sequence similarity 8, member A1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 5-azacytidine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 p23 18838570 18849979 + 17600518 17611950 + 17600287 17611719 + 1580863;6480464;8554872 11707071;12477932;14574404;15144186;15489334;16344560;22119785;22645275 51439 B4DK49;Q9UBU6 ABBA01022221;AF086479;AF097026;AF097027;AK074301;AK296393;AK307681;AK312814;AL050128;AL138824;AMYH02013202;BC047881;BQ015864;CH471087;DA333190;NM_016255 AAF07849;AAF07850;AAH47881;BAG35672;BAG59061;EAW55382;EAW55383;NP_057339;Q9UBU6 Hs.95260 1697126 RH102047 AHCP;FLJ23721 Autosomal Highly Conserved Protein;OTTHUMP00000016068 protein-coding ENSG00000137414 HGNC:16372 13316 VALIDATED 1605169 FAM90A13P family with sequence similarity 90, member A13, pseudogene FAM90A13 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7135632 7140864 + 7278110 7283342 + 17684299;18602769 441314 P0C7W8 AF228730;NG_032076 P0C7W8 FAM90A13 putative protein FAM90A13 APPROVED pseudo HGNC:32261 613049 INFERRED 1344549 FAM8A9P family with sequence similarity 8, member A9 pseudogene Y Y Y q11.222 7478949 7480897 + 22772000 22773948 + 20610114 20612062 + 12815422;9847074 386727 ABBA01057457;AC007678;NG_003136 pseudo HGNC:23870 INFERRED 1604669 FAM90A14P family with sequence similarity 90, member A14, pseudogene FAM90A14 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, May 2010] 8 8 p23.1 7571305 7576537 + 7713783 7719015 + 17684299;18602769 645651 P0C7W9 AC084121;AMYH02017374;NG_032081 P0C7W9 FAM90A14 putative protein FAM90A14 APPROVED pseudo HGNC:32262 613050 INFERRED 1604443 FAM90A15P family with sequence similarity 90, member A15, pseudogene FAM90A15 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7112765 7117998 + 7255243 7260476 + 17684299;18602769 389630 P0C7V4 AF228730;NG_032075 P0C7V4 FAM90A15 family with sequence similarity 90, member A15;putative protein FAM90A15 APPROVED pseudo HGNC:32263 613051 INFERRED 1602388 FAM90A10P family with sequence similarity 90, member A10, pseudogene FAM90A10 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7627106 7628835 + 7769584 7771313 + 6480464 17684299;18602769 441328 A6NDY2 AC084121;AMYH02017332;DC395395;NR_046351 A6NDY2 Hs.694406 FAM90A10 putative protein FAM90A10 APPROVED pseudo HGNC:32258 613047 VALIDATED 1605168 FAM90A16P family with sequence similarity 90, member A16, pseudogene ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred) 8 8 p23.1 7586599 7591833 + 7729077 7734311 + 17684299;18602769 441323 A6NEW6 AC084121;NG_011769 A6NEW6 FAM90A16 APPROVED pseudo HGNC:32264 INFERRED 1605664 FAM90A1 family with sequence similarity 90, member A1 FAM90A1 belongs to subfamily I of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]).[supplied by OMIM, Oct 2009] 12 12 12 p13.31 9940151 9946507 - 8373856 8380214 - 8221260 8227618 - 6480464 12477932;14702039;16344560;17684299;21832049;23443559;23602568 55138 F5H7S5;Q86YD7 ABBA01012239;AC092111;AC247052;AK001270;BC042608;CH471116;DA088850;NM_018088;XM_005253403;XM_006719097;XM_006719098 AAH42608;ADZ15619;BAA91593;EAW88629;EAW88630;NP_060558;Q86YD7;XP_005253460;XP_006719160;XP_006719161 Hs.196086 5024133 G09358 FLJ10408 OTTHUMP00000239127;OTTHUMP00000239128;hypothetical protein LOC55138 APPROVED protein-coding ENSG00000171847 HGNC:25526 07672 613041 VALIDATED 1604856 FAM90A17P family with sequence similarity 90, member A17, pseudogene ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred) 8 8 p23.1 7601894 7607128 + 7744372 7749606 + 16421571;17684299;18602769 728746 A6NEW6 AC084121;NG_011770 A6NEW6 FAM90A17 APPROVED pseudo HGNC:32265 INFERRED 1604855 FAM90A19P family with sequence similarity 90, member A19, pseudogene FAM90A19 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7609542 7614776 + 7752020 7757254 + 17684299;18602769 728753 A6NE21 AC084121;NG_032084 A6NE21 FAM90A18;FAM90A19 putative protein FAM90A18/FAM90A19 APPROVED pseudo HGNC:32267 613053 INFERRED 1605149 FAM90A21P family with sequence similarity 90, member A21, pseudogene 8 8 p23.1 7421310 7426541 - 7563788 7569019 - 17684299;18602769 619418 AC134684;AC246795;NG_005998 APPROVED pseudo HGNC:32269 INFERRED 1604860 FAM90A23P family with sequence similarity 90, member A23, pseudogene ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred) 8 8 p23.1 7436604 7441835 - 7579082 7584313 - 17684299;18602769 645572 A8MXZ1 AC134684;AMYH02017307;NG_006002 A8MXZ1 FAM90A23 APPROVED pseudo HGNC:32271 INFERRED 1605164 FAM90A24P family with sequence similarity 90, member A24, pseudogene ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred) 8 8 p23.1 7876948 7882180 - 8019426 8024658 - 17684299;18602769 441332 P0C7X0 ABBA01001664;AC105233;NG_006004 P0C7X0 FAM90A24 APPROVED pseudo HGNC:32272 INFERRED 1604127 FAM90A12P family with sequence similarity 90, member A12, pseudogene FAM90A12 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Jul 2010] 8 8 p23.1 7884596 7889827 - 8027074 8032305 - 16421571;17684299;18602769 645879 A8MX19 AC105233;AMYH02017321;NG_032086 A8MX19 FAM90A12 Putative protein FAM90A12;family with sequence similarity 90, member A12 APPROVED pseudo HGNC:32260 613048 INFERRED 1604861 FAM90A22P family with sequence similarity 90, member A22, pseudogene ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred) 8 8 p23.1 7428955 7434191 - 7571433 7576669 - 17684299;18602769 645558 A8MWA6 AC134684;NG_006001 A8MWA6 FAM90A22 APPROVED pseudo HGNC:32270 INFERRED 5688485 FAM90A26 family with sequence similarity 90, member A26 ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred) 4 4 p16.1 9172114 9178456 + 9170388 9176730 + 100287045 D6RGX4 AC108519;NG_032089 FAM90A26P APPROVED pseudo HGNC:43746 INFERRED 5688557 FAM90A27P family with sequence similarity 90, member A27, pseudogene ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred) 19 19 19 q13.42 50824835 50829890 + 53785543 53787602 + 53282290 53284349 + 15057824 646508 A6NNH2 ABBA01068217;AC092070;AMYH02036423;DN930351;NR_046365 Hs.574588 1331580 D19S589 pseudo ENSG00000189348 HGNC:43617 VALIDATED 1604441 FAM90A25P family with sequence similarity 90, member A25, pseudogene INTERACTS WITH cadmium atom 8 8 p23.1 12272030 12275541 - 12414521 12418032 - 6480464 17684299;18602769 389633 AC087203;AC243920;AL832996;NR_073395 CAH56347;Q658T7 Hs.650464 5095780 RH123756 APPROVED pseudo HGNC:32246 VALIDATED 5688567 FAM90A28P family with sequence similarity 90, member A28, pseudogene 19 19 19 q13.42 50843989 50853701 - 53802301 53805379 - 53299048 53302126 - 100128254 ABBA01068217;AC092070;AMYH02036424;NG_028700 1331580;1732747 D19S589;D19S727 pseudo HGNC:43747 INFERRED 1606041 FAM90A2P family with sequence similarity 90, member A2, pseudogene 8 8 p23.1 12030963 12034776 - 12173454 12177267 - 17684299;18602769 729689 Q658T7 ABBA01026872;AC130366;AC145124;AMYH02017466;CX762572;NR_046354 Hs.741074 APPROVED pseudo HGNC:32250 VALIDATED 1605170 FAM90A4P family with sequence similarity 90, member A4, pseudogene 8 8 p23.1 7128010 7133242 + 7270488 7275720 + 17684299;18602769 441313 AF228730;NG_006005 FAM90A4 APPROVED pseudo HGNC:32252 INFERRED 1602036 FAM90A3P family with sequence similarity 90, member A3, pseudogene FAM90A3 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7120388 7125620 + 7262866 7268098 + 17684299;18602769 389611 AF228730;NG_032074 FAM90A3 family with sequence similarity 90, member A3 APPROVED pseudo HGNC:32251 613042 INFERRED 1604444 FAM90A6P family with sequence similarity 90, member A6, pseudogene 8 8 p23.1 7406015 7411245 - 7548493 7553723 - 17684299;18602769 389618 AC134684;AC246795;NG_006009 APPROVED pseudo HGNC:32254 INFERRED 1605741 FAM90A20P family with sequence similarity 90, member A20, pseudogene FAM90A20 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 4 8 8 p23.1 46158 47895 - 7150876 7156106 + 7293354 7298584 + 16421571;17684299;18602769 728430 A6NIJ5 AC243982;AF228730;AMYH02017299;AMYH02017300;AMYH02017301;AMYH02017302;AMYH02017303;AMYH02017304;AMYH02017305;NG_032078 A6NIJ5 FAM90A20 putative protein FAM90A20 APPROVED pseudo HGNC:32268 613054 INFERRED 1602389 FAM90A9P family with sequence similarity 90, member A9, pseudogene FAM90A9 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7617190 7622424 + 7759668 7764902 + 17684299;18602769 441327 A6NNJ1 AC084121;AMYH02017332;NG_032085 A6NNJ1 FAM90A9 putative protein FAM90A9 APPROVED pseudo HGNC:32257 613046 INFERRED 1602390 FAM90A8P family with sequence similarity 90, member A8, pseudogene FAM90A8 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7594247 7599480 + 7736725 7741958 + 17684299;18602769 441324 A6NJQ4 AC084121;NG_032083 A6NJQ4 FAM90A8 putative protein FAM90A8 APPROVED pseudo HGNC:32256 613045 INFERRED 1602391 FAM90A7P family with sequence similarity 90, member A7, pseudogene FAM90A7 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 4 8 8 p23.1 45598 47895 - 7413660 7416626 - 7556138 7559104 - 6480464 17684299;18602769 441317 A6NKC0 AC134684;AC246795;AK301810;NR_046343 A6NKC0;BAG63259 Hs.715411 FAM90A7 OTTHUMP00000196827;putative protein FAM90A7 APPROVED pseudo HGNC:32255 613044 VALIDATED 1605167 FAM90A18P family with sequence similarity 90, member A18, pseudogene FAM90A18 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7578951 7584185 + 7721429 7726663 + 17684299;18622769 441326 AC084121;NG_032082 A6NE21 FAM90A18;FAM90A19 putative protein FAM90A18/FAM90A19 APPROVED pseudo HGNC:32266 613052 INFERRED 1602392 FAM90A5P family with sequence similarity 90, member A5, pseudogene FAM90A5 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, May 2010] 8 8 p23.1 7143254 7148486 + 7285732 7290964 + 17684299;18602769 441315 A8MXJ8 AF228730;NG_032077 A8MXJ8 FAM90A5 putative protein FAM90A5 APPROVED pseudo HGNC:32253 613043 INFERRED 1626255 FAM92A1P1 family with sequence similarity 92, member A1 pseudogene 1 15 15 15 q15.1 18223199 18224568 + 41455322 41456695 + 41163124 41164697 + 10737800;12477932 729073 ABBA01038423;AC022408;AMYH02030264;NG_011983 1708402 SHGC-83483 DKFZp564I0278;FAM92A2 APPROVED pseudo HGNC:32278 INFERRED 1642208 FAM91A3P family with sequence similarity 91, member A3 pseudogene 1 1 1 q21.2 121227700 121243157 - 149239530 149263301 + 143744879 143768655 + 729182 AC239800;AL356957;NG_007181 pseudo HGNC:32273 INFERRED 1605165 FAM90A11P family with sequence similarity 90, member A11, pseudogene 8 8 p23.1 7869304 7874534 - 8011782 8017012 - 17684299;18602769 441331 ABBA01001664;AC105233;NG_006010 FAM90A11 APPROVED pseudo HGNC:32259 INFERRED 1604747 FAM92A1 family with sequence similarity 92, member A1 INTERACTS WITH copper(2+) sulfate; kojic acid; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 8 8 8 q22.1 90898882 90926735 + 94712480 94741481 + 93700252 93729250 + 6480464 12477932;14702039;17646714;19059705;19060904;21906983;22832960 137392 A1XBS5;E5RFH7;E5RFS7;E5RGD0;E5RGE3;E5RGP4;E5RHA4;E5RHK0;E5RID3;F8W7P5;H0YC32 ABBA01037438;AC010834;AC120053;AK096298;AMYH02018420;BC014598;BC108707;CR627475;DQ327715;DQ327716;NM_001283034;NM_145269;NR_104267;NR_104268;XM_005250783;XM_005250784;XM_005250786;XM_005250787;XM_006716506 A1XBS5;AAH14598;AAI08708;ABC55436;ABC55437;BAC04753;CAH10675;NP_001269963;NP_660312;XP_005250840;XP_005250841;XP_005250843;XP_005250844;XP_006716569 Hs.125038 1658549;1698054;1699214;2175141 RH102558;RH103188;RH68048;RH78498 FLJ38979 OTTHUMP00000226239;OTTHUMP00000226240;OTTHUMP00000226242;OTTHUMP00000226243;hypothetical protein LOC137392 protein-coding HGNC:30452 14061 VALIDATED 2293293 FAM93B family with sequence similarity 93, member B p23.1 12477932 619342 BC030685 Hs.621220 protein-coding HGNC:32289 2303479 FAM95B1 family with sequence similarity 95, member B1 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 9 9 p12 42468589 42474238 + 40323571 40329220 + 6480464 12477932;14702039;16751776 100133036 AK094938;AK125850;AL833349;AMYH02020060;BC064148;BX664727;DQ574527;NR_026759 Hs.584289 5021872 sY3084 DKFZp686P0734;FLJ37619;RP11-399F4.4 ncrna ENSG00000223839 HGNC:32318 PREDICTED 1605857 FAM91A1 family with sequence similarity 91, member A1 INTERACTS WITH copper(2+) sulfate; valproic acid; aflatoxin B1 (ortholog) 8 8 8 q24.13 120968947 121015229 + 124780679 124827692 + 123768439 123815452 + 6480464 12477932;14702039;15302935;16421571;17081983;19734545;20686608;21139048;21890473;21906983;23000965;24816145 157769 E7ER68;G3V120;H0YBR6;H0YC80;Q658Y4 ABBA01037884;ABBA01037885;AC011134;AK074370;AK300603;AL832830;AL832999;AMYH02018711;BC030520;BC144630;CH471060;DQ228141;NM_144963;XM_005250806 AAH30520;AAI67793;ABB17070;BAB85063;BAG62300;CAH56231;CAH56297;EAW92049;EAW92050;EAW92051;EAW92052;NP_659400;Q658Y4;XP_005250863 Hs.459174 1657734;1661535;1680785;1683870 D8S1379E;RH45611;RH94314;SHGC-53185 DKFZp666B104;FLJ23790 OTTHUMP00000163978;OTTHUMP00000228242;hypothetical protein LOC157769;skeletal muscle cells re-entry induced protein-coding ENSG00000176853 HGNC:26306 08676 VALIDATED 1603858 FAM92B family with sequence similarity 92, member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH titanium dioxide (ortholog) 16 16 16 q24.1 69434172 69448321 - 85131964 85146114 - 85098358 85112508 - 6480464;8554872 12477932;18580884;19262523;21472827 339145 Q6ZTR7 ABBA01016889;AC026469;AK126284;AMYH02032574;BC093665;BC111944;CH471114;NM_198491;XM_005255931 AAH93665;AAI11945;BAC86515;EAW95458;EAW95459;NP_940893;Q6ZTR7;XP_005255988 Hs.125713 FLJ44299;MGC138149 hypothetical protein LOC339145 protein-coding ENSG00000153789 HGNC:24781 13488 PROVISIONAL 1602947 FAM92A1P2 family with sequence similarity 92, member A1 pseudogene 2 4 4 4 q35.1 181292826 181295279 + 183958818 183961272 + 183037665 183040119 + 12477932 403315 ABBA01070496;AC019193;AMYH02010634;BC022019;BC047622;BC059396;BC094692;KF459879;NR_003612 Hs.652187 5037552 D8S2279 FAM92A3;MGC102964;MGC71735 APPROVED pseudo ENSG00000230219 HGNC:32287 VALIDATED 7252505 FAM95A family with sequence similarity 95, member A 2 2 2 q11.1 89774433 89776267 - 95421071 95426929 - 94755326 94761184 - 90499 ABBA01003588;AC073464;AL137712;AMYH02004297;NR_038409 Hs.458439 ncrna HGNC:28069 PREDICTED 7242150 FAM95C family with sequence similarity 95, member C 9 9 p13.1 38540564 38545369 - 38540567 38545372 - 14702039 100289137 ABBA01050379;AK097951;AL390726;AMYH02019511;NR_047651 Hs.732599 2162134 RH12064 ncrna HGNC:45272 VALIDATED 6482173 FAM96AP2 family with sequence similarity 96, member A pseudogene 2 1 1 1 q42.13 201492923 201493402 - 228302691 228303170 - 228114631 228115484 - 391174 ABBA01005830;AL136379;AMYH02002837;NG_005999 pseudo HGNC:43862 INFERRED 1604231 FAM98C family with sequence similarity 98, member C ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; disodium selenite 19 19 19 q13.2 35696012 35701965 + 38893775 38899728 + 38403135 38409088 + 6480464;8554872 12477932;15489334;21139048 147965 K7EQL1;K7EQT7;K7ES49;Q17RN3 ABBA01040680;AC005789;AK128745;AMYH02036071;BC034383;BC036482;BC080606;BC100033;BC117258;BC143830;BC171747;BI871449;BM561971;BX641942;CH471126;NM_174905 AAH80606;AAI17259;AAI43831;ADR83359;EAW56790;EAW56791;EAW56792;EAW56793;NP_777565;Q17RN3 Hs.355162 1653108;1770501;2175811;5015861;5015961;5016596;5018953;5020946;5022578;5024413;5037552;7185938 D10S16;D15S1477;D1S1423;D8S2279;G42236;GDB:631802;L17877;L17971;RH65873;SHGC-37260;WI-15564 FLJ44669 hypothetical protein LOC147965 protein-coding ENSG00000130244 HGNC:27119 14077 VALIDATED 1606116 FAM98B family with sequence similarity 98, member B ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN cytoplasm; nucleus; tRNA-splicing ligase complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; methyl methanesulfonate; pirinixic acid 15 15 15 q14 15513352 15544221 + 38746328 38777063 + 38454127 38487710 + 6480464 12477932;14702039;15489334;16344560;17353931;17567985;20639865;21110914;21139048;21145461;21890473;21906983;21963094;22174317;22939629;23000965;23463506;24132900;24457600;24816145 283742 H0YNA1;Q52LJ0 ABBA01038479;ABBA01038480;ABBA01038481;AC109631;AC116158;AI638256;AK095745;AMYH02030215;AMYH02030216;BC035600;BC045690;BC093898;BP872319;BP872410;BU633364;BX454964;CH471125;DA118586;DA520319;DB552059;NM_173611 AAH93898;BAC04621;EAW92369;EAW92370;EAW92371;NP_775882;Q52LJ0 Hs.625289;Hs.6799;Hs.744003 5022578 D1S1423 FLJ38426 OTTHUMP00000160268 protein-coding ENSG00000171262 HGNC:26773 08786 VALIDATED 1602086 FAM96A family with sequence similarity 96, member A ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN chromosome segregation (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH copper(2+) sulfate; cyclosporin A; dibutyl phthalate (ortholog) 15 15 15 q22.31 41244173 41265622 - 64364761 64386207 - 64072559 64094008 - 6480464 12477932;14702039;15146197;15489334;16189514;21139048;21906983;22683786;23891004;8889548 84191 H0YKV4;H0YLH6;Q9H5X1 AA809560;ABBA01038903;AC021541;AK304202;AK312171;AMYH02030595;BC008865;BM706342;BQ269528;CD722050;CH471082;CN421575;CS072305;DC415981;KF456067;NM_001014812;NM_001289108;NM_032231;NR_110310 AAH08865;BAG35105;BAH14131;CAI93443;EAW77660;EAW77661;EAW77662;NP_001014812;NP_001276037;NP_115607;Q9H5X1 Hs.439548 1657526;1679477;1797116;1854869;1855454;2186236;5091710 FLJ22875;G19675;RH16689;RH45603;RH45716;RH66054;RH70413 FLJ22875 MIP18 family protein FAM96A;OTTHUMP00000163905 protein-coding ENSG00000166797 HGNC:26235 08010 VALIDATED 1603675 FAM98A family with sequence similarity 98, member A ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; benzene; benzo[a]pyrene diol epoxide I 2 2 2 p22.3 33647433 33663066 - 33808727 33824362 - 33583662 33599295 - 6480464;8554872 12477932;14702039;16196087;17000644;18781797;20020773;20639865;21139048;21145461;21890473;21963094;22190034;23000965;24250222;24816145 25940 B4DT23;C9J3G8;E9PH82;I6L9E8;Q8NCA5 ABBA01074909;AC017050;AK027432;AK074867;AK096187;AK300023;AK302233;AL049943;AMYH02003570;BC020907;BC038581;BC060860;BC136768;BC136770;CH471053;CQ783714;CR936766;NM_015475 AAH20907;AAH60860;AAI36769;AAI36771;BAC11255;BAG53226;BAG61835;BAG63587;CAB43217;CAF86825;EAX00431;NP_056290;Q8NCA5 Hs.468140 1695916;2183245 SHGC-33436;SHGC-78874 DKFZp564F0522;DKFZp686O03192 OTTHUMP00000201302;OTTHUMP00000201327;hypothetical protein LOC25940 protein-coding ENSG00000119812 HGNC:24520 16808 VALIDATED 1348978 FAM9A family with sequence similarity 9, member A This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be a nuclear protein that is localized to the nucleolus, and has some similarity to a synaptonemal complex protein. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011] X X X p22.32 12936488 12947076 - 8758836 8769424 - 8790795 8801383 - 1580863;6480464 12213195;12477932;15489334;23455924 171482 Q8IZU1 ABBA01070664;ABBA01070665;AC003685;AF494343;AMYH02038820;AMYH02038821;BC112022;BC113449;BC143805;CH471074;NG_016564;NM_001171186;NM_174951 AAI12023;AAI13450;AAI43806;AAN07162;ADR83325;EAW98760;EAW98761;NP_001164657;NP_777611;Q8IZU1 Hs.382062 MGC138227;MGC142009;TEX39A OTTHUMP00000022874;testis expressed 39A APPROVED protein-coding ENSG00000183304 HGNC:18403 06506 300477 VALIDATED 1345371 FAM9C family with sequence similarity 9, member C This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011] X X X p22.2 17171404 17180585 - 13053736 13062917 - 13035617 13044798 - 1580863;6480464;8554872 12213195;12477932;15489334;16344560;23836295 171484 G3V1I3;H7C346;Q8IZT9 ABBA01071066;AC139705;AF494345;AK313776;AMYH02038888;BC127957;BX647580;BX648111;BX648919;CH471074;DA958431;DB333543;NG_021290;NM_174901;XM_005274460;XM_005274462;XM_005274463 AAI27958;AAN07164;BAG36514;CAI46007;CAI46034;CAI46094;EAW98815;EAW98816;EAW98817;NP_777561;Q8IZT9;XP_005274517;XP_005274519;XP_005274520 Hs.667546 2107075;5014051;5022200 D8S2278;FAM9C__7635;L18426 TEX39C OTTHUMP00000022923;OTTHUMP00000022924;OTTHUMP00000196387;testis expressed 39C APPROVED protein-coding ENSG00000187268 HGNC:18405 06507 300479 VALIDATED 2301772 FAM99B family with sequence similarity 99, member B (non-protein coding) 11 11 11 p15.5 1743115 1744784 - 1704500 1706859 - 1683270 1685629 - 100132464 ABBA01012155;AC130310;AMYH02024175;AP006285;HG503437;NR_026642 Hs.117797 2169447 RH44893 DKFZp781M09150 APPROVED ncrna ENSG00000205865 HGNC:32369 PREDICTED 1345676 FAM9B family with sequence similarity 9, member B This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011] X X X p22.32 13170755 13178835 - 8992271 9002168 - 9024995 9033121 - 1580863;6480464;8554872 12213195;12477932;14702039;15489334;18029348;21085121;21998597;22936694;24722188 171483 E9PL73;Q8IZU0 ABBA01070682;AC074281;AF494344;AK097501;AK128470;AMYH02038822;BC120955;BC120956;CH471074;NM_205849;XM_005274456 AAI20956;AAI20957;AAN07163;BAC05078;EAW98763;EAW98764;EAW98765;EAW98766;NP_995321;Q8IZU0;XP_005274513 Hs.733351 FLJ40182;TEX39B OTTHUMP00000022876;OTTHUMP00000022877;testis expressed 39B APPROVED protein-coding ENSG00000177138 HGNC:18404 06566;15955 300478 VALIDATED 2303853 FAM99A family with sequence similarity 99, member A (non-protein coding) 11 11 11 p15.5 1725158 1726584 + 1686829 1689086 + 1665599 1667856 + 387742 Q6AI09 ABBA01012152;ABBA01012153;ABBA01012154;AC130310;AK124823;AMYH02024175;AP006285;CR627417;LN608367;NR_026643 BAC85960;CAH10505 Hs.567908 2155360 RH36337 DKFZp781M09150;FLJ42833 APPROVED ncrna ENSG00000205866 HGNC:32368 18440 PREDICTED 1603367 FANCD2OS FANCD2 opposite strand This gene encodes a conserved protein of unknown function. [provided by RefSeq, Jan 2013] 3 3 3 p25.3 10058671 10085581 - 10123004 10149975 - 10081320 10108291 - 6480464;8554872 12477932;15489334;17207965 115795 H0YBI7;Q96PS1 ABBA01020392;ABBA01020393;AC034193;AF230334;AMYH02006245;AMYH02006246;AMYH02006247;AW074860;AY248899;BC028122;CH471055;NM_001164839;NM_173472;XR_427247;XR_427248;XR_427249 AAH28122;AAL05979;AAP20050;ADQ31605;EAW64059;NP_001158311;NP_775743;Q96PS1 Hs.190413 1662885;1684866;2107077;2136854 FANCD2_2498;RH92698;SGC34603;SHGC-76704 C3orf24;MGC40179 FANCD2 opposite strand protein;Fanconi anemia group D2 protein opposite strand transcript protein;OTTHUMP00000224987;OTTHUMP00000224989;hypothetical protein LOC115795;uncharacterized protein C3orf24 APPROVED protein-coding ENSG00000163705 HGNC:28623 17552 VALIDATED 1351449 FANCB Fanconi anemia, complementation group B The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group B. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] X X X p22.2 18976913 19006568 - 14861529 14891184 - 14843407 14873062 - 6480464;7240710;8699517;8554872 11307801;11601848;12477932;14702039;15342556;15489334;15502827;15611632;16116422;16679491;16720839;17289582;17396147;17903171;18302019;19536649;20301575;20301753;20332657;20347428;20347429;20360068;20465790;21910217;22505724;22705371;8609606;9382107;9480775 2187 C9J5X9;Q8NB91 ABBA01071238;ABBA01071239;ABBA01071240;ABBA01071241;ABBA01071242;ABBA01071243;AC140846;AK091383;AMYH02038908;BC043596;BC055411;BC136558;BC136560;BP236844;CH471074;NG_007310;NM_001018113;NM_152633 AAH43596;AAH55411;AAI36559;AAI36561;BAC03650;EAW98861;EAW98862;EAW98863;NP_001018123;NP_689846;Q8NB91 Hs.554740 FA2;FAAP90;FAAP95;FAB;FACB Fanconi anemia group B protein;OTTHUMP00000022952;OTTHUMP00000022953;fanconi anemia-associated polypeptide of 95 kDa;type 2 Fanconi pancytopenia APPROVED protein-coding ENSG00000181544 HGNC:3583 06557 300514;300515 REVIEWED 1602116 FAM96B family with sequence similarity 96, member B INVOLVED IN chromosome segregation; FOUND IN CIA complex; cytoplasm; MMXD complex; INTERACTS WITH cobalt dichloride; valproic acid; benzo[a]pyrene (ortholog) 16 16 16 q22.1 51474217 51476579 - 66965958 66968326 - 66932055 66934423 - 6480464 10810093;11042152;12107413;12477932;15489334;16189514;16344560;17353931;18029348;20797633;21139048;21722264;21906983;22190034;22678362;22939629;22990118;23022198;23150669;23443559;23891004;24035498;24041693;24130505 51647 H3BNV7;J3KS95;J3QLT9;Q9Y3D0 ABBA01025423;AC009084;AF151886;AF161467;AMYH02032220;BC001733;BC005023;BI598300;BI603322;BM091095;BQ955804;CD674578;CH471092;DA270099;DR155511;NM_016062;NR_024525;NR_046109 AAD34123;AAF29082;AAH01733;AAH05023;EAW83056;NP_057146;Q9Y3D0 Hs.9825 2122704 D16S3323 CGI-128;MIP18 MSS19-interacting protein of 18 kDa;hypothetical protein LOC51647;mitotic spindle-associated MMXD complex subunit MIP18 protein-coding ENSG00000166595 HGNC:24261 13033 614778 VALIDATED 7174889 FANCD2P1 Fanconi anemia, complementation group D2 pseudogene 1 3 3 3 9969996 9971445 + 10034558 10036007 + 9992874 9994323 + 100421239 ABBA01020396;AC022007;AMYH02006243;NG_025673 pseudo HGNC:44487 INFERRED 1343234 FANCD2 Fanconi anemia, complementation group D2 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 3 p26 10003566 10079281 + 10068113 10143614 + 10026384 10101930 + 1580863;1601137;6480464;7240710;8554872;8699517 11239453 10762542;11239454;11733219;11751423;12042798;12086603;12093742;12239151;12389351;12447395;12477932;12607003;12607005;12649160;12874027;12887909;12973351;14499622;14517836;14667412;14702039;14743216;14988723;15115758;15199141;15257300;15302935;15314022;15377654;15454491;15489334;15502827;15650050;15661754;15671039;15694335;15849361;15886296;16116422;16127171;16474167;16513431;16679306;16943440;17304220;17308347;17314511;17333336;17436244;17460694;17643815;17898070;18029388;18082604;18212739;18263878;18270339;18469862;18475298;18482162;18672388;18781797;18931676;18950845;19011769;19047177;19064571;19064572;19129235;19237606;19322201;19423727;19465922;19466639;19471022;19504183;19536092;19536649;19561358;19609304;19671671;19690177;19704162;19714462;19729998;19748364;19861535;19995904;20040763;20301575;20301753;20339950;20363922;20379614;20450923;20496165;20507282;20519958;20538911;20556575;20603015;20603016;20603073;20671156;20676667;20805509;20819778;20967207;21139048;21203397;21229326;21314979;21355096;21520247;21693764;21697891;21775430;21865299;21890473;21906983;21912593;21919919;21963094;21995812;22053931;22287633;22484854;22505724;22705371;22828868;22829014;22855611;22863883;22872141;23000965;23063585;23318456;23357080;23388460;23602568;23633493;23852546;23897704;23965832;23993743;24036990;24451376;24512567;24623813;24778252;25015289;7581463 2177 F8WE37;H7BZJ7;Q9BXW9 ABBA01020393;ABBA01020394;ABBA01020395;ABBA01020396;AC034193;AF230336;AF273251;AF340183;AK022613;AK074406;AK307512;AL832427;AMYH02006243;AMYH02006244;AMYH02006245;AMYH02006246;BC013582;BC038666;BU617044;BX956311;CH471055;DQ341263;NG_007311;NM_001018115;NM_033084;XM_005264946;XM_005264947;XM_006713021;XM_006713022;XM_006713023;XM_006713024;XM_006713025 AAH13582;AAI56800;AAK15369;AAK18772;AAK18773;AAL05980;ABC67466;BAB14132;CAH10647;EAW64055;EAW64056;EAW64057;EAW64058;NP_001018125;NP_149075;Q9BXW9;XP_005265003;XP_005265004;XP_006713084;XP_006713085;XP_006713086;XP_006713087;XP_006713088 Hs.208388 1662885;1684866;1735314;1775076;2107077;2136854;5014051;5022651;5024039;5037552 D11S2921;D16S325;D3S2947E;D8S2278;D8S2279;FANCD2_2498;RH92698;SGC34603;SHGC-76704;SHGC-76726 DKFZp762A223;FA-D2;FA4;FACD;FAD;FAD2;FANCD;FLJ23826 Fanconi anemia group D2 protein;OTTHUMP00000158853;OTTHUMP00000207925;type 4 Fanconi pancytopenia APPROVED protein-coding ENSG00000144554 HGNC:3585 01968 227646;613984 REVIEWED 735813 FANCC Fanconi anemia, complementation group C The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008] 9 9 9 q22.3 68302367 68521048 - 97861336 98079991 - 95099054 95317709 - 1580863;1300359;1300317;1300316;2317238;2317239;6480464;7240710;8554872;8699517 15695377;16243825;8499901;8630504;8704201 10210316;10373536;10431244;10551855;10572087;10627486;10848598;10961856;11063725;11157805;11167740;11297559;11401546;11427142;11433346;11438206;11500375;11520787;11750104;11751423;11876000;11986317;12093742;12210728;12239156;12397061;12444097;12477932;12649160;12692539;12724401;12763929;12973351;1303234;14499622;14625294;15077170;15082718;15256425;15262960;15299017;15299030;15327776;15489334;15502827;15616572;15726604;1574115;16116422;16127171;16344560;1641028;16429406;16513431;16720839;17082180;17289582;17353931;17396147;17490643;17671210;17977515;18264947;18550849;18607065;18950845;18990233;19064572;19102630;19237606;19536649;19690177;19714462;19913121;20301575;20301753;20347428;20379614;20496165;20509860;20518497;20538911;20628086;20864535;20869034;21543111;21670957;21697891;21861228;21963094;21988832;22266823;22653977;22705371;23028338;24046015;24451376;7492758;7517562;7518843;8058745;8081385;8103176;8125298;8128956;8348157;8490620;8613549;8639804;8829660;8844212;9242535;9398857;9454773;9596688;9742112;9787138 2176 B1ALR7;B4E3W2;Q00597 ABBA01043622;ABBA01043623;ABBA01043624;AI280997;AK222871;AK304887;AK310599;AK312548;AL157384;AL354893;AMYH02021264;AMYH02021265;AMYH02021266;AMYH02021267;AU132608;AY220878;BC006303;BC015748;BC041030;CB052780;CH471174;DB445119;L02664;NG_011707;NM_000136;NM_001243743;NM_001243744;X66893;X66894;X83115;XM_005251802;XM_006717001;XM_006717002;XM_006717003;XM_006717004 AAA53104;AAH15748;AAO26042;ABM86348;ABW03784;BAG65624;CAA47347;CAA47348;EAW92626;EAW92627;EAW92628;EAW92629;NP_000127;NP_001230672;NP_001230673;Q00597;XP_005251859;XP_006717064;XP_006717065;XP_006717066;XP_006717067 Hs.494529 1662412;1666210;1673006;1682291;1713363;1721587;1740197;1745859;1749089;1773144;1779076;2144585;2151769;2157895;2160293;2174842;5022651;5120207 203WH8;D11S2921;D16S2944;D9S1775;D9S1958;G59803;GDB:207703;GDB:677129;RH119536;RH98839;SGC35427;SGC44362;SHGC-110746;STS-H94332;STS-X66893;U57800;WI-11677;WI-18181 FA3;FAC;FACC;FLJ14675 Fanconi anemia group C protein;OTTHUMP00000021706;OTTHUMP00000021707;bA80I15.1 (Fanconi anemia, complementation group C, protein) APPROVED protein-coding ENSG00000158169 HGNC:3584 01967 227645;613899 REVIEWED 1322810 FANCA Fanconi anemia, complementation group A The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 74868202 74947293 - 89803959 89883066 - 89737551 89816658 - 1580863;2317735;6480464;7240710;8554872;8699517 15591268 10094191;10210316;10373536;10468603;10468606;10521298;10551855;10567393;10600472;10627486;10652215;10807541;10936049;10936108;10961856;11050007;11063725;11091222;11157805;11161829;11167740;11181053;11297559;11344308;11401546;11438206;11726552;11739169;11750104;11855836;12031647;12093742;12210728;12239156;12354784;12384774;12444097;12477932;12571280;12637330;12649160;12692539;12724401;12973351;14499622;14630800;14697762;14749703;15059067;15082718;15138265;15192709;15256425;15262960;15299017;15299030;15367677;15489334;15502827;15790592;15860134;15917947;16116422;16116434;16189514;16474167;16621732;16720839;16751776;16946016;17082180;17289582;17396147;17474147;17671210;18056155;18174376;18212739;18224251;18270339;18285517;18457264;18550849;18676680;18950845;19012493;19015634;19064572;19109555;19170196;19237606;19491337;19625176;19690177;19692168;19714462;19779646;19913121;19995904;20064461;20301575;20301753;20347428;20347429;20425471;20450923;20453000;20496165;20518497;20585627;20628086;20800603;20864535;20937699;21109493;21139048;21236561;21240188;21273304;21490707;21890473;21906983;21963094;21975120;22194614;22266823;22396592;22505724;22561518;22705371;23021409;23067021;23824729;23898106;24046015;24250222;24349332;24356203;24451376;24486548;24704046;24910428;7581462;8755924;8896563;9169126;9371798;9382107;9398857;9399890;9711872;9721219;9742112;9789045;9929978 2175 F5H8D5;H3BM41;H3BNS0;H3BQU1;H3BQU6;H3BQW7;H3BQX1;H3BRX3;H3BS03;H3BS84;H3BSA3;H3BSI9;H3BSL6;H3BT32;H3BT40;H3BT53;H3BUI1;H3BV66;O15360;Q0VAP4;Q86U55 ABBA01014131;ABBA01014132;ABBA01014133;ABBA01014134;AC005360;AC005565;AC005567;AC092385;AF054569;AJ131189;AJ131190;AJ225084;AJ225085;AK299282;AK301168;AMYH02032680;AMYH02032681;AMYH02032682;AMYH02032683;AY598423;BC008979;BC022498;BC064540;BC120978;BC120979;BC127633;BC141971;BC141972;BT007366;CH471184;DQ574346;KF456225;NG_011706;NM_000135;NM_001018112;NM_001286167;X99226;XM_005256294;XM_006721167;XM_006721168;Z83067 AAC28331;AAC28751;AAC33304;AAC33401;AAH08979;AAH64540;AAI20979;AAI20980;AAI27634;AAI41972;AAI41973;AAI56523;AAI72515;AAP36030;AAS99350;BAG61299;BAH13420;CAA12393;CAA12394;CAA67610;CAB05445;CAB46099;CAB46100;EAW66685;EAW66686;NP_000126;NP_001018122;NP_001273096;O15360;XP_005256351;XP_006721230;XP_006721231 Hs.744083 1793864;1794634;1795812;1851516;2124497;5019062 FANCA_1338;G44297;PMC30172P1;PMC33282P1;SHGC-60782;SHGC-61164 FA;FA-H;FA1;FAA;FACA;FAH;FANCH;MGC75158 Fanconi anemia group A protein;Fanconi anemia, complementation group H;Fanconi anemia, type 1 APPROVED protein-coding ENSG00000187741 HGNC:3582 06186 227650;607139 REVIEWED 1350702 FANCG Fanconi anemia, complementation group G The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008] 9 9 9 p13 35005802 35011980 - 35073833 35080043 - 35073838 35080016 - 1580863;1599879;2317238;6480464;7240710;8699517;8554872 16243825;9806548 10373536;10468603;10468606;10567393;10627486;10652215;10807541;10961856;11050007;11063725;11093276;11157805;11161829;11167740;11181053;11297559;11401546;11438206;11739169;11750104;11756225;11918676;12093742;12210728;12239156;12432219;12444097;12477932;12552564;12649160;12692539;12724401;12861027;12915460;12973351;14499622;14697762;15059067;15082718;15138265;15164053;15192709;15256425;15262960;15299017;15299030;15319283;15367677;15489334;15502827;15657175;16116422;16189514;16195237;16474167;16609022;16621732;16720839;17010390;17060495;17082180;17289582;17396147;17671210;18174376;18212739;18550849;18950845;19064572;19102630;19109555;19237606;19339270;19447967;19536092;19536649;19690177;19861517;19913121;19995904;20301575;20301753;20347428;20347429;20403997;20450923;20496165;20518486;20518497;20603015;20628086;21139048;21750350;21890473;21906983;21963094;21975120;21987572;22705371;23067021;24300640;24451376;24910428;9256465;9382107 2189 C9JSE3;F8WC08;O15287;Q53XM5 ABBA01064998;AC004472;AJ007669;AK293427;AK311348;AK312987;AL353795;AMYH02019455;AY795970;BC000032;BC011623;BT009813;CH471071;NG_007312;NM_004629;U70310 AAB80802;AAC07981;AAH00032;AAH11623;AAP88815;AAV40841;ABM83092;ABM86286;BAG35824;BAG56932;CAA07602;EAW58401;EAW58402;NP_004620;O15287 Hs.591084 1644177;1699688;2115396;2217316 A002I21;FANCG_2802;RH103449;RH15902 FAG;XRCC9 DNA repair protein XRCC9;Fanconi anemia group G protein;OTTHUMP00000021319;X-ray repair complementing defective repair in Chinese hamster cells 9;X-ray repair, complementing defective, in Chinese hamster, 9 APPROVED protein-coding ENSG00000221829 HGNC:3588 04262 602956;614082 REVIEWED 1604829 FAN1 FANCD2/FANCI-associated nuclease 1 This gene encodes a member of the myotubularin-related class 1 cysteine-based protein tyrosine phosphatases. The encoded protein may be catalytically inactive. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2009] 15 15 15 q13.2-q13.3 8921590 8960771 + 31191703 31235311 + 30832893 30943108 + 6480464;8699517;7240710;8554872 10231032;12477932;15186772;15342556;16344560;17148452;20603015;20603016;20603073;20671156;20935496;21115814;21693764;21858661;22611161;22772369;22854063;23505323;24344280;24722188 22909 H3BQ24;H3BUK3;Q9Y2M0 AB023235;ABBA01038321;ABBA01038322;AC004460;AC087481;AC243758;AC244012;AK290987;BC044890;BC047882;BP310263;BX647391;CH471216;CR936727;CR936734;DA841207;HG506830;HM560957;KF454901;KJ534972;KJ534973;KJ535046;NG_032946;NM_001146094;NM_001146095;NM_001146096;NM_014967;XM_005254232;XM_005254233;XM_005254234;XM_005254235;XM_005254236;XM_006725537;XM_006725538;XM_006725539;XM_006725540;XM_006725541 AAH47882;ACE86680;ADK11100;AHW56612;AHW56613;AHW56685;BAA76862;BAF83676;EAW61257;NP_001139566;NP_001139567;NP_001139568;NP_055782;Q9Y2M0;XP_005254289;XP_005254290;XP_005254291;XP_005254292;XP_005254293;XP_006725600;XP_006725601;XP_006725602;XP_006725603;XP_006725604 Hs.584863 1663427;1686632;1693640;1694464;1722085;1851763;2131149;2161106 G42953;G60084;NIB2035;RH64897;RH80621;SHGC-58554;WI-11934;WI-19599 DKFZp451H236;DKFZp686K16147;KIAA1018;KMIN;MTMR15;RP11-540B6.6 coiled-coil domain-containing protein MTMR15;fanconi anemia associated nuclease 1;fanconi-associated nuclease 1;myotubularin related protein 15;myotubularin-related protein 15 APPROVED protein-coding ENSG00000198690 HGNC:29170 17205 613534;614817 REVIEWED 1345063 FANCF Fanconi anemia, complementation group F The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008] 11 11 11 p15 22777941 22781250 - 22644079 22647387 - 22622533 22625841 - 1580863;1598925;2290045;2290044;2298507;2298508;6480464;7240710;8554872;8699517 10615118;15126331;15574200;16418574;18414472 11063725;11157805;11750104;12093742;12239156;12444097;12477932;12649160;12724401;12973351;14647419;14702039;15082718;15124103;15262960;15489334;15502827;16116422;16127171;16169070;16474167;16621732;16712791;16720839;17082180;17289582;17396147;17932744;18212739;18550849;18950845;19064572;19102630;19536649;19690177;19801548;19813073;20064461;20301575;20301753;20347428;20347429;20450923;20496165;21109493;21906983;22705371;23440494;24910428;8125298;9382107 2188 A3KME0;Q9NPI8 ABBA01061015;AC103801;AF181994;AF181995;AK001716;AK023153;AK223277;AMYH02024434;AY928335;BC047028;BC063038;BC093867;BC101807;BI522448;BX640996;CB157038;CH471064;NG_007425;NM_022725 AAF26297;AAF26298;AAH47028;AAH63038;AAH93867;AAI01808;AAX09677;BAB14433;BAD96997;BAG50967;CAE45999;EAW68319;NP_073562;Q9NPI8 Hs.632151 1673591;1774425;1777559;2181937;5015619;5492879 D11S3114;D11S4279;RH12721;RH78226;UniSTS:483136;WI-13404 FAF;MGC126856 Fanconi anemia group F protein;OTTHUMP00000231845 APPROVED protein-coding HGNC:3587 04589 603467;613897 REVIEWED 1312384 FANK1 fibronectin type III and ankyrin repeat domains 1 FOUND IN nucleus; INTERACTS WITH all-trans-retinoic acid; trichostatin A; 17alpha-ethynylestradiol (ortholog) 10 10 10 q26.2 121360544 121473605 + 127585108 127698161 + 125896539 126009592 + 737633;6480464 12477932 12975309;14702039;15489334;17604233;18029348;18682798;19240061;20211142;20379614;20978819;22589738 92565 A6NH44;A6NKD7;A6NP17;B7Z939;C9JD80;F6QMK1;H7C3M3;Q8TC84 ABBA01034174;AC063963;AK021437;AL360176;AMYH02023998;AY251163;AY358154;BC024189;BQ225468;CH471066;CR627249;NM_145235;XM_005270280;XM_006718058;XM_006718059;XM_006718060;XM_006718061;XM_006718062;XM_006718063;XM_006718064;XM_006718065;XM_006718066;XM_006718067;XM_006718068;XM_006718069;XM_006718070;XM_006718071;XM_006718072 AAH24189;AAP20060;AAQ88521;EAW49211;EAW49212;EAW49213;EAW49214;NP_660278;Q8TC84;XP_005270337;XP_006718121;XP_006718122;XP_006718123;XP_006718124;XP_006718125;XP_006718126;XP_006718127;XP_006718128;XP_006718129;XP_006718130;XP_006718131;XP_006718132;XP_006718133;XP_006718134;XP_006718135 Hs.352591 1732111;1767329;1779406;1947262;2123007;2141446;2141546;2158415;2172798 D14S943;D21S1278;G18008;GDB:312730;REN44476;RH46156;SHGC-153394;SHGC-53755;WI-4721 HSD13 1700007B22Rik;OTTHUMP00000020720;fibronectin type 3 and ankyrin repeat domains 1;fibronectin type 3 and ankyrin repeat domains protein 1 protein-coding ENSG00000203780 HGNC:23527 09945 611640 VALIDATED 7243018 FANK1-AS1 FANK1 antisense RNA 1 10 10 q26.2 127660757 127661842 - 125972188 125973273 - 101410540 ABBA01034174;AC063963;AMYH02023998;AW080472;HG503352;NR_102707 Hs.557889 RP11-295J3.2 ncrna ENSG00000233409 HGNC:43915 VALIDATED 1605380 FANCI Fanconi anemia, complementation group I The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 66188469 66261721 + 89785634 89860362 + 89243963 89317131 + 6480464;7240710;8554872;8699517 11347906;12477932;14630800;14702039;15146197;15199141;15489334;16964243;17353931;17412408;17452773;17460694;17478428;18029348;18082604;18931676;19111657;19465922;19471022;19536649;19561358;19589784;19615732;19737859;19946888;19995904;20301575;20562859;20603015;20671156;20971953;21139048;21145461;21252943;21355096;21415862;21693764;21775430;21832049;21890473;21896657;21906983;21963094;21987572;22053931;22287633;22505724;22586326;22678362;22797925;22855611;22863883;23000965;23383273;23443559;23455922;24451376;24623813;24816145;25015289;25036637 55215 B3KNW8;F8W7R3;H3BMG4;H3BN35;H3BP78;H3BQE2;H3BS60;H3BT54;Q9NVI1 AB058697;ABBA01053007;AC124068;AK001581;AK027564;AK055176;AMYH02031018;BC004277;BC021859;BC140769;BC144483;BC146804;BM461935;BQ050477;BU187299;CH471101;CN365698;EF469766;EF567077;KF459561;NG_011736;NM_001113378;NM_018193 AAH04277;AAI40770;AAI44484;AAI66621;ABP88002;ABQ63084;BAA91770;BAB47423;BAB55200;BAG51480;EAX02039;EAX02040;EAX02041;EAX02042;EAX02043;EAX02044;NP_001106849;NP_060663;Q9NVI1 Hs.513126 1767839;1775486;1789927;1794342;2112934;2112980;2112984;2122034;2162050;2168462;2191791;5094845 D15S1387;D15S1449E;D15S1452E;D15S736;MARC_7859-7860:996688105:3;PMC311040P10;POLG;RH66025;RH67845;RH68306;RH77770;csnppolg-pcr23-1 FLJ10719;KIAA1794 Fanconi anemia group I protein;OTTHUMP00000163943 APPROVED protein-coding ENSG00000140525 HGNC:25568 13339 609053;611360 REVIEWED 5129243 FAR1P1 fatty acyl CoA reductase 1 pseudogene 1 13 13 13 q31.3 71668564 71669608 + 90823117 90824161 + 90170863 90171907 + 100128011 ABBA01027252;AL354915;AMYH02028459;NG_021972 pseudo HGNC:39675 INFERRED 1322885 FANCL Fanconi anemia, complementation group L The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 2 p16.1 58229548 58311691 - 58386378 58468515 - 58159243 58241381 - 1580863;6480464;6907045;7240710;8699517;8554872 12417526;12477932;12574169;12606378;12724401;12973351;14702039;15489334;15502827;15761153;15815621;16116422;16344560;16474167;16720839;16916645;17106252;17289582;17396147;17938197;18174376;18270339;18285517;18550849;18607065;19111657;19589784;19690177;19737859;20301575;20301753;20347428;20347429;20407210;20935630;20937699;21229326;21297076;21543111;21697891;21775430;21906983;21963094;21975120;22287633;22653977;22705371;22797925;22828653;23563607;23783032;24250222;24389026;24623813;24910428;8125298 55120 B4DN24;B5MC31;B5MCZ6;C9J512;C9JPN7;C9JZA9;H7C1M0;Q9NW38 ABBA01075308;AC007250;AK001197;AK225147;AK297736;AK309671;AL036481;AMYH02003887;AMYH02003888;AMYH02003889;BC009042;BC037570;BC041627;BC054517;BQ574618;CH471053;DB032206;NG_007418;NM_001114636;NM_018062;XM_005264395;XM_005264397;XM_006712038;XR_426986 AAH09042;AAH54517;AAY15020;BAA91548;BAG60086;EAX00056;EAX00057;EAX00058;EAX00059;EAX00060;EAX00061;NP_001108108;NP_060532;Q9NW38;XP_005264452;XP_005264454;XP_006712101 Hs.631890 1644000;1648059;1695020;1734764;2107079;2125989;2140251 D2S1547E;D2S2913;FANCL__7636;G44723;RH78793;SHGC-35879;WI-18292 FAAP43;FLJ10335;PHF9;POG E3 ubiquitin-protein ligase FANCL;OTTHUMP00000159703;OTTHUMP00000201190;OTTHUMP00000201191;OTTHUMP00000201192;OTTHUMP00000201194;OTTHUMP00000201196;PHD finger protein 9;fanconi anemia group L protein;fanconi anemia-associated polypeptide of 43 kDa APPROVED protein-coding ENSG00000115392 HGNC:20748 06997 608111;614083 REVIEWED 1344680 FAR2 fatty acyl CoA reductase 2 This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012] 12 12 12 p11.22 34522215 34632754 + 29301936 29488549 + 29149003 29335616 + 737633;6480464;8554872 12477932 11230166;14702039;15220348;15220349;15489334;16344560;16756494;19027726;20379614;21890473;22139419;22797925 55711 B2RBI0;F8VPF2;F8VX60;H0YHP1;H0YIE0;Q96K12;Q9NUX8 ABBA01068068;ABBA01068069;ABBA01068070;ABBA01068071;ABBA01068072;AC009318;AC012150;AK001324;AK001927;AK027756;AK129857;AK314670;AL136843;AMYH02026259;BC022267;CB217408;CH471094;DA068892;DA848036;NM_001271783;NM_001271784;NM_018099 AAH22267;BAA91625;BAA91983;BAB55347;BAG37227;CAB66777;EAW96586;EAW96587;NP_001258712;NP_001258713;NP_060569;Q96K12 Hs.728955;Hs.744741 1649271;1672180;1677560;1726119;2132272;2176276 G62239;RH94141;SHGC-35864;STS-AA005136;WI-13845;WI-14934 FLJ10462;MLSTD1;SDR10E2 OTTHUMP00000240783;OTTHUMP00000240784;OTTHUMP00000240785;fatty acyl-CoA reductase 2;male sterility domain containing 1;male sterility domain-containing protein 1;short chain dehydrogenase/reductase family 10E, member 2 protein-coding ENSG00000064763 HGNC:25531 14723 REVIEWED 1317358 FANCM Fanconi anemia, complementation group M The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. [provided by RefSeq, Jul 2008] 14 14 14 q21.2 25466389 25531345 + 45605136 45670093 + 45135933 45200890 + 6480464;7240710;8699517;8554872 10997877;12477932;14702039;15489334;15561718;16116422;16116434;16720839;17289582;17396147;18174376;18206976;18285517;18976975;18995830;19270156;19423727;19536649;19690177;19737859;19913121;20010692;20064461;20160754;20301575;20301753;20347428;20347429;20628086;20670894;21139048;21832049;21975120;22017875;22279085;22392978;22510687;22696213;22705371;22990118;23333308;23698467;23932590;24003026;24207054;24451376;24910428 57697 H0YJ14;H0YJ45;H0YJN7;H0YJS3;Q8IYD8 AB046816;ABBA01018051;ABBA01018052;AK001672;AK093422;AL121809;AL833656;AMYH02029102;BC036056;BC140776;BC144511;BX500546;CH471078;DQ140356;KF455873;NG_007417;NM_020937;XM_005267929 AAH36056;AAI40777;AAI44512;AAI56491;AAZ53290;ADZ15326;BAB13422;BAC04159;EAW65781;EAW65782;EAW65783;EAW65784;NP_065988;Q8IYD8;XP_005267986 Hs.509229 1670935;1688763;2136415;2157132;2162773 G35375;G35560;G35743;G36291;RH92154 FAAP250;KIAA1596;MGC176453 ATP-dependent RNA helicase FANCM;Fanconi anemia group M protein;OTTHUMP00000244461;OTTHUMP00000244462;OTTHUMP00000244463;fanconi anemia-associated polypeptide of 250 kDa;protein Hef ortholog APPROVED protein-coding ENSG00000187790 HGNC:23168 13876 609644;614087 REVIEWED 1354425 FANCE Fanconi anemia, complementation group E The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008] 6 6 6 p22-p21 36974117 36988860 + 35420116 35434918 + 35452339 35467141 + 1580863;1598924;6480464;7240710;8554872;8699517 11001585 10205272;11157805;12093742;12239156;12477932;12649160;12724401;12973351;14574404;14625294;15082718;15115758;15199141;15262960;15489334;15502827;16116422;16116434;16127171;16513431;17082180;17289582;17296736;17308347;17396147;18285517;18550849;18950845;19064572;19322201;19536649;19690177;19704162;19714462;20064461;20301575;20301753;20347428;20360068;20496165;20800603;20937699;21890473;21906983;22266823;22705371;23284291;24451376;24816145;7662964;9147877;9382107 2178 Q9HB96 ABBA01038233;ABBA01038234;AF265210;AK292522;AK312617;AL022721;AMYH02013541;BC046359;CH471081;DQ020173;NG_011708;NM_021922;XM_005248885;XM_005248886;XM_005248887;XM_005248888 AAG16743;AAH46359;AAY26395;BAF85211;EAX03830;NP_068741;Q9HB96;XP_005248942;XP_005248943;XP_005248944;XP_005248945 Hs.302003 1795814;5022578 D1S1423;FANCE_1493 FACE;FAE Fanconi anemia group E protein;OTTHUMP00000016254 APPROVED protein-coding ENSG00000112039 HGNC:3586 02943 600901;613976 REVIEWED 1315381 FAR1 fatty acyl CoA reductase 1 ENCODES a protein that exhibits fatty-acyl-CoA reductase (alcohol-forming) activity; INVOLVED IN ether lipid biosynthetic process; glycerophospholipid biosynthetic process; long-chain fatty-acyl-CoA metabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN peroxisomal membrane; peroxisome; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; copper atom 11 11 11 p15.2 13815947 13879631 + 13690206 13753893 + 13668659 13732346 + 737633;6480464;8554872 12477932 12975309;14702039;15220348;15220349;15489334;16344560;16396496;16756494;17353931;18781797;19027726;20071337;21139048;21145461;21525035;21565611;21890473;21906983;21963094;21987572;22797925;23000965;23275563;23464991;24108123;24816145 84188 E9PNW8;E9PPB8;Q8WVX9 ABBA01061120;ABBA01061121;AC013828;AC026843;AF086349;AK024967;AK026381;AK090880;AK315527;AL713674;AMYH02024350;AY358784;AY423606;AY600449;BC017377;BX648892;CH471064;CR936619;DA515509;NM_032228 AAH17377;AAQ89144;AAR84086;AAT42129;BAB15467;BAG37908;CAI56762;EAW68491;EAW68492;EAW68493;NP_115604;Q8WVX9 Hs.501991 1739933;2179785;2219934;5126090 D11S4062;MLSTD2__6323;RH68662;STS-N63551 DKFZp686A0370;DKFZp686P18247;FLJ22728;FLJ33561;MLSTD2;SDR10E1 OTTHUMP00000230853;OTTHUMP00000235297;fatty acyl-CoA reductase 1;male sterility domain containing 2;male sterility domain-containing protein 2;putative fatty acyl reductase;short chain dehydrogenase/reductase family 10E, member 1 protein-coding ENSG00000197601 HGNC:26222 14724 VALIDATED 7373904 FAR2P3 fatty acyl CoA reductase 2 pseudogene 3 2 2 q21.1 131446926 131476416 + 130689353 130718843 + 100288897 ABBA01019371;AC140481;AMYH02004798;XR_132701;XR_244852;XR_244854;XR_249206;XR_251175;XR_251176;XR_425471;XR_427169;XR_427170;XR_427171 ncrna HGNC:49285 MODEL 6481287 FARP1-AS1 FARP1 antisense RNA 1 q32.2 100874080 AL137249 APPROVED ncrna HGNC:40229 7384531 FAR2P2 fatty acyl CoA reductase 2 pseudogene 2 2 2 q21.1 131174323 131186119 - 130416750 130428546 - 12477932;14702039;15146197;16344560;8889548 100216479 ABBA01017959;AC132479;AK054990;AL704735;AMYH02004775;BC131487;BM678458;CN315133;DA065395;DA416892;DA522902;DA866260;NR_046258;NR_046259;NR_046260 Hs.131740 ncrna HGNC:49279 VALIDATED 1606362 FAR2P1 fatty acyl CoA reductase 2 pseudogene 1 ENCODES a protein that exhibits fatty-acyl-CoA reductase (alcohol-forming) activity (inferred); INVOLVED IN oxidation-reduction process (inferred) 2 2 2 q21.1 124094302 124103543 - 130783571 130808704 - 130025998 130051131 - 12477932;25085781 440905 Q6ZU82 ABBA01040139;ABBA01040140;AC018865;AC079776;AK125921;AMYH02004770;BC132694;BC132696;BC144438;CH471103;NR_026758 AAI44439;BAC86344;EAW95363;Q6ZU82 Hs.469918 5117222 GDB:451839 APPROVED ncrna ENSG00000180178 HGNC:49284 18454 PREDICTED 732069 FAP fibroblast activation protein, alpha The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014] 2 2 2 q23 156637516 156710361 - 163027194 163100045 - 162170690 162243535 - 1580863;6480464;8554872 10455171;10593948;10644713;12023964;12028401;12376466;12477932;12675244;12926053;12963128;14524536;14702039;14707457;15489334;15767544;15809306;16061874;16175601;16196122;16223769;16335952;16410248;16480718;16507127;16651416;16700525;17317851;18071670;18095711;18570153;18665076;18823010;19747910;19817894;20043068;20155839;20379614;20711172;20806341;20872224;21314817;21491083;21526345;21668992;22067528;22323494;22371645;22435331;22608558;22614695;22674411;22734237;22750443;22911669;22939629;23328994;23778090;23813624;23835897;24028972;24422232;24717288;24727589;7519584;7774951;7911242;9065413;9247085;9688278 2191 B4DLR2;C9J131;F8WF29;H0YG61;H7C4D9;Q12884 ABBA01004891;AC007750;AK055327;AK297118;AK309260;AK310293;AK315448;AL832166;AMYH02005094;BC026250;CH471058;NG_027991;NM_001291807;NM_004460;U09278;U76833 AAB49652;AAC51668;AAH26250;AAY24205;ABM82349;ABM85523;BAG37836;BAG59624;EAX11353;EAX11354;NP_001278736;NP_004451;Q12884 Hs.654370 1645358;1728993;1754057;2108085 FAP_8340;Fap;SHGC-12594;SHGC-132096 DKFZp686G13158;DPPIV;FAPA 170 kDa melanoma membrane-bound gelatinase;OTTHUMP00000204566;OTTHUMP00000207304;fibroblast activation protein;integral membrane serine protease;seprase APPROVED protein-coding ENSG00000078098 HGNC:3590 02674 600403 REVIEWED 7368705 FAR2P4 fatty acyl CoA reductase 2 pseudogene 4 2 2 132054397 132066642 + 131296824 131309069 + 100420005 ABBA01028239;AC131180;AMYH02004808;NG_023727 pseudo HGNC:49286 INFERRED 1313320 FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] 13 13 13 q32.2 79642528 79949414 + 98794893 99102023 + 98142562 98449773 + 1580863;6480464;8554872 11076863;12477932;14702039;15057823;15489334;15489336;16341674;16381901;19217374;19322201;19389623;19475631;20171287;20379614;20708005;21116278;21139048;21906983;22952603;23209303;23251661;23375260;23793025;9425278 10160 C9JME2;H0Y783;M0QXT1;M0QYB0;M0R262;Q9Y4F1 AB008430;ABBA01027142;ABBA01027143;ABBA01027144;ABBA01027145;ABBA01027146;ABBA01027147;ABBA01027148;ABBA01027149;ABBA01027150;AI273567;AI274149;AI381545;AK095747;AK123565;AL136300;AL137249;AL161896;AL445223;AMYH02028566;AMYH02028567;AMYH02028568;AMYH02028569;AMYH02028570;AMYH02028571;AMYH02028572;AMYH02028573;AMYH02028574;AW270133;AW514534;BC041595;BC053593;BC065020;BC071592;BE463494;BM763139;BQ014327;BX115123;BX647479;CF994038;CH471085;DB498534;KF455815;NM_001001715;NM_001286839;NM_005766;XM_006719913 AAH41595;AAH71592;BAA24267;CAL38058;CAL38095;CAL38331;EAX08982;NP_001001715;NP_001273768;NP_005757;Q9Y4F1;XP_006719976 Hs.403917;Hs.709933;Hs.729583 1338880;1339250;1644161;1651321;1666330;1679489;1680383;1689680;1697362;1712152;1717607;1722291;1736360;1736368;1738413;1738419;1738429;1750039;1766401;1767409;1773550;1782892;1850464;1853909;1856928;2109297;2111652;2111718;2113324;2120303;2138946;2141865;2150777;2155701;2159748;2162392;2164237;2178522;2185979;5015619;5015961;5022578;5037552;5091419;7184733;7185243;7186320 A006I40;AFM210wb6;D11S3114;D13S1167;D13S1192;D13S128;D13S1298;D13S1378;D13S1579;D13S159;D13S1625;D13S1723;D13S671E;D13S674E;D13S680E;D13S843E;D13S868E;D13S871E;D13S896;D15S1477;D1S1423;D8S2279;FARP1_9051;G09892;G54126;G60059;HSC02G012;NIB529;RH102179;RH122108;RH44997;RH47601;RH79725;RH92898;RH93030;SHGC-111725;SHGC-149744;SHGC-154508;STS-AA007218;STS-H78565;WI-10746;WI-11272;WI-14178;WI-17161 CDEP;FARP1-IT1;MGC87400;PLEKHC2;PPP1R75 FERM, RhoGEF and pleckstrin domain-containing protein 1;OTTHUMP00000018588;OTTHUMP00000018591;PH domain-containing family C member 2;chondrocyte-derived ezrin-like protein;pleckstrin homology domain-containing family C member 2;protein phosphatase 1, regulatory subunit 75 APPROVED protein-coding ENSG00000152767 HGNC:3591 602654 REVIEWED 7240977 FARSBP1 phenylalanyl-tRNA synthetase, beta subunit pseudogene 1 10 10 10 q23.1 76529274 76531307 - 82535800 82537833 - 80776044 80778077 - 647532 ABBA01003789;AC027673;AMYH02023424;NG_005861 pseudo HGNC:45115 INFERRED 1342814 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a phenylalanine-tRNA synthetase (PheRS) localized to the mitochondrion which consists of a single polypeptide chain, unlike the (alpha-beta)2 structure of the prokaryotic and eukaryotic cytoplasmic forms of PheRS. Structure analysis and catalytic properties indicate mitochondrial PheRSs may constitute a class of PheRS distinct from the enzymes found in prokaryotes and in the eukaryotic cytoplasm. [provided by RefSeq, Jul 2008] 6 6 6 p25.1 6488372 6998947 + 5261251 5771816 + 5261018 5771583 + 6480464;8554872;7240710 10329163;11329013;12477932;14574404;15146197;15489334;16009940;17768348;18611382;19193993;19549855;19615732;19737557;19913121;20186120;20379614;20628086;20877624;21145461;21601574;21998595;22833457;23563609;24654937;8125298 10667 O95363;Q5JRF7;R4GMX6 ABBA01022008;ABBA01022009;ABBA01022010;AF097441;AF161438;AI338405;AK223423;AK312454;AL021328;AL022097;AL121978;AL133473;AL392184;AL590868;AMYH02013031;AMYH02013032;AMYH02013033;AMYH02013034;AMYH02013035;AMYH02013036;AMYH02013037;AMYH02013038;BC020239;BC021112;BE792999;BG212473;BI761156;CH471087;CN292346;CR542279;CR591198;KF458079;KF458080;KF458081;KF458089;KF458091;NG_033003;NM_006567;XM_005248811;XM_005248812;XM_005248813;XM_005248814;XM_006714966 AAC83802;AAF28998;AAH20239;AAH21112;BAD97143;BAG35361;CAG47075;EAW55179;NP_006558;O95363;XP_005248868;XP_005248869;XP_005248870;XP_005248871;XP_006715029 Hs.484547 1706772;1708212;1711086;1711240;1716023;1720485;1727277;1739087;1751195;1754095;1762805;1848565;2124625;2149884;2160864;2165791;5126171 A003M42;D6S1355;D6S1466;D6S2120;G59196;G63044;RH122219;RH36257;RH46741;SHGC-105068;SHGC-132132;SHGC-146584;SHGC-56759;SHGC-79364;SHGC-80854;SHGC-84977;SHGC-86182 COXPD14;FARS1;HSPC320;PheRS;dJ520B18.2 OTTHUMP00000015986;dJ236A3.1 (phenylalanine-tRNA synthetase);dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase));phenylalanine tRNA ligase 2, mitochondrial;phenylalanine translase;phenylalanine--tRNA ligase;phenylalanine--tRNA ligase, mitochondrial;phenylalanine-tRNA synthetase 1 (mitochondrial);phenylalanine-tRNA synthetase 2 (mitochondrial);phenylalanyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000145982 HGNC:21062 09946 611592;614946 REVIEWED 2312692 FAS-AS1 FAS antisense RNA 1 10 10 10 q24.1 84497966 84499519 - 90751179 90752732 - 88991422 88992975 - 15829500;24811343 100302740 ABBA01021950;AL157394;AMYH02023507;NG_009089;NR_028371 Hs.244139 1789048;2166095 G65659;SHGC-30908 FAS-AS;FLJ36021;SAF FASAS APPROVED ncrna HGNC:37128 VALIDATED 5130484 FARP1-IT1 FARP1 intronic transcript 1 (non-protein coding) 13 q32.2 98980972 98985492 + 101060526 AI381545;AL161896;AW270133;BX115123;XR_172014;XR_172015 Hs.729583 1697362 RH102179 ncrna HGNC:39810 1321146 FARSA phenylalanyl-tRNA synthetase, alpha subunit Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008] 19 19 19 p13.2 12923020 12934291 - 13033284 13044558 - 12922470 12933744 - 1580863;6480464 10049785;11829477;11858721;12477932;12665801;14702039;15057824;15489334;16169070;16196087;17110338;18029348;19165527;19615732;19946888;21139048;21145461;21163940;21693764;21890473;21903422;21906983;21963094;21987572;21988832;22268729;22505724;22797925;22863883;22939629;23222517;23398456;24324551;24337577;24550385;24583282;24654937;24816145;9177188 2193 K7EK06;K7EPH2;K7ER00;K7ER16;K7ERS0;Q6IBR2;Q9Y285 ABBA01029763;AC092069;AD000092;AF042347;AK092093;AK130195;AK304587;AMYH02035560;BC006495;BC035438;BC043565;BG284015;BT007198;CH471106;CR456740;D84471;NM_004461;U07424 AAB51175;AAB61694;AAD02221;AAH06495;AAH43565;AAP35862;ABM81671;ABM84841;BAA95666;BAG52481;BAG65375;CAG33021;EAW84328;EAW84329;NP_004452;Q9Y285 Hs.23111 1678775;1773012;5107751 RH46987;RH70803;RH98885 CML33;FARSL;FRSA;pheRS FARSLA;PheHA;phenylalanine tRNA ligase 1, alpha, cytoplasmic;phenylalanine--tRNA ligase alpha chain;phenylalanine--tRNA ligase alpha subunit;phenylalanine-tRNA synthetase alpha-subunit;phenylalanine-tRNA synthetase-like, alpha subunit;phenylalanyl-tRNA synthetase alpha chain;phenylalanyl-tRNA synthetase alpha subunit;phenylalanyl-tRNA synthetase-like, alpha subunit APPROVED protein-coding ENSG00000179115 HGNC:3592 04227 602918 VALIDATED 1346266 FAS Fas cell surface death receptor The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011] 10 10 10 q24.1 84497075 84522333 + 90750288 90775542 + 88969796 89017059 + 1600310;1600348;1600350;1600351;1600352;1600312;1600333;1600334;1600355;1600356;1600357;1600354;1626509;2290049;2290063;2290132;2290176;2290131;2289639;2290050;2290077;2290283;2290284;2290058;2290177;2290084;2290099;2290048;2290133;2290054;2290130;2290046;2290047;2290053;2290175;2290075;2315733;2311437;2315742;2315753;2315757;2298509;2314002;2312739;2314021;2315698;2315705;2315707;2315754;4143196;6480464;6484113;6907045;7240710;7248688;8663480;8662433;8662436;8662445;8686422;8663486;8662409;8662435;8662886;8662442;8663485;8662425;8662820;8686428;8699517;8662416;8663479;8686420;8662437;8663481;8662811;8662900;8663476;8662824;8662928;8662852;8662407;8663469;8686423;8686424;1582444;8662440;8662451;8662410;8662418;8662853;8662930;8662412;8662430;8662854;8554872;8662438;8662911;8663460;8662455 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355 H7C5Z8;P25445;Q59FU8 AB209361;ABBA01021950;AF061978;AJ279011;AJ279012;AJ279013;AJ509179;AJ509180;AJ509181;AJ509182;AK026195;AK290978;AK311164;AK311424;AK311499;AL157394;AMYH02023507;AY450925;AY495076;BC012479;CH471066;CR450307;D31968;DA759225;DB284727;EU481974;FJ200481;FJ373045;FJ373046;FM246457;FM246458;FM246459;HG503127;M67454;NG_009089;NM_000043;NM_152871;NM_152872;NR_028033;NR_028034;NR_028035;NR_028036;S78781;X63717;X83490;X83491;X83492;X83493;X89101;XM_006717819;Z47993;Z47994;Z47995;Z66556;Z70519;Z70520 AAA63174;AAC16237;AAD14292;AAH12479;AAR08906;AAS76663;ABM85601;ACC91884;ACO54878;ACP28876;ACP28877;BAA20850;BAD92598;BAF83667;CAA45250;CAA61473;CAA88031;CAA88032;CAA88033;CAA94430;CAA94431;CAC35539;CAC35540;CAC35541;CAD48929;CAD48930;CAD48931;CAD48932;CAG29303;CAR92543;CAR92544;EAW50147;EAW50148;EAW50149;EAW50150;EAW50151;EAW50152;NP_000034;NP_690610;NP_690611;P25445;XP_006717882 Hs.244139;Hs.667309 1657299;1668449;1684916;1789048;1790077;1790079;1790081;1790083;1790085;1790087;1790089;1790091;1795064;1796974;2166095;5015885;5118065;5118073;5118075;5120624;5120626 D10S2281;G65659;GDB:362780;GDB:362783;GDB:362785;GDB:681362;GDB:682143;GDB:682147;PMC96480P1;RH11007;RH91808;SHGC-30908;TNFRSF6_1709;csnptnfrsf6-pcr2-1;csnptnfrsf6-pcr3-1;csnptnfrsf6-pcr4-1;csnptnfrsf6-pcr5-1;csnptnfrsf6-pcr6-1;csnptnfrsf6-pcr7-1;csnptnfrsf6-pcr8-1;csnptnfrsf6-pcr9-1 ALPS1A;APO-1;APT1;CD95;FAS1;FASTM;RP11-399O19.9;TNFRSF6 APO-1 cell surface antigen;CD95 antigen;Delta Fas/APO-1/CD95;FAS 827dupA;FAS receptor variant 9;FASLG receptor;Fas (TNF receptor superfamily, member 6);Fas AMA;Fas antigen;OTTHUMP00000020045;OTTHUMP00000020046;OTTHUMP00000020051;OTTHUMP00000217569;TNF receptor superfamily member 6;apo-1 antigen;apoptosis antigen 1;apoptosis-mediating surface antigen FAS;tumor necrosis factor receptor superfamily member 6;tumor necrosis factor receptor superfamily, member 6 APPROVED protein-coding ENSG00000026103 HGNC:11920 00609 134637;601859 REVIEWED 1605699 FASTK Fas-activated serine/threonine kinase The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008] 7 7 7 q35 145331040 145335283 - 150773708 150777970 - 151076621 151080883 - 6480464 12477932;12690205;14702039;15110758;15489334;15572676;16189514;16341674;16344560;17135269;17474147;17592127;19058789;20363972;20877624;22939624;24013584;24816145;7544399;7757816;8125298;8889548 10922 G3V1R6;Q14296 AACC02000108;AB209783;ABBA01035167;AC010973;AK023141;AK223132;AK292232;AL713798;AMYH02017068;BC000377;BC006386;BC011770;BC039026;BM799420;BU682096;CH471173;DA253544;F02420;NM_001258461;NM_006712;NM_033015;X86779;XM_005249932;XM_005249933 AAH00377;AAH11770;AAH39026;ABM83848;ABM87170;ABW03532;BAB14425;BAD93020;BAD96852;BAF84921;CAA60448;CAH10616;EAL24499;EAL24500;EAW54033;EAW54034;EAW54035;EAW54036;EAW54037;EAW54038;EAW54039;EAW54040;EAW54041;EAW54042;EAW54043;NP_001245390;NP_006703;NP_148936;Q14296;XP_005249989;XP_005249990 Hs.647094 1769238;2137092;2148951;2191809 D7S469E;MARC_8201-8202:996688395:1;RH71298;STS-X62137 FAST FAST kinase;OTTHUMP00000213278;OTTHUMP00000213305;OTTHUMP00000213306;OTTHUMP00000213307 APPROVED protein-coding ENSG00000164896 HGNC:24676 07368 606965 REVIEWED 1317522 FARP2 FERM, RhoGEF and pleckstrin domain protein 2 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity; Rac guanyl-nucleotide exchange factor activity (ortholog); INVOLVED IN neuron remodeling; positive regulation of Rho GTPase activity; Rac protein signal transduction; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH amiodarone; benzo[a]pyrene; diazinon 2 2 2 q37.3 235964969 236103837 + 242295664 242434256 + 241356249 241495074 + 1580863;6480464;8554872 12351724;12477932;12771149;14531806;15324660;15489334;15815621;20062064;20468071;20855867;21906983;21988832;22700719;23455922;23535732;23770605;23969696;9847074;9872452 9855 C9JVQ5;C9JWM9;H7C210;H7C3E4;H7C3M7;H7C447;O94887 AB018336;ABBA01006045;ABBA01006046;ABBA01006047;ABBA01006048;AC005104;AC110299;AK127510;AK300435;AL122052;AMYH02006112;AMYH02006113;AMYH02006114;AW014580;BC021301;BC036887;BQ028038;CH471063;DB451463;HY312568;NM_001282983;NM_001282984;NM_014808;XM_005247049;XM_005247050;XR_427126 AAH21301;AAY14682;ADZ15334;BAA34513;BAH13284;CAB59185;EAW71262;EAW71263;NP_001269912;NP_001269913;NP_055623;O94887;XP_005247106;XP_005247107 Hs.726316 1650696;1661468;1664097;1665178;1672072;1674769;1690702;1768947;1771853;1783968;1784194;1851294;2121475;2125288;2133165;2133581;2136481;2157076;2166846;2167559;2169410;2185803;5014051;5037552;5094761 A002C31;A004H18;AGAT021;D8S2278;D8S2279;G42015;G42016;G42017;G42018;G42019;RH11982;RH12332;RH12377;RH46388;RH68950;RH94346;SHGC-132960;SHGC-155394;SHGC-32276;SHGC-58074;SHGC-64062;WI-15301;WI-15981;WI-17474;WI-19287 FIR;FRG;KIAA0793;PLEKHC3 FERM domain including RhoGEF;FERM, RhoGEF and pleckstrin domain-containing protein 2;FGD1-related Cdc42-GEF;OTTHUMP00000200233;PH domain-containing family C member 3;pleckstrin homology domain-containing family C member 3 protein-coding ENSG00000006607 HGNC:16460 16885 VALIDATED 1606342 FASLG Fas ligand (TNF superfamily, member 6) The protein encoded by this gene is the ligand for FAS. Both are transmembrane proteins. Interaction of FAS with this ligand is critical in triggering apoptosis of some types of cells such as lymphocytes. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008] 1 1 1 q23 145737693 145745520 + 172628185 172636013 + 172659045 172666873 + 2290134;2290054;2290076;2290172;2290175;2290051;2290052;2290063;2290077;2290049;2290053;2290132;2315733;2314021;2315742;2315705;2315751;2315753;2314002;2315748;2315750;2292498;2315744;2317744;2317739;2317743;2317742;2317747;2317746;2317745;2317741;4143196;6480464;6484113;6907045;7204500;8554872;8699517 10547193;10640988;11029528;11115536;11435457;12370548;12470426;12651606;15138553;15287856;15375495;15803113;15968727;16180659;16538171;16691186;17324464;17352235;17433060;17641033;17851466;17899301;17916181;17959308;18000229;18090083;18427836;18483392;19120316;19239902;19820199;22354915 10072505;10224289;10318773;10630977;10671224;10799864;11013215;11036836;11048727;11101870;11208609;11276204;11438180;11500835;11559749;11606059;11716959;11739488;11741599;11751256;11786482;11788891;11801650;11809905;11830480;11845233;11856352;11882326;11895550;11908702;11909874;11925103;11961305;11965496;11994433;11994542;12009596;12021072;12021310;12023017;12100038;12113885;12137598;12161534;12198154;12208869;12220636;12372468;12393889;12414525;12414956;12421989;12454289;12464266;12477932;12482410;12482505;12490654;12507389;12513781;12515623;12557947;12559631;12583439;12594300;12618758;12629150;12637505;12698366;12700199;12707034;12710855;12717632;12742662;12742739;12753742;12761501;12783210;12787425;12794109;12803240;12807917;12849704;12854132;12867600;12884192;12887920;12918731;12923319;12928375;12930319;14514471;14534535;14560009;14602201;14625471;14634098;14642527;14644197;14668794;14669310;14698859;14705811;14739003;14739407;14739535;14749367;14962292;14967838;14977837;14988839;14996347;15019279;15042330;15073283;15078178;15093732;15173177;15178561;15183989;15195700;15218339;15240787;15272306;15277733;15302589;15314293;15337758;15339846;15358139;15457562;15480896;15489334;15492869;15542843;15557763;15579659;15653751;15659383;15674374;15686714;15694838;15791651;15795317;15806311;15814666;15816832;15833141;15843521;15849828;15858021;15870081;15870181;15907374;15928037;15936090;15937082;15938782;15962391;15975999;15979995;15991293;15996722;16000573;16081306;16087126;16124644;16133992;16155003;16157125;16157266;16158329;16163374;16181301;16186185;16204241;16212902;16273638;16282344;16298578;16306044;16313826;16318909;16332967;16332972;16364925;16441482;16474169;16487513;16498403;16512757;16514159;16538172;16595635;16595663;16601838;16627752;16710414;16736614;16767155;16770006;16808908;16858424;16868256;16902496;16972019;16987075;16990614;17000697;17008914;17014925;17053166;17056762;17071607;17076679;17101499;17118988;17123522;17123604;17136494;17164290;17173971;17183065;17198275;17290285;17381722;17465232;17491259;17545588;17557115;17559541;17564320;17598974;17605793;17654480;17667919;17688234;17703232;17704118;17704746;17727731;17762757;17823283;17853317;17912957;17938571;17941899;17943461;17961631;17962219;17966039;17969524;17997887;18000680;18045865;18050226;18057579;18068525;18069935;18076022;18078642;18162459;18174230;18217400;18220834;18292515;18293083;18302883;18314443;18316328;18324486;18359029;18361934;18374107;18383830;18392917;18422813;18473402;18501631;18505906;18509086;18541195;18548110;18561948;18567840;18577653;18666137;18676680;18727868;18757527;18789888;18800686;18813857;18818748;18835034;18844072;18854777;19009351;19010354;19015953;19019335;19041431;19052714;19079288;19124506;19141860;19146781;19155494;19170196;19176318;19181929;19183163;19219602;19240174;19244619;19266094;19305072;19332441;19337311;19364818;19390575;19403301;19434529;19458913;19505222;19527514;19531476;19535642;19538867;19542541;19565204;19572057;19573080;19614955;19625176;19628789;19641134;19692168;19773279;19779494;19789190;19807924;19810143;19812265;19826071;19854829;19890662;19926197;19937732;19941645;19960225;20012528;20013612;20074157;20101459;20106900;20150914;20165911;20190752;20193111;20204402;20219325;20222173;20237496;20301287;20353032;20359312;20371612;20378615;20379197;20379614;20385987;20393600;20394629;20406899;20408337;20438363;20501759;20533543;20568250;20572163;20602615;20618494;20624652;20650551;20673483;20675370;20726934;20842669;20959405;21087335;21102463;21107701;21122378;21152963;21159039;21227011;21270445;21271302;21285513;21286777;21354149;21368861;21466843;21516345;21528407;21605112;21691772;21695404;21725926;21729539;21746966;21803845;21806408;21807637;21808135;21864388;21864851;21879377;21909273;21910009;21940365;21955608;22027769;22099756;22153754;22161157;22172872;22182632;22199323;22207003;22211869;22330070;22331638;22341864;22344564;22449797;22461695;22499988;22535954;22558309;22609371;22631677;22645131;22702044;22706245;22726303;22732091;22763913;22821704;22842170;22860894;22927007;22946667;23045958;23065018;23076876;23128233;23153021;23177026;23184030;23192951;23234803;23269121;23280017;23285481;23330016;23364796;23392773;23405244;23420824;23504349;23534738;23560484;23582102;23618817;23681795;23682624;23697029;23742646;23846297;23847689;23850805;23923075;23986795;23991192;24072745;24086353;24178789;24184557;24228099;24248546;24265545;24291222;24335017;24347794;24375196;24408012;24424626;24619598;24634493;24821435;24899502;24924176;25059065;7505205;7528780;7530336;7536190;7539892;7566174;7589480;7826947;7980502;8521815;8681376;8787672;8906799;8910274;9002959;9022072;9126929;9215629;9226175;9228058;9247148;9261095;9405425;9427603;9475352;9672636;9721089;9801169;9872321;9920849;9971775 356 P48023;Q53ZZ1 AB013303;ABBA01027917;AF288573;AK314874;AMYH02002149;AY225406;AY858799;BC017502;CH471067;D38122;EF064739;GN083421;HI179174;JA362609;NG_007269;NM_000639;U08137;U11821;X89102;Z96050 AAC50071;AAC50124;AAG60017;AAH17502;AAO43991;AAX49569;ABK41922;ABM84392;ABM87146;BAA07320;BAA32542;BAG37389;CAA61474;CAX86839;CBX53895;CCA94585;EAW90935;EAW90936;NP_000630;P48023 Hs.2007 1663285;1692800;1771274;1792034;1794944;1794946;2219744 D1S3209;D1S3717;G42266;PMC135646P4;PMC86001P1;PMC86001P2;TNFSF6_2403 ALPS1B;APT1LG1;APTL;CD178;CD95-L;CD95L;FASL;TNFSF6 CD95 ligand;OTTHUMP00000032708;apoptosis (APO-1) antigen ligand 1;apoptosis antigen ligand;fas antigen ligand;tumor necrosis factor (ligand) superfamily, member 6;tumor necrosis factor ligand superfamily member 6 APPROVED protein-coding ENSG00000117560 HGNC:11936 00610 134638 REVIEWED 1348852 FARSB phenylalanyl-tRNA synthetase, beta subunit This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. [provided by RefSeq, Jul 2008] 2 2 2 q36.1 217204356 217288733 - 223436162 223520827 - 222571443 222656108 - 1580863;6480464;8554872 10049785;10375616;11042152;11858721;12477932;12962494;14702039;14980694;15000680;15047060;15489334;15635413;1741281;18781797;19738201;19946888;20223217;20379614;20562859;21139048;21890473;21903422;21906983;21907836;22137894;22505724;22623428;22863883;22939629;23000965;24250222;24654937;24816145;25027693;658405;9177188 10056 Q9NSD9 ABBA01023812;ABBA01023813;AC097461;AC104772;AF042346;AF161521;AK001025;AK055289;AK291531;AK294158;AK316497;AMYH02005861;AMYH02005862;BC006502;BC008434;BC011261;BC017783;BC022273;CH471063;D84430;NM_005687;XM_006712168;XM_006712169;XM_006712170 AAD02220;AAF29136;AAH06502;AAH17783;AAX81986;AAX88958;BAA95608;BAF84220;BAG57481;BAH14868;EAW70802;EAW70803;EAW70804;NP_005678;Q9NSD9;XP_006712231;XP_006712232;XP_006712233 Hs.471452 1651582;1725773;1771898;1771900;2129139;2130102;5019172 A002O40;A006B46;G20688;G62071;HSC2BG052;RH103332;RH47422 FARSLB;FRSB;HSPC173;PheHB;PheRS OTTHUMP00000164205;phenylalanine tRNA ligase 1, beta, cytoplasmic;phenylalanine--tRNA ligase beta chain;phenylalanine--tRNA ligase beta subunit;phenylalanine-tRNA ligase beta chain;phenylalanine-tRNA synthetase-like, beta subunit;phenylalanyl-tRNA synthetase beta chain;phenylalanyl-tRNA synthetase beta subunit;phenylalanyl-tRNA synthetase beta-subunit;phenylalanyl-tRNA synthetase-like, beta subunit APPROVED protein-coding HGNC:17800 09947 609690 REVIEWED 1606223 FASTKD1 FAST kinase domains 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cellular respiration (ortholog); FOUND IN mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; benzo[a]pyrene diol epoxide I 2 2 2 q31 164005180 164049281 - 170386259 170430431 - 169529749 169573921 - 6480464 11347906;12477932;14702039;16344560;21963094;22505724;8889548 79675 C9JMM4;C9JTP4;D3DPC4;E7EW60;Q53R41 AB058703;ABBA01014890;AC093899;AK025554;AK055892;AK074302;AK130797;AK225293;AL832058;AMYH02005185;AMYH02005186;AMYH02005187;BC017950;BC032687;BC035241;BM675885;CH471058;DA650481;DA920754;NM_001281476;NM_024622;NR_104020;XM_006712750;XM_006712751 AAH17950;AAH32687;AAY24118;ADZ16033;BAB15168;BAB47429;BAB71037;BAB85043;EAX11271;EAX11272;EAX11273;EAX11274;NP_001268405;NP_078898;Q53R41;XP_006712813;XP_006712814 Hs.529276 1644611;2120399 D2S2036;SHGC-30774 FLJ21901;KIAA1800 FAST kinase domain-containing protein 1;OTTHUMP00000207008;OTTHUMP00000207010 protein-coding ENSG00000138399 HGNC:26150 07969 VALIDATED 1604298 FASTKD3 FAST kinase domains 3 This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 5 5 5 p15.31 7900317 7910192 - 7859272 7869150 - 7859159 7869037 - 6480464 12477932;15342556;16344560;19913121;20628086;20869947;21942715 79072 D6RAR6;D6RB04;D6RC07;D6RHY4;Q14CZ7 ABBA01020576;AC010346;AF161354;AK026927;AMYH02010823;BC001295;BC113563;BC143517;BC143518;BG613096;BP317791;BQ921348;CH471102;DA297400;NG_033101;NM_024091;NR_036553;NR_073608;XM_006714498;XR_427664 AAF28914;AAH01295;AAI13564;ADR83087;EAX08094;EAX08095;NP_076996;Q14CZ7;XP_006714561 Hs.653162 1648403;1690352;1740175;2139331 D5S1941;G06190;RH65313;RH91136 FLJ23274;MGC142123;MGC5297 FAST kinase domain-containing protein 3;OTTHUMP00000161656 protein-coding ENSG00000124279 HGNC:28758 10083 REVIEWED 1602469 FASTKD5 FAST kinase domains 5 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cellular respiration (ortholog); FOUND IN mitochondrion; INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 20 20 20 p13 3189124 3202490 - 3127165 3140532 - 3146519 3159886 - 6480464 11347906;12477932;14702039;16189514;21822266;21890473;21903422;21906983;22268729;22797925;23602568;24816145 60493 Q7L8L6 AB058695;ABBA01053812;AK023211;AK027215;AK301748;AL121891;AMYH02036594;AW182833;BC007413;BC011856;CH471133;NM_021826 AAH07413;AAH11856;ACE87117;BAB14464;BAB15696;BAB47421;BAG63210;EAX10548;NP_068598;Q7L8L6 Hs.741168 1776427;2114020;2128851;5015861;5037552;7185938 AB062957;D10S16;D20S1109;D20S1116;D8S2279 FLJ13149;FLJ58294;dJ1187M17.5 FAST kinase domain-containing protein 5;OTTHUMP00000030082 protein-coding ENSG00000215251 HGNC:25790 07813 614272 VALIDATED 1317335 FASTKD2 FAST kinase domains 2 This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008] 2 2 2 q33.3 201391543 201422344 + 207630112 207660913 + 206765388 206796189 + 1580863;6480464;7240710;8554872;8699517 10231032;10931946;12477932;14702039;15489334;15815621;16344560;18771761;20186120;20877624;20966902;21139048;21444724;21906983;23459443;24778252 22868 C9JPI6;Q9NYY8 AB023188;ABBA01062667;ABBA01062668;ABBA01062669;AC008269;AF223470;AK001315;AK001516;AK021557;AK127714;AL833877;AMYH02005633;AMYH02005634;BC001544;CH471063;DA021045;DA475994;DA756417;NG_008984;NM_001136193;NM_001136194;NM_014929 AAF64145;AAH01544;AAX93275;ACE87262;ADZ15471;BAA76815;BAA91617;BAG50930;CAD38734;EAW70394;EAW70395;EAW70396;EAW70397;EAW70398;NP_001129665;NP_001129666;NP_055744;Q9NYY8 Hs.5930;Hs.722628 1649819;2172459;2184277;5037552 D8S2279;RH45208;RH68229;WI-18179 KIAA0971 FAST kinase domain-containing protein 2;OTTHUMP00000163838;OTTHUMP00000206508;OTTHUMP00000206509 APPROVED protein-coding HGNC:29160 13825 220110;612322 REVIEWED 1347691 FASN fatty acid synthase The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008] 17 17 17 q25 76630560 76648850 - 80036214 80056106 - 82078338 82098230 - 1580863;2317317;2317204;2317309;6480464;6907045 15715522;17882277;19181734 1044453;10769045;11018265;11034606;11248039;11756679;11790787;12060737;12213084;12477932;12515624;12531699;12646257;12689621;12815048;12839976;12882974;12939396;14689581;15047835;15050917;15113941;15161933;15220220;15235125;15254710;15302935;15489334;15507492;15523670;15576338;15669079;15852347;15897909;16009940;16175090;16189514;16196087;16210410;16215233;16263121;16335966;16582625;16644689;16806233;16894240;16964243;17081065;17081983;17188392;17220478;17488603;17492427;17618104;17618296;17620599;17631500;17662476;17687193;17847090;18022563;18029348;18211286;18239060;18281474;18281512;18410580;18420801;18455495;18528705;18635971;18660489;18682402;18682509;18781797;18796435;18802406;18820672;18830996;18838960;18955444;19027726;19032940;19056867;19083124;19135240;19252981;19300427;19318631;19358283;19380743;19467222;19471962;19517019;19542561;19543203;19621387;19728851;19738201;19847302;19851294;19876008;19885560;19893031;19913121;20067991;20126469;20132826;20228782;20299470;20356977;20360068;20511185;20546348;20602615;20606731;20628086;20657182;20679621;20691246;20691427;20811782;20877624;20965718;20972266;21044743;21081666;21145461;21252943;21319273;21325951;21360678;21442130;21641044;21646813;21726077;21726808;21757596;21877200;21890473;21906983;21908709;21922386;21963094;21970855;21987572;21988832;22053931;22127986;22135723;22145905;22178446;22266115;22268729;22370483;22412018;22425483;22490687;22505724;22536838;22586326;22653145;22723001;22771636;22786746;22863883;22939629;22990118;23000965;23040493;23064941;23084401;23125841;23135268;23142364;23184344;23184937;23208675;23269672;23306391;23317220;23402259;23419663;23427160;23438482;23455922;23675653;23725225;23862649;23887214;23982110;24080588;24105476;24108439;24200503;24250222;24337182;24366211;24390663;24457600;24510238;24583282;24596388;24639526;24654937;24696471;25015289;25027693;2669958;600212;7567999;7595075;7835891;8022791;8662758;8944226;8986532;9356448 2194 J3KTF0;P49327 AB209988;ABBA01019663;AC135056;AMYH02034149;AY451392;BC007267;BC007305;BC007909;BC014631;BC014634;BC021544;BC063242;CH471099;NM_004104;S80437;U26644;U29344;U52428 AAA73576;AAB35516;AAC50259;AAC50536;AAH07267;AAH07909;AAH14631;AAH14634;AAH63242;AAS09886;BAE06070;EAW89745;NP_004095;P49327 Hs.83190 1733380;1736927;2107081 D17S1256;D17S1571;FASN_7242 FAS;MGC14367;MGC15706;OA-519;SDR27X1 short chain dehydrogenase/reductase family 27X, member 1 APPROVED protein-coding ENSG00000169710 HGNC:3594 02567 600212 REVIEWED 1351260 FAT3 FAT atypical cadherin 3 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN cell morphogenesis involved in differentiation (inferred); homophilic cell adhesion via plasma membrane adhesion molecules (inferred); multicellular organismal development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN dendrite (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; acetylsalicylic acid; formaldehyde 11 11 11 q14.3 89389818 89934254 + 92047446 92629636 + 92225112 92896470 + 625453;1580863;6480464;8554872 11811999 12477932;14702039;15146197;15744052;20379614;21875946;22939629;24204828;24529757 120114 E9PQ73;G5EA25;Q8TDW7 AB076400;ABBA01040055;ABBA01040056;ABBA01040057;AK054903;AK091570;AK126620;AK127104;AMYH02025348;AMYH02025349;AMYH02025350;AMYH02025351;AP000722;AP000805;AP002514;AP003124;AP003171;AP003718;BC016722;CN295176;KC877456;NM_001008781;XM_006718764 AAH16722;BAB86868;NP_001008781;Q8TDW7;XP_006718827 Hs.98523 1338724;1338815;1341692;1655805;1656770;1670654;1675397;1709216;1710996;1715501;1721807;1731545;1737639;1738181;1738183;1743271;1743277;1755757;1767569;1852239;1856609;2156798;2163031;2179911;2183491;5037552;7187960 119XF8;D11S1039;D11S1056;D11S1071;D11S1159;D11S1257;D11S1332;D11S1995;D11S3237;D11S3812;D11S3814;D11S3995;D11S873;D8S2279;G30476;G59926;GDB:313875;GDB:313995;RH120974;RH69779;RH91365;SHGC-142605;SHGC-34004;SHGC-84876;SHGC-85792;STS-R01006 CDHF15;CDHR10;FLJ30341;KIAA1989;hFat3 FAT tumor suppressor homolog 3;OTTHUMP00000205760;cadherin family member 15;cadherin-related family member 10;protocadherin Fat 3 APPROVED protein-coding ENSG00000165323 HGNC:23112 612483 VALIDATED 1342504 FAT4 FAT atypical cadherin 4 The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014] 4 4 4 q28.1 123617849 123794372 + 126237003 126414087 + 125315849 125492932 + 6480464;8699517;7240710;8554872 14702039;15003449;15345747;16713569;16865240;19048595;19734545;20351715;20379614;21875946;22484628;23319386;23974041;24056717;24913602 79633 B3KU84;Q6V0I7;X2G5I7;X2GA70 AB075518;ABBA01044776;ABBA01044777;AC079835;AC092629;AC098865;AK026709;AK091292;AK096646;AK291461;AL713715;AMYH02010047;AMYH02010048;AY356402;CH471056;DT932755;DT932756;KJ131481;KJ131482;KJ131483;KJ131484;KJ131485;KJ131486;KJ131487;KJ131488;NG_033865;NM_001291285;NM_001291303;NM_024582;XM_005263210;XM_006714304 AAR13653;AHN13819;AHN13820;AHN13821;AHN13822;AHN13823;AHN13824;AHN13825;AHN13826;BAB15534;BAE45762;BAF84150;BAG52326;BAG53346;CAD28510;EAX05203;NP_001278214;NP_001278232;NP_078858;Q6V0I7;XP_005263267;XP_006714367 Hs.563205 1657732;1664355;1711234;1715191;1717301;1725485;1848884;1851943;2107083;2136138;2136911;2152765 A004Y33;D4S288;FATJ__7643;RH119139;RH119846;RH122065;RH36029;RH47713;SHGC-24083;SHGC-59711;SHGC-67861;SHGC-89043 CDHF14;CDHR11;FAT-J;FATJ;FLJ23056;FLJ77878;HKLLS2;NBLA00548;VMLDS2;hFat4 FAT tumor suppressor homolog 4;OTTHUMP00000164132;OTTHUMP00000194778;cadherin family member 14;cadherin-related family member 11;fat-like cadherin FATJ;fat-like cadherin protein FAT-J;protocadherin Fat 4;putative protein product of Nbla00548 APPROVED protein-coding ENSG00000196159 HGNC:23109 07637 612411;615546;616006 REVIEWED 1345655 FAT1P1 FAT atypical cadherin 1 pseudogene 1 20 20 20 p12.2 10939203 10939708 - 10869233 10869738 - 10888585 10889090 - 170513 ABBA01053939;AL050403;AMYH02036701;NG_001036 dJ697P8.1 APPROVED pseudo HGNC:16582 INFERRED 1346617 FAUNA@ FAU neighboring area cluster 9286704 2198 HGNC:3598 1342760 FAUP1 FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 1 18 18 18 q22.3 68924394 68924984 - 72057058 72057648 - 74389823 74390413 - 19123937;7642109 140623 ABBA01056325;AC008021;AMYH02034993;NG_001306;U02523 1676392;1725609 G62092;RH93189 FAU1P;RPS30_2_1613 pseudo HGNC:17984 INFERRED 732531 FAT1 FAT atypical cadherin 1 This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008] 4 4 4 q35 184830318 184965946 - 187508937 187647876 - 186587783 186726722 - 1580863;6480464;8554872 10737800;12477932;15146197;15148305;15342556;15744052;15922730;16402135;16979624;17081983;17325662;17500054;17895925;17938632;19033385;19056867;19126244;19131340;19328558;19893579;21139048;21552555;21617878;21680732;21890473;21906983;21963094;22116550;22194967;22347407;22505724;22959770;22986533;23314748;23354438;23433465;23438482;23443559;23785297;24442637;24550227;24560745;24590895;8586420;8889548;9182820;9199196 2195 D6RCE4;D6RHE6;H0Y8F5;H0Y9C8;H0Y9H4;Q14517 ABBA01070565;ABBA01070566;ABBA01070567;AC107050;AC110761;AK307938;AMYH02010681;BC012432;BF327563;BP363658;BU729008;CD642620;CH471056;CN289962;D88798;EF139845;NM_005245;X87241;XM_005262834;XM_005262835;XM_006714139 BAA21568;CAA60685;EAX04614;EAX04615;EAX04616;NP_005236;Q14517;XP_005262891;XP_005262892;XP_006714202 Hs.481371 1660660;1688364;1705712;1707092;1728157;1767218;2110401;2147316;2170292;2170713 D4S1295;FAT__7639;G63501;RH93502;SHGC-51162;SHGC-67715;SHGC-81304;SHGC-83441;STS-X87241;WI-14904 CDHF7;CDHR8;FAT;ME5;hFat1 FAT tumor suppressor 1;FAT tumor suppressor homolog 1;OTTHUMP00000218016;cadherin ME5;cadherin family member 7;cadherin-related family member 8;cadherin-related tumor suppressor homolog;protein fat homolog;protocadherin Fat 1 APPROVED protein-coding ENSG00000083857 HGNC:3595 02986 600976 REVIEWED 1353364 FATE1 fetal and adult testis expressed 1 This gene encodes a cancer-testis antigen that is highly expressed in hepatocellular carcinomas and other tumors and weakly expressed in normal tissues except testis. The protein is strongly expressed in spermatogonia, primary spermatocytes, and Sertoli cells in seminiferous tubules. This protein may have a role in the control of early testicular differentiation and cell proliferation. [provided by RefSeq, Jan 2010] X X X q28 151132863 151140021 + 150884508 150891666 + 151716036 151723194 + 737633;1580863;6480464 12477932 11076863;11134355;11256614;11694338;12811541;12865919;14702039;15489334;15489336;15580283;16189514;16381901;16713569;17761949;18976975 89885 H7C1I5;Q969F0 ABBA01037253;AF002992;AF249872;AMYH02040782;AY101182;BC022064;CH471169;NG_016398;NM_033085 AAH22064;AAK69024;AAM48744;ABM83344;ABM86558;CAL38375;EAW99408;NP_149076;Q969F0 Hs.301960 1702236 DXS7079 CT43;FATE BJ-HCC-2 antigen;OTTHUMP00000025877;cancer/testis antigen 43;fetal and adult testis expressed transcript protein;fetal and adult testis-expressed transcript protein;tumor antigen BJ-HCC-2 APPROVED protein-coding ENSG00000147378 HGNC:24683 02346 300450 REVIEWED 732170 FAT2 FAT atypical cadherin 2 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] 5 5 5 q33.1 146965062 147029916 - 150883653 150948505 - 151504092 151591335 - 68762;1580863;6480464;8554872 9693030 10380929;10716726;10835267;12477932;15491607;16335952;17900869;19199708 2196 H0YBK2;Q6PIA2;Q9NYQ8 AB011535;AB160984;AB177851;ABBA01026262;AC011337;AC011374;AC034205;AF231022;AK308619;AL157443;AMYH02012471;BC039143;CH471062;NM_001447;XM_006714761 AAF61928;AAH39143;BAA32463;BAD08246;BAD66829;CAB75663;EAW61673;NP_001438;Q9NYQ8;XP_006714824 Hs.591255 1750479;1780980;1785380;2108087;2126299 Cda1id10;FAT2__7640;SHGC-111788;SHGC-141492;bac5571T CDHF8;CDHR9;HFAT2;MEGF1 FAT tumor suppressor homolog 2;OTTHUMP00000160621;cadherin family member 8;cadherin-related family member 9;multiple EGF-like domains protein 1;multiple epidermal growth factor-like domains 1;multiple epidermal growth factor-like domains protein 1;protocadherin FAT2;protocadherin Fat 2 APPROVED protein-coding ENSG00000086570 HGNC:3596 05041 604269 REVIEWED 1351680 FAU Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq, Jul 2008] 11 11 11 q13 62214399 62215972 - 64888099 64889672 - 65120627 65122200 - 6480464 12477932;12588972;12660817;12860195;1326960;14702039;15189156;15342556;15489334;15543234;15635413;15883184;16169070;16196087;19671159;19738201;19830698;20360068;21139048;21145461;21550398;21706016;21988832;22174317;22863883;22939629;23151878;23443559;23463506;24250222;24816145;7821789;8395683;8406491;8706699;8722009;9582194 2197 E9PM49;E9PMS9;E9PR30;J3KN89;P35544;P62861 AA449261;ABBA01024136;AK026639;AMYH02024953;AP003068;AY398663;BC033877;BC051834;BP296770;BU602831;CH471076;CR541974;D28403;NM_001997;X65921;X65923 AAH33877;AAQ87877;ABM83335;ABM86548;BAA05769;BAB15515;CAA46714;CAA46716;CAG46772;EAW74353;NP_001988;P35544;P62861 Hs.387208 1650582;1676392;1725609;2154849;5126495 D11S1963;FAU;G62092;RH11613;RH93189 FAU1;FLJ22986;Fub1;Fubi;RPS30;S30;asr1 40S ribosomal protein S30;FAU-encoded ubiquitin-like protein;FBR-MuSV-associated ubiquitously expressed;Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived);MNSFbeta;OTTHUMP00000230421;OTTHUMP00000230422;OTTHUMP00000230423;OTTHUMP00000230424;OTTHUMP00000230425;OTTHUMP00000230427;monoclonal nonspecific suppressor factor beta;ribosomal protein S30;ubiquitin-like protein fubi and ribosomal protein S30;ubiquitin-like-S30 fusion protein APPROVED protein-coding HGNC:3597 00002 134690 REVIEWED 1321696 FBF1 Fas (TNFRSF6) binding factor 1 INVOLVED IN apical junction assembly; cilium assembly; establishment of epithelial cell polarity; FOUND IN apical junction complex; centriole; ciliary transition fiber; INTERACTS WITH arsenous acid; diarsenic trioxide; methyl methanesulfonate 17 17 17 q25.1 70496670 70527169 - 73905925 73937119 - 75910537 75941038 - 737633;6480464 12477932 10978533;11347906;14702039;16169070;16189514;18838552;19060904;21145461;21832049;23443559;24255178;24722188 85302 J3KPL7;K7EL64;K7ENL6;K7EPQ1;K7ESG2;Q8TES7;U3KPW3 AB354594;ABBA01028767;AC087289;AK057261;AK074045;AMYH02034002;BC007570;BC012332;BC023549;CH471099;NM_001080542 AAH07570;AAH12332;AAH23549;BAB71400;BAB84871;BAG71501;EAW89342;NP_001074011;Q8TES7 Hs.720068 2169779;2171351 RH16429;SHGC-34016 Alb;FBF-1;FLJ00103;FLJ13996;KIAA1863 Fas binding protein 1;albatross;fas-binding factor 1 protein-coding ENSG00000188878 HGNC:24674 VALIDATED 1319694 FAXDC2 fatty acid hydroxylase domain containing 2 ENCODES a protein that exhibits iron ion binding (inferred); oxidoreductase activity (inferred); INVOLVED IN fatty acid biosynthetic process (inferred); oxidation-reduction process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 5 5 5 q31-q32 150275538 150307720 - 154196594 154230213 - 154817034 154850653 - 6480464 10843801;12477932;14702039;15489334;17081983 10826 B4DIE1;E5RFJ7;E5RH66;E5RH84;E5RIK6;E5RJN8;E5RJQ9;E5RK01;E5RK16;Q96IV6 ABBA01026222;AC112169;AF159165;AK023820;AK074245;AK127944;AK295546;AK300938;AL359653;AL359655;AMYH02012511;BC004506;BC007216;CH471062;NM_032385;XM_005268356;XM_005268358;XM_006714753 AAF22611;AAH04506;AAH07216;BAG58453;BAG62567;EAW61629;EAW61630;EAW61631;NP_115761;Q96IV6;XP_005268413;XP_005268415;XP_006714816 Hs.519694;Hs.713175 1666539;1669159 D5S2640;STS-H62475 C5orf4;FLJ13758 OTTHUMP00000225980;OTTHUMP00000225981;fatty acid hydroxylase domain-containing protein 2;hypothetical protein LOC10826;uncharacterized protein C5orf4 APPROVED protein-coding ENSG00000170271 HGNC:1334 12832 VALIDATED 1313628 FBL fibrillarin This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 37127387 37139349 - 40325093 40337054 - 39834453 39846414 - 1580863;6480464;6907045 10518318;10648622;10837141;11509230;11739535;11790298;11835310;11960984;12244096;12373336;12388758;12477932;12490167;14583623;14743216;15009096;15057824;15489334;15494374;15574333;15576338;15635413;15848144;16157300;16169070;16196087;16210410;16226712;16687569;1714385;17158916;17314511;1731817;17353931;17403666;17461797;17498821;17603021;17620599;17636026;17643375;18292223;1846968;18781797;19056867;19095616;19331828;19454010;19679658;19738201;19913121;19928837;20020773;2026646;20360068;20628086;21110914;21139048;21145461;21282530;21536856;21890473;21906983;21907836;21963094;22178446;22354994;22505724;22586326;22623428;22909121;22939629;23000965;23084401;23398456;23443559;23862649;24029231;2414294;24250222;24332808;24457600;24591637;24778252;24816145;25027693;7626687;8670859;9548374;9654073 2091 M0QXC9;M0QXL5;M0R0P1;M0R1H0;M0R299;M0R2B0;M0R2Q4;M0R2U2;P22087 AB451384;ABBA01040734;AC005393;AC006950;AC244229;AI085380;AK296950;AK308649;BC015218;BC019260;BC019609;BG831506;BT006830;BT020144;CH471126;CR457069;M59849;NM_001436;X56597;XM_005258651 AAA52453;AAC28913;AAD15623;AAH15218;AAH19260;AAH19609;AAP35476;AAV38946;ABM83240;ABM86443;BAG59496;BAG70198;CAA39935;CAG33350;EAW56925;NP_001427;P22087;XP_005258708 Hs.299002 5037552;5037554;5122786;5491621 D8S2279;D8S2282;MARC_26184-26185:1030717529:1;RH66838 FIB;FLRN;RNU3IP1 34 kDa nucleolar scleroderma antigen;34-kD nucleolar scleroderma antigen;RNA, U3 small nucleolar interacting protein 1;histone-glutamine methyltransferase;rRNA 2'-O-methyltransferase fibrillarin APPROVED protein-coding ENSG00000105202 HGNC:3599 00617 134795 REVIEWED 1347110 FAXC failed axon connections homolog (Drosophila) FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; copper atom; copper(0) 6 6 6 q16.2 100364951 100441701 - 99720793 99797594 - 99272917 99350017 - 737633;6480464 12477932 14574404;14702039;15489334;23942779;8889548 84553 Q5TGI0;Q9BR58 ABBA01014483;ABBA01014484;ABBA01014485;ABBA01014486;AK055101;AK057793;AK096480;AL034371;AMYH02014181;AMYH02014182;BC004869;BC006515;BC011583;BQ883579;CH471051;CK299578;NM_032511;XM_005267164;XM_006715581;XM_006715582 AAH04869;AAH06515;AAH11583;ADZ15366;BAB71576;BAG53301;EAW48483;EAW48484;EAW48485;EAW48486;EAW48487;NP_115900;Q5TGI0;XP_005267221;XP_006715644;XP_006715645 Hs.573245 1659056;1770230;2113824;2130055;2145890;2165504;2173607;5015961;5022322;5037552 A004C48;A008S27;AB060249;D11S2560;D15S1477;D6S2080;D6S2138;D8S2279;RH12685;WI-16366 C6orf168;FLJ30539;MGC2817;dJ273F20 OTTHUMP00000016889;failed axon connections homolog;hypothetical protein LOC84553;uncharacterized protein C6orf168 APPROVED protein-coding ENSG00000146267 HGNC:20742 12866 VALIDATED 2303694 FBLL1 fibrillarin-like 1 ENCODES a protein that exhibits methyltransferase activity (inferred); RNA binding (inferred); INVOLVED IN methylation (inferred); rRNA processing (inferred); tRNA processing (inferred); FOUND IN nucleus (inferred); ribonucleoprotein complex (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); C60 fullerene (ortholog) 5 5 5 q34 163991936 163992990 + 167956582 167957639 + 168529577 168530634 + 6480464 21110914;21145461;22178446;22990118;24639526 345630 A6NHQ2;R4GMW7 ABBA01044123;AC020894;AMYH02012699;AMYH02012700;BX115749;CH471062;CK906195;DB496895;NR_024356 A6NHQ2;EAW61506 Hs.166262 pseudo HGNC:35458 VALIDATED 2305065 FAUP2 FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 2 3 3 3 q26.33 179394011 179394307 - 180960393 180960689 - 181242605 181242901 - 19123937 100271125 ABBA01058509;AC083904;AMYH02008246;NG_010095 RPS30_1_440 pseudo HGNC:36535 INFERRED 2305064 FAUP3 FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 3 4 4 4 q35.2 186337072 186337428 + 189027712 189028068 + 188106558 188106914 + 19123937 100271126 ABBA01070588;AC108073;AMYH02010702;NG_010102 RPS30_1_539 pseudo HGNC:36970 INFERRED 736145 FBLN5 fibulin 5 The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008] 14 14 14 q32.1 72388374 72466655 - 92335755 92414046 - 91869410 91947702 - 1300360;69830;1580863;1300318;6480464;7240710;8554872;8699517 10428823;11805834;12189163 10640802;11549288;11805835;12111551;12477932;12618961;12975309;14745449;15269314;15342556;15489334;15528465;16153447;16303743;16344560;16374472;16691202;16713569;16837650;16904068;17035250;17255108;17371835;17472576;17581631;18029348;18185537;18222970;18341572;18391951;18985028;18989607;19015224;19167375;19194475;19251763;19450918;19570982;19617354;19767220;19862539;19948975;19957551;20007835;20133342;20201926;20301756;20379614;20546612;20599547;20599731;21122382;21193390;21290250;21454378;21519142;21576112;22280367;22685266;22790990;22829427;22990118;23443559;23782690;24386352 10516 G3V2P8;G3V329;G3V3Y2;G3V4U0;G3XA98;H0YJ31;Q9UBX5 AA812956;ABBA01030466;ABBA01030467;AF093118;AF112152;AJ133490;AK074540;AK075147;AK307592;AL049872;AL110148;AL546863;AL590328;AMYH02029752;AMYH02029753;AMYH02029754;AY358898;BC022280;BP338841;BX248290;CH471061;CQ783216;CR457140;CS161058;DB263961;KF455988;NG_008254;NM_006329;XM_005267267 AAC62107;AAD41768;AAH22280;AAQ89257;BAG51970;BAG52073;CAB38568;CAD62618;CAF86416;CAG33421;CAJ30879;EAW81465;EAW81466;EAW81467;NP_006320;Q9UBX5;XP_005267324 Hs.332708 1713277;1753643;2109299;2129336;2191745 D14S1304;FBLN5_9125;MARC_6365-6366:996689692:1;RH120630;SHGC-107516 ADCL2;ARCL1A;ARMD3;EVEC;FIBL-5;FLJ90059;UP50 DANCE;OTTHUMP00000245160;OTTHUMP00000245161;OTTHUMP00000245162;developmental arteries and neural crest EGF-like protein;developmental arteries and neural crest epidermal growth factor-like;fibulin-5;urine p50 protein APPROVED protein-coding ENSG00000140092 HGNC:3602 05204 219100;604580;608895;614434 REVIEWED 1318572 FBLN1 fibulin 1 Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008] 22 22 22 q13.31 29809689 29909644 + 45898719 45997014 + 45502839 45601134 + 1598727;1580863;6480464;7240710;8699517;8554872 14654066 10037144;10318851;10400671;10544250;10591208;11238726;11792823;11829738;11836357;11846885;11850827;12122015;12200142;12477932;12644824;12912698;1400330;14635206;14691454;14702039;14718574;15231748;15489334;15498874;15528301;15774544;15990087;16061471;16169070;16303743;16571622;16713569;17062666;17353931;18029348;18222970;18985039;19109427;19609566;19693531;20098615;20360068;20379614;20405022;20451270;20716560;20967215;21078624;21268132;21888404;21926180;21988832;22349089;22365631;2269669;23294625;23391467;23907575;2527614;7500359;7534784;7642629;7806231;7842734;8175920;8354280;8552629;8737292;8839849;8889548;9106159;9278415;9299350;9393974;9466671;9811350;9927660 2192 B1AHL2;B1AHM4;B1AHM5;B1AHM6;B1AHM7;B1AHM8;B1AHM9;B1AHN3;H7C1M6;P23142;Q8NBH6 ABBA01007139;ABBA01007140;AF126110;AF217999;AI092723;AK075460;AK075566;AK095988;AK300806;AK316291;AL021391;AMYH02038521;AMYH02038522;AMYH02038523;AY040589;BC022497;BX403501;BX424750;BX443677;CB852401;CH471138;CS161042;CS161044;CS161046;CS161048;CS208047;HB867232;KF457485;NG_023308;NM_001996;NM_006485;NM_006486;NM_006487;U01244;X53741;X53742;X53743;Z95331;Z98047 AAB17099;AAG17241;AAH22497;AAK37822;AAK82945;ABM84973;BAC11705;BAG62463;BAH14662;CAA37770;CAA37771;CAA37772;CAJ30871;CAJ30872;CAJ30873;CAJ30874;CAJ44949;CBF57602;EAW73385;EAW73386;EAW73387;EAW73388;EAW73389;EAW73390;NP_001987;NP_006476;NP_006477;NP_006478;P23142 Hs.24601 1334722;1656400;1681520;1686210;1711576;1711578;1721329;1722505;1725657;1747491;1747493;1747495;1747497;1747499;1774184;1777548;1791560;1850861;2119000;5024445 AL021648;D22S1102;D22S1237;D22S1238;D22S444;G06348;G49289;G49290;G59664;G60177;G62037;G65369;G65370;G65371;G65372;G65373;PMC115182P4;RH15754;SHGC-11380;WIAF-1606 FBLN;FIBL1 OTTHUMP00000199864;OTTHUMP00000199865;OTTHUMP00000199866;OTTHUMP00000199867;OTTHUMP00000214005;fibulin-1 APPROVED protein-coding ENSG00000077942 HGNC:3600 00629 135820;608180 REVIEWED 1606792 FBLIM1 filamin binding LIM protein 1 This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p36.21 14568272 14596101 + 16083107 16113089 + 15756340 15786594 + 6480464;7349373;8554872 23860236 12477932;12496242;12679033;14702039;14757752;15146197;15489334;15671069;15701922;16341674;16531412;16710414;17711449;18029348;18528435;18829455;18854154;19074766;19833732;22043318;22246236;22843679;23099104;23237804;23247143;23645746 54751 D6R9I4;D6R9V9;D6RA19;D6RAI6;D6RAI8;E7EN81;E7EPI5;E7EWE8;Q5VVD3;Q8WUP2 ABBA01004696;ABBA01004697;ABBA01004698;AF459643;AK027444;AK055259;AL133035;AL450998;AMYH02000367;AMYH02000368;AMYH02000369;AY180161;BC019895;BM855570;CH471167;CN278745;NM_001024215;NM_001024216;NM_017556;XM_005245900;XM_005245901;XM_005245902;XM_005245903;XM_005245904;XM_005245908;XM_005245909;XM_005245910;XM_005245911;XM_006710704;XM_006710705 AAH19895;AAO15549;AAO49012;ABM82656;ABM85833;BAB55115;BAG51492;CAB61365;EAW51750;EAW51751;EAW51752;NP_001019386;NP_001019387;NP_060026;Q8WUP2;XP_005245957;XP_005245958;XP_005245959;XP_005245960;XP_005245961;XP_005245965;XP_005245966;XP_005245967;XP_005245968;XP_006710767;XP_006710768 Hs.530101 1656826;2184912;5014051;5015619;5015861;5015881;5021872;5022200;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D1S3543;D8S2278;D8S2279;GDB:335751;L18426;WI-14085;sY3084 CAL;DKFZp434G171;FBLP-1;FBLP1;RP11-169K16.5 CSX-associated LIM;MIG2-interacting protein;OTTHUMP00000003118;OTTHUMP00000003119;OTTHUMP00000003120;OTTHUMP00000221650;filamin-binding LIM protein 1;filamin-binding LIM protein-1;migfilin;mitogen-inducible 2 interacting protein;mitogen-inducible 2-interacting protein APPROVED protein-coding ENSG00000162458 HGNC:24686 09669 607747 REVIEWED 1601826 FBLN7 fibulin 7 ENCODES a protein that exhibits calcium ion binding (inferred); heparin binding (inferred); INVOLVED IN cell adhesion (inferred); FOUND IN extracellular vesicular exosome; focal adhesion; INTERACTS WITH aflatoxin B1; cyclosporin A; trichostatin A 2 2 2 q13 106100477 106149878 - 112895962 112945793 + 112138385 112188216 + 6480464 12477932;14702039;16344560;17699513;19229767;24480309 129804 B8ZZC1;H7BZ65;Q53RD9;Q8IY13 ABBA01005784;ABBA01005785;AC092645;AK094759;AK124067;AMYH02004583;BC035784;BC038242;BC126986;BC126987;CH471245;CR933697;DA201691;NM_001128165;NM_153214;XM_006712259;XM_006712260 AAH35784;AAH38242;AAI26987;AAI26988;AAY14854;BAC04416;BAG53997;CAI46168;EAW52100;EAW52101;EAW52102;NP_001121637;NP_694946;Q53RD9;XP_006712322;XP_006712323 Hs.437696 5015619;5037552;5123891 D11S3114;D8S2279;RH36532 DKFZp547D0610;FIBL-7;FLJ37440;TM14 OTTHUMP00000203579;OTTHUMP00000203580;OTTHUMP00000203581;OTTHUMP00000203582;OTTHUMP00000203584;fibulin-7 protein-coding ENSG00000144152 HGNC:26740 08783 611551 VALIDATED 9586256 FBP2P1 fructose-1,6-bisphosphatase 2 pseudogene 1 9 9 9 61011730 61022432 - 90441413 90452147 - 87826498 87837232 - 100420269 ABBA01016329;AL772337;AMYH02021166;NG_023842 pseudo HGNC:49924 INFERRED 735552 FBP1 fructose-1,6-bisphosphatase 1 Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008] 9 9 9 q22.3 67806446 67843550 - 97365415 97402531 - 94603133 94640249 - 1601165;1580863;1300048;2302970;2301230;2302851;6480464;6907045;7240710;8554872;8699517 11440903;14342527;4353083;7763253 10222032;12477932;12507293;15164053;15489334;15965961;16169070;16189514;16275660;16344560;16442285;16672220;18029348;18375435;18460190;1846613;18650089;18660489;18780768;18978678;19056867;19259699;19505453;19626708;19881551;20096900;20151204;21044950;21209200;2164670;21900206;21988832;22039417;22057438;22120740;22517657;23251661;23453623;23755305;23881342;24007283;24146906;25043030;2842796;7558035;7589895;7809062;8125298;8135811;8382525;8387495;8530070;9282826;9380240;9382095 2203 P09467;Q2TU34;Q5VZC3 ABBA01043635;ABBA01043636;ABBA01043637;ABBA01043638;ABBA01043639;ABBA01043640;AF073475;AK223395;AK292199;AK316583;AL161728;AMYH02021259;AMYH02021260;AY544122;AY866483;BC012927;CH471174;D26054;D26055;D26056;DA962803;HB907234;HB964552;HC964643;HD021962;L10320;M19922;NG_008174;NM_000507;NM_001127628;U21925;U21931;U47918;U47919;XM_006717005 AAA35517;AAA35817;AAA89097;AAA89098;AAC25774;AAC50207;AAH12927;AAT11153;AAW34363;BAA05051;BAA05052;BAA05053;BAD97115;BAF84888;BAG38171;CBF86692;CBG16870;CBV02277;CBV30316;EAW92617;NP_000498;NP_001121100;P09467;XP_006717068 Hs.494496 1744965;1758287;2136387;2153477;5120355 GDB:311304;GDB:583921;RH109;SHGC-12730;SHGC-147916 FBP D-fructose-1,6-bisphosphate 1-phosphohydrolase 1;FBPase 1;OTTHUMP00000021694;fructose-1,6- biphosphatase 1;fructose-bisphosphatase 1;growth-inhibiting protein 17;liver FBPase APPROVED protein-coding ENSG00000165140 HGNC:3606 01973 229700;611570 REVIEWED 1345931 FBLN2 fibulin 2 This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 p25.1 13528888 13618185 + 13573824 13679922 + 13549125 13638422 + 1580863;6480464 10544250;10848816;10934193;11038354;11493006;11531782;11733994;11847210;12477932;12618961;14702039;15231747;16713569;18985028;19609566;19834535;20083228;20201926;21743496;22912785;23092984;23612897;24692557;7500359;7806230;8245130;8702639;8737292;8946175;9006922;9214621;9431988;9886271;9887386 2199 C9JQS6;H7BXL0;H7C1A3;P98095;Q86V58;Q9Y3V7 ABBA01025169;ABBA01025170;ABBA01025171;AC090509;AK129883;AK300913;AK304777;AK304827;AL050095;AL080171;AMYH02006315;AY130458;AY130459;BC051690;CB959783;CH471055;FJ695211;NM_001004019;NM_001165035;NM_001998;X82494;XM_006713026 AAH51690;AAN05435;AAN05436;BAH13375;BAH14254;BAH14261;CAA57876;CAB43267;EAW64170;EAW64171;NP_001004019;NP_001158507;NP_001989;P98095;XP_006713089 Hs.198862 1337983;1669479;2108089;2141010 D3S1516;FBLN2_8342;SHGC-57863;SHGC-76718 FIBL-2 OTTHUMP00000216670;OTTHUMP00000216671;OTTHUMP00000216672;fibulin-2 APPROVED protein-coding ENSG00000163520 HGNC:3601 00630 135821 REVIEWED 732425 FBP2 fructose-1,6-bisphosphatase 2 This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008] 9 9 9 q22.3 67762024 67797107 - 97321002 97356075 - 94558714 94593832 - 1580863;2302851;2302970;6480464;6907045 11440903;4353083 10773464;12477932;15164053;15489334;16169070;16213487;18214967;19056867;19893584;20800603;24063558;8889548;9282826;9678974 8789 O00757;Q9UMR0 ABBA01043640;AJ238481;AJ238482;AJ238483;AJ238490;AJ573829;AL161728;AMYH02021258;BC113632;BC117477;BM686555;BU727940;CH471174;CR536483;NM_003837;Y10812 AAI13633;AAI17478;ADR83143;CAA71772;CAB53359;CAB53366;CAB58560;CAB58561;CAG38722;EAW92616;NP_003828;O00757 Hs.61255 2135967;2144821;2172921 070XB11;RH41808;STS-AA025150 MGC142192 D-fructose-1,6-bisphosphate 1-phosphohydrolase 2;FBPase 2;OTTHUMP00000021696;fructose bisphosphatase 2;fructose-1,6-bisphosphatase isozyme 2;hexosediphosphatase;muscle FBPase;muscle fructose-bisphosphatase APPROVED protein-coding ENSG00000130957 HGNC:3607 04322 603027 REVIEWED 1350241 FBN3 fibrillin 3 This gene encodes a protein that belongs to the fibrillin gene family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. While several transcript variants may exist for this gene, their full-length natures have not been described to date. [provided by RefSeq, Jul 2008] 19 19 19 p13 8001509 8083612 - 8130286 8214730 - 8065403 8147501 - 1580863;6480464;8554872 11347906;11941487;12477932;14702039;14962672;15146197;15203218;15221638;17785364;19192405;19692420;20200332;20630504;20855553;20970500;21411746;21900206;22301903;23265956 84467 M0QXL8;M0R2Q5;Q75N90 AB053450;AB177797;AB177798;AB177799;AB177800;ABBA01010860;ABBA01010861;ABBA01010862;ABBA01010863;ABBA01010864;ABBA01010865;AC008946;AC022146;AI341180;AK000036;AK074501;AK095563;AK096539;AK131282;AMYH02035414;AMYH02035415;AMYH02035416;AY165863;AY165864;AY165865;BC153882;CD634017;CH471139;CN369190;NM_032447;XM_006722925 AAI53883;AAO18145;AAO18146;AAO18147;BAB47408;BAD16733;BAD16734;BAD16735;BAD16736;BAD18457;BAG53085;BAG53318;EAW68946;EAW68947;EAW68948;NP_115823;Q75N90;XP_006722988 Hs.370362 1338351;1339586;1659282;1766979;2107085;5015404;5015861;5020740;5024413;5037552;7185473;7185938 D10S16;D13S1222;D19S884;D19S922;D8S2279;FBN3__7645;L17705;L17809;L17877;SHGC-152528 KIAA1776 fibrillin-3 APPROVED protein-coding ENSG00000142449 HGNC:18794 10538 608529 REVIEWED 1342852 FBRS fibrosin Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008] 16 16 16 p11.2 29616682 29623035 - 30675778 30682131 + 30664457 30670810 + 6480464 10493891;11733950;12477932;14702039;15489334;16344560;17083929;21890473;22325352;23455922;24457600;24550385;24778252;7892239;8889549;9809749 64319 H3BRE6;J3KNZ9;Q9HAH7 ABBA01042049;AC093249;AJ712524;AK021680;AK022551;AK093045;AK096322;AK298229;AMYH02031828;BG775600;CH471192;DA527487;DC408959;DR761499;NM_001105079 BAB13872;BAB14094;BAG53259;BAG60498;EAW52215;EAW52216;EAW52217;EAW52218;NP_001098549;Q9HAH7 Hs.247186 2181579 G24195 FBS;FBS1;FLJ11618;Fibrosin-1 fibrogenic lymphokine;fibrosin 1;probable fibrosin-1;probable fibrosin-1 long transcript protein APPROVED protein-coding ENSG00000156860 HGNC:20442 16354 608601 VALIDATED 2303695 FBRSL1 fibrosin-like 1 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; hydralazine; trichostatin A 12 12 12 q24.33 132766852 132861533 + 133067041 133161774 + 132490455 132585188 + 6480464;8554872 10997877;12477932;19851445;21890473;22325352;23455922;24457600 57666 Q9HCM7 AB046765;ABBA01012383;ABBA01012384;ABBA01012385;ABBA01012386;AC079031;AC131212;AF490258;AMYH02027587;AMYH02027588;AMYH02027589;AMYH02027590;BC013284;BC034807;BU616646;NM_001142641;XM_005266171;XM_005266172;XM_005266173;XM_005266174;XM_005266175;XM_005266176;XM_005266177;XM_005266178;XM_005266179;XM_005266180;XM_005266181;XM_006719741;XM_006719742;XR_429209 AAH13284;AAO85466;BAB13371;NP_001136113;Q9HCM7;XP_005266228;XP_005266229;XP_005266230;XP_005266231;XP_005266232;XP_005266233;XP_005266234;XP_005266235;XP_005266236;XP_005266237;XP_005266238;XP_006719804;XP_006719805 Hs.411138;Hs.656668 1857147;2152843 A005Q05;SHGC-57781 KIAA1545 AUTS2-like protein;HBV X-transactivated gene 9 protein;HBV XAg-transactivated protein 9;OTTHUMP00000237529;fibrosin-1-like protein protein-coding ENSG00000112787 HGNC:29308 VALIDATED 733428 FBN2 fibrillin 2 The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008] 5 5 5 q23-q31 123725605 124005813 - 127593601 127873735 - 128257909 128538042 - 1300320;1300364;1580863;6480464;7240710;8554872;8699517 11285249;11754102 10359653;10504303;10737800;10797416;10825173;10870517;12122015;12180907;12399449;12429738;12429739;12477932;12524050;12590922;12750963;15044481;15131124;15146197;15231748;15717329;16835936;17255108;17500595;18006876;1852206;19006240;19288010;19469909;19473076;19506372;19553259;19913121;20195245;20201926;20301560;20404337;20628086;21851253;21998595;22190034;22268729;22832960;23000965;23060561;23133647;23793025;7493032;7744963;8120105;8900230;9737771 2201 D6REJ2;D6RJI3;E9PHW4;P35556 AB209735;ABBA01068869;ABBA01068870;ABBA01068871;AC025169;AC034235;AC113387;AF193046;AK300440;AMYH02012168;AMYH02012169;AMYH02012170;AMYH02012171;BC040623;BF368029;BG009811;BX343658;CD243435;CH471062;CN300888;CN300893;CN300894;CN300904;CN481490;KF510259;NG_008750;NM_001999;U03272;X62009 AAA18950;AAG22474;ACX32323;BAD92972;BAG62163;CAB56757;EAW62388;EAW62389;EAW62390;EAW62391;NP_001990;P35556 Hs.519294 1663026;1663460;1725651;1741685;1762485;1780638;1847922;1855660;2124827;2143586;2149426;2152968;2159616;2191541;5491798 D5S1544;D5S1733;D5S2551;D5S2610;D5S2652;FBN2;G10669;G62035;GDB:182087;MARC_26144-26145:1030379236:1;RH45095;RH65083;SHGC-146305;WI-18592;bac51488S CCA;DA9 OTTHUMP00000223149;fibrillin 5;fibrillin-2 APPROVED protein-coding ENSG00000138829 HGNC:3604 00416 121050;612570 REVIEWED 1313599 FBXL14 F-box and leucine-rich repeat protein 14 Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 12 12 12 p13.33 3282418 3311437 - 1675159 1703331 - 1565993 1594165 - 737633;1580863;6480464 12477932 15489334;15520277;17207965;19955572;21145461;22939624;24035498 144699 Q8N1E6 ABBA01048823;AC004671;AC005182;AMYH02025873;BC028132;CH471116;NM_152441 AAH28132;ADQ31776;EAW88928;EAW88929;EAW88930;NP_689654;Q8N1E6 Hs.367956 1670594;1688765;1788774;2130620 D12S2131;RH11225;RH133478;WI-20556 Fbl14;MGC40195 F-box/LRR-repeat protein 14;OTTHUMP00000115427 APPROVED protein-coding ENSG00000171823 HGNC:28624 10949 609081 VALIDATED 731577 FBN1 fibrillin 1 This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008] 15 15 15 q21.1 25592970 25831601 - 48700503 48937985 - 48408306 48645788 - 1580378;1580379;1580380;1300362;1300363;1300361;1300319;1580863;1601144;1601145;6480464;7240710;7387265;7365077;7365047;7794799;7365080;7387264;7365039;7387262;7794797;7794798;8554872;8699517 11123012;11159866;11702223;12525539;12598898;12918850;15054843;15277214;16282705;16333834;16380460;16395273;17200203;24071006;24265020;24359594;7762551;8136837;8882780 10036187;10085138;10359653;10424889;10425041;10441597;10504303;10547375;10633129;10694921;10793130;10825173;10931876;11108952;11315929;11481325;11524736;11700157;11726670;11748851;11826022;11829507;11854120;11923248;11933199;12122015;12130535;12203987;12203992;12384286;12399449;12429738;12429739;12477932;12511552;12524050;12575662;12590922;12651868;12695261;12807887;12915484;12946356;1301946;14586646;14613297;14695540;14730633;15131124;15161620;15161917;15165854;15221638;15241795;15254584;15371449;15569675;15649891;15654955;15657057;1569206;15713466;15776436;15781745;15861007;15980072;16042404;16096271;16103519;16220557;16222657;16467653;16528372;16540720;16617303;16677079;16765689;16802364;16835936;16880403;16905551;16971892;17024364;17030689;17158461;17158881;17209430;17242066;17253931;17255108;17285469;17293099;17324963;17418587;17492313;17568394;17627385;17657824;17663468;17679947;17680538;1769651;17701892;17903305;17984934;17996480;18006876;18062611;18079676;18084245;18278837;18310266;18339631;18412115;18435798;18448684;18471089;1852206;1852207;1852208;1860873;18615205;18669635;18795226;18805282;19002209;19037100;19059503;19117906;19119630;19159394;19161152;19167375;19182256;19293843;19328768;19353630;19358237;19361604;19390640;19396033;19430350;19533785;19570982;19573590;19578796;19618372;19639654;19725129;19802897;19863550;19889633;19913121;19941982;19996017;20082464;20085885;20199707;20301293;20301299;20301510;20301533;20301776;20360993;20375004;20379614;20451256;20455198;20478419;20537417;20547088;20564469;20628086;20662850;20672986;20686071;20709720;20729124;20803651;20850568;20886638;21034599;21063442;21078624;21135753;21211293;21331051;21402694;21527992;21540769;21594992;21594993;21617610;21683322;21726527;21784848;21789464;21840105;21851253;21880733;21895641;21900206;21909107;21936929;21976953;22005308;22034023;22219643;22242013;22262941;22393277;22539873;22545955;22736615;22772377;22782528;22876116;22950452;23104139;23119075;23124041;23133647;23176764;23592911;23762390;23788249;23794388;23860323;23897642;23963449;23963856;24035709;24039054;24039232;24070235;24078565;24161884;24484584;24564502;24940037;24982166;3536967;7611299;7691719;7738200;7870075;7977366;8004112;8040326;8071963;8188302;8281141;8364578;8406497;8430317;8504310;8563763;8568869;8594563;8653794;8702639;8863159;8914744;8988160;9016526;9150726;9254848;9338581;9338588;9362480;9401003;9837823;9886271 2200 F6U495;H0YN80;H0YND0;P35555 AB177801;AB177802;AB177803;AB208840;ABBA01039136;ABBA01039137;ABBA01039138;ABBA01039139;AC022467;AC084757;AC084758;AK304737;AK309616;AMYH02030388;BC094721;BC146854;CH471082;GU143398;KF459685;L13923;NG_008805;NM_000138;S54426;W81203;X62008;X63556 AAB02036;AAB25244;AAI46855;ACZ58372;BAD16737;BAD16738;BAD16739;BAD92077;BAG65498;CAA45118;CAB56534;EAW77353;EAW77354;NP_000129;P35555 Hs.591133 1336374;1339071;1661020;1708084;1722939;1729149;1729151;1729153;1729155;1729285;1729287;1729289;1729291;1729293;1729295;1741687;1742055;1742057;1744463;1744465;1745793;1747021;1747023;1747025;1747027;1747029;1747031;1747033;1747035;1747037;1747039;1747041;1747043;1747045;1747047;1747049;1747051;1747053;1747055;1747057;1747059;1747061;1747063;1747065;1747067;1747181;1747183;1747185;1747187;1747189;1747191;1747193;1747195;1747197;1747199;1747201;1747203;1747205;1747207;1747209;1747211;1747213;1747215;1747217;1747219;1753899;1853469;1855954;2176970;2184836;2185656;2185930;5037552;5117142 D15S1255;D15S196;D15S992;D8S2279;G17855;G60567;G63892;G63901;G63902;G63904;G64163;G64177;G64179;G64180;G64181;G64182;G64936;G64937;G64942;G64943;G64944;G64946;G64947;G64948;G64949;G64950;G64962;G64963;G64964;G64965;G64966;G64968;G64969;G64970;G64971;G64972;G64973;G64974;G64977;G64995;G65277;G65279;G65281;G65285;G65289;G65290;G65291;G65293;G65294;G65296;G65297;G65298;G65302;G65304;G65305;G65306;G65326;G65327;G65329;G65330;GDB:182088;GDB:190047;GDB:190048;GDB:438900;GDB:455155;GDB:455176;GDB:636540;RH45122;RH45512;SHGC-108124;SHGC-56864;SHGC-81440;STS-R01937;WI-18561 ECTOL1;FBN;GPHYSD2;MASS;MFS1;OCTD;SGS;SSKS;WMS;WMS2 ACMICD;fibrillin 15;fibrillin-1 2289561 BW440_H APPROVED protein-coding ENSG00000166147 HGNC:3603 00618 102370;129600;134797;154700;184900;604308;608328;614185 REVIEWED 1313605 FBXL12 F-box and leucine-rich repeat protein 12 Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 19 19 19 p13.2 9816349 9825137 - 9920943 9930101 - 9810267 9819425 - 1580863;6480464 10531037;12477932;14702039;15489334;15520277;15761153;16169070;17207965;17704768;18660753;21139048;21145461;21163940;21890473;22505724;22939624;23324393;23707388;24035498 54850 K7EIK3;K7EIR3;K7EK37;K7ELM5;K7EPN7;K7EPT3;K7EQJ7;K7EQY7;K7ESL6;Q9NXK8 ABBA01029963;AC008752;AK000195;AK027004;AK093760;AL389936;AMYH02035476;BC001586;BX647073;CH471106;NM_017703;XM_005259964;XM_005259965;XM_005259966;XM_006722782 AAH01586;ADQ32318;BAA91002;BAB15622;BAG52760;EAW84051;EAW84052;EAW84053;NP_060173;Q9NXK8;XP_005260021;XP_005260022;XP_005260023;XP_006722845 Hs.12439 1734706;2132113;2132115 D19S698E;SHGC-36605;STS-R38103 FLJ20188;Fbl12 F-box protein FBL12;F-box/LRR-repeat protein 12 APPROVED protein-coding ENSG00000127452 HGNC:13611 12363 609079 PROVISIONAL 1322203 FBXL19 F-box and leucine-rich repeat protein 19 This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 16 16 16 p11.2 29337602 29361786 - 30934392 30960104 + 30923055 30948783 + 6480464 12477932;14702039;15489334;15520277;15547684;16344560;20211142;20953189;22274791;22660580;24035498;24684802 54620 B7Z7Y9;H3BME1;H3BPI8;H3BPZ0;H3BQP6;H3BTJ3;H3BVB1;H7C112;Q6PCT2 ABBA01042070;ABBA01042071;AC135048;AK098777;AK127701;AK302669;AL137589;AMYH02031836;AMYH02031837;BC032391;BC048811;BC059173;CH471192;CX781342;DA244744;DC325425;DC401737;NM_001099784;NM_001282351 AAH59173;BAC05410;BAH13775;CAB70830;EAW52187;EAW52188;EAW52189;EAW52190;NP_001093254;NP_001269280;Q6PCT2 Hs.152149 CXXC11;DKFZp434K0410;Fbl19;JHDM1C;MGC50505 F-box/LRR-repeat protein 19;OTTHUMP00000163236;OTTHUMP00000163237;jumonji C domain-containing histone demethylase 1C APPROVED protein-coding ENSG00000099364 HGNC:25300 12366 609085 REVIEWED 1319294 FBXL16 F-box and leucine-rich repeat protein 16 Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 942657 955990 - 742500 755825 - 692500 705825 - 6480464 11157797;12477932;14702039;15489334;15520277;15616553;20043084;21900206;24035498;24255178 146330 B3KR59;Q8N461 ABBA01030354;ABBA01030355;ABBA01030356;AE006464;AK091054;AMYH02031202;AMYH02031203;AMYH02031204;BC034014;BC036680;CH471112;NM_153350;XM_005255132;Z92544;Z97653 AAH34014;AAH36680;AAK61245;ACT64553;ACT64554;BAG52271;EAW85749;EAW85750;NP_699181;Q8N461;XP_005255189 Hs.513244 C16orf22;FLJ33735;Fbl16;MGC33974;c380A1.1 F-box/LRR-repeat protein 16;OTTHUMP00000115487;c380A1.1 (novel protein) APPROVED protein-coding ENSG00000127585 HGNC:14150 12365 609082 VALIDATED 2292065 FBXL19-AS1 FBXL19 antisense RNA 1 (head to head) 16 16 16 p11.2 29363207 29367157 + 30930640 30934590 - 30919319 30923269 - 12477932;14702039;8012384 283932 Q494R0 ABBA01042070;AC135048;AK090544;AK092263;AMYH02031836;BC101464;BC101988;BC105687;BC105926;CH471192;NR_024348;Z64539 BAC03841;EAW52191;Q494R0 Hs.711535 5015881;5016478;5020885;5022450;5022463;5022578;5493177 D10S275;D1S1423;D3S1673;GDB:335751;GDB:434012;L17791;UniSTS:484604 MGC125469;MGC125470;MGC125472;NCRNA00095 APPROVED ncrna ENSG00000260852 HGNC:27557 14149 VALIDATED 1353687 FBXL13 F-box and leucine-rich repeat protein 13 Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 7 7 7 q22.1 97260460 97523182 - 102453308 102715288 - 102812861 103074841 - 6480464 12477932;12853948;14702039;15342556;15489334;15520277;15820312;20379614;22939624;24035498;24165912;9847074 222235 C9JI88;E7ERH8;Q8N1P0;Q8NEE6 ABBA01057995;ABBA01057996;ABBA01057997;AC005250;AC006477;AC073127;AC243838;AK095387;AK097537;AL713709;AMYH02016446;AMYH02016447;AMYH02016448;AMYH02016449;AY359238;AY359239;BC020572;BC020575;BC026121;BC031285;BG717734;BP378950;CH471070;NM_001111038;NM_001287150;NM_145032;NR_105043;XM_005250205;XM_005250207;XM_005250208;XM_005250209;XM_005250212;XM_005250213;XM_006715897;XM_006715898 AAH20572;AAH20575;AAH26121;AAH31285;AAP22333;AAR13262;AAR13263;AAS00354;AAS07481;ABM82468;ABM85656;BAC04540;BAC05092;CAD28506;EAW83298;EAW83299;EAW83300;EAW83301;EAW83302;EAW83303;EAW83304;EAW83305;EAW83306;NP_001104508;NP_001274079;NP_659469;Q8NEE6;XP_005250262;XP_005250264;XP_005250265;XP_005250266;XP_005250269;XP_005250270;XP_006715960;XP_006715961 Hs.660029 1339220;1656518;1669996;1747809;1769726;1851982;1854720;2107283;2145387;2166434;5015861;7185938;7187435 D10S16;D7S1503;G10104;G30989;G31044;G66876;GDB:1317864;GDB:1318202;GDB:1318603;LRRC17__6427;SHGC-37419 FLJ38068;Fbl13;MGC21636 F-box/LRR-repeat protein 13;OTTHUMP00000211759;OTTHUMP00000211760;OTTHUMP00000211761;OTTHUMP00000211762;OTTHUMP00000211763;OTTHUMP00000211764 APPROVED protein-coding ENSG00000161040 HGNC:21658 12364 609080 VALIDATED 1343721 FBXL21 F-box and leucine-rich repeat protein 21 (gene/pseudogene) This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 6 tandem leucine-rich repeats. The amino acid sequence of this protein is highly similar to that of f-box and leucine-rich repeat protein 3A. Comparisons of this gene to orthologous sequences suggest that it may be a pseudogene, and may no longer express a functional protein.[provided by RefSeq, Aug 2009] 5 5 5 q31 131390736 131402098 + 135266006 135277367 + 135930317 135941678 + 1580863;6480464 10531035;12477932;16344560;18404645;19240061;20210993;20237496;24085301 26223 Q3KPF8;Q9UKT6 ABBA01068719;ABBA01068720;AC002428;AF129533;AMYH02012261;BC044938;BC106753;CH471062;DA633926;NM_012159 AAF04467;AAI06754;EAW62202;EAW62203;NP_036291;Q9UKT6 Hs.591275 FBL3B;FBXL3B;FBXL3P;Fbl21;MGC120237 F-box and leucine-rich repeat protein 3 pseudogene;F-box and leucine-rich repeat protein 3B;F-box protein Fbl3b;F-box/LRR-repeat protein 21;F-box/LRR-repeat protein 3B;OTTHUMP00000209342 APPROVED protein-coding ENSG00000164616 HGNC:13600 16431 609087 VALIDATED 1343078 FBXL3 F-box and leucine-rich repeat protein 3 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008] 13 13 13 q22 58477376 58499318 - 77579389 77601331 - 77005254 77027196 - 1580863;6480464 10531035;10531037;10828603;10945468;12477932;15489334;16344560;17207965;17463251;20360068;21890473;21906983;21963094;21987572;22268729;22505724;22939624;22975506;23453757;23503662;23616524;24085301 26224 C9J0Y7;Q9UKT7 ABBA01021659;ABBA01021660;AC001226;AF126028;AF129532;AI133484;AK025484;AK314442;AL833187;AMYH02028311;AMYH02028312;BC063796;BC072448;CH471093;DA119701;NM_012158;XM_005266336;XM_005266337 AAF04466;AAF37383;AAH72448;ADQ31985;BAG37051;EAW80563;NP_036290;Q9UKT7;XP_005266393;XP_005266394 Hs.508284 1647336;1715859;1773655;1788772 A006Y41;RH119624;RH131875;WI-19996 FBL3;FBL3A;FBXL3A F-box and leucine-rich repeat protein 3A;F-box protein Fbl3a;F-box/LRR-repeat protein 3;F-box/LRR-repeat protein 3A;OTTHUMP00000018519;OTTHUMP00000018520 APPROVED protein-coding ENSG00000005812 HGNC:13599 05737 605653 REVIEWED 1315065 FBXL15 F-box and leucine-rich repeat protein 15 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN G2/M transition of mitotic cell cycle; positive regulation of BMP signaling pathway; protein ubiquitination; FOUND IN cytoplasm; SCF ubiquitin ligase complex; INTERACTS WITH aflatoxin B1; copper(2+) sulfate; hydrogen peroxide 10 10 10 q24.32 97920469 97923791 + 104178979 104182894 + 102419222 102423137 + 1580863;6480464 12477932;14702039;15164054;15231747;15489334;17463251;19159283;21139048;21145461;21572392;22939624;23535732 79176 Q9H469;X6RCZ8;X6RGT4;X6RHD7;X6RJB2 ABBA01063159;AK122684;AL121928;AMYH02023695;BC002912;BC036120;BC130566;BI914195;CH471066;NM_024326;XM_005270149;XM_005270150;XM_005270151 AAH02912;AAH36120;AAI30567;EAW49699;NP_077302;Q9H469;XP_005270206;XP_005270207;XP_005270208 Hs.380081 1671679;1736140;1769799;1855821;2131105 D10S1397E;D10S2152;RH47391;SGC33233;SHGC-34547 FBXO37;FLJ16137;Fbl15;JET;MGC11279;PSD F-box only protein 37;F-box/LRR-repeat protein 15;OTTHUMP00000020367;OTTHUMP00000059115;OTTHUMP00000059124;OTTHUMP00000059125;pleckstrin and Sec7 domain protein protein-coding ENSG00000107872 HGNC:28155 610287 VALIDATED 736852 FBXL2 F-box and leucine-rich repeat protein 2 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 3 3 3 p22.3 33262399 33372286 + 33318934 33445505 + 33277442 33403519 + 632681;6480464 10508920 10531035;10531037;10945468;12477932;14702039;15489334;15893726;16169070;16344560;17463251;17784784;22020328;22323446;22399757;22455980;22939624;23370391;23604317;24035498 25827 B4DSB7;B4DY12;B4E1B8;F8WB01;F8WBS9;F8WBW7;F8WC58;F8WCQ8;F8WE99;Q9UKC9 ABBA01024906;ABBA01024907;AC122176;AC123900;AF174589;AF176518;AF186273;AK001271;AK001438;AK096492;AK294209;AK297534;AK298967;AK299665;AK302218;AK303764;AK316229;AK316383;AL049953;AMYH02006518;AMYH02006519;AMYH02006520;AU124816;BC031556;CH471055;CR457121;DA031508;NM_001171713;NM_012157;XM_005265014;XM_005265015;XM_005265016;XM_005265017;XR_427262 AAD56248;AAF03128;AAF04510;AAH31556;ABM82090;ABM85271;BAA91691;BAG50882;BAG57520;BAG59935;BAG61062;BAG61579;BAG63574;BAG64730;BAH14600;BAH14754;CAB43222;CAG33402;EAW64452;EAW64453;NP_001165184;NP_036289;Q9UKC9;XP_005265071;XP_005265072;XP_005265073;XP_005265074 Hs.475872 1651390;1727511;1728013;2121119 D3S3815;G63013;G63277;HSC28B082 DKFZp564P0622;FBL2;FBL3 F-box protein FBL2/FBL3;F-box protein containing leucine-rich repeats;F-box/LRR-repeat protein 2;OTTHUMP00000161310;OTTHUMP00000208924 APPROVED protein-coding ENSG00000153558 HGNC:13598 05736 605652 REVIEWED 1350469 FBXL22 F-box and leucine-rich repeat protein 22 This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010] 15 15 15 q22.31 40768998 40774059 + 63889327 63894627 + 63597128 63602428 + 737633;6480464 12477932 11076863;14702039;15489334;15489336;15520277;16381901;20379614;22972877;24250222;24324551 283807 H0YMQ4;Q6P050;R4GNI3 AA495872;ABBA01038909;AC118274;AK096945;AMYH02030589;BC065833;CH471082;NG_027784;NM_203373;XM_005254320;XM_005254321;XM_006720477;XM_006720478 AAH65833;CAL37683;CAL37880;CAL38041;CAL38212;CAL38748;EAW77653;NP_976307;Q6P050;XP_005254377;XP_005254378;XP_006720540;XP_006720541 Hs.631163;Hs.656997 2116164 WI-14801 FLJ39626;Fbl22;MGC75496 F-box and leucine-rich protein 22;F-box/LRR-repeat protein 22;OTTHUMP00000163824 APPROVED protein-coding ENSG00000197361 HGNC:27537 16432 609088 REVIEWED 1348950 FBXL17 F-box and leucine-rich repeat protein 17 Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 5 5 5 q21.3 103134100 103657168 - 107194734 107718080 - 107859033 108382564 - 1580863;6480464;8554872 12477932;14702039;15520277;18820369;20200978;20379614;21145461;21906983;22952603;23118974;24035498;24322204;8889548 64839 Q9UF56 AA988642;AB533280;ABBA01069107;ABBA01069108;ABBA01069109;AC008462;AC008513;AC011419;AC092274;AC113358;AI826672;AK126722;AK172822;AL133602;AMYH02011933;AMYH02011934;AMYH02011935;AMYH02011936;AMYH02011937;AMYH02011938;AMYH02011939;BC018548;BC063316;BC126144;BC126146;BM682767;CH471086;KF457964;NM_001163315;XM_005272048;XM_005272050;XR_427717 AAI26145;AAI26147;ADR82906;BAC86658;BAL72154;CAB63737;EAW49061;EAW49062;NP_001156787;Q9UF56;XP_005272105;XP_005272107 Hs.657225 1681006;1685868;1701406;1710658;1716235;1723669;1724505;1729489;1735496;1749375;1755177;1770520;1771890;1773393;1777322;1785742;1853575;2139022;2146193;2165554;2172785;2179812;5022578;5094961 A008D05;D1S1423;D5S1616E;D5S1700;D5S1847;D5S1916;D5S82;FBXL17;G09548;L28397;RH104333;RH121144;RH122353;RH122511;RH65658;RH69730;RH80125;RH99311;SHGC-111127;SHGC-142098;SHGC-81045;SHGC-81703;STS-N34057;WI-18334 DKFZp434C1715;FBXO13;Fbl17;Fbx13;MGC161422;MGC161424 F-box only protein 13;F-box/LRR-repeat protein 17;OTTHUMP00000216491;OTTHUMP00000216505 APPROVED protein-coding ENSG00000145743 HGNC:13615 10950 609083 VALIDATED 1352891 FBXL18 F-box and leucine-rich repeat protein 18 Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 7 7 7 p22.2 5475728 5513156 - 5515428 5553423 - 5475797 5513792 - 1580863;6480464 12477932;14702039;15489334;15520277;16189514;18247557;19060904;21139048;21145461;21906983;22797925;22939624;22939629;23000965;24035498;24068947;24457600;24654937;24657926 80028 F5H4Z4;H0Y6I6;Q96ME1 AA878073;ABBA01039457;ABBA01039458;ABBA01039459;AC006483;AC092171;AK001638;AK021529;AK057042;AK095394;AK123535;AK130444;AK294949;AMYH02015140;AMYH02015141;BC004228;BC006426;BC013435;BC015445;BC024256;BC042819;CH471144;NM_024963;XM_005249853;XM_005249854 AAH04228;AAH06426;AAH13435;AAH24256;BAB13838;BAB71354;BAC85637;BAG53041;BAG58024;EAW87337;EAW87338;EAW87339;EAW87340;NP_079239;Q96ME1;XP_005249910;XP_005249911 Hs.623974;Hs.706587 2160059;2183516;5015619;5015861;5016781;5020948;5022450;5024039;5037552;5109281;7185938 D10S16;D10S275;D11S3114;D16S325;D1S1425;D8S2279;G35510;SHGC-67307;STS-T59353;WI-17897 FLJ10776;FLJ11467;FLJ26934;FLJ38075;FLJ41541;Fbl18 F-box/LRR-repeat protein 18;OTTHUMP00000200620;OTTHUMP00000200621 APPROVED protein-coding HGNC:21874 07753 609084 VALIDATED 1353759 FBXL6 F-box and leucine-rich repeat protein 6 This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 8 8 8 q24.3 141754472 141757513 - 145579088 145582183 - 144355428 144358523 - 1580863;6480464 10531035;10531037;12477932;14702039;15489334;15520277;16341674;18426905;19159283;21890473;21906983;23000965;8125298 26233 Q71RB6;Q8N531 ABBA01005210;AC233992;AF174592;AF205589;AF370422;AK026541;AK223088;AL713783;AMYH02019003;AW236517;BC033066;BM761056;CH471162;NG_032872;NM_012162;NM_024555 AAF04513;AAH33066;AAQ15258;BAB15499;BAD96808;EAW82117;EAW82118;EAW82119;EAW82120;EAW82121;EAW82122;NP_036294;NP_078831;Q8N531 Hs.12271 1675786;1792782 PMC164520P1;RH15614 FBL6;FBL6A;PP14630 F-box protein Fbl6;F-box/LRR-repeat protein 6;OTTHUMP00000228750;OTTHUMP00000228751 APPROVED protein-coding ENSG00000182325 HGNC:13603 16429 609076 REVIEWED 1352579 FBXL8 F-box and leucine-rich repeat protein 8 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51702134 51706321 + 67193891 67198077 + 67159988 67164174 + 1580863;6480464 10531037;12477932;14702039;15489334;19159283;19913121;20628086;21145461;21988832;22939624;24250222 55336 E5RFX2;E5RH15;E5RHS9;E5RIE9;E5RIS0;J3QRE3;Q96CD0 ABBA01025431;AC074143;AK002140;AMYH02032225;BC014414;CH471092;NG_009294;NM_018378 AAH14414;ABM84591;ABM86700;BAA92103;EAW83082;NP_060848;Q96CD0 Hs.710714 FBL8;FLJ11278;MGC19959 F-box protein FBL8;F-box/LRR-repeat protein 8;OTTHUMP00000174809;OTTHUMP00000224681 APPROVED protein-coding ENSG00000135722 HGNC:17875 16430 609077 REVIEWED 1315757 FBXL5 F-box and leucine-rich repeat protein 5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010] 4 4 4 p15.32 16069952 16121669 - 15606007 15661487 - 15604384 15659867 - 1580863;6480464 10531035;10531037;10945468;11076863;11230166;12477932;14702039;15489334;15489336;16344560;16381901;17532294;19762596;19762597;21145461;21572392;21900206;21906983;21988832;22253436;22268729;22648410;22975506;23135277;24035498;24157836;24250222;24778179;24867096;8619474;9110174 26234 D6R9Y4;D6RB50;D6RBW7;D6RCR7;D6RED6;D6RHC3;H0Y9Y0;H0YAG2;Q9UKA1 ABBA01032571;ABBA01032572;AC114744;AC116651;AF052097;AF142481;AF157323;AF174591;AF176700;AF199420;AI858616;AK000153;AK295510;AK310860;AL832808;AMYH02008798;AMYH02008799;AMYH02008800;BC012320;BC030656;BF432189;BI464829;BQ008436;BX537957;CH471069;DB080171;NM_001193534;NM_001193535;NM_012161;NR_036464;XM_006713959;XM_006713960 AAF03700;AAF04512;AAF09249;AAF66616;AAF67489;AAH30656;AAY40929;ABM83378;ABM86590;BAA90978;BAG58427;CAD97924;CAL37543;CAL38352;EAW92736;EAW92737;EAW92738;EAW92739;NP_001180463;NP_001180464;NP_036293;Q9UKA1;XP_006714022;XP_006714023 Hs.643433;Hs.714386 1768445;1778318;2107087;2120100;2147854;2174676;2180339;5491747 D4S2682;D4S3149;FBXL5;FBXL5__7649;G33822;RH36445;SHGC-36262;SHGC-63591 FBL4;FBL5;FLR1 F-box protein FBL4/FBL5;F-box protein FBL5;F-box/LRR-repeat protein 5;OTTHUMP00000122631;OTTHUMP00000217784;OTTHUMP00000217786;p45SKP2-like protein APPROVED protein-coding ENSG00000118564 HGNC:13602 05739 605655 REVIEWED 1345687 FBXL20 F-box and leucine-rich repeat protein 20 Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 17 17 17 q12 34069835 34218841 - 37408897 37558530 - 39252644 39402277 - 737633;1580863;6480464;8554872 12477932 15489334;15520277;16344560;17207965;19124506;21399635;22939629;23000965;23023584 84961 J3KTA1;J3QKL3;Q96IG2 ABBA01031870;ABBA01031871;ABBA01031872;ABBA01031873;ABBA01031874;ABBA01031875;ABBA01031876;ABBA01031877;ABBA01031878;AC005288;AC015910;AK024690;AK123048;AK291844;AK312612;AL117623;AMYH02033375;AMYH02033376;AMYH02033377;BC007557;BC042012;CH471152;DA747594;DQ223959;NM_001184906;NM_032875;XM_005257746;XM_005257747 AAH07557;ABB03906;ADQ31807;BAF84533;BAG35499;BAG53862;EAW60573;EAW60574;NP_001171835;NP_116264;Q96IG2;XP_005257803;XP_005257804 Hs.462946 1698170;1729229;1783606;2118046;2140237;2148565;5014051;5015619;5016478;5016700;5022200;5022322;5022578;5024039;5037552;5117897;5120437 D11S2560;D11S3114;D16S325;D1S1423;D8S2278;D8S2279;G62211;GDB:315881;GDB:434012;GDB:631813;L18426;RH102620;RH46383;RH70794;RH79802;SHGC-171511;STS-W38387 DKFZp564O2364;FLJ21037;Fbl2;Fbl20;MGC15482;RP11-690G19.3;SCR F-box protein FBL2;F-box/LRR-repeat protein 2-like;F-box/LRR-repeat protein 20;SCRAPPER APPROVED protein-coding ENSG00000108306 HGNC:24679 10951 609086 VALIDATED 1314074 FBXL7 F-box and leucine-rich repeat protein 7 This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 5 5 5 p15.1 15523976 15963562 + 15500305 15939905 + 15500196 15939796 + 1580863;6480464;8554872 10048485;10531035;10531037;10945468;12168954;12477932;14702039;15070733;15489334;16000324;17704768;18426905;20379614;20418484;21832049;22306998;22566634;22589738;23251661;24035498;24486069 23194 J3KNM9;Q9UJT9 AB020647;ABBA01020651;ABBA01020652;ABBA01020653;ABBA01020654;AC010477;AC010638;AC027332;AC091872;AC091970;AF174593;AF199356;AK021671;AK309585;AMYH02010906;AMYH02010907;AMYH02010908;AMYH02010909;AMYH02010910;AMYH02010911;AMYH02010912;AMYH02010913;AMYH02010914;AY425960;BC050571;BC075061;BC136424;BU633031;CH471102;CS185586;KF457864;NM_001278317;NM_012304;XM_005248273 AAF04514;AAF09248;AAH75061;AAI36425;AAR07953;BAA74863;CAJ42767;EAX08028;EAX08029;NP_001265246;NP_036436;Q9UJT9;XP_005248330 Hs.433057 1336982;1338013;1689227;1710240;1717451;1718989;1719047;1747761;1750549;1852602;1857342;2135696;2142021;2142310;2146554;2156262;2162273;2163824;2165522;2180069 A003P38;D5S1954;D5S1989;D5S2568;D5S2607;G16913;G19185;G66810;RH11593;RH122229;RH123203;RH123231;RH16291;RH36119;RH79773;SHGC-111858;SHGC-34932;SHGC-85210;STS-W86978;WI-21928 FBL6;FBL7 F-box protein FBL6/FBL7;F-box protein Fbl7;F-box/LRR-repeat protein 7;OTTHUMP00000220749 APPROVED protein-coding ENSG00000183580 HGNC:13604 05740 605656 REVIEWED 1348534 FBXO11 F-box protein 11 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010] 2 2 2 p16.3 47873581 47972357 - 48034059 48133524 - 47806920 47906385 - 6480464;6484113;8554872 10531035;10531037;11775060;12477932;14702039;15489334;15520277;16487488;16847180;17098746;17642606;18029348;18247557;19322201;19360327;19615732;20379614;20514423;20646433;21090589;21139048;21145461;21293382;21906983;21963094;21987572;22113614;23110726;23319600;23478441;23478445;23892434;23894747;24457600;8125298 80204 B3KUR1;B5MCV6;C9IYF0;E7EP88;H0YAV3;Q86XK2 ABBA01075176;ABBA01075177;ABBA01075178;AC006509;AC079807;AF174599;AF176706;AF264714;AF351618;AI879484;AK022735;AK025477;AK097734;AK223592;AK292877;AK297444;AK304140;AK315108;AL117620;AMYH02003767;AMYH02003768;AY827075;BC012728;BC043258;BC130445;BC136480;CH471053;DN994547;NG_008397;NM_001190274;NM_025133;XM_005264572;XM_005264573;XM_005264574 AAF04520;AAF17611;AAF76888;AAH12728;AAH43258;AAI30446;AAI36481;AAN76518;AAV87312;AAY24083;ADR83434;BAB14214;BAB15143;BAD97312;BAF85566;BAG53523;BAG59870;BAG65034;CAB56019;EAX00202;EAX00203;EAX00204;EAX00205;EAX00206;EAX00207;NP_001177203;NP_079409;Q86XK2;XP_005264629;XP_005264630;XP_005264631 Hs.352677 1683819;1788316;1788626;1795816;5127247 FBXO11_633;G67493;RH126790;RH75921;RH77959 FBX11;FLJ12673;MGC44383;PRMT9;UBR6;UG063H01;VIT1 F-box only protein 11;OTTHUMP00000159398;OTTHUMP00000200455;protein arginine N-methyltransferase 9;ubiquitin protein ligase E3 component n-recognin 6;vitiligo-associated protein 1;vitiligo-associated protein VIT-1 APPROVED protein-coding ENSG00000138081 HGNC:13590 06985 607871 REVIEWED 1312847 FBXO16 F-box protein 16 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 8 8 8 p21.1 27245788 27307641 - 28285925 28347835 - 28428408 28490318 - 1580863;6480464 10531035;10531037;12243353;12477932;14702039;15489334;16712791;19850743 157574 E5RFF8;E5RIL5;G3V0Z8;H0YC72;J3KNU2;Q8IX29 AA765256;ABBA01005601;ABBA01005602;ABBA01005603;AC011132;AC025871;AF453435;AK098243;AL560247;AMYH02017685;AMYH02017686;AMYH02017687;BC074986;BC102026;BC102027;BC102028;CB134505;CH471080;NM_001258211;NM_172366 AAH74986;AAI02027;AAI02028;AAI02029;AAN76812;EAW63512;EAW63513;EAW63514;EAW63515;EAW63516;EAW63517;EAW63518;NP_001245140;NP_758954;Q8IX29 Hs.741522 1650305;1745919;1760679;1770871;2118359;2172091 1814;D8S1407E;G09787;G64297;RH66113;SHGC-144221 FBX16;MGC125923;MGC125924;MGC125925 F-box only protein 16;OTTHUMP00000128340;OTTHUMP00000225350;OTTHUMP00000225351 APPROVED protein-coding ENSG00000214050 HGNC:13618 16347 608519 REVIEWED 1318004 FBXO17 F-box protein 17 This gene encodes a member of the F-box protein family which is characterized by the F-box motif. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 19 19 19 q13.2 36234470 36268805 - 39432041 39466453 - 38941401 38975813 - 6480464 10531037;11178263;12383498;12477932;14702039;15489334;17672918;18203720;19295130;19615732;21139048;21145461;21640084;22939624;8889548 115290 M0QYI3;M0QYV7;M0QZ95;Q96EF6 ABBA01040710;ABBA01040711;ABBA01040712;AC011455;AF386743;AI050825;AK021860;AK057934;AMYH02036084;BC012385;BM711851;BX338290;CA429117;CF594009;CH471126;NM_024907;NM_148169;NR_104026 AAH12385;AAL37625;ABM82255;ABM84283;ABM85438;ABM87675;BAB71616;EAW56853;EAW56854;EAW56855;NP_079183;NP_680474;Q96EF6 Hs.531770 FBG4;FBX26;FBXO26;FLJ11798;FLJ25205;FLJ58300;Fbx17;MGC9379 F-box only protein 17;F-box only protein 26;F-box protein FBG4 APPROVED protein-coding ENSG00000269190 HGNC:18754 16436 609094 REVIEWED 1313923 FBXL4 F-box and leucine-rich repeat protein 4 This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 6 q16.1-q16.3 99965788 100040008 - 99321601 99395882 - 98873725 98948006 - 1580863;6480464;8699517;7240710;8554872 10531035;10531037;10945468;11178263;12477932;14574404;15489334;16344560;18029348;21757720;21890473;23993193;23993194;24035498 26235 Q9UKA2 ABBA01014492;ABBA01014493;ABBA01014494;AF174590;AF176699;AF199355;AI935511;AJ420594;AK308736;AK313076;AL022395;AL523022;AMYH02014180;AMYH02014181;BC032641;BC039819;BC055010;BC091484;BQ213738;CH471051;DA391493;DA782779;NG_033903;NM_001278716;NM_012160;NR_103836;NR_103837;XM_005266930;XM_006715458 AAF03699;AAF04511;AAF09247;AAH55010;AAH91484;BAG35902;EAW48488;EAW48489;EAW48490;NP_001265645;NP_036292;Q9UKA2;XP_005266987;XP_006715521 Hs.536850 1668644;1680795;1690608;1699834;1706854;1707246;1721937;1752429;2116710;2134523;2183493;5037552 D8S2279;G60001;RH103524;RH45218;RH68518;RH92465;RH93324;SHGC-106391;SHGC-52790;SHGC-79218;SHGC-80910;WI-17905 FBL4;FBL5;MTDPS13 F-box protein FBL4;F-box protein FBL4/FBL5;F-box/LRR-repeat protein 4;OTTHUMP00000016888 APPROVED protein-coding ENSG00000112234 HGNC:13601 05738 605654;615471 REVIEWED 1313507 FBXO10 F-box protein 10 Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 9 9 9 p13.2 37444118 37509479 - 37510889 37576250 - 37510892 37576253 - 1580863;1601189;6480464 17404222 10531035;10531037;11181995;12477932;14702039;15146197;15164053;15520277;19124506;19300908;20379614;20554749;21145461;22939624;23138933;23319600;23431138 26267 F5GXN9;J3KN78;Q59F51;Q9UK96 AB209610;ABBA01050392;ABBA01050393;ABBA01050394;AF174598;AF176705;AI475671;AK123986;AL513165;AMYH02019496;BC013747;BC125124;BC125125;BC140785;BC171785;BU623815;CH471071;CN411883;NM_012166;XM_005251439;XM_006716754 AAF03705;AAF04519;AAI25125;AAI25126;AAI40786;AAI71785;BAD92847;EAW58274;EAW58275;EAW58276;NP_036298;Q9UK96;XP_005251496;XP_006716817 Hs.709527 1715307;1770886;1772549;1777552;1777561;2147292;2167229;2169193 A004G26;A008K33;Cda0wc05;D9S1718;RH120485;RH45392;RH48090;WI-18403 FBX10;FLJ41992;MGC149840;PRMT11 F-box only protein 10;F-box protein Fbx10;OTTHUMP00000021390 APPROVED protein-coding ENSG00000147912 HGNC:13589 609092 VALIDATED 1321642 FBXO15 F-box protein 15 Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 18 18 18 q22.3 68605113 68679631 - 71740588 71815100 - 74073252 74147926 - 1580863;6480464;8554872 10531037;12477932;12665572;14702039;15489334;15520277;17207965;23408906;23465077;23509962;23728906;23870195;24250222;24376456;24703837;8889548 201456 J3KRQ6;J3KRS5;J3KRT3;J3KS84;J3QKV0;J3QL50;J3QLF9;J3QRE7;Q8NCQ5 ABBA01056323;AC084702;AC090125;AK093252;AK094215;AMYH02034988;BC029579;BI829755;BU729305;CH471117;DB447209;NM_001142958;NM_152676;XM_006722416 AAH29579;ADQ31818;BAG52845;EAW66536;EAW66537;EAW66538;EAW66539;NP_001136430;NP_689889;Q8NCQ5;XP_006722479 Hs.664011 1734580;1750217;2172783;2217318 D18S938E;FBX15_2835;RH68742;SHGC-112312 FBX15;MGC39671 F-box only protein 15;OTTHUMP00000163743 APPROVED protein-coding ENSG00000141665 HGNC:13617 16435 609093 REVIEWED 1315406 FBXO22 F-box protein 22 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 15 15 15 q24.2 53122128 53152874 + 76196200 76227609 + 75903859 75935268 + 1580863;6480464;8554872 10531035;10531037;12477932;12481031;14702039;15489334;15520277;17207965;17463251;17855421;18247557;18922183;19615732;20728256;21139048;21145461;21768309;21890473;21906983;21963094;22053931;22268729;22505724;22761574;23000965;24816145;8125298 26263 H3BRE0;H3BTH6;H3BTR7;H3BUC1;H3BVA4;Q8NEZ5 ABBA01060541;AC027104;AF174602;AK024048;AK026282;AK223500;AK294311;AK307084;AL705285;AL705308;AMYH02030821;AW292124;AY005144;BC020204;BC032540;BC039024;BC041691;BE738571;BG328756;CH471136;NM_012170;NM_147188;NR_037623 AAF04523;AAF89095;AAH20204;AAH32540;AAH39024;AAH41691;ADQ33005;BAB14798;BAD97220;BAG57588;EAW99229;EAW99230;EAW99231;EAW99232;NP_036302;NP_671717;Q8NEZ5 Hs.591115 1685908;1688390;1696646;2143827;2178756 G35320;RH45660;RH75046;RH99271;SHGC-82957 FBX22;FISTC1;FLJ13986;MGC31799 F-box only protein 22;F-box protein FBX22p44;FIST domain containing 1;OTTHUMP00000183525 APPROVED protein-coding ENSG00000167196 HGNC:13593 16437 609096 REVIEWED 1314839 FBXO18 F-box protein, helicase, 18 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 10 10 10 p15.1 5862606 5909945 + 5931535 5979558 + 5889572 5937595 + 6480464;8554872 10531037;11956208;12477932;14702039;15118074;15164054;15489334;16169070;16344560;16385451;17724085;18029348;18187620;19736316;20453838;21139048;21145461;22505724;22939624;23319600;23361013;23393192;23466708;23677613;24108124;24332808;8889548 84893 B3KV95;Q2TAK1;Q8NFZ0 ABBA01034769;ABBA01034770;AF380349;AF454502;AF456237;AI818794;AK027381;AK027496;AK095343;AK122753;AK226128;AK315173;AL133069;AL137186;AL832251;AMYH02022051;BC006430;BC012762;BC020266;BC032674;BC080629;BC110884;BC113375;BC113377;CH471072;CN478453;DA326341;DB099150;NM_001258452;NM_001258453;NM_032807;NM_178150;XM_006717516;XM_006717517 AAH06430;AAH12762;AAH32674;AAH80629;AAI10885;AAI13376;AAI13378;AAM73631;AAP97700;AAP97705;BAB55073;BAB55154;BAC04535;BAG37614;BAG53707;CAB61392;EAW86424;EAW86425;EAW86426;EAW86427;EAW86428;NP_001245381;NP_001245382;NP_116196;NP_835363;Q8NFZ0;XP_006717579;XP_006717580 Hs.498543 1671878;1688380;1722107;1850956;2217320;5015879;5022578;5022651 A001Z43;D10S1596;D11S2921;D1S1423;FBXO18_2669;G60095;GDB:314949;RH44243 FBH1;FLJ14590;Fbx18;MGC131916;MGC141935;MGC141937 F-box DNA helicase 1;F-box only protein 18;F-box only protein, helicase, 18;OTTHUMP00000019016;OTTHUMP00000019017 APPROVED protein-coding ENSG00000134452 HGNC:13620 06243 607222 REVIEWED 1602355 FBXO22-AS1 FBXO22 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 15 15 15 q24.2 53150954 53151401 - 76225024 76225471 - 75932683 75933130 - 8554872 21145461;21963094 692224 AA843761;AA931120;ABBA01060541;AC027104;AI868357;AMYH02030821;NR_003136 Hs.591115 1685908;1688390;2143827 G35320;RH75046;RH99271 FBXO22OS;FISTC1OS;HsT18082;NCRNA00053 APPROVED ncrna HGNC:31025 PROVISIONAL 1343305 FBXO27 F-box protein 27 Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 19 19 19 q13.2 36317092 36325633 - 39514661 39523198 - 39024021 39033015 - 1580863;6480464 12383498;12477932;126433;15489334;15520277;16226712;16682404;17207965;18203720;19322201;21640084;22939624;23464991 126433 M0QYQ6;M0R0I8;M0R1C3;Q8NI29 ABBA01040716;AC010605;AF436061;AMYH02036085;BC014527;BC030060;CH471126;NM_178820;XM_006723017 AAH14527;AAH30060;AAM27918;ADQ32620;EAW56856;NP_849142;Q8NI29;XP_006723080 Hs.187461 5022578;5037552 D1S1423;D8S2279 FBG5;Fbx27 F-box only protein 27;F-box protein FBG5;F-box/G-domain protein 5 APPROVED protein-coding ENSG00000161243 HGNC:18753 16440 609099 PROVISIONAL 732900 FBXO2 F-box protein 2 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 10820505 10826801 - 11707924 11714888 - 11647868 11654831 - 1580863;6480464;6907045 10531035;10531037;12140560;12383498;12477932;12904574;15109709;15342556;15489334;15723043;16226712;16275327;16682404;16710414;17116465;17389369;17494702;18203720;18284940;19159283;20682791;20854419;21135578;21565611;22917612;23319600;7458746;9857061 26232 Q9UK22;R4GNH2 ABBA01003054;AF174594;AF187318;AK308531;AK313019;AL031731;AMYH02000297;AW138262;AW162121;BC014957;BC025233;BC096747;BE464909;BF967195;BM128229;BP209877;CH471130;CR542110;H18283;NM_012168;XR_244788 AAF01822;AAF04515;AAH25233;AAH96747;ABM83774;ABM83775;ABM87094;BAG35854;CAG46907;EAW71689;NP_036300;Q9UK22 Hs.132753;Hs.556006 2118389;2124491 G29173;WI-20866 FBG1;FBX2;Fbs1;NFB42;OCP1 F-box gene 1;F-box only protein 2;OTTHUMP00000002066;neural f box protein nfb42;organ of Corti protein 1 APPROVED protein-coding ENSG00000116661 HGNC:13581 06171 607112 REVIEWED 1314921 FBXO3 F-box protein 3 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq, Jul 2008] 11 11 11 p13 33909992 33943582 - 33762490 33796071 - 33740944 33774525 - 1580863;6480464;8554872 10531035;10531037;10945468;11230166;12477932;12481031;14702039;18809579;19615732;20379614;21139048;21145461;21890473;21906983;21963094;21987572;22190034;22797925;22939624;23000965;23542741;23870195;24403578;24778252 26273 B4E3U2;E9PJM3;E9PL46;G3V1E0;Q49AF1;Q9UK99 AB209039;ABBA01060881;AC113192;AF174595;AF176702;AK001943;AK128454;AK300721;AK304866;AK316286;AL049629;AL136625;AL832826;AMYH02024574;BC017107;BC039291;BC046110;BG716664;CH471064;NM_012175;NM_033406;XM_005252851 AAF03702;AAF04516;AAH39291;AAH46110;ACE86894;ACE87581;BAA91991;BAD92276;BAG54678;BAG65604;BAH13334;BAH14657;CAB66560;EAW68186;EAW68187;EAW68188;EAW68189;EAW68190;EAW68191;NP_036307;NP_208385;Q9UK99;XP_005252908 Hs.406787 1770325;1777636;1797522;1853604;1856841;2156473;5022720;5024545 A007J20;D11S4719;D1S3695;FBXO3;FBXO3_2462;SGC44450;SHGC-44450;WI-11454 DKFZp564B092;FBA;FBX3 F-box only protein 3;F-box protein FBX3;OTTHUMP00000232318;OTTHUMP00000232321;OTTHUMP00000232322;OTTHUMP00000232323;OTTHUMP00000232417 APPROVED protein-coding ENSG00000110429 HGNC:13582 16433 609089 REVIEWED 1603223 FBXO25 F-box protein 25 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p23.3 324725 387793 + 356808 419876 + 406808 469876 + 6480464 10531035;10531037;12477932;15489334;16278047;16714087;16751776;17207965;18287534;20473970;21596019;21890473;21988832;22939624;23940030;7566098 26260 B4DYA3;E5RFH9;H0YBS4;Q8TCJ0 AA316216;AB070270;ABBA01007277;AC083964;AF174605;AF419858;AI223050;AK302334;AMYH02017215;AMYH02017216;BC012143;BC020249;BC035555;BC050393;CH471181;DQ586074;NM_012173;NM_183420;NM_183421;XM_005266029;XM_005266030;XM_005266031;XM_005266032;XM_005266033 AAF04526;AAH20249;AAH50393;AAP97293;ADQ32194;BAB85128;BAG63665;EAW51450;EAW51451;EAW51452;EAW51453;EAW51454;EAW51455;NP_036305;NP_904356;NP_904357;Q8TCJ0;XP_005266086;XP_005266087;XP_005266088;XP_005266089;XP_005266090 Hs.438454 1644506;1666040;1677758;1687079;1700288;1701454;1732055;1772408;1848783;2163848;2171794;2217322 A004A46;D8S1386E;D8S1590;D8S596;FBXO25_2899;NIB9;RH103762;RH104359;RH40549;SHGC-16183;WI-20786;WIAF-1550 FBX25;MGC20256;MGC51975 F-box only protein 25;F-box protein Fbx25;OTTHUMP00000115396;OTTHUMP00000115397;OTTHUMP00000115399 APPROVED protein-coding ENSG00000147364 HGNC:13596 16439 609098 REVIEWED 1312107 FBXO28 F-box protein 28 Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 1 1 1 q42.11 197492695 197540680 + 224301789 224349749 + 224114087 224162047 + 737633;1580863;6480464;8554872 12477932 14702039;15146197;15342556;15489334;15520277;16189514;16344560;16710414;17081983;20360068;21890473;21906983;21988832;22939624;22939629;23000965;23455922;23503679;23776131;24357076;8570611;9455484 23219 B4E0H5;Q9NVF7 AB007952;ABBA01009711;ABBA01009712;ABBA01009713;AI354536;AK001628;AK303381;AK307892;AL390122;AMYH02002770;BC014378;BC031576;BP249147;CH471098;CN415382;DB136175;NM_001136115;NM_015176;NR_049764;U38437 AAH31576;ADZ15335;BAA32327;BAA91795;BAG64437;EAW69709;EAW69710;NP_001129587;NP_055991;Q9NVF7 Hs.64691;Hs.713992 1664565;1699758;1781502;2107089;2126165;2162989;2177782 FBXO28__7651;RH103485;RH68712;SHGC-141518;SHGC-57931;SHGC-76421;SHGC-76422 CENP-30;FLJ10766;Fbx28;KIAA0483 F-box only protein 28;OTTHUMP00000035597;OTTHUMP00000228322;centromere protein 30 APPROVED protein-coding ENSG00000143756 HGNC:29046 12367 609100 VALIDATED 1347238 FBXO30 F-box protein 30 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008] 6 6 6 q24 146859626 146876275 - 146119271 146135929 - 145798135 145864407 - 1580863;6480464 12477932;12536519;12903040;14574404;14702039;15489334;15520277;15761153;18247557;19322201;20360068;20936779;21139048;21145461 84085 Q8TB52 ABBA01025726;AF248640;AK055919;AK123026;AK124138;AK313613;AL356599;AMYH02014652;BC024326;CD109841;CH471051;NM_032145;XM_005267159;XM_006715575 AAH24326;AAK30299;BAG36376;EAW47841;NP_115521;Q8TB52;XP_005267216;XP_006715638 Hs.421095 1644859;1649066;1681797;1693778;1756041;1757265;1795820;1847451 FBXO30_1425;RH69898;RH70347;SHGC-142852;SHGC-144682;SHGC-2477;SHGC-58853;WI-9997 FLJ41030;Fbx30;MGC21674 F-box domain protein;F-box only protein 30;F-box only protein, helicase, 18;OTTHUMP00000017362 APPROVED protein-coding HGNC:15600 10953 609101 REVIEWED 8694588 FBXO3-AS1 FBXO3 antisense RNA 1 (head to head) 11 11 p13 33796168 33797216 + 33774622 33775670 + 101928440 ABBA01060881;AC113192;AMYH02024574;AW117526;BX111661;HG503672;HG503673;NR_120550;XR_242865;XR_242866;XR_247635;XR_252874;XR_252875;XR_424218;XR_424219;XR_432703 Hs.202343 ncrna ENSG00000254508 HGNC:51147 VALIDATED 1316797 FBXO33 F-box protein 33 This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010] 14 14 14 q21.1 19731269 19768589 - 39865577 39901704 - 39396373 39432500 - 1580863;6480464 12477932;15489334;15520277;16797541;20379614;21139048;21145461 254170 G3V3J7;Q7Z6M2 ABBA01061554;ABBA01061555;ABBA01061556;AI141232;AI989795;AK294140;AL049875;AL157791;AMYH02029058;BC030611;BC042535;BC053537;BC068566;BX248772;CH471078;NG_027725;NM_203301 AAH42535;AAH53537;AAH68566;BAG57466;CAD66579;EAW65803;NP_976046;Q7Z6M2 Hs.146632 1780414;1788790;1797518 AI642135;FBXO33_2098;RH135434 BMND12;Fbx33;c14_5247 F-box only protein 33;OTTHUMP00000178899 APPROVED protein-coding HGNC:19833 16441 609103;612560 REVIEWED 6481059 FBXO36-IT1 FBXO36 intronic transcript 1 (non-protein coding) q36.3 100874344 AC009973;AL705086 Hs.682153 ncrna HGNC:41489 1312922 FBXO24 F-box protein 24 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] 7 7 7 q22 94913753 94928537 + 100183840 100198740 + 100586333 100601117 + 1580863;6480464;8554872 10531035;10531037;11230166;12477932;12690205;12853948;15489334;22939624;9847074 26261 A4D2D3;C9J4S8;C9K0U2;F8WC52;O75426 ABBA01013198;AC069281;AF174604;AK292240;AK301864;AK302252;AK310487;AL136811;AMYH02016384;BC032497;BC051745;BC067293;BU656991;CH236956;CH471091;DC397982;NM_001163499;NM_012172;NM_033506;XM_005250259 AAF04525;AAH67293;AAP21862;AAP21863;BAF84929;BAG63303;BAG63604;CAB66745;EAL23826;EAL23827;EAW76516;EAW76517;EAW76518;NP_001156971;NP_036304;NP_277041;O75426;XP_005250316 Hs.283764 5015961;5037552 D15S1477;D8S2279 DKFZp434I1122;FBX24 F-box only protein 24;F-box protein Fbx24;OTTHUMP00000215770;OTTHUMP00000215772;OTTHUMP00000215773;OTTHUMP00000215774 APPROVED protein-coding ENSG00000106336 HGNC:13595 16438 609097 REVIEWED 1351564 FBXO31 F-box protein 31 This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 16 16 16 q24.2 71659646 71722476 - 87362942 87425708 - 87326987 87392107 - 6480464;8554872;8699517 11076863;11230166;12213200;12477932;15489334;15489336;15520277;16344560;16357137;16381901;19412162;19801982;20664978;21145461;21537837;22472876;22632973;23319600;23469015;24085301;24250222;24623383;24936062 79791 H3BQG7;H3BUC7;Q5XUX0 ABBA01034327;ABBA01034328;AC010531;AF318348;AF428140;AK311122;AL117444;AL576585;AMYH02032614;AY736035;BC002985;BC012748;BE465371;BG718342;BI596608;BI914636;BM151642;BX106211;BX329100;CH471114;DA493744;DB444853;NM_001282683;NM_024735 AAH12748;AAL55855;AAQ04213;AAU50679;CAB55929;EAW95400;EAW95401;EAW95402;EAW95403;EAW95404;NP_001269612;NP_079011;Q5XUX0 Hs.567582;Hs.658034;Hs.733212 1663642;1675225;1778184;2146205;2165691 1802;A001Y26;SHGC-60755;SHGC-60821;SHGC-61138 DKFZp434B027;DKFZp434J1815;FBX14;FBXO14;FLJ22477;Fbx31;MGC15419;MGC9527;MRT45;pp2386 F-box only protein 31;SCF ubiquitin ligase specificity factor;putative breast cancer tumor-suppressor APPROVED protein-coding ENSG00000103264 HGNC:16510 10954 609102;615979 REVIEWED 8553166 FBXO36P1 F-box protein 36 pseudogene 1 17 17 17 q24.2 62662173 62673139 + 66091210 66102153 + 68095069 68106012 + 732538 ABBA01028967;AC145081;AC145343;AMYH02033869;NG_005697 pseudo HGNC:50363 INFERRED 1322937 FBXO39 F-box protein 39 Members of the F-box protein family, such as FBXO39, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 17 17 17 p13.1 6705336 6716755 + 6679523 6700420 + 6776202 6797101 + 737633;1580863;6480464;8554872 12477932 15489334;15520277;21338577 162517 I3L1J5;I3L210;Q8N4B4 ABBA01054838;AC034305;AI125619;AK308712;AK311148;AMYH02032877;BC034782;BM554273;CH471108;DB524242;HC044849;NM_153230;XR_243544 AAH34782;CBH30754;EAW90286;NP_694962;Q8N4B4 Hs.368364 1660238 RH48221 CT144;FLJ18190;FLJ98753;Fbx39;MGC35179 F-box only protein 39;OTTHUMP00000128239 APPROVED protein-coding ENSG00000177294 HGNC:28565 16444 609106 VALIDATED 1320823 FBXO34 F-box protein 34 Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 14 14 14 q22.3 35787506 35869721 + 55738021 55820329 + 55271303 55353611 + 1580863;6480464;8554872 12477932;14702039;15489334;15520277;15761153;16169070;16344560;21963094;22268729;22939624;23000965;8125298 55030 G3V2U9;Q9NWN3 ABBA01018204;ABBA01018205;ABBA01018206;AI911690;AK000732;AK092873;AK092879;AK225367;AL158801;AL834124;AMYH02029234;AMYH02029235;AMYH02029236;BC063526;BC095482;BC109120;BC109121;BF977310;BX248268;CA428544;CH471061;CR457249;DA228125;HI573948;NM_017943;NM_152231;XM_005267791;XM_006720185 AAH95482;AAI09121;AAI09122;BAA91346;CAD62596;CAG33530;CBX47463;EAW80669;EAW80670;EAW80671;NP_060413;NP_689417;Q9NWN3;XP_005267848;XP_006720248 Hs.525348;Hs.654725 1644012;1660329;1797520;1846958;1858151 D14S962;FBXO34_1842;G35815;WI-11779;WI-20861 CGI-301;DKFZp547C162;FLJ20725;Fbx34;MGC126434;MGC126435 F-box only protein 34;OTTHUMP00000244931 APPROVED protein-coding ENSG00000178974 HGNC:20201 16442 609104 VALIDATED 1316490 FBXO21 F-box protein 21 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 12 12 12 q24.22 117211091 117257810 - 117581278 117628305 - 117143780 117190495 - 1580863;6480464 10048485;10531035;11230166;12421765;12477932;14702039;15489334;18187620;18247557;18781797;19322201;20811636;21139048;21145461;21572392;21906983;21987572;22505724;23443559;24250222;24654937 23014 H0YHF6;H0YIE9;O94952;Q4G104;Q8IUQ5 AB020682;ABBA01020025;AC026364;AC026368;AF174601;AK001699;AK074714;AK308141;AK314573;AL136899;AMYH02027310;AMYH02027311;AMYH02027312;BC034045;BC042333;BC091496;BI550121;CH471054;NM_015002;NM_033624 AAF04522;AAH34045;AAH42333;AAH91496;BAA74898;BAG50962;BAG51990;CAB66833;EAW98102;EAW98103;EAW98104;EAW98105;EAW98106;NP_055817;NP_296373;O94952 Hs.740376 1670112;1675023;1680571;1685339;1746745;1795818;2145488;2146182;2176397 D12S2147;FBXO21_1269;G64759;RH15672;RH47471;RH93520;STS-T56610;WI-20357;WI-21497 DKFZp434G058;FBX21;FLJ90233;KIAA0875;MGC26682 F-box only protein 21;OTTHUMP00000241317;OTTHUMP00000241318;OTTHUMP00000241319 APPROVED protein-coding ENSG00000135108 HGNC:13592 09948 609095 REVIEWED 1316856 FBXO4 F-box protein 4 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 5 5 5 p12 41813649 41829966 + 41925352 41941672 + 41925252 41941570 + 1580863;6480464;6907045 10531035;10531037;10828603;12477932;14702039;15302935;15489334;15520277;16275645;16278047;16344560;16581786;17081987;17207965;17353931;18598945;19322201;19343786;19487455;20159592;20181953;21242966;21946088;22013077;22268729;22939624;23319600;24019069;24389012;24704453 26272 B3KNA0;D6RAJ6;D6RAU6;D6REP2;Q9UKT5 ABBA01024237;AC034222;AF129534;AF176703;AK001003;AK024075;AMYH02011221;AMYH02011222;AU143782;BC040011;BC048098;CH471119;CR749719;NM_001297437;NM_012176;NM_033484;XM_005248287;XM_006714470 AAF03703;AAF04468;AAH48098;ADQ32475;BAA91463;BAG51262;CAH18486;EAW56019;EAW56020;NP_001284366;NP_036308;NP_277019;Q9UKT5;XP_005248344;XP_006714533 Hs.165575 1662868;1662870;1663255;1795822;1854964;5015619;5015881;5017814;5021872;5022200;5037552;5109281 A006I14;D11S3114;D1S1425;D8S2279;FBXO4;FBXO4_635;G20839;GDB:335751;L18426;RH46228;SHGC-32040;sY3084 DKFZp547N213;FBX4;FLJ10141 F-box only protein 4;F-box protein Fbx4;OTTHUMP00000120029;OTTHUMP00000120030;OTTHUMP00000221209 APPROVED protein-coding ENSG00000151876 HGNC:13583 09949 609090 REVIEWED 1317314 FBXO36 F-box protein 36 Members of the F-box protein family, such as FBXO36, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 2 2 2 q36.3 224563142 224653752 + 230787023 230877825 + 229922491 230013109 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;15520277;20379614 130888 B8ZZQ1;Q8NEA4 ABBA01050134;ABBA01050135;ABBA01050136;ABBA01050137;AC009973;AK094911;AK123085;AK289655;AK309702;AMYH02005947;AMYH02005948;BC017869;BC022538;BC033935;BF674223;BM997950;CH471063;NM_174899;XM_005246317 AAH22538;AAH33935;AAY14756;BAF82344;BAG53868;EAW70909;EAW70910;EAW70911;EAW70912;NP_777559;Q8NEA4;XP_005246374 Hs.140666 5016596;5037552 D8S2279;GDB:631802 FLJ37592;FLJ41090;Fbx36 F-box only protein 36;OTTHUMP00000164267;OTTHUMP00000204198;OTTHUMP00000204199 APPROVED protein-coding ENSG00000153832 HGNC:27020 16443 609105 VALIDATED 734419 FBXO32 F-box protein 32 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] 8 8 8 q24.13 120703016 120741104 - 124510127 124553493 - 123497887 123541253 - 633893;1580863;6480464;8554872 11679633 11717410;12477932;14702039;16507768;16868939;17207965;17478621;17519359;17609255;17901116;17971512;17977773;17992259;18354498;18599544;18681786;19073596;19117950;19453261;19850579;19859778;20065949;20473970;20706999;20833824;21304964;21546904;21725612;21906983;21964591;22127230;22249105;22311109;22476926;22590725;22815045;23816995;23844868 114907 I6L984;Q0VAQ6;Q498Y9;Q969P5 ABBA01037877;AC090193;AI077844;AJ420108;AK023391;AK056986;AK096904;AK124390;AK125888;AMYH02018706;AY059629;BC022416;BC024030;BC100020;BC120963;BC120964;CH471060;DB503484;EF143260;NM_001242463;NM_058229;NM_148177 AAH24030;AAI00021;AAI20964;AAI20965;AAL16407;ABO37797;ADQ32382;BAB71333;CAD12251;EAW92040;EAW92041;EAW92042;EAW92043;NP_001229392;NP_478136;NP_680482;Q969P5 Hs.403933 1669958;1673959;1687524;1719291;1721441;1735738;1769117;1797108;1847201;1850831;1851392;2131356;2146794;2152412;2217324;5109675 Bda38a02;D8S1342E;D8S1354E;D8S1356E;FBXO32_(5);FBXO32_2733;G59572;RH11911;RH123368;RH12468;RH48400;RH93103;STS-AA027933;STS-H99761;STS-N27429;WI-14871 FLJ32424;Fbx32;MAFbx;MGC33610 F-box only protein 32;OTTHUMP00000228094;OTTHUMP00000228095;atrogin 1;atrogin-1;muscle atrophy F-box protein APPROVED protein-coding ENSG00000156804 HGNC:16731 05966 606604 REVIEWED 1322999 FBXO38 F-box protein 38 This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 5 5 5 q32 143842908 143901761 + 147763498 147822399 + 148383935 148442836 + 6480464;8699517;7240710;8554872 12477932;14702039;14729953;15302935;15489334;15498874;15520277;16344560;19615732;20360068;20549515;21139048;21832049;21890473;21963094;21988832;22699663;22939624;24207122 81545 Q6AZE0;Q6PIJ6 ABBA01026317;AC091948;AC114939;AF177339;AF251055;AK024024;AK308414;AK313558;AL832841;AMYH02012436;BC005849;BC005873;BC015366;BC033454;BC047743;BC050424;BC056147;BC078159;BI459318;CH471062;DA399611;NG_033871;NM_001271723;NM_030793;XM_005268513;XM_006714796;XM_006714797 AAG17983;AAH05849;AAH05873;AAH15366;AAH33454;AAH50424;AAH56147;AAH78159;AAK34945;BAB14783;EAW61805;EAW61806;EAW61807;EAW61808;NP_001258652;NP_110420;Q6PIJ6;XP_005268570;XP_006714859;XP_006714860 Hs.483772 5023404 WI-17124 Fbx38;HMN2D;MOKA;SP329 F-box only protein 38;OTTHUMP00000160381;OTTHUMP00000160382;OTTHUMP00000223924;modulator of KLF7 activity homolog protein-coding ENSG00000145868 HGNC:28844 09775 608533;615575 REVIEWED 1320304 FBXO40 F-box protein 40 Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 3 3 3 q13.33 119721852 119758855 + 121312170 121349139 + 121593323 121630292 + 6480464;8554872 10574462;12477932;15489334;15520277;16344560;17928169;18029348;19734545;21906983;22939624;23223146 51725 Q7Z2T7;Q9UH90 AB033021;ABBA01016480;ABBA01016481;AC063920;AC069239;AF163259;AF204674;AK314400;AMYH02007528;AMYH02007529;BC109275;BC109276;CH471052;DB081227;NM_016298 AAF17085;AAI09276;AAI09277;AAQ13588;BAA86509;BAG37024;EAW79507;EAW79508;NP_057382;Q9UH90 Hs.272564 5015961;5037552 D15S1477;D8S2279 FBX40;KIAA1195;MGC129902;MGC129903 F-box only protein 40;OTTHUMP00000215186;muscle disease-related protein APPROVED protein-coding ENSG00000163833 HGNC:29816 12368 609107 VALIDATED 1349858 FBXO45 F-box protein 45 Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011] 3 3 3 q29 194877764 194897967 + 196295725 196315930 + 196568854 196589059 + 6480464 15520277;16012741;19398581;19581926;19615732;21139048;21906983;22505724;22797925;23438482;24816145;24992930 200933 C9JLC0;P0C2W1 ABBA01033744;AC092933;AK025697;AMYH02008490;AMYH02008491;AMYH02008492;BE047625;BE778263;CA445163;CH471191;DB636510;NM_001105573 AAI72382;EAW53643;EAW53644;NP_001099043;P0C2W1 Hs.169815 1664809;1669466;1671373;1679121;1698444;1772854;1773477;2111874;2116235;2119480;2186281;5014732;5015881;5017266;5022578;5037552 D1S1423;D3S3440;D3S4033;D3S4124;D8S2279;G38229;GDB:335751;L18506;NIB2025;RH102770;RH66305;RH80690;SHGC-77693;SHGC-77694;SHGC-77696;WI-22352 Fbx45 F-box only protein 45;F-box/SPRY domain-containing protein 1;OTTHUMP00000208257;hFbxo45 APPROVED protein-coding ENSG00000174013 HGNC:29148 609112 VALIDATED 1318136 FBXO46 F-box protein 46 Members of the F-box protein family, such as FBXO46, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 19 19 19 q13.3 43020015 43040278 - 46213887 46234151 - 45710629 45730893 - 737633;6480464 12477932 15489334;15520277;17081983;18247557;19159283;21145461;22589738;23319600;23658844;24250222;9585442 23403 K7EKF1;K7ERN4;Q6PJ61 ABBA01040946;ABBA01040947;ABBA01040948;AC007191;AC007774;AMYH02036207;BC008046;BC013570;BC021978;BC046245;NM_001080469;Y10936 AAH21978;CAA71862;NP_001073938;Q6PJ61 Hs.128702 20D7-FC4;FBXO34L;Fbx46 F-box only protein 34-like;F-box only protein 46 APPROVED protein-coding ENSG00000177051 HGNC:25069 609117 PROVISIONAL 1606618 FBXO47 F-box protein 47 17 17 17 q12 33753667 33784641 - 37092685 37123655 - 38936432 38967402 - 12477932;15723337;16344560;23251661 494188 Q5MNV8 ABBA01031891;ABBA01031892;ABBA01031893;AC006441;AMYH02033367;AMYH02033368;AMYH02033369;AY700575;BC140879;BC140880;CH471152;DB340247;NM_001008777 AAI40880;AAI40881;AAV91324;EAW60546;NP_001008777;Q5MNV8 Hs.549536 2149925 G09679 F-box only protein 47 protein-coding ENSG00000204952 HGNC:31969 16886 609498 VALIDATED 1351223 FBXO41 F-box protein 41 This gene encodes a member of the F-box protein family, which is characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one of the four subunits of the SCF ubiquitin protein ligase complex that plays a role in phosphorylation-dependent ubiquitination. F-box proteins are divided into three classes depending on the interaction substrate domain each contains in addition to the F-box motif: FBXW proteins contain WD-40 domains, FBXL proteins contain leucine-rich repeats, and FBXO proteins contain either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the FBXO class. [provided by RefSeq, Feb 2014] 2 2 2 p13.2 73332638 73347586 - 73481810 73496758 - 73254682 73272218 - 1580863;6480464 11853319;12477932;14702039;15070733;15520277;15815621;17043677;23777664 150726 J3KNB0;Q8TF61 AB075820;ABBA01075579;AC010913;AK055121;AK095028;AK127503;AMYH02004072;BC112202;CH471053;CR936834;NG_033973;NM_001080410;R45456;XM_005264158;XM_006711950 AAI12203;BAB85526;BAG54515;EAW99736;NP_001073879;Q8TF61;XP_005264215;XP_006712013 Hs.23158 1663723;1663725;1683958;1722015;1734952;1767847;2125320 A006A27;D2S1707E;G20653;G59894;RH91757;WI-12451;WIAF-2130 FLJ37709;Fbx41 F-box only protein 41;OTTHUMP00000225956 APPROVED protein-coding ENSG00000163013 HGNC:29409 609108 REVIEWED 1312431 FBXO42 F-box protein 42 Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Dec 2010] 1 1 1 p36.23-p36.11 15056452 15158874 - 16573339 16678965 - 16246844 16352453 - 737633;6480464;8554872 12477932 10718198;14702039;15489334;15520277;16710414;18247557;19509332;20972266;21127074;21145461;21572392;21906983;24063688;24250222 54455 Q6P3S6;X6RKU3 AB037753;ABBA01004671;ABBA01004672;ABBA01004673;ABBA01004674;ABBA01004675;ABBA01004676;ABBA01004677;ABBA01004678;AC244454;AK025059;AK055598;AK310671;AL109627;AL358794;AL833207;AL833874;AMYH02000379;AMYH02000380;AMYH02000381;AMYH02000382;AMYH02000383;BC006174;BC032439;BC043410;BC047296;BC063864;CH471167;NM_018994;XM_006710698 AAH06174;AAH32439;AAH43410;AAH63864;BAA92570;BAG51542;CAD38731;EAW51774;EAW51775;NP_061867;Q6P3S6;XP_006710761 Hs.522384 1683928;1693086;1699364;1701118;1707924;1769659;2108091;2118606;2182625 AL010086;AL034273;FBXO42__7652;RH103269;RH104187;RH93194;SHGC-64091;SHGC-74271;SHGC-82214 Fbx42;JFK;KIAA1332 F-box only protein 42;OTTHUMP00000002236;just one F-box and Kelch domain-containing protein APPROVED protein-coding ENSG00000037637 HGNC:29249 609109 PROVISIONAL 1605751 FBXO48 F-box protein 48 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; flutamide (ortholog) 2 2 2 p13.3 68539478 68544370 - 68689498 68694448 - 68462366 68467316 - 6480464;8554872 12477932;22190364;23485738;23898208;24250222 554251 Q5FWF7 ABBA01075486;AC127383;AMYH02004015;BC089423;CH471053;DQ904332;NM_001024680;XM_005264407;XM_005264408 AAH89423;ABI98402;EAW99873;NP_001019851;Q5FWF7;XP_005264464;XP_005264465 Hs.164117 F-box only protein 48;OTTHUMP00000202032 protein-coding HGNC:33857 18694 PROVISIONAL 1321003 FBXO43 F-box protein 43 Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 8 8 8 q22.2 97330985 97343496 - 101145588 101158099 - 100133360 100145871 - 6480464;8554872 12477932;15489334;15520277;15753281;16344560;16407128;16456547;18550795 286151 E5RHI5;Q4G163 ABBA01037563;AC021590;AI198884;AK310518;AMYH02018500;BC028709;BC090892;BG391951;DA996924;DB056068;DB088246;NM_001029860;NR_036491;XM_005250898 AAI56851;NP_001025031;Q4G163;XP_005250955 Hs.339577 5014051;5021872;5022651 D11S2921;D8S2278;sY3084 EMI2;ERP1;Fbx43 F-box only protein 43;OTTHUMP00000227561;early mitotic inhibitor 2;endogenous meiotic inhibitor 2 APPROVED protein-coding ENSG00000156509 HGNC:28521 18777 609110 VALIDATED 1606989 FBXO44 F-box protein 44 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Four alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 10826494 10835441 + 11714432 11723384 + 11654375 11663327 + 6480464 10531035;12383498;12477932;14702039;15489334;15520277;16710414;17207965;17215248;18203720;19159283;19615732;20057081;20682791;21145461;21640084;23086937;23314748 93611 B7Z1P2;Q9H4M3;R4GMZ8;R4GNH4 ABBA01003054;ABBA01003055;AK055344;AK293721;AK294053;AK296025;AK301418;AK316284;AK316347;AL031731;AMYH02000297;AY007380;AY040878;BC007832;BM903606;CH471130;CR749368;NM_001014765;NM_033182;NM_183412;NM_183413;XM_005263535;XM_005263536;XM_005263537;XM_005263538;XM_006711042;XM_006711043;XM_006711044;XM_006711045;XM_006711046;XM_006711047 AAG09623;AAH07832;AAK77940;ADQ32661;BAG51504;BAH11578;BAH11660;BAH12240;BAH13479;BAH14655;BAH14718;CAH18221;EAW71690;EAW71691;EAW71692;EAW71693;EAW71694;EAW71695;NP_001014765;NP_149438;NP_904319;NP_904320;Q9H4M3;XP_005263592;XP_005263593;XP_005263594;XP_005263595;XP_006711105;XP_006711106;XP_006711107;XP_006711108;XP_006711109;XP_006711110 Hs.556006 1701112;1732816;1771319;1777494;2141183;2171891;2218772 A004M25;D1S1264;FBXO44__4769;IB1204;IB3322;RH104184;WI-15845 DKFZp781J0852;FBG3;FBX30;FBX6A;Fbx44;Fbxo6a;MGC14140 F-box gene 3;F-box only protein 44;F-box protein FBX30;F-box/G-domain protein 3;OTTHUMP00000002063;OTTHUMP00000002064;OTTHUMP00000002065;OTTHUMP00000002242;OTTHUMP00000035894;OTTHUMP00000035896 APPROVED protein-coding ENSG00000132879 HGNC:24847 16445 609111 REVIEWED 1319734 FBXO5 F-box protein 5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008] 6 6 6 q25.2 154025328 154038410 - 153291658 153304740 - 152970523 152983605 - 1580863;6480464 10409428;10531035;10531037;10828603;11389834;11751633;11976684;11988738;12477932;12703993;12791267;14574404;14702039;15148369;15469984;15489334;16344560;16439210;16861914;16921029;17190794;17234884;17463251;17485488;17609108;17676996;17719540;18029348;18204430;18247557;18662541;19211842;19475398;19822658;20360068;20641033;20717963;20800603;21139048;21454540;21988832;22017875;22623531;22995332;23000965;23086937;23202783;23535732;23645673;23708001;23708605;24074588;24250222;24277465 26271 Q9UKT4 ABBA01025614;AF129535;AJ420499;AK026197;AK055221;AK314456;AL080276;AMYH02014747;AMYH02014748;AY079515;BC018905;BG944882;BI838832;CH471051;DB122061;NM_001142522;NM_012177 AAF04469;AAH18905;AAL86610;ABM82848;ABM86032;BAG37064;BAG51487;EAW47718;EAW47719;EAW47720;NP_001135994;NP_036309;Q9UKT4 Hs.520506 1721965;2158878;2184154 G59868;RH46915;RH68113 EMI1;FBX5;Fbxo31 F-box only protein 5;F-box protein Fbx5;OTTHUMP00000017453;OTTHUMP00000017454;early mitotic inhibitor 1 APPROVED protein-coding ENSG00000112029 HGNC:13584 09348 606013 REVIEWED 1352122 FBXO6 F-box protein 6 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class, and its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 10836207 10846475 + 11724150 11734411 + 11664093 11674354 + 1580863;6480464;6907045 10531035;10531037;10945468;12383498;12477932;12939278;15489334;15723043;16710414;17207965;17215248;17494702;18203720;19716789;21062743;21640084;21906983;21988832;22190034;22268729;22292078;22939624;23233672;23464991;23956138;24816145 26270 J3KQ72;Q9NRD1 ABBA01003055;ABBA01003056;ABBA01003057;AF129536;AF233223;AK314989;AL031731;AMYH02000297;AMYH02000298;AMYH02000299;BC020880;CH471130;NM_018438;XM_005263448;XM_005263449;XM_005263451;XM_006710571 AAF04470;AAF67153;AAH20880;ADQ32156;BAG37485;EAW71696;NP_060908;Q9NRD1;XP_005263505;XP_005263506;XP_005263508;XP_006710634 Hs.464419 1681610;1734206;1771319;1795824;2141183;2171891;5021872;5022200;5022651;5122249 Bdy91f02;D11S2921;D1S1742E;FBXO6_1418;IB1204;IB3322;L18426;RH80622;WI-15845;sY3084 FBG2;FBS2;FBX6;Fbx6b F-box only protein 6;F-box protein FBG2;F-box protein Fbx6;F-box protein that recognizes sugar chains 2;F-box/G-domain protein 2;OTTHUMP00000002267;OTTHUMP00000002268 APPROVED protein-coding ENSG00000116663 HGNC:13585 07291 605647 REVIEWED 1344741 FBXW10P1 F-box and WD-40 domain protein 10 pseudogene 1 446204 HGNC:17374 1321245 FBXO9 F-box protein 9 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq, Jul 2008] 6 6 6 p12.3-p11.2 54591593 54627465 + 52922586 52965671 + 53057779 53100873 + 1580863;6480464 10508479;10531035;10531037;12477932;14574404;14702039;15489334;15520277;15840729;17463251;20459822;21145461;21890473;22939624;24250222;24816145;8889549 26268 C9IY65;C9J4V1;C9JDZ9;H7C4H6;Q9UK97;V9GZ74 AA132361;AA890006;AB209833;ABBA01050544;ABBA01050545;AF174597;AF176704;AK021559;AK095307;AK095315;AL031178;AL137520;AMYH02013740;AMYH02013741;AMYH02013742;AY858798;BC000650;BC024973;BX641082;CH471081;NM_012347;NM_033480;NM_033481;XM_005248995;XM_005248996;XM_006715050;XM_006715051 AAF03704;AAF04518;AAH00650;AAW51115;BAD93070;BAG51038;CAB70786;EAX04405;EAX04406;EAX04407;EAX04408;EAX04409;EAX04410;NP_036479;NP_258441;NP_258442;Q9UK97;XP_005249052;XP_005249053;XP_006715113;XP_006715114 Hs.216653 1679119;1688241;1722369;1735608;1767445;1797524;1855578;2143365;2164009;2164011;2166531;5016478;5023254;5037552 A005M20;D6S1177E;D6S1198E;D6S1204E;D8S2279;FBXO9_1888;G20333;G60256;GDB:434012;RH12607;RH25222;RH75014;STS-R73399;WI-14284 DKFZp434C0118;FBX9;KIAA0936;NY-REN-57;VCIA1;dJ341E18.2 F-box only protein 9;F-box protein Fbx9;OTTHUMP00000016628;OTTHUMP00000016629;OTTHUMP00000214588;cross-immune reaction antigen 1;renal carcinoma antigen NY-REN-57 APPROVED protein-coding ENSG00000112146 HGNC:13588 16434 609091 REVIEWED 1316882 FBXO8 F-box protein 8 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008] 4 4 4 q34.1 172483541 172531150 - 175157809 175205415 - 174236658 174284251 - 1580863;6480464 10531035;10531037;10945468;12477932;12975309;14702039;15489334;17207965;18029348;18094045;18987618;19322201;20848231;23400010 26269 D6RIC0;D6RJ92;Q8IXA8;Q9NRD0 ABBA01070386;ABBA01070387;AC097653;AF115514;AF174596;AF201932;AF233224;AK026319;AK123740;AK314483;AL602916;AMYH02010527;AY358721;BC014679;BC014903;BC040456;CH471056;NM_012180 AAF04517;AAF67154;AAF86868;AAH14679;AAH40456;AAO06951;AAQ89083;ADQ32317;BAG37087;BAG53949;EAX04741;EAX04742;EAX04743;EAX04744;EAX04745;NP_036312;Q9NRD0 Hs.76917 1645606;1653623;1655761;1795828;5092812 A006G26;D4S2676;FBXO8_637;G32346;SHGC-67414 DC10;FBS;FBX8 F-box only protein 8;F-box protein Fbx8;F-box/SEC7 protein FBS;OTTHUMP00000218882;OTTHUMP00000218883 APPROVED protein-coding ENSG00000164117 HGNC:13587 07293 605649 REVIEWED 1349057 FBXW11P1 F-box and WD repeat domain containing 11 pseudogene 1 21 21 21 q22.11 18182702 18184305 - 32999370 33000973 - 31627057 31628660 - 10830953 54099 ABBA01057291;AMYH02037715;AP000252;NG_000930 BTRC2P;FBXW1BP;FBXW1BP1 f-box and wd-40 domain protein 11 pseudogene 1 pseudo HGNC:1145 INFERRED 1321373 FBXW2 F-box and WD repeat domain containing 2 F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008] 9 9 9 q34 94167532 94204019 - 123519254 123555740 - 120756976 120793462 - 1580863;6480464 10531035;10531037;10828603;11238952;12477932;14603323;14702039;15070733;15640526;16344560;18354482;18703417;19297328;19398581;21145461;21946088;22268729;22388891;22939624;22975506;23651062;7670494;9635407 26190 B4DT60;Q4VXH1;Q9UKT8 ABBA01016244;AF129531;AF145024;AF176698;AF193594;AK022484;AK025767;AK054580;AK095377;AK300066;AK314385;AL138836;AL161911;AMYH02021571;BC000239;BC018738;BC024204;BC110334;BX537625;CH471090;DA703966;NM_012164;U29107;XM_005251908;XM_005251910;XM_005251912;XM_005251913;XM_006717049;XM_006717050;XM_006717051 AAF04465;AAF13226;AAH18738;AAI10335;AAP97276;AAP97280;ABM83271;ABM86476;BAB14051;BAG37010;BAG61872;EAW87470;NP_036296;Q9UKT8;XP_005251965;XP_005251967;XP_005251969;XP_005251970;XP_006717112;XP_006717113;XP_006717114 Hs.494985 1654809;1663995;1670151;1677710;1706196;1707458;1720055;2115835;2149990;5016478;5020948;5022200;5022651;5024761;5037552 D11S2921;D8S2279;D9S2079;G35510;GDB:434012;L18426;RH123824;RH36905;RH80045;SHGC-80626;SHGC-84523;STS-N33525;STS-W02136;STS-Z41147;WI-20950 FBW2;Fwd2;MGC117371;Md6 F-box and WD-40 domain protein 2;F-box and WD-40 domain-containing protein 2;F-box/WD repeat-containing protein 2;OTTHUMP00000021994;OTTHUMP00000021995 APPROVED protein-coding ENSG00000119402 HGNC:13608 09950 609071 REVIEWED 1345122 FBXW4P1 F-box and WD repeat domain containing 4 pseudogene 1 INTERACTS WITH imatinib 22 22 22 q11 7419472 7421710 + 23604954 23607192 + 23262767 23265005 + 6480464 10405324;10531035;10531037;14702039;15070733;6319012;7665185;9635407 26226 Q9H7J7 ABBA01055106;AF174606;AI432341;AK024483;AK314175;AMYH02038123;AP000343;BP385887;BX091573;NG_009244;NR_033408;U07000 AAB60391;AAF04527;BAB15773 Hs.729589 1676049;2121612;5492633 RH11197;RH70541;UniSTS:481860 FBW3;FBXW3;FLJ94893;SHFM3P1 pseudo HGNC:13609 VALIDATED 1319284 FBXW11 F-box and WD repeat domain containing 11 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 167321013 167466463 - 171288553 171433877 - 171861549 172006873 - 6480464;6484113;6907045 10066435;10230406;10321728;10531035;10644755;10694485;11896578;12165731;12477932;12481031;12482991;14532120;14603323;14681206;14707120;14743216;15070733;15082796;15337770;15485837;15489334;15798217;15917222;16085715;16338364;16651270;16865294;16880511;16885022;16934469;17121803;17217622;17353931;17510365;17643375;18056411;18187620;18354482;18575781;18662541;18775313;19150432;19159283;19615732;19966869;20347421;20708156;20724472;20881960;21138764;21145461;21807946;21890473;21900206;21987572;22017875;22017877;22045853;22190034;22215675;22479182;22669845;22711876;22730322;22851693;22939624;22975506;23000965;23455922;23563607;23611780;23640883;23737552;24248593;24280222;24500709;24785407;24912152;9734811 23291 B4DH70;E5RG78;E5RGC1;E5RH92;Q9UKB1 AB014596;AB033279;AB033280;AB033281;ABBA01044063;ABBA01044064;ABBA01044065;ABBA01044066;ABBA01044067;ABBA01044068;ABBA01044069;ABBA01044070;AC011387;AC011410;AC113342;AF176022;AK294956;AK314999;AMYH02012737;AMYH02012738;AMYH02012739;AMYH02012740;BC026213;CH471062;KF458061;NG_009275;NM_012300;NM_033644;NM_033645;XM_005265855;XM_005265856;XM_005265857;XM_005265858;XM_005265859 AAF04528;AAH26213;ABM82051;ABM85230;BAA31671;BAA92329;BAA92330;BAA92331;BAG37495;BAG58031;EAW61440;NP_036432;NP_387448;NP_387449;Q9UKB1;XP_005265912;XP_005265913;XP_005265914;XP_005265915;XP_005265916 Hs.484138 1299907;1677844;1693938;1710006;1723841;1780536;1787878;2107091;2141624;2172596;2173371;7185154 D5S429;FBXW11__6861;G16891;G42662;RH10985;RH118656;RH80538;SHGC-173547;SHGC-82273;WI-14938;bac51052T BTRC2;BTRCP2;FBW1B;FBXW1B;Fbw11;Hos;KIAA0696 F-box and WD repeats protein beta-TrCP2;F-box and WD-40 domain protein 11;F-box and WD-40 domain protein 1B;F-box protein Fbw1b;F-box/WD repeat-containing protein 11;F-box/WD repeat-containing protein 1B;OTTHUMP00000223451;OTTHUMP00000223452;OTTHUMP00000223453;beta-transducin repeat-containing protein 2;homologous to Slimb protein APPROVED protein-coding ENSG00000072803 HGNC:13607 07294 605651 REVIEWED 1352427 FBXW12 F-box and WD repeat domain containing 12 Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 3 3 3 p21.31 48364476 48386962 + 48413709 48436190 + 48372219 48394725 + 6480464;8554872 12477932;14702039;15040455;15520277 285231 C9JK86;Q6X9E4 ABBA01024651;AC104448;AC134772;AK097594;AMYH02006717;AY247969;BC101303;BC101304;BC101305;BC101306;CH471055;NM_001159927;NM_001159929;NM_207102;XR_245120 AAI01304;AAI01305;AAI01306;AAI01307;AAP75562;EAW64863;NP_001153399;NP_001153401;NP_996985;Q6X9E4 Hs.288793 FBW12;FBXO12;FBXO35;MGC120385;MGC120386;MGC120387 F-box and WD-40 domain protein 12;F-box and WD-40 domain-containing protein 12;F-box only protein 35;F-box- and WD40-repeat-containing protein;F-box/WD repeat-containing protein 12;OTTHUMP00000164809;OTTHUMP00000210035;OTTHUMP00000210036 APPROVED protein-coding ENSG00000164049 HGNC:20729 16428 609075 VALIDATED 1313800 FBXO7 F-box protein 7 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008] 22 22 22 q12.3 16672879 16696990 + 32870707 32894818 + 32474720 32498831 + 1580863;6480464;7240710;8554872;8699517 10531035;10531037;10591208;10737800;10945468;11076863;11256614;12477932;12527899;12529303;14702039;15145941;15461802;15489334;15489336;16196087;16278047;16381901;16510124;16581786;18247557;18495667;18624398;19038853;19615732;19820697;20301402;20603184;20669327;21139048;21145461;21347293;21378169;21695055;21890473;21906983;21963094;21988832;22212761;22490479;22505724;23133663;23196729;23222517;23318512;23352116;23656991;23933751;24112787;24250222;24419388;24811749;24947323;25029497 25793 A2A281;A2A282;F8WBR0;F8WDR9;Q9Y3I1 ABBA01055378;ABBA01055379;AF129537;AF233225;AK054739;AK226087;AK291972;AK297841;AK301716;AL021937;AL035068;AL050254;AMYH02038267;BC008361;BC041004;BI821903;BQ326686;BU584368;BX362053;BX409547;BX648151;BX648220;BX648644;CH471095;CR456491;KF457410;NG_016001;NM_001033024;NM_001257990;NM_012179;Z71183 AAF04471;AAF67155;AAH08361;ABW03590;ABW03591;BAF84661;BAG60175;BAG63187;CAB43356;CAG30377;CAI46263;CAK54519;CAK54818;CAL37618;EAW60023;EAW60024;EAW60025;EAW60026;NP_001028196;NP_001244919;NP_036311;Q9Y3I1 Hs.5912 1795826;1799854;1799910;1800148;1801240;1805234;1807146;1812728;1813870;1816532;1818790;1819238;1819836;1820768;1822444;1823504;1823928;1827574;1829122;1830280;1831080;1831374;1832390;1834300;1834972;1840516;1844140;2014230;2014232;2014234;2014236;2014238;2014240;2014242;2014244;2014246;2014248;2014250;2014252;2014254;2014256;2014258;2014260;2014262;2014264;2014266;2014268;2014270;2014272;2014274;2014276;2014278;2014280;2014282;2014284;2014286;2014288;2014290;2014292;2014294;2014296;2014298;2014300;2014302;2014304;2014306;2014308;2014310;2014312;2014314;2014316;2014318;2014320;2014322;2014324;2014326;2014328;2014330;2014332;2014334;2014336;2014338;2014340;2014342;2014344;2014346;2014348;2014350;2014352;2014354;2014356;2014358;2014360;2014362;2014364;2014366;2014368;2014370;2014372;2014374;2014376;2014378;2014380;2014382;2014384;2014386;2014388;2014390;2014392;2014394;2014396;2014398;2014400;2014402;2014404;2014406;2014408;2014410;2014412;2014414;2014416;2014418;2014420;2014422;2014424;2014426;2014428;2014430;2014432;2014434;2014436;2014438;2014440;2014442;2014444;2014446;2014448;2014450;2014452;2014454;2014456;2014458;2014460;2098814;2098816;2098818;2098820;2098822;2098824;2098826;2098828;2098830;2098832;2098834;2098836;2098838;2098840;2098842;2098844;2098846;2098848;2098850;2167690;2171147;2171347;5022588;5037552 A002E09;D22S1127;D5S1597E;D8S2279;ECD00781;ECD00809;ECD00930;ECD01492;ECD03561;ECD04539;ECD07375;ECD07961;ECD09308;ECD10459;ECD10686;ECD10988;ECD11459;ECD12310;ECD12843;ECD13058;ECD14904;ECD15688;ECD16274;ECD16676;ECD16823;ECD17334;ECD18298;ECD18637;ECD21445;ECD23283;FBXO7_1644;REN78054;REN78055;REN78056;REN78057;REN78058;REN78059;REN78060;REN78061;REN78062;REN78063;REN78064;REN78065;REN78066;REN78067;REN78068;REN78069;REN78070;REN78071;REN78072;REN78073;REN78074;REN78075;REN78076;REN78077;REN78078;REN78079;REN78080;REN78081;REN78082;REN78083;REN78084;REN78085;REN78086;REN78087;REN78088;REN78089;REN78090;REN78091;REN78092;REN78093;REN78094;REN78095;REN78096;REN78097;REN78098;REN78099;REN78100;REN78101;REN78102;REN78103;REN78104;REN78105;REN78106;REN78107;REN78108;REN78109;REN78110;REN78111;REN78112;REN78113;REN78114;REN78115;REN78116;REN78117;REN78118;REN78119;REN78120;REN78121;REN78122;REN78123;REN78124;REN78125;REN78126;REN78127;REN78128;REN78129;REN78130;REN78131;REN78132;REN78133;REN78134;REN78135;REN78136;REN78137;REN78138;REN78139;REN78140;REN78141;REN78142;REN78143;REN78144;REN78145;REN78146;REN78147;REN78148;REN78149;REN78150;REN78151;REN78152;REN78153;REN78154;REN78155;REN78156;REN78157;REN78158;REN78159;REN78160;REN78161;REN78162;REN78163;REN78164;REN78165;REN78166;REN78167;REN78168;REN78169;SHGC-53239;stSG602804;stSG602805;stSG602806;stSG602807;stSG602808;stSG602809;stSG602810;stSG602811;stSG602812;stSG602813;stSG602814;stSG602815;stSG602816;stSG602817;stSG602818;stSG602819;stSG602821;stSG602822;stSG602823 DKFZp686B08113;FBX;FBX07;FBX7;PARK15;PKPS F-box only protein 7;OTTHUMP00000028823;OTTHUMP00000064010 APPROVED protein-coding ENSG00000100225 HGNC:13586 07292 260300;605648 REVIEWED 1315938 FBXW9 F-box and WD repeat domain containing 9 Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 19 19 19 p13.2 12689444 12697169 - 12799730 12807649 - 12688916 12696775 - 737633;6480464 12477932 15489334;15520277;16344560;19159283;19615732;21145461;21832049;21890473;21906983;21963094 84261 B4DZ46;K7EL01;Q5XUX1 ABBA01029780;AC018761;AK123037;AK302744;AMYH02035552;AMYH02035553;AW083348;AY736034;BC004290;CH471106;DA079240;NM_032301;XM_005260096 AAI60094;AAU50678;BAG53859;BAG63958;EAW84295;EAW84296;EAW84297;NP_115677;Q5XUX1;XP_005260153 Hs.515154 1728739;2122076 G54157;WI-14066 Fbw9;MGC10870 F-box and WD-40 domain protein 9;F-box and WD-40 domain-containing protein 9;F-box and WD-40 repeat containing protein 9;F-box/WD repeat-containing protein 9;OTTHUMP00000196470;specificity factor for SCF ubiquitin ligase APPROVED protein-coding ENSG00000132004 HGNC:28136 12361 609074 VALIDATED 1605024 FCAMR Fc receptor, IgA, IgM, high affinity INVOLVED IN immune system process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH cadmium atom; ethyl methanesulfonate; methyl methanesulfonate 1 1 1 q32.1 180382816 180395474 - 207131312 207143970 - 206957967 206970625 - 6480464;8554872 11062505;11779189;12477932;15203218;18379868;19338768;19393604;19682689;19945166;20059578;20379614;21988832;8145026 83953 F8W7R9;Q8WWV6 ABBA01048247;AC098935;AF354295;AI269147;AI478563;AK298394;AMYH02002558;AY063125;AY063126;BC109263;BC109264;BX090153;CD633520;CH471100;DC361666;E15470;NM_001122979;NM_001170631;NM_032029;XM_005273286 AAI09264;AAI09265;AAK39522;AAL51154;AAL51155;BAG60629;EAW93513;EAW93514;NP_001116451;NP_001164102;NP_114418;Q8WWV6;XP_005273343 Hs.145519 CD351;FCA/MR;FKSG87 Fc alpha/mu receptor;OTTHUMP00000034745;OTTHUMP00000034746;high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor;immunity related factor;receptor for Fc fragment of IgA and IgM protein-coding ENSG00000162897 HGNC:24692 12020 605484 VALIDATED 1344251 FCAR Fc fragment of IgA, receptor for This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic responses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 52426154 52442442 + 55385549 55401839 + 54874093 54890473 + 1580863;6480464;6907045;7242172;7242063;7242064;7242167;8554872 18250479;21985370;22147912;22451718 10359575;10380711;10438530;10835685;11281451;11478396;11801662;11929131;12477932;12524384;12560105;12594283;12634059;12768205;12783876;12791088;14759258;15085135;15371488;15489334;15489335;15555551;15564774;1577457;16293625;16517729;16627486;16876821;16990604;17008591;17033823;17339498;17393381;17548632;17975119;18029348;18700185;18768864;19023099;19497711;19555692;19859085;19892918;20237496;20811333;21037509;21159834;21273231;21383176;21653835;21750160;21784854;21866091;2258698;24732061;7522255;7636188;8145026;8408621;8530370;8575829;8666819;8666916;8836118;8917112;8943858;8954257;9367406;9427690 2204 P24071 AB071193;ABBA01068149;AC011501;AC245128;AF091543;AF091544;AK290922;BC027953;CH471135;CU151839;CU459006;CV029531;D87853;D87854;D87855;D87856;D87857;D87858;D87859;D87860;D87861;D87862;DQ075334;DQ075335;DQ075336;DQ075337;DQ075338;DQ075339;EF064738;GU182341;GU182347;GU182352;NM_002000;NM_133269;NM_133271;NM_133272;NM_133273;NM_133274;NM_133277;NM_133278;NM_133279;S82919;U43677;U43774;U56236;U56237;X87765;X87766;X87767;X87769;X90753;X92558;X92559;X92560;X92561;X92562 AAB00566;AAB00567;AAC50595;AAC50639;AAD14421;AAH27953;AAZ76577;AAZ76578;AAZ76579;AAZ76580;AAZ76581;AAZ76582;ABK41921;ABM81861;ABM85024;BAA13471;BAA13472;BAA13473;BAA13474;BAA13475;BAA13476;BAA13477;BAA13478;BAA13479;BAA13480;BAB64914;BAF83611;CAA61039;CAA62276;EAW72291;EAW72292;EAW72293;EAW72294;EAW72295;EAW72296;EAW72297;EAW72298;EAW72299;EAW72300;EAW72301;EAW72302;EAW72303;EAW72304;EAW72305;EAW72306;EAW72307;NP_001991;NP_579803;NP_579805;NP_579806;NP_579807;NP_579808;NP_579811;NP_579812;NP_579813;P24071 Hs.659872 1647780;1649305;5015861;5022651;7185938 D10S16;D11S2921;SHGC-35428;STS-X54150 CD89 Fc alpha receptor;IgA Fc receptor;OTTHUMP00000068691;OTTHUMP00000068692;OTTHUMP00000068693;OTTHUMP00000068694;OTTHUMP00000068695;OTTHUMP00000068696;OTTHUMP00000068697;OTTHUMP00000068698;immunoglobulin alpha Fc receptor APPROVED protein-coding ENSG00000186431 HGNC:3608 00914 147045 REVIEWED 1603710 FBXW4 F-box and WD repeat domain containing 4 This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008] 10 10 10 q24 97109207 97193536 - 103370421 103455345 - 101610664 101695588 - 6480464;8554872 10405324;10945468;12477932;12913067;12974740;14603323;14699611;14702039;15164054;15232212;15489334;16235095;16761290;18354482;18575781;18765672;19596235;21070969;21163940;22388891;23658844;7912888;8723077 6468 P57775;Q5SVS2;Q5SVS3 ABBA01063190;ABBA01063191;ABBA01063192;AC010789;AF281859;AK056917;AK123173;AK314735;AL627144;AL627424;AMYH02023678;AMYH02023679;BC007380;BC063415;CH471066;NG_008091;NM_022039;XM_005270053;XR_246102 AAG22739;AAH07380;AAH63415;BAG37276;EAW49751;EAW49752;EAW49753;NP_071322;P57775;XP_005270110 Hs.500822 1676049;1725227;1788980;2143714 G65567;RH11197;RH118906;SHGC-32623 DAC;FBW4;FBWD4;SHFM3;SHSF3 F-box and WD-40 domain protein 4;F-box and WD-40 domain-containing protein 4;F-box/WD repeat protein 4;F-box/WD repeat-containing protein 4;OTTHUMP00000020341;dactylin APPROVED protein-coding ENSG00000107829 HGNC:10847 06994 608071 REVIEWED 736318 FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011] 1 1 1 q23 132329745 132348256 + 159253678 159278014 + 159283888 159308224 + 704404;1580863;5128714;5128717;5128711;6480464;6907045;8554872 20650300;20937062;21388666 10917520;11409901;11531339;11776381;12070183;12200378;12217383;12270716;12477932;12646639;12671054;12855579;12897750;12902495;13129935;14655898;1472946;14746805;15140034;15217825;1533243;1535625;15373772;15489334;15562891;15696081;15743766;16081836;16237063;16339523;16459334;16563391;16581830;16709862;17125826;17165285;17192395;17267694;17430357;17521040;17541278;17686114;17703412;17883736;17903293;17965580;17993265;18036650;18179824;18187193;18321309;18356810;18382690;18394141;18523286;18595682;18680511;18726713;18846228;19082920;19141351;19150851;19164348;19245427;19258923;19359220;19372141;19385959;19423540;19494509;19514647;19555572;19685047;19697153;19748979;20028371;20117843;20126404;20141544;20163202;20237496;20406964;20410486;20438785;20503287;20523060;20603037;20664273;20691829;21209833;21216468;2146219;21516097;21622859;21725845;21738338;21903095;21958156;21988832;22075330;22173243;22222815;22384272;22800345;22939635;23251661;23621092;23725541;23980848;24354852;24361879;24569373;24610015;2964640;2967464;8125119;8245459;8613143;8752908;8900182;9103201 2205 E9PRN1;P12319 A21606;AB059236;ABBA01016619;ABBA01016620;AL513323;AMYH02002009;BC005912;BC015185;BC015195;CH471121;CS544001;J03605;L14075;NM_002001;X06948 AAA16115;AAA36204;AAH05912;AAH15195;ABM84057;ABM87410;ABM87466;BAB84120;CAA01564;CAA30025;CAN36268;EAW52789;NP_001992;P12319 Hs.897 1754063;1850352;2217326 D1S2397;FCER1A_3020;SHGC-132100 FCE1A Fc IgE receptor, alpha polypeptide;Fc epsilon RI alpha-chain;Fc-epsilon RI-alpha;FcERI;OTTHUMP00000035287;OTTHUMP00000035288;fc receptor, ige, high affinity i, alpha polypeptide;high affinity immunoglobulin epsilon receptor alpha-subunit;high affinity immunoglobulin epsilon receptor subunit alpha;igE Fc receptor subunit alpha;immunoglobulin E receptor, high-affinity, of mast cells, alpha polypeptide APPROVED protein-coding ENSG00000179639 HGNC:3609 00917 147140 REVIEWED 1344414 FBXW10 F-box and WD repeat domain containing 10 Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 17 17 17 p12 287 1621 + 18647326 18682662 + 18744013 18779349 + 6480464 11230166;12477932;15520277;16344560;20498703;21145461;23899520 10517 J3QLH9;Q5XX13 ABBA01017969;ABBA01017970;ABBA01017971;AC107982;AK310383;AL136822;AMYH02033119;AY729024;BC028364;BI828401;DB055860;HC006954;NM_001267585;NM_001267586;NR_051988;XM_006721420;XM_006721421;XM_006721422;XR_429806 AAH28364;AAU43731;CAB66756;CBH19282;NP_001254514;NP_001254515;Q5XX13;XP_006721483;XP_006721484;XP_006721485 Hs.592128 1720127;1848274;2108767;2115892 D17S1686;D17S725;FBXW10_9126;RH123806 Fbw10;HREP;SM25H2;SM2SH2 F-box and WD-40 domain protein 10;F-box and WD-40 domain-containing protein 10;F-box protein;F-box/WD repeat-containing protein 10;OTTHUMP00000065073;OTTHUMP00000065074;OTTHUMP00000194779;ubiquitin ligase specificity factor;ubiquitin ligase-specificity factor APPROVED protein-coding ENSG00000171931 HGNC:1211 06851 611679 VALIDATED 1314415 FBXW8 F-box and WD repeat domain containing 8 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.22 116978296 117098473 + 117348756 117468953 + 116910951 117031148 + 6480464;6907045 10531035;10531037;12477932;12481031;14702039;15070733;15489334;16142236;17079684;17205132;17314511;17332328;17998335;18354482;18498745;18650423;19297328;20558726;20878477;21070969;21145461;21572988;21890473;21946088;22268729;22388891;22504417;22524683;23029530;23045529;24362026 26259 Q8N3Y1 ABBA01020023;ABBA01020024;AC026368;AC083806;AC127164;AF176707;AK055849;AK289621;AMYH02027305;AMYH02027306;BC037296;BC045190;CH471054;NM_012174;NM_153348;XM_005253866;XM_005253867;XM_005253868 AAF03129;AAH37296;BAF82310;EAW98094;EAW98095;EAW98096;EAW98097;NP_036306;NP_699179;Q8N3Y1;XP_005253923;XP_005253924;XP_005253925 Hs.624537;Hs.696428 1686853;1694950;1698400;1699494;1713921;1723423;1737033;1746743;1765493;1778842;2115262;2124885 D11S2783;G44375;G64760;RH102742;RH103340;RH118527;RH119390;RH69770;RH98353;SHGC-148976;SHGC-58215;WI-17693 FBW6;FBW8;FBX29;FBXO29;FBXW6;MGC33534 F-box and WD-40 domain protein 8;F-box and WD-40 domain-containing protein 8;F-box only protein 29;F-box/WD repeat-containing protein 8;OTTHUMP00000240832;OTTHUMP00000240833 APPROVED protein-coding ENSG00000174989 HGNC:13597 16427 609073 REVIEWED 7175948 FCF1P11 FCF1 pseudogene 11 7 7 7 q34 133621461 133622047 - 138883302 138883888 - 139198556 139199142 - 100132310 ABBA01001185;AC009220;AMYH02016884;CH236950;NG_022549 APPROVED pseudo HGNC:44623 INFERRED 7175972 FCF1P1 FCF1 pseudogene 1 7 7 7 23647714 23651204 + 23658952 23662442 + 23619333 23622823 + 100422533 ABBA01056713;AC006026;AMYH02015369;CH236948;NG_026543 APPROVED pseudo HGNC:44613 INFERRED 1354370 FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] 19 19 19 p13.3 7624825 7638156 - 7753643 7767036 - 7688757 7702146 - 1580863;6480464;6484113;8554872 10037797;11500085;11920534;12002758;12022472;12070780;12127553;12127555;12149502;12379312;12456589;12477932;12576441;12731041;12777399;12853962;1387715;1417742;1446976;15272865;15469741;15489334;15565166;15569053;15621797;15795251;15843555;15883744;16009564;16083870;16143132;16172256;16344560;16765898;16831589;16896156;16899715;1717997;17301828;17493235;17540777;17570115;17576766;17635803;17703412;17980418;18032710;18183502;18568448;18616759;18636124;18657051;18697825;19170196;19223373;19258923;19290077;19423540;19449444;19635918;19663668;19805542;19845913;20237496;20359104;20406964;20438785;20503287;20805040;20831712;21081493;21160045;21241315;21307287;21328056;21526166;21686206;21724429;21860351;21889131;21958076;22059556;22304573;22348662;22393152;22560905;22767513;22802656;22815482;23229638;23583387;23689700;23697368;23775083;23933509;24010859;24102092;24354852;24639354;2529542;2877743;2949326;2972386;3034567;7515913;7544003;7621072;8125298;8142907;8432525;8450224;8552454;8745401;8766552;9680363 2208 K3W4U1;M0R1R5;P06734 ABBA01010889;ABBA01010890;ABBA01010891;AC008763;AK223207;AK310071;AK310707;AMYH02035405;BC014108;BC062591;BC064417;CH471139;DA957269;DB333832;FN597088;FN597089;FN597090;FN597091;FN597092;FN597093;FN597094;FN597095;FN597096;FN597097;FN597098;FN597099;FN597100;FN597101;FN597102;FN597103;FN597104;FN597105;FN597106;FN597107;FN597108;FN597109;FN597110;M14766;M15059;M23562;NG_029554;NM_001207019;NM_001220500;NM_002002;S81114;S81115;X04772;XM_005272462;XM_006722687 AAA52433;AAA52434;AAA52435;AAB35925;AAB35926;AAH14108;AAH62591;ABM83161;ABW03476;BAD96927;CAA28465;EAW69004;EAW69005;EAW69006;EAW69007;EAW69008;EAW69009;EAW69010;EAW69011;NP_001193948;NP_001207429;NP_001993;P06734;XP_005272519;XP_006722750 Hs.465778 1791310;1791312;5127700 PMC102084P2;PMC102084P3;STS-M14766 BLAST-2;CD23;CD23A;CLEC4J;FCE2 C-type lectin domain family 4 member J;C-type lectin domain family 4, member J;CD23 antigen;IGEBF;fc fragment of ige, low affinity ii, receptor for (cd23a);fc-epsilon-RII;immunoglobulin E-binding factor;low affinity immunoglobulin epsilon Fc receptor;lymphocyte IgE receptor APPROVED protein-coding ENSG00000104921 HGNC:3612 01049 151445 REVIEWED 7175227 FCF1P3 FCF1 pseudogene 3 3 3 3 q13.12 104965935 104966524 + 106567518 106568107 + 106848671 106849260 + 100128733 ABBA01061716;AC068776;AMYH02007377;NG_022263 APPROVED pseudo HGNC:44615 INFERRED 7175975 FCF1P7 FCF1 pseudogene 7 1 1 1 216717718 216718219 - 243430920 243431421 - 243267618 243268119 - 100422536 ABBA01047217;AC092806;AMYH02003063;NG_027055 APPROVED pseudo HGNC:44619 INFERRED 7175974 FCF1P8 FCF1 pseudogene 8 4 4 4 53719813 53720406 - 56217982 56218575 - 55351815 55352408 - 100422531 ABBA01003411;AC064824;AMYH02009240;NG_025107;NG_028230 APPROVED pseudo HGNC:44620 INFERRED 736226 FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. [provided by RefSeq, Jul 2008] 1 1 1 q23 134252239 134256190 + 161185087 161189038 + 161215297 161219248 + 704404;1580863;6480464;6907045;8554872 10049942;10194433;10469124;10825177;10942756;11388899;11788586;11898918;11943772;11980568;12366784;12477932;12594225;12626537;12836193;1535625;15778339;16710414;17192395;17430357;17850179;18292514;18378679;18534082;19362683;19423540;19913121;20028371;20126404;20237496;20406964;20438785;20628086;2138619;2146219;21890473;22150093;22401598;22664044;22706086;23228155;23874603;24023253;8071371;8752908;8810294;9028946;9280292;9295288 2207 A6NCQ8;P30273 ABBA01016596;AC243898;AK307102;AL590714;BC033872;CH471121;HC460416;JA738649;M33195;M33196;NG_029043;NM_004106 AAA35828;AAH33872;ABM81708;ABW03303;CBK51078;CCF76977;EAW52623;EAW52624;NP_004097;P30273 Hs.433300 1742445;1847402;2161288;2173294 D1S2585;D1S3434;GDB:197000;RH70304 FCRG Fc receptor gamma-chain;OTTHUMP00000032239;OTTHUMP00000032240;fc receptor, ige, high affinity i, gamma polypeptide;fc-epsilon RI-gamma;fcRgamma;fceRI gamma;high affinity immunoglobulin epsilon receptor subunit gamma;igE Fc receptor subunit gamma;immunoglobulin E receptor, high affinity, gamma chain APPROVED protein-coding ENSG00000158869 HGNC:3611 00916 147139 REVIEWED 7175973 FCF1P6 FCF1 pseudogene 6 1 1 1 49156999 49157591 - 50871104 50871696 - 50405432 50406024 - 100422535 ABBA01074829;AL596275;AMYH02000989;NG_026937 APPROVED pseudo HGNC:44618 INFERRED 1313822 FBXW5 F-box and WD repeat domain containing 5 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 110349118 110353404 - 139834885 139839298 - 136940433 136944846 - 6480464 10531035;10531037;12477932;14603323;14702039;15070733;15164053;15489334;15498874;16189514;17079684;18247557;18354482;18381890;18765672;19159283;19232515;19615732;20237496;21139048;21145461;21725316;21890473;21900206;21906983;21963094;21987572;22053931;22388891;22910413;22939624;23000965;23314863;23319600;24082123;24250222;24372178;24444419;25011449;8889548 54461 Q969U6 AB209726;ABBA01022732;AF217998;AF258569;AK026081;AK315738;AL137631;AL807752;AMYH02021914;BC000850;BC004541;BC009429;BC014130;BC014297;BC031100;BC035355;BI829307;CF132404;CH471090;DB460097;EC577580;NG_029580;NM_018998;XM_005266089;XM_005266090;XR_245333 AAG17240;AAG23772;AAH00850;AAH04541;AAH09429;AAH14130;AAH14297;ADZ15466;BAB15354;BAD92963;BAG38093;CAB70851;EAW88307;EAW88308;EAW88309;EAW88310;EAW88311;EAW88312;EAW88313;EAW88314;EAW88315;NP_061871;Q969U6;XP_005266146;XP_005266147 Hs.522507 2153907 WI-16174 DKFZp434B205;Fbw5;MGC20962;RP11-229P13.10 F-box and WD-40 domain protein 5;F-box and WD-40 domain-containing protein 5;F-box/WD repeat-containing protein 5;OTTHUMP00000022659;WD repeat-containing F-box protein FBW5 APPROVED protein-coding ENSG00000159069 HGNC:13613 10955 609072 REVIEWED 1349361 FCGR1B Fc fragment of IgG, high affinity Ib, receptor (CD64) Three distinct, but closely related classes of receptors that bind the Fc portion of IgG have been identified (Fcgamma RI, II and III). The FcgammaRI family consists of three closely related genes termed A, B, and C. This gene encodes the low affinity FcgammaRIB receptor that may play an important role in humoral immune response. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 1 1 1 p11.2 663 2227 + 120926128 120935944 - 121087345 121097161 + 1300184;6480464 9763663 11802953;12477932;12766061;1379234;1430234;17124586;1830050;19330030;21135020;21832933;8697799;8889548;9490697 2210 Q92637 ABBA01151794;AC244453;AK307244;AK308886;AK311502;AL357493;AW134502;BC110416;BM992325;BQ030076;BU682943;CD677904;L03419;L03420;NG_030319;NM_001004340;NM_001017986;NM_001244910;NR_045213 AAA35825;AAA35826;AAI56865;CAI14143;CAI14144;CAI14145;NP_001004340;NP_001017986;NP_001231839;Q92637 Hs.534956 1742053;5024336;5124887 D1S3356;GDB:190043;RH69162 CD64;CD64b;IGFRB;fcRIB Fc fragment of IgG, high affinity Ib, receptor for (CD64);Fc gamma receptor I;Fc-gamma receptor I B2;OTTHUMP00000038537;OTTHUMP00000038538;fc-gamma RIB;hFcgammaRIB;high affinity immunoglobulin gamma Fc receptor IB;igG Fc receptor IB APPROVED protein-coding ENSG00000198019 HGNC:3614 14225 601502 REVIEWED 1352648 FCGR1C Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene The gene represents one of three related immunoglobulin gamma Fc receptor genes located on chromosome 1. This family member lacks the transmembrane and coiled-coiled domains found in other family members and is thought to be a pseudogene of Fc-gamma-receptor 1A. [provided by RefSeq, Apr 2009] 1 1 q21.2 149369294 149378303 + 143874743 143883733 + 1300184;6480464;8554872 9763663 11708889;1379234;16344560;16710414;7566098;8697799;9881690 100132417 A6NKC4 AC239798;AL109948;BF061349;CA309927;CA748521;DA463656;EB386870;M91647;NR_027484;T29148 A6NKC4 Hs.635062;Hs.77424 1742053;5024336 D1S3356;GDB:190043 CD64;CD64c;FCRIC;IGFR1;IGFRC APPROVED pseudo HGNC:3615 601503 REVIEWED 1320511 FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 1 q21.2-q21.3 663 2227 + 149754232 149764074 + 149782677 149792518 + 1300184;1580863;5147925;6480464;6907045 19106808;9763663 10421785;10781611;10879688;10933786;11141335;11359830;11708889;11714794;12006325;12130529;12200451;12217397;12377934;12471137;12477932;12524384;12581186;12756162;12830330;1379234;1402657;1430234;14728877;15087090;15229321;15251320;15252450;15340161;15528366;15878871;15883031;16140266;16517729;16603696;17005690;17124586;17511516;17621550;17764536;17827066;18023480;18063701;18071883;18207250;18279703;1830050;18320015;18321309;18322202;1837149;18604302;18606652;18798798;18826388;18941257;18974296;19011162;19144150;19250681;19635920;19833736;20071662;20080725;20109752;20306688;20418097;20650300;20840056;21061041;21239714;21243031;21325219;21438869;21832933;21965667;22003208;22237765;22251373;22420242;22493081;22967788;23023090;23293080;23452299;23697368;24046202;24463977;24810583;2852656;2911749;2974947;7516890;7687898;8064233;8270248;8530370;8697799;9490697;9820532;9842885 2209 C9JSN8;P12314 AC243772;AK291451;AK291502;AL591493;BC032634;BC152383;DC320241;DQ786309;L03418;M63830;M63831;M63832;M63833;M63834;M63835;M91555;NG_007578;NG_033089;NM_000566;S45709;X14355;X14356;XM_005244957;XM_005244958 AAA35678;AAA36049;AAA58414;AAD13842;AAH32634;AAI52384;ABM81768;ABM84923;BAF84140;BAF84191;CAA32536;CAA32537;CAI12556;CAI12557;NP_000557;P12314;XP_005245014;XP_005245015 Hs.77424 1742053;5024336;5124887 D1S3356;GDB:190043;RH69162 CD64;CD64A;FCRI;FLJ18345;IGFR1 Fc fragment of IgG, high affinity Ia, receptor for (CD64);Fc gamma receptor;Fc-gamma RI;Fc-gamma receptor I A1;IgG Fc receptor I;OTTHUMP00000013913;OTTHUMP00000037678;fc-gamma RIA;fcgammaRIa;high affinity immunoglobulin gamma Fc receptor I APPROVED protein-coding ENSG00000150337 HGNC:3613 00904 146760 REVIEWED 1346227 FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) The protein encoded by this gene is a low affinity receptor for the Fc region of immunoglobulin gamma complexes. The encoded protein is involved in the phagocytosis of immune complexes and in the regulation of antibody production by B-cells. Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 1 1 1 q23 134746188 134751893 + 161632905 161648444 + 161663115 161678654 + 1580863;6480464;6907045;7240526;7240710;7240530;5508403;7240529;7240525;7240540;8554872 15266033;15681388;17053192;18390752;19502269;19640933 10064577;10382761;10789675;11123333;11238632;11359830;11423173;11567028;11576217;11741917;11955599;12115230;12438452;12471137;12477932;12486608;12516568;12729187;12753656;12830330;12858454;14613290;14647193;14651519;15077320;15081531;15153543;15459183;15489334;15506939;15566359;15883031;15914856;15946259;16051361;16115811;16169070;16170323;16227149;16356189;16406061;16531013;16551965;16600368;16603696;16710414;16757681;16785568;16818279;16923849;16934243;17020818;17077019;17130130;17133580;17133600;17142741;17335370;17435165;17474147;17502666;17521421;17873550;18182380;18347005;18625651;18633424;18654664;18705654;18721908;18798552;18798798;18832691;18957413;19005878;19261857;19284648;19309690;19497711;19549396;19672774;19720214;19734236;19946017;20154205;20237496;20385827;20399509;20439936;20507212;20508037;20542180;20588308;20595464;20736173;20850384;21208440;21297633;21338356;21357255;2139735;2142460;21605112;21724994;21746897;21813128;21832933;21906057;21911970;21934067;21940940;21945020;22003931;22065769;22192444;22286219;22416796;22516957;22594540;22879986;23054650;23128233;23203925;23261299;23504312;23509345;23593433;23616574;23628091;23686494;23921129;24030263;24227819;24285839;24366619;24405601;24442430;24470499;24790152;24909272;25022320;2526077;2529342;2531080;3402431;7649565;7716523;8466861;8756631;8940017;9148918;9227318;9490697;9516136 2213 P31994;Q8NIA0 AB050934;AB051387;AB060143;AB060144;AB060145;AB060146;AB060147;AB060148;AB060149;AB060150;AB209585;ABBA01047315;AC243971;AF543826;AI692546;AK308150;AL451067;AW452813;BC031992;BC141826;BC146678;BC148273;CB988406;CH471067;CR407635;DC381078;EF064736;H04104;M28696;M31933;M31934;M31935;NG_023318;NM_001002273;NM_001002274;NM_001002275;NM_001190828;NM_004001;U87560;U87561;U87562;U87563;U87564;U87565;U87566;U87567;U87568;U87569;U87570;U87571;U87572;U87573;U87574;U87575;U87576;U87577;X17653;X52473;X62573 AAA35841;AAA35842;AAA35843;AAA36051;AAD00627;AAD00628;AAD00629;AAD00630;AAD00631;AAD00632;AAD00633;AAD00634;AAD00635;AAD00636;AAD00637;AAD00638;AAD00639;AAD00640;AAD00641;AAD00642;AAD00643;AAD00644;AAH31992;AAI41827;AAI46679;AAI48274;AAQ11739;ABK41919;ABM85451;BAB92093;BAB92094;BAC54013;BAC54014;BAC54015;BAC54016;BAC54017;BAC54018;BAC54019;BAC54020;BAD92822;CAA35644;CAA36713;CAG28563;EAW90679;EAW90680;EAW90681;EAW90682;NP_001002273;NP_001002274;NP_001002275;NP_001177757;NP_003992;P31994 Hs.654395 1660025;1793726;2123326;5015833;5022061;5106821 G06355;GDB:190031;PMC26659P1;RH11110;RH66834;RH69121 CD32;CD32B;CDw32;FCG2;FCGR2;IGFR2;fcRII-b Fc fragment of IgG, low affinity II, receptor for (CD32);Fc fragment of IgG, low affinity IIb, receptor for (CD32);Fc gamma RIIb;OTTHUMP00000032378;OTTHUMP00000032379;OTTHUMP00000082736;fc-gamma RII-b;fc-gamma-RIIb;igG Fc receptor II-b;low affinity immunoglobulin gamma Fc region receptor II-b APPROVED protein-coding ENSG00000072694 HGNC:3618 06849 152700;604590;611162 REVIEWED 1350128 FCGBP Fc fragment of IgG binding protein ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 3,3',4,4'-tetrachlorobiphenyl; 5-aza-2'-deoxycytidine; aflatoxin B1 19 19 19 q13.1 1394 1990 + 40353963 40440910 - 39863323 39934626 - 6480464;8554872 11600203;12208673;15057824;15084671;15203218;16335952;16341674;16740002;17938577;18029348;19056867;19432394;1984453;19956635;20237496;20706999;22761039;24310606;8889548;9182547 8857 Q9Y6R7 ABBA01040735;ABBA01040736;ABBA01040737;ABBA01156677;AC006950;AC007842;AC011536;AC244229;BE294466;BM781647;BQ065661;BU731683;BX113070;CD617655;CH471126;D84239;NM_003890 AAD15624;AAD39266;BAA19526;EAW56926;NP_003881;Q9Y6R7 Hs.111732 1665616;2121086;2137795;2176966 A005P42;RH47259;RH78598;WI-17364 FC(GAMMA)BP Human Fc gamma BP;IgG Fc binding protein;IgGFc-binding protein;fcgamma-binding protein antigen;fcgammaBP protein-coding ENSG00000275395 HGNC:13572 10956 VALIDATED 1347453 FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 4 4 4 q31.3 150566189 150779958 - 153242410 153456393 - 152321258 152535241 - 1580863;6480464;6484113;6907045;8554872 10531037;11425854;11461910;11533444;11565033;11565034;11585921;12183400;12354302;12477932;12628165;12904573;14507635;14536078;14603323;14648662;14702039;14739463;14743216;14871801;14999283;15070733;15103331;15150404;15364936;15467469;15489334;15498494;15520277;15611062;15917200;15980150;16023596;16054087;16169070;16210249;16338364;16344560;16818231;16863506;16938571;17157259;17189384;17274947;17298674;17314511;17320938;17434132;17526737;17558397;17588203;17646408;17646409;17873522;17909001;17909182;17992009;18094723;18198341;18354482;18391985;18414042;18428053;18485478;18541364;18559665;18625840;18660489;18676680;18765672;18784078;18787170;18931460;18938137;19084516;19109228;19111882;19124506;19126544;19170196;19193609;19245433;19340001;19351817;19366810;19420964;19423708;19587092;19625176;19635999;19679664;19692168;19739118;19794083;19847202;20332316;20338046;20388706;20448329;20484041;20534483;20558726;20571051;20622901;20638938;20683149;20815813;20826802;20848231;20852628;20861909;20861920;20890303;20944675;20970423;21070969;21098119;21122106;21134077;21145461;21147854;21205095;21220517;21254166;21368833;21597324;21620836;21798897;21820430;21835957;21860413;21953459;21964756;22108521;22144179;22270966;22285861;22388891;22399798;22405651;22426484;22513362;22576686;22608923;22708077;22710716;22797700;22814294;22848434;22864569;22923510;22939624;22975506;23022380;23040356;23082202;23095493;23108047;23166673;23219661;23228967;23232523;23322298;23324394;23381582;23453757;23507969;23514585;23558291;23623971;23656784;23670162;23676439;23776410;23791182;23820376;23857984;23954152;23955342;24000165;24053468;24085301;24091628;24113472;24165483;24166518;24298052;24362026;24398687;24424791;24752894;24811168;24838835;24884509;24912918;7829101;8051045;8125298 55294 B7Z2C8;G0Z2K0;Q969H0;S4R3N3;S4R3U4 AB209725;ABBA01070122;ABBA01070123;AC023424;AC080078;AF383178;AF411971;AF411972;AI598129;AK001933;AK131383;AK223449;AK294568;AK299722;AK315142;AMYH02010308;AMYH02010309;AW965611;AY008274;AY033553;AY049984;BC014503;BC037320;BC059373;BC117244;BC117246;BC143944;BF514288;BI496455;BX498391;CH471056;CR749305;DA321362;HQ873864;HQ873865;HQ873866;HQ873867;HQ873868;HQ873869;HQ873870;NG_029466;NM_001013415;NM_001257069;NM_018315;NM_033632;W39194 AAG16640;AAH37320;AAI17245;AAI17247;AAI43945;AAK57547;AAK60269;AAL06290;AAL06291;AAL07271;ADR83102;AEK48270;AEK48271;AEK48272;AEK48273;AEK48274;AEK48275;AEK48276;BAA91986;BAD92962;BAD97169;BAH11814;BAH13109;CAH18160;EAX04977;EAX04978;EAX04979;NP_001013433;NP_001243998;NP_060785;NP_361014;Q969H0 Hs.561245;Hs.717081 1644556;1645892;1676402;1710374;1754771;1797094;2130400;2175193;2180205;5016037 D4S957;DKFZP434I0714;Fbxw7;GDB:313807;RH16593;SHGC-33385;SHGC-34878;SHGC-59612;SHGC-67303;SHGC-82456 AGO;CDC4;DKFZp686F23254;FBW6;FBW7;FBX30;FBXO30;FBXW6;FLJ16457;SEL-10;SEL10;hAgo;hCdc4 F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila);F-box and WD-40 domain-containing protein 7;F-box protein FBW7;F-box protein FBX30;F-box protein SEL-10;F-box/WD repeat-containing protein 7;archipelago;archipelago homolog;archipelago, Drosophila, homolog of;homolog of C elegans sel-10 APPROVED protein-coding ENSG00000109670 HGNC:16712 05888 606278 REVIEWED 1322068 FCF1 FCF1 rRNA-processing protein ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN rRNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); small-subunit processome (inferred); INTERACTS WITH 17beta-estradiol; atrazine; coumestrol 14 14 14 q24.3 55218214 55241759 + 75179817 75205323 + 74713115 74738620 + 6480464;6907045;8554872 10810093;11230166;12477932;12508121;14702039;15198809;15635413;16762320 51077 G3V1S4;G3V2M5;G3V3N8;G3V5D2;G3V5L8;G3V5S9;Q4FZ45;Q66K47;Q9Y324 ABBA01030713;ABBA01030714;AC007956;AF132969;AK021636;AK057060;AK290666;AMYH02029522;BC022361;BC080600;BX248271;BX489015;BX647810;CH471061;NM_015962;XM_005267730;XM_005267731;XR_245689;XR_245690;XR_245691 AAD27744;AAH80600;BAF83355;CAD62599;CAJ18322;EAW81187;EAW81188;EAW81189;EAW81190;EAW81191;EAW81192;EAW81193;NP_057046;Q9Y324;XP_005267787;XP_005267788 Hs.579828;Hs.711584 1643998;1647064;1649575;1768734;1772928;2124173;2149151;2180775;5015404;5020740;5022578;5024413;5123006 D14S915;D1S1423;G35454;G35513;G35628;G35649;G35864;G36210;L17705;L17809;L17877;SGC33959;WI-11347 Bka;C14orf111;CGI-35;MGC99629;UTP24 FCF1 small subunit;OTTHUMP00000246145;OTTHUMP00000246148;OTTHUMP00000246149;chromosome 14 open reading frame 111;rRNA-processing protein FCF1 homolog APPROVED protein-coding HGNC:20220 12633 VALIDATED 736100 FCGRT Fc fragment of IgG, receptor, transporter, alpha This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 19 19 19 q13.3 46884871 46899020 + 50015536 50029685 + 49512279 49526428 + 704404;1580863;6480464 10933786;10998088;11207281;11717196;12006623;12023961;12144784;12477932;12538789;12566415;12885906;12972260;14630397;14764666;14767057;15258288;15340161;15489334;15644205;15654966;15689494;16229888;16303743;16549777;16805790;16849638;17046328;17048273;17384151;17674040;17703228;17709515;18003977;18566411;18599440;18637944;18684948;18843053;19164298;19275696;19362735;19423540;19451275;19462839;19772792;20006594;20018855;20083659;20139978;20406964;20438785;20452034;20592032;20627700;20639872;20930418;21256596;21368166;21690327;22215085;22570488;23022100;23220220;23286945;23384837;23741050;23751752;23765230;23917469;24278022;24469444;24550358;24652290;7964511;8145026;8646894;8871627;9439449;9493268 2217 M0QYM4;M0QYN1;M0QYN9;M0R0A9;M0R0H0;M0R0K7;M0R220;M0R266;M0R2T3;P55899 ABBA01032921;ABBA01032922;AC010619;AF200220;AF220542;AF453513;AF453514;AF453515;AF453516;AF453517;AK074734;AK075510;AK075532;AK299124;AMYH02036319;AMYH02036320;AMYH02036321;BC008734;BC020421;BC091487;BE245284;BI520292;BT006828;BX647163;CH471177;DC312637;EF064735;NM_001136019;NM_004107;U12255;XM_005258657;XM_006723086 AAA58958;AAF72596;AAG31421;AAH08734;AAM27922;AAM27923;AAM27924;AAM27925;AAM27926;AAP35474;ABK41918;ABM84470;ABM84734;BAG52159;BAG52164;BAH12955;CAI46032;EAW52498;EAW52499;EAW52500;NP_001129491;NP_004098;P55899;XP_005258714;XP_006723149 Hs.111903 1700198;1854613;2110403 FCGRT_2894;RH103715;SHGC-12954 FCRN;alpha-chain FcRn alpha chain;IgG Fc fragment receptor transporter alpha chain;IgG receptor FcRn large subunit p51;fc receptor, igg, alpha chain transporter;immunoglobulin receptor, intestinal, heavy chain;major histocompatibility complex class I-like Fc receptor;neonatal Fc receptor;neonatal Fc-receptor for Ig APPROVED protein-coding ENSG00000104870 HGNC:3621 03257 601437 REVIEWED 1348405 FCHO2 FCH domain only 2 ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); phosphatidylinositol-4,5-bisphosphate binding (ortholog); phosphatidylserine binding (ortholog); INVOLVED IN clathrin coat assembly; clathrin-mediated endocytosis; membrane invagination (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN clathrin-coated vesicle; coated pit; plasma membrane (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 5 5 5 q13.2 68147183 68281688 + 72251808 72386349 + 72955981 73090522 + 737633;6480464;8554872 12477932 11076863;11230166;14702039;15254787;15372022;15489334;15489336;16381901;16964243;17540576;19380743;21762413;21890473;21963094;22323290;22484487;23000965;24250222 115548 H0YAE2;H7BXJ4;Q0JRZ9 ABBA01061912;ABBA01061913;ABBA01061914;AC008972;AC020893;AC020942;AK291782;AK293796;AK295141;AL831971;AL832928;AL833313;AMYH02011557;AMYH02011558;BC006004;BC014311;BC137070;CH471084;NM_001146032;NM_138782 AAH06004;AAH14311;AAI37071;BAF84471;BAG57208;BAG58162;CAL38169;CAL38715;EAW95716;NP_001139504;NP_620137;Q0JRZ9 Hs.165762 1668506;2149980;2156107;2172429;2172431 A005N16;G20348;RH36369;RH65891;STS-AA027349 FCH domain only protein 2;OTTHUMP00000221971;OTTHUMP00000222418 protein-coding ENSG00000157107 HGNC:25180 13319 613438 VALIDATED 1316933 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008] 1 1 1 q23 134682428 134687972 + 161475205 161489360 + 161505415 161519570 + 1580863;2316290;4144121;4144095;5508446;5508453;5147918;5147980;5147921;5147924;5508457;5147919;5508439;5147982;5147984;5147917;5129707;5508383;5508430;5147925;5147916;5147923;5147972;5147974;5147977;5147983;5147927;5147975;5147979;5147987;5147922;5147976;5147985;5147988;5147920;5147926;5147973;5147978;5147986;6480464;6907045;7240710 10792385;11561111;12508778;12576552;12864991;14747618;15004265;1533683;15367919;16550341;16623928;16846526;17092257;17557887;17617565;17900300;17975174;18204446;18354234;19050295;19106808;19357503;19414806;19490059;19915573;19965803;20034444;20471070;20585032;20848524;20973705;21317643;21719445;7564170;8254199;9002937;9117017 10331870;10382761;10397151;10675363;10704522;10781611;11099670;11110978;11141335;11145038;11229467;11237133;11263776;11398118;11480843;11528518;11699473;11740730;11812402;11835346;11913983;11937562;11953994;11976734;12027254;12064825;12095061;12115187;12121275;12176802;12215902;12363051;12390315;12393699;12421634;12447772;12477932;12486608;12492589;12493400;12501257;12571856;12626795;12643213;12690104;12710759;12729187;12752683;12830330;12832410;12834496;12847687;12857726;12858454;12867584;12871511;12893767;12960360;1379234;14514134;14597109;14641546;14651519;14734773;14740869;14761117;14976391;15140146;15152814;15153543;15166534;15171001;15190804;15191947;15194589;15194692;15217834;15251320;15319871;15351857;15369725;15371685;15457442;15483014;15535834;15583733;15675264;15735807;15742161;15744239;15833371;15878871;15910853;15946259;16005880;16107886;16110781;16133986;16150646;16160618;16169188;16177087;16185324;16198451;16200626;16221721;16277670;16356189;16421008;16511922;16542359;16551965;16569263;16606986;16682723;16709925;16751395;16785568;16805673;16846215;16880255;16889631;16893392;17005690;17018637;17020818;17046568;17092253;17118455;17134755;17142741;17291475;17315188;17324336;17335370;17523948;17582430;17587350;17588661;17594928;17596285;17606457;17642530;17650444;17652100;17665457;17673295;17704420;17710620;17785206;17845308;17848620;17877745;17921137;18022136;18025239;18029348;18052703;18071035;18165525;18180796;18194515;18311806;18337560;18347005;18349392;18372357;18418394;18474295;18535921;18539895;18633131;18636124;18641368;18793404;18832675;18843786;18930989;18936436;18957413;19012493;19026120;19040302;19055599;19088437;19100392;19127818;19129718;19140833;19164213;19184295;19197137;19201892;19232413;19235048;19262684;19284648;19309690;19331818;19372459;19420354;19423540;19480687;19494086;19494328;19497711;19573080;19640933;19664613;19672774;19692168;19720214;19773279;19776239;19892918;19898481;19913121;19926792;19933905;20007585;20047592;20054293;20148910;20149216;20154205;20207250;20215002;20228799;20237496;20356573;20367096;20406964;20438785;20439102;20439936;20453000;20508037;20519616;20542180;20550522;20551103;20568250;20588308;20628086;20634666;20644561;20697800;20705761;20707220;20716621;20720565;20736173;20802378;20848568;20881011;20929558;20935224;21042730;21044892;21048031;21054877;21123174;21168221;21297633;21324097;21357544;21372129;2139735;21607711;21657954;21768177;21780194;21818580;21831733;21832933;21856937;21945020;21956105;22081228;22123287;22138510;22167032;22268665;22286219;22289203;22305465;22446962;22489915;22540264;22542851;22559288;22565545;22623428;22628489;22649103;22677127;22817980;22885164;22903236;22906996;22908332;22945762;22955924;23023090;23128233;23239500;23249566;23270585;23286345;23345329;23372157;23444610;23458236;23483488;23498761;23504312;23509345;23517907;23545275;23551080;23616574;23649770;23652523;23780683;23782136;23965133;23994584;24039173;24117665;24191245;24258815;24356554;24366619;24390342;24554771;24665136;2526077;2527651;2529342;2531919;2824655;2965389;2967437;2971615;3402431;8125298;8631888;8636449;8756631;8940017;9268059;9280292;9295288;9490697 2212 F5GX41;F5GXY9;P12318;V9GY55;V9GY83 A21604;ABBA01047318;ABBA01047319;AC243509;AF416711;AI250177;AK225438;AK225601;AK226059;AK298657;AK298734;AK315225;AL590385;BC019931;BC020823;J03619;M28697;M31932;NG_012066;NM_001136219;NM_021642;X62572;XM_005244960;Y00644 AAA35827;AAA35932;AAA36050;AAH19931;AAH20823;AAL78867;ABM82963;ABM86154;BAG37654;BAH12840;BAH12860;CAA01563;CAA68672;NP_001129691;NP_067674;P12318;XP_005245017 Hs.352642 2131083;2137036;2160120;2162517;5015833;5037552 AL009695;D1S3418;D8S2279;GDB:190031;RH17750;RH68292 CD32;CD32A;CDw32;FCG2;FCGR2;FCGR2A1;FcGR;IGFR2;MGC23887;MGC30032 Immunoglobulin G Fc receptor II;OTTHUMP00000032376;OTTHUMP00000032377;fc fragment of igg, low affinity iia, receptor for (cd32);fc-gamma RII-a;fc-gamma-RIIa;fcRII-a;igG Fc receptor II-a;low affinity immunoglobulin gamma Fc region receptor II-a APPROVED protein-coding ENSG00000143226 HGNC:3616 00906 146790;219700;611162 REVIEWED 1347412 FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b) The protein encoded by this gene is a low affinity receptor for the Fc region of gamma immunoglobulins (IgG). The encoded protein acts as a monomer and can bind either monomeric or aggregated IgG. This gene may function to capture immune complexes in the peripheral circulation. Several transcript variants encoding different isoforms have been found for this gene. A highly-similar gene encoding a related protein is also found on chromosome 1. [provided by RefSeq, Aug 2012] 1 1 1 q23 1080 1410 + 161592986 161601753 - 161623196 161631963 - 1580863;6480464;6907045;8554872 10917521;11021536;11034564;11099670;11359830;11379895;11528518;11699473;11740730;11835346;11897993;12027254;12064825;12076295;12115243;12121275;12176802;12393699;12421634;12445195;12447772;12477932;12486608;12501257;12710759;12753656;12830330;12834496;12839649;12858454;12864991;12867584;12898191;14597109;14634123;14651519;14740435;14761117;15152814;15194589;15245367;15369725;15457442;15500735;15526004;15688433;15713217;15783303;15833371;15889368;15910853;15934433;15946259;15974849;16110781;16133986;16155708;16160618;16171455;16344560;16356189;16467081;16482158;16542359;16550341;16598772;16805673;16889631;16899095;17335370;17523948;17529978;17584599;17596285;17710620;17847104;18052703;18156711;18372357;18408222;18452102;18559452;18843786;19026120;19100392;19201911;19218011;19309690;19317341;19320901;19342628;19497711;19502269;19640933;19720214;19741716;19892918;19913121;19946017;19946035;20041976;20133350;20149216;20300756;20356573;20364047;20367096;20379614;20439936;20442749;20472591;20508037;20536598;20628086;20664961;20707220;20720565;20924590;20957197;20980704;21109729;21123174;21227406;21296850;2139735;21818580;21832933;21895673;21937707;22167032;22290871;22309893;22512913;22551723;22565545;22770404;22837109;22942264;22999728;23049979;23128233;23261299;23281059;23398146;23649770;23778324;23917248;23935200;24191245;24205492;24554771;2521732;2525780;2526846;2967436;7836402;8940055;9028335;9743356 2215 E9PNY5;H0Y4U3;M9MML6;O75015 AB025256;ABBA01005654;ABBA01005655;AC243971;AJ581669;AK313219;AK316565;AL451067;BC128562;DA669913;DA670720;DA671001;DA672751;DA672763;DA673839;DC428645;DC428702;J04162;M24854;NG_032926;NM_000570;NM_001244753;NM_001271035;NM_001271036;NM_001271037;X07934;X16863;Z46223 AAA35881;AAA53507;AAI28563;BAA83803;BAG38154;CAA30758;CAA34753;CAA86296;CAE46408;NP_000561;NP_001231682;NP_001257964;NP_001257965;NP_001257966;O75015 Hs.372679;Hs.694258;Hs.736230 1742051;1793204;1793728;2121945;2178714 GDB:190042;PMC20248P1;PMC26659P2;RH11453;SHGC-35267 CD16;CD16b;FCG3;FCGR3;FCR-10;FCRIII;FCRIIIb Fc fragment of IgG, low affinity IIIb, receptor for (CD16);Fc-gamma receptor IIIb (CD 16);OTTHUMP00000082739;OTTHUMP00000082740;OTTHUMP00000229102;fc-gamma RIII;fc-gamma RIII-beta;fc-gamma RIIIb;igG Fc receptor III-1;low affinity immunoglobulin gamma Fc region receptor III-B APPROVED protein-coding ENSG00000162747 HGNC:3620 09951 610665 REVIEWED 1317013 FCHO1 FCH domain only 1 ENCODES a protein that exhibits AP-2 adaptor complex binding; INVOLVED IN clathrin coat assembly; clathrin-mediated endocytosis; FOUND IN clathrin-coated vesicle; coated pit; plasma membrane; INTERACTS WITH copper atom; copper(0); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.11 17760312 17801121 + 17858527 17899377 + 17747718 17788568 + 737633;6480464 12477932 15489334;15761153;16169070;16344560;17617719;19713939;20448150;21145461;21832049;22484487;24816145;9179496 23149 B7ZAZ3;M0QXD1;M0QXW2;M0QXY1;M0QY09;M0QYA9;M0QYN8;M0QYT8;M0QZE1;M0QZF0;M0QZI3;M0QZI9;M0QZS1;M0R0U5;M0R107;M0R1K4;M0R2J7;M0R3E5;M0R3E7;O14526 AB006628;ABBA01051229;ABBA01051230;ABBA01051231;AC008761;AK291410;AK303623;AK309403;AK316458;AMYH02035713;AMYH02035714;AX405906;BC028021;BC041130;BI756664;BQ433639;CH471106;DB158605;KF456522;NM_001161357;NM_001161358;NM_001161359;NM_015122;XM_005259831;XM_006722701;XM_006722702;XM_006722703 AAH28021;AAH41130;BAA22959;BAF84099;BAG64632;BAH14829;CAD35013;EAW84628;EAW84629;EAW84630;NP_001154829;NP_001154830;NP_001154831;NP_055937;O14526;XP_005259888;XP_006722764;XP_006722765;XP_006722766 Hs.96485 2112376 D7S3016E KIAA0290 FCH domain only protein 1 protein-coding ENSG00000130475 HGNC:29002 16887 613437 VALIDATED 1317900 FCHSD1 FCH and double SH3 domains 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; cisplatin; lead(0) 5 5 5 q31.3 137095597 137107714 - 141018869 141030986 - 141639302 141651419 - 6480464;8554872 11214971;12477932;12975309;14702039;14980202;15067381;15489334;15815621;19041431;19913121;20379614;20467438;20628086;22558309 89848 E5RGB1;E5RGT6;E5RK49;Q86WN1 ABBA01026405;AC008781;AC022420;AF086518;AK000007;AK027281;AK126203;AMYH02012347;AY217346;AY358478;BC047016;CH471062;NM_033449;XM_005268524;XM_006714803;XM_006714804;XR_427781 AAH47016;AAO45099;AAQ88842;BAA92232;EAW61908;EAW61909;EAW61910;NP_258260;Q86WN1;XP_005268581;XP_006714866;XP_006714867 Hs.591257 1785646;2136778;2151791 D5S1541;SHGC-171529;SHGC-58411 FLJ00007;NWK2 FCH and double SH3 domains protein 1;OTTHUMP00000224783;OTTHUMP00000224785;nervous wreck homolog 2 protein-coding ENSG00000197948 HGNC:25463 13320 VALIDATED 736450 FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a) This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other other antibody-dependent responses. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q23 514 2748 + 161511549 161520413 - 161541759 161550737 - 1598927;1598928;1580863;5508400;5508402;5508439;5508444;5508430;5508443;5508388;5508391;5508403;5508432;5508449;5508463;5508217;5508389;5508390;5508428;5508464;5508467;5508375;5508377;5508383;5147974;6480464;6907045;8699517;7240710;8554872 12576552;15334114;15910853;16221721;16520389;16846526;18155780;18199088;18625651;19005160;19019892;19026120;19050295;19414806;19493236;19640933;19946017;20589683;21187939;21370226;21947961;2478590;8453794;8874200 10706735;10961879;11022771;11027634;11034564;11037893;11145038;11229467;11263776;11359830;11528518;11696221;11699473;11722422;11740730;11756173;11806974;11808760;11835346;11850593;11884455;11895784;11955599;11986321;12027254;12036208;12064825;12121275;12176802;12379528;12393699;12445195;12447772;12477932;12486608;12492589;12501257;12618859;12626795;12631364;12649399;12710759;12734884;12756162;12830330;12834496;12847896;12858454;12864991;14526422;14563637;14597109;14651519;14740435;14987319;15037082;15144186;15152814;15153543;15188374;15191947;15194589;15217834;15269840;15299021;15457442;15483014;15526004;15535834;15659493;15767342;15778339;15833371;15946259;15998631;16110781;16133986;16142749;16160618;16181633;16277670;16310791;16330541;16344560;16356189;16542359;16550341;16609067;16682723;16709862;16716162;16934243;16981896;17108815;17202140;17207965;17265480;17324336;17335370;17457599;17475889;17475906;17523948;17594928;17596285;17600378;17606457;17650444;17652100;17704420;17710620;17878347;17899539;17922423;18050249;18052703;18174382;18347005;18349392;18372357;18452102;18475309;18556407;18565259;18636124;18664531;18715866;18768831;18768879;18787406;18804983;18843786;18930989;18979096;19018870;19100392;19140833;19164213;19180470;19221562;19283441;19309690;19320901;19333136;19342628;19672774;19700393;19758217;19843059;19892918;19913121;19933905;20018222;20047592;20059375;20102624;20137370;20138184;20149216;20185670;20207982;20333387;20379614;20400988;20418097;20423913;20439102;20439936;20508037;20542180;20550522;20551103;20553754;20560817;20628086;20636398;20644561;20664961;20697800;20705761;20707220;20723308;20730791;20848524;20884651;20935224;20980704;21036743;21042730;21091537;21091999;21094802;21129274;21191073;21208440;21270398;21303362;21339041;21361908;2138330;2139735;2146219;21541219;21561106;21657954;21667346;21760529;21768335;21785957;21830210;21832049;21832933;21883784;21900198;21924179;21988832;21999172;22059994;22123287;22167032;22180442;22271896;22290871;22366323;22366371;22438420;22496218;22565545;22613847;22634259;22885164;22906996;22914441;22915639;22955924;22961048;23006327;23023090;23024279;23045477;23046723;23075294;23114687;23128233;23171437;23179144;23249566;23294992;23316106;23334594;23376083;23460612;23480226;23487023;23505228;23509345;23649770;23680410;23780683;23851692;23917248;23965133;23982074;24008160;24039173;24131500;24240977;24337742;24469995;24487381;24652987;24662005;24782186;24810583;2521732;2525780;2526846;2967436;7516890;7543538;7700021;7819147;7836402;8125298;8157290;8189062;8258691;8405050;8503991;8609432;8940055;8945479;9242542;9276722;9378963;9743356 2214 C9JC71;E9PG94;H0Y755;M9MML0;P08637 AB032414;ABBA01013566;ABBA01047317;AC243509;AF162790;AK223268;AK223295;AK302126;AL590385;BC017865;BC033678;BC036723;BI768140;DA674960;DA933259;DA944383;DA957430;HC728087;M24853;NG_009066;NM_000569;NM_001127592;NM_001127593;NM_001127595;NM_001127596;S62490;S76824;X52645;XM_006710063;XM_006710064;XM_006711211;Z46222 AAA53506;AAB33925;AAD48438;AAH17865;AAH33678;AAH36723;ADQ31624;BAA86888;BAD96988;BAD97015;BAG63503;CAA36870;CAA86295;CBL93996;NP_000560;NP_001121064;NP_001121065;NP_001121067;NP_001121068;P08637;XP_006710126;XP_006710127;XP_006711274 Hs.372679 1648258;1680515;1742051;1793204;1793728;2178714 GDB:190042;PMC20248P1;PMC26659P2;RH11453;RH79714;WI-16134 CD16;CD16A;FCG3;FCGR3;FCGRIII;FCR-10;FCRIII;FCRIIIA;IGFR3;IMD20 CD16a antigen;Fc fragment of IgG, low affinity III, receptor for (CD16);Fc gamma receptor III-A;Fc-gamma RIII-alpha;Fc-gamma RIIIa;Fc-gamma receptor III-2 (CD 16);Fc-gamma receptor IIIb (CD16);FcgammaRIIIA;OTTHUMP00000032374;OTTHUMP00000040694;OTTHUMP00000196093;OTTHUMP00000196094;fc receptor, igg, low affinity iii;fc-gamma RIII;igG Fc receptor III-2;immunoglobulin G Fc receptor III;low affinity immunoglobulin gamma Fc region receptor III-A;neutrophil-specific antigen NA APPROVED protein-coding ENSG00000203747 HGNC:3619 00903 146740;615707 REVIEWED 1343825 FCP1 F-cell production 1 ASSOCIATED WITH Congenital Cataracts, Facial Dysmorphism, And Neuropathy (inferred) 7240710 2461753 2221 HGNC:3627 305435;604168 1323109 FCRL2 Fc receptor-like 2 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains one immunoreceptor-tyrosine activation motif and two immunoreceptor-tyrosine inhibitory motifs. This protein may be a prognostic marker for chronic lymphocytic leukemia. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Apr 2009] 1 1 1 q21 130786697 130818104 - 157715523 157747119 - 157745733 157777329 - 6480464 11162587;11493702;11929751;12037601;12477932;12975309;15340161;15489334;16710414;16849395;17273841;18314442;18704934;18802695;19682311;20237496;21068405 79368 B4DVJ9;B4E0W2;Q96LA5 ABBA01016636;AF319438;AF319439;AF319440;AF390037;AF459633;AK301113;AK303549;AL356276;AL833194;AMYH02001997;AY043465;AY358130;BC069185;BC129836;CH471121;EF064733;NM_001159488;NM_030764;NR_125358;XM_005245486;XM_006711531;XM_006711532;XM_006711533;XM_006711534;XM_006711535;XM_006711536 AAH69185;AAI29837;AAK01402;AAK01403;AAK01404;AAK91778;AAL60249;AAM12152;AAQ88497;ABK41916;BAG62711;BAG64574;EAW52864;EAW52865;EAW52866;EAW52867;EAW52868;EAW52869;NP_001152960;NP_110391;Q96LA5;XP_005245543;XP_006711594;XP_006711595;XP_006711596;XP_006711597;XP_006711598;XP_006711599 Hs.437393 2142069;2146213;5015619;5022200;5037552 AL009290;D11S3114;D8S2279;L18426;SHGC-63629 CD307b;FCRH2;IFGP4;IRTA4;SPAP1;SPAP1A;SPAP1B;SPAP1C Fc receptor-like protein 2;IFGP family protein 4;OTTHUMP00000020928;OTTHUMP00000020931;SH2 domain containing phosphatase anchor protein 1;SH2 domain-containing phosphatase anchor protein 1;fc receptor homolog 2;fcR-like protein 2;immune receptor translocation-associated protein 4;immunoglobulin receptor translocation-associated protein 4;immunoglobulin superfamily Fc receptor, gp42 APPROVED protein-coding ENSG00000132704 HGNC:14875 07351 606509 REVIEWED 1348305 FCN3 ficolin (collagen/fibrinogen domain containing) 3 Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 26092884 26098611 - 27695601 27701315 - 27369110 27374824 - 1580863;7240710;6480464;8699517;8554872 10330454;11907111;12367778;12477932;12624729;12975309;14702039;14718574;15340161;15489334;16303743;16335952;16641997;17215869;17303612;17469142;18006063;18032536;18261799;1859827;19109177;19208603;19220833;19939495;20237496;21085669;21851923;22082351;22226667;22238349;22471352;22670778;2276712;22851708;23107985;23142462;23416240;23596511;23744477;25001927;9694814 8547 O75636;Q5SSB9;Q6UXM4 ABBA01034970;AK075140;AK309540;AMYH02000599;AY358081;AY358283;AY756173;BC020731;CH471059;CQ783202;CR456808;FO393419;NG_016279;NM_003665;NM_173452 AAH20731;AAQ88448;AAQ88650;AAU85296;ABM82954;ABM86146;BAC11429;CAF86408;CAG33089;EAX07756;EAX07757;NP_003656;NP_775628;O75636 Hs.333383 2136968;2143126 D1S3293;SHGC-74468 FCNH;HAKA1;MGC22543 H-ficolin;OTTHUMP00000006338;OTTHUMP00000006339;collagen/fibrinogen domain-containing lectin 3 p35;collagen/fibrinogen domain-containing protein 3;ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen);ficolin 3;ficolin-3 APPROVED protein-coding ENSG00000142748 HGNC:3625 05399 604973;613860 REVIEWED 1350900 FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 108286486 108293196 + 137772658 137779366 + 134864597 134887706 + 1580863;6480464;8554872 10232391;11446374;12421953;12477932;14660572;14702039;14707097;15331601;16076493;16820685;16839748;17215869;17382393;17386030;17680820;18032536;18486240;18950864;19056867;19109177;19220833;19434912;19632990;19664148;19728924;19767106;20237496;20593422;20682603;20937340;21327568;21334396;22082351;22140517;22173059;22350641;22457818;22594803;22670778;22693230;22892990;23298162;23383108;23423485;23525825;23593180;23619474;23744477;23911396;24040095;24182802;24227370;24453114;24928988;7498469;8576206;8884275;9202708;9777405 2220 Q15485;Q3B834 ABBA01030015;ABBA01030016;AI052239;AK096112;AK290843;AK308476;AL603650;AMYH02021858;BC069572;BC069825;BC113935;CH471090;D49353;D63160;DQ217935;JB054537;NG_011649;NM_004108;NM_015837;XM_006717015 AAH69572;AAH69825;AAI13936;ABB01005;BAA08352;BAA09636;BAF83532;CCV66758;EAW88133;EAW88134;EAW88135;EAW88136;NP_004099;NP_056652;Q15485;XP_006717078 Hs.54517 1653701;1675102 RH71323;STS-H62842 EBP-37;FCNL;P35 37 kDa elastin-binding protein;L-ficolin;OTTHUMP00000022518;collagen/fibrinogen domain-containing protein 2;ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin);ficolin B;ficolin-2;ficolin-B;ficolin-beta;serum lectin p35 APPROVED protein-coding ENSG00000160339 HGNC:3624 03376 601624 REVIEWED 1351597 FCN1 ficolin (collagen/fibrinogen domain containing) 1 The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008] 9 9 9 q34 108315253 108323628 - 137797711 137809849 - 134905865 134918003 - 1580863;6480464;8554872 10679061;12477932;12624729;15117939;15340161;15489334;16305643;17148457;17581635;17928056;17938215;18029348;18032536;18343499;19539995;19741154;19853918;20032467;20237496;20375634;20400674;21037097;21112665;21490156;21689722;21974696;22236007;22391637;22673311;22889273;22941510;23182717;23184524;23209787;23383108;23817411;24022747;24161415;7686157;8573080;8576206;8884275;8947836;9202708;9777405 2219 O00602;Q92531 ABBA01030016;AK314867;AL353611;AL603650;AMYH02021858;BC020635;BG482630;CH471090;CR749452;D63394;D83920;HH958039;NM_002003;XM_005263399 AAH20635;ABM82352;ABM85362;BAA09707;BAA12120;BAG37382;CAH18289;CBX51283;EAW88137;EAW88138;EAW88139;EAW88140;NP_001994;O00602;XP_005263456 Hs.440898 1852434;2127644;2191457 MARC_23630-23631:1027528738:1;RH70225;STS-AA037000 FCNM M-ficolin;OTTHUMP00000022519;collagen/fibrinogen domain-containing protein 1;ficolin (collagen/fibrinogen domain-containing) 1;ficolin-1;ficolin-A;ficolin-alpha APPROVED protein-coding ENSG00000085265 HGNC:3623 03153 601252 REVIEWED 1602077 FCRL1 Fc receptor-like 1 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains three extracellular C2-like immunoglobulin domains, a transmembrane domain and a cytoplasmic domain with two immunoreceptor-tyrosine activation motifs. This protein may play a role in the regulation of cancer cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 1 1 1 q21-q22 130835377 130861125 - 157764193 157789940 - 157794403 157820150 - 6480464;8554872 11493702;11929751;12037601;12477932;14702039;15479727;16344560;16849395;17207965;17273841;17895404;18704934;18802695;20237496;20379614;22888639;23950870 115350 Q96LA6 ABBA01016636;AF329488;AF459634;AK096690;AK315748;AL139409;AL356276;AL833674;AL833970;AMYH02001997;AY043464;BC021274;BC033690;CH471121;DA939902;EF064734;NM_001159397;NM_001159398;NM_052938;XM_005244866;XM_005244867;XM_005244869 AAH33690;AAK91777;AAL23898;AAL60250;ABK41917;ADQ31817;BAC04842;BAG38102;CAD38815;EAW52860;EAW52861;EAW52862;EAW52863;NP_001152869;NP_001152870;NP_443170;Q96LA6;XP_005244923;XP_005244924;XP_005244926 Hs.656112 1336192;1688935;1698096;2157203 D1S1600;RH102580;RH68097;RH93564 CD307a;DKFZp667O1421;FCRH1;IFGP1;IRTA5;hIFGP1 Fc receptor-like protein 1;IFGP family protein 1;OTTHUMP00000020924;OTTHUMP00000020925;OTTHUMP00000020926;fc receptor homolog 1;fcR-like protein 1;immune receptor translocation-associated protein 5;immunoglobulin superfamily Fc receptor, gp42 APPROVED protein-coding ENSG00000163534 HGNC:18509 07350 606508 REVIEWED 1603196 FCRL4 Fc receptor-like 4 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains three immune-receptor tyrosine-based inhibitory motifs. This protein may play a role in the function of memory B-cells in the epithelia. Aberrations in the chromosomal region encoding this gene are associated with non-Hodgkin lymphoma and multiple myeloma. [provided by RefSeq, Apr 2009] 1 1 1 q21 130614746 130639074 - 157543539 157567870 - 157573749 157598080 - 6480464;8554872 11290337;11493702;11929751;12037601;12477932;12619161;12881317;14597715;16079106;16157685;16849395;17273841;18704934;18802695;19592645;20237496;20379614;21908428;21982860;22491254;22716304;22777505;23855758;24162774 83417 Q96PJ5 ABBA01016637;AF329490;AF329492;AF343659;AF343660;AF343661;AF397452;AL135929;AMYH02001995;BC125173;BC125174;BC143628;CH471121;EF064731;NM_031282;XR_241099 AAI25174;AAI25175;AAK31322;AAK31323;AAK31324;AAK93970;AAL23900;AAL23902;ABK41914;EAW52882;EAW52883;NP_112572;Q96PJ5 Hs.120260 2114990;2166087 AL009663;D1S2118 CD307d;FCRH4;IGFP2;IRTA1;MGC150522;MGC150523;hIFGP2 Fc receptor-like protein 4;IFGP family protein 2;OTTHUMP00000033529;fc receptor homolog 4;fcR-like protein 4;immune receptor translocation-associated protein 1;immunoglobulin superfamily Fc receptor, gp42;immunoglobulin superfamily receptor translocation associated 1 APPROVED protein-coding ENSG00000163518 HGNC:18507 16168 605876 REVIEWED 1604549 FCRL3 Fc receptor-like 3 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. [provided by RefSeq, Jul 2008] 1 1 1 q21-q22 130719142 130741828 - 157646271 157670775 - 157676481 157700985 - 6480464;8554872 11493702;11929751;12014205;12051764;12477932;14702039;15838509;16176992;16384851;16476711;16519819;16859508;16911635;17020818;17117947;17133579;17133581;17154080;17179172;17200162;17273841;17389014;17617473;17763442;17868046;17961971;18065500;18087673;18313765;18556175;18704934;19050767;19158815;19235910;19438904;19452015;19494275;19565352;19605748;19657722;19690864;19843936;19877046;19953494;20190142;20237496;20732364;21078711;21299530;21529967;21663782;21829393;21833088;21841780;21885492;22341374;22386693;22392608;22458979;22706687;23070121;23463945;23505439;23512175;23553198;23777926;23857366;23883198;24117236;24390342 115352 Q96P31;R4GNJ6 ABBA01016637;AF416901;AF416902;AF416903;AF416904;AF416905;AF459027;AK098122;AK125622;AK301257;AL356276;AL833391;AMYH02001996;AMYH02001997;AY043466;BC013698;BC028933;BX496349;CD690165;CH471121;NG_023241;NM_052939;XM_005244872;XM_006711145;XM_006711146;XM_006711147;XR_241065 AAH28933;AAK91779;AAL13290;AAL13291;AAL13292;AAL13293;AAL13294;AAL59390;ABM83385;ABM86598;BAG53580;BAH13442;EAW52870;EAW52871;EAW52872;EAW52873;EAW52874;EAW52875;EAW52876;EAW52877;EAW52878;EAW52879;EAW52880;EAW52881;NP_443171;Q96P31;XP_005244929;XP_006711208;XP_006711209;XP_006711210 Hs.292449 1774697;2116832 AL009767;D1S3139 CD307c;FCRH3;IFGP3;IRTA3;SPAP2;hIFGP3 Fc receptor homolog 3;Fc receptor-like protein 3;IFGP family protein 3;OTTHUMP00000020932;OTTHUMP00000020933;OTTHUMP00000020934;OTTHUMP00000020935;OTTHUMP00000020936;OTTHUMP00000020937;SH2 domain-containing phosphatase anchor protein 2;fcR-like protein 3;immune receptor translocation-associated protein 3;immunoglobulin superfamily receptor translocation associated protein 3 APPROVED protein-coding ENSG00000160856 HGNC:18506 07352 606510 REVIEWED 7491161 FCRL6P1 Fc receptor-like 6 pseudogene 1 1 1 1 133010780 133012297 - 159942341 159943858 - 159972551 159974068 - 100419077 ABBA01016617;AL513485;AMYH02002018;NG_027004 pseudo HGNC:49448 INFERRED 1606497 FCRL5 Fc receptor-like 5 This gene encodes a member of the immunoglobulin receptor superfamily and the Fc-receptor like family. This gene and several other Fc receptor-like gene members are clustered on the long arm of chromosome 1. The encoded protein is a single-pass type I membrane protein and contains 8 immunoglobulin-like C2-type domains. This gene is implicated in B cell development and lymphomagenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010] 1 1 1 q21 130554378 130593528 - 157483167 157522310 - 157513377 157552520 - 6480464;8554872 11027651;11290337;11453668;11493702;11929751;12477932;12975309;15489334;15671532;16439682;16681430;16710414;17273841;18704934;18802695;19775371;20237496;20590663;20626413;22028333;22044751;22491254;23616577 83416 Q96RD9 ABBA01016637;AF343662;AF343663;AF343664;AF343665;AF369794;AF397453;AK090423;AK090475;AK300010;AK301356;AL135929;AL353899;AL832301;AL834187;AMYH02001994;AMYH02001995;AY358085;BC101066;BC101067;BC101068;BC101069;BE676280;CH471121;EF064730;NG_027723;NM_001195388;NM_031281 AAI01067;AAI01068;AAI01070;AAK31325;AAK31326;AAK31327;AAK31328;AAK50059;AAK93971;AAQ88452;ABK41913;BAC03404;BAC03456;BAG62901;BAH13192;CAH56486;EAW52884;EAW52885;EAW52886;NP_001182317;NP_112571;Q96RD9 Hs.415950 1796132;5024547 D1S3698;IRTA2_1414 BXMAS1;CD307;CD307e;DKFZp667E2019;DKFZp667F216;FCRH5;FLJ00333;FLJ00397;IRTA2;MGC119590;MGC119592;MGC119593;PRO820;RP11-217A12.1 Fc receptor-like protein 5;OTTHUMP00000018869;fc receptor homolog 5;fcR-like protein 5;immune receptor translocation-associated protein 2;immunoglobulin receptor translocation-associated protein 2;immunoglobulin superfamily receptor translocation associated 2 (IRTA2) APPROVED protein-coding ENSG00000143297 HGNC:18508 16169 605877 REVIEWED 1606206 FCRLA Fc receptor-like A This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 q23.3 134780209 134787589 + 161676762 161684142 + 161706972 161714352 + 6480464 11754007;11891275;12202404;12477932;12966588;12975309;15340161;15489334;15551350;15815692;16710414;17273841;20237496;20668221;21149418;23128233;23742757 84824 Q5VXA5;Q6MZF2;Q7L513 ABBA01047315;AC243424;AF329489;AF329491;AF329493;AF329494;AF329495;AF390036;AF426461;AF531423;AL359541;AY091642;AY358348;BC006521;BM471887;BX112608;BX649184;CH471067;EF064729;NM_001184866;NM_001184867;NM_001184870;NM_001184871;NM_001184872;NM_001184873;NM_032738;XM_006711581 AAH06521;AAL23899;AAL23901;AAL23903;AAL23904;AAL23905;AAL27307;AAL58111;AAM13980;AAM97591;AAQ88714;ABK41912;ABM84200;ABM87604;CAE46202;EAW90683;EAW90684;EAW90685;EAW90686;EAW90687;EAW90688;EAW90689;NP_001171795;NP_001171796;NP_001171799;NP_001171800;NP_001171801;NP_001171802;NP_116127;Q7L513;XP_006711644 Hs.266331 1854439 RH69235 FCRL;FCRL1;FCRLM1;FCRLX;FCRLb;FCRLc1;FCRLc2;FCRLd;FCRLe;FCRX;FREB;MGC4595;RP11-474I16.5 Fc receptor homolog expressed in B cells (FREB);Fc receptor related protein X;Fc receptor-like and mucin-like 1;OTTHUMP00000032485;OTTHUMP00000032486;OTTHUMP00000032487;OTTHUMP00000032488;OTTHUMP00000032489;OTTHUMP00000032490;OTTHUMP00000032491;fc receptor homolog expressed in B-cells;fc receptor-like and mucin-like protein 1;fc receptor-like protein;fc receptor-related protein X APPROVED protein-coding ENSG00000132185 HGNC:18504 606891 REVIEWED 1606397 FCRL6 Fc receptor-like 6 ENCODES a protein that exhibits protein phosphatase binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN external side of plasma membrane; INTERACTS WITH atrazine 1 1 1 q23.2 132840594 132854468 + 159770282 159786047 + 159800492 159816257 + 8554872 14702039;16344560;16710414;17213291;17273841;18991291;20519654;22939635;23898208 343413 F5GYB3;Q6DN72 ABBA01016618;AI631310;AK131201;AK301270;AL590560;AMYH02002018;AY212514;AY513661;AY654627;AY654628;DA959587;NM_001004310;NM_001284217;XM_005245128;XM_005245129;XM_005245131;XM_005245132;XM_006711291;XM_006711292;XM_006711293 AAP47270;AAS82876;AAT66024;AAT66025;BAD18394;BAH13446;CAH71102;CAM14070;CAM14071;CAM14072;NP_001004310;NP_001271146;Q6DN72;XP_005245185;XP_005245186;XP_005245188;XP_005245189;XP_006711354;XP_006711355;XP_006711356 Hs.196955 1766341 SHGC-149682 FLJ16056;FcRH6;IFGP6 Fc receptor-like protein 6;Fc receptor-like protein 7;IgSF type I transmembrane receptor;OTTHUMP00000033326;OTTHUMP00000178959;OTTHUMP00000178960;OTTHUMP00000178961;fc receptor homolog 6;fcR-like protein 6;leukocyte receptor protein-coding ENSG00000181036 HGNC:31910 14177 613562 VALIDATED 1607080 FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) This gene encodes one of three members of a family of low-affinity immunoglobulin gamma Fc receptors found on the surface of many immune response cells. The encoded protein is a transmembrane glycoprotein and may be involved in phagocytosis and clearing of immune complexes. An allelic polymorphism in this gene results in both coding and non-coding variants. [provided by RefSeq, Apr 2012] 1 1 1 q23.3 134746188 134750602 + 161551129 161571010 + 161581339 161601220 + 6480464;6907045;7240710;8699517 12215903;12477932;15342556;16344560;17474147;17785206;17827395;19309690;20228799;20237496;20439936;20508037;20978933;22198951;22623428;23261299;23778324;24353158;2531080;8463268;9516136 9103 P31995;Q8TEX8 AA416937;AB062416;ABBA01005658;AC243971;AF433951;AK307162;AK308168;AL451067;BC137397;BC137423;BP320976;DA851200;DA859515;NG_011982;NM_201563;NR_047648;U90938;U90939;U90940;U90941;X17652 AAC12807;AAC12808;AAC12809;AAC12810;AAI37398;AAI37424;AAN14522;ABM82270;BAB92095;CAA35642;CAA35643;NP_963857;P31995 Hs.656750 2160120;5015833 D1S3418;GDB:190031 CD32;CD32C;CDW32;FCG2;FCRIIC;IGFR2 Fc gamma receptor IIC;IgG Fc receptor II-c;OTTHUMP00000220977;fc-gamma-RIIc;immunoglobulin G Fc receptor II-c;low affinity immunoglobulin gamma Fc region receptor II-c APPROVED protein-coding HGNC:15626 13318 188030;612169 REVIEWED 1605583 FCRLB Fc receptor-like B FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008] 1 1 1 q23.3 134795903 134801378 + 161691598 161697933 + 161721544 161728143 + 6480464;8554872 12477932;14702039;15676285;15815692;16263223;17273841;17975119;19023099;22505724;23593433 127943 Q6BAA4;Q96DP6 ABBA01047315;AC243424;AK055614;AK290733;AL359541;AY670683;AY670684;AY670685;AY670686;AY670687;AY786314;BC038564;BC067080;BQ014014;BX364259;CH471067;DQ021957;EF064728;NM_001002901;NM_001288829;NM_001288830;NM_001288831;NM_001288832 AAH38564;AAT77987;AAT77988;AAT77989;AAT77990;AAT77991;AAX11390;AAY42534;ABK41911;BAB70971;BAF83422;EAW90690;EAW90691;NP_001002901;NP_001275758;NP_001275759;NP_001275760;NP_001275761;Q6BAA4 Hs.517422 1340306 D6S419 FCRL2;FCRLM2;FCRLY;FLJ31052;FREB-2;FcRY;RP11-474I16.6 Fc receptor homolog expressed in B-cells protein 2;Fc receptor like 2;Fc receptor-like and mucin-like 2;OTTHUMP00000158810;OTTHUMP00000158811;OTTHUMP00000158812;OTTHUMP00000158813;OTTHUMP00000158814;fc receptor homolog expressed in B cells protein 2;fc receptor-like and mucin-like protein 2;fc receptor-like protein 2;fc receptor-related protein Y APPROVED protein-coding ENSG00000162746 HGNC:26431 08093 609251 VALIDATED 4145239 FDPSP10 farnesyl diphosphate synthase pseudogene 10 15 15 15 q15.2 20203115 20204271 - 43432291 43433465 - 43140093 43141267 - 100190987 ABBA01038353;AC068724;AMYH02030298;NG_008745 pseudo HGNC:39087 INFERRED 1353265 FDCSP follicular dendritic cell secreted protein This gene encodes a small secreted protein that is expressed in follicular dendritic cells. This protein specifically binds to activated B cells, and functions as a regulator of antibody responses. It is also thought to contribute to tumor metastases by promoting cancer cell migration and invasion. [provided by RefSeq, Dec 2011] 4 4 4 q13 68449575 68458729 + 71091788 71100969 + 70226071 70235252 + 6480464 12193705;12477932;12975309;15489334;16259954;17207965;17548624;20811673 260436 Q540F3;Q8NFU4 ABBA01022925;AC105347;AF086120;AF435080;AMYH02009413;AY190326;AY358958;BC062213;CH471057;CS488923;NM_152997 AAH62213;AAN01116;AAO41714;AAQ89317;ADQ32002;CAM55997;EAX05613;NP_694542;Q8NFU4 Hs.733448 C4orf7;FDC-SP;MGC71894 FDC secreted protein;OTTHUMP00000159759;follicular dendritic cell secreted peptide APPROVED protein-coding ENSG00000181617 HGNC:19215 06255 607241 REVIEWED 1350506 FDPSP3 farnesyl diphosphate synthase pseudogene 3 14 14 14 q22.2 35401016 35402453 - 55351525 55352962 - 54884807 54886244 - 2613235 2227 ABBA01018198;AL160471;AMYH02029224;NG_005795;NG_008647 2120102 G35399 FDPSL3;FPSL3 APPROVED pseudo HGNC:3634 INFERRED 1606652 FDPSP1 farnesyl diphosphate synthase pseudogene 1 1 1 1 q31 160640936 160642062 + 187532159 187533307 + 187563027 187564175 + 2613235 343332 ABBA01027697;AL357559;AMYH02002323;NG_005667 CHR39A;FDPSL1;FPSL1 APPROVED pseudo HGNC:3632 INFERRED 1347692 FDPSP4 farnesyl diphosphate synthase pseudogene 4 15 15 15 q15.2 20002272 20003381 - 43231451 43232602 - 42939253 42940404 - 2613235 2228 ABBA01038357;AC090514;AMYH02030293;NG_007445 1677242;1736726;1736748;2126032 A008V23;D15S748;D15S760;RH93131 CHR39B;FDPSL4;FPSL4 APPROVED pseudo HGNC:3635 INFERRED 69022 FDPS farnesyl diphosphate synthase This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008] 1 1 1 q22 128351680 128363599 + 155278539 155290457 + 155308748 155320666 + 1580863;1300048;2316857;6480464;6907045;8554872 16876788 10620343;11160603;11773414;11785983;12020352;12107413;12477932;14702039;15146197;15342556;15713990;16344560;16650801;16684881;16713569;17198737;17368768;17387528;17963374;18029348;18325729;18327899;18494934;18660489;18687167;18781797;19056481;19060904;19471022;19494338;1968462;2018485;20191015;20450493;20877624;21139048;21151198;21196316;21890473;21906983;21963094;21987572;22053931;22278941;22338925;22407328;22505724;22863883;23000965;23234314;23238007;23277274;23847096;23956138;23998921;24250222;24369118;24816145;24927548;25027693;2690933;7584026;8188698;9030588 2224 P14324 ABBA01016711;AK021828;AK022841;AK291084;AL139410;AMYH02001943;BC010004;BE047993;BP370037;CD675633;CH471121;CN346026;D14697;DA610405;J05262;M29863;NM_001135821;NM_001135822;NM_001242824;NM_001242825;NM_002004;XM_005244962;XM_005244963 AAA35820;AAA52423;AAH10004;ABM84397;ABM86869;BAA03523;BAF83773;BAG51125;EAW53075;EAW53076;EAW53077;EAW53078;NP_001129293;NP_001129294;NP_001229753;NP_001229754;NP_001995;P14324;XP_005245019;XP_005245020 Hs.335918 1684122;1684972;1767527;2180657;5015961;5108976 D15S1171;D15S1477;D15S513;RH68206;RH68240;SHGC-2651 FPPS;FPS (2E,6E)-farnesyl diphosphate synthase;FPP synthase;FPP synthetase;OTTHUMP00000015807;OTTHUMP00000015808;dimethylallyltranstransferase;farensyl diphosphate synthase;farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase);farnesyl pyrophosphate synthase;farnesyl pyrophosphate synthetase;farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase;geranyltranstransferase APPROVED protein-coding ENSG00000160752 HGNC:3631 00606 134629 REVIEWED 1312475 FCHSD2 FCH and double SH3 domains 2 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzene 11 11 11 q13.4 69852315 70157746 - 72547788 72853727 - 72836745 73142098 - 6480464;8554872 12477932;12586822;14627983;14980202;15067381;15101818;15489334;16189514;16554811;18654987;19322201;20379614;21988832;22558309;22797925;22902056;23266558;23850713;24816145;9872452;9873 9873 B8ZZW8;C9JM66;E7ENZ2;E9PG19;H0Y6M2;H0YG35;O94868 AB018312;ABBA01017525;ABBA01017526;ABBA01017527;ABBA01017528;ABBA01017529;ABBA01017530;ABBA01017531;AK128381;AK296376;AK297928;AL080236;AL133567;AMYH02025080;AMYH02025081;AMYH02025082;AMYH02025083;AP002381;AP002455;AP004241;BC010394;BC017751;BQ007622;CD358961;CH471076;NM_014824 AAH10394;AAH17751;ADZ15388;BAA34489;BAG59050;BAG60245;CAB63720;EAW74880;EAW74881;NP_055639;O94868 Hs.744959 1338156;1646549;1653629;1659428;1674585;1771375;1773733;1782274;2111031;2123115;2124030;2125759;2177245 A004W08;D11S1273E;D11S1369;D11S4184;G09449;RH12388;RH46086;RH47602;RH66566;SGC35189;SGC38375;SHGC-112106;WI-14005 KIAA0769;NWK;SH3MD3 FCH and double SH3 domains protein 2;OTTHUMP00000203055;OTTHUMP00000203071;OTTHUMP00000203072;OTTHUMP00000203073;OTTHUMP00000237490;SH3 multiple domains 3;SH3 multiple domains protein 3;carom;nervous wreck homolog protein-coding ENSG00000137478 HGNC:29114 13321 VALIDATED 1353374 FDPSP6 farnesyl diphosphate synthase pseudogene 6 21 21 21 q21.1 6931600 6932360 + 21760493 21761253 + 20388181 20388941 + 10830953 54051 ABBA01057153;AMYH02037586;AP001254;AP001678;KF457064;NG_000923 FDPSP APPROVED pseudo HGNC:3637 INFERRED 1345163 FDPSP5 farnesyl diphosphate synthase pseudogene 5 X X X p11.3 48472305 48473786 - 44335217 44336726 - 44475971 44477480 - 2613235 2229 ABBA01046366;AL022163;AMYH02039237;NG_007446 CHR39C;FDPSL5;FPSL5 APPROVED pseudo HGNC:3636 INFERRED 2303432 FDPSP7 farnesyl diphosphate synthase pseudogene 7 7 7 q11.23 76597453 76598627 - 76968136 76969310 - 441261 AC114737;AMYH02016095;NG_009609 FDPSL2B APPROVED pseudo HGNC:33487 INFERRED 1602263 FDPSP2 farnesyl diphosphate synthase pseudogene 2 INTERACTS WITH benzo[a]pyrene 7 q11.23 76597453 76598627 + 6480464 2613235;9847074 392063 AC114737;AMYH01017615;NG_005796 5014051;5015619;5016478;5021872;5022450;5022463;5037552 D10S275;D11S3114;D3S1673;D8S2278;D8S2279;GDB:434012;sY3084 FDPSL2;FDPSL2A;FPSL2 APPROVED pseudo HGNC:3633 INFERRED 1344913 FDX1P2 ferredoxin 1 pseudogene 2 21 21 21 q21.3 12247898 12248872 + 27064483 27065457 + 25692171 25693145 + 10830953;2340092 2216 ABBA01057211;AMYH02037648;AP000225;M34789;NG_001116 1742123;1784466 GDB:191984;SHGC-170146 FDXP2 APPROVED pseudo HGNC:3641 INFERRED 1352788 FDX2 ferredoxin 2 2340092 2143 HGNC:3639 4144923 FDPSP9 farnesyl diphosphate synthase pseudogene 9 15 15 15 q25.1 57173150 57174290 + 80236786 80237974 + 79944444 79945632 + 401822 ABBA01060616;AC015871;AMYH02030878;NG_008747 pseudo HGNC:39086 INFERRED 1604250 FDX1L ferredoxin 1-like This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy. [provided by RefSeq, Sep 2014] 19 19 19 p13.2 10316284 10322080 - 10420887 10427241 - 10310215 10316015 - 6480464;8554872 12477932;14702039;16344560;20547883;20877624;21832049;22101253;23208207;24250222;24281368 112812 Q6P4F2;Q8N8B8 ABBA01029936;ABBA01029937;AC011511;AI289404;AK300568;AMYH02035489;AMYH02035490;AW245043;BC010155;BC063460;DA243025;NG_034259;NM_001031734 AAH63460;BAH13303;NP_001026904;Q6P4F2 Hs.654865 1771906;1778718 RH48407;WI-14289 FDX2;MGC19604;MGC74760 OTTHUMP00000180619;OTTHUMP00000201199;adrenodoxin-like protein, mitochondrial;ferredoxin-1-like protein protein-coding ENSG00000267673 HGNC:30546 14465 614585 REVIEWED 731891 FDFT1 farnesyl-diphosphate farnesyltransferase 1 This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008] 8 8 8 p23.1-p22 10789513 10826122 + 11653467 11696818 + 11795573 11839309 + 1580863;1300048;1626611;2316857;6480464 16440058;16876788 10896663;12477932;14702039;15489334;16169070;16684881;17353931;17483544;17805225;18029348;18350552;18636124;18660489;18676367;19054015;19245693;19470168;19738201;19913121;20031551;20180986;20403997;20554694;20628086;20708005;21139048;21439984;21890473;21906983;21945151;21963094;21987572;22053931;22268729;22505724;22546838;22797925;23000965;23246001;23557589;23752268;23864651;23956138;24324551;24333579;24583282;24690320;24816145;7665618;7685352;7864626;8020937;8294001;8474436 2222 B4DND3;B4DWP0;B7Z9R8;E9PJG4;E9PNJ2;E9PNM1;E9PQ90;E9PS69;E9PSH1;P37268;Q6IAX1 AA679352;ABBA01026877;AC069185;AF051647;AF051660;AI679762;AK057726;AK098682;AK293545;AK296043;AK297868;AK300059;AK300245;AK301617;AK311246;AK311362;AK315993;AK316033;AK316182;AK316351;AK316531;AK316534;AMYH02017441;AMYH02017442;AMYH02017443;BC003573;BC009251;BC029641;BC034440;BE384903;BG752446;BI765996;BT006704;CH471157;CR457033;DC314061;DC387127;DC387479;DC396859;L06070;L06105;NM_001287742;NM_001287743;NM_001287744;NM_001287745;NM_001287747;NM_001287748;NM_001287749;NM_001287750;NM_001287751;NM_001287756;NM_004462;S76822;X69141;XM_006716247 AAA36645;AAA60582;AAB33404;AAH03573;AAH09251;AAH29641;AAP35350;ABM81623;ABM84808;BAG51957;BAG58807;BAG60195;BAG61868;BAG62012;BAG63102;BAH11529;BAH14364;BAH14404;BAH14553;BAH14722;BAH14902;BAH14905;CAA48896;CAG33314;EAW65628;EAW65629;NP_001274671;NP_001274672;NP_001274673;NP_001274674;NP_001274676;NP_001274677;NP_001274678;NP_001274679;NP_001274680;NP_001274685;NP_004453;P37268;XP_006716310 Hs.593928 1645575;1646520;1646522;1671223;1673967;1722441;2124335;2159877;2176247;5096720 A005M25;G20335;G60297;RH79108;SGC38394;SHGC-11994;SHGC-30677;SHGC-56439;STS-X69141;WI-18910 DGPT;ERG9;SQS;SS FPP:FPP farnesyltransferase;OTTHUMP00000116011;OTTHUMP00000229500;OTTHUMP00000229503;OTTHUMP00000229504;OTTHUMP00000229505;OTTHUMP00000229508;OTTHUMP00000229509;farnesyl diphosphate farnesyl transferase 1;presqualene-di-diphosphate synthase;squalene synthase;squalene synthetase APPROVED protein-coding ENSG00000079459 HGNC:3629 01694 184420 VALIDATED 1348201 FDX1P1 ferredoxin 1 pseudogene 1 20 20 20 q11.22 29813090 29813765 - 33061116 33064295 - 34473311 34476490 - 2340092;2969697 2231 ABBA01019192;AL109923;AMYH02036979;M34787;NG_001117;NG_023206 1690268 RH67935 ADXP1;FDXP1 APPROVED pseudo HGNC:3640 INFERRED 1342731 FEB1 febrile convulsions 1 ASSOCIATED WITH Febrile Convulsions, Familial, 1 (inferred) 7240710 8730286 2233 1335415;1337622 D8S279;D8S553 HGNC:3643 121210 4144937 FDPSP8 farnesyl diphosphate synthase pseudogene 8 1 1 1 q32.3 185060551 185061700 - 211833475 211834641 - 211660133 211661299 - 401981 ABBA01048189;AL356310;AMYH02002629;NG_008746;NG_029112 1664142;1676604;2141534;2219986 NEK2__6227;RH68293;RH92597;SHGC-76300 pseudo HGNC:39085 INFERRED 1353249 FEB2 febrile convulsions 2 ASSOCIATED WITH Febrile Convulsions, Familial, 2 (inferred) 7240710 9384604 2234 1340604 D19S177 HGNC:3644 602477 1350811 FEB3 febrile convulsions 3 10514109 27066 HGNC:3645 1347130 FDX1 ferredoxin 1 This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011] 11 11 11 q22 107454082 107489091 + 110300661 110335608 + 110429937 110464884 + 1580863;4145666;2325883;6480464 12709512;18821018 10899784;12477932;12699818;12782149;1429635;15146197;15489334;15927889;17188650;18029348;18519826;1863359;1909889;1917982;19616115;20379614;20547883;20689807;20877624;21636783;22101253;2340092;23435367;24816145;2969697;3229285;3339111;3343244;3872685;6270113;9890963 2230 P10109 AA505582;AB096243;ABBA01039831;AMYH02025567;AP000924;BC010284;BC017063;BQ650029;BT006681;CH471065;CN333249;DB459133;EF444978;J03548;M18003;M23665;M23668;M34785;M34786;M34788;NM_004109 AAA35829;AAA35855;AAA35856;AAA50462;AAA76853;AAA96806;AAH10284;AAH17063;AAP35327;ACA05992;EAW67132;NP_004100;P10109 Hs.744 1339591;1679443;1690268;1742515;1746141;2124645;2142557;2174619;5124360;7185667 A004I10;D11S1300;D4S3130;G64373;GDB:197839;RH28627;RH36031;RH67935;RH69129 ADX;FDX;LOH11CR1D OTTHUMP00000233613;adrenal ferredoxin;adrenodoxin, mitochondrial;ferredoxin-1;hepatoredoxin;mitochondrial adrenodoxin APPROVED protein-coding ENSG00000137714 HGNC:3638 00059 103260 REVIEWED 1342832 FECHP1 ferrochelatase pseudogene 1 3 3 3 p22.3 34856717 34859211 + 34914216 34916710 + 34872724 34875218 + 8034322 2236 ABBA01024887;AC092054;AMYH02006532;NG_001118;X69299 FECHP APPROVED pseudo HGNC:3648 INFERRED 1347424 FEB4 febrile convulsions 4 ASSOCIATED WITH Febrile Convulsions, Familial, 4 (inferred); Usher syndrome, type 2C (inferred) 7240710 10587582 HGNC:3646 604352;605472 1353975 FEM1A fem-1 homolog a (C. elegans) ENCODES a protein that exhibits EP4 subtype prostaglandin E2 receptor binding; ubiquitin-protein transferase activity (ortholog); INVOLVED IN negative regulation of inflammatory response; regulation of ubiquitin-protein transferase activity (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; atrazine 19 19 19 p13.3 4729623 4733477 + 4791728 4795571 + 4791716 4795559 + 6480464;8554872 11441184;11559703;11733146;12477932;16254458;16390781;16424369;18270204;18757445;19322201;19615732;19913121;19948975;20200332;20628086;21145461;21890473;21906983;21963094;22678803;9828124 55527 Q9BSK4 ABBA01056043;AC005523;AJ311359;AK074232;AK126532;AK315554;AL359589;AL365408;AMYH02035302;AY356352;BC004988;CR749732;NM_018708 AAH04988;AAR10439;ABZ92346;BAG37930;CAB94875;CAB96952;CAC85342;CAH18491;NP_061178;Q9BSK4 Hs.515082 1646329;1685097;1734632;1734690;2185911;5113275 D19S635E;D19S690E;RH80153;RH80896;SHGC-63478;SHGC-63479 DKFZp762M136;FEM1-alpha EPRAP;fem-1 homolog a (c.elegans);prostaglandin E receptor 4-associated protein;protein fem-1 homolog A protein-coding HGNC:16934 16888 613538 VALIDATED 734233 FDXR ferredoxin reductase This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012] 17 17 17 q25.1 69451871 69462405 - 72858619 72869156 - 74862497 74873031 - 1580863;2325883;6480464 18821018 11053423;11096094;12137805;12370809;12477932;12782149;12787114;14702039;15489334;16344560;18319262;1863359;19004824;1917982;20877624;21139048;21890473;22101253;2236061;2393675;24321386;24654937;24816145;2748461;2790061;2845396;2969697;8125298 2232 J3KRG8;J3KS64;J3KTA3;J3QKZ8;J3QQW7;J3QQX3;J3QSF9;P22570;Q6GSK2 ABBA01028824;ABBA01028825;AC068874;AC087651;AK094120;AK098648;AK223530;AK293208;AK293210;AK295307;AK298908;AK301779;AK301977;AMYH02033981;BC002960;BC011521;BC018911;BC034763;BC063493;BT006684;CH471099;DA267443;DQ085780;J03826;M58508;M58509;NM_001258012;NM_001258013;NM_001258014;NM_001258015;NM_001258016;NM_004110;NM_024417;NR_047576;XM_006721772;XM_006721773 AAA51668;AAA51669;AAB59497;AAB59498;AAH02960;AAH63493;AAP35330;AAY68215;BAD97250;BAG52818;BAG56748;BAG56750;BAG58287;BAG61016;BAG63236;BAH13598;EAW89205;EAW89206;EAW89207;EAW89208;EAW89209;NP_001244941;NP_001244942;NP_001244943;NP_001244944;NP_001244945;NP_004101;NP_077728;P22570;XP_006721835;XP_006721836 Hs.69745 1673381;1741197;2107093 FDXR__5184;GDB:178571;RH78900 ADXR;AR NADPH:adrenodoxin oxidoreductase, mitochondrial;adrenodoxin reductase;adrenodoxin-NADP(+) reductase;ferredoxin--NADP(+) reductase APPROVED protein-coding ENSG00000161513 HGNC:3642 00060 103270 REVIEWED 1347982 FEM1AP1 fem-1 homolog a (C. elegans) pseudogene 1 21 21 q11.2 15134659 15136650 + 13762338 13764329 + 441957 AC245051;AL050303;NG_021994 1709986 SHGC-82262 FEM1DP APPROVED pseudo HGNC:17219 INFERRED 1316819 FECH ferrochelatase The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010] 18 18 18 q21.3 51928883 51970808 - 55212073 55253969 - 57544841 57586737 - 1598932;1580863;1578396;4145285;4144542;4144806;6480464;6484113;6907045;7240710;8554872;8699517 1184741;16839620;6721832;8601739 10942404;11175906;11375302;11929052;11929053;12063482;12081474;12139757;12477932;12480705;12601550;1376018;14669009;14702039;15046047;15123683;15286165;15489334;15574461;15831704;15850836;16344560;16385445;16819399;16844398;17196862;17261801;1729699;17342744;1755842;17566985;17567154;17597821;17723290;17875605;17875872;17884090;180343;18160121;18758989;18787536;19322201;19615732;19656458;19656459;19657351;19691493;19703464;19767646;19888946;19965627;20337824;20360068;20379614;20850938;20877624;20966079;20972266;21132468;21139048;21145461;21659066;21890473;21906983;22114354;22190034;22268729;22505724;2260980;22712763;23016163;23364466;2340297;23443559;23446439;23600449;24583282;24654937;24680888;24816145;3047929;3940245;7629135;7910885;7983009;8125298;8276824;8481408;8500787;8757534;8889548;8973195;9211198;9585598;9649563;9712849;9740232 2235 B4DSA4;K7EJM8;K7EJX5;K7EKP7;K7ELX4;K7EPN2;P22830;Q7KZA3 ABBA01056131;AC100847;AF495859;AF495860;AI767430;AJ250235;AJ709747;AK092416;AK223190;AK292937;AK299643;AMYH02034790;BC039841;BG772545;BT019958;BT019959;BU734879;BX571744;CH471096;D00726;DA990386;L36178;NG_008175;NM_000140;NM_001012515 AAA64787;AAH39841;AAM18070;AAM18071;AAV38761;AAV38762;BAA00628;BAC03882;BAD96910;BAF85626;BAG61566;CAB65962;CAE11869;EAW63046;EAW63047;NP_000131;NP_001012533;P22830 Hs.365365 1646770;1698000;1707348;1708766;1742395;1857623;2149333;2153316;2159442;2166680;2218532;5014063 D15S1390;D7S2739;FECH__4993;GDB:196608;RH102529;RH17513;RH36328;RH44862;SHGC-79296;SHGC-81615;STS-D00726;WI-20204 EPP;FCE OTTHUMP00000163616;OTTHUMP00000163617;ferrochelatase, mitochondrial;heme synthase;heme synthetase;protoheme ferro-lyase;protoporphyria APPROVED protein-coding HGNC:3647 01509 177000;612386 REVIEWED 5130651 FEM1AP4 fem-1 homolog a (C. elegans) pseudogene 4 13 13 13 q11 308273 311852 + 19238296 19241874 + 18664156 18667734 + 729524 ABBA01068525;AC245149;AL359737;NG_011416 1709986 SHGC-82262 KIAA1785 pseudo HGNC:39832 INFERRED 5130655 FEM1AP2 fem-1 homolog a (C. elegans) pseudogene 2 18 18 18 p11.21 6 1932 - 14391915 14393905 - 14391916 14393906 - 390834 ABBA01074053;AMYH02034358;AP005212;NG_022481 1709986 SHGC-82262 pseudo HGNC:39830 INFERRED 6482955 FENDRR FOXF1 adjacent non-coding developmental regulatory RNA INTERACTS WITH silicon dioxide (ortholog) 16 16 16 q24.1 70808998 70843305 - 86508131 86542466 - 86474525 86508860 - 6480464 14702039;19571010;23034409;23369715;23563609;24381249 400550 ABBA01034301;AC009108;AC125792;AK091834;AK097312;AL833740;AMYH02032607;BQ671983;BX538111;CB049925;HG508428;HG508430;HG508431;HG508432;NR_033925;NR_036444 Hs.448825 1340691;1722851;1731381;1738663;1764151 D16S2784;D16S449;D16S520;G60368;SHGC-147794 DKFZp666B056;DKFZp686B02156;FLJ34515;FLJ39993;FOXF1-AS1;TCONS_00024240;lincFOXF1 APPROVED ncrna ENSG00000268388 HGNC:43894 614975 VALIDATED 5130652 FEM1AP3 fem-1 homolog a (C. elegans) pseudogene 3 6 6 6 q21 113428191 113429928 - 112686909 112688646 - 112365707 112367444 - 643859 ABBA01026077;AL365214;AMYH02014311;NG_022321 pseudo HGNC:39831 INFERRED 1350285 FEOM1 fibrosis of the extraocular muscles, congenital, 1 ASSOCIATED WITH Fibrosis of Extraocular Muscles, Congenital, 3B (inferred) 7240710 8075644 2240 HGNC:3652 135700 1319607 FEM1C fem-1 homolog c (C. elegans) INVOLVED IN protein ubiquitination (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); cobalt dichloride 5 5 5 q22 110805894 110829879 - 114856605 114880591 - 115520908 115544894 - 6480464;8554872 11347906;11733146;12477932;14527725;18757445;19322201;19615732;21139048;21145461;21890473;21906983;21988832 56929 Q96JP0 AB058688;ABBA01069032;AC008628;AC010226;AF391093;AK025265;AK315803;AL050087;AL110246;AL365409;AL365415;AL831817;AMYH02012004;AY249188;BC028369;BC098385;CH471086;NM_020177;W07603;XM_005272035 AAH28369;AAL37627;AAO64429;ABM84509;ABM85720;BAB15096;BAB47414;BAG38144;CAB96953;CAB96957;CAD38531;EAW48963;NP_064562;Q96JP0;XP_005272092 Hs.47367 1689282;1694786;5094957 FEM1C;G43610;RH65256 EUROIMAGE686608;EUROIMAGE783647;FEM1A;KIAA1785 FEM1-gamma;OTTHUMP00000159135;fem-1 homolog c (c.elegans);protein fem-1 homolog C protein-coding ENSG00000145780 HGNC:16933 16384 608767 VALIDATED 2301592 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 11 11 11 q23.1 108897998 108903370 - 111744780 111750181 - 111874056 111881255 - 6480464;8554872 11181995;12477932;14702039;15146197;16344560;22939629 91893 B3KUL3;B4DUU2;E9PK62;Q9BRP7 ABBA01039811;ABBA01039812;AK097483;AK300795;AK311254;AMYH02025574;AMYH02025575;AP001781;AW296845;BC006136;BC127680;CH471065;CN260853;DB064223;DB451877;NG_029081;NM_138378;NR_038364;XM_006718944 AAH06136;AAI27681;BAG53475;BAG62454;EAW67156;NP_612387;Q9BRP7;XP_006719007 Hs.697132 5037552 D8S2279 FLJ58308;hCG_2033039 FDX-ACDB domain-containing protein 1;OTTHUMP00000234197;ferredoxin-fold anticodon-binding domain-containing protein 1;hypothetical protein BC006136 APPROVED protein-coding ENSG00000255561 HGNC:25110 VALIDATED 1354439 FEN1P1 flap structure-specific endonuclease 1 pseudogene 1 1 1 1 p22.2 90041678 90043703 + 91793795 91795813 + 91328238 91330256 + 14562054;7774922 645931 ABBA01045566;AMYH02001461;AY249897;BX323048;NG_005887;NG_034120 1644016;1684568;2154453;2166031 D1S3426;RH11787;RH17908;SGC35814 FENL1 APPROVED pseudo HGNC:3651 INFERRED 1345858 FEOM3 fibrosis of extraocular muscles, congenital, 3 10393037 26176 1340596;1341050 D16S3063;D16S689 HGNC:3654 732679 FEN1 flap structure-specific endonuclease 1 The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008] 11 11 11 q12 58895562 58900122 + 61560109 61564716 + 61792637 61797244 + 737746;1580863;6480464;6484520;6484213;6907045 12119409;17589521;19010819 10460157;10545607;10559261;10635332;11260214;11313979;11430825;11598021;11601988;11948189;11986308;12065902;12171929;12200445;12356323;12411510;12427278;12453426;12477932;12494477;12515398;12554738;12683998;12853968;12856420;12917330;14562054;14657243;14688284;14690413;1477073;15037610;15131255;15146197;15342556;15489334;15504738;15556996;15561706;15576034;15579905;15592449;15616578;15635413;15758026;16133872;16169070;16216273;16326861;16543152;16554811;16582103;16914748;17115032;17176113;17488975;18029348;18097100;18291413;18394896;18417526;18443037;18499658;18541666;18662981;18669164;18692475;18781797;18786645;18995831;19068479;19208620;19218431;19329428;19471022;19525235;19595719;19618370;19674974;19738201;19946888;20019387;20126648;20226869;20444887;20496165;20522537;20551483;20574454;20643645;20729856;20802161;20819778;21044950;21139048;21252943;21345332;21454907;21496641;21829377;21832049;21890473;21900206;21906983;21963094;21987572;22011247;22072618;22139419;22145905;22244820;22505724;22556262;22586102;22592530;22606318;22749529;22751659;22787431;22863883;22918592;22939629;22990118;23000965;23128233;23184144;23277564;23362303;23378610;23382697;23675412;23975198;24126913;24164220;24349332;24440783;24515614;24816145;24958773;25027693;7673186;7774922;7961795;8007985;8131753;8621570;8668533;8876181;9178907;9214649;9305916;9445487;9545252;9705499;9778254 2237 AAB32522;F5H1Y3;I3L3E9;P39748;Q6FHX6 ABBA01003206;AC004770;AF523117;AK301743;AK312761;AMYH02024883;AP002380;BC000323;BM450370;BP244711;BT019524;CH471076;CN290841;CR536562;L37374;NM_004111;U73629;X76771 AAA91331;AAB32522;AAC23394;AAH00323;AAM74238;AAV38331;BAG35627;BAG63206;CAA54166;CAG38799;EAW73972;NP_004102;P39748 Hs.409065 1644016;1648105;1684568;2154453;2166031;2166033 D11S2269E;D11S4603;D1S3426;RH11787;RH17908;SGC35814 FEN-1;MF1;RAD2;hFEN-1 DNase IV;OTTHUMP00000238148;OTTHUMP00000238149;flap endonuclease 1;maturation factor 1;maturation factor-1 APPROVED protein-coding ENSG00000168496 HGNC:3650 02670 600393 REVIEWED 1605483 FER1L6-AS1 FER1L6 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 8 8 8 q24.13 121184425 121241055 - 124996378 125053023 - 123984138 124040782 - 8554872 12477932;14702039 439941 Q8NA97 ABBA01037888;AC090753;AC100871;AK093040;AMYH02018712;BC137357;CH471060;HG501640;KF573666;NR_040044 AAI37358;BAC04029;EAW92055;Q8NA97 Hs.683919 1652179;1731889 D8S54;RH65554 C8orf54;FLJ35721;RP11-245A18.2 APPROVED ncrna ENSG00000181171 HGNC:26652 VALIDATED 1312083 FEM1B fem-1 homolog b (C. elegans) This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in the replication stress-induced checkpoint signaling pathway via interaction with checkpoint kinase 1. [provided by RefSeq, Aug 2013] 15 15 15 q22 45455064 45468563 + 68570141 68583640 + 68277803 68295865 + 1580863;6480464 10542291;10623617;10764728;11559703;12421765;12477932;15601820;17003112;18029348;18187417;18757445;18816836;19295130;19330022;19615732;19855191;19908242;19948975;20200332;21139048;21145461;21890473;22053931;23000965;23377640;24076122;9455477 10116 H3BT12;H3BTV3;Q9UK73 AB007856;ABBA01038785;AC021553;AC107871;AF178632;AF204883;AK098620;AK290167;AL833264;AMYH02030684;BC010122;BC014558;BF112021;CH471082;CR626996;NM_015322;XM_006720370 AAF05314;AAF69303;AAH10122;AAH14558;ABW03902;BAA23692;BAF82856;EAW77818;EAW77819;NP_056137;Q9UK73;XP_006720433 Hs.362733;Hs.592737 1645167;1647321;1660867;1853309;2109301 D15S1093;D15S785;FEM1B_9044;RH44821;WI-19633 DKFZp451E0710;F1A-ALPHA;F1AA;FEM1-beta;FIAA FEM-1-like death receptor binding protein;OTTHUMP00000164386;fem-1-like death receptor-binding protein alpha;fem-1-like in apoptotic pathway protein alpha;protein fem-1 homolog B protein-coding ENSG00000169018 HGNC:3649 16889 613539 REVIEWED 1625099 FER1L6 fer-1-like family member 6 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; cadmium atom; 17alpha-ethynylestradiol (ortholog) 8 8 8 q24.1 121142008 121320410 + 124864227 125132412 + 123851987 124120171 + 6480464;8554872 20200978;20379614;21890473 654463 Q2WGJ9 AB196633;ABBA01037885;ABBA01037886;ABBA01037887;ABBA01037888;ABBA01037889;ABBA01037890;AC011134;AC090753;AC100871;AMYH02018711;AMYH02018712;DV080599;DW010047;KF495817;KF573666;NM_001039112;XM_006716618 BAE53435;NP_001034201;Q2WGJ9;XP_006716681 Hs.632058 1338323;1649799;1652179;1676186;1705840;1731889;1732059;1786536 D8S1804;D8S2064;D8S54;D8S598;RH65554;RH92138;SHGC-106961;SHGC-81177 C8ORFK23 OTTHUMP00000228170;fer-1-like 6;fer-1-like protein 6 APPROVED protein-coding ENSG00000214814 HGNC:28065 VALIDATED 1323462 FERD3L Fer3-like bHLH transcription factor ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN negative regulation of transcription, DNA-templated (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH arsenite(3-); atrazine; mercury atom 7 7 7 p21.1 19164004 19164643 - 19180618 19185044 - 19144782 19145421 - 6480464;8554872 11472856;12217327;12477932;12690205;23251661 222894 Q96RJ6 ABBA01056655;AC003986;AF369897;AF517122;AMYH02015317;BC069147;BC101135;BC101136;BC101137;BC101138;CH236948;CH471073;NM_152898 AAH69147;AAI01136;AAI01137;AAI01138;AAI01139;AAK72956;AAN04086;EAL24278;EAW93712;EAW93713;NP_690862;Q96RJ6 Hs.592168 2220398;5493071 UniSTS:481459;UniSTS:484139 MGC119861;N-TWIST;NATO3;NTWIST;bHLHa31 Fer3-like;OTTHUMP00000116045;basic helix-loop-helix protein N-twist;class A basic helix-loop-helix protein 31;nephew of atonal 3;neuronal twist APPROVED protein-coding ENSG00000146618 HGNC:16660 16890 VALIDATED 7246874 FER1L6-AS2 FER1L6 antisense RNA 2 ASSOCIATED WITH Melanoma (inferred) 8 8 q24.13 125058312 125183763 - 124046071 124171522 - 8554872 12477932;14702039;15489334 157376 Q96M78 ABBA01037888;ABBA01037889;ABBA01037890;ABBA01037891;AC090921;AC100871;AI425048;AK057332;AMYH02018712;BC101502;BC101506;CH471060;HG501642;NR_103547 BAB71431;EAW92056;EAW92057 Hs.662360 1649799;1676186;1705840 D8S2064;RH92138;SHGC-81177 C8orf78;RP11-959I15.3 ncrna ENSG00000253868 HGNC:26534 08138 PREDICTED 1350956 FER1L4 fer-1-like family member 4, pseudogene (functional) FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; hydrogen peroxide; benzo[a]pyrene (ortholog) 20 20 20 q11.22 30894820 30943779 - 34146507 34195818 - 35558737 35607896 - 6480464 10192385;12477932;14702039;15066638;15146197;16344560;17512949;20686565;24063685;24097068;24961353;9175703 80307 A9Z1Z3 ABBA01019154;ABBA01019155;ABBA01019156;ABBA01019157;AF218012;AF218030;AI219207;AI440245;AI741534;AK023521;AK026266;AL109827;AL121586;AL833764;AMYH02037001;AMYH02037002;AMYH02037003;AMYH02037004;AMYH02037005;AY461812;BC029951;BX648024;CH471077;CN290811;DA854396;DA859834;DR731183;FO393401;NR_119376;XR_425236;XR_430316;XR_433611 A9Z1Z3;AAS19932;BAB14597;CAB89410;CAI20117;EAW76196 Hs.72222 1714873;1750513;1801058;1802474;1802588;1802656;1803632;1804046;1804424;1804668;1804816;1804858;1804992;1808296;1812342;1817268;1820186;1821374;1822070;1822150;1823234;1823994;1824068;1825496;1825724;1829514;1829928;1830728;1836798;1974664;1974666;1974668;1974670;1974672;1974674;1974676;1974678;1974680;1974682;1974684;1974686;1974688;1974690;1974692;1974694;1974696;1974698;1974700;1974702;1974704;1974706;1974708;1974710;1974712;1974714;1974716;1974718;1974720;1974722;1974724;1974726;1974728;1974730;1974732;1974734;1974736;1974738;1974740;1974742;1974744;1974746;1974748;1974750;1974752;1974754;1974756;1974758;1974760;1974762;1974764;1974766;1974768;1974770;1974772;1974774;1974776;1974778;1974780;1974782;1974784;1974786;1974788;1974790;1974792;1974794;1974796;1974798;1974800;1974802;1974804;1974806;1974808;1974810;1974812;1974814;1974816;1974818;1974820;1974822;1974824;1974826;1974828;1974830;1974832;1974834;1974836;1974838;1974840;1974842;1974844;1974846;1974848;1974850;1974852;1974854;1974856;1974858;1974860;1974862;1974864;1974866;1974868;1974870;1974872;1974874;1974876;1974878;1974880;1974882;1974884;1974886;1974888;1974890;1974892;1974894;1974896;1974898;1974900;1974902;1974904;1974906;1974908;1974910;1974912;1974914;1974916;1974918;1974920;1974922;1974924;1974926;1974928;1974930;1974932;1974934;1974936;1974938;1974940;1974942;1974944;1974946;1974948;1974950;1974952;1974954;1974956;1974958;1974960;1974962;1974964;1974966;1974968;1974970;1974972;1974974;1974976;1974978;1974980;1974982;1974984;1974986;1974988;1974990;1974992;1974994;1974996;1974998;1975000;1975002;1975004;1975006;1975008;1975010;1975012;1975014;1975016;1975018;1975020;1975022;1975024;1975026;1975028;1975030;1975032;1975034;1975036;1975038;1975040;1975042;1975044;1975046;1975048;1975050;1975052;1975054;1975056;1975058;1975060;1975062;1975064;1975066;1975068;1975070;1975072;2215426;2215428;2215430;2215432;2215434;2215436;2215438;2215440;2215442;2215444;2215446;2215448;2215450;2215456;2215458;2215460;2215462;2215464;2215466;2215468;2215470;2215472;2215474;2215476;2215478;2215480 ECD01397;ECD02123;ECD02181;ECD02215;ECD02722;ECD02940;ECD03136;ECD03266;ECD03341;ECD03364;ECD03436;ECD05129;ECD07178;ECD09684;ECD11167;ECD11771;ECD12121;ECD12161;ECD12706;ECD13093;ECD13130;ECD13856;ECD13970;ECD15888;ECD16097;ECD16500;ECD19563;REN58218;REN58219;REN58220;REN58221;REN58222;REN58223;REN58224;REN58225;REN58226;REN58227;REN58228;REN58229;REN58230;REN58231;REN58232;REN58233;REN58234;REN58235;REN58236;REN58237;REN58238;REN58239;REN58240;REN58241;REN58242;REN58243;REN58244;REN58245;REN58246;REN58247;REN58248;REN58249;REN58250;REN58251;REN58252;REN58253;REN58254;REN58255;REN58256;REN58257;REN58258;REN58259;REN58260;REN58261;REN58262;REN58263;REN58264;REN58265;REN58266;REN58267;REN58268;REN58269;REN58270;REN58271;REN58272;REN58273;REN58274;REN58275;REN58276;REN58277;REN58278;REN58279;REN58280;REN58281;REN58282;REN58283;REN58284;REN58285;REN58286;REN58287;REN58288;REN58289;REN58290;REN58291;REN58292;REN58293;REN58294;REN58295;REN58296;REN58297;REN58298;REN58299;REN58300;REN58301;REN58302;REN58303;REN58304;REN58305;REN58306;REN58307;REN58308;REN58309;REN58310;REN58311;REN58312;REN58313;REN58314;REN58315;REN58316;REN58317;REN58318;REN58319;REN58320;REN58321;REN58322;REN58323;REN58324;REN58325;REN58326;REN58327;REN58328;REN58329;REN58330;REN58331;REN58332;REN58333;REN58334;REN58335;REN58336;REN58337;REN58338;REN58339;REN58340;REN58341;REN58342;REN58343;REN58344;REN58345;REN58346;REN58347;REN58348;REN58349;REN58350;REN58351;REN58352;REN58353;REN58354;REN58355;REN58356;REN58357;REN58358;REN58359;REN58360;REN58361;REN58362;REN58363;REN58364;REN58365;REN58366;REN58367;REN58368;REN58369;REN58370;REN58371;REN58372;REN58373;REN58374;REN58375;REN58376;REN58377;REN58378;REN58379;REN58380;REN58381;REN58382;REN58383;REN58384;REN58385;REN58386;REN58387;REN58388;REN58389;REN58390;REN58391;REN58392;REN58393;REN58394;REN58395;REN58396;REN58397;REN58398;REN58399;REN58400;REN58401;REN58402;REN58403;REN58404;REN58405;REN58406;REN58407;REN58408;REN58409;REN58410;REN58411;REN58412;REN58413;REN58414;REN58415;REN58416;REN58417;REN58418;REN58419;REN58420;REN58421;REN58422;RH120431;SHGC-111820;stSG636704;stSG636705;stSG636707;stSG636708;stSG636709;stSG636710;stSG636711;stSG636712;stSG636713;stSG636715;stSG636716;stSG636717;stSG636718;stSG636721;stSG636722;stSG636723;stSG636724;stSG636725;stSG636726;stSG636727;stSG636729;stSG636730;stSG636731;stSG636732;stSG636733;stSG636734 C20orf124;DKFZp686F01207;FLJ13459;FLJ22613;bA563A22B.1;dJ309K20.1 APPROVED pseudo ENSG00000088340 HGNC:15801 VALIDATED 1625097 FER1L5 fer-1-like family member 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); indole-3-methanol (ortholog); mono(2-ethylhexyl) phthalate (ortholog) 2 2 2 q11.2 91749797 91811871 + 97308574 97370624 + 96642765 96704887 + 6480464;8554872 11181995;12477932;21926972 90342 A0AVI2 ABBA01036584;ABBA01036585;ABBA01036586;ABBA01036587;ABBA01123827;ABBA01224008;AC068539;AC079754;AK126032;AL133022;AMYH02004335;AY461813;BC117324;BC126368;BC143825;CH471207;DB083434;DW009988;NM_001113382;NM_001293083;XM_006712826 A0AVI2;AAI17325;AAI26369;AAI43826;AAS19933;BAC86403;EAW71345;EAW71346;NP_001106853;NP_001280012;XP_006712889 Hs.534025 1700774;5019070;5022651 D11S2921;G44334;RH104012 fer-1-like 5;fer-1-like protein 5 APPROVED protein-coding ENSG00000249715 HGNC:19044 VALIDATED 1348659 FETUB fetuin B The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. [provided by RefSeq, Jul 2008] 3 3 3 q27 184794517 184807165 + 186353758 186370797 + 186640360 186653008 + 68778;1580863;6480464;8554872 10947975 12477932;1284814;12943536;15280384;15489334;15499407;16335952;16797392;22703881;22739111;23314748;8889549 26998 B7Z8T3;C9JC68;E9PG08;F8WAW1;F8WEP7;Q9UGM5 AB017551;ABBA01058385;AC068631;AF534529;AJ242928;AK303859;AK309647;AK315309;AMYH02008346;AMYH02008347;AMYH02008348;AX061638;AY373820;AY373821;BC069670;BC069820;BC074734;BC114616;BX115543;CH471052;NM_014375;XM_005247350;XM_005247351 AAH69670;AAH69820;AAH74734;AAI14617;AAQ10515;AAR22507;AAR22508;BAA78341;BAG37713;BAH14069;CAB62538;CAC24999;EAW78185;EAW78186;NP_055190;Q9UGM5;XP_005247407;XP_005247408 Hs.81073 1687125;1797526;1847036;1849041;2134531;5122635 FETUB_1912;RH11607;RH99138;SHGC-33193;SHGC-34439;STS-R98821 16G2;Gugu;IRL685 OTTHUMP00000210120;OTTHUMP00000210121;OTTHUMP00000210124;fetuin-B;fetuin-like protein IRL685 APPROVED protein-coding ENSG00000090512 HGNC:3658 09335 605954 REVIEWED 1605153 FERP1 fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene 1 X X X q25 123122943 123123735 + 122736990 122737782 + 123603139 123603931 + 553112 ABBA01036351;AL030996;AMYH02040400;NG_005390;NG_021468 FERP;FERps APPROVED pseudo HGNC:26443 INFERRED 1602673 FERMT3 fermitin family member 3 Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010] 11 11 11 q13.1 61300902 61318205 + 63974152 63991363 + 64206680 64223891 + 6480464;7240710;7349373;8554872;8699517 23860236 12477932;12697302;12789646;12886250;14702039;15231747;15489334;18280249;18779414;19064721;19234460;19234461;19234463;19240021;19617577;19647987;19738201;19854292;19946888;20216991;20357244;20378539;21044950;21536861;21784300;21832049;21871525;21890473;21911599;22134107;22139635;22334666;22505724;22564402;22623428;22983444;23012377;23022222;23144497;23437269;23595985;23823319;24010654;24469992;24523237;24583125;24615351;24816145;25015289 83706 F5H1C6;F5H3I6;H0YFT5;Q86UX7 ABBA01003288;ABBA01003289;AK093719;AL560215;AMYH02024931;AP005668;AY093951;AY093952;BC004347;BC013366;BC015584;BG491422;CH471076;L25343;NG_016360;NM_031471;NM_178443;XM_006718703;XM_006718704;XM_006718705 AAH04347;AAH13366;AAH15584;AAM19736;AAM19737;BAC04220;EAW74199;EAW74200;NP_113659;NP_848537;Q86UX7;XP_006718766;XP_006718767;XP_006718768 Hs.180535 2138103;2153127;2185863 G33073;RH41986;WI-16915 KIND3;MGC10966;MIG-2;MIG2B;UNC112C;URP2;URP2SF MIG2-like protein;OTTHUMP00000236869;OTTHUMP00000236870;UNC-112 related protein 2;fermitin family homolog 3;kindlin 3;unc-112-related protein 2 APPROVED protein-coding ENSG00000149781 HGNC:23151 07440 607901;612840 REVIEWED 1314798 FER fer (fps/fes related) tyrosine kinase Fer protein is a member of the FPS/FES family of nontransmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. [provided by RefSeq, Jul 2008] 5 5 5 q21 104021685 104463167 + 108083523 108523373 + 108747548 109187672 + 1580863;6480464;6484113;8554872 10411641;10878010;10921917;10998246;11006284;11994747;12118379;12477932;12640114;12738762;12871378;12972546;14517306;15226396;15324660;16273093;1651563;1663488;16732323;17192257;18029348;18271526;18985748;19147545;19339212;19738202;19835603;1990274;19913121;20628086;20881960;21122136;21518868;2156206;21700879;21890473;21906983;2209086;22223638;22238358;22939624;23445469;23699534;23873028;23906537;23931849;25036637;2685575;2725517;3350007;3472906;7623846;8247543;9722593;9742093;9742951;9748248 2241 B4DDX7;D6RAF9;P16591;Q05DA5;W0S0X4 AB636592;AB636593;AB636594;AB636595;ABBA01069093;ABBA01069094;ABBA01069095;ABBA01069096;ABBA01069097;ABBA01069098;ABBA01069099;ABBA01069100;AC008871;AC008955;AC010228;AC011421;AC034207;AC109481;AC116428;AK293376;AK296874;AK299855;AK315234;AMYH02011941;AMYH02011942;AMYH02011943;AMYH02011944;AMYH02011945;AMYH02011946;BC017060;BC058030;CH471086;J03358;JQ412173;KF457961;KF457967;NG_011445;NM_005246;XM_005271923;XM_006714572;XM_006714573;XR_427709 AAA61190;AAH17060;AAH58030;AAI41560;AEY69041;BAG37661;BAG56888;BAG59436;BAG61714;BAO24701;BAO24702;BAO24703;BAO24704;EAW49054;EAW49055;EAW49056;NP_005237;P16591;XP_005271980;XP_006714635;XP_006714636 Hs.221472 1668545;1686352;1706816;1785236;1854144;1854937;2113816;2116767;2121491;2141690;2150772 D5S1763;GJA1;HSC2MH092;RH27497;RH66216;RH68965;RH71338;SHGC-101669;SHGC-31298;SHGC-80885;WI-6988 FerT;PPP1R74;Pe1Fe10;Pe1Fe13;Pe1Fe3;Pe1Fe6;TYK3 OTTHUMP00000158945;feline encephalitis virus-related kinase FER;fujinami poultry sarcoma/Feline sarcoma-related protein Fer;p94-Fer;phosphoprotein NCP94;protein phosphatase 1, regulatory subunit 74;proto-oncogene c-Fer;truncated fer (fps/fes related) tyrosine kinase;tyrosine kinase 3;tyrosine-protein kinase Fer APPROVED protein-coding ENSG00000151422 HGNC:3655 01491 176942 REVIEWED 1351543 FEV FEV (ETS oncogene family) This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain that binds purine-rich DNA sequences. The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor. This gene is exclusively expressed in neurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. [provided by RefSeq, Jul 2008] 2 2 2 q36 213615522 213620092 - 219845809 219850379 - 218981087 218985657 - 1580863;6480464 10949935;12477932;12761502;15003288;15758173;17597646;18391951;19707175;19874574;20048018;20468064;20480378;20546612;22542470;23591790;24100022;24816145;9121764 54738 Q99581 ABBA01023853;AC097468;AMYH02005811;BC023511;CH471063;NG_023323;NM_017521;Y08976 AAH23511;AAX88917;ABM84328;ABM87783;CAA70169;EAW70664;NP_059991;Q99581 Hs.234759 2190849 ETV2 PET-1 FEV (fifth Ewing variant);HSRNAFEV;OTTHUMP00000164098;PC12 ETS domain-containing transcription factor 1;PC12 ETS factor 1;fifth Ewing variant protein APPROVED protein-coding ENSG00000163497 HGNC:18562 06193 607150 REVIEWED 1319652 FES FES proto-oncogene, tyrosine kinase This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009] 15 15 15 q26.1 67836636 67847969 + 91427665 91439006 + 90884435 90895776 + 1580863;6480464;6484113;8554872 10706130;10856136;11071635;11160325;11339827;11509660;11604131;11700021;11994747;12093729;12477932;12543931;12653561;12871378;1373879;15003822;15099290;15302586;15485904;15489334;15630569;15713745;15869325;15929003;16273093;16344560;16455651;16792528;17353931;17521372;17595334;18029348;18046454;1862005;1870997;18775312;19001085;19051325;19060904;19082481;19382747;19464057;19865112;19885553;19913121;19953087;20030920;20117079;20628086;21044950;2179816;21890473;21900206;21909110;21909115;22505724;22939624;23404507;2426571;2656706;3488499;3947550;4065096;6183005;6264598;6323103;7518439;7523858;7529874;7687763;7691175;7700650;8007965;8108116;8449035;8631962;8663427;8916957;8955135;8999909;9222609;9714332;9754447 2242 C9J3W6;E7EMJ7;E7ENM8;E9PGC7;E9PIJ7;H0YNN8;H0YNT6;P07332 ABBA01053070;AC124248;AK300595;AK300605;AK309530;AK312545;AMYH02031054;AY513654;AY513655;AY513656;AY513657;BC035357;CH471101;DA782386;DB264752;DQ048387;M14209;M14589;NG_029671;NM_001143783;NM_001143784;NM_001143785;NM_002005;X06292;X52192;XM_005254877;XM_005254880;XM_005254881;XM_005254882;XR_243205;XR_243206 AAA52441;AAA53105;AAH35357;AAS82866;AAS82867;AAS82868;AAS82869;ABM82276;ABM85456;BAG35443;BAG62292;BAG62301;CAA29619;CAA36438;EAX02113;EAX02114;EAX02115;EAX02116;NP_001137255;NP_001137256;NP_001137257;NP_001996;P07332;XP_005254934;XP_005254937;XP_005254938;XP_005254939 Hs.7636 1677770;1712318;1741319;2109303;2116475;2176748;2217342 FES_8346;FURIN_659;G54068;GDB:180414;RH1636;RH93529;STS-X52192 FPS OTTHUMP00000194752;OTTHUMP00000195202;OTTHUMP00000195203;OTTHUMP00000233982;OTTHUMP00000233984;Oncogene FES, feline sarcoma virus;c-fes/fps protein;feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog;feline sarcoma oncogene;feline sarcoma/Fujinami avian sarcoma oncogene homolog;p93c-fes;proto-oncogene c-Fes;proto-oncogene c-Fps;proto-oncogene tyrosine-protein kinase Fes/Fps;tyrosine-protein kinase Fes/Fps APPROVED protein-coding ENSG00000182511 HGNC:3657 01814 190030 REVIEWED 6770016 FEZF1-AS1 FEZF1 antisense RNA 1 7 7 7 q31.32 116748034 116754453 + 121943712 121950131 + 122303658 122310077 + 14702039 154860 ABBA01057748;AC015983;AK057037;AMYH02016672;CH236947;CH471070;HG500547;NR_036484 EAW83569;EAW83570 Hs.664204 RP11-560I19.4 APPROVED ncrna ENSG00000230316 HGNC:41001 VALIDATED 1323441 FERMT2 fermitin family member 2 ENCODES a protein that exhibits phosphatidylinositol-3,4,5-trisphosphate binding; INVOLVED IN cell-matrix adhesion; integrin activation; integrin-mediated signaling pathway; PARTICIPATES IN integrin mediated signaling pathway; FOUND IN cytoplasm; extrinsic component of cytoplasmic side of plasma membrane; focal adhesion; INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-fluorouracil; all-trans-retinoic acid 14 14 14 q22.1 33373704 33467553 - 53323989 53417856 - 52857271 52951097 - 6480464;7349373 23860236 12477932;12508121;12679033;12697302;12789646;14702039;14745725;15489334;17081983;18029348;18458155;18528435;18781797;19854292;20127858;20702409;20861856;21139048;21325030;21356350;21624607;21636915;21832049;21890473;21922223;22030399;22056622;22078565;22391155;22648415;22699938;22863883;22939629;23000965;23151599;23209705;23211537;23337877;23383273;23483548;23508013;23535732;23667531;23723426;23857544;24162737;24599960;24816145;25027693;8175911 10979 G3V281;G3V379;G3V3J0;G3V5R2;H0YJ34;H0YJB6;Q96AC1 ABBA01018176;ABBA01018177;ABBA01018178;AF443279;AK126426;AK291738;AL139317;AL352979;AMYH02029197;AMYH02029198;AMYH02029199;AMYH02029200;AMYH02029201;AMYH02029202;BC011125;BC017327;BX161467;CH471061;CR749486;EU979385;NM_001134999;NM_001135000;NM_006832;XM_005267285;XM_006720008;XM_006720009;XM_006720010;Z24725 AAH17327;AAN75823;ACE86749;ACE87435;ACH73257;BAF84427;CAA80852;CAD61925;EAW80618;EAW80619;EAW80620;NP_001128471;NP_001128472;NP_006823;Q96AC1;XP_005267342;XP_006720071;XP_006720072;XP_006720073 Hs.509343 1336101;1797154;2135433;2138448;2159324;2162136;5014051;5021872;5037552;5109283 D14S589;D1S1431;D8S2278;D8S2279;G35911;G36139;MIG2_(5);RH15723;RH47352;sY3084 DKFZp686G11125;FLJ34213;FLJ44462;KIND2;MIG2;PLEKHC1;UNC112;UNC112B;mig-2 OTTHUMP00000179004;OTTHUMP00000179005;OTTHUMP00000245253;OTTHUMP00000245254;OTTHUMP00000245256;PH domain-containing family C member 1;fermitin family homolog 2;kindlin 2;kindlin-2;mitogen inducible gene 2 protein;mitogen-inducible gene 2 protein;pleckstrin homology domain containing, family C (with FERM domain) member 1;pleckstrin homology domain containing, family C member 1;pleckstrin homology domain-containing family C member 1 APPROVED protein-coding ENSG00000073712 HGNC:15767 06374 607746 VALIDATED 1604689 FEZF1 FEZ family zinc finger 1 ENCODES a protein that exhibits metal ion binding (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding (inferred); INVOLVED IN axon guidance (inferred); forebrain anterior/posterior pattern specification (inferred); negative regulation of cell proliferation (inferred); ASSOCIATED WITH Anosmia (inferred); Cryptorchidism (inferred); Decreased testicular size (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 7 7 7 q31.32 116745770 116748887 - 121941373 121951173 - 122301319 122311119 - 6480464;8699517 12477932;16999686;19318583;19401682;21170990 389549 A0PJY2;C9J0C5 ABBA01057748;ABBA01057749;AC015983;AK300742;AMYH02016672;AY726588;BC127714;BC127715;BC136684;BC144367;CB104829;CH236947;CH471070;DC386457;NM_001024613;NM_001160264;XM_005250337 A0PJY2;AAI27715;AAI27716;AAI36685;AAI44368;BAG62411;EAL24342;EAW83568;NP_001019784;NP_001153736;XP_005250394 Hs.553970 5095090 Fezf1 FEZ;HH22;ZNF312B OTTHUMP00000211450;OTTHUMP00000211451;fez family zinc finger protein 1;zinc finger protein 312-like;zinc finger protein 312B protein-coding ENSG00000128610 HGNC:22788 18614 613301;616030 VALIDATED 1315645 FERMT1 fermitin family member 1 This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009] 20 20 20 p12.3 6126766 6175354 - 6055492 6104191 - 6074845 6123544 - 1600405;6480464;7349373;8554872;8699517 12668616;23860236 12477932;12697302;12789646;14634021;14702039;14962093;15927810;16051467;16675959;17012746;17178989;17460733;17916195;17989907;18528435;18652585;18835760;19200189;19240021;19292718;19762710;19762715;19804783;19854292;19945623;20028441;20306291;21146372;21220475;21309038;21336475;21356350;21832234;21936020;22220914;23209705;23267142;23278235;23440354;23549420;23776470;23804033;24165133;8125298;9472028 55612 G3V1L6;Q49AC8;Q54A15;Q5JWV4;Q9BQL6 AB105105;ABBA01053898;ABBA01053899;ABBA01053900;AF443278;AK000123;AK000747;AK025365;AK027076;AK092195;AK225216;AK314394;AL118505;AMYH02036656;AY137240;BC035882;BC040545;BX647465;CH471133;NG_016213;NM_017671 AAH35882;AAH40545;AAM94174;AAN75822;BAA90957;BAA91358;BAC03826;BAD12269;BAG37018;EAX10392;EAX10393;EAX10394;EAX10395;NP_060141;Q9BQL6 Hs.472054 1660210;1677917;5491481 MARC_15247-15248:1012578424:3;RH99293;SHGC-56771 C20orf42;DTGCU2;FLJ20116;FLJ23423;KIND1;UNC112A;URP1 OTTHUMP00000030222;UNC112 related protein 1;chromosome 20 open reading frame 42;fermitin family homolog 1;kindlerin;kindlin 1;kindlin syndrome protein;unc-112-related protein 1 APPROVED protein-coding ENSG00000101311 HGNC:15889 06388 607900 REVIEWED 1346685 FEZF2 FEZ family zinc finger 2 ENCODES a protein that exhibits metal ion binding (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding (inferred); INVOLVED IN axon guidance (inferred); axonal fasciculation (inferred); cerebral cortex GABAergic interneuron migration (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); trichostatin A 3 3 3 p14.2 62372439 62376282 - 62355347 62359190 - 62369672 62373515 - 1580863;6480464 11025224;12477932;14702039;16344560;18976975;20570630;21471212;23677067;23826257;8889548;9921901 55079 Q8TBJ5 ABBA01024329;AC092502;AF064845;AF332890;AK001004;AK290464;AMYH02006930;BC022464;BM930804;CH471055;DA492936;DR002892;H28929;NM_018008 AAG50287;AAH22464;BAA91464;BAF83153;EAW65403;EAW65404;NP_060478;Q8TBJ5 Hs.241523 1850619;2110087;2191139 GDB:1318551;MARC_15281-15282:1013612096:1;ZNF312_9872 FEZ;FEZL;FKSG36;FLJ10142;TOF;ZFP312;ZNF312 OTTHUMP00000213299;OTTHUMP00000213300;OTTHUMP00000213301;fez family zinc finger protein 2;forebrain embryonic zinc finger-like protein 2;zinc finger protein 312;zinc finger protein Fez-like protein-coding ENSG00000153266 HGNC:13506 07596 607414 VALIDATED 735511 FEZ2 fasciculation and elongation protein zeta 2 (zygin II) This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq, Jul 2008] 2 2 2 p21 36620493 36666401 - 36779397 36825333 - 36552258 36598190 - 1580863;6480464 10642437;10931946;12477932;14690447;14697253;15815621;16484223;20201926;20379614;21139048;21408165;21963094;21988832;8228263;9096408 9637 F8W6C0;F8WB37;G3V0F5;H7C0L4;H7C0W1;H7C434;Q7Z674;Q9UHY8 AB076184;AB209719;ABBA01074965;ABBA01074966;AC007401;AF113124;AF168681;AK025274;AL117593;AMYH02003606;BC018032;BC037566;BC047020;BC054043;BC064484;BC089390;BC110386;BX537785;CH471053;L17328;NM_001042548;NM_005102;U60061;U69140;XM_006712153;XR_244972 AAB02341;AAB40661;AAC51283;AAF14865;AAH18032;AAH54043;AAH64484;AAH89390;AAI10387;AAY14650;BAD06207;BAD92956;CAD97842;EAX00420;EAX00421;EAX00422;EAX00423;EAX00424;EAX00425;NP_001036013;NP_005093;Q9UHY8;XP_006712216 Hs.258563 1657068;1847107;1850894;2155574 D2S2595;RH11555;STS-AA035390;WI-17612 HUM3CL;MGC117372 OTTHUMP00000201286;OTTHUMP00000201287;OTTHUMP00000201289;OTTHUMP00000201293;fasciculation and elongation protein zeta-2;pre-T/NK cell associated protein (3Cl);zygin 2;zygin II;zygin-2 APPROVED protein-coding ENSG00000171055 HGNC:3660 09213 604826 REVIEWED 1317919 FFAR4 free fatty acid receptor 4 This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 10 10 10 q23.33 89067548 89088491 + 95326422 95349829 + 93566665 93590072 + 1302390;6480464;7240710;8554872 14623098 12477932;12679517;15164054;15619630;16341674;16344560;19460454;19723586;20471368;20677014;20813258;21868624;21878437;22282525;22343897;23594480;23849180;23851494;23993698;24239485;24412271;24412488;24742677;24860101 338557 B4DWG6;Q5NUL3;S4R3L2 AB115768;ABBA01021866;AI469384;AI732606;AK301525;AL356214;AMYH02023559;AY255573;AY288417;BC101175;BM757151;BX647721;CH471066;DA986310;NG_032670;NM_001195755;NM_181745 AAI01176;AAO85085;AAP72126;BAD83368;BAG63028;EAW50069;EAW50070;NP_001182684;NP_859529;Q5NUL3 Hs.661022 2166692;5015881;5022578;5037552;5109281 D1S1423;D1S1425;D8S2279;GDB:335751;RH48297 BMIQ10;DKFZp686F0824;GPR120;GPR129;GT01;MGC119984;O3FAR1;PGR4 G protein-coupled receptor 120;G protein-coupled receptor 129;G protein-coupled receptor PGR4;G-protein coupled receptor 120;G-protein coupled receptor 129;G-protein coupled receptor GT01;G-protein coupled receptor PGR4;G-protein-coupled receptor GT01;OTTHUMP00000032309;OTTHUMP00000032310;omega-3 fatty acid receptor 1 APPROVED protein-coding ENSG00000186188 HGNC:19061 16422 607514;609044 REVIEWED 732377 FEZ1 fasciculation and elongation protein zeta 1 (zygin I) This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 122475971 122526454 - 125315641 125366206 - 125445745 125496310 - 704404;1580863;6480464;7240710;8554872 11856312;12477932;12874605;14690447;15146197;15383276;15466860;15489334;15522253;15843383;16169070;16344560;16484223;17200414;17374448;18029348;18439996;18470533;18583979;18615714;19251251;19367581;19632097;19667186;19924516;20084519;20195357;20730382;20812761;21408165;21900206;22017218;22099459;22451907;22688191;22832604;23894747;24098481;24116125;8889548;9096408;9971736 9638 E9PNH2;J3KTR6;Q99689 ABBA01031244;AK296554;AMYH02025733;AMYH02025734;AMYH02025735;AP000708;BC009545;BM663785;CH471065;CN310685;CR456817;CR541954;DA697171;KF455562;NM_005103;NM_022549;U60060;U60062;U69139;XM_005271734;XM_005271735 AAB40660;AAC51282;AAC51284;AAH09545;ABM81889;ABM85061;BAG59177;CAG33098;CAG46752;EAW67636;EAW67637;EAW67638;EAW67639;NP_005094;NP_072043;Q99689;XP_005271791;XP_005271792 Hs.224008;Hs.732083 1654467;1656704;1694818;1739379;1740827;1849172;5015861;7185938 D10S16;D11S3963E;D11S4449;G43640;RH70489;SHGC-32309;SHGC-33748 OTTHUMP00000231425;OTTHUMP00000231427;OTTHUMP00000231429;fasciculation and elongation protein zeta-1;protein kinase c-binding protein zeta1;zygin I;zygin-1 APPROVED protein-coding ENSG00000149557 HGNC:3659 09212 133239;604825 REVIEWED 1322276 FFAR3 free fatty acid receptor 3 ENCODES a protein that exhibits G-protein coupled receptor activity; INVOLVED IN adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway; cellular response to fatty acid; G-protein coupled receptor signaling pathway; FOUND IN plasma membrane; INTERACTS WITH amiodarone; hydralazine; valproic acid 19 19 19 q13.1 32562940 32564843 + 35849249 35851391 + 35358586 35360489 + 1580863;6480464 12477932;12496283;12711604;14722361;15489334;15684720;16754659;16887331;18801738;19460454;19574715;19630535;1985119;21220428;22493486;22712802;22884094;23066016;24325907;8496602;9344866 2865 O14843 ABBA01018740;ABBA01018741;ABBA01018742;ABBA01018743;AC002511;AF024688;AK290710;AMYH02035983;BC035657;BC113695;BC148269;EU432115;NM_005304;U62631 AAB86711;AAH35657;AAI13696;AAI48270;ABM82161;ABM85345;ABY87914;BAF83399;NP_005295;O14843 Hs.248055 1797630 GPR42_2019 FFA3R;GPR41 G protein-coupled receptor 41;G-protein coupled receptor 41 protein-coding ENSG00000185897 HGNC:4499 04823 603821 VALIDATED 1347517 FFAR2 free fatty acid receptor 2 This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009] 19 19 19 q13.1 32654111 32656163 + 35939185 35942669 + 35449715 35451767 + 1580863;6480464 12393494;12477932;12496283;12684041;12711604;15057824;15489334;15684720;16887331;17899402;18499755;18801738;18812643;18818303;18827341;19009545;19047536;19460454;19780758;20837008;20979106;21037097;21216233;21220428;21988832;22712802;22919070;23066016;23985900;9344866 2867 C6KYL4;O15552 AB378083;ABBA01018745;AC002511;AF024690;AMYH02035984;AX810701;BC095535;BC096198;BC096199;BC096200;BC096201;CA309917;CK819813;CS173025;EU432114;NM_005306 AAB67886;AAB86713;AAH95535;AAH96198;AAH96199;AAH96200;AAH96201;ABY87913;BAH86809;CAJ33694;NP_005297;O15552 Hs.248056 5037552;5493037 D8S2279;UniSTS:483907 FFA2R;GPR43 G protein-coupled receptor 43;G-protein coupled receptor 43;free fatty acid activated receptor 2 APPROVED protein-coding ENSG00000126262 HGNC:4501 04824 603823 REVIEWED 737209 FGA fibrinogen alpha chain The protein encoded by this gene is the alpha component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in two isoforms which vary in the carboxy-terminus. [provided by RefSeq, Jul 2008] 4 4 4 q28 152835246 152842862 - 155504280 155511897 - 154583128 154590745 - 1582445;704404;1601166;1601167;2312416;5688758;6480464;5688756;5688769;5688762;5688767;5688770;5688761;6484113;6907045;7175292;7240710;8554872;8699517 10910940;12358944;15795544;17951283;19683480;19954227;21685370;21887273;22014850;22353194;7974333;8097946 10074346;10391209;10467729;10602365;10605720;10891444;10903502;10913112;10954706;10956659;10963790;11054085;11159525;11170397;11435303;11460491;11460506;11529842;11546832;11562340;11583334;11739173;11776317;11833854;11858505;11900554;11914657;12009908;12050338;12117709;12119191;12193970;12356313;12406899;12430881;12477932;12617173;12665801;12706644;12707238;12729597;12871600;12878203;1391954;1457396;14615374;14667819;14718574;14746139;14751930;15166913;15174051;15203218;15217804;15311936;15346842;1560020;15637140;15735812;15739255;15795540;15795809;15831156;15865460;1587268;15968394;16005629;16086292;16144795;16210568;16263253;16324093;16335952;1634621;16362348;16466010;16468976;16525568;16581250;16614319;16698114;16706972;16712791;1675636;16807684;1680863;16881935;16894470;16928957;16939214;16940416;17241179;17263791;17264959;17275949;17295221;17303222;17408411;17408725;17414213;17433418;17565234;17568659;17591786;17596138;17630702;17643375;17650077;17688324;17701467;17849064;17849175;17982313;17994314;18057060;18202324;18208536;18227259;18278190;18294856;18331453;18500534;18676163;18690352;18772067;18842294;18848323;18974842;19056867;1912564;19136375;19143925;19190816;19193866;19350124;19412134;19420105;19429776;19468208;19471022;19507189;19515723;19572064;19631771;19696023;19698251;19718467;19729601;19750100;19899640;19913121;19923982;19928926;19948975;19967163;20019599;20031577;20051841;20059469;20128871;20167083;20217997;20218626;20237496;20360068;20416077;20533267;20628086;20677013;2070049;20709368;20806111;20829681;2102623;21063468;21190511;21190668;21192254;21224475;21245743;21248064;21258858;2133223;2133234;21459789;21464904;21502573;21694469;21757653;21800001;21806028;21891970;21932842;21980494;22342352;22397628;22407772;22489912;22552295;22639050;22642105;22705885;22713578;22795623;22819533;22836683;23020230;23056168;23061815;23224113;23238100;23303819;23314748;23551149;23612884;23639427;2367530;23725126;23750785;23852822;23877568;23894515;23958299;23969696;24040290;24048413;24192574;24337577;24627488;24821635;2738154;2742826;2877981;3088041;3345340;3590111;3618591;4052020;4084461;4250289;5084810;518845;518846;5645286;6165239;6266066;6281794;6318767;632262;6383194;6500566;6575389;6575700;6688355;6689067;6719396;6777381;7298640;7356959;8100742;8140431;8384496;8400261;8461606;8473507;8589203;8636415;8639778;8675656;8910396;8939956;8944230;9182580;9276466;9333233;936108;9389696;9485375;9628725;9689040;9867861 2243 P02671;Q6NSD8 AB087996;ABBA01070158;AC107385;AF361104;AK290559;AL531808;AL579998;AMYH02010333;BC020764;BC070246;BC098280;BC099706;BC099720;BC101935;BC105803;BG565064;BQ064506;BX494953;CB122305;CD608675;CH471056;J00127;J00128;JB978078;K02272;M26878;M58569;M64982;NG_008832;NM_000508;NM_021871;S82092 AAA17055;AAA17056;AAA52426;AAA52427;AAA52428;AAA52444;AAB47117;AAC97142;AAC97143;AAH20764;AAH70246;AAH98280;AAH99706;AAH99720;AAI01936;AAI05804;AAK31372;AAK31373;BAC55116;BAF83248;CDL78900;EAX04924;EAX04925;EAX04926;EAX04927;EAX04928;NP_000499;NP_068657;P02671 Hs.351593 1646737;1651404;1660662;1667808;1741979;1742913;1743807;1770908;1773635;2136025;2142891;2153942;2170600;2178782;2189767;2217328;5117983;5125489 D4S2882;D4S3155;D4S3286;FGA;FGA_3978;G33492;GDB:187393;GDB:215015;GDB:374018;GDB:633003;RH18276;SHGC-32984;SHGC-34795;SHGC-50337;SHGC-59324;SHGC-59770;STS-H58121;STS-H72060 Fib2;MGC119422;MGC119423;MGC119425 OTTHUMP00000197063;OTTHUMP00000197064;fibrinogen, A alpha polypeptide;fibrinogen, alpha polypeptide APPROVED protein-coding ENSG00000171560 HGNC:3661 00619 105200;134820;202400;616004 REVIEWED 736481 FFAR1 free fatty acid receptor 1 This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009] 19 19 19 q13.1 32555895 32556817 + 35841645 35844764 + 35351542 35352464 + 1580863;2315761;2316010;6480464 19208915;19758793 12477932;12496284;12565875;12629551;15489334;15606695;15684720;15695516;15736105;16289108;16525841;17200419;17525159;17699519;17987108;18191887;18583466;18827341;18927207;18947221;19009545;19047536;19068482;19401434;19460454;19913121;20227312;20628086;21552566;21570468;22106100;22493486;22712802;23023155;23378609;23861168;24035997;25043059;9344866 2864 O14842;Q0IJ71 ABBA01018740;AF024687;AMYH02035983;AX675043;BC039436;BC095536;BC120943;BC120944;EF611308;NM_005303;U62631 AAB86710;AAH95536;AAI20944;AAI20945;ABQ96386;CAD83804;NP_005294;O14842 Hs.248127 FFA1R;GPCR40;GPR40 G protein-coupled receptor 40;G-protein coupled receptor 40 APPROVED protein-coding HGNC:4498 04822 603820 REVIEWED 1351228 FGD1 FYVE, RhoGEF and PH domain containing 1 This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of faciogenital dysplasia and X-linked mental retardation, syndromatic 16.[provided by RefSeq, Mar 2011] X X X p11.21 58304448 58355160 - 54471887 54522599 - 54445454 54496166 - 1580863;6480464;7240710;8554872;8699517 10906777;10930571;11093277;11181572;11756498;11940089;12134158;12376548;12477932;12673651;12787561;12913069;14560308;15327482;15489334;15743413;16688726;17152066;17564959;17847065;18029348;19110080;19141649;19261807;19322201;20082460;20607856;21212517;21356349;21739585;22854039;22876573;23169394;23211637;23443263;24446295;7954831;8268928;8969170;8994827;9268645 2245 P98174 ABBA01069620;ABBA01069621;ABBA01069622;ABBA01069623;ABBA01069624;ABBA01069625;ABBA01069626;ABBA01069627;ABBA01069628;ABBA01069629;ABBA01069630;AK226117;AK299635;AMYH02039489;BC034530;CH471154;NG_008054;NM_004463;U11690;Z85987 AAA57004;AAH34530;BAG61561;EAW93179;EAW93180;EAW93181;NP_004454;P98174 Hs.709201 1337572;1643612;1661803;1677030;1681668;1702526;1739795;2108093;2183592 DXS1044;DXS7573E;FGD1;FGD1_8347;G35013;RH75708;RH98842;SGC30464;SHGC-24021 AAS;FGDY;MRXS16;ZFYVE3 FYVE, RhoGEF and PH domain-containing protein 1;OTTHUMP00000023372;faciogenital dysplasia 1 protein;rho/Rac GEF;rho/Rac guanine nucleotide exchange factor FGD1;zinc finger FYVE domain-containing protein 3 APPROVED protein-coding ENSG00000102302 HGNC:3663 02373 300546;305400 REVIEWED 734251 FGB fibrinogen beta chain The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] 4 4 4 q28 152815112 152824894 + 155484132 155493915 + 154562980 154572763 + 1580381;1580382;1580383;1580384;1580385;737709;1331525;1580863;2312416;5688760;6480464;5688770;5688769;6484113;6907045;7175292;7175505;7175506;7240710;8699517 11054085;12393540;15118671;17469143;18278190;19352213;19954227;21685370;22014850;7974333;8565160;9241743;9437197;9514419 10074346;10391209;10467729;10605720;10666208;10766195;10903502;10980194;11027931;11293402;11296154;11460506;11460528;11468164;11546832;11588042;11714857;11728146;11798781;11833854;11836675;11858186;11877019;11940334;12048138;12082590;12082592;12122980;12141403;12151156;12161363;12356313;12406024;12477932;12511408;12514663;12518110;12578626;12615788;12616980;12617173;12624729;12637691;12665801;12706644;12710752;12716802;12747593;12871600;12878203;12893758;12899665;14618197;14629463;14629469;14652632;14669221;14691567;14706682;14718574;14746139;14963283;15076187;15091001;15104216;15170397;15192836;15213870;15217804;15300640;15346842;15489334;15575509;15583729;15608011;15631828;156564;1565641;15671034;15709716;15723073;15735811;15735812;15737987;15739255;15793786;15795538;15795540;15842357;15857159;15939070;15968394;15983960;16005629;16049588;16080811;16086292;16144795;16157382;16195396;16215953;16263699;16324093;16335952;1634610;16353042;16409729;16420563;16443328;16466010;16489740;16502470;16525568;16525569;16567932;16581250;16601848;16604498;16611940;16614319;16635210;16697386;16706972;16750002;16767673;16776623;1680863;16899909;16928957;16938111;16940416;16953282;17003923;17111197;17115186;17116333;17126309;17160939;17230042;17263791;17264952;17414213;17497226;17582472;17591786;17637253;17643375;17688324;17849064;17925485;17951283;17994314;18000621;18029348;18057060;18173921;18188987;18202324;18253477;18284606;18331453;18334738;18434720;18503143;18511872;18513389;18683729;18685811;18726528;18772067;18803625;18818200;18836720;18841297;18842294;18848323;18853456;18927546;18930220;18936436;18974842;18977990;18982866;19056482;19072566;19131662;19136375;19143925;19190816;19193866;19227305;19229055;19238444;19264644;19272152;19332210;19395327;19404555;19409601;19420105;19420351;19431272;19479237;19508823;19559392;19560472;19578796;19593947;19682239;19750100;19811441;19860767;19892918;19899640;19906129;19913121;19923980;19948975;19954614;19956635;19996109;20031576;20031577;20036902;20051843;20059469;20064497;20075509;20078877;20079495;20082208;20128871;20135074;20162731;20167083;2018836;20237496;20360068;20376805;20425806;20452482;20533267;20535834;20536507;20538554;20619835;20628086;20637145;20673868;20709368;20873219;20978265;2102623;21034162;21054877;21098282;21122273;21160146;21241403;21258858;21296900;21316837;21420681;21499712;21713329;21725578;21757653;21800007;21900206;21988832;22053176;22273812;22293628;22386478;22489912;22552295;22575419;22642105;22836683;22889670;23056168;23061815;23129316;23144326;2322576;23238100;23650004;23750785;23852822;23877568;23931975;23958299;23969696;24040290;24337577;24466284;25015289;25204086;2572363;2742826;3029722;3156856;3194892;420779;5084810;6165239;6281794;6383194;6575389;6575689;6575700;6688356;6777381;7356959;7583541;7592883;7642629;8100742;8148485;8384496;8666148;8889549;8910396;891553;8979138;9028318;9182580;9224210;9333233;9351824;936108;9628725;9787167 2244 D6REL8;F8W6P4;P02675;V9HVY1 ABBA01070157;AC107385;AF388026;AI174804;AK303788;AK309592;AK311683;AK312972;AMYH02010333;BC007030;BC036007;BC060040;BC070245;BC106760;BC107766;CH471056;EU668333;J00129;J00130;J00131;J00132;J00133;JB978082;M64983;NG_008833;NM_001184741;NM_005141;T74412;X05018 AAA18024;AAA52429;AAA98115;AAA98116;AAH07030;AAI06761;AAI07767;AAK62470;ACF94486;BAG35810;BAG64745;CAA28674;CDL78902;EAX04930;EAX04931;EAX04932;EAX04933;EAX04934;EAX04935;EAX04936;EAX04937;EAX04938;EAX04939;NP_001171670;NP_005132;P02675 Hs.300774 1658482;1672236;1694998;1712140;1743809;1743811;1745739;1853739;1853741;1855422;2120988;2139940;2148766;2156161;2181066 A005L26;D4S2883;G20311;G33709;G44712;G54120;GDB:374037;GDB:374038;GDB:633014;RH11045;RH36633;SHGC-33093;SHGC-59327;SHGC-59513;SHGC-67362 HEL-S-78p;MGC104327;MGC120405 OTTHUMP00000197066;epididymis secretory sperm binding protein Li 78p;fibrinogen, B beta polypeptide;fibrinogen, beta polypeptide APPROVED protein-coding HGNC:3662 00620 134830;202400;616004 REVIEWED 1323332 FGD3 FYVE, RhoGEF and PH domain containing 3 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); small GTPase binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); cytoskeleton organization (ortholog); filopodium assembly (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); Golgi apparatus (ortholog); lamellipodium (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; bisphenol A; calcitriol 9 9 9 66151416 66240262 + 95709601 95798518 + 92947319 93036236 + 6480464;8554872 10721717;11214971;11756498;12376548;12477932;12787561;14702039;15164053;15489334;16344560;17564959;18363964;20379614;8125298 89846 A8K9G1;B4DXH4;Q5JSP0 ABBA01018599;ABBA01018600;AK000004;AK225843;AK292676;AK301974;AL389924;AL451065;AMYH02021227;AMYH02021228;AMYH02021229;AMYH02021230;AMYH02021231;AY211386;BC032429;BC111054;BF509875;BF510761;BX647829;CH471089;DA493667;DB161711;NM_001083536;NM_001286993;NM_033086;XR_242605 AAH32429;AAI11055;AAP20645;ACE86816;ACE87503;BAA92229;BAF85365;BAG63386;EAW62840;EAW62841;EAW62842;EAW62843;EAW62844;EAW62845;EAW62846;EAW62847;NP_001077005;NP_001273922;NP_149077;Q5JSP0 Hs.411081 1728759;1728771;1728883;1776908 G54479;G54540;G54541;STS-R80896 FLJ00004;MGC117260;ZFYVE5 FGD1 family, member 3;FYVE, RhoGEF and PH domain-containing protein 3;OTTHUMP00000022784;OTTHUMP00000022785;faciogenital dysplasia 3;zinc finger FYVE domain-containing protein 5 protein-coding ENSG00000127084 HGNC:16027 10957 VALIDATED 1320399 FGD2 FYVE, RhoGEF and PH domain containing 2 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); small GTPase binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); cytoskeleton organization (ortholog); filopodium assembly (ortholog); ASSOCIATED WITH Glucocorticoid Deficiency 2 (inferred); Melanoma (inferred); FOUND IN cytoplasm (ortholog); Golgi apparatus (ortholog); lamellipodium (ortholog); INTERACTS WITH all-trans-retinoic acid; 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 6 6 6 p21.2 38528396 38551886 + 36973423 36996845 + 37005647 37029069 + 1580863;6480464;7240710;8554872 10458911;11214971;11756498;12376548;12477932;12787561;14574404;14702039;15489334;16196087;17564959;18838382 221472 F8WEZ2;H7BY95;Q7Z6J4 ABBA01038269;ABBA01038270;AK024456;AK092732;AK097230;AK097981;AK098248;AK131079;AK290419;AK300964;AK301156;AL160264;AMYH02013560;AMYH02013561;BC023645;BC053655;BC062363;BX648164;CH471081;NM_173558;XM_005248911;XM_005248912;XM_005248913;XM_005248914;XM_006715016 AAH23645;AAH53655;ABM84538;ABM85854;BAB15746;BAC04982;BAC85129;BAF83108;BAG62589;BAG62746;EAX03932;EAX03933;NP_775829;Q7Z6J4;XP_005248968;XP_005248969;XP_005248970;XP_005248971;XP_006715079 Hs.509664 1731369;5020948;5022651;5109281;7184802 D11S2921;D18S21;D1S1425;G35510 FLJ00048;FLJ40929;MGC71330;ZFYVE4 FGD1 family, member 2;FLJ00276 protein;FYVE, RhoGEF and PH domain-containing protein 2;OTTHUMP00000016320;zinc finger FYVE domain-containing protein 4 protein-coding ENSG00000146192 HGNC:3664 05478 605091;607398 VALIDATED 732078 FGD4 FYVE, RhoGEF and PH domain containing 4 This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. [provided by RefSeq, Oct 2008] 12 12 12 p11.21 12475281 12619210 + 32552518 32798984 + 32399634 32646050 + 1580863;6480464;7240710;8554872;8699517 11429692;11527409;11756498;12376548;12477932;12787561;14702039;15133042;15744041;17564959;17564972;18029348;19221294;19332693;19494521;20301532;20301641;20379614;22295116;22589722;22734899;22843789;23926620;9668039 121512 B7Z493;E9PJX4;E9PNX0;E9PQT1;F8VVF1;F8VWL3;F8W1R0;H0YDQ0;J3KSS3;Q96M96 ABBA01031709;ABBA01031710;ABBA01031711;ABBA01031712;AC084824;AC087245;AC090440;AC090677;AK057294;AK091689;AK124654;AK297025;AK303334;AL713762;AL832064;AMYH02026301;AMYH02026302;AMYH02026303;AMYH02026304;AY367054;BC039708;BC045552;BC063403;BC096746;CH471116;DB446722;NG_008626;NM_139241;XM_005253304;XM_005253305;XM_005253306;XM_005253307;XM_005253308;XM_005253309;XM_005253310;XM_006719030 AAH45552;AAQ72372;BAB71413;BAH12479;BAH13945;CAD28532;EAW88528;EAW88529;EAW88530;NP_640334;Q96M96;XP_005253361;XP_005253362;XP_005253363;XP_005253364;XP_005253365;XP_005253366;XP_005253367;XP_006719093 Hs.117835 1335567;1338078;1340523;1657394;1724341;1733606;1757257;1769151;2147955;2218534;5015961;5022578 D12S1648;D12S1661;D12S345;D12S933;D15S1477;D1S1423;FGD4__4996;RH119093;RH44585;RH44796;SGC34888;SHGC-144676 CMT4H;DKFZp313E1818;DKFZp434K1572;FLJ34370;FLJ42663;FRABP;MGC57222;ZFYVE6 FGD1 family, member 4;FGD1-related F-actin-binding protein;FYVE, RhoGEF and PH domain-containing protein 4;OTTHUMP00000174413;OTTHUMP00000174414;OTTHUMP00000233837;OTTHUMP00000233838;OTTHUMP00000241155;OTTHUMP00000241157;actin filament-binding protein frabin;actin-filament binding protein frabin;zinc finger FYVE domain-containing protein 6 APPROVED protein-coding ENSG00000139132 HGNC:19125 16891 609311;611104 REVIEWED 1313708 FGD5 FYVE, RhoGEF and PH domain containing 5 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); small GTPase binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); cytoskeleton organization (ortholog); filopodium assembly (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); Golgi apparatus (ortholog); lamellipodium (ortholog); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; amiodarone 3 3 3 p25.1 14798707 14914334 + 14852247 14976072 + 14810740 14934565 + 6480464;8554872 10737800;12477932;14702039;15489334;20467438;22328776;22661514;22922960;23455924 152273 B7ZM68;H7C0G2;Q6ZNL6 ABBA01025150;ABBA01025151;AC087591;AC090937;AK096856;AK097276;AK123054;AK131078;AMYH02006324;AMYH02006325;AMYH02006326;AMYH02006327;BC035364;BC040614;BC132814;BC132816;BC144300;BX538312;BX640820;CH471055;KF495759;NM_152536;XM_005264900;XM_005264901 AAH35364;AAI32815;AAI32817;AAI44301;ADZ15427;BAC04878;BAC04989;BAC85128;BAG53865;CAD98090;CAE45896;EAW64208;EAW64209;NP_689749;Q6ZNL6;XP_005264957;XP_005264958 Hs.412406 1657584;1683545;1708880;1715183;2160158;2169485 D3S2881E;D3S3380;G19158;RH119842;RH24948;SHGC-83942 ZFYVE23 FYVE, RhoGEF and PH domain-containing protein 5;OTTHUMP00000208226;zinc finger FYVE domain-containing protein 23 protein-coding ENSG00000154783 HGNC:19117 13322 614788 VALIDATED 5687428 FGD5-AS1 FGD5 antisense RNA 1 3 3 14984286 14989948 - 14942779 14948441 - 12477932;14702039;16344560 100505641 ABBA01025147;ABBA01025148;ABBA01025149;AC090937;AK055924;AK096279;AMYH02006327;BC008609;BC014104;BC033386;BC039246;BC042881;BC056913;BC063441;BC092452;DA123583;DA836235;DA993974;NR_046251;NR_046252;NR_046253;NR_046254;NR_046255 Hs.517821 1735116;1735250;2150205;5109281 D1S1425;D3S2789E;D3S2913E;SHGC-76736 FLJ31362;FLJ38960 APPROVED ncrna ENSG00000225733 HGNC:40410 VALIDATED 7047808 FGD5P1 FYVE, RhoGEF and PH domain containing 5 pseudogene 1 3 3 3 p25.1 13912861 13916749 + 13974553 13978444 + 13933056 13936944 + 14702039 100132526 ABBA01025163;AC069462;AC090884;AK056482;AMYH02006316;NR_036481 Hs.637770 pseudo ENSG00000275340 HGNC:44498 VALIDATED 1319292 FGD6 FYVE, RhoGEF and PH domain containing 6 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); small GTPase binding (ortholog); INVOLVED IN actin cytoskeleton organization (ortholog); cytoskeleton organization (ortholog); filopodium assembly (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); Golgi apparatus (ortholog); lamellipodium (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 12 12 12 q22 95141807 95282177 - 95470525 95611240 - 95076749 95217464 - 6480464;8554872 10718198;12477932;14702039;15324660;15489334;15761153;18187620;21139048;21706016;23402259;23648065 55785 F8VQX5;F8VWT6;F8VY01;H0YI21;Q6ZV73 AB037783;ABBA01053340;ABBA01053341;ABBA01053342;ABBA01053343;ABBA01053344;AC011598;AC126615;AC127165;AK002045;AK026881;AK124904;AK128492;AMYH02026968;AMYH02026969;AMYH02026970;BC013319;BC125225;BC125226;BX538322;CH471054;NM_018351;XM_005269024 AAH13319;AAI25226;AAI25227;AAI67803;BAA92052;BAA92600;BAC85990;BAC87464;CAD98096;EAW97521;NP_060821;Q6ZV73;XP_005269081 Hs.506381 1337753;1676816;1684722;1713629;1782874;2150042 D11S1285;D12S101;RH120695;RH93687;RH93936;SHGC-152105 ZFYVE24 FYVE, RhoGEF and PH domain-containing protein 6;OTTHUMP00000243028;OTTHUMP00000243031;OTTHUMP00000243033;zinc finger FYVE domain-containing protein 24 protein-coding ENSG00000180263 HGNC:21740 16892 613520 VALIDATED 735698 FGF1 fibroblast growth factor 1 (acidic) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009] 5 5 5 q31 138053068 138158948 - 141971743 142077635 - 142592178 142698070 - 1580863;2290286;2290287;2290291;2290288;2298518;2298516;5509875;5509876;5509878;5509881;2317692;5509877;5509879;5509880;6480464;6484113;6907045;8655569 11908679;14613644;16139411;16635575;16720444;17242701;17893707;18482974;19497570;20079650;20488178;21663406;7690426;8662542;8685603 10206481;10336501;10373120;10510314;10574949;10579907;10618369;10736564;10830168;10903182;11030354;11032250;11069186;11245213;11294897;11432880;11509569;11731227;11847269;11964394;12008951;12057924;12118009;12145206;12417591;12440521;12477932;12484774;12746488;12750963;12788899;12815063;12871334;1372643;14627732;14673954;14732692;15199049;15314170;15358178;15382229;15489334;15561939;15632285;15695515;15835896;15870071;15882952;16091423;16219767;16263090;16316338;16344560;16355415;16392031;16411766;16495214;16597617;16766579;16807244;16886895;1693186;1697263;1702556;17133345;17134911;1717925;17204151;1720622;17538174;17567994;17570396;17610236;17852407;17909102;17963255;18187602;18202770;18298822;18308335;18400376;18441324;18495870;18505824;18669637;18762812;18819464;1885605;19112917;19229075;19247306;19249349;19453261;19574212;19683004;19835837;19845895;19923735;20027339;20036812;20072657;20189986;20298684;20424473;20452482;20504870;20634891;20672350;20673868;20706664;20863990;20889570;21048031;21139048;21190667;21239704;21348951;21356388;21448824;21462296;21555518;21806346;21894939;21963769;21990352;22057274;22321063;23047594;23133616;23143756;23426545;23457216;23469107;23557133;23912956;2393407;23990967;2427112;24304385;2444975;2474753;2590193;3523756;3527167;3732516;3778488;3964259;7504343;7521397;7533902;7542239;7678925;7680120;7681435;8576175;8622701;8652550;8663044;8679713;8950275;8976296;9139660;9501919;9630568;9655399;9712836;9719643;9806903 2246 A8K147;B5MCF4;C9JDC5;C9JUP6;P05230;Q16089 ABBA01026368;ABBA01026369;ABBA01026370;ABBA01026371;ABBA01026372;ABBA01026373;AC005370;AC005592;AI283639;AK289762;AK312301;AMYH02012370;AMYH02012371;AY601819;BC032697;BG706412;CH471062;CQ848834;CQ855983;DA111414;DA126618;DA189432;DA228737;DA326831;DA388578;DA389088;DA575048;DA649213;DA660034;DB092576;DB220987;DC344309;DQ655917;KC877132;KC877136;L01485;L01487;M13361;M23087;M30492;M60515;M60516;M74028;NM_000800;NM_001144892;NM_001144934;NM_001144935;NM_001257205;NM_001257206;NM_001257207;NM_001257208;NM_001257209;NM_001257210;NM_001257211;NM_001257212;NM_033136;NM_033137;S67291;S67292;S67294;X51943;X59065;X65778;X65779;XM_005268390;XM_006714762 AAA51672;AAA51673;AAA52425;AAA52446;AAA52447;AAA52638;AAA79245;AAB29057;AAB29058;AAB29059;AAH32697;AAS99352;BAF82451;BAG35227;CAA36206;CAA41788;CAA46661;CAA46662;CAH18501;CAH23443;EAW61881;EAW61882;EAW61884;EAW61885;NP_000791;NP_001138364;NP_001138406;NP_001138407;NP_001244134;NP_001244135;NP_001244136;NP_001244137;NP_001244138;NP_001244139;NP_001244140;NP_001244141;NP_149127;NP_149128;P05230;XP_005268447;XP_006714825 Hs.483635 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2204200;2204202;2204204;2204206;2204208;2204210;2204212;2204214;2204216;2204218;2204220;2204222;2204224;2204226;2204228;2204230;2204232;2204234;2204236;2204238;2204240;2204242;2204244;2204246;2204248;2204250;2204252;2204254;2204256;2204258;2204260;2204262;2204264;2204266;2204268;2204270;2204272;2204274;2204276;5092698;5117064;5119863 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AFGF;ECGF;ECGF-beta;ECGFB;FGF-1;FGF-alpha;FGFA;GLIO703;HBGF-1;HBGF1 ECGFA;OTTHUMP00000066027;OTTHUMP00000066028;OTTHUMP00000066030;OTTHUMP00000066031;OTTHUMP00000174675;OTTHUMP00000199418;OTTHUMP00000199419;acidic fibroblast growth factor;beta-endothelial cell growth factor;endothelial cell growth factor;endothelial cell growth factor, alpha;endothelial cell growth factor, beta;fibroblast growth factor 1;heparin-binding growth factor 1 APPROVED protein-coding ENSG00000113578 HGNC:3665 00567 131220 REVIEWED 734330 FGF10 fibroblast growth factor 10 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008] 5 5 5 p13-p12 44197375 44281044 - 44305004 44389808 - 44304902 44389706 - 1580863;737805;737804;737803;2314151;2292665;6480464;6907045;7240710;8554872;8699517 10984614;11702954;18421211;19464577;9916808 10541313;10579907;10629055;10951499;11286634;11294897;11896977;11923311;12477932;12591959;12804770;12818887;14726452;14975937;15199049;15208658;15489334;15632068;15654336;15679583;15690149;15806171;16086254;16323074;16501574;16597614;16597617;16630169;17071719;17133345;17188682;17213838;17264867;17360555;17449030;17471512;17496316;17500053;17609292;17682060;17944804;17959718;17969154;18081024;18329286;18437684;18454440;18587586;18594526;18773495;18990706;19102732;19115389;19152659;19224135;19727229;19915940;20036575;20083228;20424473;20544801;20634891;20705941;21048031;21310815;21696361;21742743;21743467;22303449;22877940;22965740;23169889;23328208;23599340;23774963;23949743;24002438;24004862;24265547;24320134;24865969;8622701;9287324;9582367;9740653;9927546 2255 D6RG33;O15520 AB002097;ABBA01024268;ABBA01024269;AC093289;AC093537;AF411527;AF508782;AK315314;AMYH02011253;AMYH02011254;AX591263;AX591285;AX591408;AX591430;AY604046;BC069561;BC105021;BC105023;CH471119;CQ897310;CR541665;CR541688;GQ351295;NG_011446;NM_004465;U67918;XM_005248264 AAB61991;AAH69561;AAI05022;AAI05024;AAL05875;AAM46926;AAS99733;ACU00617;ADR82765;BAA22331;CAD61988;CAD61989;CAD62002;CAD62003;CAG46466;CAG46489;CAH69769;EAW56075;NP_004456;O15520;XP_005248321 Hs.664499 1710052;1748915;1773484;1785216 G16001;SHGC-100998;SHGC-110572;SHGC-82302 FGF-10 OTTHUMP00000161804;keratinocyte growth factor 2;produced by fibroblasts of urinary bladder lamina propria APPROVED protein-coding HGNC:3666 03665 149730;180920;602115 REVIEWED 7396428 FGF10-AS1 FGF10 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 5 5 p12 44388834 44414091 + 44388732 44413989 + 8554872 24147006 101927075 ABBA01024269;AC093289;AMYH02011254;AMYH02011255;BC042062;HG497934;NR_108034 Hs.617390 ncrna ENSG00000248464 HGNC:49382 VALIDATED 734211 FGF11 fibroblast growth factor 11 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7368577 7374139 + 7341784 7348256 + 7439370 7444932 + 1580863;6480464;6907045;8554872 10662545;12477932;14702039;15199049;15489334;8790420;9070933 2256 B7Z1C3;I3L4N4;Q92914 AB209390;ABBA01054866;AC113189;AK293131;AK308477;AK308812;AK311269;AMYH02032901;AY049782;AY094623;BC032502;BC037421;BC108265;CH471108;NM_004112;U66199;Z70275 AAB18915;AAH32502;AAI08266;AAL15439;AAM11871;BAD92627;BAH11459;CAA94239;EAW90187;NP_004103;Q92914 Hs.655193 1677983;1772735;1791139;1797528;2120022;2181755 D17S1968;FGF11_2203;Fgf11;G30483;RH78385;STS-W57641 FGF-11;FHF-3;FHF3;FLJ16061;MGC102953;MGC45269 OTTHUMP00000135275;fibroblast growth factor homologous factor 3 APPROVED protein-coding ENSG00000161958 HGNC:3667 03304 601514 REVIEWED 1348702 FGF12 fibroblast growth factor 12 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 3 3 3 q28 190287307 190871367 - 191857033 192445388 - 192139244 192727599 - 6480464;6907045;8554872 10049777;11378392;12244047;12401812;12477932;12815063;14702039;15199049;15489334;16344560;18289114;18519826;18525161;19043545;19953087;20083228;20379614;20634891;21139019;21518765;21832049;22552777;23377640;23602568;23679094;23728906;24096171;7829101;8790420;9345906 2257 C9JEN8;C9JIN3;C9JUK8;H7C1L8;P61328 ABBA01058302;ABBA01058303;ABBA01058304;ABBA01058305;ABBA01058306;AC026671;AC073363;AC079623;AC079847;AC128710;AJ709079;AK125307;AK312513;AK313671;AMYH02008421;AMYH02008422;AMYH02008423;AMYH02008424;AMYH02008425;AMYH02008426;BC022524;BI494808;CH471052;CS263102;DA457811;DA521146;NM_004113;NM_021032;U66197;U76381;XM_005247227;XM_006713538;XM_006713539;Z70276 AAB18786;AAB18913;AAH22524;ABM84701;ABM92221;BAG35414;BAG36423;BAG54181;CAA94240;CAJ77469;EAW78084;EAW78085;EAW78086;NP_004104;NP_066360;P61328;XP_005247284;XP_006713601;XP_006713602 Hs.390250 1336458;1338378;1340974;1651171;1653804;1680148;1688422;1690598;1706826;1715457;1719961;1735220;1746023;1760099;1784848;1797530;2112602;2120090;2135408;2138332;2150079;2178948 D3S2418;D3S2850E;D3S2888E;D3S3024;D3S3557;D3S3663;D3S4363;FGF12_2502;RH120893;RH123959;RH125623;RH16209;RH8137;RH91793;RH98771;SGC36939;SHGC-107740;SHGC-155771;SHGC-56743;SHGC-77655;SHGC-77662;SHGC-80891 FGF-12;FGF12B;FHF-1;FHF1 OTTHUMP00000209260;OTTHUMP00000209261;OTTHUMP00000209262;OTTHUMP00000209263;OTTHUMP00000209265;OTTHUMP00000209266;fibroblast growth factor 12B;fibroblast growth factor FGF-12b;fibroblast growth factor homologous factor 1;myocyte-activating factor APPROVED protein-coding ENSG00000114279 HGNC:3668 03303 601513 REVIEWED 6481336 FGF12-AS1 FGF12 antisense RNA 1 q28 16344560 100873986 AC073363;AC128710;DB034608;NR_046596 Hs.581652 APPROVED ncrna HGNC:40234 VALIDATED 6481335 FGF12-AS2 FGF12 antisense RNA 2 100873987 AC026671 APPROVED ncrna HGNC:40235 6481338 FGF12-AS3 FGF12 antisense RNA 3 100873988 AC026671 APPROVED ncrna HGNC:40236 733500 FGF13 fibroblast growth factor 13 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked mental retardation mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008] X X X q26.3 138079723 138653021 - 137713734 138305051 - 138631573 139222889 - 6480464;6907045;8554872 10071193;10644718;11847221;12244047;12477932;12496262;15199049;15282281;15489334;18482256;21163940;23006423;23373430;23603273;24113164;8790420;9751161;9847253;9914447 2258 A8K1P5;B1AJW0;B1AK17;B1B1H9;Q92913 ABBA01065961;ABBA01065962;ABBA01065963;ABBA01065964;ABBA01065965;ABBA01065966;ABBA01065967;ABBA01065968;ABBA01065969;ABBA01065970;ABBA01065971;ABBA01065972;ABBA01065973;ABBA01065974;ABBA01065975;ABBA01065976;ABBA01065977;ABBA01065978;ABBA01065979;ABBA01065980;ABBA01065981;ABBA01065982;ABBA01065983;ABBA01065984;ABBA01065985;ABBA01065986;ABBA01065987;ABBA01065988;ABBA01065989;ABBA01065990;ABBA01065991;ABBA01065992;ABBA01065993;ABBA01065994;ABBA01065995;ABBA01065996;ABBA01065997;ABBA01065998;ABBA01065999;ABBA01066000;ABBA01066001;ABBA01066002;ABBA01066003;ABBA01066004;ABBA01066005;ABBA01066006;ABBA01066007;AF100143;AF100144;AF108756;AF199612;AF199613;AK289960;AK297545;AK303685;AK316170;AL023798;AL023800;AL031386;AL034398;AL034416;AMYH02040603;AMYH02040604;AMYH02040605;AMYH02040606;AMYH02040607;AMYH02040608;AMYH02040609;AMYH02040610;AY672645;BC012347;BC034340;BG179556;BQ068644;BU195176;CH471150;CS173331;DC362132;KF459432;KF459434;KF459436;KF459438;KF510166;NM_001139498;NM_001139500;NM_001139501;NM_001139502;NM_004114;NM_033642;U66198;XM_005262399;Z81007;Z82193;Z82204;Z83313 AAB18914;AAD16400;AAD16401;AAD21577;AAF31399;AAF31400;AAH12347;AAH34340;AAT70720;ABM83461;ABM86672;BAF82649;BAH12613;BAH14016;BAH14541;CAJ33717;EAW88435;EAW88436;EAW88437;EAW88438;EAW88439;EAW88440;NP_001132970;NP_001132972;NP_001132973;NP_001132974;NP_004105;NP_378668;Q92913;XP_005262456 Hs.6540 1643624;1644591;1654422;1691686;1694312;1694384;1694390;1701872;1702248;1702484;1702948;1748075;1748125;1748187;1787986;1795830;1858341;2124711;2130243;2133832;2135042;2149226;2170350;2172423;2187594;5094450;5094464 AL021594;AL031234;AL031248;AL032577;DXS730;DXS7444E;DXS7530;DXS7768;DXS8213;DXS8363;FGF13_30.2;G42851;G42887;G42890;G54805;G54813;G66658;G66662;G66751;G67207;GDB:313863;L77817;STS-Z40861;WI-11452;WI-19784;sWXD1492;sWXD1493 FGF-13;FGF2;FHF-2;FHF2 OTTHUMP00000024143;OTTHUMP00000024144;OTTHUMP00000024145;OTTHUMP00000024147;fibroblast growth factor homologous factor 2 APPROVED protein-coding ENSG00000129682 HGNC:3670 02090 300070 REVIEWED 6892976 FGF13-AS1 FGF13 antisense RNA 1 X X X q26.3 138160155 138164757 + 137794269 137798767 + 138712107 138716605 + 12477932 100129662 ABBA01065970;AMYH02040604;BC023610;HG512715;NR_038405;Z82193 Hs.571747 1748075 G66662 ncrna ENSG00000226031 HGNC:44264 VALIDATED 1343584 FGF14 fibroblast growth factor 14 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q34 83216004 83896590 - 102373205 103054124 - 101720855 102401774 - 1580863;6480464;6907045;7240710;8554872;8699517 12123606;12364586;12477932;12489043;12815063;15057823;15148151;15199049;15365159;15470364;16166153;16211615;17221845;17236779;20301317;20379614;21130132;22579694;23166209;23509962;23551011;23640885;8790420 2259 Q92915 ABBA01027072;ABBA01027073;ABBA01027074;ABBA01027075;ABBA01027076;ABBA01027077;ABBA01027078;ABBA01027079;ABBA01027080;AL139802;AL159155;AL160153;AL161899;AL356263;AL356266;AL512629;AL591909;AMYH02028620;AMYH02028621;AMYH02028622;AMYH02028623;AMYH02028624;AY188178;BC100920;BC100921;BC100922;CH471085;KF455821;NG_008317;NM_004115;NM_175929;U66200 AAB18916;AAI00921;AAI00922;AAI00923;AAO31806;EAX09054;EAX09055;NP_004106;NP_787125;Q92915 Hs.508616 1334513;1342011;1653861;1688172;1707520;1708684;1708686;1723843;1748527;1750831;2111736;2111752;2113402;2119028;2136337;2147385;2159971;2189905;2189909;2189943;2189945;2189947;2189953;2189955;2189957;2190011;2190017;2190019;2190021;2190023;2190189;2190191;2190209;2190211;2191974;5022755;7186954 99-14359;99-15229;99-16321;99-16332;99-16333;99-20977;99-20978;99-20981;99-26126;99-26169;99-26171;99-26172;99-26183;99-79405;99-79408;99-79424;99-79426;D13S1323;D13S1634;D13S1643;D13S174;D13S1765;D13S888;D13S914;FGF14;G17717;RH118657;RH78346;RH91226;SHGC-104441;SHGC-4718;SHGC-60454;SHGC-81483;SHGC-81484;SHGC-84564;stSG609236 FGF-14;FHF-4;FHF4;MGC119129;SCA27;bA397O8.2 OTTHUMP00000018661;OTTHUMP00000018662;fibroblast growth factor homologous factor 4 APPROVED protein-coding HGNC:3671 03305 601515;609307 REVIEWED 6481291 FGF14-AS1 FGF14 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 q33.1 103019873 103026099 + 102367523 102373749 + 8554872 100874081 ABBA01027072;AL356263;AMYH02028624;BX095866;NR_125912;XR_243066;XR_247951;XR_253204 Hs.569296 APPROVED ncrna HGNC:40237 VALIDATED 6896698 FGF14-AS2 FGF14 antisense RNA 2 13 13 13 q33.1 83889392 83890519 + 103046928 103048055 + 102394578 102395705 + 11991713;12477932;8889548 283481 ABBA01027072;AF086059;AF339777;AL356263;AMYH02028624;BC033993;BM674599;BX096285;NG_008317;NR_036487 Hs.646604 1688172;2190191 99-79408;RH91226 ncrna ENSG00000272143 HGNC:44368 VALIDATED 5488127 FGF14-IT1 FGF14 intronic transcript 1 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 13 q33.1 83787128 83889333 - 102944670 103046869 - 102292320 102394519 - 8554872 14702039;23509962 283480 ABBA01027072;ABBA01027073;ABBA01027074;ABBA01027075;AK093430;AK125748;AL356263;AL356266;AMYH02028623;AMYH02028624;CH471085;HG505856;KF455821;NG_008317;NR_036486 EAX09057 Hs.662212 1334513;1688172;2136337;2190191;7186954 99-79408;D13S174;D13S888;RH91226 RP11-347N5.2 ncrna HGNC:42774 VALIDATED 733065 FGF16 fibroblast growth factor 16 This gene encodes a member of a family of proteins that are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene is expressed in cardiac cells and is required for proper heart development. Mutation in this gene was also observed in individuals with metacarpal 4-5 fusion. [provided by RefSeq, Mar 2014] X X X q13 76943778 76952520 + 76709645 76712013 + 77447675 77456522 + 70737;1580863;6480464;6907045;7240710;8554872;8699517 9473496 10766846;11131657;11276432;11474196;12851399;16211270;16597617;16756958;18565327;20097674;21832049;23709756;24253043 8823 H0Y5L6;O43320 AB009391;ABBA01029654;ABBA01029655;AC243316;AMYH02039810;BX682239;CH471104;NG_034050;NM_003868 AAI48640;AAI53197;BAA24956;EAW98617;NP_003859;O43320 Hs.666364 5024541 D1S3688 FGF-16;MF4 OTTHUMP00000015342;metacarpal 4-5 fusion APPROVED protein-coding HGNC:3672 04764 300827;309630;609630 REVIEWED 733951 FGF17 fibroblast growth factor 17 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was shown to be prominently expressed in the cerebellum and cortex. The mouse homolog of this gene was localized to specific sites in the midline structures of the forebrain, the midbrain-hindbrain junction, developing skeleton and developing arteries, which suggests a role in central nervous system, bone and vascular development. This gene was referred to as FGF-13 in reference 2, however, its amino acid sequence and chromosomal localization are identical to FGF17. [provided by RefSeq, Jul 2008] 8 8 8 p21 20862491 20868383 + 21900264 21906320 + 22042753 22048809 + 69833;708340;1580863;6480464;6484113;6907045;8699517;7240710;8554872 9514906;9751161 10381577;10579907;10751172;11294897;12477932;12975309;14702039;15129425;15199049;15489334;16384934;16597617;1697263;17133345;19122663;21048031;21319186;23643382;8889548;9045692;9139660 8822 O60258 AB009249;ABBA01005498;ABBA01005499;AC091171;AF497475;AK091643;AMYH02017587;AY358869;BC069475;BC105131;BC113489;BC143789;BM666883;CH471080;NG_033889;NM_003867;XM_005273675;XM_005273676 AAH69475;AAI05132;AAI13490;AAI43790;AAM09570;AAQ89228;ADR83507;BAA25429;EAW63727;EAW63728;EAW63729;NP_003858;O60258;XP_005273732;XP_005273733 Hs.248192 FGF-13;FGF-17;HH20 OTTHUMP00000122553;OTTHUMP00000224730 APPROVED protein-coding HGNC:3673 04765 603725;615270 REVIEWED 737083 FGF18 fibroblast growth factor 18 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. [provided by RefSeq, Jul 2008] 5 5 5 q34 166879014 166916982 + 170846667 170884630 + 171419663 171457626 + 69834;1580863;704404;6480464;6484113;6907045 9660775 10353607;10579907;10629055;10751172;11076863;11124520;11256614;11294897;12477932;12975309;15199049;15489334;15489336;15749088;16019430;16381901;16384934;16597617;16756958;1697263;17128416;17133345;17360555;17890768;18978678;19197348;19453261;19727229;19909293;20507176;21048031;21319186;21988832;23397188;24018557;24577103;9742123 8817 O76093 AB007422;ABBA01044074;ABBA01044075;ABBA01044076;ABBA01044077;ABBA01044078;AC011400;AC093246;AF075292;AF211188;AMYH02012733;AY358811;BC006245;BQ018759;BT019570;BT019571;CH471062;CS008054;FB706733;NG_029158;NM_003862 AAC62240;AAF22977;AAH06245;AAQ89954;AAV38377;AAV38378;ABM83662;ABM86909;BAA31986;CAI53491;CAL38673;CAS03064;EAW61441;EAW61442;NP_003853;O76093 Hs.87191 1726727;1780964;1795832;2159144;5094932 FGF18;FGF18_1325;G62751;RH46294;bac5486T FGF-18;ZFGF5 OTTHUMP00000161023 APPROVED protein-coding ENSG00000156427 HGNC:3674 04766 603726 REVIEWED 1344909 FGF19 fibroblast growth factor 19 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This growth factor is a high affinity, heparin dependent ligand for FGFR4. Expression of this gene was detected only in fetal but not adult brain tissue. Synergistic interaction of the chick homolog and Wnt-8c has been shown to be required for initiation of inner ear development. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 66810044 66816141 - 69513006 69519106 - 69698238 69704338 - 1580863;6480464;6484113;6907045 10525310;10579907;10652257;11110663;11294897;11956156;12057932;12477932;12792807;12815072;12975309;14730967;14976145;15199049;15340161;15489334;16597617;17000708;17339340;17599042;17623664;17711860;18187602;18559909;18829467;19185005;19233843;19237543;19681655;20013647;20018895;20093562;20453838;20691689;21397858;21436455;21437243;21574752;21653700;21691104;21747170;21953282;22166511;22267484;22396169;22442730;22561792;23038264;23064887;23205607;23329754;23456506;23628619;23940810;23981126;24248542;24260557;24321096;24728076;24827712;9931477 9965 O95750 AB018122;ABBA01010293;AF110400;AMYH02025037;AMYH02025038;AP001888;AY358302;BC017664;BT006729;CH471076;NM_005117 AAD45973;AAH17664;AAP35375;AAQ88669;ADZ15716;BAA75500;EAW74751;NP_005108;O95750 Hs.249200 2163390 RH67988 FGF-19 OTTHUMP00000237182 APPROVED protein-coding ENSG00000162344 HGNC:3675 04868 603891 REVIEWED 70822 FGF2 fibroblast growth factor 2 (basic) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq, Jul 2008] 4 4 4 q26 121130707 121202234 + 123747568 123819390 + 122826708 122898235 + 1580863;704404;2315840;2315915;2290290;2290287;2290291;2290288;2290303;2315842;2315844;2315845;2315858;2315860;2315863;2315870;2315875;2315879;2315880;2315885;2315911;2289364;2298517;2298516;2315843;2315866;2315876;2315846;2315912;2315907;2292211;2317762;2317763;2317758;2317759;2317756;2317765;2317760;6480464;6484113;6907045;8655565;8655585;8655593;8554854;8554852;8554853;8554855;8655591;8655592;8655580;8655581;8655587;8655594;8655595;8655577;8655550;8655567;8547968;8655596;8655598;8655582;8655590;8655548;8655549;7364779;8554856;8554857;8655597;8655568;8655569;8655658;8655667;8655614;8655643;8655668;8655640;8655664;8655615;8655633;8655642;8655613;8655647 10342378;10359334;10541235;10792180;11020217;11078065;11437330;11478488;11562741;11908679;12184408;12533868;12663474;12670449;12717266;12897558;14517397;14522896;14585103;14613644;14664816;14706681;14715109;14975211;14975212;15273655;15451784;15491965;15758817;15965421;15967670;16008728;16139411;16507899;16644707;16720444;17066631;1718278;17244329;17505145;17562191;17763394;17997184;18196276;18279437;18704599;19197140;19279131;19474406;19491954;19638336;20015768;20198298;21402405;21600881;22407271;22924373;23303813;23478040;23603001;23740668;7549793;8033826;8098714;8125754;8532703;8685603;8808969;8929896;9127818;9141532;9183688;9268592;9293890;9561364;9613386;9840508 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2247 P09038 AA256481;AB451321;AB451450;ABBA01044742;ABBA01044743;AC021205;AMYH02010021;AY820133;BC111737;BE439775;BP292299;BU501243;CH471056;CN315083;J04513;M17599;M27968;NG_029067;NM_002006;S47380;S81809;X04431;X04432;X04433;Y13468 AAA52448;AAA52531;AAA52532;AAA52533;AAA52534;AAB21432;AAD13853;AAI66646;AAV70487;BAG70135;BAG70264;CAA28027;CAA28028;CAA28029;CAA73868;EAX05222;NP_001997;P09038 Hs.284244 1751869;1775110;2116174;2152380;5014063;5016781 D15S1390;SHGC-105784;SHGC-31504;SHGC-59517;SHGC-59784;SHGC-67307 BFGF;FGF-2;FGFB;HBGF-2 OTTHUMP00000037513;basic fibroblast growth factor bFGF;fibroblast growth factor 2;heparin-binding growth factor 2;prostatropin APPROVED protein-coding ENSG00000138685 HGNC:3676 00622 134920 REVIEWED 731457 FGF20 fibroblast growth factor 20 The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009] 8 8 8 p22 15816530 15825865 - 16850334 16859674 - 16992825 17002165 - 1580863;6480464;6907045;8699517;7240710;8554872 10579907;10629055;10913340;11032730;11276432;11306498;12477932;15122513;15199049;15592430;15967032;16597617;17213182;17515805;18205889;18252210;18568448;19133659;19564416;19619121;20379614;20427658;20471450;22342445;22698282;23516905;23938014 26281 H0YAT9;Q9NP95 AB030648;AB044277;ABBA01021589;AC025218;AC136305;AMYH02017520;AY696296;BC096720;BC098128;BC098153;BC098339;BC127125;BC137446;BC137447;BC141979;BC141980;CH471080;CQ967762;CS441943;DT220794;NG_015978;NM_019851 AAH96720;AAH98128;AAH98153;AAH98339;AAI37447;AAI37448;AAT85804;BAB03530;BAB03633;CAI38634;CAL68869;EAW63828;NP_062825;Q9NP95 Hs.199905 2219082 FGF20_2882 FGF-20;RHDA2 OTTHUMP00000122436 APPROVED protein-coding HGNC:3677 05709 605558;615721 REVIEWED 1344631 FGF21 fibroblast growth factor 21 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this growth factor has not yet been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 46125436 46127638 + 49258816 49261587 + 48755559 48758330 + 1303354;1580863;6480464;6907045 10858549 12477932;12975309;15199049;15340161;15902306;17068132;17452648;17623664;17926232;18252893;18559909;18680716;18722685;18829467;18840768;19059246;19117008;19318452;19322201;19401423;19487637;19528204;19531592;19681655;19699495;19702724;19720803;19926712;19953087;20332535;20362303;20451522;20452080;20566462;20566587;20629328;20675007;20682689;20717167;21060863;21123446;21206918;21309058;21373720;21502324;21505329;21521346;21521350;21525989;21596453;21664250;21691104;21696361;21712364;21750278;21767451;21812521;21820356;21849508;21889884;21926274;21926972;21949781;21988350;21988832;22013098;22046277;22136913;22152380;22190000;22233381;22248288;22293928;22344195;22378787;22398021;22438225;22442730;22523080;22529197;22539584;22701542;22740503;22881230;23123503;23129782;23270727;23278761;23283977;23372041;23533568;23545215;23626003;23636237;23667629;23759753;23768789;23782039;23824729;23887638;23912560;23943793;23981342;24078096;24142477;24184811;24205333;24260557;24369918;24432989;24735204;24769090;24907231 26291 Q9NSA1 AB021975;ABBA01032968;AC009002;AMYH02036310;AX149492;AY359086;BC018404;CH471177;HC470937;HI660981;HI661168;KF456598;NG_007510;NG_033945;NM_019113;XM_005258731 AAH18404;AAQ89444;ABM82712;ABM85896;BAA99415;CAC41219;CBL54507;CBY65805;CBY65875;EAW52401;EAW52402;NP_061986;Q9NSA1;XP_005258788 Hs.283015 FGF-21 APPROVED protein-coding ENSG00000105550 HGNC:3678 09447 609436 REVIEWED 733776 FGF22 fibroblast growth factor 22 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 19 19 19 p13.3 173993 177696 - 639901 643824 + 639885 643824 + 1580863;6480464;6907045 10579907;11294897;11342227;12477932;12660731;12975309;15199049;15260994;15806171;16597617;17133345;8622701 27006 K7ELB9;O60371;Q9HCT0 AB021925;ABBA01002580;AC004449;AMYH02035117;AY359084;AY426986;BC137444;BC137445;BC144645;CH471242;NM_001300812;NM_020637;XM_005259538 AAC06148;AAI37445;AAI37446;AAQ89955;AAQ93357;BAB13479;EAW61175;EAW61176;NP_001287741;NP_065688;Q9HCT0;XP_005259595 Hs.248087 FGF-22 APPROVED protein-coding ENSG00000070388 HGNC:3679 05784 605831 REVIEWED 1351456 FGF23 fibroblast growth factor 23 This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013] 12 12 12 p13.3 6099463 6110952 - 4477393 4488894 - 4368227 4379728 - 1598933;1580863;6480464;6484113;6907045;7240710;8554872;8699517 11062477 11032749;11157998;11344269;11409890;11737582;11805436;12032146;12032180;12130585;12419819;12477932;12519781;12590648;12678920;12791601;12851820;12854832;12874285;12975309;14633152;14988389;15040831;15199049;15248822;15264182;15268897;15284207;15340161;15489334;15590700;15613425;15749088;15930999;15961556;16033853;16055933;16081635;16234967;16337659;16352682;16381997;16597617;16638743;16941023;17086194;17129170;17333246;17359508;17374707;17464094;17494882;17567652;17699549;17761032;17968495;17982392;18166826;18214537;18234575;18282132;18310961;18346951;18591743;18660670;18660671;18678710;18682534;18829467;18972258;19019915;19050056;19148564;19181315;19188744;19214027;19215029;19329831;19357251;19366850;19395730;19411468;19414634;19453261;19480830;19515808;19524924;19609206;19655082;19679205;19684183;19712854;19776202;19797911;19837926;19844248;19929273;19946326;19965540;19966287;20037176;20150940;20157196;20176609;20180772;20196777;20357029;20368304;20379614;20394945;20448073;20479029;20525976;20529556;20546343;20558539;20571400;20576822;20583336;20613714;20634326;20641162;20685863;20707671;20717920;20813767;20837471;20838781;20943782;20944552;20946192;20955275;20966122;20966399;21030580;21041973;21048031;21050253;21135546;21139318;21303965;21335460;21389978;21390563;21406293;21436289;21472778;21479768;21502756;21597229;21673295;21852584;21865755;21873490;21903574;21903990;21945708;21984611;21985788;22010474;22023931;22034506;22076875;22099949;22109743;22121948;22300739;22311343;22319041;22360923;22362063;22383345;22393163;22396161;22396162;22396166;22406119;22419710;22421513;22425694;22492635;22530966;22551310;22554017;22567137;22573526;22577109;22592418;22647968;22689697;22700885;22703926;22710695;22739976;22742720;22851630;22886720;23013306;23085728;23144073;23146451;23155694;23180879;23235154;23243213;23263487;23324126;23325605;23335040;23337450;23339433;23389416;23413976;23428834;23471131;23505057;23526964;23555610;23581403;23587028;23652546;23652554;23677707;23677793;23740037;23748358;23795812;23849306;23852336;23858620;23929933;23931875;23931880;24006476;24015259;24039882;24051956;24053368;24092829;24119158;24125420;24157489;24158986;24164913;24168888;24180481;24262510;24269946;24311704;24434381;24525546;24706015;24706917;24864466;24870839;25095658 8074 Q7Z4T2;Q9GZV9 AB037973;AB047858;ABBA01048765;AC008012;AF263537;AMYH02025923;AY336491;AY358323;AY566236;BC069333;BC096713;BC098147;BC098252;CH471116;CS072309;GM685208;GM710003;HH835133;NG_007087;NM_020638 AAG09917;AAH69333;AAH96713;AAH98147;AAH98252;AAP97433;AAQ88689;AAS59157;BAB13477;BAB55889;CAI93447;CAT81644;CAT82838;CBX33262;EAW88848;NP_065689;Q9GZV9 Hs.287370 1655430;1793004;2219084 FGF23_4082;G19259;PMC182207P2 ADHR;FGF-23;FGFN;HPDR2;HYPF;PHPTC OTTHUMP00000238376;phosphatonin;tumor-derived hypophosphatemia inducing factor;tumor-derived hypophosphatemia-inducing factor APPROVED protein-coding ENSG00000118972 HGNC:3680 05648 193100;211900;605380 REVIEWED 1346722 FGF3 fibroblast growth factor 3 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq, Jul 2008] 11 11 11 q13 66921757 66931244 - 69624736 69634192 - 69809968 69819424 - 1580863;6480464;6907045;7240710;8554872;8699517 10579907;10749884;11294897;11353842;11438656;12477932;15199049;15489334;16263090;16597617;17133345;17236138;17360555;17656375;18435799;18464913;18562274;18701883;1922362;19453261;19923290;19950373;20018768;20453838;21306635;21359960;21480479;22993869;23169889;23443559;24120895;2470007;24920722;3023852;8223243;8622701;8663044 2248 P11487 ABBA01010294;AMYH02025039;AP006345;BC113739;CH471076;NG_009016;NM_005247;X14445 AAI13740;CAA32615;EAW74753;EAW74754;NP_005238;P11487 Hs.37092 1855676 SHGC-11930 FGF-3;HBGF-3;INT2 INT-2 proto-oncogene protein;OTTHUMP00000237184;V-INT2 murine mammary tumor virus integration site oncogene homolog;fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog);heparin-binding growth factor 3;murine mammary tumor virus integration site 2, mouse;oncogene INT2;proto-oncogene Int-2 APPROVED protein-coding HGNC:3681 01289 164950;610706 REVIEWED 1343486 FGF4 fibroblast growth factor 4 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008] 11 11 11 q13.3 66884811 66887185 - 69587797 69590171 - 69762363 69775403 - 1580863;6480464;6484113;6907045 10089404;10579907;11021964;11023873;11294897;11486033;11743396;11840335;12008951;12163055;12172783;12660731;12841847;12923055;14980503;15146197;15199049;15695515;1611909;16597617;1697263;17133345;17167778;17390055;17852409;18192227;18510611;18811955;19074885;19277121;20452482;20453838;20634891;20673868;20864512;21048031;21567388;21673370;22237711;22587598;23939864;24120895;2953031;2957062;2959959;2974287;3060803;3283658;8663044;9139660 2249 AAB21430;P08620;Q14569 ABBA01010294;AMYH02025039;AP001888;AW340506;CH471076;CN429959;CQ783028;FJ456981;J02986;M17446;NM_002007;XM_005273847;XM_006718475 AAA59473;AAB21430;AAB59555;AAB59556;AAI56334;AAI72495;ACJ68447;CAF86234;EAW74752;NP_001998;P08620;XP_005273904;XP_006718538 Hs.1755 1742487;2116136;2124134 D11S4381;FGF4;GDB:197559 FGF-4;HBGF-4;HST;HST-1;HSTF-1;HSTF1;K-FGF;KFGF OTTHUMP00000237541;fibroblast growth factor 4 splice isoform;heparin secretory transforming protein 1;heparin secretory-transforming protein 1;heparin-binding growth factor 4;human stomach cancer, transforming factor from FGF-related oncogene;kaposi sarcoma oncogene;oncogene HST;transforming protein KS3 APPROVED protein-coding HGNC:3682 01294 164980 REVIEWED 1350517 FGF5 fibroblast growth factor 5 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 4 4 4 q21 78481246 78505675 + 81187742 81212171 + 80266588 80291017 + 1580863;6480464;6907045;8699517 10579907;10823842;11454700;11715949;11876253;12008951;12477932;12660731;14702039;15199049;1658709;16597617;1697263;1700424;17133345;18362893;19430483;2005884;20154207;20201926;20479155;20542020;20634891;20819778;20852445;21045733;21909110;21909115;22959498;23263486;24989505;2577873;3211147;7923352;8374885;8386828;8663044;9045692;9134330;9139660;9323936;9333017;9786939 2250 H0Y9E2;P12034;Q6A549;Q8NBG6 AA461028;AB016517;ABBA01063402;ABBA01063403;AC021127;AF171928;AF355187;AF535149;AK090557;AK291962;AK312065;AMYH02009564;BC074858;BC074859;BC131502;BG252761;BQ001160;CH471057;DQ151636;DR004226;M23534;M23536;M37825;NG_029501;NM_001291812;NM_004464;NM_033143 AAB06463;AAB60698;AAB60699;AAF89742;AAH74858;AAH74859;AAI31503;AAN04097;AAQ15127;AAZ67914;BAA33738;BAC03477;BAF84651;BAG35001;EAX05859;EAX05860;NP_001278741;NP_004455;NP_149134;P12034 Hs.37055 1646921;1667341;1755583;1769120;5015619;5037552 D11S3114;D4S3139;D8S2279;SHGC-142438;SHGC-59544;SHGC4-69 FGF-5;HBGF-5;Smag-82;TCMGLY OTTHUMP00000160795;OTTHUMP00000160796;heparin-binding growth factor 5 APPROVED protein-coding ENSG00000138675 HGNC:3683 01307 165190;190330 REVIEWED 732549 FGF6 fibroblast growth factor 6 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008] 12 12 12 p13 6165354 6176826 - 4543308 4554780 - 4434142 4445614 - 1580863;2289066;2301089;6480464;6484113;6907045;8554872 10945637;2289066 10579907;11294897;11801566;12477932;1385111;15199049;15489334;1549352;16597617;1697263;17133345;1886714;20458746;20558539;23263487;24483146;2649847;8020938;8663044;9139660 2251 H0YGZ9;P10767 ABBA01048764;AC008012;AMYH02025924;AMYH02025925;AY581424;BC121097;BC121098;CH471116;NM_020996;X14071;X14072;X14073;X57075;X63454 AAI21098;AAI21099;AAS79318;CAA40358;CAA40359;CAA40360;CAA45054;CAB37648;EAW88847;NP_066276;P10767 Hs.166015 1742903 GDB:214840 FGF-6;HBGF-6;HST-2;HST2;HSTF-2 OTTHUMP00000238378;heparin secretory-transforming protein 2;heparin-binding growth factor 6 APPROVED protein-coding ENSG00000111241 HGNC:3684 00623 134921 REVIEWED 69203 FGF7 fibroblast growth factor 7 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008] 15 15 15 q21.2 26608551 26672713 + 49715375 49779523 + 49423178 49487326 + 1580863;2289084;2289080;2289085;2289086;2301091;2301094;2301090;6480464;6484113;6907045;8554872 11000522;11482780;17306351;18566572;9000125;9070494;9285567 10541313;10579907;10702276;11023837;11147673;11294897;11326315;11493558;11821103;11891329;11937263;11943656;11973338;12008951;12016100;12122441;12215437;12243757;12413766;12438323;12477932;12529371;12645668;12802496;1281549;1309608;1409637;14962112;15199049;15250830;15252450;15327889;15562028;15613483;15677771;15679583;15690149;15695515;15781986;15806171;15809711;16141466;16162944;16216128;16344560;16554439;1664700;16984257;17049492;17133345;17200110;17301835;17360555;17449030;17525264;17593825;17596295;17609292;17692400;17706640;17786302;17882267;17944804;17953372;17994369;18386288;19106113;19148469;19250802;19281086;19287982;19326389;19434818;19460752;19584147;19700645;19780816;19920075;19956603;20036421;20065999;20620021;20634891;21082280;21340484;21436609;21565293;21782870;21921092;21988832;22481617;22555975;22713451;22946653;22949940;23096718;23408906;23545898;23547113;23554911;23582717;24002438;24026476;24051090;24188496;24426773;2475908;2915979;7680645;7687739;7749227;7973639;8392040;8566750;8663044;8898224;9326632;9369951;9582367;9740653;9794620 2252 H0YNE7;P21781 ABBA01039126;AC022306;AC025919;AK313160;AMYH02030395;BC010956;CH471082;CR542002;DB206350;M60828;NG_029159;NM_002009;S81661 AAA63210;AAB21431;AAH10956;BAG35978;CAG46799;EAW77376;NP_002000;P21781 Hs.567268 5021494;5092304 G15911;SHGC-84206 FGF-7;HBGF-7;KGF OTTHUMP00000162252;heparin-binding growth factor 7;keratinocyte growth factor APPROVED protein-coding ENSG00000140285 HGNC:3685 01022 148180 REVIEWED 1351158 FGF7P1 fibroblast growth factor 7 pseudogene 1 18 18 p11.21 14885895 14890090 - 14885896 14890091 - 9326632 387559 ABBA01048264;AMYH02034361;AP005121;NG_006580 HsT283 pseudo HGNC:21455 INFERRED 1342596 FGF7P2 fibroblast growth factor 7 pseudogene 2 21 21 q11.2 14721586 14725781 + 13349265 13353460 + 9326632 394217 Q9NSJ0 ABBA01030836;AL049911;AL163203;AMYH02037512;NG_005961 CAB90393 FGF7L;PRED3 pseudo HGNC:17193 INFERRED 733956 FGF8 fibroblast growth factor 8 (androgen-induced) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008] 10 10 10 q24 97268628 97274500 - 103529887 103540126 - 101770130 101780369 - 1580863;2289339;2289343;2289338;2289340;2289342;2289344;2301097;2314151;2314157;2301098;6480464;6484113;6907045;7240710;8554872;8699517 10023681;10343609;11072239;11406643;11764380;12208767;12778074;18699993;19464577;9840935 10574949;10579907;10736564;10751172;11021964;11294897;11341643;11358849;11420691;11953856;12054865;12140757;12477932;15146197;15193767;15199049;15935652;16384934;16597617;16683270;17133345;17264867;17265164;17309880;17394220;17512240;17600781;18386787;18437684;18596921;19415685;20301509;20301702;20463092;20634891;21034500;21048031;21076617;21119603;21319186;21832120;22237711;22319038;22423049;23466786;23533228;23906837;24464787;7737407;8595889;8661131;8663044;8700553;8891346;9139660;9332670 2253 A1A515;P55075;R4GMQ3 AB014615;ABBA01063188;ABBA01063189;AC010789;AF520763;AMYH02023680;AMYH02023681;BC069106;BC128235;BC128236;CH471066;CN369230;CS007996;D38752;NG_007151;NM_001206389;NM_006119;NM_033163;NM_033164;NM_033165;S78466;U36223;U36228;U46211;U46212;U46213;U47011;U56978 AAB03787;AAB17893;AAB17894;AAB34255;AAB40953;AAB40954;AAB40955;AAC50782;AAC50783;AAC50784;AAC50785;AAH69106;AAI28236;AAI28237;AAM55238;BAA22527;BAA28605;CAI53480;EAW49746;EAW49747;EAW49748;EAW49749;EAW49750;NP_001193318;NP_006110;NP_149353;NP_149354;NP_149355;P55075 Hs.57710 2177470;2189759 D1Bda63;RH18043 AIGF;FGF-8;HBGF-8;HH6;KAL6;MGC149376 OTTHUMP00000020348;OTTHUMP00000020349;OTTHUMP00000020350;OTTHUMP00000020351;androgen-induced growth factor;fibroblast growth factor 8;heparin-binding growth factor 8 APPROVED protein-coding ENSG00000107831 HGNC:3686 02727 600483;612702 REVIEWED 735806 FGF9 fibroblast growth factor 9 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008] 13 13 13 q11-q12 3307609 3341037 + 22245215 22278640 + 21671076 21704501 + 69835;1580863;704404;6480464;6484113;6907045;7240710;8554872;8699517 8321227 10362017;10544294;10574949;10579907;11060292;11223514;11294897;12072406;12477932;12565813;12660731;14534538;14602803;14702039;15057823;15199049;15489334;15780951;16540513;16597617;1697263;16982695;17133345;17154280;17848411;18165946;18593907;18618013;19460469;19564416;19589401;20424473;20634891;20819778;21048031;21499246;21666490;22006051;22920789;22939835;23291589;23727932;23797050;23898208;24011613;24015269;24135036;24239165;24334956;24511001;24529757;8428960;8575785;8576175;8663044;9121694;9139660;9507114 2254 P31371 ABBA01068609;AK095571;AK290792;AL139378;AMYH02027663;AMYH02027664;AY682094;BC069692;BC103978;BC103979;CH471075;CR746503;D14838;NG_016272;NM_002010 AAH69692;AAI03979;AAI03980;AAT74624;BAA03572;BAF83481;EAX08316;NP_002001;P31371 Hs.111 1650902;1694774;1730572;1777045;1791141;1795834;2121168;2145850;2166330;7189339;7189347 D13S143;D13S1821;FGF9_1657;G43600;RH48943;RH78332;STS-D14838;STS-H24274;UniSTS:258275 FGF-9;GAF;HBFG-9;HBGF-9;MGC119914;MGC119915;SYNS3 OTTHUMP00000018804;fibroblast growth factor 9 (glia-activating factor);glia-activating factor;heparin-binding growth factor 9 APPROVED protein-coding ENSG00000102678 HGNC:3687 02951 600921;612961 REVIEWED 1350352 FGFBP1 fibroblast growth factor binding protein 1 This gene encodes a secreted fibroblast growth factor carrier protein. The encoded protein plays a critical role in cell proliferation, differentiation and migration by binding to fibroblast growth factors and potentiating their biological effects on target cells. The encoded protein may also play a role in tumor growth as an angiogenic switch molecule, and expression of this gene has been associated with several types of cancer including pancreatic and colorectal adenocarcinoma. A pseudogene of this gene is also located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011] 4 4 4 p15.32 16401736 16404515 - 15937192 15940363 - 15935569 15938740 - 1580863;6480464 10753873;11148217;11291074;11407864;11509569;12477932;15489334;15806171;16257968;16324873;16352855;16713569;17178288;1885605;19411256;19668233;20450993;20634891;20677014;21436287;9334727;9784842 9982 Q14512 ABBA01032575;AC005798;AF149412;AK291307;AMYH02008806;AW959908;BC003628;BC008910;BC018852;BQ435589;BX434467;CH471069;M60047;NM_005130 AAA58636;AAD39216;AAH03628;AAH08910;BAF83996;EAW92748;NP_005121;Q14512 Hs.1690 2109305;2140253;2168610 D4S3140;FGFBP1_9026;STS-M60047 FGF-BP;FGF-BP1;FGFBP;FGFBP-1;HBP17 17 kDa HBGF-binding protein;17 kDa heparin-binding growth factor-binding protein;FGF-binding protein 1;OTTHUMP00000123370;fibroblast growth factor-binding protein 1;heparin-binding growth factor binding protein APPROVED protein-coding ENSG00000137440 HGNC:19695 06371 607737 REVIEWED 1602454 FGFBP2 fibroblast growth factor binding protein 2 This gene encodes a member of the fibroblast growth factor binding protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of gene product may be associated with atopic asthma and mild extrinsic asthma.[provided by RefSeq Staff, Oct 2008] 4 4 4 p16 16426407 16429403 - 15961863 15964859 - 15960240 15963236 - 6480464 11342666;12322897;12477932;12975309;15489334;15898988;16652150;21079801;21832049;23333304;23534349 83888 Q9BYJ0 AB021123;ABBA01032575;AC005598;AF361936;AMYH02008806;AY358978;BC025720;CH471069;CN480296;NM_031950 AAH25720;AAK51503;AAQ89337;ABM82988;ABM86182;BAB39770;EAW92749;NP_114156;Q9BYJ0 Hs.98785 1687193 RH92297 HBP17RP;KSP37 37 kDa killer-specific secretory protein;FGF-BP2;FGF-binding protein 2;FGFBP-2;HBp17-RP;HBp17-related protein;OTTHUMP00000158635;fibroblast growth factor-binding protein 2;killer-specific secretory protein of 37 kDa APPROVED protein-coding ENSG00000137441 HGNC:29451 07413 607713 REVIEWED 1347294 FGFBP3 fibroblast growth factor binding protein 3 ENCODES a protein that exhibits fibroblast growth factor binding; heparin binding; INVOLVED IN positive regulation of fibroblast growth factor receptor signaling pathway; positive regulation of vascular permeability; FOUND IN extracellular matrix; extracellular region; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; copper(2+) sulfate 10 10 10 q23.32 87410015 87412928 - 93666345 93669258 - 91906588 91909501 - 6480464 12477932;15164054;15489334;16303743;18669637 143282 Q8TAT2 ABBA01021921;AK075410;AK315427;AL359198;AMYH02023523;BC025966;CH471066;CS051215;DQ503576;DR759872;NM_152429 AAH25966;ABF56582;BAC11602;BAG37815;CAI72103;EAW50104;NP_689642;Q8TAT2 Hs.466120 2169497;2169499 RH44571;SHGC-34818 C10orf13;FGF-BP3;MGC39320 FGF-binding protein 3;FGFBP-3;OTTHUMP00000020092;chromosome 10 open reading frame 13;fibroblast growth factor-binding protein 3 protein-coding ENSG00000174721 HGNC:23428 08499 VALIDATED 732290 FGFR1 fibroblast growth factor receptor 1 The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 8 8 8 p11.23-p11.22 37221633 37279334 - 38268656 38326352 - 38411138 38468834 - 1580863;704404;2315911;6480464;6484113;6907045;7240710;8655565;7364779;8554872;8699517;8655640 11020217;19197140;23478040;9183688 10336501;10464310;10490103;10551883;10574949;10579907;10629055;10713090;10748122;10751172;10830168;10918587;10950949;11030354;11032250;11090629;11173846;11257130;11353842;11401320;11459840;11486033;11693202;11746971;11759058;11877385;11919391;12020352;12031912;12080186;12121226;12141425;12181353;12373339;12397010;12411316;12440521;12477932;12573278;12594223;12601080;12604616;12614330;12627230;12651930;12746216;12791257;12794748;12799194;12815057;1317750;1379697;1379698;1380281;14513299;14587039;14636241;14702039;15001591;15096041;15117958;15273729;15297314;15316024;15489334;15509650;15558020;15564375;15605412;15613419;15618886;15625620;15680705;15695515;15767480;15774903;15817662;15845591;15863030;15863034;15929978;15955231;16091423;16186508;16188231;16273093;16305343;16316338;16335952;16344560;16365308;16424058;16440004;16470795;1650441;1652059;16597617;16598308;16606836;1662973;16685373;16757108;16764984;16807070;16807244;16876430;16882753;1689310;16949906;1697263;17086194;17121884;17154279;1722570;1722683;17255109;17318851;17343269;17360555;17366557;17389761;17397528;17414280;17540176;17545628;17671674;17696196;17893707;17963255;18034870;18042549;18059337;18160472;18171671;18216705;18231572;18315732;18411303;18415014;18463157;18469019;1846977;18480409;18563556;18593464;18665077;18669637;18682503;18719360;18723471;18790757;18829480;18940940;18978678;19082464;19096867;19211868;19224897;19258500;19330026;19453261;19458078;19489874;19574212;19658100;19663702;19665973;19666467;19696444;19727229;19728793;19730683;19802384;19820032;19822079;19890272;19920251;19920824;19923290;19953087;20024612;20036812;20068287;20103604;20117945;20179196;20301509;20301628;20362962;20379614;20388777;20389085;20389169;20421966;20536592;20538960;20544801;20606682;20634891;20643727;20672350;20686451;20717167;20734064;20855522;20889570;20932831;21041608;21139048;21160078;21329481;21330321;21430024;21451043;21515689;21527526;2159626;21621521;2162671;21666686;21666749;2167437;21682876;21712446;21739604;21765395;21779335;21835001;21868365;21885851;21942441;21952621;21969607;21988832;22030335;22179561;22247553;22248288;22319038;22393163;22438050;22442730;22499828;22505724;22514272;22523080;22569333;22573348;22648708;22665522;22673519;22684217;22701738;22724017;22781593;22791819;22837387;22842457;22903848;22939624;22955284;22974441;22989054;23029290;23070782;23082000;23154428;23154548;23171834;23182986;23243019;23276709;23296701;23334987;23348274;23401445;23434054;23443559;23468956;23536707;23563700;23564461;23569208;23594707;23602568;23619603;23620752;23777766;23806793;23808822;23812909;23861540;23887299;23939983;23962428;24063890;24077455;24135816;24141780;24157794;24183471;24255716;24294370;24302556;24305876;24385678;24398778;24616020;24776567;24806303;24853178;2554327;7514169;7516330;7537362;7680645;7761103;7789168;7874169;7960240;8074689;8125298;8386828;8417497;8576175;8622701;8663044;8692946;8737680;8752212;8753773;8756477;8929854;9139660;9212826;9480847;9632781;9655399;9660748;9949182 2260 C9J1L5;C9J205;E7EU09;E9PKF2;E9PKV7;E9PKX3;E9PN14;E9PNM3;E9PQ40;H0YE20;J3KNT4;P11362 A29216;AB208919;ABBA01023532;ABBA01023533;AC087623;AF173898;AK001052;AK024388;AK094303;AK130555;AK222718;AK223126;AK291754;AK292470;AK309947;AMYH02017830;AMYH02017831;AW206093;AY585209;BC015035;BC018128;BC091494;BQ774633;BX649167;CH471080;CX756209;CX757985;DB300904;EF525171;EU826596;EU826597;FJ809916;FJ809917;M34185;M34186;M34187;M34188;M34641;M37722;M60485;M63887;M63888;M63889;NG_007729;NM_001174063;NM_001174064;NM_001174065;NM_001174066;NM_001174067;NM_015850;NM_023105;NM_023106;NM_023110;S76658;X51803;X52833;X57118;X57119;X57120;X57121;X57122;X66945;XM_006716303;XM_006716304;XM_006716305;XM_006716306;XM_006716307;XM_006716308;XM_006716309;XM_006716310;XM_006716311;XM_006716312;XM_006716313;XM_006716314;Y00665 AAA35835;AAA35836;AAA35837;AAA35838;AAA35839;AAA35840;AAA35958;AAA35959;AAA35960;AAA75007;AAD14230;AAH15035;AAH18128;AAH91494;AAQ13645;AAS79322;ABM85925;ACF47632;ACF47633;ACO38645;ACO38646;BAD92156;BAD96438;BAD96846;BAF84443;BAF85159;CAA01958;CAA36101;CAA37015;CAA40400;CAA40401;CAA40402;CAA40403;CAA40404;CAA47375;CAA68679;EAW63303;EAW63304;EAW63305;EAW63306;EAW63307;EAW63308;EAW63309;EAW63310;EAW63311;EAW63312;EAW63313;EAW63314;EAW63315;EAW63316;NP_001167534;NP_001167535;NP_001167536;NP_001167537;NP_001167538;NP_056934;NP_075593;NP_075594;NP_075598;P11362;XP_006716366;XP_006716367;XP_006716368;XP_006716369;XP_006716370;XP_006716371;XP_006716372;XP_006716373;XP_006716374;XP_006716375;XP_006716376;XP_006716377 Hs.264887 1651742;1662694;1673259;1743009;1743079;1775191;1794756;2113546;2118256;2118677;2129117;2191097;5015861;5015961;5020948;5022578;5022651;5037552;5110706;7184812;7185938 D10S16;D11S2921;D15S1477;D1S1423;D2S2823;D8S135;D8S2279;FGFR1_V35;G15900;G35510;GDB:235795;GDB:251744;MARC_14569-14570:1009480763:3;PMC55319P1;RH16447;RH48951;RH70870;RH78260;SHGC-32099;SHGC-37155 BFGFR;CD331;CEK;FGFBR;FGFR-1;FLG;FLJ99988;FLT-2;FLT2;HBGFR;HH2;HRTFDS;KAL2;N-SAM;OGD;bFGF-R-1 FGFR1/PLAG1 fusion;FMS-like tyrosine kinase 2;OTTHUMP00000190874;OTTHUMP00000190875;OTTHUMP00000190876;OTTHUMP00000190877;OTTHUMP00000190879;OTTHUMP00000190880;OTTHUMP00000190881;OTTHUMP00000190885;basic fibroblast growth factor receptor 1;fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome);fms-related tyrosine kinase 2;heparin-binding growth factor receptor;hydroxyaryl-protein kinase;proto-oncogene c-Fgr;soluble FGFR1 variant 1;soluble FGFR1 variant 2 2314765;2314776 GLUCO100_H;GLUCO101_H APPROVED protein-coding ENSG00000077782 HGNC:3688 00634 101600;123150;136350;147950;166250;190440;615465 REVIEWED 1313011 FGFR1OP FGFR1 oncogene partner This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013] 6 6 6 q27 168155162 168196395 + 167412805 167458064 + 166999317 167042418 + 6480464 10373756;11076968;11689702;12221128;12477932;12852856;12969958;14574404;14654843;15144186;15489334;16314388;16462731;16690081;17540176;17888034;18587394;18782753;19068216;19156129;20237496;20360068;20379614;20526339;20570966;21139048;21841780;21900206;22990118;23554904;23850713;7790358;9949182 11116 B4DH64;O95684 ABBA01033435;AJ420472;AK289846;AK294950;AK312791;AMYH02014974;AMYH02014975;BC011902;BC037785;BU625682;CH471051;DC418208;FB749996;NM_001278690;NM_007045;NM_194429;Y18046;Z94721 AAH11902;AAH37785;ABM83963;ABM87277;BAF82535;BAG35652;BAG58025;CAA77020;CAT02177;EAW47509;EAW47510;NP_001265619;NP_008976;NP_919410;O95684 Hs.487175 1655925;1696338;1697260;2108095 FGFR1OP_7994;RH102124;SHGC-77766;STS-N39149 FOP OTTHUMP00000017612;OTTHUMP00000017613;fibroblast growth factor receptor 1 oncogene partner APPROVED protein-coding ENSG00000213066 HGNC:17012 10392 605392 REVIEWED 1348205 FGFR1OP2 FGFR1 oncogene partner 2 ENCODES a protein that exhibits protein homodimerization activity (inferred); INVOLVED IN wound healing (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); cytosol (inferred); INTERACTS WITH amiodarone; arsenous acid; benzo[a]pyrene diol epoxide I 12 12 12 p11.23 32237461 32265742 + 27091305 27119581 + 26938372 26966648 + 6480464;8554872 11042152;12477932;14702039;15034873;16344560;16946300;18782753;19156129;19322201;19615732;19959814;20734064;21139048;21283824;22266860;22880093;22939629;23455922;24250222;24255178;24816145 26127 F5GX47;Q9NVK5 ABBA01068042;AC024093;AC024896;AF086411;AF161472;AK001534;AK094888;AL117545;AL117608;AMYH02026241;AY506561;BC032143;BI829470;CH471094;CS185533;DA388639;NM_001171887;NM_001171888;NM_015633 AAF29087;AAH32143;AAR91611;BAA91745;CAB56012;CAJ42714;EAW96540;EAW96541;NP_001165358;NP_001165359;NP_056448;Q9NVK5 Hs.591162 1661401;1690069;1690147;1720043;1720065;1725975;1725991;2125552;5121597 G62316;G62386;RH123773;RH123818;RH44763;RH80150;RH93010;SHGC-56536;SHGC-57928 DKFZp564O1863;DKFZp586C1423;FLJ37569;HSPC123-like;WIT3.0 OTTHUMP00000240462;OTTHUMP00000240464;OTTHUMP00000240465;fibroblast growth factor receptor 1 oncogene partner 2;wound inducible transcript 3.0 protein-coding ENSG00000111790 HGNC:23098 10589 608858 VALIDATED 6481452 FGFR1OP2P1 FGFR1 oncogene partner 2 pseudogene 1 13 13 27479625 27479913 + 26905488 26905776 + 100873883 ABBA01007921;AL160035;AMYH02027741;NG_032350 pseudo HGNC:39706 INFERRED 736865 FGFR2 fibroblast growth factor receptor 2 The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009] 10 10 10 q26 116970097 117089799 - 123237844 123357972 - 121478330 121598458 - 1580863;704404;2289657;2289658;2289660;2289664;2289728;2289733;2289845;2289862;2289084;2289746;2289086;2301188;2301190;2301189;2301192;2301194;2301193;2301191;6480621;6480464;6480624;6480629;6480630;6480631;6484113;6907045;7240710;7394846;8547743;8554872;8699517 10602477;11069376;11170144;11593393;12111699;14695195;16158432;16969861;17243131;17306351;17482184;17525745;17529967;17529973;18247426;18285324;18552176;18785201;19610084;19624690;20640597;21397175;7668257;9018118;9285567 10196476;10394936;10574673;10579907;10618369;10626794;10712195;10751172;10830168;10945669;10950949;10951518;11069186;11173845;11292657;11294897;11325814;11353842;11380921;11390973;11493535;11556600;11693202;11759058;11781872;11856867;11876253;11923311;11937263;12000365;12032146;12072807;12122441;12162872;12168799;12373339;12393912;12477932;12482414;12493773;12529371;12591959;12608893;12618336;12648559;12684685;12684693;12692135;12893942;1309608;1313574;1380281;1400433;14559809;14624010;14732692;15069536;15105428;15146197;15190072;15206560;15229180;15282208;15389579;15489334;15516981;15523492;15561780;15602758;15618886;15622262;15629145;15632068;15643506;15728256;15796961;1582255;15829502;15840724;15863034;15930103;15931389;16061565;16091423;16141466;16188231;16210019;16216128;16219767;16365308;16373332;16384934;16385451;16391783;16410617;16418739;16440883;1647213;1648704;16501574;1652059;16597614;16603716;16709412;1674718;16807244;16842598;16844695;1697263;16984257;17133345;17189145;17251833;17264867;17343269;17414280;17449949;17458890;17459342;17471512;17512901;17525264;17537644;17545628;17593825;17622301;17682060;17692400;17699848;17760502;17803937;17850625;17944804;17953372;17959718;17981115;17997823;18029348;18049087;18056630;18216705;18315732;18337450;18355772;18373495;18374639;18381441;18387281;18391499;18393251;18437204;1846048;18462018;18483326;18563556;18573884;18593464;18629881;18636142;18671283;18726952;18757403;18767044;18804962;18813210;18829480;18829569;18840094;18845558;18973230;19028704;19060208;19094228;19095219;19103595;19106113;19111446;19147536;19211868;19212647;19223389;19224135;19232126;19243295;19277121;19285943;19287982;19330030;19351817;19362549;19403560;19434818;19453261;19469636;19497954;19500394;19509166;19536173;19582883;19590514;19608737;19617217;19656774;19728793;19735729;19789366;19812598;19822079;19843670;19856316;19861516;19923290;19937600;19953087;20043066;20054709;20056625;20093481;20106510;20124286;20145138;20163525;20193855;20214895;20237344;20300826;20301368;20301533;20301592;20301628;20348248;20364400;20379614;20388777;20410112;20417875;20453838;20502973;20538960;20554749;20605201;20620021;20634891;20635358;20664043;20677155;20717167;20798558;20809772;20838624;20844240;20853316;20856019;20872241;20957671;20959865;21048031;21060860;21152424;21160077;21173787;21263130;21285871;21329481;21382839;21412257;21451043;21464042;21527526;21596750;21625213;21725289;2172978;21745712;21767389;21822685;21832049;21838531;21928350;21957444;21988832;21990352;21996728;22006548;22048896;22144180;22195012;22240789;22244757;22287734;22345151;22355256;22374580;22383975;22387015;22404656;22440254;22440694;22495904;22627435;22661218;22665975;22726438;22731611;22752927;22778155;22926736;22951594;22961180;22988296;23027129;23060048;23071632;23124475;23142580;23143756;23169889;23184080;23225170;23263486;23300780;23300950;23325524;23348274;23354978;23393200;23431754;23444225;23493349;23527311;23532954;23535729;23545898;23546041;23552627;23564461;23620752;23640291;23672191;23674849;23754559;2377625;23786770;23867503;23906837;23908597;23913723;24004862;24043118;24054997;24105470;24122810;24125968;24143190;24265722;24300289;24306956;24385678;24405590;24440983;24445144;24457912;24518603;24657306;24747911;24776567;24837095;24928000;7528517;7581378;7655462;7687739;7719333;7719344;7719345;7866434;7874170;7987400;7999363;8188211;8355693;8386828;8417497;8434615;8528214;8576175;8644708;8663044;8673103;8676562;8696350;8889548;8946174;8956050;8958319;9002682;9150725;9152842;9212826;9266968;9300181;9385368;9521581;9582367;9585583;9677057;9693549;9714439;9719378 2263 D2CGD1;D3DRD5;E7EVR7;H7BXU9;H7C265;P21802;S4R381;S4R3B2 AB030073;AB030074;AB030075;AB030076;AB030077;AB030078;AB084153;AB821309;ABBA01062862;AC009988;AF097340;AF097341;AF097353;AF097354;AF169399;AF360695;AF487553;AK026508;AK294026;AK308621;AMYH02023938;AMYH02023939;AMYH02023940;BC037338;BC039243;BC096749;CB305736;CH471066;CN345547;CS173036;CX873387;DQ493927;EF057068;EU826598;EU826599;EU826600;EU826601;HM437239;KF455288;L49237;L49238;L49239;L49240;L49241;L49242;M55614;M80634;M87770;M87771;M87772;M97193;NG_012449;NM_000141;NM_001144913;NM_001144914;NM_001144915;NM_001144916;NM_001144917;NM_001144918;NM_001144919;NM_022970;NM_023029;NR_073009;S40853;S40858;S41878;S82438;U11814;X52832;X56191;XM_006717708;XM_006717709;XM_006717710;XM_006717711;XM_006717712;XM_006717713;Y17131;Z71929 AAA36147;AAA52449;AAA59470;AAA59471;AAA59472;AAA61188;AAA68514;AAB19319;AAB19320;AAB19323;AAC41933;AAC41934;AAC41935;AAC41936;AAC41937;AAC41938;AAD14392;AAD31560;AAD31561;AAD31562;AAD31565;AAD31567;AAF43273;AAF43274;AAH39243;AAK94205;AAK94206;AAK94207;AAK94208;AAK94209;AAM74056;ABE96832;ABO25744;ACF47634;ACF47635;ACF47636;ACF47637;ADN43070;BAA89296;BAA89297;BAA89298;BAA89299;BAA89300;BAA89301;BAC45037;BAG57383;BAO19692;CAA37014;CAA39654;CAA76643;CAA96492;CAJ33699;EAW49338;EAW49339;EAW49340;EAW49341;EAW49342;EAW49343;EAW49344;EAW49345;EAW49346;EAW49347;EAW49348;EAW49349;EAW49350;EAW49351;EAW49352;EAW49353;EAW49354;EAW49355;EAW49356;EAW49357;EAW49358;EAW49359;EAW49360;NP_000132;NP_001138385;NP_001138386;NP_001138387;NP_001138388;NP_001138389;NP_001138390;NP_001138391;NP_075259;NP_075418;P21802;XP_006717771;XP_006717772;XP_006717773;XP_006717774;XP_006717775;XP_006717776 Hs.533683 1334640;1648572;1655322;1658640;1673751;1719863;1742231;1744189;1772164;1793198;1850507;1851225;2106791;2108769;2113956;2174883;5015881;5017170;5091517;5109281;5117428;5117430 D10S1483;D10S2143;D10S2163;D1S1425;FGFR2;FGFR2_647.2;G15912;G17445;GDB:193861;GDB:335751;GDB:435442;GDB:554771;GDB:554776;L29953;PMC20217P1;RH11106;RH123626;RH17739;RH66427;SHGC-16531;UniSTS:464672;WI-16392 BBDS;BEK;BFR-1;CD332;CEK3;CFD1;ECT1;FGFR-2;FLJ98662;JWS;K-SAM;KGFR;TK14;TK25 BEK fibroblast growth factor receptor;FGF receptor;FGFR2-AHCYL1 fusion kinase protein;OTTHUMP00000020621;OTTHUMP00000020623;OTTHUMP00000020624;OTTHUMP00000020625;OTTHUMP00000020626;OTTHUMP00000020627;OTTHUMP00000020628;OTTHUMP00000020629;OTTHUMP00000020630;OTTHUMP00000020631;OTTHUMP00000020632;bacteria-expressed kinase;fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome);hydroxyaryl-protein kinase;keratinocyte growth factor receptor;protein tyrosine kinase, receptor like 14;soluble FGFR4 variant 4 APPROVED protein-coding ENSG00000066468 HGNC:3689 01492 101200;101400;101600;123150;123500;123790;137215;149730;176943;207410;609579;613659;614592 REVIEWED 733044 FGFR3 fibroblast growth factor receptor 3 This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009] 4 4 4 p16.3 1707555 1723113 + 1795039 1810599 + 1793299 1808872 + 1580863;704404;1598937;2289863;2289865;2289866;2289868;2289864;2289867;2301222;2301225;2301223;2301224;6480464;6907045;7240710;8655565;8554872;8699517 10073901;10471491;11020217;11114733;11314002;11329138;11466624;18072261;18166262;18231634;18413799;8078586 10053006;10094188;10215410;10360392;10360393;10360402;10361991;10395236;10425034;10574949;10579907;10648414;10652257;10671061;10751172;10777366;10918587;11030304;11055896;11134040;11294897;11325814;11350938;11424131;11426459;11529856;11556601;11703096;11731410;11746040;11754059;11759058;11827956;11839738;11906172;11940572;12009017;12032146;12048679;12244095;12297284;12368157;12368206;12373339;12424440;12433679;12461689;12477932;12576423;12624096;12626508;12637327;12664252;12707965;12764678;12815063;12817007;12833394;12921294;12929929;14520460;14551213;14562121;14606518;14667819;14678961;14715624;14732692;14751560;15026322;15105428;15221641;15241680;15292251;15322115;15517832;15558020;15701828;15748888;15772091;15788896;15869706;15880580;15915095;15940250;16061860;16091423;16149130;16169070;16210019;16274647;16278391;16278395;16288035;16365308;16384584;16410555;16412606;16434832;16467200;16501574;16532037;16570285;16597617;16634636;1664411;16685373;16778799;16841094;16849642;16877735;16885334;17033969;17070479;17114345;17240035;17255960;17256796;17320202;17343269;17375526;17384684;17392824;17414280;17507011;17509076;17554105;17561467;17585316;17602067;17621485;17624273;17668422;17683901;17785202;17803960;17867592;17867603;17875876;17950653;18000903;18000976;18036184;18199430;18216705;18231572;18336810;1847508;18485666;18503601;18528286;18567530;18583390;18584939;18642369;18677770;18718050;18818193;18923003;18945538;19070887;19073250;19076977;19088846;19156776;19215249;19255125;19286672;19287463;19327639;19351817;19377444;19381019;19404844;19407216;19449410;19449430;19453261;19551630;19594619;19621447;19694823;19722178;19728793;19729838;19752524;19761767;19812598;19821490;19837276;19838370;19843069;19843843;19845664;19855393;19863427;19888223;19898608;19901323;19909015;20197130;20234367;20301331;20301540;20301588;20301628;20301650;20348956;20393505;20404005;20420824;20538960;20539070;20542753;20634891;20643727;20646825;20665023;20673820;20711586;20713021;20717167;20824703;20890030;20972438;21048031;21072204;21116113;21116115;21119106;21152424;21225389;21264819;21273290;21273588;21324899;21356388;21383697;21388956;21403567;21451043;21459758;21487019;21521775;21536014;21547910;21577207;21683397;21779335;21792889;21815251;21894939;22038757;22045636;22099989;22145492;22161110;22188534;22203473;22285006;22329352;22375084;22401680;22401682;22417847;22422578;22448597;2247464;22529939;22730329;22777346;22837387;22869148;22903874;22939624;23019225;23044018;23113306;23142690;23165795;23175443;23232572;23272046;23287481;23298836;23325524;23352301;23393200;23397188;23409016;23437153;23448340;23468956;23649205;23650517;23661334;23664540;23679838;23696738;23726269;23727984;23744832;23778527;23786770;23823235;23842048;23902722;23972473;23991606;24038754;24075385;24120763;24163127;24295726;24329908;24360661;24452392;24722188;24804818;25010350;7493034;7495869;7543024;7647778;7649548;7657660;7670477;7690989;7758520;7773297;7847369;7913883;7923141;8012397;8012398;8081365;8428519;8530501;8576175;8589686;8589699;8599370;8599935;8601314;8626374;8663044;8841188;8845844;8858131;9042914;9045692;9107244;9126476;9142922;9207791;9212826;9279753;9452043;9525367;9580776;9585583;9672519;9677066;9790257;9842995;9843049;9950339 2261 F8W9L4;P22607;Q0IJ44;Q96T34;X5D2G8 AB209441;ABBA01029527;ABBA01029528;AC016773;AF238374;AF245114;AF369211;AF369212;AF369213;AF487554;AK308936;AMYH02008591;AMYH02008592;AW204106;AY768549;BC121175;BC128610;BC153824;CH471131;DR003490;HM244683;KJ534834;KJ534974;KJ535004;M58051;M59374;M64347;NG_012632;NM_000142;NM_001163213;NM_022965;S76733;U22410;X84939;XM_006713868;XM_006713869;XM_006713870;XM_006713871;XM_006713872;XM_006713873 AAA52450;AAA58470;AAA63209;AAA67781;AAB33323;AAF63380;AAF97749;AAI21176;AAI28611;AAI53825;AAI66684;AAK54727;AAK54728;AAK54729;AAM22078;AAM22079;AAU89726;ADM64307;AHW56474;AHW56614;AHW56643;BAD92678;CAA59334;EAW82562;EAW82563;EAW82564;EAW82565;EAW82566;EAW82567;EAW82568;NP_000133;NP_001156685;NP_075254;P22607;XP_006713931;XP_006713932;XP_006713933;XP_006713934;XP_006713935;XP_006713936 Hs.1420 1688452;1741957;1744453;1744929;1744967;1745895;2131579;2144502;5117260;5491749 FGFR3;G15851;GDB:187013;GDB:454672;GDB:454675;GDB:581559;GDB:585477;GDB:681581;RH18137;WI-15208 ACH;CD333;CEK2;FGFR-3;HSFGFR3EX;JTK4 OTTHUMP00000149958;OTTHUMP00000149959;OTTHUMP00000217007;achondroplasia, thanatophoric dwarfism;fibroblast growth factor receptor 3 variant 4;hydroxyaryl-protein kinase;tyrosine kinase JTK4 APPROVED protein-coding ENSG00000068078 HGNC:3690 00624 100800;109800;114500;134934;146000;149730;162900;187600;187601;273300;602849;603956;610474;612247 REVIEWED 1347116 FGFR3P1 fibroblast growth factor receptor 3 pseudogene 1 6 6 6 p21.33 32947856 32948167 + 31345494 31345805 + 31377717 31378028 + 8307783;8864177;9098453 100462812 ABBA01038073;AL669854;AL671883;AL845443;AMYH02013449;BX248310;CR318637;L25647;NG_025930;U49177 D84394.2;FGFR3P;FGFR6 APPROVED pseudo HGNC:21664 INFERRED 3051025 FGFR3P2 fibroblast growth factor receptor 3 pseudogene 2 11 11 11 92788500 92788990 - 95490118 95490608 - 95756954 95757444 - 100462815 ABBA01040009;AMYH02025385;AP001877;NG_021799 pseudo HGNC:37947 INFERRED 3051024 FGFR3P3 fibroblast growth factor receptor 3 pseudogene 3 20 20 20 6272150 6272565 + 6200977 6201392 + 6220330 6220745 + 100462816 ABBA01053902;AL109618;AMYH02036659;NG_021985 pseudo HGNC:37948 INFERRED 3051031 FGFR3P4 fibroblast growth factor receptor 3 pseudogene 4 3 3 3 175821377 175822148 - 177418089 177418860 - 177700301 177701072 - 100420833 ABBA01058566;AC026355;AMYH02008205;NG_022229 pseudo HGNC:37949 INFERRED 3028766 FGFR3P5 fibroblast growth factor receptor 3 pseudogene 5 6 16 16 66851761 66852352 - 34466829 34467420 - 35232458 35233049 - 100420952 ABBA01002118;AC023824;AMYH02031953;NG_022502 pseudo HGNC:37950 INFERRED 3051029 FGFR3P6 fibroblast growth factor receptor 3 pseudogene 6 1 1 1 220579435 220579983 + 247283036 247283584 + 247119734 247120282 + 100420881 ABBA01031781;AL390728;AMYH02003131;NG_022833 pseudo HGNC:37951 INFERRED 736644 FGFR4 fibroblast growth factor receptor 4 The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. [provided by RefSeq, Jul 2008] 5 5 5 q35.2 171976184 171987401 - 176513906 176525143 + 177086905 177098126 + 1580863;6480464;6484113;6907045 10336501;10525310;10579907;10631118;10691305;10736564;10751172;10918587;11271786;11294897;11350938;11549253;11759058;11781352;11830541;11839738;11940572;11958417;11981041;12244095;12373339;12477932;12576423;12626508;12637327;12642581;12815007;12817007;1322355;1377018;1385111;14534538;14551213;14601095;14710228;15070963;15075241;15231874;15322115;15340161;15448004;15489334;15564323;15750181;16012724;16061909;16091423;16109476;16210019;16365308;16597617;16721364;16822847;17084840;1709094;17203973;1720539;17487277;17519899;17599042;17623664;17664243;18029348;18070145;18310279;18315732;18349267;18480409;18487077;18593464;18593907;18670643;18756523;18762813;18949411;19008009;19237543;19240166;19296538;19407855;19500394;19730683;19809159;19918264;19946327;20018895;20066896;20127014;20147743;20453000;20565774;20634891;20638838;20644561;20657013;20660043;20691689;20798051;20844967;20876804;20881960;21037081;21109934;21203561;21349172;21412156;21616061;21622724;21625079;21625954;21653700;21656577;21827571;21882254;22034009;22174695;22241720;22271411;22313031;22419713;22439738;22442730;2247464;22535390;22573348;22648271;22696188;22703881;22888118;22971346;22986737;23000965;23206452;23226373;23344261;23393200;23455922;23481570;23524567;23836671;23901234;23943801;24126887;24200957;24239227;24248544;24288432;24324363;24381107;24410190;24416997;24503538;24565842;7518429;7543024;7657660;7680645;7690989;8099571;8125298;8530375;8576110;8626374;8663044;9168198;9211733;9212826;9457674 2264 AAB25788;B5A964;D6R9V0;D6RG06;D6RJD4;E7EWF4;H0Y9P2;J3KPQ0;P22455 AB209631;ABBA01033473;AC027314;AF202063;AF359241;AF359246;AF487555;AK225280;AK225909;AK301169;AMYH02012826;BC011847;BF307233;BM453707;CH471195;EF571596;EU826602;EU826603;JN007471;JN007472;JN007473;JN007474;JN007475;JN007476;JN007477;JN007478;JN007479;JN007480;JN007481;JN007482;L03840;M59373;NG_012067;NM_001291980;NM_002011;NM_022963;NM_213647;X57205;X68559;XM_005265837;XM_005265838;XR_427801;Y13901 AAA63208;AAB25788;AAB59389;AAF27432;AAH11847;AAK43714;AAK51435;AAM13666;ABM84384;ABM87347;ABQ01235;ACF47638;ACF47639;AEO19712;AEO19713;AEO19714;AEO19715;AEO19716;AEO19717;AEO19718;AEO19719;AEO19720;AEO19721;AEO19722;AEO19723;BAD92868;BAG62757;CAA40490;CAA74200;CAB75718;EAW85034;EAW85035;EAW85036;EAW85037;NP_001278909;NP_002002;NP_075252;NP_998812;P22455;XP_005265894;XP_005265895 Hs.165950 2162899 STS-L03840 CD334;FGFR-4;JTK2;MGC20292;TKF OTTHUMP00000161429;OTTHUMP00000161430;OTTHUMP00000223539;OTTHUMP00000223541;hydroxyaryl-protein kinase;protein-tyrosine kinase;tyrosine kinase related to fibroblast growth factor receptor;tyrosylprotein kinase APPROVED protein-coding ENSG00000160867 HGNC:3691 00625 134935 REVIEWED 1343286 FGFR6 fibroblast growth factor receptor 6 8307783;8864177;9098453 2265 L25647;U49177 protein-coding HGNC:3692 1354107 FGFRL1 fibroblast growth factor receptor-like 1 The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p16 943223 957920 + 1004712 1020686 + 1011822 1026898 + 1580863;6480464 11031111;11267671;11418238;12477932;12813049;12975309;14702039;15340161;15489334;16019430;16273302;18061161;19056490;19913121;19920134;20024584;20453000;20628086;20851884;21044961;21616146;23251661;23775577;24249740;8125298 53834 A0PJ49;D6RBN8;D6REM7;Q8N441 ABBA01019352;ABBA01019353;AC019103;AF279689;AF312678;AJ277437;AK000530;AK022597;AK172829;AK225486;AK314365;AMYH02008565;AMYH02008566;AMYH02008567;AMYH02008568;AV707425;AY358303;BC002537;BC013955;BC015228;BC036769;BQ689625;CH471131;NM_001004356;NM_001004358;NM_021923 AAH15228;AAH36769;AAK15273;AAK26742;AAQ88670;ABM83343;ABM86557;BAA91234;BAD18794;BAG36996;CAC14171;EAW82615;NP_001004356;NP_001004358;NP_068742;Q8N441 Hs.193326 1669559;1674808 SHGC-67280;STS-W85782 FGFR-5;FGFR5;FHFR FGF homologous factor receptor;FGF receptor-like protein 1;FGFR-like protein;OTTHUMP00000147526;OTTHUMP00000217470;OTTHUMP00000217471;OTTHUMP00000217472;fibroblast growth factor receptor 5 APPROVED protein-coding ENSG00000127418 HGNC:3693 16163 605830 REVIEWED 731481 FGG fibrinogen gamma chain The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 4 4 4 q28 152856249 152864865 - 155525286 155533902 - 154604134 154612750 - 1599810;737710;1580863;2312416;5688760;6480464;5688769;5688770;5688761;6484113;7175292;6907045;7240710;8699517;8554872 11001903;17054587;17951283;18278190;19954227;21685370;22014850;7974333 10074346;10391209;10467729;10605720;10747940;10828988;10903502;11001902;11073102;11307817;11435303;11562340;11744726;11748101;11986213;11986220;12356313;12477932;12501189;12617173;12624729;12663453;12706644;12871494;12900415;1421174;1429662;1455400;14691567;14760718;14764520;15217804;15284111;15304042;15311153;15489334;15583736;15632207;15641787;15671034;15735812;15739255;15773976;15795540;16005629;16051597;16113784;16141000;16144795;16263699;16335952;16363805;16420584;16502470;16524883;16525568;16581250;16614319;16705085;16706972;1685103;16928957;16940416;17018627;17241179;17263791;17264959;1733971;17403086;1744509;17445871;17543500;17565664;17591786;17643375;17650452;17688324;17827388;17849064;17854317;17883696;17938819;17949478;17956865;18000621;18202324;18208536;18239174;18331453;18567199;18676163;18690352;18772067;18779330;18832913;18842294;18848323;1892842;18974842;18983496;18989528;19034331;19056867;19059206;19122172;19190816;19193866;19332210;19404553;19412134;19492150;19515723;19650644;19687509;19913121;19923982;19948975;20031577;20059469;20128871;20167083;20237496;20508898;20589319;20628086;20666993;20709368;2071611;20838743;20981788;21057694;21103663;21174007;2133219;21502573;21694469;21757653;21980494;22078561;22437918;22463367;22489912;2257302;22760446;22836683;23036532;23056168;23061815;2328317;23306717;23348147;23385359;23422752;23492915;23645504;23650146;23750785;23852822;23877568;23969696;23990470;23995838;24011387;24040290;24337577;24556703;2496144;25027693;2665853;2738036;2742826;2819242;2971042;2971046;2976995;2990550;3160702;3337908;3563970;3708159;5084810;6091742;6092346;6281794;6325435;6326808;6383194;6451630;6575389;6575689;6592597;6688357;6689067;6777381;6860649;6933547;6957371;7306501;7356959;7499336;7822297;7841300;7878009;8080993;8100742;8384496;8400260;8404605;8470043;8566791;8756701;8905624;8910396;9016719;9028318;9207064;9333233;936108;9628725;9712878 2266 C9JC84;C9JEU5;C9JPQ9;C9JU00;P02679 AA936960;ABBA01070158;AC107385;AF350254;AI808530;AK289422;AK290824;AL531173;AMYH02010334;BC007044;BC021674;BG567044;BT007081;BX538098;CH471056;JB978086;K02569;M10014;NG_008834;NM_000509;NM_021870;U36503;X00086;X51473 AAA52430;AAA52431;AAB59530;AAB59531;AAH07044;AAH21674;AAK19751;AAK19752;AAP35744;BAF82111;BAF83513;CAA24944;CAA35837;CAD98014;CDL78904;EAX04905;EAX04906;EAX04907;EAX04908;EAX04909;EAX04910;EAX04911;EAX04912;EAX04913;EAX04914;EAX04915;EAX04916;EAX04917;EAX04918;EAX04919;EAX04920;EAX04921;EAX04922;EAX04923;NP_000500;NP_068656;P02679 Hs.727584 1648143;1666044;1771182;5491380 FGG;SGC35532;SHGC-59537;SHGC-59771 OTTHUMP00000197057;OTTHUMP00000197058;OTTHUMP00000197059;OTTHUMP00000197060;fibrinogen, gamma polypeptide APPROVED protein-coding ENSG00000171557 HGNC:3694 00621 134850;202400;616004 REVIEWED 1605365 FGGY FGGY carbohydrate kinase domain containing This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 1 p32.1 58050760 58517212 + 59762625 60228402 + 59296953 59762730 + 6480464;8554872 12477932;14702039;16344560;17671248;19193627;19464757;19875103;19922123;19922138;20001489;20379614;20800603;21507922;22215998;23251661;24250222 55277 C9J015;F2Z2V1;J3QKV9;Q96C11 AA830864;ABBA01074648;ABBA01074649;ABBA01074650;ABBA01074651;AC093424;AK001848;AK022237;AK054842;AK090568;AK315649;AL035416;AL390234;AL713859;AL954338;AMYH02001102;AMYH02001103;AMYH02001104;AMYH02001105;AMYH02001106;BC000610;BC014947;BU630162;BX119322;BX647626;CH471059;DA072156;DA969344;NG_030039;NM_001113411;NM_001244714;NM_001278224;NM_018291;NR_103473 AAH14947;BAA91940;BAB13993;BAG38015;BAG51432;BAG52187;EAX06619;EAX06620;EAX06621;EAX06622;EAX06623;EAX06624;NP_001106882;NP_001231643;NP_001265153;NP_060761;Q96C11 Hs.444301 1338507;1651163;1719569;1723681;1724941;1749267;1749773;1755973;1757009;1757617;1767059;1781454;2044712;2134862;2173173;2173175;5037552 D1S1577;D1S2801;D8S2279;REN93416;RH119237;RH123084;RH123688;RH36480;SHGC-110950;SHGC-111522;SHGC-112096;SHGC-142791;SHGC-144366;SHGC-145443;SHGC-152720;SHGC-74899;STS-N33945 FLJ10986;RP11-242B9.1 FGGY carbohydrate kinase domain-containing protein;OTTHUMP00000010078;OTTHUMP00000010081;OTTHUMP00000010082;OTTHUMP00000202071 APPROVED protein-coding ENSG00000172456 HGNC:25610 07721 611370 REVIEWED 737041 FGL1 fibrinogen-like 1 Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p22 16687655 16718923 - 17721894 17767874 - 17864385 17910365 - 6480464 11470158;12477932;12624729;14981537;15063762;15489334;16996032;17805225;18039467;19304666;19817957;19913121;20379614;20628086;20800603;21103663;21618590;21988832;23792031;24084006;8125298;8390249 2267 Q08830 ABBA01021579;ABBA01021580;AC087273;AF042354;AF168954;AK225616;AK225619;AK289448;AL514837;AL531132;AMYH02017540;AMYH02017541;AX772838;BC007047;BG565379;BG566131;BG567956;BG618053;BT006635;CH471080;D14446;D87342;DQ086826;NM_004467;NM_147203;NM_201552;NM_201553;XM_005273450 AAH07047;AAM88911;AAP35281;AAY68216;BAA03336;BAB70690;BAF82137;CAE06268;EAW63799;EAW63800;EAW63801;EAW63802;EAW63803;NP_004458;NP_671736;NP_963846;NP_963847;Q08830;XP_005273507 Hs.491143 1654904;1686138;1778565;1854749;2115485;2176107 D8S1611;RH11590;RH75448;SHGC-33312;STS-AA041306;WI-17167 HFREP1;HP-041;LFIRE-1;LFIRE1;MGC12455 OTTHUMP00000122468;OTTHUMP00000224774;OTTHUMP00000224775;OTTHUMP00000224776;OTTHUMP00000224916;fibrinogen-like protein 1;fibronigen-like protein 1;hepassocin;hepatocellular carcinoma-related sequence;hepatocyte-derived fibrinogen-related protein 1;liver fibrinogen-related protein 1 APPROVED protein-coding ENSG00000104760 HGNC:3695 09312 605776 REVIEWED 1347654 FGL2 fibrinogen-like 2 The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 71523351 71529814 - 76822688 76829150 - 77193371 77199833 - 1580863;6480464;8554872 11170750;12477932;12624729;12690205;15489334;15490304;15905589;1602151;16335952;16344560;16437596;18390877;18801734;18932275;19056867;19423547;19590927;20438701;22082274;22886967;22925132;22983266;23195010;23333304;23383108;23898208;24287641;7642106;8125298;9647217 10875 A4D1B8;Q14314 ABBA01058001;AC007000;AF104015;AF468959;AK222999;AK312672;AMYH02016096;BC017813;BC033820;BC073986;CH236949;CH471091;DB247183;NM_006682;Z36531 AAD10825;AAH17813;AAH33820;AAH73986;AAL68855;ACT64483;ACT64484;BAD96719;BAG35554;CAA85298;EAL24202;EAW77045;NP_006673;Q14314 Hs.520989 1851320;1855668;2133708;2134752;2142340;2154119;2159953;2178080;5022450;5093722 A009V32;D10S275;D7S2907;G32885;RH17500;RH79020;SGC34766;STS-F04943;STS-R61236;STS-Z36531 T49;pT49 OTTHUMP00000161268;fibrinogen-like protein 2;fibroleukin APPROVED protein-coding ENSG00000127951 HGNC:3696 16098 605351 REVIEWED 733253 FGR FGR proto-oncogene, Src family tyrosine kinase This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p36.2-p36.1 26334465 26357390 - 27938800 27961727 - 27612289 27635216 - 1580863;6480464;6484113;8554872 10066823;10080533;10229804;10358777;10527858;10702640;10739672;10973280;11071635;11162638;11526478;11546677;11672534;11744621;11823534;11928806;12096713;12244095;12387730;12387813;12435267;12468645;12473651;12477932;12482968;1339476;1373875;14702039;15094368;15098032;15190072;15459198;15489334;15536084;15561106;15707590;15723811;15919723;16273093;16344560;1652975;16710414;1690869;17164290;17845055;1826268;1847500;20056178;20098747;21300758;2154410;2181286;21890473;21963094;21988832;22745667;22939624;22974441;23000965;23131831;23867815;23896410;2581127;2852026;2995972;3003578;3023853;3275868;3330776;3922831;7515063;7519620;7565724;7678701;7721825;7726865;7812001;8313462;8327512;8603737;8612628;8753773;8805332;8824280;8867673;9208935 2268 P09769;P78453;Q5TGY6 ABBA01034984;AK125143;AK130188;AK301078;AL031729;AMYH02000602;AMYH02000603;BC064382;BI771758;BQ448283;BX495937;CH471059;CQ834776;DA139476;DA952771;DA960178;K03219;M12502;M19721;M19722;M27454;M63877;NM_001042729;NM_001042747;NM_005248;X52205;X52207;XM_006710452;Z13983;Z13989 AAA35679;AAA52451;AAA52452;AAA52762;AAA60585;AAH64382;BAH13403;CAA36457;CAH05603;EAX07748;EAX07749;EAX07750;NP_001036194;NP_001036212;NP_005239;P09769;XP_006710515 Hs.1422 1665327;1666452;1744639;2115295;2140321;2175511;2219086 FGR__5988;GDB:549146;SHGC-6996;SHGC-74489;SHGC-74509;SHGC-74510;UniSTS:24107 FLJ43153;MGC75096;SRC2;c-fgr;c-src2;p55-Fgr;p55c-fgr;p58-Fgr;p58c-fgr Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog;OTTHUMP00000003601;OTTHUMP00000003602;OTTHUMP00000003603;OTTHUMP00000003604;c-fgr protooncogene;c-src-2 proto-oncogene;feline Gardner-Rasheed sarcoma viral oncogene homolog;p55-c-fgr protein;proto-oncogene c-Fgr;proto-oncogene tyrosine-protein kinase FGR;tyrosine-protein kinase Fgr;v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog APPROVED protein-coding ENSG00000000938 HGNC:3697 01288 164940 REVIEWED 1350842 FGS1 FG syndrome 1 ASSOCIATED WITH Lujan Fryns syndrome (inferred); OHDO SYNDROME, X-LINKED (inferred); Opitz-Kaveggia syndrome (inferred) 7240710 9375929 2269 HGNC:3698 300895;305450;309520 1348240 FGS2 FG syndrome 2 ASSOCIATED WITH Opitz-Kaveggia syndrome (inferred) 7240710 11078572 2270 HGNC:3699 300321 1352068 FGS3 FG syndrome 3 ASSOCIATED WITH Opitz-Kaveggia syndrome (inferred) 7240710 12239712 93985 1337669 DXS1060 HGNC:15596 300406 735599 FH fumarate hydratase The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008] 1 1 1 q42.1 214915854 214938092 - 241660857 241683085 - 241497557 241519785 - 1598939;1580863;2306828;6480464;6907135;6907045;7240710;8554872;8699517 15937070;17211469;938457 11865300;12021453;12177782;12477932;12612654;12772087;14632190;15334541;15489334;15724016;16098467;16237213;16319128;16344560;16477632;16597677;16639410;16757530;16774737;16881969;17476294;17908262;17960613;18029348;18257390;18313410;18503824;18514489;18624398;18728283;18986479;19064571;19075141;19151755;19276158;19470762;19546378;19626040;19963135;20231875;20301430;20301679;20549362;20618355;20660115;20677014;20877624;21139048;21319273;21398687;21445611;21560188;21565611;21695080;21890473;21907923;21963094;22304920;22528940;22586326;22677546;22713448;22764886;22863883;22939629;23000965;23077236;23295344;23874603;24182348;24583282;24816145;2759092;3828494;4018793;434773;8200987;9635293;975868 2271 P07954 AA669797;ABBA01033250;AK312415;AL359764;AL606476;AMYH02003037;AW611924;BC003108;BC017444;BT009839;CH471098;DA129148;FO393423;M15502;NG_012338;NM_000143;U48857;U59309 AAA52483;AAB66354;AAD00071;AAH03108;AAH17444;AAP88841;ABW03809;BAG35325;EAW70090;EAW70091;EAW70092;EAW70093;NP_000134;P07954 Hs.592490 1689767;1753407;1769430;1852408;2108099;2179860 AFM214xe11;D1S258E;FH_8350;RH39631;RH64485;SHGC-107202 HLRCC;LRCC;MCL;MCUL1 OTTHUMP00000037573;fumarase;fumarate hydratase 1;fumarate hydratase, mitochondrial APPROVED protein-coding ENSG00000091483 HGNC:3700 00652 136850;143890;150800;606812 REVIEWED 1605889 FHAD1 forkhead-associated (FHA) phosphopeptide binding domain 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol; silicon dioxide; furan (ortholog) 1 1 1 p36.21 14056662 14207494 + 15573730 15724767 + 15247234 15398271 + 6480464;8554872 11572484;12477932;14702039;15489334;16344560;16710414;20379614 114827 B1AJZ9;H0Y3C6;H0Y5P0;H0Y605;H0YCR1;H0YE38;H0YEU3;Q5JYW1;Q5JYW6 AB067524;ABBA01004712;ABBA01004713;ABBA01004714;ABBA01004715;ABBA01004716;AK057963;AK093300;AK093883;AK096961;AK296920;AL031283;AL158174;AL391094;AL833342;AMYH02000354;AMYH02000355;AMYH02000356;AMYH02000357;AMYH02000358;AMYH02000359;BC015238;BC027293;BX641070;DA918616;NM_052929;XM_005245731;XM_006710315;XM_006710316;XM_006710317 B1AJZ9;BAB67830;BAC04126;BAC04242;BAC04913;BAG59474;NP_443161;XP_005245788;XP_006710378;XP_006710379;XP_006710380 Hs.659997 1691922;1733108;1760743 AL033610;D1S1435;SHGC-144266 DKFZp686G2134;DKFZp686P19183;FLJ31291;KIAA1937;RP3-467K16.1 FHA domain-containing protein 1;OTTHUMP00000235313;forkhead-associated domain-containing protein 1 protein-coding ENSG00000142621 HGNC:29408 PROVISIONAL 1604560 FHDC1 FH2 domain containing 1 INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cefaloridine (ortholog) 4 4 4 q31.3 151189210 151225925 + 153857265 153900848 + 152936347 152979696 + 6480464 11214970;14702039;15138637;16341674;17362836;23251661;8889549 85462 Q9C0D6 AB051514;ABBA01070128;ABBA01070129;AC093599;AK172734;AMYH02010315;BI766662;BQ082418;CH471056;NM_033393;T83061;W80711;XM_005263319;XM_006714393;XM_006714394 BAB21818;EAX04967;NP_203751;Q9C0D6;XP_005263376;XP_006714456;XP_006714457 Hs.132629 1663149;1665937;1851839;2118868;2162469;2174580;2179320;5016596 GDB:631802;RH12235;SHGC-34771;SHGC-36483;SHGC-50570;SHGC-51770;SHGC-59851;WI-18191 KIAA1727 FH2 domain-containing protein 1;OTTHUMP00000220256 protein-coding ENSG00000137460 HGNC:29363 13888 VALIDATED 1344220 FHIT fragile histidine triad This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] 3 3 3 p14.2 59748610 61250104 - 59735036 61237133 - 59749310 61251459 - 1302481;1580863;2289869;2289870;2289871;2289872;2289874;2289878;2289879;2289894;2289896;2289897;2289898;2289899;2289903;2289905;2289906;2301232;2301231;2301235;2301233;2298508;6480464;6907045;8554872 10530564;10873085;10930803;11751381;11839671;12231533;12379753;14670177;15154012;15574200;15591090;15705877;16115913;16608079;17164758;17467893;17539022;17548701;9462708;9569038;9671749 10706123;11085938;11731438;11768238;11788890;11809703;11891319;11902576;11915181;12007194;12048684;12057912;12067991;12090476;12119013;12169206;12177781;12353263;12362975;12419158;12452072;12477932;12483524;12529969;12627509;12697969;12698186;12800227;12833632;12839965;12890991;12893195;12926121;12964015;12969785;14566838;14569398;14630947;14660280;14675322;14702039;14719066;14719099;14760383;14991669;15007172;15026336;15044096;15060557;15073846;15080495;15080505;15182206;15219888;15231689;15246872;15313915;15328196;15361849;15384174;15480422;15489334;15489891;15569992;15633221;15674328;15798093;15835917;15902282;15906520;15929169;15935551;15949315;15998374;16189514;16217683;16231322;16242161;16344560;16359767;16513840;16533421;16570269;16698048;16699861;16733051;16739375;16740775;16763940;16773697;16864578;16963412;16990010;17029211;17037022;17119051;17137614;17142325;17143956;17328863;17348444;17359554;17373735;17374991;17380463;17382535;17393360;17562266;17596760;17609851;17671701;17694439;17712558;17846126;18006149;18029348;18038314;18077326;18091387;18097574;18162546;18221322;18247301;18299890;18319262;18338496;18338497;18367246;18378390;18426086;18476633;18494825;18517280;18567082;18595145;18608185;18618300;18690840;18821565;18953408;18985481;19004824;19096006;19130459;19240061;19267103;19286306;19339270;19401904;19414370;19418484;19419937;19434452;19452299;19502167;19620087;19621594;19622739;19728916;19730990;19751438;19760177;19913121;19931269;20060354;20060399;20082323;20083852;20083853;20095356;20125088;20306291;20379614;20399571;20417865;20435627;20458975;20510001;20552362;20606729;20622329;20628086;20689140;20690795;20814237;20864173;20864512;21095196;21182207;21223598;21241597;21258320;21404710;21557333;21617227;21668571;21679157;21685375;21711110;21830375;21870644;21928112;21988832;22315171;22379998;22393963;22419666;22425911;22578181;22613411;22747683;22760553;22766745;22843886;22932087;22952603;23019410;23049088;23102829;23131390;23209436;23404381;23470693;23724516;23736021;23780737;23797051;23897914;23929738;23944951;23947369;23969757;23991058;24223161;24370550;24556720;24654937;24722188;24729090;3864602;8598045;8640789;8661111;8794732;8824874;9012482;9261067;9290949;9323207;9366528;9537583;9576908;9583683;9824201 2272 E9PBZ0;P49789 ABBA01024348;ABBA01024349;ABBA01024350;ABBA01024351;ABBA01024352;ABBA01024353;ABBA01024354;ABBA01024355;ABBA01024356;ABBA01024357;ABBA01024358;ABBA01024359;ABBA01024360;ABBA01024361;ABBA01024362;ABBA01024363;ABBA01024364;ABBA01024365;AC093418;AC093556;AC096917;AC097357;AC098480;AC099536;AC099780;AC104164;AC132808;AC138071;AF023460;AF152363;AF152364;AF152365;AK127931;AK289824;AMYH02006902;AMYH02006903;AMYH02006904;AMYH02006905;AMYH02006906;AMYH02006907;AMYH02006908;AMYH02006909;AMYH02006910;AMYH02006911;AMYH02006912;AMYH02006913;AMYH02006914;AMYH02006915;AMYH02006916;AMYH02006917;AMYH02006918;AMYH02006919;AY625256;BC032336;BC057223;CH471055;DA239143;DQ120721;DQ416126;DQ666920;DQ666923;DQ768458;GN344061;KC876861;KC876862;KC876869;KC876877;KC876879;KC876884;KC876886;KF454922;KF510237;KF510238;KF510239;KF510240;KF510241;KF510242;KF510243;KF510244;KF510245;KJ534835;NG_007551;NM_001166243;NM_002012;U06118;U39799;U39800;U39801;U40401;U46922;U76263;U76264;U76265;U76266;U76267;U76268;U76269;U76270;U76271;U76272;U85047;U88866;XM_005264951;XM_005264952;XM_005264953;XM_006713027 AAA99013;AAB52539;AAB53793;AAB84098;AAH32336;AAT37530;AAZ23623;ABD93871;ABG02273;ABG02275;ABG81420;ABM82501;ABM85695;AHW56475;BAF82513;CAY55966;EAW65393;EAW65394;NP_001159715;NP_002003;P49789;XP_005265008;XP_005265009;XP_005265010;XP_006713090 Hs.655995 1336292;1336789;1338136;1652129;1652242;1657035;1668820;1705296;1705456;1706062;1706600;1706916;1715691;1719293;1720453;1720743;1728729;1728743;1731491;1731493;1734314;1738471;1749781;1761133;1769060;1771094;1772555;1776877;1784918;1850364;1852758;1852835;2081032;2111912;2111914;2111916;2111928;2111930;2112004;2112730;2112732;2112734;2112736;2112738;2112740;2112742;2113000;2113028;2113030;2113032;2113034;2113036;2113038;2113040;2113042;2113044;2113046;2113052;2113054;2113056;2113068;2113070;2113072;2113074;2113186;2113188;2113190;2113192;2113194;2113196;2113198;2113200;2113202;2118387;2127821;2144673;2148853;2154318;2166515;2171460;2183043;2183485;2185682;2187787;5014740;7184792;7186254 AFMA285ZB5;D17S610;D3S1234;D3S1300;D3S1480;D3S1481;D3S2757;D3S2977;D3S2984;D3S3136;D3S3155;D3S3356;D3S3367;D3S3378;D3S3424;D3S3631;D3S4091;D3S4092;D3S4093;D3S4102;D3S4103;D3S4260;D3S4430;D3S4431;D3S4433;D3S4434;D3S4436;D3S4437;D3S4438;D3S4459;D3S4460E;D3S4461E;D3S4462E;D3S4463E;D3S4464E;D3S4465E;D3S4466E;D3S4467E;D3S4468E;D3S4469E;D3S4471;D3S4472;D3S4473;D3S4474;D3S4477;D3S4478;D3S4479;D3S4481;D3S4482;D3S4483;D3S4485;D3S4486;D3S4487;D3S4488;D3S4489;D3S4490;G49403;G49406;G59179;G59345;G69476;L18045;REN111724;RH119292;RH123369;RH16423;RH36473;RH46243;SHGC-111527;SHGC-13229;SHGC-145137;SHGC-33999;SHGC-58369;SHGC-77038;SHGC-77051;SHGC-77059;SHGC-78605;SHGC-80066;SHGC-80947;SHGC-82698;SHGC-83813;SHGC-86352;STS-AA004994;STS-N70372;STS-T91564 AP3Aase;FRA3B AP3A hydrolase;OTTHUMP00000213128;OTTHUMP00000213224;OTTHUMP00000213225;bis(5'-adenosyl)-triphosphatase;diadenosine 5',5'''-P1,P3-triphosphate hydrolase;dinucleosidetriphosphatase;fragile histidine triad protein;tumor suppressor protein APPROVED protein-coding ENSG00000189283 HGNC:3701 03096 601153 REVIEWED 1342641 FHL1 four and a half LIM domains 1 This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009] X X X q26 135591521 135656168 + 135228861 135293518 + 136146702 136211359 + 1580798;1580863;6480464;7240710;8554872;8699517 11583900 10049693;10352231;10480922;10524257;11400158;12432079;12477932;12665801;12917103;14702039;14999091;15489334;15610731;15710417;15772651;15963787;16196087;16344560;16407297;17589823;18029348;18073142;18179888;18179901;18244901;18274675;18281375;18465173;18482256;18725486;18758158;19075112;19139564;19171836;19181672;19401155;19687455;19716112;19850343;20186852;20301609;20301617;20301672;20571991;20596604;20633900;20969868;21126853;21139048;21219870;21310615;21629301;21702045;21890473;21900206;21987572;22053194;22094188;22094483;22143536;22219185;22266860;22379092;22412018;22523091;22541254;22689052;22778266;22923418;23123766;23169582;23184937;23456229;23602568;23965743;23975679;24114807;24816145;25027693;7626119;8125298;8753811;9714789;9929984 2273 B7Z9A1;Q13642;Q5JXH7;Q5JXH8;Q5JXH9;Q5JXI0;Q5JXI2;Q5JXI3;Q5JXI8 ABBA01055867;ABBA01055868;ABBA01055869;ABBA01055870;ABBA01055871;ABBA01055872;AF063002;AF098518;AF110763;AF220153;AK091702;AK094024;AK122708;AK223299;AK289411;AK297124;AK299379;AK299381;AK299450;AK300966;AK301642;AK304680;AL078638;AL807743;AMYH02040573;BC010998;BC088369;BE965488;BM995585;CH471150;CR456974;DA497183;DA917361;DA982372;DC363191;DC373304;DC373386;NG_015895;NM_001159699;NM_001159700;NM_001159701;NM_001159702;NM_001159703;NM_001159704;NM_001167819;NM_001449;NR_027621;U29538;U60115;U60118;XM_006724743;XM_006724744;XM_006724745;XM_006724746;XM_006724747 AAC35421;AAC50795;AAC52021;AAC72390;AAC72886;AAD21579;AAF32351;AAH10998;AAH88369;ABZ92387;ACE86591;ACE86826;ACE87512;BAD97019;BAF82100;BAG52401;BAG53680;BAH12503;BAH13019;BAH13020;BAH13036;BAH13384;BAH13529;BAH14237;CAG33255;EAW88476;EAW88477;EAW88478;EAW88479;NP_001153171;NP_001153172;NP_001153173;NP_001153174;NP_001153175;NP_001153176;NP_001161291;NP_001440;Q13642;XP_006724806;XP_006724807;XP_006724808;XP_006724809;XP_006724810 Hs.435369 1644585;1650736;1657082;1691612;1702210;1735092;1739865;1789056;1797532;1857564;1857566;2120802;2121862;2139270 A008Y44;AL032580;D3S2774E;DXS1322;DXS6971E;DXS7158;DXS7575;FHL1_1806;G27965;G65664;RH35898;SHGC-31168;SHGC-77523;WI-18109 FHL-1;FHL1A;FHL1B;FLH1A;KYOT;MGC111107;SLIM;SLIM-1;SLIM1;XMPMA LIM protein SLIMMER;OTTHUMP00000024097;OTTHUMP00000024098;OTTHUMP00000024099;OTTHUMP00000024100;OTTHUMP00000024101;OTTHUMP00000024102;OTTHUMP00000024103;OTTHUMP00000024104;OTTHUMP00000024106;OTTHUMP00000024107;SLIMMER;four and a half LIM domains protein 1;four-and-a-half Lin11, Isl-1 and Mec-3 domains 1;skeletal muscle LIM-protein 1;skeletal muscle LIM-protein1 APPROVED protein-coding ENSG00000022267 HGNC:3702 02157 300163;300695;300696;300717;300718 REVIEWED 1350947 FHL2 four and a half LIM domains 2 This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. This protein is thought to have a role in the assembly of extracellular membranes. Also, this gene is down-regulated during transformation of normal myoblasts to rhabdomyosarcoma cells and the encoded protein may function as a link between presenilin-2 and an intracellular signaling pathway. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011] 2 2 2 q12.2 100177732 100255816 - 105977272 106055230 - 105360812 105438773 - 1580863;6480464 10649446;10654935;10906324;11001931;11046156;11062252;11099500;11124707;11135358;11161712;11813260;11821401;12067710;12145280;12151099;12358155;12411495;12432079;12466281;12477932;14550570;14680945;14729955;14986435;15117962;15161045;15231748;15342556;15453830;15489334;15509787;15572661;15572674;15610731;15666801;15692560;16079911;16184196;16196087;16311053;16341674;16343438;16355270;16378916;16619241;16652157;16713569;16888242;17093190;17145880;17192406;17383428;17416352;17682292;17975004;18029348;18157088;18224250;18255255;18356303;18615633;18653765;18680509;18768464;19139564;19265191;19325137;19417068;19465923;19608030;19815066;20360068;20442768;20460358;20592280;20607723;20734429;21139048;21150319;21308406;21377781;21826055;21832049;21890473;21906983;21988832;22049082;22219185;22417706;22796152;22797925;22851699;22863883;22882857;23000965;23212909;23383046;23413425;23585479;23756870;23801747;24008552;24219103;25027693;25092867;8753811;9150430;9573400 2274 C9J3S8;E9PKF4;F8WDA8;J3KNW4;Q14192;Q2XQU9;Q5TM15;Q6I9R8;U3KQT4 AA758053;AB038794;AB158503;ABBA01073858;AC012360;AC068273;AC108058;AK313841;AMYH02004471;AY634685;BC012742;BC014397;BC036085;BC093049;BI092736;BM836767;BP257466;BT006960;BX340370;CB989635;CF552311;CH471127;CR457437;CR936682;CR936799;DQ266432;DQ307067;JQ313902;L42176;NG_008844;NM_001039492;NM_001450;NM_201555;NM_201557;U29332;U60117;XM_005263901;XM_005263902;XM_005263903;XM_005263904;XM_005263906 AAA85333;AAC50794;AAC52073;AAH12742;AAH14397;AAH93049;AAP35606;AAV35468;AAY14896;AAY15012;ABB73038;ABC25549;ABM87334;ABW03875;AFH75080;BAA92253;BAD69710;BAG36573;CAG33718;EAX01758;EAX01759;EAX01760;NP_001034581;NP_001441;NP_963849;NP_963851;Q14192;XP_005263958;XP_005263959;XP_005263960;XP_005263961;XP_005263963 Hs.443687 1719461;1777300;2107095;2114146;5015861;5016596;5022578;5024039;5037552;7185938 D10S16;D16S325;D1S1423;D2S2827;D8S2279;FHL2_3112.2;GDB:631802;RH123449;RH47742 AAG11;DRAL;FHL-2;SLIM-3;SLIM3 LIM domain protein DRAL;OTTHUMP00000203164;OTTHUMP00000203165;OTTHUMP00000203166;OTTHUMP00000203167;OTTHUMP00000203168;OTTHUMP00000203169;OTTHUMP00000203172;aging-associated gene 11;down-regulated in rhabdomyosarcoma LIM protein;four and a half LIM domains protein 2;four and a half LIM-domain protein 2;four-and-a-half LIM domains 2;skeletal muscle LIM-protein 3 APPROVED protein-coding ENSG00000115641 HGNC:3703 04026 602633 REVIEWED 1316216 FHL3 four and a half LIM domains 3 The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 1 1 1 p34 36741060 36749863 - 38462439 38471199 - 37996767 38005527 - 1580863;6480464;7240710 10049693;10226657;11046156;11135358;12145280;12477932;12556451;12681290;12704194;14729955;15117962;15453830;15610731;16189514;16196087;17389685;18187620;19139564;20586194;20936779;21139048;21890473;21987572;21988832;22145905;22219185;22362714;22505724;22633874;22990118;23000965;23616667;24816145;24998228;25015289;8753811 2275 Q13643;Q96C98 ABBA01023250;AF133732;AK290641;AK309179;AL603790;AMYH02000810;BC001351;BC011697;BC014501;BT007052;BX384389;CH471059;CR457425;NM_001243878;NM_004468;U60116;XM_005270626 AAC04466;AAF61376;AAH01351;AAH11697;AAH14501;AAP35701;ABM84689;ABM86964;ABM92212;BAF83330;CAG33706;EAX07301;EAX07302;NP_001230807;NP_004459;Q13643;XP_005270683 Hs.57687 1658691;1736116;1795836 D1S2017E;FHL3_1356;SHGC-74628 FHL-3;MGC19547;MGC23614;MGC8696;SLIM-2;SLIM2 LIM-only protein FHL3;OTTHUMP00000004724;four and a half LIM domains protein 3;skeletal muscle LIM-protein 2 APPROVED protein-coding ENSG00000183386 HGNC:3704 09101 602790;608898 REVIEWED 1316022 FHL5 four and a half LIM domains 5 The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Dec 2009] 6 6 6 q16.1-q16.3 97652191 97706601 + 97010406 97067806 + 96562548 96619930 + 6480464;7240710;8554872 10086359;11046156;11327716;11420126;12039695;12477932;12493914;14574404;14702039;15489334;15610731;15761153;16189514;16687568;16713569;17368652;19913121;20211142;20378615;20471030;20488182;20628086;22319020;22683712;23088713;23127979;23793025;8125298 9457 Q5TD97;X6RED3 ABBA01014524;AF278541;AI425084;AI784680;AK057611;AK058175;AK223539;AK314608;AL132776;AMYH02014158;AMYH02014159;AMYH02014160;BC011015;BC021723;BC029490;CH471051;CS300692;DB446146;NM_001170807;NM_020482;XM_006715613 AAF85978;AAH21723;AAH29490;ABM84588;ABM86580;BAD97259;BAG37178;BAG51940;CAK32356;EAW48503;EAW48504;EAW48505;NP_001164278;NP_065228;Q5TD97;XP_006715676 Hs.632608 1684638 RH92682 ACT;FHL-5;FLJ33049;KIAA0776;RP3-393D12.2;dJ393D12.2 1700027G07Rik;LIM protein ACT;OTTHUMP00000016879;OTTHUMP00000016880;activator of CREM in testis;activator of cAMP-responsive element modulator (CREM) in testis;activator of cAMP-responsive element modulator in testis;four and a half LIM domains protein 5 APPROVED protein-coding ENSG00000112214 HGNC:17371 05497 605126;613101 REVIEWED 1315466 FHOD1 formin homology 2 domain containing 1 This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. [provided by RefSeq, Jul 2008] 16 16 16 q22 51771526 51789659 - 67263292 67281425 - 67229389 67247522 - 1580863;6480464 10352228;11590143;12477932;12665555;12665801;12677009;14576350;14667819;15010865;15051728;15095401;15138285;15146197;15231747;15302935;15489334;15604093;15642356;15878344;16112087;16361249;17013756;17909294;18000879;18029348;18239683;18624398;18694941;18786395;19946888;20936779;21106951;21139048;21605332;22144583;22490440;23383273;23444374;23613471;24086398;24816145;24880667 29109 B4DVN5;H3BVE7;J3KT53;J3KTH7;J3QR24;Q9Y613 AA609867;AB041046;AB209584;ABBA01025432;ABBA01025433;AC040160;AF113615;AK025992;AK301157;AK304232;AMYH02032227;AY192154;BC033084;CH471092;CN302043;KJ658417;NG_029672;NM_013241;XM_005255909;XM_005255910;XM_006721180 AAD39906;AAH33084;AAO38757;AID62088;BAD06250;BAD92821;BAG62747;BAG65101;EAW83109;EAW83110;EAW83111;EAW83112;EAW83113;NP_037373;Q9Y613;XP_005255966;XP_005255967;XP_006721243 Hs.95231 1679912;1680138;1697856;2191767 MARC_7229-7230:996687665:1;RH102455;RH79964;RH80137 FHOS FH1/FH2 domain-containing protein 1;OTTHUMP00000174818;formin homolog overexpressed in spleen 1;formin homology 2 domain-containing protein 1 APPROVED protein-coding ENSG00000135723 HGNC:17905 06049 606881 REVIEWED 1314439 FHOD3 formin homology 2 domain containing 3 Proteins that contain formin (FMN1; MIM 136535) homology (FH) domains, such as FHOD3, play a role in regulation of the actin cytoskeleton (Kanaya et al., 2005 [PubMed 15966898]).[supplied by OMIM, Apr 2010] 18 18 18 q12 30685614 31169391 + 33877677 34360019 + 36297696 36780059 + 737633;6480464;8554872 12477932 11214970;14702039;15010865;15966898;18029348;19066393;19706596;20195266;20379614;21149568;23052206;23251661;23255317;24088304;24347629 80206 K7EKZ0;K7EP24;K7ER94;Q2V2M9 AB051482;AB084087;ABBA01022427;ABBA01022428;ABBA01022429;AC023043;AC055840;AC090333;AC131053;AK025950;AK026370;AK091899;AK128053;AK308859;AL834480;AMYH02034566;AMYH02034567;AMYH02034568;AMYH02034569;AMYH02034570;BC031518;BC041040;BC050670;BC058897;BC081563;CH471088;HM191478;HY020952;NM_001281739;NM_001281740;NM_025135;XM_005258346;XM_005258347;XM_005258348;XM_005258349;XM_005258350;XM_005258351;XM_005258352;XM_005258354;XM_005258355;XM_006722550;XM_006722551 AAH50670;AAH81563;AAI56315;AAI57094;ADL62709;BAB15292;BAB15463;BAB21786;BAC67014;BAC87252;BAG52438;CAD39139;EAX01379;EAX01380;EAX01381;EAX01382;NP_001268668;NP_001268669;NP_079411;Q2V2M9;XP_005258403;XP_005258404;XP_005258405;XP_005258406;XP_005258407;XP_005258408;XP_005258409;XP_005258411;XP_005258412;XP_006722613;XP_006722614 Hs.630884 1339820;1341081;1342111;1653305;1686232;1708884;1726859;1727351;1731701;1751611;1751655;1753159;1764191;1764521;2114122;2123903;2147550;2148667;2167269;2175592;2175594;7185249 A002A43;AB056770;D18S1093;D18S1162;D18S1255;D18S1334;D18S1355;D18S496;D18S57;G19867;G62672;G63083;RH103356;RH65577;SHGC-105595;SHGC-105611;SHGC-110095;SHGC-147829;SHGC-148117;SHGC-83947;WI-20083 FHOS2;hFHOS2 FH1/FH2 domain-containing protein 3;Formactin2;formactin-2;formin homolog overexpressed in spleen 2 APPROVED protein-coding ENSG00000134775 HGNC:26178 16894 609691 VALIDATED 6481554 FHP1 fumarate hydratase pseudogene 1 13 13 42830009 42830711 + 42255873 42256575 + 100873790 ABBA01021255;AL136527;AMYH02027930;NG_032302 pseudo HGNC:39442 INFERRED 1319244 FIBCD1 fibrinogen C domain containing 1 FIBCD1 is a conserved type II transmembrane endocytic receptor that binds chitin and is located primarily in the intestinal brush border (Schlosser et al., 2009 [PubMed 19710473]).[supplied by OMIM, Apr 2010] 9 9 9 q34.12 104316112 104352719 - 133777825 133814455 - 130902438 130939068 - 737633;6480464;8554872 12477932 12975309;14702039;19710473;19892701;20237496;21139048;24293368 84929 A3KFJ8;H0Y4Y8;Q8N539;X6RDH7 ABBA01012067;ABBA01012068;ABBA01012069;AK027716;AK292489;AK300287;AL161733;AMYH02021776;AY358311;BC032953;BC112892;CH471090;DC404353;NM_001145106;NM_032843 AAH32953;AAI12893;AAQ88678;BAB55319;BAF85178;BAG62044;EAW87950;EAW87951;EAW87952;EAW87953;NP_001138578;NP_116232;Q8N539 Hs.133205 1763627 SHGC-147320 FLJ14810 OTTHUMP00000022378;OTTHUMP00000022379;OTTHUMP00000022381;fibrinogen C domain-containing protein 1 APPROVED protein-coding ENSG00000130720 HGNC:25922 16895 613357 VALIDATED 1606090 FIBIN fin bud initiation factor homolog (zebrafish) FOUND IN endoplasmic reticulum (inferred); extracellular region (inferred); Golgi apparatus (inferred); INTERACTS WITH medroxyprogesterone acetate; valproic acid; 17beta-estradiol (ortholog) 11 11 11 p14.2 27160280 27163286 + 27015628 27018634 + 26994081 26997087 + 6480464 11827452;12477932;16303743;17196583;19834535 387758 Q8TAL6 AA452778;AB236892;ABBA01060976;AC016450;AI755024;AK075535;AMYH02024498;BC026873;BQ882486;CB962364;CH471064;CS051379;D79377;NM_203371 AAH26873;BAC11678;BAF42654;CAI72184;EAW68292;NP_976249;Q8TAL6 Hs.712718 2172895;2173317 G17575;WI-15111 MGC24932 OTTHUMP00000231946;fin bud initiation factor homolog protein-coding HGNC:33747 17366 VALIDATED 1353732 FIBP fibroblast growth factor (acidic) intracellular binding protein Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 62975116 62979917 - 65651211 65656010 - 65883740 65888539 - 1580863;6480464 11104667;11509569;12145206;12477932;15489334;16169070;17353931;17497037;19913121;20628086;21139048;21832049;21890473;21900206;21906983;21963094;23000965;23128233;23455922;23602568;24816145;25096995;8125298;9806903 9158 E9PJW6;E9PSD3;H0YCE7;O43427 ABBA01024098;AF010187;AF171944;AF171945;AF171946;AF250391;AF250392;AI925637;AK223438;AK289562;AK293882;AK296571;AK299159;AK309974;AK315976;AMYH02024966;AP001201;AP006287;BC014388;BC017448;CD109589;CH471076;CR456749;DQ388430;NM_004214;NM_198897;XM_005274391;XM_005274392 AAC97140;AAD51694;AAD51695;AAD51696;AAG01396;AAG01397;AAH14388;AAH17448;ABD48957;ABW03566;ABW03878;BAD97158;BAF82251;BAG57271;BAG59191;BAG61207;BAH14347;CAG33030;EAW74465;EAW74466;EAW74467;NP_004205;NP_942600;O43427;XP_005274448;XP_005274449 Hs.7768 1738077;5022578;5024528;5091331;5122078 D11S3700;D11S4749;D1S1423;RH11778;SGC31923 FGFIBP;FIBP-1 FGF-1 intracellular-binding protein;OTTHUMP00000234231;OTTHUMP00000234232;OTTHUMP00000234233;aFGF intracellular-binding protein;acidic fibroblast growth factor intracellular-binding protein APPROVED protein-coding ENSG00000172500 HGNC:3705 08492 608296 REVIEWED 1602333 FICD FIC domain containing ENCODES a protein that exhibits protein adenylyltransferase activity; INVOLVED IN protein adenylylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; celastrol 12 12 12 q24.1 108578435 108582764 + 108909051 108913380 + 108515274 108519603 + 6480464;8554872 12477932;12975309;15383276;19362538;21988832;23251661;9700202 11153 F8VZ74;H0YIR6;J3KP49;Q9BVA6 ABBA01053133;AC010206;AF049611;AK000014;AK026074;AMYH02027155;AY358992;BC001342;BC064629;CH471054;NM_007076 AAC26847;AAH01342;AAQ89351;ABM82713;ABW03426;EAW97813;EAW97814;EAW97815;NP_009007;Q9BVA6 Hs.661891 2109419 HYPE__6623 HIP-13;HIP13;HYPE;MGC5623;UNQ3041 AMPylator FICD;FIC domain-containing protein;Huntingtin interacting protein E;OTTHUMP00000241562;adenosine monophosphate-protein transferase FICD;fic S-phase protein cell division homolog;huntingtin interacting protein 13;huntingtin interactor protein E;huntingtin yeast partner E;huntingtin-interacting protein 13;huntingtin-interacting protein E protein-coding HGNC:18416 13723 VALIDATED 1322801 FIG4 FIG4 phosphoinositide 5-phosphatase The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008] 6 6 6 q21 110759045 110893292 + 110012424 110146634 + 109691221 109825431 + 6480464;7240710;8554872;8699517 11274189;12477932;14574404;15489334;16344560;17556371;17572665;18950639;19037259;19118816;19240061;19820697;19840946;20301532;20301623;20301641;20472325;20630877;21705420;21906983;22053931;23336365;23623387;23888880;24070605;24085347;24088667;24228289;24598713;8125298;8889548;9039502 9896 H0Y6G7;Q5JRV4;Q5TCS4;Q5TCS5;Q92562 AA815086;AA946705;ABBA01026122;ABBA01026123;ABBA01026124;AI476769;AK222732;AK291671;AK293422;AL133472;AL512303;AMYH02014283;BC041338;BM016965;BU683891;CH471051;D87464;DA811740;NG_007977;NM_014845;XM_006715622 AAH41338;BAA13403;BAD96452;BAF84360;BAG56929;EAW48332;NP_055660;Q92562;XP_006715685 Hs.529959 1646071;1714219;1720705;1761587 D6S2073;G59323;RH119720;SHGC-145585 ALS11;BTOP;CMT4J;KIAA0274;RP1-249I4.1;SAC3;YVS;dJ249I4.1;hSac3 FIG4 homolog, SAC domain containing lipid phosphatase;FIG4 homolog, SAC1 domain containing lipid phosphatase;FIG4 homolog, SAC1 lipid phosphatase domain containing;OTTHUMP00000016976;SAC domain-containing protein 3;Sac domain-containing inositol phosphatase 3;phosphatidylinositol 3,5-bisphosphate 5-phosphatase;polyphosphoinositide phosphatase APPROVED protein-coding ENSG00000112367 HGNC:16873 11073 216340;609390;611228;612577;612691 REVIEWED 731830 FIGF c-fos induced growth factor (vascular endothelial growth factor D) The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. Read-through transcription has been observed between this locus and the upstream PIR (GeneID 8544) locus. [provided by RefSeq, Feb 2011] X X X p22.31 19479224 19518092 - 15363713 15402535 - 15345591 15384413 - 1580863;704404;1334463;2298727;2315478;2315479;2315480;2315475;6480464;6484113;6907045 15563310;16633338;17951197;17970053;18343598;19589137 10542248;11279005;12477932;12576440;12610509;12714562;12759540;12920128;12963694;15489334;15590642;15623620;15693535;15701844;15803188;16049374;16152591;16344560;16467091;16570043;16624815;16816121;16924525;17034294;17222375;17242158;17442484;17676294;17917969;17926187;17931169;17970036;18171601;18199540;18416461;18512120;18561194;18564921;18609713;18636361;18717190;18941249;18983460;19074006;19096126;19117016;19226617;19265133;19275959;19301310;19462898;19629892;19717640;19730683;19744460;19771906;19821158;20096685;20143921;20179233;20237496;20448355;20450586;20452482;20626397;20651394;20672317;20673868;21315726;21319951;21387130;21474827;21483160;21515745;21520987;21781145;22071224;22326461;22326635;22383980;22513045;22535492;22545097;22552325;22581182;22906075;22965194;23054001;23238856;23404505;23437092;23585340;24097873;24173916;24502459;8125298;8876195;9205122;9435229;9479493;9684805 2277 O43915;Q53FX1 ABBA01071294;ABBA01071295;ABBA01071296;AC095351;AJ000185;AK223160;AK313173;AMYH02038912;AMYH02038913;BC027948;CH471074;CQ858318;CS023802;CS037005;CS067232;CS148545;CS172369;CS172815;CS367410;D89630;DA587496;FB510795;HC040689;NG_012509;NM_004469;U69570;Y12863;Y12864;Y12865;Y12866;Y12867;Y12868;Y12869;Y12870 AAH27948;BAA24264;BAD96880;BAG35990;CAA03942;CAA73370;CAA73371;CAH23420;CAI59113;CAI63839;CAI84579;CAJ29849;CAJ32892;CAJ32904;CAL32762;CAV32972;CBH30537;EAW98885;NP_004460;O43915 Hs.11392 1666960;1687435;1699560;1739193;1795838;1846696;2109659;2149250;2177890 D8S1556;FIGF_1558;PIR_8825;RH103380;RH91522;SHGC-34929;STS-H69335;STS-T64149;STS-Z40756 VEGF-D;VEGFD OTTHUMP00000022960;c-fos-induced growth factor;vascular endothelial growth factor D APPROVED protein-coding ENSG00000165197 HGNC:3708 02102 300091 REVIEWED 1602165 FIGLA folliculogenesis specific basic helix-loop-helix This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009] 2 2 2 p13.3 70855120 70868451 - 71004442 71017775 - 70777310 70790643 - 7240710;6480464;8699517;8554872 12468641;12477932;12489526;15044608;15489334;16143663;17305537;18499083;18502569;19258411;19610175 344018 Q6QHK4 ABBA01075541;AC007395;AMYH02004043;AY541030;BC039536;CH471053;NG_013044;NM_001004311 AAI46288;AAI48799;AAS48452;EAW99795;EAW99796;EAW99797;NP_001004311;Q6QHK4 Hs.407636 POF6;bHLHc8 FIGALPHA;OTTHUMP00000203910;class C basic helix-loop-helix protein 8;factor in the germline alpha;folliculogenesis-specific basic helix-loop-helix protein;transcription factor FIGa APPROVED protein-coding ENSG00000183733 HGNC:24669 12279 608697;612310 REVIEWED 1317798 FIGN fidgetin ENCODES a protein that exhibits ATP binding (inferred); protein C-terminus binding (inferred); INVOLVED IN mitotic nuclear division (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nuclear matrix (ortholog); INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 2 2 2 q24.3 158074075 158202502 - 164461447 164592618 - 163604937 163736108 - 6480464;8554872 11017077;14702039;15815621;19240061;19680635;19744961;19913121;20628086;21145461;21572416;21909110;22672901;24250222 55137 B8ZZS6;Q5HY92 ABBA01004901;ABBA01004902;ABBA01004903;AC092684;AC093727;AK001267;AK025747;AK125324;AMYH02005102;AMYH02005103;AMYH02005104;BX649105;CH471058;CS300720;NM_018086;XM_005246661;XM_005246662 AAI48650;AAI56959;AAX81992;ACE86806;ACE87493;BAA91590;BAB15231;BAG54182;CAI45980;CAK32384;EAX11345;NP_060556;Q5HY92;XP_005246718;XP_005246719 Hs.593650 1648660;1703424;1732627;1763857;1787676;2107097;2152517 AFMa081we1;D5S1381;FIGN__6723;RH69236;SHGC-147520;SHGC-156154;SHGC-68802 OTTHUMP00000082689 protein-coding HGNC:13285 07287 605295 VALIDATED 1316113 FIGNL1 fidgetin-like 1 ENCODES a protein that exhibits hydrolase activity (ortholog); magnesium ion binding (ortholog); INVOLVED IN cellular response to ionizing radiation; regulation of double-strand break repair via homologous recombination; ATP metabolic process (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; nuclear chromosome; cytoplasm (ortholog); INTERACTS WITH 17beta-estradiol; aflatoxin B1; atrazine 7 7 7 p12.1 50576751 50583008 - 50511827 50518088 - 50444129 50450390 - 6480464;8554872 12477932;12690205;12853948;14702039;16344560;19056867;19058789;19471022;21102463;21890473;21963094;22939629;23455924;23754376;24250222;8889548 63979 B3KNH6;C9JHJ4;C9JKI6;C9JP37;C9JSC4;C9JTB2;C9JTG6;Q6PIW4 ABBA01011801;AC018705;AK023142;AK023411;AK027537;AK308136;AL834387;AMYH02015693;BC027856;BC051867;BU166325;BU741583;BX342197;CH236955;CH471128;DA114757;DA121143;DA121992;DA433617;DA798223;DA812999;DB067077;NM_001042762;NM_001287492;NM_001287493;NM_001287494;NM_001287495;NM_001287496;NM_022116;XM_005271783 AAH51867;AAS01996;ACE86986;BAB14426;BAB14567;BAG51338;CAD39050;EAL23899;EAW60975;EAW60976;NP_001036227;NP_001274421;NP_001274422;NP_001274423;NP_001274424;NP_001274425;NP_071399;Q6PIW4;XP_005271840 Hs.137516 1699920;2169822 D7S1606;RH103568 OTTHUMP00000159582;OTTHUMP00000209011;OTTHUMP00000209012;OTTHUMP00000209013;OTTHUMP00000209014;OTTHUMP00000209015;OTTHUMP00000209016;OTTHUMP00000209017;OTTHUMP00000209018;fidgetin-like protein 1 protein-coding ENSG00000132436 HGNC:13286 10958 615383 VALIDATED 1603328 FIGNL2 fidgetin-like 2 ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH 17beta-estradiol; atrazine 12 12 12 q13.13 51013783 51018315 - 52211676 52242364 - 51817892 51848580 - 6480464 11017077;16541075;24250222;8889548 401720 A6NMB9;Q6ZP58 ABBA01031617;AC068987;AK129980;AMYH02026491;BM676965;NM_001013690;XM_005268870 A6NMB9;AAI56213;BAC85267;NP_001013712;XP_005268927 Hs.648218 putative fidgetin-like protein 2;similar to fidgetin protein-coding HGNC:13287 18433 PROVISIONAL 1347231 FILIP1 filamin A interacting protein 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; all-trans-retinoic acid 6 6 6 q14.1 76411158 76596783 - 76004607 76203516 - 75294891 75493800 - 6480464;8554872 10574462;11076863;11230166;12055638;12477932;14574404;14702039;15302935;15489336;16381901;21784850;21832049;22505724;23087206;24327474 27145 Q05C39;Q7Z7B0 AB033101;AB086011;ABBA01040356;ABBA01040357;ABBA01040358;AK001570;AK027705;AK097021;AK290232;AL080250;AL356057;AL445465;AL589649;AL832009;AMYH02013930;AMYH02013931;BC110829;BC136443;BC136444;BX647178;CH471051;DB126435;NM_001289987;NM_001300866;NM_015687;NR_110608;XM_005248713;XM_005248714;XM_005248715 AAI36444;AAI36445;BAA86589;BAA91763;BAB55310;BAC04928;BAC77067;BAF82921;CAD89912;CAL37833;CAL38276;EAW48737;EAW48738;EAW48739;NP_001276916;NP_001287795;NP_056502;Q7Z7B0;XP_005248770;XP_005248771;XP_005248772 Hs.696158 1336263;1654177;1695456;1766649;1853453;2123074;2160522;7186297 B319ZF5;D6S2011;D6S2140;D6S456;G17073;SHGC-149943;SHGC-68578 KIAA1275 FILIP;OTTHUMP00000016755;OTTHUMP00000016756;filamin-A-interacting protein 1 protein-coding ENSG00000118407 HGNC:21015 09533 607307 VALIDATED 1604834 FILIP1L filamin A interacting protein 1-like ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); membrane (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 3 3 3 q12.1 97942485 98223977 - 99551988 99833349 - 99833144 100114513 - 6480464;8554872 11836256;12477932;14702039;15342556;15935955;16229804;16344560;19270026;20379614;20635389;21693594;21784850;21832087;22863734;22900064;23174249;23455636;23512105;24144296;24340050;8125298;8314147;8889548 11259 C9JYJ6;H7C4M0;Q4L180 ABBA01061796;ABBA01061797;ABBA01061798;ABBA01061799;ABBA01061800;AC024938;AC069222;AC117419;AC129803;AC130887;AF329092;AF514867;AF514868;AF514869;AK096195;AK225855;AMYH02007296;AMYH02007297;AMYH02007298;AMYH02007299;AMYH02007300;AMYH02007301;AX776292;AX776294;AX776296;AX776298;AY642382;BC017987;BC020941;BC027860;BM674194;BP233250;CH471052;DB080427;EU531865;EU531866;NM_001042459;NM_001282793;NM_001282794;NM_014890;NM_182909;U53445;XM_006713486 AAA98972;AAH20941;AAH27860;AAN16206;AAQ08177;AAQ08178;AAQ08179;AAV34207;ACB37436;ACB37437;CAE11726;CAE11727;CAE11728;CAE11729;EAW79833;EAW79834;NP_001035924;NP_001269722;NP_001269723;NP_055705;NP_878913;Q4L180;XP_006713549 Hs.104672 1337933;1658071;1674834;1682840;1718683;1719297;1735120;1754775;1784880;2109245;2114256;2114350;2116934;2145674;5095004;5109281 D1S1425;D3S2419;D3S2791E;DOC1_9246;FILIP1L;RH123032;RH123371;RH16583;RH41998;RH48251;RH92520;SHGC-33580;SHGC-70123;SHGC-77163;STS-N32498;WI-8558 DOC-1;DOC1;GIP130;GIP130a;GIP130b;GIP130c;GIP90 130 kDa GPBP-interacting protein;90 kDa GPBP-interacting protein;GPBP-interacting protein 90;GPBP-interacting protein of 130 kDa;OTTHUMP00000213947;OTTHUMP00000213948;OTTHUMP00000213949;OTTHUMP00000213950;downregulated in ovarian cancer 1 81 kDa isoform;filamin A-interacting protein 1-like;protein down-regulated in ovarian cancer 1 protein-coding ENSG00000168386 HGNC:24589 16832 612993 VALIDATED 6481057 FILIP1LP1 filamin A interacting protein 1-like pseudogene 1 100874347 AL139184 pseudo HGNC:39730 1342783 FIM1 Friend-murine leukemia virus integration site 1 homolog 1300187 2921036 2278 HGNC:3709 1351521 FIM3 Friend-murine leukemia virus integration site 3 homolog 1300187 2921036 2279 HGNC:3710 1319628 FIP1L1 factor interacting with PAPOLA and CPSF1 This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 4 4 4 q12 51741311 51823579 + 54243803 54326103 + 53377639 53459936 + 6480464;6907045;8554872 11076863;11230166;12477932;12660384;12808148;12842979;14630792;14702039;14729963;14749727;15284118;15302935;15489334;15489336;15767428;16055720;16159877;16189514;16381901;16502585;16690743;16964243;17081983;17261495;17299092;17377585;17591942;18029348;18706197;18987651;19118897;21145461;21399396;21818111;21832049;21906983;22113938;22446626;22447844;22505724;22523564;22939629;22944561;22990118;23125841;23455924;23602568;23621172;23725790;23752268;24250222;24457600;24458279;24550385;24763514;24816145 81608 H0Y8J4;H0Y8P7;Q6UN15 ABBA01003391;AC058822;AC098821;AF161429;AK090938;AK123992;AK295737;AK300398;AK308145;AL136910;AMYH02009217;AMYH02009218;AMYH02009219;AMYH02009220;AY366510;BC011543;BC017724;BC024016;BC026724;BC052959;BC110383;CH471057;CQ834882;DN990103;NG_008644;NM_001134937;NM_001134938;NM_030917;XM_005265768;XM_005265769;XM_005265770;XM_005265771;XM_005265772;XM_005265773;XM_005265774;XM_005265775;XM_005265776;XM_005265777;XM_005265778;XM_005265779;XM_005265780;XM_005265781;XM_005265782 AAF28989;AAH11543;AAH17724;AAH24016;AAH52959;AAI10384;AAQ88277;BAG58575;BAG62129;CAB66844;CAH05656;CAL37636;EAX05445;EAX05446;EAX05447;EAX05448;EAX05449;NP_001128409;NP_001128410;NP_112179;Q6UN15;XP_005265825;XP_005265826;XP_005265827;XP_005265828;XP_005265829;XP_005265830;XP_005265831;XP_005265832;XP_005265833;XP_005265834;XP_005265835;XP_005265836;XP_005265837;XP_005265838;XP_005265839 Hs.624245 1647447;1665184;1739979;1775816;1848995;1848997;1857834;2219904;5037552;5109281 A001V35;D1S1425;D4S1106;D4S2783;D4S2897;D8S2279;G19694;LNX__6406;SHGC-67415;STS-R85294 DKFZp586K0717;FIP1;FLJ33619;Rhe;hFip1 FIP1 like 1;FIP1-like 1 protein;FIP1L1 cleavage and polyadenylation specific factor subunit;OTTHUMP00000158885;OTTHUMP00000218546;OTTHUMP00000218547;OTTHUMP00000218659;factor interacting with PAP;pre-mRNA 3'-end-processing factor FIP1;rearranged in hypereosinophilia APPROVED protein-coding ENSG00000145216 HGNC:19124 09646 607686 REVIEWED 8157971 FIRRE firre intergenic repeating RNA element ASSOCIATED WITH Lung Neoplasms (inferred) X X X q26.2 131223089 131351075 - 130836678 130964671 - 131702650 131830643 - 8554872 11181995;12477932;14702039;24463464 286467 ABBA01042153;ABBA01042154;ABBA01042155;ABBA01042156;ABBA01042157;ABBA01042158;ABBA01042159;ABBA01042160;ABBA01042161;ABBA01042162;ABBA01042163;ABBA01042164;ABBA01042165;ABBA01042166;ABBA01042167;ABBA01042168;AK097911;AL008629;AL121572;AL365256;AL513243;AMYH02040496;AMYH02040497;BC038558;BC131554;CH471107;HG512686;NR_026975 BAG53547;EAX11788;EAX11789 Hs.720385 LINC01200;RP11-453F18__B.1 APPROVED ncrna ENSG00000213468 HGNC:49627 VALIDATED 1315413 FIS1 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008] 7 7 7 q22.1 95892051 95897529 - 100882893 100889009 - 101239612 101245090 - 1580863;6480464 10810093;12477932;12783892;12853948;12861026;14561759;14623186;14705031;14996942;15024001;15356267;15489334;16010987;16107562;16118244;16874301;16883569;16914522;17207965;17408615;17545159;17884824;18029348;18353969;18515060;18782765;18832378;18845145;19864424;19946888;20178365;20179104;20428767;20826455;20877624;21103663;21139048;21163940;21183955;21699783;21701560;21890626;22053931;22340708;22595523;22789569;22939629;23077178;23503661;23713734;23907611;23921378;24416201;24816145 51024 C9JXH1;F5H509;F5H8A8;F8WBT1;F8WD11;Q9Y3D6 ABBA01011339;ABBA01011340;AC006329;AF151893;AK310968;AK311665;AMYH02016404;BC003540;BC009428;BI836529;CH471197;NM_016068 AAD34130;AAH03540;AAH09428;AAP22366;ADQ32791;EAW50212;EAW50213;EAW50214;NP_057152;Q9Y3D6 Hs.423968 2124032 WI-11506 CGI-135;TTC11;hFis1 FIS1 homolog;H_NH0132A01.6;OTTHUMP00000211474;TPR repeat protein 11;mitochondrial fission 1 protein;tetratricopeptide repeat domain 11;tetratricopeptide repeat protein 11 APPROVED protein-coding ENSG00000214253 HGNC:21689 12352 609003 VALIDATED 1603355 FITM1 fat storage-inducing transmembrane protein 1 FIT1 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008] 14 14 14 q12 4465145 4466528 + 24600675 24602058 + 24131466 24132849 + 6480464;8554872 12477932;18160536;21832049 161247 A5D6W6 ABBA01061331;AL136295;AMYH02028879;BC042179;BC139911;BI114004;BQ574746;BX347190;CH471078;NM_203402 A5D6W6;AAI39912;EAW66107;NP_981947 Hs.128060 1697710 RH102373 FIT1;MGC46490 OTTHUMP00000164703;fat-inducing protein 1;fat-inducing transcript 1;similar to cg10671-like APPROVED protein-coding ENSG00000139914 HGNC:33714 17312 612028 VALIDATED 1317034 FITM2 fat storage-inducing transmembrane protein 2 FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008] 20 20 20 q13.12 39643861 39648553 - 42935197 42939889 - 44306557 44311249 - 6480464;8554872 11780052;12477932;15489334;18160536;20877624;21139048;22158537;24250222 128486 Q8N6M3 ABBA01052636;AL117382;AMYH02037129;BC029662;BC130446;BC136640;CH471077;KF456918;NM_001080472 AAI30447;AAI36641;EAW75929;NP_001073941;Q8N6M3 Hs.632269 1652847;1686959;1849240;5022578;5024039;5037552 A004C16;D16S325;D1S1423;D8S2279;RH79770;STS-Z40740 C20orf142;Fit2;MGC30135;dJ881L22.2 OTTHUMP00000031045;fat inducing transcript 2;fat-inducing protein 2;fat-inducing transcript 2 APPROVED protein-coding HGNC:16135 612029 PROVISIONAL 1605920 FIZ1 FLT3-interacting zinc finger 1 This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 53143875 53152032 - 56102737 56110893 - 55591371 55599562 - 6480464 10409713;12477932;12566383;14702039;17141759;24024966 84922 K7EJE2;K7EQX6;K7ERP0;K7ES33;Q96SL8 AA864884;ABBA01020864;AC008735;AK027674;AK160385;AMYH02036472;AMYH02036473;BC020368;BC132777;BC136512;CH471135;NM_032836;XM_005259352;XM_005259353;XM_006723446 AAI32778;AAI36513;BAB55286;BAD18728;EAW72391;EAW72392;NP_116225;Q96SL8;XP_005259409;XP_005259410;XP_006723509 Hs.515617 2118637 WI-15141 FLJ00416;FLJ14768;ZNF798 flt3-interacting zinc finger protein 1;zinc finger protein 798 APPROVED protein-coding ENSG00000179943 HGNC:25917 07870 609133 REVIEWED 1314537 FJX1 four jointed box 1 (Drosophila) The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. [provided by RefSeq, Jul 2008] 11 11 11 p13 35786997 35789681 + 35639735 35642421 + 35618187 35620873 + 1580863;6480464 10072791;10568747;12477932;21988832;7647465 24147 Q86VR8 ABBA01060856;ABBA01060857;AJ245599;AK026069;AK098459;AK315015;AL135934;AMYH02024596;BC049171;BC071898;BF509837;CH471064;L37769;NM_014344 AAH49171;AAH71898;BAG37506;CAB53246;EAW68138;NP_055159;Q86VR8 Hs.39384 2109307;2149905 FJX1_9404;RH36354 FLJ22416;FLJ25593 OTTHUMP00000232571;four-jointed box protein 1;four-jointed protein homolog;putative secreted ligand homologous to fjx1 APPROVED protein-coding ENSG00000179431 HGNC:17166 16897 612206 REVIEWED 1319279 FKBP10 FK506 binding protein 10, 65 kDa The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009] 17 17 17 q21.2 36620309 36630813 + 39968962 39979469 + 41812262 41823217 + 1580863;6480464;8699517;7240710;8554872 11071917;12036304;12477932;12754519;14702039;15489334;16303743;16333983;16396496;18786928;19596235;20000738;20362275;20839288;21139048;21320693;21399973;21567934;22107750;22718341;22863883;22939629;22949511;23354471;23434032;23712425;24106871 60681 C9JPC3;H0Y827;K7ELI6;K7EM43;K7ESG6;Q658U4;Q8NAG5;Q96AY3 AB045981;ABBA01006450;AC091172;AF337909;AI095261;AK000690;AK025694;AK025874;AK074413;AK092042;AK092708;AK172811;AK296107;AL365371;AL832985;AMYH02033413;AMYH02033414;BC016467;BX537452;CH471152;NG_015860;NM_021939;XM_006722008 AAH16467;AAM15770;ABM85920;ACE86703;ACE87387;BAB15220;BAB15266;BAB20974;BAC03954;BAD18781;BAG58857;CAD97695;CAH56332;EAW60767;EAW60768;EAW60769;EAW60770;NP_068758;Q96AY3;XP_006722071 Hs.463035 1777457;1777459;1795840;2120666;2157373 A002C18;FKBP10_1478;G19926;RH66668;WI-19316 65 kDa FKBP;FKBP-10;FKBP-65;FKBP6;FKBP65;FLJ20683;FLJ22041;FLJ23833;OI11;OI6;hFKBP65 65 kDa FK506-binding protein;FK506-binding protein 10;OTTHUMP00000164742;OTTHUMP00000164743;PPIASE;PPIase FKBP10;immunophilin FKBP65;peptidyl-prolyl cis-trans isomerase FKBP10;rotamase APPROVED protein-coding ENSG00000141756 HGNC:18169 09522 607063;610968 REVIEWED 1314619 FKBP11 FK506 binding protein 11, 19 kDa FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008] 12 12 12 q13.12 48110221 48113809 - 49315742 49319330 - 48921959 48925547 - 1580863;6480464;8554872 12036304;12477932;15489334;16344560;16596453;19946888;21988832;23749938;24457600 51303 E9PAR0;F8VU90;F8VXK0;H0YHM7;J3KN11;Q9NYL4 ABBA01031494;AC073610;AF238079;AK301455;AMYH02026429;AY358998;BC027973;BC048292;BE857354;CH471111;DA378205;NM_001143781;NM_001143782;NM_016594 AAF63478;AAH27973;AAH48292;AAQ89357;ABM82983;ABM86177;BAG62979;EAW58022;EAW58023;NP_001137253;NP_001137254;NP_057678;Q9NYL4 Hs.655103 1647965;2145884;5024756 G15997;RH80030;STS-N72137 FKBP19;MGC54182 19 kDa FK506-binding protein;19 kDa FKBP;FK506-binding protein 11;FKBP-11;FKBP-19;OTTHUMP00000243698;OTTHUMP00000243699;OTTHUMP00000243702;OTTHUMP00000243703;PPIase FKBP11;peptidyl-prolyl cis-trans isomerase FKBP11;rotamase APPROVED protein-coding ENSG00000134285 HGNC:18624 11170 610571 VALIDATED 1323300 FKBP14 FK506 binding protein 14, 22 kDa The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012] 7 7 7 p14.3 30042275 30055659 - 30050199 30066417 - 30010583 30026801 - 1580863;6480464;8699517;7240710;8554872 12036304;12477932;12690205;12975309;14702039;15340161;15489334;16344560;18457437;19189656;19322201;19862764;21900206;22265013;22675492;24272907 55033 F8WBZ0;H7C1Z9;Q9NWM8 AACC02000087;ABBA01056808;ABBA01056809;AC007285;AK000738;AK309552;AMYH02015451;AY358643;BC005206;CH471073;CR748502;DA166879;DB498479;JQ797475;NG_032173;NM_017946;NR_046478;NR_046479 AAH05206;AAQ89006;ABM83451;ABM86663;AFH08820;BAA91351;EAL24457;EAW93929;NP_060416;Q9NWM8 Hs.390838 1671019;1777542;2185048;5014740;5015404;5017433;5020946;5020948;5022578;5022588;5022651 D11S2921;D17S610;D1S1423;D5S1597E;G35510;GDB:3754616;L17705;L17971;RH65031;RH71181;STS-T76997 EDSKMH;FKBP22;FLJ20731;IPBP12 22 kDa FK506-binding protein;22 kDa FKBP;FK506-binding protein 14;FKBP-14;FKBP-22;OTTHUMP00000122625;PPIase FKBP14;peptidyl-prolyl cis-trans isomerase FKBP14;rotamase APPROVED protein-coding ENSG00000106080 HGNC:18625 16898 614505;614557 REVIEWED 1312480 FKBP15 FK506 binding protein 15, 133kDa ENCODES a protein that exhibits actin binding (inferred); peptidyl-prolyl cis-trans isomerase activity (inferred); INVOLVED IN negative regulation of phosphatase activity; FOUND IN membrane; INTERACTS WITH formaldehyde; methamphetamine; dibutyl phthalate (ortholog) 9 9 9 q32 86575708 86631259 - 115927800 115983641 - 113165519 113221361 - 6480464 12477932;16344560;16756961;18029348;19121306;19389623;19946888;20376207;21139048;21890473;22070227;22266860;22939629;23383273;24255178;24332808;24639526;24816145;9734811 23307 Q5T1M5;X6RKW4 AB014574;ABBA01042691;AK301208;AK303074;AK307498;AK307507;AL449105;AL449305;AMYH02021503;AMYH02021504;AMYH02021505;AMYH02021506;BC009609;BC026048;BC077732;BQ646813;DA238568;DC321217;NM_015258;XM_006717018;XM_006717019 AAH09609;AAH77732;AAI66677;BAA31649;BAG62784;BAG64190;NP_056073;Q5T1M5;XP_006717081;XP_006717082 Hs.522351 1665127;1665129;1700186;1765243;2185766 A005R10;G20432;RH103708;SHGC-148733;WI-11800 133 kDa FKBP;FKBP-15;FKBP133;KIAA0674;PPP1R76;WAFL 133 kDa FK506-binding protein;FK506-binding protein 133kDa;FK506-binding protein 15;FKBP-133;OTTHUMP00000021948;WASP and FKBP-like;protein phosphatase 1, regulatory subunit 76 protein-coding ENSG00000119321 HGNC:23397 VALIDATED 737539 FKBP1A FK506 binding protein 1A, 12kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008] 20 20 20 p13 1445967 1470163 - 1349621 1373816 - 1368977 1393172 - 1580388;704404;2298922;2302074;6480464;6484113 12809600;17877381;9461216 10025408;10089303;10358090;10515881;10656803;10852943;11164950;11171121;11237759;11245643;11279144;11322937;11438723;11598113;11780052;11827452;11960000;12181673;12417722;12443530;12477932;12600203;12604780;12665801;12704193;12761501;12812497;1281998;12850152;1374404;1375171;14679009;14970260;15146197;15199065;15268862;15284440;15467718;15489334;15514157;15734648;15761148;15796538;15908921;15992823;16036432;16122887;16278292;16410343;16720724;16908189;1695378;1696686;1701173;1709301;1709302;1709363;1713687;1716149;17397867;17872463;17962721;17991864;18029417;18346205;18413763;1930186;19322201;19414059;19592636;19913121;20628086;21047202;21139048;21652707;21832049;21890473;22100703;22103444;22236651;22505724;22939629;22990118;23000965;23585572;23688288;23734213;23824909;24113748;24250222;24405377;24499793;24598733;2477715;24816145;7518616;7529739;7541038;7541044;7543369;7592869;7678431;7682113;7791754;7821789;7822316;8521476;8524402;8662507;8889548;8955134;9334222;9346894;9546659;9663660;9871618;9880681 2280 P62942;Q0VDC6;Q1JUQ5;Q5W0X3 AA731598;AB190794;AB241123;AB241124;AB241125;ABBA01053771;AF205192;AI753994;AL109658;AL136531;AMYH02036565;AMYH02036566;BC001925;BC005147;BC119732;BC119733;BT007066;BU540706;CA450516;CH471133;CN426120;CR407613;CR542168;CS081479;CX870892;D28444;KF456785;M34539;M80199;M80204;M92423;M93060;NM_000801;NM_001199786;NM_054014;X52220;X55741 AAA35844;AAA58472;AAA58476;AAF17608;AAH01925;AAH05147;AAI19733;AAI19734;AAP35729;ABM82745;BAA05810;BAE44301;BAE94235;BAE94236;BAE94237;CAA36462;CAA39272;CAG28541;CAG46965;CAI95951;EAX10633;EAX10634;EAX10635;NP_000792;NP_001186715;NP_463460;P62942 Hs.471933;Hs.700839 1653597;1655308;1688384;1740657;1748481;1788808;1846548;2126829;5016921 D20S1003;RH141052;RH40885;RH68384;RH68934;SGC33430;SGC35429;SHGC-32807;STS-X52220 12 kDa FKBP;FKBP-12;FKBP-1A;FKBP1;FKBP12;FKBP12-Exip3;FKBP12C;PKC12;PKCI2 12 kDa FK506-binding protein;FK506 binding protein12;FK506-binding protein 1;FK506-binding protein 12;FK506-binding protein 1A (12kD);FK506-binding protein, T-cell, 12-kD;OTTHUMP00000029977;OTTHUMP00000029978;OTTHUMP00000029979;OTTHUMP00000029980;PPIASE;PPIase FKBP1A;calstabin 1;calstabin-1;fk506-binding protein 1a;immunophilin FKBP12;peptidyl-prolyl cis-trans isomerase FKBP1A;protein kinase C inhibitor 2;rotamase APPROVED protein-coding ENSG00000088832 HGNC:3711 01741 186945 REVIEWED 5133080 FKBP1A-SDCBP2 FKBP1A-SDCBP2 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring FK506 binding protein 1A, 12kDa and syndecan binding protein (syntenin) 2 genes on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 20 20 p13 1290553 1373816 - 1309909 1393172 - 6480464;8554872 20967262 100528031 ABBA01053769;ABBA01053770;ABBA01053771;AK309026;AL109658;AL136531;AMYH02036565;AMYH02036566;BM925547;KF456783;KF456785;NR_037661 Hs.471933;Hs.657015 APPROVED ncrna ENSG00000234684 HGNC:41997 VALIDATED 1351709 FKBP1AP1 FK506 binding protein 1A, 12kDa pseudogene 1 19 19 19 q13.43 55380138 55382320 - 58336648 58338830 - 57825280 57827462 - 1716149 2282 ABBA01020798;ABBA01020799;AC010522;AC010645;AI076645;AMYH02036522;M80196;M80201;NR_024162 Hs.720356 1652194;1688384;1748481 RH35863;RH68934;SHGC-32807 FKBP12;FKBP1P1 APPROVED pseudo HGNC:3714 INFERRED 1343039 FKBP1AP2 FK506 binding protein 1A, 12kDa pseudogene 2 15 15 15 q24.1 50312988 50314541 - 73434443 73435806 - 73142102 73143465 - 1716149 2283 ABBA01038715;AC129980;AMYH02030769;M80197;M80202;NG_008623;NG_016965 FKBP12;FKBP1P2 APPROVED pseudo HGNC:3715 INFERRED 1351220 FKBP1AP3 FK506 binding protein 1A, 12kDa pseudogene 3 13 13 13 q14.13 28135042 28138470 + 47079214 47082644 + 46505079 46508509 + 1716149 2284 ABBA01050991;AL138686;AMYH02027987;M80200;NG_006209 FKBP12;FKBP1P3 APPROVED pseudo HGNC:3716 VALIDATED 1346929 FKBP1AP4 FK506 binding protein 1A, 12kDa pseudogene 4 3 3 3 q25.1 147592336 147593954 - 149180386 149182004 - 149462599 149464217 - 1716149;19913121;20628086 2285 ABBA01058943;AC108751;AMYH02007884;M80198;M80203;NG_006255 1748481 SHGC-32807 FKBP12;FKBP1P4 APPROVED pseudo HGNC:3717 INFERRED 735951 FKBP1B FK506 binding protein 1B, 12.6 kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 24112915 24126882 + 24272584 24286551 + 24049714 24063681 + 1580387;704404;2302075;2302065;2302077;2302073;6480464 15497458;17506935;17637193;18570278;19000375 10713512;10830164;11237759;11322937;12443530;12446682;12459180;12477932;12754204;14616768;15351706;15489334;15591045;15749201;15972811;16122887;17200109;17313373;17921453;19197348;19226252;20404344;20431056;22087651;22236651;23887639;7513996;7592869;9013543 2281 F8W6G9;G5E9U6;H7C0Y3;P68106 AB190793;ABBA01045101;AC008073;AF322070;AMYH02003410;BC002614;BC050998;BF969580;CH471053;D38037;HB868428;HC925837;L37086;NM_004116;NM_054033;S69800;S69815 AAB30684;AAB30685;AAC37581;AAH02614;AAK11191;AAY14663;BAA07232;BAE44300;CBF58189;CBU83624;EAX00768;EAX00769;EAX00770;NP_004107;NP_473374;P68106 Hs.709461 1656418;1774427;1797534 FKBP1B_2367;RH68268;SHGC-31628 FKBP-12.6;FKBP-1B;FKBP12.6;FKBP1L;OTK4;PKBP1L;h-FKBP-12 12.6 kDa FK506-binding protein;12.6 kDa FKBP;FK506-binding protein 1-like;FK506-binding protein 12.6;FK506-binding protein 1B;OTTHUMP00000116040;OTTHUMP00000116041;PPIase;PPIase FKBP1B;calstabin 2;fk506 binding protein 1b;immunophilin FKBP12.6;peptidyl-prolyl cis-trans isomerase FKBP1B;rotamase APPROVED protein-coding ENSG00000119782 HGNC:3712 02795 600620 REVIEWED 2301268 FKBP1C FK506 binding protein 1C INTERACTS WITH 17beta-estradiol (ortholog); 1H-pyrazole (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 q12 62080819 62082397 + 63921352 63922927 + 63211447 63213022 + 6480464 642489 Q5VVH2 ABBA01023966;AL450346;AMYH02013810;NG_008622 1688384;1740657;1748481;1788808 D20S1003;RH141052;RH68934;SHGC-32807 bA184C23.2 pseudo HGNC:21376 16899 INFERRED 1349147 FKBP2 FK506 binding protein 2, 13kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thought to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008] 11 11 11 q13.1-q13.3 61335294 61338488 + 64008413 64011607 + 64240941 64244135 + 1580863;6480464 12477932;12606707;1281998;15353007;15489334;16169070;16713569;1713687;18624398;19913121;20628086;20661446;21139048;22956769;22990118;24250222;24816145;7505249;7526846;8373365;8889548;9531554 2286 F5H0N4;P26885;Q53XJ5 ABBA01003291;AMYH02024932;AP001453;AW450265;BC003384;BC091475;BT009861;BU682774;CH471076;CR407636;HB868426;HC925835;L18980;M65128;M75099;NM_001135208;NM_004470;NM_057092;XM_005273848;XM_006718476 AAA36563;AAA58473;AAH03384;AAH91475;AAP88863;ABM85057;CAG28564;CBF58188;CBU83623;EAW74224;EAW74225;NP_001128680;NP_004461;NP_476433;P26885;XP_005273905;XP_006718539 Hs.227729 1649068;1791161 FKBP2;fkbp2sts3 13 kDa FKBP;FKBP-13;FKBP-2 13 kDa FK506-binding protein;FK506-binding protein 2 (13kD);OTTHUMP00000236930;OTTHUMP00000236931;OTTHUMP00000236933;PPIase;PPIase FKBP2;immunophilin FKBP13;peptidyl-prolyl cis-trans isomerase FKBP2;proline isomerase;rapamycin-binding protein;rotamase APPROVED protein-coding ENSG00000173486 HGNC:3718 01742 186946 REVIEWED 1312751 FKBP3 FK506 binding protein 3, 25kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, as well as histone deacetylases, the transcription factor YY1, casein kinase II, and nucleolin. It has a higher affinity for rapamycin than for FK506 and thus may be an important target molecule for immunosuppression by rapamycin. [provided by RefSeq, Sep 2008] 14 14 14 q21.2 25446055 25464985 - 45584802 45603732 - 45115599 45134529 - 1580863;6480464 11532945;12392168;12477932;12920132;1374240;1375932;1376117;15146197;1532945;15489334;15840729;18029348;19166840;19913121;19953087;20628086;21139048;21890473;22863883;22939629;22990118;23000965;23602568;23940030;24654937;24667607;24840943;7689229;8012384;8125298 2287 G3V5F2;Q00688 ABBA01018049;ABBA01018050;ABBA01018051;AK222993;AK311915;AL121809;AMYH02029102;BC016288;BC020809;BI598048;BT006904;CH471078;CN315192;M96256;NM_002013;Z58738 AAA58471;AAH16288;AAH20809;AAP35550;ABM81660;ABM82058;ABM84832;ABM85237;BAD96713;BAG34856;EAW65785;NP_002004;Q00688 Hs.509226 1654711;1684210;1746341;2177907 G36144;G64679;RH91677;SHGC-31929 25 kDa FKBP;FKBP-25;FKBP-3;FKBP25 25 kDa FK506-binding protein;FK506-binding protein 25, T-cell;FK506-binding protein 3 (25kD);OTTHUMP00000178918;PPIase;PPIase FKBP3;immunophilin FKBP25;peptidyl-prolyl cis-trans isomerase FKBP3;rapamycin binding protein;rapamycin-selective 25 kDa immunophilin;rotamase APPROVED protein-coding ENSG00000100442 HGNC:3719 01743 186947 REVIEWED 733402 FKBP4 FK506 binding protein 4, 59kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008] 12 12 12 p13.33 4518032 4528525 + 2904108 2914589 + 2794942 2805423 + 1580863;4892102;5144125;6480464;7421504 16610357;18451092;21784126 10051602;10714679;11164950;11278753;11322937;11350175;11533160;11583998;11751894;12477932;12603528;12604780;12606580;12782134;1279700;1371107;1376003;1383226;14702098;15133031;15159550;15489334;15509512;15591061;15761153;15831525;16341674;16344560;16352746;16873445;16916647;16964243;17343741;17353931;17717070;17893145;18029348;18162540;18654987;18988805;19056867;19197348;19199039;19254810;19545546;19584157;19738201;19875381;19945390;20029029;20133804;20188096;20376328;20442138;20562859;20661446;20726698;20932935;21139048;21170051;21319273;21360678;21890473;21903422;21906983;21963094;22053931;22074005;22190034;22233767;22279148;22505724;22586326;22678819;22797925;22863883;22921020;22939629;22944692;23000965;23166591;23686112;23741051;2378870;24583282;24623856;24749623;24816145;25036637;7887964;8341706;8889548;8955134;9222609;9392437;9405642;9501323;9660753 2288 F5H120;F5H1U3;H0YFG2;H0YG86;Q02790 ABBA01048800;ABBA01048801;AC005841;AK024694;AK313918;AMYH02025885;BC001786;BC002887;BC007924;BQ083177;BQ446607;BU685040;CH471116;DA392592;M88279;NM_002014 AAA36111;AAH01786;AAH07924;ABM84594;ABM86726;BAG36639;EAW88889;EAW88890;NP_002005;Q02790 Hs.524183;Hs.713721 1856025;2133700;2134083;2165610;2175865;2176347 D12S1077;D12S1866;G11814;RH17746;RH67908;WI-15391 FKBP51;FKBP52;FKBP59;HBI;Hsp56;p52 51 kDa FK506-binding protein;FK506-binding protein 4 (59kD);HSP binding immunophilin;OTTHUMP00000115497;PPIase;T-cell FK506-binding protein, 59kD;fk506 binding protein 4 (59 kda);peptidyl-prolyl cis-trans isomerase FKBP4;peptidylprolyl cis-trans isomerase;rotamase APPROVED protein-coding ENSG00000004478 HGNC:3720 11794 600611 REVIEWED 6484028 FKBP4P1 FK506 binding protein 4, 59kDa pseudogene 1 4 4 4 q26 116404929 116407097 - 119113882 119116050 - 118192727 118194895 - 100132656 ABBA01063872;AC110999;AMYH02009984;NG_008629 1856025;2133700 G11814;RH17746 pseudo HGNC:44038 INFERRED 8553175 FKBP4P2 FK506 binding protein 4, 59kDa pseudogene 2 9 9 p12 41776064 41777431 + 39631046 39632413 + 389727 AL590812;AMYH02019939;BX296545;NG_021649 pseudo HGNC:50371 INFERRED 9586215 FKBP4P6 FK506 binding protein 4, 59kDa pseudogene 6 9 9 p11.2 44584986 44586314 - 42384805 42386133 + 100132268 AL162415;AMYH02020171;BX248112;BX649597;NG_021617 pseudo HGNC:50375 INFERRED 9586254 FKBP4P7 FK506 binding protein 4, 59kDa pseudogene 7 9 9 p11.2 47021237 47022839 - 62709936 62711538 - 441410 AMYH02019652;BX664724;NG_008628 pseudo HGNC:50376 INFERRED 8553117 FKBP4P8 FK506 binding protein 4, 59kDa pseudogene 8 9 9 q13 66081968 66083335 - 66744562 66745929 - 643880 AMYH02020699;AMYH02020700;AMYH02020701;AMYH02020702;CR788261;NG_021618 pseudo HGNC:50377 INFERRED 1319338 FKBP5 FK506 binding protein 5 The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] 6 6 6 p21.31 37095325 37250941 - 35541362 35696360 - 35573585 35728583 - 1580863;5144125;6480464;7240710;7421504 16610357;21784126 11076863;11230166;11322937;11350175;11751894;12351405;12477932;12538866;12746298;14676191;14743216;15089760;15302935;15489334;15489336;15565110;15591061;16088328;16210365;16344560;16381901;16421106;17081296;17643375;17721930;17960574;18029348;18180755;18191112;18291582;18320068;18349090;18443959;18597649;18654788;18702710;19056867;19095219;19195790;19199039;19233472;19254810;19282465;19365399;19545546;19560279;19615732;19676097;19696786;19732725;19750552;19875381;19924111;19946888;20008943;20023700;20047716;20048054;20071522;20090668;20093418;20226536;20346245;20376328;20379614;20393453;20398908;20547006;20562859;20605778;20661446;20697350;20709156;20726698;20849924;21036922;21041608;21112363;21170051;21235734;21360678;21440309;21483441;21508514;21536970;21636895;21654733;21730050;21788965;21789663;21832049;21865530;21890473;21903422;21906983;21907973;21917492;22134958;22137507;22213790;22234543;22279148;22420783;22459275;22505724;22548329;22590527;22825419;22863883;22891251;22979952;23000965;23062294;23157339;23201972;23219223;23274505;23324805;23406438;23407841;23429203;23455922;23559012;23602568;23707272;23762334;23857789;23861224;24040820;24749623;24778252;24816145;25036637;7542743;7688746;7693698;8125298;8603045;9001212;9125197;9222609;9660753 2289 B7Z7Z8;Q13451;Q2TA84 AB209893;ABBA01038238;ABBA01038239;ABBA01038240;ABBA01038241;AF194172;AK222807;AK302704;AK303356;AK312422;AL033519;AL122066;AL157823;AL590400;AMYH02013543;AW182642;BC042605;BC111050;BX647390;CH471081;DB066174;KF458140;NG_012645;NM_001145775;NM_001145776;NM_001145777;NM_004117;U42031;U71321;X97300 AAA86245;AAC51189;AAH42605;AAI11051;AAL54872;BAD93130;BAD96527;BAG35332;BAH13784;BAH13948;CAL38619;EAX03841;EAX03842;NP_001139247;NP_001139248;NP_001139249;NP_004108;Q13451 Hs.407190 1668895;1760223;1767598;1777086;1795842;2129015;2148171;2161469;2177535;5015619;5022578;5037552;5117897;7183725 D11S3114;D1S1423;D6S1111E;D6S1645;D8S2279;FKBP5_1361;GDB:631813;RH47153;SGC32907;SHGC-132511;SHGC-32701;SHGC-33930;STS-N39562;STS-R01175 51 kDa FKBP;AIG6;FKBP-5;FKBP-51;FKBP51;FKBP54;MGC111006;P54;Ptg-10 51 kDa FK506-binding protein;51 kDa FK506-binding protein 5;54 kDa progesterone receptor-associated immunophilin;FF1 antigen;HSP90-binding immunophilin;OTTHUMP00000016268;PPIase;PPIase FKBP5;T-cell FK506-binding protein;androgen-regulated protein 6;peptidyl-prolyl cis-trans isomerase FKBP5;peptidylprolyl cis-trans isomerase;rotamase APPROVED protein-coding ENSG00000096060 HGNC:3721 04019 602623;608516 REVIEWED 1318976 FKBP6 FK506 binding protein 6, 36kDa The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 7 7 7 q11.23 68220437 68250915 + 72742155 72772646 + 73328152 73358637 + 1580863;1582483;1582485;6480464;8554872 12764197;9782077 10631136;11322937;12477932;15489334;15696470;15770126;16189514;16227348;16344560;16983454;17307919;18529014;19001379;20378615;21044950;22082156;22610502;25036637 8468 C9JM01;F8WD36;F8WD38;O75344 AA909474;ABBA01063963;AC005049;AC073841;AC211540;AF038847;AF447060;AK302121;AK310255;BC036817;BI461016;CH471200;DB033483;DB450796;DB525126;HC006956;NG_023242;NM_001135211;NM_001281304;NM_003602;XM_005250643;XM_006716152;XM_006716153 AAC64249;AAH36817;AAP97324;ABW03338;ABW03684;ACT64473;ACT64474;BAG63499;CBH19283;EAW69684;EAW69685;EAW69686;NP_001128683;NP_001268233;NP_003593;O75344;XP_005250700;XP_006716215;XP_006716216 Hs.661266 1668832;2189269;2217332 FKBP6_2850;Fkbp6;GDB:1318639 36 kDa FKBP;FKBP-36;FKBP-6;FKBP36;MGC87179 36 kDa FK506-binding protein;FK506-binding protein 6;FK506-binding protein 6 (36kD);OTTHUMP00000197725;OTTHUMP00000210647;OTTHUMP00000210648;OTTHUMP00000210651;PPIase;PPIase FKBP6;immunophilin FKBP36;inactive PPIase FKBP6;inactive peptidyl-prolyl cis-trans isomerase FKBP6;peptidyl-prolyl cis-trans isomerase FKBP6;peptidylprolyl cis-trans isomerase;rotamase APPROVED protein-coding ENSG00000077800 HGNC:3722 05326 604839 REVIEWED 1313236 FKBP7 FK506 binding protein 7 The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008] 2 2 2 q31.2 172931277 172946242 - 179328391 179343646 - 178463664 178478916 - 1580863;6480464;8554872 11162551;12036304;12477932;12975309;15489334;16344560;18029348;21151833;21988832;22939629;23455924;9806833 51661 F8WBF2;F8WCU2;F8WE12;H7BZJ4;Q9Y680 AA447628;ABBA01062244;ABBA01062245;AC009948;AF092137;AF100751;AK292145;AK299215;AMYH02005326;AY353086;AY359015;BC009711;BF210667;BQ003190;BT007122;CH471058;DA020387;NM_001135212;NM_181342;XM_005246638;XR_241312;XR_241313 AAD40379;AAD43015;AAH09711;AAP35786;AAQ57208;AAQ89374;AAX88883;ACE86645;ACE87327;BAF84834;BAG61254;EAX11027;EAX11028;EAX11029;EAX11030;EAX11031;EAX11032;NP_001128684;NP_851939;Q9Y680;XP_005246695 Hs.410378 1795844;2121410 FKBP7_1290;RH46430 23 kDa FKBP;FKBP-23;FKBP-7;FKBP23;MGC9420 23 kDa FK506-binding protein;FK506-binding protein 23;FK506-binding protein 7;OTTHUMP00000163395;OTTHUMP00000225033;PPIase;PPIase FKBP7;peptidyl-prolyl cis-trans isomerase FKBP7;rotamase APPROVED protein-coding ENSG00000079150 HGNC:3723 08451 607062 REVIEWED 1318578 FKBP8 FK506 binding protein 8, 38kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008] 19 19 19 p12 18544773 18556588 - 18642568 18654887 - 18531758 18543573 - 1580863;6480464 10197430;11076863;11230166;12477932;12510191;12894220;15057824;15105374;15489334;15489336;15592455;15733859;15757646;15990872;16169070;16176796;16341674;16381901;16604427;16844119;17024179;17082457;17090549;17353276;17379601;17569659;17573772;17942410;17986458;17991864;18216108;18385096;18459960;18658153;18676370;19147576;19222999;19546213;19615732;19946888;20029029;20048149;20139069;20140889;20707607;20877624;21044950;21139048;21145461;21320469;21360678;21559462;21737445;21890473;21906983;21988832;22030396;22474283;22523079;22645275;22797925;22810585;22939629;23000965;23464991;23602568;23798571;24145868;24295050;24816145;25036637;7543869;8889548 23770 M0R1Q0;M0R1S6;M0R2K9;M0R2Q6;M0R304;Q14318;U3KQ64;U3KQI1;V9GZ05 ABBA01051269;ABBA01051270;AC005387;AK026952;AK300571;AK313363;AL042208;AL555689;AMYH02035733;AMYH02035734;AY225339;AY278607;BC009966;BM719161;BM790404;BQ953871;BX538124;BX647405;BX647720;CH471106;GQ372970;NM_012181;XM_005259841;XM_005259842;XM_005259844 AAC28753;AAH09966;AAO39020;AAQ84561;ABM84011;ABM87352;ACU65096;BAG36163;BAH13306;CAD98028;CAL37783;EAW84709;EAW84710;EAW84711;NP_036313;Q14318;XP_005259898;XP_005259899;XP_005259901 Hs.173464 1656988;1730239;5491848 D15S134E;FKBP8;STS-L37033 38 kDa FKBP;FKBP-38;FKBP-8;FKBP38;FKBPr38;hFKBP38 38 kDa FK506-binding protein;FK506-binding protein 8 (38kD);PPIase FKBP8;peptidyl-prolyl cis-trans isomerase FKBP8;rotamase APPROVED protein-coding ENSG00000105701 HGNC:3724 05327 604840 REVIEWED 1354428 FKBP9 FK506 binding protein 9, 63 kDa ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN protein folding (ortholog); FOUND IN endoplasmic reticulum (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; bleomycin A5 7 7 7 p11.1 32978679 33028367 + 32997005 33046543 + 32957404 33006931 + 1580863;6480464 10524204;12036304;12477932;12690205;12754519;15489334;16303743;16344560;19322201;21906983;22863883 11328 A7YQ73;B7Z230;C9J4P8;O95302 AACC02000103;AB209352;ABBA01056857;ABBA01056858;ABBA01056859;AC083863;AF089745;AK075331;AK128597;AK293440;AK293954;AK294266;AK300328;AK304643;AK316290;AL050187;AMYH02015491;BC007443;BC064418;BC072422;BC099918;BC101723;BC112053;BC127737;BC150541;BC150542;BQ688269;CA427028;DA234297;DC317549;NM_001284341;NM_001284343;NM_007270 AAC78853;AAH07443;AAH64418;AAH72422;AAH99918;AAI01724;AAI12054;BAD92589;BAG52112;BAG54697;BAH11505;BAH11634;BAH11716;BAH13259;BAH14230;BAH14661;EAL24461;EAL24462;NP_001271270;NP_001271272;NP_009201;O95302 Hs.103934 1658523;1687596;1695696;1725195;1795846;1852945;1853700;2116799;2154200;5022651;5037552 A006P36;A007C44;D11S2921;D8S2279;FKBP9_1476;G17146;RH124071;RH41952;RH48546;SHGC-78738;WI-14269 63 kDa FKBP;DKFZp586B1723;FKBP-63;FKBP-9;FKBP60;FKBP63;MGC126772;MGC138258 63 kDa FK506-binding protein;FK506-binding protein 9;OTTHUMP00000123530;PPIase;PPIase FKBP9;peptidyl-prolyl cis-trans isomerase FKBP9;rotamase protein-coding ENSG00000122642 HGNC:3725 06510 VALIDATED 1353952 FKBPL FK506 binding protein like The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33663523 33665106 - 32096484 32098067 - 32128707 32130290 - 1580863;6480464;8554872 10521921;10866283;12477932;15664193;16169070;18669603;19851445;20103631;20210997;21832049;22694956;23457460;23535732;23912458;24250222;25036637;9056895 63943 Q9UIM3 ABBA01038104;AF139374;AK027119;AK291418;AL662828;AL662884;AMYH02013466;BC004168;BC011966;CH471081;CR457374;CR753803;CR925796;NG_033940;NM_022110;U89337 AAF04864;AAF67785;AAH04168;AAH11966;ABM82682;ABM85864;BAB15663;BAF84107;CAG33655;EAX03586;EAX03587;NP_071393;Q9UIM3 Hs.520042 1687938 RH92380 DIR1;NG7;WISP39 FK506-binding protein like;FK506-binding protein-like;OTTHUMP00000029170;WAF-1/CIP1 stabilizing protein 39 APPROVED protein-coding ENSG00000204315 HGNC:13949 16901 REVIEWED 1350622 FKBP9P1 FK506 binding protein 9 pseudogene 1 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN protein folding (inferred) 7 7 7 p11.1 33004541 33028362 + 55748767 55772260 - 55681074 55704567 - 737633;6480464 12477932 21906983;9847074 360132 Q75LS8 ABBA01006030;AC091812;AK289438;AK312981;AMYH02015736;BC011872;BM014562;BM041005;NR_003949;NR_027339;NR_027340;NR_027342 AAQ93369;BAF82127;BAG35818 Hs.446691 1795846 FKBP9_1476 FKBP9L;MGC20531 APPROVED pseudo ENSG00000176826 HGNC:23568 16900 VALIDATED 1605023 FKSG83 FKSG83 6 6 p22.1 28898591 28899755 + 27292578 27293742 + 12477932 83954 Q3KNW7;Q7LBC9 AF336874;AF352327;AL021808;BC107050;CH471081;NM_032030 AAI07051;AAK21300;AAK32715;EAX03091;EAX03092;NP_114419;Q3KNW7;Q7LBC9;Q9BX81 Hs.326753 5493055 UniSTS:484061 MGC129573 protein-coding 13327 MODEL 1320791 FKTN fukutin The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010] 9 9 9 q31-q33 78825571 78908566 + 108320411 108403399 + 105558130 105641118 + 1598929;1580863;6480464;7240710;8554872;8699517 9690476 10067123;10545611;10734260;10817652;11115853;11165248;11445638;12172906;12471058;12477932;12601708;14627679;15103718;15164053;15213246;15489334;16344560;17005282;17036286;17044012;17319799;17878207;18177472;18752264;18808525;18834683;19015585;19179078;19266496;19299310;19342235;19396839;19448620;20301385;20301468;20301486;20301582;20620061;20961758;21232131;21979053;22589738;24530477;8275093;9119396 2218 B4E2W4;H7C3W5;I7HFV8;I7HPB4;O75072;R4GMU0 AB008226;AB038490;AB609007;ABBA01042813;ABBA01042814;AK300840;AK304460;AL158070;AL601876;AMYH02021399;AW014603;BC058842;BC101808;BC112038;BC117699;BC117700;CH471105;DA917113;NG_008754;NM_001079802;NM_001198963;NM_006731;XM_005251803;XM_005251804;XM_006717006;XM_006717007;XM_006717008;XM_006717009;XM_006717010;XM_006717011;XM_006717012;XM_006717013;XM_006717014 AAI01809;AAI12039;AAI17700;AAI17701;BAA32000;BAA94082;BAG62491;BAG65276;BAL04096;EAW59001;NP_001073270;NP_001185892;NP_006722;O75072;XP_005251860;XP_005251861;XP_006717069;XP_006717070;XP_006717071;XP_006717072;XP_006717073;XP_006717074;XP_006717075;XP_006717076;XP_006717077 Hs.55777 1674425;1727643;2136224;5015961;5022200;5022450;5037552;5037670 D10S275;D15S1477;D3S4354;D8S2279;G63232;L18426;SHGC-54256;STS-N41001 CMD1X;FCMD;LGMD2M;MDDGA4;MDDGB4;MDDGC4;MGC126857;MGC134944;MGC134945;MGC138243 Fukuyama type congenital muscular dystrophy protein;OTTHUMP00000021841;fukuyama-type congenital muscular dystrophy protein;patient fukutin APPROVED protein-coding ENSG00000106692 HGNC:3622 06308 253800;607440;611588;611615;613152 REVIEWED 1604288 FLAD1 flavin adenine dinucleotide synthetase 1 This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 128026794 128036611 + 154955770 154965587 + 154983294 154993111 + 6480464;6907045;8554872 12477932;14702039;16189514;16643857;19240958;20186120;21139048;21900206;21988832;22190034;22939629;23535732;24778252;8619474;9110174 80308 Q5T190;Q5T191;Q5T196;Q8NFF5 ABBA01016723;AF218022;AF481877;AF520568;AK025979;AK090542;AK308243;AL451085;AMYH02001935;AMYH02001936;BC011378;BC014012;BC020253;BC021096;BC032323;BI919061;CH471121;DC371856;DQ458779;NM_001184891;NM_001184892;NM_025207;NM_201398;U79241;XM_005245502;XM_005245503;XM_006711557;XM_006711558;XM_006711559;XR_241098;XR_426798 AAB50199;AAG17264;AAH11378;AAH14012;AAH20253;AAH21096;AAH32323;AAM77338;AAO49318;ABE65383;ABM81905;ABM85078;BAG52181;EAW53153;EAW53154;EAW53155;EAW53156;EAW53157;EAW53158;EAW53159;NP_001171820;NP_001171821;NP_079483;NP_958800;Q8NFF5;XP_005245559;XP_005245560;XP_006711620;XP_006711621;XP_006711622 Hs.118666 2157760;5015961;5037552;5120999 D15S1477;D8S2279;RH64598;RH71261 FAD1;FADS;MGC31803;MGC40255;PP591;RP11-307C12.7 FAD pyrophosphorylase;FAD synthase;FAD synthetase;FAD-synthetase;FAD1 flavin adenine dinucleotide synthetase homolog;FMN adenylyltransferase;Fad1, flavin adenine dinucleotide synthetase, homolog;OTTHUMP00000035547;OTTHUMP00000035548;OTTHUMP00000035549;OTTHUMP00000035551;flavin adenine dinucleotide synthase;flavin adenine dinucleotide synthetase APPROVED protein-coding ENSG00000160688 HGNC:24671 17887 610595 REVIEWED 1603471 FLG2 filaggrin family member 2 ENCODES a protein that exhibits calcium ion binding (inferred); structural molecule activity (inferred); INVOLVED IN establishment of skin barrier; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; dioxygen (ortholog); lead diacetate (ortholog) 1 1 1 q21.3 125432241 125443280 - 152321213 152332482 - 152348737 152360006 - 6480464;8554872 12477932;19384417;19601998;20448150;21139048;21145461;21319273;21531719;21565611;22268729;22354994;23455922;23568457;23862649;24184149;24813994 388698 Q5D862 ABBA01049414;AL356504;AMYH02001891;AY827490;BC029685;BC063543;BC108269;BX095286;DQ118293;NM_001014342 AAX12417;AAZ99029;NP_001014364;Q5D862 Hs.156124 5015619;5037552 D11S3114;D8S2279 FLG-2;IFPS OTTHUMP00000014119;filaggrin 2;filaggrin-2;ifapsoriasin;intermediate filament-associated and psoriasis susceptibility protein;intermediate filament-associated and psoriasis-susceptibility protein protein-coding ENSG00000143520 HGNC:33276 11815 PROVISIONAL 1314133 FKRP fukutin related protein This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008] 19 19 19 q13.32 44052833 44066103 + 47249303 47261832 + 46746046 46758575 + 1358626;1598944;1580863;6480464;7240710;8554872;8699517 11741828;14652796 10198165;11053680;11071142;11592034;11801394;12477932;12654965;12666124;12707439;14523375;14702039;15121789;15213246;15489334;15574464;15580560;15833432;15883334;16055117;16344347;16344560;16751776;17055682;17113772;17336067;17351538;17446099;17952692;18060779;18593008;18645206;18671187;19299310;19820980;19900540;19917824;19955119;20236121;20301468;20301582;20961759;21172462;21296577;21311896;21886772;23800702;24250222;8889548 79147 M0QX03;M0QXT8;M0QYR2;M0QYV4;M0QYV8;M0QZ46;M0QZ68;M0R005;M0R016;M0R092;M0R0G0;M0R112;M0R1M1;M0R274;M0R2U3;M0R342;Q9H9S5 ABBA01040985;AC008622;AJ314847;AK022638;AK095497;AK291282;AMYH02036237;AW504292;AX879500;BC002612;BM979509;CH471126;CX866271;DA123579;DB090073;DN999716;NG_008898;NM_001039885;NM_024301;XM_005259247;XM_005259248;XM_005259249;XM_005259250;XM_006723373;XM_006723374;XM_006723375 AAH02612;ABM84531;ABM86053;BAB14146;BAF83971;BAG53071;CAC85633;CAE90537;EAW57444;EAW57445;NP_001034974;NP_077277;Q9H9S5;XP_005259304;XP_005259305;XP_005259306;XP_005259307;XP_006723436;XP_006723437;XP_006723438 Hs.515493 2125996 A008J01 FLJ12576;LGMD2I;MDC1C;MDDGA5;MDDGB5;MDDGC5;MGC2991 fukutin-related protein APPROVED protein-coding ENSG00000181027 HGNC:17997 05962 606596;606612;607155;613153 REVIEWED 6480161 FLG-AS1 FLG antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q21.3 125396923 125450107 + 152285935 152339168 + 152313459 152366692 + 8554872 12477932;14702039;20691247;21666691;23568457 339400 ABBA01049414;ABBA01049415;AK056431;AL135842;AL356504;AMYH02001891;BC041408;HG492770;HG492771;NR_103778;NR_103779 Hs.23783 1650272;2148798 RH12458;WI-15174 RP1-14N1.2 APPROVED ncrna ENSG00000237975 HGNC:27913 VALIDATED 1604509 FLCN folliculin This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18055113 18080089 - 17115523 17140502 - 17212209 17237190 - 6480464;6907045;7240710;8554872;8699517 11526515;11533913;12204536;12471204;12477932;12746401;12843323;12907635;14627671;14702039;14961590;15489334;15579035;15657874;15852235;15956655;16344560;16636660;16870330;17028174;17149965;17207965;17496196;18029348;18206534;18234728;18403135;18505456;18573707;18579543;18663353;18709329;19116017;19234517;19327534;19483054;20227563;20301695;20413710;20522427;20562859;20618353;21079084;21139048;21209915;21258407;21412933;21496834;21538689;21832049;21890473;22146830;22190034;22211584;22446046;22709692;22965878;22977732;22990118;23077212;23139756;23150719;23155228;23264078;23414156;23416984;23784378;23824909;23874397;24095279;24762438;24996715 201163 C9J4C4;J3QQZ7;Q8NFG4 ABBA01009767;ABBA01009768;AC055811;AF517523;AK126951;AK127912;AK309336;AL831885;AMYH02033088;BC015687;BC015725;BQ423946;CH471196;CS478258;CX759825;DA461022;DA944035;NG_008001;NM_144606;NM_144997;XM_005256515;XM_006721470;XR_429812 AAH15687;AAH15725;AAM94803;ADQ31685;BAC86760;BAC87186;CAD38565;CAM35387;EAW55715;EAW55716;NP_653207;NP_659434;Q8NFG4;XP_005256572;XP_006721533 Hs.31652 1299928;1341038;1679612;5015619;5015861;5015961;5022450;5022578;5022651;5024761;5037552;5108775;7185938 D10S16;D10S275;D11S2921;D11S3114;D15S1477;D17S2196;D17S740;D1S1423;D3S1674;D8S2279;RH36905;RH98335 BHD;DKFZp547A118;FLCL;FLJ45004;FLJ99377;MGC17998;MGC23445 BHD skin lesion fibrofolliculoma protein;OTTHUMP00000065503;OTTHUMP00000065504;OTTHUMP00000065507;birt-Hogg-Dube syndrome protein APPROVED protein-coding ENSG00000154803 HGNC:27310 06278 114500;135150;144700;173600;607273 REVIEWED 1606505 FLJ12684 hypothetical protein FLJ12684 FOUND IN integral component of membrane (inferred); viral envelope (inferred) q12 12477932;14702039 79584 Q0P5R3;Q6NWN0;Q6NWN2;Q9H9K5 AC104066;AK022746;AK095318;AY189288;BC067526;BC067527;BC067528;BC067529;BC069998;BP871936;CH471057;NM_024534 AAH67526;AAH67528;AAH67529;AAH69998;AAO86732;BAB14220;EAX05439;NP_078810;Q0P5R3;Q6NWN0;Q6NWN2;Q9H9K5 Hs.363087 protein-coding 07790 5686957 FLJ16171 FLJ16171 protein 5 5 q35.2 174346085 174422734 - 174919082 174995731 - 441116 ABBA01044000;AC008413;AK131247;AMYH02012797;HG498794;NR_046113 Hs.533036 ncrna ENSG00000204754 16911 VALIDATED 1605337 FLJ11783 hypothetical protein FLJ11783 q23.3 14702039 79951 AK021845;AP001267;CH471065;NM_024891 BAB13909;EAW67385;NP_079167;Q9HAE0 Hs.664477 protein-coding 08567 1602267 FLJ26056 hypothetical protein LOC375127 q11.21 375127 Q6ZPC6 AC008079;AC011718;AK129567;NM_201401;XM_001126757 BAC85185;NP_958803;Q6ZPC6;XP_001126757 Hs.535667;Hs.652126 protein-coding 16925 1606078 FLJ26850 FLJ26850 protein ASSOCIATED WITH Lung Neoplasms (inferred) 19 19 19 q13.33 47423205 47439323 + 50553937 50570052 + 50050680 50066795 + 8554872 12477932 400710 ABBA01032904;AC010624;AK130360;AMYH02036335;AW014112;AW026143;BC130542;BC130544;HG510946;NR_027257 BAC85332 Hs.628968 1679772 RH94122 MGC163414;MGC163416 ncrna ENSG00000204666 16927 PREDICTED 1603269 FLJ31958 hypothetical protein FLJ31958 q11.23 14702039 143153 Q96MT0 AK056520 BAB71202;Q96MT0 Hs.706372 protein-coding 08114 1603264 FLJ32154 hypothetical protein FLJ32154 20 20 q13.33 57947974 57950559 - 61272071 61274656 - 14702039 149650 Q5JT57 AK056716;AL357033;CH471077;XM_003119825;XR_109590;XR_115399 CAI17067;EAW75354;Q5JT57;XP_003119873 Hs.173280 RP11-93B14.6 hypothetical protein LOC149650 protein-coding 08121 MODEL 1604419 FLJ32679 golgin-like hypothetical protein LOC440321 p13 12477932;14702039;17672918 440321 AC139511;AK057241;AK292534;BC099913;BC110417;BC144672;BC150302;DQ309038;NM_001012452 AAH99913;AAI10418;AAI50303;ABD73922;BAF85223;NP_001012455 Hs.510812;Hs.648235 MGC102859;MGC104696 protein-coding 16932 1607013 FLJ20209 hypothetical LOC57245 p21.31 12477932 57245 AC098649;AK000216;AK127837;AL832057;BC101284;BC101285;BC101286;BC101287;BC113070;XM_933464;XM_944968 Q6ZRZ9;XP_938557;XP_950061 Hs.61430 miscrna 08615 1604906 FLJ33360 FLJ33360 protein 5 5 5 p15.31 6336528 6363377 - 6310554 6339743 - 6310441 6337292 - 12477932;14702039;20379614;23381943 401172 Q8NBE2 ABBA01016143;AC010635;AK090679;AMYH02010803;BC132707;BC132709;CH471102;HG497709;NR_028351 AAI32708;AAI32710;BAC03503;EAX08111 Hs.376760 1335537;1658971;7187791 CHLC.GAAT4B03;D5S635 ncrna ENSG00000250490 16934 VALIDATED 2298831 FLJ25758 MAP/microtubule affinity-regulating kinase 1 pseudogene 19 19 19 p13.3 6947206 6948668 - 7004964 7006426 - 7004953 7006415 - 12477932 497049 ABBA01018531;AC025278;AK098624;AMYH02035368;AY090781;BC033035;BC110987;CH471139;NR_024372 AAM09817;EAW69052 Hs.367930 MGC111465 APPROVED pseudo 16923 VALIDATED 4108107 FLJ33534 uncharacterized LOC285150 2 2 2 p25.1 11173731 11188762 - 11239977 11272302 - 11099851 11132176 - 12477932;14702039;23251661;23319000 285150 Q8N2B8 ABBA01015639;ABBA01015640;ABBA01015641;AC062028;AK090853;AMYH02003279;AMYH02003280;BC111723;CH471053;HG493649;HG493650;NR_040080 AAI11724;BAC03531;EAX00945;Q8N2B8 Hs.329841 AC062028.1;MGC133163 APPROVED ncrna ENSG00000145063 08158 VALIDATED 2304162 FLJ34503 uncharacterized FLJ34503 6 6 6 q21 114966947 114984185 + 114225551 114242806 + 113904387 113921642 + 12477932;14702039 285759 ABBA01026063;AK091822;AL671967;AMYH02014333;BC093647;BC101497;CH471051;FO393415;HG499564;NR_027060 BAC03756;EAW48257 Hs.376634 1650606;1666570 D6S1057;D6S499 MGC126546;RP11-544L8__B.4 APPROVED ncrna ENSG00000175967 08173 PREDICTED 1602047 FLJ36131 hypothetical protein FLJ36131 FOUND IN integral component of membrane (inferred) q11.2 12477932;14702039 338999 Q8N9W7 AC138750;AK093450;BC127816;XM_001722016;XM_001722364;XM_001722366 AAI27817;BAC04170;Q8N9W7;XP_001722068;XP_001722416;XP_001722418 Hs.531569;Hs.569472 protein-coding 08205 1601922 FLJ37396 transmembrane protein FLJ37396 6 6 q21 110232901 110338155 + 109572062 109608597 + 14702039 285754 AK094715;AL355305;AL359712;CH471051;XM_003403516;XM_003403795 BAC04406;EAW48358;EAW48359;EAW48360;Q8N1W0;XP_003403564;XP_003403843 1669475;1768044;1849426 RH45011;RH46650;WI-15070 hypothetical protein LOC285754 APPROVED protein-coding 08222 MODEL 1320394 FLI1 Fli-1 proto-oncogene, ETS transcription factor This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 11 11 11 q24.1-q24.3 125728561 125849286 + 128556430 128683162 + 128686535 128813267 + 1582490;1580863;6480464;8554872 15232614 10364157;10606656;10827180;10891501;10949935;11118632;11313879;12359731;12477932;12556498;12724402;12739001;12743594;12875977;1394211;1445800;14534527;15021903;1522903;15231748;15273724;15282325;15489334;15735734;15798196;15809330;15919668;16148010;16802366;16829517;16930139;16964281;16990252;17163154;1765382;17727680;17884818;18174230;18414662;1845910;18648544;18785112;19158279;19349856;19417137;19530039;19859563;20019092;20103643;20211142;20228226;20308669;20308673;20379614;20382729;20665663;20676125;20879862;20881960;20933505;21087477;21321929;21451544;21571218;21633373;21643012;21890473;21917756;21931859;22081504;22086061;22372906;22446963;22887642;22930730;22965552;23041765;23049088;23145994;23165331;23178492;23182705;23327922;23441188;23518636;23667468;23774214;23926301;23940108;24055811;24058639;24100448;24124617;24375017;24816145;7542907;7773776;8039423;8246959;8339272;8439553;8604338;8679708;9010223;9651344;9681824;9751743;9764825 2313 Q01543;V9GY62;V9GZ02 AB012624;AB012625;ABBA01023010;ABBA01023011;ABBA01023012;AF147318;AF275879;AI354789;AK294279;AK300153;AK313370;AMYH02025764;AMYH02025765;AP001122;AY029368;BC001670;BC010115;BX647094;CH471065;D38408;DC381599;JC009136;M93255;M98833;NG_032912;NM_001167681;NM_001271010;NM_001271012;NM_002017;S45205;S64709;X67001;Y17293 AAA35812;AAA58479;AAA58480;AAA76854;AAB23637;AAG33027;AAH01670;AAH10115;AAK50443;ABM83508;ABM87857;BAA07463;BAA32805;BAA32806;BAG36169;BAG57565;BAG61938;CAA47399;CAA76731;CDL93502;EAW67715;EAW67716;EAW67717;EAW67718;EAW67719;EAW67720;NP_001161153;NP_001257939;NP_001257941;NP_002008;Q01543 Hs.504281 1299919;1342406;1645437;1685904;1699390;1706872;1724455;1731235;1737835;1742489;2124609;2138407;2141904;2142695;2143905;2151582;2181716;2184367;5093342;7185012 A009L40;D11S3447;D11S4123;D11S450;D11S4644;D11S912;FLI1;G32663;GDB:197560;RH103284;RH122391;RH17766;RH46535;RH70077;RH94112;SHGC-33899;SHGC-80921;STS-R74314;WI-17410 EWSR2;SIC-1 Ewing sarcoma breakpoint region 2;Friend leukemia integration 1 transcription factor;Friend leukemia virus integration 1;OTTHUMP00000230978;OTTHUMP00000230979;OTTHUMP00000230981;proto-oncogene Fli-1;transcription factor ERGB APPROVED protein-coding ENSG00000151702 HGNC:3749 01901 193067 REVIEWED 4108125 FLJ35934 FLJ35934 17 17 p11.2 18314479 18317694 + 18411159 18414388 + 12477932;14702039 400579 Q8NA20 ABBA01009728;AK093253;AL353997;AMYH02033115;AMYH02033116;BC033201;NR_104343 BAC04110 Hs.375092 5015961 D15S1477 ncrna ENSG00000220161 13421 VALIDATED 1602963 FLJ38723 uncharacterized FLJ38723 15 15 q22.2 39424918 39492715 - 62534950 62562879 - 12477932;14702039;16751776 255180 ABBA01038927;ABBA01038928;AC126323;AK096042;AMYH01006697;BC131692;CH471082;DQ596595;XR_132593;XR_133071;XR_172108 AAI31693;BAC04685;EAW77611;EAW77612;EAW77613;Q8N8X6 Hs.370479 1659073;1698072;1698282;1766493 RH102568;RH102678;SHGC-149814;STS-N28260 APPROVED miscrna 08792 MODEL 1602156 FLJ40453 FLJ40453 protein q35.1 14702039 401217 Q8N7Q8 AC008671;AK097772;NM_001007542 BAC05169;NP_001007543;Q8N7Q8 Hs.531911 5021396;5037552 D8S2279;GDB:313783 protein-coding 16951 737239 FLG filaggrin The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] 1 1 1 q21.3 125386606 125408667 - 152274651 152297679 - 152302175 152325203 - 1598947;1580863;6480464;7240710;8554872;8699517 16444271 11279517;11380615;12230510;12838398;12850301;1429717;15675958;16261374;16550169;16570058;16710414;16810297;16815158;16990802;17008875;17096018;17195011;17255953;17291859;17301831;17380114;17410197;17417636;17502856;17531295;17581619;17657246;17684752;17704059;17704064;17970802;17980411;17989887;18005116;18007582;18032906;18049447;18068483;18073125;18094728;18172455;18176743;18193244;18200065;18239616;18305568;18307574;18313126;18325573;18384254;18385759;18396323;18420385;18521703;18565177;18578563;18620134;18637008;18760831;18769192;18774391;18818676;18843291;18976374;18987673;19037238;19134432;19183181;19239468;19247692;19348926;19408338;19492053;19501237;19515043;19538184;19538357;19550302;19589816;19601982;19601998;19602001;19615732;19663875;19681860;19720210;19733298;19785597;19804695;19839980;19863505;19874431;19958351;20016199;20028371;20109745;20132155;20149601;20159264;20179351;20208004;20222934;20230798;20346018;20426775;2043621;20445547;20500796;20513523;20573035;20621340;20629673;20686498;20800603;20814636;20865458;20943104;20962854;20975288;21039602;21074596;21137118;21139048;21145461;21166815;21219289;21255094;21261659;21289640;21326297;21365004;21410766;21426411;21434976;21496060;21501248;21514438;21518425;21576945;21666691;21692775;21701148;21723775;21777221;21790526;21800051;21923666;21923691;21945601;21983738;21991953;21999178;22030464;22071473;22088612;22158554;22177328;22182180;22220561;22229441;22288457;22299762;22322004;22360978;22381027;22403702;22407025;22418870;2248957;22612618;22622429;22635822;22742591;22897780;22903496;22921868;22951058;22960809;22962861;22964107;22989708;23039796;23063684;23078034;23152869;23154627;23166590;23273645;23290076;23297869;23301728;23343419;23421459;23443559;23460889;23537643;23548340;23568457;23601069;23622014;23629652;23645350;23657503;23684069;23744309;23848345;23867897;23886662;23927042;23947670;24054371;24061166;24102300;24157460;24247645;24369804;24401911;24457600;24726196;24813994;2579164;2740331;4132224;6174530;8270625;8417356;8780679;9886436 2312 P20930 AB208881;ABBA01049414;AF043380;AL356504;AMYH02001891;CH471121;CS673440;CS690823;FB665576;GM706788;L01089;L01090;M24355;M60494;M60495;M60499;M60500;M60502;M96943;NG_016190;NM_002016 AAA36487;AAA52454;AAA60176;AAA60177;AAA63244;AAA63245;AAA63246;AAA63247;AAA63248;AAC23559;ACX32320;BAD92118;CAP07487;CAP11455;CAR97069;CAT82291;EAW53383;EAW53384;EAW53385;NP_002007;P20930 Hs.654510 1331565;1336648;1649663;5015145;5493379 D1S1653;D1S252;D1S3436;SHGC-144331;UniSTS:485881 ATOD2 OTTHUMP00000014057;epidermal filaggrin APPROVED protein-coding ENSG00000143631 HGNC:3748 15920 135940;146700;605803 REVIEWED 1604678 FLJ41170 FLJ41170 protein q32.31 440200 Q6ZWF7 AK123165;AL132709;BC132807;NM_001004332 AAI32808;BAC85546;NP_001004332;Q6ZWF7 Hs.611431 5015619;5015861;5015961;5022322;5037552;7185938 D10S16;D11S2560;D11S3114;D15S1477;D8S2279 protein-coding 13450 1602796 FLJ41733 FLJ41733 protein q22.3 400870 Q6ZW23 AK123727;AP001046;NM_207473 BAC85684;NP_997356;Q6ZW23 Hs.517320 protein-coding 16955 1602150 FLJ41841 FLJ41841 protein ENCODES a protein that exhibits hedgehog receptor activity (inferred); INVOLVED IN signal transduction (inferred); FOUND IN integral component of membrane (inferred) p12.3 401263 Q6ZW05 AK123835;AL121973;AL139336;AL161622;AL353138;NM_207499 BAC85703;NP_997382;Q6ZW05 Hs.659409 protein-coding 13455 1605179 FLJ42258 FLJ42258 protein q13.2 440049 Q6ZVP4 AK124252;AP001888;BC133014;BC133018;NM_001004327 AAI33015;AAI33019;BAC85817;NP_001004327;Q6ZVP4 Hs.653187 protein-coding 13461 2298827 FLJ42393 uncharacterized LOC401105 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 3 q27.3 186326822 186329085 + 187896331 187898596 + 188178543 188180808 + 8554872 12477932;12975309 401105 Q6ZVL7 ABBA01058359;AC022498;AK124384;AMYH02008377;AY358227;BC132980;BC132982;NG_016932;NR_024413 AAQ88594;BAC85844 Hs.679026 1696048 SHGC-83198 AVPC1948 APPROVED ncrna ENSG00000279891 16962 VALIDATED 1603344 FLJ40288 uncharacterized FLJ40288 7 7 7 q32.3 127162025 127164879 + 132333553 132413528 + 132648794 132728769 + 14702039 286023 A4D1N5 ABBA01001094;AC009365;AK097607;AMYH02016781;CH236950;CH471070;LN608163;NR_046323 A4D1N5;BAC05118;EAL24075;EAW83797;EAW83798 Hs.671875 APPROVED ncrna ENSG00000183470 08276 VALIDATED 1606088 FLJ42986 FLJ42986 protein ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) q11.2 389012 Q6ZNB4 AC092570;AK124976;AK131289;CH471127;XM_001127714;XM_001128206 BAC86013;BAD18461;EAX01812;EAX01813;Q6ZNB4;Q6ZV50;XP_001127714;XP_001128206 Hs.647811 protein-coding 13469 1602799 FLJ43806 hypothetical protein FLJ43806 p36.21 12477932;14702039;8619474;9110174 399563 Q5TGF1;Q6ZUD1 AF052120;AK057155;AK125388;AK125794;AL034395;AL035405;AL391215;BC101637;BC113621;BX648256;NM_201628 AAI01638;AAI13622;BAC86294;CAI13901;CAI19832;CAI19921;NP_963922;Q5TGF1;Q6ZUD1 Hs.631868 MGC126686;RP1-21O18.1 protein-coding 16967 1316872 FLII flightless I homolog (Drosophila) This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 19089264 19103169 - 18148129 18162230 - 18244815 18258916 - 1580863;6480464;8554872 10366446;11171324;11971982;11997338;12477932;12665801;14966289;15302935;15489334;16169070;16424162;16964243;17081983;17114343;17526423;18029348;18187620;18588881;19265123;19293151;19720835;19829305;19875381;19913121;20223827;20473970;20628086;21139048;21890473;21906983;21963094;21987572;22718342;22863883;22939629;22990118;23000965;23182705;23398456;24632205;24816145;25027693;7825574;8248259;8889548;9177775;9525888;9671805 2314 J3KS39;J3KS54;J3KT47;J3QLR6;J3QQQ2;J3QQU5;K7EJJ7;K7EP27;K7EP37;K7EQZ7;Q13045 AB208864;ABBA01009736;AC127537;AK295655;AK295814;AK297836;AK310400;AMYH02033111;AMYH02033112;BC001582;BC017030;BC021885;BC025300;BM930929;CH471196;DC341570;NG_023243;NM_001256264;NM_001256265;NM_002018;U01184;U80184;XM_005256555;XM_005256556;XM_005256558 AAC02796;AAC03568;AAH25300;ABM84547;ABM87849;BAD92101;BAG58522;BAG58632;BAG60170;EAW55653;EAW55654;EAW55655;EAW55656;NP_001243193;NP_001243194;NP_002009;Q13045;XP_005256612;XP_005256613;XP_005256615 Hs.513984 1684236;1689296;5119193 D17S1711;RH39400;SHGC-12561 FLI;FLIL;Fli1;MGC39265 OTTHUMP00000065689;protein flightless-1 homolog APPROVED protein-coding ENSG00000177731 HGNC:3750 02647 600362 REVIEWED 1605186 FLJ44076 FLJ44076 protein q12.1 401080 Q6ZU06 AC069222;AK126064;BC132843;BC132847;NM_207486 AAI32844;AAI32848;BAC86421;NP_997369;Q6ZU06 Hs.518032 protein-coding 16973 1601790 FLJ44635 TPT1-like protein FOUND IN extracellular vesicular exosome X X X q13.1 71708214 71725703 + 71364034 71381600 + 72144184 72161750 + 12477932;14702039;21890473;21906983;23000965;25015289 392490 Q56UQ5 ABBA01046187;ABBA01046188;ABBA01046189;ABBA01046190;AK126598;AMYH02039699;AY572224;BC137552;BC137564;BX119917;NM_207422 AAI37553;AAI37565;AAS76644;BAC86606;NP_997305;Q56UQ5 Hs.660859 1663908;1681664;1690658;1722679;1731429;2137793;2156606 AFM311zg1;DXS1178;DXS6743;G60424;RH41035;RH91907;WI-15592 protein-coding 13491 VALIDATED 1602149 FLJ44955 FLJ44955 protein q24.3 12477932 401278 Q6ZT50 AK126903;AL023806;BC118596;BC122560;NM_207500 AAI18597;AAI22561;BAC86744;NP_997383;Q6ZT50 Hs.648061 protein-coding 16978 1603236 FLJ45121 FLJ45121 protein q24.3 400556 Q6ZSY7 AC138028;AK127064;CH471184;NM_207451 BAC86809;EAW66774;NP_997334;Q6ZSY7 Hs.437712 protein-coding 13499 1603144 FLJ45079 FLJ45079 protein 17 17 17 q25.3 72470678 72475764 - 75875083 75880169 - 77879001 77884087 - 400624 Q6ZRC4 ABBA01002950;AC015804;AK127023;AK128332;AMYH02034045;CH471099;NR_028337 BAC86792;BAC87388;EAW89479 Hs.514521 1770315 D17S615 FLJ46474 ncrna ENSG00000204283 16979 VALIDATED 1606071 FLJ45337 FLJ45337 protein p32.3 400754 Q6ZSN9 AK127270;AL603840;AL691473;NM_207465 BAC86909;NP_997348;Q6ZSN9 protein-coding 16986 1605773 FLJ45422 FLJ45422 protein p21.33 12477932 441140 Q6ZSK9 AK127349;AL662782;AL662832;AL844220;BC139904;BC141846;CH471081;NM_001004349 AAI39905;AAI41847;BAC86939;EAX03278;EAX03279;NP_001004349;Q6ZSK9 Hs.656020 protein-coding 16987 4108631 FLJ40194 uncharacterized FLJ40194 17 17 17 q21.32 43780045 43790468 + 47325605 47336027 + 49248243 49258665 + 14702039;23535732 124871 Q8N7Z3 ABBA01041194;ABBA01041195;AC004797;AK097513;AMYH02033564;AMYH02033565;BI463223;CH471109;NR_034161 BAC05083;EAW94685 Hs.446890 5014055;5015619;5016478;5024039;5037552;5117897 D11S3114;D16S325;D1S3697;D8S2279;GDB:434012;GDB:631813 APPROVED ncrna ENSG00000177369 16950 VALIDATED 1606086 FLJ46347 hypothetical LOC389064 q31.1 389064 Q6ZRH9 AC018470;AK128215;NM_001005303 BAC87331;NP_001005303;Q6ZRH9 Hs.516603 protein-coding 13532 1603807 FLJ46836 FLJ46836 protein q34.11 401554 Q6ZQW9 AK128673;AL360004;BC132936;NM_207509 AAI32937;BAC87564;NP_997392;Q6ZQW9 Hs.522437 protein-coding 13541 5144637 FLNB-AS1 FLNB antisense RNA 1 3 3 58162838 58170911 - 58148274 58156345 - 100506906 XR_110014;XR_112495 1645425;1677014;1776775;2130494;2174596 D3S3923;RH78421;SHGC-77042;STS-H01996;STS-M62994 APPROVED ncrna HGNC:40239 5133630 FLJ42102 uncharacterized LOC399923 11 11 11 q13.4 68410955 68411452 - 71116792 71134400 - 71405746 71423354 - 399923 Q6ZVU0 ABBA01017551;AK124096;AMYH02025067;AP002387;NR_038862 Q6ZVU0 Hs.128191 5015619;5037552 D11S3114;D8S2279 APPROVED ncrna ENSG00000172900 13457 VALIDATED 4108658 FLJ43879 FLJ43879 protein 2 2 2 q37.3 233536808 233543775 - 239840998 239847965 - 238919302 238926269 - 401039 Q6ZUA0 ABBA01033525;AC114788;AC142117;AK125867;AMYH02006078;HG495350;NR_034162 BAC86326 Hs.516791 AC114788.2 ncrna ENSG00000227744 16969 VALIDATED 1606627 FLJ46838 FLJ46838 protein p16.3 440865 AC073082;AK128867;NM_001007546 NP_001007547;Q6ZQN3 Hs.674050 protein-coding 17005 1345456 FLRT1 fibronectin leucine rich transmembrane protein 1 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 61198290 61212755 + 63803442 63886655 + 64035970 64119183 + 1580863;6480464;8554872 10644439;12477932;12975309;20421966;23128233;24482476;8619474;9110174 23769 O43408;Q9NZU1 ABBA01003285;AF007139;AF169675;AK289931;AMYH02024929;AP000721;AP006333;AX119984;AY358308;BC018370;CH471076;HG503844;NM_013280;XM_005273861 AAC19151;AAF28459;AAH18370;AAQ88675;ADZ15504;BAF82620;CAC38719;EAW74194;NP_037412;Q9NZU1;XP_005273918 Hs.584876 1645604;2109311 FLRT1__6736;STS-R38365 MGC21624;RP11-21A7A.2;SPG68 OTTHUMP00000236865;fibronectin-like domain-containing leucine-rich transmembrane protein 1;leucine-rich repeat transmembrane protein FLRT1 APPROVED protein-coding ENSG00000126500 HGNC:3760 05311 604806 REVIEWED 1318426 FLRT2 fibronectin leucine rich transmembrane protein 2 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRT family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. [provided by RefSeq, Jul 2008] 14 14 14 q24-q32 66040840 66138639 + 85996411 86095040 + 85530067 85628696 + 1580863;6480464;8554872 10644439;12477932;12975309;14702039;15340161;15489334;16872596;19834535;22424883;23583979;23599027;23720494;8889548;9455477 23768 B3KPR2;O43155 AA442817;ABBA01030574;AF169676;AK056649;AL049775;AL132641;AL136241;AMYH02029663;AY358287;BC126249;BC130290;BC143936;BQ012006;CB267726;CB306837;CH471061;NM_013231;XM_005267489;XM_005267490;XM_006720095;XR_429303;XR_429304;XR_429305;XR_429306;XR_429307;XR_429308;XR_429309 AAF28460;AAI26250;AAI30291;AAI43937;AAQ88654;ADR83244;BAG51774;EAW81352;NP_037363;O43155;XP_005267546;XP_005267547;XP_006720158 Hs.533710;Hs.624735;Hs.744139 1650460;1659112;1717499;1857424;2109313;2114865;2130509;2150396;2178758 FLRT2__6737;RH122255;RH44492;RH47674;RH66730;RH67807;SGC34761;SHGC-53853;STS-AA034366 KIAA0405 OTTHUMP00000245926;OTTHUMP00000245927;fibronectin-like domain-containing leucine-rich transmembrane protein 2;leucine-rich repeat transmembrane protein FLRT2 APPROVED protein-coding HGNC:3761 05312 604807 REVIEWED 1323621 FLNB filamin B, beta This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009] 3 3 3 p14.3 58008139 58172548 + 57994127 58157982 + 58008400 58172255 + 1601168;1580863;1601170;6480464;6907045;7240710;7364738;8554872;8699517 14991055;15994868;23719537 10449914;10644691;10676904;11153914;11252955;11336782;11739414;11807098;12006559;12077712;12119179;12393796;12496242;12525170;14702039;15054484;15231748;15592455;16009940;16076904;16106752;16752402;16801345;16964243;17474147;18029348;18157088;18257094;18487259;18624398;18799729;18809679;18815275;19039035;19052145;19054571;19056867;19270716;19300455;19366992;19453265;19505475;19615732;19727905;19738201;19805454;20301736;20379614;20467438;20634891;20706999;21139048;21182205;21319273;21853274;21890473;21906983;22145905;22174152;22190451;22505724;22586326;22623428;22721673;22802962;22863883;22939629;22990118;23000965;23036857;23182705;23401428;23401860;23402259;23568457;23648065;23862649;24176111;24457600;24583282;24816145;25015289;7485161;8327473;9437013;9651345;9694715 2317 E7EN95;H7C5L4;O75369;Q8WXT3 AB191258;AB209889;AB371580;AB371581;AB371582;ABBA01024395;ABBA01024396;ABBA01024397;AC114399;AC137936;AF042166;AF043045;AF191633;AF238609;AF353666;AF353667;AK022486;AL137574;AL699183;AL833551;AMYH02006884;AMYH02006885;AMYH02006886;BX641085;CH471055;CR749793;M62994;NG_012801;NM_001164317;NM_001164318;NM_001164319;NM_001457;XM_005264977;XM_005264978;XM_005264981;XM_005264982;XM_006713067 AAA35505;AAC33845;AAC39842;AAF72339;AAF97046;AAI56185;AAL68439;AAL68440;AAL68441;AAL68442;AAL68443;BAD52434;BAD93126;BAG48309;BAG48310;BAG48311;CAB70818;CAE46040;CAH18654;EAW65352;EAW65353;EAW65354;EAW65355;EAW65356;EAW65357;NP_001157789;NP_001157790;NP_001157791;NP_001448;O75369;XP_005265034;XP_005265035;XP_005265038;XP_005265039;XP_006713130 Hs.476448 1336120;1645425;1648095;1656491;1671935;1677014;1776775;2108101;2125497;2130494;2174596;2184884;5015105;7183762;7186424 D3S1581;D3S1600;D3S3923;D3S4069;FLNB_8352;G09702;RH16494;RH45533;RH78421;SHGC-153438;SHGC-34580;SHGC-77042;STS-H01996;STS-M62994 ABP-278;ABP-280;AOI;DKFZp686A1668;DKFZp686O033;FH1;FLN-B;FLN1L;LRS1;SCT;TABP;TAP ABP-280 homolog;Larsen syndrome 1 (autosomal dominant);OTTHUMP00000214207;OTTHUMP00000214208;OTTHUMP00000214209;OTTHUMP00000214211;OTTHUMP00000214213;actin binding protein 278;actin-binding-like protein;beta-filamin;filamin 1 (actin-binding protein-280)-like;filamin homolog 1;filamin-3;filamin-B;thyroid autoantigen;truncated ABP;truncated actin-binding protein APPROVED protein-coding ENSG00000136068 HGNC:3755 04543 108720;108721;112310;150250;272460;603381 REVIEWED 1318791 FLNC filamin C, gamma This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q32-q35 123266997 123295842 + 128470436 128499328 + 128830382 128859274 + 1580863;6480464;6907045;7240710;7364738;8554872;8699517 23719537 10629222;10658210;10984498;11038172;11102480;11153914;11171996;11252955;11739414;11842093;12006559;12119179;12376540;12393796;12438262;12480088;12525170;12679033;12704190;14506720;14702039;15159586;15231748;15385448;15461588;15525470;15642266;15929027;16076904;16501887;16631741;17174070;17360532;17379241;17412757;17474147;17825253;17987659;18029348;18157088;18457437;18487259;19050726;19151983;19366992;19472918;19615732;19616115;19738201;19913121;20085233;20301672;20417099;20554076;20562859;20578970;20628086;20732627;20936779;21139048;21145461;21319273;21565611;21620354;21853274;21890473;21988832;22108332;22131542;22505724;22586326;22802962;22863883;22939629;22972877;23000965;23115302;23238331;23292007;23402259;23463506;23864608;24469451;24816145;7689010;8088838;8681137;9006895;9412467;9694715;9791010 2318 Q14315;Q59H94 AB208865;AB371585;ABBA01057652;ABBA01057653;ABBA01057654;AC025594;AF089841;AF146692;AF184126;AF252549;AJ012737;AJ132990;AK001048;AMYH02016719;CH236950;CH471070;F30928;NG_011807;NM_001127487;NM_001458;X70083;X70084;XM_006715910 AAD12245;AAF67190;AAF68195;AAF80245;BAD92102;BAG48314;BAG50853;CAA49688;CAA49689;CAB46442;CAB51535;EAW83689;EAW83690;EAW83691;NP_001120959;NP_001449;Q14315;XP_006715973 Hs.58414 1682335 RH99004 ABP-280;ABP280A;ABPA;ABPL;FLJ10186;FLN-C;FLN2;MFM5;MPD4 ABP-280-like protein;ABP-L, gamma filamin;OTTHUMP00000025245;OTTHUMP00000212838;actin binding protein 280;actin-binding-like protein;filamin 2;filamin-2;filamin-C APPROVED protein-coding ENSG00000128591 HGNC:3756 00018 102565;609524;614065 REVIEWED 7176883 FLT1P1 fms-related tyrosine kinase 1 pseudogene 1 3 3 3 p21.31 46121181 46122614 - 46183849 46185282 - 46142357 46143790 - 11896456;20190752;24312300 391533 ABBA01024719;AC104439;AMYH02006668;NG_005897 pseudo HGNC:44609 INFERRED 1350548 FLRT3 fibronectin leucine rich transmembrane protein 3 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010] 20 20 20 p11 14379950 14393623 - 14304639 14318313 - 14323993 14337667 - 1580863;6480464;8699517;7240710;8554872 10644439;10819331;11780052;12477932;12975309;14702039;15489334;16303743;16344560;16440004;18593871;22405201 23767 Q8NC95;Q9NZU0 AB040902;ABBA01053980;AF169677;AK027297;AK027670;AK027694;AK074883;AK074909;AL132826;AL529481;AMYH02036731;AY358319;BC020870;CD654700;CH471133;CQ782875;DA502792;NG_033913;NM_013281;NM_198391;XM_005260682 AAF28461;AAH20870;AAQ88685;ABM82953;ABM86145;BAA95993;BAB55023;BAB55282;BAB55303;BAC11265;BAC11284;CAF86103;EAX10300;EAX10301;NP_037413;NP_938205;Q9NZU0;XP_005260739 Hs.41296 1724073;2110409;2137885;2187315 FLRT3__6738;RH118777;STS-H89893;Z94632 HH21 OTTHUMP00000030309;OTTHUMP00000030310;fibronectin-like domain-containing leucine-rich transmembrane protein 3;leucine-rich repeat transmembrane protein FLRT3 APPROVED protein-coding ENSG00000125848 HGNC:3762 05313 604808;615271 REVIEWED 735666 FLOT2 flotillin 2 Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. [provided by RefSeq, Jul 2008] 17 17 17 q11-q12 24065775 24084131 - 27206356 27224715 - 28879339 28897697 - 1580863;6480464;6907045 10212252;10462713;11159550;11598189;11999340;12107410;12202484;12477932;12493773;14667819;15489334;15492257;15569306;16521037;17013097;17110338;17113085;17307333;17342744;17600709;1769667;17854803;18237819;18296650;18337418;19056867;19318123;19404397;19542222;19605558;19738201;19946888;20027317;20360068;20515742;20682791;21119006;21139048;21187433;21674799;21701559;21832049;21890473;21906983;21963094;21987572;21988832;22081607;22261722;22438585;22669515;22797925;22869152;22939629;23000965;23012365;23064789;23146906;23314748;23658725;23825023;23945257;23983584;24046456;24391950;24457600;24747692;8051082;8125298 2319 E7EMK3;J3QKZ4;J3QLD9;K7EJ47;K7EKW9;Q14254;Q6FG43;Q9BTI6 ABBA01015037;ABBA01015038;AC024267;AK225491;AMYH02033231;AMYH02033232;AMYH02033233;BC003683;BC017292;BT019477;BT019478;CA390100;CH471159;CR541784;CR542265;M60922;NM_004475;XM_005257950;XM_005257952;XM_005257953 AAA65729;AAH03683;AAH17292;AAV38284;AAV38285;ABM83617;ABM86861;CAG46583;CAG47061;EAW51152;EAW51154;EAW51155;EAW51158;EAW51161;EAW51162;NP_004466;Q14254;XP_005258007;XP_005258009;XP_005258010 Hs.514038 1677760;1681809;1685149;1687383;1731973;2110407 D17S963;FLOT2__6735;RH12224;RH17712;RH17814;RH78255 ECS-1;ECS1;ESA;ESA1;M17S1 Flotillin 2 (epidermal surface antigen 1);OTTHUMP00000163513;OTTHUMP00000163514;epidermal surface antigen;flotillin-2;membrane component chromosome 17 surface marker 1;membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1) APPROVED protein-coding ENSG00000132589 HGNC:3758 00580 131560 REVIEWED 736684 FLOT1 flotillin 1 Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. FLOT1 encodes a caveolae-associated, integral membrane protein. The function of flotillin 1 has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 32293643 32308593 - 30695506 30710687 - 30727734 30742910 - 1580863;6480464;6907045 10212252;10462713;10931946;11001060;11042152;11159550;11167132;11481476;11598189;12202484;12477932;14708344;15120622;15128873;15469992;15489334;15545008;15569306;15713644;15862967;15939299;16169070;16196087;16198165;16341206;16480949;17081065;17113085;17307333;17548467;17587329;17600709;17897319;18000879;18029348;18164080;18660489;18850735;19056867;19121286;19258392;19318123;19348413;19404397;19738201;19815536;19851445;19946888;20027317;20360068;20430883;20682791;20810659;20848476;20880565;21110914;21139048;21187433;21399631;21447726;21674799;21890473;21963094;21988832;22190034;22215737;22232557;22235335;22337587;22669515;22797925;22869152;22936677;22939629;23000965;23012365;23064789;23581411;23602568;23625312;23627023;23861967;24042857;24046456;24277378;24304721;24330780;24457600;24747692;24830726;8125298;9153235 10211 A2AB09;A2AB10;A2AB11;A2AB12;A2AB13;A2ABJ5;O75955;Q5ST80 AB088101;AB103607;AB202099;ABBA01038054;ABBA01038055;ABBA01038056;AF085357;AF089750;AF117234;AK000816;AK222530;AK301291;AL662797;AL662848;AL845353;AMYH02013437;BA000025;BC001146;BC128154;BT007077;BX248307;BX927283;CH471081;CR456946;CR759873;CR788240;CR936878;CT009501;NM_005803;XM_005248780;XM_005248781;XM_005272759;XM_005272760;XM_005274909;XM_005274910;XM_005275335;XM_005275336;XM_005275502;XM_005275503;XM_006714947;XM_006725465;XM_006725672;XM_006725971;XM_006726072 AAC35387;AAD40192;AAF17215;AAH01146;AAI28155;AAP35740;ABM84741;ABM92256;BAB63320;BAC54934;BAD96250;BAE78620;BAF31269;BAG62849;CAG33227;EAX03325;EAX03326;EAX03327;NP_005794;O75955;XP_005248837;XP_005248838;XP_005272816;XP_005272817;XP_005274966;XP_005274967;XP_005275392;XP_005275393;XP_005275559;XP_005275560;XP_006715010;XP_006725528;XP_006725735;XP_006726034;XP_006726135 Hs.179986 1670315;1687970;1725707;1792600;1792602;1792604;1795132;1796042;2117342;2145006;2153669;2168021;2171444;2220180 D6S2115;D6S2956;G62116;IER3_130;PMC154982P1;PMC154982P2;PMC154982P3;PMC98754P3;RH12614;RH46785;RH78215;RH91431;STS-AA034911;WI-18721 OTTHUMP00000029208;OTTHUMP00000164855;flotillin-1;integral membrane component of caveolae APPROVED protein-coding ENSG00000137312 HGNC:3757 06105 606998 REVIEWED 1606303 FLVCR1 feline leukemia virus subgroup C cellular receptor 1 This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011] 1 1 1 q32.3 186257592 186295983 + 213031597 213072705 + 212858255 212899363 + 6480464;7240710;8554872;8699517 10400745;10648427;10737800;11943475;12477932;14702039;15369674;15489334;15996880;16368877;16439531;17945326;18815190;19369334;19416867;20222826;20454576;20610401;21070897;21238504;21267618;21593354;21906983;21963094;21987572;22053931;22279524;22483575;22505724;23187127;24576667;25015289;9409377;9921862 28982 B2RB38;H7C3Z2;Q9Y5Y0 ABBA01048162;AC104333;AF118637;AK001419;AK090739;AK314481;AMYH02002651;BC048312;BE088852;BY800024;CH471100;DQ496107;GD138340;NG_028131;NM_014053;XR_247024;XR_426770;XR_426771;XR_426772 AAD45243;AAH48312;ABF47096;BAA91679;BAG37085;EAW93374;NP_054772;Q9Y5Y0 Hs.7055 1337738;1653325;1658438;1686088;1758845;1792846;2142545;2165789;5015861;5037552;7185216;7185938 A002T39;D10S16;D1S217;D8S2279;PMC16555P2;RH64654;SHGC-151048;SHGC-38147;SHGC-76320;SHGC-76322 AXPC1;FLJ33420;FLVCR;MFSD7B;PCA;PCARP;hFLVCR OTTHUMP00000035011;OTTHUMP00000035012;feline leukemia virus subgroup C receptor;feline leukemia virus subgroup C receptor-related protein 1 APPROVED protein-coding ENSG00000162769 HGNC:24682 16451 609033;609144 REVIEWED 1353824 FLT3LG fms-related tyrosine kinase 3 ligand Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011] 19 19 19 q13.3 46846847 46858811 + 49977455 49989491 + 49474201 49486234 + 1580863;6480464 10637491;10881197;11159533;11710537;11721383;11847009;11877288;11956621;11983110;12002675;12036900;12223523;12477932;12676789;12759428;12817014;12969963;14670916;14764540;15226184;15489334;15728521;15905588;15914030;16169070;16487027;17949888;18797870;18982072;19426596;20142363;20552015;20628624;20933441;21263155;21505426;21516120;22110249;22463758;23124877;7505204;7566977;7824267;8145851;8180375;9590652;9651358 2323 B7ZLY4;M0QXI0;M0QYM9;M0R2K0;M0R3A6;P49771 ABBA01032924;ABBA01032925;AC010619;AI792400;AK301136;AMYH02036317;BC006331;BC011914;BC028001;BC126293;BC136464;BC144129;CH471177;DB490139;NM_001204502;NM_001204503;NM_001278637;NM_001278638;NM_001459;U03858;U04806;U29874;XM_005258680;XM_005258681;XM_005258682;XM_005258683;XM_005258684;XM_005258685;XM_006723114;XM_006723115;XM_006723116;XM_006723117;XM_006723118 AAA17999;AAA19825;AAA90949;AAA90950;AAH06331;AAH11914;AAH28001;AAI26294;AAI36465;AAI44130;ADR83352;BAG62728;EAW52488;EAW52489;EAW52490;EAW52491;EAW52492;EAW52493;EAW52494;NP_001191431;NP_001191432;NP_001265566;NP_001265567;NP_001450;P49771;XP_005258737;XP_005258738;XP_005258739;XP_005258740;XP_005258741;XP_005258742;XP_006723177;XP_006723178;XP_006723179;XP_006723180;XP_006723181 Hs.428 5015861;5110924 D10S16;STS-U03858 FL;FLT3L SL cytokine;flt3 ligand APPROVED protein-coding ENSG00000090554 HGNC:3766 02477 600007 VALIDATED 1352163 FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2 This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010] 14 14 14 q24.3 56083035 56152616 + 76044940 76114512 + 75578597 75648169 + 6480464;7240710;8554872;8699517 10737800;12477932;12508121;14702039;14729055;15489334;16344560;16439531;20206334;20690116;20823265;20967262;55640 55640 G3V391;G3V458;G3V4G2;G3V5P5;G3V5Q8;G3V5Y3;Q9UPI3 ABBA01030697;AC007182;AF456126;AK000378;AK027804;AK297002;AMYH02029541;AY260572;AY260577;BC019087;BC026295;CH471061;CR739521;DA166212;NG_027694;NM_001195283;NM_017791 AAD51374;AAH19087;AAO15528;AAP86633;AAP86638;ADZ16022;BAA91126;BAB55381;BAH12471;EAW81235;NP_001182212;NP_060261;Q9UPI3 Hs.509966 1675082;1679970;2142312;2165137;5016478;5022200;5037552;5124607 A004T16;D8S2279;GDB:434012;L18426;RH75673;RH91415;SHGC-34049;STS-T79170 C14orf58;CCT;EPV;FLJ20371;FLVCRL14q;MFSD7C;PVHH OTTHUMP00000246171;OTTHUMP00000246172;OTTHUMP00000246174;OTTHUMP00000246594;calcium-chelate transporter;feline leukemia virus subgroup C cellular receptor 2;feline leukemia virus subgroup C receptor-related protein 2;feline virus subgoup C receptor 2 APPROVED protein-coding ENSG00000119686 HGNC:20105 12654 225790;610865 REVIEWED 1321714 FLT3 fms-related tyrosine kinase 3 This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. The receptor consists of an extracellular domain composed of five immunoglobulin-like domains, one transmembrane region, and a cytoplasmic kinase domain split into two parts by a kinase-insert domain. The receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jul 2008] 13 13 13 q12 9652471 9749817 - 28577411 28682904 - 28003274 28100592 - 1580863;1598955;2302210;2302211;2302209;2302208;6480464;6907045;7240710;8554872;8699517 10498246;10786663;11290608;14566827;14977818 10022833;10080542;10409713;10482988;10698507;11027663;11091200;11133746;11442493;11535508;11971190;11983110;12036858;12060771;12070009;12239146;12239147;12384447;12393674;12468433;12468438;12477932;12481903;12676789;12681969;12691136;12816873;12842996;12854887;12926083;12935959;12951584;12969963;14504097;14562119;14604974;14630076;14654525;14670924;14737077;14759363;14977832;14981546;14982881;15044257;15054042;15059064;15061200;15150124;15166029;15167911;15178581;15242879;15253381;15289019;15345593;15352981;15363457;15574429;15583855;15604885;15604894;15645287;15650056;15674343;15710585;15769897;15770067;15778081;15781338;15797998;15831474;15863200;15902284;15921740;15959528;15973451;15978940;15996732;16015387;16029447;16046528;16076867;16116483;16185475;16213360;16234090;16263569;16263793;16320249;16326981;16368883;16410383;16410449;16502586;16517725;16533526;16598313;16642044;16684964;16809615;16861351;16949153;16982329;16990784;16990788;17036374;17056111;17064989;17105820;17128418;17222369;17229632;17230226;17268528;17312001;17387224;17442779;17446348;17456725;17485549;17498302;17550846;17579862;17584026;17598835;17606455;17620055;17650443;17668209;17690703;17708786;17708787;17708788;17763464;17851551;17851558;17881645;17881646;17910045;17936561;17939400;17940205;17943971;17957027;17965322;17972951;17983653;18024405;18024407;18067018;18067020;18068628;18071308;18081718;18096476;18156731;18184863;18192111;18192505;18261272;18270328;18303245;18305215;18309032;18336585;18343790;18394702;18450602;18464120;18473998;18483393;18490735;18503825;18559874;18605083;18641025;18670883;18755984;18797870;18925699;18955790;18977345;19016763;19052976;19052993;19059939;19085113;19141860;19144660;19151774;19176010;19176014;19181379;19181784;19204327;19221039;19236740;19279329;19296110;19309322;19330068;19345670;19351817;19395028;19411632;19438505;19464057;19466291;19529981;19536888;19540337;19540590;19549778;19557552;19562748;19602710;19603346;19635202;19637342;19665070;19672946;19684517;19698218;19700852;19765320;19773259;19775300;19808698;19824900;19840437;19853583;19865112;19878996;19913121;19915372;19921191;19934300;19956635;19965647;19968062;19995225;20001230;20018615;20023256;20031210;20035824;20039765;2004790;20066533;20096459;20098747;20119833;20133893;20137111;20159992;20172040;20182906;20201926;20212254;20237506;20302766;20354824;20368469;20368538;20376086;20379614;20439648;20504356;20508617;20513120;20514303;20515557;20520634;20525753;20546020;20548095;20571062;20592250;20628086;20651067;20656931;20670134;20678218;20693296;20740398;20800603;20803351;20807885;20815269;20861915;20872983;20875128;20875872;20880116;20959405;20966504;20981678;21048955;21067377;21067588;21114537;21114781;21129033;21133602;21148331;21173125;21176335;21180092;21233836;21242187;21245599;21245757;21262971;21269566;21332708;21338238;21357706;21387358;21389326;21453545;21487043;21516120;21516736;21520003;21523727;21523728;21527514;21537333;21552520;21589872;21606167;21621842;21674859;21685470;21696826;21744003;21767516;21768087;21789382;21820407;21859732;21860418;21890473;21907407;21967978;22044003;22050655;22084166;22096027;22099191;22104247;22126574;22126602;22129478;22132874;22208491;22210879;22261446;22291086;22343664;22354205;22368270;22374696;22378655;22421058;22422053;22438257;22454318;22458420;22481022;22487825;22494415;22514634;22532519;22562027;22591177;22605576;22674490;22684224;22705992;22721497;22733614;22736495;22751451;22807997;22858906;22858909;22875611;22911473;22914610;22952242;22972921;22996295;23009217;23017497;23040356;23082484;23086275;23115106;23124877;23127761;23135354;23154527;23167317;23167384;23190472;23238897;23246379;23276395;23300935;23321254;23335073;23340802;23359050;23377000;23377436;23430109;23431389;23479570;23480665;23508117;23511494;23540998;23548639;23567961;23584564;23590662;23603912;23613521;23631653;23647058;23650535;23666693;23722894;23740774;23763915;23774633;23783394;23793916;23840454;23846442;23878140;23906301;23907410;23929599;23982978;24005813;24040307;24097631;24175822;24192815;24240202;24268349;24282218;24288427;24323990;24390456;24574459;24582753;24737502;24779074;24855211;7505204;7507245;7692230;7789184;8394751;8946930;9614102;9651358;9918857 2322 E7ER61;P36888 ABBA01035730;ABBA01035731;ABBA01035732;ABBA01035733;ABBA01035734;ABBA01035735;ABBA01035736;AL356915;AL445262;AL591024;AMYH02027763;AW057705;BC036028;BC126350;BC144039;BC144040;BI461248;CH471075;L36162;NG_007066;NM_004119;U02687;U82002;Z26652 AAA18947;AAA35487;AAB52916;AAI26351;AAI44040;AAI44041;CAA81393;EAX08424;EAX08425;NP_004110;P36888 Hs.507590 1737419;1760547;1781544;1792132;2112996;2115450;2134803 D13S1380;D13S1716;D13S802;D13S993;PMC137521P1;SHGC-143954;SHGC-143958 CD135;FLK-2;FLK2;FLT-3;STK-1;STK1 CD135 antigen;FL cytokine receptor;FLT3 receptor tyrosine kinase;OTTHUMP00000018181;OTTHUMP00000214829;fetal liver kinase 2;fetal liver kinase-2;fms-like tyrosine kinase 3;growth factor receptor tyrosine kinase type III;receptor-type tyrosine-protein kinase FLT3;stem cell tyrosine kinase 1;tyrosine-protein kinase receptor FLT3 APPROVED protein-coding ENSG00000122025 HGNC:3765 00635 136351;601626 REVIEWED 4144951 FLVCR1-AS1 FLVCR1 antisense RNA 1 (head to head) INTERACTS WITH aflatoxin B1 1 1 1 q32.3 186255942 186257475 - 213029946 213031480 - 212856604 212858138 - 6480464 11943475 642946 Q8TAF5 ABBA01048162;AC104333;AMYH02002651;AY030238;AY030239;NG_028131;NR_027285;NR_027286 AAK51141;AAK51142;Q8TAF5 Hs.552649 1658438 SHGC-38147 LQK1;NCRNA00292 APPROVED ncrna ENSG00000198468 HGNC:39077 610864 VALIDATED 1353802 FLYWCH1L FLYWCH-type zinc finger 1-like 497263 HGNC:31915 1346259 FLYWCH1 FLYWCH-type zinc finger 1 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH aflatoxin B1; cobalt dichloride; ethyl methanesulfonate 16 16 16 p13.3 3167373 3206655 + 2961943 3001209 + 2911942 2951208 + 6480464 10997877;11230166;12477932;14702039;15094203;15146197;16169070;18029348;19322201;21139048;24250222;8889548 84256 I3L0R3;I3L188;I3L1A7;I3L231;I3L287;I3L4V9;J3KNW1;Q4VC44 AB046772;ABBA01026721;ABBA01026722;ABBA01026723;AC004034;AC004234;AC004235;AK026885;AK055777;AK057022;AK092434;AK127235;AL136585;AMYH02031276;AMYH02031277;AMYH02031278;AMYH02031279;BC001973;BC018712;BC028572;BU730169;CH471112;CN359886;NM_020912;NM_032296;XM_005255628;XM_006720959;XM_006720960;XM_006720961;XM_006720962 AAH01973;AAH18712;AAH28572;BAB13378;BAC86896;BAG51572;BAG51844;BAG52552;CAB66520;EAW85450;EAW85451;EAW85452;EAW85453;EAW85454;NP_065963;NP_115672;Q4VC44;XP_005255685;XP_006721022;XP_006721023;XP_006721024;XP_006721025 Hs.655321 1672115;1683984;5015861;5015867;5020948;5022200;5022588;5024272;7185938 D10S16;D2S1254;D5S1597E;G35510;GDB:312714;L18426;RH91964;SHGC-60766 FLYWCH-type zinc finger-containing protein 1 protein-coding ENSG00000059122 HGNC:25404 13222 VALIDATED 2923075 FLYWCH1P1 FLYWCH-type zinc finger 1 pseudogene 1 3 3 3 q26.33 178978112 178979960 - 180545730 180547706 - 180827942 180829918 - 100130898 ABBA01058513;AC108734;AMYH02008240;NG_022230 pseudo HGNC:38033 INFERRED 1602659 FLYWCH2 FLYWCH family member 2 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH pirinixic acid; potassium dichromate; 17alpha-ethynylestradiol (ortholog) 16 16 16 p13.3 3138592 3154795 + 2932924 2949383 + 2882925 2899382 + 6480464 12477932;19322201;21139048;24250222;24816145;25036637 114984 I3L1Y9;I3L4I0;Q96CP2 ABBA01026719;ABBA01026720;AC004234;AL542248;AMYH02031276;BC014089;BG120460;BI825861;CA413438;CH471112;DB455461;NM_001142499;NM_001142500;NM_138439;XM_005255078 AAH14089;ADR82776;EAW85455;NP_001135971;NP_001135972;NP_612448;Q96CP2;XP_005255135 Hs.534525 OTTHUMP00000159208;OTTHUMP00000159209;hypothetical protein bc014089 protein-coding ENSG00000162076 HGNC:25178 14007 VALIDATED 737202 FLT1 fms-related tyrosine kinase 1 This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009] 13 13 13 q12 9949266 10144048 - 28874483 29069265 - 28300346 28495128 - 1582493;1580863;1582494;1582498;704404;2289945;1626621;2298727;2313728;2313731;2289084;2289965;2289936;2289963;2289966;2289937;2289948;2289960;2289961;2289962;2289964;2301252;2313719;2313721;2313725;2301251;2301256;2301253;2301254;2313724;2301250;2301255;4891938;5684420;6480464;5684426;5684427;6484113;6907045;6907361;8549773;8552359;7421586;8547977;8552360;8551825;8551824;8554872 10475375;10604730;10831352;10893635;11220380;11448916;11448924;11839635;11846206;11857378;11929819;12062723;12485477;12560388;12824880;12875575;12910290;14517422;15350351;15472115;15610240;15681497;15785231;15823121;15841074;16139132;16633338;16741021;16816123;17143550;17306351;17823371;18566400;20631454;20980160;21219633;21528367;21730877;21731737;22170007;22426483;7876550 10194760;10409677;10471394;10543948;10579917;10585578;10642585;10737800;10738243;10748050;10749680;10842181;10865839;11056124;11134362;11157498;11278319;11289156;11312102;11513746;11693202;11741094;11751905;11806246;11807987;11811792;11824379;11852061;11862609;11877075;11908876;11953105;11986954;12023386;12091880;12107410;12133473;12366396;12406876;12426207;12439912;12477932;12509223;12543719;12607599;12651930;12670505;12727995;12796773;12810700;12865438;12920240;12949011;1312256;14512169;14585871;14600159;14602804;14607815;14633857;14654077;14674128;14684734;14687619;14702039;14760936;14967383;14996703;15135240;15160911;15166498;15183893;15272021;15284201;15329326;15489334;15492987;15503825;15589171;15610528;15649874;15665766;15705187;15711751;15735759;15817508;15817662;15886253;15952180;16005848;16021053;16021077;16095053;16109918;16169405;16248895;16249383;16251410;16286478;16341007;16344560;16375118;16432214;16488907;16496302;16530326;16616080;16671089;16685275;16786116;16835828;16959214;16968555;17013089;17051153;17071533;17088944;17109193;17118734;17189520;17197602;17210583;17242190;17259514;17287067;17336974;17379761;17409768;17486129;17507435;17550303;17562275;17570036;17599955;17615362;17633783;17661207;17696935;17722983;17891484;17956952;17956955;17964871;17975225;17982238;18006819;18029348;18037256;18053608;18079407;18097592;18175241;18175242;18264952;18284215;18287964;18295763;18304425;18315732;18317954;18330824;18332870;18343373;18356031;18374411;18379030;18421240;18443354;18451223;18515749;18566591;18593464;18598002;18604718;18609713;18625704;18627789;18631405;18636124;18639520;18656381;18665074;18691902;18694994;18771978;18779584;18789115;18829111;18931684;18936439;18974372;18975312;18992679;18996083;19003637;19020728;19039203;19064815;19066962;19068081;19082506;19103251;19135290;19147226;19162007;19165674;19180491;19200976;19261502;19269632;19287991;19302266;19324337;19330612;19336504;19350449;19351908;19352513;19385972;19409555;19412349;19452502;19453261;19501525;19528353;19564559;19608702;19631980;19633424;19658040;19701853;19707156;19716155;19718025;19720604;19734545;19741061;19811263;19816083;19816604;19834490;19850021;19860625;19883397;19895348;19913121;19919522;19936766;19948974;19953087;20007583;20015944;20026801;20030917;20103598;20103604;20124108;20149032;20158393;20164029;20169144;20179233;20199197;20222950;20223440;20350647;20395257;20422012;20428821;20452482;20453000;20484670;20488538;20491879;20501651;20512933;20515481;20571438;20602615;20615131;20628086;20635108;20661303;20666936;20673868;20674013;20695190;20706192;20805333;20828367;20842453;20854187;20873967;20948996;21050477;21062661;21097568;21115742;21139021;21168388;21209384;21212275;21212411;21219538;21286681;21300889;21334711;21336717;21343372;21345006;21349629;21371321;21376261;21381877;21382012;21389678;21389833;21415391;21447646;21448460;21487788;21496870;21518965;21524919;21532145;21534854;21544626;21555675;21568945;2158038;21585639;21612582;21642504;21652578;21709213;21715541;21751212;21827221;21867402;21939291;21939755;21962138;21978169;22000672;22003089;22016416;22034638;22082645;22095559;22147121;22153185;22173504;22177802;22178822;22203927;22203933;22230112;22246525;22264588;22294840;22315135;22348624;22357551;22385323;22386962;22427682;22438952;22484977;22487430;22528855;22541785;22555639;22558992;22581286;22609636;22690749;22718299;22729710;22734007;22819145;22828632;22836649;22872542;22902831;22955733;22962618;22988942;23030842;23038639;23059888;23113309;23140147;23172303;23190621;23195033;23239021;23250775;23339636;23364394;23400753;23415672;23420665;23421954;23437230;23475388;23503608;23580180;23602568;23612628;23620752;23624620;23645683;23645757;23701307;23704979;23711375;23716179;23725155;23737988;23748230;23749886;23774235;23794399;23799140;23799978;23801279;23806447;23831629;23902770;23905610;23912175;23939615;23957293;23966056;24035323;24048373;24098721;24127643;24166749;24217170;24260556;24303885;24340742;24341227;24398900;24400721;24423299;24440566;24482236;24708917;24713547;24763231;24812550;3040650;3115921;7657594;7707437;8111406;8126087;8248162;8605350;8621427;9256359;9269752;9299537;9393862;9398617;9452434;9472937;9600074;9722576;9751730;9931493;9973224 2321 L7RSL3;P17948 AB209050;ABBA01035724;ABBA01035725;ABBA01035726;AF063657;AK092472;AK292936;AK300392;AK309901;AL138712;AL139005;AMYH02027768;AMYH02027769;BC029849;BC039007;BE180461;BU151621;BX504049;CA396081;CH471075;CQ871317;CS172284;D00133;DA844548;DA851664;DQ836394;DQ836395;DQ836396;EF491868;EF491869;EF491870;EU332841;EU360600;EU368830;EU443152;EU826561;EU826562;HD077716;JF509744;JF509745;JX512442;NG_012003;NM_001159920;NM_001160030;NM_001160031;NM_002019;S77812;S77814;U01134 AAB34001;AAB34002;AAC16449;AAC50060;AAH39007;ABI53803;ABI53804;ABI53805;ABS32268;ABS32269;ABS32270;ABY87530;ACA21474;ACA62948;ACB05747;ACF47597;ACF47598;AFC77954;AFC77955;AGC09589;BAA00080;BAD92287;BAF85625;BAG62125;CAH56859;CAJ33638;CBW44131;EAX08431;EAX08432;NP_001153392;NP_001153502;NP_001153503;NP_002010;P17948 Hs.594454 1339199;1643622;1647692;1675559;1701052;1701642;1714321;1716017;1722915;1723367;1737417;1738403;1741261;1742071;1742971;1797224;1797536;1856835;2111560;2111592;2112994;2118919;2120865;2123917;2128694;2129679;2139296;2163698;2186277 A006Q11;A006V36;D13S1250;D13S1448;D13S1520;D13S1539;D13S1715;D13S1819;D13S666E;D13S992;FLT1-112;FLT1_2504;Flt1;G60554;GDB:180246;GDB:190836;GDB:218013;RH104153;RH104465;RH118501;RH119940;RH122752;RH17924;RH44391;RH47290;RH48311;RH65559;RH70263;WI-7567 FLT;FLT-1;VEGFR-1;VEGFR1 OTTHUMP00000018183;fms-like tyrosine kinase 1;fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor);tyrosine-protein kinase FRT;tyrosine-protein kinase receptor FLT;vascular endothelial growth factor receptor 1;vascular permeability factor receptor APPROVED protein-coding ENSG00000102755 HGNC:3763 01297 165070 REVIEWED 1606398 FMN1 formin 1 ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN actin nucleation (inferred); PARTICIPATES IN E-cadherin signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN actin filament (inferred); cell junction (inferred); cytoplasm (inferred); INTERACTS WITH (+)-catechin; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 15 15 15 q13.3 9859583 10161753 - 33057745 33486934 - 32765544 33194733 - 6480464;6484113;8554872 10199968;10631086;11604498;12477932;14647292;15202026;1673046;19096130;19605360;20023658;20200978;20379614;20540360;20610440;21975549;23377640;8889548 342184 H0YL93;H0YLM7;H0YM30;H0YMP0;Q68DA7 ABBA01038560;ABBA01038561;AC018515;AC019278;AC055874;AC090098;AC090877;AC090982;AC243948;AI040235;AI417633;AL833157;AMYH02030129;AMYH02030130;AMYH02030131;BC029107;BC103692;BC107593;BM663620;CR749487;CR749577;HY009284;M38684;M38685;NM_001103184;NM_001277313;NM_001277314 AAI03693;AAI07594;AAI72380;CAH18313;NP_001096654;NP_001264242;NP_001264243;Q68DA7 Hs.657649 1334823;1339016;1659426;1680379;1700304;1715925;1720819;1724971;1750729;1759649;1788842;2120851;2136286;2168119;2185666;5014051;5021872;5022651;5037552 D11S2921;D15S1010;D15S231;D8S2278;D8S2279;G34050;G59385;G67631;GDB:315129;RH103772;RH118773;RH122697;RH39529;RH69350;RH77826;SHGC-112125;SHGC-150907;STS-AA019270;sY3084 DKFZp686C2281;DKFZp686G2387;FLJ45135;FMN;LD;MGC125288;MGC125289 formin (limb deformity);formin-1;limb deformity protein homolog protein-coding ENSG00000248905 HGNC:3768 07031 136535 VALIDATED 1354471 FLNA filamin A, alpha The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] X X X q28 153737962 153764068 - 153576900 153603006 - 154348532 154374638 - 1598953;1598954;1580863;6480464;6484113;6907045;7240710;7207227;7364738;8554872;8699517 12239094;12612583;23719537;9883725 10051605;10617615;10637311;10692483;11038172;11102480;11146652;11153914;11163396;11252955;11278410;11290523;11320256;11336782;11390379;11390380;11532987;11602572;11700320;11739414;11781567;11807098;11909861;11911837;11914408;11943148;12006559;12055638;12106908;12119179;12169691;12181426;12198493;12324467;12393796;12410386;12477932;12531889;12589795;12679033;12682292;12704190;12734206;12750292;12753905;12761501;12791664;12923176;14573758;14630798;14660646;14702039;14718723;14988809;15024089;15128042;15194946;15225631;15231747;15231748;15249610;15302935;15324660;15342556;15459826;15592455;15654694;15657061;15668422;15684392;15687500;15837785;15862967;15940695;15994863;16009940;16030015;16076904;16106752;16248985;16263121;16291724;16299064;16335966;16355270;16442073;16482509;16565220;16596676;16611986;16729043;16835913;16849481;16862148;16902413;16944923;16949617;16964243;17060905;17081983;17190868;17215244;17235394;1733165;17357080;17389601;17408621;17420725;17431908;17474147;17536008;17572668;17620599;17690686;17897634;17984062;18029348;18056414;18157088;18201775;18303054;18322202;1833070;18404377;18427995;18487259;18548008;18556573;18598695;18644866;18781797;18799729;18829455;19002047;19018795;19056867;19137608;19144823;19167051;19177143;19213840;19292868;19293932;19366992;19458194;19471022;19514078;19594548;19596686;19615732;19690385;19699211;19738201;19759182;19759913;19773341;19776392;19805454;19808958;19913121;19917821;19923718;19946888;20006946;20156194;20171211;20186808;20301392;20301567;20305393;20309963;20351098;20351101;20468064;20473907;20498229;20554076;20562859;20585650;20598277;20628086;20650901;20730588;20736409;20797700;20808917;208386;20844545;20847418;20936779;20937704;21036706;21080425;21081666;21095189;21139048;21145461;21150319;21156842;21169733;21182205;21252943;21319273;21325883;21359179;21412975;21524097;21565611;21566085;21660952;21693764;21697133;21705339;21706016;21737450;21750192;21773876;2177445;21807941;21815255;21821884;21890473;21906983;21914078;21926999;21960593;21963094;21987572;22004035;22053931;22076441;22174152;22194892;22238415;22307607;22334688;22366253;22412018;2248958;22505724;22586326;22623428;22676060;22740120;22771033;22802962;22863883;22870205;22939629;22990118;23000965;23007402;23032111;23037936;23041423;23077236;23117662;23125841;23161538;23166591;23184937;23340249;23398456;23402259;23434281;23463506;23500468;23636454;23798571;23862649;23873601;2391361;24052262;24089360;24120284;24200678;24218340;24241900;24332808;24390612;24403084;24469451;24583282;24654937;24657165;24706888;24816145;24828612;25027693;3138234;3658675;4044584;6457647;7689010;8088819;8290091;8406501;8609175;8674032;8733135;8871564;9006895;9412467;9437013;9490735;9722563 2316 E9PHF0;F8WE98;H0Y5C6;H0Y5F3;H7C2E7;P21333;Q5HY54;Q60FE5;Q6NXF2 AB191259;AB191260;AB371574;AB371575;AB371576;AB371577;AB371578;AB371579;AB593010;ABBA01045291;ABBA01045292;AC245140;AK074048;AK090427;AK125630;AK300165;AK304255;AL050396;AL157419;BC014654;BC028089;BC041179;BC067111;BC109289;BP235228;BX664723;BX936346;CH471172;GU727643;JA780914;JA780916;L44140;NG_011506;NM_001110556;NM_001456;X53416;X70082;X70085 AAA92644;AAH14654;AAH41179;AAH67111;AAI09290;ADU87644;BAB84874;BAC03408;BAD52435;BAD52436;BAG48303;BAG48304;BAG48305;BAG48306;BAG48307;BAG48308;BAG61947;BAG65121;BAJ83965;CAA37495;CAA49687;CAA49690;CCH22601;CCH22602;EAW72744;EAW72745;EAW72746;EAW72747;EAW72748;NP_001104026;NP_001447;P21333 Hs.195464 1702374;1731971;1798904;1799210;1799802;1800852;1801494;1801538;1801572;1801704;1801864;1801964;1802490;1802854;1802908;1802910;1803004;1803006;1803058;1803262;1803454;1803822;1804558;1804560;1805710;1805936;1807216;1809240;1812088;1823808;2036482;2036484;2036486;2036488;2036490;2036492;2036494;2036496;2036498;2036500;2036502;2036504;2036506;2036508;2036510;2036512;2036514;2036516;2036518;2036520;2036522;2036524;2036526;2036528;2036530;2036532;2036534;2036536;2036538;2036540;2036542;2036544;2036546;2036548;2036550;2036552;2036554;2036556;2036558;2036560;2036562;2036564;2036566;2036568;2036570;2036572;2036574;2036576;2036578;2036580;2036582;2036584;2036586;2036588;2036590;2036592;2036594;2036596;2036598;2036600;2036602;2036604;2036606;2036608;2036610;2036612;2036614;2036616;2036618;2036620;2036622;2036624;2036626;2036628;2036630;2036632;2036634;2036636;2036638;2036640;2036642;2036644;2036646;2036648;2036650;2036652;2036654;2036656;2036658;2036660;2036662;2036664;2036666;2036668;2036670;2036672;2036674;2036676;2036678;2036680;2036682;2036684;2036686;2036688;2036690;2036692;2036694;2036696;2036698;2036700;2036702;2036704;2036706;2036708;2036710;2036712;2036714;2036716;2036718;2036720;2036722;2036724;2036726;2102452;2102454;2102456;2102458;2102460;2102462;2102464;2102466;2102468;2102470;2102472;2102474;2102476;2102478;2102480;2102482;2189459 DXS1262;ECD00293;ECD00453;ECD00755;ECD01291;ECD01622;ECD01647;ECD01664;ECD01732;ECD01813;ECD01863;ECD02131;ECD02315;ECD02343;ECD02344;ECD02393;ECD02394;ECD02420;ECD02527;ECD02624;ECD02821;ECD03208;ECD03209;ECD03805;ECD03921;ECD04574;ECD05610;ECD07049;ECD12996;GDB:452893;MARC_6567-6568:992007312:1;REN89250;REN89251;REN89252;REN89253;REN89254;REN89255;REN89256;REN89257;REN89258;REN89259;REN89260;REN89261;REN89262;REN89263;REN89264;REN89265;REN89266;REN89267;REN89268;REN89269;REN89270;REN89271;REN89272;REN89273;REN89274;REN89275;REN89276;REN89277;REN89278;REN89279;REN89280;REN89281;REN89282;REN89283;REN89284;REN89285;REN89286;REN89287;REN89288;REN89289;REN89290;REN89291;REN89292;REN89293;REN89294;REN89295;REN89296;REN89297;REN89298;REN89299;REN89300;REN89301;REN89302;REN89303;REN89304;REN89305;REN89306;REN89307;REN89308;REN89309;REN89310;REN89311;REN89312;REN89313;REN89314;REN89315;REN89316;REN89317;REN89318;REN89319;REN89320;REN89321;REN89322;REN89323;REN89324;REN89325;REN89326;REN89327;REN89328;REN89329;REN89330;REN89331;REN89332;REN89333;REN89334;REN89335;REN89336;REN89337;REN89338;REN89339;REN89340;REN89341;REN89342;REN89343;REN89344;REN89345;REN89346;REN89347;REN89348;REN89349;REN89350;REN89351;REN89352;REN89353;REN89354;REN89355;REN89356;REN89357;REN89358;REN89359;REN89360;REN89361;REN89362;REN89363;REN89364;REN89365;REN89366;REN89367;REN89368;REN89369;REN89370;REN89371;REN89372;stSG603978;stSG603979;stSG603980;stSG603981;stSG603982;stSG603983;stSG603984;stSG603985;stSG603986;stSG603987;stSG603988;stSG603989;stSG603991;stSG603992;stSG603993;stSG603997 ABP-280;ABPX;CSBS;CVD1;DKFZp434P031;FLJ43642;FLN;FLN-A;FLN1;FMD;MNS;NHBP;OPD;OPD1;OPD2;XLVD;XMVD OTTHUMP00000024320;OTTHUMP00000024321;OTTHUMP00000064890;actin binding protein 280;alpha-filamin;endothelial actin-binding protein;filamin 1;filamin-1;filamin-A;non-muscle filamin APPROVED protein-coding ENSG00000196924 HGNC:3754 02060 300017;300048;300049;300244;300321;300537;304120;305620;309350;311300;314400 REVIEWED 1345437 FMN2 formin 2 Formin homology (FH) domain proteins (see FMN1; MIM 136535) play a role in cytoskeletal organization and/or establishment of cell polarity.[supplied by OMIM, Apr 2010] 1 1 1 q43 213510402 213893529 + 240255185 240638491 + 240091885 240475191 + 1580863;6480464;8554872 10781961;12447394;12477932;15289902;15866570;16710414;17554300;19336575;19605360;19626040;19913121;19955471;20379614;20628086;20734064;21705804;23375502;23400010;23437003;23535033;23839046;24223803;24489884 56776 B0QZA8;B0QZD5;Q2M1H5;Q9HBL1;Q9NZ56 AB209153;ABBA01033229;ABBA01033230;ABBA01033231;ABBA01033232;ABBA01033233;ABBA01033234;AF218941;AF218942;AF225426;AK297716;AK297755;AK298141;AL359918;AL513342;AL590490;AL646016;AMYH02003017;AMYH02003018;AMYH02003019;AMYH02003020;AMYH02003021;AMYH02003022;BC014364;BC112335;BC112361;CH471098;DB476003;DN990332;NM_020066;XM_005273200 AAF72884;AAF72885;AAG09728;AAH14364;AAI12336;AAI12362;BAD92390;BAG60071;BAG60417;BAH12659;EAW70082;NP_064450;Q9NZ56;XP_005273257 Hs.24889 1676400;1692418;1714513;1725403;1725711;1727481;1754147;1756219;1761851;1764501;1777222;2126932;2155104 AL009721;AL033858;D1S2600;G62053;G62998;RH119019;RH119769;RH65279;SHGC-132176;SHGC-143089;SHGC-145799;SHGC-148105;T03659 OTTHUMP00000037814;formin 2-like;formin-2 APPROVED protein-coding ENSG00000155816 HGNC:14074 10449 606373 VALIDATED 2303691 FMO10P flavin containing monooxygenase 10, pseudogene 1 1 1 q24.1 139723660 139773864 + 166618387 166668597 + 166649150 166699360 + 15077013 100128181 ABBA01047258;ABBA01047259;ABBA01047260;AL356005;AL611962;AMYH02002077;NG_009811 1754903;1755391;2165959 AL009639;SHGC-141831;SHGC-142271 APPROVED pseudo HGNC:32211 INFERRED 733488 FLT4 fms-related tyrosine kinase 4 This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 175651089 175699841 - 180028506 180076624 - 180601506 180649624 - 704404;1580863;1334463;2298727;6480464;6484113;6907361;7240710;8552335;8552338;8554872;8699517 15563310;16633338;17584927;21865112;22170007 10579917;10835628;10856194;11279005;11532940;11553610;11574540;11807987;11877295;12048269;12088335;12168824;12393704;12477932;12810700;12819011;12881528;1310071;1319394;1327515;14558949;14648657;14687619;14760756;15102829;15107801;15231748;15297417;15340161;15389531;15474514;15693535;15746084;15878864;15880525;16044920;16076871;16116610;16335952;16375119;16452200;16525637;16530705;16624815;16755294;16959214;17044733;17088944;17458866;17487423;17539024;17597103;17686546;17722983;17761831;17926187;17935478;17945164;17948123;18006056;18008346;18094729;18212541;18279219;18292935;18307927;18440723;18538738;18538739;18561194;18564920;18593464;18594512;18642643;18719607;18829111;18973153;19002718;19039941;19066962;19068081;19099632;19151999;19240177;19289394;19301310;19394045;19556880;19628565;19636022;19701853;19706680;19779139;19787226;19813623;19900702;19901262;19913121;19924384;19940551;19953087;20098747;20182906;20223440;20224550;20237496;20301417;20431062;20452482;20555004;20606037;20628086;20673868;20949568;21163065;21179485;21269982;21635552;21680174;21751212;21805024;21839498;21909098;21912471;21972089;22016416;22179834;22223733;22326635;22366442;22404826;22502683;22512651;22542663;22745786;22797697;22819208;22844119;22939624;22946664;22961441;22965194;23038639;23059885;23059888;23074044;23336661;23404187;23490417;23552426;23580180;23591595;23614535;23737988;23803010;23878260;23939705;24184958;24341227;24398987;24713547;24982366;25109169;7675451;7692369;7898938;7970715;8386825;8662748;8700872;9012504;9345034;9435229;9817924;9927207 2324 AAB23636;D6RFF2;E9PD35;P35916 AB209637;ABBA01010072;AC122714;AK291679;AK309910;AMYH02012908;AMYH02012909;AMYH02012910;AY233382;AY233383;BC027302;CA438330;CH471165;CS067238;CS172288;CS172403;CS172817;CS172819;DB455035;EU826564;EU826565;EU826566;HC040608;HC040723;NG_011536;NM_002020;NM_182925;S66407;U43143;X68203;X69878 AAA85215;AAB23636;AAB28539;AAI67816;AAO89504;AAO89505;ACF47600;ACF47601;ACF47602;BAD92874;BAF84368;CAA48290;CAA49505;CAI84582;CAJ32888;CAJ32905;CAJ33671;CAJ33685;CBH30507;CBH30547;EAW53749;EAW53750;NP_002011;NP_891555;P35916 Hs.646917 1681622;1686306;1764585;5014049 D5S2778;RH80182;RH94055;SHGC-148175 FLT-4;FLT41;LMPH1A;PCL;VEGFR-3;VEGFR3 OTTHUMP00000161539;OTTHUMP00000223511;OTTHUMP00000223512;fms-like tyrosine kinase 4;soluble VEGFR3 variant 1;soluble VEGFR3 variant 2;soluble VEGFR3 variant 3;tyrosine-protein kinase receptor FLT4;vascular endothelial growth factor receptor 3 APPROVED protein-coding ENSG00000037280 HGNC:3767 00636 136352;153100;602089 REVIEWED 1315771 FMNL2 formin-like 2 This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 2 2 2 q23.3 146806351 147120796 + 153191684 153506348 + 152335170 152649834 + 6480464 10737800;11572484;12477932;12684686;14702039;15231748;1538749;18665374;19401682;20101212;20379614;20936779;21071512;21139048;21496865;21832049;21906983;22608513;22678362;22790947;22952844;23201162;23382691;23891004 114793 C9IZY8;Q96PY5 AB067489;ABBA01004792;ABBA01004793;ABBA01004794;ABBA01004795;ABBA01004796;ABBA01004797;AC012066;AC012443;AC093794;AI261893;AI498522;AI870367;AI885827;AK094865;AK131316;AL834396;AMYH02004994;AMYH02004995;AMYH02004996;AMYH02004997;AW293867;AW341595;AW811241;BC014343;BC036492;BC113878;BC114438;BC167159;BQ067763;BU633028;CD105119;CH471058;M78344;NM_052905;XM_005246263;XM_005246265;XM_005246266;XM_006712228;XM_006712229;XR_241279 AAH14343;AAI13879;AAI14439;AAI67159;AAI67804;AAX88959;BAB67795;BAD18479;BAG52944;CAD39058;EAX11485;EAX11486;NP_443137;Q96PY5;XP_005246320;XP_005246322;XP_005246323;XP_006712291;XP_006712292 Hs.654630 1648823;1659278;1669688;1688508;1703600;1704986;1710340;1751609;1768129;1773625;1775066;2107101;2113900;2118584;2123697;2125520;2125522;2137618;2161841;2168538;2174458;2178013 A004T42;A007E32;A008V06;AB063002;AFM205zh8;D2S2790;D2S2833;FMNL2__6740;NIB74;RH17862;RH44684;RH46422;RH69664;RH70131;SHGC-105594;SHGC-30984;SHGC-33498;SHGC-34582;SHGC-78001;SHGC-78687;SHGC-82422;WI-16286 FHOD2;FLJ37546 OTTHUMP00000204908;formin homology 2 domain containing 2;formin homology 2 domain-containing protein 2;formin-like protein 2 APPROVED protein-coding ENSG00000157827 HGNC:18267 13545 REVIEWED 1322289 FMNL1 formin-like 1 This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 q21 40008657 40034050 + 43299192 43324685 + 45221906 45247320 + 1580863;6480464 10958683;12477932;12632087;12684686;14592423;15231748;15489334;16055720;16169070;17081983;18029348;19815554;19946888;20617518;21139048;21148482;21832049;21890473;21906983;22678362;23182705;23460512;23801653;24250222;24255178;24816145;9787083;9799091 752 K7EJE6;K7EK60;K7EMY8;K7ERL1;O95466 ABBA01028318;AC008105;AF432213;AJ008112;AJ008118;AJ008119;AJ008132;AK131091;AMYH02033512;AY278319;BC001710;BC009000;BC021906;BC042925;BC064572;BC073988;BC111564;CH471178;CR456759;FJ534522;NM_005892;XM_006722062;XM_006722063;XM_006722064;XM_006722065;XM_006722066;XM_006722067;XM_006722068;XM_006722069;XM_006722070 AAH01710;AAH09000;AAH21906;AAH73988;AAI11565;AAL99920;AAP32476;ACR19333;BAC85141;CAA07870;CAG33040;EAW51534;EAW51535;EAW51536;EAW51537;EAW51538;NP_005883;O95466;XP_006722125;XP_006722126;XP_006722127;XP_006722128;XP_006722129;XP_006722130;XP_006722131;XP_006722132;XP_006722133 Hs.100217 1664379;1734396;1849938;2109315;2191795 D17S1371E;FMNL1_8237;MARC_7909-7910:1010423816:1;RH11891;WI-16011 C17orf1;C17orf1B;FHOD4;FMNL;KW-13;MGC133052;MGC1894;MGC21878 CLL-associated antigen KW-13;formin-like protein 1;leukocyte formin APPROVED protein-coding ENSG00000184922 HGNC:1212 06876 604656 REVIEWED 736452 FMO1 flavin containing monooxygenase 1 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] 1 1 1 q24.3 144327502 144364465 + 171217610 171255113 + 171248471 171285978 + 1580863;6480464;8554872 10950857;11725960;11809920;12477932;12527699;12642475;12829732;14702039;15144220;15203093;15489334;15987777;16183778;16344560;16531493;16710414;16863467;1712018;17127561;19262426;19336370;19552509;19898482;20056567;20529763;20734064;21082301;21540762;21658281;23147717;7720101;8128486;8311461;8486388;9094723 2326 B2RCG5;Q01740;Q5QPT3 ABBA01027932;ABBA01027933;AK097039;AK290113;AK296198;AK315100;AL021026;AL031274;AL445673;AMYH02002134;AMYH02002135;AY879266;BC047129;BE465459;CH471067;DA537896;DA750161;M64082;NM_001282692;NM_001282693;NM_001282694;NM_002021;XM_005245037;XM_005245038;XM_006711241;XM_006711242 AAA52457;AAH47129;AAW56076;ADR82682;BAF82802;BAG37562;BAH12280;EAW90892;EAW90893;EAW90894;EAW90895;NP_001269621;NP_001269622;NP_001269623;NP_002012;Q01740;XP_005245094;XP_005245095;XP_006711304;XP_006711305 Hs.1424 1688913;1692860;1692870;1701658;1795848;1857393;2138655;2158140 D1S3516;FMO1_632;G16236;G42297;G42302;RH104486;RH79904;SHGC-75897 FMO 1 Flavin-containing monooxygenase 1 (fetal liver);OTTHUMP00000033536;OTTHUMP00000033537;dimethylaniline monooxygenase [N-oxide-forming] 1;dimethylaniline oxidase 1;fetal hepatic flavin-containing monooxygenase 1 APPROVED protein-coding ENSG00000010932 HGNC:3769 00631 136130 REVIEWED 2881129 FMO11P flavin containing monooxygenase 11, pseudogene 1 1 1 q24.1 139841960 139867153 + 166736807 166762004 + 166767570 166792767 + 15077013 100337590 ABBA01047258;AL008639;AMYH02002078;NG_016468 pseudo HGNC:32212 INFERRED 1606996 FMNL3 formin-like 3 The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 12 12 12 q13.12 48827398 48896876 - 50031724 50101197 - 49637941 49707414 - 6480464;8554872 12477932;12684686;14702039;15231748;18029348;20467438;20862687;21139048;21832049;22275430;22678362;22790947;23000965;23891004;24223803;9171351 91010 F8VYL1;F8W1F5;Q8IVF7 AB095934;ABBA01031530;AC020612;AK095874;AK127200;AK128195;AL162062;AMYH02026447;BC033181;BC090955;BC159100;BQ707902;CH471111;NM_175736;NM_198900;XM_005269218;XM_005269219;XM_006719686 AAH33181;AAI59101;AAI60099;BAC23110;BAC87319;BAG54450;CAB82400;EAW58086;EAW58087;EAW58088;NP_783863;NP_944489;Q8IVF7;XP_005269275;XP_005269276;XP_006719749 Hs.179838 1649624;1653913;1663511;1683543;2107103;2107795;2109417;2117876;2148137;2191053 FMNL3__6741;HYPC_9405;MARC_13823-13824:1006879352:1;MARC_34442-34443:1063639913:2;RH48030;RH68421;RH77880;RH91412;STS-N63095;WI-17686 DKFZp762B245;FHOD3;FLJ45265;MGC45819;WBP-3;WBP3 OTTHUMP00000241793;OTTHUMP00000241794;OTTHUMP00000241796;WW domain binding protein 3;WW domain-binding protein 3;formin homology 2 domain-containing protein 3;formin-like protein 3 APPROVED protein-coding ENSG00000161791 HGNC:23698 17007 VALIDATED 1603333 FMO6P flavin containing monooxygenase 6 pseudogene ENCODES a protein that exhibits flavin adenine dinucleotide binding (inferred); N,N-dimethylaniline monooxygenase activity (inferred); NADP binding (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH (2,4,5-trichlorophenoxy)acetic acid (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3-isobutyl-1-methyl-7H-xanthine (ortholog) 1 1 1 q24.3 144216786 144240611 + 171106879 171130702 + 171137740 171161563 + 6480464 12130684;12527699;15077013;16710414;19898482;22903471 388714 B5MDN4;O60774 ABBA01027934;AK130511;AL021026;AMYH02002132;NR_002601 Hs.448988 FLJ27001;FMO6 pseudo ENSG00000117507 HGNC:24024 18387 PROVISIONAL 733627 FMO2 flavin containing monooxygenase 2 (non-functional) This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] 1 1 1 q24.3 144264292 144291650 + 171154388 171181822 + 171185249 171212683 + 1580863;6480464;8554872 11042094;11744609;12214664;12477932;12527699;1417778;14702039;15144220;15155844;15294458;15355885;1542660;15489334;15864117;15922018;16183778;16344560;16428471;16710414;18234543;18423897;18794725;18930751;18948378;19420133;19898482;20173083;20529763;22830265;24561181;7720101;8128486;8311461;8786146;8889548;9804831 2327 Q5JPC7;Q99518 ABBA01027934;AI821378;AK098145;AK304385;AK312877;AL021026;AL833218;AMYH02002134;AY916056;BC005894;BI766311;BT006979;CA312067;CH471067;DB224311;DB236882;KF459607;NM_001301347;NM_001460;R95468;XM_005245039;XR_426768;Y09267 AAH05894;AAP35625;AAW82431;ABM84459;ABM84674;BAG35728;BAG65221;CAA70462;CAI46191;EAW90889;NP_001288276;NP_001451;Q99518;XP_005245096 Hs.144912 1692858;1788300;1788302;1788304;1788306;1788308;1788310;1788312;2125783;2174285;2218536 FMO2_3015;G42296;G67459;G67460;G67461;G67462;G67463;G67464;G67465;SHGC-75894;STS-Y09267 FLJ40826;FMO 1B1;FMO 2;FMO1B1 FMO, pulmonary;OTTHUMP00000033539;dimethylaniline monooxygenase [N-oxide-forming] 2;dimethylaniline oxidase 2;flavin containing monooxygenase 2;pulmonary flavin-containing monooxygenase 2 APPROVED protein-coding HGNC:3770 04903 603955 REVIEWED 2881128 FMO7P flavin containing monooxygenase 7 pseudogene 1 1 1 q24.1 139549310 139556131 + 166443982 166450802 + 166474745 166481565 + 15077013 100337589 ABBA01047262;AL583804;AMYH02002077;NG_016467 pseudo HGNC:32208 INFERRED 734270 FMO3 flavin containing monooxygenase 3 Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Aug 2009] 1 1 1 q24.3 144169885 144196864 + 171060018 171086961 + 171090877 171117821 + 1580863;1626466;1626461;6480464;7240710;8554872;8699517 16324215;9536088 10338091;10479479;11191884;11266081;11551524;11717182;11809920;12477932;12527699;12814961;12893987;12903042;15203093;1542660;15489334;15618753;15623613;16183778;16214918;16481213;16598836;16600650;16710414;16800822;16858129;16863467;16996766;17096187;17142560;17257434;17531949;17559352;17584019;17786630;17881660;17885620;18051367;18180394;18305374;18443301;19321370;19336370;19356079;19571433;19577495;19761368;19898482;20056567;20173083;20182906;20198379;20301282;20529763;20679960;20734064;21075259;2203193;22409263;22819296;22903471;23147717;23211429;23266626;23350966;23510775;23567996;23791655;23855261;24173915;24448396;4195988;5048998;7568243;7720103;7749747;8104117;8117928;8125298;8128486;8486388;8654418;9207220;9398858;9417913 2328 P31513;Q53FW5;V9GYP3;V9GZ60 ABBA01027934;ABBA01027935;AI478384;AK223166;AK296105;AK298406;AK310785;AK313197;AL021026;AMYH02002131;AMYH02002132;AY895830;BC032016;BM453951;CH471067;KF510701;M83772;NG_012690;NM_001002294;NM_006894;U39960;U39961;U39962;U39963;U39964;U39965;U39966;U39967;XM_005245044;Z47552 AAA86284;AAC51932;AAH32016;AAW65372;ABM83355;ABM86569;BAD96886;BAG36013;BAH12258;BAH12779;CAA87632;EAW90886;EAW90887;EAW90888;NP_001002294;NP_008825;P31513;XP_005245101 Hs.445350 1674626;1677430;1788486;1788488;1788490;1788492;1788494;1788496;1788498;5037552 D8S2279;G67583;G67584;G67585;G67586;G67587;G67588;G67589;RH1468;RH70128 FMO 3;FMO II;FMOII;MGC34400;TMAU;dJ127D3.1 FMO form 2;OTTHUMP00000033540;dimethylaniline monooxygenase [N-oxide-forming] 3;dimethylaniline oxidase 3;flavin-containing monooxygenase 3;hepatic flavin-containing monooxygenase 3;hepatic flavin-containing monooxygenase-3;trimethylamine monooxygenase APPROVED protein-coding ENSG00000007933 HGNC:3771 00633 136132;602079 REVIEWED 731768 FMO4 flavin containing monooxygenase 4 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq, Sep 2013] 1 1 1 q24.3 144392833 144420570 + 171283318 171311223 + 171314179 171342084 + 1580863;6480464;8554872 11551524;12477932;12527699;1417778;15489334;16710414;19307449;19898482;20529763;7720101;8128486;8311461;8702731 2329 P31512 ABBA01027932;AL031274;AMYH02002136;AY882422;BC002780;BT007444;CH471067;NM_002022;XM_005245045;XM_005245046;XM_005245048;XM_006711243;Z11737 AAH02780;AAP36112;AAW56938;ABM81610;ABM84792;CAA77797;EAW90896;EAW90897;NP_002013;P31512;XP_005245102;XP_005245103;XP_005245105;XP_006711306 Hs.386502 1692874;1756959;1770211;1795850;2151755;2162225 D11S4630;FMO4_1400;G42304;RH11097;RH36551;SHGC-144131 FMO 4;FMO2 OTTHUMP00000033541;dimethylaniline monooxygenase [N-oxide-forming] 4;dimethylaniline oxidase 4;hepatic flavin-containing monooxygenase 4 APPROVED protein-coding ENSG00000076258 HGNC:3772 00632 136131 REVIEWED 2303673 FMO8P flavin containing monooxygenase 8 pseudogene 1 1 1 q24.1 139640726 139655258 + 166535415 166549948 + 166566178 166580711 + 15077013 100129007 ABBA01047262;AL611962;AMYH02002077;NG_009755 1751693;2115055;2184216 AL010036;D1S3127;SHGC-105743 pseudo HGNC:32209 INFERRED 1605888 FMO9P flavin containing monooxygenase 9 pseudogene 1 1 1 q24.1 139678454 139699776 + 166573153 166594475 + 166603916 166625238 + 12477932;15077013 116123 ABBA01047260;ABBA01047261;AL611962;AMYH02002077;BC014341;KF459734;KF459736;KF459737;NR_002925 Hs.348539 1337277;1785976;5015075 D1S2673;SHGC-152377;SHGC-153213 MGC23941 pseudo ENSG00000215834 HGNC:32210 14011 PROVISIONAL 4144950 FMR1-AS1 FMR1 antisense RNA 1 X X X q27.3 147342926 147355618 - 146990949 147003676 - 147909431 147922158 - 17921506;18213394 100126270 ABBA01054154;ABBA01054155;ABBA01054156;AMYH02040746;EU048200;EU048201;EU048202;EU048203;EU048204;EU251065;EU251066;EU251067;EU251068;FJ887036;KC877972;KF454876;L29074;NR_024499;NR_024500;NR_024501;NR_024502;NR_024503 ABV80253;ABV80254;ABV80255;ABV80256;ABV80257 Hs.561999 1711864;1741977;1743509;1743511;1743513;1743801;1743815;1744537;1745261;1745695;1746085;1746087;1787208;1793398;5117346 G49466;G64324;G64325;GDB:187391;GDB:342153;GDB:342159;GDB:342162;GDB:373842;GDB:374079;GDB:512343;GDB:512353;GDB:596304;GDB:631926;PMC21627P1;SHGC-106578 ASFMR1;FMR1-AS;FMR1AS;FMR4 APPROVED ncrna HGNC:39081 300805 VALIDATED 1354505 FMR3 fragile X mental retardation associated 3 56247 HGNC:3777 1353289 FMOD fibromodulin Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 1 1 1 q32 176439022 176449562 - 203309749 203320557 - 203340621 203351429 - 1580863;2315073;2315079;2311412;2311416;6480464 11259366;15196146;16868749;19955224 11012890;11400162;12477932;14702039;15471955;15592176;15741214;16046396;16123076;16344560;17117407;17252022;17293598;17395685;17623650;18448071;18620607;18838168;19008226;19041686;19242838;19422643;19474808;19536175;19700767;19710942;20467438;20813009;21671058;21743019;22073367;22099931;22138190;22622142;23251661;24355922;25011449;7851907;7919526;8093006;8357838;8889548;9573366;9688269 2331 B3KS64;Q06828;Q12833 ABBA01027482;AK092899;AK172740;AK291632;AK303866;AL359837;AL542756;AMYH02002513;BC035281;BQ183885;BQ188750;CH471067;DA918421;DC296345;HH958029;NM_002023;NR_103757;U05291;X72913;X75546 AAA16153;AAH35281;ABM83038;ABM86232;BAF84321;BAG52626;BAG54775;BAG64805;CAA51418;CAA53233;CBX51278;EAW91477;EAW91478;NP_002014;Q06828 Hs.519168 1649559;1666284;1666286;1712238;1754001;1781794;2107105;2118301;2129036;2136552;2142769;5017574 AL009277;AL009327;D1S3290;FMOD;FMOD__6742;G34807;G54027;RH70538;RH71292;SHGC-132049;SHGC-156039;WI-7331 FM;SLRR2E KSPG fibromodulin;OTTHUMP00000034098;collagen-binding 59 kDa protein;fibromodulin proteoglycan;keratan sulfate proteoglycan fibromodulin APPROVED protein-coding ENSG00000122176 HGNC:3774 02591 600245 REVIEWED 1350348 FN3K fructosamine 3 kinase A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines which may result in deglycation. [provided by RefSeq, Feb 2012] 17 17 17 q25.3 77288245 77303864 + 80693452 80709073 + 82735576 82751197 + 1580863;6480464 11016445;11522682;11975663;12477932;14641062;14702039;15102834;15331600;15381090;15489334;16037310;16523184;16920277;19834870;20858683;21253391;21288167;21924559;23492569;24244560 64122 B4DH12;Q9H479 ABBA01019700;ABBA01019701;AC024361;AJ404615;AK054838;AK294871;AMYH02034170;AMYH02034171;BC042680;CH471099;KF456334;NM_022158 AAH42680;BAG51431;BAG57973;CAC16393;EAW89819;EAW89820;NP_071441;Q9H479 Hs.151135 fructosamine-3-kinase APPROVED protein-coding ENSG00000167363 HGNC:24822 16336 608425 VALIDATED 733168 FMO5 flavin containing monooxygenase 5 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 1 1 1 q21.1 122287637 122328963 + 146655884 146697390 - 147184305 147225798 - 1334486;1580863;6480464;8554872 8786146 11128045;11551524;12477932;12490590;12527699;14702039;16183778;16344560;16710414;19834535;19898482;20379614;7720101;7872795;8125298;8128486;8311461;9119381;9305407 2330 E9PJF3;E9PP51;E9PQ84;P49326;Q53H53;Q9HA79 ABBA01004398;AC241584;AC242426;AK022172;AK222728;AK225739;AK314647;AL356378;AY902236;BC020872;BC035687;CH471223;DA354058;DB230162;L37080;NM_001144829;NM_001144830;NM_001461;XM_005272946;XM_005272947;XM_005272948;XM_006711244;XM_006711245;Z47553 AAA67849;AAH35687;AAW69390;BAB13975;BAD96448;BAG37208;CAA87633;CAH72648;CAH72649;EAW50939;EAW50940;EAW50941;EAW50942;EAW50943;NP_001138301;NP_001138302;NP_001452;P49326;XP_005273003;XP_005273004;XP_005273005;XP_006711307;XP_006711308 Hs.642706 1654420;1671962;1681799;1688436;1692430;1701064;1709666;1855203;2124809;2136448;2152806;2157353;2162641;2169621;2218538 AL009757;AL033864;D1S3324;D5S2639;FMO5_314.3;G34829;RH104159;RH47920;RH80671;SHGC-146;SHGC-162;SHGC-184;SHGC-35897;SHGC-85204;WI-18060 FMO 5 OTTHUMP00000016306;OTTHUMP00000016307;OTTHUMP00000231953;OTTHUMP00000231954;dimethylaniline monooxygenase [N-oxide-forming] 5;dimethylaniline oxidase 5;flavin containing monooxygenase;hepatic flavin-containing monooxygenase 5 APPROVED protein-coding ENSG00000131781 HGNC:3773 04904 603957 REVIEWED 1346520 FMR1NB fragile X mental retardation 1 neighbor FOUND IN nucleolus; INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene; copper(2+) sulfate X X X q28 147414813 147460151 + 147062849 147108187 + 147981329 148026667 + 737633;6480464 12477932 12601173;14702039;15489334;17207965;18029348;21318630;22808956 158521 F2Z3J3;Q8N0W7 ABBA01054144;ABBA01054145;ABBA01054146;ABBA01054147;ABBA01054148;ABBA01054149;ABBA01054150;AK098602;AMYH02040747;AY211917;BC034320;CH471171;KF459464;KF459465;KF459466;KF459468;KF495672;L29074;NG_016349;NM_152578 AAH34320;AAO65170;ADQ31608;BAC05349;EAW61291;EAW61292;NP_689791;Q8N0W7 Hs.128580 1705848;2136593 DXS7378;SHGC-81182 CT37;FLJ25736;NY-SAR-35;NYSAR35 OTTHUMP00000024202;cancer/testis antigen 37;fragile X mental retardation 1 neighbor protein;sarcoma antigen NY-SAR-35 protein-coding ENSG00000176988 HGNC:26372 06546 VALIDATED 7174903 FNBP1P2 formin binding protein 1 pseudogene 2 3 3 3 30787142 30788160 - 30850170 30851188 - 30808678 30809696 - 100419875 ABBA01024960;AC138391;AMYH02006477;NG_025560 pseudo HGNC:44527 INFERRED 7174910 FNBP1P1 formin binding protein 1 pseudogene 1 2 2 74347810 74350343 + 74120683 74123216 + 100533642 ABBA01075598;AC073263;AMYH02004088;NG_028779 pseudo HGNC:44528 INFERRED 1606224 FN3KRP fructosamine 3 kinase related protein A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 17 17 17 q25.3 77269271 77280593 + 80674582 80685893 + 82716706 82728017 + 6480464 11230166;12477932;14633848;14702039;15137908;15381090;15489334;16037310;16344560;16920277;17207965;17686456;18637789;19615732;20858683;21139048;21145461;21832049;21890473;21906983;24244560 79672 I3L139;I3L2G3;I3L2K8;I3L378;I3L3W5;I3L407;Q9HA64 AA766235;ABBA01019699;AC024361;AK022233;AK293523;AK301958;AK315373;AL136631;AMYH02034170;AY360465;BC001458;BC007611;BC014408;CH471099;CR533461;DA019669;NM_024619;NR_046408 AAH01458;AAH07611;AAH14408;AAQ72344;ADQ32662;BAB13992;BAG37766;BAG57005;BAG63372;CAB66566;CAG38492;EAW89817;EAW89818;NP_078895;Q9HA64 Hs.31431 2149810;5024246 D17S724;RH12502 FLJ12171;FN3KL FN3K-RP;FN3K-related protein;fructosamine-3-kinase-related protein;ketosamine-3-kinase APPROVED protein-coding ENSG00000141560 HGNC:25700 13546 611683 VALIDATED 1352740 FND frontonasal dysplasia 2336 HGNC:3779 1350700 FNBP1 formin binding protein 1 The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008] 9 9 9 q34 103300574 103456565 - 132649458 132805473 - 129887179 130043194 - 6480464;8554872 11431473;11438682;12023017;12244061;12421766;12477932;12736724;14502124;14596906;14702039;14732713;15047863;15144186;15164053;15252009;15302935;15489334;15592455;16193335;16318909;16326391;16418535;16630611;16964243;17512409;18923421;19041431;19155218;19322201;20379614;20562859;20729836;21768103;21890473;21906983;22505724;22558309;22939629;23525018;24816145;9628581 23048 B7ZL12;B7ZL13;B7ZL14;E7EPB7;E9PGQ4;H0Y7W6;Q96RU3 AB011126;ABBA01043952;ABBA01043953;ABBA01043954;ABBA01043955;ABBA01043956;ABBA01043957;ABBA01043958;ABBA01043959;ABBA01043960;ABBA01043961;ABBA01043962;AF265550;AK000975;AK001616;AK023681;AK090963;AK293743;AL049935;AL136141;AL158207;AL832949;AMYH02021747;AMYH02021748;AMYH02021749;AMYH02021750;AMYH02021751;AW575478;AY952886;BC009262;BC018159;BC062463;BC101755;BC143513;BC143514;BC143515;CH471090;CK005680;NG_033946;NM_015033;XM_005251815;XM_005251816;XM_005251817;XM_005251818;XM_005251819;XM_005251820;XM_005251821;XM_005251822;XM_005251823;XM_005251824;XM_005251825;XM_005251826;XM_005251827;XM_005251828;XM_005251829;XM_005251830;XM_005251831;XM_005251832;XM_005251833;XM_005251834;XM_006717016;XM_006717017 AAH62463;AAI01756;AAI43514;AAI43515;AAI43516;AAK49824;BAA25480;BAA91451;BAB14638;BAG57166;EAW87916;EAW87917;EAW87918;EAW87919;NP_055848;Q96RU3;XP_005251872;XP_005251873;XP_005251874;XP_005251875;XP_005251876;XP_005251877;XP_005251878;XP_005251879;XP_005251880;XP_005251881;XP_005251882;XP_005251883;XP_005251884;XP_005251885;XP_005251886;XP_005251887;XP_005251888;XP_005251889;XP_005251890;XP_005251891;XP_006717079;XP_006717080 Hs.189409 1662144;1665975;1666529;1672630;1724363;1853980;2120750;2120752;2121297;2128189;2145651;2167307;5016478;5022576 A001Z42;D1S1361;D9S1026E;D9S2080;D9S63;G17305;G19830;GDB:434012;RH11589;RH122344;RH12506;RH68067;SGC33386;SGC38089 FBP17;KIAA0554;MGC126804;hFBP17 OTTHUMP00000022353;OTTHUMP00000022354;OTTHUMP00000022355;formin-binding protein 1;formin-binding protein 17 APPROVED protein-coding ENSG00000187239 HGNC:17069 10446 606191 REVIEWED 6481027 FNDC1-IT1 FNDC1 intronic transcript 1 (non-protein coding) 100874312 AL590551 ncrna HGNC:41460 1352769 FNDC2 fibronectin type III domain containing 2 387083 HGNC:21183 735919 FMR1 fragile X mental retardation 1 The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] X X X q27.3 147345446 147384585 + 146993469 147032647 + 147911951 147951127 + 1580863;704404;1601178;6480464;7240710;8554872;8699517 1675488 10398250;10527928;10556305;10567518;10729312;10888599;11119302;11129329;11142760;11142761;11162447;11256870;11367701;11415517;11438699;11443541;11445641;11545690;11840495;11854169;11897823;11992259;12107447;12112763;12116230;12116303;12147688;12210320;12232854;12378270;12388589;12417734;12477932;12515381;12529854;12594214;12596051;12745094;12810982;12837692;12927206;12950170;14570712;14599277;14746957;14747503;14755444;14993603;15000256;15065016;15096575;15121898;15146197;15175277;15282548;15300658;15303970;15377638;15381024;15381419;15483045;15483640;15563507;15608041;15617547;15629215;15642922;15659577;15696166;1572655;15741991;15742217;15805463;15861180;15879417;15929093;15930016;15950084;15956167;15971024;16006558;16049924;16055059;16078053;16117724;16161415;16184602;16271017;16319129;16337617;16361284;16407062;16456258;16500716;16500891;16508954;16636078;16708166;16793928;16819831;16891414;16905681;16907702;17044853;17097142;1710175;17101793;17179750;17196195;17283214;17290448;17506288;17548778;1757956;17588953;17620491;17674408;17714511;17850748;17881655;17917121;17922850;17932962;17962727;17966892;17978095;18057083;18057320;18074381;18093976;18163424;18165971;18172867;18181681;18211155;18225979;18273822;18310361;18310677;18323308;18357616;18373410;18384775;18384784;18403614;18412117;18413472;18427356;18471319;18472033;18487560;18535897;18553360;18565783;18570292;18583885;18628788;18630123;18632687;18656952;18664458;18687789;18789568;18922172;18973899;19005212;19026394;19041959;19056494;19097999;19105204;19116286;1913811;19147914;19155329;19193898;19197218;19204162;19211207;19215057;19235102;19249802;19265746;19273535;19341325;19361583;19367323;19396385;19422761;19436069;19481741;19487368;19525339;19542082;19574928;19574929;19619908;19642041;19712568;19728537;19760650;19764037;19778484;19794313;19796183;19804849;19805454;19806593;19810826;19853235;19863547;19864489;19908235;19927162;19946888;20047076;20059484;20082462;20118148;20141036;20149747;20168238;20187721;20221430;20228389;20298211;20301558;20362512;20378415;20398889;20410144;20431035;20435064;20442204;20473314;20537351;20562859;20573435;20597902;20616364;20629912;20727716;20734064;20816038;20843831;20938029;20955631;20961665;20981777;21047554;21116185;21139048;21179569;21182205;21209411;21254619;21254876;21270637;21276648;21295394;21335413;21389081;21427756;21443343;21445959;21478165;21484870;21526209;21554789;21567456;21576079;21596781;21597380;21630353;21639881;21642970;21651511;21723415;21749915;21767618;21775729;21785977;21786216;21818263;21868366;21903422;21909353;21932336;21944929;21969264;22001913;22022567;22080836;22101959;22102001;22118674;22157911;22161987;22207187;22210492;22211843;22235103;22251309;22266345;22351071;22357842;22387066;22430918;22438971;22489017;22493044;22498846;22507827;22528549;22539853;22561129;22568721;22573456;22579290;22581803;22584570;22586326;22619118;22708486;22737234;22797890;22797925;22808956;22811313;22842191;22863780;22880518;22887750;22890812;22903700;22914733;22924671;22963248;22984553;22993428;23009394;23060046;23084401;23111161;23123760;23146966;23154068;23198693;23211703;23219959;23235829;23298734;23307923;23313071;23356558;23390134;23392687;23504400;23523717;23528734;23537988;23560306;23660422;23703681;23731704;23739124;23740716;23753897;23760159;23824909;23838275;23867198;23874213;23896050;23949867;24045061;24092663;24141422;24207117;24249225;24250222;24261641;24289922;24332449;24398265;24457600;24578575;24722188;24778252;24816145;2988332;7141005;7489725;7633450;7670500;7688265;7692601;7781595;7825604;8069329;8095365;8156595;8348153;8358432;8401496;8401531;8401578;8490650;8504300;8515814;8528261;8668200;8789445;9302998;9375856;9497258;9659908;9829913 2332 A8MQB8;F8W871;G3V0J0;G8JLE9;Q06787;Q8IXW7;R9WQY1 AB209188;ABBA01054151;ABBA01054152;ABBA01054153;ABBA01054154;AK294104;AK302707;AMYH02040746;BC038998;BC086957;BQ213316;BQ287827;BQ417290;BX498094;CH471171;CK825936;CN315330;CX871385;KC774027;KC774028;KC774029;KC877972;KC877974;KF454876;KF459457;KF495784;KF510164;KF510171;KF856234;KJ534836;KJ534837;KJ534838;L19476;L19477;L19478;L19479;L19480;L19481;L19482;L19483;L19484;L19485;L19486;L19487;L19488;L19489;L19492;L19493;L29074;M67468;NG_007529;NM_001185075;NM_001185076;NM_001185081;NM_001185082;NM_002024;NR_033699;NR_033700;S65791;S76590;X69962 AAA52458;AAA62452;AAA62453;AAA62454;AAA62455;AAA62456;AAA62457;AAA62458;AAA62459;AAA62460;AAA62461;AAA62462;AAA62463;AAA62464;AAA62465;AAA62468;AAA62469;AAB18828;AAB18829;AAB18830;AAB18831;AAB18832;AAB18833;AAB28395;AAD14228;AAH38998;AAH86957;AGO02164;AGO02165;AGO02166;AHI43787;AHW56476;AHW56477;AHW56478;BAD92425;BAG57439;BAG63929;CAA49586;EAW61293;EAW61294;EAW61295;EAW61296;EAW61297;EAW61298;EAW61299;EAW61300;EAW61301;EAW61302;EAW61303;NP_001172004;NP_001172005;NP_001172010;NP_001172011;NP_002015;Q06787 Hs.103183 1702250;1711864;1712543;1741405;1741977;1743509;1743511;1743681;1743801;1743815;1745261;1745695;1746085;1746087;1746683;1775002;1787208;1795852;2122677 FMR1_634;G49466;G64324;G64325;G64326;GDB:181087;GDB:187391;GDB:190037;GDB:342153;GDB:342159;GDB:370773;GDB:373842;GDB:374079;GDB:596304;GDB:631926;L23971;SHGC-106578;STS-X69962;WI-18960 FMR-1;FMRP;MGC87458;POF;POF1 FRAXA;OTTHUMP00000024197;OTTHUMP00000024199;OTTHUMP00000024200;OTTHUMP00000024201;fragile X mental retardation 1 protein;fragile X mental retardation protein 1;fragile x mental retardation syndrome 1 homolog;premature ovarian failure 1 APPROVED protein-coding ENSG00000102081 HGNC:3775 02398 300623;300624;309550;311360 REVIEWED 1321663 FNDC1 fibronectin type III domain containing 1 INVOLVED IN cellular response to hypoxia (inferred); positive regulation of cardiac muscle cell apoptotic process (inferred); positive regulation of protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; arsenite(3-); lead(0) 6 6 6 q25 160238286 160340329 + 159590429 159693140 + 159169397 159272108 + 6480464;8554872 11347906;12477932;14657397;16098131;20379614;21606135;9704633 84624 J3KNQ2;Q4ZHG4 AB058769;ABBA01021071;AJ586132;AK127635;AL355492;AL356417;AL590551;AL832410;AMYH02014864;AMYH02014865;BC146783;BC150607;CH471051;DQ009660;NM_032532;XM_005267165 AAI46784;AAI50608;AAY26234;BAB47495;BAG54537;CAE51894;CAI46178;EAW47634;NP_115921;Q4ZHG4;XP_005267222 Hs.520525 1664115;1763945;1847907;1854706;2107109;5093604 A009S31;FNDC1__6745;G32816;RH37578;RH78353;SHGC-147606 AGS8;FNDC2;KIAA1866;MEL4B3;RP11-243O10.2;bA243O10.1;dJ322A24.1 OTTHUMP00000017519;OTTHUMP00000207496;activation-associated cDNA protein;expressed in synovial lining protein;fibronectin type III domain containing 2;fibronectin type III domain-containing protein 1 protein-coding ENSG00000164694 HGNC:21184 13547 609991 VALIDATED 4889207 FNDC3CP fibronectin type III domain containing 3C, pseudogene X X X 77662269 77666710 - 77421193 77425634 - 78165696 78170137 - 100421340 ABBA01029561;AL049589;AMYH02039822;NG_026723 pseudo HGNC:35452 INFERRED 1345842 FNDC4 fibronectin type III domain containing 4 FOUND IN endoplasmic reticulum (ortholog); plasma membrane (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; amiodarone; amitriptyline 2 2 2 p23.3 27560925 27564301 - 27714750 27718126 - 27491883 27495259 - 6480464 12384288;12477932;12975309;14702039;15489334;15815621;19913121;20383146;20628086;20705733;21988832;22267201;23022100;23505323 64838 Q9H6D8 ABBA01045208;AC074117;AK026015;AMYH02003479;AY358136;BC024175;BC032725;CH471053;DB452792;NG_028024;NM_022823;XM_005264499 AAH32725;AAQ88503;AAY14849;ABM84948;ABW03632;BAB15321;EAX00569;EAX00570;NP_073734;Q9H6D8;XP_005264556 Hs.27836;Hs.732184 1685059;1697424 RH102212;RH41958 FLJ22362;FRCP1 OTTHUMP00000123425;fibronectin type III domain-containing protein 4;fibronectin type III repeat-containing protein 1 protein-coding ENSG00000115226 HGNC:20239 09965 611905 VALIDATED 1319467 FNBP4 formin binding protein 4 FOUND IN nucleus; INTERACTS WITH (-)-demecolcine; 2-methylcholine; arsenous acid 11 11 11 p11.2 47885438 47936813 - 47738055 47789012 - 47716503 47767460 - 6480464 10231032;10744724;10748127;11292345;11604498;12421765;12477932;14702039;15146197;15231748;15302935;17500595;18029348;19471022;21693764;21963094;22113938;22558309;23703728;24250222;24639526 23360 B3KNP0;F5GXL1;Q8N3X1 AB023231;ABBA01060692;ABBA01060693;AC021443;AK022987;AK054636;AK095093;AK123898;AL137480;AMYH02024738;AMYH02024739;AMYH02024740;BC006557;BC037404;BX537864;CH471064;DB458472;NM_015308;XM_005252833;XM_005252834;XM_006718171;XR_242785;XR_242786;XR_428841 AAH37404;ACE86837;ACE87524;BAA76858;BAB14348;BAG51402;CAB70761;CAD97867;EAW67884;EAW67885;EAW67886;EAW67887;EAW67888;NP_056123;Q8N3X1;XP_005252890;XP_005252891;XP_006718234 Hs.6834 1652555;1655519;1669512;1675483;1677598;1679988;1696884;1858421;2127376;2167752;2190977 D11S4287;MARC_12213-12214:1004716951:1;RH12267;RH12348;RH48286;RH75140;SHGC-13980;SHGC-33749;SHGC-33760;WI-12656;f02503rbk DKFZp686M14102;DKFZp779I1064;FBP30;FLJ41904;KIAA1014 OTTHUMP00000233270;formin-binding protein 30;formin-binding protein 4 protein-coding ENSG00000109920 HGNC:19752 10996 615265 VALIDATED 1604516 FNDC7 fibronectin type III domain containing 7 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; lead(0); lead(2+) 1 1 1 p13.3 107525376 107555183 + 109255556 109285371 + 108712934 108742749 + 6480464;8554872 12477932;14702039 163479 H7C2H6;Q5VTL7 ABBA01068354;AK093157;AL591719;AMYH02001700;BC057762;BC130421;BC144218;CH471122;NM_001144937;XM_005270550 AAH57762;AAI30422;BAC04077;EAW56329;NP_001138409;Q5VTL7;XP_005270607 Hs.258253 FLJ35838;MGC163293;RP11-293A10.2 OTTHUMP00000012822;fibronectin type III domain-containing protein 7 protein-coding ENSG00000143107 HGNC:26668 08195 PROVISIONAL 1346897 FNBP1L formin binding protein 1-like The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p22.1 92167769 92274276 + 93913688 94020218 + 93448091 93554661 + 6480464 12477932;14654988;14702039;15260990;15489334;16169070;16326391;16344560;16418535;16630611;16710414;16757518;16885158;18191793;19213734;19342671;20379614;20730103;21062739;21906983;22824798;22939629;23000965;23358156;24816145 54874 B4DSI7;Q5T0N5;S4R347 ABBA01045523;ABBA01045524;ABBA01045525;AC095034;AK000282;AK025526;AK026988;AK296767;AK299760;AK299943;AK315981;AL109613;AL512651;AMYH02001501;AX058596;AY514449;BC062477;BC074891;BC074892;BX476921;CH471097;DB219295;DW423801;KF454985;NM_001024948;NM_001164473;NM_017737;XM_006710707 AAH62477;AAH74891;AAH74892;AAR98814;BAA91051;BAG59347;BAG61649;BAG61773;BAH14352;CAC22513;EAW73069;EAW73070;EAW73071;NP_001020119;NP_001157945;NP_060207;Q5T0N5;XP_006710770 Hs.134060 1744295;1744297;2126671;2168963;2178272;2179923 G13388;GDB:451589;GDB:451598;SHGC-75167;SHGC-75173;UniSTS:494596 C1orf39;TOCA1;toca-1 OTTHUMP00000012558;OTTHUMP00000012573;OTTHUMP00000012574;formin-binding protein 1-like;transducer of Cdc42-dependent actin assembly 1;transducer of Cdc42-dependent actin assembly protein 1 APPROVED protein-coding ENSG00000137942 HGNC:20851 12317 608848 REVIEWED 1606861 FNDC9 fibronectin type III domain containing 9 FOUND IN integral component of membrane (inferred); INTERACTS WITH fonofos; parathion; terbufos 5 5 5 q33.3 152795154 152799278 - 156768607 156772729 - 157341599 157345721 - 6480464 12477932;16344560;17207965;18029348 408263 E5RIJ1;Q8TBE3 ABBA01044272;AC016571;AK289701;AMYH02012550;BC022570;CH471062;DA173480;DB567325;NM_001001343 AAH22570;ADQ32821;BAF82390;EAW61607;NP_001001343;Q8TBE3 Hs.437066 1776897;5094938 CYFIP2;L31454 C5orf40;MGC27121 OTTHUMP00000160741;OTTHUMP00000224100;fibronectin type III domain-containing protein 9;fibronectin type-III domain-containing protein C5orf40 APPROVED protein-coding ENSG00000172568 HGNC:33547 17524 VALIDATED 1343110 FNDC3B fibronectin type III domain containing 3B ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cell migration (inferred); negative regulation of osteoblast differentiation (inferred); positive regulation of fat cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 3 3 3 q26.31 170157091 170517099 + 171757418 172118493 + 172039628 172400703 + 737633;6480464;8554872 12477932 12975309;14702039;15527760;16303743;18029348;18781797;19322201;19472311;20237496;20379614;20881960;21139048;21987572;22510613;23291589;23563607;23583979;8125298 64778 C9JKH7;Q53EP0 AB098597;ABBA01058653;ABBA01058654;ABBA01058655;ABBA01058656;AC069259;AC069523;AC092964;AC108668;AF543840;AI417065;AK027052;AK075220;AK092465;AK127826;AK223599;AK314478;AL157482;AMYH02008143;AMYH02008144;AMYH02008145;AMYH02008146;AMYH02008147;AY358146;AY358367;BC012204;BC026005;BC033635;BC039297;BX648340;BX648415;CH471052;NM_001135095;NM_022763 AAH12204;AAH33635;AAH39297;AAN65261;AAQ88513;AAQ88733;BAB15639;BAC11480;BAC53727;BAD97319;BAG37083;BAG54580;CAB75672;EAW78470;EAW78471;EAW78472;EAW78473;EAW78474;EAW78475;EAW78476;EAW78477;NP_001128567;NP_073600;Q53EP0 Hs.744888 1340358;1342408;1645596;1648991;1650716;1667239;1699482;1705654;1708600;1735300;1751647;1850514;1852288;1856167;2119474;2122055;2132278;2141263;2143166;2149636;2149638;2152072;2172966;2184272;2186602;2186950;5022578;5024039;5037552;5093662;5093756;5111580;5126241 A006A36;A008K41;A009U32;A009W07;D16S325;D1S1423;D3S1525;D3S2940E;D3S3332;D3S3342;D3S3725;D3S4080;D8S2279;G20658;G29199;G32850;G32905;RH103334;RH36359;RH47715;RH65401;SGC44328;SHGC-105609;SHGC-44328;SHGC-58237;SHGC-77543;SHGC-77544;SHGC-77545;SHGC-77546;SHGC-77551;SHGC-83401;SHGC-85090;WI-12636 DKFZp686D14170;DKFZp762K137;FAD104;FLJ23399;MGC10002;PRO4979;YVTM2421 HCV NS5A-binding protein 37;OTTHUMP00000210532;OTTHUMP00000210534;OTTHUMP00000210535;factor for adipocyte differentiation 104;fibronectin type III domain-containing protein 3B protein-coding ENSG00000075420 HGNC:24670 10943 611909 VALIDATED 1348472 FNL1 fibronectin-like 1 3943369 2337 HGNC:3780 730816 FNTA farnesyltransferase, CAAX box, alpha Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010] 8 8 8 p11 41859884 41889630 + 42911442 42940931 + 43056299 43085788 + 1580863;6480464 10676968;10747914;10852915;11313965;11598000;11687658;12036349;12374986;12477932;12825937;1400319;14702039;15170324;15451670;15489334;16893176;17192483;17353931;18187620;18406652;18654987;19228685;19841875;20403997;21139048;21906983;21988832;22160308;2217184;22863883;23602568;7713879;8106351;8175923;8276393;8419339;8494894;8530343;8599089;8830800;8889548;8910345 2339 AAB26814;B3KVN2;E9PK84;E9PN85;E9PPM9;E9PQP6;H0YCW1;P49354 AB209689;ABBA01021181;ABBA01021182;ABBA01021183;AC110275;AC113191;AK091717;AK123002;AK292121;AL698961;AMYH02017915;BC017029;BC037295;BC084566;BI913631;BM686906;BT009854;BX648381;CH471080;L00634;L10413;NM_002027;NR_033698 AAA35853;AAA86285;AAB26814;AAH17029;AAH84566;AAP88856;BAD92926;BAF84810;BAG53844;EAW63188;EAW63189;EAW63190;EAW63191;EAW63192;NP_002018;P49354 Hs.370312 1681179;1681484;1689075;1718135;1769889;2107111;5015881;5022578;5022651;5037552;7187390 D11S2921;D1S1423;D8S1675;D8S2279;FNTA__6747;GDB:335751;RH122835;RH27289;RH46039;RH68982 FPTA;MGC99680;PGGT1A;PTAR2 FTase-alpha;GGTase-I-alpha;OTTHUMP00000229206;OTTHUMP00000229262;farnesyl-protein transferase alpha-subunit;protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha;protein prenyltransferase alpha subunit repeat containing 2;ras proteins prenyltransferase subunit alpha;type I protein geranyl-geranyltransferase alpha subunit APPROVED protein-coding ENSG00000168522 HGNC:3782 00607 134635 REVIEWED 1348160 FNDC5 fibronectin type III domain containing 5 This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 1 1 1 p35.1 31596509 31606718 - 33327869 33338093 - 32862268 32872492 - 6480464 11591653;12384288;12477932;14702039;16344560;21266472;22237023;22491843;22796012;23001918;23018146;23107305;23219488;23369227;23436919;23578923;23619195;23637927;23665283;23667695;24013946;24040023;24057291;24062088;24114836;24120943;24140091;24237962;24355429;24398403;24399249;24439241;24464712;24559842;24628554;24920292 252995 Q8NAU1 ABBA01023392;ABBA01023393;ABBA01023394;ABBA01023395;ABBA01023396;ABBA01023397;AC114493;AK092102;AMYH02000721;AMYH02000722;BC007548;BC033123;BC062297;BE502835;BX537781;CH471059;CV815003;DA393478;NM_001171940;NM_001171941;NM_153756 AAH62297;BAC03806;CAD97840;EAX07499;EAX07500;EAX07501;EAX07502;NP_001165411;NP_001165412;NP_715637;Q8NAU1 Hs.524234 2122435;2132715;2138403;2182973;5095744 D1S3028;D1S3615;G60185;SHGC-74541;SHGC-74545 FRCP2 OTTHUMP00000004134;OTTHUMP00000004135;fibronectin type III domain-containing protein 5;fibronectin type III repeat-containing protein 2;irisin protein-coding ENSG00000160097 HGNC:20240 17009 611906 REVIEWED 2292121 FNIP2 folliculin interacting protein 2 INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; positive regulation of peptidyl-serine phosphorylation; protein phosphorylation; FOUND IN cytoplasm; microtubule organizing center; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 4 4 4 q32.1 157031205 157168989 + 159690182 159829202 + 158769030 158908050 + 6480464 10819331;12477932;14702039;18029348;18403135;18663353;19914239;20379614;23201403 57600 D6RFH5;H0Y8F3;Q9P278 AB040883;ABBA01070210;ABBA01070211;AC093700;AC107219;AC109823;AK022968;AK057981;AL713802;AMYH02010379;AMYH02010380;BC007861;BC016638;BC030251;BC047069;BU753084;CH471056;DB482145;NM_020840;XM_005263156;XM_005263158;XM_005263159;XM_005263160;XM_005263161;XM_006714281 AAH07861;AAH16638;AAI66693;BAA95974;BAB14338;EAX04852;NP_065891;Q9P278;XP_005263213;XP_005263215;XP_005263216;XP_005263217;XP_005263218;XP_006714344 Hs.652441;Hs.731810 1682263;1684174;1684977;1704576;1710134;1777957;1788422;1855485;2158734;2166724;5022637 D11S2766;D4S2535E;RH25875;RH45922;SHGC-57495;SHGC-59336;SHGC-68047;SHGC-68119;SHGC-81554;SHGC-83096;fc02f11.x1 FNIPL;KIAA1450;MAPO1 FNIP1-like protein;O6-methylguanine-induced apoptosis 1 protein;OTTHUMP00000220933;OTTHUMP00000221326;folliculin-interacting protein 2 protein-coding ENSG00000052795 HGNC:29280 612768 VALIDATED 1348177 FNTAP2 farnesyltransferase, CAAX box, alpha pseudogene 2 13 13 13 q12.11 3166903 3168070 + 22104828 22105995 + 21530689 21531856 + 12956414;8276393 2341 ABBA01068607;AL138680;AMYH02027661;NG_005138 1689075;7187390 D8S1675;RH68982 FNTAL2 APPROVED pseudo HGNC:3784 INFERRED 1354235 FNDC3A fibronectin type III domain containing 3A ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN fertilization (inferred); Sertoli cell development (inferred); single organismal cell-cell adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus; membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; cyclosporin A 13 13 13 q14.2 30605901 30839799 + 49550048 49783915 + 48975912 49209779 + 6480464;8554872 10231032;12168954;12477932;14702039;15057823;15489334;17081983;18029348;18218838;19322201;19946888;21832049;23639254;8889548 22862 G5E9X3;H7C507;Q9Y2H6 AB023187;ABBA01051013;ABBA01051014;ABBA01051015;AJ749706;AJ749707;AK001140;AK056071;AK172814;AK302415;AL137000;AL161421;AL359184;AMYH02028006;AMYH02028007;AMYH02028008;AMYH02028009;AMYH02028010;BC036010;BC051029;BC060816;BC070072;BC107793;BC132812;BC136617;BC144301;BM973827;BX640739;BX648141;BX648706;CH471075;DB460317;NM_001079673;NM_001278438;NM_014923;NR_103528;XM_006719777 AAH60816;AAH70072;AAI32813;AAI36618;AAI44302;BAA76814;BAD18784;BAG63723;CAE45852;CAG44602;CAG44603;CAI45989;EAX08803;EAX08804;EAX08805;EAX08806;EAX08807;EAX08808;EAX08809;EAX08810;NP_001073141;NP_001265367;NP_055738;Q9Y2H6;XP_006719840 Hs.508010 1653829;1660116;1660990;1672771;1681732;1690410;2127959;2130683;2168955;2173408;2176503;5015961;5022200;5092804 A005T12;A006G05;D13S1171;D15S1477;G28207;G32341;L18426;RH44749;RH45056;RH45787;RH47134;RH69432;RH98674;WI-18286 FLJ31509;FNDC3;HUGO;KIAA0970;RP11-203I16.5;bA203I16.1;bA203I16.5 OTTHUMP00000018404;OTTHUMP00000214998;OTTHUMP00000214999;OTTHUMP00000215000;fibronectin type-III domain-containing protein 3A;human gene expressed in odontoblasts protein-coding ENSG00000102531 HGNC:20296 13548 615794 VALIDATED 1352316 FOCAD focadhesin ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN focal adhesion; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 9 9 9 p21 20596817 20934232 + 20658309 20995954 + 20658310 20995955 + 6480464;8554872 11347906;12477932;14702039;16344560;19204726;20379614;20601674;21139048;21890473;21900206;21906983;21963094;22145905;22427331;23000965;24250222;8125298 54914 B3KNV9;Q5VW36;S4R3N8;S4R3S9;S4R400;S4R437;S4R450 AB058700;ABBA01065179;ABBA01065180;ABBA01065181;ABBA01065182;ABBA01065183;ABBA01065184;ABBA01065185;AK000382;AK055116;AK056522;AK172818;AK225483;AL354879;AL392163;AL445624;AL512738;AL662879;AMYH02019274;AMYH02019275;AMYH02019276;AMYH02019277;AMYH02019278;AMYH02019279;AMYH02019280;AY139834;BC001246;CH471071;CQ834730;DB288580;KF458909;NM_017794;XM_005251494;XM_006716794 AAH01246;AAN17740;BAA91129;BAB47426;BAB71203;BAD18787;BAG51471;CAH05580;EAW58627;EAW58628;EAW58629;NP_060264;Q5VW36;XP_005251551;XP_006716857 Hs.136247 1652216;1662736;1674123;1752165;1753283;1757691;2131095;2145695;2148657;2161648;2161805;5093056 A009E47;D9S1730;G32493;RH16145;SHGC-106080;SHGC-14450;SHGC-146263;SHGC-5879;SHGC-6726;SHGC-85660;STS-Z40712;WI-15647 FLJ20375;KIAA1797 OTTHUMP00000069845;hypothetical protein LOC54914;uncharacterized protein KIAA1797 APPROVED protein-coding ENSG00000188352 HGNC:23377 11162 614606 VALIDATED 8548092 FOCAD-AS1 FOCAD antisense RNA 1 9 9 p21.3 20683301 20685122 - 20683302 20684874 - 101929548 ABBA01065184;AL354879;AMYH02019274;BX115825;NR_121601;XR_242535;XR_250445;XR_252516 Hs.668302 ncrna HGNC:49789 VALIDATED 736627 FN1 fibronectin 1 This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants. However, the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q34 209994808 210070377 - 216225177 216300890 - 215360454 215436167 - 1580863;1358624;704404;1601179;6480464;6484113;6907045;7206842;7205469;7205473;7205637;7206843;7206844;7205466;2325720;7240710;7205460;7205461;7205629;7206838;7206839;7205470;7205474;7205680;729934;7206845;7205684;7206847;7206846;7205459;7205701;8554872;8699517 10082755;11025758;11213886;11352844;11768240;12065530;12218318;12621118;12651615;12716757;12884040;14986037;15925904;16301823;17324142;19097859;19616291;19695229;20012564;20347014;20484935;20860816;22937115;6665521;7806580 10075919;10196121;10451539;10464263;10470078;10470109;10627046;10647176;10706716;10772816;10783396;10823831;10848816;11010812;11023498;11024059;11134254;11149921;11157741;11180285;11276204;11285119;11285216;11311202;11342427;11344214;11419941;11423128;11423542;11493006;11500098;11605051;11686302;11737888;11751853;11752017;11773026;11775745;11795204;11801638;11801679;11829448;11832485;11847210;11864705;11867580;11867643;11891225;11928812;11937267;11956183;11960984;11981027;11997396;12034705;12069579;12091360;12100475;12105189;12119020;12119179;12127832;12127836;12149247;12180907;12225805;12225811;12270980;12388756;12401883;12468382;12477932;12486316;12497612;12527107;12535082;12538453;12538576;12631068;12736686;12761244;12802498;12810082;12902636;12917446;1311202;1372909;1400330;1409674;1423622;14558920;14602715;14645245;14662883;1468447;14695199;14702039;14709558;14718574;14737076;14760718;15060148;15161923;15165854;15174051;15213410;15231748;15247227;15265957;15308636;1532572;15331608;15331737;15384859;15456495;15456743;15467744;15485890;15609325;15645125;15652337;15699160;15717924;15721303;15799029;15806100;15835821;15855153;15890670;15912204;15961545;16005629;16055535;16083879;16091757;16106752;16150826;16157329;16159961;16236823;16277979;16322219;1632457;16335952;16336961;16375583;16378831;16463680;16495290;16498633;16581250;16621928;16757476;16839338;16928957;16933105;1694173;16978691;16982604;16984808;16986166;17003032;17015452;17027088;17081983;17136547;17187346;17266699;17273763;1730778;17416372;17425334;17459242;17468934;17490871;17512904;17526550;17554369;17596138;17636193;17704536;17879163;17929131;17949711;18006840;18042364;18064631;18083324;18268355;18276110;18313373;18323857;18332212;18334936;18340378;18343220;18348696;18451110;18451144;18474427;18499669;18577581;18624398;18633626;18690341;18713862;18716775;1875953;18776591;18801363;18810851;18824166;18829569;18957516;18958156;19020673;19031824;19037100;19056867;19094228;19160003;19161998;19212764;19224684;19251642;19342448;19345424;19391127;19404402;19417080;19460753;19471022;19541353;19542224;19553700;19564406;19581300;1959621;19617627;19701604;19701759;19730683;19738201;19760097;19821053;19834535;19847669;19880379;19893244;19893454;19903114;19913121;19914350;19935699;20007695;20029029;20043904;20097172;20097751;2012601;20145126;20161770;20201928;20210243;20232238;20357207;20359090;20364278;20403349;20419094;20452482;20463177;20470202;20489157;20495339;20505078;20506163;20530259;20552237;20600851;20628086;20628340;20628624;20638438;20643357;20670094;20671107;20672308;20672350;20673868;20686611;20708078;20725648;20811396;20814177;20819642;20851879;20939933;21036168;21036738;21078624;21098633;21131589;21138686;21139048;21148425;21150319;21160032;21178109;21190414;21224775;21311138;21325030;21330459;21347378;2138612;21429937;21472136;21508391;21573010;21630266;21691075;21768108;21824169;21840989;21861843;21876142;21890473;21924268;21942715;21961600;21969082;21980357;21988832;22009740;22048274;22219202;22241990;2229073;22319020;22339947;22351755;22378065;22496919;22514602;22523280;22531343;22586326;22641031;22644514;22674303;22699679;22705941;22716248;22782528;22837202;22848537;22896658;22918248;22919069;22936677;23029023;23056244;23098431;23116545;23142796;23170788;23201264;23201304;23202727;23217101;23238252;23251222;23288153;23315067;23341464;23485472;23509360;23593224;23612019;23622001;23643164;23653350;23653354;23684510;23740248;23750785;23763354;23765377;23791940;23811340;23872359;23884219;23895273;23908593;23912459;23921871;23966470;23998545;24022915;24030464;24040336;24070235;24081675;24097068;24122451;2414772;24247799;24375478;24503541;24627488;24743511;24753259;2531657;2745554;2822387;2867902;2989004;2992573;2992939;3003095;3021206;3024962;3031656;3375063;3478690;3593230;3770189;3770201;3900070;3943369;3988746;3997552;3997886;4019516;444675;6092370;6200322;6304699;6462919;6630202;6688418;6693419;6981115;7050098;7493623;7499434;7500359;7519849;7559467;7583666;7690138;7963647;7989369;8063866;8120056;8120888;8168508;8173552;8308892;8360181;8449034;8468356;8548820;8599839;8663002;8756760;8798654;8905624;8952048;8997243;8997639;9016396;9117345;9169408;9211865;9334230;9339851;9361795;9443108;9501082;9514732;9626063;9636140;9651579;9733622;9751722;9837825 2335 H0Y4K8;H0Y7Z1;P02751;Q6MZF4;Q6MZM7;Q6N084;Q9UQS6 AB191261;AB209287;AB209840;ABBA01062789;ABBA01062790;ABBA01062791;ABBA01062792;AC012462;AC073284;AF130095;AF312399;AI033037;AJ276395;AJ320525;AJ320526;AJ320527;AJ535086;AJ849445;AK026737;AK094153;AK297733;AK300216;AK300246;AK300458;AK316350;AL832202;AL832771;AMYH02005746;AMYH02005747;BC005858;BC016875;BC078656;BC100030;BC117176;BC143754;BC143763;BQ005645;BT006856;BX537590;BX538017;BX538018;BX538045;BX640608;BX640638;BX640731;BX640802;BX640803;BX640875;BX640920;BX640999;BX641150;BX649182;CH471063;CR749281;CR749316;CR749317;CR749666;CR936623;EF550130;EF550131;EF550132;EF550133;EF550134;EF550135;M10905;M12549;M14059;M14060;M15801;M18179;M27589;M27590;NG_012196;NM_002026;NM_054034;NM_212474;NM_212476;NM_212478;NM_212482;U41724;U41850;U42404;U42455;U42456;U42457;U42458;U42592;U42593;U42594;U60067;U60068;X02761;X07717;X07718;XM_005246397;XM_005246398;XM_005246399;XM_005246400;XM_005246401;XM_005246402;XM_005246403;XM_005246404;XM_005246405;XM_005246406;XM_005246407;XM_005246408;XM_005246409;XM_005246410;XM_005246411;XM_005246412;XM_005246413;XM_005246414;XM_005246415;XM_005246416;XM_005246417 AAA52461;AAA52462;AAA52463;AAA52464;AAA52465;AAA52466;AAA53376;AAA58483;AAD00013;AAD00014;AAD00015;AAD00017;AAD00018;AAD00019;AAD04751;AAD09448;AAD09449;AAD09450;AAD10853;AAD11500;AAG30571;AAG35520;AAH05858;AAH16875;AAI17177;AAI43755;AAI43764;AAP35502;AAX76513;AAY24063;ABR68534;ABR68535;ABR68536;ABR68537;ABR68538;ABR68539;ACE86693;ACE87377;BAD52437;BAD92524;BAD93077;BAG60083;BAG61984;BAG62013;BAG62178;BAH14721;CAA26536;CAB52436;CAB52437;CAC20427;CAC86914;CAC86915;CAC86916;CAD59389;CAD91166;CAD97791;CAD97964;CAD97965;CAD97984;CAE45714;CAE45786;CAE45847;CAE45885;CAE45932;CAE45958;CAE46002;CAE46200;CAH18136;CAH18171;CAH18172;CAH18457;CAH60958;CAI56766;EAW70530;EAW70531;EAW70532;EAW70533;EAW70534;EAW70535;EAW70536;EAW70537;EAW70538;EAW70539;EAW70540;EAW70541;EAW70542;EAW70543;EAW70544;EAW70545;EAW70546;EAW70547;EAW70548;NP_002017;NP_473375;NP_997639;NP_997641;NP_997643;NP_997647;P02751;XP_005246454;XP_005246455;XP_005246456;XP_005246457;XP_005246458;XP_005246459;XP_005246460;XP_005246461;XP_005246462;XP_005246463;XP_005246464;XP_005246465;XP_005246466;XP_005246467;XP_005246468;XP_005246469;XP_005246470;XP_005246471;XP_005246472;XP_005246473;XP_005246474 Hs.203717 1335951;1336446;1338448;1340227;1650831;1674654;1697460;1698690;1704552;1741491;1791572;2139816;2149747;2156569;2178090;2185345;2190595;5015619;5015861;5120540;5124732;7185938 D10S16;D11S3114;D1S249;D1S2782;D1S2872;D1S2891;D2S2635;FN1;GDB:181245;GDB:344700;PMC115222P2;RH102231;RH102905;RH47963;RH78451;RH98726;SHGC-11640;SHGC-33209;SHGC-57713;SHGC-83082;WIAF-2175 CIG;DKFZp686F10164;DKFZp686H0342;DKFZp686I1370;DKFZp686O13149;ED-B;FINC;FN;FNZ;GFND;GFND2;LETS;MSF OTTHUMP00000164053;OTTHUMP00000164054;OTTHUMP00000164055;OTTHUMP00000164056;OTTHUMP00000206760;OTTHUMP00000206762;OTTHUMP00000206763;OTTHUMP00000206765;OTTHUMP00000206766;OTTHUMP00000206767;cold-insoluble globulin;fibronectin;migration-stimulating factor APPROVED protein-coding ENSG00000115414 HGNC:3778 00626 135600;601894;614101 REVIEWED 1603304 FNDC8 fibronectin type III domain containing 8 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH C60 fullerene (ortholog) 17 17 17 q12 30358824 30367943 + 33448598 33457751 + 35121579 35130732 + 6480464;8554872 12477932 54752 Q8TC99 ABBA01011226;AC022916;AK225743;AK313775;AL133054;AMYH02033343;AMYH02033344;BC024002;BI829497;CH471147;HC006912;NM_017559;XM_005257993 AAH24002;ACE86521;ACE87200;BAG36513;CAB61380;CBH19261;EAW80168;NP_060029;Q8TC99;XP_005258050 Hs.120369 DKFZp434H2215 OTTHUMP00000163856;fibronectin type III domain-containing protein 8 protein-coding ENSG00000073598 HGNC:25286 13191 VALIDATED 1606476 FNIP1 folliculin interacting protein 1 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; positive regulation of GTPase activity; positive regulation of peptidyl-serine phosphorylation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 5-aza-2'-deoxycytidine; arsenite(3-); benzo[a]pyrene diol epoxide I 5 5 5 q23.3 127107692 127262904 - 130977407 131132756 - 131641714 131797063 - 6480464;8554872 11853319;12477932;17028174;18663353;18804346;19914239;20562859;21890473;22190034;22709692;23000965 96459 E9PCH4;J3KNG8;Q8TF40 AB075841;ABBA01068821;AC005593;AC008695;AK126675;AK292473;AL832008;AL834127;AMYH02012203;AMYH02012204;AMYH02012205;BC001956;CH471062;CR749426;CR936723;DQ145719;KC877096;NM_001008738;NM_133372 AAH01956;AAI56496;AAI72496;AAZ65854;BAB85547;BAF85162;BAG54356;CAD91145;CAH18264;EAW62364;NP_001008738;NP_588613;Q8TF40 Hs.591273 1688807;1696512;1697448;1716963;1729115;2131209;2132793;2181047 G49476;RH102225;RH121862;RH91240;SHGC-83150;STS-N34482;WI-12703;WI-17870 DKFZp686E18167;DKFZp781P0215;KIAA1961;MGC667 OTTHUMP00000222531;OTTHUMP00000222533;OTTHUMP00000222534;OTTHUMP00000222535;folliculin-interacting protein 1 protein-coding ENSG00000217128 HGNC:29418 17233 610594 VALIDATED 1354156 FOLH2 folate hydrolase 2 q14 8417812;9691167 2344 AP003122;NG_003258;U93598;U93599 FOLHP;PSM pseudo HGNC:3789 1350008 FNTAP1 farnesyltransferase, CAAX box, alpha pseudogene 1 11 11 11 q14.2 83215855 83217502 + 85906173 85907820 + 86195131 86196778 + 12956414;8276393 283226 ABBA01017327;AMYH02025228;AP003097;NG_005139 1681179;1689075 RH27289;RH68982 FNTAL1 APPROVED pseudo HGNC:3783 INFERRED 1347225 FNTBL1 farnesyltransferase, CAAX box, beta-like 1 8276393 2343 HGNC:3786 736901 FNTB farnesyltransferase, CAAX box, beta ENCODES a protein that exhibits protein farnesyltransferase activity; zinc ion binding; INVOLVED IN protein farnesylation; FOUND IN microtubule associated complex; protein farnesyltransferase complex; INTERACTS WITH 2-methylcholine; atrazine; benzo[a]pyrene 14 14 14 q23.3 45508091 45583963 + 65453507 65529370 + 64986789 65062652 + 1580863;6480464 10676968;10747914;10852915;11598000;11687658;11751396;12036349;12374986;12477932;12825937;14702039;15170324;15451670;15489334;15592455;16344560;16893176;17353931;19228685;19841875;19862010;21890473;21906983;2217184;22863883;22882915;22992747;23000965;23222517;23602568;23643986;23720494;8125298;8175923;8276393;8494894;8599089;8830800;8910345;9657673 2342 AAB26815;P49356 ABBA01018375;ABBA01018376;ABBA01018377;ABBA01018378;AK093298;AK225917;AK295972;AK315714;AL139022;AMYH02029365;AMYH02029366;AMYH02029367;AMYH02029368;AU122768;BC013574;BC020232;BM990350;BX248269;CH471061;L00635;L10414;NM_002028 AAA35854;AAA86286;AAB26815;AAH20232;ABM83054;ABM86247;BAG38073;BAG52684;BAG58748;CAD62597;EAW80897;NP_002019;P49356 Hs.325531 1667283;2108103;2126618;2154883;2176004 A003A45;FNTB_8353;RH48540;WI-18777;WI-9215 FPTB;MGC31935 CAAX farnesyltransferase subunit beta;FTase-beta;OTTHUMP00000183467;farnesyltransferase beta subunit;protein farnesyltransferase subunit beta;ras proteins prenyltransferase subunit beta protein-coding ENSG00000125954;ENSG00000257365 HGNC:3785 00608 134636 VALIDATED 1345317 FOLR2L folate receptor 2 (fetal) like 2351 HGNC:3794 2881162 FOLR3P1 folate receptor 3 (gamma) pseudogene 1 11 11 11 q13.4 69185061 69190663 + 71883484 71889086 + 72172440 72178042 + 100288543 ABBA01017541;AMYH02025075;AP000812;NG_022959 1748867;2129160 D11S4433;SHGC-110531 pseudo HGNC:38074 INFERRED 1318329 FOLR2 folate receptor 2 (fetal) The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.3-q13.5 69229223 69234398 + 71927819 71932994 + 72216775 72221950 + 1580863;1540379;6480464;6907045;7242557 22108709;8445646 10446858;12477932;12543860;12809644;1330883;15028279;16341674;16368877;17035141;19048631;19161160;19493349;19913121;19951991;20424473;20628086;20634891;20683905;2166548;22094710;22211358;22350599;23383108;23439585;23480364;24206618;2561247;2605182;4066659;7578066;7698003;8106441;8110752;8125298;8889548;9398177 2350 E7EU04;F5GXV3;F5GZ45;F5H3Z4;F5H4Z6;F5H5L8;J3KQP4;J3KR13;P14207 ABBA01017539;AK222539;AK222643;AMYH02025075;AP000593;BC027894;BC058036;BC115366;BM691283;BM849995;BY797003;CD014063;CD692073;CH471076;KF455414;NM_000803;NM_001113534;NM_001113535;NM_001113536;U02714;X69516;XM_005273856 AAA17370;AAH27894;AAH58036;AAI15367;ACE86481;ACE87062;ACE87162;ACE87743;BAD96259;BAD96363;CAA49267;EAW74853;NP_000794;NP_001107006;NP_001107007;NP_001107008;P14207;XP_005273913 Hs.433159 2145152;2147232 D11S1142;D11S4329 BETA-HFR;FBP;FBP/PL-1;FR-BETA;FR-P3 OTTHUMP00000197257;OTTHUMP00000237147;OTTHUMP00000237148;OTTHUMP00000237150;OTTHUMP00000237151;OTTHUMP00000237152;OTTHUMP00000237153;OTTHUMP00000237154;folate receptor beta;folate receptor, beta;folate receptor, fetal/placental;folate-binding protein, fetal/placental;placental folate-binding protein APPROVED protein-coding ENSG00000165457 HGNC:3793 00637 136425 REVIEWED 1601813 FOLH1B folate hydrolase 1B ENCODES a protein that exhibits dipeptidase activity (inferred); metal ion binding (inferred); metallopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol 11 11 11 q14.3 85199516 85237920 - 89370675 89431886 + 89638564 89698722 + 6480464;8554872 14716746;17160644;19243386;19678840;8417812;9691167;9838072 219595 Q9HBA9 ABBA01011516;ABBA01011517;AF261715;AMYH02025270;AP003122;AP003400;AY544126;NM_153696;U93598;U93599;XM_006718776 AAG29102;AAI56241;AAI57014;AAT11157;NP_710163;Q9HBA9;XP_006718839 Hs.645352 1683441;1685475;2109317 FOLH1_8354;RH69652;RH71396 FOLH2;FOLHP;GCP3;GCPIII;PSM;PSMA-LIKE;PSMAL N-acetylated-alpha-linked-acidic dipeptidase;NAALADase;cell growth-inhibiting gene 26 protein;folate hydrolase 2;folate hydrolase pseudogene;glutamate carboxypeptidase III;prostate-specific membrane antigen-like protein;putative N-acetylated-alpha-linked acidic dipeptidase;putative folate hydrolase 1B protein-coding HGNC:13636 07150 609020 PROVISIONAL 1349897 FOLR1P1 folate receptor 1 (adult) pseudogene 1 11 11 11 q13.4 69171536 69172159 + 71869877 71870500 + 72158833 72159456 + 1330883;1581364;2538429 390221 ABBA01017541;AMYH02025075;AP000812;M86438;NG_005088 FOLR1P;KB-1 APPROVED pseudo HGNC:3792 INFERRED 1346148 FOLR3 folate receptor 3 (gamma) This gene encodes a member of the folate receptor (FOLR) family, members of which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This gene includes two polymorphic variants; the shorter one has two base deletion in the CDS, resulting in a truncated polypeptide, compared to the longer one. Both protein products are constitutively secreted in hematopoietic tissues and are potential serum marker for certain hematopoietic malignancies. The longer protein has a 71% and 79% sequence homology with the FOLR1 and FOLR2 proteins, respectively. [provided by RefSeq, Jul 2008] 11 11 11 q13 69148708 69152871 + 71846771 71850934 + 72135725 72139890 + 1580863;6907045;6480464;8554872 12477932;14759258;19048631;19161160;20634891;20683905;22315970;7727426;8110752;9547271 2352 F5H2G8;J3KQY0;P41439 ABBA01017541;ABBA01017542;AF100161;AMYH02025075;AP000812;BC030285;BC126398;CH471076;KF459676;NG_032935;NM_000804;U08470;U08471;Z32564;Z32633 AAA18381;AAA18382;AAC98303;AAH30285;AAI41506;AAI48786;CAA83553;CAA83566;EAW74843;EAW74844;EAW74845;NP_000795;P41439 Hs.352 1651605;2129160;2217336 D11S4433;FOLR3_2766;RH36121 FR-G;FR-gamma;gamma-hFR OTTHUMP00000237135;folate receptor gamma APPROVED protein-coding ENSG00000110203 HGNC:3795 03918 602469 REVIEWED 2303851 FOLR4 folate receptor 4, delta (putative) ENCODES a protein that exhibits receptor activity; INVOLVED IN cell adhesion (ortholog); fusion of sperm to egg plasma membrane (ortholog); single fertilization (ortholog); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q21 91326626 91328681 + 94038803 94040858 + 94305637 94307692 + 6480464;6907045;8554872 11111049;24739963 390243 A6ND01;J3KNP7 ABBA01040033;AMYH02025373;AP002784;NM_001199206 A6ND01;NP_001186135 Hs.553758 Folbp3;JUNO FR-delta;OTTHUMP00000236827;OTTHUMP00000236947;folate receptor 4 (delta) homolog;folate receptor delta;probable folate receptor delta;sperm-egg fusion protein Juno APPROVED protein-coding ENSG00000183560 HGNC:32565 615737 VALIDATED 734060 FOLH1 folate hydrolase (prostate-specific membrane antigen) 1 This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010] 11 11 11 p11.2 49319516 49381546 - 49168187 49230222 - 49146631 49208670 - 737756;1580863;728645;6480464;7242426;7242559;8554872 12876198;16859665;20814827;9501243 10085079;11092759;11102961;12042430;12204797;12210356;12474535;12477932;12514270;12707400;12712410;12753319;12754519;12850144;12855225;12949815;12949938;13678295;14528023;14571414;14632302;14716746;15122597;15141017;15152093;15206943;15321811;15389976;15705868;15713827;15837926;15840561;16221666;16467855;16496414;16522921;16713605;17032155;17150306;17208363;17342744;17684227;17689503;17714508;17935484;18029348;18076021;18234225;18249021;18344976;18349274;18427977;18534872;18590621;18626508;18635682;18639471;18823966;18839017;18842806;18844933;18974153;19048631;19053759;19060911;19107881;19161160;19172696;19242540;19301871;19343734;19394322;19403271;19427504;19678840;19706844;19716160;19776634;19913121;19936946;20047525;20379614;20452657;20458436;20467438;20624932;20628086;20634891;20670952;20852008;20881960;21189143;21597034;21600799;21604260;21606347;21640619;21725290;21988832;22009216;22032578;22124883;22304713;22310383;22322627;22460809;22568207;23041906;23259322;23266799;23359458;23467813;23525278;23525279;23775497;23891752;23979608;23991415;24063417;24063616;24130224;24292502;24304465;24424840;24477651;24939622;7511053;7665226;7882349;8417812;8570628;8595888;9187245;9375657;9622670;9691167;9694964;9809977;9816319;9838072;9882712 2346 E9PI29;E9PKM3;E9PLV0;E9PMK6;Q04609 ABBA01060668;AC110742;AC118273;AF007544;AF107214;AF176574;AF254357;AF254358;AJ007318;AK295368;AK295470;AK300532;AK312366;AMYH02024763;AY101595;AY324625;BC025672;BC108719;CH471064;CS484648;CS487206;CS487327;DQ088979;EF488811;EF488812;JA362574;M99487;NG_029170;NM_001014986;NM_001193471;NM_001193472;NM_001193473;NM_004476;S76978;XM_005252839 AAA60209;AAB33750;AAC83972;AAD51121;AAF31167;AAF71357;AAF71358;AAH25672;AAI08720;AAM34479;AAP86290;AAZ66619;ABM82093;ABM85275;ABO93402;ABO93403;BAG35284;BAH12048;BAH12079;BAH13299;CAM36419;CAM55906;CAM55926;CCA94569;EAW67858;EAW67861;NP_001014986;NP_001180400;NP_001180401;NP_001180402;NP_004467;Q04609;XP_005252896 Hs.654487 1681488;1683441;1685475;1709468;1737915;2109317 D11S3521;FOLH1_8354;RH69652;RH71396;RH76660;SHGC-81785 FGCP;FOLH;GCP2;GCPII;NAALAD1;PSM;PSMA;mGCP N-acetylated alpha-linked acidic dipeptidase 1;N-acetylated-alpha-linked acidic dipeptidase I;NAALADase I;NAALAdase;OTTHUMP00000233840;OTTHUMP00000233841;OTTHUMP00000233843;OTTHUMP00000233844;cell growth-inhibiting gene 27 protein;cell growth-inhibiting protein 27;folate hydrolase;folate hydrolase 1;folylpoly-gamma-glutamate carboxypeptidase;glutamate carboxylase II;glutamate carboxypeptidase 2;glutamate carboxypeptidase II;membrane glutamate carboxypeptidase;prostate specific membrane antigen variant F;prostate-specific membrane antigen;pteroylpoly-gamma-glutamate carboxypeptidase APPROVED protein-coding ENSG00000086205 HGNC:3788 02961 600934 REVIEWED 1606173 FOPNL FGFR1OP N-terminal like INVOLVED IN cilium assembly; FOUND IN centriolar satellite; centrosome; nucleus; INTERACTS WITH valproic acid; zinc atom; zinc(0) 16 16 16 p13.11 15640063 15662935 - 15959576 15982510 - 15865719 15888602 - 6480464 12477932;14702039;15489334;15616553;17207965;18029348;19322201;19843651;20551181;21906983;24250222 123811 B3KPU9;I3L0K3;I3L0U4;I3L269;I3L2N4;I3L3N6;I3L4V2;I3NI25;Q96NB1 ABBA01048908;AC130651;AC243629;AK055715;AK056798;AL832498;AY507846;BC022321;CH471226;NM_144600;XM_005255091;XM_006725192 AAH22321;AAR98812;ADQ32274;BAB70994;BAG51811;EAW53934;EAW53935;NP_653201;Q96NB1;XP_005255148;XP_006725255 Hs.514179 1683307;1685494;1686810;5037552;5109281 D1S1425;D8S2279;RH65019;RH65060;RH93586 C16orf63;DKFZp686N1651;FLJ31153;FOR20;PHSECRG2 FGFR1OP N-terminal-like protein;FOP-related protein of 20 kDa;OTTHUMP00000160374;lisH domain-containing protein C16orf63;lisH domain-containing protein FOPNL;pluripotent embryonic stem cell-related protein APPROVED protein-coding ENSG00000133393 HGNC:26435 08096 PROVISIONAL 6769205 FOSL1P1 FOS-like antigen 1 pseudogene 1 4 4 4 126457680 126458492 + 129076544 129077356 + 128155389 128156201 + 100419062 ABBA01044812;AC114735;AMYH02010080;NG_025252 1769895;2127671;2143841;2153590 G01821;SHGC-51061;STS-H96643;STS-X16707 pseudo HGNC:44055 INFERRED 733116 FOSL2 FOS-like antigen 2 The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2014] 2 2 2 p23.3 28460891 28482629 + 28615704 28637516 + 28392837 28417312 + 1580863;2293779;2293758;6480464 15121240;9405228 10419887;10713367;10816578;11570575;11708771;12052862;12477932;14499865;14702039;15302935;15489334;15558021;17081983;17393299;18029348;18071306;18641127;19321746;19471022;19620306;19874574;19933934;20039427;20398657;20675274;20837772;2107490;21693764;21937452;21980299;22326952;22493372;22523431;22939629;23000965;23128233;23339184;23482931;8954781;9160889 2355 C9JCN8;P15408;Q9H5M2 ABBA01045230;AC104695;AK026959;AK055579;AK302622;AK315415;AMYH02003494;BC008899;BC022791;BC085197;BM023443;BQ574214;BX647822;CH471053;CR542262;NM_005253;X16706;XM_005264231;XM_006711976;XM_006711977 AAH22791;AAY14908;AAY14909;ABM84354;ABM87742;BAB15603;BAG37805;BAG51539;BAG63866;CAA34678;CAG47058;EAX00537;EAX00538;EAX00539;EAX00540;NP_005244;P15408;XP_005264288;XP_006712039;XP_006712040 Hs.220971;Hs.596972 1337114;2108105;2113496;2124694;2150400;2191479 BZ932217;D2S366;FOSL2_8355;MARC_23763-23764:1027442861:1;RH17490;STS-AA019641 FLJ23306;FRA-2;FRA2 OTTHUMP00000123509;OTTHUMP00000200848;fos-related antigen 2 APPROVED protein-coding ENSG00000075426 HGNC:3798 03343 601575 REVIEWED 1605725 FOXA3 forkhead box A3 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 43172554 43182091 + 46367518 46377055 + 45864260 45873797 + 2315085;6480464;6484113;6907045 11018767 10899756;10920385;11748221;12477932;12695546;15489334;15737987;15839736;18239190;19919681;19934400;20211142;21988832;22659429;23798556;24392884;7739897;8125298;8332212;8499623;9119385;9369482;9632808 3171 M0QZW5;P55318 ABBA01040954;AC008623;AF176113;AF176114;AK223473;AMYH02036210;AMYH02036211;BC016024;BT006720;CH471126;EU275778;L12141;NM_004497 AAA58477;AAD51980;AAH16024;AAP35366;ABX44664;BAD97193;EAW57394;EAW57395;NP_004488;P55318 Hs.36137 1775598;1795854;2172740 FOXA3_642;RH17892;SGC34695 FKHH3;HNF-3-gamma;HNF-3G;HNF3G;MGC10179;TCF-3G;TCF3G fork head-related protein FKH H3;forkhead box protein A3;hepatocyte nuclear factor 3, gamma;hepatocyte nuclear factor 3-gamma;transcription factor 3G APPROVED protein-coding ENSG00000170608 HGNC:5023 03802 602295 REVIEWED 1605726 FOXA2 forkhead box A2 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] 20 20 20 p11 22635086 22639544 - 22561642 22566101 - 22581004 22585463 - 1627574;2313246;2312358;2313245;2313242;2313243;6480464;6484113;6907045 10868949;11043867;11445544;12865419;18797817;19433262 10623575;10672453;10748198;10868948;10899756;11069927;11780052;11875061;12124776;12163409;12477932;12509444;12642491;12911579;14500912;14739090;15123725;15205324;15489334;15737987;16001449;16459311;16675598;16892178;17101796;17283222;17471492;17715393;18381283;18593902;18660816;18666263;18682709;18753309;18798232;19302415;19589781;19769745;19913121;19934400;20048076;20049900;20074681;20152958;20160041;20357092;20382118;20628086;20820189;20967225;21037926;21292830;21466784;22067325;22196886;22268124;22325233;22341411;22432472;22581228;22693459;22877565;22945641;23236435;23275033;23349771;23391216;24478438;24970044;9119385;9931457 3170 B0ZTD4;Q9Y261 AA469087;AB028021;ABBA01016168;ABBA01016169;ABBA01016170;AF147787;AF176110;AI268650;AI302734;AK301611;AL121722;AMYH02036827;AMYH02036828;BC006545;BC011780;BC019288;BM273279;BQ643619;CH471133;CS104988;CS104990;EU402966;NM_021784;NM_153675;XM_006723562 AAD41081;AAD51978;AAH06545;AAH11780;AAH19288;ABM83809;ABM87131;ACA06111;BAA78106;BAG63097;CAJ01277;CAJ01278;EAX10174;EAX10175;NP_068556;NP_710141;Q9Y261;XP_006723625 Hs.155651 1668616;1721431;2106799 Foxa2;G59567;RH48123 HNF-3-beta;HNF-3B;HNF3B;MGC19807;TCF-3B;TCF3B OTTHUMP00000030409;OTTHUMP00000030410;forkhead box protein A2;hepatic nuclear factor-3-beta;hepatocyte nuclear factor 3, beta;hepatocyte nuclear factor 3-beta;transcription factor 3B 1643383;1643385 BW311_H;BW312_H APPROVED protein-coding ENSG00000125798 HGNC:5022 02618 600288 REVIEWED 732196 FOSL1 FOS-like antigen 1 The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 q13 62983599 62991910 - 65659616 65667997 - 65892141 65900526 - 737712;1580863;2293758;2293756;2293757;2293777;1642465;2293787;6480464;6907045 10655067;11488404;15306117;15514944;15623567;17254320;9405228 10918580;11431474;11708771;11912197;12209953;12371906;12424143;12477932;12692267;13679379;15025563;15489334;15608675;15615716;15806162;15831677;16189514;16490785;17192200;17371847;17572495;17616677;17872495;17882273;18096084;18098284;18172271;18288638;18435914;19060904;19160107;19384981;19453261;19874574;19913121;19923172;20198886;20211142;20353950;20511396;20663135;2107490;21088499;21150319;21371080;21460858;21526963;21558934;21640141;21708480;21822309;21840727;21874050;21937452;21969367;21988832;22028113;22198213;22235402;22286759;22411068;22461694;22514348;22911824;23001043;23128233;23275563;23301044;23483055;23625206;23661758;24084233;8125298;8230424;8276409;8938448;9016559;9160889;9267807;9458721;9858769 8061 B4DDQ7;E9PKL5;E9PPX2;E9PQT6;P15407 AA120824;ABBA01024097;AJ297411;AK222902;AK293297;AK299050;AK313718;AMYH02024966;AP006287;BC016648;BM764259;BM846271;BP222547;BQ937004;CB123614;CH471076;CR542257;CR542278;NM_001300844;NM_001300855;NM_001300856;NM_001300857;NM_005438;NR_125339;X16707;XM_005274311 AAH16648;ABM81980;ABM83629;ABM84258;ABM85159;ABM87647;ABW03920;BAD96622;BAG36461;BAG56818;BAG61123;CAA34679;CAC50237;CAG47053;CAG47074;EAW74469;NP_001287773;NP_001287784;NP_001287785;NP_001287786;NP_005429;P15407;XP_005274368 Hs.283565 1684580;1699372;1771172;2110411;2127466;2134990;2143841;2153590 D11S4907;FOSL1;FOSL1_8776;G33132;RH103273;RH80069;STS-H96643;STS-X16707 FRA;FRA1;fra-1 FOS-like antigen-1;OTTHUMP00000234038;OTTHUMP00000234039;OTTHUMP00000234040;fos-related antigen 1 1643405 BMD9_H APPROVED protein-coding ENSG00000175592 HGNC:13718 00643 136515 REVIEWED 1313112 FOXB1 forkhead box B1 ENCODES a protein that exhibits sequence-specific DNA binding (ortholog); INVOLVED IN axon target recognition (ortholog); cell migration in diencephalon (ortholog); epithelial cell differentiation involved in mammary gland alveolus development (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH arsenite(3-); fonofos; nickel atom 15 15 15 q22.2 37184381 37186102 + 60296421 60298142 + 60004222 60005943 + 1580863;6480464 12477932;16344560;21988832 27023 Q99853 ABBA01038954;AC009654;AF055080;AF071554;AK290944;AK314075;AMYH02030550;BC113710;CH471082;DA685771;NM_012182;U87393 AAB47564;AAC09344;AAC62493;AAI13711;BAF83633;EAW77581;NP_036314;Q99853 Hs.734475 FKH5;HFKH-5 forkhead box protein B1;transcription factor FKH-5 protein-coding HGNC:3799 07017 VALIDATED 1605769 FOXB2 forkhead box B2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene (ortholog) 9 9 9 q21.2 50211724 50213022 + 79634571 79635869 + 77019655 77020953 + 6480464;8554872 15164053 442425 Q5VYV0 ABBA01033917;ABBA01033918;AL353637;AMYH02021030;NM_001013735 NP_001013757;Q5VYV0 Hs.553843 bA159H20.4 OTTHUMP00000021510;forkhead box protein B2 protein-coding ENSG00000204612 HGNC:23315 18473 VALIDATED 1346305 FOLR1 folate receptor 1 (adult) The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009] 11 11 11 q13.3-q14.1 69202176 69208941 + 71900602 71907367 + 72189558 72196323 + 1580863;6480464;6907045;7240710;7242557;8554872;8699517 22108709 10025672;10633085;11925593;12477932;12516786;12612090;12839949;1330883;14517339;14972645;15340044;15489334;15754024;1581364;16128986;16453285;16475900;16602701;17035141;1717147;17473184;17487842;17554378;17912458;18181001;1840502;18588513;18988749;19048631;19074442;19093297;19159907;19161160;19167051;19199708;19324355;19336370;19446551;19454358;19493312;19493349;19581412;19585555;19617914;19732866;19913121;19952865;20036773;20037791;20360068;20379614;20424473;20628086;20634891;20683905;20817090;20857335;21215055;21215165;21215723;21572402;21647742;2166548;21938430;21963094;21987572;21988832;22089756;22265591;22304562;22586289;22729036;22939629;22984810;23023342;23144806;23243496;23332132;23357463;23518909;23528302;23851396;24028341;24206618;24771263;2527252;2538429;2768245;3194438;3476960;7578066;7632694;8033114;8061055;8125298;8889548;9063895;9545095 2348 P15328;Q9NP04 ABBA01017539;AF000381;AK223527;AMYH02025075;AP000812;BC002947;BT007158;CA450368;CH471076;CR542019;J05013;M25317;M28099;M35069;NG_015863;NM_000802;NM_016724;NM_016725;NM_016729;S73474;S73490;U20391;U78793;U78794;X62753 AAA35822;AAA35823;AAA35824;AAA74896;AAB05827;AAB31700;AAB31702;AAB39751;AAB39752;AAB81938;AAH02947;AAP35822;ABM83670;ABM86943;BAD97247;CAA44610;CAG46816;EAW74848;EAW74849;EAW74850;EAW74851;EAW74852;NP_000793;NP_057936;NP_057937;NP_057941;P15328 Hs.73769 1682481;2125036;2131718;2217334;5091313 FOLR1;FOLR1_2994;RH78123;RH80816;SHGC-6023 FBP;FOLR;FR-alpha;MOv18 KB cells FBP;OTTHUMP00000237140;OTTHUMP00000237141;OTTHUMP00000237142;OTTHUMP00000237143;adult folate-binding protein;folate binding protein;folate receptor alpha;folate receptor, adult;ovarian tumor-associated antigen MOv18 APPROVED protein-coding ENSG00000110195 HGNC:3791 00638 136430;613068 REVIEWED 9068685 FOXC2-AS1 FOXC2 antisense RNA 1 q24.1 103752587 AC009108;AW271272;NR_125795 Hs.609366 ncrna HGNC:50665 VALIDATED 1353830 FOXC1 forkhead box C1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008] 6 6 6 p25 2838909 2842360 + 1610681 1614132 + 1610446 1613897 + 1582564;1580863;6480464;7240710;8554872;8662370;8699517;8662363;8662367;8662364;8662365 10767326;16952980;20056007;20338046;21424368;9635428 10474162;10713890;11007653;11170889;11179011;11237714;11320352;11562355;11740218;11748221;11782474;11821690;12234674;12408963;12454026;12477932;12592227;12614756;14506133;14574404;14578375;14702039;15277473;15299087;15477465;15684392;16449236;16492674;16638984;16936096;17000708;17157569;17197537;17486624;17558846;17653043;17993506;18029348;18484311;18498376;18564921;18616618;18676636;18676680;18708620;19170196;19279310;19322201;19471022;19513095;19625176;19626132;19668217;19692168;19793056;19913121;20406990;20453000;20628086;20881294;21031026;21139048;21278591;21353197;21400511;21465172;21693764;21837767;22020760;22120723;22190034;22249250;22493429;22569110;22645147;22736943;22903608;22911555;22991501;23242609;23264086;23444221;23541832;23667531;23687430;7957066;8499623;8825632;8940278;9326342;9382099;9620769;9792859 2296 A3KPE3;Q12948;W6CJ52 ABBA01048644;AF048693;AF078096;AK021858;AL034344;AMYH02012969;AY228703;AY228704;AY228705;BC134421;CH471087;GQ282997;KF855955;L12143;NG_009368;NM_001453;U13221 AAA92038;AAC18081;AAC72915;AAI34422;AAI69306;AAI69307;AAK13575;AAP15181;ACS83750;AHI85954;EAW55074;NP_001444;Q12948 Hs.348883 1673201;1690236;1697648;2178124;5492379 RH102339;RH80486;STS-N22552;STS-N25875;UniSTS:480885 ARA;FKHL7;FREAC-3;FREAC3;IGDA;IHG1;IRID1;RIEG3 OTTHUMP00000017802;forkhead box C1 protein;forkhead box protein C1;forkhead, drosophila, homolog-like 7;forkhead-related activator 3;forkhead-related protein FKHL7;forkhead-related transcription factor 3;forkhead/winged helix-like transcription factor 7;myeloid factor-delta APPROVED protein-coding ENSG00000054598 HGNC:3800 03054 601090;601631;602482 REVIEWED 735729 FOS FBJ murine osteosarcoma viral oncogene homolog The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. In some cases, expression of the FOS gene has also been associated with apoptotic cell death. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 55783567 55787023 + 75745477 75748937 + 75278778 75282234 + 1580863;704404;2293757;2293779;2293780;2293777;6480464;6484113;6907045;7242178;7242184;7242185;7242198;7242276;7242278 11880336;14674993;15121240;15514944;15623567;15632024;16049073;16696897;19095962;22634839 10027715;10330159;10388555;10488148;10497212;10523647;10567391;10581001;10764760;10777532;10799874;10847592;10918580;11053448;11090181;11134330;11260070;11274169;11278640;11397794;11397816;11431474;11641401;11782371;11846562;11891317;11909859;11983170;12052862;12082260;12127989;12147741;12183893;12193410;12419805;12445807;12446585;12477932;12508121;12547826;12592382;12600988;12687275;12692226;12705898;12788789;12949493;12972619;1406655;14511403;14517309;14522952;14629301;14702039;14727154;14741347;14966901;15175153;15188457;15258149;15262961;15276183;15319445;1545828;15489334;15507668;15530430;15548518;15588513;15610731;15654976;15708845;15718494;15767669;15835820;15844599;15867431;1589769;15921770;15926923;15950906;15994313;16001969;16023595;16038047;16055710;16123044;16219292;16236267;16243842;1631061;16452503;16511568;16552729;1658710;16637060;16690925;16714286;16828227;16928824;17018293;17080554;17160021;17182779;17203973;17209045;17217916;17226766;17235455;17317669;17440114;17495958;17549045;17606925;17636030;17639289;17681951;17703412;17709345;17888430;17915561;17926144;18029348;18032824;18042260;18097055;18158562;18206243;18252863;1827203;1828107;18283312;18305042;18309110;18316037;18368600;18405916;18422165;18425349;18467434;18500346;18511550;18597608;18599327;18619508;18621151;18641127;18644870;18653705;18676680;18725194;18802113;18826606;18838675;18854825;18923650;18957410;18986987;19009649;19013323;19015316;19022561;19028685;1903538;19064921;19105933;19135542;19151755;19170196;19199093;19215067;19258923;19269029;19299513;19329434;19384981;19453261;19471022;19495976;19513521;19557575;19581295;19597476;19625176;19692168;19714312;19795350;19859790;19874574;19913121;19921846;19937979;19959471;20012528;20042607;20089855;20195357;20203690;20209053;20336670;20398657;20410304;20459032;20463008;20468064;20493519;20503287;20531301;20619839;20628086;20628624;20682178;20726226;20869948;20936779;20976196;21034562;21106746;21163924;21303932;21340718;21385848;21423810;21496113;21496208;21607373;21655091;21675959;21693764;21732357;21757709;21822357;21829441;21900206;21920361;21937452;21975339;21978922;21988832;22076613;22077140;22105363;22108803;22308434;22354777;22474330;22528769;22534624;22537850;22546605;22699663;22719067;22772468;23001723;23121125;23128233;23135283;23209736;23301044;23331079;23396363;23400877;23418787;23494858;23562910;23578467;23593403;23595228;23602568;23614275;23625009;23625206;23660496;23661758;23667255;23744317;23760290;23844083;23919306;2414012;24220339;24322891;24378831;24386331;24479681;24886961;2511004;2516827;3027573;3555978;3817017;6574479;7540136;7623830;7642615;7665092;7685215;7713192;7816143;7816602;7957556;7962462;7994752;8065335;8108109;8151786;8248197;8380166;8397339;8440710;8475068;8480425;8524278;8557686;8570175;8621941;8628277;8710853;8737385;8763994;8816797;8816798;8904195;8971979;9057648;9121455;9129988;9130707;9160889;9207128;9334186;9346889;9443941;9468519;9488446;9510247;9545246;9642216;9671405;9681824;9685505;9732876;9792677;9872330;9888853;9918847 2353 G3V289;G3V2V7;G3V5J9;G3V5N7;G3V5N9;H0YJM3;P01100;Q6FG41 AB022275;AB022276;ABBA01030704;AF111167;AK097379;AK290907;AK291326;AK298659;AMYH02029536;AY212879;BC004490;BX647104;CH471061;CR541785;CR542267;HI574162;K00650;NG_029673;NM_005252;S65138;V01512 AAA52471;AAB20306;AAC98315;AAH04490;AAO21129;ABM84370;ABM87749;BAA87920;BAA87921;BAF83596;BAF84015;BAG53458;BAG60827;CAA24756;CAG46584;CAG47063;CBX47570;EAW81227;EAW81228;EAW81229;NP_005243;P01100 Hs.25647 1728997;1742673;1742675;1768928;1791806;1792052;1792210;1792472;1794990;1795016;1851699;2113548;2174480;5022030;5492275 BP240034A10G4;BP250015A10G9;FOS_V40;Fos;G06585;GDB:199085;GDB:201707;PMC126057P3;PMC135937P1;PMC139817P1;PMC151710P2;PMC86910P1;PMC87308P1;STS-V01512;WI-19801 AP-1;C-FOS;p55 FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS);G0/G1 switch regulatory protein 7;OTTHUMP00000246818;OTTHUMP00000246821;OTTHUMP00000246822;OTTHUMP00000246823;activator protein 1;cellular oncogene c-fos;cellular oncogene fos;proto-oncogene c-Fos;v-fos FBJ murine osteosarcoma viral oncogene homolog APPROVED protein-coding ENSG00000170345 HGNC:3796 01275 164810 REVIEWED 1317837 FOSB FBJ murine osteosarcoma viral oncogene homolog B The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 42777353 42784537 + 45971253 45978437 + 45467995 45475179 + 1580863;6480464 10220381;10942775;12371906;12477932;12602926;12618758;1301997;14741347;15025563;15489334;15926923;16344560;1702972;17495958;17601350;18207134;18490653;18491952;18802113;18977241;1900040;1903195;19133651;19381435;19453261;19795327;20398657;20571966;20813842;20826776;21543584;21616539;21937452;23614275;23810250;23824909;23933656;24374978;8125298;8144043;8706134;8985116 2354 K7EJ89;K7EKA0;K7EKC1;K7ERZ8;P53539 ABBA01040931;AC138128;AK225070;AK292720;AMYH02036200;AY898963;BC036724;BC040197;BC063042;BC127825;BX538117;CH471126;CR542101;D16366;DA589470;DB275824;EU178109;EU178110;EU178111;EU178112;EU178113;EU178114;EU178115;EU178116;HI574258;L49169;NG_015839;NG_029675;NM_001114171;NM_006732;XM_005258691 AAB53946;AAH36724;AAH40197;AAI27826;AAW65374;ABW34730;ABW34731;ABW34732;ABW34733;ABW34734;ABW34735;ABW34736;ABW34737;ACE86760;ACE87447;BAF85409;CAG46898;CBX47618;EAW57351;EAW57352;NP_001107643;NP_006723;P53539;XP_005258748 Hs.590958 2127222;2131266;2161313 D19S1096;RH46539;WI-20020 AP-1;DKFZp686C0818;G0S3;GOS3;GOSB;MGC42291 G0/G1 switch regulatory protein 3;activator protein 1;oncogene FOS-B APPROVED protein-coding ENSG00000125740 HGNC:3797 01270 164772 REVIEWED 1347315 FOXC2 forkhead box C2 (MFH-1, mesenchyme forkhead 1) This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008] 16 16 16 q24.1 70901820 70903503 + 86600857 86602539 + 86567251 86568933 + 1582564;1601218;1601216;1601219;1601217;1601220;1580863;6480464;7240710;8554872;8699517 11371511;12453913;12540636;15523639;15601967;16952980 10417285;10669593;11076863;11078474;11499682;11551504;11562355;11694548;12114478;12383817;12477932;12485195;12716768;14530861;15198934;15489334;15597109;15919786;15926113;16081467;16456100;16786163;17081983;17342473;17372167;17537911;18197197;18564920;18660489;18973153;18974842;18986489;19013876;19056482;19185813;19336002;19339011;19394045;19453261;19471022;19548265;19760751;19876004;19935708;20060810;20201926;20218083;20301630;20450314;20460685;20535019;20540670;20552815;20634891;20803080;21270254;21457232;21464574;21640215;21693764;21918810;22178381;22216698;22349027;22374725;22410781;22493429;23378344;23614500;23878394;23919841;24276887;24278289;8674414;9169153 2303 Q99958 ABBA01034303;ABBA01034304;AC009108;AMYH02032607;BC113437;BC113439;CH471114;GQ282998;NG_012025;NM_005251;Y08223 AAI11590;AAI13438;AAI13440;ACS83751;CAA69400;EAW95415;EAW95416;NP_005242;Q99958 Hs.436448 5492381;5492881 UniSTS:480884;UniSTS:483146 FKHL14;LD;MFH-1;MFH1 MFH-1,mesenchyme forkhead 1;OTTHUMP00000175007;forkhead box protein C2;forkhead, Drosophila, homolog-like 14;forkhead-related protein FKHL14;mesenchyme fork head protein 1;transcription factor FKH-14 APPROVED protein-coding HGNC:3801 03869 153400;602402 REVIEWED 1605727 FOXA1 forkhead box A1 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. [provided by RefSeq, Jul 2008] 14 14 14 q12-q13 17923658 17928958 - 38058757 38064325 - 37589552 37595120 - 6480464;6484113 10899756;11076863;11355750;11864602;12234996;12441652;12477932;12509444;12750453;15489334;15489336;15737987;16009131;16087863;1612587;16239259;16331276;16344560;16381901;1672118;17373880;17616709;17671124;18039470;18178153;18358809;18538561;18688264;19127412;19129543;19183483;19261198;19322201;19371798;19445897;19470727;19471022;19486887;19549328;19846536;19866472;19897491;19917725;19919681;20018680;20043065;20048076;20132413;20160041;20211142;20501593;20503388;20610384;20628005;20646630;20736324;21130740;21151129;21233399;21401706;21503684;21572438;21693764;21701558;21878914;21882221;21900400;21915096;21934649;21984487;21988832;22067325;22115363;22138582;22238690;22313737;22383183;22391567;22476979;22577344;22590586;22596188;22879989;22986903;23001124;23183268;23269278;23355396;23443045;23510544;23539448;23625627;23817569;24024966;24093963;24452315;24457600;24531377;24596370;25016694;8034310;8652662;8889548;9119385;9931457 3169 G3V4B9;P55317 ABBA01061531;AF176112;AF303743;AK313785;AK316360;AL121790;AMYH02029038;BC033890;BM970983;BU860564;CH471078;DA705947;NG_033028;NM_004496;U39840 AAB06493;AAD51979;AAG40847;AAH33890;BAG36523;BAH14731;CAL37741;CAL38117;CAL38188;CAL38247;EAW65844;NP_004487;P55317 Hs.163484 1652885;2113872;2118731;2163606 HNF3A;RH70624;RH79152;SHGC-35681 HNF-3-alpha;HNF-3A;HNF3A;MGC33105;TCF-3A;TCF3A OTTHUMP00000178879;forkhead box protein A1;hepatocyte nuclear factor 3, alpha;hepatocyte nuclear factor 3-alpha;transcription factor 3A APPROVED protein-coding ENSG00000129514 HGNC:5021 03801 602294 REVIEWED 9068755 FOXCUT FOXC1 upstream transcript (non-protein coding) 6 6 p25.3 1605705 1607593 + 1604259 1607358 + 24889262;25031703 101927703 ABBA01048645;AL034344;AMYH02012969;AW002296;NR_125804;XR_241955;XR_249928;XR_251943;XR_425962;XR_427863;XR_431958 Hs.607964 LINC01379;TCONS_00011636 ncrna HGNC:50650 615976 VALIDATED 1343882 FOXD1 forkhead box D1 This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014] 5 5 5 q13.2 68637378 68639649 - 72742083 72744352 - 73446256 73448527 - 1580863;6480464 15492844;15716278;16585573;19626042;24099863;7957066;8702877;8825632 2297 Q16676 ABBA01061916;ABBA01061917;AC099522;AMYH02011561;AMYH02011562;CH471084;NM_004472;U13222;U59831;U59832 AAA92039;AAC50660;AAC50661;AAI60026;EAW95721;NP_004463;Q16676 Hs.519385 1678755;1797538;5493713 FOXD1_1155;RH98761;UniSTS:491151 FKHL8;FREAC4 FREAC-4;Forkhead, drosophila, homolog-like 8;forkhead box protein D1;forkhead-like 8;forkhead-related activator 4;forkhead-related protein FKHL8;forkhead-related transcription factor 4 APPROVED protein-coding ENSG00000251493 HGNC:3802 03055 601091 REVIEWED 1625815 FOXD4L2 forkhead box D4-like 2 9 p12 42717234 42720342 + 6480464 12234674;12421752;15233989;9847074 100036519 AC129778;NM_001099279 NP_001092749 Hs.712520 5124131 RH70565 OTTHUMP00000069678 protein-coding ENSG00000204828 HGNC:24813 611085 INFERRED 1347778 FOXD3 forkhead box D3 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008] 1 1 1 p31.3 62078382 62080449 + 63788730 63790797 + 63323059 63325126 + 1580863;6480464;7240710;8554872 11179011;11891324;16098053;16710414;19034670;20332228;21478267;22815627;22887036;23058321;23543055;23858437;24269992;24632201;8499623 27022 Q9UJU5 ABBA01074575;AF086235;AF197560;AL049636;AMYH02001152;CH471059;L12142;NG_012220;NM_012183 AAF05844;AAI72266;AAI72572;AAK13574;EAX06575;NP_036315;Q9UJU5 Hs.546573 1334633;1341142;5492635 D1S2742;D1S515;UniSTS:481861 AIS1;HFH2;VAMAS2 Genesis;HNF3/FH transcription factor genesis;OTTHUMP00000010713;forkhead box protein D3 APPROVED protein-coding ENSG00000187140 HGNC:3804 07018 607836;611539 REVIEWED 8661374 FOXD3-AS1 FOXD3 antisense RNA 1 (head to head) 1 1 p31.3 63786585 63788623 - 63320884 63322253 - 100996301 ABBA01074575;AL049636;AMYH02001152;HG492129;HG492130;HY065209;KF925349;KF925350;KF925351;KF925352;KF925353;KF925354;KJ493778;NR_121634;NR_121635;NR_121636;NR_121637;XR_425166;XR_426700;XR_431174 pasFOXD3 ncrna HGNC:40241 VALIDATED 2293114 FOXD4L5 forkhead box D4-like 5 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 5-fluorouracil (ortholog) 9 9 q21.11 70175707 70178815 - 65282101 65285209 - 6480464 12234674;15164053;18029348 653427 Q5VV16;Q8WTR0 AL512605;NM_001126334 NP_001119806;Q5VV16 Hs.714683 5124131 RH70565 bA15J10.2 FOXD4-like 5;OTTHUMP00000015368;forkhead box protein D4-like 5 protein-coding ENSG00000204779 HGNC:18522 VALIDATED 1346778 FOXD4 forkhead box D4 This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. Mutations in this gene are associated with a complex phenotype consisting of dilated cardiomyopathy, obsessive-compulsive disorders, and suicidality. [provided by RefSeq, Mar 2012] 9 9 p24.3 116231 118417 - 116231 118417 - 1580863;6480464;8554872 12234674;12421752;12477932;15164053;15233989;15489334;15492844;17273782;18029348;20650821;21482378;21948691;22876580;7957066;8825632;8889548;9325056 2298 Q12950;Q6VB86 ABBA01009603;AF343004;AF452724;AL449043;AMYH02019022;AY344640;BC089432;BC103886;BC136570;BC136571;CA313252;CF139066;NG_032165;NM_207305;U13223 AAA92040;AAH89432;AAI03887;AAI36571;AAI36572;AAL73341;AAN64909;AAQ76878;NP_997188;Q12950 Hs.584759 5124131;5493845 RH70565;UniSTS:495278 FKHL9;FOXD4A;FREAC-5;FREAC5;MGC105106 OTTHUMP00000022747;forkhead box protein D4;forkhead, Drosophila, homolog-like 9;forkhead-like 9;forkhead-related activator 5;forkhead-related protein FKHL9;forkhead-related transcription factor 5;myeloid factor-alpha APPROVED protein-coding ENSG00000170122 HGNC:3805 03056 601092 REVIEWED 1351590 FOXD4L1 forkhead box D4-like 1 This gene is a member of the forkhead/winged-helix (FOX) family of transcription factors with highly conserved FOX DNA-binding domains. Members of the FOX family of transcription factors are regulators of embryogenesis and may play a role in human cancer. This gene lies in a region of chromosome 2 that surrounds the site where two ancestral chromosomes fused to form human chromosome 2. This region is duplicated elsewhere in the human genome, primarily in subtelomeric and pericentromeric locations, thus mutiple copies of this gene have been found. [provided by RefSeq, Jul 2008] 2 2 q13 114256661 114258727 + 113499084 113501150 + 1580863;6480464 12421752;12477932;14702039;15233989;15815621;18029348;7957066 200350 B3KVK3;Q9NU39 AC245097;AF452723;AK122950;AK125398;AL078621;AY344639;BC136428;NM_012184 AAI36429;AAI48649;AAI53202;AAN64908;AAQ76877;BAG53815;BAG54193;NP_036316;Q9NU39 Hs.591554 5124131 RH70565 FOXD5;bA395L14.1 FOXD4-like 1;OTTHUMP00000162048;forkhead box D4 like 1;forkhead box protein D4-like 1 APPROVED protein-coding ENSG00000184492 HGNC:18521 17010 611084 REVIEWED 1312200 FOXD2 forkhead box D2 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 1 1 1 p34-p32 46187996 46192673 + 47901689 47906363 + 47436017 47440691 + 1580863;6480464 12621056;22041458;22306510;23251661;8889548;9403061 2306 O60548 ABBA01050816;ABBA01050817;AF042832;AL559120;AL607122;AMYH02000971;AMYH02000972;BM665076;CH471059;NM_004474 AAC15421;AAI69309;AAI69310;EAX06866;NP_004465;O60548 Hs.166188 1692570;1794482;1795856;5492769 AL033932;FOXD2_646;PMC316354P2;UniSTS:482414 FKHL17;FREAC-9;FREAC9 OTTHUMP00000009656;forkhead box protein D2;forkhead, drosophila, homolog-like 17;forkhead-like 17;forkhead-related activator 9;forkhead-related protein FKHL17;forkhead-related transcription factor 9 APPROVED protein-coding ENSG00000186564 HGNC:3803 03735 602211 REVIEWED 1604667 FOXD4L6 forkhead box D4-like 6 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 9 9 q21.11 69199480 69202204 - 41126251 41128975 - 6480464 12234674;12477932;18029348;22939624 653404 Q3SYB3 AF343006;AMYH02020843;BC103887;BC137365;BC137366;BX255923;NM_001085476 AAI03888;AAI37366;AAI37367;AAL73343;ABZ92214;NP_001078945;Q3SYB3 Hs.652377 5124131 RH70565 MGC119257 FOXD4-like 6;OTTHUMP00000069726;forkhead box protein D4-like 6 protein-coding HGNC:31986 VALIDATED 6779244 FOXD2-AS1 FOXD2 antisense RNA 1 (head to head) 1 1 1 p33 46184112 46186620 - 47897805 47900313 - 47432133 47434641 - 12477932 84793 ABBA01050817;AL607122;AMYH02000971;BC006113;BC022099;BC041637;NR_026878 Hs.127762 1692570 AL033932 APPROVED ncrna ENSG00000237424 HGNC:44256 VALIDATED 1602044 FOXD4L4 forkhead box D4-like 4 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 q21.11 70426623 70429731 - 65736314 65739422 + 6480464 12234674;12421752;15233989;18029348;9847074 349334 Q6VB85;Q8WTR0;Q8WXT5 AC129778;AF343005;AF343008;AMYH02020899;BX284632;NM_199244 AAI72340;AAL73342;AAL73345;NP_954714;Q8WXT5 Hs.712520 5124131 RH70565 FOXD4L2;FOXD4b;bA460E7.2 FOXD4-like 4;OTTHUMP00000015376;forkhead box D4-like 2;forkhead box protein D4-like 4;forkhead box protein D4b;myeloid factor-gamma;winged helix factor-1;winged helix transcription factor beta protein-coding ENSG00000204828 HGNC:23762 17013 611085 INFERRED 1348211 FOXF1 forkhead box F1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008] 16 16 16 q24 70844972 70848909 + 86544133 86548070 + 86510527 86514464 + 1580863;6480464;6484113;7240710;8554872;8699517 12477932;15489334;16344560;16448649;16772323;18564921;19500772;19822228;19851296;20145151;20198315;20233876;20549505;21271214;21315191;21964066;22961001;23034409;23103611;23322567;23407133;23504527;23505205;23563609;23864317;23943206;24121790;7957066;7959731;8626802;8825632;9722567;9769171 2294 Q12946 ABBA01034302;AC009108;AF085343;AK314167;AMYH02032607;BC089442;CA438612;CH471114;DB011539;NG_016273;NM_001451;U13219 AAC50399;AAC61576;AAH89442;ACE86822;ACE87508;BAG36851;EAW95424;NP_001442;Q12946 Hs.155591 1657542;1673628 RH70564;STS-U13219 ACDMPV;FKHL5;FREAC1;MGC105125 FREAC-1;Forkhead, drosophila, homolog-like 5;OTTHUMP00000175006;forkhead box protein F1;forkhead-related activator 1;forkhead-related protein FKHL5;forkhead-related transcription factor 1 APPROVED protein-coding HGNC:3809 03053 265380;601089 REVIEWED 1346258 FOXG1 forkhead box G1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and the telencephalon. q13 1580863;7240710 10938097;12477932;17260156;7599184;7959731 2291 P55316 BC040960;X74143;X78202 CAA52240;CAA55038;P55316 Hs.649934;Hs.653289 1746989;1788946;1795860;1850293;2110921;2174992;5122668 D14S103E;FOXG1B_455;Foxg1;SGC34532;SHGC-12931;UniSTS:225243;WI-19182 BF1;BF2;FKH2;FKHL1;FKHL2;FKHL3;FKHL4;FOXG1A;FOXG1B;FOXG1C;HBF-2;HBF-3;HBF-G2;HBF2;HFK1;HFK2;HFK3;KHL2;QIN protein-coding HGNC:3811 164874;613454 1353322 FOXG1C forkhead box G1C q11.2 1580863 12508121;7959731 2292 Q14488 X74144 CAA52241;Q14488 Hs.649934 FHKL3;FKHL3;HBF-3;HFK3 protein-coding HGNC:3813 1606108 FOXD4L3 forkhead box D4-like 3 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH calcitriol; testosterone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 q21.11 70917783 70920000 + 68302867 68305084 + 6480464 12421752;12477932;15233989;18029348 286380 Q6VB84 AL353608;AMYH02020918;AY344641;AY344642;NM_199135 AAI72338;AAI72341;AAQ76879;AAQ76880;NP_954586;Q6VB84;Q6VB85 Hs.449471 FOXD4L2;FOXD6;MGC119257 FOXD4-like 2;FOXD4-like 3;Forkhead box protein D4-like 3;OTTHUMP00000021417;forkhead box D4 like 3;forkhead box protein D4-like 2 protein-coding ENSG00000187559 HGNC:18523 17011 611086 VALIDATED 735499 FOXE1 forkhead box E1 (thyroid transcription factor 2) This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis. Mutations in this gene are associated with congenital hypothyroidism and cleft palate with thyroid dysgenesis. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma and hereditary sensory neuropathy type I. [provided by RefSeq, Jul 2008] 9 9 9 q22 71129774 71133234 + 100615537 100618997 + 97853255 97856715 + 704404;1580863;6480464;7240710;8554872;8699517 10403172;10748198;11580993;11762722;12165566;14611701;14654228;15140221;15320969;15367491;15494458;16327884;16481406;16584930;16882747;17318017;17717707;18978678;19192046;19198613;19730683;19779022;19845668;19930442;20094846;20157192;20200978;20350937;20453517;20544801;20572854;20583170;20634891;20672350;21177256;21311165;21367965;21462296;21730105;21896990;21981779;22177572;22493691;22521644;22736773;22753311;22882326;23251661;23327367;23408906;23512105;23715628;23894154;24105688;24127282;24489898;24563486;24646064;24744143;24756757;9052737;9169137;9214635;9697705 2304 O00358 ABBA01042927;AL499604;AMYH02021312;CH471105;NG_011979;NM_004473;U89995;X94553;Y13386 AAC51294;AAI52745;CAA64246;CAA73816;EAW58856;NP_004464;O00358 Hs.159234 1795858;5492443;5493783 FOXE1_316;UniSTS:481083;UniSTS:494815 FKHL15;FOXE2;HFKH4;HFKL5;TITF2;TTF-2;TTF2 HNF-3/fork head-like protein 5;OTTHUMP00000021756;forkhead box E2;forkhead box protein E1;forkhead box protein E2;forkhead, drosophila, homolog-like 15;forkhead-related protein FKHL15;thyroid transcription factor 2 APPROVED protein-coding ENSG00000178919 HGNC:3806 04014;06188 241850;602617 REVIEWED 1316815 FOXE3 forkhead box E3 This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009] 1 1 1 p32 46168009 46170038 + 47881744 47883724 + 47416072 47418052 + 1598956;1598957;1580863;6480464;7240710;8554872;8699517 11159941;16826526 10652278;16710414;19708017;20140963;20361012;20630806;20664696;20806047;21150893;22204637;22527307;24019743;8825632 2301 Q13461 ABBA01050817;ABBA01050818;AF275722;AL607122;AMYH02000971;NG_016192;NM_012186;U42990 AAB48856;AAF82793;AAI72358;NP_036318;Q13461 Hs.112968 1794482;5492797;5493791 PMC316354P2;UniSTS:482658;UniSTS:494838 ASMD;FKHL12;FREAC8 FREAC-8;OTTHUMP00000009657;forkhead box protein E3;forkhead, drosophila, homolog-like 12;forkhead-related protein FKHL12;forkhead-related transcription factor 8 APPROVED protein-coding ENSG00000186790 HGNC:3808 03058 107250;601094;610256 REVIEWED 1602262 FOXI2 forkhead box I2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; arsenite(3-) 10 10 10 q26.2 123207312 123211234 + 129535538 129539450 + 127737274 127741186 + 6480464 12477932;16289364 399823 Q6ZQN5 ABBA01009089;AK128865;AL391005;AMYH02024021;BC137296;BC137297;NM_207426 AAI37297;AAI37298;BAC87649;NP_997309;Q6ZQN5 Hs.449674 1685866 RH93036 FLJ46831 OTTHUMP00000211174;forkhead box protein I2;homolog of mouse Foxi2 protein-coding ENSG00000186766 HGNC:32448 13540 VALIDATED 737514 FOXG1 forkhead box G1 This locus encodes a member of the forked-head transcription factor family. The encoded protein, which functions as a repressor, may play a role in brain development. Mutations at this locus have been associated with Rett syndrome. [provided by RefSeq, Feb 2012] 14 14 14 q13 9101781 9104365 + 29236278 29239483 + 28767072 28770277 + 1580863;704404;6480464;7240710;8554872;8699517 10373304;10498272;10938097;11238932;11387330;12477932;12508121;12657635;15084259;16133170;16169070;17260156;17522785;17973255;18571142;18611861;19564653;19578037;19683680;19806373;20211142;20728410;20736978;20802204;20834067;21163940;21280142;21368052;21441262;21536641;21829377;21910242;22091895;22129046;22354967;22378868;22636604;22739344;22968132;23592496;23632790;23660594;23956198;24356439;24738188;24836831;7585630;7599184;7957066;7959731;8099441;8170957 2290 P55316 ABBA01061377;AL049777;AMYH02028916;AMYH02028917;BC035020;BC040960;BC050072;CH471078;DR001113;NG_009367;NM_005249;U44097;X74142;X74143;X74144;X78202 AAH50072;CAA52239;CAA52240;CAA52241;CAA55038;EAW65978;NP_005240;P55316 Hs.632336;Hs.740590;Hs.741222 BF1;BF2;FHKL3;FKH2;FKHL1;FKHL2;FKHL3;FKHL4;FOXG1A;FOXG1B;FOXG1C;HBF-1;HBF-2;HBF-3;HBF-G2;HBF2;HFK1;HFK2;HFK3;KHL2;QIN brain factor 1;brain factor 2;forkhead box G1B;forkhead box o1;forkhead box protein G1;forkhead-like 1;forkhead-like 2;forkhead-like 3;forkhead-like 4;oncogene QIN APPROVED protein-coding ENSG00000176165 HGNC:3811 01283 164874;613454 REVIEWED 2302532 FOXI3 forkhead box I3 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 2 2 2 p11.2 88034019 88038349 + 88747726 88752053 - 88448207 88452535 - 15815621;18787161 344167 A8MTJ6 ABBA01018811;AC012671;AMYH02004257;AMYH02004258;BN001221;BN001222;KF459612;NM_001135649 A8MTJ6;CAR63508;CAR63509;NP_001129121 Hs.716722 1755305 SHGC-142192 forkhead box protein I3 protein-coding HGNC:35123 612351 PROVISIONAL 1316609 FOXI1 forkhead box I1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it is possible that this gene plays an important role in the development of the cochlea and vestibulum, as well as embryogenesis. Mutations in this gene may be associated with the common cavity phenotype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q34 165564551 165568363 + 169532917 169536729 + 170105913 170109725 + 1580863;6480464;7240710;8554872;8699517 12477932;12695546;15489334;18564921;19214237;20301607;20301640;20621367;20809947;21145461;21832049;22412181;23648065;23965030;7683413;7957066;8825632;9153225 2299 E0XEN6;Q12951 ABBA01044102;AC008660;AK292176;AMYH02012714;AY707089;BC029778;CH471062;GU049150;GU049151;GU049152;GU049153;GU049154;GU049155;GU049156;GU049157;GU049158;GU049159;GU049160;GU049161;GU049162;GU049163;GU049164;GU049165;GU049166;GU049167;GU049168;GU049169;GU049170;GU049171;GU049172;GU049173;GU049174;GU049175;GU049176;GU049177;GU049178;GU049179;GU049180;GU049181;GU049182;GU049183;GU049184;GU049185;GU049186;GU049187;GU049188;GU049189;GU049190;GU049191;GU049192;GU049193;GU049194;GU049195;GU049196;GU049197;GU049198;GU049199;GU049200;GU049201;GU049202;GU049203;GU049204;GU049205;GU049206;GU049207;GU049208;GU049209;GU049210;GU049211;GU049212;GU049213;GU049214;GU049215;GU049216;GU049217;GU049218;GU049219;GU049220;GU049221;GU049222;GU049223;GU049224;GU049225;GU049226;GU049227;GU049228;GU049229;GU049230;GU049231;GU049232;GU049233;GU049234;GU049235;GU049236;GU049237;GU049238;GU049239;GU049240;GU049241;GU049242;GU049243;GU049244;GU049245;GU049246;GU049247;GU049248;GU049249;GU049250;GU049251;GU049252;GU049254;GU049255;GU049256;GU049257;GU049258;GU049259;GU049260;GU049261;GU049262;GU049263;GU049264;GU049265;GU049266;GU049267;GU049268;GU049269;L13203;NG_012068;NM_012188;NM_144769;U13224;XM_005265846 AAA92041;AAB50574;AAH29778;AAU12169;ADN03217;ADN03218;ADN03219;ADN03220;ADN03221;ADN03222;ADN03223;ADN03224;ADN03225;ADN03226;ADN03227;ADN03228;ADN03229;ADN03230;ADN03231;ADN03232;ADN03233;ADN03234;ADN03235;ADN03236;ADN03237;ADN03238;ADN03239;ADN03240;ADN03241;ADN03242;ADN03243;ADN03244;ADN03245;ADN03246;ADN03247;ADN03248;ADN03249;ADN03250;ADN03251;ADN03252;ADN03253;ADN03254;ADN03255;ADN03256;ADN03257;ADN03258;ADN03259;ADN03260;ADN03261;ADN03262;ADN03263;ADN03264;ADN03265;ADN03266;ADN03267;ADN03268;ADN03269;ADN03270;ADN03271;ADN03272;ADN03273;ADN03274;ADN03275;ADN03276;ADN03277;ADN03278;ADN03279;ADN03280;ADN03281;ADN03282;ADN03283;ADN03284;ADN03285;ADN03286;ADN03287;ADN03288;ADN03289;ADN03290;ADN03291;ADN03292;ADN03293;ADN03294;ADN03295;ADN03296;ADN03297;ADN03298;ADN03299;ADN03300;ADN03301;ADN03302;ADN03303;ADN03304;ADN03305;ADN03306;ADN03307;ADN03308;ADN03309;ADN03310;ADN03311;ADN03312;ADN03313;ADN03314;ADN03315;ADN03316;ADN03317;ADN03318;ADN03319;ADN03321;ADN03322;ADN03323;ADN03324;ADN03325;ADN03326;ADN03327;ADN03328;ADN03329;ADN03330;ADN03331;ADN03332;ADN03333;ADN03334;ADN03335;ADN03336;BAF84865;EAW61489;EAW61490;NP_036320;NP_658982;Q12951;XP_005265903 Hs.87236 1780766;1797540 FOXI1_2406;bac51983S FKH10;FKHL10;FREAC-6;FREAC6;HFH-3;HFH3;MGC34197 HNF-3/fork-head homolog 3;HNF-3/fork-head homolog-3;OTTHUMP00000160993;OTTHUMP00000223159;forkhead box protein I1;forkhead-like 10;forkhead-related activator 6;forkhead-related protein FKHL10;forkhead-related transcription factor 6;hepatocyte nuclear factor 3 forkhead homolog 3 APPROVED protein-coding ENSG00000168269 HGNC:3815 03057 600791;601093 REVIEWED 1322645 FOXH1 forkhead box H1 FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 141874214 141876817 - 145699115 145701718 - 144473732 144476335 - 1580863;2302137;6480464;5143919;8554872 16322555;18061509 10199400;10938097;11076863;11371641;12471260;12477932;12732634;15084259;15363409;15737749;15750622;15982639;16120611;16636667;16916642;17438144;17474147;17507406;18538293;18922797;19420158;19525021;19711044;20211142;20301702;20634891;21828274;9288972;9389648;9702198;9858566 8928 O75593;Q6P0Y2 ABBA01005203;AC084125;AF076292;AMYH02019008;BC051376;BC065377;BE550635;CH471162;CX782591;NG_030003;NM_003923 AAC34303;AAH65377;AAI11605;EAW82083;EAW82084;NP_003914;O75593 Hs.708365 1795862 FOXH1_434.2 FAST-1;FAST1;fast-2;hFAST-1 OTTHUMP00000228774;TGF-beta/activin signal transducer;forkhead activin signal transducer 1;forkhead activin signal transducer 2;forkhead activin signal transducer-1;forkhead box protein H1 APPROVED protein-coding ENSG00000160973 HGNC:3814 04689 603621 REVIEWED 8699126 FOXG1-AS1 FOXG1 antisense RNA 1 (head to head) q12 16344560;24007600 103695363 AL049777;BX426122;DA239559;NR_125758 Hs.569360 FOXG1-AS ncrna HGNC:50663 VALIDATED 1604502 FOXK1 forkhead box K1 ENCODES a protein that exhibits RNA polymerase II regulatory region sequence-specific DNA binding (inferred); sequence-specific DNA binding RNA polymerase II transcription factor activity (inferred); INVOLVED IN cell differentiation (inferred); muscle organ development (inferred); negative regulation of cell growth (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; benzo[a]pyrene 7 7 7 p22.1 4681702 4770725 + 4721930 4811074 + 4682299 4771443 + 6480464;8554872 12477932;12853948;14702039;15202027;15289879;15489334;16624804;17081983;17353931;18029348;19615732;19815555;20562859;20805357;21903422;22740631;22863883;23349634;23602568;24023788 221937 P85037;U3KQ26 ABBA01039429;AC072054;AC092428;AC092610;AK027883;AK122663;AK302243;AMYH02015119;AMYH02015120;AMYH02015121;AW205747;BC038434;CB959941;CH471144;NM_001037165 BAG53651;BAG63595;EAW87291;NP_001032242;P85037 Hs.487393 1645740;1668335;1675995;1852750;1852952;2131710;2140939;2146807;2153580;5014051;5015619;5015879;5015961;5016478;5020948;5022200;5022578;5022651;5024272;5037552;5109281;5117020 A008Y33;D11S2921;D11S3114;D15S1477;D1S1423;D1S1425;D2S1254;D7S2724;D8S2278;D8S2279;FOXK1;G35510;GDB:1317210;GDB:314949;GDB:3778183;GDB:434012;GDB:4585474;GDB:4585535;GDB:4585566;L18426;RH45530;RH92527 FLJ14977;FOXK1L;MNF FOXK1 {ECO:0000303|PubMed:15202027, ECO:0000303|PubMed:15289879};OTTHUMP00000200456;forkhead box protein K1;myocyte nuclear factor protein-coding ENSG00000164916 HGNC:23480 18750 VALIDATED 1323400 FOXJ3 forkhead box J3 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; menadione 1 1 1 p34.2 40924186 41082831 - 42642210 42801548 - 42176539 42335877 - 1580863;6480464;8554872 10470851;12421765;12477932;15489334;16751776;19322201;20379614;20811636;22740631;22939629;23933633;24654937;24846831 22887 C9JVP0;C9JXI1;F6VXT0;H7C1Y6;Q9UPW0 AB028964;ABBA01023135;ABBA01023136;ABBA01023137;ABBA01023138;ABBA01023139;AC096540;AC114492;AK027075;AK128307;AL157422;AMYH02000875;AMYH02000876;AMYH02000877;BC014182;BC063298;BC151828;BC152441;CH471059;NM_001198850;NM_001198851;NM_001198852;NM_014947;XM_005270632;XM_006710458;XM_006710459 AAH14182;AAI51829;AAI52442;AAI60166;BAA82993;CAB75651;EAX07162;EAX07163;EAX07164;EAX07165;EAX07166;EAX07167;NP_001185779;NP_001185780;NP_001185781;NP_055762;Q9UPW0;XP_005270689;XP_006710521;XP_006710522 Hs.26023 1338595;1340898;1682065;2107113;2123796;2151686;5037552 D1S1586;D1S1641;D3S1530;D8S2279;FOXJ3__6751;RH47361;RH92010 MGC165036;MGC176686 OTTHUMP00000007928;OTTHUMP00000007929;OTTHUMP00000007930;forkhead box protein J3 protein-coding ENSG00000198815 HGNC:29178 13549 616035 VALIDATED 1352114 FOXF2 forkhead box F2 FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008] 6 6 6 p25.3 2618774 2624536 + 1390069 1395832 + 1389834 1395597 + 1580863;6480464 17474147;19220249;19276632;19562724;20634891;23383207;23620774;7957066;7959731;8626802;9722567;9799607 2295 Q12947 ABBA01048651;AF084939;AL034346;AMYH02012967;CH471087;NM_001452;U13220 AAC32226;AAD19875;AAI72251;EAW55072;NP_001443;Q12947 Hs.484423 1850892 STS-N33380 FKHL6;FREAC-2;FREAC2 OTTHUMP00000017863;forkhead box protein F2;forkhead-like 6;forkhead-related activator 2;forkhead-related protein FKHL6;forkhead-related transcription factor 2 APPROVED protein-coding ENSG00000137273 HGNC:3810 09131 603250 REVIEWED 1353210 FOXL1 forkhead box L1 This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012] 16 16 16 q24 70913076 70916265 + 86612115 86615304 + 86578509 86581698 + 1580863;6480464;8554872 11078474;12477932;15188402;15489334;18564921;19801982;20198651;21457232;21536545;22504420;23251661;23801748;24249740;24427331;24430505;7957066;8889548 2300 M0R279;Q12952;Q498Y4 ABBA01034304;AC009108;AF315075;AMYH02032607;BC100027;BC117226;BM675371;CH471114;NG_032995;NM_005250;U13225 AAA92042;AAG40312;AAI00028;AAI17227;EAW95414;NP_005241;Q12952 Hs.533830 5492883 UniSTS:483145 FKH6;FKHL11;FREAC7 FREAC-7;OTTHUMP00000175008;forkhead box protein L1;forkhead-like 11;forkhead-related protein FKHL11;forkhead-related transcription factor 7 protein-coding ENSG00000176678 HGNC:3817 07219 603252 REVIEWED 2298743 FOXL2NB FOXL2 neighbor 3 3 3 q22.3 137092546 137099300 + 138666076 138672830 + 138947234 138953988 + 401089 F8WBY5;Q6ZUU3 ABBA01059072;AC092947;AC130416;AK125319;AK304483;AMYH02007784;NG_029796;NM_001040061;XM_005247443 BAC86125;BAH14198;NP_001035150;Q6ZUU3;XP_005247500 Hs.591303 2218710 UniSTS:463206 C3orf72;FLJ52231 FLJ43329 protein;OTTHUMP00000216880;uncharacterized protein C3orf72 APPROVED protein-coding ENSG00000206262 HGNC:34428 VALIDATED 1320713 FOXL2 forkhead box L2 This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jun 2009] 3 3 3 q23 137089495 137092452 - 138663066 138665982 - 138944224 138947140 - 1580863;1598958;6480464;7240710;8554872;8699517 11175783 10036183;10702024;11468277;11474656;11776388;11910558;11960581;12149404;12161610;12400065;12471206;12477932;12529855;12560069;12567411;12630957;12938087;15081106;15181179;15257268;15300845;15489334;15591279;15962237;16086270;16131596;16153597;16219626;16283882;16394030;16720712;16814186;17089161;17277738;17393695;17897532;17968144;18028747;18158309;18372316;18484667;18635577;18642388;18721930;18726931;19010791;19106105;19322201;19324968;19371227;1941972;19515849;19516027;19543368;19592504;19706741;19744555;19797124;19917504;19929410;19956657;19969293;19996294;20098707;20184535;20198651;20207836;20209145;20222838;20232352;20233786;20236120;20301614;20407010;20448577;20459545;20693978;20711176;20734064;21051974;21055199;21068205;21119601;21146150;21188138;21271216;21289058;21293260;21321671;21325395;21378549;21478824;21623383;21632871;21640373;21682576;21763750;21862621;22022399;22164424;22171663;22200085;22296244;22312189;22336067;22544055;22742556;22797072;22926839;23029457;23044875;23051594;23084143;23348906;23426431;23441113;23516377;23523567;23567549;23774170;24007948;24076780;24157616;24192202;24257635;24265544;24332943;24342437;24416423;24746205 668 P58012;Q53ZD3 ABBA01059072;AC092947;AF301906;AI089172;AMYH02007784;AY331134;BC019896;BC062549;BF512713;DQ016593;DQ016608;DQ016609;DQ089670;DQ089671;DQ089672;NG_012454;NG_029796;NM_023067 AAH19896;AAH62549;AAK01352;AAQ01519;AAY21821;AAY21822;AAY21823;AAY89234;AAY89235;AAY89236;NP_075555;P58012 Hs.289292 1797544;2165728;2218710 FOXL2_1880.3;RH47988;UniSTS:463206 BPES;BPES1;PFRK;POF3 OTTHUMP00000216888;PINTO;forkhead box protein L2;forkhead transcription factor FOXL2 APPROVED protein-coding ENSG00000183770 HGNC:1092 05723 110100;605597;608996 REVIEWED 1349825 FOXN1 forkhead box N1 Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008] 17 17 17 q11-q12 23709983 23724203 + 26833249 26865175 + 28506260 28538157 + 1599846;1580863;6480464;7240710;8554872;8699517 10206641 10483588;10767081;15180707;15316080;16232301;17592270;17803914;19729838;20429426;20634891;21507891;22721479;23922987;7969402;9321431 8456 J3KRT9;O15353 ABBA01015054;AC005726;AC015917;AK313878;AMYH02033223;CH471159;NG_007260;NM_003593;XM_005258046;Y11739;Y11740;Y11741;Y11742;Y11743;Y11744;Y11745;Y11746 AAI40424;AAI46540;BAG36604;CAA72416;CAA72417;EAW51092;NP_003584;O15353;XP_005258103 Hs.663679 FKHL20;RONU;WHN OTTHUMP00000163432;Rowett nude;forkhead box protein N1;winged helix nude;winged-helix nude;winged-helix transcription factor nude APPROVED protein-coding ENSG00000109101 HGNC:12765 02907 600838;601705 REVIEWED 1604404 FOXM1 forkhead box M1 The protein encoded by this gene is a transcriptional activator involved in cell proliferation. The encoded protein is phosphorylated in M phase and regulates the expression of several cell cycle genes, such as cyclin B1 and cyclin D1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 12 12 12 p13 4580805 4600257 - 2966846 2986321 - 2857681 2877155 - 2315927;6480464 19833884 10523841;11861839;12183437;12477932;14686788;15024056;15302935;15489334;15654331;15958562;16314512;16344560;16489016;16504183;16585184;16701100;16809346;16913845;16913846;16955137;17014965;17101782;17804744;17828269;17984092;18020943;18029348;18254960;18285455;18297053;18393292;18524773;18573889;18758239;18974115;19097132;19121844;19160488;19200615;19276163;19351851;19440351;19471022;19513552;19525975;19615363;19672312;19696738;19737929;19813088;20028985;20068070;20154714;20187950;20190804;20211142;20332230;20351091;20351289;20372080;20379221;20400365;20530690;20531406;20658516;20660304;20660612;20712011;20800603;20816795;20823107;21062979;21225456;21281787;21291630;21325289;21334713;21431285;21482449;21503965;21507930;21518729;21693764;21712406;21813648;21858223;21875482;21875579;21903609;21918172;21941087;21976009;21978825;21979956;21988832;22014570;22033266;22049175;22094256;22126565;22194465;22230500;22249132;22271891;22296117;22326401;22391450;22393369;22447226;22461910;22581827;22589409;22613004;22710948;22802261;22813746;22831955;22900969;22919068;22939624;22939629;22943878;23006512;23010597;23018647;23037713;23054116;23108394;23109430;23110199;23136192;23167412;23192351;23240008;23255470;23262037;23263830;23271813;23285957;23288041;23306612;23318431;23325617;23333330;23359173;23365673;23443798;23531216;23536876;23576572;23598278;23615399;23635401;23665201;23728617;23775078;23812424;23819460;23834153;23856032;23857410;23991102;24004449;24109597;24114764;24141769;24204899;24282087;24325450;24362530;24382352;24418574;24561124;24582501;24582753;24583551;24604117;24778055;24823640;24859161;8290587;9032290;9242644;9441747 2305 A8K591;H0YG99;H0YGS4;Q08050;Q53Y49 ABBA01048796;ABBA01048797;AC005841;AC005911;AK291206;AK313845;AMYH02025886;AW780338;AY542306;BC006192;BC006529;BC012863;BC035437;BQ229497;BT006986;CH471116;CS174342;DB137846;DQ022289;FB292650;JA417749;L16783;NG_029590;NM_001243088;NM_001243089;NM_021953;NM_202002;NM_202003;U74612;U74613;U83113;XM_005253676 AAC37541;AAC51128;AAC51129;AAC63595;AAH06192;AAH06529;AAH12863;AAP35632;AAT08175;AAY26401;ADZ15712;BAF83895;CAJ34550;CAP58600;CCD32724;EAW88880;EAW88881;EAW88882;EAW88883;NP_001230017;NP_001230018;NP_068772;NP_973731;NP_973732;Q08050;XP_005253733 Hs.239;Hs.735243 1685463;1687598;2119283;2145395;2151187 D12S1971;RH39759;RH45038;SHGC-30387;STS-T90364 FKHL16;FOXM1B;HFH-11;HFH11;HNF-3;INS-1;MPHOSPH2;MPP-2;MPP2;PIG29;TGT3 Forkhead, drosophila, homolog-like 16;HNF-3/fork-head homolog 11;M-phase phosphoprotein 2;MPM-2 reactive phosphoprotein 2;OTTHUMP00000237983;OTTHUMP00000237984;OTTHUMP00000237985;TRIDENT;forkhead box protein M1;forkhead-like 16;forkhead-related protein FKHL16;hepatocyte nuclear factor 3 forkhead homolog 11;transcription factor Trident;winged-helix factor from INS-1 cells APPROVED protein-coding ENSG00000111206 HGNC:3818 03823 602341 REVIEWED 732358 FOXJ1 forkhead box J1 This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009] 17 17 17 q25.1 70726321 70731288 - 74132414 74137380 - 76136333 76141299 - 704404;1580863;6480464 11060460;12477932;15489334;16518568;17008636;17474147;18160851;20539013;21988832;22488567;22945654;23479743;23822649;9073514;9096351;9530170 2302 Q92949 ABBA01028754;AC018665;AJ272064;AMYH02034007;BC046460;CH471099;DB458983;NG_013345;NM_001454;U69537;X99349;X99350 AAB09039;AAH46460;CAA67729;CAA67730;CAB76562;EAW89375;EAW89376;NP_001445;Q92949 Hs.651204 2168011 RH18286 FKHL13;HFH-4;HFH4;MGC35202 fork head homologue 4;forkhead box protein J1;forkhead transcription factor HFH-4;forkhead-like 13;forkhead-related protein FKHL13;hepatocyte nuclear factor 3 forkhead homolog 4 APPROVED protein-coding ENSG00000129654 HGNC:3816 03798 602291 REVIEWED 6892820 FOXN3-AS1 FOXN3 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid 14 14 14 q32.11 69931011 69933450 + 89883698 89886137 + 89417354 89419793 + 6480464;8554872 12477932 400236 ABBA01030519;AL356805;AMYH02029708;BC067103;NR_036500 Hs.585207 1657340 RH70765 APPROVED ncrna ENSG00000258920 HGNC:44290 VALIDATED 1343664 FOXN2 forkhead box N2 This gene encodes a forkhead domain binding protein and may function in the transcriptional regulation of the human T-cell leukemia virus long terminal repeat. [provided by RefSeq, Jul 2008] 2 2 2 p22-p16 48381574 48446198 + 48541783 48606434 + 48314644 48379295 + 1580863;6480464 12477932;14702039;1639393;17550899;18029348;19322201;20379614;21531217;21845734 3344 C9JTA7;P32314 AA827684;ABBA01075186;AC091485;AK123200;AMYH02003775;BC063305;BC069731;BQ025120;CR749839;NM_002158;U57029;XM_005264282;XM_005264283;XM_005264284;XM_005264285;XM_006712001;XM_006712002 AAB03504;AAH63305;AAH69731;AAY14813;ABZ92013;NP_002149;P32314;XP_005264339;XP_005264340;XP_005264341;XP_005264342;XP_006712064;XP_006712065 Hs.468478 1852189;2158722;2161062;2178548;2217456 HTLF_1826;RH68547;RH71240;SHGC-35937;STS-T50209 HTLF OTTHUMP00000159451;OTTHUMP00000200474;forkhead box protein N2;human T-cell leukemia virus enhancer factor APPROVED protein-coding ENSG00000170802 HGNC:5281 00882 143089 REVIEWED 1344904 FOXJ2 forkhead box J2 ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; sequence-specific DNA binding; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-templated; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH (S)-colchicine; 2-methylcholine; adenine 12 12 12 p13.31 9762431 9785190 + 8185298 8208118 + 8032702 8055522 + 1580863;6480464;8554872 10777590;10966786;12477932;12787665;14702039;15489334;18029348;18564921;18854154;19322201;19423540;19953087;20237496;20406964;20438785;21832049;22441887;8619474;8889548;9110174 55810 Q9P0K8 ABBA01012234;ABBA01012235;ABBA01012236;AC006511;AF038177;AF155132;AF155133;AK092529;AL161978;AMYH02025987;BC126396;BC136305;CB243304;CH471116;NM_018416;XM_005253430;XM_005253431 AAF65927;AAI26397;AAI36306;AAK49016;ADR83070;CAB82315;EAW88642;EAW88643;NP_060886;Q9P0K8;XP_005253487;XP_005253488 Hs.120844 1678613;1683599;1699978;1733590 D12S1089;RH103599;RH75303;RH91579 FHX FOXJ2 forkhead factor;OTTHUMP00000238947;OTTHUMP00000238948;fork head homologous X;forkhead box protein J2 protein-coding ENSG00000065970 HGNC:24818 17014 VALIDATED 1313904 FOXN3 forkhead box N3 This gene is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. Alternative splicing is observed at the locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008] 14 14 14 q31.3 69670626 70132768 - 89622516 90085506 - 89156172 89619150 - 1580863;6480464;8554872 11483580;12477932;12508121;14702039;15231747;15342556;15489334;16102918;16951149;17983802;18074379;19322201;19609547;20379614;20634891;20691664;22581228;23133627;23602568;23643386;8125298;8617492;8889549;9154802 1112 G3V3A7;G3V4N5;G3V5C7;H0YJ22;H0YJ43;H0YJ54;H0YJ94;H0YJG3;H0YJY0;O00409 AA149521;AA938188;ABBA01030514;ABBA01030515;ABBA01030516;ABBA01030517;ABBA01030518;ABBA01030519;ABBA01030520;AC007263;AF116643;AI084011;AI240081;AK055175;AK123929;AK225967;AK308053;AK314098;AL137230;AL138478;AL157736;AL163032;AL356805;AL357093;AMYH02029705;AMYH02029706;AMYH02029707;AMYH02029708;AMYH02029709;AMYH02029710;AMYH02029711;AMYH02029712;AMYH02029713;BC007506;BC010227;BC010460;BP213901;CB268882;CB989352;CH471061;KF455982;KF455987;NM_001085471;NM_005197;U68723 AAB58252;AAF18259;AAF71066;AAH07506;ACE86725;ACE87411;BAG36793;EAW81403;EAW81404;EAW81405;EAW81406;NP_001078940;NP_005188;O00409 Hs.434286 1338076;1341219;1649563;1651297;1651631;1657340;1670750;1672476;1679401;1681807;1686116;1702054;1710606;1713377;1718897;1728689;1730161;1736406;1739141;1754777;1759197;1765881;1767610;1775979;1779838;1783080;1849156;2125244;2131909;2137851;2144219;2144221;2147942;2149755;2157642;2162285;2162527;2168025;2173485;2180032;2183275;5093962;5123969;5127284 A006I41;A009Z34;AFMB322ZD9;BCD2267;D14S1044;D14S1066;D14S1309;D14S663E;D14S796;D14S825E;D14S839;D14S84E;D17S1981;G20858;G33025;G35371;G35779;G35884;G35943;G36076;G36276;G36293;G63636;GDB:451535;RH119543;RH123154;RH44912;RH68758;RH70765;RH78193;RH79968;RH80006;RH99189;SGC30907;SHGC-149301;SHGC-150901;SHGC-153839;SHGC-154522;SHGC-24269;SHGC-31015;SHGC-33595;SHGC-57697;SHGC-84090;STS-R16989 C14orf116;CHES1;PRO1635 OTTHUMP00000244668;OTTHUMP00000244669;OTTHUMP00000244670;OTTHUMP00000244769;checkpoint suppressor 1;forkhead box protein N3 APPROVED protein-coding ENSG00000053254 HGNC:1928 07533 602628 REVIEWED 6892830 FOXN3-AS2 FOXN3 antisense RNA 2 14 14 14 q32.11 70089837 70091098 + 90042560 90043821 + 89576216 89577477 + 12477932;12508121;15489334 29018 ABBA01030516;AF118074;AL163032;AMYH02029712;BC069658;BC069757;BC069775;CH471061;NR_024620 AAF22018;EAW81408 Hs.673124 PRO1768 APPROVED ncrna ENSG00000259073 HGNC:30119 VALIDATED 1313423 FOXK2 forkhead box K2 The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. [provided by RefSeq, Jul 2008] 17 17 17 q25 77111986 77156788 + 80477594 80562483 + 82519718 82604607 + 6480464;8554872 11230166;12402362;12477932;1339390;14702039;16624804;16625196;16964243;18029348;1909027;19615732;19815555;20097901;20805357;20810654;21282530;21693764;21903422;22083952;23667531;24163370;3260003;9065434 3607 E9PM37;E9PPI7;I3L4U8;Q01167 AA889932;ABBA01019682;ABBA01019683;ABBA01019684;ABBA01019685;ABBA01019686;ABBA01019687;ABBA01019688;ABBA01019689;ABBA01019690;AC124283;AC124287;AK096800;AK098140;AL832570;AMYH02034158;AMYH02034159;AMYH02034160;AMYH02034161;BC041569;CH471099;NM_004514;U58196;U58197;U58198;XM_006722281 AAB02820;AAB02821;AAB02822;EAW89800;EAW89801;EAW89802;NP_004505;Q01167;XP_006722344 Hs.591140 1697492;1754769;1775131;1797542;2139374;2151493;2172071;5094056;5125210 A005V25;D17S1282;FOXK2_2224;G34945;RH102248;RH44904;RH69204;RH79162;SHGC-33383 FOXK1;ILF;ILF-1;ILF1 OTTHUMP00000179134;OTTHUMP00000233365;cellular transcription factor ILF-1;forkhead box protein K2;interleukin enhancer binding factor 1;interleukin enhancer-binding factor 1 APPROVED protein-coding ENSG00000141568 HGNC:6036 00982 147685 REVIEWED 6482615 FOXN3P1 forkhead box N3 pseudogene 1 X X X q22.1 102240298 102241773 - 101801667 101803142 - 102546739 102548214 - 643976 ABBA01020946;AL035551;AMYH02040160;NG_022627 pseudo HGNC:43882 INFERRED 2292467 FOXO6 forkhead box O6 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH cyclosporin A; trichostatin A; valproic acid 1 1 1 p34.2 40110528 40132021 + 41827328 41849263 + 41361656 41383591 + 6480464 12857750;16710414;20379614;21388494;21708191;21926972;21940782;23324123;23714368 100132074 A6NCE0;A8MYZ6 ABBA01023148;ABBA01023149;ABBA01023150;ABBA01023151;AC093151;AI341823;AI361654;AMYH02000868;AMYH02000869;NM_001291281;XM_002342102;XM_003846623;XM_006726346 A8MYZ6;NP_001278210;XP_002342143;XP_003846671;XP_006726409 Hs.559677 OTTHUMP00000006324;forkhead box protein O6 protein-coding ENSG00000204060 HGNC:24814 611457 PROVISIONAL 1343239 FOXO1B forkhead box O1B pseudogene 5 5 5 q35.3 176151725 176153801 - 180525777 180527878 - 181098777 181100878 - 9479491 2311 ABBA01010091;AC008620;AF032888;AMYH02012917;NG_001120 FKHRP1 pseudo HGNC:3820 INFERRED 737155 FOXO1 forkhead box O1 This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008] 13 13 13 q14.1 22187272 22298190 - 41129801 41240734 - 40555664 40666597 - 704404;1582564;1580863;2301729;2302137;6480464;6484113;6907045;5143919;8699517;8554872 16322555;16952980;18061509;18336616 10358014;10358075;10783894;10871843;10973497;11030146;11237865;11311120;11353774;11435445;11672436;11735247;11893744;11980723;12039929;12150827;12163409;12228231;12242297;12477932;12482965;12493691;12519792;12560069;12606503;12921955;12960271;12966085;13679577;14664696;14726521;15047604;15057823;15084259;15109499;15140004;15184910;15220471;15342912;15489334;15582274;15613482;15632117;15668399;15688035;15688409;15692560;15778376;15890677;15905404;15987820;16076959;16100571;16123151;16133873;16154098;16282329;16485043;16492665;16497530;16571842;16670089;16690806;16709600;16849544;16885156;16916907;16943287;16950602;16952014;16964289;16973122;16979636;17030088;17038621;17050673;17077083;17202144;17210752;17218607;17258205;17285543;17404186;17442120;17478621;17490646;17491598;17525748;17555999;17556536;17597184;17599040;17609436;17613043;17638879;17873969;17986608;17993506;18006475;18022385;18029348;18096667;18280254;18301748;18303411;18316359;18356527;18408765;18420577;18483260;18497882;18497885;18612045;18660489;18692812;18713968;18718910;18786403;18787186;18788887;18805788;18815134;18844239;18951090;18988640;19049975;19058789;19075016;19086408;19103600;19141580;19150739;19221179;19233123;19244250;19254690;19281796;19293131;19308286;19321440;19442434;19463968;19483080;19503105;19513505;19535741;19549905;19563779;19574223;19584310;19633686;19675556;19686743;19696738;19727442;19740748;19757185;19772960;19787258;19793722;19887561;19893043;19948975;19953635;19956688;20018872;20033803;20061393;20095040;20125105;20151947;20351326;20353756;20357092;20406953;20412774;20485516;20543840;20682687;20719862;20819778;20868688;20874444;20884733;20933505;21069157;21075101;21116854;21177767;21177856;21179458;21185807;21238503;21298325;21320536;21321994;21373837;21388494;21396404;21423212;21440011;21440577;21442235;21505104;21510935;21539865;21541992;21613825;21655267;21666686;21670150;21696576;21697492;21708191;21747041;21775495;21804543;21993163;22013015;22072736;22089931;22159921;22180177;22197543;22213032;22266855;22315317;22343918;22374423;22389493;22400069;22411791;22417654;22454413;22489460;22515357;22538365;22552808;22569260;22622204;22653055;22675169;22761423;22761592;22821817;22865884;22931788;22992773;23002242;23025577;23029264;23035900;23041154;23059127;23077062;23105097;23142810;23160481;23255113;23263330;23277279;23291589;23381604;23389878;23401241;23435416;23460611;23469153;23494737;23532851;23574718;23603247;23614736;23615915;23640897;23677673;23686362;23721824;23733015;23733882;23748164;23778262;23799156;23803610;23814486;23851496;23855308;23865345;23874926;23951320;23995784;23995837;24028821;24089019;24123662;24140020;24145170;24260486;24265696;24268349;24269635;24334454;24374340;24398626;24423924;24424889;24448243;24478438;24705809;24746199;24762137;24771221;25009184;7630639;7862145;8275086;8634710;8790412;9479491 2308 Q12778 ABBA01021294;ABBA01021295;ABBA01021296;AF032885;AL133318;AL355132;AL592167;AMYH02027907;BC021981;BC070065;BT007455;BX648278;CH471075;NG_023244;NM_002015;U02310;U36922 AAA03629;AAC39591;AAH21981;AAH70065;AAP36123;EAX08627;NP_002006;Q12778 Hs.370666 1667591;1683152;1707760;1725519;1737523;1747085;1779802;1793672;1795864;1848446;2135334;2151857;2168761;5016919 D13S1051;D13S1162;D13S1447;FOXO1A_111;G64954;PMC25098P1;RH119158;RH47740;RH74854;RH78770;RH93960;SHGC-153775;SHGC-63663;SHGC-82099 FKH1;FKHR;FOXO1A OTTHUMP00000018301;forkhead box protein O1;forkhead box protein O1A;forkhead homolog in rhabdomyosarcoma;forkhead in rhabdomyosarcoma;forkhead, Drosophila, homolog of, in rhabdomyosarcoma APPROVED protein-coding ENSG00000150907 HGNC:3819 00645 136533 REVIEWED 1314977 FOXN4 forkhead box N4 Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004 [PubMed 15363391]).[supplied by OMIM, Mar 2008] 12 12 12 q24.11 109340232 109371435 - 109715783 109747025 - 109277978 109309220 - 6480464;8554872 12477932;14702039;15363391;15464224;15492871;16541075 121643 A6H901;Q96NZ1;S4R3U5 AA421288;ABBA01005066;AC012384;AF425596;AF425597;AK093286;AK131519;AMYH02027169;BC113073;BC146825;CH471054;NM_213596 AAI13074;AAI46826;AAL23949;AAL23950;BAD18661;EAW97856;EAW97857;NP_998761;Q96NZ1 Hs.528316 1681402;2217338 FOXN4_3704;RH92201 FLJ35967 OTTHUMP00000202582;forkhead box protein N4;forkhead/winged helix transcription factor FOXN4 APPROVED protein-coding ENSG00000139445 HGNC:21399 13550 609429 VALIDATED 1353756 FOXO4 forkhead box O4 This gene encodes a member of the O class of winged helix/forkhead transcription factor family. Proteins encoded by this class are regulated by factors involved in growth and differentiation indicating they play a role in these processes. A translocation involving this gene on chromosome X and the homolog of the Drosophila trithorax gene, encoding a DNA binding protein, located on chromosome 11 is associated with leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] X X X q13.1 70670001 70677287 + 70315999 70323384 + 71096149 71103534 + 1580863;2302137;6480464;6484113;5143919;8699517 16322555;18061509 10217147;10518537;10783894;10880363;10921784;10973497;11313479;11352721;11435445;11689711;11777915;11779849;11884591;12192052;12477932;12761217;12960271;12964026;14690436;15084259;15126506;15342556;15489334;15538382;15688004;15688030;15824087;15905404;16054032;16114898;16215946;16272144;16571842;16964248;17244620;18648506;18665269;18692812;18794148;19244250;19416966;19560465;19932102;20037138;20136501;20348951;20570964;20733005;20874444;20934750;21123876;21388494;21454807;21510935;21525355;21536589;21567078;21613825;21708191;21934092;22112832;22125836;22285440;22411791;23333309;23551888;23707940;23770673;24250222;7529552;9010221;9341872 4303 P98177 ABBA01067665;AF384029;AL590764;AMYH02039671;AW292413;BC026735;BC106761;BP349083;CH471132;NG_016418;NM_001170931;NM_005938;U10072;X93996;Y11284;Y11285;Y11286 AAA82171;AAI06762;AAL85197;CAA63819;CAA72156;EAX05321;EAX05322;NP_001164402;NP_005929;P98177 Hs.584654 AFX;AFX1;MGC120490;MLLT7 OTTHUMP00000023496;OTTHUMP00000023497;fork head domain transcription factor AFX1;forkhead box protein O4;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila);myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila), translocated to, 7;translocated to, 7 APPROVED protein-coding ENSG00000184481 HGNC:7139 02070 300033 REVIEWED 1348072 FOXO3B forkhead box O3B pseudogene INTERACTS WITH valproic acid 17 17 17 p11.2 3519 4134 + 18569236 18576494 - 18665923 18673181 - 6480464 12477932;22588664;9479491;9852958 2310 ABBA01002163;AC026271;AF032887;AF041336;AMYH02033116;BC015367;NR_026718 Hs.592126 1679187;1684856;1690163;1734512;1856510;2106477;2161167;2191075 D17S1454E;D17S2019;FOXO3A_4088;MARC_14315-14316:1007670343:1;RH65484;RH67795;RH75343;RH78823 FKHRL1P1;ZNF286C pseudo HGNC:3822 PROVISIONAL 1319403 FOXO3 forkhead box O3 This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 6 6 6 q21 109627171 109751905 + 108881026 109005972 + 108559823 108684769 + 1580863;2302137;2301729;6480464;6484113;6907045;5143919 16322555;18061509;18336616 10102273;10783894;11154281;11435445;11884591;11896584;12027802;12107410;12351634;12477932;12881712;12960271;14527951;14551207;14563822;14574404;14702039;14734530;14962911;14976264;14981546;15047604;15084259;15084260;15123239;15126506;15207915;15265780;15322085;15324660;15489334;15509806;15551757;15604093;15604409;15616007;15662024;15674333;15688014;15708996;15798096;15905404;16061480;16100571;16133873;16373335;16571842;16687394;16690749;16709600;16751106;16809346;16888645;16964248;16979636;17044646;17077388;17190839;17234971;17289590;17389761;17452451;17496928;17522055;17558024;17601350;17711846;17726016;17888023;17900262;17940099;17959613;17979178;18032526;18032780;18037997;18055337;18063811;18178829;18193458;18195003;18204439;18239069;18311149;18312651;18344987;18360030;18363870;18385518;18391984;18393360;18458087;18487207;18524825;18572085;18593906;18678662;18685617;18687691;18692812;18756565;18757210;18757300;18765803;18772130;18781224;18787191;18824006;18977241;18978678;18981303;19010793;19050264;19151395;19160093;19188590;19196970;19211844;19244250;19276113;19276163;19285077;19321440;19322201;19324885;19355923;19380174;19415983;19424579;19457552;19460752;19473970;19494111;19533653;19564415;19592618;19608644;19636295;19751111;19793722;19799812;19807657;19911116;19913121;19917721;19933843;19940129;20018851;20018872;20040763;20110348;20169663;20190568;20215543;20219431;20306291;20371605;20371610;20371612;20379614;20562859;20625400;20628086;20631076;20656682;20671123;20677014;20729811;20733005;20808831;20849522;20862322;20868776;20874444;20881262;20884733;20934750;20956937;20966391;20978166;21092744;21138866;21203424;21209944;21216879;21304824;21336599;21393426;21436588;21447726;21452041;21458454;21510935;21532621;21604264;21613825;21621268;21621563;21685924;21690325;21690554;21705328;21708191;21713995;21715626;21725602;21732363;21775285;21777391;21793107;21813271;21841822;21860419;21900206;21910584;21911455;21915097;21926463;21933986;21965295;22015955;22094256;22107151;22128155;22139133;22159921;22209974;22223847;22310285;22349704;22394200;22411791;22430142;22435562;22451935;22459618;22474286;22474372;22515357;22531926;22552808;22582938;22588664;22590725;22714061;22718346;22743331;22748238;22761423;22761954;22815774;22820736;22833338;22848740;22892845;22893124;22922206;22971992;22978663;23071284;23085518;23250986;23262029;23262295;23278239;23295054;23340844;23378341;23418729;23492774;23509296;23535732;23568341;23580232;23585551;23592131;23603907;23624922;23640897;23665396;23691078;23732517;23828518;23828551;23851496;23855308;23857333;23907459;23920411;23950211;23966291;23967095;23967259;23970205;23975182;23982205;24021689;24028821;24035192;24047697;24123662;24140020;24255178;24257750;24265696;24269635;24284420;24333267;24337611;24360957;24448243;24630930;24684457;24766860;24920680;24990963;9345057;9479491;9852958 2309 O43524 AB072905;ABBA01026143;ABBA01026144;AF032886;AI554317;AJ001589;AJ001590;AK024103;AK092357;AK122861;AK301304;AK303933;AL096818;AL365509;AL391646;AMYH02014274;AMYH02014275;AMYH02014276;BC020227;BC021224;BC045800;BC068552;CA389775;CD101760;CH471051;CR749261;NM_001455;NM_201559;XM_005266867;XM_005266868 AAC39592;AAH20227;AAH21224;AAH68552;BAG62858;BAG64861;CAA04860;CAA04861;CAH18117;EAW48373;EAW48374;NP_001446;NP_963853;O43524;XP_005266924;XP_005266925 Hs.220950 1649807;1667854;1675531;1679187;1684856;1688370;1690163;1734512;2106477;2143987;2161167;2170085;2191075;5022322 A008N03;D11S2560;D17S1454E;D6S2431;FOXO3A_4088;MARC_14315-14316:1007670343:1;RH65484;RH67795;RH69580;RH75343;RH78823;RH79704;SGC33792;SHGC-36190 AF6q21;DKFZp781A0677;FKHRL1;FKHRL1P2;FOXO2;FOXO3A;MGC12739;MGC31925 OTTHUMP00000016944;forkhead box O3A;forkhead box protein O3;forkhead homolog (rhabdomyosarcoma) like 1;forkhead in rhabdomyosarcoma-like 1;forkhead, Drosophila, homolog of, in rhabdomyosarcoma-like 1 APPROVED protein-coding ENSG00000118689 HGNC:3821 04061 602681 REVIEWED 1320240 FOXR1 forkhead box R1 This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix proteins with a core DNA-binding domain of approximately 110 aa. Many FOX transcription factors play roles in determining cell fates during early development. This forkhead box protein lacks the C-terminal basic region found in many other FOX family members. It is located within the 11q23.3 region which is commonly deleted in neuroblastomas. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 116001159 116001447 + 118842417 118851997 + 118971707 118981287 + 6480464;8554872 12477932;15067358;15489334;15492844;21860421 283150 H0YCU3;Q6PIV2 AB094092;ABBA01039684;AMYH02025659;AP003392;AP004609;BC028191;BC038969;BC125040;EF444979;NM_181721;XM_005271514;XR_428974 AAH28191;AAH38969;AAI25041;ACA05993;BAC76046;NP_859072;Q6PIV2;XP_005271571 Hs.116679 1736971 D11S2682 DLNB13;FOXN5;MGC149486 OTTHUMP00000232690;forkhead box R1 variant 1;forkhead box protein N5;forkhead box protein R1 APPROVED protein-coding ENSG00000176302 HGNC:29980 13551 615755 REVIEWED 1352257 FOXR2 forkhead box R2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) X X X p11.21 59489526 59492314 + 55649833 55652621 + 55623400 55626188 + 6480464;8554872 12477932;15202009;15202027;15489334;23455924 139628 Q6PJQ5 ABBA01069511;AL159987;AMYH02039516;BC012934;NG_021325;NM_198451 AAH12934;ABZ92413;NP_940853;Q6PJQ5 Hs.364260 FOXN6;MGC21658 OTTHUMP00000217953;forkhead box protein N6;forkhead box protein R2 protein-coding HGNC:30469 13552 VALIDATED 1604612 FOXRED1 FAD-dependent oxidoreductase domain containing 1 This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] 11 11 11 q24.2 123304079 123313220 + 126138935 126148027 + 126269040 126278132 + 6480464;7240710;8554872;8699517 10497265;11076863;11230166;11256614;12477932;14702039;15231747;15489334;15489336;16344560;16381901;16582907;19913121;20301352;20301382;20301403;20628086;20818383;20858599;20877624;21139048;21890473;21963094;24816145 55572 B4DXM1;E9PNK9;E9PP78;Q96CU9 ABBA01031225;ABBA01031226;AF103801;AF447877;AK023987;AK126067;AK295267;AK295428;AK298010;AK298807;AK302039;AL136923;AMYH02025745;AMYH02025746;AP001318;BC002910;BC013902;CH471065;DA056004;NG_028029;NM_017547;NR_037647;NR_037648;XM_006718878;XM_006718879;XM_006718880;XM_006718881 AAF02421;AAH02910;AAH13902;AAQ04652;BAG51246;BAG58254;BAG58371;BAG60314;BAG60942;BAG63433;CAB66857;CAL38585;EAW67681;EAW67682;EAW67683;NP_060017;Q96CU9;XP_006718941;XP_006718942;XP_006718943;XP_006718944 Hs.317190 1677708;2117948;2167344;2177209;5015961;5022200;5022588;5022651;5092960;5126809 A009D04;D11S2921;D11S4721;D15S1477;D5S1597E;G32436;L18426;MARC_7607-7608:996688009:1;RH79036;RH80716 FP634;H17 FAD-dependent oxidoreductase domain-containing protein 1;OTTHUMP00000231108;OTTHUMP00000231111 APPROVED protein-coding ENSG00000110074 HGNC:26927 13620 252010;256000;613622 REVIEWED 1322820 FOXP4 forkhead box P4 This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 43067608 43123566 + 41514164 41570122 + 41546426 41602384 + 737633;1582564;1580863;6480464 12477932;16952980 12617805;12818433;14516685;14701752;14702039;15489334;15492844;17567994;18029348;18322169;19471022;19913121;20237496;20628086;20676098;21693764;21890473;22662242;22912696;22939629;23667531 116113 A2A312;B7ZBM3;Q8IVH2 AB080747;ABBA01050753;ABBA01050754;AK094912;AK098227;AL139331;AL832437;AMYH02013607;AW450805;BC009628;BC013030;BC016874;BC034931;BC040962;BC052803;CH471081;DQ656018;NM_001012426;NM_001012427;NM_138457;XM_006714991;XM_006714992;XM_006714993;XM_006714994;XM_006714995 AAH13030;AAH16874;AAH34931;AAH40962;AAH52803;ABZ92377;BAC53809;CAH10652;EAX04047;EAX04048;EAX04049;EAX04050;NP_001012426;NP_001012427;NP_612466;Q8IVH2;XP_006715054;XP_006715055;XP_006715056;XP_006715057;XP_006715058 Hs.131436 1800896;1801166;1801810;1803386;1804008;1804230;1804378;1804478;1804592;1804928;1805090;1805358;1805360;1805832;1807140;1809120;1809216;1809466;1809670;1810236;1810238;1810402;1810906;1811052;1811130;1811294;1811680;1811772;1812068;1813064;1813216;1813712;1814658;1815212;1816096;1816174;1817972;1818056;1818138;1818856;1819300;1819498;1820646;1820694;1821032;1822072;1822860;1824858;1825022;1825248;1827282;1827452;1828208;1829270;1829272;1831360;1832508;1833988;1834434;1836120;1836510;1836858;1836962;1837800;1844500;1845188;1978056;1978058;1978060;1978062;1978064;1978066;1978068;1978070;1978072;1978074;1978076;1978078;1978080;1978082;1978084;1978086;1978088;1978090;1978092;1978094;1978096;1978098;1978100;1978102;1978104;1978106;1978108;1978110;1978112;1978114;1978116;1978118;1978120;1978122;1978124;1978126;1978128;1978130;1978132;1978134;1978136;1978138;1978140;1978142;1978144;1978146;1978148;1978150;1978152;1978154;1978156;1978158;1978160;1978162;1978164;1978166;1978168;1978170;1978172;1978174;1978176;1978178;1978180;1978182;1978184;1978186;1978188;1978190;1978192;1978194;1978196;1978198;1978200;1978202;1978204;1978206;1978208;1978210;1978212;1978214;1978216;1978218;1978220;1978222;1978224;1978226;1978228;1978230;1978232;1978234;1978236;1978238;1978240;1978242;1978244;1978246;1978248;1978250;1978252;1978254;1978256;1978258;1978260;1978262;1978264;1978266;1978268;1978270;1978272;1978274;1978276;1978278;1978280;1978282;1978284;1978286;1978288;1978290;1978292;1978294;1978296;1978298;1978300;1978302;1978304;1978306;1978308;1978310;1978312;1978314;1978316;1978318;1978320;1978322;1978324;1978326;1978328;1978330;1978332;1978334;1978336;1978338;1978340;1978342;1978344;1978346;1978348;1978350;1978352;1978354;1978356;1978358;1978360;1978362;1978364;1978366;1978368;1978370;1978372;1978374;1978376;1978378;1978380;1978382;1978384;1978386;1978388;1978390;1978392;1978394;1978396;1978398;1978400;1978402;1978404;1978406;1978408;1978410;1978412;1978414;1978416;1978418;1978420;1978422;1978424;1978426;1978428;1978430;1978432;1978434;1978436;1978438;1978440;1978442;1978444;1978446;1978448;1978450;1978452;1978454;1978456;1978458;1978460;1978462;1978464;1978466;1978468;1978470;1978472;1978474;1978476;1978478;1978480;1978482;1978484;1978486;1978488;1978490;1978492;1978494;1978496;1978498;1978500;1978502;1978504;1978506;1978508;1978510;1978512;1978514;1978516;1978518;1978520;1978522;1978524;1978526;1978528;1978530;1978532;1978534;1978536;1978538;1978540;1978542;1978544;1978546;1978548;1978550;1978552;1978554;1978556;1978558;1978560;1978562;1978564;2215958;2215960;2215962;2215964;2215966;2215968;2215970;2215972;2215974;2215976;2215978;2215980;2215982;2215984;2215986;2215988;2215990;2215992;2215994;2215996;2215998;2216000;2216002;2216004;2216006;2216008;2216010;2216012;2216014;2216016;2216018;2216020;2216022;2216024;2216026;2216028;2216030;2216032;2216034;2216036;5015619;5037552 D11S3114;D8S2279;ECD01313;ECD01455;ECD01786;ECD02590;ECD02919;ECD03038;ECD03113;ECD03164;ECD03228;ECD03400;ECD03487;ECD03626;ECD03627;ECD03867;ECD04536;ECD05549;ECD05598;ECD05725;ECD05827;ECD06110;ECD06111;ECD06193;ECD06451;ECD06524;ECD06563;ECD06645;ECD06844;ECD06890;ECD07039;ECD07551;ECD07628;ECD07879;ECD08359;ECD08641;ECD09088;ECD09127;ECD10041;ECD10084;ECD10125;ECD10492;ECD10717;ECD10816;ECD11398;ECD11422;ECD11592;ECD12122;ECD12518;ECD13528;ECD13610;ECD13725;ECD14756;ECD14842;ECD15229;ECD15764;ECD15765;ECD16816;ECD17393;ECD18141;ECD18365;ECD19221;ECD19418;ECD19593;ECD19645;ECD20070;ECD23464;ECD23811;REN59918;REN59919;REN59920;REN59921;REN59922;REN59923;REN59924;REN59925;REN59926;REN59927;REN59928;REN59929;REN59930;REN59931;REN59932;REN59933;REN59934;REN59935;REN59936;REN59937;REN59938;REN59939;REN59940;REN59941;REN59942;REN59943;REN59944;REN59945;REN59946;REN59947;REN59948;REN59949;REN59950;REN59951;REN59952;REN59953;REN59954;REN59955;REN59956;REN59957;REN59958;REN59959;REN59960;REN59961;REN59962;REN59963;REN59964;REN59965;REN59966;REN59967;REN59968;REN59969;REN59970;REN59971;REN59972;REN59973;REN59974;REN59975;REN59976;REN59977;REN59978;REN59979;REN59980;REN59981;REN59982;REN59983;REN59984;REN59985;REN59986;REN59987;REN59988;REN59989;REN59990;REN59991;REN59992;REN59993;REN59994;REN59995;REN59996;REN59997;REN59998;REN59999;REN60000;REN60001;REN60002;REN60003;REN60004;REN60005;REN60006;REN60007;REN60008;REN60009;REN60010;REN60011;REN60012;REN60013;REN60014;REN60015;REN60016;REN60017;REN60018;REN60019;REN60020;REN60021;REN60022;REN60023;REN60024;REN60025;REN60026;REN60027;REN60028;REN60029;REN60030;REN60031;REN60032;REN60033;REN60034;REN60035;REN60036;REN60037;REN60038;REN60039;REN60040;REN60041;REN60042;REN60043;REN60044;REN60045;REN60046;REN60047;REN60048;REN60049;REN60050;REN60051;REN60052;REN60053;REN60054;REN60055;REN60056;REN60057;REN60058;REN60059;REN60060;REN60061;REN60062;REN60063;REN60064;REN60065;REN60066;REN60067;REN60068;REN60069;REN60070;REN60071;REN60072;REN60073;REN60074;REN60075;REN60076;REN60077;REN60078;REN60079;REN60080;REN60081;REN60082;REN60083;REN60084;REN60085;REN60086;REN60087;REN60088;REN60089;REN60090;REN60091;REN60092;REN60093;REN60094;REN60095;REN60096;REN60097;REN60098;REN60099;REN60100;REN60101;REN60102;REN60103;REN60104;REN60105;REN60106;REN60107;REN60108;REN60109;REN60110;REN60111;REN60112;REN60113;REN60114;REN60115;REN60116;REN60117;REN60118;REN60119;REN60120;REN60121;REN60122;REN60123;REN60124;REN60125;REN60126;REN60127;REN60128;REN60129;REN60130;REN60131;REN60132;REN60133;REN60134;REN60135;REN60136;REN60137;REN60138;REN60139;REN60140;REN60141;REN60142;REN60143;REN60144;REN60145;REN60146;REN60147;REN60148;REN60149;REN60150;REN60151;REN60152;REN60153;REN60154;REN60155;REN60156;REN60157;REN60158;REN60159;REN60160;REN60161;REN60162;REN60163;REN60164;REN60165;REN60166;REN60167;REN60168;REN60169;REN60170;REN60171;REN60172;stSG634828;stSG634829;stSG634830;stSG634831;stSG634832;stSG634833;stSG634834;stSG634835;stSG634836;stSG634837;stSG634838;stSG634839;stSG634840;stSG634841;stSG634842;stSG634843;stSG634844;stSG634845;stSG634846;stSG634848;stSG634849;stSG634850;stSG634851;stSG634852;stSG634854;stSG634855;stSG634856;stSG634857;stSG634859;stSG634860;stSG634861;stSG634862;stSG634863;stSG634864;stSG634865;stSG634866;stSG634868;stSG634870;stSG634871;stSG634872 FLJ40908;FLJ44184;hFKHLA OTTHUMP00000016374;OTTHUMP00000043412;OTTHUMP00000043536;OTTHUMP00000203950;fork head-related protein like A;fork head-related protein-like A;forkhead box protein P4;winged-helix repressor FOXP4 APPROVED protein-coding ENSG00000137166 HGNC:20842 10600 608924 REVIEWED 732997 FOXQ1 forkhead box Q1 FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expression, cell signaling, and tumorigenesis (Bieller et al., 2001 [PubMed 11747606]).[supplied by OMIM, May 2009] 6 6 6 p25 2541803 2544121 + 1312675 1314993 + 1312440 1314758 + 1580863;6480464 11309849;11747606;12011061;12477932;15489334;19533653;20145154;20467438;20686608;21285253;21346143;22126837;22773346;22948034;23383267;23403865;23535729;23555880;23609035;23623360;23723077;24005989;24200849;24211718;8889548 94234 Q9C009 ABBA01048654;ABBA01048655;AF153341;AF225950;AL499606;AMYH02012964;BC053850;BM980542;BU566731;CH471087;NM_033260 AAF75586;AAH53850;AAK00639;EAW55070;NP_150285;Q9C009 Hs.591352 HFH-1;HFH1 HNF-3/forkhead-like protein 1;OTTHUMP00000017774;forkhead box protein Q1;hepatocyte nuclear factor 3 forkhead homolog 1;hnf-3/forkhead homolog-1;winged helix/forkhead transcription factor APPROVED protein-coding HGNC:20951 17015 612788 VALIDATED 1321722 FOXS1 forkhead box S1 The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 27188450 27189767 - 30432103 30433420 - 31844300 31845617 - 1580863;6480464 11780052;12477932;15489334;16189514;17062144;20211142;21832049;9325056 2307 O43638 ABBA01019290;AF042831;AL160175;AMYH02036907;BC013408;BT009768;CH471077;NM_004118 AAC15420;AAH13408;AAP88770;ABM87104;ABW03842;EAW76413;NP_004109;O43638 Hs.516971 FKHL18;FREAC10;MGC4544 FREAC-10;OTTHUMP00000030540;forkhead box protein S1;forkhead-like 18 protein;forkhead-related activator 10;forkhead-related transcription factor 10;forkhead-related transcription factor FREAC-10 APPROVED protein-coding ENSG00000179772 HGNC:3735 04246 602939 REVIEWED 1318576 FOXP1 forkhead box P1 This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 3 p14.1 70931660 71563756 - 71003865 71633140 - 70954714 71583989 - 1582564;1580863;6480464;7240710;8554872;8699517 16952980 11042152;11751404;11757404;12477932;12692134;14701752;14702039;15056695;15161711;15286807;15492844;15703784;15709173;16200457;16258506;16344560;16636337;16673020;17199743;17344859;17477366;18026833;18029348;18077790;18332236;18347093;18487996;18640093;18821565;18925695;19141121;19322201;19352412;19365123;19416867;19417623;19432679;19438754;19448593;19471022;19487025;19622517;19680146;19760589;19913121;19925052;20185820;20190138;20237496;20379614;20526340;20571508;20579129;20628086;20848658;20950788;21120478;21150319;21154235;21210727;21416545;21460242;21606195;21655267;21660567;21683954;21693764;21832150;21901488;21924763;21927029;21934230;21947824;21962897;21988832;22368156;22401769;22422806;22476979;22492998;22589738;22736042;22809882;22904134;23166209;23382691;23580662;23766104;23793025;23810008;24002674;24023716;24121790;24211718;24214399;24416450;24787006;25027693;7566098;8265594 27086 C9IYY1;C9J0F0;C9J5T4;E9PFD3;G5E965;H0Y882;Q548T7;Q8N2P0;Q8TEA2;Q9H334 AA380962;AB052767;ABBA01030923;ABBA01030924;ABBA01030925;ABBA01030926;ABBA01030927;ABBA01030928;ABBA01030929;ABBA01030930;ABBA01030931;ABBA01030932;ABBA01030933;ABBA01030934;ABBA01030935;ABBA01030936;AC097632;AC097634;AC103586;AC104442;AC104645;AC138058;AF146696;AF151049;AF250920;AF275309;AK026898;AK027264;AK074321;AK074569;AK092383;AK122710;AK297649;AMYH02007037;AMYH02007038;AMYH02007039;AMYH02007040;AMYH02007041;AMYH02007042;AMYH02007043;AMYH02007044;AMYH02007045;BC005055;BC054505;BC054815;BC068481;BC071893;BC080521;BC131720;BT006643;BX647682;CH471055;CQ834150;CQ834152;CR457164;DA518749;DA634017;GD144178;JB619734;NG_028243;NM_001012505;NM_001244808;NM_001244810;NM_001244812;NM_001244813;NM_001244814;NM_001244815;NM_001244816;NM_032682;XM_005264729;XM_005264735;XM_005264736;XM_005264737;XM_005264738;XM_005264742;XM_006713102;XM_006713103;XM_006713104;XM_006713105;XM_006713106;XM_006713107;XR_427266 AAF36135;AAG47632;AAH05055;AAH54815;AAH71893;AAH80521;AAI31721;AAI52753;AAK69408;AAL56661;AAP35289;BAB55005;BAB85050;BAC03875;BAC11065;BAC53800;BAG53682;BAG60016;CAG33445;CAH05290;CAH05291;CDI30172;EAW65489;EAW65490;EAW65491;EAW65492;EAW65493;EAW65494;EAW65495;EAW65496;EAW65497;EAW65498;EAW65499;EAW65500;NP_001012523;NP_001231737;NP_001231739;NP_001231741;NP_001231742;NP_001231743;NP_001231744;NP_001231745;NP_116071;Q9H334;XP_005264786;XP_005264792;XP_005264793;XP_005264794;XP_005264795;XP_005264799;XP_006713165;XP_006713166;XP_006713167;XP_006713168;XP_006713169;XP_006713170 Hs.59368 1298116;1338249;1646354;1649256;1662518;1679185;1679601;1679798;1684096;1686284;1693822;1698156;1715731;1716387;1718987;1719701;1719813;1725197;1752735;1769853;1770842;1779242;1848579;1852099;1855295;2114438;2119024;2125401;2125715;2129222;2136848;2139069;2139473;2150065;2151564;2151825;2155414;2157351;2157984;2160073;2161050;2182179;2185532;2190621;5014063;5016478;5020274;5022200;5022578;5093486;5109663;5112179;7186108;7186280 A009P35;D15S1390;D1S1423;D3S1210;D3S1562;D3S3533;D3S3568;D3S4146;D3S4159;D3S659;D7S2067E;G32747;GDB:434012;L18426;L18441;REN159M20;RH102172;RH102611;RH119312;RH121374;RH123202;RH123539;RH123599;RH12371;RH124072;RH44896;RH46320;RH65612;RH80112;RH80573;RH80601;RH80682;RH94234;SGC30239;SGC34626;SHGC-106545;SHGC-152998;SHGC-17103;SHGC-37104;SHGC-56612;SHGC-77081;SHGC-77088;SHGC-77090;SHGC-77096;SHGC-77108;STS-H63744;STS-T93311;STS-W89007;WI-11225;WI-16704;WI-17022;WI-17713 12CC4;FLJ23741;HSPC215;MGC12942;MGC88572;MGC99551;QRF1;hFKH1B OTTHUMP00000213499;OTTHUMP00000213500;OTTHUMP00000213501;OTTHUMP00000213502;OTTHUMP00000213503;OTTHUMP00000213504;OTTHUMP00000213505;OTTHUMP00000213506;OTTHUMP00000213507;OTTHUMP00000213508;fork head-related protein like B;forkhead box protein P1;glutamine-rich factor 1 2315897 GLUCO187_H APPROVED protein-coding ENSG00000114861 HGNC:3823 18518 605515;613670 REVIEWED 5491090 FPGT-TNNI3K FPGT-TNNI3K readthrough This locus represents naturally occurring read-through transcription from the neighboring fucose-1-phosphate guanylyltransferase (FPGT) and TNNI3 interacting kinase (TNNI3K) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. [provided by RefSeq, Dec 2010] 1 1 p31.1 74663896 75010116 + 74198212 74544432 + 6480464;8554872 12477932;20935630;20967262;23449627;23563607;23669352 100526835 A6NHC7;E9PKE1;Q59H18;V9GXZ4 AB208941;ABBA01074425;ABBA01074426;ABBA01074427;ABBA01074428;ABBA01074429;AC093158;AC098692;AC105271;AC119672;AMYH02001267;AMYH02001268;AMYH02001269;AMYH02001270;AMYH02001271;AMYH02001272;AMYH02001273;AMYH02001274;BC032865;BQ447828;BX470253;BX640903;NG_032939;NM_001112808;NM_001199327 AAH32865;BAD92178;CAE45949;NP_001106279;NP_001186256 Hs.480085 1698188 RH102630 DKFZp686C06106;MGC33828 FPGT-TNNI3K fusion protein;OTTHUMP00000011169;OTTHUMP00000011185;OTTHUMP00000232461;OTTHUMP00000245821;OTTHUMP00000245822 protein-coding ENSG00000116783;ENSG00000259030 HGNC:42952 VALIDATED 1342569 FPGT fucose-1-phosphate guanylyltransferase L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010] 1 1 1 p31.1 72909489 72918673 + 74663896 74674533 + 74198212 74208702 + 1302737;1580863;6480464;6907045;8554872 9804772 12477932;15489334;16086588;16185085;16344560;16582493;22939629;24250222;8125298 8790 B4DH62;E9PK10;E9PMK0;E9PMM4;H0YDF0;O14772 ABBA01074428;ABBA01074429;AC098692;AF017445;AF017446;AI025848;AK223254;AK294948;AK299468;AK304490;AMYH02001267;BC020720;BC032308;CH471059;CR743704;DB066016;NG_032939;NM_001199328;NM_001199329;NM_003838 AAC73005;AAC82511;AAH20720;AAH32308;BAD96974;BAG58023;BAG61434;BAG65299;EAX06417;NP_001186257;NP_001186258;NP_003829;O14772 Hs.480085 1643762;1647163;1668748;1711004;1735972;2109319;2174287 A005C44;D1S1962E;D1S3377;FPGT_8857;RH12316;SGC38103;SHGC-84880 GFPP GDP-L-fucose diphosphorylase;GDP-L-fucose pyrophosphorylase;GDP-beta-L-fucose pyrophosphorylase;OTTHUMP00000011171;OTTHUMP00000232454;OTTHUMP00000232456;OTTHUMP00000232458;OTTHUMP00000232459;fucose-1-phosphate guanyltransferase APPROVED protein-coding ENSG00000254685 HGNC:3825 06790 603609 REVIEWED 1348507 FOXP3 forkhead box P3 The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X X p11.23 52543105 52557472 + 49106897 49122200 - 49250436 49265738 - 1598959;1580863;6480464;7240710;8554872;8699517 11137992 10677306;11076863;11120765;11137993;11138001;11483607;11768393;12296863;12477932;12750858;14597769;14671208;14997560;15100250;15172973;15220219;15246158;15374887;15466453;15489334;15620457;15652505;15674359;15772651;15790681;15952173;15972448;16003241;16091206;16211090;16278306;16322292;16339542;16339919;16344560;16368541;16410445;16493082;16517728;16551363;16557241;16574699;16583400;16596204;16617117;16645171;16652169;16652285;16728694;16741580;16764698;16818738;16825494;16873067;16881731;16901927;16903909;16920951;16955142;16956389;16996248;17028180;17033038;17154262;17161353;17175222;17183612;17216339;17230494;17262084;17286616;17289884;17299718;17309822;17311282;17327427;17329235;17360565;17377532;17378693;17389235;17393103;17414320;17414718;17418529;17445472;17463169;17508019;17526924;17565321;17570480;17574040;17589345;17612516;17615291;17641056;17644307;17666212;17694575;17703412;17706604;17712427;17712989;17712998;17713426;17804750;17851585;17878390;17903368;17916446;17921346;17932340;17954183;17970785;17975141;18008005;18024321;18034969;18047933;18089323;18092263;18155891;18156149;18162042;18171284;18173798;18178814;18231910;18240282;18246047;18261176;18270250;18270368;18279718;18286169;18294387;18304876;18317533;18324310;18331599;18354202;18368049;18394345;18395862;18412171;18413409;18413770;18424697;18430198;18434325;18496979;18510637;18510697;18533240;18544681;18579608;18606654;18628982;18641303;18641304;18665940;18667728;18681861;18690669;18769452;18794055;18802341;18818377;18825388;18829063;18836525;18844067;18924611;18931102;18941119;18951619;18973208;19022313;19034005;19039775;19085184;19089920;19096978;19104431;19108017;19111574;19120312;19124747;19125672;19132983;19136904;19141582;19150256;19155519;19168733;19178794;19189134;19192224;19199536;19201288;19203731;19237575;19242793;19255314;19255331;19258923;19264232;19264985;19273860;19276356;19283780;19328914;19358983;19363449;19364305;19373655;19383912;19392991;19394278;19408243;19419438;19424039;19439651;19453521;19464196;19470254;19481824;19513564;19536194;19542249;19545671;19549358;19564342;19568423;19569243;19577568;19596013;19604349;19614769;19628330;19639723;19641188;19641607;19648226;19648277;19648312;19650850;19651619;19661482;19664391;19666573;19667946;19673890;19674197;19679154;19696312;19703716;19714314;19727215;19738030;19739430;19751272;19752528;19779259;19787238;19798683;19800578;19808652;19845758;19849846;19856313;19875613;19880293;19900711;19900843;19902430;19917773;19940860;19941313;19952070;19953886;19956618;19957514;19958642;19996091;19996930;20005366;20015215;20028375;20032994;20075077;20087581;20100010;20109747;20142839;20147963;20150173;20209161;20224778;20229175;20237496;20301297;20306312;20306694;20346216;20398921;20403730;20404810;20412707;20412712;20416210;20427269;20427770;20450585;20462637;20476861;20477811;20487644;20498355;20498359;20503287;20522244;20537998;20554955;20599261;20633650;20654176;20668701;20676092;20677152;20677925;20688398;20701086;20709600;20726328;20729906;20842625;20880066;20886106;20920773;20930173;20933283;20942809;20943459;20952660;20967272;21034673;21059286;21070367;21078762;21085187;21085635;21091665;21107665;21114556;21178008;21209284;21249500;21255537;21255538;21266832;21268019;21278236;21285410;21317396;21352381;21357259;21376048;21381018;21381020;21400500;21423069;21436647;21437244;21447271;21458306;21472440;21481380;21489307;21489891;21490927;21496382;21499129;21533107;21558402;21570917;21607944;21617226;21618521;21642545;21654831;21654845;21670722;21674673;21684226;21693260;21696363;21696572;21708895;21719077;21719142;21726337;21741320;21743493;21746966;21763379;21772667;21791252;21802372;21818290;21832836;21855850;21865090;21876709;21891821;21904560;21912510;21926059;21926327;21934066;21949691;21955384;21974802;22000402;22000667;22007491;22032685;22058032;22077067;22079196;22079987;22093153;22093989;22118340;22124370;22143939;22152480;22155204;22157245;22161558;22166628;22201619;22210907;22214248;22239151;22264504;22287403;22308996;22310634;22312127;22321351;22332874;22341374;22372921;22389297;22391183;22419479;22425700;22431701;22435141;22444300;22446942;22446965;22447883;22491736;22506043;22515293;22529297;22541024;22547705;22569001;22672991;22678915;22696687;22749378;22809231;22813742;22836044;22884069;22949100;22977658;22986453;22988034;22992221;23039885;23098499;23124877;23125413;23129754;23144749;23158993;23161436;23161469;23169781;23178569;23182477;23196741;23201402;23202541;23211717;23223135;23228687;23244505;23260754;23264341;23266046;23282736;23291488;23297791;23299803;23313429;23320781;23340699;23341929;23355538;23359504;23361571;23363776;23378296;23382847;23395819;23396208;23417677;23418928;23438049;23450493;23459079;23483489;23490285;23498308;23502335;23521883;23529308;23543754;23560055;23562195;23566804;23579918;23582052;23588145;23640423;23644754;23707908;23712790;23735638;23747721;23759077;23760912;23773924;23797717;23829892;23888189;23898208;23910692;23911408;23948758;23969200;23973223;23974203;23977174;23993983;23996727;24035934;24040244;24071443;24098530;24127318;24136450;24151582;24152290;24155921;24201117;24214631;24276989;24289115;24291052;24292748;24308961;24315995;24316592;24338714;24354800;24548868;24630394;24636474;24708420;24761979;24852566;24901172;8889548 50943 Q9BZS1 ABBA01046142;ABBA01046143;AC232271;AF235097;AF277993;AJ005891;AK292052;AK299988;AMYH02039324;BC113401;BC113403;BC143785;BC143786;BQ184335;CH471224;DB342786;DQ010327;EF534714;EU855812;GN344065;JA738833;JB259913;NG_007392;NM_001114377;NM_014009;XM_005272610;XM_005272611;XM_006724533 AAG53607;AAI11854;AAI13402;AAI13404;AAI43786;AAI43787;AAY27088;ABQ15210;ACJ46653;ADR82986;BAF84741;BAG61809;CAA06748;CAY55968;CCF77062;CDH61704;EAW50671;EAW50672;EAW50673;NP_001107849;NP_054728;Q9BZS1;XP_005272667;XP_005272668;XP_006724596 Hs.247700 1678085;2217340 FOXP3_3345;RH99318 AIID;IPEX;JM2;MGC141961;MGC141963;PIDX;XPID DIETER;FOXP3delta7;OTTHUMP00000025832;OTTHUMP00000025833;OTTHUMP00000226737;OTTHUMP00000246166;forkhead box protein P3;immune dysregulation, polyendocrinopathy, enteropathy, X-linked;immunodeficiency, polyendocrinopathy, enteropathy, X-linked;scurfin APPROVED protein-coding ENSG00000049768 HGNC:6106 02242 222100;300292;304790 REVIEWED 1346571 FPGS folylpolyglutamate synthase This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014] 9 9 9 q34.1 101215991 101227396 + 130565137 130576799 + 127802858 127814520 + 1580863;6480464;6907045;7242559 16859665 10777604;10964921;11309345;12477932;12663051;1409616;14676127;14702039;16122883;16169100;16344560;16707018;17119116;17286537;17875718;17891500;18381794;18672898;18830263;18842806;18854154;19016697;19093297;19131550;19161160;19636555;19841321;20037791;20453000;20651609;20877624;21093159;21380490;21418912;21890473;21906983;21963094;21987572;22018726;22505724;22698741;22809608;22895141;23000965;24447348;3828320;6934068;7721888;8521387;8662720;8889548;9312158 2356 Q05932;Q5JU20;Q5JU21;Q5JU23 ABBA01043845;ABBA01043846;AK056920;AK295309;AK315523;AL162586;AMYH02021697;AMYH02021698;AY007209;AY007210;AY007211;AY007212;BC007121;BC009901;BC064393;BE302497;BF345926;BG328181;BT006639;CB854085;CH471090;DA987755;DC365273;M98045;NG_023245;NM_001018078;NM_001288803;NM_004957;NR_110170;U14939;XM_005251864;XR_242581;XR_242582 AAA35852;AAA85815;AAH64393;AAL08404;AAL08405;AAL08406;AAL08407;AAP35285;BAG37904;BAG51826;BAH12029;EAW87698;EAW87699;EAW87700;EAW87701;NP_001018088;NP_001275732;NP_004948;Q05932;XP_005251921 Hs.335084 1655821;1776869;2157030 D9S2052;STS-M98045;STS-U40863 OTTHUMP00000022201;OTTHUMP00000022202;OTTHUMP00000022203;OTTHUMP00000022204;folylpoly-gamma-glutamate synthetase;folylpolyglutamate synthase, mitochondrial;folylpolyglutamate synthetase;tetrahydrofolate synthase;tetrahydrofolylpolyglutamate synthase APPROVED protein-coding ENSG00000136877 HGNC:3824 00642 136510 REVIEWED 1602317 FOXRED2 FAD-dependent oxidoreductase domain containing 2 ENCODES a protein that exhibits flavin adenine dinucleotide binding; glycoprotein binding; INVOLVED IN ER-associated ubiquitin-dependent protein catabolic process; FOUND IN endoplasmic reticulum lumen; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; arsenous acid 22 22 22 q12.3 20685379 20705285 - 36883233 36903148 - 36487186 36507101 - 6480464 12477932;12878157;14702039;15461802;16344560;19706418;21906983;21963094;22268729;22797925;23097496;24632291;8125298 80020 A8MUR8;B0QYA2;Q8IWF2 ABBA01055447;AK025714;AK026975;AK091053;AK225347;AK315555;AL022313;AMYH02038322;AU279706;BC015726;BC027716;BC040351;BG054783;CH471095;CR456444;DA409026;NM_001102371;NM_024955;XM_006724320 AAH15726;AAH27716;AAH40351;BAB15227;BAB15610;BAG37931;BAG52270;CAG30330;EAW60105;EAW60106;EAW60107;EAW60108;NP_001095841;NP_079231;Q8IWF2;XP_006724383 Hs.387601 1721491;1760989;2134495;2139777;2177093;5015961;5016478 D15S1477;D22S648;G59599;GDB:434012;SGC32355;SHGC-144936;WI-13725 FLJ23322;FLJ33734 ERFAD;FAD-dependent oxidoreductase domain-containing protein 2;OTTHUMP00000028734;OTTHUMP00000042125;OTTHUMP00000197492;endoplasmic reticulum flavoprotein associated with degradation protein-coding ENSG00000100350 HGNC:26264 08666 613777 VALIDATED 1349447 FRA10B fragile site, BrdU type, rare, fra(10)(q25.2) 9660961 2432 AF053508 HGNC:3830 1319845 FRA10AC1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] 10 10 10 q23.33 89168766 89203452 - 95427640 95462329 - 93667883 93702572 - 6480464 11483580;12477932;14702039;15146197;15164054;15203205;15489334;16169070;16385451;17207965;22365833;24816145 118924 Q70Z53 ABBA01021866;AJ431721;AJ431722;AJ431723;AJ431724;AJ431725;AK090955;AK308861;AK309016;AL133616;AL157396;AMYH02023560;BC018007;BM272089;BX648699;CH471066;CN298116;NG_016832;NM_145246;XM_005269515;XM_005269516;XR_428696;XR_428697 AAH18007;ADQ32087;BAC03556;CAD24470;CAD24471;CAD24472;CAD24473;CAD24474;EAW50055;EAW50056;EAW50057;EAW50058;EAW50059;EAW50060;EAW50061;NP_660289;Q70Z53;XP_005269572;XP_005269573 Hs.586650 1688803;1758561;2128667 RH93805;SHGC-148755;STS-N29485 C10orf4;F26C11.1-like;FRA10A OTTHUMP00000020120;fragile site 10q23.3;rare folic acid-type fragile site, FRA(10)(q23.3), candidate gene 1 APPROVED protein-coding ENSG00000148690 HGNC:1162 12319 608866 REVIEWED 1352804 FRA10C fragile site, BrdU type, common, fra(10)(q21) 2433 HGNC:3831 1342818 FRA10D fragile site, aphidicolin type, common, fra(10)(q22.1) 2434 HGNC:3832 1347403 FRA10A fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) 2431 HGNC:3829 1354211 FRA10F fragile site, aphidicolin type, common, fra(10)(q26.1) 2436 HGNC:3834 1344015 FRA10G fragile site, aphidicolin type, common, fra(10)(q11.2) 2437 HGNC:3835 1347159 FRA11A fragile site, folic acid type, rare, fra(11)(q13.3) 2438 HGNC:3836 1344640 FRA11B fragile site, folic acid type, rare, fra(11)(q23.3) 2439 HGNC:3837 1343180 FRA11C fragile site, aphidicolin type, common, fra(11)(p15.1) 2440 HGNC:3838 1350649 FPR3 formyl peptide receptor 3 ENCODES a protein that exhibits N-formyl peptide receptor activity (inferred); INVOLVED IN cellular component movement (inferred); chemotaxis (inferred); G-protein coupled receptor signaling pathway (inferred); PARTICIPATES IN Staphylococcus aureus infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH paracetamol; (R)-noradrenaline (ortholog); 17alpha-ethynylestradiol (ortholog) 19 19 19 q13.3-q13.4 49347968 49378893 + 52298411 52329334 + 51795158 51826081 + 1580863;6480464;6907045;8554872 11285256;12223529;12410796;12477932;14702039;15187149;15465011;15489334;16002663;1612600;17577578;18577758;19342677;19843937;20237496;20972812;21543323;21709160;21717223;23746112;24067461;24097068;8198572 2359 P25089;Q6L5J4 ABBA01068262;ABBA01068263;AC005946;AC018755;AK123030;AK292541;AMYH02036392;AMYH02036393;AY262690;BC059388;BC069070;BC069593;BC069812;CB996360;CH471135;L14061;M76673;NM_002030 AAA52474;AAA58482;AAC72102;AAH59388;AAH69070;AAH69593;AAH69812;AAP20654;BAF85230;EAW72045;NP_002021;P25089 Hs.445466 1667722;1676128;1677883;1792966;1792968;1792970;1792972;2135467;5492435 PMC17875P1;PMC17875P2;PMC17875P3;PMC17875P4;RH71357;RH79920;RH99009;SHGC-32473;UniSTS:481014 FML2_HUMAN;FMLPY;FPRH1;FPRH2;FPRL2;RMLP-R-I FMLP-R-II;FMLP-related receptor II;N-formyl peptide receptor 3;formyl peptide receptor-like 2 protein-coding ENSG00000187474 HGNC:3828 00648 136539 VALIDATED 1352566 FRA11D fragile site, aphidicolin type, common, fra(11)(p14.2) 2441 HGNC:3839 1351163 FRA11E fragile site, aphidicolin type, common, fra(11)(p13) 2442 HGNC:3840 1350799 FRA10E fragile site, aphidicolin type, common, fra(10)(q25.2) 2435 HGNC:3833 1322039 FPR1 formyl peptide receptor 1 This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010] 19 19 19 q13.4 49298576 49304713 - 52249023 52255150 - 51745770 51751897 - 1580863;6480464;6907045;8554872 10514456;10753626;10820279;10823817;10857861;10861041;10882119;10889468;11023526;11559706;11860029;12218158;12410796;12424254;12477932;12565836;12595898;12902510;1322204;1373134;1445895;15057824;15187149;15195697;15258259;15489334;15625007;15661400;15866865;15928303;16002663;16038804;16114510;1612600;16253958;16530386;16675446;16953235;1712023;17234990;17267694;17442310;17452560;17692291;17927965;18056353;18060741;18253729;18577758;18952127;19037090;19167353;19254133;19414538;19530962;19722801;19843937;19892918;20019777;20056178;20197768;20237496;20930115;21144844;21216225;21254404;21372136;2161213;2176894;21921027;22005393;22094028;22174875;22768936;23012360;23147350;23185575;23238745;23373827;23562731;23873933;24466048;24778024;24778447;2541200;2834384;6129903;7836371;7945424;7947984;8224916;8228254;8663057 2357 M0QZT0;M0R315;P21462 ABBA01068263;ABBA01068264;AC018755;AK314935;AMYH02036392;AY301273;BC005315;BQ016000;BT007429;CB993626;CH471135;L10820;M37128;M60626;M60627;NG_023426;NM_001193306;NM_002029;S49810 AAA16863;AAA35846;AAA35847;AAA36362;AAD14906;AAF87842;AAH05315;AAP36097;AAP58403;BAG37441;EAW72040;EAW72041;EAW72042;NP_001180235;NP_002020;P21462 Hs.753 1671629;1673479;2147574 D19S1083;RH17955;RH69009 FMLP;FPR N-formyl peptide receptor;N-formylpeptide chemoattractant receptor;fMLP receptor;fMet-Leu-Phe receptor APPROVED protein-coding HGNC:3826 00646 136537 REVIEWED 1345590 FRA11F fragile site, aphidicolin type, common, fra(11)(q14.2) 2443 HGNC:3841 1352857 FRA11I fragile site, distamycin A type, rare, fra(11)(p15.1) 2447 HGNC:3844 1352275 FRA12A fragile site, folic acid type, rare, fra(12)(q13.1) ASSOCIATED WITH Mental Retardation, Fra12a Type (inferred) 7240710 2448 HGNC:3845 136630 1345607 FRA12C fragile site, BrdU type, rare, fra(12)(q24.2) 2450 HGNC:3847 1342894 FRA12D fragile site, folic acid type, rare, fra(12)(q24.13) 2451 HGNC:3848 1351364 FRA12E fragile site, aphidicolin type, common, fra(12)(q24) 2452 HGNC:3849 1316624 FPR2 formyl peptide receptor 2 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); N-formyl peptide receptor activity (inferred); INVOLVED IN cell adhesion (inferred); cellular component movement (inferred); chemotaxis (inferred); PARTICIPATES IN Staphylococcus aureus infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH acetylsalicylic acid; cobalt dichloride; methotrexate 19 19 19 q13.3-q13.4 49314014 49323339 + 52264453 52273779 + 51760925 51770526 + 1580863;6480464;6907045;8554872 10438703;10748237;10872839;10964542;11015447;11063592;12377951;12393391;12410796;12456400;12477932;12902510;1373134;1374236;14662886;15057824;1511907;15187149;15188355;15224191;15465011;15489334;15625007;15670157;15809093;15829413;1612600;16493055;16754659;16973129;17015746;17184966;17234990;17403678;17460114;17651798;17687636;17692291;17727628;17918787;18174366;18583575;18652801;18768891;19282028;19381066;19553323;19751275;19796867;19811292;19843937;20177146;20237496;20542250;20642210;20930115;21183593;21299846;21398608;21465531;21499310;21543323;22005393;22131270;22246625;22377711;22610094;22706076;22734147;22768166;23147350;23219934;23386607;23500463;23562731;23583448;23643932;23839065;24041034;24067461;24108355;24166736;24259417;24285541;24358628;24617769;7505609;8006586;8198572;9054386;9151906;9547339 2358 AAB23104;M0QXD3;M0QZ89;M0R222;P25090 ABBA01068263;AC018755;AF054013;AK290557;AMYH02036392;AY225226;BC029125;BC071722;BM922150;CH471135;D10922;M76672;M84562;M88107;NM_001005738;NM_001462;U81501;X63819;XM_006723120 AAA52473;AAA58481;AAA60070;AAB23104;AAB51133;AAC13684;AAF87844;AAH29125;AAH71722;AAO67711;ABM83031;ABM86225;BAA01720;BAF83246;CAA45319;EAW72043;EAW72044;NP_001005738;NP_001453;P25090;XP_006723183 Hs.99855 1662646;1673311;1795866;2147958 D19S831;FPRL1_657;RH11725;STS-R79948 ALXR;FMLP-R-I;FMLP-R-II;FMLPX;FPR2A;FPRH1;FPRH2;FPRL1;HM63;LXA4R;RFP FMLP-related receptor I;LXA4 receptor;N-formyl peptide receptor 2;formyl peptide receptor-like 1;lipoxin A4 receptor (formyl peptide receptor related) protein-coding ENSG00000171049 HGNC:3827 00647 136538 VALIDATED 1352621 FRA13A fragile site, aphidicolin type, common, fra(13)(q13.2) 2453 HGNC:3850 1353526 FRA11H fragile site, aphidicolin type, common, fra(11)(q13) 2446 HGNC:3843 1343327 FRA13B fragile site, BrdU type, common, fra(13)(q21) 2454 HGNC:3851 1345482 FRA13C fragile site, aphidicolin type, common, fra(13)(q21.2) 2455 HGNC:3852 1351244 FRA13D fragile site, aphidicolin type, common, fra(13)(q32) 2456 HGNC:3853 1352797 FRA14B fragile site, aphidicolin type, common, fra(14)(q23) 2457 HGNC:3854 1342515 FRA14C fragile site, aphidicolin type, common, fra(14)(q24.1) 2458 HGNC:3855 1350433 FRA16A fragile site, folic acid type, rare, fra(16)(p13.11) 2460 HGNC:3857 1349589 FRA12B fragile site, aphidicolin type, common, fra(12)(q21.3) 2449 HGNC:3846 1345282 FRA16C fragile site, aphidicolin type, common, fra(16)(q22.1) 2462 HGNC:3859 1353014 FRA16B fragile site, distamycin A type, rare, fra(16)(q22.1) 2461 HGNC:3858 1347785 FRA16D fragile site, aphidicolin type, common, fra(16)(q23.2) 2463 HGNC:3860 1344099 FRA11G fragile site, aphidicolin type, common, fra(11)(q23.3) 2445 HGNC:3842 1348627 FRA17A fragile site, distamycin A type, rare, fra(17)(p12) 2465 HGNC:3862 1345131 FRA17B fragile site, aphidicolin type, common, fra(17)(q23.1) 2466 HGNC:3863 1351731 FRA16E fragile site, distamycin A type, rare, fra(16)(p12.1) 2464 HGNC:3861 1348425 FRA18B fragile site, aphidicolin type, common, fra(18)(q21.3) 2468 HGNC:3865 1342689 FRA18A fragile site, aphidicolin type, common, fra(18)(q12.2) 2467 HGNC:3864 1348856 FRA18C fragile site, folic acid type, rare, fra(18)(q22.1) 116710 HGNC:16929 1345549 FRA19A fragile site, 5-azacytidine type, common, fra(19)(q13) 2579891;4077049 2469 HGNC:3866 1349098 FRA19B fragile site, folic acid type, rare, fra(19)(p13) 2470 HGNC:3867 1349781 FRA1A fragile site, aphidicolin type, common, fra(1)(p36) 2360 HGNC:3868 1344738 FRA1C fragile site, aphidicolin type, common, fra(1)(p31.2) 2362 HGNC:3870 1348098 FRA1D fragile site, aphidicolin type, common, fra(1)(p22) 2363 HGNC:3871 1351376 FRA1E fragile site, aphidicolin type, common, fra(1)(p21.2) 2364 HGNC:3872 1342830 FRA1F fragile site, aphidicolin type, common, fra(1)(q21) 2365 HGNC:3873 1354217 FRA1G fragile site, aphidicolin type, common, fra(1)(q25.1) 2366 HGNC:3874 1345516 FRA1H fragile site, 5-azacytidine type, common, fra(1)(q42) 9763679 2367 HGNC:3875 1353010 FRA1B fragile site, aphidicolin type, common, fra(1)(p32) 2361 HGNC:3869 1352507 FRA1J fragile site, 5-azacytidine type, common, fra(1)(q12) 2369 HGNC:3877 1348788 FRA1I fragile site, aphidicolin type, common, fra(1)(q44) 2368 HGNC:3876 1343534 FRA1K fragile site, aphidicolin type, common, fra(1)(q31) 2370 HGNC:3878 1346848 FRA1L fragile site, aphidicolin type, common, fra(1)(p31) 2371 HGNC:3879 1350410 FRA1M fragile site, folic acid type, rare, fra(1)(p21.3) 1865478 2372 HGNC:3880 1346089 FRA20A fragile site, folic acid type, rare, fra(20)(p11.23) 2471 HGNC:3881 1343465 FRA20B fragile site, aphidicolin type, common, fra(20)(p12.2) 2472 HGNC:3882 1349323 FRA15A fragile site, aphidicolin type, common, fra(15)(q22) 2459 HGNC:3856 1345115 FRA22B fragile site, aphidicolin type, common, fra(22)(q12.2) 2474 HGNC:3884 1347807 FRA2C fragile site, aphidicolin type, common, fra(2)(p24.2) 2375 HGNC:3887 1345203 FRA2D fragile site, aphidicolin type, common, fra(2)(p16.2) 2376 HGNC:3888 1351711 FRA2E fragile site, aphidicolin type, common, fra(2)(p13) 2377 HGNC:3889 1346489 FRA2G fragile site, aphidicolin type, common, fra(2)(q31) 2379 HGNC:3891 1351861 FOXP2 forkhead box P2 This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 7 7 7 q31 108532810 109140335 + 113726365 114333827 + 114086310 114693772 + 1580863;6480464;7240710;8554872;8699517 10880297;11358962;11586359;11872605;11894222;12060812;12189486;12192408;12477932;12524352;12655497;12690205;12721956;12853948;12876151;14555953;14701752;14702039;14997560;15056695;15108192;15653268;15685218;15737702;15877281;15948071;15998549;16344560;16407075;16538183;16984964;17033973;17196932;17330859;17999357;17999362;18029348;18316164;18413354;18987363;19018235;19058789;19240061;19304338;19490887;19490899;19608635;19797137;19907493;19913121;20185820;20237496;20628086;20634891;20649982;20858596;20858950;20923434;20950786;21111790;21334420;21576028;21652119;21684252;21832174;21897444;22105961;22129783;22144704;22262880;22404659;22434823;22504457;22936669;22939624;23197593;23277129;2332125;23382691;23426656;23559350;23602712;23911943;24179158;24360035;24722188;9225980;9770548 93986 A8MTU2;A8MUV4;B7ZLK5;C9JQP8;F8WDL6;O15409;Q0PRL4;Q75MZ5;Q8N6B5;Q8N6B6;X5D2H2 ABBA01057826;ABBA01057827;ABBA01057828;ABBA01057829;ABBA01057830;ABBA01057831;AC003992;AC020606;AC073626;AC074000;AC092148;AC092606;AF086040;AF337817;AF454830;AF467252;AF467253;AF467254;AF467255;AF467256;AF467257;AF467258;AF467259;AF493430;AF515031;AF515032;AF515033;AF515034;AF515035;AF515036;AF515037;AF515038;AF515039;AF515040;AF515041;AF515042;AF515043;AF515044;AF515045;AF515046;AF515047;AF515048;AF515049;AF515050;AI369947;AK131266;AK296957;AMYH02016601;AMYH02016602;AMYH02016603;AMYH02016604;AMYH02016605;AMYH02016606;AY144615;BC018016;BC126104;BC143866;BC143867;CH236947;CH471070;CR749236;DA400243;DQ778626;KF458557;KF458560;KF458565;KJ534839;KJ535079;KJ535086;NG_007491;NM_001172766;NM_001172767;NM_014491;NM_148898;NM_148899;NM_148900;NR_033766;NR_033767;XM_006716179;XM_006716180;XR_428189 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;REN103325;REN103326;REN103327;REN103328;REN103329;REN103330;REN103331;REN103332;REN103333;REN103334;REN103335;REN103336;REN103337;REN103338;REN103339;REN103340;REN103341;REN103342;REN103343;REN103344;REN103345;REN103346;REN103347;REN103348;REN103349;REN103350;REN103351;REN103352;REN103353;REN103354;REN103355;REN103356;REN103357;REN103358;REN103359;REN103360;REN103361;REN103362;REN103363;REN103364;REN103365;REN103366;REN103367;REN103368;REN103369;REN103370;REN103371;REN103372;REN103373;REN103374;REN103375;REN103376;REN103377;REN103378;REN103379;REN103380;REN103381;REN103382;REN103383;REN103384;REN103385;REN103386;REN103387;REN103388;REN103389;REN103390;REN103391;REN103392;REN103393;REN103394;REN103395;REN103396;REN103397;REN103398;REN103399;REN103400;REN103401;REN103402;REN103403;REN103404;REN103405;REN103406;REN103407;REN103408;REN103409;REN103410;REN103411;REN103412;REN103413;REN103414;REN103415;REN103416;REN103417;REN103418;REN103419;REN103420;REN103421;REN103422;REN103423;REN103424;REN103425;REN103426;REN103427;REN103428;REN103429;REN103430;REN103431;REN103432;REN103433;REN103434;REN103435;REN103436;RH118613;RH119734;RH121856;RH26932;RH66678;RH80371;SGC33824;SHGC-108054;SHGC-78713;SHGC-82073;SHGC-82682;SHGC-82867;stSG611298;stSG611299;stSG611300;stSG611301;stSG611302;stSG611303;stSG611304;stSG611306;stSG611307;stSG611308;stSG611309;stSG611310;stSG611311;stSG611312;stSG611313;stSG611314;stSG611318;stSG611319;stSG611320;stSG611321;stSG611322;stSG611323;stSG611324;stSG611325;stSG611326;stSG611327;stSG611329;stSG611331;stSG611332;stSG611334;stSG611335;stSG611336;stSG611337;stSG611338;stSG611340;stSG611343;stSG611344;stSG611348;stSG611349;stSG611350;stSG611351;stSG611352;stSG611354;stSG611355;stSG611356;stSG611357;stSG611358;stSG611362;stSG611363;stSG611368;stSG611369;stSG611370;stSG611371;stSG611372;stSG611373;stSG611374;stSG611375;stSG611376;stSG611377;stSG611378;stSG611379;stSG611380;stSG611381;stSG611382;stSG611383;stSG611384;stSG611385;stSG611386;stSG611387;stSG611388;stSG611389;stSG611390;stSG611391;stSG611392;stSG611393;stSG611394;stSG611395;stSG611396;stSG611397;stSG611398;stSG611399;stSG611400;stSG611401;stSG611402;stSG611403;stSG611404;stSG611405;stSG611406;stSG611407;stSG611408;stSG611409;stSG611410;stSG611411;stSG611413;stSG611414;stSG611415;stSG611416;stSG611418;stSG611419;stSG611420;stSG611421;stSG611422;stSG611423;stSG611424;stSG611425;stSG611426;stSG611427;stSG611428;stSG611429;stSG611430;stSG611431;stSG611432;stSG611433;stSG611434;stSG611435;stSG611436;stSG611437;stSG611438;stSG611439;stSG611440;stSG611442;stSG611443;stSG611444;stSG611445;stSG611446;stSG611447;stSG611448;stSG611449;stSG611450;stSG611451;stSG611452;stSG611453;stSG611454;stSG611455;stSG611456;stSG611457;stSG611458;stSG611459;stSG611460;stSG611461;stSG611462;stSG611463;stSG611464;stSG611465;stSG611466;stSG611467;stSG611469;stSG611470;stSG611471;stSG611472;stSG611473;stSG611474;stSG611475;stSG611476;stSG611477;stSG611478;stSG611480;stSG611482;stSG611483;stSG611484;stSG611485;stSG611486;stSG611487;stSG611488;stSG611489;stSG611490;stSG611491;stSG611492;stSG611493;stSG611494;stSG611495;stSG611496;stSG611497;stSG611498;stSG611499;stSG611500;stSG611502;stSG611503;stSG611504;stSG611505;stSG611506;stSG611507;stSG611508;stSG611509;stSG611510;stSG611511;stSG611512;stSG611513;stSG611514;stSG611515;stSG611516;stSG611517;stSG611518;stSG611519;stSG611520;stSG611521;stSG611522 CAGH44;DKFZp686H1726;SPCH1;TNRC10 CAG repeat protein 44;OTTHUMP00000024749;OTTHUMP00000067771;OTTHUMP00000067772;OTTHUMP00000196932;OTTHUMP00000196934;OTTHUMP00000196935;OTTHUMP00000198800;OTTHUMP00000214601;forkhead box protein P2;forkhead/winged-helix transcription factor;trinucleotide repeat containing 10;trinucleotide repeat-containing gene 10 protein APPROVED protein-coding ENSG00000128573 HGNC:13875 05611 602081;605317 REVIEWED 1343904 FRA2H fragile site, aphidicolin type, common, fra(2)(q32.1) 2380 HGNC:3892 1347434 FRA22A fragile site, folic acid type, rare, fra(22)(q13) 2473 HGNC:3883 1342749 FRA2I fragile site, aphidicolin type, common, fra(2)(q33) 2381 HGNC:3893 1352028 FRA2J fragile site, aphidicolin type, common, fra(2)(q37.3) 2382 HGNC:3894 1349565 FRA2K fragile site, folic acid type, rare, fra(2)(q22.3) 2383 HGNC:3895 1344463 FRA3C fragile site, aphidicolin type, common, fra(3)(q27) 2386 HGNC:3898 1346264 FRA3D fragile site, aphidicolin type, common, fra(3)(q25) 2387 HGNC:3899 1344517 FRA4A fragile site, aphidicolin type, common, fra(4)(p16.1) 2388 HGNC:3900 1346932 FRA3B fragile site, aphidicolin type, common, fra(3)(p14.2) 3864602 HGNC:3897 1349009 FRA2F fragile site, aphidicolin type, common, fra(2)(q21.3) 2378 HGNC:3890 1345134 FRA3A fragile site, aphidicolin type, common, fra(3)(p24.2) 2384 HGNC:3896 1349862 FRA4C fragile site, aphidicolin type, common, fra(4)(q31.1) 2390 HGNC:3902 1350839 FRA4E fragile site, unclassified, common, fra(4)(q27) 2392 HGNC:3904 1346962 FRA4B fragile site, BrdU type, common, fra(4)(q12) 2389 HGNC:3901 1349065 FRA5A fragile site, BrdU type, common, fra(5)(p13) 2393 HGNC:3905 1351685 FRA5B fragile site, BrdU type, common, fra(5)(q15) 2394 HGNC:3906 1347830 FRA5C fragile site, aphidicolin type, common, fra(5)(q31.1) 2396 HGNC:3907 1353659 FRA2A fragile site, folic acid type, rare, fra(2)(q11.2) 2373 HGNC:3885 1348925 FRA5D fragile site, aphidicolin type, common, fra(5)(q15) 2397 HGNC:3908 1353291 FRA5E fragile site, aphidicolin type, common, fra(5)(p14) 2398 HGNC:3909 1351475 FRA5G fragile site, folic acid type, rare, fra(5)(q35) 2213847 2400 HGNC:3911 1350567 FRA6A fragile site, folic acid type, rare, fra(6)(p23) 2401 HGNC:3912 1347907 FRA6B fragile site, aphidicolin type, common, fra(6)(p25.1) 2402 HGNC:3913 1350381 FRA2B fragile site, folic acid type, rare, fra(2)(q13) 2374 HGNC:3886 1343775 FRA6D fragile site, BrdU type, common, fra(6)(q13) 2404 HGNC:3915 1346301 FRA6C fragile site, aphidicolin type, common, fra(6)(p22.2) 2403 HGNC:3914 1348809 FRA6E fragile site, aphidicolin type, common, fra(6)(q26) 2405 HGNC:3916 1346456 FRA6F fragile site, aphidicolin type, common, fra(6)(q21) 2406 HGNC:3917 1345202 FRA6G fragile site, aphidicolin type, common, fra(6)(q15) 2407 HGNC:3918 1352389 FRA7A fragile site, folic acid type, rare, fra(7)(p11.2) 2408 HGNC:3919 1342909 FRA7B fragile site, aphidicolin type, common, fra(7)(p22) 2409 HGNC:3920 1351450 FRA7C fragile site, aphidicolin type, common, fra(7)(p14.2) 2410 HGNC:3921 1354027 FRA7D fragile site, aphidicolin type, common, fra(7)(p13) 2411 HGNC:3922 1344601 FRA7E fragile site, aphidicolin type, common, fra(7)(q21.2) 2412 HGNC:3923 1347091 FRA7G fragile site, aphidicolin type, common, fra(7)(q31.2) 2414 HGNC:3925 1352826 FRA7H fragile site, aphidicolin type, common, fra(7)(q32.3) 2415 HGNC:3926 1342938 FRA7I fragile site, aphidicolin type, common, fra(7)(q36) 2416 HGNC:3927 1345597 FRA7J fragile site, aphidicolin type, common, fra(7)(q11) 2417 HGNC:3928 1350581 FRA8A fragile site, folic acid type, rare, fra(8)(q22.3) 2418 HGNC:3929 1347164 FRA8B fragile site, aphidicolin type, common, fra(8)(q22.1) 2419 HGNC:3930 1347732 FRA8E fragile site, distamycin A type, rare, fra(8)(q24.1) 2423 HGNC:3933 1352430 FRA4D fragile site, aphidicolin type, common, fra(4)(p15) 2391 HGNC:3903 1345060 FRA8F fragile site, unclassified, rare, fra(8)(q13) 2424 HGNC:3934 1345075 FRA9A fragile site, folic acid type, rare, fra(9)(p21) 2425 HGNC:3935 1354504 FRA9B fragile site, folic acid type, rare, fra(9)(q32) 2426 HGNC:3936 1350706 FRA9C fragile site, BrdU type, common, fra(9)(p21) 2427 HGNC:3937 1347894 FRA9D fragile site, aphidicolin type, common, fra(9)(q22.1) 2428 HGNC:3938 1346653 FRA8C fragile site, aphidicolin type, common, fra(8)(q24.1) 2421 HGNC:3931 1347078 FRA7F fragile site, aphidicolin type, common, fra(7)(q22) 2413 HGNC:3924 1343341 FRA9E fragile site, aphidicolin type, common, fra(9)(q32) 2429 HGNC:3939 1352755 FRA9F fragile site, 5-azacytidine type, common, fra(9)(q12) 2430 HGNC:3940 1351085 FRAXA fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation) ASSOCIATED WITH Fragile X Syndrome (inferred); Fragile X Tremor Ataxia Syndrome (inferred); Primary Ovarian Insufficiency (inferred) 7240710 2477 HGNC:3945 300623;300624;311360 1345413 FRA5F fragile site, aphidicolin type, common, fra(5)(q21) 2399 HGNC:3910 1344516 FRAXC fragile site, aphidicolin type, common, fra(X)(q22.1) 2479 HGNC:3947 1347676 FRAXB fragile site, aphidicolin type, common, fra(X)(p22.31) 2478 HGNC:3946 1353126 FRAXD fragile site, aphidicolin type, common, fra(X)(q27.2) 2480 HGNC:3948 1343410 FRA8D fragile site, aphidicolin type, common, fra(8)(q24.3) 2422 HGNC:3932 1347191 FRAXE fragile site, folic acid type, rare, fra(X)(q28) ASSOCIATED WITH Fragile X Syndrome (inferred) 7240710 1605195 2481 HGNC:3949 309548 1343853 FRAXF fragile site, folic acid type, rare, fra(X)(q28) 7874164;8499907 2482 L35600 HGNC:3950 1345286 FRCL1 frc, fringe-like 1 (Drosophila) 387073 HGNC:21116 1351561 FRDA2 Friedreich ataxia 2 ASSOCIATED WITH Friedreich Ataxia 2 (inferred) 7240710 10735274;11523563 2420 1338930 D9S43 HGNC:3952 601992 1315178 FRAS1 Fraser extracellular matrix complex subunit 1 This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 q21.21 76280569 76761461 + 78978724 79465423 + 78056968 78544269 + 1598960;6480464;7240710;8554872;8699517 12766769 10819331;12477932;12766770;14702039;15489334;16344560;17654118;18155042;18671281;19896111;20467438;20602751;20634891;21139048;21900877;22029163;22283518;23473829;23703922;3118036 80144 D6RCP6;H0Y8V2;H0Y930;H0Y9A6;H0Y9C9;Q86XX4 AB040933;ABBA01063377;ABBA01063378;ABBA01063379;ABBA01063380;ABBA01063381;AC093652;AC093886;AC093897;AC104808;AC131945;AJ512501;AK025684;AK027833;AK092082;AK096838;AL157471;AL831853;AL833581;AMYH02009532;AMYH02009533;AMYH02009534;AMYH02009535;AMYH02009536;AMYH02009537;AMYH02009538;AMYH02009539;AMYH02009540;AMYH02009541;AMYH02009542;AMYH02009543;BC009254;BC020192;BC052281;BC064487;BC094853;BC131820;BC131821;BX647420;BX647949;CH471057;CR627393;DA725113;DA881824;KF457783;NG_015812;NM_001166133;NM_025074;XM_006714314;XM_006714315;XM_006714316;XM_006714317 AAH20192;AAH52281;AAH64487;AAI31821;AAI31822;AAY41027;BAA96024;BAB15216;BAB55399;CAD38554;CAD54734;CAH10488;CAH10691;EAX05821;NP_001159605;NP_079350;Q86XX4;XP_006714377;XP_006714378;XP_006714379;XP_006714380 Hs.369448 1339024;1664742;1695546;1700114;1726951;1735426;1739205;1756057;1775359;1784922;1784952;1785002;1850871;2132292;2140572;2148150;2152635;2168370;2174836;2179099;2180523;5015810;5094426 D3S3275;D4S2602E;D4S2630;G33791;G34289;G34409;G54790;G62721;GDB:182516;RH103670;RH15875;RH70795;SGC32653;SHGC-107365;SHGC-140640;SHGC-142864;SHGC-14424;SHGC-16556;SHGC-24698;SHGC-60067;SHGC-68715;SHGC4-1524;SHGC4-1840 DKFZp686I05113;DKFZp686P08111;FLJ14927;FLJ22031;KIAA1500 Fraser syndrome 1;OTTHUMP00000219178;extracellular matrix protein FRAS1 APPROVED protein-coding ENSG00000138759 HGNC:19185 06382 219000;607830 REVIEWED 6481285 FREM2-AS1 FREM2 antisense RNA 1 q13.3 100874073 AL354819;CK903491 Hs.253994 APPROVED ncrna HGNC:39964 1343703 FREM3 FRAS1 related extracellular matrix 3 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN cell communication (inferred); FOUND IN extracellular space; basement membrane (ortholog); INTERACTS WITH (R)-lipoic acid (ortholog); 17alpha-ethynylestradiol (ortholog); 2,2',5,5'-tetrachlorobiphenyl (ortholog) 4 4 4 q31.21 141828573 141951867 - 144498560 144621828 - 143577407 143700675 - 6480464 15345741;15815621;18661360;22337703 166752 P0C091 ABBA01070003;ABBA01070004;AC139713;AI184955;AMYH02010235;AMYH02010236;AW953229;BE223071;DN831271;DR007885;DR731220;JA738645;NM_001168235;R44783 CCF76975;NP_001161707;P0C091 Hs.252714 2171181 SHGC-59692 FRAS1-related extracellular matrix protein 3;OTTHUMP00000220417 protein-coding ENSG00000183090 HGNC:25172 608946 VALIDATED 1351313 FRDAP Friedreich ataxia pseudogene 14 14 14 q24.3 58563991 58564875 - 78525843 78526727 - 78059500 78060384 - 122942 ABBA01030639;AC007955;AL049832;AMYH02029585;NG_002485 pseudo HGNC:20012 INFERRED 1606665 FRG1B FSHD region gene 1 family, member B INTERACTS WITH formaldehyde; tunicamycin 12 20 20 q11.21 51893621 51915752 - 29611879 29634007 + 30377203 30399331 + 6480464 11780052;12477932;14702039;19586940;21832049 284802 ABBA01015424;AL441988;AMYH02036891;BC062724;BC062743;BC095491;CH471240;NR_003579 EAW80443;EAW80444;Q9BZ01 Hs.653099 C20orf80;MGC72104;bA348I14.2 pseudo ENSG00000149531 HGNC:15792 17570 PROVISIONAL 1320772 FRG1 FSHD region gene 1 This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008] 4 4 4 q35 188156485 188178883 + 190861974 190884360 + 189940819 189963205 + 1580863;6480464;8554872 10512680;11991638;12477932;12665801;15060122;15489334;15635413;16341202;17207965;18852887;19097195;19471022;19607661;19615732;20301616;20970242;21139048;21145461;21603621;21695143;21699900;22365833;22505724;23000965;23166591;23720823;24024966;24163370;8733123;9132141 2483 E9PI42;E9PLY7;E9PRR7;J3KSQ7;Q14331 AA749391;ABBA01015939;AC226374;AF146191;AK291890;AMYH02010728;BC053997;BG426031;CH471056;L76159;NG_008142;NM_004477;XM_005262879;XM_005262880;XM_006714166;XM_006725445;XM_006725446;XM_006725447 AAA95939;AAD46768;AAH53997;ADQ32541;BAF84579;EAX04600;NP_004468;Q14331;XP_005262936;XP_005262937;XP_006714229;XP_006725508;XP_006725509;XP_006725510 Hs.203772 1644345;5492157 BARC0069;SGC38233 FRG1A;FSG1 FSHD region gene 1 protein;OTTHUMP00000217759;facioscapulohumeral muscular dystrophy region gene-1 APPROVED protein-coding ENSG00000109536 HGNC:3954 03176 601278 REVIEWED 1350986 FRAT2 frequently rearranged in advanced T-cell lymphomas 2 The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008] 10 10 10 q24.1 92830738 92832937 - 99092254 99094458 - 97332497 97334701 - 1580863;6480464;6907045 11237732;11738041;12095675;12477932;15164054;15489334;15522877;17433504;20613673;23455922;8889548;9635432 23401 O75474;Q53XP8 AB045118;ABBA01021810;AF062739;AL355490;AMYH02023606;BC020165;BT009770;BU675503;CH471066;DR006612;NM_012083 AAC39786;AAH20165;AAP88772;ABM86483;BAB39165;EAW49949;NP_036215;O75474 Hs.140720 1697198;1797546 FRAT2_1790;RH102090 FRAT-2;MGC10562 GSK-3 binding protein FRAT2;GSK-3-binding protein FRAT2;OTTHUMP00000020202 APPROVED protein-coding ENSG00000181274 HGNC:16048 05419 605006 REVIEWED 1604648 FRAT1 frequently rearranged in advanced T-cell lymphomas 1 The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq, Oct 2008] 10 10 10 q24.1 92817506 92820157 + 99079022 99081672 + 97319265 97321915 + 6480464;6907045 10428961;11445844;11738041;11894125;12095675;12477932;12556519;12805274;15164054;15489334;16385451;16479254;16982607;18498136;20041315;20096670;21818639;21988832;22528942;23455922;23602568;23613813;9034327 10023 Q92837 AB074890;ABBA01021811;ABBA01021812;AK307245;AL355490;AMYH02023606;AY271248;BC034476;BE041458;CH471066;NM_005479;U58975 AAB97096;AAH34476;BAB86352;EAW49950;EAW49951;NP_005470;Q92837 Hs.126057 1685145;1776309;1795868 FRAT1_113;RH71241;RH99329 FLJ97193;FRAT-1 OTTHUMP00000020201;proto-oncogene FRAT1 APPROVED protein-coding ENSG00000165879 HGNC:3944 03935 602503 REVIEWED 1345384 FREM1 FRAS1 related extracellular matrix 1 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] 9 9 9 p22.3 14668102 14844502 - 14734664 14910993 - 14734666 14910995 - 6480464;7240710;8554872 12477932;12838346;14702039;15146197;15164053;15345741;15489334;15878328;19732862;19893584;19940113;20301721;20379614;20562859;21507892;21931569;22262840;22690109;22876578;22915813;23221805;23401257;8889548 158326 F8WE85;Q5H8C1 AB160987;ABBA01065294;ABBA01065295;ABBA01065296;ABBA01065297;AK054690;AK058190;AL354672;AL390732;AL512643;AMYH02019198;AMYH02019199;AMYH02019200;BC031064;BU677942;BX537574;BX641104;BX648240;CH471071;CN425447;DN992860;NG_017005;NM_001177704;NM_144966;XM_005251382;XM_005251383;XM_005251384;XM_006716723;XM_006716724;XM_006716725;XM_006716726;XM_006716727;XM_006716728;XM_006716729 AAH31064;AAI72226;BAB71709;BAD89015;CAE46048;EAW58688;EAW58689;EAW58690;NP_001171175;NP_659403;Q5H8C1;XP_005251439;XP_005251440;XP_005251441;XP_006716786;XP_006716787;XP_006716788;XP_006716789;XP_006716790;XP_006716791;XP_006716792 Hs.50850 1337670;1708348;1710322;1710620;1721263;1722299;1852756;2116954;2140893;2144076;2169587;2180277;5015619;5022578;5094336 D11S3114;D1S1423;D9S235;G29230;G54719;G59628;G60064;RH35821;RH46442;RH47057;SHGC-81109;SHGC-82406;SHGC-84099;STS-R98799;STS-W94882 BNAR;C9orf143;C9orf145;C9orf154;FLJ25461;MOTA;QBRICK;RP11-439N12.3;TILRR;TRIGNO2 FRAS1-related extracellular matrix protein 1;OTTHUMP00000021062;OTTHUMP00000207736;extracellular matrix protein QBRICK APPROVED protein-coding ENSG00000164946 HGNC:23399 09865 248450;608944;608980;614485 REVIEWED 1352660 FRMD1 FERM domain containing 1 FOUND IN cytoskeleton (inferred) 6 6 6 q27 169174621 169197929 - 168456425 168482237 - 168055745 168081557 - 1580863 12477932;14574404;14702039;22610502;23527680 79981 D6RB43;H0Y9A3;Q8N878 ABBA01000413;AK026268;AK074110;AK097179;AK097579;AK125963;AK303194;AK303407;AK316478;AL133077;AL589733;AMYH02014988;BC137144;CH471051;DB019858;NM_001122841;NM_024919;NR_110312;XM_006715567 AAI37145;BAB15421;BAB84936;BAC04972;BAG53488;BAH13916;BAH13955;BAH14849;CAB61397;EAW47471;EAW47472;NP_001116313;NP_079195;Q8N878;XP_006715630 Hs.266746;Hs.739361 5015619 D11S3114 DKFZp434O0117;FLJ00181;FLJ22615;FLJ40260;bA164L23.1 FERM domain-containing protein 1;OTTHUMP00000219079;OTTHUMP00000219098 protein-coding ENSG00000153303 HGNC:21240 10997 VALIDATED 1347992 FREM2 FRAS1 related extracellular matrix protein 2 This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014] 13 13 13 q13.3 20314868 20515290 + 39261173 39461268 + 38687036 38887131 + 6480464;7240710;8554872;8699517 10737800;12477932;14702039;15057823;15146197;15345741;15838507;16335952;16880404;18203166;18671281;21875946;21900877;21993531;22031191;22538188;24583282;24700879 341640 Q5SZK8 ABBA01021319;ABBA01021320;ABBA01021321;AC017111;AK127571;AK127633;AL354819;AL590007;AL708377;AMYH02027893;BG991015;BN000687;BX538150;BX538304;BX640686;CH471075;CN291155;CR933724;KF455770;NG_008125;NM_207361 AAI72230;BAC87040;CAD98036;CAD98088;CAE45813;CAH56764;CAI46253;EAX08607;EAX08608;NP_997244;Q5SZK8 Hs.253994 1727735;1737463 D13S1017;G63132 DKFZp686J0811;DKFZp781I048;KIAA1074 ECM3 homolog;FRAS1-related extracellular matrix protein 2;OTTHUMP00000018288 APPROVED protein-coding ENSG00000150893 HGNC:25396 10602 219000;608945 REVIEWED 1642830 FRG2B FSHD region gene 2 family, member B ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cadmium atom; indole-3-methanol (ortholog) 10 10 q26.3 135438603 135440299 - 133625099 133626795 - 6480464;8554872 11829491;15164054;15520407 441581 Q96QU4 ABBA01006222;AC245077;AL731696;AY028079;AY744466;NM_001080998 AAK21977;AAV30885;NP_001074467;Q96QU4 Hs.690471 1709944 SHGC-82238 FSHD region gene 2 protein family member B;HSA10-FRG2;OTTHUMP00000020815;protein FRG2-like-1 protein-coding ENSG00000225899 HGNC:33518 PROVISIONAL 1606060 FRG2 FSHD region gene 2 FOUND IN nucleus (inferred); INTERACTS WITH indole-3-methanol (ortholog) 4 4 4 q35 1446 2328 + 190945522 190948412 - 190024367 190027257 - 6480464 11829491;12176321;12477932;15520407;20975055;21695143 448831 Q64ET8 AF146191;AMYH02010728;AY714545;BC144572;CT476828;NM_001005217;NM_001286820 AAI44573;AAU14220;NP_001005217;NP_001273749;Q64ET8 Hs.626907 1709944 SHGC-82238 FRG2A FSHD region gene 2 protein;OTTHUMP00000218066;OTTHUMP00000218072 protein-coding ENSG00000205097 HGNC:19136 16418 609032 VALIDATED 734122 FRK fyn-related Src family tyrosine kinase The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008] 6 6 6 q21-q22.3 117005260 117124941 - 116262691 116397360 - 115941528 116100730 - 1580863;6480464;8554872 10229084;12477932;12569567;12725532;12750000;15082191;15489334;15951569;19056867;19345329;20686565;20800603;21074287;21665990;22745667;22790444;22939624;23263486;23267173;23318459;23455922;24097068;24735922;7510261;7664264;7696183;8099900 2444 P42685 ABBA01026047;ABBA01026048;ABBA01026049;AK302264;AK313314;AL121963;AL357141;AMYH02014345;AMYH02014346;AMYH02014347;AMYH02014348;AMYH02014349;BC012916;CH471051;NM_002031;U00803;U22322;XM_005266880;XM_005266881;XM_005266882 AAA18284;AAC50116;AAH12916;ABM85569;BAG36119;BAG63611;EAW48241;NP_002022;P42685;XP_005266937;XP_005266938;XP_005266939 Hs.89426 1677788;5119201 D6S1513;RH67005 GTK;PTK5;RAK OTTHUMP00000017048;PTK5 protein tyrosine kinase 5;fyn-related kinase;nuclear tyrosine protein kinase RAK;protein-tyrosine kinase 5;tyrosine-protein kinase FRK APPROVED protein-coding HGNC:3955 05954 606573 REVIEWED 1312459 FRMD3 FERM domain containing 3 The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 9 q21.32 56432293 56723359 - 85857905 86153348 - 83242990 83538433 - 737633;6480464;8554872 12477932 12601556;14702039;17260017;19252134;20379614;20460425;21698141;23434934;8125298 257019 A2A2Y4;Q5JV61 ABBA01033998;ABBA01033999;ABBA01034000;ABBA01034001;AK094281;AK223597;AK297722;AL137847;AL161786;AL353641;AL450026;AMYH02021113;AMYH02021114;AMYH02021115;AMYH02021116;AY137774;BC023560;BC037253;BC041376;BM873990;BX647549;CH471089;EF560742;NM_001244959;NM_001244960;NM_001244961;NM_001244962;NM_174938;XM_005251882 A2A2Y4;AAH23560;AAH37253;AAN52119;ABQ59052;ACT64586;BAC04321;BAD97317;BAG60076;EAW62647;EAW62648;EAW62649;EAW62650;EAW62651;NP_001231888;NP_001231889;NP_001231890;NP_001231891;NP_777598;XP_005251939 Hs.127535;Hs.743606 1336299;1661490;1679630;1706834;1749811;1787164;1848057;2107115;2124935;2178610;7186440 D9S152;D9S1733;D9S2150;D9S2153;FRMD3__6754;RH68275;RH92879;SHGC-111546;SHGC-156240;SHGC-80898 4.1O;EPB41L4O;EPB41LO;MGC20553;P410;RP11-439K3.2 FERM domain-containing protein 3;OTTHUMP00000021540;OTTHUMP00000082756;band 4.1-like protein 4;band 4.1-like protein 4O;ovary type protein 4.1 APPROVED protein-coding ENSG00000172159 HGNC:24125 07402 607619 REVIEWED 1347019 FRMD6 FERM domain containing 6 INVOLVED IN apical constriction (inferred); cellular protein localization (inferred); regulation of actin filament-based process (inferred); FOUND IN apical junction complex (inferred); cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; afimoxifene 14 14 14 q22.1 31822811 32064436 + 51955819 52197445 + 51489121 51730727 + 6480464 12477932;12508121;14702039;15324660;15489334;16137681;16189514;16341207;16344560;18029348;19668339;20171287;21116278;21139048;21666719;21785462;22190428;22216198;23000965;23455924 122786 G3V2L4;G3V3V8;G3V4T7;G3V517;H0YJ19;H0YJC1;Q96NE9 ABBA01018154;ABBA01018155;ABBA01018156;AK021747;AK055545;AK126521;AK129995;AK315764;AL079307;AL122125;AL833158;AL833380;AL833661;AMYH02029181;AMYH02029182;AMYH02029183;BC020521;BC029870;BX161430;BX647239;BX647863;BX648295;CH471078;DA456598;NM_001042481;NM_001267046;NM_001267047;NM_152330;XM_006720029;XM_006720030 AAH20521;AAH29870;ADZ15577;BAB70950;BAG38116;BAG54342;CAD61902;CAI46062;CAI46264;EAW65666;EAW65667;EAW65668;EAW65669;EAW65670;EAW65671;NP_001035946;NP_001253975;NP_001253976;NP_689543;Q96NE9;XP_006720092;XP_006720093 Hs.434914 1653927;1698512;1701434;1756785;2140737 A004Z23;RH102806;RH104349;SGC32576;SHGC-143916 C14orf31;EX1;MGC17921;c14_5320 4.1 ezrin radixin moesin (FERM)-containing protein;FERM domain-containing protein 6;OTTHUMP00000178977;OTTHUMP00000178978;OTTHUMP00000245043;OTTHUMP00000245046;Willin;expanded homolog protein-coding ENSG00000139926 HGNC:19839 12646 614555 VALIDATED 1344152 FRMD6-AS1 FRMD6 antisense RNA 1 INTERACTS WITH valproic acid 14 14 14 q22.1 31983646 31985448 - 52116234 52118462 - 51649516 51651744 - 6480464 11181995;14702039 145438 P0C7T7 ABBA01018156;AK022437;AL079307;AL122125;AMYH02029182;BX104826;CH471078;NR_037676;W44516 EAW65672;P0C7T7 Hs.645410 5014051;5015619;5021872;5022200;5037552 D11S3114;D8S2278;D8S2279;L18426;sY3084 C14orf82;FLJ12375 chromosome 14 open reading frame 82 APPROVED ncrna ENSG00000273888 HGNC:20129 VALIDATED 1602672 FRMD8 FERM domain containing 8 FOUND IN cytoskeleton (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cadmium atom 11 11 11 q13 62480396 62507341 + 65154041 65180996 + 65386570 65413525 + 6480464 12477932;14702039;16344560;18029348;19322201;20098747;21139048;21832049;21906983;21963094;22505724;23000965;24250222 83786 E9PRA3;E9PRP1;E9PS62;Q8N4M4;Q9BZ67 ABBA01024122;ABBA01024123;ABBA01024124;ABBA01024125;ABBA01024126;AF334946;AK056778;AK074850;AK291678;AK304363;AMYH02024957;AP000944;BC014498;BC033851;BC044658;BC051695;CH471076;CQ782804;DA863645;DB453671;NM_001300832;NM_001300833;NM_031904;XM_005274349 AAG50295;AAH33851;AAH44658;AAH51695;ACE86791;ACE87478;BAB71282;BAC11244;BAF84367;BAG65203;CAF86031;EAW74384;EAW74385;EAW74386;NP_001287761;NP_001287762;NP_114110;Q9BZ67;XP_005274406 Hs.578433 2129660;5109281 D1S1425;G33113 FKSG44;FLJ32216;FLJ90369;MGC31785 FERM domain-containing protein 8;OTTHUMP00000232422;OTTHUMP00000232424;OTTHUMP00000232425 protein-coding ENSG00000126391 HGNC:25462 13326 VALIDATED 1605020 FRMD8P1 FERM domain containing 8 pseudogene 1 FOUND IN cytoskeleton (inferred); INTERACTS WITH disodium selenite X X X q12 65117643 65119442 - 64770502 64772301 - 65550622 65552421 - 6480464 12477932;21906983 83957 Q9BZ68 ABBA01067026;AF334945;AL050306;AMYH02039611;BC128150;NR_033742 AAG50294 Hs.652967 5493363 UniSTS:485841 MGC149236 APPROVED pseudo ENSG00000227942 HGNC:24690 06511 VALIDATED 1348430 FRMD4B FERM domain containing 4B This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014] 3 3 3 p14.1 69147274 69362951 - 69219146 69435430 - 69169995 69432761 - 1580863;6480464;8554872 10231032;11445584;12477932;14702039;15489334;17903296;19913121;20124441;20190752;20379614;20628086;20718813 23150 B3KNA2;C9J6Q2;C9J7M5;C9JA15;C9JAW0;C9JBX2;C9JYK2;E9PGA7;H7C550;Q2TB00;Q6PEW6;Q9Y2L6 AB023230;ABBA01030899;ABBA01030900;ABBA01030901;ABBA01030902;ABBA01030903;ABBA01030904;AC112212;AC112221;AC135851;AK000244;AK024086;AK091076;AK295045;AL110231;AL832231;AMYH02007016;AMYH02007017;AMYH02007018;AMYH02007019;AMYH02007020;AMYH02007021;BC028291;BC043396;BC057836;BC110637;BQ025467;CB988073;DC340455;NG_034059;NM_015123;XM_005264720;XM_005264721;XM_005264722;XM_005264723;XM_006713063;XM_006713064 AAH28291;AAH57836;AAI10638;AAI72315;BAA76857;BAG51264;BAG58096;NP_055938;Q9Y2L6;XP_005264777;XP_005264778;XP_005264779;XP_005264780;XP_006713126;XP_006713127 Hs.371681;Hs.709671 1645927;1660784;1687712;1774331;1774367;2107191;2124067;2134065;2144708;2151189;2153511;2176070;5022200;5022578;5037552 A004T19;D1S1423;D3S3341;D3S3466;D3S4106;D8S2279;G10598;G16566;GRSP1__7551;L18426;RH91849;SHGC-13155;SHGC-34246;SHGC-77073;STS-N34415 6030440G05Rik;GRSP1;KIAA1013 FERM domain-containing protein 4B;GRP1-binding protein GRSP1;OTTHUMP00000213421 protein-coding ENSG00000114541 HGNC:24886 REVIEWED 1605911 FRMD5 FERM domain containing 5 ENCODES a protein that exhibits cytoskeletal protein binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); extrinsic component of membrane (inferred); INTERACTS WITH (+)-catechin; aflatoxin B1; amiodarone 15 15 15 q15.3 21055188 21376921 - 44162962 44487429 - 43870761 44195294 - 6480464;8554872 12477932;14702039;15489334;16169070;16344560;18029348;20686565;21139048;22846708;23000965;23022100;24097068 84978 B3KVN9;B5MC67;F8WCI0;F8WEJ8;H0Y5N1;H0YKW6;H0YNI9;H7C282;Q7Z6J6 ABBA01039217;ABBA01039218;ABBA01039219;ABBA01039220;AC023356;AC073940;AC090513;AC090516;AK090572;AK123018;AK290013;AMYH02030327;AMYH02030328;AMYH02030329;BC007796;BC020191;BC043486;BC053647;CH471082;DA276649;HY049131;NM_001286490;NM_001286491;NM_032892;NR_104455;XM_005254729;XM_005254730 AAH53647;BAC03480;BAF82702;BAG53851;EAW77249;EAW77250;EAW77251;EAW77252;EAW77253;EAW77254;EAW77255;NP_001273419;NP_001273420;NP_116281;Q7Z6J6;XP_005254786;XP_005254787 Hs.578544 1664010;1736794;1749573;1755001;1757121;1798334;1798356;1798460;1798988;1799018;1799558;1801164;1803426;1804162;1806220;1806788;1807318;1807398;1808920;1809114;1809518;1809924;1811110;1811176;1811276;1812482;1812836;1813428;1814018;1814446;1814520;1814810;1815040;1816514;1816870;1816872;1816956;1819036;1820026;1820168;1821290;1821360;1821422;1821424;1822410;1822550;1822760;1822762;1823012;1823470;1824220;1824604;1825236;1825316;1825708;1827010;1827840;1828024;1828100;1828184;1828286;1829506;1830264;1830816;1831714;1832060;1833562;1836556;1837270;1839126;1839630;1839936;1840838;1843694;1844120;1844554;1844660;1844830;1934328;1934330;1934332;1934334;1934336;1934338;1934340;1934342;1934344;1934346;1934348;1934350;1934352;1934354;1934356;1934358;1934360;1934362;1934364;1934366;1934368;1934370;1934372;1934374;1934376;1934378;1934380;1934382;1934384;1934386;1934388;1934390;1934392;1934394;1934396;1934398;1934400;1934402;1934404;1934406;1934408;1934410;1934412;1934414;1934416;1934418;1934420;1934422;1934424;1934426;1934428;1934430;1934432;1934434;1934436;1934438;1934440;1934442;1934444;1934446;1934448;1934450;1934452;1934454;1934456;1934458;1934460;1934462;1934464;1934466;1934468;1934470;1934472;1934474;1934476;1934478;1934480;1934482;1934484;1934486;1934488;1934490;1934492;1934494;1934496;1934498;1934500;1934502;1934504;1934506;1934508;1934510;1934512;1934514;1934516;1934518;1934520;1934522;1934524;1934526;1934528;1934530;1934532;1934534;1934536;1934538;1934540;1934542;1934544;1934546;1934548;1934550;1934552;1934554;1934556;1934558;1934560;1934562;1934564;1934566;1934568;1934570;1934572;1934574;1934576;1934578;1934580;1934582;1934584;1934586;1934588;1934590;1934592;1934594;1934596;1934598;1934600;1934602;1934604;1934606;1934608;1934610;1934612;1934614;1934616;1934618;1934620;1934622;1934624;1934626;1934628;1934630;1934632;1934634;1934636;1934638;1934640;1934642;1934644;1934646;1934648;1934650;1934652;1934654;1934656;1934658;1934660;1934662;1934664;1934666;1934668;1934670;1934672;1934674;1934676;1934678;1934680;1934682;1934684;1934686;1934688;1934690;1934692;1934694;1934696;1934698;1934700;1934702;1934704;1934706;1934708;1934710;1934712;1934714;1934716;1934718;1934720;1934722;1934724;1934726;1934728;1934730;1934732;1934734;1934736;1934738;1934740;1934742;1934744;1934746;1934748;1934750;1934752;1934754;1934756;1934758;1934760;1934762;1934764;1934766;1934768;1934770;1934772;1934774;1934776;1934778;1934780;1934782;1934784;1934786;1934788;1934790;1934792;1934794;1934796;1934798;1934800;1934802;1934804;1934806;1934808;1934810;1934812;1934814;1934816;1934818;1934820;1934822;1934824;1934826;1934828;1934830;1934832;1934834;1934836;1934838;1934840;1934842;1934844;1934846;1934848;1934850;1934852;1934854;1934856;1934858;1934860;1934862;1934864;1934866;1934868;1934870;1934872;1934874;1934876;1934878;1934880;1934882;1934884;1934886;1934888;1934890;1934892;1934894;1934896;1934898;1934900;1934902;1934904;1934906;1934908;1934910;1934912;2111234;2111246;2209176;2209186;2209188;2209190;2209192;2209194;2209196;2209198;2209200;2209202;2209204;2209206;2209208;2209210;2209212;2209214;2209216;2209218;2209220;2209222;2209224;2209226;2209228;2209230;2209232;2209234;2209236;2209238;2209240;2209242;2209244;2209246;2209248;2209250;2209252;2209254;2209256;2209258;2209260;2209262;2209264;2209266;2209268;2209270;2209272;2209274;2209276 D15S1307;D15S487;D15S495;D15S783;ECD00002;ECD00013;ECD00067;ECD00337;ECD00354;ECD00631;ECD01454;ECD02610;ECD03001;ECD04065;ECD04356;ECD04630;ECD04670;ECD05443;ECD05546;ECD05751;ECD05954;ECD06553;ECD06586;ECD06636;ECD07248;ECD07431;ECD07735;ECD08036;ECD08252;ECD08290;ECD08436;ECD08552;ECD09299;ECD09481;ECD09482;ECD09527;ECD10584;ECD11085;ECD11158;ECD11725;ECD11764;ECD11795;ECD11796;ECD12293;ECD12363;ECD12468;ECD12469;ECD12594;ECD12826;ECD13207;ECD13400;ECD13719;ECD13764;ECD13962;ECD14620;ECD15043;ECD15135;ECD15173;ECD15217;ECD15268;ECD15884;ECD16266;ECD16544;ECD16994;ECD17168;ECD17924;ECD19442;ECD19802;ECD20742;ECD20998;ECD21151;ECD21612;ECD23058;ECD23273;ECD23491;ECD23544;ECD23631;REN37997;REN37998;REN37999;REN38000;REN38001;REN38002;REN38003;REN38004;REN38005;REN38006;REN38007;REN38008;REN38009;REN38010;REN38011;REN38012;REN38013;REN38014;REN38015;REN38016;REN38017;REN38018;REN38019;REN38020;REN38021;REN38022;REN38023;REN38024;REN38025;REN38026;REN38027;REN38028;REN38029;REN38030;REN38031;REN38032;REN38033;REN38034;REN38035;REN38036;REN38037;REN38038;REN38039;REN38040;REN38041;REN38042;REN38043;REN38044;REN38045;REN38046;REN38047;REN38048;REN38049;REN38050;REN38051;REN38052;REN38053;REN38054;REN38055;REN38056;REN38057;REN38058;REN38059;REN38060;REN38061;REN38062;REN38063;REN38064;REN38065;REN38066;REN38067;REN38068;REN38069;REN38070;REN38071;REN38072;REN38073;REN38074;REN38075;REN38076;REN38077;REN38078;REN38079;REN38080;REN38081;REN38082;REN38083;REN38084;REN38085;REN38086;REN38087;REN38088;REN38089;REN38090;REN38091;REN38092;REN38093;REN38094;REN38095;REN38096;REN38097;REN38098;REN38099;REN38100;REN38101;REN38102;REN38103;REN38104;REN38105;REN38106;REN38107;REN38108;REN38109;REN38110;REN38111;REN38112;REN38113;REN38114;REN38115;REN38116;REN38117;REN38118;REN38119;REN38120;REN38121;REN38122;REN38123;REN38124;REN38125;REN38126;REN38127;REN38128;REN38129;REN38130;REN38131;REN38132;REN38133;REN38134;REN38135;REN38136;REN38137;REN38138;REN38139;REN38140;REN38141;REN38142;REN38143;REN38144;REN38145;REN38146;REN38147;REN38148;REN38149;REN38150;REN38151;REN38152;REN38153;REN38154;REN38155;REN38156;REN38157;REN38158;REN38159;REN38160;REN38161;REN38162;REN38163;REN38164;REN38165;REN38166;REN38167;REN38168;REN38169;REN38170;REN38171;REN38172;REN38173;REN38174;REN38175;REN38176;REN38177;REN38178;REN38179;REN38180;REN38181;REN38182;REN38183;REN38184;REN38185;REN38186;REN38187;REN38188;REN38189;REN38190;REN38191;REN38192;REN38193;REN38194;REN38195;REN38196;REN38197;REN38198;REN38199;REN38200;REN38201;REN38202;REN38203;REN38204;REN38205;REN38206;REN38207;REN38208;REN38209;REN38210;REN38211;REN38212;REN38213;REN38214;REN38215;REN38216;REN38217;REN38218;REN38219;REN38220;REN38221;REN38222;REN38223;REN38224;REN38225;REN38226;REN38227;REN38228;REN38229;REN38230;REN38231;REN38232;REN38233;REN38234;REN38235;REN38236;REN38237;REN38238;REN38239;REN38240;REN38241;REN38242;REN38243;REN38244;REN38245;REN38246;REN38247;REN38248;REN38249;REN38250;REN38251;REN38252;REN38253;REN38254;REN38255;REN38256;REN38257;REN38258;REN38259;REN38260;REN38261;REN38262;REN38263;REN38264;REN38265;REN38266;REN38267;REN38268;REN38269;REN38270;REN38271;REN38272;REN38273;REN38274;REN38275;REN38276;REN38277;REN38278;REN38279;REN38280;REN38281;REN38282;REN38283;REN38284;REN38285;REN38286;REN38287;REN38288;REN38289;SHGC-111270;SHGC-141950;SHGC-144561;stSG628009;stSG628015;stSG628016;stSG628017;stSG628018;stSG628019;stSG628020;stSG628021;stSG628022;stSG628023;stSG628024;stSG628025;stSG628026;stSG628028;stSG628029;stSG628030;stSG628031;stSG628032;stSG628033;stSG628034;stSG628035;stSG628036;stSG628037;stSG628038;stSG628040;stSG628041;stSG628042;stSG628043;stSG628044;stSG628045;stSG628046;stSG628047;stSG628048;stSG628049;stSG628050;stSG628051;stSG628052;stSG628053;stSG628054;stSG628055;stSG628056;stSG628057;stSG628058;stSG628059;stSG628060;stSG628061;stSG628062 FLJ41022;MGC14161 FERM domain-containing protein 5;OTTHUMP00000066883;OTTHUMP00000066884;OTTHUMP00000196882 protein-coding ENSG00000171877 HGNC:28214 17493 VALIDATED 2311729 FRG2C FSHD region gene 2 family, member C ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cadmium atom 3 3 3 p12.3 76457223 76460104 + 75713487 75716368 + 75664336 75667217 + 6480464;8554872 11245978;15520407;16641997 100288801 A6NGY1;C9JUX3 ABBA01030989;AC108724;AC245159;CH471110;NM_001124759 A6NGY1;EAW68900;NP_001118231 Hs.274541 5022578 D1S1423 FSHD region gene 2 protein family member C;HSA3-FRG2;OTTHUMP00000213746;OTTHUMP00000213747;protein FRG2-like-2 protein-coding ENSG00000172969 HGNC:33626 PROVISIONAL 1350685 FRMPD2B FERM and PDZ domain containing 2B, pseudogene 10 10 10 q11.22 42962487 42970036 - 48844036 48862688 - 46876674 46895326 + 12477932 728798 AK294650;AK313659;AK315971;AL450334;AMYH02022918;AMYH02022919;AMYH02022920;AMYH02022921;AMYH02022922;BC071635;BC072395;BC110798;BC137431;BC137434;BC137439;BC137440;BC144635;BX005072;DC315823;NR_033172 AAH71635;AAH72395;AAI10799;AAI37432;AAI37435;AAI37440;AAI37441;AAI44636;BAG36413;BAG57825;BAH14342;Q6IN97 Hs.664786;Hs.709611 FLJ78870;FLJ94239;FRMPD2L1;FRMPD2L2;FRMPD2P1;FRMPD2P2;FRMPDP2;MGC169052;MGC169055;MGC169060;MGC169061;PDZD5A;PDZD5B;PDZK5A;PDZK5B;bA556L1.2;yX59F3.2 pdz domain containing 5a APPROVED pseudo HGNC:16843 VALIDATED 1351209 FRMPD2P2 FERM and PDZ domain containing 2 pseudogene 2 This gene represents a pseudogene of the FERM and PDZ domain containing 2 gene. Together with another related pseudogene, all three loci are located in a region of segmental duplication on chromosome 10q. This gene represents the most centromerically proximal copy. [provided by RefSeq, Dec 2009] 10 q11.22 46657136 46675734 - 12477932 728603 Q6IN97 AK294650;AK313659;AK315971;AL450334;BC071635;BC072395;BC110798;BC137431;BC137434;BC137439;BC137440;BC144635;NG_016240 AAH71635;AAH72395;AAI10799;AAI37432;AAI37435;AAI37440;AAI37441;AAI44636;BAG36413;BAG57825;BAH14342;Q6IN97 Hs.664786;Hs.709611 FRMPD2L2;FRMPDP2;PDZD5B;PDZK5B;bA556L1.2 pdz domain containing 5b APPROVED pseudo HGNC:23453 INFERRED 1352948 FRMD7 FERM domain containing 7 Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008] X X X q26.2 131597430 131648459 - 131211021 131262050 - 132076993 132128022 - 7240710;6480464;8554872;8699517 10090899;12477932;14702039;15489334;15772651;16240070;17013395;17397053;17768376;17846367;17893669;17962394;18029348;18087240;18246032;18247295;18372314;18431453;19072571;19892780;20301748;20450309;2063919;21220551;21303855;21365021;21386928;21746984;22065930;22128244;22262942;22490987;23406872;23733424;23946638;23967341 90167 Q6ZUT3;X6R7S7 ABBA01042194;ABBA01042195;ABBA01042196;AK125336;AL049792;AL109749;AL161984;AL449383;AMYH02040498;BC114371;CH471107;FJ717411;NG_012347;NM_194277;XM_005262493 AAI14372;ACN56448;BAC86135;EAX11785;NP_919253;Q6ZUT3;XP_005262550 Hs.170776 1299932;1705536;1851268;2126934;2178238 AL023935;AL031253;DXS6808;DXS993;SHGC-83868 FLJ43346;NYS;NYS1;RP6-213H19.2 FERM domain-containing protein 7;OTTHUMP00000024035;OTTHUMP00000215108;OTTHUMP00000215109;XIPAN;nystagmus 1, congenital APPROVED protein-coding ENSG00000165694 HGNC:8079 06624 300628;310700 REVIEWED 6481207 FRMPD3-AS1 FRMPD3 antisense RNA 1 q22.3 100874122 AA661738;AL035088;HG512647;NR_046750 Hs.600967 APPROVED ncrna HGNC:41239 VALIDATED 6481205 FRMPD4-AS1 FRMPD4 antisense RNA 1 p22.2 11329013 100874121 AC112657;BG218223;HG512436 Hs.679741 APPROVED ncrna HGNC:41222 6481142 FRMD6-AS2 FRMD6 antisense RNA 2 ASSOCIATED WITH Lung Neoplasms (inferred) 14 14 q22.1 51921230 52066670 - 51454512 51599952 - 8554872 16344560;20171287 100874185 ABBA01018154;ABBA01018155;AL122125;AL358332;AMYH02029180;AMYH02029181;DA199814;DB283917;HG506202;HG506203;NR_047477;NR_051990 Hs.578226 RP11-255G12.5 APPROVED ncrna ENSG00000258537 HGNC:43637 VALIDATED 1350302 FRMD4A FERM domain containing 4A ENCODES a protein that exhibits protein binding, bridging (inferred); INVOLVED IN establishment of epithelial cell polarity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); tight junction (inferred); INTERACTS WITH all-trans-retinoic acid; cisplatin; cobalt dichloride 10 10 10 p13 13612839 14300505 - 13685706 14372866 - 13643706 14330867 - 737633;6480464;8554872 12477932 10718198;14702039;16385451;17043677;17643375;20031603;20379614;22006218;22068108;22430674;22564525;23793025;24324551 55691 F8WAN4;Q5T376;Q5T378;Q9P2Q2;S4R324;S4R3Y6 AB037715;ABBA01034613;ABBA01034614;ABBA01034615;ABBA01034616;ABBA01034617;ABBA01034618;ABBA01034619;ABBA01034620;ABBA01034621;ABBA01034622;ABBA01034623;ABBA01034624;ABBA01034625;AC044781;AC069025;AK001072;AK057828;AK093978;AK094045;AK289693;AL157392;AL157896;AL365495;AL512660;AL607075;AMYH02022180;AMYH02022181;AMYH02022182;AMYH02022183;AMYH02022184;AMYH02022185;AMYH02022186;AMYH02022187;AMYH02022188;AMYH02022189;AMYH02022190;AMYH02022191;AMYH02022192;AMYH02022193;AMYH02022194;BC018891;BC151244;CH471072;KF455207;KF511094;NM_018027;XM_005252489;XM_005252490;XM_005252494;XM_005252495;XM_006717457;XM_006717458;XM_006717459;XM_006717460;XM_006717461;XM_006717462;XM_006717463;XM_006717464 AAI51245;BAA91492;BAA92532;BAF82382;EAW86275;EAW86276;EAW86277;NP_060497;Q9P2Q2;XP_005252546;XP_005252547;XP_005252551;XP_005252552;XP_006717520;XP_006717521;XP_006717522;XP_006717523;XP_006717524;XP_006717525;XP_006717526;XP_006717527 Hs.330463;Hs.656573 1335568;1336066;1337675;1341937;1645268;1654167;1659401;1663093;1664265;1666378;1681744;1688356;1695668;1707216;1710116;1725601;1736056;1736084;1736108;1737159;1739375;1758201;1758541;1760273;1762383;1764215;1767906;1769172;1777141;1777598;1779216;1779534;1780040;1782032;1782066;1787012;1847471;2107117;2111063;2111344;2115305;2125805;2128109;2143149;2155306;2162297;2168212;2180564;2181636;5015605;5022578;5037552;7186429 A008J08;A008T01;AFMa111yb9;D10S1270E;D10S1332E;D10S1361E;D10S1369E;D10S1382E;D10S1545E;D10S1664;D10S1707;D10S1864;D10S223;D10S2275;D10S485E;D10S506;D11S2977;D11S3020;D1S1423;D8S2279;FRMD4__6755;G62020;HSC13H072;NIB1705;RH45365;RH45517;RH46504;RH65818;RH70373;RH76384;RH78375;RH94371;SHGC-12991;SHGC-132597;SHGC-146212;SHGC-147648;SHGC-147850;SHGC-148669;SHGC-149575;SHGC-149858;SHGC-152835;SHGC-153502;SHGC-153952;SHGC-154294;SHGC-33538;SHGC-36407;SHGC-78712;SHGC-79195;SHGC-83769;STS-N70116;STS-R39119;WI-21574 FLJ10210;FRMD4;KIAA1294;RP11-397C18.4;bA295P9.4 FERM domain containing 4;FERM domain-containing protein 4A;OTTHUMP00000019149;OTTHUMP00000019151 protein-coding ENSG00000151474 HGNC:25491 13553 VALIDATED 1353602 FRMPD4 FERM and PDZ domain containing 4 This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010] X X X p22.2 16274012 16856608 + 12156585 12742642 + 12138466 12724523 + 1580863;6480464;8554872 12421765;12477932;19118189;19913121;20628086;22321011;9205841 9758 Q14CM0 AB002314;ABBA01070970;ABBA01070971;ABBA01070972;ABBA01070973;ABBA01070974;ABBA01070975;ABBA01070976;ABBA01070977;ABBA01070978;ABBA01070979;ABBA01070980;ABBA01070981;ABBA01070982;ABBA01070983;ABBA01070984;ABBA01070985;ABBA01070986;ABBA01070987;ABBA01070988;ABBA01070989;ABBA01070990;ABBA01070991;ABBA01070992;ABBA01070993;ABBA01070994;ABBA01070995;ABBA01070996;ABBA01070997;ABBA01070998;ABBA01070999;ABBA01071000;ABBA01071001;ABBA01071002;ABBA01071003;ABBA01071004;ABBA01071005;ABBA01071006;ABBA01071007;ABBA01071008;ABBA01071009;ABBA01071010;ABBA01071011;ABBA01071012;ABBA01071013;ABBA01071014;ABBA01071015;ABBA01071016;ABBA01071017;ABBA01071018;ABBA01071019;ABBA01071020;ABBA01071021;ABBA01071022;ABBA01071023;ABBA01071024;AC002981;AC112499;AC112655;AC112657;AC119619;AK289694;AMYH02038872;AMYH02038873;AMYH02038874;AMYH02038875;AMYH02038876;AMYH02038877;AMYH02038878;AMYH02038879;AMYH02038880;AMYH02038881;AMYH02038882;BC113700;BC113702;BC143746;BX089361;CH471074;KF458978;NG_016419;NM_014728;XM_005274632;XM_006724524 AAI13701;AAI13703;AAI43747;ADR83294;BAA20774;BAF82383;EAW98804;NP_055543;Q14CM0;XP_005274689;XP_006724587 Hs.657507 1337781;1656877;1667434;1701996;1702982;1703086;1727705;1749515;1749581;1753083;1766837;1776450;1787340;1851348;1851961;1852708;1853596;1856370;1923354;2121265;2122042;2150575;2151838;2176064;2187088;2219482 152;AF020095;DXS1006E;DXS1434;DXS1444;DXS6723;DXS7005E;DXS7104;DXS7510;DXS7562;DXS7727;DXS7740;DXS7753;G18214;G63266;PDZK10__5852;REN32501;RH47776;RH77767;SHGC-111221;SHGC-111274;SHGC-152226;SHGC-154904;SHGC-36795;SHGC-68548;STS-Z41089 KIAA0316;MGC142260;MGC142262;PDZD10;PDZK10 FERM and PDZ domain-containing protein 4;OTTHUMP00000022920;PDZ domain containing 10;PDZ domain-containing protein 10;PSD-95-interacting FERM and PDZ domain protein;PSD-95-interacting regulator of spine morphogenesis;Preso APPROVED protein-coding ENSG00000169933 HGNC:29007 10011 300838 REVIEWED 1604148 FRRS1 ferric-chelate reductase 1 Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008] 1 1 1 p21.2 98429137 98486225 - 100174206 100232186 - 99708650 99766630 - 6480464;8554872 12477932;14499595;20379614;23218918 391059 Q6ZNA5 ABBA01045449;AC105270;AK131302;AL451051;AMYH02001549;AMYH02001550;BC029438;CH471097;NM_001013660;XM_005270861;XR_426607 AAI56176;AAI57017;BAD18470;EAW72988;NP_001013682;Q6ZNA5;XP_005270918 Hs.454779 1648228;2185732;5015619;5016478;5037552;5094096 A010A31;D11S3114;D8S2279;G34970;GDB:434012;SHGC-75214 SDFR2;SDR-2;SDR2 OTTHUMP00000012465;stromal cell derived factor receptor 2 homolog;stromal cell-derived receptor 2 APPROVED protein-coding ENSG00000156869 HGNC:27622 18403 611578 VALIDATED 1601735 FRMPD3 FERM and PDZ domain containing 3 FOUND IN cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cyclosporin A (ortholog); thimerosal (ortholog) X X X q22 107237183 107319985 + 106769819 106848474 + 107522450 107605244 + 6480464 11347906;15772651;18029348 84443 Q5JV73 AB058720;ABBA01035901;ABBA01035902;ABBA01035903;ABBA01035904;ABBA01035905;ABBA01035906;ABBA01035907;ABBA01035908;ABBA01035909;ABBA01035910;ABBA01035911;ABBA01035912;AL035088;AL137787;AMYH02040213;AMYH02040214;AMYH02040215;CH471120;NM_032428;XM_006724709 BAB47446;EAX02712;NP_115804;Q5JV73;XP_006724772 Hs.496546 1662327;1694068;1694072;1694078;1702818;1703090;1712875;2165584 AL022452;AL035128;AL035153;AL035156;DXS1332;DXS1456;RH120154;STS-X85323 KIAA1817;RP5-1070B1.1 FERM and PDZ domain-containing protein 3;OTTHUMP00000023806 protein-coding ENSG00000147234 HGNC:29382 INFERRED 1346527 FRRS1L ferric-chelate reductase 1-like FOUND IN cell junction (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH paracetamol 9 9 9 q31 82398790 82428780 - 111899581 111929571 - 109137301 109167291 - 6480464 10603000;15164053 23732 Q9P0K9 ABBA01042768;ABBA01042769;ABBA01042770;ABBA01042771;AF155065;AI089389;AL358815;AMYH02021433;BF514667;CH471105;NM_014334 AAF28159;AAI56448;EAW59040;NP_055149;Q9P0K9 Hs.347537 C9orf4;CG-6;CG6 DOMON domain-containing protein FRRS1L;OTTHUMP00000021879;brain protein CG-6;ferric-chelate reductase 1-like protein;hypothetical protein LOC23732;uncharacterized protein C9orf4 APPROVED protein-coding HGNC:1362 18583 604574 VALIDATED 5129359 FRY-AS1 FRY antisense RNA 1 13 13 13 q13.1 13665010 13672608 - 32598183 32605776 - 32024046 32031639 - 12477932 100507099 ABBA01010130;AF086419;AL137143;AMYH02027819;BC035084;HG505531;NR_103839 Hs.536364 1717889;2146979;5016478 GDB:434012;RH122776;SHGC-57684 RP11-207N4.2 APPROVED ncrna HGNC:39725 VALIDATED 1321005 FRS3 fibroblast growth factor receptor substrate 3 This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013] 6 6 6 p21.1 43291239 43300959 - 41737914 41747643 - 41770021 41779905 - 1580863;6480464;8554872 10383403;10629055;11432792;11877385;12477932;12586769;14574404;15094036;15188402;15485655;15489334;15738000;16169070;16341674;16702953;18985028;19204726;19322201;20228838;23279575;8761293;9660748 10817 A6PVU0;O43559 ABBA01050747;AF036718;AL365205;AMYH02013610;BC010611;BM741175;CH471081;CR457026;HY036161;NM_006653;XM_006714969 AAB92555;AAH10611;ABM83001;ABM86194;CAG33307;EAX04060;NP_006644;O43559;XP_006715032 Hs.194208 1803956;1807940;1808148;1810594;1812714;1821178;1822574;1823386;1827372;1828122;1828744;1831916;1839136;1839576;1840098;1845884;1979966;1979968;1979970;1979972;1979974;1979976;1979978;1979980;1979982;1979984;1979986;1979988;1979990;1979992;1979994;1979996;1979998;1980000;1980002;1980004;1980006;1980008;1980010;1980012;1980014;1980016;1980018;1980020;1980022;1980024;1980026;1980028;1980030;1980032;1980034;1980036;1980038;1980040;1980042;1980044;1980046;1980048;1980050;1980052;1980054;1980056;1980058;1980060;1980062;2109323;2216250;2216252;2216254;2216256;2216258;2216260 ECD02892;ECD04945;ECD05055;ECD06290;ECD07368;ECD11666;ECD12375;ECD12783;ECD14801;ECD15184;ECD15499;ECD17096;ECD20747;ECD20971;ECD21233;ECD24161;FRS3_9186;REN60874;REN60875;REN60876;REN60877;REN60878;REN60879;REN60880;REN60881;REN60882;REN60883;REN60884;REN60885;REN60886;REN60887;REN60888;REN60889;REN60890;REN60891;REN60892;REN60893;REN60894;REN60895;REN60896;REN60897;REN60898;REN60899;REN60900;REN60901;REN60902;REN60903;REN60904;REN60905;REN60906;REN60907;REN60908;REN60909;REN60910;REN60911;REN60912;REN60913;REN60914;REN60915;REN60916;REN60917;REN60918;REN60919;REN60920;REN60921;REN60922;stSG635003;stSG635004;stSG635005;stSG635006;stSG635007;stSG635008 FRS2-beta;FRS2B;FRS2beta;MGC17167;SNT-2;SNT2 FGFR substrate 3;FGFR-signaling adaptor SNT2;OTTHUMP00000016383;suc1-associated neurotrophic factor target 2 (FGFR signalling adaptor) APPROVED protein-coding ENSG00000137218 HGNC:16970 06373 607744 REVIEWED 1313132 FRMPD1 FERM and PDZ domain containing 1 ASSOCIATED WITH Mammary Neoplasms, Experimental (ortholog); FOUND IN extracellular vesicular exosome; INTERACTS WITH cadmium dichloride (ortholog) 9 9 9 p13.2 37584272 37680095 + 37651052 37746901 + 37651055 37746904 + 1601189;6480464;8554872 17404222 10231032;12477932;18029348;18566450;20379614;23318951 22844 F5H0G3;Q5SYB0 AB023184;ABBA01050389;ABBA01050390;AK302739;AK302854;AL513165;AL591470;AMYH02019498;AMYH02019499;BC114965;BX648967;CH471071;NM_014907 AAI14966;BAA76811;BAG64040;BAH13793;CAI46019;EAW58270;EAW58271;NP_055722;Q5SYB0 Hs.163990 1681865;1764095;1780044;1786964;2107119;2111334 D5S1557E;FRMPD1__6756;RH92430;SHGC-144715;SHGC-147751;SHGC-154297 FRMD2;KIAA0967;MGC138833;RP11-263I4.1 FERM and PDZ domain-containing protein 1;FERM domain-containing protein 2;OTTHUMP00000021391;OTTHUMP00000240469 protein-coding ENSG00000070601 HGNC:29159 17018 VALIDATED 1317842 FRS2 fibroblast growth factor receptor substrate 2 ENCODES a protein that exhibits fibroblast growth factor receptor binding; neurotrophin TRKA receptor binding; INVOLVED IN fibroblast growth factor receptor signaling pathway; PARTICIPATES IN fibroblast growth factor signaling pathway; neurotrophic factor signaling pathway; FOUND IN cell-cell junction (inferred); cytoplasm (inferred); endosome (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; carbamazepine; diclofenac 12 12 12 q15 69527782 69637211 + 69864129 69973573 + 69470349 69579793 + 1580863;6480464;6484113;6907045 10092678;10383403;10629055;10650943;10783152;10822386;11090629;11353842;11360177;11390647;11447289;11877385;11997436;12154000;12402043;12419216;12477932;12571252;12660731;12688531;12766061;12974390;15004239;15342556;15488758;15489334;15564375;15738000;16284401;16344560;16893902;17145761;17944804;18189271;18391951;18591461;19103595;19111446;19652666;20881960;21048031;21233699;21596750;21706016;21793095;22151832;22235335;22974441;23393200;23503679;23563607;24284065;24706887;7806500;8761293;8780727;9045692;9069267;9182757;9632781;9660748 10818 F8VP54;F8VS98;F8VW66;F8VX65;F8VYZ7;F8VZ12;F8VZI4;L7RTG7;Q8WU20 ABBA01026538;ABBA01026539;ABBA01026540;AC018921;AF036717;AK226068;AK312477;AMYH02026712;AMYH02026713;BC021562;BP217337;BP230333;BP280775;BP311537;BP363404;BU166503;BX647520;BX647544;CD677411;CH471054;DA189114;DA311708;DA721439;DA762876;DB081843;DR003634;EU332842;JX512443;NM_001042555;NM_001278351;NM_001278353;NM_001278354;NM_001278355;NM_001278356;NM_001278357;NM_006654 AAB92554;AAH21562;ABY87531;ADZ15382;AGC09590;BAG35381;EAW97225;EAW97226;EAW97227;NP_001036020;NP_001265280;NP_001265282;NP_001265283;NP_001265284;NP_001265285;NP_001265286;NP_006645;Q8WU20 Hs.593446 1334916;1339049;1667608;1687063;1723059;1733548;1768229;1788786;1856123;2130474;2151823;2171487 D12S1680;D12S1703;D12S885;G09517;RH121882;RH134714;RH47270;SGC33268;SHGC-35867;SHGC-36122;WI-14856;WI-21627 FRS2A;FRS2alpha;SNT;SNT-1;SNT1 FGFR signalling adaptor;FGFR substrate 2;FGFR-signaling adaptor SNT;OTTHUMP00000240937;OTTHUMP00000240941;suc1-associated neurotrophic factor target 1 protein-coding ENSG00000166225 HGNC:16971 06372 607743 VALIDATED 1352555 FRYL FRY-like INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 4 4 4 p11 48948061 49230702 - 48499380 48782329 - 48497363 48780312 - 737633;6480464;8554872 12477932 10048485;15324660;16061630;16189514;17043677;17353931;17854671;18195096;21139048;21890473;21906983;21988832;22586326;22678362;22863883;22952844;23000965;23022380;24255178;9847074 285527 B3KXG5;D6R9B9;D6RJI4;F2Z2S2;H0Y9X0;O94915;Q6ZR29 AB020633;ABBA01014350;ABBA01014351;ABBA01014352;ABBA01014353;ABBA01014354;AC068037;AC096952;AK025034;AK127307;AK128452;AK131250;AL137546;AL833170;AL833444;AMYH02009168;AMYH02009169;AMYH02009170;AMYH02009171;AMYH02009172;AMYH02009173;AMYH02009174;BC021803;BC040987;BC050336;CR627228;NM_015030;U80082;XM_005248082;XM_005248083;XM_005248084;XM_005248085;XM_005248086;XM_005248087;XM_005248088;XM_005248089;XM_005248090;XM_005248091;XM_005248093 AAD00351;AAH21803;BAA74849;BAD18429;BAG54477;BAG54677;CAB70804;CAH10365;NP_055845;O94915;XP_005248139;XP_005248140;XP_005248141;XP_005248142;XP_005248143;XP_005248144;XP_005248145;XP_005248146;XP_005248147;XP_005248148;XP_005248150 Hs.595553 1341182;1656323;1667894;1682235;1685778;1687832;1689364;1734274;1744889;1766989;2137929;2160984;2164988;5021564 D20F300S2;D4S2466E;D4S3002;G02278;RH66159;SGC31162;SHGC-152556;SHGC-50381;SHGC-53011;SHGC-53327;SHGC-67424;SHGC-67640;SHGC-67773;STS-N33329 DKFZp686E205;FLJ16177;KIAA0826 ALL1-fused gene from chromosome 4p12 protein;OTTHUMP00000222200;furry homolog-like;furry-like protein-coding ENSG00000075539 HGNC:29127 VALIDATED 5685708 FSBP fibrinogen silencer binding protein INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus; INTERACTS WITH dexamethasone (ortholog); pirinixic acid (ortholog); pregnenolone 16alpha-carbonitrile (ortholog) 8 8 q 95439940 95449180 - 94427712 94436952 - 6480464 11181995;15489334;20531236 100861412 J3KSW4;O95073 ABBA01037453;AC023632;AF007866;AF487652;AK074272;AMYH02018428;CH471060;NG_012878;NM_001256141 AAD09313;AAL96666;EAW91711;NP_001243070;O95073 Hs.30561 1735846 D8S1441E FLJ23692 fibrinogen silencer-binding protein protein-coding HGNC:43653 VALIDATED 1344433 FSCN1 fascin actin-bundling protein 1 This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011] 7 7 7 p22 5592071 5605904 + 5632436 5646287 + 5592805 5606656 + 1580863;2317788;2317780;2317781;2317784;2317785;2317789;2317790;2317786;5131492;6480464 12109856;15136764;15380937;15626919;17419223;17696949;19259612;19556073;19721413 10026156;10783262;12100631;12139639;12477932;12592367;12789270;12902483;14532112;14535950;14702039;15161933;15451513;15489334;15671545;15882811;1602151;16049480;16169070;16533778;16977579;17029629;17255360;17353931;17473384;17510372;17638895;17671164;18029348;18283337;18343949;18587253;18599451;18716283;18776588;18781797;18851787;19061289;19115695;19133007;19340314;19483633;19657566;19729655;19738201;19738613;19741544;19759191;19818782;19819618;20001345;20056838;20137952;20160723;20360068;20366178;20434460;20596974;20634891;20701077;20713986;20819441;20851411;20888270;21089665;21139048;21223690;21258769;21300980;21319273;21323792;21351259;21390241;21475911;21491467;21498718;21565611;21618240;21764699;21771028;21900206;21906983;21914811;21937440;21963094;21975550;22005766;22076152;22110277;22128198;22304920;22586326;22730814;22784357;22883572;22939629;23000965;23030700;23156804;23184945;23196799;23209815;23221510;23252866;23333304;23393326;23428845;23428871;23454725;23633513;23898208;23899558;23986556;24085294;24196787;24235142;24378809;24599125;24642628;25027693;3525578;3886649;7933116;8068206;8579121;8647875;8970159;8999969;9033270;9558080;9565110;9571235 6624 B3KTA3;C9JFC0;C9JPH9;Q16658 ABBA01039470;ABBA01039471;ABBA01039472;AC006483;AK095254;AK095830;AK125295;AK316607;AMYH02015145;AY044229;BC000521;BC006304;BC007539;BC007643;BC007948;BC007988;BI546742;BT006636;BU629782;CH471144;HI574224;NG_030004;NM_003088;U03057;U09873 AAA62201;AAA86442;AAH00521;AAH06304;AAH07539;AAH07643;AAH07948;AAH07988;AAL01526;AAP35282;ABM82328;ABM85506;BAG38194;BAG53015;BAG53141;CBX47601;EAW87344;EAW87345;EAW87346;NP_003079;Q16658 Hs.118400 1298179;1676256;1725643;2107123;5037552 D7S2201;D8S2279;FSCN1__6758;G62033;RH28419 FAN1;FLJ38511;FLJ43305;HSN;SNL;p55 55 kDa actin-bundling protein;OTTHUMP00000115718;Singed, drosophila, homolog-like;actin bundling protein;fascin;fascin homolog 1, actin-bundling protein;singed-like (fascin homolog, sea urchin);singed-like protein APPROVED protein-coding ENSG00000075618 HGNC:11148 04068 602689 REVIEWED 1349524 FRMPD2 FERM and PDZ domain containing 2 This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009] 10 10 10 q11.22 42962487 43068811 - 49364602 49482941 - 48156559 48274898 - 1580863;6480464;8554872 12477932;16385451;17207965;19706687;20379614;21385318 143162 B4E1N9;Q68DX3 ABBA01047221;ABBA01245996;AC013284;AC074325;AK123038;AK131386;AK303923;AMYH02022972;AMYH02022973;AY491519;BC031614;BC040910;BC073954;BC144636;BC144639;CH471187;CR749241;DC342800;DC425871;KF455233;NM_001018071;NM_001042512 AAH31614;AAH73954;AAI44637;AAI44640;AAI56409;AAI57132;AAS79660;ADQ32010;BAC85520;BAD18537;BAG64851;CAH18097;EAW93139;EAW93140;EAW93141;NP_001018081;NP_001035977;Q68DX3 Hs.664786;Hs.709611 1715097;5125606;5127605 D10S1869;RH119500;WI-15516 MGC178184;MGC178187;MGC35285;MGC87776;MGC87777;MGC90186;PDZD5C;PDZK4;PDZK5C FERM and PDZ domain-containing protein 2;OTTHUMP00000019549;OTTHUMP00000179094;OTTHUMP00000217275;PDZ domain containing 5C;PDZ domain-containing protein 4;PDZ domain-containing protein 5C APPROVED protein-coding ENSG00000170324 HGNC:28572 17019 613323 VALIDATED 1343697 FSCB fibrous sheath CABYR binding protein ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN sperm fibrous sheath (inferred); sperm principal piece (inferred) 14 14 14 q21.2 24834054 24837201 - 44973352 44976499 - 44504149 44507296 - 8554872 11076863;11230166;12477932;15489334;15489336;16344560;16381901;17855365;23251661 84075 Q5H9T9 ABBA01018037;AK124110;AK302615;AL136775;AL356022;AMYH02029094;BC039878;CH471078;CR933608;CR933626;DB036759;NM_032135 AAH39878;BAG54007;BAH13762;CAB66709;CAI45927;CAI45935;CAL37864;EAW65797;NP_115511;Q5H9T9 Hs.307086 1714979 RH120827 C14orf155;DKFZp434F1017;DKFZp686A1639;DKFZp686J0539 OTTHUMP00000178911;chromosome 14 open reading frame 155;fibrous sheath CABYR-binding protein protein-coding ENSG00000189139 HGNC:20494 12638 611779 VALIDATED 1322704 FRZB frizzled-related protein The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010] 2 2 2 q32.1 177294242 177327734 - 183698002 183731498 - 182833275 182866770 - 1580863;6480464;7240710;7365107;8554872 23085770 10728394;12055200;12477932;15210948;15221014;15340161;15489334;15818669;16344560;16889986;17195216;17237116;17420170;17471511;17600823;17680269;17702698;18166153;18344084;18406176;18451162;19067193;19453261;19479880;20043861;20080650;20160027;20208569;20237151;21494614;21900206;22544526;23192594;23207650;23516639;23572277;24286177;24330105;8824257;9096311;9118218;9178261 2487 D9ZGF6;Q92765 ABBA01062301;AC105396;AC108514;AK130009;AK312741;AMYH02005373;AU117730;BC027855;BE549700;BF058813;BT019883;CH471058;HM015594;KF510216;NG_017197;NM_001463;U24163;U68057;U91903 AAB51298;AAC50736;AAC51217;AAH27855;AAV38686;AAX93117;AAY24241;ABM81870;ABM85032;ADL14515;BAG35611;EAX10958;NP_001454;Q92765 Hs.128453 1756731;2140635;2151066;2151068;2156781;2156783 A005Z38;D2S2906;G20632;RH12577;SHGC-143852;WI-11019 FRE;FRITZ;FRP-3;FRZB-1;FRZB-PEN;FRZB1;FZRB;OS1;SFRP3;SRFP3;hFIZ;sFRP-3 OTTHUMP00000163420;frezzled;frizzled homolog-related;frizzled-related protein 1;secreted frizzled-related protein 3 APPROVED protein-coding ENSG00000162998 HGNC:3959 07282 165720;605083 REVIEWED 1319003 FSCN2 fascin actin-bundling protein 2, retinal This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25 76139079 76148244 + 79481022 79504156 + 81513995 81537130 + 1598962;1580863;6480464;7240710;8699517;8554872 11527955 10234509;10783262;10892848;12477932;14609921;14661542;15489334;16280978;17251446;18450588;18498068;19207554;19473443;20301590;20410808;21975552;24070574;24414419;8889549 25794 O14926 AA046878;AA059324;ABBA01032151;ABBA01032152;AC137896;AC139149;AF030165;AF066062;AF066063;AF066064;AF066065;AI189621;AMYH02034131;BC126295;BC130330;CH471099;HG509556;NG_015964;NM_001077182;NM_012418;XM_005257195;XM_005257196 AAB86481;AAC18604;AAI26296;AAI30331;ADR83183;EAW89654;NP_001070650;NP_036550;O14926;XP_005257252;XP_005257253 Hs.118555 RFSN;RP13-766D20.2;RP30 OTTHUMP00000236019;OTTHUMP00000236020;fascin homolog 2, actin-bundling protein, retinal;fascin-2 APPROVED protein-coding ENSG00000186765 HGNC:3960 06366 607643;607921 REVIEWED 1353389 FSD1L fibronectin type III and SPRY domain containing 1-like FOUND IN intracellular (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 9 9 9 q31 78715679 78816545 + 108210077 108314714 + 105447796 105552433 + 6480464 11267680;12477932;15164053;15342556;19448620;20800088;21832049;23503679;24250222 83856 B7Z3W5;C9JD05;F8W946;Q8N450;Q9BXM9 ABBA01042814;ABBA01042815;AF088031;AF316830;AK296433;AK299350;AK299491;AK309817;AL158070;AL161627;AMYH02021398;BC036746;BP219536;BP229804;BP365251;CH471105;CR936789;DN999402;NM_001145313;NM_001287191;NM_001287192;NM_031919;XM_005252254;XM_005252256;XM_005252257;XM_005252260 AAH36746;AAK26748;BAH12351;BAH13012;BAH13049;EAW59000;NP_001138785;NP_001274120;NP_001274121;NP_114125;Q9BXM9;XP_005252311;XP_005252313;XP_005252314;XP_005252317 Hs.136901 1685183;1689428;1714305;1723749;1760015;1786988;1787160;1849402;2112124;2122974;2137019;2158710 1828;D14S1301;D9S2105;RH118610;RH119933;RH1628;RH74830;SHGC-106420;SHGC-147055;SHGC-156126;STS-N20810;WI-14739 CCDC10;CSDUFD1;FSD1CL;FSD1NL;MGC45564;MIR1 FSD1 C-terminal like;FSD1 N-terminal like;FSD1 N-terminal-like protein;FSD1-like protein;OTTHUMP00000183453;OTTHUMP00000212556;OTTHUMP00000212557;OTTHUMP00000212558;OTTHUMP00000212559;coiled-coil domain containing 10;coiled-coil domain-containing protein 10;cystatin and DUF19 domain containing 1 protein-coding ENSG00000106701 HGNC:13753 14641;16688 609829 VALIDATED 1348073 FSGS1 focal segmental glomerulosclerosis 1 ASSOCIATED WITH Glomerulosclerosis, Focal Segmental (inferred) 7240710 9461087 10685 HGNC:3962 603278 1347721 FSGS2 focal segmental glomerulosclerosis 2 ASSOCIATED WITH Focal Segmental Glomerulosclerosis 2 (inferred) 7240710 10368108 10684 HGNC:3963 603965 1345798 FSD1 fibronectin type III and SPRY domain containing 1 This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009] 19 19 19 p13.3 627256 628117 - 4304591 4323843 + 4304594 4323846 + 6480464;8554872 11267680;12154070;12445389;12477932;14702039;16169070;16344560;18029348;21139048;21890473;24250222 79187 M0QY68;M0R1R0;M0R2F6;M0R366;Q9BTV5 ABBA01056080;AC008616;AF316829;AK021750;AK295523;AK303606;AK315661;AMYH02035283;AY032617;BC003124;BC016442;CA749067;CH471139;DA690632;NM_024333;XM_005259644;XM_006722886;XR_430155 AAH03124;AAK26747;AAK51145;ABM82759;ABM85946;BAB13885;BAG38027;BAG58437;BAG64621;EAW69236;EAW69237;EAW69238;NP_077309;Q9BTV5;XP_005259701;XP_006722949 Hs.28144 1678665;2160104 RH91102;WI-18176 GLFND;MGC3213;MIR1 MID1-related protein 1;fibronectin type 3 and SPRY (spla, ryanodine) domain containing (with coiled-coil motif) 1;fibronectin type 3 and SPRY domain containing 1;fibronectin type III and SPRY domain-containing protein 1;microtubule-associated protein GLFND;midline 1-related protein 1 APPROVED protein-coding ENSG00000105255 HGNC:13745 17021 609828 REVIEWED 8176976 FSCN1P1 fascin actin-bundling protein 1 pseudogene 1 15 15 15 q14 11595287 11598059 + 34786497 34789279 + 34494296 34497078 + 12902483 145989 ABBA01038530;AC027139;AMYH02030169;AY044230;NG_002332 pseudo HGNC:49669 INFERRED 1349911 FRY furry homolog (Drosophila) ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 13 13 13 q13.1 13672265 13937607 + 32605269 32870794 + 32031300 32296657 + 6480464;8554872 12586822;14702039;15057823;16196087;19327996;19773279;20379614;21906983;22753416;23382691;23443559;23602568;23886946;8812419;9847074 10129 B1ALA1;F5H4D2;H0YE00;Q5JS89;Q5TBA9 AA993094;ABBA01010130;ABBA01010131;ABBA01010132;ABBA01010133;AC000062;AC002483;AK091422;AK298021;AL049784;AL137143;AL138692;AL445212;AMYH02027819;AMYH02027820;AMYH02027821;AMYH02027822;BX537670;CH471075;KF455761;NM_023037;U50534;U57961;XM_006719749;Z74739 AAB46343;AAC35295;BAC03659;BAG60324;CAB42442;CAC94764;CAC94765;CAD97805;EAX08489;EAX08490;EAX08491;EAX08492;EAX08493;EAX08494;EAX08495;NP_075463;Q5TBA9;XP_006719812 Hs.507669;Hs.718654 1647658;1708830;1719399;1733290;1847565;2112084;2112086;2112092;2113348;2113424;2113452;2121412;2141698;2144555;2168454;2178976;5022200;5037740;7184753;7186158 D13S1692;D13S1698;D13S1699;D13S1735;D13S1776;D13S1791;D13S211;D13S644;D13S847E;D13S916;D1S3691;G29188;L18426;RH123428;RH44751;RH44798;SHGC-81083;STS-T77470;STS-T92327 13CDNA73;214K23.2;C13orf14;CG003;bA207N4.2;bA37E23.1 OTTHUMP00000018221;WUGSC:H_2G3A.1;chromosome 13 open reading frame 14;protein furry homolog protein-coding ENSG00000073910 HGNC:20367 10821 614818 VALIDATED 1346762 FSHMD1A facioscapulohumeral muscular dystrophy 1A 7240710 2489 HGNC:3966 1315740 FSIP1 fibrous sheath interacting protein 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH acetylsalicylic acid; bisphenol A; copper atom 15 15 15 q14 16655072 16838307 - 39886422 40075039 - 39594171 39782838 - 737633;6480464;8554872 12477932 12606363;14702039;20379614;20513247;21832049;23251661;23905897 161835 H0YNV9;Q8NA03 ABBA01038471;AC023908;AC037198;AK093308;AMYH02030226;AMYH02030227;AMYH02030228;AY260140;BC045191;BX642685;CH471125;NM_152597;XM_005254208;XM_005254209;XM_006720416;XM_006720417;XM_006720418 AAH45191;AAP20066;ADZ16011;BAC04128;EAW92382;EAW92383;EAW92384;NP_689810;Q8NA03;XP_005254265;XP_005254266;XP_006720479;XP_006720480;XP_006720481 Hs.129598 1710074;1715785;1750011;1765303;1858495;2111224;2117100;2186671 D15S480;RH119341;SHGC-111709;SHGC-148796;SHGC-23798;SHGC-83695;SHGC-9365;T15358 FLJ35989;HSD10 OTTHUMP00000160315;fibrous sheath-interacting protein 1 protein-coding ENSG00000150667 HGNC:21674 08201 615795 VALIDATED 1349442 FSHMD1B facioscapulohumeral muscular dystrophy 1B ASSOCIATED WITH Facioscapulohumeral Muscular Dystrophy 1B (inferred) 7240710 2490 HGNC:3967 158901 1353847 FSCN3 fascin actin-bundling protein 3, testicular ENCODES a protein that exhibits actin filament binding (inferred); protein binding, bridging (inferred); FOUND IN actin cytoskeleton (ortholog); INTERACTS WITH benzo[a]pyrene; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 q31.3 122037417 122045564 + 127233689 127241851 + 127593635 127601797 + 1580863;6480464 10783262;11925108;12477932;12690205;15489334;17567994;8125298 29999 B4DU68;F8WDZ8;Q9NQT6;R4GN86 ABBA01057684;AC000357;AC073934;AF281049;AK225867;AK300518;AK314050;AMYH02016707;BC035606;CH236947;CH471070;NM_020369 AAF91439;AAH35606;ABM82995;ABM86188;BAG36759;BAG62230;EAL24319;EAW83632;NP_065102;Q9NQT6 Hs.712692 1691804;1804788;1806892;1809496;1814436;1821340;1823682;1827238;1828464;1834268;2088830;2088832;2088834;2088836;2088838;2088840;2088842;2088844;2088846;2088848;2088850;2088852;2088854;2088856;2088858;2088860;2088862;2088864;2088866;2088868;2088870;2088872;2088874;2088876;2088878;2088880;2088882;2088884;2088886;2088888;2088890;2088892;2088894;2088896;2088898;2088900;2088902;2088904;2088906;2088908;2088910;2088912;2088914;2196932;2196934;2196936;2196938;2196940;2196942 AF047019;ECD03327;ECD04411;ECD05740;ECD08247;ECD11753;ECD12933;ECD14734;ECD15359;ECD18282;REN115674;REN115675;REN115676;REN115677;REN115678;REN115679;REN115680;REN115681;REN115682;REN115684;REN115685;REN115686;REN115687;REN115688;REN115689;REN115690;REN115691;REN115692;REN115693;REN115694;REN115695;REN115696;REN115697;REN115698;REN115699;REN115700;REN115701;REN115702;REN115703;REN115704;REN115705;REN115706;REN115707;REN115708;REN115709;REN115710;REN115711;REN115712;REN115713;REN115714;REN115715;REN115716;REN115717;stSG613726;stSG613727;stSG613728;stSG613729;stSG613730;stSG613731 OTTHUMP00000024553;fascin homolog 3, actin-bundling protein, testicular;fascin-3;testis fascin APPROVED protein-coding ENSG00000106328 HGNC:3961 17020 615800 VALIDATED 1602400 FSIP2 fibrous sheath interacting protein 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH pirinixic acid (ortholog) 2 2 2 q32.1 180199128 180293792 + 186603355 186698016 + 185738628 185833289 + 6480464;8554872 11181995;12477932;12606363;14702039;16751776;20379614;20877624;24654937 401024 J3QTJ6 ABBA01062326;ABBA01062327;ABBA01062328;AC007966;AC008174;AK092099;AK126036;AK126051;AK126089;AK126104;AMYH02005397;AMYH02005398;AMYH02005399;BC121088;BC121089;BC128052;BC148281;BX647691;BX648733;CH471058;CR936597;DQ573063;NM_173651 AAI21089;AAI21090;AAI28053;AAY14863;AAY15001;BAC03804;BAC86406;BAC86432;BAC86442;CAI46017;CAI56743;EAX10939;EAX10940;NP_775922;Q5CZC0 Hs.98025 DKFZp781I24108;FLJ34780;FLJ44048;FLJ44063;FLJ44101;FLJ44116 OTTHUMP00000204537;fibrous sheath-interacting protein 2 APPROVED protein-coding ENSG00000188738 HGNC:21675 13483 615796 VALIDATED 1349045 FSP fibroblast secretory protein 2909392 2493 HGNC:3970 8694819 FSIP2-AS1 FSIP2 antisense RNA 1 2 185756219 185788201 - 102724349 ABBA01062326;ABBA01062327;ABBA01062328;AC008174;AMYH02005397;AMYH02005398;XR_425501;XR_427202;XR_431514 ncrna HGNC:40978 MODEL 69084 FSHB follicle stimulating hormone, beta polypeptide The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 11 11 11 p13 30398958 30403219 + 30252563 30256824 + 30231016 30235277 + 1601221;1580863;6480464;6907045;7240710;8554872;8699517 8220432 10391209;10395410;10563789;10737800;11076863;11119757;11222739;11501762;11502795;11900895;12036966;12161499;12374801;12477932;1249074;12568849;12568861;12665510;12963710;14557487;14585810;14602737;14718574;15271874;15489334;15662415;16100240;16554811;17045735;17079072;17227474;18068163;18240029;18402948;18567894;18653705;19054012;19064572;19324968;19574343;19598235;19734592;19897680;20233786;20488225;20634197;20734064;20814826;20869425;21149714;21720063;21733993;22000911;22791757;23015653;23118424;23160221;23380184;23423746;23426431;23504007;23766128;23850305;2494176;2885163;3139991;3151250;4368999;4835136;6774759;7850869;9271483 2488 P01225;Q27RP3 ABBA01060940;AL358944;AMYH02024532;BC113488;BC113490;BI033915;CD108062;CH471064;DQ386645;DQ434892;EF198021;EF585489;EF585490;EU081884;M16646;M16647;M24540;M54914;NG_008144;NM_000510;NM_001018080 AAA52470;AAA52476;AAB02868;AAI11849;AAI13489;AAI13491;ABD46886;ABD84005;ABM88373;ABQ57401;ABQ57402;ABU96749;ADR83472;EAW68260;NP_000501;NP_001018090;P01225 Hs.36975 1742517;1850754;2113968;2133308 FSHB;GDB:197841;SHGC-35592;STS-M54914 FSH-B;FSH-beta OTTHUMP00000232881;OTTHUMP00000232882;follicle-stimulating hormone beta subunit;follitropin beta chain;follitropin subunit beta;follitropin, beta chain APPROVED protein-coding ENSG00000131808 HGNC:3964 00644 136530;229070 REVIEWED 1352008 FSIP2 fibrous sheath interacting protein 2 q32.1 1580863 11181995;12477932;12606363;14702039 285135 H0Y515;H7BZL6;Q0IJ58;Q5CZC0;Q8NAU3 AC007966;AC008174;AK092099;BC121088;BC121089;BC128052;BC148281;CH471058;CR936597;NM_173651 AAI21089;AAI21090;AAI28053;AAY14863;AAY15001;BAC03804;CAI56743;EAX10939;EAX10941;NP_775922;Q0IJ58;Q5CZC0;Q8NAU3 Hs.376600 1686430;1715815;2137206;5115198;5118342 D11S2442;D11S3206;D2S2069;RH119604;RH92115 FLJ34780 protein-coding HGNC:21675 08177 615796 1346005 FSD2 fibronectin type III and SPRY domain containing 2 This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 15 15 15 q25.2 61105821 61152609 + 83426827 83474850 - 82755365 82806097 - 6480464 12477932;14702039;16344560;20966410;24722188 123722 A1L4K1;B7ZM05;H0YLA8 ABBA01029428;ABBA01029429;ABBA01029430;AC044907;AC105339;AK122875;AL833295;AMYH02030914;BC130569;BC144175;BC144181;DA826684;NM_001007122;NM_001281805;NM_001281806;XM_005272425;XM_005272426;XM_005272429;XM_005272430 A1L4K1;AAI30570;AAI44176;AAI44182;ADR83407;BAG53773;NP_001007123;NP_001268734;NP_001268735;XP_005272482;XP_005272483;XP_005272486;XP_005272487 Hs.719372 1337090;1644097;1687279;1856545;5014051;5015619;5037552;5093616;5118444 D11S3114;D11S3316;D15S811;D15S812;D8S2278;D8S2279;G32823;RH67515;STS-AA035565 RP11-127F21;SPRYD1 SPRY domain containing 1;SPRY domain-containing protein 1;fibronectin type III and SPRY domain-containing protein 2 protein-coding ENSG00000186628 HGNC:18024 17291 REVIEWED 735571 FSHR follicle stimulating hormone receptor The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 2 2 2 p21-p16 49029941 49222277 - 49189296 49381666 - 48962157 49154527 - 1580863;704404;1601232;1601234;1601236;2289157;6480464;7240710;8554872;8699517 11994539;12930928;7553856;9100567 10379886;10391209;10395410;10715554;11383926;11889179;11988313;12036966;12039074;12059813;12095499;12145341;12356937;12374801;12398222;12403847;12477932;12571157;12850288;12869592;12907758;12915623;12930927;12960054;12969700;1301382;1322283;1359889;14556822;14695976;14726491;14998941;15037410;15070827;15080154;15166252;15196694;15249125;15489334;15579795;15625767;15662415;15817654;15886248;15889138;15890674;15948771;15950638;15955888;15970792;16026410;16084888;16168216;16213843;16338864;16344560;16452461;16574671;16758348;16762186;16864747;16871362;16887887;17030088;17045734;17045735;17059863;1709010;17092637;17169182;17169197;17259794;17272391;17288166;17296182;17356048;17393121;17544358;17556863;17603635;17609213;17706202;17721928;17848411;17937064;18062861;18159088;18178196;18199880;18214954;18240029;18321487;18430895;18577758;18591890;18603647;18645675;18697861;18753112;19017414;19029293;19031050;19032691;19093296;19147210;19172541;19181441;19339009;19342032;19387820;19400992;19401323;19403562;19458022;19539204;19539911;19550076;19574343;19825393;19913121;19933466;20170288;20184506;20223709;20237833;20335500;20362966;20374735;20399696;20454649;20467586;20514429;20569270;20628086;20634197;20646572;20716560;20734064;20801186;20817169;20843821;20923822;20932654;21063764;21105990;21151128;21222045;21269619;21270425;21285318;21334319;21474127;21533219;21546300;21658000;21680247;21752882;21792664;21865747;22207559;22265040;22401810;22414334;22421444;22429116;22513137;22641019;22732316;22760496;22791757;22802634;22885925;22915343;22985084;22985950;23013557;23042261;23086931;23118426;23380184;23394253;23413141;23419799;23470615;23504007;23536150;23561021;23614677;23648065;23660593;23825122;23850305;23884663;23951246;24009160;24051057;24058690;24167601;24205076;7916967;7926278;8230163;8432542;8747461;8855829;9020851;9408742;9528938;9769327;9851774 2492 C9JDA1;F8WBM4;P23945 ABBA01075199;ABBA01075200;AC007189;AC079394;AC092533;AK292562;AK301899;AK310367;AMYH02003787;AY429104;BC096831;BC118548;BC125270;CH471053;DB064473;JN003607;M65085;M95489;NG_008146;NM_000145;NM_181446;S59900;S73199;S73526;X68044 AAA52477;AAA52478;AAB26480;AAB32071;AAB32225;AAH96831;AAI18549;AAI25271;AAR07899;AAX88895;AAX93229;AEI86722;BAF85251;BAG63327;CAA48179;EAX00187;EAX00188;EAX00189;NP_000136;NP_852111;P23945 Hs.1428 1661558;1711268;1751269;2107125;2154382;2190597;5095199 Clen29;D2S2824;FSHR;FSHR__6759;RH69164;SHGC-105129;SHGC-89265 FSHRO;LGR1;MGC141667;MGC141668;ODG1 FSH receptor;OTTHUMP00000159573;OTTHUMP00000159574;OTTHUMP00000200511;follicle-stimulating hormone receptor;follitropin receptor APPROVED protein-coding ENSG00000170820 HGNC:3969 00639 136435;233300;276400;608115 REVIEWED 1350076 FSTL6 follistatin-like 6 15527507 404757 HGNC:18207 1315715 FSTL5 follistatin-like 5 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2-methylcholine; aflatoxin B1; atrazine 4 4 4 q32.3 159637150 160417298 - 162305044 163085186 - 161383892 162164034 - 6480464;8554872 10574462;12477932;15489334;15527507;16344560;20379614;20966902;21911727;8358434 56884 Q8N475 AA350666;AB033089;ABBA01070244;ABBA01070245;ABBA01070246;ABBA01070247;ABBA01070248;ABBA01070249;ABBA01070250;ABBA01070251;ABBA01070252;ABBA01070253;AC023136;AC079227;AC084281;AC096717;AC104793;AC105251;AC108163;AK315152;AL137695;AMYH02010398;AMYH02010399;AMYH02010400;AMYH02010401;AMYH02010402;AMYH02010403;AMYH02010404;BC036502;BC036945;BC073978;BI549596;CH471056;DA243182;NM_001128427;NM_001128428;NM_020116 AAH36502;AAY40934;AAY40948;AAY41023;BAA86577;CAB70877;EAX04846;NP_001121899;NP_001121900;NP_064501;Q8N475 Hs.32452 1338646;1341954;1342236;1645592;1646041;1648000;1674644;1685938;1686716;1695908;1696630;1707742;1709908;1713421;1716927;1753567;1754805;1756221;1765169;1776906;1789088;1853337;2114276;2151179;2163766;2173161;2176481;2181616;5093430;7186907;7186911 AFM296vd1;D4S1028;D4S1598;D4S1626;D4S1653;D4S2419;D4S2658;D4S2843;D4S393;D4S928;G10392;G10628;G32713;G65679;RH119567;RH121839;RH35825;RH98482;SHGC-107459;SHGC-141721;SHGC-143090;SHGC-148680;SHGC-18462;SHGC-30815;SHGC-50424;SHGC-59701;SHGC-78864;SHGC-82087;SHGC-82942;SHGC-84804 DKFZp566D234;KIAA1263 OTTHUMP00000220147;OTTHUMP00000220198;OTTHUMP00000220199;follistatin-like protein 5;follistatin-related protein 5 protein-coding ENSG00000168843 HGNC:21386 10998 VALIDATED 5686931 FTCD-AS1 FTCD antisense RNA 1 q22.3 100861507 AA905381;AI217733;AP001475 Hs.570448 APPROVED ncrna HGNC:40243 1348302 FSTL3 follistatin-like 3 (secreted glycoprotein) Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [provided by RefSeq, Jul 2008] 19 19 19 p13 134214 141222 - 676389 683392 + 676389 683392 + 1580863;6480464 10737800;11459787;11571638;11948405;12194980;12397211;12477932;12531697;12697670;12970321;12975309;14739256;15130517;15340161;15451575;15489334;15527507;15574124;16150905;16336961;16338475;16627583;16935389;17296189;17395406;17671190;17868029;17878677;17959243;18617621;18768470;19740438;20007937;20063262;21829661;21963094;22052913;22122995;22395277;22476926;22568578;22915069;24250222;9671416 10272 K7EM71;K7ES54;O95633 ABBA01002580;AC004156;AC112708;AK291958;AK311521;AK311566;AK313341;AL050194;AMYH02035119;AY358917;BC005839;BC033119;BQ319646;BX439786;CH471242;NM_005860;U76702 AAC64321;AAH05839;AAQ89276;BAF84647;EAW61165;EAW61166;NP_005851;O95633 Hs.529038 1679575;1788802;1791115 REU1903;RH139332;RH16457 FLRG;FSRP follistatin-like protein 3;follistatin-related gene protein;follistatin-related protein 3 APPROVED protein-coding ENSG00000070404 HGNC:3973 05632 605343 REVIEWED 7245836 FTCDNL1 formiminotransferase cyclodeaminase N-terminal like ENCODES a protein that exhibits folic acid binding (inferred); transferase activity (inferred); INVOLVED IN metabolic process (inferred) 2 2 2 q33.1 194380379 194471036 - 200625259 200715896 - 199760536 199851173 - 12477932;21573128;23303384;23648065;23974872 348751 E5RQL4;H3BMM2;H3BRX2;H3BUS8 AB568489;ABBA01062507;ABBA01062508;AC073043;AMYH02005532;BC039445;BF431605;CH471063;NR_034096 BAJ46228;E5RQL4;EAW70188 Hs.734578 2127556;2179340 RH16249;SGC34873 FONG ncrna ENSG00000226124 HGNC:48661 614308 VALIDATED 1316293 FSTL4 follistatin-like 4 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; all-trans-retinoic acid; arsenous acid 5 5 5 q31.1 128660188 129071771 - 132532152 132948223 - 133196460 133612532 - 6480464;8554872 10470851;12477932;14702039;15489334;15527507;17554300;17975119;19023099;20379614;21987572;22384028 23105 D6RHU5;Q6MZW2 AB028984;ABBA01068775;ABBA01068776;ABBA01068777;ABBA01068778;ABBA01068779;AC005195;AC010307;AC010608;AC012614;AK026109;AK055684;AK056284;AMYH02012226;AMYH02012227;AMYH02012228;AMYH02012229;AMYH02012230;AMYH02012231;AMYH02012232;AMYH02012233;BC024300;BX640845;CH471062;KC877098;KF510884;NM_015082 AAH24300;BAA83013;BAG51665;CAE45915;EAW62291;EAW62292;NP_055897;Q6MZW2 Hs.483390 1661214;1662466;1667659;1700898;1706782;1708136;1721947;1740425;1740433;1748773;1763615;1775975;1780658;1780660;1780670;1780676;1780678;1780716;1780718;2138476;2138478;2140665 A005Z37;D5S1876;D5S2236E;D5S2242E;D5S2456;G20631;G59858;L28357;NIB2010;RH104076;RH45503;SHGC-110398;SHGC-147304;SHGC-80860;SHGC-81470;bac51535S;bac51535T;bac5155T;bac51578S;bac51579S;bac5177S;bac5177T OTTHUMP00000222585;follistatin-like protein 4;follistatin-related protein 4 protein-coding ENSG00000053108 HGNC:21389 17022 VALIDATED 1353736 FTH1P10 ferritin, heavy polypeptide 1 pseudogene 10 5 5 5 p15.1 17379804 17380722 - 17353822 17354740 - 17353713 17354631 - 2821803;3862645 2502 ABBA01020695;AC026785;AMYH02010947;NG_003028 FTHL10 APPROVED pseudo HGNC:3980 INFERRED 1350488 FTH1P11 ferritin, heavy polypeptide 1 pseudogene 11 8 8 8 q21.13 78438717 78439630 - 82433755 82434668 - 81521520 81522433 - 3862645 2503 ABBA01004052;AC023644;AMYH02018314;NG_007332 FTHL11 APPROVED pseudo HGNC:3981 INFERRED 734008 FST follistatin Follistatin is a single-chain gonadal protein that specifically inhibits follicle-stimulating hormone release. The single FST gene encodes two isoforms, FST317 and FST344 containing 317 and 344 amino acids respectively, resulting from alternative splicing of the precursor mRNA. In a study in which 37 candidate genes were tested for linkage and association with polycystic ovary syndrome (PCOS) or hyperandrogenemia in 150 families, evidence was found for linkage between PCOS and follistatin. [provided by RefSeq, Jul 2008] 5 5 5 q11.2 49730217 49735545 + 52776183 52782964 + 53480355 53487134 + 737711;1601259;1580863;6480464;6484113;6907045 10411917;7885475 10702675;11232039;11580864;11948405;12099690;12242034;12477932;12514121;12531697;12651901;12697670;12702211;12720540;14563935;14578849;15064726;15296481;15340161;15451575;15472207;15489334;15574124;16150905;16198295;16336961;16627583;16935389;17053951;17284512;17296189;17347381;17644811;17893249;17991437;18001154;18184649;18245525;18319260;19011242;19106105;19346981;19453261;19460752;19470636;19520047;19597895;19740438;20093255;2036994;20623366;20628624;20634891;20734064;20801187;20843798;20926007;21068158;21222045;21350111;21496809;21829661;21846490;21900206;21900845;22395277;22416010;22685544;22693174;22809401;23010638;23023351;23113792;23171678;23249626;23265961;23304117;23432377;23523567;23564759;24204752;24332943;24577120;24667650;3380788;7887917;8288705;8536619;8836491;9799587;9828086 10468 H0YA75;H0YAF9;P19883 AB451330;AB451474;ABBA01015718;AC008901;AMYH02011294;BC004107;BQ941144;BQ949678;CH471123;CR541813;DR760015;M19481;NG_028911;NM_006350;NM_013409;XM_005248400;XM_005248401;XM_005248402;XM_005248403 AAA35851;AAH04107;ABM84359;ABM87744;BAG70144;BAG70288;CAG46612;EAW54880;EAW54881;EAW54882;EAW54883;NP_006341;NP_037541;P19883;XP_005248457;XP_005248458;XP_005248459;XP_005248460 Hs.9914 2113782;5091527 FST;SGC33112 FS OTTHUMP00000161829;OTTHUMP00000221842;OTTHUMP00000221843;activin-binding protein;follistatin isoform FST317 APPROVED protein-coding ENSG00000134363 HGNC:3971 00641 136470 REVIEWED 1349879 FTH1P13 ferritin, heavy polypeptide 1 pseudogene 13 14 14 14 q23.3 46426570 46427246 - 66367492 66368168 - 65900774 65901450 - 2307464;2821803;3840162;3862645 646362 ABBA01023731;AL391261;AMYH02029383;NG_007334;U26556 FTHL13;FTHP3 APPROVED pseudo HGNC:3983 VALIDATED 69033 FSTL1 follistatin-like 1 This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 118522464 118579350 - 120113061 120169918 - 120394214 120451071 - 1299173;1580863;6480464;8554872 7957230 11150499;12477932;15296481;15340161;15489334;15621726;15638044;16256108;16335952;16344560;16502470;17029022;18617621;18718903;18796737;19060904;19109154;20080650;20347265;20860622;21303509;21718795;22117761;22265692;23251661;23395958;23419164;24470197;9786430 11167 C9J5G4;H7C4W4;Q12841 AB119283;ABBA01061565;ABBA01061566;AC063952;AC078982;AF288537;AI813946;AK025860;AK289388;AK291138;AK300356;AK300436;AK311050;AK312261;AL050228;AMYH02007512;AMYH02007513;BC000055;BC017413;BX647421;CH471052;DB289587;NM_007085;U06863 AAA66062;AAH00055;AAK01083;BAD12167;BAF82077;BAF83827;BAG35192;BAG62097;BAG62160;EAW79526;EAW79527;NP_009016;Q12841 Hs.269512 1652584;1673277;1735298;1858159;2112610 D3S2939E;D3S3330;D3S4366;SHGC-77232;SHGC-77238 FLJ50214;FLJ52277;FRP;FSL1;MIR198 OTTHUMP00000215346;OTTHUMP00000215347;follistatin-like protein 1;follistatin-related protein 1 APPROVED protein-coding HGNC:3972 16120 605547 REVIEWED 732498 FTH1 ferritin, heavy polypeptide 1 This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 11 11 11 q13 59067058 59070433 - 61731757 61735132 - 61964285 61967660 - 737708;632698;1580863;737792;2315110;6480464;6907045;7240710;8699517;8554872 10652280;11389486;18992754;9054589 10833524;10855793;11031247;11252894;11591653;11783942;11821435;11903046;11964300;11988076;12387819;12435735;12477932;14615048;14702039;14998975;15123426;15302935;15388255;15489334;15604093;15607035;15727900;15755449;15967798;16169070;16189514;16964243;16969126;17070541;17081983;17116749;17702748;17761032;17970701;18160403;18621011;18985028;19023418;19056867;19126685;19471022;19539693;19821764;19855093;19910193;1992356;20088381;20110920;20133674;20195357;20360068;20390345;20705053;20877624;20936779;21029774;21139048;21385903;21413929;21555518;21573799;21674799;21800051;21829377;21890473;21988832;22020807;22043922;22117997;22212821;22426960;22443280;22675492;22676252;22760008;22768652;22779921;22843505;22863883;22939629;23079089;23079850;23119080;23324584;23344859;23443559;23463506;23602568;23611361;23874603;23892696;24053984;24066693;24098686;24337577;3003694;3020541;3023856;3685996;3840162;3857215;3858810;6323167;6589621;659425;6653779;7504084;7616228;7821789;7916709;7931301;8630420;8889548;8915895;9159481;9581019;9924025 2495 E9PK45;E9PKM5;E9PKY7;E9PPQ4;E9PQR3;E9PRK8;G3V192;G3V1D1;P02794 AB062402;ABBA01003208;AF088851;AK311818;AMYH02024884;AP003733;AY258285;BC000857;BC001399;BC011359;BC013724;BC015156;BC015946;BC016009;BC016857;BC020300;BC035441;BC063514;BC066341;BC066961;BC070494;BC073750;BC104643;BC105802;BM971420;BQ887222;CH471076;D28463;DQ496108;L20941;M11146;M12937;M14212;M15383;M97164;NG_008346;NM_002032;X00318;X03487 AAA35830;AAA35832;AAA35833;AAA52437;AAA52438;AAA52479;AAF89523;AAH00857;AAH01399;AAH11359;AAH13724;AAH15156;AAH16009;AAH16857;AAH63514;AAH66341;AAH66961;AAH70494;AAH73750;AAI04644;AAI05803;AAP82230;ABF47097;ABM82039;ABM85219;BAA05829;BAB93489;CAA25086;CAA27205;EAW73989;EAW73990;EAW73991;EAW73992;EAW73993;EAW73994;EAW73995;EAW73996;EAW73997;EAW73998;EAW73999;EAW74000;EAW74001;NP_002023;P02794 Hs.524910;Hs.645560 1683419;1736692;1849750;1855697;5020623;5109777;5120153 D11S3983;D1S2060E;D1S2077E;G65764;GDB:197842;RH94224;STS-L20941 FHC;FTH;FTHL6;HFE5;MGC104426;PIG15;PLIF OTTHUMP00000232197;OTTHUMP00000232244;OTTHUMP00000232245;apoferritin;cell proliferation-inducing gene 15 protein;ferritin H subunit;ferritin heavy chain;placenta immunoregulatory factor;proliferation-inducing protein 15 APPROVED protein-coding ENSG00000167996 HGNC:3976 00615 134770;615517 REVIEWED 1352933 FTH1P1 ferritin, heavy polypeptide 1 pseudogene INTERACTS WITH arsenous acid; diarsenic trioxide 1 1 1 p34.3 36288154 36289049 + 38010164 38011059 + 37544563 37545458 + 6480464 3862645 2496 ABBA01023275;AL034379;AMYH02000797;NG_004768;NG_032170 FTHL1 APPROVED pseudo HGNC:3979 INFERRED 733688 FTCD formimidoyltransferase cyclodeaminase The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009] 21 21 21 q22.3 32668510 32687862 - 47556065 47575499 - 46136151 46155592 - 1580863;1300048;6480464;6907045;7240710;8554872;8699517 10029623;10773664;10830953;11278563;12477932;12815595;14759258;19048631;19056867;19161160;19204726;19913121;20209057;20494980;20628086;20634891;9677386 10841 B7WPK3;H7C315;O95954 AA719282;ABBA01021753;ABBA01021754;ABBA01021755;AC226155;AF169017;AF289021;AF289022;AF289023;AF289024;AL109817;AMYH02037945;AMYH02037946;AMYH02037947;AP001101;AP001468;AP001473;AP001475;BC032037;BC052248;BC136383;BC136395;BI966164;BM021970;CH471079;NG_016191;NM_006657;NM_206965;U91541;XM_006723960;XM_006723961;XM_006723962 AAD15627;AAF15558;AAG01852;AAG01853;AAG01854;AAG01855;AAH32037;AAH52248;AAI36384;AAI36396;EAX09308;EAX09309;EAX09310;EAX09311;EAX09312;EAX09313;EAX09314;EAX09315;NP_006648;NP_996848;O95954;XP_006724023;XP_006724024;XP_006724025 Hs.415846 1681947;1696668;1772544;1790625;2162445 RH91534;SHGC-83008;SHGC-87722;SHGC-87730;STS_CEB252 LCHC1 OTTHUMP00000115563;OTTHUMP00000115564;OTTHUMP00000115565;OTTHUMP00000115566;formimidoyltransferase-cyclodeaminase;formiminotransferase cyclodeaminase;formiminotransferase-cyclodeaminase APPROVED protein-coding ENSG00000160282 HGNC:3974 08430 229100;606806 REVIEWED 1351165 FTH1P16 ferritin, heavy polypeptide 1 pseudogene 16 11 11 11 q13 74753014 74753931 - 77445360 77446277 - 77734315 77735232 - 1395714;3003694 2508 ABBA01017423;AMYH02025139;AP000609;AP002343;NG_007337;X03486 FTH2;FTHL16 APPROVED pseudo HGNC:3986 17023 INFERRED 1626261 FTH1P19 ferritin, heavy polypeptide 1 pseudogene 19 ENCODES a protein that exhibits ferric iron binding (inferred); INVOLVED IN cellular iron ion homeostasis (inferred); iron ion transport (inferred); INTERACTS WITH valproic acid (ortholog) X X X p21.1 41488892 41489649 + 37351210 37351967 + 37491957 37492714 + 6480464 15772651 389844 P0C7X4 ABBA01047123;AC233283;AJ239329;AMYH02039169;NG_009569 P0C7X4 FTHL19 APPROVED pseudo HGNC:33525 INFERRED 1344497 FTH1P18 ferritin, heavy polypeptide 1 pseudogene 18 X X X p21.1 41185590 41186068 - 37060955 37061867 - 37042882 37043794 - 7566098 441490 AA383232;ABBA01073635;AMYH02039167;BX842568;CH471074;HY046847;HY233350;NM_001271682 EAW99084;NP_001258611 Hs.744832 FTHL18 ferritin, heavy polypeptide-like 18 APPROVED protein-coding HGNC:3988 VALIDATED 1349262 FTH1P2 ferritin, heavy polypeptide 1 pseudogene 2 1 1 1 q42.13 202090338 202090797 + 228823167 228823626 + 228687420 228687879 + 3862645 2497 ABBA01013456;AL096776;AMYH02002861;NG_007330 FTHL2 APPROVED pseudo HGNC:3989 INFERRED 1343535 FTH1P21 ferritin, heavy polypeptide 1 pseudogene 21 4 4 4 q32.1 154271404 154272329 + 156927408 156928332 + 156006256 156007180 + 7612929;9847074 2510 ABBA01070182;AC109352;AMYH02010346;NG_001121;U09962 FTHL21;FTHP2 APPROVED pseudo HGNC:3997 INFERRED 3077589 FTH1P22 ferritin, heavy polypeptide 1 pseudogene 22 1 1 1 115546212 115546701 - 117317700 117318189 - 116775078 116775567 - 100462772 ABBA01068494;AL135798;AMYH02001795;NG_022736 FTHL22 APPROVED pseudo HGNC:37640 INFERRED 3077556 FTH1P24 ferritin, heavy polypeptide 1 pseudogene 24 4 4 4 137799589 137800047 + 140467420 140467878 + 139546266 139546724 + 100462797 ABBA01069963;AC112236;AMYH02010202;NG_022082 FTHL24 APPROVED pseudo HGNC:37642 INFERRED 1347036 FTH1P12 ferritin, heavy polypeptide 1 pseudogene 12 9 9 9 p22.3 15460307 15461221 - 15526970 15527884 - 15526972 15527886 - 3862645 2504 ABBA01065277;AL513423;AMYH02019211;NG_007333 FTHL12 APPROVED pseudo HGNC:3982 INFERRED 4145187 FTH1P14 ferritin, heavy polypeptide 1 pseudogene 14 X X X p21.1 38292354 38293080 + 34165157 34165864 + 34147040 34147747 + 139431 ABBA01073355;AL591625;AMYH02039153;CH471074;NG_023176 EAW99069 hypothetical protein LOC139431 pseudo HGNC:39090 INFERRED 5131591 FTH1P26 ferritin, heavy polypeptide 1 pseudogene 26 6 6 133998026 133998539 - 133676888 133677401 - 100420303 ABBA01025869;AL078586;AMYH02014516;NG_028813 FTHL26 pseudo HGNC:37644 INFERRED 6769386 FTH1P23 ferritin, heavy polypeptide 1 pseudogene 23 3 3 3 72912313 72912865 + 72978193 72978745 + 72929042 72929594 + 100420300 ABBA01030957;AC114876;AMYH02007064;NG_025708 FTHL23 pseudo HGNC:37641 INFERRED 4145167 FTH1P27 ferritin, heavy polypeptide 1 pseudogene 27 X X X p21.1 41502251 41502947 + 37364583 37365279 + 37505330 37506026 + 100270709 ABBA01047120;AC233283;AL627244;AMYH02039169;NG_009568 pseudo HGNC:39091 INFERRED 1344317 FTH1P4 ferritin, heavy polypeptide 1 pseudogene 4 3 3 3 q21.3 126915289 126916200 - 128483149 128484064 - 128764306 128765221 - 3862645 2499 ABBA01020911;AC139617;AMYH02007628;NG_004769;NG_008070 FTHL4 APPROVED pseudo HGNC:3991 INFERRED 3077544 FTH1P25 ferritin, heavy polypeptide 1 pseudogene 25 1 1 1 158151398 158151868 - 185040697 185041167 - 185071565 185072035 - 100462799 ABBA01027725;AL109865;AMYH02002305;NG_022745 FTHL25 APPROVED pseudo HGNC:37643 INFERRED 3362323 FTH1P20 ferritin, heavy polypeptide 1 pseudogene 20 INTERACTS WITH (S)-nicotine 2 2 2 q31.3 175291956 175354961 - 181737423 181738261 - 180872696 180873534 - 6480464 729009 ABBA01062280;AC104076;AC104820;AMYH02005353;NG_023542 1769801;1783994;1856948;2125554 FB22B6;SHGC-142470;SHGC-14594;STS-Z40760 FTHL20 APPROVED pseudo HGNC:37639 INFERRED 1346379 FTHL14 ferritin, heavy polypeptide-like 14 2821803 2506 HGNC:3984 1343216 FTH1P15 ferritin, heavy polypeptide 1 pseudogene 15 6 6 6 p12 58532476 58532751 + 56869325 56869600 + 57004527 57004802 + 3862645;8045562 2507 ABBA01050487;AL590037;AMYH02013783;NG_007335;U09960 FTHL15 APPROVED pseudo HGNC:3985 INFERRED 1342654 FTH1P8 ferritin, heavy polypeptide 1 pseudogene 8 X X X q28 147485496 147486407 + 147133532 147134443 + 148052012 148052923 + 3862645 2501 ABBA01054139;AMYH02040747;L29074;NG_007336 FTHL8 APPROVED pseudo HGNC:3995 INFERRED 1347558 FTH1P3 ferritin, heavy polypeptide 1 pseudogene 3 2 2 2 p23.3 27462157 27463110 - 27615490 27616443 - 27392623 27393576 - 12477932;3862645 2498 ABBA01045204;AC074117;AMYH02003476;BC073777;NR_002201 Hs.658438 5109777 D1S2060E FTHL3;FTHL3P APPROVED pseudo HGNC:3990 PROVISIONAL 1345882 FTH1P5 ferritin, heavy polypeptide 1 pseudogene 5 INTERACTS WITH copper(II) chloride; N-acetyl-1,4-benzoquinone imine 6 6 6 p12.3 52436155 52437060 - 50880263 50881175 - 50912550 50913462 - 6480464 2307464 2509 ABBA01050577;AL049693;AL136973;AMYH02013720;J04755;NG_005639 Hs.453583 5109777 D1S2060E FTHL5;FTHP1 APPROVED pseudo HGNC:3996 INFERRED 1346340 FTL ferritin, light polypeptide This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 46335916 46337486 + 49467659 49470136 + 48965309 48966879 + 1598966;1580863;5509860;5509861;5509840;5509863;5509864;5509859;5509839;6480464;6907045;7240710;8554872;8699517 11438811;15099026;17142829;18854324;19117339;19519778;22020773;9292547 10491119;10753629;10759702;10828006;11031247;11252894;11591653;11783942;11849230;12071855;12199804;12200611;12387819;12401807;12459518;12477932;12646258;12746423;14615048;15231747;15231748;15390032;15489334;15727900;15835264;16116125;16169070;16189514;16217041;16222695;16252260;16289162;16790936;16822677;16858508;17116749;17459943;17601350;17660802;17761032;17970701;18061976;18160403;18413574;18486613;18586377;18621011;18624398;18665827;18755684;18977241;19056867;19176363;19254706;19318681;19781644;19787796;19910193;19923220;19946888;20088381;20159981;20301320;20301334;20345975;20381070;20471030;20689807;21029774;21103663;21139048;21139976;21541272;21555518;21696736;21800051;21906983;21907119;22117997;22248276;22348978;22359459;22535864;22760008;22863883;22939629;23029420;23080069;23119080;23275563;23300545;23381919;23421845;23443559;23447832;23463506;23592921;23685131;23699174;23874603;23892696;23969999;24022025;24195075;24821637;24983587;2821803;3000916;3023856;3291676;3754330;3840162;3857215;3858810;6572903;659425;6653779;7492760;7493028;7575610;8041631;8554925;8630420;8636399;8706699;8781450;8864140;9119260;9169099;9196065;9226182;9414300;9414313;9457670;9526618 2512 P02792 ABBA01032954;AC026803;AC245081;AF147331;AK026534;AK130191;AK130205;AK131048;AK131050;AK131053;AK307065;AK311773;AY207005;AY466472;AY660755;BC002991;BC004245;BC008439;BC008441;BC013928;BC016346;BC016354;BC016715;BC018990;BC021670;BC058820;BC062708;BC067772;BX571748;CH471177;CR456715;DQ094830;DQ094831;M10119;M11147;M12938;NG_008152;NM_000146;X03742;X03743;Y09188 AAA35831;AAA52439;AAA52440;AAH02991;AAH04245;AAH08439;AAH13928;AAH16346;AAH16354;AAH16715;AAH18990;AAH21670;AAH58820;AAH62708;AAO52739;AAS45711;AAT66408;AAZ04399;AAZ04400;ABM83906;ABM87227;ACE86682;ACE87366;BAG34716;CAA27382;CAA27383;CAA27384;CAA70387;CAE11873;CAG32996;EAW52422;EAW52423;NP_000137;P02792 Hs.433670;Hs.728304 1338063;1682551;1683259;1690139;1744299;1777017;1851550;2191701;5124805 D19S886;GDB:451601;MARC_5273-5274:996690236:1;RH65295;RH70278;RH70352;RH79582;SHGC-2666;SHGC-33021 LFTD;MGC71996;NBIA3 ferritin L subunit;ferritin L-chain;ferritin light chain;ferritin light polypeptide-like 3;neurodegeneration with brain iron accumulation 3 APPROVED protein-coding ENSG00000087086 HGNC:3999 00616 134790;600886;606159;615604 REVIEWED 3077558 FTLP12 ferritin, light polypeptide pseudogene 12 17 17 17 16197671 16198120 + 16294748 16295197 + 16391434 16391883 + 100462792 ABBA01035654;AC093484;AMYH02033076;NG_022455 pseudo HGNC:37961 INFERRED 1347675 FTHL17 ferritin, heavy polypeptide-like 17 This gene is orthologous to a mouse gene that encodes a ferritin heavy polypeptide-like protein and shows testis-specific expression. [provided by RefSeq, Oct 2009] X X X p21 35216874 35217686 - 31089358 31090170 - 31071241 31072053 - 1580863;6480464 11279525;12477932;12704671;14531651;15489334;16929165;19812237 53940 Q9BXU8 ABBA01073011;AC006061;AF285592;AMYH02039122;BC069069;BC069538;BC100768;BC100769;BC100770;CH471074;NG_015850;NM_031894 AAH69069;AAH69538;AAI00769;AAI00770;AAI00771;AAK31971;EAW99060;NP_114100;Q9BXU8 Hs.333125 1789456;2109325;2110517;5492407;5493059 FTHL17_9773;G65765;MARC_37603-37604:1067540108:1;UniSTS:480947;UniSTS:484057 CT38 OTTHUMP00000023116;cancer/testis antigen 38;ferritin heavy polypeptide-like 17 APPROVED protein-coding ENSG00000132446 HGNC:3987 02254 300308 REVIEWED 3077571 FTLP13 ferritin, light polypeptide pseudogene 13 17 17 17 19864774 19865199 + 21747826 21748251 + 22221220 22221645 + 100462793 ABBA01006761;AC138761;AMYH02033200;NG_022463 pseudo HGNC:37963 INFERRED 3077557 FTLP14 ferritin, light polypeptide pseudogene 14 16 16 16 53365793 53366284 + 68856487 68856978 + 68822584 68823075 + 100462794 ABBA01025505;AC099314;AMYH02032263;NG_022524 5120582 GDB:361120 pseudo HGNC:37964 INFERRED 3457134 FTLP11 ferritin, light polypeptide pseudogene 11 15 15 15 q13.1 6787557 6788269 - 29102932 29103644 - 28857786 28858498 - 100289501 ABBA01042010;AC174071;AMYH02030123;NG_023157 5022539 D15S535 pseudo HGNC:37960 INFERRED 3129621 FTLP10 ferritin, light polypeptide pseudogene 10 4 4 4 q13.2 66510247 66537534 + 69048010 69078188 + 68182292 68212470 + 100130017 ABBA01022908;AC098799;AMYH02009384;AMYH02009385;AY885668;KF459868;KF459869;KF459870;KF459876;NR_015446 Hs.582037 1719893;5015619 D11S3114;RH123639 pseudo ENSG00000250426 HGNC:37959 PROVISIONAL 1347891 FTH1P7 ferritin, heavy polypeptide 1 pseudogene 7 INTERACTS WITH cobalt dichloride 13 13 13 q12.11 4332354 4333283 - 23270001 23270930 - 22695862 22696791 - 6480464 3862645;9116028 2500 ABBA01068625;AL354828;AMYH02027680;NG_007331 FTHL7 APPROVED pseudo HGNC:3994 INFERRED 6481426 FTLP19 ferritin, light polypeptide pseudogene 19 10 10 16113415 16113808 - 16071416 16071809 - 100873960 ABBA01034579;AL359816;AMYH02022224;NG_032200 pseudo HGNC:37969 INFERRED 3302433 FTLP15 ferritin, light polypeptide pseudogene 15 7 7 7 p12.3 46136036 46136564 - 46036980 46037865 - 45997381 45998266 - 442304 ABBA01058256;AC073115;AMYH02015644;CH236958;NG_022533 pseudo HGNC:37965 INFERRED 1353556 FTLP2 ferritin, light polypeptide pseudogene 2 X X X p21.2 34765704 34770507 + 30648214 30649092 + 30630097 30630975 + 392437 ABBA01072966;AC005913;AMYH02039114;NG_017087 2191701 MARC_5273-5274:996690236:1 FTLL2 APPROVED pseudo HGNC:4001 INFERRED 1606917 FTLP3 ferritin, light polypeptide pseudogene 3 INTERACTS WITH 5-fluorouracil; cisplatin 20 20 20 p13 4066214 4067102 + 4004365 4005253 + 4023718 4024606 + 6480464 2821803;3000916;3032771;3754330 284764 ABBA01053843;AL031670;AMYH02036613;NG_002715 1658429;1690139;1777017;1851550;2191701 G01533;MARC_5273-5274:996690236:1;RH70278;SHGC-2666;SHGC-33021 FTLL1;dJ681N20.2 APPROVED pseudo HGNC:4000 INFERRED 1350618 FTLP1 ferritin, light polypeptide pseudogene 1 20 20 20 q13.12 41315212 41316363 - 44603756 44604907 - 45975117 45976268 - 170514 ABBA01052673;AL162458;AMYH02037155;NG_001037;NG_029772 FTLP;bA465L10.3 APPROVED pseudo HGNC:16547 INFERRED 3077588 FTLP6 ferritin, light polypeptide pseudogene 6 11 11 11 63866288 63866705 - 66538724 66539141 - 66771253 66771670 - 100462788 ABBA01024064;AMYH02024980;AP001157;NG_021790 1683259 RH65295 pseudo HGNC:37954 INFERRED 3322053 FTLP4 ferritin, light polypeptide pseudogene 4 9 9 9 p21.1 30863404 30864822 + 30934585 30936003 + 30934587 30936005 + 100129251 ABBA01065096;AL353745;AMYH02019391;NG_023019 pseudo HGNC:37952 INFERRED 3184433 FTLP17 ferritin, light polypeptide pseudogene 17 1 1 1 p21.1 102874689 102875269 - 104696151 104696731 - 104153529 104154109 - 23251661 642337 ABBA01028458;AC092506;AMYH02001620;CH471156;NG_023171 EAW51244 pseudo HGNC:37967 INFERRED 3077587 FTLP9 ferritin, light polypeptide pseudogene 9 4 4 4 75438958 75439405 - 78137572 78138019 - 77216419 77216866 - 100462780 ABBA01063371;AC008638;AMYH02009524;NG_022015 pseudo HGNC:37958 INFERRED 3539546 FTLP5 ferritin, light polypeptide pseudogene 5 19 19 19 p13.3 3808374 3809787 + 3870792 3872205 + 3870794 3872207 + 100131661 ABBA01002852;AC093078;AMYH02035265;NG_022975 pseudo HGNC:37953 INFERRED 3231815 FTLP16 ferritin, light polypeptide pseudogene 16 X X X 42481670 42482173 - 38344014 38344517 - 38484761 38485264 - 100420158 ABBA01047021;AF241726;AMYH02039171;NG_022590 pseudo HGNC:37966 INFERRED 3077572 FTLP8 ferritin, light polypeptide pseudogene 8 13 13 13 79486614 79486890 - 98639203 98639479 - 97986949 97987225 - 100462790 ABBA01027154;AL356580;AMYH02028557;NG_021963 pseudo HGNC:37956 INFERRED 1348564 FTMT ferritin mitochondrial ENCODES a protein that exhibits ferric iron binding (inferred); ferroxidase activity (inferred); INVOLVED IN cellular iron ion homeostasis; positive regulation of cell proliferation; positive regulation of lyase activity; PARTICIPATES IN porphyrin and chlorophyll metabolic pathway; FOUND IN nucleus; INTERACTS WITH arsenous acid; desferrioxamine B; diarsenic trioxide 5 5 5 q21.3 117141059 117141937 + 121187650 121188528 + 121851955 121852833 + 1580863;6480464;6907045 11323407;11953424;12406866;12477932;12547228;15065877;15201052;15489334;15755449;16448386;16537925;16797877;17459943;17565989;18076382;18160053;18325346;18372207;18805796;18815198;19585161;19816198;20369475;20526373;20877624;20939738;21616139;21712541;21799823;22706241;23573868;23897914 94033 Q8N4E7 ABBA01068962;AC117523;AMYH02012083;BC034419;CH471086;HC007000;HC044675;NM_177478 AAH34419;ADR83312;CBH19305;CBH30667;EAW48901;NP_803431;Q8N4E7 Hs.105324 1689733 RH92503 MTF OTTHUMP00000159158;ferritin H subunit;ferritin heavy chain-like;ferritin, mitochondrial;mitochondrial ferritin protein-coding ENSG00000181867 HGNC:17345 12316 608847 VALIDATED 6481182 FTOP1 fat mass and obesity associated pseudogene 1 2 2 43024365 43025852 - 42797225 42798712 - 100874223 ABBA01075078;AC098824;AMYH02003685;NG_032565 pseudo HGNC:43759 INFERRED 3077584 FTLP18 ferritin, light polypeptide pseudogene 18 1 1 1 35371646 35372123 + 37095936 37096413 + 36630335 36630812 + 100462786 ABBA01023293;AL080286;AMYH02000789;NG_022775 pseudo HGNC:37968 INFERRED 3436675 FTLP7 ferritin, light polypeptide pseudogene 7 11 11 11 q23.3 112564907 112565422 - 115409587 115410102 - 115538869 115539384 - 441623 ABBA01039760;AMYH02025610;AP003174;NG_021805 pseudo HGNC:37955 INFERRED 1344155 FUBP1 far upstream element (FUSE) binding protein 1 This gene encodes a ssDNA binding protein that activates the far upstream element (FUSE) of c-myc and stimulates expression of c-myc in undifferentiated cells. Regulation of FUSE by FUBP occurs through single-strand binding of FUBP to the non-coding strand. This protein has been shown to function as an ATP-dependent DNA helicase. [provided by RefSeq, Jul 2008] 1 1 1 p31.1 76652669 76683855 - 78409740 78444839 - 77947906 77979155 - 1580863;6480464 10734235;10882074;11003644;11071946;11222755;11239393;11875576;12176931;12477932;12819782;15146197;15161980;15302935;15489334;15502847;15592455;16159877;16169070;16196087;16289162;16628215;16672220;16964243;17353931;17676665;18029348;19003864;19015535;19087307;19165527;19219071;19322201;19585652;19637194;19738201;19928837;20420426;20802533;21139048;21145461;21319273;21367899;21779003;21817013;21855647;21890473;21906983;21963094;21988832;22304920;22505724;22588899;22623428;22863883;22869205;22926519;22939629;23000965;23463506;23818605;24030972;24117486;24192769;24457600;24583282;24798327;24816145;8125259 8880 B4DT31;C9JSZ1;E9PEB5;Q96AE4 AB209366;ABBA01074393;AC096948;AK300032;AK301581;AK303568;AL049951;AMYH02001308;AMYH02001309;BC010083;BC017247;BQ649331;CH471059;CN291186;KF510733;NG_033243;NM_003902;U05040;XM_005271309;XM_006711021;XM_006711022 AAA17976;AAH10083;AAH17247;ABM86845;ABW03830;BAD92603;BAG61843;BAG63073;BAG64590;EAX06356;EAX06357;EAX06358;NP_003893;Q96AE4;XP_005271366;XP_006711084;XP_006711085 Hs.567380;Hs.707742 1666115;1666117;1692620;1781718;2138898;2156911;2218774;5022691;5114653 AL034068;D1S257E;D1S3413;FUBP1;FUBP1_2823;SHGC-155233;SHGC-75032;SHGC-75042;SHGC-75049 FBP;FUBP;hDH V DNA helicase V;FUSE-binding protein 1;OTTHUMP00000038482;OTTHUMP00000038483;OTTHUMP00000038510;far upstream element binding protein;far upstream element-binding protein 1 APPROVED protein-coding ENSG00000162613 HGNC:4004 10349 603444 REVIEWED 1625089 FTO fat mass and obesity associated This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011] 16 16 16 q12.2 38252466 38662847 + 53737875 54148379 + 53703963 54114467 + 6480464;7240710;8554872;8699517 10501967;11214970;12477932;14702039;16344560;17434869;17463248;17463249;17496892;17554300;17657473;17658951;17804762;17917711;17928949;17928989;17942823;17959933;17991826;17996046;18048838;18055244;18159244;18212765;18218107;18239580;18249188;18251005;18252780;18256137;18281390;18316358;18335027;18336062;18339204;18346983;18347269;18372903;18379722;18426861;18426866;18437351;18445669;18454148;18469204;18477659;18478198;18487448;18516622;18535549;18550552;18551109;18551112;18572014;18583465;18591388;18597214;18598350;18599522;18616701;18647953;18663371;18682847;18694974;18698412;18719664;18775698;18779467;18787525;18794893;18799002;18833210;18838977;18839134;18842783;18846049;18853134;18855084;18948966;18984658;18984664;18991055;19002430;19005641;19008344;19016587;19020324;19030008;19053021;19056611;19073975;19079260;19079261;19139842;19151714;19153581;19158205;19164386;19169064;19180072;19214238;19224890;19255736;19259258;19265514;19278366;19322589;19329528;19373445;19375760;19396169;19470880;19491387;19497595;19542184;19543202;19553259;19553294;19557197;19559399;19584900;19587359;19602701;19625203;19668254;19679263;19687793;19692490;19720844;19726594;19741467;19746409;19793853;19794065;19798072;19812171;19818665;19828706;19833889;19833892;19859840;19862325;19876004;19880856;19906786;19910641;19913121;19913856;19918250;19933996;20003232;20007308;20009087;20031593;20031594;20051647;20057365;20075150;20075932;20090391;20092643;20161779;20181787;20186840;20203524;20215397;20299471;20337217;20339516;20351740;20362563;20368485;20373279;20376003;20377915;20379142;20379614;20386550;20397748;20400278;20404173;20409671;20418190;20421936;20430937;20442772;20467478;20490451;20502638;20503258;20509872;20511725;20520848;20571754;20581827;20598163;20616199;20616309;20616607;20628085;20628086;20647405;20650268;20702506;20703240;20712903;20717169;20724581;20725061;20733583;20733585;20734064;20811910;20813088;20816152;20816195;20819567;20821366;20843981;20858286;20863147;20865646;20879858;20889853;20929593;20935630;20943749;20945952;20945953;20948226;20966902;20975729;20976066;21037115;21063808;21094029;21098976;21102462;21146673;21150882;21154332;21162833;21175269;21179003;21182554;21186106;21207518;21220935;21246032;21248310;21266646;21283731;21317302;21347432;21349207;21379325;21398525;21411553;21438147;21443588;21458110;21489227;21491999;21502950;21544081;21544599;21552555;21593801;21598006;21637715;21651756;21687707;21706003;21720422;21720444;21720911;21741858;21788373;21796137;21798115;21799482;21814223;21818152;21842748;21868005;21869491;21890473;21906983;21913894;21917193;21919686;21921652;21935397;21963094;21986706;21989907;22002720;22016090;22030988;22049296;22069379;22083549;22084931;22109280;22125610;22132335;22141579;22153534;22179955;22187296;22189543;22189607;22222230;22234326;22248259;22265018;22310469;22311015;22311283;22344221;22377712;22385136;22391885;22396042;22399527;22421893;22421923;22435707;22443257;22454631;22457394;22466342;22486287;22490751;22503908;22504289;22516774;22531089;22589738;22591707;22606913;22614055;22675492;22675562;22693455;22695173;22724641;22763110;22791637;22797368;22801903;22817777;22836643;22842737;22847851;22857884;22863883;22865603;22872099;22891219;22901973;22931202;22956599;22982992;23000965;23091647;23111453;23130628;23134754;23136261;23138007;23142383;23154192;23155422;23155456;23160181;23164817;23165561;23201545;23201753;23209189;23218460;23236435;23236985;23251365;23254338;23258813;23284729;23284998;23300277;23341774;23342142;23359686;23433430;23438152;23447422;23455637;23461169;23490278;23497514;23505181;23509208;23512716;23535729;23535733;23563607;23563609;23573268;23583978;23588626;23591406;23628854;23636237;23653210;23669352;23689376;23691120;23701534;23751871;23771786;23820787;23825611;23835106;23840863;23860325;23867619;23911093;23913730;23922112;23933215;23944291;23950990;23977173;24023349;24040077;24053193;24064335;24091943;24097068;24102053;24130335;24219661;24267414;24289790;24331679;24346748;24348519;24466303;24622803;24641884;24646999;24654937;24741957;24798613;24816145;25059067;8358434;8619474;8889549;9110174 79068 B3KU60;B4DHN4;F8WCB8;Q99770;Q9C0B1;X6R3I0 AB051539;ABBA01066498;ABBA01066499;ABBA01066500;ABBA01066501;AC007347;AC007496;AC007909;AK096554;AK295196;AMYH02032048;AMYH02032049;AMYH02032050;AMYH02032051;AMYH02032052;BC001284;BC003583;BC030798;BC132892;BC137091;CH471092;DA324897;NG_012969;NM_001080432;U79260 AAB50206;AAH03583;AAH30798;AAI32893;AAI37092;AAI48443;AAI53033;BAB21843;BAG53322;BAG58196;EAW82811;NP_001073901;Q9C0B1 Hs.528833 1654351;1660052;1662414;1667047;1687896;1708002;1728165;1738559;1738597;1766033;1780422;1852386;2120012;2127150;2147589;2160595;2167070;2186861;5022578 D16S2577E;D16S2729;D16S2748;D16S2971;D16S2986;D16S3246;D16S471E;D1S1423;G63505;RH48882;RH65144;SHGC-149420;SHGC-3070;SHGC-52812;SHGC-60773;SHGC-60860;SHGC-61171;SHGC-84665;STS-AA005225 ALKBH9;KIAA1752;MGC5149 AlkB homolog 9;OTTHUMP00000213475;alpha-ketoglutarate-dependent dioxygenase FTO;fat mass and obesity-associated protein APPROVED protein-coding HGNC:24678 610966;612938 REVIEWED 1315940 FUBP3 far upstream element (FUSE) binding protein 3 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN positive regulation of gene expression; positive regulation of transcription, DNA-templated; transcription, DNA-templated; FOUND IN cytoplasm; membrane; nucleus; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; methyl methanesulfonate 9 9 9 q34.11 103993491 104052272 + 133454954 133513739 + 130578857 130638352 + 6480464 12477932;15489334;16009940;16713569;17474147;18391950;19087307;19738201;19946888;20020773;20211142;20379614;20881960;21145461;21549307;21832049;21890473;21906983;22504420;22505724;22586326;22623428;22863883;22939629;23000965;23275563;23563607;24255178;24332808;24457600;24583282;24816145;8940189 8939 Q96I24 ABBA01012052;AK057958;AK295155;AL353695;AL359092;AL537190;AMYH02021765;AMYH02021766;BC001325;BC007874;BC015184;BC041566;BC137338;BC137340;BI461266;CH471090;NM_003934;U69127;XM_005272232;XM_006717312;XM_006717313;XM_006717314 AAC50893;AAH01325;AAH07874;AAI37339;AAI37341;BAG58170;EAW87937;EAW87938;NP_003925;Q96I24;XP_005272289;XP_006717375;XP_006717376;XP_006717377 Hs.673029;Hs.98751 1338087;1680280;1728697;1786942;5014051;5016478;5020946;5022200;5022588;5037552 D5S1597E;D8S2278;D8S2279;D9S1863;G63720;GDB:434012;L17971;L18426;RH94097;SHGC-142433 FBP3;FLJ25229 FUSE-binding protein 3;OTTHUMP00000022369;far upstream element-binding protein 3 protein-coding ENSG00000107164 HGNC:4005 603536 VALIDATED 735673 FUCA1 fucosidase, alpha-L- 1, tissue The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009] 1 1 1 p34 22500442 22523489 - 24171567 24194859 - 23845077 23868369 - 704404;1598969;1580863;2315931;2315947;2315946;2315949;2315945;2315932;2315943;2315944;6480464;7240710;8554872;8699517 10353622;1451959;16176171;2642067;3609421;3751446;3924473;7304074;8343614 10094192;11389735;11549468;11698403;12408193;12477932;1281988;14702039;15489334;16710414;16773698;17133604;17207965;18217416;18654987;19056867;19064572;19615732;19666478;19782187;2012122;20301334;20800603;21145461;2174090;21832049;22763966;22990118;23383108;23898208;23965968;24501781;24569461;2803312;2894306;2983333;3780313;3817676;4052017;4074382;6096099;7815431;7827138;7874128;8097260;8125298;8399358;8401503;8504303;8673729;9762612;9781852 2517 B5MDC5;P04066 AB074175;ABBA01059887;ABBA01059888;AK092914;AK095443;AK095455;AK225468;AK295535;AK301302;AK310143;AK314649;AL590728;AMYH02000512;AMYH02000513;BC017338;BX956202;CH471134;DC397571;M10355;M29877;M80815;NG_013346;NM_000147;X01390;XM_005245821 AAA35519;AAA52481;AAA52482;AAH17338;ADQ32636;BAC04002;BAE45738;BAG37210;BAH12098;BAH13453;CAA25646;EAW95098;NP_000138;P04066;XP_005245878 Hs.370858 1694918;1743959;1744657;1744661;2138775;2183915;5017508 D1S3248;FUCA1;G44348;GDB:378606;GDB:549178;GDB:549184;RH69114 FUCA OTTHUMP00000003009;alpha-L-fucosidase 1;alpha-L-fucosidase I;alpha-L-fucoside fucohydrolase 1;tissue alpha-L-fucosidase APPROVED protein-coding ENSG00000179163 HGNC:4006 01974 230000;612280 REVIEWED 2312697 FTX FTX transcript, XIST regulator (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH trichostatin A X X X q13.2 73531450 73796874 - 73247971 73513409 - 74028136 74293574 - 6480464;8554872 12045143;12477932;14702039;21118898;21254562 100302692 ABBA01059584;ABBA01059585;ABBA01059586;ABBA01059587;ABBA01059588;ABBA01059589;ABBA01059590;ABBA01059591;ABBA01059592;ABBA01059593;ABBA01059594;ABBA01059595;ABBA01059596;ABBA01059597;ABBA01059598;ABBA01059599;ABBA01059600;ABBA01059601;ABBA01059602;ABBA01059603;ABBA01059604;ABBA01059605;ABBA01059606;ABBA01059607;ABBA01059608;ABBA01059609;ABBA01059610;ABBA01059611;ABBA01059612;ABBA01059613;ABBA01059614;AC004386;AK057701;AK311345;AL139400;AL359740;AL627389;AMYH02039774;AMYH02039775;AMYH02039776;BC016373;HG512604;HG512605;HG512606;HG512607;HG512608;HG512610;HG512611;HG512612;KF459157;KF459158;KF459160;KF459161;KF459163;NR_028379;Z83843 Hs.349570 1338510;1652681;1655626;1662091;1663450;1668639;1671755;1673261;1680102;1701700;1701992;1702242;1702582;1852215;1856605;1857395;2121526;2134195;2139364;2148538;2151527;2155416;2175900;2183439;5037552;5093482;7184739;7186913 A009P32;AFM352tf5;D8S2279;DXS1103E;DXS1166;DXS1680;DXS7025E;DXS7030E;DXS7741;DXS8060;DXS8066;DXS8361;G31131;G31455;G32744;RH18206;RH36104;RH46387;RH64973;RH65903;RH68565;SHGC-32393;SHGC-33275;SHGC-33546;SHGC-34600;WIAF-2551 FLJ18387;LINC00182;MIR374AHG;NCRNA00182 APPROVED ncrna ENSG00000230590 HGNC:37190 VALIDATED 1316109 FTSJ3 FtsJ homolog 3 (E. coli) Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. [provided by RefSeq, Jul 2008] 17 17 17 q23.3 56284914 56293152 - 61896793 61905031 - 63819433 63827671 - 1580863;6480464 12429849;12477932;12938929;14702039;15489334;15635413;16189514;16565220;16964243;17081983;17353931;19447967;19471022;21139048;21145461;21182205;21890473;21903422;22113938;22178446;22195017;22505724;22586326;22939629;22952844;23000965;23602568;24457600;24639526;24654937;24778252;24816145;25027693 117246 J3KRY4;J3KS36;J3KS74;J3QKT6;J3QR05;J3QRS5;J3QSE2;Q8IY81 ABBA01035319;AC015651;AF147378;AF327355;AK000069;AK095861;AK296715;AK307398;AK315010;AL834482;AMYH02033780;BC000131;BC036710;BM914774;CH471109;NM_017647 AAH00131;AAH36710;AAL56015;ABM83247;ABM86449;BAA90924;BAG37502;BAG59305;CAD39141;EAW94273;EAW94274;EAW94275;NP_060117;Q8IY81 Hs.463785 1683645;1686304;1736658;1756001;2163682;2189395 A007J39;D17S1492E;MARC_4113-4114:991938380:3;RH75315;RH80617;SHGC-142815 EPCS3;FLJ20062;SPB1 2'-O-ribose RNA methyltransferase SPB1 homolog;SPB1 RNA methyltransferase homolog;pre-rRNA processing protein FTSJ3;protein ftsJ homolog 3;putative rRNA methyltransferase 3;rRNA (uridine-2'-O-)-methyltransferase 3 APPROVED protein-coding ENSG00000108592 HGNC:17136 17024 REVIEWED 5688635 FTO-IT1 FTO intronic transcript 1 (non-protein coding) 16 16 16 q12.2 38587774 38588607 + 54073305 54074285 + 54039393 54040373 + 8889548 100505692 ABBA01066499;AC007347;AMYH02032050;NR_103838 Hs.664629 ncrna HGNC:43758 VALIDATED 1351437 FUNDC1 FUN14 domain containing 1 This gene encodes a protein with a FUN14 superfamily domain. The function of the encoded protein is not known. [provided by RefSeq, Sep 2011] X X X p11.3 48519971 48539287 - 44382885 44402221 - 44523639 44542975 - 737633;6480464 12477932 11329013;15489334;15772651;16341674;18957941;21139048;22267086;23000965;24722188 139341 Q8IVP5 ABBA01046353;ABBA01046354;ABBA01046355;ABBA01046356;AL022163;AL136137;AMYH02039238;AMYH02039239;BC035015;BC042813;BG213042;BM837991;CH471141;NG_021288;NM_173794 AAH35015;AAH42813;ADZ15998;EAW59371;NP_776155;Q8IVP5 Hs.7549 1701922;1772822;2161870 DXS7952;DXS8207;WI-16570 MGC51029 FUN14 domain-containing protein 1;OTTHUMP00000023173 APPROVED protein-coding ENSG00000069509 HGNC:28746 06658 300871 REVIEWED 1350454 FUCA1P1 fucosidase, alpha-L- 1, tissue pseudogene 1 2 2 2 q31-q32 171271553 171273037 - 177669183 177670667 - 176804455 176805939 - 1977129;8504303 2518 ABBA01062225;AC092162;AMYH02005304;M80816;NG_001122 FUCA1P APPROVED pseudo HGNC:4007 INFERRED 1351400 FUNDC2 FUN14 domain containing 2 FOUND IN mitochondrion; nucleus; INTERACTS WITH amiodarone; atrazine; copper(2+) sulfate X X X q28 154413800 154443906 + 154255064 154285191 + 155026789 155056916 + 737633;6480464 12477932 11076863;11256614;12665903;14702039;15146197;15489336;16169070;16381901;21139048;21890473;21900206;21906983;21963094;22645275;23000965;24250222;24816145;25015289;8889548 65991 H7C0K8;Q9BWH2 ABBA01029107;ABBA01029108;ABBA01029109;ABBA01029110;ABBA01029111;AF267862;AF320778;AI886036;AJ272054;AK091092;AK313143;AMYH02040864;AMYH02040865;AY032594;BC000255;BC072685;BC108657;BI463291;BM713884;BU738737;BX470111;CH471172;CN306694;NM_023934 AAG44731;AAH00255;AAH72685;AAI08658;AAK51136;AAN51931;BAG35962;CAC81242;CAL38105;CAL38413;EAW72643;EAW72644;NP_076423;Q9BWH2 Hs.356050 1805322;1810026;1812164;1813314;1813874;1816698;1824718;1825044;1833192;1834824;1838870;1840002;1840528;1842196;1842392;1844224;1846152;2103122;2103124;2103126;2103128;2103130;2103132;2103134;2103136;2103138;2103140;2103142;2103144;2103146;2103148;2103150;2179484 ECD03608;ECD06005;ECD07087;ECD07678;ECD07963;ECD09392;ECD13457;ECD13623;ECD17738;ECD18560;ECD20614;ECD21185;ECD21451;ECD22301;ECD22399;ECD23325;ECD24296;STS-AA002210;stSG604407;stSG604408;stSG604409;stSG604410;stSG604411;stSG604412;stSG604413;stSG604414;stSG604415;stSG604416;stSG604417;stSG604418;stSG604419;stSG604420;stSG604421 DC44;FLJ33773;HCBP6;HCC-3;HCC3;MGC131676;MGC2495;PD03104 FUN14 domain-containing protein 2;OTTHUMP00000015441;cervical cancer oncogene 3;cervical cancer proto-oncogene 3 protein;hepatitis C virus core-binding protein 6 protein-coding HGNC:24925 06586 VALIDATED 1345273 FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli) This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X p11.23 53320980 53331186 - 48334454 48344752 + 48476021 48486364 + 1580863;6480464;7240710;8699517;8554872 10398246;10648622;12477932;12801724;14702039;15162322;15342698;15489334;15772651;1605216;16344560;17207965;17333282;18081026;18401546;19012053;19615732;20613765;20662849;21139048;21145461;21832049;21890473;23000965;24816145;8288232 24140 B3KN91;B7Z4K4;Q9UET6 ABBA01046003;ABBA01046004;ABBA01046005;AF063015;AF196972;AJ005892;AK024023;AK297486;AK315138;AMYH02039304;BC021047;BC023584;CH471224;DB049661;NG_008879;NM_001282157;NM_012280;NM_177439;XM_005272595;XR_246715;XR_246716;XR_430505 AAC33734;AAH23584;ADQ32209;BAG37587;BAG51253;BAH12590;CAA06749;EAW50782;EAW50783;EAW50784;NP_001269086;NP_036412;NP_803188;Q9UET6;XP_005272652 Hs.23170 1663766;1667175;1850115;2109327;2112858 DXS9853E;FTSJ1__6761;G30997;WI-13354;WI-13805 CDLIV;JM23;MRX44;MRX9;SPB1;TRM7;TRMT7 2'-O-ribose RNA methyltransferase TRM7 homolog;FtsJ homolog 1;OTTHUMP00000025795;OTTHUMP00000025796;cell division protein;putative ribosomal RNA methyltransferase 1;putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase;rRNA (uridine-2'-O-)-methyltransferase;tRNA methyltransferase 7 homolog APPROVED protein-coding ENSG00000068438 HGNC:13254 06568 300499;309549 REVIEWED 1604200 FUNDC2P1 FUN14 domain containing 2 pseudogene 1 5 5 5 q13.2 68699726 68700832 + 72804434 72805540 + 73508609 73509715 + 220793 ABBA01061918;AC099522;AMYH02011562;NG_005087 2179484 STS-AA002210 FUNDC2P APPROVED pseudo HGNC:17253 INFERRED 1344103 FUCA2 fucosidase, alpha-L- 2, plasma This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010] 6 6 6 q24 144556372 144573429 - 143815949 143833020 - 143494812 143511883 - 1580863;6480464;8699517 11389735;12477932;12975309;14574404;15342556;15489334;16303743;17207965;18521898;1951444;19666478;20800603;21145461;21890473;22082156;22268729;6590153;8344670 2519 Q7Z6V1;Q7Z6V2;Q9BTY2 ABBA01025747;AK075458;AK296485;AK315475;AL031320;AMYH02014634;AY358551;BC003060;BC051268;BG719318;BP214015;BX537633;CA412923;CH471051;NG_027676;NM_032020 AAH03060;AAH51268;AAQ88915;ADQ32368;BAC11633;BAG59123;EAW47865;NP_114409;Q9BTY2 Hs.17680 1656291;1686666;2109329;2174725 A006N25;FUCA2_8358;RH98954;STS-T95834 MGC1314;RP1-20N2.5;dJ20N2.5 OTTHUMP00000017331;alpha-L-fucosidase 2;alpha-L-fucoside fucohydrolase 2;plasma alpha-L-fucosidase APPROVED protein-coding ENSG00000001036 HGNC:4008 00649 136820 REVIEWED 1314273 FTSJ2 FtsJ RNA methyltransferase homolog 2 (E. coli) The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. [provided by RefSeq, Jul 2008] 7 7 7 p22 2243616 2251525 - 2273830 2281840 - 2234291 2242198 - 1359074;1580863;6480464 11827451 10049595;12477932;15489334;20877624;20972266;21890473;22688191;22990118;23000965;23453885;23974872 29960 E7ETL2;E9PGN6;Q9UI43;V9HWJ9 ABBA01039362;AC004971;AC005282;AF093415;AK024635;AK302060;AMYH02015063;AMYH02015064;BC017106;BC017181;BC114514;BC114564;CH236953;CH471144;CR749618;EU794658;NM_013393 AAF22488;AAI14515;AAI14565;ACJ13712;BAG63450;CAH18412;EAW87223;EAW87224;NP_037525;Q9UI43 Hs.279877 1659116 SHGC-32279 DKFZp686J14194;FJH1;HEL97;MRM2 FtsJ homolog 2;MRM2 RNA methyltransferase homolog;OTTHUMP00000025484;cell division protein FtsJ;epididymis luminal protein 97;putative ribosomal RNA methyltransferase 2;rRNA (uridine-2'-O-)-methyltransferase APPROVED protein-coding ENSG00000122687 HGNC:16352 06067 606906 REVIEWED 1603147 FUNDC2P2 FUN14 domain containing 2 pseudogene 2 2 2 2 p11.2 84344703 84346222 + 84517806 84519324 + 84290682 84292200 + 12477932;21906983 388965 ABBA01075718;AC097458;AMYH02004157;BC067852;CH471053;NR_003663 EAW99560 Hs.664098;Hs.744643 MGC39809 APPROVED pseudo HGNC:17247 18390 PROVISIONAL 2802019 FUNDC2P4 FUN14 domain containing 2 pseudogene 4 22 22 22 q13.1 23353584 23354144 + 39551541 39552101 + 39155536 39156096 + 100127979 ABBA01055552;AL031846;AMYH02038374;NG_022878 pseudo HGNC:37971 INFERRED 1349988 FUSE polykaryocytosis promoter 2522 HGNC:4011 174750 737372 FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46117360 46124739 - 49251268 49258647 - 48748011 48755390 - 1580863;6480464;6907045;8699517;8554872 10330445;11698403;12366770;12477932;12652076;12697902;15146197;15476160;15487706;15489334;15847661;16331565;16490787;17459061;1763885;17922418;18023290;18155296;18205178;18374127;18686606;19137814;19572973;20506485;21060863;2118655;21839020;21926972;21983725;22053055;22082156;22161108;23063462;23372041;23533340;23824729;24527852;24593306;7656588;7768954;7912436;9054453;9122901;9226185;9299444;9745152;9760178 2523 P19526;Q6IZA2 AB004859;AB004860;AB004861;AB004862;AB004863;AB006136;ABBA01032968;AC009002;AF455028;AJ276886;AMYH02036310;AY611628;AY780784;AY923051;BC074732;CH471177;CN359119;D87935;D87936;D87937;D87938;D87939;D87940;D87941;DQ092446;DQ321370;FJ665616;FM162557;FM180557;KF906450;M35531;NG_007510;NM_000148;XM_006723127;Z69587 AAA52639;AAH74732;AAL57863;AAT42242;AAV51818;AAW82437;AAY96648;ABC59307;ACN41952;AHJ09661;BAA20556;BAA20557;BAA20558;BAA20559;BAA20560;BAA28952;CAA93435;CAC81751;CAQ56300;CAQ81977;EAW52399;NP_000139;P19526;XP_006723190 Hs.69747 1795870;2160404;2177866;2185178;2220250;5022578;5022651;5024039;5037552;5111349;5127927;7186908 D11S2921;D16S325;D19S596;D1S1423;D8S2279;FUT1;FUT1_318;G15901;RH78937;SHGC-152310;SHGC-35310;STS-M35531 H;HH;HSC 2-alpha-L-fucosyltransferase;GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1;alpha (1,2) fucosyltransferase;alpha(1,2) fucosyltransferase 1;alpha(1,2)FT 1;blood group H alpha 2-fucosyltransferase;fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase);galactoside 2-alpha-L-fucosyltransferase 1 APPROVED protein-coding ENSG00000174951 HGNC:4012 07186 211100 REVIEWED 735764 FUT11 fucosyltransferase 11 (alpha (1,3) fucosyltransferase) ENCODES a protein that exhibits alpha-(1->3)-fucosyltransferase activity (inferred); INVOLVED IN fucosylation (inferred); protein glycosylation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; calcitriol; cobalt dichloride 10 10 10 q22.2 68815227 68819145 + 75531830 75535977 + 73772175 73779095 + 6480464 11698403;12477932;14702039;19088067;21963094;24250222;24318988 170384 Q495W5 ABBA01020309;AC022400;AK095482;AK314944;AMYH02023339;BC036037;BC100994;BC100995;BC100996;BC100997;CH471083;NM_001284194;NM_173540;XM_005269588;XM_006717656;XM_006717657 AAH36037;AAI00995;AAI00996;AAI00997;AAI00998;ABM85304;ABW03711;BAG37450;EAW54518;EAW54519;NP_001271123;NP_775811;Q495W5;XP_005269645;XP_006717719;XP_006717720 Hs.588854 1661790;1686532;1796732;1851664;2141782 D10S2187;RH25307;RH44071;SEC24C_392;WI-18926 MGC119338;MGC119339;MGC33202 OTTHUMP00000019832;alpha-(1,3)-fucosyltransferase 11;alpha3-fucosyltransferase 11;fuc-TXI;fucT-XI;fucosyltransferase XI;galactoside 3-L-fucosyltransferase 11 protein-coding ENSG00000196968 HGNC:19233 13555 VALIDATED 1318882 FUS FUS RNA binding protein This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009] 16 16 16 p11.2 29091832 29106593 - 31191431 31206192 + 31180110 31194871 + 1580863;5509913;5509906;5509900;5509901;5509902;5509905;6480464;7240710;8554872;8699517 20332486;21658743;21677541;21847626;21908872;22055719 10442642;10567410;10779324;10862698;11278855;11438536;11850402;12168660;12169268;12183049;12226669;12477932;12581738;12830400;12840784;12858291;12915480;15286712;15299008;15489334;15635413;15688424;15782174;15975576;15988032;16055720;16169070;16215946;16230076;16344560;16365397;16651630;16713569;17196963;17332742;17353931;17468515;17721195;17765891;18029348;18167354;18509338;18620564;18632687;18648544;18850010;18954305;19037998;19135240;19251627;19251628;19303844;19369647;19380743;19450904;19669651;19674978;19738201;19741215;19741216;19841068;19861302;19922450;19946338;19965854;19967541;20017906;20018407;20061612;20085233;20124201;20138404;20142531;20195357;20224596;20232451;20236174;20301623;20360068;20385912;20472325;20499220;20517935;20544928;20577002;20606625;20621307;20624952;20660363;20668259;20668261;20699327;20720006;20863376;20864052;20886222;21128870;21139048;21145461;21158017;21160488;21169411;21182205;21187067;21261515;21280085;21319273;21327980;21344536;21399449;21403029;21408206;21452073;21487023;21536545;21541367;21541368;21603978;21604077;21693764;21725888;21732477;21752791;21792670;21856723;21881207;21883376;21890473;21906983;21909421;21915790;21943958;21949354;21956701;21956718;21965298;21988832;22053931;22057404;22118902;22174317;22178446;22240165;22292843;22340366;22363618;22388756;22412018;22443542;22459602;22460799;22493728;22563080;22586326;22623428;22674379;22710833;22751105;22755220;22778397;22797925;22833456;22842875;22863194;22863883;22878663;22934129;22934812;22939629;22941224;22961620;22968170;22980027;22982887;22995304;23000965;23023293;23041957;23046583;23046859;23048034;23049996;23056579;23114103;23151878;23152885;23172909;23196439;23200923;23217123;23232809;23246001;23249733;23257289;23389473;23455922;23455924;23474818;23521792;23523636;23545117;23559573;23577159;23582660;23587065;23601511;23620769;23625794;23660545;23681068;2372777;23731953;23771027;23825177;23833192;23836491;23847048;23862649;23867462;24036913;24080306;24085347;24090136;24244333;24251952;24256263;24262168;24268778;24280224;24285420;24325798;24332808;24457600;24509083;24550385;24583282;24816145;7503811;7987849;8187069;8510758;8921363;9264461;9440806;9478924;9660765;9774382;9795213 2521 H3BNZ4;H3BPE7;P35637;Q13344;Q6IBQ5 AB208902;ABBA01042085;AC009088;AF071213;AI333366;AK098774;AK130774;AK290936;AK299129;AK301110;AMYH02031843;AW408771;AW514140;BC000402;BC002459;BC026062;BC051293;BT007131;BX423519;CH471192;CR456747;DA541747;DC361263;GU933437;NG_012889;NM_001170634;NM_001170937;NM_004960;NR_028388;R07006;S62140;U00942;U36561;X71428;XM_005255233 AAA79948;AAB27102;AAC35284;AAC35285;AAH00402;AAH02459;AAH26062;AAP35795;ABM82631;ABM85808;BAD92139;BAF83625;BAG61182;BAG62709;CAA50559;CAG33028;EAW52150;EAW52151;EAW52152;NP_001164105;NP_001164408;NP_004951;P35637;XP_005255290 Hs.46894 1337425;1338621;1339622;1680108;1680186;1682257;1685333;1687357;1689179;1739639;2111396;2127609;5015861;7185938 D10S16;D16S2534E;D16S3002E;D16S3137;D16S3354;D16S415;D16S419;RH65013;RH69682;RH79829;RH80052;RH80219;RH91447 ALS6;CHOP;ETM4;FUS-CHOP;FUS1;HNRNPP2;POMP75;TLS;TLS/CHOP;hnRNP-P2 75 kDa DNA-pairing protein;OTTHUMP00000163228;RNA-binding protein FUS;fus-like protein;fused in sarcoma;fusion gene in myxoid liposarcoma;heterogeneous nuclear ribonucleoprotein P2;oncogene FUS;oncogene TLS;translocated in liposarcoma protein APPROVED protein-coding ENSG00000089280 HGNC:4010 00660 137070;608030;614782 REVIEWED 1315934 FUK fucokinase The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 55014116 55039795 - 70488498 70514177 + 70454584 70480274 + 737633;1580863;6480464;6907045 12477932 12056818;12975309;14702039;15489334;21906983;21963094;23251661 197258 B4DEU5;I3L106;I3L171;I3L1X0;I3L3J1;J3KSP6;J3KTP6;Q8N0W3 ABBA01010661;AC012184;AC106804;AJ441184;AK056456;AK074168;AK092025;AK096727;AK123470;AK128387;AK293794;AK315590;AMYH02032305;AY358187;AY829643;BC013735;BC032542;CH471241;NM_145059;XM_006721161;XM_006721162;XM_006721163;XM_006721164 AAH13735;AAH32542;AAQ88554;AAV67949;ABM84278;ABM87670;BAB71190;BAB84994;BAC04852;BAC87413;BAG37962;BAG57206;CAD29647;EAW51814;EAW51815;EAW51816;EAW51817;NP_659496;Q8N0W3;XP_006721224;XP_006721225;XP_006721226;XP_006721227 Hs.7907 1736588;1778382;2136450 D16S2583E;D16S2587E;RH44544 1110046B12Rik;FLJ39408 L-fucose kinase;OTTHUMP00000082728;OTTHUMP00000082729 APPROVED protein-coding ENSG00000157353 HGNC:29500 16365 608675 REVIEWED 1354084 FUT10 fucosyltransferase 10 (alpha (1,3) fucosyltransferase) ENCODES a protein that exhibits alpha-(1->3)-fucosyltransferase activity (inferred); INVOLVED IN fucosylation (inferred); protein glycosylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi apparatus (inferred); Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; melphalan; methyl methanesulfonate 8 8 8 p12 32177762 32280374 - 33228057 33330664 - 33370539 33473146 - 1580863;6480464;8554872 11698403;12370785;12477932;14702039;19088067;20379614;21890473 84750 B4E056;Q6P4F1 ABBA01023611;ABBA01023612;ABBA01023613;ABBA01023614;ABBA01023615;AC067838;AC091144;AJ431184;AJ512465;AJ535838;AJ535839;AJ582015;AK056199;AK098505;AK292993;AK297132;AK303231;AMYH02017763;AMYH02017764;AMYH02017765;AMYH02017766;BC004884;BC063462;CH471080;NM_032664;XM_005273665;XM_005273666 AAH04884;AAH63462;BAF85682;BAG59636;BAG64318;CAD24023;CAD54669;CAD59771;CAD59772;CAE46499;EAW63401;EAW63402;EAW63403;EAW63404;NP_116053;Q6P4F1;XP_005273722;XP_005273723 Hs.458713 1668668;1668670;1758099;2109331;5106047;5118278 AB046050;D13S985;FUT10__6763;HSCZXF072;SHGC-147403;WI-18671 MGC11141;fuc-TX;fucT-X OTTHUMP00000225460;OTTHUMP00000225461;OTTHUMP00000225462;alpha 1,3-fucosyl transferase;alpha-(1,3)-fucosyltransferase 10;fucosyltransferase X;galactoside 3-L-fucosyltransferase 10 protein-coding ENSG00000172728 HGNC:19234 VALIDATED 3436551 FUNDC2P3 FUN14 domain containing 2 pseudogene 3 6 6 6 q24.3 147232814 147233596 + 146492426 146493208 + 146171290 146172072 + 14702039 644625 ABBA01025723;AL592423;AMYH02014653;NG_022375 FLJ37060 pseudo HGNC:37970 INFERRED 1342617 FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) The product of this gene transfers fucose to N-acetyllactosamine polysaccharides to generate fucosylated carbohydrate structures. It catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). [provided by RefSeq, Jan 2009] 11 11 11 q21 91564827 91570875 + 94277017 94283064 + 94543851 94549898 + 1580863;6480464;6907045;8554872 11006292;11698403;12477932;12738675;15182935;15579466;16712791;16842926;16884686;1702034;1716630;1718983;17409497;17556010;17662271;18023290;18085638;19185848;19546439;19572148;19725119;20181261;20458727;20506505;20605574;20965272;21337384;21457163;21521691;21635204;21857669;21931765;22084431;22145955;22287018;22411914;22566498;22691873;23681114;23799130;23959823;24086629;24232099;3305706;7508745;7782074;8116567;8287679;8889548;9186069;9756916 2526 P22083 AA029661;AA029722;ABBA01040026;AF305083;AMYH02025373;AP000943;BC041922;BC136373;BC136374;BE242611;BQ232971;CA315021;CB123990;CB140063;CH471065;JC231866;M58596;M58597;M65030;NM_002033;R48692;S65161 AAA63172;AAA63173;AAA92977;AAB20349;AAI36374;AAI36375;CDM22275;EAW66938;NP_002024;P22083 Hs.390420;Hs.572064;Hs.623098 1673374;1698634;1771504;2115754;2162929;5015961;5022588;5037552 D11S4334;D15S1477;D5S1597E;D8S2279;FUT4;RH102874;RH17863;STS-M58596 CD15;ELFT;FCT3A;FUC-TIV;LeX;SSEA-1;fucT-IV ELAM ligand fucosyltransferase;ELAM-1 ligand fucosyltransferase;FUTIV;Lewis X;OTTHUMP00000236888;alpha-(1,3)-fucosyltransferase;alpha-(1,3)-fucosyltransferase 4;fucosyltransferase IV;galactoside 3-L-fucosyltransferase;stage-specific embryonic antigen 1 APPROVED protein-coding ENSG00000196371 HGNC:4015 00083 104230 REVIEWED 1348340 FUT5 fucosyltransferase 5 (alpha (1,3) fucosyltransferase) ENCODES a protein that exhibits 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (inferred); alpha-(1->3)-fucosyltransferase activity (inferred); fucosyltransferase activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); fucosylation (inferred); protein glycosylation (inferred); PARTICIPATES IN lacto-series glycosphingolipid metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); Golgi cisterna membrane (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; diethylstilbestrol 19 19 19 p13.3 5804795 5809509 - 5865837 5870551 - 5865826 5870540 - 1580863;6480464;6907045;8554872 10622713;11698403;12477932;1339443;14601054;17148576;1740457;19349624;20677162;21978830;22619806;7650030;7782074 2527 K7ENC0;Q11128 ABBA01055985;ABBA01055986;AC024592;AMYH02035341;BC140905;CH471139;M81485;NM_002034;U27329;U27330 AAA98117;AAC50188;AAC50189;AAI40906;EAW69134;NP_002025;Q11128 Hs.631843 2181664 RH79134 FUC-TV;fucT-V alpha (1,3) fucosyltransferase;alpha-(1,3)-fucosyltransferase;alpha-(1,3)-fucosyltransferase 5;fucosyltransferase V;galactoside 3-L-fucosyltransferase protein-coding ENSG00000130383 HGNC:4016 00650 136835 VALIDATED 1351938 FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5781861 5790443 - 5842899 5851485 - 5842888 5851474 - 1580863;6480464;6907045;8554872 10089211;10394050;10816554;11535550;11668626;11698403;11819805;12164325;12424536;12477932;12493760;12668675;12673421;12730721;14687237;14977360;15331092;15338364;15489334;15639865;15639866;15832169;16008680;16097066;16168124;16199102;16239964;16344560;16427187;16800951;17054072;17383304;1740457;18205178;18803289;18953356;18974842;18977761;19137814;19169360;19175549;19199708;19349624;19572973;19715603;1977660;19913121;20003467;20179215;20197723;20514537;20605574;20628086;20833389;21203500;21542140;21978830;23922852;23958938;7650030;7656588;7916594;7961897;8063716;8219240;8240322;8240337;8801770;8889548;8943285;9268337;9703429 2525 A8K737;K7ENT3;K7EQ20;K7ES24;P21217 AB043998;ABBA01055986;AC024592;AF131913;AK291852;AK313575;AMYH02035339;AMYH02035340;AY849570;AY870341;BC074836;BC074837;BC108675;BM671165;CH471139;D89324;D89325;DA876997;DA930897;DB200655;FM164935;FM164936;FM180567;NG_007482;NM_000149;NM_001097639;NM_001097640;NM_001097641;S52874;U27326;U27327;U27328;X53578 AAC50185;AAC50186;AAC50187;AAD33514;AAH74836;AAH74837;AAI08676;AAW34365;BAA13941;BAA13942;BAA96390;BAF84541;BAG36347;CAA37641;CAQ68512;CAQ68513;CAQ81987;EAW69135;NP_000140;NP_001091108;NP_001091109;NP_001091110;P21217 Hs.169238 1744495;1776312;2159116 GDB:461091;RH79133;SHGC-35418 CD174;FT3B;FucT-III;LE;Les;MGC131739 Lewis FT;alpha-(1,3/1,4)-fucosyltransferase;blood group Lewis alpha-4-fucosyltransferase;fucosyltransferase;fucosyltransferase III;galactoside 3(4)-L-fucosyltransferase APPROVED protein-coding ENSG00000171124 HGNC:4014 00196 111100 REVIEWED 6892853 FUT8-AS1 FUT8 antisense RNA 1 INTERACTS WITH valproic acid 14 14 14 q23.3 45932420 45934442 - 65877310 65879335 - 65410592 65412617 - 6480464 12477932;14702039 645431 ABBA01018393;AK094893;AL359236;AMYH02029377;BC028147;BC045750;BX098734;BX161387;CH471061;NR_024334 BAC04452;CAD61877;EAW80918 Hs.713717 1783104;2143774 RH69309;SHGC-155335 APPROVED ncrna HGNC:44294 VALIDATED 1322512 FUOM fucose mutarotase ENCODES a protein that exhibits fucose binding (ortholog); racemase and epimerase activity, acting on carbohydrates and derivatives (ortholog); INVOLVED IN fucose metabolic process (ortholog); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 10 10 10 q26.3 128345999 128348870 + 135168658 135171529 - 133355154 133358025 - 6480464 12477932;15146197;16385451;17602138;19524593;25036637 282969 A2VDF0;X6R6T9;X6RK00 ABBA01006213;AI333356;AK129527;AK310070;AL360181;AMYH02024092;BC129818;BC129819;BM009909;BU849497;BX119427;CH471211;CN368132;HY163253;NM_001098483;NM_001301827;NM_001301828;NM_198472 A2VDF0;AAI29819;AAI29820;BAC85178;EAW61337;EAW61338;NP_001091953;NP_001288756;NP_001288757;NP_940874 Hs.155823 1779066 RH70279 C10orf125;FLJ26016;FUCU;FucM;MGC149258 OTTHUMP00000020801;OTTHUMP00000020802;protein fucU homolog APPROVED protein-coding ENSG00000148803 HGNC:24733 12564 VALIDATED 1350852 FUT6 fucosyltransferase 6 (alpha (1,3) fucosyltransferase) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5769631 5778704 - 5830637 5839764 - 5830626 5839731 - 1580863;6480464;6907045;8554872 10536043;10900002;11530205;11698403;12477932;12670495;1339443;14514715;14702039;1520296;16344560;17054948;18274891;19199708;19349624;19913121;20179215;20628086;20965272;21203500;22155250;22367966;23300138;24232099;7650030;7656588;7782074;8125298;8175676 2528 E9PI36;E9PJ18;E9PJB4;E9PP56;E9PS22;P51993;Q6P7E6 ABBA01055986;AC024592;AF131211;AK098073;AK225795;AK313130;AMYH02035339;BC061700;CH471139;DA426469;DA622182;DA628976;L01698;M98825;NG_007505;NM_000150;NM_001040701;U27331;U27332;U27333;U27334;U27335;U27336;U27337;XM_005259526;XM_005259527 AAA99222;AAB03078;AAC50190;AAC50191;AAC50192;AAC50193;AAC50194;AAC50195;AAC50196;AAD33509;AAH61700;BAG35950;EAW69136;EAW69137;EAW69138;EAW69139;NP_000141;NP_001035791;P51993;XP_005259583;XP_005259584 Hs.631846;Hs.705615 1678183;1769487;1795872;5015619;5037552;5118444 D11S3114;D11S3316;D8S2279;FUT6_663;RH80293;SGC35572 FCT3A;FLJ40754;FT1A;Fuc-TVI;FucT-VI OTTHUMP00000235735;OTTHUMP00000235736;OTTHUMP00000235737;OTTHUMP00000235739;OTTHUMP00000235740;OTTHUMP00000235741;alpha-(1,3)-fucosyltransferase;alpha-(1,3)-fucosyltransferase 6;fucosyltransferase VI;galactoside 3-L-fucosyltransferase APPROVED protein-coding ENSG00000156413 HGNC:4017 00651 136836;613852 REVIEWED 1323167 FURIN furin (paired basic amino acid cleaving enzyme) This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. The product of this gene is one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is also thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140 and may play a role in tumor progression. This gene is located in close proximity to family member proprotein convertase subtilisin/kexin type 6 and upstream of the FES oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 15 15 15 q26.1 67820515 67835658 + 91411885 91426687 + 90868655 90883457 + 1582622;1580863;1582625;2315952;6480464;6484113;8554872 15756593;16541018;19594364 10037747;10050053;10225274;10373500;10409610;10452538;10526337;10567353;10593987;10887202;10888676;10900462;11071887;11237874;11294867;11323410;11331585;11380615;11416205;11422372;11571266;11723118;11804956;11861638;11861826;11921231;12006600;12058031;12058067;12071862;12220680;12354117;12411321;12460941;12477932;12482870;12547702;12584323;12586364;12644459;12670890;12736257;12787574;1360148;14596804;14644155;14739277;14741044;14744861;15078902;15082773;15135058;15240540;15247425;15371436;15489334;15564468;15584904;15606899;15611046;15637056;15659365;1571548;15899807;15911696;1629222;16407210;16537537;16600625;16627761;16648485;16912035;16942750;17010968;1713771;17283058;17301129;17360815;1741956;17477394;17525470;17641413;17905608;17905609;17909005;17938254;17948127;18037384;18064302;18174282;18245819;18323532;18343183;18353966;18467449;18544638;18546152;18665212;18826955;19056739;19152512;19193799;19199708;19322201;19477160;19492430;19541935;19913121;19946888;19998449;20055586;20062797;20101215;20605791;20608975;20628086;20634490;20635860;20707915;20811902;20945401;2112085;21147780;21296375;21406565;21503879;21550985;21805236;21805237;21880759;21889147;21890473;21909115;21988832;22038627;22247010;22479394;22505724;2251280;22577343;22679642;22808247;22995191;23000965;23065687;23135270;23302673;23390091;23558288;23568742;23598405;23653353;23661674;23686857;23744066;23775089;23835774;23840860;23861967;23936445;2408021;24257604;24454770;2674906;3023061;7508380;7639757;7690548;7721880;7737999;7774724;7781597;7782070;8020465;8163529;8174106;8189547;8262946;8546712;8615794;8670066;8846780;8940009;8995623;9094426;9166946;9242664;9412467;9442015;9521771;9599222;9642263;9653148;9695949;9827567;9927419 5045 H0YKB2;H0YLH7;H0YNB5;P09958 A06939;ABBA01053069;ABBA01053070;AC124248;AI051906;AL555508;AMYH02031053;AMYH02031054;BC008295;BC012181;BM043834;BP282138;BP283962;CH471101;NM_001289823;NM_001289824;NM_002569;S65442;S72615;X04329;X15723;X17094;XM_005254931;XM_005254932 AAB28140;AAH12181;CAA00605;CAA27860;CAA33745;CAA34948;EAX02111;EAX02112;NP_001276752;NP_001276753;NP_002560;P09958;XP_005254988;XP_005254989 Hs.513153 1712318;2116475;2161089;2217342;5094843 FURIN;FURIN_659;G06349;G54068;RH1636 FUR;PACE;PCSK3;SPC1 FES upstream region;OTTHUMP00000194747;dibasic processing enzyme;dibasic-processing enzyme;furin, membrane associated receptor protein;paired basic amino acid residue-cleaving enzyme;proprotein convertase subtilisin/kexin type 3 APPROVED protein-coding ENSG00000140564 HGNC:8568 00653 136950 REVIEWED 735387 FUT2 fucosyltransferase 2 (secretor status included) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46065327 46075291 + 49199228 49209191 + 48695971 48705934 + 6480464;6907045;7240710;8554872 11323419;11535550;11606829;11698403;11777923;11806852;11916003;12164325;12477932;12645255;12673421;12692541;15250822;15338364;15476160;15487706;15757249;15809881;16008680;16168124;16306606;16344560;16514298;17054072;17537929;1763885;17655580;17760744;17805536;17922418;18067503;18422843;18776911;18803289;18997004;19169360;19199708;19303062;19440360;19487333;19572973;19625176;19692168;19744961;19757028;20000042;20172014;20197723;20506485;20514537;20533259;20565774;20570966;20686565;20800603;20852008;20880207;20971884;21040203;21056528;21060863;21102463;21256510;21625510;21725903;21886157;21926972;22001757;22025362;22025780;22053055;22068912;22188519;22237057;22266267;22367966;22471454;22521342;22664149;22672431;23002346;23065099;23075394;23128233;23201895;23251661;23300138;23372041;23402911;23824729;23958938;24097068;24122375;24277741;24527852;24612312;7656588;7876234;7876235;8621666;8755920;9219535;9299444;9745152;9760207 2524 A8K2L2;E7EW73;Q10981 AB000931;AB032485;AB032486;AB034980;ABBA01032972;ABBA01032973;AC008888;AK290277;AMYH02036309;AMYH02036310;AY751739;AY817671;AY937240;BC001899;BC121066;BE266792;BT006657;CH471177;D87942;D87945;D89326;D89327;DA918525;DQ321371;FM180560;FM180562;FM180563;FM180564;NG_007511;NM_000511;NM_001097638;U17894 AAC24453;AAP35303;AAU47383;AAV65715;AAX14047;ABC59308;BAA13943;BAA13944;BAA21684;BAF82966;CAQ81980;CAQ81982;CAQ81983;CAQ81984;EAW52379;NP_000502;NP_001091107;Q10981 Hs.579928 1677706;5015961;5022450;5022578;5022588 D10S275;D15S1477;D1S1423;D5S1597E;RH76300 B12QTL1;SE;SEC2;Se2;sej GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2;OTTHUMP00000226681;OTTHUMP00000226682;alpha (1,2) fucosyltransferase;alpha(1,2)FT 2;alpha(1,2)FT2;fucosyltransferase;galactoside 2-alpha-L-fucosyltransferase 2;secretor blood group alpha-2-fucosyltransferase;secretor factor APPROVED protein-coding ENSG00000176920 HGNC:4013 01629 182100;612542 REVIEWED 1353646 FUT7 fucosyltransferase 7 (alpha (1,3) fucosyltransferase) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 1417 4083 + 139924626 139927292 - 137030174 137032840 - 1580863;6480464;6907045 11404359;11425803;11698403;11825883;12477932;12506041;15164053;15262995;15464988;15489334;15579466;15926890;16482509;17229154;17436081;17760744;18402946;18452157;19851296;19946888;20198315;20428816;21197561;21890473;24953795;8051184;8182079;8207002;8626519;9147044;9592127 2529 Q11130 AB012668;ABBA01022737;AK313124;AL807752;AMYH02021919;BC032357;BC074746;BC086312;NG_007527;NG_011789;NM_004479;U08112;U11282;X78031 AAA20468;AAA56869;AAH74746;AAH86312;BAA32819;BAG35944;CAA54962;NP_004470;Q11130 Hs.457 1792768;1795874;2163150;5492663 FUT7_665;PMC16366P1;STS-X78031;UniSTS:481955 FucT-VII OTTHUMP00000022654;alpha-(1,3)-fucosyltransferase;alpha-(1,3)-fucosyltransferase 7;fuc-TVII;fucosyltransferase VII;galactoside 3-L-fucosyltransferase;selectin ligand synthase;selectin-ligand synthase APPROVED protein-coding ENSG00000180549 HGNC:4018 03611 602030 REVIEWED 1602203 FUZ fuzzy planar cell polarity protein This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012] 19 19 19 q13.33 47179576 47186020 - 50310123 50316567 - 49806866 49813814 - 6480464;7240710;8554872;8699517 12477932;16189514;16493421;16712791;19056867;21761479;21840926;23824909 80199 E9PK12;E9PKJ4;E9PLA3;E9PS25;G5E9A4;M0QYI7;M0QYX9;M0QZY8;M0R0M0;M0R1D4;Q9BT04 ABBA01032909;AC006942;AK026341;AK057964;AK295072;AK315445;AMYH02036332;BC004445;BC010092;BC016793;BU073247;CB152506;CH471177;NG_032843;NM_001171937;NM_025129;NR_033269;XM_006723397;XM_006723398;XM_006723399;XM_006723400;XM_006723401;XM_006723402 AAH04445;AAH10092;AAH16793;BAB15454;BAG37833;BAG58119;EAW52538;EAW52539;EAW52540;EAW52541;EAW52542;EAW52543;NP_001165408;NP_079405;Q9BT04;XP_006723460;XP_006723461;XP_006723462;XP_006723463;XP_006723464;XP_006723465 Hs.288800 1687868;1728923;2109043;2126116 AP2A1__4334;Ap2a1;RH75669;STS-AA031950 FLJ22688;FY;NTD OTTHUMP00000235602;OTTHUMP00000235603;OTTHUMP00000235604;OTTHUMP00000235606;OTTHUMP00000235608;OTTHUMP00000235609;fuzzy homolog APPROVED protein-coding ENSG00000010361 HGNC:26219 08662 182940;610622 REVIEWED 1604403 FXN frataxin This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 9 9 9 q21.11 42245805 42311090 + 71650479 71715094 + 69035563 69100178 + 2307049;1582636;2307051;2307048;2307050;2307045;1598961;6480464;6484113;7240710;8699517;8554872 10102715;10543403;10969848;12925693;17404227;8596916;9588463 10399865;10428860;10545606;10732799;10874325;10900192;10903947;11020385;11121205;11810294;11823441;11857753;11862710;12019217;12140189;12354077;12354789;12477932;12755598;12785837;14962663;15123683;15180699;15233994;15247478;15304363;15489334;15509595;15534367;15581888;15641778;15827563;15961414;16091420;16203742;16263703;16608849;16677095;16713569;16787388;16857735;17098208;17207965;17262846;17285345;17331979;17468497;17478498;17703324;18045775;18045804;18160053;18379460;18424449;18425540;18464277;18537827;18581197;18597733;18682748;18687468;18697824;18725397;18759347;18768799;19064571;19104905;19182486;19259763;19376812;19679182;19772192;19843162;19913121;19956589;20053667;20301317;20301458;20461801;20506029;20569261;20628086;20808827;20819074;20873749;20877624;20889968;21216878;21298097;21368894;21412413;21531789;21550666;21570254;21671584;21745819;21760943;21776984;21830088;21863062;21890473;22095894;22352884;22399236;22409940;22447512;22522441;22587705;22691228;22764244;22897349;23049850;23082224;23196337;23269675;23334592;23382970;23691127;23859340;23879205;23909240;24023969;24217246;24250222;24737321;24920569;24971490;7485155;8841185;9150176;9180083;9241270;9241271;9302253;9326946;9331900;9700204;9737785;9779809;9989622 2395 C9JAX1;H7C585;Q16595 AA232366;ABBA01033799;AF028240;AI951739;AK308620;AL162730;AMYH02020927;AMYH02020928;AMYH02020929;BC023633;BC048097;BF058880;CH471089;NG_008845;NM_000144;NM_001161706;NM_181425;U43747;U43752;U43753;U93173;U93174;U93175;Y13751 AAA98508;AAA98509;AAA98510;AAB84047;AAD00734;AAD00735;AAD00736;AAH23633;AAH48097;ADQ32463;CAA74077;EAW62473;EAW62474;NP_000135;NP_001155178;NP_852090;Q16595 Hs.20685 1667380;1689274;5015619;5020946;5020948;5037552;5037554;5109281;5118800 D11S3114;D11S3663;D1S1425;D8S2279;D8S2282;G35510;L17971;RH93216;WI-17089 CyaY;FA;FARR;FRDA;MGC57199;X25 Friedreich ataxia protein;OTTHUMP00000021428;OTTHUMP00000215688;OTTHUMP00000215689;frataxin, mitochondrial 2316052 GLUCO208_H APPROVED protein-coding ENSG00000165060 HGNC:3951 06013 229300;606829 REVIEWED 732098 FUT9 fucosyltransferase 9 (alpha (1,3) fucosyltransferase) The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011] 6 6 6 q16 97104994 97305565 + 96463845 96663488 + 96015969 96215612 + 1580863;6480464;6907045;8554872 10386598;10575236;10622713;10929005;11278338;11698403;12107078;12417923;12477932;12626397;14574404;14702039;15489334;16282604;18395013;19460885;20379614;21988832;23000574;23192350;23263199;8889548 10690 Q5Q0U2;Q9Y231 AB023021;ABBA01014528;ABBA01014529;AJ238701;AK095046;AK293817;AK314966;AL034348;AL080093;AL139108;AL512406;AL512447;AL833558;AMYH02014154;AMYH02014155;AY800264;BC036101;CH471051;CK299829;CK904220;NM_006581 AAH36101;AAV67966;ABM85049;BAA81685;BAG37467;BAG57222;CAB41890;EAW48510;EAW48511;NP_006572;Q9Y231 Hs.49117 1684254;1696642;1707630;1711112;1713983;1757543;1762487;1793752;2115706;2125235;5109281 D1S1425;PMC26954P1;RH119421;RH27006;SHGC-144974;SHGC-146306;SHGC-36057;SHGC-56489;SHGC-82954;SHGC-84631;SHGC-86200 Fuc-TIX OTTHUMP00000016877;alpha-(1,3)-fucosyltransferase;alpha-(1,3)-fucosyltransferase 9;fucT-IX;fucosyltransferase IX;galactoside 3-L-fucosyltransferase APPROVED protein-coding ENSG00000172461 HGNC:4020 06036 606865 REVIEWED 1315950 FXR2 fragile X mental retardation, autosomal homolog 2 The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X mental retardation syndrome. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7520871 7544643 - 7494548 7518215 - 7591230 7614897 - 1580863;6480464;8554872 10196376;10556305;10567518;10662545;10888599;11438699;12477932;15144186;15489334;15592455;16189514;16344560;16713569;17081983;17353931;18029348;18664458;19060904;19487368;19615732;19946888;20211142;20442204;20562859;20811636;21072162;21139048;21145461;21903422;21906983;22586326;22675492;23000965;23118916;23537643;23974796;24250222;24457600;24722188;24778252;24816145;7489725;8668200;9259278;9437788 9513 I3L1Z2;P51116 AA593676;ABBA01054873;ABBA01054874;ABBA01054875;AC007421;AC016876;AF044263;AK226082;AK313836;AMYH02032908;AMYH02032909;BC020090;BC051907;BC067272;BT009817;CH471108;DA114906;FJ695203;NG_028105;NM_004860;U31501;XR_243572 AAC03357;AAC50292;AAH20090;AAH51907;AAH67272;AAP88819;BAG36569;EAW90154;EAW90155;NP_004851;P51116 Hs.52788 1646584;1674212;1690194;1730111;5093770 A009W19;D17S812E;G32913;RH76489;STS-N93513 FMR1L2;FXR2P fragile X mental retardation syndrome related protein 2;fragile X mental retardation syndrome-related protein 2;fragile X-mental retardation 1-like 2 APPROVED protein-coding ENSG00000129245 HGNC:4024 05629 605339 REVIEWED 1323342 FXR1 fragile X mental retardation, autosomal homolog 1 The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q28 179062664 179132978 + 180630096 180700541 + 180912308 180982753 + 1580863;6480464 10196376;10527928;10556305;10567518;10888599;11076863;11438699;11735223;12477932;12878157;15489334;15489336;15592455;15782174;15968590;16169070;16381901;17081983;17290396;17382880;18029348;18628314;18664458;18854154;19322201;19471022;19487368;19571811;19596686;19946888;20442204;20696395;21072162;21081666;21139048;21145461;21906983;21963094;22108332;22113938;22505724;22586326;23000965;23555284;23881279;23974796;24389646;24457600;24778252;24816145;7489725;7781595;8125298;8634689;8668200;9259278;9642279;9817930 8087 B4DXZ6;C9IZ22;C9J5B4;C9JAJ4;C9JY20;C9JYQ6;C9JZE0;E7EU85;E9PFF5;H7C4S4;P51114 ABBA01058512;ABBA01058513;AC008009;AF075028;AK225334;AK292633;AK294603;AK297254;AK297331;AK302197;AMYH02008241;AMYH02008242;AMYH02008243;AMYH02008244;AU280585;AY341428;BC010382;BC028983;BQ016986;BX956500;CH471052;CQ834608;CQ834610;DC352767;NM_001013438;NM_001013439;NM_005087;U25165;X90874;XM_005247813;XM_005247814;XM_005247815;XM_005247816;XM_006713775 AAC50155;AAH28983;AAQ20045;BAF85322;BAG57790;BAG59733;BAG59790;BAG63558;CAA62382;CAH05519;CAH05520;CAL37935;CAL38042;CAL38373;EAW78365;EAW78366;EAW78367;EAW78368;EAW78369;EAW78370;EAW78371;EAW78372;NP_001013456;NP_001013457;NP_005078;P51114;XP_005247870;XP_005247871;XP_005247872;XP_005247873;XP_006713838 Hs.478407 1663598;1685642;1719163;1722605;1735244;2128345;2168275;2170038;2173004;2177823;5017781;5492041 A006P45;BI274570;Cda01e11;D3S2910E;D3S3105;FXR1;G60386;RH123299;RH98363;SHGC-53644;SHGC-77579;SHGC-77583 FXR1P;hFXR1p OTTHUMP00000212640;OTTHUMP00000212641;OTTHUMP00000212642;OTTHUMP00000212643;OTTHUMP00000212644;OTTHUMP00000212645;fragile X mental retardation syndrome-related protein 1 APPROVED protein-coding ENSG00000114416 HGNC:4023 02892 600819 REVIEWED 1342669 FXYD2 FXYD domain containing ion transport regulator 2 This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011] 11 11 11 q23 114848637 114856650 - 117690790 117699408 - 117820075 117828092 - 1598986;1580863;6480464;6907045;7240710;8554872;8699517 11062458 10559186;10950925;11112438;11832419;12477932;12907667;14702039;15071553;15252450;15489334;17316900;18000745;18448590;19056867;19865785;19879113;20379810;21130072;22588134;23196795;24204001;24258619;7566098;7916648;9048881;9405479;9463334;9600999;9915957 486 P54710;Q8N8W8 AA309757;AA814197;ABBA01039718;AF241235;AF241236;AF316896;AK096069;AMYH02025635;AP000757;BC005302;BC013289;BT006721;BX641053;CH471065;DQ786191;NG_011543;NM_001680;NM_021603;U50743 AAB09425;AAG34359;AAG34360;AAG34361;AAG37906;AAG37907;AAH05302;AAH13289;AAP35367;BAC04693;EAW67325;EAW67326;NP_001671;NP_067614;P54710 Hs.731865 1298235;1754205;2146701;2173367;5038529 D11S1998;D11S4955;RH47007;SGC33973;SHGC-132239 ATP1G1;HOMG2;MGC12372 ATPase, Na+/K+ transporting, gamma 1 polypeptide;Na(+)/K(+) ATPase subunit gamma;OTTHUMP00000233057;OTTHUMP00000233058;OTTHUMP00000233059;OTTHUMP00000233060;OTTHUMP00000233062;Sodium-potassium-ATPase, gamma polypeptide;sodium pump gamma chain;sodium/potassium-transporting ATPase subunit gamma APPROVED protein-coding ENSG00000137731 HGNC:4026 03487 154020;601814 REVIEWED 1344316 FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase) This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] 14 14 14 q24.3 45932950 46265003 + 65877310 66210839 + 65410592 65744121 + 1580863;6480464;6907045;8554872 10343104;10580126;10764839;10814706;11093814;11698403;12438718;12477932;14514715;14568171;16344263;16344560;17157329;17172260;17488527;18215327;18314154;18330979;18553167;18754874;18854874;19179362;19199708;19302290;19508951;19946888;20379614;20466647;20684602;20802204;21203500;21228108;21652057;2187500;22011814;22190034;22939629;23144326;23251661;23352314;23382691;23609441;24130780;24232099;24250222;2541446;2542563;2649653;2829950;8619474;9110174;9133635;9368041 2530 A8K8P8;G3V443;G3V4A8;G3V509;G3V530;G3V5E3;G3V5Z4;G3XAD2;Q546E0;Q9BYC5 AB032573;AB049740;AB049828;ABBA01018393;ABBA01018394;ABBA01018395;ABBA01018396;ABBA01018397;AF052088;AJ514324;AJ514325;AJ536053;AJ536054;AJ536055;AJ536056;AJ539535;AJ539536;AK292413;AK294242;AL109847;AL161871;AL355840;AL359236;AMYH02029377;AMYH02029378;AMYH02029379;AMYH02029380;AMYH02029381;AMYH02029382;AX662735;BC025385;BC093889;BC101816;BC142958;BQ962258;BX107537;CH471061;D89289;DB089189;GM744701;HB446569;KF455913;KF455916;NM_004480;NM_178155;NM_178156;NR_038167;NR_038170;XM_006720096;XM_006720097;Y17976;Y17977;Y17978;Y17979 AAH93889;AAI01817;AAI42959;BAA19764;BAA92858;BAA92859;BAB40929;BAB40975;BAF85102;BAG57538;CAA76985;CAA76986;CAA76987;CAA76988;CAD55804;CAD55805;CAD59924;CAD59925;CAD59926;CAD59927;CAD62444;CAD62445;CAD79985;CAV31713;CAZ91290;EAW80911;EAW80912;EAW80913;EAW80914;EAW80915;EAW80916;EAW80917;NP_004471;NP_835368;NP_835369;Q9BYC5;XP_006720159;XP_006720160 Hs.597649;Hs.654961 1645068;1656881;1675148;1726321;1739989;1749869;1758267;1777437;1783104;1795876;2115247;2143774;2168380;2176376;2186136 D14S1281;D14S1313;D14S1337;D14S666E;D14S842;D22S1128;FUT8_667;G35488;G35717;G36050;G62461;RH69309;SHGC-111596;SHGC-147853;SHGC-155335 MGC26465 GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase;GDP-fucose--glycoprotein fucosyltransferase;OTTHUMP00000183477;OTTHUMP00000183478;OTTHUMP00000245299;OTTHUMP00000245301;OTTHUMP00000245302;alpha-(1,6)-fucosyltransferase;alpha1-6FucT;glycoprotein 6-alpha-L-fucosyltransferase APPROVED protein-coding ENSG00000033170 HGNC:4019 03994 602589 REVIEWED 1605677 FXYD5 FXYD domain containing ion transport regulator 5 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009] 19 19 19 q13.12 32359062 32374225 + 35645625 35660788 + 35154722 35169885 + 6480464;8554872 10950925;11042152;11342114;11756660;12477932;12970317;12975309;15102690;15459499;15466191;15489334;15619642;15751018;16333245;16341674;17084448;17437014;17442482;18263667;18677652;19217217;19913121;20628086;20712010;20944097;20952084;21239043;21328336;21774927;21809991;21906983;22105147;22494103;22965940;7566098 53827 A8MVG1;F5H4X8;K7EJH6;K7ER99;Q96DB9 AA044211;AA296696;AB072911;ABBA01018735;ABBA01018736;AC002390;AC020907;AF161462;AF177940;AI424071;AK304012;AMYH02035978;AY157582;AY358991;BC009642;BC013834;BC018798;BG025158;BM839241;BQ183683;BQ440098;BQ941279;BT007343;BU164524;BU178888;HI574352;HI574354;NM_001164605;NM_014164;NM_144779;NR_028406;XM_006723245;XM_006723246;XM_006723247 AAF29077;AAG09301;AAH09642;AAO13166;AAP36007;AAQ89350;ABM84673;ABM92202;BAB83766;BAG64927;CBX47665;CBX47666;NP_001158077;NP_054883;NP_659003;Q96DB9;XP_006723308;XP_006723309;XP_006723310 Hs.333418 1670754;1720985;2108107;2166245 A004Z42;EST209638;FXYD5_8051;G59474 HSPC113;IWU-1;IWU1;KCT1;OIT2;PRO6241;RIC DYSAD;FXYD domain-containing ion transport regulator 5;OTTHUMP00000045760;OTTHUMP00000045761;dysadherin;keratinocytes associated transmembrane protein 1 APPROVED protein-coding ENSG00000089327 HGNC:4029 09448 606669 REVIEWED 1347597 FXYD6P2 FXYD domain containing ion transport regulator 6 pseudogene 2 10 10 10 p11.1 38151945 38152232 - 38380692 38380979 - 38091764 38092051 - 100128512 ABBA01033287;AL117339;AMYH02022661;NG_017125 APPROVED pseudo HGNC:4032 INFERRED 1348403 FXYD3 FXYD domain containing ion transport regulator 3 This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008] 19 19 19 q13.12 32320104 32328664 + 35606732 35615228 + 35115828 35124324 + 1580863;6480464 10950925;12477932;12535606;14654946;15489334;16003754;16169070;16288923;16344560;16712791;17077088;17409496;18000745;19109419;19199708;19571376;19893046;19955746;20112499;20364041;20805335;21900206;24250222;7566098;7836447;8521420 5349 Q14802;S4R3M2;S4R445 AA298900;ABBA01018732;AC020907;AK311689;AMYH02035975;AW250864;BC005238;BC090044;BE793135;BI715233;BM549935;BQ676323;BQ682674;BT006712;BU185141;CA948888;CB128589;CR456945;CR542197;DA438143;DA890604;DB202948;NM_001136007;NM_001136008;NM_001136009;NM_001136010;NM_001136011;NM_001136012;NM_005971;NM_021910;U28249;U31214;X93036;XM_005258992;XM_005258993;XM_005258994;XM_005258995;XM_005258996;XM_006723242;XM_006723243 AAA73922;AAA90912;AAH05238;AAH90044;AAP35358;CAA63604;CAG33226;CAG46994;NP_001129479;NP_001129480;NP_001129481;NP_001129482;NP_001129483;NP_001129484;NP_005962;NP_068710;Q14802;XP_005259049;XP_005259050;XP_005259051;XP_005259052;XP_005259053;XP_006723305;XP_006723306 Hs.301350 1654868;1770493;1770495;2159548;5016494 A005M08;G20326;GDB:568724;RH15921;RH17423 MAT-8;MAT8;MGC111076;PLML FXYD domain-containing ion transport regulator 3;chloride conductance inducer protein Mat-8;mammary tumor 8 kDa protein;phospholemman-like protein APPROVED protein-coding ENSG00000089356 HGNC:4027 05410 604996 REVIEWED 1344306 FXYD6P3 FXYD domain containing ion transport regulator 6, pseudogene 3 53823 HGNC:4033 735925 FXYD6 FXYD domain containing ion transport regulator 6 This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011] 11 11 11 q23.3 114865536 114905978 - 117707691 117748201 - 117836976 117877486 - 1580863;6480464;8554872 10950925;11076863;11230166;11256614;12477932;12975309;14702039;15489334;15489336;16169070;16344560;16381901;17357072;18455306;20149392;20468077;21216238;21906983;21983730;21988832;23080069;7566098 53826 E9PHZ3;E9PJ02;J3QKN1;Q9H0Q3 ABBA01039718;AK055389;AK092198;AK289629;AK290757;AK311736;AL035858;AL136699;AL832811;AMYH02025635;AP000757;AW025308;AY358976;BC018652;BC093040;BT006717;BX460202;CH471065;CR533457;DA001721;DA056858;DA086584;DA131017;DA209740;DA779545;NG_013071;NM_001164831;NM_001164832;NM_001164836;NM_001164837;NM_022003;W92638 AAH18652;AAH93040;AAP35363;AAQ89335;ABM84740;ABM92255;BAF82318;BAF83446;CAB66634;CAG38488;CAI46171;CAL37789;CAL37993;EAW67327;EAW67328;EAW67329;EAW67330;EAW67331;EAW67332;EAW67333;EAW67334;EAW67335;EAW67336;EAW67337;NP_001158303;NP_001158304;NP_001158308;NP_001158309;NP_071286;Q9H0Q3 Hs.744850 1663228;1730409;1743403;1760475;1777626;2172193;2182582;2217344;7186305 D11S2293E;D11S3964E;D11S943E;FXYD6_3833;GDB:315997;IB39;RH36630;SHGC-143196 FXYD domain-containing ion transport regulator 6;OTTHUMP00000234693;OTTHUMP00000234694;OTTHUMP00000234695;OTTHUMP00000234696;OTTHUMP00000234697;OTTHUMP00000234698;phosphohippolin APPROVED protein-coding ENSG00000137726 HGNC:4030 09456 606683 REVIEWED 735874 FXYD4 FXYD domain containing ion transport regulator 4 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010] 10 10 10 q11.21 39869483 39874173 + 43867092 43871783 + 43371644 43376335 + 6480464;6907045 10950925;11483503;12217851;12477932;12535606;12763854;12975309;15164054;15489334;24478790 53828 P59646 AA759244;ABBA01050000;AI829935;AL512654;AMYH02022711;AY358584;BC054876;BF507928;BG432244;CH471160;NM_001184963;NM_173160 AAH54876;AAQ88947;ADR82693;EAW86592;EAW86593;EAW86594;NP_001171892;NP_775183;P59646 Hs.130497 1729982;7184648;7184837 D10S94 CHIF FXYD domain-containing ion transport regulator 4;OTTHUMP00000035334;channel-inducing factor APPROVED protein-coding ENSG00000150201 HGNC:4028 07019 REVIEWED 1349556 FXYD6P1 FXYD domain containing ion transport regulator 6 pseudogene 1 10 10 10 q11.21 39054336 39054623 + 43050888 43051175 + 42555440 42555727 + 100128934 ABBA01049990;AL022345;AMYH02022701;NG_017128 APPROVED pseudo HGNC:4031 INFERRED 1350598 FXYD6P3 FXYD domain containing ion transport regulator 6 pseudogene 3 ENCODES a protein that exhibits ion channel activity (inferred); INVOLVED IN ion transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4,6-trinitrotoluene (ortholog); 2,4-dinitrotoluene (ortholog) X X X q13.2 73378824 73380275 + 73095344 73096795 + 73875509 73876960 + 6480464 406875 P58550 ABBA01059634;AL353804;AMYH02039773;NG_009946 P58550 FXYD8 APPROVED pseudo HGNC:31124 INFERRED 1319203 FYCO1 FYVE and coiled-coil domain containing 1 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] 3 3 3 p21.31 45897023 45974921 - 45959391 46037316 - 45917899 45995824 - 1580863;6480464;7240710;8554872;8699517 11896456;12477932;14702039;15342556;15489334;16344560;19946888;20100911;20237496;20364109;20379614;20562859;21139048;21565611;21636066;21832049;22963397;23043107;23455924;24816145 79443 C9J2W6;H7BZ74;Q9BQS8 AA628466;ABBA01024719;ABBA01024720;AC099782;AJ292348;AK023397;AK074165;AL832358;AL833308;AMYH02006668;BC007218;BC101468;BC101470;BC143368;BP249484;BX537863;CH471055;DB134257;NG_031955;NM_024513;XM_005265484;XM_006713333;XM_006713334;XM_006713335;XR_245157 AAH07218;AAI01469;AAI01471;AAI43369;BAB14559;BAB84991;CAC33883;CAD89924;CAD91151;EAW64753;NP_078789;Q9BQS8;XP_005265541;XP_006713396;XP_006713397;XP_006713398 Hs.200227;Hs.739775 1652805;1719695;1739825;1761689;1779310;1784746;1792072;1795660;1854445;2120818;2127048;2160652 CXCR6_566;D3S3486E;PMC135988P4;RH123536;RH45259;SHGC-145665;SHGC-153311;SHGC-154450;SHGC-57094;SHGC-76908;STS-H96723;STS-N31809 CATC2;CTRCT18;DKFZp779K1152;FLJ13335;MGC126517;MGC126519;RUFY3;ZFYVE7 FYVE and coiled-coil domain-containing protein 1;OTTHUMP00000164650;RUN and FYVE domain containing 3;zinc finger FYVE domain-containing protein 7 APPROVED protein-coding ENSG00000163820 HGNC:14673 06215 607182;610019 REVIEWED 732780 FXYD7 FXYD domain containing ion transport regulator 7 This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000] 19 19 19 q13.12 32347590 32358642 + 35634154 35645205 + 35143250 35154302 + 1580863;6480464;8554872 10950925;12093728;12477932;15489334;19913121;20628086;21163940;22535957;9447982 53822 B4DK58;K7EKU3;K7ENE8;P58549 ABBA01018734;ABBA01018735;AC020907;AI929519;AK057825;AMYH02035977;AMYH02035978;BC018619;KF511265;NM_022006 AAH18619;ABM83415;ABM86626;NP_071289;P58549 Hs.134729 FLJ25096 FXYD domain-containing ion transport regulator 7 APPROVED protein-coding ENSG00000221946 HGNC:4034 09457 606684 REVIEWED 734187 FXYD1 FXYD domain containing ion transport regulator 1 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 32343168 32347389 + 35629693 35633959 + 35138789 35143055 + 68780;1580863;6480464 9169143 10087003;10811636;10950925;12477932;12535606;14597563;15489334;16288923;16341674;16921169;17309881;18000745;18052210;19638348;19683723;19879113;20371314;20720179;20861470;21130070;21220422;21449573;21849407;21957166;22275761;22535957;23224879;23672825;7999001;8889548 5348 K7EQG4;O00168 AA524547;ABBA01018733;ABBA01018734;AC020907;AK289811;AMYH02035975;AMYH02035976;BC032800;BM691130;BM856555;BX115036;CS488920;H57207;HY107209;HY111815;HY151101;HY151827;NM_001278717;NM_001278718;NM_005031;NM_021902;R46545;R72515;U72245;XM_005258991 AAC51286;AAH32800;ABW03332;ABW03689;BAF82500;CAM55994;NP_001265646;NP_001265647;NP_005022;NP_068702;O00168;XP_005259048 Hs.442498 1340646;7185352 D19S208 MGC44983;PLM FXYD domain containing ion transport regulator 1 (phospholemman);fxyd domain-containing ion transport regulator 1;phospholemman APPROVED protein-coding ENSG00000266964 HGNC:4025 03837 602359 REVIEWED 4109105 FYTTD1P1 forty-two-three domain containing 1 pseudogene 1 9 9 9 q31.1 74649219 74652331 - 104135610 104138721 - 101373328 101376439 - 100128665 ABBA01042874;AL359893;AMYH02021354;NG_009774;NG_012326 FLJ20300 pseudo HGNC:38035 INFERRED 6766909 FXYD6-FXYD2 FXYD6-FXYD2 readthrough This locus represents naturally occurring read-through transcription between the neighboring FXYD domain-containing ion transport regulator 6 (GeneID 53826) and sodium/potassium-transporting ATPase subunit gamma (GeneID 486) genes on chromosome 11. One read-through transcript produces a fusion protein that shares sequence identity with each individual gene product, while another read-through transcript encodes a protein that has a distinct C-terminus and only shares sequence identity with the upstream locus (GeneID 53826). [provided by RefSeq, Aug 2011] 11 11 q23 117690790 117747746 - 117820075 117877031 - 6480464;8554872 15146197;16344560;20967262 100533181 Q9H0Q3 ABBA01039718;AMYH02025635;AP000757;CN310658;FY211982;FY214031;NM_001204268;NM_001243598 NP_001191197;NP_001230527 Hs.744850 2146701;2173367 RH47007;SGC33973 FXYD6-FXYD2 read-through protein protein-coding ENSG00000137726;ENSG00000255245 HGNC:39978 REVIEWED 1345293 FYTTD1 forty-two-three domain containing 1 ENCODES a protein that exhibits mRNA binding; poly(A) RNA binding; INVOLVED IN mRNA export from nucleus; FOUND IN nuclear speck; nucleoplasm; nucleus; INTERACTS WITH 17beta-estradiol; 2-methylcholine; afimoxifene 3 3 3 q29 196093531 196127401 + 197476424 197511317 + 197749553 197784446 + 737633;6480464 12477932 11076863;11230166;15489336;15862967;16169070;16381901;19836239;21139048;21963094;23084401;24250222;24457600;24778252;24816145 84248 H9KVC1;H9KVC6;H9KVD1;H9KVD5;Q96QD9 ABBA01007563;ABBA01007564;ABBA01007565;ABBA01007566;AC024560;AC055764;AJ344094;AK027672;AK296283;AK302546;AK303462;AK315019;AK316308;AL136558;AMYH02008523;AMYH02008524;BC013602;BC035006;BC039734;BX509179;CH471252;CR533502;H97483;NM_001011537;NM_032288;NR_027840 AAH35006;AAH39734;BAB55284;BAG37509;BAH12300;BAH13737;BAH13966;BAH14679;CAB66493;CAC51432;CAG38533;CAL37931;EAW92240;EAW92241;NP_001011537;NP_115664;Q96QD9 Hs.277533 1342261;1670980;1735276;2155709 D3S2320;D3S2927E;D3S3329;SHGC-77700 DKFZp761B1514;UIF OTTHUMP00000208027;OTTHUMP00000208028;OTTHUMP00000208031;OTTHUMP00000208032;UAP56-interacting factor;forty-two-three domain-containing protein 1;protein 40-2-3 protein-coding HGNC:25407 10909 VALIDATED 7245093 FZD10-AS1 FZD10 antisense RNA 1 (head to head) 12 12 12 q24.33 130250601 130260686 - 130636138 130646223 - 130151593 130161678 - 14702039 440119 ABBA01019802;AC026336;AK056047;AK056281;AK123838;AMYH02027548;AMYH02027549;AMYH02027550;NR_033834 Hs.288262 1746155;1757439 G64711;SHGC-144822 ncrna ENSG00000250208 HGNC:48632 VALIDATED 1347205 FZD10 frizzled class receptor 10 This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008] 12 12 12 q24.33 130261495 130264748 + 130647004 130650285 + 130162459 130165740 + 1580863;2293491;6480464;6907045 15923619 10448064;11597177;11786918;12477932;15489334;15930302;16007199;18271942;19134005;19137009;20037267;20227380;20634891;22780124;9707618 11211 F5H450;Q6NSL8;Q9ULW2 AB027464;ABBA01019803;ABBA01019804;AC026336;AI697875;AL556202;AMYH02027550;BC070037;BC074997;BC074998;CH471054;CS531806;NM_007197 AAH70037;AAH74997;AAH74998;BAA84093;CAM84938;EAW98507;NP_009128;Q9ULW2 Hs.31664;Hs.733275 2108771 FZD10_7998 CD350;FZ-10;Fz10;FzE7;hFz10 OTTHUMP00000238659;frizzled 10;frizzled 10, seven transmembrane spanning receptor;frizzled family receptor 10;frizzled homolog 10;frizzled-10 APPROVED protein-coding ENSG00000111432 HGNC:4039 05853 606147 REVIEWED 732935 FZD3 frizzled class receptor 3 This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010] 8 8 8 p21 27311635 27381797 + 28351722 28431785 + 28494205 28574268 + 704404;1582654;1582650;1582649;1582651;1580863;2293492;6480464;6907045 14642436;15274031;15657645;17226800;9147651 10491302;10777673;10873558;11407985;12011974;12477932;15340161;15364045;16344560;16707163;17982906;18212053;18256285;18583979;18584117;18702828;19038973;19054571;19277043;19388021;20206998;20219685;20819778;22027177;24255701;24991956;8889548;9192640 7976 E5RGI9;Q9NPG1 AB039723;ABBA01005603;ABBA01005604;AC011132;AJ272427;AK291480;AMYH02017687;AMYH02017688;AY005130;BC034278;BC042009;BU676090;CH471080;DA250029;NG_029723;NM_017412;NM_145866 AAF89088;AAI56294;AAI72481;BAA94968;BAF84169;CAB89114;EAW63511;NP_059108;NP_665873;Q9NPG1 Hs.40735;Hs.734277 1724531;1846590;1851538;2122757;2148937;2177966;5020635 A007B14;D7S3207;RH122525;RH12433;RH15824;SGC31127;STS-AA024552 Fz-3;hFz3 OTTHUMP00000128338;frizzled 3, seven transmembrane spanning receptor;frizzled family receptor 3;frizzled homolog 3;frizzled-3 APPROVED protein-coding ENSG00000104290 HGNC:4041 05849 606143 REVIEWED 1603714 FYB FYN binding protein The protein encoded by this gene is an adapter for the FYN protein and LCP2 signaling cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 5 5 5 p13.1 38991920 39106222 - 39105354 39270759 - 39105252 39274523 - 6480464;8554872 10229084;10409671;10469599;10497204;10502464;10570256;10747096;10856234;10942756;12458214;12477932;14702039;15144186;15342556;15843031;15849195;16020549;16461356;16503409;16831444;16980616;17474147;17511475;17785790;18067320;18802088;19798671;19807924;20164171;20379614;21536650;21881001;23628395;23979596;24047317;24523237;24769494;24816145;7504057;9115214;9207119;9671755;9748251;9755858 2533 D6RAE8;D6RC38;D6RER7;D6RFJ5;O15117;Q05DE9 ABBA01024208;ABBA01024209;ABBA01024210;AC008964;AC010633;AC025471;AF001862;AF116653;AF198052;AI961953;AK123918;AK130159;AK290403;AK297077;AMYH02011196;AMYH02011197;AV761195;BC015933;BC017775;BC058827;BC117449;BC143645;BP265190;BQ015514;BX647195;BX647196;CD691549;CD701507;CH471119;KF457888;NG_029596;NM_001243093;NM_001465;NM_199335;U93049;XM_006714464;XM_006714465;XM_006714466 AAB62226;AAC51300;AAF62400;AAF71073;AAH15933;AAI17450;AAI43646;BAF83092;BAG59594;EAW55981;EAW55982;EAW55983;EAW55984;EAW55985;NP_001230022;NP_001456;NP_955367;O15117;XP_006714527;XP_006714528;XP_006714529 Hs.370503;Hs.691768 1673100;1678711;1770717;1797548;1852655 D14S897;FYB_2226;RH44564;SGC34783;STS-W95074 ADAP;PRO0823;SLAP-130 FYB-120/130;FYN-T-binding protein;FYN-binding protein;FYN-binding protein (FYB-120/130);OTTHUMP00000221177;OTTHUMP00000221178;OTTHUMP00000221179;OTTHUMP00000221180;SLP-76-associated phosphoprotein;adhesion and degranulation promoting adaptor protein;adhesion and degranulation-promoting adaptor protein;p120/p130 APPROVED protein-coding ENSG00000082074 HGNC:4036 04107 602731 REVIEWED 732091 FZD2 frizzled class receptor 2 This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010] 17 17 17 q21.1 39345439 39347421 + 42634812 42638630 + 44557444 44561262 + 1580863;2298699;2298700;4107053;6480464;6484113;6907045;8554872 12909487;15492823;8762054 12067714;12477932;12839624;15146197;15489334;18215320;18929644;19038973;19308021;19388021;19910923;19946729;20634891;21850537;21890473;21963094;22101459;7558010;7829101;8626800;9707618;9813155 2535 Q14332;Q86UZ8 AB017364;ABBA01028362;ABBA01028363;AC103703;AI376463;AMYH02033488;AW023425;BC052266;BC113402;BC113404;CH471178;CN417837;L37882;NM_001466 AAB46397;AAH52266;AAI13403;AAI13405;BAA34667;EAW51591;NP_001457;Q14332 Hs.142912;Hs.732654 1792738;2112342;2127323;2217348;5022200 D17S2172;FZD2_3980;L18426;PMC16008P1;RH66817 Fz2;fz-2;fzE2;hFz2 frizzled 2, seven transmembrane spanning receptor;frizzled family receptor 2;frizzled homolog 2;frizzled-2 APPROVED protein-coding HGNC:4040 02813 600667 REVIEWED 1343855 FZD6 frizzled class receptor 6 This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011] 8 8 8 q22.3-q23.1 100497508 100531944 + 104310661 104345094 + 103298433 103332866 + 1580863;2293492;6480464;6484113;6907045;8699517;7240710;8554872 17226800 10347172;12477932;14747478;15265686;15370539;15489334;16344560;17516841;18029348;19034702;1927703;19322201;19453261;19543507;21139048;21665003;21906983;21937024;21963094;22045688;22078044;22211385;22249030;22861124;23374899;24500924;24657404;8626800;9480858 8323 B4E236;E5RGK8;E5RJG0;E5RJT4;G5EA13;O60353 AB012911;AB065702;AB209734;ABBA01037632;ABBA01037633;AC025370;AF072873;AF363578;AK296824;AK299341;AK304092;AK313789;AK316544;AMYH02018541;AMYH02018542;AU130184;AU152862;AW511572;BC036106;BC060836;BX640609;CD652975;CH471060;CQ834498;DC417200;DC418286;NG_028909;NM_001164615;NM_001164616;NM_003506;XR_428385 AAD41637;AAH60836;AAL50384;BAA25686;BAC05925;BAD92971;BAG36526;BAG59395;BAG61342;BAG64998;BAH14915;CAE45715;CAH05464;EAW91867;EAW91868;EAW91869;EAW91870;EAW91871;EAW91872;EAW91873;NP_001158087;NP_001158088;NP_003497;O60353 Hs.591863;Hs.676099 1664136;1778201 RH78755;SHGC-33320 FZ-6;FZ6;Hfz6;NDNC10 OTTHUMP00000227684;OTTHUMP00000227685;OTTHUMP00000227687;frizzled 6, seven transmembrane spanning receptor;frizzled family receptor 6;frizzled homolog 6;frizzled-6;seven transmembrane helix receptor APPROVED protein-coding ENSG00000164930 HGNC:4044 04559 603409;614157 REVIEWED 1345907 FZD5 frizzled class receptor 5 Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008] 2 2 2 q33.3 202389191 202396022 - 208627310 208634143 - 207762586 207769419 - 1580863;6480464;6484113;6907045 10906785;11029007;11230166;11408929;11520064;12121999;12477932;12490564;12839624;12857724;15338479;15370539;15694380;15815621;16601243;16890161;17273778;18077588;18174455;18230341;18838381;19453261;19543507;19643732;20227366;20525402;21344486;21900206;21988832;23337955;23610556;24706725;8626800;9054360;9192640;9707618 7855 Q13467 AB043702;ABBA01062689;AC096772;AK000125;AK024850;AL136852;AMYH02005648;BC035962;BC048322;BC058895;BC095474;BC114346;BF059357;CH471063;CR533442;NM_003468;U43318 AAC50385;AAI56525;AAI72518;AAY24058;BAB60959;CAB66786;CAG38473;EAW70426;NP_003459;Q13467 Hs.17631 1792740;1797118;2158999;2165916 FZD5;PMC16008P2;STS-T95625;STS-U43318 C2orf31;DKFZp434E2135;HFZ5;MGC129692;fz-5;fzE5 OTTHUMP00000206654;Wnt receptor;frizzled 5, seven transmembrane spanning receptor;frizzled family receptor 5;frizzled-5;seven-transmembrane receptor frizzled-5 APPROVED protein-coding ENSG00000163251 HGNC:4043 03427 601723 REVIEWED 734067 FZD9 frizzled class receptor 9 Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68326020 68328361 + 72848109 72850450 + 73433779 73436120 + 1580863;2292645;6480464;6907045 18177422 10198163;12138115;12477932;12853948;14688793;15370539;15705594;16189514;16835228;18832655;19038973;19543507;19724923;20398908;20458727;20501643;914765;9147651;9192640;9707618 8326 O00144;Q8TAN2 ABBA01063957;AC005049;AMYH02016021;BC026333;CH471200;NG_012028;NM_003508;U82169 AAC51174;AAH26333;AAQ93359;ABM84300;ABM87695;EAW69682;NP_003499;O00144 Hs.647029 1655809;2109335;5021949 FZD9_7271;Fzd10;STS-U82169 CD349;FZD3;fz-9;fzE6;hFz9 OTTHUMP00000160317;frizzled 9, seven transmembrane spanning receptor;frizzled family receptor 9;frizzled homolog 9;frizzled-9 APPROVED protein-coding ENSG00000188763 HGNC:4047 03460 601766 REVIEWED 1604363 G0S2 G0/G1 switch 2 INVOLVED IN extrinsic apoptotic signaling pathway; positive regulation of extrinsic apoptotic signaling pathway; FOUND IN mitochondrion; INTERACTS WITH 1-nitropyrene; 17beta-estradiol; 5-fluorouracil 1 1 1 q32.2 183079559 183080622 + 209848670 209849735 + 209675325 209676390 + 6480464 10645953;12477932;15489334;16086669;16341674;16710414;18636162;1930693;19706769;19816938;19878646;21613358;21988832;22535977;22716248;22891293;23383108;23546556;23951308;24183236;9428793 50486 P27469 ABBA01048215;AL031316;AMYH02002598;AV709160;BC009694;BM788126;BT007101;CH471100;CR542179;CR542193;M69199;M72885;NM_015714 AAA58966;AAB04044;AAH09694;AAP35765;ABM85536;ABW03730;CAG46976;CAG46990;EAW93447;NP_056529;P27469 Hs.432132 1797550;2121510;2177801;7183991 D1S3296;G0S2_2358;RH69169 RP1-28O10.2 G0/G1 switch protein 2;G0/G1 switch regulatory protein 2;G0/G1switch 2;OTTHUMP00000034644 APPROVED protein-coding ENSG00000123689 HGNC:30229 09968 614447 VALIDATED 731929 FYN FYN proto-oncogene, Src family tyrosine kinase This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008] 6 6 6 q21 112729071 112941209 - 111981535 112194655 - 111660332 111873452 - 1358600;1580863;1358602;1358593;704404;2298729;2324970;2324866;2324864;5131492;5147998;6480464;6484113;6907045;8554872 11226670;12353920;12670706;12778121;14999081;15380937;15708437;17658244;9551931 10022833;10089404;10092522;10196263;10209036;10212213;10224664;10229084;10339567;10383400;10435619;10447714;10458595;10482988;10498895;10532312;10544125;10551884;10564280;10570256;10571044;10571082;10586033;10591186;10629042;10636929;10642173;10708762;10733577;10739664;10744724;10764799;10790433;10799548;10804218;10816433;10829062;10858437;10867021;10871840;10872802;10896916;10921922;10945997;11005864;11024032;11075717;11078745;11087735;11121167;11149959;11157475;11158295;11162638;11204284;11239464;11262396;11278378;11278857;11298344;11353545;11356869;11423543;11466305;11483358;11483655;11526103;11536198;11546790;11594778;11598189;11604131;11677266;11684709;11711534;11724572;11739737;11741599;11741929;11744621;11777936;11806999;11820784;11826099;11839780;11943772;11943848;11960376;11983687;119942;11994282;12084815;12089510;12096713;12138090;12150984;12171928;12181444;12218089;12231245;12237775;12244095;12244174;12368035;12370810;12372285;12374739;12408980;12419528;12426371;12431372;12450793;12458214;12471123;12477932;12496362;12509223;12524444;12526739;12529448;12538589;12545174;12558988;12589038;12640114;12660731;12668668;12695509;12697812;12730241;12753742;12788081;12835311;12846735;12857875;12893833;12917446;12932824;12941616;1334406;1351058;1361685;1384720;1385527;1387715;1446976;14506255;14517306;14530346;1454062;14574404;14647465;14662334;14675807;14684825;14702039;14757743;14761954;14761972;14965316;14980517;14993658;15033366;15078178;15082191;15098360;15144186;15169881;15175272;15190072;15206927;15208330;1530920;15345594;15345598;1544885;15489334;15494732;15514010;15536091;15537652;15556646;15557120;15588985;15611048;15638726;15707590;15713745;15872086;15925565;16014719;16115884;16145685;16237174;16316995;16344560;16374509;16387660;16400523;16454711;16479011;16503409;16537602;16597701;16713569;16777849;16782058;16818765;16831868;16860569;16882656;16888650;16891393;16899217;16938345;1696179;16964398;1699196;17129785;17130124;1715582;17164290;1717997;17189269;17192257;17334644;17417065;17474147;17599905;17701175;17703099;17785434;17943724;18056706;18067320;18089558;18174230;18180382;18267011;18337055;18564062;18628988;18710921;18714047;18842137;18849153;18922801;18978678;18991950;19131339;19258392;19258394;19290918;19330793;19468241;19501919;19542604;19567819;19690143;19711372;19728795;19733625;19805512;19807924;19816407;1985196;19913121;19917775;19953087;19955046;19958149;19968749;20012528;20056178;20056645;20151426;20182632;20360068;20506281;20534535;20584982;20628086;20658524;20682987;20855525;21098700;21139048;21298565;21364031;21371426;21480388;21513984;21592972;21642356;21692989;21738584;21749309;21757751;21799250;21881001;21890473;21900206;21952639;21963094;21988832;22161863;22189847;22354875;22403409;22422068;22442244;22447928;22474169;22653218;22689581;22709448;22745667;22833681;22843238;22868769;22939624;22987042;23000965;23055554;23077515;23128233;23131831;23175838;23188823;23250004;23300847;23405030;23438599;23455924;23497302;23559827;23606749;23805846;23836527;23851594;23915951;23918783;24413734;24489884;3099169;3330788;3526330;7504057;7515933;7516469;7517401;7521304;7525550;7537495;7545683;7565724;7588629;7589084;7589101;7589480;7595520;7642581;7664083;7681396;7682059;7687536;7722293;7760813;7782294;7822789;7859737;7929439;8058772;8104794;82;8262983;8264796;8294442;8394019;8395016;8483935;8493579;8566014;8621384;8621719;8626376;8626543;8631859;8655574;8662998;8671590;8681387;8756631;8760790;8798684;8805332;8805554;8810341;8883579;8900205;8910336;8961927;8980254;8995358;8995379;9028946;9032261;9038134;9043947;9045636;9047237;9060467;9079653;9091579;9104812;9118959;9121430;9169421;9185665;9188452;9195899;9195918;9196040;9207119;9230816;9252391;9269777;9295288;9311917;9344703;9344857;9351806;9351809;9360983;9366405;9368621;9417082;9425276;9446569;9507006;9531288;9535845;9535867;9553134;9573028;9576921;9603925;9632142;9648856;9670010;9674711;9677430;9687533;9710204;9712716;9741627;9748251;9750131;9756930;9763511;9778343;9799234;9804857;9819391;9822663;9837776;9837978;9846481;9856337;9890970;9892651;9973379 2534 B3KPS6;E5RFM0;E5RFM4;E5RFM6;E5RFS5;E5RGM6;E5RGT0;E5RH71;E5RHF7;E5RHX7;E5RI25;E5RIX5;E5RJX7;E5RK23;P06241 AB451293;AB451426;ABBA01026083;ABBA01026084;ABBA01026085;AI187118;AK056699;AL109916;AL158035;AMYH02014306;AMYH02014307;AY429536;BC032496;BI552534;BP391373;CH471051;CX781584;CX872011;DA570412;DA815564;DA922886;DA931034;M14333;M14676;NM_002037;NM_153047;NM_153048;S74774;XM_005266887;XM_005266888;XM_005266889;XM_005266890;XM_005266892;XM_006715429;Z97989 AAA36615;AAB33113;AAC08285;AAH32496;ADZ15411;BAG51788;BAG70107;BAG70240;EAW48278;EAW48279;EAW48280;EAW48281;EAW48282;EAW48283;EAW48284;NP_002028;NP_694592;NP_694593;P06241;XP_005266944;XP_005266945;XP_005266946;XP_005266947;XP_005266949;XP_006715492 Hs.390567;Hs.664520 1340521;1649380;1652163;1657447;1662444;1662446;1670149;1688215;1695652;1741965;1769389;1769391;1771952;1795880;1857405;2150723;2183345 A005Q39;AL022469;AL023485;D6S2035;D6S302;FYN_1578;G20422;GDB:187104;RH46682;RH46768;RH48180;RH76192;SHGC-30883;SHGC-31232;SHGC-78694;SHGC-960;STS-N35086 MGC45350;SLK;SYN;p59-FYN FYN oncogene related to SRC, FGR, YES;OKT3-induced calcium influx regulator;OTTHUMP00000017914;OTTHUMP00000017915;OTTHUMP00000017916;OTTHUMP00000017917;OTTHUMP00000226354;OTTHUMP00000226453;c-syn protooncogene;protein-tyrosine kinase fyn;proto-oncogene Syn;proto-oncogene c-Fyn;proto-oncogene tyrosine-protein kinase fyn;src-like kinase;src/yes-related novel;tyrosine kinase p59fyn(T);tyrosine-protein kinase Fyn APPROVED protein-coding ENSG00000010810 HGNC:4037 00655 137025 REVIEWED 736680 FZD4 frizzled class receptor 4 This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008] 11 11 11 q14.2 83968074 83977786 - 86656717 86666440 - 86945675 86955398 - 1598999;1580863;2298702;6480464;6907045;7240710;8554872;8699517 12172548;18068632 10544037;11401527;12044878;12067714;12477932;12958364;14507768;14688793;14737064;15024691;15035989;15195140;15223780;15370539;15488808;15489334;15981244;1598965;17093393;17386109;17955262;18156211;18161623;18787502;18976975;19020754;19172507;19277043;19388021;19453261;19643732;20008721;20141357;20301326;20340138;20634891;20713528;20819778;20938005;21097938;21363911;21900206;22057916;22574936;22575959;23077402;23441120;24250222;24744206;24816145;9707618 8322 Q9BY80;Q9ULV1 AB032417;AB054881;AB083613;ABBA01017318;AK025516;AK025791;AK292768;AMYH02025237;AP001528;AY462097;BC025750;BC114527;BC114622;CH471076;NG_011752;NM_012193 AAI14528;AAI14623;AAR23924;BAA86286;BAB40811;BAB89326;BAF85457;EAW75147;NP_036325;Q9ULV1 Hs.591968 1338852;1675427;1797204;1850572;2109333;2144612;2144614;2159963;5015619;5015861;5015961;5022200;7185938 A006F30;D10S16;D11S3114;D11S896;D15S1477;FZD4;FZD4_7916;G20766;L18426;RH48350;RH91382;STS-R26141 CD344;EVR1;FEVR;FZD4S;Fz-4;Fz4;FzE4;GPCR;MGC34390;hFz4 OTTHUMP00000235516;WNT receptor frizzled-4;frizzled 4, seven transmembrane spanning receptor;frizzled family receptor 4;frizzled homolog 4;frizzled-4 APPROVED protein-coding ENSG00000174804 HGNC:4042 05203 133780;604579 REVIEWED 1314691 FZD7 frizzled class receptor 7 Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008] 2 2 2 q33 196651081 196654931 + 202899310 202903160 + 202034587 202038437 + 1580863;2292645;2316755;6480464;6484113;6907045;8554872 12057921;18177422 11256614;12067714;12477932;15195140;15370539;15489334;15901282;16189514;16713569;17016432;17716656;18156211;18215320;18256285;18313787;18592008;18676680;18681827;18951430;18978678;19170196;19188438;19388021;19453261;19543507;19625176;19655379;19692168;19773752;20634891;21139048;21314951;21532620;21906983;24474766;9192640;9707618;9813155 8324 O75084 AB010881;AB017365;ABBA01062552;AC069148;AMYH02005555;BC015915;CH471063;NM_003507 AAH15915;AAX93250;ADZ15451;BAA32424;BAA34668;EAW70298;NP_003498;O75084 Hs.173859 1707804;2217350 FZD7_3908;SHGC-82128 FzE3;fz-7;hFz7 Frizzled, drosophila, homolog of, 7;OTTHUMP00000163742;frizzled 7, seven transmembrane spanning receptor;frizzled family receptor 7;frizzled homolog 7;frizzled-7 APPROVED protein-coding ENSG00000155760 HGNC:4045 04560 603410 REVIEWED 1350514 FZD8 frizzled class receptor 8 This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008] 10 10 10 p11.21 35693623 35696808 - 35927177 35930362 - 35638249 35641434 - 1580863;6480464;6907045 11029007;11076863;11295046;11448771;11452312;11520064;12477932;15164054;15370539;15454084;15908424;17549794;18256285;18464913;18505162;20093360;20634891;21872498;22303445;22699663;22738385;22808956;23815780;8626800;9192640 8325 Q9H461 AB043703;ABBA01033331;ABBA01033332;ABBA01033333;AF086500;AL121749;AMYH02022627;AMYH02022628;AMYH02022629;AMYH02022630;CH471072;NG_029968;NM_031866 AAI11846;BAB41064;EAW85909;NP_114072;Q9H461 Hs.302634 1659917;1721933;2107127;2159339 FZD8_7918;G59999;RH45143;RH78624 FZ-8;hFZ8 OTTHUMP00000019454;frizzled 8;frizzled 8, seven transmembrane spanning receptor;frizzled family receptor 8;frizzled homolog 8;frizzled-8 APPROVED protein-coding HGNC:4046 05852 606146 REVIEWED 1604397 G3BP1 GTPase activating protein (SH3 domain) binding protein 1 This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 5 5 5 q33.1 147232867 147266308 + 151151476 151184915 + 151771915 151811352 + 6480464;8554872 10404389;11439350;11604510;11888885;12477932;12642610;1461655;14702039;15144186;15302935;15471883;15489334;15602692;15743820;15782174;16009940;16055720;16094384;16196087;16565220;16996479;17081983;17210633;17253181;17297477;17353931;17361185;17620012;17620599;17696235;17725712;18029348;18079183;18781797;19135240;19322201;19615732;19738201;20020773;20180778;20424128;20562859;20643132;20663914;20696395;21139048;21145461;21182205;21206022;21257637;21266361;21304914;21665939;21832049;21890473;21906983;21963094;21988832;22145905;22190034;22205990;22446626;22505724;22586326;22623428;22767504;22833567;22863883;22939629;22990118;23000965;23087212;23151878;23163895;23230274;23279204;23455922;23940030;24130170;24157923;24321297;24324649;24457600;24583282;24778252;24816145;24839885;24992036;24998844;8125298;8649363;9632780;9889278 10146 E5RH00;E5RH42;E5RI46;E5RIF8;E5RIZ6;E5RJU8;Q13283;Q5U0Q1;Q6ZP53 ABBA01026260;ABBA01026261;AC091982;AK091592;AK128316;AK130003;AK222606;AK300098;AK303580;AK309172;AK312572;AMYH02012474;AMYH02012475;BC006997;BC108278;BG703413;BT019384;BU517281;BX647869;BX648012;CH471062;CQ834172;CR536535;NM_005754;NM_198395;U32519;X78262;XM_006714749;XM_006714750 AAB07787;AAH06997;AAI08279;AAV38191;ABM83984;ABM87307;BAC85272;BAD96326;BAG35467;BAG61899;BAH13990;CAG38772;CAH05301;CAI46065;CAI46067;EAW61659;EAW61660;EAW61661;EAW61662;NP_005745;NP_938405;Q13283;XP_006714812;XP_006714813 Hs.3353;Hs.587054 1667011;1672509;1673593;1683651;1754725;2142547;2145350;5014039;5022200;5022576;5024761;5117897;5125193;5125640 A006P05;D1S1361;D22S1584;GDB:631813;L18426;RH36905;RH48895;RH65262;RH93721;SGC31629;SHGC-133085;SHGC-64132;WI-11822;WI-20662 G3BP;G3BP-1;HDH-VIII;MGC111040 ATP-dependent DNA helicase VIII;GAP SH3 domain-binding protein 1;GAP binding protein;OTTHUMP00000160618;OTTHUMP00000224181;Ras-GTPase-activating protein SH3-domain-binding protein;RasGAP-associated endoribonuclease G3BP;ras GTPase-activating protein-binding protein 1 APPROVED protein-coding ENSG00000145907 HGNC:30292 06569 608431 REVIEWED 1344189 G6PC2 glucose-6-phosphatase, catalytic, 2 This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q24.3 163383072 163391831 + 169757750 169766510 + 168901240 168910000 + 6480464;6907045 10078553;10078554;11297555;12477932;12815107;14722102;15044018;16012821;16493034;16520917;17376840;17607665;18451265;18521185;18753309;18984742;19060907;19060910;19082990;19096518;19125775;19238352;19533084;19651812;19669124;19741163;19741166;19937311;20029179;20081858;20571754;20622168;20628598;20668700;20816152;20826583;20858683;21036910;21515849;22286219;22399527;22438186;22486180;22508271;22581228;22916037;22983906;23508304;23840762;23903356;24030068;24405752 57818 C9IYU7;Q9NQR9 ABBA01004959;ABBA01004960;AC069137;AF283575;AF283835;AK310853;AMYH02005174;BC104778;BC113376;BQ268961;CA865646;CH471058;CR627438;NG_011682;NM_001081686;NM_021176 AAF82810;AAI04779;AAI13377;AAY24099;ADR82936;CAH10524;EAX11291;NP_001075155;NP_066999;Q9NQR9 Hs.283963 1739149 D2S1914 IGRP;MGC141936 G-6-Pase 2;G6Pase 2;OTTHUMP00000163045;OTTHUMP00000207339;glucose-6-phosphatase 2;islet-specific G6CP-related protein;islet-specific glucose-6-phosphatase catalytic subunit-related protein;islet-specific glucose-6-phosphatase-related protein 2314777 GLUCO106_H APPROVED protein-coding HGNC:28906 16272 608058 REVIEWED 1602228 G3BP2 GTPase activating protein (SH3 domain) binding protein 2 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA transport (inferred); transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH all-trans-retinoic acid; arsenous acid; benzo[a]pyrene 4 4 4 q21.1 73864091 73894093 - 76567953 76649709 - 75642769 75724525 - 6480464;8554872 10969074;12477932;15345747;15489334;15717329;15782174;16055720;16196087;16341674;16344560;16973615;17081983;17297477;17353931;17361185;17474147;17620599;18029348;18781797;19322201;19471022;19615732;20020773;20811636;21139048;21145461;21182205;21319273;21890473;21906983;21963094;21985131;22190034;22505724;22536444;23000965;23087212;23181366;23279204;23383273;23825951;24250222;24457600;24654937;24778252;24816145;24992036;8619474;9110174;9575347;9734811 9908 D6R9A4;D6R9X5;D6RAC7;D6RB17;D6RBM9;D6RBR0;D6RBW8;D6RE13;D6REX8;D6RGJ4;H0YAE3;Q9UN86 AA781267;AB014560;ABBA01063345;ABBA01063346;AC104828;AF051311;AF053535;AF070615;AF145284;AI913597;AK291772;AK291786;AMYH02009491;BC011731;BI560692;BM744299;CB996973;CD706717;CH471057;DA094091;DA385285;DB241424;NM_012297;NM_203504;NM_203505;XM_005263382;XM_005263383;XM_005263384;XM_005263385;XM_005263386 AAC15705;AAC95292;AAD51932;AAH11731;BAA31635;BAF84461;BAF84475;EAX05742;EAX05743;EAX05744;EAX05745;EAX05746;EAX05747;EAX05748;NP_036429;NP_987100;NP_987101;Q9UN86;XP_005263439;XP_005263440;XP_005263441;XP_005263442;XP_005263443 Hs.303676 1671827;1719955;1735420;1745999;1766215;2143118;2171992 D4S2596E;G16726;RH123956;RH125852;SHGC-149579;SHGC-59235;SHGC-59780 G3BP-2 GAP SH3 domain-binding protein 2;OTTHUMP00000160586;OTTHUMP00000160587;OTTHUMP00000160588;OTTHUMP00000219241;Ras-GTPase activating protein SH3 domain-binding protein 2;ras GTPase-activating protein-binding protein 2 protein-coding ENSG00000138757 HGNC:30291 06570 VALIDATED 1346544 G6PDL glucose-6-phosphate dehydrogenase-like 7240710 3752086 2540 HGNC:4058 736011 G6PC glucose-6-phosphatase, catalytic subunit Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011] 17 17 17 q21 37708948 37721525 + 41052814 41066450 + 42900797 42914433 + 1582633;704404;728661;1580863;1300048;2302970;2302850;2302851;2315963;2315965;2315966;2315959;2315960;6480464;6484113;6907045;7240710;8554872;8699517 10866049;11440903;12595588;15138155;15448092;16176150;16396963;4303362;4353083;8865366 10023055;10024523;10026167;10094563;10318794;10447271;10452914;10612834;10748407;10960498;11672436;11739393;12093795;12189168;12373566;12444104;12477932;12556524;12560945;13129915;14718531;14759518;15316959;15661744;15696478;15918042;16892178;16893891;17354259;175958;18008183;18449899;18660489;18805788;18847435;19082990;19587243;19832742;20004937;20301489;20509832;21109326;212064;21328436;2172641;21733854;21983240;21988832;23465595;23755305;24355556;2547044;2986020;7573034;7623438;7655466;7668282;7774924;8182131;8211187;8612793;8640227;8733042;9001800;9332655;9428641;9675154;9705299 2538 K7ELS6;P35575 ABBA01006403;ABBA01006404;AC016889;AF051355;AK303771;AK313982;AMYH02033441;AW614228;BC130478;BC136369;CH471152;NG_011808;NM_000151;NM_001270397;U01120;X96937 AAA16222;AAD11621;AAI30479;AAI36370;ADR83154;BAG36695;BAG64735;CAA65638;EAW60901;EAW60902;NP_000142;NP_001257326;P35575 Hs.212293;Hs.742566 1647526;1847085;5016781;5017227 G38154;RH17972;SGC35243;SHGC-67307 G-6-Pase;G6PC1;G6PT;G6Pase;GSD1;GSD1a;MGC163350 G6Pase-alpha;glucose-6-phosphatase;glucose-6-phosphatase alpha APPROVED protein-coding HGNC:4056 01983 232200;613742 REVIEWED 736261 FZD1 frizzled class receptor 1 Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008] 7 7 7 q21 85598534 85602883 + 90893783 90898132 + 91264468 91268817 + 1580863;2298699;2293491;6480464;6907045;8554872 15492823;15923619 10557084;12012019;12067714;12477932;12690205;12853948;14739301;15252441;15370539;15489334;16442268;17496152;17895994;18382662;18715140;18929644;19148501;19188438;19277043;19388021;19421142;19453261;19543507;19643732;20051274;20634891;21906983;22303445;22484497;22505724;22939629;23259602;23442549;23806799;23921915;9707618;9813155 8321 Q9UP38 AB017363;ABBA01045823;AC084381;AF072872;AK314996;AL049994;AMYH02016248;BC017719;BC051271;CH236949;CH471091;NM_003505 AAD41636;AAH51271;AAS02008;BAA34666;BAG37492;EAL24161;EAW76871;NP_003496;Q9UP38 Hs.94234 1681676;1798578;1806262;1810270;1811808;1815900;1822248;1823946;1850773;2078996;2078998;2079000;2079002;2079004;2079006;2079008;2079010;2079012;2079014;2079016;2079018;2079020;2079022;2079024;2079026;2079028;2079030;2079032;2079034;2079036;2079038;2079040;2079042;2079044;2079046;2079048;2079050;2079052;2179116;2195430;2195432;2195434;2195436;2217346 ECD00128;ECD04086;ECD06127;ECD06908;ECD08990;ECD12210;ECD13068;FZD1_3907;REN110705;REN110706;REN110707;REN110708;REN110709;REN110710;REN110711;REN110712;REN110713;REN110714;REN110715;REN110716;REN110717;REN110718;REN110719;REN110720;REN110721;REN110722;REN110723;REN110724;REN110725;REN110726;REN110727;REN110728;REN110729;REN110730;REN110731;REN110732;REN110733;RH93094;STS-AA010162;STS-N70776;stSG615199;stSG615200;stSG615201;stSG615202 DKFZp564G072;FLJ95923;fz-1;fzE1;hFz1 OTTHUMP00000024664;Wnt receptor;frizzled 1, seven transmembrane spanning receptor;frizzled family receptor 1;frizzled homolog 1;frizzled, Drosophila, homolog of, 1;frizzled-1 APPROVED protein-coding HGNC:4038 04558 603408 REVIEWED 1321062 G2E3 G2/M-phase specific E3 ubiquitin protein ligase ENCODES a protein that exhibits ligase activity (inferred); ubiquitin-protein transferase activity (inferred); zinc ion binding (inferred); INVOLVED IN apoptotic process (inferred); blastocyst development (inferred); negative regulation of intrinsic apoptotic signaling pathway (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 14 14 14 q12 10894160 10954826 + 31028329 31089046 + 30559123 30619840 + 1580863;6480464 10718198;11483598;12477932;14667819;14702039;15489334;16189514;16344560;17239372;18029348;18511420;21139048;21890473;22939624;23000965;8125298 55632 B4DIF9;F5GX24;F8VY49;F8W0F5;G3V3B6;G3V483;G3V5B6;H0YH90;H0YI49;Q7L622 AB037754;ABBA01061403;AI432917;AK000340;AK022867;AK093536;AK225346;AK295571;AK296872;AL117355;AMYH02028936;AMYH02028937;BC000973;BC008436;BC040179;CH471078;DA491192;KF495757;NM_017769;XM_005267836 AAH00973;AAH40179;BAA91095;BAA92571;BAB14280;BAG58471;BAG59435;EAW65969;NP_060239;Q7L622;XP_005267893 Hs.509008;Hs.605081 1653426;1656534;1656536;1699452;1700854;1704170;1772218;1905794;2123233;2171390;2182298 A002A15;D14S1216;G09527;G19845;G35875;REN23702;RH103317;RH104053;RH68913;SHGC-36569;SHGC-79794 FLJ20333;KIAA1333;PHF7B G2/M phase-specific E3 ubiquitin-protein ligase;G2/M-phase specific E3 ubiquitin ligase;OTTHUMP00000178787;OTTHUMP00000243941;OTTHUMP00000244055;PHD finger protein 7B APPROVED protein-coding ENSG00000092140 HGNC:20338 13851 611299 VALIDATED 1348449 G6PT2 glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2 9598717 2544 HGNC:4062 735418 G6PC3 glucose 6 phosphatase, catalytic, 3 This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Multiple transcript variants have been found for this gene, only one of which is expected to express a protein.[provided by RefSeq, Sep 2009] 17 17 17 q21.31 38856193 38861806 + 42148098 42153712 + 44070730 44076344 + 737633;1302399;2302851;2302970;2302850;6480464;7240710;8554872;8699517 11440903;12370122;12477932;4303362;4353083 12965222;16341674;18337100;19118303;19946888;20220065;20498302;20616219;20717171;20799326;21048031;21206270;21264919;21385794;21677667;21891829;22050868;22469094;23180359;23298686;23454784;23758768;24105461;24244560;24322501 92579 K7EJC5;K7ENK1;K7EQ13;K7ESE6;Q9BUM1 ABBA01028388;AC023855;AMYH02033469;BC002494;BC021574;BC062596;BM790097;CH471178;DB460416;NG_015818;NM_138387;NR_028581;NR_028582;XM_006722179 AAH02494;AAH21574;EAW51636;EAW51637;EAW51638;NP_612396;Q9BUM1;XP_006722242 Hs.294005 2127527 WI-17645 SCN4;UGRP G-6-Pase 3;G6Pase 3;G6Pase-beta;glucose-6-phosphatase 3;glucose-6-phosphatase catalytic subunit 3;ubiquitous glucose-6-phosphatase catalytic subunit-related protein;ubiquitously expressed G6Pase catalytic subunit-related protein APPROVED protein-coding ENSG00000141349 HGNC:24861 13556 611045;612541 REVIEWED 1352161 G6PT3 glucose-6-phosphatase, transport (glucose) protein 3 2545 HGNC:4063 1353103 G7P1 kinase-like protein 2546 HGNC:4064 148750 1347726 G6PR glucose-6-phosphatase regulator 2541 HGNC:4059 1318646 FZR1 fizzy/cell division cycle 20 related 1 (Drosophila) INVOLVED IN activation of anaphase-promoting complex activity; anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein catabolic process; PARTICIPATES IN cell cycle pathway, mitotic; ubiquitin/proteasome degradation pathway; FOUND IN anaphase-promoting complex; nuclear membrane; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 19 19 19 p13.3 3443104 3473565 + 3506261 3536755 + 3506263 3536757 + 6480464;6907045 10500174;10548110;10574462;10793135;11003657;11340163;11459825;11459826;11562349;11598127;11691834;11751633;11931757;11988738;12097298;12198152;12477932;12560341;12791267;12797865;12956947;14701726;15014502;15014503;15029244;15057824;15144564;15469984;15489334;15916961;15923616;16169070;16287863;16921029;17001306;17130831;17187060;17207965;17215516;17227951;17283060;17339342;17403670;17609108;17632060;17719540;17942546;18029348;18162579;18174259;18212744;18321983;18372912;18381934;18485873;18573889;18662541;19477924;19483727;19686743;19822757;19861496;20064487;20360068;20383333;20395298;20508983;20530197;20581839;20663873;20802534;20921411;20937767;20966048;21135578;21139048;21186356;21212736;21241890;21439932;21596315;21890473;21903591;21906983;21937719;21963094;21986944;22014574;22529100;22580460;22580462;22654103;22949615;22990118;23029325;23029392;23042605;23078409;23091007;23226367;23239745;23263983;23613471;23643811;23670162;23696789;23707760;23708001;23708605;23776205;23972993;23979597;24163370;24250222;24362530;24906885;24930963;25043029;9637688;9734353;9811605 51343 K7EQT1;Q9UM11 AB013462;AB013463;AB033068;ABBA01002827;ABBA01002828;AC005786;AC005787;AF080397;AF083810;AF102507;AF102508;AF433157;AMYH02035256;AMYH02035257;BC013413;BC111760;BT007115;CH471139;DB462260;NM_001136197;NM_001136198;NM_016263;XM_005259573;XM_006722764 AAC62835;AAC62836;AAD26623;AAD26624;AAD52030;AAF20266;AAH13413;AAL28117;AAP35779;ABM81665;ADQ32810;BAA86556;BAA86954;BAA86955;EAW69313;EAW69314;EAW69315;NP_001129669;NP_001129670;NP_057347;Q9UM11;XP_005259630;XP_006722827 Hs.413133 CDC20C;CDH1;FZR;FZR2;HCDH;HCDH1;KIAA1242 CDC20-like 1b;CDC20-like protein 1;cdh1/Hct1 homolog;fizzy-related protein homolog protein-coding HGNC:24824 04687 603619 VALIDATED 736474 G6PD glucose-6-phosphate dehydrogenase This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q28 153920654 153936836 - 153759606 153775796 - 154531390 154547586 - 1599574;704404;1599812;1300048;1580863;1625539;2307345;2307350;2307352;2307353;2307337;2307347;2307348;2307349;2307340;2307361;6480464;6907045;7240710;8699517;8554872 12853069;15466941;15914531;15923630;16718375;17250641;18501200;18802767;19230846;19374165;19374864;1999409;2843500 10087986;10089300;10627140;10698963;10745013;11024211;11042039;11112389;11237690;11256614;11440553;11499668;11793482;11852882;11857737;11874436;11876979;11877026;11920200;12027950;12130518;12135480;12378426;12380870;12439228;12477932;12497642;12524354;12588050;12616531;12641410;12665801;12680285;12696079;12737938;12737940;12737943;12768444;12850494;12921788;12972027;1303180;1303182;14614139;14757424;14757426;15223006;15282679;15307413;15315792;15330559;1536798;15466166;15476167;15489334;15506519;15558953;15592455;15598086;15622766;15659240;15718915;15727905;15748456;15766741;15772651;15858258;15864125;15906717;15906719;15951569;15957246;16020776;16059744;16088936;1611091;16136268;16137669;16143877;16155737;16236267;16255851;16272653;16331553;16335966;16356170;16461316;16483869;16532971;16569302;16607506;16637741;16792831;16859949;16927025;16934959;16944148;17007653;17018380;17077204;17264545;17361089;17499234;17516514;17524386;17557555;17587269;17611006;17623298;17637841;17653668;17660836;17877203;17959407;18029348;18043863;18046504;18056001;18066402;18086567;18164966;18173836;18215251;18226470;18302154;18376107;18458302;18493020;18494377;18558634;18660489;18677765;1874446;18781797;1889820;18985093;19056867;19219640;19223928;19224086;19272180;19317913;19323016;19336475;19359662;19419973;19422023;1945893;19465117;19497363;19589177;19594365;19632868;19640310;19738201;19811411;19858149;19896395;19913121;19941843;19946888;19996424;20007901;20017397;20032314;20113600;20118060;20200584;20203002;20236109;20447239;20459687;20507315;20514852;20520804;20528626;20582980;20602793;20621077;20628086;20684792;20713184;20927393;20949590;21125776;21139048;21157431;21180140;21205543;21302115;21376116;21376267;21397531;21507164;21507207;21549219;21853274;21890473;21906983;21963094;21987572;22012600;22117603;22139979;22165289;22307442;22364808;22431005;22505724;22537951;22552160;22768742;22770933;22848499;22863883;22906047;22906837;22939629;22958163;22963789;2297768;23000965;23023104;23065279;23144702;23146719;23166591;23185302;23233666;23275194;23389243;23446634;23485169;23631859;23640907;23693134;23696099;23742107;23824909;23874603;24134566;24146346;2420826;24223971;24270845;2428611;24583282;24615128;24636884;24769394;24805191;24816145;25027693;2758468;2836867;2910917;2912069;3012556;3126064;3393536;3446582;3515319;5643703;5666113;6696761;743300;7825590;7857286;7858267;7959695;8193373;8356804;8364584;8466644;8490627;8533762;8733135;8826878;9233561 2539 E7EM57;E7EUI8;E9PD92;P11413 ABBA01045263;ABBA01045264;ABBA01045265;AC244090;AF277315;AK292304;AK302341;AL560686;AY158096;AY158097;AY158098;AY158099;AY158100;AY158101;AY158102;AY158103;AY158104;AY158105;AY158106;AY158107;AY158108;AY158109;AY158110;AY158111;AY158112;AY158113;AY158114;AY158115;AY158116;AY158117;AY158118;AY158119;AY158120;AY158121;AY158122;AY158123;AY158124;AY158125;AY158126;AY158127;AY158128;AY158129;AY158130;AY158131;AY158132;AY158133;AY158134;AY158135;AY158136;AY158137;AY158138;AY158139;AY158140;AY158141;AY158142;BC000337;BU589629;CH471172;DC394789;DQ173568;DQ173592;DQ173593;DQ173594;DQ173595;DQ173596;DQ173597;DQ173598;DQ173599;DQ173600;DQ173601;DQ173602;DQ173603;DQ173604;DQ173605;DQ173606;DQ173607;DQ173608;DQ173609;DQ173610;DQ173611;DQ173612;DQ173613;DQ173614;DQ173615;DQ173616;DQ173617;DQ173618;DQ173619;DQ173620;DQ173621;DQ173622;DQ173623;DQ173624;DQ173625;DQ173626;DQ173627;DQ173628;DQ173629;DQ173630;DQ173631;DQ173632;DQ173633;DQ173634;DQ173635;DQ173636;DQ173637;DQ173638;DQ173639;DQ173640;DQ173641;DQ173642;DQ832766;FB718764;FB719134;HB869941;HC892663;HC895939;HC898862;HC899672;HC903214;HC908383;HC915319;HC927350;L44140;M19866;M21248;M23423;M27940;M65234;NG_009015;NM_000402;NM_001042351;S58359;S64462;X03674;X53815;X55448;XM_005274657;XM_005274658 AAA52500;AAA52501;AAA52504;AAA63175;AAA92653;AAB20299;AAB26169;AAB59390;AAH00337;AAL27011;AAN76367;AAN76368;AAN76369;AAN76370;AAN76371;AAN76372;AAN76373;AAN76374;AAN76375;AAN76376;AAN76377;AAN76378;AAN76379;AAN76380;AAN76381;AAN76382;AAN76383;AAN76384;AAN76385;AAN76386;AAN76387;AAN76388;AAN76389;AAN76390;AAN76391;AAN76392;AAN76393;AAN76394;AAN76395;AAN76396;AAN76397;AAN76398;AAN76399;AAN76400;AAN76401;AAN76402;AAN76403;AAN76404;AAN76405;AAN76406;AAN76407;AAN76408;AAN76409;AAN76410;AAN76411;AAN76412;AAN76413;ABB90566;ABC25732;ABC25737;ABC25742;ABC25747;ABC25752;ABC25757;ABC25761;ABC25766;ABC25771;ABC25776;ABC25781;ABC25786;ABC25791;ABC25796;ABC25801;ABC25806;ABC25811;ABC25816;ABC25821;ABC25826;ABC25831;ABC25836;ABC25841;ABC25846;ABC25851;ABC25856;ABC25861;ABC25866;ABC25871;ABC25876;ABC25881;ABC25886;ABC25891;ABC25896;ABC25901;ABC25906;ABC25911;ABC25916;ABC25921;ABC25926;ABC25931;ABC25936;ABC25941;ABC25946;ABC25951;ABC25956;ABC25961;ABC25966;ABC25971;ABC25976;ABC25981;ABH03569;ABM83145;ABM86341;BAF84993;BAG63669;CAA27309;CAA37811;CAA39089;CAS91929;CAS92163;CBF59097;CBN60799;CBN62406;CBN63835;CBN64257;CBN66061;CBN68546;CBN71894;CBU84341;EAW72682;EAW72683;EAW72684;EAW72685;EAW72686;EAW72687;NP_000393;NP_001035810;P11413;XP_005274714;XP_005274715 Hs.461047;Hs.684904 1702240;1740925;1740927;1741735;1744547;1748051;1748053;1748069;1795078;1807554;1809078;1810762;1811792;1812094;1812576;1812932;1817286;1817988;1818490;1819510;1822790;1830532;1832248;1838318;1840956;1843212;1844316;2037848;2037850;2037852;2037854;2037856;2037858;2037860;2037862;2037864;2037866;2037868;2037870;2037872;2037874;2037876;2037878;2037880;2037882;2037884;2037886;2037888;2037890;2037892;2037894;2037896;2037898;2037900;2037902;2037904;2037906;2037908;2037910;2037912;2037914;2037916;2037918;2037920;2037922;2037924;2037926;2037928;2037930;2037932;2037934;2037936;2037938;2037940;2037942;2037944;2037946;2037948;2037950;2037952;2037954;2037956;2037958;2037960;2037962;2037964;2037966;2037968;2037970;2037972;2037974;2037976;2037978;2037980;2037982;2037984;2102626;2102628;2102630;2102632;2102634;2102636;2102638;2102640;2102642;2102644;2102646;2102648;2102650;5119541;5119833 ECD04749;ECD05526;ECD06379;ECD06900;ECD07052;ECD07298;ECD07480;ECD09693;ECD10049;ECD10306;ECD10822;ECD12483;ECD16402;ECD17262;ECD20333;ECD21671;ECD22814;ECD23372;G65806;G65807;G65810;GDB:176313;GDB:176314;GDB:177106;GDB:182509;GDB:182510;GDB:452834;GDB:512991;PMC97176P1;REN89938;REN89939;REN89940;REN89941;REN89942;REN89943;REN89944;REN89945;REN89946;REN89947;REN89948;REN89949;REN89950;REN89951;REN89952;REN89953;REN89954;REN89955;REN89956;REN89957;REN89958;REN89959;REN89960;REN89961;REN89962;REN89963;REN89964;REN89965;REN89966;REN89967;REN89968;REN89969;REN89970;REN89971;REN89972;REN89973;REN89974;REN89975;REN89976;REN89977;REN89978;REN89979;REN89980;REN89981;REN89982;REN89983;REN89984;REN89985;REN89986;REN89987;REN89988;REN89989;REN89990;REN89991;REN89992;REN89993;REN89994;REN89995;REN89996;REN89997;REN89998;REN89999;REN90000;REN90001;REN90002;REN90003;REN90004;REN90005;REN90006;stSG604119;stSG604120;stSG604121;stSG604122;stSG604123;stSG604124;stSG604125;stSG604126;stSG604127;stSG604128;stSG604129;stSG604130;stSG604131 G6PD1 OTTHUMP00000026034;OTTHUMP00000026039;OTTHUMP00000196180;glucose-6-phosphate 1-dehydrogenase;glucose-6-phosphate dehydrogenase, G6PD APPROVED protein-coding ENSG00000160211 HGNC:4057 02377 134700;300908;305900;611162 REVIEWED 1350229 GAB4 GRB2-associated binding protein family, member 4 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog); 3-methylcholanthrene (ortholog) 22 22 22 q11.1 1065098 1111384 - 17442826 17489112 - 16961936 17008222 - 6480464;8554872 14702039;19240061;24816145 128954 H0YB31;Q2WGN9 AB076978;ABBA01001460;AC006548;AK057252;AMYH02037984;CH471193;HC044765;NM_001037814 BAD06454;CBH30712;EAW57735;NP_001032903;Q2WGN9 Hs.434113 GAB2-like;GRB2-associated binder 2-like protein;GRB2-associated binder 4;GRB2-associated-binding protein 2-like;GRB2-associated-binding protein 4;OTTHUMP00000195887;growth factor receptor bound protein 2-associated protein 4 protein-coding ENSG00000215568 HGNC:18325 PROVISIONAL 1353554 GAB3 GRB2-associated binding protein 3 This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X q28 154061594 154137916 - 153903526 153979855 - 154675249 154751583 - 6480464;8554872 11739737;11943184;11997510;12640125;12773374;16344560;16386802;17567994;18235045;19430480;19913121;20237496;20467438;20628086;22163099;23431498 139716 H7C3J9;Q8WWW8 AA808085;ABBA01029068;ABBA01029069;ABBA01029070;ABBA01029071;ABBA01029072;ABBA01029073;ABBA01029074;ABBA01029075;ABBA01029076;AC107450;AC109993;AC244107;AI799102;AK126283;AK307927;AL832051;AMYH02040854;AY057989;BQ574803;CH471172;CN481476;DB065120;DQ656063;HY029412;NG_012834;NM_001081573;NM_001282283;NM_080612;NR_104114;XM_005274648;XM_005274649;XM_006724804;XM_006724805;XM_006724806 AAI41540;AAL25825;BAG54302;EAW72664;EAW72665;EAW72666;EAW72667;NP_001075042;NP_001269212;NP_542179;Q8WWW8;XP_005274705;XP_005274706;XP_006724867;XP_006724868;XP_006724869 Hs.496982 1684644;1689270;1689915;1787302;1797552;1799310;1799524;1801256;1804766;1804824;1806332;1806512;1807022;1807154;1808512;1810828;1811620;1812240;1812578;1813384;1814136;1815156;1818428;1818430;1818934;1820714;1821054;1822712;1824952;1825598;1826074;1826776;1827876;1827976;1828364;1828440;1828872;1829614;1829616;1834980;1835140;1835566;1836406;1837560;1837998;1840204;1841566;1841762;1842390;1843042;1843272;1843588;1844032;1844318;1846024;2038384;2038386;2038388;2038390;2038392;2038394;2038396;2038398;2038400;2038402;2038404;2038406;2038408;2038410;2038412;2038414;2038416;2038418;2038420;2038422;2038424;2038426;2038428;2038430;2038432;2038434;2038436;2038438;2038440;2038442;2038444;2038446;2038448;2038450;2038452;2038454;2038456;2038458;2038460;2038462;2038464;2038466;2038468;2038470;2038472;2038474;2038476;2038478;2038480;2038482;2038484;2038486;2038488;2038490;2038492;2038494;2038496;2038498;2038500;2038502;2038504;2038506;2038508;2038510;2038512;2038514;2038516;2038518;2038520;2038522;2038524;2038526;2038528;2038530;2038532;2038534;2038536;2038538;2038540;2038542;2038544;2038546;2038548;2038550;2038552;2038554;2038556;2038558;2038560;2038562;2038564;2038566;2038568;2038570;2038572;2038574;2038576;2038578;2038580;2038582;2038584;2038586;2038588;2038590;2038592;2038594;2038596;2038598;2038600;2038602;2038604;2038606;2038608;2038610;2038612;2038614;2038616;2038618;2038620;2038622;2038624;2038626;2038628;2038630;2038632;2038634;2038636;2038638;2038640;2038642;2038644;2038646;2038648;2038650;2038652;2038654;2038656;2038658;2038660;2038662;2038664;2038666;2038668;2038670;2038672;2038674;2038676;2038678;2038680;2038682;2038684;2038686;2038688;2038690;2038692;2038694;2038696;2038698;2038700;2038702;2038704;2038706;2038708;2038710;2038712;2038714;2038716;2038718;2038720;2038722;2038724;2038726;2038728;2038730;2038732;2038734;2038736;2038738;2038740;2038742;2038744;2038746;2038748;2038750;2038752;2038754;2038756;2038758;2038760;2038762;2038764;2038766;2038768;2038770;2038772;2038774;2038776;2038778;2038780;2038782;2038784;2038786;2038788;2038790;2038792;2038794;2038796;2038798;2038800;2038802;2038804;2038806;2038808;2038810;2038812;2038814;2038816;2038818;2038820;2038822;2038824;2038826;2038828;2038830;2038832;2038834;2038836;2038838;2038840;2038842;2038844;2038846;2038848;2038850;2038852;2038854;2038856;2038858;2038860;2038862;2038864;2038866;2038868;2038870;2038872;2038874;2038876;2038878;2038880;2038882;2038884;2038886;2038888;2038890;2038892;2038894;2038896;2038898;2038900;2038902;2038904;2038906;2038908;2038910;2038912;2038914;2038916;2038918;2038920;2038922;2038924;2038926;2038928;2038930;2038932;2038934;2038936;2038938;2038940;2038942;2038944;2038946;2038948;2038950;2038952;2038954;2038956;2038958;2038960;2038962;2038964;2038966;2038968;2038970;2038972;2038974;2038976;2038978;2038980;2038982;2038984;2038986;2038988;2038990;2038992;2038994;2038996;2038998;2039000;2039002;2039004;2039006;2039008;2039010;2039012;2039014;2039016;2039018;2039020;2039022;2039024;2039026;2039028;2039030;2039032;2102794;2102796;2102798;2102800;2102802;2102804;2102806;2102808;2102810;2102812;2102814;2102816;2102818;2102820;2102822;2102824;2102826;2102828;2102830;2102832;2102834;2102836;2102838;2102840;2102842;2102844;2102846;2102848;2102850;2102852;2102854;2102856;2102858;2102860;2102862;2102864;2102866;2102868;2102870;2102872;2102874;2102876;2170875 ECD00503;ECD00614;ECD01500;ECD03315;ECD03346;ECD04121;ECD04213;ECD04476;ECD04543;ECD05238;ECD06412;ECD06813;ECD07127;ECD07299;ECD07713;ECD08097;ECD08612;ECD10273;ECD10274;ECD10531;ECD11432;ECD11604;ECD12444;ECD13575;ECD13907;ECD14146;ECD14503;ECD15061;ECD15111;ECD15308;ECD15346;ECD15563;ECD15938;ECD15939;ECD18641;ECD18725;ECD18939;ECD19365;ECD19947;ECD20170;ECD21286;ECD21980;ECD22080;ECD22398;ECD22729;ECD22844;ECD23004;ECD23229;ECD23373;ECD24232;GAB3_1528;REN90211;REN90212;REN90213;REN90214;REN90215;REN90216;REN90217;REN90218;REN90219;REN90220;REN90221;REN90222;REN90223;REN90224;REN90225;REN90226;REN90227;REN90228;REN90229;REN90230;REN90231;REN90232;REN90233;REN90234;REN90235;REN90236;REN90237;REN90238;REN90239;REN90240;REN90241;REN90242;REN90243;REN90244;REN90245;REN90246;REN90247;REN90248;REN90249;REN90250;REN90251;REN90252;REN90253;REN90254;REN90255;REN90256;REN90257;REN90258;REN90259;REN90260;REN90261;REN90262;REN90263;REN90264;REN90265;REN90266;REN90267;REN90268;REN90269;REN90271;REN90272;REN90273;REN90274;REN90275;REN90276;REN90277;REN90278;REN90279;REN90280;REN90281;REN90282;REN90283;REN90284;REN90285;REN90286;REN90287;REN90288;REN90289;REN90290;REN90291;REN90292;REN90293;REN90294;REN90295;REN90296;REN90297;REN90298;REN90299;REN90300;REN90301;REN90302;REN90303;REN90304;REN90305;REN90306;REN90307;REN90308;REN90309;REN90310;REN90311;REN90312;REN90313;REN90314;REN90315;REN90316;REN90317;REN90318;REN90319;REN90320;REN90321;REN90322;REN90323;REN90324;REN90325;REN90326;REN90327;REN90328;REN90329;REN90330;REN90331;REN90332;REN90333;REN90334;REN90335;REN90336;REN90337;REN90338;REN90339;REN90340;REN90341;REN90342;REN90343;REN90344;REN90345;REN90346;REN90347;REN90348;REN90349;REN90350;REN90351;REN90352;REN90353;REN90354;REN90355;REN90356;REN90357;REN90358;REN90359;REN90360;REN90361;REN90362;REN90363;REN90364;REN90365;REN90366;REN90367;REN90368;REN90369;REN90370;REN90371;REN90372;REN90373;REN90374;REN90375;REN90376;REN90377;REN90378;REN90379;REN90380;REN90381;REN90382;REN90383;REN90384;REN90385;REN90386;REN90387;REN90388;REN90389;REN90390;REN90391;REN90392;REN90393;REN90394;REN90395;REN90396;REN90397;REN90398;REN90399;REN90400;REN90401;REN90402;REN90403;REN90404;REN90405;REN90406;REN90407;REN90408;REN90409;REN90410;REN90411;REN90412;REN90413;REN90414;REN90415;REN90416;REN90417;REN90418;REN90419;REN90420;REN90421;REN90422;REN90423;REN90424;REN90425;REN90426;REN90427;REN90428;REN90429;REN90430;REN90431;REN90432;REN90433;REN90434;REN90435;REN90436;REN90437;REN90438;REN90439;REN90440;REN90441;REN90442;REN90443;REN90444;REN90445;REN90446;REN90447;REN90448;REN90449;REN90450;REN90451;REN90452;REN90453;REN90454;REN90455;REN90456;REN90457;REN90458;REN90459;REN90460;REN90461;REN90462;REN90463;REN90464;REN90465;REN90466;REN90467;REN90468;REN90469;REN90470;REN90471;REN90472;REN90473;REN90474;REN90475;REN90476;REN90477;REN90478;REN90479;REN90480;REN90481;REN90482;REN90483;REN90484;REN90485;REN90486;REN90487;REN90488;REN90489;REN90491;REN90492;REN90493;REN90494;REN90495;REN90496;REN90497;REN90498;REN90499;REN90500;REN90501;REN90502;REN90503;REN90504;REN90505;REN90506;REN90507;REN90508;REN90509;REN90510;REN90511;REN90512;REN90513;REN90514;REN90515;REN90516;REN90517;REN90518;REN90519;REN90520;REN90521;REN90522;REN90523;REN90524;REN90525;REN90526;REN90527;REN90528;REN90529;REN90530;REN90531;REN90532;REN90533;REN90534;REN90535;REN90536;REN90537;RH69764;RH80376;RH80611;RH99020;SHGC-149514;stSG604223;stSG604224;stSG604225;stSG604226;stSG604228;stSG604229;stSG604230;stSG604231;stSG604232;stSG604233;stSG604234;stSG604235;stSG604236;stSG604237;stSG604238;stSG604240;stSG604241;stSG604242;stSG604243;stSG604244;stSG604245;stSG604246;stSG604247;stSG604248;stSG604249;stSG604250;stSG604251;stSG604252;stSG604253;stSG604254;stSG604255;stSG604256;stSG604257;stSG604258;stSG604259;stSG604260;stSG604261;stSG604262;stSG604263;stSG604264;stSG604265;stSG604267 DOS/Gab family member 3;GRB2-associated binder 3;GRB2-associated-binding protein 3;Gab3 scaffolding protein;OTTHUMP00000026055;OTTHUMP00000026056;OTTHUMP00000225955;growth factor receptor bound protein 2-associated protein 3 APPROVED protein-coding ENSG00000160219 HGNC:17515 06571 300482 REVIEWED 1354441 GABARAPL3 GABA(A) receptors associated protein like 3, pseudogene INVOLVED IN autophagy (inferred); FOUND IN cytoplasmic vesicle (inferred); membrane (inferred); microtubule (inferred); INTERACTS WITH 1,4-phenylenediamine; 5-aza-2'-deoxycytidine; 5-azacytidine 15 15 15 q26.1 67294098 67297018 - 90889759 90892679 - 90346527 90349447 - 1300523;1580863;6480464 11414770 22446963 23766 Q9BY60 ABBA01053054;AC018946;AF180519;AMYH02031040;CH471101;NR_028287 AAK16237;EAX02101;Q9BY60 Hs.592014 2154937 D12S1916 ATG8D APPROVED pseudo HGNC:4069 VALIDATED 1353184 GAA glucosidase, alpha; acid This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25.2-q25.3 74704156 74722487 + 78075339 78093680 + 80101541 80119881 + 1580863;6480464;6907045;7240710;8554872;8699517 10189220;10206684;10338092;10737124;10931430;11027569;11071489;11530211;11738358;11752220;11854868;11973631;12065598;12477932;12560567;12601120;12719582;12754519;12923862;14695532;15145338;15313146;15489334;15520017;15668445;15993875;16052631;16335952;16433701;1652892;16547752;16782080;1678778;1684505;16917947;1704656;17056254;17092519;17210890;17213836;17293352;1736542;17592248;17616415;17897319;17915575;18215327;18285536;18301443;18314154;18330979;18425781;18429042;18458862;1856189;18607768;18757064;1898413;19056867;19343043;19362502;19609281;19834502;19913121;19946888;20080426;20301438;20350966;20628086;2076345;21039225;2111708;21139048;2136376;21484825;2187500;21982629;21988832;2203258;22268729;22644586;22658377;2268276;2283726;22939629;23000108;2355006;23884227;24107549;24150945;24158270;24250222;24384324;24399866;24654937;24816145;2541446;2542563;2649653;2825177;2829950;2959866;3049072;3099781;3264072;7603530;7695647;7717400;7866409;7881422;7881425;7945303;7981676;8093218;8094613;8218172;8401535;8416962;8435067;8486380;8558570;8673525;8786092;8794361;8794362;8834250;8912788;8935410;9109416;9505277;9521422;9535769;9554747;9660056 2548 I3L0S5;I3L2V9;I3L3L3;P10253 ABBA01015410;ABBA01015411;AC087741;AK299462;AMYH02034099;AW515241;BC015908;BC040431;BQ711289;CH471099;DQ907243;M34424;M34425;NG_009822;NM_000152;NM_001079803;NM_001079804;S76893;X55079;X55080;XM_005257193;XM_005257194;Y00839 AAA52506;AAB33842;AAH40431;ABI53718;BAH13042;CAA68763;CAA68764;CAC12967;EAW89581;EAW89582;EAW89583;NP_000143;NP_001073271;NP_001073272;P10253;XP_005257250;XP_005257251 Hs.1437 1675606;1682884;1684991;1741207;2169055;2178428;5119719 G07071;GDB:178578;GDB:180941;GDB:371877;RH79901;RH92754;RH98689 LYAG acid maltase;aglucosidase alfa;lysosomal alpha-glucosidase APPROVED protein-coding ENSG00000171298 HGNC:4065 06006 232300;606800 REVIEWED 736805 GABARAP GABA(A) receptor-associated protein Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7168385 7170397 - 7143738 7145753 - 7240419 7242434 - 1580863;1643329;4890444;6480464;6907045;8554872 15325588;20562859 10856287;10899939;10900017;10931946;10984509;11042152;11096062;11146101;11414770;11461150;11727985;11727986;11729197;11779480;11825910;11875056;11885988;11890701;11948245;11979730;11997026;12367594;12477932;12507496;14625090;15169837;15695379;15977068;16169070;16303767;16339017;16874098;17164261;17353931;17581966;18638487;18976975;19056683;19154346;19250911;19363302;19533740;20010802;20111057;20639871;20665069;20706999;20820800;21139048;21376781;21383079;21617041;21684337;21890473;22505724;22939629;22948227;23043107;23209807;23545901;23602568;23721406;24100292;24240096;24582747;24816145;24879152;25015289;9892355 11337 H6UMI1;I3L236;I3L3J4;O95166;Q6IAW1 AB030711;ABBA01054856;AC120057;AF044671;AF067171;AF161586;AF183425;AK098634;AK312205;AMYH02032896;BC106748;BC106749;CH471108;CR457043;CR542235;JN663880;NM_007278;U65413 AAD02337;AAD32455;AAD47641;AAG09694;AAI06749;AAI06750;AEZ06293;BAB21549;BAG35138;CAG33324;CAG47031;EAW90234;EAW90238;NP_009209;O95166 Hs.647421 1678137;1687976;1725687 G62047;RH26918;RH79691 ATG8A;FLJ25768;GABARAP-a;MGC120154;MGC120155;MM46 OTTHUMP00000128350;gamma-aminobutyric acid receptor associated protein;gamma-aminobutyric acid receptor-associated protein APPROVED protein-coding HGNC:4067 05496 605125 REVIEWED 737428 GAB2 GRB2-associated binding protein 2 This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009] 11 11 11 q14.1 75234820 75437334 - 77926336 78128868 - 78215290 78417822 - 704404;6480464;6484113;6907045;8554872 10068651;10391903;10455108;10704825;10752981;10871282;10913131;11287610;11334882;11402314;11466412;11572860;11701952;11782427;11812650;11830491;11882361;11895767;11971018;11997510;12008033;12135708;12140767;12176364;12477932;12522270;12819203;14530346;14687710;14982882;15010462;15143164;15170389;15356145;15574337;15750601;15952937;16135792;16219545;16253990;16344560;16368877;16369543;16736498;17553421;17998934;18235045;18272374;18314909;18644434;18697750;18853460;18854865;19118819;19172738;19204163;19233262;19262956;19276544;19342374;19380743;19509136;19523899;19608861;19641626;19838208;19881546;19909739;19913121;19924507;20087860;20188796;20237496;20413850;20534741;20574532;20628086;20634593;20697350;20888920;20936779;21102462;21108942;21118992;21285854;21552417;21653832;21706016;21996746;22851227;22856364;22859374;22883624;22926523;23231021;23401857;23525328;23724096;24161894;24327320;24385586;24816145;9628581 9846 E9PJ26;E9PJE2;Q9UQC2 AA865573;AB011143;AB018413;ABBA01017404;ABBA01017405;ABBA01017406;ABBA01017407;AI858080;AMYH02025147;AMYH02025148;AMYH02025149;AMYH02025150;AMYH02025151;AP002985;AP003086;BC131711;BC152459;BY799914;CH471076;DA674753;DB636423;NG_016171;NM_012296;NM_080491;XM_006718753;XR_428935 AAI31712;AAI52460;BAA25497;BAA76737;EAW75057;EAW75058;NP_036428;NP_536739;Q9UQC2;XP_006718816 Hs.429434 1645185;1659150;1662839;1670272;1686272;1719911;1721039;1729948;1737855;1762193;2145625;2183796 D11S1067;D11S3459;D16S399;G59501;L02008;RH123649;RH36097;RH92579;SHGC-146074;STS-T71628;WI-15100;WI-17046 KIAA0571;pp100 GRB2-associated-binding protein 2;Grb2-associated binder 2;OTTHUMP00000234012;OTTHUMP00000234013;growth factor receptor bound protein 2-associated protein 2 1643405 BMD9_H APPROVED protein-coding ENSG00000033327 HGNC:14458 05866 606203 REVIEWED 1322354 GAB1 GRB2-associated binding protein 1 The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 4 4 4 q31.21 141587895 141725726 + 144257680 144395718 + 143336527 143474565 + 1642762;2299174;6480464;6484113;6907045;8554872 14685170;18175071 10022866;10068651;10455108;10648629;10734310;10747014;10753869;10871282;10913131;10978177;10995442;11134009;11278704;11314042;11323411;11353842;11360177;11402314;11432805;11507676;11606067;11701952;11707404;11894096;11896055;11940581;11960376;12008033;12065326;12138161;12176364;12370245;12477932;12486104;12522270;12582165;12748184;12766170;12773374;12808090;12819203;12855672;14560030;14660651;14665621;14701753;14702039;14973141;14982882;15010462;15351743;15379552;15489334;15574420;15665327;15815621;15940252;15952937;16344560;16638574;16687399;16787925;16849525;17145761;17178724;17211494;17625596;18003605;18192688;18271526;18577518;19167335;19233262;19380743;19665053;19881549;19913121;20005866;20237496;20467438;20602450;20628086;20677014;20723025;20936779;21282639;21706016;21782801;21804548;22366451;22536782;22751113;22851227;22865653;22883624;22915589;23334917;23612964;23824909;24391994;24787006;24872569;8596638;9045692;9242692;9252406;9356464;9658397;9804835;9878555;9890893;9891995 2549 B7Z3B9;D6RF42;D6RIF8;D6RIS0;H0Y8F4;H0YA71;Q13480;Q9HA84 ABBA01070001;ABBA01070002;ABBA01070003;AC097658;AC104685;AK022142;AK074381;AK289767;AK295684;AK314635;AL049449;AMYH02010234;AMYH02010235;BC030115;BC064848;CH471056;DA109618;DA249555;DQ021880;JA780910;JA780912;NM_002039;NM_207123;U43885;XM_005262881;XM_005262882;XM_006714167;XM_006714168 AAC50380;AAH64848;AAY26398;AAY40964;BAB13970;BAB85065;BAF82456;BAH12155;CCH22599;CCH22600;EAX05072;EAX05073;NP_002030;NP_997006;Q13480;XP_005262938;XP_005262939;XP_006714230;XP_006714231 Hs.618456;Hs.80720 1336019;1665267;1669145;1726765;1774329;1847718;2142262;2153351;2159652;2169519;2174659;2217354;5015959;5109281 D10S2448;D1S1425;D4S2556E;D4S2981;G21559;G62770;GAB1_2841;SHGC-59721;SHGC-59759;SHGC-59824;SHGC-67599;SHGC-67681;STS-R83162;STS-U43885 GRB2-associated binder 1;GRB2-associated-binding protein 1;OTTHUMP00000220213;OTTHUMP00000220262;OTTHUMP00000220263;growth factor receptor bound protein 2-associated protein 1 APPROVED protein-coding ENSG00000109458 HGNC:4066 05116 604439 REVIEWED 735450 GABARAPL2 GABA(A) receptor-associated protein-like 2 ENCODES a protein that exhibits ATPase binding (ortholog); beta-tubulin binding (ortholog); GABA receptor binding (ortholog); INVOLVED IN negative regulation of proteasomal protein catabolic process; intra-Golgi vesicle-mediated transport (ortholog); positive regulation of ATPase activity (ortholog); PARTICIPATES IN autophagy pathway; FOUND IN autophagic vacuole; autophagic vacuole membrane; cytoplasm; INTERACTS WITH all-trans-retinoic acid; arsenous acid; cyclosporin A 16 16 16 q22.1 59894551 59906124 + 75600249 75611779 + 75566351 75577881 + 1300523;1643329;4890444;6480464;6907045 11414770;15325588;20562859 10747018;11076863;11096062;11146101;11256614;11825910;11890701;12473658;12477932;12507496;12581858;15169837;15489334;15489336;15604093;16169070;16189514;16303767;16381901;17353931;18187620;18768753;18776740;19056683;19250911;19322201;19533740;19635843;19844255;20010802;20029029;20468064;21139048;21177865;21383079;21460636;21497758;21617041;21669198;21684337;21832049;21890473;21900206;21988832;22354992;22421968;22885598;23043107;23112293;23142642;23891751;24269818;24550385;24582747;24747438;24816145 11345 H3BQ50;H3BSM5;H3BU36;P60520 AB030710;ABBA01017057;AC025287;AF077046;AF087848;AJ010569;AK289788;AK311266;AMYH02032404;BC005985;BC014594;BC029601;BC040312;CH471114;CR542217;NM_007285 AAD27779;AAH05985;AAH14594;AAH29601;AAK20400;ABM84027;ABM87372;BAB21548;BAF82477;CAA09249;CAG47013;CAL38202;EAW95629;EAW95630;NP_009216;P60520 Hs.461379 1649920;1776327;5119486 D1S3415;D20S1078;NIB1153 ATG8;ATG8C;GATE-16;GATE16;GEF-2;GEF2 MAP1 light chain 3 related protein;MAP1 light chain 3-related protein;OTTHUMP00000174953;gaba(a) receptor-associated protein like 2;gamma-aminobutyric acid receptor-associated protein-like 2;ganglioside expression factor 2;general protein transport factor p16;golgi-associated ATPase enhancer of 16 kDa protein-coding ENSG00000034713 HGNC:13291 16246 607452 VALIDATED 731754 GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010] 9 9 9 q22.1-q22.3 71564671 71985374 - 101050364 101471479 - 98288082 98709197 - 1580863;6480464;7240710;8554872 10075644;10087195;10328880;10727622;10773016;11087824;11850456;11854302;12477932;14625043;14961561;14966130;14978362;15164053;15489334;15660124;15822905;16169070;16724110;16829628;17145756;17185339;18482426;18577758;18978678;19002745;19086053;19308021;19336370;19744961;19763258;20379614;20424473;20467438;20557420;20583170;20634891;20734064;21303731;21724853;21971078;22169202;22613715;22660477;23726511;23864651;23996491;24482233;24778228;2834384;7494864;9872316;9872317 9568 H9NIL8;O75899 AB015334;ABBA01042913;ABBA01042914;ABBA01042915;ABBA01042916;AF056085;AF069755;AF074483;AF095784;AF099033;AJ012188;AK308139;AL353782;AL356282;AL445495;AL591502;AMYH02021321;AMYH02021322;AMYH02021323;AMYH02021324;AMYH02021325;AMYH02021326;BC031317;BC035071;BC055425;BX420187;BX452140;CH471105;CS059179;DB474482;JQ308173;NG_016426;NM_005458;XM_005252316 AAC63228;AAC99345;AAD03336;AAD30389;AAD45867;AAH35071;ABM82657;ABM85834;AFF59483;BAA34793;CAA09942;CAI79357;EAW58889;EAW58890;EAW58891;NP_005449;O75899;XP_005252373 Hs.198612 1339050;1646824;1660042;1704126;1762013;1787014;1797638;2114054;2116172;2128507;2146330;2153645;2178988 D9S763;G10723;GPR51;GPR51_2329;RH17868;RH18328;RH18549;RH68438;SHGC-145933;SHGC-149617;SHGC-32035;SHGC-34267;SHGC-79744 FLJ36928;GABA-B-R2;GABA-BR2;GABABR2;GPR51;GPRC3B;HG20;HRIHFB2099;gb2 G protein-coupled receptor 51;G-protein coupled receptor 51;GABA-B receptor 2;GABA-B receptor, R2 subunit;OTTHUMP00000021776;gamma-aminobutyric acid B receptor 2;gamma-aminobutyric acid type B receptor subunit 2 APPROVED protein-coding ENSG00000136928 HGNC:4507 09552 188890;607340 REVIEWED 1317596 GABARAPL1 GABA(A) receptor-associated protein like 1 ENCODES a protein that exhibits beta-tubulin binding (ortholog); GABA receptor binding (ortholog); INVOLVED IN autophagy (inferred); PARTICIPATES IN autophagy pathway; FOUND IN autophagic vacuole; intracellular; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; aflatoxin B1 12 12 12 p13.2 15526610 15536854 + 10365435 10375727 + 10212836 10223128 + 1300523;1580863;4890444;6480464;6907045 11414770;20562859 11076863;11230166;11256614;11374880;12477932;14625090;14702039;15292400;15489334;15489336;15604093;16189514;16381901;16431922;16704426;18296641;18541383;19001416;19250911;19549685;20010802;20197771;20628624;21597319;21617041;21620860;21691068;21890473;21893048;22120110;22354992;22505724;22948227;23043107;23602568;23721406;24747438;24816145;8495796;9892355 23710 F5GX12;F5GYD9;F5GZY7;F5H007;G3V1T7;Q9H0R8 ABBA01067800;ABBA01067801;ABBA01067802;AC115676;AF087847;AF287012;AK056846;AK074195;AK092075;AK124150;AK303581;AK315418;AL136676;AMYH02026025;BC008891;BC009309;BC028315;BX648781;CH471094;CR533480;JN663881;NM_031412;XM_005253344 AAH09309;AAH28315;AAK20399;AAK55962;ABM84029;ABM87374;AEZ06294;BAG37807;BAG64599;CAB66611;CAG38511;CAL38063;CAL38067;EAW96164;EAW96165;EAW96166;EAW96167;EAW96168;EAW96169;EAW96170;NP_113600;Q9H0R8;XP_005253401 Hs.524250 1681199;2154937 D12S1916;RH99039 APG8-LIKE;APG8L;ATG8;ATG8B;ATG8L;GABARAPL1-a;GEC-1;GEC1 GABA(A) receptor-associated protein-like 1;OTTHUMP00000238740;OTTHUMP00000238807;OTTHUMP00000238820;early estrogen-regulated protein;gamma-aminobutyric acid receptor-associated protein-like 1;glandular epithelial cell protein 1 protein-coding ENSG00000139112 HGNC:4068 07601 607420 VALIDATED 6768893 GABPB1-AS1 GABPB1 antisense RNA 1 INTERACTS WITH cisplatin; mercury dichloride 15 15 15 q21.2 27538944 27543082 + 50646371 50650509 + 50354174 50358312 + 6480464 12477932;24036268 100129387 ABBA01039115;AC022087;AMYH02030401;BC004103;BC014238;BX537481;NG_029475;NR_024490 Hs.659360;Hs.720669 1668555;1697408;1707906;5020274;5021872;5022200;5022651;5024272 D11S2921;D2S1254;L18426;L18441;RH102204;SHGC-57070;SHGC-82203;sY3084 APPROVED ncrna HGNC:44157 VALIDATED 1321019 GABPB1 GA binding protein transcription factor, beta subunit 1 This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q21.2 27461979 27540178 - 50569389 50647605 - 50277192 50355408 - 6480464 10585419;10675337;11953439;12016589;12477932;16189514;16344560;16412436;16713569;17357964;17726090;18020712;18029348;18343819;18660489;18976975;19060904;20028934;21076620;21609478;22053931;22939629;23684612;23856623;24250222;24816145;25015289;7737900;7799916;7958862;8383622;8441384;8816484;9016666;9242441;9461436;9792629;9857059 2553 F5H7I4;H0YMZ5;H0YNZ0;H9ZYI9;Q06547 ABBA01039115;ABBA01039116;ABBA01039117;AC022087;AI631183;AK301350;AK303901;AMYH02030399;AMYH02030400;AMYH02030401;BC016910;BC036080;BC050702;BE644609;BQ430343;BQ573816;BT006652;CB960428;CH471082;D13316;D13317;DA156248;DA502761;EU159454;JQ313901;KC877545;NG_029475;NM_002041;NM_005254;NM_016654;NM_016655;NM_181427;U13045;U13046;U13047;U13048;XM_005254273;XM_005254274;XM_006720455;XM_006720456;XM_006720457;XM_006720458 AAA65707;AAA65708;AAA65709;AAA65710;AAH16910;AAH36080;AAH50702;AAP35298;ABM85058;ABV90874;ABZ92036;AFH41796;BAA02573;BAA02574;BAH13462;BAH14078;EAW77388;EAW77389;EAW77390;EAW77391;EAW77392;EAW77393;EAW77394;EAW77395;NP_002032;NP_005245;NP_057738;NP_057739;NP_852092;Q06547;XP_005254330;XP_005254331;XP_006720518;XP_006720519;XP_006720520;XP_006720521 Hs.654350 1654996;1668555;1697408;1707906;1751345;1754029;1855216;2120362;2159171;5114952 D15S1333;D15S1346;G27373;RH102204;RH1640;SHGC-105205;SHGC-132070;SHGC-57070;SHGC-82203;WI-20425 BABPB2;E4TF1;E4TF1-47;E4TF1-53;E4TF1B;GABPB;GABPB2;NRF2B1;NRF2B2 GA binding protein transcription factor beta subunit 1 transcript variant gamma-2;GA-binding protein subunit beta-1;GABP subunit beta-1;GABP subunit beta-2;GABPB-1;GABPB-2;OTTHUMP00000162412;OTTHUMP00000162413;nuclear respiratory factor 2;transcription factor E4TF1-47;transcription factor E4TF1-53 APPROVED protein-coding ENSG00000104064 HGNC:4074 15975 600610 REVIEWED 1605717 GABPAP GA binding protein transcription factor, alpha subunit pseudogene 7 7 7 q11.2 57072286 57077130 + 63353627 63358288 + 63893249 63897910 + 10393246;23459443;7737900;7958862;8125298;8441384 8327 ABBA01027966;AC092634;AF078104;AMYH02015846;NG_007342 1669124;1672810;1688164 D21S1963;RH69339;SHGC-52145 E4TF1;E4TF1B;GABPB1 pseudo HGNC:4072 INFERRED 1321915 GABPA GA binding protein transcription factor, alpha subunit 60kDa This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010] 21 21 21 q21.3 12290744 12328186 + 27107258 27144771 + 25734947 25772460 + 1580863;6480464 10585419;10660899;10675337;10830953;11237613;11953439;12107413;12477932;12750007;15361867;15928042;16574658;16581781;16712791;17161026;17304221;17357964;17439941;18020712;18029348;18378679;18660489;18852034;19116932;19187944;19324871;19409485;19424503;19471022;19687146;19951946;20028934;20127517;21624509;21693764;21774808;21832049;21890473;21906983;21988832;22480519;22505724;22749526;22863883;22939629;23000965;23099293;23284628;23684612;23856623;24076158;24816145;7590737;7737900;7799916;8125298;8441384;8543189;8889548;9016666;9461436;9792629;9857059;9990060 2551 A8IE48;Q06546;Q8IYS3 ABBA01057211;ABBA01057212;AI917898;AK223164;AK313545;AMYH02037649;AP000087;AP000139;AP000226;BC035031;BG542623;BU683067;BX117934;BX647755;CB132898;CD674081;CH471079;CV575645;D13318;EU159453;EU627790;JQ313900;KF457127;KF457128;NM_001197297;NM_002040;U13044;X84366;XM_005260938;XM_005260939 AAA65706;AAH35031;ABV90873;ABZ92005;ACD11490;ACE87836;ACT64371;AFH41795;BAA02575;BAD96884;BAG36321;EAX09967;EAX09968;EAX09969;NP_001184226;NP_002031;Q06546;XP_005260995;XP_005260996 Hs.473470 1669124;1672810;1688164;1730847;1775725;5492084 D21S1963;D21S386;GABPA_8360;RH18000;RH69339;SHGC-52145 E4TF1-60;E4TF1A;NFT2;NRF2;NRF2A;RCH04A07 GA binding protein transcription factor alpha subunit 60kDa;GA-binding protein alpha chain;GABP subunit alpha;OTTHUMP00000096113;OTTHUMP00000096114;human nuclear respiratory factor-2 subunit alpha;nuclear respiratory factor 2 alpha subunit;nuclear respiratory factor 2 subunit alpha;transcription factor E4TF1-60 APPROVED protein-coding ENSG00000154727 HGNC:4071 11793 600609 VALIDATED 1602655 GABPB2 GA binding protein transcription factor, beta subunit 2 ENCODES a protein that exhibits protein heterodimerization activity; transcription regulatory region DNA binding; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; arsenous acid; benzene-1,2,4-triol 1 1 1 q21.3 124158386 124206297 + 151042784 151091007 + 151070311 151118531 + 6480464 11953439;12477932;14702039;18976975;20237496;20379614;20800603;23455924;24816145;7958862;9857059 126626 Q5SZG2;Q8TAK5 ABBA01049368;ABBA01049369;ABBA01049370;ABBA01049371;ABBA01049372;ABBA01049373;ABBA01049374;ABBA01049375;ABBA01049376;ABBA01049377;ABBA01049378;AK092230;AK301882;AK313606;AL590133;AL592424;AL691467;AMYH02001870;AMYH02001871;AMYH02001872;AMYH02001873;BC027033;CH471121;NM_144618;XM_005244880;XM_005244881;XM_005244882;XM_005244883;XM_005244884;XM_005244885;XM_006711151;XM_006711152;XM_006711153 AAH27033;BAC03833;BAG36371;BAG63315;EAW53473;EAW53474;EAW53475;NP_653219;Q8TAK5;XP_005244937;XP_005244938;XP_005244939;XP_005244940;XP_005244941;XP_005244942;XP_006711214;XP_006711215;XP_006711216 Hs.654699 5022200;5037552;5037554 D8S2279;D8S2282;L18426 MGC29891;RP11-68I18.1 GA-binding protein subunit beta-2;GABP subunit beta-2;GABPB-2;OTTHUMP00000014044;OTTHUMP00000014077 protein-coding ENSG00000143458 HGNC:28441 14536 VALIDATED 732437 GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008] X X X q28 151581116 151866622 - 151334706 151619831 - 152166234 152451359 - 1358628;1580863;1358391;6480464;8699517;8554872 11840313;9561979 10602120;11140838;11378843;11528422;11602034;12477932;14751442;15033447;15048654;15489334;16344560;17474147;17970773;18029348;18085588;18334916;18821008;19048400;19058789;19078961;19084931;19086053;19842164;19874574;20351714;20468064;20692323;20843900;21971078;21988832;23169495;23617850;23727119;24055488;2561974;2574000;8175718;8391122;9380754;9655866 2556 P34903 A28102;ABBA01037292;ABBA01037293;ABBA01037294;ABBA01037295;ABBA01037296;ABBA01037297;ABBA01037298;ABBA01037299;ABBA01037300;ABBA01037301;ABBA01037302;ABBA01037303;ABBA01037304;ABBA01037305;ABBA01037306;ABBA01037307;ABBA01037308;ABBA01037309;ABBA01037310;ABBA01037311;ABBA01037312;ABBA01037313;ABBA01037314;ABBA01037315;AC108171;AC116666;AF166361;AF282854;AK312404;AMYH02040787;AMYH02040788;AMYH02040789;AMYH02040790;BC028629;CH471169;DA402645;KF459470;KF459486;KF459487;KF459488;KF459489;KF459490;KF459491;KF459492;KF459493;KF459494;KJ620007;NG_007102;NM_000808;S62908;XM_005274659;XM_006724811 AAB27279;AAG12455;AAH28629;ABM83334;ABM86547;BAG35318;CAA01919;EAW99423;NP_000799;P34903;XP_005274716;XP_006724874 Hs.123024 1701890;1703142;1741317;1758055;1773319;2217356 DXS7073;DXS7358;GABRA3_3360;GDB:452932;RH106545;SHGC-147223 MGC33793 GABA(A) receptor subunit alpha-3;GABA(A) receptor, alpha 3;OTTHUMP00000025897;OTTHUMP00000025898;gamma-aminobutyric acid receptor subunit alpha-3;gamma-animobutyric acid (GABA) A receptor, alpha 3 APPROVED protein-coding ENSG00000011677 HGNC:4077 02375 305660 REVIEWED 1349486 GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 p12 46700624 46841051 - 46246470 46392056 - 46244453 46390039 - 1580863;6480257;6480256;6480464;7240710;8554872 15024690;16080114 10023064;10449790;11528422;12477932;14702039;15033447;15274050;15702134;15834213;15950776;16395124;16557364;16562401;16622805;16894595;17207817;17507911;17655760;17690794;17949392;17976953;18005236;18361719;18482426;18519829;18727688;18781239;18818659;18821008;19078961;19086053;19207358;19229201;19487630;19672139;19736351;19783384;19833324;19842164;19874574;19913121;20048764;20102561;20133874;20202923;20225194;20468064;20583128;20602615;20622020;20628086;20698837;20716301;20843900;21118274;21483437;21683760;21751815;21919924;22047728;22129841;22501025;22555154;22882390;22882391;23480690;23566244;23600744;23974430;24022508;24045508;24136292;24166645;8175718;8391122 2555 D6RAA9;D6RB77;D6RBK9;D6RBL7;D6RCS5;E9PBQ7;G5E9Z6;H0Y9V8;P47869 A28100;AB209295;ABBA01014324;AC093745;AC095060;AC104072;AK125179;AK289662;AK293466;AK307128;AMYH02009151;BC022488;BX108394;CH471069;DB478542;DN991770;NG_012835;NM_000807;NM_001114175;NM_001286827;S62907;XM_005248080;XM_006714002 AAB27278;AAH22488;AAY40994;ADZ15724;BAD92532;BAF82351;BAG54159;BAH11514;CAA01918;EAW93022;EAW93023;EAW93024;EAW93025;NP_000798;NP_001107647;NP_001273756;P47869;XP_005248137;XP_006714065 Hs.116250 1335177;1341902;1663186;1704738;1788676;1795882;2125831;7183257;7184978 D4S3229;D4S396;D4S401;GABRA2_1265;RH106542;SHGC-67786;SHGC-79649 FLJ97076 GABA(A) receptor subunit alpha-2;GABA(A) receptor, alpha 2;OTTHUMP00000125268;OTTHUMP00000125269;OTTHUMP00000218332;OTTHUMP00000218333;OTTHUMP00000219668;OTTHUMP00000219670;gamma-aminobutyric acid receptor subunit alpha-2 APPROVED protein-coding ENSG00000151834 HGNC:4076 11747 103780;137140 REVIEWED 730902 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q34 157305487 157357959 + 161274197 161326965 + 161847191 161899959 + 1580863;704404;6480237;6480464;7240710;8554872;8699517 15929193 10050966;10449790;10512150;11140838;11528422;11992121;12091471;12210273;12225856;12232773;12367595;12367612;12477932;12529644;12574411;12645817;1330891;14569258;14625018;14631097;14706423;14961561;14996540;15016806;15033447;15196679;15201329;15489334;15542698;15955415;16029191;16123039;16172613;16294320;16344560;16412095;16530959;16569738;16627470;16770606;16778401;16792556;16839746;17011586;17360668;17440936;17670950;17880575;17972043;18197653;18292428;18534981;18639864;18723504;18818659;18821008;18922788;19078961;19086053;19219857;19705103;19913121;19944766;20083606;20132297;20356767;20427410;20468064;20551311;20583128;20628086;20692323;20843900;20848605;20940303;21057732;21209255;21343285;21677653;21714819;21729720;21751815;21903587;22038115;22080424;22214903;22243422;22393585;22470130;22563490;22883737;23266428;23308109;23372267;23677991;23756480;23917429;24199598;24623842;2465923;2847710;8125298;8133292;8175718;9655866 2554 A8K177;E5RHL6;E5RJS3;E5RK60;P14867 ABBA01044200;ABBA01044201;AC021079;AC108130;AK223447;AK289792;AK295160;AMYH02012619;AMYH02012620;AV720972;AW148652;BC030696;BM927274;CH471062;DA075784;DA228536;DA232066;DB485936;DB487114;DC307259;DC325179;DC334834;NG_011548;NM_000806;NM_001127643;NM_001127644;NM_001127645;NM_001127648;R60404;S69334;X13584;X14766 AAH30696;ABM81841;BAD97167;BAF82481;BAG58174;CAA31925;CAA32874;EAW61537;EAW61538;EAW61539;NP_000797;NP_001121115;NP_001121116;NP_001121117;NP_001121120;P14867 Hs.175934 1719895;1742165;1797554;2140937;2156254;5115244 D5S1860;GABRA1_2274;L28408;RH106535;RH123641;WI-19171 ECA4;EIEE19;EJM;EJM5 GABA(A) receptor subunit alpha-1;GABA(A) receptor, alpha 1;OTTHUMP00000160870;OTTHUMP00000224392;OTTHUMP00000224393;OTTHUMP00000224394;gamma-aminobutyric acid receptor subunit alpha-1 APPROVED protein-coding ENSG00000022355 HGNC:4075 00662 137160;611136;615744 REVIEWED 734147 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011] 4 4 4 p12 47369879 47444600 - 46920917 46996424 - 46918900 46994407 - 1580863;6480464;6480254;6480253;8554872 16770606;20066485 10414349;10903861;12091471;12242096;12477932;14702039;15028279;16080114;17124266;17135278;18334916;18482426;19078961;19207358;19289452;19736351;19834535;19874574;19913121;20468064;20602615;20628086;21422964;21832049;21988832;22273344;23561058;23937595;24431441;24722188;24778259;7607683;8175718;8719416 2557 D6R924;D6RB66;P48169;X5D7F5 ABBA01014330;ABBA01014331;AC107383;AF238869;AK090780;AMYH02009156;BC035055;BC036474;BC037926;BC042117;BI599812;CD013892;CD013893;CH471069;KJ534840;KJ535037;NG_011809;NM_000809;NM_001204266;NM_001204267;U20166;U30461;XM_006714003 AAA74743;AAB52519;AAH35055;ABM82605;ABM85790;ABW03406;AHW56480;AHW56676;BAG52228;EAW93029;NP_000800;NP_001191195;NP_001191196;P48169;XP_006714066 Hs.248112 1337541;1679618;1726995;1745741;1788678;2163508;5494197 D4S3242;D5Buc33;D5S1969;G62895;GDB:633093;RH106543;SHGC-67811 GABA(A) receptor subunit alpha-4;GABA(A) receptor, alpha 4;OTTHUMP00000125278;gamma-aminobutyric acid A receptor alpha 4;gamma-aminobutyric acid receptor subunit alpha-4 APPROVED protein-coding ENSG00000109158 HGNC:4078 08839 137141 REVIEWED 732651 GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008] 5 5 5 q34 157144516 157161456 + 161112658 161129598 + 161685652 161702592 + 1580863;6480464;8554872 10023064;11140838;11528422;12079890;12080446;12232773;12477932;14702039;14744464;15196679;15197399;15466411;15489334;15542698;16172613;16344560;16402352;16778401;17167337;17295876;17440936;18616664;19078961;19086053;19523047;19598235;19842164;19874574;20100621;20468064;20583128;21041608;21420396;21902679;21930603;23332465;8020978;8175718;8632757 2559 E7EV53;H0YAS3;H0YBP3;H0YBS7;Q16445 ABBA01044201;ABBA01044202;AC091944;AF053072;AK090735;AK289461;AMYH02012617;AMYH02012618;BC096241;BC096242;BC099640;BC099641;CH471062;DA068807;NM_000811;S81944 AAB36480;AAD19830;AAH96241;AAH96242;AAH99640;AAH99641;BAF82150;BAG52222;EAW61542;NP_000802;Q16445 Hs.90791 1788670;2125155 A006O34;RH106536 MGC116903;MGC116904 GABA subunit A receptor alpha 6;GABA(A) receptor subunit alpha-6;GABA(A) receptor, alpha 6;OTTHUMP00000160875;OTTHUMP00000224262;gamma-aminobutyric acid receptor subunit alpha-6 APPROVED protein-coding ENSG00000145863 HGNC:4080 08841 137143 REVIEWED 736048 GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008] 15 15 15 q12 5273203 5355540 + 27111866 27194357 + 26866719 26949210 + 1358630;1358629;1580863;1358391;6480464;6480253;8554872 11840313;20066485;9267853;9514592 11140838;11287792;11378843;12048673;12477932;1321750;1338907;15033447;15489334;15882799;16080114;16344560;16674551;17353214;17370265;17580321;17680603;17957331;19058789;19078961;19086053;19328558;19736351;19913121;20468064;20628086;20692323;20843900;21751815;22546616;24227714;7851879;8388764;9126483;9205108;9668167 2558 AAB22608;G3V296;G3V2G8;G3V2K2;G3V2Q9;G3V2Y5;G3V408;P31644 A28104;ABBA01044310;ABBA01044311;ABBA01048710;ABBA01048711;ABBA01048712;ABBA01048713;AC127511;AC135999;AC136992;AC145167;AC145196;AF061785;AF228447;AF228448;AF228449;AK290453;AK294303;AK303742;AMYH02030114;BC011403;BC111979;BC113422;BT009830;CH471151;DA157081;DB506215;EU606048;L08485;NG_032883;NM_000810;NM_001165037;R49008;XM_005268258;XM_006720459 AAA58490;AAB22608;AAC31809;AAF62508;AAF62509;AAF62510;AAI11980;AAI13423;AAP88832;ABM85193;ABW03702;ADR83173;BAF83142;BAG57584;BAG64714;CAA01920;EAW57656;EAW57657;NP_000801;NP_001158509;P31644;XP_005268315;XP_006720522 Hs.24969 1674719;1797556;2139441 D15S1192;GABRA5_652;STS-L08485 MGC138184 GABA(A) receptor subunit alpha-5;GABA(A) receptor, alpha 5;OTTHUMP00000246892;OTTHUMP00000246893;gamma-aminobutyric acid receptor subunit alpha-5 APPROVED protein-coding ENSG00000186297 HGNC:4079 08840 137142 REVIEWED 735355 GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2 The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008] 5 5 5 q34 156747290 157006998 - 160715426 160975130 - 161288429 161548124 - 1580863;6480464;6480256;8554872 16080114 10023064;10449790;10493732;11085308;11140951;11528422;11854302;12034717;12232773;12435728;12477932;12574411;1321150;1334482;14503638;14625018;14699426;14702039;14966130;15016806;15033447;15198677;15337300;15489334;15542698;16172613;16472798;16627470;16766085;16778401;16950232;17167345;17251430;17370265;17412563;17440936;17520021;18180429;18197653;18334916;18583979;18715757;19056867;19078961;19086053;19367581;19523047;19705103;19763268;19850743;19874574;19909288;20221451;20404824;20468064;20583128;20639197;20692323;20734064;20843900;20848605;20888417;21209255;21420396;21729720;21751815;21806616;22206711;22505724;23121119;23266428;23308109;23617850;23638040;23917429;24250222;7707873;7851879;8175718;8264558;8590827;9153573 2561 B7Z279;E7EV50;P47870 A28108;ABBA01044204;ABBA01044205;ABBA01044206;ABBA01044207;AC008712;AC022120;AC091882;AC091989;AK055125;AK289730;AK289815;AK294437;AK297609;AMYH02012612;AMYH02012613;AMYH02012614;AMYH02012615;BC036592;BC099705;BC099719;BC105639;CH471062;GU086163;KF458046;KF510900;NM_000813;NM_021911;S67368;S77553;S77554 AAB29370;AAB33982;AAB33983;AAH99705;AAH99719;AAI05640;ACY69094;BAF82419;BAF82504;BAH11765;BAH12626;CAA01922;EAW61543;EAW61544;NP_000804;NP_068711;P47870 Hs.303527 1339152;1340623;1709470;1710796;1717091;1724529;1735502;1746853;1780712;1780722;1788682;1797558;2111900;2113810;2114215;2156573;2184972 AB047609;D5S1626E;D5S1848;D5S1955;D5S2118;D5S2514;G64852;GABRB2_1986;RH106547;RH121463;RH122524;SHGC-81786;SHGC-84076;STS-S67368;WIAF-1561;bac51719T;bac51809S MGC119386;MGC119388;MGC119389 GABA(A) receptor subunit beta-2;GABA(A) receptor, beta 2;OTTHUMP00000160871;OTTHUMP00000160872;OTTHUMP00000224259;OTTHUMP00000224260;gamma-aminobutyric acid A receptor beta 2;gamma-aminobutyric acid receptor subunit beta-2 APPROVED protein-coding ENSG00000145864 HGNC:4082 02578 600232 REVIEWED 734108 GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jun 2009] 6 6 6 p21.31 31176094 31207052 - 29570005 29600962 - 29602228 29633185 - 1580863;2315437;2315462;2315492;2315971;6480464;8554872 15153780;18338268;19054408;2849069 10075644;10328880;10402495;10587080;10773016;10906333;11087824;11140838;11178869;11844143;12115687;12130687;12477932;12555235;12601092;12645817;12770685;12923192;14574404;14625043;14643764;14707142;14718537;14759258;14961561;14966130;14978362;15174051;15304491;15309313;15474078;15482257;15489334;15660124;15685626;15759131;15799783;15820424;15857448;15863499;15946333;16169070;16176975;16344560;16499773;16724110;16829628;17185339;17264536;17412563;17474147;17591780;17971048;18098271;18255321;18355961;18403780;18653317;19002745;19052921;19086053;19327013;19664746;19763258;19850743;19851445;20036641;20195357;20378664;20379614;20398908;20468064;20538960;20557420;20655478;20655479;20655480;20655481;20655482;20655483;20655490;21124972;21303731;21621395;21932037;22321358;22412388;22613715;22660477;22722631;23007731;23192081;23391219;24006265;24778228;2834384;7927650;8125298;9069281;9753614;9798068;9844003;9872316;9872744;9889352;9933300 2550 C9J342;C9JZG6;F8WAS6;F8WAV2;F8WDC0;F8WF38;Q5SUJ9;Q8IW08;Q9UBS5 AB065476;AB208790;ABBA01038033;AF099148;AF301005;AJ010170;AJ010171;AJ010172;AJ010173;AJ010174;AJ010175;AJ010176;AJ010177;AJ010178;AJ010179;AJ010180;AJ010181;AJ010182;AJ010183;AJ010184;AJ010185;AJ010186;AJ010187;AJ010188;AJ010189;AJ010190;AJ010191;AJ012185;AJ012186;AJ012187;AJ012288;AJ225028;AJ225029;AK223619;AK290191;AK312308;AL031983;AL645936;AL662826;AMYH02013412;AMYH02013413;AMYH02013414;BC023336;BC041332;BC042598;BC050532;BX000688;BX120002;CH471081;CR388210;CR759766;CR759870;CR788300;CR936483;CS059177;DA112662;DA400111;NG_029101;NM_001470;NM_021903;NM_021904;XM_005248982;XM_005272785;XM_005274841;XM_005274931;XM_005275088;XM_005275227;XM_005275363;XM_006715047;XM_006725030;XM_006725477;XM_006725691;XM_006725807;XM_006725901;XM_006725988;XR_241884;XR_246960;XR_247352;XR_247386;XR_247400;XR_430672;XR_430972;Y11044 AAC98508;AAG23962;AAH41332;AAH42598;AAH50532;BAC05730;BAD92027;BAD97339;BAF82880;BAG35233;CAA09031;CAA09939;CAA09940;CAA09941;CAA09980;CAA12359;CAA12360;CAA21453;CAA21454;CAI79356;EAX03205;EAX03206;EAX03207;EAX03208;EAX03209;EAX03210;EAX03211;EAX03212;NP_001461;NP_068703;NP_068704;Q9UBS5;XP_005249039;XP_005272842;XP_005274898;XP_005274988;XP_005275145;XP_005275284;XP_005275420;XP_006715110;XP_006725093;XP_006725540;XP_006725754;XP_006725870;XP_006725964;XP_006726051 Hs.167017 1739343;1773031;1789607;1847375;2120703;2175616;2183283;2187156;2220062 A002D34;D6S2270;D6S2871;D6S346E;G19983;JA06;RH45759;RH63712;WI-12368 FLJ92613;GABABR1;GABBR1-3;GB1;GPRC3A;dJ271M21.1.1;dJ271M21.1.2 GABA-B receptor 1;GABA-B-R1;GABA-BR1;GABAB, subunit 1c;OTTHUMP00000029114;OTTHUMP00000029115;OTTHUMP00000029116;OTTHUMP00000109099;OTTHUMP00000214725;gamma-aminobutyric acid type B receptor subunit 1;seven transmembrane helix receptor APPROVED protein-coding ENSG00000204681 HGNC:4070 04644 603540 REVIEWED 68441 GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008] X X X q28 151367187 151388743 - 151121596 151143156 - 151953124 151974679 - 1580863;6480464;8554872 10023064;10804200;12367593;12477932;14702039;15755675;15946973;17207965;17293408;17615250;17714454;19078961;19086053;19087248;19874574;20468064;20609421;21422964;24022508;9039914;9084408;9185540;9339354 2564 A8MT31;F2Z2H5;P78334 ABBA01037272;ABBA01037273;AF086385;AF274855;AK124085;AK299174;AK303072;AL603607;AMYH02040783;BC026337;BC047108;BC059376;CH471169;NG_012511;NM_004961;U66661;U92283;U92285;XM_006724812;XM_006724813;Y07637;Y09763;Y09764;Y09765 AAB49284;AAB94645;AAH26337;AAH47108;AAH59376;ADQ33039;BAG61220;BAG64188;CAA68914;CAA70903;CAA70904;EAW99414;EAW99415;EAW99416;EAW99417;EAW99418;EAW99419;NP_004952;P78334;XP_006724875;XP_006724876 Hs.22785 1655604;1723097;1795886;2161352;2163485 GABRE_119;RH11304;RH118462;STS-T27014;WI-17137 GABA(A) receptor subunit epsilon;GABA(A) receptor, epsilon;OTTHUMP00000025892;OTTHUMP00000025893;gamma-aminobutyric acid receptor subunit epsilon APPROVED protein-coding ENSG00000102287 HGNC:4085 02104 300093 REVIEWED 1344590 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q34 157525645 157613546 + 161494648 161582545 + 162067642 162155539 + 1358631;1580863;6480237;6480464;7240710;8554872;8699517 12117362;15929193 10449790;10659839;11140951;11326274;11326275;11328646;11748509;11779480;11948245;12225856;12232773;12367594;12367595;12384214;12477932;12574411;12672902;12694927;12759178;1321150;1321425;14569258;14593118;14625018;14702039;14736867;14966130;14981251;15016806;15028279;15033447;15229235;15257153;15342642;15470132;15489334;15542698;15772696;15955415;16172613;16344560;16412095;16627470;16806831;17124266;17162195;17440936;17641256;17880575;17927801;18085588;18175077;18197653;18292428;18566737;18755274;18825662;19019179;19065515;19078961;19086053;19219857;19236456;19292758;19428381;19522081;19523047;19553237;19650112;19682861;19705103;19834535;19842164;19854014;19874574;20098824;20132297;20356767;20468064;20485450;20583128;21219304;21474657;21714819;21729720;21751815;21908847;21983990;22011963;22239287;22539854;22572707;22750526;23069679;23140995;23257655;23266428;23308109;23677991;23720301;24061200;24199598;24425869;24912277;2538761;7851879;8875185;9892355 2566 A8MWU7;E5RGG2;E5RGJ0;E5RIG3;P18507 ABBA01044199;ABBA01044200;AC008611;AC091926;AC091984;AF165124;AK123394;AK299640;AK315200;AMYH02012621;AMYH02012622;BC036030;BC052926;BC059389;BC069348;BC074795;CD013896;CD013897;CH471062;DA226729;NG_009290;NM_000816;NM_198903;NM_198904;X15376 AAD50273;AAH59389;AAH69348;AAH74795;BAG61563;CAA33437;EAW61532;EAW61533;EAW61534;EAW61535;NP_000807;NP_944493;NP_944494;P18507 Hs.7195 1743583;1780724;1788672;1797560;1854477;2111898;2158614;2181525;2185083;5017699;5096724 D5S2513;D5S2576;G05059;GABRG2;GABRG2_2155;GDB:351021;RH106540;RH65298;STS-X15376;WI-19173;bac51814T CAE2;ECA2;GEFSP3 GABA(A) receptor subunit gamma-2;GABA(A) receptor, gamma 2;OTTHUMP00000160873;OTTHUMP00000160874;OTTHUMP00000224398;OTTHUMP00000224400;gamma-aminobutyric acid receptor subunit gamma-2 APPROVED protein-coding ENSG00000113327 HGNC:4087 00663 137164;607681;611277 REVIEWED 731063 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008] 4 4 4 p12 47482542 47877035 + 47033295 47432801 + 47031278 47426445 + 1580863;6480237;6480253;6480464;6480254;8554872 15929193;16770606;20066485 10023064;10195104;10449790;10900018;11085308;11140838;11324945;11350968;11528422;11606067;11891318;12477932;12595241;12601092;1321150;1323140;14702039;15198677;15337300;15489334;16278087;1652891;1655634;16800828;17370265;17655760;18281286;18650446;19078961;19567891;19874574;20379614;20468064;20843900;20848605;21145461;2160058;21751815;21988832;22393585;22505724;23251661;23392927;23917429;24022508;24250222;2465923;24722188;25036637;8125298;8178835 2560 D6REM0;P18505;X5DNL6 ABBA01014331;ABBA01014332;ABBA01014333;ABBA01014334;ABBA01014335;AC097712;AC105394;AC107392;AF285168;AK094991;AK225167;AK225686;AK293691;AK296023;AK307120;AK312720;AMYH02009157;AMYH02009158;AMYH02009159;AMYH02009160;AMYH02009161;BC022449;CH471069;DC352362;KJ534841;KJ535054;M59216;NM_000812;S70733;X14767 AAA35862;AAB30712;AAF88061;AAH22449;ABM83283;ABM84296;ABM86490;ABM87689;ABM87690;AHW56481;AHW56693;BAG35594;BAG57128;BAG58792;CAA32875;EAW93030;EAW93031;EAW93032;NP_000803;P18505 Hs.27283;Hs.633316 1650604;1669349;1688548;1727545;1727647;1749695;1754773;1768573;1774553;1857762;2116773;2131952;2159020;2167837 D4S2534E;D4S2781;D4S2867;G33951;G63030;G63235;M59215;SHGC-111368;SHGC-33334;SHGC-59554;SHGC-67259;SHGC4-68;SHGC4-879;WI-19172 GABA(A) receptor subunit beta-1;GABA(A) receptor, beta 1;OTTHUMP00000125281;gamma-aminobutyric acid A receptor beta 1;gamma-aminobutyric acid receptor subunit beta-1 APPROVED protein-coding ENSG00000163288 HGNC:4081 15924 137190 REVIEWED 733632 GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012] 15 15 15 q12 5377602 5938310 + 27216429 27778373 + 26971282 27533227 + 1580863;6480464;8554872 10414349;10891602;11329013;11948245;12477932;14745296;14981720;16080114;16674551;17957331;18334916;18516948;19019179;19058789;19078961;19086053;19598235;19727025;19736351;19874574;20379614;20398908;20436377;20468064;20583128;22969067;23535033;7601451;8175718;8719414 2567 H0YJ81;H0YJP1;H7BZQ0;Q99928 ABBA01044303;ABBA01044304;ABBA01044305;ABBA01044306;ABBA01044307;ABBA01044308;ABBA01044309;ABBA01044310;AC104002;AC127511;AC135326;AC136896;AC144833;AC145436;AF269144;AMYH02030116;AMYH02030117;AMYH02030118;AMYH02030119;AMYH02030120;BC029850;BC045709;BG201662;BX282033;CH471151;DN990720;EU606049;KC877538;KF511214;NG_032887;NM_001270873;NM_033223;S82769 AAB39369;AAF99698;EAW57658;EAW57659;NP_001257802;NP_150092;Q99928 Hs.569475 1298332;1335426;1646586;1677408;1745045;1745049;1750853;1751573;1759495;2168712 D15S822;D15S975;GDB:593252;GDB:593257;RH71404;SHGC-104634;SHGC-105519;SHGC-150906;SHGC-35889;WI-10300 GABA(A) receptor subunit gamma-3;GABA(G) receptor, gamma 3;OTTHUMP00000041751;gamma-aminobutyric acid receptor subunit gamma-3 APPROVED protein-coding ENSG00000182256 HGNC:4088 02579 600233 REVIEWED 737032 GABRP gamma-aminobutyric acid (GABA) A receptor, pi The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] 5 5 5 q35.1 166242778 166273110 + 170210723 170241051 + 170783719 170814047 + 728637;1580863;6480464;8554872 9182563 10209232;10414965;10462548;12477932;12775419;14702039;15489334;16172613;16187283;19078961;19086053;19834535;20103740;20468064;20583128;23470693 2568 E5RG98;E5RGF7;E5RHF6;E5RHU0;E5RI57;E5RK74;E7EWG0;O00591 ABBA01044090;ABBA01044091;AC008514;AC008815;AF009693;AF009694;AF009695;AF009696;AF009697;AF009698;AF009699;AF009700;AF009701;AF009702;AK055205;AK292901;AK296805;AK300303;AL708685;AMYH02012724;BC074810;BC074865;BC109105;BC109106;CH471062;CS501268;DC346374;NM_001291985;NM_014211;U95367;XM_005265872;XM_005265873;XM_005265874 AAC24194;AAC51357;AAH74810;AAH74865;AAI09106;AAI09107;BAF85590;BAG51486;BAG59378;BAG62056;CAM83950;EAW61466;EAW61467;EAW61468;NP_001278914;NP_055026;O00591;XP_005265929;XP_005265930;XP_005265931 Hs.26225 1657285;1674244;1762741;1775523;1780528;1788668;1795888;2187221 GABRP_98;RH104596;RH48767;RH65368;SGC34169;SHGC-146528;STS-R55016;bac51039T MGC126386;MGC126387 GABA(A) receptor subunit pi;GABA(A) receptor, pi;OTTHUMP00000161000;OTTHUMP00000223234;OTTHUMP00000223235;gamma-aminobutyric acid receptor subunit pi APPROVED protein-coding ENSG00000094755 HGNC:4089 04105 602729 REVIEWED 732733 GABRG1 gamma-aminobutyric acid (GABA) A receptor, gamma 1 The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008] 4 4 4 p12 46488013 46574168 - 46037786 46126082 - 46035769 46124065 - 1580863;6480464;8554872 10449790;11948245;12477932;1321425;14702039;16080114;17507911;17976953;18818659;19019179;19078961;19086053;19426171;19736351;20379614;20468064;20583128;21750581;21919924;22817768;24425869 2565 Q8N1C3 ABBA01014323;AC095058;AC096592;AK122845;AK124800;AK289806;AK299884;AMYH02009148;AMYH02009149;AMYH02009150;BC031087;BX648937;CH471069;CR933628;NM_173536 AAH31087;ABM81902;ABM85076;BAF82495;BAG53758;BAG61731;CAI45936;EAW93021;NP_775807;Q8N1C3 Hs.375051 1698620;1785188;1785204;1788674 RH102865;RH106541;SHGC-83115;SHGC-85404 DKFZp686H2042;MGC33838 GABA(A) receptor subunit gamma-1;GABA(A) receptor, gamma;OTTHUMP00000158769;gamma-1 polypeptide;gamma-aminobutyric acid receptor subunit gamma-1 APPROVED protein-coding ENSG00000163285 HGNC:4086 15923 137166 REVIEWED 731793 GABRQ gamma-aminobutyric acid (GABA) A receptor, theta The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. This gene location is also the candidate region of two different neurologic diseases: early-onset parkinsonism (Waisman syndrome) and X-linked mental retardation (MRX3). [provided by RefSeq, Nov 2009] X X X q28 152051839 152067018 + 151806637 151821825 + 152638183 152653362 + 68250;1580863;6480464 10804200 10414349;10449790;12477932;15489334;19078961;19086053;19087248;19874574;20468064;21422964;22690081;23169495;8828036 55879 Q9UN88 ABBA01037332;AC244102;AF002997;AF144648;AF189259;BC109210;BC109211;CH471169;NG_015965;NM_018558;U47334 AAC50559;AAD51172;AAF70380;AAI09211;AAI09212;EAW99424;NP_061028;Q9UN88 Hs.283081 1667058;1788680;1797562 B342YE5;GABRQ_322;RH106546 MGC129629;MGC129630 GABA(A) receptor subunit theta;GABA(A) receptor, theta;GABA-A receptor theta subunit;OTTHUMP00000024230;THETA;gamma-aminobutyric acid (GABA) receptor, theta;gamma-aminobutyric acid receptor subunit theta APPROVED protein-coding HGNC:14454 02284 300349 REVIEWED 736139 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013] 15 15 15 q12 4950603 5179865 - 26788693 27018935 - 26543546 26773788 - 704404;1580863;1601269;1601268;6480464;7240710;8554872;8699517 12189488;16835263 10023064;10514831;10515160;11085308;11140838;11528422;11711165;11810291;11920158;12048673;12225856;12367595;12477932;12491987;12595241;12640458;12973656;1346439;14503638;14702039;14724252;15028279;15066703;15198677;15296817;15318112;15337300;15489334;15615769;15767729;16023997;16080114;16344560;1664410;16674551;16712791;17124266;1714232;17215107;17225872;17230033;17272867;17326191;17339270;17471287;17880575;17957331;18085588;18281286;18358985;18452349;18467327;18514161;18650446;18821008;18837046;18978678;19058789;19078961;19086053;19268543;19430570;19598235;19717274;19734545;19736351;19874574;19935738;19937600;20308251;20379614;20468064;20550555;20634891;20834067;20843900;21908847;22080424;22243422;22303015;22414661;22505724;22812221;23438326;23677991;24199598;24722188;8136833;8175718;8382702;8389098;9126483;9328477 2562 B2RCW8;F5H7N0;G3V373;G3V3U3;G3V4W7;G3V5B4;H0YJU6;P28472;X5DQY4 ABBA01048704;ABBA01048705;ABBA01048706;ABBA01048707;ABBA01048708;ABBA01048709;ABBA01048710;AC009878;AC011196;AC104569;AK056018;AK095011;AK295167;AK302822;AK315311;AL120032;AMYH02030108;AMYH02030109;AMYH02030110;AMYH02030111;AMYH02030112;AMYH02030113;AW294342;BC010641;BC038837;BE220174;BE783170;CB162957;CD013894;CD652458;CH471151;CR747353;DA138788;DB479831;DN994054;KJ534842;L04311;M82919;NG_012836;NM_000814;NM_001191320;NM_001191321;NM_001278631;NM_021912;NR_103801 AAA52507;AAA52508;AAA52511;AAH10641;ABM82012;ABW03356;AHW56482;BAG37715;BAH11997;BAH13811;EAW57653;EAW57654;EAW57655;NP_000805;NP_001178249;NP_001178250;NP_001265560;NP_068712;P28472 Hs.302352;Hs.727263 1334569;1679994;1686875;1695984;1703910;1710562;1732405;1742283;1743217;1743219;1743221;1743223;1756115;1775801;1795884;2154010 D15S511;D15S97;GABRB3_1630;GDB:194754;GDB:304598;GDB:304601;GDB:304604;GDB:304607;RH11160;RH78433;SHGC-142906;SHGC-82382;SHGC-82733;SHGC-83616;STS-R43452;WI-15959 ECA5;MGC9051 GABA(A) receptor beta-3 subunit;GABA(A) receptor subunit beta-3;GABA(A) receptor, beta 3;GABA-A receptor beta-3 subunit;GABA-alpha receptor beta-2 subunit;GABAA receptor beta-3 subunit;OTTHUMP00000159535;OTTHUMP00000159558;OTTHUMP00000246783;OTTHUMP00000246855;OTTHUMP00000246857;gamma-aminobutyric acid A receptor beta 3;gamma-aminobutyric acid receptor subunit beta-3 APPROVED protein-coding ENSG00000166206 HGNC:4083 08844 137192;612269 REVIEWED 1346666 GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 6 6 6 q15 90305117 90345991 - 89887223 89941007 - 89177504 89231288 - 1580863;6480464 10542332;10625616;10779366;11102469;11862606;12175859;12226075;12431995;12477932;1315307;14574404;14660627;15163459;15548535;16198491;16344560;16999686;18079559;18227272;1849271;18599601;18675255;19078961;19086053;19536785;19717338;20056107;20468064;20583128;20820800;20889312;21963094;22169095;22747884;23755849;7472519;9153229;9839716;9892354 2569 F8WB88;P24046 ABBA01040527;AK296124;AK298948;AK313609;AL353135;AL353659;AMYH02014075;AMYH02014076;AMYH02014077;AW135923;BC130344;CH471051;DA753437;DC403980;M62400;NM_001256703;NM_001256704;NM_001267582;NM_002042;XM_006715438 AAA52509;AAI30345;BAG58870;BAG61047;EAW48558;NP_001243632;NP_001243633;NP_001254511;NP_002033;P24046;XP_006715501 Hs.99927 1672341;1691084;1718389;1753301;2122237 D6S2057;RH122969;RH80482;SHGC-81716;WI-18966 MGC163216 GABA(A) receptor subunit rho-1;GABA(A) receptor, rho 1;GABA(C) receptor;OTTHUMP00000016849;OTTHUMP00000209035;bA135P14.1 (gamma-aminobutyric acid (GABA) receptor, rho 1);gamma-aminobutyric acid (GABA) A receptor, rho-1;gamma-aminobutyric acid (GABA) receptor, rho 1;gamma-aminobutyric acid receptor subunit rho-1 APPROVED protein-coding ENSG00000146276 HGNC:4090 15921 137161 REVIEWED 1352541 GABRR3 gamma-aminobutyric acid (GABA) A receptor, rho 3 The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012] 3 3 3 q11.2 96095069 96143378 - 97705527 97754148 - 97986683 98035304 - 1580863;6480464 10542332;12431995;15617751;16641997;19078961;19086053;20820800 200959 A8MPY1 AADB02004500;ABBA01026939;AC026100;AMYH02007285;CR749263;KF459624;NM_001105580;NR_047685;Y18994 A8MPY1;CAB60835;NP_001099050 Hs.534578 1337429;1654315;1789076 D3S1752;D3S3283;G65673 DKFZp781O1955 GABA(A) receptor subunit rho-3;GABA(A) receptor, rho 3;GABA(C) receptor;OTTHUMP00000214141;gamma-aminobutyric acid (GABA) receptor, rho 3;gamma-aminobutyric acid receptor subunit rho-3 APPROVED protein-coding ENSG00000183185 HGNC:17969 REVIEWED 733945 GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008] 10 10 10 p11.23 26216982 26305252 + 26505236 26593491 + 26216307 26304562 + 1302511;1580863;1300048;2313292;2313294;2313295;2313296;2313289;2313298;6480464;6480427;6907045;8554872 18005036;18588707;18985010;19085183;19188044;19741189;21250934;8954991 10671565;10814590;12021098;12021103;12097368;12196483;12197888;12296864;12356867;12376704;12477932;12503190;12606513;12750892;14557453;14576464;14691540;15091314;15114630;15147202;15163889;15170642;15277377;15365614;1549570;15603740;15642443;15671113;15834701;15836621;16122350;16385451;16718280;16731858;16741266;17034009;17090641;17167787;17384644;17412563;17459095;17479437;17657474;17992632;18047830;18184926;18367670;18371956;18378887;18487477;19058789;19086053;19111404;19125103;19156168;19229853;1924293;19686769;19783309;19874574;19876004;19913121;20010500;20016201;20083660;20201926;20379614;2039509;20468064;20602615;20628086;20634891;20659789;21073664;21385406;21491431;21494613;21517929;21792090;21937910;22103299;22104260;22366823;22552777;22624794;22865904;23114513;23822856;7680313;7836456;8088791;8243826;8999827 2572 Q05329;Q5VZ29;Q5VZ30;Q5VZ31 ABBA01034422;AJ251501;AK127375;AL162503;AMYH02022494;AY340073;BC029517;BC039038;BC047899;BC126327;BC126329;BI438818;BP392604;CH471072;M74826;M81882;NM_000818;NM_001134366;X69936 AAA58491;AAA62367;AAH29517;AAI26328;AAI26330;AAP88040;ADR83065;BAC86947;CAB62572;EAW86101;EAW86102;EAW86103;EAW86104;NP_000809;NP_001127838;Q05329 Hs.231829 1340909;1654782;1758807;1788060;1788062;1788064;7185322;7187018 D10S197;G67241;G67242;G67243;SHGC-240;SHGC-31510 GAD-65;GAD65;MGC161605;MGC161607 65 kDa glutamic acid decarboxylase;Glutamate decarboxylase-2 (pancreas);OTTHUMP00000019335;OTTHUMP00000019336;glutamate decarboxylase 2;glutamate decarboxylase 65 kDa isoform 1643373;1643375;1643390;2289527 BW341_H;BW342_H;BW343_H;BW436_H APPROVED protein-coding ENSG00000136750 HGNC:4093 11817 138275 REVIEWED 733803 GADD45A growth arrest and DNA-damage-inducible, alpha This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010] 1 1 1 p31.2 66441746 66444882 + 68150860 68154021 + 67685177 67688338 + 1580863;5509080;6480464;6484113;6907045 19124556 10022855;10362260;10747892;10828065;10872826;10912791;10973963;11076863;11256614;11498536;11777930;11893252;12052864;12124778;12168790;12171872;12477932;12483522;12716909;12748288;14506229;14517299;14586402;14635187;14647444;15203190;15328371;15353598;15489334;15489336;15616591;15623356;15642443;15644315;15650754;15735726;15736438;15899854;16157202;16169070;16189514;16353139;16381901;16421274;16772293;16827157;16951143;16997058;17140287;17178890;17230496;17436581;17474084;17599061;17616671;17703175;18243530;18296737;18350249;18369439;18413758;18472964;18480060;18611122;18760377;18950845;19048389;19052873;19064572;19128509;19190346;19298651;19452502;19459735;19536092;19550118;19593445;19596022;19728081;19789190;1990262;20012529;20131288;20444249;20460379;20639865;20652500;20932473;21048031;21120602;21139048;21211282;21368893;21739277;21813510;21890473;21900206;21906983;21931671;21963094;21986581;21988832;22135303;22313682;22430142;22521726;22718299;22825327;22970179;23000965;23071284;23114628;23158659;23187294;23227140;23478041;23485469;23563151;23603344;23616123;23706118;23846616;24062075;24104470;24104471;24104476;24177565;24894488;7478510;7478594;7784094;7798274;7973727;8226988;9178907;9705499;9827804 1647 A5JUZ3;P24522 ABBA01074515;AK314991;AL136120;AMYH02001208;AY135686;BC011757;BU629410;CH471059;DQ008445;EF581092;EF614238;HI179176;L24498;M60974;NM_001199741;NM_001199742;NM_001924 AAA35863;AAA72045;AAH11757;AAM88884;AAY25021;ABM84155;ABM87557;ABQ52427;BAG37487;CAL38317;CBX53896;EAX06487;EAX06488;NP_001186670;NP_001186671;NP_001915;P24522 Hs.80409 1777759;1795890;1855035 D1S3318;GADD45A_1660;SHGC-74965 DDIT-1;DDIT1;GADD45 DNA damage-inducible transcript 1 protein;DNA damage-inducible transcript-1;DNA-damage-inducible transcript 1;OTTHUMP00000010979;OTTHUMP00000010981;growth arrest and DNA damage-inducible protein GADD45 alpha;growth arrest and DNA-damage-inducible 45 alpha APPROVED protein-coding ENSG00000116717 HGNC:4095 00528 126335 REVIEWED 8656246 GACAT2 gastric cancer associated transcript 2 (non-protein coding) 18 18 18 p11.22 8580149 8591782 - 8695854 8707613 - 8695856 8707615 - 24063685;24833871;24961350;25077925;8889548 100287082 ABBA01049935;ABBA01049936;AMYH02034281;AP000864;BM717007;BQ026945;NR_120598;XR_109465;XR_111764;XR_172235 Hs.439434 MTCL1-AS1 APPROVED ncrna ENSG00000265962 HGNC:50516 VALIDATED 733681 GABRD gamma-aminobutyric acid (GABA) A receptor, delta Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p36.3 630843 641887 - 1950768 1962192 + 2019329 2030753 + 1580863;6480464;7240710;8554872 10965146;12119096;12477932;15115768;15489334;16023832;16189514;16256272;16344560;16710414;16713569;18406065;19086053;19289452;19874574;20561060;2176788;21795619;21906983;23756480 2563 A8K496;O14764 ABBA01016082;AF016917;AI828107;AI936907;AK290861;AL391845;AMYH02000116;AW291520;BC033801;BI824761;CH471183;DA060315;DA064930;NG_008168;NM_000815 AAB70007;AAH33801;ABM82976;BAF83550;EAW56137;NP_000806;O14764 Hs.113882 1732924 D1S1328 EIG10;EJM7;GEFSP5;MGC45284 GABA(A) receptor subunit delta;GABA(A) receptor, delta;GABA-A receptor, delta polypeptide;OTTHUMP00000038578;gamma-aminobutyric acid receptor subunit delta APPROVED protein-coding ENSG00000187730 HGNC:4084 08842 137163;613060 REVIEWED 1319220 GADD45B growth arrest and DNA-damage-inducible, beta This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 2413616 2415750 + 2476123 2478257 + 2476125 2478259 + 1580863;6480464;6484113;6907045 10101024;10773677;10828065;10872826;10973963;11078829;11498536;12052864;12124778;12162804;12477932;12716909;12759252;12855571;14630914;14743220;15057824;15342556;15489334;15509538;15546867;15616591;15642734;16144844;16256071;17437852;17485467;17591973;18343408;18515079;18576389;1899477;19064572;19834918;19877043;20530689;20558744;20942912;21062976;21127053;21139048;21810943;22048458;22096849;22797925;23110778;24104471;24104474;8700517;8889548;9151207;9827804 4616 K7EM97;K7EPQ8;O75293;Q6IX74 ABBA01002739;AC005624;AF078077;AF087853;AF090950;AF533019;AK129595;AK293087;AL050044;AMYH02035201;AY615270;AY615271;BC024654;BC113466;BC117469;BM670459;BP225713;CH471139;NM_015675 AAC34572;AAC36361;AAC83328;AAG48366;AAI13467;AAI17470;AAM92794;AAT38867;AAT38868;ADR83481;BAF85776;EAW69376;EAW69377;NP_056490;O75293 Hs.110571 2166119;2166670;5493431 D19S1085;RH68217;UniSTS:486198 DKFZp566B133;GADD45BETA;MYD118 growth arrest and DNA damage-inducible protein GADD45 beta;myeloid differentiation primary response protein MyD118;negative growth regulatory protein MyD118 APPROVED protein-coding ENSG00000099860 HGNC:4096 05382 604948 REVIEWED 733076 GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA receptor complex. [provided by RefSeq, Jul 2008] 6 6 6 q15 90385736 90443478 - 89966840 90025018 - 89257121 89315299 - 1580863;6480256;6480464 16080114 10542332;11102469;12175859;12431995;12477932;12660236;1315307;14574404;15489334;16344560;17913586;19078961;19086053;19167917;19536785;20222955;20468064;20583128;20820800;20889312;21420396;9153229;9839716 2570 P28476 ABBA01040528;ABBA01040529;AK293751;AL121833;AMYH02014078;AMYH02014079;BC130352;BC130354;BX490975;CH471051;DA863180;M86868;NG_033977;NM_002043 AAA52510;AAI30353;AAI30355;BAG57173;EAW48557;NP_002034;P28476 Hs.719891 1719025;1777901;1785804;2159941;2174095;2219090 G17035;GABRR2_2660;RH123219;SHGC-12769;SHGC4-1794;WI-18967 GABA(A) receptor subunit rho-2;GABA(A) receptor, rho 2;GABA(C) receptor;GABA-C receptor, rho-2 subunit;OTTHUMP00000016851;gamma-aminobutyric acid (GABA) receptor, rho 2;gamma-aminobutyric acid receptor subunit rho-2 APPROVED protein-coding ENSG00000111886 HGNC:4091 15922 137162 REVIEWED 1351528 GADL1 glutamate decarboxylase-like 1 ENCODES a protein that exhibits aspartate 1-decarboxylase activity (inferred); pyridoxal phosphate binding (inferred); sulfinoalanine decarboxylase activity (inferred); INVOLVED IN carboxylic acid metabolic process (inferred); INTERACTS WITH titanium dioxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 3 3 3 p24.1-p23 30704622 30873129 - 30767692 30936153 - 30726200 30894661 - 6480464 12477932;23568457;24369049 339896 Q6ZQY3 ABBA01024959;ABBA01024960;ABBA01024961;AC095029;AC096921;AC138391;AK128643;AL832766;AMYH02006477;AMYH02006478;BC093701;BC111986;CH471055;NM_207359 AAH93701;AAI11987;BAC87546;EAW64414;NP_997242;Q6ZQY3 Hs.657052 1732806;1775422;1856950;2124781 D1S1259;SHGC-74540;SHGC-74543;SHGC-74552 ADC;CSADC;MGC138191 HuADC;HuCSADC;OTTHUMP00000161199;OTTHUMP00000222306;aspartate 1-decarboxylase;cysteine sulfinic acid decarboxylase;glutamate decarboxylase-like protein 1 protein-coding ENSG00000144644 HGNC:27949 13557 615601 VALIDATED 1351546 GAGE1 G antigen 1 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] X X X p11.23 53437862 53442740 + 49363616 49373139 + 49599013 49608536 + 1580863 10397259;12477932;12890744;14607688;15206491;15362791;16929165;17208940;17709385;17715884;18179644;20053773;20423514;21832049;7544395;9651357 2543 Q05DQ1;Q13065;Q13068 ABBA01063263;AC142496;AC142497;AC231643;AMYH02039349;BC005363;BC036094;BC069470;DB448801;DC401704;NM_001040663;NR_102272;U19142 AAA82744;AAH05363;AAH36094;AAH69470;ABM81885;ABM85053;NP_001035753;Q13065 Hs.278606 5024413;5109663 D7S2067E;L17877 CT4.1;GAGE-1;MGC33825 MZ2-F antigen;OTTHUMP00000025848;cancer/testis antigen 4.1;cancer/testis antigen family 4, member 1 APPROVED protein-coding ENSG00000205777 HGNC:4098 05028 300594 REVIEWED 1602944 GAGE10 G antigen 10 X X p11.23 49160125 49176311 + 49303729 49322086 + 12477932;15772651;18179644 102724473 A6NGK3 ABBA01046152;ABBA01046153;AC233302;AF235097;AMYH02039324;NM_001098413;XM_006710256;XM_006724573;XM_006726842 A6NGK3;AAI60111;NP_001091883;XP_006710319;XP_006724636;XP_006726905 GAGE-10;OTTHUMP00000025834 protein-coding ENSG00000215274 HGNC:30968 300737 VALIDATED 1350925 GADD45AP1 growth arrest and DNA-damage-inducible, alpha pseudogene 1 12 12 q 88214598 88215346 + 87820821 87821569 + 1990262 1648 ABBA01053429;AC079598;AMYH02026895;NG_031939 DDIT1L;GADD45AL APPROVED pseudo HGNC:2725 INFERRED 730853 GAD1 glutamate decarboxylase 1 (brain, 67kDa) This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008] 2 2 2 q31 165289914 165334327 + 171673200 171717661 + 170816690 170861151 + 1302586;1580863;1300048;6480464;6480428;6480430;6480264;6480427;6907045;7240710;8554872;8699517 17303389;18534564;21250934;22328461;9326630 10671565;11140838;12376704;12477932;12515288;12750892;12774663;1339255;14681921;14702039;15014985;15091314;15103710;15114630;15147202;15489334;1549570;15505639;15542242;15571623;15681389;15806582;15836621;16189514;16718280;16722236;1683463;1697032;17113713;17235515;17325256;17384644;17412563;17471287;17474147;17553960;17652798;17726539;17767149;17918742;18047830;18294085;18335162;18470533;18783896;18837046;19086053;19111404;19139806;19156168;19321177;19328558;19367581;19428124;19548263;19783309;19874574;20201926;20236554;20301682;20357758;2039509;20598486;20602615;20634891;20659789;20832408;20859245;20960264;21034448;21041608;21223646;21302352;21494613;21509853;21632647;21937910;22099865;22309971;22384267;22564729;22662185;22840783;23022470;23566421;23906988;24228494;24261884;7836456;8088791;8507202;8507203;8954991;9973289 2571 C9J6C9;C9JLZ7;C9JN45;C9JT43;F8WD43;Q8IVA8;Q99259;U3KQR2 A28074;ABBA01014918;ABBA01014919;ABBA01014920;AC007405;AF178853;AK127781;AK292582;AK307460;AMYH02005210;AMYH02005211;AY337516;BC002815;BC026349;BC036552;BC037780;CH471058;L16888;M55574;M70434;M81883;M86522;NG_021477;NM_000817;NM_013445;S61897;S61898;XM_005246443;XM_005246444;Z22750 AAA35900;AAA52512;AAA62368;AAA72938;AAB26937;AAB26938;AAB59427;AAF18390;AAH02815;AAH26349;AAH36552;AAH37780;AAP88035;AAY24237;ABM83302;ABM86516;BAF85271;CAA01913;CAA80435;EAX11228;EAX11229;EAX11230;NP_000808;NP_038473;Q99259;XP_005246500;XP_005246501 Hs.420036 1335926;1336968;1341435;1718607;1748243;1748245;1748247;1748249;1748251;1748253;1748255;1748257;1748259;1748261;1748263;1748265;1854837;2113904;2152789 D2S124;D2S148;D2S2194;G66908;G66909;G66910;G66911;G66912;G66913;G66914;G66915;G66916;G66917;G66918;G66919;GAD1;RH122989;SHGC-30155;SHGC-31511 CPSQ1;FLJ45882;GAD;GAD67;SCP 67 kDa glutamic acid decarboxylase;GAD-67;OTTHUMP00000041054;OTTHUMP00000041055;OTTHUMP00000204990;OTTHUMP00000204993;OTTHUMP00000204994;OTTHUMP00000204995;OTTHUMP00000228572;glutamate decarboxylase 1;glutamate decarboxylase 67 kDa isoform APPROVED protein-coding ENSG00000128683 HGNC:4092 12011 603513;605363 REVIEWED 1606614 GAGE12B G antigen 12B INTERACTS WITH cadmium atom X X p11.23 53437862 53440249 + 49315927 49323188 + 6480464 11329013;12477932;18179644 729428 A1L429 AC142497;BC130374;BC143615;BC143619;NM_001127345 A1L429;AAI30375;AAI43616;AAI43620;NP_001120817 Hs.632812 GAGE-12B;GAGE12C;GAGE12D;GAGE12E;MGC163246 G antigen 12B/C/D/E;G antigen 12C/D/E;GAGE-12C;GAGE-12D;GAGE-12E protein-coding ENSG00000236737 HGNC:26779 PROVISIONAL 1606348 GAGE12E G antigen 12E X X X p11.23 53437862 53440313 + 49315892 49323252 + 49551289 49558649 + 11329013;18179644 729431 A1L429 AC142497;NM_001098418 A1L429;ADR82812;NP_001091888 Hs.632812 GAGE-12B;GAGE12B;GAGE12C;GAGE12D G antigen 12B/C/D/E;G antigen 12C/D/E;GAGE-12C;GAGE-12D;GAGE-12E;OTTHUMP00000025844 protein-coding ENSG00000216649 HGNC:31905 300729 PROVISIONAL 1606349 GAGE12C G antigen 12C X X X p11.23 53437862 53440313 + 49296780 49304144 + 49532177 49539541 + 18179644 729422 A1L429 AC142497;AMYH02039335;NM_001098408 A1L429;NP_001091878 Hs.632812 GAGE-12B;GAGE12B;GAGE12D;GAGE12E G antigen 12B/C/D/E;G antigen 12C/D/E;GAGE-12C;GAGE-12D;GAGE-12E;OTTHUMP00000025842 protein-coding ENSG00000237671 HGNC:28402 300727 PROVISIONAL 1319487 GADD45GIP1 growth arrest and DNA-damage-inducible, gamma interacting protein 1 This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012] 19 19 19 p13.2 12954701 12957779 - 13064970 13068068 - 12954156 12957254 - 1580863;6480464;8554872 10441517;11710515;12477932;12482659;12716909;15231747;15459248;15489334;17069992;17207965;17804717;17885209;19305429;20098747;20186120;20427290;20972266;21139048;21145461;21832049;21890473;21911160;22446626;22939629;24103312;24778252;24816145 90480 Q7LAX7;Q8TAE8 ABBA01029763;AC092069;AF412816;AF475095;AF479749;AI309741;AJ295986;AJ429498;AMYH02035561;BC004944;BC013027;BC013039;BC069200;BI459923;CH471106;NM_052850 AAH04944;AAH13027;AAH13039;AAH69200;AAL55291;AAL85877;AAM10639;ADQ32003;CAC82499;CAD22344;EAW84335;NP_443082;Q8TAE8 Hs.515164 1775164;1776613 RH41814;WI-11591 CKBBP2;CKbetaBP2;CRIF1;MGC4667;MGC4758;MRP-L59;PLINP;PLINP-1;PRG6;Plinp1 39S ribosomal protein L59, mitochondrial;CKII beta binding protein 2;CKII beta-associating protein;CR6 interacting factor 1;CR6-interacting factor 1;growth arrest and DNA damage-inducible proteins-interacting protein 1;growth arrest- and DNA damage-inducible GADD45G-interacting protein;p53-responsive gene 6 protein;papillomavirus L2 interacting nuclear protein 1;papillomavirus L2-interacting nuclear protein 1 APPROVED protein-coding HGNC:29996 05519 605162 REVIEWED 1603137 GAGE12D G antigen 12D X X X p11.23 53437862 53440319 + 49306325 49313710 + 49541722 49549107 + 18179644 100132399 A1L429 AC142497;NM_001127199 A1L429;NP_001120671 Hs.645554 GAGE-12B;GAGE12B;GAGE12C;GAGE12E G antigen 12B/C/D/E;G antigen 12C/D/E;GAGE-12C;GAGE-12D;GAGE-12E;OTTHUMP00000025843 protein-coding ENSG00000227488 HGNC:31904 300728 PROVISIONAL 1606346 GAGE12H G antigen 12H X X X p11.23 53437862 53440313 + 49344552 49351907 + 49579949 49587304 + 15772651;18179644 729442 A6NDE8 AC142497;AMYH02039327;NM_001098410 A6NDE8;NP_001091880 Hs.632813 RP11-959H17.7 GAGE-12H;OTTHUMP00000025847 protein-coding ENSG00000224902 HGNC:31908 300732 PROVISIONAL 1606350 GAGE12J G antigen 12J INTERACTS WITH cadmium atom X X p11.23 49178516 49185866 + 49322037 49329387 + 6480464 12477932;15772651;18179644 729396 A6NER3 AC233302;AF235097;AK310423;AMYH02039324;AMYH02039325;AMYH02039326;BG186708;BX108227;NM_001098406 A6NER3;NP_001091876 Hs.645554;Hs.695912 GAGE11 G antigen 11;GAGE-12J;OTTHUMP00000025835 protein-coding ENSG00000224659 HGNC:17778 300733 VALIDATED 1604406 GAGE13 G antigen 13 X p11.23 49188094 49195366 + 11329013;12477932;15772651;18179644 645051 Q4V321 AC233302;AF235097;BX649339;NM_001098412 CAI95426;NP_001091882;Q4V321 GAGE12A;MGC163246 G antigen 12A;GAGE-12A;GAGE-13;OTTHUMP00000025836 protein-coding HGNC:29081 300734 VALIDATED 1323436 GADD45G growth arrest and DNA-damage-inducible, gamma This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008] 9 9 9 q22.1-q22.2 62803226 62804769 + 92219913 92221470 + 89605012 89606555 + 1580863;6480464;6484113;6907045 10455148;10490824;10496071;10597261;10773677;10872826;10973963;11022036;11078829;11498536;11889197;12124778;12477932;12716909;14672412;15062559;15353598;15383276;15489334;16166418;16189514;16344560;17178890;18464913;18997345;19048389;19064572;19293565;20098747;20111973;20739400;21832049;21850407;21900206;21931671;21988832;22058036;22752116;23512105;23616123;23793925;23897841;24104471;7681987;9827804 10912 O95257;Q5VZ88 ABBA01015388;AF078078;AF079806;AF087883;AF265659;AF494037;AK313689;AL161910;AMYH02021186;AY845250;BC000465;BC019325;BT007234;CH471089;CR457038;D83023;DA420966;NM_006705 AAC83329;AAD28544;AAF73468;AAH00465;AAH19325;AAK00414;AAM00007;AAP35898;AAW29982;BAA84543;BAG36438;CAG33319;EAW62774;NP_006696;O95257 Hs.9701 CR6;DDIT-2;DDIT2;GADD45-gamma;GADD45gamma;GRP17 DNA damage-inducible transcript 2 protein;OTTHUMP00000021623;OTTHUMP00000021624;cytokine-responsive protein CR6;gadd-related protein, 17 kD;growth arrest and DNA damage-inducible protein GADD45 gamma APPROVED protein-coding ENSG00000130222 HGNC:4097 05383 604949 REVIEWED 1344596 GAGE12I G antigen 12I This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X X p11.23 49216677 49223943 + 49341210 49529985 + 6480464 10397259;12477932;15489334;15772651;18179644;23029259;7544395;9651357 26748 O76087;P0CL80;P0CL81;P0CL82 AC142497;AC233302;AF055474;AF055475;AF058988;BC031628;BC069086;BC081536;BC104951;BC121182;BC121183;BC144193;BX649339;NM_001477 AAC25989;AAC33677;AAC33678;AAH31628;AAH81536;AAI04952;AAI21183;AAI21184;AAI44194;CAI95423;NP_001468;P0CL82 Hs.460641;Hs.632808;Hs.695912 AL4;CT4.7;GAGE-12F;GAGE-12G;GAGE-7;GAGE-7B;GAGE-8;GAGE12F;GAGE12G;GAGE7;GAGE7B G antigen 7B;GAGE-12I;OTTHUMP00000070307;cancer/testis antigen 4.7;g antigen 12F/G/I;g antigen 7 APPROVED protein-coding HGNC:4105 06573 300637 REVIEWED 2293117 GAGE2C G antigen 2C This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X X X p11.23 53437864 53440319 + 49226171 49233491 + 49331615 49338962 + 6480464 10037183;10397259;12477932;15489334;15772651;18179644;19934278;7544395;9651357 2574 Q13066 AMYH02039348;AMYH02039349;BC113926;BX649339;NM_001472;U19143 AAA82745;AAI13927;CAI95424;NP_001463;Q13066 Hs.460641 CT4.2;GAGE-2;GAGE-2B;GAGE-2C;GAGE2;GAGE2A;GAGE2B;MGC120097;MGC96883;MGC96930;MGC96942 G antigen 2;G antigen 2A/2B;G antigen 2B;G antigen 2B/2C;OTTHUMP00000070309;cancer/testis antigen 4.2 APPROVED protein-coding ENSG00000274274 HGNC:31958 05029 300595 REVIEWED 2293111 GAGE2D G antigen 2D INVOLVED IN cellular defense response (inferred) X X p11.23 53437864 53440313 + 49207116 49214420 + 12477932;18179644 729408 Q9UEU5 BC018052;BX649339;NM_001098407 AAH18052;CAI95422;NP_001091877;Q9UEU5 Hs.695912 CT4.8;GAGE-2D;GAGE-8;GAGE8;MGC26395 G antigen 8;OTTHUMP00000070310;cancer/testis antigen 4.8 protein-coding HGNC:31959 300735 VALIDATED 1346373 GAGE3 G antigen 3 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] p11.4-p11.2 6480464 10397259;12522270;18179644;7544395;9651357 2575 Q13067 U19144 AAA82746;Q13067 CT4.3;GAGE-3 cancer/testis antigen 4.3;cancer/testis antigen family 4, member 3 APPROVED protein-coding HGNC:4100 300596 1606347 GAGE12G G antigen 12G INTERACTS WITH cadmium atom X X X p11.23 53437862 53440313 + 49335003 49342360 + 49570400 49577757 + 6480464 12477932 645073 O76087;P0CL80;P0CL81;P0CL82 AC142497;AF055474;AF058988;AMYH02039334;BC031628;BC069086;BC081536;BC104951;BC121182;BC121183;BC144193;NM_001098409 AAC25989;AAC33677;AAH31628;AAH81536;AAI04952;AAI21183;AAI21184;AAI44194;NP_001091879;P0CL81 Hs.460641;Hs.632808;Hs.695912 AL4;CT4.7;GAGE-12F;GAGE-12G;GAGE-12I;GAGE-7;GAGE-7B;GAGE-8;GAGE12F;GAGE12I;GAGE7;MGC132611;RP11-959H17.6 OTTHUMP00000025846;cancer/testis antigen 4.7;g antigen 12F/G/I protein-coding ENSG00000215269 HGNC:31907 300731 PROVISIONAL 1350714 GAGE2A G antigen 2A INTERACTS WITH mitoxantrone X X X p11.23 53437862 53440313 + 49354118 49361430 + 49589515 49596827 + 6480464 11329013;12477932;15489334;15772651;19934278;7544395 729447 Q6NT46 AC142497;BC069309;BC069397;BC069558;BG184057;EC558573;NM_001127212 AAH69309;AAH69397;AAH69558;NP_001120684;Q13066;Q6NT46 Hs.460641;Hs.722100 CT4.2;GAGE-2;GAGE-2A;GAGE-2B;GAGE-2C;GAGE2;GAGE2B;GAGE2C;MGC96883;MGC96930;MGC96942 G antigen 2;G antigen 2A/2B;G antigen 2C;OTTHUMP00000025841;cancer/testis antigen 4.2;cancer/testis antigen family 4, member 2 protein-coding ENSG00000189064 HGNC:4099 300720 VALIDATED 1354409 GAGE5 G antigen 5 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X p11.4-p11.2 49103601 49110887 + 6480464 10397259;12477932;15489334;16189514;18179644;21044950;7544395;9651357 2577 Q13069 BC024914;NM_001475;U19146 AAA82748;AAH24914;ABM82086;ABM85267;NP_001466;Q13069 Hs.460641 CT4.5;GAGE-5 cancer/testis antigen 4.5;cancer/testis antigen family 4, member 5 APPROVED protein-coding HGNC:4102 05032 300598 REVIEWED 1344954 GAGE4 G antigen 4 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X p11.4-p11.2 49103593 49110884 + 6480464 10397259;12477932;15489334;18179644;7544395;9651357 2576 Q13068;Q13069 BC171769;CR542236;NM_001474;U19145 AAA82747;AAI71769;CAG47032;NP_001465;Q13068 Hs.460641;Hs.695912;Hs.722100 CT4.4;GAGE-4 cancer/testis antigen 4.4;cancer/testis antigen family 4, member 4 APPROVED protein-coding HGNC:4101 05031 300597 REVIEWED 1347743 GAGE7 G antigen 7 INTERACTS WITH 5-aza-2'-deoxycytidine; mitomycin C; mitoxantrone X p11.4-p11.2 49103622 49110884 + 6480464 10037183;10397259;12432251;12477932;15489334;15772651;18179644;19642896;9651357 2579 O76087;P0CL80;P0CL81;P0CL82 AF055474;AF058988;BC031628;BC069086;BC081536;BC104951;BC121182;BC121183;BC144193;NM_021123 AAC25989;AAC33677;AAH31628;AAH81536;AAI04952;AAI21183;AAI21184;AAI44194;NP_066946;O76087 Hs.460641;Hs.632808;Hs.695912 AL4;CT4.7;GAGE-12G;GAGE-12I;GAGE-7;GAGE-7B;GAGE-8;GAGE12G;GAGE12I G antigen 12G;cancer/testis antigen 4.7;cancer/testis antigen family 4, member 7 protein-coding HGNC:4104 04993 300601 PROVISIONAL 1343751 GAGEC2 G antigen, family C, 2 9724777 9505 HGNC:4109 1352149 GAGE6 G antigen 6 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X p11.4-p11.2 49212424 49219752 + 6480464 10397259;18179644;7544395;9651357 2578 Q13070 NM_001476;U19147 AAA82749;AAI48436;NP_001467;Q13070 Hs.632808 CT4.6;GAGE-6 cancer/testis antigen 4.6;cancer/testis antigen family 4, member 6 APPROVED protein-coding HGNC:4103 05033 300599 REVIEWED 1625320 GAGE12F G antigen 12F X X p11.23 53437864 53440219 + 49325416 49332811 + 18179644 100008586 O76087;P0CL80;P0CL81;P0CL82 AC142497;AF055474;AF058988;AI381509;BC031628;BC069086;BC081536;BC104951;BC121182;BC121183;BC144193;CF780547;HY016295;NM_001098405;XM_005272739;XM_005278009 AAC25989;AAC33677;AAH31628;AAH81536;AAI04952;AAI21183;AAI21184;AAI44194;NP_001091875;P0CL80;XP_005272796;XP_005278066 Hs.460641;Hs.632808;Hs.695912 GAGE12G;GAGE12I G antigen 12F/G/I;GAGE-12F;GAGE-12G;GAGE-12I;OTTHUMP00000025845 protein-coding HGNC:31906 300730 VALIDATED 1349095 GAGE8 G antigen 8 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X X p11 53437864 53440313 + 49207160 49214420 + 1580863 10397259;12477932;15489334;15772651;16189514;18179644;9651357 100101629 Q9UEU5 AF055473;BC143620;NM_012196 AAC33676;AAI43621;AAI56223;AAI56972;NP_036328;Q9UEU5 Hs.695912 CT4.8;GAGE-2D;GAGE-8;GAGE2D;MGC190052;MGC190826;MGC26395 G antigen 2D;OTTHUMP00000070310;cancer/testis antigen 4.8;cancer/testis antigen family 4, member 8 APPROVED protein-coding HGNC:4106 300638 REVIEWED 1346582 GAL3ST2 galactose-3-O-sulfotransferase 2 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 2. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 236386575 236413342 + 242716240 242743702 + 241776825 241804287 + 1580863;6480464 11029462;11181995;11323440;11333265;11504739;11926988;12036446;12477932;14701868;15489334;15921657;15926885 64090 Q9H3Q3 AB040610;ABBA01006065;ABBA01006066;AC114730;AC131097;AMYH02006120;BC117293;BC117295;CH471063;NM_022134 AAI17294;AAI17296;AAX82021;BAB16844;EAW71293;NP_071417;Q9H3Q3 Hs.632556 GAL3ST-2;GP3ST OTTHUMP00000200071;beta-galactose-3-O-sulfotransferase 2;gal 3-O-sulphotransferase;gal-beta-1, 3-GalNAc 3'-sulfotransferase 2;galbeta1-3GalNAc 3'-sulfotransferase 2;glycoprotein beta-Gal 3'-sulfotransferase 2 APPROVED protein-coding ENSG00000154252 HGNC:24869 16303 608237 REVIEWED 1350287 GAL3ST1 galactose-3-O-sulfotransferase 1 Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. The product of this gene is galactosylceramide sulfotransferase which catalyzes the conversion between 3'-phosphoadenylylsulfate + a galactosylceramide to adenosine 3',5'-bisphosphate + galactosylceramide sulfate. Activity of this sulfotransferase is enhanced in renal cell carcinoma. [provided by RefSeq, Jul 2008] 22 22 22 q12.2 14750340 14760591 - 30950622 30970572 - 30554635 30574578 - 1580863;6480464;6907045 10785389;12175333;12477932;15461802;15489334;19587831;21832049;2562955;4710574;5562350;6280086;6955451;8830034;9030544;911873;9847074 9514 C9J2M1;C9J2X7;C9J3S3;C9J4I2;C9J6M2;C9J993;C9JE31;C9JGL4;C9JIS3;C9JKD7;C9JLB5;C9JN55;C9JTV3;C9JU54;C9JYD7;C9K037;Q99999 AB029901;ABBA01055300;ABBA01055301;ABBA01055302;AC005006;AK313097;AMYH02038217;BC014649;BC019077;CH471095;CR456350;D88667;NM_004861;XM_005261848;XM_005261853;XM_005261856 AAH14649;AAH19077;ABM83198;ABM86399;BAA13673;BAA89503;BAG35921;CAG30236;CAK54491;CAK54790;EAW59899;EAW59900;EAW59901;EAW59902;EAW59903;NP_004852;Q99999;XP_005261905;XP_005261910;XP_005261913 Hs.17958 1644961;1650752 AL008650;SGC33827 CST 3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase;3'-phosphoadenylylsulfate:galactosylceramide 3'-sulfotransferase;GalCer sulfotransferase;OTTHUMP00000199361;OTTHUMP00000199362;OTTHUMP00000199363;OTTHUMP00000199364;OTTHUMP00000199365;OTTHUMP00000199366;OTTHUMP00000199367;OTTHUMP00000199368;OTTHUMP00000199369;OTTHUMP00000199370;OTTHUMP00000199371;OTTHUMP00000199372;OTTHUMP00000199373;OTTHUMP00000199374;OTTHUMP00000199375;OTTHUMP00000199401;OTTHUMP00000199402;OTTHUMP00000199403;OTTHUMP00000199404;OTTHUMP00000199405;OTTHUMP00000199406;cerebroside (3'-phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase;cerebroside sulfotransferase;galactosylceramide sulfotransferase APPROVED protein-coding ENSG00000128242 HGNC:24240 03806 602300 REVIEWED 1343263 GAL3ST3 galactose-3-O-sulfotransferase 3 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the 3' position of galactose in N-acetyllactosamine in both type 2 (Gal-beta-1-4GlcNAc-R) oligosaccharides and core-2-branched O-glycans, but not on type 1 or core-1-branched structures. This gene, which has also been referred to as GAL3ST2, is different from the GAL3ST2 gene located on chromosome 2 that encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 3. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 63132938 63141353 - 65808236 65816651 - 66040765 66049180 - 1580863;6480464 10815989;11323440;11333265;11356829;12477932;14701868;15489334;21926972;8889548 89792 Q96A11 AB053232;ABBA01024092;AMYH02024970;AP006287;AY026481;BC113552;BC113554;BM673570;CH471076;NM_033036 AAI13553;AAI13555;AAK01945;BAB61900;EAW74490;NP_149025;Q96A11 Hs.208343 1739965;1852823 D11S4064;D11S4418 GAL3ST-3;GAL3ST2;MGC142112;MGC142114 OTTHUMP00000233985;beta-galactose-3-O-sulfotransferase 3;gal-beta-1, 3-GalNAc 3'-sulfotransferase 3;galactose 3'-sulfotransferase;galbeta1-3GalNAc 3'-sulfotransferase 3 APPROVED protein-coding HGNC:24144 10501 608234 REVIEWED 737194 GAL galanin/GMAP prepropeptide Galanin is small neuropeptide that functions as a cellular messenger within the central and peripheral nervous systems, modulating diverse physiologic functions (Mechenthaler, 2008 [PubMed 18500643]).[supplied by OMIM, Jan 2009] 11 11 11 q13.3 65788525 65795257 + 68451983 68458643 + 68684515 68691175 + 1624341;704404;1624334;1624331;1624333;1624339;1625748;1580863;2313738;2313740;2313742;2313736;6480464 11220530;11489087;15275958;15735230;15930442;16060906;16458372;16487586;17383023;7505518 11279301;11595426;11712539;12106297;12471460;12477932;12647269;12654333;12769595;12814355;1370155;14700749;14706552;14997482;15111018;15283968;15648541;15893372;15927790;15944034;16314872;16341674;16787232;1698834;1701228;1702449;17083333;1710578;1711463;1719117;1722333;17573119;17982695;18196269;18272487;18322398;18500643;18518925;18577758;18973137;18988886;19086053;19322201;19749437;19874574;19913121;20237460;20468064;20602615;20628086;21042317;21199668;21352816;21707521;21716262;22078238;22162474;22226150;22859720;23261456;23278944;23341594;23741354;24106965;2423990;2427385;2444569;2446889;2447134;2460590;2465504;2469045;24706871;2485092;7508413;7524088;8617199;9402244;9685625;9808667;9928160 51083 P22466;Q9Y2S1 A28025;ABBA01023987;AF077047;AMYH02025022;AP003096;BC030241;BM846531;CH471076;L11144;M77140;NM_015973;XM_006718580 AAA18248;AAA60178;AAD27780;AAH30241;CAA01907;EAW74715;EAW74716;EAW74717;NP_057057;P22466;XP_006718643 Hs.278959 2180888 STS-D20836 GAL-GMAP;GALN;GLNN;GMAP;MGC40167 OTTHUMP00000237192;galanin;galanin peptides;galanin prepropeptide;galanin-message-associated peptide;galanin-related peptide 1643371 BW329_H APPROVED protein-coding ENSG00000069482 HGNC:4114 00658 137035 VALIDATED 2292466 GAGE2B G antigen 2B X p11.23 49235708 49242997 + 15489334;15772651;18179644;18669648;7544395 645037 Q13066 BX649339;NM_001098411 CAI95425;NP_001091881;Q13066 Hs.714681 CT4.2;GAGE-2;GAGE-2B;GAGE-2C;GAGE2A;GAGE2C G antigen 2A/2B;G antigen 2B/2C;G antigen 2C;OTTHUMP00000070308;cancer/testis antigen 4.2 protein-coding HGNC:31957 300726 VALIDATED 2293811 GAGE2E G antigen 2E X X X p11.23 53437864 53440313 + 49197607 49204923 + 49560886 49568208 + 10397259;12477932;15489334;15772651;16189514;18179644;9651357 26749 Q4V326 AMYH02039334;BC018052;BX649339;NM_001127200 AAH18052;CAI95421;NP_001120672;Q4V326 Hs.695911;Hs.695912 GAGE-2E;GAGE8 OTTHUMP00000070311 protein-coding ENSG00000236362 HGNC:31960 06574 300736 PROVISIONAL 1351990 GAL3ST4 galactose-3-O-sulfotransferase 4 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 94492209 94501719 - 99756865 99766373 - 100159242 100168750 - 737633;6480464;8554872 12477932 11333265;12690205;14701868;14702039;15489334;15498874;16169070;19199708;23147795;8125298 79690 B4DWL8;C9IZ77;Q96RP7 ABBA01013229;ABBA01013230;ABBA01013231;AC073842;AF289575;AF316113;AK022178;AK092367;AK225890;AK301591;AL833824;AMYH02016374;AMYH02016375;BC012976;BM889458;CH236956;CH471091;NM_024637 AAH12976;AAK73365;AAL55759;BAB13977;BAG52541;BAG63080;CAD38686;EAL23847;EAW76575;EAW76577;EAW76579;NP_078913;Q96RP7 Hs.44856 5109281 D1S1425 FLJ12116;GAL3ST-4 OTTHUMP00000206869;OTTHUMP00000206900;beta-galactose-3-O-sulfotransferase 4;beta-galactose-3-O-sulfotransferase, 4;gal-beta-1,3-GalNAc 3'-sulfotransferase;galbeta1-3GalNAc 3'-sulfotransferase APPROVED protein-coding ENSG00000197093 HGNC:24145 12195 608235 REVIEWED 1350990 GALM galactose mutarotase (aldose 1-epimerase) This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009] 2 2 2 p22.1 38734098 38802942 + 38893052 38961909 + 38665910 38734767 + 1580863;6480464;6907045 1192801;12477932;12753898;12923184;15026423;15489334;16344560;164654;18052213;19056867;21339755;4963341;5661008 130589 B8ZZ75;F8WB82;H7C1B5;H7C320;Q96C23 ABBA01075008;ABBA01075009;ABBA01075010;ABBA01075011;ABBA01075012;ABBA01075013;ABBA01075014;ABBA01075015;AC074366;AK291489;AMYH02003629;AMYH02003630;AMYH02003631;AY064382;AY064385;BC014916;BC019263;CH471053;DA984992;EU794611;NM_138801;U11036;XR_244925 AAA67652;AAH14916;AAH19263;AAL62475;AAL62476;AAX93101;ACJ13665;ADZ15856;BAF84178;EAX00367;NP_620156;Q96C23 Hs.435012 1340329;1700276;2110413;2182987 D2S2331;GALM__6775;RH103756;RH46052 BLOCK25;GLAT;HEL-S-63p;IBD1 OTTHUMP00000128262;aldose 1-epimerase;epididymis secretory sperm binding protein Li 63p;galactomutarotase;galactose enzyme activator APPROVED protein-coding ENSG00000143891 HGNC:24063 13559 608883 REVIEWED 1313365 GALK1 galactokinase 1 Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008] 17 17 17 q24 70344064 70351327 - 73754018 73761280 - 75757937 75765199 - 1300192;1580863;6480464;6907045;7240710;8554872;8699517 7670469 10521295;10570908;10790206;11139256;11231902;11978883;11978884;12477932;12694189;12942049;14596685;15003454;15024738;15489334;15526155;15590630;17517531;18029348;19056867;19167051;19309526;19615732;19913121;19946888;20405025;20628086;21139048;21145461;21264483;21832049;21890473;21906983;22268729;22632133;22797925;22990118;23517731;23824909;24211322;24337577;24816145;25027693;6263522;7542884;8908517 2584 K7EII7;K7ERJ9;K7ERN9;P51570;V9HWE7 ABBA01028771;ABBA01028772;AC087749;AF084935;AK130064;AK303748;AK303832;AK310203;AK314890;AK316181;AMYH02034000;BC001166;BT007005;CH471099;EU794610;L76927;NG_008079;NM_000154;U26401 AAA96147;AAB51607;AAC35849;AAH01166;AAP35651;ABW03633;ACJ13664;BAC85288;BAG37404;BAG64720;BAG64778;BAH14552;EAW89316;NP_000145;P51570 Hs.407966 1670460;1745901;1745903;2130226 GDB:681741;GDB:681744;RH18101;RH47571 GALK;GK1;HEL-S-19 epididymis secretory protein Li 19;galactokinase;galactose kinase APPROVED protein-coding ENSG00000108479 HGNC:4118 05057 230200;604313 REVIEWED 1347926 GALC galactosylceramidase This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 14 14 14 q31 68445026 68505593 - 88304164 88460009 - 87837820 87993665 - 1580863;6480464;6907045;7240710;8554872;8699517 10234611;10477434;10833326;11814461;12477932;15489334;15657896;16344560;16607461;17458901;17579360;19460752;20301334;20301416;20410102;20800603;20877624;20886637;21070211;21102463;22073273;22792062;22923054;23044012;23128233;23276707;23462331;23648065;23649392;24297913;24501781;3278379;6811701;7417782;7581365;7601472;8162701;8281145;8297359;8399327;8595408;8786069;8889548;8940268;9272171;9338580;9434153 2581 E7EPA4;G3V255;G3V4M2;G3V5E8;H0YJG8;H0YJV6;P54803 ABBA01030534;ABBA01030535;AI025909;AK294040;AK296530;AK302519;AK302683;AK302956;AL136501;AL157955;AMYH02029693;BC036518;BE501000;BQ015788;BU675449;CH471061;CK299420;D25283;D25284;D86181;DA247447;DA323070;DA332567;DB366392;DC334180;H80485;L23116;L38559;NG_011853;NM_000153;NM_001201401;NM_001201402;XR_245677 AAA16645;AAA80975;AAH36518;ABM82158;ABM85342;BAA04971;BAA04972;BAA24902;BAG57392;BAG59160;BAG63793;BAG64110;BAH13778;EAW81359;EAW81360;EAW81361;EAW81362;NP_000144;NP_001188330;NP_001188331;P54803 Hs.513439 1337956;1745291;1745293;1745297;1745299;1761079;2146342;5016544;5117701 D14S48;GDB:599283;GDB:599291;GDB:599296;GDB:599299;GDB:599311;GDB:599315;SHGC-145060;WI-9280 GALCERase;OTTHUMP00000027906;OTTHUMP00000244262;OTTHUMP00000244263;OTTHUMP00000244264;galactocerebrosidase;galactocerebroside beta-galactosidase;galactosylceramide beta-galactosidase;galactosylceraminidase APPROVED protein-coding ENSG00000054983 HGNC:4115 06057 245200;606890 REVIEWED 1348778 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010] 5 5 5 q33.2 149750055 149876200 + 153570295 153800544 + 154190735 154420984 + 1580863;6480464;6907045;8554872 12417297;12477932;14702039;15489334;18562306;19460755;20379614;20467438;21701570;23583978;23942779 55568 F2Z2M7;Q86SR1 AB078145;ABBA01026239;ABBA01026240;ABBA01026241;AC008625;AC008672;AC008675;AC010295;AF086521;AJ505950;AK023782;AK023815;AK024931;AK074132;AK127135;AL096739;AMYH02012502;BC007224;BC050333;BC072450;BC098444;BE875528;BG743249;BQ549377;BU661066;CH471062;KC877142;KC877148;NM_198321 AAH07224;AAH72450;AAH98444;AAI48616;AAI53182;BAB14676;BAB84958;BAC56890;BAG54441;CAB46378;CAD44532;EAW61639;EAW61640;EAW61641;EAW61642;EAW61643;EAW61644;NP_938080;Q86SR1 Hs.631797 1336911;1658858;1665394;1671782;1682105;1688038;1688783;1780104;1780990;1785546;1849181;1857969;2116243;2129719;2149580;2155410;2157727;2159788;2176960;2180059;2185145;5016799;5019787;5037554;5093012;7186124 A008Z36;A009E08;A009U37;D5S2104;D5S497;D8S2282;G32468;G32854;RH17968;RH35943;RH36251;RH66371;RH70092;RH79696;RH79856;RH91542;RH94350;SGC34481;SHGC-154419;SHGC-154832;SHGC-52459;SHGC-58089;STS-D45606;T16113;bac5629T DKFZp586H0623;FLJ00205;FLJ11715;GalNAcT10;PPGALNACT10;PPGANTASE10;pp-GalNAc-T10 GalNAc transferase 10;OTTHUMP00000160640;OTTHUMP00000224314;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10);polypeptide N-acetylgalactosaminyltransferase 10 APPROVED protein-coding ENSG00000164574 HGNC:19873 12157 608043 REVIEWED 736264 GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008] 18 18 18 q12.1 30042460 30099740 + 33207400 33291798 + 35627436 35711834 + 1580863;6480464;6907045 12199709;12364335;12477932;12506059;12925576;14636048;15489334;15851553;16341674;16344560;16712791;17916404;18268124;18987618;19322201;19460755;19487295;19524017;19946888;20142253;20498016;21349845;21906983;22042768;22183981;23317233;24223155;2681181;7592619;8663203;8690719;8727794;8889548;9050910;9295285;9312074;9394011;9472029;9592121;9847074 2589 K7EJV8;K7EK46;Q05BM8;Q10472 ABBA01022443;AC090220;AC090229;AJ505952;AK293062;AMYH02034555;AMYH02034556;AP001394;BC038440;BC047746;BM668856;BM838102;CB164572;CH471088;CK431238;DA991281;DN996147;NM_020474;S82597;U41514;X85018;XM_005258239;Y10343 AAC50327;AAD14406;AAH38440;AAH47746;BAF85751;CAA59380;CAD44535;EAX01359;EAX01360;NP_065207;Q10472;XP_005258296 Hs.514806 1680882;1683986;1783756;2148488;2171810;5491774 GALNT1;RH26624;RH47238;SHGC-172607;SHGC-34319;WI-11862 GALNAC-T1 GalNAc transferase 1;OTTHUMP00000163385;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1);polypeptide GalNAc transferase 1;pp-GaNTase 1;protein-UDP acetylgalactosaminyltransferase 1 APPROVED protein-coding ENSG00000141429 HGNC:4123 03781 602273 REVIEWED 1318611 GALK2 galactokinase 2 This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014] 15 15 15 q21.1-q21.2 26341552 26515592 + 49447974 49659955 + 49155759 49367758 + 1580863;6480464;6907045;8554872 12477932;1438294;14702039;15489334;16006554;19874134;21890473;21906983;21963094;24816145;7542884;8702831;8798585 2585 B3KUV8;B4DW43;B7ZAX5;H0YK10;H0YK30;H0YLF9;H0YLK3;H0YLL3;H0YLL8;H0YM44;H0YML1;H0YN31;H0YN87;H0YND3;H0YNR7;Q01415 ABBA01039127;ABBA01039128;ABBA01039129;ABBA01039130;AC013452;AC022306;AC036102;AF461816;AK098049;AK301361;AK316440;AL832745;AMYH02030392;AMYH02030393;AMYH02030394;BC005141;BI766538;BQ921903;BT006901;BX096260;BX455251;CA841825;CH471082;DB457948;DC298656;DC390737;EB386877;M84443;NM_001001556;NM_001289030;NM_001289031;NM_002044;XM_005254279;XM_005254280;XM_005254284;XM_006720461;XM_006720462;XM_006720463;XM_006720464 AAA58612;AAH05141;AAP35547;AAP97708;ABM84668;ABM92200;BAG53570;BAG62905;BAH14811;EAW77367;NP_001001556;NP_001275959;NP_001275960;NP_002035;Q01415;XP_005254336;XP_005254337;XP_005254341;XP_006720524;XP_006720525;XP_006720526;XP_006720527 Hs.122006;Hs.738080;Hs.738534 1337659;1657113;1727847;5022588 D15S119;D5S1597E;G63339;RH66841 GK2;MGC1745 N-acetylgalactosamine kinase;galNAc kinase APPROVED protein-coding HGNC:4119 00657 137028 REVIEWED 1346736 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 ENCODES a protein that exhibits Notch binding; polypeptide N-acetylgalactosaminyltransferase activity; INVOLVED IN protein O-linked glycosylation via threonine; cilium morphogenesis (ortholog); determination of left/right symmetry (ortholog); PARTICIPATES IN O-linked glycan biosynthetic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene; cyclosporin A 7 7 7 q36.1 146280345 146376985 + 151722774 151819427 + 152025693 152122342 + 1580863;6480464;6907045;8554872 11925450;12477932;12690205;12853948;14702039;15146197;15489334;16344560;20422447;20547088;24076351;24250222;9847074 63917 B7Z3L9;B7Z5G5;C9J111;C9J8A7;C9JMT8;C9JPR8;C9K0N9;H7BZL5;Q8NCW6 AACC02000108;ABBA01035141;ABBA01035142;AC006017;AK025287;AK026056;AK124934;AK128545;AK296097;AK298911;AMYH02017081;AMYH02017082;AMYH02017083;AX461608;BC059377;CH471173;CN309655;DA308896;DA748534;NM_022087;XM_006716082;XM_006716083;XM_006716084;Y12434 AAD45821;AAH59377;AAI67834;BAB15105;BAB15338;BAG54116;BAH12255;BAH12901;CAC79625;CAD38481;EAL24518;EAW53975;EAW53976;NP_071370;Q8NCW6;XP_006716145;XP_006716146;XP_006716147 Hs.647109 1677620;2138755;2141425;2173876;2185186 GDB:1318170;GDB:1318384;RH45229;RH93046;SHGC-30134 FLJ21634;GALNAC-T11;GALNACT11;MGC71630 :polypeptide N-acetylgalactosaminyltransferase 11;OTTHUMP00000211837;OTTHUMP00000211839;OTTHUMP00000211841;OTTHUMP00000211842;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11);polypeptide GalNAc transferase 11;pp-GaNTase 11;protein-UDP acetylgalactosaminyltransferase 11 APPROVED protein-coding ENSG00000178234 HGNC:19875 13560 615130 VALIDATED 731643 GAK cyclin G associated kinase In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 p16 750124 863080 - 843065 926174 - 849277 932390 - 1580863;1300048;6480464;8554872 10625686;10887964;11148137;12010461;12477932;12732633;14702039;14968112;15240878;15489334;15752756;16161052;16169070;16189514;16344560;16895969;17538018;18029348;18985386;19371378;19654208;19946888;20237935;20711177;20881269;21044948;21058943;21258085;21292315;21738487;21832049;21906983;22190034;22198721;22262175;22438815;22505724;22645275;23591012;23618683;23826309;24250222;24438162;24510904;24639526;24816145;9013862;9299234 2580 B4DS37;D6RAQ7;D6RAW3;D6RC24;D6RE78;D6RF16;H0Y8H5;H0Y9M4;H0YA39;O14976 AB208854;ABBA01019345;ABBA01019346;AC019103;AC139887;AK097714;AK126735;AK127351;AK131464;AK299554;AK309413;AMYH02008562;AMYH02008563;BC000816;BC001290;BC008668;BC063606;BC085005;BC107076;BT007015;CH471131;D88435;DA680073;NM_001286833;NM_005255;XM_005272268;XM_005272269;XM_005272270;XM_005272272;XM_005272273;XM_006713874 AAH00816;AAH08668;AAH63606;AAH85005;AAI07077;AAP35661;BAA22623;BAC86662;BAD18609;BAD92091;BAG53518;BAG61499;EAW82644;EAW82645;EAW82646;NP_001273762;NP_005246;O14976;XP_005272325;XP_005272326;XP_005272327;XP_005272329;XP_005272330;XP_006713937 Hs.369607 1761703;2107133;2160419;2165490;5015404;5016478;5021872;5493029 GAK__6772;GDB:434012;L17705;SHGC-145680;SHGC-68043;UniSTS:483844;WI-20233;sY3084 DNAJ26;DNAJC26;FLJ16629;FLJ40395;MGC99654 OTTHUMP00000147520;OTTHUMP00000217314;auxilin-2;cyclin-G-associated kinase APPROVED protein-coding ENSG00000178950 HGNC:4113 03631 602052 VALIDATED 1343318 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004] 2 2 2 q24.1 148342630 148924907 + 154728426 155310489 + 153732809 154453977 + 1302747;1580863;6480464;6907045;8554872 12407114 11329013;11572484;12477932;14702039;15146197;15231747;15815621;17903295;18649358;20379614;21145461;21658281;22679008;23251661;23720494;24038392;24124411;24348519;24722188;9847074 114805 C9JLI4;H7BZG2;H7BZU4;H7C0T6;H7C2I5;Q8IUC8 AB067505;AB078142;ABBA01004807;ABBA01004808;ABBA01004809;ABBA01004810;ABBA01004811;ABBA01004812;ABBA01004813;ABBA01004814;ABBA01004815;AC008166;AC009227;AC009297;AC092584;AC092589;AC133107;AJ505991;AK123152;AK131195;AK308675;AMYH02005010;AMYH02005011;AMYH02005012;AMYH02005013;AMYH02005014;AMYH02005015;AMYH02005016;BC101031;BC101032;BC101033;BC101034;BG221433;CH471058;CN267103;CQ816246;HY107944;KF510766;KJ534843;KJ535058;NM_001301627;NM_052917;R38990;XM_005246267;XM_006712230 AAF19246;AAI01032;AAI01033;AAI01034;AAI01035;AHW56483;AHW56697;BAB67811;BAC54545;BAC85542;BAG54747;CAD44533;CAG32964;EAX11464;EAX11465;NP_001288556;NP_443149;Q8IUC8;XP_005246324;XP_006712293 Hs.470277 1336432;1644267;1646512;1656713;1664579;1665803;1695932;1708476;1712927;1734946;1751985;1848873;2110415;2128452;2129752;2172470;2174680;5093690;7185141 1782;D2S1704E;D2S2509;D2S252;D2S2705;D2S321;G09448;G09811;G32866;GALNT13__6778;RH120553;RH18343;RH48167;RH65494;SGC30421;SHGC-105985;SHGC-78888;SHGC-85026 FLJ16031;FLJ41157;GalNAc-T13;H_NH0187G20.1;KIAA1918;MGC119459;MGC119461;WUGSC:H_NH0187G20.1 GalNAc transferase 13;OTTHUMP00000162746;OTTHUMP00000204478;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 13;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13);polypeptide GalNAc transferase 13;pp-GaNTase 13;protein-UDP acetylgalactosaminyltransferase 13 APPROVED protein-coding ENSG00000144278 HGNC:23242 16325 608369 VALIDATED 1343157 GALNS galactosamine (N-acetyl)-6-sulfatase This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 73948779 73991965 - 88880142 88923374 - 88813734 88856966 - 1580863;6480464;7240710;8554872;8699517 10814710;11524742;12442278;12477932;12721840;14702039;1522213;15241807;15489334;15962010;16287098;16344560;16378744;17544310;1755850;17876718;1794986;18285341;18710657;19373925;19394256;1953646;20379614;20574428;21251309;22078177;22940367;23313879;23401410;23844448;23876334;24035930;4218100;6224421;7575473;7581409;7633425;7668283;7795586;8001980;8020961;8325655;8434612;8651279;8826435;8889548;8910459;9298823;9375852;9521421;9660054 2588 H3BNU2;H3BP66;H3BSU9;H3BV24;P34059;Q6MZF5;Q6YL38;Q96I49 ABBA01013587;ABBA01013588;AC092384;AK021488;AK124834;AK131096;AK294390;AK308269;AK310392;AK312655;AMYH02032647;AMYH02032648;AY129021;BC007825;BC018027;BC050684;BC056151;BC109229;BX649181;CH471184;CK301132;D17629;DA010361;NG_008667;NM_000512;U06088;XM_005256301;XM_005256302;XM_005256303 AAC51350;AAH07825;AAH50684;AAH56151;AAM98764;BAA04535;BAB13833;BAC85146;BAG35538;BAH11753;CAE46199;EAW66757;EAW66758;EAW66759;NP_000503;P34059;XP_005256358;XP_005256359;XP_005256360 Hs.271383 1662056;1678581;1698332;1744753;1744755;1744757;1744759;1745385;2132119;5020881;5020948;5022425;5037552;5117126;5117144 D22S296;D8S2279;G35510;GDB:437737;GDB:438959;GDB:556702;GDB:556706;GDB:556709;GDB:556712;GDB:603988;L17709;RH102707;RH71162;RH91120;SHGC-61140 FLJ17434;FLJ42844;FLJ98217;GALNAC6S;GAS;GalN6S;MPS4A N-acetylgalactosamine-6-sulfatase;N-acetylgalactosamine-6-sulfate sulfatase;OTTHUMP00000175193;chondroitinase;chondroitinsulfatase;galNAc6S sulfatase;galactosamine (N-acetyl)-6-sulfate sulfatase;galactose-6-sulfate sulfatase APPROVED protein-coding ENSG00000141012 HGNC:4122 08357 253000;612222 REVIEWED 733015 GALE UDP-galactose-4-epimerase This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p36-p35 22451653 22456862 - 24122089 24127294 - 23795599 23800804 - 704404;6480464;6907045;7240710;8554872;8699517 10801319;11279032;11279193;12477932;14702039;15175331;15489334;15639193;15701638;16189514;16301867;16302980;16344560;16385452;16611573;16710414;18029348;18188677;19027726;19250319;19738201;21139048;21290786;21832049;21890473;21906983;21963094;21987572;22613355;23000965;23644136;23824909;24816145;25027693;477411;6408303;7305435;8295413;8593531;9326324;9538513;9700591;9973283 2582 Q14376;Q5QPP1;Q5QPP3;Q5QPP4;Q5QPP9 ABBA01059886;AF022382;AK057302;AK096127;AK307354;AK314397;AL031295;AL530475;AMYH02000509;BC001273;BC050685;BC056880;BI835132;BQ437612;CH471134;DA043957;DQ233667;DQ233668;HH806482;L41668;NG_007068;NM_000403;NM_001008216;NM_001127621 AAB86498;AAC39645;AAH01273;AAH50685;ABB04109;ABB04110;ABM82679;ABM85860;BAG37021;BAG51901;CBX87741;EAW95083;EAW95084;EAW95085;EAW95086;EAW95087;EAW95088;EAW95089;EAW95090;EAW95091;EAW95092;EAW95093;NP_000394;NP_001008217;NP_001121093;Q14376 Hs.632380 1666456;1745763;1852627;2138850;2158632;2184254;2219806 D1S3295;G23097;GDB:636092;HMGCL__6576;RH68992;SHGC-12784;SHGC-74383 FLJ95174;FLJ97302;SDR1E1 OTTHUMP00000002991;OTTHUMP00000002994;OTTHUMP00000037931;UDP galactose-4'-epimerase;UDP-galactose 4-epimerase;UDP-glucose 4-epimerase;galactose-4-epimerase, UDP-;galactowaldenase;short chain dehydrogenase/reductase family 1E, member 1 APPROVED protein-coding ENSG00000117308 HGNC:4116 06092 230350;606953 REVIEWED 1347297 GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 ENCODES a protein that exhibits carbohydrate binding (inferred); metal ion binding (inferred); polypeptide N-acetylgalactosaminyltransferase activity (inferred); INVOLVED IN protein glycosylation (inferred); PARTICIPATES IN O-linked glycan biosynthetic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH arsenous acid; benzo[a]pyrene; calcitriol 11 11 11 p15.3 11418509 11767631 - 11292421 11643561 - 11270874 11622041 - 737633;6480464;6907045;8554872 12477932 14702039;15489334;18976975;19240061;20080650;20379614;22171061;22186971;22238593;22491018;23443559;8619474;9110174 374378 Q58A54;Q6P9A2 AB078147;ABBA01061144;ABBA01061145;ABBA01061146;ABBA01061147;ABBA01061148;ABBA01061149;AC023946;AC084243;AC104031;AC131935;AF131852;AJ626724;AK055111;AMYH02024333;AMYH02024334;BC037341;BC060864;CH471064;NM_198516;XM_006718224;XM_006718225 AAD20062;AAH37341;AAH60864;BAD93179;BAG51470;CAF25035;EAW68545;NP_940918;Q6P9A2;XP_006718287;XP_006718288 Hs.655152 1336500;1656348;1656610;1663120;1682239;1712569;1731245;1731269;1731279;1737063;1737223;1737693;1738035;1738037;1742507;1758449;1760345;1761877;1761967;1782350;1782354;1790301;2121009;2144420;5020181 CSNK2A1;D11S2599;D11S2815;D11S3087;D11S3296;D11S3654;D11S3656;D11S4189;D11S475;D11S587;D11S688;GDB:197832;RH10988;RH94211;SHGC-141808;SHGC-141921;SHGC-145822;SHGC-145899;SHGC-147253;SHGC-148258;SHGC-148377;STS-M78020;U51866;WI-15173;WI-16945 GALNACT18;GALNT15;GALNTL4;GalNAc-T15;GalNAc-T18;MGC71806 GalNAc-transferase 18;OTTHUMP00000230779;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4;galNAc-T-like protein 4;polypeptide GalNAc transferase 18;polypeptide GalNAc transferase-like protein 4;polypeptide N-acetylgalactosaminyltransferase-like protein 4;pp-GaNTase-like protein 4;protein-UDP acetylgalactosaminyltransferase-like protein 4;putative polypeptide N-acetylgalactosaminyltransferase-like protein 4 APPROVED protein-coding ENSG00000110328 HGNC:30488 13564 615136 VALIDATED 1323692 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011] 9 9 9 q22.33 72083823 72126201 + 101569981 101612363 + 98807699 98850081 + 1580863;6480464;6907045;7240710;8554872 12135769;12477932;14702039;15164053;15489334;15557789;19617566;21832049;22461326;24038392;24115450;24816145;8889548 79695 Q68VJ1;Q8IXK2 AB040673;AB078146;ABBA01042906;ABBA01042907;AJ132365;AJ505963;AK024865;AL136084;AMYH02021326;AMYH02021327;BC013945;CB243715;CH471105;CQ816242;NG_028218;NM_024642;XM_006717287 AAH13945;AAI48410;AAI48740;BAB15027;BAC07181;BAD93346;CAC80100;CAD44541;CAG32962;EAW58897;NP_078918;Q8IXK2;XP_006717350 Hs.47099 1668901;1756437;1757097 RH48142;SHGC-143423;SHGC-144486 CRCS1;FLJ21212;GalNAc-T12 OTTHUMP00000021781;UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12);colorectal cancer, susceptibility to 1;polypeptide GalNAc transferase 12;pp-GaNTase 12;protein-UDP acetylgalactosaminyltransferase 12 APPROVED protein-coding ENSG00000119514 HGNC:19877 13561 608812;610290 REVIEWED 1312992 GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ENCODES a protein that exhibits carbohydrate binding (inferred); metal ion binding (inferred); polypeptide N-acetylgalactosaminyltransferase activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); O-glycan processing (inferred); post-translational protein modification (inferred); PARTICIPATES IN O-linked glycan biosynthetic pathway; FOUND IN transport vesicle; INTERACTS WITH bisphenol A; carmustine; temozolomide 3 3 3 p25.1 16155150 16210189 + 16216086 16286033 + 16174579 16244524 + 6480464;6907045 11076863;11230166;11256614;11597177;12477932;12975309;14702039;15147861;15489336;16381901;20800603;21988832 117248 B3KT16;C9JGI4;H7BZD6;Q8N3T1 AB078149;ABBA01025131;ABBA01025132;AC087858;AC090953;AF361251;AJ505964;AK094780;AK312425;AL831925;AL832575;AL832736;AMYH02006340;AMYH02006341;AY035399;AY358443;BC014789;BC030625;CH471055;CQ816244;CS300693;NM_054110;XM_005264851;XM_005264852;XM_005264853 AAH14789;AAH30625;AAK48940;AAK63127;AAQ88808;ABM81979;ABM85158;BAD29961;BAG35335;BAG52928;CAD38585;CAD44542;CAD89983;CAG32963;CAK32357;CAL37699;CAL38199;EAW64266;EAW64267;NP_473451;Q8N3T1;XP_005264908;XP_005264909;XP_005264910 Hs.411308 2110419;2118285;2127784;5024761 D3S2431;D3S3472;GALNTL2__6783;RH36905 DKFZp686H1113;GALNACT15;GALNT13;GALNT7;GALNTL2;PIH5;pp-GalNAc-T15 OTTHUMP00000210949;OTTHUMP00000211022;UDP-GalNAc transferase T15;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 2;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2;galNAc-T-like protein 2;polypeptide GalNAc transferase 15;polypeptide GalNAc transferase-like protein 2;polypeptide N-acetylgalactosaminyltransferase 13;polypeptide N-acetylgalactosaminyltransferase-like protein 2;pp-GaNTase-like protein 2;pregnancy-induced hypertension syndrome-related protein 5;protein-UDP acetylgalactosaminyltransferase-like protein 2 APPROVED protein-coding ENSG00000131386 HGNC:21531 13563 615131 VALIDATED 1320757 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 2 2 2 p23.1 30976434 31204286 - 31133331 31361592 - 30910465 31138726 - 6480464;6907045;8554872 12477932;12507512;12975309;14702039;15489334;16344560;17434446;19805900;20179215;20356418;20379614;20800603;22174851;22441125;23959947;8125298 79623 H7C168;H7C1E3;J3KQQ5;Q96FL9 AB078144;ABBA01074850;ABBA01074851;ABBA01074852;AC009301;AC009305;AC015980;AJ505966;AK022753;AK074394;AK091313;AK122747;AK225808;AK298735;AK309417;AMYH02003520;AMYH02003521;AMYH02003522;AMYH02003523;AY358758;BC006269;BC010659;CH471053;DA752701;HH961860;NM_001253826;NM_001253827;NM_024572;NR_045602;Y09324 AAH06269;AAH10659;AAQ89118;AAX88899;AAX93209;AAY24301;ADZ15449;BAB14227;BAC03634;BAC56889;BAG53701;BAH12861;CAA70505;CAD44543;CBX51403;EAX00486;EAX00487;EAX00488;EAX00489;NP_001240755;NP_001240756;NP_078848;Q96FL9 Hs.468058 1335793;1337689;1665857;1695542;1695708;1717011;1751797;1788922;1789276;1789278;1789280;1854226;2107135;2181970;7185310 D2S2255;D2S400;G29160;G67794;G67940;G67941;G67942;GALNT14__6779;RH12321;RH124052;RH65587;SHGC-105824;SHGC-68705;SHGC-82611 FLJ12691;FLJ13977;GALNT15;GalNac-T10;GalNac-T14 OTTHUMP00000082713;OTTHUMP00000082714;OTTHUMP00000082715;OTTHUMP00000201067;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T10;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T14;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14);polypeptide GalNAc transferase 14;polypeptide N-acetylgalactosaminyltransferase 15;pp-GaNTase 14;protein-UDP acetylgalactosaminyltransferase 14 APPROVED protein-coding ENSG00000158089 HGNC:22946 12194 608225 VALIDATED 1345094 GALNT4 polypeptide N-acetylgalactosaminyltransferase 4 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010] 12 12 12 q21.33 89584860 89590206 - 89913189 89918583 - 89519412 89524806 - 6480464;6907045 10737800;10984485;12473113;12477932;12506059;12754287;15489334;16344560;17215257;18259693;18826381;19199708;19294005;19322201;23708057;9592121;9804815 8693 Q8N4A0 ABBA01053417;AC010201;AC025034;AK026150;AK026438;AK312870;AMYH02026904;AW835269;BC036390;CH471054;CR739813;DA109687;KF455691;NM_003774;Y08564 AAH36390;ABM82610;ABM85795;ABM87830;ABW03407;BAG35722;CAA69875;EAW97428;NP_003765;Q8N4A0 Hs.25130 2108109;2173078;5014051;5021872;5022651;5037552 D11S2921;D8S2278;D8S2279;GALNT4_8847;SHGC-36408;sY3084 FLJ93314;GALNAC-T4;GalNAcT4;pp-GaNTase 4 GalNAc transferase 4;OTTHUMP00000232520;UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 4;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 4;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4);polypeptide GalNAc transferase 4;protein-UDP acetylgalactosaminyltransferase 4 APPROVED protein-coding ENSG00000257594 HGNC:4126 09152 603565 REVIEWED 1321743 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 1 1 1 q41-q42 203468796 203683606 + 230202956 230417875 + 230067209 230282129 + 1580863;6480464;6907045;8554872 12438318;12477932;12506059;12754287;12925576;14702039;15489334;16434399;16710414;18029348;18193043;18193044;18596051;18987386;19060906;19148283;19460755;19487539;19656773;19913121;19946888;20158509;20160193;20167577;20379614;20430392;20570916;20571754;20628086;20679960;20686565;20864672;21139048;21651894;21699783;21906983;21933382;21963094;21990321;22152306;22399527;22418572;22916037;22939629;22952570;22992780;23117232;23303382;23620142;23894607;23912186;24097068;7592619;8663203;8889549;9295285;9312074;9394011;9442070;9592121;9852147 2590 B7Z6K2;G3V1S6;Q10471 ABBA01007320;ABBA01007321;ABBA01007322;ABBA01007323;AK025845;AK056187;AK098468;AK290048;AK296886;AK300453;AK304029;AL078646;AL117349;AL136988;AMYH02002877;BC041120;BC050583;BE328743;BF727269;BG773173;CH471098;FJ515852;KF510718;N53765;NG_011854;NM_001291866;NM_004481;NR_120373;X85019;Y10344 AAH41120;ACS13744;BAF82737;BAH12448;BAH13288;BAH14094;CAA59381;EAW69908;EAW69909;EAW69910;EAW69911;NP_001278795;NP_004472;Q10471 Hs.743964 1655454;1692060;1704132;1739401;1769305;1849953;2121261;2121263;2130321;2138086 A001V25;AL009628;AL009748;AL034013;D13S1146E;G19686;RH12675;RH18350;RH64521;SHGC-79753 GalNAc-T2 OTTHUMP00000035893;UDP-GalNAc transferase 2;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2);polypeptide GalNAc transferase 2;pp-GaNTase 2;protein-UDP acetylgalactosaminyltransferase 2 APPROVED protein-coding ENSG00000143641 HGNC:4124 03782 602274 REVIEWED 1321517 GALNT6 polypeptide N-acetylgalactosaminyltransferase 6 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008] 12 12 12 q13 50547314 50586667 - 51745654 51785739 - 51351870 51391955 - 1580863;6480464;6907045;8554872 10464263;12477932;12506059;14702039;15489334;16303743;16344560;18854599;19287074;20379614;21472136;21988832;8125298 11226 Q8NCL4;S4R310;S4R345;S4R355;S4R370;S4R396;S4R3A9;S4R3L4;S4R3M3;S4R3S5 AB265820;ABBA01031611;AC046135;AK025961;AK074658;AK092496;AK296852;AMYH02026485;BC035822;BC114505;BC114949;CH471111;CS501500;DB001644;NM_007210;XM_005268607;XM_005268608;XM_006719214;Y08565 AAH35822;AAI14506;ABM82150;ABM85333;BAB15297;BAC11118;BAG52560;BAG59418;BAJ10977;CAA69876;CAM83953;EAW58190;NP_009141;Q8NCL4;XP_005268664;XP_005268665;XP_006719277 Hs.505575 1644982;1716225;1768365;1794228;1794230;1794232;1794234;2152473;5014063;5015861;5016675;5016781;5020988;5022450;7185938 D10S16;D10S275;D15S1390;D22S958;PMC310830P32;PMC310830P34;PMC310830P35;PMC310830P36;RH121139;RH45854;RH79740;SGC38117;SHGC-67307;WI-11703 GALNAC-T6;GalNAcT6 GalNAc transferase 6;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 6;UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 6;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6);polypeptide GalNAc transferase 6;pp-GaNTase 6;protein-UDP acetylgalactosaminyltransferase 6 APPROVED protein-coding ENSG00000139629 HGNC:4128 05512 605148 REVIEWED 1347952 GALNT7 polypeptide N-acetylgalactosaminyltransferase 7 This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008] 4 4 4 q31.1 171415030 171570230 + 174089904 174245118 + 173168753 173323967 + 6480464;6907045 10544240;12477932;14702039;15489334;16303743;16344560;19844573;19946888;20467438;21741600;21963094;21988832;22399294;9847074 51809 E9PBY3;H0YAH3;H0YAK0;Q86SF2 ABBA01070371;ABBA01070372;AC097534;AC098596;AC105285;AJ002744;AJ505958;AK128437;AK295509;AMYH02010515;AMYH02010516;BC020541;BC035303;BC046129;BC047468;CH471056;CS051319;DB238519;NM_017423;XM_005263062 AAH35303;AAH46129;AAH47468;AAY41020;ADZ16052;BAG58426;CAB60270;CAD44538;CAI72154;EAX04761;NP_059119;Q86SF2;XP_005263119 Hs.548088 1683030;2125683;2146912;2151645;2170257;2175367 AFMB033ZH5;D4S821;G01817;RH94368;SHGC-44701;SHGC-67803 GALNAC-T7;GalNAcT7 N-acetylgalactosaminyltransferase 7;OTTHUMP00000219050;OTTHUMP00000219051;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7);polypeptide GalNAc transferase 7;pp-GaNTase 7;protein-UDP acetylgalactosaminyltransferase 7 APPROVED protein-coding ENSG00000109586 HGNC:4129 10386 605005 REVIEWED 1350587 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008] 12 12 12 p13.3 6451758 6503719 + 4829752 4881892 + 4720586 4772726 + 1580863;6907045;6480464;8554872 10767557;12438318;12477932;20800603;23034592;24038392 26290 H0YFU9;H0YGU9;Q9NY28 ABBA01048762;ABBA01048763;AC005833;AJ271385;AJ505959;AMYH02025929;AMYH02025930;BC140888;BC140889;CH471116;NM_017417 AAI40889;AAI40890;CAB89199;CAD44539;EAW88835;NP_059113;Q9NY28 Hs.511985 FLJ17364;GALNAC-T8 GalNAc transferase 8;OTTHUMP00000232121;UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 8;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8);polypeptide GalNAc transferase 8;pp-GaNTase 8;probable polypeptide N-acetylgalactosaminyltransferase 8;protein-UDP acetylgalactosaminyltransferase 8 APPROVED protein-coding ENSG00000130035 HGNC:4130 09374 606250 REVIEWED 737016 GALNT5 polypeptide N-acetylgalactosaminyltransferase 5 ENCODES a protein that exhibits polypeptide N-acetylgalactosaminyltransferase activity; INVOLVED IN cellular protein metabolic process (inferred); glycosaminoglycan biosynthetic process (inferred); O-glycan processing (inferred); PARTICIPATES IN O-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH 4-aminopyridine (ortholog); ammonium chloride (ortholog); dexamethasone (ortholog) 2 2 2 q24.1 151727502 151781057 + 158114340 158167913 + 157257828 157311401 + 1580863;6480464;6907045;8554872 10545594;12477932;17203973;24619076 11227 Q7Z7M9 ABBA01004843;AC016732;AF154107;AJ245539;AJ505956;AK292154;AMYH02005042;AMYH02005043;AY277591;BC142676;BC142703;BC144211;CH471058;NM_014568 AAF15313;AAI42677;AAI42704;AAP34404;BAF84843;CAB65104;CAD44537;EAX11449;NP_055383;Q7Z7M9 Hs.269027 1673832;1687187;1731945;1754639;2146637;2183208 D2S419;RH68879;RH94272;SHGC-132987;SHGC-33719;SHGC-58330 GALNAC-T5;GALNACT5;MGC165041 OTTHUMP00000162804;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5);polypeptide GalNAc transferase 5;pp-GaNTase 5;protein-UDP acetylgalactosaminyltransferase 5 APPROVED protein-coding HGNC:4127 09970 615129 PROVISIONAL 2301498 GALNTL6 polypeptide N-acetylgalactosaminyltransferase-like 6 ENCODES a protein that exhibits carbohydrate binding (inferred); metal ion binding (inferred); polypeptide N-acetylgalactosaminyltransferase activity (inferred); INVOLVED IN protein glycosylation (inferred); PARTICIPATES IN O-linked glycan biosynthetic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 q34.1 170062968 171286585 + 172734575 173961559 + 171813424 173040408 + 6480464;6907045;8554872 12477932;14702039;18519826;20379614;20977886 442117 D6RCP4;E5D8G0;Q49A17 ABBA01070359;ABBA01070360;ABBA01070361;ABBA01070362;ABBA01070363;ABBA01070364;ABBA01070365;ABBA01070366;ABBA01070367;ABBA01070368;AC024706;AC025561;AC025821;AC093803;AC095045;AC095063;AC097496;AC108064;AC110081;AC110776;AC131952;AJ626725;AK124240;AK295464;AMYH02010502;AMYH02010503;AMYH02010504;AMYH02010505;AMYH02010506;AMYH02010507;AMYH02010508;AMYH02010509;AMYH02010510;AMYH02010511;AMYH02010512;AMYH02010513;AMYH02010514;AMYH02010515;BC044793;BC047551;BC063015;BX108658;CH471056;GU220060;NM_001034845 AAH47551;ADP69004;BAG58396;CAF25036;EAX04762;NP_001030017;Q49A17 Hs.386236 1338137;1339585;1341844;1645801;1653339;1659992;1695760;1708026;1708122;1715117;1724763;1727069;1743005;1760005;1773372;1776275;1777180;1848458;1848748;2117134;2118403;2120004;2124373;2131091;2134179;2137219;2137648;2145554;2150419;2152795;2154388;2159464;2170209;2170717;2181165;7185472;7185669 A008X29;AFMA183XE9;D15S184;D1S1187;D4S1001;D4S1068;D4S1078;D4S1162;D4S2328;D4S612;D4S621;D4S622;D4S945;G16727;G16814;G16816;G33762;G33873;G62936;GDB:229343;RH119511;RH122588;SHGC-105269;SHGC-12082;SHGC-24215;SHGC-36064;SHGC-50373;SHGC-50730;SHGC-51544;SHGC-60068;SHGC-78752;SHGC-81371;SHGC-81461;SHGC4-1560;WI-21847 GALNACT20;GALNT17;GalNAc-T6L;MGC44629;galNAc-T17 GaNTase 17;GalNAc transferase 17;OTTHUMP00000219021;OTTHUMP00000219023;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 20;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6;polypeptide GalNAc transferase 17;polypeptide GalNAc transferase-like 6;pp-GaNTase 17;protein-UDP acetylgalactosaminyltransferase 17;putative polypeptide N-acetylgalactosaminyltransferase 17 APPROVED protein-coding HGNC:33844 615138 VALIDATED 1320965 GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 ENCODES a protein that exhibits carbohydrate binding (inferred); metal ion binding (inferred); polypeptide N-acetylgalactosaminyltransferase activity (inferred); INVOLVED IN protein glycosylation (inferred); PARTICIPATES IN O-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; methylmercury chloride; valproic acid 14 14 14 q24.1 49790817 49885331 + 69726681 69821190 + 69259964 69354473 + 1580863;6480464;6907045;8554872 10574461;12477932;14702039;15489334;16344560;20379614;22186971 57452 Q68VJ8;Q8N428 AB032956;AB078143;ABBA01023678;ABBA01030830;ABBA01030831;AJ505951;AK091426;AK289745;AK299588;AK315848;AL157996;AL359317;AMYH02029432;AMYH02029433;BC036812;BC098578;BC122545;BG059801;CH471061;CQ816250;DA493083;NM_001168368;NM_020692 AAH36812;AAH98578;AAI22546;BAA86444;BAD93178;BAF82434;BAF98739;BAG61521;CAD44534;CAG32966;EAW80986;EAW80987;EAW80988;NP_001161840;NP_065743;Q8N428 Hs.21035 1339702;1656617;1657354;2169293;5015861;5020740;5024695;5037552;5120425;7185938 D10S16;D8S2279;D9S757;G31447;G35669;G35705;GDB:315605;L17809;RH98158 GALNACT16;GALNTL1;GalNAc-T16;KIAA1130;MGC141855 OTTHUMP00000245507;OTTHUMP00000245508;OTTHUMP00000245509;OTTHUMP00000245510;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 1;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1;galNAc-T-like protein 1;polypeptide GalNAc transferase 16;polypeptide GalNAc transferase-like protein 1;polypeptide N-acetylgalactosaminyltransferase-like protein 1;pp-GaNTase-like protein 1;protein-UDP acetylgalactosaminyltransferase-like protein 1;putative polypeptide N-acetylgalactosaminyltransferase-like protein 1 APPROVED protein-coding HGNC:23233 13562 615132 VALIDATED 1351459 GALNTL5 polypeptide N-acetylgalactosaminyltransferase-like 5 ENCODES a protein that exhibits metal ion binding (inferred); transferase activity (inferred); INVOLVED IN spermatid development; PARTICIPATES IN O-linked glycan biosynthetic pathway; ASSOCIATED WITH Autosomal recessive inheritance (inferred); Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN endosome (inferred); integral component of membrane (inferred); INTERACTS WITH trichostatin A; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 q36.1 146211050 146274586 + 151653464 151717019 + 151956379 152019934 + 6480464;6907045;8699517;8554872 12477932;12690205;12853948;14702039;15489334;16344560;18029348;22990118;9847074 168391 D3DX14;Q7Z4T8 AACC02000108;ABBA01035142;ABBA01035143;AC006017;AC074257;AC099345;AF440400;AF440404;AK093091;AK315667;AMYH02017079;AMYH02017080;AMYH02017081;AW103179;BC022021;BC025391;CH471173;DB022678;KF459600;NM_145292;NR_033169;XM_006715862;XM_006715863 AAD45823;AAH22021;AAM20912;AAP97318;AAS07428;AAS07457;ABM81715;ABM84871;EAL24517;EAW53977;EAW53978;EAW53979;EAW53980;EAW53981;NP_660335;Q7Z4T8;XP_006715925;XP_006715926 Hs.647077 2143353;2152267;7185082 D7S1828;GDB:1317156 GALNACT19;GALNT15;GalNAc-T5L OTTHUMP00000211936;OTTHUMP00000211942;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 15;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5;galNAc-T15;inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5;polypeptide GalNAc transferase 15;polypeptide GalNAc transferase-like 5;pp-GaNTase 15;protein-UDP acetylgalactosaminyltransferase 15;putative polypeptide N-acetylgalactosaminyltransferase-like protein 5 APPROVED protein-coding ENSG00000106648 HGNC:21725 13565 615133 VALIDATED 1604259 GALP galanin-like peptide This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, may have vasoactive properties and serve as a marker for neuroblastic tumors.[provided by RefSeq, Mar 2009] 19 19 19 q13.43 53731097 53740851 + 56687389 56697144 + 56176020 56185775 + 2313737;2313739;6480464;8554872 15256810;16046316 10601261;11861493;12007540;16787232;16954604;17535903;17604107;18830724;20574532 85569 Q9UBC7 ABBA01020838;ABBA01020839;AC024580;AF188492;AF188493;AMYH02036489;AMYH02036490;AY329637;CH471135;KC877761;NG_029931;NM_001145546;NM_033106 AAF19724;AAF19725;AAI41469;AAI48723;AAQ99038;EAW72431;NP_001139018;NP_149097;Q9UBC7 Hs.283915 alarin;gal-like peptide APPROVED protein-coding ENSG00000197487 HGNC:24840 17027 611178 REVIEWED 735654 GALR1 galanin receptor 1 The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. [provided by RefSeq, Jul 2008] 18 18 18 q23 71781397 71801439 + 74962008 74982098 + 77250052 77270142 + 1625748;1580863;6480464;8554872 15930442 12477932;15767248;17083333;17982695;18385373;18577758;18973137;19047085;19086053;19913121;20171159;20201926;20398908;20468064;20628086;21430647;21796100;22859720;23251661;23727823;24706871;2834384;7524088;7534460;8617199;8670213;8825658;9168941;9367674;9425310;9808667 2587 P47211 ABBA01015292;ABBA01015293;ABBA01015294;AC100863;AMYH02035028;AY541036;BC095530;CH471117;L34339;NG_009223;NM_001480;U23854;U53511;U90658;U90660 AAA50767;AAB60356;AAC51936;AAC95397;AAH95530;AAS47032;EAW66603;NP_001471;P47211 Hs.272191 1334603;1795892 D18S1115;GALR1_324 GAL1-R;GALNR;GALNR1;GALR-1 OTTHUMP00000163778;galanin receptor type 1 APPROVED protein-coding HGNC:4132 02657 600377 REVIEWED 1315063 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008] 2 2 2 q24-q31 160214267 160260749 - 166604313 166650803 - 165747803 165794293 - 1580863;6480464;6907045;7240710;8699517;8554872 12232759;12477932;12506059;12708471;14555840;14735190;15041730;15133511;15489334;15860931;16344560;16638743;16940445;17351710;17361208;17853462;18029348;18618993;18976705;19411468;19830424;20358599;21347749;21533022;21625220;22504420;23659732;23799843;24038392;24431446;8663203;9295285;9394011;9592121;9884405 2591 C9J2C3;C9J388;C9JW45;C9JXX2;C9JY57;E7EUL0;H7BZS4;Q14435 ABBA01004921;ABBA01004922;AC009495;AJ505954;AK307391;AK313389;AMYH02005137;BC056246;BC113565;BC113567;BU567493;BX094158;BX647473;CH471058;DB098143;DB727693;NG_012069;NM_004482;X92689;XM_005246449;XM_006712402;Y10345 AAH56246;AAI13566;AAI13568;AAY14678;ADR83086;BAG36187;CAA63371;CAD44536;EAX11323;EAX11324;NP_004473;Q14435;XP_005246506;XP_006712465 Hs.170986 1338133;1754579;1846907;2106299;2110417;2129501;2140530;2165762 A004M14;D2S1313;D2S2384;D6S2748;GALNT3__6780;SHGC-132864;SHGC-53704;WI-16907 DKFZp686C10199;GalNAc-T3;HFTC;HHS;MGC61909 GalNAc transferase 3;OTTHUMP00000163020;OTTHUMP00000204915;OTTHUMP00000204919;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3);polypeptide GalNAc transferase 3;polypeptide GalNAc-transferase T3;pp-GaNTase 3;protein-UDP acetylgalactosaminyltransferase 3 APPROVED protein-coding ENSG00000115339 HGNC:4125 03453 211900;601756 REVIEWED 2293179 GAMTP1 guanidinoacetate N-methyltransferase pseudogene 1 2 2 2 q37.1 226451300 226451626 - 232674784 232675110 - 231810074 231810400 - 391491 ABBA01002038;AC013435;AC073476;AMYH02005976;NG_007653 1655636;1750801;2133770 G16361;SHGC-103670;WI-14572 GAMTP APPROVED pseudo HGNC:33982 INFERRED 733781 GALR2 galanin receptor 2 Galanin is an important neuromodulator present in the brain, gastrointestinal system, and hypothalamopituitary axis. It is a 30-amino acid non-C-terminally amidated peptide that potently stimulates growth hormone secretion, inhibits cardiac vagal slowing of heart rate, abolishes sinus arrhythmia, and inhibits postprandial gastrointestinal motility. The actions of galanin are mediated through interaction with specific membrane receptors that are members of the 7-transmembrane family of G protein-coupled receptors. GALR2 interacts with the N-terminal residues of the galanin peptide. The primary signaling mechanism for GALR2 is through the phospholipase C/protein kinase C pathway (via Gq), in contrast to GALR1, which communicates its intracellular signal by inhibition of adenylyl cyclase through Gi. However, it has been demonstrated that GALR2 couples efficiently to both the Gq and Gi proteins to simultaneously activate 2 independent signal transduction pathways. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 70664718 70667399 + 74070892 74073573 + 76074801 76077541 + 1580863;6480464 11867941;12477932;14592962;15489334;17083333;18272487;18577758;19086053;21345369;21850381;21894515;22329353;22889491;23237663;23278944;23341594;24122450;24168112;24517231;24602615;24706871;2834384;9480833;9685625;9832121;9880084 8811 O43603 ABBA01028759;AC018665;AF040630;AF042782;AF058762;AF080586;AMYH02034005;BC069130;BC074914;BC074915;BC109051;BC109052;BU631750;CH471099;EF577401;NM_003857 AAC18118;AAC36587;AAC39634;AAD08671;AAH69130;AAH74914;AAH74915;AAI09052;AAI09053;ABQ52421;EAW89364;NP_003848;O43603 Hs.666366 GAL2-R;GALNR2;GALR-2;MGC125983;MGC125984 OTTHUMP00000236026;galanin receptor type 2 2289580;2289581;2289583 BW460_H;BW461_H;BW462_H APPROVED protein-coding ENSG00000182687 HGNC:4133 04735 603691 REVIEWED 735333 GALR3 galanin receptor 3 The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior. The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways. GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq, Jul 2008] 22 22 22 q13.1 22021172 22023286 + 38219389 38221502 + 37823382 37825495 + 728648;1580863;6480464 9722565 10441207;10591208;11867941;17083333;18577758;19086053;20398908;20677014;20817064;20848231;22889491;24517231;24706871;2834384;9832121;9928159 8484 O60755 AB065934;ABBA01055488;AF067733;AF073799;AF129514;AMYH02038341;AY587582;CH471095;NM_003614;Z97630 AAC18860;AAC35944;AAD47348;AAI72236;AAS98215;BAC06149;EAW60191;NP_003605;O60755 Hs.158353 2114036 GALR3 GAL3-R;GALR-3 OTTHUMP00000198159;galanin receptor type 3;galanin receptor, family member 3 2314778 GLUCO97_H APPROVED protein-coding ENSG00000128310 HGNC:4134 04736 603692 REVIEWED 1317147 GAN gigaxonin This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008] 16 16 16 q24.1 65645867 65711100 + 81348571 81413803 + 81314966 81380198 + 1580863;6480464;7240710;8554872;8699517 11062483;11971098;12147674;12477932;12655563;14702039;15489334;15778465;15983046;16227972;16303566;17081983;17256086;17331252;17578852;17587580;18595793;19168853;19424503;19782434;19844255;20301315;20379614;20562859;21145461;21906983;22939624;23332420;23585478;23676014;9450783 8139 B3KTC3;Q9H2C0 ABBA01016966;AC009148;AC092139;AF291673;AK095378;AMYH02032508;BC016717;BC044840;CH471114;NG_009007;NM_022041 AAG35311;AAH44840;ADR82652;BAG53035;EAW95535;NP_071324;Q9H2C0 Hs.112569 1682277;1738699;1783352;2123454 D16S2809;D16S3282;RH65323;SHGC-145262 FLJ38059;GAN1;KLHL16 OTTHUMP00000174972;kelch-like family member 16;kelch-like protein 16 APPROVED protein-coding HGNC:4137 05647 256850;605379 REVIEWED 732024 GAMT guanidinoacetate N-methyltransferase The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012] 19 19 19 p13.3 1331366 1335830 - 1397025 1401569 - 1397026 1401570 - 1300048;1580863;1359082;1359081;1601275;6480464;6907045;7240710;8554872;8699517 12069495;15533043;8651275 10531498;10893433;12477932;15057824;15489334;16899382;17171576;17336114;19027335;19161160;19288536;19343046;20301334;20301745;21044950;21140503;21190923;21906983;21988832;22505724;23031365;8547310;9305847;9325156;9570966 2593 K7EM34;Q14353;V9HWB2 ABBA01002641;ABBA01002642;AC005329;AF010246;AF010247;AF010248;AF086508;AF188893;AK289465;AK297487;AMYH02035149;BC016760;BC017936;BI914772;BM994704;BT007034;CH471139;EU794612;NG_009785;NM_000156;NM_138924;Z49878 AAC27668;AAD04781;AAF01461;AAH16760;AAH17936;AAP35682;ACJ13666;BAF82154;BAG59905;CAA90035;EAW69505;EAW69506;NP_000147;NP_620279;Q14353 Hs.81131 1684509;1703202;1736496;2107137 D15S702E;GAMT__6784;RH79693;SGC31985 CCDS2;HEL-S-20;PIG2;TP53I2 epididymis secretory protein Li 20 APPROVED protein-coding ENSG00000130005 HGNC:4136 03142 601240;612736 REVIEWED 3277534 GAMTP2 guanidinoacetate N-methyltransferase pseudogene 2 13 13 13 q13.2 16215367 16215914 - 35148339 35148886 - 34574202 34574749 - 100129452 ABBA01010165;AL161716;AMYH02027848;NG_016563 pseudo HGNC:37697 INFERRED 1315126 GALT galactose-1-phosphate uridylyltransferase Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 9 9 9 p13 34578106 34582045 + 34646586 34650595 + 34646589 34650598 + 1580863;6480464;6907045;7240710;8554872;8699517 10220154;10408771;10424825;10439960;10884393;11181995;11479743;11511927;11678552;11704127;11919338;11936817;12119013;12370157;12477932;12521227;12606594;12851678;12869412;1301925;1373122;1427861;14614623;14702039;14707519;15308134;15489334;15506833;15749517;15841485;16009197;1610789;16125333;16189514;16274605;16344560;16416427;16507021;16595241;17041746;17143577;17207965;17303100;17486650;17876724;18029348;18089596;18210213;18454942;18956253;1897530;19224951;19646668;20008339;2011574;20151200;20222886;20237496;20301334;20301691;20547145;20734064;20800603;21059483;21188552;21906983;2233247;22749219;22798028;22944367;22963887;23022339;23583749;23690308;23924834;24045215;24654937;2840550;4759900;6095663;7550229;7671959;7887416;7887417;7957929;8112740;8198125;8499924;8551426;8598637;8741038;8869397;8892021;8943248;8956044;9012409;9222760;9472029;9632650 2592 B2RAT6;D3DRM8;F2Z2X9;G3V223;G3V3U5;H0YJL3;P07902 ABBA01065007;AI292159;AK096026;AK096137;AK293212;AK300070;AK303279;AK310049;AK314340;AL162231;AMYH02019452;BC015045;BI910081;BT009852;CH471071;DA011092;L46359;L46360;L46361;L46362;L46363;L46364;L46365;L46691;L46692;L46693;L46694;L46698;L46699;L46703;L46704;L46705;L46706;L46707;L46708;L46709;L46710;L46711;L46712;L46713;L46714;L46715;L46716;L46717;L46718;L46723;L48713;L48714;L48715;L48717;L48718;L48719;L48720;L48721;L48929;L48930;M60091;M96264;NG_009029;NM_000155;NM_001258332 AAA74450;AAA81539;AAA81540;AAA81541;AAA81542;AAA81543;AAA81544;AAA81545;AAA81546;AAA81547;AAA81548;AAA81549;AAA82086;AAA82088;AAB59578;AAB59584;AAB59585;AAB59586;AAB59587;AAB59588;AAB59589;AAB59590;AAB59591;AAB59592;AAB59593;AAB59594;AAB59595;AAB59596;AAB59597;AAB59598;AAB59599;AAB59600;AAB59601;AAB59602;AAB59603;AAB59604;AAB59605;AAB59606;AAB59607;AAB59608;AAB59609;AAC83409;AAH15045;AAP88854;ADQ32769;BAC04678;BAG36983;BAG53219;BAG56752;BAG61874;BAG64359;EAW58426;EAW58427;EAW58428;EAW58429;EAW58430;NP_000146;NP_001245261;P07902 Hs.522090 1666126 D9S1978 OTTHUMP00000021298;UDP-glucose--hexose-1-phosphate uridylyltransferase;gal-1-P uridylyltransferase;galactose-1-phosphate uridyl transferase APPROVED protein-coding ENSG00000213930 HGNC:4135 06106 230400;606999 REVIEWED 730980 GAP43 growth associated protein 43 The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q13.31 113750041 113848417 + 115342151 115440334 + 115623304 115721487 + 1580863;6480464;6484113;8554872 10391209;10521589;10544214;11076863;11238933;11256614;11528129;11978831;12034726;12105219;12477932;12704705;12805215;1281863;12898703;1385623;14702039;14978216;1533624;15489334;15489336;15694236;16344560;16381901;17412328;17577668;17619016;1828073;19593683;20379614;20869470;21152083;2140056;21769916;22082156;22138049;22209024;23000965;23153097;23396970;23524246;23887302;3272162;3272163;8231732;8694767;8737678;8746449;8872303;8900147;9139733;9618702;9742146;9774477;9881859 2596 P17677;Q5U058 ABBA01061623;ABBA01061624;ABBA01061625;AC012598;AC092468;AC119795;AF279774;AK123311;AK289699;AK290100;AK313658;AMYH02007465;AMYH02007466;AMYH02007467;AMYH02007468;AY842481;BC007936;BT019771;BT019810;BX648458;CH471052;DA701390;M25667;NM_001130064;NM_002045;S66533;S66534;X84309 AAA52516;AAB28649;AAH07936;AAV38576;AAV38613;AAV88094;ABM84170;ABM87573;BAF82388;BAF82789;BAG36412;CAA59050;CAL37637;CAL38386;EAW79594;NP_001123536;NP_002036;P17677 Hs.134974 1668081;1717419;1741431;1743227;1755833;1797564;2113748;2118707;2144742;2160430;2182574 G10622;GAP43;GAP43-3UUTF;GAP43_1989;GDB:181207;GDB:305514;RH122200;RH16452;SHGC-142675;WI-18969;WI-7159 B-50;PP46 OTTHUMP00000165225;OTTHUMP00000165226;axonal membrane protein GAP-43;calmodulin-binding protein P-57;growth-associated protein 43;nerve growth-related peptide GAP43;neural phosphoprotein B-50;neuromodulin;neuron growth-associated protein 43;protein F1 APPROVED protein-coding ENSG00000172020 HGNC:4140 01198 162060 REVIEWED 1625824 GAPDHL5 glyceraldehyde-3-phosphate dehydrogenase-like 5 6 6 q14.2 84535066 84536581 + 84101825 84103340 + 2793178 100093717 AL391416;NG_006133 pseudo HGNC:33506 69656 GALNT9 polypeptide N-acetylgalactosaminyltransferase 9 This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.33 132299988 132366500 - 132824460 132905905 - 132238677 132329319 - 1580863;6480464;6907045;8554872 10978536;12407114;12477932;14702039;16344560;16712791;23136245;8889548 50614 B3KNR7;F5H317;F5H557;H3BM10;J3KNN1;Q9HCQ5 AB040672;ABBA01012394;ABBA01012395;ABBA01032788;AC138466;AC148477;AC233270;AF458594;AJ505960;AK054820;AK055773;AMYH02027580;AMYH02027581;AMYH02027582;BC069354;BC093817;BC093819;BC157845;BC171844;BI760629;BM672467;BM925654;CB154648;DA206384;DA370980;DR001000;NM_001122636;NM_021808 AAH93817;AAH93819;AAI57846;AAI71844;AAM49722;ADR82874;BAB13699;BAG51429;BAG51570;CAD44540;NP_001116108;NP_068580;Q9HCQ5 Hs.301062;Hs.658249 1681233;1758159 RH91189;SHGC-147548 GALNAC-T9;GALNACT9 GalNAc transferase 9;OTTHUMP00000238404;OTTHUMP00000238406;OTTHUMP00000240468;UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 9;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 9;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9);polypeptide GalNAc transferase 9;pp-GaNTase 9;protein-UDP acetylgalactosaminyltransferase 9 APPROVED protein-coding ENSG00000182870 HGNC:4131 606251 REVIEWED 1346878 GAPDHP1 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 X X X p11.4 43783978 43784905 - 39646086 39647013 - 39786832 39787759 - 6096136;6542494 2616 ABBA01046907;AC091810;AMYH02039181;M26873;NG_001123;X01111 1702138;1791372;1791384;1791508;1791552;1791588;1792090;1792632;1794440;1795086;1795088 GDB:192506;PMC108311P2;PMC108957P1;PMC112330P1;PMC114947P1;PMC115884P2;PMC136694P1;PMC15575P1;PMC31284P2;PMC97302P2;PMC97327P1 GAPDHL2;GAPDL2;GAPDP1 pseudo HGNC:4159 INFERRED 1354051 GAPDHP15 glyceraldehyde-3-phosphate dehydrogenase pseudogene 15 6 6 6 p11.2 1141386 1142638 - 58293686 58294938 - 57967408 57968660 - 642317 ABBA01018452;AL021368;AMYH02013787;NG_006993 1756389 SHGC-143356 GAPDH-Lp;GAPDP15;b55C20.4 pseudo HGNC:13950 INFERRED 1342916 GAPDHP14 glyceraldehyde-3-phosphate dehydrogenase pseudogene 14 21 21 21 q22.11 15778031 15779243 + 30594575 30595787 + 29222254 29223466 + 10830953 54050 ABBA01057257;AF124730;AMYH02037693;NG_009356 GAPDP14 pseudo HGNC:4160 INFERRED 1351448 GAPDHP16 glyceraldehyde-3-phosphate dehydrogenase pseudogene 16 21 21 21 q11.2 1316358 1317535 + 16146624 16147801 + 14774303 14775480 + 387491 ABBA01057084;AF127936;AMYH02037521;NG_009468 GAPDP16 pseudo HGNC:23768 INFERRED 2881606 GAPDHP17 glyceraldehyde-3-phosphate dehydrogenase pseudogene 17 Y Y Y q11.221 7730216 7731378 + 23023265 23024427 + 20861379 20862541 + 12815422;9847074 360008 ABBA01057484;AC009494;NG_002925 5116302 sY2881 GAPDHP18 pseudo HGNC:37765 INFERRED 3341351 GAPDHP18 glyceraldehyde 3 phosphate dehydrogenase pseudogene 18 Y Y q11.223 7730216 7731378 + 23023265 23024427 + 12815422;9847074 340623 AC009494;NG_002923 pseudo HGNC:23948 735871 GAPDH glyceraldehyde-3-phosphate dehydrogenase This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 12 12 12 p13 8260518 8264397 + 6643585 6647537 + 6534419 6538371 + 1300048;1358618;1580863;2302795;2302804;2315975;2315979;6480464;6907045 12716756;15507493;15720133;18852331;8255543 10097256;10407144;10617673;10897012;10944468;11011077;11157717;11451542;11487543;11488911;11724794;11735259;11846445;1193541;12008025;12087577;12121569;12140138;12200519;12381782;12419855;12428732;12477932;12503091;12506084;12553051;12665801;12697324;12753082;12829261;12842090;12842822;12887926;12921788;14515148;14630908;14730345;14741744;14760703;15001839;15047060;15107835;15161933;15199064;15312048;15383276;15479637;15485821;15489334;15592455;15604093;15628863;15635413;15673432;15680915;15716040;15746184;15769908;15839736;15852347;15907785;15951807;15952740;15976103;15985219;1602151;16027165;16037232;16055720;16082386;16139273;16169070;16186172;16196087;16236267;16239728;16263121;16289162;16396496;16474839;16492755;16501887;16510976;16515701;16682416;16713569;16751257;16778134;16799092;16815975;16832079;16892178;17015754;17027006;17081983;17121833;17324518;17353931;17373842;17387692;17456004;17540579;17540725;17553795;17597534;17620599;17955473;17989880;18029348;18163542;18206965;18340469;18362144;18364388;18448829;18552833;18624398;18682386;18708368;18776186;18776667;18781797;19001379;19135240;19156129;19161537;19165527;19190083;1924305;19338310;19380743;19405953;19430704;19464723;19596686;19605696;19621076;19650766;19738201;19747091;19800890;19805454;19837666;19874799;19940145;19946888;1999197;20177150;20181627;20381070;20407807;20471030;20610654;20639865;20664973;20707929;20727968;20800603;20849852;20864222;20972425;21044950;21073742;21080425;21110914;21139048;21145461;21151833;21163940;21182205;21236242;21319273;21336310;21338575;21539808;21565611;21749859;21832049;21853274;21890473;21895736;21900206;21906983;21963094;21979951;21987572;21988832;22053931;22079093;22134915;22174317;22178446;22189680;22268729;22304920;22350014;22505724;22534308;22536838;22613203;22623428;22789853;22847419;22863883;22939629;22957700;22963082;22964641;22990118;23000965;23027902;23077236;23086952;23091630;23125841;23237566;23332158;23348613;23402259;23409959;23428871;23463506;23527007;23602568;23620736;23645209;23728617;23750785;23798571;23874603;2394733;23956138;23988223;24018444;24113185;24244333;24332808;24337577;24362262;24375405;24457600;24583282;24816145;24992036;25015289;25027693;2793178;2987855;3027061;3170585;3180054;3664468;6095107;6096136;6096821;6499844;7030790;7498159;7880402;8075252;8181459;8451199;8473906;8612237;8619474;8650074;8872471;9110174;9308888;957435;9886087 2597 E7EUT5;P04406;V9HVZ4 AB062273;ABBA01017643;AC006064;AF261085;AJ844644;AJ844645;AK026525;AK299448;AK308198;AMYH02025953;AY007133;AY340484;AY633612;BC001601;BC004109;BC009081;BC013310;BC020308;BC023632;BC025925;BC026907;BC029340;BC029618;BC083511;BE893087;BG724119;BI463134;BM763361;BT006893;BU155402;CH471116;CR407671;DQ403057;EF036498;EU668321;HQ727992;HY000136;HY004110;HY022295;HY046784;J02642;J04038;M17851;M28283;M33197;M36164;NG_007073;NM_001256799;NM_001289745;NM_001289746;NM_002046;X01677;X53778 AAA52496;AAA52518;AAA52519;AAA53191;AAA86283;AAF99678;AAG01996;AAH01601;AAH04109;AAH09081;AAH13310;AAH23632;AAH25925;AAH26907;AAH29618;AAH83511;AAP35539;AAP88932;AAV33305;ABD77190;ABM82483;ABM85670;ABO65084;ACF94474;AET97565;BAB93466;BAG61421;CAA25833;CAA37794;CAG28599;CAH59755;CAH59756;EAW88786;EAW88787;NP_001243728;NP_001276674;NP_001276675;NP_002037;P04406 Hs.544577;Hs.592355;Hs.598320 1742893;1744003;1778706;1791302;1791372;1791384;1791448;1791508;1791532;1791552;1791588;1791746;1791952;1791954;1792002;1792088;1792090;1792104;1792404;1792632;1792818;1792826;1793598;1793716;1794440;1794542;1795030;1795074;1795086;1795088;5015933;5019341;5019343;5019345;5019347;5019349;5019359;5019361;5019365;5019369;5019375;5019381;5019383;5019385;5019387;5019397;5019403;5019407;5019409;5023515;5023527;5023533;5023551;5023553;5094638;5094642;5094644;5094672;5094676;5120768;5126813;5126823;5126829;5126837;5126847;5126849 D11S4602;GDB:214822;GDB:374186;GDB:376732;GDB:384767;PMC101742P3;PMC102046P1;PMC102105P1;PMC102181P3;PMC102702P1;PMC104479P2;PMC108311P2;PMC108957P1;PMC109593P1;PMC110706P2;PMC112330P1;PMC112647P2;PMC112724P1;PMC112827P1;PMC113938P1;PMC114947P1;PMC115884P2;PMC119909P1;PMC122568P2;PMC123051P1;PMC126184P3;PMC133713P1;PMC133907P5;PMC133907P6;PMC134726P2;PMC135988P15;PMC136639P1;PMC136694P1;PMC137086P1;PMC141140P1;PMC148872P2;PMC150665P1;PMC150720P4;PMC150799P1;PMC153210P3;PMC154635P1;PMC15575P1;PMC156124P4;PMC156256P2;PMC156747P1;PMC164778P1;PMC164841P2;PMC164857P1;PMC21468P1;PMC21573P1;PMC240675P1;PMC24576P1;PMC25103P1;PMC262654P1;PMC266773P1;PMC309667P2;PMC311067P7;PMC31284P2;PMC317006P1;PMC351321P5;PMC86881P1;PMC88550P1;PMC97138P1;PMC97302P2;PMC97327P1;PMC99947P2 G3PD;GAPD;MGC88685 HEL-S-162eP;OTTHUMP00000174430;OTTHUMP00000174431;OTTHUMP00000174432;OTTHUMP00000174434;aging-associated gene 9 protein;epididymis secretory sperm binding protein Li 162eP;glyceraldehyde 3-phosphate dehydrogenase;peptidyl-cysteine S-nitrosylase GAPDH APPROVED protein-coding ENSG00000111640 HGNC:4141 00713 138400 REVIEWED 1350609 GAPDHP2 glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 20 20 20 p12.1 13443402 13444590 + 13373261 13374534 + 13392614 13393887 + 170516 ABBA01053964;AL121782;AMYH02036721;NG_001038 GAPDP2;dJ585I14.1 pseudo HGNC:16577 INFERRED 3161436 GAPDHP22 glyceraldehyde 3 phosphate dehydrogenase pseudogene 22 13 13 13 q32.3 80686394 80686806 - 99842833 99843245 - 99190579 99190991 - 390421 ABBA01027127;AL391122;AMYH02028588;NG_011332 pseudo HGNC:37774 INFERRED 1350162 GANC glucosidase, alpha; neutral C Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014] 15 15 15 q15.2 19334065 19413574 + 42566366 42646599 + 42274168 42353666 + 1300193;1580863;6480464;6907045 12370436 11076863;11530211;11752220;12434312;12477932;12560567;12719582;1352226;14675785;14702039;15489334;15489336;16381901;16547752;1678778;1704656;1736542;18215327;18314154;18330979;19588081;2076345;20800603;2136376;2187500;21906983;22082156;2283726;2355006;2541446;2542563;2649653;2825177;2829950;2959866;3099781;3135493;3264072;6362728;6369775;6994494;6995030;7030525;8093218;8218172;8416962;8673525;8794361;8794362;9109416 2595 E7EWB6;H3BMM3;H3BMW3;H3BN99;H3BPX5;H3BRQ6;H3BUE8;Q8TET4 ABBA01038378;ABBA01038379;AC012651;AC022468;AF525397;AF545045;AF545046;AK074037;AK074330;AK301467;AMYH02030282;BC059406;BC093833;BC112051;BE893238;BM999150;BQ000944;HY309614;NM_001301409;NM_001301410;NM_198141 AAH59406;AAH93833;AAI12052;AAI51224;AAN74756;AAN74757;AAO14993;BAB84863;BAG62987;CAL37469;CAL38344;NP_001288338;NP_001288339;NP_937784;Q8TET4 Hs.730806 1644501;1669128;1678283;1736724;1736754;1736756;2142210;2180172 AFM196xb8;D15S744;D15S763;D15S764;RH39468;RH48768;RH68453;WI-17962 FLJ40082;MGC138256 OTTHUMP00000161054;neutral alpha-glucosidase C APPROVED protein-coding HGNC:4139 00077 104180 REVIEWED 3498710 GAPDHP20 glyceraldehyde 3 phosphate dehydrogenase pseudogene 20 1 1 1 p35.1 31137970 31139253 - 32867494 32868784 - 32401893 32403183 - 343338 ABBA01023425;AL356986;AMYH02000711;NG_009347 pseudo HGNC:37772 INFERRED 3566505 GAPDHP19 glyceraldehyde 3 phosphate dehydrogenase pseudogene 19 Y Y Y q11.222 6282884 6284150 - 21489385 21490651 + 19327499 19328765 + 12815422 140028 ABBA01073747;AC010133;NG_002924 pseudo HGNC:23947 INFERRED 1320293 GANAB glucosidase, alpha; neutral AB ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN carbohydrate metabolic process (inferred); cellular protein metabolic process (inferred); post-translational protein modification (inferred); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; N-linked glycan biosynthetic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; arsenous acid; atrazine 11 11 11 q12.3 59721867 59743650 - 62392298 62414198 - 62624826 62646726 - 6480464;6907045;8554872 10764837;10764838;10921916;10929008;11530211;11564800;11752220;12133958;12477932;12560567;12719582;14667819;15489334;16009940;16547752;1678778;1704656;17081065;17255364;17314511;17353931;1736542;17672918;18303019;18781797;18854154;19056867;19135240;19737279;19946888;20000738;20360068;20562859;2076345;20811636;21081666;21139048;21150319;21252943;21319273;2136376;21642380;2187500;21890473;21906983;21963094;21987572;21988832;22053931;22079093;22190034;22268729;22304920;22505724;22586326;2283726;22863883;22939629;23000965;23349634;23428871;23464991;2355006;23703321;24008518;24337577;24583282;24816145;2541446;2542563;2649653;2825177;2829950;2959866;3099781;3264072;3881423;6342981;7788527;8093218;8218172;8416962;8673525;8794361;8794362;8910335;9109416;9148925 23193 B4DIW2;B4DSM6;B4DZ53;E9PKU7;E9PNH1;E9PQ69;F5H6X6;Q14697;Q9BS14;V9HWJ0 AA618561;ABBA01003230;ABBA01003231;ABBA01003232;AF144074;AF460334;AJ000332;AK026548;AK026567;AK026997;AK295806;AK299819;AK302752;AK314370;AMYH02024894;AP001458;BC005405;BC017433;BC017435;BC034439;BC065266;BG720650;CH471076;D42041;DC400833;EU794613;NM_001278192;NM_001278193;NM_001278194;NM_198334;NM_198335 AAF66685;AAH05405;AAH17433;AAH17435;AAH65266;AAM83349;ACJ13667;BAA07642;BAG58624;BAG61688;BAG63965;CAA04006;EAW74045;EAW74046;EAW74047;EAW74048;EAW74049;EAW74050;NP_001265121;NP_001265122;NP_001265123;NP_938148;NP_938149;Q14697 Hs.595071 1665337;1686180;1689817;1773335;1773663;2135332;2176415;2189495 D8S1612;HSC1GE062;IB3108;MARC_7551-7552:992008484:1;RH12054;RH25316;RH80481;WI-15094 G2AN;GlULL;GluII;HEL-S-164nA;KIAA0088 OTTHUMP00000236516;OTTHUMP00000236517;OTTHUMP00000236518;alpha glucosidase II alpha subunit;alpha-glucosidase 2;epididymis secretory sperm binding protein Li 164nA;glucosidase II subunit alpha;neutral alpha-glucosidase AB protein-coding ENSG00000089597 HGNC:4138 03516 104160 VALIDATED 3277961 GAPDHP21 glyceraldehyde 3 phosphate dehydrogenase pseudogene 21 10 10 10 q21.1 50689753 50691034 - 57426896 57428180 - 55667136 55668420 - 389970 ABBA01019413;AC069545;AMYH02023134;NG_009342 pseudo HGNC:37773 INFERRED 2902773 GAPDHP27 glyceraldehyde 3 phosphate dehydrogenase pseudogene 27 1 1 1 p12 118331907 118333200 - 120101175 120102468 - 119558552 119559845 - 401960 ABBA01068514;AL109966;AL121995;AMYH02001816;NG_009337 pseudo HGNC:37779 INFERRED 3498012 GAPDHP26 glyceraldehyde 3 phosphate dehydrogenase pseudogene 26 9 9 9 q31.1 74251505 74252654 + 103737870 103739019 + 100975588 100976737 + 392374 ABBA01042882;AL357935;AMYH02021346;NG_009355 1692784;1787116 AL033751;SHGC-155171 pseudo HGNC:37778 INFERRED 2975371 GAPDHP24 glyceraldehyde 3 phosphate dehydrogenase pseudogene 24 1 1 1 q41 188267873 188269142 + 215043899 215045269 + 214870556 214871926 + 391162 ABBA01048140;AC114496;AMYH02002668;NG_009350 pseudo HGNC:37776 INFERRED 3004820 GAPDHP23 glyceraldehyde 3 phosphate dehydrogenase pseudogene 23 1 1 1 p12 118235218 118236475 - 120004458 120005715 - 119461835 119463092 - 391075 ABBA01068514;AL359553;AMYH02001816;NG_009339 1773939 HSCZOG032 pseudo HGNC:37775 INFERRED 2923521 GAPDHP25 glyceraldehyde 3 phosphate dehydrogenase pseudogene 25 2 2 2 p22.2 38353300 38354552 + 38512482 38513753 + 38285340 38286611 + 391367 ABBA01074991;AC016995;AMYH02003621;NG_006131 1794534 PMC316856P1 pseudo HGNC:37777 INFERRED 3516598 GAPDHP33 glyceraldehyde 3 phosphate dehydrogenase pseudogene 33 1 1 1 p12 118369323 118370608 - 120138588 120139873 - 119595965 119597250 - 644237 ABBA01068515;AL109966;AMYH02001817;NG_009336 2132573 AL009514 pseudo HGNC:37785 INFERRED 2923289 GAPDHP34 glyceraldehyde 3 phosphate dehydrogenase pseudogene 34 13 13 13 q13.3 18381389 18382271 + 37314178 37315060 + 36740041 36740923 + 646877 ABBA01021355;AL136160;AMYH02027869;NG_011461 1737335;1737421;1775997 D13S933;D13S994;SHGC-9194 pseudo HGNC:37786 INFERRED 3399172 GAPDHP29 glyceraldehyde 3 phosphate dehydrogenase pseudogene 29 1 1 1 p21.3 93021214 93022471 + 94767526 94768792 + 94301970 94303236 + 441893 ABBA01045512;AC097059;AMYH02001507;NG_009349 pseudo HGNC:37781 INFERRED 2837661 GAPDHP31 glyceraldehyde 3 phosphate dehydrogenase pseudogene 31 12 12 12 p13.31 9294380 9295660 + 7718894 7720185 + 7566298 7567589 + 643739 ABBA01012201;AC131206;AMYH02025967;NG_009353 pseudo HGNC:37783 INFERRED 2947210 GAPDHP30 glyceraldehyde 3 phosphate dehydrogenase pseudogene 30 8 8 8 q22.1 93267080 93268291 - 97080743 97081959 - 96068515 96069731 - 643228 ABBA01037490;AC007992;AMYH02018452;NG_009345 pseudo HGNC:37782 INFERRED 3516599 GAPDHP32 glyceraldehyde 3 phosphate dehydrogenase pseudogene 32 1 1 1 p12 118306894 118308167 - 120076171 120077444 - 119533548 119534821 - 644213 ABBA01068514;AL121995;AMYH02001816;NG_011343 pseudo HGNC:37784 INFERRED 3457159 GAPDHP39 glyceraldehyde 3 phosphate dehydrogenase pseudogene 39 3 3 3 q22.3 136923047 136924298 + 138496602 138497853 + 138777760 138779011 + 100128589 ABBA01059083;AC117389;AMYH02007774;NG_009351 pseudo HGNC:37796 INFERRED 2881248 GAPDHP35 glyceraldehyde 3 phosphate dehydrogenase pseudogene 35 16 16 16 p11.2 27030411 27031655 - 28250803 28252048 - 28239482 28240727 - 647001 ABBA01017173;AC136611;AMYH02031776;NG_009340 pseudo HGNC:37789 INFERRED 3516427 GAPDHP40 glyceraldehyde 3 phosphate dehydrogenase pseudogene 40 5 5 5 q33.3 155408105 155409382 - 159377292 159378576 - 159950285 159951569 - 100131743 ABBA01044235;AC068657;AMYH02012590;NG_009333 2127160 D5S2442 pseudo HGNC:37797 INFERRED 3277632 GAPDHP38 glyceraldehyde 3 phosphate dehydrogenase pseudogene 38 19 19 19 q13.32 43865334 43866617 + 47061817 47063108 + 46558560 46559851 + 729493 ABBA01040980;AC011551;AMYH02036228;NG_009334 pseudo HGNC:37792 INFERRED 3418287 GAPDHP43 glyceraldehyde 3 phosphate dehydrogenase pseudogene 43 15 15 15 q15.3 21536571 21537864 + 44646806 44648104 + 44354608 44355906 + 100240708 ABBA01039211;AC090519;AMYH02030335;NG_009331 pseudo HGNC:37800 INFERRED 2837642 GAPDHP36 glyceraldehyde 3 phosphate dehydrogenase pseudogene 36 3 3 3 q26.33 178361864 178362887 + 179929978 179931001 + 180212190 180213213 + 647249 ABBA01058522;AC134503;AMYH02008233;NG_016486 1338069 D3S3603 pseudo HGNC:37790 INFERRED 3418288 GAPDHP42 glyceraldehyde 3 phosphate dehydrogenase pseudogene 42 6 6 6 q13 70844096 70845351 + 70455692 70456947 + 69745800 69747055 + 100240707 ABBA01008895;AL590702;AMYH02013869;NG_009328;NG_016012 pseudo HGNC:37799 INFERRED 3418284 GAPDHP46 glyceraldehyde 3 phosphate dehydrogenase pseudogene 46 1 1 1 p22.1 90826633 90827826 - 92580196 92581389 - 92114639 92115832 - 100240711 ABBA01045554;AC104836;AMYH02001477;NG_009348 1692784 AL033751 pseudo HGNC:37804 INFERRED 3418283 GAPDHP47 glyceraldehyde 3 phosphate dehydrogenase pseudogene 47 3 3 3 q24 141644648 141645918 - 143221916 143223186 - 143503074 143504344 - 100240712 ABBA01059013;AC116423;AMYH02007829;NG_009352;NG_017077 pseudo HGNC:37803 INFERRED 3516597 GAPDHP37 glyceraldehyde 3 phosphate dehydrogenase pseudogene 37 22 22 22 q13.2 24872963 24874196 - 41069293 41070526 - 40673289 40674522 - 651258 ABBA01055608;AMYH02038411;NG_006079;Z86090 2118598 KI-153 pseudo HGNC:37791 INFERRED 3418285 GAPDHP45 glyceraldehyde 3 phosphate dehydrogenase pseudogene 45 10 10 10 p13 15063692 15064244 - 15135060 15135612 - 15093061 15093613 - 100240710 ABBA01034600;AL590365;AMYH02022205;NG_009343 pseudo HGNC:37802 INFERRED 3418286 GAPDHP44 glyceraldehyde 3 phosphate dehydrogenase pseudogene 44 12 12 12 q14.2 62817429 62818709 + 63148933 63150213 + 62755153 62756433 + 100240709 ABBA01026629;AC025264;AMYH02026640;NG_009335 1791846;1795102 PMC128021P1;PMC97911P1 pseudo HGNC:37801 INFERRED 4110255 GAPDHP49 glyceraldehyde 3 phosphate dehydrogenase pseudogene 49 2 2 2 217136834 217137751 - 223368638 223369555 - 222503919 222504836 - 100421189 ABBA01023814;AC097461;AMYH02005859;NG_023664 1704240 SHGC-83242 pseudo HGNC:38555 INFERRED 4110228 GAPDHP51 glyceraldehyde 3 phosphate dehydrogenase pseudogene 51 1 1 1 50459347 50460355 - 52172810 52173818 - 51707138 51708146 - 100421271 ABBA01074788;AL050343;AMYH02001002;NG_026939 pseudo HGNC:38557 INFERRED 3418282 GAPDHP48 glyceraldehyde 3 phosphate dehydrogenase pseudogene 48 2 2 2 p25.3 3744453 3745727 - 3735371 3736649 - 3687781 3689059 - 100240713 ABBA01006101;AC010907;AMYH02003200;NG_009354 pseudo HGNC:37805 INFERRED 3457313 GAPDHP28 glyceraldehyde 3 phosphate dehydrogenase pseudogene 28 10 10 10 q23.32 87169980 87171251 - 93426338 93427609 - 91666581 91667852 - 441572 ABBA01021925;AL359986;AMYH02023523;NG_009344 pseudo HGNC:37780 INFERRED 4110201 GAPDHP54 glyceraldehyde 3 phosphate dehydrogenase pseudogene 54 20 20 20 42340100 42340866 + 45626350 45627116 + 46997711 46998477 + 100421319 ABBA01052688;AL121776;AMYH02037162;NG_025009 pseudo HGNC:38560 INFERRED 4110200 GAPDHP55 glyceraldehyde 3 phosphate dehydrogenase pseudogene 55 15 15 15 21245206 21246008 + 44355709 44356511 + 44063511 44064313 + 100421324 ABBA01039217;AC090516;AMYH02030329;NG_025379 pseudo HGNC:38561 INFERRED 4110256 GAPDHP57 glyceraldehyde 3 phosphate dehydrogenase pseudogene 57 2 2 2 75514424 75515028 - 75683117 75683721 - 75455991 75456595 - 100421188 ABBA01075623;AC098581;AMYH02004096;NG_023572 pseudo HGNC:38563 INFERRED 3476330 GAPDHP41 glyceraldehyde 3 phosphate dehydrogenase pseudogene 41 6 6 6 p11.2 59622426 59623559 - 57686885 57688018 - 60719138 60720271 - 100131935 ABBA01039497;AL512427;AL590227;AMYH02013784;NG_007298 1696812;1756389 G49150;SHGC-143356 pseudo HGNC:37798 INFERRED 1348689 GAPDHP59 glyceraldehyde-3-phosphate dehydrogenase pseudogene 59 2 2 2 q32.1 181876368 181877197 + 188280258 188281087 + 187415531 187416360 + 2793178 645024 ABBA01062350;AC007319;AMYH02005412;NG_006132 GAPDHL3;GAPDL3 APPROVED pseudo HGNC:4152 INFERRED 4110203 GAPDHP53 glyceraldehyde 3 phosphate dehydrogenase pseudogene 53 20 20 20 24500362 24501264 + 24426048 24426950 + 24445412 24446314 + 100421318 ABBA01048737;AL034426;AMYH02036841;NG_025000 pseudo HGNC:38559 INFERRED 1353166 GAPDHP61 glyceraldehyde 3 phosphate dehydrogenase pseudogene 61 15 15 15 q22.31 41698504 41699775 - 64820661 64821939 - 64528462 64529740 - 2793178 729403 ABBA01038883;AC091231;AMYH02030610;NG_009327 1791508 PMC112330P1 GAPDHL6;GAPDL6 APPROVED pseudo HGNC:4155 INFERRED 4110230 GAPDHP56 glyceraldehyde 3 phosphate dehydrogenase pseudogene 56 4 4 4 128805572 128806547 - 131424521 131425496 - 130503366 130504341 - 100421232 ABBA01044841;AC092540;AMYH02010113;NG_025161 pseudo HGNC:38562 INFERRED 1343589 GAPDHP58 glyceraldehyde 3 phosphate dehydrogenase pseudogene 58 1 1 1 p12 118269155 118270282 - 120038412 120039539 - 119495789 119496916 - 2793178 391077 ABBA01068514;AL121995;AMYH02001816;NG_009338 GAPDHL1;GAPDL1 APPROVED pseudo HGNC:4142 INFERRED 4110202 GAPDHP52 glyceraldehyde 3 phosphate dehydrogenase pseudogene 52 13 13 13 2994217 2995152 + 21932515 21933450 + 21358376 21359311 + 100421313 ABBA01068604;AL136219;AMYH02027659;NG_024895 pseudo HGNC:38558 INFERRED 1353679 GAPDHP65 glyceraldehyde 3 phosphate dehydrogenase pseudogene 65 X X X p11.3 50491024 50492020 - 46298945 46300220 - 46439510 46440785 - 2793178 389849 ABBA01052207;AL139811;AMYH02039257;NG_006129 1791372;1791384;1791508;1791552;1791588;1792090;1795088 PMC108311P2;PMC108957P1;PMC112330P1;PMC114947P1;PMC115884P2;PMC136694P1;PMC97327P1 GAPDHL10;GAPDL10 APPROVED pseudo HGNC:4143 INFERRED 1346814 GAPDHP66 glyceraldehyde-3-phosphate dehydrogenase pseudogene 66 18 18 18 p11.31 3861260 3862489 - 3977457 3978686 - 3977457 3978686 - 2793178 645256 ABBA01049866;AMYH02034233;AP005241;NG_007000 GAPDHL11;GAPDL11 APPROVED pseudo HGNC:4144 INFERRED 1346620 GAPDHP63 glyceraldehyde 3 phosphate dehydrogenase pseudogene 63 6 6 6 q14.1 81080504 81081779 - 80662519 80663799 - 79952802 79954082 - 2793178 442231 ABBA01040419;AL133475;AMYH02013979;NG_006998 1791532 PMC113938P1 GAPDHL8;GAPDL8 APPROVED pseudo HGNC:4157 INFERRED 1346156 GAPDHP64 glyceraldehyde-3-phosphate dehydrogenase pseudogene 64 1 1 1 p13.1 115484764 115486039 - 117256257 117257533 - 116713635 116714911 - 2793178 391069 ABBA01068494;AL356748;AMYH02001795;NG_006130 GAPDHL9;GAPDL9 APPROVED pseudo HGNC:4158 INFERRED 1352047 GAPDHP68 glyceraldehyde 3 phosphate dehydrogenase pseudogene 68 7 7 7 p21.3 9629943 9631221 + 9654538 9655816 + 9614908 9616186 + 2793178 100132601 ABBA01056540;AC096553;AMYH02015215;CH236948;NG_009341 GAPDHL13;GAPDL13 APPROVED pseudo HGNC:4146 INFERRED 1343600 GAPDHP67 glyceraldehyde 3 phosphate dehydrogenase pseudogene 67 X X X q26.3 135520672 135521427 + 135160036 135160791 + 136077877 136078632 + 2793178 2609 ABBA01055860;AL732579;AMYH02040573;NG_006127 GAPDHL12;GAPDL12 APPROVED pseudo HGNC:4145 INFERRED 1352447 GAPDHP71 glyceraldehyde-3-phosphate dehydrogenase pseudogene 71 5 5 5 q35.2 169973921 169975200 + 173940236 173941522 + 174513233 174514519 + 2613 ABBA01044013;AC108104;AC108112;AMYH02012790;NG_003027 1794542 PMC317006P1 GAPDHL16;GAPDL16 APPROVED pseudo HGNC:4149 INFERRED 1350305 GAPDHP62 glyceraldehyde 3 phosphate dehydrogenase pseudogene 62 8 8 8 q22.2 97748135 97749328 - 101562768 101563961 - 100550540 100551733 - 12477932;2793178 100128961 ABBA01037578;AMYH02018505;AP000424;BC009500;BC040702;NG_009346 Hs.700353 1773853;1773939;5019345;5019383;5094638;5126837 A005E22;HSCZOG032;PMC102181P3;PMC141140P1;PMC148872P2;PMC21573P1 GAPDHL7;GAPDL7 APPROVED pseudo HGNC:4156 INFERRED 1348918 GAPDHP69 glyceraldehyde 3 phosphate dehydrogenase pseudogene 69 13 13 13 q12 10956757 10958024 + 29880844 29882111 + 29306707 29307974 + 2793178 2611 ABBA01035716;AL596092;AMYH02027776;NG_009332 GAPDHL14;GAPDL14 APPROVED pseudo HGNC:4147 INFERRED 1348752 GAPDHP73 glyceraldehyde-3-phosphate dehydrogenase pseudogene 73 6 6 6 q23.3 136680465 136681742 - 135940105 135941383 - 135618967 135620245 - 442262 ABBA01025838;ABBA01025839;AL035604;AMYH02014551;NG_007007 1724643 RH121322 GAPDHL19;GAPDL19 APPROVED pseudo HGNC:22956 INFERRED 8661344 GAPDHP74 glyceraldehyde-3-phosphate dehydrogenase pseudogene 74 1 1 1 p12 118207844 118208473 - 119977083 119977712 - 119434460 119435089 - 391073 ABBA01068514;AL359553;AMYH02001816;NG_022738 pseudo HGNC:50647 INFERRED 1349845 GAPDHP70 glyceraldehyde 3 phosphate dehydrogenase pseudogene 70 11 11 11 q14.2 86489649 86490961 + 88141142 88142458 - 88407974 88409290 - 2793178 642259 ABBA01011535;AMYH02025261;AP003120;NG_007004 GAPDHL15;GAPDL15 APPROVED pseudo HGNC:4148 INFERRED 8661621 GAPDHP76 glyceraldehyde-3-phosphate dehydrogenase pseudogene 76 19 19 19 p13.2 11589927 11593539 + 11688883 11697976 + 11578068 11587161 + 100287725 ABBA01029833;AC020947;AMYH02035531;NG_028151 pseudo HGNC:50649 INFERRED 1345775 GAPDHP72 glyceraldehyde-3-phosphate dehydrogenase pseudogene 72 6 6 6 q27 167217337 167218618 + 166477708 166478996 + 166064220 166065508 + 346085 ABBA01015077;AL627443;AMYH02014960;NG_009329 GAPDHL18;GAPDL18 APPROVED pseudo HGNC:22955 INFERRED 1343232 GAPDL17 glyceraldehyde-3-phosphate dehydrogenase-like 17 2614 HGNC:4150 1351873 GAPDL2 glyceraldehyde-3-phosphate dehydrogenase-like 2 2599 X01111;XM_290433 HGNC:4151 1604723 GAPT GRB2-binding adaptor protein, transmembrane INVOLVED IN B cell activation (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (+)-catechin; daunorubicin 5 5 5 q11.2 54725819 54730674 + 57787262 57792185 + 58491435 58496358 + 6480464 12477932;14702039;15489334 202309 D6RA63;D6RBK7;Q8N292 ABBA01015787;AC008814;AK090960;AMYH02011350;AX119237;AX505129;BC063534;CH471123;NM_152687;XM_005248467;XM_005248468;XM_005248469 AAH63534;BAC03557;CAC38692;CAD48812;EAW54974;EAW54975;NP_689900;Q8N292;XP_005248524;XP_005248525;XP_005248526 Hs.547697 C5orf29;FLJ33641;MGC70478 GRB2-binding transmembrane adaptor;OTTHUMP00000161880;OTTHUMP00000221542;OTTHUMP00000221543;growth factor receptor-bound protein 2-binding adapter protein, transmembrane protein-coding HGNC:26588 08161 PROVISIONAL 1346713 GAR1 GAR1 ribonucleoprotein This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q25 108030240 108039463 + 110736666 110745893 + 109815510 109824737 + 1580863;6480464;6907045 10757788;11074001;11509230;11790298;12244096;12477932;15044956;15146197;15489334;15635413;17903301;18082603;1821816;18989882;19596686;19615732;19738201;19917616;20332099;20360068;21139048;21145461;21890473;22505724;22939629;23602568;23707062;24204828;24457600;7566098;8766832 54433 Q9NY12 AA311919;ABBA01063785;AC126283;AJ276003;AK310489;AMYH02009902;AY780787;BC003413;CH471057;CN428426;NM_018983;NM_032993;XM_005263069 AAH03413;AAV98357;ABM85083;ABW03722;CAB76563;EAX06253;EAX06254;NP_061856;NP_127460;Q9NY12;XP_005263126 Hs.69851 1774956;1853463;2159238 RH78325;SHGC-19824;SHGC-19829 NOLA1 GAR1 ribonucleoprotein homolog;H/ACA ribonucleoprotein complex subunit 1;OTTHUMP00000219723;OTTHUMP00000219724;OTTHUMP00000219725;nucleolar protein family A member 1;nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs);snoRNP protein GAR1 APPROVED protein-coding ENSG00000109534 HGNC:14264 07569 606468 REVIEWED 8661591 GAPDHP75 glyceraldehyde-3-phosphate dehydrogenase pseudogene 75 1 1 189101682 189102420 - 189132551 189133289 - 100652918 ABBA01027680;AL596326;AMYH02002338;NG_032724 pseudo HGNC:50648 INFERRED 1345398 GAPDHP60 glyceraldehyde-3-phosphate dehydrogenase pseudogene 60 4 4 4 q22.1 85417178 85418451 + 88128168 88129446 + 87207016 87208294 + 2793178;9847074 2601 ABBA01063526;AC092658;AMYH02009667;NG_003011 GAPDHL4;GAPDL4 APPROVED pseudo HGNC:4153 INFERRED 1603263 GAREML GRB2 associated, regulator of MAPK1-like ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 p23.3 26236190 26252761 + 26395960 26412532 + 26173091 26189663 + 6480464;8554872 12477932;20682791;21706016;22558309 150946 Q75VX8 AA736392;AB015349;AB124552;ABBA01045176;ABBA01045177;AC011742;AK090454;AMYH02003457;CX759737;NM_001168241;NM_001191033;XM_006711951 BAA88120;BAC03435;BAC99057;NP_001161713;NP_001177962;Q75VX8;XP_006712014 Hs.187912 1769484;2119896;2134603;2191267;5037552 1910;A004O15;D8S2279;MARC_16909-16910:1022860919:1;WI-13615 FAM59B;FLJ00375;KIAA2038 GRB2-associated and regulator of MAPK protein-like;GRB2-associated and regulator of MAPK1-like;OTTHUMP00000200818;OTTHUMP00000200819;family with sequence similarity 59, member B APPROVED protein-coding ENSG00000157833 HGNC:27172 VALIDATED 1346418 GARNL3 GTPase activating Rap/RanGAP domain-like 3 ENCODES a protein that exhibits GTPase activator activity (inferred); small GTPase regulator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenous acid; atrazine; carmustine 9 9 9 q33.3 100681389 100810468 + 129986750 130155828 + 127224471 127393549 + 737633;6480464;8554872 12477932 11230166;14702039;16344560;18711365;20379614;22632162;23314748;23319000 84253 C9J8L5;C9J9U0;C9JFS0;F2Z2Q8;F8WB68;Q5JS19;Q5VVW2;S4R3P7 ABBA01043828;ABBA01043829;ABBA01043830;ABBA01043831;AK095679;AK126704;AK293732;AK294970;AK296246;AL136573;AL445222;AL450263;AL834149;AMYH02021678;AMYH02021679;AMYH02021680;AMYH02021681;BC034983;CH471090;DA183830;DA406716;NM_001286779;NM_032293;NR_104591;XM_005252267;XM_005252268;XM_006717302 AAH34983;BAC04605;BAG57158;BAG58042;BAH12292;CAB66508;CAD38860;EAW87654;EAW87655;EAW87656;EAW87657;EAW87658;EAW87659;NP_001273708;NP_115669;Q5VVW2;XP_005252324;XP_005252325;XP_006717365 Hs.29304 1681929;1758683;1787006;5015619;5037552 D11S3114;D8S2279;SHGC-149157;SHGC-149389;SHGC-2346 DKFZp434O131;DKFZp761J1523;FLJ38360;RP11-356B19.1;bA356B19.1 GTPase activating RANGAP domain-like 3;GTPase-activating Rap/Ran-GAP domain-like protein 3;OTTHUMP00000022171;OTTHUMP00000211604 protein-coding ENSG00000136895 HGNC:25425 13567 VALIDATED 4110229 GAPDHP50 glyceraldehyde 3 phosphate dehydrogenase pseudogene 50 3 3 3 89850678 89851665 - 89096595 89097582 - 89047445 89048432 - 100421236 ABBA01004641;AC106715;AMYH02007226;NG_025600 pseudo HGNC:38556 INFERRED 1317292 GARS glycyl-tRNA synthetase This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. [provided by RefSeq, Jul 2008] 7 7 7 p15 30623360 30662827 + 30634181 30673649 + 30594565 30634033 + 1298623;1580863;6480464;7240710;8554872;8699517 8595897 11829477;12477932;12690205;12690580;12853948;15452148;15489334;16169070;16534118;17101916;17142907;17544401;17545306;17595294;18029348;18275849;19329989;19412816;19710017;20301420;20301462;20301484;20301532;20360068;20877624;21139048;21145461;21319273;21890473;21906983;21963094;21988832;22079093;22144914;22268729;22345558;22505724;22863883;22939629;23000965;23125841;23279345;24654937;24778252;24816145;24898252;25015289;7539919;7753621;7961834;7962006;8816763;8872480;9524218 2617 F8WCK4;H7C443;P41250 AA772440;AACC02000087;ABBA01056813;AC004976;AC005154;AC006969;AK074524;AK295490;AK310351;AMYH02015460;BC000065;BC007722;BC007755;CH471073;D30658;NG_007942;NM_002047;U09510;U09587;XM_006715686 AAA57001;AAA86443;AAC71652;AAH07722;AAH07755;AAS00367;ABM83699;ABM87020;BAA06338;BAG51964;BAG58412;EAL24449;EAW93960;EAW93961;NP_002038;P41250;XP_006715749 Hs.404321 1335719;1649392;1735638;1769432;2144967;2169221;5017554;7183704 D7S1808;D7S2049E;D7S2836;D7S435;GARS;RH47185;RH47187;SHGC-31691 CMT2D;DSMAV;GlyRS;HMN5;SMAD1 AP-4-A synthetase;Charcot-Marie-Tooth neuropathy 2D;Charcot-Marie-Tooth neuropathy, neuronal type, D;OTTHUMP00000202329;diadenosine tetraphosphate synthetase;glycine tRNA ligase;glycine--tRNA ligase APPROVED protein-coding ENSG00000106105 HGNC:4162 02617 600287;600794;601472 REVIEWED 8655458 GARSP1 glycyl-tRNA synthetase pseudogene 1 17 17 17 50090148 50090862 - 53628308 53629022 - 55550947 55551661 - 100419764 ABBA01041293;AC105021;AMYH02033656;NG_026193 pseudo HGNC:50480 INFERRED 1345993 GAS1 growth arrest-specific 1 Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008] 9 9 9 q21.3-q22 60128056 60130876 - 89559277 89562104 - 86944362 86947189 - 1580863;5510025;6480464;6484113;6907045 20844013 10996315;11356029;11572986;11846389;11906213;12477932;1505026;15070677;15103018;16551639;17726382;18394855;18981472;19322201;19460624;19638344;20050020;20301702;20583177;20628624;21111449;21357679;21842183;21890473;21901158;21971401;22311470;22846196;23254899;7956349;8127893;8307588;8889548;9466658 2619 P54826 ABBA01016314;AL158149;AMYH02021158;BC074809;BC074908;BC132682;BC136586;BM661942;L13698;NG_032760;NM_002048 AAA72368;AAH74809;AAH74908;AAI32683;AAI36587;NP_002039;P54826 Hs.65029 2154101;2165107;5492683;5493465;5493749 STS-L13698;UniSTS:482018;UniSTS:486591;UniSTS:494527;WI-19256 GAS-1 Growth arrest-specific gene-1;OTTHUMP00000021599;growth arrest-specific protein 1 APPROVED protein-coding ENSG00000180447 HGNC:4165 00747 139185 REVIEWED 1354511 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008] 19 19 19 q13.12 32737767 32749674 + 36024314 36036221 + 35533412 35545319 + 1303348;737633;1358618;1580863;6480464;6907045 10714828;12477932;15507493 10655454;11225901;11330647;15057824;15342556;15489334;16324157;16700075;16820410;16832079;17047026;17192785;17353931;18298375;18654987;20534741;20828617;20833277;20880607;21269272;21832049;21995946;23026046;23306140;23675907;2793178;4349855;8125298;9264469 26330 K7EMB2;K7EP73;O14556 ABBA01018746;AC002389;AF216641;AJ005371;AK225727;AK314980;AMYH02035985;AY306129;BC036373;BP370184;NM_014364;XM_005258732 AAB64181;AAF87970;AAH36373;AAQ75383;ABM81782;ABM84936;BAG37479;CAA06501;NP_055179;O14556;XP_005258789 Hs.248017 GAPD2;GAPDH-2;GAPDS;HSD-35 glyceraldehyde-3-phosphate dehydrogenase, testis-specific;spermatogenic cell-specific glyceraldehyde 3-phosphate dehydrogenase 2;spermatogenic glyceraldehyde-3-phosphate dehydrogenase APPROVED protein-coding ENSG00000105679 HGNC:24864 13566 609169 REVIEWED 8552148 GAS2L1P1 growth arrest-specific 2 like 1 pseudogene 1 9 9 38486674 38505122 - 38486677 38505125 - 101927222 AL390726 pseudo HGNC:50293 MODEL 1318653 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 20075872 20114832 - 34876238 34915223 - 33503931 33542917 - 1580863;1547842;5143983;6480464;6907045;7242561 12450384;22332074;9328467 10830953;12477932;12755606;15489334;15592455;1574589;16026156;16196087;16344560;16467096;17198385;17353931;17902044;18029348;18781797;18978678;19161160;19301155;19322201;19336370;19738201;19936946;2050105;20631005;20634891;21139048;21145461;2147474;2183217;21890473;21906983;21963094;21987572;21988832;22053931;22268729;22505724;22586326;22863883;22931243;22939629;23000965;23128233;23869564;24654937;24816145;24830618;25015289;25027693;6232198;8299947;9224613 2618 B4DJ93;C9JBJ1;C9JKQ7;C9JTV6;C9JZG2;F8WD69;H7C366;P22102;Q59HH3 AB208785;ABBA01057348;ABBA01057349;ABBA01057350;ABBA01057351;AF008653;AF008654;AF008655;AK292560;AK292897;AK295980;AMYH02037740;AP000302;AP000303;BC038958;BC068438;BC093641;BC101565;BC107712;BM172468;BQ010035;BQ477393;BX648124;CH471079;D32051;DB062974;DB236855;KF457223;KF511397;M32082;NG_029160;NM_000819;NM_001136005;NM_001136006;NM_175085;X54199;XM_005260941;XM_006723988;XM_006723989;XM_006723990 AAA60077;AAB70812;AAB70813;AAB71834;AAH38958;AAH93641;AAI01566;AAI07713;BAA06809;BAD92022;BAF85249;BAF85586;BAG58755;CAA38119;EAX09825;EAX09826;EAX09827;EAX09828;EAX09829;NP_000810;NP_001129477;NP_001129478;NP_780294;P22102;XP_005260998;XP_006724051;XP_006724052;XP_006724053 Hs.473648 1741773;1798400;1798524;1798972;1800738;1800914;1803936;1807954;1809556;1810478;1811218;1811444;1811698;1811930;1813082;1814608;1814986;1820776;1820982;1822234;1822886;1823510;1823930;1824790;1825344;1825432;1827140;1832910;1833124;1838740;1838742;1838810;1839458;1839720;1839722;1840000;1840152;1842644;1843530;1845694;1846002;1846022;1854662;2029012;2029014;2029016;2029018;2029020;2029022;2029024;2029026;2029028;2029030;2029032;2029034;2029036;2029038;2029040;2029042;2029044;2029046;2029048;2029050;2029052;2029054;2029056;2029058;2029060;2029062;2029064;2029066;2029068;2029070;2029072;2029074;2029076;2029078;2029080;2029082;2029084;2029086;2029088;2029090;2029092;2029094;2029096;2029098;2029100;2029102;2029104;2029106;2029108;2029110;2029112;2029114;2029116;2029118;2029120;2029122;2029124;2029126;2029128;2029130;2029132;2029134;2029136;2029138;2029140;2029142;2029144;2029146;2029148;2029150;2029152;2029154;2029156;2029158;2029160;2029162;2029164;2029166;2029168;2029170;2029172;2029174;2029176;2029178;2029180;2029182;2029184;2029186;2029188;2029190;2029192;2029194;2029196;2029198;2029200;2029202;2029204;2029206;2029208;2029210;2029212;2029214;2029216;2029218;2029220;2029222;2029224;2029226;2029228;2029230;2029232;2029234;2029236;2029238;2029240;2029242;2029244;2029246;2029248;2029250;2029252;2029254;2029256;2029258;2029260;2029262;2029264;2029266;2029268;2029270;2029272;2029274;2029276;2029278;2029280;2029282;2029284;2029286;2029288;2029290;2029292;2029294;2029296;2029298;2029300;2029302;2029304;2029306;2029308;2029310;2029312;2029314;2029316;2029318;2029320;2029322;2029324;2029326;2029328;2029330;2029332;2029334;2029336;2029338;2029340;2029342;2029344;2029346;2029348;2029350;2029352;2101314;2101316;2101318;2101320;2101322;2101324;2101326;2101328;2101330;2101332;2101334;2101336;2101338;2101340;2101342;2101344;2101346;2101348;2101350;2101352;2101354;2101356;2101358;2101360;2101362;2101364;2101366;2101368;2101370;2101372;2101374;2101376;2101378;2101380;2101382;2154744;2171826;5110823;5120043 D21S1825;ECD00036;ECD00100;ECD00328;ECD01230;ECD01322;ECD02882;ECD04952;ECD05770;ECD06232;ECD06607;ECD06721;ECD06853;ECD06969;ECD07560;ECD08334;ECD08524;ECD11463;ECD11567;ECD12203;ECD12531;ECD12846;ECD13060;ECD13493;ECD13778;ECD13823;ECD14685;ECD17596;ECD17704;ECD20548;ECD20549;ECD20584;ECD20911;ECD21043;ECD21044;ECD21184;ECD21260;ECD22529;ECD22974;ECD24065;ECD24221;ECD24231;GDB:185160;GDB:192321;REN85510;REN85511;REN85512;REN85513;REN85514;REN85515;REN85516;REN85517;REN85518;REN85519;REN85520;REN85521;REN85522;REN85523;REN85524;REN85525;REN85526;REN85527;REN85528;REN85529;REN85530;REN85531;REN85532;REN85533;REN85534;REN85535;REN85536;REN85537;REN85538;REN85539;REN85540;REN85541;REN85542;REN85543;REN85544;REN85545;REN85546;REN85547;REN85548;REN85549;REN85550;REN85551;REN85552;REN85553;REN85554;REN85555;REN85556;REN85557;REN85558;REN85559;REN85560;REN85561;REN85562;REN85563;REN85564;REN85565;REN85566;REN85567;REN85568;REN85569;REN85570;REN85571;REN85572;REN85573;REN85574;REN85575;REN85576;REN85577;REN85578;REN85579;REN85580;REN85581;REN85582;REN85583;REN85584;REN85585;REN85586;REN85587;REN85588;REN85589;REN85590;REN85591;REN85592;REN85593;REN85594;REN85595;REN85596;REN85597;REN85598;REN85599;REN85600;REN85601;REN85602;REN85603;REN85604;REN85605;REN85606;REN85607;REN85608;REN85609;REN85610;REN85611;REN85612;REN85613;REN85614;REN85615;REN85616;REN85617;REN85618;REN85619;REN85620;REN85621;REN85622;REN85623;REN85624;REN85625;REN85626;REN85627;REN85628;REN85629;REN85630;REN85631;REN85632;REN85633;REN85634;REN85635;REN85636;REN85637;REN85638;REN85639;REN85640;REN85641;REN85642;REN85643;REN85644;REN85645;REN85646;REN85647;REN85648;REN85649;REN85650;REN85651;REN85652;REN85653;REN85654;REN85655;REN85656;REN85657;REN85658;REN85659;REN85660;REN85661;REN85662;REN85663;REN85664;REN85665;REN85666;REN85667;REN85668;REN85669;REN85670;REN85671;REN85672;REN85673;REN85674;REN85675;REN85676;REN85677;REN85678;REN85679;REN85680;SHGC-87570;STS-D32051;WI-18814;stSG607218;stSG607219;stSG607220;stSG607221;stSG607222;stSG607223;stSG607224;stSG607225;stSG607226;stSG607227;stSG607228;stSG607229;stSG607230;stSG607231;stSG607232;stSG607233;stSG607234;stSG607235;stSG607236;stSG607237;stSG607238;stSG607239;stSG607240;stSG607241;stSG607242;stSG607243;stSG607244;stSG607245;stSG607246;stSG607247;stSG607248;stSG607250;stSG607251;stSG607252;stSG607253 AIRS;GARS;GARTF;MGC47764;PAIS;PGFT;PRGS OTTHUMP00000068280;OTTHUMP00000068281;OTTHUMP00000068282;OTTHUMP00000068333;OTTHUMP00000068337;OTTHUMP00000197910;trifunctional purine biosynthetic protein adenosine-3 APPROVED protein-coding ENSG00000159131 HGNC:4163 00716 138440 REVIEWED 1322543 GAS2L1 growth arrest-specific 2 like 1 This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Jul 2013] 22 22 22 q12.2 13502852 13508630 + 29702985 29708778 + 29306995 29312789 + 1580863;6480464;8554872 11799066;12477932;12584248;14702039;15489334;1607387;17081983;19375645;19531213;20537721;21044950;8125298;8975699 10634 A0A5E8;C9JFI0;C9JRR6;Q99501 ABBA01055261;AC002059;AK093386;AK122829;AK223602;AK225484;AK301715;AMYH02038198;BC001782;BC007624;BC011047;BI601743;BM144477;BM803267;CH471095;KF459717;NG_032959;NM_001278730;NM_006478;NM_152236;NM_152237;Y07846;Y07848 AAH01782;AAH07624;AAH11047;BAC04150;BAD97322;BAG53749;BAG63186;CAA69174;CAA69176;EAW59788;EAW59789;EAW59790;EAW59791;EAW59792;EAW59793;EAW59794;EAW59795;NP_001265659;NP_006469;NP_689422;NP_689423;Q99501 Hs.322852 1771911;2115415;2157285 RH17231;RH70963;WI-20850 GAR22;MGC17243 GAS2-like protein 1;GAS2-related protein on chromosome 22;OTTHUMP00000199158;OTTHUMP00000199159;OTTHUMP00000199160;OTTHUMP00000199161;OTTHUMP00000199162;OTTHUMP00000241303;growth arrest-specific protein 2-like 1 APPROVED protein-coding ENSG00000185340 HGNC:16955 03676 602128 REVIEWED 1342843 GAREM GRB2 associated, regulator of MAPK1 This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 18 18 18 q12.1 26654417 26857408 - 29843484 30050447 - 32263521 32470484 - 737633;6480464;8554872 12477932 14702039;15489334;15592455;15951569;18854154;19240061;19509291;20379614;20936779;21988832;24003223;24250222 64762 J3QRF3;Q9H706 ABBA01022485;ABBA01022486;ABBA01022487;ABBA01022488;AC009835;AC015563;AC021224;AF086529;AI479499;AK025263;AK025660;AK297430;AL834491;AMYH02034521;AMYH02034522;AMYH02034523;BC005074;BC121067;BC121068;CH471088;NG_030329;NM_001242409;NM_022751 AAH05074;AAI21068;AAI21069;BAB15094;BAG59858;CAD39149;EAX01286;EAX01287;NP_001229338;NP_073588;Q9H706 Hs.444314 1336665;1661072;1681125;1734578;1764481;1779828;1789058;2122808;2153090;2181113;5106383;7186025 D18S457;D18S921E;D18S937E;G65665;SHGC-148085;SHGC-153799;SHGC-30861;SHGC-36802;SHGC-52747;WI-14403;WI-22103 C18orf11;FAM59A;Gm944 GRB2-associated and regulator of MAPK protein;GRB2-associated and regulator of MAPK1;Grb2-associated and regulator of Erk/MAPK;OTTHUMP00000163112;OTTHUMP00000163113;chromosome 18 open reading frame 11;family with sequence similarity 59, member A APPROVED protein-coding ENSG00000141441 HGNC:26136 12685 REVIEWED 1348959 GAS2 growth arrest-specific 2 The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009] 11 11 11 p14.3 22822041 22968405 + 22688160 22834547 + 22666614 22813001 + 1580863;6480464;8554872 1056466;10564664;11337467;11387205;12477932;15124103;15489334;15817486;1607387;16344560;20677014;20679491;21546767;21832049;3409319;9521882 2620 E9PM28;E9PQ37;E9PQ74;E9PRR5;O43903 ABBA01061014;ABBA01061015;AC006299;AC103801;AI374985;AK313734;AMYH02024434;AMYH02024435;AMYH02024436;AMYH02024437;AU099094;BC005077;BC013326;BC040470;CH471064;CR450285;DA345287;NM_001143830;NM_005256;NM_177553;U95032 AAC52058;AAH05077;AAH13326;AAH40470;BAG36475;CAG29281;EAW68317;EAW68318;NP_001137302;NP_005247;NP_808221;O43903 Hs.711297 1713187;1737913;1751187;1751203;1795894;2124669 D11S3519;GAS2_660;RH121950;RH68529;SHGC-105084;SHGC-105087 GAS-2;MGC32610 OTTHUMP00000231848;OTTHUMP00000231850;OTTHUMP00000231853;growth arrest-specific protein 2 APPROVED protein-coding ENSG00000148935 HGNC:4167 04158 602835 REVIEWED 1346877 GAS5 growth arrest-specific 5 (non-protein coding) INTERACTS WITH 4-phenylbutyric acid; bilirubin; copper atom 1 1 1 q25.1 146942508 146946594 - 173833039 173837125 - 173863901 173867987 - 1302234;6480464 9819378 12477932;18406879;18836484;20124551;21112873;21428924;23383264;23621190;23676682;23726844;23933812;24026436;24069260;24319682 60674 ABBA01027896;AF141346;AK025846;AL110141;AL136170;AMYH02002157;BC038733;BC070486;HG975395;NR_002578 Hs.531856;Hs.736055 1656587;1663269;1791400;2187512;5015861;5015961;5016781;7185938 D10S16;D15S1477;PMC109273P2;RH35920;SHGC-35933;SHGC-67307;STS-AA020818 NCRNA00030;SNHG2 ncrna ENSG00000234741 HGNC:16355 608280 PROVISIONAL 1315710 GAS2L3 growth arrest-specific 2 like 3 ENCODES a protein that exhibits actin binding; microtubule binding; INVOLVED IN actin cytoskeleton organization; microtubule cytoskeleton organization; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN actin cytoskeleton; microtubule cytoskeleton; INTERACTS WITH 17beta-estradiol; benzene; benzo[a]pyrene 12 12 12 q23.1 100632831 100684032 + 100967446 101020657 + 100573668 100626879 + 1580863;6480464;8554872 12477932;14702039;15489334;19322201;21561867;22344256;23341777;23469016;24571573 283431 F8VSB7;G3V1N3;H0YIT6;Q86XJ1 ABBA01053252;AC010200;AC010209;AK095594;AK315189;AMYH02027058;AMYH02027059;AMYH02027060;BC043366;CH471054;NM_174942;XM_005268804;XM_005268805 AAH43366;BAG37629;BAG53091;EAW97641;EAW97642;EAW97643;EAW97644;NP_777602;Q86XJ1;XP_005268861;XP_005268862 Hs.20575 1656682;1702224 GDB:604488;RH44860 G2L3 GAS2-like protein 3;OTTHUMP00000243791;OTTHUMP00000243792;growth arrest-specific protein 2-like 3 protein-coding ENSG00000139354 HGNC:27475 13568 PROVISIONAL 6766444 GAS5-AS1 GAS5 antisense RNA 1 1 1 1 146940759 146942548 + 173832386 173833079 + 173863248 173863941 + 100506046 ABBA01027896;AF088026;AL136170;AMYH02002157;NR_037605 Hs.656411 1663269;1791400;2187512 PMC109273P2;SHGC-35933;STS-AA020818 APPROVED ncrna ENSG00000270084 HGNC:44119 VALIDATED 8552083 GAS2L1P2 growth arrest-specific 2 like 1 pseudogene 2 9 9 9 q22.33 70352236 70358509 - 99837953 99844227 - 97075671 97081945 - 12477932 340508 ABBA01042939;AL445670;AMYH02021304;BC043374;NR_002942 Hs.680438 pseudo ENSG00000228376 HGNC:27986 PROVISIONAL 1317230 GAS8 growth arrest-specific 8 This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] 16 16 16 q24.3 75152846 75175909 + 90086056 90111379 + 90019629 90044971 + 1580863;6480464 10969087;11751847;12477932;15489334;16344560;17009870;17353931;19340012;19995461;20308539;21565611;9790751 2622 B7Z1U9;H3BME0;H3BNL3;H3BP65;H3BQT7;H3BUA7;O95995 ABBA01014115;ABBA01014116;ABBA01014117;AC133919;AF050068;AF050069;AF050070;AF050071;AF050072;AF050073;AF050074;AF050075;AF050076;AF050077;AF050078;AF050079;AK293958;AK294050;AK297857;AK303505;AK304731;AK315261;AMYH02032690;AMYH02032691;BC036781;BC104785;BC112121;BX647947;CH471184;CR749499;DA504655;DC370728;DC371501;NM_001286205;NM_001286208;NM_001286209;NM_001481;XM_005256304;XM_005256309;XM_006721175 AAC69518;AAC69519;AAI04786;AAI12122;BAG37678;BAH11635;BAH11659;BAH12677;BAH13976;BAH14246;CAH18322;EAW66658;EAW66659;EAW66660;EAW66661;NP_001273134;NP_001273137;NP_001273138;NP_001472;O95995;XP_005256361;XP_005256366;XP_006721238 Hs.431792 1671958;1674111;2167918;2220596 RH48427;RH48729;SHGC-61195;UniSTS:485715 GAS-11;GAS-8;GAS11;MGC138326 OTTHUMP00000176848;growth arrest specific 11;growth arrest-specific 11;growth arrest-specific protein 11;growth arrest-specific protein 8 APPROVED protein-coding ENSG00000141013 HGNC:4166 05533 605178 REVIEWED 1317311 GAS2L2 growth arrest-specific 2 like 2 The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011] 17 17 17 q12 30981675 30990035 - 34071530 34079897 - 35744511 35753213 - 1580863;6480464;8554872 12584248;20467438;22889411;8889548 246176 Q8NHY3 ABBA01011234;AC006237;AF508784;AF508785;AMYH02033352;CB241159;CB306083;CH471147;NG_029638;NM_139285;XM_006721796 AAI48637;AAM34264;AAM34265;EAW80131;NP_644814;Q8NHY3;XP_006721859 Hs.591194 1700620 RH103932 GAR17 GAS2-like protein 2;GAS2-related protein on chromosome 17;OTTHUMP00000163888;growth arrest-specific protein 2-like 2 APPROVED protein-coding ENSG00000270765 HGNC:24846 11000 611398 REVIEWED 736280 GAS6 growth arrest-specific 6 This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014] 13 13 13 q34 95265581 95312916 - 114523522 114567046 - 113820549 113864073 - 1579935;1579883;1579938;1580863;1579881;1579882;6480464 11290560;15108283;15619028;16285961;16374177 10954847;11175853;12029073;12218057;12477932;12490074;12764109;12768229;14702039;14750094;15130893;15184064;15452374;15489334;15507525;15605394;15958209;16344560;16359517;16362042;16556867;16564713;16723520;16999853;17721624;17897008;18172262;18174285;18395422;18570189;18680538;18760998;18840707;19132213;19369636;19567592;19657094;19696043;19744001;19888345;19922767;19965679;20048160;20088931;20103767;20126470;20417630;20504897;20546121;20664904;20922806;21067537;21139048;21278074;21343401;21501828;21638224;21959217;22072012;22363695;22516347;22516727;22763415;22833165;22907951;22914895;23209669;23242819;23318455;23318499;23341490;23354874;23419144;23430954;23567973;23570341;23684620;23684948;23781120;23826128;23878800;23979857;24233839;24236135;24326683;24409287;24567414;24939420;7634325;7854420;7867073;8336730;8595896;8604045;8621659;8637702;8939948;9259426;9326368;9326369;9367994 2621 Q14393 AA045119;ABBA01015947;ABBA01015948;ABBA01015949;AK092028;AK122969;AK126533;AK290803;AK303145;AL833761;AMYH02028748;AMYH02028749;AY170372;AY256843;BC030708;BC038984;BK001240;BQ181504;BX072579;BX380508;CH471085;DB290970;EF631974;HY038614;L13720;NG_029703;NM_000820;NM_001143945;NM_001143946 AAA58494;AAH38984;AAO41859;AAO84057;ABR09277;BAC86580;BAF83492;BAG52469;BAG53826;BAG64249;CAH56234;DAA01155;EAX09226;NP_000811;NP_001137417;NP_001137418;Q14393 Hs.646346 1789072;2111552;2159996;2182325 D13S1513;G65671;SHGC-31188;STS-L13720 AXLLG;AXSF;DKFZp666G247;FLJ34709;GAS-6 AXL receptor tyrosine kinase ligand;AXL stimulatory factor;OTTHUMP00000018777;growth arrest specific 6;growth arrest-specific protein 6 APPROVED protein-coding ENSG00000183087 HGNC:4168 02705 600441 REVIEWED 7247504 GAS6-AS2 GAS6 antisense RNA 2 (head to head) 13 13 13 q34 95313020 95315675 + 114567150 114569806 + 113864177 113866832 + 16344560 100506394 ABBA01015946;AI401581;AMYH02028749;BX072579;BX109451;CA454201;CD517640;DA663147;HG505910;NG_029703;NR_044993 Hs.132168 ncrna ENSG00000272695 HGNC:43694 VALIDATED 6483935 GAS6-AS1 GAS6 antisense RNA 1 13 13 13 q34 95290991 95294432 + 114518583 114545814 + 113815610 113842841 + 12477932;14702039;16344560;23979857 650669 AA971263;ABBA01015948;ABBA01015949;AK092862;AK123478;AMYH02028748;AMYH02028749;BC137379;BX072579;BX385300;DA460725;HG505909;NR_044995 AAI37380 Hs.369201 FLJ35543;FLJ41484 APPROVED ncrna HGNC:39826 VALIDATED 1352089 GAS8-AS1 GAS8 antisense RNA 1 INTERACTS WITH disodium selenite 16 16 16 q24.3 75159854 75160847 - 90095316 90096309 - 90028908 90029901 - 6480464 12477932;15489334;9790751 750 O95177 ABBA01014116;AC133919;AF050080;AF050081;AMYH02032691;BC093751;BC104849;CH471184;NM_001214;NR_122031 AAC69520;AAC69521;AAH93751;AAI04850;EAW66662;NP_001205;O95177 Hs.633032 1674111;2220596 SHGC-61195;UniSTS:485715 C16orf3;MGC132509 hypothetical protein LOC750;uncharacterized protein C16orf3 APPROVED ncrna HGNC:1197 05534 605179 VALIDATED 8695220 GATA2-AS1 GATA2 antisense RNA 1 3 3 q21.3 128208036 128216768 + 128489193 128497925 + 16341674 101927167 AC080005;AI791648;AK024653;AMYH02007618;AMYH02007619;BC033667;BI258722;BM770141;HG496037;HG496039;NR_125398;XR_241561;XR_241562;XR_251442;XR_251443 Hs.287582;Hs.586109;Hs.730034 ncrna HGNC:51108 VALIDATED 1602401 GATA3-AS1 GATA3 antisense RNA 1 INTERACTS WITH (+)-catechin 10 10 10 p14 8017805 8020839 - 8092413 8095447 - 8050450 8053484 - 12477932;19692168;21037568;24056746;24149102;24743840 399717 ABBA01034729;AK128810;AL390294;AMYH02022091;AW611680;BC036297;BC128075;BC128097;BC141936;BC141937;BX089350;HG502654;HG502655;NG_015859;NR_024256;NR_104327;NR_104328;NR_104329;NR_104330;NR_104336 BAC87617 Hs.158992;Hs.568835;Hs.669736 1697152 RH102063 MGC165262;RP11-379F12.7 APPROVED ncrna ENSG00000197308;ENSG00000243350 HGNC:33786 13518 VALIDATED 1606808 GAPVD1 GTPase activating protein and VPS9 domains 1 ENCODES a protein that exhibits GTPase activating protein binding; guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of GTPase activity; regulation of protein transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; valproic acid 9 9 9 q33.3 98672084 98776400 + 128024073 128127290 + 125261794 125365011 + 6480464;8554872 10819331;12477932;14702039;15302935;15324660;16410077;17545148;18187620;18654987;19322201;20360068;21139048;21890473;21906983;22145905;22586326;22863883;22939629;24250222;24255178;24816145;7566098;8889548 26130 B0QZ65;B3KN67;B4DGD8;C9IZ08;C9IZX9;F8W9S7;H0Y4E7;H0Y7I9;Q14C86 AA303338;AB040954;ABBA01043778;ABBA01043779;ABBA01043780;ABBA01043781;ABBA01043782;ABBA01043783;ABBA01043784;ABBA01043785;ABBA01043786;AK000126;AK021533;AK023841;AK027049;AK056493;AK096224;AK294542;AK296381;AL080196;AL354710;AL627223;AL834325;AMYH02021645;AMYH02021646;AMYH02021647;AMYH02021648;BC010027;BC013635;BC021119;BC110990;BC114937;BC114962;BQ943187;CB243670;CH471090;DC318417;DQ233254;NM_001282679;NM_001282680;NM_001282681;NM_015635;XM_005251901;XM_005251904;XM_006717042;XM_006717043;XM_006717044 AAH13635;AAH21119;AAI14938;AAI14963;ABB71126;BAA90959;BAA96045;BAG51035;BAG51229;BAG53234;BAG57749;BAG59054;CAB45770;CAD38993;EAW87622;EAW87623;EAW87624;EAW87625;EAW87626;EAW87627;EAW87628;EAW87629;NP_001269608;NP_001269609;NP_001269610;NP_056450;Q14C86;XP_005251958;XP_005251961;XP_006717105;XP_006717106;XP_006717107 Hs.495134 1659849;1710910;1774158;2151146;2163844;2168155;5022200 A006S08;G29250;L18426;RH78630;SHGC-84077;STS-N33140;WI-11871 DKFZp434C212;GAPEX5;GAPex-5;KIAA1521;MGC138847;MGC138848;RAP6 GTPase-activating protein and VPS9 domain-containing protein 1;OTTHUMP00000022130;OTTHUMP00000196806;OTTHUMP00000215487;OTTHUMP00000215489;OTTHUMP00000215490;OTTHUMP00000215491;rab5-activating protein 6 protein-coding ENSG00000165219 HGNC:23375 10886 611714 VALIDATED 1349821 GAS7 growth arrest-specific 7 Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 9845239 10133053 - 9813926 10101868 - 9910609 10198551 - 1302235;1580863;6480464;8554872 9736752 10706619;11795944;12477932;12957285;15342556;15489334;15948147;16055720;16713569;19801671;19851296;19861958;19913121;20198315;20379614;20628086;20890993;20936779;21452305;21988832;22496485;22570627;22662195;23648065;24002674;24151073;7626897;8125298;9455477 8522 B7Z1Q2;B7Z2L1;J3KS47;J3KTB1;J3QLH8;J3QR80;J3QS26;O60861 AB007854;AB209030;ABBA01054967;ABBA01054968;ABBA01054969;ABBA01054970;ABBA01054971;ABBA01054972;ABBA01054973;AC000003;AC005747;AC026591;AC083783;AC107938;AJ224876;AK057761;AK225165;AK292987;AK293755;AK293834;AK294829;AK299574;AK307987;AK309722;AK315162;AMYH02032955;AMYH02032956;AMYH02032957;AMYH02032958;AMYH02032959;AMYH02032960;AY327406;BC001152;BC006454;BC113835;BP202727;BT006891;CH471108;KF456243;KF570257;NG_029502;NM_001130831;NM_003644;NM_201432;NM_201433;XM_005256831;XM_005256832;XM_005256833;XM_005256834;XM_005256835 AAH01152;AAH06454;AAI13836;AAP35537;AAP92798;ABM83728;ABM86836;BAA23690;BAD92267;BAF85676;BAG37606;BAH11588;BAH11606;BAH11897;BAH13071;CAA12177;EAW90011;EAW90012;EAW90013;NP_001124303;NP_003635;NP_958836;NP_958839;O60861;XP_005256888;XP_005256889;XP_005256890;XP_005256891;XP_005256892 Hs.462214 1335610;1335784;1647502;1653874;1656485;1690648;1712156;1733342;1752725;1758641;1774405;1776722;1777343;1792744;2111176;2129158;2154419;2156367;2160437;2161391;2165492;5022639;5118444;7183990;7184834;7186064 1604;AFMA070WD1;D11S2808;D11S3316;D17S1176;D17S2029;D17S2088;D17S2126;D17S804;D17S945;D17S961E;G54128;IB1318;NIB1921;PMC16012P1;RH12047;RH47234;RH65813;RH66481;SHGC-106570;SHGC-148988;SHGC-31752;WI-13490 GAS-7;KIAA0394;MGC1348;MLL/GAS7 MLL/GAS7 fusion protein;growth arrest-specific protein 7 APPROVED protein-coding ENSG00000007237 HGNC:4169 16011 603127 REVIEWED 731384 GATA1 GATA binding protein 1 (globin transcription factor 1) This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008] X X X p11.23 53010810 53018547 - 48644982 48652718 + 48786574 48794311 + 704404;1580863;6480464;7240710;8554872;8699517 10364157;10438528;10700180;11018012;11418466;11675338;11724781;11809723;11867225;12045236;12145700;12172547;12196550;12200364;12202480;12239153;12242665;12359731;12432220;12477932;12483298;12489695;12490288;12496368;12556498;12560215;12576332;12586620;12609092;12649131;12724402;12767938;12816863;12857954;14512321;14623254;14636651;14656875;14668799;14691578;14744791;14966463;15123623;15136229;15173587;15226423;15265794;15314183;15489334;15542823;15563463;15613485;15644435;15673499;15684376;15701726;15772651;15895080;15920471;15967790;16012335;16107690;16186125;16225938;16249385;16407974;16543218;16607277;16628190;16631833;16648487;16840187;16861236;17132730;17148589;17167422;17196618;17332341;17408401;17420275;17538848;17576817;17654061;17713552;17763153;17881640;18029348;18059480;18078130;18191920;18206727;18443038;18586828;18599389;18689547;18714007;18780834;18793746;18930124;18979367;19049973;19097174;19114560;19172521;19204726;19212333;19351817;19375645;19411634;19437340;19447160;19453261;19509292;19513100;19522008;19556247;19633202;19654328;19721012;19825991;19850750;19924028;19941826;19965638;1999341;20064153;20101202;20143233;20211142;20301538;20301769;20339093;20398657;20410505;20418238;20495378;20554972;20586925;20679399;20729467;20807505;20870473;20922527;21041734;2104960;21205752;21210118;21248262;21287369;21289305;21304100;21532337;21555453;21571218;21609963;21715302;21900206;21967505;21988832;22020876;22050843;22102271;22110660;22160620;22164220;22235304;22426104;22513796;22706301;22853316;2300555;23127762;23208504;23278136;23380710;23426981;23440243;23704091;23874683;24021668;24027798;24222239;24245781;24255919;24336126;24369834;24407241;24453067;24579914;24639354;2467208;24722188;24746204;24952648;7568177;7678994;8507862;8628290;9209374;9230307 2623 B7WNQ9;P15976 ABBA01046061;ABBA01046062;AC231533;AF196971;AI057349;AMYH02039308;BC009797;CH471224;M30601;NG_008846;NM_002049;X17254 AAA35885;AAH09797;CAA35120;EAW50749;EAW50750;EAW50751;NP_002040;P15976 Hs.765 1769162;1793274;1797566;2112844;2112862;2153598;5112478;5117526 DXS9855;DXS9874;GATA1_1983;GDB:192497;GDB:574073;PMC20354P2;RH47645;STS-X17254 ERYF1;GATA-1;GF-1;GF1;NF-E1;NFE1;XLANP;XLTDA;XLTT GATA-binding factor 1;NF-E1 DNA-binding protein;OTTHUMP00000023259;OTTHUMP00000023260;erythroid transcription factor;erythroid transcription factor 1;gata binding protein 1;globin transcription factor 1;nuclear factor, erythroid 1;transcription factor GATA1 APPROVED protein-coding ENSG00000102145 HGNC:4170 02372 190685;300367;300835;305371;314050 REVIEWED 737140 GATA4 GATA binding protein 4 This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Mutations in this gene have been associated with cardiac septal defects. [provided by RefSeq, Jul 2008] 8 8 8 p23.1-p22 10690994 10746848 + 11534433 11617510 + 11676924 11760001 + 1580390;704404;1580863;6480464;7240710;7207042;7207053;7207050;7327215;8554872;8699517 12845333;21059997;21373748;22293779;23948075 10446911;10728696;10790371;10801815;10948187;11003651;11158291;11297508;11481322;11585926;11724781;11994297;12477932;12530677;12530967;12606287;12606418;12775767;12907682;14578343;14583613;14612389;14702039;14984931;14988427;15153544;15235040;15337742;15389642;15485867;15542826;15585625;15653675;15666845;15810002;16110260;16137232;16159935;16337738;16341674;16470721;16556596;16604480;16607277;16823849;17211834;17253934;17290010;17352393;17403900;17548362;17584735;17592645;17643447;17805225;17848411;17912029;18055909;18076106;18227727;18252717;18405344;18426912;18653721;18672102;18983250;19008335;19018306;19276186;19302747;19353247;19353638;19479054;19509152;19543315;19649254;19666519;19678963;19781215;19913121;19915893;19918328;19995889;20041118;20081228;20133952;20201924;20206639;20211142;20222162;20347099;20363377;20450724;20554787;20585342;20592452;20595226;20628086;20654103;20659440;20807224;20833366;20874241;20931527;21055141;21060863;21110066;21184844;21220346;21276881;21330551;21464220;21519287;21609320;21631294;21637914;21673957;21708142;21815254;21834050;21874226;21933911;21945496;22011241;22018271;22043484;22101736;22192413;22215809;22472323;22500510;22552926;22648249;22773876;22959235;23029311;23049088;23138528;23215884;23239811;23320456;23626780;23745586;23746174;23888774;24000169;24041700;24083978;24089524;24182332;24284823;24330461;24366163;24415412;24416423;24498650;24862985;25017055;3413070;7665171;7721094;7791790;8007990;8455608;8978781;9207128;9312027;9566909;9568714;9857019;9858576;9927675 2626 B3KUF4;B6DU75;E9PKS4;E9PRI5;P43694;R4GND5 ABBA01026877;AC069185;AC090790;AF180736;AF318320;AK097060;AMYH02017441;AY740706;BC033672;BC068079;BC101580;BC105108;BC143434;BC143479;BM560562;BM768332;CH471157;D78260;DR003768;FJ169610;L34357;NG_008177;NM_002052;U28835;XM_005272384;XM_005272385;XM_005272386;XM_006716248;XM_006716249 AAA58496;AAA70335;AAI01581;AAI05109;AAI43435;AAI43480;AAL55827;AAW51922;ACI04537;BAA11334;BAG53416;EAW65620;EAW65621;NP_002043;P43694;XP_005272441;XP_005272442;XP_005272443;XP_006716311;XP_006716312 Hs.243987 1681275;1754435;1758635;1786702;1795900;2132924;2143392;2169795;2172970 D8S2053;G17268;GATA4_664;RH11694;RH91374;SHGC-132501;SHGC-148974;SHGC-154552;SHGC-33472 ASD2;MGC126629;TACHD;TOF;VSD1 GATA-binding factor 4;GATA-binding protein 4;OTTHUMP00000116010;OTTHUMP00000229495;transcription factor GATA-4 APPROVED protein-coding ENSG00000136574 HGNC:4173 08994 187500;600576;607941;614429;614430;615542 REVIEWED 734291 GATA2 GATA binding protein 2 This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] 3 3 3 q21.3 126626234 126639997 - 128198265 128212030 - 128479422 128493187 - 704404;1580863;6480464;6484113;7240710;8699517;8554872 10364157;10367888;10411939;10731672;10873593;10938104;11278891;11567998;11787775;11877047;11964310;12045236;12073612;12145700;12406094;12432220;12477932;12483298;12646178;12750312;1370462;14702039;15001660;15016828;15254248;15328158;15489334;1563207;15632071;15659347;15673499;15837948;16153155;16344560;16396960;16607277;16672344;16934006;16960339;17095623;1714909;17347142;17654061;18029348;18078130;18250304;18308945;18452556;18550858;18720385;18849568;19097174;19168794;19198610;19212333;19242469;19304323;19322201;19323994;19453261;19522008;19528235;19684615;19706030;19714312;19772889;19860791;19864173;19885677;19913121;19941826;20211142;20363750;20628086;20634887;20838640;21297973;21571218;21666600;21670465;21738478;21738480;21765025;21808000;21816832;21892158;21892162;21904383;21988832;22021428;22147895;22271902;22284968;22541434;22649106;22786876;22814295;22865859;22942019;22996659;23028422;23223431;23322776;23327922;23333304;23365437;23365458;23423786;23502222;23521373;23560626;23563236;23892628;24033149;24077845;24227816;24345756;24457600;24498120;24514424;24639354;24703711;24703906;24786211;7519472;7541039;7568177;7876160;8078582;8504932;8972903;9517987 2624 C9J965;P23769 ABBA01020897;AC080005;AF169253;AI524325;AK127845;AK314826;AMYH02007618;AMYH02007619;BC002557;BC015577;BC015613;BC018988;BC051272;BC051342;BT006671;BX647499;CH471052;DA636256;DA837371;JC009144;M68891;M77810;NG_029334;NM_001145661;NM_001145662;NM_032638 AAA35868;AAA35869;AAH02557;AAH15577;AAH15613;AAH18988;AAH51272;AAH51342;AAP35317;ABM83067;ABM86261;BAG37347;CDL93506;EAW79313;EAW79314;EAW79315;EAW79316;EAW79317;NP_001139133;NP_001139134;NP_116027;P23769 Hs.367725 1794806;1795896;2137137;2154871;5016763 D3S3103;GATA2_662;PMC58532P1;RH76244;SHGC-77315 DCML;FLJ45948;IMD21;MGC2306;NFE1B GATA-binding protein 2;MONOMAC;OTTHUMP00000216238;OTTHUMP00000216239;OTTHUMP00000216240;endothelial transcription factor GATA-2 APPROVED protein-coding ENSG00000179348 HGNC:4171 00673 137295;601626;614038;614172;614286 REVIEWED 733638 GATA3 GATA binding protein 3 This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009] 10 10 10 p15 8022059 8042539 + 8087294 8117164 + 8045473 8075201 + 704404;1358706;1580863;2314191;5128803;5128801;5128802;6480464;6484113;7240710;8554872;8699517 10935639;16336837;18186587;20118299;9949310 10037815;10212281;10364157;11076863;11256614;11389161;11724781;11937547;11970965;12057898;12087127;12217316;12477932;12767938;12960249;14757746;14985365;15016828;15087456;15251440;15328158;15361840;15489334;15489336;15563083;15632006;15637551;15699146;15826950;15947486;15975924;16087702;16317090;16357129;16381901;16498264;16509533;16912130;16922677;17057718;17074191;17075044;17078870;17111354;17114435;17114920;17117487;17210674;17234745;17272506;17277157;17357106;17381824;17390031;17445472;17445473;17616709;17628972;17654061;17658279;17703412;17845581;18006915;18029348;18037162;18079734;18154704;18212358;18260379;18268121;1827068;18338249;18410415;18445004;18533032;18607915;18619618;18676680;18701459;1871134;18772129;18826115;18849568;19043799;19057839;19059610;19082709;19084267;19092634;19094228;19170196;19189213;19232384;19247692;19248112;19248180;19253381;19258923;19261198;19336263;19342088;19346497;19411068;19452711;19473628;19483726;19549328;19559773;19615257;19625176;19639723;19659764;19674970;19692168;19719829;19723756;19728080;19735555;19798694;19805038;19861286;19946260;20130088;20154722;2017177;20189993;20211142;20237292;20237496;20333526;20368097;2050118;20503287;20660789;20696860;20716621;21037568;21048031;21114556;21120445;21157112;21242646;21289214;21329183;21334719;21399899;21468546;21611195;21638273;21682737;21743959;21761347;21878914;21892208;21930782;22019771;22039304;22120723;22336257;22391183;22607700;22706858;22909160;22951069;22951729;22982890;22985730;23063330;23172872;23203342;23266442;23291697;23308012;23354167;23375642;23395819;23413906;23428429;23430443;23435732;23446338;23453625;23549873;23577196;23599157;23604756;23715162;23817569;23906664;23939152;23996088;24061521;24068962;24121175;24134931;24141364;24145643;24149102;24235142;24235972;24315206;24346062;24390342;24421220;24477928;24660543;24711443;24713735;24743840;24745616;24813204;24824028;24925221;24926087;7592673;8088776;9020185;9819382 2625 P23771 ABBA01034729;AI024501;AI686327;AK298213;AL390294;AMYH02022091;AY497006;BC003070;BC006793;BC006839;BG287052;BM152193;CH471072;FB571433;FB571435;HI179114;HI179116;JC009146;M69106;NG_015859;NM_001002295;NM_002051;X55037;X55122;X58072;XM_005252442;XM_005252443 AAA35870;AAH03070;AAH06793;AAR32096;BAG60483;CAA38877;CAA38916;CAA41102;CAL37449;CAL37566;CAR95134;CAR95135;CBX53865;CBX53866;CDL93507;EAW86367;EAW86368;NP_001002295;NP_002042;P23771;XP_005252499;XP_005252500 Hs.524134 1647443;1656553;1773276;1773278;1795898;2179244;2179246 A005A11;D10S2148;G20258;GATA3_1519;RH17471;RH78856;SHGC-34122 HDR;HDRS;MGC2346;MGC5199;MGC5445 GATA-binding factor 3;OTTHUMP00000019070;OTTHUMP00000019071;gata-binding protein 3;trans-acting T-cell-specific transcription factor GATA-3 APPROVED protein-coding ENSG00000107485 HGNC:4172 00572 131320;146255 REVIEWED 735650 GATA6 GATA binding protein 6 This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012] 18 18 18 q11.1-q11.2 16555843 16588650 + 19749404 19782491 + 22169443 22202528 + 704404;1580863;2314194;6480464;7240710;8554872;8699517 19842842 10608869;10851229;11375995;11724781;11733512;11889139;12477932;12530677;12530967;12606287;12615657;12679484;12867597;12909592;12944489;12959982;14988427;15016828;15146197;15173203;15388788;15666845;15831526;15913546;16110260;16137232;16150495;16159937;16607277;16968778;17070195;17390031;17403900;17626241;17785913;17848411;18078765;18177748;18227727;18405344;18454176;18535672;18671946;18769116;19497978;19581290;19597127;19628789;19649254;19666519;19760754;19913121;20081228;20581743;20628086;20628624;20631719;20694014;20826533;20864106;21071980;21076612;21127043;21514437;21629665;21811562;21928112;21988832;22158542;22257684;22375031;22407241;22504665;22672670;22750565;22806356;22824924;22962692;23020118;23158662;23175051;23223019;23275439;23313142;23583651;23635550;23707782;23746070;23784465;24089524;24179092;24310933;24949533;8125298;8975704;9294001;9315713;9566909;9593712 2627 Q53EU2;Q92908 ABBA01022667;AC091588;AK223547;AMYH02034394;AMYH02034395;AMYH02034396;AU309820;BC027891;CH471088;CN280495;D87811;EF444980;HY052912;KF510135;KF510435;N91601;NG_032677;NM_005257;U66075;W19304;X95701;XM_005258248 AAC50941;AAH27891;ACA05995;BAA22621;BAD97267;CAA64997;EAX01137;NP_005248;Q92908;XP_005258305 Hs.514746;Hs.741506 1681722;1690750;1795902;5021890 GATA6_666;RH79922;RH91359;ha2207 ASD9;AVSD5;PACHD GATA-binding factor 6;GATA-binding protein 6;OTTHUMP00000162571;transcription factor GATA-6 APPROVED protein-coding ENSG00000141448 HGNC:4174 09043 187500;217095;600001;601656;614474;614475 REVIEWED 1354270 GATA5 GATA binding protein 5 The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 57773808 57786309 - 61038553 61051026 - 62463497 62475970 - 1580863;6480464 10567378;11375995;11408257;11780052;12011060;12477932;14612389;14715527;14986113;15489334;15585625;16337738;16823849;17912029;19509152;20222162;22028801;22483626;22625849;22641149;22961344;23031282;23175127;23289003;23295592;23535732;24766859;9566909 140628 Q9BWX5 ABBA01040084;AL499627;AMYH02037429;BC047790;BC117356;BC117358;CA443143;CH471077;HM015595;NM_080473;XM_006723699 AAH47790;AAI17357;AAI17359;ADL14516;EAW75360;EAW75361;NP_536721;Q9BWX5;XP_006723762 Hs.352250 1660467;1680278;1743385;1794546;2127639 GDB:315897;PMC317161P1;RH35919;RH94029;SHGC-35115 bB379O24.1 GATA binding factor-5;GATA-binding factor 5;GATA-binding protein 5;GATAS;OTTHUMP00000031490;transcription factor GATA-5 APPROVED protein-coding ENSG00000130700 HGNC:15802 17029 611496 REVIEWED 7247008 GATA6-AS1 GATA6 antisense RNA 1 (head to head) 18 18 18 q11.2 16553286 16555356 - 19746859 19749437 - 22166898 22168968 - 14702039;16341674;23382218;23846333 100128893 ABBA01022667;AC091588;AK123079;AMYH02034394;HG509834;HG509835;NG_032677;NR_102763 Hs.514745 RP11-627G18.3;locus5689 ncrna ENSG00000266010 HGNC:48840 VALIDATED 1606527 GATAD2B GATA zinc finger domain containing 2B ENCODES a protein that exhibits nucleosomal DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding; RNA polymerase II distal enhancer sequence-specific DNA binding; INVOLVED IN ATP-dependent chromatin remodeling; PARTICIPATES IN CHD family mediated chromatin remodeling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nuclear chromatin; nucleus; protein complex; INTERACTS WITH atrazine; cobalt dichloride; lead(0) 1 1 1 q21.3 126848798 126967204 - 153777201 153895451 - 153804725 153922975 - 6480464;9585661;8554872 24880148 10574461;11756549;12183469;12477932;14702039;15231748;15302935;15489334;16217013;16344560;16415179;16710414;16738318;16964243;18029348;18505370;19394292;19454010;20127688;20185820;21139048;21252943;21258344;21532573;21890473;22903471;22939629;23000965;23022380;23644463;23752268;24457600;24657165;24722188;24816145;25027693 57459 Q8WXI9 AB032976;ABBA01049452;ABBA01049453;ABBA01049454;ABBA01049455;ABBA01049456;ABBA01049457;ABBA01049458;ABBA01049459;AF411836;AI701819;AK094665;AL358472;AL513523;AL592152;AL831737;AMYH02001908;AMYH02001909;AMYH02001910;AMYH02001911;AMYH02001912;BC069419;BC112052;BC112080;CH471121;DA161156;NM_020699;XM_005245363;XM_005245364;XM_006711469 AAH69419;AAI12053;AAI12081;AAL39080;ABZ92028;BAA86464;BAG52906;EAW53270;NP_065750;Q8WXI9;XP_005245420;XP_005245421;XP_006711532 Hs.4779;Hs.596854 1653907;1693284;1722571;2121918;2167004;2219426 AL009292;G31105;G42345;G60216;P66beta__5807;RH18505 FLJ37346;KIAA1150;MGC138257;MGC138285;MRD18;P66beta;RP11-216N14.6;p68 GATA zinc finger domain-containing protein 2B;OTTHUMP00000035272;p66/p68;transcription repressor p66 beta component of the MeCP1 complex;transcriptional repressor p66-beta protein-coding ENSG00000143614 HGNC:30778 15094 614998;615074 VALIDATED 1605644 GATAD1 GATA zinc finger domain containing 1 The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] 7 7 7 q21-q22 86781302 86793279 + 92076762 92089381 + 92447448 92460067 + 6480464;8699517;8554872;7240710 12062807;12477932;12690205;14702039;15146197;1538749;16344560;18391951;20211142;20546612;21965549;21988832;23275563;23752268;24163370;8401586 57798 Q8WUU5 AB073650;ABBA01045803;AC000064;AC007566;AI352515;AI917195;AK026142;AK098014;AK315788;AL120665;AMYH02016265;BC019350;BC031091;BQ682550;BX098689;BX106375;CA848794;CH236949;CH471091;CK003484;CN264754;CN406304;CX759409;DA570882;DB257362;M78831;NG_032807;NM_021167;NR_052016;XR_428181;XR_428182 AAB46345;AAH19350;AAH31091;BAB15374;BAG38134;EAL24150;EAW76848;EAW76849;EAW76850;EAW76851;NP_066990;Q8WUU5 Hs.21145 1667289;1739351;1857268;2129919;2165014;2168416;5015619;5015879;5015961;5016478;5019070;5022578;5022588;5022651;5037552;5109281;5118576;7186122 D11S2921;D11S3114;D11S3430;D15S1477;D1S1423;D1S1425;D5S1597E;D7S2296E;D7S539E;D8S2279;G44334;GDB:314949;GDB:434012;RH68132;RH68599;RH69459;STS-W37495 CMD2B;FLJ22489;FLJ40695;ODAG;RG083M05.2 GATA zinc finger domain-containing protein 1;OTTHUMP00000161848;ocular development associated;ocular development-associated gene protein APPROVED protein-coding HGNC:29941 17656 614518;614672 REVIEWED 1606925 GATC glutamyl-tRNA(Gln) amidotransferase, subunit C ENCODES a protein that exhibits glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity; INVOLVED IN glutaminyl-tRNAGln biosynthesis via transamidation; mitochondrial translation; FOUND IN glutamyl-tRNA(Gln) amidotransferase complex; mitochondrion; INTERACTS WITH all-trans-retinoic acid; paracetamol; tamibarotene 12 12 12 q24.31 120518953 120536271 + 120884241 120901556 + 120446438 120463753 + 6480464 12477932;14702039;15489334;16541075;19805282;20877624;22939629;24579914;24816145 283459 F8VRU3;J3KMY1;O43716 ABBA01020121;AK094319;AL021546;AMYH02027375;BC034962;BC047778;BC064523;BC107145;BC107146;CH471054;NM_176818;NR_033684 AAI07146;AAI07147;BAG52859;EAW98193;NP_789788;O43716 Hs.706889 1685602;1687463;1711334;1746561;1847358;2108463;2127651;2176117;2176119;5015869;5021431;5022651 A002B13;Cda16c02;D11S2921;G19881;G64611;GDB:313261;L17702;RH44493;RH80576;SFRS9_8845;SHGC-84921;STS-W73277 15E1.2;FLJ37000;MGC129938 OTTHUMP00000045454;OTTHUMP00000240884;gatC-like protein;glu-AdT subunit C;glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial;glutamyl-tRNA(Gln) amidotransferase, subunit C homolog APPROVED protein-coding ENSG00000257218 HGNC:25068 15934 VALIDATED 1603219 GATAD2A GATA zinc finger domain containing 2A ENCODES a protein that exhibits protein binding, bridging; INVOLVED IN negative regulation of transcription, DNA-templated; PARTICIPATES IN CHD family mediated chromatin remodeling pathway; FOUND IN nucleus; NuRD complex; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; cobalt dichloride 19 19 19 p13.11 19400702 19523801 + 19496642 19619741 + 19385833 19508932 + 6480464;9585661 24880148 12183469;12477932;14702039;15489334;16169070;16344560;16415179;16738318;16751776;16964243;18029348;18854154;19322201;19454010;19471022;20201926;21258344;21532573;21693764;21890473;21906983;21963094;22939629;23239876;23667531;23752268;23974872;24250222;24816145;25027693;8125298 54815 B4DKZ7;C9JGN4;C9JHD7;C9JJK9;C9JMI3;C9JVY3;H7C3H1;Q86YP4;V9GY85;V9GYX5 ABBA01051329;ABBA01051330;ABBA01051331;ABBA01051332;ABBA01051333;AC003030;AC011448;AC092067;AK000092;AK024670;AK125974;AK225198;AK296781;AK303482;AK315416;AL390164;AMYH02035754;AMYH02035755;AMYH02035756;AMYH02035757;AY186731;BC009034;BC011684;BC012902;BG773264;BU632713;CH471106;DB123918;DQ573509;KC877710;NM_001300946;NM_017660;XM_005259954;XM_005259956;XM_005259957;XM_005259958;XM_005259959;XM_005259960;XM_005259961;XM_005259962;XM_006722780;XM_006722781 AAH11684;AAH12902;AAO31797;ABZ92025;BAA90939;BAG59359;BAG64518;CAB99095;EAW84819;EAW84820;EAW84821;EAW84822;EAW84823;NP_001287875;NP_060130;Q86YP4;XP_005260011;XP_005260013;XP_005260014;XP_005260015;XP_005260016;XP_005260017;XP_005260018;XP_005260019;XP_006722843;XP_006722844 Hs.118964 1658155;1770129;2136990;2175610;2180138 A003N27;D19S1121;D19S707E;RH66356;WI-15057 FLJ20085;FLJ21017;p66alpha GATA zinc finger domain-containing protein 2A;OTTHUMP00000201911;OTTHUMP00000201912;hp66alpha;p66 alpha;transcriptional repressor p66-alpha protein-coding ENSG00000167491 HGNC:29989 11741 614997 VALIDATED 6997497 GATM-AS1 GATM antisense RNA 1 5014051;5015619;5021872;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;sY3084 miscrna VALIDATED 735826 GAST gastrin Gastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic factor for gastrointestinal epithelial cells. Gastrin has two biologically active peptide forms, G34 and G17. [provided by RefSeq, Jul 2008] 17 17 17 q21 36519728 36523335 + 39868578 39872221 + 41712326 41715969 + 1580863;6480464 10771309;11054648;11181948;11278902;11710799;12006703;12174892;12477932;12612900;14627349;14660571;14719064;14729624;15040018;15489334;15533775;15655830;15682471;15949639;16174078;16228228;16341674;16547500;16574647;16638693;16754659;17006979;17064691;17207965;17229384;17258885;17332476;17559360;17604853;17698249;17889508;17922093;18057001;18234640;18438722;18473402;18577758;18609694;19031134;19166966;19664057;19674135;19731026;19794299;20145424;20395538;20932834;21029692;21111741;21175799;21186400;21195058;21222340;21274374;21509655;22037174;22110279;22112435;22366915;22532184;22593272;23121767;24086717;24210828;24388886;2730647;2736261;3011648;3034736;463490;5822140;5921183;6087340;6322186;6324077;6574456;6689486;7488110;7530658;8055952;8240296;8244378;8244379;8504433;871064;9369230;9645429;9797370;9855703 2520 AAB19304;P01350 ABBA01006455;ABBA01006456;AC109319;AC130686;AMYH02033411;BC069724;BC069762;BM768483;BM768762;CH471152;K01254;M15958;NG_009090;NM_000805;V00511;X00183 AAA52520;AAB19304;AAB59533;AAH69724;AAH69762;ADQ32945;CAA23769;CAA25005;CAA25006;CAA25007;EAW60756;NP_000796;P01350 Hs.2681 1741155;1790339;1853772 D17S2114;GAS;GDB:178387 GAS OTTHUMP00000164741;preprogastrin APPROVED protein-coding ENSG00000184502 HGNC:4164 00671 137250 REVIEWED 731936 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008] 15 15 15 q21.1 22544733 22562401 - 45653322 45670980 - 45361124 45378782 - 1599823;1300048;1599822;1580863;70746;6480464;6907045;7240710;8554872;8699517 2685430;2752493;8021264 10893433;11555793;12324495;12468279;12477932;12701824;12709373;14702039;15489334;15978539;16344560;16614068;16769397;16820567;17101918;19430482;20301334;20301745;20360068;20383146;20682460;20877624;21988832;23010440;24004504;24047826;3800397;8125298;8313955;9148748;9165070;9218780;9266688;9915841 2628 H0YKW9;H0YL75;H0YLC6;H0YMX4;H0YN43;P50440 ABBA01039184;ABBA01039185;AC025580;AK098055;AK098393;AK223585;AK294995;AK298350;AMYH02030357;BC004141;BC039389;CD365153;CH471082;DB048816;DB457418;NG_011674;NM_001482;S68805;XR_424635;XR_429525;XR_433091 AAB29892;AAH04141;BAD97305;BAG58060;BAG60595;EAW77306;EAW77307;EAW77308;NP_001473;P50440 Hs.560354;Hs.729565;Hs.75335 1644786;1670046;1685203;1776793 HSC2JH052;RH91509;SHGC-35470;STS-S68805 AGAT;AT;CCDS3 L-arginine:glycine amidinotransferase;OTTHUMP00000162120;glycine amidinotransferase, mitochondrial;transamidinase APPROVED protein-coding ENSG00000171766 HGNC:4175 03838 602360;612718 REVIEWED 6997503 GATM-AS1 GATM antisense RNA 1 15 15 q15.1 45670898 45672321 + 45378700 45380123 + 14702039;16344560 145663 ABBA01039184;AC025580;AK056979;AMYH02030357;NR_033252 Hs.729565 ncrna HGNC:27073 MODEL 2306471 GATSL2 GATS protein-like 2 INTERACTS WITH 17beta-estradiol 7 7 7 q11.23 94555567 94604910 - 74807605 74867341 - 74964986 75024699 + 6480464 12477932;12853948;21139048;21906983;9847074 729438 A6NHX0 ABBA01014634;ABBA01014635;ABBA01014636;ABBA01014637;AC004166;AC004878;AC118138;AC124781;AC245150;BC147030;BC147031;BC150658;CR743064;DN831814;DN831815;DR731193;NM_001145064 A6NHX0;A6NNH0;AAI47031;AAI47032;AAI50659;NP_001138536 Hs.647031;Hs.647048;Hs.647505 1655622;1673222;2145936 GDB:1234266;GDB:4585539;GDB:4585659 GATSL1 GATS protein-like 1;GATS-like protein 1;GATS-like protein 2;OTTHUMP00000210486 protein-coding HGNC:37073 VALIDATED 1319930 GBA3 glucosidase, beta, acid 3 The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013] 4 4 4 p15.2 23145479 23272083 + 22694537 22821198 + 22692914 22819575 + 1580863;6480464;6907045;8554872 11043382;11389701;11530211;11784319;12477932;12560567;12594539;12667141;12719582;15322500;15489334;16547752;1704656;1736542;17555766;17595169;18662675;20728381;2076345;21139048;2136376;2187500;21988832;2283726;2355006;2541446;2542563;2649653;2829950;2959866;3099781;3264072;3918500;8093218;8125298;8218172;8673525;9109416 57733 A8K9N1;B7Z536;Q9H227 AB017913;ABBA01032667;ABBA01032668;AC093917;AF317840;AF323990;AJ278964;AK222963;AK292746;AK298377;AK313189;AMYH02008881;AMYH02008882;AMYH02008883;BC029362;BC070188;BC101829;BC109377;BC136264;BP383134;CB163648;CH471069;NM_001128432;NM_001277225;NM_020973;NR_102355;NR_102356;NR_102357 AAG39217;AAH29362;AAH70188;AAI01830;AAI09378;AAI36265;AAL37305;BAB18741;BAD96683;BAF85435;BAG36006;BAH12772;CAC08178;EAW92802;EAW92803;NP_001121904;NP_001264154;NP_066024;Q9H227 Hs.653107 1644085;1654054;1686042;2110201;2123788 D4S1118;G33991;RH93679;SHGC-24823;stb328e24.p1 CBG;CBGL1;GLUC;KLrP;MGC104276;MGC126878 OTTHUMP00000218214;OTTHUMP00000218216;cytosolic beta-glucosidase;cytosolic beta-glucosidase-like protein 1;glucosidase, beta, acid 3 (cytosolic);klotho-related protein APPROVED protein-coding ENSG00000249948 HGNC:19069 09428 606619 REVIEWED 1607089 GBA glucosidase, beta, acid This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] 1 1 1 q21 128277514 128287929 - 155204239 155214653 - 155234448 155244862 - 5508431;5508423;5508435;5508424;5508426;5508429;5508434;5508422;5508425;5508427;5508433;6480464;6907045;7240710;8554872;8699517 11994410;15610510;16601670;19945510;20528910;20838799;20947659;20971030;21112800;21242499;21252206 10079102;10340647;10352942;10360404;10447266;10527671;10649495;10744424;11584048;11708865;11933202;12048121;12107439;12173027;12359135;12360742;12360744;12434014;12477932;12482401;12587096;12667141;12754519;12792654;12803123;12972024;14728994;14757764;14994233;15146461;15322500;15489334;15517591;15517592;15525722;15591280;1572652;15857183;1594045;15954102;15967693;15982918;16086325;16148263;16223608;16329099;16344560;16476943;16781064;16790605;16830265;16861620;16981045;1698821;16996765;17187079;17427031;17462935;17574891;17620502;17689991;17702778;17703984;17713797;17875915;17897319;17996473;18022370;18030725;18074383;18078074;18160183;18178337;18264947;18313951;18332251;18338393;18429048;18434642;18541113;18562733;18586535;18586596;18619939;18674488;18829375;18852351;18979180;18987351;1899336;19224617;19260119;19279008;19279011;19286695;19332698;19383421;19394250;19425057;19433656;19433657;19458969;19459886;19460752;19527940;19578116;1972019;1974409;19846850;19882201;19913121;19953087;20004703;20053430;20131388;20148966;20177787;20182943;20223112;20301387;20301402;20301446;20425034;20580583;20628086;20643691;20700730;20729108;20816920;20980259;20980263;21087600;21098288;21221911;21338444;21569768;21621439;21633851;21653695;21674799;21700325;21723784;21734182;21742527;21745757;21831682;21856586;21889374;21915911;21963094;22001711;22021190;22160715;22167193;22173904;22192918;22220748;22227325;22268729;22282650;22344629;22352271;22387070;22427207;22442429;22451204;22493294;22542428;22658918;22659419;22797727;22803570;22812582;22935721;2295698;22968580;23034917;23035075;23062841;23079555;23151436;23225227;23227814;23255161;23413260;23418083;23426826;23434032;23448517;23490118;23580063;23588557;23635853;23639447;23676350;23699752;23719189;23811968;23812893;23936319;24070323;24095219;24126159;24219755;24243800;24262184;24351928;2438102;24434810;24477431;24531622;24574503;24756352;24919969;25036637;2914709;3001061;3353383;3359914;3456607;3472750;3547401;3687939;3863141;3864160;4003396;6091633;6455062;6816512;6885065;7613473;7627184;7627192;7916532;8076951;8112750;8118460;8188616;8294033;8432537;8694790;8780099;8790604;8829654;8829663;8889578;8889591;8907609;8937765;9040001;9061570;9153297;9182788;9217217;9225972;9279145;9331372;9516376;9554454;9554746;9637431;9650766;9683600;9705233;9851895 2629 B7Z6S9;P04062 ABBA01016711;AC217785;AF023268;AK291911;AK298900;AK300186;AK300829;AK300876;AK301374;AK301879;AK302000;AK311242;AK312502;AL547558;AL713999;AMYH02001941;AU122729;AU131071;AU140959;AU141794;BC003356;BI458641;BX382279;BX477204;BX648487;CH471121;D13286;DC297079;J03059;K02920;KJ690771;KJ690773;M16328;M18916;M18917;M19285;M20248;M20282;M22212;NG_009783;NM_000157;NM_001005741;NM_001005742;NM_001171811;NM_001171812;XM_006711270;XM_006726211 AAA35873;AAA35874;AAA35875;AAA35876;AAA35877;AAA35878;AAA35879;AAA35880;AAC51820;AAC63056;AAH03356;AID60277;AID60279;BAA02545;BAF84600;BAG35404;BAH12898;BAH13232;BAH13357;BAH13365;BAH13467;BAH13574;BAH13605;EAW53100;EAW53101;EAW53102;EAW53103;NP_000148;NP_001005741;NP_001005742;NP_001165282;NP_001165283;P04062;XP_006711333;XP_006726274 Hs.282997 1688088;1693192;1743623;1767193;1772020;1772022;1850167;2107139;2155245;2191751;5016572 AL034327;D1S3500;G06424;GBA__6791;GDB:361159;GDB:607681;MARC_6921-6922:996689842:1;RH69089;RH71037;RH71038;humgcb1 GBA1;GCB;GLUC D-glucosyl-N-acylsphingosine glucohydrolase;OTTHUMP00000033992;OTTHUMP00000033993;acid beta-glucosidase;alglucerase;beta-GC;beta-glucocerebrosidase;glucosylceramidase;imiglucerase;lysosomal glucocerebrosidase APPROVED protein-coding ENSG00000177628 HGNC:4177 06973 127750;168600;230800;230900;231000;231005;606463;608013 REVIEWED 1353690 GBAP1 glucosidase, beta, acid pseudogene 1 INTERACTS WITH methyl methanesulfonate; tamoxifen; valproic acid 1 1 1 q21 128256899 128270601 - 155183616 155197325 - 155213825 155227534 - 6480464 11381033;12180141;12477932;14702039;1572652;16344560;1698821;22797727;2295698;2438102;2914709;8294033;8751878;9331372 2630 ABBA01016712;AC217785;AC234582;AF023268;AF267177;AK090514;AK295259;AK297653;AL713999;AMYH02001941;BC000349;BC030240;BC062626;BC092482;D13287;DB192327;J03060;KF455035;KJ690774;KJ690775;KJ690776;M22213;NR_002188 AID60280;AID60281;AID60282;BAG58248;BAG60020 Hs.719930 1767193;2107139;2155245;2191751 G06424;GBA__6791;MARC_6921-6922:996689842:1;RH69089 GBAP;MGC104662;MGC40022;MGC8614 APPROVED pseudo ENSG00000160766 HGNC:4178 VALIDATED 1317305 GATB glutamyl-tRNA(Gln) amidotransferase, subunit B ENCODES a protein that exhibits glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity; INVOLVED IN glutaminyl-tRNAGln biosynthesis via transamidation; mitochondrial translation; FOUND IN glutamyl-tRNA(Gln) amidotransferase complex; mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; copper(2+) sulfate 4 4 4 q31.3 149915711 150006079 - 152591808 152682175 - 151670656 151761023 - 1580863;6480464 11042152;12477932;12665801;15342556;17903297;18029348;19805282;20877624;21139048;24816145;8125298;9878253 5188 B4E0P2;D6RDU9;D6REA0;D6RGY4;H0Y8G7;H0Y9F2;H0Y9W6;O75879 AB019410;ABBA01070118;ABBA01070119;AC092611;AF026851;AF151033;AK222887;AK225241;AK303461;AK312957;AMYH02010306;BC067838;BC130348;BC136547;BP348031;BX537555;CH471056;NM_004564;XM_005263063 AAD08640;AAF36119;AAI30349;AAI36548;AAY40897;BAD96607;BAG35796;BAG64504;CAH56162;EAX04981;EAX04982;EAX04983;NP_004555;O75879;XP_005263120 Hs.119316 1690161;1712290;1723373;1772728;2108353;2130190;2139036;2181021;2185764;5491699 G24097;G54054;MARC_8163-8164:996688339:1;PET112L_8531;RH118426;RH92902;SHGC-34696;SHGC-36970;SHGC-50453;SHGC-59699 HSPC199;PET112;PET112L OTTHUMP00000220541;OTTHUMP00000220542;PET112 homolog;PET112 {ECO:0000255|HAMAP-Rule:MF_03147};cytochrome c oxidase assembly factor PET112 homolog;cytochrome oxidase assembly factor PET112 homolog;glu-ADT subunit B;glu-AdT subunit B {ECO:0000255|HAMAP-Rule:MF_03147};glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial;glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial {ECO:0000255|HAMAP-Rule:MF_03147};probable glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial APPROVED protein-coding ENSG00000059691 HGNC:8849 04706 603645 VALIDATED 1605219 GATS GATS, stromal antigen 3 opposite strand ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; atrazine; benzo[a]pyrene 7 7 7 q22.1 94533628 94605191 - 99798276 99869855 - 100200653 100272232 - 6480464;8554872 12477932;12690205;14702039;16344560;24250222 352954 Q8NAP1;Q96NI1 ABBA01013224;ABBA01013225;ABBA01013226;ABBA01013227;ABBA01013228;AC005071;AC073842;AK055399;AK056608;AK091418;AK092358;AK095056;AK124689;AK290039;AK290237;AK290510;AL831967;AMYH02016375;AMYH02016376;AMYH02016377;BC033723;BC044886;BC053367;BC065200;BC090867;BC100778;BC100779;BC100780;BC100781;BX420354;CH236956;CH471091;CR749506;CS300729;DA737015;H18847;NM_178831;NR_028038;NR_028039;NR_028040 AAH33723;AAH44886;AAH53367;AAH65200;AAH90867;BAB70916;BAC03870;BAF82728;BAF82926;BAF83199;BAG52355;BAG54069;CAH18327;CAK32393;EAL23844;EAL23845;EAW76562;EAW76563;EAW76564;EAW76565;NP_849153;Q8NAP1 Hs.556063 1651249;1662119;1675437;1677504;1685317;1786414;2119628;2141129;2141131;2147514;2147781;2172708;2180420;2180422;2218062;5019070;5022450;5022578;5037552;5492853 A002N20;A004W23;D10S275;D1S1423;D7S2074E;D8S2279;G44334;GDB:4585356;GDB:4585375;RH12482;RH47305;RH47646;RH80607;RH92424;RH94384;SHGC-172008;SHGC-5628;STAG3_3530;UniSTS:483034;WI-13802 DKFZp686B07267;STAG3OS OTTHUMP00000207678;STAG3 opposite strand transcript protein;opposite strand transcription unit to STAG3;putative protein GATS;stromal antigen 3 opposite strand protein-coding ENSG00000239521 HGNC:29954 17030 VALIDATED 2306475 GATSL3 GATS protein-like 3 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; calcitriol; cisplatin 22 22 22 q12 14480787 14485320 - 30681106 30685616 - 30285118 30289627 - 6480464;8554872 10591208;12477932;14702039;15461802;15489334;15790807;15998911;16344560;24449572 652968 B7WPJ3;F2Z2C1;F2Z3I9;F8WD52;H7C2U7;Q8WTX7 ABBA01055293;AC004997;AK055587;AK309436;AK310246;AMYH02038214;BC021927;CH471095;CR456449;DA343534;NM_001037666 AAC23432;AAC23433;AAH21927;BAB70963;CAG30335;CAK54431;CAK54730;EAW59867;EAW59868;EAW59869;EAW59870;NP_001032755;Q8WTX7 Hs.444950 1678285 RH11179 GATS-like protein 3;OTTHUMP00000198746;OTTHUMP00000198747 protein-coding ENSG00000239282 HGNC:34423 VALIDATED 1313721 GBA2 glucosidase, beta (bile acid) 2 This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35670413 35682776 - 35736863 35749925 - 35736862 35749228 - 1580863;6480464;8699517;7240710;8554872 10997877;11489889;11530211;12477932;12560567;12719582;14702039;15164053;15489334;16547752;1704656;17105727;1736542;18829375;19933215;20301682;20427274;2076345;2136376;21724649;21832049;21837367;2187500;22659419;2283726;23073830;23250757;23332916;23332917;2355006;23880767;24070122;24252062;24275721;24337409;2541446;2542563;2649653;2829950;2959866;3099781;3264072;8093218;8218172;8673525;9109416;9111029 57704 Q9HCG7 AB046825;ABBA01064987;AF258662;AJ309567;AK027884;AK057610;AK295967;AK297435;AL133410;AL834306;AMYH02019464;BC011363;CH471071;NG_033899;NM_020944;XM_005251526;XM_005251528;XM_006716809;XM_006716810;XM_006716811;XM_006716812 AAG44660;AAH11363;BAB13431;BAB55430;BAG59862;BAH12232;CAC83792;CAD38976;EAW58345;EAW58346;EAW58347;EAW58348;EAW58349;NP_065995;Q9HCG7;XP_005251583;XP_005251585;XP_006716872;XP_006716873;XP_006716874;XP_006716875 Hs.443134 1670551;1768836;2134503;2191095 MARC_14565-14566:1009474916:1;RH11800;WI-19282;WI-20292 AD035;DKFZp762K054;KIAA1605;MGC16895;SPG46 NLGase;OTTHUMP00000022759;OTTHUMP00000022760;beta-glucocerebrosidase 2;beta-glucosidase 2;bile acid beta-glucosidase;glucosylceramidase 2;non-lysosomal glucosylceramidase;spastic paraplegia 46 (autosomal recessive) APPROVED protein-coding ENSG00000070610 HGNC:18986 13569 609471;614409 REVIEWED 1345241 GBAS glioblastoma amplified sequence This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 7 7 7 p12 67085720 67121305 + 56032270 56067875 + 55964577 56000182 + 1580863;6480464 11076863;11256614;12477932;14676191;14702039;15489334;15489336;16212417;16381901;18187620;18457437;19615732;20562859;20877624;20888800;21145461;21890473;23443559;24137763;24255178;24654937;24816145;9615231;9661659 2631 C9J7B1;C9K068;F8WBI5;H7C333;O75323 ABBA01061843;AC092579;AF029786;AJ001259;AK097049;AK125036;AK315648;AMYH02015749;BC000732;BC001837;BC030821;BT007112;BU753659;CH471140;CR407612;CX166452;NM_001202469;NM_001483 AAC29002;AAH00732;AAH01837;AAH30821;AAP35776;ABM83235;ABM86434;CAA04633;CAG28540;CAL37716;EAX07966;EAX07967;NP_001189398;NP_001474;O75323 Hs.591069 1660331;1666082;1672265;1712258;1768147;2161939 D7S2116E;D7S2765;G54037;RH66175;SHGC-17265;WI-20833 NIPSNAP2 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 2;OTTHUMP00000159734;OTTHUMP00000209309;glioblastoma-amplified sequence;protein NipSnap homolog 2 APPROVED protein-coding ENSG00000146729 HGNC:4179 04302 603004 REVIEWED 5128748 GBP1P1 guanylate binding protein 1, interferon-inducible pseudogene 1 1 1 1 p22.2 88118992 88136231 + 89873238 89890493 + 89407679 89424934 + 400759 ABBA01045587;AK309962;AL691464;AMYH02001434;NR_003133 Hs.661968 FLJ17004 pseudo ENSG00000225492 HGNC:39561 VALIDATED 736152 GBP2 guanylate binding protein 2, interferon-inducible This gene belongs to the guanine-binding protein (GBP) family, which includes interferon-induced proteins that can bind to guanine nucleotides (GMP, GDP and GTP). The encoded protein is a GTPase which hydrolyzes GTP, predominantly to GDP. The protein may play a role as a marker of squamous cell carcinomas. [provided by RefSeq, Jul 2013] 1 1 1 p22.2 87819109 87837605 - 89571815 89591842 - 89106132 89126159 - 1580863;6480464 11096456;12107410;12447867;12477932;14702039;16169070;16344560;1715024;17517895;18985028;19003964;19912588;20237496;20923658;21151871;21900206;22863883;22864358;22970192;23086406;8125298;8706832;8723115 2634 P32456;Q8TCE5 ABBA01045589;AC104459;AI085798;AI400402;AI445567;AK002150;AK057968;AK122866;AK226018;AK314325;AMYH02001434;BC022272;BC073163;BM993865;CA390345;CH471097;CR457062;DB229415;DB274428;M55543;NM_004120 AAA67323;AAH22272;AAH73163;BAG36973;CAG33343;EAW73146;NP_004111;P32456 Hs.386567;Hs.732899;Hs.734162 1720519;1797568;2129293;2142498 G59213;GBP2_2313;SHGC-75111;WI-9135 DKFZp451C2311;GBP-2;huGBP-2 GTP-binding protein 2;OTTHUMP00000012392;OTTHUMP00000012393;guanine nucleotide-binding protein 2;interferon-induced guanylate-binding protein 2 APPROVED protein-coding HGNC:4183 02682 600412 REVIEWED 1349801 GBP3 guanylate binding protein 3 This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. [provided by RefSeq, Jul 2008] 1 1 1 p22.2 87718156 87734345 - 89472360 89488556 - 89006677 89022880 - 6480464 12387898;12477932;14702039;15489334;16710414;20237496;22106366;24816145;7518790;8889548 2635 F6SPX6;F6X827;H3BNS1;H3BP53;H3BPH2;H3BRX6;Q5T8M0;Q9H0R5 ABBA01045589;AK001823;AK309096;AL136680;AL139416;AL160008;AMYH02001433;BC017992;BC063819;BC140837;BC144650;BU678920;CH471097;CR936755;CR936758;JF927951;NM_018284;XM_005270741;XM_005270742;XM_005270743;XM_005270744;XM_006710574 AAH17992;AAI40838;ACE86932;ACE86938;ACE87619;ACE87626;AEI54565;CAB66615;EAW73151;EAW73152;EAW73153;NP_060754;Q9H0R5;XP_005270798;XP_005270799;XP_005270800;XP_005270801;XP_006710637 Hs.720167 1760373;2108111;5094886 GBP1;GBP3_8366;SHGC-142092 DKFZp686E0974;DKFZp686L15228;FLJ10961;GBP-3 GTP-binding protein 3;OTTHUMP00000012353;OTTHUMP00000012354;OTTHUMP00000012355;OTTHUMP00000194787;guanine nucleotide-binding protein 3;guanylate-binding protein 3;guanylate-binding protein 3 delta C APPROVED protein-coding ENSG00000117226 HGNC:4184 02683 600413 REVIEWED 1321567 GBP4 guanylate binding protein 4 Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008] 1 1 1 p22.2 87892646 87910446 - 89646831 89664633 - 89181148 89198950 - 1580863;6480464;8554872 12477932;16108726;16689661;20237496;20379614;23333304;23867815;9659399 115361 Q96PP9 ABBA01045588;AC104459;AF288814;AK131094;AK304245;AK312417;AL832576;AMYH02001434;BC008421;BC017889;BC050625;BC070055;CA309701;CH471097;NM_052941 AAH17889;AAH70055;AAL02054;BAC85144;BAG35327;BAG65113;CAD89936;EAW73142;EAW73143;EAW73144;NP_443173;Q96PP9 Hs.409925 1691958;1715755;1749881;1853567;2175076;5014051;5015619;5020229;5021872;5022651;5037552 AL009524;AL033631;D11S2921;D11S3114;D8S2278;D8S2279;L17770;RH119325;SHGC-111607;SHGC-75091;sY3084 GBP-4;Mpa2 GTP-binding protein 4;OTTHUMP00000012394;guanine nucleotide-binding protein 4;guanylate-binding protein 4 APPROVED protein-coding ENSG00000162654 HGNC:20480 13570 612466 VALIDATED 1323562 GBP1 guanylate binding protein 1, interferon-inducible Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3. [provided by RefSeq, Jul 2008] 1 1 1 p22.2 87763799 87776851 - 89517987 89531043 - 89052304 89065360 - 1580863;6480464;8554872 10383748;10676968;11397834;11598000;12414522;12477932;12488461;12543931;12766061;12881412;14741045;15489334;15504415;15937107;16005050;16009940;16511497;16712791;16873363;16894355;16936281;1715024;18260761;18697200;18697840;19079332;19150356;19223260;19463820;19604093;20237496;20450919;20454519;20483731;20716116;20923658;21151871;21714544;22059445;22162832;22266860;22607347;22692453;22859948;22863883;22939629;23042300;23086406;23727578;24190970;24337748;24816145;24991938;7518790;8830800 2633 P32455 AB208912;ABBA01045589;AK291783;AK298032;AK303893;AL160008;AMYH02001433;AY920436;BC002666;BF058809;BT006847;CB164272;CD676970;CH471097;M55542;NM_002053;XM_006710573 AAA35871;AAH02666;AAP35493;AAX13805;ABM81685;ABM84850;BAD92149;BAF84472;BAG60334;BAG64827;EAW73148;EAW73149;EAW73150;NP_002044;P32455;XP_006710636 Hs.62661 1848555;1852361 SHGC-12771;SHGC-30461 GBP-1;huGBP-1 GTP-binding protein 1;OTTHUMP00000012352;guanine nucleotide-binding protein 1;guanylate binding protein 1, interferon-inducible, 67kDa;interferon-induced guanylate-binding protein 1 APPROVED protein-coding ENSG00000117228 HGNC:4182 02681 600411 VALIDATED 1351614 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 9 9 9 q34.13-q34.3 106570015 106580979 - 136028335 136039320 - 133152948 133163945 - 1580863;6480464;6907045 10506200;12107410;12477932;12975309;14702039;15164053;15489334;19218399;20800603;21627641;22419656;23240079;23255552;8855242 26301 J7Q0Z1;Q5T7U8;Q5T7V0;Q8N5D6 ABBA01032469;ABBA01032470;AK074639;AK074944;AK291498;AK303825;AK307687;AK314097;AL162417;AMYH02021823;AY358175;BC032499;BI906086;CA397865;CH471090;CQ782915;DQ145941;HE583599;HY315485;NG_033868;NM_001282629;NM_001282632;NM_001288572;NM_001288573;NM_021996 AAH32499;AAQ88542;AAZ38721;BAC11106;BAF84187;BAG36792;BAH14061;CAF86142;CCD30590;EAW88043;EAW88044;EAW88045;EAW88046;EAW88047;NP_001269558;NP_001269561;NP_001275501;NP_001275502;NP_068836;Q8N5D6 Hs.495419 1298236;1738239 D9S1198;D9S2157 A3GALNT;FS;MGC44848;RP11-326L24.6;UNQ2513 Forssman glycolipid synthetase (FS);Forssman synthetase;OTTHUMP00000022446;OTTHUMP00000022447;OTTHUMP00000022448;forssman glycolipid synthase-like protein APPROVED protein-coding ENSG00000148288 HGNC:20460 16193 606074 REVIEWED 1352199 GBX1 gastrulation brain homeobox 1 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN adult walking behavior (inferred); neuron fate commitment (inferred); proprioception (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 6-propyl-2-thiouracil (ortholog); acetaldehyde (ortholog) 7 7 7 q36.1 145403014 145422208 - 150845676 150864867 - 151148589 151167548 - 1580863;6480464;8554872 12853948;16597639;7903253;8097731 2636 Q14549 ABBA01035163;AC010973;AMYH02017070;AMYH02017071;L11239;NM_001098834;X59519 AAA36002;AAI60003;NP_001092304;Q14549 1667501;1716279 GDB:1318236;RH121168 Huh-17 OTTHUMP00000213380;gastrulation and brain-specific homeobox protein 1;gastrulation brain homeo box 1;homeobox protein GBX-1 protein-coding ENSG00000164900 HGNC:4185 603354 VALIDATED 1348762 GBX2 gastrulation brain homeobox 2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN autonomic nervous system development (inferred); axon guidance (inferred); cerebellar granule cell precursor proliferation (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); paracetamol; trichostatin A 2 2 2 q37.2 230787441 230789786 - 237074307 237076652 - 236165664 236168009 - 1334477;1334478;1580863;6480464 8838315;9346236 10690529;12477932;15815621;15931389;17060451;20237496;23549873;23722424;7903253;9537237 2637 F8VY47;P52951 AA176205;ABBA01042571;AC079135;AF118452;AK311262;AMYH02006051;BC137448;BC137449;BC144646;BE463746;BF115559;CH471063;NM_001301687;NM_001485;U02080;U31468;XM_005246071 AAA17406;AAC03241;AAD39907;AAI37449;AAI37450;AAX93240;EAW71084;NP_001288616;NP_001476;P52951;XP_005246128 Hs.184945;Hs.735751 2141331;2218542 GBX2_4093;RH65560 OTTHUMP00000164400;gastrulation and brain-specific homeobox protein 2;gastrulation brain homeo box 2;homeobox protein GBX-2 protein-coding ENSG00000168505 HGNC:4186 03087 601135 VALIDATED 1601687 GBP7 guanylate binding protein 7 Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008] 1 1 1 p22.2 87843240 87887538 - 89597434 89641723 - 89131751 89176040 - 6480464;8554872 14702039;16689661;20459687 388646 Q8N8V2 ABBA01045588;AC104459;AK096141;AMYH02001434;CH471097;NM_207398 AAI56124;AAI57016;BAC04709;EAW73145;NP_997281;Q8N8V2 Hs.591450 1645643;2171322 AL010053;D1S3150 FLJ38822;GBP-7;GBP4L GTP-binding protein 7;OTTHUMP00000012389;guanine nucleotide-binding protein 7;guanylate-binding protein 4-like;guanylate-binding protein 7 APPROVED protein-coding ENSG00000213512 HGNC:29606 13432 612468 VALIDATED 1354251 GBP6 guanylate binding protein family, member 6 Guanylate-binding proteins, such as GBP6, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008] 1 1 1 p22.2 88075199 88099482 + 89829436 89853719 + 89363758 89388160 + 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15489336;16344560;16381901;16689661;19199708;20237496;20423481 163351 Q6ZN66 ABBA01045587;ABBA01045588;AI199897;AK096454;AK131329;AK131356;AK290303;AK299408;AK299466;AK303987;AK315834;AL691464;AMYH02001434;BC131713;BX537949;BX647907;CH471097;DA437660;DA447005;NM_198460;XM_005270549;XM_006710393 AAI31714;AAI46700;BAD18489;BAD18509;BAF82992;BAF98725;BAG61390;BAG61432;BAG64904;CAD97917;CAL37463;EAW73139;NP_940862;Q6ZN66;XP_005270606;XP_006710456 Hs.254338 1695964;1763685 SHGC-147364;SHGC-78924 DKFZp686G0786;FLJ39135;GBP-6 GTP-binding protein 6;OTTHUMP00000011819;guanine nucleotide-binding protein 6;guanylate-binding protein 6 APPROVED protein-coding ENSG00000183347 HGNC:25395 13572 612467 VALIDATED 1320598 GBE1 glucan (1,4-alpha-), branching enzyme 1 The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008] 3 3 3 p12.3 82281720 82553857 - 81538850 81810950 - 81489699 81761799 - 1580863;1601279;1642743;6480464;6907045;7240710;8554872;8699517 6449198;8613547 10384399;10533307;10545044;10762170;12477932;14557872;14702039;15019703;15452297;15489334;15592455;16169070;16254601;17915577;17994551;18289670;18392749;19056867;19322201;19913121;20058079;20300197;20301758;20379614;20628086;20800603;20816195;21139048;21252943;21890473;21906983;21988832;22305237;22797925;22939629;22943850;23000965;23034915;23218673;23285490;23455924;24248152;24501781;24654937;6220706;8059607;8463281;9851430 2632 E9PGM4;Q04446;Q59ET0 AB209731;ABBA01031050;ABBA01031051;ABBA01031052;ABBA01031053;AC017015;AC025029;AC099049;AK125918;AK297939;AK300620;AK312245;AMYH02007150;BC012098;BE614098;BM509929;BQ022720;BQ632568;CH471110;L07956;NG_011810;NM_000158 AAA58642;AAH12098;ABW03793;BAD92968;BAG54265;BAG60255;BAG62313;EAW68879;EAW68880;NP_000149;Q04446 Hs.436062 1650260;1735102;1743087;1754043;1768135;1776365;1777522;2125385;2152239;2154184 Bdy18e01;D3S2780E;G16592;GDB:251825;RH36490;RH45132;RH69848;SHGC-12433;SHGC-132085;WI-4729 APBD;GBE;GSD4 1,4-alpha-glucan-branching enzyme;OTTHUMP00000213788;OTTHUMP00000213833;amylo-(1,4 to 1,6) transglucosidase;amylo-(1,4 to 1,6) transglycosylase;brancher enzyme;glycogen branching enzyme;glycogen-branching enzyme 2315897 GLUCO187_H APPROVED protein-coding ENSG00000114480 HGNC:4180 01985 232500;263570;607839 REVIEWED 1315291 GCA grancalcin, EF-hand calcium binding protein This gene product, grancalcin, is a calcium-binding protein abundant in neutrophils and macrophages. It belongs to the penta-EF-hand subfamily of proteins which includes sorcin, calpain, and ALG-2. Grancalcin localization is dependent upon calcium and magnesium. In the absence of divalent cation, grancalcin localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions, suggesting a role for grancalcin in granule-membrane fusion and degranulation. [provided by RefSeq, Jul 2008] 2 2 2 q24.2 156810897 156829481 + 163200583 163236525 + 162318823 162379967 + 1580863;6480464 10903868;11279160;11717497;12477932;12804766;1530588;15489334;15815621;16713569;17207965;1737748;18029348;18071670;18285833;18330356;19056867;19156166;19322201;20237496;20800603;23255161;24816145;9441591 25801 C9JIZ3;C9JV47;C9JWQ8;H7BXD5;H7C2Z6;P28676 AB209768;ABBA01004893;AC007740;AC010876;AK295413;AK312349;AMYH02005094;BC005214;BQ005142;CH471058;M81637;NM_012198;XM_005246446;XM_006712398;XM_006712399;XM_006712400;XM_006712401 AAA58498;AAH05214;AAX93138;ADQ32845;BAD93005;BAG35270;BAH12058;EAX11350;EAX11351;NP_036330;P28676;XP_005246503;XP_006712461;XP_006712462;XP_006712463;XP_006712464 Hs.377894 1730107;2107143;2121578;2128721;2144376 D2S1927E;D2S2559;GCA__6795;RH1483;RH36533 GCL OTTHUMP00000162937;OTTHUMP00000204639;OTTHUMP00000204640;grancalcin;grancalcin, EF-hand calcium-binding protein;grancalcin, penta-EF-hand protein APPROVED protein-coding HGNC:15990 06122 607030 VALIDATED 1342777 GCATP1 glycine C-acetyltransferase pseudogene 1 14 14 14 q23.2 44111229 44112703 - 64060570 64062044 - 63593852 63595326 - 319140 ABBA01018330;AL136038;AMYH02029339;NG_002517 2145268 SHGC-30609 GCATP APPROVED pseudo HGNC:20013 INFERRED 1352654 GCC1 GRIP and coiled-coil domain containing 1 The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq, Jul 2008] 7 7 7 q32.1 122024410 122029382 - 127220682 127225654 - 127580628 127585600 - 1580863;6480464 10209125;12446665;12477932;12690205;12972563;14702039;15489334;15654769;16189514;16713569;17914056;18029348;19060904;21139048;21832049;21988832;22158537;22558309;22939629;24722188;24816145 79571 A4D0Z4;Q96CN9 ABBA01057684;AC000357;AF525417;AK025688;AK092878;AK315472;AL832833;AMYH02016707;BC008902;BC014100;BC078665;CH236947;CH471070;NM_024523 AAH08902;AAH14100;AAH78665;AAM91948;ADZ15539;BAB15218;BAG37858;BAG52618;EAL24321;EAW83628;EAW83629;NP_078799;Q96CN9 Hs.521168 1768981;1771973;1799990;1801830;1801946;1802458;1802620;1802738;1824976;1846686;2088732;2088734;2088736;2088738;2088740;2088742;2088744;2088746;2088748;2088750;2088752;2088754;2088756;2088758;2088760;2088762;2088764;2088766;2088768;2088770;2088772;2088774;2088776;2088778;2088780;2088782;2088784;2088786;2088788;2088790;2088792;2116059;2128309;2196916;2196918;2196920;2196922;2196924;5093348 A009L46;D7S2127E;ECD00849;ECD01796;ECD01854;ECD02115;ECD02197;ECD02256;ECD13587;G32666;REN115625;REN115626;REN115627;REN115628;REN115629;REN115630;REN115631;REN115632;REN115633;REN115634;REN115635;REN115636;REN115637;REN115638;REN115639;REN115640;REN115641;REN115642;REN115643;REN115644;REN115645;REN115646;REN115647;REN115648;REN115649;REN115650;REN115651;REN115652;REN115653;REN115654;REN115655;RH11808;SHGC-56778;WI-13320;stSG613717;stSG613718;stSG613719;stSG613720;stSG613721 FLJ22035;GCC1P;GCC88;MGC20706 GRIP and coiled-coil domain-containing protein 1;OTTHUMP00000025208;golgi coiled-coil 1;golgi coiled-coil protein 1;peripheral membrane Golgi protein APPROVED protein-coding ENSG00000179562 HGNC:19095 07599 607418 REVIEWED 1322285 GBP5 guanylate binding protein 5 ENCODES a protein that exhibits identical protein binding; INVOLVED IN GTP catabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsane; arsenic atom 1 1 1 p22.2 87970432 87984342 - 89724633 89738544 - 89258950 89272861 - 1580863;6480464;8554872 12477932;12975309;14996095;15175044;15489334;16189514;17266443;18260761;19946888;20180847;20237496;21151871;22461501;23333304;23898208 115362 E7ETN8;Q96PP8 ABBA01045588;AC099063;AF288815;AF328727;AF430642;AF430643;AK090479;AK315064;AL832285;AMYH02001434;AY358953;BC031639;BC033761;CD367361;CH471097;NM_001134486;NM_052942 AAH31639;AAH33761;AAL02055;AAN39035;AAN39036;AAO40731;AAQ89312;ABM86576;ABW03667;BAC03460;BAG37538;EAW73141;NP_001127958;NP_443174;Q96PP8 Hs.513726 2171450 SHGC-75115 GBP-5 GBP-TA antigen;GTP-binding protein 5;OTTHUMP00000011691;OTTHUMP00000011818;guanine nucleotide-binding protein 5;guanylate-binding protein 5 protein-coding HGNC:19895 13571 611467 VALIDATED 1316187 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] 10 10 10 q24 97746227 97883548 + 104005255 104142656 + 102245498 102382899 + 1580863;6480464;6484113;8554872 10402461;11031247;11252894;12047556;12168954;12477932;12634853;12646181;15164054;15302935;15324660;15489334;15616190;15813748;16318580;16344560;16385451;16565220;16926190;16956762;17079330;17329336;17353931;17429068;17666033;17956946;18003980;18029348;18063581;18084281;18287014;18524849;18551169;18799457;19023417;19039328;19740986;19773279;19906930;19913121;19946888;20164217;20175751;20379614;20497182;20504936;20530568;20562859;20628086;20854417;21139048;21722633;21789191;21890473;21906983;21909260;21963094;22185782;22359663;22360420;22573891;22863883;23000965;23383273;23386609;23418352;23703321;23825951;23956138;24255178;24816145;25036637;9039502;9828135 8729 Q149P0;Q149P1;Q92538 ABBA01063161;ABBA01063162;ABBA01063163;ABBA01063164;AF068755;AI859700;AK024916;AK025153;AK025330;AL121928;AL160011;AL356420;AMYH02023690;AMYH02023691;AMYH02023692;AMYH02023693;AMYH02023694;BC007941;BC014171;BC032543;BC094763;BC117681;BC117682;CH471066;D87435;DA176540;DA772398;NM_001199378;NM_001199379;NM_004193;XM_005270261;XM_006718047;XM_006718048;XM_006718049;XM_006718050;XM_006718051 AAD15903;AAH07941;AAH14171;AAH32543;AAH94763;AAI17682;AAI17683;BAA13379;EAW49707;NP_001186307;NP_001186308;NP_004184;Q92538;XP_005270318;XP_006718110;XP_006718111;XP_006718112;XP_006718113;XP_006718114 Hs.290243 1670680;1675154;1684278;1687115;1855112;2107141;2121780;2142089;2149691 AFM183xb12;AFMa301wf1;GBF1__6792;RH44262;RH44724;RH44977;RH45663;RH80701;RH80779 ARF1GEF;FLJ21263;FLJ21500;KIAA0248;MGC134877;MGC134878 BFA-resistant GEF 1;Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1;OTTHUMP00000020365;golgi-specific brefeldin A resistance factor 1;golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1;golgi-specific brefeldin A-resistance factor 1 APPROVED protein-coding ENSG00000107862 HGNC:4181 04740 603698 REVIEWED 736902 GC group-specific component (vitamin D binding protein) The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] 4 4 4 q12-q13 69964129 70006624 - 72607410 72671237 - 71741678 71805520 - 1331525;1580863;2315537;2315540;2315548;2315558;5509870;5509873;5509874;5509882;5509883;5129516;5509886;1625796;5509922;5509866;5509919;5509920;5509921;5509923;5509933;5509934;5509918;5509885;5509929;5509931;2316214;5509868;5509869;5509872;5509887;5509932;6480464;7240710;8554872 11239198;11239517;11521994;12044990;12050214;12096683;12137326;15118671;15509515;16080911;16868893;17929958;18334925;18807170;19000909;19324981;19845402;20054029;20093204;21136918;21169467;21416056;21683810;21832969;21844150;2737695;2883392;3838933;3948765;9517617;9548303 11436564;11717447;11757623;11785295;11799400;12048248;12051678;12062854;12119014;12189808;12452439;12477932;12554937;12580408;12938159;12942785;12947140;12968673;1352271;1374401;14523999;14718422;14718574;14987123;15059409;15115254;15230135;1535333;15485893;15583024;15607028;15648851;15717311;15866120;15951480;1602151;16115686;16169070;16269129;16309986;16400520;16502470;16600026;16648359;16684836;1696927;17113648;17244366;17342072;17428459;17763387;17763397;17763400;17785430;18029348;18038108;18303991;18374965;18559548;18593774;18624398;18676680;18686987;18768522;19116321;19131662;19170196;19255064;19263529;19302999;19453261;19479237;19559392;19625176;19692168;19729601;19797128;19852851;19913121;20079467;20086113;20363324;20418485;20424473;20536507;20541252;20562129;20588308;20628086;20654748;20733087;20809279;20812960;20819447;20847308;21042807;21357399;21416506;21440908;21684333;21810276;218624;21972121;21988832;22144504;22158084;22232734;22292037;22296203;22576297;22583563;22610885;22673963;22704802;22771520;22785457;22801813;22887780;22916037;22986152;23027064;23070913;23180681;23185470;23190755;23191998;23213074;23257976;23312379;23339019;23409077;23414198;23425651;23456391;23468552;23544077;23548751;23734184;23857798;23894780;23924835;24007655;24064663;24073854;2415926;2415977;2416779;24170105;2423133;24239294;24447085;24455835;24518592;24730464;24745702;2824652;2958390;3015768;3552627;3936035;4054306;558959;7026425;7505619;7606167;7703225;7725672;7759070;8125298;8324227;8325650;8381387;8495753;8786133;9821970 2638 D6RBJ7;D6RF20;D6RF35;P02774 AA702473;ABBA01022972;AC024722;AK223458;AK290827;AK298433;AK309595;AK312971;AK315853;AMYH02009444;BC022310;BC057228;BX494962;CH471057;EU794674;KF457777;L10641;M17156;NG_012837;NM_000583;NM_001204306;NM_001204307;S54074;S67480;S77129;S77130;X03178;XM_006714177 AAA19662;AAA61704;AAB29423;AAD13872;AAD14249;AAD14250;AAH57228;ACJ13728;BAD97178;BAF83516;BAF98744;BAG60654;CAA26938;EAX05645;NP_000574;NP_001191235;NP_001191236;P02774;XP_006714240 Hs.418497 1341684;1674773;1682341;1742357;1794030;1794034;1794036;2116509;2128981;2134061;2143942;2187239 D4S2389;GDB:196472;PMC310762P2;PMC310762P4;PMC310762P5;RH68432;SHGC-24721;SHGC-33816;SHGC-50400;SHGC-59541;SHGC-67593;SHGC4-18 DBP;DBP/GC;GRD3;HEL-S-51;VDB;VDBG;VDBP OTTHUMP00000160364;OTTHUMP00000218973;OTTHUMP00000218974;OTTHUMP00000218975;epididymis secretory protein Li 51;gc-globulin;vitamin D-binding alpha-globulin;vitamin D-binding protein APPROVED protein-coding ENSG00000145321 HGNC:4187 00749 139200 REVIEWED 1345642 GCF1 growth control factor 1 2640 HGNC:4190 1316396 GCAT glycine C-acetyltransferase The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010] 22 22 22 q13.1 22005704 22014976 + 38203906 38213183 + 37807901 37817326 + 1580863;6480464;6907045 10591208;10712613;12174908;12477932;15342556;15489334;20877624;21145461;21988832;22268729;22797925;3536927 23464 A8K228;C9IZC9;F2Z340;H7BZ75;O75600 ABBA01055488;AF077740;AK123190;AK290093;AMYH02038341;BC014457;BP309052;CH471095;NM_001171690;NM_014291;XM_005261409;XM_005261410;XM_005261411;XM_006724172;Z97630 AAC27720;AAH14457;BAC85552;BAF82782;EAW60189;EAW60190;NP_001165161;NP_055106;O75600;XP_005261466;XP_005261467;XP_005261468;XP_006724235 Hs.54609 1658023;2110445;2128201;2149861;2185040;5015619 D11S3114;G29683;G31469;H1F0__7560;RH17516;STS-W90034 KBL;MGC23053 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial;2-amino-3-ketobutyrate-CoA ligase;AKB ligase;OTTHUMP00000198188;OTTHUMP00000198189;aminoacetone synthase;glycine acetyltransferase APPROVED protein-coding ENSG00000100116 HGNC:4188 07602 607422 REVIEWED 1318826 GCDH glutaryl-CoA dehydrogenase The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013] 19 19 19 p13.2 12891682 12900491 + 13001943 13010813 + 12891129 12902421 + 1580863;6480464;6907045;7240710;8554872;8699517 10699052;10960496;10985795;11705404;12477932;1438360;15057824;15274622;15489334;15985591;16341674;16344560;16368216;17176108;17314511;17474147;17661081;18775954;19862010;19913121;20032085;20301313;20301334;20514322;20628086;20732827;20877624;21139048;21163940;21811973;21912879;21944461;21968293;22231382;22268729;22797925;23225040;23395213;23798571;24816145;3081514;7490088;7795610;8088809;8541831;8900227;8900228;9600243;9711871 2639 B4DK85;K7EKH1;K7EKT3;K7EQ99;K7ER63;K7ERX1;K7ES74;K7ESA6;Q92947 ABBA01029763;AD000092;AF012342;AK098370;AK290407;AK296446;AK298772;AK300841;AK309892;AMYH02035560;AU135567;BC002579;BM855466;BT006706;CH471106;DA286320;NG_009292;NM_000159;NM_013976;NR_102316;NR_102317;S77773;U69141;XM_006722720;XM_006722721 AAB08455;AAB34724;AAB51174;AAC52079;AAH02579;AAP35352;BAF83096;BAG59097;BAG60914;BAG62492;EAW84324;EAW84325;EAW84326;NP_000150;NP_039663;Q92947;XP_006722783;XP_006722784 Hs.532699 1728741;1743629;1744825;1767823;1770857;2120472;2181893;2183210;5016496;5016715;5117488;5117490 D19S1133;G49216;GDB:362952;GDB:568756;GDB:568776;GDB:568779;GDB:568782;RH17829;RH44737;RH99313;SHGC-24430;WI-17002 ACAD5;GCD glutaryl-CoA dehydrogenase, mitochondrial;glutaryl-Coenzyme A dehydrogenase APPROVED protein-coding ENSG00000105607 HGNC:4189 01977 231670;608801 REVIEWED 1312440 GCFC2 GC-rich sequence DNA-binding factor 2 The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008] 2 2 2 p12 75721111 75769393 - 75889831 75938482 - 75662705 75711356 - 6480464 10480038;10500253;12477932;1370479;14702039;15302935;15489334;15815621;16341674;16344560;16713569;17081983;17309879;17474147;19471022;20189245;20379614;20846247;21988832;22745009;23752268;24304693;2556218;9705290 6936 A4UHQ9;A4UHR0;B3KUM5;C9JII4;H7C335;P16383;Q9BVX3;S4R3C1;S4R461;S4R465 AB026911;ABBA01075624;AC005034;AK097564;AMYH02004097;BC000853;BC064559;BG506463;BM749635;BQ880304;BU189326;BU568226;BU623860;BU628451;BU852546;BU853933;BX109258;CH471053;DB259435;DB455842;EF158467;EF158468;EF158469;NM_001201334;NM_001201335;NM_003203;XM_005264520;XM_005264521;XR_426995 AAH00853;AAH64559;AAY14973;ABO84856;ABO84857;ABO84858;BAA85386;BAG53487;EAW99586;EAW99587;EAW99588;EAW99589;NP_001188263;NP_001188264;NP_003194;P16383;XP_005264577;XP_005264578 Hs.303808;Hs.662279;Hs.710597 1669054;1672349;1675983;1677244;1715747;2159730;2174302 D2S2740;FB3B11;RH119320;RH66286;RH92243;RH99131;SHGC-53332 C2orf3;DNABF;GCF;TCF-9;TCF9 GC binding factor;GC bindng factor;GC-rich sequence DNA-binding factor;OTTHUMP00000160450;OTTHUMP00000202779;transcription factor 9 (binds GC-rich sequences) APPROVED protein-coding ENSG00000005436 HGNC:1317 01791 189901 VALIDATED 2306474 GATSL1 GATS protein-like 1 INTERACTS WITH benzo[a]pyrene (ortholog) 7 q11.23 74422144 74438909 + 6480464 12477932;12853948;21906983 389523 A6NNH0 AC004166;AC124781;AC245150;BC147030;BC147031;BC150658;DN831815;DR731193;NM_001145063 A6NNH0;AAI47031;AAI47032;AAI50659;NP_001138535 Hs.647048;Hs.647505 1655622;1673222;1676138;2145936 GDB:1234266;GDB:4585539;GDB:4585659;RH79612 GATS-like protein 1;OTTHUMP00000245962 protein-coding HGNC:37072 VALIDATED 1345739 GCH1 GTP cyclohydrolase 1 This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008] 14 14 14 q22.1-q22.2 35358210 35419030 - 55308723 55369603 - 54842005 54902885 - 1580863;1601280;1601281;6480464;6907045;7240710;8554872;8699517 15909293;7874165 10076897;10078749;10208576;10582612;10732814;10825351;10907721;10987649;11087823;11087827;11113234;11284739;11359069;11486899;11580249;11937441;11956954;12084887;12176133;12391354;12477932;12607127;12821132;12925450;14551046;14717702;1482676;1520321;15303002;15489334;15604419;15679701;15721862;15753436;15852365;16149046;16267845;16338639;16643317;16696853;1669853;16778797;17044972;17101830;17111153;17343757;17363416;17407085;17410324;17557242;17655760;17717598;17804835;17898029;18029348;18044725;18202219;18276179;18358407;18374612;18410856;18515178;18554280;18598896;18752196;18824773;19011239;19014702;19081190;19101819;19104007;19195260;19292934;19294699;19332422;19442649;19491146;19515581;19533203;19566901;19573577;19615732;19674121;19735094;19775452;19851158;19913121;19926872;19959292;20108370;20187889;20301334;20301681;20418482;20437540;20491893;20581851;20628086;20633294;20838263;20842020;20937667;21037510;21181356;21422102;21674621;21733738;21834904;21896313;21900206;21969008;21988832;22068827;22172551;22293547;22373569;22446963;22770721;22798524;22971341;22976901;22984419;23059057;23211702;23251661;23314412;23322459;23762320;23782819;24018121;24124602;24136375;2463916;25119902;3318829;3753653;7501255;7678411;7730309;7802677;8068008;8298648;8666288;8695054;8702680;8852666;8889548;8957022;9092499;9222755;9445252;9576537;9667588;9778264 2643 P30793;Q8IZH9 ABBA01018198;ABBA01018199;AF321276;AL133444;AL160471;AMYH02029222;AMYH02029223;AMYH02029224;AY137463;AY137464;AY137465;BC025415;BM971258;CH471061;CR536551;D38602;D38603;L29478;NG_008647;NM_000161;NM_001024024;NM_001024070;NM_001024071;S43856;S44049;S44053;U19259;U19523;U66095;U66097;XM_005267530;Z16418;Z29433;Z29434;Z30952 AAB16861;AAB23164;AAB23165;AAB23166;AAB42186;AAB60633;AAD38866;AAD38868;AAH25415;AAK51704;AAN17459;AAN17460;AAN17461;ABM83924;ABM87244;CAA78908;CAA83213;CAB77391;CAB77392;CAG38788;EAW80647;EAW80648;EAW80649;EAW80650;EAW80651;EAW80652;EAW80653;NP_000152;NP_001019195;NP_001019241;NP_001019242;P30793;XP_005267587 Hs.86724 1336594;2120102;2129467;2131248;2175912 D14S1057;D14S1190;D14S1260;D4S283;G35399 DYT14;DYT5;DYT5a;GCH;GTP-CH-1;GTPCH1;HPABH4B GTP cyclohydrolase I;GTP-CH-I;OTTHUMP00000178993;OTTHUMP00000244920;OTTHUMP00000244921;dystonia 14;guanosine 5'-triphosphate cyclohydrolase I APPROVED protein-coding ENSG00000131979 HGNC:4193 02573 128230;233910;600225 REVIEWED 1349515 GCHFR GTP cyclohydrolase I feedback regulator GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008] 15 15 15 q15 17824178 17827804 + 41056285 41059911 + 40764087 40767713 + 728623;1580863;6480464;8554872 8702680 11580249;11799107;12477932;12607127;1286669;15489334;15649650;16696853;16778797;17101830;17135716;18372436;18457437;19101819;19674121;19913121;19926872;20351752;20628086;20848231;8125298;9092499 2644 H0YNM1;H0YNX7;P30047 ABBA01038432;AC012476;AK223430;AK311872;AMYH02030255;BC112262;BC112264;BC143904;CH471125;NM_005258;U78190 AAB37337;AAI12263;AAI12265;AAI43905;ADR82786;BAD97150;BAG34813;EAW92442;EAW92443;NP_005249;P30047 Hs.631717 1777632;2131151 RH70706;SHGC-56869 GFRP;HsT16933;MGC138467;MGC138469;P35 GTP cyclohydrolase 1 feedback regulatory protein;GTP cyclohydrolase I feedback regulatory protein;OTTHUMP00000160546 APPROVED protein-coding ENSG00000137880 HGNC:4194 03895 602437 REVIEWED 68970 GCG glucagon The protein encoded by this gene is actually a preproprotein that is cleaved into four distinct mature peptides. One of these, glucagon, is a pancreatic hormone that counteracts the glucose-lowering action of insulin by stimulating glycogenolysis and gluconeogenesis. Glucagon is a ligand for a specific G-protein linked receptor whose signalling pathway controls cell proliferation. Two of the other peptides are secreted from gut endocrine cells and promote nutrient absorption through distinct mechanisms. Finally, the fourth peptide is similar to glicentin, an active enteroglucagon. [provided by RefSeq, Jul 2008] 2 2 2 q36-q37 156609679 156619210 - 162999379 163008914 - 162142869 162152404 - 1580863;2315015;2313224;6480464;6484113;8554872 16929363;19654434 10322410;10605628;10861272;10990079;11116211;11278902;11375130;11738243;11943215;11946536;11961492;11972291;12036966;12174892;12387900;12436337;12459036;12477932;12519856;12524435;12540594;12554744;12626323;12627948;12651102;12736145;12810581;12960095;14517773;14522730;14557443;14608103;14632334;14719035;14988249;15002062;15111524;15289644;15489334;15533774;15616022;15664668;15671479;15815621;15821104;15897480;15899957;15983224;16125528;16131602;16132964;16142014;16153418;16201096;16202636;16362283;16401467;16563563;16736556;16754659;16787987;16828127;16988001;17141269;17160672;17164779;17290009;17324423;17344652;17609256;17688385;17724330;17846745;17901057;17944883;18080106;18180317;18198306;18223636;18240029;18248821;18298441;18413175;18445652;18499738;18534636;18575785;18577758;18596108;18695009;18760331;18770489;18832087;18996102;19051206;19077438;19229515;19351867;19556358;19631991;19664300;19703531;19737911;19808921;19819966;19837920;19881250;19913121;19924023;19936703;19948975;20001917;20008019;20040695;20100914;20188316;20194524;20305008;20460948;20470376;20580750;20628086;20682687;20816021;20871975;20939591;21048796;21167157;21324568;21384500;21419173;21454562;21454584;21623172;21666414;21677044;21707949;21722955;21744074;21798957;21813805;21822931;21915820;22037645;22100593;22147710;22186413;22319034;22349073;22422137;22516009;22534628;22564875;22750392;22806360;22807616;22809889;22893257;22901716;22914550;22929437;23020846;23031433;23064014;23077074;23110179;23213228;23231933;23239758;23244065;23266825;23269670;23314196;23377698;23485142;23509106;23519462;23548652;23579541;23684008;23820621;23864340;23937086;23953602;23956349;24089513;24167603;24185078;24236650;24296715;24443715;24464714;24489924;24507870;24525020;24854384;24875097;2753890;2901414;3569278;3725587;6546710;6877358;7340337;7929237;8382034;8482423;8538742;9287128;9667960;9990065 2641 P01275 ABBA01004891;AC007750;AI818268;AMYH02005094;BC005278;BG654603;BM272442;BT006813;CB069629;CH471058;J04040;NM_002054;V01515;X03991;X05386;X05387;X05388 AAA52567;AAH05278;AAP35459;AAY24204;ABM83447;ABM86658;CAA24759;CAA27627;EAX11356;EAX11357;EAX11358;NP_002045;P01275 Hs.516494;Hs.741174 1661461;1669846;1711440;1741513;1753737;2139386;2217358 D2S2553;GCG;GCG_3981;GDB:181269;RH68969;SHGC-89190;WI-18974 GLP1;GLP2;GRPP OTTHUMP00000204570;glicentin-related polypeptide;glucagon-like peptide 1;glucagon-like peptide 2;preproglucagon APPROVED protein-coding ENSG00000115263 HGNC:4191 00676 138030 REVIEWED 69010 GCGR glucagon receptor The protein encoded by this gene is a glucagon receptor that is important in controlling blood glucose levels. Defects in this gene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010] 17 17 17 q25 76365499 76375377 + 79762010 79771889 + 81804132 81814013 + 704404;1580863;1625208;1625210;2315004;6480464;7240710;8554872 15687107;17010343;7773293 11692154;11707539;11961492;12036966;12477932;12536714;12626323;12724331;15188402;15489334;165216;17374560;18240029;19051206;1908089;19578796;19903011;20647307;21680267;21988832;22119466;22438981;22893257;23185367;23407487;23863937;24359917;24527772;24749050;6303843;7507321;7589886;8020989;8144028;8382034;8563746;9105899;9287038 2642 I3L1L8;I3L454;P47871 ABBA01019646;AC145207;AC174470;AJ245489;AK307234;AK314247;AMYH02034137;BC104854;BC112041;BJ997148;CH471099;DA639395;L20316;L24751;NG_016409;NM_000160;U03469;XM_006722276;XM_006722277 AAA35897;AAA53628;AAC52063;AAI04855;AAI12042;CAB52383;EAW89684;NP_000151;P47871;XP_006722339;XP_006722340 Hs.208 1699960;5491473 MARC_14771-14772:1010669884:1;RH103588 FLJ97182;GGR;GL-R;MGC138246 2289501;2289511;2315441;2315444;2316339 BW444_H;BW453_H;GLUCO140_H;GLUCO234_H;INSUL42_H APPROVED protein-coding ENSG00000215644 HGNC:4192 00678 125853;138033 REVIEWED 1322420 GCM2 glial cells missing homolog 2 (Drosophila) This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008] 6 6 6 p23 12101899 12110544 - 10873456 10882098 - 10873223 10881865 - 1598942;1580863;6480464;8554872;8699517 11602629 10343099;12354132;12477932;14574404;14715818;15489334;15657585;15728199;15863676;18182452;18583467;18712808;19257819;19448621;19940031;20190276;20463099;20558332;21164298;21642377;22066718;23155703;24133354;9928992 9247 O75603 ABBA01022089;AF079550;AF091149;AI028145;AL024498;AL357497;AMYH02013101;BC069603;BC117316;BC117318;FJ655849;NG_008970;NM_004752 AAC33792;AAC98097;AAH69603;AAI17317;AAI17319;ACV69998;NP_004743;O75603 Hs.227098 1697140;1797570;2114297 G31527;GCM2_2360;RH102056 GCMB;hGCMb GCM motif protein 2;OTTHUMP00000016026;chorion-specific transcription factor GCMb;glial cells missing 2;glial cells missing homolog b;glide/gcm protein homolog APPROVED protein-coding ENSG00000124827 HGNC:4198 04758 603716 REVIEWED 735697 GCK glucokinase (hexokinase 4) Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). [provided by RefSeq, Apr 2009] 7 7 7 p15.3-p15.1 44281829 44326987 - 44183870 44229022 - 44144271 44189423 - 1580863;704404;1582633;1581880;1598592;1601292;1601295;1601296;1601294;1581877;1300048;1601293;2301873;2301885;2301887;2301883;2301876;2301889;2302851;2302784;2311061;2301863;2302790;6480464;6484113;6907045;7240710;7488970;7488945;7488967;7488968;7488971;7488969;8554872;8699517 11372010;14627435;15138155;15173029;1570017;16186382;16752173;17186458;18332101;18774732;19039094;21239437;21937665;22234649;22884880;22925001;4273555;4353083;8200206;8200207;8314445;8325445;8495817;9324112;9435328;9540816 10588527;10601273;10694920;11106831;11112984;11237213;11440371;11473043;11522786;11756407;11772903;11914755;12050210;12101177;12442280;12477932;12515438;12627330;12690205;12941786;1303265;1349989;1354840;1360036;1397713;14517946;14578306;14617577;1464666;14702039;14747279;15009676;1502186;1511800;15277402;15305805;1545870;15489334;15677479;15677518;15841481;15918042;15928245;15987895;1612194;16173921;16186409;16331569;16344560;16378108;16444761;16632067;16936201;16963153;17070428;17082186;17186219;17216282;17260972;17327436;17389332;1740341;1740342;17561510;17573900;17584736;17937063;17976205;17994217;18008060;18039179;18159847;18184897;18187620;18196929;18208578;18248649;18271687;18298419;18322640;18325809;18370929;18382660;18397317;18399931;18411240;18450771;18483479;18498634;18556336;18571549;18588509;18651836;18672310;1871135;18805788;18809676;18811724;18828733;19002431;19018513;19060907;19073768;19096518;19125755;19146401;19150152;19169489;19187021;19228875;19241058;19282865;19336674;19358091;19368707;19410318;19411616;19459610;19473033;19515026;19533084;19551638;19564454;19578796;19617908;19643913;19651812;19741163;19741166;19790256;19884385;19913121;19934346;19937311;19948975;20015564;20081858;20132997;20144192;20164212;20185807;20227404;20301549;20301620;20337973;20458967;20490451;20536962;20587714;20628086;20628598;20668700;20682687;20682688;20828143;20845477;20849852;20858683;20878480;20889853;20979768;21036910;21104275;21348868;21420961;21437567;21454584;21518409;21544516;21604084;21720051;21909109;21978167;22038520;22043488;22060211;22096510;22177951;22291974;22298776;22332836;22335469;22341299;22399527;22432108;22493702;22517333;22540858;22581228;22611063;22653590;22761713;22820548;23009393;23029263;23085272;23139355;23155715;23271955;23433541;23441155;23575436;23586928;23733961;23840762;23878349;23957911;24001579;24146201;24244560;24430320;24447338;24568320;24637025;24992032;8094163;8094164;8132752;8168652;8194664;8325892;8376578;8433729;8446612;8454109;8549853;8626423;8878425;9000692;9049484;9270716;9469993;9570959;9662401 2645 C9JQD1;H7BXV0;P35557;Q53Y25 ABBA01058215;AC006454;AF041013;AF041014;AF041022;AK122876;AMYH02015616;BC001890;BT007062;CD251038;CH236960;CH471128;DA640823;EU008605;HB877574;HC934983;M69051;M88011;M90298;M90299;NG_008847;NM_000162;NM_033507;NM_033508 AAA51824;AAA52562;AAA67541;AAA67542;AAB59563;AAB97680;AAB97681;AAB97682;AAH01890;AAP35711;ABM84761;ABS31137;BAG53774;CBF63115;CBU87991;EAL23764;EAL23765;EAL23766;EAW61114;EAW61115;EAW61116;NP_000153;NP_277042;NP_277043;P35557 Hs.1270 1742105;2108775;2117197;2123011;2124719;2154524 GCK_7794;GDB:1317412;GDB:191176;GDB:3754299;RH11460;SHGC-12738 FGQTL3;GK;GLK;HHF3;HK IV;HK4;HKIV;HXKP;LGLK;MODY2 ATP:D-hexose 6-phosphotransferase;OTTHUMP00000159306;OTTHUMP00000159307;OTTHUMP00000159308;OTTHUMP00000209239;glucokinase;hexokinase D, pancreatic isozyme;hexokinase type IV;hexokinase-4;hexokinase-D APPROVED protein-coding ENSG00000106633 HGNC:4195 00680 125851;125853;138079;602485;606176 REVIEWED 1348704 GCM1 glial cells missing homolog 1 (Drosophila) This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008] 6 6 6 p12.1 54653553 54675420 - 52991759 53013624 - 53126961 53148826 - 1580863;6480464 10542267;10858268;11071865;12397062;12477932;14574404;15081636;15135239;15385555;15489334;15640526;16004993;16166624;16528103;16594548;17646165;18160678;18703417;19204726;19219068;19321927;19416964;19692500;19890582;20484742;20855292;21406447;21791615;22109522;22206674;22275534;22778138;22975632;23300953;23438603;23580611;23610556;23651062;8962155 8521 Q9NP62 AB026493;AB041714;AB041716;AB047819;ABBA01050543;AI219562;AK309881;AL512347;AMYH02013743;AMYH02013744;BC096288;BC096289;CH471081;D88613;NM_003643 AAH96288;BAA13651;BAA77250;BAA94757;BAA94758;BAB18039;EAX04412;NP_003634;Q9NP62 Hs.28346 1793694;2113266;2113268;2150242;2152313;2218544;5022578 D1S1423;D6S2401;D6S2402;GCM1_2216;PMC26236P1;RH71335;STS-R82207 GCMA;hGCMa GCM motif protein 1;OTTHUMP00000016631;chorion-specific transcription factor GCMa APPROVED protein-coding ENSG00000137270 HGNC:4197 04757 603715 REVIEWED 736793 GCLC glutamate-cysteine ligase, catalytic subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010] 6 6 6 p12 55024301 55071990 - 53362139 53409927 - 53497341 53545129 - 1302514;1302515;1580863;1300048;5134682;5134681;6480464;6907045;7240710;8554872;8699517 10515893;12598062;16690975;19879314 10395918;10439045;10733484;11820781;11844594;11972604;12070177;12477932;12500194;12663448;1350904;14574404;14676828;14702039;15451055;15485876;15489334;16183645;16322067;16403949;16491484;16599007;16766924;17109620;17207022;17333241;17344309;17479437;17601350;17643973;17921251;17961430;18035085;18066575;18276794;18420959;18549827;18560528;18614560;18926903;18977241;19041695;19322201;19347979;19515364;19567187;19578796;19817962;20180881;20200426;20485444;20615707;20655259;20659789;20673128;20689807;20712757;20732852;20970495;21105962;21139048;21156206;21277635;21438662;21444626;21555518;21657237;21871559;21906983;21962117;21988832;22249522;22452920;22610501;22824134;22863883;2294991;22990118;23255485;23448276;23758905;23770363;24068433;24250222;24639;24816145;5058793;7726839;7789189;8104187;8825659;8995480;9675072;9841880 2729 D6R959;D6REX4;D6RGF8;D6RIT4;E1CEI4;H0Y9I7;H0YAB6;P48506;Q14TF0 AB262176;AB516284;ABBA01050528;ABBA01050529;ABBA01050530;ABBA01050531;AF118846;AK094940;AK304288;AK313480;AL033397;AL531593;AMYH02013749;AY780794;BC022487;BC039894;BC047788;BG700922;BG704750;BI550814;CH471081;L39773;M90656;NG_012071;NM_001197115;NM_001498 AAA58499;AAC41751;AAD18031;AAH22487;AAH39894;AAV31778;ACE86887;ACE87574;BAE97618;BAG36264;BAG65146;BAJ21361;EAX04425;EAX04426;NP_001184044;NP_001489;P48506 Hs.654465 1337136;1667183;1669310;1697696;1708332;1754523;1788066;1788068;1788070;1857914;2113270;2124216;2137567;2178574;2183403;5015619;5020335 D11S3114;D6S1623;D6S2060;D6S2404;D6S385;G67293;G67294;G67295;RH102364;RH36336;RH45278;RH68488;SHGC-132802;SHGC-53188;SHGC-81565;STS-M90656;STS-N29549 GCL;GCS;GLCL;GLCLC GCS heavy chain;OTTHUMP00000217803;gamma-ECS;gamma-glutamylcysteine synthetase;glutamate--cysteine ligase catalytic subunit;glutamate-cysteine ligase catalytic subunit APPROVED protein-coding ENSG00000001084 HGNC:4311 06032 230450;606857;608446 REVIEWED 731551 GCLM glutamate-cysteine ligase, modifier subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. [provided by RefSeq, Jul 2008] 1 1 1 p22.1 92606277 92628698 - 94352590 94375154 - 93887034 93909598 - 1580863;1300048;6480464;6907045;7240710;8554872 10395918;10674357;12081989;12477932;12975258;14532974;15451055;15489334;15946948;16081425;16183645;16599007;16677451;16710414;16712791;16766924;16909399;17333241;17344309;17353931;17548779;17643973;17924854;17961430;18066575;18449862;18560528;18614560;18991850;19056482;19126404;19153097;19420105;19455074;19460752;19578796;19584774;19808663;19896490;19913121;20061124;20200426;20485444;20598694;20628086;20712757;20970495;21105962;21139048;21145461;21277635;21504558;21555518;21988832;22863883;22939629;23400010;23743623;24816145;7826375;7829101;8825659;8978789;9675072;9841137;9841880;9895302 2730 M5A959;P48507;Q5YKL1 AB809606;ABBA01045517;ABBA01045518;AK290449;AL049796;AL117351;AMYH02001506;AY382196;AY773965;BC041809;BE269549;BE866085;BF031933;BF213407;BF219130;BF246042;BF541340;BF541441;BF698337;BG291243;BG547387;BI497338;BM468805;BQ049850;BQ224592;BU600458;C17598;C18245;C18878;C18959;C19097;CB114258;CB128427;CH471097;CK818048;CR541833;D63311;L35546;NG_012072;NM_002061;R69169;XM_005270754 AAA65028;AAH41809;AAR29001;AAV28733;BAF83138;BAN05309;CAG46632;EAW73059;EAW73060;EAW73061;EAW73062;NP_002052;P48507;XP_005270811 Hs.315562 1660953;1748267;1748269;2138232;2217360;5015961;5037552;5109281;5122475 D15S1477;D1S1425;D1S3247;D1S3412;D8S2279;G66719;G66720;GCLM_3987;RH69046 GLCLR GCS light chain;GSC light chain;OTTHUMP00000012299;gamma-ECS regulatory subunit;gamma-glutamylcysteine synthetase regulatory subunit;glutamate cysteine ligase, modifier subunit;glutamate--cysteine ligase modifier subunit;glutamate--cysteine ligase regulatory subunit;glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), regulatory (30.8kD);glutamate-cysteine ligase modifier subunit delta2 alternative splicing;glutamate-cysteine ligase regulatory protein APPROVED protein-coding ENSG00000023909 HGNC:4312 03106 601176;608446 REVIEWED 1350573 GCNT1P1 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 1 20 20 20 p11.23 18474700 18476351 - 18400621 18402272 - 18419977 18421628 - 8748164 170517 ABBA01054045;AL121893;AMYH02036779;L42230;NG_001039 1650991 STS-L42230 GCNT1P;bA189K21.2 APPROVED pseudo HGNC:16532 INFERRED 69130 GCKR glucokinase (hexokinase 4) regulator This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008] 2 2 2 p23 27565881 27592728 + 27719470 27746556 + 27496612 27523689 + 1598592;1580863;1626607;2315986;2315985;2315983;6480464;7242280;7242279;7242423;8554872 11473043;12739015;14627435;18556336;19241058;19861489;21411509;21980298 10588736;10601273;11522786;11756407;12477932;12591926;15815621;16344560;16401311;17082186;17186219;17828387;18008060;18179892;18193043;18193044;18439548;18454146;18596051;18678614;19056598;19060906;19060910;19060911;19068216;19073768;19148283;19247372;19503597;19526250;19533084;19643913;19651812;19656773;19760754;19847674;19890391;19913121;19936222;19937311;20081857;20081858;20139978;20160193;20161779;20162742;20162743;20167577;20185807;20352598;20383146;20490451;20570916;20571754;20574426;20625834;20628086;20628598;20657596;20661421;20668700;20679960;20682687;20686565;20691829;20693352;20705733;20800603;20802025;20864672;20879858;20884846;20889853;21036910;21054877;21071687;21072187;21102463;21114848;21236713;21300955;21318467;21386085;21454522;21511510;21569451;21643755;21674002;21789219;21829377;21886157;21909109;21943158;21988832;22001757;22015968;22038520;22105854;22139419;22182842;22286219;22359512;22395765;22399527;22508271;22517333;22553379;22558069;22581228;22716779;22747683;22829776;22916037;22956255;23022100;23118302;23263486;23307301;23362303;23383164;23416328;23505323;23586973;23621087;23726366;23733961;23840762;23894584;23903356;23957911;23989113;24023260;24068962;24097068;24146201;24178511;24385677;24386095;24477042;24568320;24804806;7508874;8589523;8626423;8662230;9000692;9570959 2646 H7C1B4;H7C4D3;Q14397 ABBA01045208;AC074117;AK291846;AK298448;AK303784;AK309599;AMYH02003479;AY320034;BC130481;BC130483;CD368544;CH471053;DA011063;NG_028024;NM_001486;XM_005264256;XM_005264257;Y09592;Y09593;Z48475;Z48476 AAI30482;AAI30484;AAP72013;AAY14850;ADR83072;BAF84535;BAG60664;BAG64742;CAA70779;CAA88367;CAB61828;EAX00568;NP_001477;Q14397;XP_005264313;XP_005264314 Hs.89771 1646393;1648467;1761319 RH12389;SHGC-145328;SHGC-35430 FGQTL5;GKRP OTTHUMP00000158533;glucokinase (hexokinase 4) regulatory protein;glucokinase regulator;glucokinase regulatory protein;hexokinase 4 APPROVED protein-coding ENSG00000084734 HGNC:4196 02909 600842;613463 REVIEWED 2881094 GCNT1P2 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 2 5 5 5 22466760 22467594 - 22580350 22581184 - 22580241 22581075 - 100421560 ABBA01066601;AC108089;AMYH02011013;NG_021841 pseudo HGNC:37972 INFERRED 1351431 GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2 This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 9 9 9 q13 49631307 49697066 + 79034752 79122332 + 76441666 76507416 + 1580863;632804;6480464;6907045 7560067 12477932;12600830;12626388;12765965;1329093;15026421;15342556;15483269;15591039;15882971;15926890;15932919;16179912;16344560;16778138;17530395;17947642;18815556;19267921;19524017;20017138;20841351;21081110;21546767;21712812;22056345;22534569;23027862;23165940;23617619;24854630;7579796;8449405;9278427;9915862 2650 Q02742;Q86T81 ABBA01033909;ABBA01033910;ABBA01033911;AI445628;AJ420416;AK313343;AL161626;AL590664;AL832647;AMYH02021022;AMYH02021023;AY196293;AY196294;AY196295;AY196296;AY196297;BC074885;BC074886;BC109101;BC109102;BP359964;CH471089;DA479942;L41390;L41415;M97347;NM_001097633;NM_001097634;NM_001097635;NM_001097636;NM_001490;XM_006717052 AAA35919;AAA96661;AAH74885;AAH74886;AAI09102;AAI09103;BAG36146;CAD89956;EAW62580;NP_001091102;NP_001091103;NP_001091104;NP_001091105;NP_001481;Q02742;XP_006717115 Hs.521568 1647548;1652946;1654529;1698262;1795904;2147022;5492687 GCNT1_1157;RH102667;RH65499;SGC35269;SHGC-5528;SHGC-57145;UniSTS:482035 C2GNT;C2GNT-L;C2GNT1;G6NT;MGC126335;MGC126336;NACGT2;NAGCT2 OTTHUMP00000021502;beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase;beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase;beta-1,6-N-acetylglucosaminyltransferase;core 2 GnT;core 2 beta-1,6-N-acetylglucosaminyltransferase I;core 2 beta1,6 N-acetylglucosaminyltransferase-I;core 2 branching enzyme;core 2-branching enzyme;core2-GlcNAc-transferase;glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) APPROVED protein-coding ENSG00000187210 HGNC:4203 02669 600391 REVIEWED 1312843 GCN1L1 GCN1 general control of amino-acid synthesis 1-like 1 (yeast) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of translation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; membrane; INTERACTS WITH arsane; arsenic atom; bisphenol A 12 12 12 q24.2 120198130 120265628 - 120565014 120632513 - 120127210 120194710 - 1580863;6480464;8554872 11101529;11790298;12168954;12477932;15161933;15174051;15489334;15635413;16541075;17314511;17353931;17643375;18029348;18457437;19454010;19615732;19738201;19946888;20360068;20534441;20562859;20936779;21081666;21139048;21319273;21890473;21906983;21963094;21987572;22053931;22108332;22118674;22268729;22505724;22586326;22623428;22863883;22939629;23000965;23125841;23251661;23455922;23464991;23667531;23752268;23862649;23956138;24337577;24457600;24639526;24654937;24816145;25027693;9039502;9234705 10985 Q92616 ABBA01020096;ABBA01020097;ABBA01020098;AC004263;AC004812;AK297271;AMYH02027363;BC021129;BC032335;BC040172;BC046177;BC064346;BC113083;BC113084;BC153881;BK006575;BQ929459;BU186578;CH471054;D86973;KF459556;KF511175;NM_006836;U77700;U88836;U88837 AAC51648;AAC83183;AAD00655;AAD00656;AAH21129;AAH32335;AAH46177;AAH64346;AAI53882;BAA13209;BAG59744;DAA33878;EAW98167;EAW98168;EAW98169;NP_006827;Q92616 Hs.298716 1648186;2124111;2159564;2167663;5022706 G41318;GCN1L1;RH25426;RH48432;WI-15308 GCN1;GCN1L;KIAA0219;PRIC295;hsGCN1 GCN1 (general control of amino-acid synthesis 1, yeast)-like 1;GCN1 (general control of amino-acid synthesis, yeast, homolog)-like;GCN1-like protein 1;OTTHUMP00000240849;peroxisome proliferator activated receptor interacting complex protein;translational activator GCN1 protein-coding ENSG00000089154 HGNC:4199 16127 605614 VALIDATED 2880987 GCNT1P3 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 3 3 3 3 188772889 188773456 + 190342388 190342955 + 190624599 190625166 + 100421581 ABBA01058326;AC008249;AMYH02008409;NG_022287;NG_029105 pseudo HGNC:37973 INFERRED 2880986 GCNT1P5 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 5 7 7 7 71791121 71792104 + 77090473 77091456 + 77461156 77462139 + 100421598 ABBA01058006;AC004921;AMYH02016098;NG_022567 pseudo HGNC:37975 INFERRED 3051019 GCNT1P4 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 4 6 6 6 62727774 62728226 + 64567211 64567663 + 63857318 63857770 + 100462829 ABBA01023953;AL354913;AMYH02013818;NG_022356 pseudo HGNC:37974 INFERRED 1344597 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type This gene encodes a member of the N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins.[provided by RefSeq, Apr 2009] 15 15 15 q21.3 36791942 36800170 + 59903982 59912210 + 59611783 59620011 + 1580863;6480464;6907045 12477932;12600830;15342556;16418723;17207965;17303715;19199708;20816165;21988832;22082156;22988244;23396488;9915862;9988682 9245 H0YM40;H0YMW7;H0YNA3;O95395 ABBA01038958;AC092754;AC092755;AF038650;AF102542;AK312852;AMYH02030549;AX045249;AX087948;BC017032;BP243086;CH471082;EF152283;NM_004751 AAD10824;AAD21525;AAH17032;ABM21534;ADQ32751;BAG35705;CAC17334;CAC34676;EAW77571;EAW77572;NP_004742;O95395 Hs.194710 1716925;2107145 GCNT3_7938;RH121837 C2/4GnT;C24GNT;C2GNT2;C2GNTM;GNTM C2GnT-mucin type;OTTHUMP00000163601;beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3;beta1,6-N-acetylglucosaminyltransferase-M;beta1,6GlcNAc-transferase;core 2/core 4 beta-1,6-N-acetylglucosaminyltransferase;hC2GnT-M;mucus-type core 2 beta-1,6-N-acetylglucosaminyltransferase APPROVED protein-coding ENSG00000140297 HGNC:4205 06018 606836 REVIEWED 1342918 GCNT6 glucosaminyl (N-acetyl) transferase 6 ENCODES a protein that exhibits acetylglucosaminyltransferase activity (inferred); INVOLVED IN protein glycosylation (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH (S)-nicotine (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 6 6 p24.2 11862492 11875989 + 10633993 10647501 + 6480464 644378 Q5T4J0 XM_001718537;XM_927529 Q5T4J0;XP_001718589;XP_932622 1676998;2145272;2186105 D6S2094;RH76163;STS-Z19550 bA421M1.3 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 6 protein-coding HGNC:21623 1607088 GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 6 6 6 p24.2 11750073 11858098 + 10521542 10629601 + 10521283 10629368 + 6480464;6907045;8699517;8554872;8693611;7240710 15161861 11739194;12244172;12424189;12468428;12477932;14672974;14702039;15489334;15882971;16344560;17855628;21541272;21750175;21761136;24244333;2791656;438154;7579796;8449405;9134435;9405606;9417921;9915862 2651 B7ZBL3;Q06430;Q8N0V5;Q8NFS9 AB078432;AB078433;ABBA01022079;ABBA01022080;ABBA01022081;AF401652;AF401653;AF458024;AF458025;AF458026;AF458027;AF458028;AF458029;AF458030;AK090483;AK098105;AK291195;AK291767;AK307337;AK307373;AK310216;AK313426;AK313903;AL139039;AL358777;AL832714;AL832719;AMYH02013096;AMYH02013097;AMYH02013098;AY435145;AY435146;AY435147;BC074801;BC074802;BC130524;BX503586;BX647576;BX647668;CH471087;DB208581;L19659;L41605;L41607;NG_007469;NM_001491;NM_145649;NM_145655;XM_005248997;XM_005248999;XM_006715052;XM_006715053;XM_006715054;XM_006715055;Z19550 AAA81777;AAA99832;AAH74801;AAH74802;AAI30525;AAL50561;AAL50562;AAM73864;AAM73865;AAM73866;AAM73867;AAM73869;AAM73870;AAM74524;AAR95646;AAR95647;AAR95648;ADR82994;BAC03464;BAC05234;BAC66781;BAC66782;BAF83884;BAF84456;BAG36218;BAG36626;CAA79610;CAI46081;EAW55259;EAW55260;EAW55261;EAW55262;NP_001482;NP_663624;NP_663630;Q06430;Q8N0V5;Q8NFS9;XP_005249054;XP_005249056;XP_006715115;XP_006715116;XP_006715117;XP_006715118 Hs.519884 2145272;2153409;2186105 D6S1995;D6S2094;STS-Z19550 CCAT;CTRCT13;GCNT2C;GCNT5;IGNT;II;MGC163396;NACGT1;NAGCT1;ULG3;bA360O19.2;bA421M1.1 I beta-1,6-N-acetylglucosaminyltransferase;I-branching beta-1,6-acetylglucosaminyltransferase;I-branching enzyme;Ii blood group;N-acetylglucosaminyltransferase;N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase;N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase;OTTHUMP00000016015;OTTHUMP00000016018;OTTHUMP00000016021;beta-1,6-N-acetylglucosaminyltransferase 2 APPROVED protein-coding ENSG00000111846 HGNC:4204 02695 110800;600429 REVIEWED 1602489 GCNT4 glucosaminyl (N-acetyl) transferase 4, core 2 ENCODES a protein that exhibits beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (inferred); N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); cellular protein metabolic process (inferred); homeostasis of number of cells (inferred); PARTICIPATES IN O-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH 4-nonylphenol; atrazine; trichostatin A 5 5 5 q12 70217451 70220886 - 74323246 74350743 - 75027464 75030899 - 6907045;6480464;8554872 10753916;23362303 51301 Q9P109 ABBA01061941;AC093259;AF132035;AMYH02011581;AX087935;AX405994;CH471084;NM_016591 AAF63156;AAI60070;CAC34674;CAD35101;EAW95751;NP_057675;Q9P109 Hs.272404 C2GNT3 OTTHUMP00000161946;beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4;core 2 beta-1,6-N-acetylglucosaminyltransferase 3;core 2-branching enzyme 3;core2-GlcNAc-transferase 3;glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase) APPROVED protein-coding HGNC:17973 16651 VALIDATED 1354424 GCNT7 glucosaminyl (N-acetyl) transferase family member 7 ENCODES a protein that exhibits acetylglucosaminyltransferase activity (inferred); INVOLVED IN protein glycosylation (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH (+)-catechin; dibutyl phthalate (ortholog); silicon dioxide (ortholog) 20 20 20 q13.2 51806975 51841413 - 55066548 55100981 - 56491492 56525925 - 6480464 140687 F2Z6J8;Q6ZNI0 AB085693;ABBA01052895;AK131203;AL109806;AMYH02037339;NM_080615 BAD18395;BAK20458;NP_542182;Q6ZNI0 Hs.655916 2128917;2158753;2168444;5093764 A009W14;D20S743;G32909;RH17873 C20orf105;dJ1153D9.2;gcnt OTTHUMP00000031350;beta 1,6-N-acetylglucosaminyltransferase;beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7;chromosome 20 open reading frame 105 protein-coding HGNC:16099 VALIDATED 1347865 GCOM2 GRINL1B complex locus 2, pseudogene FOUND IN DNA-directed RNA polymerase II, holoenzyme (inferred); INTERACTS WITH dibutyl phthalate (ortholog) 4 4 4 q12 66366445 66370549 + 68904134 68908238 + 68038416 68042511 + 1580863;6480464 12063407;15815621;18987736;20811636 339970 Q9BZD3 ABBA01022908;AC096727;AF326970;AMYH02009381;NG_009901 AAG50023;Q9BZD3 1675343;1677336;1681364;1687209;1687568;1858140;2146353 D4S3096;RH28685;RH39519;RH39550;RH76145;SHGC-67777;WI-20619 GLURR2;GRINL1B APPROVED pseudo HGNC:15712 608311 INFERRED 6769552 GCSHP2 glycine cleavage system protein H (aminomethyl carrier) pseudogene 2 14 14 14 q32.32 83704774 83705523 + 103650659 103651408 + 103184322 103185071 + 100288298 ABBA01048434;AL161669;AMYH02029918;NG_016382 pseudo HGNC:43927 INFERRED 6900315 GCSAML-AS1 GCSAML antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q44 220986751 220992871 - 247687981 247694106 - 247524679 247530804 - 8554872 12477932;16344560;19684603 148824 ABBA01031788;AL606804;AMYH02003134;BC034303;DB139678;HG493420;NR_027309 Hs.23491 1670547 D1S3593 RP11-978I15.9 ncrna HGNC:41244 VALIDATED 1343482 GCSAM germinal center-associated, signaling and motility This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 3 q13.2 110238762 110251221 - 111839688 111852453 - 112120841 112133606 - 6480464 12477932;12509382;12819018;14702039;15342556;15489334;15591113;15677569;16344560;17207965;17823310;18029348;18264083;19883310;20697248;20844236;21447067;21475040;21502424;21722313;21988858;22743653;22914613;23299888;25015289 257144 C9IY73;C9JY41;F2Z3F7;Q8N6F7 AA237025;ABBA01061666;ABBA01061667;AC128688;AF521911;AK313368;AMYH02007437;AW576133;AY212246;BC030506;BM456595;BP224611;BX280641;CH471052;DA455714;NM_001190259;NM_001190260;NM_152785;XM_005247271;XM_005247272 AAH30506;AAO21701;AAO22147;ADQ31706;BAG36167;EAW79680;NP_001177188;NP_001177189;NP_689998;Q8N6F7;XP_005247328;XP_005247329 Hs.49614 1671795;1685620;1750327 RH99175;SHGC-112515;SHGC-58367 GCAT2;GCET2;HGAL;MGC40441 OTTHUMP00000214427;OTTHUMP00000214474;OTTHUMP00000214477;OTTHUMP00000214479;OTTHUMP00000214480;germinal center B-cell-expressed transcript 2 protein;germinal center expressed transcript 2;germinal center-associated lymphoma protein;germinal center-associated signaling and motility protein;human germinal center-associated lymphoma APPROVED protein-coding ENSG00000174500 HGNC:20253 09695 607792 REVIEWED 6770725 GCSHP3 glycine cleavage system protein H (aminomethyl carrier) pseudogene 3 2 2 2 200737711 200738710 - 206980297 206981296 - 206115573 206116572 - 8889548 100329109 ABBA01062649;AC007383;AMYH02005626;AV703937;BM685716;NR_033248 Hs.356055 1658105 SGC30424 pseudo HGNC:43929 PROVISIONAL 6769561 GCSHP4 glycine cleavage system protein H (aminomethyl carrier) pseudogene 4 12 12 12 p13.31 9870157 9872248 - 8293096 8295187 - 8140500 8142591 - 100287495 ABBA01012237;AC092111;AMYH02025988;NG_016379 pseudo HGNC:43930 INFERRED 6770724 GCSHP5 glycine cleavage system protein H pseudogene 5 1 1 1 141134261 141134719 - 168024597 168025731 - 168055359 168056493 - 16341674 100329108 AL033531;AMYH02002097;NG_029194 1737311 D16S2649 pseudo HGNC:44195 INFERRED 1353826 GCSL glycine cleavage system protein L 1993704 2654 HGNC:4209 1602016 GCUD2 gastric cancer up-regulated-2 q32.1 12477932 653573 AB096683;AL109844;BC146978;BC146992;NM_207418 AAI46979;AAI46993;BAD20788;NP_997301;Q6L9T8 Hs.535577;Hs.715930 MGC57827 protein-coding 14694 1345105 GCTG gamma-glutamylcyclotransferase 2655 HGNC:4210 1343914 GCY growth control, Y chromosome influenced 2656 HGNC:4211 475000 1605713 GCC2 GRIP and coiled-coil domain containing 2 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 2 2 2 q12.3 103373681 103433949 + 109065577 109125854 + 108449121 108509398 + 6480464 10508479;11149944;12200376;12446665;12477932;12972563;14702039;15489334;15522892;15654769;15815621;16344560;16885419;16964243;17488291;17543864;18029348;18243103;18946081;19013454;19615732;19703403;19946888;21139048;21875948;21890473;22159419;22939629;23000965;8889548;9205841 9648 B3KR21;B8ZZA5;B8ZZW2;H7BYJ9;H7C010;Q8IWJ2;U3KPU4;U3KQE0 AA171957;AB002334;ABBA01000754;ABBA01000755;ABBA01000756;AC012487;AC068941;AF273042;AF432211;AI084646;AK090813;AK308707;AMYH02004508;BC020645;BC037774;BC146789;BM694019;CH471182;DA865539;NM_181453;NR_028063;XM_006712870;XM_006712871;XM_006712872;XR_427125 AAG34902;AAH20645;AAH37774;AAI46790;AAL99918;AAX88838;BAA20794;BAG52233;EAW53882;EAW53883;EAW53884;NP_852118;Q8IWJ2;XP_006712933;XP_006712934;XP_006712935 Hs.436505;Hs.469630 1771700;1774909;5091929;5109585;5124960 D2S1552E;D2S2897;RH11823;RH35930;RH69881 GCC185;KIAA0336;RANBP2L4;REN53 185 kDa Golgi coiled-coil protein;CLL-associated antigen KW-11;CTCL tumor antigen se1-1;GCC protein, 185-kD;GRIP and coiled-coil domain-containing protein 2;Golgi coiled-coil protein GCC185;OTTHUMP00000217161;Ran-binding protein 2-like 4;renal carcinoma antigen NY-REN-53 APPROVED protein-coding ENSG00000135968 HGNC:23218 11001 612711 REVIEWED 1348453 GCSH glycine cleavage system protein H (aminomethyl carrier) Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010] 16 16 16 q23.2 65413951 65428027 - 81115552 81129980 - 81081947 81096375 - 1580863;6480464;7240710;7242560;8554872;8699517 20645850 11450847;11752456;12402263;12477932;15146197;15489334;16169070;16189514;16450403;1671321;19299230;19844255;2025283;20301531;21539457;3348809;6111451;6790577 2653 H3BNV1;H3BPF0;H3BQ30;H3BUG8;H3BUH9;P23434 ABBA01016985;AC092718;AI656660;AK311978;AMYH02032504;AV696698;AY310735;AY533031;BC000790;BC009065;BC020922;BF798008;BG708388;BT009827;CH471114;CN283805;CN283809;CR457072;D00723;M69175;NG_016427;NM_004483;NR_033249 AAA36011;AAH00790;AAH20922;AAP50260;AAP88829;AAS59848;BAA00625;BAG34917;CAG33353;EAW95545;EAW95546;NP_004474;P23434 Hs.546256 1689083;1737311 D16S2649;RH65079 GCE;NKH OTTHUMP00000174971;glycine cleavage system H protein, mitochondrial;lipoic acid-containing protein;mitochondrial glycine cleavage system H-protein APPROVED protein-coding ENSG00000140905 HGNC:4208 01998 238330;605899 REVIEWED 1314445 GDAP2 ganglioside induced differentiation associated protein 2 INVOLVED IN response to retinoic acid (inferred); FOUND IN lysosomal membrane; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper atom; copper(0) 1 1 1 p12 116633773 116699967 - 118406107 118472302 - 117863485 117929679 - 6480464 10217254;12477932;16344560;17897319;20379614;21139048;21890473;21906983;21963094;22053931;22505724;23000965 54834 Q9NXN4 AA281062;AA825512;ABBA01068504;AI125031;AK000149;AL121993;AL122007;AMYH02001801;BC013132;BC013324;BJ992034;BX100817;BX459360;CH471122;DA608938;DB043931;KF510194;NM_001135589;NM_017686;XM_005270959 AAH13132;BAA90976;EAW56682;EAW56683;NP_001129061;NP_060156;Q9NXN4;XP_005271016 Hs.310809;Hs.594430;Hs.667170 1686941;1692140;1771100;1773762;2123057;2135258;2154310;5024545 AFMb281za9;AL033703;D1S3695;RH45069;SHGC-33620;SHGC-75363;SHGC-75387;SHGC-75390 FLJ20142;MACROD3;dJ776P7.1 OTTHUMP00000014054;OTTHUMP00000014055;ganglioside-induced differentiation-associated protein 2 protein-coding ENSG00000196505 HGNC:18010 06576 VALIDATED 734410 GDE1 glycerophosphodiester phosphodiesterase 1 ENCODES a protein that exhibits glycerophosphodiester phosphodiesterase activity (inferred); glycerophosphoinositol glycerophosphodiesterase activity (inferred); metal ion binding (inferred); INVOLVED IN glycerol metabolic process (inferred); lipid metabolic process (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 16 16 16 p12-p11.2 18662036 18682461 - 19513015 19533450 - 19501693 19522128 - 6480464 10493829;10760272;12477932;12576545;15489334;16472945;16806233;18227059;20031211;20668064;21081469;21464471;21988832;22463747;23405235;24336073 51573 H3BNA5;H3BRL5;H3BU22;Q9NZC3 ABBA01028263;AC003108;AC012621;AC130456;AF212862;AF306697;AF306698;AK312912;AMYH02031649;AY463154;BC001538;BC012153;BC014981;BC025273;BQ897064;CH471186;CS185583;NM_016641;U91321;XM_005255355 AAC05440;AAC05803;AAF65234;AAH14981;AAH25273;AAR25624;BAG35758;CAJ42764;EAW50283;EAW50284;EAW50285;EAW50286;NP_057725;Q9NZC3;XP_005255412 Hs.512607 1657238;1689231;2156180;2175629 RH78973;RH93458;SHGC-60880;SHGC-61116 363E6.2;MIR16 OTTHUMP00000162156;RGS16-interacting membrane protein;membrane interacting protein of RGS16;membrane-interacting protein of RGS16 protein-coding ENSG00000006007 HGNC:29644 12070 605943 VALIDATED 1606709 GCOM1 GRINL1A complex locus 1 This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternative splicing results in multiple readthrough transcript variants. Readthrough variants may encode proteins that share sequence identity with the upstream gene product or with both the upstream and downstream gene products. Some readthrough transcript variants are also expected to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Oct 2013] 15 15 15 q21.3 34774420 34899440 + 57884102 58009755 + 57591904 57717557 + 6480464;8554872 11474202;12477932;14702039;15146197;15233991;15489334;16112646;18849881;20093627;21347282 145781 H0YCD3;H3BTD5;H8Y6P7;P0CAP1 ABBA01038988;ABBA01038989;ABBA01038990;ABBA01038991;AC025271;AC090651;AMYH02030521;AMYH02030522;AY207007;AY208913;AY331564;AY333779;AY334560;AY334561;AY334562;AY341345;AY350748;AY353056;AY353057;AY353058;AY353060;AY620236;BC050322;BU753055;BX095570;BX641062;CH471082;CN284687;JF419331;KF456061;NM_001018090;NM_001018091;NM_001285900;NR_104367;NR_104368;NR_104369;NR_104370;NR_104371 AAO39707;AAP41549;AAQ76825;AAQ76826;AAQ76827;AAQ76828;AAQ76829;AAQ76831;AAQ76832;AAQ76833;AAQ76834;AAQ76836;AAQ82541;AEB96260;EAW77522;EAW77523;NP_001018100;NP_001018101;NP_001272829 Hs.437256;Hs.711270 1339913;1340757;1675343;1677336;1681364;1687209;1687568;1708020;1739225;1759601;1768898;1858140;2143745;2146353 D15S1022;D15S870;D15S998;D4S3096;RH28685;RH39519;RH39550;RH76145;SHGC-150909;SHGC-56823;SHGC-67777;SHGC-81358;WI-13387;WI-20619 FLJ30973;GRINL1A;Gcom2;Gup;Gup1;Gup2;MGC126694;MGC138353;MYZAP-POLR2M;gcom GRINL1A combined protein;GRINL1A combined protein Gcom12;GRINL1A complex locus protein 1;GRINL1A upstream protein;MYOZAP;MYZAP;MYZAP-POLR2M readthrough;NMDAR1 subunit-interacting protein;OTTHUMP00000163286;OTTHUMP00000163287;OTTHUMP00000163343;OTTHUMP00000163344;OTTHUMP00000233013;OTTHUMP00000233014;OTTHUMP00000233015;OTTHUMP00000233016;OTTHUMP00000233017;OTTHUMP00000233018;OTTHUMP00000233019;OTTHUMP00000233020;OTTHUMP00000233021;glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A combined protein;myocardial zonula adherens protein;myocardium-enriched Zo-associated protein;myocardium-enriched zonula occludens-1-interacting protein APPROVED protein-coding HGNC:26424 08091 614071 VALIDATED 1605281 GCSAML germinal center-associated, signaling and motility-like This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 1 1 1 q44 221011245 221038655 + 247670417 247740990 + 247507058 247577690 + 6480464;8554872 12477932;16344560;17207965;19684603;22139419 148823 E9PLW0;E9PR51;E9PRX8;Q5JQS6;Q6ZVI8 ABBA01031788;AK123798;AK124520;AK126682;AK307081;AK307082;AK311994;AL606804;AMYH02003134;AX505122;BC024174;BU155429;BU852381;CH471148;DA118297;DB095029;DC310064;NM_001281834;NM_001281835;NM_001281836;NM_001281837;NM_001281838;NM_001281853;NM_145278 AAH24174;ADQ32207;BAC85873;BAG34932;BAG54358;CAD48808;EAW77193;NP_001268763;NP_001268764;NP_001268765;NP_001268766;NP_001268767;NP_001268782;NP_660321;Q5JQS6 Hs.732113 2113652 AB060908 C1orf150;FLJ41804;FLJ44728;RP11-978I15.8 OTTHUMP00000038412;OTTHUMP00000038413;OTTHUMP00000038414;OTTHUMP00000231807;germinal center-associated signaling and motility-like protein;putative uncharacterized protein C1orf150 APPROVED protein-coding ENSG00000169224 HGNC:29583 14082 REVIEWED 1312261 GDF1 growth differentiation factor 1 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. This protein is transcribed from a bicistronic mRNA that also encodes the longevity assurance gene. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Mar 2014] 19 19 19 p12 18884162 18911776 - 18979361 19006953 - 18868552 18896144 - 1580863;6480464;7240710;8554872;8699517 10844590;12477932;15057824;1704486;17924340;19359031;19553149;2034669;20413652;20634891;20734064;20807224;23076529;24275554;24798330;8401586;9872981 2657 P27539;Q59GE0 AB209169;ABBA01051294;ABBA01051295;AC003972;AC005197;AMYH02035743;AMYH02035744;CH471106;M62302;NG_012070;NG_033056;NM_001492 AAA58501;AAB94786;AAC24611;BAD92406;EAW84743;EAW84744;NP_001483;P27539 Hs.412355 1656803;1739657;2176109 A006H36;D19S842E;WI-14123 DORV;DTGA3;GDF-1;RAI embryonic growth/differentiation factor 1 APPROVED protein-coding ENSG00000130283 HGNC:4214 04194 187500;208530;217095;602880;613854 REVIEWED 1344001 GDF15 growth differentiation factor 15 Bone morphogenetic proteins (e.g., BMP9; MIM 605120) are members of the transforming growth factor-beta (see TGFB1; MIM 190180) superfamily and regulate tissue differentiation and maintenance. They are synthesized as precursor molecules that are processed at a dibasic cleavage site to release C-terminal domains containing a characteristic motif of 7 conserved cysteines in the mature protein.[supplied by OMIM, Oct 2009] 19 19 19 p13.11 18398797 18401815 + 18496968 18499986 + 18386158 18389176 + 1580863;6480464 10524241;10777512;10811612;11102463;11134143;11141057;11259636;11278594;11445565;11895857;11994274;12011055;12082608;12090982;12139236;12477932;12514175;12624183;12855642;12894347;12900512;12941831;14575402;14662774;14726168;15073115;15316060;15342369;15670751;15677629;15757899;15900300;16154591;16286461;16388506;16397141;16484622;16699947;16741990;16775185;17050687;17192395;17328047;17548705;17637746;17721544;17908975;17909264;17982462;18029348;18264720;18359786;18398830;18550273;18624398;18657084;18676680;18754039;18801729;18824595;19047680;19060904;19074584;19100681;19125423;19133249;19152406;19168526;19170196;19302795;19341722;19357976;19375854;19401523;19470878;19505289;19505919;19515791;19521960;19625176;19692168;19695766;19913121;19946339;20024638;20031597;20067113;20104227;20130018;20160200;20167682;20193126;20215826;20237496;20357380;20385121;20431030;20534737;20576287;20628086;20800603;20854422;20855664;20860541;20884666;20937742;20966402;20975101;21097678;21245963;21312063;21336029;21437897;21475976;21487066;21503121;21504622;21535154;21548946;21586550;21616994;21645023;21773947;21803025;21809352;21865063;21881845;21906983;22023041;22064648;22144502;22160844;22180562;22231869;22301101;22341306;22365732;22384099;22484283;22505696;22511768;22723347;22815297;22872134;22975449;23071585;23146921;23154866;23262134;23280549;23328263;23335088;23468844;23503457;23758647;23799024;23836903;23850849;23996089;24069146;24136234;24216602;24236027;24312445;24345755;24383865;24462860;24504814;24521768;24554716;24565956;24592997;24597762;25016703;8125298;9326641;9348093;9375789;9426002;9593718 9518 Q99988 AB000584;ABBA01051260;ABBA01158935;AC008397;AF003934;AF008303;AF019770;AF173860;AK225431;AK291530;AMYH02035732;BC000529;BC008962;BT019465;CH471106;NM_004864;U51731;U88323 AAB88673;AAB88913;AAC24456;AAC39537;AAF89834;AAH00529;AAH08962;AAV38272;BAA19151;BAF84219;EAW84694;NP_004855;Q99988 Hs.616962 1793724;1858435 PMC26624P1;RH68131 GDF-15;MIC-1;MIC1;NAG-1;NRG-1;PDF;PLAB;PTGFB NSAID (nonsteroidal anti-inflammatory drug)-activated protein 1;NSAID-activated gene 1 protein;NSAID-regulated gene 1 protein;PTGF-beta;growth/differentiation factor 15;macrophage inhibitory cytokine 1;placental TGF-beta;placental bone morphogenetic protein;prostate differentiation factor APPROVED protein-coding ENSG00000130513 HGNC:30142 05608 605312 VALIDATED 734048 GDA guanine deaminase This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 9 9 9 q21.13 45336999 45439843 + 74729511 74867140 + 72114595 72254822 + 1580863;1300048;6480464;6907045;8554872 10075721;10542258;10574462;10595517;12477932;14702039;14730308;15123239;15489334;16027165;16344560;16953061;16953063;17207965;18781797;20379614;20471030;20877300;21906983;21963094;22863883;2649557;3966794;7566098 9615 H0YDZ7;Q5SZC3;Q5SZC5;Q5SZC6;Q9Y2T3 AA985376;AB033084;ABBA01033851;ABBA01033852;ABBA01033853;AF019638;AF095286;AJ420441;AK023729;AK097540;AK295716;AK300418;AK315988;AL135924;AL583829;AL590311;AMYH02020975;AMYH02020976;BC012859;BC033310;BC053584;CH471089;DA212666;NG_030562;NM_001242505;NM_001242506;NM_001242507;NM_004293;R45063;XM_005252317;XM_006717326 AAD25978;AAF13301;AAH53584;ADQ32583;BAA86572;BAG53485;BAG58560;BAG62147;BAH14359;EAW62528;EAW62529;EAW62530;NP_001229434;NP_001229435;NP_001229436;NP_004284;Q9Y2T3;XP_005252374;XP_006717389 Hs.494163 1661913;1735940;1740011;1744359;1851877;2132807;2150524;2174859;5015404;5020948 1668;A002U11;D9S1069E;D9S1761;G35510;GDB:451815;L17705;RH12787;RH18389;WIAF-1619 GAH;KIAA1258;MGC9982 CYPIN;GUANASE;NEDASIN;OTTHUMP00000021463;OTTHUMP00000021464;OTTHUMP00000021467;cytoplasmic PSD95 interactor;guanine aminase;guanine aminohydrolase;p51-nedasin APPROVED protein-coding ENSG00000119125 HGNC:4212 08849 139260 REVIEWED 1342570 GDF10 growth differentiation factor 10 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in mice suggest that the protein encoded by this gene plays a role in skeletal morphogenesis. [provided by RefSeq, Jul 2008] 10 10 10 q11.22 44850007 44863384 - 48425785 48439138 - 47300224 47313583 + 1580863;6480464 10844590;12477932;15174051;16344560;16385451;18077449;18949431;20237496;20734064;8670277;8679252 2662 P55107;Q8N6T2 AA018253;ABBA01000027;AK310360;AK315322;AL731561;AMYH02022899;BC028237;CH471251;D49492;D49493;DA165700;L42113;NM_004962;XM_006717762 AAH28237;AAL77527;BAA08452;BAA08453;EAW50661;NP_004953;P55107;XP_006717825 Hs.2171 1678161;1685055;1694488;1797572 GDF10_2025;RH121909;RH78115;RH80966 BIP;BMP-3b;BMP3B;GDF-10 OTTHUMP00000019534;bone morphogenetic protein 3B;bone-inducing protein APPROVED protein-coding ENSG00000266524 HGNC:4215 03218 601361 REVIEWED 1347948 GDF4 growth differentiation factor 4 23709 HGNC:4219 1353215 GDF2 growth differentiation factor 2 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest that this protein plays a role in the adult liver and in differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jan 2014] 10 10 10 q11.22 44836998 44840759 - 48413092 48416853 - 47322490 47327317 + 1580863;6480464;8699517;7240710;8554872 10849432;10894782;11748585;12477932;15489334;15851468;16385451;17068149;17311849;17549388;18309101;18922975;18986983;19056867;19086053;19366699;19996292;20237496;20301525;20346360;20398908;20406889;20734064;21695154;21710321;21737454;22299030;22474252;22493445;22556408;22718755;22829878;22948234;23018639;23313128;23807047;23844832;23936038;23972370;24019898;24072698;24337584 2658 B2RC63;Q9UK05 ABBA01000027;AF156891;AF188285;AK314956;AL731561;AMYH02022898;BC069643;BC074921;CH471251;NG_033916;NM_016204;XM_006717761 AAD40309;AAD56960;AAH69643;AAH74921;ABZ92149;ABZ92481;BAG37460;EAW50660;NP_057288;Q9UK05;XP_006717824 Hs.279463 1797576 GDF2_330.2 BMP-9;BMP9;GDF-2;HHT5 OTTHUMP00000019538;bone morphogenetic protein 9;growth/differentiation factor 2 APPROVED protein-coding ENSG00000263761 HGNC:4217 05492 605120;615506 REVIEWED 1347722 GDF6 growth differentiation factor 6 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq, Jul 2008] 8 8 8 q22.1 93340541 93359001 - 97154558 97173020 - 96142330 96160792 - 6480464;6907045;7240710;8554872;8699517 10022976;10448738;12027540;12477932;12606286;15246821;15489334;16049014;17236135;18425797;18716610;19129173;19240811;19492402;20057906;20334610;20494911;20734064;21702718;22049084;23307924;7961761;8145850;9057810;9218508;933127;9525338 392255 A0PK23;Q6KF10 ABBA01037490;AJ537424;AMYH02018453;AP003465;BC043222;BC127947;BC127948;CH471060;NG_008981;NM_001001557 AAH43222;AAI27948;AAI27949;AAI56446;CAD60934;EAW91747;NP_001001557;Q6KF10 Hs.492277 1714237 RH119897 BMP-13;BMP13;CDMP2;GDF-6;KFM;KFS;KFS1;KFSL;LCA17;MCOP4;MCOPCB6;MGC158100;MGC158101;SCDO4;SGM1 Klip-Feil malformation;Klippel-Feil malformation;Klippel-Feil syndrome;OTTHUMP00000227272;bone morphogenetic protein 13;growth/differentiation factor 16;growth/differentiation factor 6 APPROVED protein-coding ENSG00000156466 HGNC:4221 11002 118100;601147;613094;613703;615360 REVIEWED 736579 GDF9 growth differentiation factor 9 This gene encodes a member of the transforming growth factor-beta superfamily. The encoded preproprotein is processed into a secreted factor that is required for ovarian folliculogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 5 5 5 q31.1 128326902 128330501 - 132196877 132202238 - 132861181 132866884 - 1580863;6480464;8554872 10067849;10443672;10712517;11056243;11376106;11604237;11788667;11889206;12050262;12135884;12446716;12477932;12574210;14970198;15372022;15383276;15489334;15607004;16169070;16278619;16344560;16603567;16645022;16954162;17027369;17156781;17453295;17482612;18006624;18063682;18162287;18633140;18854109;19111296;19366876;19376510;19423755;19438907;19505950;19846738;19931079;20067794;20236105;20237496;20427239;20451184;20458753;20547206;20660033;20705511;20734064;21042764;21116689;21226076;21496799;21632818;21669410;21829661;21900206;21970812;22159313;22234469;22825968;23011157;23060562;23382188;23523567;23567549;23650403;23851219;24438375;7760846;8429021;8849725;9564873 2661 B4DXG3;O60383 AA604716;ABBA01068795;AC004500;AK301962;AK315973;AMYH02012220;BC096228;BC096229;BC096230;BC096231;BX117145;CA488820;CH471062;DB040027;DB320693;HY015857;HY042819;HY045713;HY211060;NM_001288824;NM_001288825;NM_001288826;NM_001288827;NM_001288828;NM_005260;XM_005271957;XM_006714585 AAC08450;AAH96228;AAH96229;AAH96230;AAH96231;BAG63375;BAH14344;EAW62309;NP_001275753;NP_001275754;NP_001275755;NP_001275756;NP_001275757;NP_005251;O60383;XP_005272014;XP_006714648 Hs.25022;Hs.739230;Hs.742490 1804486;1804936;1805996;1809956;1810678;1840146;2002152;2002154;2002156;2002158;2002160;2002162;2002164;2002166;2002168;2002170;2002172;2002174;2002176;2002178;2002180;2002182;2002184;2002186;2002188;2002190;2002192;2002194;2002196;2002198;2002200;2002202;2002204;2096568;2096570;2096572;2096574;2113550;2145146 ECD03168;ECD03404;ECD03951;ECD05970;ECD06333;ECD21257;GDF9_V237;REN71988;REN71989;REN71990;REN71991;REN71992;REN71993;REN71994;REN71995;REN71996;REN71997;REN71998;REN71999;REN72000;REN72001;REN72002;REN72003;REN72004;REN72005;REN72006;REN72007;REN72008;REN72009;REN72010;REN72011;REN72012;REN72013;REN72014;WI-21813;stSG601579;stSG601580;stSG601581;stSG601582 GDF-9 OTTHUMP00000066213;growth/differentiation factor 9 APPROVED protein-coding ENSG00000164404 HGNC:4224 03560 601918 REVIEWED 731907 GDF11 growth differentiation factor 11 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in mice and Xenopus suggest that this protein is involved in mesodermal formation and neurogenesis during embryonic development. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55789534 55799135 + 56137064 56146665 + 55743280 55757466 + 1580863;704404;6480464 10075854;10391213;10508689;15988002;16845371;17912435;17997109;18519639;18535106;18596030;19751112;20734064;24244313;24658077;8889549 10220 H0YI30;O95390 AA053348;ABBA01008386;ABBA01008387;AC073487;AF028333;AF028334;AF100907;AMYH02026550;AX460501;CH471054;KC561773;NM_005811;XM_006719193;XM_006719194 AAC72852;AAF21630;AAF21631;AAI48592;CAD38427;EAW96830;EAW96831;NP_005802;O95390;XP_006719256;XP_006719257 Hs.600883 1668425;1681795;1797574;1855631;2110527;2134225;2135011;2168820;5493860 A008V16;GDF11_2359;Gdf11;MARC_41381-41054:1084804684:3;RH47413;RH78293;RH99137;SGC34566;WI-16726 BMP-11;BMP11;GDF-11 OTTHUMP00000243162;OTTHUMP00000243217;bone morphogenetic protein 11;growth/differentiation factor 11 APPROVED protein-coding ENSG00000135414 HGNC:4216 04895 603936 REVIEWED 1322500 GDF7 growth differentiation factor 7 This gene encodes a member of the bone morphogenetic protein (BMP) family. BMPs belong to the transforming growth factor-beta superfamily of secreted signalling molecules that regulate diverse processes in growth, repair and embryonic development. In mouse, this gene functions as an inductive signal from the roof plate required for the specification of neuronal identity in the dorsal spinal cord. [provided by RefSeq, Jul 2008] 2 2 2 p24.1 20728800 20733639 + 20866424 20871250 + 20666664 20671490 + 6480464;6907045 10022976;12741987;16049014;20102312;20237496;20334610;20339536;20677014;20734064;21702718;24155967;9808626 151449 Q75RY1;Q7Z4P5 AB158468;ABBA01018473;AC012065;AF522369;AMYH02003373;AMYH02003374;CH471053;NM_182828 AAI60118;AAP97720;BAD07014;EAX00811;NP_878248;Q7Z4P5 Hs.447688 BMP12;GDF-7 OTTHUMP00000115986;growth/differentiation factor 7 APPROVED protein-coding HGNC:4222 06873 604651 REVIEWED 1319106 GDAP1 ganglioside induced differentiation associated protein 1 This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012] 8 8 8 q21.11 71260475 71277203 + 75262618 75279345 + 74350383 74367110 + 1358634;6480464;7240710;8554872;8699517 12499475 10217254;11592034;11743579;11743580;12477932;12566285;12601710;12707075;12868504;14561495;15019704;15489334;15772096;15805163;16343542;16607474;16857173;17433678;17903300;18062449;18231710;18421898;18464913;18492089;18504680;18991200;19089472;19340293;19381883;19500985;19720140;19782751;19837996;19946888;20232219;20301462;20301532;20301641;20301711;20685671;20849849;21199105;21365284;21692914;21753178;21890626;21906983;21965300;22546700;22939629;22971097;23147504;23456260;23542510;23628762;24457600;24816145;54332;8268915 54332 E5RGI2;Q8TB36 AB551556;AB551557;AB551558;ABBA01041980;AC103952;AK292572;AK295594;AL110252;AMYH02018234;BC024939;BC035450;BC036496;CH471068;DB505741;KF458776;NG_008787;NM_001040875;NM_018972;NR_046346;XM_006716457;Y17849 AAH24939;BAF85261;BAG58484;BAJ65577;BAJ65578;BAJ65579;CAA76892;EAW87032;EAW87033;NP_001035808;NP_061845;Q8TB36;XP_006716520 Hs.168950 1674512;1679806;2109341;2120855;2123027;2191337 A004Y31;GDAP1_9778;MARC_17537-17538:1017261090:1;RH12692;RH18434;RH91794 CMT4;CMT4A CMTRIA;Charcot-Marie-Tooth neuropathy 4A;OTTHUMP00000226874;OTTHUMP00000226875;ganglioside differentiation associated protein 1;ganglioside-induced differentiation-associated protein 1;truncated ganglioside differentiation associated protein 1 APPROVED protein-coding ENSG00000104381 HGNC:15968 05963 214400;606598;607706;607831;608340 REVIEWED 1312703 GDAP1L1 ganglioside induced differentiation associated protein 1-like 1 The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012] 20 20 20 q12 39584533 39617621 + 42875739 42909557 + 44247099 44280917 + 6480464 11125086;11780052;12477932;14702039;15342556;15489334;16344560;17207965;8125298 78997 B7Z1I3;B7Z4H3;H0UIB3;H0Y6A7;Q5TE58;Q5TE61;Q96MZ0 ABBA01052635;AF123764;AF123765;AF277566;AI564068;AK056251;AK225166;AK293484;AK297348;AK299259;AK299700;AL035462;AL117382;AMYH02037129;BC000199;BC009014;BP307776;BU165271;BX423630;CH471077;CR749676;DA528340;NM_001256737;NM_001256738;NM_001256739;NM_001256740;NM_024034;NR_046353;XR_244149;XR_244150 AAH00199;AAH09014;AAM73515;AAP97243;AAP97244;ADQ32351;BAB71128;BAH11519;BAH12559;BAH12979;BAH13107;CAH18467;EAW75930;EAW75931;EAW75932;EAW75933;EAW75934;EAW75935;NP_001243666;NP_001243667;NP_001243668;NP_001243669;NP_076939;Q96MZ0 Hs.517059 1778091;2170667 D20S1054;RH12725 DKFZp761K228;dJ881L22.1;dJ995J12.1.1 GDAP1-L1;OTTHUMP00000031054;OTTHUMP00000031056;OTTHUMP00000031058;ganglioside-induced differentiation-associated protein 1-like 1 APPROVED protein-coding ENSG00000124194 HGNC:4213 17033 REVIEWED 1346683 GDI2 GDP dissociation inhibitor 2 GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 10 10 10 p15 5737566 5785880 - 5807186 5855512 - 5765223 5813549 - 1580863;6480464 10512627;10996854;11771757;11809807;12477932;12493773;14702039;15489334;16009940;16130169;16344560;16385451;17507299;18781797;19056867;19135240;19190083;19322201;19570034;19738201;20360068;20562859;21139048;21565611;21890473;21906983;21963094;21987572;21988832;22053931;22505724;22586326;22863883;22939629;23000965;23184937;23727862;23824909;24816145;25027693;7513052;7543319;7585614;7929030;8575461;9434952 2665 P50395;Q5SX86;Q5SX87;Q5SX90;Q5SX91;Q6IAT1;V9GYF8;V9GYJ7 AB451295;AB451429;ABBA01034771;AF144713;AK094671;AK122841;AK297177;AK297554;AK309360;AK312485;AL596094;AMYH02022046;AMYH02022047;BC005145;BC024168;BT006868;BX648038;CH471072;CR457073;D13988;DA069966;EU794614;NM_001115156;NM_001494;Y13286;Y13287 AAD34588;AAH05145;AAH24168;AAP35514;ABM84659;ABM92190;ACJ13668;BAA03095;BAG35388;BAG53755;BAG59669;BAG59947;BAG70109;BAG70243;CAA73734;CAA73735;CAG33354;EAW86430;EAW86431;EAW86432;NP_001108628;NP_001485;P50395 Hs.299055 1653746;1684282;1694436;1771783;2119626;2148188;2172712 174;D12S1392E;G42923;RH11041;RH44646;RH69293;RH80738 FLJ16452;FLJ37352;GDI-2;HEL-S-46e OTTHUMP00000019010;OTTHUMP00000019011;OTTHUMP00000019014;RABGDIB;epididymis secretory sperm binding protein Li 46e;guanosine diphosphate dissociation inhibitor 2;rab GDI beta;rab GDP dissociation inhibitor beta;rab GDP-dissociation inhibitor, beta APPROVED protein-coding ENSG00000057608 HGNC:4227 02863 600767 REVIEWED 3207428 GDI2P2 GDP dissociation inhibitor 2 pseudogene 2 1 1 1 71029529 71030143 + 72740226 72740840 + 72274543 72275157 + 100420259 ABBA01074458;AL365362;AMYH02001258;NG_022783 1684282;2148188 174;RH80738 pseudo HGNC:37976 INFERRED 1345266 GDF5 growth differentiation factor 5 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development. [provided by RefSeq, Jul 2008] 20 20 20 q11.2 30769772 30774651 - 34021149 34026027 - 35433351 35438247 - 1580863;6480464;6907045;7240710;8554872;8699517 10512744;10844590;11282024;11780052;12121354;12124730;12357473;12477932;12543931;12567410;12707774;14660436;14735582;14973287;15489334;15569154;16014698;16127465;16499717;16508114;16532400;16716349;17384641;17602228;17616513;17676627;17989347;18075819;18193045;18203755;18283415;18299287;18391950;18391951;18391952;18629880;18697781;18830904;18947434;18979166;19023570;19029166;19038017;19054821;19058174;19229295;19393216;19453261;19479880;19565498;19652338;19754961;19782107;19874419;19956691;20170953;20189936;20237151;20237496;20360039;20546612;20633687;20683927;20870806;20881960;20939878;21270694;21360499;21543859;21642387;21697133;21936909;21976273;22284607;22615457;22905146;22929025;23090674;23121099;23151597;23226264;23423687;23563607;23725396;23812741;23825960;24003854;24098149;24114442;24398992;24466161;24582800;24861163;7961761;7980526;8589725;8661040;8702914;9057810;9288091;9288098;9451821;9525338;9950587 8200 F1T0J1;P43026;Q2NKW7 A43194;A60247;AB019005;AB593125;ABBA01019160;AL121586;AMYH02036999;BC032495;BC111566;BC111859;BU625224;CH471077;CS025628;CS406372;CS447086;CS453909;CS715846;FO393401;GM000454;GM014136;GM709269;GN042430;NG_008076;NM_000557;U13660;X80915 AAA57007;AAH32495;AAI11567;AAI11860;ACE87521;ADR82729;BAA86941;BAJ84065;CAA02710;CAA03553;CAA56874;CAB89416;CAI61691;CAL40861;CAL69822;CAL85395;CAP40148;CAS92879;CAT68524;CAT82626;CAX48923;EAW76208;EAW76209;NP_000548;P43026 Hs.1573 1795908;1801012;1802436;1803030;1831964;1836736;1837438;1840696;1855973;1973648;1973650;1973652;1973654;1973656;1973658;1973660;1973662;1973664;1973666;1973668;1973670;1973672;1973674;1973676;1973678;1973680;1973682;1973684;1973686;1973688;1973690;1973692;1973694;1973696;1973698;1973700;1973702;1973704;1973706;1973708;2134063;2215258;2215260;2215262;2215264;2215266;2215268 ECD01372;ECD02103;ECD02406;ECD17120;ECD19532;ECD19886;ECD21539;GDF5_1655;REN57710;REN57711;REN57712;REN57713;REN57714;REN57715;REN57716;REN57717;REN57718;REN57719;REN57720;REN57721;REN57722;REN57723;REN57724;REN57725;REN57726;REN57727;REN57728;REN57729;REN57730;REN57731;REN57732;REN57733;REN57734;REN57735;REN57736;REN57737;REN57738;REN57739;REN57740;RH64109;WI-9365;stSG636617;stSG636618;stSG636619;stSG636620;stSG636621;stSG636622 BDA1C;BMP-14;BMP14;CDMP-1;CDMP1;GDF-5;LAP-4;LAP4;OS5;SYM1B;SYNS2 LPS-associated protein 4;OTTHUMP00000030755;OTTHUMP00000061644;bone morphogenetic protein 14;cartilage-derived morphogenetic protein 1;cartilage-derived morphogenetic protein-1;growth/differentiation factor 5;lipopolysaccharide-associated protein 4;radotermin APPROVED protein-coding ENSG00000125965 HGNC:4220 03092 112600;113100;185800;200700;201250;228900;601146;610017;612400;615072;615298 REVIEWED 1352473 GDI2P1 GDP dissociation inhibitor 2 pseudogene 1 7 7 7 p12.3 49043023 49045203 - 48941352 48943599 - 48901756 48904003 - 11287630;15249583;16354680;16914728;9434952 2667 ABBA01008187;AC004899;AC006024;AMYH02015671;CH236955;NG_001124;Y13298 GDI2P APPROVED pseudo HGNC:4228 INFERRED 5686920 GDNF-AS1 GDNF antisense RNA 1 (head to head) 5 5 p13.2 37840540 37875901 + 37840438 37875799 + 16344560;22081608 100861519 G8EF76 ABBA01024193;AC008869;AMYH02011183;DA359107;HG497880;HG497881;JF824129;JF824130;JF824131;NM_001278094;NR_103441;NR_103442 AET79535;NP_001265023 Hs.536820 GDNFOS GDNF opposite strand APPROVED protein-coding ENSG00000248587 HGNC:43592 VALIDATED 1346004 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. This protein may have a role in osteoblast differentiation and growth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] X X X q13.1 69996203 70006563 + 69642881 69653241 + 70423031 70433391 + 737633;1580863;6480464 12477932 12933806;12975309;14702039;15489334;15772651;16169070;16344560;18029348;19596859 54857 Q9HCC8 AB048363;ABBA01067571;AI277430;AK000214;AK097293;AK299255;AK301025;AK307778;AK310090;AK316035;AL139398;AMYH02039658;AY358986;BC032009;CH471132;DA934769;NG_016413;NM_001171191;NM_001171192;NM_001171193;NM_017711 AAH32009;AAQ89345;ACT64459;ACT64460;BAA91014;BAB13350;BAG53448;BAG61286;BAG62641;BAH14406;EAX05339;EAX05340;NP_001164662;NP_001164663;NP_001164664;NP_060181;Q9HCC8 Hs.438712 1855700;2109343;2191291 GDPD2_9836;MARC_17127-17128:1021042642:1;WI-16297 FLJ20207;GDE3;OBDPF OTTHUMP00000023474;glycerophosphodiester phosphodiesterase 3;glycerophosphodiester phosphodiesterase domain-containing protein 2;glycerophosphoinositol inositolphosphodiesterase GDPD2;osteoblast differentiation promoting factor APPROVED protein-coding ENSG00000130055 HGNC:25974 06528 REVIEWED 1349545 GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 17 17 17 q22 53760671 53816151 + 57297828 57353331 + 59220467 59275970 + 1580863;6480464 12477932;14612981;14702039;15489334;17690467;18991142;19946888;21139048;21890473;21906983;24250222 284161 J3KTA9;J3QQN7;J3QRR6;Q8N9F7 ABBA01041366;ABBA01041367;ABBA01041368;ABBA01041369;ABBA01041370;AC091059;AC099850;AI478202;AK094770;AK131013;AMYH02033704;AMYH02033705;AMYH02033706;AMYH02033707;AY271346;BC034432;CH471109;EU192951;NM_001165993;NM_001165994;NM_182569;XM_005257249 AAH34432;AAQ01751;ABW73991;BAC04419;EAW94411;EAW94412;NP_001159465;NP_001159466;NP_872375;Q8N9F7;XP_005257306 Hs.631744 5015619;5016596;5021872;5022200;5022450;5022651;5037552 D10S275;D11S2921;D11S3114;D8S2279;GDB:631802;L18426;sY3084 FLJ27503;FLJ37451;GDE4;MGC35046;UGPQ glycerophosphodiester phosphodiesterase 4;glycerophosphodiester phosphodiesterase domain-containing protein 1 APPROVED protein-coding ENSG00000153982 HGNC:20883 08223 REVIEWED 1345464 GDF3 growth differentiation factor 3 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. [provided by RefSeq, Jul 2008] 12 12 12 p13.1 9419392 9425368 - 7842381 7848360 - 7689785 7695764 - 1580863;6480464;7240710;8554872;8699517 10844590;12477932;12975309;15489334;16126341;16339188;18480259;18823971;19396148;19864492;20237496;20734064;20800603;21805089;22305102;22488170;22963770;23400010;8429021;9467948 9573 Q8NI58;Q9NR23 ABBA01012207;AC006927;AF110641;AF263538;AMYH02025970;AMYH02025971;AY358875;BC030959;CH471116;NG_028167;NM_020634 AAF91389;AAH30959;AAM27000;AAQ89234;ABM83587;ABM86827;EAW88659;NP_065685;Q9NR23 Hs.86232 1681632;1795906 GDF3_670;RH91884 GDF-3;KFS3;MCOP7;MCOPCB6 OTTHUMP00000238775;growth/differentiation factor 3 APPROVED protein-coding ENSG00000184344 HGNC:4218 05938 606522;613702;613703;613704 REVIEWED 735823 GDNF glial cell derived neurotrophic factor This gene encodes a highly conserved neurotrophic factor. The recombinant form of this protein was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. The encoded protein is processed to a mature secreted form that exists as a homodimer. The mature form of the protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene may be associated with Hirschsprung disease. [provided by RefSeq, Jun 2010] 5 5 5 p13.1-p12 37699155 37726173 - 37812779 37839782 - 37812677 37839680 - 704404;1580863;2324925;2324932;6218968;6480464;6218977;6218983;6218965;6218970;6218978;5688774;5688775;5686884;5688777;6218962;7240710;8655552;8554872;8657070;8699517;8657066 10447463;10852218;15144875;15950786;16018990;16644101;18501516;18652760;19162016;19937367;21865882;22081608;22186119;22281106;22342994;9853108 10366742;10809797;10829012;10917288;10921886;11181995;11565554;11588183;11600185;11732574;11756008;11790765;11823451;11842239;11844480;11844483;11900567;11932334;11973622;12358785;12397373;12414995;12477932;12837245;12947332;15003293;15106825;15207271;15211107;15242795;15489334;15708562;15817265;15870700;16081799;16125842;16497298;16569669;16820412;16895582;17009072;17023388;17192954;17229286;17298301;17470563;17490619;17522305;17897812;17935603;18060868;18081024;18222320;18313696;18343820;18353777;18454440;18845535;18970938;19086053;19183406;19184120;19188437;19240061;19282698;19561646;19562947;19584438;19664536;19741036;19825405;19896648;20125088;20237496;20301600;20301612;20301715;20422010;20426902;20448065;20479525;20518854;20538960;20544825;20601681;20677014;20700745;20739562;20936708;20960036;21145461;21200028;21227937;21490379;21514351;21515689;21524799;21621608;21726557;21738758;21769916;21820487;21839809;21858136;21994944;22002662;22019719;22142702;22251670;22326552;22670840;22847529;22971345;23022671;23269553;23606280;23650283;23717608;23769609;24070603;24165321;24247178;24324616;24778213;7490108;7830766;7830769;7867768;8493557;8522325;8637574;8657307;8674117;8896568;8896569;8968758;8988018;9098026;9359036;9407096;9482105;9497256;9808338;9811930;9853901 2668 AAB33493;AAB33494;P39905 ABBA01024193;AC008869;AF053748;AF053749;AF063586;AJ001896;AJ001897;AJ001898;AJ001899;AJ001900;AMYH02011183;AY052832;BC008580;BC069119;BC069369;BC128108;BC128109;CH471119;CR541923;DQ235474;HI949612;L19063;NG_011675;NM_000514;NM_001190468;NM_001190469;NM_001278098;NM_199231 AAA67910;AAB33493;AAB33494;AAC98782;AAD43139;AAH08580;AAH69119;AAH69369;AAI28109;AAI28110;AAL11017;CAA05074;CAA05075;CAA05076;CAA05077;CAA05078;CAG46721;CBY79817;EAW55963;EAW55964;NP_000505;NP_001177397;NP_001177398;NP_001265027;NP_954701;P39905 Hs.248114 1341555;1728999;1764605;2165302;2217362;5022651 D11S2921;D5S2021;GDNF_3150;Gdnf;RH70036;SHGC-148195 ATF;ATF1;ATF2;HFB1-GDNF;HSCR3;hGDNF OTTHUMP00000116024;OTTHUMP00000116025;OTTHUMP00000221304;OTTHUMP00000221305;OTTHUMP00000221306;OTTHUMP00000221307;astrocyte-derived trophic factor;glial cell line derived neurotrophic factor;glial cell line-derived neurotrophic factor APPROVED protein-coding ENSG00000168621 HGNC:4232 02906 171300;209880;600837;613711 REVIEWED 731728 GDI1 GDP dissociation inhibitor 1 GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific mental retardation. [provided by RefSeq, Jul 2008] X X X q28 153826304 153832858 + 153665259 153671814 + 154436913 154443467 + 1580863;704404;6480464;7240710;8699517;8554872 10751420;11076863;11256614;11583574;11741295;11809807;12198156;12477932;12777533;12802062;1286667;14702039;15166316;15292224;15480879;15489334;15489336;15592455;15647276;16344560;16368544;16381901;16596196;16713569;17353931;17568003;18255255;18487148;19570034;19996123;20381070;20562859;21139048;21145461;2115118;21319273;21565611;21736009;21890473;21900206;21906983;21963094;21987572;22002931;22053931;22114354;22505724;22586326;22863883;22939629;23000965;23140504;24816145;7513052;7543319;7585614;7744738;7849400;8175798;8248200;8281148;8491184;8733135;8826463;8836150;9106537;9490022;9620768;9668174;9674910 2664 F8WCU0;F8WE59;G5E9U5;P31150 AB101741;AB101742;AB101743;AB101744;AB101745;AB101746;AB101747;AB101748;AB101749;AB101750;AB101751;AB101752;AB101753;AB101754;AB101755;AB101756;AB101757;AB101758;AB101759;AB101760;AB101771;AB101772;AB101773;AB101774;AB101775;AB101776;AB101777;AB101778;AB101779;AB101780;AB101781;AB101782;AB101783;AB101784;AB101785;AB101786;AB101787;AB101788;AB101789;AB101790;AB101801;AB101802;AB101803;AB101804;AB101805;AB101806;AB101807;AB101808;AB101809;AB101810;AB101811;AB101812;AB101813;AB101814;AB101815;AB101816;AB101817;AB101818;AB101819;AB101820;AB101831;AB101832;AB101833;AB101834;AB101835;AB101836;AB101837;AB101838;AB101839;AB101840;AB101841;AB101842;AB101843;AB101844;AB101845;AB101846;AB101847;AB101848;AB101849;AB101850;AB102647;ABBA01045282;ABBA01045283;ABBA01045284;ABBA01045285;ABBA01045286;ABBA01045287;AC244090;AF400433;AK090746;AK123405;AK131466;AK294893;AK295306;AK303248;AL833629;BC000317;BC012201;BT019884;BX936385;CH471172;CR542258;CR542276;D45021;DA133083;DB005169;EF212243;EF212248;L05086;L44140;NG_008954;NM_001493;U14623;X74608;X79353;X79354;X87194 AAA21558;AAA92648;AAC15851;AAH00317;AAH12201;AAK92482;AAV38687;ABM82975;ABM86169;ABM87842;BAA08078;BAC80330;BAC80331;BAC80332;BAC80333;BAC80334;BAC80335;BAC80336;BAC80337;BAC80338;BAC80339;BAC80340;BAC80341;BAC80342;BAC80343;BAC80344;BAC80345;BAC80346;BAC80347;BAC80348;BAC80349;BAC80360;BAC80361;BAC80362;BAC80363;BAC80364;BAC80365;BAC80366;BAC80367;BAC80368;BAC80369;BAC80370;BAC80371;BAC80372;BAC80373;BAC80374;BAC80375;BAC80376;BAC80377;BAC80378;BAC80379;BAC80390;BAC80391;BAC80392;BAC80393;BAC80394;BAC80395;BAC80396;BAC80397;BAC80398;BAC80399;BAC80400;BAC80401;BAC80402;BAC80403;BAC80404;BAC80405;BAC80406;BAC80407;BAC80408;BAC80409;BAC80420;BAC80421;BAC80422;BAC80423;BAC80424;BAC80425;BAC80426;BAC80427;BAC80428;BAC80429;BAC80430;BAC80431;BAC80432;BAC80433;BAC80434;BAC80435;BAC80436;BAC80437;BAC80438;BAC80439;BAC81116;BAG57985;BAG58286;BAG64332;CAA55908;CAA55909;CAG47054;CAG47072;CAL37538;CAL38104;CAL38477;EAW72709;EAW72710;EAW72711;NP_001484;P31150 Hs.595950;Hs.74576 1647559;1657750;1667649;1702278;1703114;1744617;1748025;1748027;1748063;1748065;1748067;1748071;1787972;1787974;1787976;1787978;1800854;1803456;1803870;1805268;1806180;1806942;1807752;1807754;1808018;1808240;1810544;1811224;1811570;1812090;1812364;1812434;1812436;1812628;1813012;1813168;1813728;1813966;1825204;1831038;1832566;1833682;1838744;1839912;1844382;2036908;2036912;2036916;2036918;2036920;2036922;2036924;2036926;2036930;2036932;2036934;2036936;2036938;2036940;2036942;2036944;2036946;2036948;2036952;2036956;2036958;2036960;2036962;2036964;2036966;2036968;2036972;2036974;2036976;2036978;2036980;2036982;2036984;2036986;2036988;2036990;2036992;2036994;2037002;2037004;2037006;2037008;2037010;2037012;2037014;2037016;2037018;2037022;2037024;2037026;2037038;2037040;2037042;2037044;2037048;2037050;2037052;2037054;2037056;2037058;2037060;2037064;2037068;2037070;2037072;2037074;2037076;2037078;2037082;2037084;2037086;2037088;2037090;2037092;2037094;2037096;2037098;2037100;2037102;2037104;2037106;2037108;2037110;2037112;2037114;2037116;2037118;2037120;2037122;2037124;2037126;2037128;2037130;2037132;2037134;2037136;2037138;2037140;2037142;2037144;2037146;2037148;2037150;2037152;2037154;2037156;2037158;2037160;2037162;2037164;2037166;2037168;2037170;2102520;2102524;2102526;2102528;2102530;2102532;2102538;2102540;2102542;2102544;2102546;2102548;2106697;2107147;2159883;2176605;2178179;2190599;2219020;5019917 ATP6AP1__4395;DXS7010E;DXS7587;ECD01292;ECD02625;ECD02847;ECD03579;ECD04044;ECD04436;ECD04849;ECD04850;ECD04987;ECD05101;ECD06265;ECD06610;ECD06788;ECD07050;ECD07189;ECD07224;ECD07225;ECD07324;ECD07523;ECD07603;ECD07887;ECD08010;ECD13703;ECD16655;ECD17423;ECD17986;ECD20550;ECD21139;ECD23405;G54832;G65808;G65809;G65811;G65814;G65817;G65818;G67208;G67209;G67210;G67211;GDB:548776;GDI1;GDI1__6799;REN89465;REN89467;REN89469;REN89470;REN89471;REN89472;REN89473;REN89474;REN89476;REN89477;REN89478;REN89479;REN89480;REN89481;REN89482;REN89483;REN89484;REN89485;REN89487;REN89489;REN89490;REN89491;REN89492;REN89493;REN89494;REN89495;REN89497;REN89498;REN89499;REN89500;REN89501;REN89502;REN89503;REN89504;REN89505;REN89506;REN89507;REN89508;REN89512;REN89513;REN89514;REN89515;REN89516;REN89517;REN89518;REN89519;REN89520;REN89522;REN89523;REN89524;REN89530;REN89531;REN89532;REN89533;REN89535;REN89536;REN89537;REN89538;REN89539;REN89540;REN89541;REN89543;REN89545;REN89546;REN89547;REN89548;REN89549;REN89550;REN89552;REN89553;REN89554;REN89555;REN89556;REN89557;REN89558;REN89559;REN89560;REN89561;REN89562;REN89563;REN89564;REN89565;REN89566;REN89567;REN89568;REN89569;REN89570;REN89571;REN89572;REN89573;REN89574;REN89575;REN89576;REN89577;REN89578;REN89579;REN89580;REN89581;REN89582;REN89583;REN89584;REN89585;REN89586;REN89587;REN89588;REN89589;REN89590;REN89591;REN89592;REN89593;REN89594;REN89595;REN89596;RH68908;RH77733;SGC32232;STS-M78866;TAZ__5218;WI-9327;sWXD2362;stSG604031;stSG604033;stSG604034;stSG604035;stSG604036;stSG604037;stSG604044;stSG604045;stSG604046;stSG604051;stSG604052;stSG604053 1A;FLJ41411;GDI-1;GDIL;MRX41;MRX48;OPHN2;RABGD1A;XAP-4 OTTHUMP00000032118;RABGDIA;guanosine diphosphate dissociation inhibitor 1;mental retardation, X-linked 41;mental retardation, X-linked 48;oligophrenin-2;rab GDI alpha;rab GDP dissociation inhibitor alpha;rab GDP-dissociation inhibitor, alpha APPROVED protein-coding ENSG00000203879 HGNC:4226 02114 300104;300849 REVIEWED 1602967 GDPD4 glycerophosphodiester phosphodiesterase domain containing 4 ENCODES a protein that exhibits glycerophosphodiester phosphodiesterase activity (inferred); metal ion binding (inferred); INVOLVED IN glycerol metabolic process (inferred); lipid metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 3-methylcholanthrene; atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q13.5 74235230 74306103 - 76927603 77012699 - 77216558 77301654 - 6480464;8554872 220032 Q6W3E5 ABBA01017437;ABBA01017438;AMYH02025130;AMYH02025131;AP001855;AP002827;AY313782;AY326450;CH471076;NM_182833;XM_005273837 AAI60091;AAP92403;AAQ72549;EAW75024;EAW75025;NP_878253;Q6W3E5;XP_005273894 Hs.249795 1336531;1662085;1728707;1762623 D11S4186;G63725;RH65478;SHGC-146429 GDE6;ugpQ GDPD domain containing protein;OTTHUMP00000228565;OTTHUMP00000228566;glycerophosphodiester phosphodiesterase 6;glycerophosphodiester phosphodiesterase domain-containing protein 4 protein-coding ENSG00000178795 HGNC:24849 17320 PROVISIONAL 1351557 GEMIN2 gem (nuclear organelle) associated protein 2 This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011] 14 14 14 q13 19448115 19470806 + 39583488 39606177 + 39114284 39136973 + 1580863;6480464 10531003;10601333;10725331;10909848;10942426;11092763;11121410;11135666;11149922;11181573;11389857;11509230;11522829;11713266;11714716;11748230;11914277;11943600;12065586;12477932;12668731;12714599;14697339;15130578;15489334;15964810;16731905;17308308;17353931;18187620;18247312;18984161;19322201;19381684;19750561;19806322;19830559;19915660;19928837;20098747;20301526;20403813;20515682;21300694;21565611;21732698;21816274;21900206;21913013;21972558;21994574;22190034;22607171;22678362;23221635;23752268;23939045;24250222;24457600;9295360;9323129;9323130;9447963 8487 G5EA29;H0YCF4;H0YDP6;H0YEL0;O14893;S4R421 AB037701;AB037702;AB037703;ABBA01061546;ABBA01061547;ABBA01061548;AF027150;AJ250932;AJ250939;AK313947;AL109628;AMYH02029049;AMYH02029050;BC028095;BC104968;CH471078;CN484054;NG_016643;NM_001009182;NM_001009183;NM_003616 AAB82297;AAI04969;BAB03508;BAB03509;BAB03510;BAG36665;CAC16117;CAC16171;EAW65825;EAW65826;EAW65827;EAW65828;EAW65829;EAW65830;NP_001009182;NP_001009183;NP_003607;O14893 Hs.652307 1663942;1770425;2186941 G36130;RH69377;STS-N26026 SIP1;SIP1-delta OTTHUMP00000178874;OTTHUMP00000200374;OTTHUMP00000200375;OTTHUMP00000231929;OTTHUMP00000231930;SMN interacting protein 1-delta;component of gems 2;gem-associated protein 2;gemin-2;survival of motor neuron protein interacting protein 1;survival of motor neuron protein-interacting protein 1 APPROVED protein-coding ENSG00000092208 HGNC:10884 03999 602595 REVIEWED 7820776 GEMIN2P1 gem (nuclear organelle) associated protein 2 pseudogene 1 1 1 153670733 153690782 - 153698257 153718306 - 101929669 AC217323;AL513523;AL713889;AMYH02001905;AMYH02001906;AMYH02001907 pseudo HGNC:49561 MODEL 1344278 GEMIN4 gem (nuclear organelle) associated protein 4 The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 p13 659753 667593 - 647661 656038 - 744421 752798 - 1580863;6480464 10531003;10725331;10942426;11149922;11230166;11509230;11522829;11642406;11713266;11714716;11748230;11914277;12065586;12477932;12549820;12668731;12869526;14603441;14970384;15130578;15385968;16301532;17353931;18675250;18984161;19047128;19056867;19138993;19471022;19596235;19851984;19928837;19946888;20211803;20231361;20562859;20585341;20696395;20721975;20732906;20819778;21139048;21565611;21890473;21906983;21963094;21987572;21988832;22053931;22190034;22505724;22506892;22586326;22952844;22990118;23143396;23221635;23246001;23535732;23752268;23956138;24239288;24250222;24332808;24457600;24816145 50628 E7EN12;I3L1J7;I3L2C7;I3L399;I3L4A4;I3L4M4;P57678;Q8WUM5 ABBA01054619;AC087392;AF173856;AF177341;AF258545;AK302722;AL080150;AL080167;AMYH02032721;BC020062;BC032084;BC036024;CH471108;DB455185;NM_015721;XM_005256667;XM_005256668;XM_005256670 AAF35283;AAG17985;AAG24546;AAH20062;ACE87641;BAG63941;CAB45743;CAB45755;EAW90653;EAW90654;NP_056536;P57678;XP_005256724;XP_005256725;XP_005256727 Hs.499620 1680960;1736923 D17S1569;RH75762 DKFZp434B131;DKFZp434D174;HC56;HCAP1;HHRF-1;p97 HCC-associated protein 1;component of gems 4;gem-associated protein 4;gemin-4 APPROVED protein-coding ENSG00000179409 HGNC:15717 07370 606969 REVIEWED 1601852 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ENCODES a protein that exhibits glycerophosphodiester phosphodiesterase activity (inferred); metal ion binding (inferred); INVOLVED IN glycerol metabolic process (inferred); lipid metabolic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile; 1-naphthyl isothiocyanate; 17beta-estradiol 16 16 16 p11.2 72671173 72679590 + 30115977 30125264 - 30104810 30113943 - 6480464 12477932;14702039;15489334;19056867;21145461;8125298 79153 H3BMN9;H3BPX3;Q7L5L3 ABBA01013103;ABBA01013104;AC012645;AC243947;AK026256;AK225450;BC002714;CH471238;NM_024307;XR_243306;XR_243307 AAH02714;BAB15414;EAW79918;EAW79919;EAW79920;NP_077283;Q7L5L3 Hs.289015 1662843;1672220;1684726;1687037;1797848 G15873;MAPK3_2268;RH77963;SHGC-34253;SHGC-61070 FLJ22603;MGC4171 OTTHUMP00000162982;glycerophosphodiester phosphodiesterase domain-containing protein 3 protein-coding HGNC:28638 08330 VALIDATED 1322484 GEMIN6 gem (nuclear organelle) associated protein 6 GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002] 2 2 2 p22.1 38846359 38850136 + 39005327 39009598 + 38778185 38782456 + 6480464 10531003;11748230;12065586;12477932;14702039;15130578;15489334;15815621;15848170;15939020;17023415;18984161;19322201;19596235;19928837;21139048;21890473;21906983;22190034;22678362;23000965;23221635;23956138 79833 B8ZZ85;B9A037;Q8WXD5 ABBA01075019;AC018693;AF453443;AK027112;AK315627;AMYH02003632;AMYH02003633;BC018195;BC029584;BM471707;CH471053;NM_024775;XM_005264568 AAH18195;AAL48292;AAY24255;BAB15660;BAG37995;EAX00360;EAX00361;NP_079051;Q8WXD5;XP_005264625 Hs.143818 FLJ23459;SIP2 OTTHUMP00000158740;gem-associated protein 6;gemin 6;gemin-6 APPROVED protein-coding HGNC:20044 06110 607006 VALIDATED 1316557 GEM GTP binding protein overexpressed in skeletal muscle The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 8 8 8 q13-q21 91447594 91460660 - 95261481 95274547 - 94249253 94262319 - 1580863;6480464 11395774;11956230;12093360;12477932;14701738;15489334;16189514;16242932;16344560;17052716;17107948;18624398;19060904;20233927;21988832;22589533;22964304;24586148;7809057;7912851;8825643;9115241 2669 E5RJF9;P55040 ABBA01037452;AK314017;AMYH02018424;AP003478;BC022010;BI759640;CH471060;DB018783;NM_005261;NM_181702;U10550;U13052 AAA64911;AAC50067;AAH22010;ABM81747;ABM84902;BAG36728;EAW91709;EAW91710;NP_005252;NP_859053;P55040 Hs.654463 1722385;1735834;1795910;1857256;2126385;2176948 D8S1433E;D8S1607;G60265;GEM_100;RH17992;WI-21164 KIR;MGC26294 GTP-binding mitogen-induced T-cell protein;GTP-binding protein GEM;GTP-binding protein overexpressed in skeletal muscle;OTTHUMP00000226600;OTTHUMP00000226601;RAS-like protein KIR;kinase-inducible Ras-like protein APPROVED protein-coding ENSG00000164949 HGNC:4234 11553 600164 REVIEWED 7823458 GEMIN2P2 gem (nuclear organelle) associated protein 2 pseudogene 2 3 3 3 p22.1 41993274 42068152 + 42018520 42019352 + 41977028 41977860 + 20379614;22589738 100287063 ABBA01024776;AC137935;AMYH02006618 pseudo HGNC:49562 MODEL 1605191 GDPGP1 GDP-D-glucose phosphorylase 1 ENCODES a protein that exhibits GDP-D-glucose phosphorylase activity; INVOLVED IN glucose metabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH flutamide (ortholog) 15 15 15 q26.1 67181866 67189691 + 90777487 90785312 + 90234255 90242080 + 6480464;8554872 12477932;19322201;21139048;21507950;24250222 390637 H0YL31;H0YN11;Q6ZNW5 ABBA01053049;AC091167;AK130527;AMYH02031037;BC127821;BX440248;CH471101;NM_001013657 AAI27822;AAI48395;AAI53018;BAC85370;EAX02091;EAX02092;NP_001013679;Q6ZNW5 Hs.304673 C15orf58;VTC2 GDP-D-Glucose phosphorylase;GDP-D-glucose phosphorylase C15orf58;hypothetical protein LOC390637 APPROVED protein-coding HGNC:34360 18400 VALIDATED 2881092 GEMIN8P3 gem (nuclear organelle) associated protein 8 pseudogene 3 X X X 85798928 85799648 + 85559370 85560090 + 86304367 86305087 + 100421535 ABBA01051771;AMYH02039901;NG_022678;Z95124 pseudo HGNC:37978 INFERRED 3436550 GEMIN8P2 gem (nuclear organelle) associated protein 8 pseudogene 2 16 16 16 q21 43311032 43312052 + 58810444 58811464 + 58776540 58777560 + 644600 ABBA01025316;AC012183;AMYH02032134;NG_022523 pseudo HGNC:37977 INFERRED 1350190 GEMIN8P1 gem (nuclear organelle) associated protein 8 pseudogene 1 15 15 15 q23 46984635 46985662 - 70095454 70096481 - 69803115 69804142 - 100128431 ABBA01038766;AC021818;AMYH02030704;NG_009513 2180544 AFMA052VG5 FAM51A2P;GEMIN8P APPROVED pseudo HGNC:31818 INFERRED 1354242 GEMIN7 gem (nuclear organelle) associated protein 7 The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 42386805 42399066 + 45579024 45594782 + 45075814 45091524 + 1580863;6480464 10531003;11748230;12065586;12477932;14702039;15130578;15489334;15848170;16159890;16169070;16712791;17023415;18984161;19928837;21139048;21900206;22190034;23221635 79760 Q9H840 ABBA01040910;ABBA01040911;AC011489;AK024018;AMYH02036191;AX881114;AY114106;BC007793;BU602037;CB148876;CH471126;CR457321;NM_001007269;NM_001007270;NM_024707;W35331;XM_005259262;XM_005259263;XM_005259264 AAH07793;AAM44083;BAB14780;CAE91216;CAG33602;EAW57321;NP_001007270;NP_001007271;NP_078983;Q9H840;XP_005259319;XP_005259320;XP_005259321 Hs.466919 1769204;1784426;1851162;2107149 G31107;GEMIN7__6800;SHGC-112;SHGC-132042 SIP3 gem-associated protein 7;gemin 7;gemin-7 APPROVED protein-coding ENSG00000142252 HGNC:20045 07600 607419 REVIEWED 1606393 GEN1 GEN1 Holliday junction 5' flap endonuclease ENCODES a protein that exhibits crossover junction endodeoxyribonuclease activity; INVOLVED IN DNA catabolic process, endonucleolytic; double-strand break repair via homologous recombination; positive regulation of mitotic cell cycle spindle assembly checkpoint; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; extracellular vesicular exosome; INTERACTS WITH calcitriol; dasatinib (anhydrous); methyl methanesulfonate 2 2 2 p24.2 17815464 17846898 + 17935152 17966632 + 17753885 17785365 + 6480464;8554872 12477932;14702039;15576351;19020614;20040574;20379614;20512659;20610542;20634321;20800603;21890473;23108668;23166748;24076221;24080495;24250222 348654 E9PLG0;E9PM30;Q17RS7 ABBA01018508;AC093731;AC097377;AK025489;AK093631;AK098188;AK131387;AMYH02003343;BC035863;BC038243;BC117204;BC117206;BX490061;CH471053;CR936783;NM_001130009;NM_182625;XM_005262613;XM_006712005;XM_006712006 AAI17205;AAI17207;ADR83431;BAC05254;BAD18538;EAX00865;NP_001123481;NP_872431;Q17RS7;XP_005262670;XP_006712068;XP_006712069 Hs.467793 2118497;5020635;5022578;5024035;5037552;5112189 D13S116;D1S1423;D7S3207;D8S2279;RH102267;RH12036 DKFZp781F0986;FLJ36312;FLJ40869;Gen Gen endonuclease homolog 1;Gen homolog 1, endonuclease;Holliday junction resolvase;OTTHUMP00000149987;flap endonuclease GEN homolog 1 APPROVED protein-coding ENSG00000178295 HGNC:26881 08813 612449 VALIDATED 1343150 GEMIN8 gem (nuclear organelle) associated protein 8 The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] X X X p22.2 18140750 18163940 - 14024845 14048035 - 14006709 14029916 - 6480464 12477932;14702039;15489334;16434402;17023415;18029348;18984161;19928837;21832049;21890473;22505724;22678362;23221635;24654937 54960 H7BYE2;Q9NWZ8 ABBA01071159;ABBA01071160;ABBA01071161;ABBA01071162;ABBA01071163;AC003035;AK000521;AK095002;AK125062;AMYH02038901;AMYH02038902;BC003607;BC014324;BC020785;BX386466;CH471074;CR457241;DQ224033;NG_021285;NM_001042479;NM_001042480;NM_017856;XM_005274555;XM_005274556;XM_006724501;XM_006724502 AAH03607;AAH14324;AAH20785;ABB46495;ADZ16065;BAA91227;BAC86038;CAG33522;EAW98851;EAW98852;EAW98853;EAW98854;EAW98855;EAW98856;NP_001035944;NP_001035945;NP_060326;Q9NWZ8;XP_005274612;XP_005274613;XP_006724564;XP_006724565 Hs.592237 1687007;1701800;1740275;5014051;5037552 D8S2278;D8S2279;DXS1112E;DXS69;RH69517 FAM51A1;FLJ20514;FLJ43072 OTTHUMP00000022942;OTTHUMP00000022943;OTTHUMP00000022944;family with sequence similarity 51, member A1;gem-associated protein 8;gemin-8 APPROVED protein-coding HGNC:26044 06533 REVIEWED 3051268 GEMIN8P4 gem (nuclear organelle) associated protein 8 pseudogene 4 1 1 1 p22 88704516 88706217 - 90458824 90460525 - 89993265 89994966 - 12477932 492303 ABBA01045584;AL391497;AMYH02001443;AY726571;BC009550;BC041038;BC053364;NR_002830 Hs.550796 1687007 RH69517 pseudo HGNC:37979 PROVISIONAL 1321352 GEMIN5 gem (nuclear organelle) associated protein 5 This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 5 5 5 q33.2 150343913 150394636 - 154266976 154317776 - 154887416 154938216 - 1580863;6480464;8554872 10531003;11714716;11914277;12065586;12477932;14702039;15130578;15302935;15489334;16230076;16344560;16739988;16857593;16964243;17081983;17381311;17541429;17640370;17640873;18029348;18245461;18781797;18984161;19377484;19750007;19946888;20085707;20513430;21139048;21145461;21906983;21963094;22268729;22586326;22863883;22939629;22990118;23000965;23182705;23221635;23246001;24332808;24457600;24550385;24598255;24639526;24654937;25027693 25929 B7ZLC9;Q58EZ8;Q8TEQ6 ABBA01026217;ABBA01026218;AC008421;AK022748;AK074066;AK315101;AL117665;AMYH02012513;AY063750;BC008776;BC014147;BC036894;BC040931;BC113614;BC143724;BX329222;CH471062;DA328736;DA400244;NM_001252156;NM_015465 AAH08776;AAH14147;AAH36894;AAI13615;AAI43725;AAL38980;BAB14222;BAB84892;CAB56035;EAW61623;EAW61624;NP_001239085;NP_056280;Q8TEQ6 Hs.483921 1671705;1698506;1754723;2130847;2136452 L31480;RH102803;RH47000;SHGC-133084;SHGC-64126 DKFZp586M1824;GEMIN-5;MGC142174 OTTHUMP00000160692;gem-associated protein 5;gemin 5 APPROVED protein-coding ENSG00000082516 HGNC:20043 06109 607005 REVIEWED 619574 GFAP glial fibrillary acidic protein This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 17 17 17 q21 39693499 39703421 - 42982994 42992920 - 44905626 44915552 - 704404;1580863;5508793;6480511;6480531;6480471;6480464;5490154;5490129;7240710;8554872;8695957;8699517 10225952;16219025;18836575;19959621;20111877;21250919;8833197 10510252;10597774;11138011;11379820;11519482;11567214;11587071;11595337;11867077;11891800;12034796;12058025;12084347;12169273;12177195;12355421;12447932;12477932;12581808;12686604;12771190;12837269;12884016;12931206;12944715;12975300;14557587;14702039;15174051;15238995;15284230;15285794;15465095;15469203;15477559;15489334;15519244;15732097;15837555;15839736;15885920;15979880;1601131;1602151;16147953;16168593;16168595;16189514;16217707;16303762;16344560;1636374;16365790;16458536;16507904;16507909;16565071;16773221;16826512;16866629;17008879;17077296;17203480;17318298;17500595;17515952;17590381;17601350;17703343;17805552;17894839;17934883;17981838;17985264;18004641;18054694;18079314;18197187;18239623;18276609;1847665;18508349;18685083;18977241;19019082;19034380;19110265;19129171;19170683;1918004;19221847;19264642;19283393;19372295;19379794;19405953;19420941;19427371;19444543;19447584;19508443;19521276;19540848;19618846;19647039;19663312;19668151;19686046;19878567;19886840;19888461;20048155;20121722;20301351;20395553;20471030;20473970;20578042;20625342;20721574;20849398;20886841;20936779;20942581;21075782;21079180;2114109;21197541;21368691;2155236;2163003;21702960;21756903;21779366;21832049;21876753;21917775;21976236;21987397;21988832;2201025;22118268;22206859;22318658;22360420;22410258;22488673;22492246;22797925;22985558;23321059;23364391;23371454;23392373;23418544;23489259;2349237;23594359;23624779;23626774;23634874;23743246;23746601;23826164;23827424;23903069;23911257;23991052;24045243;24102621;24269023;24501781;2740350;2780570;7822264;7842474;7964717;8125298;8318270;8381971;8889548;9099667;9417904;9693047 2670 A7REI1;B4DIR1;K7EIL2;K7EJK1;K7EJU1;K7EKD1;K7EKH6;K7EKH9;K7ELP4;K7EMP8;K7EPI4;K7EPT8;P14136 ABBA01028341;AC015936;AF419299;AJ306447;AK098380;AK098758;AK124465;AK128790;AK222683;AK295734;AK296259;AK303728;AK315398;AL133013;AMYH02033503;AY142187;AY142188;AY142191;BC012228;BC013596;BC041765;BC062609;BC127871;BF341765;BF526347;BM687259;BM931499;CH471178;CS088769;DA254392;DA315956;DQ979832;J04569;M26638;M67446;NG_008401;NM_001131019;NM_001242376;NM_002055;S40719;U92979 AAA52528;AAA52529;AAB22581;AAH13596;AAH41765;AAH62609;AAI27872;AAL16662;AAN87903;AAN87904;AAN87907;ABL14186;ADZ15678;BAC87610;BAD96403;BAG37791;BAG58573;BAG58972;BAG64704;CAB61354;CAC69881;CAI99149;EAW51567;EAW51568;EAW51569;EAW51570;EAW51571;NP_001124491;NP_001229305;NP_002046;P14136 Hs.514227 1669010;1722383;1734034;1775122;1795912;2153626;2167075;2180900 D17S1334;G10623;G60263;GFAP_102;IB801;RH66365;RH78023;SGC30523 FLJ42474;FLJ45472 APPROVED protein-coding ENSG00000131095 HGNC:4235 00675 137780;203450 REVIEWED 736290 GFER growth factor, augmenter of liver regeneration The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008] 16 16 16 p13.3-p13.12 2246329 2249928 + 2034150 2037750 + 1984149 1987749 + 1580863;6480464;7240710;8554872;8699517 10206950;10384986;10982794;11709497;11819575;11879572;11925624;12180965;12477932;12681483;12681488;14500725;15304329;15489334;1552903;15894171;15982324;16169070;16677602;16865786;16937489;17336303;18029348;18272248;18513187;19335987;19397338;19409522;19616613;19629817;20066738;20382118;20393596;20593814;20690902;20816831;20877624;21152698;21383138;21636978;21890473;21988832;22224850;22246190;22476097;22863717;22948913;23207295;23597483;23676665;23810409;23887691;23916837;24147449;24225952;24284796;3568764;6843662;8076931;8575761;8900538;9813496 2671 H3BQQ4;H3BRD2;H3BRW3;P55789 ABBA01030284;AC005606;AF124603;AF124604;AF146394;AF183892;AF208342;AF306863;AJ238317;AMYH02031241;AY550027;BC002429;BC028348;BG705583;CH471112;NG_016288;NM_005262;U31176 AAA96390;AAD17327;AAD17328;AAD36986;AAD56538;AAG38105;AAG43494;AAH02429;AAH28348;AAS55642;CAB87993;EAW85578;EAW85579;EAW85580;NP_005253;P55789 Hs.27184 1683751;1686792;2162549 RH70597;RH80826;RH98312 ALR;ERV1;HERV1;HPO;HPO1;HPO2;HSS ERV1 homolog;FAD-linked sulfhydryl oxidase ALR;erv1-like growth factor;growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae);growth factor, erv1 -like;hepatic regenerative stimulation substance;hepatopoietin protein;truncated augmenter of liver regeneration APPROVED protein-coding ENSG00000127554 HGNC:4236 02954 600924;613076 REVIEWED 1323234 GET4 golgi to ER traffic protein 4 homolog (S. cerevisiae) INVOLVED IN tail-anchored membrane protein insertion into ER membrane; FOUND IN BAT3 complex; cytosol; INTERACTS WITH lead(0); lead(2+); methyl methanesulfonate 7 7 7 p22.3 885435 904670 + 916191 936073 + 876554 896434 + 737633;6480464 12477932 10810093;12690205;14702039;15489334;16169070;16196087;16341674;17353931;18249086;18781797;19615732;19616115;20106980;20676083;21139048;21636303;22863883;22939629;23246001;23383273;23665563;23723067;24722188;24727835;24816145;24885147;25036637;8889548 51608 C9JHN8;C9JPA8;C9JY46;Q7L5D6 ABBA01039306;ABBA01039307;AC073957;AC099731;AF132954;AK023560;AK024305;AK097899;AK125863;AL133014;AMYH02015036;BC003550;BG109419;BM843540;BM980767;CH236965;CH471144;KF458356;NM_015949 AAD27729;AAH03550;BAG51289;BAG53546;BAG54258;CAB61355;EAL23708;EAW87179;EAW87180;NP_057033;Q7L5D6 Hs.107387 1747651;1762829;2129378;2159423;2164765;5126394 A004D11;A004O12;G65486;RH12698;SHGC-146602;SHGC-64038 C7orf20;CEE;CGI-20;TRC35 Golgi to ER traffic protein 4 homolog;H_NH1244M04.5;OTTHUMP00000140263;OTTHUMP00000200021;conserved edge expressed protein;conserved edge protein;conserved edge-expressed protein;transmembrane domain recognition complex 35 kDa subunit;transmembrane domain recognition complex, 35kDa APPROVED protein-coding ENSG00000239857 HGNC:21690 12909 612056 VALIDATED 1342920 GFI2 growth factor independent 2 2666 HGNC:4239 1603941 GFM2 G elongation factor, mitochondrial 2 Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013] 5 5 5 q13 69911787 69957794 - 74017029 74063196 - 74721204 74767371 - 6480464;8554872 11735030;12477932;15489334;16632485;18753147;19716793;20877624;21139048;21906983;21963094;22719265 84340 D6RAL1;D6RF75;Q969S9 AA418187;ABBA01061934;ABBA01061935;AC093214;AF111808;AF367997;AK025314;AK307839;AK308422;AK315705;AMYH02011575;AMYH02011576;AMYH02011577;AY453587;BC015712;BC030612;BI828937;BU622328;CH471084;DC402212;NG_011531;NM_001281302;NM_032380;NM_170681;NM_170691;NR_104006;XM_006714721 AAH15712;AAH30612;AAK53401;AAL39010;AAS49035;ADZ16046;BAB15109;EAW95743;EAW95744;EAW95745;EAW95746;EAW95747;EAW95748;NP_001268231;NP_115756;NP_733781;NP_733792;Q969S9;XP_006714784 Hs.277154;Hs.656975 1672097;1700518;1735492;1735526;1750679;1785692;2121650;2139534 D5S1611E;D5S1663E;RH103880;SHGC-111990;SHGC-32009;SHGC-79002;STS-R97079;WI-16064 EF-G2mt;EFG2;MRRF2;MST027;MSTP027;RRF2;RRF2mt;hEFG2;mEF-G 2 OTTHUMP00000128233;OTTHUMP00000128234;OTTHUMP00000222950;OTTHUMP00000222951;OTTHUMP00000222952;elongation factor G 2, mitochondrial;mitochondrial elongation factor G2;mitochondrial ribosome recycling factor 2;ribosome-releasing factor 2, mitochondrial APPROVED protein-coding ENSG00000164347 HGNC:29682 09413 606544 REVIEWED 1604558 GFM1 G elongation factor, mitochondrial 1 Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008] 3 3 3 q25 156784902 156832946 + 158362286 158410361 + 158644497 158692572 + 6480464;7240710;8554872;8699517 11374907;11735030;12477932;14702039;15358359;15489334;15537906;16248985;16632485;17160893;18157088;19135240;19695239;19716793;20843780;20877624;21139048;21890473;21906983;21963094;21986555;23798571;24816145;25027693;2556394;3169261 85476 C9IZ01;C9JA25;E5KND5;F8WAU4;H7C5M4;Q96RP9;Q9H9M0 ABBA01058813;AC025033;AC080013;AF309777;AF367998;AK000780;AK022724;AK023694;AK092293;AK315031;AMYH02008000;BC049210;CH471052;HQ205226;HQ205227;HQ205229;HQ205230;HQ205231;HQ205234;HQ205237;HQ205238;HQ205240;HQ205241;HQ205243;HQ205244;HQ205245;HQ205247;HQ205248;HQ205249;HQ205251;HQ205252;HQ205255;HQ205258;HQ205261;HQ205262;HQ205263;HQ205264;HQ205265;NG_008441;NM_024996;XM_006713795 AAH49210;AAK53402;AAK58877;ADP90694;ADP90695;ADP90697;ADP90698;ADP90699;ADP90702;ADP90705;ADP90706;ADP90708;ADP90709;ADP90711;ADP90712;ADP90713;ADP90715;ADP90716;ADP90717;ADP90719;ADP90720;ADP90723;ADP90726;ADP90729;ADP90730;ADP90731;ADP90732;ADP90733;BAB14205;BAG37516;BAG52523;EAW78677;EAW78678;EAW78679;EAW78680;EAW78681;EAW78682;NP_079272;Q96RP9;XP_006713858 Hs.518355 1688287;1698760;1699484;2124389;2136182;5021872;5022578;5037552 D1S1423;D8S2279;RH102943;RH103335;RH70156;RH80464;STS-N90141;sY3084 COXPD1;EF-Gmt;EFG;EFG1;EFGM;EGF1;FLJ12662;FLJ13632;FLJ20773;GFM;hEFG1;mEF-G 1 EF-Gmt {ECO:0000255|HAMAP-Rule:MF_03061};G translation elongation factor, mitochondrial;GFM1 {ECO:0000255|HAMAP-Rule:MF_03061};OTTHUMP00000213511;OTTHUMP00000213512;OTTHUMP00000213514;elongation factor G 1, mitochondrial;elongation factor G 1, mitochondrial {ECO:0000255|HAMAP-Rule:MF_03061};elongation factor G, mitochondrial;elongation factor G, mitochondrial {ECO:0000255|HAMAP-Rule:MF_03061};elongation factor G1;elongation factor G1 {ECO:0000255|HAMAP-Rule:MF_03061};mEF-G 1 {ECO:0000255|HAMAP-Rule:MF_03061};mitochondrial elongation factor G;mitochondrial elongation factor G1 APPROVED protein-coding ENSG00000168827 HGNC:13780 07365 606639;609060 REVIEWED 6481371 GFOD1-AS1 GFOD1 antisense RNA 1 100874025 AL583828 APPROVED ncrna HGNC:40956 1604583 GFOD2 glucose-fructose oxidoreductase domain containing 2 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN extracellular matrix organization (inferred); oxidation-reduction process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN proteinaceous extracellular matrix (inferred); INTERACTS WITH 17beta-estradiol; atrazine; cadmium dichloride 16 16 16 q22.1 52216926 52261762 - 67708436 67753273 - 67674533 67719370 - 6480464;8554872 12477932;12975309;14702039;15489334;17081983;20864672;21906983;22505724;24064143;24250222;8125298 81577 Q3B7J2 ABBA01025451;ABBA01025452;ABBA01025453;ABBA01025454;ABBA01025455;AC010530;AK074382;AK091606;AK096635;AK225997;AK307280;AL832904;AMYH02032239;AMYH02032240;AY358169;BC000757;BC002943;BC107585;BI826603;BQ003788;BQ437486;CH471092;DC368734;DC381447;NM_001243650;NM_030819;NR_027398;XM_006721288 AAH00757;AAH02943;AAI07586;AAQ88536;BAB85066;BAG52390;CAH10637;EAW83166;NP_001230579;NP_110446;Q3B7J2;XP_006721351 Hs.307084 1653265;1698742;1729796;2128343;5015404;5015861;5015961;5037552;7185938 D10S16;D15S1477;D16S322;D8S2279;L17705;RH102934;RH48080;SHGC-60687 FLJ23802;FLJ39316;MGC11335 OTTHUMP00000174841;glucose-fructose oxidoreductase domain-containing protein 2 protein-coding ENSG00000141098 HGNC:28159 14419 VALIDATED 1323002 GFOD1 glucose-fructose oxidoreductase domain containing 1 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; amiodarone; benzo[a]pyrene 6 6 6 pter-p22.1 14596764 14720992 - 13363587 13487869 - 13363355 13487637 - 1580863;6480464;8554872 11181995;12477932;14574404;14702039;15342556;15489334;16344560;18821565;19322201;20379614;24255178 54438 Q9NXC2;S4R302 ABBA01022125;ABBA01022126;AF264036;AK000337;AK027010;AK055131;AL583828;AL589984;AL591969;AMYH02013130;AMYH02013131;AMYH02013132;AW137218;BC009205;BC066553;BC119005;BC124557;BC148295;BP283322;CH471087;DA433106;DB153908;NM_001242628;NM_001242629;NM_001242630;NM_018988;NR_038459 AAH66553;AAI19006;AAI24558;AAI48296;AAK58533;BAA91093;BAB15624;EAW55329;EAW55330;EAW55331;NP_001229557;NP_001229558;NP_001229559;NP_061861;Q9NXC2 Hs.484686 1341916;1777771 D6S1593;STS-AA035729 ADG-90;C6orf114;FLJ20330;FLJ30569;MGC70653;RP11-501I19.1 OTTHUMP00000016049;OTTHUMP00000016050;OTTHUMP00000016051;glucose-fructose oxidoreductase domain-containing protein 1 protein-coding ENSG00000145990 HGNC:21096 13574 VALIDATED 1351553 GFPT2 glutamine-fructose-6-phosphate transaminase 2 ENCODES a protein that exhibits carbohydrate binding (inferred); glutamine-fructose-6-phosphate transaminase (isomerizing) activity (inferred); INVOLVED IN carbohydrate biosynthetic process (inferred); cellular protein metabolic process (inferred); dolichol-linked oligosaccharide biosynthetic process (inferred); PARTICIPATES IN alanine, aspartate and glutamate metabolic pathway; amino sugar metabolic pathway; nucleotide sugar metabolic pathway; ASSOCIATED WITH Diabetes Mellitus, Type 2; Diabetic Nephropathies; FOUND IN cytosol (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP 5 5 5 q34-q35 175353585 175406149 - 179727698 179780341 - 180300698 180353336 - 1580863;2307362;6480464;6907045;8554872 14764791 10198162;12477932;14702039;15489334;17081983;17542649;17574229;20353610;20881960;21044950;21145461;21897333;21906983;22505724;23314748;24778252;24816145 9945 D6RAC1;E5RJP4;O94808 AB016789;ABBA01010064;ABBA01010065;AC008610;AK001242;AK022507;AK297750;AK314551;AMYH02012904;BC000012;BT009818;CH471165;NM_005110;XM_006714942 AAH00012;AAP88820;ABM83102;ABM86297;BAA74731;BAG37137;BAG50875;BAG51080;BAG60100;EAW53755;EAW53756;NP_005101;O94808;XP_006715005 Hs.696497 1758327;1758419;1763057;1777534;2217364 GEPT2_3752;RH78425;SHGC-146797;SHGC-148059;SHGC-148282 FLJ10380;GFAT 2;GFAT2 D-fructose-6-phosphate amidotransferase 2;OTTHUMP00000223940;glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 2;glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2;glutamine: fructose-6-phosphate aminotransferase 2;glutamine:fructose 6 phosphate amidotransferase 2;glutamine:fructose-6-phosphate amidotransferase 2;hexosephosphate aminotransferase 2 protein-coding ENSG00000131459 HGNC:4242 04842 603865 PROVISIONAL 733642 GFI1 growth factor independent 1 transcription repressor This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p22 91193179 91205211 - 92940318 92952433 - 92474761 92486876 - 704404;1580863;6480464;7240710;8554872;8699517 10737800;11060035;12351384;12477932;12778173;12874834;14702039;15131254;15489334;15947108;16287849;16319680;16344560;16713569;16716599;16888099;17197705;17207994;17213822;17244686;17636019;17646546;17707228;17909014;18371060;18701459;18805794;19026687;19164764;19506020;19887785;20075157;20087403;20547752;20571393;20723283;20723286;21570500;22042697;22932805;23466061;23528269;24018353;24023884;24198842;25043047;7789186;8441411;8754800;9051000 2672 B3KVN4;Q99684 AB209606;ABBA01045542;ABBA01045543;ABBA01045544;AC104456;AK123009;AK313876;AMYH02001481;AMYH02001482;BC032751;BC074866;BC074867;BE242676;BM150826;BQ336135;CH471097;DA927584;DB129173;DB137690;JC009138;NG_007874;NM_001127215;NM_001127216;NM_005263;U67369;XM_005270749 AAB37272;AAH32751;AAH74866;AAH74867;ABM82199;ABM85387;BAD92843;BAG53846;CDL93503;EAW73092;EAW73093;EAW73094;NP_001120687;NP_001120688;NP_005254;Q99684;XP_005270806 Hs.73172 1795914;2113208;2113210 D1S3707E;D1S3708E;GFI1_442 FLJ94509;GFI-1;GFI1A;SCN2;ZNF163 OTTHUMP00000012582;OTTHUMP00000012583;growth factor independence-1;growth factor independent protein 1;zinc finger protein 163;zinc finger protein Gfi-1 APPROVED protein-coding ENSG00000162676 HGNC:4237 07527 600871;607847;613107 REVIEWED 731370 GFRA3 GDNF family receptor alpha 3 The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. [provided by RefSeq, Jul 2008] 5 5 5 q31.1-q31.3 133709300 133731054 - 137588069 137610544 - 138252380 138274564 - 1580863;704404;6218977;6480464 10852218 10978357;11360200;12477932;12490080;12624147;12975309;15340161;15489334;16765900;16773224;18029348;19304517;20116071;22031517;22610502;23351331;7829101;9407096;9490034;9576965;9883723 2676 O60609 ABBA01068688;AC106752;AF051767;AF086292;AK297693;AK314022;AMYH02012287;AMYH02012288;AMYH02012289;AW020606;AY358997;AY359037;BC037951;CH471062;CS487680;FJ200487;NM_001496 AAC24355;AAH37951;AAQ89356;AAQ89396;ABM81776;ABM84930;ACO54884;BAG36733;BAG60051;CAM55952;EAW62152;EAW62153;NP_001487;O60609 Hs.58042 1678923;2110421 GFRA3_3327;RH99221 GDNFR3 GDNF family receptor alpha-3;GDNF receptor alpha-3;GDNFR-alpha-3;GFR-alpha-3;GPI-linked receptor;OTTHUMP00000159486;OTTHUMP00000224020;gdnf-family receptor alpha 3;glial cell line-derived neurotrophic factor receptor alpha-3 APPROVED protein-coding ENSG00000146013 HGNC:4245 10420 605710 REVIEWED 733164 GFRA1 GDNF family receptor alpha 1 Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Feb 2009] 10 10 10 q26.11 111545807 111762346 - 117816436 118033126 - 116056925 116273614 - 1580863;6218962;6218983;6218967;6218963;6218974;6218970;6218972;6218981;6218984;6218979;6480464;6218969;8554872 10407114;10407179;11476594;12210101;15144875;16464682;17507417;20533358;21865882;9582449;9853108 10774729;10821644;10829012;11182089;11360200;11932334;12065680;12477932;12490080;12624147;12837245;14514671;14566559;14702039;14759258;15310755;15489334;16175604;16344560;16385451;16551639;16644101;16813162;17298301;17825269;18089803;18353777;18394855;18845535;19019765;19056867;19188437;19282698;19896648;20116071;20347960;20350599;20379614;20424473;20669561;21133924;21988832;22729463;23333304;23351331;23382691;23793025;23824909;23881409;24778213;7829101;8657309;8674117;8889548;9108413;9177201;9182803;9192898;9407096;9465905;9482105;9545641;9600247;9697851;9740802 2674 B7Z856;P56159 ABBA01062960;ABBA01062961;ABBA01062962;ABBA01062963;AC012470;AC073588;AF038420;AF038421;AF042080;AF058999;AK001423;AK056108;AK292886;AK302914;AL832661;AMYH02023865;AMYH02023866;AMYH02023867;AMYH02023868;AW021438;BC014962;BM675677;BU935138;BX648964;CH471066;CS417511;CS487670;DA742495;KF510330;NM_001145453;NM_005264;NM_145793;U95847;U97144;XM_005269696 AAB71811;AAB97371;AAC14431;AAC39692;AAC39693;AAC51646;AAH14962;ABM83136;ABM86332;BAF85575;BAH13842;CAL48763;CAM55947;EAW49456;EAW49457;EAW49458;NP_001138925;NP_005255;NP_665736;P56159;XP_005269753 Hs.388347 1334832;1647364;1669234;1683164;1718733;1720289;1754669;1772920;1773269;1854948;1854950;2113098;2143885;2144047;2157007;2167221;2190353;2190355;2190357 AFMA338XB5;D10S0108;D10S0404;D10S0499;D10S1330E;D10S1471;D10S1748;D10S2181;D10S2383;D10S2458;G31142;RH123055;RH123893;RH44743;RH46367;RH92804;SHGC-133025;SHGC-60298;WI-11643 DKFZp313E1012;DKFZp686J0156;FLJ10561;FLJ31546;GDNFR;GDNFRA;GFR-ALPHA-1;MGC23045;RET1L;RETL1;TRNR1 GDNF family receptor alpha-1;GDNF receptor alpha-1;GDNFR-alpha-1;GPI-linked anchor protein;Glial cell line-derived neurotrophic factor receptor alpha;OTTHUMP00000020558;OTTHUMP00000020559;OTTHUMP00000020560;PI-linked cell-surface accessory protein;RET ligand 1;TGF-beta related neurotrophic factor receptor 1;TGF-beta-related neurotrophic factor receptor 1;glial cell line derived neurotrophic factor family receptor alpha 1 APPROVED protein-coding ENSG00000151892 HGNC:4243 03291 601496 REVIEWED 1323334 GFI1B growth factor independent 1B transcription repressor This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] 9 9 9 q34.13 106395838 106408823 + 135820888 135867084 + 132978411 132991697 + 1580863;6480464;8699517;8554872;7240710 12351384;12477932;12874834;15280509;15507521;15920471;16177182;16688220;16713569;17272506;17420275;17707228;19360458;19522008;19773260;19965638;20124515;20143233;21048031;22399799;23788109;23927492;24325358;24395799;24635673;25043047;9566867;9878267 8328 Q5VTD9 ABBA01032476;ABBA01032477;AF081946;AI097490;AL445645;AL593851;AMYH02021820;AY428733;BC035626;BC043371;BC048254;BX113435;CH471090;CR536546;JC009160;NG_034227;NM_001135031;NM_004188;XM_006717297;XM_006717298 AAD08672;AAH43371;AAR06639;CAG38783;CDL93510;EAW88023;EAW88024;EAW88025;NP_001128503;NP_004179;Q5VTD9;XP_006717360;XP_006717361 Hs.553160 1847784;2185567;5121012 D9S1140;RH46545;STS-T56858 BDPLT17 OTTHUMP00000022443;OTTHUMP00000022444;OTTHUMP00000235527;growth factor independent 1B (potential regulator of CDKN1A, translocated in CML);growth factor independent protein 1B;potential regulator of CDKN1A translocated in CML;zinc finger protein Gfi-1b protein-coding ENSG00000165702 HGNC:4238 05088 187900;604383 REVIEWED 1343287 GFRA4 GDNF family receptor alpha 4 The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p13-p12 3701823 3705927 - 3639939 3644046 - 3659292 3663399 - 727298;1580863;6480464 10958791 11116144;11551746;11780052;12624147;15225646;9740802 64096 Q9GZZ7 ABBA01053826;AF253318;AJ291673;AJ291674;AJ291675;AL356755;AMYH02036599;CH471133;NM_022139;NM_145762;XM_005260793 AAG25925;AAI72271;AAI72567;CAC19690;CAC19691;CAC19692;EAX10527;EAX10528;EAX10529;NP_071422;NP_665705;Q9GZZ7;XP_005260850 Hs.302025 GDNF family receptor alpha-4;GDNF receptor alpha-4;GDNFR-alpha-4;GFR receptor alpha 4;GFR-alpha-4;OTTHUMP00000030106;OTTHUMP00000030107;persephin receptor APPROVED protein-coding ENSG00000125861 HGNC:13821 11003 REVIEWED 1604590 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010] 11 11 11 q13.4-q13.5 72453433 72544371 - 75145683 75236991 - 75434638 75525554 - 6480464;8554872 12477932;12975309;14702039;15489334;15498874;16195461;16303743;17275818;17578682;18667693;22279038 81544 E9PJU5;H0YEF5;Q8NDN3;Q8WTR4 ABBA01017463;ABBA01017464;ABBA01017465;AF217989;AF289614;AF318351;AF318377;AF451987;AK074848;AK091658;AK098808;AK310490;AL833941;AMYH02025118;AMYH02025119;AP002815;AY358477;BC018771;BC020203;BC029416;BC033391;BC090053;CH471076;NM_030792;XM_006718694;XM_006718695;XM_006718696;XM_006718697 AAG17232;AAH18771;AAH20203;AAH29416;AAH33391;AAL55798;AAL55858;AAL55884;AAP97686;AAQ88841;ABM83369;ABW03322;BAC05418;BAC11242;CAD38796;EAW74967;EAW74968;EAW74969;EAW74970;EAW74971;EAW74972;NP_110419;Q8WTR4;XP_006718757;XP_006718758;XP_006718759;XP_006718760 Hs.503297 1336294;1340459;1341047;1659099;1678855;1713769;1738229;1774421;2113974;2125445;2131089 A002S07;AB046041;AFMa135xf9;D11S1030;D11S1291;D11S1902;D11S3866;D11S4081;D11S534;NIB1729;RH120771 GDE2;PP1665 OTTHUMP00000229938;OTTHUMP00000229939;OTTHUMP00000229940;glycerophosphodiester phosphodiesterase 2;glycerophosphodiester phosphodiesterase domain-containing protein 5 APPROVED protein-coding ENSG00000158555 HGNC:28804 15159 609632 VALIDATED 7818825 GFY golgi-associated, olfactory signaling regulator INVOLVED IN sensory perception of smell (ortholog); FOUND IN integral component of Golgi membrane (ortholog); INTERACTS WITH (+)-catechin 19 19 19 q13.33 46797308 46799695 + 49929688 49932075 + 49426431 49428818 + 15057824;23926254 100507003 I3L273 ABBA01032929;AC010619;AMYH02036317;DN930573;NM_001195256 I3L273;NP_001182185 Hs.553831 Golgi protein in olfactory neurons;Goofy;golgi-associated olfactory signaling regulator protein-coding ENSG00000261949 HGNC:44663 PROVISIONAL 732295 GFRA2 GDNF family receptor alpha 2 Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 8 8 8 p21.3 20513992 20608606 - 21549530 21672392 - 21692018 21814898 - 61606;1580863;704404;6218972;6218970;6480464 12210101;15144875;9177201 10774729;10829012;11409869;12477932;12490080;12624147;15489334;15717329;17522305;17825269;18521090;19573479;19860791;20116071;20369355;20800603;21116278;21723942;23793025;23881409;24067900;9182803;9192898;9259272;9407096 2675 E5RGR6;E5RJ44;J3KNF0;O00451 ABBA01005493;ABBA01005494;ABBA01005495;ABBA01021522;ABBA01021523;ABBA01021524;ABBA01021525;ABBA01021526;ABBA01021527;ABBA01021528;AC105186;AC129925;AF002700;AK299623;AMYH02017584;AMYH02017585;AMYH02017586;AP008236;AY326396;AY941828;BC041688;CH471080;CS487672;KC877225;NG_029215;NM_001165038;NM_001165039;NM_001495;U93703;U97145;XM_005273472;XM_005273473;XM_005273474;XM_005273475;XM_006716326;XM_006716327 AAB61922;AAC51647;AAC52036;AAH41688;AAP88378;AAX46325;ADZ15613;BAG61551;CAM55948;EAW63742;NP_001158510;NP_001158511;NP_001486;O00451;XP_005273529;XP_005273530;XP_005273531;XP_005273532;XP_006716389;XP_006716390 Hs.441202 1338538;1786780;1786782;2116460;2126843;2146727;2153701;7187487 A003B30;D8S1417E;D8S560;SHGC-155724;SHGC-155725;SHGC-31819;WI-19670 GDNFRB;NRTNR-ALPHA;NTNRA;RETL2;TRNR2 GDNF family receptor alpha-2;GDNF receptor alpha-2;GDNF receptor beta;GDNFR-alpha-2;GDNFR-beta;GFR-alpha 2;GFR-alpha-2;NTNR-alpha;OTTHUMP00000225304;OTTHUMP00000225305;OTTHUMP00000225355;OTTHUMP00000225356;PI-linked cell-surface accessory protein;RET ligand 2;TGF-beta related neurotrophic factor receptor 2;TGF-beta-related neurotrophic factor receptor 2;TRN receptor, GPI-anchored;glial cell line derived neurotrophic factor family receptor alpha 2;glial cell line derived neurotrophic factor receptor, beta;neurturin receptor alpha APPROVED protein-coding HGNC:4244 11801 601956 REVIEWED 1353383 GFPT1 glutamine--fructose-6-phosphate transaminase 1 This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008] 2 2 2 p13 69396783 69495538 - 69546901 69614386 - 69319769 69387254 - 1625423;1624365;1625539;1580863;2313352;2313353;2313356;6480464;6907045;8699517;7240710;8554872 11118009;15466941;16555472;17574229;19190104;9519709 10198162;10806197;10997685;11587069;11679416;12477932;12802498;1460020;14988277;15308130;15489334;15595739;15613432;15878746;16341674;16344560;16964243;17024311;17081983;17542649;17941647;18781797;19059404;19170765;19322201;20301347;2037571;20562859;20845477;21139048;21310273;21890473;21906983;21988832;22053931;22505724;22586326;22863883;22987706;23000965;23569079;23794683;24075873;24250222;24654937;24778252;24816145;25027693;7601477;7607664;8144040;8619474;9110174 2673 Q06210;Q8WYR5 ABBA01075496;ABBA01075497;ABBA01075498;ABBA01075499;AC114772;AF131846;AF334737;AF445027;AMYH02004018;AMYH02004019;AW079566;BC045641;BG723175;BI560595;BM744371;CH471053;DB133199;M90516;NG_029542;NM_001244710;NM_002056 AAA58502;AAH45641;AAK15342;AAL38588;AAY14827;EAW99851;EAW99852;EAW99853;NP_001231639;NP_002047;Q06210 Hs.580300 1654469;1682810;1688227;1721035;1850561;2132071;2132518;2135122;2218778;5037552 D8S2279;G59499;GFPT1_3984;RH17749;RH79097;RH94297;RH99057;SHGC-31513;SHGC-57784;WI-13967 CMSTA1;GFA;GFAT;GFAT 1;GFAT1;GFAT1m;GFPT;GFPT1L;MSLG D-fructose-6-phosphate amidotransferase 1;OTTHUMP00000202179;glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1;glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1;glutamine-fructose-6-phosphate transaminase 1;glutamine: fructose-6-phosphate amidotransferase-1;glutamine:fructose 6 phosphate amidotransferase 1;glutamine:fructose-6-phosphate amidotransferase 1;hexosephosphate aminotransferase 1 APPROVED protein-coding ENSG00000198380 HGNC:4241 00702 138292;610542 REVIEWED 1604920 GFRAL GDNF family receptor alpha like INVOLVED IN negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (inferred); negative regulation of neuron apoptotic process (inferred); stress-activated protein kinase signaling cascade (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 p12.1 56853801 56928807 + 55192267 55267291 + 55327469 55402493 + 6480464;8554872 12975309;14574404;16086688 389400 Q6UXV0 ABBA01050507;AL592426;AMYH02013767;AMYH02013768;AY358198;CH471081;NM_207410 AAQ88565;EAX04441;NP_997293;Q6UXV0 Hs.526967 1336544;1667424;1762371;2110793;5022578 D1S1423;D6S1636;G17074;SHGC-146200;UNQ9356__5024 C6orf144;GRAL;UNQ9356;bA360D14.1 GDNF family receptor alpha-like;IVFI9356;OTTHUMP00000016646 protein-coding ENSG00000187871 HGNC:32789 15622 VALIDATED 1312455 GGA2 golgi-associated, gamma adaptin ear containing, ARF binding protein 2 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008] 16 16 16 p12 22252142 22299089 - 23474863 23521815 - 23462225 23510494 - 1580863;6480464 10470851;10493829;10702286;10747088;10747089;10749927;10814529;11301005;11331584;11387475;11387476;11390366;11821067;11859375;11886874;11950392;12135764;12213833;12429846;12477932;12505986;12606052;12808037;14567678;14636058;14638859;14665628;14702039;15039775;15039776;15047686;15146197;15345724;15489334;15615712;16189514;16344560;16473621;16996030;17344219;17451558;17494868;17596511;18431031;18439901;18638397;19019082;19478182;19788741;20012524;21139048;21832049;21890473;22291915;22939629;23275563;23383273;24407285;24816145;8889548 23062 H3BMM6;H3BMN6;H3BPF4;H3BPI3;I3L263;I3L2C4;Q9UJY4 AB029003;ABBA01017060;ABBA01017061;ABBA01017062;ABBA01017063;ABBA01163463;AC002400;AC008915;AF165531;AF190863;AF233522;AF323754;AK024619;AK026350;AK093769;AK308425;AMYH02031701;AMYH02031702;BC000284;BC050620;BU689580;BU855556;CH471145;CN423115;DA439738;NM_015044;XR_429674 AAC05813;AAF05708;AAF35394;AAF42806;AAH00284;AAK38634;ABM83460;ABM86671;BAA83032;EAW55827;EAW55828;EAW55829;NP_055859;Q9UJY4 Hs.460336 1664893;1678557;1686510;1691134;1775270;2114639;2114641;2120229;2129338;2185420;5015861;5022651;5037552;5109281;5113192;7185938 A004H39;D10S16;D11S2921;D16S3346;D16S3347;D1S1425;D8S2279;RH68368;RH75001;RH80401;RH93428;SHGC-2574;SHGC-33867;SHGC-60760;SHGC-64029 FLJ20966;KIAA1080;VEAR ADP-ribosylation factor-binding protein GGA2;OTTHUMP00000122425;VHS domain and ear domain of gamma-adaptin;VHS domain and ear domain-containing protein;gamma-adaptin-related protein 2;golgi associated, gamma adaptin ear containing, ARF binding protein 2;golgi-localized, gamma ear-containing, ARF-binding protein 2 APPROVED protein-coding ENSG00000103365 HGNC:16064 09347 606005 REVIEWED 735324 GGH gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008] 8 8 8 q12.3 59917838 59941813 - 63927638 63951610 - 63015079 63039051 - 69845;1300048;1580863;6480464;6907045;7242559 16859665;8621474 10570974;10598552;11005824;11953431;12477932;12643545;15489334;15492986;16141796;16875718;16945597;17009228;17081065;1713122;17286537;17409534;18414409;18676680;18830263;18842806;18851872;19016697;19056867;19093297;19161160;19170196;19307503;19625176;19636555;19692168;19774638;19815704;19827168;19841321;19858780;20037791;20197200;20453000;20651609;21139048;21145461;21538980;21674799;21890473;21906983;22018726;22268729;22568793;22649255;22678806;22763757;22863883;22939629;22990118;22994778;23000965;23107767;23374458;24447348;2867095;3759978;8816764;9614206 8836 Q92820 ABBA01041833;AC120042;AF147082;AK290450;AK301094;AMYH02018069;BC025025;CH471068;NG_028126;NM_003878;U55206 AAC05579;AAF03360;AAH25025;ADZ15860;BAF83139;BAG62694;EAW86862;NP_003869;Q92820 Hs.78619 1697744;2183845 RH102394;SHGC-36870 GH OTTHUMP00000226541;conjugase;folylpolygammaglutamyl hydrolase;gamma-Glu-X carboxypeptidase;gamma-glutamyl hydrolase APPROVED protein-coding ENSG00000137563 HGNC:4248 03299 601509 REVIEWED 2299985 GGACT gamma-glutamylamine cyclotransferase The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The reaction catalyzed by the encoded gamma-glutamylaminecyclotransferase produces 5-oxo-L-proline and a free alkylamine. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Aug 2010] 13 13 13 q32.3 82026987 82085620 - 101182418 101241046 - 100530164 100588792 - 6480464;8554872 12477932;14702039;16344560;20110353 87769 M0R0M3;M0R217;Q9BVM4 ABBA01027088;AK091974;AK093228;AK095850;AL136526;AL356966;AMYH02028610;BC001077;BC004360;CH471085;DA628207;NM_001195087;NM_033110;XM_005254083 AAH01077;AAH04360;BAG53143;EAX09037;NP_001182016;NP_149101;Q9BVM4;XP_005254140 Hs.350868 1855513 SHGC-12499 A2LD1 AIG2-like domain 1;AIG2-like domain-containing protein 1;OTTHUMP00000018653;gamma-glutamylaminecyclotransferase APPROVED protein-coding ENSG00000134864 HGNC:25100 613378 REVIEWED 1642110 GGNBP1 gametogenetin binding protein 1 (pseudogene) This gene is the ortholog of the mouse gametogenetin-binding protein 1 gene. In human, the open reading frame is disrupted by a nonsense mutation after 8-aa; consequently, this gene is currently considered to be a unitary pseudogene in human even though it is functional in other mammals. [provided by RefSeq, Aug 2009] 6 6 6 p21 35105855 35111182 + 33551476 33556803 + 33583699 33589026 + 6480464 15625700;15642376;15892049;19913121;20628086 449520 Q5YKI7 ABBA01038158;AMYH02013493;AY383626;AY383627;CH471081;NR_028361;Z93017 AAR26430;AAR26431;EAX03743;Q5YKI7 Hs.582973 1339434;7186216 D6S1560 APPROVED pseudo ENSG00000204188 HGNC:19427 609495 REVIEWED 68554 GGCX gamma-glutamyl carboxylase This gene encodes an enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis. Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008] 2 2 2 p12 85604381 85616845 - 85771978 85788657 - 85544855 85561534 - 704404;1598791;1580863;6480464;7240710;8554872;8699517 9845520 10393081;10556651;10910912;10934213;11071668;11087858;11133752;11570873;11580082;11591726;12034728;12475254;12477932;12963724;12968027;14567538;14660587;14702039;1498334;15287948;15365175;15489334;15815621;15883587;15900282;16676068;16979907;17029979;17048007;17049586;17144668;17189218;1749935;17764537;17786385;18079608;18234294;18498174;18680736;18800149;19116367;19233910;19383345;19436136;19652895;19794411;19821094;19913121;19942260;19958090;20020283;20149073;20193673;20213530;20332604;20628086;20694283;20716240;20716530;20811787;21057703;21344298;2145029;21475774;21704322;21743467;21800014;21890473;21963094;21987572;22188360;22268729;23000965;23817635;23941071;24148610;24231026;24778252;3944102;7759116;8125298;8647260;8702425;8889548;9166845;9538022 2677 F8WB98;F8WCF0;F8WDU9;P38435 ABBA01075757;AC016753;AF253530;AK054569;AK130139;AK222827;AK225663;AK297397;AK298982;AK310483;AK313126;AMYH02004184;BC004422;BC013979;BM974022;CH471053;DC296316;EU847509;KF459579;L17128;M81592;NG_011811;NM_000821;NM_001142269;U65896;XM_005264259 AAA58643;AAA91834;AAB39832;AAF64245;AAH13979;AAY24340;ABM83874;ABM87195;ACF70731;BAD96547;BAG35946;BAG59837;BAG61076;EAW99509;EAW99510;NP_000812;NP_001135741;P38435;XP_005264316 Hs.77719 1670472;1676404;1734240;1744977;2148382;2170536;2183618;5014051;5016478;5022578;5037552 D1S1423;D2S1496E;D3S3930;D8S2278;D8S2279;G28262;GDB:434012;GDB:592480;RH47212;RH75358;WI-17445 FLJ26629;VKCFD1 OTTHUMP00000160676;OTTHUMP00000203090;peptidyl-glutamate 4-carboxylase;vitamin K gamma glutamyl carboxylase;vitamin K-dependent gamma-carboxylase APPROVED protein-coding ENSG00000115486 HGNC:4247 00665 137167;277450;610842 REVIEWED 1319955 GGA3 golgi-associated, gamma adaptin ear containing, ARF binding protein 3 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010] 17 17 17 q25.1 69825023 69850791 - 73232694 73258444 - 75236599 75262363 - 1580863;6480464;6484113 10747088;10747089;10749927;10814529;11301005;11387475;11390366;11859375;11950392;12032548;12060753;12213833;12215646;12221117;12477932;12505986;12810073;12858162;14567678;14638859;14660606;14665628;14702039;15039775;15039776;15047686;15143060;15231748;15345724;15489334;15494413;15615712;15701688;15966896;16135791;16473621;16497223;16977309;16996030;17116753;17494868;17553422;18162163;18199687;18418388;18439901;18638397;19788741;19815556;20012524;20150893;20484053;20848231;21139048;21440067;21517092;21664574;21890473;21906983;21963094;22053931;22505724;22836275;23000965;23970038;24407285;8590280;8889548 23163 A8K6I6;A8K6M0;B7Z1E9;B7Z456;G3V1K5;J3KS27;J3KSG3;J3KSS7;J3KTR5;J3QRK7;J3QRP3;J3QRS8;J3QS87;Q9NZ52 ABBA01028806;ABBA01028807;ABBA01028808;ABBA01028809;AC022211;AEKP01093165;AF190864;AF219138;AF219139;AK124541;AK291651;AK291685;AK293291;AK296843;AK301895;AK302278;AK302423;AK304692;AL833603;AMYH02033988;BC051732;BC063285;BC070044;BM981305;CB240770;CH471099;D63876;DA312660;HY030361;NM_001172703;NM_001172704;NM_001291641;NM_001291642;NM_014001;NM_138619;NR_033345;XM_006721784;XM_006721785;XR_429878 AAF05709;AAF42848;AAF42849;AAH70044;BAA09926;BAF84340;BAF84374;BAH11485;BAH12442;BAH13578;BAH13665;BAH13705;BAH14238;EAW89252;EAW89253;EAW89254;EAW89255;EAW89256;EAW89257;EAW89258;EAW89259;EAW89260;NP_001166174;NP_001166175;NP_001278570;NP_001278571;NP_054720;NP_619525;Q9NZ52;XP_006721847;XP_006721848 Hs.87726 1677913;1689368;1729181 RH25373;RH98808;UniSTS:146574 KIAA0154 ADP-ribosylation factor-binding protein GGA3;Golgi-localized, gamma ear-containing, ARF-binding protein 3;golgi associated, gamma adaptin ear containing, ARF binding protein 3 APPROVED protein-coding ENSG00000125447 HGNC:17079 10443 606006 REVIEWED 1312569 GGCT gamma-glutamylcyclotransferase The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 7 7 7 p15-p14 30525436 30533653 - 30536237 30544457 - 30496621 30504841 - 6480464;6907045 12477932;12690205;14702039;15489334;16765912;17207965;17932939;18515354;19056867;19423540;20110353;20406964;20438785;20527979;21136669;21139048;21508379;21832049;21883928;21890473;21906983;21963094;22205682;23513927;23853312;24163370;24342434 79017 B8ZZK2;H7BZK5;M0QZK8;O75223 AACC02000087;ABBA01056813;AC005154;AK021779;AK315608;AMYH02015460;BC000625;BC005356;BC013937;BC019243;BE407390;BE885397;BG527593;CH471073;NM_001199815;NM_001199816;NM_001199817;NM_024051;NR_037669 AAH00625;AAH05356;AAH13937;AAH19243;ADQ33188;BAG37977;BAG51049;EAL24452;EAW93950;EAW93951;EAW93952;EAW93953;NP_001186744;NP_001186745;NP_001186746;NP_076956;O75223 Hs.530024 1695040;1696870;1740199;2123893;2125325;2179145;5015879;5118444 D11S3316;D7S2241;D7S2404;G44750;G49180;GDB:314949;RH48212;RH69806 C7orf24;CRF21;FLJ11717;GCTG;Ggc;MGC3077 OTTHUMP00000158746;OTTHUMP00000202471;OTTHUMP00000202473;OTTHUMP00000202475;cytochrome c-releasing factor 21;gamma -glutamyl cyclotransferase APPROVED protein-coding ENSG00000006625 HGNC:21705 12912 137170 REVIEWED 1350985 GGT3P gamma-glutamyltransferase 3 pseudogene ENCODES a protein that exhibits gamma-glutamyltransferase activity (inferred); glutathione hydrolase activity (inferred); INVOLVED IN leukotriene biosynthetic process (ortholog); FOUND IN extracellular vesicular exosome 22 22 22 q11.21 8573 26744 + 18761202 18779474 - 18773689 18791961 - 10737800;12477932;14715246;18357469;2573352;8104871 2679 A6NGU5 ABBA01017182;AC008132;AMYH02038030;BC108264;BC143607;NR_003267;XR_426489 A6NGU5 Hs.595809 5021298;5119957;5123354;5124792;5127483 D22S732;GDB:190922;J05235;RH69116;RH79893 GGT3 gamma-glutamyltransferase 3 pseudo ENSG00000197421 HGNC:4252 VALIDATED 1343556 GGNBP2 gametogenetin binding protein 2 INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); spermatogenesis (inferred); FOUND IN cytoplasmic vesicle (inferred); nucleus (inferred); INTERACTS WITH atrazine; cobalt dichloride; valproic acid 17 17 17 q12 31723010 31768554 + 34900737 34946278 + 36544888 36589848 + 1304483;1580863;6480464 11728448 12477932;14702039;15145523;15642376;16344560;21906983;22350815 79893 Q9H3C7 ABBA01012426;ABBA01012427;ABBA01012428;AC003042;AC126327;AC233698;AC243732;AF126964;AF268387;AJ404670;AK024883;AK026214;AK124053;AK124084;AK290687;AK292161;AK301614;BC137491;BG393068;CD557886;CH471199;DA494492;DC424145;NM_024835;XM_005257689;XM_005276909 AAG43247;AAI37492;AAK38614;BAB15031;BAB15397;BAF83376;BAF84850;BAG54002;BAG63099;CAC18878;EAW57566;EAW57567;NP_079111;Q9H3C7;XP_005257746;XP_005276966 Hs.514116 1665901;5022200 L18426;WI-16428 DIF-3;DIF3;FLJ21230;FLJ22561;FLJ42090;LCRG1;LZK1;ZFP403;ZNF403 C3HC4-type zinc finger protein;OTTHUMP00000164068;gametogenetin-binding protein 2;laryngeal carcinoma related gene 1;laryngeal carcinoma-related protein 1;zinc finger protein 403 protein-coding ENSG00000278311 HGNC:19357 18337 612275 VALIDATED 1353052 GGT2 gamma-glutamyltransferase 2 GGT2 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008] 22 22 q11.21 21562261 21594237 - 21207972 21228765 - 1580863;6480464 10591208;17976673;18071669;18297606;18342385;18357469;18421185;18486136;18656271;19012630;19214177;19670414;20622017;21375200;21986103;22269385;22749559;23138005;23682772;2573352;8104871 728441 B5MCK8;P36268 AMYH02038061;AP000550;M30474;XM_005261888;XM_005261890;XM_006724392;XM_006724393;XM_006724394;XM_006724395;XM_006724396;XM_006724397;XM_006726820 AAA52548;P36268;XP_005261945;XP_005261947;XP_006724455;XP_006724456;XP_006724457;XP_006724458;XP_006724459;XP_006724460;XP_006726883 Hs.568255 5021298;5119957;5123354;5124792;5127483 D22S732;GDB:190922;J05235;RH69116;RH79893 GGT;GGT 2 OTTHUMP00000197939;OTTHUMP00000198499;OTTHUMP00000198500;OTTHUMP00000198501;OTTHUMP00000198502;OTTHUMP00000198503;OTTHUMP00000198509;gamma-glutamyltranspeptidase 2;glutathione hydrolase 2;inactive gamma-glutamyltranspeptidase 2 APPROVED protein-coding ENSG00000133475 HGNC:4251 137181 MODEL 1317154 GGA1 golgi-associated, gamma adaptin ear containing, ARF binding protein 1 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q13.31 21806338 21831428 + 38004481 38029571 + 37608385 37633564 + 1580863;6480464;8554872 10591208;10747088;10747089;10749927;10814529;11124697;11301005;11387475;11390366;11792819;11821067;11859375;11859376;11950392;12060753;12135764;12221117;12477932;12505986;12538641;12578827;12636914;12668765;12679809;12767220;12808037;12858163;14567678;14636058;14638859;14660606;14665628;14690499;14702039;14973137;15039775;15044437;15047686;15117318;15143060;15231748;15345724;15457209;15461802;15466887;15489334;15615712;15775984;15886016;16303743;16344560;16407204;16473621;16996030;17005855;17052248;17151287;17344219;17494868;17506864;17596511;18418388;18439901;18638397;19285159;19327867;19788741;19946888;20012524;20015111;20676133;21139048;21841072;21890473;21906983;21963094;21988832;22004035;22505724;22621900;23000965;23383273;23824909;24407285;24816145;24866237;25015289;8125298 26088 B0QYR5;B0QYR6;B0QYR8;B0QYR9;B0QYS0;B0QYS1;B0QYS2;B0QYS3;B0QYS5;Q6IC75;Q9UJY5 ABBA01055477;ABBA01055478;AF190862;AF218584;AF233521;AK075256;AK092417;AK095427;AK097270;AK122898;AK225157;AK290548;AL035496;AL110219;AMYH02038338;BC000538;BC010917;BC029388;BC044629;CH471095;CQ783371;CR456493;DA455573;NM_001001560;NM_001001561;NM_001172687;NM_001172688;NM_013365;XM_005261517;XM_005261518;XM_005261520;XM_005261522;XM_006724228;XM_006724229;Z83844 AAF05707;AAF35393;AAF42847;AAH00538;AAH10917;AAH29388;AAH44629;BAC11501;BAF83237;BAG53054;BAG53788;CAB53679;CAF86574;CAG30379;CAK54521;CAK54820;EAW60168;EAW60169;EAW60170;NP_001001560;NP_001001561;NP_001166158;NP_001166159;NP_037497;Q9UJY5;XP_005261574;XP_005261575;XP_005261577;XP_005261579;XP_006724291;XP_006724292 Hs.499158 2178526;2178528;5022651 A002Q07;D11S2921;WI-11639 ADP-ribosylation factor binding protein 1;ADP-ribosylation factor-binding protein GGA1;OTTHUMP00000028975;OTTHUMP00000042200;OTTHUMP00000198162;OTTHUMP00000214014;gamma-adaptin related protein 1;gamma-adaptin-related protein 1;golgi associated, gamma adaptin ear containing, ARF binding protein 1;golgi-localized, gamma ear-containing, ARF-binding protein 1 APPROVED protein-coding ENSG00000100083 HGNC:17842 12078 606004 REVIEWED 735681 GGT1 gamma-glutamyltransferase 1 The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014] 22 22 22 q11.23 8779459 8824717 + 24979629 25024972 + 24583750 24629005 + 1300048;1601300;1580863;2315577;2315598;2315601;2315604;2315606;2315614;2315593;6480464;6907045;8554872 11311965;15890893;16772340;17095717;17888134;18291430;18937705;19936701 10392451;10591208;10756096;11940314;12030366;12144532;12447480;12477932;12480555;12532447;12721789;12835487;1378736;14754911;15052692;15084671;15461802;15489334;15528049;15528406;15694941;16386375;16502470;17109502;17141888;17260973;17503391;17601350;17652002;17698237;17895524;17924658;17965490;18037420;18197;18198;18242760;18357469;18441507;18464913;18483283;18486613;18708042;18715564;18940312;18977241;18987455;19034330;19057528;19148121;19463;1968061;19695568;1978610;19863187;19896490;20090360;20092819;20129611;20139978;20205615;20404051;20452593;20484958;20538960;20622017;20625912;20648472;20691173;20850749;20934730;20972737;21029002;21044991;21125972;21199427;21221836;21512179;21521327;21712391;21909109;22001757;22010049;22132177;22266633;22267845;22315051;22334565;22424154;22498419;22906265;23000601;23096761;23178147;23227248;23249638;23295001;23448276;23462328;23667618;23697277;24044563;24047895;24120856;24326630;24624459;24813308;2563599;2568315;2573352;2869484;2885259;28899;2896486;2898474;2900635;2901712;2904146;2907498;4442;6112969;7673200;7689219;7759490;7816801;7906515;8095045;8104826;8104871;8519693;8827453;8889548;9074928;9738450;9862348 2678 B5MC34;B5MC36;C9JGF3;C9JIY6;E7EM62;E7ENJ5;E7ERN9;E7ESL5;E7ET76;E7ETJ6;E7ETN1;E7ETR7;E7ETU4;E7EVF8;E9PHP2;P19440 ABBA01055141;ABBA01055142;ABBA01055143;AC000051;AJ006806;AJ006854;AJ007378;AJ007379;AJ007380;AJ007493;AJ230125;AL832738;AMYH02038144;AMYH02038145;AMYH02038146;AP000356;AU077341;BC025927;BC035341;BC065921;BC069326;BC069473;BC069504;BC128234;BC128238;BC128239;BM673976;BU157907;BU164348;CD625024;CR456494;DQ000492;HY003521;J04131;J05235;KF511433;L20490;L20493;L20494;M24087;M24903;NG_008111;NM_001288833;NM_013421;NM_013430;X60069 AAA02884;AAA02886;AAA02887;AAA35889;AAA35899;AAA52546;AAA52547;AAH25927;AAH65921;AAH69326;AAH69473;AAH69504;AAI28235;AAI28239;AAI28240;ABM84338;ABM86876;CAA07266;CAA07485;CAA07486;CAA07487;CAA07536;CAA42674;CAG30380;CAK54522;CAK54821;NP_001275762;NP_038265;NP_038347;P19440 Hs.595809;Hs.645535 5015961;5020414;5021298;5037552;5119957;5124792;5127483 D15S1477;D22S732;D8S2279;GDB:190922;J05235;L17688;RH79893 CD224;D22S672;D22S732;GGT;GGT 1;GTG;MGC96892;MGC96904;MGC96963 OTTHUMP00000028921;OTTHUMP00000159078;OTTHUMP00000197959;OTTHUMP00000197960;gamma glutamyl-transferase 1;gamma-glutamyl transpeptidase;gamma-glutamyltranspeptidase 1;glutamyl transpeptidase;glutathione hydrolase 1;leukotriene-C4 hydrolase APPROVED protein-coding ENSG00000100031 HGNC:4250 01980 612346 REVIEWED 2290504 GGT4P gamma-glutamyltransferase 4 pseudogene 13 18260350 18271424 - 18357469 643171 ABBA01048744;ABBA01048745;ABBA01048746;AL356585;NG_007580 pseudo HGNC:33207 INFERRED 1343459 GGPS1 geranylgeranyl diphosphate synthase 1 This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010] 1 1 1 q43 208734506 208750602 + 235491753 235507847 + 235328438 235344532 + 1580863;6480464;6907045 10026212;10101267;10931946;12446740;12477932;15489334;16698791;16710414;16806233;17207965;17536018;17646172;18726356;20191015;21139048;21224049;21321112;21890473;21906983;22505724;23478574;24816145;8419360;9741684 9453 C9J6G3;C9J7M1;O95749 AB016043;AB017971;AB019036;ABBA01033126;AF057698;AF125394;AI088775;AK025139;AK293278;AL391994;AMYH02002942;BC005252;BC067768;BI462253;BI520491;BI963107;CB216084;CH471098;DB473584;KF455168;NM_001037277;NR_036605 AAD43050;AAG45581;AAH05252;AAH67768;ADQ32621;BAA75909;BAA76511;BAA77251;BAH11480;EAW70016;EAW70017;EAW70018;EAW70019;EAW70020;NP_001032354;O95749 Hs.730768 1684449;2109345;2141362;5014051;5037552 D8S2278;D8S2279;GGPS1_8940;RH91999;SHGC-76562 GGPPS;GGPPS1 (2E,6E)-farnesyl diphosphate synthase;GGPP synthase;GGPPSase;OTTHUMP00000036073;OTTHUMP00000216161;OTTHUMP00000216162;OTTHUMP00000216163;OTTHUMP00000216164;dimethylallyltranstransferase;farnesyl diphosphate synthase;farnesyltranstransferase;geranylgeranyl pyrophosphate synthase;geranyltranstransferase APPROVED protein-coding ENSG00000152904 HGNC:4249 06099 606982 REVIEWED 1350501 GGTA1P glycoprotein, alpha-galactosyltransferase 1 pseudogene Alpha-1,3-galactosyltransferase (GGTA1) is an enzyme present in most mammals except man, apes, and Old World monkeys. This gene is a remnant of the GGTA1 gene and is a transcribed pseudogene. Aberrant expression of the GGTA1 protein in man can lead to autoimmune diseases and sometimes germ cell tumors. Two transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 9 q33.2 94865804 94910805 - 124217319 124262306 - 121455041 121500027 - 6480464 11773054;12477932;12499400;1559713;17194757;17213182;18357469;2108966 2681 Q4G0N0 ABBA01016231;ABBA01016232;ABBA01016233;AF305838;AF378121;AF378122;AF378123;AL359644;AMYH02021579;AMYH02021580;BC045756;DT220151;J05421;KF510322;NR_003191;NR_045211 AAL09374;Q4G0N0 Hs.97469 2164053;2180858;5125942 D9S1737;GGTA1;WI-15760 GGTA;GGTA1;GLYT2;MGC48635;a1/3GTP APPROVED pseudo ENSG00000204136 HGNC:4253 104175 REVIEWED 1603275 GGT6 gamma-glutamyltransferase 6 GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008] 17 17 17 p13.2 4472415 4476069 - 4460222 4463876 - 4556927 4560596 - 6480464;6907045;8554872 12477932;15342556;16303743;16344560;18357469;8889548 124975 B4DKN3;B4DPG6;I3L2G6;J3KPJ0;Q6P531;Q6ZPD7 AA661618;ABBA01054770;AC118754;AI284219;AK074646;AK129501;AK296645;AK298329;AK300648;AMYH02032822;BC063111;BM720407;BP276563;CH471108;CQ783528;CV571037;DA645854;DC345075;DC345192;NM_001122890;NM_001288702;NM_001288703;NM_001288704;NM_153338 AAH63111;BAC11110;BAC85168;BAG59245;BAG60578;BAG62336;CAF86704;EAW90432;EAW90433;EAW90434;NP_001116362;NP_001275631;NP_001275632;NP_001275633;NP_699169;Q6P531 Hs.130749 5015619;5037552 D11S3114;D8S2279 FLJ25990;FLJ90165;GGT 6 gamma-glutamyltransferase 6 homolog;gamma-glutamyltransferase 6 homolog (rat);gamma-glutamyltranspeptidase 6;glutathione hydrolase 6 APPROVED protein-coding ENSG00000167741 HGNC:26891 08293 612341 VALIDATED 1353216 GGTL1 gamma-glutamyltransferase-like 1 8104871 2684 HGNC:4257 1345457 GGTL2 gamma-glutamyltransferase-like 2 8104871 2685 HGNC:4258 1605884 GGTA2P glycoprotein, alpha-galactosyltransferase 2, pseudogene 12 12 12 q14.3 67323628 67324751 - 67659619 67660742 - 67265839 67266962 - 10978293;1559713;1901859;2108966 121328 ABBA01026567;AC012518;AF196986;AF378672;AMYH02026689;M60263;NG_002767 2126610;5125942 D12S868;GGTA1 GGTA1P;GLYT2L;GLYT3;HGT2 APPROVED pseudo HGNC:4254 104175 INFERRED 1353524 GGTLA3 gamma-glutamyltransferase-like activity 3 10843999 128831 HGNC:16436 2290516 GGT8P gamma-glutamyltransferase 8 pseudogene INTERACTS WITH silicon dioxide 1 2 2 p11.1 122740768 122747551 - 91963368 91970153 + 91775342 91782127 + 6480464 14702039;18357469 645367 AC027612;AK055838;AMYH02004280;NR_003503 Hs.650223 5109281 D1S1425 FLJ31276;GGT1P1 pseudo HGNC:33438 PROVISIONAL 2291779 GGTLC3 gamma-glutamyltransferase light chain 3 Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC3, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008] 22 22 q11.21 20366205 20368028 - 18516338 18518161 - 6480464 18357469;2904146;7906515 728226 B5MD39 AC023490;AMYH02038059;L10397;NG_011826 B5MD39 GGT APPROVED pseudo HGNC:33426 612340 INFERRED 2291821 GGTLC4P gamma-glutamyltransferase light chain 4 pseudogene 22 22 22 q11.23 8444308 8445840 - 24643916 24645468 - 24247948 24249500 - 18357469;2904146;7906515 729838 ABBA01055132;AMYH02038141;AP000354;L10395;NG_005992 GGT pseudo HGNC:33428 INFERRED 2291814 GGTLC5P gamma-glutamyltransferase light chain 5 pseudogene 22 22 22 q11.21 8818813 8824717 + 20610465 20616367 + 18340163 18346065 + 18357469;2904146;7906515 653590 AC011718;AMYH02038087;L10399;NG_007453 GGT pseudo HGNC:33427 INFERRED 731694 GGT7 gamma-glutamyltransferase 7 This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. [provided by RefSeq, Jul 2008] 20 20 20 q11.22 30181619 30209755 - 33432523 33460661 - 34844720 34872858 - 1580863;6480464;6907045 11780052;12270127;12477932;12562771;12693554;14702039;15943911;16344560;18357469;20379614;23891004;24778252;8104871 2686 A0PJJ9;A2A2G5;Q9UJ14 ABBA01019175;ABBA01019176;AK090413;AK097100;AK124788;AK299494;AL049709;AMYH02036985;AY138815;BC033745;BC040030;BC101370;BC101371;BC101372;BC141843;BQ013461;BX401449;CA454346;CH471077;DA117929;NM_178026 AAH33745;AAI01371;AAI01372;AAI01373;AAI41844;AAN15928;BAC03394;BAC04950;BAC85950;BAG61452;EAW76249;EAW76250;EAW76251;EAW76252;NP_821158;Q9UJ14 Hs.433738 1676666;1729526;2107151;2162451;2177952;5016781;5017227;5113635 D20S45;G38154;GGTL3__6802;RH18184;RH79709;RH91187;SHGC-67307;WI-15220 D20S101;GGT 7;GGT4;GGTL3;GGTL5;dJ18C9.2 OTTHUMP00000030708;gamma-glutamyltransferase 4;gamma-glutamyltransferase-like 3;gamma-glutamyltransferase-like 5;gamma-glutamyltranspeptidase 7;gamma-glutamyltranspeptidase-like 3;glutathione hydrolase 7 APPROVED protein-coding ENSG00000131067 HGNC:4259 07488 612342 REVIEWED 1315571 GGN gametogenetin This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear, cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may play a role in spermatogenesis. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 35677229 35680905 - 38874992 38879096 - 38384352 38388455 - 6480464;8554872 12477932;12574169;14702039;15489334;15642376;21114676;22990118 199720 K7EJI6;K7ENT5;Q86UU5 ABBA01040680;AC005789;AF538035;AF538036;AF538037;AK057356;AK093032;AMYH02036070;BC035008;BK000550;CH471126;HC007004;NM_152657;XM_005258619 AAH35008;AAP31500;AAP31501;AAP31502;ABM82154;ABM85339;BAC04025;CBH19307;DAA00240;EAW56786;EAW56787;EAW56788;NP_689870;Q86UU5;XP_005258676 Hs.447948 1683679 RH98516 FLJ35713;MGC33369 APPROVED protein-coding ENSG00000179168 HGNC:18869 17036 609966 REVIEWED 1344971 GH2 growth hormone 2 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 56345654 56347305 - 61957572 61960039 - 63880212 63881942 - 1580863;6907045;6480464;8554872 11994274;12213191;12477932;12946357;1378436;14595650;15489334;15531513;15563602;15718272;16344560;17701665;18356738;18976975;1955498;1980158;19844941;20005926;20403354;2196278;22363400;22387044;22489624;23178941;24035309;2460050;2744760;3379057;6262212;6286668;6306568;7072716;7169009;7384802;8943276;9367422;9709963;9820620 2689 P01242;Q6FH54 AB451332;AB451477;ABBA01035316;AC040958;AF006060;AF006061;AK312194;AMYH02033781;AU139016;BC020760;CF528273;CH471109;CR541902;CR541924;EU421715;J03071;J03756;K00470;M38451;NM_002059;NM_022556;NM_022557;NM_022558 AAA35891;AAA52552;AAA98619;AAB59547;AAB59548;AAB71828;AAB71829;AAH20760;ABZ88719;ABZ88720;ABZ88721;ABZ88722;BAG35127;BAG70146;BAG70291;CAG46700;CAG46722;EAW94238;EAW94248;EAW94252;EAW94258;NP_002050;NP_072050;NP_072051;NP_072052;P01242 Hs.406754;Hs.654390 1777385;5014941;5491398 GHI;RH66837;STS-J03756 GH-V;GHL;GHV;hGH-V growth hormone variant;placenta-specific growth hormone;placental-specific growth hormone 2316339 GLUCO234_H APPROVED protein-coding ENSG00000136487 HGNC:4262 00750 139240 REVIEWED 1343352 GGTLC1 gamma-glutamyltransferase light chain 1 This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008] 20 20 20 p11.1 24039031 24044083 - 23965687 23969475 - 23985050 23988831 - 1580863;6480464 10843999;11780052;12477932;15489334;16289162;17207965;18357469;20932654;7689219 92086 D3DW46;Q9BX51 ABBA01048738;ABBA01048739;AL133466;AMYH02036839;BC040904;CH471133;L20491;L20492;NM_178311;NM_178312;XM_005260863;XM_005260864;XM_005260865;XM_006723661;XM_006723662 AAA02885;AAA35864;AAH40904;ADQ33123;EAX10125;EAX10126;EAX10127;EAX10128;EAX10129;EAX10130;EAX10131;NP_842563;NP_842564;Q9BX51;XP_005260920;XP_005260921;XP_005260922;XP_006723724;XP_006723725 Hs.355394 5021298;5119957;5123354;5124792;5127483 D22S732;GDB:190922;J05235;RH69116;RH79893 GGTL6;GGTLA3;GGTLA4;MGC50550;dJ831C21.1;dJ831C21.2 OTTHUMP00000030453;OTTHUMP00000030455;OTTHUMP00000030458;gamma-glutamyl transpeptidase;gamma-glutamyltransferase-like activity 3;gamma-glutamyltransferase-like activity 4;gamma-glutamyltransferase-like protein 6;gamma-glutamyltranspeptidase-like APPROVED protein-coding ENSG00000149435 HGNC:16437 17037 612338 REVIEWED 1603379 GHDC GH3 domain containing ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH copper(2+) sulfate; quercetin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q21.2 36995332 37000777 - 40341105 40346550 - 42189087 42194532 - 6480464;8554872 11161808;11735219;12477932;14702039;15489334;16303743;16344560;19946888 84514 K7EJT7;K7EL54;K7EQ41;K7ESN3;Q8N2G8 ABBA01006434;AC099811;AF316997;AK074700;AK075277;AK122777;AK123075;AK298933;AK307058;AK307628;AMYH02033428;BC011056;BC022784;CH471152;CQ783605;DB084267;NM_001142622;NM_001142623;NM_032484;NR_024573 AAH22784;AAK15472;BAC11146;BAC11514;BAG53722;BAG61036;CAF86772;EAW60811;EAW60812;EAW60813;EAW60814;EAW60815;EAW60816;NP_001136094;NP_001136095;NP_115873;Q8N2G8 Hs.38039 2107265;2144231;2150046 LGP1__7409;RH17547;RH78763 D11LGP1;LGP1 D11lgp1e-like;GH3 domain-containing protein;homolog of mouse LGP1 protein-coding ENSG00000167925 HGNC:24438 16352 608587 VALIDATED 7820253 GHET1 gastric carcinoma proliferation enhancing transcript 1 q36.1 14702039;24397586 102723099 AK123072;BC037977 Hs.621982;Hs.737789 gastric carcinoma high expressed transcript 1;lncRNA-GHET1 protein-coding HGNC:49425 1345603 GGTLC2 gamma-glutamyltransferase light chain 2 This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. [provided by RefSeq, Sep 2013] 22 22 22 q11.22 8823122 8824708 + 22987059 22990368 + 22644623 22647898 + 1580863;6480464 10591208;12477932;17207965;18357469;22001757;7689219;8830654;9074928 91227 Q14390 ABBA01055094;AC244250;AI026655;AI138829;AW183356;BC069534;BX282400;D87002;EL736203;HY050283;NG_000002;NM_001282879;NM_199127;X98922;XM_005261815;XM_005261817;XM_005261818;XM_006724365;XM_006724366;XM_006724367;XM_006724368 AAH69534;BAA20001;CAA67421;NP_001269808;NP_954578;Q14390;XP_005261872;XP_005261874;XP_005261875;XP_006724428;XP_006724429;XP_006724430;XP_006724431 Hs.450000;Hs.632765 5021298;5119957;5124792;5127483 D22S732;GDB:190922;J05235;RH79893 GGTL4;MGC96916 OTTHUMP00000199322;OTTHUMP00000205586;gamma-glutamyltransferase-like 4;gamma-glutamyltransferase-like protein 4 APPROVED protein-coding ENSG00000100121 HGNC:18596 09971 612339 VALIDATED 733414 GGT5 gamma-glutamyltransferase 5 This gene is a member of a gene family that encodes gamma-glutamyl transpeptidase enzymes. This enzyme consists of a heavy and a light chain, and is able to hydrolyze the gamma-glutamyl moiety of glutathione. It converts leukotriene C4 to leukotriene D4, however, it doesn't convert synthetic substrates that are commonly used to assay gamma-glutamyl transpeptidase. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.23 8416020 8441502 - 24615622 24641317 - 24219654 24245142 - 1300048;1580863;69846;6480464;6907045;8554872 9374738 10090893;10591208;11063908;12477932;15461802;15489334;1676842;18357469;23624525;24847614;6122208;8095916;8125298 2687 C9JU68;H7C1X2;P36269 ABBA01055130;ABBA01055131;ABBA01055132;AI581436;AK225661;AK226019;AK292006;AK293683;AK297869;AK304522;AK312401;AL117414;AMYH02038141;AP000353;AP000354;BC011362;BC073999;BT009808;BX425817;CH471095;CT841518;M64099;NM_001099781;NM_001099782;NM_004121;XM_005261557;XM_005261558;XM_005261559 AAA58503;AAH11362;AAH73999;AAP88810;ABM81961;ABM85140;BAF84695;BAG57124;BAG60196;BAG65326;CAB55910;CAJ86448;EAW59643;EAW59644;EAW59645;NP_001093251;NP_001093252;NP_004112;P36269;XP_005261614;XP_005261615;XP_005261616 Hs.437156 1784520;2154990 D22S1236;SHGC-170347 DKFZp566O011;FLJ92733;GGT 5;GGT-REL;GGTLA1 OTTHUMP00000198512;OTTHUMP00000198513;OTTHUMP00000198514;gamma-glutamyl cleaving enzyme;gamma-glutamyl transpeptidase-related enzyme;gamma-glutamyl transpeptidase-related protein;gamma-glutamyltransferase-like activity 1;gamma-glutamyltranspeptidase 5;glutathione hydrolase 5;leukotriene-C4 hydrolase APPROVED protein-coding ENSG00000099998 HGNC:4260 00666 137168 REVIEWED 1345873 GHITM growth hormone inducible transmembrane protein INVOLVED IN apoptotic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3-dimethoxynaphthalene-1,4-dione; acetylsalicylic acid; antimony(0) 10 10 10 q23.1 79894096 79908234 + 85899185 85913311 + 84139429 84153555 + 1580863;6480464 11076863;11230166;11256614;12477932;12975309;15164054;15489334;15489336;16381901;16385451;18417609;18440869;19056867;20819778;20877624;21693764;21890473;21903422;21906983;24816145;8125298;8619474;9110174 27069 B4DPG9;Q5VT94;Q9H3K2 AB009685;ABBA01003761;AC022389;AF060923;AF078863;AF131820;AF161400;AK098770;AK130094;AK130097;AK225318;AK292864;AK297960;AK298332;AK299937;AL136713;AL603756;AL834502;AMYH02023450;AY358824;BC010354;BC022872;CH471142;CR533519;CS072954;NM_014394 AAD20052;AAD44495;AAF28960;AAG43135;AAH10354;AAQ89183;BAA93049;BAF85553;BAG60272;BAG60581;BAG61770;CAB66648;CAG38550;CAH56398;CAI93684;CAL38307;CAL38561;EAW80367;EAW80368;EAW80369;EAW80370;NP_055209;Q9H3K2 Hs.352656 1667802;1735998;2156294;2164856;2164858;5122440;5494146 A001T01;D10S1287E;D10S2359;G19610;RH141018;SHGC-167;WI-18665 DERP2;DKFZp566C0746;FLJ26584;HSPC282;MICS1;My021;PTD010;TMBIM5 OTTHUMP00000019998;OTTHUMP00000019999;dermal papilla-derived protein 2;growth hormone-inducible transmembrane protein;mitochondrial morphology and cristae structure 1;transmembrane BAX inhibitor motif containing 5;transmembrane BAX inhibitor motif-containing protein 5 protein-coding ENSG00000165678 HGNC:17281 17038 VALIDATED 2292056 GHRLOS ghrelin opposite strand/antisense RNA This gene is an antisense gene of the ghrelin/obestatin prepropeptide gene. Alternatively spliced transcript variants have been identified and they may function as non-coding regulatory RNAs. [provided by RefSeq, Jan 2013] 3 3 3 p25.3 10263246 10270941 + 10322636 10335133 + 10280952 10293449 + 8554872 17727735;18954468 100126793 ABBA01020379;ABBA01020380;ABBA01020381;AC022384;AMYH02006255;BM991802;BX118778;EF549558;EF549559;EF549560;EF549568;EF549570;EU072081;EU072082;EU789528;EU789529;EU789530;EU789531;EU789532;EU789534;EU789535;EU789536;EU789537;EU789538;EU789539;EU789540;EU789541;EU789542;EU789543;EU789544;EU789545;EU789546;HG495481;HG495482;HG495483;HG495484;KF457573;NG_033090;NR_004431;NR_024144;NR_024145;NR_073566;NR_073567;NR_073568 Hs.672979 1653892;1671030;2187753;2187871;2187873;2187875 G72347;G72348;G72349;G72355;RH36438;SHGC-34896 GHRL-AS1;GHRLAS;NCRNA00068 APPROVED ncrna ENSG00000240288 HGNC:33885 VALIDATED 69149 GHR growth hormone receptor This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011] 5 5 5 p13-p12 42314115 42611474 + 42423577 42721980 + 42423475 42721878 + 704404;1601315;1601316;1580863;2301716;2307367;2307368;2307364;2307366;2307374;2307382;2307363;2307365;2307378;2307370;2307369;2307380;2307376;6480464;6907045;7240710;8554872;8699517 10541297;10614635;10990443;11126270;11469393;12054124;12529387;12654216;12679928;12865352;14632687;15066219;17287408;17537658;2813379;7565946 10391209;10502458;10551776;10567404;10585430;10715538;10764769;10866662;10870033;10976913;11158048;11316758;11456111;11513560;11719288;11785980;11851338;11924928;12088868;12135564;12423626;12477932;12552091;12586763;12611612;12679461;12735788;12756585;1284474;12846737;12907755;1301391;14517972;14551225;14678285;14718574;15001620;15042833;15061875;15085728;15196705;1549776;15563602;15583394;1569971;15743767;15751611;15755445;15857837;15891957;16116438;16213173;16246940;16291702;16291706;16352683;16372230;16381017;16394090;16572267;16582564;16722931;16741161;16757551;17003087;17082603;17090634;17137217;17148568;17220348;17274879;17289896;17347571;17350302;17405847;17426087;17462934;17474147;17500058;17514010;17546465;17547682;17555507;17555512;17573420;17598975;17622584;17666591;17671221;17706034;17711923;17761766;17764692;17849745;17884454;17925340;17957148;17973940;17986824;17991764;18001530;18031312;18054353;18073295;18160465;18182091;18204098;18299312;18397980;18401200;18404972;18420710;18445665;18488018;18611972;18636124;18648510;18676680;18793346;18820897;18832799;18950677;18974274;19050057;19064572;19084217;19089622;19116245;19116246;19167335;19169479;19170196;19189684;19204726;19336510;19344073;19344888;19407498;19417039;19439509;19447840;19453261;19486024;19487270;19540305;19541519;1955498;19584188;19605543;19625176;19634821;19681916;19692168;19701549;19730683;19812236;19815155;19842933;19844941;19850678;19864451;19913121;1999489;20013551;20039885;20105189;20149700;20219401;20382688;20421852;20447065;20453000;20540360;20592127;20628086;20634197;20664532;20734064;20810604;20849725;20855935;21073120;21195069;21238539;21273694;21310852;21347402;21386804;21436896;21470351;21623854;21744231;21820924;21846964;21900382;21913951;21980433;22034227;22052808;22077984;22162472;22278433;22386777;22433856;22456308;22702213;23006423;23047741;23162096;23192981;23288882;23426819;23607312;23696513;2369845;23740230;23782942;23999134;24022308;2406245;24114431;24134847;24280222;24296660;24307807;24335149;24412931;24676793;24866575;2776481;2776934;2779634;2825030;7535773;7540178;7608270;7782332;7862673;7984244;8063815;8137822;8360189;8421103;8488849;8504296;8636303;8702683;8855247;8889548;8901592;8923468;8943276;9024232;9058373;9075743;9121492;9140387;9341147;9353194;9360546;9632636;9814495;9851797;9886834 2690 E7ES05;E9PCN7;F5H7X2;P10912 ABBA01024240;ABBA01024241;AC093225;AC113368;AC114941;AC116343;AF155912;AF210633;AF230800;AF230801;AF322014;AF322015;AJ009889;AJ131868;AJ278681;AJ295613;AJ422105;AMYH02011226;AMYH02011227;AMYH02011228;BC136496;BM719293;BU625645;CH471119;CQ832616;CS482307;HC250959;HC311148;HM761441;JC335035;KC876969;KF457892;M28458;M28459;M28460;M28461;M28462;M28463;M28464;M28465;M28466;M28467;NG_011688;NM_000163;NM_001242399;NM_001242400;NM_001242401;NM_001242402;NM_001242403;NM_001242404;NM_001242405;NM_001242406;NM_001242460;NM_001242462;S97393;X06562;XM_005248288;Z11801;Z11802;Z11848;Z11849;Z11850;Z11851;Z11853 AAA52555;AAD15015;AAF71399;AAI36497;CAA29808;CAA77845;CAA77846;CAA77872;CAA77873;CAA77874;CAA77875;CAA77877;CAC06613;CAC06615;CAH05763;CAM36317;CBJ05777;CBJ21229;CDM63320;EAW56023;NP_000154;NP_001229328;NP_001229329;NP_001229330;NP_001229331;NP_001229332;NP_001229333;NP_001229334;NP_001229335;NP_001229389;NP_001229391;P10912;XP_005248345 Hs.125180;Hs.684632;Hs.688223 1649947;1690666;1699884;1713013;1720193;1720873;1727627;1731369;1748841;1781192;1795916;1853226;2142319;2154115;2173216;7184802 D18S21;D5S1587E;G15875;G59264;G63224;GHR_332;L28287;RH103550;RH120597;RH124010;RH75947;SHGC-110510;SHGC-14459;STS-X06562;human.GHR GHBP GH receptor;OTTHUMP00000120020;growth hormone binding protein;serum binding protein;somatotropin receptor APPROVED protein-coding ENSG00000112964 HGNC:4263 02971 143890;262500;600946;604271 REVIEWED 730941 GHSR growth hormone secretagogue receptor This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010] 3 3 3 q26.31 170559676 170564839 - 172161081 172166246 - 172443291 172448456 - 1625252;1625270;1642818;6480464;7240710;8554872;8699517 15788704;16511600;16511605 10604470;11227737;11322498;11322507;11356716;12045256;12477932;12511847;12574228;12890514;14701677;14715843;14715878;14719137;14755130;14763915;15062547;15080774;15232612;15383539;15489334;15585554;15616037;16020971;16362631;16527811;16567594;16582936;16606630;16754659;16787234;17018595;17229547;17324965;17428235;17494105;17601657;17885924;18064392;18375957;18425803;18426818;18573679;18647811;18698404;18828808;18945286;19024096;19056482;19058789;19077438;19088192;19165163;19262695;19453261;19487270;19506043;19670151;19782690;19789204;19876004;19887765;19913121;20150876;20164039;20185531;20201926;20346234;20404923;20453000;20468064;20586762;20599926;20616368;20628086;20636306;20727371;20804798;20861603;20881960;20920174;21084395;21145775;21269581;21606657;21616122;21646290;21664965;21903149;21930173;21956643;22117076;22327910;22411573;22457237;22465164;22573814;22632856;22632858;22846991;22876551;22899222;23079033;23161547;23515787;23563607;23722988;23807739;23816797;23839942;23982275;24194510;601898;8688086;9092793;9852035 2693 Q92847 ABBA01058652;AC069523;AF099083;AF369786;AMYH02008147;AY322544;AY429112;BC069068;BC069374;BC113547;CH471052;CS174239;FB660530;JA417646;NG_021159;NM_004122;NM_198407;U60179;U60181 AAC50653;AAC50654;AAC97506;AAH69068;AAH69374;AAI13548;AAK71539;AAK71540;AAP84357;AAR07907;ADR82965;CAJ34548;CAS01830;CCD32722;EAW78468;EAW78469;NP_004113;NP_940799;Q92847 Hs.130212 2107153;2187745;2187747;2187749;2187751;5494025 G68325;G68326;G68327;G68328;GHSR__6803;UniSTS:480752 GHRP;GHS-R GH-releasing peptide receptor;OTTHUMP00000211092;OTTHUMP00000211093;ghrelin receptor;growth hormone secretagogue receptor type 1 APPROVED protein-coding ENSG00000121853 HGNC:4267 03541 601898;604271 REVIEWED 1322085 GID4 GID complex subunit 4 The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18883766 18912866 + 17942611 17971719 + 18039297 18068405 + 737633;6480464;8554872 12477932 11840190;11997338;14702039;15489334;24250222 79018 B3KXL6;K4DI96;K7ELH7;K7ENE2;Q8IVV7 ABBA01009740;ABBA01009741;AC087163;AC087164;AK074284;AK127580;AK315083;AMYH02033104;AMYH02033105;BC000636;BC041829;CH471196;NM_024052;XM_005256799;XM_005256800 AAH00636;AAH41829;BAB85036;BAG54528;EAW55673;EAW55674;NP_076957;Q8IVV7;XP_005256856;XP_005256857 Hs.187422 1698448;1773280;2182403 RH102773;RH15885;RH17943 C17orf39;MGC3048;VID24 GID complex subunit 4, VID24 homolog;OTTHUMP00000065702;glucose-induced degradation protein 4 homolog;hypothetical protein LOC79018;uncharacterized protein C17orf39;vacuolar import and degradation 24;vacuolar import and degradation protein 24 homolog APPROVED protein-coding ENSG00000141034 HGNC:28453 12683 VALIDATED 737566 GHRH growth hormone releasing hormone The protein encoded by this gene belongs to the glucagon family and is a preproprotein that is produced in the hypothalamus. The preproprotein is cleaved to form a 44 aa factor, also called somatocrinin, that acts to stimulate growth hormone release from the pituitary. Variant receptors for somatocrinin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. [provided by RefSeq, Jul 2008] 20 20 20 q11.2 32586769 32592579 - 35879489 35887534 - 37251086 37256896 - 1580863;2301425;2289976;2289972;2289974;2301426;2301422;2301423;2301424;5687168;5687177;5687742;5687196;6480464;5687169;8554872 10022420;10962030;11163834;11710593;12364462;1425411;15784701;15870705;16750036;16859658;1973621;21406516;21846799 10537133;11773624;11780052;12036966;12126741;12186980;12213676;12424433;12477932;12511850;12867592;1333056;15362970;15489334;15538933;16214911;16606630;17372203;17546465;18240029;18329818;18684444;18996102;19086053;19088192;19453261;19487270;19524226;19622623;20150954;20169434;20372804;20453000;20518847;20602615;20633588;20634197;20673733;20734064;20810604;20843274;20869425;21196925;21274339;21478211;21715545;22423511;23542451;23689947;2854259;2857452;2992358;3002494;3008329;3029387;3918305;6192430;6415488;6812220;7680413;8020943;8421089;8670892 2691 P01286 ABBA01006617;AI631051;AL031659;AMYH02037044;AW134884;BC098109;BC098161;BC099727;BX102214;CH471077;L00134;L00137;NM_001184731;NM_021081;X00094 AAA52608;AAA52609;AAH98109;AAH98161;AAH99727;CAA24955;CAA24956;EAW76072;NP_001171660;NP_066567;P01286 Hs.37023 1748449;1748451;1748453;1748455;1774563;2125059 G66937;G66938;G66939;G66940;RH71010;RH71427 GHRF;GRF;INN;MGC119781 OTTHUMP00000030915;OTTHUMP00000030916;growth hormone-releasing factor;growth hormone-releasing hormone;sermorelin;somatocrinin;somatoliberin;somatorelin APPROVED protein-coding ENSG00000118702 HGNC:4265 11752 139190 REVIEWED 735662 GIF gastric intrinsic factor (vitamin B synthesis) This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008] 11 11 11 q13 56959492 56975732 - 59596746 59612974 - 59829273 59845501 - 704404;1580863;6480464;7240710;8554872;8699517 11788601;12477932;14576042;14695536;15489334;15736970;15738392;17255364;17954916;18338170;19036097;20237569;20615890;2071148;21822266;22556038;22929189;23402911;4045300;5044916;8886952;9572993 2694 E9PM21;P27352 ABBA01021509;AK301290;AK301295;AK314275;AMYH02024868;AP002347;BC037958;CH471076;NG_008120;NM_005142;X76562;XM_005273910 AAH37958;ABM83395;ABM86608;BAG36935;BAG62848;BAG62853;CAA54061;EAW73860;NP_005133;P27352;XP_005273967 Hs.110014 1660260;1770256;5120155 GDB:197843;GIF;SHGC-35409 IF;IFMH;INF;TCN3 OTTHUMP00000235877;gastric intrinsic factor;intrinsic factor APPROVED protein-coding ENSG00000134812 HGNC:4268 02024 261000;609342 REVIEWED 1314368 GIGYF2 GRB10 interacting GYF protein 2 This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 2 2 2 q37.1 227326329 227489565 + 233562015 233725287 + 232697305 232860577 + 1580863;6480464;7240710;8554872;8699517 12168954;12477932;12638082;12771153;14702039;15302935;15489334;16120600;17081983;18358451;18923002;19117363;19133664;19250854;19279319;19321232;19348706;19429085;19449032;19482505;19562763;19596686;19615732;19638301;19845746;19906271;19946888;20004041;20020773;20044296;20060621;20178831;20301402;20379614;20531386;20641165;20670374;20685231;20696395;20816920;20878056;20936779;21139048;21360678;21726808;21890473;21906983;21963094;22115759;22503729;22505724;22586326;22751931;23000965;23199482;23443559;23862649;23974872;24250222;24255178;24457600;24639526;24816145;8889549;9225980;9734811 26058 B8ZZD2;C9IYH5;C9J0V6;C9J1A6;C9J7G1;C9JC65;C9JH18;C9JH78;C9JHT0;C9JHW1;C9JPV7;C9JRZ2;C9JW88;C9JXQ0;C9JZC0;E7ESB6;F8WBF1;F8WCD5;I1E4Y6;Q6Y7W6 AB014542;ABBA01002006;ABBA01002007;ABBA01002008;AC016692;AC064852;AK001739;AK027021;AK297162;AK299418;AK302998;AMYH02005991;AMYH02005992;AMYH02005993;AMYH02005994;AY176045;BC008072;BC014047;BC029456;BC043402;BC053684;BC093090;BC108691;BC136251;BC143352;BC146775;BE220828;BG527686;BX537885;BX538172;BX538321;BX647172;BX647505;CH471063;DC346582;NG_011847;NM_001103146;NM_001103147;NM_001103148;NM_015575;NR_103492;NR_103493;NR_103494;NR_103495 AAH08072;AAI36252;AAI46776;AAO46889;ACE86508;ACE86512;ACE87189;ACE87193;BAA31617;BAA91873;BAG59659;BAG61400;BAG64133;CAD97881;CAD98095;EAW71016;EAW71017;EAW71018;EAW71020;NP_001096616;NP_001096617;NP_001096618;NP_056390;Q6Y7W6 Hs.565319 1299966;1646454;1681382;1685423;1721197;1851144;1856952;2107695;2108183;2115491;7187428 D2S206;G59437;KCNJ13_7654;RH68362;RH94056;RH94296;SHGC-33096;STS-Z40945;TNRC15__5112;WIAF-2198 DKFZp686I15154;DKFZp686J17223;FLJ23368;GYF2;KIAA0642;PARK11;PERQ2;PERQ3;TNRC15 GRB10-interacting GYF protein 2;GYF domain containing 2;OTTHUMP00000203484;OTTHUMP00000203485;OTTHUMP00000203486;OTTHUMP00000203487;OTTHUMP00000203488;OTTHUMP00000203489;PERQ amino acid rich, with GYF domain 2;PERQ amino acid rich, with GYF domain 3;PERQ amino acid-rich with GYF domain-containing protein 2;Parkinson disease (autosomal recessive, early onset) 11;trinucleotide repeat containing 15;trinucleotide repeat-containing gene 15 protein APPROVED protein-coding HGNC:11960 11639 607688;612003 REVIEWED 1350070 GIMAP1 GTPase, IMAP family member 1 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene is thought to be involved in the differentiation of T helper (Th) cells of the Th1 lineage, and the related mouse gene has been shown to be critical for the development of mature B and T lymphocytes. Read-through transcription exists between this gene and the downstream GIMAP5 (GTPase, IMAP family member 5) gene. [provided by RefSeq, Dec 2010] 7 7 7 q36.1 144970795 144975334 + 150413645 150421368 + 150716557 150724280 + 1303371;6480464 15474311 11814688;12477932;12690205;14702039;15489334;16344560;18701445;19454010;20194894;22505724;24816145 170575 Q8WWP7 AACC02000108;ABBA01035177;AC006479;AJ306287;AK091818;AK315127;AMYH02017061;AW029312;BC040736;CH471173;DA817535;NM_130759 AAH40736;BAC03754;BAG37580;CAC83740;EAL24485;EAW54095;NP_570115;Q8WWP7 Hs.647079 5109281 D1S1425 HIMAP1;IAN2;IMAP1;IMAP38 GTPase IMAP family member 1;OTTHUMP00000212219;immune-associated nucleotide-binding protein 2;immunity associated protein 1;immunity-associated protein 1 APPROVED protein-coding ENSG00000213203 HGNC:23237 16278 608084 REVIEWED 1320542 GIGYF1 GRB10 interacting GYF protein 1 INVOLVED IN insulin-like growth factor receptor signaling pathway (inferred); INTERACTS WITH arsenite(3-); benzo[a]pyrene diol epoxide I; valproic acid 7 7 7 q22 95007691 95017430 - 100277130 100286870 - 100679507 100694273 - 6480464 11239002;12477932;12690205;12771153;16713569;16964243;17672918;19322201;20878056;22751931;23443559;23444366;24255178;3;9799793 64599 A2VDH9;O75420 AADB02010717;ABBA01013192;AC009488;AF086157;AF088067;AF289554;AMYH02016387;AY176044;BC018563;BC036595;BC129991;BQ069946;CH236956;CH471091;NM_022574;XM_005250532;XM_005250533;XM_006716086;XM_006716087;XM_006716088 AAI29992;AAI72395;AAL55738;AAO46888;EAL23822;EAW76496;EAW76497;EAW76498;NP_072096;O75420;XP_005250589;XP_005250590;XP_006716149;XP_006716150;XP_006716151 Hs.414396 1700490;2012534;2156557 GDB:4585735;REN77196;RH103866 GYF1;PERQ1 GRB10-interacting GYF protein 1;GYF domain containing 1;OTTHUMP00000211357;PERQ amino acid rich, with GYF domain 1;PERQ amino acid-rich with GYF domain-containing protein 1;postmeiotic segregation increased 2-like 12 protein-coding ENSG00000146830 HGNC:9126 10145 612064 VALIDATED 734452 GHRHR growth hormone releasing hormone receptor This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010] 7 7 7 p14 30992840 31008351 + 31003636 31019146 + 30964021 30979531 + 728477;704404;1580863;1601338;1601337;6480464;2301422;7240710;8554872;8699517 12161265;15870705;8528260;9845677 10084571;10429879;10461027;10537133;10962031;11232012;11773624;11875102;12036966;12126741;12220726;12220735;12364462;12424433;12444890;12534354;12606621;12656663;12690205;12794696;12853948;12867592;1333056;15362970;15944917;16214911;16284391;16344560;16606630;16820890;17356054;17546465;18034778;18240029;18255167;18577758;18629632;18785993;19029774;19086053;19209235;19453261;19487270;19524226;19567534;19622623;19640273;19733620;19897610;19913121;19965916;20374725;20424473;20453000;20628086;20634197;20734064;20810604;20819778;21044116;21816782;21995288;22160161;22489751;23052699;23602557;24057284;7559877;7629234;7680413;8188233;9467553;9482665;9814493 2692 Q02643;Q9HB42;Q9HB43;Q9HB44;Q9HB45 AACC02000087;AB058895;AB065701;ABBA01056814;AC005155;AF282259;AF282260;AF282261;AF282262;AMYH02015460;AV750179;AY557192;CH471073;DB348314;L01406;L09237;NG_021416;NM_000823;S79912;U17579;U42225 AAA35890;AAA58619;AAB18630;AAB18631;AAB18632;AAB37758;AAC23789;AAD14318;AAG15368;AAG15369;AAG15370;AAG15371;AAI66636;AAS59864;BAB40232;BAC05924;EAL24445;EAW93973;EAW93974;EAW93975;EAW93976;EAW93977;NP_000814;Q02643 Hs.733003;Hs.767 1643895;1789548;1789550;2108117;2124440;2137147;2160757;2187727;2187729;2187731;2187733;2187735;2187737;2187739;2187741;2187743 G68145;G68148;G68166;G68167;G68168;G68169;G68170;G68171;G68172;G68173;G68174;GDB:6028546;GHRHR;GHRHR_8370;SHGC-35683;WI-7721 GHRFR;GHRHRpsv;GRFR;IGHD1B GHRH receptor;GRF receptor;OTTHUMP00000202460;OTTHUMP00000202499;growth hormone-releasing hormone receptor APPROVED protein-coding ENSG00000106128 HGNC:4266 00748 139191;612781 REVIEWED 1346039 GID8 GID complex subunit 8 FOUND IN cell junction; nucleus; INTERACTS WITH (+)-catechin; atrazine; cocaine (ortholog) 20 20 20 q13.33 58246068 58256455 + 61569421 61579827 + 62938089 62948475 + 6480464 11780052;12107413;12477932;12559565;12938929;14702039;15489334;16751776;17207965;17353931;17467196;19322201;19596235;21139048;21890473;21906983;22863883;22939629;23402259;23667531;24250222 54994 B4DS00;Q9NWU2 ABBA01021377;AK000609;AK025775;AK299509;AL117379;AL121673;AMYH02037444;BC031819;BC032120;BQ931571;BQ935273;CD676269;CH471077;DQ601588;NM_017896 AAH32120;ADQ32232;BAA91285;BAG61462;EAW75318;EAW75319;NP_060366;Q9NWU2 Hs.353013 1681127;1682539;1683559;1686310;1688362;1688622;1693688;2117409 D20S1106;RH26943;RH39001;RH66099;RH77850;RH78524;SHGC-58609;WIAF-2552 C20orf11;TWA1 GID complex subunit 8 homolog;OTTHUMP00000043372;glucose-induced degradation protein 8 homolog;two hybrid associated protein 1;two hybrid-associated protein 1 with RanBPM APPROVED protein-coding ENSG00000101193 HGNC:15857 12738 611625 VALIDATED 730950 GHRL ghrelin/obestatin prepropeptide This gene encodes ghrelin-obestatin preproprotein, which generates ghrelin and obestatin. Ghrelin is an endogenous ligand for the growth hormone secretagogue receptor and is involved in regulating growth hormone release. Obestatin was initially reported to be an endogenous ligand for the orphan G protein-coupled receptor GPR39 and was involved in satiety and decreased food intake; however, these findings are controversial. Recent reports show that obestatin is involved in inhibiting thirst and anxiety, improving memory, regulating sleep, affecting cell proliferation, and increasing the secretion of pancreatic juice enzymes. Alternative promoters and alternative splicing result in multiple transcript variants, some of which encode different protein isoforms and some of which do not encode a protein but may regulate the ghrelin-obestatin preproprotein expression. In addition, antisense transcripts for this gene have been identified and may also function in regulation of the ghrelin-obestatin preproprotein expression. [provided by RefSeq, Oct 2008] 3 3 3 p26-p25 10263242 10270439 - 10327434 10334631 - 10285750 10292947 - 704404;1625021;1642818;2313748;2313750;2313747;2313749;2313745;2313744;6480464;7240710;7242429;7242430;7242553;7242555;7242556;7242563;8554872 12576449;15788704;16204371;18025762;18552255;18657539;18809976;18848536;18996292;19046237;19188925;19625378;19733151;20930430 10461027;10604470;10930375;11061542;11089560;11158061;11159851;11196643;11227737;11306336;11314756;11502844;11549663;11724768;11788653;11815627;12050239;12050285;12091883;12107501;12107502;12133904;12153739;12161511;12161552;12181387;12364442;12364482;12414809;12429880;12477932;12519838;12519848;12531885;12547722;12553549;12566947;12606621;12656662;12663466;12679442;12679444;12679456;12727951;12727973;12727993;12732215;12739020;12824869;12829648;12851720;12887287;12892652;12907757;12931038;12974878;12975309;14514639;14521948;14527669;14530511;14551671;14559725;14585085;14602792;14602798;14614562;14671152;14671163;14681862;14715869;14715878;14724664;14763915;14764817;14871884;14962995;15001628;15039149;15052530;15057669;15057670;15057671;15070922;15070928;15070936;15070937;15075452;15090637;15117840;15126531;15126574;15132729;15142980;15158140;15181038;15181083;15181097;15192277;15231997;15232612;15248830;15248831;15248833;15254759;15256494;15292316;15292322;15292337;15292338;15292475;15340161;15350694;15382608;15472212;15476444;15489334;15522935;15522942;15531532;15538935;15564328;15572208;15576457;15579749;15585547;15604212;15648019;15657368;15688209;15699539;15745452;15752580;15758554;15775713;15786542;15795476;15820771;15824975;15855322;15863960;15890737;15894681;15955378;15956087;15972581;15998659;15998770;16014402;16108842;16131812;16181346;16182310;16187069;16188911;16189175;1619020;16191452;16198134;16204363;16207498;16210421;16284174;16322288;16322325;16340041;16341674;16363872;16384853;16391832;16394173;16420657;16423919;16459454;16472909;16476508;16483881;16491079;16511605;16527811;16538179;16549524;16552751;16563563;16601073;16606630;16718628;16720664;16734390;16735961;16754659;16759313;16793966;16839485;16865101;16868147;16921495;16929150;16929151;16942934;16949080;16954159;16954444;16957407;16959833;16979415;17068144;17074331;17079741;17113048;17119003;17138722;17167339;17184731;17187020;17197106;17201814;17258885;17280594;17289852;17311892;17317021;17317872;17324965;17336462;17344504;17347386;17389697;17392603;17405826;17436104;17449920;17494105;17495198;17530417;17543279;17544318;17551399;17556836;17562288;17587401;17595255;17596538;17601657;17609506;17616759;17616856;17635077;17646723;17652221;17666475;17667848;17688884;17689128;17709151;17711921;17717076;17719561;17727735;17766711;17869379;17884032;17884293;17890503;17893689;17923797;17949242;17952631;17952858;17957153;17957159;17992641;17992644;18001718;18049109;18051927;18055420;18064390;18070417;18070755;18071345;18075283;18166814;18178497;18182091;18198306;18205273;18239577;18239581;18246525;18249219;18250617;18271692;18271694;18274638;18280066;18283260;18299465;18308399;18325633;18329818;18343535;18350633;18362297;18375957;18380540;18397989;18398047;18401204;18401836;18404598;18416474;18419786;18425803;18448790;18450953;18452507;18461271;18466078;18480381;18492761;18510797;18534636;18547344;18550870;18552514;18561093;18563283;18567824;18573679;18577758;18584199;18588931;18595130;18602197;18611262;18616714;18622896;18624998;18636124;18663995;18665387;18667202;18677577;18697865;18700166;18703566;18714814;18728162;18797403;18828808;18831996;18945286;18973889;18976754;18979162;18987287;18992263;18996102;19004538;19011469;19022392;19028051;19031219;19039650;19041092;19049992;19054012;19054628;19057526;19058789;19059729;19073905;19077438;19100004;19106245;19112387;19120912;19139783;19154949;19160571;19165163;19191138;19193342;19198916;19199214;19213003;19246923;19261663;19262695;19262995;19282046;19289536;19318377;19324904;19325538;19327128;19337009;19339394;19352215;19367093;19369431;19385031;19393347;19397477;19406177;19408254;19419933;19424595;19433492;19453261;19491251;19491387;19521111;19560502;19587265;19589259;19601914;19617874;19628676;19665916;19666068;19670151;19705241;19722179;19770497;19773372;19797396;19811274;19834878;19841105;19845749;19863750;19876004;19884263;19885611;19888469;19899406;19913121;19913442;19914322;19916170;19952806;19955759;19965946;20004655;20010782;20096985;20145424;20150876;20152820;20157287;20164039;20172008;20180161;20184601;20185531;20188316;20194708;20195769;20298456;20338210;20339027;20367557;20376885;20379614;20382189;20411479;20421852;20453000;20466571;20468064;20472480;20503481;20509935;20517652;20537572;20553778;20580037;20581789;20585204;20586762;20595321;20602615;20616368;20628086;20688108;20734064;20734087;20804798;20813143;20858966;20861603;20920174;20921904;20945961;20963666;21040709;21047193;21050078;21075359;21113212;21121713;21165813;21169422;21176234;21178976;21195705;21225542;21274325;21274374;21294754;21318058;21340501;21345363;21349316;21354462;21358603;21368060;21370247;21386753;21419192;21448464;21449093;21453749;21453750;21458525;21458527;21459124;21459126;21474128;21478211;21502892;21504941;21539509;21554911;21565248;21598092;21614024;21616120;21616122;21667426;21667437;21693726;21722955;21742599;21761369;21782925;21784109;21804576;21855160;21889930;21906630;21924713;21930173;22005651;22067021;22074572;22143318;22167137;22171144;22174388;22180062;22252944;22260823;22300359;22306927;22311236;22315469;22366529;22369141;22441120;22442280;22477150;22481313;22523830;22544849;22588952;22601779;22611317;22632856;22632857;22632858;22635094;22657566;22706426;22740095;22763970;22869322;22876551;22936258;22954236;22954902;22974102;23029165;23056203;23076509;23084284;23142314;23147274;23179778;23257416;23257630;23296465;23313276;23321590;23333252;23391977;23415825;23430445;23485550;23489688;23509106;23524619;23567762;23571102;23584608;23632965;23652420;23702397;23724093;23728548;23744005;23744028;23768444;23816797;23865468;23867619;23950037;23964904;23965296;23971025;23981480;23994275;24001751;24011638;24012997;24083436;24098650;24106000;24111557;24132517;24155252;24184592;24190680;24194510;24217898;24240664;24260344;24285677;24302008;24341728;24350300;24367126;24388883;24388886;24415571;24433403;24438371;24919551;24922633 51738 A8DN24;E7ESW0;Q9UBU3 AB029434;AB035700;ABBA01020379;ABBA01020380;AC022384;AF296558;AJ252278;AMYH02006255;AY184207;AY359053;AY701846;BC025791;BM854032;CH471055;EF139854;EF139855;EF139856;EF139857;EF549557;EF549561;EF549562;EF549563;EF549564;EF549565;EF549566;EF549567;EF549569;EF549571;EF549572;EF549573;EF549574;EF549575;EU072083;EU072084;EU072085;EU072086;EU072087;HC084376;HC084384;NG_011560;NG_033090;NM_001134941;NM_001134944;NM_001134945;NM_001134946;NM_016362;NR_024132;NR_024133;NR_024134;NR_024135;NR_024136;NR_024137;NR_024138 AAG10300;AAH25791;AAO27351;AAQ89412;AAU93610;ABM81944;ABM85124;ABQ40356;ABQ40357;ABQ40358;ABQ40359;ABQ40360;ABQ40361;ABQ40362;ABV55186;ABV55187;ABV55188;ABV55189;ABV55190;BAA89371;BAB19045;CAB65733;CBI12214;CBI12216;EAW64074;EAW64075;EAW64076;NP_001128413;NP_001128416;NP_001128417;NP_001128418;NP_057446;Q9UBU3 Hs.590080;Hs.672979 1653892;1671030;2187753;2187871;2187873;2187875 G72347;G72348;G72349;G72355;RH36438;SHGC-34896 MTLRP OTTHUMP00000207790;OTTHUMP00000207791;OTTHUMP00000207792;OTTHUMP00000207793;OTTHUMP00000207794;OTTHUMP00000207795;OTTHUMP00000207796;OTTHUMP00000207797;OTTHUMP00000207798;OTTHUMP00000226986;appetite-regulating hormone;ghrelin precursor;ghrelin, growth hormone secretagogue receptor ligand;ghrelin/obestatin preprohormone;growth hormone secretagogue;growth hormone-releasing peptide;motilin-related peptide;obestatin;prepro-appetite regulatory hormone 2289503;2289518 BW443_H;BW454_H APPROVED protein-coding ENSG00000157017 HGNC:18129 05638 601665;605353 REVIEWED 69101 GH1 growth hormone 1 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 56382602 56384237 - 61994560 61996206 - 63917200 63918838 - 704404;1601312;1601313;1580863;2315674;2315659;2315655;2315681;2315684;2315685;2315658;2315682;2315688;2315653;2315650;6480464;6907045;7240710;8554872;8699517 1132599;15713716;17584969;19370419;19463895;2888037;2931155;3097114;3183302;3519044;6777392;7298798;9276733 10391209;10445339;10469016;10689634;10931946;11502836;11549663;11773624;11836331;11864603;11904318;11914025;11916628;11994274;12000366;12198566;12240900;12428212;12435888;12445833;12477932;12552091;12566947;12574219;12590639;12592062;12655556;12655557;12666876;12720086;12721156;12930995;1322425;14559725;14595650;14631161;14671660;14673137;14761840;14988388;14997482;14998943;15001589;15004410;15044591;15070916;15118263;15241820;15353581;15472182;15473132;15476590;15489334;1549776;15545704;15591149;15591764;15638293;15691369;15701573;15741328;15755445;15784718;15844470;15857837;15950665;16083754;16102809;16109534;16133148;16213174;16214911;16284391;16322331;16322384;16331968;1634529;16352683;16368751;16368752;16384844;16424673;16491012;16517055;16543404;16564564;16572267;16762973;16807684;16845601;16914737;17019066;17038549;17044098;17047377;17082888;17090643;17116217;17211256;17211558;17223997;17234973;17272397;17272398;17353931;17357792;17392003;17395896;17400806;17405836;17479231;17492509;17496728;17500058;17534663;17636034;17693614;17697029;17726075;17785368;17922505;17927666;17936052;17975128;17998942;18004746;18047908;18054353;18082739;18160466;18178497;18187617;18299463;18409193;18413425;18423883;18432585;18461004;18462969;18464752;18482854;18499741;18504173;18537700;18554279;18567523;18569023;18624627;18631396;18633341;18636124;18640775;18681778;18686625;18785993;18787048;18793862;18800374;18831980;18950677;18974274;18992148;19010462;19016004;19022915;19051037;19058314;19064544;19067728;19075184;19077426;19092717;19094740;19095751;19123788;19144755;19180878;19207478;19278522;19293581;19386527;19404232;19407495;19421410;19429121;19453261;19472088;19480608;19491373;19500600;19543094;19567515;19567534;19568604;19579232;19587145;19603307;19698976;19761807;19772878;19773097;19773279;19797429;1980158;19813164;19837935;19845749;19913121;19916171;19952226;19955757;19955758;20002733;20020582;20049531;20132087;20150954;20164039;20164294;20168335;20190159;20190537;20222001;20233782;20333869;20351314;20395397;20403354;20405138;20418654;20426845;20427283;20453000;20472479;20472480;20483505;20580999;20592127;20598930;20628086;20650818;20651469;20651471;20682777;20734064;20801067;20820130;20858702;20863500;21212012;21249719;21273694;21273761;21274339;21277631;21347581;21415161;21459126;21502796;21535073;21554434;21632809;21667426;21679697;21705979;21711161;21711374;21741628;21777655;2180927;21849508;21852148;21856788;21856789;21933221;21944866;21958002;22016154;22048966;22072432;22094313;22170795;22253814;22278170;22307889;22318747;22322534;22334636;22364960;22386777;22431516;22465725;22524398;22664570;22669946;22672824;22833680;22952901;22972178;23178941;23182822;23182825;23208451;23238889;23281720;23417163;23419423;23428872;23438236;23452315;23567159;23640965;23700319;23702397;23736291;23782942;23785020;23822620;23824909;23864592;24109593;24134847;24280222;24280736;24363451;24464925;24635352;24972779;2744760;2820841;2825030;3004851;3162714;3447173;377496;386281;3912261;4675454;5144027;5279046;5279528;5810834;6262212;6269091;6303755;6306568;6357679;7028740;7072716;7169009;7356479;7462247;7535773;7565946;7714096;7782332;7862673;7984244;8063815;8364549;8496314;8530604;8552145;8674830;8923468;8943276;9144201;9175738;9353194;9360546;9556914 2688 B1A4G6;B1A4G7;B1A4G9;B1A4H0;P01241 A00469;A12770;ABBA01035315;AC127029;AF110644;AF185611;AMYH02033784;AV749353;AV753220;AY613431;AY613432;BC062475;BC075012;BC075013;BC090045;CD108592;CH471109;EU421712;J03071;M13438;M14398;NG_011676;NM_000515;NM_022559;NM_022560;NM_022561;NM_022562;V00519;V00520;XM_005257218;XM_005257219 AAA52549;AAA52554;AAA98618;AAD48584;AAG09699;AAH62475;AAH75012;AAH75013;AAH90045;AAT11508;AAT11509;ABZ88711;ABZ88712;ABZ88713;ABZ88714;ABZ88715;CAA00065;CAA01057;CAA23778;CAA23779;EAW94233;EAW94239;EAW94251;EAW94261;NP_000506;NP_072053;NP_072054;NP_072055;NP_072056;P01241;XP_005257275;XP_005257276 Hs.655229 1680024;1694912;1733424;1777387;1791996;1791998;1794918;5014941;5491398 D17S1285;G44343;GHI;PMC134699P2;PMC134699P3;PMC84908P1;RH77971;RH93308;STS-J03756 GH;GH-N;GHN;IGHD1B;hGH-N pituitary growth hormone;somatotropin APPROVED protein-coding ENSG00000259384 HGNC:4261 00751 139250;173100;262400;262650;612781 REVIEWED 1349853 GIMAP5 GTPase, IMAP family member 5 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) gene. [provided by RefSeq, Dec 2010] 7 7 7 q36.1 144991531 144997796 + 150434436 150440737 + 150737348 150743649 + 619544;6480464;8554872 12097339 11238997;11814688;11964296;12477932;12690205;12925764;14702039;14724691;15474311;15489334;17220214;17369194;17641683;19762377;20190135;20237496;20817506;21832049;22190034;22505724;23098229;24816145 55340 Q96F15 AACC02000108;ABBA01035176;AC006479;AK002158;AK055568;AK297881;AL080068;AL557446;AMYH02017061;AV762634;BC011732;BC033688;CA431916;CH471173;CR457280;NM_018384 AAH11732;ADZ16061;BAA92115;BAB70958;BAG60204;CAG33561;EAL24486;EAW54092;EAW54093;EAW54094;NP_060854;Q96F15 Hs.647079;Hs.698139 1677198;1769122;1796038 D7S2911;IAN4L1_998;RH98738 FLJ11296;HIMAP3;IAN-5;IAN4;IAN4L1;IAN5;IMAP3;IROD;hIAN5 GTPase IMAP family member 5;OTTHUMP00000212269;immune associated nucleotide 4 like 1;immune-associated nucleotide-binding protein 5;immunity associated protein 3;immunity-associated nucleotide 4-like 1 protein;immunity-associated nucleotide 5 protein;immunity-associated protein 3;inhibitor of radiation- and OA-induced apoptosis, Irod/Ian5 APPROVED protein-coding ENSG00000196329 HGNC:18005 16280 608086 REVIEWED 1346525 GIMAP2 GTPase, IMAP family member 2 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 144939889 144947829 + 150382690 150390729 + 150685706 150693641 + 1303371;1580863;6480464;8554872 15474311 11814688;12477932;12690205;15489334;17207965;20237496;20516611 26157 C9JND7;Q9UG22 AACC02000108;ABBA01035177;ABBA01035178;AC006479;AK074199;AL110151;AMYH02017060;BC013934;BC032345;BG687383;CH471173;NM_015660 AAH13934;AAH32345;ADQ31716;CAB53662;EAL24484;EAW54096;EAW54097;EAW54098;EAW54099;NP_056475;Q9UG22 Hs.647071 1774641;2186204 G29246;STS-T96157 DKFZp586D0824;HIMAP2;IAN12;IMAP2;MGC24275 GTPase IMAP family member 2;OTTHUMP00000212217;immune-associated nucleotide-binding protein 12;immunity associated protein 2;immunity-associated protein 2 APPROVED protein-coding ENSG00000106560 HGNC:21789 16279 608085 REVIEWED 6770684 GIMD1 GIMAP family P-loop NTPase domain containing 1 ENCODES a protein that exhibits GTP binding (inferred); INTERACTS WITH indole-3-methanol (ortholog); orphenadrine (ortholog); thioacetamide (ortholog) 4 4 4 q24 104578559 104702257 - 107279340 107288592 - 106358183 106367435 - 6480464 9847074 100507096 P0DJR0 ABBA01063740;AC092458;AC093680;AMYH02009856;DN831977;NM_001195138 NP_001182067;P0DJR0 Hs.722750 1339601;1707674;2161803 D4S1531;G33462;SHGC-82007 GIMAP family P-loop NTPase domain-containing protein 1;GTPase IMAP family member GIMD1 protein-coding HGNC:44141 PROVISIONAL 1351937 GIMAP4 GTPase, IMAP family member 4 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 144821534 144828117 + 150264458 150271043 + 150567370 150573955 + 1303371;1580863;6480464 15474311 10737800;11814688;11964296;12477932;12690205;14702039;15489334;16509771;17207965;18029348;18701445;20237496;21832049;22505724;23041938;24816145;9828130 55303 C9IZQ3;G5E9W9;Q9NUV9 AACC02000108;ABBA01035184;ABBA01035185;AC069304;AF117333;AJ227872;AK001972;AK301441;AK301606;AMYH02017059;AW836736;BC020657;BC020776;BX476689;CH471173;CQ834256;NM_018326;XM_005250017;XM_005250018 AAH20657;AAO15308;ADQ32175;BAA92010;BAG62967;BAG63092;CAH05343;EAL24482;EAW54103;EAW54104;NP_060796;Q9NUV9;XP_005250074;XP_005250075 Hs.647101;Hs.648582 1677750;5091404 RH45110;RH93861 FLJ11110;HIMAP4;IAN-1;IAN1;IMAP4;MSTP062;hIAN1 GTPase IMAP family member 4;OTTHUMP00000212208;OTTHUMP00000212209;OTTHUMP00000212212;human immune associated nucleotide 1;immune-associated nucleotide-binding protein 1;immunity associated protein 4;immunity-associated nucleotide 1 protein;immunity-associated protein 4 APPROVED protein-coding ENSG00000133574 HGNC:21872 16281 608087 REVIEWED 1348237 GINGF2 gingival fibromatosis, hereditary, 2 ASSOCIATED WITH Fibromatosis, Gingival, 2 (inferred) 7240710 11386754 64644 1341638 D5S1721 HGNC:14252 605544 1343694 GIMAP7 GTPase, IMAP family member 7 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 144769018 144775251 + 150211945 150218161 + 150514857 150521073 + 1303371;1580863;6480464;8554872 15474311 11814688;11964296;12477932;12690205;15489334;20237496;22505724;23454188 168537 Q8NHV1 AA854865;AACC02000108;ABBA01035185;AC069304;AC092025;AMYH02017058;BC006010;BC027613;BX440511;CH471173;NM_153236 AAH27613;ABM81865;ABW03335;EAL24481;EAW54105;EAW54106;NP_694968;Q8NHV1 Hs.647074 IAN-7;IAN7;MGC27027;hIAN7 GTPase IMAP family member 7;OTTHUMP00000212309;immune associated nucleotide;immune-associated nucleotide-binding protein 7;immunity-associated nucleotide 7 protein APPROVED protein-coding ENSG00000179144 HGNC:22404 17039 REVIEWED 1605108 GINS1 GINS complex subunit 1 (Psf1 homolog) The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008] 20 20 20 p11.21 25462070 25502910 + 25388323 25429191 + 25407687 25448555 + 6480464;8554872 10942595;11780052;12477932;15489334;16287864;17127213;17417653;20103637;20825491;21139048;21705323;21713706;21890473;21906983;21963094;22001757;22505724;22939629;23390603;24816145;8724849 9837 Q14691 ABBA01048718;ABBA01048719;ABBA01048720;AK294593;AL031672;AL353812;AMYH02036850;BC012542;CH471133;D80008;NM_021067;XM_005260896;XM_006723670;XR_244226;XR_244227 AAH12542;BAA11503;BAG57781;EAX10087;NP_066545;Q14691;XP_005260953;XP_006723733 Hs.658464 1659810;1681346;1682746;5022200 L18426;RH25400;RH38952;SHGC-52794 KIAA0186;PSF1;RP4-691N24.2 DNA replication complex GINS protein PSF1;OTTHUMP00000030496;partner of sld five-1 APPROVED protein-coding ENSG00000101003 HGNC:28980 11067 610608 VALIDATED 1320268 GINM1 glycoprotein integral membrane 1 FOUND IN extracellular vesicular exosome; INTERACTS WITH (+)-catechin; benzo[a]pyrene diol epoxide I; paracetamol 6 6 6 q25.1 150622574 150647109 + 149887528 149912067 + 149566392 149590931 + 6480464 12477932;12975309;14574404;15489334;21139048;21890473;21906983;21963094;23000965;24250222 116254 Q5TFA5;Q9NU53 ABBA01025678;AK289402;AK295690;AK308844;AK308994;AK311061;AK315729;AL078581;AMYH02014693;AMYH02014694;AMYH02014695;AY358952;BC014320;CH471051;NM_138785 AAH14320;AAQ89311;BAF82091;BAG38084;BAH12157;EAW47796;EAW47797;EAW47798;NP_620140;Q9NU53 Hs.438872 2151495;5022200;5106643 A008Y20;L18426;RH46830 C6orf72;dJ12G14.2 OTTHUMP00000017395;glycoprotein integral membrane protein 1;hypothetical protein LOC116254;uncharacterized protein C6orf72 APPROVED protein-coding HGNC:21074 12896 PROVISIONAL 1602113 GINS2 GINS complex subunit 2 (Psf2 homolog) The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008] 16 16 16 q24.1 70014391 70025701 - 85711280 85722588 - 85677674 85688982 - 6480464 10810093;11042152;12477932;12730134;14702039;15489334;16189514;17207965;17525332;17623298;21082043;21109493;21139048;21705323;21890473;21906983;21963094;22474384;22505724;22863883;22939629;23589040;24273454;8125298 51659 M0QXS3;M0R043;Q9Y248 ABBA01034276;AC123908;AF125098;AF151880;AF201939;AK001275;AK091519;AK223123;AMYH02032595;BC003186;BC010164;BC022839;BC062444;BE514978;CH471114;CR457186;HB868338;HB885265;HB889301;HB900781;HC925747;HC942674;HC946710;HC958190;KC877621;NM_016095 AAD34117;AAD39915;AAF86875;AAH03186;AAH10164;AAH62444;ADQ31670;BAA91595;BAD96843;CAG33467;CBF58147;CBF66838;CBF68783;CBF79669;CBU83582;CBU91711;CBU93657;CBU99138;EAW95443;EAW95444;NP_057179;Q9Y248 Hs.433180 1712292;1848478;2109719 G54055;Pfs2_9748;STS-W81647 HSPC037;PSF2;Pfs2 DNA replication complex GINS protein PSF2;OTTHUMP00000175001 APPROVED protein-coding HGNC:24575 15197 610609 VALIDATED 1603796 GIMAP6 GTPase, IMAP family member 6 This gene encodes a member of the GTPases of immunity-associated proteins (GIMAP) family. GIMAP proteins contain GTP-binding and coiled-coil motifs, and may play roles in the regulation of cell survival. Decreased expression of this gene may play a role in non-small cell lung cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is found in a cluster with seven additional GIMAP genes on the long arm of chromosome 7. [provided by RefSeq, Sep 2011] 7 7 7 144879549 144886767 - 150322463 150329736 - 150625375 150632648 - 6480464;8554872 11814688;11964296;12477932;12690205;14702039;15474311;16344560;18462827;20237496;21832049;23333304 474344 B4DH95;Q6P9H5 AACC02000108;ABBA01035179;ABBA01035180;AC069304;AJ580952;AK026343;AK026396;AK074044;AK294989;AK300445;AK308110;AK314667;AL541003;AMYH02017059;BC060760;BC069461;BC074744;CH471173;CR749355;DA398401;DA582331;DC384795;NM_001244071;NM_001244072;NM_024711 AAH60760;AAH74744;BAB15455;BAB84870;BAG37224;BAG58056;BAG62167;CAE45757;CAH18208;EAL24483;EAW54100;EAW54101;EAW54102;NP_001231000;NP_001231001;NP_078987;Q6P9H5 Hs.647105 1679982 RH94149 DKFZp686A01175;FLJ22690;IAN-2;IAN-6;IAN2;IAN6;hIAN2;hIAN6 GTPase IMAP family member 6;OTTHUMP00000214148;OTTHUMP00000214149;human immune associated nucleotide 2;immune associated nucleotide 2;immune associated nucleotide 6;immune-associated nucleotide-binding protein 6;immunity-associated nucleotide 2 protein;immunity-associated nucleotide 6 protein APPROVED protein-coding ENSG00000133561 HGNC:21918 13576 REVIEWED 1344762 GIMAP8 GTPase, IMAP family member 8 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 144705070 144733588 + 150147748 150176483 + 150450660 150479395 + 1303371;1580863;6480464;8554872 15474311 11814688;11964296;12477932;12690205;14702039;16103028;18029348;20237496;20379614;21832049 155038 Q8ND71 AACC02000108;ABBA01035185;AC073111;AJ633686;AK057969;AK098320;AK314426;AL834361;AMYH02017058;AW236696;BC107037;BM906208;CH471173;NM_175571;XM_005249950;XM_005249951;XM_006715858 AAI07038;CAD39025;CAG17881;EAL24479;EAW54107;EAW54108;NP_783161;Q8ND71;XP_005250007;XP_005250008;XP_006715921 Hs.647121 1857220 SHGC-37691 DKFZp667I133;IAN-9;IAN6;IAN9;IANT;MGC129545;hIAN6 GTPase IMAP family member 8;OTTHUMP00000212804;human immune associated nucleotide 6;immune associated nucleotide;immune-associated nucleotide-binding protein 9 APPROVED protein-coding ENSG00000171115 HGNC:21792 13577 REVIEWED 1604313 GINS3 GINS complex subunit 3 (Psf3 homolog) This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 16 16 16 q21 42926079 42939099 + 58426298 58440048 + 58392394 58406144 + 6480464 12477932;12730134;14702039;15342556;16344560;16990792;17127213;17170760;17417653;17545466;17557111;17652513;19305408;19652097;20059967;21139048;21705323;21890473;21963094;22863883;22939629;23127337;24816145 64785 Q9BRX5 ABBA01025303;AC009118;AK023974;AK127454;AK315622;AL137379;AMYH02032118;BC005879;BC014437;BP374281;CH471092;CR457283;DA550725;NM_001126129;NM_001126130;NM_022770 AAH05879;AAH14437;ADZ16084;BAB14747;BAG37990;CAG33564;EAW82973;EAW82974;EAW82975;EAW82976;NP_001119601;NP_001119602;NP_073607;Q9BRX5 Hs.47125;Hs.605546 1666819;1688680;1857891;5016781 RH48758;RH65173;SHGC-60594;SHGC-67307 FLJ13912;PSF3 DNA replication complex GINS protein PSF3;OTTHUMP00000164722 APPROVED protein-coding ENSG00000181938 HGNC:25851 07842 610610 REVIEWED 1601940 GINS4 GINS complex subunit 4 (Sld5 homolog) The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008] 8 8 8 p11.21 40335805 40351649 + 41386725 41402565 + 41529206 41545046 + 6480464;8554872 12477932;14702039;16189514;17417653;18854154;21139048;21705323;21890473;22863883;22939629;22952844 84296 E5RFF9;E5RH56;Q9BRT9 ABBA01021131;ABBA01021132;AC009630;AK095334;AK299207;AK313373;AMYH02017877;BC005995;BC027454;CH471080;DC376966;NM_032336;XM_005273659 AAH05995;AAH27454;BAG36172;BAG53029;BAG61247;EAW63256;EAW63257;NP_115712;Q9BRT9;XP_005273716 Hs.656996 1697098;5015861;5022200;5022578;5022651;5037552;5117897;7185938 D10S16;D11S2921;D1S1423;D8S2279;GDB:631813;L18426;RH102031 MGC14799;SLD5 DNA replication complex GINS protein SLD5;OTTHUMP00000225812;OTTHUMP00000225813;SLD5 homolog APPROVED protein-coding ENSG00000147536 HGNC:28226 11583 610611 VALIDATED 1353884 GIP gastric inhibitory polypeptide This gene encodes an incretin hormone and belongs to the glucagon superfamily. The encoded protein is important in maintaining glucose homeostasis as it is a potent stimulator of insulin secretion from pancreatic beta-cells following food ingestion and nutrient absorption. This gene stimulates insulin secretion via its G protein-coupled receptor activation of adenylyl cyclase and other signal transduction pathways. It is a relatively poor inhibitor of gastric acid secretion. [provided by RefSeq, Jul 2008] 17 17 17 q21.3-q22 43490595 43500198 - 47035918 47045955 - 48958556 48968593 - 1580863;2312547;2312548;2312549;2312588;2312587;2312591;2312529;2312592;2312551;2312550;2312553;2312589;2312590;2312554;6480464;7240710;8699517;8554872 12789546;18063845;18376350;18937625;19056762;19126188;19174495;19375579;19473824;3546047;3892654;6140913;8059006;9030821 11820780;12036966;12138104;12477932;12530693;12530694;12627975;14988249;15220248;15383372;15489334;15522230;15533777;15655707;15899957;15955806;16010522;16142014;17207965;17244606;17609256;17624916;18054552;18240029;18593849;19229515;19351807;19748889;20008019;20061446;20138041;20200305;20424473;20468064;20580750;20673334;20799012;20800603;20978139;21378990;21539943;21815989;22179810;22301939;22319034;22349073;22391044;22422137;23064014;23092914;23485142;23663508;23864340;24018562;24507870;24525020;2739653;2890159;6745415;7589426;8795084 2695 P09681 ABBA01041184;ABBA01041185;AC091133;AMYH02033555;AMYH02033556;BC069100;BC069663;BC069686;BC069746;BC096146;BC096147;BC096148;BC096149;CH471109;E02006;M18185;M31679;NM_004123 AAA53192;AAA88043;AAH69100;AAH69663;AAH69686;AAH69746;AAH96146;AAH96147;AAH96148;AAH96149;ADQ32948;EAW94697;NP_004114;P09681 Hs.1454 2145231;5119685 D17S1971;GDB:178574 OTTHUMP00000219839;glucose-dependent insulinotropic polypeptide;incretin hormone APPROVED protein-coding ENSG00000159224 HGNC:4270 15925 137240;192605 REVIEWED 1603218 GIN1 gypsy retrotransposon integrase 1 ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN DNA integration (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; copper(2+) sulfate 5 5 5 q21.1 98369538 98403680 - 102421704 102455842 - 103086000 103120155 - 6480464;8554872 11470852;12477932;16189514;16344560;20379614;21906983;8125298 54826 Q9NXP7 ABBA01069149;AC008447;AK000132;AK225572;AK295796;AMYH02011880;BC015325;BC151135;BC157835;CH471086;CR627424;DB101499;NM_017676;XM_005272028;XM_005272029;XM_005272030;XM_006714655 AAH15325;AAI51136;AAI57836;ADZ15850;BAA90963;BAG58616;CAH10511;EAW49080;EAW49081;NP_060146;Q9NXP7;XP_005272085;XP_005272086;XP_005272087;XP_006714718 Hs.24088 2142647;2177235 SGC30489;STS-H23482 FLJ20125;GIN-1;TGIN1;ZH2C2 OTTHUMP00000222701;Ty3/Gypsy integrase 1;gypsy integrase 1;gypsy retrotransposon integrase-like protein 1;zinc finger H2C2 domain-containing protein;zinc finger, H2C2 domain containing protein-coding ENSG00000145723 HGNC:25959 07878 VALIDATED 1603220 GIPC2 GIPC PDZ domain containing family, member 2 FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; arsenite(3-); benzo[a]pyrene 1 1 1 p31.1 76750654 76842166 + 78510646 78604129 + 78044962 78138445 + 6480464 11836570;12011974;12477932;14702039;15489334;16169070;17207965;18978678;19056867;20881960;8125298 54810 Q8TF65 AB073737;ABBA01074392;ABBA01074393;AC093118;AC103591;AC247047;AK000082;AK225941;AK307422;AMYH02001309;BC036075;BI561167;CH471059;NM_017655;XM_005270956;XM_005270957;XM_005270958 AAH36075;ADQ32324;BAA90933;BAB84711;EAX06353;NP_060125;Q8TF65;XP_005271013;XP_005271014;XP_005271015 Hs.659356 1704746;1850551;2109347 GIPC2_9824;SHGC-75055;SHGC-79654 FLJ20075;SEMCAP-2;SEMCAP2 OTTHUMP00000038608;PDZ domain protein GIPC2;PDZ domain-containing protein GIPC2;semaF cytoplasmic domain associated protein 2;semaphorin cytoplasmic domain associated protein 2 protein-coding HGNC:18177 17040 VALIDATED 733913 GIPC1 GIPC PDZ domain containing family, member 1 GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009] 19 19 19 p13.1 14482692 14501043 - 14588571 14606961 - 14477759 14496149 - 68252;1580863;6480464;6484113 9770488 10198040;10318831;10414980;10827173;10911369;10965131;11251075;11441007;11445579;11479315;11546783;11798178;11852236;11912251;11956658;12011974;12477932;12508107;12724327;12857860;12893809;14499480;14507927;14617818;14702039;15231747;15304335;15356268;15459234;15489334;15767424;15819698;15978582;16225848;16240642;16316992;16341674;16908842;16962991;17353931;18314626;18330356;18721484;18721486;18775991;19016655;19056867;19855435;19913121;19946888;20091192;20628086;20634288;21047775;21139048;21209904;21247498;21291857;21432940;21890473;21900206;21906983;21963094;22053931;22082268;22505724;22593212;22939629;23000965;23128896;23145131;24163370;8895530;8986788;9482110 10755 A8K2I7;K7EIT0;K7EJ33;K7ELJ2;K7EM11;K7ESN1;O14908 ABBA01029665;ABBA01029666;AC008569;AC012318;AF028824;AF089816;AI589363;AK022585;AK093820;AK290252;AK290948;AMYH02035621;BC000410;BC004226;BC012810;BC016169;BI489862;BM764000;BX439219;CB997520;CH471106;CR986168;NM_005716;NM_202468;NM_202469;NM_202470;NM_202494;U46448 AAB84249;AAC67548;AAH00410;AAH04226;AAH12810;AAH16169;ABM85465;BAF82941;BAF83637;EAW84423;EAW84424;EAW84425;EAW84426;EAW84427;EAW84428;EAW84429;EAW84430;EAW84431;NP_005707;NP_974197;NP_974198;NP_974199;NP_974223;O14908 Hs.655012;Hs.741240 1774583;2109755;2117995 G29335;RGS19IP1_9175;STS-W73036 C19orf3;GIPC;GLUT1CBP;Hs.6454;IIP-1;MGC15889;MGC3774;NIP;RGS19IP1;TIP-2 GAIP C-terminus-interacting protein;GLUT1 C-terminal binding protein;IGF-1 receptor interacting protein 1;PDZ domain-containing protein GIPC1;RGS-GAIP-interacting protein;RGS19-interacting protein 1;SEMCAP;SYNECTIIN;SYNECTIN;regulator of G-protein signalling 19 interacting protein 1;regulator of g-protein signaling 19 interacting protein 1;tax interaction protein 2 APPROVED protein-coding ENSG00000123159 HGNC:1226 05462 605072 VALIDATED 1349380 GIMAP3P GTPase, IMAP family member 3 pseudogene 7 7 7 q36.1 145001088 145001914 - 150444013 150444819 - 150746925 150747731 - 1303371 15474311 474345 ABBA01035176;AC006479;AJ580951;AMYH02017061;NG_026525 GIMAP3;IAN4P pseudo HGNC:30975 INFERRED 1606469 GIPC3 GIPC PDZ domain containing family, member 3 The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011] 19 19 19 p13.3 3522390 3530377 + 3585557 3593539 + 3585559 3593541 + 6480464;7240710;8554872;8699517 11836571;12011974;12477932;14702039;15057824;15489334;17525332;17690910;18066515;18950845;21139048;21326233;21660509;23510777;9286457 126326 Q8TF64 AB073738;ABBA01002834;ABBA01002835;AC005175;AC116968;AK098244;AMYH02035259;BC117312;BC117314;BX648927;CH471139;NG_031943;NM_133261;XM_005259492 AAC24304;AAI17313;AAI17315;BAB84712;EAW69304;NP_573568;Q8TF64;XP_005259549 Hs.266873 C19orf64;DFNB15;DFNB72;DFNB95;DKFZp686J1198;FLJ40925 OTTHUMP00000235917;PDZ domain protein GIPC3;PDZ domain-containing protein GIPC3 APPROVED protein-coding ENSG00000179855 HGNC:18183 16386 601869;608792 REVIEWED 732777 GIPR gastric inhibitory polypeptide receptor This gene encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated glucose. Mice lacking this gene exhibit higher blood glucose levels with impaired initial insulin response after oral glucose load. Defect in this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011] 19 19 19 q13.3 42977625 42991837 + 46171490 46185717 + 45668244 45682459 + 737714;737713;1580863;2312618;2312617;2312454;2312603;2312548;2312605;2312615;2312616;2306734;68929;2312612;6480464;8554872 10611300;11334402;12068290;12789546;1557958;15582721;17395281;17505054;17624916;17971513;19211686;19254363;19386626 10698169;10698200;12036966;12477932;12530665;12530694;12627975;12721154;15057824;15111503;15489334;15655707;15666829;16087722;17121608;18240029;18577758;18971217;19195718;20061446;20081857;20185807;20424473;20516203;20799012;20935630;21554434;21789219;22027838;22112810;22237064;22344219;22344221;22399504;22412906;22589738;22889411;22956255;23563607;23689510;24086540;24238043;24446656;24512489;24565507;7490109;7556958;7589426;8243312;8575774;8795084;9709947 2696 K7EJZ3;K7EPD9;P48546 ABBA01040941;ABBA01040942;AC006132;AC007191;AMYH02036207;BC093723;BC095494;BC101673;BC143300;BC143302;CH471126;D49559;NM_000164;S79852;U39231 AAA84418;AAB35419;AAC97984;AAD22674;AAH93723;AAH95494;AAI01674;AAI43301;BAA08503;EAW57371;EAW57372;NP_000155;P48546 Hs.658534 1672091;1847731;1849808;2145729 G07764;RH18050;RH79151;SHGC-35658 GIP-R;MGC126722;PGQTL2 gastric inhibitory peptide receptor;glucose-dependent insulinotropic polypeptide receptor APPROVED protein-coding ENSG00000010310 HGNC:4271 00670 137241 VALIDATED 1351768 GJA2 gap junction protein, alpha 2, 38kDa (connexin 38) 2699 HGNC:4276 1352663 GJA1P1 gap junction protein, alpha 1, 43kDa pseudogene 1 5 5 5 q21.3 104324987 104328061 - 108385283 108388368 - 109049582 109052667 - 11741837;1646158 2698 ABBA01069094;AC010228;AMYH02011946;M65189;NG_003029;NG_011445 1686352;1854144;2113816 GJA1;RH27497;WI-6988 gap junction protein, alpha 1, 43kda (connexin 43) pseudogene 1 pseudo HGNC:4275 INFERRED 1603289 GJA10 gap junction protein, alpha 10, 62kDa Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] 6 6 6 q15-q16 91024729 91026360 + 90604188 90605819 + 89894469 89896100 + 6480464;8554872 12881038;19773279 84694 Q969M2 ABBA01040545;AF296766;AJ414565;AL353692;AMYH02014093;CH471051;NM_032602 AAI40394;AAI46475;AAK51676;CAC93847;EAW48537;NP_115991;Q969M2 Hs.334499 2219782;5493053 CX62_4660;UniSTS:484070 CX62;RP11-63K6.6 OTTHUMP00000016858;connexin 62;connexin-62;gap junction alpha-10 protein APPROVED protein-coding ENSG00000135355 HGNC:16995 13104 611924 VALIDATED 1345420 GIT2 G protein-coupled receptor kinase interacting ArfGAP 2 This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008] 12 12 12 q24.1 109991955 110058428 - 110367607 110434194 - 109929802 109996389 - 68782;1580863;6480464;6907045;8554872 9826657 10330411;10428811;10788515;10896954;10942595;11157752;11251077;12168954;12473661;12477932;14702039;15144186;15212761;15324660;15489334;15592455;16501306;16598076;16628223;17081983;17353931;17567985;20467438;20694148;21988832;22939629;23319000;23591815;23864433;24250222;24816145;8125298;8590280 9815 F8VXI9;F8W822;F8WAK2;Q14161;Q6FI58;R4GNG3 AB451294;AB451428;ABBA01005081;ABBA01005082;ABBA01005083;ABBA01005084;AC084876;AF124491;AK057814;AK090652;AK091325;AK125441;AK222736;AK303198;AK304240;AK308304;AMYH02027175;AMYH02027176;BC001379;BC014223;BC039880;BM557270;BP871813;BT007312;CH471054;CR533568;CR749340;D63482;NG_029885;NM_001135213;NM_001135214;NM_014776;NM_057169;NM_057170;NM_139201;XM_005253997;XM_005254000;XM_006719707;XM_006719708;XM_006719709;XM_006719710;XM_006719711;XM_006719712;XM_006719713;XM_006719714 AAD28047;AAH01379;AAH14223;AAP35976;BAA09769;BAD96456;BAG64289;BAG65109;BAG70108;BAG70242;CAG38599;CAH18193;EAW97885;EAW97886;EAW97887;EAW97888;EAW97889;EAW97890;NP_001128685;NP_001128686;NP_055591;NP_476510;NP_476511;NP_631940;Q14161;XP_005254054;XP_005254057;XP_006719770;XP_006719771;XP_006719772;XP_006719773;XP_006719774;XP_006719775;XP_006719776;XP_006719777 Hs.434996 1684315;1701564;1720635;1732325;1760853;1792990;1855053;2149854;2158622;2176469;5022200;5037552 D12S1178E;D12S161;D8S2279;G17616;G59127;L18426;PMC179881P3;RH104415;RH11171;RH25369;RH78517;SHGC-144522 CAT-2;CAT2;DKFZp686G01261;KIAA0148;MGC760 ARF GAP GIT2;ARF GTPase-activating protein GIT2;G protein-coupled receptor kinase interactor 2;G protein-coupled receptor kinase-interactor 2;GRK-interacting protein 2;OTTHUMP00000240739;OTTHUMP00000240740;OTTHUMP00000240741;OTTHUMP00000240742;OTTHUMP00000240743;OTTHUMP00000240749;OTTHUMP00000240750;cool-associated, tyrosine phosphorylated protein 2;cool-interacting tyrosine-phosphorylated protein 2 APPROVED protein-coding ENSG00000139436 HGNC:4273 09779 608564 REVIEWED 2291775 GJA6P gap junction protein, alpha 6, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) X X X p22 22673256 22674358 + 18553158 18554260 + 18535038 18536140 + 6480464 15611570 100126825 ABBA01071655;AMYH02038952;NG_007152;NG_008475;Z92542 pseudo HGNC:32542 INFERRED 736164 GJA5 gap junction protein, alpha 5, 40kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008] 1 1 1 q21.1 121738476 121755641 + 147228332 147253165 - 147756199 147781054 - 1580393;1580398;704404;1580863;6480464;7207474;7207847;7207851;7207391;7207390;7207466;7207848;7207417;7207415;7207423;7207464;7207815;7207850;7240710;8699517;8554872 11422751;11527649;11821709;12644912;15381756;15942348;16790700;17855776;18324386;19077877;19686729;20609064;21895483;22199024;22945766 10336839;10581143;10728420;10792506;10873295;11557558;11866539;12064615;12397213;12435353;12477932;12594044;1310450;14766937;15094345;15117819;15193866;15297374;15489334;16188595;16189514;16361362;16508580;16545451;16600287;16646598;16710414;16814413;17189315;17546509;17922338;19490996;19494781;1964417;19808665;19913121;20125193;20530971;20628086;20650941;20818502;20831043;21076161;21424225;21649591;21988832;22021330;22247482;22405441;22422398;22423256;22713807;23040431;23134779;23292621;23348765;23579271;23819010;24060583;24722188;7877871;7966354;8561862;8889548;9119381;9523149;9617570 2702 P36382;X5D2H9 ABBA01004402;AC241644;AF074995;AF151979;AL365260;BC013313;BM970701;BQ231177;BQ924948;BT019415;BT019416;BX377692;CH471223;DR003194;KJ534844;L34954;NG_009369;NM_005266;NM_181703;U03486;XM_005272951 AAA60457;AAA91833;AAD37801;AAH13313;AAV38222;AAV38223;ABM82815;ABM86001;AHW56484;CAI14124;CAI14125;EAW50929;EAW50930;NP_005257;NP_859054;P36382;XP_005273008 Hs.447968 2150179;2186954 RH69491;RH71190 ATFB11;CX40;MGC11185 OTTHUMP00000015905;OTTHUMP00000015906;connexin 40;connexin-40;gap junction alpha-5 protein;gap junction membrane channel protein alpha 5;gap junction protein alpha 5 40kDa APPROVED protein-coding ENSG00000265107 HGNC:4279 08699 108770;121013;614049 REVIEWED 1353099 GJA9 gap junction protein, alpha 9, 59kDa Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] 1 1 1 p34 37618374 37625924 - 39339739 39347298 - 38874067 38881626 - 1580863;6480464;8554872 11941580;12477932;12881038;15489334;20379614;20979653;21706016;24250222;8889548 81025 C9IYK1;P57773 ABBA01023236;ABBA01023237;ABBA01023238;ABBA01023239;AF179597;AF271261;AK312811;AL139260;AL705384;AMYH02000821;BI463634;BU689816;CH471059;NM_030772 AAG09406;AAK55516;BAG35669;EAX07289;NP_110399;P57773 Hs.591506 1795918;2191221 GJA10_965;MARC_16382-16383:1017773463:1 CX58;CX59;GJA10;MGC50985 OTTHUMP00000000542;connexin 59;connexin-58;connexin-59;gap junction alpha 10;gap junction alpha-10 protein;gap junction alpha-9 protein APPROVED protein-coding ENSG00000131233 HGNC:19155 13578 611923 VALIDATED 1349664 GJA3 gap junction protein, alpha 3, 46kDa The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010] 13 13 13 q12.11 1774203 1796991 - 20712394 20735524 - 20138255 20161385 - 1599824;1580863;6480464;7240710;8554872;8699517 16271086 10205266;10746562;11739633;11980479;12477932;12808044;14627959;15057823;15208569;15286166;15467523;15489334;16254549;16885921;16971895;17492548;17615540;17893674;1849321;1964417;20013805;20431721;21031021;21386927;21552498;21606502;21647269;21681855;21897748;21906983;22312188;22550389;22825713;22843197;22864933;22876138;23302783;23374644;23592915;24019978;24319337;24772942;7342922;9199569;9413992;9664032 2700 Q9Y6H8 ABBA01068576;AF075290;AL138688;AMYH02027634;AMYH02027635;BC121137;BF726530;CH471075;DR003755;NG_016399;NM_021954;XM_005266353 AAD42925;AAI21138;EAX08251;NP_068773;Q9Y6H8;XP_005266410 Hs.130313 1730568;5493981 D13S141;UniSTS:480636 CTRCT14;CX46;CZP3 OTTHUMP00000205445;connexin 46;connexin-46;gap junction alpha-3 protein;gap junction protein, alpha 3, 46kda (connexin 46) APPROVED protein-coding ENSG00000121743 HGNC:4277 00415 121015;601885 REVIEWED 732563 GJA8 gap junction protein, alpha 8, 50kDa This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009] 1 1 1 q21.1 121602609 121609059 - 147374946 147381396 + 147902820 147909269 + 1598963;704409;1580863;6480464;7240710;8554872;8699517 11125071;9497259 11023900;11944087;12107413;12808044;1491428;15696487;16397066;16604058;16740131;17412882;17546509;17601931;17724170;18006672;18247306;18334946;18334966;18483562;18587493;19684000;19756179;20019893;20582632;20597646;20806042;21174522;21228318;21378309;21386927;21423869;21686328;21921990;21965293;23555834;23592913;23720739;24005045;24722188;396131;7796604;8549164;8889548;9479004;9664032 2703 P48165;X5D7G1 ABBA01004402;AC239801;AF217524;AI364417;AL445591;BQ184886;CD674975;CH471223;DB476698;KJ534845;NG_016242;NM_005267;U34802 AAA77062;AAF32309;AAI40364;AAI46508;AHW56485;CAH72387;EAW50926;NP_005258;P48165 Hs.632441 1793170;2190805 GJA8;PMC197251P4 CAE;CAE1;CTRCT1;CX50;CZP1;MP70 OTTHUMP00000025757;cell surface glycoprotein;connexin 50;connexin-50;gap junction alpha-8 protein;gap junction membrane channel protein alpha 8;gap junction membrane channel protein alpha-8;gap junction protein alpha 8 50kDa;lens fiber protein MP70;lens intrinsic membrane protein MP70 APPROVED protein-coding HGNC:4281 02939 116200;600897 REVIEWED 1347813 GJB3 gap junction protein, beta 3, 31kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 1 1 1 p34 33520514 33525691 + 35246790 35251967 + 34781189 34786366 + 1300214;1580863;6480464;7240710;7364900;8554872;8699517 19050930;9843210 10587579;10594760;10757647;10790215;10798362;11309368;12019212;12154091;12165562;12176042;12477932;12630965;12702148;14583444;15276679;15489334;16077902;16297190;16341674;16406239;16549784;16710414;17207965;17672988;18338563;18607988;18809214;18988928;19027966;19254696;19523148;19558834;19744334;19755382;19814620;19864490;20301449;20301607;20593197;20627047;20668687;21055240;21198793;21906983;21916817;21950330;21988832;22393412;22617145;22681493;23638949;23678955;8035838;9126484;9704026;9843209 2707 A1YRJ5;O75712 ABBA01023362;AF052692;AF099730;AJ004856;AK026139;AK312890;AL121988;AL547036;AMYH02000748;BC012918;BC110640;BE673240;BM763034;BM846348;CH471059;NG_008309;NM_001005752;NM_024009 AAC95471;AAD11816;AAH12918;AAI10641;ADQ31582;BAG35737;CAA06165;EAX07442;NP_001005752;NP_076872;O75712 Hs.522561 1795922;2115936 GJB3_971;SHGC-74581 CX31;DFNA2;DFNA2B;EKV;FLJ22486;MGC102938 OTTHUMP00000004183;OTTHUMP00000004184;connexin 31;connexin-31;gap junction beta-3 protein;gap junction protein, beta 3, 31kda (connexin 31) APPROVED protein-coding ENSG00000188910 HGNC:4285 04505 133200;220290;603324;612644 REVIEWED 736925 GJA1 gap junction protein, alpha 1, 43kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014] 6 6 6 q22.31 122501175 122515303 + 121756745 121770873 + 121435599 121449727 + 1582666;1582667;1582668;1580863;1580398;704404;6480464;6484113;6907045;7207393;7207850;7207411;7207474;7207259;1299355;7207263;7240710;7207854;7207423;6480433;7207261;7207267;7207269;7207810;7207262;7207415;7207851;7207264;8662385;7364890;7364785;1578475;7349390;7364887;8554872;8662411;8662399;8662447;8662382;8662380;8699517;8662383;8662375;8662372;8662456;8662373;8662444;8662422;8662424;8662426;8662459;8662400;8662460;8662439;8662452;8662431;8662384 10873295;11422751;11470490;11527649;11741837;12062341;12457340;12619876;12791041;14622215;15381756;15637728;16010294;16155213;16448880;16953110;17146929;17855776;18538309;19077877;20130277;20609064;21414209;21573906;21718970;22110070;22455314;22665389;22808518;22812228;22841862;22951907;22969867;23165424;23321332;23328809;23374942;23403365;23485053;23568744;23576849;23719203;23783886;23906405;23951191;23951358;24183749;24631560;8770903 10331943;10581143;10679481;10764404;10792506;10871288;11031247;11035005;11124251;11146471;11273731;11514593;11557558;11739633;11741942;11746825;11815667;11980479;12003820;12019157;12042301;12064615;12064622;12064631;12149451;12203365;12205082;12270943;12397213;12417300;12452056;12477932;12484567;12489165;12506110;12619863;12637502;12644583;12717835;12730291;12761501;12767974;12804600;12840075;12861055;12881039;12907686;13130072;14519646;14639017;14667880;14681024;14702389;14713573;14729836;14766937;14974090;15108203;15140236;15181016;15334670;15338868;15489334;15534005;15551259;15576650;15704645;15709751;15817491;15870276;15944608;15948121;15978203;15979566;15987459;16103109;16112082;16219735;16319124;16361362;16378922;16407179;16424398;16442184;1646158;16480955;16580773;16638984;16647893;16674815;16675599;16677845;16684925;16741927;16790700;16816024;16820096;16820904;16823880;16886200;16891658;16944923;16958087;1696265;17072341;17143533;17183550;17189315;17259707;17275998;17401374;17420259;17486593;17541973;17551925;17572641;17624368;17687502;17708781;17760848;17878326;17885214;17895291;17898133;17901047;17922338;18047584;18056766;18068673;18079109;18085635;18089569;18161618;18162455;18162583;18193170;18267319;18269311;18297686;18396685;18405916;18412120;18425059;18435417;18445604;18464913;1850831;18600256;18636092;18647409;18660473;18662195;18675253;18687515;18823947;18839320;18946008;18951659;18988928;19001515;19027966;19056535;19084810;19174466;19297036;19297523;19321193;19321666;19396169;19423654;19460861;19490996;19544087;19556520;19563063;19604543;19615768;19679555;19706598;19710532;19716642;19726320;19808103;19808665;19808888;19820388;19835873;19847613;19854014;19860828;19864031;19864490;19883623;19907029;19908168;19910046;19913121;19935872;20038810;20086016;20117462;20130915;20137634;20167932;20233983;20346202;20347265;20373058;20375327;20406988;20413811;20512920;20512937;20530971;20593197;20606116;20628086;20634891;20639392;20651379;20668687;20684953;20803237;20876208;20878577;20881238;20934339;20940304;21139048;21176558;21205823;21328609;21378309;21383325;21385904;21411628;21424225;21442291;21532342;21538160;21554242;21606502;21642545;21665377;21669459;21670345;21716323;21718795;21726529;21727092;21763271;21819962;21839722;21856279;21858092;21866551;21872657;21890473;22012769;22033928;22049024;22080401;22112812;22131169;22141269;22155212;22179534;22180603;22230328;22238282;22259903;22389404;22399755;22405962;22417726;22422398;22430144;22446325;22558917;22590817;22615994;22657348;22729648;22736223;22775996;22785209;22809623;22918484;22951570;23000965;23042455;23095853;23106098;23151788;23178689;23183192;23255671;23257890;23322705;23344009;23354732;23363606;23376080;23386650;23420013;23544880;23579271;23583979;23606748;23621211;23678036;23679094;23706332;23750535;23768164;23800357;23819010;23828237;23922689;23978378;23991165;24040271;24046143;24056538;24119489;24134157;24210816;24241398;24256120;24270393;24294380;24376266;24434540;24445236;24457961;24457967;24500718;24501781;24508941;25070368;7715640;8028021;8125298;8389684;8631994;8798588;8873667;9155619;9278444;9430691;9443444;9535905;9535909;9707407 2697 B4DN50;P17302 ABBA01025997;AF151980;AK223289;AK294670;AK295460;AK297761;AK297764;AK309377;AK309490;AK312324;AL139098;AMYH02014396;AW664595;BC026329;BP226987;CH471051;CR541660;M65188;NG_008308;NM_000165;U64573;X52947 AAA52131;AAD37802;AAH26329;ABM84575;ABM86537;BAD97009;BAG35246;BAG57837;BAG58393;BAG60109;BAG60112;CAA37122;CAG46461;EAW48178;NP_000156;P17302 Hs.700699;Hs.74471 1339824;1340521;1686352;1792478;1792944;1854144;2113816 D6S1639;D6S302;GJA1;PMC151788P1;PMC170950P8;RH27497;WI-6988 AVSD3;CMDR;CX43;DFNB38;GJAL;HLHS1;HSS;ODDD OTTHUMP00000017111;connexin 43;connexin-43;gap junction 43 kDa heart protein;gap junction alpha-1 protein;gap junction membrane channel protein alpha 1;gap junction protein, alpha-like APPROVED protein-coding ENSG00000152661 HGNC:4274 00414 121014;164200;186100;218400;241550;257850;600309 REVIEWED 732720 GIT1 G protein-coupled receptor kinase interacting ArfGAP 1 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); regulation of G-protein coupled receptor protein signaling pathway (inferred); PARTICIPATES IN E-cadherin signaling pathway; endocytosis pathway; FOUND IN aggresome; cytoplasm; focal adhesion; INTERACTS WITH atrazine; diazinon; paracetamol 17 17 17 p11.2 24761352 24777476 - 27900487 27916610 - 29573469 29589592 - 68782;1580863;6480464;6484113;6907045 9826657 10428811;10896954;10938112;11381105;11896197;12153727;12473661;12477932;12522103;12629171;12695502;12923177;12938929;14523024;14702039;15016733;15182672;15302935;15324660;15383276;15489334;15592455;15793570;15923189;15951569;16169070;16598076;16628223;16825424;17081983;17353931;17429073;17467235;17562871;18029348;18211801;18292392;18523162;19023093;19041750;19303398;19322201;19494130;19923322;19946888;19947948;20677014;20713492;20881960;21139048;21499268;21706016;21900206;22807447;22863883;22893698;22897819;23325601;23455922;24250222;24265417;24335959;24654937;24816145;8889548 28964 E7EVC2;J3QL89;J3QLH1;J3QQI0;J3QRU8;K7EIX6;K7EN79;Q59FC3;Q9Y2X7 AB209537;ABBA01015015;AC104564;AF124490;AK000863;AK024826;AK294785;AK297443;AK299615;AK299932;AMYH02033251;AMYH02033252;AMYH02033253;BC001369;BC005031;BC006227;BC018998;BC032098;BC048196;BC067358;BM984210;BQ424386;BX537553;BX537554;BX648097;CF994106;CH471159;DR001908;NM_001085454;NM_014030 AAD28046;AAH05031;AAH06227;AAH32098;AAH48196;BAD92774;BAG57910;BAG59869;BAG61543;BAG61765;CAD97779;CAD97780;EAW51196;EAW51197;NP_001078923;NP_054749;Q9Y2X7 Hs.514051 1676448;1686186;2109349;2123639;5122612 G17968;GIT1_9564;RH12426;RH35980;RH39387 ARF GAP GIT1;CAT-1;CAT1 ARF GTPase-activating protein GIT1;G protein-coupled receptor kinase interactor 1;G protein-coupled receptor kinase-interactor 1;GRK-interacting protein 1;OTTHUMP00000163605;OTTHUMP00000163606;cool-associated and tyrosine-phosphorylated protein 1 protein-coding ENSG00000108262 HGNC:4272 06577 608434 VALIDATED 732555 GJB1 gap junction protein, beta 1, 32kDa This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008] X X X q13.1 70788947 70798946 + 70435062 70445065 + 71215212 71225215 + 704404;1580863;6480464;7240710;7364894;7349390;7349397;7349398;8554872;8699517 1336494;21813206;7762611;8770903 10220155;10234007;10581193;10586284;10732813;10737979;10852921;10873293;10894999;10923043;10938190;11024208;11030070;11031247;11140841;11180613;11295246;11393532;11437164;11438991;11545686;11562788;11571214;11723288;11835375;11891346;11980479;12111842;12205082;12207932;12325071;12362307;12402337;12460545;12477701;12477932;12497641;125246;12536289;12542510;12707076;12717835;12775342;12849984;1318266;1319395;14627639;14663144;14688024;14960772;15006706;15192806;15241803;15334670;15383278;15468313;15470753;15489334;15508871;15685554;15703409;15704645;15782139;15852376;15947997;16079393;16096811;16344560;16373087;16712791;1674715;16790356;17052905;17200131;17353473;17372902;17546509;17565422;17569045;17620124;17646144;17714866;18058801;18267319;18292829;18353664;18372303;18379723;18396685;18676375;18714809;18717720;18949782;19062535;19259128;19265674;19297523;19335535;19369543;19448103;19523148;19550132;19686581;19691535;19864490;19883623;20039784;20128140;20133984;20137634;20209499;20301532;20301548;20532933;20628624;20730878;20857133;20931524;20942588;21036166;21082351;21103663;21104867;21291455;21478159;21504505;21607969;21687945;21832049;21918739;22012769;22131286;22243284;22445976;22771394;22944031;23000965;23011429;23139176;23209285;23279342;23384994;23687377;23743332;23773993;23827825;24078732;24119489;24333598;2460334;2875078;7477983;7833935;7971964;8004109;8162049;8266101;8390988;8567789;8628473;8698335;8733054;8737658;8757034;8807343;8829637;8842374;8889549;8889588;8956046;8990008;9018031;9099841;9184217;9187667;9272161;9361298;9401007;9469569;9592087;9633821;9818870;9856562;9888385 2705 C9JWU8;P08034 AA041403;ABBA01067689;ABBA01067690;ABBA01067691;AK313474;AL590762;AMYH02039671;AMYH02039672;BC002805;BC022426;BC039198;BI764356;BT019329;CB155778;CH471132;DA081668;DA262106;L47127;NG_008357;NM_000166;NM_001097642;S83322;S83323;X04325 AAA75086;AAH02805;AAH22426;AAH39198;AAV38136;ABM84441;ABM87493;BAG36259;CAA27856;EAX05305;EAX05306;NP_000157;NP_001091111;P08034 Hs.333303 2118815 RH1704 CMTX;CMTX1;CX32 GAP junction 28 kDa liver protein;OTTHUMP00000023502;OTTHUMP00000023503;OTTHUMP00000023504;OTTHUMP00000023505;connexin 32;connexin-32;gap junction beta-1 protein;gap junction membrane channel protein beta 1 APPROVED protein-coding ENSG00000169562 HGNC:4283 02367 302800;304040 REVIEWED 731518 GJA4 gap junction protein, alpha 4, 37kDa This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008] 1 1 1 p35.1 33532323 33535072 + 35258559 35261351 + 34792958 34795750 + 1580400;1580398;1580863;1626626;1626615;1626412;6480464;7207847;8554872 12477941;12644912;15059615;15381756;15982495;16677656 10447790;10728596;11375929;11744143;12477932;1370487;14667880;15167446;15194487;15234427;15481066;15489334;15504903;16361362;16710414;1688855;16998253;17192395;17196598;17207965;17318613;17418016;17531234;17719307;17785925;17922338;17975119;18073482;18605953;18664489;18724972;19023099;19056482;19166859;19282863;19407064;19420105;19478091;19578796;1964417;20081116;20142115;20452482;20530971;20673868;20705954;20959880;21044781;21172909;21208019;21617605;2167375;21810657;22305353;22528526;22648509;22729648;22901223;23724624;23926016;24261225;24333099;7680674;8586454;8761439;9020357;9546360;9617570;9843209 2701 P35212;Q5JW71 ABBA01023362;AF132674;AF139100;AF139101;AF139102;AF139103;AF139104;AF139105;AF180815;AF181620;AK291563;AL121988;AMYH02000748;AU103361;BC027889;BC072389;CH471059;M96789;NM_002060;XM_005270750 AAA52558;AAD31869;AAD31870;AAD31871;AAD31872;AAD31873;AAD31874;AAD56533;AAD56940;AAF62342;AAH27889;AAH72389;ABM92225;ADQ31997;BAF84252;EAX07440;EAX07441;NP_002051;P35212;XP_005270807 Hs.296310 1778095;1793166;1795920;2162599 D1S3523;GJA4_1678;PMC197251P2;SHGC-74583 CX37 OTTHUMP00000004181;OTTHUMP00000004182;connexin 37;connexin-37;gap junction alpha-4 protein;gap junction membrane channel protein alpha 4 APPROVED protein-coding ENSG00000187513 HGNC:4278 08509 121012 REVIEWED 1346461 GJB7 gap junction protein, beta 7, 25kDa Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] 6 6 6 q15 88411371 88457670 - 87992696 88038996 - 87282979 87329278 - 6480464 12108537;12477932;12881038;14574404;15489334;17207965;24324551;8889548 375519 Q6PEY0 ABBA01040492;AJ414563;AK127554;AL096817;AL139274;AL160258;AMYH02014053;BC057813;BM976147;NM_198568;XM_005248716 AAH57813;ADQ32510;BAG54522;CAC93845;NP_940970;Q6PEY0;XP_005248773 Hs.146727 2177200 D6S1297 CX25;MGC71746;bA136M9.1;connexin25 OTTHUMP00000016827;OTTHUMP00000236032;connexin 25;connexin-25;gap junction beta-7 protein APPROVED protein-coding ENSG00000164411 HGNC:16690 13579 611921 VALIDATED 1350984 GJC1 gap junction protein, gamma 1, 45kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 39586320 39618684 - 42875816 42908179 - 44798448 44830811 - 1580398;1580863;6480464 15381756 10336839;10377174;11031247;11557048;12064590;12064615;12452056;12477932;14667880;14702039;14766937;15146197;15489334;16344560;16463142;17189315;17546509;19864490;19883623;19913121;20530971;20628086;20979653;21139048;21254920;21406965;21424225;21674053;21906983;7966354;9523149 10052 K7EM78;K7ENT9;K7EQ14;K7ERH3;P36383;Q5H9P2 ABBA01028345;ABBA01028346;ABBA01028347;AC005180;AK098274;AK124339;AMYH02033499;AMYH02033500;AMYH02033501;AMYH02033502;BC096213;BC096214;BC096215;BC096216;CH471178;CN299428;CR933719;DA845933;NM_001080383;NM_005497;U03493;XM_005256920;XM_005256921 AAA60458;AAH96213;AAH96214;AAH96215;AAH96216;BAG54030;CAI46249;EAW51577;NP_001073852;NP_005488;P36383;XP_005256977;XP_005256978 Hs.712052;Hs.744748 1676290;1797578;1853343;5015619;5015861;5015961;5016352;5016478;5016596;5021396;5022463;5022578;5024039;5024413;5037552;5109281;5118576;5118674;7185938 D10S16;D11S3114;D11S3430;D11S3538;D15S1477;D16S325;D1S1423;D1S1425;D3S1673;D8S2279;G17972;GDB:313783;GDB:434012;GDB:631802;GJA7_969.2;L17877;L30021;RH80700 CX45;DKFZp686P0738;GJA7 connexin 45;connexin-45;gap junction alpha-7 protein;gap junction gamma-1 protein;gap junction protein, alpha 7, 45kDa;gap junction protein, alpha 7, 45kda (connexin 45) APPROVED protein-coding ENSG00000182963 HGNC:4280 08819 608655 REVIEWED 1352157 GJB4 gap junction protein, beta 4, 30.3kDa This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009] 1 1 1 p34.3 33499066 33503049 + 35225342 35229325 + 34759741 34763724 + 1598970;1598971;1580863;6480464;7240710;8554872;8699517 11017804;12648223 11420600;11933201;12477932;14583444;14702039;148984;1512260;15489334;16297190;16710414;19291775;19523148;19578796;20593197;21198793;21950330;22266302;23037955;23678955;25015289 127534 Q9NTQ9 ABBA01023363;AK057628;AL121988;AMYH02000748;BC034709;CH471059;CS300805;NG_016243;NM_153212 AAH34709;ABM82250;ABM85434;BAG51944;CAK32469;EAX07443;NP_694944;Q9NTQ9 Hs.351203 1795924;1797580;2168204 GJB4_2581;GJB5_1602;RH77843 CX30.3;EKV;MGC21116 OTTHUMP00000004185;connexin 30.3;connexin-30.3;gap junction beta-4 protein;gap junction protein, beta 4 (connexin 30.3) APPROVED protein-coding ENSG00000189433 HGNC:4286 05666 133200;605425 REVIEWED 1346209 GJC2 gap junction protein, gamma 2, 47kDa This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 201527795 201537768 + 228337415 228347527 + 228149714 228159826 + 6480464;7240710;8554872;8699517 12477932;12805295;12843301;15174051;15192806;15489334;16710414;16969684;17031678;17344063;18094336;18521858;19056803;19423250;20120347;20301682;20537300;21266381;21959080;22283455;22351697;22669416;23142375;23544880;23550541;23684670;24501781;8889548 57165 Q5T442 ABBA01005831;ABBA01005832;AF014643;AL359510;AMYH02002837;AY285161;BC035840;BC089439;BU739494;CF132637;CH471098;NG_011838;NM_020435 AAB94511;AAH35840;AAH89439;AAP37488;EAW69860;NP_065168;Q5T442 Hs.100072;Hs.743715 1678323;1729910 D1S174E;RH80270 CX46.6;Cx47;GJA12;HLD2;LMPH1C;MGC105119;PMLDAR;SPG44 OTTHUMP00000037763;connexin 47;connexin-46.6;connexin-47;connexin46.6;gap junction alpha-12 protein;gap junction gamma-2 protein APPROVED protein-coding ENSG00000198835 HGNC:17494 10582 608803;608804;613206;613480 REVIEWED 732046 GJB5 gap junction protein, beta 5, 31.1kDa This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012] 1 1 1 p35.1 33494445 33497836 + 35220648 35224113 + 34755047 34758512 + 1580863;6480464;8554872 12477932;15363549;15489334;16710414;17207965;17302988;18763093;19283857;19339270;21777377;21900206;21988832;22589738;9843209 2709 O95377 AA877961;ABBA01023363;AF052693;AF099731;AK129509;AL121988;AMYH02000748;BC004379;CH471059;NG_016243;NM_005268;XM_005270751 AAC95472;AAD18005;AAH04379;ADQ31861;EAX07444;NP_005259;O95377;XP_005270808 Hs.198249 1662718;1795924;2168204 AL009997;GJB5_1602;RH77843 CX31.1 OTTHUMP00000004186;connexin 31.1;connexin-31.1;gap junction beta-5 protein;gap junction membrane channel protein beta 5;gap junction protein, beta 5 (connexin 31.1);gap junctional protein cx31.1 APPROVED protein-coding ENSG00000189280 HGNC:4287 06840 604493 REVIEWED 1351211 GJB2 gap junction protein, beta 2, 26kDa This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008] 13 13 13 q11-q12 1823407 1828919 - 20761602 20768605 - 20187463 20194466 - 1580863;6480464;7240710;7364813;7364814;7364798;7364803;7349365;7349397;7364796;7364887;7349367;7364799;7364885;7364889;7349398;7364812;7364819;7364794;7364809;7364811;7364817;7364886;7364823;7364893;7349390;7364883;7364824;7364810;7364821;7364888;7364892;8554872;8699517 10369869;10633133;1336494;15224875;15482471;17993581;18787097;18950394;19173109;20022641;20307501;20601923;20926451;21227513;22031297;22037723;22110070;22975134;23073770;23554706;23637863;23668481;23680645;23827367;23924173;24022696;24052745;7762611;8770903 10218527;10376574;10422812;10607953;10633135;10713833;10757647;10807696;10830906;10982180;10982182;11031247;11073548;11074495;11076062;11134236;11162081;11216657;11298683;11313751;11313763;11354642;11386851;11409864;11432967;11438992;11439000;11445873;11483639;11493200;11556849;11584050;11587277;11603757;11668644;11719551;11748849;11788203;11846738;11872627;11872644;11896458;11912510;11935342;11960582;11968091;11977173;11980479;12042301;12064627;12064630;12068628;12072059;12081719;12107817;12110573;12111646;12112666;12121355;12167443;12169891;12172392;12172394;12174613;12176036;12176179;12189487;12189493;12212857;12239718;12372058;12384501;12384781;12393046;12417772;12420583;12477932;12484567;12490065;12497637;12501766;12505163;12522556;12522692;12527132;12530196;12548749;12557263;12560944;12624506;12668604;12684873;12701741;12746422;12752120;12767933;12768774;12786758;12792423;12810983;12833397;12835856;12844145;12851846;12865758;12904681;12925341;1324944;14505035;14520102;14534413;14556203;14595769;14643477;14660916;14681041;14681046;14694360;14700667;14719096;14722929;14735592;14759569;14978038;14979964;14985372;15025729;15033936;15057823;15064611;15109709;15113126;15138772;15140236;15146474;15148174;15219044;15226564;15236885;15242756;15253766;15274422;15288505;15334670;15337980;15345117;15359540;15365987;15386363;15464305;15464308;15479191;15489334;15502644;15504600;15547422;15547423;15547683;15577772;15592461;15617546;15633193;15635064;15638823;15656949;15666300;15670746;15700112;15704645;15744158;15770735;15793769;15832357;15841999;15855033;15857182;15857852;15858675;15870276;15878206;15895291;15932734;15954104;15964725;15967879;15996220;16012344;16088916;16125251;16154643;16158474;16222667;16226720;16243461;16258398;16283880;16335400;16344560;16371502;16379178;16379542;16380907;16406239;16407179;16425640;16532460;16570074;16647893;16650419;16713631;16773579;16777986;16840571;16849369;16877344;16981465;17029193;17036313;17041897;17041943;17203385;17227765;17253936;17276518;17290388;17299707;17313762;17357124;17365058;17368814;17369171;17381453;17394388;17406097;17426645;17428550;17428836;17431919;17444514;17455295;17485979;17505205;17551008;17553572;17567887;17567889;17568408;17581693;17614106;17615163;17660464;17661817;17666888;17672987;17672988;17695503;17786286;17903576;17909436;17935238;17949297;17989577;18024254;18075246;18089569;18167282;18191019;18196482;18245526;18261328;18267319;18274916;18288393;18294049;18294064;18300439;18316665;18324688;18338563;18353197;18368581;18411733;18412859;18454068;18472371;18484607;1850831;18519234;18554165;18560174;18570126;18570691;18580690;18585793;18607988;18649181;18668259;18684989;18688874;18758381;18762573;18776652;18809214;18821568;18843290;18925674;18941476;18951659;18952066;18983339;18985073;18987669;18988928;18990456;19008837;19027181;19027966;19043807;19050930;19051073;19072567;19101659;19125024;19157576;19190252;19235794;19239084;19254696;19297849;19326169;19338775;19340074;19350503;19366456;19371219;19375528;19384972;19465004;19475720;19491791;19523148;19550132;19558834;19558853;19586875;19587431;19673989;19686581;19707039;19715470;19715472;19718752;19719946;19723508;19744334;19775242;19793313;19814620;19820388;19844737;19864490;19877196;19887791;19902103;19925344;19929407;19929408;19939300;19941053;20073550;20083784;20086291;20086306;20095872;20096468;20154630;20201936;20230788;20233142;20234132;20235449;20236118;20300122;20301449;20301607;20301708;20359100;20372813;20376804;20377502;20381175;20441744;20442751;20452482;20471110;20497192;20533257;20553101;20560254;20563649;20565955;20583176;20584891;20586333;20593197;20609484;20613545;20627047;20628624;20634891;20650534;20668687;20673868;20708129;20736419;20739942;20739944;20812880;20815033;20835527;20842950;20863150;20931531;20937258;20953187;20954238;20956747;21040787;21042228;21055240;21056478;21094651;21112098;21114417;21122151;21162657;21220926;21281533;21287563;21298213;21298644;21366436;21388256;21410767;21465647;21468573;21478159;21484343;21484990;21488715;21510145;21586435;21617344;21622233;21651318;21720291;21726435;21728791;21738759;21776002;21777984;21809555;21811981;21815880;21868108;21906983;21916817;21933663;21962949;21988832;21996152;22000900;22007731;22070872;22088281;22103400;22106692;22154049;22172221;22178340;22196401;22208444;22208942;22231884;22281373;22285739;22292956;22364789;22369226;22389666;22391066;22412181;22421650;22429511;22445976;22484064;22498363;22519989;22534022;22567152;22567861;22569142;22574200;22590817;22592158;22613756;22668073;22695344;22704424;22747691;22787277;22842402;22875492;22890607;22925408;22960825;22991996;23011367;23039283;23048025;23138568;23139176;23141775;23171692;23261389;23296490;23374644;23434199;23442195;23447037;23489192;23503914;23504403;23638949;23640091;23665763;23684175;23751281;23797419;23797420;23815884;23826813;23834103;23856378;23856379;23863883;23873582;23900770;23967136;24013081;24039984;24080506;24158611;24222258;24224790;24337325;24341454;24359029;24468086;24781170;2956987;7829101;7881423;8125298;8136828;8978770;9139825;9328482;9336442;9358053;9422505;9471561;9482292;9529365;9592087;9600457;9620796;9819448;9856479 2706 H9U1J4;P29033 AA947181;AA962716;ABBA01068576;AF281280;AF479776;AK225966;AK313595;AL138688;AMYH02027636;AY255853;AY275646;AY275648;AY275649;AY275650;AY275651;AY275652;AY275653;AY275654;AY280971;AY953438;AY953441;BC017048;BC071703;BI491091;BT006732;CH471075;DA287424;JQ342677;JQ595559;M86849;NG_008358;NM_004004;U43932;XM_005266354;XM_005266355;XM_005266356 AAD14840;AAD21314;AAF91440;AAH17048;AAH71703;AAL87696;AAP34178;AAP35378;AAQ17213;AAQ94940;AAQ94942;AAQ94943;AAQ94944;AAQ94945;AAQ94946;AAQ94947;AAQ94948;AAY25169;AAY25170;ABM82723;ABM85906;AFG29040;AFG29041;BAG36361;EAX08252;EAX08253;NP_003995;P29033;XP_005266411;XP_005266412;XP_005266413 Hs.524894;Hs.714494 1675111;2114094 GJB2;RH78858 CX26;DFNA3;DFNA3A;DFNB1;DFNB1A;HID;KID;NSRD1;PPK OTTHUMP00000018093;OTTHUMP00000018094;connexin 26;connexin-26;gap junction beta-2 protein;gap junction protein beta 2;gap junction protein, beta 2, 26kda (connexin 26) APPROVED protein-coding ENSG00000165474 HGNC:4284 00413 121011;124500;148210;148350;149200;220290;601544;602540 REVIEWED 2302326 GJE1 gap junction protein, epsilon 1, 23kDa INVOLVED IN cell communication (inferred); cell morphogenesis (inferred); lens development in camera-type eye (inferred); FOUND IN connexon complex (inferred); integral component of membrane (inferred); INTERACTS WITH cisplatin; paracetamol (ortholog) q24.1 6480464 14574404;18849090;19657183 100126572 A6NN92 AL033522;NG_033968 CX23 connexin-23;gap junction epsilon-1 protein pseudo HGNC:33251 INFERRED 733205 GJD2 gap junction protein, delta 2, 36kDa This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012] 15 15 15 q14 11803998 11806010 - 35044642 35046782 - 34752441 34754581 - 1300300;6480464;7364784 11516403;20034754 10462698;12477932;12522556;14565956;15083701;15116387;15235036;15489334;16211561;16876983;17427027;17828386;19000992;19095792;19418635;20835239;20979653;22288100;22752717;23396134;23756480;24144296 57369 Q9UKL4 AB037509;ABBA01038522;AC087457;AF153047;AMYH02030179;BC069131;BC069339;BC112110;BC112114;BC143788;CH471125;NM_020660 AAD54234;AAH69339;AAI12111;AAI12115;AAI43789;BAA90429;EAW92315;NP_065711;Q9UKL4 Hs.283816 2218450 CX36_4658 CX36;GJA9;MGC138315;MGC138319 OTTHUMP00000160080;connexin 36;connexin-36;gap junction alpha-9 protein;gap junction delta-2 protein;gap junction membrane channel protein alpha 9 APPROVED protein-coding HGNC:19154 09521 607058 REVIEWED 6481450 GK-AS1 GK antisense RNA 1 p21.2 100873902 AC112496;AL600044 Hs.1466 APPROVED ncrna HGNC:40255 1603351 GJD4 gap junction protein, delta 4, 40.1kDa Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] 10 10 10 p11.21 35659067 35662598 + 35894338 35897863 + 35605410 35608935 + 6480464;8554872 12477932;12881038;16303743;22729648;22889411;24096827 219770 Q8IV12;Q96KN9 ABBA01033334;AJ414564;AK074504;AL121749;AMYH02022626;BC035898;CH471072;CQ782432;NM_153368 AAH35898;AAI56175;AAI57015;AAI60130;BAC11028;CAC93846;CAF85719;EAW85910;EAW85911;NP_699199;Q96KN9 Hs.638922;Hs.670506 5022200;5022578;5022651 D11S2921;D1S1423;L18426 CX40.1;FLJ90023;RP11-425A6.2 OTTHUMP00000019455;connexin 40.1;connexin-40.1;connexin40.1;gap junction delta-4 protein APPROVED protein-coding ENSG00000177291 HGNC:23296 13103 611922 VALIDATED 1353777 GK2 glycerol kinase 2 ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN glycerol catabolic process (inferred); glycerol-3-phosphate metabolic process (inferred); phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH copper(2+) sulfate; (R)-noradrenaline (ortholog); 17alpha-ethynylestradiol (ortholog) 4 4 4 q13 77623185 77625050 - 80327507 80329372 - 79406353 79408218 - 1580863;6480464;8554872 12477932;19056867;20877624;7987308 2712 Q14410 ABBA01063392;AC079345;AK292241;AMYH02009552;BC027598;BC029820;BC048274;BC058888;BI830891;CH471057;HC007006;NM_033214;X78712 AAH29820;AAH48274;AAH58888;ABM82247;ABM85431;BAF84930;CAA55365;CBH19308;EAX05842;NP_149991;Q14410 Hs.98008 1718663;1753697;5122688 D4S3232;RH123019;SHGC-107631 GK 2;GKP2;GKTA ATP:glycerol 3-phosphotransferase 2;OTTHUMP00000160702;glycerokinase 2;glycerol kinase pseudogene 2;glycerol kinase testis specific 2;glycerol kinase, testis specific 2 protein-coding ENSG00000196475 HGNC:4291 15966 600148 VALIDATED 1353703 GJC3 gap junction protein, gamma 3, 30.2kDa This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010] 7 7 7 q22.1 94255435 94261786 - 99520892 99531833 - 99923269 99934210 - 1580863;6480464 12151525;12477932;12690205;12881038;15293232;18353664;19657183;19876648;20593197;20632892;21480002;23179405 349149 Q8NFK1 ABBA01013242;AC004522;AC011904;AF503615;AMYH02016369;AY297109;BC038207;BC038208;BC043381;CH236956;CH471091;KF458530;NG_016852;NM_181538;XM_005250312 AAH43381;AAI48671;AAI56595;AAM21145;AAP51161;EAL23863;EAW76624;NP_853516;Q8NFK1;XP_005250369 Hs.647524 1684594 RH80147 CX30.2;CX31.3;Cx29;GJE1 OTTHUMP00000210304;connexin 29;connexin-30.2;connexin-31.3;gap junction epsilon-1 protein;gap junction gamma-3 protein APPROVED protein-coding ENSG00000176402 HGNC:17495 13580 611925 REVIEWED 1344759 GK glycerol kinase The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] X X X p21.3 34794970 34872746 + 30671476 30749579 + 30653359 30731462 + 1580863;1601343;6480464;7240710;8554872;8699517 9719371 10736265;10737976;10851254;12477932;12636049;14654354;15489334;15845384;16549535;18660489;19056867;20110216;2081587;2159212;21890473;21906983;21988832;2982325;7987308;8401584;8499898;8499912;8651297;8884278;8944226 2710 A6NP46;B4DH54;C9JLT1;F8WBI8;F8WC39;F8WDA9;F8WF44;H7BYD2;H7C2A0;H7C5F6;P32189 AA689298;ABBA01072968;ABBA01072969;ABBA01072970;ABBA01072971;ABBA01072972;ABBA01072973;ABBA01072974;ABBA01072975;ABBA01072976;AC005913;AC112496;AC117404;AJ252550;AK294304;AK294938;AK308238;AK313215;AMYH02039115;AMYH02039116;AMYH02039117;AW300142;BC018009;BC037549;BC042421;BC071595;BG400692;BM906503;BX647604;CD369459;CH471074;HB936825;HB950504;HC994234;HD007914;L13943;NG_008178;NM_000167;NM_001128127;NM_001205019;NM_203391;X68285;X69886;XM_005274488;XM_006724483;XM_006724484;XM_006724485;XM_006724486 AAA52576;AAH37549;AAH42421;AAH71595;ABM82506;ABM85699;BAG36030;BAG57585;BAG58015;CAA48346;CAA49512;CAB54857;CAB54858;CAB54859;CBG03251;CBG09940;CBV16771;CBV23462;EAW99053;EAW99054;EAW99055;EAW99056;NP_000158;NP_001121599;NP_001191948;NP_976325;P32189;XP_005274545;XP_006724546;XP_006724547;XP_006724548;XP_006724549 Hs.1466 1648574;1686162;1689310;1694332;1702046;5121048;5124677;5126527 DXS1029;DXS1128;GDB:655772;RH16;RH36397;RH38757;RH92654;RH93765 GK1;GKD ATP:glycerol 3-phosphotransferase;OTTHUMP00000023108;OTTHUMP00000023109;OTTHUMP00000215321;glycerokinase APPROVED protein-coding ENSG00000198814 HGNC:4289 08363 300474;307030 REVIEWED 1606415 GK5 glycerol kinase 5 (putative) ENCODES a protein that exhibits ATP binding (inferred); glycerol kinase activity (inferred); phosphotransferase activity, alcohol group as acceptor (inferred); INVOLVED IN carbohydrate metabolic process (inferred); glycerol catabolic process (inferred); phosphorylation (inferred); INTERACTS WITH amiodarone; calcitriol; formaldehyde 3 3 3 q23 140299924 140367918 - 141876369 141944449 - 142157527 142225607 - 6480464 12477932;14702039;19322201;21139048;21906983;21963094 256356 F8WBF0;H7C4F2;H7C5R4;Q6ZS86 ABBA01059031;ABBA01059032;ABBA01059033;AC108679;AK090901;AK127641;AK130469;AK310761;AK313792;AMYH02007812;AMYH02007813;BC032470;BU628781;BX648359;BX648681;CH471052;DR000158;HG496117;NM_001039547;NR_033289;XM_006713563 AAH32470;ABM82533;ABM85726;BAC03542;BAC87068;BAG36529;EAW78974;EAW78975;EAW78976;NP_001034636;Q6ZS86;XP_006713626 Hs.135904;Hs.745523 1660501;1851611;5014039;5015959;5016478;5016596;5020948;5022322;5022651;5037552;5037554;5109281 D10S2448;D11S2560;D11S2921;D1S1425;D22S1584;D3S4133;D8S2279;D8S2282;G35510;GDB:434012;GDB:631802;STS-N22251 FLJ33582;FLJ45739;GK 5;MGC40579;RP11-485G4.2 ATP:glycerol 3-phosphotransferase 5;OTTHUMP00000214453;glycerokinase 5;putative glycerol kinase 5 protein-coding ENSG00000175066 HGNC:28635 14612 VALIDATED 1348347 GK4P glycerol kinase 4 pseudogene X X X q22.1 101554034 101556222 - 101033439 101035626 - 101778466 101780653 - 7987308 2716 ABBA01045023;AL672207;AMYH02040070;NG_001127;X78714;Z70050 1686162 RH92654 GKP6 glycerol kinase pseudogene 6 pseudo HGNC:4295 INFERRED 1605845 GK6P glycerol kinase 6 pseudogene INTERACTS WITH isotretinoin 4 4 4 q26 163534276 163536483 - 120314018 120316225 - 119392863 119395070 - 6480464 7987308;8499912 201989 ABBA01044708;AC110373;AMYH02009989;NG_004742;X78713 GK7P;GKP1 pseudo HGNC:23263 INFERRED 1344552 GK3P glycerol kinase 3 pseudogene ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN glycerol catabolic process (inferred); glycerol-3-phosphate metabolic process (inferred); phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrial outer membrane (inferred); INTERACTS WITH ciglitazone; methyl methanesulfonate; paracetamol 4 4 4 q32.1 163534517 163536748 - 166198944 166201175 - 165277792 165280023 - 1580863;6480464;8554872 12477932;7987308;9847074 2713 Q14409 ABBA01070291;AC055120;AC107059;AK292282;AMYH02010439;BC066960;NR_026575;X78711 BAF84971 Hs.654557 GKP3;GKTB glycerol kinase pseudogene 3 pseudo HGNC:4292 600149 VALIDATED 1606131 GKN2 gastrokine 2 FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); diuron (ortholog); indole-3-methanol (ortholog) 2 2 2 p13.3 69023098 69030721 - 69172364 69180102 - 68945232 68952970 - 6480464 12477932;12921637;12975309;15774165;15924415;16888721;17982272;18593995;18722547;21151392;21870107;24151046;24408014;24460791 200504 E5RHQ8;Q86XP6 ABBA01075491;AC114802;AF494509;AJ966788;AMYH02004015;AY358664;AY943908;BC110809;CH471053;NM_182536 AAI40336;AAI46485;AAO85515;AAQ89027;AAY24521;CAI85014;EAW99860;NP_872342;Q86XP6 Hs.16757 1675778;1770964;2129850 G19139;RH92704;SHGC-33686 BRICD1B;GDDR;PRO813;TFIZ1;VLTI465 BRICHOS domain containing 1B;OTTHUMP00000202135;OTTHUMP00000227716;blottin;down regulated in gastric cancer GDDR;down-regulated in gastric cancer GDDR;gastrokine-2;trefoil factor interactions(z) 1 protein-coding ENSG00000183607 HGNC:24588 17034 PROVISIONAL 1347477 GK7P glycerol kinase 7 pseudogene q41 7987308;8499912 2711 NG_001126;X78713 GKP1 glycerol kinase pseudogene 1 pseudo HGNC:4290 1351595 GKN1 gastrokine 1 The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 69052436 69058843 + 69201705 69208112 + 68974573 68980980 + 1302499;1580863;6480464;8554872 12851218 10835488;11562744;12477932;12975309;15489334;15924415;15961882;17092786;17207965;18593995;18927498;20379614;21751384;21792914;21898090;21988832;22621392;22798109;22842654;23317277;23319233;23444260;23846337;23993393;24099765;24151046;24460791 56287 Q53YU7;Q9NS71 AB039886;ABBA01075491;AC114802;AJ966789;AK098489;AL833013;AMYH02004015;AY139182;AY139184;AY359050;AY456961;BC059778;CH471053;NM_019617 AAH59778;AAN75447;AAN75449;AAQ89409;AAR21211;AAY24066;ADQ32573;BAA92433;CAH56295;CAI85015;EAW99859;NP_062563;Q9NS71 Hs.69319 1660307 RH48735 AMP-18;AMP18;BRICD1;CA11;FOV;MGC70354 18 kDa antrum mucosa protein;BRICHOS domain containing 1;OTTHUMP00000159974;foveolin;gastrokine-1 APPROVED protein-coding ENSG00000169605 HGNC:23217 16217 606402 REVIEWED 1351874 GKP4 glycerol kinase pseudogene 4 7987308 2714 HGNC:4293 1349249 GJB6 gap junction protein, beta 6, 30kDa Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] 13 13 13 q12 1857920 1868353 - 20796101 20806534 - 20221962 20232395 - 1599828;1580863;6480464;7240710;7364803;632751;7364785;7364899;7364895;7364770;7207847;7364891;7364892;7364893;6480433;7364812;7364783;7364769;7364817;7364784;8554872;8699517 11017065;12359154;12490528;12644912;18538309;19173109;20022641;20034754;20858605;21227513;21567444;21718970;22186156;23149765;23385797;23554706;23668481 10471490;10610709;10737800;11245683;11668644;11807148;11874494;11896458;12172392;12419304;12477932;12767933;12788524;12865758;12872268;14571368;14595769;14759569;15025729;15064611;15140236;15150777;15342556;15345117;15464305;15464308;15489334;15638823;15656949;15792634;15964725;16076412;16125251;16222667;16303743;16344560;16406239;16773579;17357124;17368814;17426645;17438853;17615163;17666888;17672988;17695503;17786286;17989577;18029348;18294049;18338563;18554165;18580690;18585793;18607988;18758381;18809214;18988928;19027966;19051073;19125024;19254696;19285977;19318801;19338775;19371219;19465004;19523148;19558834;19715470;19719946;19723508;19744334;19814620;19844737;19864490;19877196;19887791;20086291;20233142;20236118;20301379;20301449;20301607;20301708;20381175;20442751;20536673;20553101;20563649;20593197;20613545;20650534;20668687;20739942;20812880;20835527;21086793;21116114;21287563;21392827;21731760;21738759;21916817;22103400;22106692;22281373;22292956;22389666;22534022;22617145;22704424;23171692;23219093;23434199;23503914;23684175;23863883;24359029;7737190;8621942;8845850;9215774;9606177 10804 O95452 ABBA01068576;AJ005585;AK075247;AK289592;AK312352;AL355984;AMYH02027636;AY297110;AY789474;AY789475;AY789476;BC038934;BE181310;BE185135;BP227986;CF453597;CH471075;CQ783358;DA165219;DB339720;DB577868;DC295753;DC337465;DN998505;NG_008323;NM_001110219;NM_001110220;NM_001110221;NM_006783 AAH38934;AAP51162;AAV67951;AAV67952;AAV67953;BAF82281;BAG52094;CAA06611;CAF86564;EAX08254;EAX08255;EAX08256;EAX08257;EAX08258;NP_001103689;NP_001103690;NP_001103691;NP_006774;O95452 Hs.511757 1797582 GJB6_2557 CX30;DFNA3;DFNA3B;DFNB1B;ECTD2;ED2;EDH;HED;HED2 OTTHUMP00000018096;OTTHUMP00000176870;OTTHUMP00000176871;OTTHUMP00000176872;connexin 30;connexin-30;ectodermal dysplasia 2, hidrotic (Clouston syndrome);gap junction beta-6 protein;gap junction protein, beta 6 (connexin 30) APPROVED protein-coding ENSG00000121742 HGNC:4288 05107 129500;220290;604418;612643;612645 REVIEWED 1319005 GJD3 gap junction protein, delta 3, 31.9kDa This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35177047 35181088 - 38516904 38520945 - 40360652 40364693 - 1580863;6480464;7364769 23385797 12064584;12154091;12176752;12881038;16772377;17142249;18291099;19168070 125111 Q8N144 ABBA01031831;AC080112;AF514298;AK125254;AMYH02033398;AY093445;CH471152;NM_152219 AAI53090;AAM18801;AAM53649;BAC86102;EAW60660;NP_689343;Q8N144 Hs.444663 2131663 RH44908 CX31.9;Cx30.2;GJA11;GJC1 connexin 31.9;connexin-31.9;gap junction alpha-11 protein;gap junction chi-1 protein;gap junction delta-3 protein;gap junction protein, chi 1, 31.9kda (connexin 31.9) APPROVED protein-coding HGNC:19147 08461 607425 VALIDATED 1315863 GKAP1 G kinase anchoring protein 1 This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 9 9 9 q21.32 56924338 57002769 - 86354336 86444431 - 83739421 83817837 - 1580863;6480464 10671526;12477932;16015647;16189514;16713569;18654987;21988832;24722188;24816145 80318 B4DXS0;C9J9D2;Q5VSY0 AB033131;AB033132;ABBA01034004;ABBA01034005;ABBA01034006;ABBA01034007;ABBA01034008;AF319476;AJ420456;AK058198;AK302100;AL354733;AL354920;AL662787;AMYH02021119;AMYH02021120;BC014476;BI459540;CH471089;CS300686;DB454445;NM_001135953;NM_025211;XM_005252241;XM_006717293 AAG40320;AAH14476;ABM83176;ABM86376;BAB40454;BAB40455;BAB71712;BAG63482;CAK32350;EAW62665;EAW62666;NP_001129425;NP_079487;Q5VSY0;XP_005252298;XP_006717356 Hs.522255 2115665;2141450 A008B33;RH16341 FKSG21;FLJ25469;GKAP42 G kinase-anchoring protein 1;OTTHUMP00000021549;OTTHUMP00000021550;cGMP-dependent protein kinase anchoring protein 42kDa;cGMP-dependent protein kinase-anchoring protein of 42 kDa;protein kinase anchoring protein GKAP42 APPROVED protein-coding ENSG00000165113 HGNC:17496 17042 611356 REVIEWED 1349453 GLAT galactose enzyme activator 1192801;164654 2718 HGNC:4297 1319832 GLB1L galactosidase, beta 1-like ENCODES a protein that exhibits beta-galactosidase activity (inferred); hydrolase activity, hydrolyzing O-glycosyl compounds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH cisplatin; paracetamol; 17alpha-ethynylestradiol (ortholog) 2 2 2 q35 213871201 213879838 - 220101331 220110155 - 219236598 219245433 - 737633;1580863;6480464 12477932 12975309;14702039;21382349;21832049 79411 B4DTH1;C9J1Y9;C9JE41;F8WCT5;H7BZ46;Q6UWU2 ABBA01023845;AC068946;AK055098;AK074393;AK299404;AK300215;AMYH02005819;AMYH02005820;AX191561;AY358639;BC003523;BC028370;CH471063;NM_001286423;NM_001286427;NM_024506;XM_005246850;XM_005246851;XM_006712743 AAQ89002;BAB70855;BAG61387;BAG61983;CAC51167;EAW70711;EAW70712;EAW70713;NP_001273352;NP_001273356;NP_078782;Q6UWU2;XP_005246907;XP_005246908;XP_006712806 Hs.181173 1655278;1663635;2107155;5024039;5037552 D16S325;D8S2279;GLB1L__6807;SHGC-32531;WI-15771 MGC10771 OTTHUMP00000164173;OTTHUMP00000205949;OTTHUMP00000205950;beta-galactosidase-1-like protein protein-coding ENSG00000163521 HGNC:28129 11004 VALIDATED 1347574 GLB1 galactosidase, beta 1 This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 3 3 3 p21.33 32980743 33081754 - 33038100 33138694 - 32996608 33097202 - 1598983;1598984;1580863;6480464;6907045;7240710;8554872;8699517 10737981;11511921 10338095;10571006;10839995;10841810;10891505;110522;113895;12393180;12477932;12515396;12644936;1353343;1487238;14987258;15365997;15489334;15498789;15714521;15907791;1606711;16263699;16314420;16314480;16344560;16538002;16626397;16941474;17309651;17353931;17522702;17661814;17664528;18088383;18217416;18353697;18524657;18704747;18772331;18976701;19056867;1907800;1909089;19091613;1909871;1928092;19472408;19769716;20000738;20175788;20301334;20379614;20826101;20920281;20947500;21105107;2111707;21139048;21321400;21890473;21900206;21906983;21963094;21978926;21988832;22001501;22033734;22128166;22178079;22234367;22268729;22763966;22908062;23042114;23443559;24018455;24156116;24250222;24474696;24778252;24816145;2511208;3084469;3102233;3143362;3921454;3922758;6791574;6807121;7586649;7693577;8125298;8198123;8199591;8213816;8383699;8500799;8670798;8910459;8922281;9203065;9497360;9501080 2720 C9J4G9;C9J539;C9JF15;C9JWX1;E7EQ29;F8WEN1;F8WF40;P16278 ABBA01024911;ABBA01024912;ABBA01024913;ABBA01024914;AC112211;AK130133;AK222763;AK223091;AK298985;AK300021;AK300753;AK312988;AMYH02006511;AMYH02006512;AMYH02006513;AMYH02006514;AMYH02006515;AU134179;BC007493;BT007147;CH471055;DA077250;DA261513;DB504658;M22590;M27507;M27508;M34423;NG_009005;NM_000404;NM_001079811;NM_001135602;S59584 AAA35599;AAA51819;AAA51822;AAA51823;AAB19814;AAH07493;AAP35811;ABM81615;ABM84797;BAD96483;BAD96811;BAG35825;BAH12915;BAH13196;BAH13341;EAW64442;EAW64443;EAW64444;EAW64445;NP_000395;NP_001073279;NP_001129074;P16278 Hs.443031 1672359;1699444;1741433;1743317;2147975;2154233;2166605;5120616;5120618;5120620 D3S3936;G16542;GDB:181208;GDB:314877;GDB:362721;GDB:362736;GDB:362739;RH103313;RH69516;SHGC-76807 EBP;ELNR1;MPS4B OTTHUMP00000208610;OTTHUMP00000208611;OTTHUMP00000208612;acid beta-galactosidase;beta-galactosidase;elastin receptor 1, 67kDa;lactase APPROVED protein-coding ENSG00000170266 HGNC:4298 01975 230500;230600;230650;253010;611458 REVIEWED 1345592 GLC1B glaucoma 1, open angle, B (adult-onset) ASSOCIATED WITH GLAUCOMA 1, OPEN ANGLE, B (inferred); Glaucoma, Primary Open Angle (inferred) 7240710 8812425 2722 1334924;1336901 D2S2161;D2S2264 HGNC:4302 137760;606689 1349670 GLC1C glaucoma 1, open angle, C ASSOCIATED WITH GLAUCOMA 1, PRIMARY OPEN ANGLE, C (inferred) 7240710 9012402 2723 HGNC:4303 601682 1603928 GLB1L3 galactosidase, beta 1-like 3 ENCODES a protein that exhibits beta-galactosidase activity (inferred); hydrolase activity, hydrolyzing O-glycosyl compounds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH dioxygen; fonofos; parathion 11 11 11 q25 131319141 131362133 + 134145293 134189458 + 134269866 134319564 + 6480464;8554872 12477932;14702039;15489334;16554811;20379614;23251661 112937 H7C115;Q8NCI6 ABBA01031114;ABBA01031115;AK074712;AK124514;AMYH02025834;AP000859;BC011001;BC040605;BC063875;BC131702;CQ782642;CX760372;NM_001080407;XM_006718760 AAH11001;BAC11155;CAF85896;NP_001073876;Q8NCI6;XP_006718823 Hs.721382 1336258;1749057;1858534;2141736;2168374;5014051;5016478;5024272;5037552;5111739 AL033747;D11S2359;D11S2360;D11S4577;D2S1254;D8S2278;D8S2279;FB27F5;GDB:434012;SHGC-110682 FLJ90231 OTTHUMP00000205765;OTTHUMP00000235427;beta-galactosidase-1-like protein 3;galactosidase, beta 1 like 3 protein-coding ENSG00000166105 HGNC:25147 08814;13998 VALIDATED 1350911 GLC1D glaucoma 1, open angle, D (adult-onset) ASSOCIATED WITH Glaucoma 1, Open Angle, D (inferred) 7240710 2724 HGNC:4304 602429 1347214 GLC1F glaucoma 1, open angle, F (adult-onset) ASSOCIATED WITH Glaucoma 1, Open Angle, F (inferred) 7240710 2726 HGNC:4306 603383 1352465 GLC1H glaucoma 1, open angle, H (adult-onset) ASSOCIATED WITH Glaucoma 1, Open Angle, H (inferred) 7240710 399564 HGNC:23256 611276 1344649 GLC1I glaucoma 1, open angle, I ASSOCIATED WITH Glaucoma 1, Open Angle, I (inferred) 7240710 497188 HGNC:31912 609745 1345712 GLC2A glaucoma 2, angle closure 2727 HGNC:4307 3378226 GKN3P gastrokine 3, pseudogene FOUND IN extracellular region (inferred) 2 2 2 p13.3 69000141 69004470 + 69149637 69153966 + 68922505 68926834 + 15815621;20138039;20379614;23715263 100132413 P0CG01 ABBA01075491;AC097495;AMYH02004015;CH471053;NG_016576 EAW99861;P0CG01 1773804 SHGC-14448 pseudo HGNC:37701 INFERRED 1348594 GLC3B glaucoma 3, primary infantile, B ASSOCIATED WITH Glaucoma 3, primary infantile, B (inferred) 7240710 8842741 2728 HGNC:4309 600975 1345194 GLC3C glaucoma 3, primary congenital, C ASSOCIATED WITH GLAUCOMA 3, PRIMARY CONGENITAL, C (inferred) 7240710 399565 HGNC:30028 613085 1348388 GLDCP1 glycine dehydrogenase (decarboxylase) pseudogene 1 4 4 4 q12 54965218 54969018 + 57458631 57462431 + 56592465 56596265 + 2268343;7945295;9847074 2732 ABBA01003430;AC108215;AMYH02009258;NG_003012 1650169;1677292 D9S2017;SHGC-67420 GLDCP APPROVED pseudo HGNC:4314 INFERRED 1606483 GLB1L2 galactosidase, beta 1-like 2 ENCODES a protein that exhibits beta-galactosidase activity (inferred); hydrolase activity, hydrolyzing O-glycosyl compounds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzene; copper atom; copper(0) 11 11 11 q25 131374433 131418732 + 134201768 134246222 + 134331874 134376324 + 6480464;8554872 10737800;12477932;12975309;16303743;16344560;21906983 89944 H0YCY4;H0YDY6;Q8IW92 ABBA01031117;AF173889;AK074703;AK074750;AK074855;AK074947;AMYH02025835;AP000859;AP003971;AY358497;BC008326;BC040641;BF923895;BX640934;CH471065;DB228573;NM_138342;XM_006718937 AAH08326;AAH40641;AAQ13636;AAQ88861;BAC11149;BAC11179;BAC11247;BAC11309;EAW67842;EAW67843;EAW67844;NP_612351;Q8IW92;XP_006719000 Hs.436178 1685283;1687920;1738165;1749013;2165590;2180418;5022578;5022651 D11S1110;D11S2098;D11S2921;D11S3798;D11S4579;D1S1423;RH25689;SHGC-110655 MST114;MSTP114 OTTHUMP00000235428;OTTHUMP00000235430;beta-galactosidase-1-like protein 2 protein-coding ENSG00000149328 HGNC:25129 14265 VALIDATED 1607059 GLCE glucuronic acid epimerase Heparan sulfate (HS) is a negatively charged cell surface polysaccharide required for the biologic activities of circulating extracellular ligands. GLCE is responsible for epimerization of D-glucuronic acid (GlcA) to L-iduronic acid (IdoA) of HS, which endows the nascent polysaccharide chain with the ability to bind growth factors and cytokines (Ghiselli and Agrawal, 2005 [PubMed 15853773]).[supplied by OMIM, Jun 2008] 15 15 15 q23 46342293 46453794 + 69452921 69564546 + 69160582 69272207 + 6480464;6907045;8554872 10048485;11274177;11279150;12477932;14702039;14718527;15853773;17985344;19322201;20379614;21488854;21654676;21890473;22528493;22805760;22830596;22968430;24264315;24403231;8889549 26035 B3KML4;H0YNP1;O94923 AA393928;AB020643;ABBA01038769;AC026512;AC026992;AK002188;AMYH02030696;AMYH02030697;AY635582;BC026096;CH471082;N41364;NM_015554;W87397;XM_005254298;XM_005254299 AAI60046;AAT48654;BAA74859;BAG51026;EAW77837;NP_056369;O94923;XP_005254355;XP_005254356 Hs.183006 1733670;1736526;1736532;2110423;5021115;5023240;5113519 A002V46;D15S640E;D15S730E;D15S733E;D15S899;GLCE__6808;RH91714 KIAA0836 D-glucuronyl C5-epimerase;HSEPI;UDP-glucuronic acid epimerase;glucuronyl C5-epimerase;heparan sulfate C5-epimerase;heparan sulfate epimerase;heparin/heparan sulfate-glucuronic acid C5-epimerase;heparin/heparan sulfate:glucuronic acid C5-epimerase;heparosan-N-sulfate-glucuronate 5-epimerase APPROVED protein-coding ENSG00000138604 HGNC:17855 07020 612134 VALIDATED 1344140 GLA galactosidase, alpha This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008] X X X q22 101172239 101182459 - 100652779 100663001 - 101397791 101408013 - 1601350;1580863;6480464;6907045;7240710;8554872;8699517 2539398 10090526;10208848;10666480;11076046;11295840;11668641;11775551;11828341;11882018;12033283;12360742;12360745;12370426;12471562;12477932;12938095;1315715;1332979;15003450;15339079;15489334;15712228;15772651;15776423;15895718;16344560;16372133;16511611;16531566;16595074;16754800;16899426;16972173;17263716;17555407;17592721;17804462;18023222;18029348;18205205;18456533;1846223;18472290;18560446;18633574;18698230;18724168;18849176;18979178;18979223;19037253;19287194;19357250;19404287;19468850;19615732;19621417;19913121;19940122;19941952;19949670;20031620;20110537;20122163;20301469;20444686;20505683;20628086;20821055;20860754;21139048;21305660;21333496;21517827;2152885;21569768;21569769;2160973;21643977;21683120;2171331;21755431;21859400;21890473;21906983;21963094;21987572;22008442;22187137;22260214;22268729;22305854;22307442;22341397;22465271;22551898;22558451;22563919;22768187;22773828;22841442;22863883;23190516;23393592;23608164;23741361;23756194;23788249;23867994;24386359;24398019;2542896;2836863;2892762;3014515;3029062;3036505;39940;6256390;6313412;7503918;7504405;7531540;7575533;7596372;7599642;7626884;7759078;7911050;7959728;8069316;8125298;8380905;8395937;8425221;8543175;8807334;8834244;8863162;8875188;8931708;9100224;9105656;9110171;9620884;9630664 2717 P06280;Q53Y83;V9GYN5 ABBA01044978;ABBA01044979;AK222627;AK291095;AK297148;AL035422;AMYH02040066;BC002689;BT006864;CH471115;D00039;DB370480;M13571;M18242;M20317;NG_007119;NM_000169;U78027;X05790;X14448;X16889 AAA51676;AAA52514;AAA52559;AAB64203;AAH02689;AAP35510;ABM81647;ABM84825;BAA34059;BAD96347;BAF83784;BAG59647;CAA29232;CAA32617;EAX02862;EAX02863;NP_000160;P06280 Hs.69089 1702320;1741935;1742981;1743109;1743111;1743805;1744733;1791888;2162987;5491882 GDB:186877;GDB:192499;GDB:226672;GDB:264201;GDB:265312;GDB:373995;GDB:555540;GLA;PMC129774P1;RH18080 GALA OTTHUMP00000023679;agalsidase alfa;alpha-D-galactosidase A;alpha-D-galactoside galactohydrolase 1;alpha-gal A;alpha-galactosidase A;melibiase APPROVED protein-coding ENSG00000102393 HGNC:4296 02357 300644;301500 REVIEWED 1316460 GLE1 GLE1 RNA export mediator This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34.11 101917784 101955385 + 131266971 131304580 + 128504692 128542301 + 6480464;7240710;8554872;8699517 12477932;12668658;14645504;14702039;15164053;15489334;16000379;16341674;18204449;18724935;19322201;19946888;20379614;21139048;21906983;21963094;22064466;22357925;22505724;24144296;24243016;24250222;24275432;24457600;8125298;9618489;9683599 2733 B3KMG0;Q53GS7 AA806769;ABBA01043883;ABBA01043884;ABBA01043885;ABBA01043886;ABBA01043887;AF058922;AK001767;AK074801;AK222842;AK222854;AK290533;AL117584;AL356481;AL445287;AMYH02021717;AMYH02021718;AX877495;BC030012;BM786801;CH471090;NG_012073;NM_001003722;NM_001499;XM_005251925;XM_006717058;XM_006717059;XM_006717060;XM_006717061 AAC25561;AAH30012;ABM86235;ABW03696;BAD96562;BAD96574;BAF83222;BAG50972;CAB56006;CAE89752;EAW87802;EAW87803;EAW87804;NP_001003722;NP_001490;Q53GS7;XP_005251982;XP_006717121;XP_006717122;XP_006717123;XP_006717124 Hs.522418 1775426;2149178;2164265 RH36010;STS-H69303;WI-13572 GLE1L;LCCS;LCCS1;hGLE1 GLE1 RNA export mediator homolog;GLE1 RNA export mediator-like;GLE1-like protein;GLE1-like, RNA export mediator;OTTHUMP00000022280;OTTHUMP00000022281;nucleoporin GLE1 APPROVED protein-coding ENSG00000119392 HGNC:4315 04536 253310;603371;611890 REVIEWED 1318561 GLDC glycine dehydrogenase (decarboxylating) Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010] 9 9 9 p22 6469938 6583174 - 6532464 6645692 - 6532464 6645692 - 1580863;6480464;6907045;7240710;7242560;8554872;8699517 20645850 10798358;10873393;11286506;11592811;12402263;12477932;14552331;15824356;15851735;15864413;16344560;1634607;16404748;16450403;16482509;16601880;17361008;18581728;19615732;1993704;1996985;20301531;20877624;21145461;22171071;22225612;22505724;2268343;22699663;24457600;2773994;6778858;6790577 2731 P23378;Q9HDA3 ABBA01065391;ABBA01065392;ABBA01065393;AF246134;AI480362;AK308470;AK310534;AK314156;AL162411;AL353718;AMYH02019095;AMYH02019096;AMYH02019097;AW593954;BC111993;BC111995;CH471071;D90239;DA741442;DR002916;M63635;M64590;NG_016397;NM_000170 AAA36463;AAA36478;AAI11994;AAI11996;AAK28443;BAA14286;BAG36841;EAW58739;EAW58740;NP_000161;P23378 Hs.584238 1650169;1677292;1774755;2116180;2128099;2161335;2173144 D9S2017;D9S324;D9S937;SHGC-14149;SHGC-67420;STS-AA009796;WI-20011 GCE;GCSP;HYGN1;MGC138198;MGC138200;NKH OTTHUMP00000021050;glycine cleavage system P protein;glycine cleavage system protein P;glycine decarboxylase P-protein;glycine dehydrogenase (aminomethyl-transferring);glycine dehydrogenase (decarboxylating), mitochondrial;glycine dehydrogenase [decarboxylating], mitochondrial APPROVED protein-coding ENSG00000178445 HGNC:4313 01996 238300;605899 REVIEWED 1344225 GLI1 GLI family zinc finger 1 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 12 12 12 q13.2-q13.3 57507905 57520038 + 57853918 57866051 + 57460135 57472268 + 5510013;5510026;5491005;5490966;6480464;6484113;6907045;8554872 18772397;20635334;20716670;21186299 10504446;10559945;10564661;10693759;10806483;10951255;11001584;11032829;11238441;11717126;11948912;11960000;12138125;12165851;12221011;12426310;12477932;12907651;1320124;14555646;14611647;15024701;15111311;15175043;15314219;15489334;15555571;15606671;15905200;16003737;16229683;16293631;16434164;16537020;16701100;16786128;16880536;16887337;17007023;17018598;17035233;17054904;17102592;17115028;17179732;17196391;17392427;17461467;17628016;17638910;18203291;18281251;18378682;18410405;18425375;18475300;18524848;18559511;18754037;18829525;18924150;19015273;19071955;19189974;19191023;19203449;19214186;19219074;19329935;19432668;19473442;19556240;19593328;19706168;19706761;19859563;19878745;19887615;19902354;19948058;19996099;20049737;20050020;20081843;20083481;20175750;20211142;20333644;20445566;20561215;20581802;20603613;20647328;20711444;20799336;20818436;20857406;20941789;20972463;21059263;21127038;21129534;21169257;21172305;21209912;21357786;21424326;21442356;21494603;21543335;21577203;21618411;21630164;21633508;21661123;21666711;21720384;21726936;21757753;21861243;21921029;21940310;22040957;22086851;22094256;22110720;22114142;22114144;22266871;22295843;22365972;22374725;22398221;22407314;22486854;22558994;22623531;22730244;22745574;22768056;22797820;22868198;22901214;22911366;22949014;23146903;23152377;23178452;23185371;23324600;23336661;23337877;23395608;23436775;23446420;23493353;23520544;23525267;23555905;23580656;23645762;23667589;23686308;23757299;23788111;23791879;23792444;23860225;23900341;23936094;24013724;24045042;24058673;24072710;24076122;24081672;24165159;24217340;24223768;24311597;24357514;24366538;24384722;24393163;24393846;24418624;24454730;24573955;24739390;24758269;24854174;24870236;2497059;2832761;2850480;3563490;8378770;9118802;9524201;9731531 2735 B4DNF7;E9PIB9;E9PQQ1;P08151 AB239135;AB239136;AB239328;AB558490;ABBA01026701;AC022506;AF316573;AK297899;AMYH02026584;BC013000;CH471054;GQ890670;NG_029564;NM_001160045;NM_001167609;NM_005269;X07384;XM_005268799 AAH13000;AAM13391;ACX35434;BAG16751;BAG60219;BAN82438;CAA30297;EAW97013;NP_001153517;NP_001161081;NP_005260;P08151;XP_005268856 Hs.632702 1698778;1744029;1774019;1792710;1795926;2157183 D12S1934;GDB:384866;GLI_108;PMC156767P1;RH102952;STS-X07384 GLI GLI-Kruppel family member GLI1;OTTHUMP00000235722;OTTHUMP00000235724;glioma-associated oncogene 1;glioma-associated oncogene family zinc finger 1;glioma-associated oncogene homolog 1 (zinc finger protein);oncogene GLI;zinc finger protein GLI1 APPROVED protein-coding ENSG00000111087 HGNC:4317 01311 165220 REVIEWED 1347258 GLCCI1 glucocorticoid induced transcript 1 This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012] 7 7 7 p21.3 7976156 8096458 + 8008374 8128710 + 7968743 8089080 + 6480464;8554872 11591653;12477932;12557054;12690205;12853948;14702039;15489334;16344560;16964243;17081983;18029348;20360068;21991891;22304573;22660954;22796022;23602568;23836780;24131825;24163370 113263 H7C0B2;H7C0Q2;H7C2L5;Q86VQ1 ABBA01056523;ABBA01056524;AC006042;AK055741;AK093655;AK126731;AL832860;AL833694;AMYH02015200;AMYH02015201;BC011254;BC050291;BG719015;CH236948;CH471073;DB059656;KF511046;NG_032073;NM_138426;XM_005249606;XM_005249607;XM_005249608;XM_006715641 AAH11254;AAH50291;BAG54367;EAL24302;EAW93607;EAW93608;NP_612435;Q86VQ1;XP_005249663;XP_005249664;XP_005249665;XP_006715704 Hs.131673 1643836;1660621;1665495;1676908;1723899;1739097;1740659;2129068;2134227;2169209 A002M35;D20S1004;D7S2258;G35278;GDB:1318386;GDB:3755098;RH118687;RH66241;RH79779;SHGC-55956 FAM117C;GCTR;GIG18;TSSN1 OTTHUMP00000200889;OTTHUMP00000200939;glucocorticoid-induced transcript 1 protein APPROVED protein-coding ENSG00000106415 HGNC:18713 17043 614283;614400 REVIEWED 1354466 GLI4 GLI family zinc finger 4 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 8 8 8 q24.3 140658886 140668338 + 144333524 144359101 + 143267437 143276931 + 1580863;6480464 11181995;12477932;15489334;17081983;2850480;8641133 2738 E5RFY1;E5RG07;E5RGM1;E5RIX4;H0YBH2;P10075 AB209654;ABBA01005261;AC138696;AI829114;AMYH02018937;AY129020;BC014165;BI761835;CH471162;KF459605;M20678;M20679;NM_138465 AAA35990;AAH14165;AAM98763;ABM83871;BAD92891;EAW82268;EAW82269;EAW82270;EAW82271;NP_612474;P10075 Hs.400533 1777528 AF021132 HKR4;ZNF928 GLI-Kruppel family member GLI4 (oncogene HKR4);OTTHUMP00000228008;glioma-associated oncogene family zinc finger 4;krueppel-related zinc finger protein 4;zinc finger protein GLI4 protein-coding ENSG00000250571 HGNC:4320 01317 165280 VALIDATED 1344164 GLDN gliomedin ENCODES a protein that exhibits protein binding involved in heterotypic cell-cell adhesion (inferred); INVOLVED IN clustering of voltage-gated sodium channels (inferred); heterotypic cell-cell adhesion (inferred); microvillus organization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN collagen trimer (inferred); extracellular space (inferred); integral component of membrane (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; ammonium chloride (ortholog) 15 15 15 q21.2 28527112 28593608 + 51633713 51700210 + 51341516 51408013 + 1302401;6480464;8554872 12642876 12477932;12975309;14702039;16039564;22009740;22462667;24049095 342035 H0YM22;Q6ZMI3 ABBA01039083;ABBA01039084;ABBA01039085;AC020891;AK023623;AK095128;AK172756;AK308933;AK310755;AMYH02030430;AY358144;BC113397;BC113399;BK001262;BX538105;CH471082;NM_181789;XM_005254338;XM_006720482;XM_006720483 AAI13398;AAI13400;AAQ88511;BAD18742;CAD98018;DAA01143;EAW77418;EAW77419;NP_861454;Q6ZMI3;XP_005254395;XP_006720545;XP_006720546 Hs.526441 1664283;1682061;1710826;1761287;2120209;2137278;2181171;5093076 A009F18;D15S1204;G32505;RH44883;RH98759;SHGC-145291;SHGC-84163;WI-14763 CLOM;COLM;CRG-L2;CRGL2;FLJ23917;UNC-112 OTTHUMP00000162541;OTTHUMP00000162542;collomin;colmedin protein-coding ENSG00000186417 HGNC:29514 12267 608603 VALIDATED 1314328 GLIPR1 GLI pathogenesis-related 1 This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 12 12 12 q21.2 75541873 75563079 + 75874513 75895716 + 75480733 75501936 + 1580863;6480464;8554872 11971968;12477932;14702039;14871827;15489334;16712791;16714093;17207965;17825796;18030365;18199537;19483285;19913121;19946888;20356381;20628086;21045302;21777672;21922325;21931216;22025562;23333597;23433894;23714687;24008279;7607567;8973356;9482873 11010 B4E3S5;F6VVE8;J3QTC9;P48060 ABBA01026469;AC022507;AC121761;AF400440;AK304847;AK313449;AMYH02026774;AMYH02026775;BC005227;BC012510;CA421777;CB123261;CH471054;CQ834266;CQ834312;EF667354;JA738783;NM_006851;U16307;X91911 AAA82731;AAH12510;AAK92489;ABV21587;ADQ31908;BAG65587;CAA63005;CAH05348;CAH05371;CCF77044;EAW97306;EAW97307;EAW97308;NP_006842;P48060 Hs.205558 1669090;1698260;1739609;1740633;1858144;2117656;2118221;2123715;2128925;2148384;2158059;2181702;2187190;5108035 D12S1480E;D20S989;G35331;RH102666;RH149;RH18004;RH46456;RH46985;SGC32697;SHGC-31221;SHGC-35465;SHGC-56842;STS-H56474;STS-N32834 CRISP7;GLIPR;RTVP1 GLI pathogenesis-related 1 (glioma);OTTHUMP00000241999;OTTHUMP00000242001;gliPR 1;glioma pathogenesis-related protein 1;protein RTVP-1;related to testis-specific, vespid, and pathogenesis proteins 1;testes-specific vespid and pathogenesis protein 1 APPROVED protein-coding HGNC:17001 04071 602692 REVIEWED 2290201 GLIDR glioblastoma down-regulated RNA 9 9 9 p12 15400 15697 - 41952373 41955136 - 39807381 39810058 - 12477932;14702039;16189514;23726844 389741 A6NN06 AK092305;AK095690;AMYH02019974;BC000869;BC015151;BC019880;BC027338;BC040170;BX664615;NR_015363;NR_126044;NR_126045;NR_126046 A6NN06 Hs.380240;Hs.732469 5105701;5124817 RH78752;SHGC-143369 LINC01172;TCONS_00015562 APPROVED ncrna HGNC:48823 17520 VALIDATED 1605255 GLIPR1L1 GLI pathogenesis-related 1 like 1 INVOLVED IN binding of sperm to zona pellucida (inferred); FOUND IN acrosomal vesicle (inferred); extracellular region (inferred); sperm connecting piece (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; arsenite(3-); cisplatin 12 12 12 q21.2 75395902 75431607 + 75727550 75764170 + 75333770 75370390 + 6480464 12477932;12975309;15340161;15489334;16714093;23333304 256710 H0YIW6;Q6UWM5 ABBA01026470;AC121761;AMYH02026773;AMYH02026774;AY358731;BC014603;CH471054;NM_152779;XM_005268771;XM_005268772 AAH14603;AAQ89093;ABM84946;ABW03638;EAW97301;EAW97302;NP_689992;Q6UWM5;XP_005268828;XP_005268829 Hs.567788 ALKN2972;MGC26856;PRO7434 GLIPR1-like protein 1;OTTHUMP00000241992;OTTHUMP00000241993 protein-coding ENSG00000173401 HGNC:28392 14514 610395 PROVISIONAL 1606963 GLIPR1L2 GLI pathogenesis-related 1 like 2 This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 12 12 12 q21.2 75452335 75485195 + 75784850 75826468 + 75391070 75432397 + 6480464;8554872 12477932;14702039;16714093;18824526;20978342;22321011;24250222 144321 Q4G1C9 AA649108;ABBA01026470;AC121761;AK093175;AMYH02026774;BC016749;BC029557;BC032022;BX640916;CH471054;NM_001270396;NM_152436;NR_072995 AAH16749;AAH29557;ABM82459;ABM85648;BAC04085;CAE45957;EAW97303;EAW97304;EAW97305;NP_001257325;NP_689649;Q4G1C9 Hs.406728 1746831;1847467 D12S1087;G64772 MGC39497 GLIPR1-like protein 2;OTTHUMP00000241995;OTTHUMP00000241997;OTTHUMP00000241998 APPROVED protein-coding ENSG00000180481 HGNC:28592 17538 610394 REVIEWED 1606840 GLI2 GLI family zinc finger 2 This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008] 2 2 2 q14 114879848 115075199 + 121493441 121750229 + 120797291 120992653 + 5510013;5510026;6480464;6484113;6907045;7240710;8554872;8699517 20635334;20716670 10074179;10564661;10806483;11160734;11238441;12165851;12435627;12477932;12917489;14581620;14691458;15175043;15994174;16192985;16327884;16434164;16553965;16651270;16953426;17569090;17638910;18006803;18264131;18319260;18794086;19015636;19432668;19453261;19584075;19593328;19937600;19996099;20081843;20099029;20146882;20201926;20301702;20379614;20420697;20487506;20488474;20634891;20660365;20685856;20712011;20932654;20939080;21095584;21204792;21454528;21695716;21801332;21862631;22040957;22395235;22496449;22535603;22747683;22859956;22967285;23178452;23208494;23304807;23326517;23356443;23371028;23408573;23442119;23493353;23762415;23792444;23890107;24058673;24418624;24481442;2832761;2850480;8150204;8350401;8378770;8812445;9557682;9731531 2736 F2Z2B4;H0YG23;H7C1U2;P10070;Q1PSW9;Q59FV5 AB007295;AB007296;AB007297;AB007298;AB209354;ABBA01032228;ABBA01032229;ABBA01032230;ABBA01032231;ABBA01032232;AC016764;AC017033;AJ707583;AK300071;AMYH02004667;AMYH02004668;AMYH02004669;AMYH02004670;AY493737;AY493738;AY493739;BC111410;D14827;D14828;DQ004396;DQ004397;DQ004398;DQ086814;EF547128;KF510212;KF510752;M20672;M20673;NG_009030;NM_005270;XM_006712422;XM_006712423 AAA35898;AAI11411;AAI72434;AAS72889;AAS72890;AAS72891;AAY58315;AAY58316;AAY58317;AAY87165;BAA03568;BAA03569;BAA25665;BAA25666;BAA25667;BAA25668;BAD92591;BAG61875;NP_005261;P10070;XP_006712485;XP_006712486 Hs.111867 1336569;1339143;1646941;1659565;1680641;1704074;1722669;1751111;1857475;2190717 D2S2260;D2S2265;D2S283;G60419;RH68635;RH92671;SHGC-105013;SHGC-83341;UniSTS:265490;WI-10818 HPE9;PHS2;THP1;THP2 GLI-Kruppel family member GLI2;OTTHUMP00000204358;OTTHUMP00000204359;glioma-associated oncogene family zinc finger 2;oncogene GLI2;tax helper protein 1;tax helper protein 2;tax-responsive element-2 holding protein;tax-responsive element-25-bp sequence binding protein;zinc finger protein GLI2 APPROVED protein-coding ENSG00000074047 HGNC:4318 01312 165230;610829;615849 REVIEWED 1345602 GLIS2 GLIS family zinc finger 2 This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010] 16 16 16 p13.3 4589173 4596546 + 4366240 4389598 + 4316224 4339597 + 1580863;6480464;7240710;8699517;8554872 11262234;11738817;11741991;12477932;14500813;14702039;17289029;17344476;17618285;20301743;21068128;21127075;23153540;23559409;24127550;24500717 84662 Q9BZE0 ABBA01026769;AC004789;AC005356;AC012676;AF325914;AK095566;AK096936;AK124985;AK126918;AMYH02031323;BC033763;CH471112;NG_016391;NM_032575;XM_005255641;XM_005255642;XM_006725240;XM_006725241 AAI41549;AAI46549;AAK00954;BAG53086;BAG54396;EAW85317;EAW85318;NP_115964;Q9BZE0;XP_005255698;XP_005255699;XP_006725303;XP_006725304 Hs.592087 1681736;1736414 D14S675E;RH91717 FLJ38247;NKL;NPHP7 GLI-similar 2;GLI-similar protein 2;Kruppel-like zinc finger protein GLIS2;OTTHUMP00000159841;nephrocystin-7;neuronal Krueppel-like protein;zinc finger protein GLIS2 APPROVED protein-coding ENSG00000126603 HGNC:29450 12256 608539;611498 REVIEWED 1314553 GLI3 GLI family zinc finger 3 This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008] 7 7 7 p13 41991319 42267350 - 42000547 42277469 - 41960949 42237870 - 1599838;1580863;5510013;5510026;5490966;6480464;6484113;6907045;7240710;8554872;8699517 18772397;20635334;20716670;9054938 10075717;10077605;10441342;10441570;10564661;10678662;10693759;10806483;11001584;11238441;11960000;12142027;12414818;12435627;12477932;12545275;12575660;12575661;12794692;12853948;14608643;14611647;15390181;15739154;15811011;16254602;16344560;16371461;16705181;17000779;17029207;17081983;17283082;17331723;17400206;17426814;17764085;18000979;18029348;18057099;18057317;18252217;18478223;18559511;18655123;1879832;19084012;19095771;19389374;19432668;19453261;19592253;19593328;19729595;19829694;19925654;19996099;20050020;20201963;20301619;20301638;20301753;20425471;20426846;20583172;20610541;20634891;20672375;20711444;21069353;21108399;2118997;21209912;21320477;21326280;21531006;21921029;21963094;22036096;22227409;22535956;22678783;22903559;22984994;23091001;23176625;23293081;23326517;23334564;23382691;23442119;23454725;23667531;23736020;23889567;24102645;24146948;24174682;24376456;24819706;2850480;7566098;7829101;8378770;9302279;9354785;9402960;9843199;9847074 2737 C9J9N4;F8WEV4;P10071 AA330409;ABBA01058169;ABBA01058170;ABBA01058171;ABBA01058172;AC005026;AC005028;AC005158;AC073852;AI863961;AJ250408;AK299299;AK308429;AMYH02015594;AMYH02015595;AMYH02015596;BC113616;BC117168;BF194991;BI497308;CH236951;CH471073;DA713549;KF458449;KF510289;M20674;M57609;NG_008434;NM_000168;XM_005249703;XM_005249704 AAA52564;AAI13617;AAI17169;AAP21869;AAS01998;AAS02015;BAG61313;CAB59315;EAL24002;EAW94144;EAW94145;NP_000159;P10071;XP_005249760;XP_005249761 Hs.21509 1341881;1666349;1719671;1744187;1752413;1782044;1797584;1855126;2138462;2146191;2163862;2163898;2171420;7185567 D7S2746;D7S691;GDB:1317516;GDB:1317704;GDB:1318579;GDB:435308;GLI3;GLI3_973.2;RH123527;RH46965;RH65647;SHGC-106357;SHGC-152225 ACLS;GCPS;GLI3-190;GLI3FL;PAP-A;PAPA;PAPA1;PAPB;PHS;PPDIV DNA-binding protein;GLI-Kruppel family member GLI3;GLI3 form of 190 kDa;GLI3 full length protein;OTTHUMP00000159085;glioma-associated oncogene family zinc finger 3;oncogene GLI3;transcriptional activator GLI3;zinc finger protein GLI3 APPROVED protein-coding ENSG00000106571 HGNC:4319 01313 146510;165240;174200;174700;175700;241800 REVIEWED 1343612 GLIS1 GLIS family zinc finger 1 GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008] 1 1 1 p32.3 52259210 52487577 - 53971904 54203748 - 53506231 53738075 - 1580863;6480464;8554872 12042312;12477932;14500813;14702039;16417217;18029348;20339536;20379614;21654807;22759478;23942779;24383088 148979 Q8NBF1 ABBA01074736;ABBA01074737;ABBA01074738;ABBA01074739;AC105280;AK090634;AK093474;AL049745;AL591720;AL603915;AMYH02001038;AMYH02001039;AMYH02001040;BC101799;BC104911;CH471059;JC184554;JC342803;KC876892;NM_147193;XM_005270505 AAI01800;AAI04912;ABZ92209;BAC03494;BAC04178;CDM21963;CDM63600;EAX06734;NP_671726;Q8NBF1;XP_005270562 Hs.306691 1688112;1758367;1764527;1781604;1855776;2179204 AL009402;AL009916;RH98910;SHGC-148122;SHGC-148168;SHGC-149831 FLJ36155 GLI-similar 1;Gli5-like;Glis1-like;OTTHUMP00000009750;zinc finger protein GLIS1 APPROVED protein-coding ENSG00000174332 HGNC:29525 13581 610378 VALIDATED 734388 GLG1 golgi glycoprotein 1 ENCODES a protein that exhibits receptor binding (inferred); INVOLVED IN blood coagulation (inferred); bone morphogenesis (inferred); leukocyte migration (inferred); FOUND IN extracellular vesicular exosome; Golgi apparatus; membrane; INTERACTS WITH disodium selenite; elemental selenium; menadione 16 16 16 q22.3 58779229 58934111 - 74481325 74641042 - 74447427 74607144 - 1580863;6480464 11404363;12477932;12684670;12754519;1448090;14702039;14743216;15797922;16344560;18463975;19056867;19148508;19844255;19946888;20562859;21139048;21283832;21319273;21777203;21906983;22021370;22190034;22952844;23398456;2355176;23666239;24457600;7531823;8530051;8985126;9099943;9182700 2734 H3BM42;H3BQT1;H3BQU9;H3BRD8;Q92896 ABBA01058100;ABBA01058101;ABBA01058102;ABBA01058103;AC009053;AC009153;AC109599;AK025457;AK026972;AK027032;AK057359;AK095842;AK131501;AK172806;AK304156;AMYH02032378;AMYH02032379;AMYH02032380;AMYH02032381;AMYH02032382;AMYH02032383;BC031836;BC040133;BC060822;BG719482;BI561038;BX648396;CH471114;DA493962;HC309812;HG508288;NM_001145666;NM_001145667;NM_012201;NR_027264;NR_027265;U28811;U64791 AAB02178;AAB06460;AAH60822;BAD18777;BAH14120;CBJ21213;EAW95682;EAW95683;EAW95684;EAW95685;EAW95686;NP_001139138;NP_001139139;NP_036333;Q92896 Hs.109731 1342211;1644424;1644426;1661571;1685381;1757479;1766353;1774471;1778400;2114853;2125971;2149607;2153616;5015861;5016478;5037552;5109281;5119229;7185938 D10S16;D16S3000E;D16S3115;D1S1425;D8S2279;G35012;GDB:434012;RH65131;RH67866;RH68602;RH69504;RH69584;RH70589;RH70747;SGC33788;SHGC-144852;SHGC-149692;SHGC-32349 CFR-1;DKFZp686L08213;ESL-1;FLJ23319;FLJ23967;FLJ32797;MG-160;MG160;RP11-252A24.7 E-selectin ligand 1;Golgi apparatus protein 1;cysteine-rich fibroblast growth factor receptor;golgi sialoglycoprotein MG-160;selectin, endothelial cell, ligand APPROVED protein-coding HGNC:4316 02855 600753 VALIDATED 1315949 GLOD4 glyoxalase domain containing 4 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; all-trans-retinoic acid; amphotericin B 17 17 17 p13.3 674641 697712 - 662549 685571 - 759309 782331 - 6480464;8554872 10810093;11642406;12477932;12528892;12621583;12897971;14702039;15489334;16344560;19322201;20877624;21139048;21832049;21890473;21900206;23000965;23535732;24816145 51031 B7Z403;I3L1F4;I3L1I0;I3L277;I3L2C2;I3L3G0;I3L3Q4;I3NI24;I3NI27;K7ENF2;Q9HC38 AA721638;ABBA01054619;AC087392;AF061730;AF151908;AF177342;AF177343;AK001488;AK122678;AK226083;AK292315;AK296584;AK301751;AMYH02032721;AMYH02032722;BC008605;BC010902;BC015848;CH471108;DA608953;NM_016080;XM_006721540 AAD34145;AAG17986;AAG17987;AAG43141;AAH08605;AAH15848;BAF85004;BAG53661;BAG63213;BAH12389;EAW90643;EAW90644;EAW90645;EAW90646;EAW90647;EAW90648;EAW90649;EAW90650;NP_057164;Q9HC38;XP_006721603 Hs.279061;Hs.595572 1648471;1697978;5015619;5015881;5015961;5024761;5037552 D11S3114;D15S1477;D8S2279;GDB:335751;RH102518;RH36905;STS-AA030010 C17orf25;CGI-150;HC71 chromosome 17 open reading frame 25;glyoxalase domain-containing protein 4 protein-coding ENSG00000167699 HGNC:14111 12678 VALIDATED 1351403 GLIS3-AS1 GLIS3 antisense RNA 1 INTERACTS WITH 17beta-estradiol 9 9 9 p24.2 3816553 3819155 + 3898646 3901248 + 3898646 3901248 + 737633;6480464 12477932 15489334 84850 ABBA01065428;AL137071;AMYH02019067;BC007366;CH471071;NG_011782;NR_026663 EAW58791 Hs.676113 2174006;5109839 D17S877;SHGC-52421 C9orf70;MGC16153 APPROVED ncrna ENSG00000237009 HGNC:28260 VALIDATED 1350387 GLO1 glyoxalase I The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq, Jul 2008] 6 6 6 p21.3-p21.1 40197188 40224451 - 38643701 38670952 - 38675925 38703176 - 1580863;6480464;6907045;7242571;7242566;7242569;7242570;7242567;7242568;8552679 17346350;18079478;18413187;19211689;20185929;21738003;22001178 10521255;10564821;10807791;11436564;11489834;1150236;11513094;11785295;11963573;12477932;12604221;12942785;141008;14574404;15489334;15950319;1602151;16130169;16305054;16344560;16352396;16555297;16803681;1686020;17207965;17463067;17722011;18344682;18448827;18455873;18721844;19056867;19238574;19379515;19412133;19452310;19460752;19470168;20093988;20180986;20379614;20398646;20398908;20454679;20542521;20544845;20554694;20712647;21029593;21056979;21139048;21253391;21370249;21386123;21491613;21890473;21988832;22188542;22479608;22505724;22614840;22653787;22771726;22939629;23000965;23201419;23351995;23360186;23775136;23982595;24002659;24040147;24105621;24158671;24259499;24337577;24722188;24816145;511191;7684374;8449929;8670058;910130;9218781;9593316;9705294 2739 Q04760;X5DNM4 AB209801;ABBA01038305;AF146651;AK129573;AK130312;AK293345;AK312662;AL391415;AL833442;AMYH02013584;BC001741;BC011365;BC015934;BT019987;BT019988;BU954454;CH471081;D13315;DA342581;FJ224325;KJ534846;L07837;NG_012074;NM_006708;S83285 AAA52565;AAB49495;AAD38008;AAH01741;AAH11365;AAH15934;AAV38790;AAV38791;ACI46017;ADQ33143;AHW56486;BAA02572;BAD93038;BAG35544;BAG56861;EAX03964;EAX03965;NP_006699;Q04760 Hs.268849 1705498;1725779;1771203;1775195;1794026;2133364;2141093;2151453 G62072;PMC310739P4;RH46862;RH68098;SHGC-31456;SHGC-83840;STS-D13315;WI-19791 GLOD1;GLYI;HEL-S-74;glx I OTTHUMP00000016339;S-D-lactoylglutathione methylglyoxal lyase;aldoketomutase;epididymis secretory protein Li 74;glyoxalase domain containing 1;ketone-aldehyde mutase;lactoyl glutathione lyase;lactoylglutathione lyase;methylglyoxalase APPROVED protein-coding ENSG00000124767 HGNC:4323 00730 138750 REVIEWED 1316497 GLIPR2 GLI pathogenesis-related 2 ENCODES a protein that exhibits protein homodimerization activity; INVOLVED IN positive regulation of epithelial cell migration; positive regulation of epithelial to mesenchymal transition; positive regulation of ERK1 and ERK2 cascade; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; Golgi membrane; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 9 9 9 p13.3 36070326 36097488 + 36136730 36163910 + 36136536 36163913 + 6480464;8554872 11865038;12137952;12202484;12477932;14702039;15123429;15164053;15342556;15489334;16303743;16344560;19056867;19322201;20237496;21139048;21890473;22505724;22560898;22939629;23000965;23516513;24204846;24816145 152007 Q5VZR0;Q68CU1;Q9H4G4 ABBA01050434;ABBA01050435;AI458414;AJ011129;AK074488;AK075091;AK091288;AK298741;AK307243;AL158830;AMYH02019471;AY039756;BC017918;BF515272;BF516600;BP261391;CH471071;CQ783112;CR749781;DA268281;DA271525;DA432700;DA824243;DA986727;N41831;NM_001287010;NM_001287011;NM_001287012;NM_001287013;NM_001287014;NM_022343;NR_104637;NR_104638;NR_104639;NR_104640;NR_104641 AAH17918;AAK83460;BAC11019;BAC11395;BAG60887;CAC12812;CAF86319;CAH18647;EAW58315;EAW58316;EAW58317;NP_001273939;NP_001273940;NP_001273941;NP_001273942;NP_001273943;NP_071738;Q9H4G4 Hs.493819 1652018;1652633;1725777;2118074;2139984 A002G23;Cda1bg09;G62131;RH36474;SHGC-57516 C9orf19;GAPR-1;GAPR1 17kD fetal brain protein;Golgi-associated plant pathogenesis-related protein 1;OTTHUMP00000021371;OTTHUMP00000021372;gliPR 2;glioma pathogenesis-related protein 2;golgi-associated PR-1 protein protein-coding ENSG00000122694 HGNC:18007 06187 607141 VALIDATED 1603816 GLOD5 glyoxalase domain containing 5 This gene encodes a protein with a glyoxalase domain. [provided by RefSeq, Sep 2011] X X X p11.23 53031515 53043857 - 48620154 48632064 + 48761750 48773648 + 6480464;8554872 12477932;18029348;19377476 392465 A6NK44;H7C348 ABBA01046055;ABBA01046056;ABBA01046057;AC115617;AC231533;AF196970;AI458936;AMYH02039307;AMYH02039308;BC067236;CH471224;DY655159;NG_021291;NM_001080489;XM_006724532 A6NK44;EAW50754;NP_001073958;XP_006724595 Hs.437539 5016478 GDB:434012 OTTHUMP00000025804;glyoxalase domain-containing protein 5 APPROVED protein-coding ENSG00000171433 HGNC:33358 REVIEWED 1315584 GLMN glomulin, FKBP associated protein This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 1 1 1 p22.1 90958376 91010996 - 92711955 92764566 - 92246398 92299009 - 1598992;6480464;8699517;8554872 11845407 10051602;10364524;10945476;11164950;11329013;11571281;12477932;12604780;12752563;12904573;15489334;15689436;16169070;16344560;21139048;21903422;21906983;21963094;22092580;22280104;22405651;22505724;22678819;22748924;24255178;24816145;25036637;8955134 11146 B4DJ85;M0QX84;M0QXG8;Q92990 ABBA01045548;ABBA01045549;ABBA01045550;AJ302727;AJ302728;AJ302729;AJ302730;AJ302735;AJ347709;AK295971;AL451010;AMYH02001480;BC001257;BG187128;CH471097;DA729622;NG_009796;NM_053274;U73704;XM_005270400;XM_005270401;XM_006710309 AAC50908;AAH01257;BAG58747;CAC69882;CAC82938;CAC88124;EAW73097;EAW73098;NP_444504;Q92990;XP_005270457;XP_005270458;XP_006710372 Hs.49105 1690870;2136834 RH12743;SHGC-75150 FAP;FAP48;FAP68;FKBPAP;GLML;GVM;VMGLOM FK506-binding protein-associated protein;FKBP-associated protein;OTTHUMP00000011939;OTTHUMP00000011940;glomulin APPROVED protein-coding ENSG00000174842 HGNC:14373 03451 601749 REVIEWED 736638 GLP1R glucagon-like peptide 1 receptor ENCODES a protein that exhibits glucagon receptor activity (inferred); transmembrane signaling receptor activity (inferred); INVOLVED IN cAMP-mediated signaling; positive regulation of cytosolic calcium ion concentration; ASSOCIATED WITH Diabetes Mellitus, Experimental (ortholog); Glucose Intolerance (ortholog); Hyperglycemia (ortholog); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH atrazine; 3',5'-cyclic AMP (ortholog); aldehydo-D-glucose (ortholog) 6 6 6 p21 40569967 40608942 + 39016557 39056657 + 39048781 39088881 + 1624350;1624351;1624349;1624356;1580863;6480464;1598440 10580413;12925848;15279492;15879053;8898756 10382665;10990079;11076863;11116211;12034449;12036966;12477932;14574404;15364163;15452121;15489334;15528268;15670850;15686481;15975668;16644694;16931572;17444618;17475961;17505054;18240029;18248821;18287102;18372345;18541709;18577758;19077438;19386626;19755420;19815559;19820010;19859570;19861722;19890029;19913121;20002095;20225248;20347207;20374430;20452396;20468064;20483198;20529866;20628086;20649595;20690636;20800603;20805279;20823098;20835917;21046358;21095545;21562063;21616920;21663496;21744074;21745271;21862620;21868452;21952200;22031513;22079758;22105074;22112810;22147709;22147710;22234371;22412906;22492091;22693487;23091034;23362875;23592482;23803499;23806684;23864651;23879380;24275181;24307763;24326362;24467746;7517895;7589461;7843404;8112494;8216285;8392011;8404634;8405712;9213353 2740 P43220 AB065685;ABBA01038307;AL035690;AMYH02013586;AX646689;AY439112;BC112126;BC113493;CH471081;L23503;NM_002062;U01104;U01156;U01157;U10037;U66062;XM_006715065 AAA03614;AAA17021;AAA62471;AAA63787;AAB64013;AAC50050;AAI11844;AAI12127;AAI13494;AAR05444;BAC05908;CAD69471;EAX03970;EAX03971;EAX03972;EAX03973;EAX03974;NP_002053;P43220;XP_006715128 Hs.389103 1336824;1743965;1850989;2107157;2145970;2169556;2179731;5117306 D6S973;G15954;GDB:383796;GDB:460430;GLP1R_7264;RH37424;RH46831;SGC35239 GLP-1-R;GLP-1R;MGC138331 GLP-1 receptor;OTTHUMP00000016340 protein-coding ENSG00000112164 HGNC:4324 00677 138032 VALIDATED 731361 GLRB glycine receptor, beta This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 q31.3 155340138 155436102 + 157997277 158093251 + 157076125 157172090 + 1598573;1580863;6480464;8699517;7240710;8554872 14749434 10395998;11496371;11929858;12477932;14563849;14698963;14741407;15028279;15215304;15489334;15748848;16344560;18621921;18985319;19020133;19086053;19204413;19705103;19834535;19874574;20201926;20301437;21391991;21829170;22132222;22535951;22606311;23182654;23184146;23238346;23333304;24108130;7546736;8717357;9676428 2743 D6R9Y9;D6RD86;P48167 ABBA01070189;ABBA01070190;AC079403;AF094754;AF094755;AK290617;AMYH02010357;AMYH02010358;AMYH02010359;AY426990;BC022502;BC032635;CA437106;CD013911;CH471056;DA168145;DA528659;DB479295;NG_015823;NM_000824;NM_001166060;NM_001166061;U33267 AAB37750;AAC71033;AAC71034;AAH32635;ABM81785;ABM84940;BAF83306;EAX04872;EAX04873;NP_000815;NP_001159532;NP_001159533;P48167 Hs.32973 1653393;1763165;2110427;2123035;2180010;2186009 GLRB_977;SHGC-146895;SHGC-31659;SHGC-50349;SHGC-59742;SHGC-67413 HKPX2 OTTHUMP00000220896;OTTHUMP00000220897;glycine receptor 58 kDa subunit;glycine receptor subunit beta;glycine receptor, beta subunit APPROVED protein-coding ENSG00000109738 HGNC:4329 11751 138492;614619 REVIEWED 1348907 GLIS3 GLIS family zinc finger 3 This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008] 9 9 9 p24.2 3742092 4217855 - 3824128 4300036 - 3824128 4300036 - 737633;1580863;6480464;7240710;8699517;8554872 12477932 14500813;14702039;15489334;16189514;16715098;18519826;18840781;19430480;19901119;20081858;20378605;20379614;20419449;21515849;21543335;21747906;21949744;22158537;22581228;22961080;23408906;23562540;23667531;23737756;23856252 169792 F8WEV9;Q1PHJ2;Q1PHJ8;Q8NEA6 AA933816;AB065086;AB209404;ABBA01065425;ABBA01065426;ABBA01065427;ABBA01065428;ABBA01065429;AK055907;AK075059;AK096318;AL133283;AL137071;AL158012;AL162419;AL359095;AMYH02019064;AMYH02019065;AMYH02019066;AMYH02019067;AMYH02019068;AMYH02019069;AMYH02019070;AMYH02019071;AMYH02019072;AMYH02019073;AMYH02019074;BC033899;DQ438877;DQ438878;DQ438879;DQ438880;DQ438881;DQ438882;DQ438886;DQ438887;DQ438888;DQ438889;DQ438890;DQ438891;DQ438892;DQ438893;DQ438894;DQ438895;DQ438896;DQ438897;DQ438898;DQ438899;DQ438900;DQ438901;DQ438902;DQ438903;DQ438904;DQ438905;DQ438907;KF458892;KF458894;NG_011782;NM_001042413;NM_152629;XM_005251386;XM_005251387;XM_005251388;XM_005251389;XM_006716731 AAH33899;ABE66434;ABE66435;ABE66436;ABE66437;ABE66438;ABE66439;ABE66440;ABE66441;ABE66442;ABE66443;ABE66444;ABE66445;ABE66446;ABE66447;ABE66448;ABE66449;ABE66450;ABE66451;ABE66452;ABE66453;ABE66454;ABE66455;ABE66456;ABE66457;ABE66458;ABZ92210;BAB93523;BAD92641;NP_001035878;NP_689842;Q8NEA6;XP_005251443;XP_005251444;XP_005251445;XP_005251446;XP_006716794 Hs.162125 1334928;1336239;1337864;1338383;1341607;1342269;1696464;1707334;1710080;1719169;1722783;1756021;1757411;1765415;1768419;1852295;2143269;2153780;2157607;2174006;5094821;7186903;7187577 25840;AAAAC001;D9S178;D9S1792;D9S1813;D9S1871;D9S1873;D9S288;G60333;RH123302;RH16280;RH48665;SHGC-142834;SHGC-144801;SHGC-148901;SHGC-34575;SHGC-52421;SHGC-79288;SHGC-79786;SHGC-83701;WI-10737 FLJ38999;FLJ90578;MGC33662;ZNF515 GLI-similar 3;OK/KNS-cl.4;OTTHUMP00000020999;OTTHUMP00000214955;zinc finger protein 515;zinc finger protein GLIS3 APPROVED protein-coding ENSG00000107249 HGNC:28510 13582 610192;610199 REVIEWED 731909 GLRA2 glycine receptor, alpha 2 The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] X X X p22.2 18662786 18865313 + 14547420 14749934 + 14529298 14731812 + 1580863;6480464;8554872 11409700;12477932;15147510;15302677;15489334;16144831;16169070;16344560;17207965;19086053;19874574;20237295;2155780;21988832;22606311;8889549;8973915;9674912 2742 C9JBL4;P23416 AA081959;ABBA01071210;ABBA01071211;ABBA01071212;ABBA01071213;ABBA01071214;ABBA01071215;ABBA01071216;ABBA01071217;ABBA01071218;ABBA01071219;ABBA01071220;ABBA01071221;ABBA01071222;ABBA01071223;ABBA01071224;AC003658;AC003683;AF053487;AF053488;AF053489;AF053490;AF053491;AF053492;AF053493;AF053494;AF053495;AK289561;AK297268;AK297304;AK312591;AMYH02038904;AMYH02038905;AMYH02038906;AMYH02038907;AY437083;AY437084;BC032864;BC045547;CH471074;CR450343;DA495302;KF458986;NG_016459;NM_001118885;NM_001118886;NM_001171942;NM_002063;U77731;X52008;XM_006724487 AAB38272;AAB38273;AAC35290;AAH32864;AAR87842;AAR87843;ADQ32486;BAF82250;BAG35485;BAH12535;BAH12541;CAA36257;CAG29339;EAW98858;EAW98859;EAW98860;NP_001112357;NP_001112358;NP_001165413;NP_002054;P23416;XP_006724550 Hs.2700 1337962;1339292;1647599;1649630;1658661;1701880;1702270;1702804;1717787;2110425;2150294;2153102;5017885;7184869 1410;AF026404;AFM120xa9;DXS7091;DXS7594;DXS7951;DXS987;GDB:604017;GLRA2;GLRA2_2389;GLYRA1;RH121803;RH71280 GLR OTTHUMP00000022950;OTTHUMP00000225926;glycine receptor alpha 2 subunit;glycine receptor subunit alpha-2;glycine receptor, alpha-2 polypeptide APPROVED protein-coding ENSG00000101958 HGNC:4327 02379 305990 REVIEWED 732840 GLRA3 glycine receptor, alpha 3 This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] 4 4 4 q34.1 172892194 173079664 - 175545367 175750465 - 174642011 174829315 - 1580863;704404;6480464;8554872 10737800;11496371;12358726;12477932;15489334;16344560;19086053;19661067;19959465;23834509;7894176;9677400 8001 O75311;Q9UPF3 ABBA01070394;ABBA01070395;ABBA01070396;AC093868;AC107216;AC131948;AF017724;AF018157;AMYH02010533;AMYH02010534;AMYH02010535;BC036086;BI600831;CH471056;CV381684;DA409556;NM_001042543;NM_006529;U93917 AAC39917;AAC39918;AAC39919;AAH36086;AAY40916;ABM81900;ABM85074;EAX04730;EAX04731;EAX04732;EAX04733;NP_001036008;NP_006520;O75311 Hs.413099 1335155;1648598;1661235;1718949;2166807;7187958 D4S1539;D4S3331;G31579;RH123181;SHGC-13973 OTTHUMP00000194692;OTTHUMP00000194693;glycine receptor alpha 3 subunit;glycine receptor subunit alpha-3;glycine receptor, alpha-3 polypeptide;ligand gated ion channel APPROVED protein-coding ENSG00000145451 HGNC:4328 02688 600421 REVIEWED 730939 GLRA1 glycine receptor, alpha 1 The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor. The receptor mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] 5 5 5 q32 147283467 147385844 - 151202074 151304397 - 151822513 151924836 - 704404;1598573;1580863;6480464;7240710;8554872;8699517 14749434 10514101;11580237;11702206;11751269;11781706;11929858;11973623;11981020;11981021;11994009;12080117;12237328;12239220;12356883;12477932;12661758;12667090;12679369;12740384;12746425;12766618;12826676;12954867;1355335;14525990;14563849;14593111;14698963;14981077;15147510;15287733;15365143;15489161;15489334;15748848;15771552;15951389;15952785;16078201;16109711;16144831;16344560;16361257;16832093;16941485;17040914;17181559;17433503;17434460;17469203;17534957;17655760;17655979;17887775;18036150;18043720;18292428;1845981;18658152;18690053;18710260;18806798;19049967;19073849;19086053;19286654;19626554;19705103;19732286;19874574;19959465;20198385;20301437;20631190;20959090;20959630;21414903;21463577;2155780;21917927;21955162;22037201;22132222;22264702;22279218;22816018;22995908;23035114;23090334;23834509;23994010;24097980;24108130;7506679;7611730;7806244;7881416;7920629;7925268;7981700;8125298;8137830;8298642;8571969;8651283;8717357;8733061;8973915;9067762;9350397;9920650 2741 E5RJ70;P23415;Q14C71 ABBA01026258;ABBA01026259;ABBA01026260;AC010312;AC091982;AK226046;AK308539;AK312702;AMYH02012475;AMYH02012476;BC074980;BC114947;BC114967;CH471062;DA749850;NG_011764;NM_000171;NM_001146040;NM_001292000;U77732;X52009;XM_005268411;XM_005268412 AAB38405;AAH74980;AAI14948;AAI14968;BAG35580;CAA36258;EAW61656;EAW61657;NP_000162;NP_001139512;NP_001278929;P23415;XP_005268468;XP_005268469 Hs.121490 1780974;1850959;1852095;2217366 D5S2588;GLRA1_2895;RH71281;bac5555T HKPX1;MGC138878;MGC138879;STHE OTTHUMP00000160616;OTTHUMP00000224176;glycine receptor 48 kDa subunit;glycine receptor strychnine-binding subunit;glycine receptor subunit alpha-1;glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome) APPROVED protein-coding ENSG00000145888 HGNC:4326 00719 138491;149400 REVIEWED 731561 GLP2R glucagon-like peptide 2 receptor The GLP2 receptor (GLP2R) is a G protein-coupled receptor superfamily member closely related to the glucagon receptor ans GLP1 receptor. Glucagon-like peptide-2 (GLP2) is a 33-amino acid proglucagon-derived peptide produced by intestinal enteroendocrine cells. Like glucagon-like peptide-1 (GLP1) and glucagon itself, it is derived from the proglucagon peptide encoded by the GCG gene. GLP2 stimulates intestinal growth and upregulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. Moreover, GLP2 prevents intestinal hypoplasia resulting from total parenteral nutrition. GLP2R, a G protein-coupled receptor superfamily member is expressed in the gut and closely related to the glucagon receptor (GCGR) and the receptor for GLP1 (GLP1R). [provided by RefSeq, Jul 2008] 17 17 17 p13.3 9760703 9824336 + 9729152 9794269 + 9826064 9890952 + 632881;1580863;6480464 9990065 10982769;11238747;11738243;12036966;12477932;15471943;15544847;15670850;15817468;16401478;16448646;18240029;18829546;19861958;19913121;20379614;20468064;20628086;20800603;21167157;21326311;21963094;22951144;24875097 9340 E9PC86;H0Y6C2;I3L0P5;O95838 ABBA01054964;ABBA01054965;ABBA01054966;AC026591;AF105367;AK295765;AK307283;AK314269;AMYH02032955;BC019818;BC041176;BC043390;BC096261;BC096262;BC096263;BC096264;CH471108;NM_004246;XM_005256861 AAD16895;AAH19818;AAH41176;AAH43390;AAH96261;AAH96262;AAH96263;AAH96264;BAG36931;BAG58590;EAW90015;EAW90016;NP_004237;O95838;XP_005256918 Hs.248202 1755301;2109351 GLP2R_7942;SHGC-142190 GLP-2-R;GLP-2R GLP-2 receptor;OTTHUMP00000160769 APPROVED protein-coding HGNC:4325 04713 603659 REVIEWED 8548015 GLRX3P1 glutaredoxin 3 pseudogene 1 9 9 9 19893447 19894202 - 19967196 19968008 - 19967198 19968010 - 100418908 ABBA01065191;AL591222;AMYH02019273;NG_023790 pseudo HGNC:49787 INFERRED 736383 GLRX glutaredoxin (thioltransferase) This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011] 5 5 5 q14 91028293 91037329 - 95149553 95158577 - 95813849 95822873 - 1580863;6480464 10037490;10350489;10508218;10737800;11024467;11146114;11222536;11274078;11297543;11832487;12029072;12244106;12477932;12556467;12723971;12892645;14702039;15184054;15297967;15342556;15489334;15637068;16311508;16884690;16893901;17064412;17185628;17272816;17601350;18309294;18560520;18682255;18977241;19038358;19199708;19265039;19542013;19578876;19896490;20566629;20877624;21078302;21323311;21454804;21890473;21900206;21988832;22505724;22634633;22977247;23000965;23370801;24062305;24482236;24816145;7851394;7961993;8018729;8019414;8549805;8645179;8838810;9325327;9332366;9417094;9677297;9860827 2745 P35754 AA485178;ABBA01069246;AC008821;AF069668;AF115105;AF162769;AK125636;AK311868;AMYH02011822;AW128930;AW792936;BC005304;BC010965;BC106075;BE738446;BG547098;BP196332;BT006689;BU949348;BX106369;CH471084;CR450312;CR542165;D21238;DQ026062;HB874239;HB874319;HB874794;HB874874;HB881150;HB881230;HB882297;HB882377;HB890896;HB890976;HB892720;HB892800;HB894018;HB894098;HB895368;HB895448;HB903199;HB903279;HC931648;HC931728;HC932203;HC932283;HC938559;HC938639;HC939706;HC939786;HC948305;HC948385;HC950129;HC950209;HC951427;HC951507;HC952777;HC952857;HC960608;HC960688;NG_029797;NM_001118890;NM_001243658;NM_001243659;NM_002064;X76648 AAC35798;AAC98318;AAD43353;AAH05304;AAH10965;AAI06076;AAP35335;AAY29058;ABM83423;ABM86635;BAA04769;BAG34809;CAA54094;CAG29308;CAG46962;CBF61363;CBF61403;CBF61772;CBF61812;CBF64857;CBF64897;CBF65421;CBF65461;CBF69710;CBF69794;CBF71563;CBF71645;CBF72880;CBF72962;CBF74203;CBF74290;CBF82256;CBF82341;CBU86391;CBU86431;CBU86648;CBU86688;CBU89728;CBU89768;CBU90292;CBU90332;CBU94391;CBU94431;CBU95270;CBU95310;CBU95899;CBU95939;CBU96548;CBU96588;CBV00296;CBV00336;EAW96056;EAW96057;NP_001112362;NP_001230587;NP_001230588;NP_002055;P35754 Hs.28988 1722317;2120364 G60224;WIAF-1594 FLJ43648;GRX;GRX1;MGC117407 OTTHUMP00000149979;OTTHUMP00000222608;OTTHUMP00000222609;OTTHUMP00000222610;OTTHUMP00000222611;TTase-1;glutaredoxin 1 (thioltransferase);glutaredoxin-1;thioltransferase-1 APPROVED protein-coding ENSG00000173221 HGNC:4330 02707 600443 REVIEWED 8548331 GLRX3P2 glutaredoxin 3 pseudogene 2 6 6 6 p25.2 5207229 5208484 + 3978275 3979603 + 3978041 3979369 + 728344 ABBA01021997;AL138831;AL590004;AMYH02013008;NG_022339 pseudo HGNC:49788 INFERRED 2292183 GLRXP3 glutaredoxin (thioltransferase) pseudogene 3 5 5 5 q34 157209224 157210605 - 161177462 161178843 - 161750456 161751837 - 100132510 ABBA01044201;AC091944;AMYH02012618;CH471062;NG_009942 EAW61540;EAW61541 GLRXL pseudo HGNC:34049 INFERRED 1317443 GLRX2 glutaredoxin 2 The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011] 1 1 1 q31.2 166175205 166184851 - 193065595 193075659 - 193096465 193106537 - 6480464 10810093;11297543;11397793;12477932;14503974;14676218;14713336;15146197;15184054;15297967;15328416;15489334;15649413;15917333;16112873;16246122;16710414;16712839;17065220;17115894;17121859;17355958;17546662;17680760;17961515;18029348;18092940;18816065;19038292;19119916;19184988;19216714;19290777;19292455;19383853;19723146;20064440;20547138;20829229;20877624;20929858;21029046;21437321;21586322;21735102;22139372;23824909;8889549;9325327 51022 Q9NS18 AA056513;AA887118;ABBA01027636;AF132495;AF151891;AF290514;AL136370;AMYH02002381;AY038988;BC009669;BC028113;BQ432881;BU157087;CH471067;CN362908;DQ194815;HB874295;HB874309;HB874850;HB874864;HB881206;HB881220;HB882353;HB882367;HB890952;HB890966;HB892776;HB892790;HB894074;HB894088;HB895424;HB895438;HB903255;HB903269;HC931704;HC931718;HC932259;HC932273;HC938615;HC938629;HC939762;HC939776;HC948361;HC948375;HC950185;HC950199;HC951483;HC951497;HC952833;HC952847;HC960664;HC960678;NG_029745;NM_001243399;NM_016066;NM_197962;XM_005245231 AAD34128;AAF37320;AAH09669;AAH28113;AAK72499;AAK83089;ABA03170;CBF61391;CBF61398;CBF61800;CBF61807;CBF64885;CBF64892;CBF65449;CBF65456;CBF69768;CBF69783;CBF71621;CBF71635;CBF72937;CBF72952;CBF74264;CBF74280;CBF82314;CBF82330;CBU86419;CBU86426;CBU86676;CBU86683;CBU89756;CBU89763;CBU90320;CBU90327;CBU94419;CBU94426;CBU95298;CBU95305;CBU95927;CBU95934;CBU96576;CBU96583;CBV00324;CBV00331;EAW91248;EAW91249;NP_001230328;NP_057150;NP_932066;Q9NS18;XP_005245288 Hs.458283 1647669;1757841 SHGC-146669;SHGC-32745 CGI-133;GRX2;bA101E13.1 OTTHUMP00000033766;OTTHUMP00000033767;bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2);glutaredoxin-2, mitochondrial APPROVED protein-coding ENSG00000023572 HGNC:16065 12112 606820 REVIEWED 1347944 GLRXP2 glutaredoxin (thioltransferase) pseudogene 2 14 14 14 q32.11 70621147 70622839 + 90573955 90575647 + 90107611 90109303 + 11702225 171418 ABBA01030509;AF358259;AL355074;AMYH02029721;NG_001323 APPROVED pseudo HGNC:18376 INFERRED 69462 GLRX3 glutaredoxin 3 This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] 10 10 10 q26 125607908 125651111 + 131934639 131978646 + 130136375 130180382 + 69393;1580863;6480464;8554872 10636891 11124703;11774602;12477932;14702039;15231748;15342556;15489334;16169070;16189514;16385451;17353931;18258855;18528843;19471022;19738201;19797004;20170406;20226171;20498481;20800603;21123948;21139048;21160409;21575136;21890473;21900206;21906983;22309771;22623428;22678362;22863883;23000965;23415866;23615448;23891004;24250222;24816145;8125298 10539 O76003 AA995117;ABBA01009126;AF118649;AF118652;AJ010841;AK022131;AK225609;AL139123;AMYH02024043;AMYH02024044;BC005289;BC014372;BI256922;BP347054;CH471066;NG_029886;NM_001199868;NM_006541;XM_005252657 AAF28841;AAF28844;AAH05289;AAH14372;BAG51067;CAA09375;EAW49152;EAW49153;EAW49154;EAW49155;NP_001186797;NP_006532;O76003;XP_005252714 Hs.42644 1679495;1710450;1768894;2129252;2150468;5022651 25499;D11S2921;DBEST25498;RH91792;SHGC-86234;STS-H99205 FLJ11864;GLRX4;GRX3;GRX4;TXNL2;TXNL3;bA500G10.4 OTTHUMP00000020746;OTTHUMP00000020747;OTTHUMP00000020748;PICOT;PKC-interacting cousin of thioredoxin;PKC-theta-interacting protein;PKCq-interacting protein;glutaredoxin 4;glutaredoxin-3;thioredoxin-like 2;thioredoxin-like protein 2 APPROVED protein-coding ENSG00000108010 HGNC:15987 10153 612754 REVIEWED 1602141 GLRA4 glycine receptor, alpha 4 This gene encodes a protein which has a neurotransmitter-gated ion-channel ligand binding domain. The encoded protein is very similar to a mouse protein which is a subunit of the retinal glycine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] X X X q22.2 103401274 103422554 - 102962272 102983552 - 103707344 103728624 - 6480464;8554872 11181995;12477932 441509 F8WCE1;Q5JXX5 ABBA01032872;ABBA01032873;ABBA01032874;AK309010;AL049610;AMYH02040171;CH471190;NG_021199;NM_001024452;NM_001172285;Z93848 EAW54695;NP_001019623;NP_001165756;Q5JXX5 Hs.533289 1772733 RH46065 OTTHUMP00000023760;glycine receptor subunit alpha-4 APPROVED protein-coding ENSG00000188828 HGNC:31715 VALIDATED 736636 GLS glutaminase This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 2 2 2 q32-q34 185340136 185424375 + 191745547 191830278 + 190880821 190965552 + 1300048;1580863;6480464;6907045;8554872 10048485;10620514;10719215;11015561;11059811;11130979;11163757;12477932;12579526;12629547;14702039;14722097;14759258;15246207;15489334;15496140;15642443;16498633;1680606;16899818;17669570;19156168;19219026;19222703;19423540;19428808;19428809;19428810;19500843;20406964;20438785;20659789;20820037;20877624;20921411;21045145;21139048;21145461;21234284;21457947;21852960;21890473;22049910;22106309;22304920;22326218;22360420;22479354;22538822;22863883;22892846;23000965;23507704;23578284;23636801;23722553;23935106;24086752;24333121;24755074;24816145;2571577;3531404;6682827;6825316;8499480;8896557 2744 B7Z509;B8ZZA8;B8ZZC5;C9JIJ6;H7BZD1;H7C201;O94925;Q68D38 AB020645;ABBA01062392;AC005540;AC067945;AC079162;AF097492;AF097493;AF097494;AF097495;AF158555;AF223943;AF279697;AF327434;AJ431620;AK001220;AK092974;AK123493;AK289747;AK294927;AK298266;AMYH02005441;AMYH02005442;BC038507;BM148085;BX641148;CH471058;CR749593;NM_001256310;NM_014905;XM_005246467;XM_006712435;XM_006712436;XR_241306;Y08264 AAD47056;AAF00088;AAF00089;AAF00090;AAF33825;AAG17700;AAG47842;AAH38507;AAY14767;AAY24182;AAY24320;BAA74861;BAF82436;BAG50870;BAH11927;BAH12745;CAH18392;EAX10856;EAX10857;EAX10858;EAX10859;EAX10860;NP_001243239;NP_055720;O94925;XP_005246524;XP_006712498;XP_006712499 Hs.116448;Hs.737608 1674523;1679780;1687065;1687538;1722235;1753255;1763213;1767797;1783862;1857389;2126003;2127728;2152170;5014039;5017266;5037552 A004H16;D22S1584;D2S1664E;D8S2279;G60023;L18506;RH47158;RH79093;RH80599;RH93798;RH94068;SHGC-101221;SHGC-110123;SHGC-146946;WI-10639;WIAF-2080 AAD20;DKFZp686D14231;DKFZp686O15119;FLJ10358;FLJ41499;GAC;GAM;GLS1;KGA;KIAA0838 K-glutaminase;L-glutamine amidohydrolase;OTTHUMP00000163554;OTTHUMP00000205852;glutaminase C;glutaminase kidney isoform, mitochondrial;glutaminase, phosphate-activated APPROVED protein-coding ENSG00000115419 HGNC:4331 00700 138280 REVIEWED 1318119 GLRX5 glutaredoxin 5 This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010] 14 14 14 q32.13 76057010 76066743 + 96001323 96011055 + 95534986 95544718 + 6480464;7240710;8554872;8699517 12477932;15489334;16110529;17485548;18029348;19731322;20364084;20379614;20877624;21029046;21832049;21988832;23251661;24334290;24529757;9325327 51218 H0YJM6;Q86SX6 AB223038;ABBA01048602;AF113691;AI089763;AL133467;AMYH02029798;BC023528;BC047680;BC071690;BC105275;BI259789;BI834047;BX248075;CH471061;CS185633;DQ083331;NG_021217;NM_016417 AAF29586;AAH23528;AAH47680;AAZ30731;BAF02301;CAD62364;CAJ42814;EAW81606;EAW81607;NP_057501;Q86SX6 Hs.744943 1655929;1685726;1685728;1736402;1755047;1773152 D14S1246;D14S660E;RH1627;RH93740;RH98225;SHGC-141988 C14orf87;FLB4739;GRX5;MGC14129;PR01238;PRO1238 OTTHUMP00000246628;chromosome 14 open reading frame 87;glutaredoxin 5 homolog;glutaredoxin-related protein 5, mitochondrial;monothiol glutaredoxin-5 APPROVED protein-coding HGNC:20134 12659 205950;609588 REVIEWED 1606714 GLT1D1 glycosyltransferase 1 domain containing 1 ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN biosynthetic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene 12 12 12 q24.33 128951908 129083008 + 129337985 129469513 + 128853500 128984968 + 6480464;8554872 12477932;14702039;18029348;20379614;22044751;2283726;2341393;2649653;8218172 144423 B4DHZ5;F5H088;H0Y5M0;Q96MS3 ABBA01019771;ABBA01019772;ABBA01019773;ABBA01019774;ABBA01019775;ABBA01019776;AC069262;AK056540;AK295333;AK295454;AMYH02027530;AMYH02027531;AMYH02027532;AMYH02027533;AMYH02027534;BC033953;BC043528;CH471054;NM_144669;XM_005253553;XM_005253554;XM_006719245;XM_006719246;XM_006719247;XM_006719248;XM_006719249 AAH43528;BAB71209;BAG58307;BAG58388;EAW98497;EAW98498;NP_653270;Q96MS3;XP_005253610;XP_005253611;XP_006719308;XP_006719309;XP_006719310;XP_006719311;XP_006719312 Hs.655668 1336935;1655298;1678253;1746217;1746731;1755821;2133211;2133213;2152500 A006D44;A006O16;D12S1659;G20733;G64701;G64748;RH45520;RH80888;SHGC-142665 FLJ31978 OTTHUMP00000238789;OTTHUMP00000238790;glycosyltransferase 1 domain-containing protein 1 protein-coding ENSG00000151948 HGNC:26483 08115 PROVISIONAL 1346424 GLRXP1 glutaredoxin (thioltransferase) pseudogene 1 20 20 20 q11.2 32938205 32938901 - 36230955 36231651 - 37602553 37603249 - 11696981;11702225 170522 ABBA01006623;AF227512;AL109614;AMYH02037049;NG_001013 GLRXP;bA425M5.1 APPROVED pseudo HGNC:16544 INFERRED 1350682 GLT6D1 glycosyltransferase 6 domain containing 1 The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011] 9 9 9 q34.3 109033335 109049219 - 138515502 138531386 - 135623656 135639540 - 1580863;6480464;8554872 17298992;19218399;19897590;20800603;2283726;2341393;2649653;8218172 360203 Q7Z4J2 ABBA01030041;AL354761;AMYH02021875;AMYH02021876;AMYH02021877;AY336054;CH471090;NM_182974 AAI48648;AAQ01588;EAW88171;NP_892019;Q7Z4J2 Hs.522491 1765673;2107159 GLTDC1__6811;SHGC-149112 GLTDC1;GT6M7 OTTHUMP00000022547;galactosyltransferase family 6 domain containing 1;galactosyltransferase family 6 domain-containing 1;glycosyltransferase 6 domain-containing protein 1 APPROVED protein-coding ENSG00000204007 HGNC:23671 13584 613699 PROVISIONAL 2290027 GLTPP1 glycolipid transfer protein pseudogene 1 INTERACTS WITH valproic acid 11 11 11 p15.1 18342753 18345086 + 18210451 18212785 + 18188904 18191238 + 6480464 18261224 645312 ABBA01061060;AC090099;AMYH02024387;AY039109;NG_007407 1678187 RH27234 pseudo HGNC:33991 INFERRED 1353062 GLT8D2 glycosyltransferase 8 domain containing 2 ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; hydroquinone O-beta-D-glucopyranoside 12 12 12 q 104046524 104107666 - 104382762 104457961 - 103988984 104064183 - 737633;1580863;6480464;8554872 12477932 12975309;14702039;15489334;17207965;20379614;21963094;2283726;22841784;23291589;2341393;24173238;2649653;8218172 83468 F8VU19;F8VZP2;Q9H1C3 ABBA01053209;AC078819;AJ271711;AK027310;AK056056;AMYH02027090;AMYH02027091;AX556887;AY358763;BC022343;CH471054;NM_031302;XM_005269171 AAH22343;AAQ89123;ADQ32211;BAB55033;BAB71085;CAC19667;CAD58278;EAW97730;EAW97731;NP_112592;Q9H1C3;XP_005269228 Hs.631650 1335340;1690670;1732586 D12S800;D12S806;RH76675 FLJ31494 OTTHUMP00000242879;OTTHUMP00000242880;OTTHUMP00000242881;glycosyltransferase 8 domain-containing protein 2;gycosyltransferase protein-coding ENSG00000120820 HGNC:24890 14260 PROVISIONAL 1604453 GLTPD2 glycolipid transfer protein domain containing 2 ENCODES a protein that exhibits glycolipid binding (inferred); glycolipid transporter activity (inferred); INVOLVED IN glycolipid transport (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cyclosporin A 17 17 17 p13.2 4707456 4708887 + 4691723 4693887 + 4788428 4790592 + 6480464 12477932;21988832;22916037 388323 A6NH11 ABBA01054775;AC109333;AC233723;AMYH02032833;BC029290;BC150536;CD365791;CH471108;NM_001014985;XM_005256626 A6NH11;AAI50537;EAW90408;NP_001014985;XP_005256683 Hs.131035 glycolipid transfer protein domain-containing protein 2 protein-coding ENSG00000182327 HGNC:33756 18609 VALIDATED 1604019 GLS2 glutaminase 2 (liver, mitochondrial) The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] 12 12 12 q13.3 56518105 56535542 - 56864728 56882198 - 56470944 56488414 - 6480464;6907045 10620514;11130979;11163757;12163477;12444921;12477932;14675161;15123239;15496140;16344560;16637659;17669570;18088378;19062176;20351271;20378837;20877624;21886157;21988832;22049910;22286219;22679499;22888977;22916037;23574722;23954443;24096582;24121663;24144296;24330717;8619474;9110174 27165 A8K0A6;B7Z8Q9;C9J3Q2;F8WBC9;F8WBL8;F8WEU7;G5E9X4;Q9UI32 ABBA01008424;ABBA01008425;AC097104;AF038170;AF110329;AF110330;AF110331;AF223944;AF279698;AF348119;AI241400;AK000467;AK289471;AK294822;AK303772;AMYH02026570;BC025661;BC036929;BC048344;BC059370;BC119767;BC119768;BI916699;CH471054;DA060302;DA180204;HM775422;HM775423;HM775424;NM_001280796;NM_001280797;NM_001280798;NM_013267;XM_005268797;XM_005268798 AAF21933;AAF21934;AAF33826;AAG17701;AAI19768;AAI19769;AAI66649;AAO13298;ADR77821;ADR77822;ADR77823;BAF82160;BAG57935;BAH14045;EAW96942;EAW96943;EAW96944;EAW96945;NP_001267725;NP_001267726;NP_001267727;NP_037399;Q9UI32;XP_005268854;XP_005268855 Hs.212606 1676976;1687690;2109353;2114816;5020414;5109281 A006P42;D1S1425;GLS2_9536;L17688;RH93044;RH93492 GA;GLS;LGA;MGC71567;hLGA L-glutaminase;L-glutamine amidohydrolase;OTTHUMP00000179139;breast cell glutaminase;glutaminase GA;glutaminase I;glutaminase liver isoform, mitochondrial;phosphate-activated glutaminase;phosphate-dependent glutaminase;truncated glutaminase 2 APPROVED protein-coding ENSG00000135423 HGNC:29570 05901 606365 REVIEWED 1348884 GLT8D1 glycosyltransferase 8 domain containing 1 This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013] 3 3 3 p21.1 52707215 52718759 - 52728500 52740099 - 52694484 52706083 - 6480464 12477932;12975309;14702039;18029348;19946888;21139048;21926972;21963094;22461910;22763110;2283726;2341393;23453885;23974872;24373612;2649653;7829101;8218172 55830 C9J6X9;C9J880;C9JA13;C9JNB0;C9JPK4;C9JY96;H7C4V6;Q68CQ7;Q7Z4D0 ABBA01024499;ABBA01024500;AC104446;AF157318;AF175227;AF176777;AJ271710;AK027517;AK075031;AK311674;AMYH02006813;AX405629;AX876481;AY358579;BC119670;BC119671;BF725274;BG700867;BG831844;BI495741;BI559798;CH471055;CR749821;NM_001010983;NM_001278280;NM_001278281;NM_018446;NM_152932;XM_006713260 AAF67484;AAI19671;AAI19672;AAQ13652;AAQ13655;AAQ88942;BAB55170;BAC11363;CAC19666;CAD34736;CAE89295;CAH18681;EAW65253;EAW65254;EAW65255;EAW65256;NP_001010983;NP_001265209;NP_001265210;NP_060916;NP_690909;Q68CQ7;XP_006713323 Hs.297304 1645021;1647842;1682271;1735258;2170809;2183955;5014484 D3S2852E;D3S2917E;RH12841;RH25508;RH47299;SGC30921;SHGC-34663 AD-017;DKFZp781O20198;FLJ14611;MSTP139 OTTHUMP00000213401;OTTHUMP00000213439;OTTHUMP00000213440;glycosyltransferase 8 domain-containing protein 1;glycosyltransferase AD-017 APPROVED protein-coding ENSG00000016864 HGNC:24870 12423 REVIEWED 1602720 GLTP glycolipid transfer protein The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq, Jul 2008] 12 12 12 q24.11 109913104 109942641 - 110288748 110318293 - 109850943 109880488 - 6480464 10653652;10671554;12477932;15287756;15329726;15489334;15504043;15901739;16169991;17105344;17207965;17320476;17980653;18261224;18657186;19270338;19322201;19665998;20694148;20959104;20974858;21139048;21625605;21890473;2190982;22053931;23000965;23519669;23555818;8889548 51228 F5GZ49;F5H0U5;H0YFS9;Q9NZD2 ABBA01005081;AC007834;AF209704;AK313457;AMYH02027174;AY372530;AY372531;AY372532;BC009932;BQ227117;CA310913;CH471054;JN039379;JN052207;NM_016433 AAF33210;AAH09932;AAR85984;AAR85985;AAR87373;ADQ31615;AEM05862;AEN02916;BAG36244;EAW97880;EAW97881;EAW97882;NP_057517;Q9NZD2 Hs.381256 1664940;1675997;1678187;2109355 GLTP__6812;RH27234;RH68195;RH78111 OTTHUMP00000240666;OTTHUMP00000240667;OTTHUMP00000240668;truncated glycolipid transfer protein APPROVED protein-coding ENSG00000139433 HGNC:24867 16409 608949 REVIEWED 1313851 GLTSCR1L GLTSCR1-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsane; arsenic atom; benzo[a]pyrene 6 6 6 p21.1 44341061 44388560 + 42749790 42836296 + 42782052 42868558 + 6480464;8554872 12421765;12477932;14574404;14702039;17043677;19322201;20936779;9039502 23506 Q6AI39 ABBA01050709;ABBA01050710;ABBA01050711;ABBA01050712;ABBA01050713;ABBA01050714;ABBA01050715;AK091434;AK093526;AK128771;AK294706;AL035587;AL353716;AL833540;AMYH02013630;AMYH02013631;AMYH02013632;BC015724;BC033963;BC047630;BC130302;CH471081;CR627378;D87077;NM_015349;XM_005248972;XM_005248973 AAI30303;BAA13246;BAH11853;CAH10475;EAX04102;NP_056164;Q6AI39;XP_005249029;XP_005249030 Hs.658033 1662650;1694252;1847214;5015861;5024039;5037552;7185938 AL035174;D10S16;D16S325;D8S2279;RH25442;RH46620 DKFZp686P0250;KIAA0240 GLTSCR1-like protein;OTTHUMP00000016407;glioma tumor suppressor candidate region gene 1 protein-like;hypothetical protein LOC23506;uncharacterized protein KIAA0240 APPROVED protein-coding ENSG00000112624 HGNC:21111 17180 VALIDATED 1346498 GLUD1P4 glutamate dehydrogenase 1 pseudogene 4 18 18 18 q21.32 54163813 54165901 + 57445751 57447839 + 59778519 59780607 + 3368458;8486350 2750 ABBA01056171;AC098847;AMYH02034839;NG_005046;X66314 GLUDP4 APPROVED pseudo HGNC:4339 INFERRED 3322040 GLUD1P2 glutamate dehydrogenase 1 pseudogene 2 10 q11.2 48962451 48968666 + 2364112;8244384;8486350 100381203 AL731733;NG_016765;X66313;X66315;X66319 GLUDP2 pseudo HGNC:4337 INFERRED 1343185 GLUD1P6 glutamate dehydrogenase 1 pseudogene 6 10 q11.22 46772794 46778894 + 414209 ABBA01156967;AL603982;AMYH02022930;NG_032186 GLUDP6;bK2173J9.1 APPROVED pseudo HGNC:23610 INFERRED 1353107 GLTSCR2 glioma tumor suppressor candidate region gene 2 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN intracellular membrane-bounded organelle; nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 19 19 19 q13.3 45054495 45066024 + 48248793 48260323 + 47745536 47757066 + 1580863;6480464 10196275;10708517;11790298;12429849;12477932;14702039;15231747;15355975;15489334;15635413;16169070;16971513;17657248;17890897;18029348;18729076;19596235;19615732;20042497;20185249;21139048;21145461;21167305;21741933;21804542;21903422;21906983;21988832;22292050;22321011;22522597;22586326;22850112;22939629;23000965;23532381;23920125;23942755;24045667;24054033;24556985;24735870;24778252;24816145;24923447;8125298 29997 M0QX73;M0QYZ9;M0QZ34;M0QZU5;Q9NZM5 ABBA01041055;ABBA01041056;AC008745;AF161389;AF182076;AF296124;AI540063;AK024486;AK225915;AK297877;AK301117;AK303918;AK309788;AL122063;AL359335;AL359336;AMYH02036269;AMYH02036270;AY535000;BC004229;BC006311;BC007248;BC010095;BC013203;BC013235;BC013307;BC014009;BC039869;CH471126;CX866974;NM_015710 AAF28949;AAF62873;AAG30413;AAH04229;AAH06311;AAH07248;AAH10095;AAH14009;AAS46028;ABM83650;ABM86899;BAB15776;BAG60201;BAG62713;BAG64846;CAB59242;CAB94786;CAB94787;EAW57508;EAW57509;EAW57510;NP_056525;Q9NZM5 Hs.421907 1682708;2159994;5015961;5022322;5024756 D11S2560;D15S1477;RH65606;RH80030;RH91488 PICT-1;PICT1;p60 glioma tumor suppressor candidate region gene 2 protein;protein interacting with carboxyl terminus 1 protein-coding ENSG00000105373 HGNC:4333 16142 605691 VALIDATED 1314970 GLTSCR1 glioma tumor suppressor candidate region gene 1 INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 19 19 19 q13.3 44917158 45012242 + 48111453 48206534 + 47608196 47703277 + 6480464 10708517;12117772;12477932;15834925;17474147;20150366;20379614;20936779;22174851;22505724 29998 M0QYC3;Q9NZM4 AA961479;AA994408;ABBA01041049;ABBA01041050;ABBA01041051;ABBA01041052;ABBA01041053;ABBA01041054;AC008985;AC010331;AC010519;AC104531;AF182077;AMYH02036265;AMYH02036266;BC032065;BX362862;CH471126;KC877744;NM_015711;XM_005258833;XM_006723180 AAF62874;AAI56273;EAW57503;EAW57504;NP_056526;Q9NZM4;XP_005258890;XP_006723243 Hs.97244 1666005;1723521;2107161;2112990;2146240;5094914 D19S1057;D19S1160;GLTSCR1;GLTSCR1__6813;RH118578;RH48458 glioma tumor suppressor candidate region gene 1 protein protein-coding ENSG00000063169 HGNC:4332 09296 605690 PROVISIONAL 1345817 GLUD1P7 glutamate dehydrogenase 1 pseudogene 7 10 10 q11.22 46764668 46768346 + 46781279 46784957 - 15146197;16344560;2364112;8244384;8486350 414212 ABBA01013319;AL603982;AL731733;AMYH02022928;AMYH02022929;BX281697;CN414942;DB144814;NR_048574;NR_111968;X66313;X66315;X66319 Hs.661155;Hs.741415 5113244;5120245;5123996 GDB:217914;RH15704;RH40147 GLUD1P2;GLUDP2;GLUDP7;bA342C24.3 APPROVED pseudo ENSG00000227194 HGNC:23636 VALIDATED 733213 GLUD1 glutamate dehydrogenase 1 This gene encodes glutamate dehydrogenase protein; a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid induced insulin secretion and activating mutations in this gene are a common cause of congenital hyperinsulinism. This enzyme is allosterically activated by ADP and inhibited by GTP and ATP. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Multiple pseudogenes of this gene are present in humans.[provided by RefSeq, Sep 2009] 10 10 10 q23.3 82812987 82857799 - 88809959 88854776 - 87050202 87095019 - 1300048;1580863;1302513;1601353;6480464;6484554;6484590;6484656;6484655;6484555;6484556;6484593;6484657;6484588;6484589;6907045;7240710;6484661;8554872;8699517 10431747;10636977;10975907;11240587;15016427;16298240;16341942;18381650;20670938;2903433;7808037;9145307;9571255 10338089;11032875;11214910;11254391;11297618;11502802;11840195;11872671;11903050;11950837;12022886;12054821;12193607;12324473;12477932;12653548;12742085;1286669;14702039;14760703;15044002;15164054;15231747;15273247;15378063;15489334;15578726;15609325;15750346;15852347;16151898;16385451;16492972;16959573;18321734;18457437;18688271;18781797;19046183;19046187;19156168;19322201;19448744;19500843;19690084;19738201;19826036;19890003;20164212;20186120;20197649;20201926;20301549;20381070;20659789;20736409;20877624;20931523;21081666;21130127;21139048;21145461;21397652;21621574;21813650;21890473;21901531;21906983;21963094;21988832;22106762;22118674;22360420;22658952;22924626;23455922;23507704;23575388;23636801;24295216;24654937;24778252;24816145;2757358;3368458;3377777;3399399;3426581;3585334;3997814;429360;6121377;8125298;8244384;8314555;8486350 2746 E9KL48;P00367 AB209406;ABBA01033690;ABBA01033691;ABBA01033692;ABBA01033693;AF086070;AK094782;AK122685;AK222818;AK294685;AK297441;AK297456;AK303458;AK311722;AL136982;AMYH02023490;AMYH02023491;BC040132;BC112946;CH471142;DB460681;GU727646;HH961834;J03248;M17697;M20867;M37154;NG_013010;NM_005271;S60498;X07674;X07769;X66300;X66312 AAA52523;AAA52524;AAA52525;AAA52526;AAH40132;AAI12947;ADU87647;BAD92643;BAD96538;BAG52930;BAG53667;BAG57846;BAG59867;BAG59880;BAG64501;CAA30521;CAA30598;CAA46994;CAA46996;CBX51390;EAW80300;EAW80301;EAW80302;EAW80303;EAW80304;NP_005262;P00367 Hs.500409 1664887;1666140;1669660;1670324;1702082;1743163;1776839;1795928;1853162;2141755;2160913;5095267;5113140;5120057;5124473 D10S2137;DXS7028E;GDB:193864;GDB:277890;GLUD1-1;GLUD1_1725;L47793;RH46040;RH65005;RH65934;RH79929;RH80866;SHGC-37613;SHGC-56862;STS-N57779 GDH;GDH 1;GDH1;GLUD;MGC132003 OTTHUMP00000020018;glutamate dehydrogenase (NAD(P)+);glutamate dehydrogenase 1, mitochondrial APPROVED protein-coding ENSG00000148672 HGNC:4335 11748 138130;606762 REVIEWED 1350734 GLUD1P8 glutamate dehydrogenase 1 pseudogene 8 10 10 q11.22 47253595 47259683 + 47563604 47569695 + 414213 AC245513;AL391137;AL603982;BX547991;NG_032188 GLUD1P6;GLUDP6;GLUDP8;bA144G6.5;bK2173J9.1 APPROVED pseudo HGNC:23637 INFERRED 1348207 GLUD1P3 glutamate dehydrogenase 1 pseudogene 3 10 10 10 q22.2 68774257 68780395 + 75491299 75495367 + 73731541 73735609 + 15899389;8244384;8486350 2749 ABBA01020312;ABBA01020313;AC022400;AMYH02023338;AY661565;NR_048575;X66316;X66317;X66318 Hs.676111;Hs.737939 C10orf102;Em:AC022400.11;GLUDP3;RP11-574K11.12 APPROVED pseudo HGNC:4338 VALIDATED 1352274 GLUD2 glutamate dehydrogenase 2 The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate. This gene is intronless.[provided by RefSeq, Jan 2010] X X X q24-q25 120563127 120565461 + 120181462 120183796 + 121047608 121049942 + 1580863;6480464;6907045;8554872 11032875;11950837;11999891;12054821;12477932;12742085;15044002;15378063;15489334;15578726;15750346;15772651;15952740;16169070;17924438;18029348;18688271;19156168;19393024;19428807;19448744;19826450;20194501;21420458;21621574;21890473;21906983;21963094;22304920;22360420;22658952;22709669;2365355;23874603;24457600;8207021;8288265;8486350;9109504;9674910 2747 P49448;Q9BSD0 ABBA01036087;AC006144;AK313356;AMYH02040372;BC005111;BC050732;NG_016456;NM_012084;U08997;X66310 AAA20969;AAD05030;AAH05111;AAH50732;BAG36157;CAA46995;NP_036216;P49448 Hs.368538 1664887;1666140;1669660;1694858;1702082;1743163;1795928;2115551;5095267;5113140;5120057;5124473 D10S2137;DXS7028E;G44300;GDB:193864;GDB:277890;GLUD1-1;GLUD1_1725;L47793;L77323;RH65005;RH79929;RH80866 GDH 2;GDH2;GLUDP1 OTTHUMP00000023966;glutamate dehydrogenase 2, mitochondrial;glutamate dehydrogenase pseudogene 1 APPROVED protein-coding ENSG00000182890 HGNC:4336 02143 300144 REVIEWED 1350062 GLULP2 glutamate-ammonia ligase (glutamine synthetase) pseudogene 2 11 11 11 p15.4 10099561 10102890 - 9978132 9981461 - 9956585 9959914 - 8921392 2754 ABBA01061162;AC011092;AMYH02024326;NG_009859 GLULL2 APPROVED pseudo HGNC:4343 INFERRED 1353618 GLUD1P5 glutamate dehydrogenase 1 pseudogene 5 10 10 10 p11.2 31671634 31672222 + 31906539 31907129 + 31617611 31618201 + 10338089;10636977;11214910;11254391;11297618;11903050;12054821;12653548;1286669;15164054;15489334;3368458;3377777;3399399;3426581;3585334;429360;8314555;8401522;8486350;9571255 2751 ABBA01033398;AL161935;AMYH02022575;NG_001129;X67491;X69219 CAA47830 1742787;1782206 GDB:209150;SHGC-172071 GLUDP5 APPROVED pseudo HGNC:4340 INFERRED 1345808 GLULP4 glutamate-ammonia ligase (glutamine synthetase) pseudogene 4 9 9 9 p13.3 34848728 34849843 + 34917173 34918288 + 34917176 34918291 + 8921392 392305 ABBA01065003;AL355377;AMYH02019454;NG_005208 1687231 RH70547 GLULP APPROVED pseudo HGNC:4345 INFERRED 1349044 GLULP1 glutamate-ammonia ligase (glutamine synthetase) pseudogene 1 5 5 5 q33 147309761 147311892 + 151228368 151230472 + 151848807 151850911 + 8921392 2753 ABBA01026259;AC091982;AMYH02012476;NG_003030;NG_011764 GLULL1 glutamate-ammonia ligase (glutamine synthase)-like 1 APPROVED pseudo HGNC:4342 INFERRED 1343638 GLULP3 glutamate-ammonia ligase (glutamine synthetase) pseudogene 3 11 11 11 q24.1 119643450 119644570 - 122484151 122485271 - 122613443 122614563 - 8921392 401708 ABBA01031287;AMYH02025703;AP002469;NG_007180 GLULL3 APPROVED pseudo HGNC:4344 INFERRED 1603595 GLYATL1 glycine-N-acyltransferase-like 1 ENCODES a protein that exhibits glutamine N-acyltransferase activity (inferred); glycine N-acyltransferase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; cyclosporin A 11 11 11 q12.1 56069816 56083617 + 58695102 58724543 + 58927629 58957070 + 6480464;8554872 12477932;14702039;15489334;17207965;22475485 92292 A9ZM15;B4DU33;E9PJV1;E9PK55;E9PNJ8;E9PP95;E9PP99;E9PR27;Q969I3 AB207212;ABBA01021494;AF087878;AK055818;AK091965;AK130017;AK300479;AMYH02024861;AP001636;AP001652;AW194883;AX405647;BC008353;BC013929;CH471076;DC339353;DQ084381;H62546;KF459747;KF459748;KF459749;KF459750;KF459751;KF459752;KF459753;KF459754;KF459756;KF495705;NM_001220494;NM_001220496;NM_080661 AAH08353;AAP97178;AAZ31239;ADQ32633;BAB71023;BAC03779;BAF96748;BAG62195;CAD34754;EAW73828;EAW73829;EAW73830;NP_001207423;NP_001207425;NP_542392;Q969I3 Hs.38085;Hs.616909 2155106;2170255;2174822 G17610;SHGC-34857;WI-11546 FLJ26507;FLJ34646;GATF-C;GNAT;MGC15397;MGC15937 OTTHUMP00000235506;OTTHUMP00000235510;acyl-CoA:glycine N-acyltransferase-like protein 1;glutamine N-acyltransferase;glycine N-acyltransferase-like protein 1 protein-coding ENSG00000166840 HGNC:30519 14447 614761 VALIDATED 2859014 GLULP5 glutamate-ammonia ligase (glutamine synthetase) pseudogene 5 12 12 12 114169886 114170874 + 114542739 114543727 + 114104934 114105922 + 100421694 ABBA01019969;AC010183;AMYH02027249;NG_021735 pseudo HGNC:37989 INFERRED 2837562 GLUD1P9 glutamate dehydrogenase 1 pseudogene 9 X X X q23 110952851 110954174 - 110473235 110474558 - 111230007 111231330 - 100131281 ABBA01043324;AL031117;AMYH02040235;NG_016578 1703784 SHGC-79105 pseudo HGNC:37696 INFERRED 730955 GLUL glutamate-ammonia ligase The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia. Glutamine is a main source of energy and is involved in cell proliferation, inhibition of apoptosis, and cell signaling. This gene is expressed during early fetal stages, and plays an important role in controlling body pH by removing ammonia from circulation. Mutations in this gene are associated with congenital glutamine deficiency. Several alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 1 q31 155461927 155472429 - 182350839 182361341 - 182381704 182392206 - 1300048;1580863;2301427;2301429;2301554;2301479;2301553;2301547;2301548;2301556;2301555;6480464;6907045;7240710;8554872;8699517 12160938;1361232;14723991;15481771;18562176;18669513;28323;4403443;4405000 10520940;10681395;12477932;14702039;14760703;15231748;15489334;15604093;15642443;16095760;16189514;16196087;16267323;16344560;16537434;16609938;16710414;1681907;17197094;17627080;18005987;18029348;18062818;18192886;18555765;18624398;18662667;19056867;19125103;19156168;19183851;19204801;19231003;19447967;19500843;19748344;20233882;20471030;20525558;20536387;20936779;21139048;21175585;21597934;21682567;21890473;21906983;21963094;21987572;21988832;22053931;22505724;22542401;22777743;22797925;22863883;22930410;23000965;23362937;23410662;23807780;23982368;24816145;25027693;2856920;2888076;7909780;7923146;8889548;8921392;8975719;9107685;9260745;9263280 2752 A8YXX4;P15104 ABBA01027765;AK092874;AK122784;AK301600;AL139344;AL161952;AMYH02002270;AY486122;AY486123;AY513283;AY947343;BC010037;BC011700;BC011852;BC018992;BC031964;BC051726;BC127883;BG771732;BM662182;BX537384;CD688156;CH471067;DA151535;DA456371;JA462412;NG_013347;NM_001033044;NM_001033056;NM_002065;S70290;X59834;XM_006711278;Y00387 AAB30693;AAH10037;AAH11700;AAH11852;AAH18992;AAH31964;AAH51726;AAI27884;AAS57904;AAS57905;AAT08036;AAY57874;ABM84204;ABM87608;ACE87067;ACE87749;BAG52617;BAG53728;BAG63088;CAA42495;CAA68457;CAB82304;CAD97626;CCD35254;EAW91116;EAW91117;EAW91118;EAW91119;EAW91120;EAW91121;EAW91122;NP_001028216;NP_001028228;NP_002056;P15104;XP_006711341 Hs.518525 1667191;1673906;1686262;1687231;1736046;1736656;2137413;2156264;5022578;7185260;7187863 Cda0jg12;D1S1423;D1S2009E;D1S2075E;D1S2414;D1S290E;RH70547;SGC30288;SHGC-75989 GLNS;GS;PIG43;PIG59 OTTHUMP00000035524;OTTHUMP00000035525;cell proliferation-inducing protein 59;glutamate decarboxylase;glutamate--ammonia ligase;glutamate-ammonia ligase (glutamine synthase);glutamine synthase;glutamine synthetase;proliferation-inducing protein 43 APPROVED protein-coding ENSG00000135821 HGNC:4341 00701 138290;610015 REVIEWED 1606424 GLYATL2 glycine-N-acyltransferase-like 2 ENCODES a protein that exhibits glycine N-acyltransferase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); mitochondrion (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); 4-amino-2,6-dinitrotoluene (ortholog) 11 11 11 q12.1 55960624 55971093 - 58601538 58611997 - 58834065 58844524 - 6480464;8554872 12477932;15489334;17207965;20305126;22408254;22475485 219970 Q8WU03 AB207211;ABBA01021494;AF426250;AMYH02024861;AP001652;AW264415;BC016789;BC021682;CH471076;NM_145016 AAH16789;AAH21682;AAO73139;ADQ31722;BAF63415;EAW73826;EAW73827;NP_659453;Q8WU03 Hs.254271 BXMAS2-10;GATF-B;MGC24009 OTTHUMP00000235933;OTTHUMP00000235934;acyl-CoA:glycine N-acyltransferase-like protein 2;glycine N-acyltransferase-like protein 2;glycine acyltransferase family-B protein-coding ENSG00000156689 HGNC:24178 16568 614762 VALIDATED 1348263 GLYATL3 glycine-N-acyltransferase-like 3 ENCODES a protein that exhibits glycine N-acyltransferase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (+)-catechin 6 6 6 p12.3 51023868 51051973 + 49467671 49495777 + 49499958 49528064 + 8554872 14702039;16344560;19156129;20171287;20379614 389396 F5GXQ5;Q5SZD4 ABBA01050590;ABBA01050591;AL590244;AMYH02013710;AW591696;CH471081;DB246049;NM_001010904 EAX04334;NP_001010904;Q5SZD4 Hs.585172 C6orf140;FLJ44407;bA28H17.2 OTTHUMP00000016587;OTTHUMP00000238516;glycine N-acyltransferase-like protein 3 APPROVED protein-coding HGNC:21349 614763 VALIDATED 4144623 GLYATL1P4 glycine-N-acyltransferase-like 1 pseudogene 4 11 11 11 q12.1 56167392 56177537 + 58808533 58819488 + 59041060 59052015 + 643637 ABBA01021495;AMYH02024862;AP001258;AP001636;CH471076;NG_028295 EAW73832 1671510;1713241;1713243;2169715 RH120610;RH120611;RH44591;SHGC-34923 hCG1729961-like pseudo HGNC:37864 INFERRED 3362199 GLYATL1P1 glycine-N-acyltransferase-like 1 pseudogene 1 11 11 11 q12.1 56105405 56120262 + 58746304 58761161 + 58978831 58993688 + 100129032 ABBA01021494;ABBA01021495;AP001636;NG_022951 pseudo HGNC:37866 INFERRED 4144680 GLYATL1P3 glycine-N-acyltransferase-like 1 pseudogene 3 11 11 11 q12.1 56212597 56233508 + 58852432 58863310 + 59084959 59095837 + 100287520 ABBA01021495;AMYH02024862;AP001258;NG_028990 pseudo HGNC:37865 INFERRED 1316190 GLYAT glycine-N-acyltransferase The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55835316 55858530 - 58476230 58499447 - 58708757 58731974 - 6480464;8554872 10630424;12477932;13174534;15342556;15489334;16169070;16712791;19252341;20877624;20925583;22475485;23108985;23237781;7802672;7833837;8660675;9202629;931988 10249 K7ES21;Q6IB77 AB013093;AB665285;ABBA01021492;AF023466;AI253073;AI793012;AI793201;AMYH02024860;AP000445;AW024233;BC009785;BG401676;BG617408;BP277146;CB161978;CH471076;CR456927;DR004166;NM_005838;NM_201648 AAB81453;AAH09785;ABM83638;ABM86890;BAL43174;CAG33208;EAW73822;EAW73823;EAW73824;NP_005829;NP_964011;Q6IB77 Hs.145384 1298333;1730449;1768311;1776785 D11S1912;D11S1985;D11S956;STS-W87532 AAc;CAT;GAT;HRP-1(CLP) ACGNAT;OTTHUMP00000235930;OTTHUMP00000235931;OTTHUMP00000235932;acyl-CoA:glycine N-acyltransferase;aralkyl acyl-CoA N-acyltransferase;aralkyl acyl-CoA:amino acid N-acyltransferase;aralkyl-CoA N-acyltransferase;benzoyl-coenzyme A:glycine N-acyltransferase;glycine N-acyltransferase;glycine N-benzoyltransferase APPROVED protein-coding ENSG00000149124 HGNC:13734 07603 607424 VALIDATED 1353928 GLYB glycine B complementing 2757 HGNC:4363 138480 1602601 GLYCAM1 glycosylation dependent cell adhesion molecule 1 (pseudogene) INVOLVED IN regulation of immune response (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH eugenol; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 q13.2 54653844 54656119 - 55001971 55004246 - 54608187 54610462 - 6480464 12057858;12588680 644076 Q8IVK1 ABBA01008377;AC079310;AJ489589;AJ489590;AJ489591;AJ489592;AJ489593;AMYH02026537;KF459782;NR_003039 CAD34030;CAD34031;CAD34032;CAD34033;CAD34034;Q8IVK1 Hs.483519 1711176;1723531 RH118583;SHGC-85332 glycosylation dependent cell adhesion molecule 1 pseudo ENSG00000257780 HGNC:18023 VALIDATED 3160486 GLYATL1P2 glycine-N-acyltransferase-like 1 pseudogene 2 11 11 11 q12.1 56011494 56020008 + 58652420 58660933 + 58884947 58893460 + 100129933 ABBA01021494;AP001652;NG_022993 1762955 SHGC-146705 pseudo HGNC:37863 INFERRED 1345588 GLYD glycerate-2-dehydrogenase 2758 HGNC:4364 6481312 GLYCTK-AS1 GLYCTK antisense RNA 1 p21.1 8889548 100874110 AC092045;AI174658;AW054843;BM672046;BM720126;NR_046719 Hs.608690;Hs.667391;Hs.681037 APPROVED ncrna HGNC:41043 VALIDATED 1354017 GLYS1 glycosuria 1, renal ASSOCIATED WITH Glycosuria, Renal (inferred) 7240710 6524599 2759 HGNC:4365 233100 3028790 GM2AP2 GM2 ganglioside activator pseudogene 2 1 1 1 q24.3 144470733 144471276 + 171361387 171361930 + 171392248 171392791 + 100287900 ABBA01027931;AL049762;AMYH02002136;NG_022818 1858530 RH48609 pseudo HGNC:38002 INFERRED 3379550 GLULP6 glutamate-ammonia ligase (glutamine synthetase) pseudogene 6 2 2 2 q32.3 188581032 188582001 - 194994021 194994990 - 194129297 194130266 - 343981 ABBA01062426;AC068129;AC068135;AC093389;AMYH02005483;NG_021543 1758691 SHGC-149180 pseudo HGNC:37990 INFERRED 1604750 GLYCTK glycerate kinase This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] 3 3 3 p21.1 52301159 52308595 + 52321836 52329272 + 52287820 52295256 + 6480464;6907045;8699517;7240710;8554872 12477932;16189514;16344560;16753811;18029348;19060904;20800603;20949620;21926972;21988832;23974872;2537226;2551543;8889549 132158 C9J3N5;C9JA32;Q8IVS8 AA100208;ABBA01024509;AC092045;AF448855;AF529373;AI380271;AK074215;AMYH02006800;AY134474;AY172690;AY295075;BC021896;BC036862;BC042151;BM555864;CH471055;DA586797;DQ352863;NG_023246;NM_001144951;NM_145262;NR_026699;NR_026700;NR_026701;NR_026702;XM_005264878;XM_006712978;XR_245095;XR_427251;XR_427252 AAH21896;AAH36862;AAH42151;AAM95456;AAO17719;AAP41923;AAP51132;AAQ09607;ABD22985;ABZ92208;BAB85018;EAW65205;EAW65206;EAW65207;EAW65208;EAW65209;EAW65210;EAW65211;EAW65212;NP_001138423;NP_660305;Q8IVS8;XP_005264935;XP_006713041 Hs.415312 1666439;2125631 RH78133;WI-17518 HBEBP2;HBEBP4;HBeAgBP4A CG9886-like;HBeAg binding protein 4;HBeAg-binding protein 2;HBeAg-binding protein 4;OTTHUMP00000212858;OTTHUMP00000212859 APPROVED protein-coding ENSG00000168237 HGNC:24247 13586 220120;610516 REVIEWED 5490500 GMCL1P2 germ cell-less, spermatogenesis associated 1 pseudogene 2 2 2 2 103291838 103292662 + 108983572 108984396 + 108367116 108367940 + 100420975 ABBA01000754;AC068941;AMYH02004505;NG_023717 APPROVED pseudo HGNC:42863 INFERRED 1353976 GM2A GM2 ganglioside activator This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 5 5 5 q33.1 146713960 146731303 + 150632613 150650083 + 151253052 151270394 + 1598993;1580863;6480464;7240710;8554872;8699517 10364519 10752311;10987359;11090283;11508694;115863;11672434;12477932;12576516;12909021;1427911;14728689;15485660;15489334;1554364;16341674;17215249;18029348;18976975;19056867;1915857;1915858;19322201;20301334;20379614;2059210;21036149;21139048;21331553;21784073;2209618;23483939;23568457;2753159;3935131;6724528;6848657;8244332;8288250;8503891;8900233;9204879;9217013;9568910 2760 E5RJD0;H0YBY3;P17900 ABBA01026263;AC008385;AF124717;AF173832;AK298867;AK312494;AMYH02012464;BC009273;BM834780;BX473154;CH471062;L01439;M76477;NG_009059;NM_000405;NM_001167607;X16087;X61094;X61095;X62078 AAA35907;AAA52767;AAD25741;AAF63788;AAH09273;ABM82840;ABM86024;BAG35396;BAG60987;CAA34215;CAA43407;CAA43408;CAA43993;CAA43994;EAW61680;EAW61681;NP_000396;NP_001161079;P17900 Hs.483873 1776325;1795930;2147228;2152362;2152422;5037552;5120063 D3S3426;D5S2404;D8S2279;GDB:194298;GM2A_1758;RH77939;WI-10510 GM2-AP;SAP-3 OTTHUMP00000160619;cerebroside sulfate activator protein;ganglioside GM2 activator;shingolipid activator protein 3;sphingolipid activator protein 3 APPROVED protein-coding ENSG00000196743 HGNC:4367 02034 272750;613109 REVIEWED 1606767 GLYR1 glyoxylate reductase 1 homolog (Arabidopsis) ENCODES a protein that exhibits methylated histone binding; INVOLVED IN pentose-phosphate shunt (inferred); FOUND IN cytoplasm; Golgi apparatus; nucleus; INTERACTS WITH atrazine; benzo[a]pyrene; diazinon 16 16 16 p13.3 5061974 5106076 - 4853204 4897383 - 4803203 4847382 - 6480464 12477932;15851553;16352664;19322201;19471022;21139048;21182205;21693764;21890473;21906983;21963094;21987572;21988832;22505724;22586326;22939629;23000965;23455924;24457600;24654937;24816145;25015289;25027693 84656 D3DUE6;D3DUE7;K7EK70;K7ELL0;K7EMM8;K7EPU6;K7EQB2;Q49A26 ABBA01026787;ABBA01026788;AC020663;AF217521;AF244907;AF326966;AK296842;AK307834;AMYH02031328;AMYH02031329;AY352585;BC003693;BC022809;BC032855;BC047223;BC048291;BC063039;BC064940;BC071698;BC073868;CB529066;CH471112;CK430984;CR933687;DB492328;KF456151;NM_032569;XM_005255637;XM_005255638;XM_005255639;XM_005255640;XR_243321 AAF67632;AAH03693;AAH32855;AAH47223;AAH64940;AAK15524;AAQ14242;AAQ57265;BAG59409;EAW85251;EAW85252;EAW85253;EAW85254;EAW85255;EAW85256;EAW85257;NP_115958;Q49A26;XP_005255694;XP_005255695;XP_005255696;XP_005255697 Hs.387255;Hs.731580 1648676;1655154;1680673;1682403;2191311;5127548 D20S544E;MARC_17251-17252:1024677488:1;RH44934;RH70097;SHGC-37555;SHGC-61126 BM045;HIBDL;N-PAC;NP60 3-hydroxyisobutyrate dehydrogenase-like protein;OTTHUMP00000159924;cytokine-like nuclear factor n-pac;nuclear protein 60 kDa;nuclear protein 60kDa;nuclear protein NP60;nuclear protein of 60 kDa;putative oxidoreductase GLYR1 APPROVED protein-coding ENSG00000140632 HGNC:24434 17625 610660 VALIDATED 1605348 GMCL1P1 germ cell-less, spermatogenesis associated 1 pseudogene 1 This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 173238486 173241408 - 177611511 177614433 - 178184510 178187432 - 6480464 12477932;15489334;16094384;16189514;16201836;18614560;21156761;25011449 64396 Q8NEA9;Q9HBV8 ABBA01009989;AC136632;AF198534;AK315701;AMYH02012860;BC024184;BC024185;BC033886;CH471165;DQ120624;NR_003281 AAG28529;ABB92410;ABM81793;ABM84949;ABM84951;BAG38063;EAW53846;Q8NEA9 Hs.591738 GCL;GMCL1L;GMCL2 APPROVED pseudo HGNC:19717 17044 PROVISIONAL 1605349 GMCL1 germ cell-less, spermatogenesis associated 1 This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 69907998 69957903 + 70056818 70106727 + 69829686 69879595 + 6480464;8554872 11591818;12477932;12493765;12927808;12954656;14702039;15489334;19322201;21145461;23029259;24250222;9878064 64395 Q53SE7;Q96IK5 ABBA01075514;ABBA01075515;AC019206;AK023119;AK023261;AK024042;AMYH02004029;AMYH02004030;BC007420;CH471053;NM_178439 AAH07420;AAY14865;ACE87054;ACE87736;BAB14416;BAB14494;BAB14796;EAW99842;NP_848526;Q96IK5 Hs.293971 1689019;1708090;1725281;1853141;2131401;2174796;2179830 D2S1355;D2S2904;RH118924;RH47521;RH94326;SHGC-32890;SHGC-81443 BTBD13;GCL;GCL1;SPATA29 OTTHUMP00000160045;germ cell-less homolog 1;germ cell-less protein-like 1;spermatogenesis associated 29 APPROVED protein-coding HGNC:23843 13587 PROVISIONAL 1343495 GMFA glia maturation factor, alpha 2763 HGNC:4372 4109593 GMFBP1 glia maturation factor, beta pseudogene 1 3 3 3 q12.2 98775165 98775591 - 100383894 100384320 - 100665050 100665476 - 100499251 ABBA01061788;AC069223;AMYH02007305;NG_023431 pseudo HGNC:38654 INFERRED 7248267 GMDS-AS1 GMDS antisense RNA 1 (head to head) 6 6 6 3474061 3642841 + 2245987 2413825 + 2245753 2413591 + 12477932;15146197;24057671 100508120 ABBA01048632;ABBA01048633;ABBA01048634;ABBA01048635;AL031768;AL158139;AL591120;AMYH02012975;AMYH02012976;AMYH02012977;BX342557;CA413374;CN395927;CR739457;CR933638;HG498892;HG498893;HG498894;HG498897;HG498900;NR_046229 Hs.188825 RP1-80B9.2 ncrna HGNC:48993 VALIDATED 1603227 GMEB1 glucocorticoid modulatory element binding protein 1 This gene encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that this gene's role is to modulate the transactivation of the glucocorticoid receptor when it is bound to glucocorticoid response elements. Two alternative spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Feb 2011] 1 1 1 p35.3 27390404 27437665 + 28995234 29042115 + 28668728 28715603 + 6480464 10386584;10523663;10692587;10734202;10894151;11743720;11812797;11927605;12477932;12702733;14702039;15231748;15489334;15555560;16344560;16497673;16964243;18029348;18157088;18222470;18455874;19471022;21139048;21252943;21693764;24250222;24816145 10691 B1AT46;B1AT47;B2RCN8;Q9Y692 ABBA01035054;ABBA01035055;ABBA01035056;ABBA01035057;ABBA01035058;AF099013;AF173868;AF203694;AK000892;AK023126;AK315195;AK315436;AL645729;AMYH02000633;AMYH02000634;AMYH02000635;BC001473;CH471059;DA647317;DA919003;NG_028983;NM_006582;NM_024482 AAD39355;AAD51352;AAG01189;AAH01473;ABZ92483;BAA91410;BAG37635;BAG37824;EAX07676;EAX07677;EAX07678;EAX07679;NP_006573;NP_077808;Q9Y692 Hs.632373 1664851;1739211;2120456;2217368 D1S2292;D1S3268;GMEB1_3774;SHGC-74511 GMEB-1;P96PIF;PIF96 DNA-binding protein p96PIF;OTTHUMP00000003779;OTTHUMP00000003780;OTTHUMP00000003781;OTTHUMP00000035905;PIF p96;glucocorticoid modulatory element-binding protein 1;parvovirus initiation factor p96 APPROVED protein-coding HGNC:4370 16059 604409 REVIEWED 1342990 GM2AP1 GM2 ganglioside activator pseudogene 1 3 3 3 q24 143823826 143827834 + 145402276 145406285 + 145684489 145688498 + 1427911;16216074;16478472 2761 AB051291;ABBA01058991;AC069435;AMYH02007852;L01440;NG_001130 1776325;2127771;5017933 D3S3426;Gm2a;SHGC-6123 GM2AP APPROVED pseudo HGNC:4368 INFERRED 735553 GMFB glia maturation factor, beta ENCODES a protein that exhibits actin binding (inferred); enzyme activator activity (inferred); growth factor activity (inferred); INVOLVED IN learning (inferred); locomotory behavior (inferred); negative regulation of protein kinase activity (inferred); FOUND IN intracellular (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 14 14 14 q22.2 34990739 35005274 - 54941202 54955785 - 54474484 54489067 - 6480464 12477932;15592455;16115230;1712830;18029348;18171522;19086053;19322201;20547056;21139048;21835226;21890473;21906983;21963094;22035352;22505724;23000965;23259602;24816145;7598724;8639570;8798479;9030586;9545571 2764 G3V3X4;G3V4P8;P60983 AB001106;AB209240;ABBA01018195;AI342496;AK311753;AL359792;AMYH02029218;BC005359;BG622077;BI547506;BT006784;BX647679;CH471061;CR542113;M86492;NM_004124;XM_005267541;XM_006720118 AAA58614;AAH05359;AAP35430;BAA19232;BAD92477;BAG34696;CAG46910;EAW80638;EAW80639;NP_004115;P60983;XP_005267598;XP_006720181 Hs.151413 2123362;2175562;5106716 D14S1327;RH70723;STS-M86492 GMF GMF-beta;OTTHUMP00000179001;OTTHUMP00000244854;glia maturation factor beta protein-coding ENSG00000197045 HGNC:4373 601713 VALIDATED 1344953 GMIP GEM interacting protein This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 19 19 19 p13.11 19644360 19658530 - 19740285 19754457 - 19629473 19643667 - 1580863;6480464;8554872 12093360;12477932;15375573;16086184;16143398;19913121;20351714;20628086;21890473;22438581;22505724;23974872;24816145;8889548 51291 B4DLZ1;K7EJC2;K7ELE8;K7EQR5;Q9P107 ABBA01051338;AC011458;AF086104;AF132541;AI073975;AK297220;AMYH02035760;BC032057;BC126436;BC144142;BI912857;BM666941;BX362896;CD366767;CH471106;NM_001288998;NM_001288999;NM_016573;XM_005259927 AAF61330;AAI26437;AAI44143;BAG59703;EAW84838;EAW84839;EAW84840;EAW84841;EAW84842;EAW84843;EAW84844;EAW84845;NP_001275927;NP_001275928;NP_057657;Q9P107;XP_005259984 Hs.49427 1686788;5095016 GMIP;RH98505 ARHGAP46 GEM-interacting protein APPROVED protein-coding ENSG00000089639 HGNC:24852 11005 609694 REVIEWED 1322234 GMDS GDP-mannose 4,6-dehydratase GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009] 6 6 6 p25 2852269 3473926 - 1624035 2245868 - 1623800 2245634 - 1580863;6480464;6907045;8554872 11698403;11831876;12477932;14574404;14702039;15489334;16189514;19027726;19199708;19361506;19460752;20237496;20379614;21139048;21502949;21906983;21963094;22020760;22027835;22645305;22863883;22939629;23251661;23730929;23824909;23922970;25027693;8889548;9525924;9603974 2762 O60547 ABBA01048636;ABBA01048637;ABBA01048638;ABBA01048639;ABBA01048640;ABBA01048641;ABBA01048642;ABBA01048643;AF040260;AF042377;AI761361;AK057484;AK130651;AK313953;AL033517;AL034344;AL035693;AL137179;AL158139;AL354670;AL451141;AL561275;AL591048;AMYH02012969;AMYH02012970;AMYH02012971;AMYH02012972;AMYH02012973;AMYH02012974;AMYH02012975;BC000117;BM665440;BQ923510;CH471087;CR541929;CR541947;GM744695;KF458077;KF510946;NM_001253846;NM_001500;XM_006715066 AAC13553;AAC24501;AAH00117;ABM83715;ABM87035;BAG36670;CAG46727;CAG46745;CAV31710;EAW55075;NP_001240775;NP_001491;O60547;XP_006715129 Hs.144496;Hs.660919 1674033;1688730;1694976;1694978;1705858;1719591;1721387;1721405;1730010;1731124;1750097;1763183;1764875;1850526;1853751;2129317;2142167;2167912;2179426;2180823;2183136 A008Q21;AL035375;AL035377;D6S2072;D6S244;D6S356;G59554;G59695;RH123699;RH37472;RH46514;RH46822;RH65641;RH94049;SHGC-112337;SHGC-146912;SHGC-148438;SHGC-53095;SHGC-81190;WI-16749;WI-17181 GMD;SDR3E1 GDP-D-mannose dehydratase;GDP-mannose 4,6 dehydratase;OTTHUMP00000017756;OTTHUMP00000232770;short chain dehydrogenase/reductase family 3E, member 1 APPROVED protein-coding ENSG00000112699 HGNC:4369 11925 602884 VALIDATED 736932 GMEB2 glucocorticoid modulatory element binding protein 2 This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 58899645 58938975 - 62218955 62258381 - 63587602 63627028 - 1580863;6480464;8554872 10523663;10574462;10894151;11743720;11780052;11812797;12477932;15489334;16713569;18029348;21988832;23535732;24250222 26205 Q5JTV1;Q9UKD1 AB033095;ABBA01021404;ABBA01021405;ABBA01021406;ABBA01021407;AF173867;AK298927;AL117510;AL121907;AL133646;AL353715;AMYH02037464;AMYH02037465;BC036305;BQ954281;CH471077;DB474085;NM_012384;XM_005260202;XM_006723776 AAD51351;AAH36305;ABZ92228;BAA86583;BAG61032;CAB63765;CAH56403;EAW75252;EAW75253;EAW75254;NP_036516;Q9UKD1;XP_005260259;XP_006723839 Hs.473286 1679656;1683849;1739215;2147880;2217370 D8S1557;G19672;GMEB2_3809;RH10481;RH16476 GMEB-2;KIAA1269;P79PIF;PIF p79;PIF79 DNA-binding protein p79PIF;OTTHUMP00000031573;OTTHUMP00000031574;OTTHUMP00000031575;glucocorticoid modulatory element-binding protein 2;parvovirus initiation factor p79;parvovirus initiation factor, p79 APPROVED protein-coding ENSG00000101216 HGNC:4371 16245 607451 REVIEWED 1317284 GML glycosylphosphatidylinositol anchored molecule like INVOLVED IN apoptotic process (inferred); DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (inferred); negative regulation of cell proliferation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN anchored component of membrane (inferred); extrinsic component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2-acetamidofluorene (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 8 8 8 q24.3 140225950 140237983 + 143916217 143928262 + 142834801 142846846 + 1580863;6480464;8554872 12477932;15489334;18187620;20237496;20800603;8934543;9169150 2765 E5RI31;Q99445 AB000381;ABBA01005285;ABBA01005286;AC083841;AMYH02018927;BC074930;BC126336;BC126338;CH471162;D84290;NM_002066 AAH74930;AAI26337;AAI26339;ADR82818;BAA12300;BAA19961;EAW82296;NP_002057;Q99445 Hs.661218 1704008;2107165;2157262 GML__6816;RH68307;SHGC-77791 LY6DL GPI anchored molecule like protein;Glycosylphosphatidylinositol-anchored molecule-like protein;OTTHUMP00000227179;glycosyl-phosphatidylinositol-anchored molecule-like protein;glycosylphosphatidylinositol anchored molecule like protein APPROVED protein-coding ENSG00000104499 HGNC:4375 03844 602370 VALIDATED 1317736 GMNN geminin, DNA replication inhibitor This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011] 6 6 6 p22.3 26008534 26019648 + 24775159 24786327 + 24774931 24786099 + 1580863;6480464 11125146;11562349;12429841;12477932;12551974;12745091;14574404;14702039;14973488;14973489;14993212;15138268;15159417;15232106;15257290;15260975;15282313;15284237;15291814;15313623;15389519;15489334;15558010;15855168;16024661;16052631;16273206;16428461;16464175;16482215;16629645;16712791;16924111;17029205;17207965;17261582;17318181;17485275;17716975;18029348;18162579;18184650;18288374;18404646;18508524;18650381;18798731;19074885;19487297;19906994;19913121;20360068;20497246;20628086;20800603;20980834;21139048;21543332;21595939;21693764;21729526;21740351;21906983;21963094;21988832;22053931;22184288;22366459;22429811;22615398;22912832;22918581;23026135;23207902;23326393;23455922;23695679;23814078;23860238;24064211;24292956;24816145;8125298;8889548;9635433;9671596 51053 C9K0U5;E2QRF9;H7C608;O75496 ABBA01066538;AF067855;AK021685;AK222992;AK315743;AL133264;AL558330;AMYH02013329;BC005185;BC005389;BF977182;BG777134;BM699599;CB131959;CB992796;CH471087;HC732448;JB263742;NG_030440;NM_001251989;NM_001251990;NM_001251991;NM_015895;XM_005249159 AAC39787;AAH05185;AAH05389;ADQ32794;BAD96712;BAG51040;CBL95030;CDH63540;EAW55465;EAW55466;NP_001238918;NP_001238919;NP_001238920;NP_056979;O75496;XP_005249216 Hs.234896 1683146;1792868;2106479;2160029 GMNN__6625;PMC166143P6;RH99045;WI-12631 Gem;RP3-369A17.3 OTTHUMP00000016095;OTTHUMP00000016096;OTTHUMP00000016097;OTTHUMP00000214411;geminin APPROVED protein-coding ENSG00000112312 HGNC:17493 06783 602842 REVIEWED 736890 GMFG glia maturation factor, gamma ENCODES a protein that exhibits actin binding (inferred); enzyme activator activity (inferred); growth factor activity (inferred); INVOLVED IN negative regulation of protein kinase activity (inferred); positive regulation of catalytic activity (inferred); protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH copper(2+) sulfate; disodium selenite; fonofos 19 19 19 q13.2 36620680 36628409 - 39818999 39826726 - 39328359 39336086 - 1298632;1580863;6480464;8554872 9653160 10541589;11042152;12477932;12591611;15489334;16169070;17127212;18029348;21139048;21890473;21906983;21963094;21988832;22505724;22510515;23000965;23677465;23897816;24816145;7598724;8639570;8798479;9545571 9535 M0QX47;M0QXC2;M0QXZ6;M0QYD5;M0QYG8;M0QYJ8;M0R0C1;M0R1D2;M0R2P2;O60234 AA648706;AB001993;AB040440;ABBA01040728;ABBA01040729;AC011445;AF038956;AF108027;AMYH02036091;AV714415;BC022207;BC032819;BC061922;BC080180;BC093799;BC101818;BC143543;BC143546;BC143548;BF974742;CH471126;CR456967;CR542114;EB387540;NM_001301008;NM_004877;XM_005259440 AAC39870;AAD27807;AAH32819;AAH80180;AAH93799;AAI01819;AAI43544;AAI43547;AAI43549;BAA25572;BAB86591;CAG33248;CAG46911;EAW56874;NP_001287937;NP_004868;O60234;XP_005259497 Hs.5210 1665777 SGC32767 GMF-GAMMA;MGC126867 glia maturation factor gamma protein-coding ENSG00000130755 HGNC:4374 06821 604104 VALIDATED 5455041 GMNC geminin coiled-coil domain containing ENCODES a protein that exhibits chromatin binding (ortholog); INVOLVED IN cell proliferation (ortholog); FOUND IN nucleus (ortholog) 3 3 3 q28 189000690 189010629 - 190570526 190610190 - 190852737 190892401 - 16641997;20383140;20855966 647309 A6NCL1;G5E9I9 ABBA01058322;AC092952;AMYH02008409;BC031680;CR749823;NM_001146686;XM_005247707 A6NCL1;NP_001140158;XP_005247764 Hs.518490 DKFZp434B153;DKFZp781J1746;GEMC1 OTTHUMP00000209355;geminin coiled-coil domain-containing protein 1 protein-coding ENSG00000205835 HGNC:40049 614448 VALIDATED 1320749 GMPS guanine monphosphate synthase In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008] 3 3 3 q24 154009947 154077188 + 155588325 155657150 + 155870536 155937732 + 1598998;1580863;5135485;5135488;5135537;6480464;6907045;7240710;8699517 11110714;20005278;3043317;6861338 12477932;15489334;1574589;15749019;16236267;16712791;18781797;19471022;19615732;19738201;19834552;20045992;20201926;20562859;20659789;21139048;21145461;21252943;21890473;21906983;21963094;21981925;21988832;22053931;22268729;22505724;22586326;22623428;22863883;22939629;23000965;24462112;24654937;24778252;24816145;25027693;6698284;7559506;7706277;8089153;8125298;9195163 8833 B4DUT7;P49915 ABBA01058846;ABBA01058847;ABBA01058848;AC067721;AC104472;AC140753;AK223399;AK291504;AK300787;AK302148;AK315832;AMYH02007965;AMYH02007966;AMYH02007967;BC012178;BG721087;CB159072;CH471052;HB946314;HD003724;NG_023247;NM_003875;U10860 AAA60331;AAH12178;ABM87620;ABW03913;BAD97119;BAF84193;BAF98723;BAG62449;BAG63519;CBG07889;CBV21411;EAW78740;EAW78741;NP_003866;P49915 Hs.591314 1341092;1691184;1710850;1716789;1768727;2131031;2134507 D3S3587;D3S4088;RH121689;RH93796;SHGC-16466;SHGC-50194;SHGC-84195 GMP synthase;GMP synthase [glutamine-hydrolyzing];GMP synthetase;MLL/GMPS fusion protein;OTTHUMP00000213048;OTTHUMP00000213049;glutamine amidotransferase;guanine monphosphate synthetase;guanosine 5'-monophosphate synthase APPROVED protein-coding ENSG00000163655 HGNC:4378 10927 600358;601626 REVIEWED 1342605 GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013] 19 19 19 p13.3 3028658 3055719 + 3094408 3121468 + 3094410 3124002 + 1580863;1579891;1581847;5131495;6480464;6484113;6907045;8549590;7240710;8699517;8554872 11395409;14624682;16141358;23759942 10446129;10598579;10718832;10789830;11118617;11507095;11524429;11916537;12130679;12193606;12193720;12401211;12477932;12670961;12759536;1302014;1322796;14702039;15057824;15322542;15489334;15507206;15623527;15632174;15693018;15863506;16102047;16297597;16350855;16365309;16611642;16723377;17056873;17110338;17535809;17552882;17603074;17897319;18240029;18632858;18713748;18781797;18936096;1902575;19056867;19322201;20531218;21083380;21139048;21366456;21464134;21890473;21906983;21945171;21963094;21987572;22240728;22307269;22758774;22939629;22977135;23000965;23493750;23572068;23599145;23634288;23778528;23802516;23802536;23802749;24308950;24497640;24970262;7492305;7797501;7937899;8317484;8530500;8552586;8621713;8836152;9152406;9175863;9462300;9481484;9858594 2767 K7EL62;P29992 AB209435;ABBA01002798;AC005262;AF011497;AF493900;AK091639;AL110227;AMYH02035238;BC001528;BC051315;BC063426;BC089041;BC096225;BC096226;BC096227;BC111027;CH471139;CR457004;HY118575;KF456478;L40630;M69013;NG_033852;NM_002067 AAA58624;AAA99949;AAB64303;AAC25615;AAH89041;AAH96225;AAH96226;AAH96227;AAM12614;BAD92672;CAG33285;CAH56407;EAW69339;EAW69340;NP_002058;P29992 Hs.650575;Hs.654784 1681961;2131583 RH47293;RH79805 FBH;FBH2;FHH2;GNA-11;HHC2;HYPOC2 G-protein subunit alpha-11;g alpha-11;guanine nucleotide-binding protein G(y) subunit alpha;guanine nucleotide-binding protein subunit alpha-11;guanine nucleotide-binding protein, Gq class, GNA11 protein-coding ENSG00000088256 HGNC:4379 00759 139313;145981;615361 REVIEWED 4890559 GMPSP1 guanine monphosphate synthetase pseudogene 1 4 4 4 p16.1 8068062 8068658 + 8176151 8176747 + 8174424 8175020 + 728564 ABBA01008688;AC104650;AMYH02008695;CH471131;NG_023314 EAW82356 1691184;1715571;1768727;2119102;2134507;2189241 G41958;G65168;RH120927;RH93796;SHGC-16466;SHGC-50194 pseudo HGNC:39428 INFERRED 733310 GMPR guanosine monophosphate reductase This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009] 6 6 6 p23 17476654 17533599 + 16238811 16295780 + 16238580 16295549 + 1580863;1300048;6480464;6907045 12009299;12477932;14574404;15489334;16359702;1661705;1694726;17207965;1757097;19936222;20864672;2194676;22331829;22780124;23377640;2364435;2570640;2758468;8188226;8750194;9813009 2766 P36959 ABBA01022184;ABBA01022185;ABBA01022186;AL009031;AL138883;AMYH02013178;AMYH02013179;BC008281;CH471087;L35304;M24470;M27941;NG_013303;NM_006877 AAA52498;AAA52503;AAA53106;AAH08281;ACE86729;ACE87415;ADQ32308;EAW55368;EAW55369;NP_006868;P36959 Hs.484741 1691048;1694946;2158642;2160837 AL008736;G44372;RH17680;RH92529 GMPR1 GMP reductase 1;OTTHUMP00000016064;guanine monophosphate reductase;guanosine 5'-monophosphate oxidoreductase 1;guanosine monophosphate reductase 1 APPROVED protein-coding ENSG00000137198 HGNC:4376 00754 139265 REVIEWED 1343245 GMPR2 guanosine monophosphate reductase 2 ENCODES a protein that exhibits GMP reductase activity; INVOLVED IN GMP metabolic process; PARTICIPATES IN purine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); GMP reductase complex (inferred); INTERACTS WITH 2-methylcholine; copper(2+) sulfate; elemental selenium 14 14 14 q12 4566286 4573086 + 24701633 24708448 + 24232422 24239242 + 1580863;6480464;6907045;8554872 10737800;11752456;12009299;12477932;12669231;15342556;15489334;17207965;21048031;21139048;22037469;22863883;23208589;24561123;24816145 51292 H0YK13;H0YK71;H0YKE1;H0YKK3;H0YL68;H0YLB8;H0YLV5;H0YMB3;H0YMG3;H0YMR9;H0YMV5;H0YMW6;H0YN22;H0YN74;H0YNH0;H0YNJ6;H0YNS9;Q6PKC0;Q86SZ5;Q9P2T1 AB032903;ABBA01061339;AF086919;AF135159;AF419346;AK226166;AL096870;AMYH02028880;AV660418;BC003053;BC008021;BC009832;BC093039;BE003291;BI259066;BP347823;BX161436;BX161518;BX247993;BX375671;CA447126;CH471078;CR457156;NM_001002000;NM_001002001;NM_001002002;NM_001283021;NM_001283022;NM_001283023;NM_016576;NR_104265;XM_005267740;XM_005267741;XM_005267742;XM_006720165;XR_429318 AAG09132;AAH03053;AAH08021;AAH09832;AAH93039;AAN32701;AAP97149;ADQ32069;BAA93080;CAD61908;CAD61951;CAD62327;CAG33437;EAW66051;EAW66052;EAW66053;EAW66054;EAW66055;EAW66056;EAW66057;EAW66058;NP_001002000;NP_001002001;NP_001002002;NP_001269950;NP_001269951;NP_001269952;NP_057660;Q9P2T1;XP_005267797;XP_005267798;XP_005267799;XP_006720228 Hs.368855 1701224;2109357;2119068;2135624;2176945;5092636 A005K12;G32230;GMPR2_9700;RH104240;STS-F10804;STS-W60872 MGC15084;MGC830 GMP reductase 2;guanosine 5'-monophosphate oxidoreductase 2;guanosine monophosphate reductase isolog protein-coding ENSG00000100938 HGNC:4377 13590 610781 VALIDATED 1607034 GMPPA GDP-mannose pyrophosphorylase A This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008] 2 2 2 q35 214133579 214141710 + 220363587 220371718 + 219498865 219506996 + 6480464;6907045;8699517;7240710;8554872 11082198;12477932;14702039;15146197;15231747;15342556;16189514;17623298;20301507;21139048;21145461;21890473;21906983;21963094;21988832;22053931;22797925;22863883;22939629;24035193;24163370;8125298 29926 C9J255;C9JAH0;F8WD54;Q96IJ6 AB209592;ABBA01023840;AC053503;AF135422;AK000999;AK022578;AK222951;AK290671;AK296193;AMYH02005823;AX879382;BC007456;BC014266;BP284488;BP366441;CH471063;CN309976;NG_033833;NM_013335;NM_205847;XM_005246483;XM_005246485;XM_005246486;XM_005246487;XR_241307 AAD38517;AAH07456;AAY15053;ABM83799;ABM87120;BAA91460;BAD92829;BAD96671;BAF83360;BAG51096;BAG58922;CAE90490;EAW70755;EAW70756;EAW70757;EAW70758;EAW70759;NP_037467;NP_995319;Q96IJ6;XP_005246540;XP_005246542;XP_005246543;XP_005246544 Hs.27059 1675527;1734858;1761869;1800036;1801998;1803744;1804226;1804530;1817046;1817354;1819494;1830274;1844898;1964428;1964430;1964432;1964434;1964436;1964438;1964440;1964442;1964444;1964446;1964448;1964450;1964452;1964454;1964456;1964458;1964460;1964462;1964464;1964466;1964468;1964470;1964472;1964474;1964476;1964478;1964480;1964482;1964484;1964486;1964488;1964490;1964492;1964494;1964496;1964498;1964500;1964502;1964504;1964506;1964508;1964510;1964512;1964514;1964516;1964518;2191781;2213984;2213986;2213988;2213990;2213992;2213994;2213996;5021481 A007H40;D2S1608E;ECD00873;ECD01880;ECD02779;ECD03036;ECD03194;ECD09572;ECD09727;ECD10814;ECD16271;ECD23665;MARC_7531-7532:996687912:1;REN53088;REN53089;REN53090;REN53091;REN53092;REN53093;REN53094;REN53095;REN53096;REN53097;REN53098;REN53099;REN53100;REN53101;REN53102;REN53103;REN53104;REN53105;REN53106;REN53107;REN53108;REN53109;REN53110;REN53111;REN53112;REN53113;REN53114;REN53115;REN53116;REN53117;REN53118;REN53119;REN53120;REN53121;REN53122;REN53123;REN53124;REN53125;REN53126;REN53127;REN53128;REN53129;REN53130;REN53131;REN53132;REN53133;RH98301;SHGC-145814;stSG633040;stSG633041;stSG633042;stSG633043;stSG633044;stSG633045;stSG633046 AAMR GMPP-alpha;GTP-mannose-1-phosphate guanylyltransferase alpha;OTTHUMP00000064859;OTTHUMP00000064860;OTTHUMP00000064861;OTTHUMP00000064862;OTTHUMP00000071324;OTTHUMP00000199572;mannose-1-phosphate guanyltransferase alpha;mannose-1-phosphate guanylyltransferase (GDP) APPROVED protein-coding ENSG00000144591 HGNC:22923 13588 615495;615510 REVIEWED 1607035 GMPPB GDP-mannose pyrophosphorylase B This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009] 3 3 3 p21.31 49723623 49726075 - 49758909 49761407 - 49721476 49723974 - 6480464;6907045;8699517;7240710;8554872 11082198;11347906;12477932;12843293;12975309;14702039;15489334;16189514;16344560;20307617;20877624;21139048;21297633;21963094;22053931;22863883;22939629;23768512 29925 Q9Y5P6 ABBA01024577;AC099668;AF135421;AK024319;AK026582;AK291700;AMYH02006756;BC001141;BC008033;CH471055;DA411701;HB882073;HB899650;HC939482;HC957059;NG_033731;NM_013334;NM_021971 AAD38516;AAH01141;AAH08033;ADZ15722;BAB14882;BAF84389;CBF65311;CBF78479;CBU90182;CBU98600;EAW65012;EAW65013;EAW65014;EAW65015;NP_037466;NP_068806;Q9Y5P6 Hs.567488 1675610;1684495;1712112;1735236;1852317;1856980;2117546;2128368;2177221;2182057 A004P45;A005X28;D3S2901E;G54105;RH15941;RH47478;RH78233;RH78461;RH91732;WI-18664 KIAA1851;MDDGA14;MDDGB14;MDDGC14 GTP-mannose-1-phosphate guanylyltransferase beta;OTTHUMP00000212649;OTTHUMP00000212650;OTTHUMP00000212651;mannose-1-phosphate guanyltransferase beta;mannose-1-phosphate guanylyltransferase APPROVED protein-coding ENSG00000173540 HGNC:22932 13589 615320;615350;615351;615352 REVIEWED 8655484 GNA14-AS1 GNA14 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 9 9 80071212 80141678 + 77456301 77526762 + 8554872 12477932 101927422 ABBA01033929;ABBA01033930;ABBA01033931;AL158159;AL353794;AMYH02021034;AMYH02021035;AMYH02021036;BC043514;BI830360;HG502146;NR_121184;XR_242628;XR_250488;XR_252597 Hs.434324 ncrna ENSG00000231373 HGNC:50451 VALIDATED 7240962 GNAI2P2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 2 10 10 10 q22.3 73114424 73117378 - 79828389 79829298 - 78068631 78069540 - 401646 ABBA01020223;AL731555;AMYH02023390;NG_030117 1706094;2165294 AFMa343xe1;SHGC-80084 pseudo HGNC:45110 INFERRED 730824 GNAI1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 7 7 7 q21 74464804 74549389 + 79764140 79848725 + 80134824 80219409 + 1642020;6480464;6484113;6907045;8549590;8554872 12890892;23759942 10364213;10471510;10488065;10506573;10598591;10644671;10690676;10840027;10878019;10973974;10978845;11069896;11076863;11118617;11168387;11196645;11230166;11253162;11256614;11259487;11306274;11369763;11387333;11507164;11732925;11842095;11916537;11955952;11976690;11980706;11981043;12068084;12202484;12297512;12379657;12477932;12496284;12509430;12538595;12629551;12711604;12761884;12853948;12860983;14530282;14576516;14581469;14602724;14623889;14625285;14656218;14993377;15242332;15251452;15488169;15489334;15489336;15537540;15569929;15657046;15837785;15863506;15972662;16004878;16099817;16298104;16371464;16381901;16484338;16530190;16775006;16778767;16782902;16892066;17013094;17215244;17255364;17267663;17416965;17635935;17646583;17897319;18037379;18083345;18240029;18378672;18453587;18519563;18577758;18984596;1902575;19056867;19338310;19369247;19494521;1953657;19641626;19666700;19899154;19913121;19951712;20360068;20468064;20586915;20628086;20679342;20696855;20716524;20829352;21139048;21565611;21654736;21726808;21880739;21890473;21906983;21963094;21987572;21988832;22070874;22230296;22360420;22505724;22939629;23000965;23086480;23179791;23341447;23404499;23467353;23841650;2440724;2834384;3092218;3110783;3130752;3139448;7914078;7937899;8107314;8183236;8208289;8504751;8521505;8552586;8619474;8626678;8986788;9110174;9207071;9572280;9660808;9748257 2770 C9J2Z2;C9JL77;C9JPP4;P63096 ABBA01058047;ABBA01058048;AC004159;AC080066;AF055013;AF493905;AI878901;AK292953;AK304442;AL049933;AMYH02016138;AMYH02016139;AMYH02016140;BC026326;BT019775;CD299597;CH236949;CH471091;KF495987;M17219;M20594;NM_001256414;NM_002069 AAA35893;AAA52581;AAC03418;AAC09361;AAH26326;AAM12619;AAV38580;ABM83311;ABM86524;ABM86525;BAF85642;BAG65263;CAB43212;CAL38533;EAW77009;EAW77010;EAW77011;EAW77012;NP_001243343;NP_002060;P63096 Hs.134587 1337520;1656549;1671326;1755153;1795932;1856965;2113708;2114577;2149625;2152661;2174604;7185300 D7S2639;D7S2741;D7S634;G17154;GDB:1318186;GNAI1;GNAI1_981;RH16584;SHGC-142078;SHGC-30450;SHGC-56112 Gi Gi1 protein alpha subunit;OTTHUMP00000161319;OTTHUMP00000208047;adenylate cyclase-inhibiting G alpha protein;guanine nucleotide-binding protein G(i) subunit alpha-1 APPROVED protein-coding ENSG00000127955 HGNC:4384 00756 139310 REVIEWED 732491 GNA12 guanine nucleotide binding protein (G protein) alpha 12 ENCODES a protein that exhibits G-protein beta/gamma-subunit complex binding (inferred); GTP binding (inferred); GTPase activity (inferred); INVOLVED IN regulation of proteasomal ubiquitin-dependent protein catabolic process; regulation of TOR signaling; regulation of fibroblast migration (ortholog); PARTICIPATES IN eicosanoid signaling pathway; endothelin signaling pathway; sphingosine 1-phosphate signaling pathway; FOUND IN focal adhesion; INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; cobalt dichloride 7 7 7 p22.2 2736337 2852578 - 2767739 2883963 - 2728105 2844325 - 1580863;6480464;6484113;6907045 10026210;10477691;10648409;10787407;11069896;11094164;11136230;11313914;11546812;11598136;11976333;12117999;12123608;12176367;12297512;12477932;12515866;12594220;12623966;12690205;12761884;12853948;14634662;14636890;14702039;15221642;15240885;15489334;15525651;15746095;15980433;16247467;16612612;16705036;16787920;17510313;17565996;17595347;17878759;18307725;18320579;18367648;18391951;18541530;18713748;19008857;19226283;19343178;19422395;19716891;19772916;20044778;20160064;20189936;20379614;20546612;20837139;20876399;20881960;21110914;21139048;21212405;21297633;21308712;21472140;21592972;21726808;21832049;21906983;21986993;21988832;22087220;22126963;22249312;22940628;23000965;23128233;23218918;23762476;24055910;24114843;7791744;7829508;7937899;8290554;8423800;8552586;8647866;8824244;9485474;9796816 2768 C9J2Y7;E9PC54;Q03113;Q6ZQV4 ABBA01039389;ABBA01039390;AC004933;AC006028;AF493901;AI381970;AK024696;AK024834;AK025582;AK025894;AK122830;AK127842;AK128701;AK295830;AL512719;AMYH02015081;AMYH02015082;AMYH02015083;AMYH02015084;BC007400;BC009457;BC063396;BC087537;BC111464;BI553022;BM557907;CA446135;CH236953;CH471144;L01694;NM_001282440;NM_001282441;NM_001293092;NM_007353 AAA35867;AAD05026;AAH87537;AAI11465;AAM12615;AAP21870;AAP21871;BAC87579;BAG54584;BAH12193;EAL23961;EAW87272;EAW87273;EAW87274;NP_001269369;NP_001269370;NP_001280021;NP_031379;Q03113 Hs.487341 1339987;1644900;1669464;1671412;1688408;1697802;1797586;2119138;2122702;2131595;2171637;2173392;2174912;2182562;2183225 D12S364;GDB:1318700;GDB:1318724;GDB:4585499;GNA12_2314;IB3257;RH102425;RH17789;RH47160;RH48509;RH91763;SGC30408;SHGC-2608;SHGC-55936;WI-8539 MGC104623;MGC99644;NNX3;RMP;gep G-protein subunit alpha-12;OTTHUMP00000149934;WUGSC:H_GS165O14.2;g alpha-12;guanine nucleotide binding protein, alpha 12;guanine nucleotide-binding protein subunit alpha-12 protein-coding ENSG00000146535 HGNC:4380 05093 604394 VALIDATED 1320997 GNA13 guanine nucleotide binding protein (G protein), alpha 13 ENCODES a protein that exhibits GTP binding (inferred); metal ion binding (inferred); INVOLVED IN blood coagulation (inferred); cell differentiation (inferred); cellular component movement (inferred); PARTICIPATES IN eicosanoid signaling pathway; sphingosine 1-phosphate signaling pathway; long term depression; FOUND IN extracellular vesicular exosome; focal adhesion; membrane; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-) 17 17 17 q24.3 59576648 59624165 - 63005407 63052920 - 65009289 65056802 - 1580863;6480464;6484113;6907045 10026210;10395940;10488065;10488151;10598579;10644457;10648409;10747909;10816569;10821841;10922491;11062019;11094164;11136230;11696326;11976333;11994484;12117999;12123608;12135322;12176367;12297512;12399457;12477932;12509430;12515866;12594220;12623966;12681510;12767884;14634662;14702039;15489334;15735747;15761153;15782186;16046415;16212421;16418336;16601072;16787920;17056591;17081065;17449226;17493936;17510313;17595347;17878759;18320579;18541530;18577758;18703424;18713748;18922893;19074425;19093215;19226283;19322201;19390533;19422395;19615732;19654325;19772916;19946888;20044778;20075254;20160064;20379614;20876399;20974127;21139048;21148034;21212405;21592972;21757753;21890473;21906983;21934106;22661716;23000965;23329838;23454662;23508014;23699601;24583282;24816145;7791744;7937899;8290554;8552586;8824244;8999798;9092554;9641916 10672 Q14344 AB075500;ABBA01029053;ABBA01029054;AC037487;AF493902;AK002117;AK026902;AK301699;AK302400;AK313672;AMYH02033801;AMYH02033802;AW298099;BC036756;CH471099;DC335364;L22075;NM_001282425;NM_006572 AAA74235;AAH36756;AAM12616;ABM84498;ABM85374;BAG36424;BAG63171;BAH13696;EAW88993;EAW88994;EAW88995;EAW88996;NP_001269354;NP_006563;Q14344 Hs.515018 1340693;1851725;2155817;2158364;2184870 D17S1825;D17S2016;RH18264;RH47479;WI-19650 G13;MGC46138 G-protein subunit alpha-13;g alpha-13;guanine nucleotide-binding protein subunit alpha-13 protein-coding HGNC:4381 05100 604406 VALIDATED 730993 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] 3 3 3 p21.31 50246476 50269614 + 50264120 50296786 + 50226688 50259354 + 704404;1598461;1580863;6480464;6484113;6907045;7240710;8549590;7401256;8699517;8554872 22949090;23759942;9637720 10471929;10493819;10518015;10598579;10644723;10727522;10840027;10906137;10978845;11055978;11118617;11120746;11168387;11196645;11253162;11286993;11369591;11387333;11950062;11955952;12068084;12088413;12193720;12359238;12477932;12509430;12519789;12624107;12748287;12860983;14623802;14634662;14701866;14702039;14993377;15047060;15126921;15251452;15312896;15331550;15489334;15640523;15782186;15972662;16169070;16189514;16263121;16298104;16344560;16371464;16565233;1671672;16782902;16892066;17110338;17139258;1718802;17215244;17255364;1733849;17550964;17635935;18240029;18453587;18577758;18854172;18940181;19169048;19282110;19367581;19542234;19913121;19946888;20360068;20628086;20876399;21079996;21139048;2114093;2116665;2121366;2169434;21856938;21890473;21906983;21949112;21963094;21987572;21988832;22230296;22333621;22505724;22863883;22936789;22939629;23000965;23071112;23398456;23430985;23490066;23665327;24011658;24298018;24457600;24654937;24816145;25015289;2502457;25027693;2512386;2834384;2837412;3100330;3120178;7737262;7882989;7887906;7937899;7961880;7962171;8098045;8190105;8208289;8362897;8473899;8521505;8552586;8554519;8587610;8621645;8662698;8663053;8663057;8663226;8903513;8973305;8982657;8986788;9079700;9092559;9237368;9647645;9660808 2771 B3KP24;B3KX51;F8WBG4;F8WE78;P04899 ABBA01024553;AC002077;AF493906;AK055574;AK096299;AK096595;AK126708;AK131062;AK302330;AK304473;AMYH02006766;AY677118;BC012138;BC014627;BC016995;CH471055;CR456783;DA528337;DB044421;HY037331;J03004;M20593;NG_016002;NM_001166425;NM_001282617;NM_001282618;NM_001282619;NM_001282620;NM_002070;U73166;U73169;X04828;X07854 AAA35894;AAA52556;AAD12229;AAD12230;AAH12138;AAH14627;AAH16995;AAM12620;AAT78421;ABM83709;ABM86834;BAG51536;BAG53252;BAG53334;BAG54363;BAG63662;BAG65287;CAA28512;CAA30703;CAG33064;EAW65051;EAW65052;EAW65053;EAW65054;EAW65055;EAW65056;NP_001159897;NP_001269546;NP_001269547;NP_001269548;NP_001269549;NP_002061;P04899 Hs.77269 1712547;1741437;1743089;1790215;2124811;2130974;2158694;5014051;5022200;5037552 BI273769;D8S2278;D8S2279;G07074;GDB:181210;GDB:251998;L18426;M13963;RH17625;SGC31568 GIP;GNAI2B;H_LUCA15.1;H_LUCA16.1 GTP-binding regulatory protein Gi alpha-2 chain;OTTHUMP00000211065;OTTHUMP00000211066;OTTHUMP00000211067;OTTHUMP00000211070;adenylate cyclase-inhibiting G alpha protein;guanine nucleotide-binding protein G(i) subunit alpha-2;guanine nucleotide-binding protein G(i), alpha-2 subunit APPROVED protein-coding ENSG00000114353 HGNC:4385 00764 139360;192605 REVIEWED 732130 GNA15 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) ENCODES a protein that exhibits signal transducer activity; INVOLVED IN positive regulation of cytosolic calcium ion concentration; PARTICIPATES IN eicosanoid signaling pathway; endothelin signaling pathway; sphingosine 1-phosphate signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH (-)-demecolcine; formaldehyde; methyl methanesulfonate 19 19 19 p13.3 3072520 3100641 + 3136191 3163766 + 3136193 3163768 + 1580863;5131495;6480464;6484113;6907045;8554872 11395409 10571060;10644723;10973974;11118617;11686331;12095632;12401211;12477932;12647293;12670499;12748287;12885252;1302014;1322796;14535952;14551213;15057824;15489334;16102047;16218966;17207965;18240029;18755267;1905813;19275934;19687291;20150327;20445134;20736409;21486497;21832049;22227248;22505724;23200847;24204697;7608160;7703490;7797501;7937899;8415674;8863838;9572309;9742207;9843397;9988720 2769 K7EP74;P30679 ABBA01002799;ABBA01002800;ABBA01002801;ABBA01002802;AC005262;AC005264;AF493904;AK291329;AK300481;AMYH02035240;BC013585;BG178215;BQ015560;BT009850;CH471139;GU727637;GU727645;KF456471;M63904;NM_002068 AAA35860;AAC25612;AAC25616;AAH13585;AAM12618;AAP88852;ADQ32735;ADU87639;ADU87646;BAF84018;BAG62197;EAW69338;NP_002059;P30679 Hs.73797 1299905;1660046;2107167;2171099 D19S247;G13205;GNA15__7519;RH11456 GNA16 G-protein subunit alpha-15;G-protein subunit alpha-16;epididymis tissue protein Li 17E;g alpha-15;g alpha-16;guanine nucleotide-binding protein subunit alpha-15;guanine nucleotide-binding protein subunit alpha-16 protein-coding ENSG00000060558 HGNC:4383 00760 139314 VALIDATED 1349450 GNAI2P1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 1 12 12 p13.1 14407760 14408520 + 14254826 14255586 + 1733849 2772 ABBA01067872;AC092112;AMYH02026088;NG_027930 GNAI2A;GNAI2L APPROVED pseudo HGNC:4386 139180 INFERRED 1353631 GNAQP1 guanine nucleotide binding protein (G protein), q polypeptide pseudogene 1 2 2 2 q21.1 125902976 125905142 - 132180315 132182508 - 131422742 131424935 - 8825633 2777 ABBA01028239;AC022629;AC073869;AMYH02004809;NG_000862;U40037 1687417;1787194;2175720 RH68297;SHGC-53345;SHGC-85075 GNAQP APPROVED pseudo HGNC:4391 INFERRED 1349997 GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 18 18 18 p11.22-p11.21 11568478 11764014 + 11689014 11885684 + 11689015 11885685 + 1580863;6480464;6484113;6907045;8699517;7240710;8554872 10026232;11032382;11901355;12037684;12477932;12782961;1302014;14702039;14993377;15342556;16044173;16344560;16818375;17166517;17207965;19245791;19328558;19615732;20133939;20301334;20360068;20379614;21110914;21139048;21890473;21906983;21963094;21987572;22120635;22505724;23000965;23222958;23449625;23459443;23759320;24144882;24151159;24222099;24535567;7937899;8243272;8663304;8889548 2774 A8K1Y9;K7EMY6;K7EPE2;K7EQ80;P38405 ABBA01073998;ABBA01073999;ABBA01074000;ABBA01074001;ABBA01074002;AF493893;AK090868;AK290054;AK295088;AK307260;AK313902;AK316141;AMYH02034316;AMYH02034317;AMYH02034318;AP001120;AP001269;AP005137;BC050021;BP230966;BU163496;BX097239;CB241142;CH471113;CQ759976;DA190390;DB475200;DC323877;DC336037;L10665;NG_033866;NM_001142339;NM_001261443;NM_001261444;NM_182978;U55184;XM_006722323;XM_006722324;XR_243798 AAC37535;AAD00085;AAH50021;AAM12607;ADQ32485;BAC03535;BAF82743;BAG36625;BAG58129;BAH14512;CAF32888;EAX01573;EAX01574;NP_001135811;NP_001248372;NP_001248373;NP_892023;P38405;XP_006722386;XP_006722387 Hs.136295;Hs.741448 1335503;1645695;1682051;1685750;1701634;1713425;1713875;1744843;1744845;1744847;2107169;2122566;2132125;2152345;2159945;2162676;2176621;5016596;5020948;7185722;7186480 D18S1193;D18S1241;D18S482;G17678;G35510;GDB:569370;GDB:569480;GDB:569515;GDB:631802;GNAL__7520;RH104461;RH119368;RH119570;RH42015;SGC30688;STS-N37055;WI-12711;WI-15313;WI-20459 DYT25 OTTHUMP00000162435;OTTHUMP00000162436;adenylate cyclase-stimulating G alpha protein, olfactory type;guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory typ;guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide, olfactory type;guanine nucleotide-binding protein G(olf) subunit alpha protein-coding ENSG00000141404 HGNC:4388 00758 139312;615073 REVIEWED 2300358 GNAS-AS1 GNAS antisense RNA 1 This gene produces a paternally-imprinted antisense RNA transcript that helps regulate the GNAS complex locus, which encodes the alpha subunit of the stimulatory G protein. Defects in this gene are a cause of pseudohypoparathyroidism type Ib.[provided by RefSeq, Jun 2010] 20 20 20 q13.32 54134432 54166399 - 57393973 57425958 - 58818918 58850903 - 6480464;8699517;8554872 10716699;10749992;11056047;11889554;16344560;19656776;23725790 149775 ABBA01005969;AJ251759;AL132655;AMYH02037373;BF589977;DB067618;HG511484;NG_021433;NR_002785 Hs.122718 1793860 PMC301417P2 GNAS-AS;GNAS1AS;NCRNA00075;NESP-AS;SANG GNASAS;NESPAS APPROVED ncrna ENSG00000235590 HGNC:24872 610540 REVIEWED 731003 GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012] 1 1 1 p13 108360485 108407751 + 110091186 110138465 + 109548564 109595843 + 1580863;6480464;6484113;6907045;7240710;7401256;8554872;8699517 22949090 10072511;10092682;10364213;10508224;10598579;10633085;10644457;10737800;10978845;11055978;11118617;11168387;11196645;11253162;11387333;11443111;11563974;11752444;11955952;11961076;12379657;12477932;12509430;12826607;12860983;12925752;14993377;15251452;15342556;15488169;15489334;16298104;16371464;16511171;16782902;16892066;17100651;17215244;17635935;17897319;18240029;18453587;18577758;18628988;18663145;18781797;1902575;19056867;19322201;19738201;19808657;19946888;20065032;20125088;20190146;20360068;20379614;20607800;2108158;21139048;21209316;21795707;21890473;21906983;21931697;21963094;21987572;21988832;22053931;22186894;22230296;22505724;22560091;22863883;22939629;22940628;23000965;23389635;23398456;23798571;23824909;2440724;2452165;24654937;25027693;2834384;3109953;3120178;3132707;7608168;7829101;7962171;8208289;8218170;8316840;8504751;8521505;8524874;8552586;8626678;8650218;8663053;8774883;8806649;8986788;9079700;9600933;9647645;9858594 2773 P08754 ABBA01068380;AF493907;AI684171;AK130069;AK311691;AK312252;AL355310;AMYH02001711;AW984247;BC025285;BE886720;BI492787;BP289420;BT019973;BT019974;BU195094;BU622030;CH471122;CX165017;J03005;J03198;J03238;M20604;M27543;NG_032795;NM_006496 AAA35895;AAA35896;AAA35939;AAA52557;AAA52579;AAH25285;AAM12621;AAV38776;AAV38777;ABM83788;ABM87110;BAG35184;EAW56393;NP_006487;P08754 Hs.73799;Hs.741171 1683197;1692184;1706980;1761359;2155699;2161513;5119482 AL033729;D1S3364;D1S3455;RH99215;SHGC-145381;SHGC-75278;SHGC-80989 87U6;ARCND1;FLJ26559 OTTHUMP00000013368;g(i) alpha-3;guanine nucleotide-binding protein G(k) subunit alpha APPROVED protein-coding HGNC:4387 00765 139370;602483 REVIEWED 1317712 GNA14 guanine nucleotide binding protein (G protein), alpha 14 This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009] 9 9 9 q21 50615129 50840361 - 80037995 80263232 - 77423079 77648316 - 1580863;5131495;6480464;6484113;6907045;8549590;8554872 11395409;23759942 10191087;10625681;10644457;11118617;11264236;12477932;1322796;15489334;16102047;16115892;17620339;18240029;18360038;19687291;19913121;20379614;20628086;22711498;23455924;23975421;7797501;7937899;8316840;8626727;8982657;9862775 9630 O95837 ABBA01033927;ABBA01033928;ABBA01033929;ABBA01033930;ABBA01033931;ABBA01033932;ABBA01033933;AF105201;AF493903;AI263118;AI629022;AK312460;AL158159;AL353794;AL355535;AL359849;AMYH02021034;AMYH02021035;AMYH02021036;AMYH02021037;AMYH02021038;AMYH02021039;AMYH02021040;AMYH02021041;BC027886;CH471089;NM_004297 AAD17944;AAH27886;AAM12617;ABM81875;ABM81880;ABM85042;ABW03688;BAG35367;EAW62603;NP_004288;O95837 Hs.657795 1699384;1706582;1718511;1756743;1760355;1787134;2110429;2173727 GNA14_8966;RH103280;RH122457;RH70085;SHGC-141947;SHGC-143870;SHGC-155377;SHGC-82681 G-protein subunit alpha-14;OTTHUMP00000021515;g alpha-14;guanine nucleotide-binding protein 14;guanine nucleotide-binding protein subunit alpha-14 APPROVED protein-coding ENSG00000156049 HGNC:4382 05095 604397 REVIEWED 731076 GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O ENCODES a protein that exhibits corticotropin-releasing hormone receptor 1 binding (inferred); G-protein beta/gamma-subunit complex binding (inferred); G-protein coupled serotonin receptor binding (inferred); INVOLVED IN adenylate cyclase-modulating G-protein coupled receptor signaling pathway (inferred); aging (inferred); dopamine receptor signaling pathway (inferred); PARTICIPATES IN endothelin signaling pathway; Hedgehog signaling pathway; sphingosine 1-phosphate signaling pathway; ASSOCIATED WITH Athetosis (inferred); Autosomal dominant inheritance (inferred); Cerebral atrophy (inferred); FOUND IN intracellular (inferred); membrane (inferred); neuron projection (inferred); INTERACTS WITH arsenite(3-); atrazine; cadmium atom 16 16 16 q13 40722067 40888176 + 56225251 56391356 + 56191339 56357444 + 1300048;1580863;1302571;6480464;6484113;6907045;8699517;7240710;8554872 9501252 10066808;10196137;10330115;10364213;10521440;10598591;10753665;10926822;10973974;11069896;11118617;11124982;11253162;11259487;11395521;11732925;11916537;12039967;12477932;12509430;12711604;12860983;12911629;12925752;1322796;1349607;14702039;15215290;15251452;1556134;16169070;16344560;16352729;16892066;17185339;17500595;18240029;18262754;18407463;1899283;1899868;1901650;19497306;19666700;20097574;20360068;20379614;20602615;20829352;21139048;21511947;21890473;21906983;21963094;21987572;22505724;22562654;23000965;23824909;23984917;23993195;24250222;24366063;24816145;2518353;3124840;7705473;7887906;8078296;8107314;8208289;8393523;8521505;8552586;8869990;8986788;9050846;9079700;9271201;9359829;9572280;9647645;9660808 2775 B3KP89;H3BN82;H3BNR5;H3BQG8;H3BTM2;P09471;Q6AWC5;Q8N6I9 ABBA01025240;ABBA01025241;ABBA01025242;AC009102;AC079411;AF493894;AF493895;AK056008;AK295680;AL512686;AMYH02032084;BC012202;BC030027;BX647214;CH471092;CR936770;DA115582;DA500625;DA529437;M19182;M59927;M60156;M60162;M60164;NM_020988;NM_138736;Y18213 AAA52584;AAA52585;AAA52586;AAH30027;AAM12608;AAM12609;ACE86931;ACE87618;BAG51601;BAG58537;CAB46639;CAH10548;EAW82849;EAW82850;NP_066268;NP_620073;P09471 Hs.644524 1337875;1341768;1646289;1648184;1696168;1729805;1738511;1738513;1738667;1752529;1758827;1759321;1766855;2123778;2134249;2172331;7184681;7186507;7187397 D16S2698;D16S2699;D16S2786;D16S3140;D16S317;D16S408;D16S434E;D16S736;G10169;RH68394;RH71386;SHGC-106383;SHGC-151028;SHGC-151169;SHGC-152262;SHGC-79158 DKFZp686O0962;EIEE17;G-ALPHA-o;GNAO OTTHUMP00000164318;OTTHUMP00000164319;guanine nucleotide binding protein, alpha activating polypeptide O;guanine nucleotide-binding protein G(o) subunit alpha protein-coding ENSG00000087258 HGNC:4389 00757 139311;615473 VALIDATED 1604949 GNAT3 guanine nucleotide binding protein, alpha transducing 3 ENCODES a protein that exhibits GTP binding (inferred); metal ion binding (inferred); INVOLVED IN adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (inferred); blood coagulation (inferred); GTP catabolic process (inferred); PARTICIPATES IN visual phototransduction pathway; ASSOCIATED WITH Diabetes Mellitus, Experimental (ortholog); FOUND IN protein complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4-hydroxynon-2-enal (ortholog); [N-(4-cyanophenyl)-N'-(diphenylmethyl)guanidine]acetic acid (ortholog) 7 7 7 q21.11 74788606 74841838 - 80087987 80141242 - 80458671 80511926 - 2302147;6480464;6907045 18824257 10570481;11118617;11917125;12477932;12690205;12853948;16728727;16892066;17021831;17724330;17724332;18240029;18468998;20360068;20660057;20858777;21139048;21324568;21890473;21906983;21963094;21987572;22456541;22505724;23000965;8015379;8208289;8521505 346562 A8MTJ3 ABBA01058051;ABBA01058052;ABBA01058053;AC004862;AC073182;AC092108;AMYH02016144;BC147016;BC147017;CH236949;CH471091;KF458494;NM_001102386 A8MTJ3;AAI47017;AAI47018;EAL24192;EAL24193;EAW77007;NP_001095856 Hs.335049 GDCA OTTHUMP00000207937;guanine nucleotide-binding protein G(t) subunit alpha-3;gustducin alpha-3 chain protein-coding ENSG00000214415 HGNC:22800 139395 PROVISIONAL 1312271 GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009] 3 3 3 p21 50201873 50207959 + 50229043 50235129 + 50191610 50197696 + 1599006;1580863;1600001;6480464;6893539;6907045;7240710;8554872;8699517 15939031;22074925;8673138 10583385;10878019;11032890;11118617;12107411;12119397;12477932;1302014;15489334;1614872;16641997;16892066;17222360;17584859;18240029;1898771;20360068;20801516;21139048;21890473;21906983;21963094;21987572;22190596;22505724;23000965;23292452;2534964;2748346;2902634;7822269;8208289;8307584;8521505;8889548;8917514 2779 C9JCV8;P11488 ABBA01024553;AC000063;AC002077;AF493908;AMYH02006766;BC095505;BQ637667;BU727496;BU728210;BX953950;CH471055;NG_009831;NM_000172;NM_144499;X15088;X63749 AAB54048;AAH95505;AAM12622;CAA33196;CAB37839;EAW65047;EAW65048;NP_000163;NP_653082;P11488 Hs.517978 1774631;2107171 GNAT1__7521;RH78884 CSNBAD3;GBT1;GNATR OTTHUMP00000210665;OTTHUMP00000210666;guanine nucleotide-binding protein G(T), alpha-1 subunit;guanine nucleotide-binding protein G(t) subunit alpha-1;rod-type transducin alpha subunit;transducin alpha-1 chain;transducin, rod-specific APPROVED protein-coding HGNC:4393 08850 139330;610444 REVIEWED 1319893 GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008] 1 1 1 p13.1 108415188 108425004 - 110145889 110155705 - 109603267 109613083 - 1580863;1599034;6480464;6893539;6907045;7240710;8699517;8554872 12077706;22074925 11118617;12205108;12477932;1302014;1322796;15094710;15489334;15557429;1655754;16892066;1713215;18240029;1905716;1936270;19592100;20125088;20301591;20360068;20603337;21107338;21110914;21139048;21267001;21832049;21890473;21906983;21963094;21987572;22505724;23000965;23362848;23563607;24561123;2534964;2902634;3118369;8112713;8208289;8406495;8521505;9008644 2780 P19087;Q5T697 ABBA01068380;AF493909;AL355310;AMYH02001711;BC000233;BT009844;CH471122;D10384;NG_009099;NM_005272;S70567;U66698;Z18859 AAD14063;AAH00233;AAM12623;AAP88846;ABM83786;ABM87108;BAA01211;CAA79310;EAW56394;EAW56395;NP_005263;P19087 Hs.36973 1694490;1743949;2157383 G42982;GDB:376941;SHGC-75263 ACHM4;GNATC OTTHUMP00000013354;cone-type transducin alpha subunit;guanine nucleotide-binding protein G(t) subunit alpha-2;guanine nucleotide-binding protein G(t), alpha-2 subunit;transducin alpha-2 chain;transducin, cone-specific, alpha polypeptide APPROVED protein-coding ENSG00000134183 HGNC:4394 00762 139340;613856 REVIEWED 731425 GNAQ guanine nucleotide binding protein (G protein), q polypeptide This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010] 9 9 9 q21 50912294 51223287 - 80335189 80646219 - 77716274 78031449 - 737757;1598475;1580863;1642020;1579891;1581847;5131495;6480464;6484113;6907045;8549590;7240710;8554872;8699517 11395409;12890892;14624682;16141358;23759942;9687499;9811897 10446129;10488065;10550060;10598591;10633085;10728414;11076863;11118617;11194358;11253162;11278452;11375483;11408001;11443126;11686331;11753430;11812005;11848441;11875076;11895442;11916537;11955952;11981043;12016230;12130679;12193606;12399457;12477932;12496284;12509430;12626493;12629551;12650852;12652642;12670932;12670961;12704201;12711604;12714438;12726995;12748287;12807915;12885252;1322796;1333286;14561750;14617636;14634662;14702039;15115661;15134434;15251452;15322542;15383626;15466861;15471870;15489336;15611106;15694379;15698833;15735747;15782186;15794946;16038796;16102047;16218966;16381901;16481068;16629901;16650966;16860758;16893886;16995904;17197445;17255364;17307333;17498700;17535809;17552882;17606614;17720980;17846866;17897319;18096806;18240029;18322150;18326504;18424071;18434368;1851174;18514160;18577758;18632858;18672896;18719078;18851832;18936096;18989526;18991294;19056867;19074439;19074441;19078957;19332487;19426503;19445628;19551532;19654573;19718445;19903011;19936769;20007712;20133939;20237586;20379146;20399743;20562673;20590159;20631239;20664004;20714830;20805136;20865267;21056896;21072599;21083380;21139048;21304157;21366456;21464134;21487925;21515378;21592972;21906983;21940795;21945171;21963094;21988832;22056876;22253748;22307269;22701657;22710260;22758774;22905097;22939629;22940628;22977135;23066026;23159116;23315865;23572068;23572156;23599145;23634288;23656586;23665327;23685997;23778528;23884432;24299002;24595385;24816145;24882515;24927141;24970262;2841328;7492305;7629074;7791744;7937899;8188646;8227063;8504751;8552586;8655576;8664309;8825633;8836152;8863838;8923415;8982657;9061052;9152406;9175863;9198220;9238049;9405622;9481484;9488690;9660808;9685625;9700850;9770463 2776 B1AM21;G3V1P7;P50148 AB073896;ABBA01033935;ABBA01033936;ABBA01033937;ABBA01033938;ABBA01033939;ABBA01033940;AF011496;AF329284;AF493896;AJ420425;AK055619;AK298579;AL160268;AL160278;AL355535;AL832747;AMYH02021042;AMYH02021043;BC047048;BC057777;BC067850;BC069520;BC075096;BC075097;CH471089;CV570171;DB474490;FB511250;JN184778;JN184779;JN184780;JN184781;L40629;L76256;NG_027904;NM_002072;U40038;U43083 AAA99950;AAB06875;AAB39498;AAB64301;AAC50363;AAG61117;AAH57777;AAH67850;AAH69520;AAH75096;AAH75097;AAM12610;AEV76928;AEV76929;AEV76930;AEV76931;BAH12817;CAL37720;CAL38271;CAL38639;CAV33030;EAW62605;EAW62606;EAW62607;EAW62608;EAW62609;EAW62610;NP_002063;P50148 Hs.269782;Hs.594695 1337850;1660832;1693720;1726817;1754263;1756217;1763915;1769609;1775570;1787194;1848378;2119898;2128175;2132043;2170008;2175720;5492751 A002Y36;D9S1123;G62798;RH47080;RH68862;RH69769;RH79011;SHGC-132278;SHGC-143088;SHGC-147581;SHGC-53345;SHGC-56723;SHGC-58639;SHGC-85075;STS-AA029953;UniSTS:482300;WI-11656 CMC1;G-ALPHA-q;GAQ;SWS OTTHUMP00000021516;guanine nucleotide-binding protein G(q) subunit alpha;guanine nucleotide-binding protein alpha-q;heterotrimeric guanine nucleotide-binding protein alpha q subunit APPROVED protein-coding ENSG00000156052 HGNC:4390 02998 163000;185300;600998 REVIEWED 733341 GNAZ guanine nucleotide binding protein (G protein), alpha z polypeptide The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008] 22 22 22 q11.22 7227239 7281792 + 23412669 23467224 + 23070483 23125034 + 1300048;1580863;1302584;6480464;6484113;6907045;8554872 10954748 10092682;10593970;10906137;11118617;11313909;11950062;12379657;12414994;12477932;1302014;15326221;15461802;15488169;15489334;16892066;17500595;18029348;18240029;18391951;1902575;1908722;19322201;19946729;20424519;21139048;2115889;2117645;2153964;21832049;21890473;21906983;21963094;23000965;2456569;2902634;3129724;7559455;8208289;8429024;8475115;8521505;8774883;8975005;8986788;9166747;9603210;9647645;9748279 2781 P19086;Q8IY73;Q8N652 ABBA01055101;ABBA01055102;AC000029;AC245054;AF493899;AK126747;AK293653;AK312519;AMYH02038122;BC026342;BC037333;BC078163;BC096828;CH471095;CR456495;D90150;J03260;NM_002073 AAA52580;AAH26342;AAH37333;AAH78163;AAH96828;AAM12613;ABM83312;ABW03313;BAA14180;BAG35418;BAG57104;CAG30381;CAK54523;CAK54822;EAW59559;NP_002064;P19086 Hs.584760 1681526;1744379;1769194;2126355;2170554;2190827 G15854;GDB:452621;GNAZ;RH1696;SHGC-7743;WI-14102 OTTHUMP00000197927;g(x) alpha chain;guanine nucleotide-binding protein G(z) subunit alpha;gz-alpha;transducin alpha APPROVED protein-coding ENSG00000128266 HGNC:4395 00746 139160 REVIEWED 733685 GNB2 guanine nucleotide binding protein (G protein), beta polypeptide 2 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008] 7 7 7 q22 95001927 95007353 + 100271363 100276792 + 100673740 100679169 + 1300048;6480464;6907045 10339615;10409705;10644457;11591653;11675383;12477932;12486123;12512701;12626323;12665801;14499622;14679154;14702039;15489334;15761153;15955845;1602151;16169070;16196087;16341674;16371464;16498633;16502470;16884933;16973746;17185339;17207965;17897319;18255255;19168127;19190083;19199708;19255495;19376773;1946378;19615732;19946888;20360068;20381070;21139048;21182205;21319273;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22178446;22304920;22505724;22917497;23000965;23043599;23326349;23398456;23798571;23862649;24462769;24583282;25027693;2902634;3108879;3114742;7649993;7665596;7782277;8308009;8636150;9238069;9648884;9789084;9799793;9921901 2783 C9JIS1;C9JXA5;C9JZN1;E7EP32;P62879;Q6FHM2 ABBA01013192;AC009488;AF064853;AF501883;AK056750;AK291592;AL535249;AMYH02016387;BC010073;BC012348;BC068003;BM763069;CH471091;CR541729;CV569909;M16514;M16538;M36429;NM_005273 AAA03179;AAA35922;AAA63264;AAH10073;AAH12348;AAH68003;AAM15919;ADQ32731;ADZ15861;BAF84281;BAG51803;CAG46530;EAW76499;EAW76500;EAW76501;NP_005264;P62879 Hs.185172 1681438;1690582;1848448;5015990 Gnb2;RH67875;RH76198;RH79834 G protein, beta-2 subunit;OTTHUMP00000174595;OTTHUMP00000174601;OTTHUMP00000174602;OTTHUMP00000174603;OTTHUMP00000174604;OTTHUMP00000174605;OTTHUMP00000211369;OTTHUMP00000211370;g protein subunit beta-2;guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2;guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2;signal-transducing guanine nucleotide-binding regulatory protein beta subunit;transducin beta chain 2 APPROVED protein-coding ENSG00000172354 HGNC:4398 11820 139390 REVIEWED 732785 GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 1 1 1 p36.33 824442 878396 + 1716725 1822552 - 1785285 1891117 - 1300048;6480464;6893539;6484113;6907045 22074925 10339615;10518015;10570481;10644457;10744734;10819326;11196645;11294873;11698416;12202484;12359736;12399457;12477932;12486122;12486123;12507995;12512701;12527722;12606627;12626323;12743112;12782285;12887923;14512443;14662753;14702039;15105422;15331550;1543505;15489334;15611108;15782186;15889144;15953418;15955845;16027165;16099817;16102047;16221676;16225846;16368546;16371464;16418336;16498633;16782902;16884933;16892066;17043677;17110384;17167406;17215244;17356515;17492941;17500595;17548351;17897319;18045877;18240029;18577758;18596232;18729826;19056867;19110265;19168127;19255495;19322201;19376773;19727342;19738201;1979057;19917775;20007712;20048162;20181083;20360068;20381070;21139048;21182205;21674799;21679469;21890473;21906983;21963094;21987572;21988832;22053931;22065575;22186894;22505724;22939629;23000965;23166591;23171003;23326349;23398456;23603342;23625927;23798571;23868983;23874603;23954591;24462769;24816145;25015289;25027693;3095147;7624799;7649993;7665596;7829508;7972043;8208289;8290554;8308009;8521505;8552196;8619474;8636150;8717044;8889548;8982657;9009193;9108307;9110174;9152406;9238069;9789084 2782 B1AKQ8;B3KVK2;F6UT28;F6X3N5;P62873 ABBA01016071;ABBA01016072;ABBA01016073;ABBA01016074;ABBA01016075;ABBA01016076;AF070597;AF070603;AF501882;AI092255;AK096614;AK122949;AK312614;AL031282;AL109917;AMYH02000109;AMYH02000110;AMYH02000111;BC004186;BC005888;BC008991;BC114618;BC127205;BQ881467;BT007305;BU153593;BU684444;BU902364;CH471183;CR456784;KF495846;M36430;NM_001282538;NM_001282539;NM_002074;X04526 AAA63265;AAC28652;AAC28655;AAH04186;AAH05888;AAH08991;AAI14619;AAM15918;AAP35969;BAG35501;BAG53814;CAA28207;CAG33065;EAW56147;EAW56148;EAW56149;EAW56150;NP_001269467;NP_001269468;NP_002065;P62873 Hs.430425;Hs.721030 1795934;1848253;2154208;2161483;2162129;2166294;2181949;5492160 D14S930;GNB1_444;PMC197251P1;RH64187;RH78938;SHGC-74079;SHGC-74103;SHGC-74116 G protein, beta-1 subunit;OTTHUMP00000001107;beta subunit, signal-transducing proteins GS/GI;guanine nucleotide binding protein, beta 1;guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 1;guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1;transducin beta chain 1 APPROVED protein-coding ENSG00000078369 HGNC:4396 00766 139380 REVIEWED 1348614 GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008] 3 3 3 q26.33 177544885 177600385 - 179113876 179169371 - 179396088 179451583 - 1580863;6480464;6907045;8699517;7240710;8554872 10339615;10409705;10570481;10644457;11294873;11842130;12454992;12477932;12486123;12512701;12626323;12782285;14702039;15489334;16371464;16884933;17207965;17215244;17897319;18815590;19376773;19414374;20301532;20360068;21139048;21182205;21853274;21963094;21987572;22053931;22261722;22268729;23000965;23398456;23434117;23583979;23602568;23798571;24816145;25027693;8636150;8888689 59345 C9JD14;H7C5J5;Q9HAV0 ABBA01058536;ABBA01058537;AC007620;AF300648;AK001890;AK022599;AK091332;AK290571;AK297174;AK310009;AMYH02008225;AX877760;BC000873;CH471052;HG496359;NG_033163;NM_021629;XM_005247692;XM_006713721 AAG18442;AAH00873;ADQ32360;BAF83260;BAG50987;BAG59667;CAE89866;EAW78403;EAW78404;NP_067642;Q9HAV0;XP_005247749;XP_006713784 Hs.173030 1644976;1645583;1647835;1663616;1680791;1686082;1693562;1698714;2139828;2187343;5016478;5022578;5022651;5024756;5093270;5117897 A009K31;D11S2921;D1S1423;G32620;GDB:434012;GDB:631813;RH102917;RH48978;RH80030;RH80931;RH99053;SHGC-56395;SHGC-58470;STS-N54845;STS-R33145;WI-16393 CMTD1F;RP11-145M9.4 G protein beta-4 subunit;OTTHUMP00000165227;OTTHUMP00000212176;guanine nucleotide binding protein beta subunit 4;guanine nucleotide-binding protein subunit beta-4;transducin beta chain 4 APPROVED protein-coding HGNC:20731 09973 610863;615185 REVIEWED 736916 GNAS GNAS complex locus This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012] 20 20 20 q13.3 54155257 54226691 + 57414756 57486250 + 58839740 58911195 + 1580401;1580402;1580403;1580404;1580405;1580406;1580407;1331525;704404;1601377;1601379;1601375;1601376;1601378;1625210;2315004;2312654;2313211;2312469;1579891;2312656;2317256;4140391;5147387;5144213;6480464;6907045;7240710;8554872;8699517 11910300;12119276;12215464;12771991;14624682;15070926;15118671;15181091;15297467;15579502;15687107;15711092;16484629;17010343;17020971;17101633;17356712;18431594;18948702;18971210;19110970;20852827;2122458;2549426 10190480;10200251;10487696;10493819;10521440;10571700;10598591;10729789;10749992;10931851;11095461;11241472;11256614;11294873;11297617;11447126;11450852;11583302;11583900;11600515;11600516;11729322;11779226;11780052;11784876;11812005;11836449;11895442;11916537;11926205;11968001;12024004;12030931;12036966;12106601;12116190;12147228;12199346;12364467;12374764;12391161;12477932;12488443;12605446;12619926;12621129;12624854;12626323;12652642;12656668;12665801;12672054;12719376;12748287;12749029;12756386;12858292;12862199;12970263;12970307;12970318;13678786;14500986;14561710;14694347;14702039;14991457;15053924;1505964;15112914;15126527;15147378;15148396;15234971;15242332;15361543;15368366;15479166;15489334;15531240;15537666;15564881;15592469;15701569;15782186;15824158;15840729;15894831;1594625;16004878;16033819;16081638;16110341;16114876;16196087;16210433;16315032;16344560;16352729;16406317;16442859;16460020;16467086;16484323;16575178;16789620;16789627;16789628;16789629;16789633;16876683;17008315;17045734;17062894;17161328;1716359;17164301;17186357;17207965;17353931;17388805;17427647;17514647;17566083;17594522;17595244;17623298;17652219;17672918;1769666;17803690;17937059;17962410;17982384;17982386;17991745;18006055;18038328;18070145;18075835;18181202;18182455;18184921;18192900;18240029;18258741;18347176;18354007;18362425;18367996;18451148;18553568;18597624;18634020;18642089;18694911;18697996;18700313;18755267;18781797;18806481;18812479;18948082;18951142;19029774;19029852;19073398;1908089;19136681;19169048;19189654;19237173;19243996;19274060;19287459;19351817;19381065;19381884;19412439;19429701;1944469;19449667;19494712;19513951;19542315;19550078;19575869;19593725;19826830;19856255;19858129;19874199;19913121;19942373;19948975;20008020;20015054;20023040;20027678;20061437;20119640;20133939;20150876;20195357;20201926;20203101;20336923;20346714;20360068;20398730;20427508;20443919;20459687;20468064;20531296;20537689;20565774;20628086;20639865;20689139;20803660;20804925;20862257;20887824;20972248;20972266;20979189;2109828;21110914;21139048;21156401;21169072;21184583;21186955;21308712;21340746;21351142;21387769;21488135;21521295;21523828;21554434;21584660;21622536;21664251;21677417;21710407;21726808;21737952;21773967;21775669;21835143;21836370;21890473;21890629;21906983;21909110;21909115;21910239;21924916;21963094;21987572;21988832;22053931;22200434;22245114;22259056;22277900;22355676;22367301;22371153;22374786;22378814;22492776;22495359;22505724;22511293;22564667;22593505;22679513;22720333;22797727;22797925;22833384;22859495;22875848;22931242;22939629;22954004;23000965;23065660;23095209;23201296;23208952;23281139;23284784;23288882;23288949;23335286;23337932;23346880;23370769;23403822;23412865;23498145;23503642;23532108;23533243;23725790;23752180;23753411;23796510;23798571;23844573;23846778;23859711;23884777;23962387;24061513;24076664;24107509;24145653;24268734;24312577;24423294;24470207;24498230;24525507;24525511;24755784;24795070;24816145;24925222;3018580;3024154;3093273;3127824;3131741;7523385;7737262;7739708;7751320;7797570;7815417;7997272;8011597;8037842;8072545;8125298;8126161;8388883;8552586;8621513;8663226;8702665;8766942;9111083;9159128;9228084;9267696;9268375;9328353;9417641;9506752;9525885;9626141;9647645;9707596;9727013;9794454;9860993;9876352;9914489 2778 A2A2R6;A2A2S1;H0Y7E8;H0Y7F4;H0Y7Z6;O95467;P63092;P84996;Q5JWD1;Q5JWE9;Q5JWF2;S4R3E3;S4R3V9;X6R7U9 ABBA01005968;ABBA01005969;AF064092;AF088184;AF088185;AF105253;AF107846;AF493897;AF493898;AJ009849;AJ224867;AJ224868;AJ251760;AK026564;AK054862;AK093534;AK122771;AK225818;AK314549;AK315860;AK315874;AL109840;AL121917;AL132655;AMYH02037373;AMYH02037374;AMYH02037375;AMYH02037376;AY898804;BC002722;BC008855;BC022875;BC036081;BC066923;BC089157;BC104928;BC108315;BT009905;CA335150;CH471077;CX869731;DB037677;KF456967;M14631;M21139;M21142;M77026;NG_016194;NM_000516;NM_001077488;NM_001077489;NM_001077490;NM_016592;NM_080425;NM_080426;NR_003259;U12466;X04408;X04409;X07036;X56009;XM_005260401;XM_005260402;XM_006723781;XM_006723782 AAA52583;AAA53146;AAA53147;AAA53148;AAA53149;AAB60334;AAC16860;AAC34896;AAC34897;AAD11804;AAF63226;AAH02722;AAH08855;AAH22875;AAH66923;AAH89157;AAI04929;AAI08316;AAM12611;AAM12612;AAP88907;AAX51890;ACE86834;ACE87520;ADQ32746;BAF98751;BAF98765;BAG37135;CAA08889;CAA12164;CAA12165;CAA27996;CAA27997;CAA30084;CAA39484;CAB83214;CAB83215;EAW75457;EAW75458;EAW75459;EAW75460;EAW75461;EAW75462;EAW75463;EAW75464;EAW75465;EAW75466;EAW75467;EAW75468;EAW75469;EAW75470;EAW75471;NP_000507;NP_001070956;NP_001070957;NP_001070958;NP_057676;NP_536350;NP_536351;O95467;P63092;P84996;Q5JWF2;XP_005260458;XP_005260459;XP_006723844;XP_006723845 Hs.125898 1650419;1669890;1677658;1677967;1683731;1741333;1742765;1744155;1778047;1790307;1793002;1793446;1793858;1793860;1851513;2128091;2130588;2134019;2135961;2150140;2161891;2191717;2217372;5014023;5109611;5494149 D13S1553;D20S459;D20S541E;GDB:180724;GDB:203981;GDB:393268;GNAS1;GNAS_3080;Gnas;MARC_5561-5562:1031675650:1;PMC182207P1;PMC22380P2;PMC301417P1;PMC301417P2;RH11717;RH47664;RH68035;RH75699;RH93711;RH98861;SHGC-58255;SHGC-59923;SHGC-60147;STS-M21142;WI-11711;WI-18315 ALEX;AHO;C20orf45;GNAS1;GPSA;GSA;GSP;MGC33735;NESP;NESP55;PHP1A;PHP1B;PHP1C;POH;dJ309F20.1.1;dJ806M20.3.3 OTTHUMP00000031727;OTTHUMP00000031735;OTTHUMP00000031740;OTTHUMP00000031742;OTTHUMP00000031743;OTTHUMP00000031756;OTTHUMP00000174399;OTTHUMP00000174400;OTTHUMP00000196026;OTTHUMP00000196027;OTTHUMP00000196028;OTTHUMP00000196029;OTTHUMP00000196030;adenylate cyclase-stimulating G alpha protein;alternative gene product encoded by XL-exon;extra large alphas protein;guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1;guanine nucleotide regulatory protein;guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas;neuroendocrine secretory protein;secretogranin VI 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;1643376;1643383;1643385;1643396;2289429;2289431 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;BW305_H;BW306_H;BW311_H;BW312_H APPROVED protein-coding ENSG00000087460 HGNC:4392 00761 102200;103580;139320;166350;219080;603233;612462;612463 REVIEWED 1322292 GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 3628001 3694531 - 19775932 19842462 - 19788411 19854939 - 1580863;6480464 10591208;11072084;11258795;11350118;12477932;15268862;15461802;15489334;18003636;18755269;19011233;20538345;20860462;21139048;21906983;21963094;24250222 54584 C9JPQ6;Q9BYB4 AB049212;AB051432;ABBA01005404;AC000076;AC000089;AF238328;AF301895;AMYH02038051;AY007378;BC012060;BF510806;CA425124;CH471176;CR456496;KF457361;NM_053004 AAG12162;AAG36826;AAG53933;AAH12060;ACE87000;ACE87689;BAB33315;BAB68408;CAG30382;CAK54524;CAK54823;EAX03020;NP_443730;Q9BYB4 Hs.105642 1656234;1671460;1699616;1774071;2129696;2154583;2159289;5014039 D22S1266;D22S1584;RH103410;RH46328;SHGC-56622;STS-AA041293;STS-T79756;WI-15274 DGCRK3;FKSG1;GY2;KIAA1645;WDR14;WDVCF G-protein beta subunit-like protein;OTTHUMP00000028644;OTTHUMP00000196854;OTTHUMP00000196856;WD repeat-containing protein 14;WD40 repeat-containing protein deleted in VCFS;g protein subunit beta-like protein 1;guanine nucleotide binding protein beta-subunit-like polypeptide;guanine nucleotide-binding protein subunit beta-like protein 1 APPROVED protein-coding HGNC:4397 13591 610778 VALIDATED 733289 GNB2L1 guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 ENCODES a protein that exhibits cysteine-type endopeptidase activator activity involved in apoptotic process; enzyme binding; poly(A) RNA binding; INVOLVED IN activation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of cell growth; negative regulation of gene expression; PARTICIPATES IN insulin-like growth factor signaling pathway; syndecan signaling pathway; tumor necrosis factor mediated signaling pathway; FOUND IN cytoplasm; cytosol; extracellular vesicular exosome; INTERACTS WITH arsenite(3-); carbamazepine; cobalt dichloride 5 5 5 q35.3 176291782 176298759 - 180663928 180671209 - 181236928 181243906 - 68785;5131491;6480464;6483358;6484113;6907045 18491053;19364912;8302854 10329691;10480917;10490850;10708423;10820259;10849009;11046044;11076863;11256614;11278757;11279199;11301323;11312657;11350068;11516626;11709417;11733189;11801604;11824616;11884618;11934885;11943848;11956211;11964397;12193273;12359736;12388589;12391233;12400005;12435334;12477932;12521306;12524444;12692135;12761493;12809483;12884273;12958311;12960323;1326322;14559993;14654845;14699138;14702039;14724252;14963031;14966116;15159402;15166316;15202772;15252133;15254245;15467455;15489334;15489336;15548575;15577927;15592455;15596539;15611085;15952740;15955845;16009940;1602151;16061178;16169070;16189514;16196087;16212959;16236267;16381901;16382134;16449650;16455055;16689683;16702786;16705158;16757810;16849317;16920332;16997272;17072338;17108144;17110338;17166942;17201176;17244529;17269730;17361105;17361185;17409124;17500595;17515463;17558393;17574549;17718421;17875644;17875659;17900862;17936896;17965024;18057008;18088317;18172692;18420585;18442364;18557705;18567578;18596232;18621736;18624398;18755685;18781797;18954305;19000751;19010305;19056867;19251694;19372219;19423701;19451233;19454010;19616115;19738201;19767770;19785988;19855191;19892429;19917775;19946739;19966859;20020495;20020773;20099848;20103773;20360068;20410295;20499158;20529362;20639865;20689807;20697360;20736409;20819076;20858845;20871634;20874815;20875397;20976005;21139048;21145461;21146485;21212275;21282530;21319273;21347310;21525958;21685945;21738584;21756811;21848913;21860413;21890473;21900206;21906983;21935400;21963094;21987572;21988832;22007921;22053931;22065575;22069327;22174317;22174419;22207523;22240482;22246531;22262830;22268729;22289149;22314363;22334666;22365833;22378065;22505724;22538239;22547057;22558273;22586326;22592183;22653060;22659028;22797925;22863883;22869111;22903704;22939629;22990118;23000965;23077236;23125841;23151878;23173782;23246001;23313748;23455324;23463506;23608534;23636454;23651062;23722539;23798571;23893384;23905995;23912224;24000012;24005669;24008630;24457600;24561123;24681954;24825905;2499885;25015289;25027693;7782277;7821789;8125298;8290562;9442085;9584165;9765275;9876970 10399 D6R909;D6R9L0;D6R9Z1;D6RAC2;D6RAU2;D6RBD0;D6RDI0;D6REE5;D6RF23;D6RFX4;D6RFZ9;D6RGK8;D6RHH4;D6RHJ5;E9KL35;E9PD14;H0Y8R5;H0Y8W2;H0Y9P0;H0YAF8;H0YAM7;J3KPE3;P63244 ABBA01010097;AC008443;AK095666;AK222488;AK301029;AK301468;AK303316;AK310916;AMYH02012918;AY336089;BC000214;BC000366;BC010119;BC014256;BC014582;BC014788;BC017287;BC019093;BC019362;BC021993;BC029996;BC032006;BC035460;CH471165;CR456978;CR541909;D28398;GU727632;JN104586;KC877161;M24194;NM_006098 AAA59626;AAH00214;AAH00366;AAH10119;AAH14256;AAH14788;AAH17287;AAH19093;AAH19362;AAH21993;AAH32006;AAR24619;ABM82348;ABM85522;ADU87634;AFK13122;BAA05764;BAD96208;BAG53102;BAG62644;BAG62988;BAG64385;CAG33259;CAG46707;CAL38537;EAW53692;EAW53693;EAW53694;EAW53695;EAW53696;EAW53697;EAW53698;EAW53699;EAW53700;EAW53701;EAW53702;NP_006089;P63244 Hs.5662 1735428;1777284;2134091;2178366;5014019;5014051;5019761;5022200;5037552;5096317;5109281;5491780 10STS02;A009P44;D1S1425;D5S1561E;D5S2354;D8S2278;D8S2279;G32754;L18426;RH17921;SGC34615;WI-12627 Gnb2-rs1;H12.3;HLC-7;PIG21;RACK1 OTTHUMP00000223704;OTTHUMP00000223870;OTTHUMP00000223891;OTTHUMP00000223893;OTTHUMP00000223900;OTTHUMP00000223901;OTTHUMP00000223902;OTTHUMP00000223930;OTTHUMP00000223931;Receptor for Activated C Kinase 1;cell proliferation-inducing gene 21 protein;guanine nucleotide binding protein beta polypeptide 2-like 1;guanine nucleotide-binding protein subunit beta-2-like 1;guanine nucleotide-binding protein subunit beta-like protein 12.3;human lung cancer oncogene 7 protein;lung cancer oncogene 7;proliferation-inducing gene 21;protein homologous to chicken B complex protein, guanine nucleotide binding;receptor of activated protein kinase C 1 protein-coding ENSG00000204628 HGNC:4399 01503 176981 VALIDATED 735931 GNG11 guanine nucleotide binding protein (G protein), gamma 11 This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008] 7 7 7 q21 88249318 88254128 + 93551016 93555826 + 93921704 93926514 + 1302231;1300048;6480464;6907045 7665596 10644457;12477932;12486123;12626323;12690205;12782285;12853948;15489334;15761153;15914563;16169070;16189514;17092487;19168127;23583979;9847074 2791 P61952;Q53Y01 ABBA01045786;AC002076;AF493878;AK312037;AMYH02016285;BC009709;BG255463;BT007141;CH236949;CH471091;NM_004126;U31384 AAC50206;AAH09709;AAM12592;AAP35805;AAS02020;ABM82353;ABM85528;BAG34974;EAL24138;EAW76804;NP_004117;P61952 Hs.83381 1695044;1696872;2145544;2157440 G44752;G49181;RH18031;RH79142 GNGT11 G protein gamma-11 subunit;OTTHUMP00000162594;guanine nucleotide binding protein gamma subunit 11;guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 APPROVED protein-coding HGNC:4403 11979 604390 REVIEWED 1606839 GNG10 guanine nucleotide binding protein (G protein), gamma 10 ENCODES a protein that exhibits GTPase activity (inferred); signal transducer activity (inferred); INVOLVED IN cellular response to glucagon stimulus (inferred); energy reserve metabolic process (inferred); G-protein coupled receptor signaling pathway (inferred); PARTICIPATES IN glutamate signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH (S)-nicotine; cobalt dichloride; copper(2+) sulfate 9 9 9 q31.3 84922924 84931584 + 114423851 114432526 + 111661571 111670246 + 6480464;6907045 12477932;12626323;12782285;15164053;15489334;17185339;17207965;19168127;19376773;20424519;22940628;7665596 2790 P50151 ABBA01042726;AF493877;AL135787;AMYH02021478;AW583403;BC010384;BC015206;BC016319;BC072671;BC107574;BG708408;CH471105;DB504443;NM_001017998;NM_001198664;U31383 AAC50205;AAH10384;AAH16319;AAH72671;AAI07575;AAM12591;ADQ32430;EAW59079;EAW59080;EAW59083;EAW59087;NP_001017998;NP_001185593;P50151 Hs.534196;Hs.732002 1678519;1777999;2172931;2179316;5019637 A002R12;G32289;RH12061;RH66959;WI-17453 OTTHUMP00000021914;guanine nucleotide binding protein 10;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 protein-coding ENSG00000242616 HGNC:4402 604389 VALIDATED 6769446 GNG12-AS1 GNG12 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 1 1 1 p31.3 66588675 66959303 + 68297917 68668670 + 67832288 68202987 + 8554872 16344560;19801982;22504420;23648065;23871723;24249740 100289178 ABBA01074511;ABBA01074512;ABBA01074513;ABBA01074514;AK124028;AL157407;AL391703;AL513284;AMYH02001208;AMYH02001209;AMYH02001210;AMYH02001211;AMYH02001212;DB291468;HG492147;HG492148;KF454954;KF454956;KF454957;NR_040077 BAC85755 Hs.677603 1649182;1652881;1682229;1688761;1693170;1708304;1712799;1717563;1722449;1777411;2133696;2137234;2146116;2146991;2146993;2148825;2149022;2181494;2185904 A004O04;A006C26;A006M39;AL034314;D1S1583;D1S3040;G09848;G16188;G20702;G60301;HSC2OB072;RH120114;RH122086;RH28305;RH64518;RH68355;RH92980;SHGC-57898;SHGC-79685 RP11-518D3.1 APPROVED ncrna ENSG00000232284 HGNC:43938 615406 VALIDATED 732554 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 36148023 36210614 - 36214438 36277053 - 36214441 36277056 - 68786;704404;1580863;1300048;6480464;6907045;7240710;8554872;8699517 9305888 10330343;10334995;10356312;10431835;11326336;11528398;11749051;11916006;12177386;12325084;12409274;12473753;12473769;12473780;12477932;12497639;12612874;12743242;12811782;12913203;12921793;12927803;14707127;14972325;15136692;15146476;15164053;15342556;15489334;15670773;15748884;15833430;15987957;16810679;16847058;17118363;17597614;17698786;17704511;17718674;18029348;18373408;18560563;18653764;18698493;18815882;19322201;19841673;19845164;19917666;20059379;20175955;20300792;20301343;20301439;20346669;21131200;21139048;21584309;21708040;21868336;21906983;21910480;21963094;22049060;22196754;22231866;22343627;22349865;22507750;22863883;22883483;23000965;23238814;23437777;23549799;24005727;24027297;2443758;24654937;24816145;25027693;2808337;8439453;8789455;8889548;9305887 10020 Q9Y223 ABBA01050431;ABBA01050432;ABBA01050433;AF051852;AF155663;AF317635;AJ238764;AK295562;AK296687;AK312539;AL158830;AL701451;AM697708;AM697709;AMYH02019472;AMYH02019473;AY531126;AY531127;AY531128;BC121179;BF197948;BM996750;BM999446;BP201585;BQ217959;CA503236;CH471071;DC416534;DC418354;EU093084;NG_008246;NM_001128227;NM_001190383;NM_001190384;NM_001190388;NM_005476;XM_005251334 AAD32251;AAD38197;AAG31661;AAI21180;AAS59257;AAS59258;AAS59259;ABU55403;BAG35438;BAH12108;BAH12414;CAB42607;CAM91424;CAM91425;EAW58307;EAW58308;EAW58309;NP_001121699;NP_001177312;NP_001177313;NP_001177317;NP_005467;Q9Y223;XP_005251391 Hs.5920 1298107;1340483;1675977;1687754;1752129;1772396;2159181;2159809;2173321;2183756;5014003;5015619;5015861;5015869;5016596;5020946;5020948;5021872;5022578;5024413;5037552;5109281;7185938 D10S16;D11S3114;D17S1136;D19S1166;D1S1423;D1S1425;D8S2279;D9S1794;G35510;GDB:313261;GDB:631802;L17877;L17971;RH66165;RH99177;SHGC-106091;SHGC-32868;SHGC-36161;SHGC-56681;SHGC-7278;STS-D25668;sY3084 DMRV;GLCNE;IBM2;NM;Uae1 N-acylmannosamine kinase;OTTHUMP00000021370;OTTHUMP00000239695;OTTHUMP00000239704;OTTHUMP00000239705;OTTHUMP00000239706;UDP-GlcNAc-2-epimerase/ManAc kinase;UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase;UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase;bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase APPROVED protein-coding ENSG00000159921 HGNC:23657 04825 269921;600737;603824;605820 REVIEWED 8179709 GNG10P1 guanine nucleotide binding protein (G protein), gamma 10 pseudogene 1 10 10 q 127647443 127649038 - 125958874 125960469 - 100526656 ABBA01034174;AC063963;AMYH02023998;NG_027859 pseudo HGNC:49502 INFERRED 1350428 GNG3 guanine nucleotide binding protein (G protein), gamma 3 Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The protein encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012] 11 11 11 p11 59803471 59805035 + 62475066 62476678 + 62706687 62709206 + 6480464;6907045 10075696;10644457;10819326;11294873;12477932;12486123;12606627;12626323;12782285;15078334;15314181;15489334;16344560;17185339;19168127;19376773;20534534;22082156;23326349;7822269;8550614;8636150;9003074 2785 P63215 ABBA01003240;AF075042;AF087900;AF092129;AF188177;AF493871;AK311933;AMYH02024897;AP001458;BC015563;CH471076;CK004020;DA123305;NG_008461;NM_012202;XM_006718500;XM_006718501 AAD40371;AAF04567;AAH15563;AAM12585;AAP97199;ABM82816;ABM86002;BAG34874;EAW74082;NP_036334;P63215;XP_006718563;XP_006718564 Hs.179915;Hs.740581 2139350;5106097 Gng3;RH12537 NBP gamma-3;OTTHUMP00000236158;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3;guanine nucleotide-binding protein gamma-3 subunit APPROVED protein-coding ENSG00000162188 HGNC:4405 12337 608941 REVIEWED 1346162 GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014] 12 12 12 p13 8566659 8573841 + 6949375 6956564 + 6840211 6847400 + 1580408;1580410;1580411;1580409;1358639;1580863;2313204;2313206;2313205;6480464;6893539;6907045;7240710 10526907;11230982;11725157;12624279;12634518;16908025;17161225;18656447;22074925 10339615;10513993;10644457;10904009;11116112;11230366;11244012;11283377;11322658;11434508;11439289;11447495;11520049;11586049;11688759;11748488;11768721;11770079;11775125;11816511;11910300;11927836;11930987;11978662;11985260;11992559;12000471;12011775;12052841;12075862;12082592;12109775;12113397;12149126;12154107;12165748;12172218;12270649;12384823;12409514;12424427;12431187;12446192;12454992;12460053;12476328;12477932;12486123;12511541;12512701;12566975;12576843;12595577;12618278;12624609;12626323;12650956;12654703;12658019;12668921;12697327;12724620;12730030;12756405;12818251;12825146;12844135;12891286;12893983;12930636;12947562;13679998;14512207;14557282;14586390;14604448;14647404;14692527;14742836;14744475;15019160;15033462;15037876;15042113;15055253;15057736;15076154;15090636;15138483;15179018;15200440;15212839;15226674;15287194;15332573;15337465;15369653;15389246;15489334;15531240;15536455;15614196;15678704;15761153;15824464;15831363;15855877;15920455;15961981;15978856;15996174;16002097;16015130;16019105;16110247;16133558;16139102;16139171;16141801;16178055;16276364;16284746;16302021;16314202;16314886;16354603;16424860;16443564;16449941;16450155;16464220;16487269;16493638;16497648;16513451;16569552;16600156;16600389;16615274;16707857;16710319;16713434;16736244;16762621;16783490;16867916;16871746;16884933;16897596;16938762;16961612;17036337;17044850;17044851;17066084;17066254;17136758;17185339;17189961;17278960;17299380;17299381;17330058;17341998;17361120;17460549;17521439;17544870;17559964;17564628;17584726;17621167;17701674;17717746;17726725;17825147;17943025;17958314;17971028;17972053;17978878;18029348;18058092;18071056;18192837;18215653;18242170;18248681;18308786;18325076;18325652;18331431;18413224;18413308;18426866;18439224;18493717;18511740;18513389;18551043;18551105;18660489;18698227;18725220;18783529;18793692;18849222;18855531;18990763;19056482;19065529;19086053;19103106;19131662;19139061;19141860;19145770;19148102;19155782;19168127;19174793;19193342;19238444;19242491;19243996;19247266;19254215;19255495;19263529;19301222;19303909;19309415;19328558;19376773;19420911;19437226;19456220;19479237;19491387;19559392;19560507;19574959;19578796;19597293;19620885;19687782;19772422;19779330;19779464;1979057;19811352;19876010;19885780;19913121;19948975;19956635;19968497;20096003;20102604;20129829;20144152;20145952;20170352;20185488;20204402;20213484;20235788;20337945;20351714;20359253;20416077;20452482;20459474;20473689;20488209;20536507;20537417;20538960;20539277;20570668;20577119;20577224;20588308;20602615;20628086;20629643;20652353;20660057;20673868;20691427;20733583;20734064;20814328;20826553;20833658;20860462;20877298;20944660;20952631;20959405;21034538;2107550;21110287;21174581;21198262;21210858;21215181;21364877;21371559;21473734;21532295;21559741;21675276;21697133;21709600;21735268;21902766;21979884;22034052;22082654;22214232;22258330;22437554;22476228;22505724;22534794;22580528;22608746;22714918;22882749;22940628;22985949;23061407;23505911;23595158;23667878;23691120;23799054;23980137;24376503;24462769;24557575;24882179;24901079;25015289;7822269;8550614;8636150;8723724;9074930;9425898;9789084 2784 E9PCP0;F1T0G5;F5GZN8;F5H0S8;F5H100;F5H8J8;P16520 A93384;AB209283;AB593098;AB593099;ABBA01017662;AF501884;AF519545;AK313091;AMYH02025956;AU143349;AY631872;BC000115;BC002454;BC015920;BT009800;CH471116;M31328;NG_009100;NM_001297571;NM_002075;U47924;U47930;U47931;XM_005253680;Y12050;Y12058;Y14140 AAA52582;AAB51313;AAC50468;AAH00115;AAH02454;AAH15920;AAM15920;AAN77120;AAP88802;AAT38116;ABM82885;ABM86075;BAD92520;BAJ84038;BAJ84039;CAA72779;CAB69546;EAW88730;NP_001284500;NP_002066;P16520;XP_005253737 Hs.631657 1685087;2142003;2152467;2219898 LEPREL2__6387;RH76209;STS-H92898;STS-U47926 G protein, beta-3 subunit;GTP-binding regulatory protein beta-3 chain;OTTHUMP00000238902;OTTHUMP00000238903;OTTHUMP00000238904;OTTHUMP00000238905;OTTHUMP00000238907;guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3;guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3;hypertension associated protein;transducin beta chain 3 APPROVED protein-coding ENSG00000111664 HGNC:4400 00743 139130;145500 REVIEWED 1346549 GNG5P1 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 1 6 6 6 q27 167393034 167393645 - 166653416 166654027 - 166239928 166240539 - 728411 1549114 2789 ABBA01015075;AL121956;AMYH02014963;NG_006561 GNG5P APPROVED pseudo HGNC:4409 INFERRED 1626539 GNG5P2 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 2 INTERACTS WITH ammonium chloride (ortholog); dibutyl phthalate (ortholog); ethanol (ortholog) X X X q23 110069307 110069825 - 109589683 109590201 - 110346455 110346973 - 6480464 10819326;15772651 347687 ABBA01043410;AF188178;AL031319;AMYH02040231;NG_002699;NG_016469 AAF04568 GNG5ps;dJ364I1.1 pseudo HGNC:24826 INFERRED 1319444 GNG12 guanine nucleotide binding protein (G protein), gamma 12 ENCODES a protein that exhibits PDZ domain binding; INVOLVED IN cellular response to glucagon stimulus (inferred); cerebral cortex development (inferred); energy reserve metabolic process (inferred); PARTICIPATES IN glutamate signaling pathway; mitogen activated protein kinase signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; cobalt dichloride; cyclophosphamide 1 1 1 p31.3 66458012 66589844 - 68167149 68299436 - 67701466 67833472 - 1580863;6480464;6907045;8554872 10409705;10819326;10931946;11714923;12477932;12486123;12626323;12782285;14702039;15078334;15342556;15489334;17081983;17185339;19056867;19168127;19376773;20360068;21139048;21890473;21906983;21963094;21988832;22939629;22940628;23000965;23326349;23398456;23798571;7493986;8125298;9003074 55970 Q9UBI6 ABBA01074514;ABBA01074515;AF119663;AF123766;AF188181;AF365871;AF493879;AK055914;AK092014;AK223000;AK293101;AL049367;AL136120;AL391703;AL499611;AL832431;AMYH02001208;BC005940;BC013090;BP236225;BP236699;BU151184;BU620098;CH471059;FB775498;KF454955;NM_018841 AAF04571;AAF17220;AAH05940;AAK53385;AAM12593;AAP97245;ADZ15663;BAD96720;BAF85790;CAH10645;CAV30706;EAX06484;EAX06485;EAX06486;NP_061329;Q9UBI6 Hs.431101 1335758;1340588;1657610;1663458;1666095;1678799;1721121;2149132;2170575;2172019;2187341 A002V40;AL009458;D1S2178;D1S2829;D1S368;G30943;G59545;RH68344;RH70081;RH94150;SHGC-34409 FLJ31352;FLJ34695 G-protein gamma-12 subunit;OTTHUMP00000011139;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 protein-coding ENSG00000172380 HGNC:19663 13592 615405 VALIDATED 1353997 GNG4 guanine nucleotide binding protein (G protein), gamma 4 ENCODES a protein that exhibits signal transducer activity (inferred); INVOLVED IN negative regulation of cell growth; PARTICIPATES IN glutamate signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 1 1 1 q42.3 208954277 209057391 - 235710985 235814054 - 235547685 235650754 - 1302231;1580863;6480464;6907045 7665596 10644457;12477932;12486123;12626323;12782285;14702039;15489334;15824735;16344560;16884933;17185339;17903295;19168127;19376773;7782277;8636150 2786 B1APZ0;P50150 ABBA01033139;ABBA01033140;ABBA01033141;ABBA01033142;AF493872;AK074383;AK311781;AL390765;AL583844;AL832564;AMYH02002947;AMYH02002948;AMYH02002949;AMYH02002950;BC022485;CH471098;CX784976;DA122711;DA230013;DB501745;FO393422;HI573886;HI573888;HI573890;NM_001098721;NM_001098722;NM_004485;U31382;XM_006711761;XM_006711762 AAC50204;AAH22485;AAM12586;BAG34724;CBX47432;CBX47433;CBX47434;EAW70030;EAW70031;NP_001092191;NP_001092192;NP_004476;P50150;XP_006711824;XP_006711825 Hs.159711 1692480;1692602;1714553;1763107;2114841;2145786;5015861;5015961;5022322;5024756;5037552;7185938 AL033891;AL033937;D10S16;D11S2560;D15S1477;D8S2279;RH119790;RH46940;RH80030;SHGC-146840;SHGC-35584 DKFZp547K1018;FLJ23803;FLJ34187 OTTHUMP00000038436;OTTHUMP00000038437;guanine nucleotide binding protein 4;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 protein-coding ENSG00000168243 HGNC:4407 11978 604388 VALIDATED 1626591 GNG5P4 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 4 2 2 2 p13.1 73496406 73496889 + 73645556 73646039 + 73418428 73418911 + 100101933 ABBA01075580;AC074008;AMYH02004072;NG_006563;NG_011690 pseudo HGNC:33553 INFERRED 1626592 GNG5P3 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 3 11 11 11 q23.1 108888148 108888640 + 111734929 111735421 + 111864206 111864698 + 100101932 ABBA01039812;AMYH02025574;AP001781;NG_006562;NG_009210 pseudo HGNC:33552 INFERRED 1626590 GNG5P5 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 5 13 13 13 q14.2 28936982 28937406 + 47881251 47881675 + 47307116 47307540 + 22823124 100101935 ABBA01050996;AL354814;NG_006564 pseudo HGNC:33554 INFERRED 736477 GNG2 guanine nucleotide binding protein (G protein), gamma 2 This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011] 14 14 14 q21 32194027 32303511 + 52327022 52436518 + 51847172 51969800 + 1580863;6480464;6484113;6907045;8554872 10339615;10518015;10744734;10833460;11196645;11294873;11313909;11483580;11698416;12399457;12477932;12486123;12507995;12527722;12606627;12626323;12782285;12853961;14512443;14702039;15105422;15451670;15489334;15611108;15747776;15761153;15782186;15889144;16099817;16102047;16344560;16418336;16892066;17255364;17492941;18029348;18045877;18240029;18577758;18729826;19168127;19376773;19913121;20007712;20133939;20181083;20628086;21679469;22065575;22505724;22940628;22957104;23031273;23548203;24462769;25015289;7624799;7782277;7972043;8208289;8290554;8521505;8636150;9009193;9063897;9152406;9238069;9286705;9789084 54331 G3V2C9;G3V2N0;G3V2W5;G3V3J9;G3V415;P59768 AB074180;ABBA01018158;ABBA01018159;ABBA01018160;ABBA01018161;AF130106;AF493870;AK001024;AK026424;AK026425;AK092371;AK307171;AL079307;AL358333;AL832878;AMYH02029185;AMYH02029186;BC020774;BC041446;BC060856;BE245271;BQ025819;CH471078;DA226565;DA322879;DA785895;DC318652;KF455890;NM_001243773;NM_001243774;NM_053064;XM_006720173 AAG35531;AAH20774;AAH60856;AAM12584;CAI46198;EAW65663;EAW65664;EAW65665;NP_001230702;NP_001230703;NP_444292;P59768;XP_006720236 Hs.187772;Hs.709082;Hs.723399;Hs.741081 1665174;1667612;1700904;1716501;1739409;1857101;2130334;2159297 D14S769;D14S812E;D14S886;D14S896;G29171;RH104079;RH121536;WI-22143 OTTHUMP00000245055;OTTHUMP00000245056;OTTHUMP00000245057;OTTHUMP00000245058;OTTHUMP00000245059;g gamma-I;guanine nucleotide binding protein gamma 2;guanine nucleotide binding protein, gamma 2;guanine nucleotide-binding protein G(I)/G(O) gamma-2 subunit;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 APPROVED protein-coding ENSG00000186469 HGNC:4404 16234 606981 REVIEWED 731985 GNB5 guanine nucleotide binding protein (G protein), beta 5 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] 15 15 15 q21.2 29307586 29378010 - 52413123 52483565 - 52120926 52191368 - 1580863;6480464;6893539;6484113;6907045;8554872 22074925 10051672;10339615;10521509;10644457;11007869;11076863;11230166;11256614;11675383;12119397;12477932;12606627;14702039;15474482;15489334;15489336;16135253;16169070;16381901;16867977;16884933;18094259;19322201;19376773;19773279;20374718;21511947;21832049;21900206;21988832;24462769;8636150;8910430;9315921;9606987;9789084 10681 B3KWS4;H0YLU1;H0YNW7;O14775;Q96F32 ABBA01039065;ABBA01039066;AC010674;AC023906;AF017656;AF300650;AF501885;AK094776;AK125702;AK290330;AK314775;AL117471;AMYH02030443;AMYH02030444;AMYH02030445;AMYH02030446;AW967075;BC011671;BC013997;CH471082;NM_006578;NM_016194 AAC63826;AAG18444;AAH11671;AAH13997;AAM15921;BAF83019;BAG37312;BAG54236;CAB55946;CAL37903;EAW77436;EAW77437;EAW77438;EAW77439;EAW77440;EAW77441;EAW77442;EAW77443;EAW77444;NP_006569;NP_057278;O14775 Hs.155090 1658557;1694996;1695918;1699654;1773033;2108777;2164507;2167493;5014051;5037552 A003P09;D8S2278;D8S2279;G44711;GNB5_7978;RH103431;RH45294;SHGC-78877;STS-AA017518;STS-W49489 FLJ37457;FLJ43714;GB5;gbeta5 G protein, beta subunit 5L;G protein, beta-5 subunit;OTTHUMP00000162718;guanine nucleotide binding protein beta 5;guanine nucleotide-binding protein subunit beta-5;guanine nucleotide-binding protein, beta subunit 5L;transducin beta chain 5 APPROVED protein-coding ENSG00000069966 HGNC:4401 09191 604447 REVIEWED 1348974 GNG7 guanine nucleotide binding protein (G protein), gamma 7 ENCODES a protein that exhibits signal transducer activity (inferred); INVOLVED IN behavioral fear response (inferred); cellular response to glucagon stimulus (inferred); energy reserve metabolic process (inferred); PARTICIPATES IN glutamate signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH 5-aza-2'-deoxycytidine; 5-azacytidine; aflatoxin B1 19 19 19 p13.3 2448700 2582967 - 2511218 2702746 - 2511220 2702748 - 1580863;6480464;6907045 11181995;12477932;12626323;12782285;14702039;15057824;15489334;16169070;16344560;17185339;18219292;19056867;19168127;19376773;20379614;20543539;21139048;21906983;22183866;23403885;24324551;8308009;8636150;9600093 2788 K7ESC6;O60262 AB010414;ABBA01002745;ABBA01002746;ABBA01002747;ABBA01002748;ABBA01002749;ABBA01002750;ABBA01002751;ABBA01002752;ABBA01002753;ABBA01002754;ABBA01002755;ABBA01002756;ABBA01002757;ABBA01002758;ABBA01002759;ABBA01002760;ABBA01002761;ABBA01002762;ABBA01002763;AC005512;AC005756;AC006538;AC092068;AC104432;AC104537;AF493874;AK024465;AK123863;AK311750;AMYH02035202;AMYH02035203;AMYH02035204;AMYH02035205;AMYH02035206;AMYH02035207;AMYH02035208;AMYH02035209;AMYH02035210;AMYH02035211;AMYH02035212;AMYH02035213;AMYH02035214;AMYH02035215;AMYH02035216;BC010463;BC014466;BC037318;BC053630;CH471139;DA106844;DA247608;KF456469;NM_052847 AAC32595;AAH14466;AAH53630;AAM12588;BAA28348;BAB15755;BAG34693;EAW69374;NP_443079;O60262 Hs.515544;Hs.735237 1341825;1646172;5015619;5016596;5022425;5022578;5037552;5128123 D11S3114;D19S565;D1S1423;D1S3035;D22S296;D8S2279;GDB:631802;SHGC-153161 FLJ00058 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 protein-coding ENSG00000176533 HGNC:4410 07638;10376 604430 VALIDATED 735730 GNG8 guanine nucleotide binding protein (G protein), gamma 8 INVOLVED IN cellular response to glucagon stimulus (inferred); energy reserve metabolic process (inferred); nervous system development (inferred); PARTICIPATES IN glutamate signaling pathway; FOUND IN heterotrimeric G-protein complex (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; valproic acid; 3,3',4,4',5-pentachlorobiphenyl (ortholog) 19 19 19 q13.32 43940858 43941464 - 47137333 47137939 - 46634076 46634682 - 1580863;6480464;6907045 10819326;12477932;12486123;12626323;12782285;15489334;17185339;19376773;19913121;20628086;22940628 94235 Q9UK08 ABBA01040981;AC093503;AF188179;AF493875;AMYH02036230;BC095514;CH471126;NM_033258 AAF04569;AAH95514;AAM12589;EAW57434;NP_150283;Q9UK08 Hs.283961 g-protein gamma 8 subunit;gamma-9;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8 protein-coding ENSG00000167414 HGNC:19664 13593 PROVISIONAL 737441 GNG5 guanine nucleotide binding protein (G protein), gamma 5 G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010] 1 1 1 p22 83208179 83216434 - 84964006 84972262 - 84498323 84506579 - 1300048;6480464;6907045 10819326;11042152;12477932;12486123;12626323;12665801;12782285;15489334;1549114;16341674;16710414;17185339;19056867;19168127;19376773;19946888;20877624;21139048;21890473;21906983;21963094;22505724;22940628;23000965;24250222;24816145;3113327;7606925;8636150;9653160;9790912 2787 P63218 ABBA01045654;AF038955;AF085709;AF493873;AK312111;AL359762;AMYH02001377;BC003563;BM809260;BM834854;BT006823;CH471097;NM_005274 AAC39869;AAC72203;AAH03563;AAM12587;AAP35469;BAG35047;EAW73236;NP_005265;P63218 Hs.645427 FLJ92393 OTTHUMP00000011474;OTTHUMP00000011565;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 APPROVED protein-coding ENSG00000174021 HGNC:4408 11865 600874 VALIDATED 1352530 GNL1 guanine nucleotide binding protein-like 1 The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 32107271 32123489 - 30509154 30525371 - 30541377 30557594 - 1580863;6480464;8554872 12477932;14702039;16341674;16344560;16702430;17525332;18255255;19851445;19912639;20360068;21139048;21890473;22145905;22244851;22863883;22939629;23000965;24654937;24816145;8180467;8889548 2794 A2AB27;A8MPZ0;B4DWZ0;B4DYK6;P36915 AB103601;AB202092;ABBA01038049;AI433804;AK026391;AK095071;AK293596;AK298042;AK301738;AK302480;AK316391;AL662800;AL662822;AL662825;AL831892;AL831942;AMYH02013435;BA000025;BC006343;BC013959;BC018366;BC063657;BM833876;BQ188153;BT006648;BU687484;BX000357;BX248518;BX927220;CH471081;CR388372;CR759912;CR847863;CR936927;DA044212;L25665;NM_005275;XM_005249015;XM_005272793;XM_005274939;XM_005275093;XM_005275235;XM_005275369;XM_005275529 AAA66492;AAH13959;AAH18366;AAH63657;AAP35294;ABM81689;ABM84852;ABM87095;BAB63327;BAE78611;BAF31262;BAG57062;BAG60340;BAG63202;BAG63768;BAH14762;EAX03294;EAX03295;NP_005266;P36915;XP_005249072;XP_005272850;XP_005274996;XP_005275150;XP_005275292;XP_005275426;XP_005275586 Hs.118354;Hs.83147 1654882;1696104;1770968;1786126;2119519;2122411;2165552 2186;RH46605;RH46746;SHGC-172549;SHGC-79132;WI-13727;WI-17348 DKFZp547E038;DKFZp547E128;FLJ37752;HSR1 GTP-binding protein HSR1;HSR1 GTP-binding protein;OTTHUMP00000029186;guanine nucleotide-binding protein-like 1 APPROVED protein-coding ENSG00000204590 HGNC:4413 00879 143024 VALIDATED 8662809 GNL2P1 guanine nucleotide binding protein-like 2 (nucleolar) pseudogene 1 7 7 7 p12.2 50075978 50078295 - 49981806 49984124 - 49942210 49944528 - 12853948 100270790 ABBA01008173;AC096568;AMYH02015685;CH236955;NG_009768 pseudo HGNC:50779 INFERRED 1343902 GNGT2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010] 17 17 17 q21 43738075 43741222 - 47283596 47287936 - 49206234 49210574 - 1580863;6480464;6893539;6907045 22074925 10570481;11714923;12477932;12486123;12743112;15489334;16344560;16973746;17185339;17207965;18729826;19168127;19376773;23535732;8636150;8889548;8943291;9108307;9286705 2793 D6RDH5;O14610 ABBA01041192;AC069454;AF001158;AF001159;AF001160;AF365870;AF493876;AI857683;AK312839;AMYH02033562;BC008663;BM723861;BU742490;CH471109;DA248836;NG_009841;NM_001198754;NM_001198755;NM_001198756;NM_031498;XM_006721819 AAB70039;AAH08663;AAK53384;AAM12590;ADQ33186;BAG35693;EAW94688;EAW94689;NP_001185683;NP_001185684;NP_001185685;NP_113686;O14610;XP_006721882 Hs.181781 1670662;2162703 SGC30727;STS-AA016200 G-GAMMA-8;G-GAMMA-C;GNG8;GNG9;GNGT8 G protein cone gamma 8 subunit;G-gamma-9;OTTHUMP00000220018;OTTHUMP00000220019;OTTHUMP00000220020;OTTHUMP00000220021;OTTHUMP00000220022;g gamma-C;gamma-T2 subunit;guanine nucleotide binding protein gamma 9;guanine nucleotide binding protein gamma transducing activity polypeptide 2;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 APPROVED protein-coding ENSG00000167083 HGNC:4412 06792 139391 REVIEWED 1606313 GNL3 guanine nucleotide binding protein-like 3 (nucleolar) The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 3 3 3 p21.1 52698648 52707224 + 52719936 52728513 + 52685920 52694497 + 6480464;6907045 11085516;11790298;12429849;12464630;12477932;12777385;14648588;14702039;15112336;15489334;15595646;15657390;15857956;16012751;16097049;16169070;16282439;16670719;17000083;17000763;17310849;17353931;17494866;18419830;18426907;18448670;18519946;18646696;19033382;19106111;19367581;19379559;19416921;19454010;19471022;19487455;19596686;19648109;19706044;19823871;19946888;20020773;20021940;20360068;20431927;20572164;20664182;21045149;21132010;21139048;21145461;21182205;21242306;21443540;21655359;21730156;21892090;21903422;21906983;21907836;21926972;21988832;22045740;22050045;22081066;22174890;22318725;22479202;22505724;22586326;22641345;22751105;22763110;22939629;22944692;23000965;23092984;23455922;23537643;23602568;23974872;24119536;24457600;24763828;24769896;24816145;24886551;24960197;25027693 26354 B4DMU5;C9JYH9;C9JZT7;Q9BVP2 ABBA01024500;AC104446;AF191018;AI028402;AK027514;AK027516;AK315484;AMYH02006812;AMYH02006813;AY825265;BC001024;BF732788;CF272475;CH471055;NG_027871;NM_014366;NM_206825;NM_206826 AAF09482;AAH01024;AAV74413;ACE86724;ACE87410;BAB55168;BAB55169;BAG37868;EAW65249;EAW65250;EAW65251;EAW65252;NP_055181;NP_996561;NP_996562;Q9BVP2 Hs.313544 1645021;1647842;1682271;2168196 D3S2852E;IB223;RH12841;RH25508 C77032;E2IG3;MGC800;NNP47;NS E2-induced gene 3 protein;OTTHUMP00000213382;OTTHUMP00000213383;estradiol-induced nucleotide binding protein;guanine nucleotide-binding protein-like 3;novel nucleolar protein 47;nucleolar GTP-binding protein 3;nucleostemin APPROVED protein-coding ENSG00000163938 HGNC:29931 06419 608011 REVIEWED 1342846 GNLY granulysin The product of this gene is a member of the saposin-like protein (SAPLIP) family and is located in the cytotoxic granules of T cells, which are released upon antigen stimulation. This protein is present in cytotoxic granules of cytotoxic T lymphocytes and natural killer cells, and it has antimicrobial activity against M. tuberculosis and other organisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 2 p11.2 85749716 85754178 + 85921414 85925967 + 85694291 85698854 + 1580863;6480464 10449094;10644038;11418670;12145461;12421959;12477932;12483306;12488100;12626573;12884856;15223905;15489334;15778384;15843520;16344560;16980658;17038537;17596262;17703412;18192122;18490721;18584314;18688023;19029983;19106590;19111751;19243819;19258923;19454696;19687290;19861007;20237496;20503287;20660289;20889547;21296981;21501511;21623991;21819408;21832049;22045985;2209093;2212946;22216262;22586033;22788687;22890551;23399514;23801887;24035442;24269628;2434598;24906149;8423048;9058801;9194222;9756476 10578 B4E3H9;H0YDW8;P22749 A00142;A07389;AA883466;ABBA01075767;AC012454;AK296106;AK304728;AK308781;AK310057;AK311012;AK311537;AK311538;AK311657;AMYH02004187;BC023576;BC063245;CH471053;CR541859;DA932688;GN344067;M85276;NM_006433;NM_012483;X05044;X54101;XM_005264084;XM_005264085;XM_005264086;XM_005264087 AAA59935;AAH23576;ABM83193;ABM86394;BAG58856;BAG65491;CAA00015;CAA00661;CAA28715;CAA38035;CAG46657;CAY55969;EAW99483;EAW99484;EAW99485;EAW99486;NP_006424;NP_036615;P22749;XP_005264141;XP_005264142;XP_005264143;XP_005264144 Hs.105806 2129277;5022450 D10S275;STS-M85276 519;D2S69E;LAG-2;LAG2;NKG5;TLA519 OTTHUMP00000160682;OTTHUMP00000203266;OTTHUMP00000229037;OTTHUMP00000229039;T-cell activation protein 519;T-lymphocyte activation gene 519;lymphocyte-activation gene 2;lymphokine LAG-2 APPROVED protein-coding ENSG00000115523 HGNC:4414 01788 188855 REVIEWED 1318585 GNG13 guanine nucleotide binding protein (G protein), gamma 13 Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009] 16 16 16 p13.3 1047927 1050619 - 848041 850733 - 798041 800733 - 1580863;6480464;6907045 10570481;11157797;11675383;12454992;12477932;12486123;12606627;12626323;12782285;15078334;15489334;15616553;16344560;16473877;19168127;20660057;8889548 51764 Q9P2W3 AB030207;ABBA01030343;AE006465;AF493880;AK312139;AL031033;AMYH02031210;AY029486;BC093760;BC095525;BM931126;CH471112;DA111448;NM_016541 AAH93760;AAH95525;AAK40269;AAK61257;AAM12594;BAA92768;BAG35075;EAW85702;EAW85703;NP_057625;Q9P2W3 Hs.247888 2220588 UniSTS:485658 G(gamma)13;h2-35 G gamma subunit, clone:h2-35;OTTHUMP00000045507;guanine nucleotide binding protein 13, gamma;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 APPROVED protein-coding ENSG00000127588 HGNC:14131 12116 607298 VALIDATED 1346519 GNL3L guanine nucleotide binding protein-like 3 (nucleolar)-like The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] X X X p11.22 58389207 58426283 + 54556644 54593720 + 54530211 54567287 + 737633;1580863;6480464;6907045 12477932 14702039;16189514;16251348;16396496;17034816;18029348;19322201;19487455;19946888;21063916;21132010;21139048;21906983;21963094;22505724;22797925;23000965;24561123 54552 Q05DU1;Q9NVN8 ABBA01069609;ABBA01069610;ABBA01069611;ABBA01069612;ABBA01069613;AK001475;AK022325;AK128277;AL391139;AMYH02039493;AX876827;BC003603;BC011720;BC022829;BQ674906;CH471154;HI574280;NG_021314;NM_001184819;NM_019067 AAH03603;AAH11720;BAA91712;CAE89448;CBX47629;EAW93182;EAW93183;EAW93184;EAW93185;NP_001171748;NP_061940;Q9NVN8 Hs.654677 1644132;1652807;1676422;1677350;1688554;5015619;5015961;5016478;5016596;5021367;5037552 D11S3114;D12S1334;D15S1477;D6S1233E;D8S2279;GDB:434012;GDB:631802;RH26312;RH80726;SHGC-32184;WI-19377 FLJ10613;RP11-353K22.1 OTTHUMP00000023374;OTTHUMP00000023375;guanine nucleotide-binding protein-like 3-like protein;novel GTPase APPROVED protein-coding HGNC:25553 06514 300873 REVIEWED 1605036 GNL3LP1 guanine nucleotide binding protein-like 3 (nucleolar)-like pseudogene 1 INTERACTS WITH disodium selenite; valproic acid 5 5 5 q12.1 57128580 57130566 - 60187503 60189489 - 60891676 60893662 - 6480464 12477932;14702039;21906983 80060 ABBA01015806;AC104113;AMYH02011374;NG_005649;NG_009289 2151064;2220548 RH66055;UniSTS:484387 FLJ12595;GNL3LP APPROVED pseudo HGNC:25733 07781 INFERRED 1343978 GNL2 guanine nucleotide binding protein-like 2 (nucleolar) ENCODES a protein that exhibits poly(A) RNA binding; PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; nucleolus; INTERACTS WITH 17beta-estradiol; cobalt dichloride; copper(2+) sulfate 1 1 1 p34.3 36310401 36339576 - 38032413 38061586 - 37566812 37595985 - 1580863;6480464;6907045;8554872 11790298;12429849;12477932;15489334;15635413;17081983;17353931;18029348;19471022;19615732;19946888;21145461;21182205;21832049;21906983;22412018;22586326;22678362;23000965;23537643;24144296;24778252;24816145;25027693;8822211 29889 H0YG10;Q13823;Q5T0F3 AA766044;ABBA01023272;ABBA01023273;AK130697;AK298358;AK307352;AK312915;AL034379;AL513220;AMYH02000798;BC000107;BC009250;CH471059;DB452094;L05425;NM_013285 AAC37588;AAH00107;AAH09250;ABM83109;ABW03493;BAG35761;BAG60601;EAX07333;NP_037417;Q13823 Hs.75528 2171918;5015861;5037552;5126071;7185938 D10S16;D8S2279;RH71352;SHGC-74625 FLJ40906;NGP1;Ngp-1 HUMAUANTIG;OTTHUMP00000004517;autoantigen NGP-1;novel nucleolar guanosine 5'-triphosphate binding protein autoantigen;nucleolar G-protein gene 1;nucleolar GTP-binding protein 2;nucleolar GTPase protein-coding ENSG00000134697 HGNC:29925 11006 609365 VALIDATED 2291823 GNPATP glyceronephosphate O-acyltransferase pseudogene 16 16 16 q21 45192636 45195257 - 60688008 60690629 - 60654104 60656725 - 100130060 ABBA01025337;AC018555;AMYH02032151;NG_007472 pseudo HGNC:34031 INFERRED 1313596 GNPDA2 glucosamine-6-phosphate deaminase 2 The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 4 4 4 p12 45152192 45176638 - 44694190 44728651 - 44682183 44726634 - 1580863;6480464;6907045 12477932;12965206;14702039;15342556;17207965;18029348;19079261;19164386;19692490;19746409;19812171;19851340;19910641;19910938;20215397;20520848;20571754;20712903;20724581;20725061;20816152;20816195;20843981;20935630;21139048;21147891;21248185;21369819;21544081;21593506;21773002;21779088;21796137;21796141;21890473;21906983;21912638;21935397;22029802;22083549;22179955;22344219;22456663;22511254;22710927;22863883;23000965;23563607;23583978;23669352;24250222;24654937;24816145 132789 Q8TDQ7;V9GYK3;V9GYW0 AB209904;ABBA01014312;AC096586;AF247786;AK055639;AK296051;AL834506;AMYH02009137;AY173948;BC015532;BP274548;BQ021991;CH471069;HY163015;HY180477;NM_001270880;NM_001270881;NM_138335;NR_073094;NR_073095;XM_005248051;XM_005248052;XM_005248053;XM_006713992;XM_006713993 AAH15532;AAL95691;AAO49718;ADQ31863;BAB70977;BAD93141;BAG58815;CAD39163;EAW93019;EAW93020;NP_001257809;NP_001257810;NP_612208;Q8TDQ7;XP_005248108;XP_005248109;XP_005248110;XP_006714055;XP_006714056 Hs.21398;Hs.597934;Hs.619562 1664803;1773296;1785022;2114581;2149605;2174727 D4S1248;G33944;SHGC-149837;SHGC-59695;SHGC-59698;WI-13892 GNP2;SB52 4921523I18Rik;GNPDA 2;OTTHUMP00000125263;OTTHUMP00000218298;OTTHUMP00000219325;OTTHUMP00000219326;glcN6P deaminase 2;glucosamine-6-phosphate isomerase 2;glucosamine-6-phosphate isomerase SB52;putative glucosamine-6-phosphate isomerase APPROVED protein-coding ENSG00000163281 HGNC:21526 13594 613222 REVIEWED 1346016 GNPTA glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase (mucolipidoses II and III) ASSOCIATED WITH MUCOLIPIDOSIS II ALPHA/BETA (inferred); MUCOLIPIDOSIS III ALPHA/BETA (inferred) 7240710 2795 HGNC:4418 252500;252600 732912 GNMT glycine N-methyltransferase The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. The encoded protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). [provided by RefSeq, Oct 2008] 6 6 6 p12 44480758 44483869 + 42928500 42931618 + 42960762 42963880 + 1300048;1580863;6480464;6907045;7240710;7242425;7242551;8554872;8699517 22342103;23073625 10843803;11596649;11810299;12477932;12566309;12697024;14651980;14739680;15340920;15489334;16189514;16317120;17332283;17660255;18029348;18624901;19035462;19048631;19146867;19161160;19439180;20634891;21044950;21411609;21572396;21691217;21988832;22160218;22183894;22264868;22415010;22807109;22850906;23475283;23883094;23997240;2722853;6157075;9261130;9495250 27232 Q14749;V9HW60 ABBA01050702;AF101475;AF101477;AL158815;AMYH02013635;AMYH02013636;BC032627;CH471081;FJ224320;NG_008396;NM_018960;X62250 AAF78289;AAF78290;AAH32627;ABM81745;ABM84900;ACI46012;CAA44164;EAX04123;EAX04124;NP_061833;Q14749 Hs.144914 1739675;1790341;2136945;2180222 D6S1532E;GNMT;STS-D20352;STS-U56602 HEL-S-182mP;OTTHUMP00000016412;epididymis secretory sperm binding protein Li 182mP APPROVED protein-coding ENSG00000124713 HGNC:4415 05970 606628;606664 REVIEWED 733936 GNPAT glyceronephosphate O-acyltransferase This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. [provided by RefSeq, Jul 2008] 1 1 1 q42 204641787 204678590 + 231376919 231413719 + 231241173 231277973 + 704404;1580863;6480464;6907045;7240710;8554872;8699517 10215861;10456321;11152660;11237722;12477932;14702039;15489334;15604093;15687349;16169070;16710414;16756494;16997000;19946888;20178365;21139048;21525035;21890473;21988832;21990100;22002062;22990118;23000965;23933200;24250222;24816145;2804060;6528320;8125298;8186247;8619474;9110174;9459311;9536089 8443 O15228;Q5TBH6;Q5TBH8 AB209882;ABBA01033034;ABBA01033035;ABBA01033036;AF035285;AF043937;AF218233;AJ002190;AK222773;AK223304;AK297982;AK309994;AK311386;AK314181;AL117352;AL137801;AMYH02002889;BC000450;BE222957;CH471098;KF455162;NG_008240;NM_014236;XM_005273313;XM_005273314 AAB88177;AAC24505;AAG17547;AAH00450;BAD93119;BAD96493;BAD97024;BAG36862;BAG60291;CAA05242;EAW69953;NP_055051;O15228;XP_005273370;XP_005273371 Hs.498028 1771479;2115553;2115555;2126905;2142826 A002B05;AL009359;D1S1888E;G19874;SHGC-57628 DAP-AT;DHAP-AT DAPAT;DHAPAT;OTTHUMP00000036147;OTTHUMP00000036148;acyl-CoA:dihydroxyacetonephosphateacyltransferase;acyl-coa:dihydroxyacetonephosphate acyltransferase;dihydroxyacetone phosphate acyltransferase;glycerone-phosphate O-acyltransferase APPROVED protein-coding ENSG00000116906 HGNC:4416 04120 222765;602744 REVIEWED 69083 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) The protein encoded by this gene is secreted and then cleaved to form the 10 aa luteinizing hormone-releasing hormone (LHRH, also known as gonadoliberin-1), and prolactin release-inhibiting factor (also known as GnRH-associated peptide 1). LHRH stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutation in this gene are associated with hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2012] 8 8 8 p21-p11.2 24237655 24243437 - 25276774 25282556 - 25419258 25425040 - 704404;1580863;2292541;6480464;6907045;8699517;8554872;7240710 17692113 10391209;10832105;11278902;11875100;12040003;12054733;12447356;12477932;12633791;12770744;12788881;12969578;1310542;14565958;14594454;14726258;15001648;15062568;15138251;15229199;15283968;15489334;15490304;15546906;15562029;15578334;15809743;16061872;16157590;16359986;16754659;1682898;17202595;17220347;17456575;17557168;17605472;1767338;17680884;18463157;18467526;18477660;18959738;18959739;18980792;19064572;19086053;19190109;19403562;19453261;19489874;19535795;19567835;19640273;19849976;20118984;20138117;20188792;20301509;20389089;20400076;20424473;20484732;20529119;20634197;20727862;20727865;20734064;20807514;20887715;20951683;21368045;21646369;21714833;21722705;21827674;21855365;22024993;22074952;22161498;23077052;23287110;23404564;23550003;23550012;23648337;23735672;23936060;24010162;24264576;2671939;2863757;2867548;3511544;6090951;6760865;8145771;8529206;8692981;8784072;8889548;9202214;9414473;9484912 2796 P01148 ABBA01005564;AC091185;AL047164;AMYH02017646;BC067290;BC126437;BC126463;CB243067;CH471080;M12578;NG_016457;NM_000825;NM_001083111;X01059;X15215 AAA35916;AAI26438;AAI26464;ADR82781;CAA25526;CAA33285;EAW63591;EAW63592;NP_000816;NP_001076580;P01148 Hs.82963 1658498;1741623;2160982;2182958 D8S1916;GDB:181593;SHGC-31262;WI-18854 GNRH;GRH;HH12;LHRH;LNRH GnRH-associated peptide 1;OTTHUMP00000225172;OTTHUMP00000225173;gonadotropin-releasing hormone 1;gonadotropin-releasing hormone 1 (leutinizing-releasing hormone);luliberin I;progonadoliberin I;progonadoliberin-1;prolactin release-inhibiting factor APPROVED protein-coding ENSG00000147437 HGNC:4419 08860 152760;614841 REVIEWED 1603959 GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010] 12 12 12 q23.2 101803304 101888673 - 102139275 102224645 - 101745497 101830867 - 6480464;7240710;8554872;8699517 10574462;12168954;12477932;14702039;15342556;15489334;16094673;16116615;16120602;16200072;16299590;16465621;16630736;16835905;17043677;18190596;19197337;19617216;19634183;19659762;19955174;20147709;20301728;20301730;20379614;20489197;20880125;20944643;21549105;21832049;21890473;21988832;22884963;23192343;23566849;23733939;23773965;24250222;24375680;24550498 79158 F8VQW2;H0YIE6;H0YIK3;H0YIU2;Q3T906;Q9BUA5 AB033034;ABBA01053236;ABBA01053237;AC063950;AI418963;AI479646;AK001821;AK056137;AL359588;AL832172;AM085438;AMYH02027073;AMYH02027074;AY687932;BC002779;BC042615;BC071687;BC094884;BC131787;BP276948;BU754017;CH471054;CR749871;NG_021243;NM_024312;XM_006719593 AAH02779;AAH42615;AAH71687;AAH94884;AAI31788;AAV98624;BAA86522;BAA91926;BAB71102;CAB94874;CAH18711;CAJ30014;EAW97682;EAW97683;EAW97684;NP_077288;Q3T906;XP_006719656 Hs.46850 1663087;1687740;1700342;1772538;1856490;2132481;2132483;2165126;2184737;5015619;5018005;5018007;5022578;5022651;5022849;5022851;5095269;5095271;5095273;5095275;5095277;5095279;5095281;5095283;5095285;5095287;5095289 A002C44;D11S2921;D11S3114;D12S1910;D12S1917;D1S1423;G19942;GNPTAB_exon_1;GNPTAB_exon_11;GNPTAB_exon_12;GNPTAB_exon_13;GNPTAB_exon_14/15;GNPTAB_exon_16;GNPTAB_exon_17/18;GNPTAB_exon_19;GNPTAB_exon_2;GNPTAB_exon_20;GNPTAB_exon_21;GNPTAB_exon_3/4;GNPTAB_exon_5;GNPTAB_exon_6/7;GNPTAB_exon_8/9/10;RH103791;RH11237;RH99242;SHGC-31878;STS-N35222 DKFZp762B226;GNPTA;ICD;KIAA1208;MGC4170 GlcNAc phosphotransferase;N-acetylglucosamine-1-phosphotransferase subunits alpha/beta;OTTHUMP00000243820;UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta;UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine;glcNAc-1-phosphotransferase subunits alpha/beta;glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase;stealth protein GNPTAB APPROVED protein-coding ENSG00000111670 HGNC:29670 11350 252500;252600;607840 REVIEWED 1343814 GNRHR2 gonadotropin-releasing hormone (type 2) receptor 2, pseudogene In non-hominoid primates and non-mammalian vertebrates, the gonadotropin releasing hormone 2 receptor gene (GnRHR2) encodes a seven-transmembrane G-protein coupled receptor. However, in human, the corresponding reading frame contains a premature stop codon, which has been suggested to encode a selenocysteine residue, but there is no solid evidence for selenocysteine incorporation (PMID: 12538601). It appears that the human GnRHR2 transcription occurs but the gene does not likely produce a functional multi-transmembrane protein. A non-transcribed pseudogene of GnRHR2 is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2013] 1 1 1 q12 119713173 119719433 - 145509820 145516076 - 145919013 145925341 + 1580863;6480464 10396028;11352653;11707068;11861490;12444048;12538601;15761034;16189182;16406723;16754659;17296196;18240029;18577758;19086053;19453261;19657181;20398908;20630060 114814 Q96P88 AB239331;ABBA01005742;AC243547;AF403014;AK310736;AL160282;AY077708;AY081843;AY233132;AY233133;DQ266410;NR_002328;NR_104033;NR_104034 AAL27000;AAL89821;AAP74658;ABB82942;BAF35581;Q96P88 Hs.356873;Hs.711567 1645734;1661843;1662793;1678441;1682493;1683068;1794784;2141608;2158585 A008J33;Bdaa5e06;G19805;PMC55504P1;RH10610;RH80039;SHGC-75413;WI-19788;WI-22172 GnRH-II-R APPROVED pseudo ENSG00000211451 HGNC:16341 11780 612875 VALIDATED 1351197 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 ENCODES a protein that exhibits glucosamine 6-phosphate N-acetyltransferase activity (inferred); monosaccharide binding (inferred); INVOLVED IN cellular protein metabolic process (inferred); dolichol-linked oligosaccharide biosynthetic process (inferred); glucosamine metabolic process (inferred); PARTICIPATES IN amino sugar metabolic pathway; hexosamine biosynthetic pathway; nucleotide sugar metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); endoplasmic reticulum-Golgi intermediate compartment (inferred); Golgi apparatus (inferred); INTERACTS WITH all-trans-retinoic acid; cobalt dichloride; diazinon 14 14 14 q22.1 33291588 33308063 - 53241911 53258386 - 52775193 52791668 - 1625539;1580863;6480464;6907045;8554872 15466941 12477932;14702039;15489334;18675810;20639865;21139048;21988832;22053931;23000965;23535732;9972309 64841 G3V4W4;G3V5E4;Q96EK6 ABBA01018169;ABBA01018170;ABBA01018171;AK001469;AK025575;AK090577;AL139317;AMYH02029193;AX239822;BC012179;BG717628;BQ182796;CA435370;CA489597;CH471061;NM_198066;XM_005268012;XM_006720238 AAH12179;BAC03482;CAC88313;EAW80614;EAW80615;EAW80616;EAW80617;NP_932332;Q96EK6;XP_005268069;XP_006720301 Hs.478025 1664006;1679065;1686989;2121768;2124896;2140215;5015961 D14S1308;D15S1477;RH44742;RH93777;RH99190;SHGC-37165;STS-Z40984 FLJ10607;GNPNAT;Gpnat1 OTTHUMP00000178996;OTTHUMP00000245251;OTTHUMP00000245252;glucosamine 6-phosphate N-acetyltransferase;phosphoglucosamine acetylase;phosphoglucosamine transacetylase protein-coding ENSG00000100522 HGNC:19980 17046 VALIDATED 1347634 GNRH2 gonadotropin-releasing hormone 2 The protein encoded by this gene is a preproprotein that is cleaved to form a secreted 10 aa peptide hormone. The secreted decapeptide regulates reproduction in females by stimulating the secretion of both luteinizing- and follicle-stimulating hormones. Three transcript variants that encode unique proproteins but the same peptide hormone have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p13 3086255 3088378 + 3024268 3026391 + 3042814 3045870 + 1580863;6480464;6907045 11459794;11780052;11861490;11889221;11931351;12447356;12477932;12663744;12770744;12969578;14726258;15001648;15489334;15562029;15578334;16754659;17202595;1727812;17296196;17451432;17914092;18467526;18477660;18599546;19064572;19086053;19453261;19608641;20018426;20379614;21193558;21239435;21832049;23287110;9419371 2797 O43555;Q9HBX7 ABBA01053804;AF036329;AF036330;AF190640;AL121905;AMYH02036591;BC069362;BC115399;BC115400;BF061974;BF062277;CH471133;NM_001501;NM_178331;NM_178332;XM_006723560 AAC02980;AAC02981;AAG17539;AAH69362;AAI15400;AAI15401;EAX10557;EAX10558;EAX10559;NP_001492;NP_847901;NP_847902;O43555;XP_006723623 Hs.129715 GnRH-II;LH-RHII OTTHUMP00000030075;OTTHUMP00000030076;OTTHUMP00000030077;OTTHUMP00000030078;luliberin II;luteinizing hormone-releasing hormone II;progonadoliberin II;progonadoliberin-2 APPROVED protein-coding ENSG00000125787 HGNC:4420 03830 602352 REVIEWED 1353704 GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010] 16 16 16 p13.3 1616015 1627466 + 1401900 1413352 + 1351899 1363351 + 737633;1599045;1580863;6480464;8554872 10712439;12477932 11157797;12107412;15231747;15489334;15498874;15616553;17213182;18029348;19199708;19370764;19659762;19708128;19955174;20034096;20147709;20301784;20951619;21906983;22884963;24250222;24316125;3019310 84572 E9PQQ5;H0YEA7;Q9UJJ9 AA513392;ABBA01030310;AE006467;AF302786;AK126110;AK312067;AL031709;AMYH02031227;AY203933;BC014592;BC131525;BU145878;BX398427;CD671181;CH471112;DT219524;NG_016985;NM_032520 AAG27706;AAH14592;AAI31526;AAK61277;AAP34456;ABM81753;ABM84907;BAG35003;EAW85666;EAW85667;EAW85668;NP_115909;Q9UJJ9 Hs.241575 1670734;1670736;1793778;1793780;5016700;5037552;5493467 D8S2279;PMC289169P1;PMC289169P2;RH11799;RH79802;SHGC-61167;UniSTS:486590 C16orf27;GNPTAG;LP2537;RJD9 N-acetylglucosamine-1-phosphotransferase subunit gamma;OTTHUMP00000045503;UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma;glcNAc-1-phosphotransferase subunit gamma;n-acetylglucosamine-1-phosphotransferase, gamma subunit APPROVED protein-coding HGNC:23026 06384 607838 REVIEWED 737339 GNRHR gonadotropin-releasing hormone receptor This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q21.2 66065459 66084171 - 68603093 68621804 - 67737375 67756086 - 1580863;704404;6480464;6907045;7240710;8554872;8699517 10022417;10084584;10366411;10523035;10686191;10999776;11278883;11318785;11397842;11397871;11981042;11994356;11997175;12040003;12050282;12054603;12062898;12089350;12161512;12446597;12477932;12568864;12679486;12788881;12843188;12947046;1333190;14551223;14565958;14726258;15105440;15149726;15489334;15529183;15546906;15563546;15761034;15886197;16213849;16301116;16322390;16359986;16364974;16613990;16754659;16968799;17170088;17179725;17452338;17710733;17942747;18240029;18252959;18356273;18463157;18541137;18682503;18980792;19064572;19086053;19095769;19190109;19246515;19372239;19449676;19453261;19489874;19640273;19724914;19787259;19858197;20182875;20236028;20301509;20400076;20507982;20628612;20634197;20670943;20734064;20836995;21274726;21277937;21317933;21330483;21527534;21717411;21832286;22024993;22623531;22679506;22710726;22724017;22745237;22766261;22778172;22788855;23155690;23176180;23233674;23287110;23380421;23632635;23891857;24685158;7534732;7613048;7768323;7958384;8386108;8472841;9259321;9272108;9371856;9414473;9425890 2798 P30968 ABBA01022900;AC079880;AF001952;AMYH02009379;AY392011;BC113546;CH471057;CS052866;L03380;L07949;NG_009293;NM_000406;NM_001012763;S60587;S77472;U19602;U19603;Z81148;Z99995 AAA35917;AAA35918;AAA63884;AAA63885;AAB26287;AAB33884;AAB71348;AAI13547;AAR92228;ADR83139;CAB03541;CAB17082;CAI72249;EAX05557;EAX05558;NP_000397;NP_001012781;P30968 Hs.407587 2120610;2123296;2149873;2161615;2190601;5117110 D4S3174;GDB:437520;GNRHR;SHGC-59524;SHGC-60090;WI-16095 GNRHR1;GRHR;HH7;LHRHR;LRHR;gnRH-R OTTHUMP00000159637;OTTHUMP00000218970;gnRH receptor;gonadotropin-releasing hormone (type 1) receptor 1;leutinizing hormone releasing horomone receptor;leutinizing-releasing hormone receptor;luliberin receptor;type I GnRH receptor APPROVED protein-coding HGNC:4421 00732 138850;146110;228300 REVIEWED 4890150 GNRHR2P1 gonadotropin-releasing hormone (type 2) receptor 2 pseudogene 1 14 14 14 q23.1 40915652 40916842 - 60865541 60866731 - 60398823 60400013 - 11013075;11707068 404718 AF403013;AL132778;AMYH02029294;NG_003256 1678441;1682493;2158585 A008J33;Bdaa5e06;RH80039 pseudo HGNC:39424 INFERRED 5508552 GOLGA2P1 golgin A2 pseudogene 1 8 8 8 q21.3 83864179 83867084 - 87669612 87672517 - 86657384 86660289 - 100418751 ABBA01037365;AC013751;AMYH02018363;NG_026050 pseudo HGNC:31052 INFERRED 1349274 GNPDA1 glucosamine-6-phosphate deaminase 1 Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010] 5 5 5 q21 137461013 137473392 - 141380234 141392620 - 142000669 142013055 - 1580863;6480464;6907045 10964516;12477932;12616532;12965206;14702039;15372022;15489334;16189514;16344560;17207965;18029348;19056867;21139048;21807125;21890473;21906983;22863883;23000965;24654937;24816145;7577655;7584044;8747459;9438414;9714720 10007 B7Z3X4;D6R917;D6R9P4;D6RAY7;D6RB13;D6RFF8;D6RFK5;P46926 ABBA01026392;AC005740;AF029914;AF035809;AF048826;AJ002231;AK022779;AK290686;AK296452;AMYH02012354;BC001717;BC012853;BC020769;BC022322;BC024664;CA432951;CH471062;D31766;DA661926;NM_005471;XM_005268348;XM_006714747 AAB84217;AAB88748;AAC05123;AAC62119;AAH12853;AAH20769;AAH22322;ADQ32271;BAA06544;BAF83375;BAG51114;BAH12360;CAA05259;EAW61890;EAW61891;EAW61892;EAW61893;NP_005462;P46926;XP_005268405;XP_006714810 Hs.633853 1857163;2133416;2165738;2181304 D5S1636E;D5S2437;D5S2481;RH25293 GNP1;GNPDA;GNPI;GPI;HLN;KIAA0060 GNPDA 1;OTTHUMP00000160062;OTTHUMP00000222767;OTTHUMP00000222768;OTTHUMP00000222769;OTTHUMP00000222770;OTTHUMP00000222771;OTTHUMP00000222773;OTTHUMP00000222774;OTTHUMP00000222775;glcN6P deaminase 1;glucosamine-6-phosphate isomerase 1;oscillin APPROVED protein-coding ENSG00000113552 HGNC:4417 09048 601798 VALIDATED 1351801 GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 Heterotrimeric guanine nucleotide-binding proteins (G proteins) transduce extracellular signals received by transmembrane receptors to effector proteins. Transducin is a guanine nucleotide-binding protein found specifically in rod outer segments, where it mediates activation by rhodopsin of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase. Transducin is also referred to as GMPase. GNGT1 encodes the gamma subunit of transducin (Hurley et al., 1984 [PubMed 6438626]; Scherer et al., 1996 [PubMed 8661128]).[supplied by OMIM, Mar 2008] 7 7 7 q21.3 88234120 88238785 + 93535820 93540485 + 93906508 93911173 + 6480464;6893539;6907045 22074925 10360181;10585447;10636894;12477932;12486123;12690205;12782285;12853948;15368366;15489334;15901556;1706334;17110384;17185339;17548351;19168127;20048162;20098747;22065575;22424883;23954591;6438626;7665596;8500562;8636150;8661128;9789084 2792 C9JGI9;P63211 ABBA01045787;AC002076;AF493869;AMYH02016285;BC029367;CH236949;CH471091;CR456912;NM_021955;S62026;S62027;U41492;U41493 AAB26896;AAB92386;AAB92387;AAD13931;AAH29367;AAM12583;AAS02021;ABM83486;ABM86701;CAG33193;EAL24139;EAW76805;EAW76806;NP_068774;P63211 Hs.732212 1666345;1857293 D7S2775;GDB:6028515 GNG1 OTTHUMP00000162593;OTTHUMP00000208599;guanine nucleotide-binding protein G(T) subunit gamma-T1;transducin gamma chain APPROVED protein-coding ENSG00000127928 HGNC:4411 01805 189970 VALIDATED 1343463 GOLGA2P2Y golgin A2 pseudogene 2, Y-linked There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.23 10526470 10531334 - 26356114 26360978 - 24208857 24214831 - 12815422 84559 AC012005;AF332229;NG_004755;NG_017010;NR_001555;XR_424046 AAK13481 Hs.531603;Hs.745571 GOLGA2LY;GOLGA2LY1;GOLGA2P2 golgi autoantigen, golgin subfamily a, 2-like, y-linked APPROVED pseudo ENSG00000239533 HGNC:16479 400035 REVIEWED 1604793 GOLGA2P10 golgin A2 pseudogene 10 INTERACTS WITH atrazine 15 15 q25.2 82763613 82798352 - 82471477 82513999 - 10746788;12477932;14702039;15146197;15156102;15489334;16344560;16751776;8439957;8889548;9847074 80154 AC010724;AC135995;AC245033;AF316855;AI005278;AK026448;AK309420;AK309732;AK310769;AK311124;AK311170;BC007811;BC065260;BC072390;BM981202;BQ232584;CN343502;DB070142;NR_026811;NR_033936;NR_103496 AAK15476;BAB15487 Hs.454640;Hs.546614;Hs.733902 FLJ17811;FLJ22795;FLJ99461 APPROVED pseudo HGNC:26229 08007 VALIDATED 7204787 GOLGA2P6 golgin A2 pseudogene 6 10 10 p11.23 30418176 30428305 - 30653087 30663377 - 14702039 729668 AK097852;AK125739;AK309583;AL161651;NR_120609;XR_171057;XR_172422;XR_252722 Hs.652158 pseudo HGNC:44948 VALIDATED 1322690 GOLGA1 golgin A1 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein is associated with Sjogren's syndrome. [provided by RefSeq, Feb 2010] 9 9 9 q33.3 98288526 98351354 - 127640573 127703386 - 124878294 124941107 - 1580863;6480464 10209123;12477932;12972563;14702039;15269279;15654769;16262725;16344560;16498633;17276477;17724343;17872946;20379614;20583170;20610657;22190034;24250222;8889549;9324025 2800 H0YE54;Q5T165;Q92805;R4GNH1 AA027278;AB208858;ABBA01043758;AK302445;AK307789;AL050012;AL354928;AL451125;AMYH02021636;AW237629;BC032853;BG699932;CH471090;DA324844;NM_002077;U51587;XM_005251929;XM_006717062;XM_006717063 AAB81549;AAH32853;ABM83387;BAD92095;BAG63742;EAW87605;EAW87606;NP_002068;Q92805;XP_005251986;XP_006717125;XP_006717126 Hs.133469;Hs.59504 1671889;1673793;1766091;1855277;1856364;2121737;2128999;2179840;5491965 D9S1723;D9S1928;D9S2063;GOLGA1-1;RH12038;RH79254;SHGC-149475;SHGC-32296;SHGC-4663 MGC33154;golgin-97 Golgin subfamily A member 1;OTTHUMP00000022117;gap junction protein, alpha 4, 37kD;golgi autoantigen, golgin subfamily a, 1 APPROVED protein-coding ENSG00000136935 HGNC:4424 03934 602502 REVIEWED 1604923 GOLGA2P7 golgin A2 pseudogene 7 15 15 q25.2 84867600 84898920 - 84198848 84230168 - 12477932;16751776 388152 AC136698;AK074778;AK307326;AK309056;AK311265;AMYH02030945;AW205478;BC054509;BC071951;BC096759;BG248101;BU931675;DQ573151;DQ575135;DQ585932;NR_027001 BAC11203 Hs.405809;Hs.546614 FLJ90297;MGC60197 APPROVED pseudo ENSG00000225151 HGNC:49516 14199 VALIDATED 6481590 GOLGA2P4 golgin A2 pseudogene 4 22 22 43180465 43180572 + 42784459 42784566 + 100873742 ABBA01017924;AL049757;AMYH02038469;NG_032207 pseudo HGNC:38600 INFERRED 9586257 GOLGA2P8 golgin A2 pseudogene 8 15 15 15 q26.1 67241078 67248551 + 90836732 90844207 + 90293500 90300975 + 20379614 728477 ABBA01053052;ABBA01053053;ABBA01053054;AC091167;AMYH02031039;CH471101;NG_023539 EAX02100 pseudo HGNC:49922 INFERRED 9586261 GOLGA2P9 golgin A2 pseudogene 9 19 19 19 p12 22611088 22618381 + 22779059 22786352 + 22596257 22603550 + 440518 ABBA01051412;AC011467;AK302042;AMYH02035825;AMYH02035826;CR936832;NR_033899 BAG63435 Hs.568223 pseudo ENSG00000269332 HGNC:49921 VALIDATED 1314172 GNS glucosamine (N-acetyl)-6-sulfatase The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008] 12 12 12 q14 64772049 64818041 - 65107222 65153226 - 64713442 64759446 - 1599248;1580863;6480464;7240710;8554872;8699517 12573255 12477932;12624138;12754519;1463457;14702039;15489334;15962010;16344560;16990043;17474147;1755850;17998446;19650410;20232353;21890473;21906983;22268729;22863883;23874603;24250222;3196333;3391615;3689315;8125298 2799 F5H4C6;F6S8M0;H0YFA9;H7C3P4;P15586;Q7Z3X3 AA725727;ABBA01026594;ABBA01026595;AC025262;AK054660;AK223484;AK291771;AK296759;AK300350;AK302443;AK304158;AK308094;AK308454;AMYH02026666;BC012482;BC017742;BC038967;BX486076;BX537363;CA447080;CH471054;DA333542;DA437901;NG_008955;NM_002076;Z12173 AAH12482;ADZ15425;BAD97204;BAF84460;BAG59340;BAG62092;BAG63740;BAG65046;CAA78164;CAD97608;EAW97138;EAW97139;EAW97140;NP_002067;P15586 Hs.334534 1658386;1661258;1744021;1746591;1746637;2117781;2134444;2161362;5017609;5037552;7186969 D8S2279;G64479;G64499;GDB:384851;GNS;RH11164;RH44874;SHGC-34784;SHGC-35771;STS-Z12173 G6S;MGC21274 N-acetylglucosamine-6-sulfatase;OTTHUMP00000239531;OTTHUMP00000239532;OTTHUMP00000239539;OTTHUMP00000239540;OTTHUMP00000239542;glucosamine-6-sulfatase APPROVED protein-coding ENSG00000135677 HGNC:4422 09637 252940;607664 REVIEWED 1351575 GOLGA4P2 golgin A4 pseudogene 2 14 14 14 q32.33 2687 3074 + 106788488 106789003 - 106332236 106333081 - 9841928 192132;378711 AB019439;ABBA01074098;AC245166;NG_001019 APPROVED pseudo HGNC:20727 VALIDATED 1352947 GOLGA4 golgin A4 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] 3 3 3 p22-p21.3 37218214 37341938 + 37284682 37408370 + 37243191 37366879 + 1580863;6480464 10209123;10231028;10737800;11149944;11303027;12477932;12972563;1400343;14580338;14702039;14718574;14718928;15265687;15302935;15654769;15870108;17043677;17081983;18308930;18394601;18849489;19224922;20085233;21139048;21832049;21900423;21906983;24250222;24816145;8537393;8626529;9013329 2803 C9J0Y3;C9JHJ5;E7EVX2;H0Y6I0;Q13439;Q49A56;Q86W71 AA779873;AB209693;ABBA01024844;ABBA01024845;ABBA01024846;ABBA01024847;ABBA01024848;ABBA01024849;ABBA01024850;AC097359;AF273047;AK022389;AK290550;AK300192;AK307429;AMYH02006557;AMYH02006558;AMYH02006559;AW881112;AY531221;BC023648;BC045543;BC050444;BX640663;CH471055;KJ818093;NM_001172713;NM_002078;U31906;U41740;X76942;X82834;XM_005265069;XM_005265070;XM_005265071;XM_005265072;XM_005265073;XM_005265074;XM_005265075;XM_006713110 AAC50434;AAC51791;AAG34907;AAH45543;AAH50444;AAI72405;AAS98194;AIJ28482;BAD92930;BAF83239;BAG61965;CAA54261;CAA58041;EAW64494;EAW64495;EAW64496;NP_001166184;NP_002069;Q13439;XP_005265126;XP_005265127;XP_005265128;XP_005265129;XP_005265130;XP_005265131;XP_005265132;XP_006713173 Hs.344151 1644955;1704226;1706444;1762235;1848280;2138822;2154422;2174026;2184000;5014051;5019629;5022200;5022651;5037552;5094975;5109281 A005P39;D11S2921;D1S1425;D8S2054;D8S2278;D8S2279;G29146;G32260;GOLGA4;L18426;RH66759;SGC33712;SHGC-146102;SHGC-80804;SHGC-83140;STS-AA017401 CRPF46;GCP2;GOLG;MU-RMS-40.18;p230 256 kDa golgin;72.1 protein;Golgin subfamily A member 4;OTTHUMP00000161363;OTTHUMP00000208897;OTTHUMP00000209805;centrosome-related protein F46;golgi autoantigen, golgin subfamily a, 4;golgin-240;golgin-245;protein 72.1;trans-Golgi p230 APPROVED protein-coding ENSG00000144674 HGNC:4427 03941 602509 REVIEWED 1347402 GOLGA2 golgin A2 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010] 9 9 9 q34.11 101669012 101689172 - 131018108 131038286 - 128255829 128276007 - 1580863;6480464;8554872 10209123;10487747;10560974;10744704;10769027;10931861;11035033;11285137;11306556;11591729;11696556;11703931;11718716;11739401;11739402;11781572;11855815;11901144;12111718;12270925;12477932;12665801;12788069;14623284;15037601;15101818;15123239;15164053;15194699;15229288;15489334;15796781;16097034;16169070;16189514;16489344;16964243;18029348;18045989;18166528;18167358;19059912;19109421;19242490;20086247;20197635;20360068;20936779;21078624;21139048;21182205;21567396;21757827;21900206;21906983;21987572;21988832;22558309;22735382;22792062;23125841;23402259;23455922;23602568;24250222;24583282;24722188;24816145;8315394;8557739;9150144;9346242;9478999;9628863;9753325 2801 B7ZC06;H0Y7B8;Q08379;R4GND7 ABBA01043872;AF248953;AL590708;AMYH02021710;AW583140;AY823636;BC006381;BC014188;BC069268;BQ181201;BT007248;BX647920;CH471090;CQ834570;L06147;NM_004486;XM_005251930;XM_005251931;XM_005251932 AAA35920;AAF65550;AAH14188;AAH69268;AAP35912;AAV76025;CAH05500;CAI46071;EAW87762;EAW87763;EAW87764;EAW87765;NP_004477;Q08379;XP_005251987;XP_005251988;XP_005251989 Hs.155827 1676105;1678125;1712320;5113515 G54069;RH39755;RH69450;RH80222 GM130;MGC20672 130 kDa cis-Golgi matrix protein;GM130 autoantigen;Golgi matrix protein GM130;Golgin subfamily A member 2;OTTHUMP00000022234;SY11 protein;golgi autoantigen, golgin subfamily a, 2;golgin-95 APPROVED protein-coding ENSG00000167110 HGNC:4425 03989 602580 REVIEWED 6480140 GOLGA4P3 golgin A4 pseudogene 3 14 14 14 q32.33 87047769 87048685 - 107109482 107110398 - 106653466 106654382 - 9841928 192130 AB019437;AC245369;NG_001019 1761069 SHGC-145014 pseudo HGNC:43786 VALIDATED 1349989 GOLGA4P1 golgin A4 pseudogene 1 14 14 q32.33 106813213 106813726 - 106357284 106357797 - 9841928 192131 AB019439;AC234301;AC245166;NG_001019 APPROVED pseudo HGNC:18660 VALIDATED 6769182 GOLGA5P1 golgin A5 pseudogene 1 5 5 5 p13.1 39056382 39057009 - 39169036 39170464 - 39168934 39170362 - 100418736 ABBA01024209;AC010633;AMYH02011197;NG_024586;NG_029596 pseudo HGNC:43925 INFERRED 1606654 GOLGA6A golgin A6 family, member A The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes. [provided by RefSeq, Jul 2008] 15 15 15 q24.1 52501616 52514310 + 74362198 74374891 - 74069857 74082550 - 6480464 11156619;11161787;11509185;11896453;12477932;12915487;16344560 342096 A2VDJ1;Q9NYA3 AC013486;AF263742;AF266285;AK292574;AMYH02030787;BC131515;DB039513;NM_001038640 AAF72196;AAF72535;AAI31516;AAI56410;AAI57133;BAF85263;NP_001033729;Q9NYA3 Hs.546408;Hs.672474 FLJ75859;GLP;GOLGA6 Golgin linked to PML;Golgin subfamily A member 6A;golgi autoantigen, golgin subfamily a, 6;golgi autoantigen, golgin subfamily a, 6A;golgi autoantigen, golgin subfamily a, member 6;golgin-like protein APPROVED protein-coding ENSG00000159289 HGNC:13567 610288 VALIDATED 1603462 GOLGA2P3Y golgin A2 pseudogene 3, Y-linked There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10526470 10531334 - 27601458 27606322 + 25455311 25460175 + 12815422 401634 Q96RM8 ABBA01030398;AC006328;AF332229;NG_004755;NR_002195 AAK13481 Hs.531603 GOLGA2LY2;GOLGA2P3 APPROVED pseudo HGNC:32426 VALIDATED 1313187 GOLGA3 golgin A3 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010] 12 12 12 q24.33 133044786 133104423 - 133345495 133405659 - 132768909 132829078 - 1580863;6480464;8554872 10209123;10737800;10791974;12036294;12130652;12477932;14522980;14702039;15489334;15829563;15951434;16051665;16341674;16543716;16714286;16870622;17081983;17118120;17643375;17711851;18029348;19322201;19946888;20170975;20379614;20562859;21078624;21139048;22542470;22814606;23125841;23184937;23402259;23443559;23891004;24639526;24816145;8315394;8889548;9295333 2802 Q08378 AB027133;ABBA01042544;ABBA01042545;ABBA01042546;AC127070;AC136467;AF485338;AK092223;AMYH02027594;AMYH02027595;AMYH02027596;BC037937;BC060826;BC142658;BC146675;BF902971;BM842318;BM981309;BQ898615;CH471218;D63997;L06148;NG_029887;NM_001172557;NM_005895;XM_005266162;XM_005266164;XM_005266165;XM_005266167;XM_006719736;XM_006719737;XM_006719738;XM_006719739;XM_006719740 AAA35921;AAH60826;AAI42659;AAI46676;AAL93149;BAA23661;BAB71953;EAW54817;EAW54818;EAW54819;EAW54820;NP_001166028;NP_005886;Q08378;XP_005266219;XP_005266221;XP_005266222;XP_005266224;XP_006719799;XP_006719800;XP_006719801;XP_006719802;XP_006719803 Hs.507333 1674739;1694766;1746211;1773039;1775596;2127615;5117897 Cda1jf08;D12S1924;G43591;G64708;GDB:631813;RH47421;RH69908 GCP170;MEA-2 Golgi complex-associated protein of 170 kD;Golgi membrane associated protein;Golgi peripheral membrane protein;Golgin subfamily A member 3;OTTHUMP00000237617;OTTHUMP00000237618;OTTHUMP00000237619;SY2/SY10 protein;golgi autoantigen, golgin subfamily a, 3;golgi complex-associated protein of 170 kDa;golgin-160;golgin-165;male enhanced antigen-2 APPROVED protein-coding ENSG00000090615 HGNC:4426 03990 602581 REVIEWED 1317779 GOLGA5 golgin A5 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013] 14 14 14 q32.12 73314759 73360445 + 93260576 93306308 + 92794231 92839963 + 1580863;1599259;6480464;7240710;8699517;8554872 9443391 12477932;12508121;12538640;12656988;12699642;15004235;15144186;15489334;15592455;15718469;16344560;17081983;18029348;19060882;19946888;20874812;21990969;22558309;24583282;2734021;9915833 9950 H0YK03;Q8TBA6 ABBA01030446;AF085199;AI288133;AJ132949;AK293077;AK303789;AL132987;AL702150;AMYH02029767;AW103620;AW294222;AY644768;BC010134;BC023021;BX248744;CH471061;DB096772;NG_023248;NM_005113 AAD09753;AAH23021;AAV85456;BAF85766;BAG64746;CAB36967;CAD66551;EAW81502;NP_005104;Q8TBA6 Hs.104320 1678711;2180193;5092938 A009C34;D14S897;G32424 GOLIM5;RFG5;ret-II Golgin subfamily A member 5;OTTHUMP00000245464;RET-fused gene 5 protein;cell proliferation-inducing gene 31 protein;golgi autoantigen, golgin subfamily a, 5;golgi integral membrane protein 5;golgin-84 APPROVED protein-coding ENSG00000066455 HGNC:4428 06079 188550;606918 REVIEWED 3517752 GOLGA6L1 golgin A6 family-like 1 INTERACTS WITH aflatoxin B1; cadmium atom 15 15 15 q11.2 1 2586 + 22736246 22746002 + 23127066 23136822 - 6480464 12477932;14702039 283767 Q8N7Z2 ABBA01040258;AC116165;AK097517;AMYH02030028;BC127816;NM_001001413;XM_006720363;XM_006725175;XM_006725536 AAI27817;NP_001001413;Q8N7Z2;XP_006720426;XP_006725238;XP_006725599 Hs.531569 5023373 D3S3142 FLJ36131;FLJ40198 Golgin subfamily A member 6-like protein 1;golgi autoantigen, golgin subfamily a, 6-like 1;golgi autoantigen, golgin subfamily a-like protein-coding HGNC:37444 PROVISIONAL 2299185 GOLGA6D golgin A6 family, member D ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 15 q24.2 52501622 52514589 + 75575182 75588148 + 75282841 75295807 + 6480464;8554872 16572171 653643 P0CG33 ABBA01060520;AC068338;AMYH02030813;NM_001145224 NP_001138696;P0CG33 Hs.672474 golgi autoantigen, golgin subfamily a, 6D;putative golgin subfamily A member 6D APPROVED protein-coding HGNC:32204 INFERRED 1354461 GOLGA6B golgin A6 family, member B This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. [provided by RefSeq, Jul 2008] 15 15 15 q24.1 52501616 52514312 + 72947038 72959738 + 72608625 72667397 + 6480464 11156619;11161787;11509185;11896453;12915487;16572171 55889 A6NDN3 ABBA01038724;AC009712;AC100827;AMYH02030762;CH471136;NM_018652;XM_006720604;XM_006720605;XM_006720606 A6NDN3;AAI69330;EAW99264;EAW99265;EAW99266;EAW99267;EAW99268;EAW99269;NP_061122;XP_006720667;XP_006720668;XP_006720669 Hs.546408 GOLGA6D GOLGA;Golgin subfamily A member 6B;OTTHUMP00000223252;Putative golgin subfamily A member 6D;golgi autoantigen, golgin subfamily a, 6B;golgin-like protein;putative golgin subfamily A member 6B APPROVED protein-coding ENSG00000215186 HGNC:32205 17047 REVIEWED 1604610 GOLGA2P5 golgin A2 pseudogene 5 FOUND IN Golgi apparatus (inferred); INTERACTS WITH (-)-demecolcine; ethyl methanesulfonate; methyl methanesulfonate 12 12 12 q23.1 100222292 100232607 - 100550169 100567121 - 100156391 100173343 - 6480464 10737800;12477932;14702039;16344560;16751776 55592 Q6ZN85;Q9HBQ8 ABBA01053263;AC010203;AF217995;AK124885;AK131330;AL137680;AL137720;AL359652;AMYH02027053;AMYH02027054;BC034587;BC048272;BC092435;BC109389;BC110077;BC127181;BC141930;BQ366018;BX504274;BX647364;CH471054;DB014223;DQ572567;DQ592914;NR_024261;NR_036632 AAG17237;AAI09390;AAI41931;BAD18490;CAB70892;EAW97621;EAW97622;Q9HBQ8 Hs.524660;Hs.645240 1657766;1665109 G30583;RH79243 DKFZp434A0411;DKFZp434K1926;DKFZp434M0331;GOLGA2B;GOLGA2L1 Golgin subfamily A member 2B;golgi autoantigen, golgin subfamily a, 2-like 1;golgin A2-like 1;golgin subfamily A member 2-like protein 1 APPROVED pseudo ENSG00000238105 HGNC:25315 13195 VALIDATED 2299186 GOLGA6C golgin A6 family, member C FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 q24.2 75550899 75565796 + 75258519 75273455 + 6480464 16572171 653641 A6NDK9 AC068338;AMYH02030813;NM_001164404;XM_006720652;XM_006720653 A6NDK9;NP_001157876;XP_006720715;XP_006720716 Hs.540230 Golgin subfamily A member 6C;golgi autoantigen, golgin subfamily a, 6C;putative golgin subfamily A member 6C APPROVED protein-coding ENSG00000167195 HGNC:32206 INFERRED 2881559 GOLGA6L13P golgin A6 family-like 13, pseudogene Y Y q11.223 27566430 27567812 + 25420283 25421665 + 12815422;9847074 360026 AC006328;NG_004755 pseudo HGNC:23960 VALIDATED 3077624 GOLGA6L15P golgin A6 family-like 15, pseudogene Y q11.23 26314334 26320641 + 100287730 AC023274 pseudo HGNC:38114 2881560 GOLGA6L12P golgin A6 family-like 12, pseudogene Y Y q11.223 26394625 26396007 - 24248478 24249860 - 12815422 360025 AC012005;NG_004755 pseudo HGNC:23959 VALIDATED 7407663 GOLGA6L19 golgin A6 family-like 19 15 15 83011400 83018196 - 131755 138542 - 6480464 16572171 101927601 H0YKK7 AC011295;XM_006725184 H0YKK7;XP_006725247 Putative golgin subfamily A member 6-like protein 19 protein-coding HGNC:49416 MODEL 2881541 GOLGA6L14P golgin A6 family-like 14, pseudogene Y Y q11.223 27638821 27641746 - 25492674 25495599 - 12815422;9847074 360027 AC006328;NG_004755 pseudo HGNC:23961 VALIDATED 7409625 GOLGA6L21P golgin A6 family-like 21, pseudogene 15 83188579 83195246 + 101927784 XR_246663;XR_253425 pseudo HGNC:49417 2881210 GOLGA6L10 golgin A6 family-like 10 INTERACTS WITH cadmium atom; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 15 15 15 q25.2 1851 2126 + 82632347 82641706 - 82339993 82349475 - 6480464 16344560;16572171;21890473;9847074 647042 A6NI86;D6RB28 ABBA01060650;AC011295;AC126339;AC139425;AC243919;AK302092;CR936602;DB042163;DB044490;NM_001164465;XM_006720643;XM_006725183 A6NI86;BAG63477;NP_001157937;XP_006720706;XP_006725246 Hs.454625;Hs.498322;Hs.720685 5019114 RH102012 GOLGA6L18 golgi autoantigen, golgin subfamily a, 6-like 10;golgin A6 family-like 18;golgin subfamily A member 6-like protein 10-like;putative golgin subfamily A member 6-like protein 10 protein-coding ENSG00000278662 HGNC:37228 VALIDATED 2881562 GOLGA6L11P golgin A6 family-like 11, pseudogene Y Y q11.23 26316058 26318816 + 24169911 24172669 + 12815422 360024 AC023274;NG_004755 GOLGA6L15P pseudo HGNC:23958 VALIDATED 7408128 GOLGA6L20 golgin A6 family-like 20 15 83086408 83107878 + 6480464 8889548 101927658 A6NFL8 AC010724;BY996849;CA450015;CR936812;DR157204;NM_001282503;XM_005272452;XM_005272453 A6NFL8;NP_001269432;XP_005272509;XP_005272510 Hs.498322 golgin subfamily A member 6-like protein 9-like;putative golgin subfamily A member 6-like protein 20 protein-coding ENSG00000196648 HGNC:49391 VALIDATED 3051034 GOLGA6L16P golgin A6 family-like 16, pseudogene Y Y Y q11.23 10486092 10488850 + 27643623 27646381 - 25497476 25500234 - 100287845 ABBA01030397;AC006328;NG_021930 pseudo HGNC:38117 INFERRED 3460527 GOLGA6L4 golgin A6 family-like 4 15 q25.2 82695491 82707734 + 12477932;14702039 161527 A6NEF3;H0YA86;J3KQ80 AC136698;AK090778;BC101294;XM_929030 A6NEF3;AAI01295;XP_934123 Hs.534573 5016711;5019114 RH102012;RH48788 golgi autoantigen, golgin subfamily a, 6-like 4 protein-coding HGNC:27256 1603152 GOLGA6L5P golgin A6 family-like 5, pseudogene INTERACTS WITH cadmium atom 15 15 15 q25.2 1851 3532 + 85047738 85060078 - 84504507 84516847 - 6480464 12477932;14702039;16344560;16713569;21078624 374650 ABBA01000296;AC048382;AC244519;AK092490;AK097432;AK130562;AW474779;BE139071;BX647899;CA431034;DA284832;DB050061;NR_003246 BAC03904;BAC05050 Hs.454625;Hs.498322;Hs.498345;Hs.513947;Hs.534573;Hs.728641;Hs.735157 5016711;5019114 RH102012;RH48788 FLJ35171;FLJ40113;GOLGA6L5;GOLGA6L8;MGC141816 APPROVED pseudo HGNC:30472 13416;13442 VALIDATED 2816669 GOLGA6L6 golgin A6 family-like 6 INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 15 q11.2 1 2586 + 20737094 20747114 - 20531856 20541800 - 6480464 14702039;16572171 727832 A8MZA4 AC023310;AC131280;AK093450;AMYH02029986;NM_001145004 A8MZA4;BAC04170;NP_001138476 Hs.569472 5023373 D3S3142 FLJ36131 golgi autoantigen, golgin subfamily a, 6-like 6;golgi autoantigen, golgin subfamily a-like;putative golgin subfamily A member 6-like protein 6;putative transmembrane protein FLJ36131 protein-coding ENSG00000277322 HGNC:37225 VALIDATED 8551349 GOLGA6L22 golgin A6 family-like 22 15 15 q11.2 23569672 23579379 - 22458903 22469230 + 6480464 12477932;16344560;16572171 440243 H0YM25 AC100756;AC100757;AC136687;AMYH02030071;AMYH02030072;AMYH02030073;NM_001271664;XM_006725176 H0YM25;NP_001258593;XP_006725239 golgin subfamily A member 6-like protein 22;putative golgin subfamily A member 6-like protein-coding HGNC:50289 INFERRED 4107324 GOLGA6L7P golgin A6 family-like 7, pseudogene 15 15 q13.1 29090107 29093821 - 28844961 28848675 - 728310 ABBA01042010;AC055876;AK302238;AMYH02030123;NR_047567 BAH13656 Hs.589351 GOLGA6L7 APPROVED pseudo ENSG00000261649 HGNC:37442 VALIDATED 2304159 GOLGA6L2 golgin A6 family-like 2 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH silicon dioxide; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 15 15 15 q11.2 1846640 1852035 - 23684535 23692390 - 23439388 23447243 - 6480464;8554872 12477932;14702039 283685 F8WBV9;H3BMJ4;H3BS38;Q8N9W4 ABBA01048674;AC073446;AC100756;AK093463;AK097414;AMYH02030084;BC129820;BC129821;CH471151;XM_002343322;XM_003846353;XM_006709983;XM_006720798;XM_006726564 AAI29821;AAI29822;BAC04173;EAW57606;EAW57607;Q8N9W4;XP_002343363;XP_003846401;XP_006710046;XP_006720861;XP_006726627 CT105;FLJ36144;MGC149275 cancer/testis antigen 105;golgi autoantigen, golgin subfamily a, 6-like 2;golgi autoantigen, golgin subfamily a-like;golgin subfamily A member 6-like protein 2 APPROVED protein-coding ENSG00000174450 HGNC:26695 08206 MODEL 7404831 GOLGA6L17P golgin A6 family-like 17, pseudogene 15 15 15 q25.2 61383502 61385562 - 82804060 82811851 + 82519552 82527643 + 642402 ABBA01029415;ABBA01029416;AC010724;AC135995;AC245033;AK301885;NR_111962 BAG63317 Hs.498322 GOLGA6L21P pseudo HGNC:49414 VALIDATED 1603464 GOLGA8CP golgin A8 family, member C, pseudogene FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 15 15 q11.2 20767674 20781026 + 20562349 20575703 + 6480464 12477932;16344560;16572171;16751776 729786 A6NN73 AC023310;AC131280;AMYH02029986;DB085317;DQ597523;NR_027411 A6NN73 Hs.592025 GOLGA8C APPROVED pseudo ENSG00000181984 HGNC:32375 VALIDATED 1351077 GOLGA7 golgin A7 INVOLVED IN Golgi to plasma membrane protein transport; peptidyl-L-cysteine S-palmitoylation; protein stabilization; FOUND IN extracellular vesicular exosome; Golgi stack; intrinsic component of Golgi membrane; INTERACTS WITH cobalt dichloride; copper(2+) sulfate; disodium selenite 8 8 8 p11.21 40297177 40317582 + 41348081 41368499 + 41490562 41510980 + 737633;6480464 12477932 11042152;11752456;11827452;14522980;15489334;16000296;19056867;19913121;20628086;21139048;21890473;21906983;21963094;22053931;23000965;23080069;25015289 51125 Q7Z5G4 AB104615;ABBA01021130;ABBA01021131;AC009630;AF068291;AF125102;AK026613;AL695304;AMYH02017875;AMYH02017876;AMYH02017877;AV650886;BC001227;BC012032;BG939345;BI553491;CH471080;NM_001002296;NM_001174124;NM_016099 AAD39919;AAF65180;AAH12032;BAC82368;EAW63258;EAW63259;NP_001002296;NP_001167595;NP_057183;Q7Z5G4 Hs.654773 1664095;2118743 RH66402;WI-14408 GCP16;GOLGA3AP1;GOLGA7A;HSPC041;MGC21096;MGC4876 Golgi complex-associated protein of 16kDa;Golgin subfamily A member 7;OTTHUMP00000225805;OTTHUMP00000225806;OTTHUMP00000225807;OTTHUMP00000225809;golgi autoantigen, golgin subfamily a, 7;golgi complex-associated protein of 16 kDa APPROVED protein-coding ENSG00000147533 HGNC:24876 13595 609453 VALIDATED 1605499 GOLGA8EP golgin A8 family, member E, pseudogene INTERACTS WITH silicon dioxide 15 15 15 q11.2 1 2492 - 23435070 23448423 + 22424673 22438026 - 6480464 12477932 390535 ABBA01123653;AC100757;AC136687;AK310240;AL041315;AMYH02030075;BC063309;DB516755;DQ309037;NR_033350 ABD73921 Hs.454647;Hs.592025 5016711;5113373 RH48788;RH98512 GOLGA8E APPROVED pseudo HGNC:32377 17381 VALIDATED 1602144 GOLGA8B golgin A8 family, member B FOUND IN Golgi apparatus (inferred); membrane (inferred); INTERACTS WITH carmustine; cisplatin; copper atom 15 15 15 q14 11481955 11634982 - 34817296 34875836 - 34525095 34583651 - 6480464 10660574;10677249;12477932;14702039;15489334;16572171;16751776;20835239;24250222 440270 A8MQT2;C9J1B5 ABBA01038526;ABBA01038527;ABBA01038528;ABBA01038529;AC027139;AK097551;AL133593;AMYH02030169;AMYH02030170;AMYH02030171;AMYH02030172;AMYH02030173;AMYH02030174;AMYH02030175;BC143254;BC144610;BX647673;NM_001023567;NR_027410;XM_005254389;XM_005254391;XM_006720530 A8MQT2;AAI43255;AAI44611;NP_001018861;XP_005254446;XP_005254448;XP_006720593 Hs.720151 1658113;1684100;1757613;1783316;1789206;2107123;2132019;2165032;2165034;2172584;2190961;5016711;5024039 A001V17;D16S325;FSCN1__6758;G19681;G65602;MARC_12099-12100:1004643257:1;RH46336;RH48788;RH92530;SHGC-14031;SHGC-145107;SHGC-89201;UniSTS:61556 GOLGA5;KIAA0855 Golgin subfamily A member 8B;OTTHUMP00000159946;golgi autoantigen, golgin subfamily a, 8B;golgin-67 APPROVED protein-coding ENSG00000215252 HGNC:31973 18635 609619 VALIDATED 1625096 GOLGA8DP golgin A8 family, member D, pseudogene FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 7 15 15 q11.2 30551934 30555119 - 22702285 22715728 - 23157340 23170783 + 6480464 12477932;15489334;16751776 100132979 Q0D2H9 AC116165;AK292534;AMYH02030022;AMYH02030023;BC110417;DQ599035;NR_027407 AAI10418;BAF85223;Q0D2H9 Hs.454647;Hs.510812;Hs.592025 FLJ77521;GOLGA8D;MGC102859 APPROVED pseudo ENSG00000175676 HGNC:32376 VALIDATED 1606114 GOLGA8G golgin A8 family, member G FOUND IN Golgi apparatus (inferred); INTERACTS WITH progesterone; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 15 15 q13.1 28764757 28778143 - 28519611 28532997 - 6480464 12477932;14702039;16751776 283768 H3BMC3;Q08AF8 ABBA01165257;AC138749;AC243913;AK302813;AL137398;BC066774;BC099913;BC125193;BC125194;DQ595587;DQ597249;NR_033353 AAH99913;AAI25194;AAI25195;BAG64013;Q08AF8 Hs.169639;Hs.510812 5016711 RH48788 DKFZp434K052 APPROVED pseudo ENSG00000183629 HGNC:25328 17331 VALIDATED 4106655 GOLGA8H golgin A8 family, member H FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 q13.2 30895562 30909952 + 30604030 30617827 + 6480464 16572171;21890473;23962720 728498 P0CJ92;Q8NA68 AC026150;AC091057;AC243687;HG506827;NM_001282490;XM_006720672;XM_006725561;XM_006725562 NP_001269419;P0CJ92;XP_006720735;XP_006725624;XP_006725625 GOLGA6L11;RP11-932O9.9 Golgin subfamily A member 8-like protein 1;golgi autoantigen, golgin subfamily a, 6-like 11;golgin subfamily A member 8H protein-coding HGNC:37443 INFERRED 1604677 GOLGA8F golgin A8 family, member F FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 q13.1 28623784 28636412 + 28378638 28391266 + 6480464 12477932;14702039;15489334;16344560;17672918;18226259 100132565 H3BMC3;Q08AF8 ABBA01154818;AC091304;AC138747;AC139511;AC243660;AK057241;AK302625;AL833871;BC144672;BC150302;DB071191;DQ309038;NR_033351 AAI50303;ABD73922;BAG63868;CAD38728 Hs.510812;Hs.592025 DKFZp434P162;FLJ32679;FLJ59075;FLJ77521;MGC102859;MGC104696;MGC167066 APPROVED pseudo ENSG00000153684 HGNC:32378 VALIDATED 1602143 GOLGA6L9 golgin A6 family-like 9 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cadmium atom; 17alpha-ethynylestradiol (ortholog) 15 15 15 q25.2 1851 3137 + 82709883 82731587 + 82415669 82439387 + 6480464 12477932;8889548;9847074 440295 A6NEM1 ABBA01015428;AC010724;AC135995;AC243919;AK128268;BC041854;BF671239;BY996849;CA450015;CR936812;DR157204;NM_001291420;NM_198181;XM_005254396;XM_006720531;XM_006720532;XM_006720533;XM_006720534;XM_006720535;XM_006720536;XM_006720537;XM_006720538 A6NEM1;AAH41854;NP_001278349;NP_937824;XP_005254453;XP_006720594;XP_006720595;XP_006720596;XP_006720597;XP_006720598;XP_006720599;XP_006720600;XP_006720601 Hs.498322 5016711 RH48788 GOLGA6L20 Golgin subfamily A member 6-like protein 9;OTTHUMP00000244012;golgi autoantigen, golgin subfamily a, 6-like 9;golgi autoantigen, golgin subfamily a, 6D-like;golgin A6 family-like 20;putative golgin subfamily A member 6-like protein 20 APPROVED protein-coding HGNC:37229 11262 VALIDATED 3207436 GOLGA6L3 golgin A6 family-like 3 15 15 q25.3 85783641 85790430 + 85240382 85247199 + 12477932;16572171;21890473 100133220 A6NEY3 AC044860;AK301968;AMYH02030963;BC101293;XM_006720810;XM_006726581 A6NEY3;BAG63381;XP_006720873;XP_006726644 Hs.454625 FLJ61448 Putative golgin subfamily A member 6-like protein 3;golgi autoantigen, golgin subfamily a, 6-like 3;hypothetical golgin-like LOC100133220 protein-coding HGNC:37441 MODEL 2299191 GOLGA8IP golgin A8 family, member I, pseudogene FOUND IN Golgi apparatus (inferred); membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; silicon dioxide 15 15 q11.2 23255242 23262743 + 22610353 22617854 - 6480464 12477932;14702039;16572171 283796 A6NC78 AC025138;AC091565;AK093104;AMYH02030040;NR_024074 A6NC78;BAC04058 Hs.375441 FLJ35785;GOLGA8IP;GOLGA9P APPROVED pseudo ENSG00000277561 HGNC:26660 08189 PROVISIONAL 6903964 GOLGA8N golgin A8 family, member N FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 q13.2 32885657 32896342 + 32593456 32607310 + 6480464 12477932 643699 F8WBI6;H3BMP0 AC123768;AC243655;BC101292;NM_001282494;XM_006720633;XM_006725548 AAI01293;F8WBI6;I6L899;NP_001269423;XP_006720696;XP_006725611 Hs.672754 GOLGA8R golgin subfamily A member 8-like protein 2-like protein-coding ENSG00000232653 HGNC:44405 VALIDATED 6904052 GOLGA8Q golgin A8 family, member Q FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 q13.2 30848469 30854701 + 30556266 30562498 + 6480464 727909 H3BV12 AC026150;AC243679;NG_029301 pseudo HGNC:44408 INFERRED 6904026 GOLGA8K golgin A8 family, member K FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 q13.3 32681801 32696181 - 32389585 32403292 - 6480464 12477932;16572171;21890473 653125 D6RF30 AC139426;AC244200;NM_001282493 D6RF30;NP_001269422 golgin subfamily A member 8K;putative golgin subfamily A member 8I-like protein-coding HGNC:38652 VALIDATED 6903987 GOLGA8S golgin A8 family, member S FOUND IN Golgi apparatus (inferred); INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 15 15 q11.2 23599895 23613471 + 23354748 23368324 + 6480464 16344560;16572171 653061 H3BPF8 AC100756;AMYH02030082;DB053404;NR_038843 Hs.528454 pseudo HGNC:44409 INFERRED 6904007 GOLGA8T golgin A8 family, member T FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 q13.2 30427990 30439395 + 30135787 30147192 + 6480464 653075 H3BQL2 AC120045;AC243790;AK310526;NR_033933 Hs.727141 pseudo HGNC:44410 VALIDATED 1604639 GOLGA8A golgin A8 family, member A The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisternae. Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins constitute a family of proteins which are localized to the Golgi. This gene encodes a golgin which structurally resembles its family member GOLGA2, suggesting that they may share a similar function. There are many similar copies of this gene on chromosome 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 15 15 15 q11.2 11481591 11508713 - 34671269 34729667 - 34379068 34437466 - 6480464 10048485;10660574;10677249;12477932;14702039;22558309 23015 A7E2F4;J3KQL3 AB020662;ABBA01152990;AC025678;AF163441;AF204231;AK123221;AL117569;AL137686;AMYH02030162;AMYH02030163;AMYH02030164;AMYH02030165;AMYH02030166;AMYH02030167;AMYH02030168;BC032774;BC064341;BC093673;BC104800;BC144609;BC150329;BC152410;BX648160;BX648575;CR749361;NM_181077;NR_027409;XM_006720440 A7E2F4;AAF28463;AAF34136;AAH32774;AAH93673;AAI04801;AAI44610;AAI50330;AAI52411;BAA74878;CAH18214;CAH56372;CAH56400;NP_851422;XP_006720503 Hs.182982;Hs.720151 1669377;1680775;1695556;1757613;1774667;1789206;2120915;2165032;2165034;5016711;5024039 A001V17;D15S1224;D15S955;D16S325;G19681;G65602;RH48788;RH91151;SHGC-145107;SHGC-24145;SHGC-68741 GM88 88 kDa Golgi matrix protein;88-kDa golgi protein;GM88 autoantigen;Golgin subfamily A member 8A;OTTHUMP00000160034;golgi autoantigen, golgin subfamily a, 8A;golgin-67 APPROVED protein-coding HGNC:31972 09974 REVIEWED 6904101 GOLGA8M golgin A8 family, member M FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 q13.1 28943917 28964922 - 28698695 28712421 - 6480464 10737800;16572171;21890473 653720 H3BSY2 AC055876;AC243951;BF087405;BQ004100;NM_001282468;XM_005268284;XM_005268285;XM_006720654;XM_006720655;XM_006725549;XM_006725550;XM_006725551;XM_006725552 H3BSY2;NP_001269397;XP_005268341;XP_005268342;XP_006720717;XP_006720718;XP_006725612;XP_006725613;XP_006725614;XP_006725615 Hs.562625;Hs.743947 1681094 RH92635 Golgin subfamily A member 8-like protein 1-like;Putative golgin subfamily A member 6-like protein 7;golgin subfamily A member 8M protein-coding HGNC:44404 VALIDATED 6904100 GOLGA8UP golgin A8 family, member U, pseudogene 100507067 AC004460 pseudo HGNC:44411 MODEL 9586233 GOLGA8VP golgin A8 family, member V, pseudogene 15 15 15 q26.3 78740554 78744870 - 102315484 102319717 - 101775281 101779514 - 16751776 441736 ABBA01020516;AC107977;AC246818;DQ587622;NG_032743 pseudo HGNC:49920 INFERRED 6904075 GOLGA8O golgin A8 family, member O FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 q13.3 32734115 32748486 - 32441914 32455634 - 6480464 12892780;16344560;16572171;21436057;21890473 728047 A6NCC3;H3BSI0 AC135983;BQ477899;DB068178;NM_001277308;XM_006720670;XM_006720671 A6NCC3;NP_001264237;XP_006720733;XP_006720734 Hs.525905;Hs.672754 5015467;5016711 RH48788;RH79010 Golgin subfamily A member 6-like protein 11;golgin subfamily A member 8-like protein 2-like;golgin subfamily A member 8O protein-coding HGNC:44406 VALIDATED 6904053 GOLGA8R golgin A8 family, member R FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 30692765 30706479 - 30400562 30414260 - 6480464 101059918 I6L899 AC019322;AC243687;NM_001282484 NP_001269413 GOLGA8N golgin subfamily A member 8-like protein 2-like;golgin subfamily A member 8R protein-coding HGNC:44407 PROVISIONAL 1349293 GOLPH3 golgi phosphoprotein 3 (coat-protein) The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Jul 2008] 5 5 5 p13.3 32006114 32055713 - 32124817 32174425 - 32124718 32174319 - 1580863;6480464 11042173;12477932;14702039;15489334;16263763;18029348;18187620;19322201;19553991;19624311;19837035;20026658;20379614;21139048;21451436;21499727;21822541;21890473;21906983;22190034;22675169;22745132;22905766;22972189;23006319;23027862;23056210;23132295;23345592;23500462;23990465;24175832;24444035;24458516;24485452;24595000 64083 D6REM1;Q9H4A6 ABBA01066728;ABBA01066729;AC022444;AC025178;AC025181;AJ296152;AK057544;AK075077;AK075156;AK092604;AK128510;AK293368;AK301588;AL133078;AMYH02011122;BC012123;BC033725;BC063586;CH471118;CQ783228;NM_022130 AAH12123;AAH33725;AAH63586;BAC11438;BAG51933;BAG52061;BAG52580;BAG54686;BAG56882;BAG63078;CAB61398;CAC13124;CAF86422;EAX10780;EAX10781;EAX10782;NP_071413;Q9H4A6 Hs.408909 1650818;1661970;1698824;1760509;1785474;2176222;5022578;5037552 D1S1423;D8S2279;RH102976;SHGC-143593;SHGC-149879;SHGC-58346;STS-N29862;STS-N34345 FLJ90675;GOPP1;GPP34;Vps74 Golgi phosphoprotein 3;MIDAS;OTTHUMP00000115847;coat protein GPP34;coat-protein;golgi peripheral membrane protein 1, 34 kDa;golgi protein;golgi-associated protein;mitochondrial DNA absence factor APPROVED protein-coding ENSG00000113384 HGNC:15452 11007 612207 REVIEWED 1322138 GOLIM4 golgi integral membrane protein 4 The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008] 3 3 3 q26.2 166126534 166211952 - 167726457 167813712 - 168008669 168095924 - 1580863;6480464;8554872 11598199;12191016;12207053;12477932;15004235;15331763;16344560;17605763;18029348;18391951;19322201;19946888;20130081;22939629;23400010;23761068;9201717 27333 F8W785;O00461 ABBA01058723;ABBA01058724;AC069243;AC117467;AK307557;AK307718;AMYH02008084;BC143232;BC143233;BC171748;BF130574;BM925724;C18867;CH471052;DA028346;NM_014498;U55853;XM_005247364;XM_005247365;XM_005247366 AAB58419;EAW78564;EAW78565;EAW78566;NP_055313;O00461;XP_005247421;XP_005247422;XP_005247423 Hs.143600 1686454;1758407;2219092 GOLPH4__6634;RH93782;SHGC-148261 GIMPC;GOLPH4;GPP130;P138 130 kDa golgi-localized phosphoprotein;OTTHUMP00000213059;OTTHUMP00000213060;cis Golgi-localized calcium-binding protein;golgi integral membrane protein, cis;golgi phosphoprotein 4;golgi phosphoprotein of 130 kDa;golgi-localized phosphoprotein of 130 kDa;type II Golgi membrane protein APPROVED protein-coding ENSG00000173905 HGNC:15448 08429 606805 REVIEWED 4105865 GOLGA8J golgin A8 family, member J FOUND IN Golgi apparatus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 15 15 q13.2 30375038 30386084 + 30082955 30096701 + 6480464 16344560;16572171;21890473 653073 A6NMD2 ABBA01010409;AC120045;AC243949;AK302171;DB054802;DB098469;NM_001282472;XM_006720651 A6NMD2;BAG63538;NP_001269401;XP_006720714 Hs.574257;Hs.649690 Golgin subfamily A member 8-like protein 3;golgin subfamily A member 8J protein-coding HGNC:38650 VALIDATED 1322921 GOLM1 golgi membrane protein 1 The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Sep 2009] 9 9 9 q21.33 59212998 59287045 - 88629018 88715116 - 86026141 86100201 - 1580863;6480464 10831838;12029628;12133958;12191016;12359426;12477932;12754519;12975309;14702039;15489334;16169070;16303743;16335952;16344560;16502470;16740002;17207965;17662025;17998437;18004786;18029348;18543251;18781151;18953438;19008260;19204163;19291786;19399652;19403029;19460752;19596473;19749441;20379614;20501332;20570408;20574532;20592574;20842452;21223806;21443671;21503570;21663469;21694465;21890473;21900206;22140547;22167654;22542941;22719994;23000965;23144154;23418424;23627036;23742050;23838921;24068434;24186850;24243830;24284362;24313979;24579464;24779292;24816145 51280 B3KNK9;C9J941;C9JYM4;F8WAT9;F8WDK7;Q8NBJ4 ABBA01016302;ABBA01016303;ABBA01016304;ABBA01016305;ABBA01034047;ABBA01034048;ABBA01034049;AF236056;AF460419;AF460486;AI929234;AJ420432;AJ426326;AK027717;AK074188;AK075542;AK075557;AK092943;AL161447;AL533767;AMYH02021148;AMYH02021149;AMYH02021150;AMYH02021151;AMYH02021152;AY358593;BC001740;BQ216766;CA446701;CH471089;CR457201;CS051441;CS300831;DA116177;EU794616;NM_016548;NM_177937 AAF44663;AAH01740;AAM87790;AAM87857;AAQ88956;ACJ13670;ADQ32385;BAB85012;BAC11685;BAG51371;BAG52167;CAD32484;CAG33482;CAI72214;CAK32495;EAW62705;EAW62706;NP_057632;NP_808800;Q8NBJ4 Hs.494337 1655759;1795936;2133641;2184880;5020948;5109281 D1S1425;D9S1015E;D9S1150;G35510;GOLPH2_983;STS-T95873 C9orf155;FLJ22634;FLJ23608;GOLPH2;GP73;HEL46;PSEC0257;bA379P1.3 OTTHUMP00000021582;OTTHUMP00000021583;epididymis luminal protein 46;golgi membrane protein GP73;golgi phosphoprotein 2;golgi protein, 73-kD APPROVED protein-coding ENSG00000135052 HGNC:15451 08428 606804 REVIEWED 1347625 GOLPH3L golgi phosphoprotein 3-like The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 123734457 123785433 - 150618701 150669672 - 150646225 150697196 - 6480464;8554872 11042173;12477932;14702039;16344560;17207965;19322201;20379614;21139048;21906983;23275563;23345592;23383273;23585552;24816145 55204 Q5T5I6;Q9H4A5 ABBA01049351;ABBA01049352;AJ296153;AK001549;AK300635;AK315594;AL356292;AL356356;AMYH02001856;AMYH02001857;AMYH02001858;BC013870;BI550986;BQ130668;BQ268076;CH471121;DA513375;NM_018178;XM_006711428 AAH13870;ADQ31898;BAA91750;BAG37966;BAH13319;CAC13125;EAW53526;EAW53527;NP_060648;Q9H4A5;XP_006711491 Hs.203699 2152649;2219098 GPP34R__6650;WI-17524 FLJ10687;GPP34R GPP34-related protein;OTTHUMP00000032940;OTTHUMP00000032941 APPROVED protein-coding ENSG00000143457 HGNC:24882 17048 612208 REVIEWED 1346868 GOLT1A golgi transport 1A INVOLVED IN protein transport (inferred); vesicle-mediated transport (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH arsenite(3-); benzo[a]pyrene; copper(2+) sulfate 1 1 1 q32.1 177302746 177318675 - 204167288 204183220 - 204198160 204214092 - 737633;6480464 12477932 10406798;14702039;15221005;15489334;16710414;17207965;19536175 127845 Q6ZVE7 AB075871;ABBA01027448;ABBA01027449;AK124645;AL592114;AMYH02002532;AMYH02002533;BC058832;CH471067;NM_198447 AAH58832;ADQ32124;BAC85915;BAD38653;EAW91508;NP_940849;Q6ZVE7 Hs.532401 2163171 SHGC-76186 CGI-141;FLJ42654;GOT1;HMFN1187;MGC62027;RP11-203F10.3;YMR292W;hGOT1b OTTHUMP00000034309;putative protein product of HMFN1187;vesicle transport protein GOT1A APPROVED protein-coding ENSG00000174567 HGNC:24766 13465 PROVISIONAL 1603372 GORAB golgin, RAB6-interacting This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 1 1 1 q24.2 143610894 143632608 + 170501263 170522974 + 170532122 170553833 + 6480464;7240710;8554872;8699517 12477932;12783284;14702039;15489334;15781263;16710414;18029348;18997784;19681135;19951712;20598683;20849854;21832049;21988832 92344 B3KQ87;Q5T7V8;R4GMT2 ABBA01027944;AF143889;AK021814;AK057661;AK308339;AL162399;AMYH02002122;BC035999;BC047476;BC064945;CH471067;NG_012237;NM_001146039;NM_152281;NR_027397;XM_006711628;XM_006711629 AAD32702;AAH47476;AAH64945;BAB13903;BAG51949;EAW90878;EAW90879;EAW90880;NP_001139511;NP_689494;Q5T7V8;XP_006711691;XP_006711692 Hs.183702 5021920;5125425 SHGC-75882;ha3092 FLJ11752;GO;MGC51263;MGC70512;NTKLBP1;SCYL1BP1 N-terminal kinase-like-binding protein 1;NTKL-binding protein 1;OTTHUMP00000033164;OTTHUMP00000033165;RAB6-interacting golgin;SCY1-like 1 binding protein 1;SCY1-like 1-binding protein 1;SCYL1-BP1;SCYL1-binding protein 1;hNTKL-BP1 APPROVED protein-coding ENSG00000120370 HGNC:25676 12144 231070;607983 REVIEWED 1349948 GOLT1B golgi transport 1B ENCODES a protein that exhibits signal transducer activity; INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; signal transduction; FOUND IN endoplasmic reticulum; membrane; INTERACTS WITH copper atom; copper(0); copper(2+) sulfate 12 12 12 p12.1 26810081 26826721 + 21654699 21671337 + 21501765 21518403 + 6480464 10406798;10810093;11230166;11256614;12414650;12477932;12761501;12975309;15489334;16344560;17207965;19322201;19946888;21139048;21890473;21903422;21906983;24816145 51026 F5GWD8;F5GXH6;F5H6U7;G3V1U5;Q9Y3E0 AA910170;AB097020;ABBA01067969;ABBA01067970;ABBA01067971;AC006559;AF068292;AF151899;AK026999;AK309736;AK310889;AK311331;AK311920;AL136571;AMYH02026168;AY358975;BC012455;CH471094;CR457389;DA579356;NM_016072 AAD34136;AAF65181;AAH12455;AAQ89334;ADQ32664;BAC77373;BAG34861;CAB66506;CAG33670;EAW96439;EAW96440;EAW96441;EAW96442;EAW96443;NP_057156;Q9Y3E0 Hs.62275 1655324;1676334;1721333;2158670 G59666;RH44828;RH93879;STS-W19279 CGI-141;GCT2;GOT1;GOT1B;YMR292W;hGOT1a OTTHUMP00000240151;OTTHUMP00000240152;germ cell tumor 2;putative NF-kappa-B-activating protein 470;vesicle transport protein GOT1B APPROVED protein-coding ENSG00000111711 HGNC:20175 13035 615078 VALIDATED 1348402 GORASP1 golgi reassembly stacking protein 1, 65kDa The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 3 p22-p21.33 39078594 39089634 - 39138090 39149854 - 39096599 39108363 - 1580863;6480464 10487747;11050165;11285137;11447294;11706049;11739401;11739402;11781572;11815631;12111718;12477932;12543795;12839990;14702039;15231748;15489334;15576368;15678101;15834132;15888544;16344560;16489344;17207965;19581411;19840934;19913121;20083603;20214750;20360068;20628086;20937827;21368855;21567396;21572988;21757827;21890473;21900206;23552074;24227884;9346242;9628863 64689 B3KPY8;B4E1H8;C9J0V5;C9J5S6;C9J9V9;C9JBH8;C9JI27;F8WD30;G3V0G1;H7C0J2;Q9BQQ3 ABBA01024812;AC138124;AI824080;AJ409349;AK001574;AK027096;AK057043;AK091168;AK124755;AK300271;AK303847;AMYH02006579;AW082955;BC008928;BC064624;BC075854;BC103826;BC103827;BM470731;CH471055;DB031221;NM_001278789;NM_001278790;NM_031899;NR_103866;NR_103867;XM_006713300;XM_006713301;XM_006713302;XR_427284;XR_427285 AAH08928;AAH75854;AAI03827;AAI03828;ADQ31932;BAC03598;BAG51850;BAG54090;BAG62032;BAG64790;CAC35160;EAW64552;EAW64553;EAW64554;EAW64555;EAW64556;EAW64557;EAW64558;EAW64559;EAW64560;NP_001265718;NP_001265719;NP_114105;Q9BQQ3;XP_006713363;XP_006713364;XP_006713365 Hs.721946 1774527;1774529;2112698;2115792;2126380;2141008;2141959;2141961;2153718;2163554;2191199;2219094 A001Z36;A006D28;D3S2482;D3S4409;G19825;G20726;GORASP1__6636;MARC_16103-16104:1018028206:1;RH12775;SHGC-30045;SHGC-30755;SHGC-76850 FLJ23443;GOLPH5;GRASP65;MGC118894;MGC118897;P65 Golgi peripheral membrane protein p65;Golgi phosphoprotein 5;Golgi reassembly and stacking protein 1;Golgi reassembly and stacking protein, 65 kDa;Golgi reassembly-stacking protein 1;OTTHUMP00000161966;OTTHUMP00000208958;OTTHUMP00000208961;golgi reassembly-stacking protein of 65 kDa APPROVED protein-coding ENSG00000114745 HGNC:16769 06038 606867 REVIEWED 1319891 GOPC golgi-associated PDZ and coiled-coil motif containing This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 6 6 6 q21 118624329 118666606 - 117881432 117923705 - 117560269 117602542 - 1580863;6480464;7240710;8699517 11162552;11384996;11520064;11707463;12149515;12372286;12471024;12477932;12538861;12661006;12885772;14570915;14574404;15144186;15317815;15358775;15489334;15546864;15951434;16012170;16189514;16192284;16316992;16344560;16646955;16882988;17158866;17207965;18029348;18468998;18754678;19071123;19860857;20130090;20195357;21105033;21110914;21543871;21906983;21988832;22863883;22939629;23266556;23545662;23818989;23966943;24154728;24210758;24250222;24722188;9843494 57120 F5H1Y4;Q9HD26 AB209385;ABBA01026037;ABBA01026038;AF287894;AF450008;AJ420540;AK025074;AK314486;AL589939;AMYH02014360;AY033606;BC009553;BX419592;CH471051;DA109449;KF420122;KF420123;NM_001017408;NM_020399;Z85999 AAG00572;AAH09553;AAK57733;AAL47160;ADQ31799;AGU13713;AGU13714;BAD92622;EAW48204;EAW48205;NP_001017408;NP_065132;Q9HD26 Hs.191539 1650085;1653442;1721401;1849051;1849053;2115875;2129434;2160818 A005S47;AL022535;G20471;G59552;HSC1FH112;RH46698;RH47666;RH68126 CAL;FIG;GOPC1;PIST;dJ94G16.2 CFTR-associated ligand;Golgi associated PDZ and coiled-coil motif containing protein;Golgi-associated PDZ and coiled-coil motif-containing protein;OTTHUMP00000017087;OTTHUMP00000017088;PDZ protein interacting specifically with TC10;PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10;dJ94G16.2 PIST;fused in glioblastoma;golgi-associated PDZ and coiled-coil motif containing protein APPROVED protein-coding ENSG00000047932 HGNC:17643 06024 102530;606845 VALIDATED 1606548 GON4L gon-4-like (C. elegans) ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; 2-methylcholine; amiodarone 1 1 1 q22 128792451 128899881 - 155719450 155829185 - 155749658 155859400 - 6480464;8554872 10997877;11230166;12477932;14702039;15146197;15489334;16545939;16710414;17285227;17297563;17370265;18029348;19471022;20379614;21139048;21454521;21693764;21963094;22939629;24250222;8125298 54856 A4PB67;A4PB68;Q14BN2;Q3T8J9;Q6PHZ4;Q9H986 AB046826;AB195687;AB195688;AB232668;ABBA01016682;ABBA01016683;ABBA01016684;ABBA01016685;ABBA01016686;ABBA01016687;AI476308;AK000210;AK022985;AK026693;AK098734;AK222851;AK315191;AL136565;AL139128;AL162734;AMYH02001952;AMYH02001953;AMYH02001954;AMYH02001955;AMYH02001956;AY335490;AY335491;AY335492;BC036740;BC052260;BC064933;BC071650;BC114629;BC115703;BC117557;BX537764;BX648043;BX648802;CH471121;CN391065;NM_001282856;NM_001282858;NM_001282860;NM_001282861;NM_032292;XM_005245283;XM_005245284;XM_005245286;XM_006711393;XM_006711394;XM_006711395;XM_006711396 AAH36740;AAH52260;AAH64933;AAH71650;AAI14630;AAI15704;AAI17558;AAR01260;AAR01261;AAR01262;BAA91011;BAB13432;BAB14347;BAB15528;BAC05397;BAD96571;BAF51556;BAF51557;BAF51560;BAG37631;CAB66500;CAD97829;CAH10549;EAW53029;EAW53030;EAW53031;EAW53032;EAW53033;EAW53034;EAW53035;EAW53036;NP_001269785;NP_001269787;NP_001269789;NP_001269790;NP_115668;Q3T8J9;XP_005245340;XP_005245341;XP_005245343;XP_006711456;XP_006711457;XP_006711458;XP_006711459 Hs.656361 1669363;1672034;1686522;1723955;1851929;2132041;5015619;5015959;5022578;5037552 Cda1fe10;D10S2448;D11S3114;D1S1423;D8S2279;G34868;RH119632;RH12479;RH16489;WI-16155 DKFZp761I241;FLJ12923;FLJ20203;FLJ23040;GON-4;GON4;KIAA1606;MGC138817;MGC138818;RP11-101O6.1;RP11-243J18.4;YARP 2610100B20Rik;GON-4-like protein;OTTHUMP00000015935;OTTHUMP00000208356;OTTHUMP00000208357;YY1AP-related protein1;gon-4 homolog protein-coding ENSG00000116580 HGNC:25973 13370 610393 VALIDATED 1312882 GOLGA7B golgin A7 family, member B FOUND IN Golgi apparatus (inferred); membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); cadmium dichloride (ortholog) 10 10 10 q24.2 93347272 93365058 + 99609995 99631335 + 97850238 97871578 + 6480464 12477932;15164054;15489334;8889548 401647 Q2TAP0;Q6ZUQ1 ABBA01021786;ABBA01021787;AK125454;AL358938;AMYH02023613;AW172573;BC008047;BC020255;BC110810;BI754792;BM713854;BQ950672;CA308047;CH471066;DN831741;NM_001010917 AAI10811;BAC86168;EAW49893;NP_001010917;Q2TAP0 Hs.567524 1706040;1736080;1736130;2109195;5127451 CRTAC1_9876;D10S1353E;D10S1393E;D10S2197;SHGC-78664 C10orf132;C10orf133;FLJ43465;MGC131701;bA451M19.3;bA459F3.4 Golgin subfamily A member 7B;OTTHUMP00000020232;golgi autoantigen, golgin subfamily a, 7B;golgi autoantigen-like APPROVED protein-coding ENSG00000155265 HGNC:31668 16579 614189 VALIDATED 737606 GOSR1 golgi SNAP receptor complex member 1 This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q11 25665931 25715342 + 28804426 28853832 + 30477408 30526814 + 70749;1298632;1580863;6480464;8554872 8638159;9653160 10198168;10747018;11042152;11927603;12121660;12388752;12477932;14702039;15004235;15215310;15489334;16571679;19946888;20562859;20700730;21139048;21669198;21832049;21890473;21906983;22397410;22939629;23387339;25015289;8636227;9094723;9325254;9647643 9527 B4DQA8;E9PCW1;F6RU00;G5E9T8;K7EJC8;O95249 ABBA01015000;ABBA01015001;AC006050;AC011840;AF047438;AF073926;AF229797;AK000606;AK074298;AK128816;AK291381;AK298714;AL049346;AMYH02033274;AMYH02033275;BC012620;BC040072;BC040471;BE785872;BG654545;CB054624;CH471159;NM_001007024;NM_001007025;NM_004871;XM_005258070;XM_005258071;XM_005258072 AAC39889;AAD12945;AAH12620;AAH40471;AAK01856;BAF84070;BAG60870;EAW51229;EAW51230;EAW51231;NP_001007025;NP_001007026;NP_004862;O95249;XP_005258127;XP_005258128;XP_005258129 Hs.462680 1659585;1683799;1686652;1724797;1754405;2141509;2168600;2176349;5015619;5016478;5016596;5022651;5037552;5037670 D11S2921;D11S3114;D17S2120;D3S4354;D8S2279;GDB:434012;GDB:631802;RH122605;RH65670;RH91424;SHGC-132420;SHGC-31113;SHGC-33031;SHGC-33050 GOLIM2;GOS-28;GOS28;GOS28/P28;GS28;P28 28 kDa Golgi SNARE protein;28 kDa cis-Golgi SNARE p28;Golgi SNARE 28 kDa;OTTHUMP00000163683;cis-golgi SNARE;golgi integral membrane protein 2 APPROVED protein-coding ENSG00000108587 HGNC:4430 604026 REVIEWED 735827 GOT1 glutamic-oxaloacetic transaminase 1, soluble Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008] 10 10 10 q24.1-q25.1 94893454 94927360 - 101156627 101190530 - 99396870 99430773 - 1580863;1300048;2302802;6480464;6907045 2966075 10360399;12477932;12480555;15164054;15306699;15489334;16169070;16344560;16681433;17623298;17877759;17907318;18242760;18752324;19012630;19056867;19370784;19393479;1974457;20029029;20201926;20205615;20499337;20972737;21139048;21750724;2182221;21900944;21906983;21963094;21988832;22132177;22242166;2225456;22352690;22412388;2241899;225064;22863883;23667618;24124411;24816145;2731362;2777255;3207426;6391741;6397370;7060339;8349677;8396422;8619474;9110174 2805 B7Z1I2;P17174 ABBA01063248;ABBA01063249;ABBA01063250;AF052153;AF080467;AK293483;AK301916;AK309174;AK312684;AL391684;AMYH02023635;AY513279;BC000498;CH471066;DA581933;EB387028;HB922155;HC979564;M37400;NG_032044;NM_002079 AAA35563;AAC28622;AAC32851;AAH00498;AAT08032;BAG35564;BAH11518;BAH13585;CBF96059;CBV09579;EAW49868;EAW49869;NP_002070;P17174 Hs.500756 1651588;1736036;1742237;1767099;2132754;2190825 D10S1309E;D10S2167;D10S2414;GDB:193865;GOT1;RH47701 ASTQTL1;GIG18;cCAT OTTHUMP00000020254;aspartate aminotransferase 1;aspartate aminotransferase, cytoplasmic;aspartate transaminase 1;cAspAT;cysteine aminotransferase, cytoplasmic;cysteine transaminase, cytoplasmic;glutamate oxaloacetate transaminase 1;growth-inhibiting protein 18;transaminase A APPROVED protein-coding ENSG00000120053 HGNC:4432 00687 138180;614419 REVIEWED 1351894 GOLGB1 golgin B1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN Golgi organization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum-Golgi intermediate compartment; Golgi apparatus; membrane; INTERACTS WITH clorgyline; cobalt dichloride; cyclosporin A 3 3 3 q13 119792012 119878526 - 121382046 121468662 - 121663199 121750735 - 1580863;6480464;8554872 10744704;10931861;11035033;11590181;11927603;12429822;12477932;14702039;14718574;14980500;15004235;15231748;15308636;15342556;15718469;16169070;17475246;18029348;18487259;18685082;19946888;20682791;20936779;21139048;21697133;21906983;22053931;22558309;22939629;23422753;23555793;24046448;24816145;7691276;7802676;8198703;8889549;9490716 2804 C9J8Q0;E7EU81;F1T0J2;F8WF12;H0Y867;H7C5I7;Q14789 AA127633;AB371588;AB593126;ABBA01016478;ABBA01016479;ABBA01016480;AC119736;AC133750;AK094551;AK296903;AK298986;AK300437;AMYH02007530;AMYH02007531;AMYH02007532;AMYH02007533;BC065301;BF061034;BM475510;BP320001;BX537520;CH471052;D25542;NM_001256486;NM_001256487;NM_001256488;NM_004487;X75304;XM_005247371;XM_005247372;XM_005247373;XM_006713587;XM_006713588;XM_006713589;XM_006713590;XM_006713591 BAA05025;BAG48317;BAG59460;BAG61079;BAG62161;BAJ84066;CAA53052;EAW79502;EAW79503;EAW79504;NP_001243415;NP_001243416;NP_001243417;NP_004478;Q14789;XP_005247428;XP_005247429;XP_005247430;XP_006713650;XP_006713651;XP_006713652;XP_006713653;XP_006713654 Hs.213389;Hs.741209 1652310;1674107;1689023;1722035;1723997;1728953;1775082;1794414;2142518;2149484;2155976;2171603;2171605;2183837;2190513 A001X20;D10Bir6;D3S3940;EST13C8;G19747;G59904;IB1423;PMC311069P7;RH118950;RH69909;RH91267;SHGC-37473;STS-X75304;WI-22003;WIAF-2081 DKFZp686F09142;FLJ37232;GCP;GCP372;GOLIM1 372 kDa Golgi complex-associated protein;Golgin subfamily B member 1;OTTHUMP00000215187;OTTHUMP00000215188;giantin;golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1;golgi integral membrane protein 1;golgin B1, golgi integral membrane protein;macrogolgin APPROVED protein-coding ENSG00000173230 HGNC:4429 03933 602500 VALIDATED 731739 GOSR2 golgi SNAP receptor complex member 2 This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21 41450000 41468246 + 45000486 45044366 + 46923120 46967000 + 68203;1580863;6480464;6484113;8699517;7240710;8554872 9349823 10198168;10903204;11035026;11927603;12477932;15489334;15781476;16341674;18187620;19057520;19584346;19946888;20379614;21076409;21139048;21549339;21832049;21909110;21909115;23313660;23387339;23449775;23675987;24458321;9094723;9647643 9570 E7EQ34;I3L0K1;I3L1K7;I3L3V4;I3L4Z6;I3NI02;O14653 ABBA01041106;AC005670;AF007548;AF229796;AK290890;AMYH02033514;BC009710;BC034762;BM846811;CH471231;NG_031806;NM_001012511;NM_004287;NM_054022;XM_005257843;XM_005257844;XM_005257845;XM_006722188;XM_006722189;XM_006722190;XM_006722191;XM_006722192 AAB82651;AAH09710;AAH34762;AAK01855;ABM82387;ABM85564;BAF83579;EAW57694;EAW57695;EAW57696;EAW57697;EAW57698;EAW57699;EAW57700;NP_001012529;NP_004278;NP_473363;O14653;XP_005257900;XP_005257901;XP_005257902;XP_006722251;XP_006722252;XP_006722253;XP_006722254;XP_006722255 Hs.463278 1665069;2129614;2134073;5024179 RH70724;SHGC-63525;STS-W44434;WI-15652 Bos1;EPM6;GS27 27 kDa Golgi SNARE protein;membrin APPROVED protein-coding ENSG00000108433 HGNC:4431 04937 604027;614018 REVIEWED 1344778 GOT2P2 glutamic-oxaloacetic transaminase 2 pseudogene 2 1 1 1 q25.1 146219503 146220975 - 173110039 173111511 - 173140700 173142372 - 391139 ABBA01027910;AL022310;AMYH02002152;NG_008831 1702160 GDB:451676 GOT2L2 APPROVED pseudo HGNC:4435 INFERRED 1602185 GOT1L1 glutamic-oxaloacetic transaminase 1-like 1 ENCODES a protein that exhibits pyridoxal phosphate binding (inferred); transaminase activity (inferred); INVOLVED IN biosynthetic process (inferred); cellular amino acid metabolic process (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 2,4,6-trinitrobenzenesulfonic acid (ortholog); 6-propyl-2-thiouracil (ortholog) 8 8 8 p11.23 36743506 36749358 - 37791799 37797664 - 37934281 37940146 - 6480464 12477932;17494625;22360420;22952844 137362 E5RI59;E5RJX9;Q8NHS2 ABBA01023564;AC130304;AMYH02017819;BC029504;BM559469;CH471080;FJ695190;HC902758;HC914859;NM_152413;XM_005273399;XM_006716285 AAH29504;CBN65834;CBN71667;EAW63345;EAW63346;NP_689626;Q8NHS2;XP_005273456;XP_006716348 Hs.380740 5112157 RH102015 MGC33309 OTTHUMP00000225620;glutamate oxaloacetate transaminase 1-like protein 1;putative aspartate aminotransferase, cytoplasmic 2;transaminase A-like protein 1 protein-coding ENSG00000169154 HGNC:28487 14558 VALIDATED 736034 GORASP2 golgi reassembly stacking protein 2, 55kDa This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 2 2 2 q31.1 165402395 165440322 + 171784948 171823645 + 170928438 170967135 + 632865;6480464 10487747 11101516;11408587;11739401;11739402;11815631;12477932;14702039;15489334;16189514;16501559;16713569;16964243;17081983;18029348;18385516;18434598;18976975;19361449;19734545;19840934;20083603;20608975;21139048;21235525;21832049;21900206;21988832;22863883;22939629;23552074;24227884;8125298 26003 B4DNR1;F8WBR9;F8WEG2;F8WEH9;F8WF79;Q9H8Y8 ABBA01014921;AC010092;AI052563;AK023082;AK023201;AK027202;AK027349;AK125761;AK225810;AK293640;AK296698;AK298020;AK298771;AK315508;AL117430;AMYH02005214;AMYH02005215;BC001408;BC007770;BG034906;BQ004408;CH471058;DC399516;NM_001201428;NM_015530;XM_006712408 AAH07770;AAY15076;ABM83641;ABM86891;BAB14395;BAB14459;BAB55054;BAG57095;BAG59292;BAG60323;BAG60913;CAB55919;EAX11225;EAX11226;EAX11227;NP_001188357;NP_056345;Q9H8Y8;XP_006712471 Hs.431317 1768305;1856302;2130464;2144606;2144608;5119150 A005Y03;D2S1957E;D2S2857;G20588;NIB308;WI-16146 DKFZp434D156;FLJ13139;GOLPH6;GRASP55;GRS2;p59 Golgi reassembly-stacking protein 2;OTTHUMP00000204996;golgi phosphoprotein 6;golgi reassembly stacking protein 2;golgi reassembly-stacking protein of 55 kDa APPROVED protein-coding ENSG00000115806 HGNC:17500 08303 608693 REVIEWED 734091 GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] 16 16 16 q21 43241839 43268969 - 58741035 58768246 - 58707131 58734357 - 1580863;1300048;2302802;6480464;6907045;8554872 2966075 12477932;12601813;14702039;15489334;16169070;16212419;17353931;17442055;17728674;17877759;18781797;19305408;19834535;20360068;20877624;21081666;21139048;21223598;21319273;2182221;21890473;21900206;21906983;21963094;22713574;23000965;24583282;24654937;24816145;2567216;2731362;2777255;2899080;3207426;376500;3997814;4052435;5450376;6397370;6930651;7114792;7225087;752471;7559589;8125298;8349677;9537447 2806 H3BRE7;P00505 ABBA01025314;ABBA01025315;AC012183;AK098313;AK223271;AK290847;AK295993;AK302249;AK307598;AL516773;AMYH02032132;AMYH02032133;AMYH02032134;BC000525;BI667777;CH471092;DB485399;M22632;NM_001286220;NM_002080 AAA35568;AAH00525;ABM82809;ABM85994;BAD96991;BAF83536;BAG53610;BAG58768;BAG63601;EAW82988;EAW82989;NP_001273149;NP_002071;P00505 Hs.599470 1702160;1730303;1736554;1847232 D16S2550E;D16S3316;D16S427E;GDB:451676 FABP-1;FABPpm;FLJ40994;KAT4;KATIV OTTHUMP00000165254;aspartate aminotransferase 2;aspartate aminotransferase, mitochondrial;aspartate transaminase 2;fatty acid-binding protein;glutamate oxaloacetate transaminase 2;glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2);kynurenine aminotransferase 4;kynurenine aminotransferase IV;kynurenine--oxoglutarate transaminase 4;kynurenine--oxoglutarate transaminase IV;mAspAT;mitAAT;plasma membrane-associated fatty acid-binding protein;transaminase A APPROVED protein-coding ENSG00000125166 HGNC:4433 00684 138150 REVIEWED 1345881 GP1BB glycoprotein Ib (platelet), beta polypeptide Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010] 22 22 22 q11.21 3563179 3564410 + 19711066 19712297 + 19723543 19724774 + 1580863;1580446;6480464;6907045;7240710;8699517;8554872 11487006 10429193;10627461;10887115;10887121;11812775;11816713;11816714;11943773;12036872;12361948;12463594;12477932;12522011;12529755;12648286;12665801;12855811;12860973;12871509;12958615;15213102;15477207;17597992;17922811;18064328;18637125;18674540;18752571;18825380;1939645;19484238;19566547;19570064;20667040;20946164;21037087;21507943;21529934;21699652;21908432;22343686;23566026;23725790;23929303;23995613;2504723;2557900;3161731;3353370;3632685;4044584;7690959;7782333;8021244;8034572;8200976;8467233;8608228;8703016;9022087;9116284;9425086;9454760;9611266 2812 P13224 AB086231;ABBA01005406;AC000093;AF006988;AMYH02038048;HI552219;J03259;JB767215;NG_007974;NM_000407 AAA52594;AAC39781;AAI60146;BAC00777;CBX54455;CDI44162;NP_000398;P13224 Hs.283743 1686022;2106571;2114032;5493771 AB056419;PNUTL1__5740;RH15728;UniSTS:494724 BDPLT1;BS;CD42c;GP-Ib beta;GPIBB;GPIb-beta OTTHUMP00000197415;antigen CD42b-beta;nuclear localization signal deleted in velocardiofacial syndrome;platelet glycoprotein Ib beta chain APPROVED protein-coding HGNC:4440 00729 138720;231200 REVIEWED 1347290 GOT2P1 glutamic-oxaloacetic transaminase 2 pseudogene 1 1 1 1 p32.3 54122369 54123678 + 55833138 55834447 + 55367465 55368774 + 645538 ABBA01074696;AL049710;AMYH02001068;NG_008826 GOT2L1 APPROVED pseudo HGNC:4434 INFERRED 736629 GP5 glycoprotein V (platelet) Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010] 3 3 3 q29 192530959 192535404 - 194115550 194119995 - 194394821 194399266 - 1580863;1580446;6480464;6907045;8554872 11487006 10429193;10887121;11686325;12855811;15477207;15691827;16179345;16263699;1730602;18450753;18612104;1939645;19874464;19913121;20379614;20628086;21529934;2350580;2372284;23929303;7690959;7782333;7900083;8407908;8467233;8519770;8608228;9129030;9269768;9326233;9425086;9616133 2814 P40197 ABBA01001628;AC125362;AMYH02008452;CH471052;GU138099;HI552221;JB767217;L11238;NM_004488;Z23091 AAA03069;AAI52811;ACZ44929;CAA80637;CBX54456;CDI44163;EAW78053;NP_004479;P40197 Hs.73734 1772501;1849963 RH17612;SHGC-35238 CD42d;GPV OTTHUMP00000197119;glycoprotein 5;platelet glycoprotein V APPROVED protein-coding HGNC:4443 01431 173511 VALIDATED 3436159 GOT2P5 glutamic-oxaloacetic transaminase 2 pseudogene 5 Y Y Y 2509753 2510306 - 6705740 6706293 + 6837699 6838252 + 100422625 ABBA01034872;AC013412;NG_021934 GOT2Y pseudo HGNC:38439 INFERRED 3007026 GOT2P4 glutamic-oxaloacetic transaminase 2 pseudogene 4 12 12 12 p12.3 21810049 21811579 + 16666274 16667804 + 16513340 16514870 + 121520 ABBA01067905;AC007552;AMYH02026107;NG_008829 GOT2L4 pseudo HGNC:22936 INFERRED 1351167 GP9 glycoprotein IX (platelet) This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008] 3 3 3 q21.3 127211950 127213558 + 128775459 128781254 + 129056617 129062411 + 1599275;1580863;1580446;6480464;6907045;7240710;8699517 11487006;8481514 10429193;10583255;10887121;11167791;11686325;11758225;11812775;12036872;12100158;12361948;12447957;12463594;12477932;12665801;12855811;14510954;15351858;15477207;17192395;17474147;17763149;17804902;17922811;18057877;18450753;18612104;18638089;18674540;19060904;19377075;1939645;19404517;19558434;19566547;19874464;21507943;21529934;21699652;21908432;2253772;23088713;23143686;23929303;23995613;2436691;2557900;2771955;3056407;7782333;8049428;8429020;8467233;8608228;8811076;9163595;9184424;9269768;9432024;9886312 2815 O43705;P14770 AA701315;ABBA01020921;ABBA01020922;AC108673;AMYH02007629;BC030229;BM971739;CH471052;D88290;D89621;HI552223;JB767219;M25827;M80478;NG_008715;NM_000174;X52997;XM_005247374 AAA36809;AAB40042;AAH30229;ABM84263;ABM87654;BAA13580;BAA24428;CAA37186;CBX54457;CDI44164;EAW79285;NP_000165;P14770;XP_005247431 Hs.1144 2107173 GP9__7532 CD42a;GP-IX;GPIX OTTHUMP00000217111;glycoprotein 9;platelet glycoprotein IX APPROVED protein-coding ENSG00000169704 HGNC:4444 01432 173515;231200 REVIEWED 1351834 GOT2P3 glutamic-oxaloacetic transaminase 2 pseudogene 3 12 12 12 p13.31 14955684 14957225 + 9794266 9795807 + 9641670 9643211 + 644138 ABBA01067793;AC010186;AMYH02026017;NG_008820 GOT2L3;GOT2L3P APPROVED pseudo HGNC:4436 INFERRED 1321026 GP1BA glycoprotein Ib (platelet), alpha polypeptide Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013] 17 17 17 p13.2 4850477 4853133 + 4835312 4838325 + 4932297 4935030 + 1580432;1580433;1580444;1580446;1580863;6480464;6907045;7240710;7242688;7242686;8554872;8699517 11487006;12185480;14592833;15269835;21411989;7690774 10089893;10391209;10429193;10499919;10627461;10801853;10887121;10899906;11024046;11159511;11167769;11222377;11260063;11307841;11418460;11437595;11514372;11583876;11686325;11698306;11700320;11739968;11751671;11776304;11776327;11812775;11858495;11858499;11859854;11937271;11943773;11981108;11994555;12036871;12036879;12038791;12070018;12073410;12082590;12087105;12091342;12183630;12362242;12393736;12463594;12477932;12499711;12522011;12590614;12637314;12665801;12719784;12724616;12791664;12855810;12855811;12871418;12871600;12881531;12952972;14521605;14521606;14639140;14675395;14711733;14961148;14968555;15039442;15045135;15054037;15166939;15249683;15297306;15311155;15317813;15319289;15346842;15355504;15375170;15386532;15477207;15489334;15501784;15512545;15546585;15564935;1577776;15841318;1586750;15892865;15933060;15978109;16118501;16179345;16260637;16263699;16373331;16723382;16774914;16806233;16986133;1702906;17029210;17083647;17096706;17100656;17105818;17143557;17192395;17196570;17261793;1730088;17303802;1730602;17346829;17379771;17408410;17414217;17494758;17597992;17598011;17619827;17630485;17634946;17728329;17763149;17786291;17873907;17922811;17962622;18057877;18225582;18260892;18283530;18339097;18383324;18403734;18417193;18450753;18489431;18502778;18528467;18550847;18612104;18674540;18725999;18791947;18792563;18815197;18848323;19002047;19008959;19017648;19067792;19082798;19110485;19132198;19181367;19250145;19336370;19388931;1939645;19420105;19443707;19448529;19515580;19558434;19562259;19570064;19578796;19591434;19619477;19656281;19702628;19718474;19726719;19729601;19740098;19751194;19778317;19820200;19840363;19913121;19948007;20063990;20076847;20139978;20149160;20153024;20157117;20158380;20161734;20216992;20227257;20367574;20452482;20472470;20498367;20520840;2052556;20532885;20628086;20667040;20673868;20696943;2070794;20725043;20735720;21156842;21507943;21529934;21552524;21602602;21699652;21933849;21988832;21993687;22102188;22139419;22174152;22196864;22517896;22922961;23014764;23143686;23300803;23414566;23611001;23688555;23750933;23771674;23902764;23929303;23934752;23995613;24051142;24062306;24316004;2436691;24391089;24504734;24749250;2557900;2628181;2845978;2933256;2946332;3303030;3353370;3497398;3759960;6336654;7632942;7690959;7721887;7819107;7873390;8384898;8400294;8467233;8486780;8608228;8631758;9088113;9092683;9269768;9410473;9425086;9454760;9639514;9651345 2811 P07359 AB038516;AB086948;AB576651;AB576652;AB576653;AB576654;AB576655;ABBA01054784;AC109333;AC233723;AF395009;AM709890;AMYH02032837;BC027955;BE463855;CH471108;D85894;GU133003;J02940;KC120774;L39103;M22403;NG_008767;NM_000173;S34436;S34439 AAA52595;AAA52596;AAA69491;AAB22152;AAB22153;AAH27955;AAK71325;ABM81869;ABM85031;ACY72565;AGC54780;BAA12911;BAB12038;BAC10305;BAJ15417;BAJ15418;BAJ15419;BAJ15420;BAJ15421;CAM97225;EAW90393;NP_000164;P07359 Hs.1472 1777848;1792964;2115388 D17S1969;PMC17834P1;STS-J02940 BDPLT1;BDPLT3;BSS;CD42B;CD42b-alpha;DBPLT3;GP-Ib alpha;GP1B;GPIb-alpha;MGC34595;VWDP GPIbA;antigen CD42b-alpha;glycoprotein Ibalpha;platelet glycoprotein Ib alpha chain;platelet membrane glycoprotein 1b-alpha subunit APPROVED protein-coding ENSG00000185245 HGNC:4439 01976 153670;177820;231200;258660;606672 REVIEWED 1353728 GPAA1 glycosylphosphatidylinositol anchor attachment 1 Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 141475157 141478683 + 145137064 145141119 + 144082621 144086216 + 1580863;6480464;6907045 10393431;10793132;11483512;12052837;12477932;12582175;12802054;14660601;15489334;15713669;16169070;16642471;18028549;1846368;19946888;21139048;21886157;21890473;21906983;22505724;22939629;23000965;24250222;24816145;9468317;9828142 8733 E9PLG8;E9PLV6;E9PM11;E9PM94;E9PPZ9;E9PQ31;O43292 AB002135;AB002137;AB006969;AB017267;ABBA01005225;AC109322;AK312759;AL157437;AMYH02018955;BC003171;BC004129;BC006383;CH471162;CQ834368;NM_003801 AAH03171;AAH04129;AAH06383;ABM85965;ABW03763;BAA24035;BAA82587;BAA82588;BAA82590;BAG35625;CAB75660;CAH05399;EAW82161;EAW82162;EAW82163;EAW82164;EAW82165;NP_003792;O43292 Hs.627962 1735742;5127633 D8S1358E;RH47058 GAA1;hGAA1 GAA1 protein homolog;GPAA1P anchor attachment protein 1 homolog;GPI anchor attachment protein 1;GPI transamidase subunit;OTTHUMP00000229757;OTTHUMP00000229760;anchor attachment protein 1 (Gaa1p, yeast) homolog;glycophosphatidylinositol anchor attachment 1;glycosylphosphatidylinositol anchor attachment 1 protein;glycosylphosphatidylinositol anchor attachment protein 1 homolog;gpaa1p anchor attachment protein 1 homolog (yeast) APPROVED protein-coding ENSG00000197858 HGNC:4446 04334 603048 REVIEWED 737446 GP2 glycoprotein 2 (zymogen granule membrane) ENCODES a protein that exhibits antigen binding (inferred); INVOLVED IN antigen transcytosis by M cells in mucosal-associated lymphoid tissue (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH hydralazine; valproic acid; 3,3',4,4'-tetrachlorobiphenyl (ortholog) 16 16 16 p12 19470986 19488017 - 20320896 20339684 - 20309574 20328362 - 1580863;6480464;8554872 10760606;11039464;11853552;12324456;12477932;1284286;1531535;16000323;1651706;18029348;19627615;19907495;19919903;19959969;2011597;20335779;20383146;2076702;20964870;21190681;21988832;22344219;22891285;23118780;7503984;7519402;8666297;9605860 2813 B7Z1G2;I3L2Z7;I3L324;I3L3I2;I3L486;I3L4Y3;P55259;Q8N1A3 AB035541;AB035542;AB135541;AB135542;ABBA01028278;AC106796;AK293384;AK312277;AMYH02031661;BC032693;BG661274;BX646730;BX647831;BX648023;BX648201;BX649067;CH471186;CR749600;D38225;NM_001007240;NM_001007241;NM_001007242;NM_001502;U36221;XM_005255259;XM_005255261;XR_429676 AAB19240;AAH32693;BAA07400;BAA88166;BAA88167;BAG35207;BAH11498;CAH18396;EAW50310;EAW50311;EAW50312;EAW50313;NP_001007241;NP_001007242;NP_001007243;NP_001493;P55259;XP_005255316;XP_005255318 Hs.53985 1776392;2110431 GP2__7529;RH70614 DKFZp779K0533;ZAP75 OTTHUMP00000162214;pancreatic secretory granule membrane major glycoprotein GP2;pancreatic zymogen granule membrane associated protein GP2;pancreatic zymogen granule membrane protein GP-2 protein-coding ENSG00000169347 HGNC:4441 04279 602977 VALIDATED 1315484 GPA33 glycoprotein A33 (transmembrane) The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq, Jul 2008] 1 1 1 q24.1 140127216 140164992 - 167022082 167059868 - 167052845 167090631 - 1580863;6480464;8554872 11487543;12114523;12477932;12853980;15489334;17207965;17227111;18236042;19064610;19460752;19536175;20379614;21044950;22623777;22623782;23230278;23294608;23898208;24324551;9012807;9245713;9542130 10223 E9PMB2;Q99795 ABBA01047253;AK312833;AL158837;AMYH02002081;AMYH02002082;BC069705;BC069723;BC069745;BC069761;BC069789;BC074830;BC074876;BC107164;BC107165;CH471067;NM_005814;U79725 AAC50957;AAH69705;AAH69723;AAH69745;AAH69761;AAH69789;AAH74830;AAH74876;AAI07165;AAI07166;ADQ31934;BAG35687;EAW90783;NP_005805;Q99795 Hs.651244 1692558;1699962;2107175;2150236 AL033926;GPA33__7533;RH103589;SHGC-53101 A33;MGC129986;MGC129987 OTTHUMP00000032346;cell surface A33 antigen;transmembrane glycoprotein A33 APPROVED protein-coding ENSG00000143167 HGNC:4445 03704 602171 REVIEWED 1343427 GP6 glycoprotein VI (platelet) This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 19 19 19 q13.4 52564628 52589432 - 55525073 55549632 - 55013705 55038264 - 1580863;6480464;6907045;7242710;8699517;8554872;7240710 20651232 10506151;10822077;10825177;10961879;11027634;11825911;11943772;11964287;11990697;12010829;12049640;12356768;12359731;12362238;12377757;12477932;12560230;12594225;12649139;12847105;12850831;12871331;12871362;14504096;14563646;14656994;15057824;15142951;15203711;15203713;15231520;15265786;15277394;15280902;15306180;15308568;15339851;15456756;15466473;15489334;15507524;15701717;15701720;15841318;15886326;15923400;15939050;15946524;16014566;16080811;16102042;16113793;16219796;16405521;16493486;16706959;16847120;16861347;16876821;16956881;17068334;17085439;17096705;17105818;17110603;1715582;17663743;17764536;17848620;17958751;18064326;18382762;18419742;18431526;18528467;18569861;18795891;18848323;18955485;18983487;19030108;19065783;19132198;19164598;19190951;19209849;19228693;19235048;19278955;19336370;19420105;19465689;19530321;19549989;19578796;19583823;19622836;19630798;19700402;19740098;19786296;19815551;19850043;19913121;20002543;20007810;20040043;20071043;20110505;20122713;20162250;20227257;20237496;20351310;20367574;20379614;20400514;20414836;20522022;20526338;20585042;20628086;20691446;20713462;20723025;20723028;20828795;20946164;21193745;21252089;21552524;21718237;22114104;22155453;22238212;22274761;22431567;22489915;22773837;22821001;22901851;23132859;23168074;23185356;23619296;23640496;23739280;23784669;23815599;24106269;24126767;2808700;8617742;9028946;9153205;9280292;9295288 51206 K7EIW7;Q9HCN6 AB035073;AB043819;AB043820;AB043821;AB043943;ABBA01068132;ABBA01068133;ABBA01068134;ABBA01068135;AC011476;AF521646;AMYH02036449;AMYH02036450;BC069485;BC104832;BC111963;BQ216894;CH471135;NG_031963;NM_001083899;NM_001256017;NM_016363 AAI04833;AAI11964;AAN86273;BAA89353;BAB12245;BAB12246;BAB12247;BAB12248;EAW72324;EAW72325;EAW72326;NP_001077368;NP_001242946;NP_057447;Q9HCN6 Hs.661752 1336474;5016781;7185367 D19S418;SHGC-67307 BDPLT11;GPIV;GPVI;MGC138168 OTTHUMP00000216288;OTTHUMP00000216289;OTTHUMP00000216290;glycoprotein 6;platelet collagen receptor;platelet glycoprotein VI APPROVED protein-coding ENSG00000088053 HGNC:14388 10406 605546;614201 REVIEWED 1601718 GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial ENCODES a protein that exhibits glycerol-3-phosphate O-acyltransferase activity (ortholog); INVOLVED IN glycerol-3-phosphate metabolic process (ortholog); triglyceride biosynthetic process (ortholog); PARTICIPATES IN glycerophospholipid metabolic pathway; FOUND IN mitochondrion (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); bisphenol A (ortholog); dioxygen (ortholog) 2 2 2 q11.1 91128633 91141666 - 96687694 96701722 - 96021946 96035245 - 6480464;6907045 12477932;16344560;17689486;18658143;18976975;21906983 150763 C9JYV5;E9PE95;Q6NUI2 ABBA01030081;AC013272;AK122580;AK122734;AK131194;AK131197;AK298131;AK302887;AK302918;AMYH02004321;BC042847;BC064574;BC068596;CB961934;CH471207;CH878726;DB168291;NM_207328;XM_005263882;XM_005263884;XM_005263888;XM_006712302;XM_006712303;XM_006712304;XM_006712305;XM_006712306;XM_006712307;XM_006712308;XM_006712309;XM_006712310;XM_006712311;XM_006712312;XM_006712313;XM_006712314;XM_006712315 AAH68596;BAC56921;BAC85508;BAD18390;BAD18392;BAG60411;BAG64065;BAG64083;EAW53911;EAW71391;EAW71392;EAW71393;EAW71394;NP_997211;Q6NUI2;XP_005263939;XP_005263941;XP_005263945;XP_006712365;XP_006712366;XP_006712367;XP_006712368;XP_006712369;XP_006712370;XP_006712371;XP_006712372;XP_006712373;XP_006712374;XP_006712375;XP_006712376;XP_006712377;XP_006712378 Hs.348629;Hs.679801 1685548;1740117;1751263;2156152;2165582;2177997 D2S2136;RH26381;RH35908;RH79204;SGC35015;SHGC-105076 CT123;GPAT-2;xGPAT1 OTTHUMP00000207415;OTTHUMP00000207416;OTTHUMP00000207417;cancer/testis antigen 123 protein-coding ENSG00000186281 HGNC:27168 14089 VALIDATED 1318991 GPATCH1 G patch domain containing 1 ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN mRNA splicing, via spliceosome (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN catalytic step 2 spliceosome; INTERACTS WITH all-trans-retinoic acid; atrazine; cobalt dichloride 19 19 19 q13.11 30265376 30314942 + 33571786 33621318 + 33080880 33130412 + 737633;6480464;8554872 12477932 11991638;14702039;20379614;21139048;21832049;22412018;22504420;22939629;22963587;24430505;24639526;24816145 55094 K7EQ19;Q9BRR8 ABBA01039610;ABBA01039611;ABBA01039612;ABBA01039613;ABBA01039614;ABBA01039615;AC008521;AF434677;AK001068;AK091835;AK096005;AK292503;AK315712;AL834465;AMYH02035931;AMYH02035932;AMYH02035933;AMYH02035934;BC006108;NM_018025;XM_006723255 AAH06108;AAN63596;BAA91489;BAF85192;BAG38071;CAD39124;NP_060495;Q9BRR8;XP_006723318 Hs.466436 5020948;5037552 D8S2279;G35510 ECGP;FLJ10206;FLJ34516;FLJ38686;GPATC1 G patch domain-containing protein 1;evolutionarily conserved G patch domain containing;evolutionarily conserved G-patch domain containing;evolutionarily conserved G-patch domain-containing protein protein-coding ENSG00000076650 HGNC:24658 11008 PROVISIONAL 1321766 GPANK1 G patch domain and ankyrin repeats 1 This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010] 6 6 6 p21.3 33228083 33231384 - 31629006 31634060 - 31661229 31666283 - 1580863;6480464 12477932;14574404;14656967;14702039;15489334;16189514;16344560;18029348;18624398;18835879;19115949;19851445;19913121;20453000;20628086;21832049;21963094;22505724;22678362;22990118;24250222;2813433;2911734 7918 B2RA66;F6QYZ9;F6UZA3;O95872 ABBA01038084;AF087962;AF129756;AJ420471;AK123707;AK314056;AL662899;AL670886;AL805934;AMYH02013452;BA000025;BC008783;BC018875;BX511262;CH471081;CR354443;CR753842;CR759761;DA368924;NM_001199237;NM_001199238;NM_001199239;NM_001199240;NM_033177;XM_005249403;XM_005272889;XM_005275043;XM_005275179;XM_005275302;XM_005275474;XM_005275607;XM_006715204;XM_006725737;XM_006725738;XM_006725847;XM_006725935 AAD18082;AAH08783;ABM83602;ABM86844;BAB63387;BAG36763;EAX03467;EAX03468;EAX03469;EAX03470;EAX03471;NP_001186166;NP_001186167;NP_001186168;NP_001186169;NP_149417;O95872;XP_005249460;XP_005272946;XP_005275100;XP_005275236;XP_005275359;XP_005275531;XP_005275664;XP_006715267;XP_006725800;XP_006725801;XP_006725910;XP_006725998 Hs.247478;Hs.732291 1773416;2123770;2132093;5037552;5118877 D11S3745;D8S2279;RH16232;RH78482;STS-W74100 ANKRD59;BAT4;D6S54E;G5;GPATCH10 G patch domain and ankyrin repeat-containing protein 1;G patch domain and ankyrin repeats-containing protein 1;G patch domain containing 10;HLA-B associated transcript-4;HLA-B-associated transcript 4;OTTHUMP00000029244;OTTHUMP00000029248;OTTHUMP00000070448;OTTHUMP00000070516;OTTHUMP00000174329;ankyrin repeat domain 59;ankyrin repeat domain-containing protein 59;g patch domain-containing protein 10 APPROVED protein-coding ENSG00000204438 HGNC:13920 00810 142610 REVIEWED 1606673 GPATCH11 G patch domain containing 11 ENCODES a protein that exhibits nucleic acid binding (inferred); INTERACTS WITH (-)-demecolcine; copper(2+) sulfate; coumestrol 2 2 2 p22.2 37152623 37164767 + 37311594 37326387 + 37084451 37099244 + 6480464 12213963;12477932;14702039;15489334;15815621;15851553;17207965;20360068;21048031;21139048;21890473;24250222;24816145 253635 Q8N954 ABBA01074973;AC007899;AK095667;AK289504;AK294697;AMYH02003612;BC071798;BE876720;BM285380;BQ446347;BX647651;CD368364;CD723509;CH471053;NM_001278505;NM_174931 AAY24316;ADQ32025;BAC04602;BAF82193;BAH11850;EAX00410;EAX00411;NP_001265434;NP_777591;Q8N954 Hs.595250 2114812 RH68953 CCDC75;CENP-Y;FLJ38348 CENPY;OTTHUMP00000158584;OTTHUMP00000158585;centromere protein Y;coiled-coil domain containing 75;coiled-coil domain-containing protein 75;g patch domain-containing protein 11 APPROVED protein-coding ENSG00000152133 HGNC:26768 08785 VALIDATED 1347677 GPATCH3 G patch domain containing 3 ENCODES a protein that exhibits nucleic acid binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenite(3-); atrazine; methyl methanesulfonate 1 1 1 p35.3-p35.1 25614074 25624058 - 27216979 27226962 - 26890488 26900471 - 6480464;8554872 12477932;14702039;15489334;16344560;16710414 63906 H0Y5H5;Q5JYG5;Q96I76 ABBA01034933;AK022517;AK057930;AK303183;AK308100;AL034380;AL356390;AL833886;AMYH02000581;AW137695;BC007767;CH471059;CR936767;DA513389;NM_022078 AAH07767;ACE86929;ACE87616;BAB14074;BAG64277;CAD38742;EAX07783;NP_071361;Q96I76 Hs.10903 2115136 SHGC-74477 DKFZp686E0221;FLJ12455;GPATC3 G patch domain-containing protein 3;OTTHUMP00000004411 protein-coding ENSG00000198746 HGNC:25720 07772 VALIDATED 1345601 GPAA1P1 glycosylphosphatidylinositol anchor attachment 1 pseudogene 1 2 2 2 q13 102784554 102785773 + 110741545 110742764 + 109983968 109985187 + 1331365 10393431 22945 AB017268;AC013268;AMYH02004543;NG_001245 pseudo HGNC:4447 INFERRED 1604390 GPATCH8 G patch domain containing 8 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH hydrogen peroxide; testosterone enanthate; theophylline 17 17 17 q21.31 39182234 39290985 - 42472645 42580957 - 44395277 44503589 - 6480464;8554872 10477733;12477932;15302935;15498521;16344560;16565220;16712791;16713569;17081983;19729601;19913121;20628086;20811636;21594610;21890473;21988832;22505724;23443559;23602568;24250222;24457600;24654937;24816145;9628581 23131 K7EKU0;K7EL52;K7EQK8;Q9UKJ3 AB011125;ABBA01028368;ABBA01028369;ABBA01028370;ABBA01028371;ABBA01028372;ABBA01028373;AC007722;AC103703;AF160252;AK025600;AMYH02033483;AMYH02033484;AMYH02033485;AMYH02033486;BC017808;BC024147;BC063601;BC136629;BC140010;BC144323;CA443965;CB161089;CD709791;CH471178;DB021837;NM_001002909;NR_036474;XM_006721781;XM_006721782;XM_006721783 AAF03681;AAH24147;AAI36630;BAA25479;EAW51593;NP_001002909;Q9UKJ3;XP_006721844;XP_006721845;XP_006721846 Hs.463129 1646134;1652974;1677832;1688186;1773499;2118141;2144398;2164147;5093526 A009Q13;BCD1485;D17S2112;G32769;L18248;RH76534;RH98757;SHGC-37109;STS-N55111 GPATC8;KIAA0553 G patch domain-containing protein 8 protein-coding HGNC:29066 11089 614396 VALIDATED 1351664 GPB glycerol phosphatase, beta- 2833154 2816 HGNC:4448 1606544 GPATCH4 G patch domain containing 4 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN hematopoietic progenitor cell differentiation (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; all-trans-retinoic acid 1 1 1 q22 129635069 129642064 - 156564100 156571288 - 156594308 156601496 - 6480464 12477932;14702039;15635413;16344560;16712791;19471022;19913121;20360068;20628086;21145461;22190034;22751105;22990118;24457600;24778252;24816145 54865 A8KAG1;E9PAV9;E9PPY4;F2Z3C6;F8W895;Q5T3I0 ABBA01016653;AK000256;AK055377;AK125763;AK293026;AK301232;AL365181;AMYH02001976;BC032436;BC040147;BC056904;BE326312;BF669837;BM997996;BQ214732;CB109133;CH471121;DA087471;NM_015590;NM_182679;XM_005245287 AAH32436;AAH40147;AAI52775;BAA91036;BAC86278;BAF85715;BAG62804;EAW52935;EAW52936;EAW52937;EAW52938;NP_056405;NP_872620;Q5T3I0;XP_005245344 Hs.193832;Hs.708599 1666869;1677172;1850512;2140887;2184095 RH15878;RH83;STS-M79075;WI-13531;WIAF-2182 GPATC4 G patch domain-containing protein 4;OTTHUMP00000031985;OTTHUMP00000031986;OTTHUMP00000231461 protein-coding ENSG00000160818 HGNC:25982 13596 VALIDATED 1345985 GPAM glycerol-3-phosphate acyltransferase, mitochondrial This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] 10 10 10 q25.2 107637183 107671081 - 113907971 113975153 - 112148213 112215395 - 1580863;2313652;2313659;6480464;6907045;8554872 18614621;9032096 10997877;11076863;11230166;11546763;12477932;15164054;15489336;16344560;16381901;16385451;18238778;18660489;19209188;20453000;20686565;20877624;21832049;21906983;22070544;2242030;22634312;2303421;24097068;8369314;8944226;9434961 57678 Q5VW52;Q86T70;Q8N1G6;Q9HCL2 AB046780;ABBA01063006;AK025752;AK172782;AK172799;AL391986;AL598680;AL832464;AL833061;AL833093;AMYH02023813;AMYH02023814;BC030783;BQ694715;BX647451;CH471066;DA313962;DA728196;DA802170;DB197687;NM_001244949;NM_020918;XM_005269998;XM_005269999;XM_005270000 AAH30783;BAB13386;BAD18763;BAD18772;CAD89932;CAD89967;CAL37491;EAW49543;EAW49544;EAW49545;NP_001231878;NP_065969;Q9HCL2;XP_005270055;XP_005270056;XP_005270057 Hs.42586 1703588;1711980;1851358;2146926;2176421;2178567 RH118441;RH79105;SHGC-64743;STS-F04204;STS-H98829;STS-N63655 GPAT;GPAT-1;GPAT1;KIAA1560;MGC26846;RP11-426E5.2 OTTHUMP00000020486;OTTHUMP00000020487;glycerol 3-phosphate acyltransferase, mitochondrial;glycerol-3-phosphate acyltransferase 1, mitochondrial APPROVED protein-coding ENSG00000119927 HGNC:24865 03865 602395 REVIEWED 1318884 GPATCH2 G patch domain containing 2 ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN negative regulation of phosphatase activity; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-demecolcine; (S)-nicotine; atrazine 1 1 1 q41 190827684 191027875 - 217603834 217804426 - 217430492 217631084 - 737633;1580863;6480464;8554872 12477932 14702039;15375528;15489334;17081983;19389623;19432882;20379614;21546767;22589738;23455922 55105 Q6PIX0;Q9NW75 ABBA01048113;ABBA01048114;ABBA01048115;ABBA01048116;AC096641;AK001114;AK024701;AK123745;AK291238;AK310304;AL354659;AMYH02002701;AMYH02002702;BC027719;BC042193;BC063474;CH471100;CS401370;DB074192;KF455137;NM_001297754;NM_018040;XM_005273174;XM_005273175;XM_005273176;XR_247030 AAH27719;AAH42193;AAH63474;BAA91509;BAF83927;CAL40333;EAW93333;NP_001284683;NP_060510;Q9NW75;XP_005273231;XP_005273232;XP_005273233 Hs.362343;Hs.420757 1644091;1663956;1670445;1685860;1692464;1699536;1708432;1851219;2107177;2129708;2145538;2159700;2182946;2186681 AL009396;AL033883;D1S1553;GPATC2__7534;RH103365;RH70655;RH94041;SHGC-53731;SHGC-76358;SHGC-76370;SHGC-76371;SHGC-76374;SHGC-83915;STS-AA026113 CT110;FLJ10252;FLJ21048;GPATC2;MGC74998;PPP1R30;RP11-361K17.1 G patch domain-containing protein 2;OTTHUMP00000000554;cancer/testis antigen 110;protein phosphatase 1, regulatory subunit 30 protein-coding ENSG00000092978 HGNC:25499 07657 VALIDATED 1316340 GPALPP1 GPALPP motifs containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH valproic acid 13 13 13 q14.12 26619807 26658517 + 45563673 45607743 + 44989538 45033608 + 6480464;8554872 11214970;12477932;24163370;24816145;25036637 55425 Q8IXQ4 AB051491;ABBA01021225;ABBA01021226;AF145122;AF245045;AJ420573;AK292493;AK304669;AL359706;AMYH02027963;AMYH02027964;AMYH02027965;BC017776;BC032333;BC039586;CH471075;NM_018559;XM_005266443;XM_005266444 AAF70548;AAG44482;AAH17776;AAH32333;AAH39586;BAB21795;BAF85182;BAG65444;EAX08720;EAX08721;EAX08722;EAX08723;NP_061029;Q8IXQ4;XP_005266500;XP_005266501 Hs.731811;Hs.744143 1665957;1849665;1854808;2111526;2111698;2149390;2180049 D13S1500;D13S1613;G09572;G09948;SHGC-59895;STS-AA025320;WI-14099 AD029;KIAA1704;LSR7;RP11-245H20.2;bA245H20.2 GPALPP motifs-containing protein 1;OTTHUMP00000018339;OTTHUMP00000236438;hypothetical protein LOC55425;lipopolysaccharide specific response-7 protein;lipopolysaccharide-specific response protein 7;uncharacterized protein KIAA1704 APPROVED protein-coding ENSG00000133114 HGNC:20298 17225 PROVISIONAL 1605641 GPBP1L1 GC-rich promoter binding protein 1-like 1 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN positive regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; atrazine; benzo[a]pyrene diol epoxide I 1 1 1 p34.1 44376961 44436283 - 46092976 46153782 - 45627304 45688110 - 6480464 12477932;16189514;16344560;19322201;24250222 60313 Q9HC44 ABBA01050860;ABBA01050861;ABBA01050862;AF177334;AK024972;AK027212;AK225197;AL604028;AL834194;AMYH02000935;AMYH02000936;AMYH02000937;AX925940;BC015713;BC022218;BC022863;BC052257;BC068578;BU627076;CH471059;DA243695;NM_021639;XM_005271094;XM_005271095 AAG17978;AAH15713;AAH22218;AAH52257;ABM83410;ABM86621;BAB15047;CAD38884;CAF02362;EAX06956;EAX06957;EAX06958;EAX06959;EAX06960;NP_067652;Q9HC44;XP_005271151;XP_005271152 Hs.238432 1754843;1768281;2127134;2128843;5123570 D1S3276;SHGC-141763;SHGC-74736;SHGC-74741;SHGC-74743 RP11-767N6.1;SP192 GC-rich promoter-binding protein 1-like 1;OTTHUMP00000038560;vasculin-like protein 1 protein-coding ENSG00000159592 HGNC:28843 15418 VALIDATED 1607008 GPBP1 GC-rich promoter binding protein 1 This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] 5 5 5 q11.2 53424015 53515385 + 56469676 56560506 + 57173849 57264679 + 6480464 11076863;11230166;11256614;12477932;12842993;14612417;15146197;15489336;16344560;16381901;17672918;19060904;21139048;21988832;8889548 65056 D4PHA4;Q86WP2 ABBA01015772;ABBA01015773;ABBA01015774;ABBA01015775;ABBA01015776;AC008435;AC034244;AI200911;AK024807;AK307505;AK311625;AL136844;AL161991;AMYH02011339;AMYH02011340;AMYH02011341;AY226828;BC000267;BC070132;BC113004;BM985337;BQ023353;BU682723;CD657101;CH471123;CN358821;DB089516;DB271841;KF457923;NG_029503;NM_001127235;NM_001127236;NM_001203246;NM_022913;XM_005248571;XM_005248572;XM_005248573;XM_005248574;XM_006714673;XM_006714674 AAH00267;AAH70132;AAI13005;AAO34124;BAB15013;CAB66778;CAB82324;CAL37429;CAL38320;EAW54961;EAW54962;EAW54963;EAW54964;EAW54965;EAW54966;NP_001120707;NP_001120708;NP_001190175;NP_075064;Q86WP2;XP_005248628;XP_005248629;XP_005248630;XP_005248631;XP_006714736;XP_006714737 Hs.444279 1648074;1665893;1700880;1848561;2142746;2162127;2190925 A002V17;MARC_11613-11614:1002743702:1;RH104066;RH45197;RH45335;WI-15946;WI-21467 DKFZp761C169;GPBP;MGC126339;SSH6 GC-rich promoter-binding protein 1;OTTHUMP00000221900;OTTHUMP00000221901;OTTHUMP00000221902;OTTHUMP00000221903;OTTHUMP00000224438;OTTHUMP00000227401;vascular wall-linked protein;vasculin APPROVED protein-coding ENSG00000062194 HGNC:29520 16333 608412 REVIEWED 736919 GPBAR1 G protein-coupled bile acid receptor 1 This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 2 2 2 q35 212892317 212895161 + 219125738 219128582 + 218261015 218263859 + 634464;1580863;6480464 12419312 12036966;12044878;12477932;12524422;14702039;15489334;16400329;17178880;17214962;17326144;18577758;19582812;19716570;19723493;19944697;20623999;20811628;21212509;21691102;21691103;21691110;21754919;21883702;22236403;22550135;23022524;23238937;23523790;23566200;23619297;23818521;23849932;24338481;24465162 151306 Q8TDU6 AB083601;AB086170;AB089307;ABBA01023875;AC021016;AK122658;AK122660;AMYH02005786;BC033625;BI834364;CH471063;FJ695195;NM_001077191;NM_001077194;NM_170699 AAH33625;ABM82266;ABM85448;BAB89314;BAC55235;BAC65343;BAG53647;BAG53648;EAW70598;NP_001070659;NP_001070662;NP_733800;Q8TDU6 Hs.160954 5014609 RH48755 BG37;GPCR;GPCR19;GPR131;M-BAR;MGC40597;TGR5;hBG37;hGPCR19 G-protein coupled bile acid receptor 1;G-protein coupled bile acid receptor BG37;G-protein coupled receptor GPCR19;OTTHUMP00000225874;OTTHUMP00000225875;OTTHUMP00000225876;membrane bile acid receptor;membrane-type receptor for bile acids APPROVED protein-coding ENSG00000179921 HGNC:19680 17050 610147 REVIEWED 1347282 GPC4 glypican 4 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008] X X X q26.1 132821529 132935634 - 132433815 132549205 - 133301036 133415177 - 1580863;5510027;6480464 20231458 10585884;10814714;11066092;11336704;12009023;12477932;12975309;15489334;15772651;19199708;19884766;20301398;20301471;20562859;21565611;22644326;22761013;23455922;23633195;23667531;23824909;7657705;7925270;9787072;9931407 2239 O75487 ABBA01042319;ABBA01042320;ABBA01042321;ABBA01042322;ABBA01042323;ABBA01042324;ABBA01042325;ABBA01042326;ABBA01042327;ABBA01042328;ABBA01042329;ABBA01042330;ABBA01042331;AF030186;AF030195;AF064826;AF088063;AK304207;AK312605;AL034400;AL109623;AMYH02040513;AMYH02040514;AMYH02040515;AY052833;AY358507;BC017166;CH471107;NG_012498;NM_001448 AAC31899;AAC69991;AAF22364;AAH17166;AAL11018;AAQ88871;ABM82735;ABM85918;BAG35494;BAG65082;EAX11772;NP_001439;O75487 Hs.58367 1661219;1674051;1691538;1691646;1705374;2107179;2147306;2148266 AF020112;AL023956;AL032551;AL032600;GPC4__7535;SHGC-83545;STS-D45526;WI-16817 K-glypican OTTHUMP00000024052;dJ900E8.1 (glypican 4);glypican proteoglycan 4;glypican-4 APPROVED protein-coding HGNC:4452 02160 300168 REVIEWED 1318835 GPC5 glypican 5 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] 13 13 13 q32 72897866 74366737 + 92050935 93519490 + 91398681 92867237 + 1580863;5510027;6480464;8554872 20231458 11292377;11566272;12477932;12721791;15057823;15489334;17846126;18195134;19010793;19022413;19043545;19174780;19422935;19556317;19590514;19834535;19865102;20189936;20205591;20301492;20304703;20360068;20360844;20379614;20688270;20692050;20881960;20886065;20944657;20966902;21339334;21441931;21988832;22236185;23223018;23251661;23297363;23648065;23867465;23962560;24130709;24135429;7657705;9070915;9331333 2262 P78333 ABBA01027226;ABBA01027227;ABBA01027228;ABBA01027229;ABBA01027230;ABBA01027231;ABBA01027232;ABBA01027233;ABBA01027234;ABBA01027235;AF001462;AK312815;AL138714;AL157363;AL157768;AL157815;AL157821;AL159152;AL162456;AL163537;AL354871;AL356118;AL356737;AL596221;AMYH02028470;AMYH02028471;AMYH02028472;AMYH02028473;AMYH02028474;AMYH02028475;AMYH02028476;AMYH02028477;AMYH02028478;AMYH02028479;AMYH02028480;AMYH02028481;AMYH02028482;AMYH02028483;AMYH02028484;AMYH02028485;AMYH02028486;BC030584;BC039730;CH471085;DB100549;HY017486;KF455806;KF511209;NG_009370;NM_004466;U66033 AAC12261;AAC51118;AAH39730;ADZ15579;BAG35673;EAX08927;NP_004457;P78333 Hs.655675 1336345;1338329;1646559;1655699;1663813;1666130;1667245;1669188;1673714;1687451;1690944;1701376;1706288;1706500;1708424;1709696;1710814;1710864;1711128;1713341;1714319;1718097;1724675;1743283;1756335;1759231;1761285;1775325;1782830;1782978;1792230;1792232;1792234;1792238;1792240;1792242;1846731;1846911;1850312;1855344;1857748;2111750;2113342;2123086;2124795;2129554;2137001;2140995;2152176;2155713;2159279;2166145;2172584;2175221;2177933;5019805;5019899;5115409;5123364;5128239 A009W27;D10S2412;D13S1300;D13S140;D13S1490;D13S1642;D13S1669;D13S1690;D13S1732;D13S1811;D13S795;D13S899;D13S907;G09432;G29128;G29145;G32919;G54646;GDB:314231;L17986;PMC140024P17;PMC140024P18;PMC140024P19;PMC140024P20;PMC140024P21;PMC140024P23;RH104318;RH119939;RH120664;RH121340;RH122663;RH65549;RH77946;RH80577;RH93789;SGC34864;SHGC-112363;SHGC-12990;SHGC-143319;SHGC-145290;SHGC-151150;SHGC-152222;SHGC-32622;SHGC-37261;SHGC-4700;SHGC-51851;SHGC-52670;SHGC-53712;SHGC-80699;SHGC-81110;SHGC-81144;SHGC-83508;SHGC-84151;SHGC-84210;SHGC-86221;SHGC-86335;STS-T81306;STS-T98842;UniSTS:61556;WI-15916 OTTHUMP00000018551;bA93M14.1;glypican proteoglycan 5;glypican-5 APPROVED protein-coding ENSG00000179399 HGNC:4453 03902 602446 REVIEWED 6481433 GPC5-AS2 GPC5 antisense RNA 2 q31.3 11329013 100873970 AI024039;AI827689;AL157815;BG194310;BG196347;NG_009370;NR_120382 Hs.567269 APPROVED ncrna HGNC:39887 VALIDATED 6481126 GPC5-IT1 GPC5 intronic transcript 1 (non-protein coding) 100874293 AL159152 ncrna HGNC:41340 6481434 GPC5-AS1 GPC5 antisense RNA 1 13 13 93353642 93373867 - 92701389 92721614 - 100873969 ABBA01027226;AL356737;AMYH02028484;BF942055;BI116573;CK904642;HG505817;HG505818;NR_046520;NR_049775;NR_049776 Hs.577863 RP11-118A1.1 APPROVED ncrna ENSG00000235984 HGNC:39886 VALIDATED 737615 GPC3 glypican 3 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] X X X q26.1 133056670 133506461 - 132669773 133119673 - 133535745 133985646 - 704404;1580863;5510027;6480464;6484113;7240710;8554872;8699517 20231458 10814714;11193214;11320054;11893651;12085187;12477932;12478660;12816733;12824919;14661052;15083193;15475451;15772651;16227623;16299239;16344560;16675560;16682817;17087938;17549790;17581422;17603795;17949778;17949790;18029348;18264086;18277882;18413366;18462363;18469798;18511877;18785116;18813128;18813403;18976006;19141032;19215053;19231003;19243386;19329941;19405109;19496787;19513517;19574883;19793164;19816934;19838081;20301398;20301471;20301533;20301534;20546340;20653060;20701957;20725905;20803547;20845507;20868507;20950395;20964802;21187490;21303616;21371925;21410073;21429352;21438004;21493758;21556932;21586223;21617840;21655958;21822558;21847365;21890473;21906983;21919070;21937079;22026458;22119409;22298472;22382024;22448662;22449976;22706665;22865282;23060277;23079207;23084579;23114924;23192642;23327927;23348905;23471984;23526389;23530909;23558072;23598528;23606591;23624389;23643963;23743582;24068947;24115482;24186850;24207089;24225756;24362268;24439425;24492943;24521523;24747240;7657705;7909248;8125298;8589713;9021160;9133586;9339360;9371521;9630066;9787072;9853964;9931407;9950367 2719 B4DTD8;H0Y3U6;I6QTG3;P51654;Q53H15 ABBA01042350;ABBA01042351;ABBA01042352;ABBA01042353;ABBA01042354;ABBA01042355;ABBA01042356;ABBA01042357;ABBA01042358;ABBA01042359;ABBA01042360;ABBA01042361;ABBA01042362;ABBA01042363;ABBA01042364;ABBA01042365;ABBA01042366;ABBA01042367;ABBA01042368;ABBA01042369;ABBA01042370;ABBA01042371;ABBA01042372;ABBA01042373;ABBA01042374;ABBA01042375;ABBA01042376;ABBA01042377;ABBA01042378;ABBA01042379;ABBA01042380;ABBA01042381;ABBA01042382;ABBA01042383;ABBA01042384;ABBA01042385;ABBA01042386;ABBA01042387;ABBA01042388;AC002420;AF003529;AK222761;AK222766;AK300168;AK310196;AK310689;AL008712;AL009174;AL034401;AL662851;AMYH02040517;AMYH02040518;AMYH02040519;AMYH02040520;AMYH02040521;AMYH02040522;AMYH02040523;BC035972;BX329946;CH471107;CS208011;CS610131;DB107651;DQ349136;DQ349137;DQ349138;HB867196;JQ943686;KF510639;L47124;L47125;L47176;NG_009286;NM_001164617;NM_001164618;NM_001164619;NM_004484;U50410;Z37987;Z97196;Z99570 AAA93471;AAA98131;AAA98132;AAB58806;AAB87062;AAH35972;ABC72125;ABC72126;ABC72127;ABM84584;ABM86748;AFM30911;BAD96481;BAD96486;BAG61950;CAA86069;CAJ44931;CAO00500;CBF57584;EAX11769;EAX11770;EAX11771;NP_001158089;NP_001158090;NP_001158091;NP_004475;P51654 Hs.644108 1643640;1645264;1649536;1651375;1651705;1658468;1660988;1661834;1662011;1671496;1691532;1691626;1691628;1702896;1703110;1732153;1748117;1748123;1748127;1748129;1748177;1748181;1748183;1748189;1771345;1772026;1850309;1851630;1853551;1858462;2114810;2118767;2124367;2125864;2126636;2135435;2135618;2136546;2138084;2151459;2152382;2152418;2159969;2161183;2167723;5093924;5119837;5127648 A009Z03;AL008945;AL008948;AL032559;AL032585;AL032586;DXS1414;DXS6842;DXS7314;DXS7315;DXS7596;DXS7764;DXS9777;G18198;G33003;G66651;G66652;G66656;G66657;G66688;G66690;G66691;G66692;GDB:182527;L47619;L76269;L77878;L77879;L77880;L77881;L77882;L77883;RH16248;RH17563;RH18522;RH36204;RH45404;RH68769;RH70004;RH79181;SHGC-34460;SHGC-34872;SHGC-35150;SHGC-35437;SHGC-52514;STS-H93110;UniSTS:99645;WI-16747 DGSX;GTR2-2;MXR7;OCI-5;SDYS;SGB;SGBS;SGBS1 OTTHUMP00000024058;OTTHUMP00000024059;glypican proteoglycan 3;glypican-3;heparan sulphate proteoglycan;intestinal protein OCI-5;secreted glypican-3 APPROVED protein-coding ENSG00000147257 HGNC:4451 02074 194070;300037;312870 REVIEWED 6481440 GPC6-AS1 GPC6 antisense RNA 1 13 q31.3 94154193 94187991 - 100873972 ABBA01027213;AI698767;AL161426;AL354762;AMYH02028498;AW235508;HG505821;NG_011880;NR_046535 Hs.670344 RP11-23P11.2 APPROVED ncrna ENSG00000236520 HGNC:39909 VALIDATED 1318945 GPATCH2L G patch domain containing 2-like ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-demecolcine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 14 14 14 q24.3 56656362 56707266 + 76618255 76671239 + 76151885 76229842 + 6480464;8554872 10574461;12477932;14702039;15489334;16344560;17903302;20379614;23455924 55668 G3V276;G3V3M4;G3V4I8;G3V4L1;G3V553;G3V5D0;Q9NWQ4 AB032978;ABBA01030687;ABBA01030688;AC008015;AC016526;AK000696;AK000895;AK023523;AK055384;AL712469;AMYH02029544;AU144095;AW005132;BC038835;BC058032;BE778470;BX387502;BX476104;CH471061;NM_017926;NM_017972;NR_110314;XM_006720191;XM_006720192;XM_006720193 AAF03244;AAG38637;AAH58032;BAA86466;BAA91325;BAA91411;BAG51204;EAW81250;EAW81251;EAW81252;EAW81253;EAW81254;EAW81255;EAW81256;NP_060396;NP_060442;Q9NWQ4;XP_006720254;XP_006720255;XP_006720256 Hs.410231 1340713;1687998;1690884;7183727 D14S270;RH91957;RH92951 C14orf118;FLJ10033;FLJ20689;MGC61896 G patch domain-containing protein 2-like;OTTHUMP00000246181;OTTHUMP00000246186;OTTHUMP00000246187;hypothetical protein LOC55668;uncharacterized protein C14orf118 APPROVED protein-coding ENSG00000089916 HGNC:20210 16594 VALIDATED 6481437 GPC6-AS2 GPC6 antisense RNA 2 ASSOCIATED WITH Micromelic dysplasia, congenital, with dislocation of radius (inferred) 13 13 94470677 94510726 - 93818424 93858473 - 8554872 100873973 ABBA01027215;ABBA01027216;AL162455;AMYH02028496;AMYH02028497;BI827445;HG505820;KF455809;NR_046536 Hs.615939 RP11-62D23.2 APPROVED ncrna HGNC:39910 VALIDATED 1606261 GPCPD1 glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) ENCODES a protein that exhibits glycerophosphocholine phosphodiesterase activity (inferred); phosphoric diester hydrolase activity (inferred); starch binding (inferred); INVOLVED IN glycerophospholipid biosynthetic process (inferred); lipid metabolic process (inferred); phospholipid metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH cadmium atom; copper atom; copper(0) 20 20 20 p12.3 5595915 5663197 - 5525080 5591672 - 5544434 5611026 - 6480464;8554872 10718198;11780052;12477932;14702039;15489334;20576599;21900206;22343285 56261 H0Y565;Q9NPB8 AB037855;ABBA01053880;ABBA01053881;ABBA01053882;AK001947;AK308111;AL049446;AL109935;AL833069;AMYH02036643;AMYH02036644;AMYH02036645;AMYH02036646;AX675186;BC027588;BG674365;BI561344;BP421674;CH471133;NM_019593;T79323;XM_005260758;XM_005260760;XM_005260761;XM_006723595;XM_006723596 AAH27588;BAA91994;BAA92672;CAD83808;EAX10413;EAX10414;EAX10415;EAX10416;NP_062539;Q9NPB8;XP_005260815;XP_005260817;XP_005260818;XP_006723658;XP_006723659 Hs.636359 1649779;1670982;1699250;1853086;2116363;2136294;2137245;2159454;2182245;2182935;2190953 D20S760;EST159813;MARC_12069-12070:1004549810:1;RH103206;RH64148;RH70786;STS-R10161;STS-R79720;WI-17673;WI-20801;Z94598 FLJ11085;GDE5;GDPD6;KIAA1434;MGC26147;PREI4;RP5-1022P6.2 OTTHUMP00000030200;glycerophosphocholine phosphodiesterase GPCPD1;glycerophosphodiester phosphodiesterase 5;preimplantation protein 4;putative glycerophosphocholine phosphodiesterase GPCPD1;putative glycerophosphodiester phosphodiesterase 5 APPROVED protein-coding ENSG00000125772 HGNC:26957 10025 614124 VALIDATED 730930 GPC1 glypican 1 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] 2 2 2 q35-q37 235047069 235079415 + 241375115 241407495 + 240435698 240468078 + 1580863;5510027;6480464;6484113 20231458 10196157;10364234;10527946;10892742;11336704;11375980;11454708;11968010;12084716;12477932;12732622;12972423;1417860;14702039;15084524;15249209;15297422;15489334;15547662;16723715;17016645;18064304;18536657;18634034;19023125;19166823;19199708;19479373;21139048;21265098;2148568;21932778;22351761;22863883;23624389;23736812;24019070;7774946;8125298;9802880 2817 C9J4Y6;H7BZE9;H7BZL4;H7C024;H7C410;P35052 AB209122;ABBA01048870;ABBA01048871;AC110619;AK095397;AK096638;AK223516;AMYH02006097;AMYH02006098;BC008123;BC027997;BC045712;BC051279;BG825129;CH471063;CS072948;NM_002081;X54232 AAH27997;AAH51279;AAY24160;BAD92359;BAD97236;BAG53043;BAG53345;CAA38139;CAI93681;EAW71180;EAW71181;EAW71182;EAW71183;EAW71184;NP_002072;P35052 Hs.328232 1678291;1694456;1781312;1781314;1781316;1781318;1781320;2219096 G31174;G31175;G31176;G31177;G31183;G42945;GPC1__6645;RH80235 FLJ38078 OTTHUMP00000164497;OTTHUMP00000201548;glypican;glypican proteoglycan 1;glypican-1 APPROVED protein-coding ENSG00000063660 HGNC:4449 02671 600395 REVIEWED 1352914 GPC6 glypican 6 The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. [provided by RefSeq, Jan 2009] 13 13 13 q32 74727460 75908516 + 93879078 95060274 + 93226825 94408020 + 1580863;5510027;6480464;7240710;8554872;8699517 20231458 10329016;10480909;12477932;12975309;15057823;15489334;17903302;18839057;19481194;19726429;19834535;20379614;20634892;20692050;20889312;21871017;22044751;22589738;22747683;22993228;23251661;23535033;24159190;7657705 10082 Q9Y625 ABBA01027211;ABBA01027212;ABBA01027213;ABBA01027214;ABBA01027215;ABBA01027216;ABBA01027217;ABBA01027218;ABBA01027219;ABBA01027220;ABBA01027221;ABBA01027222;ABBA01027223;ABBA01027224;AF105267;AF111178;AK074741;AK130013;AK290144;AK304338;AL137144;AL138700;AL139798;AL160036;AL160159;AL161426;AL162455;AL354762;AL354811;AL356598;AL357275;AL450425;AL606810;AMYH02028492;AMYH02028493;AMYH02028494;AMYH02028495;AMYH02028496;AMYH02028497;AMYH02028498;AMYH02028499;AY358462;BC106947;BQ009005;BQ182216;BX640888;CH471085;KF455809;KF510403;NG_011880;NM_005708;XM_005254017;XM_006719911 AAD31392;AAD55749;AAI06948;AAQ88827;BAF82833;BAG65183;EAX08931;EAX08932;EAX08933;EAX08934;NP_005699;Q9Y625;XP_005254074;XP_006719974 Hs.444329;Hs.615434 1335225;1336424;1337594;1340086;1651921;1653352;1654094;1670339;1677774;1684258;1688688;1693638;1696094;1703954;1704406;1707508;1711894;1711896;1722681;1725105;1726677;1726871;1728507;1729932;1730453;1738441;1751419;1768295;1773080;1782812;1782814;1782918;1782984;1847905;1850629;1856833;2106481;2111738;2111740;2122639;2122889;2125443;2138380;2150010;2150840;2153959;2158692;2160967;2175419;2177714;2178052;5037552;5094991;7184693;7185403;7186428;7187446 A008V26;ATC-P10376;D12S1283;D13S1093E;D13S1193;D13S1206;D13S125;D13S129;D13S1451;D13S1635;D13S1636;D13S1665;D13S167;D13S184E;D13S197;D13S281;D13S71;D13S762;D13S775;D8S2279;G49558;G49559;G60425;G62575;G62678;G63691;GPC6;GPC6__6647;RH118850;RH44643;RH44781;RH44943;RH45636;RH65457;RH68496;RH98501;RH99121;SHGC-105244;SHGC-106184;SHGC-106880;SHGC-155183;SHGC-58318;SHGC-58551;SHGC-78776;SHGC-79124;SHGC-81838;SHGC-83667;SHGC-84554;STS-AA007180;WI-17041;WI-18121;WI-18223;WI-20311 MGC126288;OMIMD1 OTTHUMP00000018552;glypican proteoglycan 6;glypican-6 APPROVED protein-coding ENSG00000183098 HGNC:4454 05099 258315;604404 REVIEWED 731703 GPC2 glypican 2 ENCODES a protein that exhibits heparan sulfate proteoglycan binding (inferred); INVOLVED IN carbohydrate metabolic process (inferred); chondroitin sulfate metabolic process (inferred); glycosaminoglycan biosynthetic process (inferred); PARTICIPATES IN glypican signaling pathway; Hedgehog signaling pathway; FOUND IN endoplasmic reticulum; INTERACTS WITH atrazine; exemestane; tunicamycin 7 7 7 q22.1 94502575 94510340 - 99767229 99774990 - 100169606 100177367 - 728608;1580863;5510027;6480464;6484113 20231458;8294498 11076863;11230166;11256614;12477932;12690205;14702039;15489334;15489336;16381901 221914 Q8N158 ABBA01013228;ABBA01013229;AC073842;AK096281;AL834418;AMYH02016375;AY093588;BC027972;CH236956;CH471091;NM_152742;XM_006715892;XM_006715893 AAH27972;ABM84251;ABM87640;BAC04745;CAD39080;CAL37787;EAL23846;EAW76578;NP_689955;Q8N158;XP_006715955;XP_006715956 Hs.211701 DKFZp547M109;FLJ38962 OTTHUMP00000206907;cerebroglycan;glypican proteoglycan 2, cerebroglycan proteoglycan;glypican-2 protein-coding ENSG00000213420 HGNC:4450 17051 PROVISIONAL 733156 GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 12 12 12 q13.12 49293286 49300582 + 50497602 50505103 + 50103819 50111320 + 1580863;6480464;6907045;8699517;7240710;8554872 10190973;1052094;11822825;12477932;14674682;15489334;16169070;16460752;16849634;18029348;19056867;19296078;19425502;20404019;21988832;22226083;2398890;4415475;7772607;8944226;9247308;9851831 2819 F8VSE8;P21695 ABBA01031555;AC025154;AI245302;AK130162;AK295911;AK312516;AMYH02026453;BC017429;BC032234;CA307120;CD244782;CH471111;DC305085;DC310521;L34041;M36917;NG_032168;NM_001257199;NM_005276 AAA35925;AAA92863;AAH32234;ABM84719;ABM92243;BAG35417;BAG58699;EAW58128;EAW58129;NP_001244128;NP_005267;P21695 Hs.524418 1685117;2141236;2168313;2177223;5021462;5037552;5494187 D10Bir3;D11S4592;D8S2279;G24084;M36917;RH41823;RH47067 FLJ26652;GPD-C;GPDH-C;HTGTI OTTHUMP00000242172;OTTHUMP00000242174;OTTHUMP00000242679;glycerol 3-phosphate dehydrogenase;glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic;glycerol-3-phosphate dehydrogenase [NAD+], cytoplasmic;glycerol-3-phosphate dehydrogenase, soluble;glycerophosphate dehydrogenase APPROVED protein-coding ENSG00000167588 HGNC:4455 00714 138420;614480 REVIEWED 1345791 GPD1L glycerol-3-phosphate dehydrogenase 1-like The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010] 3 3 3 p22.3 32085677 32147612 + 32148003 32210207 + 32106511 32168715 + 737633;6480464;6907045;7240710;8554872;8699517 12477932 16344560;17967976;17967977;18029348;18762705;19322201;19666841;19745168;20301690;20379614;21139048;21555452;21685173;22004471;24250222;24274692;24347629;7788527 23171 C9JFA7;C9JM46;C9K0P5;F8WC16;Q8N335 ABBA01024946;ABBA01024947;AC094019;AI080105;AK074221;AK125404;AK292808;AMYH02006492;BC006168;BC028726;BX283865;CH471055;D42047;DA318838;NG_023375;NM_015141;XM_005264983;XM_005264984;XM_006713068 AAH06168;AAH28726;BAA07648;BAF85497;BAG54194;EAW64421;EAW64422;NP_055956;Q8N335;XP_005265040;XP_005265041;XP_006713131 Hs.82432 1298321;1646774;1655739;1677424;1705250;2111880;2129538;2185164 Bda19d10;D3S2432;D3S3047;D3S3942;D3S4040;RH139;RH25317;SHGC-78115 GPD1-L;KIAA0089 OTTHUMP00000208779;glycerol-3-phosphate dehydrogenase 1-like protein APPROVED protein-coding ENSG00000152642 HGNC:28956 10008 611777;611778 REVIEWED 737186 GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010] 2 2 2 q24.1 150905211 151056180 + 157291965 157442915 + 156435453 156586403 + 704404;1580863;6480464;6907045;7240710;8554872 11243726;12477932;14702039;15456763;15967408;16341674;16344560;167714;17886033;18976975;19011903;20339536;2065091;20877624;21906983;22939629;24244333;24583282;25027693;3943520;6406231;6790537;7821823;8549872;8619474;8682323;9070847;9110174 2820 E7EM56;E9PDK4;F5GYK7;F8W6E4;P43304;Q53T76 AB209399;ABBA01004831;ABBA01004832;ABBA01004833;ABBA01004834;ABBA01004835;ABBA01004836;ABBA01004837;AC011308;AC092686;AF311325;AK022596;AK027840;AK093198;AK123563;AK290057;AK291065;AK292817;AK299645;AL699359;AL703918;AMYH02005032;AMYH02005033;AMYH02005034;AMYH02005035;BC019874;BM750374;CH471058;DA220999;NG_016606;NM_000408;NM_001083112;U12424;U36310;U40367;U79250;XM_005246469;XM_005246470 AAA65701;AAB50200;AAB60403;AAC50556;AAG33851;AAH19874;AAY24073;AAY24329;BAD92636;BAF82746;BAF83754;BAF85506;BAG52671;BAH13087;EAX11452;EAX11453;NP_000399;NP_001076581;P43304;XP_005246526;XP_005246527 Hs.512382 1653472;1683247;1687962;1688502;1739231;2121742;2128224;2133301;2157594;2161570;2163840;2171154;2190587 D2S1796;D2S1924;D2S2702;EST9E7;RH45295;RH47073;RH47734;RH78864;RH91693;RH98478;RH98775;SHGC-62015;WI-9348 GDH2;GPD-M;GPDH-M;GPDM;mGPDH;mtGPD OTTHUMP00000162788;OTTHUMP00000204452;OTTHUMP00000204453;OTTHUMP00000204458;glycerol-3-phosphate dehydrogenase 2;glycerol-3-phosphate dehydrogenase, mitochondrial;mitochondrial glycerophosphate dehydrogenase 2314777;2314985 GLUCO106_H;INSUL32_H APPROVED protein-coding ENSG00000115159 HGNC:4456 00715 125853;138430 REVIEWED 1345276 GPDS1 glaucoma-related pigment dispersion syndrome 1 ASSOCIATED WITH Glaucoma-Related Pigment Dispersion Syndrome (inferred) 7240710 9076212 7986 1337406;1339616;7183803;7185484 D7S2423;D7S2462;D7S2546;D7S550 HGNC:4457 600510 735664 GPER1 G protein-coupled estrogen receptor 1 This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum. The protein binds estrogen, resulting in intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. Alternate transcriptional splice variants which encode the same protein have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 p22.3 1094088 1101068 + 1126443 1133451 + 1086807 1093815 + 1580863;4892084;4892064;5128698;6480464;8552988;8547944;8548497 19274700;19767412;20445128;22927406;22975889;24382480 11043579;11773440;11897506;12027886;12193550;12446589;12477932;12690205;12744705;14632195;14675202;15090535;15245432;15489334;15511221;15539556;15705806;15761144;15771623;15994455;16125968;16210518;16239258;16280047;16344560;16520733;17638621;17655271;17878253;18240029;18289622;18467434;18467441;18566127;18794456;19153601;19179659;19342448;19432902;19549922;19744559;19749156;19902352;19911269;20086172;20197310;20203690;20211987;20508064;20596598;20819778;20960099;21149639;21170498;21196169;21266576;21269226;21273787;21278491;21354433;21427217;21607586;21632639;21791623;21974818;22075757;22138208;22138413;22153880;22260839;22270964;22378861;22414008;22415229;22425775;22430216;22495674;22495744;22496838;22520060;22576740;22781117;22792339;23012390;23038618;23056216;23235274;23285008;23300088;23314808;23432876;23458722;23466742;23554355;23580092;23688258;23748028;23907016;23921077;23951246;24037776;24169358;24319683;24421881;24451139;24553912;8889548;8920907;9070864;9141481;9367686;9398636;9479505 2852 C9J3W2;Q63ZY2;Q99527 AB451427;ABBA01039320;AC091729;AF007171;AF015257;AF027956;AK289588;AMYH02015038;AY265807;AY265808;AY265809;BC011634;BC067849;BC082766;BM672716;CH236953;CH471144;CR541655;CR541741;DA014990;DC381205;NM_001039966;NM_001098201;NM_001505;U58828;U63917;U77827;X98510;Y08162 AAB02736;AAB88017;AAC51173;AAC51904;AAC52027;AAH11634;AAH82766;AAP40320;AAP40321;AAP40322;ABM82828;ABM86014;BAF82277;BAG70241;CAA67133;CAA69354;CAG46456;CAG46541;EAL23938;EAW87194;EAW87195;NP_001035055;NP_001091671;NP_001496;Q99527 Hs.20961 1856229;2120030;2135708;2142692;5017686 D7S2090E;D7S2826;GPR30;RH11876;RH70704 CEPR;CMKRL2;DRY12;FEG-1;GPCR-Br;GPER;GPR30;LERGU2;LyGPR;MGC99678;mER G protein-coupled receptor 30;G-protein coupled estrogen receptor 1;G-protein coupled receptor 30;IL8-related receptor DRY12;LERGU;OTTHUMP00000025298;OTTHUMP00000115502;OTTHUMP00000200079;chemoattractant receptor-like 2;chemokine receptor-like 2;constitutively expressed peptide-like receptor;flow-induced endothelial G-protein coupled receptor 1;heptahelix receptor;leucine rich protein in GPR30 3'UTR;lymphocyte-derived G-protein coupled receptor;membrane estrogen receptor APPROVED protein-coding ENSG00000164850 HGNC:4485 03484 601805 REVIEWED 1346484 GPHA2 glycoprotein hormone alpha 2 GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008] 11 11 11 q13.1 62027912 62029329 - 64701943 64703360 - 64934471 64935888 - 1580863;6480464 11809971;12045258;12089349;12477932;15489334;15890769;16376481;17363077;18433898 170589 E9PLQ0;Q96T91 ABBA01024139;AF260739;AMYH02024946;AP001187;BC093960;BC093962;BC101523;CH471076;CS172789;CS469763;NM_130769 AAH93960;AAH93962;AAI01524;AAK51638;CAJ32901;CAM33585;EAW74326;EAW74327;NP_570125;Q96T91 Hs.436119 1655661;1670249;2127007;2157902;2157904;2187134;5492527;5493007 A002D23;D11S4947;G19958;G33092;RH11559;RH17836;UniSTS:481495;UniSTS:483682 A2;GPA2;MGC126572;ZSIG51 OTTHUMP00000230533;OTTHUMP00000230534;cysteine knot protein;glycoprotein alpha 2;glycoprotein hormone alpha-2;putative secreted protein Zsig51;thyrostimulin subunit alpha APPROVED protein-coding ENSG00000149735 HGNC:18054 17052 609651 VALIDATED 1342611 GPHB5 glycoprotein hormone beta 5 GPHB5 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008] 14 14 14 q23.2 43830335 43835256 - 63779549 63785593 - 63312835 63318879 - 6480464 12045258;12089349;12477932;12508121;15489334;15890769;16210345;18433898;19095738;8889548 122876 Q86YW7 ABBA01018322;AF403430;AF467770;AL049871;AL118555;AMYH02029335;BC069113;BC133702;BM709443;CH471061;CS172792;CS469766;NM_145171 AAH69113;AAI33703;AAM53261;AAO33390;CAJ32902;CAM33586;EAW80825;NP_660154;Q86YW7 Hs.375028 B5;GPB5;ZLUT1 glycoprotein beta 5;glycoprotein hormone beta subunit;glycoprotein hormone beta-5;thyrostimulin subunit beta APPROVED protein-coding ENSG00000179600 HGNC:18055 17053 609652 VALIDATED 69477 GPHN gephyrin This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008] 14 14 14 q23.3 47033183 47707584 + 66974125 67648525 + 66507407 67181808 + 69377;1300220;1625104;1558665;1300048;1580863;6480464;7240710;8554872 12754701;1319186;14976213;16784786 10037506;10325225;10607391;10718198;10839351;10900017;10947798;11095995;11418245;11554796;11727829;12097491;12477932;12535948;12684523;12967995;14622920;14751928;14760703;15489334;1657993;16964243;17293395;17347650;18315564;18334916;18403029;19615732;19874574;19913121;20206270;20301437;20360068;20379614;20468064;20622020;20628086;21071388;21094642;21139048;21404332;21726808;21829170;21988832;22270318;22778260;22863883;23077067;23290196;23393157;23408424;24128675;24297911;24561070;24643514;24816145;7546736;9473484;9990024 10243 F5H039;G3V355;G3V4D2;G3V4R0;G3V582;H0YIY4;H0YJ30;H0YJR5;Q9NQX3 AB037806;ABBA01023719;ABBA01023720;ABBA01023721;ABBA01023722;ABBA01023723;ABBA01023724;ABBA01023725;AF272663;AJ272033;AJ272343;AK025169;AK294532;AK295577;AK297447;AK315569;AL049835;AL117667;AL133241;AL135978;AL139295;AL159179;AL355093;AMYH02029390;AMYH02029391;AMYH02029392;AMYH02029393;AMYH02029394;BC030016;BQ575870;CH471061;KF455914;KF510140;NG_008875;NM_001024218;NM_020806;XM_005267250;XM_005267253;XM_005267254;XM_006720003 AAF81785;AAH30016;ABM83389;ABM86601;BAA92623;BAG37944;BAH11801;BAH12110;BAH12583;CAC10537;CAC81240;EAW80923;EAW80924;EAW80925;EAW80926;NP_001019389;NP_065857;Q9NQX3;XP_005267307;XP_005267310;XP_005267311;XP_006720066 Hs.208765 1645914;1647578;1658928;1673090;1676310;1679045;1704808;1720255;1728533;1750649;1767835;1768994;1773246;1789262;1847119;2117230;2127548;2148965;2157096;2160688;2176295;2178576;2183604;2189331 D14S298;D14S883;G16723;G35432;G35673;G36288;G63705;G65629;MARC_1069-1070:991929832:1;RH123876;RH27236;RH46412;RH66202;RH70171;RH98697;SHGC-111965;SHGC-30989;SHGC-31433;SHGC-79872;STS-F04665;STS-N34544;WI-16924;WI-22628;WI-22778 GEPH;GPH;GPHRYN;HKPX1;KIAA1385 MOCODC;OTTHUMP00000183479;OTTHUMP00000218024;OTTHUMP00000245383 APPROVED protein-coding ENSG00000171723 HGNC:15465 04893 252150;603930;615501 REVIEWED 1344852 GPI glucose-6-phosphate isomerase This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phophsate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 19 19 19 q13.1 31557376 31605748 + 34855645 34893318 + 34364740 34402413 + 1625539;1600633;1600631;1600632;1580863;6480464;6907045;7240710;8554872;8699517 15466941;17041899;8499925;9856489 10216265;10727272;10916680;11004567;11264592;11418246;11431735;11688991;11896391;11896393;12054796;12477932;12517804;12527360;12573240;12737943;12783864;14566819;14715248;15034067;15059907;15290745;15369782;15489334;15570012;15576338;15637053;15850830;16009940;16196087;16563432;16949042;17071500;17690101;17875708;17925402;18029348;18311788;18485900;18781797;18992137;19056867;19064002;19531650;19787266;19801670;19819066;19946888;20237496;20360068;20810510;20845477;20849852;20978190;21139048;21252914;21319273;21555518;21890473;21906983;21963094;21970785;21987572;22053931;22261722;22360420;22505724;22939629;23000965;23166591;23248119;23773638;23824909;23874603;2387591;24337577;24440856;24583282;24810856;24816145;25015289;2544027;2547084;3020690;3352745;7435496;7545951;7989588;8575767;8822952;8822954;8889548;9446754;9616041 2821 B4DE36;K7EIL4;K7ELR7;K7ENA0;K7EP41;K7EPY4;K7EQ48;K7ERC6;K7ERK8;P06744 AB209575;ABBA01004335;ABBA01004336;ABBA01004337;ABBA01004338;ABBA01018719;AC010504;AC092073;AC231987;AK025421;AK129884;AK130102;AK293446;AK294396;AK301103;AMYH02035957;AMYH02035958;AY324386;BC004982;BC006342;BM664761;BX641158;CR745343;DC299841;DC342043;FY213211;K03515;NG_012838;NM_000175;NM_001184722;NM_001289789;NM_001289790;X16539;X83456;X83457;X83458;X83459;X83460;X83461;X83462;X83463;X83464;XM_005258763;XM_005258764;XM_006723148 AAA36368;AAH04982;AAP72966;ABM83850;ABM87172;BAD92812;BAG56947;BAG57650;BAG62702;NP_000166;NP_001171651;NP_001276718;NP_001276719;P06744;XP_005258820;XP_005258821;XP_006723211 Hs.466471;Hs.515344 1734622;1749587;2146846;2148979;2151956;2220246;5014039;5014051;5015619;5015861;5016478;5020948;5022200;5022322;5022578;5022651;5037552;5109281;7185938 D10S16;D11S2560;D11S2921;D11S3114;D19S630E;D19S984;D1S1423;D1S1425;D22S1584;D8S2278;D8S2279;G35510;GDB:434012;GPI;IB853;L18426;SHGC-111277;STS-K03515 AMF;DKFZp686C13233;GNPI;NLK;PGI;PHI;SA-36;SA36 autocrine motility factor;glucose phosphate isomerase;hexose monophosphate isomerase;hexosephosphate isomerase;neuroleukin;oxoisomerase;phosphoglucose isomerase;phosphohexomutase;phosphohexose isomerase;phosphosaccharomutase;sperm antigen 36;sperm antigen-36 APPROVED protein-coding ENSG00000105220 HGNC:4458 01394 172400;613470 REVIEWED 1606107 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] 8 8 8 q24.3 140603655 140607614 + 144295068 144299044 + 143213193 143217170 + 6480464;8699517 12477932;17207965;17403372;17620854;17883852;17997385;18713736;19304573;19542565;20026666;20237496;20966398;21314738;21478160;21518912;21816778;21844202;21978733;22008945;22078753;22239554;23831619;24614124;24704550;24793350;24847059;25172036 338328 Q8IV16 ABBA01005266;AC138696;AC231965;AF088057;AMYH02018935;AY245915;BC035810;BC063857;CH471162;HY047963;NG_034256;NM_001301772;NM_178172 AAH35810;AAH63857;AAO86519;ADQ31965;EAW82276;NP_001288701;NP_835466;Q8IV16 Hs.426410 1672172 STS-T63781 GPI-HBP1;HYPL1D GPI anchored high density lipoprotein binding protein 1;GPI-anchored HDL-binding protein 1;OTTHUMP00000228001;endothelial cell LPL transporter;glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1;high density lipoprotein-binding protein 1 APPROVED protein-coding ENSG00000277494 HGNC:24945 17347 612757;615947 REVIEWED 1343451 GPKOW G patch domain and KOW motifs This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided by RefSeq, Aug 2013] X X X p11.23 52684416 52695473 + 48969022 48980079 - 49113385 49123801 - 737633;6480464 12477932 15489334;16189514;16491121;17081983;17207965;18029348;20360068;21044950;21139048;21832049;21880142;21890473;22365833;22412018;22939629;22990118;23000965;23824909;24816145;8938429 27238 Q92917 AB209806;ABBA01046120;ABBA01046121;ABBA01046122;AC231657;AF196779;AMYH02039319;AMYH02039320;BC000397;BC003148;BE795098;CH471224;NG_021310;NM_015698;U66359 AAB18640;AAH00397;AAH03148;ADQ32429;BAD93043;EAW50694;NP_056513;Q92917 Hs.503666 1777461;2163802 A003P15;RH18203 GPATC5;GPATCH5;Spp2;T54 G patch domain and KOW motifs-containing protein;OTTHUMP00000023273;protein MOS2 homolog APPROVED protein-coding ENSG00000068394 HGNC:30677 06737 REVIEWED 1606585 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 25661841 25723263 - 24426060 24495433 - 24425832 24489622 - 6480464;6907045 10752311;11072085;11254757;11938765;11939716;11939719;11989719;12090469;12367767;12477932;12536633;14574404;14767861;15489334;15500911;15500962;15814706;15907827;1606959;16335952;16831865;17368745;17467053;17720976;17761367;17897319;17949898;18298948;18328347;1833386;18940312;19135435;19460752;20137110;20139978;2017684;20648472;20858461;21131602;22001757;22260953;22481092;2760042;7512501 2822 P80108 ABBA01066534;ABBA01066535;ABBA01066536;AJ308108;AJ400872;AJ400873;AJ400874;AJ400875;AJ400876;AK308639;AK310692;AL031230;AL359713;AMYH02013325;AMYH02013326;AY007546;BC007614;BC020748;BC093645;BC112001;BU587813;CH471087;L11701;L11702;NG_029888;NM_001503;XM_005249018 AAA36444;AAA36445;AAG16627;AAH07614;AAH20748;AAH93645;AAI12002;AAI56272;AAI57057;CAC14844;CAC87068;EAW55448;EAW55449;EAW55450;EAW55451;NP_001494;P80108;XP_005249075 Hs.533291 1648039;1657855;1660999;1671673;2130370;2132447;2154295;2167050 D6S2299;RH37437;RH46669;SGC35287;SHGC-12534;STS-H93959;WI-11671;WI-18199 GPIPLD;GPIPLDM;MGC22590;PIGPLD;PIGPLD1;PLD GPI-PLD;GPI-specific phospholipase D;OTTHUMP00000017721;OTTHUMP00000017722;PI-G PLD;glycoprotein phospholipase D;glycosyl-phosphatidylinositol-specific phospholipase D;glycosylphosphatIdylinositol-specific phospholipase D;glycosylphosphatidylinositol specific phospholipase D1, isoform 2;phosphatidylinositol-glycan-specific phospholipase D;phospholipase D, phosphatidylinositol-glycan-specific APPROVED protein-coding ENSG00000112293 HGNC:4459 03946 602515 REVIEWED 736321 GPM6A glycoprotein M6A ENCODES a protein that exhibits calcium channel activity (inferred); INVOLVED IN neuron migration; stem cell differentiation; neural retina development (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; vesicle; axonal growth cone (ortholog); INTERACTS WITH aflatoxin B1; arsenous acid; cobalt dichloride 4 4 4 q34 173882262 174251819 - 176554088 176923842 - 175632937 176002691 - 1580863;6480464;8554872 12359212;12477932;12493773;15489334;15822905;16344560;17500595;18163405;18574501;19056867;19298174;20379614;20400778;21041608;21900206;22365631;23284715;23382691;23632458;23722424;8661015;8807448;8893821 2823 D6R9D2;D6R9T7;D6RAE4;D6RB41;D6RBH3;D6RBM6;D6RD71;D6RD95;D6RDV7;D6REJ8;D6RFY0;D6RFZ3;D6RIF4;P51674 ABBA01070405;ABBA01070406;ABBA01070407;ABBA01070408;ABBA01070409;AC093819;AC097537;AC110794;AI609188;AK226176;AK299788;AMYH02010546;AMYH02010547;AMYH02010548;AMYH02010549;AMYH02010550;AX772804;BC010461;BC022508;BC022528;BC032904;BC037853;BC044612;BC053954;BI544825;BI546539;BI596896;BI670059;CH471056;D49958;DA190376;DA196860;DA507772;DA528125;DA621566;DA915764;DC353381;H16369;KF457835;KF457837;KF457840;NM_001261447;NM_001261448;NM_005277;NM_201591;NM_201592;NR_048571;U45956;XM_006714183 AAB16889;AAH22508;AAH22528;AAH37853;AAH44612;ABM83298;ABM86507;BAA08712;BAH13128;CAE06251;EAX04724;EAX04725;NP_001248376;NP_001248377;NP_005268;NP_963885;NP_963886;P51674;XP_006714246 Hs.75819 1335511;1337183;1644993;1695736;1700768;1705630;1719917;1724921;1739323;1767900;1767902;2115641;2118779;2119359;2130072;2177081 D4S2765E;D4S3028;D4S3030;D4S450;RH104009;RH119227;RH123651;RH35844;RH48750;SHGC-51395;SHGC-59781;SHGC-67744;SHGC-82659;SHGC-83382;STS-R49342;WI-21773 GPM6;M6A OTTHUMP00000218926;OTTHUMP00000218927;OTTHUMP00000218928;OTTHUMP00000218929;OTTHUMP00000218932;neuronal membrane glycoprotein M6-a protein-coding ENSG00000150625 HGNC:4460 03174 601275 VALIDATED 1349867 GPM6B glycoprotein M6B This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions, such as membrane trafficking and cell-to-cell communication. [provided by RefSeq, Apr 2009] X X X p22.2 17906144 18072735 - 13789062 13956861 - 13770943 13938732 - 1580863;6480464 10397631;11076863;11230166;11749036;12477932;14702039;15214007;15489334;15489336;16381901;16416265;17918249;18029348;18581270;19322201;20029029;21638316;23142642;23284715;23950870;8398137;8661015;9674909 2824 B7Z248;B7Z613;C9J028;C9J8H8;C9JZE8;H7C5A8;H7C5H4;Q13491 AA991690;AB209525;ABBA01071136;ABBA01071137;ABBA01071138;ABBA01071139;ABBA01071140;ABBA01071141;ABBA01071142;ABBA01071143;ABBA01071144;ABBA01071145;ABBA01071146;ABBA01071147;ABBA01071148;ABBA01071149;ABBA01071150;ABBA01071151;ABBA01071152;AC003035;AC003037;AF037347;AF047197;AK095657;AK127103;AK294314;AK299675;AL119977;AMYH02038897;AMYH02038898;AMYH02038899;AMYH02038900;BC008151;BC047295;BF525674;BG532134;BI548345;BI599457;BI669888;CH471074;NG_011988;NM_001001994;NM_001001995;NM_001001996;NM_005278;U45955;XM_005274489;XM_005274490 AAB16888;AAC19165;AAC19166;AAD13718;AAH08151;AAH47295;ABM82467;ABM85655;ACE86797;ACE87484;BAC04600;BAD92762;BAH11734;BAH13099;CAL37405;CAL37489;CAL37578;CAL37632;CAL37742;CAL37745;CAL37821;CAL37835;CAL37846;CAL37852;CAL37926;CAL38093;CAL38447;CAL38453;CAL38616;CAL38645;CAL38658;CAL38697;EAW98842;EAW98843;EAW98844;EAW98845;EAW98846;EAW98847;EAW98848;EAW98849;EAW98850;NP_001001994;NP_001001995;NP_001001996;NP_005269;Q13491;XP_005274546;XP_005274547 Hs.495710 1335771;1673378;1674017;1686917;1691192;1702144;1702390;2161605 DXS414;DXS7544;DXS8022;RH11278;RH78876;RH94256;WI-13786;WI-13921 M6B;MGC17150;MGC54284 OTTHUMP00000022945;OTTHUMP00000022946;OTTHUMP00000022947;OTTHUMP00000215023;OTTHUMP00000215024;OTTHUMP00000215025;neuronal membrane glycoprotein M6-b;protolipid M6B APPROVED protein-coding ENSG00000046653 HGNC:4461 02082 300051 REVIEWED 6481551 GPM6BP3 glycoprotein M6B pseudogene 3 22 22 17318403 17318555 + 16837513 16837665 + 100873787 ABBA01001462;AC007064;AMYH02037983;NG_032217 pseudo HGNC:38783 INFERRED 1319547 GPN1 GPN-loop GTPase 1 This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 2 2 2 p23.3 27696971 27719184 + 27851515 27873713 + 27628648 27650846 + 1580863;6480464 11058119;11124703;12477932;12588985;15489334;16189514;16196087;17643375;18029348;19615732;20855544;21139048;21145461;21386085;21768307;21890473;21906983;22113938;22174317;22796641;22863883;22939629;22990118;23000965;23362303;23667531;24024966;24816145 11321 F8WD09;Q9HCN4 AB044661;ABBA01045213;ABBA01045214;AC074091;AJ010842;AK298827;AK298866;AK302131;AK310340;AK311423;AK312992;AK316404;AMYH02003480;BC007451;CH471053;NM_001145047;NM_001145048;NM_001145049;NM_007266;NR_026735 AAH07451;AAX93201;ABM84206;ABM87610;BAB17612;BAG35829;BAG60957;BAG60986;BAG63506;BAH14775;CAA09376;EAX00557;EAX00558;NP_001138519;NP_001138520;NP_001138521;NP_009197;Q9HCN4 Hs.18259 1685315;1847473;2145525;2172690;2180817;2180819 A006H24;D2S1424;G20810;RH16648;RH98653;SGC32173 ATPBD1A;FLJ51176;MBDIN;NTPBP;RPAP4;XAB1 ATP(GTP)-binding protein;MBD2-interacting protein;OTTHUMP00000123421;OTTHUMP00000200840;OTTHUMP00000219545;OTTHUMP00000219546;RNA polymerase II associated protein 4;XPA binding protein 1, GTPase;XPA-binding protein 1;xpa binding protein 1 APPROVED protein-coding ENSG00000198522 HGNC:17030 10308 611479 REVIEWED 1603309 GPN2 GPN-loop GTPase 2 ENCODES a protein that exhibits GTP binding (inferred); nucleotide binding (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; methyl methanesulfonate; valproic acid 1 1 1 p36.11 25602968 25613964 - 27205872 27216869 - 26879382 26890378 - 6480464 12477932;12975309;14702039;15489334;16710414;17207965;21832049 54707 Q5JYG3;Q5JYG4;Q9H9Y4 ABBA01034933;AK001211;AK022535;AL034380;AMYH02000581;AY358864;AY364261;BC007815;BC008634;BC020272;BI766621;CH471059;KF495894;NM_018066 AAH07815;AAH08634;AAQ76820;AAQ89223;ADQ33167;BAA91556;BAB14084;EAX07784;NP_060536;Q9H9Y4 Hs.14333 1768215;2115136;5491643 D1S3022;MARC_4337-4338:996679555:1;SHGC-74477 ATPBD1B;FLJ10349 ATP binding domain 1 family, member B;ATP-binding domain 1 family member B;OTTHUMP00000004408 protein-coding HGNC:25513 07665 VALIDATED 1606002 GPN3 GPN-loop GTPase 3 ENCODES a protein that exhibits GTP binding (inferred); nucleotide binding (inferred); FOUND IN protein complex; INTERACTS WITH arsenous acid; cyclosporin A; diarsenic trioxide 12 12 12 q24.11 110517052 110533287 - 110890291 110906667 - 110452486 110468829 - 6480464 11076863;11230166;11256614;12477932;12975309;15489336;16196087;16381901;17643375;19615732;20639865;21139048;21145461;21768307;21782856;21906983;21963094;22797925;22990118;8125298 51184 F8W1F4;H0YHZ5;H0YI19;Q9UHW5;S4R3M7 ABBA01005109;AC002350;AC144548;AF117229;AK223209;AK314946;AM992619;AM992620;AMYH02027185;AY359078;AY364262;BC008416;BC031024;BI546381;BX537973;CH471054;DB455987;NM_001164372;NM_001164373;NM_016301;XM_005253896 AAF17210;AAH08416;AAH31024;AAQ76821;AAQ89437;BAD96929;BAG37451;CAD97937;CAL37887;CAL38696;CAQ52399;CAQ52400;EAW97914;NP_001157844;NP_001157845;NP_057385;Q9UHW5;XP_005253953 Hs.634680 1774188;1851330;2175078 D5S2669;RH45045;RH66517 ATPBD1C;MGC14560;MGC32810 ATP binding domain 1 family, member C;ATP-binding domain 1 family member C;OTTHUMP00000241423;OTTHUMP00000241424;protein x 0004 protein-coding ENSG00000111231 HGNC:30186 17498 VALIDATED 7205170 GPN3P1 GPN-loop GTPase 3 pseudogene 1 10 10 10 25643204 25644231 - 25936006 25937033 - 25647077 25648104 - 100302689 ABBA01034428;AC018509;AMYH02022490;NG_012769 pseudo HGNC:44914 INFERRED 736300 GPNMB glycoprotein (transmembrane) nmb The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p15 23272604 23301017 + 23286305 23314729 + 23246686 23275110 + 1580863;6480464 12176896;12477932;12609765;12638126;12643545;12690205;12853948;12975309;14696968;15231748;15489334;15684612;15763343;16247014;16341674;16609006;17081065;17845721;17951401;18983539;19320736;19350579;19453261;19834535;20056711;20215530;20375921;20379614;20711474;21252093;21389974;21844952;21874302;22014058;22290289;22558309;22891158;22912767;23000965;23383108;23452376;23794283;23898208;23924854;24589892;7814155;9847074 10457 Q14956;Q96F58 ABBA01056701;AC005082;AF322909;AI952217;AJ505015;AK292078;AK296779;AK297031;AK297051;AK297055;AK297803;AK303071;AK304671;AK312279;AMYH02015359;AY359124;BC011595;BC025297;BC032783;BM750843;BT007074;BU537639;CD105306;CH236948;CH471073;NM_001005340;NM_002510;X76534;XM_005249578 AAG42839;AAH11595;AAH32783;AAP22336;AAP22337;AAP35737;AAQ89481;ABM83010;ABM86203;BAF84767;BAG35208;BAG59357;BAG59559;BAG59577;BAG59580;BAG60141;BAG64187;BAG65446;CAA54044;CAD43718;EAL24259;EAW93781;EAW93782;EAW93783;EAW93784;NP_001005340;NP_002501;Q14956;XP_005249635 Hs.190495 1655352;1669605;1712094;1855721;5015861;5037552;7185938 D10S16;D8S2279;G54096;RH47597;RH67817;SHGC-35439 HGFIN;NMB OTTHUMP00000122417;OTTHUMP00000202127;glycoprotein NMB;glycoprotein nmb-like protein;osteoactivin;transmembrane glycoprotein HGFIN;transmembrane glycoprotein NMB APPROVED protein-coding ENSG00000136235 HGNC:4462 05081 604368 REVIEWED 732710 GPR1 G protein-coupled receptor 1 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; cyclosporin A 2 2 2 q33.3 200797465 200840208 - 207040040 207082771 - 206175316 206218047 - 1580863;6480464 10233994;10916084;12477932;12837283;15342556;15489334;15815621;15919664;16303743;16344560;16938805;17558413;18029348;19343178;20334567;20385583;22688191;22842622;23764515;7851889 2825 C9J456;C9JCK1;C9JFR8;C9JKF3;C9JQB7;C9JSU0;P46091 ABBA01062652;AC007383;AK075130;AK290976;AK312917;AL550780;AMYH02005626;BC058005;BC067833;BP279126;BX094581;BX389743;CA446989;CB269800;CH471063;DA545892;DA692381;DA733626;DA988428;EF577403;NM_001098199;NM_001261452;NM_001261453;NM_001261454;NM_001261455;NM_005279;U13666;XM_005246471;XM_006712437 AAA64592;AAH67833;AAY15063;ABQ52423;BAF83665;BAG52070;EAW70383;NP_001091669;NP_001248381;NP_001248382;NP_001248383;NP_001248384;NP_005270;P46091;XP_005246528;XP_006712500 Hs.184907 1649567;1754647;1797616;1847016;2113918;2143718;5015619;5016743 D11S3114;D2S2787;GPR1;GPR1_2200;RH65625;RH70567;SHGC-133003;STS-U13666 G-protein coupled receptor 1;OTTHUMP00000163809;OTTHUMP00000206357;OTTHUMP00000206358;OTTHUMP00000206359;OTTHUMP00000206360;OTTHUMP00000206361;OTTHUMP00000206362;OTTHUMP00000206363;probable G-protein coupled receptor 1 protein-coding ENSG00000183671 HGNC:4463 02585 600239 VALIDATED 7244600 GPR1-AS GPR1 antisense RNA 2 q33.3 206203376 206266243 + 12477932;14702039;16344560;16712791;22688191;23764515 101669764 AB774455;ABBA01062652;ABBA01062653;ABBA01062654;AC007383;AI128443;AK002005;AMYH02005626;AMYH02005627;BC028329;BE734382;CB160399;DB337034;NR_104359 Hs.574781;Hs.612050 GPR1-AS1;GPR1AS APPROVED ncrna ENSG00000279220 HGNC:48602 VALIDATED 1344763 GPR101 G protein-coupled receptor 101 The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011] X X X q26.3 136476405 136477931 - 136112307 136113833 - 137030148 137031674 - 1580863;6480464;8554872 11574155;12044878;12477932;15489334;18029348;19377476;21438024;24250222;24264576 83550 Q96P66 AB065937;AB083588;ABBA01065778;AF411115;AL390879;AMYH02040585;BC069439;CH471150;NG_016367;NM_054021 AAH69439;AAL26486;BAB89301;BAC06152;EAW88450;NP_473362;Q96P66 Hs.350569 1797588;5492605 GPR101_2082;UniSTS:481773 GPCR6 OTTHUMP00000024140;probable G-protein coupled receptor 101 APPROVED protein-coding ENSG00000165370 HGNC:14963 02315 300393 VALIDATED 1314180 GPR107 G protein-coupled receptor 107 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cadmium atom; copper(2+) sulfate 9 9 9 q34.11 103467074 103553498 + 132815985 132902448 + 130053706 130140169 + 6480464;8554872 10997877;12477932;14702039;15164053;17454009;21906983;22933024;8125298 57720 G5E994;Q5VW38;U3KQD2 AB046844;ABBA01043963;ABBA01043964;ABBA01043965;ABBA01043966;AF308603;AF376725;AJ420422;AJ420428;AK000825;AK021506;AK024651;AK025836;AK026244;AK074380;AK131317;AK225456;AK293092;AL136141;AL360004;AL392105;AL834359;AMYH02021752;AMYH02021753;AMYH02021754;BC007544;BC030147;BC039728;BC110518;BC143655;BM920552;BU618007;CH471090;NM_001136557;NM_001136558;NM_001287346;NM_020960;XM_006717196 AAI10519;AAI43656;AAK57695;AAQ14541;BAB13450;BAB15408;BAF85781;CAI46205;EAW87920;EAW87921;EAW87922;EAW87923;EAW87924;EAW87925;NP_001130029;NP_001130030;NP_001274275;NP_066011;Q5VW38;XP_006717259 Hs.512461 1649708;1655853;1663770;1722033;1724319;1768451;1770041;1779116;1797590;2155823;2155951;2172937;2172939;2184307;5015961;5016478 A001W37;D15S1477;D9S1013E;D9S1148;D9S1924;G19725;G59903;GDB:434012;GPR107_2364;RH119081;RH46291;SHGC-53916;Tel-9q55;Tel-9q56;Tel-9q63;WIAF-2221 DKFZp667C222;FLJ16312;FLJ20998;FLJ22591;GCDRP;KIAA1624;LUSTR1;MGC126118;MGC15440;RP11-88G17;bA138E2.2 OTTHUMP00000022357;OTTHUMP00000022359;lung seven transmembrane receptor 1 protein-coding ENSG00000148358 HGNC:17830 17054 VALIDATED 1344702 GPR108 G protein-coupled receptor 108 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2-nitrofluorene (ortholog) 19 19 19 p13.3 6672183 6679888 - 6729925 6737633 - 6729914 6737622 - 1580863;6480464 12477932;16169070;17454009;19423540;20406964;20438785;21906983;21963094;24816145 56927 G5E9L6;M0QYF6;M0QZ03;M0QZW9;M0QZY1;M0R1G1;M0R1Q3;M0R2E1;M0R3H4;Q9NPR9 ABBA01051474;AC008760;AI740753;AK291968;AL365404;AL522595;AMYH02035362;AX775899;BC007862;BC146909;BC150657;BX400757;CA425869;CB961886;CH471139;EB387948;NM_001080452;XM_006722801 AAH07862;AAI46910;AAI50658;BAF84657;CAB96950;CAE11649;EAW69066;EAW69067;EAW69068;NP_001073921;Q9NPR9;XP_006722864 Hs.167641 1660471;2191347;5491463 MARC_13947-13948:1007584180:3;MARC_17747-17748:1031760580:1;WI-14196 LUSTR2;MGC14393 OTTHUMP00000242983;lung seven transmembrane receptor 2 protein-coding ENSG00000125734 HGNC:17829 VALIDATED 1321097 GPR110 G protein-coupled receptor 110 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); neuropeptide signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 3-methylcholanthrene; copper atom; copper(0) 6 6 6 p12.3 48520157 48562426 - 46967116 47010082 - 46999379 47042350 - 1302390;6480464 14623098 12044878;12435584;12477932;12679517;14574404;14702039;15203201;18029348;20149256;8125298;8889548 266977 A0PJH0;H7C4N3;H7C570;Q5T601 AB045123;AB065679;AB083618;ABBA01050611;AK026337;AK055208;AK095348;AK225460;AL355518;AL698860;AMYH02013691;AY140952;AY255595;BC029358;BC104214;BC104215;BC113634;BC113636;BC144253;BU675866;CD685935;CH471081;CR627234;KF510951;NM_025048;NM_153840;XM_005249005;XM_005249006;XM_006715058 AAH29358;AAI04215;AAI13635;AAI13637;AAI60016;AAN46666;AAO85107;BAB15452;BAB70874;BAB89331;BAC45260;BAD83599;EAX04311;EAX04312;EAX04313;NP_079324;NP_722582;Q5T601;XP_005249062;XP_005249063;XP_006715121 Hs.733762 5014029;5015879;5016781;5020635;5022651 D11S2921;D13S1639;D7S3207;GDB:314949;SHGC-67307 FLJ22684;FLJ30646;KPG_012;MGC125952;PGR19;hGPCR36 G protein-coupled receptor PGR19;G-protein coupled receptor 110;G-protein coupled receptor KPG_012;G-protein coupled receptor PGR19;OTTHUMP00000016558;OTTHUMP00000016560;probable G-protein coupled receptor 110;seven transmembrane helix receptor protein-coding ENSG00000153292 HGNC:18990 08661 VALIDATED 1343922 GPR111 G protein-coupled receptor 111 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); neuropeptide signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); lead diacetate (ortholog) 6 6 6 p12.3 49180394 49221792 + 47624223 47665533 + 47656590 47697797 + 1580863;6480464;8554872 12044878;12435584;12565841;12679517;14574404;15203201 222611 D6R9E2;Q8IZF7 AB065684;AB083617;ABBA01050605;ABBA01050606;AK126683;AL356421;AMYH02013696;AY140953;AY255612;CH471081;DQ315369;NM_153839 AAI56187;AAI57026;AAN46667;AAO85124;ABC41928;BAB89330;BAC05907;EAX04320;NP_722581;Q8IZF7 Hs.724860 1334581;1722891;1727821;1797594 D6S1566;G60540;G63176;GPR111_2029 PGR20;hGPCR35 G protein-coupled receptor PGR20;OTTHUMP00000217380;OTTHUMP00000217381;probable G-protein coupled receptor 111 protein-coding ENSG00000164393 HGNC:18991 17055 VALIDATED 1346347 GPR112 G protein-coupled receptor 112 This gene encodes a G-protein coupled receptor belonging to a large family of diverse integral membrane proteins that participate in various physiological functions. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The ligand for this family member is unknown, and it is therefore an orphan receptor. This receptor is known to be expressed in normal enterochromaffin cells and in gastrointestinal neuroendocrine carcinoma cells, and it is therefore considered to be a novel biomarker or target for immunotherapy. [provided by RefSeq, May 2010] X X X q26.3 135745772 135861718 + 135383122 135499047 + 136300963 136416888 + 1580863;8554872 12435584;12679517;15203201;18953328;23443559 139378 Q8IZF6 ABBA01055887;ABBA01055888;ABBA01055889;ABBA01055890;ABBA01055891;ABBA01055892;ABBA01055893;ABBA01055894;ABBA01055895;ABBA01055896;ABBA01055897;ABBA01055898;ABBA01055899;ABBA01055900;ABBA01055901;ABBA01055902;ABBA01055903;ABBA01055904;AL078638;AL136167;AL161778;AMYH02040578;AY140954;AY255581;AY882585;CH471150;CR936801;NG_021219;NM_153834;XM_005262367 AAI56127;AAN46668;AAO85093;AAW78659;EAW88471;EAW88472;NP_722576;Q8IZF6;XP_005262424 Hs.381354 1691574;1702520;1702920;1769668;2146725 AL032563;DXS6721;DXS691;G18208;sWXD572 DKFZp781E1948;PGR17;RP1-299I16 OTTHUMP00000183578;OTTHUMP00000183579;probable G-protein coupled receptor 112 APPROVED protein-coding ENSG00000156920 HGNC:18992 06578 REVIEWED 1314157 GPR113 G protein-coupled receptor 113 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); neuropeptide signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1 (ortholog) 2 2 2 p23.3 26371279 26413239 - 26531041 26569685 - 26308173 26346817 - 1580863;6480464 12044878;12435584;12477932;12679517;12975309;14702039;15203201;15717329;23144319;24114056;24250222 165082 C9JSE8;F8WE87;Q8IZF5 AA459569;AB065959;AB083619;ABBA01045182;AC010896;AK122995;AK293887;AMYH02003458;AMYH02003459;AMYH02003460;AY140955;AY255611;AY358172;AY358214;BC043211;CH471053;NM_001145168;NM_001145169;NM_153835;T92048 AAI48417;AAI52989;AAN46669;AAO85123;AAQ88539;AAQ88581;AAY14645;BAB89332;BAC45265;BAG53841;BAG57276;EAX00694;EAX00695;EAX00696;EAX00697;EAX00698;EAX00699;NP_001138640;NP_001138641;NP_722577;Q8IZF5 Hs.631878 1338889;1676115;1682407;1751077 D2S2223;RH93722;RH98632;SHGC-104954 FLJ16767;PGR23;hGPCR37 G protein-coupled receptor PGR23;G-protein coupled receptor 113;G-protein coupled receptor PGR23;OTTHUMP00000196644;OTTHUMP00000196647;OTTHUMP00000196815;OTTHUMP00000196817;probable G-protein coupled receptor 113;seven transmembrane helix receptor protein-coding ENSG00000173567 HGNC:18989 11009 VALIDATED 1313657 GPR114 G protein-coupled receptor 114 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); neuropeptide signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH hydrogen peroxide; valproic acid; methylmercury chloride (ortholog) 16 16 16 q21 42077411 42112411 + 57576333 57611101 + 57542421 57577189 + 1580863;6480464;8554872 12435584;12477932;12679517;12975309;14702039;15203201;15489334;20600896;23602568 221188 B4E148;Q8IZF4 ABBA01025275;AC004382;AC027349;AK128298;AK160368;AK172765;AK292783;AK301357;AK303661;AMYH02032109;AX167242;AY140956;AY255609;AY358447;BC032401;CH471092;NM_153837;XM_005255836;XM_005255837;XM_006721169 AAH32401;AAN46670;AAO85121;AAQ88812;ABM85701;BAD18711;BAD18748;BAF85472;BAG54657;BAG62902;BAG64660;CAC43514;EAW82936;EAW82937;EAW82938;NP_722579;Q8IZF4;XP_005255893;XP_005255894;XP_006721232 Hs.187884 1706322;2191731 MARC_5775-5776:997299272:5;SHGC-80726 PGR27 G protein-coupled receptor PGR27;G-protein coupled receptor 114;G-protein coupled receptor PGR27;OTTHUMP00000164665;OTTHUMP00000164666;probable G-protein coupled receptor 114 protein-coding ENSG00000159618 HGNC:19010 17056 PROVISIONAL 1315496 GPR115 G protein-coupled receptor 115 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); neuropeptide signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-demecolcine; aflatoxin B1; calcitriol 6 6 6 p12.3 49222549 49246023 + 47666289 47689757 + 47698553 47722021 + 1580863;6480464;8554872 12435584;12679517;14574404;14702039;15203201;16344560;21822266;22505724;8889548 221393 Q8IZF3 AB065474;ABBA01050605;AK095395;AL356421;AMYH02013696;AY255556;BU683873;CH471081;DA445316;DB313938;DQ315370;NM_153838 AAI56188;AAI56925;AAO85068;ABC41929;BAC45257;BAG53042;EAX04321;EAX04322;NP_722580;Q8IZF3 Hs.150131 1686909;1779494;2122573 RH93990;SHGC-153471;SHGC-57797 FLJ38076;PGR18 G-protein coupled receptor 115;G-protein coupled receptor PGR18;OTTHUMP00000016563;OTTHUMP00000016564;probable G-protein coupled receptor 115;seven transmembrane helix receptor protein-coding ENSG00000153294 HGNC:19011 17057 614268 VALIDATED 1347693 GPR116 G protein-coupled receptor 116 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN energy reserve metabolic process (inferred); fat cell differentiation (inferred); G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell surface; cytoplasmic vesicle; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid 6 6 6 p12.3 48372598 48475024 - 46820242 46922681 - 46852505 46954954 - 1580863;6480464;8554872 10048485;11076863;11230166;12435584;12477932;12679517;14702039;15203201;15489334;15489336;16303743;16335952;16344560;16381901;18308334;18314133;18519826;19913121;20379614;20628086;24008316;9872452 221395 Q8IZF2 AB018301;AB031421;ABBA01050612;ABBA01050613;ABBA01050614;AI796309;AK075121;AK092043;AK289503;AK296948;AK300380;AL050295;AL096772;AL832125;AMYH02013688;AMYH02013689;AMYH02013690;AY140958;AY255552;AY498875;BC036002;BC050087;BC066121;CH471081;DA588699;DB230925;NM_001098518;NM_015234;XM_005248892;XM_005248893;XM_005248894;XM_005248895 AAH50087;AAH66121;AAN46672;AAO85064;AAS21061;ACE86978;ACE87667;BAA34478;BAD83582;BAF82192;BAG59494;BAG62115;CAB43394;CAL38391;EAX04307;EAX04308;EAX04309;NP_001091988;NP_056049;Q8IZF2;XP_005248949;XP_005248950;XP_005248951;XP_005248952 Hs.362806 1338267;1644327;1671570;1673602;1673604;1727125;1744319;1857905;2163988;7184461 D6S1540;D6S452;G62966;GDB:451673;RH46675;RH64938;RH68648;SGC34982;SHGC-34952 DKFZp564O1923;FLJ90640;KIAA0758;KPG_001 Ig-Hepta homolog;OTTHUMP00000016557;probable G-protein coupled receptor 116 protein-coding ENSG00000069122 HGNC:19030 11010 VALIDATED 6482620 GPR116P1 G protein-coupled receptor 116 pseudogene 1 9 9 q13 66516671 66518017 - 62860847 62862193 - 389740 AL512625;AMYH02020750;NG_021620 pseudo HGNC:32922 INFERRED 6482616 GPR116P2 G protein-coupled receptor 116 pseudogene 2 9 9 p11.2 44174322 44175727 - 42795392 42796797 + 441416 ABBA01033775;AMYH02020194;BX664718;NG_021616 pseudo HGNC:32921 INFERRED 736973 GPR119 G protein-coupled receptor 119 This gene encodes a member of the rhodopsin subfamily of G-protein-coupled receptors that is expressed in the pancreas and gastrointestinal tract. The encoded protein is activated by lipid amides including lysophosphatidylcholine and oleoylethanolamide and may be involved in glucose homeostasis. This protein is a potential drug target in the treatment of type 2 diabetes.[provided by RefSeq, Jan 2010] X X X q26.1 129904784 129905976 - 129518319 129519511 - 130384345 130385537 - 1302390;1580863;6480464 14623098 12044878;12477932;15489334;15772651;16517404;17900700;18037923;18202141;18698756;19562648;19660440;19780700;19817784;19901198;19920139;21906983;22883930;23069642;23648181;23798572;23824909 139760 Q8TDV5 AB065936;AB083584;ABBA01047925;AL035423;AMYH02040482;AY288416;BC095502;BC101166;BC101167;BC101168;BC126179;BC126181;CS538152;NG_016404;NM_178471 AAH95502;AAI01167;AAI01168;AAI01169;AAI26180;AAI26182;AAP72125;ADR82941;BAB89297;BAC06151;CAM84963;NP_848566;Q8TDV5 Hs.496762 2109359;5492839;5493711 GPR119_2585;UniSTS:482989;UniSTS:490481 GPCR2;MGC119957;hGPCR2 G-protein coupled receptor 119;G-protein coupled receptor 2;OTTHUMP00000024018;glucose-dependent insulinotropic receptor APPROVED protein-coding ENSG00000147262 HGNC:19060 06579 300513 REVIEWED 68465 GPR12 G protein-coupled receptor 12 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); phosphatidylcholine binding (inferred); INVOLVED IN cellular calcium ion homeostasis (inferred); G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of plasma membrane (inferred); INTERACTS WITH copper(2+) sulfate; (2,4,5-trichlorophenoxy)acetic acid (ortholog); 17beta-estradiol (ortholog) 13 13 13 q12 8398298 8403882 - 27329337 27334922 - 26755200 26760785 - 632854;632853;1580863;6480464 8262253;8530049 12477932;12649592;14702039;15057823;15489334;19389623;21832049;22430950;8889548 2835 A8K2F5;B4DG25;P47775 ABBA01007918;AK055229;AK290220;AK294378;AK307756;AK311107;AK312602;AL159978;AMYH02027739;AW015633;BC067448;BC067449;BC067450;BC067451;BC067452;BC112144;BC112146;BM727022;CH471075;HQ995525;NM_005288;U18548;XM_005266360 AAA91630;AAH67448;AAH67449;AAH67450;AAH67451;AAH67452;AAI12145;AAI12147;ADZ31970;BAF82909;BAG35492;BAG57636;EAX08390;NP_005279;P47775;XP_005266417 Hs.123034 1644209;1705586;1797598;2131334;5015861;5492385;5493235;7185938 D10S16;GPR12_2233;RH70578;SHGC-83901;UniSTS:480896;UniSTS:485414;WI-22121 FLJ18149;FLJ97704;GPCR12;GPCR21;MGC138349;MGC138351;PPP1R84 G-protein coupled receptor 12;OTTHUMP00000018159 protein-coding ENSG00000132975 HGNC:4466 15978 600752 VALIDATED 1317902 GPR123 G protein-coupled receptor 123 This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Mar 2014] 10 10 10 q26 128573501 128619379 - 134884433 134945179 + 133070929 133131675 + 1580863;6480464;8554872 11347906;12565841;12679517;14702039;15164054;15203201;16344560;16385451;17056209;17212699;18029348;18682798;24194939 84435 Q86SQ6 AB058731;ABBA01006203;ABBA01006204;AK090982;AK094675;AK098741;AK124728;AL445199;AMYH02024084;AY181241;AY255564;BC044247;BG818167;CB045391;CH471211;DA208698;DA398101;EF536972;NG_034069;NM_001083909;NM_001291085;XM_005252695 AAI46321;AAO27353;AAO85076;ABQ08572;BAB47457;EAW61312;EAW61313;NP_001077378;NP_001278014;Q86SQ6;XP_005252752 Hs.435183 1816350;1937746;1937748;1937750;1937752 ECD09217;REN39710;REN39711;REN39712;REN39713 FLJ25875;FLJ37356 OTTHUMP00000196657;probable G-protein coupled receptor 123 protein-coding ENSG00000197177 HGNC:13838 17058 612302 REVIEWED 1312494 GPR124 G protein-coupled receptor 124 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN central nervous system development (ortholog); endothelial cell migration (ortholog); regulation of angiogenesis (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell surface (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; ethyl methanesulfonate 8 8 8 p11.23 36605963 36653084 + 37654401 37701504 + 37796883 37843986 + 1580863;6480464;8554872 10819331;11559528;12168954;12477932;12565841;14702039;15021905;15203201;16344560;16982628;19448619;19853600;21875946;22013897;24144296;24582749 25960 H7C1L1;Q6YN44;Q96PE1 AB040964;ABBA01023567;ABBA01023568;ABBA01023569;AC138356;AF378755;AI346793;AK027296;AK074099;AL110244;AL137610;AL832524;AL832959;AMYH02017815;AMYH02017816;AY090637;AY181242;BC146774;CH471080;DA569569;NM_032777;XM_005273471;XM_006716325 AAI46775;AAL11992;AAM09084;AAO27354;BAA96055;BAB55022;BAB84925;CAB53694;CAD38629;CAH56283;EAW63354;EAW63355;EAW63356;EAW63357;EAW63358;EAW63359;NP_116166;Q96PE1;XP_005273528;XP_006716388 Hs.274136 1339700;1644448;1797596;2127573;2182492;5127935 AFMb057wg5;D8S1722;GPR124_2026;RH18231;SGC33756;SHGC-152364 DKFZp434C211;DKFZp434J0911;FLJ14390;KIAA1531;TEM5 G-protein coupled receptor 124;OTTHUMP00000209338;OTTHUMP00000209339;probable G-protein coupled receptor 124;tumor endothelial marker 5 protein-coding ENSG00000020181 HGNC:17849 08437 606823 VALIDATED 1312627 GPR125 G protein-coupled receptor 125 This gene encodes a member of the G protein-coupled receptor superfamily. This membrane protein may play a role in tumor angiogenesis through its interaction with the human homolog of the Drosophila disc large tumor suppressor gene. This gene is mapped to a candidate region of chromosome 4 which may be associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2012] 4 4 4 p15.2 22839590 22967882 - 22388997 22517677 - 22387374 22516054 - 1580863;6480464;8554872 12477932;12565841;12975309;14702039;15021905;15203201;15489334;17081983;17457313;20677014;21156761;21875946 166647 D6RDX4;D6RER4;Q8IWK6 ABBA01032664;ABBA01032665;AC093735;AC093814;AI198439;AK027494;AK095866;AK299168;AL832257;AMYH02008876;AMYH02008877;AY181243;AY358306;AY360366;BC026009;BC035645;BX416923;BX648287;CH471069;NG_032963;NM_145290;XM_005248137 AAH35645;AAO27355;AAQ88673;AAR11374;BAG53149;BAG61215;EAW92801;NP_660333;Q8IWK6;XP_005248194 Hs.99195 1646128;1650488;1660855;1683723;1688885;1695082;1717347;1744685;1755167;1857237;2121227;2175399;2177260;5015861;5022578;5037552;7185938 D10S16;D1S1423;D4S2473E;D4S2746;D4S3292;D4S723;D8S2279;G16807;G33924;G34074;GDB:549233;RH122164;RH64184;RH92906;SHGC-142088;WI-19797 PGR21;TEM5L OTTHUMP00000219285;OTTHUMP00000219295;TEM5-like;probable G-protein coupled receptor 125 protein-coding ENSG00000152990 HGNC:13839 11011 612303 REVIEWED 1318390 GPR126 G protein-coupled receptor 126 This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009] 6 6 6 q24.1 143363551 143507919 + 142623056 142767403 + 142301919 142446266 + 6480464;8554872 11410839;12119602;12477932;12565841;14702039;15084671;15189448;15203201;15225624;16303743;16335952;17109822;18304421;18391950;18391951;19266077;19343178;20010835;20379614;20397748;20546612;20677014;20881960;21929287;21963094;22268729;22837378;23284291;23400010;23563607;23666238;24227709;8076819 57211 F5H054;F5H2L1;H0YFM8;H0YGP2;Q86SQ4 AB183546;AB183547;AB183548;AB183549;ABBA01025757;AF216967;AK027843;AK075087;AK092519;AK122617;AK299785;AK307543;AL033377;AL080079;AL360007;AMYH02014628;AMYH02014629;AY181244;AY426673;BC036008;BC075798;BX640873;BX640971;BX648315;CH471051;NG_011839;NM_001032394;NM_001032395;NM_020455;NM_198569;XM_005267061;XM_006715516;XM_006715517;XM_006715518 AAH75798;AAO13250;AAO27356;AAR88427;BAB55406;BAC11393;BAD27571;BAD27572;BAD27573;BAD27574;BAG61666;CAE45930;CAE45986;EAW47875;EAW47876;EAW47877;EAW47878;EAW47879;EAW47880;EAW47881;NP_001027566;NP_001027567;NP_065188;NP_940971;Q86SQ4;XP_005267118;XP_006715579;XP_006715580;XP_006715581 Hs.743302 1338844;1339786;1655093;1657605;1673114;1690490;1713309;1713657;1750347;1852283;2150846;2179281;2179703;5093500;5110968 A009P45;AFM269zg5;D6S1007;D6S2436;G32755;RH120646;RH120711;RH15839;RH47174;RH80673;SHGC-112526;SHGC-36626;STS-H60843;STS-N30578;WI-14110 APG1;DREG;PS1TP2;VIGR G-protein coupled receptor 126;HBV PreS1-transactivated protein 2;OTTHUMP00000017320;OTTHUMP00000237093;OTTHUMP00000237094;OTTHUMP00000237115;developmentally regulated G-protein-coupled receptor;vascular inducible G protein-coupled receptor;vascular-inducible G protein-coupled receptor APPROVED protein-coding ENSG00000112414 HGNC:13841 17059 612243 REVIEWED 1316279 GPR128 G protein-coupled receptor 128 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); neuropeptide signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH cadmium atom; benzo[a]pyrene (ortholog); furan (ortholog) 3 3 3 q12.2 98719715 98805922 + 100328433 100414323 + 100609589 100695479 + 1580863;6480464;8554872 12477932;12565841;14702039;15203201;15342556;17081983;19797732 84873 E9PHI0;Q6ZMH4;Q96K78 ABBA01061787;ABBA01061788;AC069223;AK027360;AK122804;AK131069;AK172769;AK172774;AK295345;AMYH02007305;AY181246;BC113451;BC130388;BP270648;CH471052;KF457660;NM_032787;XM_005247839;XM_006713794 AAI13452;AAI30389;AAO27358;ADR83395;BAB55061;BAD18752;BAD18756;BAH12039;EAW79818;NP_116176;Q96K78;XP_005247896;XP_006713857 Hs.334511 FLJ14454;FLJ16382;FLJ29035;MGC142011;MGC163260 OTTHUMP00000214043;probable G-protein coupled receptor 128 protein-coding ENSG00000144820 HGNC:19241 17060 612307 VALIDATED 1321937 GPR132 G protein-coupled receptor 132 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein was reported to be a receptor for lysophosphatidylcholine action, but PubMedID: 15653487 retracts this finding and instead suggests this protein to be an effector of lysophosphatidylcholine action. This protein may have proton-sensing activity and may be a receptor for oxidized free fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 14 14 14 q32.3 85569212 85585228 - 105515726 105531887 - 105049389 105065550 - 1580863;6480464 12086852;12477932;12482833;12586833;12805023;15280385;15489334;15665078;16236715;16344560;16754659;17475884;18034171;18089568;18174230;19855098;19948975;20799926;22621271;9770487 29933 F8VRH8;Q9UNW8 AA714520;AB465599;AB465600;ABBA01008852;ABBA01008853;ABBA01008854;AF083955;AK292142;AK303654;AL512356;AMYH02029959;AMYH02029960;AX775841;AX775935;AX775939;BC004555;BC084546;BT007257;CH471061;CQ859764;CQ859766;DB137292;EU432121;EU543705;NM_001278694;NM_001278695;NM_001278696;NM_013345;W15172 AAD47380;AAH84546;AAP35921;ABY87920;ACC61682;BAF84831;BAG64656;BAG84609;BAG84610;CAE11620;CAE11667;CAE11669;CAH25932;CAH25933;EAW81898;NP_001265623;NP_001265624;NP_001265625;NP_037477;Q9UNW8 Hs.532504 1797600;1856518;2146828 G36117;G36142;GPR132_1771 G2A;MGC99642 G protein-coupled receptor G2A;G2 accumulation protein;OTTHUMP00000178739;OTTHUMP00000243878;OTTHUMP00000243881;probable G-protein coupled receptor 132 APPROVED protein-coding ENSG00000183484 HGNC:17482 06936 606167 REVIEWED 1344919 GPR133 G protein-coupled receptor 133 The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010] 12 12 12 q24.33 131051949 131239316 + 131438452 131626010 + 130953907 131141465 + 6480464;8554872 12477932;12679517;14702039;15203201;15489334;16344560;18464913;19729412;20031603;20379614;20834067;22025619;23166591;24529757 283383 F5H7I3;H0Y2U9;Q6QNK2;Q9NSM3 ABBA01019827;ABBA01019828;ABBA01019829;ABBA01019830;ABBA01019831;AC073862;AC078925;AC126564;AK131538;AL162032;AMYH02027561;AMYH02027562;AY255587;AY278561;AY532280;BC047951;BC112307;BC112309;BC143775;BX649116;CH471054;DA520615;EU523118;NM_198827;XM_005253566;XM_006719346;XM_006719347;XR_429090 AAI12308;AAI12310;AAI43776;AAO85099;AAP35063;AAS37682;ACB20802;BAD18674;CAB82385;EAW98523;NP_942122;Q6QNK2;XP_005253623;XP_006719409;XP_006719410 Hs.719239 1654141;1664022;1665631;1666263;1696306;1708648;1712933;1726941;1746275;1746535;1746537;1764309;1766121 D12S1322;G17668;G62715;G64704;G64705;G64706;RH120556;SGC34088;SHGC-147923;SHGC-149503;SHGC-56817;SHGC-77729;SHGC-85128 DKFZp434B1272;FLJ16770;MGC138512;MGC138514;PGR25 G-protein coupled receptor PGR25;OTTHUMP00000238595;OTTHUMP00000238598;OTTHUMP00000238602;probable G-protein coupled receptor 133 APPROVED protein-coding ENSG00000111452 HGNC:19893 17061 613639 VALIDATED 736248 GPR135 G protein-coupled receptor 135 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; levonorgestrel; PhIP 14 14 14 q23.1 39979309 39981128 - 59930240 59932059 - 59463522 59465341 - 1302390;1580863;6480464 14623098 12477932;12679517;15489334;16169070;20198315;22632162 64582 Q8IZ08 AB065563;ABBA01018270;AL159140;AMYH02029289;AY255588;AY288418;BC032831;BX094623;CH471061;M76676;NM_022571 AAB97766;AAH32831;AAO85100;AAP72127;ABM84287;ABM87679;BAC05800;EAW80751;NP_072093;Q8IZ08 Hs.647573 1701128;2173895 D14S1226;RH104192 HUMNPIIY20 OTTHUMP00000179032;probable G-protein coupled receptor 135 protein-coding HGNC:19991 16263 607970 VALIDATED 1604608 GPR137 G protein-coupled receptor 137 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cyclosporin A; elemental selenium; selenium atom 11 11 11 cen-q22.3 61378710 61383871 + 64051781 64056972 + 64284339 64289500 + 6480464;8554872 10873569;12477932;14702039;15489334;22837380;8889548 56834 F5GXD9;F5GXI8;F5GXW8;F5H097;F5H0Q1;F5H1T3;F5H1V9;F5H234;F5H4R8;F5H6Y8;F5H7S0;H0YGJ1;Q96N19;Q9NQC5 ABBA01003296;AJ250392;AK056094;AK300209;AK302256;AMYH02024932;AP001453;BC020396;BC029297;BC033920;BC035002;BI830247;BU730608;BU730610;BX119209;CH471076;NM_001170726;NM_001170880;NM_001170881;NM_001177358;NM_020155;XM_005274100;XM_005274101;XM_005274102;XM_005274104;XM_006718636 AAH33920;AAH35002;BAB71093;BAG61979;BAH13657;CAB96540;EAW74237;EAW74238;EAW74239;EAW74240;NP_001164197;NP_001164351;NP_001164352;NP_001170829;NP_064540;Q96N19;XP_005274157;XP_005274158;XP_005274159;XP_005274161;XP_006718699 Hs.523763 1660493;1689931;1777407;1793554;2180477 PMC230316P4;RH47513;RH78541;RH98400;WI-17324 C11orf4;GPR137A;TM7SF1L1 OTTHUMP00000236937;OTTHUMP00000236938;OTTHUMP00000236939;OTTHUMP00000236942;integral membrane protein GPR137;transmembrane 7 superfamily member 1-like 1 protein protein-coding ENSG00000173264 HGNC:24300 12600 VALIDATED 1316484 GPR137B G protein-coupled receptor 137B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of plasma membrane (inferred); lysosome (inferred); membrane (inferred); INTERACTS WITH (-)-demecolcine; actinomycin D; all-trans-retinoic acid 1 1 1 q42-q43 209555229 209621629 + 236305832 236415314 + 236142532 236251662 + 1580863;6480464;8554872 12446740;12477932;15489334;21107309;8125298;9521871 7107 H0Y509;O60478;Q5TAF0 ABBA01033154;ABBA01033155;AF027826;AI634648;AK223632;AK295408;AK301552;AK312908;AL122018;AL139162;AL450309;AMYH02002960;AMYH02002961;AMYH02002962;AY242135;BC012100;CH471098;CR541770;NM_003272;XM_005273244;XR_247039 AAC39669;AAH12100;AAO92302;BAD97352;BAG35754;BAG58359;BAG63048;CAG46569;EAW70043;EAW70044;NP_003263;O60478;XP_005273301 Hs.498160 1645888;1664942;1687900;1712192;2129258;2140060;2218834 G54147;RH76461;SHGC-63657;SHGC-64303;SHGC-76532;SHGC-76568;TM7SF1__5272 TM7SF1 OTTHUMP00000036106;OTTHUMP00000036107;integral membrane protein GPR137B;transmembrane 7 superfamily member 1 (upregulated in kidney);transmembrane 7 superfamily member 1 protein protein-coding ENSG00000077585 HGNC:11862 06878 604658 VALIDATED 1603253 GPR137C G protein-coupled receptor 137C FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-fluorouracil; benzo[a]pyrene; copper(2+) sulfate 14 14 14 q22.1 32887453 32972040 + 53019866 53104431 + 52553148 52637713 + 6480464 12679517;16341674;23535732 283554 B3KW22;H0YFL6;H0YJZ7;Q6AWC7;Q8N3F9 ABBA01018165;AK123953;AK293812;AL133453;AL157971;AL834372;AMYH02029192;AMYH02029193;AW470753;AY255590;BM842962;BX647179;CH471078;NM_001099652;XM_005267542 AAI60121;AAO85102;BAG53984;BAG57218;CAD39035;CAH10564;EAW65648;NP_001093122;Q8N3F9;XP_005267599 Hs.416214 2136675;2159330;2177011 D14S942;G35851;RH65505 DKFZp762F0713;TM7SF1L2 G protein-coupled receptor TM7SF1L2;OTTHUMP00000245097;OTTHUMP00000245098;integral membrane protein GPR137C;transmembrane 7 superfamily member 1-like 2 protein protein-coding ENSG00000180998 HGNC:25445 PROVISIONAL 1323337 GPR139 G protein-coupled receptor 139 ENCODES a protein that exhibits neuropeptide receptor activity (inferred); protein dimerization activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); lead diacetate (ortholog) 16 16 16 p12.3 19191989 19234374 - 20042981 20085100 - 20031659 20073778 - 6480464;8554872 11863363;12044878;12477932;12679517;15777626;15845401;23527680 124274 J3KPI8;Q6DWJ6 AB196529;ABBA01028273;ABBA01028274;ABBA01028275;ABBA01028276;AC021089;AJ303165;AK291384;AMYH02031656;AY255545;AY635179;BC137237;BC137238;BC144547;CH471186;NM_001002911;XM_005255114 AAI37238;AAI37239;AAO85057;AAT65818;BAD97440;BAF84073;CAC33085;EAW50306;NP_001002911;Q6DWJ6;XP_005255171 Hs.446875 1669616;2110433;2124949 B354YF9;D16S780;GPR139__7538 GPRg1;PGR3 G protein-coupled receptor PGR3;G-protein-coupled receptor PGR3;g(q)-coupled orphan receptor GPRg1;probable G-protein coupled receptor 139 protein-coding HGNC:19995 17062 VALIDATED 736698 GPR141 G protein-coupled receptor 141 GPR141 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008] 7 7 7 p14.1 37764438 37765355 + 37570212 37781888 + 37530609 37742286 + 1302390;6480464 14623098 12477932;12679517;12690205;15489334;23251661 353345 C9JDP7;Q7Z602 ABBA01056918;AC009530;AC083860;AC083865;AMYH02015547;AY255538;AY288420;BC120951;BC120952;CH236951;CH471073;KF458442;KF511032;NM_181791;XM_005249744 AAI20952;AAI20953;AAO85050;AAP72129;EAL23980;EAW94082;NP_861456;Q7Z602;XP_005249801 Hs.688230 PGR13 G-protein coupled receptor PGR13;OTTHUMP00000128301;OTTHUMP00000207130;probable G-protein coupled receptor 141 APPROVED protein-coding ENSG00000187037 HGNC:19997 16423 609045 PROVISIONAL 1352818 GPR142 G protein-coupled receptor 142 GPR142 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 68956409 68961516 + 72363532 72369104 + 74367393 74372965 + 1302390;1580863;6480464;8554872 14623098 12477932;12679517;15845401;18029348;22889411 350383 J3QLF2;J3QSD0;Q7Z601 AB065914;AB196530;ABBA01028840;AC055863;AC103809;AMYH02033975;AY255622;AY288421;BC143807;CH471099;NM_181790;XM_005257305 AAI52735;AAI52988;AAO85134;AAP72130;BAC06129;BAD97441;EAW89157;EAW89158;NP_861455;Q7Z601;XP_005257362 Hs.574368 1753955;1797602 GPR142_2580;SHGC-89363 PGR2 G-protein coupled receptor PGR2;probable G-protein coupled receptor 142 APPROVED protein-coding ENSG00000257008 HGNC:20088 16424 609046 PROVISIONAL 1353035 GPR143 G protein-coupled receptor 143 This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009] X X X p22.3 13865374 13905925 - 9693453 9734005 - 9725413 9765965 - 1580863;6480464;7240710;8554872;8699517 10094567;10471510;11115845;11214907;11793467;12477932;12538723;12643545;12868035;16524428;16621890;16646960;16754205;17081065;17516023;17822861;17960122;18523664;18798082;18828673;18978956;19123159;19390656;19604113;19610097;19717472;20301517;20649618;20861488;21348135;21423867;21541274;21730137;21931697;22486324;22916221;23535732;24301936;2573275;7647783;8230160;8634705;9529334;9887374 4935 C9J9N1;H7BZN6;P51810 ABBA01070748;ABBA01070749;ABBA01070750;AC003036;AC090481;AMYH02038833;AMYH02038834;BC015657;BC068977;BU188283;CH471074;NG_009074;NM_000273;XM_005274541;XM_005274542;Z48804 AAH68977;CAA88742;EAW98773;NP_000264;P51810;XP_005274598;XP_005274599 Hs.74124 1298097;1744973;1771168;1792266;2112838;2217376;5117608 D1S1665;DXS9850;GDB:591575;GDB:591618;GPR143_2945;PMC140306P1;SGC31598 NYS6;OA1 G-protein coupled receptor 143;OTTHUMP00000022884;OTTHUMP00000022885;ocular albinism 1;ocular albinism type 1 protein APPROVED protein-coding ENSG00000101850 HGNC:20145 02355 300500;300808;300814 REVIEWED 1345193 GPR143P G protein-coupled receptor 143 pseudogene Y Y Y p11.2 2242148 2248255 + 6968439 6974546 - 7100398 7106505 - 12815422 352896 ABBA01034843;AC012068;NG_002814 5021792;5116188;5116214;5116216 sY2802;sY2803;sY2820;sY2822 OA1P pseudo HGNC:18499 INFERRED 1350453 GPR144 G protein-coupled receptor 144 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); neuropeptide signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred) 9 9 9 q33.3 97860643 97886596 + 127213423 127239379 + 124451144 124477100 + 8554872 12679517;14702039;15164053;15203201;18845549;20379614 347088 Q7Z7M1 AB065601;ABBA01043748;ABBA01043749;AK022431;AL137846;AMYH02021627;AY255620;AY278562;CH471090;EF107715;EF107716;EF107717;EF107718;XM_006710216;XM_006717348;XM_006726503 AAO85132;AAP35064;ABK96967;ABK96968;ABK96969;ABK96970;BAC05829;EAW87586;EAW87587;EAW87588;EAW87589;EAW87590;Q7Z7M1;XP_006710279;XP_006717411;XP_006726566 Hs.454099 1335180;2157335;5020946;5022578;5022651;5037552;5118444 D11S2921;D11S3316;D1S1423;D8S2279;D9S778;L17971;SHGC-8113 PGR24 G protein-coupled receptor PGR24;G-protein coupled receptor GPR144;G-protein coupled receptor PGR24;OTTHUMP00000163069;probable G-protein coupled receptor 144 protein-coding HGNC:18651 17063 MODEL 1345247 GPR146 G protein-coupled receptor 146 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; kojic acid 7 7 7 p22.3 1064897 1066653 + 1084218 1098905 + 1054858 1059269 + 1580863;6480464 12477932;12679517;12690205;15489334;15777626;23980258;24097068 115330 A4D2Q3;C9J5X5;C9JAQ6;Q96CH1 ABBA01039318;AC073957;AK300166;AK313171;AMYH02015037;AX646823;AX665926;AY255535;BC014241;CH236965;CH471144;NM_138445;XM_005249613;XM_005249615;XM_006715642;XM_006715643;XM_006715644 AAH14241;AAO85047;ABM83585;ABM86825;BAG35988;BAG61948;CAD69537;CAD82888;EAL23710;EAW87191;EAW87192;NP_612454;Q96CH1;XP_005249670;XP_005249672;XP_006715705;XP_006715706;XP_006715707 Hs.585007;Hs.718624 1797604;2166947 GPR146_2063;SHGC-34866 PGR8 G protein-coupled receptor PGR8;G-protein coupled receptor PGR8;OTTHUMP00000115491;OTTHUMP00000200092;OTTHUMP00000200093;probable G-protein coupled receptor 146 protein-coding ENSG00000164849 HGNC:21718 17064 PROVISIONAL 1347773 GPR148 G protein-coupled receptor 148 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred) 2 2 2 q21.1 125085792 125087058 - 131486643 131487909 + 130729070 130730336 + 8554872 12044878;12477932;12679517;15489334;15688318;15777626;22543972 344561 Q8TDV2 AB083589;ABBA01019372;AC140481;AMYH02004798;AY255532;AY280965;AY569570;BC105013;BC105041;CH471250;NM_207364 AAI05014;AAI05042;AAO85044;AAP34196;AAS76892;BAB89302;EAW51274;NP_997247;Q8TDV2 Hs.452574 1725327;2217378;5493255 GPR148_3158;RH118981;UniSTS:485466 BTR;PGR6 G protein-coupled receptor PGR6;G-protein coupled receptor PGR6;OTTHUMP00000162427;brain and testis restricted GPCR;probable G-protein coupled receptor 148 protein-coding ENSG00000173302 HGNC:23623 13598 VALIDATED 1346454 GPR149 G protein-coupled receptor 149 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN antral ovarian follicle growth (inferred); G-protein coupled receptor signaling pathway (inferred); negative regulation of ovulation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4',5-pentachlorobiphenyl (ortholog) 3 3 3 q25.2 152476120 152567869 - 154055461 154147504 - 154337672 154429715 - 1580863;6480464;8554872 12679517;20379614 344758 Q2MKA6;Q86SP6 ABBA01058870;AC092946;AMYH02007942;AMYH02007943;AMYH02007944;AMYH02007945;AY255534;CH471052;DQ318360;NM_001038705 AAI56850;AAO85046;ABC49857;EAW78760;NP_001033794;Q86SP6 Hs.688231 1341516;1722799;2109361 D3S3710;G60341;GPR149_3138 IEDA;PGR10 G protein-coupled receptor PGR10;G-protein coupled receptor PGR10;OTTHUMP00000214132;probable G-protein coupled receptor 149 protein-coding ENSG00000174948 HGNC:23627 PROVISIONAL 1315368 GPR15 G protein-coupled receptor 15 This gene encodes a G protein-coupled receptor that acts as a chemokine receptor for human immunodeficiency virus type 1 and 2. The encoded protein localizes to the cell membrane. [provided by RefSeq, Nov 2012] 3 3 3 q11.2-q13.1 96642535 96643617 + 98250743 98251994 + 98531899 98533150 + 1580863;6480464 10985245;11696454;12477932;12555203;12566994;15489334;15650194;15992849;17207965;21189250;22086059;23430259;23661644;23772394;8838812;9230441;9236192 2838 B2R8H6;B6V9G9;P49685 ABBA01026929;AC021660;AK313375;AMYH02007287;BC069437;BC101779;BC101781;CH471052;FJ348263;JA738781;NM_005290;U34806 AAC50826;AAH69437;AAI01780;AAI01782;ACI96307;ADQ31969;BAG36173;CCF77043;EAW79855;NP_005281;P49685 Hs.563128 1659551;1791342;1795938;2113752;5492447;5493289 GPR15;GPR15_962;PMC104479P1;RH70610;UniSTS:481106;UniSTS:485610 BOB;MGC126828;MGC126830 G-protein coupled receptor 15;OTTHUMP00000217372;brother of Bonzo protein-coding ENSG00000154165 HGNC:4469 03102 601166 REVIEWED 1343055 GPR150 G protein-coupled receptor 150 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; arsenite(3-); fonofos 5 5 5 q15 90834411 90835715 + 94955980 94957284 + 95620276 95621580 + 1580863;6480464 12477932;12679517;15777626 285601 G4XH61;Q8NGU9 AB065678;ABBA01069249;AC008547;AMYH02011822;BC030197;CH471084;JF810884;NM_199243 AAH30197;AAI56089;AEP43751;BAC05903;EAW96041;NP_954713;Q8NGU9 Hs.143315 5493469 UniSTS:486627 PGR11 OTTHUMP00000149983;probable G-protein coupled receptor 150;seven transmembrane helix receptor protein-coding HGNC:23628 11012 PROVISIONAL 1350857 GPR151 G protein-coupled receptor 151 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH tetracycline (ortholog) 5 5 5 q32 141975876 141977135 - 145894417 145895676 - 146514854 146516113 - 1580863;6480464;8554872 12044878;12679517;15111018 134391 Q8TDV0 AB065674;AB083592;ABBA01026338;AC011375;AMYH02012413;AY255557;AY351676;CH471062;NM_194251 AAI40431;AAI56568;AAO85069;AAQ62567;BAB89305;BAC05899;EAW61839;NP_919227;Q8TDV0 Hs.483732 1797606;2149217 GPR151_2583;RH66752 GALR4;GALRL;GPCR;PGR7 G-protein coupled receptor PGR7;GPCR-2037;OTTHUMP00000223942;galanin receptor 4;galanin receptor-like;probable G-protein coupled receptor 151;putative G-protein coupled receptor protein-coding HGNC:23624 17065 PROVISIONAL 1354216 GPR152 G protein-coupled receptor 152 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH paracetamol (ortholog) 11 11 11 q13.2 64551972 64553400 - 67218772 67220200 - 67451301 67452729 - 1580863;6480464;8554872 12044878;12477932;12679517;15489334;15777626 390212 Q8TDT2 AB065853;AB083620;ABBA01024032;AMYH02024997;AP003419;AY255600;AY569571;BC119779;BC122869;NG_021211;NM_206997 AAI19780;AAI22870;AAO85112;AAS76893;BAB89333;BAC06071;NP_996880;Q8TDT2 Hs.567997 MGC148162;PGR5 G protein-coupled receptor PGR5;OTTHUMP00000237644;probable G-protein coupled receptor 152 protein-coding ENSG00000175514 HGNC:23622 13599 VALIDATED 1319513 GPR153 G protein-coupled receptor 153 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; calcitriol 1 1 1 p36.31 5421910 5435545 - 6307406 6321035 - 6247346 6260975 - 6480464;8554872 12477932;12679517;15489334;15777626;16710414;21822266;22797925 387509 Q6NV75 ABBA01035441;ABBA01035442;AL031847;AMYH02000169;AMYH02000170;AMYH02000171;AY255529;BC068275;BQ575651;CH471130;CR627473;NM_207370 AAH68275;AAO85041;CAH10674;EAW71526;NP_997253;Q6NV75 Hs.531581 1649831 SHGC-74146 DKFZp762B2210;PGR1 G-protein coupled receptor PGR1;OTTHUMP00000001391;probable G-protein coupled receptor 153 protein-coding ENSG00000158292 HGNC:23618 13600 614269 VALIDATED 1319348 GPR155 G protein-coupled receptor 155 INVOLVED IN cognition; FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; ethyl methanesulfonate 2 2 2 q31.1 168909805 168965228 - 175296299 175351816 - 174431571 174487088 - 1580863;6480464 11076863;11230166;12477932;12679517;14702039;15489334;15489336;15815621;16381901;17519220;19056867;20379614;21139048 151556 Q49AJ5;Q7Z3F1 ABBA01062188;ABBA01062189;ABBA01062190;ABBA01062191;ABBA01062192;AC010894;AC018470;AK056381;AK091200;AK096665;AK307896;AK315125;AL834154;AMYH02005274;AMYH02005275;AMYH02005276;AY255528;BC028730;BC035037;BC036681;BI548910;BX537947;CH471058;DC334438;NM_001033045;NM_001267050;NM_001267051;NM_152529;XM_006712343 AAH28730;AAH35037;AAH36681;AAO85040;AAY14707;AAY24218;ABM82655;ABM85832;BAB71170;BAC03609;BAC04835;BAG37579;CAD97915;CAH10683;CAL38088;EAX11137;EAX11138;EAX11139;NP_001028217;NP_001253979;NP_001253980;NP_689742;Q7Z3F1;XP_006712406 Hs.516604;Hs.741466 1698488;1797608;5015404;5015619;5015861;5015959;5016478;5020881;5021872;5022425;5022463;5022651;5037552;7185938 D10S16;D10S2448;D11S2921;D11S3114;D22S296;D3S1673;D8S2279;GDB:434012;GPR155_2293;L17705;L17709;RH102794;sY3084 DEP.7;DEPDC3;FLJ31819;FLJ39346;PGR22 G-protein coupled receptor PGR22;OTTHUMP00000163174;OTTHUMP00000163175;OTTHUMP00000163176;integral membrane protein GPR155 protein-coding ENSG00000163328 HGNC:22951 17066 VALIDATED 736790 GPR156 G protein-coupled receptor 156 G protein-coupled receptors (GPCRs) are a large superfamily of cell surface receptors characterized by 7 helical transmembrane domains, together with N-terminal extracellular and C-terminal intracellular domains.[supplied by OMIM, Mar 2008] 3 3 3 q13.33 118294084 118372514 - 119884328 120003921 - 120165481 120285074 - 1299444;1580863;6480464;8554872 12591167 12477932;12679517;15203218;15489334;20677014 165829 F8WAW3;Q8NFN8 AB209362;ABBA01061568;AC063952;AC092897;AF488739;AI201720;AMYH02007509;AY255565;BC113701;BC143606;BX115336;CD638213;CH471052;NM_001168271;NM_153002;XM_005247165 AAI13702;AAI43607;AAN03795;AAO85077;ADR83404;BAD92599;EAW79530;NP_001161743;NP_694547;Q8NFN8;XP_005247222 Hs.333358 1797610;2125848 D3S2364;GPR156_2124 MGC142261;PGR28;ZK180.1-like G protein-coupled receptor PGR28;G-protein coupled receptor PGR28;GABAB-related G-protein coupled receptor;GABABL;OTTHUMP00000215176;OTTHUMP00000215177;probable G-protein coupled receptor 156 APPROVED protein-coding ENSG00000175697 HGNC:20844 17067 610464 VALIDATED 1322370 GPR157 G protein-coupled receptor 157 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; afimoxifene; paracetamol 1 1 1 p36.23 8273844 8298831 - 9163472 9189229 - 9103410 9129170 - 6480464 10574461;12477932;14702039;15489334;16710414 80045 K7ERQ3;Q5UAW9 ABBA01035536;ABBA01035537;AK022194;AK026883;AK292888;AK304154;AL158048;AMYH02000232;AMYH02000233;AY768808;KF495856;NM_024980;XM_005263496;XM_005263497 AAI56510;AAI72507;AAV35060;ABM83730;ABM87050;BAB13982;BAF85577;BAG65043;NP_079256;Q5UAW9;XP_005263553;XP_005263554 Hs.632367 1698548;2129792;5015861;7185938 D10S16;RH102826;SHGC-74180 FLJ12132 OTTHUMP00000082681;probable G-protein coupled receptor 157 protein-coding HGNC:23687 17068 VALIDATED 1314117 GPR158 G protein-coupled receptor 158 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); protein localization to plasma membrane (inferred); regulation of G-protein coupled receptor protein signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH arsenite(3-); cyclosporin A; trichostatin A 10 10 10 p12.1 25165702 25598388 + 25464290 25891158 + 25175361 25602229 + 6480464;8554872 10574461;12168954;14702039;15164054;16229975;16385451;18649358;18655026;20379614;22542470;23382691;23451275;24324551 57512 Q5T848 AB032962;ABBA01034428;ABBA01034429;ABBA01034430;ABBA01034431;AK095120;AL139821;AL161654;AL354976;AL355587;AMYH02022484;AMYH02022485;AMYH02022486;AMYH02022487;AMYH02022488;AMYH02022489;AMYH02022490;AY528411;NM_020752 AAI56399;AAI57125;AAS18315;BAA86450;NP_065803;Q5T848 Hs.499108 1337089;1653923;1712971;1716167;1779744;1780198;1782102;2154863;2155445;2217380;7186929 A004G15;D10S572;G17491;GPR158_3664;RH120575;RH121106;SHGC-13722;SHGC-153722;SHGC-154563;SHGC-154756 FLJ37801;KIAA1136;RP11-59G22.1 OTTHUMP00000019333;probable G-protein coupled receptor 158 protein-coding ENSG00000151025 HGNC:23689 13601 614573 VALIDATED 6767363 GPR158-AS1 GPR158 antisense RNA 1 10 10 10 p12.1 25148414 25166617 - 25447001 25465205 - 25158072 25176276 - 14702039 100128811 ABBA01034431;AK094758;AL139821;AMYH02022482;AMYH02022483;AMYH02022484;NR_027333 Hs.700407 1782102 SHGC-154756 APPROVED ncrna ENSG00000233642 HGNC:44163 PREDICTED 1345785 GPR160 G protein-coupled receptor 160 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN receptor complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 3 3 3 q26.2-q27 168155041 168202500 + 169755735 169803184 + 170037947 170085396 + 1580863;6480464;8554872 11466977;12044878;12477932;15489334;19851296;20198315 26996 C9J0J1;C9JBW1;C9JTZ7;C9JUZ9;Q9UJ42 AB083583;ABBA01058696;AC008040;AI560646;AJ249248;AK311293;AMYH02008106;AMYH02008107;BC000181;BX366931;BX400356;BX414005;CH471052;KF457716;NM_014373;XM_005247346;XM_005247347;XM_006713582;XM_006713583;XM_006713584 AAH00181;BAB89296;CAB55314;EAW78524;EAW78525;EAW78526;NP_055188;Q9UJ42;XP_005247403;XP_005247404;XP_006713645;XP_006713646;XP_006713647 Hs.231320 1689454;1707300;2159332;2183686;5123549 D3S3468;RH91965;SHGC-36404;SHGC-77526;SHGC-79254 GPCR1;GPCR150;hGPCR1 G-protein coupled receptor GPCR1;OTTHUMP00000213455;OTTHUMP00000213456;OTTHUMP00000213457;OTTHUMP00000213458;OTTHUMP00000213459;OTTHUMP00000213460;probable G-protein coupled receptor 160;putative G protein-coupled receptor protein-coding ENSG00000173890 HGNC:23693 17069 VALIDATED 1607069 GPR161 G protein-coupled receptor 161 Upon ligand binding, G protein-coupled receptors, such as GPR161, activate cytoplasmic G proteins (see GNAS, MIM 139320), allowing the receptors to transduce extracellular signals across the plasma membrane into the cell. Phosphorylation of the receptor attenuates signaling (Matteson et al., 2008 [PubMed 18250320]).[supplied by OMIM, Aug 2008] 1 1 1 q24.2 141162980 141214616 - 168048780 168106905 - 168079542 168137667 - 6480464;8554872 11959142;11987825;12477932;14702039;15489334;16710414;18250320;19064610;19536175;23455922;24599592;9932290 23432 Q8N6U8 AA662800;ABBA01047235;AF091890;AK026059;AK056040;AK091271;AK095302;AK122656;AK298797;AK298850;AK299634;AK310019;AL033532;AMYH02002098;AMYH02002099;AY275468;BC028163;CH471067;NM_001267609;NM_001267610;NM_001267611;NM_001267612;NM_001267613;NM_001267614;NM_153832;XM_005245055;XM_005245056;XM_005245057;XM_006711251;XM_006711252;XM_006711253 AAC61598;AAH28163;AAP32300;ABM84295;ABM87688;BAC03624;BAG51611;BAG53646;BAH12873;BAH12884;BAH13082;EAW90818;EAW90819;NP_001254538;NP_001254539;NP_001254540;NP_001254541;NP_001254542;NP_001254543;NP_722561;Q8N6U8;XP_005245112;XP_005245113;XP_005245114;XP_006711314;XP_006711315;XP_006711316 Hs.271809 1334882;1690053;1696498;1797612;1850730;5015619;5109281;5123931 A004N15;D11S3114;D1S1425;D1S2799;GPR161_2270;RH98556;SHGC-83134;WI-13488 FLJ33952;RE2 G-protein coupled receptor 161;G-protein coupled receptor RE2;OTTHUMP00000032586;OTTHUMP00000032587;OTTHUMP00000032588 APPROVED protein-coding ENSG00000143147 HGNC:23694 17070 612250 VALIDATED 1603661 GPR162 G protein-coupled receptor 162 This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be mainly expressed in the brain; however, its function is not known. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 12 12 12 p13 8548244 8553865 + 6930963 6936583 + 6821797 6827418 + 6480464 12477932;15489334;15777626;19773279;8723724;9074930 27239 J3KPJ9;Q16538;U3KQI6 AB209836;ABBA01017660;AK296359;AK315938;AK316512;AMYH02025955;BC002353;BC007918;BC080585;CH471116;KF511183;NM_014449;NM_019858;U47924;U47925;U47928;U47929 AAB51310;AAB51311;AAC50463;AAC50466;AAH02353;AAH07918;AAH80585;ADZ15880;BAD93073;BAH12329;BAH14309;BAH14883;EAW88735;EAW88736;EAW88737;NP_055264;NP_062832;Q16538 Hs.631654 1736304;1795520;1848051;2125773;2144935;2176194;2219102;5491679 A007D38;CD4_1639;D12S1245E;GRCA__6662;MARC_7617-7618:996688022:1;RH78647;STS-U47924;WI-21968 A-2;FLJ78837;GRCA OTTHUMP00000238650;OTTHUMP00000238652;OTTHUMP00000238653;gene rich cluster, A;gene-rich cluster gene A protein;probable G-protein coupled receptor 162 APPROVED protein-coding ENSG00000250510 HGNC:16693 13608 REVIEWED 1603814 GPR165P G protein-coupled receptor 165 pseudogene X X X q12 66008191 66008902 + 65657809 65661621 + 66437967 66441779 + 15777626 392486 ABBA01067124;AL592049;AMYH02039624;AX229902;NG_005303 PGR15 pseudo HGNC:21462 VALIDATED 1606358 GPR166P G protein-coupled receptor 166 pseudogene 6 6 6 p21.2 38259825 38260526 + 36704887 36705660 + 36737110 36737883 + 12044878 442206 Q8TDV1 AB083591;ABBA01038267;AMYH02013558;NG_025935;Z85996 BAB89304 GPCR;PGR9 pseudo HGNC:23626 INFERRED 1347471 GPR17 G protein-coupled receptor 17 ENCODES a protein that exhibits chemokine receptor activity (inferred); G-protein coupled receptor activity (inferred); INVOLVED IN chemokine-mediated signaling pathway (inferred); G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; arsenous acid; diarsenic trioxide 2 2 2 q21 121714385 121721160 + 128403439 128410213 + 127645864 127652639 + 1580863;6480464 12477932;15489334;16344560;16754659;16990797;18533035;19625605;20148890;21261596;21531793;23288840;23801362;23908386;24150254;2834384;8558062;9092554;9523551 2840 C9JWY5;G4XH68;Q13304 ABBA01040200;AC010976;AC074114;AK126849;AK292725;AK313949;AMYH02004735;AMYH02004736;BC013202;BC031653;BC039595;BX538082;CH471103;DA154324;DA314295;DA366480;DA390892;JF810891;KF510755;NM_001161415;NM_001161416;NM_001161417;NM_005291;U33447;Y12546;Z94154;Z94155 AAB16746;AAH31653;ABM83379;ABM86591;AEP43758;BAF85414;BAG36667;BAG54380;CAA73144;CAB08107;CAB08108;CAD98006;EAW95337;NP_001154887;NP_001154888;NP_001154889;NP_005282;Q13304 Hs.46453;Hs.736277 1665515;1709056;2119539;2150421;2181774 A008U17;RH70603;RH78384;SHGC-85672;WI-13493 DKFZp686M18273;R12 G-protein coupled receptor 17;OTTHUMP00000162268;OTTHUMP00000203864;P2Y-like receptor;UDP/CysLT receptor;uracil nucleotide/cysteinyl leukotriene receptor protein-coding ENSG00000144230 HGNC:4471 04351 603071 VALIDATED 1353149 GPR171 G protein-coupled receptor 171 ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chloroprene (ortholog) 3 3 3 q25.1 149328392 149333761 - 150915537 150920997 - 151197750 151203210 - 737633;1580863;6480464;8554872 12477932 11524702;17192395;7566098;9370294 29909 C9JR91;O14626 AA353758;ABBA01058913;AC078816;AF002986;AF411849;AMYH02007897;BC036815;CH471052;HI574190;NG_021244;NM_013308;XM_005247402;XM_005247403 AAC51846;AAH36815;AAL47763;ABM81867;ABM85027;CBX47584;EAW78811;EAW78812;NP_037440;O14626;XP_005247459;XP_005247460 Hs.549152 H963 F730001G15Rik;G-protein coupled receptor H963;OTTHUMP00000216781;OTTHUMP00000216782;platelet activating receptor homolog;probable G-protein coupled receptor 171 protein-coding ENSG00000174946 HGNC:30057 17071 VALIDATED 1347737 GPR173 G protein-coupled receptor 173 This gene encodes a member of the G-protein coupled receptor 1 family. This protein contains 7 transmembrane domains and conserved cysteine residues. [provided by RefSeq, Nov 2009] X X X p11 56934390 56936128 + 53078506 53109797 + 53049324 53080615 + 70648;1580863;6480464 10833454 12477932;15489334;18029348;19377476;8889548 54328 J3KPD1;Q9NS66 AB040801;ABBA01056357;ABBA01056358;ABBA01056359;ABBA01056360;ABBA01056361;ABBA01056362;ABBA01056363;ABBA01056364;ABBA01056365;ABBA01056366;ABBA01056367;ABBA01056368;ABBA01056369;AMYH02039456;AMYH02039457;AMYH02039458;BC009861;BI602566;BM670611;BX322635;CA445634;CH471154;CS382016;FB764508;NG_015966;NM_018969 AAH09861;ABM84202;ABM87606;BAA96647;CAL39132;CAV30662;EAW93142;NP_061842;Q9NS66 Hs.193011 1337786;1680581;1702884;1739689;1796726;2109363;2125506 DXS1008E;DXS7563;DXS8062;GPR173_9777;RH99258;SE20-4_1202;STS-N33443 SREB3 OTTHUMP00000023334;g-protein coupled receptor 173;probable G-protein coupled receptor 173;super conserved receptor expressed in brain 3 APPROVED protein-coding ENSG00000184194 HGNC:18186 02220 300253 REVIEWED 1345699 GPR174 G protein-coupled receptor 174 This gene encodes a protein belonging to the G protein-coupled receptor superfamily. These proteins are characterized by the presence of seven alpha-helical transmembrane domains, and they activate or interact with various endogenous or exogenous ligands, including neurotransmitters, hormones, and odorant and taste substances. This family member is classified as an orphan receptor because the cognate ligand has not been identified. [provided by RefSeq, Sep 2011] X X X q21.1 78666761 78668018 + 78400512 78430815 + 79170972 79172229 + 1580863;6480464 12044878;12477932;15489334;15772651;20880198;23178570;23612905;23667180;24289805;24602016 84636 Q9BXC1 AB083599;ABBA01030181;AF345567;AL590222;AMYH02039833;AY242133;BC104922;BC104924;CH471104;JA738677;NG_016565;NM_032553 AAI04923;AAI04925;AAK29070;AAO92300;BAB89312;CCF76991;EAW98593;NP_115942;Q9BXC1 Hs.326713 1336496;2109309;5492967 DXS8082;FKSG79__6728;UniSTS:483457 FKSG79;GPCR17;LYPSR3 OTTHUMP00000023600;probable G-protein coupled receptor 174 APPROVED protein-coding ENSG00000147138 HGNC:30245 06512 300903 VALIDATED 737562 GPR176 G protein-coupled receptor 176 Members of the G protein-coupled receptor family, such as GPR176, are cell surface receptors involved in responses to hormones, growth factors, and neurotransmitters (Hata et al., 1995 [PubMed 7893747]).[supplied by OMIM, Jul 2008] 15 15 15 q14-q15.1 16856199 16976371 - 40091223 40213093 - 39799022 39920892 - 6480464;8554872 12477932;15489334;16712791;20379614;20677014;21139048;7893747 11245 B4DZ23;H9NIL9;J3KNC6;Q14439 ABBA01038468;ABBA01038469;ABBA01038470;ABBA01038471;AC012377;AC023908;AK302715;AMYH02030229;AMYH02030230;BC067106;CB106487;CH471125;D38449;JQ308174;NM_001271854;NM_001271855;NM_007223;XM_005254139;XM_006720379 AAH67106;AFF59484;BAA07481;BAG63935;EAW92385;EAW92386;NP_001258783;NP_001258784;NP_009154;Q14439;XP_005254196;XP_006720442 Hs.37196 1340891;1665875;1705760;1713509;2124162;2170695 A008K26;D15S146;RH120239;RH17437;SHGC-31667;SHGC-83477 GPR;Gm1012;HB-954 OTTHUMP00000160314;probable G-protein coupled receptor 176;putative G protein coupled receptor APPROVED protein-coding ENSG00000166073 HGNC:32370 13597 612183 VALIDATED 1601901 GPR179 G protein-coupled receptor 179 This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012] 17 17 17 q21.1 1184 10041 + 36481493 36499693 - 38325610 38343810 - 6480464;8699517;7240710;8554872 16229975;16625196;21906983;22325361;22325362;23535730;23714322 440435 Q6PRD1 ABBA01031930;AC115992;AC183084;AC244092;AY584611;JC182963;NG_032655;NM_001004334 AAI72753;AAS91740;CDM21940;NP_001004334;Q6PRD1 Hs.462915 1858333 STS-F09642 CSNB1E;GPR158L;GPR158L1 GPR158-like;GPR158-like 1;OTTHUMP00000163081;probable G-protein coupled receptor 158-like 1;probable G-protein coupled receptor 179 APPROVED protein-coding ENSG00000277399 HGNC:31371 13602 614515;614565 REVIEWED 1344300 GPR18 G protein-coupled receptor 18 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH arsenous acid; benzo[a]pyrene; cyclophosphamide 13 13 13 q32 80750537 80754253 - 99906967 99910682 - 99254713 99261895 - 1580863;6480464 11991713;12477932;15057823;15489334;16844083;18577758;20880198;21261596;23128233;9205118 2841 H9NIM1;Q14330;Q5JUH9 AA825595;ABBA01027126;AF261135;AF339781;AL160155;AMYH02028588;BC008569;BC050646;BC066927;BI770379;BT009907;CH471085;JQ308176;L42324;NM_001098200;NM_005292;XM_006719946 AAB65819;AAG44671;AAH08569;AAH50646;AAH66927;AAP88909;AFF59486;EAX09017;NP_001091670;NP_005283;Q14330;XP_006720009 Hs.741589 1675575;1797614 GPR18_2306;RH98849 G-protein coupled receptor 18;N-arachidonyl glycine receptor;NAGly receptor;OTTHUMP00000018613;OTTHUMP00000018614 protein-coding ENSG00000125245 HGNC:4472 03621 602042 VALIDATED 1604518 GPR180 G protein-coupled receptor 180 This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [provided by RefSeq, Jul 2008] 13 13 13 q32.1 76102074 76129910 + 95254104 95286899 + 94601850 94634645 + 6480464 11991713;12477932;12538434;12730718;14702039;15057823;15489334;16344560;19322201;24250222 160897 Q6ZT96;Q86V85 ABBA01027208;AF339784;AI016274;AK024059;AK126794;AK289850;AL049452;AL359708;AL832739;AL832853;AMYH02028506;BC033906;BC052243;BG112926;BI856811;BX348762;CA435391;CD110068;CH471085;DB150630;NM_180989 AAH52243;BAC86697;BAF82539;CAI46124;EAX08942;EAX08943;EAX08944;NP_851320;Q86V85 Hs.439363 1643854;1649411;1738381;2173572;2219836 A008J34;D13S655E;ITR__6484;WI-14300;WI-18634 DKFZp586C1322;DKFZp667K0825;ITR OTTHUMP00000018556;integral membrane protein GPR180;intimal thickness related receptor;intimal thickness-related receptor APPROVED protein-coding ENSG00000152749 HGNC:28899 16258 607787 REVIEWED 736455 GPR182 G protein-coupled receptor 182 Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 57042285 57044399 + 57388355 57390469 + 56994571 56996685 + 704371;1580863;1625768;6480464;8554872 11676473;12622928 10449538;11712085;11728267;11754983;11883938;11956648;12419522;12477932;12646214;14720432;15489334;17939601;18976975;19847298;23442365;7621913;9016306;9367907;9389548;9535752 11318 O15218;Q6LAJ3 ABBA01008445;ABBA01008446;ABBA01008447;AC026120;AMYH02026577;AY268434;BC034761;CH471054;NM_007264;Y13583;Y15287 AAH34761;AAP23201;ABM81779;ABM87805;CAA73910;CAC79687;EAW96970;NP_009195;O15218 Hs.483909 1676894;1848581;1857397;2174519;2182088 A004P28;D12S1906;RH79858;WI-16799;WI-22389 7TMR;ADMR;AM-R;AMR;G10D;MGC34399;gamrh;hrhAMR G-protein coupled receptor 182;OTTHUMP00000244865;adrenomedullin receptor APPROVED protein-coding ENSG00000166856 HGNC:13708 05605 605307 REVIEWED 1346200 GPR183 G protein-coupled receptor 183 This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008] 13 13 13 q32.3 80790353 80803314 - 99946789 99959749 - 99294535 99307495 - 1580863;6480464 12477932;15489334;16169070;16540462;18628402;21139048;21261596;22875855;22913878;22930711;23128233;23333304;23473835;24480442;25015289;8125298;8383238 1880 P32249 ABBA01027126;AI740732;AK223390;AK292091;AK313443;AL160155;AMYH02028588;AW402166;AW574697;AW575283;BC020752;CH471085;JA738717;L08177;NM_004951 AAA35924;AAH20752;ABM82294;ABM85474;BAD97110;BAF84780;BAG36232;CCF77011;EAX09018;EAX09019;NP_004942;P32249 Hs.784 1650186;1795724;2152221;2181640 EBI2_25;G15934;L08177;WI-18855 EBI2 EBV-induced G-protein coupled receptor 2;Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor);G-protein coupled receptor 183;OTTHUMP00000018611;epstein-Barr virus-induced G-protein coupled receptor 2 APPROVED protein-coding ENSG00000169508 HGNC:3128 12040 605741 REVIEWED 1344105 GPR19 G protein-coupled receptor 19 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of plasma membrane (inferred); INTERACTS WITH all-trans-retinoic acid; calcitriol; cyclosporin A 12 12 12 p12.3 17962526 17997654 - 12813995 12849121 - 12661061 12696187 - 1580863;6480464 10480372;12477932;14702039;16303743;16344560;18029348;22912338;23273568;24250222;8830667 2842 F5GWU2;Q15760;Q6IBH2 ABBA01067846;ABBA01067847;ABBA01067848;AC008115;AK074729;AK096388;AMYH02026062;AMYH02026063;BC150599;CH471094;CQ782654;CR456832;DB022290;JQ308175;NM_006143;U55312;U64871 AAB00316;AAB49751;AAI50600;AFF59485;BAG51993;CAF85902;CAG33113;EAW96271;NP_006134;Q15760 Hs.657862 1679215;1726097;5492631;5493787 G62234;RH36974;UniSTS:481844;UniSTS:494827 GPR-NGA;OTTHUMP00000239223;probable G-protein coupled receptor 19 protein-coding ENSG00000183150 HGNC:4473 04236 602927 VALIDATED 733771 GPR20 G protein-coupled receptor 20 ENCODES a protein that exhibits G-protein coupled receptor activity; INVOLVED IN G-protein coupled receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane; receptor complex; INTERACTS WITH amphotericin B; cisplatin; cyclophosphamide 8 8 8 q24.3 138534610 138545390 - 142366585 142377365 - 141356485 141367265 - 1580863;6480464;8554872 12477932;18347022;21926972;21988832;9073069 2843 Q59GP3;Q99678 AA601037;AB209066;ABBA01013686;AC100803;AMYH02018904;BC117409;CH471060;DR006873;JQ308168;NM_005293;U66579 AAC51302;AAI17410;AFF59478;BAD92303;EAW92227;NP_005284;Q99678 Hs.188859 2132079;5493517 RH71251;UniSTS:486971 G-protein coupled receptor 20;OTTHUMP00000226808 protein-coding ENSG00000204882 HGNC:4475 03550 601908 VALIDATED 1351876 GPR21 G protein-coupled receptor 21 This gene encodes a member of the G-protein-coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. The encoded protein activates a Gq signal transduction pathway which mobilizes calcium. [provided by RefSeq, Nov 2012] 9 9 9 q33 96445158 96446207 + 125795916 125801380 + 123033637 123039101 + 1580863;6480464 12477932;15090189;15489334;22645275;9073069 2844 B4DSD1;H9NIL4;Q99679 ABBA01043718;AC007066;AK299686;AK313539;AMYH02021599;BC066885;BC066886;BC067532;BC067533;BC067534;CH471090;DA792401;DN989991;JQ308169;NM_005294;U66580;XM_005251933 AAC51303;AAH66885;AAH66886;AAH67532;AAH67533;AAH67534;AFF59479;BAG36316;BAG61593;EAW87559;NP_005285;Q99679;XP_005251990 Hs.722039 1797618 GPR21_2093 OTTHUMP00000022075;probable G-protein coupled receptor 21 protein-coding ENSG00000011454 HGNC:4476 03551 601909 REVIEWED 1321987 GPR22 G protein-coupled receptor 22 This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein. [provided by RefSeq, Jul 2008] 7 7 7 q22-q31.1 101915775 101921399 + 107110502 107116125 + 107470057 107475680 + 1580863;6480464 12477932;12690205;12853948;14702039;15955843;16344560;18539757;20112360;21068099;21988832;9073069 2845 A4D0R8;B3KV13;Q3KNS9;Q99680 AB209270;ABBA01057907;AC002381;AK122621;AK307393;AMYH02016513;BC045823;BC107128;BX647649;CH236947;CH471070;DA519131;HC289746;HQ995527;NG_028095;NM_005295;U66581 AAB63815;AAC51304;AAI07129;ADZ31972;BAD92507;BAG53625;CBJ06468;EAL24394;EAW83398;NP_005286;Q99680 Hs.657277 1797620;5493519 GPR22_2242;UniSTS:487004 MGC129847 OTTHUMP00000206927;probable G-protein coupled receptor 22 APPROVED protein-coding ENSG00000172209 HGNC:4477 03552 601910 REVIEWED 1323161 GPR25 G protein-coupled receptor 25 This gene is intronless and encodes a member of the G-protein coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. This gene has been linked to arterial stiffness. [provided by RefSeq, Nov 2012] 1 1 1 q32.1 173966237 173967322 + 200842083 200843306 + 200872955 200874178 + 1580863;6480464 12477932;15489334;17386346;22944692;9020062 2848 O00155 ABBA01027542;AC099756;AK315339;AMYH02002474;BC126386;BC126388;CH471067;NM_005298;U91939 AAB50155;AAI26387;AAI26389;EAW91322;NP_005289;O00155 Hs.534316 5493033;5493827 UniSTS:483906;UniSTS:495173 OTTHUMP00000033936;probable G-protein coupled receptor 25 protein-coding ENSG00000170128 HGNC:4480 03707 602174 REVIEWED 736769 GPR26 G protein-coupled receptor 26 ENCODES a protein that exhibits G-protein coupled receptor activity; INVOLVED IN adenylate cyclase-activating G-protein coupled receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH cadmium atom; hydroquinone O-beta-D-glucopyranoside; kojic acid 10 10 10 q26.13 119131563 119162551 + 125425871 125456915 + 123666355 123697399 + 1580863;6480464;8554872 10684976;11854302;12477932;14702039;15489334;17363172;18037267;19787267;20379614;23247143;8401585 2849 Q8NDV2 ABBA01015460;AC009987;AI076749;AJ505757;AK091093;AL713636;AMYH02023965;BC112011;BC113462;CH471066;NM_153442 AAI12012;AAI13463;CAD44281;EAW49281;EAW49282;NP_703143;Q8NDV2 Hs.12751 1709556;1710262;1711416;1736110;2115285;2132722;2132724;2179927 A005K29;Cda0gg11;D10S1383E;D10S1467;G20286;G42192;SHGC-81866;SHGC-85225 DKFZp761H2121;FLJ33774;MGC138216 G-protein coupled receptor 26;OTTHUMP00000020687 protein-coding HGNC:4481 07275 604847 VALIDATED 733557 GPR27 G protein-coupled receptor 27 GPR27 is a member of the G protein-coupled receptors (GPCRs), a large family of receptors that have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli such as neurotransmitters, hormones, or light induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins.[supplied by OMIM, May 2010] 3 3 3 p21-p14 71733794 71734921 + 71803201 71804328 + 71754050 71755177 + 70648;1580863;6480464 10833454 2850 F1DAM3;Q9NS67 AB040799;AC096970;AMYH02007052;CH471055;CS382012;FB764504;HQ709187;NM_018971 AAI60129;ADZ17394;BAA96645;CAL39130;CAV30660;EAW65505;NP_061844;Q9NS67 Hs.591653 SREB1 OTTHUMP00000213532;probable G-protein coupled receptor 27;super conserved receptor expressed in brain 1 APPROVED protein-coding HGNC:4482 05542 605187 PROVISIONAL 1350754 GPR3 G protein-coupled receptor 3 This gene is a member of the G protein-coupled receptor family and is found in the cell membrane. G protein-coupled receptors, characterized by a seven transmembrane domain motif, are involved in translating outside signals into G protein mediated intracellular effects. The encoded protein activates adenylate cyclase and modulates amyloid-beta production in a mouse model, suggesting that it may play a role in Alzheimer's disease. [provided by RefSeq, Oct 2012] 1 1 1 p36.1-p35 26116440 26119606 + 27719148 27722318 + 27392644 27395814 + 1580863;6480464 12477932;12649592;15489334;15591206;16710414;17953967;19213921;19322201;20158988;21988832;23732663;24069330;7639700;7698767;7832990;7851889;8530049 2827 F1DAM5;P46089 ABBA01034970;AK291185;AK314868;AL096774;AMYH02000599;BC032702;BQ882813;CH471059;FO393419;HQ709189;L32831;NM_005281;U13668;U18550;X83956 AAA64594;AAA73560;AAB60402;AAH32702;ABM81758;ABM84913;ADZ17396;BAF83874;BAG37383;CAA58787;CAC18517;EAX07754;NP_005272;P46089 Hs.66542 1797628;2122152 GPR3_2356;RH70930 ACCA ACCA orphan receptor;G-protein coupled receptor 3;OTTHUMP00000003475;adenylate cyclase constitutive activator protein-coding ENSG00000181773 HGNC:4484 02587 600241 REVIEWED 1313066 GPR31 G protein-coupled receptor 31 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of plasma membrane (inferred); plasma membrane (inferred) 6 6 6 q27 168312713 168313672 - 167570360 167571319 - 167156872 167157831 - 1580863 12477932;14574404;21712392;24133439;9205127 2853 O00270 ABBA01033434;AL121935;AMYH02014976;BC095537;CD246167;CH471051;NM_005299;U65402 AAC51375;AAH95537;AAI67778;EAW47505;NP_005290;O00270 Hs.248124 12-HETER;HETER1 12-(S)-HETE acid receptor;12-(S)-HETE receptor;12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid (HETE) receptor;12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor;G-protein coupled receptor 31;HETER;OTTHUMP00000017616;bA517H2.2 (G protein-coupled receptor 31);hydroxyeicosatetraenoic (HETE) acid receptor 1;probable G-protein coupled receptor 31 protein-coding HGNC:4486 03622 602043 VALIDATED 1343074 GPR32 G protein-coupled receptor 32 This gene is intronless and encodes a member of the G-protein coupled receptor 1 family. The encoded protein binds to resolvin D1 and lipoxin A4 and has been linked to pulmonary inflammation. A related pseudogene has been identified on chromosome 19. [provided by RefSeq, Nov 2012] 19 19 19 q13.33 48324797 48325867 + 51273721 51274989 + 50770464 50771732 + 1580863;6480464;8554872 12477932;15489334;20080636;22542696;24120851;9653656 2854 H9NIL6;O75388 ABBA01068301;AC010325;AF045764;AMYH02036362;BC067453;BC067454;BC095544;CH471135;JQ308171;NM_001506 AAC39801;AAH67453;AAH67454;AAH95544;AFF59481;EAW71898;NP_001497;O75388 Hs.515555 1797624 GPR32_2034 RVDR1 probable G-protein coupled receptor 32;resolvin D1 receptor protein-coding ENSG00000142511 HGNC:4487 04430 603195 REVIEWED 1343447 GPR32P1 G protein-coupled receptor 32, pseudogene 1 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred) 19 19 19 q13.33 48312569 48313635 + 51261490 51262758 + 50758233 50759501 + 12044878;15489334;9653656 2855 Q8NGA4 ABBA01068301;AC010325;AF045765;AMYH02036362;NG_001131 Q8NGA4 GPR32P;hGPCR39 APPROVED pseudo HGNC:4488 INFERRED 1351733 GPR33 G protein-coupled receptor 33 (gene/pseudogene) This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population has been found to harbor an intact allele.[provided by RefSeq, Oct 2010] 14 14 14 q12 11817510 11818500 - 31952150 31957151 - 31482944 31487945 - 6480464 15987686;20399748;9653656 2856 D8VER1;Q49SQ1 ABBA01061423;ABBA01061424;AF045767;AL163973;AMYH02028955;AY494000;GQ981321;GQ981322;KF459682;NM_001197184;NR_036675 AAR98754;ADJ17324;NP_001184113;Q49SQ1 Hs.727479 G protein-coupled receptor 33;G protein-coupled receptor 33 pseudogene;probable G-protein coupled receptor 33 APPROVED protein-coding ENSG00000214943 HGNC:4489 610118 VALIDATED 1349710 GPR34 G protein-coupled receptor 34 G protein-coupled receptors (GPCRs), such as GPR34, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM, Apr 2006] X X X p11.4 45690450 45698755 + 41548221 41556530 + 41688968 41697277 + 1580863;6480464 10036181;10395919;10982042;12477932;14702039;15489334;16303743;16338117;16341674;22343749;22966169;23383108;23836308;24602016;8889549 2857 Q5VT14;Q9UPC5 AA130392;ABBA01046632;ABBA01046633;AF039686;AF118670;AK027780;AK074627;AK075217;AK122945;AL627402;AMYH02039218;AW292321;AX877698;BC020678;BM798913;CH471141;DQ106398;DQ106399;DQ106400;DQ106401;DQ106402;H03136;JF810887;N40174;NG_016754;NM_001097579;NM_005300;XM_005272597 AAD17248;AAD50531;AAH20678;AAZ99227;AAZ99228;AAZ99229;AAZ99230;AAZ99231;ABM84024;ABM87369;AEP43754;BAB55362;BAG51978;BAG52087;BAG53811;CAE89840;EAW59396;EAW59397;NP_001091048;NP_005291;Q9UPC5;XP_005272654 Hs.495989 1667537;1671790;1702962;1787294;1797626;1855503 DXS1392;GPR34_2219;RH17463;RH78452;SHGC-146100;SHGC-35951 LYPSR1 OTTHUMP00000023148;OTTHUMP00000023149;probable G-protein coupled receptor 34 APPROVED protein-coding ENSG00000171659 HGNC:4490 02213 300241 VALIDATED 1344931 GPR34P G protein-coupled receptor 34 pseudogene 2858 HGNC:4491 1319732 GPR35 G protein-coupled receptor 35 ENCODES a protein that exhibits G-protein coupled receptor activity; INVOLVED IN G-protein coupled receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane; INTERACTS WITH 1,4-dihydroxy-2-naphthoic acid; 5-fluorouracil; benzo[a]pyrene 2 2 2 q37.3 235241148 235243022 + 241544825 241570676 + 240605408 240631259 + 1580863;6480464;8554872 11017071;12477932;14965362;15489334;16341674;16344560;16754668;17940199;18271057;20361937;20599711;20919992;21297633;22820167;22821403;23128233;24347166;24699281;9479505;947955 2859 A8K2J1;B2RA17;Q9HC97 ABBA01048875;ABBA01048876;ABBA01048877;AC124862;AF027957;AF089087;AK131540;AK172786;AK290256;AK314002;AMYH02006099;AW000832;AY275467;BC095500;BC117453;BC117455;BM857130;CH471063;CR541765;DB011311;NM_001195381;NM_001195382;NM_005301 AAC52028;AAG17965;AAH95500;AAI17454;AAI17456;AAP32299;AAX88945;BAD18676;BAF82945;BAG36714;CAG46564;EAW71209;EAW71210;NP_001182310;NP_001182311;NP_005292;Q9HC97 Hs.112218 5015810;5015881;5492905 GDB:182516;GDB:335751;UniSTS:483202 G-protein coupled receptor 35;KYNA receptor;OTTHUMP00000164507;OTTHUMP00000201393;OTTHUMP00000201394;OTTHUMP00000201395;kynurenic acid receptor protein-coding HGNC:4492 16003 602646 VALIDATED 1347063 GPR36 G protein-coupled receptor 36 2860 HGNC:4493 735262 GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like) This gene is a member of the G protein-coupled receptor family. The encoded protein contains seven transmembrane domains and is found in cell and endoplasmic reticulum membranes. G protein-coupled receptors are involved in translating outside signals into G protein mediated intracellular effects. This gene product interacts with Parkin and is involved in juvenile Parkinson disease. [provided by RefSeq, Oct 2012] 7 7 7 q31 119191362 119210932 - 124385655 124406079 - 124745601 124766025 - 1580863;6480464;6907045 11439185;12150907;12477932;12670421;12690205;12853948;14532270;14579121;15489334;15572843;16539653;17059562;18344614;18691389;19218498;19799451;20237496;20424473;21139048;21372109;23251443;23690594;23738518;23864651;24250222;24290813;24561123;24749734;9144577;9339362;9526070 2861 O15354 ABBA01057712;ABBA01057713;AC004925;AF017262;AF502281;AMYH02016689;BC040007;CH236947;CH471070;DB475687;DB495592;DB517451;NM_005302;Y12476 AAB70008;AAD08853;AAH40007;AAM18625;ADZ15638;CAA73080;EAL24325;EAW83613;NP_005293;O15354 Hs.406094;Hs.731392 1673755;1676270;2162949;5022683 D7S532E;GPR37;HSC24E072;RH93211 EDNRBL;ETBR-LP-1;hET(B)R-LP G-protein coupled receptor 37;OTTHUMP00000211681;PAELR;Parkin-associated endothelin receptor-like receptor;endothelin B receptor-like protein 1;endothelin receptor type B-like;probable G-protein coupled receptor 37;prosaposin receptor GPR37 protein-coding HGNC:4494 03992 602583 REVIEWED 1606828 GPR37L1 G protein-coupled receptor 37 like 1 ENCODES a protein that exhibits G-protein coupled peptide receptor activity; peptide binding; INVOLVED IN adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway; positive regulation of MAPK cascade; negative regulation of hydrogen peroxide-induced cell death (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN receptor complex; INTERACTS WITH calcitriol; testosterone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q32.1 175215891 175222492 + 202092029 202098634 + 202122901 202129506 + 6480464;8554872 12477932;15489334;20237496;20360844;23690594;8125298;9539149 9283 O60883 ABBA01027510;AJ310210;AK222639;AK295576;AK313044;AL592300;AMYH02002491;BC050334;NM_004767;Y16280 AAH50334;BAD96359;BAG35876;BAG58475;CAA76153;NP_004758;O60883 Hs.132049 1700158;2108121;5106033 GPR37L1_8922;RH103692;SHGC-146622 ET(B)R-LP-2;ETBR-LP-2 G-protein coupled receptor 37 like 1;G-protein coupled receptor 37-like 1;OTTHUMP00000034103;endothelin B receptor-like protein 2;endothelin type b receptor-like protein 2;prosaposin receptor GPR37L1 protein-coding HGNC:14923 13603 VALIDATED 1315539 GPR39 G protein-coupled receptor 39 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); metal ion binding (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; calcitriol 2 2 2 q21-q22 126889417 127119426 + 133174147 133404169 + 132416574 132646596 + 1580863;6480464;8554872 12477932;14702039;15383539;15489334;15815621;16344560;16959833;17054911;17488974;17885920;18180304;18588883;18815158;19920139;20379614;20424473;20522546;21352519;21900206;22545109;22879599;23485550;24264723;8889548;9441746 2863 O43194;Q53RU7 ABBA01028213;ABBA01028214;AC079773;AC098800;AC104405;AF034633;AI459805;AK122643;AK314895;AMYH02004815;BC125046;BC125047;BK005609;BM981455;CH471058;CS323625;DA596795;DA636860;DA653793;EU076432;FB667670;FJ348258;NM_001508 AAC26082;AAI25047;AAI25048;AAX93106;AAY24154;ABU53902;ACI96302;BAG37409;BAG53636;CAK96158;CAS92673;DAA06055;EAX11678;EAX11679;EAX11680;NP_001499;O43194 Hs.432395;Hs.744392 1298184;1342382;1671300;1690372;1704878;1866840;2107373;2125126;2177155;7187058 D2S112;D2S1415;D2S2219;MGC29643__7700;REN4084;RH44409;RH65413;RH80444;SHGC-79913 MGC149541 G-protein coupled receptor 39;OTTHUMP00000162457 protein-coding ENSG00000183840 HGNC:4496 04198 602886 VALIDATED 1323148 GPR4 G protein-coupled receptor 4 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH benzo[a]pyrene; cadmium atom; cobalt dichloride 19 19 19 q13.3 42899136 42911570 - 46093022 46105466 - 45589764 45602208 - 1580863;6480464 12477932;12805023;12955148;14567679;15221007;15489334;15857892;16344560;16461426;16754659;17364894;17437524;17462861;18029348;20211729;22110680;7498459;7832990;8595909 2828 P46093 ABBA01040935;AC011480;AK290698;AMYH02036205;BC038450;BC067535;BC067536;BE669939;CH471126;DA858082;EU432116;L36148;NM_005282;U21051 AAA63180;AAA98457;AAH67535;AAH67536;ABY87915;BAF83387;EAW57368;NP_005273;P46093 Hs.17170 1775853;2127332;5016781 RH70611;SGC35535;SHGC-67307 G-protein coupled receptor 19;G-protein coupled receptor 4 protein-coding ENSG00000177464 HGNC:4497 02773 600551 VALIDATED 1352673 GPR42 G protein-coupled receptor 42 (gene/pseudogene) ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane (inferred) 19 19 19 q13.1 32575706 32576746 + 35862262 35863302 + 35371360 35372400 + 1580863;8554872 12477932;12496283;15057824;15684720;19460454;19630535;9344866 2866 O15529 AC002511;AF024689;AMYH02035983;NG_008348 AAB67885;AAB86712;AAI56086;AAI56954;O15529 1797630 GPR42_2019 FFAR1L;FFAR3L;GPR41L;GPR42P APPROVED pseudo HGNC:4500 16033 603822 INFERRED 1314767 GPR45 G protein-coupled receptor 45 This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function in the central nervous system. [provided by RefSeq, Jul 2008] 2 2 2 q11.1-q12 100058695 100060419 + 105839595 105860085 + 105241743 105243467 + 6480464;8554872 10036181;11027574;11027575;12477932;15489334;15815621;17474147 11250 B5B0C1;O43898;Q9Y5Y3 ABBA01073863;AC012360;AF118266;AMYH02004469;BC066879;BC066880;BC067455;CH471127;EU883573;NM_007227;U92642 AAB93884;AAD21056;AAH66879;AAH66880;AAH67455;AAY15009;ACG60647;EAX01766;NP_009158;Q9Y5Y3 Hs.590903 1797632;5492629;5492661 GPR45_2561;UniSTS:481842;UniSTS:481936 PSP24;PSP24(ALPHA);PSP24A OTTHUMP00000161372;PSP24-1;PSP24-alpha;high-affinity lysophosphatidic acid receptor;probable G-protein coupled receptor 45 APPROVED protein-coding HGNC:4503 05325 604838 REVIEWED 1346636 GPR50 G protein-coupled receptor 50 This gene product belongs to the G-protein coupled receptor 1 family. Even though this protein shares similarity with the melatonin receptors, it does not bind melatonin, however, it inhibits melatonin receptor 1A function through heterodimerization. Polymorphic variants of this gene have been associated with bipolar affective disorder in women. [provided by RefSeq, Jan 2010] X X X q28 150593370 150598251 + 150345056 150349937 + 151176584 151181465 + 1580863;6480464;8554872 12477932;12767050;15342556;15452587;16436372;16778767;18075476;18400093;19699797;20050988;20210849;20351714;20371266;20377855;20424473;20657642;20733416;20737950;21565467;8647286;9933574 9248 Q13585 ABBA01037201;AF003625;AMYH02040776;AY114101;AY114102;BC103696;BC105683;BC105684;BP245442;CH471169;EU432118;NG_016405;NM_004224;U52219;XM_005274772 AAC50614;AAI03697;AAI05684;AAI05685;AAM78368;AAM78369;ABY87917;EAW99402;NP_004215;Q13585;XP_005274829 Hs.567390 1683801;2217382 GPR50_2870;RH71238 H9;MGC125342;Mel1c OTTHUMP00000025869;melatonin-related receptor APPROVED protein-coding ENSG00000102195 HGNC:4506 02194 300207 REVIEWED 1353875 GPR52 G protein-coupled receptor 52 Members of the G protein-coupled receptor (GPR) family play important roles in signal transduction from the external environment to the inside of the cell.[supplied by OMIM, Jul 2002] 1 1 1 q24 147526602 147528073 + 174417212 174418683 + 174448074 174449545 + 1580863;6480464;8554872 12477932;15489334;16344560;16710414;21044950;23333304;9931487 9293 F2YGU0;Q9Y2T5 ABBA01027879;AF096784;AL022171;AMYH02002168;BC067456;BC067457;BC067458;BC067459;BC067460;BC069460;BC095532;CH471067;DA174341;DB168074;HQ995526;NM_005684 AAD22409;AAH67456;AAH67457;AAH67458;AAH67459;AAH67460;AAH69460;AAH95532;ADZ31971;EAW90976;NP_005675;Q9Y2T5 Hs.673850 2151215;5492409 SHGC-75884;UniSTS:480957 MGC111751 OTTHUMP00000032861;probable G-protein coupled receptor 52 APPROVED protein-coding HGNC:4508 07247 604106 VALIDATED 1343401 GPR53P G protein-coupled receptor 53, pseudogene 6 6 6 p21 31111334 31112591 - 29505589 29506428 - 29537812 29538651 - 9931487 9292 ABBA01038032;AF096785;AL662826;AL662860;AMYH02013412;BX000688;BX247947;BX927223;CR759768;CR759770;CR788300;CR942274;NG_001217 PsiGPR53;dJ271M21.8 pseudo HGNC:4509 INFERRED 1348516 GPR55 G protein-coupled receptor 55 This gene belongs to the G-protein-coupled receptor superfamily. The encoded integral membrane protein is a likely cannabinoid receptor. It may be involved in several physiological and pathological processes by activating a variety of signal transduction pathways. [provided by RefSeq, Aug 2013] 2 2 2 q37 225548449 225566348 - 231772043 231789953 - 230907328 230925238 - 6480464;8554872 12477932;15489334;16318877;16434153;16611220;17676365;17704825;17704827;17765871;17767170;17876300;17876302;17906678;18240029;18263732;18445684;18577758;18757503;18845565;19285259;19286662;19306092;19335651;19589225;19647110;19723626;19805329;19913121;20051382;20117132;20136841;20166924;20298715;20346144;20359546;20370712;20506567;20549374;20590578;20628086;20649562;20649563;20735417;20818416;20838378;21057532;21072666;21079038;21104381;21220919;21233197;21324983;21367464;21447538;21464819;21467997;21534610;21537344;21557736;21601562;21603896;21718301;21907912;21964594;22027819;22179809;22285325;22433274;22454039;22589443;22674489;22751111;22820167;22831390;22990678;23063456;23108553;23151004;23161546;23220281;23333304;23603203;23639801;24274581;24602016;9931487 9290 A8K858;C9J1P7;Q9Y2T6 ABBA01050108;AC012507;AF096786;AK292223;AMYH02005960;BC032694;CH471063;CR541776;FJ348259;NM_005683;XM_005246952 AAD22410;AAH32694;ABM81807;ABM84961;ACI96303;BAF84912;CAG46575;EAW70939;EAW70940;NP_005674;Q9Y2T6;XP_005247009 Hs.114545 1658346;2162255 L17684;SGC38350 LPIR1 G-protein coupled receptor 55;OTTHUMP00000164296;OTTHUMP00000204443;OTTHUMP00000204444 APPROVED protein-coding ENSG00000135898 HGNC:4511 07248 604107 VALIDATED 1352005 GPR56 G protein-coupled receptor 56 This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 16 16 16 q13 42155129 42200163 + 57653442 57698944 + 57619530 57665032 + 708336;6480464;7240710;8554872;8699517 10049584 10100861;11845408;12477932;12975309;15004227;15044805;15340161;15489334;15674329;15916848;16303743;16344560;16757564;17192395;17314516;17932623;18042463;19016831;19525879;19572147;20008459;20301504;20424473;20874003;21349848;21708946;21723461;21724588;21724806;21987572;22238662;23274687;23478665;23902976;24102982;24531968;24561123 9289 B3KQN7;B3KQV4;B4DM06;H3BM73;H3BMC2;H3BMF8;H3BMY9;H3BNH4;H3BNN3;H3BP67;H3BP94;H3BPA6;H3BPC0;H3BQ11;H3BQ46;H3BQJ9;H3BQW4;H3BQZ1;H3BRA1;H3BRB4;H3BRH0;H3BRI2;H3BRI7;H3BRZ4;H3BS14;H3BS54;H3BS94;H3BS98;H3BSB8;H3BSF7;H3BSJ6;H3BSN3;H3BSN7;H3BSP5;H3BSR1;H3BT88;H3BTD2;H3BTH7;H3BTK9;H3BTS5;H3BUF5;H3BUH2;H3BUI6;H3BUU6;H3BV52;H3BV72;H3BV84;H3BVA0;H3BVD3;H3BVE9;Q9Y653 AB065909;ABBA01025277;AC018552;AF106858;AJ011001;AK074399;AK075270;AK075555;AK131550;AK297236;AK299110;AK311156;AK312405;AL137591;AMYH02032111;AX646713;AY358400;BC008770;BC013207;BE893273;BT007311;CH471092;CR936747;DA153038;DA225816;DA245676;DA386131;DB231209;DB567419;DC369393;EU432119;NG_011643;NM_001145770;NM_001145771;NM_001145772;NM_001145773;NM_001145774;NM_001290142;NM_001290143;NM_001290144;NM_005682;NM_201524;NM_201525;XM_005256237;XM_005256238;XM_005256239;XM_005256240;XM_005256241;XM_005256242;XM_005256243;XM_005256244;XM_005256245;XM_005256246;XM_005256247;XM_005256248;XM_005256249;XM_005256251;XM_005256252;XM_005256253;XM_005256254;XM_005256255;XM_006721338;XM_006721339;XM_006721340;XM_006721341;XM_006721342;XM_006721343;XM_006721344;XM_006721345;XM_006721346;XM_006721347 AAD30545;AAH08770;AAP35975;AAQ88766;ABY87918;BAC06124;BAD18684;BAG52099;BAG52166;BAG59718;BAG61166;CAB37294;CAD70079;EAW82939;EAW82940;EAW82941;EAW82942;EAW82943;EAW82944;EAW82945;NP_001139242;NP_001139243;NP_001139244;NP_001139245;NP_001139246;NP_001277071;NP_001277072;NP_001277073;NP_005673;NP_958932;NP_958933;Q9Y653;XP_005256294;XP_005256295;XP_005256296;XP_005256297;XP_005256298;XP_005256299;XP_005256300;XP_005256301;XP_005256302;XP_005256303;XP_005256304;XP_005256305;XP_005256306;XP_005256308;XP_005256309;XP_005256310;XP_005256311;XP_005256312;XP_006721401;XP_006721402;XP_006721403;XP_006721404;XP_006721405;XP_006721406;XP_006721407;XP_006721408;XP_006721409;XP_006721410 Hs.513633 1339194;1797640;2130351;7186523 D16S514;GPR56_2066;SHGC-61153 BFPP;BPPR;DKFZp781L1398;TM7LN4;TM7XN1 7-transmembrane protein with no EGF-like N-terminal domains-1;EGF-TM7-like;G-protein coupled receptor 56 APPROVED protein-coding ENSG00000205336 HGNC:4512 06824 604110;606854;615752 REVIEWED 737528 GPR6 G protein-coupled receptor 6 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of plasma membrane (inferred); INTERACTS WITH zinc atom; zinc(0); (S)-nicotine (ortholog) 6 6 6 q21 111046984 111048609 + 110299459 110301923 + 109978256 109980720 + 632853;1580863;6480464 8530049 12477932;12649592;14574404;15489334;16344560;20677014;22487033;7832990 2830 F1DAM6;P46095 ABBA01026121;AK294648;AK295250;AL591076;AMYH02014283;BC043414;BC117298;BC126301;CF147782;CH471051;DA205492;DA260869;HQ709190;HQ709191;L36150;NM_001286099;NM_005284;U18549 AAA63181;AAA91631;AAH43414;AAI17299;AAI26302;ADR82964;ADR82970;ADZ17397;ADZ17398;BAG57824;BAG58241;EAW48331;NP_001273028;NP_005275;P46095 Hs.46332 1667103;2130744;2132261;2152534;2189535;5493401 D6S2092;Gpr6;RH46833;RH70579;STS-U18549;UniSTS:486089 G-protein coupled receptor 6;OTTHUMP00000016981;sphingosine 1-phosphate receptor GPR6 protein-coding ENSG00000146360 HGNC:4515 02775 600553 VALIDATED 1320923 GPR61 G protein-coupled receptor 61 This gene belongs to the G-protein coupled receptor 1 family. G protein-coupled receptors contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. The protein encoded by this gene is most closely related to biogenic amine receptors. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108351793 108357754 + 110082494 110088487 + 109539872 109545865 + 1580863;6480464;8554872 11165367;11690637;12044878;12477932;15489334;15615699;16344560;16710414;19025769;19834535;21832049;23362303 83873 G4XH66;Q9BZJ8 AB083585;ABBA01068380;AF258342;AF317652;AK290027;AL355145;AL355310;AMYH02001711;AX342691;AX375426;AX376583;AX378806;BC067464;BC095507;BX491451;CH471122;DA176879;JF810889;NG_032758;NM_031936;XM_006710940 AAH67464;AAK12637;AAK97826;AEP43756;BAB89298;BAF82716;CAD20718;CAD26774;CAD26821;CAD28185;EAW56392;NP_114142;Q9BZJ8;XP_006711003 Hs.709782 2108123 GPR61_8109 BALGR;GPCR3 OTTHUMP00000229951;biogenic amine receptor-like G-protein coupled receptor;biogenic amine receptor-like GPCR;probable G-protein coupled receptor 61 APPROVED protein-coding ENSG00000156097 HGNC:13300 06077 606916 REVIEWED 1351718 GPR62 G protein-coupled receptor 62 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN receptor complex; INTERACTS WITH potassium dichromate (ortholog); valproic acid (ortholog) 3 3 3 p21.1 51968157 51970347 + 51989330 51991520 + 51955314 51957504 + 1580863;6480464;8554872 11165367;12044878;12477932 118442 Q8TAM0;Q9BZJ7 AB032600;AB083590;ABBA01024518;AC115284;AF317653;AI951672;AMYH02006794;BC026357;CH471055;NM_080865 AAH26357;AAK12638;BAB89303;BAD83591;EAW65164;NP_543141;Q9BZJ7 Hs.232213 1661928;1797642 GPR62_2049;STS-W84536 GPCR8;KPG_005;MGC26943;hGPCR8 G-protein coupled receptor GPCR8;G-protein coupled receptor KPG_005;OTTHUMP00000212046;probable G-protein coupled receptor 62 APPROVED protein-coding ENSG00000180929 HGNC:13301 06078 606917 VALIDATED 1315091 GPR63 G protein-coupled receptor 63 This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 6 6 6 q16.1-q16.3 97887934 97927394 - 97241998 97285353 - 96794122 96837477 - 1580863;6480464;8554872 11027574;11027575;11165367;12477932;12618218;14574404;15489334;16344560;16751776;17474147;20467438 81491 A8K1C4;Q9BZJ6 AB030566;AB209347;ABBA01014523;ABBA01014524;AF317654;AI208851;AK289839;AK313535;AL033379;AL159985;AMYH02014162;AX081250;BC067465;BC067466;BC067467;BC067468;BC067469;CH471051;DA242987;DB119067;DQ586203;FJ348260;JB028789;NM_001143957;NM_030784;XM_006715569;XM_006715570 AAH67465;AAH67466;AAH67467;AAH67468;AAH67469;AAK12639;ACI96304;BAB20031;BAD92584;BAF82528;BAG36312;CAC33119;CCV20024;EAW48502;NP_001137429;NP_110411;Q9BZJ6;XP_006715632;XP_006715633 Hs.221364 1678877;1797644;5492459 GPR63_2265;RH76687;UniSTS:481126 PSP24(beta);PSP24B OTTHUMP00000016881;PSP24-2;PSP24-beta;brain expressed G-protein-coupled receptor PSP24 beta;probable G-protein coupled receptor 63 APPROVED protein-coding ENSG00000112218 HGNC:13302 06076 606915 VALIDATED 735317 GPR64 G protein-coupled receptor 64 This gene encodes a member of the G protein-coupled receptor family described as an epididymis-specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] X X X p22.13 23127421 23261162 - 19007425 19140755 - 18989307 19122924 - 6480464 11973329;12420295;12477932;17081983;18029348;19199708;19581412;21963094;9150425;9739419 10149 A8K4P7;C9JWS0;Q499H0;Q8IZP9 ABBA01071718;ABBA01071719;ABBA01071720;ABBA01071721;ABBA01071722;ABBA01071723;ABBA01071724;ABBA01071725;ABBA01071726;ABBA01071727;ABBA01071728;ABBA01071729;ABBA01071730;ABBA01071731;ABBA01071732;ABBA01071733;ABBA01071734;AF538954;AF539455;AF539456;AK090402;AK291012;AK309439;AL732509;AL732578;AMYH02038956;AMYH02038957;AMYH02038958;AY143364;AY143365;AY143366;AY143367;AY148343;BC063315;BC099901;BC113978;BC113979;CH471074;CS223389;NG_021304;NM_001079858;NM_001079859;NM_001079860;NM_001184833;NM_001184834;NM_001184835;NM_001184836;NM_001184837;NM_005756;X81892;XM_006724449;XM_006724450;XM_006724451;XM_006724452;XM_006724453;XM_006724454;XM_006724455;XM_006724456 AAH99901;AAI13979;AAI13980;AAN33056;AAN33064;AAN33065;AAN38971;AAN38972;AAN38973;AAN38974;AAN75702;BAC03383;BAF83701;CAA57479;CAJ46934;EAW98952;EAW98953;EAW98954;EAW98955;EAW98956;EAW98957;NP_001073327;NP_001073328;NP_001073329;NP_001171762;NP_001171763;NP_001171764;NP_001171765;NP_001171766;NP_005747;Q8IZP9;XP_006724512;XP_006724513;XP_006724514;XP_006724515;XP_006724516;XP_006724517;XP_006724518;XP_006724519 Hs.146978 1787344;1791219;1791223;2127163;2144844;2150152;5014051;5022651;5037552;5095064 491N21_SP6;497J19_SP6;D11S2921;D8S2278;D8S2279;DXS7161;GPR64;RH48517;SHGC-155103;SHGC-57689 EDDM6;FLJ00282;HE6;MGC104454;MGC138738;MGC138739;TM7LN2 G protein-coupled receptor, epididymis-specific (seven transmembrane family);G-protein coupled receptor 64;OTTHUMP00000023008;OTTHUMP00000023009;OTTHUMP00000023010;OTTHUMP00000023011;OTTHUMP00000023012;OTTHUMP00000215232;OTTHUMP00000215233;epididymal protein 6;human epididymis-specific protein 6 APPROVED protein-coding ENSG00000173698 HGNC:4516 04040 300572 REVIEWED 1323495 GPR65 G protein-coupled receptor 65 ENCODES a protein that exhibits G-protein coupled receptor activity; INVOLVED IN actin cytoskeleton reorganization; activation of Rho GTPase activity; G-protein coupled receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; INTERACTS WITH 3,3',4,4'-tetrachlorobiphenyl; carmustine; cobalt dichloride 14 14 14 q31-q32.1 68517156 68526848 + 88471468 88481155 + 88005124 88014811 + 6480464;8554872 11309421;12477932;12508121;15221007;15326175;15489334;15618224;15665078;16754659;19234222;20855608;21102463;21833088;22445881;22685289;23128233;23707809;24152439;9655242 8477 B5B0C2;Q8IYL9 ABBA01030534;AK313797;AL157955;AMYH02029693;BC035633;BC071715;CH471061;EU883574;JA738805;NM_003608;U95218 AAC31794;AAH35633;AAH71715;ABM81760;ABM84915;ACG60648;BAG36533;CCF77055;EAW81365;NP_003599;Q8IYL9 Hs.443243 1662213;1729427;5037552 D14S34;D8S2279;SHGC-56573 TDAG8;hTDAG8 G-protein coupled receptor 65;OTTHUMP00000218026;T-cell death-associated gene 8 protein;psychosine receptor protein-coding ENSG00000140030 HGNC:4517 07057 604620 VALIDATED 1319965 GPR68 G protein-coupled receptor 68 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN cellular response to pH (inferred); G-protein coupled receptor signaling pathway (inferred); inflammatory response (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4',5-pentachlorobiphenyl; benzo[a]pyrene 14 14 14 q31 71747337 71768677 - 91698876 91730898 - 91232532 91264554 - 1580863;6480464;8554872 12069813;12477932;12955148;14567679;15146197;15489334;15665078;16087674;16754659;17207965;17728215;18302504;20237496;20622109;21740742;21907704;22508039;22835475;23222714;7498459;8661159;8889548 8111 A1A5B2;E9PNU7;Q15743 ABBA01030481;ABBA01030482;AL135818;AMYH02029739;AY615372;BC067470;BC067471;BC067472;BC069592;BC096071;BC096072;BC096073;BC096074;BC098567;BC128536;BM723705;CH471061;CN287036;EU883575;KF455985;NM_001177676;NM_003485;U35398;U48405;XM_005268110;XM_005268111;XM_005268112;XM_006720262;XM_006720263 AAA79060;AAC50596;AAH67470;AAH67471;AAH67472;AAH69592;AAH96071;AAH96072;AAH96073;AAH96074;AAH98567;AAI28537;AAT38917;ACG60649;ADQ31978;EAW81447;EAW81448;NP_001171147;NP_003476;Q15743;XP_005268167;XP_005268168;XP_005268169;XP_006720325;XP_006720326 Hs.8882 1669450;1797646;2132938;2132940;5094719;5492637;5492825 A005M17;G20331;GPR68_2195;Gpr68;UniSTS:481855;UniSTS:482899;WI-20177 GPR12A;MGC111379;MGC156983;OGR1 G-protein coupled receptor 68;OTTHUMP00000236281;OTTHUMP00000236282;ovarian cancer G protein-coupled receptor, 1;ovarian cancer G-protein coupled receptor 1;sphingosylphosphorylcholine receptor protein-coding ENSG00000119714 HGNC:4519 03241 601404 VALIDATED 1343209 GPR75 G protein-coupled receptor 75 GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand.[supplied by OMIM, Jul 2002] 2 2 2 p16 53920904 53927988 - 54080050 54087170 - 53852913 53860033 - 1580863;6480464;8554872 10381362;12477932;15489334;15815621 10936 O95800 ABBA01075242;ABBA01075243;AC008068;AF072693;AF101472;AK314885;AMYH02003838;BC067475;BC067476;CH471053;NM_006794 AAD19849;AAD22770;AAH67475;AAH67476;AAY15018;BAG37399;EAX00162;NP_006785;O95800 Hs.40763 1797654;2115569;2134157 GPR75_2050;SHGC-31133;WIAF-2144 GPRchr2;MGC132002;WI31133 OTTHUMP00000159608;probable G-protein coupled receptor 75 APPROVED protein-coding ENSG00000119737 HGNC:4526 09462 606704 VALIDATED 5132026 GPR75-ASB3 GPR75-ASB3 readthrough This locus represents naturally occurring read-through transcription between the neighboring GPR75 (G protein-coupled receptor 75) and ASB3 (ankyrin repeat and SOCS box containing 3) on chromosome 2. The transcript includes exons from both GPR75 and ASB3 and translation initiates in the 5' non-coding exon of GPR75. The resulting protein has a novel N-terminus but is otherwise identical to that encoded by ASB3.[provided by RefSeq, Feb 2011] 2 2 2 p16 53738284 53928032 - 53897430 54087170 - 53670293 53860033 - 6480464;8554872 12477932;15342556;16344560;20967262 100302652 H7BYZ6;Q9Y575 ABBA01075236;ABBA01075237;ABBA01075238;ABBA01075239;ABBA01075240;ABBA01075241;ABBA01075242;ABBA01075243;AC007883;AC008064;AC008068;AC009241;AC009490;AC010967;AC016714;AC069157;AMYH02003835;AMYH02003836;AMYH02003837;AMYH02003838;BC110915;DC314536;NM_001164165 AAI10916;NP_001157637 Hs.40763 1652430;1666020;1673255;1683860;1715515;1797654;1847441;1850234;2115569;2130966;2131081;2134157;2158436;2168157;2173021;2190555 A002T41;A006Z48;D2S2570;EST26H8;G17801;G27383;G31468;GPR75_2050;RH120980;RH69613;RH92206;SHGC-12264;SHGC-31133;SHGC-37399;WI-15186;WIAF-2144 MGC132002 OTTHUMP00000200613 APPROVED protein-coding ENSG00000270898 HGNC:40043 VALIDATED 1351563 GPR78 G protein-coupled receptor 78 The protein encoded by this gene belongs to the G protein-coupled receptor family, which contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. This is an orphan receptor, which displays significant level of constitutive activity. Association analysis shows preliminary evidence for the involvement of this gene in susceptibility to bipolar affective disorder and schizophrenia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011] 4 4 4 p16.1 8475095 8482325 + 8581964 8591750 + 8580237 8590023 + 6480464 11574155;12477932;12975309;15489334;16389273;17363172;19328558;21660448;21832049 27201 B2R7M4;D6RB95;Q96P69 AB065673;ABBA01008701;AC105345;AF411107;AK128807;AK307281;AK308759;AK313038;AMYH02008699;AY359107;BC057778;BC069343;BC069813;BE645298;CH471131;JF810885;NM_080819;NR_045511 AAH57778;AAH69343;AAH69813;AAL26479;AAQ89465;AEP43752;BAC05898;BAG35871;BAG54739;EAW82336;NP_543009;Q96P69 Hs.740355 1685626;2113616;2113618;2113620;2113622;2113624;2113626;2113628;2113630 SHGC-67332;stGPR26L.2b;stGPR26L.4;stGPR26L.5;stGPR26Lex1a;stGPR26Lex2;stGPR26Lex3;stGpr26l.3b;stGpr78ex1b.3 FLJ98800 G-protein coupled receptor 78;OTTHUMP00000217514 APPROVED protein-coding HGNC:4528 06081 606921 REVIEWED 1350376 GPR79 G protein-coupled receptor 79, pseudogene 3 3 3 q25.32 156981616 156982633 - 158558856 158559873 - 158841067 158842084 - 11574155;19146662 27200 ABBA01058812;AC092999;AF411108;AMYH02008001;NG_001272 GPR79P APPROVED pseudo HGNC:4529 INFERRED 1354119 GPR82 G protein-coupled receptor 82 The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011] X X X p11.4 45725632 45731612 + 41583408 41589388 + 41724155 41730135 + 1580863 11574155;12044878;12477932;15489334;19377476 27197 Q96P67 AB065935;AB083595;ABBA01046624;ABBA01046625;AF411111;AJ319076;AK122626;AK313702;AL627402;AL832460;AMYH02039218;AMYH02039219;BC070180;CH471141;JQ308170;NG_016566;NG_016754;NM_080817 AAH70180;AAL26482;AFF59480;BAB89308;BAC06150;BAG36448;BAG53628;CAC87490;EAW59395;NP_543007;Q96P67 Hs.567457 1731369;1797658;5020948;5022200;5022450;5022578;5037552;7184802 D10S275;D18S21;D1S1423;D8S2279;G35510;GPR82_2567;L18426 OTTHUMP00000023147;probable G-protein coupled receptor 82 APPROVED protein-coding ENSG00000171657 HGNC:4533 06084 300748 VALIDATED 1352259 GPR83 G protein-coupled receptor 83 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); neuropeptide Y receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); neuropeptide signaling pathway (inferred); response to glucocorticoid (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH cytarabine; fonofos; hydralazine 11 11 11 q21 91398304 91422417 - 94110477 94134585 - 94377311 94401419 - 1580863;6480464;8554872 10760605;10819331;11060465;12477932;16344560;16785516;17207965;20200545;22566498 10888 F5GZ43;Q9NYM4 AB040973;ABBA01040031;AF236081;AI914177;AK315161;AMYH02025373;AP000765;BC067473;BC067474;BE670361;CH471065;DA317535;EU432120;NM_016540;Y19228 AAF43705;AAH67473;AAH67474;ABY87919;ADQ32055;BAA96064;BAG37605;CAC19039;EAW66929;NP_057624;Q9NYM4 Hs.272385 1674715;1721579;1733298;2110437;5022578;5037552 D11S1926;D1S1423;D8S2279;G59799;GPR83_7278;WIAF-1564 GIR;GPR72 G protein-coupled receptor 72;G-protein coupled receptor 72;OTTHUMP00000236828;OTTHUMP00000236829;glucocorticoid induced receptor;probable G-protein coupled receptor 83 protein-coding ENSG00000123901 HGNC:4523 16125 605569 VALIDATED 1323208 GPR84 G protein-coupled receptor 84 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN receptor complex; INTERACTS WITH (-)-demecolcine; vincristine; 4,4'-diaminodiphenylmethane (ortholog) 12 12 12 q13.13 54408078 54410119 - 54756229 54758270 - 54362445 54364486 - 1331358;1580863;6480464 11273702 11404393;12044878;12477932;15342556;15489334;19460454;23449982 53831 Q9NQS5 AB083586;ABBA01008371;AC078778;AF237762;AF282693;AK290394;AMYH02026535;BC020614;BP303386;CD366881;CH471054;FJ348261;NM_020370 AAF91467;AAH20614;AAK01857;ABM84143;ABM87545;ACI96305;BAB89299;BAF83083;EAW96776;NP_065103;Q9NQS5 Hs.306199 1795942 GPR84_337 EX33;GPCR4 G-protein coupled receptor 84;OTTHUMP00000242245;inflammation-related G protein-coupled receptor EX33;inflammation-related G-protein coupled receptor EX33 protein-coding ENSG00000139572 HGNC:4535 16213 606383 VALIDATED 736296 GPR85 G protein-coupled receptor 85 Members of the G protein-coupled receptor (GPCR) family, such as GPR85, have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli, such as neurotransmitters, hormones, or light, induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins (Matsumoto et al., 2000 [PubMed 10833454]).[supplied by OMIM, Aug 2008] 7 7 7 q31 107533050 107540415 - 112720468 112727833 - 113080413 113087778 - 70648;6480464 10833454 10978537;11076863;11230166;11256614;12408996;12477932;12853948;15489336;15893849;16344560;16381901;18413613;18951430;22968816;9847074 54329 A4D0T8;C9JBQ9;C9JDK8;P60893;Q8NEN2 AB040800;AB065688;ABBA01057837;AC073346;AF250237;AK297464;AK302769;AK309392;AK312587;AL161959;AMYH02016591;AX128505;AX134204;AX646693;BC030577;CH236947;CH471070;CS382014;DA151528;DA483702;DA596250;DA768938;DC305161;FB764506;JF810886;NM_001146265;NM_001146266;NM_001146267;NM_018970;XM_005250451 AAF79956;AAH30577;AAQ93365;AEP43753;BAA96646;BAC05911;BAG35481;BAG59886;BAG63977;CAB82307;CAC38937;CAC39507;CAD69473;CAL38405;CAL38430;CAL39131;CAV30661;EAL24372;EAW83476;NP_001139737;NP_001139738;NP_001139739;NP_061843;P60893;XP_005250508 Hs.152009 FLJ50993;FLJ51159;FLJ99433;SREB;SREB2 OTTHUMP00000211043;OTTHUMP00000211044;OTTHUMP00000211045;OTTHUMP00000211046;OTTHUMP00000211047;probable G-protein coupled receptor 85;seven transmembrane helix receptor;super conserved receptor expressed in brain 2 APPROVED protein-coding ENSG00000164604 HGNC:4536 05543 605188 VALIDATED 1317287 GPR87 G protein-coupled receptor 87 This gene encodes a G protein-coupled receptor and is located in a cluster of G protein-couple receptor genes on chromosome 3. The encoded protein has been shown to be overexpressed in lung squamous cell carcinoma (PMID:18057535) and regulated by p53 (PMID:19602589). [provided by RefSeq, Nov 2011] 3 3 3 q24 149424590 149447354 - 151011874 151034636 - 151294086 151316848 - 1331358;6480464;8554872 11273702 11574155;12477932;14702039;15342556;15489334;17905198;18057535;18183596;19602589;23593389 53836 Q9BY21 AB031548;ABBA01058910;AC024886;AC078816;AF086432;AF237763;AF345566;AF411114;AK027784;AMYH02007900;BC009540;BC112941;BC117565;BC132888;BC132890;BP226924;CH471052;CQ859808;EU883576;NG_021244;NM_023915 AAH09540;AAI12942;AAI17566;AAI32889;AAI32891;AAK01858;AAK29069;AAL26485;ACG60650;ADR82963;BAB55366;BAD83583;CAH25954;EAW78808;NP_076404;Q9BY21 Hs.591292 1338430;1340218;1729397;1759119;1851324;7186207 D3S1279;D3S1594;G54363;SHGC-13689;SHGC-151126 FKSG78;GPR95;KPG_002;MGC131898 G protein-coupled receptor 95;G-protein coupled receptor 87;G-protein coupled receptor 95;OTTHUMP00000216777;orphan GPCR 87 APPROVED protein-coding ENSG00000138271 HGNC:4538 16209 606379 VALIDATED 735493 GPR88 G protein-coupled receptor 88 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN locomotory behavior (inferred); neuromuscular process controlling balance (inferred); neuronal action potential (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 1 1 1 p21.3 99264881 99268736 + 101003728 101007583 + 100538172 100542027 + 1580863;6480464 11056049;12477932;8125298 54112 Q9GZN0 AB042410;AB042411;ABBA01045438;ABBA01045439;AC099670;AF086060;AK225748;AMYH02001560;AY336999;BC036775;CH471097;NM_022049 AAH36775;AAI72248;AAQ76787;BAB18247;BAB18248;EAW72954;NP_071332;Q9GZN0 Hs.170053 1700340;1797660 GPR88_2022;RH103790 STRG G protein coupled receptor 88;G-protein coupled receptor 88;OTTHUMP00000012649;probable G-protein coupled receptor 88;striatum-specific G-protein coupled receptor protein-coding ENSG00000181656 HGNC:4539 16248 607468 VALIDATED 1642209 GPR89A G protein-coupled receptor 89A GPR89A is a nearly identical copy of the GPR89B gene (MIM 612806).[supplied by OMIM, Jun 2009] 1 1 q21.1 145764595 145827103 - 145607960 145670740 + 6480464 10810093;11042152;12477932;12761501;12975309;14702039;15489334;16710414;18794847;19135895;21906983;21963094;24722188;8125298 653519 B7ZAQ6;E9PKY3;E9PRZ5;P0CG08;X5D7G6 AB097024;AB097025;ABBA01005738;ABBA01027330;AC239860;AC242845;AF132947;AK001354;AK021758;AK094228;AK223223;AK297145;AK299995;AK301939;AK316371;AL390725;AX881564;AY358966;BC003187;BC067816;BC146880;BT006679;BX511042;CR628408;DC349534;KJ535029;KJ535070;NM_001097612;NM_001097613;NR_036541;XM_006711492;XM_006711493;XM_006711494 AAD27722;AAH03187;AAH67816;AAI46881;AAP35325;AAQ89325;ABM84756;AHW56668;AHW56709;B7ZAQ6;BAC77377;BAC77378;BAD96943;BAG51045;BAG59645;BAG61815;BAG63359;BAH14742;CAE91312;CAI13224;CAI13712;CAM28366;NP_001091081;NP_001091082;XP_006711555;XP_006711556;XP_006711557 Hs.504320;Hs.559115 1701668;2140331;2177393;5091808;5115163 AL009955;RH104506;RH35978;SHGC-75406;WI-15443 FLJ10492;FLJ11696;FLJ36909;FLJ79270;GPHR;GPR89;GPR89B;MGC688;MGC87324;SH120;UNQ192 Golgi pH regulator A;OTTHUMP00000015575;OTTHUMP00000234808;OTTHUMP00000234809;putative MAPK-activating protein PM01;putative NF-kappa-B-activating protein 90 APPROVED protein-coding ENSG00000117262 HGNC:31984 612821 VALIDATED 1348396 GPR89B G protein-coupled receptor 89B ENCODES a protein that exhibits signal transducer activity; voltage-gated anion channel activity; INVOLVED IN intracellular pH reduction; positive regulation of I-kappaB kinase/NF-kappaB signaling; regulation of anion transport; FOUND IN Golgi cisterna membrane; Golgi-associated vesicle membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); benzo[a]pyrene (ortholog) 1 1 q21.1 147400506 147465753 + 147928393 147993521 + 1580863;6480464 10810093;11042152;12477932;12761501;12975309;14702039;15489334;16710414;18794847;21906983;21963094;24722188;8125298 51463 B7ZAQ6;P0CG08;U3KPV2;X5D7G6 ABBA01147204;AC239801;AF151035;AK302266;AL133020;AL445591;BX537254;CD102528;DC305701;KJ534847;KJ534848;KJ534849;KJ534850;KJ534851;KJ535049;NM_016334;U78723;XM_005277401;XM_005277402;XM_005277404;XM_006711377;XM_006711378;XM_006711379;XR_248599 A6NKF9;AAF21463;AAF36121;AAI56844;ABM81576;AHW56487;AHW56488;AHW56489;AHW56490;AHW56491;AHW56688;BAG63613;CAH56393;CAH72386;CAI18821;NP_057418;P0CG08;XP_005277458;XP_005277459;XP_005277461;XP_006711440;XP_006711441;XP_006711442 Hs.559115;Hs.645432 1701668;2140331;5091808;5115163 AL009955;RH104506;SHGC-75406;WI-15443 FLJ55546;GPHR;GPR89;GPR89C;SH120;UNQ192 G protein-coupled receptor 89C;Golgi pH regulator A;Golgi pH regulator B;OTTHUMP00000015424;g protein-coupled receptor 89;putative Golgi pH regulator C;putative MAPK-activating protein PM01;putative NF-kappa-B-activating protein 90;putative protein GPR89C protein-coding ENSG00000188092 HGNC:13840 13604 612806 VALIDATED 1625469 GPR89C G protein-coupled receptor 89C FOUND IN integral component of membrane (inferred) 1 q21.1 145883858 145924049 + 6480464 16710414;21906983;21963094 728932 A6NKF9 AL356004;CD102528;NM_001097616;XM_005272974;XM_005272975 A6NKF9;CAI17085;NP_001091085;XP_005273031;XP_005273032 Hs.559115 5091808;5115163 SHGC-75406;WI-15443 OTTHUMP00000015580;Putative protein GPR89C;putative Golgi pH regulator C protein-coding ENSG00000196644 HGNC:31985 VALIDATED 1346240 GPR89P G protein-coupled receptor 89 pseudogene 6 6 6 p21 29310368 29312307 - 27704354 27706293 - 27736575 27738514 - 394254 ABBA01038009;AL009179;AMYH02013388;NG_000934 C11H1.2-Lp;SH120P pseudo HGNC:13951 INFERRED 1344521 GPR90 G protein-coupled receptor 90 56669 HGNC:4541 1313843 GPR97 G protein-coupled receptor 97 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN neuropeptide signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH paracetamol; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 q21 42203376 42231241 + 57702099 57723290 + 57668187 57689378 + 1580863;6480464 12435584;12477932;12679517;14702039;15203201;15340161;15489334;20424473;222487;24178298 222487 F8W8F7;H3BRU4;H3BS78;Q86Y34 AB049169;ABBA01025277;ABBA01025278;AC018552;AK172801;AK301258;AK310124;AK310311;AMYH02032111;AY140959;AY255601;BC044222;BC064508;BE672513;CH471092;NM_170776;XM_005255842;XM_006721170;XR_243399 AAH64508;AAN46673;AAO85113;BAC67700;BAD18774;BAG62824;EAW82946;NP_740746;Q86Y34;XP_005255899;XP_006721233 Hs.383403 1797662;2191111 GPR97_2039;MARC_14789-14790:1010672522:1 PB99;PGR26 EGF-TM7-like;G-protein coupled receptor PGR26;OTTHUMP00000164662;probable G-protein coupled receptor 97 protein-coding ENSG00000182885 HGNC:13728 17073 VALIDATED 1318161 GPR98 G protein-coupled receptor 98 This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008] 5 5 5 q13 85756769 86361875 + 89854617 90460254 + 90558800 91164216 + 1580863;6480464;7240710;8547669;8554872;8699517 20624897 10234513;10587582;10745043;10976914;11230166;11545713;11606593;11853319;12168954;12217514;12402266;12477932;14702039;14740321;15203201;15203218;15671307;16344560;16434480;17903296;18463160;18854872;19056867;19357117;19683999;19730683;19913121;20195266;20200978;20301515;20379614;20628086;20801516;22147658;22419726;23251661;23441107;24618850;7901420;9734811 84059 D6RIF0;H0Y8U6;H0Y9Q4;Q8WXG9 AB014586;AB075823;ABBA01062155;ABBA01062156;ABBA01062157;ABBA01062158;ABBA01062159;ABBA01062160;ABBA01062161;ABBA01062162;AC027323;AC034215;AC074132;AC093281;AC093529;AC094109;AC099512;AF055084;AF435925;AK024416;AL133041;AL136541;AMYH02011774;AMYH02011775;AMYH02011776;AMYH02011777;AMYH02011778;AMYH02011779;AMYH02011780;BC034748;BI758469;BX493741;CD633594;CH471084;DA503892;KC877034;KF457937;KF457938;KF457939;NG_007083;NM_032119;NR_003149 AAD55586;AAL30811;BAA31661;BAB85529;BAG51297;CAB61369;CAB66476;EAW95986;EAW95987;EAW95988;EAW95989;EAW95990;EAW95991;EAW95992;EAW95993;EAW95994;NP_115495;Q8WXG9 Hs.591777 1299951;1335243;1335576;1336929;1337197;1341063;1342348;1703466;1711070;1724097;1724889;1747649;1751395;1780108;1848155;2107323;2156032;2181670;5119152;5491806;7183687;7184262;7185107;7186435 D3S1578;D3S3647;D3S3658;D5S1463;D5S1832E;D5S1898;D5S428;D5S433;D5S484;G17003;G65490;GPR98;L28341;MASS1__7378;RH118790;RH119209;SHGC-105215;SHGC-154422;SHGC-82576;SHGC-86171 DKFZp761P0710;FEB4;KIAA0686;MASS1;USH2B;USH2C;VLGR1;VLGR1b G-protein coupled receptor 98;OTTHUMP00000222494;monogenic audiogenic seizure susceptibility protein 1 homolog;monogenic, audiogenic seizure susceptibility 1 homolog;monogenic, audiogenic seizure susceptibility 1 homolog (mouse);usher syndrome type-2C protein;very large G protein-coupled receptor 1;very large G-protein coupled receptor 1 APPROVED protein-coding ENSG00000164199 HGNC:17416 09111 602851;604352;605472 REVIEWED 1349786 GPRASP1 G protein-coupled receptor associated sorting protein 1 This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010] X X X q22.1 102344925 102352642 + 101906294 101914011 + 102651366 102659083 + 6480464;8554872 11274227;11597585;12142540;12477932;15086532;15342556;15452121;15489334;15772651;16049099;16169070;16221301;16344560;16969126;17197383;19237393;19615732;20394773;20468064;21030592;21078624;21718301;21791203;21890473;21900845;22483848;23082996;24778252;9455477 9737 Q5JY77 AB007903;ABBA01020959;ABBA01020960;AL035427;AMYH02040161;AW293629;AY044233;BC114552;BP193624;BX489726;BX954816;CH471190;DA094297;DA104338;DA222893;NG_021332;NM_001099410;NM_001099411;NM_001184727;NM_014710 AAI14553;AAK95578;BAA23715;EAW54730;NP_001092880;NP_001092881;NP_001171656;NP_055525;Q5JY77 Hs.729265;Hs.731996 GASP;GASP-1;GASP1;KIAA0443 G-protein coupled receptor-associated sorting protein 1;OTTHUMP00000023717 APPROVED protein-coding ENSG00000198932 HGNC:24834 02333 300417 REVIEWED 1346303 GPRASP2 G protein-coupled receptor associated sorting protein 2 The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] X X X q22.1 102406295 102412645 + 101967104 101972661 + 102712176 102717733 + 737633;1580863;6480464 12477932 11076863;14702039;15086532;15383276;15489334;15489336;15772651;16221301;16344560;16381901;16835690;17043677;19615732;20479760;21145461;21890473;21900206;21988832;24722188;24778252;25036637 114928 B3KW05;Q96D09 AA906216;ABBA01020964;AK092981;AK094646;AK096067;AK123832;AL035427;AL522674;AL832187;AMYH02040161;BC013576;BC036772;BC051707;BG719561;BX509838;CH471190;DA231935;DA238794;DA333852;DA389655;DA776293;NG_021322;NM_001004051;NM_001184874;NM_001184875;NM_001184876;NM_138437 AAH13576;AAH36772;BAG53967;CAL38493;EAW54727;EAW54728;EAW54729;NP_001004051;NP_001171803;NP_001171804;NP_001171805;NP_612446;Q96D09 Hs.522729;Hs.731996 1659996;1787252 RH78520;SHGC-143390 FLJ35662;FLJ37327;GASP2 G-protein coupled receptor-associated sorting protein 2;OTTHUMP00000023714 APPROVED protein-coding ENSG00000158301 HGNC:25169 06612 REVIEWED 1603705 GPRC5A G protein-coupled receptor, class C, group 5, member A This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008] 12 12 12 p13-p12.3 18192808 18215452 + 13043956 13066600 + 12891022 12913666 + 6480464 10783259;10945465;12477932;14702039;14706456;15489334;15659406;15951569;16565220;17055459;18000218;18029348;18781797;19056867;19279407;19552806;20360068;20563252;21139048;21890473;21906983;21963094;21987572;22939629;23000965;23154545;23632812;24470238;8832110;9857033 9052 F5GWG3;H0YFN2;Q8NFJ5 ABBA01067856;ABBA01067857;AC007688;AF095448;AF506289;AI587426;AK001761;AK122672;AK172760;AK291171;AMYH02026067;BC003665;CH471094;NM_003979 AAC98506;AAH03665;AAM77594;BAA91890;BAF83860;BAG53657;EAW96289;NP_003970;Q8NFJ5 Hs.631733 1680473;2182370 D12S2123;RH99002 GPCR5A;RAI3;RAIG-1;RAIG1 G protein-coupled receptor, family C, group 5, member A;G-protein coupled receptor family C group 5 member A;OTTHUMP00000239229;orphan G-protein-coupling receptor PEIG-1;retinoic acid induced 3;retinoic acid responsive;retinoic acid-induced gene 1 protein;retinoic acid-induced protein 3 APPROVED protein-coding HGNC:9836 16037 604138 REVIEWED 1319887 GPRC5B G protein-coupled receptor, class C, group 5, member B The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. [provided by RefSeq, Jul 2008] 16 16 16 p12 19019238 19045130 - 19870293 19897049 - 19858970 19886045 - 6480464;8554872 10493829;10783259;10945465;12477932;14702039;15489334;16303743;16502470;18029348;19056867;20424473;20935630;21890473;21988832;23251661;23563607;24404583;24561123 51704 B7Z2G0;B7Z440;B7Z831;H3BN33;H3BQV9;H3BSJ1;H3BT47;H3BT93;Q9NZH0 ABBA01028269;AC004131;AC134300;AF181862;AF202640;AJ276101;AK075119;AK294680;AK295204;AK296754;AK302838;AK315989;AL137684;AMYH02031652;BC034467;CH471186;NM_016235;XM_005255357;XM_006721051;XM_006721052 AAC27544;AAF05331;AAF67321;AAH34467;ABM81777;ABM84932;BAC11414;BAH11846;BAH12012;BAH12426;BAH13817;BAH14360;CAC00632;EAW50302;EAW50303;EAW50304;EAW50305;NP_057319;Q9NZH0;XP_005255414;XP_006721114;XP_006721115 Hs.148685 1677590;1679041;1736600;1739747;2135808;2138820;2165532 A002I06;D16S2597E;D16S3003E;RH64900;RH64917;RH78263;SHGC-30161 RAIG-2;RAIG2 A-69G12.1;G protein-coupled receptor, family C, group 1, member B;G protein-coupled receptor, family C, group 5, member B;G-protein coupled receptor family C group 5 member B;OTTHUMP00000162164;retinoic acid responsive gene protein;retinoic acid-induced gene 2 protein APPROVED protein-coding ENSG00000167191 HGNC:13308 16177 605948 REVIEWED 1352441 GPRC6A G protein-coupled receptor, class C, group 6, member A Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010] 6 6 6 q22.1 117856343 117893293 - 117113248 117150256 - 116792085 116829057 - 6480464;8554872 11329013;12044878;14574404;15194188;15576628;16199532;16754659;17478059;19874200;20654748;20676098;21300955;21681779;22662242;23269670;23271661;23728177;24651445 222545 Q5T6X5 AB065680;AB083615;ABBA01026045;AF502962;AL354716;AMYH02014356;AW771483;AY435125;AY435126;AY435127;BG191110;CH471051;DY319308;JA739949;JA762083;NM_001286354;NM_001286355;NM_148963 AAI41420;AAM22230;AAS13465;AAS13466;AAS13467;BAB89328;BAC05904;CCF77881;CCF82064;EAW48214;NP_001273283;NP_001273284;NP_683766;Q5T6X5 Hs.266745 2107181 GPRC6A__7544 GPCR;bA86F4.3 G protein-coupled receptor, family C, group 6, member A;G-protein coupled receptor GPCR33;G-protein coupled receptor family C group 6 member A;OTTHUMP00000017075;OTTHUMP00000229704;OTTHUMP00000229705;hGPCR33;hGPRC6A;predicted with SOSUI analysis;seven transmembrane helix receptor APPROVED protein-coding ENSG00000173612 HGNC:18510 17074 613572 VALIDATED 1606183 GPRIN1 G protein regulated inducer of neurite outgrowth 1 ENCODES a protein that exhibits phosphoprotein binding (inferred); INVOLVED IN neuron projection development (inferred); FOUND IN cell projection (inferred); plasma membrane (inferred); INTERACTS WITH 2-methylcholine; tunicamycin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 5 5 5 q35.2 172463735 172478055 + 176022803 176044339 - 176595802 176617357 - 6480464 10480904;11572484;12477932;15302935;15488195;15489334;24250222 114787 Q7Z2K8 AB067480;ABBA01033486;ABBA01033487;ABBA01033488;ABBA01033489;AC091934;AL834165;AMYH02012816;BC052950;CH471195;KF458059;NM_052899;XM_005265806 AAH52950;BAB67786;CAD38868;EAW85065;NP_443131;Q7Z2K8;XP_005265863 Hs.150549 1776086;2168097;2185877 RH35970;RH77998;SGC33786 GRIN1;KIAA1893 G protein-regulated inducer of neurite outgrowth 1;OTTHUMP00000161241 protein-coding ENSG00000169258 HGNC:24835 11169 611239 VALIDATED 1318969 GPRIN2 G protein regulated inducer of neurite outgrowth 2 INTERACTS WITH 17beta-estradiol; bisphenol A; elemental selenium 10 10 10 q11.22 4526 5489 - 46993003 47005654 + 46548462 46556614 - 6480464 10480904;12477932;15164054;15488195;15489334;15778465;16189514;23088713;9628581 9721 O60269 AB011086;ABBA01163966;AC245163;AL356056;AL645529;BC011672;NM_014696;XM_005270329;XM_005277666 AAH11672;BAA25440;NP_055511;O60269;XP_005270386;XP_005277723 Hs.523375 5022450 D10S275 GRIN2;KIAA0514;MGC15171 G protein-regulated inducer of neurite outgrowth 2;OTTHUMP00000019519 protein-coding HGNC:23730 13804 611240 VALIDATED 1604710 GPRIN3 GPRIN family member 3 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; hydrogen peroxide 4 4 4 q22.1 87461582 87525350 - 90162427 90229161 - 89241276 89308010 - 6480464;8554872 12477932;14702039;15488195;22833210 285513 A0AVI5;Q6ZVF9 AB095947;ABBA01063565;AC093862;AC105388;AK091461;AK124616;AMYH02009706;BC126371;CH471057;NM_198281;XM_005262936;XM_005262937 AAI26372;ADR83257;BAC23123;BAC85902;EAX06032;EAX06033;NP_938022;Q6ZVF9;XP_005262993;XP_005262994 Hs.605082 1725005 RH118798 FLJ42625;GRIN3 G protein-regulated inducer of neurite outgrowth 3;OTTHUMP00000219635 protein-coding HGNC:27733 14159 611241 VALIDATED 1344418 GPRC5D G protein-coupled receptor, class C, group 5, member D The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 12 12 12 p13.3 18242561 18252157 - 13093407 13106828 - 12940473 12953894 - 1580863;6480464;8554872 11311935;12044878;12477932;15489334;20424473;22591013;23510526 55507 F5GWX9;Q9NZD1 AB083629;AB099817;ABBA01067857;AC007688;AF209923;AMYH02026067;BC069341;BC107077;BC107078;CH471094;NM_018654;XM_005253421 AAF72873;AAH69341;AAI07078;AAI07079;BAB89342;BAC79169;EAW96294;NP_061124;Q9NZD1;XP_005253478 Hs.644599 2157197 STS-H01056 MGC129713;MGC129714 G protein-coupled receptor, family C, group 5, member D;G-protein coupled receptor family C group 5 member D;OTTHUMP00000239232;orphan G-protein coupled receptor APPROVED protein-coding ENSG00000111291 HGNC:13310 07604 607437 REVIEWED 7895375 GPS2P2 G protein pathway suppressor 2 pseudogene 2 3 3 3 q27.3 184926546 184927409 + 186490384 186491247 + 186772595 186773458 + 100132058 ABBA01058381;AC112907;AMYH02008350;NG_022285 pseudo HGNC:49623 INFERRED 1351498 GPSM2 G-protein signaling modulator 2 The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82).[provided by RefSeq, Jan 2011] 1 1 1 p13.3 107689180 107742602 + 109417972 109473044 + 108876218 108930422 + 631949;1580863;6480464;7240710;8554872;8699517 11832491 11781568;12477932;12748287;12925752;15489334;15537540;15632202;16458856;17289029;18029348;19596686;19888295;20056645;20301607;20479129;20508983;20589935;20602914;20933426;21348867;21897333;21906983;21963094;22074847;22578326;22690686;22977735;22987632;23389635;23494849;23907121;24165937;24250222;24469800;8973305 29899 B0QZC9;B0QZD0;H0Y4A4;P81274;Q5T1N9 AB445462;ABBA01068356;ABBA01068357;AI224972;AK295563;AK314249;AL449266;AMYH02001701;AMYH02001702;AY136740;BC027732;CH471122;CR456786;DC341689;NG_028108;NM_013296;U54999;XM_005270787;XM_006710588;XM_006710589 AAB40385;AAH27732;AAN01266;ABM82955;ABM85856;BAG36915;BAG58463;BAH84760;CAG33067;EAW56340;EAW56341;EAW56342;EAW56343;EAW56344;NP_037428;P81274;XP_005270844;XP_006710651;XP_006710652 Hs.584901;Hs.658489 1681470;1683910;1774998;2109367;2177687;5014003;5015869;5015961;5024516;5109281 D13S1568;D15S1477;D17S1136;D1S1425;GDB:313261;GPSM2_9599;RH71239;RH98217;SHGC-37685;SHGC-75299 CMCS;DFNB82;LGN;Pins G-protein signaling modulator 2 (AGS3-like, C. elegans);G-protein signalling modulator 2 (AGS3-like, C. elegans);G-protein-signaling modulator 2;OTTHUMP00000013436;deafness, autosomal recessive 82;mosaic protein LGN APPROVED protein-coding ENSG00000121957 HGNC:29501 06609 604213;609245 REVIEWED 7945285 GPS2P1 G protein pathway suppressor 2 pseudogene 1 9 9 9 p24.2 2793641 2794757 - 2875387 2876503 - 2875387 2876503 - 392281 ABBA01065436;AL589675;AMYH02019055;NG_021604 pseudo HGNC:49622 INFERRED 1348855 GPSM1 G-protein signaling modulator 1 G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 9 9 9 q34.3 109736118 109768993 + 139221932 139254057 + 136327476 136359605 + 1304224;1580863;6480464 10969064 11024022;11278352;11832491;12477932;12642577;12826607;12925752;14530282;14684460;14994339;15489334;15537540;16189514;16458856;17991770;18029348;18566450;20065032;20126274;20237496;20305814;20488951;20700046;20716524;21145461;21209316;21890473;21906983;23718855;23945395;24307516;24510965 26086 Q86YR5 ABBA01022705;AC174065;AL117478;AL545250;AL592301;AMYH02021900;AY173053;BC009943;BC009979;BC017257;BC017353;BC048343;BI766024;BQ214873;BU631041;BX649589;CH471090;NG_028088;NM_001145638;NM_001145639;NM_001200003;NM_015597 AAH09979;AAH17353;AAH48343;AAO17260;CAB55951;EAW88216;EAW88217;EAW88218;NP_001139110;NP_001139111;NP_001186932;NP_056412;Q86YR5 Hs.239370 1787024 SHGC-149982 AGS3;DKFZp727I051 1810037C22Rik;AGS3 homolog;G-protein signaling modulator 1 (AGS3-like, C. elegans);G-protein signalling modulator 1 (AGS3-like, C. elegans);G-protein-signaling modulator 1;OTTHUMP00000022584;OTTHUMP00000022585;OTTHUMP00000022586;OTTHUMP00000161525;activator of G-protein signaling 3 APPROVED protein-coding ENSG00000160360 HGNC:17858 17075 609491 REVIEWED 1343729 GPSM3 G-protein signaling modulator 3 ENCODES a protein that exhibits GDP-dissociation inhibitor activity (inferred); INVOLVED IN regulation of catalytic activity (inferred); regulation of G-protein coupled receptor protein signaling pathway (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; diazinon 6 6 6 p21.3 33725587 33730344 - 32158543 32163300 - 32190766 32195523 - 1580863;6480464 12202484;12477932;14574404;14656218;14667819;15096500;15489334;16344560;17207965;19659809;19851445;19913121;20452976;20628086;22167191;2259622;22843681;23042114;23251661;23535732;24250222 63940 E9PIE9;E9PIP3;Q9Y4H4 ABBA01038108;AF155657;AJ243937;AJ243938;AK313922;AL662830;AL662884;AL845464;AMYH02013469;BC018724;BX284686;BX927239;CH471081;CR812478;CR933878;DA979033;NM_001276501;NM_022107;U89335;U89336 AAB47489;AAC63096;AAF67476;AAH18724;ADQ32457;BAG36643;CAB51287;CAB51288;CAB51289;EAX03617;EAX03620;EAX03623;NP_001263430;NP_071390;Q9Y4H4 Hs.520046 1672022;1778456;1792292;2115023 PMC140667P2;RH46756;WI-12121;WI-14626 AGS4;C6orf9;G18;G18.1a;G18.1b;G18.2;NG1 G-protein signaling modulator 3 (AGS3-like, C. elegans);G-protein signalling modulator 3 (AGS3-like, C. elegans);G-protein-signaling modulator 3;OTTHUMP00000029351;activator of G-protein signaling 4 APPROVED protein-coding ENSG00000213654 HGNC:13945 13605 VALIDATED 732073 GPS1 G protein pathway suppressor 1 This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 76604358 76609594 + 80009746 80015346 + 82051870 82057470 + 1580863;6480464;8554872 10903862;11114242;11285227;11337588;12220626;12324474;12477932;12615944;12628923;12732143;14702039;15304329;15489334;16036220;16045761;16169070;16260596;16624822;16916636;16949367;16964243;17079684;17276034;17337451;17353931;18606781;18850735;19141280;19295130;19444310;19615732;20360068;20399188;21139048;21145461;21169563;21604193;21890473;21903422;21906983;21963094;22053931;22103747;22190034;22268729;22414063;22505724;22767593;22863883;22939629;23000965;23022380;23275442;23408908;23658844;23818606;23926101;24421388;24654937;25043011;8125298;8943324;9535219;9707402 2873 C9JFE4;J3KRE8;J3KRJ4;J3KRY5;J3KSA5;J3KSY1;J3KTB0;J3QL53;J3QLE8;J3QLT0;J3QQP2;J3QQX0;J3QS84;J3QS88;Q13098 AB209596;ABBA01019661;AC135056;AK026610;AK093283;AK222508;AK225248;AK289435;AK297872;AMYH02034148;BC000155;BC064503;BG775520;BT009834;CH471099;NM_004127;NM_212492;U20285;XM_005256350;XM_005256351;XM_005256352;XM_005256353;XM_005256354;XM_005256355;XM_005256356;XM_005256357;XM_005256358;XM_005256359;XM_005256360;XM_005256362;XM_005256363 AAC50906;AAH00155;AAH64503;AAP88836;ACE86882;ACE87569;ADR83311;BAC04120;BAD92833;BAF82124;BAG60198;EAW89741;EAW89742;NP_004118;NP_997657;Q13098;XP_005256407;XP_005256408;XP_005256409;XP_005256410;XP_005256411;XP_005256412;XP_005256413;XP_005256414;XP_005256415;XP_005256416;XP_005256417;XP_005256419;XP_005256420 Hs.268530 1680543;5024541 D1S3688;RH98836 COPS1;CSN1;GPS-1;MGC71287;SGN1 COP9 signalosome complex subunit 1;COP9 signalosome subunit 1;JAB1-containing signalosome subunit 1;signalosome subunit 1 APPROVED protein-coding ENSG00000169727 HGNC:4549 15991 601934 REVIEWED 1322855 GPRC5C G protein-coupled receptor, class C, group 5, member C The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25 69020312 69036199 + 72427480 72447797 + 74431341 74451658 + 1580863;6480464 10783259;10945465;11311935;12477932;14667819;14702039;15489334;16303743;19056867;19190083;21906983;21963094;8125298 55890 A8MXZ4;J3KRS9;J3KSD6;J3KTP8;J3QQN3;J9JIE0;Q9BSP0;Q9NQ84 AB451470;ABBA01028838;ABBA01028839;AC079325;AF207989;AJ276102;AK000249;AK075397;AK126429;AK131210;AK222909;AMYH02033976;BC004925;BC016860;BC069202;BC110848;BC125080;BC125081;BT007435;CH471099;CS051199;NM_018653;NM_022036;XM_005257512;XM_005257513;XM_005257514 AAF72870;AAH04925;AAH16860;AAI10849;AAI25081;AAI25082;AAP36103;ABM82557;ABM85747;BAA91030;BAC11595;BAG54752;BAG70284;CAC00633;CAI72095;EAW89160;EAW89161;EAW89162;EAW89163;EAW89164;NP_061123;NP_071319;Q9NQ84;XP_005257569;XP_005257570;XP_005257571 Hs.446438 1853437;2134829;2191591 D14S1335;MARC_26756-26757:1034172943:1;RH12385 MGC131820;RAIG-3;RAIG3 G protein-coupled receptor, family C, group 5, member C;G-protein coupled receptor family C group 5 member C;OTTHUMP00000070880;OTTHUMP00000070881;orphan G-protein coupled receptor;retinoic acid responsive gene protein;retinoic acid-induced gene 3 protein APPROVED protein-coding HGNC:13309 16178 605949 REVIEWED 737005 GPX1 glutathione peroxidase 1 This gene encodes a member of the glutathione peroxidase family. Glutathione peroxidase functions in the detoxification of hydrogen peroxide, and is one of the most important antioxidant enzymes in humans. This protein is one of only a few proteins known in higher vertebrates to contain selenocysteine, which occurs at the active site of glutathione peroxidase and is coded by UGA, that normally functions as a translation termination codon. In addition, this protein is characterized in a polyalanine sequence polymorphism in the N-terminal region, which includes three alleles with five, six or seven alanine (ALA) repeats in this sequence. The allele with five ALA repeats is significantly associated with breast cancer risk. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 49359484 49360663 - 49394609 49395791 - 49357176 49358358 - 1600704;1600708;1600662;1600671;1600677;1625122;1580863;1300048;1302578;2306609;2306608;2306610;2306611;2306161;2306607;2306624;2306606;2306616;2306612;6480464;6907045;7240570;7240710;7240571;8699517;8547520 12429206;12655278;12824952;14573732;15039483;15331559;15791111;16338763;16844917;17198913;17420349;17609286;17693525;17825092;18387670;18758054;18940188;19229592;22046528;5766310 10220143;10652368;10833429;10880344;11103801;11112379;11368344;11823528;12221075;12447480;12470500;12477932;12496980;12531513;12732844;12751788;12787913;12810669;12829378;12832449;12893824;12893830;14671197;14744747;14962293;14962975;15125229;15149466;15167446;15192016;15203190;15247771;15295091;15298967;15318035;15489334;1556108;15774926;15829318;15878749;15910762;15946795;15990458;16132718;16230136;16287877;16354666;16413612;16424062;16523188;16538174;16543247;16614101;16615267;16627788;16797832;16868544;16871233;16945136;16956821;16979635;17052796;17097614;17149600;17171548;17275003;17334644;17336361;17526193;17548672;17601350;17625244;17634480;17850515;18186040;18267129;18298806;18417962;18449862;18469277;18483336;18541150;18541588;18563616;18600213;18676680;18806750;18853169;18977241;19012493;19026164;19035188;19056482;19124506;19125369;19161995;19170196;19195504;19195803;19228881;19254950;19285650;19347979;19415410;19423521;19424819;19428376;19428448;19488773;19505917;19527700;19560448;19573080;19578796;19625176;19692168;19705749;19733578;19773279;19819955;19826042;19896490;19913121;19929244;19944066;19946932;19949914;19951064;20041472;20082261;20097730;20109103;20178852;20200426;20219985;20301895;20303587;20306294;20307617;20378690;20441054;20444272;20471990;20477822;20480816;20530237;20578157;20628086;20643115;20644561;20724907;20727719;20802378;20813000;20851292;20852007;20877264;20877624;20878976;21045266;21048031;21052528;21053180;21055077;21087145;21102463;21165435;21185702;21292323;21434422;21586620;21636625;21842217;21852236;21900206;21904836;21921984;21936966;21989715;21993316;22036626;22072582;22167619;22180033;22259188;22448134;22556393;22561328;22645453;22677746;22683538;22699881;22704671;22790458;22843889;22863883;22888637;22890915;22951908;22952184;22964634;23010849;23063346;23073788;2307470;23128233;23152058;23212700;23261989;23289525;23518201;23590304;23721877;23725507;23748877;23765060;23781296;23837478;23975365;24037914;24039907;24054539;24058403;24323765;24563517;24597264;24719327;24722188;2955287;2976939;3658677;3697069;8001233;8125298;8428933;9126277;9501919;9605859 2876 P07203;Q7L4Q3 ABBA01024594;AC121247;AK130160;AK225835;AMYH02006750;AY327818;BC000742;BC007865;BC070258;CH471055;KJ534852;KJ534853;M21304;M83094;NG_012264;NM_000581;NM_201397;X13709;X13710;Y00433;Y00483 AAA67540;AAA75389;AAH00742;AAH07865;AAH70258;AAP80181;AHW56492;AHW56493;CAA31992;CAA31993;CAA68491;CAB37833;EAW64976;EAW64977;NP_000572;NP_958799;P07203 Hs.76686 1657441;1683595;1722513;1730133;1741423;1741439;1768363;2173897;5014611;5110985;5111345 A004T30;D21S1961;D3S1330E;G34714;G60181;GDB:181197;GDB:181211;RH45222;RH91501;SHGC-76946;WI-18922 GPXD;GPx-1;GSHPX1;GSHPx-1;MGC14399;MGC88245 OTTHUMP00000210765;OTTHUMP00000210766;cellular glutathione peroxidase APPROVED protein-coding ENSG00000233276 HGNC:4553 11749 138320;614164 REVIEWED 1317604 GPS2 G protein pathway suppressor 2 This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and interfere with JNK activity, suggesting that the function of this gene may be signal repression. The encoded protein is an integral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator protein 1) function. [provided by RefSeq, Jul 2008] 17 17 17 p13 7241919 7244599 - 7215978 7218658 - 7312659 7315339 - 1302232;1580863;6480464 8943324 10846067;11119584;11230166;11347906;11486030;11931768;12477932;12628926;14527417;14702039;15159402;15489334;16122992;16169070;16189514;16712523;17210713;17242407;17353931;17895379;18218630;19481530;19858209;19917673;20159957;21081666;21240272;21258344;21906983;22190034;22190037;23221346;23752268;24223774;24943844;9325311 2874 B4DXA1;I3L1H4;I3L242;I3L3Y9;I3L4X7;Q13227 ABBA01054860;AC026954;AK301877;AMYH02032897;BC013652;BC014192;BC103901;BC103902;BC103903;BC107738;BT006998;CR541723;CR541750;NM_004489;U28963 AAB60432;AAH13652;AAI03902;AAI03903;AAI03904;AAI07739;AAP35644;BAG63313;CAG46524;CAG46550;NP_004480;Q13227 Hs.438219 1652841;2182995 RH78284;STS-T79836 AMF-1;GPS-2;MGC104294;MGC119287;MGC119288;MGC119289 OTTHUMP00000128385;OTTHUMP00000163158 APPROVED protein-coding ENSG00000132522 HGNC:4550 11878 601935 REVIEWED 1352560 GPX1P1 glutathione peroxidase pseudogene 1 X X X p22.2 17514353 17515205 - 13396634 13397506 - 13378515 13379387 - 2883;441481 AC135371;AMYH02038892;NG_012792 1741439 GDB:181211 GPXL1;GPXL2;GPXP1 APPROVED pseudo HGNC:4560 INFERRED 1345750 GPX2 glutathione peroxidase 2 (gastrointestinal) This gene is a member of the glutathione peroxidase family and encodes a selenium-dependent glutathione peroxidase that is one of two isoenzymes responsible for the majority of the glutathione-dependent hydrogen peroxide-reducing activity in the epithelium of the gastrointestinal tract. The protein encoded by this locus contains a selenocysteine (Sec) residue encoded by the UGA codon, which normally signals translation termination. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 14 14 14 q24.1 45460457 45464116 - 65405870 65409623 - 64939152 64942905 - 1580863;6480464;6907045 10652368;10806356;11368344;11373322;11811519;12477932;12674495;12751789;15489334;15910762;15923610;16446369;16794261;17277236;17937616;18029348;18056462;18479189;18483336;18676680;19047153;19161995;19170196;19573080;19625176;19692168;19773279;19884766;19913121;20200426;20628086;20813000;21988832;22683372;22758632;2388849;23934683;8125298;8287691;8428933;8833155;9501919 2877 G3V323;G3V4J6;H0YJK8;P18283 ABBA01018373;AF199441;AK225871;AL139022;AMYH02029364;AY785560;BC005277;BC016756;BC022820;BC039850;BC046164;BC067221;BF207526;BG429974;CH471061;NM_002083;NR_046320;NR_046321;X53463;X68314;X91863 AAF74026;AAH05277;AAH16756;AAH22820;AAH67221;AAV31780;CAA48394;CAB43534;EAW80889;EAW80890;EAW80891;EAW80892;NP_002074;P18283 Hs.2704 1771188;1797664;2120353 GPX2_2113;RH48489;WI-7016 GI-GPx;GPRP;GPRP-2;GPx-2;GPx-GI;GSHPX-GI;GSHPx-2 OTTHUMP00000246692;OTTHUMP00000246693;gastrointestinal glutathione peroxidase;gastrointestinal glutathione peroxidase 2;glutathione peroxidase 2;glutathione peroxidase-gastrointestinal;glutathione peroxidase-related protein 2 APPROVED protein-coding ENSG00000176153 HGNC:4554 11818 138319 REVIEWED 1313502 GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 This gene encodes one of the two pyridoxal enzymes which catalyze a reversible transamination reaction to yield glutamate and pyruvate so these enzymes participate in amino acid metabolism and gluconeogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 16 16 16 q12.1 31426465 31473333 + 46918308 46965201 + 46884396 46931289 + 1580863;6480464;6907045;8554872 11863375;12477932;14702039;15489334;15616553;16344560;17109502;17596883;18854154;19360321;19615732;20877624;21145461;21832049;24418603 84706 H3BU54;Q8TD30 ABBA01013764;AC007225;AC018845;AI990701;AK090957;AK094971;AL833351;AMYH02031969;AY029173;BC051364;BC062555;CH471092;DA400677;NM_001142466;NM_133443 AAH62555;AAK31794;BAC04465;BAG52252;EAW82690;EAW82691;EAW82692;NP_001135938;NP_597700;Q8TD30 Hs.460693 1710294;1778597;2107183;2142633 D16S3350;GPT2__7546;SHGC-31859;SHGC-85253 ALT2;GPT 2 OTTHUMP00000163363;alanine aminotransferase 2;glutamate pyruvate transaminase 2;glutamic--alanine transaminase 2;glutamic--pyruvic transaminase 2;glutamic-pyruvate transaminase 2 APPROVED protein-coding ENSG00000166123 HGNC:18062 06307 138210 VALIDATED 736049 GPX4 glutathione peroxidase 4 This gene encodes a member of the glutathione peroxidase protein family. Glutathione peroxidase catalyzes the reduction of hydrogen peroxide, organic hydroperoxide, and lipid peroxides by reduced glutathione and functions in the protection of cells against oxidative damage. Human plasma glutathione peroxidase has been shown to be a selenium-containing enzyme and the UGA codon is translated into a selenocysteine. The encoded protein has been identified as a moonlighting protein based on its ability to serve dual functions as a peroxidase as well as a structural protein in mature spermatozoa. Through alternative splicing and transcription initiation, rat produces proteins that localize to the nucleus, mitochondrion, and cytoplasm. In humans, alternative transcription initiation and the cleavage sites of the mitochondrial and nuclear transit peptides need to be experimentally verified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 19 19 19 p13.3 1036910 1039761 + 1103936 1106787 + 1103937 1106788 + 1300048;1302561;1580863;6480464;6907045;8554872 12566075 10464096;10652368;11368344;11898409;12152199;12193409;12427732;12477932;12490284;12606444;12732844;12868489;12958179;14642406;15057824;15149466;15225122;15256721;15308634;15474074;15489334;15910762;15978628;16341674;16424062;16868544;16872467;16979635;17020817;17052796;17516241;17601350;17630701;17634480;18400727;18483336;18636124;18676680;18977241;19056867;19124506;19161995;19170196;19285650;19460752;19524426;19573080;19615732;19625176;19692168;19744930;19773279;19913121;20303587;20378690;20379614;20477822;20485444;20628086;20628624;20813000;20852007;20877624;21052528;21102463;21139048;21252226;21459128;21644221;21733339;21890473;21988832;22158110;22634395;23128233;23201771;23721877;23919599;23934705;24039907;24170573;24191733;8039723;8125298;8287691;8889548;9501919;9705830 2879 K7EJ20;K7EKX7;K7ENB4;K7ERP4;P36969;Q6PI42;R4GNE4 ABBA01002621;AC004151;AC005390;AF060972;AI274351;AK225859;AL558552;AMYH02035134;AY324108;BC010157;BC011836;BC021567;BC022071;BC032695;BC039849;BC046163;BC058329;BI561548;BM764133;BQ648717;CF127510;CH471139;HY049693;NM_001039847;NM_001039848;NM_002085;X71973 AAC03239;AAC28920;AAC32261;AAH10157;AAH11836;AAH21567;AAH22071;AAH32695;AAH39849;AAH46163;AAP72965;CAA50793;EAW69543;EAW69544;EAW69545;EAW69546;NP_001034936;NP_001034937;NP_002076;P36969 Hs.433951 2162895;2176384;5491693 MARC_7967-7968:996688192:1;RH16004;STS-X71973 GPx-4;GSHPx-4;MCSP;PHGPx;snGPx;snPHGPx phospholipid hydroperoxidase;phospholipid hydroperoxide glutathione peroxidase, mitochondrial;sperm nucleus glutathione peroxidase APPROVED protein-coding ENSG00000167468 HGNC:4556 11819 138322 REVIEWED 734191 GPT glutamic-pyruvate transaminase (alanine aminotransferase) This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009] 8 8 8 q24.3 141904937 141908027 + 145729465 145732555 + 144504082 144507172 + 1580863;1300048;6480464;6907045 11863375;12358155;12477932;12480555;12774006;14506613;15306699;15342556;15489334;16652026;17134955;17378732;17405346;17570354;17764776;17766001;17877759;17907292;17907318;17934148;18090161;18178283;18242760;18315552;18432999;18473412;18508279;18708042;18763311;18774966;19012630;19056867;19065605;19100265;19159884;19217453;19232448;19303161;1931970;19360321;19370784;19393479;19687577;19938201;20032584;20190678;20205615;20387481;20433554;20872970;20961180;20972737;21040936;21199427;21692932;21715038;21720553;21987480;21988832;22132177;22140488;22158663;22177542;22242166;22293393;22352690;22357454;22389715;22954960;22975640;23119080;23384374;23403445;23522007;23667618;23794308;23880909;24158044;24205292;24324749;24349501;3192219;49232;5581908;7114790;7114791;7361762;8125298;9119391 2875 P24298 ABBA01005200;AC084125;AI283141;AK225562;AK298488;AK303779;AMYH02019009;BC018207;BP275218;BT006992;CH471162;D10355;EF444981;HB901540;HC958949;NG_015828;NM_005309;U70732 AAC51155;AAH18207;AAP35638;ABM84690;ABM92213;ACA05996;BAA01186;BAG60697;BAG64738;CBF80470;CBU99504;EAW82077;EAW82078;EAW82079;NP_005300;P24298 Hs.103502 1337478;1681825 D11S1356;RH80745 AAT1;ALT1;GPT 1;GPT1 OTTHUMP00000228783;alanine aminotransferase 1;glutamate pyruvate transaminase 1;glutamic--alanine transaminase 1;glutamic--pyruvic transaminase 1;glutamic-alanine transaminase 1 APPROVED protein-coding ENSG00000167701 HGNC:4552 00689 138200 REVIEWED 1343113 GPX1P2 glutathione peroxidase pseudogene 2 21 21 21 q21.3 13698689 13699563 - 28515442 28516318 - 27143123 27143999 - 10830953;1487153 2884 ABBA01057226;AMYH02037667;AP001603;M93083;NG_001134 GPXL1;GPXL2;GPXP2;GPXP2P APPROVED pseudo HGNC:4561 INFERRED 1343858 GPX3 glutathione peroxidase 3 (plasma) This gene product belongs to the glutathione peroxidase family, which functions in the detoxification of hydrogen peroxide. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 5 5 5 q23 146481339 146489894 + 150399999 150408554 + 151020438 151028993 + 1580863;2312629;2312621;2312626;2312635;2307430;2312631;2312632;2312633;2312634;1625122;6480464;6907045 12753302;12824952;16049373;16489975;16651743;17269729;18562625;18936159;19212806;19426485 10652368;10970826;11149894;11368344;11934214;11983108;12477932;12553559;12674495;12732844;1339300;15096516;15375613;15489334;15910762;16229808;16937131;17122425;17804715;17937619;18096833;18483336;18676680;1897960;19020706;19161995;19170196;19199708;19375609;19573080;19625176;19692168;19766714;19773279;19913121;20043075;20200426;20303587;20485444;20576521;20628086;20712757;20725785;20730571;20813000;20946167;21684681;21933611;2229017;22461624;22508837;22981671;23071548;23132926;23436019;23837478;24186266;24279306;24819036;2491950;24926085;3619451;3693360;8056346;8262911;8287691;9501919 2878 E5RG32;E5RHK5;E5RJS2;H0YBE4;H0YC19;P22352 ABBA01026268;AC008641;AF217787;AK310242;AL036834;AMYH02012464;AY310878;BC013218;BC013601;BC025956;BC035841;BC050378;BC066949;BI522602;CH471062;D00632;D16360;D16361;D16362;NM_002084;X58295 AAF43005;AAH13601;AAH35841;AAH50378;AAH66949;AAP50261;BAA00525;BAA03862;BAA03863;BAA03864;CAA41228;EAW61692;EAW61693;NP_002075;P22352 Hs.386793 1724391;1795944;2112216;2130231;2149114;5022337 D5S2679;D5S2783;GPX3;GPX3_446;NIB1209;RH122357 GPx-3;GPx-P;GSHPx-3;GSHPx-P OTTHUMP00000224545;OTTHUMP00000224546;extracellular glutathione peroxidase;glutathione peroxidase 3;plasma glutathione peroxidase APPROVED protein-coding ENSG00000211445 HGNC:4555 11750 138321 REVIEWED 1352844 GPX5 glutathione peroxidase 5 This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike mRNAs for other characterized glutathione peroxidases, this mRNA does not contain a selenocysteine (UGA) codon. Thus, the encoded protein is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2008] 6 6 6 p22.1 30100218 30109121 + 28493789 28502728 + 28526012 28534951 + 1580863;6480464;6907045;8554872 10652368;11076863;11368344;12211066;12477932;1386734;14574404;14702039;15910762;16344560;19913121;20200426;20628086;23728617;9110319;9501919;9639555;9783843 2880 O75715;V9HWN8 ABBA01038021;AJ005277;AK093099;AL049543;AMYH02013394;AY882013;BC128159;BC128160;BX103177;CH471081;DB336279;FJ460514;NM_001509;NM_003996 AAI11376;AAI28160;AAI28161;AAW56939;ACS44651;BAG52653;CAA06463;EAX03168;EAX03169;NP_001500;NP_003987;O75715 Hs.248129 1748271;1748273 G66704;G66705 EGLP;GPx-5;GSHPx-5;HEL-S-75p OTTHUMP00000017919;OTTHUMP00000214636;epididymal androgen-related protein;epididymal secretory glutathione peroxidase;epididymis secretory sperm binding protein Li 75p;epididymis-specific glutathione peroxidase-like protein APPROVED protein-coding ENSG00000224586 HGNC:4557 11941 603435 REVIEWED 1347107 GPXP3 glutathione peroxidase pseudogene 3 394215 HGNC:13952 735998 GPX6 glutathione peroxidase 6 (olfactory) This gene product belongs to the glutathione peroxidase family, which functions in the detoxification of hydrogen peroxide. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Expression of this gene is restricted to embryos and adult olfactory epithelium. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30077501 30089997 - 28471073 28483570 - 28503296 28515793 - 1580863;6480464;6907045;8554872 10652368;11368344;12477932;12775843;15910762;19913121;20200426;20628086;9501919 257202 E7ERK5;P59796 ABBA01038020;AL049543;AMYH02013394;AY324826;BC133691;BC148315;CH471081;NM_182701;Z98745 AAI33692;AAP85543;ABM81789;EAX03167;NP_874360;P59796 Hs.448570 1797666;2189649;7187261 D6S2217;GPX6_2570 GPX5p;GPXP3;GPx-6;GSHPx-6;dJ1186N24;dJ1186N24.1 OTTHUMP00000042350;OTTHUMP00000216813;glutathione peroxidase 6;glutathione peroxidase pseudogene 3 APPROVED protein-coding ENSG00000198704 HGNC:4558 12132 607913 REVIEWED 1606522 GRAMD1B GRAM domain containing 1B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-nicotine; disodium selenite 11 11 11 q24.1 120555834 120652938 + 123325191 123498478 + 123420191 123627771 + 6480464;8554872 10574462;12107411;12477932;12975309;18758461;19946888;20332261;20639881;20731705;22700719;23770605;24292274 57476 B3KXJ5;B7Z4N9;E7EPH8;E9PRD6;J3KNL5;Q3KR37 AB033027;ABBA01031269;ABBA01031270;ABBA01031271;AI815988;AK127457;AK297606;AK307795;AMYH02025718;AP000783;AP000841;AP002765;AY358924;BC011969;BC019049;BC035131;BC040970;BC063616;BC075859;BC105741;BC105931;BC105932;BC107480;BQ636364;CH471065;NM_001286563;NM_001286564;NM_020716;XM_005271619;XM_005271621;XM_005271622;XM_005271623;XM_005271624;XM_006718887;XM_006718888;XM_006718889;XM_006718890;XM_006718891;XM_006718892 AAI05742;AAI05932;AAI05933;AAI07481;AAQ89283;BAA86515;BAG54507;BAH12625;EAW67548;NP_001273492;NP_001273493;NP_065767;Q3KR37;XP_005271676;XP_005271678;XP_005271679;XP_005271680;XP_005271681;XP_006718950;XP_006718951;XP_006718952;XP_006718953;XP_006718954;XP_006718955 Hs.144725;Hs.732509 1334982;1338051;1339349;1681251;1691120;1736979;1738107;1847144;2123489;2139589;2173132;7190801 D11S1316;D11S2691;D11S3734;D11S4144;D11S4551;D7S611;RH79909;SGC31336;SHGC-2067;SHGC-35011;SHGC-74617 KIAA1201;MGC125622;MGC125623;MGC125625 GRAM domain-containing protein 1B;OTTHUMP00000231683;OTTHUMP00000231684;OTTHUMP00000231685 protein-coding ENSG00000023171 HGNC:29214 VALIDATED 1606791 GRAMD1C GRAM domain containing 1C ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; cyclosporin A 3 3 3 q13.31 111966333 112074472 + 113557671 113666021 + 113838824 113947174 + 6480464;8554872 12477932;12975309;14702039;21906983 54762 B3KUR5;B4DF12;C9J7B8;C9K0V2;E9PHT3;F8WCA8;Q8IYS0 ABBA01061641;ABBA01061642;ABBA01061643;ABBA01061644;ABBA01061645;ABBA01061646;AC079944;AC128687;AK093181;AK097783;AK292846;AK292964;AK293884;AK304142;AL133661;AMYH02007455;AMYH02007456;AY358725;BC028972;BC035040;BX648633;CH471052;CV575069;DC416411;NM_001172105;NM_017577;XM_005247546;XM_005247547 AAH28972;AAH35040;AAQ89087;BAF85535;BAF85653;BAG52669;BAG53527;BAG57273;BAH14115;CAB63774;CAH10770;EAW79621;EAW79622;EAW79623;EAW79624;NP_001165576;NP_060047;Q8IYS0;XP_005247603;XP_005247604 Hs.24583 1645066;1678137;1684806;1687097;1693758;1701034;1765079;2113638 A009J19;RH104144;RH79691;RH93691;RH93860;SHGC-148612;SHGC-58831;UniSTS:478961 DKFZp434C0328;DKFZp686K06117;FLJ35862;FLJ40464 GRAM domain-containing protein 1C;OTTHUMP00000214929;OTTHUMP00000214931;OTTHUMP00000214932;OTTHUMP00000214933 protein-coding ENSG00000178075 HGNC:25252 VALIDATED 1605266 GRAMD2 GRAM domain containing 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH bisphenol A; lithium chloride; valproic acid 15 15 15 q23 49338482 49376472 - 72452147 72490136 - 72159806 72197795 - 6480464 12477932;14702039;16344560;23319000;8889548 196996 H3BTA1;H3BTF7;H3BTY3;H3BUI8;Q8IUY3 ABBA01038734;ABBA01038735;AC020779;AK002016;AK095072;AK096501;AK303724;AMYH02030750;AMYH02030751;BC008057;BC024783;BC038451;BM663624;CH471082;DA854662;NM_001012642 AAH38451;AAI60185;BAG52980;BAG64700;EAW77882;EAW77883;NP_001012660;Q8IUY3 Hs.596332;Hs.706272 1651359;1709162;1767423;2133199;2155989;2169495;2177985 D15S1300;RH48501;RH66304;RH67936;SHGC-85743;STS-H64591;T03512 GRAM domain-containing protein 2 protein-coding ENSG00000175318 HGNC:27287 13161 VALIDATED 1604604 GRAMD3 GRAM domain containing 3 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasmic microtubule; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 5 5 5 q23.2 121652415 121786450 + 125695788 125829853 + 126360096 126494161 + 6480464;8554872 12477932;14702039;15489334;17081983;17207965;19322201;20125193;20379614;21441570;8125298 65983 B7Z4W8;D6R9P9;D6REP5;D6RFH3;E9PD09;Q96HH9 ABBA01068905;ABBA01068906;AC008546;AC093535;AK024966;AK225829;AK293307;AK294656;AK296267;AK298009;AK298349;AK300154;AK303857;AK316288;AL157454;AL583910;AMYH02012138;AY116970;BC008590;CH471086;DC371647;DC413835;DC424558;NM_001146319;NM_001146320;NM_001146321;NM_001146322;NM_023927;XM_005272057;XM_005272058;XM_005272059;XM_005272060;XM_005272061;XM_005272062;XM_005272063;XM_005272064;XM_005272065 AAH08590;AAM77213;ADQ32738;BAB15045;BAH11488;BAH11836;BAH12297;BAH12704;BAH12763;BAH13224;BAH14068;BAH14659;CAC29494;EAW48852;EAW48853;EAW48854;EAW48855;NP_001139791;NP_001139792;NP_001139793;NP_001139794;NP_076416;Q96HH9;XP_005272114;XP_005272115;XP_005272116;XP_005272117;XP_005272118;XP_005272119;XP_005272120;XP_005272121;XP_005272122 Hs.363558 1668160;1709704;1717931;1856736;2136310;2149769;2219202 NS3TP2__6075;RH122792;RH46947;RH68860;RH69733;SHGC-86340;WI-13609 FLJ21313;NS3TP2 GRAM domain-containing protein 3;HCV NS3-transactivated protein 2;OTTHUMP00000159190;OTTHUMP00000223032;OTTHUMP00000223033;OTTHUMP00000223036;OTTHUMP00000223037;hepatitis C virus nonstructural protein 3-transactivating protein 2 protein-coding ENSG00000155324 HGNC:24911 11402 VALIDATED 1603792 GPX8 glutathione peroxidase 8 (putative) ENCODES a protein that exhibits peroxidase activity; INVOLVED IN oxidation-reduction process (inferred); response to oxidative stress (inferred); FOUND IN endoplasmic reticulum lumen (inferred); integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; coumestrol 5 5 5 q11.2 51408830 51415975 + 54455984 54463129 + 55160156 55167301 + 6480464 12477932;12975309;14702039;17207965;18498225;21139048;21215271;21890473;23000965;23929719 493869 E7ETY7;J3KNB5;Q8TED1 ABBA01015737;AC091977;AK022110;AK074216;AK298545;AK307365;AMYH02011309;AY358715;BC029424;BX537894;BX647770;CH471123;NM_001008397;XM_006714631 AAH29424;AAQ89077;ADQ32216;BAB85019;BAG60742;EAW54908;EAW54909;NP_001008398;Q8TED1;XP_006714694 Hs.289044 2125206;2184026 STS-N22158;STS-N33071 EPLA847;GPx-8;GSHPx-8;UNQ847 OTTHUMP00000222385;OTTHUMP00000222386;OTTHUMP00000222387;probable glutathione peroxidase 8 protein-coding HGNC:33100 17416 VALIDATED 6481441 GRAMD4P2 GRAM domain containing 4 pseudogene 2 22 22 16227139 16227601 + 15750362 15750824 - 100873881 ABBA01141167;AMYH02037968;AP000528;NG_032336 pseudo HGNC:39654 INFERRED 1315932 GPX7 glutathione peroxidase 7 ENCODES a protein that exhibits peroxidase activity; INVOLVED IN oxidation-reduction process (inferred); response to oxidative stress (inferred); PARTICIPATES IN arachidonic acid metabolic pathway; glutathione metabolic pathway; FOUND IN endoplasmic reticulum; INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; cobalt atom 1 1 1 p32 51354739 51361416 + 53068043 53074723 + 52602371 52609051 + 6480464;6907045 10652368;11368344;12477932;12975309;14702039;15294905;15489334;15910762;16189514;16710414;16713569;19913121;20200426;20628086;20819778;21215271;23123197;23454490;23580780;23828861;23919619;24692067;9501919 2882 Q96SL4 ABBA01074768;AF091092;AF320068;AK027683;AL356976;AMYH02001020;AY358402;BC032788;BI550170;BU627166;CH471059;DQ096732;NM_015696;XM_006710586;XM_006710587 AAC72961;AAH32788;AAN76501;AAQ88768;AAY88741;ABM84944;BAB55294;EAX06777;NP_056511;Q96SL4;XP_006710649;XP_006710650 Hs.43728 1653890 SHGC-74832 CL683;FLJ14777;GPX6;GPx-7;GSHPx-7;NPGPx OTTHUMP00000010021;glutathione peroxidase 6;non-selenocysteine containing phospholipid hydroperoxide glutathione peroxidase protein-coding ENSG00000116157 HGNC:4559 13606 615784 VALIDATED 1322253 GRAMD1A GRAM domain containing 1A FOUND IN integral component of membrane (inferred); INTERACTS WITH coumestrol; resveratrol; trans-resveratrol 19 19 19 q13.13 32204615 32230747 + 35485688 35517375 + 34994784 35026471 + 737633;6480464 12477932 10819331;14702039;16303743;18029348;21890473;21906983;21988832;24816145 57655 M0QZ12;M0R0J9;Q96CP6;S4R3I2 AB040966;ABBA01018728;AC020907;AK026064;AK074827;AK074864;AK074914;AK097215;AMYH02035973;BC014077;BC041618;NM_001136199;NM_020895;XM_005259103;XM_005259104;XM_005259105;XM_005259106;XM_006723297;XM_006723298;XM_006723299;XM_006723300 AAH14077;BAA96057;BAC11289;BAG52019;BAG53435;NP_001129671;NP_065946;Q96CP6;XP_005259160;XP_005259161;XP_005259162;XP_005259163;XP_006723360;XP_006723361;XP_006723362;XP_006723363 Hs.515351 1335220;1669818;1759413;1849959;7183692;7184013 A004D32;D19S425;D19S569;SHGC-151016 FLJ22411;FLJ90346;KIAA1533 GRAM domain-containing protein 1A protein-coding ENSG00000089351 HGNC:29305 11153 VALIDATED 7356645 GRAMD4P1 GRAM domain containing 4 pseudogene 1 21 21 15038188 15039878 - 13665867 13667557 - 100631252 AL050303;AMYH02037514;NG_029309 pseudo HGNC:39653 INFERRED 7378850 GRAMD4P3 GRAM domain containing 4 pseudogene 3 14 14 19614210 19615889 - 19371817 19373496 + 100631248 AL512624;AMYH02028785;NG_029292 pseudo HGNC:49138 INFERRED 7376094 GRAMD4P6 GRAM domain containing 4 pseudogene 6 15 15 22025293 22026976 + 21382383 21384066 + 100631250 AC060814;AC068446;AC136352;AMYH02030009;NG_029297 pseudo HGNC:49141 INFERRED 7381348 GRAMD4P7 GRAM domain containing 4 pseudogene 7 18 18 14485803 14487493 + 14485804 14487494 + 100631251 ABBA01074061;AMYH02034358;AP006261;NG_029305 pseudo HGNC:49142 INFERRED 1353606 GRAP GRB2-related adaptor protein This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012] 17 17 17 p11.2 5455 9161 - 18923969 18950336 - 19020656 19047023 - 1580863;6480464 10391903;11741599;12186560;12477932;12491092;12819203;15174222;15489334;18295596;19836472;23333304;24816145;8647802;8995379;9484780;9489702 10750 A8MW78;I3L2P9;J3QRP9;Q13588 ABBA01013330;ABBA01195256;AC003957;AC007952;AMYH02033133;AMYH02033134;AMYH02033135;AMYH02033136;AMYH02033137;BC035856;BC063035;BQ056077;BT019981;CR541941;CR541966;NM_006613;U52518;XM_005256425;XM_005256426 AAC50541;AAH35856;AAH63035;AAV38784;CAG46739;CAG46764;NP_006604;Q13588;XP_005256482;XP_005256483 Hs.567416 2110439;2131810;2191673 AF021121;GRAP_9174;MARC_4617-4618:966894528:1 MGC64880 GRB2-related adapter protein;OTTHUMP00000065765;OTTHUMP00000065766;growth factor receptor-bound protein 2-related adaptor protein APPROVED protein-coding HGNC:4562 05062 604330 REVIEWED 7379399 GRAMD4P8 GRAM domain containing 4 pseudogene 8 2 2 132404277 132405956 - 131646704 131648383 - 100631247 ABBA01028227;AC093838;AMYH02004811;NG_029310 pseudo HGNC:49143 INFERRED 7367150 GRAMD4P5 GRAM domain containing 4 pseudogene 5 15 15 21018619 21020302 + 20813290 20814973 + 100631249 ABBA01114425;AC012414;AMYH02029992;NG_029296 pseudo HGNC:49140 INFERRED 1604385 GRAMD4 GRAM domain containing 4 GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011] 22 22 22 q13.31 30928417 30991380 + 46973124 47078652 + 46576017 46682755 + 6480464 11937641;12477932;15461802;15565177;16600870;20379614;21127500;21832049;21890473;23388340;24816145;9872452 23151 H0Y5A3;Q6IC98;X6RHZ2;X6RIP6 AB018310;ABBA01010460;ABBA01010461;AI399959;AL021392;AL096766;AL137628;AMYH02038540;BC011984;BC063558;BC080189;BC129837;CH471138;CR456470;HI573874;NM_015124;R39786;XM_005261396;XM_005261397;XM_005261398;XM_005261399;XM_005261400;XM_006724168;XM_006724169;XM_006724170 AAH80189;AAI29838;BAA34487;CAG30356;CBX47426;EAW73432;EAW73433;EAW73434;EAW73435;EAW73436;EAW73437;NP_055939;Q6IC98;XP_005261453;XP_005261454;XP_005261455;XP_005261456;XP_005261457;XP_006724231;XP_006724232;XP_006724233 Hs.475150 1686466;1694534;1847856;2138967;2138969 A005V42;AL031649;G20543;G43099;RH15769 DIP;KIAA0767;MGC149847;MGC90497;dA59H18.1;dJ439F8.1 GRAM domain-containing protein 4;OTTHUMP00000197288;death-inducing protein;death-inducing-protein APPROVED protein-coding ENSG00000075240 HGNC:29113 11107 613691 VALIDATED 733545 GRASP GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012] 12 12 12 q13.13 51203041 51211963 + 52400729 52409673 + 52006945 52015889 + 1580863;6480464;8554872 10828067;11850456;12477932;12586822;15489334;17396155;20016009;22523075;22931251;23441967;24505136;9828130 160622 F8VRX5;Q7Z6J2 ABBA01031622;ABBA01031623;AC025259;AJ227899;AMYH02026497;AMYH02026498;BC035500;BC052967;BC053666;CH471111;HC025810;HY035281;HY052304;NM_001271856;NM_181711;XM_005268691;XM_006719261 AAH35500;AAH52967;AAH53666;CBH19836;EAW58220;EAW58221;NP_001258785;NP_859062;Q7Z6J2;XP_005268748;XP_006719324 Hs.407202 1650198;1747997 G64229;STS-AA024848 GRP1-associated scaffold protein;OTTHUMP00000241631;TAMALIN;general receptor for phosphoinositides 1-associated scaffold protein;grp1 (general receptor for phosphoinositides)-associated scaffold protein protein-coding ENSG00000161835 HGNC:18707 17077 612027 REVIEWED 1352618 GRB10 growth factor receptor-bound protein 10 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010] 7 7 7 p12.2 50722672 50926043 - 50657760 50861159 - 50590063 50793462 - 1625124;1580863;6480464;6484113 17347799 10446181;10454568;10585452;10856193;10861285;10871840;11223174;11494124;11527390;11551902;11809791;11812778;12421765;12477932;12493740;12551896;12697834;12771153;12783867;12853948;12853971;14702039;15060076;15489334;15506681;15664450;15722337;15870923;15952796;1633648;16344560;16434550;16644667;16964243;17376403;17474147;17846126;19165858;19322201;19487367;19648926;20174874;20301499;20878056;21565611;21659604;21779181;21832049;21900206;22504420;22581228;22679513;22939629;23190452;23246379;23512250;24163370;7479769;7665556;8403458;8621530;8764099;8776723;8798417;8798570;9006901;9039502;9070953;9360986;9506989;9553107;9632636;9747873;9753425;9847074;9881709 2887 C9JTW6;H7C3B9;Q13322 AB000731;ABBA01011801;ABBA01011802;AC004920;AC005153;AC007089;AC080092;AF000017;AF000018;AF001534;AF073363;AF073364;AF073365;AF073366;AF073367;AF073368;AF073369;AF073370;AF073371;AF073372;AF073373;AF073374;AF073375;AF073376;AF073377;AF073378;AI360831;AJ271366;AK021643;AK289511;AMYH02015694;AMYH02015695;AMYH02015696;BC024285;BQ006601;BU598359;BX649028;CH236955;CH471128;CX757289;D86962;DA634556;HC025764;NG_012305;NM_001001549;NM_001001550;NM_001001555;NM_005311;U34355;U66065;U69276;XM_005271760;XM_005271761;XM_005271765;XM_005271766;XM_005271767;XM_006715703;XM_006715704;XM_006715705 AAA88819;AAB08431;AAB81134;AAC19748;AAC19749;AAC50671;AAC83654;AAC83655;AAH24285;AAS00377;AAS07426;ABM82626;ABM87845;BAA13198;BAF76353;BAF82200;CAB96542;CBH19814;EAL23897;EAW60964;EAW60965;EAW60966;EAW60967;EAW60968;NP_001001549;NP_001001550;NP_001001555;NP_005302;Q13322;XP_005271817;XP_005271818;XP_005271822;XP_005271823;XP_005271824;XP_006715766;XP_006715767;XP_006715768 Hs.164060 1656963;1662410;1664303;1671506;1687199;1705112;1735678;1788280;2109369;2139138;2142472;2142830;2146031;2159921;2171679;5017937 D7S2137E;D7S3125;GDB:1317480;GDB:4585083;GDB:4585598;GDB:6028674;GRB10_964;MARC_51491-51492:1152645911:1;RH11858;RH25419;RH65056;SHGC-23058;SHGC-52576;SHGC-79976;WI-14569;WI-18551 GRB-IR;Grb-10;IRBP;KIAA0207;MEG1;RSS GRB10 adapter protein;GRB10 adaptor protein;OTTHUMP00000197988;OTTHUMP00000197989;OTTHUMP00000197990;OTTHUMP00000197991;OTTHUMP00000197992;OTTHUMP00000197993;OTTHUMP00000197994;insulin receptor-binding protein Grb-IR;maternally expressed gene 1 APPROVED protein-coding ENSG00000106070 HGNC:4564 03312 601523 REVIEWED 3255320 GRAPL GRB2-related adaptor protein-like INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); paracetamol (ortholog) 17 17 p11.2 19030782 19062148 + 19127469 19158835 + 6480464 12477932;24816145 400581 I3L2E9;K7EIX7;K7EKU7;K7ELI1;Q8TC17 AC007952;AMYH02033146;BC026233;BC060883;BC157869;NM_001129778 AAH26233;AAI57870;NP_001123250;Q8TC17 Hs.661470;Hs.677674 2131810;2152729;5107504;5127550 AF021121;AF021129;RH68044;SHGC-59928 GRB2-related adapter protein LOC400581;GRB2-related adapter protein-like protein-coding HGNC:37240 PROVISIONAL 732013 GRB14 growth factor receptor-bound protein 14 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Transcript variants have been reported for this gene, but their full-length natures have not been determined to date. [provided by RefSeq, Jul 2008] 2 2 2 q22-q24 158959227 159088293 - 165349323 165478360 - 164492813 164621850 - 1625124;1580863;61620;6480464;6484113;8554872 17347799;9748281 10521483;10713090;11235915;11278563;11607834;11726652;12242277;12477932;12853971;15210700;15322292;15372466;15489334;16246733;16582879;16849634;19268276;19359342;19648926;20339536;20379614;20932831;20935629;21572416;21874001;21988832;22158039;22581228;22948154;23190452;23457408;23670221;23754948;24273167;8647858;8812444 2888 C9JD37;C9JLT6;Q14449 ABBA01004908;ABBA01004909;ABBA01004910;ABBA01004911;AC107075;AC110086;AK301961;AK302129;AK307744;AK309590;AK313153;AMYH02005116;AMYH02005117;AMYH02005118;AMYH02005119;AMYH02005120;AMYH02005121;BC053559;CH471058;L76687;NM_004490;XM_005246477;XM_006712457;XR_427085 AAC15861;AAH53559;AAY14768;AAY24176;ACE86896;BAG35971;BAH13595;BAH13632;EAX11342;EAX11343;NP_004481;Q14449;XP_005246534;XP_006712520 Hs.411881 1649754;1686498;1749367;5017775;5095978 GRB14;RH27221;RH69060;SHGC-111120;WI-11831 GRB14 adapter protein;OTTHUMP00000163009;OTTHUMP00000204702;growth factor receptor bound protein 14 2314777 GLUCO106_H APPROVED protein-coding ENSG00000115290 HGNC:4565 03313 601524 REVIEWED 1602534 GRASPOS GRP1-associated scaffold protein opposite strand 12q 12477932 692159 BC028005 Hs.621295 protein-coding HGNC:32680 1350364 GREM2 gremlin 2, DAN family BMP antagonist This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. [provided by RefSeq, Jul 2008] 1 1 1 q43 213908963 214031592 - 240652873 240775462 - 240489573 240612162 - 6480464;8554872 12477932;14525956;14702039;15039429;15254711;15489334;15621726;16710414;17029022;19626040;20379614;22199011;22542470;23223679;23437003;23902946 64388 Q9H772 ABBA01033234;ABBA01033235;AK024848;AL358176;AMYH02003022;AMYH02003023;BC046632;BQ005641;CH471098;NM_022469;XM_005273226 AAH46632;BAB15026;EAW70083;EAW70084;NP_071914;Q9H772;XP_005273283 Hs.98206 1660527;1689821;1755513;2120592;2139884 A004V04;RH68323;RH92820;SHGC-142373;SHGC-76594 CKTSF1B2;DAND3;PRDC DAN domain family member 3;OTTHUMP00000037834;cysteine knot superfamily 1, BMP antagonist 2;gremlin 2 homolog, cysteine knot superfamily (xenopus laevis);gremlin 2, cysteine knot superfamily, homolog;gremlin-2;protein related to DAN and cerberus APPROVED protein-coding ENSG00000180875 HGNC:17655 16390 608832 REVIEWED 1316895 GRAP2 GRB2-related adaptor protein 2 This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014] 22 22 22 q13.2 24099151 24169444 + 40297086 40369347 + 39901082 39973343 + 1580863;6480464;6907045;8554872 10021361;10209041;10224278;10591208;10801854;10811803;10820259;11048639;11313918;11607830;11641407;11741599;11997510;12062812;12084069;12176364;12359715;12477932;12487779;12496419;12522270;12554803;12773374;12917638;15063762;15100220;15144186;15174051;15461802;15489334;15696170;16189514;16273093;16730941;16818765;17235283;17652306;18029348;18295596;19027225;19817957;19850743;20079431;20159979;20237496;20379614;21179510;22267732;23399893;24816145;9857184;9872323;9878555 9402 B1AH86;B7Z8E3;B7Z8F8;O75791;Q6FI14 ABBA01055585;ABBA01055586;AF042380;AF090456;AF102694;AF121002;AF129476;AF236119;AF236120;AJ011736;AK303280;AK303332;AK303470;AK303512;AK303657;AK312830;AMYH02038391;AY069959;BC025692;BC026002;CH471095;CR456498;CR536524;CR541849;DC409651;HY091328;NM_001291824;NM_001291825;NM_001291826;NM_001291828;NM_004810;XM_005261836;XM_005261841;XM_006724376;Y18051;Z82206 AAC69273;AAD04926;AAD13027;AAD41782;AAF31758;AAF60319;AAF60320;AAH25692;AAH26002;AAL58573;ABM84070;ABM87430;BAG35685;BAH13929;BAH13944;BAH13969;BAH13978;BAH14008;CAA09757;CAA77021;CAG30384;CAG38761;CAG46647;CAK54526;CAK54825;EAW60356;EAW60357;EAW60358;EAW60359;EAW60360;EAW60361;NP_001278753;NP_001278754;NP_001278755;NP_001278757;NP_004801;O75791;XP_005261893;XP_005261898;XP_006724439 Hs.517499 1336070;1747531;1750207;1769236;2164149 A008B01;D22S284;G65389;SHGC-112304;SHGC-52589 GADS;GRAP-2;GRB2L;GRBLG;GRID;GRPL;GrbX;Grf40;Mona;P38;grf-40 GRB-2-like protein;GRB2-related adapter protein 2;GRB2-related protein with insert domain;OTTHUMP00000199126;OTTHUMP00000199127;SH3-SH2-SH3 adapter Mona;SH3-SH2-SH3 adaptor molecule;adapter protein GRID;grf40 adapter protein;growth factor receptor-binding protein;growth factor receptor-bound protein 2-related adaptor protein 2;hematopoietic cell-associated adapter protein GrpL;hematopoietic cell-associated adaptor protein GRPL APPROVED protein-coding HGNC:4563 05156 604518 REVIEWED 733273 GRB7 growth factor receptor-bound protein 7 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 17 17 17 q12 34553923 34563612 + 37894162 37903538 + 39737909 39747285 + 1580863;6480464;6484113;8554872 10377264;10446223;10521483;10664463;10803466;10893408;11075810;11607834;11809769;11897833;12021278;12061724;12223469;12444928;12477932;12852788;12853971;12975581;1409582;14585167;14702039;14968112;15010812;15470489;15489334;15778465;15806159;15841400;15930003;16273093;16344560;16354586;16595785;17117180;17426702;17634422;17705331;17875712;17916906;19124506;19473962;19648926;19717535;20126311;20370637;20388850;20622016;20635137;20665473;21139214;21900206;22253820;22584052;22673522;22811067;23743201;24089360;24464577;8125298;8631863;8940081;8988034;9079677;9125150;9360986;9516479;9710451 2886 J3QKK7;J3QL76;Q14451 AB008789;AB008790;ABBA01031857;AC079199;AF274875;AK027729;AK125544;AK222849;AK222870;AK290115;AK294620;AK314368;AMYH02033388;AU124875;BC006535;BE247550;BT006686;CH471152;D43772;D87513;DC384178;NG_029932;NM_001030002;NM_001242442;NM_001242443;NM_005310;XM_006721844 AAG25938;AAH06535;AAP35332;ABM84787;ABW03622;BAA07827;BAA13412;BAA29059;BAA29060;BAD96569;BAD96590;BAF82804;BAG36998;BAG51372;BAG54211;BAG57803;EAW60600;EAW60601;NP_001025173;NP_001229371;NP_001229372;NP_005301;Q14451;XP_006721907 Hs.86859 2125561;2126411;2218546 GRB7_4323;STS-D43772;WI-9366 B47 GRB7 adapter protein;OTTHUMP00000164349;OTTHUMP00000164350;OTTHUMP00000164351;OTTHUMP00000164352;epidermal growth factor receptor GRB-7;growth factor receptor binding protein grb7 APPROVED protein-coding ENSG00000141738 HGNC:4567 03311 601522 REVIEWED 1351643 GREB1L growth regulation by estrogen in breast cancer-like ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; arsenite(3-) 18 18 18 q11.2 15628176 15908773 + 18822203 19105384 + 21242242 21525423 + 6480464;8554872 11214970;12477932;14702039;15146197 80000 B4DDS9;J3KRT4;J3QQW0;J3QR03;Q9C091 AA703199;AB051559;ABBA01022687;ABBA01022688;ABBA01022689;ABBA01022690;ABBA01022691;ABBA01022692;ABBA01022693;AC011774;AC015878;AC022809;AK023749;AK293321;AK309723;AMYH02034372;AMYH02034373;AMYH02034374;AMYH02034375;AMYH02034376;AMYH02034377;AMYH02034378;BC125017;BE336624;BG774496;CH471088;CN369824;CN369826;DY655149;NM_001142966;XM_006722547;XM_006722548 AAI25018;BAB14666;BAB21863;BAG56840;EAX01122;EAX01123;EAX01124;EAX01125;EAX01126;NP_001136438;Q9C091;XP_006722610;XP_006722611 Hs.149020 1335116;1646746;1729922;1762111;2123401;2154465 D18S1149;D18S1230;D18S45;RH44941;RH45685;SHGC-146011 C18orf6;KIAA1772 GREB1-like protein APPROVED protein-coding ENSG00000141449 HGNC:31042 11161 PROVISIONAL 1605705 GREB1 growth regulation by estrogen in breast cancer 1 This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p25.1 11591030 11699842 + 11674242 11782914 + 11534116 11642788 + 6480464;8554872 11103799;12477932;14702039;15001666;15986123;16496412;17463000;17666587;18794456;19240061;19842031;19945309;21577013;22359603;22884659;23056300;23104006;23251661;23403292;23876972;24469735;9628581 9687 C9JIG0;F8W6E5;Q4ZG55 AB011147;ABBA01015651;ABBA01015652;ABBA01015653;AC011994;AC110754;AF245388;AF245389;AF245390;AK056886;AMYH02003291;AMYH02003292;BC034455;BC054502;BC071853;CH471053;NG_029429;NM_014668;NM_033090;NM_148903;XM_005246192;XM_005246195;XM_005246196;XM_005246197;XM_006711904;XM_006711905;XM_006711906;XM_006711907;XM_006711908;XR_426961 AAG39036;AAG39037;AAG39038;AAH54502;AAH71853;AAI72757;AAX88907;BAA25501;EAX00925;EAX00926;EAX00927;EAX00928;EAX00929;EAX00930;NP_055483;NP_149081;NP_683701;Q4ZG55;XP_005246249;XP_005246252;XP_005246253;XP_005246254;XP_006711967;XP_006711968;XP_006711969;XP_006711970;XP_006711971 Hs.467733 1695432;1723275;2162513;2191803;5014051;5015619;5016478;5016851;5022200;5022450;5022651;5037552 D10S275;D11S2921;D11S3114;D8S2278;D8S2279;GDB:434012;L18426;MARC_8069-8070:996688263:1;RH122327;RH69684;RH80031;SHGC-68806 KIAA0575 OTTHUMP00000180581;OTTHUMP00000180582;OTTHUMP00000180583;gene regulated by estrogen in breast cancer;gene regulated in breast cancer 1 protein APPROVED protein-coding ENSG00000196208 HGNC:24885 13611 611736 REVIEWED 1313942 GRHL1 grainyhead-like 1 (Drosophila) This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009] 2 2 2 p25.1 10007717 10058329 + 10091792 10142412 + 9951663 10002284 + 1580863;6480464;8554872 10644752;12175488;12393799;12477932;12549979;15489334;15815621;16344560;18004979;18029348;23535732;24375798;24419085 29841 B7Z1S6;C9JYY8;F8WFB0;J3KPZ1;Q9NZI5 AA234992;ABBA01015598;ABBA01015599;ABBA01015600;AC010969;AF198489;AF411210;AI686262;AK293855;AK296982;AK312950;AMYH02003262;BC063299;BC067519;BC067520;BC067521;BC098456;BE537504;BF573452;CB048030;CB960104;CD559574;CH471053;DA860769;KF510742;NM_198182;XM_005246158;XM_005246159;XM_006711882;XM_006711883;XM_006711884 AAF32276;AAH67519;AAH67520;AAH67521;AAM22616;AAX93273;BAG35791;BAG59523;BAH11612;EAX00973;NP_937825;Q9NZI5;XP_005246215;XP_005246216;XP_006711945;XP_006711946;XP_006711947 Hs.418493 1335951;1666664;1670812;1696504;1760499;2109941;2134271;5015961;5022578;5037552 D15S1477;D1S1423;D1S249;D8S2279;RH16450;SHGC-143472;SHGC-83141;TFCP2L2_9592;WI-11185;WI-16721 LBP32;MGR;NH32;TFCP2L2 LBP protein 32;OTTHUMP00000200390;OTTHUMP00000213819;grainyhead-like protein 1 homolog;mammalian grainyhead;transcription factor CP2-like 2;transcription factor LBP-32 APPROVED protein-coding ENSG00000134317 HGNC:17923 18176 609786 REVIEWED 1342517 GRHL2 grainyhead-like 2 (Drosophila) The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009] 8 8 8 q22.3 98689599 98866864 + 102504668 102681954 + 101492440 101669726 + 6480464;7240710;8554872;8699517 12175488;12393799;12477932;12549979;14702039;15489334;17921507;18029348;18752864;19015635;20301607;20379614;20938050;20978075;21557239;21832049;21949371;22379025;23254293;23284647;23690579;23813623;23814079;23897914;24068586;24131873;24390342 79977 Q6ISB3 ABBA01037595;ABBA01037596;ABBA01037597;AK002034;AK023844;AK292853;AK296817;AK310221;AMYH02018517;AMYH02018518;AMYH02018519;AMYH02018520;AP000426;AP001207;BC069618;BC069633;BC069638;BC129822;BC129823;CH471060;HC289750;KF458814;NG_011971;NM_024915 AAH69618;AAH69633;AAH69638;AAI29823;AAI29824;BAB14699;BAF85542;BAG59390;CBJ06470;EAW91833;EAW91834;NP_079191;Q6ISB3 Hs.661088 1674222;1719385;2149335;2179395 RH123420;RH36161;RH65468;WI-11745 BOM;DFNA28;ECTDS;FLJ11172;FLJ13782;MGC149294;MGC149295;TFCP2L3 OTTHUMP00000195101;OTTHUMP00000195102;brother of mammalian grainyhead;grainyhead-like protein 2 homolog;transcription factor CP2-like 3 APPROVED protein-coding ENSG00000083307 HGNC:2799 10545 608576;608641;616029 REVIEWED 1346462 GREM1 gremlin 1, DAN family BMP antagonist This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 15 15 15 q13.3 9812058 9828720 + 33010175 33026870 + 32717974 32734669 + 632526;1580863;6480464;6484113;8554872 10026205 10744662;10894942;12135612;12477932;12808456;12885271;14702039;15064755;15340161;15489334;15528323;15539560;15957132;16545136;16606614;16816361;17003113;17015616;17207965;17403698;17975199;17980714;18314105;18469115;18545679;19031438;19453261;19505925;19577778;19597895;20023658;20042676;20150533;20610440;20659471;20660291;20705941;21214523;21655089;21761138;21935575;21978004;22048656;22160428;22525892;22561515;22576962;22706573;22839096;22870311;23266556;23548835;23659962;23826422;24003215;24125106;24233491;24286177;24550394;24755068;24788093;9660951 26585 A6XAA7;B3KTR9;H0YLY2;O60565 AB032372;ABBA01038561;AC090877;AC243948;AF045800;AF110137;AF154054;AK095741;AK095890;AK095972;AK312265;AL359059;AL359060;AY232290;BC069525;BC093778;BC101611;CH471125;DQ100070;JA885101;NG_033791;NM_001191322;NM_001191323;NM_013372;W19275;XM_005254301;XM_006725542 AAC39725;AAF06677;AAG23891;AAH69525;AAH93778;AAI01612;AAP69985;AAZ29612;ADQ32880;BAA84462;BAC04643;BAG35196;BAG53181;CCQ77676;EAW92267;EAW92268;EAW92269;NP_001178251;NP_001178252;NP_037504;O60565;XP_005254358;XP_006725605 Hs.40098 1647241;2110441;2159718;2169858;5492599 GREM1_9497;RH47687;SHGC-54520;STS-N21113;UniSTS:481747 CKTSF1B1;CRAC1;DAND2;DRM;HMPS;IHG-2;MGC126660;PIG2 DAN domain family member 2;GREMLIN;OTTHUMP00000159660;cell proliferation-inducing gene 2 protein;colorectal adenoma and carcinoma 1;cysteine knot superfamily 1, BMP antagonist 1;down-regulated in Mos-transformed cells protein;gremlin 1, cysteine knot superfamily, homolog;gremlin 1-like protein;gremlin-1;increased in high glucose protein 2;increased in high glucose-2;proliferation-inducing gene 2 2289561 BW440_H APPROVED protein-coding HGNC:2001 07048 603054 REVIEWED 1318023 GRHL3 grainyhead-like 3 (Drosophila) This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010] 1 1 1 p36.11 22972902 23018113 + 24645812 24690972 + 24319322 24364482 + 6480464;7240710;8699517;8554872 12477932;12549979;14702039;15489334;16344560;16710414;18814840;21856281;22581228;22614019;22829784;22931925;23455924;23685552;24360809;24363083 57822 E9PLG9;E9PLT6;Q8TE85 ABBA01059903;ABBA01059904;AK074386;AK315164;AL031431;AL137763;AL138902;AMYH02000518;AMYH02000519;AY231160;AY231161;BC036890;BU848928;CH471134;DA714132;NG_009308;NM_001195010;NM_021180;NM_198173;NM_198174 AAH36890;AAO67370;ABZ92406;BAB85067;BAG37608;CAB70911;EAW95120;EAW95121;EAW95122;EAW95123;NP_001181939;NP_067003;NP_937816;NP_937817;Q8TE85 Hs.657920 1660541;1766127 SHGC-149508;SHGC-74407 MGC46624;SOM;TFCP2L4;VWS2 OTTHUMP00000003072;OTTHUMP00000003297;OTTHUMP00000003298;OTTHUMP00000234795;grainyhead-like protein 3 homolog;sister of mammalian grainyhead;sister-of-mammalian grainyhead;transcription factor CP2-like 4;transcription factor hSOM1 APPROVED protein-coding ENSG00000158055 HGNC:25839 12210 606713;608317 REVIEWED 732473 GRB2 growth factor receptor-bound protein 2 The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q24-q25 69906645 69994307 - 73314157 73401790 - 75318076 75405709 - 1302563;1302565;1299201;1581313;1300048;1642762;2299174;2317988;5686834;6480464;6484113;6907045 11369229;12891559;14685170;15272025;16829981;18175071;22029668;9865697 10022120;10022833;10025673;10026169;10049786;10051406;10068651;10077576;10080542;10085134;10085298;10086340;10087612;10090780;10092678;10202139;10204582;10206341;10207103;10212213;10224278;10224664;10318918;10319320;10329689;10330178;10339567;10354709;10359574;10377264;10386953;10391903;10395476;10455176;10467411;10469124;10477741;10488157;10490839;10521482;10521483;10542228;10559276;10567358;10570290;10571082;10595738;10602027;10636929;10648629;10660596;10706702;10716926;10734310;10747847;10747947;10748052;10748054;10781580;10781592;10790433;10806474;10820378;10822386;10829062;10871282;10887132;10891441;10899172;10900203;10903901;10906142;10913131;10921882;10940627;10940929;10942756;10962563;10970810;10973965;10980613;10982817;11006130;11053437;11063574;11071869;11094073;11127814;11133830;11152963;11157975;11173924;11263968;11278465;11278583;11278754;11279207;11287610;11292345;11302736;11314042;11352655;11353842;11368773;11370743;11371563;11384839;11394904;11399323;11408594;11418612;11431473;11432792;11433379;11439336;11449366;11466354;11483358;11505033;11509578;11520933;11527382;11533253;11546790;11551227;11551923;11571277;11606067;11606575;11707404;11707405;11711534;11726515;11733534;11739737;11741599;11741929;11782427;11792427;11823423;11827484;11827972;11877424;11878897;11882361;11894095;11897833;11923305;11960376;11964172;11997181;11997436;12005431;12006576;12006650;12007418;12023017;12112020;12149229;12162872;12171928;12173038;12176364;12186560;12186904;12220636;12242006;12242309;12345679;12359715;12388170;12399475;12400011;12402043;12424224;12441060;12444928;12470648;12477932;12485888;12486104;12514734;12522133;12529371;12531430;12558988;12577067;12615911;12624098;12730204;12748278;12810066;12839496;12852788;12898421;12925710;12941616;13129930;1322798;1384039;14506255;14560030;14665621;14667819;14679214;14702039;14722116;14725908;14968112;14985334;14993658;15004239;15122321;15143164;15173068;15182856;15187135;15210722;15314156;15326489;15368963;15467741;15488758;15489334;15546961;15556869;15558030;15574420;15635092;15677445;15688026;15735675;15782189;15782196;15784897;15812354;15834155;15879090;16038803;16103119;16137687;16219545;16249387;16273093;16298995;16339550;16344560;16374509;16382132;16407827;16436505;16696976;16729043;16730941;16760435;16799092;16818765;16893902;16899217;16906159;16938345;16955467;16966330;17001306;17072306;17081983;17242169;17244534;17255109;17276458;17409413;17437541;17452978;17466257;17474147;17616655;17689925;17849173;17875712;17904548;17944804;17971399;17974561;17991782;18003605;18192688;18231572;18258597;18271526;18273061;18296648;18307981;18420583;18425376;18467332;18624398;18647389;18654987;18660489;18778683;18789888;19056867;19109251;19172738;19273609;19289468;19322201;19323566;19337752;19380485;19380743;19433454;19509291;19523899;19531499;19615732;19668218;19682241;19716163;19735729;19738201;19805522;19823681;19836242;19850743;19913121;19914172;19924227;20005866;20086093;20124286;20124721;20159979;20379614;20468064;20554525;20596655;20618341;20628086;20697350;20700730;20850195;20936779;21048031;21072043;21139048;21145461;21179510;21185312;21195589;21222362;21309750;21508312;21596750;21706016;21745501;21822214;21890473;21900206;21903422;21906983;21963094;21988832;22001015;22027826;22094095;22190034;22267732;22323290;22327338;22344067;22360309;22396725;22505611;22536782;22553920;22623428;22726438;22745667;22882974;22974441;23000965;23131845;23154388;23159538;23223229;23227982;23267066;23334917;23420874;23460737;23700486;23762317;23771793;23799367;23824909;23916875;23922722;23946459;23950177;23956138;24100123;24391994;24407288;24440983;24697349;24797263;24816145;25015289;25036637;7478529;7486658;7488076;7488107;7500025;7506413;7510700;7511210;7512734;7514169;7515480;7518560;7518772;7523381;7524086;7527043;7529874;7534299;7535773;7537740;7544353;7556090;7559579;7592693;7597091;7629138;7629168;7642542;7642581;7664271;7665556;7675449;7675451;7706237;7716522;7737275;7737969;7739560;7744812;7759531;7791764;7797522;7798267;7799925;7806213;7806216;7809090;7862111;7881903;7926767;7929073;7935391;7970715;7982917;7997267;8022809;8041791;8063801;8083187;8084588;8112292;8119878;8178156;8183561;8188688;8195171;8195176;8253073;8262059;8294403;8305738;8388384;8479541;8491186;8493579;8536716;8547634;8552632;8570203;8576157;8585605;8585965;8596638;8621483;8621719;8626404;8630373;8631894;8632004;8633037;8647288;8647802;8647858;8649368;8649391;8649427;8649804;8657152;8662733;8662748;8662889;8662907;8662998;8663276;8670205;8670803;8695800;8695851;8700507;8702859;8723348;8780727;8794768;8798570;8805332;8810325;8816480;8824292;8887653;8900182;8900205;8918464;8939605;8940134;8943292;8943348;8950973;8955163;8985255;8986819;8994038;8995358;8995399;8995445;9009162;9013873;9016807;9019171;9032261;9038219;9045636;9045692;9047383;9050991;9062191;9079622;9083103;9092538;9108392;9126968;9129019;9135065;9148935;9171350;9174058;9178760;917890;9178909;9178913;9182757;9233773;9234717;9242692;9259313;9281317;9295052;9299436;9307968;9311917;9341187;9344843;9344857;9346925;9356464;9361008;9362449;9367879;9368064;9374537;9380408;9388224;9393871;9395447;9407116;9416834;9422736;9428629;9434624;9461587;9480847;9484780;9489702;9507006;9516488;9541596;9544989;9553137;9569023;9590294;9614102;9632636;9632734;9632781;9642078;9660480;9660791;9668219;9670936;9690470;9694876;9697839;9705962;9710588;9716598;9722576;9733714;9742218;9747873;9756944;9788432;9804835;9819383;9824671;9830057;9843378;9846481;9851874;9852124;9856458;9872323;9886492;9891051;9891069;9927207 2885 B0LPF3;J3KT38;J3QLF6;J3QRL5;P62993 AA452034;ABBA01028798;ABBA01028799;ABBA01028800;ABBA01028801;AC011933;AF063618;AF171699;AF246238;AF302079;AF498925;AK024539;AK091010;AK315565;AMYH02033991;AMYH02033992;AMYH02033993;AMYH02033994;AMYH02033995;BC000631;BC019082;BC033644;BC039827;BC043007;BI459414;BQ073225;BQ962129;CH471099;CR450363;CR541942;DA458680;EU332843;JX512444;L29511;M96995;NG_029556;NM_002086;NM_203506;X62852 AAA58448;AAC37549;AAC72075;AAG27442;AAG44485;AAH00631;AAM21073;AAQ13606;ABM82756;ABM85849;ABY87532;AGC09591;BAB14923;BAG37940;BAG52262;CAA44664;CAG29359;CAG46740;EAW89270;EAW89271;EAW89272;NP_002077;NP_987102;P62993 Hs.444356 1730223;1770622;2110895;2179597;5015619;5037552;7186426 D11S3114;D17S820E;D17S853E;D8S2279;RH16251;RH17761 ASH;EGFRBP-GRB2;Grb3-3;HT027;MST084;MSTP084;NCKAP2 OTTHUMP00000166095;OTTHUMP00000166096;OTTHUMP00000166097;OTTHUMP00000166098;SH2/SH3 adapter GRB2;abundant SRC homology;adapter protein GRB2;epidermal growth factor receptor-binding protein GRB2;growth factor receptor bound protein 2;growth factor receptor-bound protein 3 2289580;2289581;2289583 BW460_H;BW461_H;BW462_H APPROVED protein-coding ENSG00000177885 HGNC:4566 00150 108355 REVIEWED 732446 GRIA2 glutamate receptor, ionotropic, AMPA 2 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q32.1 155484938 155630358 + 158141736 158287227 + 157220584 157366075 + 737715;1580863;6480464;6484113;6907045;8554872 7502080 10027300;10358037;10501226;10576550;10688364;10985351;11007883;11086992;11140673;11466413;11860506;11891216;11931740;12058067;12062022;12125045;12130635;12477932;12573530;12694394;12805550;12859334;1311100;1319477;14630051;14687553;14730302;14985749;15006707;15071096;15144856;15145077;15342556;15489334;15858065;16045445;16055064;16215279;16344560;16724110;16990550;1699275;1717158;17409242;17942280;18163426;18311135;18403631;18976975;19004011;19086053;19102704;19156168;19448189;19558602;19651138;19933774;20347265;20398908;20409611;20468064;21173224;21221849;21383172;21397006;21843653;21856433;21948504;21988832;22057216;22094384;22122651;22366356;22644307;23475111;23595422;23613500;24512576;24550387;24623784;24652293;24749734;7523595;7545935;7919190;8003671;8269514;8288598;8420792;8848293;9481670;9648857;9697855;9768844 2891 D6R9Z0;D6RBV7;D6RDX5;D6REK8;D6RFM6;F8W7L6;H0Y972;P42262 AB209567;ABBA01070190;ABBA01070191;ABBA01070192;ABBA01070193;AC079233;AC112240;AF201343;AK294458;AK308775;AK309067;AL708924;AL832605;AMYH02010359;BC010574;BC028736;BP202382;BP202686;CH471056;DA228330;DA810082;FJ460423;FJ460424;FJ460425;FJ460426;FJ460427;FJ460428;FJ460429;FJ460430;FJ460431;FJ460432;L20814;NM_000826;NM_001083619;NM_001083620;X64829;X64830 AAA58631;AAF23955;AAH10574;AAH28736;ACJ74177;ACJ74178;ACJ74179;ACJ74180;ACJ74181;ACJ74182;ACJ74183;ACJ74184;ACJ74185;ACJ74186;BAD92804;BAH11774;EAX04865;EAX04866;EAX04867;EAX04868;EAX04869;EAX04870;EAX04871;NP_000817;NP_001077088;NP_001077089;P42262 Hs.32763 1662910;1685193;1686038;1752537;1778736;1788610;2116313 BB085555;D4S2322;D4S2841;RH25939;SHGC-106423;SHGC-30802;SHGC-67298 GLUR2;GLURB;GluA2;GluR-K2;HBGR2;gluR-2;gluR-B AMPA-selective glutamate receptor 2;OTTHUMP00000165322;OTTHUMP00000165323;OTTHUMP00000165324;OTTHUMP00000220942;OTTHUMP00000220943;glutamate receptor 2;glutamate receptor, ionotropic, 2 APPROVED protein-coding ENSG00000120251 HGNC:4572 04726 138247 REVIEWED 731547 GRIA1 glutamate receptor, ionotropic, AMPA 1 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 148945616 149268929 + 152870084 153193429 + 153490524 153813869 + 1580863;704404;4107070;4108489;4107726;2325963;2325284;4107069;4107719;2326034;6480464;6484113;6907045;7240704;8554872 18237558;19154779;19450629;19660546;19666089;19914343;20398734;20408958;22334212 10023812;10358037;10364548;10461883;10575214;10751563;10896157;11050113;11140673;11418862;11567040;11751897;11891216;11916847;12125045;12172541;12368290;12477932;12573530;12603841;12609872;12888558;12933808;1311100;1319477;1320959;14610080;14614461;15144856;15145077;15489334;15673434;15858065;15866042;16055064;16526023;1652753;17208968;17409242;17483093;17545169;18305116;18311135;18317690;18444252;18484081;18957620;19004011;19086053;19156168;19217372;19260139;19295509;19536293;19773551;19805317;20237279;20379614;20398908;20468064;20579352;20592726;20837486;20859245;21037582;21116212;21148011;21156788;21186356;21338354;21658281;21697386;21782286;21843653;21846932;21856433;22057216;22094384;22122651;23053966;23110111;23223299;23251661;23475111;23504989;23974872;24452473;24652293;7877986;7919190;8163463;8288598;8420792;8663994;9069287;9407043;9466455;9481670;9648857;9677374;9808458 2890 B7Z1W1;P42261;Q59GL5 AB209094;ABBA01026242;ABBA01026243;ABBA01026244;AC010613;AC025156;AC091960;AC091962;AK289565;AK294011;AK294773;AK295039;AK295184;AK295827;AK310189;AK315934;AL120214;AMYH02012493;AMYH02012494;AMYH02012495;AMYH02012496;BC111734;CH471062;DC335107;FJ947077;FJ947078;M64752;M81886;NM_000827;NM_001114183;NM_001258019;NM_001258020;NM_001258021;NM_001258022;NM_001258023;NR_047578;X58633;XR_427776;Z70220 AAA58395;AAA58613;AAI11735;ACR45954;ACR45955;BAD92331;BAF82254;BAH11647;BAH11879;BAH11956;BAH12004;BAH12192;BAH14305;CAA41491;EAW61649;EAW61650;EAW61651;NP_000818;NP_001107655;NP_001244948;NP_001244949;NP_001244950;NP_001244951;NP_001244952;P42261 Hs.519693;Hs.737709 1338157;1341593;1680224;1682433;1714525;1749563;1752255;1756641;1766255;1781188;1797670;2116411;2165425;2165427;2166233;2171281;2180044;5114286;7183712 A001Y15;D5S1978;D5S2007;G15853;G19777;GRIA1;GRIA1_1985;RH119775;RH15881;RH26210;RH36674;RH45466;SHGC-106132;SHGC-111262;SHGC-143689;SHGC-149610;STS-M64752;WI-18998 AMPA 1;GLUH1;GLUR1;GluA1;HBGR1;MGC133252;gluR-1;gluR-A;gluR-K1 AMPA-selective glutamate receptor 1;GLURA;OTTHUMP00000160643;OTTHUMP00000165781;OTTHUMP00000224241;OTTHUMP00000224242;OTTHUMP00000224243;glutamate receptor 1;glutamate receptor, ionotropic, ampa1 (alpha 1) APPROVED protein-coding ENSG00000155511 HGNC:4571 00695 138248 REVIEWED 6767246 GRID1-AS1 GRID1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 10 10 10 81332928 81362415 + 87337488 87366972 + 85577731 85607215 + 8554872 14702039 100507470 ABBA01033648;ABBA01033649;AC022028;AI223409;AK097655;AMYH02023469;NR_038986 Hs.585483 APPROVED ncrna HGNC:44131 VALIDATED 1318860 GRHPR glyoxylate reductase/hydroxypyruvate reductase This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008] 9 9 9 q12 37355941 37370220 + 37422693 37436990 + 37422696 37436993 + 1599318;1580863;6480464;6907045;7240710;8554872;8699517 10484776 10524214;10679197;11030416;11076863;11256614;12477932;14702039;15231747;15327387;15489334;15489336;15956068;16381901;16756993;17510093;19056867;19296982;20301742;21139048;21906983;21963094;21988832;22939629;22990118;23486161;23599041;24250222 9380 Q5T946;Q9H636;Q9UBQ7;U3KQ56 ABBA01050396;ABBA01050397;AF113215;AF113251;AF134895;AF146018;AF146689;AK024386;AK025978;AK026287;AK026752;AK307325;AK307902;AK315690;AL158155;AMYH02019496;BC000605;BC003131;BC088360;CH471071;NG_008135;NM_012203;XM_005251631 AAD45886;AAD46517;AAD54066;AAF00111;AAG39286;AAH00605;AAH88360;BAB15430;BAG38053;CAL38281;CAL38505;EAW58283;EAW58284;EAW58285;EAW58286;NP_036335;Q9UBQ7;XP_005251688 Hs.155742 1646716;1654884;1710966;2177776;5022578 D1S1423;RH35879;RH45280;RH45369;SHGC-84462 GLXR;GLYD;PH2 OTTHUMP00000021379;OTTHUMP00000021380;glycerate-2-dehydrogenase APPROVED protein-coding ENSG00000137106 HGNC:4570 05052 260000;604296 REVIEWED 737336 GRIA3 glutamate receptor, ionotropic, AMPA 3 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008] X X X q25 122704041 123010712 + 122317996 122624766 + 123184243 123490915 + 1580863;6480464;6907045;7240710;8554872;8699517 10027300;10602120;10644433;10688364;11160179;11725645;11891216;11931740;12125045;12172541;12477932;12682273;1319477;14663150;14687553;15144856;15145077;15772651;16055064;16344560;16368877;16990550;1709304;17202328;17409242;17568425;17989220;18163426;18311135;18593792;19004011;19086053;19156168;19217372;19295509;19449417;19548263;19736351;19933774;19945495;20564826;20579352;20689760;20859245;21966062;22429480;23149219;23595422;23772601;24561123;24652293;7918660;8036512;8951883;9481670;9648857;9697855;9768844;9892356 2892 B7Z4C0;P42263;Q17R51;Q5XKG2 ABBA01036314;ABBA01036315;ABBA01036316;ABBA01036317;ABBA01036318;ABBA01036319;ABBA01036320;ABBA01036321;ABBA01036322;ABBA01036323;ABBA01036324;ABBA01036325;ABBA01036326;ABBA01036327;ABBA01036328;ABBA01036329;ABBA01036330;ABBA01036331;ABBA01036332;ABBA01036333;ABBA01036334;ABBA01036335;ABBA01036336;ABBA01036337;ABBA01036338;ABBA01036339;AF159277;AF166365;AF167332;AF201349;AK297136;AL035426;AL356213;AL590139;AMYH02040397;AMYH02040398;AMYH02040399;AMYH02040400;AW166130;BC032004;BC117464;BE504553;BY799542;CH471107;DA158269;DA179917;DA180344;DA191279;DB505790;KF459328;KF459331;NG_009377;NM_000828;NM_001256743;NM_007325;U10301;U10302;Z82899;Z83848 AAA67922;AAA67923;AAF23961;AAF61847;AAF61848;AAF97857;AAF97858;AAF97859;AAH32004;AAI17465;ADR83410;BAH12506;EAX11865;EAX11866;EAX11867;NP_000819;NP_001243672;NP_015564;P42263 Hs.377070 1340699;1341113;1667257;1667482;1668760;1679910;1687502;1691618;1691668;1691674;1702176;1702298;1702466;1702690;1703060;1718941;1748215;1848550;1849955;1851299;1853127;2131989;2137926;2149230;2153720;2178684;5017909 AFM280vf5;AL008897;AL008898;AL008928;AL032579;AL032602;AL032603;DXS1212;DXS1353;DXS7322;DXS7329;DXS7332;DXS7334;DXS7335;DXS7869;DXS7912;DXS7913;DXS7921;DXS8280;DXS9909;G65742;GRIA3;RH123177;RH80476;RH91805;SHGC-57682;WI-21212 GLUR-C;GLUR-K3;GLUR3;GLURC;GluA3;MRX94;dJ1171F9.1;gluR-3 AMPA-selective glutamate receptor 3;OTTHUMP00000024261;OTTHUMP00000024262;glutamate receptor 3;glutamate receptor C;glutamate receptor ionotropic, AMPA 3;glutamate receptor subunit 3;glutamate receptor, ionotrophic, AMPA 3;glutamate receptor, ionotropic, ampa3 (alpha 3) APPROVED protein-coding ENSG00000125675 HGNC:4573 02378 300699;305915 REVIEWED 1345419 GRIFIN galectin-related inter-fiber protein ENCODES a protein that exhibits carbohydrate binding (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); ammonium chloride (ortholog); carbonyl sulfide (ortholog) 7 7 7 p22.3 2484120 2485839 - 2514772 2516489 - 2475137 2476855 - 70755;6480464 9786891 12690205;12853948;15146197;17999360;18087242;19296714 402635 A4D1Z8 ABBA01039374;AC004840;AMYH02015074;AMYH02015075;CH236953;CN281639;KF459637;NM_001291784 A4D1Z8;EAL23956;NP_001278713 1339057;1696456;7187472 D7S1532;SHGC-79769 putative grifin protein-coding HGNC:4577 VALIDATED 1352884 GRIK1-AS1 GRIK1 antisense RNA 1 21 21 21 q22.11 16303627 16319459 + 31120494 31136325 + 29748175 29764006 + 11329013;12036298 642976 ABBA01057260;AF107258;AMYH02037697;AP000237;AW150267;AY077697;BG187681;HG511713;HG511714;HG511715;HG511716;NR_027021 AAL82537 Hs.473554 C21orf9;GRIK1-AS;GRIK1AS;NCRNA00110 APPROVED ncrna HGNC:16458 PREDICTED 1344582 GRIK1-AS2 GRIK1 antisense RNA 2 21 21 21 q22.11 16151475 16186190 + 30968360 31003067 + 29596040 29630747 + 10830953;12036298 100379661 ABBA01057259;AMYH02037697;AP000238;AP000239;AY081145;NR_033368 AAL91139 Hs.659368 1742695;1742699;1759913;1773921;1773923;2179476 D5S1704;GDB:201820;GDB:201822;SHGC-170304;SHGC-52073;STS-N32079 C21orf41;NCRNA00258 APPROVED ncrna ENSG00000156273 HGNC:1282 PREDICTED 68527 GRID2 glutamate receptor, ionotropic, delta 2 The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014] 4 4 4 q22 90516237 91989747 + 93225453 94695707 + 92304302 93774556 + 704404;1580863;6480464;6907045;8554872 10234023;10748123;11826110;11829466;12372286;12477932;12573530;12589829;14572453;17027646;18256267;20379614;20487506;20859245;21368048;23251661;23512105;23611888;24078737;24357660;7506541;9465309;9847074 2895 D6R976;D6R9W8;H0YA12;O43424 AB209318;ABBA01063594;ABBA01063595;ABBA01063596;ABBA01063597;ABBA01063598;ABBA01063599;ABBA01063600;ABBA01063601;ABBA01063602;ABBA01063603;ABBA01063604;ABBA01063605;ABBA01063606;ABBA01063607;ABBA01063608;ABBA01063609;AC020699;AC022317;AC093596;AC093733;AC095059;AC096769;AC104077;AC105315;AC105452;AC108158;AC110800;AC112695;AC115111;AC115537;AF009014;AK302355;AK308611;AK310262;AMYH02009738;AMYH02009739;AMYH02009740;AMYH02009741;AMYH02009742;AMYH02009743;AMYH02009744;AMYH02009745;AMYH02009746;AMYH02009747;AMYH02009748;AMYH02009749;AMYH02009750;AMYH02009751;AMYH02009752;AW295056;BC099652;BC099653;BC099654;CH471057;KF457789;NG_034113;NM_001286838;NM_001510;XM_006714195 AAC39579;AAH99652;AAH99653;AAH99654;AAY40921;AAY40938;AAY41014;AAY41015;BAD92555;BAG63681;EAX06044;NP_001273767;NP_001501;O43424;XP_006714258 Hs.162727;Hs.480281 1336429;1340403;1666384;1673516;1677444;1695832;1695854;1696074;1710302;1714303;1715799;1720537;1729001;1731455;1731467;1733528;1737539;1737541;1748669;1750485;1751527;1753979;1760097;1763041;1780078;1852261;1855497;2108781;2116958;2122603;2134307;2141476;2152095;2161937;2164219;2166369;2169038;2175796;2176754;2178062;2179346;2184495;2184598;2187200;5019859 D4S1135;D4S2351;D4S2364;D4S2404;D4S2667;D4S2692;D4S2693;D4S312;D4S3224;D4S3264;D4S477;D4S542;D4S650;D4S799;D4S965;G09726;G16769;G34300;G54560;G59222;GRID2_2962;Grid2;RH119596;RH119932;RH92539;SHGC-105322;SHGC-107742;SHGC-110334;SHGC-111791;SHGC-132008;SHGC-146786;SHGC-154327;SHGC-24441;SHGC-50210;SHGC-50409;SHGC-51119;SHGC-51584;SHGC-67661;SHGC-78763;SHGC-78799;SHGC-79101;SHGC-85257;SHGC4-1553;STS-Z70764;WI-13806 GluD2;MGC117022;MGC117023;MGC117024 GluR-delta-2;OTTHUMP00000161600;OTTHUMP00000219270;gluR delta-2 subunit;glutamate receptor delta-2 subunit;glutamate receptor ionotropic, delta-2 APPROVED protein-coding ENSG00000152208 HGNC:4576 06781 602368 REVIEWED 733691 GRIK2 glutamate receptor, ionotropic, kainate 2 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive mental retardation. [provided by RefSeq, Jul 2008] 6 6 6 q16.3 102490982 103163448 + 101841584 102517958 + 101393708 102070083 + 1358638;704404;1580863;6480464;2316528;6907045;7240710;8699517;8554872 10522893;17639597 10358037;11276111;11279111;11675011;11744724;11891216;11920157;12070168;12151522;12467946;12477932;12573530;12597860;12821179;12954862;14567698;15094479;15305151;15537878;16221857;16847693;16959037;17167233;17379418;17428563;17712621;17847003;18289788;18519826;18593792;18658129;18664604;18690046;18692513;19086053;19225180;19260141;19268276;19295509;19342380;19617541;19920140;20230879;20370803;20379614;20442744;20859245;20863077;21348951;21557188;21912186;21988832;22429480;22771793;22797727;22889921;23037145;23251661;23362303;23400781;23660601;23713029;23861400;7523595;7536611;7675232;7696618;8034316;8094892;8163463;8188697;8288598;8618850;8889548;9099808;9108071;9466455;9651532;9808460 2898 A8K0H7;F8WEZ8;G3XAD3;H7BZX7;H7C2P5;Q13002;Q8IY40 ABBA01014456;ABBA01014457;ABBA01014458;ABBA01014459;ABBA01014460;AI087397;AJ252246;AJ301608;AJ301609;AJ301610;AK289542;AK291965;AK303721;AL109919;AL355532;AL357058;AMYH02014198;AMYH02014199;AMYH02014200;AMYH02014201;AMYH02014202;AP002528;AP002529;AP002530;AW949408;BC037954;BC063814;BM722353;BQ717946;CH471051;HM149335;HM149336;HM149337;HM149338;HM149339;KC877163;KC877166;KC877169;KC877171;KC877198;KF495738;KF495743;KF510933;NG_009224;NM_001166247;NM_021956;NM_175768;S75105;U16126;XM_005266945;XM_005266946;XM_006715465 AAC50420;AAH37954;AAH63814;ADH93569;ADH93570;ADH93571;ADH93572;ADH93573;ADZ15908;BAF82231;BAF84654;BAH14032;CAC25104;CAC67485;CAC67486;CAC67487;CAC81020;EAW48446;EAW48447;EAW48448;NP_001159719;NP_068775;NP_786944;Q13002;XP_005267002;XP_005267003;XP_006715528 Hs.98262 1334648;1334651;1335966;1337037;1337325;1338340;1339663;1340078;1669583;1690858;1694836;1714005;1718803;1719553;1723253;1743793;1747639;1763423;1785894;2113634;2145286;2178956;2184491;2217384;5020988;5022322;5037552;5117006;7185235;7186757;7187977 D11S2560;D22S958;D6S1028;D6S1219E;D6S1543;D6S1642;D6S1709;D6S283;D6S434;D6S449;D8S2279;G15813;G43669;G65520;GDB:373727;GRIK2_3094;RH119433;RH122313;RH123105;RH123509;RH46628;RH92163;SGC34572;SHGC-141507;SHGC-147136;STS-H15417;UniSTS:478947;contig_366814 EAA4;GLR6;GLUK6;GLUR6;GluK2;MGC74427;MRT6;bA487F5.1;gluR-6 OTTHUMP00000017949;OTTHUMP00000017950;OTTHUMP00000017951;excitatory amino acid receptor 4;glutamate receptor 6;glutamate receptor form A;glutamate receptor form B;glutamate receptor form C;glutamate receptor form D;glutamate receptor form E;glutamate receptor ionotropic, kainate 2;glutamate receptor, ionotropic kainate 2 APPROVED protein-coding ENSG00000164418 HGNC:4580 00692 138244;611092 REVIEWED 733821 GRIA4 glutamate receptor, ionotropic, AMPA 4 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008] 11 11 11 q22 102645046 103017070 + 105480800 105852819 + 105609994 105982092 + 1358642;1580863;6480464;6907045;8554872 12497607 10027300;10366608;10688364;11140673;11891216;12125045;12172541;12393905;12471040;12477932;12574408;12603841;1319477;15306133;15450689;15823042;16055064;16190873;16344560;17233759;17409242;18163426;18311135;18521090;19086053;19125103;19156168;19217372;19573479;20859245;22057216;22094384;22122651;23396134;23613500;24324551;24512576;24652293;7518497;7992055;8163463;8589990;8889548;9466455;9481670;9648857 2893 E9PJZ5;E9PQN1;E9PQY1;G3V164;H0YDL4;P48058;Q1WWK6 AB115416;AB209092;ABBA01039900;ABBA01039901;ABBA01039902;AK311193;AMYH02025512;AMYH02025513;AP000641;AP000673;AP000813;AP001023;AP001561;BC015199;BC035610;BC045546;BC114549;BC142654;BC146816;BC150209;BM675457;BM723114;CH471065;DA077870;DA391203;DB298333;DB305322;DB473702;DB548729;FJ947075;FJ947076;KC877459;KC877461;KF455491;KF455494;KF455495;KF510348;KF511108;NM_000829;NM_001077243;NM_001077244;NM_001112812;NR_046356;U16129;XM_005271518;XM_006718823 AAA95962;AAH45546;AAI14550;AAI42655;AAI46817;AAI50210;AAI67786;ACR45952;ACR45953;BAD23796;BAD92329;EAW67066;EAW67067;EAW67068;EAW67069;NP_000820;NP_001070711;NP_001070712;NP_001106283;P48058;XP_005271575;XP_006718886 Hs.503743 1299908;1341969;1645722;1647390;1648081;1650928;1652785;1654565;1662310;1685670;1689107;1690388;1696066;1704692;1720875;1723073;1732225;1736172;1737203;1737221;1752337;1755285;1771377;1787882;1789002;2113502;2128379;2128381;2165934;2173329;5106981;5127981;7186687 BZ904394;D11S1325;D11S1816;D11S2000;D11S2275E;D11S3070;D11S3084;D11S4039;D11S4621;G17587;G17613;G27433;G30957;G59265;G65580;RH11819;RH121888;RH12402;RH27781;RH91882;RH99092;SGC30893;SHGC-106294;SHGC-142178;SHGC-152865;SHGC-173555;SHGC-31826;SHGC-36942;SHGC-79000;SHGC-83229;WI-20616;WI-21644 GLUR4;GLUR4C;GLURD;GluA4;gluR-4;gluR-D AMPA-selective glutamate receptor 4;OTTHUMP00000232267;OTTHUMP00000232271;OTTHUMP00000232273;OTTHUMP00000232274;glutamate receptor 4;glutamate receptor ionotropic, AMPA 4;glutamate receptor, ionotrophic, AMPA 4;glutamate receptor, ionotropic, 4 APPROVED protein-coding ENSG00000152578 HGNC:4574 00694 138246 REVIEWED 731546 GRIK1 glutamate receptor, ionotropic, kainate 1 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 16092373 16495412 - 30909254 31312282 - 29536933 29939964 - 704404;1358334;1580863;1642476;1642498;1642496;6480464;6907045;8554872 10580501;11702055;12724156;9259378 10023812;10828597;10830953;11418862;11891216;11943148;12477932;12597860;14527949;15163799;15974569;16221857;17698324;17903305;18519826;18821565;19086053;19095219;19320626;19331489;19342380;19874574;19893199;19941835;20201926;20339536;20379614;20453000;20494980;20602751;20848601;20859245;20978832;21139048;22191429;22446040;22730074;22807686;22931243;23453885;23685007;24024966;24525690;7696618;8163463;8260617;8419920;8468067;8589992;9069287;9335499;9808458 2897 E7ENK3;E7EPY9;E7EPZ0;E9PD61;F5H1W5;F8W7X3;H7BYG7;P39086 AA404271;ABBA01057259;ABBA01057260;ABBA01057261;ABBA01057262;ABBA01057263;ABBA01057264;AF107257;AF107259;AJ249208;AK294353;AK296404;AMYH02037696;AMYH02037697;AMYH02037698;AP000091;AP000236;AP000237;AP000238;AP000239;BC028238;BC111793;CH471079;KF457187;KF457193;KF510532;KF511369;KF511371;KF511372;KF511373;L19058;NM_000830;NM_175611;U16125;XM_005260942;XM_005260943;XM_005260944;XM_006723991 AAA52568;AAA95961;AAD03059;AAD04931;AAI52728;AAI56976;BAA97452;BAH11742;BAH12343;CAC80546;EAX09906;EAX09907;EAX09908;EAX09909;EAX09910;NP_000821;NP_783300;P39086;XP_005260999;XP_005261000;XP_005261001;XP_006724054 Hs.664641 1696454;1709476;1717195;1720139;1729602;1730618;1734336;1734358;1734366;1742695;1742697;1742699;1751697;1759907;1759909;1759911;1759913;1773921;1773923;1784474;1784476;2111007;2132528;2136573;2151449;2164029;2178884;2179476;2219104;5110586;7184736 D21S1236E;D21S1685;D21S1699;D21S1703;D21S1845;D21S2054;D21S213;D21S300;D5S1704;GDB:201820;GDB:201821;GDB:201822;GRIK1_3151;L17771;RH119595;RH122011;RH123847;RH71358;SHGC-105746;SHGC-170155;SHGC-170157;SHGC-170298;SHGC-170300;SHGC-170302;SHGC-170304;SHGC-52073;SHGC-52133;SHGC-79762;SHGC-81790;STS-N32079 EAA3;EEA3;GLR5;GLUR5;GluK1;gluR-5 OTTHUMP00000096568;OTTHUMP00000096569;OTTHUMP00000096570;OTTHUMP00000096571;OTTHUMP00000096572;OTTHUMP00000096573;OTTHUMP00000096574;excitatory amino acid receptor 3;glutamate receptor 5;glutamate receptor ionotropic, kainate 1;glutamate receptor, ionotropic kainate 1 APPROVED protein-coding ENSG00000171189 HGNC:4579 00693 138245 REVIEWED 735713 GRIK3 glutamate receptor, ionotropic, kainate 3 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. It is not certain if the subunit encoded by this gene is subject to RNA editing as the other 2 family members (GRIK1 and GRIK2). A Ser310Ala polymorphism has been associated with schizophrenia, and there are conflicting reports of its association with the pathogenesis of delirium tremens in alcoholics. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 35537937 35776956 - 37261128 37499844 - 36795527 37034243 - 1580863;6480464;6907045;8554872 10737800;11124978;11891216;11943148;11986986;15094479;15897672;16314883;16325263;16356644;16958029;17213182;18423838;19022628;19086053;19125103;19221446;19320626;19342380;19921975;19995671;20052609;20379614;20859245;22232963;23006490;23894747;24449200;7719709;8128318;8163463;9144652;9466455 2899 Q13003 ABBA01023290;ABBA01023291;ABBA01023292;AC117945;AJ249210;AJ299451;AJ308525;AJ308526;AL355386;AL591883;AMYH02000791;AMYH02000792;AMYH02000793;AW898512;BG057125;BG818719;BI544689;BQ446793;CH471059;DR003075;DT217951;NG_011447;NM_000831;S69349;U16127;U16128 AAB30157;AAB60407;AAC50421;AAI56722;CAC40655;CAC40656;CAC40657;CAC44965;CAC80548;EAX07350;EAX07351;NP_000822;Q13003 Hs.128848 1335251;1336484;1653084;1693076;1699084;1720775;1733126;1739985;1756243;1781446;1795946;1852884;2124511;2145974;2146729;7185524 AL009961;AL010015;AL034266;D11S4066;D1S1444;D1S472;G15720;G59361;GRIK3_966;RH103118;RH79120;SHGC-112050;SHGC-143130;SHGC-31550;SHGC-74612 EAA5;GLR7;GLUR7;GluK3;GluR7a;gluR-7 OTTHUMP00000004360;OTTHUMP00000004361;dJ1090M5.1 (glutamate receptor, ionotropic, kainate 3 (GLUR7));excitatory amino acid receptor 5;glutamate receptor 7;glutamate receptor ionotropic, kainate 3;glutamate receptor, ionotropic kainate 3 APPROVED protein-coding ENSG00000163873 HGNC:4581 00691 138243 REVIEWED 1351156 GRID2IP glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008] 7 7 7 p22.1 6144125 6198795 + 6536409 6591067 - 6496778 6551436 - 6480464 11826110;12690205;14612983;16835239;17027646 392862 A4D2P6;C9J5F6;C9JNS8 ABBA01056492;ABBA01056493;ABBA01056494;AC072052;AMYH02015177;AMYH02015178;CH236963;KF458361;NM_001145118 A4D2P6;EAL23724;NP_001138590 Hs.512174 OTTHUMP00000208189;OTTHUMP00000208190;OTTHUMP00000208191;OTTHUMP00000208192;delphilin;glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1;glutamate receptor, ionotropic, delta 2-interacting protein 1 APPROVED protein-coding HGNC:18464 610639 VALIDATED 733741 GRIK4 glutamate receptor, ionotropic, kainate 4 This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] 11 11 11 q22.3 117690453 118016395 + 120382465 120859514 + 120511756 120988805 + 1580863;6480464;6907045;8554872 11334999;12477932;12954862;14617813;15782196;16325263;16344560;16819533;18289755;18824690;19086053;19125103;19328558;19342380;19384319;19924111;20110084;20125193;20201926;20379614;20859245;21215464;22052594;23728934;7527545;8263508;8288598 2900 A6H8K8;B2RAP6;Q16099;Q3C1X2 AB231709;ABBA01031313;ABBA01031314;ABBA01031315;ABBA01039649;ABBA01039650;ABBA01039651;ABBA01039652;ABBA01039653;ABBA01039654;ABBA01039655;ABBA01039656;AK292726;AK314284;AMYH02025678;AMYH02025679;AMYH02025680;AMYH02025681;AMYH02025682;AP000796;AP001929;AP002348;AP004147;AW016926;BC146652;BC150173;CH471065;DA740816;NM_001282470;NM_001282473;NM_014619;S67803 AAB29311;AAI46653;AAI50174;BAE46875;BAF85415;BAG36943;EAW67511;EAW67512;NP_001269399;NP_001269402;NP_055434;Q16099 Hs.538738;Hs.568901 1335070;1337255;1687355;1688205;1731557;1731563;1737141;1737883;1782268;2123279;2146735;5021980;7187490 D11S1263;D11S1265;D11S1774;D11S2999;D11S3484;D11S4460;D11S925;RH27747;RH27748;SHGC-112055;WI-9274;contig_77245 EAA1;GRIK;GluK4;KA1 OTTHUMP00000045951;OTTHUMP00000231881;excitatory amino acid receptor 1;glutamate receptor KA-1;glutamate receptor KA1;glutamate receptor ionotropic, kainate 4;glutamate receptor, ionotropic kainate 4 APPROVED protein-coding ENSG00000149403 HGNC:4582 02613 600282 REVIEWED 736076 GRIN2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 17 17 17 q25.1 69431345 69449257 - 72838162 72856966 - 74842023 74860843 - 704404;1580863;6480464;6907045 10197777;10448428;10479680;10555109;10648872;10943672;11278603;11483648;11606043;11854440;11937501;12082569;12414113;12477932;12775422;12815021;1350383;14644469;15123239;15287897;15494561;15749123;15920498;16481105;16489129;16606616;16697675;17360663;18029348;18444252;19020013;19036954;19156168;19477150;19526283;19874574;20976280;20981015;21152063;21491143;21670103;21807990;21919190;21948112;22114277;22197913;22245680;22343826;22552781;22833210;22940423;23267846;23665428;24086760;7569905;7695237;8267632;8563977;8581564;8665664;8724036;8804048;8821747;8822372;8845955;8889548;8955056;9037519;9480759;9647694;9651389;9694864;9745929;9798920 2905 H0Y2V8;O15398;Q14957;Q8IW23 AB208799;ABBA01028826;ABBA01028827;AC068874;AC087651;AMYH02033981;BC031077;BC041128;BC059384;BC140801;BC144586;BM686026;CH471099;L76224;NM_000835;NM_001278553;NR_103735;U77782;XM_006721845;XM_006721846;XM_006721847;XM_006721848 AAA88096;AAB71624;AAH31077;AAH41128;AAH59384;AAI40802;BAD92036;EAW89202;EAW89203;EAW89204;NP_000826;NP_001265482;Q14957;XP_006721908;XP_006721909;XP_006721910;XP_006721911 Hs.436980 GluN2C;NMDAR2C;NR2C N-methyl D-aspartate receptor subtype 2C;N-methyl-D-aspartate receptor subunit 2C;OTTHUMP00000041930;glutamate [NMDA] receptor subunit epsilon-3;glutamate receptor ionotropic, NMDA 2C;glutamate receptor, ionotropic, nmda2c APPROVED protein-coding ENSG00000161509 HGNC:4587 00699 138254 REVIEWED 731784 GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 110548072 110577040 + 140033609 140063214 + 137139157 137168762 + 727540;704404;1580863;1642190;1642372;2326049;2325954;6480464;6907045;7240705;8699517;7240710;8554872 1350383;14573320;16477151;19144756;19761817;22717267 10049997;10197777;10373510;10448428;10480938;10518580;10555109;10749211;10862698;11109007;11136979;11140673;11140838;11160393;11279200;11483648;11506858;11588171;11606043;11754835;11803122;11937501;12008020;12068077;12082569;12191494;12210277;12363394;12391275;12408866;12414113;12610658;12646920;12679240;12707933;12746393;12753088;12775422;12815021;12893641;14575242;14622581;14644469;14732708;14970236;14973229;15030408;15030493;15069201;15265015;15338240;15448144;15531111;15564900;15635650;15721239;15749123;15841096;15888440;16140270;16189506;16272960;16289038;16332682;16476413;16481105;16489129;16697675;16767099;16969270;17047094;17255096;17284422;17360663;17506933;17728671;17997397;18068304;18182392;18296432;18445116;18606955;18644839;18792810;18990687;18991843;19020013;19036954;19095845;19156168;19328558;19422642;19488045;19526283;19602553;19635471;19784770;19874574;20007519;20097831;20237496;20414717;20438806;20468064;20634195;20722663;20848605;20974228;21491143;21670103;21753020;21948112;22040728;22114277;22196339;22300668;22354721;22383529;22448134;22486492;22552781;22711533;22726567;22833210;22889411;22937865;22940423;22952988;23267846;23271275;23665428;23723305;23726511;23840674;23880023;23933820;24086760;24156266;24227730;7622053;7679115;7681588;7685113;7695237;7926821;8139656;8316301;8406025;8406459;8563977;8581564;8615909;8625412;8665664;8724036;8768735;8783260;8804048;8821747;8822372;8845955;8889548;8955056;9009191;9030583;9231706;9425014;9481670;9482789;9502803;9620802;9651389;9670010;9728925;9745929;9835392;9952395 2902 A2AVK2;Q05586;Q59GW0;Q5VSF9 AB208918;AB208999;ABBA01022747;AF015730;AF015731;AL929554;AMYH02021924;AMYH02021925;BU728516;CH471090;D13515;L05666;L13266;L13267;L13268;NG_011507;NM_000832;NM_001185090;NM_001185091;NM_007327;NM_021569;S57708;U08106;U08107;XM_005266071;XM_005266072;XM_005266073 AAA21180;AAA36198;AAA62111;AAA62112;AAB25917;AAB59360;AAB59361;AAB67723;AAB67724;AAI56098;AAI56962;BAA02732;BAD92155;BAD92236;EAW88350;EAW88351;EAW88352;EAW88353;EAW88354;EAW88355;EAW88356;EAW88357;EAW88358;EAW88359;EAW88360;NP_000823;NP_001172019;NP_001172020;NP_015566;NP_067544;Q05586;XP_005266128;XP_005266129;XP_005266130 Hs.558334 5117228 GDB:451867 GluN1;MRD8;NMD-R1;NMDA1;NMDAR1;NR1 N-methyl-D-aspartate receptor channel, subunit zeta-1;N-methyl-D-aspartate receptor subunit NR1;OTTHUMP00000022673;OTTHUMP00000022674;OTTHUMP00000022675;OTTHUMP00000022676;OTTHUMP00000022677;OTTHUMP00000022678;OTTHUMP00000022679;OTTHUMP00000165923;glutamate [NMDA] receptor subunit zeta 1;glutamate [NMDA] receptor subunit zeta-1;glutamate receptor ionotropic, NMDA 1 APPROVED protein-coding ENSG00000176884 HGNC:4584 15926 138249;614254 REVIEWED 732269 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 16 16 16 p13.2 10014039 10444548 - 9847265 10276611 - 9753408 10182754 - 1358644;734740;704404;1580863;1642190;1642204;1642198;1642207;2326049;2325954;2325284;4107070;2325867;2325949;2325963;6480464;6480428;6484113;6907045;7240705;8699517;7240710;8554872 12809987;14502288;16477151;16904707;17011703;17655746;18237558;18534564;19144756;19660546;19761817;19837828;20350575;20398734;22717267 10195142;10197777;10336672;10373510;10448428;10458595;10479680;10480938;10555109;10648730;10748123;10846184;10862698;10884433;11104776;11222640;11279200;11478920;11483648;11606043;11675505;11803122;11854440;11937501;11985816;12008020;12068077;12070168;12082569;12127670;12147342;12191494;12391275;12414113;12419528;12477932;12531901;12576483;12697264;12724619;12775422;12815021;12890763;12893641;12923170;12932824;12933808;12956718;1350383;14622581;14644469;14699423;14702039;14732708;14966475;15254094;15681389;15742215;15749123;15774266;15830322;15888440;16266783;16476413;16481105;16489129;16637659;16697675;16990796;17018562;17081983;17105731;17255096;17360663;17433503;17519952;17569088;17922030;17942280;17997397;18029348;18178157;18445116;18570704;18606955;18990687;18991843;19020013;19036954;19058789;19086053;19088076;19156168;19268276;19352218;19526283;19834457;19874574;20041166;20070378;20094923;20148871;20379614;20398908;20448061;20468064;20677014;20848605;20890276;21152063;21371516;21491143;21499247;21507155;21670103;21876681;21883175;21906983;21948112;22004137;22114277;22142193;22486492;22552781;22833210;22851457;22940423;23267846;23271275;23400010;23453885;23639431;23665428;23693003;23847085;23933818;23933819;23933820;23940648;24086760;24125812;24156266;24227730;24372385;7524031;7569905;7695237;7816096;8061049;8139656;8163463;8267632;8563977;8581564;8601796;8615909;8665664;8724036;8768735;8804048;8821747;8822372;8845955;8955056;9231720;9278515;9286858;9480759;9481670;9647694;9651389;9670010;9745929;9892651 2903 B4DII7;F5GZ52;Q12879;Q547U9;Q59EW6 AB209695;ABBA01006782;ABBA01019754;ABBA01019755;ABBA01019756;AC006531;AC007218;AC022168;AC026423;AC133565;AF443868;AK124698;AK295620;AK308862;AMYH02031429;AMYH02031430;AMYH02031431;AMYH02031432;AMYH02031433;AMYH02031434;AMYH02031435;AMYH02031436;BC117131;BC143273;CH471112;CR749843;HG507717;KF456168;NG_011812;NM_000833;NM_001134407;NM_001134408;R43097;U07199;U09002;U90277;XM_005255267;XM_005255268 AAB49992;AAB60343;AAI17132;AAI43274;AAN75825;ADR83436;BAD92932;BAG58499;EAW85187;NP_000824;NP_001127879;NP_001127880;Q12879;XP_005255324;XP_005255325 Hs.411472 1298187;1337715;1340192;1648065;1659081;1674727;1674910;1678881;1679634;1704542;1729003;1736604;1736622;1749885;1766335;1795948;1852123;2120034;2132973;2146305;2147544;2164051;2164684;2172467;2179356;7183777;7184445 D16S2596E;D16S2599E;D16S2608E;D16S2952;D16S3064;D16S3126;D16S3187;D16S3229;D16S407;D16S732;G01525;G10721;G17910;GRIN2A_118;Grin2a;RH15627;RH15641;RH69953;RH91712;RH98186;SHGC-111612;SHGC-12942;SHGC-149675;SHGC-18386;SHGC-83077 EPND;FESD;GluN2A;LKS;NMDAR2A;NR2A;RP11-297M9.2;hNR2A N-methyl D-aspartate receptor subtype 2A;N-methyl-D-aspartate receptor channel, subunit epsilon-1;N-methyl-D-aspartate receptor subunit 2A;NMDA receptor subtype 2A;OTTHUMP00000160135;OTTHUMP00000174531;glutamate [NMDA] receptor subunit epsilon-1;glutamate receptor ionotropic, NMDA 2A APPROVED protein-coding ENSG00000183454 HGNC:4585 00698 138253;245570 REVIEWED 730907 GRIK5 glutamate receptor, ionotropic, kainate 5 This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 19 19 19 q13.2 39302092 39369575 - 42502468 42574278 - 41998316 42070210 - 734533;1358334;1580863;2316538;625595;5147998;6480464;2316528;6907045;8554872 11226670;12080343;17639597;7527545;9259378;9848088 11279111;12477932;12573530;1321949;14511640;15254951;16169070;16325263;18247129;19086053;19125103;19342380;21771265;23288040;8288598;9039653;9099808;9466455;9808460 2901 M0QXF6;Q16478 ABBA01040828;ABBA01040829;ABBA01040830;ABBA01040831;ABBA01040832;ABBA01040833;AC010616;AC020946;AC022515;AJ249209;AMYH02036138;AMYH02036139;BC037358;BC052975;BC131717;BM152516;CA432656;CH471126;KC877730;NM_001301030;NM_002088;S40369;XM_005258821;XM_005258822;XM_006723169;XM_006723170;XR_243925 AAB22591;AAI68375;CAC80547;EAW57090;EAW57091;NP_001287959;NP_002079;Q16478;XP_005258878;XP_005258879;XP_006723232;XP_006723233 Hs.367799 1758349;2108783;2126709 GRIK5_3042;SHGC-148130;UniSTS:496047 EAA2;GRIK2;GluK5;KA2 excitatory amino acid receptor 2;glutamate receptor KA-2;glutamate receptor KA2;glutamate receptor ionotropic, kainate 5;glutamate receptor, ionotropic kainate 5 APPROVED protein-coding ENSG00000105737 HGNC:4583 02614 600283 REVIEWED 68523 GRID1 glutamate receptor, ionotropic, delta 1 This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009] 10 10 10 q22 81354751 82123191 - 87359312 88126250 - 85599555 86366493 - 1580863;6480464;8554872 10234023;10574462;11829466;12372286;12477932;1372507;15489334;16380905;17490860;19056867;19346103;19584346;20379614;22699663;23017809;23180869;23362303;23568457;23726511;24121790;9828146 2894 A8KAN9;B7Z7L0;G3V186;Q9ULK0 AB033046;ABBA01033648;ABBA01033649;ABBA01033650;ABBA01033651;ABBA01033652;ABBA01033653;ABBA01033654;ABBA01033655;ABBA01033656;ABBA01033657;ABBA01033658;ABBA01033659;ABBA01033660;ABBA01033661;ABBA01033662;ABBA01033663;ABBA01033664;AC022028;AC073162;AC079955;AK127168;AK293104;AK302192;AL451059;AL596135;AL683834;AL732479;AL844892;AMYH02023469;AMYH02023470;AMYH02023471;AMYH02023472;AMYH02023473;AMYH02023474;AMYH02023475;AMYH02023476;BC039263;BC047948;CH471142;DR001156;NG_011875;NM_017551;XM_006717804 AAH39263;BAA86534;BAF85793;BAG54447;BAH13646;EAW80338;EAW80339;EAW80340;EAW80341;NP_060021;Q9ULK0;XP_006717867 Hs.530653 1334550;1342194;1660124;1663495;1665161;1708328;1718903;1748907;1749731;1758269;1758655;1761001;1763729;1764443;1764507;1764789;1766937;1772451;1782014;2108779;2136052;2156026;2217062 BAZ1B_3920;D10S1579;D10S1698;D10S1769;D10S2224;G17462;G20570;G28626;GRID1_3289.2;RH123157;SHGC-110567;SHGC-111404;SHGC-144945;SHGC-147402;SHGC-147860;SHGC-148036;SHGC-148109;SHGC-148359;SHGC-148651;SHGC-149062;SHGC-152438;SHGC-81562;UniSTS:37720 GluD1;KIAA1220 OTTHUMP00000020002;OTTHUMP00000020003;gluR delta-1 subunit;glutamate receptor delta-1 subunit;glutamate receptor ionotropic, delta-1 APPROVED protein-coding ENSG00000182771 HGNC:4575 17078 610659 REVIEWED 731079 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA receptor channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of three different subunits: NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The NR2 subunit acts as the agonist binding site for glutamate. This receptor is the predominant excitatory neurotransmitter receptor in the mammalian brain. [provided by RefSeq, Jul 2008] 12 12 12 p12 18858978 19277660 - 13713684 14133022 - 13560750 13980088 - 727540;704404;1580863;1642197;1642200;1642201;1642204;1642207;1642190;1642372;4107024;2325954;2325284;2326049;4107020;2325867;2326032;2326034;4107025;6480464;6484113;6907045;7240705;7240704;8699517;7240710;8554872 1350383;14573320;16477151;16549338;16904707;16911840;17224684;17655746;18237558;19144756;19154779;19208366;19761817;20056114;20079352;20237303;20350575;22334212;22717267 10197777;10341223;10373510;10381539;10448428;10458595;10479680;10480938;10485705;10488080;10555109;10620012;10748157;10846184;10884433;11024032;11029657;11278603;11306676;11317224;11459059;11483648;11483655;11588171;11606043;11679592;11723117;11799243;11807413;11844890;11937501;11956967;11979061;11997254;12082569;12127670;12147342;12191494;12391275;12414113;12476325;12477932;12524444;12531901;12556902;12650977;12738960;12753378;12775422;12815021;12824739;12857875;12890763;12893641;14622581;14644469;14662797;15030493;15083261;15180478;15211626;15254094;15489334;15542698;15673434;15721239;15742215;15749123;15812607;15841096;15866054;16120608;16266783;16289038;16380905;16436603;16481105;16489129;16697675;16766085;16870468;16990796;17010153;17047094;17255096;17360663;17506933;17506987;17569088;17620329;17669510;17942280;17962190;17997397;18007143;18068304;18303265;18445116;18583979;18606955;18836292;18976975;18983893;18991843;19005876;19011431;19020013;19036954;19086053;19088076;19095845;19156168;19167335;19192303;19268276;19279257;19324536;19328558;19336002;19350219;19367581;19453375;19523047;19526283;19562769;19591125;19605943;19726645;19734545;19784770;19874574;20175224;20197096;20201926;20347576;20379614;20399867;20421849;20427279;20438806;20464528;20468064;20537720;20537986;20848605;20859245;20882066;20890276;20939817;20945430;20957330;21116278;21491143;21597037;21639937;21670103;21704719;21749895;21753020;21782286;21789901;21827795;21919190;21948112;22114277;22116950;22142193;22326929;22433450;22479519;22484476;22552781;22578441;22610100;22610502;22711533;22742935;22832729;22833210;22833681;22850629;22936815;22940423;22986046;23160955;23201971;23229837;23267846;23271275;23377640;23648631;23660601;23665428;23840674;23918416;24086760;24114429;24156266;24272827;24490167;7569905;7695237;7959773;7999784;8139656;8163463;8563977;8581564;8601796;8615909;8665664;8724036;8768735;8780649;8804048;8821747;8822372;8845955;8940188;8955056;9009191;9231720;9278515;9326658;9427503;9481670;9547169;9581762;9620694;9647694;9651389;9670010;9745929;9806853 2904 Q13224;Q59HA9 AB208850;ABBA01067860;ABBA01067861;ABBA01067862;ABBA01067863;AC007397;AC007535;AC007784;AC007916;AMYH02026076;AMYH02026077;AMYH02026078;AMYH02026079;AMYH02026080;AMYH02026081;AMYH02026082;AMYH02026083;BC113618;BC113620;CH471094;KF455614;NG_031854;NM_000834;U11287;U28758;U28861;U28862;U88963;U90278;XM_005253351 AAA69919;AAA69920;AAA74930;AAB49993;AAB60368;AAD00659;AAI13619;AAI13621;BAD92087;EAW96311;NP_000825;Q13224;XP_005253408 Hs.654430 1696116;1716485;1722517;1725895;1736870;1757579;1767186;1774932;1795950;2113992;2114384;2124260;2148781;2158015;2167086;7184031 D12S1274;D12S1946;D12S2089;D12S364;D12S847;G11784;G41299;G41304;G60183;G62303;GRIN2B;GRIN2B_968;RH121528;SHGC-145043;SHGC-78950;WI-18930 GluN2B;MGC142178;MGC142180;MRD6;NMDAR2B;NR2B;NR3;hNR3 N-methyl D-aspartate receptor subtype 2B;N-methyl-D-aspartate receptor subunit 3;OTTHUMP00000174410;glutamate [NMDA] receptor subunit epsilon-2;glutamate receptor ionotropic, NMDA 2B;glutamate receptor subunit epsilon-2 APPROVED protein-coding HGNC:4586 00697 138252;613970 REVIEWED 1354510 GRIP2 glutamate receptor interacting protein 2 INVOLVED IN synaptic transmission (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; 2,2',5,5'-tetrachlorobiphenyl (ortholog); ammonium chloride (ortholog) 3 3 3 p24-p23 14468851 14521806 - 14530396 14583588 - 14489111 14542081 - 1580863;6480464;8554872 10574462;11214970;11214971;11641419;12168954;12458226;12629171;12923177;14702039;16055064;16713569;17474147;19734545;20379614;8619474;9110174;9768844 80852 Q9C0E4 AB051506;ABBA01025158;AC090952;AF052177;AK024507;AK074145;AK095762;AMYH02006321;CH471055;NM_001080423 BAB15797;BAB21810;BAB84971;EAW64198;NP_001073892;Q9C0E4 Hs.517819 1699094;1734264 D3S2754E;RH103123 GRIP-2 glutamate receptor-interacting protein 2 protein-coding ENSG00000144596 HGNC:23841 VALIDATED 1345662 GRIP1 glutamate receptor interacting protein 1 This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010] 12 12 12 q14.3 66405432 66737052 - 66741178 67463014 - 66347398 67069231 - 632959;1580863;6480464;7240710;8554872;8699517 10197531 10379889;10607837;10652338;10896157;11027271;11438648;11477071;11641419;11891216;11983685;11997499;12011465;12458226;12477932;12571287;12597860;14702039;14726489;14966289;15226318;15231748;15347661;15471871;15572661;15731352;16055064;16344550;16344560;16362036;16423881;16461774;16541075;16649994;16957778;16990252;17257825;17303296;17336575;17426288;17631495;17882261;18155042;18311135;18315564;18950845;19086053;19736351;20379614;20877300;21292004;21383172;22510445;24255178;24749734;9773983;9849963;9883737 23426 F5H3F9;F5H3G9;F5H424;F5H4M4;F5H4N6;F5H4P8;F5H4Q7;F5H5I0;H0YFK8;H0YFY3;H0YGF1;H0YGM4;Q9Y3R0 ABBA01026572;ABBA01026573;ABBA01026574;AC022508;AC073530;AC078888;AC078889;AC090710;AC122686;AC134511;AC135251;AI190011;AJ133439;AK095519;AK295565;AK307576;AMYH02026680;AMYH02026681;AMYH02026682;AMYH02026683;AMYH02026684;BC029871;BC115393;BC115394;DA801887;NG_021400;NM_001178074;NM_021150;XM_005268754;XM_005268755;XM_005268756;XM_005268757;XM_005268758;XM_005268759 AAI15394;AAI15395;BAG58465;CAB39895;NP_001171545;NP_066973;Q9Y3R0;XP_005268811;XP_005268812;XP_005268813;XP_005268814;XP_005268815;XP_005268816 Hs.505946 1649060;1662117;1673667;1704128;1704272;1710376;1739695;1746737;1746913;1782596;2176338;2184182;2217386;5091217 D12S1461;D12S1485;G17669;G64817;G64820;GRIP1_3128;SGC30924;SHGC-141905;SHGC-30860;SHGC-79745;SHGC-82457;SHGC-83274;WI-21115;WIAF-2203 GRIP OTTHUMP00000239944;OTTHUMP00000239945;OTTHUMP00000239946;OTTHUMP00000239947;OTTHUMP00000239969;glutamate receptor-interacting protein 1 APPROVED protein-coding ENSG00000155974 HGNC:18708 219000;604597 REVIEWED 732718 GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010] 19 19 19 q13.33 45763381 45813433 + 48898132 48948188 + 48394875 48444931 + 1580863;737806;2325945;6480464;6907045;8554872 19856012;8774946 10197777;10216082;10373510;10448428;10479680;10555109;10777567;10862698;11483648;11606043;11937501;12082569;12191494;12414113;12775422;12815021;14622581;14644469;15749123;16094258;16328341;16481105;16489129;16697675;17360663;17474147;18444252;19020013;19036954;19125103;19156168;19526283;21491143;21670103;21890473;21906983;21915661;21948112;21963094;22114277;22486492;22552781;22833210;22940423;23267846;23443559;23639431;23665428;24086760;7569905;7695237;8563977;8581564;8613785;8615909;8665664;8724036;8804048;8821747;8822372;8845955;8955056;9258910;9418891;9480759;9481670;9489750;9647694;9651389;9745929 2906 O15399;Q59G17 AB007621;AB209292;ABBA01032990;ABBA01032991;ABBA01032992;ABBA01032993;ABBA01032994;ABBA01032995;ABBA01032996;ABBA01032997;ABBA01032998;AC008403;AC011527;AMYH02036296;AMYH02036297;AMYH02036298;AMYH02036299;AW139866;CH471177;NM_000836;U77783 AAC15910;BAD92529;EAW52346;NP_000827;O15399 Hs.445015 1688488 RH92449 EB11;GluN2D;NMDAR2D;NR2D N-methyl D-aspartate receptor subtype 2D;N-methyl-d-aspartate receptor subunit 2D;estrogen receptor binding CpG island;glutamate [NMDA] receptor subunit epsilon-4;glutamate receptor ionotropic, NMDA 2D APPROVED protein-coding ENSG00000105464 HGNC:4588 04095 602717 REVIEWED 1353575 GRIN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B ENCODES a protein that exhibits calcium channel activity (ortholog); cation channel activity (ortholog); glycine binding (ortholog); INVOLVED IN ionotropic glutamate receptor signaling pathway (ortholog); protein insertion into membrane (ortholog); regulation of calcium ion transport (ortholog); PARTICIPATES IN excitatory synaptic transmission pathway; glutamate signaling pathway; FOUND IN N-methyl-D-aspartate selective glutamate receptor complex (ortholog); neuronal cell body (ortholog); INTERACTS WITH 17beta-estradiol; methotrexate; 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p13.3 932775 942061 + 1000437 1009723 + 1000438 1009724 + 1580863;632842;6480464;6907045 11823786 10197777;10448428;10555109;11483648;11606043;11717388;11735224;12008020;12414113;12775422;14644469;15057824;15722182;15749123;16481105;16489129;17543277;17687115;19156168;19526283;20016182;20153313;20398908;21491143;21948112;22114277;22552781;22940423;23571587;24086760;7569905;7695237;8563977;8581564;8724036;8804048;8821747;8822372;8845955;8889548;8955056;9651389;9745929 116444 O60391;Q5F0I5 ABBA01002617;AC004528;AMYH02035131;AX223863;AY507106;AY507107;BK000070;BK004079;CB243197;CH471139;NM_138690;XM_003403700 AAC12680;AAI56391;AAS87020;AAS87021;CAC69380;DAA00018;DAA04570;EAW69576;NP_619635;O60391;XP_003403748 Hs.660378 1338063;2171945 D19S886;SGC32341 GluN3B;NR3B N-methyl-D-aspartate receptor subtype 3B;NMDA receptor subunit 3B;NMDA type glutamate receptor subunit NR3B;NMDAR3B;OTTHUMP00000042007;glutamate [NMDA] receptor subunit 3B;glutamate receptor ionotropic, NMDA 3B protein-coding ENSG00000116032 HGNC:16768 606651 PROVISIONAL 1606337 GRINA glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 5-fluorouracil; aflatoxin B1 8 8 8 q24.3 64 3422 + 145064226 145067596 + 143990058 143993428 + 6480464 10197777;10448428;10555109;11483648;11606043;12414113;12477932;12761501;12775422;14644469;15749123;16341674;16481105;16489129;1719427;18440869;18976975;19526283;20837469;21948112;22114277;22240901;22552781;23267846;24086760;7695237;8406459;8563977;8581564;8724036;8786101;8804048;8821747;8822372;8845955;8955056;9651389;9745929 2907 E9PPG3;E9PQF8;H0YC98;H0YCP9;H0YEI4;Q7Z429 AB097026;ABBA01005229;ABBA01005230;ABBA01005231;ABBA01005232;ABBA01005233;AC109322;AK127640;AK294127;AL157442;AMYH02018950;BC041788;BC065834;BC084553;BM762447;BQ682451;CH471416;HB925977;HB937983;HB942716;HB954087;HB966685;HC983386;HC995392;HD000126;HD011497;HD024095;NM_000837;NM_001009184;U44954;XM_005250899 AAB94292;AAH41788;AAH84553;BAC77379;BAG54539;BAG57457;CAB75662;CBF97932;CBG03816;CBG06126;CBG11699;CBG17985;CBV11452;CBV17338;CBV19648;CBV25213;CBV31340;EAW52304;EAW52305;EAW52306;NP_000828;NP_001009184;Q7Z429;XP_005250956 Hs.594634 1679563;1779448 RH80294;SHGC-153430 HNRGW;LFG1;MGC99687;NMDARA1;TMBIM3 NMDA receptor glutamate-binding subunit;OTTHUMP00000229746;OTTHUMP00000229747;OTTHUMP00000229749;OTTHUMP00000229750;glutamate [NMDA] receptor-associated protein 1;glutamate receptor, NMDA subtype, glutamate-binding subunit;protein lifeguard 1;putative MAPK-activating protein PM02;transmembrane BAX inhibitor motif containing 3;transmembrane BAX inhibitor motif-containing protein 3 protein-coding ENSG00000178719 HGNC:4589 15927 138251 VALIDATED 733376 GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 74845889 75014334 - 104331634 104500862 - 101569352 101738580 - 1642190;6480464;6907045;8554872 16477151 10197777;10448428;10555109;11160393;11483648;11588171;11606043;11735224;11853319;11880201;12391275;12414113;12477932;12775422;14644469;14684485;14760703;15749123;16481105;16489129;17047094;17082780;17214563;17320117;17502428;17617428;17658481;17997397;18075478;18239623;18296432;18445116;18649358;19086053;19156168;19295509;19386922;19488045;19526283;19665356;19913121;20016182;20084518;20379614;20628086;21135540;21152063;21429969;21491143;21948112;22114277;22118674;22552781;22801082;22914463;22940423;23237318;23251661;23400010;23852340;23870195;24086760;24332987;24386575;7569905;7695237;8563977;8581564;8724036;8804048;8821747;8822372;8845955;8955056;9620802;9651389;9745929 116443 Q8TCU5 AB075853;ABBA01042870;ABBA01042871;ABBA01042872;AF416558;AJ416950;AK127342;AL137422;AL356516;AL359651;AL591377;AMYH02021355;BC029757;BC132866;BC132868;BC167432;CH471105;HH956596;NM_133445 AAI32867;AAI32869;AAI67432;AAL40734;BAB85559;CAC95229;CBX51242;EAW58958;EAW58959;EAW58960;NP_597702;Q8TCU5 Hs.654783 1683429;1708250;1708960;1710484;1735916;1753631;1764477;1778538;1795952;2178582 D9S1054E;G10443;GRIN3A_972;RH91980;SHGC-107521;SHGC-148080;SHGC-79388;SHGC-79539;SHGC-86259;WI-14669 FLJ45414;GluN3A;NMDAR-L;NR3A N-methyl-D-aspartate receptor subtype 3A;NMDAR3A;OTTHUMP00000021814;glutamate [NMDA] receptor subunit 3A;glutamate receptor ionotropic, NMDA 3A APPROVED protein-coding ENSG00000198785 HGNC:16767 09443 606650 REVIEWED 7771665 GRK5-IT1 GRK5 intronic transcript 1 (non-protein coding) 10 10 120967582 120972216 + 119208070 119212704 + 23251661 101927868 ABBA01062904;AL355861;AMYH02023904;XR_246196;XR_247579;XR_252827 ncrna HGNC:49478 MODEL 1344318 GRK6P1 G protein-coupled receptor kinase 6 pseudogene 1 13 13 13 q12.11 2954853 2957516 + 21893166 21894965 + 21319027 21320826 + 7789183;9016947 2871 ABBA01068604;AL139380;AMYH02027658;NG_001133;U48958 1738393;2123281 D13S662E;WI-18758 GPRK6L;GPRK6P;GRK6PS APPROVED pseudo HGNC:4547 INFERRED 1345543 GRK1 G protein-coupled receptor kinase 1 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008] 13 13 13 q34 95148890 95166521 + 114321594 114325974 + 113723073 113735664 + 1580863;1600000;1600001;1600002;1600004;2298875;2298876;6480464;6893555;6907045;7240710;8554872 10549637;11872041;12456492;15939031;18245565;21903131;9020843 10085129;10852916;11394879;11498053;11717351;11910029;12477932;12939331;15057823;1527025;15946941;16319817;16407241;16473576;16478881;1656454;17070587;17524610;17765441;18266817;19753316;21922265;22183412;22623531;22959359;8617805;8812493;8889548;9099669;9147475;9268593;9419375;9478965;9501174;9753452 6011 Q15835 ABBA01015953;ABBA01019874;AC187648;AF019764;AF019765;AK289912;AMYH02028747;AMYH02028748;AY327580;BC140945;BM702747;BX537316;BX647503;CH471085;FP565177;L77502;L77503;NM_002929;U63973 AAB05929;AAC97160;AAC97161;AAG50439;AAI40946;AAQ94192;AAT00534;BAF82601;EAX09222;NP_002920;Q15835 Hs.103501;Hs.721727 1711452;2141048 G46170;RH47014 GPRK1;RHOK;RK rhodopsin kinase APPROVED protein-coding HGNC:10013 01585 180381;613411 REVIEWED 1348499 GRK5 G protein-coupled receptor kinase 5 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008] 10 10 10 q26.11 114696799 114943133 + 120967197 121215131 + 119207685 119455619 + 1580863;4140391;5133417;5688382;5688353;5688375;5688380;5688385;5688378;5688384;5688355;5688373;5685370;6480464;6907045;5135529;8549592;8554872 10094932;14565944;16304060;16849637;17125886;17996024;18522748;18662895;19110970;19229505;19478075;20945396;21046632;22074755 10085129;10467231;10617630;10625670;10852916;10858434;11504827;11517230;11700307;12067742;12477932;12507501;14691047;14702039;14976207;15146197;15489334;15542828;16385451;17986524;18034461;18425130;18622265;18855542;19008357;19092051;19487588;19628119;19661922;19801552;19842931;19913121;20023040;20038610;20124405;20201926;20443868;20468064;20628086;20677014;20730384;21127457;21184589;21575264;21728385;21768220;21784156;22196842;22223642;22467873;22952844;22961080;23139825;23251661;23658733;23693024;23794609;24178511;7685906;7789183;8144599;8288567;8626574;8662816;8662852;8889548;9092566;9211925;9813065;9826657 2869 P34947;Q5T060 ABBA01062898;ABBA01062899;ABBA01062900;ABBA01062901;ABBA01062902;ABBA01062903;ABBA01062904;AF370369;AK097099;AK298261;AK301450;AK309761;AK313012;AL355273;AL355861;AL583824;AMYH02023904;AMYH02023905;AMYH02023906;AMYH02023907;AMYH02023908;BC018116;BC064506;BC114448;BQ184611;CH471066;CN290123;HI179064;L15388;NM_005308;XM_005269707;XM_005269708 AAA58620;AAH64506;AAI14449;AAQ15205;BAG35847;BAG60525;BAG62974;CBX53840;EAW49393;EAW49394;EAW49395;NP_005299;P34947;XP_005269764;XP_005269765 Hs.524625;Hs.736460 1337241;1699126;1700858;1704622;1711226;1712593;1751233;1766537;1772713;1782176;1855159;2107185;2111013;2111352;2128969;2156790;2161371;2184081;5015404;5022004;5024413 D10S1271E;D10S1701;D10S478E;D4Ulb4;GRK5_7795;L17705;L17877;RH103139;RH104055;RH120316;RH69017;RH78041;SHGC-105094;SHGC-149853;SHGC-156019;SHGC-77890;SHGC-89038;STS-AA011510;STS-L15388;WI-19887;WI-4736 FLJ39780;FP2025;GPRK5 OTTHUMP00000020596;g protein-coupled receptor kinase GRK5 APPROVED protein-coding ENSG00000198873 HGNC:4544 02926 600870 REVIEWED 732724 GRIPAP1 GRIP1 associated protein 1 This gene encodes a guanine nucleotide exchange factor for the Ras family of small G proteins (RasGEF). The encoded protein interacts in a complex with glutamate receptor interacting protein 1 (GRIP1) and plays a role in the regulation of AMPA receptor function. [provided by RefSeq, Aug 2013] X X X p11.23 52807255 52833383 + 48830130 48858675 - 48973720 49002264 - 632892;6480464 10896157 10574461;11230166;11704662;11891216;12207967;12477932;12571287;15489334;15507123;15761153;15772651;15897011;16169070;16344560;17761173;20098723;21139048;21890473;21906983;21988832;22779921;22863883;24250222;24816145 56850 Q4V328 AA679202;AB032993;ABBA01046091;ABBA01046092;ABBA01046093;ABBA01046094;ABBA01046095;ABBA01046096;AC233294;AF207550;AJ297364;AK292158;AL136847;AMYH02039315;AMYH02039316;AMYH02039317;BC001522;BC101544;BC101546;BC110636;BX530088;BX640704;BX647801;BX647804;CD109978;CH471224;DB099470;NG_016263;NM_020137;XM_005272628 AAH01522;AAI01545;AAI01547;ABM83652;ABW03542;BAA86481;BAF84847;CAB95949;CAE45824;CAI45985;EAW50715;EAW50716;EAW50717;EAW50718;EAW50719;NP_064522;Q4V328;XP_005272685 Hs.109929 1701186;2159650;2176938;2177872;2191625;5020948;5022200;5022588;5022651;5037552 D11S2921;D5S1597E;D8S2279;DXS8227;G35510;L18426;MARC_3154-3155:996679049:1;RH104221;SHGC-34673;STS-R98433 DKFZp434P0630;GRASP-1;KIAA1167;MGC126593;MGC126595 GRIP1-associated protein 1;MPMGp800B12492Q3;OTTHUMP00000031960;OTTHUMP00000031961;OTTHUMP00000031962;OTTHUMP00000031963;grip-associated protein 1 APPROVED protein-coding ENSG00000068400 HGNC:18706 02325 300408 REVIEWED 736303 GRM1 glutamate receptor, metabotropic 1 This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 6 6 6 q24 147089147 147499119 + 146286032 146758782 + 146027782 146437646 + 704404;1580863;6480464;5147998;6907045;8699517;8554872;7240710 11226670 10202136;10349865;10530810;10823959;10828618;10945991;11076863;11278325;11535235;11672421;11847215;11850456;11905408;11951051;11961129;11961143;12444084;12477932;12704387;14574404;14614461;15155843;15184389;15330338;15383311;15452121;15466247;15660124;15745950;15870073;15945063;15949941;16091361;16489129;16697675;16847639;17332361;17430891;17609672;17678970;18059092;19084525;19146831;19156168;19295155;19571223;19717561;19843246;19874574;19913121;19924463;20034999;20149785;20180987;20379614;20464528;20628086;20705606;20859245;20864408;21558162;21559497;21681448;21962378;22169210;22448230;22460132;22520513;22771868;22798429;22894836;22901947;23085756;23109136;23175844;23303475;23481697;23620748;23922822;24045944;24280223;24334926;24357660;24404125;24491800;24603153;24658000;24811382;25003238;25057192;7476890;8824806;8838462;9069287;9076744;9376535;9488690;9582347;9651375;9776379;9808458;9808459;9886087 2911 Q13255;Q59HC2 AB208837;ABBA01025722;ABBA01025723;ABBA01025724;ABBA01025725;AK308550;AL031769;AL035698;AL096867;AL592423;AMYH02014653;AMYH02014654;BC136280;BC143777;BC143779;CH471051;KF458311;KF458312;KF458314;KF458316;L76627;L76631;NG_012839;NM_000838;NM_001278064;NM_001278065;NM_001278066;NM_001278067;U31215;U31216;XM_006715467;XM_006715468 AAA87843;AAA87844;AAB05337;AAB05338;AAI11845;AAI36281;BAD92074;EAW47834;EAW47835;NP_000829;NP_001264993;NP_001264994;NP_001264995;NP_001264996;Q13255;XP_006715530;XP_006715531 Hs.32945 1335714;1338192;1341037;1649050;1695352;1703280;1715609;1717079;1720337;2116621;2122022;2124079;2130173;2149165;2160348;2168641;5018001 AL021851;D6S1042;D6S1342;D6S1480;D6S1649;D6S971;FRA23;G10437;G29866;G48324;RH120949;RH121456;RH123919;RH37583;RH79141;SHGC-35565;SHGC-68263 GPRC1A;GRM1A;MGLUR1;MGLUR1A;PPP1R85;SCAR13;mGlu1 OTTHUMP00000017365;OTTHUMP00000017366;OTTHUMP00000222175;OTTHUMP00000222176;metabotropic glutamate receptor 1 APPROVED protein-coding ENSG00000152822 HGNC:4593 05129 604473;614831 REVIEWED 1606583 GRK4 G protein-coupled receptor kinase 4 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 4 4 4 p16.3 2876244 2953687 + 2965232 3042474 + 2963505 3040747 + 6480464;6907045;7207060;7401225;8554872 15637145;15734727 10379886;11517230;12164861;12446468;12477932;12881416;1338872;15097232;15489334;15815621;16338988;16461192;16636198;16940246;17044852;17259440;18190783;18413491;18711006;18711008;19119263;19520868;19842931;19913121;19948975;19953087;20098747;20153824;20308035;20424473;20448640;20537417;20577119;20628086;21544086;21890473;22639547;22939624;23195037;23839509;24218433;8125298;8135832;8626439;8889548;9092566 2868 B4DEC9;D6REW5;P32298 ABBA01029478;ABBA01029479;ABBA01029480;ABBA01029481;ABBA01029482;AK223581;AK292390;AL390065;AMYH02008623;AMYH02008624;AMYH02008625;BC027597;BC117320;BI465220;BM725978;CH471131;L03718;NG_029102;NM_001004056;NM_001004057;NM_005307;NM_182982;U33054;U33055;U33056;U33168;X75897;X97879;X97880;X97881;X98118;XM_005247957;XM_005247959;XM_005247960;XM_005247961;XM_005247962;XM_005247963;XM_006713879;XM_006713880;Z68192 AAB04045;AAC50406;AAC50407;AAC50408;AAC50409;AAC50410;AAC50411;AAC50412;AAI17321;ADR83217;BAD97301;BAF85079;CAA53506;CAA66468;CAA66469;CAA66470;CAA66802;CAA92341;EAW82479;EAW82480;EAW82481;EAW82482;EAW82483;EAW82484;EAW82485;NP_001004056;NP_001004057;NP_005298;NP_892027;P32298;XP_005248014;XP_005248016;XP_005248017;XP_005248018;XP_005248019;XP_005248020;XP_006713942;XP_006713943 Hs.32959 1673149;1729801;1768491;1776621;5023262;5120283;7184662;7184861 D4S127;D4S95;GDB:230300;RH70602;SHGC-67218;STS-AA024498;STS-N23898 GPRK2L;GPRK4;GRK4a;IT11;ITI1 G protein-coupled receptor kinase 2-like;G-protein coupled receptor kinase 4;OTTHUMP00000216992;OTTHUMP00000216993;OTTHUMP00000216995;OTTHUMP00000221010;g protein-coupled receptor kinase GRK4 APPROVED protein-coding ENSG00000125388 HGNC:4543 00656 137026 REVIEWED 1347561 GRK7 G protein-coupled receptor kinase 7 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [provided by RefSeq, Jul 2008] 3 3 3 q24 139920491 139959301 + 141497043 141535892 + 141778201 141817050 + 1580863;6480464;6893555;6907045 21903131 11717351;11754336;12601058;15087239;15946941;16473576;18266817;19913121;19953087;20379614;20628086;22183412;22939624 131890 Q8WTQ7 ABBA01059039;AC112504;AF282269;AF439409;AMYH02007805;AMYH02007806;CH471052;NM_139209 AAI48328;AAI52978;AAL33880;AAL48216;EAW78990;NP_631948;Q8WTQ7 Hs.680654 5037552 D8S2279 GPRK7 OTTHUMP00000214002;g protein-coupled receptor kinase GRK7 APPROVED protein-coding HGNC:17031 07378 606987 REVIEWED 732930 GRM2 glutamate receptor, metabotropic 2 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p21.2 51718848 51731506 + 51741081 51752629 + 51707065 51718613 + 1580863;704404;6480464;6907045;8554872 11317221;11641422;11840499;11850456;11897108;12477932;15035981;15246118;15330338;15489334;15837331;16344560;16678921;18297054;18853337;19026996;19086053;19156168;19367581;19386277;19402024;19635471;19945495;20211215;21173788;21881873;22870276;22988116;23129762;23149219;23407939;7620613;8824806;8863838;9651375 2912 C9JD41;C9JL63;H7BXL3;Q14416;Q86YG3 AB045011;AB209164;ABBA01024520;ABBA01024521;AC099050;AK289984;AK313056;AK315816;AMYH02006792;AMYH02006793;AY999299;BC041447;BC113615;BC113619;BX648951;CH471055;DA391442;EU432122;L35318;NM_000839;NM_001130063;XM_006713121 AAA76855;AAH41447;AAI13616;AAI13620;AAY14640;ABY87921;ADR83425;BAB19817;BAD92401;BAF82673;BAF98707;EAW65150;NP_000830;NP_001123535;Q14416;XP_006713184 Hs.121510 1655280;1774960;1848696;2190603;5126641 A002C19;GRM2;RH66405;SHGC-77001;WI-20087 GLUR2;GPRC1B;MGLUR2;mGlu2 OTTHUMP00000210984;OTTHUMP00000210986;glutamate metabotropic receptor 2;glutamate receptor homolog;metabotropic glutamate receptor 2 APPROVED protein-coding ENSG00000164082 HGNC:4594 04977 604099 REVIEWED 1350771 GRK6 G protein-coupled receptor kinase 6 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q35 171631577 171647739 - 176853687 176869850 + 177426496 177442849 + 1580863;5133417;5147387;5685370;5684916;5684919;5688380;5688373;6480464;6907045;8554872 10094932;16304060;16484629;17996024;18662895;20410529;22090514 10334944;10379886;10446210;10467231;10506199;10852916;10861009;11504827;11517230;11856737;12007830;12077128;12477932;12507501;12552191;14702039;15489334;15498832;16169070;16613860;17081983;17102134;17538017;19423652;19801552;19913121;19946888;19956569;19996089;20038610;20383146;20424473;20468064;20628086;21139048;21784156;21890473;21906983;21963094;21988832;22505724;22678362;22703881;22916037;22939624;22952844;23375037;23497290;24302161;24412271;24510965;24561123;24816145;7789183;7961702;8077221;8366096;8415712;9211925;9341194;9819198;9826657 2870 B3KPS5;D6R9V4;D6RC88;D6RDA3;D6RHC7;D6RHX8;F8W9W2;H0Y967;P43250 ABBA01033456;ABBA01033457;AC145098;AF040751;AF040752;AK056697;AMYH02012836;BC009277;BC017272;BE965975;BI258860;BU507609;BX382886;CH471195;L16862;NG_031981;NM_001004105;NM_001004106;NM_002082;U00686;XM_006714858;XM_006714859;XM_006714860 AAA03565;AAA60175;AAC09273;AAC09274;AAH09277;AAH17272;ADZ15440;BAG51787;EAW84997;EAW84998;EAW84999;EAW85000;EAW85001;NP_001004105;NP_001004106;NP_002073;P43250;XP_006714921;XP_006714922;XP_006714923 Hs.235116 1738393;1770556;2123281;2217388 D13S662E;GRK6_3990;RH70522;WI-18758 FLJ32135;GPRK6 OTTHUMP00000223834;OTTHUMP00000223835;OTTHUMP00000223836;OTTHUMP00000231482;OTTHUMP00000231483;g protein-coupled receptor kinase GRK6 APPROVED protein-coding ENSG00000198055 HGNC:4545 02925 600869 REVIEWED 6481337 GRM5-AS1 GRM5 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 11 11 88237744 88257222 + 88504576 88524054 + 8554872 100873989 ABBA01011533;AMYH02025262;AP003120;HG504086;HG504087;NR_049724 Hs.616625 RP11-657K20.2 APPROVED ncrna ENSG00000255082 HGNC:40265 VALIDATED 70075 GRM6 glutamate receptor, metabotropic 6 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Feb 2012] 5 5 5 q35 174032368 174049143 - 178405328 178422124 - 178978327 178995123 - 1580863;704404;6480464;6907045;7240710;8554872;8699517 11124982;11179672;15781871;16249515;17405131;18195715;19086053;19156168;19666700;19862333;20379614;20560679;20801516;22008250;22735794;22959359;23449627;23452348;23714322;9215706 2916 O15303 AB065467;ABBA01010010;AC104117;AJ245871;AJ245872;AMYH02012867;AMYH02012868;BX647168;CH471165;NG_008105;NM_000843;U82083 AAB82068;AAI72277;BAC05726;CAB65106;CAB65107;CAI46028;EAW53821;NP_000834;O15303 Hs.248131 5015961;5037552 D15S1477;D8S2279 CSNB1B;DKFZp686H1993;GPRC1F;MGLUR6;mGlu6 OTTHUMP00000161489;metabotropic glutamate receptor 6 APPROVED protein-coding ENSG00000113262 HGNC:4598 04975 257270;604096 REVIEWED 6481406 GRM7-AS1 GRM7 antisense RNA 1 p26.1 100873937 AC068313;AI222038;NR_046606 Hs.570608 APPROVED ncrna HGNC:40267 VALIDATED 731311 GRM4 glutamate receptor, metabotropic 4 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 6 6 6 p21.3 35543989 35655835 - 33989623 34123399 - 34018643 34155622 - 1580863;704404;6480464;6907045;8554872 10779504;10828590;11525421;11801738;11847215;11943148;12477932;14574404;14702039;15102938;15184361;15217955;15494036;15867225;16344560;16380905;16582932;16899734;17884634;19086053;19156168;19328558;19351574;20201926;20338729;20826542;20859245;23727862;7617140;8738157;8824806;8863838;8889548;9473604 2914 A1L4F9;A8K0J8;AAB34891;B7ZLU9;Q14833;V9GYB0;V9GYR3 AA993227;AB209104;ABBA01038165;ABBA01038166;ABBA01038167;ABBA01038168;ABBA01038169;ABBA01038170;AK122836;AK122982;AK126746;AK131536;AK289524;AK289534;AK289563;AK293913;AK293949;AK308669;AK312300;AL354740;AL590403;AMYH02013505;BC130526;BC130528;BC144057;BM683737;CH471081;DA094245;DA096351;DA116042;DA121890;EU432124;NG_029677;NM_000841;NM_001256809;NM_001256811;NM_001256812;NM_001256813;NM_001282847;U92457;X80818;XM_006715071;XR_427829 AAB34891;AAB51762;AAI30527;AAI30529;AAI44058;ABY87923;ADR83416;ADR83420;BAD18673;BAD92341;BAF82213;BAF82223;BAF82252;BAG53752;BAG53831;BAG54370;BAH11625;BAH11632;CAA56784;EAX03759;EAX03760;NP_000832;NP_001243738;NP_001243740;NP_001243741;NP_001243742;NP_001269776;Q14833;XP_006715134 Hs.429018;Hs.435128;Hs.736330 1336155;1337899;1729169;1757937;1758255;1761905;1762671;1763167;1763959;1786084;1795954;2125119;2162251;5015619;5020948;5109281;5127937 D11S3114;D1S1425;D6S1427;D6S1542;D6S1568;G35510;G63890;GRM4_974;SHGC-145839;SHGC-146465;SHGC-146896;SHGC-146897;SHGC-147614;SHGC-147804;SHGC-152365;SHGC-156131;STS-R88835 GPRC1D;MGC177594;MGLUR4;mGlu4 OTTHUMP00000016221;glutamate metabotropic receptor 4;metabotropic glutamate receptor 4 APPROVED protein-coding ENSG00000124493 HGNC:4596 04978 604100 REVIEWED 6481407 GRM7-AS2 GRM7 antisense RNA 2 p26.1 100873936 AC066606 APPROVED ncrna HGNC:40266 732815 GRM3 glutamate receptor, metabotropic 3 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008] 7 7 7 q21.1-q21.2 80977204 81198167 + 86273230 86494193 + 86643914 86864876 + 1580863;6480464;6907045;8554872 11342382;11500049;11535235;11744707;11840505;11850456;11891216;12477932;12690205;12782962;12786977;12853948;14663150;15158450;15178451;15246118;15310849;15489334;15494036;15567072;15652990;15892884;15913960;16380905;16417579;16585454;16904291;17006672;17531207;17636131;17684500;17948896;18075480;18197082;18256595;18412850;18541626;18583979;18614340;18853337;19086053;19125103;19156168;19328558;19367581;19386277;19403271;19439994;19482054;19913121;20132315;20379614;20628086;20638435;20957330;21041608;21173788;21344500;21881873;21946352;22022368;22479309;22909248;23175182;23307741;23382691;23575746;8824806;8840013;8887960 2913 A4D1D0;B7Z204;C9J2I2;C9JIT1;C9JUH9;Q14832 ABBA01045869;ABBA01045870;ABBA01045871;AC002081;AC004829;AC005009;AK291406;AK294178;AK294701;AMYH02016208;AMYH02016209;AMYH02016210;AMYH02016211;AMYH02016212;AMYH02016213;BC022496;BC041407;CH236949;CH471091;DQ315361;DQ315362;DQ315363;EU432123;KF458499;NM_000840;X77748;XM_005250290;XM_006715937 AAC60379;AAD15616;AAH22496;AAH41407;ABC47402;ABM83322;ABM84213;ABM87618;ABY87922;BAF84095;BAH11690;BAH11851;CAA54796;EAL24182;EAW76971;EAW76972;NP_000831;Q14832;XP_005250347;XP_006716000 Hs.590575 1335823;1652369;1670861;1679231;1721787;1751361;1846915;1854498;1857865;2115877;2116557;2116559;2126703;2162382;5017545;5124998;7186341 A002C17;D7S1965;D7S644;D7S753;G17125;G19925;G59764;GDB:1318302;GDB:1318509;GRM3;RH78374;RH93070;RH94155;SHGC-105153;UniSTS:495991;WI-18027 GLUR3;GPRC1C;MGLUR3;mGlu3 OTTHUMP00000161386;OTTHUMP00000204701;glutamate metabotropic receptor 3;metabotropic glutamate receptor 3 APPROVED protein-coding ENSG00000198822 HGNC:4595 03070 601115 REVIEWED 1603058 GRM7 glutamate receptor, metabotropic 7 L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 3 3 3 p26.1-p25.1 6840354 7720749 + 6902802 7783218 + 6861115 7741531 + 6480464;6907045;8554872 10488094;10550060;10828612;11007882;11163549;11891216;11912074;11943148;11953448;12052533;12477932;12746871;14702039;15494036;17167337;18329248;18599484;18821564;19047183;19086053;19156168;19165232;19328558;19351574;19638256;19736351;19913121;20038947;20068591;20078931;20201926;20379614;20398908;20628086;21139048;21255632;21368711;21572164;21572167;21813496;22419666;22589738;23102807;23201551;23295062;23648065;24146964;24278217;8840028;9144652;9473604;9630572 2917 B2R693;B9EGG9;C9JMT3;C9JU97;F8WAW6;F8WCR9;H7C3K2;Q14831;Q59G95 AB209214;ABBA01020430;ABBA01020431;ABBA01020432;ABBA01020433;ABBA01020434;ABBA01020435;ABBA01020436;ABBA01020437;ABBA01020438;ABBA01020439;ABBA01020440;AC023485;AC026199;AC026204;AC027121;AC034194;AC066585;AC066606;AC068313;AC077690;AI701722;AK097817;AK123326;AK312488;AMYH02006206;AMYH02006207;AMYH02006208;AMYH02006209;AMYH02006210;AMYH02006211;AMYH02006212;AMYH02006213;AMYH02006214;AMYH02006215;AMYH02006216;AW511101;BC136458;BC136459;CH471055;KF457550;KF457551;KF457552;KF457554;KF457555;KF457556;KF457557;KF457558;KF457559;KF457560;KF457561;KF457564;KF457565;NG_029781;NM_000844;NM_181874;X94552;XM_005265095 AAI36459;AAI36460;BAD92451;BAG35390;CAA64245;EAW63933;EAW63934;EAW63935;NP_000835;NP_870989;Q14831;XP_005265152 Hs.606393;Hs.660131 1299972;1336785;1654960;1676394;1685323;1689414;1689604;1693308;1693928;1704108;1704452;1707784;1708474;1710662;1724263;1727001;1729171;1752607;1754799;1760467;1776012;1788994;1795956;2125349;2156133;2174828;2175294;2179569;5015619;5019697;5022322;5037552;5115856;7187626;7187797 A009F40;D11S2560;D11S3114;D21S1269;D3S1304;D3S3055;D3S3277;D3S3386;D3S3728;D8S2279;G32514;G42359;G42655;G62898;G63891;G65576;GRM7_1388;L29656;RH121274;RH67815;RH80246;RH93962;SHGC-106435;SHGC-141598;SHGC-143144;SHGC-2389;SHGC-76677;SHGC-79598;SHGC-82113;SHGC-82964;SHGC-83375;SHGC-85025;ksks446 FLJ40498;GLUR7;GPRC1G;MGLUR7;PPP1R87;mGlu7 OTTHUMP00000155219;OTTHUMP00000206960;OTTHUMP00000206961;OTTHUMP00000214674;OTTHUMP00000214675;OTTHUMP00000238688;metabotropic glutamate receptor 7 APPROVED protein-coding ENSG00000196277 HGNC:4599 04979 604101 REVIEWED 5144601 GRM7-AS3 GRM7 antisense RNA 3 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 3 p26.1 6610869 6784676 - 6674034 6847142 - 6632358 6805449 - 8554872 101927347 ABBA01020441;ABBA01020442;AC023485;AC069277;AMYH02006205;AMYH02006206;BX113348;BX117432;DB447952;HG495415;HG495416;HG495419;NR_110123;NR_110125 Hs.333345;Hs.602105 5108676 D3S745 APPROVED ncrna ENSG00000226258 HGNC:42444 VALIDATED 1345534 GRPEL1 GrpE-like 1, mitochondrial (E. coli) ENCODES a protein that exhibits unfolded protein binding; INVOLVED IN cellular protein metabolic process (inferred); protein folding (inferred); protein targeting to mitochondrion (inferred); FOUND IN mitochondrial matrix; mitochondrion; INTERACTS WITH (S)-colchicine; 2,3,7,8-tetrachlorodibenzodioxine; adenine 4 4 4 p16 6965198 6973219 - 7061780 7069800 - 7060053 7068073 - 1580863;6480464 11311562;12477932;12840016;15489334;18029348;18457437;20186120;20811636;20877624;21139048;21642987;22304920;22863883;23345595;24816145;8619474;9110174 80273 B4DWV5;Q9HAV7 ABBA01012737;AC097382;AF070525;AF087896;AF298592;AK098475;AK301695;AK312882;AMYH02008679;BC024242;CH471131;NM_025196 AAG31605;AAH24242;AAP97195;ABM82449;ABM85639;BAG35730;BAG63167;EAW82370;EAW82371;NP_079472;Q9HAV7 Hs.443723 1679147;1775862;1776883;2121624;2154644;2170348;2178453 RH93089;SHGC-24778;SHGC-24819;SHGC-50566;SHGC-67381;STS-N29453;WI-11590 FLJ25609;HMGE GrpE-like protein cochaperone;OTTHUMP00000115578;grpE protein homolog 1, mitochondrial;mt-GrpE#1 protein-coding HGNC:19696 07550 606173 PROVISIONAL 6481070 GRPEL2P1 GrpE-like 2, mitochondrial (E. coli) pseudogene 1 13 13 89630603 89631018 - 88978349 88978764 - 100874360 ABBA01027261;AL603716;AMYH02028440;NG_032384 pseudo HGNC:41969 INFERRED 5132812 GRPEL2P2 GrpE-like 2, mitochondrial (E. coli) pseudogene 2 X X X q11.2 64264565 64265238 - 63917755 63918428 - 64697875 64698548 - 100129994 ABBA01066923;AL353744;AMYH02039601;NG_022604 pseudo HGNC:41970 INFERRED 5132813 GRPEL2P3 GrpE-like 2, mitochondrial (E. coli) pseudogene 3 7 7 7 q21.3 89110425 89111023 + 94412200 94412838 + 94782888 94783526 + 100129871 ABBA01045781;AC104700;AMYH02016286;CH236949;NG_022570 pseudo HGNC:41971 INFERRED 1342740 GRPEL2 GrpE-like 2, mitochondrial (E. coli) ENCODES a protein that exhibits adenyl-nucleotide exchange factor activity (inferred); chaperone binding (inferred); protein homodimerization activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); protein folding (inferred); protein targeting to mitochondrion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrial inner membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 5 5 5 q32 144806966 144816121 + 148724364 148734146 + 149345414 149354583 + 1580863;6480464;8554872 12477932;14702039;15489334;17207965;18029348;19322201;20877624;21139048;24250222;9694873 134266 B4DFA6;D6RGI6;Q8TAA5 ABBA01026306;AC131025;AK074293;AK091237;AK096445;AK294005;AL704536;AL832325;AMYH02012442;BC036678;BC070090;CH471062;NM_152407 AAH36678;AAH70090;ADQ31967;BAB85040;BAG57367;CAD38619;EAW61786;NP_689620;Q8TAA5 Hs.511816 1674533;2141006;2179102 RH35851;STS-W61302;WI-20933 DKFZp451C205;FLJ23713;FLJ33918;Mt-GrpE#2 OTTHUMP00000160523;OTTHUMP00000223956;OTTHUMP00000223957;grpE protein homolog 2, mitochondrial protein-coding ENSG00000164284 HGNC:21060 17079 VALIDATED 731959 GRPR gastrin-releasing peptide receptor Gastrin-releasing peptide (GRP) regulates numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation and is a potent mitogen for neoplastic tissues. The effects of GRP are mediated through the gastrin-releasing peptide receptor. This receptor is a glycosylated, 7-transmembrane G-protein coupled receptor that activates the phospholipase C signaling pathway. The receptor is aberrantly expressed in numerous cancers such as those of the lung, colon, and prostate. An individual with autism and multiple exostoses was found to have a balanced translocation between chromosome 8 and a chromosome X breakpoint located within the gastrin-releasing peptide receptor gene. [provided by RefSeq, Jul 2008] X X X p22.2 20259707 20289922 + 16141424 16171641 + 16123301 16153518 + 1580863;6480464;8699517;8554872 10620630;11245983;11960700;12220644;12409226;12474049;12477932;12526815;12720295;12771999;14729406;14747448;15361544;15489334;15941862;15967120;16344560;1655761;16754659;17349623;17726264;18240029;18393381;18452185;18483184;18497507;18663369;18676680;18753628;19170196;19204726;19343734;19478282;19631337;19642024;19692168;20211708;20596631;21605611;22248281;22296774;22411014;22431275;22735756;23155231;23443559;23889963;24377816;24958816;7759104;7838118;8391296;8406441;9259269;9674911 2925 AAB27329;P30550;X5D7H2 ABBA01071383;ABBA01071384;ABBA01071385;ABBA01071386;AC004025;AC078993;AF293321;AF293322;AF293323;AK313588;AMYH02038920;AU125660;BC074733;CH471074;KJ534854;KJ534855;M73481;NG_012512;NM_005314;U57365 AAA88050;AAB27329;AAB40612;AAH74733;AAL96377;AHW56494;AHW56495;BAG36357;EAW98909;NP_005305;P30550 Hs.567282 1701738;1701938;1702686;1743581;1745393;2107189;2151753 DXS7978;DXS8274;GDB:345272;GDB:604498;GDB:604552;GDB:604567;GRPR__7550 BB2;GRP-R GRP-preferring bombesin receptor;OTTHUMP00000022983;bombesin receptor 2 APPROVED protein-coding HGNC:4609 02376 305670 REVIEWED 6481272 GRTP1-AS1 GRTP1 antisense RNA 1 q34 100874068 AL136221;BC037976;BF057331;NR_046541;NR_120385 Hs.661837 APPROVED ncrna HGNC:39917 VALIDATED 737598 GRP gastrin-releasing peptide This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. Its preproprotein, following cleavage of a signal peptide, is further processed to produce either the 27 aa gastrin-releasing peptide or the 10 aa neuromedin C. These smaller peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 18 18 18 q21.1-q21.32 53605282 53615885 + 56887400 56898003 + 59220168 59230771 + 1580863;6480464 10657515;11278902;11696365;11906707;11960700;12474049;12477932;12820318;12820319;13679857;14764456;15203211;15489334;1557184;15638385;15664365;15750618;15849504;15899028;16641105;16754659;16909108;16920698;18240029;18289674;18350254;18452185;19086053;19357287;19506400;19907206;20468064;20596631;20945407;21270509;21281799;21415235;21529988;22202166;22261454;22300752;22399443;22411014;23353988;23379566;23608754;23615431;23924923;24039782;24375395;3001723;3003116;3027901;3027902;3211139;6207529;7838118;8008632;8137267;8756537 2922 H0Y5C5;H0YCH3;P07492 AB102889;ABBA01056164;AC067859;AK307264;AMYH02034824;BC004488;BT006803;CH471096;CK903483;K02054;M12511;M12512;M12550;NM_001012512;NM_001012513;NM_002091;W01859;XM_006722442 AAA52610;AAA52611;AAA52612;AAA52613;AAH04488;AAP35449;ABM84377;ABM87222;BAD89418;EAW63091;EAW63092;NP_001012530;NP_001012531;NP_002082;P07492;XP_006722505 Hs.153444 1769080;2182706 D18S1265;STS-K02054 BN;GRP-10;proGRP OTTHUMP00000163646;OTTHUMP00000235893;OTTHUMP00000235894;OTTHUMP00000235895;bombesin;neuromedin C;pre-progastrin releasing peptide;prepro-GRP;preproGRP APPROVED protein-coding ENSG00000134443 HGNC:4605 08845 137260 REVIEWED 2298825 GRXCR1 glutaredoxin, cysteine rich 1 This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010] 4 4 4 p13 43343120 43480521 + 42895283 43032675 + 42893266 43030658 + 7240710;6480464;8554872;8699517 11329013;15815621;19389623;20137778;20301607;23251661;9847074 389207 A8MXD5 AA588868;ABBA01014297;AC098861;AC106896;AC108035;AMYH02009111;BG213384;DT932651;DY654338;NG_027718;NM_001080476 A8MXD5;AAI48673;AAI53210;NP_001073945 Hs.162559 2114808 D4S1393 DFNB25;PPP1R88 OTTHUMP00000218192;glutaredoxin domain-containing cysteine-rich protein 1 APPROVED protein-coding ENSG00000215203 HGNC:31673 613283;613285 REVIEWED 1344190 GRWD1 glutamate-rich WD repeat containing 1 This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012] 19 19 19 q13.33 45814275 45822403 + 48949030 48957164 + 48445773 48453907 + 1580863;6480464 11853319;12429849;12477932;12549820;15467761;15489334;15635413;15885502;16196087;16344560;17041588;17079684;17081983;18029348;18162579;18247557;20431927;21139048;21145461;21906983;21907836;21942715;21963094;21987572;22505724;22939629;22952844;23349634;23402259;23443559;24654937 83743 A0MNN5;M0QX71;Q9BQ67 ABBA01032990;AC008403;AF337808;AK074676;AK131055;AK300225;AK315625;AL713729;AMYH02036299;BC002440;BC036281;BC047351;CH471177;CQ783568;DA200417;DA714522;EF011614;NM_031485 AAH02440;AAK17998;ABK41104;ABM83556;ABM86794;BAC11130;BAG37993;BAG61993;CAD28519;CAF86737;EAW52347;NP_113673;Q9BQ67 Hs.400625 1688488;2132522 RH12000;RH92449 CDW4;GRWD;KIAA1942;RRB1;WDR28 CUL4- and DDB1-associated WDR protein 4;WD repeat domain 28;glutamate rich WD repeat protein GRWD;glutamate-rich WD repeat-containing protein 1;regulator of ribosome biogenesis 1 homolog APPROVED protein-coding HGNC:21270 11013 610597 REVIEWED 1345254 GRN granulin Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 39132112 39140095 + 42422491 42430474 + 44345123 44353106 + 1580863;5509591;5509592;5509606;5509616;5509601;5509604;5509619;5509603;5509588;5509600;5509602;5509781;5509782;5509609;5509590;5509589;5509593;5509612;5509596;6480464;7240710;8554872;8699517 16862116;16983685;18184915;18565828;18855025;19012866;19321167;19557827;19649643;19946692;20142525;20197700;20463744;21107132;21220649;21393509;21613335;21892962;21933710 10079180;10397269;10477733;10715107;10728698;11068878;11549288;11846389;12031912;12477932;12526812;12538450;12588988;12900424;12914763;12931033;1417868;14652816;14702039;14977833;15231748;1542665;15489334;15569995;15653695;1618805;16189514;16533762;16713569;16857791;16862115;16950801;16983677;17110338;17157414;17166276;17202431;17210807;17228326;17261172;17266030;17278999;17291356;17345602;17353379;17371905;17383054;17417739;17436289;17439980;17458552;17522386;17572900;17620546;17698705;17826340;17949857;17950702;17984093;18029348;18157829;18166610;18183624;18192287;18223198;18234697;18245784;18276110;18314228;18322394;18359860;18378771;18392865;18413467;18413474;18442119;18464284;18479928;18543312;18551524;18593276;18654987;18706200;18723384;18723524;18752597;18768919;18771956;18838661;18848708;18955727;19016491;19020205;19049508;19056610;19091059;19101631;19133655;19158106;19179604;19237611;19255408;19343720;19446372;19473366;19487464;19618231;19625741;19632744;19730170;19730171;19795409;19847305;19858458;19863344;19864668;19913121;19938685;19940479;19963041;20020531;20028451;20045477;20054825;20061636;20087814;20142524;20154673;20171924;20215705;20237496;20301334;20301545;20301601;20387302;20479936;20489155;20570546;20628086;20682318;20711061;20798611;20858962;20884628;20930269;20930271;20933034;20947212;20975516;21047645;21078624;21085476;21087763;21123963;21178100;21204008;21212639;21224065;21232819;21258152;21263192;21289198;21319273;21454553;21482928;21645364;21677378;21707777;21753165;21800185;21802097;21813674;21891865;21891869;21942715;21988832;22032330;22045426;22068162;22088468;22127750;22130207;22176685;22194816;22204653;22268729;22280948;22316048;22338605;22348647;22366795;22397762;22491866;22504418;22505994;22509390;22608501;22623979;22647257;22665040;2268320;22761921;22787763;22792281;22797721;22802426;22819134;22859297;22890097;22890101;22945272;22986778;23088713;23158232;23218900;23236149;23317568;23338682;23342160;23364791;23396349;23398167;23402259;23409033;23419701;23455922;23463024;23476101;23478307;23596077;23609919;23684369;23702100;23847387;24005336;24009671;24018267;24070898;24081456;24100384;24120669;24139281;24163370;24186875;24309270;24343233;24368088;24387985;24417980;24457600;24591016;24680777;24709683;24771538;8125298;8471244;8471426;8496151;8619474;8912679;9110174;9826678 2896 K7EJY4;K7EK92;K7EKL3;K7ELY1;K7EM89;K7EMR1;K7ENI2;K7ENN1;K7EPL0;K7EQ05;K7EQA7;K7EQI0;K7EQK6;K7ERM2;P28799 ABBA01028377;AC003043;AF055008;AK000607;AK023348;AK222522;AK296090;AK303830;AMYH02033480;AY124489;BC000324;BC010577;BT006844;CH471178;M75161;NG_007886;NM_002087;X62320;XM_005257253 AAA58617;AAC09359;AAH00324;AAH10577;AAM94026;AAP35490;BAB14535;BAD96242;BAG58844;BAG64777;CAA44196;EAW51599;EAW51600;EAW51601;NP_002078;P28799;XP_005257310 Hs.514220 1712224;1739493;1771931;2129786 D17S1701;G54019;STS-T54360;STS-X62320 CLN11;GEP;GP88;PCDGF;PEPI;PGRN PC cell-derived growth factor;acrogranin;granulin-epithelin;granulins;proepithelin;progranulin APPROVED protein-coding ENSG00000030582 HGNC:4601 00733 138945;607485;614706 REVIEWED 730960 GRM5 glutamate receptor, metabotropic 5 This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 11 11 11 q14.3 85835181 86394276 + 88237256 88796846 - 88504088 89113519 - 1580863;6480464;6907045;8554872 11326300;11850456;11943148;11953448;12119301;12477932;12531512;12531526;12736269;12783878;12786977;14561742;15076751;15158450;15184389;15452121;15745950;15894802;17311919;17627080;17998106;18182392;18337251;18541671;18606955;18991960;19086053;19156168;19340012;19694902;19913121;20036444;20041166;20149785;20379614;20398908;20468064;20628086;21103359;21723923;21890473;21901840;22012869;22032949;22256945;22340009;22543119;22995293;23149219;23152621;23225313;23478188;23524143;23627706;23705503;23804486;24040811;24332449;25003238;7688218;7908515;8532169;8619474;9069287;9110174;9242710;9651375;9808458 2915 A8K5P7;A8MT20;H7C223;P41594 ABBA01011528;ABBA01011529;ABBA01011530;ABBA01011531;ABBA01011532;ABBA01011533;AF052171;AK291362;AMYH02025262;AMYH02025263;AMYH02025264;AMYH02025265;AMYH02025266;AMYH02025267;AP000626;AP001482;AP001828;AP003120;AP006214;AP006215;AW297388;AY608336;BC031602;BC047497;BX282658;CH471185;CR627311;D28538;D28539;DA316590;DR002861;FJ588505;FJ588506;FJ588507;FJ668670;KF455437;NM_000842;NM_001143831;S64316;U79242;XM_006718828;XM_006718829;XM_006718830 AAD13954;AAT37960;ACU31022;ACU31023;ACU31024;ACV89822;BAA05891;BAA05892;BAF84051;EAW59358;EAW59359;NP_000833;NP_001137303;P41594;XP_006718891;XP_006718892;XP_006718893 Hs.147361;Hs.616625 1336231;1648384;1650812;1655527;1660007;1665505;1669292;1669294;1669296;1669298;1669300;1669302;1669510;1669692;1682644;1694612;1713661;1725237;1737165;1737767;1738027;1738157;1748457;1752977;1757385;1760165;1777084;2117690;2130315;2144557;2144559;2144561;2144563;2144565;2144567;2144569;2144571;2144573;2144575;2152832;2162828;2162951;2165415 D11S1109;D11S1367;D11S2309E;D11S2470;D11S2614;D11S3024;D11S3366;D11S3643;D11S3789;G02154;G02157;G02158;G02159;G02171;G02176;G02179;G02180;G02181;G02187;G02188;G02190;G02191;G02198;G02199;G02201;G02204;G02206;G02211;G02314;G02351;G43313;G64931;RH118911;RH120713;RH17467;RH40050;RH78484;SGC30871;SHGC-106865;SHGC-132429;SHGC-144777;SHGC-31451;WI-18462 GPRC1E;MGLUR5;PPP1R86;mGlu5 GRM5 variant 9;OTTHUMP00000165953;OTTHUMP00000165956;OTTHUMP00000165957;metabotropic glutamate receptor 5;metabotropic glutamate receptor 5 variant F;metabotropic glutamate receptor 5 variant G;metabotropic glutamate receptor 5 variant H APPROVED protein-coding ENSG00000168959 HGNC:4597 604102 REVIEWED 1313301 GSC2 goosecoid homeobox 2 Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 2988450 2989742 - 19136504 19137796 - 19148991 19150283 - 1580863;6480464 10822263;22916037;9150167;9441739;9700206 2928 O15499 AC004463;AMYH02038035;CH471176;NM_005315;U96402 AAC39544;EAX03052;NP_005306;O15499 Hs.534318 5492583 UniSTS:481722 GSC-2;GSC-L;GSCL OTTHUMP00000205447;goosecoid-like;homeobox protein goosecoid-2;homeobox protein goosecoid-like APPROVED protein-coding HGNC:4613 03506 601845 REVIEWED 1351273 GSDM2 gasdermin 2 432402 HGNC:25218 2301277 GRXCR2 glutaredoxin, cysteine rich 2 This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014] 5 5 5 q32 141319416 141332655 - 145239204 145299816 - 145859733 145872968 - 6480464 15372022;24619944 643226 A6NFK2 ABBA01026346;AC011359;AMYH02012402;CH471062;DN831963;NG_034161;NM_001080516 A6NFK2;EAW61855;NP_001073985 Hs.570895 DFNB101 GRXCR1-like protein;Glutaredoxin domain-containing cysteine-rich protein 1-like protein;OTTHUMP00000224029;glutaredoxin domain-containing cysteine-rich protein 2 protein-coding ENSG00000204928 HGNC:33862 615762;615837 REVIEWED 1344122 GSDM3 gasdermin 3 432403 HGNC:30789 736937 GSC goosecoid homeobox This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008] 14 14 14 q32.1 75290663 75292602 - 95234560 95236499 - 94768223 94770162 - 704404;6480464;8699517;7240710;8554872 12477932;12642491;15014966;15489334;15761153;17142318;18074379;19875614;19935299;20195123;21294870;22178155;24290375;7916327;9417125 145258 P56915 ABBA01030410;AL121612;AMYH02029786;AY177407;BC063580;CH471061;NG_034111;NM_173849 AAH63580;AAO18645;EAW81594;NP_776248;P56915 Hs.440438 SAMS OTTHUMP00000244604;homeobox protein goosecoid APPROVED protein-coding ENSG00000133937 HGNC:4612 15928 138890;602471 REVIEWED 1347779 GSDMA gasdermin A INVOLVED IN apoptotic process; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN perinuclear region of cytoplasm; INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid 17 17 17 q21.1 34779300 34794093 + 38119226 38134019 + 39962973 39977831 + 6480464;8554872 10967128;12477932;12883658;14702039;15010812;17350798;17471240;19051310;19820697;20139978;20860503;21139048;21337730;21546069;21738480;22037903;23128233;24241537;24244333;24388013;24457600 284110 J3KRG2;Q96QA5 AA826386;AB093591;ABBA01031851;AC090844;AF307953;AK096439;AMYH02033390;BC109197;CH471152;NM_178171;XM_006721832 AAI09198;AAL14426;BAC04790;BAC75636;EAW60624;NP_835465;Q96QA5;XP_006721895 Hs.448873 1342259;5015619;5018953;5022200;5037552;5125154 D11S3114;D17S1814;D17S651;D8S2279;G42236;L18426 FKSG9;FLJ39120;GSDM;GSDM1;MGC129596 gasdermin 1;gasdermin-1;gasdermin-A protein-coding ENSG00000167914 HGNC:13311 17081 611218 VALIDATED 1322002 GRSF1 G-rich RNA sequence binding factor 1 The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q13 69038501 69062624 - 71681499 71705627 - 70815782 70839910 - 1580863;6480464 10359774;12239318;12477932;14702039;18029348;20020773;20186120;20877624;21139048;21145461;21890473;21906983;22505724;23000965;23473033;23473034;24250222;24338975;24654937;24816145;8036161;8751379 2926 F5H5I6;H0Y8R1;H0YAK1;H0YAM1;Q12849 ABBA01022941;ABBA01022942;ABBA01022943;ABBA01022944;AC021989;AI151431;AK023187;AK055499;AK056891;AK090755;AK094806;AK095799;AK097055;AK124124;AK124242;AK127161;AK294612;AK296287;AK298883;AMYH02009428;AV739732;BC040485;BC043201;CH471057;DN990192;NM_001098477;NM_002092;U07231;XM_005265681;XM_005265685 AAC95399;AAH40485;AAY40942;BAC03513;BAC86863;BAG51526;BAG51822;BAG52934;BAG53131;BAG53414;BAG54012;BAH11824;BAH12303;BAH12895;EAX05631;EAX05632;EAX05633;EAX05634;NP_001091947;NP_002083;Q12849;XP_005265738;XP_005265742 Hs.309763 1647868;1769694;2144103;2185416;5016478;5022450;5022578;5022588 D10S275;D1S1423;D4S2668;D5S1597E;GDB:434012;RH17982;SHGC-50636;SHGC-68211 FLJ13125;GRSF-1 G-rich sequence factor 1;OTTHUMP00000219148;OTTHUMP00000219149;OTTHUMP00000219150;OTTHUMP00000219151 APPROVED protein-coding ENSG00000132463 HGNC:4610 07276 604851 REVIEWED 1319426 GRTP1 growth hormone regulated TBC protein 1 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; cadmium atom 13 13 13 q34 94805016 94846427 - 113978505 114018463 - 113324164 113364148 - 6480464 11564724;12477932;18187620;19077034;21890473;22139419;23000965;8889548 79774 Q5TC63 AB449887;ABBA01019865;ABBA01019866;AK026127;AK300897;AK309959;AL136221;AMYH02028741;AMYH02028742;AW243250;BC033071;BC062461;BC080640;BC112123;BC112125;BC143682;BQ689859;CB242314;CH471085;CS300716;CX788865;NM_001286732;NM_001286733;NM_024719;XM_005268333;XM_005268334;XM_006719979;XM_006719980 AAH33071;AAH62461;AAH80640;AAI12124;AAI12126;BAB15368;BAG62536;BAH16630;CAK32380;EAX09204;EAX09205;EAX09206;NP_001273661;NP_001273662;NP_078995;Q5TC63;XP_005268390;XP_005268391;XP_006720042;XP_006720043 Hs.745043 1737449;1737469;1856629;5014053;5020948;5022578;5109281;5118576;5122090 D11S3430;D13S1009;D13S1020;D1S1423;D1S1425;D1S3693;G35510;RH44436;STS-T40971 FLJ22474;MGC138328;MGC138330;TBC1D6 OTTHUMP00000018752;TBC1 domain family member 6;TBC1 domain family, member 6;growth hormone-regulated TBC protein 1 protein-coding ENSG00000139835 HGNC:20310 17080 VALIDATED 1604378 GSE1 Gse1 coiled-coil protein ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 16 16 16 q24.1 69950111 70012922 + 85203152 85709812 + 85169546 85676206 + 6480464;8554872 12477932;12493763;15231747;15302935;15489334;16079794;16169070;16189514;16341674;17043677;18391013;19060904;19322201;19416867;21139048;21258344;21890473;22354994;22939629;23752268;24529757;24722188;24816145;8724849;8889548 23199 C9JLW9;H0Y613;H7C3B5;Q14687 ABBA01034274;ABBA01034275;ABBA01034276;AC092127;AC092275;AC092377;AC123908;AC133540;AC137492;AC147772;AK127344;AK308612;AMYH02032591;AMYH02032592;AMYH02032593;AMYH02032594;AMYH02032595;AW500000;BC000753;BC009854;BC037556;BG288870;BM451214;BM747744;BM979951;BQ214916;CH471114;D80004;GD138010;H09100;HY041236;HY060424;KC877610;KC877616;KC877620;KC877623;KF456216;NM_001134473;NM_001278184;NM_014615;XM_005255859;XM_005255860;XM_005255861;XM_005255862;XM_005255863;XM_005255864;XM_005255865;XM_006721172;XM_006721173 AAH00753;AAH09854;AAH37556;BAA11499;BAG54489;EAW95445;EAW95446;EAW95447;EAW95448;EAW95449;NP_001127945;NP_001265113;NP_055430;Q14687;XP_005255916;XP_005255917;XP_005255918;XP_005255919;XP_005255920;XP_005255921;XP_005255922;XP_006721235;XP_006721236 Hs.461647 1661252;1685361;1762967;1858074;2138965;2164169;2164171 A002B17;G19885;RH64936;SHGC-146718;SHGC-61045;SHGC-61075;WI-16844 KIAA0182 Gse1 coiled-coil protein homolog;OTTHUMP00000175005;OTTHUMP00000201345;OTTHUMP00000201346;OTTHUMP00000201347;genetic suppressor element 1 APPROVED protein-coding ENSG00000131149 HGNC:28979 11066 VALIDATED 1346441 GSDMB gasdermin B This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Sep 2009] 17 17 17 q12 34721105 34735163 - 38060848 38074903 - 39904595 39918784 - 6480464 11483580;12477932;12883658;14702039;15010812;15342556;16712791;17350798;17611496;18038310;19029000;19051310;19068216;19133921;19430480;19732864;19760754;20228799;20378605;20601676;20639880;20816195;20860503;21297633;21337730;21738480;21804549;21832049;21988832;22295569;22370936;22732088;23000144;23128233;23817569;23817570;24066901;24241537;24315451;24848122 55876 B2CM71;B2CM72;B2CM73;J3QLF0;Q8TAX9 ABBA01031852;AC090844;AF119884;AF258572;AK000409;AK057588;AK296607;AMYH02033389;AX405931;BC025682;BP366854;BX538068;BX647700;CA488357;CB136981;CH471152;EU526753;EU526754;EU526755;EU526756;NG_015804;NM_001042471;NM_001165958;NM_001165959;NM_018530;XM_005257508;XM_005257510;XM_005257511;XM_006721974 AAF69638;AAG23775;AAH25682;ACB37349;ACB37350;ACB37351;ACB37352;ACE86971;ACE87661;BAA91146;BAG59219;CAD35038;CAD97998;EAW60612;EAW60613;EAW60614;EAW60615;NP_001035936;NP_001159430;NP_001159431;NP_061000;Q8TAX9;XP_005257565;XP_005257567;XP_005257568;XP_006722037 Hs.306777 1659012;1762897;1783566;1850388;2172369;5037552 D8S2279;RH12559;SHGC-146654;SHGC-154938;STS-N38810;WI-20984 GSDML;PP4052;PRO2521 OTTHUMP00000164329;OTTHUMP00000164330;OTTHUMP00000164331;OTTHUMP00000164332;OTTHUMP00000227622;gasdermin-B;gasdermin-like protein APPROVED protein-coding ENSG00000073605 HGNC:23690 17082 611221 REVIEWED 1316349 GSDMD gasdermin D Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009] 8 8 8 q24.3 140945843 140955486 + 144635383 144645232 + 143553387 143563062 + 737633;6480464 12477932 14702039;15289881;15489334;15592455;16421571;17350798;19051310;21139048;21890473;21906983;23000965;24816145 79792 A8K702;E9PIB2;E9PNZ0;E9PQ48;E9PQR9;E9PRF1;G3V1A6;H0YDB0;P57764 ABBA01005249;AC067930;AF318341;AK022212;AK093858;AK096216;AK123985;AK127941;AK291817;AK303615;AMYH02018943;AY008304;BC008904;BC069000;CH471162;DC398191;NM_001166237;NM_024736;XR_428382;XR_428383;XR_428384;XR_430687;XR_430688;XR_430689 AAG22861;AAH08904;AAH69000;AAL55848;BAB13986;BAC87201;BAF84506;BAG53233;BAG53989;BAG64625;EAW82242;EAW82243;EAW82244;EAW82245;EAW82246;EAW82247;EAW82248;NP_001159709;NP_079012;P57764 Hs.118983 2121986;2159684 D8S2072;WI-8705 DF5L;DFNA5L;FKSG10;FLJ12150;GSDMDC1 OTTHUMP00000228549;OTTHUMP00000228550;OTTHUMP00000228551;gasdermin domain containing 1;gasdermin domain-containing protein 1;gasdermin-D APPROVED protein-coding ENSG00000104518 HGNC:25697 11014 REVIEWED 1604995 GSG1L GSG1-like INVOLVED IN regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN asymmetric synapse (inferred); cell junction (inferred); integral component of membrane (inferred); INTERACTS WITH paracetamol; 3,4-methylenedioxymethamphetamine (ortholog); benzo[a]pyrene (ortholog) 16 16 16 p12.1 26576214 26853626 - 27798850 28074830 - 27787529 28063509 - 6480464;8554872 12477932;12975309;15489335;16344560;22813734;23251661 146395 B3KY67;H3BNP0;Q6UXU4 ABBA01017162;ABBA01017163;ABBA01017164;ABBA01017165;ABBA01017166;AC008732;AC009030;AC130449;AI418246;AK128775;AMYH02031773;AMYH02031774;AMYH02031775;AY302134;AY358206;BC016460;CH471145;CV024949;DB306756;KC877604;NM_001109763;NM_144675;XM_005255133;XM_005255134 AAH16460;AAP57626;AAQ88573;ABM84515;ABM85880;BAG54729;EAW55740;EAW55741;EAW55742;NP_001103233;NP_653276;Q6UXU4;XP_005255190;XP_005255191 Hs.91910 1338046;1681764;1727325;1731655;1733216;1736580;1743279;1743281;1756591;1764145;1766131;1771626;1783440;1852187;5494082 AU048399;D16S2573E;D16S272;D16S288;D16S478;D16S690;G63070;GDB:1318348;GDB:314095;GDB:314103;RH91752;SHGC-143628;SHGC-147786;SHGC-149510;SHGC-171826 MGC18079;PRO19651 GSG1-like protein;KTSR5831;OTTHUMP00000162454;germ cell-specific gene 1-like protein protein-coding ENSG00000169181 HGNC:28283 14464 VALIDATED 1604809 GSAP gamma-secretase activating protein Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010] 7 7 7 q11.23 71640697 71746347 - 76940068 77045719 - 77310751 77416402 - 6480464;8554872 12477932;12690205;14702039;16341674;20811458;21718343;22681044;23209290 54103 A4D1B5;B7ZL33;C9JRG7;H7C0Q7 ABBA01058001;ABBA01058002;ABBA01058003;ABBA01058004;ABBA01058005;ABBA01058006;AC004921;AC073635;AK026696;AK026747;AK027188;AK126364;AL079277;AL079297;AL834358;AMYH02016096;AMYH02016097;BC101499;BC110797;BC143549;BM842423;CH236949;DB498013;NM_017439;XM_005250446;XM_005250448;XM_005250449;XM_005250450;XR_242248 A4D1B5;AAI01500;AAI43550;CAB45152;CAB45193;CAD39023;EAL24201;NP_059135;XP_005250503;XP_005250505;XP_005250506;XP_005250507 Hs.186649 1683727;1715929;2136329;2145278;2163232 A003P29;GDB:1317528;RH122700;RH76553;SHGC-56107 DKFZp667B242;MGC126548;PION OTTHUMP00000197684;gamma-secretase-activating protein;pigeon homolog APPROVED protein-coding ENSG00000186088 HGNC:28042 18671 613552 VALIDATED 1353864 GSK1 glycogen synthase kinase 1 2929 HGNC:4614 1345279 GSK2 glycogen synthase kinase 2 2930 HGNC:4615 731783 GSK3A glycogen synthase kinase 3 alpha This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011] 19 19 19 q13.2 39535133 39547532 - 42734338 42746736 - 42230186 42242584 - 1580863;2306093;6480464;6484113 17530463 10448973;11035810;11481324;11500362;11509608;11749387;11884598;12054501;12086949;12379450;12477932;12665592;12675919;12761548;12890758;14550568;14563837;14635195;14645548;15057824;15194499;15302935;15324660;15361837;15469820;15489334;15592455;15631989;15678105;16365045;16371461;16446437;16537926;16543145;16543730;16611631;16757548;16806170;16912034;16934436;16984735;16987514;17052453;17139249;17158447;17192257;17325032;17505062;17569761;17609434;18042454;18285345;18450971;18500637;18516299;18826950;18829575;18955053;19131971;19136008;19142874;19156168;19323791;19336475;19366350;19464003;19507191;19656851;19705135;19706605;19759537;19995607;20080974;20113358;20368287;20371704;20541704;20668436;20831597;20920357;21139048;21220517;21255011;21320285;21436692;21576335;21718540;21775285;21890473;21896753;22022450;22065737;22326953;22328534;22384031;22505724;22539113;22539723;22658458;22939624;23000965;23192081;23243017;23352529;23369789;23602568;23621307;23798682;23896637;23959799;24035907;24060635;24803542;24816145;24879152;7706316;7715701;7931292;8404858;8524413;8725894;9468292;9735171;9809441 2931 A8MT37;P49840 ABBA01040841;ABBA01040842;AC006486;AMYH02036143;AMYH02036144;BC027984;BC051865;CH471126;CR749620;D63424;KC877743;KF456580;L40027;NM_019884 AAA62432;AAD11986;AAH27984;AAH51865;ABM81940;ABM84255;ABM85121;ABM87623;BAA23608;CAH18414;EAW57114;EAW57115;NP_063937;P49840 Hs.466828 1655646;1734654;1734686;2144266;2176700;5015961;5126917;5126919 D15S1477;D19S656E;D19S688E;RH11670;RH45593;RH78012;SHGC-32066;STS-T55612 DKFZp686D0638 GSK-3 alpha;OTTHUMP00000198366;OTTHUMP00000198367;OTTHUMP00000198368;glycogen synthase kinase-3 alpha;serine/threonine-protein kinase GSK3A APPROVED protein-coding ENSG00000105723 HGNC:4616 06002 606784 VALIDATED 1319081 GSDMC gasdermin C ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; microtubule organizing center; mitochondrion; INTERACTS WITH 1-nitropyrene; 3-methylcholanthrene; silicon dioxide 8 8 8 q24.21 126938559 126977251 - 130760442 130799134 - 129748196 129786888 - 1580863;6480464;8554872 11223543;12477932;15489334;16344560;17350798;18029348;19051310;19270707;20881960;21738478;21738480;23393555 56169 Q9BYG8;Q9H1C8 AB042405;ABBA01037970;ABBA01037971;AC022849;AJ245876;AMYH02018779;BC035321;BC063595;CH471060;DA437012;NM_031415 AAH35321;AAH63595;BAB40331;CAC21571;EAW92124;NP_113603;Q9BYG8 Hs.133244 MLZE OTTHUMP00000227707;gasdermin-C;melanoma-derived leucine zipper, extra-nuclear factor;melanoma-derived leucine zipper-containing extranuclear factor protein-coding ENSG00000147697 HGNC:7151 12222 608384 VALIDATED 1349905 GSM1 geniospasm 1 ASSOCIATED WITH Geniospasm (inferred) 7240710 9382105 2933 1337774;1338278;1342113;7185144 D9S175;D9S1806;D9S1837 HGNC:4619 190100 1315222 GSG1 germ cell associated 1 ENCODES a protein that exhibits RNA polymerase binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 12 12 12 p13.1 18385909 18405482 - 13236471 13256659 - 13083537 13103725 - 6480464;8554872 11181995;12477932;12975309;14702039;16303743;16344560;20379614;21697133;9337410 83445 F1T0A0;F1T0A1;F5GYH0;F5H0V9;F5H134;G3XAB9;Q2KHT4 AB593019;AB593020;ABBA01067857;AC023790;AC079628;AK027894;AK058045;AK075288;AK075311;AK075322;AMYH02026068;AW959540;AY358513;BC001796;BC033854;BC112896;BG721146;BI827923;BI830401;BI831369;CH471094;CQ783930;DA370135;DB456105;NM_001080554;NM_001080555;NM_001206842;NM_001206843;NM_001206845;NM_031289;NM_153823;XM_005253493;XM_005253495;XM_005253497 AAH01796;AAH33854;AAI12897;AAQ88877;ABM83007;ABM86200;BAB55437;BAB71638;BAC11524;BAC11540;BAC11548;BAJ83974;BAJ83975;CAF86930;EAW96299;EAW96300;EAW96301;EAW96302;EAW96303;NP_001074023;NP_001074024;NP_001193771;NP_001193772;NP_001193774;NP_112579;NP_722545;Q2KHT4;XP_005253550;XP_005253552;XP_005253554 Hs.240053 1698030;1699848;2107193;2130673 CHLC.GAAT11C09;GSG1__7554;RH102546;RH103531 MGC111023;MGC3146 OTTHUMP00000196445;OTTHUMP00000196446;OTTHUMP00000239418;OTTHUMP00000239419;OTTHUMP00000239420;OTTHUMP00000239422;OTTHUMP00000239455;germ cell-specific gene 1 protein protein-coding ENSG00000111305 HGNC:19716 11015 VALIDATED 1353091 GSG2 germ cell associated 2 (haspin) ENCODES a protein that exhibits ATP binding; histone kinase activity (H3-T3 specific); protein kinase activity; INVOLVED IN histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore; intracellular signal transduction; mitotic sister chromatid cohesion; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; nucleus; spindle; INTERACTS WITH (-)-demecolcine; aflatoxin B1; calcitriol 17 17 17 p13 3638895 3641691 + 3627197 3629993 + 3723903 3726699 + 1580863;6480464;8554872 11228240;11311556;12477932;14702039;15489334;15681610;16565220;17084365;17314511;18029348;19910498;19997740;20237496;20705812;20929775;21397507;21658950;22623531;23071152;24250222 83903 A0PJ70;Q8TF76 AB039834;ABBA01054743;AC116914;AF289865;AK056691;AK292715;AMYH02032808;BC016626;BC036181;BC047457;BC050662;CH471108;NM_031965 AAH16626;AAH47457;AAK30300;BAB21938;BAB71255;BAF85404;EAW90481;NP_114171;Q8TF76 Hs.534059 5014023;5014051;5015619;5022200;5022578;5037552 D11S3114;D13S1553;D1S1423;D8S2278;D8S2279;L18426 H-haspin;HASPIN;OTTHUMP00000115873;germ cell-specific gene 2 protein;haploid germ cell-specific nuclear protein kinase;serine/threonine-protein kinase haspin protein-coding ENSG00000177602 HGNC:19682 17083 609240 VALIDATED 1318256 GSKIP GSK3B interacting protein This gene encodes a protein that is involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-catenin and cyclin D1, and it regulates the beta-catenin/N-cadherin pool. The encoded protein contains a GSK3-beta interacting domain (GID) in its C-terminus, which is similar to the GID of Axin. The protein also contains an evolutionarily conserved RII-binding domain, which facilitates binding with protein kinase-A and GSK3-beta, enabling its role as an A-kinase anchoring protein. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] 14 14 14 q32.2 76901748 76909294 + 96829789 96853627 + 96363452 96387290 + 6480464 11042152;12477932;12508121;14702039;15489334;16981698;17353931;19830702;20007971;20043192;20368287;21328310;21988832;23455922;23602568;23824909 51527 G3V368;G3V4I5;Q9P0R6 ABBA01048595;AF151044;AK000796;AK094654;AK314423;AL359240;AMYH02029803;BC004818;CH471061;DA488110;HY019704;HY051680;HY108584;NM_001271904;NM_001271905;NM_001271906;NM_016472;W04717 AAF36130;AAH04818;BAA91380;BAG52902;EAW81634;EAW81635;NP_001258833;NP_001258834;NP_001258835;NP_057556;Q9P0R6 Hs.4104;Hs.745067 1699006;1778434 D14S1158;RH103074 C14orf129;HSPC210;MGC4945 GSK3-beta interaction protein;GSK3beta interaction protein;OTTHUMP00000245995;OTTHUMP00000245998;OTTHUMP00000245999 APPROVED protein-coding ENSG00000100744 HGNC:20343 16601 REVIEWED 1603983 GSN-AS1 GSN antisense RNA 1 9 9 9 q33.2 94692223 94692846 - 124043046 124047808 - 121280768 121285530 - 15164053 57000 Q9NRJ2 ABBA01016233;AF220263;AL513122;AMYH02021579;CH471090;NR_103560 AAF89164;EAW87492;Q9NRJ2 Hs.522373 5014023;5022425;5022651 D11S2921;D13S1553;D22S296 C9orf31;MOST2 APPROVED ncrna ENSG00000235865 HGNC:23372 PREDICTED 1354196 GSPT2 G1 to S phase transition 2 This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010] X X X p11.22 56241885 56244732 - 51486481 51489328 + 51743385 51746232 + 1580863;6480464;6907045 10358005;10575220;12354098;12477932;14685257;14702039;15987998;16344560;16452507;16754297;18264098;18447585;19417105;21726813;21832049;21890473;21906983;22505724;22863883;22939629;24569073;24816145;9712840 23708 Q8IYD1 ABBA01059976;AC234030;AC247046;AI191874;AJ251548;AK001303;AK023155;AK298868;AL929101;BC036077;BF514488;CH471230;DA712335;DB173006;NG_016857;NM_018094 AAH36077;BAA91612;BAG60988;CAB91089;EAW62898;NP_060564;Q8IYD1 Hs.59523 1686624;1739951;1858546;2107195 DXS7578;GSPT2__6673;RH26759;RH47573 FLJ10441;GST2;eRF3b OTTHUMP00000023301;eukaryotic peptide chain release factor GTP-binding subunit ERF3B;eukaryotic peptide chain release factor subunit 3b APPROVED protein-coding ENSG00000189369 HGNC:4622 02334 300418 REVIEWED 1344503 GSPT1 G1 to S phase transition 1 ENCODES a protein that exhibits poly(A) RNA binding; translation release factor activity; INVOLVED IN protein methylation; translational termination; PARTICIPATES IN mRNA decay pathway; INTERACTS WITH (-)-demecolcine; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2-amino-2-deoxy-D-glucopyranose 16 16 16 p13.1 12136295 12184521 - 11961985 12010519 - 11868128 11916662 - 1580863;6480464;6907045 10358005;10493829;12477932;12489690;12865429;14685257;14702039;15326224;1574740;15908960;15987717;15987998;16344560;16452507;16582619;16713569;17562865;17577209;17700517;18083835;18256688;18423202;18539146;19165527;19322201;19417104;19424636;19963113;20418951;20562859;21139048;21693764;21726813;21890473;21906983;21988832;22101789;22379092;22505724;22863883;22939629;23019593;23054082;23862649;24569073;24816145;2511002;2841115;8889548;9620853;9712840;9928949 2935 B2RCT6;H3BMT9;H3BR35;H3BSV8;P15170;Q7KZX8 ABBA01006834;ABBA01006835;ABBA01006836;AC007216;AK095367;AK095483;AK096386;AK290382;AK315267;AMYH02031484;AMYH02031485;AMYH02031486;AMYH02031487;AMYH02031488;AMYH02031489;AU132091;BC008391;BC009503;BM666324;BT006722;CH471112;DC384910;NM_001130006;NM_001130007;NM_002094;U95742;X17644;XM_005255274;XM_005255275 AAB67250;AAH09503;AAP35368;BAF83071;BAG37683;CAA35635;EAW85130;EAW85131;EAW85132;NP_001123478;NP_001123479;NP_002085;P15170;XP_005255331;XP_005255332 Hs.528780 1651768;1658295;1668528;1687439;1690466;1691178;1700980;1742187;1846534;2158985;2160510;2165863;2219792;5015861;5022425;5093126;7185938 A009H09;D10S16;D16S2537E;D22S296;G32536;GDB:193185;GSPT1__6672;RH104117;RH65124;RH69294;RH93394;RH93725;SHGC-52683;SHGC-60753;SHGC-61179;WI-19180 551G9.2;ETF3A;FLJ38048;FLJ39067;GST1;eRF3a G1 to S phase transition protein 1 homolog;eukaryotic peptide chain release factor GTP-binding subunit ERF3A;eukaryotic peptide chain release factor subunit 3a protein-coding ENSG00000103342 HGNC:4621 00753 139259 VALIDATED 8661332 GSTA10P glutathione S-transferase alpha 10, pseudogene 6 6 6 p12.2 54399562 54417331 - 52737812 52755596 - 52873014 52890798 - 12042665 647177 ABBA01050547;AL121969;AL590363;AMYH02013739;NG_029176 GSTAP2 pseudo HGNC:49904 INFERRED 732221 GSR glutathione reductase This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010] 8 8 8 p21.1 29494968 29543967 - 30535578 30585486 - 30678061 30727969 - 1580863;1600697;1600704;1600708;1625122;6480464;6907045;7257559;7257560;7257562;7257532;7257587;7257577;7257547;7257555;7257585;7257550;7257558;7257584;7257548;7257573;7257582;8699517;7240710 12824952;12885594;15452363;16338763;16670437;17078987;17198913;18312938;1870354;19107871;20181004;20187988;22286819;22540111;23554813;23626958;6463365;7896613;947404 10708558;11204445;11273669;11710935;12095224;12447480;12477932;12516882;12533953;12630007;12826156;12838767;12838770;12901426;14637279;15149466;15489334;15592455;15978628;16009940;16169070;16236267;16341674;16421571;16424062;16868544;17185460;17206382;17601350;18341267;18638483;18977241;19056867;19124506;19322201;19377255;19527700;19560448;19806191;19896490;19913121;20200426;20379614;20485444;20586645;20628086;20628807;20877624;21139048;21417634;2185014;21890473;21906983;21988832;22089180;22863883;22939629;22944692;23000965;2306116;23637325;23770363;2379581;24250222;24654937;302667;3656429;6822532;7060551;7334521;7663973;8626496;8889548;9151953;9174360;923580;9546215 2936 E5RI06;H0YC68;P00390;V9HW90 AB519179;AB519180;AB519181;ABBA01023658;ABBA01023659;ABBA01023660;AC009314;AC103959;AF228703;AF228704;AMYH02017716;AMYH02017717;AMYH02017718;AY338490;BC035691;BC069244;BM148117;BM478942;BM838919;CA944703;CH471080;FJ224321;NG_027719;NM_000637;NM_001195102;NM_001195103;NM_001195104;X15722;X54507 AAF37572;AAF37573;AAF37574;AAH69244;AAP88037;ACI46013;BAI43437;BAI43438;BAI43439;CAA33744;CAA38367;EAW63442;EAW63443;EAW63444;EAW63445;NP_000628;NP_001182031;NP_001182032;NP_001182033;P00390 Hs.271510 1674879;1788330;2112046;2112052;2112074;2112290;2128387;2128389;2129869;2141616;2155236;5022322;5091344 A006C09;A008S12;D11S2560;D8S2172;D8S2178;D8S2206;D8S2240;G20694;G67468;RH71277;WI-13416;WI-21247;WI-21746 GR;HEL-75;MGC78522 GRase;OTTHUMP00000225449;OTTHUMP00000225451;epididymis luminal protein 75;glutathione reductase, mitochondrial APPROVED protein-coding ENSG00000104687 HGNC:4623 00704 138300 REVIEWED 8661331 GSTA11P glutathione S-transferase alpha 11, pseudogene 6 6 6 p12.2 54374471 54396877 - 52712235 52735157 - 52847437 52870359 - 12042665 647175 ABBA01050547;AL590363;AMYH02013739;NG_029175 GSTAP3 pseudo HGNC:49905 INFERRED 1346375 GSN gelsolin The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q33 94678898 94743628 + 124030380 124095122 + 121268102 121332844 + 1599858;1599864;1599866;1599869;1599872;1599873;1580863;6480464;6484113;7240710;8554872;8699517 14574581;14588109;2175344;2829631;2848627;8895730 10210201;10329371;10521462;10583954;10793131;10802062;10809769;10945978;11039896;11093254;11171090;11577104;11733011;11753432;11925941;12027462;12270712;12460571;12477932;12578912;12592377;12601813;12613021;12655044;12665801;12732734;12752443;12833632;12941811;12966145;1311149;1315718;1321812;1322359;1338910;14527664;14527665;14530271;14563843;14596804;14652020;14702039;14718574;15033777;15174051;15213223;15215896;15281090;15310273;15377282;15489334;15526166;15527423;15538717;15604093;15922735;16008344;16169070;16217750;16300736;16344560;16475811;16526095;1652889;16556605;1658654;16882345;17130841;17178161;17254575;17258204;17353931;17373842;17534828;17556051;17620599;17720986;17982131;18204200;18584046;18656242;18704746;18723680;18802097;18822171;18848913;19002257;19056867;19246681;19389844;19465002;19549824;19561443;19601795;19625752;19666512;19805454;19883430;19904968;19956804;20093811;20308691;20379614;20473970;20740538;20810916;20937821;21107322;21139048;21182205;21389683;21498516;2153578;2157434;2176481;21786170;21798243;21801713;21826592;21828045;21890473;21906983;21940962;21997591;22069445;22190510;22340557;22552326;22622774;22633459;22643940;22706076;22814255;22886630;22927998;22939629;22952982;23167427;23204381;23324580;23418544;23536558;23537643;23575248;23750785;23862649;23874603;23925487;24047347;24122723;24239294;24816145;25015289;2831714;3020431;6092370;6282935;7550233;7849017;7868127;8310295;8395021;8599675;8703941;9003812;9109384;9164868;9323209;9671712;9819354 2934 B7Z4U6;P06396;Q5T0H7;Q5T0H8;Q5T0H9;Q5T0I0;Q5T0I1 ABBA01016233;ABBA01016234;AI742454;AK092797;AK096280;AK125819;AK295201;AK295572;AK297870;AK299453;AK300631;AK304629;AK304675;AK307859;AK315494;AL049930;AL513122;AL832070;AMYH02021579;BC017491;BC026033;BU151663;BX647999;CH471090;DA294394;DA394782;DA450851;DA823796;DB170452;DB250757;DC316173;DC341948;DC370937;DC378873;NG_012872;NM_000177;NM_001127662;NM_001127663;NM_001127664;NM_001127665;NM_001127666;NM_001127667;NM_001258029;NM_001258030;NM_198252;X04412;XM_005251940;XM_005251943;XM_005251944;XM_005251945;XM_006717075;XM_006717076;XM_006717077;XM_006717078;XM_006717079 AAH17491;AAH26033;ABM83113;ABW03494;BAG37878;BAG52611;BAG53247;BAG54252;BAH12010;BAH12109;BAH12682;BAH13037;BAH13318;BAH14228;BAH14236;CAA28000;CAH10407;EAW87489;EAW87490;EAW87491;NP_000168;NP_001121134;NP_001121135;NP_001121136;NP_001121137;NP_001121138;NP_001121139;NP_001244958;NP_001244959;NP_937895;P06396;XP_005251997;XP_005252000;XP_005252001;XP_005252002;XP_006717138;XP_006717139;XP_006717140;XP_006717141;XP_006717142 Hs.522373 1652177;1710050;1745269;1760135;1790343;1847766;2116856;2123176;2130412;2130582;2165435;2176378;2184188;2191459;5110950 D9S1050E;D9S1953;D9S323;G10520;GDB:597556;GSN;MARC_23632-23633:1027531903:1;RH17399;RH66047;SHGC-132035;SHGC-37121;SHGC-82301;STS-AA029453;STS-X04412;WI-18229 ADF;AGEL;DKFZp313L0718 OTTHUMP00000022011;OTTHUMP00000022014;OTTHUMP00000162202;actin-depolymerizing factor;brevin APPROVED protein-coding ENSG00000148180 HGNC:4620 00674 105120;137350 REVIEWED 8661461 GSTA12P glutathione S-transferase alpha 12, pseudogene 6 6 6 p12.2 54291173 54304236 - 52630078 52643153 - 52765280 52778355 - 12042665 647169 ABBA01050548;AL109918;AMYH02013736;NG_022299 GSTAP5 pseudo HGNC:49906 INFERRED 1349200 GSTA1 glutathione S-transferase alpha 1 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008] 6 6 6 p12.1 54317257 54329719 - 52656178 52668664 - 52791380 52803866 - 1580863;1641938;5490988;6480464;6907045 17197701;20374258 10053036;10213291;11152686;11535243;11550208;11668220;11692074;11747461;11851347;11931663;12087351;12093480;12139976;12206662;12211029;12447480;12473455;12477932;12516103;12524083;12871945;1330133;14690442;15128049;15182170;15202795;1530570;15319294;15489334;15525789;15616829;15746160;15757902;15797627;15808404;15893769;15900282;15952767;16116487;16190865;16280386;16365014;16599007;16624829;16786188;16865249;17021248;17071629;17086718;17197702;17207965;1731620;17333241;17374652;17425746;17601350;17631926;17644396;17716224;17899366;18065725;18066575;18161889;18186040;18214047;18224491;18300949;18414193;18430527;18476723;18496131;18635758;18641537;18644106;18784548;18791061;18854779;18977241;18992148;19027952;19056867;19062541;19076156;19343046;19376514;19448608;19491810;19515364;19584821;19618965;19639209;19696793;19786980;19789190;19896490;19902075;19953622;19959275;20032816;20056632;20100551;20102361;2018473;20200426;20207535;20216541;20237496;20331903;20367187;20368715;20377137;20391138;20437058;20529827;20672371;20833278;21093063;21163259;21169260;21530062;21530499;21749698;21832049;21844655;21988832;22002059;22040239;22079734;22475179;22633257;22697302;22893351;22906494;22959778;22993865;23251616;23292236;23394311;23460799;23570881;23647087;23649628;23650189;23731957;23824909;24075358;24192117;24215845;24276031;24423050;2604726;3031680;3036131;3138230;3678589;3800996;7888077;8185623;8242618;8307579;8331657;8431482;8591048;8598105;8663064;8889548;9503014 2938 B7Z1F9;P08263 ABBA01050547;AK293371;AK310324;AL590363;AMYH02013736;AMYH02013737;AY532928;BC053578;BC110891;BG430521;BI762344;BM973137;CA841071;CH471081;CR407656;DC339498;M14777;M15872;M21758;M25627;NM_145740;S49975;S76235;XM_005249034 AAA36174;AAA52615;AAA52618;AAA70226;AAB20973;AAB24012;AAH53578;AAI10892;AAT06769;ADQ32574;BAH11495;CAG28584;EAX04385;NP_665683;P08263;XP_005249091 Hs.446309 1748297;1748299;1748301;2153341 G66731;G66732;G66733;RH15792 GST2;GSTA1-1;GTH1;MGC131939 GST HA subunit 1;GST class-alpha member 1;GST, class alpha, 1;GST-epsilon;OTTHUMP00000016611;S-(hydroxyalkyl)glutathione lyase A1;glutathione S-alkyltransferase A1;glutathione S-aryltransferase A1;glutathione S-transferase 2;glutathione S-transferase A1;glutathione S-transferase Ha subunit 1 APPROVED protein-coding HGNC:4626 00708 138359 REVIEWED 733891 GSK3B glycogen synthase kinase 3 beta The protein encoded by this gene is a serine-threonine kinase, belonging to the glycogen synthase kinase subfamily. It is involved in energy metabolism, neuronal cell development, and body pattern formation. Polymorphisms in this gene have been implicated in modifying risk of Parkinson disease, and studies in mice show that overexpression of this gene may be relevant to the pathogenesis of Alzheimer disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 3 3 3 q13.3 117949905 118223017 - 119540800 119813264 - 119821321 120094417 - 1358650;1300048;1580863;1358649;1302533;1302569;1641844;1581696;1641929;1641931;2293188;2306093;5510026;6480464;6484113;6907045;7242068;8554872 10894547;11226152;12566926;15254796;16397405;16478782;17329210;17357145;17530463;18432252;20042609;20635334 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2932 P49841;Q6FI27 AB451356;ABBA01061571;ABBA01061572;ABBA01061573;ABBA01061574;ABBA01061575;AC069444;AC078856;AC092910;AF074333;AF098789;AK290897;AMYH02007506;AMYH02007507;AMYH02007508;AMYH02007509;AY123976;BC000251;BC012760;BX640779;CA312249;CH471052;CR536510;DA477189;EU302497;HH982569;HH982571;HH982573;HH982575;L33801;NG_012922;NM_001146156;NM_002093;XM_006713610;XM_006713611 AAA66475;AAC69340;AAD48517;AAH00251;AAH12760;AAM88578;ABM83427;ABM86640;ABX89591;BAF83586;BAG70170;CAG38748;CBX51856;CBX51857;CBX51858;CBX51859;EAW79533;EAW79534;EAW79535;EAW79536;NP_001139628;NP_002084;P49841;XP_006713673;XP_006713674 Hs.445733 1707824;1723289;1856312;2112764;2119166;2160847;2162757;5021205;5124734 D3S4449;RH118425;RH16496;RH78108;SHGC-77247;SHGC-82140;STS-AA020957;STS-H65189;WI-21911 GSK-3 beta;GSK3beta isoform;OTTHUMP00000165239;OTTHUMP00000165240;glycogen synthase kinase-3 beta;serine/threonine-protein kinase GSK3B APPROVED protein-coding ENSG00000082701 HGNC:4617 05418 605004 REVIEWED 1344623 GSTA5 glutathione S-transferase alpha 5 The glutathione S-transferases (GST; EC 2.5.1.18) catalyze the conjugation of reduced glutathiones and a variety of electrophiles, including many known carcinogens and mutagens. The cytosolic GSTs belong to a large superfamily, with members located on different chromosomes. For additional information on GSTs, see GSTA1 (MIM 138359).[supplied by OMIM, Sep 2008] 6 6 6 p12.2 54358301 54372656 - 52696540 52710893 - 52831742 52846095 - 1580863;6480464;6907045 10676639;12042665;14574404;17601350;18977241;19664689;20200426;20237496 221357 Q7RTV2 ABBA01050547;AL590363;AMYH02013739;BK000212;CH471081;NM_153699 AAI46333;AAI48817;DAA00071;EAX04386;EAX04387;NP_714543;Q7RTV2 Hs.646984 5125917 RH71356 GST class-alpha member 5;OTTHUMP00000016610;glutathione S-transferase A5;glutathione S-transferase A5-5;glutathione transferase A5 APPROVED protein-coding ENSG00000182793 HGNC:19662 09620 607605 PROVISIONAL 1320601 GSTA4 glutathione S-transferase alpha 4 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. [provided by RefSeq, Jul 2008] 6 6 6 p12.1 54504520 54521952 - 52842746 52860178 - 52977948 52995380 - 1358120;1580863;1641942;5687771;5687773;5687963;5687772;5687774;5687769;6480464;6907045 10720752;11018474;14693714;15309552;20150287;20964710;22038048;22160604 10329152;11368510;11640913;11687296;11724905;11851347;11884396;12093480;12477932;14574404;14702039;14761685;15489334;16005854;16006997;16054170;16189514;16344560;17290392;17553661;17601350;18065725;18080870;18485437;18676680;18767114;18930016;18977241;19170196;19240061;19343046;19625176;19692168;19751749;20085333;20097730;20157331;20200426;20237496;20456754;20485444;20634891;20966433;21751261;21890473;23330092;23333304;23650189;23824909;23962720;24403508;9461507;9480897;9587421;9820822 2941 O15217;Q5JW88 AA709059;ABBA01050546;AF020918;AF025887;AF050059;AF125271;AF125272;AF125273;AK054804;AK315369;AL121969;AL162581;AMYH02013740;AY878121;BC015523;BC063439;BC096817;BG716171;CH471081;CR749474;DA521337;NM_001512;XM_005249035;Y13047 AAC39695;AAC72706;AAD04711;AAD27704;AAD27705;AAD27706;AAH15523;AAH63439;AAW56075;ABM81587;ABM84767;BAG37762;BAG51425;CAA73482;CAH18304;EAX04393;EAX04394;EAX04395;EAX04396;EAX04397;EAX04398;EAX04399;NP_001503;O15217;XP_005249092 Hs.485557 1745169;1778857;1795958;2132316;2135087;2172702;2175985;2175987;5015959;5020948 A001U27;A008S23;D10S2448;G19664;G35510;GDB:595860;GSTA4_1571;RH16339;SHGC-32108;SHGC-35093 DKFZp686D21185;GSTA4-4;GTA4 GST class-alpha member 4;OTTHUMP00000016624;OTTHUMP00000016625;S-(hydroxyalkyl)glutathione lyase A4;glutathione S-alkyltransferase A4;glutathione S-aralkyltransferase A4;glutathione S-aryltransferase A4;glutathione S-transferase A4;glutathione S-transferase A4-4;glutathione transferase A4-4 APPROVED protein-coding ENSG00000170899 HGNC:4629 06899 605450 REVIEWED 1606335 GSTA6P glutathione S-transferase alpha 6, pseudogene 6 6 6 p12.2 54331299 54339313 - 52670244 52678260 - 52805446 52813462 - 14726935;8185623;8307579 2942 ABBA01050547;AL590363;AMYH02013737;L13269;NG_001135 2113262;2161790 D6S1024;D6S2399 GSTAP1 APPROVED pseudo HGNC:4630 INFERRED 1351230 GSTA3 glutathione S-transferase alpha 3 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p12.1 54423172 54436229 - 52761437 52774496 - 52896639 52909698 - 1580863;1641938;6480464;6907045 17197701 11418619;11872752;12477932;14574404;15454730;15489334;15595823;16876319;17601350;18426392;18977241;19343046;20083122;20200426;20237496;21832049;23650189;23824909;8307579;9480897 2940 Q16772;Q5JW84;Q5JW85 AA846513;ABBA01050547;AF020919;AF508266;AI199811;AL121969;AMYH02013739;BC020619;BG573805;CH471081;DQ993361;DT932587;L13275;NM_000847;XM_006715072 AAA74634;AAD04712;AAH20619;AAM33360;ABI75350;ABM82315;ABM85490;EAX04390;EAX04391;NP_000838;Q16772;XP_006715135 Hs.102484 1750427;5125917 RH71356;SHGC-111737 GSTA3-3;GTA3;MGC22232 GST class-alpha member 3;OTTHUMP00000016614;OTTHUMP00000016615;S-(hydroxyalkyl)glutathione lyase A3;glutathione S-alkyltransferase A3;glutathione S-aralkyltransferase A3;glutathione S-aryltransferase A3;glutathione S-transferase A3;glutathione S-transferase A3-3 APPROVED protein-coding ENSG00000174156 HGNC:4628 07290 605449 REVIEWED 735330 GSS glutathione synthetase Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008] 20 20 20 q11.2 30265329 30292695 - 33516236 33543794 - 34928433 34955798 - 1580863;1599324;1302516;1300048;5508441;6480464;6907045;7240710;8554872;8699517 15693022;8896573;9215686 10369661;10450861;10652368;10861239;11167850;11780052;12477932;12638941;14990577;15173170;1518371;15489334;15890065;17206463;17234469;17503480;17601350;18977241;19056867;19111905;19672693;19913121;20200426;20413906;20439344;20485444;20628086;20800579;20802163;21044950;21105962;21139048;21683691;21771585;21890473;21906983;21963094;21988832;22505724;22863883;22939629;23000965;24030972;24250222;24323765;24816145;465367;6112263;6137189;7646467;8825653;9501919 2937 B7Z514;P48637;V9HWJ1 AB459500;ABBA01019173;ABBA01019174;ABBA01019175;AF485789;AK293144;AK298292;AK311421;AK311567;AK312492;AL133324;AMYH02036986;BC007927;CH471077;DQ074975;EU668322;EU794618;NG_008848;NM_000178;U34683;XM_005260406 AAB62390;AAH07927;AAL91591;AAY57328;ABM84164;ABM87567;ACF94475;ACJ13672;BAG35394;BAG75452;BAH11461;BAH12750;EAW76239;EAW76240;EAW76241;NP_000169;P48637;XP_005260463 Hs.82327 2175960;5491429 A006I18;MARC_11817-11818:1029268323:1 GSH-S;GSHS;HEL-S-64p;HEL-S-88n;MGC14098 GSH synthetase;OTTHUMP00000030711;epididymis secretory sperm binding protein Li 64p;epididymis secretory sperm binding protein Li 88n;glutathione synthase APPROVED protein-coding ENSG00000100983 HGNC:4624 03000 231900;266130;601002 REVIEWED 8661372 GSTA8P glutathione S-transferase alpha 8, pseudogene 6 6 6 54213820 54223008 - 52552743 52561913 - 52687945 52697115 - 12042665 100420627 ABBA01050549;ABBA01050550;AL109918;AMYH02013735;NG_025819 GSTAP7 pseudo HGNC:49903 INFERRED 8661607 GSTA9P glutathione S-transferase alpha 9, pseudogene 6 6 6 p12.1 54466439 54484030 - 52804705 52822320 - 52939907 52957522 - 12042665;18085818 100174857 ABBA01050546;ABBA01050547;AL121969;AMYH02013739;AMYH02013740;NG_008343 1751071 SHGC-105002 GSTA4P;GSTAP4 pseudo HGNC:49902 INFERRED 737133 GSTA2 glutathione S-transferase alpha 2 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008] 6 6 6 p12.1 54275978 54289456 - 52614885 52628361 - 52750087 52763563 - 1358120;1300048;1580863;1641938;6480464;6907045;8554872 10720752;17197701 10676639;11668220;11692074;12023294;12093480;12139976;12477932;1329668;1330133;14574404;1497629;15128049;1530570;15489334;15778998;16006997;1627661;17259654;17290392;17601350;18977241;19074885;19339270;19343046;19639209;19751749;19859803;19913121;20083122;20200426;20237496;20434437;20437850;20453000;20628086;21163259;21792076;21844655;23650189;24056816;2604726;3031680;3036131;3138230;3678589;3800996;3901925;7892174;8242618;8307579;8431482;8889548;9230131 2939 A8K987;P09210 ABBA01050548;AK292602;AK313601;AL109918;AMYH02013735;AMYH02013736;BC002895;BE795593;BE796134;BU685446;CH471081;H62933;M16594;NG_029430;NM_000846;S45640;X65727 AAA52616;AAB23672;AAH02895;ABM83917;ABM87238;BAF85291;BAG36367;CAA46642;CAA46643;EAX04384;NP_000837;P09210 Hs.94107 1648338;1667309;1699380;1748295;1748297;1748299;1748301;1855356;5125917 D6S1896;G66730;G66731;G66732;G66733;RH103277;RH1516;RH71356;SGC38393 GST2;GSTA2-2;GTA2;GTH2;MGC10525 GST HA subunit 2;GST class-alpha member 2;GST, class alpha, 2;GST-gamma;HA subunit 2;OTTHUMP00000017883;S-(hydroxyalkyl)glutathione lyase A2;glutathione S-alkyltransferase A2;glutathione S-aralkyltransferase A2;glutathione S-aryltransferase A2;glutathione S-transferase 2;glutathione S-transferase A2;glutathione-s-transferase, alpha type2;liver GST2 APPROVED protein-coding ENSG00000244067 HGNC:4627 00709 138360 REVIEWED 1606879 GSTK1 glutathione S-transferase kappa 1 This gene encodes a member of the kappa class of the glutathione transferase superfamily of enzymes that function in cellular detoxification. The encoded protein is localized to the peroxisome and catalyzes the conjugation of glutathione to a wide range of hydrophobic substates facilitating the removal of these compounds from cells. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009] 7 7 7 q34 137797393 137803091 + 142960506 142966222 + 143263429 143269129 + 6480464;6907045 11042152;11076863;11230166;11256614;12477932;12690205;12720545;14702039;14709161;14742434;15489336;15607001;16081649;16381901;17353931;17601350;18029348;18154451;18624398;18774560;19199708;19225211;19639233;19738201;19946888;20178365;20472488;21139048;21890473;21988832;22002062;22114354;22623428;23000965;23330092;23426619;23874603;24250222;24654937;24816145;8920976 373156 C9JNT3;E9PFN5;Q6FII1;Q9Y2Q3 ABBA01034134;AC073342;AF068287;AF070657;AF087849;AK000640;AK095263;AK289570;AK289580;AK295592;AK299968;AL136938;AMYH02016933;AMYH02016934;AY486465;AY520571;BC001231;BC050715;BC063425;BC110600;BQ436828;CH236959;CH471198;CR533445;NM_001143679;NM_001143680;NM_001143681;NM_015917 AAD20963;AAF65506;AAH01231;AAH50715;AAH63425;AAI10601;AAP97160;AAS00610;AAS01180;BAF82259;BAF82269;BAG53018;BAG58483;BAG61794;CAB66872;CAG38476;CAL38607;EAL23783;EAW51877;EAW51878;EAW51879;EAW51880;NP_001137151;NP_001137152;NP_001137153;NP_057001;Q9Y2Q3 Hs.390667 1665633;1778601;1849442;2179599;5024756;5093258 A009K20;G32613;RH36256;RH80030;STS-D20042;WI-11576 GST;GST 13-13;GST13;GST13-13;GSTK1-1;hGSTK1 GST class-kappa;OTTHUMP00000202103;OTTHUMP00000202104;OTTHUMP00000202121;OTTHUMP00000227050;OTTHUMP00000227051;glutathione S-transferase k1;glutathione S-transferase subunit 13 homolog APPROVED protein-coding ENSG00000197448 HGNC:16906 602321 REVIEWED 1350888 GSTA7P glutathione S-transferase alpha 7, pseudogene 6 6 6 p12.2 54265354 54271050 - 52604261 52609957 - 52739463 52745159 - 1329668;16344560 730152 ABBA01050548;AL109918;AMYH02013735;DB320793;NR_033760 Hs.739662;Hs.742634 GSTAP2;GSTAP6 APPROVED pseudo HGNC:4631 PROVISIONAL 735264 GSTM2 glutathione S-transferase mu 2 (muscle) Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108475704 108491676 + 110210644 110226619 + 109668022 109683997 + 1358120;1580863;2302178;6480464;6907045;8554872 10720752;18008142 10676639;12192076;12477932;12486119;12871945;14634838;1530570;15489334;15725629;16002077;1602151;16344560;16549767;17023043;17197702;18007994;18065725;18308613;18510611;18551009;19056867;19151192;19168034;19343046;19696791;19856098;19859803;19913121;2006920;20200426;2034681;20417188;20485444;20628086;21139048;21246532;21268265;21454564;21455499;21906983;21963094;2345169;23675469;24048194;24399650;6500576;8182750;8242618;8317488;8373352;9164836;9452477;9761928 2946 E9PGV1;E9PHN6;E9PHN7;E9PLF1;F6XZQ7;P28161;Q0D2I8 ABBA01068380;AC000031;AK299482;AK309796;AMYH02001713;AMYH02001714;AMYH02001715;AMYH02001716;BC017836;BC105038;BC105066;BC110380;BM924181;BT019947;CH471122;DA528798;M63509;NM_000848;NM_001142368;X56838 AAA60963;AAI05039;AAI05067;AAI10381;AAV38750;BAG61446;CAA40168;EAW56406;NP_000839;NP_001135840;P28161 Hs.279837 1725611;1788072;1788074;2129183;2129185;2185184;5096354 D6S1881;G62022;G67221;G67222;RH65389;SHGC-12332;UniSTS:33073 GST4;GSTM;GSTM2-2;GTHMUS;MGC117303 GST class-mu 2;GST, muscle;OTTHUMP00000013350;OTTHUMP00000013351;OTTHUMP00000013353;OTTHUMP00000233636;OTTHUMP00000233637;S-(hydroxyalkyl)glutathione lyase M2;glutathione S-alkyltransferase M2;glutathione S-aralkyltransferase M2;glutathione S-aryltransferase M2;glutathione S-transferase 4;glutathione S-transferase M1;glutathione S-transferase M2 (muscle);glutathione S-transferase Mu 2;glutathione s-transferase, mu 2 APPROVED protein-coding ENSG00000213366 HGNC:4634 00710 138380 REVIEWED 1349886 GSTM3P1 glutathione S-transferase mu 3 pseudogene 1 20 20 20 p11.22 21555921 21556494 + 21482034 21482607 + 21501396 21501969 + 170523 ABBA01054105;AL133325;AMYH02036817;NG_001040 GSTM3P;dJ984P4.2 APPROVED pseudo HGNC:16606 INFERRED 3322399 GSTM2P1 glutathione S-transferase mu 2 (muscle) pseudogene 1 INTERACTS WITH cadmium atom 6 6 6 q21 112114198 112115333 - 111367622 111368757 - 111046419 111047554 - 6480464 21906983 442245 ABBA01026099;AL357515;AMYH02014298;AY532924;AY532925;NR_002932 AAT06765;AAT06766 Hs.551627 pseudo HGNC:38009 VALIDATED 1349768 GSTM3 glutathione S-transferase mu 3 (brain) Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] 1 1 1 p13.3 108523169 108530274 - 110276554 110283660 - 109733932 109741038 - 1580863;5135038;5135039;5135042;5135040;5135041;5135043;5490267;5688729;5688743;5688745;6480464;6907045 10067818;10680782;11470996;15115915;15621212;16598069;18423940;19723343;20577141 10037815;10587441;11040079;11081456;11173863;11289100;11303592;11408349;11511301;11535247;11692073;11740339;11927838;12016153;12063626;12359356;12477932;12548461;14634838;14735473;14968442;15069685;1530570;15338373;15459020;15489334;15525789;15654505;15665284;15829318;15914277;16006997;16112301;16172217;16189514;16328000;16488179;16509765;16760134;16765145;16886896;16985026;17034008;17083362;17220350;17259654;17290392;17353931;17372252;17449559;17565746;17601350;17617661;17716224;17904251;17922434;18065725;18177825;18204928;18258609;18447907;18510611;18551009;18569590;18668224;18676680;18850183;18977241;18990750;18992148;19060904;19062541;19074885;19151192;19170196;19336475;19339270;19343046;19407363;19424794;19486347;19521675;19692168;19696791;19751749;19786980;19789190;19822571;19856098;19860743;19898482;19913121;19922706;20029944;20032816;20131310;20136364;20200426;20237496;20391138;20391338;20437850;20461808;20485444;20549140;20628086;20634891;20661821;20819778;20847076;20970553;21072184;21139048;21513434;21800051;21890473;21900206;21963094;21987572;22178446;22360420;22505724;22976281;23000965;23036584;23077236;23167362;2345169;23576398;23824909;24157827;24250222;24416175;24722188;24816145;8218382;8242618;8317488;8373352;8404061;8473333;8824514;9230131;9545290;9797707;9882431 2947 P21266;Q6FGJ9 AB209816;ABBA01068382;AF043105;AI201498;AI570401;AK304300;AK313444;AL158847;AMYH02001716;BC000088;BC008790;BC030253;BE392471;BG285419;BT019945;CH471122;CR542108;EF363096;EU136188;J05459;NM_000849;NR_024537 AAA60964;AAC17866;AAH00088;AAH08790;AAV38748;ABM82760;ABO72589;ABV02583;ABW03438;BAD93053;BAG36233;BAG65154;CAG46905;EAW56409;NP_000840;P21266 Hs.2006 1687974;2141579;5022450;5022649;5024039;5037552 D10S275;D11S2875;D16S325;D8S2279;RH93905;STS-H68549 GST5;GSTB;GSTM3-3;GTM3;MGC3310;MGC3704 GST class-mu 3;OTTHUMP00000013355;S-(hydroxyalkyl)glutathione lyase M3;brain GST;brain type mu-glutathione S-transferase;glutathione S-alkyltransferase M3;glutathione S-aralkyltransferase M3;glutathione S-aryltransferase M3;glutathione S-transferase M3 (brain);glutathione S-transferase Mu 3;glutathione S-transferase, Mu-3;hGSTM3-3 APPROVED protein-coding ENSG00000134202 HGNC:4635 00712 138390 REVIEWED 1349551 GSTM5P1 glutathione S-transferase mu 5 pseudogene 1 3 3 3 p25.2 12236784 12237344 - 12298875 12299981 - 12257376 12258482 - 2737666 100505557 ABBA01025205;AC091492;AMYH02006288;NG_030102 GST1L;GSTM1L APPROVED pseudo ENSG00000236062 HGNC:4633 INFERRED 1606334 GSTM4 glutathione S-transferase mu 4 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108463772 108473180 + 110198698 110208123 + 109656076 109665501 + 6480464;6907045 10587441;10905636;11508575;12140136;12477932;1530570;15489334;16169070;16344560;16854533;17601350;18551009;18977241;19151192;19336475;19343046;19584075;19718047;19856098;19898482;19913121;2006920;20200426;20237496;20485444;20529827;20628086;21906983;21963094;21987572;23824909;24816145;3174634;8203914;8276420;8284940;8349586;8373352;8471052;8889548 2948 A6NNT0;Q03013 ABBA01068380;AC000031;AI949679;AK291880;AMYH02001713;BC015513;BC108729;BI458242;BI791533;BM673461;CH471122;CR541869;DA895954;DQ062813;M96233;M96234;M99421;M99422;NM_000850;NM_147148;NR_024538;X56837;X68677 AAA57346;AAA57347;AAA58623;AAH15513;AAI08730;AAY98515;ABM81584;ABM81585;ABM84765;BAF84569;CAA40167;CAA48637;CAG46667;EAW56402;EAW56403;EAW56404;EAW56405;NP_000841;NP_671489;Q03013 Hs.348387 1340881;1646762;1745815;1760713;1850845;2189465;5016664;5096354 D1S2387;D1S2651;D6S1881;GDB:655882;MARC_6765-6766:992007412:1;SHGC-144243;SHGC-75286;humgstm5 GSTM4-4;GTM4;MGC131945;MGC9247 GST class-mu 4;GST-Mu2;GTS-Mu2;OTTHUMP00000013356;OTTHUMP00000013358;S-(hydroxyalkyl)glutathione lyase M4;glutathione S-alkyltransferase M4;glutathione S-aralkyltransferase M4;glutathione S-aryltransferase M4;glutathione S-transferase M4 APPROVED protein-coding ENSG00000168765 HGNC:4636 00706 138333 REVIEWED 3003935 GSTM3P2 glutathione S-transferase mu 3 pseudogene 2 2 2 2 153529268 153530261 - 159912507 159913500 - 159055995 159056988 - 100421057 ABBA01004858;AC010093;AMYH02005065;NG_021533 2141380 D2S1757 pseudo HGNC:38006 INFERRED 1602688 GSTCD glutathione S-transferase, C-terminal domain containing FOUND IN extracellular vesicular exosome; INTERACTS WITH cyclosporin A; cytarabine; 1H-pyrazole (ortholog) 4 4 4 q24 103929094 104068013 + 106629935 106768882 + 105708778 105847725 + 6480464 12477932;14702039;19056867;20010834;20010835;20332099;21906983;21965014;23284291;23455924;24023788;24058608;8125298 79807 B7Z8J7;D6R949;D6R9W2;D6RCC4;D6RCC9;Q8NEC7 ABBA01063735;ABBA01063736;AC008243;AC105391;AK023335;AK225563;AK292355;AK303547;AMYH02009853;BC032942;BX648355;CH471057;NM_001031720;NM_024751;XM_005263222 AAH32942;ADZ15729;BAB14532;BAF85044;BAH13983;EAX06191;EAX06192;EAX06193;NP_001026890;NP_079027;Q8NEC7;XP_005263279 Hs.161429 1658460;1714891;1854251;2141668;2149176 D4S877;RH120440;SHGC-37278;SHGC-50459;STS-N32085 DKFZp686I10174;FLJ13273 OTTHUMP00000161865;OTTHUMP00000161866;OTTHUMP00000219810;glutathione S-transferase C-terminal domain-containing protein protein-coding ENSG00000138780 HGNC:25806 07823 615912 VALIDATED 1347598 GSTO3P glutathione S-transferase omega 3, pseudogene 3 3 3 q22.1 128971754 128972549 + 130546482 130547277 + 130827638 130828433 + 12618591 344813 ABBA01059200;AC097105;AMYH02007661;NG_005668 GSTO3P1 APPROVED pseudo HGNC:23065 INFERRED 1343931 GSTP1P1 glutathione S-transferase pi 1 pseudogene 1 12 12 12 q13-q14 55947341 55947752 + 56294084 56294495 + 55900300 55900711 + 1427860 2951 ABBA01008393;AC023055;AMYH02026554;NG_004638;X65032 GST3L;GSTP1P;GSTPL;GSTPP APPROVED pseudo HGNC:4640 INFERRED 1345331 GSTO1 glutathione S-transferase omega 1 The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 10 10 10 q25.1 99754787 99768056 + 106013952 106027222 + 104254194 104267464 + 1580863;1358651;5490299;5490514;5491008;5490521;6480464;6907045 14570706;15917099;17194543;20818931;21410266 10783391;11035031;11271497;11457926;11511179;12477932;12565892;12618591;12928150;15040808;15146197;15159516;15164054;15489334;15623683;15901998;15992993;16169070;16385451;17158763;17213182;17450230;17484623;17548696;17601350;17617905;17637926;17717316;18065725;18186040;18216717;18400112;18414193;18414634;18427999;18449862;18571971;18720901;18799873;18941778;18977241;18986335;19056867;19148497;19152805;19513904;19624857;19635583;19686770;19738201;19859803;19913121;19914269;20106899;20113212;20200426;20210239;20237496;20367187;20374258;20472488;20532380;20547570;20562859;20628086;20670920;20800603;21094982;21106529;21139048;21351650;21832049;21890473;21906983;21963094;22100662;22283150;22293942;22339537;22440634;22494505;22505724;22522127;22747749;22939629;23000965;23086268;23824909;23888047;24040330;24417908;24816145;25027693;8076819;8889548;9786866;9988762 9446 P78417;Q5TA01;Q5TA02;V9HWG9 ABBA01063087;AF212303;AK313680;AL139341;AMYH02023734;AY817669;BC000127;BX537431;CA431506;CF130513;CH471066;CN283947;DB501888;DT220068;EU794619;NG_023362;NM_001191002;NM_001191003;NM_004832;U90313 AAB70109;AAF73376;AAH00127;AAV68046;ACJ13673;BAG36430;CAD97673;EAW49601;EAW49602;EAW49603;EAW49604;NP_001177931;NP_001177932;NP_004823;P78417 Hs.190028 1768910;1851632;5019853;5024583;5095818 G34966;RH67640;RH71268;RH79001;SHGC-37586 DKFZp686H13163;GSTO 1-1;GSTO-1;GSTTLp28;HEL-S-21;P28;SPG-R MMA(V) reductase;OTTHUMP00000020429;OTTHUMP00000020430;OTTHUMP00000020431;S-(Phenacyl)glutathione reductase;epididymis secretory protein Li 21;glutathione S-transferase omega 1-1;glutathione S-transferase omega-1;glutathione transferase omega 1;glutathione-S-transferase like;glutathione-dependent dehydroascorbate reductase;monomethylarsonic acid reductase APPROVED protein-coding ENSG00000148834 HGNC:13312 10401 605482 REVIEWED 1350769 GRM8 glutamate receptor, metabotropic 8 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q31.3-q32.1 120880032 121693753 - 126078652 126892428 - 126438598 127252381 - 1358645;1580863;6480464;6484664;6771180;6484666;6771182;6771187;6771183;6484665;6771186;6907045;8554872 12676915;15211621;15589052;17113112;17430409;17434465;17940877;22138692;22546615 10216218;11166323;11329013;11912074;11943148;12477932;15452121;15489334;16144832;17167337;17684544;17955477;17975119;18195715;18618593;19023099;19058789;19156168;19268276;20009918;20201926;20237162;20379614;20398908;20560679;20800221;21493956;23420844;8824806;9299241;9473604 2918 C9J7I1;E7ETK3;H7C4V5;O00222 ABBA01057687;ABBA01057688;ABBA01057689;ABBA01057690;ABBA01057691;ABBA01057692;ABBA01057693;AC000099;AC000354;AC000355;AC000356;AC000361;AC000362;AC000363;AC000364;AC000365;AC000366;AC000367;AC000369;AC000370;AC000373;AC000374;AC002048;AC002057;AC002063;AC002083;AC002084;AC002113;AC002114;AC002424;AC002496;AC002497;AC002533;AJ236921;AJ236922;AK123053;AK290197;AK315203;AMYH02016702;AMYH02016703;AMYH02016704;AY608335;BC093725;BC101675;BC143344;BG202742;BG211606;CH236947;CH471070;CS223369;EU432125;HC309802;KC877180;KC877182;KF458592;KF458593;KF458594;KF458595;KF458596;NG_029532;NM_000845;NM_001127323;NR_028041;U92459;U95025;XM_006715938 AAB46348;AAB51764;AAB72040;AAH93725;AAI01676;AAT37959;ABY87924;BAF82886;CAB36968;CAB36969;CAJ46924;CBJ21208;EAL24322;EAW83621;EAW83622;EAW83623;EAW83624;NP_000836;NP_001120795;O00222;XP_006716001 Hs.449625 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648;REN113649;REN113650;REN113651;REN113652;REN113653;REN113654;REN113655;REN113656;REN113657;REN113658;REN113659;REN113660;REN113661;REN113662;REN113663;REN113664;REN113665;REN113666;REN113667;REN113668;REN113669;REN113670;REN113671;REN113672;REN113673;REN113674;REN113675;REN113676;REN113677;REN113678;REN113679;REN113680;REN113681;REN113682;REN113683;REN113684;REN113685;REN113686;REN113687;REN113688;REN113689;REN113690;REN113691;REN113692;REN113693;REN113694;REN113695;REN113696;REN113697;REN113698;REN113699;REN113700;REN113701;REN113702;REN113703;REN113704;REN113705;REN113706;REN113707;REN113708;REN113709;REN113710;REN113711;REN113712;REN113713;REN113714;REN113715;REN113716;REN113717;REN113718;REN113719;REN113720;REN113721;REN113722;REN113723;REN113724;REN113725;REN113726;REN113727;REN113728;REN113729;REN113730;REN113731;REN113732;REN113733;REN113734;REN113735;REN113736;REN113737;REN113738;REN113739;REN113740;REN113741;REN113742;REN113743;REN113744;REN113745;REN113746;REN113747;REN113748;REN113749;REN113750;REN113751;REN113752;REN113753;REN113754;REN113755;REN113756;REN113757;REN113758;REN113759;REN113760;REN113761;REN113762;REN113763;REN113764;REN113765;REN113766;REN113767;REN113768;REN113769;REN113770;REN113771;REN113772;REN113773;REN113774;REN113775;REN113776;REN113777;REN113778;REN113779;REN113780;REN113781;REN113782;REN113783;REN113784;REN113785;REN113786;REN113787;REN113788;REN113789;REN113790;REN113791;REN113792;REN113793;REN113794;REN113795;REN113796;REN113797;REN113798;REN113799;REN113800;REN113801;REN113802;REN113803;REN113804;REN113805;REN113806;REN113807;REN113808;REN113809;REN113810;REN113811;REN113812;REN113813;REN113814;REN113815;REN113816;REN113817;REN113818;REN113819;REN113820;REN113821;REN113822;REN113823;REN113824;REN113825;REN113826;REN113827;REN113828;REN113829;REN113830;REN113831;REN113832;REN113833;REN113834;REN113835;REN113836;REN113837;REN113838;REN113839;REN113840;REN113841;REN113842;REN113843;REN113844;REN113845;REN113846;REN113847;REN113848;REN113849;REN113850;REN113851;REN113852;REN113853;REN113854;REN113855;REN113856;REN113857;REN113858;REN113859;REN113860;REN113861;REN113862;REN113863;REN113864;REN113865;REN113866;REN113867;REN113868;REN113869;REN113870;REN113871;REN113872;REN113873;REN113874;REN113875;REN113876;REN113877;REN113878;REN113879;REN113880;REN113881;REN113882;REN113883;REN113884;REN113885;REN113886;REN113887;REN113888;REN113889;REN113890;REN113891;REN113892;REN113893;REN113894;REN113895;REN113896;REN113897;REN113898;REN113899;REN113900;REN113901;REN113902;REN113903;REN113904;REN113905;REN113906;REN113907;REN113908;REN113909;REN113910;REN113911;REN113912;REN113914;REN113915;REN113917;REN113918;REN113922;REN113923;REN113924;REN113925;REN113926;REN113927;REN113929;REN113930;REN113931;REN113932;REN113933;REN113934;REN113935;REN113936;REN113937;REN113938;REN113939;REN113940;REN113941;REN113942;REN113943;REN113944;REN113945;REN113946;REN113947;REN113948;REN113949;REN113950;REN113951;REN113952;REN113953;REN113954;REN113955;REN113956;REN113957;REN113958;REN113959;REN113960;REN113961;REN113962;REN113963;REN113964;REN113965;REN113966;REN113967;REN113968;REN113969;REN113970;REN113971;REN113972;REN113973;REN113974;REN113975;REN113976;REN113977;REN113978;REN113979;REN113980;REN113981;REN113982;REN113983;REN113984;REN113985;REN113986;REN113987;REN113988;REN113989;REN113990;REN113991;REN113992;REN113993;REN113994;REN113995;REN113996;REN113997;REN113998;REN113999;REN114000;REN114001;REN114002;REN114003;REN114004;REN114005;REN114006;REN114007;REN114008;REN114009;REN114010;REN114011;REN114012;REN114013;REN114014;REN114015;REN114016;REN114017;REN114018;REN114019;REN114020;REN114021;REN114022;REN114023;REN114024;REN114025;REN114026;REN114027;REN114028;REN114029;REN114030;REN114031;REN114032;REN114033;REN114034;REN114035;REN114036;REN114037;REN114038;REN114039;REN114040;REN114041;REN114042;REN114043;REN114044;REN114045;REN114046;REN114047;REN114048;REN114049;REN114050;REN114051;REN114052;REN114053;REN114054;REN114055;REN114056;REN114057;REN114058;REN114059;REN114060;REN114061;REN114062;REN114063;REN114064;REN114065;REN114066;REN114067;REN114068;REN114069;REN114070;REN114071;REN114072;REN114073;REN114074;REN114075;REN114076;REN114077;REN114078;REN114079;REN114080;REN114081;REN114082;REN114083;REN114084;REN114085;REN114086;REN114087;REN114088;REN114089;REN114090;REN114091;REN114092;REN114093;REN114094;REN114095;REN114096;REN114097;REN114098;REN114099;REN114100;REN114101;REN114102;REN114103;REN114104;REN114105;REN114106;REN114107;REN114108;REN114109;REN114110;REN114111;REN114112;REN114113;REN114114;REN114115;REN114116;REN114117;REN114118;REN114119;REN114120;REN114121;REN114122;REN114123;REN114124;REN114125;REN114126;REN114127;REN114128;REN114129;REN114130;REN114131;REN114132;REN114133;REN114134;REN114135;REN114136;REN114137;REN114138;REN114139;REN114140;REN114141;REN114142;REN114143;REN114144;REN114145;REN114146;REN114147;REN114148;REN114149;REN114150;REN114151;REN114152;REN114153;REN114154;REN114155;REN114156;REN114157;REN114158;REN114159;REN114160;REN114161;REN114162;REN114163;REN114164;REN114165;REN114166;REN114167;REN114168;REN114169;REN114170;REN114171;REN114172;REN114173;REN114174;REN114175;REN114176;REN114177;REN114178;REN114179;REN114180;REN114181;REN114182;REN114183;REN114184;REN114185;REN114186;REN114187;REN114188;REN114189;REN114190;REN114191;REN114192;REN114193;REN114194;REN114195;REN114196;REN114197;REN114198;REN114199;REN114200;REN114201;REN114202;REN114203;REN114204;REN114205;REN114206;REN114207;REN114208;REN114209;REN114210;REN114211;REN114212;REN114213;REN114214;REN114215;REN114216;REN114217;REN114218;REN114219;REN114220;REN114221;REN114222;REN114223;REN114224;REN114225;REN114226;REN114227;REN114228;REN114229;REN114230;REN114231;REN114232;REN114233;REN114234;REN114235;REN114236;REN114237;REN114238;REN114239;REN114240;REN114241;REN114242;REN114243;REN114244;REN114245;REN114246;REN114247;REN114248;REN114249;RH98229;SHGC-144155;SHGC-148151;SHGC-151011;SHGC-153012;SHGC-78922;WI-10680;stSG612933;stSG612936;stSG612937;stSG612938;stSG612939;stSG612940;stSG612941;stSG612942;stSG612943;stSG612944;stSG612945;stSG612946;stSG612947;stSG612948;stSG612949;stSG612950;stSG612951;stSG612952;stSG612953;stSG612954;stSG612955;stSG612956;stSG612957;stSG612959;stSG612960;stSG612961;stSG612962;stSG612963;stSG612964;stSG612965;stSG612966;stSG612967;stSG612968;stSG612969;stSG612970;stSG612971;stSG612972;stSG612973;stSG612974;stSG612976;stSG612977;stSG612978;stSG612979;stSG612980;stSG612981;stSG612982;stSG612983;stSG612984;stSG612985;stSG612986;stSG612987;stSG612988;stSG612989;stSG612990;stSG612991;stSG612992;stSG612993;stSG612994;stSG612995;stSG612996;stSG612997;stSG612998;stSG612999;stSG613000;stSG613001;stSG613002;stSG613003;stSG613004;stSG613005;stSG613006;stSG613007;stSG613008;stSG613009;stSG613011;stSG613012;stSG613013;stSG613014;stSG613015;stSG613016;stSG613017;stSG613018;stSG613019;stSG613020;stSG613021;stSG613022;stSG613023;stSG613024;stSG613025;stSG613026;stSG613027;stSG613028;stSG613029;stSG613030;stSG613031;stSG613032;stSG613033;stSG613034;stSG613035;stSG613036;stSG613037;stSG613038;stSG613039;stSG613040;stSG613041;stSG613042;stSG613043;stSG613044;stSG613045;stSG613046;stSG613047;stSG613048;stSG613049;stSG613050;stSG613051;stSG613052;stSG613053;stSG613054;stSG613055;stSG613056;stSG613057;stSG613058;stSG613059;stSG613060;stSG613061;stSG613062;stSG613063;stSG613064;stSG613065;stSG613066;stSG613067;stSG613069;stSG613070;stSG613071;stSG613072;stSG613073;stSG613074;stSG613075;stSG613076;stSG613077;stSG613078;stSG613079;stSG613080;stSG613081;stSG613082;stSG613083;stSG613084;stSG613085;stSG613086;stSG613087;stSG613088;stSG613089;stSG613090;stSG613091;stSG613092;stSG613093;stSG613094;stSG613095;stSG613096;stSG613097;stSG613098;stSG613099;stSG613100;stSG613101;stSG613102;stSG613103;stSG613104;stSG613105;stSG613106;stSG613107;stSG613109;stSG613110;stSG613111;stSG613112;stSG613113;stSG613114;stSG613115;stSG613116;stSG613117;stSG613118;stSG613120;stSG613121;stSG613122;stSG613123;stSG613124;stSG613125;stSG613126;stSG613127;stSG613128;stSG613129;stSG613130;stSG613131;stSG613132;stSG613133;stSG613134;stSG613135;stSG613136;stSG613138;stSG613139;stSG613140;stSG613141;stSG613142;stSG613143;stSG613144;stSG613145;stSG613146;stSG613147;stSG613148;stSG613149;stSG613150;stSG613151;stSG613152;stSG613153;stSG613154;stSG613155;stSG613156;stSG613157;stSG613158;stSG613159;stSG613160;stSG613161;stSG613162;stSG613163;stSG613164;stSG613165;stSG613166;stSG613167;stSG613168;stSG613169;stSG613170;stSG613171;stSG613172;stSG613173;stSG613174;stSG613175;stSG613176;stSG613177;stSG613178;stSG613179;stSG613180;stSG613181;stSG613182;stSG613183;stSG613184;stSG613185;stSG613186;stSG613187;stSG613188;stSG613189;stSG613190;stSG613191;stSG613192;stSG613193;stSG613194;stSG613195;stSG613196;stSG613197;stSG613198;stSG613199;stSG613200;stSG613201;stSG613202;stSG613203;stSG613204;stSG613205;stSG613206;stSG613207;stSG613208;stSG613209;stSG613210;stSG613211;stSG613212;stSG613213;stSG613214;stSG613215;stSG613216;stSG613217;stSG613218;stSG613219;stSG613220;stSG613221;stSG613222;stSG613223;stSG613224;stSG613225;stSG613226;stSG613227;stSG613228;stSG613229;stSG613232;stSG613233;stSG613238;stSG613244;stSG613245;stSG613246;stSG613247;stSG613248;stSG613249;stSG613250;stSG613251;stSG613252;stSG613253;stSG613254;stSG613255;stSG613256;stSG613257;stSG613258;stSG613259;stSG613260;stSG613261;stSG613262;stSG613263;stSG613264;stSG613265;stSG613266;stSG613267;stSG613268;stSG613269;stSG613270;stSG613271;stSG613272;stSG613273;stSG613274;stSG613275;stSG613276;stSG613277;stSG613278;stSG613279;stSG613280;stSG613281;stSG613282;stSG613283;stSG613284;stSG613285;stSG613286;stSG613287;stSG613288;stSG613289;stSG613290;stSG613291;stSG613292;stSG613293;stSG613294;stSG613295;stSG613296;stSG613297;stSG613298;stSG613299;stSG613300;stSG613301;stSG613302;stSG613303;stSG613304;stSG613305;stSG613306;stSG613307;stSG613308;stSG613309;stSG613310;stSG613311;stSG613312;stSG613313;stSG613314;stSG613315;stSG613316;stSG613317;stSG613318;stSG613319;stSG613320;stSG613321;stSG613322;stSG613323;stSG613324;stSG613325;stSG613326;stSG613327;stSG613328;stSG613329;stSG613330;stSG613331;stSG613332;stSG613333;stSG613334;stSG613335;stSG613336;stSG613337;stSG613338;stSG613339;stSG613340;stSG613341;stSG613342;stSG613343;stSG613344;stSG613345;stSG613346;stSG613347;stSG613349;stSG613350;stSG613351;stSG613352;stSG613353;stSG613354;stSG613355;stSG613356;stSG613357;stSG613358;stSG613359;stSG613360;stSG613361;stSG613362;stSG613363;stSG613365;stSG613366;stSG613367;stSG613368;stSG613369;stSG613370;stSG613371;stSG613372;stSG613373;stSG613374;stSG613375;stSG613376;stSG613377;stSG613378;stSG613379;stSG613380;stSG613381;stSG613382;stSG613383;stSG613384;stSG613385;stSG613386;stSG613387;stSG613388;stSG613390;stSG613391;stSG613392;stSG613393;stSG613394;stSG613395;stSG613396;stSG613397;stSG613398;stSG613399;stSG613400;stSG613401;stSG613402;stSG613403;stSG613404;stSG613405;stSG613406;stSG613407;stSG613408;stSG613409;stSG613410;stSG613411;stSG613412;stSG613413;stSG613414;stSG613415;stSG613416;stSG613417;stSG613418;stSG613419;stSG613420;stSG613421;stSG613422;stSG613423;stSG613424;stSG613425;stSG613426;stSG613427;stSG613428;stSG613429;stSG613430;stSG613431;stSG613432;stSG613433;stSG613434;stSG613435;stSG613436;stSG613437;stSG613438;stSG613439;stSG613440;stSG613441;stSG613442;stSG613443;stSG613444;stSG613445;stSG613447;stSG613448;stSG613449;stSG613450;stSG613451;stSG613452;stSG613453;stSG613454;stSG613455;stSG613456;stSG613457;stSG613458;stSG613459;stSG613460;stSG613461;stSG613462;stSG613463;stSG613465;stSG613466;stSG613467;stSG613468;stSG613469;stSG613470;stSG613471;stSG613472;stSG613473;stSG613474;stSG613475;stSG613476;stSG613477;stSG613478;stSG613479;stSG613480;stSG613481;stSG613482;stSG613484;stSG613485;stSG613486;stSG613487;stSG613488;stSG613490;stSG613491;stSG613492;stSG613494;stSG613495;stSG613496;stSG613498;stSG613499;stSG613501;stSG613502;stSG613503;stSG613504;stSG613505 FLJ41058;GLUR8;GPRC1H;MGC126724;MGLUR8;mGlu8 OTTHUMP00000024506;OTTHUMP00000069010;OTTHUMP00000199504;OTTHUMP00000212423;glutamate metabotropic receptor 8;metabotropic glutamate receptor 8 APPROVED protein-coding ENSG00000179603 HGNC:4600 03071 601116 REVIEWED 1625818 GSTT2B glutathione S-transferase theta 2B (gene/pseudogene) ENCODES a protein that exhibits transferase activity (inferred); INVOLVED IN glutathione derivative biosynthetic process (inferred); metabolic process (inferred); small molecule metabolic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH N-acetyl-beta-D-glucosamine; N-acetyl-D-glucosamine; 1-chloro-2,4-dinitrobenzene (ortholog) 22 22 22 q11.23 8122905 8126672 + 24299601 24303416 - 23957414 23961228 - 6480464 11181995;12477932;18029348;19424424;22001757;22216261;22676722;7789971;9729470 653689 G9J6Q5;P0CG30;Q6ICJ4 ABBA01055124;AC253536;AF057175;AF240786;AP000350;AP000351;BC071700;BC146936;NM_001080843;XM_005261715;XM_006725408;XM_006725409 AAH71700;AAI46937;NP_001074312;P0CG30;XP_005261772;XP_006725471;XP_006725472 Hs.656498 1847422;2159187;2219106 D22S1106;GSTT2_2655;STS-R08187 GSTT2P;MGC87963 GST class-theta-2;OTTHUMP00000198466;OTTHUMP00000198467;glutathione S-transferase theta 2;glutathione S-transferase theta 2B;glutathione S-transferase theta-2;glutathione S-transferase theta-2B protein-coding ENSG00000133433 HGNC:33437 VALIDATED 1343128 GSTM5 glutathione S-transferase mu 5 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108501476 108507502 + 110254406 110260890 + 109711779 109718268 + 1580863;6480464;6907045;1625563;1331525;7495838;7771534 15118671;15699453;15942020;20141739 10587441;11684093;12477932;14702039;15489334;16344560;17207965;17601350;18551009;18977241;19151192;19336475;19343046;19856098;20200426;20237496;20485444;20819778;21382349;21906983;21963094;22178446;22410570;24816145;8317488;8473333;9230131;9452477 2949 P46439;Q5T8Q9;Q5T8R1;Q5T8R2 ABBA01068381;ABBA01068382;AC000032;AK125820;AK127250;AK289673;AK315260;AL158847;AMYH02001716;BC058881;BI824480;BX281326;CH471122;DB089682;L02321;NM_000851;XM_005270784;XM_005270785 AAA20040;AAH58881;ADQ32648;BAC86900;BAF82362;BAG37677;EAW56407;EAW56408;NP_000842;P46439;XP_005270841;XP_005270842 Hs.75652 1670898;2168636;2184238;5016664 D15S1161;G15976;SHGC-75280;humgstm5 GSTM5-5;GTM5 GST class-mu 5;OTTHUMP00000013359;OTTHUMP00000013361;S-(hydroxyalkyl)glutathione lyase M5;glutathione S-alkyltransferase M5;glutathione S-aralkyltransferase M5;glutathione S-aryltransferase M5;glutathione S-transferase M5 APPROVED protein-coding ENSG00000134201 HGNC:4637 00711 138385 REVIEWED 1349485 GSTT2 glutathione S-transferase theta 2 Glutathione S-transferase (GSTs) theta 2 (GSTT2) is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: Alpha, Mu, Pi, Theta, and Zeta. The theta class members GSTT1 and GSTT2 share 55% amino acid sequence identity and both are thought to have an important role in human carcinogenesis. The theta genes have a similar structure, being composed of five exons with identical exon/intron boundaries. [provided by RefSeq, Jul 2008] 22 22 22 q11.23 8122880 8126672 + 24322291 24326106 + 23980123 23983915 + 1580863;6480464;6907045 10426791;10591208;10760690;10975610;11181995;12477932;12871945;1417752;15461802;15489334;15654505;16006997;17250773;18029348;18186040;18258609;18268125;18449862;18977241;19019335;19339270;19528963;19582785;19696791;19751749;19860743;20200426;20437850;21349909;21598179;7789971;8617493;8617495;8761485;8889548;9037717;9551553;9729470 2953 B5MCL2;G9J6Q5;P0CG29;P0CG30 AA682380;AC253536;AF057172;AF057173;AF057174;AF057176;AF240786;AK312043;AP000351;BC002415;BC146929;BC146940;BC146943;BM976631;BU584249;CH471095;CR456374;CR456500;CR456929;L38503;NM_000854;XM_005261590 AAB63956;AAC13317;AAG02373;AAH02415;AAI46930;AAI46941;AAI46944;ABM81668;BAG34980;CAG30260;CAG30386;CAG33210;CAK54510;CAK54528;CAK54809;CAK54827;EAW59625;EAW59626;NP_000845;P0CG29;XP_005261647 Hs.654462 1847422;2159187;2219106 D22S1106;GSTT2_2655;STS-R08187 GSTT2B;MGC182032 GST class-theta-2;Glutathione S-transferase theta-2B;OTTHUMP00000198491;OTTHUMP00000198492;glutathione S-transferase theta-2 APPROVED protein-coding ENSG00000099984 HGNC:4642 02701 600437 VALIDATED 1321858 GSTO2 glutathione S-transferase omega 2 The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010] 10 10 10 q25.1 99769465 99799992 + 106028174 106059176 + 104268416 104304948 + 1358120;5490299;1358651;5490988;5490514;6480464;6907045 10720752;14570706;15917099;17194543;20374258 12477932;12618591;14702039;15040808;15159516;15164054;15489334;15942673;15970797;15992993;16385451;16761626;16788846;17207965;17505575;17601350;17978102;18065725;18398695;18414634;18427999;18941778;18977241;18986335;19056867;19152805;19430957;19513904;19635583;19686770;19731014;19859803;19913121;19914269;20045512;20113212;20200426;20210239;20367187;20379614;20472488;20547570;20628086;20800603;21094982;21113667;21518482;21906983;22040239;22494505;22522127;22876127;23079717;23086268;23649768;23927022;24040330;8889548 119391 B4DML4;Q9H4Y5 ABBA01063087;AK094859;AK097894;AK126230;AK291886;AK296266;AK297522;AK300508;AL139341;AL162742;AL831850;AMYH02023734;AMYH02023735;AY191318;AY209189;AY350731;BC023583;BC046194;BC056918;BM708208;CH471066;DC341647;NG_023363;NM_001191013;NM_001191014;NM_001191015;NM_183239;XM_006717623;XM_006717624 AAH56918;AAO23573;AAP47743;AAR02452;ADQ32540;BAF84575;BAG58978;BAG59926;BAG62221;EAW49598;EAW49599;EAW49600;NP_001177942;NP_001177943;NP_001177944;NP_899062;Q9H4Y5;XP_006717686;XP_006717687 Hs.107384;Hs.203634 1849910;2131980;2187428 SHGC-23899;SHGC-56827;STS-N37090 GSTO 2-2;GSTO-2;bA127L20.1 MMA(V) reductase;OTTHUMP00000020440;OTTHUMP00000020441;bA127L20.1 (novel glutathione-S-transferase);glutathione S-transferase omega 2-2;glutathione S-transferase omega-2;glutathione-S-transferase-like protein;glutathione-dependent dehydroascorbate reductase;monomethylarsonic acid reductase APPROVED protein-coding ENSG00000065621 HGNC:23064 13614 612314 REVIEWED 1641970 GSTTP2 glutathione S-transferase theta pseudogene 2 22 22 22 q11.23 8185816 8201792 - 24385938 24401899 - 280113 296074 - 6480464 653399 ABBA01055126;AC253536;AK127991;AP000351;NR_003082 Hs.652398 2127702 AL008646 FLJ46109 pseudo HGNC:33606 PROVISIONAL 1602006 GSTTP1 glutathione S-transferase theta pseudogene 1 INTERACTS WITH silicon dioxide 22 22 22 q12 8141156 8147155 - 24340595 24347258 - 23998401 24005361 - 6480464 10591208;12477932 25774 ABBA01055124;AC253536;AL050257;AP000351;BC096726;BC098108;BC098364;BC099710;CH471095;NR_003081;XR_425311;XR_425312 CAB43359;EAW59627 Hs.652490 2110459 HS322B1A_9406 GSTT4;HS322B1A;MGC119755;MGC119756 pseudo ENSG00000276950 HGNC:26930 13673 PROVISIONAL 1346537 GTA galactosyltransferase activator 1580863 3097639 2955 Q13540 M14624 AAA35488;Q13540 GGTB1 protein-coding HGNC:4644 1602642 GSX2 GS homeobox 2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN forebrain dorsal/ventral pattern formation (inferred); forebrain morphogenesis (inferred); hindbrain morphogenesis (inferred); FOUND IN nucleus (inferred); INTERACTS WITH fonofos; parathion; terbufos 4 4 4 q12 52465927 52467801 + 54966248 54968122 + 54100081 54101955 + 6480464 11861295;12205114;12477932;15489334;17474147;19709628;21368052;22242181 170825 B2LYG3;D6R903;Q9BZM3 AB028838;ABBA01003397;AC110298;AF306344;AF439445;AI360912;AMYH02009226;BC075089;BC075090;CH471057;EU596451;NM_133267 AAH75089;AAH75090;AAK00880;AAM08285;ABZ92381;ACC61188;BAB84822;EAX05456;NP_573574;Q9BZM3 Hs.371899 2220442;5494043 UniSTS:480803;UniSTS:482364 GSH2 OTTHUMP00000158879;OTTHUMP00000218644;homeobox protein GSH-2 protein-coding ENSG00000180613 HGNC:24959 13612 VALIDATED 1354274 GTDC1 glycosyltransferase-like domain containing 1 ENCODES a protein that exhibits transferase activity (inferred); transferase activity, transferring glycosyl groups (inferred); INVOLVED IN biosynthetic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 2 2 2 q22.3 138416309 138773953 - 144702502 145112578 - 143944935 144332534 - 6480464;8554872 12477932;14702039;15068588;19826048;20379614;21821951;21832049;23251661 79712 B8ZZ45;C9J2C5;C9JIH3;F2Z2V8;G1UFN1;G5EA49;H7BYJ5;Q4AE62 AB112440;AB201269;AB597184;ABBA01028053;ABBA01028054;ABBA01028055;ABBA01028056;ABBA01028057;ABBA01028058;ABBA01028059;ABBA01028060;ABBA01028061;AC009957;AC010130;AC010681;AC016910;AF086278;AF086434;AF090899;AK021815;AK091684;AK126774;AK291357;AMYH02004918;AMYH02004919;AMYH02004920;AY281366;BC017741;BC061699;BF515083;BX431825;BX647436;BX647773;CH471058;DB458955;NM_001006636;NM_001164629;NM_001284233;NM_001284234;NM_001284235;NM_001284238;NM_024659;XM_005263771;XM_005263774;XM_005263775;XM_005263777;XM_005263782;XM_005263784;XM_005263786;XM_006712752;XM_006712753;XM_006712754;XM_006712755;XM_006712756 AAF24023;AAH17741;AAH61699;AAQ16408;AAX93056;AAX93131;AAY14764;BAB13904;BAE16560;BAF84046;BAK74843;EAX11579;EAX11580;EAX11581;EAX11582;EAX11583;EAX11584;EAX11585;NP_001006637;NP_001158101;NP_001271162;NP_001271163;NP_001271164;NP_001271167;NP_078935;Q4AE62;XP_005263828;XP_005263831;XP_005263832;XP_005263834;XP_005263839;XP_005263841;XP_005263843;XP_006712815;XP_006712816;XP_006712817;XP_006712818;XP_006712819 Hs.44780;Hs.724028;Hs.724030;Hs.724213 1342186;1673405;1700708;1706802;1710954;1716401;1728659;1730761;1856017;1856595;2130933;2143283;2183445;2185333;2185450;2190965;5014051;5037552;7188835;7188839 D2S1295;D2S132;D2S1799;D2S203E;D2S2742;D8S2278;D8S2279;G63621;MARC_12151-12152:1004707695:1;RH103977;RH121381;RH69566;SGC30120;SHGC-57993;SHGC-80875;SHGC-84452;UniSTS:147788;WI-18125 FLJ44822;Hmat-Xa;mat-Xa OTTHUMP00000162654;OTTHUMP00000162655;OTTHUMP00000204553;OTTHUMP00000204554;OTTHUMP00000204555;OTTHUMP00000237436;glycosyltransferase-like 1;glycosyltransferase-like domain-containing protein 1;mannosyltransferase candidate;mannosyltransferase-like protein-coding ENSG00000121964 HGNC:20887 13615 610165 VALIDATED 1352057 GSTZ1 glutathione S-transferase zeta 1 This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme also plays a significant role in the catabolism of phenylalanine and tyrosine. Thus defects in this enzyme may lead to severe metabolic disorders including alkaptonuria, phenylketonuria and tyrosinaemia. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 57825806 57836516 + 77787230 77797940 + 77320887 77331597 + 1580863;6480464;6907045 10373324;10739172;11327815;11640913;11692075;11737895;12477932;12485442;12508121;14702039;15173170;15288444;15489334;15889141;16189514;16609361;17034008;17207965;17474147;17601350;18029348;18373941;18628685;18676680;18776599;18977241;19074885;19170196;19343046;19625176;19692168;19859803;20200426;20201926;20214911;20453000;20675267;21107728;21139048;21183226;21382349;21823988;21948024;22028318;22082156;22374552;22561244;22576335;22729907;23280616;23299908;23824909;24250222;24719983;24816145;9396740;9417084;9531472;9815194;9925947 2954 G3V267;G3V3B9;G3V4T6;G3V5G8;G3V5T0;G3V5U6;H0YJN8;O43708 AB209360;ABBA01030654;ABBA01030655;AC007954;AF053545;AF098318;AJ001838;AK094344;AK309054;AK315154;AK315609;AMYH02029568;AY316305;BC001453;BC052245;BE958109;BG330365;BG772450;BI559916;BI829992;CH471061;CR456987;NM_001513;NM_145870;NM_145871;U86529;XM_005267559 AAB96392;AAC33591;AAD43007;AAF62559;AAH01453;AAP69526;ADQ33195;BAD92597;BAG37600;BAG37978;CAA05045;CAG33268;EAW81278;EAW81279;EAW81280;EAW81281;NP_001504;NP_665877;NP_665878;O43708;XP_005267616 Hs.655292 1748313;1748315;1748317;1794874;2128145;5022200;5022651 D11S2921;D14S641E;G66716;G66717;G66718;L18426;PMC64834P1 GSTZ1-1;MAAI;MAI;MGC2029 OTTHUMP00000246405;OTTHUMP00000246406;OTTHUMP00000246407;OTTHUMP00000246408;OTTHUMP00000246409;OTTHUMP00000246410;OTTHUMP00000246413;S-(hydroxyalkyl)glutathione lyase;glutathione S-alkyltransferase;glutathione S-aralkyltransferase;glutathione S-aryltransferase;glutathione transferase zeta 1;maleylacetoacetate isomerase;maleylacetone isomerase APPROVED protein-coding ENSG00000100577 HGNC:4643 04785 603758 REVIEWED 736060 GSTM1 glutathione S-transferase mu 1 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] 1 1 p13.3 110230418 110240828 + 109687796 109693745 + 1331525;1358668;1358120;2293828;2293798;2293824;2293826;2293830;2306625;2306627;2306628;2306629;2306633;2293800;2293827;2293831;2306632;2293825;2293845;4140941;4140939;4142528;4140943;4142509;4142538;4140921;4140927;4142513;4140932;2314952;4142512;5490998;5490267;5490989;5490265;5490535;5490981;5491000;5490588;5148003;5148007;5490264;5490163;5490167;5491001;5490539;5490260;5490996;5490214;5490993;5490994;5490537;5490237;5490125;5490554;4142517;5148019;5490559;5490962;5490963;6480464;6907045;6906879;7488953;7488959;7488947;7488950;7495819;7495792;7495798;7488948;7488960;7488952;7495803;7495846;7495818;7488956;7495820;7488957;631154;7488954;7488955;7495801;7488949;7488951;7495814 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2944 B9ZVX7;E7EWW9;H3BQT3;H3BRM6;P09488;X5D932;X5DR03 ABBA01018398;AC000031;AC000032;AY510272;AY532926;AY532927;BC024005;BC036805;BC095463;BQ436476;CR541868;DB459176;J03817;KJ534856;KJ534857;KJ534858;KJ534998;KJ535021;NG_009246;NM_000561;NM_146421;S62935;X08020;X51451;X68676;XM_005270782;XM_005270783 AAA59203;AAD13938;AAH24005;AAR85979;AAT06767;AAT06768;ACT64407;ACT64408;ADQ32855;AHW56496;AHW56497;AHW56498;AHW56638;AHW56660;CAA30821;CAA35817;CAA48636;CAG46666;NP_000552;NP_666533;P09488;XP_005270839;XP_005270840 Hs.301961 1682543;1725611;1745815;1788074;2129183;2129185;5096354 D6S1881;G62022;G67222;GDB:655882;RH64476;SHGC-12332;UniSTS:33073 GST1;GSTM1-1;GSTM1a-1a;GSTM1b-1b;GTH4;GTM1;H-B;MGC26563;MU;MU-1 GST HB subunit 4;GST class-mu 1;HB subunit 4;OTTHUMP00000013346;OTTHUMP00000013347;OTTHUMP00000013348;OTTHUMP00000013349;S-(hydroxyalkyl)glutathione lyase;glutathione S-alkyltransferase;glutathione S-aralkyltransferase;glutathione S-aryltransferase;glutathione S-transferase M1;glutathione s-transferase, mu 1 APPROVED protein-coding ENSG00000134184 HGNC:4632 00707 138350 REVIEWED 1320681 GSX1 GS homeobox 1 ENCODES a protein that exhibits sequence-specific DNA binding; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); paracetamol; progesterone 13 13 13 q12.2 9441498 9442807 + 28366780 28368089 + 27792643 27793952 + 1580863;6480464 11731616;15057823;18951430;19460469;23648065 219409 Q9H4S2 AB044157;AB044158;ABBA01035742;AL390738;AMYH02027759;CH471075;NM_145657 AAI60140;BAB78692;BAB78693;EAX08418;NP_663632;Q9H4S2 Hs.351785 5492981 UniSTS:483541 GSH1;Gsh-1 GS homeo box protein 1;OTTHUMP00000018173;genomic screened homeo box 1;homeobox protein Gsh-1 protein-coding HGNC:20374 11016 PROVISIONAL 732257 GSTP1 glutathione S-transferase pi 1 Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. 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2950 A8MX94;P09211;V9HWE9 ABBA01024027;ABBA01024028;AMYH02024997;AP001184;AY324387;AY579414;BC010915;BC044846;BT019949;BT019950;CA946272;CH471076;CR450361;EU794620;GQ141553;GQ141554;M24485;NG_012075;NM_000852;U12472;U21689;U30897;U62589;X06547;X08058;X08094;X15480 AAA56823;AAA64919;AAC13869;AAC51237;AAC51280;AAH10915;AAP72967;AAV38752;AAV38753;ABM83664;ABM86911;ACJ13674;ACT66687;ACT66688;CAA29794;CAA30847;CAA30894;CAA33508;CAG29357;EAW74648;EAW74649;EAW74650;NP_000843;P09211 Hs.523836 1722373;1743123;1772338;2112538;2147253;5125556;5491653 D11S4609;D11S4906;G60258;GDB:270066;GSTP1;MARC_5389-5390:996690338:1;RH47100 DFN7;FAEES3;GST3;GSTP;HEL-S-22;PI GST class-pi;GSTP1-1;OTTHUMP00000174659;OTTHUMP00000174660;deafness, X-linked 7;epididymis secretory protein Li 22;fatty acid ethyl ester synthase III;glutathione S-transferase P;glutathione S-transferase pi;glutathione s-transferase, pi 2 APPROVED protein-coding ENSG00000084207 HGNC:4638 00614 134660 REVIEWED 731364 GTF2B general transcription factor IIB This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors IID and IIA. Transcription factor IIB serves as a bridge between IID, the factor which initially recognizes the promoter sequence, and RNA polymerase II. [provided by RefSeq, Jul 2008] 1 1 1 p22-p21 87564104 87603098 - 89318321 89357301 - 88852638 88891618 - 1580863;6480464 10220372;10330164;10359081;10409729;10449590;10454562;10478848;10619841;10704334;10756192;11005381;11029584;11045620;11080476;11113176;11118327;11149922;11416169;11782371;11864601;11959865;12167624;12392551;12477932;12529369;12535529;12578358;12660246;12665589;12791683;12931194;12972613;14585974;14612417;14641108;14963322;15013781;15024075;15037660;15081896;15142377;1517211;15197246;15207693;15249124;15265780;15282305;15342556;15353294;15489334;15604728;15635413;15710329;15989968;16449650;16595664;16710414;16878124;17643375;17994014;18562274;1876184;18768974;19193635;19235719;19275580;1939271;19393171;1946368;19590095;20226668;20347598;20398657;20880846;21139048;21489275;21890473;21896726;21906983;21988832;22079093;22505724;22939629;23000965;23055019;23115335;23184937;23251661;23827503;23940030;2449431;24816145;7597030;7608968;7609079;7641693;7651839;7671313;7675079;7706261;7707527;7707528;7757816;7848298;7913207;8006019;8162052;8413269;8524305;8566795;8598193;8621548;8662660;8754792;8800208;8849451;8870495;8889549;8946909;9054408;9058380;9089417;9121429;9159119;9177216;9259327;9267036;9292011;9295363;9305922;9315662;9405375;9611234;9722567;9765201;9765293;9792714;9812988;9841876;9874563;9892017 2959 B1APE1;B1APE2;Q00403 AA031701;AB451296;ABBA01045591;ABBA01045592;ABBA01045593;AI457606;AK289822;AL445991;AMYH02001430;AMYH02001431;BC020597;BP379342;CH471097;F07886;M76766;NM_001514;S44184 AAA61149;AAB23144;AAH20597;ABZ92423;BAF82511;BAG70110;EAW73159;EAW73160;NP_001505;Q00403 Hs.481852 1650229;1654309;1654485;2133575 A002M34;D1S3261;RH12661;RH70846 TF2B;TFIIB OTTHUMP00000012347;OTTHUMP00000012348;OTTHUMP00000012349;RNA polymerase II transcription factor IIB;S300-II;general transcription factor TFIIB;transcription initiation factor IIB APPROVED protein-coding ENSG00000137947 HGNC:4648 08928 189963 REVIEWED 736934 GSTT1 glutathione S-transferase theta 1 The protein encoded by this gene, glutathione S-transferase (GST) theta 1 (GSTT1), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1 and GSTT2. GSTT1 and GSTT2 share 55% amino acid sequence identity and both may play an important role in human carcinogenesis. The GSTT1 and GSTT2 genes have a similar structure, being composed of five exons with identical exon/intron boundaries. This GSTT1 gene is haplotype-specific and is absent from 38% of the population. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes, which are also located on chromosome 22, have been identified. 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2952 P30711;Q4W251 AA298437;AB057594;ABBA01055126;AF240786;AF435971;AJ867757;AJ867758;AJ874719;AK311138;AL359937;AP000351;BC007065;BC050410;BC064833;BF343733;BG536639;BM765626;BT019951;BX401239;CA306446;CA313466;CA487832;CD701199;CH471095;CR456499;DA900601;KI270879;NM_000853;NM_001293807;NM_001293808;NM_001293809;NM_001293810;NM_001293811;NM_001293812;NM_001293813;NM_001293814;X79389;XM_005261587;XM_005261588;XM_005261589;Z84718 AAG02374;AAH07065;AAL31549;AAV38754;ABM84406;ABM87756;BAB39498;CAA55935;CAG30385;CAI30331;CAI30332;CAI44003;CAK54527;CAK54826;EAW59629;EAW59630;EAW59631;EAW59632;EAW59633;EAW59634;EAW59635;NP_000844;NP_001280736;NP_001280737;NP_001280738;NP_001280739;NP_001280740;NP_001280741;NP_001280742;NP_001280743;P30711;XP_005261644;XP_005261645;XP_005261646 Hs.268573;Hs.738514 1712120;1748303;1748305;1748307;1748309;1748311;2143039;2217390;5015619;5022651;5037552 D11S2921;D11S3114;D16S2954;D8S2279;G54109;G66734;G66735;G66736;G66737;G66738;GSTT1_2791 GST class-theta-1;OTTHUMP00000198547;OTTHUMP00000198549;glutathione S-transferase theta-1;glutathione s-transferase, theta 1;glutathione transferase T1-1 APPROVED protein-coding HGNC:4641 02700 600436 REVIEWED 1602495 GTF2A1L general transcription factor IIA, 1-like The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014] 2 2 2 p16.3 48684850 48747052 + 48844937 49003645 + 48617798 48679609 + 6480464;8554872 10364255;11159353;11329013;11784080;11889132;12107178;12477932;15489334;16525715;16646664;16966320;20211142;20379614;21151128;8125298;8759016;9482861 11036 C9J2C1;C9JJY0;F8WE56;H0Y8M0;Q9UNN4 ABBA01075197;AC073082;AC087816;AF106857;AI037906;AK223350;AK302220;AMYH02003784;AMYH02003785;BC025991;BC064585;BG207854;BG717289;CH471053;HY049561;NG_033050;NM_001193487;NM_006872 AAD39634;AAH25991;AAH64585;ABM82492;ABM85682;BAD97070;BAG63576;EAX00193;EAX00194;NP_001180416;NP_006863;Q9UNN4 Hs.732016 2110955;2111448;5016328;5017923 D2S215E;D2S2548;LHCGR;RH69506 ALF;MGC26254 GTF2A1-like factor;OTTHUMP00000159452;OTTHUMP00000200508;OTTHUMP00000201062;OTTHUMP00000201165;OTTHUMP00000201180;TFIIA alpha/beta like factor;TFIIA large subunit isoform ALF;TFIIA-alpha and beta-like factor;TFIIA-alpha/beta-like factor;general transcription factor II A, 1-like factor APPROVED protein-coding ENSG00000242441 HGNC:30727 05640 605358 REVIEWED 737167 GTF2A2 general transcription factor IIA, 2, 12kDa Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM, Mar 2008] 15 15 15 q22.2 36818236 36837689 - 59930261 59949737 - 59638062 59657538 - 1580863;6480464 10364255;10454562;10567404;10570139;11005381;11340159;11509574;11564872;12107178;12477932;14570910;15489334;17353931;17643375;1939271;20811636;21489275;21906983;21963094;22505724;22834489;23827503;2449431;7724559;7958899;7958900;8224848;8224850;8577725;8626665;8764062;8849451;8946909;9405375;9603936 2958 A8MYR4;B2R506;H0YK39;P52657 ABBA01038957;ABBA01038958;AC092755;AK312015;AMYH02030549;BC000287;BC001919;BT007362;CH471082;CR542192;CV572751;DB531003;NM_004492;U14193;U21242;X81713;XM_005254324;XM_005254325 AAA64951;AAB58247;AAH00287;AAH01919;AAP36026;ABM82171;ABM85357;BAG34953;CAA57357;CAG46989;EAW77573;EAW77574;NP_004483;P52657;XP_005254381;XP_005254382 Hs.512934 1659516;1666828;1695022;2147383;2172125 D15S1163;G44724;STS-N32216;STS-U14193;WI-11900 HsT18745;TF2A2;TFIIA OTTHUMP00000163600;OTTHUMP00000196512;OTTHUMP00000196513;OTTHUMP00000196514;OTTHUMP00000196515;TFIIA p12 subunit;TFIIA-12;TFIIA-gamma;TFIIAS;general transcription factor IIA subunit 2;general transcription factor iia, 2 (12kd subunit);transcription initiation factor IIA gamma chain;transcription initiation factor IIA subunit 2 APPROVED protein-coding ENSG00000140307 HGNC:4647 02747 600519 VALIDATED 733620 GTF2A1 general transcription factor IIA, 1, 19/37kDa Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010] 14 14 14 q31.1 61686296 61727496 - 81641796 81687575 - 81175452 81221231 - 1580863;6480464 10364255;10454579;10567404;10570139;11278496;11340159;11509574;11564872;12054857;12477932;12508121;12538582;12972251;14570910;14702039;15257296;15489334;15576338;15601843;16537915;17081983;17353931;17596959;17643375;17681538;18029348;1876184;18950845;18976975;19235719;19336002;1939271;19724865;20811636;20936779;21139048;21489275;22412018;2247058;22834489;22863883;22939629;23827503;24250222;2449431;24816145;7724559;7958899;7958900;8006019;8224848;8224850;8577725;8626665;8764062;8849451;8889548;8946909;9405375;9603936;9618479;9812988;9880542 2957 J3KNC0;P52655 ABBA01030611;ABBA01030612;AC010582;AK021641;AK025178;AL136040;AMYH02029623;AMYH02029624;BC041410;BC050703;BC107155;BC107156;BX493028;CB240876;CH471061;D14886;D14887;NM_001278940;NM_015859;NM_201595;X75383;X77225 AAF26776;AAI07156;AAI07157;ABZ92147;ABZ92422;BAA03603;BAA03604;CAA53151;CAA53152;CAA54442;EAW81334;EAW81335;NP_001265869;NP_056943;NP_963889;P52655 Hs.592334 1684102;1712671 RH121039;RH91335 FLJ21525;MGC129969;MGC129970;TF2A1;TFIIA;TFIIA-42;TFIIAL OTTHUMP00000245978;OTTHUMP00000245980;TFIIA alpha, p55, isoform 1;general transcription factor 2a, 1;general transcription factor IIA subunit 1;glucose regulated protein, 58kD pseudogene;transcription initiation factor IIA subunit 1;transcription initiation factor TFIIA 42 kDa subunit APPROVED protein-coding ENSG00000165417 HGNC:4646 02748 600520 VALIDATED 1347219 GTF2F2P1 general transcription factor IIF, polypeptide 2 pseudogene 1 4 4 4 q31.22 145748376 145749514 + 148427241 148428379 + 147506089 147507227 + 12370301;14506279;7835093;9847074 2964 ABBA01070057;AC093908;AMYH02010274;NG_003013;NG_013343 GTF2F2L;TFIIF APPROVED pseudo HGNC:4654 INFERRED 1343690 GTF2F1 general transcription factor IIF, polypeptide 1, 74kDa ENCODES a protein that exhibits phosphatase activator activity; poly(A) RNA binding; transcription factor binding; INVOLVED IN positive regulation of catalytic activity; response to virus; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction; nucleus; INTERACTS WITH 2-methylcholine; bis(2-chloroethyl) sulfide; carmustine 19 19 19 p13.3 6318367 6332078 - 6379580 6393291 - 6379569 6393280 - 1580863;6480464;8554872 10428810;10454543;10454562;10490622;10567562;10704353;10777215;11113176;11118325;11118327;11183778;11248041;11509574;12089333;12226669;12351650;12354769;12477932;12578358;12591939;12591941;12676794;12721286;12732728;12737519;12775419;15023052;15053879;15282305;15351637;15489334;1559613;15635413;15711563;15723517;15831464;15893730;16083285;16097034;16159877;16169070;16204234;16548883;16878124;16905668;16964243;17081983;17137291;1734283;1734284;17643375;17848138;18029348;18284209;18562274;18950845;18976975;19215094;1939271;20211142;20360068;21139048;21489275;21890473;21896726;21906983;21963094;22244332;22343046;22863883;22939629;23000965;24250222;2449431;24816145;7566098;7590250;7667268;7827505;7854423;7890767;7926747;8106390;8441635;8486367;8625415;8628277;8662660;8755740;8794892;8849451;8934526;8946909;9089417;9121429;9159119;9238003;9265625;9305922;9315662;9405375;9409616;9482861;9512541;9660973;9677423;9710619;9765201;9765293;9790902;9858607 2962 M0QXD6;M0R0R9;M0R0Z3;P35269 AA323384;ABBA01055961;AC011491;AK293124;AK302178;AK315240;AMYH02035351;BC000120;BC013007;BT007097;CH471139;CR456798;NM_002096;X64002;X64037 AAH00120;AAH13007;AAP35761;ABM84692;ABM92214;BAG37667;BAG56676;BAG63544;CAA45404;CAA45408;CAG33079;EAW69098;EAW69099;NP_002087;P35269 Hs.68257 1649228;1658618;2131585;2148317;7187091 RH47762;RH67894;SHGC-35441;STS-X64037 BTF4;RAP74;TF2F1;TFIIF OTTHUMP00000237859;TFIIF-alpha;general transcription factor IIF 74 kDa subunit;general transcription factor IIF subunit 1;transcription initiation factor IIF subunit alpha;transcription initiation factor RAP74 protein-coding ENSG00000125651 HGNC:4652 01803 189968 VALIDATED 1315703 GTF2E1 general transcription factor IIE, polypeptide 1, alpha 56kDa ENCODES a protein that exhibits metal ion binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN gene expression (inferred); regulation of transcription, DNA-templated (inferred); transcription elongation from RNA polymerase II promoter (inferred); FOUND IN intermediate filament cytoskeleton; nucleus; INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 3 3 3 q21-q24 118871308 118911668 + 120461558 120502216 + 120742711 120783069 + 1580863;6480464 10454562;10827951;11113176;11416139;11509574;12477932;12665589;1454543;15282296;15385556;16344560;16547462;17643375;18160537;18354501;18950845;19106100;19322201;1939271;1956398;1956403;20211142;2026628;21139048;21489275;21832049;22404213;2251258;22863883;22939629;23064645;23251661;23602568;2449431;24816145;3029109;7651391;7667268;7829083;7926747;8125298;8152490;8162052;8849451;8934526;8946909;9054383;9121429;9159119;9271120;9305922;9405375;9418848;9632676;9677423;9765293 2960 C9IYL4;C9J329;E9PER7;P29083 ABBA01016492;AC117472;AK223401;AMYH02007520;BC005917;CH471052;DA498425;NM_005513;S67859;X63468 AAB20413;AAH05917;AAI56225;AAI56998;BAD97121;CAA45068;EAW79519;NP_005504;P29083 Hs.445272 1762263;2129420;2135326;2217392;5022578 D1S1423;GTF2E1_3370;SHGC-146121;SHGC-35449;STS-S67859 FE;TF2E1;TFIIE-A OTTHUMP00000216144;TFIIE-alpha;general transcription factor IIE 56 kDa subunit;general transcription factor IIE subunit 1;transcription initiation factor IIE subunit alpha protein-coding ENSG00000153767 HGNC:4650 01799 189962 VALIDATED 2298824 GTF2H2B general transcription factor IIH, polypeptide 2B (pseudogene) INTERACTS WITH ethyl methanesulfonate; trichostatin A; valproic acid 5 5 5 q13.2 3 782 + 69711197 69746189 + 70415370 70450362 + 6480464 12477932;14702039;15252450 653238 ABBA01194832;AC145034;AC146944;AF086359;AK093949;BC171919;BX537982;DQ786239;HG498049;NR_033417 AAI71919 Hs.607501 2161191;5015879;5015961;5021516;5022578;5022588;5024421;5037552;5111881;5114022;5120536;5123519 A007J09;D11S4687;D15S1477;D1S1423;D5S1597E;D8S2279;GDB:314949;GDB:344498;RH46577;RH93537;SGC44462;SHGC-58588 DKFZp686M0199;DKFZp686P18101;MGC198634;RP11-497H16.9 APPROVED pseudo HGNC:31393 VALIDATED 4145165 GTF2F2P2 general transcription factor IIF, polypeptide 2 pseudogene 2 1 1 1 p34.2 39341698 39342388 - 41059305 41059995 - 40593633 40594323 - 728633 ABBA01023168;AL031289;AMYH02000858;NG_022719 1336335;1771882 D1S2706;SHGC-74662 pseudo HGNC:39092 INFERRED 2302833 GTF2H2C_2 GTF2H2 family member C, copy 2 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN nucleotide-excision repair (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); PARTICIPATES IN nucleotide excision repair pathway; FOUND IN core TFIIH complex (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 5 5 5 q13.2 3753 4905 + 965642 997974 - 965642 997896 - 6907045;6480464 11237011;12477932;15372022;15496913;21906983;21963094;23455924 730394 Q6P1K8 AC138827;BC064557;BC065021;BX647445;GL339449;NM_001042490;XM_005276796;XM_005276797;XM_005276798 AAH64557;AAH65021;NP_001035955;Q6P1K8;XP_005276853;XP_005276854;XP_005276855 Hs.422901 DKFZp686M0199;GTF2H2C;GTF2H2D;MGC75049;MGC75050 OTTHUMP00000221911;OTTHUMP00000221912;OTTHUMP00000221932;general transcription factor IIH polypeptide 2-like protein;general transcription factor IIH subunit 2-like protein;general transcription factor IIH, polypeptide 2, 44kDa-like;general transcription factor IIH, polypeptide 2D APPROVED protein-coding HGNC:35418 PROVISIONAL 1321435 GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008] 5 5 5 q13.2 422 8403 + 70330951 70363516 - 71035124 71067689 - 1580863;6480464;6907045;7246922 21763452 10066804;10082552;10214908;10438593;10583946;10866664;11062469;11313499;11319235;11445587;12080057;12393749;12477932;12646563;12820975;14569024;14980221;15220921;15489334;15635413;15775968;15790571;16669699;17207965;17332483;17438371;17643375;18854154;19154529;1939271;20398657;21139048;21157430;21558443;21821450;21906983;21963094;21988832;22797925;22939629;23602568;23986795;2449431;24654937;24944016;7552146;7664335;8194529;8628270;8652557;8692841;8692842;8849451;8870499;8934526;8946909;8981949;9054383;9063743;9118947;9121429;9130708;9184228;9311822;9334327;9405375;9503025;9512541;9570510;9582279;9651670;9765201;9771713;9790902;9852112 2966 Q13888;R4GMS9;R4GMV2 AC044797;AC142525;AC244260;AF078847;AK296578;BC005345;BG283896;BM083743;BT006773;NM_001515;U21910;U21911;U80017;XM_005248484;XM_005248489;XM_006714594;XM_006714595;XM_006714596;XM_006725448;XM_006725449;XM_006725450;XM_006725451;XM_006725452;Z30094 AAA64502;AAA64503;AAC52046;AAD44479;AAH05345;AAI40304;AAI41604;AAP35419;ADQ32613;BAG59198;CAA82910;NP_001506;Q13888;XP_005248541;XP_005248546;XP_006714657;XP_006714658;XP_006714659;XP_006725511;XP_006725512;XP_006725513;XP_006725514;XP_006725515 Hs.191356;Hs.607501 5109643;5123710 D5S1609E;D5S1833 BTF2;BTF2P44;MGC102806;T-BTF2P44;TFIIH;p44 BTF2 p44;OTTHUMP00000223559;OTTHUMP00000223561;OTTHUMP00000224504;TFIIH basal transcription factor complex p44 subunit;basic transcription factor 2 44 kDa subunit;general transcription factor IIH polypeptide 2;general transcription factor IIH subunit 2;general transcription factor IIH, polypeptide 2, 44kD subunit APPROVED protein-coding ENSG00000145736 HGNC:4656 03450 601748 REVIEWED 1320859 GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN gene expression (inferred); regulation of transcription, DNA-templated (inferred); transcription elongation from RNA polymerase II promoter (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; cisplatin 8 8 8 p12 29394512 29474259 - 30436031 30515738 - 30578514 30658221 - 1580863;6480464 10777215;10792464;10827951;11113176;11416139;11509574;12477932;12665589;15489334;16547462;17643375;18029348;19106100;19210545;1939271;1956398;1956404;19861958;20125193;2026628;21139048;21489275;21832049;21963094;21988832;22404213;2251258;22678362;22863883;22939629;23064645;23934736;24250222;2449431;24816145;3029109;7651391;7876263;7926747;8152490;8628277;8786118;8849451;8934526;8946909;8999876;9054383;9089417;9121429;9271120;9405375;9418848;9618479;9677423 2961 E5RH41;E5RIW4;E5RK24;P29084 ABBA01023661;ABBA01023662;ABBA01023663;AC102945;AC103959;AF292062;AMYH02017716;BC001775;BC030572;CH471080;NM_002095;S67861;X63469 AAB20414;AAG39077;AAH30572;CAA45069;EAW63446;EAW63447;EAW63448;EAW63449;NP_002086;P29084 Hs.77100 1659486;1662499;1669190;1684393;1700398;1767624;2112042;2112288;2112358;2162212;2174067 D8S1862;D8S2166;D8S2214;D8S2241;G32125;G36444;RH103819;RH11463;RH47774;RH93000;WI-19229 FE;TF2E2;TFIIE-B OTTHUMP00000225416;TFIIE-beta;general transcription factor IIE subunit 2;transcription initiation factor IIE subunit beta protein-coding ENSG00000197265 HGNC:4651 01800 189964 VALIDATED 2302830 GTF2H2C GTF2H2 family member C ENCODES a protein that exhibits DNA-dependent ATPase activity; protein kinase activity; protein N-terminus binding; INVOLVED IN ATP catabolic process; G-protein coupled receptor internalization; protein phosphorylation; PARTICIPATES IN nucleotide excision repair pathway; FOUND IN holo TFIIH complex; INTERACTS WITH bathocuproine disulfonic acid; pyrrolidine dithiocarbamate 5 5 5 q13.2 419 8403 + 68856001 68888730 + 69560172 69592903 + 6480464;6907045 12477932;15252450;24654937 728340 D6RAW1;D6RGC9;D6RID8;D6RIT7;D6RJD3;Q13888;Q6P1K8 ABBA01110158;ABBA01190087;AC142525;AC145102;AC147575;AK292361;AK315282;AMYH02011481;AMYH02011482;AMYH02011483;AMYH02011484;AMYH02011485;AMYH02011486;AMYH02011487;BC105980;BC157894;BC171860;DQ786295;NM_001098728;XM_005248588;XM_005248590;XM_005248591;XM_005248592;XM_005248593;XM_005248594;XM_005276784;XM_005276786;XM_005276787;XM_005276788;XM_005276789;XM_006714688;XM_006714689;XM_006726217 AAI05981;AAI71860;BAF85050;BAG37691;NP_001092198;Q6P1K8;XP_005248645;XP_005248647;XP_005248648;XP_005248649;XP_005248650;XP_005248651;XP_005276841;XP_005276843;XP_005276844;XP_005276845;XP_005276846;XP_006714751;XP_006714752;XP_006726280 Hs.191356;Hs.422901 2161191;5015961;5037552;5109281 D15S1477;D1S1425;D8S2279;SGC44462 DKFZp686P18101;FLJ77682;GTF2H2D;MGC102806;MGC198575 OTTHUMP00000221910;OTTHUMP00000221911;OTTHUMP00000221912;OTTHUMP00000221932;general transcription factor IIH polypeptide 2-like protein;general transcription factor IIH subunit 2-like protein;general transcription factor IIH, polypeptide 2, 44kDa-like;general transcription factor IIH, polypeptide 2C APPROVED protein-coding ENSG00000183474 HGNC:31394 PROVISIONAL 1352501 GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa ENCODES a protein that exhibits DNA-dependent ATPase activity; protein kinase activity; RNA polymerase II carboxy-terminal domain kinase activity; INVOLVED IN ATP catabolic process; protein phosphorylation; transcription from RNA polymerase II promoter; PARTICIPATES IN nucleotide excision repair pathway; FOUND IN holo TFIIH complex; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; carbamazepine 6 6 6 p21.3 32474080 32479983 + 30875957 30881883 + 30908200 30914103 + 1331680;1580863;6480464;6907045 9118947 10066804;10082552;10214908;10438593;10583946;10677310;10866664;11062469;11113176;11313499;12080057;12393749;12477932;12590132;12646563;14569024;15220921;15489334;15533047;15601838;16246722;16702430;16874302;17242193;17466625;17466626;17643375;18354501;18391197;18614043;18676829;1939271;19681155;19851445;19945377;20522537;20587610;20848476;21139048;21906983;22524621;22623531;22939629;23028341;23602568;23751493;23986795;24250222;2449431;24816145;8125298;8612585;8628270;8692842;8849451;8934526;8946909;9054383;9121429;9130708;9159119;9184228;9311822;9334327;9405375;9512541;9570510;9582279;9651670;9765201;9790902;9852112 2968 A2ABL5;B4DTJ5;Q92759 AB032121;AB088103;AB103609;AB202101;ABBA01038067;AK222607;AK298058;AK300239;AK309869;AL662854;AL662870;AL669830;AL773541;AMYH02013438;AY124590;BA000025;BC004935;BC016302;BI460355;BT007321;BX927194;CH471081;CR759747;CR936875;NM_001517;Y07595 AAH04935;AAH16302;AAM64222;AAP35985;ABM84091;ABM87462;BAB63317;BAC54936;BAD96327;BAE78622;BAF31271;BAG60352;BAG62007;CAA68870;EAX03347;NP_001508;Q92759 Hs.485070 1709596;2189457;5491601 MARC_23960-23961:1031924369:1;MARC_6551-6552:992007295:1;SHGC-85159 P52;TFB2;TFIIH BTF2 p52;OTTHUMP00000029049;OTTHUMP00000164874;TFIIH basal transcription factor complex p52 subunit;basic transcription factor 2 52 kDa subunit;general transcription factor IIH polypeptide 4;general transcription factor IIH subunit 4 protein-coding ENSG00000213780 HGNC:4658 03456 601760 VALIDATED 1317878 GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa ENCODES a protein that exhibits DNA-dependent ATPase activity; protein kinase activity; RNA polymerase II carboxy-terminal domain kinase activity; INVOLVED IN ATP catabolic process; positive regulation of transcription from RNA polymerase II promoter; protein phosphorylation; PARTICIPATES IN nucleotide excision repair pathway; FOUND IN holo TFIIH complex; nucleus; INTERACTS WITH 5-aza-2'-deoxycytidine; aluminium sulfate (anhydrous); benzo[a]pyrene diol epoxide I 11 11 11 p15.1-p14 18476032 18520801 + 18343816 18388590 + 18322269 18367043 + 1580863;6480464;6907045;7246920 22572993 10066804;10082552;10214908;10428966;10438593;10454562;10467411;10490622;10583946;10734072;10734143;10777215;10866664;10949034;11062469;11071939;11113176;11118327;11239393;11259578;11266437;11313499;12080057;12379213;12392551;12393749;12453423;12477932;12646563;12665589;14500720;14569024;14702039;14706819;15195146;15220921;15282296;1529339;15489334;15625236;15909982;16169070;16793543;17643375;18160537;18270339;18354501;18562274;18692935;18976975;1939271;20211142;20522537;20677014;20974803;21124955;21139048;21157430;21489275;21543505;21670263;21890473;21988832;22902626;22939629;23000965;23180869;23602568;23751493;23986795;24403578;2449431;24816145;7533895;7724549;7789978;7935417;8152490;8162052;8194528;8194529;8521393;8612585;8628270;8652557;8692841;8692842;8849451;8934526;8946909;9054383;9118947;9121429;9130708;9184228;9305922;9311822;9334327;9400991;9405375;9512541;9570510;9582279;9630526;9651670;9698541;9710619;9765201;9765293;9774388;9790902;9792714;9837719;9852112 2965 AAB23294;E9PI26;E9PL58;E9PM51;F5H0Y9;P32780 ABBA01061058;AC084117;AC107948;AI275181;AJ131959;AK027003;AK127204;AK299621;AK299730;AK312974;AMYH02024390;AMYH02024391;AMYH02024392;AY163770;BC000365;BC004452;CH471064;CR457368;M95809;NM_001142307;NM_005316;XM_006718208 AAA58399;AAB23294;AAH00365;AAH04452;AAN46740;ABM82334;ABM85510;BAB15621;BAG35811;BAG54452;BAG61549;BAG61628;CAC00685;CAG33649;EAW68399;EAW68400;EAW68401;NP_001135779;NP_005307;P32780;XP_006718271 Hs.577202 1723887;1772488;1782264;1847398;2149820;2178406;2217396;5092380 G54112;GTF2H1;GTF2H1_3373;RH118763;RH65846;RH79042;SHGC-112034;SHGC-30910 BTF2;P62;TFB1;TFIIH BTF2 p62;OTTHUMP00000236477;OTTHUMP00000236478;OTTHUMP00000236480;TFIIH basal transcription factor complex p62 subunit;basic transcription factor 2 62 kDa subunit;general transcription factor IIH polypeptide 1;general transcription factor IIH subunit 1 protein-coding ENSG00000110768 HGNC:4655 01807 189972 VALIDATED 1345691 GTF2IP1 general transcription factor IIi, pseudogene 1 7 7 7 q11.23 94604794 94605174 - 74601104 74653454 - 75185383 75237705 - 6480464 12477932;14702039;15252450;9466987 2970 AA576587;AC124781;AC138783;AC211470;AC211486;AK299175;BC045632;BQ021719;DQ786291;HY020270;NR_002206 BAG61221 Hs.654705;Hs.743231 1848908;5014501;5015304;5015881;5016250;5023234;5024378;5107707;5115348;5124717;5126803 A002V48;D7S2071E;D7S2123E;G31029;G33157;GDB:335751;GDB:4585221;GDB:4585468;IB291;IB386;RH80654 WBSCR7 pseudo ENSG00000277053 HGNC:4660 VALIDATED 1345695 GTF2H5 general transcription factor IIH, polypeptide 5 This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009] 6 6 6 q25.3 159237408 159268427 + 158589379 158620376 + 158168347 158199344 + 6480464;6907045;7240710;7246919;8699517;8554872 22824526 11062469;12477932;14574404;14702039;15146197;15220921;15489334;16427011;16669699;17350038;18270339;20522537;21890473;21906983;23000965;23602568;23729738;9461396 404672 Q6ZYL4 ABBA01021099;ABBA01021100;AJ634743;AK024874;AK055106;AK129771;AL133347;AL590703;AMYH02014837;AMYH02014838;BC004568;BC038848;BC056906;BC060317;BQ004444;CH471051;CN403888;CS300615;NG_011758;NM_207118;U92024;U92025 AAH56906;AAH60317;ABZ92133;CAG25512;CAK32279;EAW47663;NP_997001;Q6ZYL4 Hs.356224 1690484;1698784;1729656;1777161;2163836;2164733;5020740;5037552 D6S220;D8S2279;G17032;L17809;RH102955;RH48401;SHGC-67814;WI-11136 C6orf175;TFB5;TFIIH;TGF2H5;TTD;TTD-A;TTDA;bA120J8.2 OTTHUMP00000017501;TFB5 ortholog;TFIIH basal transcription factor complex TTD-A subunit;TFIIH basal transcription factor complex TTDA subunit;general transcription factor IIH subunit 5 APPROVED protein-coding ENSG00000272047 HGNC:21157 10581 601675;608780 REVIEWED 5489142 GTF2IP3 general transcription factor IIi, pseudogene 3 13 13 13 q12.11 661998 668625 - 19600141 19606766 - 19026001 19032626 - 645686 ABBA01068543;ABBA01068544;AC245087;AL137001;NG_023043 1748419 G64225 pseudo HGNC:42640 INFERRED 6766785 GTF2IRD1P1 GTF2I repeat domain containing 1 pseusogene 1 7 7 7 q11.21 65806416 65841243 + 66274980 66309813 - 66809993 66844826 - 6480464 12690205;14702039;9847074 729156 ABBA01048964;AC027644;AK093373;AMYH02015913;CH236961;KF458477;KF458478;NR_003934 EAL23732 Hs.709878 1655222;1691272;1790175;1847267;2151574 D7S2368;D7S3254;G29190;RH36373;RH75235 pseudo ENSG00000230583 HGNC:44136 PROVISIONAL 733447 GTF2F2 general transcription factor IIF, polypeptide 2, 30kDa ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent helicase activity (inferred); DNA binding (inferred); INVOLVED IN 7-methylguanosine mRNA capping (inferred); ATP catabolic process (inferred); gene expression (inferred); FOUND IN microtubule cytoskeleton; nucleus; INTERACTS WITH atrazine; cyclosporin A; disodium selenite 13 13 13 q14 26750737 26914361 + 45694631 45858240 + 45120496 45284105 + 1580863;6480464 10373431;10454543;10523626;10704353;11113176;11278533;12089333;12226669;12477932;12676794;12737519;12775419;14612417;15282305;15489334;1559613;15635413;16083285;16169872;16344560;16712791;16878124;17643375;18029348;1840667;18562274;18850631;19215094;1939271;20195357;21489275;21890473;21896726;21906983;22412018;22863883;22939629;23000965;24163370;2449431;2477704;24816145;3860504;7827505;7926747;7929273;8162052;8441635;8577725;8628277;8662660;8758937;8794892;8849451;8934526;8946909;9089417;9121429;9238003;9265625;9295363;9305922;9405375;9409616;9512541;9677423;9689043;9765201;9790902 2963 P13984 ABBA01021216;ABBA01021217;ABBA01021218;ABBA01021219;ABBA01021220;ABBA01021221;ABBA01021222;AK291545;AL138693;AL138963;AMYH02027966;AMYH02027967;BC001771;BT019525;CA429230;CB124466;CH471075;DB252856;NM_004128;X16901;X59745 AAH01771;AAV38332;ACE86726;ACE87412;BAF84234;CAA34775;CAA42419;EAX08726;EAX08727;EAX08728;EAX08729;NP_004119;P13984 Hs.654582 1681684;1730431;1788188;1788202;1849039;2115438;2131522;2147872;2175922;2217394 A004S30;D13S190;D13S808;G67441;G67442;GTF2F2_3372;RH44730;SHGC-11937;STS-X16901;WI-13796 BTF4;RAP30;TF2F2;TFIIF ATP-dependent helicase GTF2F2;OTTHUMP00000018348;TFIIF-beta;general transcription factor IIF 30 kDa subunit;general transcription factor IIF subunit 2;transcription initiation factor IIF subunit beta;transcription initiation factor RAP30 protein-coding HGNC:4653 01804 189969 VALIDATED 1313552 GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012] 12 12 12 q24.31 123714817 123741772 + 124118286 124147151 + 123633739 123662604 + 1580863;6480464;6907045 10066804;10082552;10214908;10438593;10583946;10673506;10866664;11313499;12080057;12393749;12477932;12646563;14569024;15220921;15489334;15790571;17643375;18270339;1939143;1939271;21139048;21157430;21906983;21963094;22939629;23602568;23986795;24332808;2449431;24816145;7724549;8194529;8465201;8628270;8652557;8692841;8692842;8849451;8934526;8946909;9054383;9118947;9121429;9184228;9311822;9334327;9405375;9512541;9570510;9582279;9651670;9765201;9790902;9852112 2967 F5GWD3;F5GX35;F5GXG6;F5H3G1;F5H4K7;F5H6X0;H0YFF7;Q13889 ABBA01060395;ABBA01060396;AC117503;AF548661;AK298128;AK313200;AL558542;AL600169;AMYH02027458;BC013216;BC014570;BC031030;BC039726;BC047868;BC065250;BG720598;BM013501;CA306634;CB955773;CH471054;DA953586;DB170244;DB482432;DC319942;HY046873;NM_001271866;NM_001271867;NM_001271868;NM_001516;XM_005253568;Z30093 AAH31030;AAH39726;AAH47868;AAH65250;AAN40702;ABZ92424;BAG36016;BAG60408;CAA82909;EAW98426;EAW98427;EAW98428;EAW98429;NP_001258795;NP_001258796;NP_001258797;NP_001507;Q13889;XP_005253625 Hs.355348 1687760;1700210;1779822;2121134;2217398;5015404;5016478;5020343;5020740;5020946;5022450;5022578;5024413;5037552 A009S20;D10S275;D12S2135;D1S1423;D8S2279;GDB:434012;GTF2H3_3375;L17705;L17809;L17877;L17971;RH103721;RH80942;SHGC-153794 BTF2;P34;TFB4;TFIIH BTF2 p34;OTTHUMP00000239208;OTTHUMP00000239209;OTTHUMP00000239210;OTTHUMP00000239211;OTTHUMP00000239214;TFIIH basal transcription factor complex p34 subunit;basic transcription factor 2 34 kDa subunit;general transcription factor IIH polypeptide 3;general transcription factor IIH subunit 3 protein-coding ENSG00000111358 HGNC:4657 07531 601750 REVIEWED 1604573 GTF2IRD2 GTF2I repeat domain containing 2 This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 7 7 7 q11.23 1 1975 + 74210483 74267872 - 74796144 74851576 - 6480464 12477932;14702039;15100712;15243160;15388857;16532385;16971481;17549794;17823943;18508765;20473970;21693764;22899722;22939624;23118870;23229069;8125298 84163 Q86UP8 AC004166;AC083884;AC211424;AC211433;AK095257;AK123716;AK124334;AK225845;AK291431;AL833932;AL834153;AY260739;AY312853;AY312854;AY336979;AY336980;AY336981;BC038098;BC047706;BC061590;NM_001281447;NM_173537;XM_005277612 AAH47706;AAH61590;AAP14955;AAQ19673;AAQ19674;AAR36865;AAR36866;AAR36867;BAF84120;CAD38788;CAD38861;NP_001268376;NP_775808;Q86UP8;XP_005277669 Hs.647017;Hs.647039 5020948;5022200;5022578;5022651;5024272;5037552;5125948 D11S2921;D1S1423;D2S1254;D7S3266;D8S2279;G35510;L18426 FLJ21423;FLJ37938;FP630;GTF2IRD2A;MGC75203 GTF2I repeat domain-containing protein 2, alpha;GTF2I repeat domain-containing protein 2A;GTF2IRD2 alpha;OTTHUMP00000160880;OTTHUMP00000209156;general transcription factor II i repeat domain 2 alpha;general transcription factor II-I repeat domain-containing protein 2A;transcription factor GTF2IRD2;transcription factor GTF2IRD2-alpha APPROVED protein-coding ENSG00000196275 HGNC:30775 16402 608899 REVIEWED 1343970 GTF2IP2 general transcription factor IIi, pseudogene 2 21 21 q11.2 14815675 14834792 - 13443354 13462471 - 338448 ABBA01030840;AL078475;NG_031936 APPROVED pseudo HGNC:16082 INFERRED 8548403 GTF3AP1 general transcription factor IIIA pseudogene 1 9 9 9 p24.1 6133586 6134322 + 6196040 6196776 + 6196040 6196776 + 100135064 ABBA01065398;AL353741;AMYH02019091;NG_007341 pseudo HGNC:49744 INFERRED 8548365 GTF3AP4 general transcription factor IIIA pseudogene 4 5 5 5 96555407 96556294 + 100607441 100608328 + 101271737 101272624 + 100420593 ABBA01069161;ABBA01069162;AC116311;AMYH02011863;NG_024707 pseudo HGNC:49747 INFERRED 733836 GTF2IRD1 GTF2I repeat domain containing 1 The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] 7 7 7 q11.23 69347333 69496125 + 73868120 74016931 + 74453790 74602605 + 1580863;6480464;8554872 10198167;10573005;10575229;10642537;11438732;12193603;12239342;12475981;12477932;12853948;12857748;12865760;15231747;15302935;15489334;15527767;15941713;16055724;16293761;16494860;17081983;17346708;17474147;17846119;18029348;18326499;18508765;19205026;19240061;19471022;19897463;20007321;20972266;21693764;21890473;22198572;22608712;23145142;23314748;24097066;9774679 9569 E9PFE2;H7C4Q8;Q9UHL9 AB209389;ABBA01063886;ABBA01063887;ABBA01063888;ABBA01063889;ABBA01063890;ABBA01063891;ABBA01063892;ABBA01063893;AC004851;AC005015;AC005231;AC211433;AF089107;AF104923;AF118270;AF151354;AF156489;AK308242;AMYH02016055;AMYH02016056;AMYH02016057;AY648295;BC018136;CH471200;KF495976;NG_027954;NM_001199207;NM_005685;NM_016328;XM_005250720;XM_005250721;XM_006716182;XM_006716183;XM_006716184 AAD14687;AAD27668;AAF17358;AAF19786;AAF21796;AAH18136;AAP21877;AAS00361;AAS00362;AAT68469;ABM82097;ABM85280;BAD92626;EAW69599;EAW69600;EAW69601;NP_001186136;NP_005676;NP_057412;Q9UHL9;XP_005250777;XP_005250778;XP_006716245;XP_006716246;XP_006716247 Hs.647056 1341066;1669866;1701156;1786410;1786426;1790413;1790505;2187697;5015619;5016675;5016781;5020881;5037552;5125970;5127611 D11S3114;D7S2472;D7S3194;D7S3272;D7S3299;D7S3302;D8S2279;L17709;RH104206;RH79740;SHGC-171997;SHGC-172024;SHGC-32736;SHGC-67307;STS-AA019591 BEN;CREAM1;GTF3;MUSTRD1;RBAP2;WBS;WBSCR11;WBSCR12;hMusTRD1alpha1 GTF2I repeat domain-containing 1;GTF2I repeat domain-containing protein 1;OTTHUMP00000160822;OTTHUMP00000213171;OTTHUMP00000213172;OTTHUMP00000213173;USE B1-binding protein;Williams-Beuren syndrome chromosome region 11;binding factor for early enhancer;general transcription factor 3;general transcription factor II-I repeat domain-containing protein 1;general transcription factor III;general transcription factor ii i repeat domain-containing 1;musTRD1/BEN;muscle TFII-I repeat domain-containing protein 1 alpha 1;slow-muscle-fiber enhancer-binding protein;williams-Beuren syndrome chromosomal region 11 protein;williams-Beuren syndrome chromosomal region 12 protein APPROVED protein-coding ENSG00000006704 HGNC:4661 08379 604318 REVIEWED 8548364 GTF3AP5 general transcription factor IIIA pseudogene 5 7 7 7 p21.2 15004137 15004964 - 15024923 15025750 - 14985298 14986125 - 100128217 ABBA01056610;AC006045;AC006458;AC091789;AMYH02015277;CH236948;NG_022529 pseudo HGNC:49748 INFERRED 1347498 GTF2I general transcription factor IIi This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013] 7 7 7 q11.23 69551230 69623844 + 74071991 74175022 + 74657665 74760692 + 1580863;6480464;8554872 10373551;10648599;10854432;11278762;11287625;11313464;11373296;11934902;12082086;12193603;12239342;12393887;12477932;12493763;12853948;12865760;14556246;14623887;14702039;14743216;15096481;15231747;15302935;15489334;15561718;15635413;15664986;15767439;15840729;15941713;16055724;16159877;16166082;16314517;16712791;16738337;16943425;16964243;17023658;17081983;17314511;17353931;17643375;17803295;17970752;18029348;18445785;18579769;18662664;18976654;19097122;19111598;19182516;19205026;19214191;19242469;19282872;19380743;19471022;19486527;19505873;1961251;19615732;19701889;19880526;19897463;19946888;20360068;21139048;21145461;21209461;21252943;21282530;21319273;21328569;21407215;21503958;21549311;21613400;21653943;21693764;21813151;21880767;21890473;21906983;21988832;22037610;22048961;22178446;22268729;22505724;22566418;22578324;22586326;22608712;22863883;22939629;23000965;23443559;23862649;24097066;24147044;24231951;24250222;24332808;24457600;24654937;24722188;24816145;25027693;8377829;9012831;9334314;9384587;9466987;9584171;9671454;9837922 2969 A8K9W7;C9J6M0;P78347;Q499G6;X5D2J9;X5D939;X5DNP5;X5DR09 AA641906;ABBA01063881;ABBA01063882;AC004883;AC005231;AC083884;AC211433;AF015553;AF035737;AF038967;AF038968;AF038969;AK057670;AK093663;AK096095;AK292832;AK294935;AK297238;BC004472;BC070484;BC099907;BT007450;CB118501;CH471200;DC346283;KJ534859;KJ534860;KJ534861;KJ534862;KJ534863;KJ534965;NG_008179;NM_001163636;NM_001280800;NM_001518;NM_032999;NM_033000;NM_033001;U77948;XM_005250291;XM_005250296;XM_006715939;XM_006715940;XM_006715941;XM_006715942;XM_006715943;XM_006715944;XM_006715945;XM_006715946;Y14946 AAB48826;AAB70791;AAC08312;AAC08313;AAC08314;AAC08315;AAH04472;AAH70484;AAH99907;AAL93085;AAP36118;AAS07460;AAS07461;AAS07462;AAS07463;AAS07464;AHW56499;AHW56500;AHW56501;AHW56502;AHW56503;AHW56605;BAF85521;BAG58013;BAG59719;CAA75163;EAW69594;EAW69595;EAW69596;EAW69597;EAW69598;NP_001157108;NP_001267729;NP_001509;NP_127492;NP_127493;NP_127494;P78347;XP_005250348;XP_005250353;XP_006716002;XP_006716003;XP_006716004;XP_006716005;XP_006716006;XP_006716007;XP_006716008;XP_006716009 Hs.647041;Hs.654705;Hs.743231 1339289;1647172;1651762;1654391;1722801;1790415;1848908;1854818;2116505;2135812;2139712;2158429;2187703;5014501;5015304;5015881;5016250;5023234;5024378;5037552;5093824;5107707;5115348;5124717;7185244 A002V48;A008P34;A009X21;D7S1870;D7S2071E;D7S2123E;D7S2714;D7S3197;D7S3273;D8S2279;G17118;G31029;G31110;G32945;G33157;G60342;GDB:335751;GDB:4585468;IB291;IB386;RH36307;RH80654;SHGC-2422;STS-R22057 BAP135;BTKAP1;DIWS;FLJ38776;FLJ56355;GTFII-I;IB291;SPIN;TFII-I;WBS;WBSCR6 BTK-associated protein 135;BTK-associated protein, 135kD;Bruton tyrosine kinase-associated protein 135;OTTHUMP00000160876;OTTHUMP00000160877;OTTHUMP00000160878;OTTHUMP00000209509;SRF-Phox1-interacting protein;Williams-Beuren syndrome chromosome region 6;general transcription factor II-I;williams-Beuren syndrome chromosomal region 6 protein APPROVED protein-coding ENSG00000263001 HGNC:4659 03399 601679 REVIEWED 8548121 GTF3AP6 general transcription factor IIIA pseudogene 6 7 7 7 q31.31 113329619 113330682 - 118520241 118521304 - 118880187 118881250 - 9847074 100135063 ABBA01057781;AC074390;AMYH02016650;CH236947;NG_007340 pseudo HGNC:49749 INFERRED 1351483 GTF3BAP1 general transcription factor IIIB, associated protein 1 9281 HGNC:11549 1347967 GTF3BAP3 general transcription factor IIIB, associated protein 3 9279 HGNC:11552 1604691 GTF2IRD2B GTF2I repeat domain containing 2B This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 1 1976 + 74508187 74565623 + 75092396 75149817 + 6480464 12477932;14702039;15100712;15146197;15388857;21693764 389524 G8JLN0;Q6EKJ0 ABBA01199119;AC124781;AC245150;AK025076;AK095572;AK098269;AY312850;AY312851;BC048252;BC067859;BC136849;BX647624;CN286208;NM_001003795;XM_005277579;XM_005277580;XM_005277581 AAH48252;AAH67859;AAI36850;AAR36863;AAR36864;BAB15060;BAC04576;BAG53604;NP_001003795;Q6EKJ0;XP_005277636;XP_005277637;XP_005277638 Hs.647017;Hs.647039 5125948 D7S3266 GTF2I repeat domain-containing protein 2B;GTF2IRD2 beta;OTTHUMP00000209066;OTTHUMP00000209069;general transcription factor 2 I repeat domain-containing 2 beta;general transcription factor II-I repeat domain-containing protein 2B;transcription factor GTF2IRD2-beta APPROVED protein-coding ENSG00000174428 HGNC:33125 12327 608900 REVIEWED 732489 GTF3A general transcription factor IIIA The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008] 13 13 13 q12.3-q13.1 9067358 9078526 + 27998681 28009846 + 27424544 27435709 + 1580863;6480464;6484113;8554872 10756201;11170396;11814676;12477932;12711686;12775724;15342556;1589293;16730941;17474147;18029348;18573876;20935630;24250222;2912980;7622052;7789179;8063702;8610146;9171097 2971 B7ZBK4;H7BZ51;H7BZH7;H7C326;Q92664 ABBA01035746;AK057993;AL137059;AMYH02027754;AW627732;BC143711;BP254755;CH471075;D32257;NM_002097;U14134;U20272 AAA21873;AAA75623;BAA06988;EAX08403;EAX08404;EAX08405;NP_002088;Q92664 Hs.445977 1670841;1682485;1725581;2136838;2180034;5014939 G62014;RH1610;RH44696;RH71200;STS-D19678;WI-18818 AP2;TFIIIA OTTHUMP00000200767;OTTHUMP00000200771;general transcription factor iii a;transcription factor IIIA APPROVED protein-coding ENSG00000122034 HGNC:4662 02916 600860 REVIEWED 8655242 GTF3C2-AS1 GTF3C2 antisense RNA 1 2 2 2 p23.3 27405516 27407777 + 27558409 27560670 + 27335542 27337803 + 100505624 ABBA01045202;AC109828;AK098715;AMYH02003476;HG493777;HG493778;HG493779;NR_038427 Hs.666503 ncrna ENSG00000234945 HGNC:40269 VALIDATED 1602026 GTF2IRD2P1 GTF2I repeat domain containing 2 pseudogene 1 7 7 q11.23 72656784 72694144 - 73242751 73280119 - 6480464 15100712 401375 AC006995;AC211485;AY312852;NG_033736 Hs.651178 5125948 D7S3266 GTF2IRD2P APPROVED pseudo HGNC:33127 INFERRED 1349733 GTF3C4 general transcription factor IIIC, polypeptide 4, 90kDa ENCODES a protein that exhibits DNA binding (inferred); enzyme activator activity (inferred); histone acetyltransferase activity (inferred); INVOLVED IN 5S class rRNA transcription from RNA polymerase III type 1 promoter (inferred); gene expression (inferred); histone acetylation (inferred); FOUND IN transcription factor TFIIIC complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; benzo[a]pyrene 9 9 9 q34.13 106087467 106107210 + 135545728 135565471 + 132670341 132690084 + 1580863;6480464 10373544;10523658;12477932;1403646;14702039;15302935;15489334;17081983;17314511;17409385;19454010;19471022;20360068;20487506;21139048;21252943;21549307;21890473;21906983;21963094;21987572;22053931;22505724;22751105;22863883;22939629;22990118;23000965;23349634;23443559;24255178;24457600;24816145;7729686 9329 B3KNH2;F2Z356;Q9UKN8 ABBA01032483;AF142328;AK024655;AK027509;AL160165;AMYH02021812;BC011619;BC022787;BC060821;BC094774;BC104755;BC112245;CH471090;CX755755;NM_012204 AAF05087;AAH11619;AAH22787;AAH94774;AAI04756;AAI12246;BAG51334;EAW88010;EAW88011;NP_036336;Q9UKN8 Hs.656646 1773221;1793030;2175044;5015881;5020885 A006V03;GDB:335751;L17791;PMC18813P2;SHGC-58020 FLJ21002;KAT12;MGC138450;TFIII90;TFIIIC290;TFIIIC90;TFIIICDELTA OTTHUMP00000022434;TF3C-delta;TFIIIC 90 kDa subunit;general transcription factor 3C 4;general transcription factor 3C polypeptide 4;transcription factor IIIC 90 kDa subunit;transcription factor IIIC subunit delta protein-coding HGNC:4667 11998 604892 VALIDATED 1342932 GTF3BAP2 general transcription factor IIIB, associated protein 2 9280 HGNC:11550 736274 GTF3C1 general transcription factor IIIC, polypeptide 1, alpha 220kDa ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN 5S class rRNA transcription from RNA polymerase III type 1 promoter (inferred); gene expression (inferred); rRNA transcription (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; nucleolus; nucleus; INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; cyclophosphamide 16 16 16 p12 26249266 26338586 - 27471934 27561251 - 27460613 27549930 - 632988;1580863;6480464;8554872 8164661 10373544;10493829;10523658;11741993;11965497;12477932;12711686;1403646;1447193;14702039;15302935;15342556;15489334;16169070;16964243;17081983;17314511;17409385;17846119;18029348;18644873;19299493;19322201;19471022;19596686;19725029;19946888;20360068;20467438;20543138;20562859;21139048;21252943;21549307;21653943;21693764;21890473;21900206;21906983;21963094;21987572;22586326;22939629;22990118;23000965;23383273;23966877;24250222;24457600;24816145;25027693;7729686;8127861;9169441;9660958 2975 H3BRD0;H3BU37;H3BU55;I3L1Z3;Q12789 ABBA01017157;ABBA01017158;AC002303;AC002551;AC025275;AK091032;AK123999;AK131479;AMYH02031767;BC044857;BC052642;BC137229;BC151847;BP283960;BX648143;CA414192;CH471145;CR627430;NM_001286242;NM_001520;U02619;U06485;XM_006721042 AAA17985;AAA85638;AAB67637;AAC05811;AAH44857;AAH52642;AAI37230;CAH10517;CAH10771;EAW55744;EAW55745;NP_001273171;NP_001511;Q12789;XP_006721105 Hs.371718 1738495;1739429;1793028;2116225;2127251;2217400 D16S2689;D16S2932E;GTF3C1_3378;PMC18813P1;SHGC-60502;STS-U02619 DKFZp686A111;TFIIIC;TFIIIC220;TFIIICalpha TF3C-alpha;TFIIIC 220 kDa subunit;TFIIIC box B-binding subunit;general transcription factor 3C polypeptide 1;general transcription factor IIIC, polypeptide 1 (alpha subunit);general transcription factor iii c 1;transcription factor IIIC 220 kDa subunit;transcription factor IIIC subunit alpha protein-coding ENSG00000077235 HGNC:4664 07540 603246 VALIDATED 1316627 GTF3C6 general transcription factor IIIC, polypeptide 6, alpha 35kDa RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM, Mar 2008] 6 6 6 q21 112026336 112035665 + 111279763 111289091 + 110958560 110967888 + 6480464 12477932;14702039;15489334;16159877;17409385;21832049;22939629 112495 Q3SWV5;Q969F1 ABBA01026100;AF361492;AF361496;AK057977;AL357515;AMYH02014297;BC011593;BC104655;BQ269752;CH471051;EF137904;NM_138408 AAH11593;AAI04656;AAL57217;AAL57221;ABO33431;BAB71624;EAW48305;NP_612417;Q969F1 Hs.418520 2160960;5124693 DXS6972E;RH69406 C6orf51;TFIIIC35;bA397G5.3 OTTHUMP00000017016;TFIIIC 35 kDa subunit;general transcription factor 3C polypeptide 6;transcription factor IIIC 35 kDa subunit;transcription factor IIIC 35kDa;transcription factor IIIC subunit 6 APPROVED protein-coding ENSG00000155115 HGNC:20872 12886 611784 VALIDATED 1315559 GTPBP1 GTP binding protein 1 This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 22908486 22936274 + 39101733 39129592 + 38705728 38733587 + 1580863;6480464 10591208;10833435;10938096;11042152;12477932;14702039;15461802;15489334;17081983;19946888;21139048;21145461;21832049;21903422;21907836;22145905;24816145;9070279;9820815 9567 B0QY59;F5H257;F5H716;F5H7C0;F8WAZ4;H0YF75;H0YGA8;H0YH10;O00178 ABBA01055533;AF077204;AF370385;AI570660;AK095950;AK096647;AK315704;AL021707;AMYH02038364;BC001701;BC014075;BC016030;BC046350;BF001482;CH471095;CR456501;NM_004286;U87964;XM_005261857;XR_244397 AAB51273;AAD26999;AAH14075;AAQ15221;ACE86490;ACE87171;BAG38066;CAG30387;CAK54529;CAK54828;EAW60261;EAW60262;EAW60263;EAW60264;NP_004277;O00178;XP_005261914 Hs.276925 1705372;1739669;1748391;1797672;2111109;2150162;2191297;5022588;5022651;5023733 AU048745;D11S2921;D22S1123E;D22S412E;D5S1597E;G65738;GTPBP1_1885;MARC_17175-17176:1021303484:1;RH77968;SHGC-83543 GP-1;GP1;HSPC018;MGC20069 G-protein 1;GTP-binding protein 1;OTTHUMP00000028811 APPROVED protein-coding ENSG00000100226 HGNC:4669 03765 602245 REVIEWED 1343562 GTF3C2 general transcription factor IIIC, polypeptide 2, beta 110kDa ENCODES a protein that exhibits DNA binding; INVOLVED IN transcription from RNA polymerase III promoter; transcription, DNA-templated; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN transcription factor TFIIIC complex; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 p23.3 27395828 27426539 - 27548716 27580243 - 27325849 27357034 - 1580863;6480464;8554872 10373544;10523658;12477932;1403646;15342556;15489334;16344560;16822860;16964243;17081983;17314511;17409385;18644873;19471022;20360068;21139048;21549307;21693764;21963094;21988832;22379092;22939629;23000965;24332808;24778252;24816145;7584026;7584028;7729686;8619474;9110174;9169441;9171097;9660958 2976 C9JNH7;C9JQ12;H0Y4Q6;H7C1A9;H7C318;H7C3X9;Q8WUA4 ABBA01045202;AC013413;AC074117;AC109828;AF054988;AK307656;AMYH02003476;BC000212;BC020981;BP249089;BP278201;BT009799;BU632224;BX647092;CH471053;D13636;DA399212;DB286393;NM_001035521;NM_001521;XM_005264272;XM_005264273 AAC09349;AAH00212;AAH20981;AAP88801;AAY24049;AAY24299;BAA02800;EAX00594;EAX00595;EAX00596;NP_001030598;NP_001512;Q8WUA4;XP_005264329;XP_005264330 Hs.745168;Hs.75782 1644060;1751119;2146397;2155981;2173069;2217402 D2S2572;D2S2840;G06474;GTF3C2_3379;RH16563;SHGC-105015 KIAA0011;TFIIIC-BETA;TFIIIC110 OTTHUMP00000123422;TF3C-beta;TFIIIC 110 kDa subunit;general transcription factor 3C polypeptide 2;transcription factor IIIC 110 kDa subunit;transcription factor IIIC subunit beta protein-coding ENSG00000115207 HGNC:4665 05347 604883 VALIDATED 1313350 GTPBP3 GTP binding protein 3 (mitochondrial) This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010] 19 19 19 p13.11 17350088 17355271 + 17445735 17453540 + 17334982 17342731 + 6480464;8554872 11256614;12370316;12477932;1290633;14680828;14702039;15489334;15542390;16189514;16341674;16344560;16713569;18029348;18852288;19209188;20877624;21906983;21988832;22505724;23503679;24816145 84705 B7Z563;M0QXA1;M0QYW1;M0R0S9;M0R161;M0R1X0;Q969Y2 ABBA01051192;AC010463;AF360742;AF360743;AF360744;AF361481;AK027606;AK091035;AK291929;AK297953;AK298485;AK310794;AK311442;AMYH02035702;AY078987;AY078988;BC008924;BC017207;BC019261;BI856784;BM789389;CH471106;DA044241;DA490131;DA666199;DC339966;NG_027824;NM_001128855;NM_001195422;NM_032620;NM_133644 AAH08924;AAH17207;AAH19261;AAK37568;AAK39555;AAK39556;AAK39557;AAL85492;AAL85493;ABM83143;ABM86339;BAB55228;BAF84618;BAH12694;BAH12799;EAW84597;EAW84598;EAW84599;NP_001122327;NP_001182351;NP_116009;NP_598399;Q969Y2 Hs.334885 1674141;1856679;5015861;5020948;5021228;5022651;7185938 D10S16;D11S2921;G35510;GDB:312794;SHGC-32200;SHGC-33572 FLJ14700;FLJ17836;GTPBG3;MSS1;MTGP1;THDF1 GTP-binding protein 3;mitochondrial GTP binding protein;mitochondrial GTP-binding protein 1;tRNA modification GTPase GTPBP3, mitochondrial APPROVED protein-coding ENSG00000130299 HGNC:14880 12255 608536 REVIEWED 1319385 GTF3C3 general transcription factor IIIC, polypeptide 3, 102kDa The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 2 2 2 q33.1 191384968 191420293 - 197627756 197664492 - 196763032 196799768 - 1580863;6480464 10373544;10523658;11965497;12477932;1403646;14702039;15231747;15489334;16344560;17314511;17353931;17409385;17500595;17643375;18644873;18976975;19471022;19521658;19596235;20211142;20360068;20562859;21139048;21252943;21549307;21906983;21963094;22505724;22586326;22939629;23275444;23383273;23443559;24457600;24816145;7729686;8573604 9330 F8WC64;H0YFI7;H7BZV8;H7C0C0;H7C143;Q9Y5Q9 ABBA01062461;AC012486;AF085850;AF133123;AF465407;AK025560;AK027050;AK314718;AL137453;AMYH02005510;AMYH02005511;BC015995;BC026889;BC036952;BC043347;BF594763;BQ024746;BU622956;CH471063;DB078021;NG_030373;NM_001206774;NM_012086;S81493;XM_005246965 AAD41475;AAH15995;AAH43347;AAL73493;AAX88853;BAB15638;BAG37262;CAB70745;EAW70132;EAW70133;EAW70134;NP_001193703;NP_036218;Q9Y5Q9;XP_005247022 Hs.470996;Hs.737375 1698500;2108125;2118580;2127334;2154460;2183156;5093284 A009K42;G32628;GTF3C3_7941;RH102800;RH12123;RH70336;SHGC-33860 TFIIIC102;TFIIICgamma;TFiiiC2-102 OTTHUMP00000163622;OTTHUMP00000205595;TF3C-gamma;TFIIIC 102 kDa subunit;general transcription factor 3C polypeptide 3;transcription factor IIIC 102 kDa subunit;transcription factor IIIC subunit gamma;transcription factor IIIC, 102 kD APPROVED protein-coding ENSG00000119041 HGNC:4666 11997 604888 REVIEWED 1314943 GTPBP2 GTP binding protein 2 GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003] 6 6 6 p21 45139839 45148557 - 43588218 43596977 - 43620481 43629246 - 1580863;6480464;8554872 10833435;11054535;12477932;14574404;14702039;15146197;15489334;21903422;23000965;23455924;24778252;8889548 54676 A8K2K2;H0Y4M5;H0Y5J1;H0Y7A5;H0YF05;Q9BX10;X6RJ09 AB024574;ABBA01050671;AF168990;AJ420518;AK000430;AK290267;AL353602;AL834331;AMYH02013650;BC020980;BC028347;BC032315;BC064968;BU736981;CH471081;CN263880;NM_001286216;NM_019096;XM_006715124 AAF78884;AAH20980;AAH28347;AAH64968;BAA91160;BAB12431;BAF82956;CAD38999;EAX04213;EAX04214;EAX04215;EAX04216;EAX04217;EAX04218;NP_001273145;NP_061969;Q9BX10;XP_006715187 Hs.485449 1654944;1654946;1850026;1850028;2142613 A006I45;D6S2189;G20859;RH46731;WI-20627 MGC74725 GTP-binding protein 2;OTTHUMP00000016486 APPROVED protein-coding ENSG00000172432 HGNC:4670 08465 607434 VALIDATED 1606997 GTPBP10 GTP-binding protein 10 (putative) Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008] 7 7 7 q21.13 84680065 84720716 + 89975341 90020769 + 90346665 90391455 + 6480464;8554872 12477932;14702039;16189514;17054726;17567994;20186120;21145461;21906983;23824729;24250222 85865 A4D1E9;C9J8R7;C9JEQ8;C9JNI1;F8WBB5;F8WBY0;F8WCN4 ABBA01045838;AC002064;AC006153;AF351613;AK093649;AK095561;AK125553;AK294325;AL525056;AMYH02016242;BC004923;BC021573;BC107714;BC144162;CH236949;CH471091;CR933597;NM_001042717;NM_033107;T65158 A4D1E9;AAD15550;AAH04923;AAH21573;AAI07715;AAN76513;BAC04573;BAG57597;CAI45922;EAL24164;EAW76878;EAW76879;EAW76880;EAW76881;EAW76882;NP_001036182;NP_149098 Hs.593547;Hs.709271 1686973;1799318;1803838;1806538;1806540;1807370;1807456;1814486;1815002;1815546;1816134;1816920;1820548;1820668;1824650;1826174;1829466;1829700;1832126;1833072;1833132;1835108;1836146;1840012;1843218;1845208;1845960;1849292;1850023;1858600;2071306;2071308;2071310;2071312;2071314;2071316;2071318;2071320;2071322;2071324;2071326;2071328;2071330;2071332;2071334;2071336;2071338;2071340;2071342;2071344;2071346;2071348;2071350;2071352;2071354;2071356;2071358;2071360;2071362;2071364;2071366;2071368;2071370;2071372;2071374;2071376;2071378;2071380;2071382;2071384;2071386;2071388;2071390;2071392;2071394;2071396;2071398;2071400;2071402;2071404;2071406;2071408;2071410;2071412;2071414;2071416;2071418;2071420;2071422;2071424;2071426;2071428;2071430;2071432;2071434;2071436;2071438;2071440;2071442;2071444;2071446;2071448;2071450;2071452;2071454;2071456;2071458;2071460;2071462;2071464;2071466;2071468;2071470;2071472;2071474;2071476;2071478;2071480;2071482;2071484;2071486;2071488;2071490;2071492;2071494;2071496;2071498;2071500;2071502;2071504;2071506;2071508;2071510;2071512;2071514;2071516;2071518;2071520;2071522;2071524;2071526;2071528;2071530;2071532;2071534;2071536;2071538;2071540;2071542;2071544;2071546;2071548;2071550;2071552;2071554;2071556;2071558;2071560;2071562;2071564;2071566;2071568;2071570;2071572;2071574;2071576;2071578;2071580;2071582;2071584;2071586;2071588;2071590;2071592;2071594;2071596;2071598;2071600;2071602;2071604;2071606;2071608;2071610;2071612;2071614;2071616;2071618;2071620;2071622;2071624;2071626;2071628;2071630;2071632;2071634;2071636;2071638;2071640;2071642;2071644;2071646;2071648;2071650;2071652;2071654;2071656;2071658;2071660;2071662;2071664;2071666;2071668;2071670;2125512;2194202;2194204;2194206;2194208;2194210;2194212;2194214;2194216;2194218;2194220;2194222;2194224;2194226;2194228;2194230;2194232;2194234;2194236;2194238;2194240;2194242;5015861;5016478;5022578;5037552;7185938 D10S16;D1S1423;D8S2279;ECD00508;ECD02830;ECD04226;ECD04227;ECD04656;ECD04700;ECD08273;ECD08532;ECD08809;ECD09107;ECD09509;ECD11349;ECD11409;ECD13423;ECD14197;ECD15864;ECD15982;ECD17201;ECD17678;ECD17708;ECD18708;ECD19234;ECD21190;ECD22817;ECD23821;ECD24200;ECD24501;GDB:1318268;GDB:434012;REN106845;REN106846;REN106847;REN106848;REN106849;REN106850;REN106851;REN106852;REN106853;REN106854;REN106855;REN106856;REN106857;REN106858;REN106859;REN106860;REN106861;REN106862;REN106863;REN106864;REN106865;REN106866;REN106867;REN106868;REN106869;REN106870;REN106871;REN106872;REN106873;REN106874;REN106875;REN106876;REN106877;REN106878;REN106879;REN106880;REN106881;REN106882;REN106883;REN106884;REN106885;REN106886;REN106887;REN106888;REN106889;REN106890;REN106891;REN106892;REN106893;REN106894;REN106895;REN106896;REN106897;REN106898;REN106899;REN106900;REN106901;REN106902;REN106903;REN106904;REN106905;REN106906;REN106907;REN106908;REN106909;REN106910;REN106911;REN106912;REN106913;REN106914;REN106915;REN106916;REN106917;REN106918;REN106919;REN106920;REN106921;REN106922;REN106924;REN106925;REN106926;REN106927;REN106928;REN106929;REN106930;REN106931;REN106932;REN106933;REN106934;REN106935;REN106936;REN106937;REN106938;REN106939;REN106940;REN106941;REN106942;REN106943;REN106944;REN106945;REN106946;REN106947;REN106948;REN106949;REN106950;REN106951;REN106952;REN106953;REN106954;REN106955;REN106956;REN106957;REN106958;REN106959;REN106960;REN106961;REN106962;REN106963;REN106964;REN106965;REN106966;REN106967;REN106968;REN106969;REN106970;REN106971;REN106972;REN106973;REN106974;REN106975;REN106976;REN106977;REN106978;REN106979;REN106980;REN106981;REN106982;REN106983;REN106984;REN106985;REN106986;REN106987;REN106988;REN106989;REN106990;REN106991;REN106992;REN106993;REN106994;REN106995;REN106996;REN106997;REN106998;REN106999;REN107000;REN107001;REN107002;REN107003;REN107004;REN107005;REN107006;REN107007;REN107008;REN107009;REN107010;REN107011;REN107012;REN107013;REN107014;REN107015;REN107016;REN107017;REN107018;REN107019;REN107020;REN107021;REN107022;REN107023;REN107024;REN107025;REN107026;REN107027;REN107028;RH15866;RH67961;RH92338;stSG614567;stSG614568;stSG614569;stSG614570;stSG614571;stSG614572;stSG614573;stSG614574;stSG614575;stSG614576;stSG614577;stSG614578;stSG614579;stSG614580;stSG614581;stSG614582;stSG614583;stSG614584;stSG614585;stSG614586;stSG614587 DKFZp686A10121;FLJ38242;MGC104191;ObgH2;UG0751c10 GTP-binding protein 10;OTTHUMP00000025273;OTTHUMP00000067803;OTTHUMP00000206403;protein obg homolog 2 APPROVED protein-coding ENSG00000105793 HGNC:25106 14262 610920 VALIDATED 1313045 GTF3C5 general transcription factor IIIC, polypeptide 5, 63kDa ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN 5S class rRNA transcription from RNA polymerase III type 1 promoter (inferred); gene expression (inferred); skeletal muscle cell differentiation (inferred); FOUND IN transcription factor TFIIIC complex; INTERACTS WITH methyl methanesulfonate; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q34 106447792 106475620 + 135906062 135933890 + 133030675 133058503 + 6480464 10373544;10523658;12477932;1403646;14702039;15489334;16344560;17409385;17643375;18644873;19454010;19913121;20211142;20360068;20398657;20628086;21139048;21145461;21549307;21890473;21906983;21963094;21987572;22939629;22990118;23000965;23383273;23443559;24816145;7729686;8125298;8619474;9110174 9328 H0Y5D2;H7BY84;Q5T7U0;Q5T7U1;Q5T7U4;Q9Y5Q8 ABBA01032474;AF133124;AJ420443;AK000194;AK024510;AK055092;AK097295;AK225761;AK293980;AK311481;AL162417;AMYH02021822;AY007123;BC006409;BC009741;BC011355;BC017337;BC030157;BQ673969;CH471090;DB194811;NM_001122823;NM_001286709;NM_012087;XM_005272234 AAD41476;AAG01991;AAH09741;AAH11355;AAH17337;AAH30157;ABM82997;ABM86191;BAA91001;BAC04993;BAG51466;BAH11639;EAW88026;EAW88027;EAW88028;EAW88029;NP_001116295;NP_001273638;NP_036219;Q9Y5Q8;XP_005272291 Hs.495417 1735848;1858210;2119010;5096414 D9S982E;G11785;RH16015;RH65689 FLJ20857;TFIIIC63;TFIIICepsilon;TFiiiC2-63 OTTHUMP00000022452;OTTHUMP00000022453;OTTHUMP00000022454;TF3C-epsilon;TFIIIC 63 kDa subunit;general transcription factor 3C polypeptide 5;transcription factor IIIC 63 kDa subunit;transcription factor IIIC subunit epsilon;transcription factor IIIC, 63 kD protein-coding ENSG00000148308 HGNC:4668 16077 604890 VALIDATED 732875 GTPBP4 GTP binding protein 4 GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008] 10 10 10 p15-p14 984242 1013986 + 1034349 1063708 + 988409 1017768 + 632611;1580863;6480464;6907045;8554872 11316846 12429849;12477932;14702039;15324660;15489334;16210410;16385451;17081983;17210637;17353931;18029348;19454010;19460752;19471022;19596686;19738201;20308539;21139048;21145461;21182205;21252943;21282530;21693764;21890473;21903422;21906983;21963094;21987572;22178446;22505724;22586326;22797925;23455922;24457600;24654937;24778252;24816145;25027693;8125298 23560 D2CFK9;Q5T3R7;Q9BZE4 ABBA01035260;ABBA01035261;ABBA01035262;AC022536;AF065393;AF120334;AF325353;AI740474;AK001548;AK001552;AK097093;AK222861;AK295231;AK301721;AK302219;AL359878;AMYH02021985;BC008683;BC021243;BC033784;BC038975;CH471072;DQ496111;NM_012341;XM_006717437 AAC24364;AAD09830;AAH33784;AAH38975;AAK13444;ABF55254;BAA91752;BAD96581;BAG50937;BAG58224;BAG63575;BAH13539;EAW86526;EAW86527;EAW86528;NP_036473;Q9BZE4;XP_006717500 Hs.215766 1677794;2131804;2131806;2164453 RH46996;RH76535;SHGC-64089;STS-H94877 CRFG;FLJ10686;FLJ10690;FLJ39774;NGB;NOG1 G protein-binding protein CRFG;GTP-binding protein NGB;OTTHUMP00000018953;chronic renal failure gene protein;nucleolar GTP-binding protein 1 APPROVED protein-coding HGNC:21535 09976 REVIEWED 1348058 GTS Gilles de la Tourette syndrome ASSOCIATED WITH Tourette Syndrome (inferred) 7240710 2973 1335082;1342097;7185012 D11S907;D11S912;D11S933 HGNC:4671 137580 1606015 GTPBP8 GTP-binding protein 8 (putative) ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); metal ion binding (inferred); INVOLVED IN barrier septum assembly (inferred); GTP catabolic process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH atrazine; elemental selenium; quercetin 3 3 3 q13.2 111118142 111128559 + 112709323 112720221 + 112990477 113001374 + 6480464 11042152;12477932;14702039;20379614;20877624;21832049;24250222 29083 C9J0K3;C9J8V5;F8WBY6;Q8N3Z3;Q9P025 ABBA01061657;AC074044;AF161484;AI367201;AK093419;AK289611;AK292651;AMYH02007442;BC000003;BC010137;BC037163;BG655089;BI830308;BX354218;CA429378;CH471052;CK818022;NM_014170;NM_138485;XR_241486 AAF29099;AAH37163;ABM83233;ABM86432;BAF82300;BAF85340;EAW79652;EAW79653;EAW79654;EAW79655;EAW79656;NP_054889;NP_612494;Q8N3Z3 Hs.127496 5014051;5015619;5037552 D11S3114;D8S2278;D8S2279 HSPC135 GTP-binding protein 8;OTTHUMP00000214617;OTTHUMP00000214618;OTTHUMP00000214632;OTTHUMP00000214633;OTTHUMP00000214634 protein-coding ENSG00000163607 HGNC:25007 13700 VALIDATED 1314719 GTSF1L gametocyte specific factor 1-like ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH fonofos; parathion; terbufos 20 20 20 q13.12 39062229 39063070 - 42354801 42355647 - 43726161 43727007 - 6480464;8554872 12477932 149699 Q9H1H1 AA723626;AA813527;ABBA01052628;AK058060;AL121886;AMYH02037119;BC040049;BQ428678;BX355734;CH471077;HC006828;NM_001008901;NM_176791;XM_005260298 AAH40049;CBH19220;EAW75949;EAW75950;NP_001008901;NP_789761;Q9H1H1;XP_005260355 Hs.447626;Hs.710523 1676830 RH99302 C20orf65;FAM112A;MGC50820;dJ1028D15.4 OTTHUMP00000031030;OTTHUMP00000031031;chromosome 20 open reading frame 65;family with sequence similarity 112, member A;gametocyte-specific factor 1-like protein-coding ENSG00000124196 HGNC:16198 12778 VALIDATED 7251566 GTSE1-AS1 GTSE1 antisense RNA 1 (head to head) INTERACTS WITH dioxygen 22 22 22 q13.31 30598423 30599940 - 46691040 46692557 - 46295143 46296660 - 6480464 15461802;16368877 150384 ABBA01010445;AMYH02038536;BC015721;BY798085;CH471138;CR456421;NR_024009;Z93024 CAG30307;EAW73417 Hs.348663 CN5H6.4 ncrna ENSG00000277232 HGNC:27163 VALIDATED 1353569 GTPBP6 GTP binding protein 6 (putative) This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011] X X;Y X;Y p22.33; Yp11.32 784280 819319 + 221426 230887 - 304750 318787 - 737633;1580863;6480464 12477932 21890473;8125298;9466997 8225 H0Y2S1;H7BYW4;O43824 ABBA01001660;ABBA01005330;ABBA01005331;ABBA01005332;AK024630;AK026462;AK074528;AK223412;AK296003;AK298260;AMYH02038635;BC014636;BG437484;BT007360;BX000483;CH471225;CN356690;CX758592;DN997384;FO681518;NG_034126;NM_012227;XM_006724447;XM_006724868;Y14391 AAH14636;AAP36024;BAC11041;BAD97132;BAG58777;BAG60524;CAA74749;EAW66820;NP_036359;O43824;XP_006724510;XP_006724931 Hs.437145 1702798;1760505;1770826 DXYS142;SHGC-143507;UniSTS:99581 FLJ20977;FLJ22809;FLJ56662;FLJ56805;FLJ90047;PGPL OTTHUMP00000024276;pseudoautosomal GTP-binding protein-like;putative GTP-binding protein 6;putative GTP-binding protein 6-like APPROVED protein-coding ENSG00000178605 HGNC:30189 02128 300124 VALIDATED 1318644 GUCA1A guanylate cyclase activator 1A (retina) This gene plays a role in the recovery of retinal photoreceptors from photobleaching. In the recovery phase, the phototransduction messeneger cGMP is replenished by retinal guanylyl cyclase-1 (GC1). GC1 is activated by decreasing Ca(2+) concentrations following photobleaching. The protein encoded by this gene, guanylyl cyclase activating protein 1 (GCAP1), mediates the sensitivity of GC1 to Ca(2+) concentrations. GCAP1 promotes activity of GC1 at low Ca(2+) concentrations and inhibits GC1 activity at high Ca(2+) concentrations. Mutations in this gene cause autosomal dominant cone dystrophy (COD3); a disease characterized by reduced visual acuity associated with progressive loss of color vision. Mutations in this gene prohibit the inactivation of RetGC1 at high Ca(2+) concentrations; causing the constitutive activation of RetGC1 and, presumably, increased cell death. This gene is expressed in retina and spermatagonia. [provided by RefSeq, Feb 2009] 6 6 6 p21.1 43675605 43700255 + 42123144 42147794 + 42155406 42180056 + 1599353;1580863;6480464;6893539;6907045;7240710;7204681;8554872;8699517 20668007;22074925;9425234 11108966;11146732;11484154;12390029;12445466;12477932;12732716;14574404;15489334;15504042;15505030;15735604;15790869;15953638;16344560;18541533;19459154;20238026;20801516;21928830;23428504;24024198;24352742;24557353;24567338;7983048;9119368;9651312;9702199;9931003 2978 A6PVH5;P43080 ABBA01050734;AK125780;AK313865;AL096814;AMYH02013617;AMYH02013618;AMYH02013619;BC031663;CH471081;DB049592;L36859;L36861;NG_009938;NM_000409;XM_006715073 AAA60541;AAA60542;AAH31663;ABM82228;ABM85413;BAG36593;BAG54246;EAX04084;NP_000400;P43080;XP_006715136 Hs.92858 1657700;2109373;2128773;2138145 GUCA1A_8390;RH47569;RH67862;WI-9373 C6orf131;COD3;CORD14;GCAP;GCAP 1;GCAP1;GUCA;GUCA1;dJ139D8.6 OTTHUMP00000016397;OTTHUMP00000196466;OTTHUMP00000196468;cone dystrophy 3;guanylate cyclase-activating protein, photoreceptor 1;guanylin 1, retina;guanylyl cyclase-activating protein 1 APPROVED protein-coding ENSG00000048545 HGNC:4678 02648 600364;602093 REVIEWED 1350559 GUCA1C guanylate cyclase activator 1C ENCODES a protein that exhibits calcium ion binding (inferred); calcium sensitive guanylate cyclase activator activity (inferred); INVOLVED IN phototransduction, visible light (inferred); positive regulation of guanylate cyclase activity (inferred); regulation of rhodopsin mediated signaling pathway (inferred); PARTICIPATES IN visual phototransduction pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN photoreceptor disc membrane (inferred); INTERACTS WITH lead(0); lead(2+); benzo[a]pyrene (ortholog) 3 3 3 q13.1 107024381 107070447 - 108626491 108672742 - 108907644 108953895 - 1580863;6480464;6907045;8554872 10037746;11860507;12477932;16626734;21697133 9626 C9J7M7;C9JNI2;O95843 AB593147;ABBA01061698;ABBA01061699;AC016948;AC080135;AF110001;AF110002;AF110003;AMYH02007401;AMYH02007402;AV732101;BC103993;BC103994;C20850;CH471052;NM_005459;XM_005247910 AAD19943;AAD19944;AAD19945;AAI03994;AAI03995;ACE87770;ACT64433;BAJ84081;EAW79715;EAW79716;NP_005450;O95843;XP_005247967 Hs.233363 1714085;2107197 GUCA1C__7556;RH119648 GCAP 3;GCAP3;MGC120158;MGC120159 OTTHUMP00000214337;OTTHUMP00000214338;OTTHUMP00000214339;guanylyl cyclase-activating protein 3 protein-coding ENSG00000138472 HGNC:4680 05499 605128 VALIDATED 1349539 GTSCR1 Gilles de la Tourette syndrome chromosome region, candidate 1 (non-protein coding) FOUND IN integral component of membrane (inferred) 18 18 q22.2 68297755 68318093 - 70630519 70650857 - 12682296 220158 Q86UQ5 ABBA01056299;AC091646;AMYH02034942;AW082319;AY262164;LN608668;NM_001278515 AAP13553;NP_001265444;Q86UQ5 Hs.448217 gilles de la Tourette syndrome chromosomal region candidate gene 1 protein APPROVED protein-coding HGNC:18406 VALIDATED 1605883 GTSF1 gametocyte specific factor 1 ENCODES a protein that exhibits metal ion binding (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2-methylcholine; valproic acid; trimellitic anhydride (ortholog) 12 12 12 q13.13 54501575 54519224 - 54849736 54867386 - 54455952 54473602 - 6480464 12477932;14702039;15489334;21890473;23000965;24816145 121355 G3V1V4;Q8WW33 ABBA01008373;ABBA01008374;AC079313;AK057504;AK098819;AMYH02026535;AMYH02026536;BC021179;BC105587;BE503352;CH471054;NM_144594;XM_006719234;XM_006719235 AAH21179;AAI05588;BAC05423;BAG51922;EAW96783;EAW96784;EAW96785;NP_653195;Q8WW33;XP_006719297;XP_006719298 Hs.524476 1672787;1746499;1746507 G64350;G64404;RH45428 FAM112B;FLJ32942 OTTHUMP00000242264;OTTHUMP00000242265;OTTHUMP00000242266;family with sequence similarity 112, member B;gametocyte-specific factor 1 protein-coding ENSG00000170627 HGNC:26565 08150 VALIDATED 1353154 GUCD1 guanylyl cyclase domain containing 1 INTERACTS WITH copper(2+) sulfate; quercetin; benzo[a]pyrene (ortholog) 22 22 22 q11.2 8736128 8750998 - 24936406 24951901 - 24540423 24555935 - 737633;6480464 12477932 14702039;15489334;16344560;17207965;19322201;21139048;21832049;24250222;24743017 83606 B4DL90;B5MCF3;E7EX77;E9PGZ7;Q7Z629;Q96NT3 AB049215;ABBA01055140;ABBA01055141;AK024723;AK025242;AK054681;AK098754;AK294972;AK296893;AMYH02038144;AP000356;BC002924;BC004144;BC015685;BC041568;BC053529;BC070109;BG773056;BQ893876;BU153022;BX346077;C75357;CH471095;DA033557;DA776135;DA937738;HY059446;NM_001284251;NM_001284252;NM_001284253;NM_001284254;NM_001284255;NM_001284256;NM_001284257;NM_031444;NR_104286;XM_005261761 AAH02924;AAH53529;AAH70109;ADQ31918;BAB68411;BAB70791;BAG58044;BAG59452;EAW59665;EAW59666;EAW59667;EAW59668;EAW59669;NP_001271180;NP_001271181;NP_001271182;NP_001271183;NP_001271184;NP_001271185;NP_001271186;NP_113632;Q96NT3;XP_005261818 Hs.9850 1647468;1724669;2135280;2174361;2180133 A006M41;D22S1247;RH121336;RH48891;WI-20262 C22orf13;LLN4;MGC1842 CG13760 gene product [Drosophila melanogaster] homolog;OTTHUMP00000198384;OTTHUMP00000198385;OTTHUMP00000198386;OTTHUMP00000198387;OTTHUMP00000198388;OTTHUMP00000198389;OTTHUMP00000198390;chromosome 22 open reading frame 13;guanylyl cyclase domain-containing protein 1;uncharacterized protein C22orf13 APPROVED protein-coding ENSG00000138867 HGNC:14237 12796 VALIDATED 735414 GUCA2A guanylate cyclase activator 2A (guanylin) INVOLVED IN positive regulation of guanylate cyclase activity (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 1 1 1 p35-p34 40910655 40912688 - 42628362 42630395 - 42162691 42164724 - 1580863;6480464 10601865;11889121;12163390;12463760;12707255;1327879;1409606;14988827;15780094;15901896;19742348;20213926;7566098;7601480;7892222;7947768;8095028;9272623 2980 Q02747 ABBA01023139;AC114492;AMYH02000875;CH471059;M95174;M97496;NM_033553;T28160;X74322 AAA35915;AAA58625;AAI40429;AAI56567;CAC22258;EAX07168;NP_291031;Q02747 Hs.778 2156824;2184776 RH69208;SHGC-12776 GCAP-I;GUCA2 OTTHUMP00000007926;STARA;guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable);guanylate cyclase-activating protein 1;guanylate cyclase-activating protein I;guanylin;prepro-guanylin protein-coding ENSG00000197273 HGNC:4682 00767 139392 VALIDATED 1317826 GUCA1B guanylate cyclase activator 1B (retina) The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009] 6 6 6 p21.1 43703483 43715150 - 42151022 42162694 - 42183284 42194956 - 1580863;6480464;6893539;6907045;7240710;7204681;8547536;8547535;8699517;8554872 20212494;20668007;22074925;23701314 10507726;12107411;12477932;1327879;1409606;14574404;15452722;15505030;15901556;20301590;21405999;9114059;9119368;9698373;9931003 2979 Q7Z3V9;Q9UMX6 ABBA01050733;ABBA01050734;AF173227;AL096814;AMYH02013619;BQ636025;BX537393;CH471081;NG_016216;NM_002098 AAD47279;AAI66640;CAD97635;EAX04085;NP_002089;Q9UMX6 Hs.446529 1337118;1658287;1858412;5015619;5021872;5022651;5037552;7187622 D11S2921;D11S3114;D6S400;D8S2279;RH78652;SHGC-36091;sY3084 DKFZp686E1183;GCAP 2;GCAP2;GUCA2;RP48 OTTHUMP00000016398;guanylate cyclase-activating protein, photoreceptor 2;guanylyl cyclase-activating protein 2 APPROVED protein-coding HGNC:4679 03783 602275;613827 REVIEWED 732908 GUCY1A2 guanylate cyclase 1, soluble, alpha 2 Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 11 11 11 q21-q22 103723340 104055014 - 106544738 106889171 - 106674012 107018445 - 1580863;1300048;6480464;6907045;8554872 10512742;11158065;11572861;11752394;12477932;14702039;15094474;15123239;1683630;17873020;19240061;19948239;20379614;20978832;22426988;22589738;23251661;24669844;7673142;8660992 2977 P33402 ABBA01039889;ABBA01039890;ABBA01039891;ABBA01039892;ABBA01039893;ABBA01039894;AK001875;AK022090;AK025115;AK098142;AMYH02025521;AMYH02025522;AMYH02025523;AMYH02025524;AMYH02025525;AP001282;AP001881;AP003078;AP005014;BC036599;BC047463;BC130484;BC130488;BC144033;CA774108;CH471065;KF455493;NM_000855;NM_001256424;X63282;Z50053 AAI30485;AAI30489;AAI44034;CAA44921;CAA90393;EAW67081;NP_000846;NP_001243353;P33402 Hs.24321 1643824;1646475;1648648;1657598;1657738;1659958;1679958;1687750;1688036;1688182;1690712;1725595;1737857;1738213;1749189;1751305;1770772;1782498;2111782;2111826;2154076;2154078;2156210;2172947;2173159 A005X43;D11S1042;D11S2058;D11S3461;D11S3847;D11S4423;D11S4477;D11S4503;G06596;G20584;G62019;RH11863;RH39888;RH68343;RH79569;RH80431;RH93629;SHGC-105164;SHGC-110874;SHGC-34712;SHGC-6008;STS-H49252;STS-Z50053;WI-11973;WI-19175 GC-SA2;GUC1A2 GCS-alpha-2;OTTHUMP00000232532;OTTHUMP00000232533;OTTHUMP00000232534;guanylate cyclase soluble subunit alpha-2;soluble guanylyl cyclase alpha2 subunit APPROVED protein-coding ENSG00000152402 HGNC:4684 03146 601244 REVIEWED 732506 GUCY1B2 guanylate cyclase 1, soluble, beta 2 (pseudogene) ENCODES a protein that exhibits GTP binding (inferred); guanylate cyclase activity (inferred); heme binding (inferred); INVOLVED IN blood coagulation (inferred); cGMP biosynthetic process (inferred); intracellular signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 13 13 13 q14.3 32617656 32689305 - 51568647 51640293 - 50994511 51066157 - 1580863;1300048;6480464;8554872 10449911;10677588;10717006;10777682;18565106;1980215;20451256;9889008 2974 O75343 ABBA01051042;ABBA01051043;AF038499;AF218383;AI247180;AK296746;AL137881;AL160157;AMYH02028028;AMYH02028029;CH471075;NR_003923 AAD09440;AAF66105;BAG59330;EAX08865 Hs.411573 1654715;1779444;1782858;2108127 GUCY1B2_8389;SHGC-144502;SHGC-153425;WI-11681 GC-SB2 APPROVED pseudo ENSG00000123201 HGNC:4686 07542 603695 VALIDATED 1350308 GTSE1 G-2 and S-phase expressed 1 The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008] 22 22 22 q13.2-q13.3 30600021 30634091 + 46692638 46729596 + 46296741 46333699 + 1580863;6480464;6907045;8554872 10591208;10974554;10984615;12477932;12750368;14702039;14707141;15146197;15231747;15302935;15461802;15489334;15790807;15998911;16344560;16964243;19531213;19615732;19913121;19946888;20018861;20577264;20628086;20800603;21139048;21693764;21890473;22292647;22990118;23236459;24250222;24816145;8125298;8889548 51512 Q9NYZ3 ABBA01010445;AF223408;AK025563;AK222806;AK303087;AK315550;AL031588;AL031844;AMYH02038536;AY927425;AY927426;AY927427;BC006325;BC069212;BC075828;BE390871;BG718574;BG770679;BQ049956;BU621031;BX329502;CA419902;CF145254;CH471138;CN333997;CT841519;CX866545;CX871575;DA697736;DB091686;DB152041;NM_016426;XM_005261627;Z93024 AAF31459;AAH06325;AAH75828;ABM83697;ABM87019;BAD96526;BAG37928;BAG64198;CAJ86449;CAK54530;CAK54829;EAW73418;EAW73419;EAW73420;EAW73421;NP_057510;Q9NYZ3;XP_005261684 Hs.386189;Hs.439524 1686198;1687626;1699512;2109371 GTSE1_9728;RH103350;RH93290;RH93827 B99 G2 and S phase-expressed protein 1;OTTHUMP00000197503;protein B99 homolog APPROVED protein-coding ENSG00000075218 HGNC:13698 09593 607477 REVIEWED 68653 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 4 4 4 q31.1-q31.2 153919477 153989823 + 156587862 156658214 + 155666710 155737062 + 1580863;1300048;6480464;6907045;8554872;8699517 10717483;10828587;12107412;12477932;1352257;14702039;15201957;15381706;15489334;16344560;18550612;19478201;20964618;21414799;21725643;21794866;21909110;21909115;21988832;22174378;22223482;22690686;22751097;24236047;24581742;24733395;8097486;8613461;9742212 2982 B3KU69;D6RF78;J3KPQ8;J3KQW2;Q02108;Q6PJR4 ABBA01070172;ABBA01070173;ABBA01070174;ABBA01070175;AC104083;AK096588;AK124244;AK226125;AK309950;AK312952;AMYH02010342;BC012627;BC028384;BC039414;BC095395;BX647200;BX649180;CD671731;CH471056;DA518091;DA793192;DA908917;HG497439;NG_034128;NM_000856;NM_001130682;NM_001130683;NM_001130684;NM_001130685;NM_001130687;NM_001256449;U58855;X66534;XM_005262955;XM_005262956;XM_005262957;XM_006714196;XM_006714197;XM_006714198;Y15723 AAB94794;AAH12627;AAH28384;ADZ15461;BAG53331;CAA47145;CAA75738;EAX04892;EAX04893;EAX04894;EAX04895;EAX04896;EAX04897;NP_000847;NP_001124154;NP_001124155;NP_001124156;NP_001124157;NP_001124159;NP_001243378;Q02108;XP_005263012;XP_005263013;XP_005263014;XP_006714259;XP_006714260;XP_006714261 Hs.24258;Hs.740815 1342367;1645824;1670778;1670921;1672004;1675407;1775488;1777490;2110443;2168159;2174249 A006Q21;D4S3016;GUCY1A3_8391;RH16630;SHGC-11990;SHGC-59801;SHGC-67305;SHGC-67697;SHGC-67982;WI-18619;WI-19855 GC-SA3;GUC1A3;GUCA3;GUCSA3;GUCY1A1;MYMY6;RP11-588K22.2 GC-S-alpha-1;GCS-alpha-1;GCS-alpha-3;OTTHUMP00000220596;OTTHUMP00000220597;OTTHUMP00000220600;OTTHUMP00000220601;OTTHUMP00000220603;OTTHUMP00000220604;OTTHUMP00000220605;OTTHUMP00000220606;OTTHUMP00000220608;guanylate cyclase soluble subunit alpha-3;soluble guanylate cyclase large subunit APPROVED protein-coding ENSG00000164116 HGNC:4685 00768 139396;615750 REVIEWED 1606377 GUCY2EP guanylate cyclase 2E, pseudogene This olfactory specific guanylyl cyclase is part of the mammalian olfactory system and and encodes a protein involved in chemosensation in rodents. The gene has become inactivated to become a pseudogene is humans and most primates. [provided by RefSeq, Oct 2008] 11 11 11 q13.5 73699002 73740493 - 76391210 76432833 - 76680166 76721789 - 6480464 17849013;18085818;20012162;8838319;9153227 390226 Q3C1W8 AB231718;ABBA01017449;AMYH02025129;AP001189;NR_024042 BAE46879 Hs.440026 1335815;1684483;1704404;1762269;1762271;1779222;2121382;2153251;7186274 D11S2011;D11S356;D11S4179;D11S4396;D11S527;SHGC-146126;SHGC-146127;SHGC-152858;SHGC-79725 GC-E;GCD;GUCY2E APPROVED pseudo HGNC:4690 601138 VALIDATED 731814 GUCY1B3 guanylate cyclase 1, soluble, beta 3 This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 4 4 4 q31.3-q33 154011736 154060401 + 156680126 156728783 + 155758974 155807631 + 1580863;1300048;6480464;6907045 10977868;11572861;12477932;12676772;1352257;15381706;15489334;16528291;1680753;18029348;19478201;20024606;20063108;20105301;21832049;21858179;21909110;21909115;22223482;22426988;22690686;23179318;24733395;8097486;8613461;8889548;9742212 2983 B7Z685;D6RC99;E9PCN2;Q02153 ABBA01070176;ABBA01070177;AC104083;AC114761;AF020340;AI189698;AK296680;AK299916;AK300296;AK307838;AK315199;AK315944;AMYH02010343;AMYH02010344;BC026332;BC047620;BC060835;BM673988;CH471056;DB536632;DC317249;DC317683;DC342619;NM_000857;NM_001291951;NM_001291952;NM_001291953;NM_001291954;NM_001291955;X66533;XM_005262959 AAB94877;AAH47620;BAG37638;BAH12412;BAH13171;BAH13254;BAH14315;CAA47144;EAX04888;EAX04889;EAX04890;EAX04891;NP_000848;NP_001278880;NP_001278881;NP_001278882;NP_001278883;NP_001278884;Q02153;XP_005263016 Hs.77890 1652187;1725749;2146854;2181417;2219108 G62065;GUCY1B3__6678;SHGC-59802;STS-X66533;WI-19177 GC-S-beta-1;GC-SB3;GUC1B3;GUCB3;GUCSB3;GUCY1B1 GCS-beta-1;GCS-beta-3;OTTHUMP00000220584;OTTHUMP00000220586;OTTHUMP00000220587;OTTHUMP00000220588;OTTHUMP00000220590;OTTHUMP00000220591;OTTHUMP00000220593;guanylate cyclase soluble subunit beta-1;guanylate cyclase soluble subunit beta-3;soluble guanylate cyclase small subunit APPROVED protein-coding ENSG00000061918 HGNC:4687 00769 139397 VALIDATED 1349301 GUK2 guanylate kinase 2 2988 HGNC:4694 139280 1606865 GUCY2GP guanylate cyclase 2G, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); tunicamycin (ortholog) 10 10 10 q25.2 107795465 107843881 - 114067936 114116353 - 112308178 112356595 - 6480464 19089325;19828552;20210993 390003 ABBA01063005;ABBA01063006;AL157786;AMYH02023815;DY655407;DY655429;EG327740;KF459740;NR_028134 Hs.534691 GUCY2G APPROVED pseudo ENSG00000243316 HGNC:31863 VALIDATED 1343485 GUCY2D guanylate cyclase 2D, membrane (retina-specific) This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008] 17 17 17 p13.1 7933553 7951223 + 7905988 7923658 + 8002670 8020340 + 1580863;1599624;6480464;6893539;6907045;7240710;8554872;8699517 11565546;22074925 10037711;11035546;11485301;11709018;12365911;12552567;12623820;1356371;15111605;15123990;15512997;15556616;16272259;16505055;17041576;17474147;17651254;17684531;17724218;18332321;18487367;18500817;18541533;19111294;19436054;19753312;19959640;20201926;20301475;20453000;20517349;20588308;20801516;21124868;21552474;21671801;22194653;22695961;23035049;23328348;23686677;23734073;23815670;7777544;7806240;8554074;8586428;8641699;8889548;8944027;9097965;9391039;9618177;9683616;9698373;9888789;9931003 3000 Q02846 ABBA01054894;ABBA01054895;AC104581;AJ222657;AMYH02032918;BM931704;CH471108;L26921;M92432;NG_009092;NM_000180 AAA60366;AAA60547;AAI48422;CAA10914;EAW90103;NP_000171;Q02846 Hs.592109 1337214;1338613;1657754;1663521;1722341;1722355;1744061;2130759;7185312;7186002 D17S796;D17S938;G60239;G60247;GDB:385404;SHGC-12631;SHGC-31356;WI-14061 CORD5;CORD6;CYGD;GUC1A4;GUC2D;LCA;LCA1;RCD2;RETGC-1;ROS-GC;ROS-GC1;ROSGC;retGC OTTHUMP00000135309;cone rod dystrophy 6;guanylate cyclase 2D, retinal;retinal guanylyl cyclase 1;rod outer segment membrane guanylate cyclase APPROVED protein-coding ENSG00000132518 HGNC:4689 02550 204000;600179;601777 REVIEWED 736719 GUCA2B guanylate cyclase activator 2B (uroguanylin) This gene encodes a member of the guanylin family, and is expressed in the stomach and intestine. This protein functions as an endogenous ligand for the guanylate cyclase-C receptor and stimulates an increase in cyclic GMP, a key component of several intracellular signal transduction pathways. It maybe involved in salt and water secretion into the intestinal lumen as well as the renal tubules, and thus regulate electrolyte homeostasis in these tissues. [provided by RefSeq, Oct 2011] 1 1 1 p34-p33 40901379 40903782 + 42619092 42621495 + 42153421 42155824 + 704404;1580863;6480464;7204681;8554872 20668007 11380922;11431160;11889121;12477932;12548407;15489334;15780094;17582287;18037771;7589507;8141334;8519795;8605041;9268639;9328941;9622502;9698373;9774236 2981 Q16661 ABBA01023139;AC114492;AMYH02000875;BC069301;BC093779;BC093781;CH471059;NM_007102;U34279;U55058;Z50753;Z70295 AAC50416;AAC51729;AAH69301;AAH93779;AAH93781;CAA90629;CAA94311;EAX07169;NP_009033;Q16661 Hs.32966 1678049;2157142 RH91811;SHGC-74666 GCAP-II;UGN OTTHUMP00000007927;guanylate cyclase activator 2B;prepro-uroguanylin;uroguanylin APPROVED protein-coding ENSG00000044012 HGNC:4683 03170 601271 VALIDATED 1602319 GUF1 GUF1 GTPase homolog (S. cerevisiae) ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); ribosome binding (inferred); INVOLVED IN GTP catabolic process (inferred); positive regulation of translation (inferred); translation (inferred); FOUND IN mitochondrial inner membrane (inferred); mitochondrial matrix (inferred); INTERACTS WITH atrazine; cobalt dichloride; methyl methanesulfonate 4 4 4 p12 45128456 45150721 + 44680433 44702944 + 44678416 44700927 + 6480464 12477932;14702039;15489334;16344560;17203973;18029348;20877624;22797925;8125298;8553703 60558 D6RBJ0;Q8N442 ABBA01014311;ABBA01014312;AC096586;AK001607;AK023282;AK025248;AK225314;AK308667;AMYH02009137;BC012338;BC036768;CH471069;DA997676;NM_021927;XM_005248122 AAH36768;BAB14507;BAB15090;EAW93017;EAW93018;NP_068746;Q8N442;XP_005248179 Hs.546419 EF-4;FLJ13220 GTP-binding protein GUF1 homolog;GTPase GUF1;GTPase of unknown function 1;OTTHUMP00000158768;elongation factor 4 homolog;ribosomal back-translocase;translation factor GUF1, mitochondrial protein-coding ENSG00000151806 HGNC:25799 07821 VALIDATED 732111 GUCY2C guanylate cyclase 2C (heat stable enterotoxin receptor) ENCODES a protein that exhibits ATP binding (inferred); GTP binding (inferred); guanylate cyclase activity (inferred); INVOLVED IN cGMP biosynthetic process (inferred); intracellular signal transduction (inferred); protein phosphorylation (inferred); PARTICIPATES IN purine metabolic pathway; ASSOCIATED WITH Abdominal pain (inferred); Autosomal dominant inheritance (inferred); Autosomal recessive inheritance (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; menadione; trichostatin A 12 12 12 p12 19910604 19994546 - 14765566 14849519 - 14612632 14696585 - 1580863;1300048;6480464;6907045;8699517;7240710;8554872 10601865;10737800;11042348;11431160;11478887;11889121;11950846;12163327;12444076;12477932;12649275;14581363;14748740;15825168;16618413;1680854;16899600;1718270;19620276;19648115;19694825;19895223;21307149;21533822;21577013;21901559;22384056;22436048;22521417;23150200;23269669;24085786;24217248;7761400;8381596;8605253;8661067;8962140 2984 P25092 ABBA01067881;ABBA01067882;AC007545;AC010168;AK310034;AMYH02026094;AW848739;BC136544;BC136545;CH471094;JC193498;M73489;NM_004963;S57551;U20230 AAA36655;AAB19934;AAC50381;AAI36545;AAI36546;CDM22032;EAW96324;NP_004954;P25092 Hs.524278 1651593;1853834;2106485;2127843;2131017 D12S1832;D12S1894;G41308;GUCY2C__6679;STS-M73489 DIAR6;GC-C;GUC2C;STAR;hSTAR MECIL;MUCIL;OTTHUMP00000239321;STA receptor;guanylate cyclase 2c;guanylyl cyclase C;heat-stable enterotoxin receptor;intestinal guanylate cyclase protein-coding ENSG00000070019 HGNC:4688 07529 601330;614616;614665 VALIDATED 1349088 GULOP gulonolactone (L-) oxidase, pseudogene This gene is nonfunctional in humans and other primates. In most mammalian species the corresponding gene encodes L-gulono-gamma-lactone oxidase which catalyzes the last step of ascorbic acid biosynthesis. The human gene is a remnant that lacks five of twelve exons found in functional rodent genes. The loss of enzyme activity results in hypoascorbemia or the inability to synthesize vitamin C. [provided by RefSeq, Nov 2010] 8 8 8 p21.1 26395229 26406690 + 27435128 27446590 + 27577611 27589073 + 6480464;7240710 14703305;20210993;3214183;8175804 2989 ABBA01005588;AF311103;AMYH02017672;D17460;NG_001136 1761375 SHGC-145392 GULO SCURVY APPROVED pseudo HGNC:4695 240400 INFERRED 731765 GUCY2F guanylate cyclase 2F, retinal The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008] X X X q22 109095739 109204892 - 108616135 108725285 - 109372906 109482056 - 1580863;704404;1300048;6480464;6893539;6907045;8554872 22074925 12477932;15772651;16941478;17868328;19351817;20467438;7777544;8838319;9153227;9698373 2986 P51841 ABBA01043501;ABBA01043502;ABBA01043503;ABBA01043504;ABBA01043505;ABBA01043506;ABBA01043507;ABBA01043508;AL031387;AMYH02040225;BC144241;CH471120;L37378;NG_009175;NM_001522;XR_244473 AAA74451;AAI56675;EAX02681;NP_001513;P51841 Hs.123074 1694086;1719689;1791069;1791071 AL035131;BKT58;BKT59;RH123533 CYGF;GC-F;GUC2DL;GUC2F;RETGC-2;ROS-GC2 OTTHUMP00000023839;guanylate cyclase 2D-like, membrane (retina-specific);guanylate cyclase F;retinal guanylyl cyclase 2;rod outer segment membrane guanylate cyclase 2 APPROVED protein-coding ENSG00000101890 HGNC:4691 02078 300041 REVIEWED 5133591 GUSBP12 glucuronidase, beta pseudogene 12 7 7 7 p11.2 55985229 55988074 - 57268531 57271376 - 57200824 57203669 - 9847074 642007 ABBA01028302;AC099654;AMYH02015777;NG_011667 pseudo HGNC:42326 INFERRED 5133581 GUSBP10 glucuronidase, beta pseudogene 10 7 7 p11.2 57233377 57247863 - 57165670 57180156 - 9847074 642006 ABBA01028298;ABBA01028299;AC099654;AMYH02015776;AMYH02015777;DW009603;EG328188;EG328189;NR_030766 Hs.562648 1705446;2143509 GDB:1317750;SHGC-83805 pseudo HGNC:42324 PROVISIONAL 1320084 GUK1 guanylate kinase 1 The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 1 1 1 q32-q41 201518174 201526898 + 228327668 228336656 + 228139967 228148955 + 1580863;5147874;6480464;6907045 17465459 12107411;12477932;15231747;15489334;16341674;16832584;211390;21139048;21565611;2164269;21890473;24816145;6249178;6260205;8647247;8663313 2987 B1ANG9;B1ANH0;B1ANH2;B1ANH3;B1ANH5;B1ANH6;Q16774;Q6IBG8 ABBA01005831;AK124677;AK125698;AK303845;AL359510;AL832986;AMYH02002837;AW083682;BC006249;BC007369;BC009914;BC069001;BC091480;BE780558;BI771824;BM790067;BQ638787;BU162698;BU194785;BU931096;CH471098;CR456836;CR542006;L76200;NM_000858;NM_001159390;NM_001159391;NM_001242839;NM_001242840;U66895;XM_005273103;XM_005273104;XM_005273105;XM_005273106 AAC37598;AAC50659;AAH06249;AAH07369;AAH09914;AAH91480;BAG64788;CAG33117;CAG46803;CAH56207;EAW69851;EAW69852;EAW69853;EAW69854;EAW69855;EAW69856;EAW69857;EAW69858;EAW69859;NP_000849;NP_001152862;NP_001152863;NP_001229768;NP_001229769;Q16774;XP_005273160;XP_005273161;XP_005273162;XP_005273163 Hs.376933 1678323;1770778;2137282 RH78169;RH80270;SHGC-76460 FLJ42686;FLJ43710;GMK ATP:GMP phosphotransferase;GMP kinase;OTTHUMP00000037504;OTTHUMP00000037738;OTTHUMP00000037739;OTTHUMP00000037740;OTTHUMP00000037741;OTTHUMP00000037742;OTTHUMP00000037743;OTTHUMP00000037745;OTTHUMP00000037746;OTTHUMP00000037747;OTTHUMP00000037748;OTTHUMP00000037750;OTTHUMP00000037751;guanylate kinase APPROVED protein-coding ENSG00000143774 HGNC:4693 00755 139270 REVIEWED 1606696 GUSBP1 glucuronidase, beta pseudogene 1 ENCODES a protein that exhibits hydrolase activity, hydrolyzing O-glycosyl compounds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); nervous system development (inferred); skeletal system development (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cadmium atom; cytarabine 5 5 5 p14.3 21450280 21454118 + 21459589 21589481 + 21459480 21589372 + 6480464 12477932;14702039;15372022;15489334;16169070;16344560;22990118;7894161;7977382;8565635 728411 B7ZVW5;Q15486 ABBA01054507;ABBA01054508;ABBA01054509;ABBA01054510;ABBA01066575;ABBA01069172;AC091946;AC138951;AK095656;AK290693;AMYH02011004;AMYH02011005;BC038977;BC052307;BC064850;BC070045;BC094818;BC147000;BQ012501;BX109638;DA358891;KF459894;NR_027026;NR_027027;NR_027028 BAF83382;BAG53099 Hs.88181 1673753;1683972;1690720;5019042;5111991;5113395;5119357;5119377;5119411;5122601 AL031505;D5S2202E;D5S2249E;D5S2302E;D6S2031;G43513;G43646;RH26297;RH70780;RH94059 SMA3 pseudo ENSG00000183666 HGNC:13670 VALIDATED 1604454 GUSBP2 glucuronidase, beta pseudogene 2 INTERACTS WITH aflatoxin B1; methyl methanesulfonate; valproic acid 6 6 p21 26839266 26924333 - 26871487 26956554 - 6480464 12477932;14574404;7680524 387036 AL133255;AMYH02013374;BC034017;BC067351;BC140728;BC171739;NR_003504 AAI71739 Hs.675815 GUSBL1;GUSBP4;MGC22265;SMA3-L;SMAC3L;SMAC3L2;b55C20.1;bA239L20.1;bA239L20.5;bGLU-Lp APPROVED pseudo ENSG00000241549 HGNC:18792 VALIDATED 1606065 GUSBP5 glucuronidase, beta pseudogene 5 4 4 4 q31.21 141810632 141812620 + 144480625 144482613 + 143559472 143561460 + 12477932;19404257 441046 ABBA01070003;AC139713;AMYH02010235;BC025996;NR_003675 Hs.135705 GYPELOC441046 APPROVED pseudo ENSG00000236296 HGNC:42319 17402 VALIDATED 5133496 GUSBP11 glucuronidase, beta pseudogene 11 This transcribed pseudogene is similar to two functional genes. The 5' portion of the pseudogene is related to glucuronidase, beta, and the 3' portion is related to immunoglobulin lambda-like polypeptide 1. [provided by RefSeq, Jul 2011] 22 22 22 q11.23 7819764 7898705 - 23980674 24059610 - 23638487 23717423 - 6480464 12477932;14702039;2511029;8678981 91316 Q6P575 ABBA01055117;ABBA01055118;AK025313;AK056875;AK091837;AK125808;AK300413;AMYH02038130;AMYH02038131;AMYH02038132;AP000346;AP000347;BC050388;BC063045;BX538181;CR933599;DC322250;KC877945;NR_024448;S82637;X52203;X52204 AAD14410;BAG62142 Hs.148656 1682878;1687628;1754617;1786256;2136927;2137589;2148536;2156990;2157866;2162015;5015619;5020919;5022322;5024052;5037552;5117238 AF021122;D11S2560;D11S3114;D20S608;D8S2279;GDB:452624;RH40675;RH46913;RH71379;RH78546;RH80784;SHGC-132956;SHGC-144290;SHGC-58010;STS-M27749;WI-22687 FLJ52668 APPROVED pseudo ENSG00000228315 HGNC:42325 VALIDATED 1350401 GUSBP4 glucuronidase, beta pseudogene 4 INTERACTS WITH valproic acid 6 6 6 p11.2 1133006 1135424 - 58246159 58287724 - 57945835 57948958 - 6480464 10737800;12477932;14702039;16344560;7680524 375513 ABBA01018452;AK023611;AK026691;AL021368;AL162041;AL831827;AMYH02013786;AMYH02013787;AW955360;BC011838;BC017330;BC030061;BC065547;BC144584;BC144585;BI756196;BI907421;BM553931;BQ574062;CA334877;CH878343;DA613065;DB060896;NR_003660;NR_125727;NR_125728;NR_125729;XR_427958;XR_432033 EAW50460;EAW50461;EAW50462;EAW50463;EAW50464;EAW50465;EAW50466;EAW50467;EAW50468;EAW50469;EAW50470 Hs.561539 1683667;5111965 G43523;RH66588 C6orf216;DKFZp547L1213;FLJ13549;FLJ23038;GUSBL2;SMA3-L;SMAC3L;b55C20.2 APPROVED pseudo HGNC:18220 16667 VALIDATED 5133611 GUSBP7 glucuronidase, beta pseudogene 7 5 5 q21.1 99401943 99402121 - 100066239 100066417 - 100132456 AC092278;AMYH02011856;NG_011665 pseudo HGNC:42321 INFERRED 5133629 GUSBP8 glucuronidase, beta pseudogene 8 5 5 q21.1 98868332 98870071 + 99532628 99534367 + 441066 ABBA01069189;AC114324;AMYH02011851;NG_011668 pseudo HGNC:42322 INFERRED 1351052 GUSM glucuronidase, beta (mouse) modifier 2991 HGNC:4697 737258 GUSB glucuronidase, beta This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014] 7 7 7 q21.11 66666375 66688005 + 65425671 65447301 - 65960684 65982314 - 704404;1580863;1300048;6480464;6907045;7240710;8554872;8699517 10562416;10961372;11238657;11513863;12477932;12522561;12690205;12695355;12716937;12754519;12905469;1311180;14502216;14612292;1465145;14702039;14718574;15314220;15342556;15489334;16272959;16335952;1702266;18029348;18591914;19056867;1916806;19224584;19946888;21073651;21890473;21906983;21963094;21988832;22268729;22525089;24195516;2833520;3468507;3924735;3987656;401508;7680524;8111412;8111413;8125298;8348154;8505339;8537326;8599764;8644704;8889548;9016822;9152401;9268591 2990 F2Z3L6;F8WBK6;P08236 AA947121;ABBA01049009;ABBA01049010;ABBA01049011;AC073261;AK096764;AK223406;AK300223;AK303819;AK311273;AK312752;AMYH02015894;BC014142;BM719712;BP284405;CD014092;CD014093;CD014094;CH236961;CH471140;DC346632;M10618;M15182;M65002;NG_016197;NM_000181;NM_001284290;NM_001293104;NM_001293105;NR_120531;S72462;XM_005250297;XR_242233 AAA52561;AAA52621;AAA52622;AAD14101;AAH14142;AAQ96851;ABM83867;ABM87189;BAD97126;BAG35619;BAG61991;BAG64768;EAL23740;EAX07949;EAX07950;EAX07951;NP_000172;NP_001271219;NP_001280033;NP_001280034;P08236;XP_005250354 Hs.255230 1681267;1687628;2107199;2129952;2139152;5122140 D5S578;D7S2793;GUSB;GUSB_7797;RH40675;RH40687 BG;FLJ39445;MPS7 OTTHUMP00000159848;OTTHUMP00000210106;beta-D-glucuronidase;beta-G1;beta-glucuronidase APPROVED protein-coding ENSG00000169919 HGNC:4696 02018 253220;611499 REVIEWED 1602952 GVINP1 GTPase, very large interferon inducible pseudogene 1 ENCODES a protein that exhibits GTP binding (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); ciguatoxin CTX1B (ortholog) 11 11 11 p15.4 6853465 6862205 - 6734370 6743110 - 6713139 6721879 - 6480464 12874213;14702039;19369598;21145461 387751 Q7Z2Y8 ABBA01028671;AC091564;AK023435;AL833700;AL834507;AMYH02024273;BX538318;BX538342;NR_003945 BAB14573;CAD98105;Q7Z2Y8 Hs.494757;Hs.721746 1712817;5022578 D1S1423;RH120124 FLJ13373;GVIN1;GVIN1P;VLIG-1;VLIG1 APPROVED pseudo ENSG00000254838 HGNC:25813 PROVISIONAL 5133544 GUSBP9 glucuronidase, beta pseudogene 9 5 5 q13.2 70498024 70503957 - 71202197 71208130 - 12477932;15146197;8889548 100049076 AC139463;AC145138;AC146335;AC146949;AC243922;AMYH02011534;AW500063;BC104473;CF141910;CN312642;NR_033968 Hs.529793;Hs.665231 MGC129979 pseudo HGNC:42323 VALIDATED 5129242 GXYLT1P1 glucoside xylosyltransferase 1 pseudogene 1 13 13 13 q11 369135 370117 - 19297860 19298842 - 18723720 18724702 - 100101111 ABBA01068528;AC245149;AL391382;NG_006142 pseudo HGNC:39676 INFERRED 2796334 GUSBP3 glucuronidase, beta pseudogene 3 INTERACTS WITH cadmium atom; silicon dioxide; valproic acid 5 5 q13.2 68935290 68941896 - 69639463 69646069 - 6480464 12477932;14702039;15342556;17213182;22990118;7552146;7818533;7977382 653188 AC118459;AC139495;AK124130;AK289965;AMYH02011496;AMYH02011497;BC051369;BT006760;DT218991;L40518;NR_027386;U21555;X83299 AAP35406;ABM92191;BAF82654;CAA58278 Hs.631974;Hs.652536;Hs.654588 1721607;5014039;5017352;5020885;5119373;5120500;5122601 AL031505;D22S1584;D5F147S1;D5S2237E;G59813;L17791;WI-19224 FLJ42136;MGC22265 pseudo ENSG00000253203 HGNC:37301 VALIDATED 5129245 GXYLT1P2 glucoside xylosyltransferase 1 pseudogene 2 21 21 21 q11.2 417262 419245 + 15195992 15197975 - 13823671 13825654 - 441958 ABBA01057063;AC245051;AL109748;NG_006139 pseudo HGNC:39677 INFERRED 1606923 GXYLT1 glucoside xylosyltransferase 1 GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010] 12 12 12 q12 41277461 41340510 - 42475647 42538673 - 42081845 42144871 - 6480464;6907045;8554872 12477932;14702039;16196087;19940119;21139048;2283726;2341393;24250222;24816145;2649653;8218172 283464 Q4G148 ABBA01031395;ABBA01031396;AC023513;AK021504;AK021752;AK125141;AL832209;AMYH02026350;AMYH02026351;AMYH02026352;BC015597;BC030023;BC039145;CH471111;NM_001099650;NM_173601 AAH15597;AAH30023;AAH39145;BAG54154;EAW57832;EAW57833;NP_001093120;NP_775872;Q4G148 Hs.259347 1723067;1746883;1849244;1856549;2115559 G64796;RH121885;RH44739;STS-N66970;WI-21513 FLJ43151;GLT8D3 OTTHUMP00000240951;OTTHUMP00000240952;glycosyltransferase 8 domain containing 3;glycosyltransferase 8 domain-containing protein 3 APPROVED protein-coding ENSG00000151233 HGNC:27482 613321 VALIDATED 8553169 GXYLT1P4 glucoside xylosyltransferase 1 pseudogene 4 9 9 p12 43007108 43008297 - 66026530 66027719 - 100132441 AL136317;FP325345;NG_021615 pseudo HGNC:50423 INFERRED 8553164 GXYLT1P6 glucoside xylosyltransferase 1 pseudogene 6 9 9 q21.11 69501018 69502207 + 64488600 64489789 + 100132672 AC244112;AL773524;NG_021660 pseudo HGNC:50425 INFERRED 7242322 GVQW1 GVQW motif containing 1 p21.1 101362076 Q8N7I0 AK098413 BAC05300;Q8N7I0 Hs.664395 5022200;5037552 D8S2279;L18426 TIGD1L2;bA205M20.5 tigger transposable element derived 1-like 2 APPROVED protein-coding HGNC:31424 4145629 GVINP2 GTPase, very large interferon inducible pseudogene 2 11 11 11 p15.4 6889283 6890706 + 6769356 6771600 + 6748125 6750369 + 19369598 100128135 ABBA01028671;AC091564;AMYH02024273;NG_028988 1736987 D11S2706 pseudo HGNC:38876 INFERRED 8553150 GXYLT1P3 glucoside xylosyltransferase 1 pseudogene 3 9 9 p12 42493617 42494806 + 40351977 40353658 + 15252450;16344560 100132541 AL591471;DA103059;DQ786188;NR_121572;XR_428458;XR_432385 Hs.646257;Hs.648146 pseudo HGNC:50422 VALIDATED 1348748 GYG1 glycogenin 1 This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] 3 3 3 q24-q25.1 147119449 147155731 + 148709195 148745456 + 148991408 149027669 + 1302293;1580863;2303736;2304070;6480464;7240710;8554872;8699517 10710493;8224611;8602861 10395894;10721716;10924520;11916970;12051921;12477932;1281472;14984203;15489334;15860684;15870102;16189514;17055998;17311895;19946888;20357282;20562859;21139048;21890473;21988832;22198226;24239874;24816145;2493642;8325847;8661012;9346895;9857012 2992 C9J7C7;C9J8R8;C9JQ42;G5E9W8;P46976 AA191440;ABBA01058948;ABBA01058949;AC021059;AF065481;AF087942;AK299962;AK312283;AMYH02007879;AMYH02007880;AMYH02007881;BC000033;BC031096;BG702275;CH471052;CR536547;NG_027677;NM_001184720;NM_001184721;NM_004130;U31525;U44131;X79537 AAB00114;AAB09752;AAD31084;AAD52093;AAH00033;AAH31096;BAG35212;BAG61788;CAA56073;CAG38784;EAW78894;EAW78895;EAW78896;EAW78897;EAW78898;EAW78899;EAW78900;EAW78901;NP_001171649;NP_001171650;NP_004121;P46976 Hs.477892 1721605;1734452;2139432;2151007;2219110;5106265 D1S1761E;D3S4076;G59812;GYG__6680;STS-X79537;WI-19179 GN-1;GN1;GSD15;GYG OTTHUMP00000215731;OTTHUMP00000215732;OTTHUMP00000215734;OTTHUMP00000215737;glycogenin glucosyltransferase;glycogenin-1 APPROVED protein-coding ENSG00000163754 HGNC:4699 06805 603942;613507 REVIEWED 8553116 GXYLT1P5 glucoside xylosyltransferase 1 pseudogene 5 9 9 q13 66342524 66343711 - 42974854 42976041 + 100131760 ABBA01033788;AL591441;AMYH02020733;NG_021619 pseudo HGNC:50424 INFERRED 1314963 GULP1 GULP, engulfment adaptor PTB domain containing 1 The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011] 2 2 2 q32.3-q33 182752718 183055486 + 189156396 189460653 + 188291669 188595926 + 1580863;6480464 10574763;10574771;11729193;12477932;14702039;15203218;15749123;16344560;18029348;18230608;19122200;19721717;20237496;20599701;20674096;21139048;21486224;21988832;22398720;22451657;23167255 51454 B8ZZL1;H0Y6R1;H7BZV7;Q9UBP9 AB209890;ABBA01062363;ABBA01062364;ABBA01062365;ABBA01062366;ABBA01062367;ABBA01062368;AC092598;AC104131;AC108493;AC125490;AC133606;AF075014;AF191771;AF200715;AK023668;AK055718;AK298626;AK314498;AL080142;AMYH02005419;AW149992;AX008861;BC001103;BC068525;CD627760;CH471058;DA392794;KF456750;NM_001252668;NM_001252669;NM_016315;NR_045562;NR_045563;XM_006712580;XM_006712581;XM_006712582;XM_006712583;XM_006712584;XM_006712585;XM_006712586;XM_006712587;XM_006712588;XM_006712589;XM_006712590;XM_006712591 AAF08006;AAF18975;AAH01103;AAX93242;AAY24122;BAD93127;BAG37098;BAG51214;BAG60802;CAC07438;EAX10913;EAX10914;EAX10915;EAX10916;EAX10917;NP_001239597;NP_001239598;NP_057399;Q9UBP9;XP_006712643;XP_006712644;XP_006712645;XP_006712646;XP_006712647;XP_006712648;XP_006712649;XP_006712650;XP_006712651;XP_006712652;XP_006712653;XP_006712654 Hs.470887;Hs.712910 1645308;1661484;1725501;1725599;1750849;1788414;1795960;1848211;2156311 A004R04;G62089;GULP1_1701;RH119147;RH69988;SHGC-104632;SHGC-35724;WI-12408;fb76e10.y1 CED-6;CED6;FLJ31156;GULP OTTHUMP00000163484;OTTHUMP00000205908;OTTHUMP00000205909;OTTHUMP00000205910;OTTHUMP00000205911;OTTHUMP00000205915;PTB domain adapter protein CED-6;PTB domain adaptor protein CED-6;PTB domain-containing engulfment adapter protein 1;cell death protein 6 homolog;engulfment adapter protein APPROVED protein-coding ENSG00000144366 HGNC:18649 12181 608165 REVIEWED 5129397 GYG1P2 glycogenin 1 pseudogene 2 13 13 13 q31.1 64294794 64296501 + 83397174 83398912 + 82823039 82824777 + 647317 ABBA01021733;AL356294;AMYH02028379;NG_021231 pseudo HGNC:39710 INFERRED 6481405 GYG2-AS1 GYG2 antisense RNA 1 p22.33 100873938 AC138085;HG512413 APPROVED ncrna HGNC:40270 5129381 GYG2P2 glycogenin 2 pseudogene 2 1 1 1 178195212 178196079 + 205060291 205061158 + 205091163 205092030 + 100418892 ABBA01027432;AL583832;AMYH02002543;NG_027191 pseudo HGNC:39713 INFERRED 5129402 GYG1P3 glycogenin 1 pseudogene 3 1 1 1 p32.3 53975516 53977311 + 55687952 55689749 + 55222279 55224076 + 645506 ABBA01074698;AC091609;AMYH02001066;NG_021229 1734452;5022745 D1S1761E;GYG1 pseudo HGNC:39711 INFERRED 5129386 GYG1P1 glycogenin 1 pseudogene 1 8 8 8 q21.11 70814530 70824977 - 74816834 74827341 - 73904599 73915106 - 100132965 ABBA01041974;AC022868;AMYH02018230;NG_021230 pseudo HGNC:39712 INFERRED 1605885 GYLTL1B glycosyltransferase-like 1B ENCODES a protein that exhibits transferase activity, transferring glycosyl groups (inferred); INVOLVED IN muscle cell cellular homeostasis (ortholog); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH progesterone; 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 11 11 11 p11.2 46090798 46098250 + 45943172 45950647 + 45921645 45929096 + 6480464 12477932;14702039;15489334;15498874;15661757;15752776;15958417;16341674;19724895;19851296;20198315;23223448;24144296 120071 B3KP69;E9PIZ2;H0YDB8;H0YDU6;Q8N3Y3 ABBA01060756;ABBA01060757;AC068385;AF258588;AK055829;AK092526;AK096021;AMYH02024693;AMYH02024694;BC037291;BM840813;CH471064;DB204404;NM_001300721;NM_001300722;NM_152312;XM_005252785;XM_005252787;XM_006718139;XM_006718140;XM_006718141 AAG23791;AAH37291;ABM82471;ABM85277;ABM87867;BAC03909;BAC04675;BAG51581;EAW68020;EAW68021;NP_001287650;NP_001287651;NP_689525;Q8N3Y3;XP_005252842;XP_005252844;XP_006718202;XP_006718203;XP_006718204 Hs.86543 1765505 SHGC-148984 FLJ35207;LARGE2;PP5656 OTTHUMP00000234836;OTTHUMP00000234837;OTTHUMP00000234838;glycosyltransferase-like protein LARGE2;like-glycosyltransferase 2;ortholog of mouse glycosyltransferase-like 1B protein-coding ENSG00000165905 HGNC:16522 13618 609709 VALIDATED 1625085 GXYLT2 glucoside xylosyltransferase 2 GXYLT2 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010] 3 3 3 p13 72871536 72958684 + 72937385 73024525 + 72888234 72975374 + 6480464;6907045 12477932;19940119 727936 A0PJZ3;C9J3Q6;C9JND4 ABBA01030956;ABBA01030957;ABBA01030958;AC098481;AC114876;AMYH02007063;AMYH02007064;BC127733;KF457644;NM_001080393 A0PJZ3;AAI27734;NP_001073862 Hs.710275 1337903;1708670;1758873;1766757 D3S1284;SHGC-151091;SHGC-152064;SHGC-81476 GLT8D4 OTTHUMP00000213540;glycosyltransferase 8 domain containing 4;glycosyltransferase 8 domain-containing protein 4 APPROVED protein-coding HGNC:33383 613322 PROVISIONAL 1346797 GYG2P1 glycogenin 2 pseudogene 1 X Y Y q11.21 1504150 1519624 - 14517915 14533389 - 12406116 12421590 - 10542153;12815422;16344560;18487259 352887 AB371555;ABBA01065654;AC002992;AC245170;BF026648;BX280068;DA362627;NR_033667 Hs.546221 2188841 G65852 GYG2P APPROVED pseudo ENSG00000206159 HGNC:4701 VALIDATED 1344312 GYG2 glycogenin 2 This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010] X X X p22.3 7027258 7081096 + 2746863 2800861 + 2828744 2882820 + 1580863;6480464 10721716;11840567;12051921;12477932;1281472;14702039;15489334;16189514;18029348;20098747;21832049;21988832;23000965;24239874;9346895;9691087;9857012 8908 B3KUV6;E5RIC9;J3QSZ3;O15488;Q1ZYL7 ABBA01038615;ABBA01038616;ABBA01038617;ABBA01038618;ABBA01038619;ABBA01038620;AC005295;AC138085;AF179624;AK098046;AK292496;AMYH02038712;BC023152;CB410312;CH471074;DQ424901;NG_021257;NM_001079855;NM_001184702;NM_001184703;NM_001184704;NM_003918;U94357;U94358;U94360;U94361;U94362;U94363;XM_005274617;XM_005274618;XM_005274619;XM_005274621;XM_005274622;XM_006724521;XM_006724522 AAB84373;AAB84374;AAB84375;AAB84376;AAB84377;AAB84378;AAF61855;AAH23152;ABD83666;ABM82032;ABM85213;BAF85185;BAG53568;EAW98705;EAW98706;EAW98707;EAW98708;EAW98709;EAW98710;EAW98711;EAW98712;NP_001073324;NP_001171631;NP_001171632;NP_001171633;NP_003909;O15488;XP_005274674;XP_005274675;XP_005274676;XP_005274678;XP_005274679;XP_006724584;XP_006724585 Hs.567381;Hs.701629 1651860;1654505;1675229;1711806;1722023;1855370;2107201;2130220 G49430;G59898;GYG2__7558;RH65915;RH70016;SHGC-37451;STS-Z40932;WIAF-2180 GN-2;GN2 OTTHUMP00000022853;OTTHUMP00000022855;OTTHUMP00000225770;glycogenin glucosyltransferase;glycogenin-2 APPROVED protein-coding ENSG00000056998 HGNC:4700 02185 300198 REVIEWED 733991 GYS2 glycogen synthase 2 (liver) The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009] 12 12 12 p12.2 26844519 26913106 - 21684461 21783722 - 21531527 21630788 - 1582633;704404;1600764;1580863;1300048;2304106;1642743;6480464;6907045;7240710;8554872;8699517 12297270;15138155;6449198;9691087 11752456;12477932;12732844;15489334;16344560;1731614;18996102;20379614;20602615;20691427;20800603;2169698;21890473;21906983;21963094;21988832;22951595;23000965;23426827;8188280;8203908 2998 P54840 ABBA01067971;AC006559;AC010197;AC022072;AJ003087;AJ003088;AJ003089;AJ003090;AJ003091;AJ003092;AJ003093;AJ003094;AJ003095;AJ003096;AJ003097;AJ003098;AJ003099;AJ003100;AJ003101;AJ003102;AK308373;AMYH02026168;AV653197;BC126310;BC126312;CH471094;D29685;DB185936;NG_016167;NM_021957;S70004;XM_005253352;XM_005253353;XM_005253354;XM_006719062;XM_006719063 AAB30886;AAI26311;AAI26313;ADR83307;BAA06154;CAA05859;EAW96446;EAW96447;NP_068776;P54840;XP_005253409;XP_005253410;XP_005253411;XP_006719125;XP_006719126 Hs.82614 1331577;1676292;1677036;1704642;1725875;1725983;1726115;1732329;1752009;2109375;2122143 D12S1066;D12S155;D12S1945;G62378;G62379;G62406;GYS2_7800;RH76620;RH79957;SHGC-105992;SHGC-77946 OTTHUMP00000240158;glycogen [starch] synthase, liver;glycogen synthase 2 APPROVED protein-coding ENSG00000111713 HGNC:4707 00722 138571;240600 REVIEWED 1353887 GYPE glycophorin E (MNS blood group) The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q31.1 142122012 142156166 - 144792019 144826716 - 143870866 143905563 - 1580863;6480464 10862083;12477932;12949139;1421409;15489334;1591491;2249783;2295603;2390989;7521873;7622054;7798177 2996 E9PCN6;P15421 ABBA01070007;AC093890;AC109812;AF085899;AF239849;AF239850;AMYH02010238;AY297560;AY297561;AY297562;AY297563;AY297564;AY297565;AY297566;AY297567;AY297568;AY297569;BC017864;BC064396;BG528203;BX091225;CH471056;L31858;L31863;M29604;M29605;M29606;M29607;M29608;M29609;M29610;M57232;M57233;M57234;N38976;NG_009173;NM_002102;NM_198682;X53004;X53005;X53006;X53008;X53009;X53010 AAA35923;AAA52575;AAA52766;AAA63179;AAC41697;AAF97047;AAH17864;AAR06008;AAR06009;AAR06010;AAR06011;AAR06012;AAR06013;AAR06014;AAR06015;AAR06016;AAR06017;ABW03465;CAA37189;CAA37191;EAX05065;EAX05066;EAX05067;NP_002093;NP_941391;P15421 Hs.654368;Hs.728753 1654412;1658486;1667715;1847187;2141014;2163013;2173063;5022325;5123287 D4S3137;G22676;RH18355;RH45347;SHGC-58133;SHGC-59536;SHGC-59545;SHGC-67829;SHGC-67855 GPE;MNS;MiIX OTTHUMP00000220150;OTTHUMP00000220152;glycophorin-E APPROVED protein-coding ENSG00000197465 HGNC:4705 00723 138590 REVIEWED 1318777 GZF1 GDNF-inducible zinc finger protein 1 ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription; RNA polymerase II distal enhancer sequence-specific DNA binding; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-templated; FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; formaldehyde; hydrogen peroxide 20 20 20 p11.21 23418394 23427056 + 23342769 23353683 + 23362132 23373046 + 1580863;6480464 11780052;12477932;14522971;14702039;16049025;17674968;21292309;24250222;8889548 64412 Q5JXG1;Q9H116 AA062926;AB100265;ABBA01016176;ABBA01016177;AK025447;AK056159;AK056477;AK289814;AK293942;AK295362;AK314599;AL096677;AMYH02036833;BC016049;BC125188;BC154409;BE348947;BM975844;CH471133;NM_022482;XM_005260797;XM_005260800;XM_005260801;XM_005260802;XM_005260803;XM_006723606;XM_006723607;XM_006723608 BAB15134;BAB71107;BAC98464;BAF82503;BAG37170;BAG51726;BAG57319;BAG58326;EAX10159;EAX10160;EAX10161;NP_071927;Q9H116;XP_005260854;XP_005260857;XP_005260858;XP_005260859;XP_005260860;XP_006723669;XP_006723670;XP_006723671 Hs.709462 1649683;1676318;1678497;1756779;1770800 G29232;RH91829;RH98410;SHGC-143912;STS-R68835 ZBTB23;ZNF336 OTTHUMP00000030431;zinc finger and BTB domain-containing protein 23;zinc finger protein 336 protein-coding ENSG00000125812 HGNC:15808 15778 613842 VALIDATED 1321115 GYPC glycophorin C (Gerbich blood group) Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 2 2 2 q14-q21 120729367 120768843 + 127413426 127454251 + 126655852 126696675 + 1580863;6480464;6907045;7240710;8554872 11423550;12058555;12469115;12477932;12576308;1413665;14695625;15489334;15815621;16669616;1719701;19149918;19679754;1991173;19946888;20306291;20932076;21061946;22449649;2349119;2416746;24379273;24652986;2584223;2776757;2818576;2917976;3544149;3571235;3595602;3606576;3793105;4074499;6712635;7106126;7683929;8219208;9153243;9305870 2995 P04921 AA913940;ABBA01040223;AC013474;AK312032;AMYH02004726;AY838876;BC016653;BC104246;BC104247;BC106051;CB992018;CH471103;M11802;M28335;M29662;M36284;NG_007479;NM_001256584;NM_002101;NM_016815;X12496;X13890;X14242;X51973;XM_005263653;XM_006712460 AAA52574;AAA52625;AAA52626;AAA60023;AAI04247;AAI04248;AAI06052;AAV80423;AAY14660;BAG34969;CAA31016;CAA32093;CAA32458;CAA36235;EAW95275;EAW95276;NP_001243513;NP_002092;NP_058131;P04921;XP_005263710;XP_006712523 Hs.59138 1681450;1741515;2119264;2120126;2130821;2131900;2166093;2219112 Bdy37c01;D2S2865;G13290;GDB:181270;GYPC_3993;RH17947;RH93375;SHGC-52544 CD236;CD236R;GE;GPC;GPD;GYPD;MGC117309;MGC126191;MGC126192;PAS-2;PAS-2' OTTHUMP00000162176;OTTHUMP00000203779;glycoconnectin;glycophorin-C;glycophorin-D;glycoprotein beta;sialoglycoprotein D APPROVED protein-coding ENSG00000136732 HGNC:4704 00193 110750;611162 REVIEWED 1320086 GYS1 glycogen synthase 1 (muscle) The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 19 19 19 q13.3 46338732 46363941 - 49471382 49496610 - 48968125 48993353 - 1580863;1642743;2304106;2313176;2313172;6480464;6484113;6907045;7240710;8554872;8699517 12297270;17356695;6449198;9267990 10924520;11092303;11147787;11251056;11427888;12411100;12477932;12732844;12870167;15194499;15282316;15342556;15489334;15855312;15955076;16115820;16189514;16275910;16282323;17055998;17137217;17353931;17928598;18544618;18996102;19339242;19420105;19578796;19615732;19773279;19837931;19913121;19946888;20017397;20300197;20384434;20562859;20602615;20628086;21139048;21145461;2117608;21832049;21890473;21906983;21963094;21985244;21987572;22403297;22505724;22952844;23000965;23134486;23321478;24049095;24816145;2493642;6772446;7631777;7657035;8062946;8125298;8280084;8449521;9010351;9346895;9628874 2997 B7Z806;M0QYU1;P13807 ABBA01032952;ABBA01032953;ABBA01032954;AC008687;AC026803;AC098792;AC245081;AK223579;AK291672;AK294349;AK300369;AK302738;AK303712;BC002617;BC003182;BC007688;BP313940;CH471177;J04501;NG_012923;NM_001161587;NM_002103;NR_027763;U32573;Z33622 AAA88046;AAB60385;AAH02617;AAH03182;AAH07688;BAD97299;BAF84361;BAH11741;BAH13272;BAH13792;BAH14026;CAA83916;EAW52424;EAW52425;NP_001155059;NP_002094;P13807 Hs.386225 2107203;2134864;5094916 D19S987;GYS1;GYS1_7799 GSY;GYS OTTHUMP00000198371;OTTHUMP00000198373;glycogen [starch] synthase, muscle 2289232 BW89_H APPROVED protein-coding ENSG00000104812 HGNC:4706 00721 138570;611556 REVIEWED 1352730 GYPB glycophorin B (MNS blood group) Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008] 4 4 4 q31.21 142246703 142269942 - 144917257 144940498 - 143996104 144019345 - 1580863;6480464;6907045;7240710;8554872 10827259;11239234;12477932;12869123;12949139;14638759;14641872;15489334;1611092;17207965;17372674;1737789;17561857;18067501;18284304;18510579;19279206;19564639;1971625;19856717;2015404;2016325;20431033;21283638;21883272;2295603;23756267;2734312;3196288;3477806;3571235;3595615;7622054;7798177;7806496;8144668;8193374;8444872;8535438;8563755;9269716 2994 D6RA87;D6RAD9;D6RBP2;E7ERJ5;P06028 AC093890;AF090739;AJ309709;AJ309710;AJ309711;AJ309712;AMYH02010240;AY297551;AY297552;AY297553;AY297554;AY297555;AY297556;AY297557;AY297558;AY297559;AY509882;AY509883;AY950609;AY950610;AY950611;AY950612;BC069310;BC121077;BC121078;CH471056;EU338223;EU338224;EU338225;EU338226;EU338227;EU338228;EU338229;EU338230;EU338235;EU338236;EU338237;EU338238;J02982;L31861;L31862;M24137;M33505;M60708;M60709;M60710;M81079;NG_007483;NM_002100;U05254;U05255;X08055;XM_005262968;XM_005262969;XM_005262970 AAA19251;AAA35928;AAA35929;AAA52573;AAA53152;AAA58626;AAC36159;AAC36314;AAC41695;AAC41696;AAC50503;AAC63048;AAH69310;AAI21078;AAI21079;AAR05999;AAR06000;AAR06001;AAR06002;AAR06003;AAR06004;AAR06005;AAR06006;AAR06007;AAR97607;AAR97608;AAX53130;AAX53131;AAX53132;AAX53133;ACA96781;ACA96782;ACA96783;ACA96784;ACA96785;ACA96786;ACA96787;ACA96788;ACA96793;ACA96794;ACA96795;ACA96796;ADQ32898;CAB42645;CAC83873;CAC83874;CAC83875;CAC83876;EAX05058;NP_002091;P06028;XP_005263025;XP_005263026;XP_005263027 Hs.654368 1654412;1658486;1667715;1669079;1776192;2131496;2163013;2173063;2217404;5022325 D4S3137;G17370;G22676;GYPA_3992;RH18355;SHGC-50664;SHGC-52748;SHGC-58133;SHGC-59536;SHGC-59545 CD235b;GPB;GPB.NY;GYPHe.NY;GpMiIII;HGpMiIII;HGpMiVI;HGpMiX;MNS;PAS-3;SS OTTHUMP00000220160;OTTHUMP00000220163;OTTHUMP00000220165;OTTHUMP00000220168;SS-active sialoglycoprotein;Ss blood group;glycophorin HeP2;glycophorin MiIII;glycophorin MiVI;glycophorin MiX;glycophorin b (includes ss blood group);glycophorin-B;sialoglycoprotein delta APPROVED protein-coding ENSG00000250361 HGNC:4703 00201 111740;611162 REVIEWED 1342753 GYPA glycophorin A (MNS blood group) Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008] 4 4 4 q31.21 142359859 142391286 - 145030456 145061904 - 144109303 144140751 - 1580863;6480464;6907045;7240710;8554872 1059087;10644812;10729812;11861881;11936216;12165956;12189808;12477932;12492375;12813056;12949139;1421409;14550622;14604989;14681217;15067009;15489334;1560003;15754970;15761857;15783300;15819453;16003235;1611092;16179731;16205834;16344560;16424825;17372674;1737789;17452518;17456399;18510579;19071041;19300500;1932122;19438409;19907019;20010834;20010835;20074546;2015404;2016325;20173748;20233359;20434428;20560530;20603102;21072853;21119205;21455273;2216775;23722820;2386609;24043627;24322204;2734312;2753361;2792104;3196288;3198123;3345758;3456608;3477806;3809885;7040988;7622054;7718894;7762218;7798177;8245024;8286855;8444872;8535438;8785502;8953647;9082985;9269716;9490702 2993 D6RJD8;E7EQF3;E9PD10;E9PH25;P02724;Q13030 ABBA01070009;AC107223;AF325923;AJ309704;AJ309705;AJ309706;AJ309707;AJ309828;AJ309829;AJ309830;AJ309831;AJ309832;AJ309833;AJ309834;AJ309835;AJ309836;AJ309837;AJ309838;AJ309839;AJ309840;AJ309841;AJ309842;AJ309843;AJ309844;AJ309845;AJ311318;AJ311319;AJ311320;AJ311321;AJ311322;AJ311323;AJ311324;AJ311325;AJ311326;AJ311327;AJ311328;AJ311329;AJ311330;AJ311331;AJ311332;AK290561;AMYH02010240;AY297541;AY297542;AY297543;AY297544;AY297545;AY297546;AY297547;AY297548;AY297549;AY297550;AY950613;AY950614;AY950615;BC005319;BC013328;BX649043;CH471056;DA537533;EU338231;EU338232;EU338233;EU338234;GU347002;GU347003;GU347004;GU347005;GU347006;GU347007;GU347008;HG964360;L07251;L07253;L31860;M12857;M24128;M36281;M60707;M81826;M87884;NG_007470;NM_002099;S77077;S77082;U00177;U00178;U00179;X08054;X15823;X51798;X57023 AAA18258;AAA52624;AAA52768;AAA58616;AAA88044;AAA88051;AAB34407;AAB34408;AAC27543;AAC34718;AAC46257;AAC46258;AAC50057;AAC50058;AAG59990;AAH05319;AAH13328;AAR05989;AAR05990;AAR05991;AAR05992;AAR05993;AAR05994;AAR05995;AAR05996;AAR05997;AAR05998;AAX53134;AAX53135;AAX53136;ABM83972;ACA96789;ACA96790;ACA96791;ACA96792;ADU25340;ADU25341;ADU25342;ADU25343;ADU25344;ADU25345;ADU25346;BAF83250;CAA30843;CAA33821;CAA36095;CAA40340;CAC82326;CAC82327;CAC82328;CAC82329;CAC82330;CAC82331;CAC82332;CAC83868;CAC83869;CAC83870;CAC83871;CAC83934;CAC83935;CAC83936;CAC83937;CAC83938;CAC83939;CAC83940;CAC83941;CAC83942;CAC83943;CAC83944;CAC85268;CAC85269;CAC85270;CAC85271;CAC85272;CAC85273;CAC85274;CAC85275;CAC85276;CAC85277;CAC85278;CAC85279;CAC85280;CAC85281;CAC85282;CDO39028;EAX05061;EAX05062;NP_002090;P02724 Hs.434973 1670501;1684062;1708266;1847187;2141014;2217404;5117058 GDB:409935;GYPA_3992;RH99179;SHGC-12331;SHGC-67829;SHGC-67855;SHGC-79398 CD235a;GPA;GPSAT;GpMiIII;HGpMiIII;HGpMiV;HGpMiX;HGpSta(C);MN;MNS;PAS-2 GPErik;HGpMiXI;MN sialoglycoprotein;Mi.V glycoprotein (24 AA);OTTHUMP00000220153;OTTHUMP00000220154;OTTHUMP00000220156;OTTHUMP00000220157;OTTHUMP00000220158;OTTHUMP00000220159;erythroid-lineage-specific membrane sialoglycoprotein;glycophorin A (MN blood group);glycophorin A, GPA;glycophorin Erik;glycophorin MiI;glycophorin MiIII;glycophorin MiV;glycophorin MiX;glycophorin SAT;glycophorin Sta type C;glycophorin a (includes mn blood group);glycophorin-A;recombinant glycophorin A-B Miltenberger-DR;sialoglycoprotein alpha APPROVED protein-coding ENSG00000170180 HGNC:4702 07508 111300;611162 REVIEWED 68588 GZMK granzyme K (granzyme 3; tryptase II) This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008] 5 5 5 q11.2 51273297 51283152 + 54320107 54329960 + 55024279 55034132 + 1580863;6480464 12384499;12387726;12477932;1460416;15489334;17008916;17308307;17438453;19059912;19201868;20377743;20876349;21666061;21988832;24711407;3262682;7758581;8039831;8656064;8929545 3003 P49863 ABBA01015735;AC034238;AK312074;AMYH02011308;BC035802;CH471123;NM_002104;U26174;U35237 AAA74578;AAA79063;AAH35802;ABM85019;ABW03654;BAG35010;EAW54899;NP_002095;P49863 Hs.277937 NK-Tryp-2;TRYP2 NK-tryptase-2;OTTHUMP00000122500;fragmentin-3;granzyme 3;granzyme K;granzyme K (serine protease, granzyme 3, tryptase II);granzyme K (serine protease, granzyme 3; tryptase II);granzyme-3;tryptase II APPROVED protein-coding HGNC:4711 02872 600784 REVIEWED 1344003 GZMM granzyme M (lymphocyte met-ase 1) Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and the protein encoded by this gene, granzyme M. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 19 19 19 p13.3 268078 273971 - 544034 549920 + 544034 549920 + 1580863;6480464 12477932;12506019;15028722;15489334;15494398;16818775;18523284;19103589;19542453;19896187;19946888;20107908;20406824;21059895;21857942;21909423;21979465;23099853;24316590;7713495;8119738;8245461;8929545 3004 P51124;U3KQV5 ABBA01002568;ABBA01002569;AC011556;AMYH02035113;AMYH02035114;BC025701;CD366947;CH471242;CR991101;L23134;L36922;L36936;NM_001258351;NM_005317 AAA57257;AAA57262;AAA59582;AAH25701;ADR82740;EAW61189;NP_001245280;NP_005308;P51124 Hs.465511 1656281 RH71363 LMET1;MET1 HU-Met-1;Met-1 serine protease;granzyme M;lymphocyte met-ase 1;met-ase;natural killer cell granular protease APPROVED protein-coding ENSG00000197540 HGNC:4712 02633 600311 REVIEWED 1604187 H19 H19, imprinted maternally expressed transcript (non-protein coding) This gene expresses a non-coding RNA, and functions as a tumor suppressor. The gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. Expression of this gene and IGF2 are imprinted so that this gene is only expressed from the maternally-inherited chromosome, and IGF2 is only expressed from the paternally-inherited chromosome. A region of paternal-specific methylation upstream of this gene is required for the imprinting of these genes. Mutations in this gene are associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. [provided by RefSeq, Mar 2009] 11 11 11 p15.5 2055536 2058195 - 2016406 2019065 - 1995176 1997835 - 2306171;2306178;2306181;2306185;2306187;2306176;1342455;2306177;2306182;2306169;1642758;2306175;2306179;2306168;2306183;2306180;2306184;2306170;6480464;7240710;8699517;8554872 10521301;10690526;11436121;11726548;11997082;15170812;15228427;15352122;15378645;15618002;16434968;17393425;18262338;18708391;18719115;18950807;9811352;9886562 10810089;11813134;11889182;11971967;12419837;12439823;12477932;12569573;12605037;12682647;12937131;14702039;15158633;15314640;15645136;15885138;16603642;16608903;16708166;1688465;17294726;17786216;18006818;18159214;18245780;18358696;18573128;18604514;18627058;18632606;18709478;19017756;19066168;19167051;19342096;19499149;19513555;1953776;19570415;19711451;19843670;19876907;19950580;19956766;19956846;20007505;20042264;20104244;20145138;20301471;20301499;20301534;20301568;20418667;20483645;20554749;20587610;20639793;20661447;20861572;21129773;21282187;21326306;21420679;21458801;21573965;21654730;21863054;22395465;22527881;22646060;22679513;22776265;22832245;22879348;22959455;23040914;23042795;23118352;23153226;23222811;23227253;23343754;23354591;23399020;23620526;23725790;23811339;23898077;23936387;23965803;23975186;24015185;24055342;24349121;24388988;24685695;24703882;24725430;24934635;24939300;24972507;2595451;8385745;8997520;9716667 283120 ABBA01012169;AC051649;AC123789;AF087017;AF091107;AF125183;AK092486;AK123560;AL546946;AL548405;AMYH02024185;BC006831;BC007513;BC009853;BC010185;BC013067;BC015952;BC023213;BC040073;BC040852;BC053636;BC053637;BC063564;BC063626;BC069247;BC098439;BC106078;BC110657;BC115700;M32053;NG_016165;NR_002196 Hs.533566 ASM;ASM1;BWS;D11S813E;LINC00008;MGC4485;NCRNA00008;PRO2605;WT2 APPROVED ncrna ENSG00000130600 HGNC:4713 103280;130650;180860;194071 REVIEWED 1604474 H1FNT H1 histone family, member N, testis-specific ENCODES a protein that exhibits ATP binding (inferred); DNA binding (inferred); INVOLVED IN sperm chromatin condensation (ortholog); spermatid nucleus elongation (ortholog); FOUND IN nucleus; nuclear chromatin (ortholog); INTERACTS WITH dibutyl phthalate (ortholog) 12 12 12 q13.11 47520294 47521593 + 48722763 48724062 + 48328980 48330279 + 6480464 12477932;15710904;16055721;16533358;24614311 341567 Q75WM6 AB121028;ABBA01031479;AC024257;AMYH02026420;AY302593;AY496854;BC118635;BC119787;NM_181788 AAI18636;AAI19788;AAP60022;AAS49492;BAD13382;NP_861453;Q75WM6 Hs.155833 5493193 UniSTS:484656 H1T2;HANP1 OTTHUMP00000242443;haploid germ cell-specific nuclear protein 1;histone H1t2;testis-specific H1 histone protein-coding ENSG00000187166 HGNC:24893 17084 PROVISIONAL 1348061 GZMH granzyme H (cathepsin G-like 2, protein h-CCPX) The protein encoded by this gene is a member of the granzyme family. Members of this family are highly conserved serine proteases that eliminate transformed cells and virus-infected cells. This protein, which has chymotrypsin-like activity, has a preference for bulky aromatic amino acids at the P1 position and for acidic residues at the P3' and P4' positions. This protein is reported to be constitutively expressed in NK cells and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 14 14 14 q11.2 4940483 4943654 - 25075686 25078926 - 24606480 24609720 - 1580863;6480464 10521426;12477932;12515723;15069086;15489334;17363894;17409270;17765974;17766182;19024195;19039329;19913121;19946888;2007574;2049336;20628086;20800603;2193684;22156339;22156497;2300587;23269243;23352961;2402757;9920846 2999 P20718 ABBA01061345;AL136018;AMYH02028882;AW204493;AY232657;AY232658;BC027974;BQ054303;CD000418;CH471078;J02907;M36118;M57888;M59718;M72150;NM_001270780;NM_001270781;NM_033423 AAA03248;AAA03514;AAA74885;AAA76859;AAH27974;AAP70247;AAP70248;ABM82994;ABM86187;EAW66004;EAW66005;NP_001257709;NP_001257710;NP_219491;P20718 Hs.348264 2158128;5091068 RH71382;STS-R53038 CCP-X;CGL-2;CSP-C;CTLA1;CTSGL2 OTTHUMP00000178753;OTTHUMP00000245745;cathepsin G-like 2;cytotoxic T-lymphocyte proteinase;cytotoxic T-lymphocyte-associated serine esterase 1;cytotoxic serine protease C;cytotoxin serine protease-C;granzyme H APPROVED protein-coding ENSG00000100450 HGNC:4710 00290 116831 REVIEWED 1347696 H1FOO H1 histone family, member O, oocyte-specific Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein encoded is a member of the histone H1 family. This gene contains introns, unlike most histone genes. The protein encoded is a member of the histone H1 family. The related mouse gene is expressed only in oocytes. [provided by RefSeq, Jul 2008] 3 3 3 q22.1 127688886 127697033 + 129262057 129270310 + 129543214 129551467 + 1580863;6480464;8554872 12408966;12477932;12711322;14729478;14729479;15371275;19056867;19147139;24614311 132243 Q8IZA3 ABBA01059226;AC080007;AMYH02007641;AY158091;BC047943;CH471052;NM_153833;XM_005247123 AAH47943;AAN46899;EAW79242;EAW79243;NP_722575;Q8IZA3;XP_005247180 Hs.97358 MGC50807;osH1 OTTHUMP00000215766;histone H1oo;oocyte-specific histone H1;oocyte-specific linker histone H1 APPROVED protein-coding ENSG00000178804 HGNC:18463 13621 REVIEWED 736127 H1F0 H1 histone family, member 0 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H1 family. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 22002906 22005235 + 38201114 38203443 + 37805107 37807436 + 1580863;6480464 10228156;10471283;10529182;10591208;10727426;11463824;12080050;12149419;12190313;12383116;12406094;12466960;12477932;12800980;12949733;12970441;14702039;15147269;15461802;15489334;15911621;16169070;16985050;17081983;17224799;17361108;17361185;18029348;18624398;19829063;19882353;19953087;20098747;20211142;20618440;20628624;21139048;21145461;21832049;21906983;21907836;22178446;22334665;22902626;23000965;24244333;24457600;24614311;24778252;24816145;3084796;4595808;7511470;8034666;8325638;9499053;9582379;9770363 3005 P07305 AA206831;ABBA01055487;ABBA01055488;AK091372;AK312583;AMYH02038341;BC000145;BC029046;BI462123;BX490432;CH471095;CR456502;CR542220;NM_005318;X03473;Z97630 AAH00145;AAH29046;ABM81903;ABM85077;BAG35477;CAA27190;CAG30388;CAG47016;CAK54531;CAK54830;EAW60188;NP_005309;P07305 Hs.745024 1658023;1678303;2110445;2128201;2149861;2185040 G29683;G31469;H1F0__7560;RH17516;RH27824;STS-W90034 H10;H1FV;MGC5241 H1.0, H1(0), H1-0;OTTHUMP00000198160;histone H1';histone H1(0);histone H1.0 APPROVED protein-coding ENSG00000189060 HGNC:4714 00819 142708 REVIEWED 1354284 H1FX H1 histone family, member X Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H1 family. [provided by RefSeq, Jul 2008] 3 3 3 q21.3 127464821 127466328 - 129033614 129035120 - 129314771 129316277 - 1580863;6480464 12477932;12698000;12777385;15302935;15489334;15595731;15635413;15848144;16006241;16196087;17081983;17620599;17632103;17868027;18457437;19108733;19710015;20020773;20211142;20431927;21139048;21145461;21890473;21906983;21907836;22505724;22586326;22863883;22939629;22990118;23000965;23151878;23254330;23349634;23443559;23752268;24457600;24583282;24614311;24816145;8964515 8971 Q92522 ABBA01020935;AC137695;AMYH02007639;BC000426;BC010435;CH471052;D64142;NM_006026 AAH00426;AAH10435;BAA11018;EAW79264;NP_006017;Q92522 Hs.75307 1690157;1690948;1788710 RH135825;RH36559;RH80767 H1X;MGC15959;MGC8350 OTTHUMP00000215376;histone H1x APPROVED protein-coding ENSG00000184897 HGNC:4722 04151 602785 REVIEWED 1346656 H2AFB1 H2A histone family, member B1 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most centromeric copy which is in intron 22 of the F8 gene. [provided by RefSeq, Jul 2008] X X X q28 154271936 154272452 + 154113317 154113833 + 154885042 154885558 + 6907045;6480464 11266453;12477932;15257289;21888893;8528212 474382 P0C5Y9 ABBA01029092;AMYH02040862;BC128034;BX842559;CR542230;NG_011403;NM_001017990 AAI28035;CAG47026;NP_001017990;P0C5Y9 Hs.592246 H2A.Bbd H2A Barr body-deficient;OTTHUMP00000032189;histone H2A-Bbd type 1 APPROVED protein-coding ENSG00000274183 HGNC:22516 18664 REVIEWED 1348122 GZMA granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008] 5 5 5 q11-q12 51351660 51358967 + 54398474 54406080 + 55102646 55110252 + 1580863;5135520;6480464;6484113;8554872 20047264 11060286;11331782;11555662;11909973;12477932;12524539;12555094;12721789;12819769;12819770;15238416;15342556;15489334;15911377;15998831;16440001;17008916;17116752;17138956;17308307;17703412;18317234;18485875;1860869;18776661;18951048;19014932;19059912;19258923;19343046;19506301;19875524;20503287;20536382;21068403;21349256;21709155;22476618;24505135;3047119;3237717;3257574;3262682;3263427;3533635;7751653;7912927;8288245;9256474;9531325 3001 P12544 ABBA01015735;ABBA01015736;AC091977;AMYH02011309;BC015739;BP330335;CH471123;CR456968;M18737;NG_027996;NM_006144;U40006 AAA52647;AAD00009;AAH15739;ABM83997;ABM87325;CAG33249;EAW54900;NP_006135;P12544 Hs.90708 1708722;1715203;2072980 REN107686;RH119852;SHGC-81572 CTLA3;HF;HFSP CTL tryptase;Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease);Hanukah factor serine protease;OTTHUMP00000122502;cytotoxic T-lymphocyte proteinase 1;cytotoxic T-lymphocyte-associated serine esterase-3;fragmentin-1;granzyme A;granzyme-1;h factor;hanukkah factor APPROVED protein-coding ENSG00000145649 HGNC:4708 00771 140050 REVIEWED 1353495 GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein encoded by this gene is crucial for the rapid induction of target cell apoptosis by CTL in cell-mediated immune response. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 4964951 4968224 - 25100160 25103490 - 24630954 24634226 - 1580863;5135518;5135516;5135517;6480464;6484113;6907045 19737140;20018616;20540777 10228010;1067155;11050075;11081635;11085743;11114298;11160179;11209755;11266473;11325591;11331782;11406587;11665980;11802788;11909973;11911826;12009596;12135665;12200377;12218164;12384430;12388539;12477932;12483306;12524539;12645627;12648450;12648453;12721789;12874291;12913938;12919092;14499262;14512315;14635036;14696402;14697980;14739229;14752093;14967307;14996347;15014070;15069086;15238416;15302935;15340161;15489334;15494398;15528317;15569669;15641052;15650747;15673968;15699075;15788411;15818305;15843372;15880044;15911377;15998831;16107729;16166746;16336214;16415351;16524880;16547231;16547254;16611405;16794249;16798735;16908262;16952444;17008916;17015688;17055354;17077322;17116752;17198275;17202328;17224449;17258890;17283187;17437484;17485116;17493234;17568588;17620340;17703412;17785818;17825804;17869012;17976318;17996944;18024321;18029348;18275349;18311812;18317234;18523274;18568772;18580471;18675462;18772390;18785318;18814951;18836177;19079360;19141320;19141860;19145036;19157637;19175398;19258923;19343046;19446661;19458908;19543056;19592644;19759420;19796544;19801510;1985927;19946888;19956856;20027633;20035050;20038786;20087581;20194725;20371822;20388708;20394077;20410501;20449762;2049336;20497195;20503287;20536562;20618609;20633650;20800603;20825413;20959405;21042704;21156847;21203542;21301799;21326808;21349256;21458778;21548883;21709155;21884199;21886827;21919028;2193684;21948366;21960590;21964027;22050094;22084442;22089193;22142046;22172867;22194691;22387007;22430249;22438997;22476618;22479366;22547705;22759804;2300587;23172556;23228447;2323780;2332171;23321919;23321921;23326234;23333304;23377437;23382885;23407551;23440692;23528102;23555267;23598339;23607435;2365998;23820889;23892923;23898208;23980805;2402757;24101526;24113190;24114594;24307760;24355225;24835396;24999042;2788607;2953813;3258865;3261871;3262682;3263427;8156655;8631895;8760815;8770355;8900201;8910377;9233763;9337844;9464839;9586635;9642276;9651578;9694885;9727491;9852092 3002 E7EUV0;E9PID1;E9PLX4;E9PRD7;J3KPK2;J3KQ52;P10144;Q67BC3 ABBA01061346;AL136018;AMYH02028882;AY232654;AY232655;AY232656;AY372494;BC030195;BX283601;CB528665;CH471078;J03072;J03189;J04071;M17016;M28879;M38193;NG_028340;NM_004131 AAA36603;AAA36627;AAA52118;AAA67124;AAA75490;AAB59528;AAH30195;AAP70244;AAP70245;AAP70246;AAR23323;ABW03325;EAW66002;EAW66003;NP_004122;P10144 Hs.1051 1794864;2127351 D14S1256;PMC60854P1 C11;CCPI;CGL-1;CGL1;CSP-B;CSPB;CTLA-1;CTLA1;CTSGL1;HLP;SECT OTTHUMP00000028189;OTTHUMP00000178755;OTTHUMP00000228682;T-cell serine protease 1-3E;cathepsin G-like 1;cytotoxic T-lymphocyte proteinase 2;cytotoxic serine protease B;fragmentin 2;fragmentin-2;granzyme B;granzyme-2;human lymphocyte protein;lymphocyte protease 2315792 GLUCO171_H APPROVED protein-coding ENSG00000100453 HGNC:4709 00476 123910 REVIEWED 2303848 H1FX-AS1 H1FX antisense RNA 1 3 3 3 q21.3 127466322 127474620 + 129035114 129043412 + 129316271 129324569 + 12477932;14702039;15489334;16344560;8889548 339942 Q4G0G2 ABBA01020935;AC137695;AL040547;AL353963;AMYH02007639;BC093941;BC101739;BM709882;BU732259;CH471052;DA883170;HG496048;NR_026991 EAW79263;Q4G0G2 Hs.450096 1690157;1690948;1788710;5015619 D11S3114;RH135825;RH36559;RH80767 C3orf47;FLJ34151;MGC126788;RP13-685P2.5 APPROVED ncrna HGNC:27953 18785 VALIDATED 1343634 H2AFJ H2A histone family, member J Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is located on chromosome 12 and encodes a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. [provided by RefSeq, Jul 2008] 12 12 12 p12.3 20072245 20075911 + 14927270 14930936 + 14774336 14778002 + 1580863;6480464;6907045 11080476;11331621;11689053;12477932;14657027;14702039;15900300;16344560;16618726;17207965;20639865;20972266;21139048;21890473;21906983;21963094;21987572;22053931;22145905;22174317;22505724;22810585;23000965;23383273;25015289;8889548;9566873 55766 H0YFX9;Q9BTM1 ABBA01067884;AC010168;AK001765;AK303301;AL133626;AMYH02026095;BC003602;BM689354;BQ438653;BU594879;CH471094;DA808847;DB084616;KF455607;NM_177925;NR_027716 AAH03602;ADQ32434;BAA91894;BAG64375;EAW96326;EAW96327;NP_808760;Q9BTM1 Hs.524280 1649750;1769512;1797674;2130160;2130920;2140565 A004M21;H2AFJ_1740;RH44875;RH46157;RH47272;STS-H53100 FLJ10903;FLJ52230;H2AJ;H2a/j;MGC921 OTTHUMP00000239324;histone H2A.J APPROVED protein-coding HGNC:14456 13622 REVIEWED 1322551 H2AFV H2A histone family, member V Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p13 44965339 44986571 - 44866488 44887725 - 44826889 44848126 - 6480464;6907045 11080476;11689053;12477932;12853948;14657027;14702039;15489334;16341674;16344560;16457589;16712791;16916647;17573780;18247557;18781797;19322201;19471022;19738201;20003410;20299344;21139048;21145461;21832049;21890473;21906983;21963094;22118674;22505724;22863883;22939629;23000965;23443559;23862649;24311584;24816145;9566873 94239 C9J0D1;C9J386;E5RJU1;Q71UI9 AB209001;ABBA01058236;ABBA01058237;AC004854;AF081192;AK023973;AK025785;AK129989;AL049324;AL110212;AL520785;AL520811;AMYH02015629;BC000098;BC004274;BC014885;BC070169;BF242439;BG679983;BG754026;BG773256;BI257891;BM452844;BM453663;BM850777;BX644511;CB148943;CH236960;CH471128;DA456475;DB460745;KF458450;NM_012412;NM_138635;NM_201436;NM_201516;NM_201517 AAC31938;AAH00098;AAH04274;AAH14885;AAH70169;AAS00365;ABM83332;ABM86544;BAD92238;BAG51243;EAW61074;EAW61075;EAW61076;EAW61077;NP_036544;NP_619541;NP_958844;NP_958924;NP_958925;Q71UI9 Hs.488189 1694468;1721047;1756593;1772645;1775044;2117254;2121599;2122922;2131137;2152751;2165116;2171396;5015861;5022200;5022450;7185938 D10S16;D10S275;D7S2026;G42958;G59505;L18426;RH12554;RH18430;SHGC-11327;SHGC-143629;STS-N94473;STS-T71567;STS-W15301;STS-W72744;WI-18233 FLJ26479;H2A.Z-2;H2AV;MGC10170;MGC10831;MGC1947 H2A.F/Z;OTTHUMP00000159512;OTTHUMP00000159513;OTTHUMP00000159514;OTTHUMP00000159536;OTTHUMP00000208719;OTTHUMP00000208720;OTTHUMP00000225453;OTTHUMP00000225454;histone H2A.F/Z;histone H2A.V;purine-rich binding element protein B APPROVED protein-coding ENSG00000105968 HGNC:20664 13623 REVIEWED 1344236 H2AFB3 H2A histone family, member B3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. [provided by RefSeq, Jul 2008] X X X q28 154271936 154272452 + 154689080 154689596 - 155459419 155459935 - 6480464;6907045 11080476;11266453;11689053;12477932;14657027;15257289;15489334;15772651;16287874;24584930;8528212;9566873 83740 P0C5Z0 ABBA01029146;AF254576;BC101409;BC101415;BC101417;BC101418;BC130510;BC130512;BC134365;BX276110;BX571846;CH471172;NM_080720;X86012 AAI01410;AAI01416;AAI01418;AAI01419;AAI30511;AAI30513;AAI34366;AAL01652;ADR82798;CAA59998;EAW72649;NP_542451;P0C5Z0 Hs.534498;Hs.632841 H2ABBD;H2AFB;H2AFB2 H2A Barr body-deficient;H2A.Bbd;OTTHUMP00000024254;histone H2A-Bbd type 2/3;histone variant H2A, Barr-body deficient APPROVED protein-coding ENSG00000277745 HGNC:14455 300445 REVIEWED 2303437 H2AFVP1 H2A histone family, member V, pseudogene 1 15 15 15 q26.1 69688638 69689237 - 93276901 93277506 - 92733671 92734276 - 654500 ABBA01053096;AC091544;AMYH02031074;NG_009543 1772645 STS-W72744 H2AFVP;HsT19970 APPROVED pseudo HGNC:31026 INFERRED 1347889 H2AFZP1 H2A histone family, member Z pseudogene 1 21 21 21 q22.3 30571487 30572666 - 45465848 45467027 - 44045967 44047146 - 10830953 54049 AB001523;ABBA01074152;AMYH02037906;AP001753;NG_000922;NG_008658;U61521 GT334;H2AFZP APPROVED pseudo HGNC:4742 INFERRED 1603841 H2AFZP2 H2A histone family, member Z pseudogene 2 8 8 8 q13.3 67013316 67014179 - 71015647 71016510 - 70103412 70104275 - 346990 ABBA01041938;AC084251;AMYH02018166;NG_005179 1744301;2191631 GDB:451604;MARC_31601-31602:1045759847:1 APPROVED pseudo HGNC:32279 INFERRED 1347144 H2AFY2 H2A histone family, member Y2 ENCODES a protein that exhibits chromatin DNA binding; transcription regulatory region DNA binding; INVOLVED IN brain development; dosage compensation; establishment of protein localization to chromatin; PARTICIPATES IN histone modification pathway; systemic lupus erythematosus pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Barr body; ESC/E(Z) complex; extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenous acid; copper atom 10 10 10 q22.1 65091467 65151152 + 71812357 71872040 + 70052601 70112284 + 1580863;6480464;6907045;9074213;8554872 24696452 11080476;11262398;11331621;11689053;12477932;14657027;14702039;15164054;15489334;15621527;16385451;18029348;19648962;19734898;20080650;21110914;21139048;21890473;21906983;21907836;21988832;22939629;23000965;24457600;24654937;9566873 55506 Q5SQT3;Q9P0M6 ABBA01019616;ABBA01019617;AC024601;AF151534;AF336304;AK022475;AK022776;AK131057;AL731540;AMYH02023279;AMYH02023280;BC016172;BF439798;CH471083;CX752382;NM_018649 AAF72101;AAH16172;AAK52471;ABZ92485;ADZ15661;BAB14049;BAB14239;EAW54372;EAW54373;EAW54374;NP_061119;Q9P0M6 Hs.499953 1341132;1676324;1752661;1761725;1797676;2151330 D10S529;H2AFY2__1195;RH99102;SHGC-106558;SHGC-145698;SHGC-3495 mH2A2;macroH2A2 OTTHUMP00000019735;OTTHUMP00000019736;core histone macro-H2A.2;core histone macroH2A2.2;histone macroH2A2 protein-coding ENSG00000099284 HGNC:14453 13625 VALIDATED 1349803 H2AFB2 H2A histone family, member B2 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. [provided by RefSeq, Jul 2008] X X X q28 154271944 154272291 + 154610355 154610948 + 155380706 155381299 + 6907045;6480464 11266453;12477932;15257289;15489334;15772651;16287874;22795134;8528212 474381 P0C5Z0 AC234781;AF254576;AMYH02040885;BC101409;BC101415;BC101417;BC101418;BC130510;BC130512;BC134365;BX682237;HY000925;NM_001017991 AAI01410;AAI01416;AAI01418;AAI01419;AAI30511;AAI30513;AAI34366;AAL01652;NP_001017991;P0C5Z0 Hs.534498;Hs.632841 H2A.Bbd;H2AFB3 H2A Barr body deficient;H2A Barr body-deficient;OTTHUMP00000032190;histone H2A-Bbd type 2/3 APPROVED protein-coding HGNC:18298 18663 REVIEWED 731902 H2AFY H2A histone family, member Y Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 130793877 130859396 - 134670071 134735645 - 135334381 135399887 - 1298632;1580863;6480464;6907045;9074213 24696452;9653160 11042152;11080476;11331621;11689053;12082075;12183056;12419249;12477932;12718888;12800201;14657027;14702039;15009096;15053874;15489334;15621527;15897469;15902274;15965484;16107708;16129414;16210244;16428466;16622419;16713569;17036053;17081983;17158748;17322296;17474147;17570398;18053270;18227505;18247557;18781797;19471022;19486527;19648962;19680243;19734898;19738201;20008927;20201926;20379614;20543561;20639865;21110914;21139048;21179167;21502085;21832049;21844227;21890473;21906983;21907836;21963094;21969577;22194607;22391447;22412018;22505724;22589551;22658931;22797925;22939629;23000965;23022728;23031826;23251661;23319141;23372727;23595991;23602568;24071584;24457600;24654937;24752897;24816145;25015289;25027693;9566873;9634239;9714746 9555 B4DJC3;D6RCF2;O75367 AB209490;ABBA01068727;AC026691;AF041483;AF044286;AF054174;AK023409;AK023833;AK092944;AK123153;AK296014;AMYH02012255;AY134746;BC013331;BC045570;BC095406;BE262597;CH471062;NM_001040158;NM_004893;NM_138609;NM_138610;XM_005272132;XM_005272134;XM_005272135 AAC33433;AAC33434;AAC39908;AAH13331;AAH95406;AAN08620;ABZ92484;ADZ16104;BAB14565;BAD92727;BAG58785;EAW62218;EAW62219;EAW62220;EAW62221;EAW62222;NP_001035248;NP_004884;NP_613075;NP_613258;O75367;XP_005272189;XP_005272191;XP_005272192 Hs.420272;Hs.599225 1340515;1660881;1685858;1740389;1780636;1795964;1858267;2163868;2163870;2169781;2177095 A002D42;D5S2115;D5S2212E;G19965;H2AFY_976;RH44864;RH46205;RH80062;SHGC-53813;WI-19826;bac51472T H2A.y;H2A/y;H2AF12M;H2AFJ;MACROH2A1.1;mH2A1;macroH2A1.2 OTTHUMP00000159413;OTTHUMP00000223174;OTTHUMP00000223175;OTTHUMP00000223176;core histone macro-H2A.1;histone H2A.y;histone macroH2A1;histone macroH2A1.1;histone macroH2A1.2;medulloblastoma antigen MU-MB-50.205 APPROVED protein-coding ENSG00000113648 HGNC:4740 13624 610054 REVIEWED 2923058 H2AFZP5 H2A histone family, member Z pseudogene 5 10 10 10 q22.3 72999845 73000232 + 79713253 79713640 + 77953495 77953882 + 100288330 ABBA01020226;AL391421;AMYH02023386;NG_022973 pseudo HGNC:38018 INFERRED 1602818 H2BFM H2B histone family, member M ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); PARTICIPATES IN systemic lupus erythematosus pathway; FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; progesterone; 17alpha-ethynylestradiol (ortholog) X X X q22.2 103725583 103728088 - 103294516 103297021 + 104039949 104042454 + 6907045;6480464 14702039;15772651;16226712;18029348 286436 A9UJN3;P0C1H6;W0TYI6 ABBA01032838;AC234782;AC253567;AI018051;AK093522;NM_001164416;XM_006724640;Z73497 CAA97844;NP_001157888;P0C1H6;XP_006724703 Hs.376474 1341940;1756409;2126851;2137061 AFM191za11;AL023612;L77844;SHGC-143380 H2B/s OTTHUMP00000196847;OTTHUMP00000196848;histone H2B type F-M;histone H2B.s protein-coding ENSG00000101812 HGNC:27867 VALIDATED 1347011 H2BFO H2B histone family, member O 6326092 10339 AL591493;K01887;K01888;NG_001226 H2B/o pseudo HGNC:4759 3563843 H2AFZP3 H2A histone family, member Z pseudogene 3 13 13 13 q32.3 80711200 80711586 - 99867626 99868012 - 99215372 99215758 - 728023 ABBA01027127;AL160155;AMYH02028588;NG_011430 1744301 GDB:451604 FLJ30001 pseudo HGNC:38013 INFERRED 1351367 H2BFS H2B histone family, member S (pseudogene) ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); INVOLVED IN antibacterial humoral response; defense response to Gram-positive bacterium; innate immune response in mucosa; FOUND IN extracellular space; nucleus; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; all-trans-retinoic acid 21 21 21 q22.3 30091648 30092028 + 44985120 44985498 + 43565239 43565617 + 1580863;6480464 10830953;11859126;12477932;12757711;12860195;15019208;15489334;16283522;16307923;16627869;16713563;16916647;20494980;21853274;21906983;23254330;23398456;8620898 54145 P57053 AB041017;ABBA01074126;AP001051;AP001751;BC126339;BC126369;CH471079;NG_006504;NG_011491 BAA95538;BAD74065;EAX09487;P57053 2126683;2220456 UniSTS:482788;UniSTS:494853 APPROVED pseudo HGNC:4762 11017 INFERRED 731613 H2AFZ H2A histone family, member Z Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008] 4 4 4 q24 98166664 98168932 - 100869242 100871512 - 99948085 99950355 - 6480464;6907045;9074213 24696452 10975868;11059755;11080476;11101893;11157489;11331621;11380948;11516949;11689053;11835281;12477932;12660166;14657027;14702039;14759373;15489334;15576338;15815621;15878876;16196087;16319397;16457589;16622419;16627869;16809769;16916647;1697587;17137291;17194760;17636032;17671089;17721549;18247557;18414489;18781797;19246569;19261190;19385636;19515975;19633671;19666485;19834540;19856965;20003410;20023423;20299344;20364108;20473270;20857416;20864037;21139048;21633354;21788347;21853274;21890473;21906983;21963094;22393239;22467210;22493515;22505724;22678762;22863883;23000965;23064015;23108396;23122415;23146670;23245330;23324626;23349794;23398456;23862649;24127549;24311584;24337577;24550385;24657165;24816145;25015289;3344202;7821789;7880446;8020992;8605251;9566873 3015 P0C0S5 ABBA01063674;AC097460;AF304516;AJ406669;AJ406684;AK056803;AK315413;AMYH02009804;AY597416;BC018002;BC020936;BC032524;BC039005;BC103743;CD685635;CH471057;CR457415;D28450;L10138;M37583;NM_002106;X52317;XM_005262971 AAA35984;AAC61625;AAG25670;AAH18002;AAH20936;AAI03744;AAY41013;ABM84142;ABM87544;BAA05816;BAG37803;CAA36553;CAC10733;CAC10748;CAG33696;EAX06118;NP_002097;P0C0S5;XP_005263028 Hs.119192 1648963;1744301;2191631;2217406;5021724 G33878;GDB:451604;H2AFZ_2801;MARC_31601-31602:1045759847:1;ksks443 H2A.Z-1;H2A.z;H2A/z;H2AZ;MGC117173 H2AZ histone;OTTHUMP00000161678;histone H2A.Z APPROVED protein-coding ENSG00000164032 HGNC:4741 00823 142763 REVIEWED 1606133 H2BFWT H2B histone family, member W, testis-specific Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5' UTR of this gene is associated with male infertility.[provided by RefSeq, Jan 2010] X X X q22.2 103754357 103756894 + 103265719 103268259 - 104011147 104013687 - 6907045;6480464;8554872 12477932;15237208;15475252;15489334;16449661;19583817;22509975;24614311 158983 Q7Z2G1 ABBA01032842;AC234782;AC253567;AL034485;AY283369;AY283370;BC038109;BC118604;BC121816;CH471120;NG_016406;NM_001002916 AAH38109;AAI18605;AAI21817;AAP37489;AAP37490;CAI43100;EAX02765;EAX02766;NP_001002916;Q7Z2G1 Hs.127778 5124158 RH93628 MGC148130;MGC148131 OTTHUMP00000196849;histone H2B type W-T APPROVED protein-coding ENSG00000123569 HGNC:27252 15956 300507 REVIEWED 3051028 H2AFZP6 H2A histone family, member Z pseudogene 6 22 22 22 15717682 15718067 - 31917188 31917573 - 31521202 31521587 - 100462800 ABBA01055336;AL096701;AMYH02038240;NG_022870 1823644;1834858;2006728;2006730;2006732;2006734;2006736;2006738;2006740;2006742;2006744;2006746 ECD12914;ECD18578;REN74280;REN74281;REN74282;REN74283;REN74284;REN74285;REN74286;REN74287;REN74288;REN74289 pseudo HGNC:38019 INFERRED 1626136 H3F3AP2 H3 histone, family 3A pseudogene 2 14 14 14 q11.2 3626462 3627716 + 23763755 23765009 + 23294546 23295800 + 664611 ABBA01061318;AL049829;AMYH02028869;NG_006445 H3F3CP APPROVED pseudo HGNC:19823 INFERRED 5490854 H3F3AP3 H3 histone, family 3A pseudogene 3 3 3 q13.13 109127363 109129049 - 109408516 109410202 - 21782046 100689229 ABBA01061689;AC092905;AMYH02007413;NG_029983 p18 pseudo HGNC:42873 INFERRED 3077583 H2AFZP4 H2A histone family, member Z pseudogene 4 11 11 11 67384363 67384745 - 70125021 70125403 - 70278915 70279297 - 100462795 ABBA01010305;AMYH02025048;AP002336;NG_021792 pseudo HGNC:38015 INFERRED 5490849 H3F3AP5 H3 histone, family 3A, pseudogene 5 X X X p11.22 54691887 54692346 + 50648355 50649368 + 50905355 50906368 + 10737800;11181995;21782046 347376 ABBA01060057;AL359914;AMYH02039366;CH471180;NG_029840 EAW89915 p55 pseudo HGNC:42981 INFERRED 1626138 H3F3AP1 H3 histone, family 3A pseudogene 1 15 15 15 q15.1 17006337 17007315 - 40243057 40244035 - 39950856 39951834 - 654505 ABBA01038466;AC012377;AC025168;AMYH02030231;NG_006444;NG_034053 HsT18159 APPROVED pseudo ENSG00000259389 HGNC:31028 INFERRED 5490853 H3F3AP6 H3 histone, family 3A, pseudogene 6 4 4 4 q31.1 137951597 137952606 - 140618780 140619789 - 139697626 139698635 - 19666485;21782046;22623428 644914 Q6TXQ4 ABBA01069968;AC112236;AMYH02010202;AY383568;NG_022939 AAQ96275 p21 pseudo HGNC:42982 INFERRED 5488988 H3F3BP1 H3 histone, family 3B (H3.3B) pseudogene 1 13 13 13 q21.33 53151272 53151715 + 72249199 72249603 + 71675067 71675471 + 100287087 ABBA01050327;AL138698;AMYH02028236;NG_029804 FLJ10138 pseudo HGNC:42030 INFERRED 5490863 H3F3BP2 H3 histone, family 3B (H3.3B) pseudogene 2 17 17 17 23605693 23606271 + 26743929 26744507 + 28416911 28417489 + 100420410 ABBA01015059;AC015917;AMYH02033223;NG_026234 pseudo HGNC:42979 INFERRED 5490845 H3F3AP4 H3 histone, family 3A, pseudogene 4 2 2 2 q31.1 169198037 169199090 + 175584528 175585586 + 174719800 174720858 + 12477932;21782046;3031613 440926 ABBA01062197;AC018890;AK291102;AMYH02005281;BC066901;BC067757;BC081560;NR_002315 AAH81560;BAF83791 Hs.533624 5020354 WI-6046 FLJ78487;MGC87038;MGC87039;MGC87782;p13 pseudo HGNC:42980 PROVISIONAL 733608 H3F3B H3 histone, family 3B (H3.3B) Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is poyadenylated, unlike most histone genes. The protein encoded is a member of the histone H3 family. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 70362565 70365910 - 73772515 73775860 - 75776434 75779779 - 6480464;6907045;9075965 24614311 10096020;11076863;11080476;11230166;11278789;11591653;11689053;11751582;12477932;12909349;14527345;14657027;14702039;14718166;15489336;15616580;15664198;15674325;16189514;16381901;16728976;1748304;17620599;17967883;18029348;18760861;19494831;19633671;20110566;20504901;22174317;22505724;22623428;23463506;24162739;24816145;25015289;7557364;8586426;8889548;9188772;9334241;9566873;9731536 3021 B2R4P9;K7EK07;K7EMV3;K7EP01;K7ES00;P84243 ABBA01028771;AC087289;AF218029;AK054591;AK130772;AK304607;AK312762;AMYH02034000;BC001124;BC006497;BC012813;BC017558;BC020466;BC108701;BM723811;BX537379;BX647280;CH471099;NM_005324;Z48950 AAG17271;AAH01124;AAH06497;AAH12813;AAH17558;AAI08702;ABZ92486;BAG35628;BAG65392;CAA88778;CAD97621;CAL38070;EAW89317;EAW89318;EAW89319;NP_005315;P84243 Hs.180877 1648417;1689698;1694752;1721549;2147858;2158421 G43578;G59779;RH11839;RH16041;RH47096;RH92474 H3.3B;H3F3A H3 histone, family 3A;histone H3.3 APPROVED protein-coding ENSG00000132475 HGNC:4765 03036 601058 REVIEWED 1346464 H2AFX H2A histone family, member X Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 116121998 116123592 - 118964580 118966177 - 119093874 119095467 - 1580863;6480464;6907045;8693737;8693739;8693741;8693718;8661232;8693706;9075965;8693672;8693708;8693742;8661242;7240549 20830300;21533982;21613478;22384017;23108649;23265463;23474136;23726287;23792534;24002223;24239235;24614311 10477747;10734083;10959836;11080476;11110662;11331621;11571274;11673449;11689053;11893489;11927591;12033261;12220643;12372432;12419185;12447390;12477932;12485996;12551934;12556884;12607005;12660252;12689589;12697768;12792649;12915485;12926989;14519663;14627815;14657027;15059890;15064416;15149599;15201865;15279782;15364958;15389585;15485898;15489221;15489334;15574327;15604234;15613478;15655354;15707990;15723802;15733840;15816840;15870294;15905198;16046194;16153602;16169070;16240122;16306615;16310392;16322227;16377563;16382446;16426422;16494514;16494516;16522924;16622419;16628006;16678501;16788066;16820410;16820894;16872365;16909103;16927366;16932743;16953663;17064697;17106266;17110439;17145805;17203247;17227291;17276133;17304220;17327276;17349954;17372987;17498979;17548670;17594478;17620599;17634426;17668632;17709392;17851762;17874213;17904670;17925396;17957241;17974976;18001825;18206537;18274552;18285460;18328813;18344987;18397884;18406329;18457664;18536151;18614045;18616816;18622584;18638378;18656236;18727058;18781797;18829552;18955500;19005492;19020308;19064695;19092802;19107196;19146767;19180575;19202324;19234442;19265496;19273588;19305155;19338747;19351884;19377482;19377486;19397442;19401347;19446503;19477424;19500350;19513550;19536649;19638463;19651821;19657269;19666485;19707781;19766185;19805520;19845771;19850743;19859659;19861731;19895790;19903578;19910469;19952118;19996277;20000738;20023412;20023697;20028875;20046100;20051134;20053681;20062073;20075863;20089662;20101220;20118229;20150765;20157507;20159462;20173316;20224553;20351298;20356835;20360682;20372780;20394854;20448412;20460517;20461094;20488183;20506293;20512932;20569192;20573551;20618440;20639865;20681785;20681793;20811699;20823146;20921231;20936109;20972266;21044950;21068397;21116096;21124906;21131828;21139048;21142613;21182205;21184737;21199394;21224359;21293379;21383063;21463514;21505975;21512825;21566283;21566653;21596504;21622030;21623170;21631283;21676867;21679440;21690091;21704408;21704409;21840613;21853274;21878640;21890473;21900206;21906983;21938931;21963094;21979596;21987572;22053931;22064073;22154951;22170789;22184063;22404984;22442661;22467212;22505724;22586326;22655027;22730535;22787276;22946062;22972498;22980979;22986342;23000965;23045526;23109425;23145133;23306199;23319141;23413139;23449797;23518201;23536437;23545587;23617930;23703345;23726848;23739328;23739334;23777805;23793869;23803252;23862649;23946494;24009179;24021642;24054861;24158819;24163101;24196443;24321564;24352470;24429368;24606682;24654937;24704006;24732096;25015289;2587254;7769017;7929075;8076949;9488723;9566873 3014 P16104 ABBA01039679;AMYH02025661;AP003391;BC004915;BC011694;BC013416;CH471065;CR457079;DQ015918;NG_008093;NM_002105;X14850 AAH04915;AAH11694;AAH13416;AAY22178;CAA32968;CAG33360;EAW67451;NP_002096;P16104 Hs.477879 1647307;1670357;1681720;1682017;1768465;1795962;2108035;2122072;2179864;2190815 A004Z11;D11S4378;DPAGT1_8310;G15876;H2AFX;H2AFX_1240;RH70756;RH80367;STS-M95623;STS-R55620 H2A.X;H2A/X;H2AX H2AX histone;OTTHUMP00000232149;histone H2A.x;histone H2AX APPROVED protein-coding ENSG00000188486 HGNC:4739 03465 601772 REVIEWED 1317993 H3F3A H3 histone, family 3A Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. [provided by RefSeq, Jul 2008] 1 1 1 q42.12 199441492 199450772 + 226250408 226259703 + 226062707 226072002 + 6480464;6907045;9075965 24614311 10464286;10911986;11080476;11242053;11278789;11562345;11591653;11689053;11751582;11850414;11856369;12477932;12529330;12560483;12773393;12871727;12909349;14657027;14718166;15009096;15345777;15471871;15489334;15498874;15525939;15616580;15664198;15669143;15674325;15681610;15684425;15776021;15834423;15851689;16185088;16258499;16267050;16341674;16457588;16497732;16710414;16728978;16916647;17052464;17166833;17172641;17189264;17194708;17403666;17967883;18070919;18187620;18760861;19494831;19633291;19633671;20110566;20153629;20211137;20504901;20525793;20639865;20651253;20876399;20972266;21047901;21163940;21724829;21880731;21890473;21906983;21931800;21963094;21969370;21987572;22195966;22286061;22505724;22623428;22661320;22684280;22863883;23000965;23075851;23079654;23116151;23142979;23222847;23319141;23354654;23414300;23429371;23539183;23603901;23660862;23758177;24162739;24183680;24209620;24229707;24242757;24285547;24337577;24457600;24530302;24590075;24816145;25015289;2859593;3031613;7309716;7821789;8586426;8889548;9334241;9441765;9566873 3020 B2R4P9;B4DEB1;P84243 ABBA01009654;AK293541;AK311905;AL512343;AMYH02002805;BC013857;BC029405;BC038989;BC081561;BC095447;BM760856;CA310975;CH471098;D28384;M11353;M11354;NM_002107;X05855;X05856;X05857 AAA52653;AAA52654;AAH29405;AAH38989;AAH81561;AAH95447;ABM83541;ABM86781;BAA05750;BAG34846;BAG57022;CAA29288;EAW69770;EAW69771;EAW69772;EAW69773;NP_002098;P84243 Hs.533624;Hs.726012 5020354 WI-6046 H3.3A;H3F3;H3F3B;MGC87782;MGC87783 OTTHUMP00000035618;OTTHUMP00000035619;OTTHUMP00000035621;histone H3.3 APPROVED protein-coding ENSG00000163041 HGNC:4764 03082 601128 REVIEWED 1350519 H4F3 H4 histone, family 3 3023 X60653 HGNC:4780 1602137 H2BFXP H2B histone family, member X, pseudogene INTERACTS WITH valproic acid X X X q22.2 103789828 103792112 - 103230502 103232785 + 103975924 103978207 + 6480464 11181995 767811 AC234782;AC253567;AL034485;AY730279;CH471120;NR_003238 Hs.496530 pseudo HGNC:25757 PROVISIONAL 1605172 H3F3C H3 histone, family 3C ENCODES a protein that exhibits nucleosomal DNA binding; INVOLVED IN positive regulation of cell growth; PARTICIPATES IN systemic lupus erythematosus pathway; FOUND IN nuclear euchromatin; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog); 4-vinylcyclohexene dioxide (ortholog) 12 12 12 p11.21 11766941 11767997 - 31944119 31945175 - 31791185 31792241 - 6480464;6907045 12477932;15489334;16541075;17925393;18029348;20639865;20972266;21110914;21274551;21890473;21906983;21963094;21987572;22505724;23000965;23455924;24654937;24816145 440093 Q6NXT2 ABBA01031736;AC023050;AI016942;AMYH02026287;BC066906;CH471116;HQ873957;NM_001013699 AAH66906;ADW85800;EAW88541;NP_001013721;Q6NXT2 Hs.448697 H3.5 OTTHUMP00000212458;histone H3-like;histone H3.3C;histone H3.5;histone variant H3.5 APPROVED protein-coding ENSG00000188375 HGNC:33164 18443 VALIDATED 1315131 HABP4 hyaluronan binding protein 4 INVOLVED IN negative regulation of DNA binding; cellular response to mechanical stimulus (ortholog); FOUND IN cytoplasm; nucleus; sarcomere (ortholog); INTERACTS WITH mercury atom; mercury(0); methylseleninic acid 9 9 9 q22.3-q31 69653998 69695193 + 99212414 99253618 + 96450155 96491336 + 1580863;6480464 10887182;12477932;12505151;1310832;14630798;14699138;14702039;15146197;15164053;15489334;15862299;16169070;16455055;16879614;18788774;19523114;20436279;20551049;21771594;24816145;6457647;9523163 22927 Q5JVS0 AA593631;ABBA01043583;ABBA01043584;AF241831;AK000610;AK025144;AK055161;AK091242;AL133477;AMYH02021297;AMYH02021298;AMYH02021299;BC018788;BI757571;BQ962055;CH471174;CN287447;DR006985;HY139664;NM_014282;U77327;XM_005251812 AAC31117;AAF62546;AAH18788;BAG51477;BAG52315;EAW92651;EAW92652;EAW92653;NP_055097;Q5JVS0;XP_005251869 Hs.494567 1649518;1659741;2153782 A008Z48;D9S1011E;D9S1145 IHABP-4;IHABP4;Ki-1/57;MGC825;SERBP1L OTTHUMP00000021722;chromodomain helicase DNA binding protein 3 interacting protein;intracellular antigen detected by monoclonal antibody Ki-1;intracellular hyaluronan-binding protein 4;ki-1/57 intracellular antigen protein-coding ENSG00000130956 HGNC:17062 13628 VALIDATED 1351201 HADH hydroxyacyl-CoA dehydrogenase This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010] 4 4 4 q22-q26 106205689 106251144 + 108910870 108956331 + 107989714 108035175 + 2302228;2302229;2302232;2306664;2302227;6480464;6484113;6907045;8554872;8699517 11481570;14693719;16088331;17491019;7050060 10068455;10231530;10347277;10840044;10931422;11256614;11451959;11489939;12477932;14702039;15489334;16176262;16344560;17065362;18029348;1835339;19318379;19847302;20301549;20332099;20562859;20877624;20931292;21139048;21252247;21347589;21832049;21890473;21906983;21988832;22271489;22505724;22583614;23273570;23842279;24529757;24583282;8687463;8825408;8889548;9185222;9716664;975867 3033 E9PF18;J3KR89;Q16836 ABBA01063756;ABBA01063757;AC114733;AC118062;AF001902;AF001903;AF001904;AF026853;AF095703;AI017358;AK096018;AK314444;AMYH02009881;BC000306;BM682975;CH471057;DA825380;NG_008156;NM_001184705;NM_005327;X96752;XM_005262972 AAB54008;AAB54009;AAB58153;AAD13581;AAH00306;AAY41050;ABM82345;ABM85519;BAG37053;BAG53198;CAA65528;EAX06218;EAX06219;EAX06220;NP_001171634;NP_005318;Q16836;XP_005263029 Hs.438289 1646065;1674970;1696238;1775323;1851474;2142455;2144839;2150546;2156457;2171386;2174257 D4S1008;D4S2516E;D4S2795;RH18323;SHGC-18755;SHGC-18759;SHGC-51987;SHGC-57594;SHGC-59812;SHGC-67734;SHGC-83599 HAD;HADH1;HADHSC;HCDH;HHF4;M/SCHAD;MGC8392;MSCHAD;SCHAD L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain;OTTHUMP00000162625;OTTHUMP00000162626;OTTHUMP00000219688;hydroxyacyl-coenzyme A dehydrogenase, mitochondrial;medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase;short-chain 3-hydroxyacyl-CoA dehydrogenase APPROVED protein-coding ENSG00000138796 HGNC:4799 601609 REVIEWED 1314539 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 ENCODES a protein that exhibits Rab GTPase binding; Rac GTPase binding; ubiquitin-protein transferase activity; INVOLVED IN Golgi organization; membrane fusion; protein K48-linked ubiquitination; FOUND IN Golgi membrane; INTERACTS WITH atrazine; copper(2+) sulfate; ethyl methanesulfonate 6 6 6 q16.3 105798434 105930284 - 105175968 105307794 - 104728093 104859919 - 6480464 10718198;12421765;12477932;14574404;14702039;15254018;15489334;16344560;17694067;17903292;18391951;18630515;19350571;19448622;19528486;19965620;20546612;21326284;21903422;21988917;22036506;22614015;22889921;22941191;23142381;23412934;23732777;23864022;24190883;24516159;24614889;25026213 57531 E3W983;E5RFX0;E5RHI1;H0YAU8;H0YBH3;H0YC01;H0YC48;Q8IYU2 AB037741;ABBA01014405;ABBA01014406;ABBA01014407;AJ420474;AK124268;AK131207;AK291760;AK292683;AK294164;AK300314;AK311633;AK316091;AL357315;AL513472;AL590402;AL834202;AMYH02014219;AMYH02014220;AMYH02014221;BC034982;BC038119;BC041919;CH471051;DA651352;NM_020771;NR_104424;XM_005267071;XM_005267073;XM_006715528;XM_006715529;XM_006715530 AAH34982;ABM82661;BAA92558;BAF84449;BAF85372;BAG54751;BAG57487;BAG62066;BAH14462;CAD38890;EAW48437;EAW48438;EAW48439;NP_065822;Q8IYU2;XP_005267128;XP_005267130;XP_006715591;XP_006715592;XP_006715593 Hs.434340 1682760;1695600;1701264;2120124;2149675;2159157 D6S2180;RH104260;RH36005;RH92023;SHGC-53557;SHGC-68696 E3 ubiquitin-protein ligase HACE1;HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1;HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1;OTTHUMP00000016907;OTTHUMP00000225657 APPROVED protein-coding ENSG00000085382 HGNC:21033 17086 610876 VALIDATED 1607054 HACL1 2-hydroxyacyl-CoA lyase 1 ENCODES a protein that exhibits carbon-carbon lyase activity; cofactor binding; identical protein binding; INVOLVED IN fatty acid alpha-oxidation; protein oligomerization; ASSOCIATED WITH Biotinidase Deficiency (inferred); FOUND IN peroxisome; INTERACTS WITH aflatoxin B1; cyclosporin A; pirinixic acid 3 3 3 p25.1 15540467 15581279 - 15602239 15643359 - 15560704 15601852 - 6480464;8554872 10468558;11042152;12477932;14561759;14702039;15489334;15644336;16189514;16344560;16756494;17370265;20178365;21708296;21890473;21900206;21906983;21963094;22002062;22939629;23000965 26061 B3KPX4;B4DXR1;C9J306;C9JJM7;F8WCH9;Q7Z773;Q9UJ83 AA643224;ABBA01025138;ABBA01025139;ABBA01025140;AC027129;AF161397;AJ131753;AK056977;AK301546;AK301990;AK302086;AMYH02006332;AMYH02006333;BC001627;BC007440;CH471055;DA609383;DB049608;DB241165;NM_001284413;NM_001284415;NM_001284416;NM_012260;NR_104315 AAF28957;AAH01627;AAH07440;ABM86484;ABW03818;BAG51836;BAG63043;BAG63397;BAG63473;CAB60200;EAW64251;EAW64252;EAW64253;NP_001271342;NP_001271344;NP_001271345;NP_036392;Q9UJ83 Hs.63290 1710430 SHGC-82510 2-HPCL;FLJ55041;HPCL;HPCL2;PHYH2 1600020H07Rik;2-hydroxyphytanol-CoA lyase;2-hydroxyphytanoyl-CoA lyase;OTTHUMP00000160301;OTTHUMP00000209133;OTTHUMP00000209186;OTTHUMP00000209188;phytanoyl-CoA 2-hydroxylase 2;phytanoyl-CoA hydroxylase 2 protein-coding ENSG00000131373 HGNC:17856 09183 604300 VALIDATED 731775 HAAO 3-hydroxyanthranilate 3,4-dioxygenase 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008] 2 2 2 p21 42833485 42858995 - 42994229 43019753 - 42767089 42792613 - 1580863;1300048;6480464;6907045 12007609;12477932;14704851;15489334;15815621;16189514;17213182;19240061;19724865;20211485;20468071;21044950;21900206;23824909;2967497;7514594;8889548;9291104 23498 C9IY88;P46952 ABBA01075076;ABBA01075077;ABBA01075078;AC098824;AK295693;AMYH02003682;AMYH02003683;AMYH02003684;BC029510;BI602406;CB850657;CH471053;CR457063;DT215851;NM_012205;XM_005264230;Z29481 AAH29510;AAY14701;ABM82094;ABM85276;BAG58544;CAA82618;CAG33344;EAX00309;EAX00310;EAX00311;NP_036337;P46952;XP_005264287 Hs.368805 1337364;1660104;2110447;2175823 D17S1192;D2S2259;D2S2613;HAAO_9354 3-HAO;HAD;HAO 3-hydroxyanthranilate oxygenase;3-hydroxyanthranilic acid dioxygenase;OTTHUMP00000201532 APPROVED protein-coding ENSG00000162882 HGNC:4796 05158 604521 REVIEWED 1350340 HABP2 hyaluronan binding protein 2 The protein encoded by this gene is an extracellular serine protease that binds hyaluronic acid and is involved in cell adhesion. The encoded protein is synthesized as a single chain, but then undergoes an autoproteolytic event to form the functional heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This protease is known to cleave urinary plasminogen activator, coagulation factor VII, and the alpha and beta chains of fibrinogen, but not prothrombin, plasminogen, or the gamma chain of fibrinogen. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 10 10 10 q25.3 109038189 109076960 + 115310590 115349361 + 113550831 113589602 + 1304486;1580863;6480464;7240710;8554872 8827452 11217080;11379758;12138371;12386823;12437095;12452440;12477932;12578864;14718574;15164054;15486068;15489334;15543324;15654766;15933067;16153533;16332249;16385451;16461761;17003923;17145954;1724753;17479202;17482622;17540775;18278202;18394684;19105210;19446554;19817990;19913121;20042707;20045910;20301327;20532885;20558613;20628086;20818495;21071862;21098215;21600885;21655671;21737124;22116096;22235940;22308306;22383781;22409238;22421107;22449009;22850287;22906531;22989567;23341458;24075769;9443814 3026 B7Z8Q5;Q14520 ABBA01062992;ABBA01062993;AK290832;AK303759;AK303761;AK303948;AL390197;AMYH02023840;AY534754;BC031412;CH471066;D49742;DC413026;NG_008956;NM_001177660;NM_004132;S83182 AAB46909;AAH31412;AAS16352;ABM81746;ABM84901;BAA08576;BAF83521;BAH14041;BAH14042;BAH14081;EAW49505;NP_001171131;NP_004123;Q14520 Hs.422542 2133331;2155017;2168512;2219114 A007I48;D10S2159;D10S2202;HABP2__6689 FSAP;HABP;HGFAL;PHBP OTTHUMP00000020505;factor VII activating protein;factor VII-activating protease;factor seven-activating protease;hepatocyte growth factor activator-like protein;hyaluronan-binding protein 2;hyaluronic acid binding protein 2;plasma hyaluronan binding protein;plasma hyaluronan-binding protein APPROVED protein-coding ENSG00000148702 HGNC:4798 04890 188050;603924 REVIEWED 1353536 HADHAP1 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 1 4 4 4 q32 163660270 163662967 - 166324839 166327536 - 165403687 165406384 - 19565490;7918661 3031 ABBA01070292;AC012504;AMYH02010441;NG_000863;U04628 AAA69021 1681863;1690740;2138777 RH17550;RH71193;SHGC-34066 HADHAP APPROVED pseudo HGNC:4802 INFERRED 733877 HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008] 2 2 2 p23 26253733 26307825 - 26413504 26467665 - 26190635 26244726 - 1599882;1599884;1600572;1580863;2317625;6480464;6907045;7240710;8554872;8699517 10816122;11124150;1730633;7846063 10075708;11978893;12118083;12413376;12477932;12601813;12754706;12971430;14630990;15146197;15161933;15347768;15489334;1550553;15952740;16055720;16176262;16196087;17081983;17143551;17199921;17313315;18029348;18031367;18045290;18063578;18485779;18676680;19064571;19170196;19615732;19625176;19692168;19737925;19738201;19765186;20186120;20305087;20360068;20532202;20562859;20589231;20736409;20814823;20825197;20877624;21080425;21081666;21139048;21145461;21252943;21319273;21549624;21565611;21890473;21906983;21963094;21988832;22000755;22178446;22190034;22304920;22325456;22471497;22583932;22586326;22746996;22751105;22939629;23000965;23152787;23181366;23253803;23398456;23443559;23455922;23473034;23874603;24255178;24550385;24583282;24657165;24816145;25027693;7738175;7811722;7918661;7958339;8135828;8163672;8770876;8865274;8921383;9003853;9266371;9605857;9739053 3030 B4DRH6;E9KL44;H0YFD6;P40939 AB020811;ABBA01045177;AC010896;AC011742;AI972144;AK293398;AK299258;AK302532;AK313027;AMYH02003457;BC009235;CH471053;CN264228;D16480;FJ626228;GU727642;KF510807;NG_007121;NM_000182;U04627 AAA56664;AAH09235;AAX93141;AAY14643;ABM83702;ABM87022;ADU87643;BAA03941;BAA76735;BAG35861;BAG56906;BAG61288;BAG63804;EAX00703;EAX00704;NP_000173;P40939 Hs.516032 1338371;1679403;1681863;1700350;1734766;1736272;1744287;2108129;2130262;2132803;2138777;2146739;2154570;2163154 A002C23;D12S1229E;D2S1548E;D2S158;G19975;GDB:451574;HADHA-I16;RH103795;RH1478;RH17550;RH47828;SHGC-31508;SHGC-34066;SHGC-945 ECHA;GBP;HADH;LCEH;LCHAD;MGC1728;MTPA;TP-ALPHA 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit;3-oxoacyl-CoA thiolase;78 kDa gastrin-binding protein;OTTHUMP00000122457;gastrin-binding protein;hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit;hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a hiolase/enoyl-coenzyme a hydratase (trifunctional protein), alpha subunit;long-chain 2-enoyl-CoA hydratase;long-chain-3-hydroxyacyl-CoA dehydrogenase;mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit;mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit;mitochondrial trifunctional enzyme, alpha subunit;mitochondrial trifunctional protein, alpha subunit;trifunctional enzyme subunit alpha, mitochondrial APPROVED protein-coding ENSG00000084754 HGNC:4801 02934 600890;609015;609016 REVIEWED 3378737 HADHAP2 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 2 12 12 12 p13.31 10324484 10328446 + 8786899 8790861 + 8634303 8638265 + 399994 ABBA01012245;AC092184;AMYH02025992;NG_005587 1681863;1736272;1744287 D12S1229E;GDB:451574;RH17550 pseudo HGNC:38585 INFERRED 5688493 HAGLR HOXD antisense growth-associated long non-coding RNA INTERACTS WITH all-trans-retinoic acid; silicon dioxide 2 2 2 q31.2 170647102 170662865 - 177037923 177053686 - 176173195 176188958 - 6480464 12477932;16712791;20852632;23535730;24381249;24555823 401022 ABBA01062220;AC009336;AMYH02005297;AMYH02005298;BC030713;BC047481;BG721643;CB153479;DA326484;DA398428;DA736032;DB026150;DB045673;DB067012;DB070590;DB100342;DB100521;HG494910;HG494915;HY018648;HY138745;NR_033979;NR_110458;NR_110459;NR_110460;NR_110461;NR_110462;NR_110463;NR_110464;NR_110465;NR_110466;NR_110467;NR_110468 Hs.98661 1684520 RH92263 HOXD-AS1;Mdgt APPROVED ncrna HGNC:43755 VALIDATED 1315252 H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008] 1 1 1 p36 8404605 8441131 + 9294822 9331396 + 9234764 9271337 + 1625067;1580863;6480464;6784507;6784513;6907045;7240710;8554872;8699517 12858176;19935835;20923496 10349511;10497882;12477932;12831846;14671302;14702039;15280030;15489334;15767211;15827106;16079115;16079116;16091483;16710414;17062770;18029348;18586838;18665910;18963204;19010388;19121282;20200332;20211231;20228249;20800603;21050867;21858044;21869537;22268729;22285204;22306327;22632162;23125313;23333304;23563607;23979790;24631573;24654937;4169027;7106784;8889548;950237 9563 O95479;R4GMU1 ABBA01035548;AJ012590;AK024548;AK026460;AK091191;AL832271;AL833024;AMYH02000237;AY409284;BC007368;BC026099;BC044256;BC069028;BC081559;BC098450;BM974986;CH471130;CR749282;NG_012218;NM_001282587;NM_004285;XM_005263539;XM_005263540;XM_005263541;XM_006711052;Z98044 AAH81559;CAA10071;CAH18137;EAW71613;NP_001269516;NP_004276;O95479;XP_005263596;XP_005263597;XP_005263598;XP_006711115 Hs.463511 2184103;5109281 D1S1425;SHGC-74170 CORTRD1;DKFZp686A01246;G6PDH;GDH;MGC87643 6-phosphogluconolactonase;G6PD, H form;GDH/6PGL endoplasmic bifunctional protein;OTTHUMP00000001703;glucose 1- dehydrogenase;glucose dehydrogenase;glucose dehyrogenase;glucose-6-phosphate dehydrogenase, salivary APPROVED protein-coding ENSG00000049239 HGNC:4795 00681 138090;604931 REVIEWED 736480 HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013] 2 2 2 p23 26307847 26353565 + 26467616 26513333 + 26244748 26290465 + 1600786;1600572;1600779;1600782;1600788;1580863;2317625;6480464;6907045;7240710;8554872;8699517 10816122;11430884;17143551;1730633;8163672;8651282 10075708;12477932;12665801;12721663;12754706;12933794;14630990;14702039;15242332;15489334;1550553;15815621;16196087;16344560;17199921;17314511;18063578;19699128;20305087;20360068;20562859;20825197;20877624;21139048;21319273;21549624;21565611;21853274;21890473;21900206;21988832;22000755;22079093;22190034;22268729;22304920;22375075;22939629;22952844;23000159;23398456;23443559;23455922;23798571;24244333;24255178;24314034;24816145;25027693;7958339;8135828;8921383;9259266;9605857;9739053 3032 B5MD38;C9JE81;C9JEY0;C9K0M0;F5GZQ3;P55084 AB020811;ABBA01045178;ABBA01045179;ABBA01045180;AC010896;AF113209;AK095278;AK130072;AK293142;AK302322;AK304455;AK314455;AMYH02003457;BC014572;BC017564;BC030824;BC066963;CH471053;D16481;D86850;DA067388;DA835045;DB477128;NG_007294;NM_000183;NM_001281512;NM_001281513 AAG39280;AAH14572;AAH17564;AAH30824;AAH66963;AAY14644;ABM83648;ABM86897;BAA03942;BAA22061;BAG37063;BAG56690;BAG63658;BAG65272;EAX00700;EAX00701;EAX00702;NP_000174;NP_001268441;NP_001268442;P55084 Hs.515848 1665208;1665210;1730769;1734778;1773284;1854021 A005T34;D2S1556E;D2S209E;DXS6970E;G20487;RH12545 ECHB;MGC87480;MSTP029;MTPB;TP-BETA 2-enoyl-Coenzyme A (CoA) hydratase, beta subunit;3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit;OTTHUMP00000122456;OTTHUMP00000200808;acetyl-CoA acyltransferase;beta-ketothiolase;hydroxyacyl-Coenzyme A (CoA) dehydrogenase, beta subunit;hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit;mitochondrial trifunctional enzyme, beta subunit;mitochondrial trifunctional protein, beta subunit;trifunctional enzyme subunit beta, mitochondrial APPROVED protein-coding ENSG00000138029 HGNC:4803 00887 143450;609015 REVIEWED 8662249 HAGLROS HAGLR opposite strand (non-protein coding) q31.2 102800310 AA430081;AA780126;HG494920;HY007937;HY032350;NR_110457 Hs.599655 ncrna HGNC:50646 VALIDATED 736414 HAMP hepcidin antimicrobial peptide The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 32486848 32489484 + 35773410 35776046 + 35282507 35285143 + 727307;704404;1599358;1580863;6480464;7240710;8554872;8699517 11113132;12469120 11034317;11113131;11836175;12010514;12138110;12393428;12433676;12477932;12637325;12663437;12915468;12975309;14630809;14670915;14702039;15057824;15124013;15124018;15178582;15198949;15489334;15514116;15671438;15685557;15725899;15797999;15831700;15933050;15998830;16103673;16204153;16315135;16460831;16737972;16769573;16769583;16835372;16929540;16937259;16946298;16952548;16962038;17112858;17229646;17229647;17331161;17488680;17559363;17577979;17613866;17721544;17766053;17768112;17847004;17905608;17905609;17951471;17962361;18023212;18073346;18278547;18304682;18322945;18326817;18333366;18421430;18462824;18495462;18541040;18544472;18556388;18603562;18641032;18671304;18676162;18680715;18694648;18758412;18762941;18775801;18809758;18827264;18970934;19032104;19059216;19070948;19093740;19099655;19150361;19214511;19231148;19252486;19254567;19287179;19291818;19292870;19346972;19387685;19414861;19423366;19454498;19478464;19483160;19541813;19553669;19589941;19610021;19652026;19652645;19656379;19679815;19681654;19711434;19715836;19729219;19734422;19740974;19787796;19816411;19850683;19882752;19890342;19907144;19924283;20007134;20019408;20026331;20102409;20113314;20124516;20191031;20299375;20301349;20502037;20526394;20587610;20620527;20634490;20653062;20655381;20660052;20679527;20721554;20800515;20801192;20863724;20888657;20924211;20937842;21031015;21039223;21075282;21088809;21095135;21103663;21126372;21143009;21143959;21145254;21149632;21150441;21183736;21199652;21209031;21219868;21283681;21285884;21289291;21333642;21346250;21401300;21499082;21508121;21518494;21535154;21593278;21609320;21654163;21733041;21810240;21818622;21873546;21873547;21876117;21882342;21885789;21886780;21971825;21988832;22023767;22118000;22125467;22227182;22228627;22248501;22249207;22365732;22398782;22525500;22609894;22611157;22676252;22682226;22682227;22689680;22768976;22776295;22792339;22815544;22819549;22844726;22851866;22869521;22932892;22951294;23012398;23041085;23062413;23065424;23065507;23065513;23088733;23110054;23144745;23148308;23154866;23179904;23293962;23300182;23335357;23375327;23379486;23380741;23390091;23390933;23438894;23460869;23531037;23536837;23580428;23618075;23647063;23656728;23665668;23700338;23760782;23798368;23836842;23842708;23846698;23852902;24014495;24157792;24179092;24204002;24236640;24244576;24334869;24387766;24478088;24596418;24875397 57817 P81172 ABBA01018738;ABBA01018739;AD000684;AF131292;AF147355;AF309489;AJ277280;AK096110;AMYH02035982;AY358669;BC020612;DQ496109;NG_011563;NM_021175 AAG23966;AAH20612;AAK14912;AAQ89032;ABF47098;CAC09419;NP_066998;P81172 Hs.8821 5015619;5016596;5020948;5022578;5037552 D11S3114;D1S1423;D8S2279;G35510;GDB:631802 HEPC;HFE2B;LEAP-1;LEAP1;PLTR hepcidin;liver-expressed antimicrobial peptide 1;putative liver tumor regressor APPROVED protein-coding HGNC:15598 05925 606464;613313 REVIEWED 1353845 HAO1 hydroxyacid oxidase (glycolate oxidase) 1 This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008] 20 20 20 p12 7933209 7990669 - 7863631 7921093 - 7882984 7940446 - 1580863;6480464;6907045;8554872 10777549;10978532;11780052;12477932;14623081;15489334;15956068;17669354;18215067;20054120;20178365;20189245;21141873;23263487;9891009 54363 A8K058;Q9UJM8 AB024079;ABBA01053917;AF231916;AF244134;AK289423;AK308963;AK313839;AL021879;AL121739;AMYH02036677;BC113665;BC113667;CH471133;HB890852;HC948261;KF456808;NM_017545 AAF40199;AAF63219;AAI13666;AAI13668;ADR82966;BAA82872;BAF82112;BAG36571;CAB57329;CBF69668;CBU94371;EAX10379;EAX10380;EAX10381;NP_060015;Q9UJM8 Hs.193640 1658579;1768360;2173769 RH36339;SHGC-33251;WI-16702 GOX;GOX1;HAOX1;MGC142225;MGC142227 (S)-2-hydroxy-acid oxidase;OTTHUMP00000030231;glycolate oxidase;hydroxyacid oxidase 1 APPROVED protein-coding ENSG00000101323 HGNC:4809 05429 605023 REVIEWED 736814 HAGH hydroxyacylglutathione hydrolase The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] 16 16 16 p13.3 2071349 2089441 - 1859104 1877195 - 1809103 1827194 - 1580863;1300048;6480464;6907045;7240710 10508780;11157797;11368412;1192606;12012344;12204678;12477932;1459997;15117945;15489334;15616553;16289162;16803681;16831876;18344682;19413286;20237496;20877624;21044950;21139048;2164460;21832049;21988832;23824909;24816145;3025077;3382669;3663711;6463589;7327557;7585456;8550579 3029 H3BPK3;H3BPQ4;H3BQW8;H3BV79;Q16775 ABBA01030294;ABBA01030295;ABBA01030296;AC012180;AE006639;AK290155;AK298174;AK299173;AK299993;AK308825;AMYH02031236;AY576804;BC000840;BC002627;BG703401;BI758286;BU176541;CH471112;DB502986;DR006636;NG_023249;NM_001040427;NM_001286249;NM_005326;X90999 AAH00840;AAH02627;AAK61294;ABM82146;ABM82147;ABM85329;ABW03710;BAF82844;BAG60445;BAG61219;BAG61813;CAA62483;EAW85609;EAW85610;EAW85611;NP_001035517;NP_001273178;NP_005317;Q16775 Hs.157394 1652989;1680190;2126182;2141240 RH36497;RH66746;RH78672;RH79938 GLO2;GLX2;GLXII;HAGH1;glx II OTTHUMP00000158839;OTTHUMP00000158840;glyoxalase II;hydroxyacyl glutathione hydrolase;hydroxyacylglutathione hydrolase, mitochondrial;hydroxyacylglutathione hydroxylase APPROVED protein-coding HGNC:4805 00731 138760;614033 REVIEWED 737010 HAND1 heart and neural crest derivatives expressed 1 The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008] 5 5 5 q33 149930197 149933489 - 153854532 153857824 - 154474972 154478264 - 1580863;727442;6480464 12359233 10189962;10611232;10837146;10924525;11802795;11812799;1182795;12477932;12858532;14636580;15489334;15509787;16043483;18276607;19060921;19586923;20398657;21350214;21519287;21561848;22032825;22043484;22323723;23292007;24182332;8012384;9337404;9931445 9421 O96004 ABBA01026238;AC026688;AF061756;AF063012;AMYH02012503;BC021190;CH471062;NM_004821;XM_005268531;Z63841 AAD19280;AAD19283;AAH21190;ABZ92217;EAW61636;NP_004812;O96004;XP_005268588 Hs.152531 1725993 G62348 Hxt;Thing1;bHLHa27 OTTHUMP00000160696;class A basic helix-loop-helix protein 27;eHand;extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1;heart- and neural crest derivatives-expressed protein 1 APPROVED protein-coding ENSG00000113196 HGNC:4807 03871 602406 REVIEWED 731603 HAND2 heart and neural crest derivatives expressed 2 The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008] 4 4 4 q33 171772735 171776461 - 174447652 174451378 - 173526501 173530227 - 727442;5132894;6480464;8554872 12359233;12955401 10189962;10924525;11076755;11812799;11994297;12477932;12858532;14506227;14636580;14702039;15351717;15486975;16280598;16467358;19008477;19348682;20386744;20634891;20819618;21241805;21350214;21431856;21527398;21890473;22323723;22505724;23000965;23449628;24210200;24265601;24745730;9500550;9878849 9464 H0YAH1;P61296 ABBA01070377;ABBA01070378;AC093849;AF087940;AF087941;AK122739;AMYH02010520;AMYH02010521;BC101406;BC101974;BC109383;BF313018;CH471056;FJ226608;NM_021973 AAD13185;AAD13186;AAI01407;AAI01975;AAI09384;ACI42790;BAG53697;EAX04749;EAX04750;NP_068808;P61296 Hs.388245 1647591;1851881;2113636;2181107 SHGC-67913;STS-N68754;UniSTS:478956;WI-12683 DHAND2;FLJ16260;Hed;MGC125303;MGC125304;Thing2;bHLHa26;dHand OTTHUMP00000218966;OTTHUMP00000218982;basic helix-loop-helix transcription factor HAND2;class A basic helix-loop-helix protein 26;deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2;heart- and neural crest derivatives-expressed protein 2 APPROVED protein-coding ENSG00000164107 HGNC:4808 03872 602407 REVIEWED 736448 HAO3 hydroxyacid oxidase (glycolate oxidase) 3 1300048 51273 7247661 HAND2-AS1 HAND2 antisense RNA 1 (head to head) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; progesterone 4 4 4 q34.1 171776692 171788064 + 174451583 174463083 + 173530458 173541830 + 6480464;8554872 12477932;14702039;18171985;19348682 79804 AB075501;ABBA01070378;AC093849;AK054605;AK123668;AMYH02010522;BC101437;BC101981;BC122524;DQ831955;DQ831956;EF529495;EF529496;EF529497;EF529498;EF529499;EF529500;EF529501;EF529502;EF529503;EF529504;EF529505;EF529506;EF529507;EF529508;EF529509;EU000853;EU000854;EU000855;EU000856;HG497497;HG497498;HG497499;HG497501;HG497502;HG497504;HG497505;HG497506;HG497508;HG497509;HG497510;HG497511;HG497512;HG497513;HG497514;HG497515;HG497519;HG497521;NR_003679 Hs.61435 1647437;1651595;1697242;1699288;2154099;2170959;5014051;5022651 D11S2921;D4S1072;D8S2278;RH102115;RH103227;RH36263;SHGC-59351;STS-R66064 DEIN;NBLA00301;RP11-471J12.1 ncrna ENSG00000237125 HGNC:48872 PROVISIONAL 68517 HAL histidine ammonia-lyase Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 12 12 12 q22-q24.1 96033432 96056362 - 96366440 96390143 - 95972662 95996365 - 1300048;1580863;6480464;6907045;7240710;8554872 12477932;15489334;15741241;15806399;18280705;18641401;20237496;2055114;21139048;7916645;8530107 3034 F8VNX0;F8W0V1;H0YHB0;P42357;Q4VB95 AB042217;AB191160;AB191161;AB191162;AB191163;AB191164;AB191165;AB191166;AB191167;ABBA01053319;AC007298;AC126174;AI248003;AK297004;AK298736;AK303544;AL596896;AMYH02026994;BC096096;BC096097;BC096098;BC096099;CH471054;D16626;D43619;NG_008180;NM_001258333;NM_001258334;NM_002108;XM_005268821 AAH96096;AAH96097;AAH96098;AAH96099;BAA04047;BAB61863;BAE72109;BAE72110;BAE72111;BAE72112;BAE72113;BAE72114;BAE72115;BAE72116;BAG59540;BAG60883;BAG64570;EAW97554;EAW97555;EAW97556;NP_001245262;NP_001245263;NP_002099;P42357;XP_005268878 Hs.190783;Hs.742210 1644367;1663324;1685147;1707536;1715345;1744041;1745865;1746859;1778137;1852160;2172263;2219116 D12S1891;G64828;GDB:384907;GDB:679297;HAL__6690;RH120504;RH44629;RH67993;RH98658;SGC33859;SHGC-84577;STS-R01181 HIS;HSTD OTTHUMP00000243562;OTTHUMP00000243565;histidase;histidine ammonia lyase APPROVED protein-coding ENSG00000084110 HGNC:4806 07187 235800;609457 REVIEWED 1346012 HAO2 hydroxyacid oxidase 2 (long chain) This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 p13.3-p13.1 118142224 118167573 + 119911399 119936753 + 119368776 119394130 + 1580863;6480464;6907045;8554872 10777549;12477932;15489334;16710414;16712791;17299377;19692168;20178365;20877624;22658862 51179 Q5QP02;Q9NYQ3 AA919149;ABBA01068514;AF203975;AF231917;AK298289;AL139346;AL359553;AMYH02001816;AY513277;BC020863;BG428999;CB121424;CH471122;NG_011967;NM_001005783;NM_016527;XM_005270913;XM_005270914;XM_005270915;XM_005270916;XM_005270917;XM_005270918 AAF14000;AAF40200;AAH20863;AAT08030;ABM86089;ABW03772;BAG60549;EAW56698;EAW56699;NP_001005783;NP_057611;Q9NYQ3;XP_005270970;XP_005270971;XP_005270972;XP_005270973;XP_005270974;XP_005270975 Hs.659767 1697512;2108131;2116272 AL009854;HAO2_8036;RH102259 GIG16;HAOX2 (S)-2-hydroxy-acid oxidase, peroxisomal;OTTHUMP00000014339;OTTHUMP00000014486;cell growth-inhibiting gene 16 protein;glycolate oxidase;growth-inhibiting protein 16;hydroxyacid oxidase 2;long chain alpha-hydroxy acid oxidase;long-chain L-2-hydroxy acid oxidase APPROVED protein-coding ENSG00000116882 HGNC:4810 05532 605176 REVIEWED 6481100 HAO2-IT1 HAO2 intronic transcript 1 (non-protein coding) 1 p12 119368946 119370331 + 100874270 ABBA01068514;AL139346;AMYH02001816;AW300409;NG_011967;NR_046780 ncrna ENSG00000230921 HGNC:41342 VALIDATED 1346855 HAPLN1 hyaluronan and proteoglycan link protein 1 ENCODES a protein that exhibits hyaluronic acid binding (inferred); INVOLVED IN cell adhesion (inferred); extracellular matrix organization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular matrix; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; copper atom 5 5 5 q14.3 78839034 78921911 - 82934017 83016896 - 83638198 83721077 - 1580863;6480464;8554872 10198161;11027579;11038300;11493848;12429048;12477932;12663660;12888576;14724283;15456769;15489334;15590670;17207965;1725805;17903305;19351750;19556317;19834535;2030970;20453000;20584105;20950796;20953637;21139048;21832049;22138694;22159717;22589738;2286376;2320422;2336413;23748413;2738916;7694569;7945259;9712087 1404 D6RAK7;D6RBS1;D6RBX9;D6RC59;D6RFI7;D6RG04;P10915 ABBA01062084;AC020899;AK313713;AMYH02011715;AMYH02011716;AMYH02011717;BC057808;CH471084;KC877031;M63579;NM_001884;U43328;X17405;X78076 AAA85216;AAH57808;ADQ32992;BAG36456;CAA35462;EAW95912;EAW95913;EAW95914;NP_001875;P10915 Hs.2799 1656524;1662823;1679419;1716833;1721295;1741745;1790329;1791756;2114137;2219794;5094342;5094965 B298ZG1;CRTL1;D5S2594;G54722;G59644;GDB:182583;HAPLN1;HAPLN1__6693;PMC123659P2;RH121710;RH92223;STS-N22614 CRTL1 Cartilage link protein;OTTHUMP00000147586;OTTHUMP00000222407;OTTHUMP00000223069;cartilage linking protein 1;cartilage-link protein;cartilage-linking protein 1;proteoglycan link protein protein-coding ENSG00000145681 HGNC:2380 00275 115435 VALIDATED 1317582 HAGHL hydroxyacylglutathione hydrolase-like ENCODES a protein that exhibits hydrolase activity (inferred); hydroxyacylglutathione hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN glutathione biosynthetic process (inferred); metabolic process (inferred); PARTICIPATES IN pyruvate metabolic pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 16 16 16 p13.3 977123 979880 + 776958 779715 + 726924 729715 + 6480464;6907045;8554872 11157797;12477932;14702039;17207965;20237496;21890473;23455922 84264 B4DED4;H3BN70;H3BQ57;H3BR74;H3BT20;H3BU61;I3L1B7;I3L1W0;I3L3H5;Q6PII5 AB209331;ABBA01030352;ABBA01030353;AE006464;AK054841;AK098340;AK293575;AMYH02031205;BC004353;BC015008;BC033796;BC036747;BG338261;BG469685;BG821643;BI333301;BI818409;BX090134;CD050886;CH471112;NG_032932;NM_001290137;NM_001290139;NM_032304;XM_005255629;XM_005255630;XM_005255631;XM_005255632;XR_429647;XR_429648;Z98258 AAH04353;AAH15008;AAH33796;AAK61250;ADQ32666;BAB70814;BAD92568;BAG57045;EAW85725;EAW85726;EAW85727;EAW85728;EAW85729;EAW85730;EAW85731;EAW85732;EAW85733;NP_001277066;NP_001277068;NP_115680;Q6PII5;XP_005255686;XP_005255687;XP_005255688;XP_005255689 Hs.124015 2179214 SHGC-60761 MGC2605 GLO2-like/ RJD12;OTTHUMP00000244017;OTTHUMP00000244018;hydroxyacylglutathione hydrolase-like protein protein-coding ENSG00000103253 HGNC:14177 17087 VALIDATED 1317673 HAPLN3 hyaluronan and proteoglycan link protein 3 This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 65821836 65840086 - 89420519 89438857 - 88877288 88895626 - 1580863;6480464 12477932;12663660;12975309;15489334;16502470;17207965;20664984;20950796 145864 H3BRY4;H3BT26;H3BTH8;Q96S86 ABBA01053002;ABBA01053003;AC067805;AC103982;AK292055;AK292103;AMYH02031012;AY037161;AY262759;AY358500;BC053689;BC062320;CH471101;NM_178232;XR_243204 AAH62320;AAK67639;AAP22051;AAQ88864;ADQ32130;BAF84744;BAF84792;EAX02022;EAX02023;EAX02024;NP_839946;Q96S86 Hs.447530 1645051;1672129;1765691;2109377 A007F16;HAPLN3__6694;SHGC-149131;STS-R72651 EXLD1;HsT19883 OTTHUMP00000192919;extracellular link domain containing, 1 APPROVED protein-coding ENSG00000140511 HGNC:21446 13629 REVIEWED 1351001 HAPLN2 hyaluronan and proteoglycan link protein 2 ENCODES a protein that exhibits hyaluronic acid binding (inferred); INVOLVED IN cell adhesion (inferred); establishment of blood-nerve barrier (inferred); extracellular matrix assembly (inferred); FOUND IN extracellular matrix (inferred); proteinaceous extracellular matrix (inferred); INTERACTS WITH 5-fluorouracil; arsane; arsenic atom 1 1 1 q23.1 129659883 129666327 + 156589085 156595517 + 156619294 156625725 + 1580863;6480464 11027579;11817897;11873941;12477932;12663660;14702039;15489334;19034380;19633295;20950796;22082156 60484 Q5T3J1;Q9GZV7 AB049054;AB049061;ABBA01016652;AK090712;AK293797;AK294131;AK308805;AK308980;AK310758;AL365181;AMYH02001977;BC029864;CH471121;NM_021817;XM_005245415;XM_006711481;XM_006711482 AAH29864;BAB17662;BAB17669;BAG52217;BAH11597;BAH11680;EAW52933;EAW52934;NP_068589;Q9GZV7;XP_005245472;XP_006711544;XP_006711545 Hs.410719 BRAL1 OTTHUMP00000031987;OTTHUMP00000031988;brain link protein 1;brain link protein-1 protein-coding ENSG00000132702 HGNC:17410 17088 VALIDATED 1346103 HAPP huntingtin-associated protein 1, pseudogene 68261 7477378 8304 P54255 U38372 HGNC:4815 1601808 HARBI1 harbinger transposase derived 1 ENCODES a protein that exhibits metal ion binding (inferred); nuclease activity (inferred); INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); FOUND IN centrosome; cytoplasm; INTERACTS WITH copper(2+) sulfate; kojic acid; 3,4-methylenedioxymethamphetamine (ortholog) 11 11 11 p11.2 46772812 46786910 - 46624856 46638933 - 46603306 46617302 - 6480464 12477932;14702039;15169610;15489334;16341674;18029348;18339812;20694011 283254 E9PK24;E9PQI1;Q96MB7 ABBA01060736;AC127035;AK057237;AMYH02024708;AMYH02024709;BC036925;BM768489;CH471064;NM_173811;XM_005252876;XM_005252877;XM_006718207 AAH36925;BAB71391;EAW67992;EAW67993;EAW67994;NP_776172;Q96MB7;XP_005252933;XP_005252934;XP_006718270 Hs.714463 1705892;5024756;5037552 D8S2279;RH80030;SHGC-81211 C11orf77;FLJ32675 OTTHUMP00000233318;harbinger transposase-derived nuclease;putative nuclease HARBI1 protein-coding HGNC:26522 08728 615086 VALIDATED 68454 HAP1 huntingtin-associated protein 1 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21.2-q21.3 36530004 36542110 - 39878891 39890898 - 41722639 41734646 - 68261;1302538;1580863;1300048;6480464;6907045 11971876;7477378 10087300;10629618;10974549;11133992;12021262;12881483;14702039;15383276;15654337;15737634;16169070;16344560;16712791;16713569;17569884;18192679;18922795;19262167;19996106;20512606;21357693;21386698;21900206;21985783;22404213;22698993;22731248;22960999;23440330;9361024;9454836;9599014;9668110;9742138;9798945 9001 H7BZC9;H7C0W9;H7C295;P54257 AB209105;ABBA01006453;ABBA01006454;AC109319;AF040723;AJ012824;AJ224877;AK022007;AMYH02033411;CB128405;CH471152;DA203084;DA231862;NG_009090;NM_001079870;NM_001079871;NM_177977;U38371 AAC39861;AAC50297;AAI56729;BAB13952;BAD92342;CAB82785;CAC09418;EAW60757;EAW60758;EAW60759;EAW60760;EAW60761;NP_001073339;NP_001073340;NP_817084;P54257 Hs.158300 1728217;5017227;5024039;5024756;5037552 D16S325;D8S2279;G38154;G63531;RH80030 HAP-1;HAP2;HIP5;HLP;hHLP1 OTTHUMP00000164746;OTTHUMP00000164747;OTTHUMP00000232821;OTTHUMP00000232822;huntingtin-associated protein 2;neuroan 1 APPROVED protein-coding ENSG00000173805 HGNC:4812 02972 600947 REVIEWED 1601892 HAR1A highly accelerated region 1A (non-protein coding) INTERACTS WITH 17beta-estradiol; lead(0); lead(2+) 20 20 20 q13.33 58410173 58413267 + 61732644 61735737 + 63101292 63104385 + 6480464 12477932;16915236;18054202 768096 ABBA01021381;ABBA01021382;ABBA01021383;ABBA01021384;AL096828;AMYH02037448;BC035016;BC047717;DQ860409;NR_003244 Hs.549606 HAR1F;LINC00064;NCRNA00064 ncrna HGNC:33117 610556 PROVISIONAL 1601891 HAR1B highly accelerated region 1B (non-protein coding) 20 20 20 q13.33 58404374 58411201 - 61726845 61733671 - 63095493 63102319 - 16915236 768097 ABBA01021381;ABBA01021382;AL096828;AMYH02037448;DQ860410;DQ860411;NR_003245 Hs.635159 HAR1R;LINC00065;NCRNA00065 ncrna ENSG00000231133 HGNC:33118 610557 PROVISIONAL 1348635 HAPLN4 hyaluronan and proteoglycan link protein 4 ENCODES a protein that exhibits hyaluronic acid binding (inferred); INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN proteinaceous extracellular matrix (inferred); INTERACTS WITH atrazine; cyclosporin A; N-nitrosodiethylamine 19 19 19 p13.1 19270520 19277666 - 19366450 19373596 - 19255641 19262787 - 1580863;6480464;8554872 11572484;12477932;12663660;14550776;19633295;20950796;23974872 404037 Q86UW8 AB107883;ABBA01051321;AC138430;AL389941;AMYH02035752;AY262756;BC142644;BC142698;CH471106;NM_023002 AAI42645;AAI42699;AAP22048;BAC79077;EAW84804;NP_075378;Q86UW8 Hs.367829 1734700;1772247;2219120 D19S696E;HAPLN4__6695;WI-16296 BRAL2;KIAA1926 brain link protein 2 protein-coding ENSG00000187664 HGNC:31357 13630 VALIDATED 1343910 HAS1 hyaluronan synthase 1 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 19 19 19 q13.4 49265901 49276762 - 52216365 52227239 - 51713112 51723986 - 1580863;6480464;8554872 10093717;11790779;12239172;12477932;12720129;14636845;15731173;15794859;15870928;16258173;16564133;16723203;16786194;17324121;17353931;17611197;17904513;17922656;18199543;18400745;18815290;19148550;19362966;19435493;19451652;19577615;19737932;20072653;20875124;20960509;21901291;22529214;22695958;22934709;22939629;23123404;23301075;23303191;23383108;23560496;24097068;24099991;24658508;3099751;8651928;8798544;9169154 3036 G3V1S7;M0QXH4;M0R1L3;M0R2V0;Q8IYH3;Q92839 ABBA01068264;ABBA01068265;AC018755;AM904814;AMYH02036391;AMYH02036392;AY916554;AY916555;AY916556;BC035837;BX371636;CH471135;D84424;NM_001297436;NM_001523;U59269;XM_005258834 AAC50706;AAF87845;AAH35837;AAY52130;AAY52131;AAY52132;ABM82145;ABM85328;BAA12351;CAP17884;EAW72038;EAW72039;NP_001284365;NP_001514;Q92839;XP_005258891 Hs.57697 1678473 RH68308 HAS;huHAS1 HA synthase 1;hyaluronate synthase 1;hyaluronic acid synthase 1 APPROVED protein-coding ENSG00000105509 HGNC:4818 03271 601463 REVIEWED 732743 HAS2 hyaluronan synthase 2 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq, Jul 2008] 8 8 8 q24.12 118814049 118842240 - 122624356 122653675 - 121613031 121641390 - 1580863;6480464;8554872 10093717;11790779;12477932;14636845;14752026;14988410;15489334;15642402;15677552;15722343;15843373;15922739;16564133;16603733;16687630;16786194;16807238;17307735;17315194;17324121;17611197;17872502;18587729;19231585;19416972;19435493;19577615;20072653;20379614;20507985;20522558;20875124;20960509;21228273;21357421;21546767;21551265;21743962;21795679;22016393;22113945;22162480;22298898;22404213;22473523;22529214;22695958;22742591;22825838;22887999;22960332;23251661;23303191;23397370;23452080;23560496;23806178;23916661;23979132;24314882;24333416;24347629;8798477;9169154 3037 B4DN16;Q92819 ABBA01037850;AC022909;AC104233;AK297724;AMYH02018690;BC069353;BC109071;BC109072;CH471060;CS279104;CS389034;CS409308;CS410366;NM_005328;U54804 AAC50692;AAH69353;AAI09072;AAI09073;BAG60078;CAJ87378;CAL40919;CAL44783;CAL47700;EAW92010;NP_005319;Q92819 Hs.159226 1336806;1797122;2219122;5122799 D8S1101;HAS2;HAS2__6698;RH47010 MGC126241;MGC126242 HA synthase 2;OTTHUMP00000228014;hyaluronate synthase 2;hyaluronic acid synthase 2 APPROVED protein-coding HGNC:4819 07045 601636 REVIEWED 1350214 HARS histidyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 5 5 5 q31.3 136130237 136147719 - 140053490 140071681 - 140673904 140691727 - 1580863;6480464;8699517;8554872;7240710 11829477;12056811;12471150;12477932;12802020;14702039;15489334;1549469;15604093;17043677;17665459;17785330;18029348;20159979;2023220;20736164;21110914;21139048;21890473;21906983;21963094;22279524;22326685;22797925;22863883;22930593;22939629;22958643;23422076;24250222;24286268;24816145;24898250;2996334;3464104;3554142;7755634;8049265;8125298;8406012;8929351 3035 B3KWE1;B4DDD8;B4E1C5;D6RF05;E7ETE2;P12081 ABBA01026422;ABBA01026423;AC116353;AK000498;AK055917;AK124831;AK225776;AK293154;AK293531;AK295219;AK302295;AK303778;AK307669;AMYH02012340;AY995220;BC011807;BC080514;BI259343;CH471062;DC394573;M96646;NG_032158;NM_001258040;NM_001258041;NM_001258042;NM_001289092;NM_001289093;NM_001289094;NM_002109;U18936;X05345;XM_005268428;Z11518 AAA58668;AAA73973;AAH11807;AAH80514;AAX99363;ADZ15383;BAG54103;BAG56699;BAG57013;BAG58213;BAG63635;BAG64737;CAA28956;CAA77607;EAW62021;EAW62022;EAW62023;NP_001244969;NP_001244970;NP_001244971;NP_001276021;NP_001276022;NP_001276023;NP_002100;P12081;XP_005268485 Hs.528050 1658667;1729009;1732529;1735520;1735580;1775876;1794772;2112204;2128329;5014051;5015619;5037552;5113478 D11S3114;D5S1658E;D5S1691E;D5S2775;D6S939;D8S2278;D8S2279;Hars;PMC55343P6;RH67434;RH70258;SHGC-17214;WI-19187 FLJ20491;HRS;HisRS;USH3B OTTHUMP00000159884;OTTHUMP00000223659;OTTHUMP00000223661;OTTHUMP00000223662;OTTHUMP00000223663;OTTHUMP00000223664;OTTHUMP00000224325;histidine tRNA ligase 1, cytoplasmic;histidine translase;histidine--tRNA ligase;histidine--tRNA ligase, cytoplasmic;histidine-tRNA ligase;histidyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000170445 HGNC:4816 00827 142810;614504 REVIEWED 5688628 HAUS1P1 HAUS augmin-like complex, subunit 1 pseudogene 1 5 5 5 q31.3 136037827 136038875 + 139961078 139962126 + 140581493 140582541 + 728921 ABBA01026426;AC116353;AMYH02012339;NG_009848 pseudo HGNC:43760 INFERRED 5688624 HAUS1P2 HAUS augmin-like complex, subunit 1 pseudogene 2 X X X p22.13 23003537 23004918 + 18883488 18884869 + 18865370 18866751 + 441484 ABBA01071698;AL096700;AMYH02038956;NG_009849 1644293;1689412;2139718 A007B02;G09341;RH65844 pseudo HGNC:43761 INFERRED 1350380 HAS3 hyaluronan synthase 3 The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 16 16 16 q22.1 53649484 53661945 + 69139467 69152622 + 69105564 69118719 + 1580863;6480464;8554872 10794710;11278609;11378333;11431361;11790779;11851874;12477932;14566823;14636845;16564133;16786194;16900089;18587729;18821565;19231585;19435493;19913121;20507985;20628086;20849445;20875124;21429221;21906983;22695958;23303191;23560496;23979132;24470002;24509846;24658508;9083017;9169154 3038 H3BRH5;O00219;Q96RV2 ABBA01025513;ABBA01025514;AC009027;AF232772;AF234839;AK291400;AMYH02032271;AW294351;BC021853;CH471092;FJ648810;FJ648811;NM_001199280;NM_005329;NM_138612;U86409;XM_005255920;XM_005255921 AAC51209;AAF36984;AAH21853;AAK73797;ACN41863;ACN41864;BAF84089;EAW83247;EAW83248;NP_001186209;NP_005320;NP_619515;O00219;XP_005255977;XP_005255978 Hs.592069 1653462;1657530;1737595;1846922;2148497;2163923;5092832 A006H34;D16S2678;D16S3301;G32357;RH48919;SHGC-60590;SHGC-60824 HA synthase 3;OTTHUMP00000174869;OTTHUMP00000174870;hyaluronate synthase 3;hyaluronic acid synthase 3 APPROVED protein-coding ENSG00000103044 HGNC:4820 03889 602428 REVIEWED 5688632 HAUS1P3 HAUS augmin-like complex, subunit 1 pseudogene 3 8 8 8 q13.3 69533606 69534737 - 73530746 73531877 - 72618511 72619642 - 100271703 ABBA01041959;AC022881;AMYH02018197;NG_009850 pseudo HGNC:43762 INFERRED 1352732 HARS2 histidyl-tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 5 5 5 q31.3 136147766 136155638 + 140071011 140078903 + 140691426 140699318 + 1580863;6480464;8699517;7240710;8554872 10430027;12477932;15489334;1549469;16344560;17081983;20186120;20381070;20877624;21464306;21890473;21906983;21963094;21988832;22190034;23473034;24250222;24816145;25254289;7755634;8406012;9445076 23438 B4DDN8;B4DQ67;D6R9M5;D6RB22;D6RJE6;P49590 ABBA01026422;AC116353;AI865702;AK293269;AK293390;AK298661;AK299971;AK309832;AK311277;AK312976;AMYH02012340;BC007680;BC014982;BQ228600;CH471062;DA150729;NG_021415;NM_001278731;NM_001278732;NM_012208;U18936;U18937;XM_006714777;XM_006714778 AAA73972;AAA73974;AAH07680;AAH14982;ABM83567;ABW03517;BAG35813;BAG56799;BAG56899;BAG60829;BAG61797;EAW62019;EAW62020;NP_001265660;NP_001265661;NP_036340;P49590;XP_006714840;XP_006714841 Hs.432560 1858092;2140398;2140400 A005U15;D5S2381;G20504 HARSL;HARSR;HO3;PRLTS2;hisRS HARS-related;OTTHUMP00000159881;OTTHUMP00000223668;histidine tRNA ligase 2, mitochondrial (putative);histidine translase;histidine-tRNA ligase homolog;histidyl-tRNA synthetase 2, mitochondrial (putative);probable histidine--tRNA ligase, mitochondrial;probable histidyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000112855 HGNC:4817 02871 600783;614926 REVIEWED 1346730 HAUS1 HAUS augmin-like complex, subunit 1 HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] 18 18 18 q21.1 40505073 40515227 + 43684298 43708299 + 46104332 46128333 + 737633;1580863;6480464 12477932 14702039;15082789;15232106;15489334;18029348;18443220;19369198;19427217;19615732;20360068;21139048;21890473;21906983;22053931;22505724;23383273;23443559;23455924;23793025;24816145 115106 K7EJA9;K7EK72;K7EKH4;K7EM54;K7EQT8;K7ES67;Q96CS2 ABBA01022325;AC012569;AK024747;AK097403;AK315605;AMYH02034654;AMYH02034655;AY360137;BC005958;BC014003;CH471088;NM_138443;NR_026978 AAH05958;AAH14003;AAQ63649;BAC05036;BAG37974;EAX01469;NP_612452;Q96CS2 Hs.436617 1644293;1689412;2150372;2158618 A007B02;RH17845;RH65844;SHGC-35952 CCDC5;FLJ21094;FLJ40084;HEI-C;HEIC;HsT1461 HAUS augmin-like complex subunit 1;OTTHUMP00000163476;coiled-coil domain containing 5 (spindle associated);coiled-coil domain-containing protein 5;enhancer of invasion-cluster APPROVED protein-coding ENSG00000152240 HGNC:25174 16385 608775 VALIDATED 2300354 HAS2-AS1 HAS2 antisense RNA 1 8 8 8 q24.13 118840197 118846175 + 122651586 122657565 + 121639346 121645325 + 15843373;17903294 594842 ABBA01037850;AC104233;AMYH02018690;AY941178;BX101304;HG501614;HG501615;NR_002835 Hs.668686 HAS2-AS;HAS2AS;HASNT;NCRNA00077 APPROVED ncrna HGNC:34340 614353 VALIDATED 5688629 HAUS4P1 HAUS augmin-like complex, subunit 4 pseudogene 1 1 1 1 q24.2 143447880 143449359 - 170338059 170339538 - 170368918 170370397 - 100129402 ABBA01027944;AL354732;AMYH02002121;NG_013098 1693236;1725051;2178797 AL009668;AL033569;RH118821 pseudo HGNC:43763 INFERRED 5688625 HAUS6P1 HAUS augmin-like complex, subunit 6 pseudogene 1 7 7 7 p12.1 53315554 53317359 + 53254829 53256634 + 53187136 53188941 + 653175 ABBA01011828;AC073318;AMYH02015719;NG_005557 pseudo HGNC:43764 INFERRED 5688633 HAUS6P2 HAUS augmin-like complex, subunit 6 pseudogene 2 20 20 20 q11.21 26685439 26688110 - 29929177 29932657 - 31341374 31344854 - 100133268 ABBA01019310;AL031650;AMYH02036892;NG_029308 pseudo HGNC:43765 INFERRED 1317198 HAUS5 HAUS augmin-like complex, subunit 5 HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] 19 19 19 q13.12 32817103 32829715 + 36103646 36116251 + 35612744 35625349 + 737633;6480464 12477932 10048485;15489334;18443220;19369198;19427217;21890473;21900206;21906983;21987572;22505724;22797925;23443559;23455922 23354 K7EQ61;O94927;U3KQG4;U3KQJ5 AB020648;ABBA01018749;ABBA01018750;AC002115;AK307703;AMYH02035986;BC013947;BC064390;BC157882;BC171905;NM_015302;XM_006723119;XR_243915 AAH13947;AAH64390;AAI57883;AAI60190;BAA74864;NP_056117;O94927;XP_006723182 Hs.7426 1698884;5024039 D16S325;RH103009 KIAA0841;dgt5 HAUS augmin-like complex subunit 5 APPROVED protein-coding ENSG00000249115 HGNC:29130 613432 VALIDATED 1320176 HAUS6 HAUS augmin-like complex, subunit 6 The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 9 9 9 p22.1 18979336 19029095 - 19053135 19102940 - 19053137 19102942 - 737633;6480464 12477932 10997877;11076863;11230166;14702039;15164053;15489334;15489336;16344560;16381901;16565220;16964243;18029348;18443220;19029337;19322201;19369198;19427217;20360068;20379614;21139048;21832049;21903422;21906983;21963094;22239941;22505724;23443559;23455924;24250222;24816145;8125298 54801 Q5SYF9;Q5VY60;Q7Z4H7 AB046794;ABBA01065219;ABBA01065220;ABBA01065221;ABBA01065222;AF533709;AF537091;AK000067;AK022964;AK023068;AK056458;AK225209;AK301852;AL356000;AL591206;AL832495;AMYH02019256;AMYH02019257;BC010632;BC026178;BC065935;BC071625;BC111041;BC113981;BC114492;CH471071;DB010660;NM_001270890;NM_017645 AAH10632;AAH26178;AAH65935;AAH71625;AAI11042;AAI13982;AAI14493;AAN05700;AAQ09022;BAA90922;BAB13400;BAB14334;BAB14388;BAG51716;BAG63294;CAL38345;EAW58652;NP_001257819;NP_060115;Q7Z4H7 Hs.533468 1335359;1337814;1646875;1651889;1666362;1668911;1672812;1687500;1703936;1714265;1747769;1758681;1786510;1857010;1857738;2123736;2127111;2143343;2155728;2164844;2171279;5095054;7184002;7186787 D7S1481;D7S1899;D7S1911;D7S2475;D7S622;G17200;G66879;GDB:1317858;GDB:1318146;GDB:1318274;GDB:1318396;GDB:1318722;GDB:6028664;HNRPU;RH119911;RH18125;RH47086;RH92872;SHGC-149156;SHGC-83645;SHGC-84178;WI-7584 Dgt6;FAM29A;MGC102696;MGC138798;MGC138799;RP11-296P7.3 HAUS augmin-like complex subunit 6;OTTHUMP00000021100;OTTHUMP00000021101;dim gamma-tubulin homolog;family with sequence similarity 29, member A APPROVED protein-coding ENSG00000147874 HGNC:25948 13302 613433 REVIEWED 1312658 HAUS3 HAUS augmin-like complex, subunit 3 HAUS3 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Nov 2010] 4 4 4 p16.3 2142444 2156208 - 2230096 2243860 - 2228369 2242133 - 737633;6480464 12477932 14702039;18443220;19369198;19427217;19812674;20360068;21139048;21890473;21906983;22797925;23443559;23455924;24250222 79441 B4DF64;D6R993;Q68CZ6 ABBA01029517;AF040964;AK056134;AK293948;AL158068;AMYH02008604;BC003648;BC025356;CH471131;CR749640;NM_024511 AAB97010;AAH03648;AAH25356;BAG57325;CAH18434;EAW82537;NP_078787;Q68CZ6 Hs.665869 1699102;1699668;1850015;2130651;2141370;5022200;5022578;5024039;5037552;5109281;7184652 D16S325;D1S1423;D1S1425;D4S43;D8S2279;L18426;RH103127;RH103438;SHGC-24794;SHGC-50550;SHGC-59813 C4orf15;DKFZp686I1868;IT1;MGC4701;dgt3 HAUS augmin-like complex subunit 3;OTTHUMP00000216558;OTTHUMP00000216559 APPROVED protein-coding ENSG00000214367 HGNC:28719 10784 613430 PROVISIONAL 1321425 HAUS2 HAUS augmin-like complex, subunit 2 HAUS2 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] 15 15 15 q15.2 19608717 19629901 + 42841011 42862192 + 42548813 42569994 + 737633;6480464 12477932 11076968;12221128;12434312;12852856;14654843;14702039;15489334;16169070;16344560;16462731;18029348;18443220;19369198;19427217;20360068;21139048;21900206;21906983;23443559;7790358 55142 H3BP16;H3BP24;H3BQU2;H3BR32;H3BTG9;J3QT48;Q9NVX0;U3KQI5 ABBA01038367;ABBA01038368;AC018362;AI368236;AK001322;AK022939;AMYH02030286;AMYH02030287;AX882431;BC010903;CH471125;CS300643;CS300644;DA923763;DB450370;NM_001130447;NM_018097;XM_006720600 AAH10903;BAA91623;BAB14319;CAE91578;CAK32307;CAK32308;EAW92566;EAW92567;EAW92568;EAW92569;EAW92570;EAW92571;EAW92572;NP_001123919;NP_060567;Q9NVX0;XP_006720663 Hs.14347 1736732;2141496;2170699;2185085;5015861;5015961;5022578;5037552;7185938 D10S16;D15S1477;D15S751;D1S1423;D8S2279;DXS9774;STS-AA031915;STS-AA039304 C15orf25;CEP27;FLJ10460;HsT17025 HAUS augmin-like complex subunit 2;OTTHUMP00000161265;centrosomal protein 27kDa;centrosomal protein of 27 kDa;chromosome 15 open reading frame 25 APPROVED protein-coding ENSG00000137814 HGNC:25530 07675 613429 VALIDATED 1313228 HAUS4 HAUS augmin-like complex, subunit 4 This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009] 14 14 14 q11.2 3278327 3289241 - 23415437 23426352 - 22946228 22957142 - 6480464 12477932;14702039;15489334;15790807;19369198;19427217;20360068;21139048;21890473;21963094;22505724;23277564;23443559 54930 G3V2I5;G3V4X7;G3V541;G3V5A5;G3V5Z2;H0YIZ6;H0YJ09;Q9H6D7 ABBA01061295;ABBA01061296;AK000431;AK026016;AK057779;AK097980;AL132780;AMYH02028856;AY927599;BC001916;BC002554;BQ066232;BX247981;BX247995;BX248256;CH471078;NM_001166269;NM_001166270;NM_017815 AAH01916;AAH02554;BAA91161;BAB15322;CAD62315;CAD62328;CAD62584;EAW66206;EAW66207;EAW66208;EAW66209;EAW66210;EAW66211;EAW66212;EAW66213;EAW66214;EAW66215;NP_001159741;NP_001159742;NP_060285;Q9H6D7 Hs.442782;Hs.727321 1677272;1699518;2147783;2147870;2180086;5014051;5015961;5016478;5017266;5020740;5021228;5021872;5022200;5022651;5024413;5037552;5092900 A009C02;D11S2921;D15S1477;D8S2278;D8S2279;G32401;G35356;GDB:312794;GDB:434012;L17809;L17877;L18426;L18506;RH103353;RH69229;RH93779;sY3084 C14orf94;FLJ20424;FLJ40661 HAUS augmin-like complex subunit 4;OTTHUMP00000027923;OTTHUMP00000164554;OTTHUMP00000164555;OTTHUMP00000246049;OTTHUMP00000246050;OTTHUMP00000246051;OTTHUMP00000246073;homologous to Augmin subunits APPROVED protein-coding ENSG00000092036 HGNC:20163 12663 613431 REVIEWED 1313912 HAT1 histone acetyltransferase 1 The protein encoded by this gene is a type B histone acetyltransferase (HAT) that is involved in the rapid acetylation of newly synthesized cytoplasmic histones, which are in turn imported into the nucleus for de novo deposition onto nascent DNA chains. Histone acetylation, particularly of histone H4, plays an important role in replication-dependent chromatin assembly. Specifically, this HAT can acetylate soluble but not nucleosomal histone H4 at lysines 5 and 12, and to a lesser degree, histone H2A at lysine 5. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jun 2009] 2 2 2 q31.2-q33.1 166395980 166464808 + 172778935 172848600 + 171922425 171983686 + 1580863;2316578;6480464;9104959 17182829;21151613 10911985;11329013;11492997;11585814;12408818;12477932;12775419;14718166;15161933;15489334;15815621;16344560;17052979;17081983;17207965;17609381;18029348;18458078;18781797;19410544;19615732;19815555;19862764;20080577;20224553;20504901;20562859;20639865;20953179;21139048;21145461;21890473;21906983;21963094;21987572;22053931;22190034;22228774;22505724;22615379;22797925;22863883;22939629;22990118;23000965;23281010;23653357;24116224;24654937;24816145;25027693;9427644 8520 F8W9G7;F8WEW1;O14929 ABBA01020730;ABBA01020731;ABBA01020732;ABBA01020733;AC015976;AC114745;AF030424;AK127840;AK309001;AK313699;AMYH02005225;AMYH02005226;AMYH02005227;BC018682;BC045673;BC063003;BG184638;CH471058;DB050336;NM_003642;NR_027862;XM_006712808 AAC02425;AAH18682;AAH63003;AAX93247;AAY14731;ADQ32532;EAX11194;EAX11195;NP_003633;O14929;XP_006712871 Hs.632532 1645818;1650231;1734830;1849564;2190971;2217408;5016478;5017326;5020635 A002M36;D2S1585E;D7S3207;D8S377;GDB:434012;HAT1_3911;MARC_12189-12190:1004712897:1;RH46263;SHGC-36760 KAT1 OTTHUMP00000163124;histone acetyltransferase type B catalytic subunit APPROVED protein-coding ENSG00000128708 HGNC:4821 04339 603053 REVIEWED 5688634 HAUS8P1 HAUS augmin-like complex, subunit 8 pseudogene 1 12 12 12 114162604 114163175 + 114535457 114536028 + 114097652 114098223 + 100420901 ABBA01019969;AC010183;AMYH02027249;NG_024131 pseudo HGNC:43766 INFERRED 6484042 HAVCR1P2 hepatitis A virus cellular receptor 1 pseudogene 2 4 4 4 115071378 115072251 + 117779252 117780125 + 116858096 116858969 + 100421002 ABBA01063863;AC093765;AMYH02009976;NG_025245 pseudo HGNC:44035 INFERRED 1604614 HAUS7 HAUS augmin-like complex, subunit 7 This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] X X X q28 152946833 152970312 - 152713123 152760983 - 153447665 153495525 - 6480464 11076863;11163772;11256614;11278605;12477932;15489334;15489336;16189514;16344560;16381901;16395595;18029348;19369198;19427217;19447967;20360068;21906983;21963094;22053931;22505724;22623531;22939629;23443559;9099879 55559 A6NDA1;H7BZF8;Q6ZUX9;Q99871 ABBA01045390;ABBA01045391;ABBA01045392;ABBA01045393;ABBA01045394;ABBA01045395;ABBA01045396;ABBA01045397;AF267739;AK125219;AK296147;AK300650;AK302066;AL122036;AMYH02040833;AMYH02040834;AMYH02040835;AMYH02040836;BC008141;BC047613;BC113839;CA441020;CH471172;DA272550;DB248557;KF459502;NG_012688;NM_017518;NR_073156;U82695 AAF75785;AAH08141;BAC86087;BAG58886;BAG62338;BAG63456;CAB59176;CAL38035;EAW72866;EAW72868;EAW72869;EAW72871;EAW72874;NP_059988;Q99871 Hs.170835;Hs.743822 1702960;2140925;2167932 A002T09;DXS6999E;DXS7074 HSXQ28ORF;UCHL5IP;UIP1 26S proteasome-associated UCH interacting protein 1;26S proteasome-associated UCH37-interacting protein 1;HAUS augmin-like complex subunit 7;OTTHUMP00000025921;UCH37 interacting protein 1;UCHL5 interacting protein;UCHL5-interacting protein;X-linked protein STS1769;expressed-Xq28STS protein APPROVED protein-coding ENSG00000213397 HGNC:32979 18695 300540 REVIEWED 1352552 HAVCR1 hepatitis A virus cellular receptor 1 The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 5 q33.2 152482103 152511651 - 156455989 156486130 - 157028978 157058959 - 1580863;5128853;5128852;5128851;6480464;7240710;7245479;7245951;7245489;7245498;7244372;7245471;7245497;7245500;7244370;7244373;7244382;7245473;7245495;7245952;7245953;7245499;7246890;7246891;7245484;7245950;7245472;7245969;7245970;7245960;7245477;7245980;7245982;7244371;7245478;7245983;7245985;7245470;7245480;8554872 12081583;12388382;15153541;16159638;16467126;17213874;20628202;20980978;21279810;21467131;21630304;22015481;22257277;22269876;22342673;22367506;22923545;22937747;22984472;22997966;23019274;23085062;23085980;23131280;23135864;23200959;23220287;23307618;23319831;23335628;23352434;23435265;23547217;23552495;23673972;23683031 11725301;12138159;12477932;12618867;12893810;14534576;14630400;14637143;15007635;15086915;15300647;15489334;15867855;16344560;16481347;16713569;16940744;17117951;17205356;17229699;17371991;17570927;17703412;18052965;18082433;18165774;18273441;18294362;18453570;18466531;18715847;18769021;18802347;19060906;19167431;19173034;19247692;19258923;19264973;19387469;19424017;19476019;19480659;19494522;19522876;19572801;20070602;20232767;20233133;20237496;20304168;20331378;20388397;20447817;20479636;20503287;20549518;20571754;20686565;20819195;20972250;21339644;21367814;21378325;21402675;21412435;21513984;21536871;21723753;21996225;22080624;22190394;22290466;22484054;22495365;22515481;22709877;22710823;22749388;22843853;22857392;23026578;23220501;23233528;23267147;23505323;23599408;23698310;23936859;23964107;24044353;24054338;24158981;24286866;24321290;24375576;24384771;24390735;24404151;24523388;24696470;24829508;9557657;9658108 26762 E5RIF6;E9PFX0;Q96D42 AB607987;ABBA01044276;ABBA01044277;AC026777;AF043724;AK298259;AMYH02012545;AW604297;BC013325;CH471062;CR457114;DA378449;DA384612;HQ412639;HQ412640;HQ412641;NG_017001;NM_001099414;NM_001173393;NM_012206;XM_006714840 AAC39862;AAH13325;ABM83696;ABM87018;ADZ24772;ADZ24773;ADZ24774;BAG60523;BAJ61033;CAG33395;EAW61615;EAW61616;NP_001092884;NP_001166864;NP_036338;Q96D42;XP_006714903 Hs.129711 HAVCR;HAVCR-1;KIM-1;KIM1;TIM;TIM-1;TIM1;TIMD-1;TIMD1 OTTHUMP00000224005;OTTHUMP00000224052;OTTHUMP00000224053;T cell immunoglobin domain and mucin domain protein 1;T-cell immunoglobulin mucin family member 1;T-cell immunoglobulin mucin receptor 1;T-cell membrane protein 1;kidney injury molecule 1 APPROVED protein-coding ENSG00000113249 HGNC:17866 09404 147050;606518 REVIEWED 1604254 HAUS8 HAUS augmin-like complex, subunit 8 HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] 19 19 19 p13.11 17062089 17087860 - 17160571 17186428 - 17049761 17075613 - 6480464 12477932;12601173;18362163;18443220;19369198;19427217;19776357;20360068;21139048;21705324;21832049;24250222;24816145 93323 M0R1H1;M0R3B3;Q9BT25 ABBA01051179;AC020908;AK295994;AMYH02035693;AY211919;BC004398;BC010176;BC040564;BI829542;BM563712;BX111116;CH471106;NM_001011699;NM_033417;XM_005260154 AAH04398;AAH10176;AAO65172;BAG58769;EAW84570;EAW84571;NP_001011699;NP_219485;Q9BT25;XP_005260211 Hs.404088 DGT4;HICE1;MGC20533;NY-SAR-48 HAUS augmin-like complex subunit 8;HEC1/NDC80 interacting, centrosome associated 1;HEC1/NDC80-interacting centrosome-associated protein 1;Hec1-interacting and centrosome-associated 1;sarcoma antigen NY-SAR-48 APPROVED protein-coding ENSG00000131351 HGNC:30532 11318 613434 VALIDATED 6484016 HAVCR1P1 hepatitis A virus cellular receptor 1 pseudogene 1 19 19 19 p 24191761 24193015 - 24344995 24346249 - 24162193 24163447 - 100101266 ABBA01051454;AC073534;AI283084;AMYH02035854;BX114328;NR_003603 Hs.149312;Hs.744836 pseudo ENSG00000268442 HGNC:44033 PROVISIONAL 1607073 HAX1 HCLS1 associated protein X-1 The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127316760 127320072 + 154245039 154248351 + 154272563 154275875 + 6480464;7240710;8554872;8699517 10760273;11554782;12477932;12787133;15159385;15339924;15489334;15604093;16169070;16189514;16196087;16857965;16971486;17010949;17110338;17187068;17207965;17906618;17929250;18055975;18319618;18330843;18337561;18399350;18457437;18472110;18513342;18611981;18971376;19254774;19298594;19380743;19524642;19605487;19664597;19679660;19680265;19796188;19913549;19928538;20065084;20171186;20196840;20220065;20309963;20388708;20406461;20631090;20665473;20696135;21108402;21109726;21139048;21145461;21206270;21301993;21343306;21415862;21518791;21567072;21890473;21906983;21963094;21987572;21988832;22451114;22505724;22570112;22827267;22939629;23000965;23055567;23164465;23443559;23454784;23531395;23602568;23975175;24057929;24188827;24341138;24347163;24482108;24816145;9058808 10456 E9PIQ7;O00165;Q5VYD6 ABBA01049476;ABBA01049477;AK290626;AK294298;AK300676;AK310000;AK311450;AK313291;AL354980;AMYH02001920;BC005240;BC014314;BC015209;BC016730;BF668367;CH471121;EU190982;EU190983;NG_007369;NM_001018837;NM_006118;U68566 AAB51196;AAH05240;AAH14314;AAH15209;AAH16730;ABW73998;ABW73999;ADQ31612;ADZ15371;BAF83315;BAG57580;BAG62359;EAW53212;NP_001018238;NP_006109;O00165 Hs.199625 1659372;1660718;1660720;1850545;1851248;1852896;2125146;2185429 Cda13d03;D1S3020;RH18226;RH45154;RH67854;RH71253;SHGC-33740;STS-W90414 FLJ17042;FLJ18492;FLJ93803;HAX-1;HCLSBP1;HS1BP1;HSP1BP-1;SCN3 HCLS1 (and PKD2) associated protein;HCLS1-associated protein X-1;HS1 binding protein;HS1-associating protein X-1;HS1-binding protein 1;OTTHUMP00000034190;OTTHUMP00000034191;OTTHUMP00000034192;OTTHUMP00000231810;OTTHUMP00000231812 APPROVED protein-coding ENSG00000143575 HGNC:16915 12075 605998;610738 REVIEWED 1313140 HAVCR2 hepatitis A virus cellular receptor 2 The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011] 5 5 5 q33.3 152539374 152562664 - 156512843 156536248 - 157085832 157109237 - 1580863;5128852;5135524;5135525;5135530;6480464;7245954;7245505 16159638;17517968;21263071;21382414;22172823;22472081 11725301;11823861;12477932;14556005;14556006;14702039;15153541;15325803;15342556;15489334;15603868;15867855;16286920;16344560;16456792;16685421;16754722;16940744;17069754;17096021;17207965;17430399;17665973;17703412;18006747;18052965;18294362;18354161;18401547;18485114;18785518;19001139;19005181;19100864;19104436;19258923;19332093;19395088;19414817;19480659;19494522;19566956;19587053;19676072;19768575;19789190;19913121;20083673;20133006;20176801;20331378;20503287;20574007;20628086;20656318;20805041;20811886;20819923;21048031;21084749;21367814;21392402;21402546;21446887;21519864;21565238;21621846;21637332;21717191;21807895;21832049;21844165;21989170;22177036;22294262;22323453;22363469;22371007;22383801;22387059;22426209;22469568;22505239;22539292;22587604;22733499;22738814;22792231;22842346;22863785;22875804;22968087;23029209;23117395;23144609;23161469;23180819;23291409;23314411;23334427;23335978;23359271;23365080;23385979;23388728;23505323;23526963;23555248;23665438;23773130;23791624;23837986;23866914;23886204;23922299;23936526;23967307;24007284;24083425;24121505;24195506;24209883;24231118;24337741;24339967;24477913;24512143;24855276 84868 E5RFR4;E5RHN3;Q8TDQ0 ABBA01044273;ABBA01044274;AC011377;AF251707;AF450242;AF450243;AK027334;AK130144;AK314406;AMYH02012545;AMYH02012546;AMYH02012547;AY069944;BC020843;BC063431;BP291914;CH471062;CQ834184;JX049979;NG_030444;NM_032782 AAH20843;AAH63431;AAL55401;AAL65157;AAL65158;AAM19100;ADQ32599;AFO66593;BAB55044;BAG37029;CAH05307;EAW61613;EAW61614;NP_116171;Q8TDQ0 Hs.710500 5024761;5109283;5118444 D11S3316;D1S1431;RH36905 FLJ14428;HAVcr-2;KIM-3;TIM3;TIMD-3;TIMD3;Tim-3 OTTHUMP00000160742;OTTHUMP00000224056;T cell immunoglobulin mucin 3;T cell immunoglobulin mucin-3;T-cell immunoglobulin and mucin domain-containing protein 3;T-cell immunoglobulin mucin family member 3;T-cell immunoglobulin mucin receptor 3;T-cell membrane protein 3;kidney injury molecule-3 APPROVED protein-coding ENSG00000135077 HGNC:18437 16227 606652 REVIEWED 1345937 HBBP1 hemoglobin, beta pseudogene 1 INTERACTS WITH clorgyline; formaldehyde; vincristine 11 11 11 p15.5 5381858 5383492 - 5263184 5264822 - 5241954 5243592 - 6480464 15108284;20183929;22943111;23094636;23251661;23263863;2649166;6098690 3044 ABBA01028649;AC104389;AMYH02024255;N55205;NG_000007;NR_001589;X02133 Hs.20205 1667928;1741159;1741407;1771618;1794450;1810628;1810998;1818878;1829050;1829052;2052524;2052526;2052528;2052530;2052532;2052534;2052536;2052538;2052540;2052542;2052544;2052546;2052548;2052550;2052552;2052554;2052556;2105504;2105506;2105508 ECD06308;ECD06497;ECD10503;ECD15652;ECD15653;GDB:178389;GDB:181105;PMC314215P1;REN97419;REN97420;REN97421;REN97422;REN97423;REN97424;REN97425;REN97426;REN97427;REN97428;REN97429;REN97430;REN97431;REN97432;REN97433;REN97434;REN97435;WI-11766;WI-17827;stSG610837;stSG610838;stSG610839 HBH1;HBHP pseudo HGNC:4828 VALIDATED 1606036 HBAP1 hemoglobin, alpha pseudogene 1 16 16 p13.3 218640 219451 + 168641 169452 + 1549498;2411938;2831226;4135409;6089189;6297773;6308667;7402334;7407925;822353 3041 ABBA01030387;AMYH02031180;J00153;NG_000006;Z84721 1809690;1812580;1832766;2047618;2047620;2047622;2047624;2047626;2047628;2047630;2047632;2047634;2047636;2047638;2047640;2047642;2104458 ECD05837;ECD07300;ECD17524;REN94945;REN94946;REN94947;REN94948;REN94949;REN94950;REN94951;REN94952;REN94953;REN94954;REN94955;REN94956;REN94957;stSG608917 HBA-T1;HBA3;HBA3P pseudo HGNC:4825 VALIDATED 1351471 HBA1 hemoglobin, alpha 1 The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 426194 427035 + 226679 227520 + 176680 177521 + 1600805;1600800;1600808;1600818;1600802;1600810;6480464;6907045;7240710;8699517;8554872 10477710;10569720;2599879;2833478;3142772;7786798 10206681;10390349;10569723;10722118;10722119;108887;11157797;1115797;1115799;11304851;1138883;11402454;11410421;11499613;11558897;11570726;1164512;1174563;1177322;11791872;1182166;11833853;11877072;1191675;11939517;11939522;12054662;12200073;1225585;12477932;12525687;1259994;12646258;12665801;12667291;12673836;12779278;13260359;13454817;13500096;13703277;13863929;13872627;13954546;14093912;14236737;1428941;1428950;1428951;14508795;14576901;14649314;14649316;1486044;15008259;15008263;15008266;1511986;1512262;15174051;15182057;15365991;15481890;15489334;1549498;15495251;15616553;15768555;15824313;15882059;15921163;15921165;15941417;16042697;16123516;16169070;1618774;16302974;1634355;1634357;1634363;16370488;16466950;16540409;16545695;1671772;16728641;16760505;16822864;1686260;16898315;16933182;17040989;17070510;17129226;17132905;17191128;17351274;17394396;17512924;17626702;17691822;17724704;17916326;17938644;1802882;1802885;18166800;18211634;18215251;18343267;18458302;18485513;18571503;18582194;18609043;18654888;18667812;18689979;18694998;18772456;18809301;18932070;18932071;19096518;19119852;19135755;19168253;19189299;19215610;19288145;19341324;19359777;19371220;19390853;19404566;19482015;19492149;19533865;19535894;19614793;19651813;19657833;19667949;19738201;19740759;1975428;19766903;19774216;1983218;19843387;19878106;19929282;19946888;20080971;20103712;20139978;20144437;20171600;20190015;20215002;20301608;20308881;20353346;20398260;20517157;20598923;20674309;20682466;20709501;2079430;2079432;20832374;20836851;20854119;20923991;2101836;21062041;21075281;2108715;21093939;21111636;21139250;2117321;21453942;21474403;21570686;21623344;21663496;21697890;21703224;21712777;21717470;21747936;21797699;21800051;21835487;21840616;21883672;21900206;21930529;21931690;21982282;21988832;22016805;22135621;22138077;22183073;22295973;22309488;22324317;22374170;22403498;22406180;22425018;22433445;22440250;22452989;22456438;22456695;22461535;22531344;22540250;22552911;22623428;22633797;22658796;2272835;22738435;22769585;22805289;22815750;22831708;2283295;22870185;22878698;22924376;22939970;22985301;23041240;23114538;23123858;23138098;23168569;23198814;23270560;23274140;23289667;23289742;23312704;23349856;23398456;23402770;234399;23443559;23452328;2347082;23485345;23538348;23555584;23590659;23594745;23638175;23685023;23696640;23715962;23757192;23777413;23799006;23806041;23879397;23896219;23956138;23993260;24018802;24055685;24055728;24081251;2411938;24136020;24453292;24563159;24627726;24763232;24996234;2500435;25123009;2574721;2599878;2606724;2634665;2634669;2634670;2649166;2703370;270752;2752146;2831226;2869010;3026948;31339;3236367;3384694;3384699;3454663;3583765;3623974;3654264;3667323;3754245;3754246;3781866;3839772;3839774;3839775;3839776;3841101;3935608;3937825;3937826;3973024;3997545;4135409;4212045;4228361;4347947;4429670;4429803;4528583;4550395;4600474;4646552;4719146;4743350;4744335;478975;478976;478977;4824923;4834679;4961849;4971935;4982774;4986187;5033650;5081617;5085669;5085670;508945;5115619;5122655;5129592;5356548;5410724;5436649;5453914;5460202;5639009;5650416;5675638;5696551;5714528;5780195;5782115;5782754;5870555;5913291;5927878;5967288;5972865;5988206;6032878;6034517;6038433;604316;6082248;6089189;6153381;6188720;6244294;6297773;6308667;6317690;6403040;640841;640847;640856;6452630;6469696;6469697;6500991;6526652;6547117;6547932;6548207;6618889;6644819;6691995;6783600;6805217;6814490;6815131;6841125;6860428;6874376;6874377;6882779;6946451;7010180;701083;701092;7055587;7068437;7161109;7161110;7213661;7216818;7238857;7275660;7275663;7275668;7338471;7358733;7373648;7378457;7380113;7389895;7390865;7402334;740406;7448125;7448866;7470621;750553;7518430;7555018;7558876;7615398;7713747;7811728;8125298;8148419;8195004;8195005;822353;8294199;8294200;8448109;849454;852596;8537231;8537232;8537233;8706699;8745434;893128;893131;893135;901812;902765;9054936;9215129;9269086;9322075;949043;949045;9494044;9494049;9665850 3039 D1MGQ2;G3V1N2;P69905 ABBA01030387;AE006462;AF097635;AF105974;AF147332;AF281258;AF349571;AF351127;AF363956;AF525460;AF536204;AI064720;AK223392;AMYH02031181;AY178732;AY178733;AY183122;AY196787;AY261678;AY298911;AY605050;BC005931;BC008572;BC032122;BC050661;BC101846;BC101848;CH471112;DQ011235;DQ431198;DQ499018;GN367219;GU145033;HQ156224;J00153;J00157;M22813;M22814;NG_000006;NM_000558;V00491;V00492;V00493;Z84721 AAA52631;AAA52632;AAB59408;AAC72839;AAC97373;AAF90195;AAH05931;AAH08572;AAH32122;AAH50661;AAI01847;AAI01849;AAK15770;AAK37554;AAK50822;AAK61215;AAK61216;AAM83102;AAN04486;AAO22463;AAO22464;AAO24131;AAO42516;AAP44005;AAP56246;AAT36649;AAY30253;ABD95910;ABD95911;ABF56145;ABM85871;ABM87382;ACZ54507;ADV78002;BAD97112;CAA23750;CAA23751;CAA23752;CAB06555;CAY85981;EAW85863;NP_000549;P69905 Hs.449630;Hs.654744 1770984;1800742;1811708;1814766;1819724;1824800;1838874;2047654;2047656;2047658;2047660;2047668;2047670;2047672;2047674;2047676;2047678;2047680;2104466;2220254;5493409 ECD01232;ECD06858;ECD08414;ECD10932;ECD13499;ECD20616;HBA2;REN94963;REN94964;REN94965;REN94966;REN94970;REN94971;REN94972;REN94973;REN94974;REN94975;REN94976;RH71405;UniSTS:486125;stSG608924 CD31;HBA-T3;HBH;MGC126895;MGC126897 OTTHUMP00000066501;alpha one globin;alpha-1 globin;alpha-1-globin;alpha-2 globin chain;alpha-globin;delta globin;hemoglobin alpha 1 globin chain;hemoglobin alpha chain;hemoglobin alpha-1 chain;hemoglobin subunit alpha APPROVED protein-coding ENSG00000206172 HGNC:4823 00784 140700;141800;604131;613978 REVIEWED 1353990 HBD hemoglobin, delta The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 5372731 5374530 - 5254059 5255858 - 5232829 5234628 - 1580863;6480464;6907045;8699517;8554872 1148221;11860449;11939506;12402333;12477932;1257702;12736816;1301204;1309671;13892631;13968954;1398286;14236725;14478740;15108284;1515647;15234005;15449937;15489334;15757827;15921167;16370490;16370491;17145605;17207965;1742490;1787103;1802883;1802885;18221842;18603555;18615450;18932068;19609526;19657833;20183929;2018846;2066116;21194254;21832049;22477537;22641479;23215833;23263863;23443559;23806011;23872310;2477064;2578619;2578620;2581851;2649166;2869009;2933810;3267215;3382401;3401592;3455755;3620470;3841531;3857622;3879973;3879975;4625560;4850239;4852213;4995018;5678016;5824070;5909792;5956309;6086605;6095301;6155216;6165992;6184621;6194893;6194897;6210198;6264391;6270663;6272205;6280057;6292831;6292840;6297279;6303333;6311816;6324786;6327288;6330670;6397774;6457059;6469695;6548205;6629825;6629826;6652684;6701091;6714226;680638;6895866;6985475;6985477;6985481;7129931;7151176;7162987;728996;7438204;7555018;7713748;8118467;822353;8330984;8364213;8401543;8537235;873928;88735;9101295;952968 3045 A0N071;C9JRG0;E9PEW8;E9PFT6;P02042 ABBA01028649;AC104389;AF339401;AF339402;AF339403;AF339404;AF339405;AF339406;AF339407;AF339408;AF339409;AF339410;AF339411;AF339412;AF339413;AF339414;AF339415;AF339416;AF339417;AMYH02024255;AY034468;AY695366;BC069307;BC070282;BU664913;CH471064;DQ106871;DQ157442;EF051730;EF051731;EF058046;GU145032;GU145034;GU324923;NG_000007;NM_000519;U01317;V00505;V00506 AAA16333;AAH69307;AAH70282;AAK68847;AAL72102;AAL72103;AAL72104;AAL72105;AAL72106;AAL72107;AAL72108;AAL72109;AAL72110;AAL72111;AAL72112;AAL72113;AAL72114;AAL72115;AAL72116;AAL72117;AAL72118;AAU08171;AAZ16491;AAZ83699;ABK42072;ABK79071;ABK79072;ACZ54506;ACZ54508;ADL14494;ADQ32913;CAA23763;CAA23764;EAW68805;NP_000510;P02042 Hs.699280 1666134;1791544;1791922;1792468;1822976;1824020;1836004;2052440;2052442;2052444;2052446;2052448;2052450;2052452;2052454;2052456;2052458;2052460;2052462;2052464;2052466;2052468;2052470;2052472;2052474;2052476;2156003;2167412;5492541 D11F194S1E;ECD12576;ECD13106;ECD19163;PMC114582P1;PMC133721P1;PMC151694P1;REN97377;REN97378;REN97379;REN97380;REN97381;REN97382;REN97383;REN97384;REN97385;REN97386;REN97387;REN97388;REN97389;REN97390;REN97391;REN97392;REN97393;REN97394;REN97395;RH69634;RH71406;UniSTS:481587 OTTHUMP00000069639;delta globin;delta-globin chain;hemoglobin delta chain;hemoglobin subunit delta APPROVED protein-coding ENSG00000223609 HGNC:4829 00787 142000 REVIEWED 1312957 HBE1 hemoglobin, epsilon 1 The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq, Jul 2008] 11 11 11 p15.5 5408062 5409855 - 5289580 5291373 - 5268350 5270143 - 1580863;6480464;8699517 10381533;11132230;11304851;11494285;12477932;12659864;15108284;15114532;15157738;15449937;15489334;160554;16432873;16514181;16620781;17003365;17192395;17548470;18787944;18940720;19323016;19738201;20015891;20183929;20734064;20822527;20833979;21666788;21986214;22260787;22563848;22623428;22738610;23161390;23263863;23993951;24371119;2578619;2578620;2581851;2649166;2921315;2933810;3267215;3382401;3455755;3857622;3879973;3879975;6086605;6095301;6155216;6165992;6172865;6184621;6194893;6194897;6210198;6254663;6264391;6270663;6272205;6280057;6292831;6292840;6297279;6303333;6324786;6327288;6330670;6457059;6652684;6701091;6714226;6895866;6930885;6985475;6985477;6985481;7151176;7162987;7555018;822353;873928;88735;9220539;9665850 3046 A8MUF7;D9YZU7;P02100 ABBA01028649;AC104389;AMYH02024255;BC015537;CH471064;CR541912;GU324924;M25037;NG_000007;NM_005330;U01317;V00508 AAA16330;AAA35954;AAH15537;ABM85544;ABW03731;ADL14495;CAA23766;CAG46710;EAW68802;NP_005321;P02100 Hs.655195 1682986;1792204;1793040;1793704;1793706;1793708;1793710;1793712;1794490;1794904;1794992;1808248;1808446;1808448;1809840;1843824;2052728;2052730;2052732;2052734;2052736;2052738;2052740;2052742;2052744;2052746;2052748;2052750;2052752;2052754;2052756;2052758;2052760;2105534;2105536;2105538;5127070 D11S2383;ECD05105;ECD05205;ECD05206;ECD05912;ECD23123;PMC139749P4;PMC19271P1;PMC262396P5;PMC262396P6;PMC262396P7;PMC262396P8;PMC262396P9;PMC316536P3;PMC84149P2;PMC86936P3;REN97522;REN97523;REN97524;REN97525;REN97526;REN97527;REN97528;REN97529;REN97530;REN97531;REN97532;REN97533;REN97534;REN97535;REN97536;REN97537;REN97538;RH79666;stSG610852;stSG610853;stSG610854 HBE OTTHUMP00000069642;epsilon globin;epsilon-globin;hemoglobin epsilon chain;hemoglobin subunit epsilon APPROVED protein-coding ENSG00000213931 HGNC:4830 00788 142100 REVIEWED 1345458 HBG1 hemoglobin, gamma A The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 5388169 5389754 - 5269502 5271087 - 5248272 5249857 - 1600575;6480464;8699517;7240710;8554872 3033668 11172039;1138921;11514664;11960008;12093744;12393499;12393583;12477932;12488461;1283810;1342932;1374633;1379347;14645237;14649320;1487421;15108284;15489334;15613485;15666429;15831451;16631597;16849648;1698280;1703137;1704803;1714434;17212360;17353931;17612629;17916326;17976188;1802881;18096417;18347053;18615450;18718799;19220418;19327156;19712585;19738201;19861270;19958188;19958189;20183929;20439494;20584642;20602015;20676097;21144779;21832049;22010104;2224140;22273484;22469229;22623428;22689669;22739173;22825848;23071749;23263863;23425329;23777413;23824909;23993951;2411679;2412617;2413469;2417646;2417989;2419280;2420697;24223142;2423160;2441598;2442092;2448268;2448269;2452784;2454900;2467893;2469505;2578619;2578620;2581851;2581920;2649166;291015;2933810;3181130;318163;3267215;3377986;3382401;3455755;3857622;3879973;3879975;4455303;4676910;4765089;5491586;5554303;6019034;6038320;6086605;6091051;6095301;6155216;6163752;6165992;6175602;6183236;6184621;6186637;6188719;6194893;6194897;6197997;6198905;6199326;6210198;6264391;6270663;6272205;6280057;6292831;6292840;6297279;6303333;6324786;6327288;6330670;6457059;6652684;6701091;6714226;6895866;6985475;6985477;6985481;7151176;7162987;7332928;7438203;7555018;7928382;808940;8194849;822353;8566966;873928;881729;88735;9703422 3047 D9YZU8;P69891 ABBA01028649;AC104389;AF487523;AMYH02024255;AY534688;BC010913;BC010914;BC020719;CH471064;GU324925;J00176;M32249;M32724;M91036;M91037;NG_000007;NM_000559;U01317;V00512;V00513;V00514;X55655 AAA16332;AAA35953;AAA52637;AAA58493;AAA58609;AAB59429;AAH10913;AAH10914;AAH20719;AAL99545;AAS48085;ABM83591;ABM83727;ABM87047;ADL14496;CAA23770;CAA23771;CAA23772;CAA39188;EAW68804;NP_000550;P69891 Hs.702189 1668701;1813096;1813606;1814350;1814686;1821524;1843148;2052580;2052582;2052584;2052586;2052588;2052590;2052592;2052594;2052596;2052598;2052600;2052602;2052604;2052620;2052624;2105514;2105516;2105522;2117288 A008Q26;ECD07567;ECD07826;ECD08204;ECD08374;ECD11848;ECD22782;REN97447;REN97448;REN97449;REN97450;REN97451;REN97452;REN97453;REN97454;REN97455;REN97456;REN97457;REN97458;REN97459;REN97467;REN97469;RH11785;stSG610842;stSG610843;stSG610846 HBG-T2;HBGA;HBGR;HSGGL1;PRO2979 A-gamma globin;OTTHUMP00000069646;gamma A hemoglobin;gamma globin;gamma-1-globin;hb F Agamma;hemoglobin gamma-1 chain;hemoglobin gamma-a chain;hemoglobin subunit gamma-1;hemoglobin, gamma, regulator of APPROVED protein-coding HGNC:4831 00789 141749;142200 REVIEWED 1605733 HBEGF heparin-binding EGF-like growth factor ENCODES a protein that exhibits growth factor activity; heparin binding; INVOLVED IN epidermal growth factor receptor signaling pathway; positive regulation of cell migration; positive regulation of protein kinase B signaling; PARTICIPATES IN epidermal growth factor/neuregulin signaling pathway; gonadotropin-releasing hormone signaling pathway; ASSOCIATED WITH Abnormality of metabolism/homeostasis (inferred); Autosomal dominant inheritance (inferred); FOUND IN cell surface; extracellular space; integral component of plasma membrane (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-nitropyrene; 2,3,7,8-tetrachlorodibenzodioxine 5 5 5 q23 135789059 135802819 - 139712428 139726188 - 140332843 140346603 - 2317963;1581908;6480464;6484113;6907045;8699517 15486316;15982853 10576204;10749879;11125426;11340068;11432822;11735113;11761337;11769972;11825873;11846885;11920609;11922634;11943653;11983897;12070119;12095415;12099696;12112577;12149405;12163414;12230876;12466384;12477932;12568494;12612909;12725245;12743035;12768307;12835543;12882762;12952982;12958167;14573593;14597771;14634113;14738873;14764442;15062539;15169883;15219838;15274392;15289334;15331606;15372022;15389565;15489334;15509542;1556128;15562026;15755902;1577791;15827558;15979989;15988409;16034135;16407398;16470170;16557002;16687414;16837648;16901467;16923819;16996055;17001310;17392284;17472728;17525275;17548351;17637826;17654528;17655843;17668298;17717322;17855771;17928891;17960400;17962208;18093224;1840698;18463770;18686008;18691754;18725202;18852147;18925469;18929421;19064678;19127210;19218109;19337254;19389413;1939101;19559571;19609315;19671876;19682489;19913121;19919524;19961362;19996587;20130271;20131286;20332144;20351696;20424473;20586269;20628086;20739660;20847549;20856931;20889674;20946474;21386996;21413023;21640162;21788507;22009535;22110740;22136955;22209887;22291012;22319602;22402363;22592159;22646534;22718294;23146907;23277101;23349913;23376846;23443317;23589494;23597914;23598347;23787814;23907942;23917679;24013225;24038577;24043629;24116709;24346967;3436221;7532176;7590736;7836353;8051092;8060360;8125298;8194524;8300582;8347598;9135143;9659904 1839 Q99075;Q9UMJ6 ABBA01026434;AC004634;AK222688;AK307310;AK313202;AMYH02012330;AY164533;BC033097;CH471062;D55114;GM880654;L17030;L17031;M60278;NM_001945 AAA35956;AAA50563;AAA50564;AAC15470;AAH33097;AAN46738;ACE87056;ACE87738;BAD96408;BAG36018;CAV28318;EAW62069;NP_001936;Q99075 Hs.592942;Hs.799 1669703;1683100;1772563;1795706;2154640;2158676 D5S2374;DTR_582;G10624;RH65265;RH93352;STS-M60278 DTR;DTS;DTSF;HEGFL OTTHUMP00000159876;OTTHUMP00000223860;diphtheria toxin receptor (heparin-binding EGF-like growth factor);diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor);heparin-binding epidermal growth factor;proheparin-binding EGF-like growth factor protein-coding ENSG00000113070 HGNC:3059 00526 126150 VALIDATED 1348198 HBM hemoglobin, mu The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 419287 420082 + 215973 216767 + 165974 166768 + 6480464 12477932;15855277;19199228;2649166;2825132;3952001 3042 Q6B0K9 ABBA01030387;AMYH02031180;AY698022;BC035682;BC067870;DQ431198;NG_000006;NM_001003938;X03583;Z84721 AAH35682;AAT92513;ABD95909;NP_001003938;Q6B0K9 Hs.647389 1804776;1805588;1818654;1822972;1828316;2047604;2047606;2047608;2047610;2047612;2047614;2047616;2047618;2047620;2104454 ECD03321;ECD03744;ECD10391;ECD12574;ECD15283;REN94938;REN94939;REN94940;REN94941;REN94942;REN94943;REN94944;REN94945;REN94946;stSG608915 HBAP2;HBK OTTHUMP00000066292;alpha globin pseudogene 2;hemoglobin mu chain;hemoglobin subunit mu;hemoglobin, alpha pseudogene 2;mu-globin APPROVED protein-coding ENSG00000206177 HGNC:4826 13633 609639 REVIEWED 737064 HBA2 hemoglobin, alpha 2 The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 426165 427036 + 222846 223709 + 172847 173710 + 1599361;6480464;6907045;7240710;8554872;8699517 6490612 10081983;10390349;10569723;10569726;1062801;10722113;10870886;10910890;10930828;11154980;1115799;11186260;11186265;11186266;11186269;11307949;11410421;1155453;11570724;11791870;11791875;11836160;11939521;11939522;12072504;12122004;12144061;12144065;12192002;12360531;12477932;12484634;12484636;12603093;12603094;12603095;12659864;12665801;12673836;1268216;12730694;12779272;12779273;12779274;12779276;13856;13999302;14204459;14649316;14649319;1487423;15008265;1512262;15128423;1517104;15174051;15365991;15449937;15481883;15481888;15481894;15481895;1549498;15550245;15658192;15768558;1581238;15813858;16103716;16169070;1634363;16418531;16436049;16798639;16847316;17192395;1726096;17486499;17512924;17587614;17589844;17715390;17916326;17920577;17996867;18026953;18591626;18768527;19048483;19205971;19245215;19479992;19657833;19738201;19740759;1975428;19794088;19843387;1988759;19912309;19946888;19958194;19958200;20036801;20054848;20139978;20301608;20580289;20639625;20642333;20682466;20691621;2079431;20854119;2101836;2101838;21077767;21093326;21222374;21453942;21468611;21565611;21703224;21797699;21797701;21800051;21821711;21967524;22038702;22056776;22183073;22374170;22391447;22563848;22623428;22638758;2265255;22738435;22779921;22924376;22943743;23094635;23123858;23138098;23181747;23349856;23356414;23368878;23390935;23402770;23517369;23590659;23614625;23672273;2372512;23797957;2384313;24081251;24100324;24452365;2606724;2649166;2752146;3177365;3191134;3384700;3597771;3620699;4135409;4212045;4422784;4550395;478977;486536;4944483;5577460;5587575;5639009;5794113;6244294;6297773;6308667;6317690;6452630;6469697;6505702;6547932;6644819;6646217;6671902;6726807;6985477;6994493;7010180;7070526;7402334;7407925;7518430;7555018;7558871;7615398;7928378;8193381;8195005;8195006;822353;8294199;8635221;8706699;8756078;8943885;8980683;909779;9175734;9255611;9441940;9629496;9665850;9830011;9886305;9895333 3040 D1MGQ2;G3V1N2;P69905 ABBA01030387;AF097635;AF105974;AF147332;AF230076;AF281258;AF349571;AK223392;AMYH02031181;BC005931;BC008572;BC032122;BC050661;BC101846;BC101848;DQ499017;J00153;NG_000006;NM_000517;V00488;V00489;V00493;V00516;Z84721 AAB59407;AAC72839;AAC97373;AAF72612;AAF90195;AAH05931;AAH08572;AAH32122;AAH50661;AAI01847;AAI01849;AAK37554;ABF56144;ABM82687;ABM84035;BAD97112;CAA23748;CAA23749;CAA23752;CAA23774;CAB06554;NP_000508;P69905 Hs.449630;Hs.654744 1770984;1800742;1811708;1821452;1824800;1838874;2047654;2047656;2047658;2047660;2047678;2047680;2220254;5493409 ECD01232;ECD06858;ECD11810;ECD13499;ECD20616;HBA2;REN94963;REN94964;REN94965;REN94966;REN94975;REN94976;RH71405;UniSTS:486125 HBA-T2;HBH OTTHUMP00000066291;alpha globin;alpha-2 globin;alpha-globin;hemoglobin alpha chain;hemoglobin subunit alpha;hemoglobin, alpha 1 APPROVED protein-coding ENSG00000188536 HGNC:4824 00785 140700;141850;604131;613978 REVIEWED 733921 HBP1 HMG-box transcription factor 1 ENCODES a protein that exhibits DNA binding (inferred); RNA binding (inferred); INVOLVED IN positive regulation of potassium ion transport (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (+)-catechin; (-)-demecolcine; 17beta-estradiol 7 7 7 q22-q31 101614757 101648271 + 106809406 106842974 + 107168961 107202529 + 6480464;8554872 10562551;10958660;11486012;11500377;12477932;12853948;14702039;14872137;15024088;15231748;15235594;15489334;16179914;16210625;16495219;16713569;16966377;17092945;17616670;18255255;18654987;20008325;20211142;20383199;20505989;20581871;21890473;21963094;21967847;21988832;22586168;23249948;23613959;24250222;24762137;9030690;9178770 26959 B4DJ36;C9J5U3;C9J8V6;C9JAW1;C9JPK6;C9JQU7;H7C4S2;H7C574;O60381;U3KQE5 ABBA01057912;AC004492;AF019214;AF182038;AK025284;AK074353;AK122785;AK295910;AK298504;AMYH02016509;BC017069;BC022329;CH236947;CH471070;NM_001244262;NM_012257;XM_005250266;XM_005250267 AAB71862;AAC08317;AAD56225;AAH17069;AAH22329;ABM82502;BAB85059;BAG53729;BAG58698;BAG60711;EAW83392;EAW83393;EAW83394;NP_001231191;NP_036389;O60381;XP_005250323;XP_005250324 Hs.162032 1655594;1771215;1771816;1772546;1789336;1855666;1856015;2120692;2132223;2142198;2160212;2174845;2189511 A004F09;D7S1412;D7S2108E;D7S2333;G67890;G73140;RH12237;RH16458;RH46323;SGC34252;SGC44497;STS-N63962;WI-17975 FLJ16340 HMG box transcription factor 1;HMG box-containing protein 1;OTTHUMP00000212317;OTTHUMP00000212318;OTTHUMP00000212319;OTTHUMP00000212325;high mobility group box transcription factor 1 protein-coding ENSG00000105856 HGNC:23200 13634 VALIDATED 736606 HBB hemoglobin, beta The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 5365367 5366972 - 5246696 5248301 - 5225466 5227071 - 1600891;1600894;704404;1600888;1600886;1600889;1600890;1600893;1600895;1600892;1600896;6480464;6907045;7240710;8554872;8699517 10870887;11001883;1272328;1520632;2239966;2599881;4719677;6280057;6304979;6457059 1019344;10233364;10390349;10398311;10588683;10666717;10791557;10856700;10930828;10954746;11043018;11076863;11111119;11132230;11132233;1115799;11163187;11186256;11300344;11300346;11300351;1138922;11480785;11486027;11499613;11570721;11582643;11741197;11747442;1177322;11778661;11782463;11800015;11804203;11804364;11812133;11822023;11823440;11827978;11833853;11843288;11843884;11857746;11860449;11869935;11877258;11890201;11909945;11920200;11939508;11939509;11939510;11939511;11939512;11939513;11939514;11939515;11939518;11939519;11939520;1195378;11965279;11971871;11997516;11999355;12034837;12054662;12082507;12122004;12144057;12144064;12217699;12217813;12242335;12360531;12394345;12419253;12454462;1247583;12477932;12555809;12581187;12581188;12603091;12629213;12709368;12709369;12736816;12799453;12846902;12865230;12908805;12920025;12941700;12955718;13872627;13897827;14529320;14555305;14585970;14587041;14627823;14642006;14645507;14649314;14649315;14649317;14649318;14649320;14722738;14738432;1487420;15060158;1507231;15073633;15084587;15108284;1511986;1512262;15147217;15153712;1517102;15198986;15256071;15307413;15315795;15327529;15385559;1540659;15476181;15481884;15481886;15481897;15482674;15489334;15489336;15528150;1552945;15538648;15555579;15565158;15565159;15591902;15599663;15607699;15609277;15615768;15658186;1567857;15692663;15713129;15727248;15727901;15741796;15767753;15780970;15793780;15795541;15795925;15839736;15858131;15870261;15882059;15885239;15910003;15921164;15948210;15956966;15973412;15979088;1602151;16027165;16085752;16103715;16132905;16156863;16156939;16169070;16175509;16184579;16196087;16199858;16227618;16254903;1634367;16356170;16381901;16418531;16466947;16470532;16480967;16508016;16537808;16637741;16722361;16798637;16848606;16855288;16858401;16859949;16877501;16885058;16898315;16916647;16943425;16956833;16990440;17056066;17095853;17096035;17133428;17135308;17140342;17158930;17160997;17196618;17301974;17339197;17394396;17445142;17486493;17486497;17490901;17508724;17516066;17519411;17564253;17565724;17612748;17637845;17654071;17654072;17654503;17665502;17688704;17720709;17724704;1787097;17881306;17894837;17916326;17918249;17920577;17925082;17961316;18022136;18026953;18056715;18071703;18080800;18081706;18096416;1814856;18235968;18245381;18257074;18266765;18291005;18294253;18308336;18339318;18369441;18381244;18391696;18392554;18392622;18414926;18419131;18428016;18443145;18447585;18458302;18461170;18465053;18473240;18473247;18473248;18473944;18498386;18586828;18603555;18654885;18654889;18667698;18694524;18728021;18752444;18759082;18772456;18928603;18932071;18951049;18974585;19055866;19056867;19065337;19066892;19087310;19122960;19127788;19149873;1917530;1917537;1917539;19205970;19205975;19205976;19205978;19215610;19230568;19245215;19247486;19254853;19269866;19288145;19290524;19317913;19320245;19333781;19346882;19359777;19372376;19373584;19373586;19397368;19465909;19474452;19479992;19488752;19503809;19533614;19556751;19609526;19615732;19618018;19657833;19740759;19775947;19843387;19903589;19913121;19954365;19958184;19958185;19958186;19958187;19958196;19958198;19958201;20036801;20068219;20080971;20099768;20113286;20113295;20113296;20181291;20193381;20230396;20231425;20301551;20301599;20301608;20305663;20336466;20353347;20353350;20353351;20353353;20353593;20395516;20406103;20524821;20552021;20557680;20598923;20628086;20628988;20642332;20676097;20739079;2079435;20798489;20830473;20836851;20938172;20943106;2101840;21034280;21068433;21075280;21075281;21075288;21077758;21077760;21086180;21129264;21139048;21145460;21173165;21194254;21194265;21219849;21232998;21250885;21319273;21333566;21378272;21389146;21523319;21703224;21757944;21797700;21797702;21797703;21800051;21801233;21816820;21828133;21881051;21931690;21947948;21978377;22028795;22036762;22075726;22117603;22164220;22178075;22183073;22216176;22217259;22260316;22273838;22289203;22291609;22323332;22324317;22524255;22563936;22565177;22625666;22654577;22672614;22675570;22705794;22734501;22734587;22738610;22862814;22895189;22898041;22939629;22943051;22981786;23043469;23085440;23089702;23101664;23215760;23235792;23263863;23272095;23281611;23349856;23361909;23398055;23398456;23425204;23437895;23443559;23457306;23470150;23500448;23577918;23586372;23600595;23638175;23671278;23717212;23826747;2384314;23915319;23952145;2399911;24080366;24080465;24086375;24182909;24878022;25123009;2513289;2578619;2578620;2581851;2599880;2634671;2649166;271989;2921315;2933810;3267215;3382401;3384707;3384708;3384709;3384710;3455755;3557994;3620470;3623975;3654265;3666141;3691763;3707969;3718478;3744871;3754244;3838976;3857622;3879973;3879975;3937824;4053691;4123689;4129558;429365;4531009;4639022;4850241;4852224;6086605;6095301;6155216;6165992;6166590;6184621;6194893;6194897;6210198;6254664;6264391;6270663;6272205;6292831;6292840;6297279;6303333;6324786;6327288;6330670;635569;6434492;6526653;6587773;6618888;6629822;6629823;6629824;6644819;6652684;6687721;668922;6701091;6714226;6726807;67897;6857757;68958;6895866;6985475;6985477;6985481;7151176;7161106;7162987;7173395;721609;7238856;728996;7338468;7338469;7358733;7373648;7378053;7555018;7693620;7907422;7965120;8144352;822353;826083;8292032;8330972;8330974;8330979;8522332;8602627;8641705;8642597;8718692;8718696;873928;8745430;8811317;88735;891976;893142;8980683;9006104;9441940;9521756;9761252;9830011;9843411;992050 3043 D9YZU5;F8W6P5;P68871 A01592;ABBA01028649;AC104389;AF007546;AF059180;AF083883;AF104901;AF105973;AF117710;AF181832;AF181989;AF186606;AF186607;AF186608;AF186609;AF186610;AF186611;AF186612;AF186613;AF186614;AF186615;AF186616;AF186617;AF186618;AF186619;AF186620;AF305829;AF319479;AF348448;AF349114;AF527577;AF540397;AJ871593;AJ877913;AK311825;AMYH02024255;AY013299;AY013301;AY013302;AY027509;AY027800;AY136510;AY136511;AY163866;AY260740;AY261679;AY264346;AY310318;AY341055;AY341056;AY356351;AY509193;AY605051;AY605052;AY738615;AY744274;AY998983;BC007075;CH471064;CR536530;CR541913;DQ026227;DQ029041;DQ074764;DQ118155;DQ126270;DQ126271;DQ126272;DQ126273;DQ126274;DQ126275;DQ126276;DQ126277;DQ126278;DQ126279;DQ126280;DQ126281;DQ126282;DQ126283;DQ126284;DQ126285;DQ126286;DQ126287;DQ126288;DQ126289;DQ126290;DQ126291;DQ126292;DQ126293;DQ126294;DQ126295;DQ126296;DQ126297;DQ126298;DQ126299;DQ126300;DQ126301;DQ126302;DQ126303;DQ126304;DQ126305;DQ126306;DQ126307;DQ126308;DQ126309;DQ126310;DQ126311;DQ126312;DQ126313;DQ126314;DQ126315;DQ126316;DQ126317;DQ126318;DQ126319;DQ126320;DQ126321;DQ126322;DQ126323;DQ126324;DQ126325;DQ150585;DQ192018;DQ659148;EF450778;EU694432;EU760912;EU760913;EU760915;EU760916;EU760918;EU760919;EU760920;EU760922;EU760923;EU760924;EU760925;EU760926;EU760928;EU760929;EU760930;EU760931;EU760932;EU760933;EU760935;EU760936;EU760940;EU760941;EU760942;EU760943;EU760944;EU760945;EU760946;EU760947;EU760948;EU760949;EU760952;EU760954;EU760955;EU760957;EU760958;EU760960;GN041478;GN045279;GN367221;GU324922;JB252422;K01899;L26462;L26463;L26464;L26465;L26466;L26467;L26468;L26469;L26470;L26471;L26472;L26473;L26474;L26475;L26476;L26477;L26478;L48213;L48214;L48215;L48216;L48217;L48220;L48931;L48932;M11428;M25079;M25113;M25660;M34059;M36640;NG_000007;NM_000518;S82767;U01317;U20223;V00497;V00498;V00499;V00500 AAA16334;AAA16335;AAA21100;AAA21101;AAA21102;AAA21103;AAA21104;AAA21105;AAA21106;AAA21107;AAA21108;AAA21109;AAA21110;AAA21111;AAA21112;AAA21113;AAA21114;AAA21115;AAA21116;AAA35597;AAA35952;AAA35966;AAA52633;AAA52634;AAA52635;AAA53153;AAA88054;AAA88057;AAA88059;AAA88061;AAA88063;AAA88065;AAA88067;AAA99224;AAB60348;AAB62944;AAC97372;AAC97959;AAD14420;AAD19696;AAD30656;AAF00488;AAF00489;AAF08258;AAF08259;AAF08260;AAF08261;AAF08262;AAF08263;AAF08264;AAF08265;AAF08266;AAF08267;AAF08268;AAF08269;AAF08270;AAF08271;AAF08272;AAG28779;AAG46182;AAG46184;AAG46185;AAH07075;AAK15811;AAK20080;AAK28066;AAK29639;AAK30154;AAL68978;AAM92001;AAN11320;AAN11321;AAN16468;AAN84548;AAP03091;AAP21062;AAP44006;AAP74754;AAQ24847;AAQ24848;AAQ63175;AAR96398;AAT36650;AAT36651;AAU85261;AAW66689;AAY15222;AAY46275;AAY51976;AAY84735;AAZ30391;AAZ39745;AAZ39746;AAZ39747;AAZ39748;AAZ39749;AAZ39750;AAZ39751;AAZ39752;AAZ39753;AAZ39754;AAZ39755;AAZ39756;AAZ39757;AAZ39758;AAZ39759;AAZ39760;AAZ39761;AAZ39762;AAZ39763;AAZ39764;AAZ39765;AAZ39766;AAZ39767;AAZ39768;AAZ39769;AAZ39770;AAZ39771;AAZ39772;AAZ39773;AAZ39774;AAZ39775;AAZ39776;AAZ39777;AAZ39778;AAZ39779;AAZ39780;AAZ39781;AAZ39782;AAZ39783;AAZ39784;AAZ39785;AAZ39786;AAZ39787;AAZ39788;AAZ39789;AAZ39790;AAZ39791;AAZ39792;AAZ39793;AAZ39794;AAZ39795;AAZ39796;AAZ39797;AAZ39798;AAZ39799;AAZ39800;AAZ81986;ABA19233;ABG47031;ABM84085;ABM87452;ABO36678;ABW03575;ACD39349;ACF16747;ACF16748;ACF16750;ACF16751;ACF16753;ACF16754;ACF16755;ACF16757;ACF16758;ACF16759;ACF16760;ACF16761;ACF16763;ACF16764;ACF16765;ACF16766;ACF16767;ACF16768;ACF16770;ACF16771;ACF16775;ACF16776;ACF16777;ACF16778;ACF16779;ACF16780;ACF16781;ACF16782;ACF16783;ACF16784;ACF16787;ACF16789;ACF16790;ACF16792;ACF16793;ACF16795;ADL14493;BAG34767;CAA00182;CAA23756;CAA23757;CAA23758;CAA23759;CAG38767;CAG46711;CAI40296;CAI47563;CAL37415;CAL38229;CAX48890;CAX48956;CAY85982;CDH61667;EAW68806;NP_000509;P68871 Hs.523443 1731969;1740969;1741031;1741079;1741083;1741223;1741633;1742421;1743121;1745285;1745715;1791304;1791314;1791336;1791438;1791450;1791454;1791500;1791514;1791544;1791582;1791700;1791810;1791922;1791934;1791964;1792208;1792374;1792380;1792554;1793662;1793982;1794494;1794952;1794954;1794956;1794958;1794994;1795014;1795020;1795032;1795142;1803314;1806516;1809252;1830572;1847705;2052374;2052376;2052378;2052380;2052382;2052384;2052386;2052388;2052390;2052392;2052394;2052396;2052398;2052400;2052402;2052404;2052406;2052456;2105482;2105484;2142128;2156003;2167412;2190817;5094830 D11F194S1E;D11S1382;ECD02553;ECD04215;ECD05616;ECD16422;GDB:177071;GDB:177422;GDB:177671;GDB:177704;GDB:178694;GDB:181599;GDB:196974;GDB:269987;GDB:599270;GDB:632696;HBB;Hbb-b1;PMC102046P2;PMC102168P1;PMC104188P1;PMC110379P1;PMC110716P1;PMC110756P1;PMC111966P1;PMC113011P1;PMC114582P1;PMC115301P1;PMC120089P1;PMC126094P1;PMC133721P1;PMC133732P7;PMC133948P1;PMC139788P3;PMC149569P1;PMC150227P2;PMC153763P1;PMC24545P1;PMC310725P2;PMC316536P5;PMC86017P3;PMC86017P4;PMC86017P6;PMC86017P7;PMC86936P4;PMC87307P1;PMC87731P1;PMC88635P1;PMC99844P2;REN97344;REN97345;REN97346;REN97347;REN97348;REN97349;REN97350;REN97351;REN97352;REN97353;REN97354;REN97355;REN97356;REN97357;REN97358;REN97359;REN97360;REN97385;RH41842;RH69634;STS-L48931;stSG610823;stSG610824 CD113t-C;beta-globin OTTHUMP00000069644;beta globin chain;hemoglobin beta chain;hemoglobin beta chain complex;hemoglobin subunit beta 2314986 INSUL33_H APPROVED protein-coding ENSG00000244734 HGNC:4827 00786 140700;141749;141900;603902;603903;611162;613985 REVIEWED 1313995 HBQ1 hemoglobin, theta 1 Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 429850 430693 + 230333 231178 + 180334 181179 + 1580863;6480464;8699517 11157797;12477932;15489334;16138310;16728641;21453942;2569721;2649166;2921315;3408475;3422341;7555018 3049 P09105 ABBA01030387;AE006462;AMYH02031181;BC056686;CH471112;DQ431198;M33022;M91453;NG_000006;NM_005331;X06482;Z84721 AAA52640;AAA58362;AAH56686;AAK61217;ABD95912;CAA29776;EAW85861;NP_005322;P09105 Hs.247921 1829944;1834492;2047688;2047690;2047692;2047694;2047696;2047698;2047700;2047702;2047704;2047706;2047708;2047710;2047712;2104470;2154008 ECD16105;ECD18394;REN94980;REN94981;REN94982;REN94983;REN94984;REN94985;REN94986;REN94987;REN94988;REN94989;REN94990;REN94991;REN94992;RH70814;stSG608927 HBQ OTTHUMP00000067158;hemoglobin subunit theta-1;hemoglobin theta-1 chain;theta-1-globin APPROVED protein-coding ENSG00000086506 HGNC:4833 00791 142240 REVIEWED 1316709 HBZ hemoglobin, zeta Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. [provided by RefSeq, Nov 2009] 16 16 16 p13.3 404501 406151 + 192921 204504 + 142922 154505 + 1580863;6480464;8699517 10381533;11157797;11159543;11494285;11747442;12477932;15231747;15489334;1549498;15555579;15755797;16169070;18078517;19738201;20098747;20301608;21832049;22623428;2411938;24751163;2649166;4135409;6089189;6171809;6172357;6179844;6297773;6308667;6963223;7402334;7555018;822353;9054936 3050 P02008;Q1W6G9 ABBA01030388;ABBA01030389;AE006462;AMYH02031178;AMYH02031179;BC027892;CH471112;CR456848;DQ431198;J00182;M24173;NG_000006;NM_005332;XM_005255287;XM_005255288;Z84721 AAA61306;AAB59406;AAH27892;AAK61214;ABD95908;ABM85006;ABW03672;CAB06552;CAG33129;EAW85864;NP_005323;P02008;XP_005255344;XP_005255345 Hs.585357 1804568;1804776;1805588;1823254;2047528;2047530;2047532;2047534;2047536;2047538;2047540;2047542;2047544;2047546;2104450 ECD03215;ECD03321;ECD03744;ECD12716;REN94896;REN94897;REN94898;REN94899;REN94900;REN94901;REN94902;REN94903;REN94904;REN94905;stSG608905 HBAZ;HBZ-T1;HBZ1 OTTHUMP00000066293;hemoglobin subunit zeta;hemoglobin zeta chain;zeta-globin APPROVED protein-coding HGNC:4835 00794 142310 REVIEWED 1351638 HBG2 hemoglobin, gamma G The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 5393093 5394640 - 5274421 5276011 - 5253191 5254781 - 1600594;1600598;6480464;8699517;7240710;8554872 2432426;7741137 10335983;10722114;10722115;10722116;11132233;11172039;1127124;11514664;11791877;11827978;12477932;12488461;12543931;14087393;14649320;15108284;15231748;15476181;15489334;15645283;15798211;16370494;16956833;1698280;1703138;1703139;1706691;1714434;1726095;17365007;17916326;18096417;18266208;18443038;18467329;18667698;18932071;18951049;19050890;19738201;19861239;19892574;19958193;20113294;20183929;20439494;20472475;20602015;20688955;21123872;21561349;21609963;21755589;21832049;21988832;22623428;22825848;22871617;23284307;23713742;23777413;2413469;2416635;2420748;2435680;2441598;2442122;2442123;2459082;2459083;2470017;2483933;25123009;2578619;2578620;2579547;2581851;2581919;2649166;2933810;3120456;3267215;3382401;3455755;3857622;3879973;3879975;4403130;4429671;4837284;4846278;5554303;5792729;6086605;6091051;6095301;6155216;6158500;6165992;6172403;6184621;6186522;6186635;6186636;6192110;6194893;6194897;6206897;6208955;6210198;6264391;6270663;6272205;6280057;6292831;6292840;6297279;6303333;6324786;6327288;6330670;6457059;6652684;6701091;6714226;6814491;6895866;6985475;6985477;6985481;7151176;7162987;7250702;7332928;7438203;7558873;7687241;7687855;7713741;8144355;822353;836882;8566966;8718700;8718701;873928;881729;88735 3048 D9YZU9;E9PBW4;P69892 ABBA01028649;AC104389;AF110493;AK290492;AMYH02024255;AY662983;BC029387;BC130457;BC130459;FJ948815;GU324926;M11427;M15386;M32250;M32723;M91036;M91037;NG_000007;NM_000184;U01317;V00515;X06490;X55656;X55657 AAA16331;AAA35955;AAA35957;AAA58492;AAA58610;AAB50159;AAB59428;AAD19655;AAH29387;AAI30458;AAI30460;AAT98611;ABM86835;ADB93137;ADL14497;BAF83181;CAA23773;CAA39189;CAA39190;CAB58151;NP_000175;P69892 Hs.302145 1668701;1813096;1813606;1814350;1814478;1817156;1842518;1844864;2052586;2052590;2052616;2052618;2052620;2052622;2052624;2052626;2052628;2052630;2052632;2052634;2052636;2052638;2105522;2105524 ECD07567;ECD07826;ECD08204;ECD08269;ECD09628;ECD22466;ECD23648;REN97450;REN97452;REN97465;REN97466;REN97467;REN97468;REN97469;REN97470;REN97471;REN97472;REN97473;REN97474;REN97475;REN97476;RH11785;stSG610846;stSG610847 FLJ76540;HBG-T1;TNCY G-gamma globin Paulinia;OTTHUMP00000069638;abnormal hemoglobin;gamma-2-globin;hb F Ggamma;hemoglobin gamma-2 chain;hemoglobin gamma-G chain;hemoglobin subunit gamma-2;methemoglobin APPROVED protein-coding ENSG00000196565 HGNC:4832 00792 141749;142250;613977 REVIEWED 1353128 HBZP1 hemoglobin, zeta pseudogene 1 16 16 p13.3 213066 215204 + 163067 165205 + 2649166;2825132;6297773;6308667;6745241 3051 ABBA01030388;AMYH02031179;AMYH02031180;J00184;NG_000006;Z84721 1804776;1805588;1813388;1828316;1837456;2047586;2047588;2047590;2047592;2047594;2047596;2047598;2047600;2047602;2047604;2047606 ECD03321;ECD03744;ECD07715;ECD15283;ECD19895;REN94927;REN94928;REN94929;REN94930;REN94931;REN94932;REN94933;REN94934;REN94935;REN94938;REN94939 HBZ-T2;HBZ2;HBZ2P;HBZP APPROVED pseudo HGNC:4836 VALIDATED 1318318 HBS1L HBS1-like translational GTPase This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009] 6 6 6 q23.3 136021872 136116411 - 135281516 135376036 - 134960378 135054898 - 1580863;6480464;6907045;8554872 10470851;12417652;12477932;14574404;14702039;15489334;16344560;17592125;17712044;18667698;18839276;19056867;19148297;19696200;19820697;19853236;19862010;19946888;20139978;20183929;20418951;20472475;20531386;20927387;21068433;21139048;21145461;21385855;21448132;21738478;21832049;21890473;21906983;21963094;21988832;22053931;22139419;22423221;22505724;22863883;22936743;22939629;23000965;23043469;23222517;23263863;23503679;23602568;23667253;23935956;24026423;24097068;24149102;24250222;24614105;9872408 10767 B7Z1K2;B7Z524;D9YZV0;E9PHZ9;E9PJ90;E9PLR4;E9PMN1;E9PN23;E9PS53;G5E991;H0YD85;H0YDX7;H0YES5;J3QT46;Q9Y450 AB028961;ABBA01025845;ABBA01025846;AF161394;AJ420551;AJ459826;AJ459827;AK024258;AK293573;AK295545;AK298336;AL137664;AL353596;AL445190;AMYH02014542;BC001465;BC040849;BX648033;CH471051;DB051030;GU324927;NG_012002;NM_001145158;NM_001145207;NM_006620;U87791;XM_006715320;XR_245499 AAD00645;AAF28954;AAH01465;AAH40849;ACE86736;ACE87422;ADL14498;BAA82990;BAG51281;BAH11538;BAH12101;BAH12760;CAB70865;CAD30873;CAD30874;EAW47980;EAW47981;EAW47982;EAW47983;EAW47984;NP_001138630;NP_001138679;NP_006611;Q9Y450;XP_006715383 Hs.378532 1659634;1711044;1727941;1792318;1792320;1852697;5118576;5491782 D11S3430;G63389;HBS1L;HSC20G062;PMC140821P2;PMC140821P3;RH46724;SHGC-86149 DKFZp686L13262;EF-1a;ERFS;HBS1;HSPC276;eRF3c ERF3-similar protein;HBS1-like protein;Hsp70 subfamily B suppressor 1-like protein;OTTHUMP00000017252;OTTHUMP00000017253;OTTHUMP00000017254;OTTHUMP00000017255;OTTHUMP00000234184;OTTHUMP00000234185;OTTHUMP00000234186;OTTHUMP00000234187;OTTHUMP00000234192;eRF3 family member APPROVED protein-coding ENSG00000112339 HGNC:4834 06582 612450 REVIEWED 1348987 HCAR3 hydroxycarboxylic acid receptor 3 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3',5'-cyclic AMP 12 12 12 q24.31 122778682 122780822 - 123199303 123201439 - 122714756 122716892 - 1580863;6480464;8554872 12090300;12477932;12522134;12563315;12646212;15489334;16344560;17562024;18983141;19237584;19460752;19502010;19561068;19633298;19913121;20380810;20628086;21454438;21655214;22289163;7505609;9205127 8843 P49019 AB065865;ABBA01060453;AC026333;AK290930;AK313212;AMYH02027435;BC038955;BC047891;BI908162;CB529340;CD366840;CH471054;CU451507;D10923;DA948030;DA953971;EU293604;NM_006018;R02740 AAH47891;ABX64359;BAA01721;BAC06083;BAF83619;BAG36027;EAW98335;EAW98336;NP_006009;P49019 Hs.458425 1778386;2106773;2108119;2152884 D12S2030;GC10S02;GPR109B_8864;RH17364 GPR109B;HCA3;HM74;Puma-g G protein-coupled receptor 109B;G-protein coupled receptor 109B;G-protein coupled receptor HM74;G-protein coupled receptor HM74B;GTP-binding protein;OTTHUMP00000231762;PUMAG;hydroxy-carboxylic acid receptor 3;niacin receptor 2;nicotinic acid receptor 2;putative chemokine receptor APPROVED protein-coding ENSG00000255398 HGNC:16824 06917 606039 VALIDATED 7244818 HCCAT5 hepatocellular carcinoma associated transcript 5 (non-protein coding) 16 16 16 q22.3 57440789 57442214 + 73126248 73127673 + 73092349 73093774 + 12477932;20130911;23314567 283902 ABBA01016811;AC116667;AMYH02032354;BC019009;CH471166;FJ222407;FJ222408;HG508265;NR_027756 ACI46634;ACI46635;EAW59167 Hs.382776 FJ222407;HTA;RP11-346C20.2 ncrna ENSG00000260880 HGNC:48612 615613 VALIDATED 1352808 HCAR2 hydroxycarboxylic acid receptor 2 ENCODES a protein that exhibits nicotinic acid receptor activity (ortholog); INVOLVED IN neutrophil apoptotic process; positive regulation of neutrophil apoptotic process; negative regulation of lipid catabolic process (ortholog); FOUND IN plasma membrane; INTERACTS WITH 3',5'-cyclic AMP; 3-hydroxybutyric acid; bradykinin 12 12 12 q24.31 122792105 122794164 - 123185840 123194392 - 122701293 122703357 - 1299612;1580863;6480464 12646212 12044878;12477932;12522134;15489334;16018973;16674924;17932499;18639743;18787507;18983141;19136666;19141678;19502010;19633298;19913121;20184326;20380810;20460384;20628086;20655299;21167710;21454438;21655214;21768093;22267479;22962331;23526298;23658787;23770183;24371223;2834384 338442 Q8TDS4 AB065665;AB065876;AB083632;ABBA01060454;AC026333;AK290915;AL572062;AL698846;AMYH02027434;AX646475;AY148884;BC027965;BC056419;BC063461;CD364466;EU012026;NM_177551 AAH27965;AAH56419;AAN71621;ABS29270;BAB89345;BAC05891;BAC06094;BAF83604;CAD69365;NP_808219;Q8TDS4 Hs.524812 2106771;2108119;2152884 GC09S04;GPR109B_8864;RH17364 GPR109A;HCA2;HM74a;HM74b;NIACR1;Puma-g G protein-coupled receptor 109A;G protein-coupled receptor HM74a;G-protein coupled receptor 109A;G-protein coupled receptor HM74A;OTTHUMP00000222584;PUMAG;hydroxy-carboxylic acid receptor 2;niacin receptor 1;nicotinic acid receptor APPROVED protein-coding ENSG00000182782 HGNC:24827 16453 609163 VALIDATED 1352684 HCCS holocytochrome c synthase The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010] X X X p22.3 15256857 15268657 + 11129406 11141206 + 11111286 11123086 + 1600417;1580863;6480464;6907045;7240710;8554872;8699517 17033964 11827457;12444108;12477932;14702039;15489334;16263763;16344560;17207965;17893649;18029348;19322201;19734545;20301533;20301767;21906983;23150584;23401659;8364577;8661044;9674913 3052 P53701;Q68D50 ABBA01070883;AC003657;AF053015;AI027533;AK097815;AMYH02038852;AU310864;BC001691;BC095455;CH471074;CR749578;DB253108;NG_016460;NM_001122608;NM_001171991;NM_005333;U36787 AAB19007;AAC35274;AAH01691;AAH95455;ACE86902;ACE87589;ADQ31712;BAG53533;CAH18370;EAW98783;EAW98784;EAW98785;NP_001116080;NP_001165462;NP_005324;P53701 Hs.211571 1686718;1706014;2186776 RH71227;RH91114;SHGC-78640 CCHL;DKFZp779I1858;MCOPS7;MLS OTTHUMP00000022903;OTTHUMP00000022904;OTTHUMP00000022905;cytochrome c heme-lyase;cytochrome c-type heme lyase;holocytochrome c-type synthase;microphthalamia with linear skin defects APPROVED protein-coding ENSG00000004961 HGNC:4837 02085 300056;309801 REVIEWED 6481339 HCFC1-AS1 HCFC1 antisense RNA 1 q28 100873990 BQ010816;HG512781;HY114223;NG_012513;NR_046608;U52112 Hs.682261 APPROVED ncrna HGNC:40273 VALIDATED 1316071 HCAR1 hydroxycarboxylic acid receptor 1 G protein-coupled receptors (GPCRs, or GPRs), such as GPR81, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Feb 2005] 12 12 12 q24.31 122804963 122807939 - 123212153 123215129 - 122727606 122730582 - 1580863;6480464 11574155;12044878;12477932;15177553;15489334;15831516;18952058;19047060;19633298;19913121;20628086;21454438;21862690;21907911;24657625 27198 Q9BXC0 AB065866;AB083631;ABBA01060453;AC026333;AF345568;AF385431;AF385432;AF411110;AK289557;AK313955;AMYH02027435;AY507143;BC066881;BC066882;BC066883;BC067484;BC095506;CH471054;DQ157221;EU809458;NM_032554 AAH66881;AAH66882;AAH66883;AAH67484;AAH95506;AAK29071;AAL26481;AAM43832;AAM43833;AAR92485;AAZ67915;ACJ03844;ACT64401;ACT64402;BAB89344;BAC06084;BAF82246;BAG36671;EAW98337;NP_115943;Q9BXC0 Hs.610873;Hs.711001 5037552;5492421 D8S2279;UniSTS:481004 FKSG80;GPR104;GPR81;HCA1;LACR1;TA-GPCR;TAGPCR G protein-coupled receptor 104;G protein-coupled receptor 81;G-protein coupled receptor 104;G-protein coupled receptor 81;OTTHUMP00000239651;T-cell activation G protein-coupled receptor;hydroxy-carboxylic acid receptor 1;lactate receptor 1 APPROVED protein-coding HGNC:4532 06083 606923 VALIDATED 1351730 HCFC1R1 host cell factor C1 regulator 1 (XPO1 dependent) FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 16 16 16 p13.3 3278182 3279843 - 3072626 3074287 - 3022620 3024286 - 6480464 12235138;12477932;15146197;16169070;16341674;17207965;19913121;20628086;21832049 54985 I3L174;I3L1N5;J3KNY1;Q9NWW0 ABBA01026726;AC108134;AK000575;AK293768;AMYH02031280;AY116892;BC064026;BC065514;BC080178;BM790570;BM925785;BU633901;CH471112;CN427571;CR457245;FB775554;FB775556;FB775558;NM_001002017;NM_001002018;NM_001288665;NM_001288666;NM_001288667;NM_001288668;NM_017885 AAH64026;AAH80178;AAM49798;ADQ32014;BAA91265;BAG57184;CAG33526;CAV30734;CAV30735;CAV30736;EAW85424;EAW85425;EAW85426;EAW85427;NP_001002017;NP_001002018;NP_001275594;NP_001275595;NP_001275596;NP_001275597;NP_060355;Q9NWW0 Hs.423103 2109379;2117908;2129131;2142712 HCFC1R1_8058;RH41886;RH67838;STS-T56712 FLJ20568;HPIP;MGC70711;MGC99622 HCF-1 beta-propeller interacting protein;HCF-1 beta-propeller-interacting protein;host cell factor C1 regulator 1;host cell factor C1 regulator 1 (XPO1 dependant) protein-coding ENSG00000103145 HGNC:21198 13636 VALIDATED 5130642 HCFC2P1 host cell factor C2 pseudogene 1 13 13 13 89977368 89978882 + 109132610 109134124 + 108480262 108481776 + 100419149 ABBA01027019;AL138694;AMYH02028683;NG_024949 pseudo HGNC:39815 INFERRED 1345622 HCFC1 host cell factor C1 This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] X X X q28 153446719 153470530 - 153213008 153237284 - 153947557 153971833 - 1580863;6480464;7240710;8554872;8699517;9479053 22663077 10623756;10629049;10637318;10675337;10779346;10821850;10871379;10958670;10976766;11340173;11384994;11733490;12149646;12235138;12244100;12271126;12456665;12477932;12670868;12743030;1448082;14532282;14983011;15190068;15199122;15200950;15489334;15522876;15705566;15931389;15960975;15966902;16042417;16227571;16624878;16633736;16964243;17081983;17567994;17578910;17612494;17643375;17846119;17998332;18029348;18271526;18343819;18520591;18585351;18838386;18838538;19131338;19188440;19292868;19322201;19471022;19615732;19763085;19815555;19913121;19946888;20018852;20126307;20133788;20200153;20211142;20305087;20360068;20479123;20516061;20622854;20628086;20805357;21081666;21139048;21145461;21252943;21285374;21295698;21319273;21484256;21642991;21653943;21670149;21693764;21890473;21903422;21906983;22371484;22412018;22505724;22586326;22683710;22863883;22883232;22939629;23000143;23000965;23022380;23045687;23539139;23583719;23629655;24011988;24211834;24311690;24332808;24457600;24703950;24816145;25036637;7590226;7597030;7829097;7876203;8392914;8454622;8661027;9271389;9315674;9389645;9658067;9822615;9889203 3054 A6NEM2;AAB27583;H7C1C4;P51610 ABBA01045330;ABBA01045331;ABBA01045332;ABBA01045333;AMYH02040851;BC010606;BC019887;BC030560;BC063435;CH471172;DQ655939;L20010;NG_012513;NM_005334;U52112;X79198;XM_005274664;XM_006724815;XM_006724816 AAB27583;AAH19887;AAH30560;AAH63435;ACX32326;CAA55790;EAW72767;EAW72768;EAW72769;NP_005325;P51610;XP_005274721;XP_006724878;XP_006724879 Hs.83634 1661329;1672563;1694288;1748019;1772603;1798526;1798624;1800154;1800498;1800970;1801120;1801250;1801702;1801762;1801764;1801814;1802022;1802024;1802182;1802486;1802850;1802952;1803056;1803644;1803972;1804196;1806618;1806814;1814614;1814846;1818078;1831638;1845780;2034524;2034526;2034528;2034530;2034532;2034534;2034536;2034538;2034540;2034542;2034544;2034546;2034548;2034550;2034552;2034554;2034556;2034558;2034560;2034562;2034564;2034566;2034568;2034570;2034572;2034574;2034576;2034578;2034580;2034582;2034584;2034586;2034588;2034590;2034592;2034594;2034596;2034598;2034600;2034602;2034604;2034606;2034608;2034610;2034612;2034614;2034616;2034618;2034620;2034622;2034624;2034626;2034628;2034630;2034632;2034634;2034636;2034638;2034640;2034642;2034644;2034646;2034648;2034650;2034652;2034654;2034656;2034658;2034660;2034662;2034664;2034666;2034668;2034670;2034672;2034674;2034676;2034678;2034680;2034682;2034684;2034686;2034688;2034690;2034692;2034694;2034696;2034698;2034700;2034702;2034704;2034706;2034708;2034710;2034712;2034714;2034716;2034718;2034720;2034722;2034724;2034726;2034728;2034730;2034732;2034734;2034736;2034738;2034740;2034742;2034744;2034746;2034748;2034750;2034752;2034754;2034758;2102148;2102150;2102152;2102154;2102156;2102158;2102160;2102162;2102164;2102166;2102168;2102170;2102172;2102174;2102176;2102178;2115209;2165306;2180882;5094488;5094490;5117646 DXS7501;ECD00101;ECD00151;ECD00933;ECD01109;ECD01350;ECD01429;ECD01497;ECD01731;ECD01761;ECD01762;ECD01788;ECD01892;ECD01893;ECD01973;ECD02129;ECD02313;ECD02366;ECD02419;ECD02728;ECD02900;ECD03018;ECD04266;ECD04369;ECD08337;ECD08454;ECD10095;ECD16956;ECD24109;G10720;G42839;G54827;G54828;G66666;GDB:594111;REN88271;REN88272;REN88273;REN88274;REN88275;REN88276;REN88277;REN88278;REN88279;REN88280;REN88281;REN88282;REN88283;REN88284;REN88285;REN88286;REN88287;REN88288;REN88289;REN88290;REN88291;REN88292;REN88293;REN88294;REN88295;REN88296;REN88297;REN88298;REN88299;REN88300;REN88301;REN88302;REN88303;REN88304;REN88305;REN88306;REN88307;REN88308;REN88309;REN88310;REN88311;REN88312;REN88313;REN88314;REN88315;REN88316;REN88317;REN88318;REN88319;REN88320;REN88321;REN88322;REN88323;REN88324;REN88325;REN88326;REN88327;REN88328;REN88329;REN88330;REN88331;REN88332;REN88333;REN88334;REN88335;REN88336;REN88337;REN88338;REN88339;REN88340;REN88341;REN88342;REN88343;REN88344;REN88345;REN88346;REN88347;REN88348;REN88349;REN88350;REN88351;REN88352;REN88353;REN88354;REN88355;REN88356;REN88357;REN88358;REN88359;REN88360;REN88361;REN88362;REN88363;REN88364;REN88365;REN88366;REN88367;REN88368;REN88369;REN88370;REN88371;REN88372;REN88373;REN88374;REN88375;REN88376;REN88377;REN88378;REN88379;REN88380;REN88381;REN88382;REN88383;REN88384;REN88385;REN88386;REN88388;RH45209;RH70255;STS-D20139;STS-L20010;stSG603716;stSG603717;stSG603718;stSG603719;stSG603720;stSG603721;stSG603722;stSG603724;stSG603725;stSG603726;stSG603727;stSG603728;stSG603729;stSG603730;stSG603731;stSG603732 CFF;HCF;HCF-1;HCF1;HFC1;MGC70925;MRX3;PPP1R89;VCAF C1 factor;OTTHUMP00000025995;OTTHUMP00000025997;VP16 accessory protein;host cell factor 1;mental retardation, X-linked 3 APPROVED protein-coding ENSG00000172534 HGNC:4839 02061 300019;309541 REVIEWED 1347135 HCG12 HLA complex group 12 p21.3 12477932 493826 AL590705;BC058829;BC070371;NR_002831 Hs.648180 bA457M11.2 miscrna HGNC:31344 1344561 HCG11 HLA complex group 11 (non-protein coding) INTERACTS WITH methyl methanesulfonate; trichostatin A; valproic acid 6 6 6 p22.2 27751268 27756954 + 26521934 26527621 + 26521706 26527393 + 6480464 14702039 493812 ABBA01066557;AK024111;AL121936;AMYH02013353;NR_026790 Hs.272939 5022578;5022651;5037552;5118444 D11S2921;D11S3316;D1S1423;D8S2279 FLJ14049;FLJ30357;bK14H9.3 APPROVED ncrna HGNC:17707 VALIDATED 1316555 HCFC2 host cell factor C2 This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008] 12 12 12 q23.3 104121988 104164044 + 104458236 104500302 + 104064458 104106524 + 737633;1580863;6480464 12477932 10196288;15199122;15489334;16344560;18029348;20305087;21903422;22379092;8125298 29915 C0H5X3;F8VU09;Q9Y5Z7 ABBA01053208;AC078819;AC084359;AC089983;AF117210;AI247087;AK223342;AK296523;AK313466;AMYH02027091;BC006558;BC033799;CH471054;DB030069;NM_013320;XR_245922 AAD27814;AAH06558;AAH33799;ABZ92020;BAD97062;BAG36252;BAG59154;EAW97736;EAW97737;NP_037452;Q9Y5Z7 Hs.506558 1668816;1699498;1717849;1746409;1755281;2184505 G64552;RH103342;RH122756;SHGC-142174;SHGC-64926;STS-H93140 FLJ94012;HCF-2;HCF2 C2 factor;OTTHUMP00000243122;host cell factor 2 APPROVED protein-coding ENSG00000111727 HGNC:24972 06393 607926 REVIEWED 1344045 HCG13P HLA complex group 13 pseudogene p21 493813 Z98744 dJ193B12.5 pseudo HGNC:17724 1347152 HCG16 HLA complex group 16 414766 HGNC:20424 1344551 HCG15 HLA complex group 15 414761 HGNC:18361 1352352 HCG17 HLA complex group 17 (non-protein coding) 6 6 p21 30201816 30293911 - 30234039 30326134 - 24324551;8889548 414778 AB023055;ABBA01038041;AI194060;AL662782;AL662795;AL662832;AL773535;AL844220;AL845452;AMYH02013427;AMYH02013428;AMYH02013429;AMYH02013430;BM683300;BM929327;BQ186667;BX248419;BX248580;BX927189;BX927214;CR388382;CR759281;CR759928;CT009520;CT009538;HG499104;HG499105;NR_052012 Hs.485041 LINC00046;NCRNA00046 ncrna ENSG00000270604 HGNC:31339 VALIDATED 1354076 HCG14 HLA complex group 14 (non-protein coding) 6 6 p21 28864145 28865099 + 28896530 28897320 + 414760 ABBA01038028;AI859157;AL662859;AL662871;AMYH02013403;AW270927;BX000360;BX119924;CR759942;CR936876;NR_104117 Hs.211005 dJ111M5.4 HLA complex group 14 APPROVED ncrna ENSG00000224157 HGNC:18323 VALIDATED 1342994 HCG18 HLA complex group 18 (non-protein coding) INTERACTS WITH arsenous acid; copper atom; copper(0) 6 6 6 p21.3 31853381 31893117 - 30255174 30294933 - 30287397 30327156 - 6480464 12477932;14702039;16344560 414777 ABBA01038041;AK023334;AK055657;AK056160;AK098416;AL662795;AL662832;AL773535;AL844220;AL845452;AMYH02013428;AMYH02013429;AMYH02013430;BC035165;BC040058;BX248419;BX248580;BX927189;BX927214;CR759281;CR759928;CT009538;DA780826;HG499106;HG499107;HG499108;HG499109;HG499110;HG499112;HG499113;HG499114;HG499116;HG499117;HG499118;NR_024052;NR_024053;NR_102326;NR_102327 Hs.485041 1645504;1650989;1684682;1693520;1769164;2118426;2143818;2181585;2220142 D6S1174E;D6S2847;G31106;RH12871;RH15870;RH16369;RH46602;RH98985;SHGC-58578 FLJ25550;FLJ31095;FLJ31598 APPROVED ncrna HGNC:31337 VALIDATED 1345560 HCG19P HLA complex group 19 pseudogene 414776 HGNC:31336 1346831 HCG20 HLA complex group 20 414774 HGNC:31334 1350067 HCG21 HLA complex group 21 414775 HGNC:31335 1353415 HCG22 HLA complex group 22 FOUND IN extracellular region (inferred); INTERACTS WITH hydralazine; valproic acid 6 6 6 p21.33 32622207 32627873 + 31021227 31027667 + 31053450 31059890 + 6480464 14702039;19851445;20981447;21051598;21738480;22493691;23001997;23263863 285834 E2RYF7 AB560771;AB600644;ABBA01038067;AK094433;AL663093;AL669830;AL805909;AMYH02013441;BX247900;BX927139;CR753812;CR759772;CR759964;CT009481;HG499131;HG499132;HG499135;NR_003948 BAJ24155;BAJ33503;E2RYF7 Hs.207528 1790825;1790877;2189607;2220228;2220230;7184132 C2_4_5;D6S2693;D6S2694;D6S2941;D6S2942 FLJ37114;PBMUCL2 APPROVED ncrna ENSG00000228789 HGNC:27780 613918 VALIDATED 1348807 HCG23 HLA complex group 23 (non-protein coding) ASSOCIATED WITH Melanoma (inferred) 6 6 p21 32358287 32361468 + 32390510 32393691 + 8554872 21804548;22688191;23535732 414764 ABBA01038110;AC226007;AL662796;AL670296;AL935032;AMYH02013471;AMYH02013472;BX255945;BX908732;CR752644;CR759773;CR759917;HG499154;NR_044996 Hs.57692 dJ1077I5.3 APPROVED ncrna ENSG00000228962 HGNC:19713 VALIDATED 1348434 HCG25 HLA complex group 25 (non-protein coding) 6 6 p21 33217313 33222667 + 33249536 33254890 + 414765 ABBA01038138;AL645940;AL713971;AL844527;AMYH02013481;BX248408;CR547129;CR759786;CR759817;CR762434;HG499168;HG499169;HG499170;NR_044997 Hs.675862 dJ1033B10.16 APPROVED ncrna ENSG00000232940 HGNC:20196 VALIDATED 1350954 HCG26 HLA complex group 26 (non-protein coding) 6 6 6 p21.3 33038185 33039364 + 31439006 31440185 + 31471229 31472408 + 10557312;16702430;22399527;22797727;7806210 352961 AB088105;ABBA01038075;AL645933;AL662866;AMYH02013452;BX001040;BX005439;CR753820;CR753864;L29376;NR_002812 Hs.132807 3.8-1;NCRNA00191;bCX205D4.4;bPG181B23.4 ncrna HGNC:29671 VALIDATED 1351896 HCG2P1 HLA complex group 2 pseudogene 1 387484 HGNC:17900 1353303 HCG27 HLA complex group 27 (non-protein coding) 6 6 6 p21.33 32765777 32771982 + 31165537 31171745 + 31197760 31203968 + 737633;6480464 12477932 14702039;16344560;19851445;20585627;21738480;22319020;24324648 253018 H0YLW2;H0YMJ2 ABBA01038072;AK097442;AL662833;AL662844;AL845458;AMYH02013445;BC041465;BC104432;BC104433;BX088580;BX322539;CH471081;CR388229;CR759815;DB027671;NR_026791 EAX03370;EAX03371;EAX03372 Hs.659818 1682690;1682968;1790813;1790815;7184112 D6S2683;D6S2684;RH79601;RH92664 FLJ40123;MGC129794;MGC129795;bCX101P6.9;bPG299F13.9;bQB115I13.2 APPROVED ncrna ENSG00000206344 HGNC:27366 13637 VALIDATED 1343348 HCG2P2 HLA complex group 2 pseudogene 2 387502 HGNC:30786 1348287 HCG2P4 HLA complex group 2 pseudogene 4 387501 HGNC:29015 1344810 HCG2P7 HLA complex group 2 pseudogene 7 6 6 p21.3 31464838 31468447 + 29866808 29870438 + 10557312;16702430 80867 AB023057;AB201551;AL645929;AL645935;AL845454;BX284699;BX927141;CR388220;CR759913;CT009496;CT009517;NR_001318;X81001 Hs.720720 HCGII-7;HCGII.2 pseudo VALIDATED 1351536 HCG24 HLA complex group 24 (non-protein coding) p21 414768 AL645940;BG033647;HG499167 dJ1033B10.15 APPROVED ncrna HGNC:23500 1348159 HCG4 HLA complex group 4 (non-protein coding) INTERACTS WITH cyclosporin A 6 6 6 p21.3 31362175 31364194 - 29758808 29760850 - 29791031 29793073 - 6480464 10557312;10727083;12477932;17971048;19569244 54435 ABBA01038036;AF036977;AF055066;AL645939;AL671561;AL844851;AMYH02013420;BA000025;BC011879;BC021249;BX005428;BX927182;CR759769;CR788234;CR925767;NR_002139 AAD02090 Hs.660431 1678407 RH80527 HCG4P10;HCGIV-10;HCGIV.9 APPROVED ncrna HGNC:21241 VALIDATED 1349547 HCG4B HLA complex group 4B (non-protein coding) INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 6 6 6 p21.3 31490566 31491628 - 29892369 29894992 - 29924592 29927215 - 6480464 10557312;14702039;16702430 80868 Q96MM2 AB023056;AB201552;ABBA01038039;AK056727;AL645935;AL671277;AL845454;AMYH02013425;BX005091;CR382333;CR388220;CR759913;NR_001317;X81005 BAB71265 Hs.661198;Hs.732684 1794508;1852219 PMC316580P5;STS-M80468 HCG4P6;HCGIV-06;HCGIV-6;HCGIV.5;bCX67J3.3;bPG309N1.1;bQB90C11.3 APPROVED ncrna HGNC:22919 VALIDATED 1351882 HCG2P6 HLA complex group 2 pseudogene 6 6 6 p21.3 31526298 31533388 + 29928106 29935198 + 10557312;20593013 353006 AB023056;AL645935;AL671277;AL845454;BA000025;BX005091;CR382333;CR388220;CR759762;CR759913;NG_016118 1340539 D6S1641 HCGII-6;HCGII.1 pseudo REVIEWED 1351991 HCG4P1 HLA complex group 4 pseudogene 1 387503 HGNC:30978 1346547 HCG2P8 HLA complex group 2 pseudogene 8 6 6 p21.3 31376029 31379572 + 29772896 29776439 + 10557312 353012 AL645939;AL671561;AL844851;BA000025;BX005428;BX927141;CR759769;CR788234;CR925767;NG_002737 HCGII-8;HCGII.3 pseudo PROVISIONAL 1348171 HCG4P11 HLA complex group 4 pseudogene 11 6 6 6 p21.3 31292410 31293399 - 29688955 29689944 - 29721178 29722167 - 10557312 353020 ABBA01038036;AL645939;AL669813;AL844851;AMYH02013419;BA000025;BX005428;BX927250;CR753818;CR759790;NG_002744;NG_012009 2125617;2189639 D6S2269;RF HCGIV-11;HCGIV.10 pseudo HGNC:22930 INFERRED 1348369 HCG4P2 HLA complex group 4 pseudogene 2 387504 HGNC:30979 1343995 HCG4P4 HLA complex group 4 pseudogene 4 6 6 6 p21.3 31521194 31521621 - 29922982 29923410 - 29955205 29955633 - 10557312 353002 AB023056;ABBA01038040;AL645935;AL671277;AL845454;AMYH02013426;BA000025;CR382333;CR388220;CR759762;CR759913;NG_016113 HCGIV-04;HCGIV-4;HCGIV.3 pseudo HGNC:22924 INFERRED 1350129 HCG4P10 HLA complex group 4 pseudogene 10 6 6 p21.3 31361624 31362713 - 29758257 29759346 - 10557312 353017 AL645939;AL671561;AL844851;BA000025;BX005428;BX927182;CR759769;CR788234;CR925767;NG_002741 HCGIV-10;HCGIV.9 pseudo HGNC:22929 INFERRED 1346603 HCG4P7 HLA complex group 4 pseudogene 7 6 6 6 p21.3 31452026 31452923 - 29853887 29854784 - 29886110 29887007 - 10557312 353004 AB023057;ABBA01038038;AL645929;AL671561;AL845454;AMYH02013425;BA000025;BX284699;BX927141;CR388220;CT009496;CT009517;NG_016116 HCGIV-07;HCGIV-7;HCGIV.C pseudo HGNC:22926 INFERRED 1344229 HCG4P3 HLA complex group 4 pseudogene 3 6 6 6 p21.3 31570827 31571810 - 29972622 29973605 - 30004845 30005828 - 10557312 353001 AB023056;ABBA01038041;AL645935;AL671277;AL845454;AMYH02013426;BA000025;BX005091;BX927229;CR388205;CR759763;CR759943;CR759960;NG_016112 1852219 STS-M80468 HCGIV-03;HCGIV-3;HCGIV.2 pseudo HGNC:22922 INFERRED 1353380 HCG4P5 HLA complex group 4 pseudogene 5 6 6 6 p21.3 31506903 31507791 - 29908689 29909578 - 29940912 29941801 - 10557312 353003 AB023056;ABBA01038040;AL645935;AL671277;AL845454;AMYH02013426;BA000025;BX005091;CR382333;CR388220;CR759913;NG_016115;NG_029217 1786138;1794508 PMC316580P5;SHGC-172574 HCGIV-05;HCGIV-5;HCGIV.4 pseudo HGNC:22925 INFERRED 1604944 HCG4P9 HLA complex group 4 pseudogene 9 6 6 6 p21.3 31369334 31371036 - 29766201 29767903 - 29798424 29800126 - 10557312 353014 ABBA01038036;AL645939;AL671561;AL844851;AMYH02013420;BA000025;BX005428;BX927141;CR759769;CR788234;CR925767;NG_002739 2220094 D6S2854 HCGIV-09;HCGIV-9 pseudo HGNC:22928 INFERRED 1345986 HCG9 HLA complex group 9 (non-protein coding) This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined. [provided by RefSeq, Jul 2009] 6 6 6 p21.3 31541082 31544371 + 29942892 29946180 + 29975115 29978403 + 10557312;10727083;16344560;16702430;19851445;20410501;20593013;21647149;22197929;23511034;24489884;8575815;8753856 10255 Q96QB4 AB023056;AB088085;AB103591;AB202080;ABBA01038041;AF055066;AK289926;AL645935;AL671277;AL845454;AMYH02013426;BA000025;BX005091;BX927229;CH471081;CR388205;CR759762;DA293452;HG499091;NR_028032;X92109;X95289 AAC24824;AAI48574;AAI56750;BAB63335;BAC54918;BAE78599;BAF31255;BAF82615;CAA63081;CAA64611;EAX03247 Hs.656251 1732099;7184824 D6S510 HCGIX;HCGIX4 APPROVED ncrna ENSG00000204625 HGNC:21243 17092 615797 VALIDATED 1351443 HCG9P1 HLA complex group 9 pseudogene 1 387505 HGNC:30980 1352669 HCG4P8 HLA complex group 4 pseudogene 8 6 6 6 p21.3 31397025 31398010 - 29793906 29794891 - 29826129 29827114 - 10557312;20593013 353005 ABBA01038036;AL022723;AL645929;AL645939;AL671561;AMYH02013420;BA000025;BX001005;BX247949;BX927141;CR759769;CR788234;CR925767;NG_016117 1745701;1745703;1745705;1745707 GDB:632502;GDB:632559;GDB:632567;GDB:632571 HCGIV-08;HCGIV-8;HCGIV.7 pseudo HGNC:22927 INFERRED 1351523 HCG9P2 HLA complex group 9 pseudogene 2 387506 HGNC:30981 1352356 HCG9P5 HLA complex group 9 pseudogene 5 6 6 6 p21.3 31319464 31319858 + 29716031 29716425 + 29748254 29748648 + 10557312 353019 ABBA01038036;AL645939;AL669813;AL844851;AMYH02013419;BA000025;BX005428;BX927182;CR753818;CR788234;NG_002743 7184130 D6S2707 HCGIX-5;dJ377H14.6 pseudo HGNC:30983 INFERRED 1347510 HCHOLA4 hypercholesterolemia, autosomal dominant 4 246132 HGNC:18573 1345524 HCG9P3 HLA complex group 9 pseudogene 3 387507 HGNC:30982 1347465 HCG8 HLA complex group 8 INTERACTS WITH cadmium atom 6 6 6 p21.3 31576811 31579417 - 29979878 29981699 - 30012101 30013922 - 6480464 10557312;12477932;12975309;16702430;8575815 100507399 Q6UXQ7 AB088086;ABBA01038041;AL645935;AL669914;AL845454;AMYH02013426;AY358246;BC036766;BM991870;BX088647;BX927229;CR388205;CR759763;CR759960;NR_103542;X92110 AAQ88613 Hs.653168;Hs.729074 1700972;2141474;5022649;5022651 D11S2875;D11S2921;RH104113;WI-16058 HCGVIII;HCGVIII-1 ncrna HGNC:21242 615801 PREDICTED 1348375 HCL2 hair color 2 (red) 3057 HGNC:4842 266300 1342481 HCL1 hair color 1 (brown) 3056 HGNC:4841 1350821 HCL3 hair color 3 (brown) ASSOCIATED WITH Oculocutaneous albinism type 2 (inferred) 7240710 8875191 3058 HGNC:4843 203200;227220 733930 HCN1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1 The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011] 5 5 5 p12 45153108 45590074 - 45255052 45696220 - 45254950 45696118 - 1580863;6480464;8699517;8554872 11133998;12034718;12598605;12668666;12890777;12928435;14702039;16382102;17529967;17931874;18081024;18454440;19232126;19850743;20145138;20806410;21504900;21562186;21615589;22094222;23033536;23077068;24403084;24451387;24747641;8889548;9405696;9630217;9634236;9921901 348980 O60741;Q86WJ6 ABBA01024276;ABBA01024277;ABBA01024278;ABBA01024279;ABBA01024280;AC099514;AC114975;AC117529;AC138520;AF064876;AF488549;AK094523;AMYH02011262;AMYH02011263;AMYH02011264;AMYH02011265;AMYH02011266;AMYH02011267;AMYH02011268;AMYH02011269;BM931647;BX537747;CH471119;CK299850;DR003732;JA696656;KF457901;KF457909;NM_021072;XM_006714472 AAC39759;AAI56455;AAI72530;AAO49469;CCF23297;EAW56077;EAW56078;NP_066550;O60741;XP_006714535 Hs.353176 1339330;1671120;1680938;1688895;1704358;1715337;1747611;1747857;1767707;2135153;2155908;2176284;2219124;5095026 D5S1728;D5S1753;D5S2024;D5S2086;G65478;G66855;HCN1;HCN1__6701;RH120500;RH46224;RH74834;SHGC-14547;SHGC-53846;SHGC-78170 BCNG-1;BCNG1;EIEE24;HAC-2 OTTHUMP00000161806;brain cyclic nucleotide gated channel 1;brain cyclic nucleotide-gated channel 1;hyperpolarization-activated, cyclic nucleotide-gated potassium channel 1 (hcn1);potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 APPROVED protein-coding HGNC:4845 09099 602780;615871 REVIEWED 732305 HCN2 hyperpolarization activated cyclic nucleotide-gated potassium channel 2 Hyperpolarization-activated cation channels of the HCN gene family, such as HCN2, contribute to spontaneous rhythmic activity in both heart and brain.[supplied by OMIM, Jul 2010] 19 19 19 p13.3 200463 228092 - 589893 617159 + 589893 617159 + 1580863;6480464 10228147;10524219;11076863;11133998;12034718;12194012;12477932;12640457;12813043;12890777;12928435;15057824;15687126;15932727;15961404;15980171;16382102;16777944;17043149;17474147;17931874;18768480;19471099;19913121;20437590;20628086;21615589;21890473;22094222;22131395;23395072;23907424;24324597;9405696;9630217;9921901 610 Q09ND3;Q9UL51 ABBA01002578;ABBA01002579;AC004449;AC005559;AF064877;AF065164;AJ012582;AJ133727;AMYH02035116;BC039619;CH471242;DQ854815;JA696658;KF456465;NM_001194 AAC28444;AAC33280;AAC39760;AAI18002;ABI75145;CAB42602;CAB42630;CCF23298;EAW61179;NP_001185;Q9UL51 Hs.124161 1739525;1793130 D19S814;PMC196911P5 BCNG-2;BCNG2;HAC-1 brain cyclic nucleotide gated channel 2;brain cyclic nucleotide-gated channel 2;potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 APPROVED protein-coding ENSG00000099822 HGNC:4846 07213 602781 VALIDATED 732471 HCK HCK proto-oncogene, Src family tyrosine kinase The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010] 20 20 20 q11-q12 27396349 27446028 + 30639991 30689659 + 32052188 32101856 + 1580863;6480464;6484113;8554872 10068673;10092522;10318861;10364375;10388555;10428862;10527858;10544125;10547288;10574946;10586033;10642173;10749872;10799548;10849448;10858437;10918587;10934191;10967098;10973280;11071635;11097855;11239464;11278465;11294897;11328823;11350938;11448168;11463741;11500821;11533201;11689697;11741929;11780052;11896602;11904303;11940572;11976726;11994282;12029088;12033791;12076760;12138090;12181444;12235133;12244095;12477932;12496276;12522270;12538589;12576423;12592324;12600646;12626508;12734187;12734410;12748290;12769846;12900520;1373873;14506255;14551197;14551213;14702039;14969582;14993658;15010462;15078178;15144186;15263807;15489334;15491611;15595833;15626739;15638726;15707590;1572549;15784897;15952790;15998323;16169070;16210316;16271895;16273093;16344560;16374509;16454711;16849330;1689310;16964398;17024369;17081983;17141806;1720539;17535448;17668209;17868192;17893228;18005690;18042718;18067320;18155796;18538446;1875927;18794796;19149577;19211505;19234535;19585521;19807124;19807924;20056178;20181660;20488787;20670214;20702582;20798061;20810664;20936779;21309750;21365684;21477083;21567396;21625496;21696586;21738584;21763503;21832049;21878628;21886773;21890473;21988832;21993313;22021612;22110726;22185326;22345475;22364282;22393415;22537596;22623531;22641034;22651890;22745667;22939624;22974441;23128233;23317503;23352142;23439650;23559827;23576497;23601552;23847689;23896410;23986795;24051604;3453117;3496523;7588629;7682059;7782336;7791757;7859737;8058772;8064233;8125298;8599760;8626374;8657103;8885868;8955135;8995358;9020138;9024658;9109402;9178913;9195918;9218412;9268059;9400828;9407116;9571048;9656992;9705913;9742969;9778343;9790917;9837776;9890970 3055 A8K4G3;H0Y3C5;H7BXG4;H7C5P9;J3KPD6;P08631 ABBA01019283;ABBA01019284;AK026432;AK225819;AK289896;AK290928;AK298726;AK314335;AL049539;AL353092;AMYH02036913;AMYH02036914;AMYH02036915;AW139272;BC014435;BC073748;BC094847;BC108930;BC108931;BC113854;BC114463;CH471077;DA465978;M16592;M73233;NG_029471;NM_001172129;NM_001172130;NM_001172131;NM_001172132;NM_001172133;NM_002110;X58741 AAA52644;AAH14435;AAH73748;AAH94847;AAI08931;AAI08932;AAI13855;AAI14464;BAB15482;BAF82585;BAF83617;BAG60878;CAA41565;EAW76392;EAW76393;EAW76394;NP_001165600;NP_001165601;NP_001165602;NP_001165603;NP_001165604;NP_002101;P08631 Hs.655210 1672659;1687702;1734190;1750353;1856340;2148308;2174079;2179527;2217410;5107599 336XG5;AL031189;D20S512E;D20S727;G09843;HCK_3380;RH45427;RH92890;SGC34341;SHGC-112528 JTK9;p59Hck;p61Hck OTTHUMP00000030578;OTTHUMP00000030579;OTTHUMP00000225030;OTTHUMP00000225031;hematopoietic cell kinase;hemopoietic cell kinase;p59-HCK/p60-HCK;tyrosine-protein kinase HCK APPROVED protein-coding ENSG00000101336 HGNC:4840 00796 142370 REVIEWED 1312380 HCLS1 hematopoietic cell-specific Lyn substrate 1 ENCODES a protein that exhibits protein kinase binding; RNA polymerase II transcription factor binding; INVOLVED IN cellular response to cytokine stimulus; negative regulation of leukocyte apoptotic process; positive regulation of granulocyte differentiation; PARTICIPATES IN pathogenic Escherichia coli infection pathway; Shigella infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; transcription factor complex; INTERACTS WITH acetylsalicylic acid; doxorubicin; isotretinoin 3 3 3 q13 119759962 119789755 - 121350246 121379791 - 121631399 121660944 - 1580863;6480464;6907045;8554872 10066823;10233887;10590261;10806407;11689006;11988074;12477932;12522270;12534372;14702039;15022330;15144186;15166239;15489334;15570572;15710041;15754022;15795233;16094384;16157603;16189514;16713569;17508001;18029348;18067320;20211142;20467438;20530793;21044950;21287358;22333038;22679023;22768161;23001182;23017497;23022380;24816145;2587259;7682714;7927516;8125298;8713105;8978766;9058808;9104825;9670936 3059 E7EVW7;F8WDD5;F8WEZ6;P14317 ABBA01016480;AC133750;AI091876;AK124015;AK225633;AK298663;AK298696;AK300301;AK312750;AMYH02007529;AMYH02007530;BC016758;BP338037;BQ002360;BT006824;BY994733;CA447092;CH471052;CR456794;DC407066;DC427610;NM_001292041;NM_005335;X16663 AAH16758;AAP35470;ABM81590;ABM84770;BAG35617;BAG60831;BAG60854;BAG62054;CAA34651;CAG33075;EAW79505;EAW79506;NP_001278970;NP_005326;P14317 Hs.14601 1718845;1772611;1857803;2107205;2137817;2143363;2148709;7183677 D3S3431;D3S3434;D3S3443;HCLS1_7801;RH123126;RH68808;STS-X16663 CTTNL;HS1;lckBP1;p75 OTTHUMP00000215180;OTTHUMP00000215182;cortactin-like;hematopoietic lineage cell-specific protein protein-coding ENSG00000180353 HGNC:4844 03199 601306 VALIDATED 737126 HCN4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008] 15 15 15 q24.1 50490801 50540207 - 73612200 73661605 - 73319859 73369264 - 1580863;6480464;7240710;8554872;8699517 10228147;10430953;11675786;12194012;12750403;12813043;12856183;12928435;14657344;14720471;14724293;15123648;15342556;15687126;16079136;16382102;16407510;16484306;16777944;17474147;17646576;17977941;18162181;18375593;18383475;19165230;19238754;19471099;19570998;19748888;19796353;19913121;20179882;20207172;20301690;20628086;20662977;21372143;21529705;21615589;22544366;22613709;22683190;23075627;23103389;23311301;23583979;23623143;23974038;8889548 10021 Q9Y3Q4 ABBA01038712;ABBA01038713;AC009660;AC068397;AJ132429;AJ238850;AMYH02030772;BM979827;BP291686;CH471082;DQ854814;JA696662;NG_009063;NM_005477 AAI56299;AAI72471;CAB42604;CAB52754;CCF23300;EAW77925;NP_005468;Q9Y3Q4 Hs.86941 1338672;1682517;1715607;1792612;1792614 D15S215;PMC155041P1;PMC155041P2;RH120947;RH92735 SSS2 OTTHUMP00000174871;hyperpolarization activated cyclic nucleotide-gated cation channel 4;hyperpolarization-activated, cyclic nucleotide-gated k+ 4;potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 APPROVED protein-coding ENSG00000138622 HGNC:16882 09240 163800;605206;613123 REVIEWED 1605218 HCP5P10 HLA complex P5 pseudogene 10 6 6 p21.3 31465083 31483100 + 29884702 29884990 + 10557312;10727083;12477932;7894158 352990 AB023057;AL645929;AL671561;AL845454;BA000025;BC035659;BC035828;BX284699;BX927141;CR388220;CT009496;CT009517;CU019528;NR_031762 Hs.662200 2220104 D6S2860 P5-10;P5.9 pseudo HGNC:30984 VALIDATED 1605973 HCN3 hyperpolarization activated cyclic nucleotide-gated potassium channel 3 This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 1 1 1 q22 128320546 128332814 + 155247218 155259639 + 155277427 155289848 + 6480464;8554872 10819331;12477932;12928435;14702039;15290763;15489334;15979128;16043489;16344560;16382102;16710414;19322201;21615589;23382386;9634236 57657 Q86WJ5;Q9P1Z3 AB040968;ABBA01016711;AF488550;AK055840;AK299333;AL713999;AMYH02001943;BC000066;BC028024;BC111364;CH471121;DA127524;JA696660;NM_020897;NR_073074;XM_005245374;XM_005276748 AAH00066;AAH28024;AAI11365;AAI56231;AAI57071;AAO49470;BAA96059;BAH13004;CCF23299;EAW53081;EAW53082;EAW53083;EAW53084;EAW53085;EAW53086;NP_065948;Q9P1Z3;XP_005245431;XP_005276805 Hs.706960 2127232 RH16325 KIAA1535;MGC131493 OTTHUMP00000034062;potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 APPROVED protein-coding ENSG00000143630 HGNC:19183 17093 609973 REVIEWED 1352692 HCP5P13 HLA complex P5 pseudogene 13 6 6 p21.3 31364255 31365366 - 29760911 29762023 - 10557312 353016 AL645939;AL671561;AL844851;BA000025;BX005428;BX927182;CR759769;CR788234;CR925767;NG_002740 J377H14.12;P5-13;P5.10;dJ377H14.12 pseudo HGNC:30977 PROVISIONAL 1344703 HCP5P14 HLA complex P5 pseudogene 14 6 6 p21.3 31341689 31344027 - 29738324 29740663 - 10557312 353018 AL645939;AL669813;AL844851;BA000025;BX005428;BX927182;CR759769;CR788234;CR925767;NG_002742 P5-14;P5.6;dJ377H14.13 pseudo HGNC:30976 PROVISIONAL 1349217 HCP5 HLA complex P5 (non-protein coding) INVOLVED IN defense response (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 6 6 6 p21.3 33028887 33031516 + 31430957 31433586 + 31463180 31465809 + 1580863;6480464 10199916;10553908;12477932;14702039;16344560;18369459;18684101;18982067;19050382;19115949;19483685;19851445;19935381;20041166;20534626;20559009;21051598;21084992;21510768;21801394;21832049;21860345;21912425;22493691;22589738;23665287;24322967;7894158;8462994;9799336 10866 Q6MZN7 ABBA01038075;AK093953;AK290875;AL645933;AL662866;AMYH02013452;BC106759;BC113853;BC114462;BX005439;BX640979;CH471081;CR753864;D88650;DA501560;L06175;NR_040662 AAA59986;AAI06760;BAF83564;CAE45991;EAX03398;EAX03399;EAX03400;Q6MZN7 Hs.691948 1776650;2117473;5493525 RH17599;RH46617;UniSTS:487045 6S2650E;D6S2650E;P5-1 HLA class I histocompatibility antigen protein P5;HLA complex protein P5;MHC class I region ORF;occurs in MHC class I region, ORF APPROVED ncrna ENSG00000206337 HGNC:21659 05245 604676 VALIDATED 1353649 HCP5P15 HLA complex P5 pseudogene 15 6 6 p21.3 31286446 31288779 - 29680372 29682705 - 10553908;10557312 353021 AL645939;AL669813;AL844851;BA000025;BX005428;BX927250;CR753818;CR759790;NG_002745 5017967 AluyHF_457(no_Alu) P5-15;P5.11;bPG170G13.1;dJ377H14.10 pseudo HGNC:21670 PROVISIONAL 1347531 HCP5P2 HLA complex P5 pseudogene 2 6 6 p21.3 31566986 31569233 - 29968782 29971028 - 10557312;20041166;7894158 352998 AB023056;AL645935;AL671277;BA000025;BX005091;BX927229;CR388205;CR759763;CR759943;NG_016109 P5-02;P5-2;P5.2 pseudo HGNC:21662 REVIEWED 1348560 HCP5P12 HLA complex P5 pseudogene 12 6 6 p21.3 31387136 31389495 - 29784009 29786368 - 10553908;10557312 353011 AL645939;AL671561;BA000025;BX001005;BX247949;BX927141;CR759769;CR788234;NG_002736 2220096 D6S2836 P5-12;P5.5;dJ377H14.11 pseudo HGNC:21671 PROVISIONAL 1344209 HCP5P3 HLA complex P5 pseudogene 3 6 6 p21.3 31514229 31515528 - 29916002 29917301 - 10557312;7894158 352997 AB023056;AF055066;AL645935;AL671277;BA000025;CR759913;NG_016108 P5-03;P5-3;P5.3 pseudo HGNC:23084 REVIEWED 1342635 HCP5P6 HLA complex P5 pseudogene 6 6 6 p21.3 31481640 31484002 - 29883530 29885892 - 10553908;10557312;7894158 352993 AB023056;AL645935;AL845454;AL928614;BA000025;BX005091;BX927141;CR388220;CR759913;NG_016010 P5-06;P5-6;P5.4;bPG8G10.1 pseudo HGNC:21660 REVIEWED 1349202 HCP5P8 HLA complex P5 pseudogene 8 p21.3 9177776 387508 D83771 P5-08 pseudo HGNC:30985 734418 HCRTR1 hypocretin (orexin) receptor 1 The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related gene (HCRTR2) encodes a G-protein coupled receptor that binds orexin A and orexin B. [provided by RefSeq, Jan 2009] 1 1 1 p33 30352534 30362141 + 32083290 32093214 + 31617686 31627613 + 728644;1580863;1642020;1642016;6480464 12890892;17299454;9491897 10973318;11283317;11340621;11443222;11723285;11856342;12477932;12690115;15070969;15611118;15797953;15978554;16157481;16282319;16344560;16754659;17089135;17999203;18198212;18450961;18714784;19058789;19086053;19118115;19464259;19661287;20002100;20398908;20468064;20621130;20728215;21071097;21318258;21344296;21378163;21510948;21666548;21908614;22028875;22389503;22550093;23034387;24268496;24530395;24910418;9419374;9491885;9527442 3061 A6NMV7;O43613 ABBA01023454;AC114488;AF041243;AF202084;AK290521;AMYH02000686;AX088174;AY062030;AY070269;BC035686;BC074796;CH471059;CO960455;DA803650;NM_001525;XM_005270790 AAC39601;AAG28020;AAH74796;AAL47214;AAL50221;BAF83210;CAC34687;EAX07600;EAX07601;EAX07602;NP_001516;O43613;XP_005270847 Hs.388226 2185109 SHGC-74525 OX1R;ox-1-R;ox1-R OTTHUMP00000003951;OTTHUMP00000003952;hypocretin receptor 1;hypocretin receptor type 1;hypocretin receptor-1;orexin receptor 1;orexin receptor type 1;orexin receptor-1 APPROVED protein-coding ENSG00000121764 HGNC:4848 03863 602392 REVIEWED 1351591 HCRTR2 hypocretin (orexin) receptor 2 The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq, Jan 2009] 6 6 6 p12 56700614 56808965 + 55039071 55147538 + 55106460 55282620 + 728644;1580863;1642020;1642016;6480464;8554872 12890892;17299454;9491897 10973318;10981966;11076863;11158046;11283317;11297593;11340621;11443222;11549701;11600545;11723285;11830291;12477932;15070969;15274044;15477554;15797953;15978554;16554494;16754659;17376114;17563843;17645762;17883525;18399985;18599270;18714784;19058789;19086053;19751316;19913121;20041166;20156195;20468064;20538960;20628086;21071097;21186399;21378163;21510948;21666548;22389503;23034387;23482607;24268496;24530395;24599460;9419374;9491885;9527442 3062 O43614;Q548Y0;S4X0W3 ABBA01050507;AF041245;AF202085;AF202086;AF202087;AF202088;AF202089;AF202090;AF202091;AK307819;AK314279;AL449104;AL591718;AMYH02013766;AMYH02013767;AY062031;BC035858;CH471081;EF633107;EF633108;EF633109;EF633110;KC812499;KC812500;NG_012447;NM_001526;XM_006715074 AAC39602;AAG28021;AAI11377;AAL47215;ABR23648;ABR23649;ABR23650;ABR23651;AGP04116;AGP04117;BAG36939;EAX04440;NP_001517;O43614;XP_006715137 Hs.151624;Hs.699147 1337791;1726351;1777470;7183728 D6S294;G62476;SHGC-58112 OX2R;ox-2-R;ox2-R OTTHUMP00000017762;hypocretin receptor type 2;orexin receptor type 2;orexin type-2 receptor APPROVED protein-coding ENSG00000137252 HGNC:4849 08374 602393 REVIEWED 1346273 HCVS human coronavirus sensitivity ASSOCIATED WITH Coronaviridae Infections (inferred) 7240710 6285532 3063 HGNC:4850 122460 731040 HCRT hypocretin (orexin) neuropeptide precursor This gene encodes a hypothalamic neuropeptide precursor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orphan G-protein coupled receptors HCRTR1 and HCRTR2, function in the regulation of sleep and arousal. This neuropeptide arrangement may also play a role in feeding behavior, metabolism, and homeostasis. [provided by RefSeq, Jan 2010] 17 17 17 q21 36990305 36991697 - 40336078 40337470 - 42184060 42185452 - 1298943;728644;1358428;1358427;1358429;1358430;1600922;1600925;1600933;1600936;704404;1600919;1600923;1600935;1600932;1580863;1642016;1642020;6480464;7240710;8554872;8699517 10973318;11148249;11723284;12217430;12535169;12560202;12890892;15128861;15613151;15623725;15627867;15970339;16135994;17299454;9419374;9491897 10364220;10583376;11076863;11283317;11340621;11854267;12414876;12477932;12609745;12732338;12873798;15070969;15978554;15985489;16008971;16124668;16157481;16202475;16338760;16429482;16754659;17376528;17576097;17868933;18006690;18450961;18498421;18505777;19058789;19158946;19193897;19383226;19460850;19549926;19847903;19874574;19922146;20003098;20116928;20129934;20193740;20305645;20468064;20531237;20595012;20655364;20854137;21056546;21071097;21186399;21371780;21464433;21546124;21621370;21765621;21823139;21908614;21945150;21978722;22028875;22207004;22302634;22575905;22696207;22846875;22889404;23034387;23350701;23406753;23462990;23509980;23569032;23643651;23667582;23813609;24172541;24250222;24334931;24353159;24400115;24599460;9491885;9527442 3060 O43612 ABBA01006434;AC099811;AF041240;AF118885;AMYH02033428;CH471152;NG_011448;NM_001524 AAC39600;AAD24459;AAI11916;EAW60810;NP_001515;O43612 Hs.158348 5492465;5492911 UniSTS:481182;UniSTS:483216 NRCLP1;OX;PPOX orexin;prepro-orexin APPROVED protein-coding ENSG00000161610 HGNC:4847 03836 161400;602358 REVIEWED 1320330 HDAC1 histone deacetylase 1 Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq, Jul 2008] 1 1 1 p34 31028175 31069691 + 32757708 32799227 + 32292107 32333623 + 1580863;2306215;2306216;2306200;2306214;2306218;2306205;2306219;2316155;6480464;6484113;6907045;2311214;9585661;9104959 15042618;15590418;16172792;17387270;18212746;18464933;18714364;19147762;19450511;21151613;24880148 10049357;10199400;10204490;10220385;10220405;10228159;10357820;10403782;10409740;10444591;10471499;10471500;10487760;10490602;10491605;10499802;10521394;10531300;10545197;10575014;10581039;10611298;10615135;10640275;10655483;10669754;10688671;10704340;10734134;10737769;10777477;10778858;10779361;10840944;10846170;10873456;10888618;10888886;10898795;10904264;10933397;10944117;10958676;10958684;10969803;10983972;10995736;11006275;11013263;11022042;11046157;11062478;11099047;11101889;11102443;11118440;11136718;11146623;11158299;11171972;11226163;11238380;11238932;11259576;11266540;11279209;11283259;11283269;11285237;11287616;11287668;11297506;11302704;11306568;11313951;11319226;11327722;11331609;11350943;11390640;11427533;11430826;11438660;11447271;11466315;11470869;11486045;11517158;11532945;11533236;11552981;11553631;11564889;11568182;11583987;11585818;11593411;11602581;11641274;11641275;11684023;11739383;11749695;11756549;11777905;11784859;11788710;11804585;11836251;11839806;11850410;11855854;11863372;11865059;11867749;11884454;11896613;11909966;11919195;11929879;11931768;11931769;11940654;11959842;11960997;11994312;12015309;12015313;12032081;12032298;12045192;12052894;12082111;12082639;12087472;12091390;12124384;12150997;12176973;12177302;12183469;12192000;12198164;12198165;12200149;12202768;12242305;12242670;12354758;12370815;12371150;12374985;12393750;12393887;12398767;12419806;12426395;12435627;12450794;12453419;12464179;12466959;12473678;12477932;12482978;12493763;12529400;12535528;12567184;12574125;12579268;12586827;12590135;12612053;12634383;12659862;12665568;12665570;12670868;12697811;12700765;12705869;12711221;12711603;12724404;12730668;12788099;12789259;12808109;12821938;12829790;12847090;12890497;12904571;12920132;12943729;12947414;12972430;13679859;14506250;14506733;14530259;14559791;14578449;14593184;14612411;14633989;14637159;14645126;14645718;14647463;14668799;14670976;14673164;14678988;14691252;14699069;14722073;14752048;14968110;14976551;14981544;14988403;15003538;15016876;15044952;15051733;15060175;15077161;15120635;15136563;15138260;15140878;15148359;15155736;15173318;15192014;15194748;15199155;15207703;15235594;15273251;15297431;15298701;15316101;15325272;15333839;15361834;15388328;15451426;15454082;15454570;15456747;15467736;15469820;15485920;15489334;15509593;15520282;15528196;15536134;15542849;15557281;15561714;15592455;15615716;15619633;15635413;15640443;15653507;15668237;15674334;15688037;15695521;15701600;15710329;15711539;15713621;15713622;15713663;15722551;15735762;15775975;15826950;15829968;15831498;15831516;15835920;15870198;15897453;15899845;15919722;15927959;15935060;15970276;15987735;16024608;16079794;16082198;16085498;16091750;16107708;16107876;16121030;16140033;16147992;16166625;16169070;16186112;16195230;16196087;16197452;16204234;16204248;16217013;16287849;16288017;16288053;16306601;16319923;16331260;16337145;16374504;16377629;16387653;16407282;16407974;16428440;16464847;16478997;16481466;16481475;16483679;16511565;16528103;16537907;16540471;16565076;16569215;16611996;16630892;16645043;16649994;16651408;16652147;16697957;16699503;16728531;16728974;16731528;16734381;16738318;16762839;16766265;16787918;16820529;16838299;16865259;16870149;16914725;16914734;16919237;16959611;16960727;16963455;16964284;16982778;17000776;17005678;17008050;17022812;17056544;17074803;17081983;17158748;17172643;17182846;17239852;17245431;17255935;17273746;17304221;17311813;17312152;17314511;17318229;17353187;17353261;17369852;17371797;17371848;17373667;17389244;17395887;17412698;17452459;17468742;17470557;17474147;17487425;17540176;17548428;17573780;17609203;17620012;17630394;17634443;17636019;17643391;17663720;17670825;17707923;17786334;17827154;17850504;17894944;17895379;17897615;17906119;17910034;17922035;17923479;17932104;17934516;17935135;17938259;17961987;17962807;17967891;17980157;17996965;18003922;18004079;18029348;18037904;18059533;18067919;18093978;18156491;18172012;18182442;18193082;18206970;18241676;18245468;18271930;18316616;18326024;18333962;18342621;18347167;18362831;18372343;18391013;18408217;18413351;18439917;18451880;18485871;18501190;18552382;18585351;18588874;18619497;18634613;18644863;18644983;18671804;18708058;18722353;18765668;18781797;18789002;18806873;18822204;18850004;18850007;18851995;18854154;18854353;18936100;18948152;18974119;19011633;19015268;19029947;19041848;19049980;19061646;19062177;19064572;19070599;19081374;19081376;19099586;19101520;19124609;19166851;19182791;19218564;19235719;19244234;19252524;19339282;19339613;19343227;19351825;19383825;19394292;19416910;19424621;19433865;19438744;19454010;19471022;19497860;19503603;19505873;19531758;19561124;19561196;19581286;19581932;19617623;19644445;19648967;19683447;19686092;19703393;19729656;19738201;19738286;19740981;19759913;19786833;19793920;19800870;19801684;19802013;19819149;19819974;19822520;19828482;19855430;19912635;19995069;20001970;20022962;20037577;20037816;20049841;20072153;20075864;20081843;20124407;20127688;20144149;20154723;20185822;20331966;20332121;20360311;20379614;20385359;20388487;20398369;20400511;20415600;20438716;20464640;20471948;20473547;20478393;20484017;20498639;20508642;20523938;20561418;20562920;20585571;20585871;20590529;20596014;20603076;20609223;20613874;20633551;20680269;20693977;20702731;20731616;20802485;20821348;20856864;20935208;20967026;20972266;21030595;21045206;21059642;21081666;21106524;21108932;21123453;21127047;21139048;21143702;21148070;21151932;21176959;21179169;21179472;21182205;21184735;21252314;21258344;21262769;21262773;21293853;21301206;21344388;21420382;21423269;21438903;21454521;21455583;21457345;21466904;21502505;21527555;21532573;21549307;21565167;21566081;21566083;21617866;21622623;21636851;21637537;21638299;21661415;21666599;21669392;21669397;21670149;21685935;21693764;21718540;21725353;21725604;21846774;21890473;21900881;21906983;21907836;21937684;21952639;21957129;21963094;21972094;21972143;21974802;21982637;21983014;21987572;21988832;21996064;22028823;22036763;22037263;22053931;22056872;22075476;22077140;22100169;22113938;22114073;22116549;22143567;22156779;22180294;22184063;22211246;22222205;22242125;22266186;22274925;22286234;22325352;22344732;22355045;22393235;22411829;22416134;22419072;22439931;22496786;22498736;22505724;22542627;22641068;22689669;22733990;22750444;22778253;22796363;22797919;22822071;22863883;22865885;22879913;22926524;22927334;22939629;22939983;22972034;22982681;22989952;23000965;23011797;23014989;23022380;23060449;23104175;23110995;23140481;23185513;23217559;23242655;23246564;23251689;23280436;23362263;23437037;23443559;23563092;23612983;23621261;23677067;23690335;23708667;23714156;23752268;23791785;23803414;23898169;23926105;23932364;23939379;24015760;24036913;24051437;24058639;24068740;24086750;24116224;24176859;24190971;24307847;24316511;24344198;24457600;24475290;24550390;24654937;24816145;24821727;24840043;25027693;25086032;7760804;8125298;8289393;8602525;8602529;8646880;9150133;9150134;9150135;9346952;9371597;9468139;9468140;9486654;9491888;9520398;9611234;9627120;9650586;9651585;9694793;9722949;9724731;9753732;9765306;9790534;9804427;9819405;9858615;9885572;9988677 3065 Q13547;Q5TEE2;Q6IT96 AB451297;AB451430;ABBA01023430;ABBA01023431;AK225555;AK296308;AK299241;AK299792;AK313061;AL109945;AMYH02000710;AY627042;BC000301;BX648055;CH471059;CR541717;D50405;NM_004964;U50079 AAC50475;AAH00301;AAT44863;ABM82324;ABM85503;BAA08909;BAG61272;BAG61671;BAG70111;BAG70244;BAH12310;CAG46518;CAI46269;EAX07540;EAX07541;NP_004955;Q13547 Hs.88556 1682365;1729173;2135303;2182946;2217412;5111530;5113605 HDAC1_3209;RH48422;RH64844;RH70655;RH77985;RH80765;WI-8367 DKFZp686H12203;GON-10;HD1;RPD3;RPD3L1 OTTHUMP00000008745;reduced potassium dependency, yeast homolog-like 1 APPROVED protein-coding ENSG00000116478 HGNC:4852 03143 601241 REVIEWED 1314168 HDAC10 histone deacetylase 10 The protein encoded by this gene belongs to the histone deacetylase family, members of which deacetylate lysine residues on the N-terminal part of the core histones. Histone deacetylation modulates chromatin structure, and plays an important role in transcriptional regulation, cell cycle progression, and developmental events. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 22 22 22 q13.31 34558514 34564737 - 50683612 50689834 - 50245183 50251405 - 1580863;6480464;9104959 21151613 10591208;11677242;11726666;11739383;11861901;12477932;14578343;14670976;14759258;15305372;15461802;15489334;17172643;17892858;19913121;20032463;20471694;20628086;20680488;21247901;22505724;22730529;22989952;23752268;23801752;23897811;24145760;8889548 83933 C9J8B8;Q08AP5;Q969S8 ABBA01011379;ABBA01011380;AF393962;AF407272;AF407273;AF426160;AL022328;AL512711;AMYH02038601;AMYH02038602;AY450395;BC032049;BC032423;BC094734;BC125082;BC125083;BI916349;BM983038;CA424576;CH471138;CR456465;NG_029758;NM_001159286;NM_032019 AAI25083;AAI25084;AAK84023;AAK92205;AAK92206;AAL30513;AAS48345;CAC21653;CAG30351;CAK54446;CAK54745;EAW73511;EAW73512;EAW73513;EAW73514;EAW73515;EAW73516;EAW73517;EAW73518;EAW73519;EAW73520;NP_001152758;NP_114408;Q969S8 Hs.26593 1677802;2155175 RH65991;WI-14130 DKFZp761B039;HD10;MGC149722 OTTHUMP00000042162;OTTHUMP00000196674;OTTHUMP00000196675;OTTHUMP00000197621 APPROVED protein-coding ENSG00000100429 HGNC:18128 09407 608544 REVIEWED 6481308 HDAC11-AS1 HDAC11 antisense RNA 1 3 p25.1 13476987 13480050 - 100874101 ABBA01025173;AC027124;AMYH02006315;BX104155;NR_046690;XR_425598;XR_427314;XR_431565 Hs.535701 APPROVED ncrna ENSG00000244502 HGNC:40868 VALIDATED 7241749 HDAC1P1 histone deacetylase 1 pseudogene 1 10 10 10 q23.33 89637644 89638895 + 95897507 95898758 + 94137750 94139001 + 100419595 ABBA01021862;AL389885;AMYH02023569;NG_025534 pseudo HGNC:45190 INFERRED 7241616 HDAC1P2 histone deacetylase 1 pseudogene 2 1 1 1 194018552 194020257 + 220799082 220800787 + 220625740 220627445 + 100419489 ABBA01048073;AC096640;AL592406;AMYH02002732;NG_027210 pseudo HGNC:45191 INFERRED 1323302 HDAC11 histone deacetylase 11 This gene encodes a class IV histone deacetylase. The encoded protein is localized to the nucleus and may be involved in regulating the expression of interleukin 10. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009] 3 3 3 p25.1 13459987 13486185 + 13521671 13547924 + 13480171 13506424 + 1580863;6480464;9104959 21151613 11076863;11256614;11948178;12477932;12711221;14702039;15489334;15489336;16121216;16142391;16169070;16344560;16381901;17201809;17230502;18413790;19011628;19088734;19276081;20467334;20881960;20980834;21239696;21806350;21900206;21906983;23000965;23024001;23752268 79885 B5MC52;B5MCQ6;B5MCS3;B5MCU6;B5MCV5;B5MD06;C9J2I7;C9J528;C9JBI4;C9JEC8;C9JMH0;E7ETT9;F5H6R5;F8WF94;Q658J9;Q96DB2 ABBA01025173;AC027124;AK025426;AK025890;AK293223;AK299021;AL137362;AL834223;AMYH02006315;AW291816;BC009676;BG708402;CH471055;CR457341;DB025431;DB556939;NM_001136041;NM_024827;XM_005265491;XM_005265492;XM_005265493;XM_006713338 AAH09676;BAB15127;BAB15272;BAG56762;BAG61100;CAB70712;CAG33622;CAH56375;CAL37920;CAL38700;EAW64157;EAW64158;EAW64159;EAW64160;EAW64161;EAW64162;EAW64163;EAW64164;EAW64165;EAW64166;EAW64167;EAW64168;EAW64169;NP_001129513;NP_079103;Q96DB2;XP_005265548;XP_005265549;XP_005265550;XP_006713401 Hs.744132 1685429;1776020;2154966 RH92585;SHGC-32699;SHGC-76731 FLJ22237;HD11 OTTHUMP00000160231;OTTHUMP00000197639;OTTHUMP00000197644;OTTHUMP00000197649;OTTHUMP00000208001;OTTHUMP00000209466;OTTHUMP00000226982 APPROVED protein-coding ENSG00000163517 HGNC:19086 09146 607226 REVIEWED 1350033 HCST hematopoietic cell signal transducer This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 33107573 33109364 + 36393382 36395173 + 35902480 35904271 + 1580863;6480464 10426994;10528161;11015446;11239445;11398969;12426564;12426565;12477932;12740575;12975309;15048706;15294961;16339517;19075187;19322201;19329438;21263069;21706044;21789015;21816829;22438812;22505724 10870 Q9UBK5 ABBA01018772;AD000864;AF072844;AF072845;AF122904;AF172929;AF285447;AL050163;AMYH02035995;AY359058;BC035931;BC046348;BC065224;NG_009304;NM_001007469;NM_014266 AAD46986;AAD46987;AAD47911;AAD50293;AAG29425;AAH35931;AAH46348;AAH65224;AAQ89417;CAB43303;NP_001007470;NP_055081;Q9UBK5 Hs.117339 1739661;2139518;5092814 A006G29;D19S844E;G32347 DAP10;DKFZP586C1522;KAP10;PIK3AP DNAX-activation protein 10;OTTHUMP00000045811;kinase assoc pro of ~10kDa;kinase assoc protein;membrane protein DAP10;phosphoinositide-3-kinase adaptor protein;transmembrane adapter protein KAP10 APPROVED protein-coding ENSG00000126264 HGNC:16977 04971 604089 REVIEWED 731326 HDAC3 histone deacetylase 3 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008] 5 5 5 q31 137077171 137093151 - 141000443 141016423 - 141620876 141636856 - 1580863;2306215;2306214;2306205;6480464;9104959 17387270;18212746;18714364;21151613 10051405;10220385;10490602;10575214;10581039;10655483;10669754;10777477;10809664;10860984;10869435;10898795;10944117;10958676;10983972;11006275;11013263;11022042;11046157;11259576;11302704;11439334;11463856;11466315;11470869;11486036;11509652;11533236;11533489;11567998;11641274;11641275;11777905;11779848;11788710;11804585;11861901;11867539;11867749;11889044;11923873;11931768;12015313;12032081;12048199;12150997;12205093;12239342;12242670;12371150;12393887;12403844;12419806;12477932;12479814;12502735;12535528;12590135;12628926;12711221;12853483;12861000;12943985;12972430;14521922;14525983;14527417;14668799;14684825;14722073;15016912;15051733;15140878;15184363;15192014;15292260;15297880;15333839;15356147;15467736;15469820;15489334;15494311;15558026;15561719;15572445;15601853;15619633;15653507;15711539;15713663;15761026;15805470;15831498;15831516;15832170;15835920;15837933;15917248;15927959;16022908;16033423;16055724;16129885;16186112;16195251;16204234;16227606;16249187;16288017;16298343;16371367;16432238;16469706;16481466;16481475;16528103;16532030;16537907;16569215;16652147;16712523;16730330;16820529;16847267;16849648;16865259;16917504;16919237;16924111;16943425;16980585;16987993;17007107;17008592;17015477;17053781;17075044;17079677;17101790;17126328;17141982;17158926;17172643;17182846;17227585;17242407;17245431;17255935;17273746;17311813;17353931;17620012;17621263;17675290;17699109;17786334;17849419;17873065;17895379;17908689;17910034;17925399;17956871;17970752;18037959;18097041;18202150;18241676;18245468;18321663;18326024;18347167;18377363;18403372;18417529;18439917;18483244;18523274;18542060;18558095;18585351;18619497;18655026;18667423;18769117;18789002;18832068;18854353;18940814;18948102;19015268;19032343;19081374;19099586;19121623;19204783;19244234;19279113;19341714;19453261;19463978;19583777;19738286;19855430;19912635;19956841;19995069;20026773;20049841;20200160;20211142;20385135;20415600;20471694;20473547;20484017;20534529;20547759;20563766;20691163;20705923;20731616;21030595;21059642;21081493;21081666;21139048;21143702;21179472;21206745;21258344;21262769;21324898;21346816;21444723;21453528;21527249;21532573;21549311;21624135;21637537;21670149;21685935;21868449;21884981;21972094;22002311;22027828;22116549;22190034;22190037;22230954;22294699;22337871;22349439;22363205;22455388;22508987;22641068;22647876;22649097;22651256;22685561;22730529;22763818;22796363;22797925;22939629;22989952;23079660;23395002;23402757;23615070;23667531;23685192;23752268;23760262;23857786;23879963;23904210;24045946;24120624;24250222;24324066;24419085;24449765;24482232;24654937;24760274;24821727;24943844;9346952;9360932;9464271;9501169;9722949 8841 E7ESJ6;E7EW19;O15379 ABBA01026405;ABBA01026406;ABBA01026407;AC008781;AF005482;AF039703;AF053137;AF053138;AF053139;AF059650;AMYH02012347;AY429537;AY429538;BC000614;BM461585;CH471062;DB456387;KC877130;KF458019;NG_029678;NM_003883;U66914;U75696;U75697;XM_006714802 AAB87752;AAB88240;AAB88241;AAC08351;AAC08352;AAC26509;AAC52038;AAC98927;AAH00614;ABM82842;ABM86027;EAW61915;EAW61916;EAW61917;EAW61918;NP_003874;O15379;XP_006714865 Hs.519632 1666713;1770166;1797678;2159368;2164114 A007C33;HDAC3_1724;HSC11A022;SGC30748;SGC33638 HD3;RPD3;RPD3-2;SMAP45 OTTHUMP00000160029 APPROVED protein-coding ENSG00000171720 HGNC:4854 08950 605166 REVIEWED 1312509 HDAC2 histone deacetylase 2 This gene product belongs to the histone deacetylase family. Histone deacetylases act via the formation of large multiprotein complexes, and are responsible for the deacetylation of lysine residues at the N-terminal regions of core histones (H2A, H2B, H3 and H4). This protein forms transcriptional repressor complexes by associating with many different proteins, including YY1, a mammalian zinc-finger transcription factor. Thus, it plays an important role in transcriptional regulation, cell cycle progression and developmental events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 6 6 6 q21 114998693 115033733 - 114257320 114292359 - 113936156 113971195 - 1580863;2306214;2306215;2306200;2306205;6480464;6484113;6907045;9585661;8554872;9104959 17387270;18212746;18714364;19147762;21151613;24880148 10204490;10220405;10357820;10444591;10471499;10471500;10490602;10508171;10545197;10581039;10644367;10669754;10713181;10766745;10777477;10888872;10904264;10933397;10958685;11003653;11013263;11022042;11062478;11101889;11102443;11118440;11146623;11171972;11238380;11259576;11279209;11283269;11287668;11297506;11302704;11331609;11395507;11466315;11486036;11532945;11533236;11564889;11583987;11593423;11641274;11641275;11739383;11756549;11777905;11779848;11784859;11788710;11804585;11836251;11850410;11867749;11884454;11919195;11923873;12007404;12015313;12032298;12082111;12091390;12124384;12138131;12140263;12151407;12176973;12183469;12192000;12198164;12198550;12354758;12371150;12374985;12393887;12398767;12402037;12403844;12419806;12431981;12453419;12477932;12493763;12527756;12567184;12586827;12626569;12634383;12639951;12670868;12682367;12697811;12700765;12705869;12711221;12711603;12724404;12788942;12829790;12920132;12943729;12947414;12972430;12975471;14512427;14559791;14559996;14574404;14673164;14702039;14749338;14752048;14966270;14976551;14981544;15016876;15051733;15060175;15120635;15138260;15140878;15140983;15144953;15146197;15297431;15325272;15342556;15361834;15388328;15451426;15456747;15456770;15467736;15489334;15522123;15536134;15561714;15619633;15635413;15653507;15665816;15701600;15713621;15713663;15775975;15831498;15831516;15927959;15934135;15935060;15987735;16036112;16079794;16082198;16091750;16107708;16204234;16217013;16252006;16254079;16288017;16288053;16387653;16407974;16410616;16449650;16464847;16469430;16481466;16537907;16540471;16565220;16595694;16642021;16800816;16820529;16919237;16951198;16963455;17043312;17081983;17245431;17250953;17287852;17311813;17312152;17314511;17318229;17322895;17353261;17468742;17474147;17546044;17548428;17573780;17604723;17620599;17671180;17707228;17786334;17827154;17894944;17922035;17935135;17967884;17967891;17991736;18029348;18059533;18067919;18073335;18156491;18172012;18182442;18212045;18241676;18245468;18247557;18264134;18316616;18347167;18391013;18408217;18439917;18501190;18625718;18644863;18671804;18708058;18754010;18781797;18806873;18834886;18851967;18950845;19010907;19015268;19041327;19041848;19061646;19064572;19081374;19088080;19099586;19124506;19124609;19139378;19155214;19182791;19218564;19244234;19276356;19322201;19339282;19343720;19372552;19383825;19394292;19410558;19411311;19416910;19433865;19438744;19446037;19454010;19486889;19497860;19505873;19531758;19561124;19561196;19581932;19644445;19686092;19703393;19706751;19724929;19729656;19740981;19754958;19759913;19793920;19801684;19802013;19822520;19880520;19881542;19912635;19913121;19935709;19995069;20065107;20071335;20081843;20124407;20127688;20133912;20164337;20178884;20185822;20190809;20195357;20211142;20331966;20332121;20346000;20360068;20388229;20388487;20398369;20398657;20415600;20421305;20460684;20467334;20467438;20471948;20473547;20523938;20534591;20585871;20596014;20628086;20651739;20697349;20714342;20716118;20731616;20802485;20833366;20972266;20972425;21081493;21139048;21143702;21159880;21182205;21252119;21252314;21258344;21290163;21315782;21317427;21320471;21344396;21383775;21453528;21527555;21532573;21540836;21549307;21576649;21670149;21685935;21725353;21890473;21906983;21907836;21937684;21946536;21957129;21963094;21972094;21987499;21987572;22005302;22005560;22016339;22037263;22053931;22079093;22113938;22132221;22156779;22214847;22286234;22325352;22344732;22388814;22416134;22439931;22457607;22492270;22493095;22498736;22505724;22555612;22586326;22641068;22733990;22798432;22926524;22932408;22932458;22939629;22944197;23000965;23110995;23175521;23195070;23242568;23251689;23275209;23280436;23440245;23499894;23544610;23554474;23612983;23615070;23708667;23714156;23717666;23752268;23831020;23857786;23891737;23926105;23939379;23975430;24030221;24218540;24250222;24448241;24457600;24616922;24816145;24833798;24965412;8917507;9016636;9150134;9150135;9346952;9520398;9651585;9722949;9782097;9790534;9804427;9874765;9885572 3066 E5RFI6;E5RFP9;E5RG37;E5RGV4;E5RH52;E5RHE7;E5RJ04;E5RK19;H3BM24;Q92769 AA704179;AB209190;ABBA01026063;AK092156;AK097376;AK296856;AL590398;AMYH02014333;AV719958;BC013141;BC031055;BM550464;BP201509;CH471051;CN304190;CN315003;FO393415;NM_001527;NR_033441;NR_073443;U31814 AAC50814;AAH31055;AAI46377;AAI48798;BAD92427;BAG52487;BAG53457;BAG59420;EAW48252;EAW48253;EAW48254;EAW48255;NP_001518;Q92769 Hs.3352 1691382;2177239;5015861;5022578;5037552;5118576;7185938 D10S16;D11S3430;D1S1423;D8S2279;G42073;STS-N62138 HD2;RPD3;YAF1 OTTHUMP00000017046;OTTHUMP00000227077;OTTHUMP00000227078;YY1-associated factor 1;transcriptional regulator homolog RPD3 APPROVED protein-coding HGNC:4853 05521 605164 REVIEWED 1316832 HDAC4 histone deacetylase 4 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 233665663 234017808 - 239969864 240323346 - 239048168 239401020 - 1580863;6480464;7241019;7240710;8699517;8554872;9104959 21151613;21255680 10206986;10220385;10487761;10523670;10640275;10748098;10825153;10860984;10869435;10898795;10944117;10958686;10983972;11022042;11081517;11114188;11114197;11279209;11451954;11463856;11466315;11470791;11474199;11486037;11504882;11509652;11509672;11568182;11792813;11804585;11929873;12015313;12032081;12205093;12242305;12421765;12477932;12535528;12590135;12663674;12668657;12709441;12711221;12917325;12943985;14668799;15075374;15138260;15161933;15184363;15194749;15205465;15324660;15467736;15536134;15537544;15619633;15743821;15778465;15829968;15964851;15990875;16033423;16051668;16061479;16082198;16147992;16166628;16204248;16221676;16236793;16288017;16332688;16356933;16415175;16528103;16613856;16767219;16919237;16922677;16951198;16955485;16980613;17011572;17158926;17179159;17210713;17218271;17283066;17360518;17371797;17373667;17379597;17383980;17470459;17491593;17610967;17636017;17646162;17696781;17885209;17910034;17949687;17975112;17979178;18045992;18163532;18227124;18250163;18332106;18339811;18501190;18555775;18558095;18614528;18632985;18691969;18780762;18850004;18952052;19013255;19015268;19071119;19115247;19218564;19276356;19281832;19322201;19355988;19389706;19509297;19608861;19648967;19679847;19700647;19716643;19893013;19913121;19950203;19956841;20079608;20097749;20110259;20116378;20159555;20211142;20301337;20383178;20471694;20628086;20691407;20846395;20936779;21118993;21148070;21242980;21464227;21542139;21571862;21832049;21837748;21917920;21946350;21988832;22466704;22649097;22693459;22700976;22730529;22826225;22989952;23149916;23188045;23284291;23297420;23349832;23364788;23393134;23417673;23434587;23444366;23453885;23456936;23752268;23817620;23824486;23948281;24043307;24079712;24086512;24216484;24250222;24255178;24308964;7847374;8619474;9110174;9139815;9150131;9179496 9759 B7Z8G5;C9J0X4;C9J481;F5GX36;F5H0B1;H7BZT3;H7C397;P56524;Q86YH7 AB006626;ABBA01033515;ABBA01033516;ABBA01033517;ABBA01033518;ABBA01033519;ABBA01033520;ABBA01033521;ABBA01033522;ABBA01033523;ABBA01033524;AC017028;AC062017;AF070607;AF132607;AI199675;AI654062;AK302719;AK303368;AK303467;AK303617;AK308791;AK310488;AK310603;AK311582;AMYH02006079;AMYH02006080;AMYH02006081;AMYH02006082;AMYH02006083;AMYH02006084;BC039904;BQ576173;CH471063;KF510800;KF510801;NG_009235;NM_006037;XM_006712877;XM_006712878;XM_006712879;XM_006712880 AAD29046;AAH39904;AAX93070;AAX93254;BAA22957;BAH13789;BAH13951;BAH13968;BAH13999;EAW71165;EAW71166;NP_006028;P56524;XP_006712940;XP_006712941;XP_006712942;XP_006712943 Hs.20516 1677702;1694746;1716525;1734722;1783938;1788972 D2S1512E;G43575;G65562;RH121548;RH98233;SHGC-112006 AHO3;BDMR;HA6116;HD4;HDAC-4;HDAC-A;KIAA0288 HDACA;OTTHUMP00000164483;histone deacetylase A APPROVED protein-coding ENSG00000068024 HGNC:14063 05610 600430;605314 REVIEWED 1351463 HDAC6 histone deacetylase 6 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. [provided by RefSeq, Jul 2008] X X X p11.23 52980148 53003041 - 48660086 48683408 + 48801679 48824976 + 1580863;2306200;6480464;8699517;7240710;9104959 19147762;21151613 10048485;10220385;10898795;11474198;11533236;11677242;11689694;11861901;11948178;12024216;12032081;12354939;12391164;12477932;12486003;12535528;12606581;12620231;12718889;12792815;14670976;14675537;14702039;14743216;15102857;15171253;15302935;15347674;15467736;15469820;15501975;15806142;15831498;15831516;15835920;15916966;15937109;15937340;15976449;16082198;16148047;16186112;16192271;16288017;16738306;16919237;16951198;16964243;17389687;17474147;17512543;17516032;17588522;17604723;17643370;17846173;17851643;18029348;18079183;18247557;18316616;18356165;18413721;18499657;18568448;18591380;18606987;18636984;18644987;18671804;18697214;18781140;18781797;18794144;18852123;18996840;19033385;19036992;19158084;19167333;19228685;19321449;19344692;19383825;19438744;19596000;19737819;19744931;19805354;19855091;19893491;19910924;19913121;19961433;20008322;20018896;20029029;20102703;20129057;20133936;20159555;20181727;20308065;20360068;20371724;20593489;20628086;20696758;20720006;20837465;20970878;21044318;21076528;21082217;21090589;21103663;21139048;21220424;21235576;21284752;21340680;21377170;21421902;21455583;21486957;21532619;21562571;21690293;21699378;21847094;21847364;21900206;21906983;21949397;21952047;21988832;22022450;22069321;22089141;22124372;22174839;22193721;22238643;22334690;22367689;22367781;22372633;22375943;22384180;22392728;22464548;22492994;22504143;22589388;22645275;22674379;22678362;22766642;22778253;22792322;22797925;22936009;22952844;22955928;22957056;22967444;22989952;22994762;23010497;23076141;23084749;23152903;23159615;23181831;23258539;23370327;23402884;23405166;23487739;23580651;23618908;23621219;23634874;23698468;23703321;23723075;23727580;23752268;23770849;23798680;23824909;23962722;23974956;24023063;24025866;24035499;24086678;24089523;24146251;24200693;24216476;24220335;24255178;24308962;24474778;24561123;24654937;24685680;24687993;24795145;24816145;24882211;25070956;9139815;9150131 10013 A6NDI8;B4DZH6;C9J172;C9JEF4;E7EP63;E7EPS2;E7ER52;E9PEH1;H7C0Z9;Q9UBN7 AB020708;ABBA01046064;ABBA01046065;ABBA01046066;ABBA01046067;ABBA01046068;AC231533;AF132609;AF174499;AF196971;AJ011972;AK001543;AK024083;AK095124;AK122954;AK127118;AK131286;AK295884;AK302926;AK303012;AK309058;AL137696;AMYH02039308;AX938946;BC005872;BC011498;BC013219;BC013737;BC069243;BT006649;CH471224;NG_012560;NM_006044;XM_005272564;XM_005272565;XM_005272566;XM_005272568;XM_006724525;XR_246712 AAD29048;AAF36540;AAH05872;AAH11498;AAH13737;AAH69243;AAP35295;ADZ15546;BAA74924;BAG50935;BAG51263;BAG52988;BAG53817;BAG54760;BAG58680;BAG64088;BAG64143;CAA09893;CAB70878;CAF04396;EAW50744;EAW50745;EAW50746;EAW50747;EAW50748;NP_006035;Q9UBN7;XP_005272621;XP_005272622;XP_005272623;XP_005272625;XP_006724588 Hs.6764 1653963;1655978;1850148;2155999;5037552 1916;A002Y02;D8S2279;DXS6992E;WI-8811 CPBHM;FLJ16239;HD6;JM21;PPP1R90 OTTHUMP00000032398;OTTHUMP00000197663 APPROVED protein-coding ENSG00000094631 HGNC:14064 02228 300272;300863 REVIEWED 1604649 HDAC5 histone deacetylase 5 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21 38862215 38909110 - 42154121 42201014 - 44076753 44123646 - 6480464;7241019;8554872;9104959 21151613;21255680 10220385;10640275;10737771;10748098;10860984;10869435;10898795;10983972;11018260;11022042;11081517;11114197;11279209;11466315;11509672;11567998;11641275;11804585;11929873;11931768;12007404;12015313;12019172;12150997;12168954;12242305;12354939;12477932;12626519;12711221;12896970;12917325;14668799;14702039;15060175;15111488;15138260;15140878;15146197;15184363;15194749;15367659;15467736;15489334;15491607;15536134;15546868;15572669;15590418;15619633;15728188;15829968;15831498;15831516;15964851;15990875;16147992;16166628;16169070;16221676;16236793;16356933;16528103;16613856;16678093;16767219;16822951;16919237;16980613;17011572;17075044;17373667;17379597;17403666;17873065;17949687;17975112;18029348;18184930;18216015;18218981;18245468;18288090;18292392;18332106;18332134;18339811;18632988;18768922;18951085;19071119;19351956;19666599;19801982;19893013;19913121;20042720;20188095;20211142;20628086;20716686;21047791;21048031;21081666;21146494;21413932;21508384;22243750;22301920;22462548;22649097;22730529;22914591;22941650;22989952;22991226;23256157;23297420;23326349;23364788;23393134;23443559;23615070;23729589;23752268;23812427;24092570;24120667;24191246;24255178;24732133;9610721;9628581 10014 K7EJL4;K7EJL6;K7EJZ7;K7ES01;Q9UQL6 AB011172;AB177853;ABBA01028387;ABBA01028388;AC023855;AF039691;AF132608;AK027734;AK075095;AK093150;AK294760;AMYH02033469;BC011260;BC013140;BC038423;BC041914;BC051824;BK000028;BM564861;BM998071;CH471178;CN290533;NM_001015053;NM_005474;XM_005256904;XM_005256905;XM_005256906;XM_005256907;XM_006721629 AAC18040;AAD29047;AAH13140;AAH51824;BAA25526;BAB55329;BAD66831;BAG57895;DAA00017;EAW51633;EAW51634;NP_001015053;NP_005465;Q9UQL6;XP_005256961;XP_005256962;XP_005256963;XP_005256964;XP_006721692 Hs.438782 1655501;1733460;1856055;2114941;2138474;2217414 D17S1202;D17S1233;G15993;HDAC5_3756;RH47506;WI-16312 FLJ90614;HD5;NY-CO-9 antigen NY-CO-9 APPROVED protein-coding ENSG00000108840 HGNC:14068 09246 605315 REVIEWED 1349346 HDAC7 histone deacetylase 7 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13.1 46974055 47011314 - 48176505 48213763 - 47782722 47820416 - 708314;1580863;6480464;6484113;8554872;9104959 10640276;21151613 10922406;11262386;11279209;11466315;11929873;12015313;12239305;12477932;12551922;12711221;12753745;12970571;14702039;15161933;15166223;15280364;15302935;15324660;15364908;15489334;15623513;15738054;15778465;16541075;16860317;16956611;16980305;16980613;17360565;17369396;17373667;17379597;17827213;17873065;17947801;17962809;17979178;17997710;18029348;18285338;18339811;18458084;18463162;18506539;18509061;18617643;18625722;19029091;19240061;19351956;19355988;19738286;19784544;19913121;19917725;19966789;20224040;20590529;20628086;20693714;21048031;21120446;21139048;21148070;21324898;21836063;21890473;22155184;22172637;22584896;23000965;23128233;23251661;23263486;23401860;23696748;23752268;23853092;23880157;23891737;24189120;24255178;8125298 51564 C9J102;C9JAH2;C9JBC2;C9JEB6;C9JF80;C9JGF5;C9JH46;C9JKN3;C9JNI4;C9JS90;C9JVZ1;C9JZ79;F8VWY3;H0YH91;H0YHJ5;H0YI15;H0YI41;J3KPH8;Q8WUI4 ABBA01031468;ABBA01031469;ABBA01031470;ABBA01031471;AC004466;AF239243;AK001032;AK001190;AK024387;AK024469;AK026767;AK027781;AK122588;AK128383;AK225910;AK299292;AK301545;AK303481;AK309547;AL117455;AMYH02026416;AY302468;AY321367;BC006453;BC020505;BC064840;BT009771;CH471111;DC376749;NM_001098416;NM_015401;XM_005268968;XM_006719454;XM_006719455;XM_006719456;XM_006719457;XM_006719458 AAF63491;AAH06453;AAH20505;AAH64840;AAP84704;AAP88773;AAQ18232;BAA91474;BAA91545;BAB15546;BAB15759;BAB55363;BAC56929;BAG54670;BAG61307;BAG63042;BAG64517;CAB55935;EAW57952;EAW57953;EAW57954;EAW57955;EAW57956;EAW57957;EAW57958;NP_001091886;NP_056216;Q8WUI4;XP_005269025;XP_006719517;XP_006719518;XP_006719519;XP_006719520;XP_006719521 Hs.200063 1681925;1776098;1789078;2158922;2173107;2173815;2184291;2191667;5016352;5037552 D8S2279;G65674;L30021;MARC_4297-4298:996679522:1;RH93449;SHGC-30216;SHGC-63529;STS-R00262;WI-14839;WI-18194 DKFZp586J0917;FLJ99588;HD7;HD7A;HDAC7A OTTHUMP00000202813;OTTHUMP00000202814;OTTHUMP00000202819;OTTHUMP00000202823;OTTHUMP00000241948;OTTHUMP00000241949;histone deacetylase 7A APPROVED protein-coding ENSG00000061273 HGNC:14067 09133 606542 REVIEWED 736253 HDC histidine decarboxylase This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010] 15 15 15 q21.2 27426734 27450752 - 50534144 50558162 - 50241947 50265965 - 1580863;704404;5143921;5143920;5143922;6480464;5128884;6907045;7240710;8554872 14556983;15054596;17158962;20608921 10224444;10350177;10785554;11380149;11411619;11556524;11566179;12020851;12371609;12372397;12477932;12679420;12768436;1425659;14670968;1487235;15167966;15928846;16297195;16344560;16760908;16822545;16849647;16919600;17672918;1768863;17703412;19059912;19133005;19156168;19258923;19266161;20301778;20379614;20445167;20503287;21454364;21873469;21915437;22095709;2216786;22684068;22767596;23572231;23825391;24415870;7851890;8288622;8786082;9654597;9865502 3067 H0YLF0;P19113 ABBA01039117;AC009753;AC022087;AK027221;AK308833;AK310479;AK311072;AL041199;AMYH02030399;BC130527;BC144173;CH471082;D16583;DA916790;M60445;NG_027487;NM_002112;X54297 AAC41698;AAI30528;AAI44174;ADR83232;BAA04015;CAA38196;EAW77387;NP_002103;P19113 Hs.1481 1795968;2120698;2152265;2179095 D15S1162;D15S943;HDC_123;RH69151 MGC163399 OTTHUMP00000162415 2289561 BW440_H APPROVED protein-coding ENSG00000140287 HGNC:4855 00817 137580;142704 REVIEWED 1316830 HDDC2 HD domain containing 2 FOUND IN extracellular vesicular exosome; INTERACTS WITH (S)-nicotine; all-trans-retinoic acid; calcitriol 6 6 6 q13-q24.3 126341534 126368320 - 125596496 125623287 - 125275350 125302141 - 6480464 10810093;12477932;15342556;20877624;21139048;22190034 51020 Q7Z4H3;V9GYS5;V9GZ04 ABBA01025954;AF151888;AF529363;AL121938;AMYH02014432;BC001671;BC003357;BC061520;BC066332;BE743302;BP257644;CH471051;DB447428;NM_016063;XR_245538 AAD34125;AAH01671;AAH03357;AAH66332;AAQ09597;EAW48136;EAW48137;EAW48138;EAW48139;EAW48140;EAW48141;NP_057147;Q7Z4H3 Hs.32826 1645071;2150750;2155797 RH46850;SHGC-64101;WI-15129 C6orf74;CGI-130;MGC87330;NS5ATP2;dJ167O5.2 HCV NS5A-transactivated protein 2;HD domain-containing protein 2;OTTHUMP00000017137;hepatitis C virus NS5A-transactivated protein 2 protein-coding HGNC:21078 12897 VALIDATED 1344478 HDAC8 histone deacetylase 8 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] X X X q13 71892584 72136175 - 71549366 71792953 - 72329516 72573103 - 1580863;6480464;7240710;8699517;8554872;9104959 21151613 10748112;10756090;10922473;10926844;11533236;12082111;12477932;12509458;12711221;14578343;14684825;14701748;15342556;15477595;15590418;15772115;1605216;16681389;16809764;1746601;17721440;17786334;18256683;19053282;19070599;19118036;19140693;19355988;19913121;20029090;20301283;20484414;20545365;20628086;21139048;21455583;21499270;21790156;21890473;21906983;22046129;22391568;22885700;22889856;22944197;23111066;23430957;23482931;23752268;24077923;24171457;24404147;24920679;8889548 55869 A6NFW1;A6NGJ7;A6NGT0;A6NMT1;B4DQE7;C9J8F0;E7EVA8;E7EW22;F8WCG4;F8WDK0;Q9BY41 ABBA01046219;ABBA01046220;ABBA01046221;ABBA01046222;ABBA01046223;ABBA01046224;ABBA01046225;ABBA01046226;ABBA01046227;ABBA01046228;ABBA01046229;ABBA01046230;ABBA01046231;ABBA01046232;ABBA01046233;ABBA01046234;ABBA01046235;ABBA01046236;ABBA01046237;ABBA01046238;ABBA01046239;ABBA01046240;ABBA01046241;ABBA01046242;ABBA01046243;ABBA01046244;AF212246;AF230097;AF245664;AI651236;AI916593;AJ277724;AK074326;AK294903;AK296641;AK298767;AK300895;AL133500;AMYH02039703;AMYH02039704;AMYH02039705;AMYH02039706;AMYH02039707;AY429539;BC050433;BF514915;BP229332;BQ189619;BQ632790;BX295542;CH471213;DC352390;NG_015851;NM_001166418;NM_001166419;NM_001166420;NM_001166422;NM_001166448;NM_018486;NR_051952;XM_006724672;XM_006724673;XM_006724674 AAF73076;AAF73428;AAH50433;AAK14930;ABZ92351;ACE87811;ACT64512;BAG57992;BAG59242;BAG60909;BAG62534;CAB90213;EAW71821;EAW71822;EAW71823;EAW71824;NP_001159890;NP_001159891;NP_001159892;NP_001159894;NP_001159920;NP_060956;Q9BY41;XP_006724735;XP_006724736;XP_006724737 Hs.310536 1687433;1701788;1702024;1702356;1714833;1767961;1777100;1853541;2119452;2171283;5093800 A009W47;DXS1163;DXS1377;DXS7027E;G30088;G32931;L77829;RH120411;RH16247;RH93559;SGC34789 CDA07;CDLS5;HD8;HDACL1;MRXS6;RPD3;WTS OTTHUMP00000023539;OTTHUMP00000023540;OTTHUMP00000023541;OTTHUMP00000023542;OTTHUMP00000023543;OTTHUMP00000023544;OTTHUMP00000023545;OTTHUMP00000023546;OTTHUMP00000023549;Wilson-Turner X-linked mental retardation syndrome;Wilson-Turner syndrome (mental retardation, X-linked, syndromic-6, with gynecomastia and obesity);histone deacetylase-like 1 APPROVED protein-coding ENSG00000147099 HGNC:13315 02227 300269;300882;309585 REVIEWED 1606390 HDDC3 HD domain containing 3 ENCODES a protein that exhibits guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; cisplatin 15 15 15 q26.1 67883353 67884972 - 91474148 91475792 - 90930918 90932569 - 6480464 12477932;14702039;15489334;16189514;16572171;17207965;20818390;21832049;21890473;24816145;8889548 374659 H0YKT9;H0YNP9;Q8N4P3 ABBA01053071;AC068831;AK057584;AMYH02031055;AW138983;BC033794;BQ777217;BU633661;CA450487;CH471101;CV573934;NM_001286451;NM_198527;NR_104447 AAH33794;ADQ32799;EAX02125;EAX02126;NP_001273380;NP_940929;Q8N4P3 Hs.349979 1740613 D15S1152 (ppGpp)ase;MESH1;MGC45386 HD domain-containing protein 3;OTTHUMP00000180560;OTTHUMP00000180561;guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1;metazoan SpoT homolog 1;metazoan SpoT homolog-1;penta-phosphate guanosine-3'-pyrophosphohydrolase protein-coding ENSG00000184508 HGNC:30522 14635 VALIDATED 1344578 HDGFL1 hepatoma derived growth factor-like 1 INTERACTS WITH hydralazine; valproic acid; 17alpha-ethynylestradiol (ortholog) 6 6 6 p22.3 23803036 23804108 + 22569678 22570750 + 22569449 22570521 + 6480464 14702039;16344560;20509080 154150 Q5TGJ6 ABBA01022300;AK056824;AL033539;AMYH02013298;CD358518;CH471087;DB020205;HC007252;HC044527;NM_138574 AAI72324;BAB71292;CBH19431;CBH30593;EAW55436;NP_612641;Q5TGJ6 Hs.629246 1690177;5493631 RH93122;UniSTS:489993 PWWP1;dJ309H15.1 HDGF (hepatoma-derived growth factor) like;OTTHUMP00000017836;PWWP domain containing 1;PWWP domain-containing protein 1;hepatoma-derived growth factor-like protein 1 protein-coding HGNC:21095 17935 PROVISIONAL 1353912 HDAC9 histone deacetylase 9 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 p21.1 18515050 19016663 + 18126572 19039135 + 18086942 18999512 + 1580863;6480464;8554872;9104959 21151613 10487760;10487761;10523670;10655483;10748098;10825153;10922406;11022042;11466315;11486045;11535832;11959865;12032081;12054582;12242305;12477932;12590135;12706107;12711221;12853948;14506250;14684825;14702039;15060175;15138260;15166223;15194749;15489334;15567413;15623513;15711539;15738054;15964851;16147992;16288017;16356933;16399788;16611996;16980305;17081983;17301242;17360565;17403666;17980413;18332106;18438919;18549475;19303849;19351956;19522008;19624894;19723072;19893013;19913121;20031566;20203086;20211142;20298200;20361981;20379614;20596014;20628086;20844743;20848476;20936779;20947501;21078662;21173110;21247901;21247904;21708950;21806350;21987446;22032556;22306652;22487525;22647378;22693459;22884548;22945647;23041239;23251661;23288173;23297420;23393555;23449258;23674352;23752268;23771909;23784969;23828597;24262325;24324551;24427341;24650256;9847074;9872452 9734 B5MCF1;B7Z3P7;C9IZS0;C9J1W4;C9J835;C9JD56;C9JLX1;F8WDS2;Q9UKV0 AA405905;AB018287;ABBA01056649;ABBA01056650;ABBA01056651;ABBA01056652;ABBA01056653;AC002088;AC002124;AC002410;AC002433;AC004744;AC004994;AC005249;AC010082;AC074193;AC091697;AF124924;AJ459808;AK095820;AK097178;AK296214;AK297404;AK304298;AK304343;AK304410;AK316109;AMYH02015314;AMYH02015315;AMYH02015316;AMYH02015317;AY032737;AY032738;AY197371;AY429540;BC111735;BC150328;BC152405;CH236948;CH471073;CR749550;DC369193;KF458392;KF458393;KF458395;KF458396;NG_023250;NM_001204144;NM_001204145;NM_001204146;NM_001204147;NM_001204148;NM_014707;NM_058176;NM_178423;NM_178425;XM_006715802;XM_006715803 AAC78618;AAD15364;AAF04254;AAI11736;AAI50329;AAI52406;AAK66821;AAK66822;AAO27363;AAS07401;AAS07402;AAS07409;AAS07422;AAS07423;AAS07424;ACE86817;ACE86818;ACE87504;BAA34464;BAC04630;BAC04971;BAH12283;BAH12570;BAH14153;BAH14164;BAH14176;BAH14480;CAD30851;CAH18349;EAW93701;EAW93702;EAW93703;EAW93704;EAW93705;EAW93706;EAW93707;EAW93708;EAW93709;EAW93710;NP_001191073;NP_001191074;NP_001191075;NP_001191076;NP_001191077;NP_055522;NP_478056;NP_848510;NP_848512;Q9UKV0;XP_006715865;XP_006715866 Hs.196054 1335331;1336938;1657901;1664563;1691516;1696662;1716817;1716845;1718715;1724987;1754659;1774148;1853539;2121889;2145033;2171883;2180906;7184466;7186779;7186824 AFM218ZB2;D7S2532;D7S638;D7S778;G42155;G61734;GDB:1317612;GDB:1318450;RH121703;RH121716;RH124026;RH69484;RH70470;SHGC-133016;SHGC-59902;SHGC-82969;STS-N24887 DKFZp779K1053;HD7;HD7b;HD9;HDAC;HDAC7;HDAC7B;HDAC9B;HDAC9FL;HDRP;KIAA0744;MITR MEF-2 interacting transcription repressor (MITR) protein;MEF2-interacting transcription repressor MITR;OTTHUMP00000201766;OTTHUMP00000201767;OTTHUMP00000201768;OTTHUMP00000201895;OTTHUMP00000201926;OTTHUMP00000201927;OTTHUMP00000225210;OTTHUMP00000225211;OTTHUMP00000225262;OTTHUMP00000231731;histone deacetylase 4/5-related protein;histone deacetylase 7;histone deacetylase 7B;histone deacetylase-related protein APPROVED protein-coding ENSG00000048052 HGNC:14065 05944 606543 REVIEWED 1347851 HDGFP1 hepatoma-derived growth factor pseudogene 1 INTERACTS WITH mercury atom; mercury(0) X X X q25 131167077 131168674 + 130780649 130782246 + 131646640 131648237 + 6480464 474167 ABBA01042145;AL109853;AL365256;AMYH02040495;NG_004722 1777367;1781482 SHGC-132399;SHGC-2664 HDGFP APPROVED pseudo HGNC:31836 INFERRED 735331 HDGF hepatoma-derived growth factor This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. This gene was thought initially to be located on chromosome X, however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 129783131 129793471 - 156711899 156722240 - 156742107 156752448 - 1580863;6480464 11751870;12477932;12972397;14535987;14702039;14751852;15017145;15146197;15489334;15560738;15761153;15870924;16344560;16710414;17062679;17081983;17473954;17487837;17620012;17974029;18331345;18478933;18651222;19144156;19162039;19432814;19710540;19924574;20211142;20846397;20848225;20946988;21110914;21139048;21255068;21302807;21426662;21693764;21890473;21906983;21907836;21988832;22006999;22037800;22247069;22331796;22361040;22863883;23000965;23305559;23468531;23536873;23609195;23673296;23771798;23793608;23874603;23878072;23954293;24072730;24097068;24244333;24583282;24770635;24816145;7929202;8833162 3068 A8K8G0;P51858 ABBA01016645;ABBA01016646;ABBA01016647;AK096411;AK292325;AK298342;AK304468;AK315514;AL590666;AL833592;AMYH02001979;AMYH02001980;AU131311;BC018991;CH471121;CN392158;CN396181;D16431;DA207052;DA367806;DR159090;F36780;NM_001126050;NM_001126051;NM_004494;XM_006711280;XM_006711281 AAH18991;ABM84332;ABM87723;BAA03903;BAF85014;BAG37895;BAG53283;BAH12761;BAH14194;EAW52910;EAW52911;EAW52912;NP_001119522;NP_001119523;NP_004485;P51858;XP_006711343;XP_006711344 Hs.743948 1670958;1754049;1777367;1781482;1849422;2130503 RH11678;RH17641;SHGC-12542;SHGC-132090;SHGC-132399;SHGC-2664 DKFZp686J1764;FLJ96580;HMG1L2 HMG-1L2;OTTHUMP00000038721;OTTHUMP00000038722;OTTHUMP00000038723;high mobility group protein 1-like 2;high-mobility group protein 1-like APPROVED protein-coding ENSG00000143321 HGNC:4856 02079 600339 REVIEWED 1344399 HDHD1 haloacid dehalogenase-like hydrolase domain containing 1 This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010] X X X p22.32 11193070 11292376 - 6966961 7066231 - 7048920 7148190 - 1580863;6480464 11337467;12477932;1284467;15489334;16344560;1734713;20722631;24250222;8125298;9055824 8226 E7EVH9;Q08623 AA262524;ABBA01029204;ABBA01029205;ABBA01029206;ABBA01029207;ABBA01029208;ABBA01029209;ABBA01029210;ABBA01029211;ABBA01029212;AC073583;AK223405;AK300740;AK300985;AK307088;AK313155;AMYH02038812;AU099056;AU141098;BC012494;BE019082;BG419948;CH471074;DA653367;DC388394;DR156836;M86934;NG_021256;NM_001135565;NM_001178135;NM_001178136;NM_012080 AAA58622;AAH12494;BAD97125;BAG35973;BAG62605;BAH13339;EAW98746;EAW98747;EAW98748;NP_001129037;NP_001171606;NP_001171607;NP_036212;Q08623 Hs.185910 1338810;1666564;1725787;1740319;1773513;1850944;2142204;5022792;5119925 D1S1163;DXS7967;DXS9742;G62133;GDB:187813;HDHD1A;RH1709;RH68074;STS-H73061 DXF68S1E;FAM16AX;GS1;HDHD1A 5'-PsiMPase;OTTHUMP00000022867;OTTHUMP00000225775;OTTHUMP00000225776;OTTHUMP00000225777;family with sequence similarity 16, member A, X-linked;haloacid dehalogenase-like hydrolase domain containing 1A;haloacid dehalogenase-like hydrolase domain-containing protein 1;haloacid dehalogenase-like hydrolase domain-containing protein 1A;pseudouridine-5'-monophosphatase APPROVED protein-coding ENSG00000130021 HGNC:16818 02383 306480 REVIEWED 1354012 HDHD1P1 haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 1 X Y Y q11.221 4471322 4473276 - 17485384 17487338 - 15373504 15375458 - 1284467;9847074 327658 ABBA01057045;AC006998;NG_002612 1781350;2188463;2188471;2188475;2188491;2188497 G64728;G66425;G66429;G66431;G66440;G66444 FAM16AY;HDHD1BP APPROVED pseudo HGNC:20200 INFERRED 1606489 HDGFRP2 hepatoma-derived growth factor-related protein 2 This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of histone H3, and di- and tri-methylated lysine 20 of histone H4. The protein functions in LEDGF/p75-independent HIV-1 replication by determining HIV-1 integration site selection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] 19 19 19 p13.3 4410462 4440415 + 4472255 4502223 + 4472258 4502211 + 6480464 12477932;12975309;14702039;15797927;16337983;17353931;17620599;21044950;21720545;21890473;22113938;22396646;22863883;23000965;23046603;23455922;24816145;9299445 84717 Q59H67;Q7Z4V5 AB208892;ABBA01056065;ABBA01056066;ABBA01056067;ABBA01056068;ABBA01056069;ABBA01056070;AC011498;AF294267;AK027353;AL520441;AMYH02035290;AW054790;AY358600;BC000755;BC009449;BE745571;BI826321;BI905780;BM147540;CH471139;HY016231;KF573697;NM_001001520;NM_032631 AAH00755;AAH09449;AAP97281;AAQ88963;ABM83101;ABM86296;BAD92129;EAW69215;EAW69216;NP_001001520;NP_116020;Q7Z4V5 Hs.43071 1686951;1691030;5015619;5022578;5024039 D11S3114;D16S325;D1S1423;RH80135;RH91513 HDGF-2;HDGF2;HRP-2;MGC2641 hepatoma-derived growth factor 2 APPROVED protein-coding ENSG00000167674 13639 REVIEWED 1347832 HDHD1P2 haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 2 1 1 1 q21.3 125210317 125212327 - 152095636 152097646 - 152123160 152125170 - 1284467 327659 ABBA01049410;AL589986;AMYH02001891;NG_002613 FAM16B;HDHD1CP APPROVED pseudo HGNC:20195 INFERRED 1606795 HDGFRP3 hepatoma-derived growth factor, related protein 3 ENCODES a protein that exhibits growth factor activity (inferred); FOUND IN nucleus; INTERACTS WITH 5-fluorouracil; aflatoxin B1; all-trans-retinoic acid 15 15 15 q25.2 60710975 60780401 + 83806804 83876770 - 83115406 83208018 - 6480464 10581169;10810093;12477932;14702039;15371438;15489334;15761153;18029348;19237540;21044950;21706016;21890473;23000965;23503679;24012673;24816145 50810 Q9UMB4;Q9Y3E1 AA725615;AB029156;ABBA01029434;ABBA01029435;ABBA01029436;AC024270;AC103876;AF110642;AF151900;AK001280;AL109689;AMYH02030925;AMYH02030926;AMYH02030927;AMYH02030928;BC015483;BC040554;CH471188;NM_016073;XM_006720554 AAD34137;AAH15483;AAM27001;ADZ15815;BAA90477;BAA91597;CAB52021;EAW62425;EAW62426;EAW62427;NP_057157;Q9Y3E1;XP_006720617 Hs.513954 1857619;2175920;2179038 RH47317;SHGC-35969;STS-AA035142 CGI-142;HDGF-2;HDGF2;HRP-3 hepatoma-derived growth factor 2;hepatoma-derived growth factor-related protein 3 protein-coding 17096 VALIDATED 2947562 HDHD1P3 haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 3 20 20 20 q11.21 28389203 28389877 - 31635326 31636000 - 33047520 33048194 - 391242 ABBA01019245;AL121756;AMYH02036942;NG_021980 HDHD1DP APPROVED pseudo HGNC:38118 INFERRED 1351910 HDHD3 haloacid dehalogenase-like hydrolase domain containing 3 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; arsane 9 9 9 q32 86783309 86785952 - 116135698 116139289 - 113373418 113377009 - 737633;1580863;6480464 12477932 14702039;16189514;19060904;21906983;24250222 81932 Q9BSH5 ABBA01042687;AJ420424;AK097067;AK315401;AL137066;AMYH02021509;BC005048;BC031878;CH471090;NM_031219;XM_005252251;XM_005252252;XM_006717296 AAH05048;AAH31878;BAG37794;BAG53418;EAW87375;EAW87376;EAW87377;EAW87378;NP_112496;Q9BSH5;XP_005252308;XP_005252309;XP_006717359 Hs.7739 1682211;1774984;2150704 D9S1692;D9S1759;RH91367 2810435D12Rik;C9orf158;MGC12904 OTTHUMP00000021956;haloacid dehalogenase-like hydrolase domain-containing protein 3 protein-coding ENSG00000119431 HGNC:28171 13641 PROVISIONAL 1349697 HDLCQ1 high density lipoprotein cholesterol level QTL 1 ASSOCIATED WITH HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 (inferred) 7240710 11743583 192144 1357243 D9S925 HGNC:30996 606613 1348609 HDHD2 haloacid dehalogenase-like hydrolase domain containing 2 ENCODES a protein that exhibits enzyme binding; FOUND IN extracellular vesicular exosome; INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; copper(2+) sulfate 18 18 18 q21.1 41484304 41527393 - 44633781 44676891 - 47107410 47150520 - 737633;1580863;6480464 12477932 11076863;11230166;14702039;15489336;16169070;16381901;19056867;21139048;21890473;22939629;24250222;24816145;8125298 84064 K7EJQ8;K7EKX8;K7EMY7;K7ENF3;K7EQD2;K7ER15;Q9H0R4;V9HW73 ABBA01018616;AC012254;AC051635;AC245012;AC245453;AK054590;AK292098;AL136681;BC011894;BC033031;BC038100;CH471096;CR533487;FJ224322;NM_032124;XM_005258369;XM_005258371;XM_005258372;XM_006722557 AAH11894;AAH33031;AAH38100;ACI46014;BAB70768;BAF84787;CAB66616;CAG38518;CAL38357;EAW62905;EAW62906;EAW62907;EAW62908;NP_115500;Q9H0R4;XP_005258426;XP_005258428;XP_005258429;XP_006722620 Hs.465041 1706118;1730771;1768207;2114120;2125731;2141908;2146556;7183843;7184744 AB056830;D18S105E;D18S929E;RH12033;SHGC-80098;WI-13484;WI-14624 3110052N05Rik;DKFZP564D1378;HEL-S-301 epididymis secretory protein Li 301;haloacid dehalogenase-like hydrolase domain-containing protein 2 protein-coding ENSG00000167220 HGNC:25364 13640 VALIDATED 1348226 HDX highly divergent homeobox ENCODES a protein that exhibits DNA binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH amiodarone; cyclosporin A; valproic acid X X X q21.1 83811669 83996281 - 83572882 83757487 - 84317874 84502479 - 6480464;8554872 12477932;14702039;16344560;20211142;20462248 139324 E2QRN0;Q7Z353 ABBA01051552;ABBA01051553;ABBA01051554;ABBA01051555;ABBA01051556;ABBA01051557;ABBA01051558;ABBA01051559;ABBA01051560;ABBA01051561;ABBA01051562;ABBA01051563;ABBA01051564;ABBA01051565;ABBA01051566;ABBA01051567;ABBA01051568;ABBA01051569;ABBA01051570;ABBA01051571;ABBA01051572;ABBA01051573;ABBA01051574;ABBA01051575;ABBA01051576;ABBA01051577;ABBA01051578;ABBA01051579;AK055240;AK290050;AL022160;AL035552;AL450471;AMYH02039884;AMYH02039885;BC101720;BC101722;BC143522;BX538112;BX649166;CH471104;DA719263;KF459186;NG_017158;NM_001177478;NM_001177479;NM_144657;XM_005262081;XM_006724619;XR_244472 AAI01721;AAI01723;AAI43523;BAB70886;BAF82739;CAD98024;EAW98572;EAW98573;EAW98574;NP_001170949;NP_001170950;NP_653258;Q7Z353;XP_005262138;XP_006724682 Hs.559546 1701716;1858148;2165061 DXS121;DXS1519;SHGC-18090 CXorf43;D030011N01Rik;FLJ30678;MGC126769;MGC126771 OTTHUMP00000023619;OTTHUMP00000023620;OTTHUMP00000217521 protein-coding ENSG00000165259 HGNC:26411 06550 VALIDATED 732166 HDLBP high density lipoprotein binding protein The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 2 2 2 q37.3 235835975 235924726 - 242166682 242255116 - 241227267 241315842 - 1580863;6480464;8554872 10657246;11284697;12107412;12477932;12488461;12543931;1318310;14500828;14504658;14702039;15109574;15231748;15302935;15489334;15592455;15723802;17081983;17353931;17620599;18029348;18648073;19471022;19878569;19913121;19950580;20442750;20628086;20936779;20974809;21139048;21145461;21319273;21500547;21890473;21906983;22113938;22505724;22586326;22751105;22863883;22939629;23000965;23383273;23535732;24250222;24550385;24561205;24583282;24639526;24816145;3034894;8168838;8390966;8477745;8605996;8681952;9409201 3069 C9J5E5;C9J739;C9JB08;C9JBS3;C9JE93;C9JEJ8;C9JES8;C9JHN6;C9JHS7;C9JHS9;C9JHZ8;C9JIZ1;C9JK79;C9JMQ6;C9JQ82;C9JT62;C9JZI8;H0Y394;H7BZC3;H7C0A4;H7C2D1;H7C3D0;Q00341 ABBA01006043;ABBA01006044;AC104841;AF116718;AK026138;AK092755;AK127833;AK131375;AK296684;AK300312;AK309075;AK312335;AL701577;AMYH02006111;AMYH02006112;BC001179;BC007961;BC009422;BC014305;BC021817;BC038965;BC058826;BC113120;BG476584;BG720303;BG769363;BX647759;BX648235;CD672674;CH471063;CQ834792;KF456779;M64098;NM_001243900;NM_005336;NM_203346;X92544;X92545;XM_005247000;XM_005247001;XM_005247002;XM_005247003;XM_006712475;XM_006712476 AAA35962;AAF71138;AAH01179;AAH14305;AAI13121;AAY14717;ABM82813;ABW03453;BAC87153;BAD18526;BAG35256;BAG59280;BAG62064;CAH05611;CAI46262;EAW71253;EAW71254;EAW71255;NP_001230829;NP_005327;NP_976221;Q00341;XP_005247057;XP_005247058;XP_005247059;XP_005247060;XP_006712538;XP_006712539 Hs.471851;Hs.732361 1645262;1658790;1701640;1725521;1730183;1734854;1739971;1850257;1852609;2143680;2146606;2158991;2181593 A005K34;D2S1516E;D2S1602E;D2S180E;D2S2126;G42013;G42014;IB1294;RH101;RH104464;RH119159;RH47030;SGC30234 FLJ16432;HBP;PRO2900;VGL HDL-binding protein;OTTHUMP00000164572;OTTHUMP00000200288;OTTHUMP00000200289;OTTHUMP00000200290;high density lipoprotein-binding protein;lipoprotein-binding protein;vigilin APPROVED protein-coding ENSG00000115677 HGNC:4857 00813 142695 REVIEWED 1602884 HEATR3 HEAT repeat containing 3 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; atrazine 16 16 16 q12.1 34613203 34679975 + 50099881 50139392 + 50065970 50105481 + 6480464;8554872 12477932;14702039;15489334;19322201;19471022;21139048;21890473;22797925;22960999;23181366;23615072;23666239;23666240;23956138;24250222 55027 Q7Z4Q2 ABBA01000879;ABBA01000880;ABBA01000881;AC007610;AF462442;AK000725;AK289949;AMYH02032007;BC014415;BC018730;BC033077;CH471092;NM_182922;XM_005256013;XM_005256014 AAH14415;AAH18730;AAH33077;AAP97710;BAA91342;BAF82638;EAW82743;EAW82744;EAW82745;NP_891552;Q7Z4Q2;XP_005256070;XP_005256071 Hs.733027 1681893;2220260;5015881;5022651;5037552 AB049854;D11S2921;D8S2279;GDB:335751;RH65772 FLJ20718;SYO1 HEAT repeat-containing protein 3;OTTHUMP00000164228;OTTHUMP00000164229 protein-coding HGNC:26087 07945 614951 PROVISIONAL 1605668 HEATR1 HEAT repeat containing 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN rRNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane; mitochondrion; nucleolus; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; cobalt dichloride 1 1 1 q43 209960588 210016126 - 236712305 236767841 - 236536162 236604541 - 6480464;6907045;8554872 10737800;12429849;12477932;14702039;15028280;15146197;15231747;16344560;16710414;17353931;17699751;18029348;18187620;19471022;19596686;19738201;19946888;20467438;21139048;21890473;21906983;21963094;21987572;22053931;22178446;22190034;22505724;22586326;22623428;23000965;23383273;23455922;23752268;24457600;24639526;24816145 55127 A2VDI1;B2RWN5;Q5T3Q7;Q6P664;Q9H583 ABBA01033166;ABBA01033167;AK001221;AK001857;AK095692;AK098212;AK125663;AK304129;AK316413;AL359921;AL599555;AMYH02002971;AMYH02002972;AX067150;BC011983;BC035302;BC062442;BC065205;BC130000;BC150614;BQ376007;BU102172;CH471098;CK002719;CN357968;DB067322;HG493359;KF455169;NM_018072;XR_426917 AAH11983;AAH62442;AAH65205;AAI30001;AAI50615;BAA91564;BAC05261;BAG54233;BAG65025;BAH14784;CAC26776;EAW70060;EAW70061;EAW70062;EAW70063;NP_060542;Q9H583 Hs.708114 1645480;1645482;1645829;1698968;1722589;1739235;1744887;1767208;1846905;1855606;1856470;2148490;2170926;2172297;2180317;2182218 A005A42;AL010072;D1F299S1;D1S2293;G20229;G60376;HSCZVH012;RH103053;RH16350;RH68829;SGC34592;SHGC-32054;SHGC-76570;SHGC-76571;WI-12386;WI-20466 BAP28;FLJ10359;MGC72083;RP11-385F5.3;RP11-385F5.5;UTP10 HEAT repeat-containing protein 1;OTTHUMP00000037966;OTTHUMP00000037967;UTP10, small subunit (SSU) processome component, homolog protein-coding ENSG00000119285 HGNC:25517 17569 VALIDATED 1606283 HEATR2 HEAT repeat containing 2 The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013] 7 7 7 p22.3 734101 794859 + 766338 826116 + 726701 786479 + 6480464;8699517;7240710;8554872 12477932;14702039;15489334;16169070;16341674;17353931;18838000;19471022;20301301;21252943;21890473;21906983;21963094;21987572;22053931;22505724;22863883;23040496;23956138;24654937;24816145;25232951;8125298 54919 B3KPE2;E9PGY2;H0Y650;H7C3B1;Q86Y56 ABBA01039303;ABBA01039304;AC144411;AK000404;AK054595;AK056233;AK096700;AK098430;AK225507;AL832914;AMYH02015033;BC010850;BC047240;BC072425;BC094840;BM743055;CB238804;CH236965;CH471144;NG_033137;NM_017802;NR_075098 AAH10850;AAH47240;BAA91142;BAG51395;BAG51654;BAG53353;CAH10624;EAW87168;EAW87169;EAW87170;EAW87171;EAW87172;EAW87173;NP_060272;Q86Y56 Hs.535896 1648758;1777732;2142041 D7S2037E;GDB:4585429;STS-R09421 CILD18;FLJ20397;FLJ25564;FLJ31671;FLJ39381 HEAT repeat-containing protein 2;OTTHUMP00000199961;OTTHUMP00000199962 protein-coding ENSG00000164818 HGNC:26013 07903 614864;614874 REVIEWED 1602622 HEATR4 HEAT repeat containing 4 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH toluene (ortholog) 14 14 14 q24.3 54009476 54061745 - 73945189 74025651 - 73478484 73558947 - 6480464;8554872 12477932;14702039;15489334;18029348;20736409 399671 G3V3Q5;G3V5L2;H3BSP2;Q86WZ0 ABBA01030753;ABBA01030754;ABBA01030755;ABBA01030756;ABBA01030757;ABBA01030758;ABBA01030759;ABBA01030760;AC005225;AC005280;AC245368;AK093515;AK302564;BC047590;CH471061;GU727638;KF455934;KF455936;NM_001220484;NM_203309;XM_006720143;XM_006720144;XM_006720145 AAH47590;ADU87640;BAH13745;EAW81116;EAW81117;NP_001207413;NP_976054;Q86WZ0;XP_006720206;XP_006720207;XP_006720208 Hs.660774 1644664;1653277;1657161;1680867;1689189;1738931;1740767;1774142;1778838;1849679;2110049;2114984;2116067;2116333;2117383;2122577;2128152;2132620;2138076;2138696;2139154;2142502;2143971;2147147;2159281;2160289;2174887;2176593;2176836;2177870;2181565;2182971;5021694 A002Q22;D14S1209;D14S646E;D14S784;G17787;G35609;G35797;G35949;G35993;G36023;G38128;G38138;G38142;G38158;G38170;G38173;G38200;G38209;G38217;G38223;G38226;G38227;G38231;G38276;G38315;G38321;RH92460;RH94023;SHGC-56451;STS-Z40969;WI-22498;ZAP128_9204;ksks225 MGC48595 HEAT repeat-containing protein 4;OTTHUMP00000246584;OTTHUMP00000246585 protein-coding ENSG00000187105 HGNC:16761 14657 VALIDATED 1347266 HEATR5A HEAT repeat containing 5A ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; copper atom 14 14 14 q12 11626496 11723479 - 31760994 31889788 - 31291788 31420582 - 6480464;8554872 10718198;11181995;12477932;14702039;21139048;21906983;21963094;22505724;22939629 25938 F5H619;F8VQQ6;H0YHE0;H0YHS5;H0YIW3;H7C5W6;Q86XA9 AA521333;AB037737;ABBA01061417;ABBA01061418;ABBA01061419;ABBA01061420;ABBA01061421;ABBA01061422;ABBA01061423;AK000343;AK023789;AK092400;AK092933;AL117511;AL136418;AL139353;AMYH02028953;AMYH02028954;BC045764;BC062720;BC063867;BJ996129;CH471078;CR749444;DC343794;DN997074;NM_015473 AAH45764;AAH62720;AAH63867;BAA91098;BAA92554;CAB55971;CAH18282;EAW65947;EAW65948;EAW65949;NP_056288;Q86XA9 Hs.744979 1338848;1655919;1685093;5015961;5020242;5022578;5022588 D11S2612;D14S1071;D15S1477;D1S1423;D5S1597E;RH66015;RH98883 C14orf125;DKFZp781E083;MGC72028 HEAT repeat-containing protein 5A;OTTHUMP00000239988;OTTHUMP00000239989;OTTHUMP00000243952 protein-coding ENSG00000129493 HGNC:20276 VALIDATED 1606785 HEATR6 HEAT repeat containing 6 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 17 17 17 q23.1 54584069 54619809 - 58118790 58156292 - 60043191 60078931 - 6480464;8554872 12477932;12755490;16344560;21139048;21890473;21906983;24816145 63897 K7EIX2;K7EK31;K7EKB1;K7EKF5;K7EKW7;K7ELA5;K7ELR8;K7ESP5;Q6AI08 ABBA01035418;ABBA01035419;AC005702;AC025048;AC245758;AF349752;AK025740;AK026070;AK127708;AK314655;BC040714;BC119771;BC119813;BX640819;BX640831;CH471109;CR627418;DA375099;NM_022070;XM_005257570 AAI19772;AAI19814;AAL83912;BAB15229;BAB15348;BAG54555;CAE45895;CAE45906;CAH10506;EAW94369;EAW94370;NP_071353;Q6AI08;XP_005257627 Hs.221899;Hs.591183 1655891;1714859;1773337;1773339;1856438 D17S1667;RH120424;RH12236;SHGC-24306;SHGC-37673 ABC1;DKFZp686D22141;FLJ22087;MGC148096 HEAT repeat-containing protein 6;amplified in breast cancer 1;amplified in breast cancer protein 1 protein-coding ENSG00000068097 HGNC:24076 12399 VALIDATED 1604716 HEATR9 HEAT repeat containing 9 INVOLVED IN hematopoietic progenitor cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred) 17 17 17 q12 31092173 31105452 - 34181898 34195895 - 35854946 35868891 - 6480464;8554872 12477932;14702039;20237496 256957 A2RTY3 ABBA01011238;ABBA01011239;AC015849;AC244100;AK057392;AK301774;AK301884;AK301943;BC033734;BC132681;BC144011;BX114438;CH471147;HC006976;HC044557;NM_152781;XM_005257955;XM_005257956;XM_005257957;XM_005278233;XM_005278234;XM_005278235;XM_006721800;XM_006721801;XM_006721802;XM_006721803;XM_006721804;XM_006725312;XM_006725313;XM_006725314;XM_006725315;XM_006725316;XR_243777;XR_254513 A2RTY3;AAH33734;AAI32682;ADR83073;ADZ16083;BAB71466;BAG63233;BAG63316;BAG63362;CBH19293;CBH30608;EAW80121;EAW80122;EAW80123;NP_689994;XP_005258012;XP_005258013;XP_005258014;XP_005278290;XP_005278291;XP_005278292;XP_006721863;XP_006721864;XP_006721865;XP_006721866;XP_006721867;XP_006725375;XP_006725376;XP_006725377;XP_006725378;XP_006725379 Hs.514820 1681781 RH93121 C17orf66;FLJ32830 HEAT repeat-containing protein 9;OTTHUMP00000163881;hypothetical protein LOC256957;uncharacterized protein C17orf66 APPROVED protein-coding ENSG00000270379 HGNC:26548 08142 VALIDATED 1604000 HEATR5B HEAT repeat containing 5B ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-chloro-2,4-dinitrobenzene; 2-methylcholine 2 2 2 p22.2 37049173 37152514 - 37208153 37311485 - 36980999 37084345 - 6480464;8554872 10718198;12477932;14702039;17975119;19023099;19322201;19946888;20379614;21890473;24250222 54497 H7C2X3;Q9P2D3 AB037835;ABBA01074970;ABBA01074971;ABBA01074972;ABBA01074973;AC007404;AC007899;AK001513;AK026928;AK096637;AL832880;AMYH02003609;AMYH02003610;AMYH02003611;AMYH02003612;AV759566;BC150605;BX538008;BX648805;CH471053;NM_019024;XM_005264379;XM_006712034;XM_006712035 AAI50606;BAA91733;BAA92652;CAD97959;EAX00412;EAX00413;NP_061897;Q9P2D3;XP_005264436;XP_006712097;XP_006712098 Hs.744084 1673151;1673471;1719193;1789264;2115847;2120709 A002T40;G27381;G65630;RH123315;SHGC-4171;SHGC-63528 KIAA1414 HEAT repeat-containing protein 5B;OTTHUMP00000201323 protein-coding ENSG00000008869 HGNC:29273 11145 VALIDATED 1312483 HECA headcase homolog (Drosophila) This gene encodes the homolog of the Drosophila headcase protein, a highly basic, cytoplasmic protein that regulates the re-entry of imaginal cells into the mitotic cycle during adult morphogenesis. In Drosophila, the encoded protein also inhibits terminal branching of neighboring cells during tracheal development. [provided by RefSeq, Jul 2008] 6 6 6 q23-q24 140196318 140242007 + 139456249 139501946 + 139135112 139180809 + 1580863;6480464 11696983;12477932;14574404;15489334;16525680;19240061;19322201;19643820;19946888;22100912 51696 Q9UBI9 AB033492;AB033496;ABBA01025798;ABBA01025799;AJ420550;AL031772;AL117651;AMYH02014596;AMYH02014597;BC070068;CH471051;KF458298;NM_016217 AAH70068;BAA85322;BAA85333;EAW47901;NP_057301;Q9UBI9 Hs.197644 1658052;1663861;1663863;1739545;2127611;2131042;2137399;2180862 A005Q40;AFMa176xf5;D6S1522;D6S1787;G20423;G29244;RH36066;RH68114 HDC;HDCL;HHDC;dJ225E12.1 OTTHUMP00000017312;headcase protein homolog APPROVED protein-coding ENSG00000112406 HGNC:21041 16265 607977 REVIEWED 1312101 HEBP1 heme binding protein 1 The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [provided by RefSeq, Jul 2008] 12 12 12 p13.1 18276649 18302105 - 13127798 13153243 - 12974864 13000309 - 6480464 10640688;12413491;12477932;15489334;15623572;17237393;18577758;19056867;19913121;20379614;20628086;20800521;21139048;21709160;21906983;22939629;24816145;8889548 50865 F5GWX2;H0YG71;Q9NRV9 AA699304;ABBA01067857;AC007688;AF117615;AF167473;AK289877;AMYH02026067;AW452041;BC016277;BI550915;BT007294;CF126276;CH471094;NM_015987 AAD32098;AAF89618;AAH16277;AAP35958;ABM83264;ABM86469;BAF82566;EAW96295;EAW96296;NP_057071;Q9NRV9 Hs.642618 1721983;1751539;1770395;1771568;1850522;1851215;2155566;2219126 AFM276WA9;G59877;HEBP1__6706;RH44995;RH47861;SHGC-105326;SHGC-32615;STS-N40929 HBP;HEBP;p22HBP OTTHUMP00000239413;OTTHUMP00000239415;heme-binding protein 1 APPROVED protein-coding ENSG00000013583 HGNC:17176 16162 605826 REVIEWED 1350415 HECTD1 HECT domain containing E3 ubiquitin protein ligase 1 ENCODES a protein that exhibits ligase activity (inferred); metal ion binding (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN cell adhesion (inferred); neural tube closure (inferred); protein ubiquitination (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 14 14 14 q12 11434814 11542175 - 31569323 31677266 - 31100117 31208060 - 1580863;6480464;8554872 10574461;12421765;12477932;14702039;15324660;15489334;16344560;17550899;19615732;20639865;21139048;21853274;21890473;21906983;21963094;21987572;22505724;22586326;22863883;23000965;23277359;23443559;23444366;23455922;24255178;24667607;24778252;24811749;24816145;25015289;25036637 25831 G3V4V5;H0YJ72;H0YJD4;H0YJP0;H0YJV8;Q9ULT8 AB032957;ABBA01061412;ABBA01061413;ABBA01061414;AK024847;AK095634;AK125788;AL110222;AL121808;AL136418;AMYH02028949;AY254380;AY739714;BC006237;BC011658;BC063686;BC072441;BC083494;BM977042;CH471078;DA440215;DA509926;DA818448;KC877516;NM_015382;XM_005267502;XM_005267503 AAH06237;AAH11658;AAH63686;AAH83494;AAI72391;AAP13073;AAW65983;BAA86445;BAG54248;CAB53681;EAW65950;EAW65951;EAW65952;NP_056197;Q9ULT8;XP_005267559;XP_005267560 Hs.708017 1662732;1691290;1736400;1854271;2106489;2142532;2184632 D14S657E;G36011;G36143;HECTD1__6707;L18030;RH80695;WI-17484 FLJ38315;KIAA1131 E3 ligase for inhibin receptor;E3 ubiquitin-protein ligase HECTD1;EULIR;HECT domain containing 1;HECT domain-containing protein 1;OTTHUMP00000244204 APPROVED protein-coding ENSG00000092148 HGNC:20157 17098 VALIDATED 1313620 HECTD2 HECT domain containing E3 ubiquitin protein ligase 2 ENCODES a protein that exhibits ligase activity (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN protein ubiquitination (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; quercetin 10 10 10 q23.32 86916030 87018125 + 93169037 93274586 + 91409280 91514829 + 6480464 11597177;12477932;14702039;15164054;15489334;16385451;19214206;19322201;19754925;21139048;21335971;21890473;23770851;7829101;8619474;9110174 143279 B3KV18;B4DIQ2;E7ERR3;Q5U5R9;X6R824 ABBA01021926;AC023902;AF131793;AK094625;AK122629;AK295723;AL161798;AL713675;AL832073;AMYH02023522;AMYH02023523;AW021859;BC036487;BC040187;BG900953;BX537856;CH471066;HY158536;KF455276;NM_001284274;NM_173497;NM_182765;NR_104291;XM_005269555 AAH40187;ACE86953;ACE87644;BAC04388;BAG53630;BAG58564;CAD28480;CAH10405;EAW50109;EAW50110;EAW50111;NP_001271203;NP_775768;NP_877497;Q5U5R9;XP_005269612 Hs.596096 1690986;1710148;1711312;1736138;1751735;1781250;2125184;2131931;2137768 D10S1396E;RH44740;RH45993;RH46925;RH66237;SHGC-105708;SHGC-82330;SHGC-84908;stSG70363 FLJ16050 HECT domain containing 2;HECT domain-containing protein 2;OTTHUMP00000020086;OTTHUMP00000038605;probable E3 ubiquitin-protein ligase HECTD2 APPROVED protein-coding ENSG00000165338 HGNC:26736 13643 VALIDATED 1323071 HEBP2 heme binding protein 2 INVOLVED IN negative regulation of mitochondrial membrane potential; positive regulation of mitochondrial membrane permeability; positive regulation of necrotic cell death; FOUND IN cytoplasm; extracellular vesicular exosome; mitochondrion; INTERACTS WITH all-trans-retinoic acid; cobalt dichloride; copper(2+) sulfate 6 6 6 q24 139465471 139474717 + 138725336 138734582 + 138404199 138413445 + 6480464 10640688;11827465;12477932;14574404;15489334;16189514;17098234;19056867;19460752;19574650;19901022;2018407;21139048;21639858;21890473;23000965;23364796 23593 C9IZA0;H7C0N7;Q5THN1;Q9Y5Z4 ABBA01025809;AF117616;AF411610;AK057928;AL031003;AL391669;AMYH02014579;AY427823;BC008205;BC010290;BC016806;BC016807;BC093037;BF974311;CH471051;NM_014320 AAD32099;AAH08205;AAH10290;AAH16806;AAH16807;AAH93037;AAL07394;AAR88624;EAW47917;NP_055135;Q9Y5Z4 Hs.486589 1647915;1679529;1686636;1760213 RH27495;RH93584;SHGC-132493;SHGC-33316 C6ORF34B;C6orf34;KIAA1244;PP23;RP3-422G23.1;SOUL OTTHUMP00000017296;OTTHUMP00000017297;heme-binding protein 2;placental protein 23 protein-coding HGNC:15716 09316 605825 VALIDATED 1606229 HECTD3 HECT domain containing E3 ubiquitin protein ligase 3 The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle progression, and to STX8. [provided by RefSeq, Dec 2012] 1 1 1 p34.1 43751008 43759811 - 45468220 45477027 - 45002548 45011355 - 6480464;8554872 12477932;12665801;14702039;15489334;16344560;16710414;18194665;18821010;21139048;21903422;21963094;22118674;22623531;22863883;22939624;22990118;23358872;24287696;24816145;8889548;8889549 79654 A1A4G1;B3KU34;Q5T447 AA001245;ABBA01050894;ABBA01050895;AK056545;AK056873;AK091583;AK096462;AK301124;AL359473;AMYH02000921;AW170440;BC012829;BC019105;BC126352;BC130470;BQ215795;CA314393;CH471059;DA332198;NG_033058;NM_024602 AAH19105;AAI26353;AAI30471;BAG51742;BAG51819;BAG52386;BAG53296;BAG62718;EAX07009;EAX07010;NP_078878;Q5T447 Hs.525084 1712338;2170942;2191063 G54078;MARC_13905-13906:1007570719:1;SHGC-74715 FLJ21156;FLJ31983;MGC161630;RP11-69J16.1 E3 ubiquitin-protein ligase HECTD3;HECT domain containing 3;HECT domain-containing protein 3;OTTHUMP00000010267;OTTHUMP00000010268;probable E3 ubiquitin-protein ligase HECTD3 APPROVED protein-coding ENSG00000126107 HGNC:26117 13383 REVIEWED 8698859 HECTD2-AS1 HECTD2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 10 q23.32 86812560 87042942 - 93066719 93371217 - 91306962 91611460 - 8554872 16344560;20418890;8889549 100188947 AA211589;ABBA01021925;ABBA01021926;ABBA01021927;ABBA01021928;AC023902;AC026227;AL161798;AL359986;AMYH02023522;AMYH02023523;BQ182529;DA898704;KF455275;KF455276;NR_024467 Hs.535293 ncrna HGNC:48679 VALIDATED 1606926 HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 ENCODES a protein that exhibits ligase activity (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN glucose homeostasis; glucose metabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; benzo[a]pyrene 12 12 12 q24.13 112223478 112446926 - 112597992 112820113 - 112160188 112382092 - 6480464;8554872 12477932;14702039;19396169;20379614;21139048;21270382;21572416;21642993;21909109;22751097;22797727;23261826;23364009;23575436;9734811 283450 F8VU57;F8VWT9;J3KPF0;Q9Y4D8;V9GYT9 AB014514;AB777655;ABBA01019919;ABBA01019920;ABBA01019921;ABBA01019922;ABBA01019923;ABBA01019924;ABBA01019925;ABBA01019926;ABBA01019927;ABBA01019928;ABBA01019929;AC004031;AC004086;AC004217;AC073575;AF086006;AF174498;AK001372;AK054654;AK091473;AL117469;AMYH02027217;AMYH02027218;AMYH02027219;AMYH02027220;BC006270;BC021144;BC065706;BC101482;BC143384;BC143388;CH471054;KF455726;NM_001109662 AAF36539;AAH06270;AAH21144;AAH65706;AAI01483;AAI43385;AAI43389;BAA31589;BAC03671;BAM76724;CAB55944;EAW97998;EAW97999;EAW98000;NP_001103132;Q9Y4D8 Hs.530943 1655552;1670689;1683701;1691012;1700478;1704382;1771908;1775302;1776888;2115329;2119042;2122082;2130813;2140380;2145611;2159024;5016352;5016781;5491517 D12S1860;D12S2092;G17676;L30021;MARC_16795-16796:1021401606:1;RH103860;RH12610;RH44563;RH44600;RH44712;RH80597;SHGC-17261;SHGC-67307;SHGC-79708;STS-AA007416;STS-H65212;STS-H71122;WI-15340;WI-19956 C12orf51;DKFZp586O1022;FLJ10510;FLJ30092;FLJ30208;FLJ34154;KIAA0614;MGC126531 AF-1 specific protein phosphatase;HECT domain-containing protein 4;OTTHUMP00000241766;POTAGE;probable E3 ubiquitin-protein ligase C12orf51;probable E3 ubiquitin-protein ligase HECTD4;transmembrane protein C12orf51 APPROVED protein-coding ENSG00000173064 HGNC:26611 08170 VALIDATED 1349400 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ENCODES a protein that exhibits ligase activity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH calcitriol; ethyl methanesulfonate; melphalan 2 2 2 q32.3 190819831 191213211 - 197063971 197458416 - 196199247 196592611 - 6480464;8554872 10718198;12477932;12890487;15489334;20379614;21139048;21572392;21890473;22939629;24163370 57520 C9JHL2;C9JPI9;Q9P2P5 AB037722;ABBA01062452;ABBA01062453;ABBA01062454;ABBA01062455;ABBA01062456;ABBA01062457;AC020571;AC068544;AC073905;AC074090;AC093379;AL390186;AMYH02005504;AMYH02005505;AMYH02005506;BC117194;BC117198;CH471063;CR749424;NM_020760;XM_006712646;XM_006712647;XM_006712648;XM_006712649 AAI17195;AAI17199;BAA92539;CAB99103;CAH18262;EAW70123;NP_065811;Q9P2P5;XP_006712709;XP_006712710;XP_006712711;XP_006712712 Hs.654742 1341261;1739269;1758133;1758211;1758729;1784320;1847416;1848859;1857018;2110597;2110947;2157626 AFMA305ZG1;B358YB1;D2S1929E;D2S214E;D2S2387;D2S2627;NEDL2__7325;SHGC-147494;SHGC-147673;SHGC-149338;SHGC-36529;SHGC-83723 DKFZp686M17164;NEDL2 E3 ubiquitin-protein ligase HECW2;HECT, C2 and WW domain-containing protein 2;NEDD4-like E3 ubiquitin-protein ligase 2;NEDD4-related E3 ubiquitin ligase NEDL2;OTTHUMP00000205668;OTTHUMP00000205738 protein-coding ENSG00000138411 HGNC:29853 17099 PROVISIONAL 7207545 HEIH hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA 5 5 q35.3 180256954 180258618 - 180829954 180831618 - 12477932;16344560;21769904;23359273 100859930 ABBA01010085;AC022413;AK026101;AMYH02012913;BC009038;BC011459;BC019622;BC021206;BC032387;BC036631;BC047401;BC068028;BF512686;DA988408;NR_045680 Hs.655606 2185180 STS-H87270 HCCAT2;LINC-HEIH;LINC00848;lncRNA-HEIH APPROVED ncrna ENSG00000278970 HGNC:45049 VALIDATED 1603204 HEG1 heart development protein with EGF-like domains 1 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN cardiac atrium morphogenesis (inferred); cell-cell junction assembly (inferred); endothelial cell morphogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell-cell junction (inferred); external side of plasma membrane (inferred); extracellular region (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 3 3 3 q21.2 123091267 123182155 - 124684554 124774802 - 124965710 125055958 - 6480464;8554872 10574462;12477932;14680629;16303743;19151727;20379614;23000965;23007647;23814056;24643410 57493 H7C4K2;H7C4M4;Q9ULI3 AB033063;ABBA01016431;AC026342;AC092983;AC117488;AF173887;AK074987;AMYH02007568;AMYH02007569;BC004539;BC014053;BC047661;BC067235;DR003209;JA738673;NM_020733;XM_005247666 AAH04539;AAH67235;AAQ13634;BAA86551;BAC11336;CCF76989;NP_065784;Q9ULI3;XP_005247723 Hs.477420 1669518;1687864;1720003;1721873;1766415;1767473;1767475;2128849;2150220;2165259;2165261;5094346;5105621 A005T15;A005T39;D3S3919;G20477;G20489;G54625;G59967;RH123979;RH78887;RH80409;SHGC-132424;SHGC-149756;SHGC-31348 HEG;KIAA1237;MGC72175;MST112;MSTP112 HEG homolog 1;OTTHUMP00000215555;heart of glass APPROVED protein-coding ENSG00000173706 HGNC:29227 614182 VALIDATED 1352203 HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 ENCODES a protein that exhibits ligase activity (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN protein ubiquitination (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); arsane (ortholog) 7 7 7 p13 43142126 43592827 + 43152198 43603213 + 43112599 43563614 + 1580863;6480464;8554872 11244092;12168954;12477932;12690205;14684739;14702039;16713569;18029348;18223681;19144635;20976258;21078624;21108931;21283621;21572392;21906983;23251661;23535033;24121790;24163370;9205841 23072 H7C3Q2;Q76N89 AB002320;AB048365;ABBA01058179;ABBA01058180;ABBA01058181;ABBA01058182;ABBA01058183;ABBA01058184;ABBA01058185;ABBA01058186;AC004455;AC004692;AC005537;AC006365;AC011738;AK022679;AK090799;AK294918;AL079731;AL536075;AMYH02015606;AMYH02015607;AMYH02015608;AMYH02015609;BC151227;CH236951;CH471073;NM_001287059;NM_015052;XM_005249665;XM_006715670;XM_006715671;XM_006715672;XM_006715673 AAI51228;BAA20780;BAB13352;BAG52230;BAG58003;EAL24007;EAW94158;EAW94159;EAW94160;NP_001273988;NP_055867;Q76N89;XP_005249722;XP_006715733;XP_006715734;XP_006715735;XP_006715736 Hs.164453 1337816;1341479;1664295;1677414;1691708;1722747;1747975;1754705;1756603;1772575;1779210;1852706;1856559;2108837;2115659;2117660;2146221;2174744;2179648;2183441;2183693;5491551;5491703;7183423;7186184 A006U39;D7S1767;D7S2318;D7S2342;D7S2428;D7S678;EST209747;G42172;G60312;G66798;GDB:1317398;GDB:1317404;GDB:1317410;L30017;MARC_17638-17639:1019144663:1;MARC_8191-8192:996688382:1;NEDL1_9301;RH11865;RH92286;SHGC-133067;SHGC-143639;SHGC-152797;STS-R45677 KIAA0322;NEDL1;hNEDL1 E3 ubiquitin-protein ligase HECW1;HECT type E3 ubiquitin ligase;HECT, C2 and WW domain-containing protein 1;NEDD4-like E3 ubiquitin-protein ligase 1;NEDD4-like ubiquitin-protein ligase 1;OTTHUMP00000159167;OTTHUMP00000207413 protein-coding HGNC:22195 11385 610384 VALIDATED 1346644 HELLS helicase, lymphoid-specific This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014] 10 10 10 q24.2 90045660 90101938 + 96305535 96362628 + 94545767 94602871 + 1580863;6480464 10910076;12477932;12880961;14702039;15105378;15164054;15305370;15489334;17314511;17643375;17967891;18948754;19064572;19471022;19561196;20400365;21139048;21453717;21549307;21832049;21890473;21906983;22053931;22157815;22505724;22946062;23383273;24816145;8619474;8889549;9110174;9878251 3070 B1ALG6;Q0VGL2;Q76H82;Q9NRZ9;Q9NW36 AB074174;AB102716;AB102717;AB102718;AB102719;AB102720;AB102721;AB102722;AB102723;AB113248;AB113249;ABBA01021848;ABBA01021849;ABBA01021850;AC090439;AF155827;AK001201;AK022928;AK308331;AK314485;AL138759;AMYH02023573;AMYH02023574;AMYH02023575;AY007108;BC015477;BC029381;BC030963;BC031004;BC068440;BC105606;BC111789;BX538033;CH471066;DC423372;NM_001289067;NM_001289068;NM_001289069;NM_001289070;NM_001289071;NM_001289072;NM_001289073;NM_001289074;NM_001289075;NM_018063;XM_006717811 AAF82262;AAG01987;AAH15477;AAH29381;AAH30963;AAH31004;AAI05607;AAI46309;ACE86702;ACE87386;BAA91550;BAD10844;BAD10845;BAD10846;BAD10847;BAD10848;BAD10849;BAD10850;BAD10851;BAD24804;BAD24805;BAE45737;BAG37088;CAD97978;EAW50026;EAW50027;EAW50028;EAW50029;EAW50030;EAW50031;EAW50032;EAW50033;EAW50034;EAW50035;EAW50036;EAW50037;EAW50038;NP_001275996;NP_001275997;NP_001275998;NP_001275999;NP_001276000;NP_001276001;NP_001276002;NP_001276003;NP_001276004;NP_060533;Q9NRZ9;XP_006717874 Hs.655830 1685926;2185176;2217416;5117897 GDB:631813;HELLS_3381;RH93667;STS-N95450 FLJ10339;LSH;Nbla10143;PASG;SMARCA6 HELLS {ECO:0000312|HGNC:HGNC:4861};OTTHUMP00000020127;SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6;SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6;lymphoid-specific helicase;proliferation-associated SNF2-like protein APPROVED protein-coding ENSG00000119969 HGNC:4861 07232 603946 REVIEWED 7115356 HELLPAR HELLP associated long non-coding RNA q23 23093777 101101692 JX088243 Hs.160562 LINC-HELLP;lncHELLP ncrna HGNC:43984 614985 2292703 HELT helt bHLH transcription factor ENCODES a protein that exhibits DNA binding (inferred); protein homodimerization activity (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN central nervous system development (inferred); GABAergic neuron differentiation in basal ganglia (inferred); multicellular organism growth (inferred); FOUND IN nucleus (inferred); transcription factor complex (inferred); INTERACTS WITH arsenite(3-); cadmium atom 4 4 4 q35.1 183267003 183268846 + 185940001 185941958 + 185018847 185020804 + 6480464 12477932;14764602;15375612;15489334;15815621;16644143;17611227;20508642 391723 A6NFD8 ABBA01070524;AC093824;AMYH02010657;BC140795;BC144567;BC144568;BC144569;CH471056;NM_001029887;NM_001300781;NM_001300782;XM_005262989;XM_005262990 A6NFD8;AAI40796;AAI44568;AAI44570;AAI60136;EAX04657;EAX04658;NP_001025058;NP_001287710;NP_001287711;XP_005263046;XP_005263047 Hs.531242 5492355 Helt HCM1228;HESL;Mgn;bHLHb44 HES-like;HES/HEY-like transcription factor;Heslike;Hey-like transcription factor;Hey-like transcriptional repressor;Megane bHLH factor;OTTHUMP00000218305;OTTHUMP00000218306;hairy and enhancer of split-related protein HELT APPROVED protein-coding ENSG00000187821 HGNC:33783 VALIDATED 1605893 HELQ helicase, POLQ-like HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008] 4 4 4 q21.23 81618948 81667478 - 84328496 84377162 - 83407343 83455948 - 6480464;8554872 11751861;12477932;12794064;16344560;17549794;18029348;18270339;19995904;20379614;20800603;21398521;21437268;22267201;22939629;24005565;24658182 113510 E3W980;E3W982;Q8TDG4 AA150438;ABBA01063465;AC096768;AF436845;AI627810;AK126255;AK128665;AK308395;AK312725;AL512702;AMYH02009618;BC011863;BC015428;BC065814;BC095473;BC111502;BM986846;CH471057;CK000270;CK905810;DB081240;NM_001297755;NM_001297756;NM_001297757;NM_001297758;NM_001297759;NM_133636;NR_123737;XM_005262711;XM_005262712;XM_005262713;XM_005262714;XM_005262716;XM_006714076;XM_006714077 AAH15428;AAH95473;AAI41525;AAL85274;BAC87559;CAH56359;EAX05934;EAX05935;EAX05936;NP_001284684;NP_001284685;NP_001284686;NP_001284687;NP_001284688;NP_598375;Q8TDG4;XP_005262768;XP_005262769;XP_005262770;XP_005262771;XP_005262773;XP_006714139;XP_006714140 Hs.480101 1336954;1647254;2142849 D4S2520E;D6S1576;SHGC-36904 HEL308;MGC20604 DNA helicase HEL308;OTTHUMP00000160977;OTTHUMP00000219793;POLQ-like helicase;helicase POLQ-like;mus308-like helicase APPROVED protein-coding ENSG00000163312 HGNC:18536 08422 606769 VALIDATED 1344471 HELB helicase (DNA) B This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. [provided by RefSeq, Mar 2012] 12 12 12 q14.3 66360579 66396179 + 66696335 66737423 + 66302555 66343643 + 1580863;6480464;8554872 11557815;12181327;12477932;17148452;21890473;22194613;25015289;8889549 92797 F5H1I4;Q8NG08 AA070301;ABBA01026574;AC078889;AF319995;AK290894;AMYH02026679;AMYH02026680;BC037946;BC143409;BC143411;CH471054;DN997712;NM_033647;XM_005269234;XR_245966 AAI48593;AAI57020;AAM73554;BAF83583;EAW97165;EAW97166;EAW97167;NP_387467;Q8NG08;XP_005269291 Hs.505941 1743245;1747755;2148331 G66813;GDB:312742;SHGC-34947 hDHB DNA helicase B;OTTHUMP00000239916;OTTHUMP00000239918;OTTHUMP00000239919;helicase B APPROVED protein-coding ENSG00000127311 HGNC:17196 09979 614539 REVIEWED 1604565 HELZ2 helicase with zinc finger 2, transcriptional coactivator The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 58869799 58886258 - 62189439 62205592 - 63558086 63574239 - 6480464;8554872 10737800;11214970;11780052;12168954;12189208;12477932;14702039;15302935;16009940;16147992;16239304;19946888;21139048;21906983;22446964;22586326;23525231;24457600 85441 Q4VXQ0;Q9BYK8 AB051556;AB201715;AB232667;ABBA01021403;AF517673;AK023724;AK055611;AK074171;AL121829;AMYH02037464;BC035130;BC036883;BC104974;BC112023;BC150283;BE062855;BE731343;BQ707207;CH471077;NM_001037335;NM_033405 AAI04975;AAI12024;AAI50284;AAM74197;BAB21860;BAB70969;BAB84997;BAE46995;BAE46996;EAW75255;EAW75256;EAW75257;NP_001032412;NP_208384;Q9BYK8 Hs.517180 5037552 D8S2279 FLJ00244;KIAA1769;MGC132634;MGC138228;PDIP-1;PDIP1;PRIC285 ATP-dependent helicase PRIC285;OTTHUMP00000031553;OTTHUMP00000214531;PPAR gamma DBD-interacting protein 1;PPAR-alpha-interacting complex protein 285;PPAR-gamma DBD-interacting protein 1;PPAR-gamma DNA-binding domain-interacting protein 1;PPARG-DBD-interacting protein 1;PPARgamma-DNA-binding domain-interacting protein1;PRIC complex;helicase with zinc finger domain 2;peroxisomal proliferator activated receptor A interacting complex 285;peroxisomal proliferator-activated receptor A interacting complex 285;peroxisomal proliferator-activated receptor A-interacting complex 285 kDa protein;peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285 kD subunit APPROVED protein-coding ENSG00000130589 HGNC:30021 11459 611265 REVIEWED 1316013 HELZ helicase with zinc finger HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008] 17 17 17 q24.2 61639217 61813834 - 65066554 65241349 - 67070438 67245231 - 1580863;6480464;8554872 10471385;12477932;12615363;12691822;15235609;15302935;15342556;17000644;19322201;19946888;20020773;20378664;20936779;21139048;21150319;21765940;21890473;21906983;21963094;21988832;22586326;23000965;23443559;24255178;24457600;24816145;7584044 9931 J3KS59;J3KT20;J3QRR8;J3QS41;P42694 AA885317;ABBA01029009;ABBA01029010;ABBA01029011;ABBA01029012;ABBA01029013;ABBA01029014;AC005544;AC007448;AI271466;AK310217;AL110161;AL832149;AMYH02033834;AMYH02033835;AMYH02033836;AMYH02033837;AMYH02033838;BC056895;BC094881;BC130582;BC144083;BP353830;CH471099;D29677;NM_014877;XM_005257888;XM_005257889;XM_005257890;XM_006722214;XM_006722215;XM_006722216 AAH56895;AAH94881;AAI30583;AAI44084;BAA06147;EAW89023;EAW89024;NP_055692;P42694;XP_005257945;XP_005257946;XP_005257947;XP_006722277;XP_006722278;XP_006722279 Hs.370140;Hs.569824;Hs.596366 1682774;1729707;1738971;1777218;2109385;2122088;2172600;2182323;5022450;5037552;5491479 D10S275;D17S1599;D17S584;D8S2279;HELZ__7570;L18010;MARC_15239-15240:1012593750:1;RH47023;RH92736;SHGC-10970;STS-D29677 DHRC;DKFZp586G1924;DRHC;HUMORF5;KIAA0054;MGC163454 down-regulated in human cancers protein;helicase with zinc finger domain;probable helicase with zinc finger domain APPROVED protein-coding ENSG00000198265 HGNC:16878 10452 606699 VALIDATED 1351335 HEMGN hemogen INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cadmium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 9 9 9 q22.33 71203325 71221386 - 100689073 100707197 - 97926791 97944915 - 1580863;6480464;8554872 11404085;11483580;12477932;14648837;14730214;15164053;15332117;15489334;15920494;16344560;16437149;17671716;18599389;19197348;19779022;20350937;20564185;21988832;22712502 55363 Q9BXL5 ABBA01042925;ABBA01042926;AF116617;AF130060;AF228713;AF306681;AF306682;AF306683;AF322875;AK292441;AL354726;AL499604;AL833094;AMYH02021313;AMYH02021314;AY244805;AY255672;BC048324;BG571634;BG717036;CH471105;DA485094;HY026328;NM_018437;NM_197978;XM_005252086;XM_005252088;XM_006717174 AAF67133;AAF71041;AAG35488;AAH48324;AAK26295;AAP75762;AAP81221;BAF85130;EAW58861;EAW58862;EAW58863;NP_060907;NP_932095;Q9BXL5;XP_005252143;XP_005252145;XP_006717237 Hs.176626 1775331;2137381;2173305 RH16211;SHGC-33415;SHGC-34470 CT155;EDAG;EDAG-1;NDR OTTHUMP00000021758;erythroid differentiation-associated gene protein;hemopoietic gene protein;negative differentiation regulator protein protein-coding ENSG00000136929 HGNC:17509 17100 610715 VALIDATED 1602307 HENMT1 HEN1 methyltransferase homolog 1 (Arabidopsis) ENCODES a protein that exhibits O-methyltransferase activity (ortholog); RNA methyltransferase activity (ortholog); INVOLVED IN piRNA metabolic process (ortholog); RNA methylation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN P granule (ortholog); INTERACTS WITH diazinon; hydralazine; methylmercury chloride 1 1 1 p13.3 107460828 107474037 - 109190910 109204148 - 108648288 108661526 - 6480464;8554872 12477932;14702039;15342556;17207965;19850743;21963094;22505724 113802 Q5T8I9;X6RGV9 ABBA01068353;ABBA01068354;AK055087;AK310152;AK311542;AL160171;AMYH02001699;BC012198;BC088366;BP378034;CH471122;DB510959;NM_001102592;NM_144584;XM_005270411 AAH12198;AAH88366;ADQ32758;BAB70852;EAW56324;EAW56325;EAW56326;NP_001096062;NP_653185;Q5T8I9;XP_005270468 Hs.7962 1650287;2169816;2169818 A002A28;G19856;RH12040 C1orf59;FLJ30525;HEN1;MGC111091;RP11-256E16.2 HEN1 methyltransferase homolog;OTTHUMP00000012824;OTTHUMP00000012825;OTTHUMP00000012826;hypothetical protein LOC113802;small RNA 2'-O-methyltransferase APPROVED protein-coding ENSG00000162639 HGNC:26400 08086 612178 VALIDATED 1605560 HEPACAM hepatic and glial cell adhesion molecule The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011] 11 11 11 q24.2 121949291 121966450 - 124789089 124806308 - 124919193 124936412 - 6480464;8699517;7240710;8554872 12477932;12971969;15885354;15917256;16344560;18082421;18293412;18845560;19059381;19142852;19507233;20205955;20237496;20301707;20514407;20593288;20628239;21419380;21618595;21624973;22906662;23793458;24202401;24324362;24501781;24580998;24645843;24811146 220296 Q14CZ8 ABBA01031248;ABBA01031249;AK098396;AK122595;AL834419;AMYH02025728;AMYH02025729;AMYH02025730;AP003501;AY047587;BC037810;BC104831;BC113562;CH471065;DA239226;NG_029603;NM_152722;XM_005271449;XM_006718786 AAI04832;AAI13563;AAQ93018;BAC05297;BAC85486;CAD39081;EAW67614;EAW67615;EAW67616;NP_689935;Q14CZ8;XP_005271506;XP_006718849 Hs.745294 2175375;2185212 2046;RH78168 FLJ25530;MLC2A;MLC2B GlialCAM;HEPACAM {ECO:0000312|EMBL:AAI13563.1};OTTHUMP00000231540;cancer susceptibility;glial cell adhesion molecule;hepatocyte cell adhesion molecule APPROVED protein-coding ENSG00000165478 HGNC:26361 08068 611642;613925;613926 REVIEWED 1343848 HEMK1 HemK methyltransferase family member 1 ENCODES a protein that exhibits DNA binding (inferred); N-methyltransferase activity (inferred); protein methyltransferase activity (inferred); INVOLVED IN DNA methylation (inferred); protein methylation (inferred); PARTICIPATES IN histidine metabolic pathway; tyrosine metabolic pathway; FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; cobalt dichloride 3 3 3 p21.3 50579715 50595228 + 50606583 50622422 + 50569152 50584991 + 1580863;6480464;6907045 10690633;12477932;15489334;18541145;20877624 51409 F2Z2F0;H7C258;Q9Y5R4 ABBA01024543;AC096920;AF131220;AF172244;AK025973;AK124369;AK314023;AL137466;AMYH02006773;BC000781;BX537562;CH471055;NM_016173;XM_005265218;XM_005265219 AAD26417;AAD51328;AAH00781;ABM83079;ABM83084;ABM86279;BAG36734;EAW65125;EAW65126;NP_057257;Q9Y5R4;XP_005265275;XP_005265276 Hs.517987;Hs.599362 2131233;5037552 D8S2279;SHGC-64830 FLJ22320;HEMK;MTQ1 HEMK homolog 7kb;OTTHUMP00000210799;OTTHUMP00000210800;OTTHUMP00000210801;m.HsaHemKP protein-coding ENSG00000114735 HGNC:24923 13645 VALIDATED 1345614 HEPHL1 hephaestin-like 1 ENCODES a protein that exhibits ferroxidase activity; INVOLVED IN copper ion transport (inferred); oxidation-reduction process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper atom; copper(0); 1-naphthyl isothiocyanate (ortholog) 11 11 11 q21 91042195 91135169 + 93754378 93847374 + 94021212 94114208 + 6480464;8554872 20379614;23251661 341208 Q6MZM0 AB231719;ABBA01040034;ABBA01040035;AMYH02025369;AMYH02025370;AMYH02025371;AP002795;AP003966;BX641008;EG328157;NM_001098672 BAE46880;CAE46009;NP_001092142;Q6MZM0 Hs.669645 DKFZp686F22190 OTTHUMP00000236757;hephaestin-like protein 1 protein-coding ENSG00000181333 HGNC:30477 VALIDATED 1602173 HEPACAM2 HEPACAM family member 2 INVOLVED IN centrosome organization; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; Golgi apparatus; midbody; INTERACTS WITH fonofos; parathion; terbufos 7 7 7 q21.3 87522416 87560293 - 92817899 92855783 - 93188586 93226519 - 6480464;8554872 12477932;12975309;14702039;16344560;19358830;22864114 253012 A8MVW5;C9JN07 ABBA01045794;AC000119;AC002453;AK096002;AK298361;AMYH02016278;AY358345;BC046365;BC136300;BC136301;BC139906;CH236949;DA426282;H75859;KF458519;NM_001039372;NM_001288804;NM_001288810;NM_198151 A8MVW5;AAI36301;AAI36302;AAI39907;AAQ88711;BAG53196;BAG60603;NP_001034461;NP_001275733;NP_001275739;NP_937794 Hs.443169 1338863;1699708;1721601;2146189;2163152;2169323;2177391 D7S1762;D7S623;G33891;G59810;RH103459;RH36322;SHGC-23257 MIKI OTTHUMP00000162525;OTTHUMP00000197018;OTTHUMP00000208681;OTTHUMP00000208682;mitotic kinetics regulator protein-coding ENSG00000188175 HGNC:27364 14138 614133 VALIDATED 2298739 HEPN1 hepatocellular carcinoma, down-regulated 1 This gene is expressed in the liver, and encodes a short peptide that is localized predominantly to the cytoplasm. Transient transfection studies showed that expression of this gene significantly inhibited cell growth, and it may have a role in apoptosis. Expression of this gene is downregulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). Also to note is that this gene maps to the 3'-noncoding region of HEPACAM gene (GeneID:220296) on the antisense strand (PMID:15885354). [provided by RefSeq, Aug 2011] 11 11 11 q24 121949292 121950719 + 124789146 124790573 + 124919250 124920677 + 6480464 12971969;15489334;15885354;15917256;23548416 641654 Q6WQI6 ABBA01031249;AMYH02025728;AP003501;AY275431;NG_029603;NM_001037558 AAI48522;AAI56584;AAQ19120;NP_001032647;Q6WQI6 Hs.159863 2175375;2185212 2046;RH78168 HEPACAM opposite strand 1;OTTHUMP00000231541;cancer susceptibility gene HEPN1;putative cancer susceptibility gene HEPN1 protein APPROVED protein-coding ENSG00000221932 HGNC:34400 611641 REVIEWED 1314942 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] 15 15 15 q22 40780251 41005485 - 63900817 64126148 - 63608618 63833948 - 1580863;6480464;6907045;8554872 10516438;12477932;12650930;14702039;14960311;15231748;15642342;16051665;16344560;16464865;17353931;19618402;21139048;21835309;21890473;21987572;22505724;22863883;23000965;23287719;23438482;24155239;24816145;8619474;8861955;8889548;9110174;9233772;9949213 8925 H0YK45;H0YK60;H0YKW7;H0YL07;H0YL74;H0YLG2;H0YMH0;H0YNB1;Q15751 ABBA01038905;ABBA01038906;ABBA01038907;ABBA01038908;ABBA01038909;AC015914;AC073167;AC118274;AC247044;AF131824;AK091624;AK226162;AK296690;AK310519;AL041045;AMYH02030589;AMYH02030590;AMYH02030591;AW576595;AY030081;BC040929;BM727478;BQ216911;BQ883457;CH471082;DB117652;NM_003922;U50078;XM_005254742;XM_005254743;XM_005254746;XM_005254747;XM_006720728;XR_243129 AAD12586;AAH40929;BAG59284;EAW77654;EAW77655;EAW77656;NP_003913;Q15751;XP_005254799;XP_005254800;XP_005254803;XP_005254804;XP_006720791 Hs.210385 1683136;1721101;1733650;1765029;1778611;1783254;2116755;2123856;2129507;2159012;2174295;2182758;5109362;5121804;5121806 A002A45;D15S620E;D15S790;D17S1239;G19869;G59535;RH45357;RH46471;RH80643;SHGC-148576;SHGC-155152;SHGC-30742;STS-H16734;STS-U50078;WI-20175 p532;p619 HECT domain and RCC1-like domain-containing protein 1;guanine nucleotide exchange factor p532;hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1;hect domain and RCC1-like domain 1;probable E3 ubiquitin-protein ligase HERC1 APPROVED protein-coding ENSG00000103657 HGNC:4867 06894 605109 REVIEWED 1348344 HERC2P1 hect domain and RLD 2 pseudogene 1 15 15 15 q13 4 319 + 28573631 28580323 + 28328485 28335177 + 9730612;9949213 8917 AC091304;AC138747;AC243660;NG_005644 D15F37S2 pseudo HGNC:4869 INFERRED 734284 HEPH hephaestin This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X q11-q12 65729951 65834741 + 65382433 65487231 + 66162549 66267389 + 6480464;8554872 10843811;11891802;11932491;12168954;12477932;12949720;12975309;14702039;15146197;15342556;15489334;16137899;16274220;17486601;18022819;19452451;20019163;20587610;20932654;21802403;22170436;22268729;22503983;22666411;22961397;23640881;9734811;9988272 9843 E7ES21;F8WBZ8;Q5JZ07;Q5JZ08;Q9BQS7 AB014598;ABBA01067098;ABBA01067099;ABBA01067100;ABBA01067101;ABBA01067102;ABBA01067103;ABBA01067104;ABBA01067105;ABBA01067106;ABBA01067107;ABBA01067108;ABBA01067109;AF075034;AF148860;AJ296162;AK022472;AK294278;AK295456;AK307761;AK311043;AK316231;AL030998;AL157698;AMYH02039620;AMYH02039621;AMYH02039622;AY358990;BC011561;BP282214;CH471132;CN361718;DQ496100;KF459144;KF459146;NG_016265;NM_001130860;NM_001282141;NM_014799;NM_138737;XM_006724719;XM_006724720;XM_006724721;XM_006724722 AAH11561;AAK08131;AAQ89349;ABF47089;ABM84554;ABW03479;ACE86497;ACE87178;BAA31673;BAG57564;BAG58390;BAH14602;CAC35365;EAX05384;EAX05385;EAX05386;EAX05387;EAX05388;NP_001124332;NP_001269070;NP_055614;NP_620074;Q9BQS7;XP_006724782;XP_006724783;XP_006724784;XP_006724785 Hs.31720 1334580;1680857;1702638;1729335;1729363;2106491;2186167;5095068;7183684 AL031099;DXS1159;DXS1194;G64106;G64132;HEPH;HEPH__6713;RH99071 CPL;KIAA0698 OTTHUMP00000023443;OTTHUMP00000023444;OTTHUMP00000023445;OTTHUMP00000023446;OTTHUMP00000210958;OTTHUMP00000210959 APPROVED protein-coding ENSG00000089472 HGNC:4866 02159 300167 REVIEWED 5490929 HERC2P10 hect domain and RLD 2 pseudogene 10 INTERACTS WITH dasatinib (anhydrous) 15 15 15 q13.2 8810878 8820086 + 31110239 31119986 + 30818036 30827783 + 6480464 390561 ABBA01038320;AC004460;AC091057;AC244012;DN831747;NR_072991 AAC06338;AAC06339 Hs.721293 1772526;1772528 A006B10;G20670 pseudo HGNC:39056 VALIDATED 8549353 HERC2P11 hect domain and RLD 2 pseudogene 11 15 15 28820132 28824893 - 28561752 28579747 - 100996738 AC138749;AC243913 pseudo HGNC:49882 MODEL 1348486 HERC2P2 hect domain and RLD 2 pseudogene 2 INTERACTS WITH elemental selenium; selenium atom 15 15 15 q11.2 8830167 8833648 - 23282265 23378259 - 22494837 22590831 + 6480464 12477932;14702039;1608955;16344560;17043677;19615732;9205841;9730612;9949213 400322 Q68DG8 AA976147;AB002391;ABBA01001728;ABBA01120937;ABBA01242375;AC025138;AC091565;AC100757;AC136687;AF041080;AF041081;AK095014;AK307870;AK308640;AK309255;AL512684;AMYH02030042;AMYH02030043;AMYH02030044;AMYH02030045;AMYH02030046;AMYH02030047;AMYH02030048;AMYH02030049;AMYH02030050;AMYH02030051;AMYH02030052;AMYH02030053;AMYH02030054;AMYH02030055;AMYH02030056;AMYH02030057;AMYH02030058;AMYH02030059;AMYH02030060;AMYH02030061;AMYH02030062;AMYH02030063;AMYH02030064;AMYH02030065;AMYH02030066;AMYH02030067;AMYH02030068;AMYH02030069;AMYH02030070;BC128547;CR749409;DB069140;NR_002824 BAA20846;CAH18252 Hs.458334;Hs.531509;Hs.732630 1660929;1690672;1772526;1772528;5037552;5115178;5118444 A006B10;D11S3316;D15S1276;D8S2279;G20670;RH36769;RH66620 D15F37S3;MN7 pseudo ENSG00000276550 HGNC:4870 VALIDATED 1606115 HERC2P3 hect domain and RLD 2 pseudogene 3 ENCODES a protein that exhibits metal ion binding (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN protein ubiquitination (inferred) 15 15 15 q11.1 919 1980 - 20613649 20711433 - 20408396 20506180 - 12477932;15146197;1608955;23000965;9730612;9949213 283755 Q9BVR0 ABBA01004289;ABBA01179499;AC026495;AC138748;AK294470;AK294795;AMYH02029983;AMYH02029984;AMYH02029985;AMYH02029986;BC000975;BC033888;BC094757;BC144698;CN398998;NR_036432;X69636 AAI66678;BAH11780;BAH11887;Q9BVR0 Hs.608918 D15F37S4 pseudo ENSG00000180229 HGNC:4871 18766 VALIDATED 1343541 HERC2P4 hect domain and RLD 2 pseudogene 4 16 16 p11.2 32187411 32199434 - 32170043 32188113 - 12477932;15231747;9730612 100289574 AA782998;ABBA01011275;AC133485;AK300387;BC038215;BX338613;BX338614;BX371795;NR_109773 BAG62121 Hs.531536;Hs.567926;Hs.728036 D16F37S5 pseudo HGNC:4872 VALIDATED 1317498 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012] 15 15 15 q13 6513422 6701708 - 28356183 28567313 - 28111037 28322167 - 1580863;6480464;6907045;8699517;7240710;8554872 10441737;10720573;10737800;11337467;11752456;12477932;14702039;15146197;15203218;15231748;15840729;16344560;16751776;17081983;17148452;17353931;17952075;18172690;18252221;18252222;18438405;18483556;18528436;19068216;19174780;19208107;19343720;19422935;19472299;19615732;19913121;19946888;20023648;20176734;20301505;20304803;20360068;20379614;20457063;20463881;20585627;20616560;20628086;20629734;20631078;20886065;20936779;21110914;21139048;21197618;21493713;21775519;21890473;21906983;22124266;22190034;22234890;22261722;22451720;22496338;22508508;22561518;22586326;22645313;22814251;23000965;23065719;23118974;23178497;23243086;23443559;23502783;23548203;23601698;23602568;24722987;24778179;24855649;8889548;9205841;9949213 8924 A8KAQ8;H3BRG9;H3BUQ1;O95714 ABBA01044286;ABBA01044287;ABBA01044288;ABBA01044289;ABBA01044290;ABBA01044291;ABBA01044292;ABBA01044293;AC091304;AC126332;AC135329;AC243653;AC243660;AF071172;AF224243;AF224245;AF224249;AF224251;AF224252;AF224253;AF224255;AF224257;AF225401;AF225404;AF225407;AF225409;AI820017;AK122977;AK125229;AL834183;AMYH02030122;AU100235;AV692570;AW504156;AW897649;BC015486;BC045544;BC142951;BC148318;BF332492;BQ059143;BX440995;BX451582;CD619122;CF135750;CN302846;CX784863;DA868501;DQ570449;NG_016355;NM_004667;XM_005268276;XM_005268277;XM_006720726;XM_006720727 AAD08657;AAI48319;AAO27473;AAO27474;AAO27475;AAO27476;AAO27477;AAO27478;AAO27479;AAO27480;AAO27481;AAO27482;AAO27483;AAO27484;CAD38880;NP_004658;O95714;XP_005268333;XP_005268334;XP_006720789;XP_006720790 Hs.434890;Hs.610412;Hs.741019 1751033;1765385;1794426;1794428;2108135;2115225;2157195;2181941;5015961;5022322;5037552 D11S2560;D15S1477;D15S737;D8S2279;HERC2_8875;PMC311424P1;PMC311424P2;RH11271;RH48411;SHGC-104948;SHGC-148873 D15F37S1;DKFZp547P028;KIAA0393;MRT38;SHEP1;jdf2;p528 E3 ubiquitin-protein ligase HERC2;OTTHUMP00000159564;hect domain and RCC1-like domain-containing protein 2;hect domain and RLD 2;probable E3 ubiquitin-protein ligase HERC2 APPROVED protein-coding ENSG00000128731 HGNC:4868 06905 227220;605837;615516 REVIEWED 1346601 HERC2P5 hect domain and RLD 2 pseudogene 5 16 16 16 p11.2 30267097 30285221 - 32752565 32786789 + 32741244 32775468 + 9730612 388254 AC137761;AC138907;AMYH02031861;NG_005349 D16F37S6 pseudo HGNC:4873 INFERRED 1350245 HERC2P7 hect domain and RLD 2 pseudogene 7 15 15 15 q11.2 1218524 1218918 - 23390722 23393943 + 22479153 22482374 - 9949213 100132101 AC100757;AC136687;AF071178;AMYH02030070;AMYH02030071;BC012949;NR_036470 Hs.146211 5022200;5022578;5022651;5037552;5111995 D11S2921;D1S1423;D8S2279;G44298;L18426 pseudo HGNC:4875 VALIDATED 1348261 HERC2P6 hect domain and RLD 2 pseudogene 6 15 15 15 q11.2 4 140 + 23675986 23680357 + 23430839 23435210 + 10417280;9949213 8918 ABBA01048674;AC100756;AF140516;AF140517;AMYH02030084;NG_005348 pseudo HGNC:4874 INFERRED 4140028 HERC2P8 hect domain and RLD 2 pseudogene 8 16 16 16 p11.2 30267097 30284145 - 33106353 33139410 - 33095032 33128089 - 9730612 440366 AC145350;NG_009637 pseudo HGNC:38747 INFERRED 1602146 HERC2P9 hect domain and RLD 2 pseudogene 9 15 15 15 q13.1 6598363 6617823 - 28899588 28930410 + 28654442 28685264 + 6480464 10332034;10737800;12477932;14702039;15146197;15851553;21832049;9205841 440248 ABBA01038320;ABBA01200585;AC055876;AC135348;AC243951;AF129930;AK056876;AK293512;AK293845;AL832775;AW901310;BC047911;BC128548;BE699021;BI007057;BM464322;NR_036443 BAG56995;BAG57243 Hs.531509;Hs.732630 1660929;1690672;1772526;1772528;5014051;5015619;5016478;5021872;5022463;5022651;5037552;5115178;5118444 A006B10;D11S2921;D11S3114;D11S3316;D15S1276;D3S1673;D8S2278;D8S2279;G20670;GDB:434012;RH36769;RH66620;sY3084 FLJ59185 APPROVED pseudo ENSG00000206149 HGNC:30495 18634 PROVISIONAL 1351757 HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] 4 4 4 q21 86810333 86926068 + 89513574 89629693 + 88592423 88708542 + 1580863;6480464;6907045;8554872 10702688;11163799;12477932;15676274;16196087;16344560;18029348;18535780;20379614;21139048;21890473;21900206;21906983;21987572;21988832;22124266;7584026;7584028;9575161 8916 B4DK41;C9J6Z1;C9J8E7;C9JFL2;C9JKA7;D6RAT5;H0Y8G9;Q15034 ABBA01063555;ABBA01063556;ABBA01063557;AC098582;AC108065;AK289990;AK296379;AK296397;AMYH02009697;AMYH02009698;BC038960;BE044624;BE044630;BQ925135;CH471057;D25215;DA333248;NM_001271602;NM_014606;XM_005263327;XM_005263328;XM_005263329;XM_005263330;XM_005263331;XM_005263332;XM_006714405 AAH38960;AAI66672;AAY41038;BAA04945;BAF82679;BAG59053;BAG59064;EAX06024;NP_001258531;NP_055421;Q15034;XP_005263384;XP_005263385;XP_005263386;XP_005263387;XP_005263388;XP_005263389;XP_006714468 Hs.35804 1336764;1649435;1654003;1676674;1705270;1735402;1763731;1768501;1857638;2128520;2130681;2139078;2164869;2178996;7185311 1616;B337WH9;D4S1138;D4S1563;D4S2576E;D4S2809;D4S3162;RH12317;RH17389;RH25270;RH91176;SHGC-147404;SHGC-59261;SHGC-78587 KIAA0032 HECT domain and RCC1-like domain-containing protein 3;OTTHUMP00000197355;hect domain and RLD 3;probable E3 ubiquitin-protein ligase HERC3 APPROVED protein-coding ENSG00000138641 HGNC:4876 16093 605200 REVIEWED 1346007 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Jul 2008] 4 4 4 q22.1 86674807 86724000 + 89378181 89427334 + 88457117 88506170 + 1580863;6480464;8554872 10581175;11752456;12202226;12477932;14702039;15331633;15676274;16009940;16407192;16815975;16884686;17471231;18057259;18535780;20308324;20581239;21139048;21890473;21987572;22093708;22405323;22424883;22505724;22586326;23538710;24693865;24816145 51191 B4DXV3;E9PBL0;Q9UII4 AB027289;ABBA01063550;ABBA01063551;ABBA01063552;ABBA01063553;AC083829;AI336946;AK093155;AK301756;AK302142;AMYH02009695;AMYH02009696;AV657231;AY337518;BC140716;CH471057;NM_016323 AAI40717;AAR00320;BAA88519;BAG52666;BAG63217;BAG63515;EAX06020;NP_057407;Q9UII4 Hs.26663 1668674;1730351;2123673 D4S442E;G33451;SHGC-32389 CEB1;CEBP1 E3 ISG15--protein ligase HERC5;HECT E3 ubiquitin ligase;HECT domain and RCC1-like domain-containing protein 5;OTTHUMP00000161566;OTTHUMP00000219488;cyclin-E binding protein 1;cyclin-E-binding protein 1;hect domain and RLD 5;probable E3 ubiquitin-protein ligase HERC5 APPROVED protein-coding ENSG00000138646 HGNC:24368 10502 608242 REVIEWED 1348683 HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008] 4 4 4 q22.1 86596361 86660787 + 89299838 89364249 + 88378686 88443097 + 1580863;6480464 12477932;14702039;15489334;15676274;16344560;18029348;18535780;19460752;21890473;21906983;22916037;22939624;8125298 55008 D6RCT4;H0Y9U0;Q8IVU3 ABBA01063548;ABBA01063549;ABBA01063550;AC083829;AF336798;AK000644;AK092403;AK097168;AK225506;AK295832;AL832670;AL833664;AMYH02009692;AMYH02009693;AMYH02009694;AY653201;AY653202;AY653203;BC027846;BC035775;BC042047;BX647121;CH471057;DA221524;DC344051;FJ695209;HG497065;NM_001165136;NM_017912;XM_005263083;XR_244670;XR_249622;XR_251609 AAH35775;AAH42047;AAQ14893;AAV66895;AAV66896;AAV66897;BAA91303;BAC03879;BAG53428;BAG58647;CAI46056;CAI46151;EAX06018;EAX06019;NP_001158608;NP_060382;Q8IVU3;XP_005263140 Hs.529317;Hs.733660 1686200;2122030;2157974;2161909;5022576 D1S1361;G33622;RH94252;SHGC-24792;SHGC-51201 FLJ20637 HECT domain and RCC1-like domain-containing protein 6;OTTHUMP00000219485;OTTHUMP00000219487;hect domain and RLD 6;potential ubiquitin ligase;probable E3 ubiquitin-protein ligase HERC6 APPROVED protein-coding ENSG00000138642;ENSG00000246375 HGNC:26072 13647 609249 VALIDATED 1322175 HERC4 HECT and RLD domain containing E3 ubiquitin protein ligase 4 HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008] 10 10 10 q21.3 62956525 63109715 - 69681656 69835103 - 67921899 68075348 - 737633;1580863;6480464;6907045 12477932 10997877;14702039;15164054;15489334;15676274;16385451;17967448;18535780;18781797;19460752;20379614;21139048;21890473;21906983;21963094;21987572;22496338;22505724;22863883;22939624;23000965;24250222;25027693 26091 D6RCL5;D6RFK9;H0Y6K7;Q5GLZ8 AB046813;ABBA01019553;ABBA01019554;ABBA01019555;AC024258;AK021844;AK026808;AK027835;AK292809;AL096715;AL133551;AL356741;AMYH02023245;AMYH02023246;AMYH02023247;AY221963;AY650032;AY650033;AY650034;BC015043;BC018114;BC039465;BC039600;BX101651;BX537563;CH471083;DB459623;NM_001278185;NM_001278186;NM_001278187;NM_015601;NM_022079;XM_006717751;XM_006717752;XM_006717753 AAH39600;AAO65480;AAV66578;AAV66579;AAV66580;ADZ15643;BAB13419;BAF85498;CAB46371;EAW54260;EAW54261;EAW54262;EAW54263;EAW54264;EAW54265;EAW54266;NP_001265114;NP_001265115;NP_001265116;NP_056416;NP_071362;Q5GLZ8;XP_006717814;XP_006717815;XP_006717816 Hs.51891 1672845;1674775;1687850;1688168;1688632;1703804;1772042;1777298;2131294;5015619;5015861;5015961;5016019;5037552;5117897;7185938 39012557;D10S16;D10S2389;D10S2409;D11S3114;D15S1477;D8S2279;GDB:631813;RH98667;RH98731;RH99160;SHGC-78939;STS-AA005171;STS-N32787;WI-20953 DKFZp564G092;KIAA1593 HECT domain and RCC1-like domain-containing protein 4;OTTHUMP00000019692;OTTHUMP00000019693;OTTHUMP00000217539;OTTHUMP00000217540;OTTHUMP00000217541;hect domain and RLD 4;probable E3 ubiquitin-protein ligase HERC4 APPROVED protein-coding ENSG00000148634 HGNC:24521 13646 609248 VALIDATED 733943 HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013] 16 16 16 q13 41466026 41478076 + 56965974 56977793 + 56932062 56943881 + 704470;1580863;6480464;6907045 10922362 10708769;11112790;11799129;12153396;12370023;12477932;14550564;15489334;16169070;16189514;16289116;16344560;16713569;16940180;17020760;17310145;17420289;18042451;18307982;18656546;19251110;19447887;19788048;19946888;20031564;20054003;20147634;20604806;20694148;20838585;20936779;21139048;21149444;21636303;21832049;21900206;21906983;21963094;21965653;23372434;23505323;23867461;24120520;24366945;24496447;7584026;8125298;8619474;9110174 9709 A4UAE9;H3BP08;H3BQM2;H3BRS4;H3BTA8;H3BTT7;H3BV54;Q15011;Q53FP9 AB034989;AB034990;ABBA01025255;ABBA01025256;AC012181;AF055001;AF055003;AF217990;AK223233;AK291565;AK292088;AK302167;AK304800;AMYH02032097;BC000086;BC008320;BC009739;BC032673;BG685245;BI520043;CD358537;CH471092;CR457116;D14695;DA581153;DQ837586;NM_001010989;NM_001272103;NM_014685;XM_006721352 AAC09355;AAC09357;AAG17233;AAH00086;AAH08320;AAH09739;AAH32673;ABI18163;ABM82793;ABW03443;BAA03521;BAB07891;BAB19010;BAD96953;BAF84254;BAF84777;BAG63534;BAG65550;CAG33397;EAW82892;EAW82893;EAW82894;NP_001010989;NP_001259032;NP_055500;Q15011;XP_006721415 Hs.146393 1653497;1663448;1685411 D16S3200;RH25263;SHGC-61031 HERP;KIAA0025;Mif1;SUP MMS-inducible;OTTHUMP00000164377;homocysteine-inducible endoplasmic reticulum stress-inducible ubiquitin-like domain member 1 protein;homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein;methyl methanesulfonate (MMF)-inducible fragment protein 1 APPROVED protein-coding ENSG00000051108 HGNC:13744 07456 608070 REVIEWED 1605640 HERPUD2 HERPUD family member 2 INVOLVED IN response to unfolded protein (inferred); spermatogenesis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; coumestrol 7 7 7 p14.2 35656891 35718541 - 35672269 35734772 - 35632659 35695162 - 6480464;8554872 12477932;14702039;15489334;16344560;17207965;19240061;19322201;23251661;23277564 64224 C9J4Q7;C9JDD7;C9JV48;Q9BSE4;S4R420 ABBA01056888;AC018647;AK025966;AK055708;AK315685;AMYH02015519;AMYH02015520;BC005091;BC020264;CH236951;CH471073;DA282706;DA778088;NM_022373;XM_006715765 AAH05091;AAH20264;ADQ31762;BAB15300;BAG38050;BAG51558;EAL23973;EAW94050;EAW94051;EAW94052;EAW94053;EAW94054;EAW94055;NP_071768;Q9BSE4;XP_006715828 Hs.643051 1691174;1697788;1712851;2132165;2181933;5015621 D11S3732;D7S1442;RH102418;RH120142;RH93918;STS-N32264 FLJ22313;FLJ31032 OTTHUMP00000158869;OTTHUMP00000207198;homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2;homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein protein-coding ENSG00000122557 HGNC:21915 07984 VALIDATED 1604433 HES3 hes family bHLH transcription factor 3 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN hindbrain morphogenesis (inferred); in utero embryonic development (inferred); midbrain development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cadmium atom; 2,2',5,5'-tetrachlorobiphenyl (ortholog); all-trans-retinoic acid (ortholog) 1 1 1 p36.31 5418756 5420142 + 6304252 6305638 + 6244192 6245578 + 6480464;8554872 15146197;15254753;16710414;17611704;18162467;23393614;24512568 390992 Q5TGS1 ABBA01035440;AL031847;AMYH02000169;CH471130;CN370501;CN413592;CX755241;NM_001024598 AAI56116;AAI56913;EAW71525;NP_001019769;Q5TGS1 Hs.532677 bHLHb43 OTTHUMP00000001390;class B basic helix-loop-helix protein 43;hairy and enhancer of split 3;transcription factor HES-3 APPROVED protein-coding ENSG00000173673 HGNC:26226 18618 609971 VALIDATED 1605434 HES1 hes family bHLH transcription factor 1 This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008] 3 3 3 q28-q29 192270388 192272854 + 193853931 193856401 + 194136142 194138612 + 6480464;6907045;5135539 17586813 10851137;11238932;11486045;11748221;11756408;12032823;12065598;12406868;12477932;12535671;12972610;14702039;14722248;15156153;15467735;15492808;15536134;15546612;15563463;16160079;16195230;16214363;16253247;16322473;16365048;16894395;17072841;17301032;17388915;17611704;17681138;17822320;18274550;18491256;18524252;18550849;18599525;18611861;18719287;18821565;18976975;19039095;19058789;19116245;19118200;19321451;19322201;19322650;19453261;19603167;19682396;19724860;19808903;19861684;19880519;19891787;19935883;20022559;20091184;20515776;20668890;20816878;20832754;21103979;21106062;21125297;21139048;21169257;21224467;21238798;21495212;21866461;21890473;21900206;21984123;21988832;22036964;22333607;22411914;22705236;22846929;22871495;23037857;23235341;23379739;23423517;23860410;23900217;24342613;24346283;24486648;24825862;24894488;7906273;8020957;8687460;9389649;9745030;9874198 3280 Q14469;Q9BS99 ABBA01058278;AC080129;AF264785;AI370424;AK000415;AK300482;AMYH02008445;BC005178;BC039152;CH471052;CR541843;DW424342;L19314;NM_005524 AAA65220;AAF73060;AAH05178;AAH39152;AAI56517;AAI72546;ABM82254;ABM84280;ABM87672;BAA91149;BAG62198;CAG46641;EAW78058;NP_005515;Q14469 Hs.250666 1679638;1769096;2190755;5017783 HES1;RH93226;STS-L19314;UniSTS:265714 FLJ20408;HES-1;HHL;HRY;bHLHb39 OTTHUMP00000209031;class B basic helix-loop-helix protein 39;hairy homolog;hairy-like protein;transcription factor HES-1 APPROVED protein-coding ENSG00000114315 HGNC:5192 00770 139605 REVIEWED 1354442 HES4 hes family bHLH transcription factor 4 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN cell differentiation (inferred); nervous system development (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; aflatoxin B1 1 1 1 p36.33 1654697 1655907 + 934342 936608 - 998962 1001224 - 1580863;6480464 11260262;12477932;15254753;15489334;16710414;17611704;20195357;20211142;21666788;22797925;8889548 57801 D6REB3;E9PB28;Q9HCC6 AB048791;ABBA01016008;AL645608;AMYH02000072;BC012351;BI757407;BM128269;BM713553;CH471183;DB485006;HI574164;NM_001142467;NM_021170;XM_005244771 AAH12351;ABM86416;BAB13510;CBX47571;EAW56296;NP_001135939;NP_066993;Q9HCC6;XP_005244828 Hs.154029 bHLHb42;hHES4 OTTHUMP00000038449;OTTHUMP00000221118;OTTHUMP00000221119;bHLH factor Hes4;class B basic helix-loop-helix protein 42;hairy and enhancer of split 4;transcription factor HES-4 APPROVED protein-coding ENSG00000188290 HGNC:24149 16273 608060 VALIDATED 1353774 HES5 hes family bHLH transcription factor 5 This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008] 1 1 1 p36.32 124288 125788 + 2460184 2461684 - 2528745 2530245 - 6480464;6907045;5135539 17586813 12477932;15156153;15254753;16214363;16365048;16710414;17072841;17093926;17388915;17611704;17849174;18354251;18524252;19682396;19855400;20091184;20972266;21238798;21495212;23637910;23776410 388585 Q5M8T3;Q5TA89 ABBA01016100;AL139246;AMYH02000124;BC087840;BX104111;CH471183;DQ272660;NM_001010926;XM_005244751;XM_006724945 AAH87840;ABB83829;EAW56096;NP_001010926;Q5TA89;XP_005244808;XP_006725008 Hs.57971 bHLHb38 OTTHUMP00000000867;class B basic helix-loop-helix protein 38;hairy and enhancer of split 5;transcription factor HES-5 APPROVED protein-coding ENSG00000197921 HGNC:19764 16240 607348 REVIEWED 736308 HES2 hes family bHLH transcription factor 2 ENCODES a protein that exhibits double-stranded DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN negative regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; aflatoxin B1 1 1 1 p36.31 5589803 5594490 - 6475292 6484724 - 6415232 6419919 - 1580863;6480464 12477932;14702039;15254753;15489334;16710414;17611704;8889548;9570950 54626 K7EJN2;K7EJQ0;Q9Y543 ABBA01035449;AK023754;AK091122;AL031848;AMYH02000175;BC012091;BC132698;BC136963;BC142687;BU729177;CH471130;NM_019089 AAH12091;AAI32699;AAI36964;AAI42688;BAG52286;EAW71533;EAW71534;NP_061962;Q9Y543 Hs.118727 5015619;5020946;5020948;5109281 D11S3114;D1S1425;G35510;L17971 bHLHb40 OTTHUMP00000000825;class B basic helix-loop-helix protein 40;hairy and enhancer of split 2;transcription factor HES-2 APPROVED protein-coding ENSG00000069812 HGNC:16005 13649 609970 VALIDATED 1323828 HES6 hes family bHLH transcription factor 6 This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008] 2 2 2 q37.3 232859462 232861235 - 239146908 239148681 - 238238267 238240124 - 1580863;6480464 10851137;11044617;11551980;12477932;12957362;12972610;14702039;15489334;15815621;15896295;17213182;17300753;17301032;17611704;17826772;18160400;19058789;19481584;19891787;21785461;21983900;22982728 55502 B8ZZP9;B9A070;C9JF41;H7C020;H7C1R4;Q96HZ4 AB035179;ABBA01042604;ABBA01042605;AC016757;AF260237;AK075040;AK293111;AMYH02006072;BC007939;BE796220;CH471063;CS061206;DB495731;DT217800;NM_001142853;NM_001282434;NM_018645;XM_005246095 AAH07939;AAK51634;AAY24337;BAA96082;BAC11368;BAF85800;CAI79369;EAW71149;EAW71150;EAW71151;EAW71152;NP_001136325;NP_001269363;NP_061115;Q96HZ4;XP_005246152 Hs.42949 1695330;1768239;1795970 HES6_1699;RH69252;SHGC-64752 C-HAIRY1;HES-6;bHLHb41;bHLHc23 OTTHUMP00000164479;OTTHUMP00000202609;OTTHUMP00000202610;OTTHUMP00000202611;OTTHUMP00000202612;OTTHUMP00000202613;class B basic helix-loop-helix protein 41;hairy and enhancer of split 6;transcription cofactor HES-6 APPROVED protein-coding ENSG00000144485 HGNC:18254 11021 610331 REVIEWED 1352150 HEXA hexosaminidase A (alpha polypeptide) This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009] 15 15 15 q24.1 49521918 49554688 - 72635778 72669474 - 72343437 72376179 - 1580863;6480464;6907045;7240710;8554872;8699517 1054503;10571007;11170098;11180612;12180151;12413610;12477932;1301189;1301190;1301938;1302612;1307230;1318511;1384323;14566483;14648242;14727180;1483696;1532289;1533633;15342556;15345116;15489334;15953731;16088929;16169070;16212960;16698036;16710745;16776631;17474147;18217416;1825014;1825792;1827945;1829032;1830584;1832817;1833974;1837283;18425478;18490185;19298806;19732345;19858779;19876898;19946888;1996872;20000738;20301397;21307379;2137287;2140574;2141777;2144098;21637923;21796138;21967858;22147196;2220821;22268729;22441121;22723944;2278539;22789865;22863883;23370522;2522660;2522679;2531748;2837213;2848800;2933746;2952641;2964446;2965147;2970528;2971395;2973311;3013851;3362213;3375249;3754980;6230359;7717398;7837766;7887427;7898712;7902672;7951261;808963;8125298;8328470;8445615;8490625;8581357;8634145;8652542;8663217;8673609;8757036;9090523;9150157;9217013;9222766;9272736;9338583;9375850;9401008;9603435 3073 H3BP20;H3BQ04;H3BRP6;H3BS10;H3BT62;H3BTD4;H3BU85;H3BVH8;P06865 ABBA01038728;ABBA01038729;AC009690;AK222502;AK296528;AK297678;AK301000;AK301138;AK307770;AK310154;AMYH02030752;AMYH02030753;AMYH02030754;BC001138;BC018927;BC021030;BC034424;BC084537;BP356349;BX537989;CH471082;CR627386;DC356933;KF456090;M13520;M16411;M16424;NG_009017;NM_000520;S61298;S62076;S76980 AAA51827;AAB00965;AAB33748;AAD13927;AAD13932;AAH01138;AAH18927;AAH21030;AAH84537;ABM83622;ABW03529;BAD96222;BAG59159;BAG60039;BAG62619;BAG62730;CAH10482;EAW77902;NP_000511;P06865 Hs.604479;Hs.709495 1676456;1725019;1740921;1740923;1740981;1741097;1741885;1741887;1769470;2129495;2138336;2145892 GDB:176311;GDB:176312;GDB:177101;GDB:177773;GDB:186545;GDB:186546;RH118806;RH44590;RH98547;SHGC-33452;SHGC-35689;WI-7120 MGC99608;TSD N-acetyl-beta-glucosaminidase subunit alpha;OTTHUMP00000164647;beta-N-acetylhexosaminidase subunit alpha;beta-hexosaminidase subunit alpha;hexosaminidase subunit A APPROVED protein-coding HGNC:4878 06040 272800;606869 REVIEWED 1314231 HES7 hes family bHLH transcription factor 7 This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 17 p13.1 8051536 8055038 - 8023908 8027410 - 8120590 8124092 - 1580863;6480464;7240710;5135539;8554872;8699517 17586813 11260262;17081983;17611704;18775957;19423540;19913121;20087400;20301533;20301771;20406964;20438785;20628086;21963094;22744456;23897666 84667 J3KSH6;Q9BYE0 AB049064;ABBA01054897;AC129492;AMYH02032919;BC039887;BI259590;BU620502;CA432402;CH471108;NG_015816;NM_001165967;NM_032580 AAI56908;BAB39525;EAW90092;NP_001159439;NP_115969;Q9BYE0 Hs.434828 2139449;5492326 Hes7;humtgkql SCDO4;bHLHb37;hHes7 bHLH factor Hes7;class B basic helix-loop-helix protein 37;hairy and enhancer of split 7;transcription factor HES-7 APPROVED protein-coding ENSG00000179111 HGNC:15977 09729 608059;613686 REVIEWED 1353119 HESX1 HESX homeobox 1 This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008] 3 3 3 p14.3 57197508 57199842 - 57231866 57261656 - 57197838 57227507 - 1580863;1601424;6480464;7240710;8554872;8699517 9620767 11136712;11283314;11731482;11748154;12063185;12424431;12477932;12519827;14557462;14561704;14646405;14714741;15489334;16424673;16940453;17148560;17587179;17931718;18728160;19561080;20181723;20211142;20301552;20534763;20694410;20949537;21270112;21325470;21761366;23199197;23455924;23465708;7876132;8696006;9373136;9751061 8820 C9J0A9;J3KR67;Q9UBX0 ABBA01024425;AC093928;AF059734;AI652412;AMYH02006863;BC069515;BC093979;BC112089;CH471055;NG_008242;NM_003865;U65437;XM_005265526;XM_006713379 AAB39561;AAC24523;AAH69515;AAH93979;AAI12090;ABZ92199;EAW65333;EAW65334;NP_003856;Q9UBX0;XP_005265583;XP_006713442 Hs.171980 2167062 RH48343 ANF;CPHD5;MGC138294;RPX;hAnf OTTHUMP00000213130;OTTHUMP00000213131;Rathke pouch homeobox;homeo box (expressed in es cells) 1;homeobox expressed in ES cells 1;homeobox protein ANF;homeobox, ES cell expressed 1 APPROVED protein-coding ENSG00000163666 HGNC:4877 03482 182230;601802 REVIEWED 1316898 HEXB hexosaminidase B (beta polypeptide) Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] 5 5 5 q13 69875759 69911869 + 73935547 74017113 + 74685144 74721288 + 1599422;1599424;1580863;6480464;6907045;7240710;8699517;8554872 1720305;2147027 1054503;10571007;10591618;10982028;11447134;12413610;12477932;12662933;12706724;12754519;1386607;14702039;1487253;1531140;15459180;15485660;15489334;15953731;16352452;16710745;17251047;18180457;18204279;18217416;1825792;18552385;18588514;18758829;18930675;19278737;19615986;1967020;19913121;19946888;20628086;20800603;21307379;21321400;2139028;2147427;21637923;2170400;21890473;21900206;21906983;21978926;22191674;22268729;22789865;22848519;22863301;22863883;23046579;23349634;23370522;23886397;23906468;2522450;2525487;2579389;2921040;2948136;2964638;2965147;2966076;2971039;2971395;2977375;3013851;6230359;6959123;7177110;7299841;7557963;7626071;7633435;8045559;8106452;8357844;8634145;8663217;8673609;8950198;9401004;9694901;9856491;9888387 3074 D6REQ8;H0Y9B6;H0Y9M3;H0YA83;P07686;Q5URX0 ABBA01061933;ABBA01061934;AC026405;AC093214;AF378118;AK122992;AK130002;AK130375;AMYH02011575;AY643499;BC017378;BE907813;BT009919;CH471084;D10520;FJ224336;M13519;M19735;M23282;M23294;M34906;NG_009770;NM_000521;NM_001292004 AAA51828;AAA51829;AAA52645;AAA68620;AAH17378;AAM46114;AAP88921;AAV48875;ACI46028;ADZ15570;EAW95741;EAW95742;NP_000512;NP_001278933;P07686 Hs.69293 1672097;1678375;1735492;2121650;5016578;5108181 D5S1611E;GDB:615686;RH92711;SGC32640;SHGC-32009;STS-R97079 ENC-1AS;HCC-7;HEL-248 N-acetyl-beta-glucosaminidase subunit beta;OTTHUMP00000128232;OTTHUMP00000222053;beta-N-acetylhexosaminidase subunit beta;beta-hexosaminidase subunit beta;cervical cancer proto-oncogene 7 protein;epididymis luminal protein 248;hexosaminidase subunit B APPROVED protein-coding ENSG00000049860 HGNC:4879 06043 268800;606873 REVIEWED 5684570 HEXDC-IT1 HEXDC intronic transcript 1 (non-protein coding) 17 q25.3 80383374 80385186 + 100505970 Q6ZP64 AC132938;AK129961;XR_158908;XR_159299;XR_172231 BAC85260 Hs.689403 5015861;5022463;5022578 D10S16;D1S1423;D3S1673 ncrna HGNC:43650 1602417 HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing ENCODES a protein that exhibits beta-N-acetylhexosaminidase activity (inferred); hydrolase activity, hydrolyzing O-glycosyl compounds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; atrazine; copper(2+) sulfate 17 17 17 q25.3 76968356 76992266 + 80376240 80400516 + 82418376 82442640 + 6480464;8554872 12477932;16169070;19040401;21265931;21672370;22515481;23099419 284004 J3KRH3;J3KS46;J3KT84;J3KTD0;J3QKL0;J3QKU6;J3QLN1;J3QS29;K7EIV9;K7EK54;Q8WVB3 ABBA01019679;AC132938;AK074405;AK295197;AK297272;AK316085;AMYH02034157;BC018205;BC035561;CH471099;DN999062;FM204887;NM_173620;XM_005256346;XM_005256347;XM_005256348;XM_006722280;XR_243521;XR_430029;XR_430030;XR_430031 AAH18205;AAH35561;ADZ16020;BAB85072;BAH12009;BAH12536;BAH14456;CAR57925;EAW89771;EAW89772;EAW89773;EAW89774;EAW89775;NP_775891;Q8WVB3;XP_005256403;XP_005256404;XP_005256405;XP_006722343 Hs.744207 1696972;2179889 G06994;RH101958 FLJ23825 N-acetyl-beta-galactosaminidase;beta-N-acetylhexosaminidase;beta-hexosaminidase D;hexosaminidase D;hexosaminidase domain-containing protein protein-coding ENSG00000169660 HGNC:26307 08677 VALIDATED 1601726 HEXIM2 hexamethylene bis-acetamide inducible 2 ENCODES a protein that exhibits cyclin-dependent protein serine/threonine kinase inhibitor activity; snRNA binding; INVOLVED IN negative regulation of cyclin-dependent protein serine/threonine kinase activity; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-templated; FOUND IN cytoplasm (ortholog); nucleus (ortholog); INTERACTS WITH copper(2+) sulfate; cyclosporin A; formaldehyde 17 17 17 q21.31 39947916 39957031 + 43237502 43247406 + 45159335 45170039 + 6480464 12477932;12832472;14702039;15302935;15334068;15713661;15713662;15965233;15992410;15994294;17207965;17643375;18029348;18281698;18655042;19430483;19883659;21044950;22355797;22377309;23455922;23518577;24250222 124790 K7EIM4;K7EJA3;K7ELS4;K7ERG7;K7ESM2;Q96MH2 ABBA01028324;ABBA01028325;AC138150;AK056946;AMYH02033510;AMYH02033511;AY598322;BC003531;BC012474;BC025970;CH471178;NM_144608;XM_005257037;XM_005257038;XM_005257039;XM_005257040;XM_005257041;XM_006721687;XM_006721688;XM_006721689 AAH03531;AAH12474;AAH25970;AAT06733;ADQ32160;BAB71319;EAW51541;EAW51542;NP_653209;Q96MH2;XP_005257094;XP_005257095;XP_005257096;XP_005257097;XP_005257098;XP_006721750;XP_006721751;XP_006721752 Hs.56382 1775480;2159236 RH78214;SHGC-30043 FLJ32384;L3 MAQ1 paralog;hexamethylene bis-acetamide-inducible protein 2;hexamethylene-bis-acetamide-inducible transcript 2;hexamthylene bis-acetamide inducible 2 APPROVED protein-coding ENSG00000168517 HGNC:28591 08129 615695 PROVISIONAL 735762 HEY1 hes-related family bHLH transcription factor with YRPW motif 1 This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 8 8 8 q21 76680512 76684366 - 80676245 80680098 - 79764010 79767863 - 1334460;1580863;6480464;5135539;8554872 12548545;17586813 10403790;10415358;10692439;10860664;10964718;11095750;11279181;11486044;11486045;11585921;11866539;12453432;12477932;14702039;15231748;15314183;15342556;15485867;15489334;15680351;15684393;15749835;16043483;16165016;16344560;17028039;17259303;17496152;17611704;18239137;18363832;18986983;19322201;19369342;19453261;19802006;19857617;19917614;21290414;22034177;22036964;23226563;23252872;23379739;23900217;24124145;24366871;8125298 23462 B4DEI9;E5RHK6;Q9Y5J3 ABBA01004075;AC016240;AF151522;AF176422;AF232239;AF254637;AF311883;AJ272214;AJ277506;AK074641;AK092437;AK226041;AK293646;AK313271;AMYH02018285;BC001873;BP283540;BT020065;CH471068;DA561783;NM_001040708;NM_001282851;NM_012258;R61374 AAD38967;AAD51749;AAF37297;AAG31156;AAH01873;AAL06278;AAV38868;ADZ16016;BAC03890;BAG36080;BAG51980;BAG57100;CAB75715;CAB90212;EAW87066;NP_001035798;NP_001269780;NP_036390;Q9Y5J3 Hs.234434 1797680;2125292 HEY1_2154;RH12790 BHLHb31;CHF2;HERP2;HESR1;HRT-1;MGC1274;OAF1;hHRT1 HES-related repressor protein 1;HES-related repressor protein 2;OTTHUMP00000227098;OTTHUMP00000227101;OTTHUMP00000227683;basic helix-loop-helix protein OAF1;cardiovascular helix-loop-helix factor 2;class B basic helix-loop-helix protein 31;hairy and enhancer of split-related protein 1;hairy-related transcription factor 1;hairy/enhancer-of-split related with YRPW motif 1;hairy/enhancer-of-split related with YRPW motif protein 1 APPROVED protein-coding ENSG00000164683 HGNC:4880 04260 602953 REVIEWED 1606576 HEXIM1 hexamethylene bis-acetamide inducible 1 Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. This gene has no introns. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 39934331 39939117 + 43224684 43229468 + 45147317 45152101 + 6480464 10737800;12119119;12477932;12581153;12832472;14580347;14702039;15109492;15169877;15201869;15713661;15713662;15855166;15940264;15941832;15965233;15992410;15994294;16109377;16222702;16362050;16382153;16980611;17314519;17341462;17531811;17576689;17643375;17709395;17724342;17937499;18029348;18039861;18281698;18371977;18407829;18483487;18655042;18757415;18773076;18801933;19275730;19387490;19430483;19617712;19716452;19883659;20029029;20201073;20210365;20453883;20562857;20683478;20808803;20976203;21030982;21044950;21139048;21360054;21906983;22033481;22095517;22100159;22342181;22377309;22422068;22483617;22863883;22939629;22948151;23000965;23300697;23455922;23518577;23678366;23803414;24015760;24250222;24367103;24515107;24816145 10614 O94992 AB021179;ABBA01028325;AC142472;AI092623;AK023624;AK313557;AL521530;AL562001;AMYH02033510;AW881781;BC006460;BQ777682;BX111838;CA448958;CA946973;CV810471;DB539383;NM_006460 AAH06460;ABM84198;ABM87157;ABM87602;BAA36166;BAG36332;BAG51211;NP_006451;O94992 Hs.586945;Hs.741758;Hs.745252 1687790;1774629 BCD3293;RH99112 CLP1;EDG1;FLJ13562;HIS1;MAQ1 HMBA-inducible;cardiac lineage protein 1;estrogen down-regulated gene 1 protein;hexamethylene bis-acetamide-inducible protein 1;hexamethylene bisacetamide-inducible protein;hexamethylene-bis-acetamide-inducible transcript 1;hexamthylene bis-acetamide inducible 1;menage a quatre 1;menage a quatre protein 1 APPROVED protein-coding HGNC:24953 09544 607328 REVIEWED 2305638 HEXA-AS1 HEXA antisense RNA 1 15 15 15 q23 49554622 49557297 + 72668454 72671129 + 72376113 72378788 + 12477932;14702039;15489334 80072 Q9H8Q6 ABBA01038728;AC009690;AK023377;AMYH02030754;BC068211;CH471082;NG_009017;NR_027262 BAB14550;EAW77903;Q9H8Q6 Hs.591113 1741885 GDB:186545 C15orf34;FLJ13315 APPROVED ncrna ENSG00000260339 HGNC:25810 VALIDATED 1354369 HEY2 hes-related family bHLH transcription factor with YRPW motif 2 This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 q21 126813087 126824769 + 126066211 126082415 + 125749586 125761269 + 1580863;70528;6480464;5135539 11741889;17586813 10415358;10692439;10710309;10860664;10924525;11095750;11486044;11486045;12372254;12477932;12535671;12548545;14574404;15389319;15485867;15489334;15643620;15680351;15821257;16043483;16151017;16165016;16189514;16293227;16329098;17217622;17611704;18239137;18266235;21290414;21362320;22310065;23275563;23744056;23872634;24108462;24366871 23493 Q5TF93;Q9UBP5 AB044755;ABBA01025947;AF173901;AF232238;AF237949;AF311884;AJ249545;AK289943;AK303890;AL078594;AMYH02014435;BC007707;BI549391;BT020067;BT020068;CH471051;NM_012259;XM_005266878;XM_006715428 AAF20173;AAF37296;AAF44781;AAG31157;AAH07707;AAV38870;AAV38871;BAA96781;BAF82632;BAG64825;CAB56839;EAW48135;NP_036391;Q9UBP5;XP_005266935;XP_006715491 Hs.144287 1695758;1781190;1797682 HEY2_2351;SHGC-78750;stHey2seq CHF1;GRL;HERP1;HESR-2;HESR2;HRT-2;HRT2;MGC10720;bHLHb32;hCHF1;hHRT2 GRIDLOCK;HES-related repressor protein 1;HES-related repressor protein 2;OTTHUMP00000017138;OTTHUMP00000017139;cardiovascular basic helix-loop-helix factor 1;cardiovascular helix-loop-helix factor 1;class B basic helix-loop-helix protein 32;hairy and enhancer of split-related protein 2;hairy-related transcription factor 2;hairy/enhancer-of-split related with YRPW motif 2;hairy/enhancer-of-split related with YRPW motif protein 2;protein gridlock homolog APPROVED protein-coding ENSG00000135547 HGNC:4881 05243 604674 REVIEWED 1312805 HEYL hes-related family bHLH transcription factor with YRPW motif-like This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 38370855 38387100 - 40089103 40105348 - 39623431 39639676 - 1580863;6480464;5135539;8554872 17586813 10415358;10860664;10924525;10964718;11095750;12477932;12548545;15231748;15485867;16165016;16189514;17611704;20211142;21290414;21454491;21832049;21906983;23222517;23275563;8889548 26508 Q9NQ87 ABBA01023206;AF311885;AJ272215;AK300463;AL035404;AL541019;AMYH02000837;BC006087;BM682076;CH471059;NM_014571;XM_005270745 AAG31158;AAH06087;ABZ92400;BAG62182;CAB75716;EAX07260;NP_055386;Q9NQ87;XP_005270802 Hs.472566 1678193;1760825;2139034;5492309 D1S3560;Heyl;RH92719;SHGC-144470 HESR3;HEY3;HRT-3;HRT3;MGC12623;bHLHb33;hHRT3 HEY-like protein;OTTHUMP00000000536;class B basic helix-loop-helix protein 33;hHeyL;hairy-related transcription factor 3;hairy/enhancer-of-split related with YRPW motif 3;hairy/enhancer-of-split related with YRPW motif-like protein APPROVED protein-coding ENSG00000163909 HGNC:4882 16419 609034 REVIEWED 1606438 HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014] 1 1 1 p22.2 89974186 90118312 - 91726323 91870426 - 91260766 91404869 - 6480464;8699517;7240710;8554872 12477932;14702039;17286053;20379614;20800603;24597873 164045 A2PYH4;C9JA44;C9JQ07;C9JQP7;H0Y3X7 AB044787;AB044788;AB058636;AB058637;AB074274;AB204867;ABBA01045565;ABBA01045566;AC098691;AK094079;AK096330;AK294754;AK302582;AMYH02001461;AMYH02001462;BC062793;BC130525;BC132823;BC144172;BC144198;BX323048;BX649037;CH471097;DT932601;NG_034120;NM_001017975;XM_006710395 A2PYH4;AAI44173;AAI44199;BAC04281;BAF45466;BAG53262;BAG57893;BAG63837;BAI63262;BAI63263;BAI63264;BAI63265;EAW73116;NP_001017975;XP_006710458 Hs.454818 1644016;1684568;1685966;1749395;1781444;2151946;2154453;2166031 D1S3426;RH11787;RH17908;RH66123;RH92497;SGC35814;SHGC-111139;SHGC-112033 FLJ36760;FLJ39011;MER3;MGC163397;POF9;RP11-539G11.1;SEC63D1;Si-11;Si-11-6 OTTHUMP00000196537;SEC63 domain containing 1;SEC63 domain-containing protein 1;helicase;helicase-like protein HFM1;probable ATP-dependent DNA helicase HFM1 protein-coding ENSG00000162669 HGNC:20193 13423;18568 615684;615724 REVIEWED 1320952 HFE2 hemochromatosis type 2 (juvenile) The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Jul 2008] 1 1 1 q21.1 119616475 119620829 + 145413191 145417545 + 146017468 146021822 - 1599478;6480464;6484113;8554872;8699517 14647275 10205270;12477932;14702039;14982867;14982873;15138164;15194541;15254010;15315789;15461631;15489334;15590393;15610558;15611318;15685557;15710580;15998830;16075058;16103117;16103673;16344560;16932966;17207965;17264300;17339196;17768121;17847004;17869549;17938254;18287331;18326817;18335997;18421430;18445598;18725184;18762941;18827264;19029439;19214511;19252486;19287179;19357398;19564337;19787796;19847924;20301349;20530805;20549515;20587610;20593054;20704562;20713458;20937842;21039223;21088809;21863061;22076499;22365732;22398782;22728873;22893705;23375327;8125298;9465039 148738 A8K466;F8W6J7;Q6ZVN8 AA479148;ABBA01005748;AC243547;AK092682;AK092692;AK096905;AK124273;AK223575;AK290831;AK292742;AK315852;AL138842;AL355505;AY372521;BC017926;BC085604;CH471244;CS573001;CS607654;DB035674;DQ309445;GN062681;GN081991;JC739554;NG_011568;NM_145277;NM_202004;NM_213652;NM_213653;XM_005272932 AAH17926;AAH85604;AAR22390;ABC40718;ADQ32250;BAC03944;BAC03947;BAC04890;BAC85823;BAF83520;BAF85431;BAF98743;CAI22091;CAI22092;CAI22349;CAI22350;CAN86494;CAO00462;CAX62674;CAX86829;CEF39436;EAW71407;EAW71408;EAW71409;NP_660320;NP_973733;NP_998817;NP_998818;Q6ZVN8;XP_005272989 Hs.632436 1665961;1671416;1671418;1848882;2149262 A005K39;Bdab5d06;G20291;RH17510;SHGC-33871 HFE2A;HJV;JH;MGC23953;RGMC OTTHUMP00000015582;OTTHUMP00000015583;OTTHUMP00000218197;OTTHUMP00000218198;OTTHUMP00000218199;RGM domain family member C;haemojuvelin;hemochromatosis type 2 protein;hemojuvelin;repulsive guidance molecule c APPROVED protein-coding ENSG00000168509 HGNC:4887 10521 608374 REVIEWED 1318713 HGD homogentisate 1,2-dioxygenase This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010] 3 3 3 q13.33 118756410 118810810 - 120347015 120401418 - 120628168 120682571 - 1599472;1580863;6480464;6907045;7240710;8554872;8699517 8782815 10205262;10340975;10482952;10594001;10876237;11181995;12477932;12872836;14702039;15489334;16085442;16344560;16787403;17207965;18945288;19056867;19862842;20201926;20301627;20462779;20467438;21044950;21437689;21720873;21988832;22105303;23353776;8188241;8252048;8581831;9069115;9154114;9244427;9529363;9630082;9674916 3081 C9JTX9;H7C4R8;H7C576;H7C5G7;Q93099 AA861603;AADB02004670;ABBA01016492;ABBA01016493;AC009289;AC126182;AC133474;AF000573;AF045167;AK124291;AK290782;AK313563;AMYH02007519;AMYH02007520;BC020792;BC071757;CH471052;DA872983;DB231845;NG_011957;NM_000187;U63008;XM_005247412;XM_005247413;XM_005247414;Z75048 AAB16836;AAC02698;AAC51650;AAH20792;AAH71757;ACE86524;ACE87203;ADQ32072;BAF83471;BAG36337;BAG54026;CAA99340;EAW79522;EAW79523;EAW79524;NP_000178;Q93099;XP_005247469;XP_005247470;XP_005247471 Hs.368254 1674406;1686124;2113240;2113242;2175825;2176192 D3S4496;D3S4497;RH74992;SHGC-17243;SHGC-33308;WI-11587 AKU;FLJ94126;HGO OTTHUMP00000215350;homogentisate oxidase;homogentisate oxygenase;homogentisic acid oxidase;homogentisicase APPROVED protein-coding ENSG00000113924 HGNC:4892 06315 203500;607474 REVIEWED 1345296 HFE hemochromatosis The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27316734 27326343 + 26087422 26096438 + 26087281 26096117 + 1582673;1358657;1582684;1582695;1582697;1582671;1582685;1582687;1582672;1601449;1601452;1601460;1580863;6480464;7240710;7207252;7207253;8694348;8694350;8694351;8694357;8694347;8554872;8694379;8699517;8694349;8694371;8694397;2317357;8694411;8694420;8694367;8694362;8694372;8694381;8694354 10194428;10383894;10491370;10705106;11040018;11134514;11473047;11545759;12105842;12190960;12746412;12850485;14973098;15060098;15175819;15347835;15834437;15894659;16047841;16102632;16216474;16678024;16886838;17137171;18599584;19001803;19715555;20019189;20097100;8696333;9453491 10079302;10085150;10094552;10381492;10401000;10431233;10575540;10612845;10638746;10791995;11001625;11018711;11027676;11051367;11057879;11069625;11079015;11096344;11108765;11114141;11151887;11159767;11168438;11199371;11242801;11257277;11260010;11325323;11332643;11358357;11358395;11358905;11380589;11386022;11394651;11399207;11423500;11436126;11445256;11446670;11454185;11469076;11474212;11478530;11479183;11488107;11495086;11499833;11500061;11500066;11529872;11564085;11579943;11673657;11680538;11686223;11700156;11722599;11730630;11738096;11763282;11774187;11781701;11783942;11788568;11800564;11804665;11809727;11812557;11836162;11840200;11855561;11857056;11869934;11874997;11875012;11886425;11886966;11887210;11901060;11903354;11903355;11904676;11929045;11938026;11939483;11940510;11943417;11953685;11960574;11960577;12002748;12003382;12010659;12036461;12045778;12059121;12064915;12077102;12085358;12098643;12117686;12140659;12145797;12148086;12180078;12190182;12198660;12207823;12241015;12241803;12361551;12364722;12377814;12380399;12384978;12394323;12406023;12427496;12429850;12436244;12445172;12445415;12445428;12446481;12464008;12477932;12482402;12505233;12508400;12508966;12512743;12514663;12529348;12537659;12542499;12542741;12547216;12557137;12568299;12584430;12586300;12589228;12591066;12601293;12614226;12622622;12624489;12635863;12651261;12656741;12662406;12667138;12667993;12673077;12673276;12681966;12691865;12699243;12707220;12707938;12712916;12714262;12714263;12714823;12737949;12745279;12763366;12770794;12779071;12783844;12791037;12792703;12846904;12850493;12851225;12865278;12865759;12870733;12874382;12885340;12902032;12907432;12915468;12923017;12940442;12942784;12948285;12952143;12961032;12972032;12972035;14499790;14503989;14557859;14618419;14633868;14635204;14636644;14641999;14642607;14648375;14667749;14670915;14671616;14671617;14673107;14675248;14703688;14703689;14706682;14729817;14740507;14742317;14752836;14759258;14765621;14966054;14972004;14996353;15013567;15017658;15017669;15018631;15025725;15042317;15044462;15056661;15061375;15070663;15075083;15099342;15101996;15121519;15136693;15141324;15151632;1517564;15182337;15222129;15223008;15259508;15266614;15273174;15280838;15287851;15293136;15302000;15304010;15304122;15319650;15338274;15352740;15363617;15377292;15388046;15389541;15447900;15467009;15477198;15483651;15489334;15498100;15503019;15517265;15528154;15531451;15538648;15546588;15566515;15570296;15581829;15607698;15610558;15637751;15642540;15643457;15654232;15668490;15668853;15673318;15684872;15698609;15710569;15727249;15740492;15763983;15775751;15777346;15780041;15785438;15789881;15802547;15815212;15817857;15840699;15858186;15863206;15863667;15880641;15885363;15894495;15914210;15929796;15929798;15941661;15941956;15955425;15956653;15965644;15990686;15991291;15995871;16003728;16011012;16012706;16039334;16043695;16055358;16103673;16105133;16113534;16113552;16123136;16138214;16140024;16157826;16174459;16174659;16178952;16186539;16210711;16222171;16225403;16273299;16285477;16306377;16314188;16315134;16324464;16337066;16364490;16393683;16399493;16414021;16433696;16451136;16454835;16468045;16503999;16520984;16537242;16583477;16584391;16615007;16615226;16638105;16649670;16672055;16728543;16755236;16802007;16802538;16806233;16824219;16838333;16841247;16847405;16849282;16878186;16893896;16935420;16936157;16950433;16964543;16968463;16979952;16990695;17001480;17003003;17006922;17011669;17013646;17042772;17047092;17056630;17058523;17061732;17062032;17065702;17067586;17079357;17101320;17107905;17108759;17116317;17135308;17145987;17160239;17160266;17194693;17210810;17212677;17228846;17235517;17240320;17279416;17284543;17297430;17298224;17299255;17303462;17308297;17313717;17362299;17389307;17401564;17410459;17420932;17474269;17525682;17543888;17565641;17573946;17585191;17589946;17597476;17598005;17626021;17628213;17637512;17650303;17654685;17661761;17661915;17680648;17687449;17710673;17718867;17722428;17724144;17729389;17767550;17828789;17847004;17878720;17895769;17916170;17924859;17949288;17956864;17959863;17973580;17976429;18005180;18025780;18036208;18042412;18054440;18061182;18061976;18073584;18079565;18164971;18182079;18194242;18199861;18201677;18263976;18273820;18276042;18284459;18289891;18300942;18317757;18325820;18327584;18353247;18363869;18395717;18403938;18419350;18429050;18452683;18460494;18462792;18470614;18500222;18521456;18524764;18525129;18542962;18565178;18565609;18566337;18593631;18633618;18657084;18665827;18675463;18676680;18683048;18689356;18705322;18762941;18795173;18809758;18810584;18820912;18842428;18846434;18848943;18987350;19002551;19008010;19018338;19030706;19059216;19074885;19084217;19115475;19159930;19165391;19170196;19214511;19222337;19228389;19237423;19254567;19258483;19264516;19267193;19271219;19291797;19359997;19375516;19380292;19384175;19420105;19422651;19429178;19433916;19481774;19487139;19500086;19515364;19541813;19554541;19602897;19625176;19640812;19656448;19673882;19681031;19692168;19706067;19711434;19715939;19731820;19732172;19734422;19747287;19759876;19775775;19787796;19799358;19806355;19819738;19820015;19820697;19820698;19820699;19822954;19852572;19853236;19862010;19874572;19876870;19879168;19884647;19893773;19913121;19931264;19948245;19958990;19960042;20007136;20008199;20027482;20029940;20031541;20031565;20060900;20073670;20084012;20099304;20101754;20107990;20117027;20139978;20145272;20160468;20164577;20178892;20190684;20193033;20194081;20196837;20199637;20208481;20216079;20218273;20301340;20301613;20337854;20345568;20392616;20400082;20424537;20437058;20447705;20464957;20478760;20485444;20503453;20555268;20560808;20563578;20575041;20583211;20586792;20587610;20594259;20607553;20618438;20628086;20634490;20640879;20642366;20642794;20659343;20669231;20670400;20673159;20675164;20686565;20714725;20722701;20734416;20739079;20800508;20805500;20813792;20814896;20817350;20843714;20858683;20927387;20950210;20954257;20957336;20974500;21039223;21067572;21082925;21145803;21149283;21165552;21190189;21208937;21228038;21243428;21245296;21332426;21349849;21354231;21384276;21407826;21411349;21412944;21426887;21483845;21553046;21569394;21625954;21643746;21665994;21669570;21674831;21696736;21701160;21701828;21736562;21785125;21796974;21822737;21909110;21909115;21925577;21932715;21943158;21947086;22012716;22048270;22098610;22098612;22118647;22122796;22145371;22183642;22183944;22196777;22209421;22232660;22297603;22354660;22362121;22425014;22481680;22504868;22530027;22565179;22611049;22624560;22720276;22728873;22842326;22890139;22908207;22942096;23018356;23063643;2307464;23154866;23178241;23188073;23222517;23263863;23281741;23289212;23340149;23389292;23413885;23446634;23468552;23512844;23553028;23657305;23678366;23681799;23792061;23793422;23794343;23794717;23813494;23862168;23953397;23968943;24068123;24081379;24097068;24184271;24331117;24401005;24643698;3460331;678784;8896550;896549;9024376;9106528;9122230;9138148;9149941;9162021;9211748;9321765;9326341;9341868;9356458;9371823;9425935;9439654;9462220;9465039;9546397;9548560;9585606;9620340;9869618 3077 F8W7W8;H7C4K4;Q30201;Q6B0J5 ABBA01066552;AF079407;AF079408;AF079409;AF109385;AF115264;AF115265;AF144240;AF144242;AF147392;AF149804;AF184234;AF204869;AF331065;AF525359;AF525499;AJ249335;AJ249336;AJ249337;AJ249338;AJ250635;AJ298839;AJ298840;AJ404378;AK293393;AK300933;AK316502;AMYH02013347;AY205604;BC074721;BC117201;BC117203;BC143887;CH471087;CS187189;EU523119;JN375752;JN375753;JN375754;JN375755;JN375756;JN375757;JN375758;JN375759;NG_008720;NM_000410;NM_001300749;NM_139003;NM_139004;NM_139006;NM_139007;NM_139008;NM_139009;NM_139010;NM_139011;U60319;U80914;U91328;XM_006715075;XR_241893;Y09801;Z92910 AAB82083;AAC51823;AAC62646;AAC62647;AAC62648;AAD00449;AAD52104;AAF01222;AAG29342;AAG29571;AAG29572;AAG29575;AAG29577;AAH74721;AAI17202;AAI17204;AAK16502;AAM82608;AAM91950;AAO47091;ACB21042;ADR82951;AEO50365;AEO50366;AEO50367;AEO50368;AEO50369;AEO50370;AEO50371;AEO50372;BAG56902;BAG62562;BAH14873;CAA70934;CAB07442;CAC67792;CAC67793;CAC67794;CAC67795;CAC80805;CAJ42862;EAW55516;EAW55517;EAW55518;EAW55519;EAW55520;EAW55521;EAW55522;EAW55523;EAW55524;EAW55525;EAW55526;EAW55527;NP_000401;NP_001287678;NP_620572;NP_620573;NP_620575;NP_620576;NP_620577;NP_620578;NP_620579;NP_620580;Q30201;XP_006715138 Hs.233325 1793042;1793100;1793102;1793980;1850535;2125240;2133434;2142169;2150961;2165723;2217418;5022578;5022651 A004R25;D11S2921;D1S1423;D6S2377;HFE_3382;PMC19311P1;PMC196491P2;PMC196491P3;PMC310725P1;RH46637;RH46796;STS-U60319;WI-17546 HFE1;HH;HLA-H;IMAGE:40125754;MGC103790;MGC:150812;MVCD7;TFQTL2;dJ221C16.10.1 MHC class I-like protein HFE;OTTHUMP00000215786;OTTHUMP00000215787;OTTHUMP00000215788;OTTHUMP00000215789;OTTHUMP00000215790;OTTHUMP00000215791;OTTHUMP00000215792;OTTHUMP00000215793;OTTHUMP00000215816;OTTHUMP00000215817;OTTHUMP00000215818;hereditary hemochromatosis protein;hereditary hemochromatosis protein HLA-H;high Fe 2301165 PRSTS379_H APPROVED protein-coding ENSG00000010704 HGNC:4886 01993 104300;176100;176200;235200;612635;613609;614193 REVIEWED 1602718 HGH1 HGH1 homolog (S. cerevisiae) INTERACTS WITH cadmium atom; cobalt dichloride; copper atom 8 8 8 q24.3 141536483 141538889 + 145192672 145195620 + 144137769 144140717 + 6480464 11042152;12477932;14702039;15489334;16169070;16421571;18669648;19413330;20068231;20562859;21139048;21269460;22190034;22797925;22814378;22863883;24816145;25036637 51236 E9PIX0;Q96BK8;Q9BTY7 ABBA01005223;AC104592;AC110280;AF151022;AK098226;AMYH02018956;AMYH02018957;AMYH02018958;AMYH02018959;AW002157;BC003035;BC009915;BC015471;CH471162;NM_016458 AAF36108;AAH03035;AAH09915;AAH15471;BAG53598;EAW82148;NP_057542;Q9BTY7 Hs.300224 2127710;2151414 RH11627;SGC31287 BRP16;BRP16L;C8orf30A;C8orf30B;FAM203A;FAM203B;FLJ40907 OTTHUMP00000229053;brain protein 16;brain protein 16-like;family with sequence similarity 203, member A;family with sequence similarity 203, member B APPROVED protein-coding ENSG00000235173 HGNC:24161 17423 VALIDATED 1350664 HGFAC HGF activator This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 4 4 4 p16 3354522 3362009 + 3443702 3451214 + 3441975 3449491 + 1580863;6480464;8554872 11013244;11201608;12477932;1368819;14718574;15172968;15340161;15713485;16189274;16335952;18221492;1838014;18422749;18691255;19456860;20424473;23969696;7683665;8226803;8631970;9045658;9346890;9874200 3083 D6RAR4;Q04756 ABBA01029469;AK314099;AL590235;AMYH02008632;BC112190;BC112192;CH471131;D14012;D50030;NM_001297439;NM_001528;XM_005247966;Z69923 AAI12191;AAI12193;BAA03113;BAA74450;EAW82464;NP_001284368;NP_001519;Q04756;XP_005248023 Hs.104 1683407;2191261;5113848 MARC_16871-16872:1015445619:1;RH66538;SHGC-67315 HGFA;MGC138395;MGC138397 OTTHUMP00000115316;OTTHUMP00000217082;hepatocyte growth factor activator APPROVED protein-coding ENSG00000109758 HGNC:4894 05184 604552 REVIEWED 1350126 HGPPS horizontal gaze palsy with progressive scoliosis ASSOCIATED WITH Gaze Palsy, Familial Horizontal, with Progressive Scoliosis (inferred) 7240710 12177379 338404 HGNC:20666 607313 70837 HGF hepatocyte growth factor (hepapoietin A; scatter factor) Hepatocyte growth factor regulates cell growth, cell motility, and morphogenesis by activating a tyrosine kinase signaling cascade after binding to the proto-oncogenic c-Met receptor. Hepatocyte growth factor is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. Its ability to stimulate mitogenesis, cell motility, and matrix invasion gives it a central role in angiogenesis, tumorogenesis, and tissue regeneration. It is secreted as a single inactive polypeptide and is cleaved by serine proteases into a 69-kDa alpha-chain and 34-kDa beta-chain. A disulfide bond between the alpha and beta chains produces the active, heterodimeric molecule. The protein belongs to the plasminogen subfamily of S1 peptidases but has no detectable protease activity. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 7 7 7 q21.1 76032788 76100524 - 81331444 81399452 - 81700166 81770438 - 1580863;704404;1642702;1642762;1642064;1642706;1642704;2313565;2313566;2313567;2313568;2313569;2313570;2299174;2313573;2317904;2317903;2317899;2317909;2317925;2317895;6480464;6484113;6907045;7240710;8548553;8548631;8548635;8548651;8548620;2317564;8548639;8548540;8548597;8548598;8548542;8548600;8548601;8548621;8548628;8548609;8548666;8548633;8548545;8548544;8548615;8548602;8548653;8548547;8548626;8548610;8548538;8548548;8548549;8548550;8548551;8548599;8548603;8548604;8548608;8548612;8548613;8548625;8548539;8548546;8548623;8548627;8548632;8548614;8547969;8548541;2317487;8548634;8548659;8548624;8554872;8699517 10688652;10751359;10827151;10919643;10967068;11390418;11669408;11818401;11893931;12100369;12115353;12419930;12706940;12819026;14630698;14685170;14712301;15008956;15118756;15127882;15238569;15267172;15505072;15525877;15713721;15734864;16117796;16186340;16246197;16297324;16340242;16421510;16459153;16570015;16572191;16723436;16759302;16974053;16982975;17049072;17389513;17549731;18175071;18335393;18697873;18941443;19013152;19060265;19471602;19576567;20017454;20053975;20416453;20662835;20848408;21443522;21520010;21562589;22140459;22286923;22730814;23585864;24387171;24416191;8952317;9073133;9308731;9350587;9823327 10421795;10725250;10848592;10871856;10962009;11342433;11597998;11781826;11799124;11821397;11830493;11836782;11839685;11867177;11909963;11928807;11929792;11943656;11994287;11999653;12051906;12124772;12151078;12151314;12163032;12168776;12209727;12233882;12244174;12368906;12372819;12374695;12379223;12393863;12413766;12456016;12477932;12482615;12493396;12524084;12619035;12645668;12682635;12690205;12694198;12695295;12707786;12713878;12732844;12757411;12792760;1280830;12812389;12817761;12821940;12837287;12837293;12847110;12853948;12865405;12875981;12879228;12883672;12918110;12932865;1321034;1328193;1334458;1386343;14500721;14512973;14517989;14519655;14524531;14555767;14626426;14647442;14672920;14679171;14688531;14694016;14697967;14699503;14704632;14764801;1482348;14983012;14989981;15019814;15059978;15064106;15087580;15112327;15120936;15153617;15156160;15160305;15161915;15167892;15172968;15191880;15192042;15203188;15226629;15229174;15239259;15240510;15241561;15250830;15287857;15292253;1531136;15334679;1535333;15359093;15474099;15489334;15492846;15502712;15504551;15504940;15505094;15528455;15537870;15550554;15590419;15602080;15608673;15613483;15637066;15659325;15678502;15695515;15717924;15760460;15770726;15777839;15781227;15792801;15824471;15875782;15880501;15913806;16000876;16006475;16014626;16019534;16039997;16052207;16083876;16102116;16136515;16144920;16216128;16278380;16279944;16303761;16338307;16403414;16469801;16498238;16505200;1655405;16554660;16621453;16627020;16648972;16651617;16677802;16684952;16709175;16709855;16728464;16740060;16790083;16807517;16849525;16859527;16861928;16885407;16902162;16951184;17062664;17099727;17143015;17154373;17178341;17203235;1720571;17215249;17244893;17262819;17307814;17322284;17372204;17384084;17435158;17452892;17464544;17518673;17520376;17593080;17597814;17599773;17625116;17625596;17626784;17702746;17765959;17872495;17876341;17901400;17907155;17911637;17921114;17942284;17967179;17971014;17973092;17981115;17981731;17992475;18003605;18004740;18021988;18024311;18053801;18059365;18063891;18065658;18091351;18096875;18164961;18234969;1824873;18251163;18264938;1826653;1826837;18274928;18291418;1831266;1831432;18319552;1832556;18326526;1835383;1837206;1837534;1838014;18422749;18424072;18491380;18495663;18501120;18504429;18539758;18564920;18569024;18585357;18628208;18691255;18774952;18787186;18789327;18812567;18813782;18844210;18956268;18973760;18979225;18992144;19010854;19020551;19020737;19021063;19021204;19023030;19047046;19050584;19114710;19118941;19127344;19154948;19184985;19188684;19223201;19223316;19230022;19249525;19281086;19281453;19318497;19321255;19386985;19389925;19416273;19423096;19423540;19426716;19433454;19452723;19468262;19470725;19478261;19508152;19515220;19521120;19525225;19526316;19533745;19542190;19553700;19563076;19615360;19625133;19628037;19661216;19661350;19692652;19713535;19720831;19749787;19797611;19817696;19858036;19888551;19913121;19939200;19946888;19956874;19959938;19961885;20005573;20007454;20015050;20019837;20021260;20061986;20066125;20122738;20129249;20131016;20150826;20177149;20178463;20185166;20200025;20200161;20203323;20301607;20372801;20406964;20424473;20438785;20483455;20519660;20533298;20534479;20558345;20568106;20580899;20584902;20628086;20661229;20670691;20699604;20728428;20819464;20819770;20852387;20930612;20937841;20977675;20980460;21042281;21082280;21131364;21131996;21168200;21183732;21187969;21226996;21234230;21249190;21342325;21360495;21362320;21376809;21395178;21396819;21411099;21423210;21427651;21440951;21447729;2145836;21459729;21486864;21561997;21572126;21643812;21658389;21703533;21723061;21750433;21777671;21779929;21782801;21784852;21796631;21872356;21897747;21899661;21920521;21922134;21932108;22003120;22040972;22127603;22136730;22172411;22178588;22203985;22242160;22252121;22276607;22282252;22318499;22354962;22392903;22413835;22426494;22435662;22436613;22441736;22447520;22495710;22509107;22629140;22641068;22675553;22689693;22722904;22741575;22744972;22749438;22763439;22771249;22788978;22802291;22843899;22848710;22850551;22854048;22859706;22876972;22892737;22915589;22936342;22953646;22989111;22996389;23045285;23047829;23049908;23053181;23081981;23094709;23123275;23134111;23154434;23212923;23273597;23288153;23314853;23320110;23327866;23333382;23359207;23386689;23402812;23431957;23484149;23498810;23499762;23532910;23536720;23549785;23657814;23667593;23701640;23737134;23749170;23773083;23882082;23898085;23911532;23924923;24018067;24023859;24025166;24055447;24099107;24118504;24126105;24142532;24160245;24218051;24259426;24366484;24426773;24518591;24609899;24634221;24714552;24780821;24800946;24810547;24865428;24939420;2524251;2528952;2531289;3276728;7487981;7489981;7593211;7608139;7822318;8041760;8157651;8175137;8288571;8380735;8603858;8631970;8662798;8889548;8898205;8994391;9314600;9352114;9493272;9817840;9886295 3082 C9JDP4;C9JJ35;C9JS80;C9WSJ3;P14210 AB208900;ABBA01058066;ABBA01058067;AC004960;AK291674;AK313694;AMYH02016153;AMYH02016154;AMYH02016155;AX451992;AY246560;BC022308;BC063485;BC105797;BC130284;BC130286;BM153501;BM971901;BU533235;CH236949;CH471091;D90334;FJ830861;FJ830862;L02931;M29145;M55379;M60718;M73239;M73240;M75971;M75983;M75984;M77227;NG_016274;NM_000601;NM_001010931;NM_001010932;NM_001010933;NM_001010934;U46010;X16323;X57574;XM_006715956 AAA35980;AAA52648;AAA52649;AAA52650;AAA64239;AAA64297;AAC50539;AAC71655;AAG53459;AAG53460;AAH22308;AAH63485;AAI05798;AAI30285;AAI30287;AAO61091;ACX45437;ACX45438;ADR83265;BAA14348;BAD92137;BAF84363;CAA34387;CAA40802;CAD38058;EAL24189;EAW76992;EAW76993;NP_000592;NP_001010931;NP_001010932;NP_001010933;NP_001010934;P14210;XP_006716019 Hs.396530 1335823;1342229;1662986;1674814;1710968;1747753;2116065;2185093;5123038;7186837;7187414 D7S2748;D7S3046;D7S644;D7S804;G66820;RH47062;SHGC-31157;SHGC-84463;STS-AA015815 DFNB39;F-TCF;HGFB;HPTA;SF OTTHUMP00000161349;OTTHUMP00000206710;OTTHUMP00000206711;OTTHUMP00000206712;OTTHUMP00000206713;OTTHUMP00000206730;fibroblast-derived tumor cytotoxic factor;hepatocyte growth factor;hepatopoeitin-A;hepatopoietin-A;lung fibroblast-derived mitogen APPROVED protein-coding ENSG00000019991 HGNC:4893 00799 108010;125853;135300;142409;148000;266600;604302;608265;610733 REVIEWED 1606456 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009] 8 8 8 p11.1 41950967 42005677 + 42995592 43057970 + 43140449 43202827 + 6480464;7240710;8554872;8699517 12477932;14702039;15591281;16303743;16344560;16421571;16960811;17033958;17397050;17897319;18518886;18976975;19479962;19823584;20583299;20650889;20825431;21957468 138050 E5RGH7;E5RH11;E5RJC4;E5RJN0;H0YAZ0;Q68CP4;Q8IVU6 ABBA01021185;ABBA01021186;ABBA01021187;ABBA01021188;ABBA01021189;ABBA01021190;ABBA01021191;ABBA01021192;ABBA01021193;AC113191;AK025895;AK057293;AK074839;AK304441;AK308922;AL355714;AL832870;AMYH02017915;BC012452;BC042037;BC050672;BC056149;BE327420;CR457352;CR749838;DA395558;DB128369;NG_009552;NM_152419;XM_005273409;XM_005273410;XM_005273411;XM_005273412 AAH12452;AAH42037;BAB15273;BAB71412;BAG65262;CAG33633;CAH18694;NP_689632;Q68CP4;XP_005273466;XP_005273467;XP_005273468;XP_005273469 Hs.600384 1653911;1668808;1676450;1676992;1677068;1677178;1686622;1686702;1688726;1734082;1739973;1848288;1851937;2153290;5019707;5093874 D8S1581;D8S1681;D8S94;G32550;G32975;RH16195;RH26317;RH36860;RH67241;RH67667;RH68155;RH69425;SGC33128;SHGC-34736;SHGC-57613;WI-17499 DKFZp686G24175;FLJ22242;FLJ32731;HGNAT;MPS3C;TMEM76 OTTHUMP00000225906;transmembrane protein 76 APPROVED protein-coding ENSG00000165102 HGNC:26527 252930;610453 REVIEWED 1351064 HHAT hedgehog acyltransferase 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002] 1 1 1 q32 183724968 184075988 + 210501596 210849638 + 210328252 210676296 + 5510013;6480464;6484113;8554872 20716670 11160356;11486055;12477932;14702039;15489334;16344560;16710414;20379614;21906983;22626636;22733134;23112049;23142968 55733 B1AK61;B7Z2U8;B7Z5N1;F5H2Y1;Q5VTY9 ABBA01048197;ABBA01048198;ABBA01048199;ABBA01048200;ABBA01048201;ABBA01048202;AC096636;AC217414;AK001586;AK092186;AK295130;AK297193;AK298991;AK299200;AK302955;AK316190;AK316524;AL034351;AL035414;AL049848;AL590653;AL691441;AMYH02002606;AMYH02002607;AMYH02002608;AMYH02002609;AMYH02002610;AMYH02002611;AMYH02002612;BC039071;BC051191;BC117130;BX255872;CH471100;CR936628;DA336461;DB077466;DB080645;KF455134;NM_001122834;NM_001170564;NM_001170580;NM_001170587;NM_001170588;NM_018194;XM_006711441 AAH39071;AAI17131;ADR83019;BAA91772;BAG52495;BAH11984;BAH12521;BAH12917;BAH12967;BAH13854;BAH14561;BAH14895;CAB42852;CAI56771;EAW93426;EAW93427;EAW93428;EAW93429;EAW93430;NP_001116306;NP_001164035;NP_001164051;NP_001164058;NP_001164059;NP_060664;Q5VTY9;XP_006711504 Hs.58650 1686937;1704784;1705442;1708096;1723381;1743339;1751047;1765655;1766547;1767288;1853857;2107319;2156167;5095953 AL009390;G16266;GDB:315025;MART2__7375;RH118432;RH94351;SHGC-104993;SHGC-149101;SHGC-149865;SHGC-32405;SHGC-76296;SHGC-79859;SHGC-81446;SHGC-83802 FLJ10724;FLJ34867;GUP2;MART-2;MART2;SIT;SKI1;Skn;rasp;ski OTTHUMP00000034608;OTTHUMP00000034611;melanoma antigen recognized by T cells 2;melanoma antigen recognized by T-cells 2;protein-cysteine N-palmitoyltransferase HHAT;skinny hedgehog protein 1 APPROVED protein-coding ENSG00000054392 HGNC:18270 12041 605743 VALIDATED 6481321 HHATL-AS1 HHATL antisense RNA 1 100874044 AC006059 APPROVED ncrna HGNC:42439 1344080 HHC2 hypocalciuric hypercalcemia 2 ASSOCIATED WITH HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 (inferred); Hypocalciuric hypercalcemia, familial, type 2 (inferred) 7240710 8317484 3086 HGNC:4899 145981;615361 1343441 HHC3 hypocalciuric hypercalcemia 3 (Oklahoma type) ASSOCIATED WITH Familial benign hypercalcemia, type 3 (inferred) 7240710 9915958 9151 HGNC:4900 600740 1344894 HHATL hedgehog acyltransferase-like INVOLVED IN negative regulation of N-terminal protein palmitoylation (ortholog); FOUND IN perinuclear region of cytoplasm; endoplasmic reticulum (ortholog); INTERACTS WITH diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 3 3 3 p22.1 42674550 42684714 - 42734155 42744319 - 42692663 42702848 - 6480464 10574461;11374908;12477932;15489334;20646595;21078624 57467 C9JEF1;C9JHL0;C9JJ25;C9JKQ1;C9JL39;H7C1Q3;Q5QTR4;Q9HCP6 AB032999;AB042554;ABBA01024763;AC006059;AF109356;AMYH02006629;BC022529;BI544867;BI596471;CH471055;NM_020707;NR_027753;XM_006713273;XM_006713274;XM_006713275 AAH22529;AAQ13504;BAA86487;BAB17758;EAW64666;EAW64667;EAW64668;NP_065758;Q9HCP6;XP_006713336;XP_006713337;XP_006713338 Hs.476041 1849774;5122605 D3S2783E;SHGC-31064 C3orf3;GUP1;KIAA1173;MBOAT3;MSTP002;OACT3 GUP1 glycerol uptake/transporter homolog;GUP1, glycerol uptake/transporter homolog;OTTHUMP00000164037;OTTHUMP00000209595;chromosome 3 open reading frame 3;glycerol uptake/transporter homolog;hedgehog acyltransferase-like protein;membrane bound O-acyltransferase domain containing 3;protein-cysteine N-palmitoyltransferase HHAT-like protein protein-coding ENSG00000010282 HGNC:13242 12166 608116 VALIDATED 733649 HGS hepatocyte growth factor-regulated tyrosine kinase substrate The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010] 17 17 17 q25 76295942 76314294 + 79650962 79669151 + 81683932 81702121 + 1580863;4892619;6480464;6484113;6907045 19535733 10514494;10809762;10825299;10861283;10970851;11031247;11094085;11110793;11285248;11397816;11532964;11687594;11916981;11984006;11988743;12021262;12151521;12207904;12218189;12230472;12444101;12444102;12477932;12551915;12554698;12802020;12847087;12900394;12900395;12953068;13679051;14519844;14602072;14702039;15071556;15113837;15212941;15218037;15240819;15489334;15509564;15592455;15611048;15772161;15809337;15828871;15944737;16084064;16159959;16189514;16212419;16352611;16429130;16448788;16462748;16467847;16497222;16516194;16707569;16713569;16716190;16735510;16771824;16832584;17014699;17101784;17138565;17182674;17229889;17320394;17445799;17545595;17624298;17675298;17686993;17804729;17853893;18029348;18187620;18362181;18445679;18508924;18675823;18767904;19019082;19056867;19158374;19362549;19478092;19542561;19624486;19808888;19874558;19953087;20150893;20159979;20224683;20420830;20463881;20504764;20505072;20675381;20720151;20812348;20936779;20972266;21070952;21139048;21304933;21362618;21520210;21635887;21706016;21748597;21832049;21890473;21906983;21963094;21987572;21988832;22138215;22479182;22505724;22800866;22832105;22863883;22939629;23000965;23153581;23222715;23236378;23314748;23477725;23602387;23867513;24134837;24204276;24250222;24255178;24344129;24722188;24790097;24816145;24828152;25015289;8380735;9407053;9630564 9146 I3L165;I3L1E3;I3L1F1;I3L1P5;I3L2H4;I3L326;I3L346;O14964 ABBA01032159;ABBA01032160;AC139530;AF260566;AI365104;AK021483;AK097197;AK294190;AK303800;AMYH02034134;BC003565;BT009754;CH471099;D84064;DR001213;NM_004712;U43895;XM_005257794 AAC51929;AAF82361;AAH03565;AAP88756;ABM83477;ABM86688;BAA23366;BAG57506;BAG64754;EAW89675;EAW89676;EAW89677;EAW89678;EAW89679;NP_004703;O14964;XP_005257851 Hs.661056 5020948;5022651 D11S2921;G35510 FLJ11421;FLJ39878;HRS;Vps27;ZFYVE8 hgf-regulated tyrosine kinase substrate;human growth factor-regulated tyrosine kinase substrate;protein pp110 APPROVED protein-coding ENSG00000185359 HGNC:4897 05085 604375 REVIEWED 1354150 HHG hypergonadotropic hypogonadism 2791656 3088 HGNC:4902 6769632 HHIP-AS1 HHIP antisense RNA 1 INTERACTS WITH valproic acid 4 4 4 q31.21 142891946 142895467 - 145564068 145567590 - 144642916 144646019 - 6480464 12477932;19300500;20010834;20010835;20881960;23563607 646576 ABBA01070017;AC098588;AMYH02010242;BC039450;BX452340;HG497345;NG_011496;NR_037595 Hs.632595 1342086;2118952 D4S2998;SHGC-67826 RP11-291L15.2 APPROVED ncrna ENSG00000248890 HGNC:44182 VALIDATED 1350411 HHEX hematopoietically expressed homeobox This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [provided by RefSeq, Jul 2008] 10 10 10 q23.33 88191085 88196812 + 94449681 94455408 + 92689924 92695651 + 1580863;6480464;6907045 10597310;10871399;11551904;11701950;11889211;12477932;12554669;12588764;12655000;12826010;1360645;14517947;14555989;15016828;15024728;15062550;15187083;15242862;15489334;16189514;16540119;16582099;16854221;17293876;17463246;17463248;17463249;17618412;17632701;17786204;17804762;17827400;17928989;17971426;18039816;18162508;18210030;18231124;18372903;18388181;18426861;18437351;18461161;18469204;18477659;18516622;18544707;18591388;18597214;18598350;18618095;18633108;18713067;18719881;18755198;18984664;18991055;19002430;19008344;19020323;19020324;19033397;19053027;19072826;19082521;19117022;19139842;19172244;19225753;19228808;19247372;19258404;19258437;19279076;19324893;19324937;19336475;19368707;19380854;19401414;19502414;19592620;19602701;19622614;19720844;19741166;19741467;19794065;19808892;19862325;19892838;19933996;19956635;20028982;20041287;20043145;20075150;20080751;20161779;20176809;20203524;20215779;20384434;20424228;20460429;20490451;20503258;20509872;20550665;20571754;20580033;20581827;20597906;20616309;20647405;20703447;20712903;20724036;20802253;20816152;20862305;20879858;20889853;20927120;20929593;21056935;21059810;21368910;21510814;21533175;21656028;21833088;21890473;21988832;22443257;22487833;22506066;22540015;22693455;22874537;22923468;23036584;23166797;23349771;23445342;23929257;23945395;24189493;7858254;7911091;8096636;8103988 3087 F8VU08;Q03014 AA810064;ABBA01021892;AF182950;AK314891;AL590080;AMYH02023543;BC014336;BC015110;BC050638;BI823658;BM543214;CH471066;DB504532;L16499;NM_002729;X67235;Z21533 AAA02988;AAH14336;AAH15110;AAH50638;AAK12833;ABZ92007;BAG37405;CAA47661;CAA79730;EAW50087;EAW50088;NP_002720;Q03014 Hs.118651 1797684;2130163;2146669 HHEX_2282;RH17624;SHGC-35774 HEX;HMPH;HOX11L-PEN;PRH;PRHX OTTHUMP00000020100;OTTHUMP00000242664;OTTHUMP00000242665;hematopoietically-expressed homeobox protein HHEX;homeobox protein HEX;homeobox protein PRH;homeobox, hematopoietically expressed;proline-rich homeodomain-containing transcription factor APPROVED protein-coding ENSG00000152804 HGNC:4901 06829 604420 REVIEWED 1354359 HHIP hedgehog interacting protein This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011] 4 4 4 q28-q32 142895050 142987336 + 145567148 145662542 + 144645996 144741391 + 5510025;6480464;6484113;6907045;8554872 20844013 10050855;11435703;11731473;12477932;12975309;14702039;15294024;15489334;15754313;15970691;18391950;18391951;18391952;18559595;19252479;19266077;19300482;19300500;19343178;19561609;19561611;19893584;19915594;19996190;20010834;20010835;20173748;20379614;20397748;20546612;20656943;20800318;20846217;20853133;20881960;21119205;21210262;21397937;22080838;22140090;22301921;22406999;22457212;22897141;23284291;23440386;23456936;23459001;23563607;23731023;23752268;23780909;23935859;23994291;24439425 64399 Q96QV1 ABBA01070018;ABBA01070019;AC098588;AF326471;AK024645;AK074711;AK098525;AK291849;AMYH02010242;AMYH02010243;AMYH02010244;AMYH02010245;AY009317;AY009951;AY358747;BC009298;BC015636;BC025311;BI602235;CH471056;CS319970;HC087070;NG_011496;NM_022475;XM_005263178;XM_006714288 AAG34731;AAG35411;AAH09298;AAH25311;AAK18182;AAQ89107;ABM84544;BAB14945;BAC11154;BAF84538;CAK96038;CBI67672;EAX05054;NP_071920;Q96QV1;XP_005263235;XP_006714351 Hs.507991 1342086;1653727;1707258;1752823;1795972;2117870;2166509 D4S1278;D4S2998;HHIP_978;SHGC-106691;SHGC-59308;SHGC-67731;SHGC-79226 FLJ20992;FLJ90230;HIP OTTHUMP00000220211;hedgehog-interacting protein APPROVED protein-coding HGNC:14866 06937 606178 REVIEWED 1605638 HHIPL2 HHIP-like 2 ENCODES a protein that exhibits oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (inferred); quinone binding (inferred); INVOLVED IN carbohydrate metabolic process (inferred); oxidation-reduction process (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; calcitriol 1 1 1 q41 195914723 195940536 - 222695602 222721444 - 222522260 222548102 - 6480464 11181995;12477932;12975309;14702039;16344560;20379614;22237814 79802 Q6UWX4 ABBA01048047;ABBA01048048;AK023902;AL592148;AMYH02002747;AY358602;BC007638;BC015167;BC015201;BC016552;CH471100;DA868891;NM_024746 AAH07638;AAH15167;AAH15201;AAH16552;AAQ88965;BAB14717;EAW93274;NP_079022;Q6UWX4 Hs.665660 1339991 D1S2821 FLJ13840;KIAA1822L;RP11-378J18.1 HHIP-like protein 2;KIAA0319-like;KIAA1822-like;OTTHUMP00000035656;hedgehog interacting protein-like 2 protein-coding ENSG00000143512 HGNC:25842 08587 VALIDATED 1353531 HHLA1 HERV-H LTR-associating 1 FOUND IN extracellular region (inferred) 8 8 8 q24 129249437 129293200 - 133073733 133117512 - 132061486 132105265 - 6480464 10329003;14702039;20585627;8382789 10086 C9JL84;C9JY47 ABBA01014213;AC100868;AC131042;AK022619;AMYH02018803;AMYH02018804;CH471060;NM_001145095 C9JL84;EAW92139;EAW92140;NP_001138567 Hs.285026 1335263;1717457;7184950 D8S557;RH122232 PLA2L HERV-H LTR-associating protein 1;OTTHUMP00000179159 protein-coding ENSG00000132297 HGNC:4904 06823 604109 VALIDATED 1350112 HHLA2 HERV-H LTR-associating 2 This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 3 3 3 q13.13 106417960 106493752 + 108015353 108097132 + 108296490 108378285 + 1580863;6480464;8554872 10444326;12477932;14702039;15342556;15489334;22488247;23716685;8889548 11148 C9J7D0;C9J8J7;C9JD07;C9JY13;C9JY43;H7C523;Q9UM44 ABBA01061705;ABBA01061706;AC078855;AC135308;AF126162;AK000692;AK027132;AK296644;AK315109;AMYH02007395;AMYH02007396;BC035971;BM980981;BP293912;CH471052;NM_001282556;NM_001282557;NM_001282558;NM_001282559;NM_007072;XM_005247080 AAD48396;AAH35971;ABM83536;ABM86776;BAA91323;BAG59244;EAW79727;EAW79728;NP_001269485;NP_001269486;NP_001269487;NP_001269488;NP_009003;Q9UM44;XP_005247137 Hs.252351 1751357 SHGC-105151 B7H7 HERV-H LTR-associating protein 2;OTTHUMP00000214398;OTTHUMP00000214399;OTTHUMP00000214400;OTTHUMP00000214401;OTTHUMP00000214402;OTTHUMP00000214403;human endogenous retrovirus-H long terminal repeat-associating protein 2 protein-coding ENSG00000114455 HGNC:4905 05082 604371 REVIEWED 1349549 HHIPL1 HHIP-like 1 ENCODES a protein that exhibits oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (inferred); quinone binding (inferred); scavenger receptor activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); oxidation-reduction process (inferred); receptor-mediated endocytosis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); membrane (inferred); INTERACTS WITH fonofos; paracetamol; parathion 14 14 14 q32 80166356 80197860 + 100111480 100143011 + 99604559 99680569 + 1580863;6480464;8554872 11347906;12477932;12975309;14702039;21378990;21697133 84439 F1T0G3;Q96JK4 AB058725;AB593096;AB593097;ABBA01048551;ABBA01048552;ABBA01048553;AK095603;AL160313;AMYH02029837;AMYH02029838;AMYH02029839;AY358173;BC132877;BC136577;CH471061;NM_001127258;NM_032425;XM_006720276;XM_006720277 AAI32878;AAI36578;AAQ88540;ADR83333;BAB47451;BAJ84036;BAJ84037;EAW81676;EAW81677;NP_001120730;NP_115801;Q96JK4;XP_006720339;XP_006720340 Hs.288522 KIAA1822;UNQ9245 ARAR9245;HHIP-like protein 1;OTTHUMP00000246262;OTTHUMP00000246263 protein-coding ENSG00000182218 HGNC:19710 13895 VALIDATED 1351999 HHLA3 HERV-H LTR-associating 3 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; 5-fluorouracil 1 1 1 p31.1 69110423 69123637 + 70820493 70833706 + 70354810 70368023 + 6480464 10444326;12477932;15489334;16189514;16710414;17207965 11147 E9PSC4;Q9XRX5 ABBA01074482;ABBA01074483;AF126163;AF126164;AL158839;AMYH02001241;BC010922;BG773961;BI868263;BQ009559;CH471059;NM_001031693;NM_001036645;NM_001036646;NR_027404 AAD33288;AAD33289;AAH10922;ADQ33158;EAX06452;EAX06453;EAX06454;EAX06455;NP_001026863;NP_001031722;NP_001031723;Q9XRX5 Hs.142245 HERV-H LTR-associating protein 3;OTTHUMP00000010941;OTTHUMP00000010942;OTTHUMP00000010943;OTTHUMP00000232419;human endogenous retrovirus-H long terminal repeat-associating 3;human endogenous retrovirus-H long terminal repeat-associating protein 3 protein-coding ENSG00000197568 HGNC:4906 05083 604372 VALIDATED 1347103 HIATL2 hippocampus abundant transcript-like 2 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH methyl methanesulfonate; cadmium dichloride (ortholog) 9 9 9 q22.33 67641908 67669304 + 99708327 99775862 - 96946045 97013580 - 737633;6480464 12477932 15164053;15489334;21906983 84278 Q5VZR4;R4GN14 ABBA01042940;AK127385;AL158827;AL445670;AMYH02021303;BC005058;NR_002894 Q5VZR4 Hs.610084 1663600;2175490;2175492;5015621;5020740;5022200;5022322;5024756;5037552 D11S2560;D11S3732;D8S2279;L17809;L18426;RH48513;RH48576;RH80030;STS-AA034059 FLJ45467;MGC12945 pseudo ENSG00000196312 HGNC:23672 17102 PROVISIONAL 1606770 HIATL1 hippocampus abundant transcript-like 1 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH valproic acid; 3H-1,2-dithiole-3-thione (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 9 9 9 q22.32 67632673 67664431 + 97136833 97223202 + 94374547 94460920 + 6480464 12477932;14702039;15164053;15231747;15489334;19322201;21906983;21963094;8125298 84641 Q5SR56 ABBA01043641;ABBA01043642;AF255650;AK027659;AK222836;AK300615;AL358232;AL691447;AL832415;AMYH02021257;AMYH02021258;BC021093;BC106062;BU507687;BX359483;BX648846;CH471174;NM_032558;XM_005252277;XM_006717305 AAG44638;AAH21093;AAI06063;BAB55274;BAD96556;BAG62308;EAW92610;EAW92611;EAW92612;EAW92613;NP_115947;Q5SR56;XP_005252334;XP_006717368 Hs.555996 1671530;1714327;1851424;1855450;1858104;2175492 RH119943;RH48513;RH64909;SHGC-35906;STS-Z40916;WI-19346 FLJ14753;MGC117350 OTTHUMP00000021693;hippocampus abundant transcript-like protein 1 protein-coding ENSG00000148110 HGNC:23376 07869 VALIDATED 1318134 HIBCH 3-hydroxyisobutyryl-CoA hydrolase This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 2 2 2 q32.2 184664402 184779775 - 191069355 191184771 - 190204634 190320045 - 1580863;6480464;6907045;7240710;8554872;8699517 11580916;12477932;15342556;16344560;17160907;17474147;18187620;20000738;20877624;21139048;21890473;22505724;22939629;24299452;24816145;25027693;8125298;8824301 26275 B8ZZZ0;B9A058;F8W8A6;H7BYI7;H7C126;H7C1A5;H7C400;Q6NVY1 ABBA01062383;AC010679;AC092178;AI767349;AK222979;AK223023;AK308042;AK313651;AMYH02005434;AMYH02005435;BC005190;BC067822;BI764401;BP193393;CA448468;CA453768;CH471058;DB034438;NG_017062;NM_014362;NM_198047;U66669 AAC52114;AAH05190;AAH67822;AAX93234;AAY24178;BAD96699;BAD96743;EAX10873;EAX10874;EAX10875;EAX10876;EAX10877;NP_055177;NP_932164;Q6NVY1 Hs.656685 1682279;1684604;1727177;2119891;2190585 EST8H9;G62842;RH16399;RH68886;RH93943 HIBYL-COA-H 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial;3-hydroxyisobutyryl-Coenzyme A hydrolase;HIB-CoA hydrolase;HIBYLCOAH;OTTHUMP00000163512;OTTHUMP00000205554 APPROVED protein-coding ENSG00000198130 HGNC:4908 11023 250620;610690 REVIEWED 1313218 HIAT1 hippocampus abundant transcript 1 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH valproic acid; 3H-1,2-dithiole-3-thione (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 1 1 1 p21.2 98759548 98805814 + 100503670 100548933 + 100038114 100083377 + 1580863;6480464 12477932;14702039;15489334;16303743;19322201;21963094;9299464 64645 H7C3C9;Q96MC6 ABBA01045445;AC093019;AF427492;AK057172;AK075208;AK096669;AL137576;AMYH02001552;AMYH02001553;BC033696;BC064409;BC107768;CH471097;NM_033055;XM_005271118 AAH64409;AAI07769;AAI56408;AAI72469;AAL25115;BAB71375;BAC04836;BAC11473;CAB70819;EAW72976;NP_149044;Q96MC6;XP_005271175 Hs.124156 1650427;1651241;1699576;1712180;1780062;1855404;2133089 AL009708;G54141;RH103389;SHGC-154311;SHGC-75207;SHGC-75216;SHGC-75217 DKFZp564L0864 OTTHUMP00000012456;hippocampus abundant gene transcript 1;hippocampus abundant transcript 1 protein;putative tetracycline transporter-like protein;tetracycline transporter-like protein protein-coding ENSG00000156875 HGNC:23363 11022 VALIDATED 732658 HIBADH 3-hydroxyisobutyrate dehydrogenase This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011] 7 7 7 p15.2 27553696 27691196 - 27565059 27702620 - 27525440 27663001 - 1580863;6480464;6907045 12477932;12690205;12853948;15342556;15489334;15967462;16466957;18222470;19322201;19834535;20877624;21139048;21890473;22990118;23423614;3335502;8313870;9847074 11112 F8WET2;H7BZL2;P31937 AB050000;ABBA01056773;ABBA01056774;AC005091;AC007130;AF529362;AK025558;AK316605;AMYH02015416;AMYH02015417;AMYH02015418;BC013855;BC020167;BC032324;BP343005;BQ051350;CA449571;CH236948;CH471073;CS300494;KF458419;NM_152740;XM_006715640 AAH32324;AAQ09596;ABM85603;BAF42045;BAG38192;CAK32158;EAL24214;EAW93897;EAW93898;EAW93899;EAW93900;NP_689953;P31937;XP_006715703 Hs.406758 1339101;1662205;1699420;1747865;1786262;1786268;1786416;1786450;2144452;2165641;2182770;5017552 D7S2363;D7S2556;G66854;GDB:1317648;GDB:1318681;HIBADH;RH103301;RH16419;SHGC-144493;SHGC-144887;SHGC-172010;SHGC-172278 MGC40361;NS5ATP1 3'-hydroxyisobutyrate dehydrogenase;3-hydroxyisobutyrate dehydrogenase, mitochondrial;OTTHUMP00000122531 APPROVED protein-coding ENSG00000106049 HGNC:4907 12238 608475 REVIEWED 1313307 HIC2 hypermethylated in cancer 2 ENCODES a protein that exhibits protein C-terminus binding; INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; plasma membrane; INTERACTS WITH 5-fluorouracil; atrazine; formaldehyde 22 22 22 q11.21 5515817 5524520 - 21771693 21805752 + 21417404 21451463 + 1580863;6480464;8554872 10470851;10591208;11554746;12052894;12168954;12477932;12944466;14702039;15146197;15461802;15489334;16169070;18029348;19838193;20139978;21832049;22990118;24748541;8889548 23119 Q96JB3 AB028943;ABBA01001219;AF349035;AJ313204;AK023021;AL162003;AMYH02038094;AMYH02038095;AMYH02038096;AMYH02038097;AMYH02038098;AP000556;AP000557;BC009207;BC009216;BC094787;BM675330;CH878607;CN373403;CR456377;NM_015094;XM_005261395 AAH94787;AAK72951;BAA82972;CAB82344;CAC70715;CAG30263;CAK54513;CAK54812;EAW50621;NP_055909;Q96JB3;XP_005261452 Hs.632767 2132960;2132962;2159643;2219134 A006G19;A009D08;G20786;HIC2__6718 HRG22;KIAA1020;ZBTB30;ZNF907;hic-2;hic-3 HIC1-related gene on chromosome 22 protein;OTTHUMP00000198510;OTTHUMP00000198511;hypermethylated in cancer 2 protein;zinc finger and BTB domain-containing protein 30 protein-coding ENSG00000169635 HGNC:18595 07412 607712 VALIDATED 1316774 HIC1 hypermethylated in cancer 1 This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010] 17 17 17 p13.3 1974408 1978996 + 1957454 1962981 + 2055099 2059687 + 1580863;6480464 10611298;11073960;11554746;12052894;12477932;12621583;14506157;14656076;14688019;15007385;15231840;15488761;16269335;16301995;16386221;16724116;16762039;17079468;17213307;17283066;17982487;18029348;19486893;19491197;19525223;19649206;19850743;20547755;20634891;20682398;21104471;21274674;21533545;22136354;22184117;22194601;22315224;22327210;22510409;22544915;22552606;22632162;23178572;23340301;23417673;23704280;23769968;24067369;24076391;24295734;7585125;9572497;9838134 3090 A0PJI1;I3L388;K7ENQ1;Q14526;V9GYA4 ABBA01054689;ABBA01054690;ABBA01054691;AC090617;AJ007314;AJ404688;AJ550616;AJ583693;AJ583694;AMYH02032762;BC030208;BQ004706;CH471108;DQ187313;L41919;NG_027689;NM_001098202;NM_006497 AAD09201;AAH30208;AAI56195;AAI57028;ABA60890;CAA07453;CAD79467;EAW90562;EAW90563;EAW90564;NP_001091672;NP_006488;Q14526 Hs.695682;Hs.72956 1746659;1746685;1746687;1746689;1746691;1746693;1746695;1746697;1746699;1746701;1746703;1746705;1746707;1746709;1856304;2172511;2190835 D17S30_-_XTB4;G54752;G54863;G54864;G54865;G54866;G54867;G54868;G54869;G54870;G54871;G54872;G54874;G54875;HIC1;RH78924;WI-11584 ZBTB29;ZNF901;hic-1 hypermethylated in cancer 1 protein;zinc finger and BTB domain-containing protein 29 APPROVED protein-coding ENSG00000177374 HGNC:4909 04826 603825 REVIEWED 1322878 HID1 HID1 domain containing INVOLVED IN intracellular protein transport; response to brefeldin A; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; cytoplasmic microtubule; extracellular vesicular exosome; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; cyclosporin A; N-acetyl-1,4-benzoquinone imine 17 17 17 q25.1 69540064 69562127 - 72946837 72968900 - 74950742 74972805 - 6480464;8554872 10562567;11281419;12477932;14702039;15489334;16189514;16344560;18029348;18854154;20368287;21337012;21906983 283987 E9PIM7;E9PMS4;J3KSF1;Q8IV36;X6R4D2 ABBA01028821;AC087651;AK074401;AK075111;AK095565;AK125514;AK304081;AL137556;AMYH02033981;BC032219;BC035372;BX496609;CH471099;DA336027;NM_030630;XM_005257226;XM_005257227 AAH32219;AAH35372;ADZ16038;BAB85070;BAC11407;BAG64988;CAB70810;EAW89217;EAW89218;EAW89219;EAW89220;EAW89221;NP_085133;Q8IV36;XP_005257283;XP_005257284 Hs.11067 2124633 RH12017 C17orf28;DMC1;FLJ43526;HID-1 HID1 domain-containing protein;OTTHUMP00000233035;OTTHUMP00000233048;UPF0663 transmembrane protein C17orf28;down-regulated in multiple cancers 1;downregulated in multiple cancer 1;hypothetical protein LOC283987;protein hid-1 homolog APPROVED protein-coding ENSG00000167861 HGNC:15736 05766 605752 VALIDATED 5508556 HIF1A-AS1 HIF1A antisense RNA 1 14 q23.2 61681041 61695823 - 15146197;19854946;21897117;24875884 100750246 ABBA01018302;AL137129;AMYH02029316;CN270307;NR_047116 Hs.713476 5'aHIF-1A;5'aHIF1alpha APPROVED ncrna ENSG00000258777 HGNC:43014 614528 VALIDATED 5508555 HIF1A-AS2 HIF1A antisense RNA 2 (non-protein coding) q23.2 16344560;21897117 100750247 DA652223 1658573;1730293;2128788;7184704 D14S87E;RH70592;SGC35483 3'aHIF-1A miscrna HGNC:43015 614529 8699031 HID1-AS1 HID1 antisense RNA 1 17 q25.1 74970631 74975728 + 102723641 ABBA01028821;AC087651;AMYH02033981;CD515974;HG509443;HY081987;NR_110878;XR_424866;XR_430016;XR_433437 ncrna ENSG00000263586 HGNC:51181 VALIDATED 6480907 HIF1AP1 hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) pseudogene 1 14 14 75583129 75583311 - 75116426 75116608 - 100874523 ABBA01030707;AL049780;AMYH02029530;NG_032553 pseudo HGNC:43016 INFERRED 1605351 HIF3A hypoxia inducible factor 3, alpha subunit The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011] 19 19 19 q13.32 43605284 43651680 + 46800303 46846690 + 46297046 46343433 + 6480464;6483352;8554872 22169972 11573933;11734856;12119283;12477932;12538644;14702039;15319539;15474027;16126907;16182248;16344560;16775626;17121608;17998805;18029348;19694616;20416395;20551700;21069422;21404626;21479871;23451260;23485455;24092767;24371328;8889548 64344 B2RBI6;E9PJR0;E9PLC8;E9PNQ7;H0YDZ5;H0YE02;M0R104;Q9Y2N7 AB054067;AB118749;AB295039;ABBA01040966;ABBA01040967;ABBA01040968;ABBA01040969;AC007193;AF079154;AF463492;AK021421;AK021653;AK021881;AK024095;AK027725;AK297828;AK299699;AK304747;AK314680;AL541807;AMYH02036217;AMYH02036218;AU143858;BC026308;BC080551;BE250295;BE250712;BI772109;BM971722;BQ706970;CA437428;CF593418;CH471126;DA559979;DA562618;DB176660;DC423791;DN989983;DR001068;NG_029679;NM_022462;NM_152794;NM_152795;NM_152796;XM_005259152;XM_005259153;XM_005259154;XM_005259155;XM_005259156;XM_006723324;XM_006723325;XR_243952 AAC99397;AAD22667;AAD22668;AAH26308;AAH80551;AAL69947;BAB13819;BAB13865;BAB14824;BAB55324;BAB69689;BAD93355;BAG07185;BAG37233;BAG60164;BAG61601;BAG65505;EAW57408;EAW57409;EAW57410;EAW57411;EAW57412;EAW57413;EAW57414;NP_071907;NP_690007;NP_690008;NP_690009;Q9Y2N7;XP_005259209;XP_005259210;XP_005259211;XP_005259212;XP_005259213;XP_006723387;XP_006723388 Hs.420830 1651434;1657242;1740077;2141417;2176249;5014740;5015619;5016851;5019070;5020740;5024413;5037552 D11S3114;D12S1977;D17S610;D19S666E;D4S2902;D8S2279;G44334;L17809;L17877;RH68490;RH80031;STS-AA027108 HIF-3A;HIF-3A2;HIF-3A4;IPAS;MOP7;PASD7;bHLHe17 HIF-3-alpha;HIF3-alpha;HIF3-alpha-1;OTTHUMP00000180608;OTTHUMP00000180609;OTTHUMP00000180610;OTTHUMP00000230128;OTTHUMP00000230131;OTTHUMP00000230251;OTTHUMP00000230252;PAS domain-containing protein 7;basic-helix-loop-helix-PAS protein MOP7;class E basic helix-loop-helix protein 17;hypoxia-inducible factor 3-alpha;hypoxia-inducible factor-3 alpha 4;inhibitory PAS domain protein;member of PAS protein 7 APPROVED protein-coding ENSG00000124440 HGNC:15825 17104 609976 REVIEWED 1603666 HIGD1A HIG1 hypoxia inducible domain family, member 1A INVOLVED IN negative regulation of apoptotic process; FOUND IN protein complex; INTERACTS WITH aflatoxin B1; arsenous acid; copper atom 3 3 3 p22.1 42764774 42783944 - 42824400 42846027 - 42782908 42804535 - 6480464 10690527;11042152;11076863;11230166;11256614;12477932;15342556;15489334;15489336;16344560;16381901;17314511;17353931;20877624;21139048;21890473;22355194;22939629;23000965;23251661;23646141;23878241;24816145;8125298;8889548 25994 C9JAW5;C9JNU6;Q9Y241 ABBA01024763;AC099329;AF077034;AF145385;AK225461;AK225571;AK311815;AL110233;AMYH02006629;AMYH02006630;BC000601;BC009583;BC009594;BC070277;BG708126;BM983292;BM983580;BP208784;BP370118;CH471055;CR457385;DA428926;NM_001099668;NM_001099669;NM_014056 AAD27767;AAD33954;AAH00601;AAH09583;AAH09594;AAH70277;BAG34758;CAB53686;CAG33666;CAL38705;EAW64673;EAW64674;EAW64675;EAW64676;EAW64677;NP_001093138;NP_001093139;NP_054775;Q9Y241 Hs.593134;Hs.728813 1698822;1854514;2147320;5118885 D11S3752;RH102975;RH45613;WI-16035 DKFZp564K247;HIG1;RCF1a 2210020B17Rik;7420700H20Rik;HIG1 domain family member 1A;HIG1 domain family member 1A, mitochondrial;HIG1 domain family, member 1A;OTTHUMP00000209615;OTTHUMP00000209624;OTTHUMP00000209650;OTTHUMP00000209651;RCF1 homolog A;hypoxia inducible gene 1;hypoxia-inducible gene 1 protein protein-coding HGNC:29527 13651 VALIDATED 1317966 HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor ENCODES a protein that exhibits ankyrin repeat binding; carboxylic acid binding; cofactor binding; INVOLVED IN negative regulation of Notch signaling pathway; negative regulation of transcription from RNA polymerase II promoter in response to hypoxia; oxidation-reduction process; PARTICIPATES IN hypoxia inducible factor pathway; FOUND IN cytoplasm; nucleus; perinuclear region of cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-chloro-7-iodoquinolin-8-ol; amphotericin B 10 10 10 q24 96033472 96051511 + 102295641 102313681 + 100535884 100553924 + 1580863;1334466;6480464;6483358;6483352;6484113 14597660;19364912;22169972 11641274;11823643;11959990;12042299;12080085;12215170;12432100;12446723;12477932;12482756;14701857;14702039;14734545;15280364;15489334;16189514;16385451;17003112;17135241;17244529;17382325;17573339;17636018;17682059;18096060;18280659;18299578;18398039;18611856;18676680;18927305;18936059;19060904;19074848;19134330;19170196;19245366;19322201;19401150;19615732;19625176;19692168;19696166;19726677;19940151;20145132;20453000;20720525;20727020;21069436;21139048;21177872;21251231;21443853;21732131;21808058;21890473;21906983;22002313;22532441;22645313;22797925;22891326;23000965;23351038;23362303;23606740;24100311;24337577;24388053 55662 E9PL41;E9PNR8;Q9NWT6 ABBA01063224;ABBA01063225;AF395830;AK000622;AK025680;AK295353;AL133352;AL359615;AMYH02023658;AW015561;BC007719;BC015574;CH471066;JC258731;JC303370;NM_017902 AAH07719;AAL27308;ABM83693;ABM87012;BAA91291;BAB15213;BAG58320;CAB94885;CDM55393;CDM55574;EAW49817;EAW49818;NP_060372;Q9NWT6 Hs.500788 1665589;1673143;2191147;2217422 A007K11;HIF1AN_3604;MARC_15337-15338:1017677542:1;STS-W37897 DKFZp762F1811;FIH-1;FIH1;FLJ20615;FLJ22027 OTTHUMP00000020284;OTTHUMP00000233708;factor inhibiting HIF-1;factor inhibiting HIF1;hypoxia-inducible factor 1-alpha inhibitor;hypoxia-inducible factor asparagine hydroxylase;peptide-aspartate beta-dioxygenase protein-coding HGNC:17113 09426 606615 VALIDATED 5491157 HIGD1AP10 HIG1 hypoxia inducible domain family, member 1A pseudogene 10 11 11 11 q13.1 62239465 62254154 - 64912436 64913466 - 65144965 65145995 - 100287960 ABBA01024134;AMYH02024953;AP003068;NG_027526 1771156;2135009 G33104;L18436 pseudo HGNC:43005 INFERRED 6480918 HIGD1AP11 HIG1 hypoxia inducible domain family, member 1A pseudogene 11 1 1 53538785 53539083 - 53073113 53073411 - 100874453 ABBA01074746;AL445183;AMYH02001034;NG_032547 pseudo HGNC:43006 INFERRED 5491155 HIGD1AP12 HIG1 hypoxia inducible domain family, member 1A pseudogene 12 1 1 1 p13.2 110164878 110170148 + 111922892 111923191 + 111380270 111380569 + 100130383 ABBA01068397;AL356387;AMYH02001727;NG_032000 pseudo HGNC:43007 INFERRED 2303458 HIGD1AP1 HIG1 hypoxia inducible domain family, member 1A pseudogene 1 12 12 12 q13.13 53183631 53184975 + 53535744 53537088 + 53141960 53143304 + 15869325 100129086 ABBA01008315;AC073573;AMYH02026514;DQ052161;NG_009611 HIG1;HIGD1D;HIGD1DP APPROVED pseudo HGNC:22804 INFERRED 6480920 HIGD1AP13 HIG1 hypoxia inducible domain family, member 1A pseudogene 13 4 4 79570138 79570405 - 78648984 78649251 - 100874454 ABBA01063383;AC112253;AMYH02009543;NG_032548 pseudo HGNC:43008 INFERRED 6480921 HIGD1AP14 HIG1 hypoxia inducible domain family, member 1A pseudogene 14 4 4 110594978 110595277 + 109673822 109674121 + 100874455 ABBA01063783;AC004067;AMYH02009898;NG_032549 pseudo HGNC:43009 INFERRED 6484099 HIGD1AP15 HIG1 hypoxia inducible domain family, member 1A pseudogene 15 20 20 20 p12.2 10379697 10385340 + 10315002 10315866 + 10334354 10335218 + 100289605 ABBA01053932;AL023913;AMYH02036697;NG_032775 1753363 SHGC-107163 pseudo HGNC:43010 INFERRED 6480924 HIGD1AP16 HIG1 hypoxia inducible domain family, member 1A pseudogene 16 20 20 34466356 34466652 + 35878434 35878730 + 100874476 ABBA01019138;AL078461;AMYH02037010;NG_032550 pseudo HGNC:43011 INFERRED 6480929 HIGD1AP17 HIG1 hypoxia inducible domain family, member 1A pseudogene 17 14 14 31433532 31433827 + 30964326 30964621 + 100874477 ABBA01061405;AL049830;AMYH02028943;NG_032551 pseudo HGNC:43012 INFERRED 6480922 HIGD1AP18 HIG1 hypoxia inducible domain family, member 1A pseudogene 18 8 8 77925990 77926288 - 77013754 77014052 - 100874456 ABBA01041999;AC090810;AMYH02018257;NG_032552 pseudo HGNC:43013 INFERRED 6480915 HIGD1AP2 HIG1 hypoxia inducible domain family, member 1A pseudogene 2 13 13 81847005 81847302 + 81272870 81273167 + 100874450 ABBA01021716;AL353633;AMYH02028360;NG_032523 pseudo HGNC:42642 INFERRED 6480916 HIGD1AP4 HIG1 hypoxia inducible domain family, member 1A pseudogene 4 2 2 224262983 224263262 - 223398265 223398544 - 100874435 ABBA01023797;AC079120;AMYH02005875;NG_032542 pseudo HGNC:43000 INFERRED 6480386 HIGD1AP3 HIG1 hypoxia inducible domain family, member 1A pseudogene 3 5 5 174059932 174060209 + 174632929 174633206 + 100859920 ABBA01044009;AC117531;AMYH02012794;NG_031935 pseudo HGNC:42998 INFERRED 5491156 HIGD1AP5 HIG1 hypoxia inducible domain family, member 1A pseudogene 5 11 11 11 p15.1 18255289 18260709 + 18128159 18128390 + 18106612 18106843 + 100289300 ABBA01061060;AC090099;AMYH02024387;NG_031919 pseudo HGNC:42999 INFERRED 6480911 HIGD1AP6 HIG1 hypoxia inducible domain family, member 1A pseudogene 6 8 8 76214531 76214809 + 75302296 75302574 + 100874436 ABBA01041993;AC022274;AC105218;AMYH02018242;NG_032543 pseudo HGNC:43001 INFERRED 6480917 HIGD1AP8 HIG1 hypoxia inducible domain family, member 1A pseudogene 8 12 12 11634297 11634594 + 11481363 11481660 + 100874451 ABBA01067822;AC078950;AMYH02026031;NG_032545 pseudo HGNC:43003 INFERRED 6480919 HIGD1AP9 HIG1 hypoxia inducible domain family, member 1A pseudogene 9 12 12 50013096 50013395 + 49619313 49619612 + 100874452 ABBA01031529;AC020612;AMYH02026447;NG_032546;NG_032901 pseudo HGNC:43004 INFERRED 730935 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011] 14 14 14 q23.2 42212391 42265247 + 62162118 62214977 + 61695401 61748259 + 1580863;1601553;1626317;1626323;625730;1626327;1626334;1626330;1626332;1626322;1626331;1334463;1334466;1580561;1626320;1626324;2301848;2306222;2306224;2306225;2306226;2291911;2293195;2306227;2306223;5147886;5147885;6480464;5148013;6483352;6483503;6484113;6907045;8694462;8695934;9068928;8695948;8695942;632996;9068927;8695956;8694460;7364887;9068465;9068477;9068892;8694474;9068466;9068888;9068873;9068887;9068883;9068917;9068458;8694472;8694471;8695924;2293194;9068910;9068894;9068895;9068872;8694461;9068886;8695923;9068901;8695922;9068912;8693318;9068903;8695945;8696025;9068875;632997;9068897;8695972;9068455;8695920;8695936;9068459;8695963;9068924;9068877 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3091 A8MYV6;D0VY79;F8W9L0;Q16665 AB073325;AB500182;AB733094;ABBA01018302;AF050127;AF207601;AF207602;AF208487;AF304431;AJ227916;AK093749;AK296876;AK299551;AK304315;AK304436;AK312397;AL137129;AMYH02029316;AU123241;BC012527;BT009776;BX648795;CH471061;CN264295;CN264320;DC344032;FJ790247;NG_029606;NM_001243084;NM_001530;NM_181054;U22431;U29165;X72726 AAC50152;AAC51210;AAC68568;AAF20139;AAF20140;AAF20149;AAG43026;AAH12527;AAP88778;ACN88547;BAB70608;BAG35314;BAG59438;BAG61496;BAG65167;BAG65259;BAI49183;BAM28632;EAW80806;EAW80807;EAW80808;EAW80809;NP_001230013;NP_001521;NP_851397;Q16665 Hs.597216;Hs.719495 1658573;1704208;1730293;1742641;1793350;1793352;1793354;1797126;2118229;2128788;2183333;2189461;5015619;5015961;5024413;5037552;5491260;5491421;7184704 D11S3114;D14S87E;D15S1477;D8S2279;G35879;GDB:198178;HIF1A;L17877;MARC_11585-11586:1002657151:1;MARC_6691-6694:992007331:1;MARC_6693-6692:992007336:1;PMC212228P1;PMC212228P2;PMC212228P3;RH70592;SGC35483;SHGC-32981;SHGC-83122 HIF-1A;HIF-1alpha;HIF1;HIF1-ALPHA;MOP1;PASD8;bHLHe78 ARNT interacting protein;ARNT-interacting protein;HIF-1-alpha;OTTHUMP00000179061;OTTHUMP00000179062;OTTHUMP00000179063;OTTHUMP00000245148;PAS domain-containing protein 8;basic-helix-loop-helix-PAS protein MOP1;class E basic helix-loop-helix protein 78;hypoxia-inducible factor 1 alpha isoform I.3;hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor);hypoxia-inducible factor 1-alpha;hypoxia-inducible factor1alpha;member of PAS protein 1;member of PAS superfamily 1 APPROVED protein-coding ENSG00000100644 HGNC:4910 04517 603348 REVIEWED 6480912 HIGD1AP7 HIG1 hypoxia inducible domain family, member 1A pseudogene 7 7 7 40155261 40155542 + 40115662 40115943 + 100874437 ABBA01058154;AC006023;AMYH02015572;NG_032544 pseudo HGNC:43002 INFERRED 1602019 HIGD1C HIG1 hypoxia inducible domain family, member 1C FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog) 12 12 12 q13.12 50150064 50166514 + 51346200 51364668 + 50952417 50970885 + 6480464 15869325;16541075;17554300 613227 A8MV81 ABBA01031591;ABBA01031592;AC008121;AMYH02026475;DQ029494;DW009649;NM_001109619;XM_005269073;XM_006719550 A8MV81;AAI72304;NP_001103089;XP_005269130;XP_006719613 Hs.702849 1657718;1700758;1858364 RH104004;STS-Z41143;WI-18303 GM921;UBIE;UBIE2 HIG1 domain family member 1C;HIG1 domain family, member 1C;OTTHUMP00000246290 protein-coding HGNC:28044 VALIDATED 1603886 HIGD2A HIG1 hypoxia inducible domain family, member 2A INVOLVED IN negative regulation of apoptotic process; FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); respiratory chain (inferred); INTERACTS WITH cobalt dichloride; hydralazine; valproic acid 5 5 5 q35.2 172685350 172686317 - 175815784 175816751 + 176388783 176389750 + 6480464 12477932;15489334;20877624;21832049 192286 Q9BW72 ABBA01033501;AC138956;AMYH02012812;BC007502;CH471195;NM_138820 AAH07502;ABM82819;ABM86006;EAW85081;EAW85082;NP_620175;Q9BW72 Hs.534575 1735464;2147655 D5S1586E;G22291 MGC2198;RCF1b HIG1 domain family member 2A;HIG1 domain family member 2A, mitochondrial;HIG1 domain family, member 2A;OTTHUMP00000161239;RCF1 homolog B protein-coding ENSG00000146066 HGNC:28311 14483 PROVISIONAL 1603920 HIGD2B HIG1 hypoxia inducible domain family, member 2B FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); bis(2-ethylhexyl) phthalate (ortholog); bisphenol A (ortholog) 15 15 15 q24.1 49847184 49857547 - 72968123 72978490 - 72675782 72686149 - 6480464 12477932 123346 Q4VC39 ABBA01038724;AC009712;AMYH02030762;BC040890;CH471082;NR_002780 EAW77911;Q4VC39 Hs.434111 HIGD2BP APPROVED pseudo ENSG00000175202 HGNC:26984 PROVISIONAL 1604942 HILS1 histone linker H1 domain, spermatid-specific 1, pseudogene This locus is the ortholog of a mouse protein-coding gene that displays characteristics of a linker histone and is expressed in nuclei of late maturing spermatids. The human locus is expressed; however, the open reading frame has been disrupted by a frameshift so it is unlikely to encode a functional protein. [provided by RefSeq, Oct 2008] 17 17 17 q21.33 44709636 44710684 - 48248789 48249837 - 50171428 50172476 - 6480464;8554872 12477932;12920187;14636221;17852044;19896661;23357345 373861 P60008 ABBA01041231;AC015909;AMYH02033585;AY286318;BC033456;BC048250;BC109047;BC109048;NG_008889;NR_024192;NR_024193 AAQ23050;P60008 Hs.25934 5493477 UniSTS:486668 APPROVED pseudo HGNC:30616 12164 608101 REVIEWED 1603667 HINFP histone H4 transcription factor This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011] 11 11 11 q23.3 116149696 116162903 + 118992233 119005765 + 119121523 119135055 + 6480464;8554872 11553631;12477932;12665568;14585971;14702039;14752047;15489334;15541338;15988025;16189514;16786000;17049487;17163457;17176114;17577209;17974976;18850719;19170105;19913121;20628086;22288532;24250222;9540062 25988 E9PJA3;E9PL67;E9PPE1;Q9BQA5 ABBA01039678;ABBA01039679;AK056362;AK092869;AK300288;AK301452;AL080201;AMYH02025661;AMYH02025662;AP002956;AP003391;BC001073;BC001945;BC012856;BC017234;BF726036;BG821695;CH471065;DC326345;NM_001243259;NM_015517;NM_198971;XM_006718813;XM_006718814 AAH01073;AAH01945;AAH12856;AAH17234;ABM85573;BAG51688;BAG62045;BAG62976;CAB45773;EAW67460;EAW67461;EAW67462;EAW67463;NP_001230188;NP_056332;NP_945322;Q9BQA5;XP_006718876;XP_006718877 Hs.504091 1697764;2109517;2131486 D11S4705;MIZF_9444;RH102405 DKFZp434F162;HiNF-P;MIZF;ZNF743 MBD2 (methyl-CpG-binding protein)-interacting zinc finger protein;MBD2-interacting zinc finger 1;MBD2-interacting zinc finger protein;OTTHUMP00000232081;OTTHUMP00000232082;histone H4 gene-specific protein HiNF-P;histone nuclear factor P;methyl-CpG-binding protein 2-interacting zinc finger protein APPROVED protein-coding HGNC:17850 07387 607099 REVIEWED 1606034 HINT1 histidine triad nucleotide binding protein 1 The protein encoded by this gene can hydrolyze substrates such as AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif, which is part of the loop that binds to the substrate. This gene has been found to be a tumor suppressing gene. Several transcript variants, but only one of them protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012] 5 5 5 q31.2 126625253 126631412 - 130494976 130501041 - 131159283 131165348 - 6480464;8699517;7240710;8554872 10409428;11771757;11805111;12119013;12477932;12665801;12775419;14702039;15146197;15489334;16014379;16344560;16835243;17126529;17939685;17978999;18029348;18593937;18799291;19056867;19081673;19089909;19112177;19240791;20468064;20499681;20514075;21139048;21468541;21553311;21890473;21906983;21988832;22104145;22329685;22647378;22869114;22939629;22961002;23000965;23166591;23614568;23769013;24250222;24386364;24447405;24654937;24816145;7644499;8643579;8812426;8889549;9323207;9770345 3094 D6RC06;D6RD60;D6RE99;D6REP8;H0YC49;P49773 AA076103;ABBA01068832;AC004650;AK026557;AK054976;AK056902;AMYH02012195;BC001287;BC007090;BC028300;BF967059;BG527380;BG708765;BG942577;CD639104;CH471062;CK002748;CN290239;CR457048;DA352878;DB125655;DB289264;NG_032998;NM_005340;NR_024610;NR_024611;NR_073488;U27143;U51004 AAA82926;AAC71077;AAH01287;AAH07090;BAB15500;CAG33329;EAW62376;NP_005331;P49773 Hs.483305 1675471;1680218;1683281;2117607;2121255 G16904;RH70661;RH91489;SHGC-14493;SHGC-8671 FLJ30414;FLJ32340;HINT;NMAN;PKCI-1;PRKCNH1 OTTHUMP00000159244;adenosine 5'-monophosphoramidase;histidine triad nucleotide-binding protein 1;protein kinase C inhibitor 1;protein kinase C-interacting protein 1 protein-coding HGNC:4912 03204 137200;601314 REVIEWED 1607036 HILPDA hypoxia inducible lipid droplet-associated ENCODES a protein that exhibits receptor binding; INVOLVED IN autocrine signaling; positive regulation of cell proliferation; positive regulation of cytokine production; FOUND IN cell surface; extracellular space; lipid particle; INTERACTS WITH 1,10-phenanthroline; acetaldehyde; arsenous acid 7 7 7 q32.1 122898995 122901582 + 128095884 128098472 + 128455830 128458418 + 6480464 10690527;12477932;12690205;15489334;15642117;15930302;18550099;20134266;20624928;21124928;21614900;21906983;23898208;23916472;24250222;24876382;8125298 29923 Q9Y5L2 ABBA01057671;AC010655;AF144755;AK024729;AK222583;AL691669;AMYH02016716;BC001863;BC008573;BC093742;BC112183;CD686848;CH236947;CH471070;CS047958;CX784347;JA477880;JA885913;JA886347;JA886781;JA887215;JB234912;JB243612;JB254227;JB257200;JB264121;JB276741;JB311552;JB313842;JB318836;JB359901;JB819636;JB820070;NM_001098786;NM_013332 AAD37585;AAH01863;AAH93742;AAI12184;BAD96303;CAI70370;CCD35269;CCQ77689;CCQ77698;CCQ77707;CCQ77716;CDH48195;CDH61617;CDH61671;CDH61690;CDH88988;CDH92526;CDH92540;CDH92551;CDH92798;CDH92895;CDI44670;CDI44679;EAL24309;EAW83654;EAW83655;EAW83656;NP_001092256;NP_037464;Q9Y5L2 Hs.706124 1675758;2217424;5037552;5109281;5493261 D1S1425;D8S2279;HIG2_3580;RH94190;UniSTS:485485 C7orf68;FLJ21076;HIG-2;HIG2;MGC138388 OTTHUMP00000212377;OTTHUMP00000212378;hypoxia inducible gene 2;hypoxia-inducible gene 2 protein;hypoxia-inducible lipid droplet-associated protein;hypoxia-inducible protein 2 APPROVED protein-coding ENSG00000135245 HGNC:28859 17105 VALIDATED 1601998 HIGD1B HIG1 hypoxia inducible domain family, member 1B This gene encodes a member of the hypoxia inducible gene 1 (HIG1) domain family. The encoded protein is localized to the cell membrane and has been linked to tumorigenesis and the progression of pituitary adenomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 17 17 17 q21.31 39635780 39638345 + 42923721 42927848 + 44845988 44850742 + 6480464 10737800;12477932;15489334;16169070;21351040;22166531;22588334;22993617 51751 K7EID5;K7EKK1;Q9P298 AB038021;AB038022;ABBA01028345;AC015936;AMYH02033502;AW207459;BC020667;BE041447;BG573492;BM503772;BM876435;BQ017345;BQ292861;CH471178;CS185587;NM_001271880;NM_016438;NR_073504;XM_006721946;XM_006721947;XM_006721948 AAH20667;BAA90725;BAA90726;CAJ42768;EAW51575;EAW51576;NP_001258809;NP_057522;Q9P298;XP_006722009;XP_006722010;XP_006722011 Hs.287963 2183392;2185627 A007K28;RH17387 CLST11240;CLST11240-15 CLST 11240 protein;CLST 11240-15 protein;HIG1 domain family member 1B;HIG1 domain family, member 1B;protein CLST 11240 protein-coding ENSG00000131097 HGNC:24318 16724 REVIEWED 2974749 HINT1P1 histidine triad nucleotide binding protein 1 pseudogene 1 7 7 7 q34 137846488 137847081 - 143009623 143010216 - 143312530 143313123 - 12119013;12690205 730647 ABBA01034134;AC073342;AMYH02016934;CH236959;NG_009195;NG_009815 EAL23785 HINTP1 pseudo HGNC:18467 INFERRED 1347010 HINT3 histidine triad nucleotide binding protein 3 Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008] 6 6 6 q22.32 127020206 127043674 + 126277861 126301390 + 125956715 125980244 + 6480464 11805111;12119013;12477932;14702039;16344560;17870088;18029348;21139048;21832049;21890473;21906983;21963094;22053931;23000965;23443559;24654937 135114 Q9NQE9 ABBA01025943;ABBA01025944;AJ420577;AK056858;AK057688;AK309857;AL035689;AMYH02014436;AMYH02014437;AY035387;AY035388;AY486460;AY486461;BC015732;BX647228;CH471051;CX755653;DA393891;DA997963;NM_138571;XM_006715342 AAH15732;AAK71347;AAK71348;AAR89533;AAR89534;ABM83127;ABM86322;BAG51953;EAW48128;EAW48129;NP_612638;Q9NQE9;XP_006715405 Hs.72325 1656144 RH48474 FLJ33126;FLJ99898;HINT-3;HINT4;MGC22976 HIT-like protein;OTTHUMP00000017150;histidine triad nucleotide-binding protein 3 APPROVED protein-coding ENSG00000111911 HGNC:18468 17107 609998 VALIDATED 1318948 HINT2 histidine triad nucleotide binding protein 2 Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008] 9 9 9 p13.3 35746489 35748574 - 35812957 35815481 - 35812960 35815479 - 1580863;6480464;8554872 12119013;12477932;15489334;16341674;16762638;17207965;18653718;20877624;21139048;21832049;23659632;23682076;8125298 84681 Q8WYJ5;Q9BX68 ABBA01064984;AF085236;AF356515;AF356875;AF490476;AK222582;AL133410;AMYH02019466;AY033094;BC033538;BC047737;BI759951;BM764627;CH471071;NM_032593;XM_006716880 AAH47737;AAK37562;AAK53455;AAL40394;AAM00221;AAM09526;ADQ33064;BAD96302;EAW58331;EAW58332;EAW58333;EAW58334;NP_115982;Q9BX68;XP_006716943 Hs.70573 1850417 RH41893 HINT-2;HINT-3;HIT-17;HIT-17kDa OTTHUMP00000021363;PKCI-1-related HIT protein;histidine triad nucleotide-binding protein 2, mitochondrial;protein kinase C inhibitor-2 APPROVED protein-coding ENSG00000137133 HGNC:18344 17106 609997 VALIDATED 8551915 HINT2P1 histidine triad nucleotide binding protein 2 pseudogene 1 3 3 2403942 2404551 + 2362258 2362867 + 101929471 ABBA01020492;AC026882;AMYH02006155 pseudo HGNC:50311 MODEL 1312671 HIPK1 homeodomain interacting protein kinase 1 The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 112701213 112749655 + 114471819 114520491 + 113929197 113977869 + 6480464;8554872 12477932;12529400;12702766;12968034;14702039;15231748;15489334;15701637;16390825;16917507;18029348;19250734;19646965;20936779;21890473;21906983;21963094;22173032;22645275;23071292;23535729;23565059;23602568;23676219;24559171;9734811;9748262 204851 B4DZ33;D6RC95;D6RF28;H3BLW0;J3KP92;Q5SQL3;Q86Z02 AA995033;AB014530;AB089957;ABBA01068459;AK122662;AK302726;AL137856;AL731797;AL833829;AMYH02001779;AMYH02001780;BC028408;BC033012;BC033339;BC036057;BC052493;CH471122;NM_152696;NM_181358;NM_198268;NM_198269;XM_005270609;XM_005270610;XM_005270611;XM_005270612;XM_005270613;XM_006710443 AAH28408;AAH33012;AAH36057;BAA31605;BAC57075;BAG53650;BAG63945;CAD38689;EAW56585;EAW56586;EAW56587;EAW56588;EAW56589;EAW56590;EAW56591;EAW56592;EAW56593;NP_689909;NP_852003;NP_938009;NP_938010;Q86Z02;XP_005270666;XP_005270667;XP_005270668;XP_005270669;XP_005270670;XP_006710506 Hs.532363 1650860;1653806;1692230;1736878;1779590;2126875;2130507;2133661;2163913;2219138 AL033774;D1S2123;D1S3596;HIPK1__6720;RH68556;RH79244;SHGC-153565;SHGC-16738;SHGC-37254;SHGC-75353 KIAA0630;MGC26642;MGC33446;MGC33548;Myak;Nbak2 OTTHUMP00000013763;OTTHUMP00000013764;OTTHUMP00000013766;OTTHUMP00000013767;OTTHUMP00000013768;OTTHUMP00000218031;OTTHUMP00000218034;homeodomain interacting protein kinase 1-like protein;homeodomain-interacting protein kinase 1;nuclear body associated kinase 2b;nuclear body-associated kinase 2 APPROVED protein-coding ENSG00000163349 HGNC:19006 06418 608003 REVIEWED 736003 HIP1 huntingtin interacting protein 1 The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 7 7 7 q11.23 70031212 70236048 - 75162619 75368290 - 75533298 75738972 - 1580863;6480464;6907045;7240710 10222105;10428802;11007801;11063258;11517213;11532990;11577110;11604514;11788820;11889126;1189126;12163454;12477932;12781365;12839988;12853948;12975309;14502241;14570852;14702039;14732715;14998932;15059611;15122254;15342556;15383276;15533940;15581353;16027218;16169070;16320245;16341674;16847693;16979168;17257618;17440072;17452370;17875735;18029348;18155047;18790740;19626275;19838193;20179344;21109226;21139048;21529783;21697888;21890473;21900206;21906983;22360420;22558309;22820750;22835334;22913984;23836884;23940030;9140394;9147654;9417924;9616134 3092 B4DK46;C9JMG5;O00291;V5LU97 ABBA01005873;ABBA01005874;ABBA01005875;ABBA01005876;ABBA01005877;ABBA01005878;ABBA01005879;ABBA01005880;ABBA01005881;AC004491;AC018720;AC211429;AF365404;AF486833;AI978782;AK094866;AK296390;AK302382;AK304738;AMYH02016058;AMYH02016059;AMYH02016060;AMYH02016061;AMYH02016062;AMYH02016063;AMYH02016064;AMYH02016065;AY358103;BC082970;BC110545;BC139786;BE350891;BE389909;BG027957;BM550560;BM556334;BM739599;BP282107;BQ446538;BQ581346;CA427404;CH471220;KF437291;KF495977;NG_023251;NM_001243198;NM_005338;U79734;XM_005250304;XM_005250305;Y09420 AAC51257;AAI10546;AAI39787;AAL87037;AAL93198;AAQ88470;AHA56631;BAG59058;BAG63699;BAG65499;CAA70574;EAW71767;EAW71768;NP_001230127;NP_005329;O00291;XP_005250361;XP_005250362 Hs.329266;Hs.619089;Hs.674397 1337990;1338819;1644283;1669056;1685840;1705644;1769561;2133845;2142936;2143244;2172730;2173791;5015404;5015619;5015861;5016478;5017227;5037552;5094930;5125972;7185938;7186344;7186447 D10S16;D11S3114;D7S1456;D7S2159E;D7S2490;D7S3303;D7S659;D7S715;D8S2279;G38154;GDB:434012;GDB:4585029;GDB:4585037;GDB:4585453;HIP1;HSC0XA062;L17705;RH12365;RH93047;SHGC-83394 HIP-1;HIP-I;MGC126506 ILWEQ;OTTHUMP00000209129;OTTHUMP00000209130;huntingtin-interacting protein 1;huntingtin-interacting protein I APPROVED protein-coding ENSG00000127946 HGNC:4913 03461 176807;601767 REVIEWED 733372 HIP1R huntingtin interacting protein 1 related ENCODES a protein that exhibits phosphatidylinositol binding; INVOLVED IN receptor-mediated endocytosis; ASSOCIATED WITH Melanoma (inferred); FOUND IN clathrin-coated vesicle; cytoplasm; intracellular membrane-bounded organelle; INTERACTS WITH arsenous acid; atrazine; cobalt dichloride 12 12 12 q24 443 13803 - 123319045 123347508 + 122834498 122862961 + 6480464;8554872 11063258;11889126;1189126;12477932;14702039;14732715;14742709;14760703;15090612;15533940;15581353;15588756;16415883;17318189;17452370;17928447;18165318;18187620;18790740;19255499;19738201;20379614;21139048;21189155;21292315;21890473;21906983;21987572;22505724;22623428;22939629;23000965;23383273;23862649;24312176;24816145;9734811;9852681 9026 B3KN98;B3KQW8;H0YH66;O75146 AB013384;AB014555;ABBA01060446;AC027290;AK024062;AK090537;AK295389;AK298387;AK307446;AK308538;AMYH02027440;AW962010;BC011354;BC038981;BC067085;CF454957;CH236948;CH471054;NM_003959;XM_005253627;XM_005253628;XM_006719683 AAH67085;BAA31630;BAA33713;BAG51260;BAG52180;BAG58343;BAG60622;EAW98346;EAW98347;NP_003950;O75146;XP_005253684;XP_005253685;XP_006719746 Hs.524815;Hs.714965 1688793;1694854 G44296;RH15622 FLJ14000;FLJ27022;HIP-12;HIP12;HIP3;KIAA0655;MGC47513 HIP1-related protein;ILWEQ;OTTHUMP00000239377;huntingtin interacting protein 12;huntingtin-interacting protein 1-related protein;huntingtin-interacting protein 12 protein-coding ENSG00000130787 HGNC:18415 10412 605613 VALIDATED 1319649 HIPK2 homeodomain interacting protein kinase 2 This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 7 7 7 q32-q34 133984493 134199751 - 139415730 139477693 - 139561570 139777894 - 1580863;6480464;6484113 10535925;10559189;11032752;11120354;11267674;11438542;11532197;11593421;11740489;11780126;11798164;11875057;11925430;12220523;12477932;12690205;12851404;12853948;12874272;12907596;14609633;14626429;14647468;14667819;14678985;14990717;15082531;15122315;15146197;15708980;15766567;15896780;15958389;16055500;16212962;16253240;16343438;16407227;16467083;16601678;16730941;16738336;16917507;17018294;17245128;17332358;17349959;17533375;17627287;17960875;18029348;18093972;18395248;18408760;18483253;18536714;18644116;18695000;18765672;18809579;18974774;18996371;19015637;19043406;19046997;19128456;19250734;19438900;19448668;19465479;19567674;19642869;19668373;19714248;19794125;19820693;19828042;19950553;20188669;20379614;20418953;20573984;20624637;20849851;20936779;20940704;20980392;21057547;21145359;21173028;21192925;21248071;21248371;21285352;21514416;21569099;21602882;21715331;21906983;21963094;21988832;22110707;22236966;22395153;22406746;22503103;22658722;22689412;23144866;23503458;23536002;23540226;23565059;23703384;23722549;23826318;23871434;24107646;24145406;24196445;24211575;24637324;8619474;9110174;9748262;9847074 28996 H7BXX9;Q9H2X6 ABBA01001194;ABBA01034050;ABBA01034051;ABBA01034052;AC005531;AC006021;AC073184;AC141932;AC144441;AC147553;AC232988;AF055019;AF111850;AF207702;AF208291;AF326592;AI580907;AK074291;AL833223;AMYH02016890;AMYH02016891;AMYH02016892;AMYH02016894;AUXG01000059;BC041926;BC043184;BC043652;BC045719;BX647377;CH236950;CH471070;CK818532;CN413736;CQ967477;CQ971737;NM_001113239;NM_022740;XM_006715934;XM_006715935;XM_006715936 AAF16689;AAG35710;AAG41236;AAI68360;AAL37371;AAS00368;CAI38625;CAI40576;EAL24035;EAW83925;EAW83926;EAW83927;EAW83928;EAW83929;NP_001106710;NP_073577;Q9H2X6;XP_006715997;XP_006715998;XP_006715999 Hs.731417 1643952;1657330;1663354;1664077;1679205;1684540;1773401;1790545;1846960;1853355;2111360;2120705;2131187;2136658;2136660;2155232;2156549;2157019;2166394;2167008;2168005;2169771;2178747;2179868 A005N45;A006W25;D4S3203;D7S1876E;D7S2098E;D7S2129E;D7S2142E;D7S2728;G20366;GDB:4585152;GDB:4585291;GDB:4585382;GDB:4585413;GDB:4585507;HSC188_(GAP_109_G);RH11956;RH12870;RH69335;RH75568;RH79233;RH93472;SHGC-36801;SHGC-37120;SHGC-5597 DKFZp686K02111;FLJ23711;PRO0593;hHIPk2 OTTHUMP00000212368;OTTHUMP00000212369;homeodomain-interacting protein kinase 2 APPROVED protein-coding ENSG00000064393 HGNC:14402 06039 606868 VALIDATED 1316795 HIPK4 homeodomain interacting protein kinase 4 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN histone phosphorylation (inferred); peptidyl-serine phosphorylation (inferred); protein autophosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); valproic acid (ortholog) 19 19 19 q13.2 37684720 37695637 - 40885178 40896094 - 40379271 40390187 - 1580863;6480464;8554872 12477932;14702039;15489334;18022393;22939624;23602568 147746 B4DWX2;Q8NE63 ABBA01040754;ABBA01040755;AC010271;AK057380;AK292228;AK301713;AK302301;AMYH02036110;AMYH02036111;AMYH02036112;BC034501;CH471126;CQ891383;HC007020;HC044799;NM_144685;XM_006723036 AAH34501;BAB71458;BAF84917;BAG63184;BAG63641;CAH68679;CBH19315;CBH30729;EAW56960;EAW56961;NP_653286;Q8NE63;XP_006723099 Hs.79363 1659249;1689121;5122351 6;RH93208;WI-22529 FLJ32818 homeodomain-interacting protein kinase 4 protein-coding ENSG00000160396 HGNC:19007 13652 611712 PROVISIONAL 8656847 HIPK1-AS1 HIPK1 antisense RNA 1 1 1 114466623 114471880 - 113924001 113929258 - 12477932 101928846 ABBA01068459;AL137856;AMYH02001778;AMYH02001779;BC036361;HG492462;HY108301;NR_110725;NR_110726;XR_246399;XR_246400;XR_248859;XR_248860;XR_250813;XR_250814 Hs.232534 ncrna ENSG00000235527 HGNC:50576 VALIDATED 7204960 HIRAP1 histone cell cycle regulator pseudogene 1 10 10 10 25687656 25688445 + 25980468 25981257 + 25691539 25692328 + 100422545 ABBA01034427;AC018509;AMYH02022490;NG_025478 1678847 RH92888 APPROVED pseudo HGNC:44916 INFERRED 731500 HIPK3 homeodomain interacting protein kinase 3 ENCODES a protein that exhibits protein kinase activity; protein serine/threonine kinase activity; INVOLVED IN mRNA transcription; negative regulation of apoptotic process; protein phosphorylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene 11 11 11 p13 33425771 33522554 + 33274406 33378569 + 33256672 33357023 + 6480464;8554872 10640736;10640824;10737800;10919273;10961991;11034606;12477932;14766760;15231748;15592455;16000324;16554811;17210646;18029348;20347265;20677014;20936779;21906983;21963094;23602568;24489884;9373137;9725910;9748262 10114 A8KAE4;E9PKD7;Q9H422 AA456456;ABBA01060890;ABBA01060891;ABBA01060892;AF004849;AF305239;AK293009;AK304063;AK315277;AL122015;AL136126;AL597397;AMYH02024566;AW819916;AY425958;BC030112;BF332205;BX117467;CH471064;DR000092;HY053621;KF455370;NM_001048200;NM_001278162;NM_001278163;NM_005734;XM_005252729;XM_006718120;Y09306 AAC64294;AAG25990;AAI46312;AAI56874;AAR07951;BAF85698;BAG64970;CAA70489;EAW68198;EAW68199;NP_001041665;NP_001265091;NP_001265092;NP_005725;Q9H422;XP_005252786;XP_006718183 Hs.201918;Hs.709696 1338948;1653691;1688690;1716049;1723457;1734022;1770980;1779218;2116837;2185795;2191185;2219796 D11S2165;D11S2229E;D11S4101;D11S4548;G16978;HIPK3__6530;MARC_16007-16008:1017070197:5;RH118547;RH120963;RH98961;SHGC-152852;STS-L37773 ANPK;DYRK6;FIST;FIST3;PKY;YAK1 OTTHUMP00000163106;OTTHUMP00000163107;OTTHUMP00000232315;androgen receptor-interacting nuclear protein kinase;fas-interacting serine/threonine-protein kinase;homeodomain-interacting protein kinase 3;homolog of protein kinase YAK1 protein-coding ENSG00000110422 HGNC:4915 05111 604424 VALIDATED 1346310 HIRA histone cell cycle regulator This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 3170348 3271476 - 19318221 19419247 - 19330701 19431696 - 1580863;6480464;9068945 23288364 11238922;11342215;12477932;14718166;15231747;15461802;15489334;15561718;15621527;16024922;16980972;17242198;17242207;18378699;19029251;19046189;19322201;19913121;20211137;20628086;21347226;21414300;21724829;21807893;21890473;21906983;22195966;22401310;22885324;23222847;23602572;24074863;24209620;24816145;25011449;7633437;8111380;8681138;8995764;9710638;9731536 7290 H7C2A7;P54198 ABBA01005412;ABBA01005413;ABBA01005414;ABBA01005415;ABBA01005416;ABBA01005417;ABBA01005418;ABBA01005419;AC000079;AC000085;AC000092;AK289809;AK299950;AK302835;AK308642;AMYH02038039;AMYH02038040;AMYH02038041;BC032721;BC039835;CH471176;CR456503;KF457353;KF457354;NG_009231;NM_003325;X75296;X77633;X81844;X89887;X91501 AAH32721;AAH39835;BAF82498;BAG61778;BAH13816;CAA53044;CAA54721;CAA57436;CAA61979;CAA62800;CAG30389;CAK54532;CAK54831;EAX03043;EAX03044;NP_003316;P54198 Hs.474206 1335637;1676276;1693658;1732065;1732073;1734292;1734294;1739445;1744169;1776745;1851058;2112428;2112448;2112454;2112462;2112466;2112470;2112472;2171926;5022608 D22S1039;D22S1095E;D22S1606;D22S1615;D22S1620;D22S1645;D22S1648;D22S1655;D22S1658;D22S446;D22S447;D22S451;D22S609;D22S941;D22S942;GDB:434686;RH27840;RH77784;SHGC-58589;STS-X89887 DGCR1;TUP1;TUPLE1 DiGeorge critical region gene 1;HIR histone cell cycle regulation defective homolog A;OTTHUMP00000196395;OTTHUMP00000196396;TUP1-like enhancer of split protein 1 APPROVED protein-coding ENSG00000100084 HGNC:4916 02583 600237 REVIEWED 1315096 HIRIP3 HIRA interacting protein 3 The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this gene binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Aug 2011] 16 16 16 p11.2 72788309 72791410 + 30003642 30007417 - 29992321 29996096 - 1580863;6480464;8554872 12477932;15302935;15489334;16083285;16169070;16344560;16751776;16964243;17081983;17391060;19242545;21565611;21832049;22113938;22863883;23455922;23602568;24250222;24816145;7757816;8889548;9710638 8479 Q9BW71 ABBA01013110;AC093512;AC243947;AJ223349;AJ223350;AJ223351;AK075145;AK312504;BC000588;BE207110;BM673568;BU629222;BU730222;BX101682;CH471238;DA716463;DA784706;NM_001197323;NM_003609;Z25386 AAH00588;ADZ15698;BAG35406;BAG52072;CAA11273;CAA11274;CAA11275;EAW79960;EAW79961;NP_001184252;NP_003600;Q9BW71 Hs.567370 1679379;1687223;1736570 D16S2561E;RH25926;RH99036 HIRA-interacting protein 3;OTTHUMP00000162998 APPROVED protein-coding ENSG00000149929 HGNC:4917 04531 603365 REVIEWED 1313894 HIST1H1A histone cluster 1, H1a Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27244484 27245264 - 26017260 26018040 - 26017032 26017812 - 1580863;6480464 10022855;10198259;10362260;10393546;10447003;10523312;10893414;11060286;11063125;11130728;11132966;11266453;11467742;11687586;11836499;11940657;12056906;12408966;12477932;12686141;12963725;13678583;14595808;14597612;14985337;14985713;14993289;15064750;15205535;15308690;15456770;15489334;15583032;15595731;15911621;15927069;15998794;16314418;16431907;16622419;16696975;16962592;17048991;17214964;17254966;17293600;17371838;17431037;17620599;18667424;19596686;19631451;19882353;19895577;1989977;20064938;20356835;20431927;20551309;20639865;20800603;20923784;20974803;21044950;21088490;21139048;21241890;21282530;21357687;21425800;21890473;21906983;21940793;21963094;22053931;22158041;22178446;22505724;22586326;23000965;23455924;23463506;23776205;23933584;25015289;2759094;7499230;7629134;7790358;7989039;8003976;8325638;8393783;8397206;8397207;8463339;8537403;8565853;8606778;8641969;8647086;8692842;8814229;8867812;9053846;9119399;9149941;9178893;9199321;9247342;9325046;9380407;9380698;9464540;9546435;9632134;9760185;9840927;9860976;9885575;9886493 3024 Q02539 ABBA01066552;AF531299;AMYH02013346;BC069492;BC101593;BC112140;CH471087;NM_005325;U91328;X57130 AAH69492;AAI01594;AAI12141;AAN06699;ABZ92487;CAA40409;EAW55507;NP_005316;Q02539 Hs.150206 1773925;1794540;2147090;5492589;5493503 PMC316937P2;RH46871;STS-Z46261;UniSTS:481727;UniSTS:486945 H1.1;H1A;H1F1;HIST1;MGC126642;MGC138345 H1 histone family, member 1;OTTHUMP00000018038;histone 1, H1a;histone H1.1;histone H1a APPROVED protein-coding ENSG00000124610 HGNC:4715 00820 142709 REVIEWED 1343160 HIST1H1C histone cluster 1, H1c Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27285199 27285983 - 26055968 26056699 - 26055740 26056471 - 1580863;6480464;8554872 10893414;10997781;11467742;11746507;12408966;12477932;15009096;15489334;15595731;15635413;15848144;15911621;15927069;16169070;16196087;16431907;16854430;17081983;17361185;17370265;17620599;17879944;18258596;18568448;18781797;19135240;19471022;19596686;20431927;20587610;20618440;20639865;20800603;21081666;21110914;21113133;21139048;21145461;21252943;21425800;21693764;21825151;21890473;21903422;21906983;21907836;21963094;21987572;21988832;22053931;22178446;22234250;22249259;22505724;22623428;22863883;22939629;23000965;23151878;23184937;23319141;23329831;23443559;23455922;23463506;23862649;24244333;24337577;24360965;24435047;24457600;24476918;24583282;24654937;24816145;24873882;25015289;2613692;2759094;8003976;8055927;8325638;9439656 3006 P16403 AB451259;AB451385;ABBA01066552;AF531300;AK290947;AMYH02013346;BC002649;CH471087;NM_005319;U91328;X57129 AAN06700;ABZ92489;ACE86751;ACE87439;BAF83636;BAG70073;BAG70199;CAA40408;EAW55515;NP_005310;P16403 Hs.7644 2141175;5126637;5492300 Hist1h1e;RH67930;WI-11794 H1.2;H1C;H1F2;H1s-1;MGC3992 H1 histone family, member 2;OTTHUMP00000017749;histone 1, H1c;histone H1.2;histone H1c;histone H1d;histone H1s-1 APPROVED protein-coding ENSG00000187837 HGNC:4716 07514 142710 REVIEWED 1351111 HIST1H1B histone cluster 1, H1b Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29440606 29441461 - 27834570 27835359 - 27866792 27867581 - 1580863;6480464;8554872 10373431;10997781;11259605;11266453;11467742;11516829;11581402;11746507;11839738;11980914;12408966;12477932;12686141;14574404;14612406;14681231;14701826;15169570;15469825;15489334;15514162;15595731;15607961;15635413;15670215;15753125;15800615;15856011;15911621;15927069;15978696;16120603;16185066;16191191;16205633;16216881;16377619;16627785;16762841;17081983;17403666;17540172;17671428;17699765;18560763;19136008;19318554;19596686;19738201;19882353;20639865;20800603;20956543;21110914;21113133;21282530;21425800;21654845;21890473;21906983;21963094;22053931;22145905;22178446;22505724;22623428;22863883;23000965;23319141;23416030;23543736;24435047;24583282;24654937;24657165;24690621;24816145;24842996;25015289;2569363;2613692;2829131;3182772;3782055;6719136;7629134;8003976;8325638;8662825;8663071;9031620;9119399;9439656;9668078;9873047 3009 P16401;Q14463 ABBA01038011;AF531304;AMYH02013389;BC069101;BC101581;BC101583;CH471081;K02570;M23203;NM_005322;X06757;X83509;Z98744 AAA35943;AAH69101;AAI01582;AAI01584;AAN06704;ABZ92488;CAA29930;CAA58498;EAX03119;NP_005313;P16401 Hs.131956 1773753;5492449;5493015 RH71295;UniSTS:481111;UniSTS:483747 H1;H1.5;H1B;H1F5;H1s-3;MGC126630;MGC126632 H1 histone family, member 5;OTTHUMP00000017748;histone 1, H1b;histone H1.5;histone H1a;histone H1b;histone H1s-3 APPROVED protein-coding ENSG00000184357 HGNC:4719 00821 142711 REVIEWED 1343145 HIST1H1D histone cluster 1, H1d Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27463747 27464523 - 26234440 26235216 - 26234212 26234988 - 1580863;6480464;8554872 10997781;11467742;11478838;11691934;11746507;12408966;12477932;12777385;14574404;15489334;15595731;15635413;15911621;15927069;17081983;17361185;18391950;18457437;18850315;1916825;19266077;19343178;19596686;19738201;19882353;19893584;20020773;20085233;20618440;20639865;20685720;2071153;20846217;21110914;21131960;21139048;21425800;21890473;21906983;21907836;21963094;21987572;22053931;22145905;22178446;22268729;22505724;22586326;22623428;22797925;23000965;23463506;24435047;24457600;24690621;24816145;25027693;2613692;8003976;8325638;9119399;9439656 3007 P16402 ABBA01066554;AF531303;AK312845;AL031777;AMYH02013350;BC104874;BC111971;CH471087;M60747;NM_005320 AAA63186;AAI04875;AAI11972;AAN06703;ABZ92490;BAG35698;EAW55548;NP_005311;P16402 Hs.136857 1676077;1791494;5492579;5492907 PMC111054P3;RH79903;UniSTS:481723;UniSTS:483214 H1.3;H1D;H1F3;H1s-2;MGC138176 H1 histone family, member 3;OTTHUMP00000016148;histone 1, H1d;histone H1.3;histone H1c;histone H1s-2 APPROVED protein-coding ENSG00000124575 HGNC:4717 06764 142210 REVIEWED 1345558 HIST1H1E histone cluster 1, H1e Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27385861 27386645 + 26156559 26157343 + 26156331 26157115 + 1580863;6480464 10997781;11467742;11746507;12408966;12477932;12498347;14574404;15469825;15489334;15595731;15635413;15911621;15927069;16127177;17081983;17474147;17540172;18314153;19135240;19144645;1916825;19596686;20639865;20800603;21139048;21252943;21425800;21852232;21890473;21906983;21907836;21963094;21987572;22053931;22178446;22425985;22465951;22505724;22514736;22586326;22751105;22863883;22939629;23000965;23151878;23319141;23398456;23463506;24435047;24457600;24816145;24873882;25015289;3782055;7607502;8003976;8325638;9119399;9439656 3008 A3R0T8;P10412 ABBA01066553;AF531302;AK313681;AL353759;AMYH02013347;BC096168;BC096169;BC096170;BC099632;CH471087;EF065554;EF065555;M60748;NM_005321 AAA63187;AAH96168;AAH96169;AAH96170;AAH99632;AAN06702;ABN72276;ABN72277;BAG36431;EAW55534;NP_005312;P10412 Hs.248133 1734016;2159120;5492809 D12S1124;RH69154;UniSTS:482713 H1.4;H1E;H1F4;H1s-4;MGC116819;dJ221C16.5 H1 histone family, member 4;OTTHUMP00000016139;histone 1, H1e;histone H1.4;histone H1b;histone H1s-4 APPROVED protein-coding ENSG00000168298 HGNC:4718 07513 142220 REVIEWED 1348498 HIST1H1PS1 histone cluster 1, H1, pseudogene 1 6 6 p22.1 26195794 26195999 + 26195566 26195771 + 387325 ABBA01066554;AL031777;AMYH02013349;NG_029660 FLJ39701;H1F6P;dJ34B20.16 APPROVED pseudo HGNC:19163 INFERRED 1346974 HIST1H1PS2 histone cluster 1, H1, pseudogene 2 6 6 6 p21.3 27243559 27244293 + 26016335 26017069 + 26016107 26016841 + 20966902;9031620;9119399 10338 ABBA01066552;AMYH02013346;NG_029342;U91328;X67080 H3FEP;pH3/e pseudo HGNC:4770 INFERRED 1349225 HIST1H2AA histone cluster 1, H2aa Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Jul 2008] 6 6 6 p22.2 26953503 26954002 - 25726291 25726790 - 25726063 25726562 - 1580863;6480464;6907045 11080476;11689053;12408966;12477932;14574404;14657027;15010469;15078818;15386022;15489334;15823041;16359901;16702407;17207965;18247557;18781797;19738201;20431927;20639865;20972266;21139048;21858012;21890473;21906983;21963094;21987572;22053931;22178446;22505724;22939629;23000965;23084401;24244333;9566873 221613 Q96QV6 ABBA01066548;AL512384;AMYH02013341;AY131982;BC062211;CH471087;NM_170745 AAH62211;AAN59963;ADQ32036;EAW55489;NP_734466;Q96QV6 Hs.406739 2106493;2220408 HIST1H2BA__6542;UniSTS:481642 H2AA;H2AFR;bA317E16.2 H2A histone family, member R;OTTHUMP00000016122;histone 1, H2aa;histone H2A type 1-A;histone H2A/r APPROVED protein-coding HGNC:18729 13653 613499 REVIEWED 1345991 HIST1H2AB histone cluster 1, H2ab Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27260544 27261020 - 26033320 26033796 - 26033092 26033568 - 1580863;6480464;6907045 11003660;11080476;11689053;11830591;11884585;12408966;12477932;14657027;14993289;15010469;15078818;15386022;15635413;15823041;16359901;16457589;16702407;18247557;18781797;19199708;19596686;19847302;20080577;20379614;20639865;21110914;21145461;21282530;22505724;22623428;22810585;22863883;23329831;24013421;24457600;24530302;24816145;25131202;6647026;9119399;9149941;9439656;9566873 8335 P04908;Q08AJ9 ABBA01066552;AK311785;AMYH02013346;AY131983;BC125140;CH471087;NM_003513;U91328;X00089;Z83741 AAI25141;AAI66650;AAN59964;BAG34728;CAA24951;CAB06036;EAW55512;NP_003504;P04908 Hs.248174 1648766;2183514;2220410;2220628 STS-X00089;STS-Z83741;UniSTS:481651;UniSTS:486359 H2A/m;H2AFM;HIST1H2AE H2A histone family, member M;OTTHUMP00000016137;histone 1, H2ab;histone H2A type 1-B/E;histone H2A.2;histone H2A/a;histone H2A/m APPROVED protein-coding ENSG00000278463 HGNC:4734 09105 602795 REVIEWED 737047 HIST1H1T histone cluster 1, H1t Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27336922 27337646 - 26107640 26108364 - 26107412 26108136 - 1580863;6480464 10529182;12408966;12477932;15489334;15927069;17081983;1889752;19820698;20139978;20587610;20618440;20639865;21110914;21139048;21151833;21890473;21906983;21909110;21963094;22053931;22178446;22505724;23000965;24690621;24816145;8175896;8325638;9119399;9149941;9765591;9809674 3010 P22492 ABBA01066552;AF531301;AMYH02013347;BC069517;BC130350;CH471087;M60094;M97755;NM_005323;U91328 AAA19936;AAA35944;AAH69517;AAI30351;AAN06701;ABZ92491;ADR82850;EAW55529;NP_005314;P22492 Hs.533293 1652290;1663934;5492391;5492807;5493781 RH71393;STS-M60094;UniSTS:480904;UniSTS:482714;UniSTS:494823 H1FT;H1t;MGC163222;dJ221C16.2 H1 histone family, member T (testis-specific);OTTHUMP00000016147;histone 1, H1t;histone H1t;testicular H1 histone APPROVED protein-coding ENSG00000187475 HGNC:4720 00822 142712 REVIEWED 1342566 HIST1H2AD histone cluster 1, H2ad Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27428315 27428774 - 26199012 26199521 - 26198784 26199293 - 1580863;6480464;6907045 10384058;11080476;11689053;12408966;12477932;14657027;15009096;16457589;18247557;19738201;20639865;20881960;20972266;21139048;21890473;21906983;21963094;21987572;22053931;22118674;22505724;22810585;22939629;23000965;23084401;23563607;9119399;9439656;9566873 3013 B2R5B6;P20671 ABBA01066554;AK312127;AL031777;AMYH02013349;AY131985;BC093807;BC093809;BC128035;CH471087;CR541970;CR541999;NM_021065;Z80776 AAH93807;AAH93809;AAI28036;AAN59966;ABZ92492;BAG35063;CAB02538;CAG46768;CAG46796;EAW55542;NP_066409;P20671 Hs.626666;Hs.679229 2138536;2165222;2220458;2220600 RH66549;RH77901;UniSTS:482908;UniSTS:485722 H2A.3;H2A/g;H2AFG;HIST1H3D H2A histone family, member G;OTTHUMP00000016153;histone 1, H2ad;histone H2A type 1-D;histone H2A.3;histone H2A/g;histone H2AD APPROVED protein-coding HGNC:4729 07534 602792 REVIEWED 1345959 HIST1H2AC histone cluster 1, H2ac Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27353637 27354182 + 26124370 26139337 + 26124145 26124690 + 1580863;6480464;6907045 11080476;11689053;12408966;12477932;14657027;15010469;15078818;15386022;15489334;15576338;15635413;15823041;16169070;16319397;16359901;16457589;16702407;20085707;20639865;20972266;21139048;21890473;21906983;21963094;21987572;22053931;22505724;22623428;22810585;23000965;24816145;25015289;9119399;9149941;9439656;9566873 8334 Q93077 ABBA01066552;AK311811;AL353759;AMYH02013347;AY131984;BC017379;BC050602;BC085010;CH471087;NM_003512;U90551;U91328;Z80778 AAB53429;AAB82086;AAN59965;BAG34754;CAB02540;EAW55532;EAW55533;NP_003503;Q93077 Hs.484950 1670417;1847379;1849932;2115653;2122311;2169970;2220636 A006T34;A008J29;D6S2133;RH46705;RH46761;STS-H58932;UniSTS:486876 H2A/l;H2AFL;MGC99519;dJ221C16.4 H2A histone family, member L;OTTHUMP00000016145;histone 1, H2ac;histone H2A type 1-C;histone H2A/l;histone H2AC APPROVED protein-coding HGNC:4733 09104 602794 REVIEWED 1344301 HIST1H2AG histone cluster 1, H2ag Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 28706816 28709070 + 27100817 27101314 + 27133038 27133535 + 6480464;6907045 10064132;10384058;11080476;11689053;11799066;12408966;12477932;14657027;15161933;16457589;17342744;17620599;17980597;19571809;19596686;21145461;22118674;22505724;22623428;22810585;22863883;23319141;8179821;9439656;9566873 8969 A4FTV9;B2R5B3;P0C0S8 ABBA01037988;AK312124;AL021807;AMYH02013375;AY131987;BC016677;BC067782;CH471081;L19778;NM_021064 AAC24466;AAH16677;AAN59968;ABM81950;ABM85130;ABM85212;BAG35060;EAX03083;NP_066408;P0C0S8 Hs.51011 1646822;1685307;1792760;1794538;5014051;5037552 D8S2278;D8S2279;PMC162237P1;PMC316937P1;RH91410;SGC35270 H2A.1;H2A.1b;H2A/p;H2AFP;H2AG;HIST1H2AI;HIST1H2AK;HIST1H2AL;HIST1H2AM;pH2A/f H2A histone family, member P;OTTHUMP00000016174;histone 1, H2ag;histone H2A type 1;histone H2A/p APPROVED protein-coding HGNC:4737 13654 615012 REVIEWED 1353821 HIST1H2AE histone cluster 1, H2ae Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27446451 27447014 + 26217148 26217711 + 26216920 26217483 + 1580863;6480464;6907045;8554872 11080476;11689053;11709551;11964378;12408966;12477932;14574404;14657027;14993289;15010469;15078818;15386022;15489334;15823041;16196087;16319397;16359901;16457589;16702407;17267499;18247557;18781797;1916825;19199708;19596686;20639865;20972266;21110914;21113133;21139048;21145461;21890473;21906983;21963094;21987572;22053931;22505724;22623428;23000965;24457600;24654937;24690621;24816145;6647026;9119399;9325046;9439656;9566873 3012 P04908;Q08AJ9 ABBA01066554;AL031777;AMYH02013350;AY131986;BC093836;BC093862;CH471087;M60752;NM_021052 AAA63191;AAH93836;AAH93862;AAN59967;ABZ92493;EAW55546;NP_066390;P04908 Hs.121017 1700132;1858381;2220476;2220516 RH103679;RH69155;UniSTS:483215;UniSTS:483862 H2A.1;H2A.2;H2A/a;H2AFA;HIST1H2AB H2A histone family, member A;OTTHUMP00000016155;histone 1, H2ae;histone H2A type 1-B/E;histone H2A.2;histone H2A/a;histone H2A/m;histone H2AE APPROVED protein-coding HGNC:4724 04152 602786 REVIEWED 1342935 HIST1H2AJ histone cluster 1, H2aj Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29388118 29388556 - 27782080 27782518 - 27814302 27814740 - 6480464;6907045 10064132;11080476;11689053;11790298;12408966;12477932;14657027;17207965;19471022;20639865;20972266;21139048;21145461;21890473;21906983;21963094;21987572;22053931;22505724;22810585;23000965;8814229;9439656;9566873 8331 Q99878 ABBA01038011;AL049822;AMYH02013389;AY131990;BC066232;BC066233;BC066234;BC066235;BC066236;BC066237;BC133048;BC133050;CH471081;NM_021066;Z83736 AAH66232;AAH66233;AAH66234;AAH66235;AAH66236;AAH66237;AAI33049;AAI33051;AAN59971;ADQ31933;CAB06031;EAX03109;NP_066544 Hs.406691 2108141;2220412;2220420 HIST1H2BM_8793;UniSTS:481657;UniSTS:481732 H2A/E;H2AFE;dJ160A22.4 H2A histone family, member E;OTTHUMP00000016185;histone 1, H2aj APPROVED protein-coding ENSG00000276368 HGNC:4727 09102 602791 REVIEWED 1346479 HIST1H2AI histone cluster 1, H2ai Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29382015 29382483 + 27775977 27776445 + 27808199 27808667 + 6480464;6907045 10064132;11080476;11689053;12408966;12477932;14657027;19850743;20639865;20972266;21139048;21145461;21890473;21906983;21963094;21987572;22053931;22118674;22505724;23000965;9439656;9566873 8329 A4FTV9;P0C0S8 ABBA01038011;AK311766;AL009179;AMYH02013388;AY131989;BC112254;BC112256;CH471081;NM_003509;Z83742 AAI12255;AAI12257;AAN59970;ABZ92494;BAG34709;CAB06037;EAX03107;NP_003500;P0C0S8 Hs.534035 2219798;2220370;2220676 HIST1H2BL__6546;UniSTS:480831;UniSTS:490240 FLJ92027;H2A.1;H2A/c;H2AFC;HIST1H2AG;HIST1H2AK;HIST1H2AL;HIST1H2AM H2A histone family, member C;OTTHUMP00000016183;histone 1, H2ai;histone H2A type 1;histone H2A/p APPROVED protein-coding ENSG00000196747 HGNC:4725 04153 602787 REVIEWED 1349795 HIST1H2AH histone cluster 1, H2ah Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Jul 2008] 6 6 6 p21.33 28720909 28721395 + 27114861 27115341 + 27147082 27147562 + 1580863;6480464;6907045 10064132;10384058;11080476;11689053;12408966;12477932;14574404;14657027;15010469;15078818;15386022;15489334;15823041;16319397;16359901;16702407;17074886;20639865;20972266;21139048;21319273;21853274;21890473;21906983;21963094;21987572;22053931;22118674;22505724;22810585;23000965;24654937;9566873 85235 A3KPC7;Q96KK5 ABBA01037988;AK312232;AL021807;AMYH02013376;AY131988;BC093849;BC093851;BC134366;BC148293;CH471081;NM_080596 AAH93849;AAH93851;AAI34367;AAI41470;AAI48294;AAN59969;BAG35165;EAX03087;NP_542163;Q96KK5 Hs.352225 2110449;2112344;2220360;2220456;2220482 D6S2252;HIST1H2AH__7487;UniSTS:480645;UniSTS:482788;UniSTS:483466 H2A/S;H2AFALii;H2AH;MGC171151;dJ86C11.1 H2A histone family member;OTTHUMP00000016173;histone 1, h2ah;histone H2A type 1-H;histone H2A/s APPROVED protein-coding ENSG00000274997 HGNC:13671 13655 615013 REVIEWED 1319217 HIST1H2AL histone cluster 1, H2al Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29439143 29439612 + 27833107 27833576 + 27865329 27865798 + 6480464;6907045 10022855;10064132;11080476;11689053;12408966;12477932;12489984;14657027;17207965;1989977;21044950;21145461;22118674;22505724;9031620;9439656;9566873;9651585 8332 A4FTV9;P0C0S8 ABBA01038011;AMYH02013389;AY131992;BC069306;BC112072;CH471081;NM_003511;X83549;Z98744 AAH69306;AAI12073;AAN59973;ADQ32946;CAA58539;EAX03118;NP_003502;P0C0S8 Hs.233568 2220368;5492963 UniSTS:480830;UniSTS:483440 H2A.1;H2A.i;H2A/i;H2AFI;HIST1H2AG;HIST1H2AI;HIST1H2AK;HIST1H2AM;dJ193B12.9 H2A histone family, member I;OTTHUMP00000016189;histone 1, H2al;histone 1, H2am;histone H2A type 1;histone H2A/p APPROVED protein-coding ENSG00000276903 HGNC:4730 09103 602793 REVIEWED 1312612 HIST1H2AK histone cluster 1, H2ak Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29411662 29412160 - 27805658 27806117 - 27837880 27838339 - 1580863;6480464;6907045 10064132;11080476;11689053;12408966;12477932;14574404;14657027;15010469;15078818;15386022;15489334;15635413;15823041;16319397;16359901;16457589;16702407;20618440;21145461;22118674;22505724;9439656;9566873 8330 A4FTV9;P0C0S8 ABBA01038011;AK311941;AMYH02013389;AY131991;BC034487;BC104198;BC104199;CH471081;NM_003510;Z83739;Z98744 AAH34487;AAI04199;AAI04200;AAN59972;BAG34882;CAB06034;EAX03113;NP_003501;P0C0S8;Q99878 Hs.734717 2141524;2220648;2220668 AL021849;UniSTS:487023;UniSTS:489748 H2A.1;H2A/d;H2AFD;HIST1H2AG;HIST1H2AJ;HIST1H2AL;HIST1H2AM H2A histone family, member D;OTTHUMP00000018006;histone 1, H2ak;histone H2A type 1;histone H2A type 1-J;histone H2A/e;histone H2A/p APPROVED protein-coding ENSG00000275221 HGNC:4726 09100 602788 REVIEWED 1343258 HIST1H2APS1 histone cluster 1, H2a, pseudogene 1 6 6 p22.2 25732661 25733089 + 25732433 25732861 + 387319 ABBA01066548;AL512384;AMYH02013341;DB441866;NR_045125 Hs.741681 H2AFSP;bA317E16.5 APPROVED pseudo HGNC:18720 PROVISIONAL 1344934 HIST1H2APS2 histone cluster 1, H2a, pseudogene 2 6 6 6 p22 27109346 27109836 - 25882154 25882644 - 25881926 25882416 - 10384058 85303 ABBA01066551;AF098457;AL138726;AMYH02013343;NG_002685 1853524;2189683 D6S2236;D6S2384 H2A/T;H2AFTP;dJ139G21.2 histone 1, h2a, pseudogene 2 pseudo HGNC:18804 INFERRED 1348318 HIST1H2APS3 histone cluster 1, H2a, pseudogene 3 6 6 p22.1 26233350 26233483 + 26233122 26233255 + 18391950;18391951;19343178 387323 ABBA01066554;AL031777;AMYH02013350;NG_029661 H2AFUP;dJ34B20.8 APPROVED pseudo HGNC:18805 INFERRED 1348354 HIST1H2APS4 histone cluster 1, H2a, pseudogene 4 6 6 6 p21.3 27501728 27502075 - 26272421 26272768 - 26272193 26272540 - 21139048;9119399 8333 Q92646 ABBA01066554;AL031777;AMYH02013350;NG_000876;Z80777 CAB02539 2108139;2150883;2220416;2220480 HIST1H2BI_8797;RH47051;UniSTS:481665;UniSTS:483442 H2A/k;H2AFK;H2AFKP;dJ34B20.2;pH2A/k histone 1, h2a, pseudogene 4 pseudo HGNC:4732 INFERRED 1344950 HIST1H2APS5 histone cluster 1, H2a, pseudogene 5 6 6 6 p21.3 27273410 27274060 + 26044128 26044778 + 26043900 26044550 + 8227173 10341 ABBA01066552;AMYH02013346;NG_029344;U91328;X57131 1677953;2220392 RH80237;UniSTS:481137 H2AFFP;pH2A/f pseudo HGNC:4728 INFERRED 1323073 HIST1H2AM histone cluster 1, H2am Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29466508 29466994 - 27860477 27860963 - 27892699 27893185 - 6480464;6907045 10064132;11080476;11689053;11709551;12408966;12477932;14574404;14657027;15010469;15078818;15386022;15489334;15823041;16226712;16319397;16359901;16457589;16702407;1768865;21145461;22118674;22505724;22751105;7410338;8179821;9439656;9566873 8336 A4FTV9;P0C0S8 ABBA01038011;AMYH02013390;AY131993;BC032756;CH471081;NM_003514;X57138;Z98744 AAN59974;ABM82113;ABM85296;ADR82801;CAA40417;EAX03123;NP_003505;P0C0S8 Hs.134999 2175853;2220460 RH36055;UniSTS:482909 H2A.1;H2A/n;H2AFN;HIST1H2AG;HIST1H2AI;HIST1H2AK;HIST1H2AL;dJ193B12.1 H2A histone family, member N;OTTHUMP00000016191;histone 1, H2am;histone H2A type 1;histone H2A/p APPROVED protein-coding ENSG00000278677 HGNC:4735 09106 602796 REVIEWED 5487908 HIST1H2APS6 HIST1H2A pseudogene 6 INTERACTS WITH (+)-catechin 13 13 q13.3 37064187 37064578 - 36490050 36490441 - 11181995 100509927 ABBA01021357;AL159980;AMYH02027867;CH471075;NG_029174 EAX08567 APPROVED pseudo HGNC:42647 INFERRED 1352004 HIST1H2BA histone cluster 1, H2ba Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a testis/sperm-specific member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Jul 2008] 6 6 6 p22.2 26954349 26954785 + 25727137 25727573 + 25726909 25727345 + 1580863;6480464;6907045 11080476;11689053;12213818;12408966;12477932;12786946;14574404;14657027;15489334;15709765;16283522;16307923;16713563;16916647;18247557;19358706;20525793;20639865;21139048;21282530;21832049;21890473;21906983;21963094;21987572;22053931;22178446;22467210;22505724;22939629;23000965;23463506;23884607;24457600;24614311;24699735;25015289;8565853;8598932;9566873 255626 Q96A08 ABBA01066548;AF397301;AF531284;AK312055;AL512384;AMYH02013341;BC066238;BC066239;BC066240;BC066241;BC066242;BC066243;CH471087;NM_170610 AAH66238;AAH66239;AAH66240;AAH66241;AAH66242;AAH66243;AAK84040;AAN06684;BAG34991;EAW55490;NP_733759;Q96A08 Hs.591786 2106493;2220408 HIST1H2BA__6542;UniSTS:481642 H2BFU;STBP;TSH2B;TSH2B.1;bA317E16.3 H2B histone family, member U, (testis-specific);OTTHUMP00000016123;histone 1, H2ba;histone H2B type 1-A;histone H2B, testis;testis-specific histone H2B APPROVED protein-coding ENSG00000146047 HGNC:18730 11024 609904 REVIEWED 1343461 HIST1H2BB histone cluster 1, H2bb Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27272737 27273167 - 26043455 26043885 - 26043227 26043657 - 1580863;6480464;6907045 10644696;11003660;11080476;11689053;11709551;11830591;11884585;11964378;12408966;12477932;12757711;14657027;14993289;15489334;16283522;16307923;16319397;16713563;16916647;17361185;18247557;18781797;1916825;19666485;20080577;20431927;20639865;21110914;21139048;21282530;21362548;21832049;21890473;21906983;21963094;21987572;22053931;22174317;22178446;22505724;22939629;23000965;23463506;24013421;24457600;24530302;24816145;25015289;8227173;9119399;9149941;9439656;9566873 3018 P33778 ABBA01066552;AF531285;AMYH02013346;BC096728;CH471087;NM_021062;U91328;X57127 AAH96728;AAN06685;ABZ92495;CAA40406;EAW55513;NP_066406;P33778 Hs.553494 1677953;2220392 RH80237;UniSTS:481137 H2B.1;H2B/f;H2BFF;MGC119804 H2B histone family, member F;OTTHUMP00000016138;histone 1, H2bb;histone H2B type 1-B;histone H2B.1;histone H2B.f APPROVED protein-coding ENSG00000276410 HGNC:4751 07536 602803 REVIEWED 1344863 HIST1H2BC histone cluster 1, H2bc Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27352959 27353396 - 26113389 26124266 - 26123467 26123904 - 6480464;6907045 11080476;11689053;12408966;12477932;12860195;14657027;16307923;16522924;17353931;18404153;19343720;19414484;21907836;22082156;22174317;22505724;22623428;23084401;24816145;422550;9119399;9149941;9439656;9566873 8347 B2R4S9;P62807 ABBA01066552;AF531286;AMYH02013347;BC009612;BC105595;BC106899;CH471087;NM_003526;U91328;Z80783 AAI05596;AAI06900;AAI60109;AAN06686;CAB02545;EAW55530;EAW55531;NP_003517;P62807 Hs.658713;Hs.726509 1670417;2169970;2220636 A008J29;RH46761;UniSTS:486876 H2B.1;H2B/a;H2B/g;H2B/h;H2B/k;H2B/l;H2BFL;HIST1H2BE;HIST1H2BF;HIST1H2BG;HIST1H2BI;MGC104246;dJ221C16.3 H2B histone family, member L;OTTHUMP00000016141;histone 1, H2bc;histone H2B type 1-C/E/F/G/I;histone H2B.1 A;histone H2B.a;histone H2B.g;histone H2B.h;histone H2B.k;histone H2B.l APPROVED protein-coding HGNC:4757 13656 602847 REVIEWED 1316135 HIST1H2BD histone cluster 1, H2bd Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Two transcripts that encode the same protein have been identified for this gene, which is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27387650 27400878 + 26157419 26171577 + 26157843 26171349 + 1580863;6480464;6907045 11080476;11689053;12408966;12477932;12757711;14574404;14657027;15489334;15635413;15852347;16283522;16307923;16319397;16457587;16627869;16713563;16916647;1916825;20618440;20639865;21139048;21693764;21890473;21906983;21907836;21963094;21987572;22053931;22174317;22178446;22505724;22623428;23000965;23254330;23463506;24457600;24816145;9119399;9439656;9566873;9710638 3017 P58876;P62807 ABBA01066553;ABBA01066554;AF531287;AJ223353;AK292712;AL353759;AMYH02013347;AMYH02013348;BC002842;BC096122;BE245851;BM153714;CH471087;M60751;NM_021063;NM_138720;XM_005249039 AAA63190;AAH02842;AAH96122;AAN06687;BAF85401;CAA11277;EAW55535;EAW55536;NP_066407;NP_619790;P58876;XP_005249096 Hs.591797 1688799;1734016;1770145;2139136;2159120;2166489;2220458 D12S1124;D6S2372;RH47386;RH69154;RH80280;STS-N33927;UniSTS:482908 H2B.1B;H2B/b;H2BFB;HIRIP2;MGC90432;dJ221C16.6 H2B histone family, member B;HIRA-interacting protein 2;OTTHUMP00000016142;OTTHUMP00000016143;histone 1, H2bd;histone H2B type 1-D;histone H2B.1 B;histone H2B.b APPROVED protein-coding ENSG00000158373 HGNC:4747 07535 602799 REVIEWED 1350317 HIST1H2BE histone cluster 1, H2be Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27413325 27413759 + 26184024 26184458 + 26183796 26184230 + 6480464;6907045 11080476;11689053;12408966;12477932;12757711;14574404;14657027;15489334;16283522;16307923;16319397;16627869;16713563;16916647;1768865;21907836;22505724;22623428;23463506;24816145;422550;9119399;9439656;9566873 8344 B2R4S9;P62807 ABBA01066554;AF531288;AL353759;AMYH02013348;BC101748;BC101750;CH471087;NM_003523;Z80780 AAI01749;AAI01751;AAN06688;ABZ92496;CAB02542;EAW55537;NP_003514;P62807 Hs.534369 2109387;2124898;2220414;2220580 HIST1H2BE_8795;RH47052;UniSTS:481659;UniSTS:485580 H2B.h;H2B/a;H2B/g;H2B/h;H2B/k;H2B/l;H2BFH;H2BFN;HIST1H2BC;HIST1H2BF;HIST1H2BG;HIST1H2BI;dJ221C16.8 H2B histone family, member H;OTTHUMP00000016144;histone 1, H2be;histone H2B type 1-C/E/F/G/I;histone H2B.1 A;histone H2B.a;histone H2B.g;histone H2B.h;histone H2B.k;histone H2B.l APPROVED protein-coding ENSG00000274290 HGNC:4753 11901 602805 REVIEWED 1346859 HIST1H2BF histone cluster 1, H2bf Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27429090 27429519 + 26199787 26200216 + 26199559 26199988 + 6480464;6907045 10064132;11080476;11689053;12408966;12477932;12860195;14657027;20881960;21907836;22505724;22623428;23563607;24816145;422550;9119399;9439656;9566873 8343 B2R4S9;P62807 ABBA01066554;AF531289;AL031777;AMYH02013349;BC056264;BC096120;BC096123;CH471087;NM_003522;Z80779 AAH96120;AAH96123;AAN06689;CAB02541;EAW55543;NP_003513;P62807 Hs.182137 2138536;2165222;2220458;2220600 RH66549;RH77901;UniSTS:482908;UniSTS:485722 H2B/a;H2B/g;H2B/h;H2B/k;H2B/l;H2BFG;HIST1H2BC;HIST1H2BE;HIST1H2BG;HIST1H2BI H2B histone family, member G;OTTHUMP00000016159;histone 1, H2bf;histone H2B type 1-C/E/F/G/I;histone H2B.1 A;histone H2B.a;histone H2B.g;histone H2B.h;histone H2B.k;histone H2B.l APPROVED protein-coding ENSG00000277224 HGNC:4752 11900 602804 REVIEWED 1312785 HIST1H2BI histone cluster 1, H2bi Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27502511 27502947 + 26273204 26273640 + 26272976 26273412 + 6480464;6907045;8554872 11080476;11689053;12408966;12477932;14657027;16307923;20442396;20800603;21907836;22505724;22623428;24816145;9119399;9439656;9566873 8346 B2R4S9;P62807 ABBA01066554;AF531292;AL031777;AMYH02013350;BC101653;BC101655;CH471087;NM_003525;Z80782 AAI01654;AAI01656;AAN06692;ABZ92498;CAB02544;EAW55554;NP_003516;P62807 Hs.553506 2108139;2150883;2220416;2220480 HIST1H2BI_8797;RH47051;UniSTS:481665;UniSTS:483442 H2B/a;H2B/g;H2B/h;H2B/k;H2B/l;H2BFK;HIST1H2BC;HIST1H2BE;HIST1H2BF;HIST1H2BG H2B histone family, member K;OTTHUMP00000016162;histone 1, H2bi;histone H2B type 1-C/E/F/G/I;histone H2B.1 A;histone H2B.a;histone H2B.g;histone H2B.h;histone H2B.k;histone H2B.l APPROVED protein-coding ENSG00000278588 HGNC:4756 11903 602807 REVIEWED 1348596 HIST1H2BJ histone cluster 1, H2bj Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 28706094 28706574 - 27093912 27100743 - 27132316 27132796 - 1580863;6480464;6907045 10064132;10384058;11080476;11689053;11709551;11799066;11859126;12408966;12477932;12686141;12757711;12860195;14574404;14657027;15019208;16283522;16307923;16319397;16627869;16713563;16916647;18247557;19084217;19571809;19738201;20211142;20639865;21139048;21890473;21906983;21963094;21987572;22053931;22488895;22505724;22586326;23000965;23455924;23463506;24816145;2917990;6647026;8620898;9439656;9566873 8970 P06899;U3KPT8 ABBA01037988;AF531293;AK311849;AL021807;AMYH02013375;BC014312;CH471081;NM_021058;X00088 AAN06693;BAG34791;CAA24950;EAX03080;EAX03081;EAX03082;NP_066402;P06899 Hs.591807;Hs.656567 1646822;1792760;1794538;5037552 D8S2279;PMC162237P1;PMC316937P1;SGC35270 H2B/r;H2BFR;H2BJ H2B histone family, member R;OTTHUMP00000016175;histone 1, H2bj;histone H2B type 1-J;histone H2B.1;histone H2B.r APPROVED protein-coding HGNC:4761 13657 615044 REVIEWED 1343164 HIST1H2BH histone cluster 1, H2bh Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27481186 27481610 + 26251848 26261783 + 26251651 26252075 + 1580863;6480464;6907045 11080476;11689053;12408966;12477932;12757711;14574404;14657027;16283522;16307923;16319397;16457587;16627869;16713563;16916647;18247557;20639865;21139048;21890473;21906983;21963094;21987572;22053931;22174317;22505724;22623428;23000965;23254330;23463506;24816145;25015289;9119399;9439656;9566873 8345 Q93079 ABBA01066554;AF531291;AK312052;AL031777;AMYH02013350;BC096116;BC096117;BC096118;BC096119;CH471087;NM_003524;Z80781 AAH96116;AAH96117;AAH96118;AAH96119;AAN06691;BAG34988;CAB02543;EAW55552;NP_003515;Q93079 Hs.247815 1655170;1676608;2108137;2131627;2220388;2220518 HIST1H2BH_8796;RH47053;RH77902;RH80097;UniSTS:481058;UniSTS:483863 H2B/j;H2BFJ H2B histone family, member J;OTTHUMP00000016161;histone 1, H2bh;histone H2B type 1-H;histone H2B.j APPROVED protein-coding ENSG00000275713 HGNC:4755 11902 602806 REVIEWED 1346575 HIST1H2BG histone cluster 1, H2bg Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27445731 27446175 - 26216428 26216872 - 26216200 26216644 - 6480464;6907045;8554872 11080476;11689053;11790298;11859126;12408966;12477932;12757711;12860195;14574404;14595808;14657027;15019208;15161933;15489334;16196087;16283522;16307923;16319397;16457587;16627869;16713563;16916647;18247557;18457437;1916825;20639865;21130743;21139048;21890473;21906983;21907836;21963094;21987572;22053931;22505724;22616001;22623428;23000965;23254330;24816145;422550;8620898;8814229;9119399;9439656;9566873;9973324 8339 B2R4S9;P62807 ABBA01066554;AF531290;AK311935;AL031777;AMYH02013350;BC082232;CH471087;M60750;NM_003518 AAA63189;AAN06690;ABZ92497;BAG34876;EAW55545;NP_003509;P62807 Hs.591809 1700132;1858381;2220476;2220516 RH103679;RH69155;UniSTS:483215;UniSTS:483862 H2B.1A;H2B/a;H2B/g;H2B/h;H2B/k;H2B/l;H2BFA;HIST1H2BC;HIST1H2BE;HIST1H2BF;HIST1H2BI;dJ221C16.8 H2B histone family, member A;OTTHUMP00000016160;histone 1, H2bf;histone 1, H2bg;histone 1, H2bi;histone H2B type 1-C/E/F/G/I;histone H2B.1 A;histone H2B.a;histone H2B.g;histone H2B.h;histone H2B.k;histone H2B.l APPROVED protein-coding HGNC:4746 11897 602798 REVIEWED 1353528 HIST1H2BK histone cluster 1, H2bk Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2B family. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Jul 2008] 6 6 6 p21.33 28712071 28720638 - 27106072 27114637 - 27138293 27146858 - 1580863;6480464;6907045 10064132;10384058;11080476;11689053;11859126;12408966;12477932;12757711;12860195;14574404;14657027;15019208;15489334;15635413;15951514;16283522;16307923;16319397;16344560;16457587;16627869;16713563;16916647;1768865;18781797;19471022;19666485;19738201;20639865;21081666;21139048;21890473;21906983;21907836;21963094;21987572;22053931;22505724;23000965;23254330;23463506;24816145;8620898;9566873;9710638 85236 O60814 ABBA01037988;AF531294;AJ223352;AK292062;AL021807;AMYH02013375;AMYH02013376;BC000893;BC051872;BC064959;BC108737;CH471081;DA873786;NM_080593 AAH00893;AAH51872;AAH64959;AAI08738;AAN06694;ABZ92499;BAF84751;CAA11276;EAX03084;EAX03085;NP_542160;O60814 Hs.437275;Hs.689116 1654992;1681279;2110449;2220360;2220456;2220482 HIST1H2AH__7487;RH79884;UniSTS:480645;UniSTS:482788;UniSTS:483466;WI-11733 H2B K;H2B/S;H2BFAiii;H2BFT;H2BK;MGC131989 H2B histone family, member T;HIRA-interacting protein 1;OTTHUMP00000016177;histone 1, H2bk;histone H2B type 1-K;histone family member APPROVED protein-coding HGNC:13954 13658 615045 REVIEWED 1316667 HIST1H2BL histone cluster 1, H2bl Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29381295 29381747 - 27775257 27775709 - 27807479 27807931 - 1580863;6480464;6907045 10064132;11080476;11689053;12408966;12477932;12757711;14574404;14657027;15489334;15635413;16283522;16307923;16319397;16627869;16713563;16916647;17314511;18247557;19596686;19615732;20639865;20800603;21113133;21139048;21145461;21853274;21890473;21906983;21963094;21987572;22053931;22118674;22174317;22234250;22360420;22505724;22586326;22623428;23000965;23254330;23329831;23463506;23862649;24816145;9439656;9566873 8340 Q99880 ABBA01038011;AF531295;AK312114;AL009179;AMYH02013388;BC093759;BC093761;CH471081;NM_003519;Z83740 AAN06695;ABZ92500;BAG35050;CAB06035;EAX03106;NP_003510;Q99880 Hs.137594 2219798;2220370;2220676;5492961 HIST1H2BL__6546;UniSTS:480831;UniSTS:483441;UniSTS:490240 H2B/c;H2BFC;dJ97D16.4 H2B histone family, member C;OTTHUMP00000016184;histone 1, H2bl;histone H2B type 1-L;histone H2B.c APPROVED protein-coding ENSG00000185130 HGNC:4748 11898 602800 REVIEWED 1346747 HIST1H2BM histone cluster 1, H2bm Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29388860 29389305 + 27782822 27783267 + 27815044 27815489 + 1580863;6480464;6907045 10064132;11080476;11689053;12408966;12477932;12757711;12777385;14574404;14657027;15489334;16283522;16307923;16319397;16457587;16522924;16713563;16916647;20639865;21139048;21832049;21890473;21906983;21963094;21987572;22053931;22174317;22178446;22360420;22505724;22623428;23000965;23254330;23463506;24816145;25015289;9439656;9566873 8342 Q0D2M2;Q99879 ABBA01038011;AF531296;AL049822;AMYH02013389;BC066244;BC067485;BC067486;BC067487;BC067488;BC067489;CH471081;NM_003521;Z83738 AAH66244;AAH67485;AAH67486;AAH67487;AAH67488;AAH67489;AAN06696;CAB06033;EAX03110;NP_003512;Q99879 Hs.182432 2108141;2220412;2220420 HIST1H2BM_8793;UniSTS:481657;UniSTS:481732 H2B/e;H2BFE;dJ160A22.3 H2B histone family, member E;OTTHUMP00000016188;histone 1, H2bm;histone H2B type 1-M;histone H2B.e APPROVED protein-coding ENSG00000273703 HGNC:4750 04154 602802 REVIEWED 1343166 HIST1H2BO histone cluster 1, H2bo Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29467234 29467700 + 27861203 27926100 + 27893425 27893891 + 1580863;6480464;6907045 11080476;11689053;12408966;12477932;12757711;14574404;14657027;15489334;15635413;16283522;16307923;16319397;16627869;16713563;16916647;17620599;1768865;20085707;20639865;21139048;21890473;21906983;21963094;21987572;22053931;22505724;22863883;23000965;23463506;24816145;9439656;9566873 8348 P23527 ABBA01038011;AF531298;AMYH02013390;BC106720;CH471081;NM_003527;X57138;Z98744 AAI06721;AAN06698;ABZ92501;CAA40416;EAX03124;NP_003518;P23527 Hs.484991 2220460 UniSTS:482909 H2B.2;H2B/n;H2BFN;MGC119806;dJ193B12.2 H2B histone family, member N;OTTHUMP00000016190;histone 1, H2bo;histone H2B type 1-O;histone H2B.2;histone H2B.n APPROVED protein-coding ENSG00000274641 HGNC:4758 11904 602808 REVIEWED 1317658 HIST1H2BN histone cluster 1, H2bn Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29412400 29412930 + 27805544 27821533 + 27838662 27839110 + 1580863;6480464;6907045 10064132;11080476;11689053;12408966;12477932;12757711;14574404;14657027;15489334;15635413;16189514;16283522;16307923;16627869;16713563;16916647;20211142;20639865;21139048;21890473;21906983;21963094;21987572;22053931;22174317;22505724;22623428;23000965;23254330;23463506;24337577;24816145;9439656;9566873 8341 Q99877;U3KQK0 ABBA01038011;AF531297;AK312228;AMYH02013389;BC009783;BC011372;BC101411;BC101412;BC101413;CH471081;NM_003520;Z83336;Z98744 AAI01412;AAI01413;AAI01414;AAN06697;ABM81954;ABM85133;BAG35161;CAB05938;EAX03114;EAX03115;EAX03116;EAX03117;NP_003511;Q99877 Hs.534368;Hs.673851 2141524;2220648;2220668;5022200;5022651 AL021849;D11S2921;L18426;UniSTS:487023;UniSTS:489748 H2B/d;H2BFD;HIST1H3I;MGC125414;MGC125415;MGC125416;MGC9388 H2B histone family, member D;OTTHUMP00000018018;histone 1, H2bn;histone H2B type 1-N;histone H2B.d APPROVED protein-coding HGNC:4749 11899 602801 REVIEWED 1348661 HIST1H2BPS2 histone cluster 1, H2b, pseudogene 2 6 6 6 p22.1 29437878 29438217 - 27831840 27832179 - 27864062 27864401 - 9031620 10340 ABBA01038011;AMYH02013389;NG_029324;X83547;Z98744 2220368 UniSTS:480830 H2BFIP;pH2B.i;pH2B/i pseudo HGNC:4754 INFERRED 1344705 HIST1H2BPS1 histone cluster 1, H2b, pseudogene 1 6 6 6 p22.2 26959225 26959604 - 25731956 25732394 - 25731728 25732166 - 100288742 ABBA01066548;AL512384;AMYH02013341;NG_027974 H2BFVP;bA317E16.4 APPROVED pseudo HGNC:18719 INFERRED 1345402 HIST1H3A histone cluster 1, H3a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27247942 27248410 + 26020718 26021186 + 26020490 26020958 + 6480464;6907045 10097092;10384058;10436156;10644696;10926844;10949293;10975519;11003660;11080476;11242053;11252719;11585930;11689053;11689448;11691835;11691934;11742995;11756469;11779497;11791185;11830591;11850410;11882902;11884585;11964378;12151336;12408966;12453419;12477932;12498683;12577067;12626569;12823900;12840002;14559996;14578449;14595808;14657027;14718166;14731392;14993289;15005629;15100215;15136563;15308690;15316025;15327775;15456770;15471871;15485929;15525938;15561719;15616580;15664198;15670829;15674325;15834423;15870294;15960974;15963510;15964548;16079794;16107701;16118227;16122695;16140033;16185068;16223729;16224021;16227571;16246723;16252006;16287840;16372014;16409643;16415179;16415881;16431907;16449642;16537902;16537907;16600877;16601153;16618798;16684779;16687578;16696975;16713563;16717280;16728976;16732292;16732293;16829959;16829960;16858404;16946699;16956976;17041588;17043108;17048991;17050672;17190600;17207965;17210640;17339334;17599839;17713478;17923682;17925232;17967883;18259216;18292755;18477699;1916825;19172748;19358706;19410544;19567704;19624289;19729656;19766566;19783980;19801601;19808672;19834512;20011120;20053357;20080577;20084102;20118233;20167597;20208542;20224553;20228790;20331966;20346720;20347844;20351180;20368734;20368990;20377878;20389281;20393127;20400511;20400950;20410295;20421419;20424263;20442285;20448663;20452361;20531378;20541251;20548336;20622853;20639865;20818375;20876399;20972266;21098080;21164480;21167174;21187428;21239497;21243721;21256161;21278251;21397507;21421568;21740303;21890473;21906983;21907836;21963094;21987572;22052904;22064703;22118674;22184063;22190034;22196728;22228774;22231400;22403242;22404984;22407294;22449972;22451921;22467210;22473132;22505724;22623428;22825849;23000965;23275563;23319141;23752268;24369422;24816145;25015289;8598932;9119399;9439656;9566873 8350 P68431 ABBA01066552;AF531274;AMYH02013346;BC066245;BC066246;BC066247;BC067490;BC067491;BC069303;CH471087;CR541858;NM_003529;U91328;Z46261 AAH66245;AAH66246;AAH66247;AAH67490;AAH67491;AAH69303;AAN10051;ADQ32889;CAA86403;CAG46656;EAW55508;NP_003520;P68431 Hs.546315 1773925;1794540;2147090;2220418 PMC316937P2;RH46871;STS-Z46261;UniSTS:481684 H3/A;H3FA;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member A;OTTHUMP00000016135;histone 1, H3a;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000275714 HGNC:4766 04155 602810 REVIEWED 1348947 HIST1H3C histone cluster 1, H3c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27274922 27275380 + 26045639 26046097 + 26045411 26045869 + 6480464;6907045 10759893;10975519;11080476;11242053;11689053;11791185;11882902;12408966;12477932;12842904;14657027;15282608;17967883;21164480;21167174;21907836;22118674;22407294;22505724;22623428;23142979;24816145;25015289;8227173;9119399;9439656;9566873 8352 P68431 ABBA01066552;AF531276;AMYH02013346;BC058834;BC127610;CH471087;NM_003531;U91328;X57128 AAI27611;AAI60079;AAN10053;CAA40407;EAW55514;NP_003522;P68431 Hs.248176 2107209;2220520 HIST1H3C__6551;UniSTS:483864 H3.1;H3/c;H3FC;HIST1H3A;HIST1H3B;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member C;OTTHUMP00000016133;histone 1, H3c;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000278272 HGNC:4768 11906 602812 REVIEWED 1347747 HIST1H3B histone cluster 1, H3b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27259041 27259512 - 26031817 26032288 - 26031589 26032060 - 6480464;6907045;8554872 10464286;10975519;11080476;11242053;11689053;11791185;11856369;12408966;12477932;12560483;14574404;14657027;15345777;15471871;15489334;15525939;15664198;15681610;15684425;15951514;15983376;16185088;16246723;16267050;16372014;16457588;16497732;16622419;16627869;16678110;16916647;17081972;17189264;17194708;17967883;1916825;19279000;20379614;20442396;20587610;20864036;20920473;21164480;21167174;21907836;22118674;22174851;22505724;22623428;24242757;24816145;25015289;3013246;6647026;7309716;8227173;9031620;9119399;9149941;9439656;9566873 8358 P68431 ABBA01066552;AF531275;AMYH02013346;BC069133;BC096132;BC096133;BC096134;BC099630;CH471087;M26150;NM_003537;U91328;X00090 AAA52651;AAH69133;AAH96132;AAH96133;AAH96134;AAH99630;AAN10052;CAA24952;EAW55511;NP_003528;P68431 Hs.533292 1648766;2107207;2176669;2183514;2220374;2220410;2220628 HIST1H3B__7495;STS-X00089;STS-X00090;STS-Z83741;UniSTS:480870;UniSTS:481651;UniSTS:486359 H3/l;H3FL;HIST1H3A;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member L;OTTHUMP00000016132;histone 1, H3b;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000274267 HGNC:4776 11913 602819 REVIEWED 5509857 HIST1H2BPS3 HIST1H2B pseudogene 3 13 13 22057973 22058313 - 21483834 21484174 - 100820735 ABBA01068607;AL136219;AMYH02027661;NG_030513 APPROVED pseudo HGNC:42633 INFERRED 1351707 HIST1H3E histone cluster 1, H3e Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27454686 27455147 + 26224427 26227706 + 26225155 26225616 + 6480464;6907045 11080476;11689053;12408966;12477932;14657027;15010469;15664198;16622419;17052464;17081972;17355966;17967883;19034380;1916825;19797895;19919681;20080577;20223770;20504901;21164480;21167174;21724829;21907836;22118674;22195966;22505724;22623428;23463506;24816145;25015289;9119399;9439656;9566873 8353 P68431 ABBA01066554;AF531278;AL031777;AMYH02013350;CH471087;CR542014;M60746;NM_003532 AAA63185;AAN10055;ABZ92502;CAG46811;EAW55547;NP_003523;P68431 Hs.443021;Hs.586261 1682744;2154018 RH69153;RH92082 H3.1;H3/d;H3FD;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member D;OTTHUMP00000016150;histone 1, H3e;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000274750 HGNC:4769 11907 602813 REVIEWED 1346430 HIST1H3G histone cluster 1, H3g Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27500453 27500919 - 26271146 26271612 - 26270918 26271384 - 6480464;6907045;8554872 11080476;11689053;12408966;12477932;14657027;16189514;21164480;21167174;21907836;22118674;22505724;22623428;24816145;25015289;9119399;9439656;9566873 8355 P68431 ABBA01066554;AF531280;AL031777;AMYH02013350;BC012185;BC079835;CH471087;NM_003534;Z80785 AAN10057;ABZ92503;CAB02547;EAW55553;NP_003525;P68431 Hs.247813 2150883 RH47051 H3/h;H3FH;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member H;OTTHUMP00000016152;histone 1, H3g;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding HGNC:4772 11909 602815 REVIEWED 1349026 HIST1H3D histone cluster 1, H3d Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27426313 27428767 - 26196982 26199521 - 26196784 26199293 - 6480464;6907045 11080476;11689053;12408966;12477932;14657027;14702039;16344560;17967883;20881960;21164480;21907836;21987572;22118674;22505724;22623428;23563607;24097871;24457600;24816145;25015289;9119399;9439656;9566873 8351 P68431 ABBA01066554;AF531277;AK316611;AL031777;AMYH02013349;BC031333;BQ051491;CH471087;DB242999;NM_003530;Z80784 AAH31333;AAN10054;ABM83721;ABM87041;BAG38198;CAB02546;EAW55539;NP_003521;P68431 Hs.532144;Hs.626666 2107211;2138536;2141632;2165222;2220458;2220600 HIST1H3D__6552;RH66549;RH77901;SGC33007;UniSTS:482908;UniSTS:485722 H3/b;H3FB;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member B;OTTHUMP00000016149;histone 1, H3d;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding HGNC:4767 11905 602811 REVIEWED 1345148 HIST1H3H histone cluster 1, H3h Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29383880 29384352 + 27777842 27778314 + 27810064 27810536 + 6480464;6907045 10949293;11080476;11689053;12408966;12477932;14657027;14718166;16189514;16267050;19946888;21164480;21167174;21907836;22118674;22505724;22623428;23275563;24816145;25015289;9439656;9566873 8357 P68431 ABBA01038011;AF531281;AK311991;AL009179;AMYH02013388;BC007518;BC096128;BC096129;BC096130;BC143046;BC148243;BC148250;CH471081;NM_003536;Z83735 AAH96128;AAH96129;AAH96130;AAI43047;AAI48244;AAI48251;AAN10058;ABZ92504;BAG34929;CAB06030;EAX03108;NP_003527;P68431 Hs.591778 2154436;2220676 RH47943;UniSTS:490240 FLJ92264;H3/k;H3F1K;H3FK;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3I;HIST1H3J H3 histone family, member K;OTTHUMP00000016182;histone 1, H3h;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding HGNC:4775 11912 602818 REVIEWED 1322682 HIST1H3I histone cluster 1, H3i Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29445658 29446134 - 27839623 27840099 - 27871845 27872321 - 6480464;6907045;8554872 11080476;11689053;12408966;12477932;14657027;17668447;21164480;21167174;21907836;22118674;22505724;22623428;24816145;25015289;9031620;9439656;9566873 8354 P68431 ABBA01038011;AF531282;AK313905;AMYH02013389;BC066884;BC067493;BC067494;BC069305;CH471081;NM_003533;X83550;Z98744 AAH66884;AAH67493;AAH69305;AAN10059;BAG36628;CAA58540;EAX03120;NP_003524;P68431 Hs.132854;Hs.586261 2108143;2116426;2220350;2220428;2220508 HIST1H4L_8800;RH70929;UniSTS:480462;UniSTS:481872;UniSTS:483756 H3.f;H3/f;H3FF;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3J H3 histone family, member F;OTTHUMP00000017803;histone 1, H3i;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000275379 HGNC:4771 11908 602814 REVIEWED 1343932 HIST1H3F histone cluster 1, H3f Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.2 27479677 27480142 - 26250370 26250835 - 26250142 26250607 - 6480464;6907045 10949293;10975519;11080476;11242053;11689053;11791185;12408966;12477932;12540855;12823900;14657027;14718166;16267050;16415881;17353931;17967883;18029348;1916825;19946888;20089855;20213041;21164480;21167174;21907836;22118674;22505724;22623428;24816145;25015289;9119399;9439656;9566873 8968 P68431 ABBA01066554;AF531279;AK314142;AL031777;AMYH02013350;BC062305;BC067492;BC069818;BC096131;CH471087;CR541983;CR542011;NM_021018;Z80786 AAH67492;AAH69818;AAH96131;AAN10056;BAG36832;CAB02548;CAG46780;CAG46808;EAW55551;NP_066298;P68431 Hs.247814 1655170;1676608;2108137;2131627;2220388;2220518 HIST1H2BH_8796;RH47053;RH77902;RH80097;UniSTS:481058;UniSTS:483863 H3/i;H3FI;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member I;OTTHUMP00000016151;histone 1, H3f;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000277775 HGNC:4773 11910 602816 REVIEWED 1348994 HIST1H3PS1 histone cluster 1, H3, pseudogene 1 6 6 p22.1 26322104 26322520 - 26321876 26322292 - 100289545;387324 ABBA01066554;AL021917;AMYH02013350;NG_029540 1698176;2175176 D6S2367;RH102624 H3F3AP1;dJ45P21.6 APPROVED pseudo ENSG00000220875 HGNC:18982 INFERRED 1349112 HIST1H3J histone cluster 1, H3j Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29464124 29464601 - 27858093 27858570 - 27890315 27890792 - 6480464;6907045 11076863;11080476;11689053;12408966;12477932;14657027;21164480;21167174;21907836;22118674;22505724;24816145;25015289;9439656;9566873 8356 P68431 ABBA01038011;AF531283;AMYH02013390;CH471081;NM_003535;Z83737;Z98744 AAI11922;AAN10060;ADR82713;CAB06032;EAX03122;NP_003526;P68431 Hs.484990 1851123;2106495;2220582 HIST1H3J__6558;STS-Z83737;UniSTS:485604 H3/j;H3FJ;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I H3 histone family, member J;OTTHUMP00000017804;histone 1, H3j;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000197153 HGNC:4774 11911 602817 REVIEWED 1342856 HIST1H4B histone cluster 1, H4b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27254348 27254704 - 26027124 26027480 - 26026896 26027252 - 6480464;6907045;8554872 10220385;11080476;11689053;12408966;12477932;14585971;14657027;14718166;17207965;18051367;18474616;1916825;19199708;19596686;19738201;19946888;21044950;21110914;21145461;21164480;21693764;21800051;21907836;22118674;22145905;22493515;22505724;22623428;24816145;25015289;3035717;9119399;9149941;9439656;9566873 8366 B2R4R0;P62805 ABBA01066552;AMYH02013346;AY128655;BC069467;CH471087;NM_003544;U91328;X67081 AAH69467;AAN01440;ADQ32864;CAA47464;EAW55510;NP_003535;P62805 Hs.143080 1680697;2107213;2220390 HIST1H4B__6560;RH80865;UniSTS:481108 H4/I;H4FI;HIST1H4A;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member I;OTTHUMP00000016134;histone 1, H4b;histone H4 APPROVED protein-coding ENSG00000278705 HGNC:4789 11920 602829 REVIEWED 1315697 HIST1H4A histone cluster 1, H4a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27249131 27249502 + 26021907 26022278 + 26021679 26022050 + 6480464;6907045 10097092;10644696;10926844;10958685;11003660;11080476;11310559;11387442;11689053;11689448;11691835;11691934;11742995;11779497;11818576;11830591;11884585;11964378;12121615;12140263;12408966;12477932;12626569;12628926;12639951;12704081;12840002;14559996;14578449;14657027;14718166;14731392;15005629;15009096;15136563;15145825;15308690;15456770;15485929;15525938;15561719;15601853;15664198;15670829;15674325;15832170;15834423;15864311;15911693;15933069;15933070;15963510;15964846;16051612;16085498;16107701;16226712;16227571;16252006;16287840;16415179;16522924;16537902;16618798;16696975;16717280;16844118;16917504;17043108;17048991;17148447;17190600;17339334;17599839;18512960;19393168;19596686;19738201;19766566;19783983;19818714;19847302;19862764;19928837;20000738;20080577;20129055;20167597;20224553;20347844;20351180;20368734;20368990;20377878;20385135;20393127;20410295;20452361;20618440;20622853;20639865;20972266;21098080;21110914;21139048;21145461;21164480;21668587;21693764;21726816;21778671;21800051;21840486;21890473;21906983;21907836;21963094;21969370;21987572;22100137;22118674;22145905;22174317;22174851;22268729;22379092;22406139;22407294;22449972;22467210;22493515;22498736;22505724;22615379;22623428;22810585;22863883;23000965;23077236;23084401;23319141;23398456;24337577;24369422;24530302;24816145;25015289;3035717;8647104;8858152;9119399;9439656;9566873;9710638 8359 B2R4R0;P62805 ABBA01066552;AMYH02013346;AY128654;BC066248;BC066249;BC067495;BC069654;CH471087;NM_003538;U91328;X60481 AAH66248;AAH66249;AAH67495;AAH69654;AAN01439;ABZ92505;CAA43011;EAW55509;NP_003529;P62805 Hs.248178 1680100;1773925;1794540;2147090;2219800;2220376;2220418 HIST1H4A__6559;PMC316937P2;RH46871;RH80860;STS-Z46261;UniSTS:480871;UniSTS:481684 H4/a;H4FA;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member A;OTTHUMP00000016136;histone 1, H4a;histone H4 APPROVED protein-coding ENSG00000278637 HGNC:4781 04157 602822 REVIEWED 1316645 HIST1H4E histone cluster 1, H4e Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27434175 27434551 + 26204873 26205249 + 26204645 26205021 + 6480464;6907045 11080476;11689053;12408966;12477932;14657027;17267499;19596686;19738201;21110914;21145461;21164480;21693764;21800051;21907836;22118674;22145905;22268729;22493515;22505724;22623428;24816145;25015289;9119399;9439656;9566873 8367 B2R4R0;P62805 ABBA01066554;AL031777;AMYH02013349;AY128658;BC012587;BC050615;BC056868;CH471087;CR542180;CR542189;NM_003545;Z80787 AAN01443;ABZ92507;CAB02549;CAG46977;CAG46986;EAW55544;NP_003536;P62805 Hs.662174 1723331;2142920 RH118481;RH71319 H4/j;H4FJ;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member J;OTTHUMP00000016156;histone 1, H4e;histone H4 APPROVED protein-coding ENSG00000276966 HGNC:4790 11921 602830 REVIEWED 1352928 HIST1H4C histone cluster 1, H4c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27333446 27333850 + 26104176 26104565 + 26103948 26104337 + 6480464;6907045 11080476;11689053;12408966;12477932;14657027;15556009;18051367;19596686;19738201;20525793;20587610;20686565;20800603;21110914;21145461;21164480;21693764;21800051;21907836;22118674;22145905;22505724;22623428;24816145;25015289;7626218;9119399;9439656;9566873 8364 B2R4R0;P62805 ABBA01066552;AMYH02013347;AY128656;BC054014;BC130558;BC130560;CH471087;NM_003542;U91328;X60486 AAH54014;AAI30559;AAI30561;AAN01441;ABZ92506;CAA43016;EAW55528;NP_003533;P62805 Hs.46423 1700062;1700076;2154919 RH103644;RH103651;RH70851 H4/g;H4FG;HIST1H4A;HIST1H4B;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4;dJ221C16.1 H4 histone family, member G;OTTHUMP00000016146;histone 1, H4c;histone H4 APPROVED protein-coding HGNC:4787 11918 602827 REVIEWED 1347367 HIST1H4D histone cluster 1, H4d Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27418239 27418605 - 26188938 26189304 - 26188710 26189076 - 6480464;6907045 10220385;11080476;11689053;12408966;12477932;14585971;14657027;14718166;15504738;18474616;19199708;19596686;19738201;19946888;21110914;21145461;21164480;21693764;21800051;21907836;22118674;22145905;22268729;22493515;22505724;22623428;24816145;25015289;3035717;9119399;9439656;9566873 8360 B2R4R0;P62805 ABBA01066554;AL353759;AMYH02013348;AY128657;BC128104;BC143045;CH471087;NM_003539;X60482 AAI28105;AAI43046;AAI56843;AAN01442;CAA43012;EAW55538;NP_003530;P62805 Hs.248179 2173615;2220338;2220614 D6S2371;UniSTS:480445;UniSTS:485813 H4/b;H4FB;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4;dJ221C16.9 H4 histone family, member B;OTTHUMP00000016140;histone 1, H4d;histone H4 APPROVED protein-coding ENSG00000277157 HGNC:4782 11914 602823 REVIEWED 1350829 HIST1H4G histone cluster 1, H4g Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27476146 27476512 - 26246839 26247205 - 26246611 26246977 - 1580863;6480464;6907045 11080476;11689053;12408966;12477932;14657027;18029348;22412018;22493515;24816145;9119399;9439656;9566873 8369 Q99525 ABBA01066554;AL031777;AMYH02013350;AY128660;BC126276;BC126278;CH471087;NM_003547;Z80788 AAI26277;AAI26279;AAN01445;ADR82789;CAB02550;EAW55550;NP_003538;Q99525 Hs.553507 2126679;2220352 UniSTS:480470;UniSTS:494809 H4/l;H4FL H4 histone family, member L;OTTHUMP00000016158;histone 1, H4g;histone H4-like protein type G APPROVED protein-coding ENSG00000275663 HGNC:4792 11806 602832 REVIEWED 1342673 HIST1H4I histone cluster 1, H4i Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Jul 2008] 6 6 6 p21.33 28713087 28713456 + 27106924 27108258 + 27139309 27139678 + 6480464;6907045 10064132;10220385;10384058;11080476;11689053;12408966;12477932;14574404;14585971;14657027;14718166;15489334;15504738;15782174;16196087;16678110;16807684;16916647;17081983;17207965;17925393;18070919;18474616;1916825;19199708;19596686;19738201;19946888;21110914;21145461;21164480;21596426;21693764;21800051;21832049;21907836;22118674;22145905;22268729;22493515;22505724;22623428;2474456;24816145;25015289;25027693;3035717;3340182;6314274;7626218;8988030;9031620;9119399;9439656;9566873 8294 B2R4R0;P62805 AB000905;ABBA01037988;AL021807;AMYH02013375;AY128662;BC016336;BC066250;BC067496;BC067497;BC075806;CH471081;NM_003495 AAH66250;AAH67496;AAH67497;AAN01447;ADQ33135;BAA19208;EAX03086;NP_003486;P62805 Hs.248172 1654992;1681279 RH79884;WI-11733 H4/m;H4FM;H4M;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member M;Histone 4 family, member M;OTTHUMP00000016176;histone 1, H4i;histone H4;histone family member APPROVED protein-coding HGNC:4793 09109 602833 REVIEWED 1314497 HIST1H4H histone cluster 1, H4h Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27514661 27515034 - 26281278 26285844 - 26285126 26285499 - 6480464;6907045 10220385;11080476;11689053;12408966;12477932;14585971;14657027;14718166;18474616;19199708;19596686;19738201;19946888;21110914;21145461;21164480;21693764;21800051;21907836;22118674;22145905;22268729;22493515;22505724;22623428;23443559;24816145;25015289;3035717;9119399;9439656;9566873 8365 B2R4R0;P62805 ABBA01066554;AL021917;AMYH02013350;AY128661;BC010926;BC120939;CH471087;CR542169;CR542187;NM_003543;X60487 AAI20940;AAN01446;ABM83716;ABM87036;CAA43017;CAG46966;CAG46984;EAW55555;EAW55556;NP_003534;P62805 Hs.591790 1645706;2162849;2183186 AL031212;RH70852;STS-N32748 H4/h;H4FH;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member H;OTTHUMP00000016169;histone 1, H4h;histone H4 APPROVED protein-coding ENSG00000158406 HGNC:4788 11919 602828 REVIEWED 1354264 HIST1H4F histone cluster 1, H4f Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27469961 27470328 + 26240654 26241021 + 26240426 26240793 + 6480464;6907045 10759893;11080476;11689053;12408966;12477932;12628926;12842904;14657027;15282608;15504738;15601853;17274598;1916825;19596686;19738201;21110914;21145461;21164480;21278419;21693764;21724829;21800051;21888893;21907836;22118674;22145905;22493515;22505724;22623428;23142979;23349634;24081945;24816145;25015289;3035717;9119399;9439656;9566873 8361 B2R4R0;P62805 ABBA01066554;AL031777;AMYH02013350;AY128659;BC069288;BC093763;BC093765;CH471087;M60749;NM_003540 AAA63188;AAH69288;AAH93763;AAH93765;AAN01444;ABM83531;ABM86771;EAW55549;NP_003531;P62805 Hs.247816 1678099;2220340;2220598 RH80279;UniSTS:480446;UniSTS:485717 H4;H4/c;H4FC;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member C;OTTHUMP00000016157;histone 1, H4f;histone H4 APPROVED protein-coding ENSG00000274618 HGNC:4783 11915 602824 REVIEWED 1315785 HIST1H4J histone cluster 1, H4j Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29397939 29398294 + 27791903 27792258 + 27824125 27824480 + 6480464;6907045 11080476;11689053;12408966;12477932;14657027;19596686;19738201;21110914;21145461;21164480;21693764;21800051;21907836;21987572;22118674;22145905;22493515;22505724;22623428;23329831;24244333;24816145;25015289;6265100;9439656;9566873 8363 B2R4R0;P62805 ABBA01038011;AL049822;AMYH02013389;AY128663;BC017361;BC148271;CH471081;NM_021968;X60484 AAH17361;AAI40250;AAI46524;AAI48272;AAN01448;CAA43014;EAX03111;NP_068803;P62805 Hs.278483 1675945 RH79842 H4/e;H4F2iv;H4FE;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4;MGC166960;MGC29783;dJ160A22.2 H4 histone family, member E;OTTHUMP00000016186;histone 1, H4j;histone H4 APPROVED protein-coding ENSG00000197238 HGNC:4785 11917 602826 REVIEWED 1349552 HIST1H4K histone cluster 1, H4k Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29404988 29405341 - 27798952 27799305 - 27831174 27831527 - 6480464;6907045 11080476;11689053;12408966;14657027;19596686;19738201;21110914;21145461;21164480;21693764;21800051;21907836;22118674;22145905;22493515;22505724;22623428;24065480;24816145;25015289;9439656;9566873 8362 B2R4R0;P62805 ABBA01038011;AK312028;AL049822;AMYH02013389;AY128664;CH471081;NM_003541;X60483 AAI48486;AAI53082;AAN01449;BAG34965;CAA43013;EAX03112;NP_003532;P62805 Hs.528055 1675945;2110451;2220342 HIST1H4K_8798;RH79842;UniSTS:480450 H4/d;H4F2iii;H4FD;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4;dJ160A22.1 H4 histone family, member D;OTTHUMP00000016187;histone 1, H4k;histone H4 APPROVED protein-coding ENSG00000273542 HGNC:4784 11916 602825 REVIEWED 1316194 HIST2H2AA3 histone cluster 2, H2aa3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Jul 2008] 1 1 1 q21.2 122548196 122548729 - 149813785 149814318 - 149842218 149842751 - 6480464;6907045 11080476;11181995;11375490;11689053;12408966;12477932;12628926;14657027;14759373;14992727;15010469;15078818;15386022;15489334;15527963;15635413;15823041;16159877;16319397;16322561;16359901;16457589;16702407;16710414;17914355;18688256;19615732;20525793;20599239;20639865;2071153;20972266;21041483;21139048;21179169;21443952;21693764;21726816;21772249;21832049;21890473;21906983;21963094;21987572;22053931;22505724;22810585;22980979;23000965;23349634;24457600;24550385;24654937;24703950;6326092;8179821;8543049;8858345;9439656;9566873 8337 Q6FI13 ABBA01049309;AC239868;AK312163;AL591493;AY131971;BC001629;BC019308;BC096705;BC096739;BC098171;CH878687;CR536525;CR541872;K01889;L19779;NM_003516 AAA35945;AAC24465;AAH96705;AAH96739;AAH98171;AAI52788;AAN59957;BAG35097;CAG38762;CAG46670;CAI12562;EAW50859;NP_003507;Q6FI13 Hs.530461 2110453;2159519;2172456 HIST2H2AA__3118;RH69022;SHGC-36240 H2A;H2A.2;H2A/O;H2A/q;H2AFO;H2a-615;HIST2H2AA;HIST2H2AA4 H2A histone family, member O;OTTHUMP00000014042;histone 2, H2aa3;histone 2, h2aa;histone H2A type 2-A;histone H2A.2;histone H2A/o APPROVED protein-coding ENSG00000203812 HGNC:4736 08851 142720 REVIEWED 1348139 HIST1H4PS1 histone cluster 1, H4, pseudogene 1 6 6 6 p22.1 29380983 29381153 + 27774945 27775115 + 27807167 27807337 + 9439656 10337 ABBA01038011;AL009179;AMYH02013388;NG_029323;X60485 1336614;7184144;7187249 D6S105 H4FFP;dJ97D16.3;pH4/f pseudo HGNC:4786 INFERRED 1604408 HIST2H2AA4 histone cluster 2, H2aa4 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Jul 2008] 1 1 q21.2 149822628 149823161 + 149851061 149851594 + 6480464;6907045 12408966;12477932;15527963;16457589;19199708;19666485;2071153;21693764;22505724;8179821 723790 Q6FI13 ABBA01049309;AC239868;AK312163;AL591493;BC001629;BC019308;BC096705;BC096739;BC098171;CR536525;CR541872;L19779;NM_001040874 AAC24465;AAH96705;AAH96739;AAH98171;ACE86486;ACE87167;BAG35097;CAG38762;CAG46670;CAI12565;NP_001035807;Q6FI13 Hs.530461;Hs.745563 2110453;2159519 HIST2H2AA__3118;RH69022 H2A/R;HIST2H2AA3 OTTHUMP00000013922;histone 2, H2aa4;histone H2A type 2-A;histone H2A.2;histone H2A/o;histone H2A/r APPROVED protein-coding ENSG00000272196 HGNC:29668 VALIDATED 1350646 HIST2H2AB histone cluster 2, H2ab Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Jul 2008] 1 1 1 q21 122975244 122975691 - 149859019 149859466 - 149887469 149887916 - 1580863;6480464;6907045;8554872 11080476;11689053;11689448;11691835;11691934;11927591;12408966;14657027;15010469;15078818;15386022;15823041;16359901;16702407;16710414;16712789;17620599;18160415;18247557;18781797;19056867;19343720;20639865;20972266;21139048;21832049;21890473;21906983;21963094;21987572;22053931;22178446;22505724;23000965;24457600;24654937;25015289;9566873 317772 Q8IUE6 ABBA01049313;AC239868;AL591493;AY131972;CH471121;NM_175065 AAI72330;AAN59958;CAI12570;EAW53603;NP_778235;Q8IUE6 Hs.664173 2126665;2220402 UniSTS:481474;UniSTS:494015 H2AB OTTHUMP00000013908;histone 2, H2ab;histone H2A type 2-B APPROVED protein-coding ENSG00000184270 HGNC:20508 13659 615014 REVIEWED 1345343 HIST2H2BA histone cluster 2, H2ba (pseudogene) 1 1 p11.2 120906034 120914842 + 121108441 121117251 - 12408966;12477932;14992727;16322561;20194426 337875 AC244453;AL357493;AY131975;BC106916;BC126904;NR_027337 Hs.742189 MGC126029;MGC126031 APPROVED pseudo HGNC:20560 PROVISIONAL 1344053 HIST2H2BB histone cluster 2, H2bb (pseudogene) 1 1 q21.2 149398799 149399179 - 143904223 143904603 - 6480464 12408966;20194426;21782046 338391 AC239798;AL109948;AY131976;NG_002652 histone 2, h2bb APPROVED pseudo HGNC:20654 INFERRED 1318739 HIST1H4L histone cluster 1, H4l Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29446961 29447324 - 27840926 27841289 - 27873148 27873511 - 6480464;6907045;8554872 11080476;11689053;12408966;12477932;14657027;17207965;19596686;19738201;21110914;21145461;21164480;21693764;21800051;21907836;22118674;22145905;22493515;22505724;22623428;24816145;25015289;9031620;9439656;9566873 8368 B2R4R0;P62805 ABBA01038011;AMYH02013389;AY128665;BC069392;CH471081;NM_003546;X83548;Z98744 AAH69392;AAN01450;ADQ32876;CAA58538;EAX03121;NP_003537;P62805 Hs.533295 2108143;2116426;2220350;2220508 HIST1H4L_8800;RH70929;UniSTS:480462;UniSTS:483756 H4.k;H4/k;H4FK;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member K;OTTHUMP00000017840;histone 1, H4l;histone H4 APPROVED protein-coding ENSG00000275126 HGNC:4791 11922 602831 REVIEWED 1354148 HIST2H2BC histone cluster 2, H2bc (pseudogene) ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); FOUND IN nucleosome (inferred); nucleus (inferred) 1 1 1 q21.2 122556170 122556751 - 149821759 149822340 - 149850192 149850773 - 12408966;12757711;15527963;16283522;16916647;20194426;21110914;24816145;2843516 337873 Q6DN03 ABBA01049309;AC239868;AK299891;AL591493;AY131977;AY648853;AY656810;BC071638;NR_036461 AAT68256;AAT72343;BAH13163 Hs.666643 2110453;2159519 HIST2H2AA__3118;RH69022 H2B/t;HIST2H2BD APPROVED pseudo ENSG00000203819 HGNC:20516 PROVISIONAL 1353344 HIST2H2AC histone cluster 2, H2ac Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. [provided by RefSeq, Jul 2008] 1 1 1 q21.2 122974750 122975186 + 149858525 149858961 + 149886975 149887411 + 1580863;6480464;6907045;8554872 10096020;11073993;11080476;11689053;11927591;12072557;12408966;12477932;12626569;12628926;12786946;14578449;14657027;1469070;14759373;14993289;15010469;15078818;15136563;15308690;15386022;15456770;15489334;15527963;15670829;15674325;15823041;15870294;15963510;16096645;16107701;16252006;16319397;16359901;16415179;16457589;16473935;16601700;16618798;16622419;16696975;16702407;16710298;16710414;16714294;16996029;17048991;17179179;17687327;17707232;17914355;18206972;18247557;18404153;18562274;18593899;19015238;19203578;19385636;19500350;19531475;19667409;1989977;19916563;19928837;20075863;20080676;20122409;20224553;20332121;20347844;20351251;20368734;20377878;20436459;20541997;20599239;20639865;20838438;20972266;21041483;21081666;21139048;21183687;21278419;21443952;21596310;21633354;21693764;21706008;21726816;21746879;21772249;21890473;21906983;21963094;21969370;21987572;22053931;22081970;22334663;22467210;22492721;22505724;22616001;22742833;22810585;22980979;23000965;23207902;23460923;24034696;24360965;24526689;24634510;2843516;8598932;9427644;9439656;9447982;9566873 8338 Q16777 ABBA01049312;AC239868;AL591493;AY131973;AY648852;BC060324;CH471121;NM_003517;X57985 AAH60324;AAN59959;AAT68255;ABZ92508;CAA41050;CAI12569;EAW53604;NP_003508;Q16777 Hs.408067 1735866 D1S1921E H2A;H2A-GL101;H2A/q;H2AFQ;MGC74460 H2A histone family, member Q;OTTHUMP00000033967;histone 2, H2ac;histone H2A type 2-C;histone H2A-GL101;histone H2A/q;histone IIa APPROVED protein-coding ENSG00000184260 HGNC:4738 09107 602797 REVIEWED 1350930 HIST2H2BD histone cluster 2, H2bd (pseudogene) ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); FOUND IN extracellular vesicular exosome 1 1 1 q21.2 122549017 122549511 + 149814587 149815078 + 149843020 149843511 + 12408966;12757711;15527963;16283522;16916647;20194426;24816145;6326092 337874 Q6DRA6 ABBA01049309;AC239868;AL591493;AY131978;AY648853;NG_001226 Q6DRA6 2110453;2159519 HIST2H2AA__3118;RH69022 H2B/o;H2B/s;H2BFO APPROVED pseudo HGNC:20517 INFERRED 1342896 HIST2H3A histone cluster 2, H3a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Jul 2008] 1 1 q21.2 149824181 149824687 + 149852619 149853125 + 6480464;6907045 10464286;10523658;11242053;11336697;11856369;11959841;12015309;12408966;12427740;12477932;12489984;12560483;12590135;12786946;12888554;14985713;15339660;15345777;15471871;15489334;15525939;15527963;15681610;15684425;16185088;16267050;16497732;16627869;16678110;16710414;16829959;16829960;16916647;17189264;17194708;17320160;17320161;17353931;17468742;17704213;17950276;17967883;18077460;18712172;18840606;19199708;19250903;19250906;19738201;19747413;19801601;21252943;21489993;22118674;22505724;22623428;24816145;2843516;3013246;6494913;7309716 333932 Q71DI3 ABBA01049309;AC239868;AF531305;AL591493;AY648851;BC015544;BC074969;BC130635;BC130637;NM_001005464 AAH74969;AAI30636;AAI30638;AAT68254;CAI12566;NP_001005464;Q71DI3 Hs.647745;Hs.706618 2110453;2159519;2220438 HIST2H2AA__3118;RH69022;UniSTS:482157 H3/n;H3/o;HIST2H3C;HIST2H3D OTTHUMP00000013919;histone 2, H3a;histone H3.2;histone H3/m;histone H3/o APPROVED protein-coding HGNC:20505 13626 REVIEWED 1343213 HIST2H2BE histone cluster 2, H2be Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2B family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Jul 2008] 1 1 1 q21.2 122972235 122974457 - 149856010 149858232 - 149884460 149886682 - 1580863;6480464;6907045;8554872 10022855;10821277;11060286;11080476;11241673;11266453;11310559;11375490;11689053;11824786;11859126;12408966;12477932;12489984;12626569;12628926;12686141;12757711;12786946;12860195;12888554;14578449;14657027;1469070;14702039;14731392;14993289;15009096;15010469;15019208;15136563;15308690;15456770;15489334;15546622;15601853;15635413;15674325;16096645;16107701;16252006;16283522;16307923;16415179;16457587;16522924;16601700;16618798;16627869;16696975;16710414;16713563;16916647;16996029;17000644;17074886;17179179;17207965;17274598;17353931;17403666;17573780;17687327;17914355;17938195;18206970;18206972;18247557;18274552;18292755;18682386;18688256;19015238;19015240;19199708;19410543;19425504;19531475;1993178;19940129;20086098;20122409;20224553;20332121;20347844;20368734;20377878;20473970;20599239;20639865;20936779;21041410;21041483;21139048;21145461;21183687;21278419;21282530;21319273;21439383;21443952;21572393;21633354;21706008;21726816;21739721;21746879;21827756;21853274;21890473;21906983;21907836;21963094;21965664;21969370;21987572;21994445;22053931;22081970;22118674;22174317;22421545;22505724;22592529;22615809;22658722;22742833;22751105;22967069;22980979;23000965;23151878;23184937;23326349;23329831;23349634;23460923;23824326;23926104;24339737;24360965;24526689;24634510;24654937;24816145;24837678;8180162;8576261;8620898;8647104;9325046;9566873;9651585;9710638;9724719;9748265;9973250;9973324 8349 Q16778 ABBA01049312;AC239868;AK093747;AK289725;AL591493;AY131979;BC005827;BC069193;BC096121;BC098112;BC098289;BC107084;BC107085;CH471121;CR541895;M60756;NM_003528;X57985 AAA63192;AAH05827;AAH69193;AAH96121;AAH98112;AAH98289;AAI07085;AAI07086;AAN59961;ADQ32024;BAF82414;CAA41051;CAG46693;CAI12568;EAW53605;NP_003519;Q16778 Hs.2178 1735866;1847683;2106497;2126665;2178362;2220392;2220402;2220458 Cda0ab09;D1S1921E;HIST2H2BE_4100;UniSTS:481137;UniSTS:481474;UniSTS:482908;UniSTS:494015;WI-7732 GL105;H2B;H2B.1;H2BFQ;H2BGL105;H2BQ;MGC119802;MGC119804;MGC129733;MGC129734 H2B histone family, member Q;OTTHUMP00000013920;histone 2, H2be;histone H2B type 2-E;histone H2B-GL105;histone H2B.q APPROVED protein-coding ENSG00000184678 HGNC:4760 03494 601831 REVIEWED 1354031 HIST2H3B histone cluster 2, H3b q21.2 6480464 12408966;12888554 333931 AF531306;NG_002616 HIST2H3PS1 pseudo HGNC:20504 INFERRED 1603451 HIST2H2BF histone cluster 2, H2bf Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2B family and is found in a histone cluster on chromosome 1. [provided by RefSeq, Jan 2013] 1 1 q21.2 149754245 149783965 - 149756263 149812410 - 6907045;6480464 12477932;12757711;14702039;15489334;16283522;16307923;16319397;16344560;16710414;16713563;16916647;19056867;20639865;21139048;21890473;21906983;21963094;21987572;22053931;22174317;22505724;22623428;23000965;23254330;23463506;24816145 440689 B4DR52;Q5QNW6 AC239868;AC243772;AK092418;AK289664;AK296916;AK299108;AL591493;BC110793;DA042901;NG_033089;NM_001024599;NM_001161334;XM_006711335;XM_006711336;XM_006711337 AAI10794;BAC03883;BAF82353;BAG59471;BAG61164;CAI12558;NP_001019770;NP_001154806;Q5QNW6;XP_006711398;XP_006711399;XP_006711400 Hs.632451 1742053 GDB:190043 FLJ35099;FLJ56780;FLJ56787;MGC131639 OTTHUMP00000013918;histone 2, H2bf;histone H2B type 2-F protein-coding ENSG00000203814 HGNC:24700 18639 REVIEWED 1604125 HIST2H3D histone cluster 2, H3d ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); INVOLVED IN blood coagulation (inferred); PARTICIPATES IN systemic lupus erythematosus pathway; FOUND IN extracellular vesicular exosome; nucleus; INTERACTS WITH cadmium atom; copper(2+) sulfate; lucanthone 1 1 q21.2 149784780 149785236 - 149813225 149813681 - 6480464;6907045 17353931;17967883;18029348;19199708;21489993;22118674;22505724;22623428;24816145 653604 Q71DI3 AC239868;AL591493;NG_033089;NM_001123375 CAI12559;NP_001116847;Q71DI3 Hs.712062 2115331 RH66497 HIST2H3A;HIST2H3C OTTHUMP00000013917;histone 2, H3d;histone H3.2;histone H3/m;histone H3/o protein-coding ENSG00000183598 HGNC:25311 VALIDATED 1603452 HIST2H3PS2 histone cluster 2, H3, pseudogene 2 ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); FOUND IN nucleus; INTERACTS WITH 5-fluorouracil; atrazine; doxorubicin 1 1 q21.2 149400086 149400542 - 143905510 143905966 - 6480464 10464286;11242053;11856369;12408966;12477932;12560483;15345777;15471871;15489334;15525939;15527963;15681610;15684425;16185088;16267050;16497732;16627869;16678110;16710414;16916647;17189264;17194708;21782046;7309716 440686 Q5TEC6 AC239798;AL109948;NG_012783 CAI23568 MGC126031;p06 pseudo HGNC:32060 INFERRED 1349967 HIST2H3C histone cluster 2, H3c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Jul 2008] 1 1 1 q21.2 478 984 + 149812259 149812765 - 149840687 149841193 - 1580863;6480464;6907045 10384058;10464286;11073993;11080476;11242053;11509556;11689053;11818576;11856369;12408966;12419249;12477932;12482968;12560483;12628926;14657027;15010469;15269344;15345777;15471871;15489334;15525939;15527963;15620353;15681610;15684425;16096645;16185088;16189514;16265664;16267050;16362057;16415881;16497732;16603237;16627869;16678110;16710414;16916647;16959795;17179179;17189264;17194708;17274598;17353931;17643117;17643371;17687327;17687328;17938195;17967883;18059471;18066052;18079182;18082152;18381289;18404153;18451879;18452652;18500820;18533182;19041150;19061644;19187766;19363025;19411844;19483677;19738201;19818718;20581860;20639865;20929775;20972266;21251613;21278419;21443952;21489993;21495674;21575637;21633354;21658950;21666677;21666679;21668587;21678921;21689637;21704408;21720545;21724829;21725360;21726816;21890473;21906983;21963094;21987572;22081016;22100137;22100450;22118674;22195965;22231400;22247551;22266653;22294699;22334663;22373577;22379092;22379099;22387026;22505724;22623428;22837395;23000965;23022729;23349634;23463506;24013172;24714598;24816145;3013246;6494913;7309716;8814229;9439656;9566873 126961 Q71DI3 ABBA01049309;AC239868;AF531307;AL591493;BC015544;BC074969;BC130635;BC130637;NM_021059 AAH74969;AAI30636;AAI30638;AAI48479;AAI53075;AAN39283;CAI12561;NP_066403;Q71DI3 Hs.647745;Hs.706618 2110453;2159519;2220438 HIST2H2AA__3118;RH69022;UniSTS:482157 H3;H3.2;H3/M;H3F2;H3FM;H3FN;HIST2H3A;HIST2H3D;MGC9629 H3 histone family, member M;H3 histone, family 2;OTTHUMP00000014041;histone 2, H3c;histone H3.2;histone H3/m;histone H3/o APPROVED protein-coding HGNC:20503 11822 142780 REVIEWED 1346198 HIST2H4A histone cluster 2, H4a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Jul 2008] 1 1 1 q21.2 8625 9020 - 149804170 149806197 + 149832657 149833052 + 6480464;6907045 10022855;10096020;10926844;11080476;11163245;11498536;11689053;11790298;11799066;12072557;12408966;12477932;12489984;12556504;12628926;12861021;14578449;14595808;14657027;14731392;14993289;15010469;15161933;15345777;15527963;15664198;15823041;16096645;16782091;16917504;17179179;17190600;17426288;17540172;17620599;17687327;17884155;18026117;18082152;18500820;19234465;19596686;19738201;20855524;21110914;21145461;21164480;21443952;21693764;21800051;21907836;21994445;22052904;22145905;22195965;22268729;22505724;22623428;23377543;24239288;24816145;25015289;2843516;3035717;6314274;6494913;7675449;8598932;8814229;9325046;9427644;9439656;9566873;9651585 8370 B2R4R0;P62805 ABBA01049309;AC239868;AF525682;AL591493;BC019846;BC093969;BC108260;BC112193;CR542172;M16707;NM_003548;X00038 AAA52652;AAH93969;AAI12194;AAI46449;AAI53064;AAM83108;CAA24918;CAG46969;CAI12560;NP_003539;P62805 Hs.55468;Hs.655235;Hs.706635 2115331;2169126;2220604 D1S3163;RH66497;UniSTS:485772 FO108;H4;H4/n;H4F2;H4FN;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4;HIST2H4B;HIST4H4 H4 histone family, member N;H4 histone, family 2;histone 2, H4a;histone 2, h4;histone H4;histone IV, family 2 APPROVED protein-coding HGNC:4794 11821 142750 REVIEWED 1343698 HIST3H2BA histone cluster 3, H2ba, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 1 1 1 q42.13 201841812 201842190 - 228651917 228652295 - 228464216 228464594 - 6480464 12408966;20210993 337872 ABBA01005837;AL139288;AMYH02002845;AY131980;NG_002618 1671997 SHGC-76453 APPROVED pseudo HGNC:20515 INFERRED 1605451 HIST2H4B histone cluster 2, H4b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Jul 2008] 1 1 q21 149830749 149832776 - 149860764 149861159 - 6480464;6907045 10220385;12408966;12477932;12556504;14585971;14718166;15504738;15527963;15823041;15933069;16131487;16166375;17540172;17666011;18029348;18408754;18474616;19199708;19249677;19596686;19738201;19862764;19946888;20462248;21110914;21145461;21164480;21693764;21800051;21907836;22118674;22145905;22268729;22505724;22623428;24816145;25015289;3035717;6494913;9540062 554313 B2R4R0;P62805 ABBA01049309;AC239868;AL591493;BC019846;BC093969;BC108260;BC112193;CR542172;NM_001034077 AAH93969;AAI12194;ADR82736;ADR83444;CAG46969;CAI12567;NP_001029249;P62805 Hs.55468;Hs.655235;Hs.706635 1771226;2115331;2169126;2220604;5124235 D1S3163;RH66497;RH93503;SHGC-57126;UniSTS:485772 H4/o;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST4H4 histone 2, H4b;histone H4 APPROVED protein-coding HGNC:29607 REVIEWED 1312718 HIST3H2BB histone cluster 3, H2bb Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 201835703 201836154 + 228645808 228646259 + 228458107 228458558 + 1580863;6480464;6907045;8554872 10405893;10469656;11080476;11336697;11689053;12408966;12477932;12757711;14595808;14657027;14702039;14731392;15010469;15489334;15749019;16283522;16307923;16319397;16622419;16627869;16710414;16713563;16878981;16916647;18247557;18958350;19471022;19834552;19906922;20639865;21139048;21362549;21693764;21846774;21890473;21906983;21963094;21987572;22053931;22174317;22505724;23000965;24457600;24816145;8647104;9566873 128312 Q8N257 ABBA01005836;AK091220;AL139288;AMYH02002845;AY131981;BC100855;BC100856;BC100857;BC100858;BC137467;BC137468;CH471098;NM_175055 AAI00856;AAI00857;AAI00858;AAI00859;AAI37468;AAI37469;AAN59962;BAC03613;EAW69879;NP_778225;Q8N257 Hs.376691 1669267;1699276;1768285;1851858;2106499;2220400;2220450;5015619;5016478;5020946;5022578;5022649;5037552 D11S2875;D11S3114;D1S1423;D8S2279;G30966;GDB:434012;HIST3H2BB__6568;L17971;RH103220;RH68905;SHGC-76465;UniSTS:481460;UniSTS:482609 H2Bb H2B type 12;OTTHUMP00000037947;histone 3, H2bb;histone H2B type 3-B APPROVED protein-coding HGNC:20514 13661 615046 REVIEWED 1317808 HIST3H3 histone cluster 3, H3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is located separately from the other H3 genes that are in the histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 1 1 1 q42 201802501 201802981 - 228612546 228613026 - 228424845 228425325 - 1580863;6480464;6907045 10022855;10436156;10469656;10523658;10911985;10926844;11080476;11163245;11266453;11310559;11602260;11689053;11779497;11824786;11850410;11864602;11959841;12123582;12372304;12389038;12408966;12477932;12482968;12489984;12514135;12540855;12577067;12700765;12773393;12786946;12789342;14594813;14595808;14633678;14657027;14718166;14992727;14993289;15019994;15235609;15306854;15345777;15469825;15489334;15494311;15546622;15601853;15611041;15619633;15620353;15635413;15664198;15674330;15680324;15782174;15856011;15922600;16127177;16166375;16226712;16322561;16354694;16362057;16710414;16858404;17157298;17225856;17242207;17277772;17320048;17320162;17537733;17540172;17567753;17643117;17761849;17884155;17967883;18029348;18048344;18082620;18247557;18276832;18281699;18418385;18439419;18662994;19357306;19531475;19585526;19596686;19783980;19783983;20122409;20448663;20498094;20588255;20593489;20603326;20639865;20663916;20665636;20841431;20855524;20943666;20948546;20953165;20953179;20972266;20974918;21029866;21030982;21047797;21055984;21078963;21081666;21124902;21135039;21151131;21172665;21190999;21193919;21211722;21273441;21282530;21368055;21499270;21554500;21596310;21738951;21890473;21906983;21917293;21963094;21977994;21987572;22012064;22099308;22100450;22178446;22228774;22360506;22371497;22505724;22595675;22606318;22615488;22619169;22623428;22626555;22713676;22713874;22749909;22818287;22853951;22922742;22978410;22984491;23000965;23063713;23084401;23158102;23161542;23269674;23281010;23285239;23376398;23452851;23460923;23463506;23523318;23541084;23541585;23579270;23582659;23645696;23752590;23908241;23954330;24021213;24209620;24235145;24324728;24360965;24457600;24634510;24656132;24744315;24816145;24952159;25042802;3697355;8375396;8798650;8834248;8980232;8986613;9325046;9439656;9566873;9651585;9710638;9716497;9748265 8290 Q16695 ABBA01005836;AF531308;AK312217;AL139288;AMYH02002845;BC069079;BC101837;BC101839;CH471098;CR542013;NM_003493;Z49861 AAH69079;AAI01838;AAI01840;AAN39284;BAG35150;CAA90020;CAG46810;EAW69877;NP_003484;Q16695 Hs.248171 2107215;2220384;2220642 HIST3H3__6569;UniSTS:481043;UniSTS:486967 H3.4;H3/g;H3/t;H3FT;H3t;MGC126886;MGC126888 H3 histone family, member T;OTTHUMP00000037945;histone 3, H3;histone H3.1t APPROVED protein-coding ENSG00000168148 HGNC:4778 04156 602820 REVIEWED 1320935 HIST3H2A histone cluster 3, H2a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 201834960 201835455 - 228645065 228645560 - 228457364 228457859 - 6480464;6907045;8554872 11080476;11336697;11689053;12408966;12477932;12786946;14657027;15010469;15078818;15386022;15489334;15823041;16189514;16359901;16702407;16710414;19666485;20639865;20972266;21139048;21890473;21906983;21963094;21987572;22053931;22505724;22606318;22623428;22810585;23000965;24457600;24816145;9566873 92815 Q7L7L0 ABBA01005836;AK311930;AL139288;AMYH02002845;AY131974;BC001193;BC082269;CH471098;NM_033445 AAN59960;BAG34871;EAW69878;NP_254280;Q7L7L0 Hs.26331;Hs.732533 1669267;1699276;2106499;2220400;2220450 HIST3H2BB__6568;RH103220;RH68905;UniSTS:481460;UniSTS:482609 MGC3165 OTTHUMP00000037948;histone 3, H2a;histone H2A type 3 APPROVED protein-coding HGNC:20507 13660 615015 REVIEWED 1347918 HIVE1 human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1 3095 HGNC:4919 736425 HIVEP1 human immunodeficiency virus type I enhancer binding protein 1 This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011] 6 6 6 p24-p22.3 13240741 13393278 + 12012724 12212270 + 12012491 12229791 + 1580863;6480464;8554872 12477932;15231748;15302935;1567844;16169070;16196087;16582099;16713569;1694016;1727488;19615732;19721433;19732766;20226436;2037300;20734064;20936779;2106471;21078624;2108316;21890473;21903422;21906983;21963094;21988832;22488850;2248949;23975832;2504707;7650680;8289330 3096 C9J2N3;C9JAW2;C9JLG1;C9JZF8;C9JZV1;F5H212;H7BYU7;P15822 AA563642;ABBA01022110;ABBA01022111;ABBA01022112;AI033710;AK294338;AL137221;AL157373;AL391828;AMYH02013114;AMYH02013115;AMYH02013116;AY673640;BC028111;BC140816;CA430819;CH471087;J05011;KF458099;M32019;NM_002114;X51435;XM_005249042;XR_241895;Z98050 AAA17533;AAA17534;AAI40817;AAV85766;BAG57608;CAA35798;EAW55309;EAW55310;EAW55311;EAW55312;NP_002105;P15822;XP_005249099 Hs.567284 1671954;1683209;1768058;1795974;2121536;2132695;2156632;2174592;5022578;5024761;5037552;5093386 A009N36;D1S1423;D8S2279;G32688;HIVEP1_1282;RH35684;RH36905;RH93878;STS-AA036730;STS-X51435;WI-17879;WI-18783 CRYBP1;GAAP;HIV-EP1;MBP-1;PRDII-BF1;Schnurri-1;ZAS1;ZNF40;ZNF40A CIRIP;OTTHUMP00000016036;Zinc finger protein 40 (Human immunodeficiency virus type I enhancer-binding protein 1) (HIV-EP1) (Major histocompatibility complex binding protein 1) (MBP-1) (Positive regulatory domain II binding factor 1) (PRDII-BF1);cirhin interaction protein;gate keeper of apoptosis-activating protein;human immunodeficiency virus type I enhancer-binding protein 1;major histocompatibility complex binding protein 1;major histocompatibility complex-binding protein 1;positive regulatory domain II binding factor 1;positive regulatory domain II-binding factor 1;zinc finger protein 40 APPROVED protein-coding ENSG00000095951 HGNC:4920 01925 194540 VALIDATED 1346703 HIST4H4 histone cluster 4, H4 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. [provided by RefSeq, Jul 2008] 12 12 12 p12.3 20068629 20069040 - 14920933 14924093 - 14770720 14771131 - 6480464;6907045 10022855;10220385;10926844;11080476;11163245;11266453;11336697;11498536;11689053;11959841;12015309;12072557;12385581;12408966;12477932;12489984;12590135;12786946;12840145;14578449;14585971;14595808;14657027;14718166;14731392;14992727;15010469;15019994;15095300;15306854;15345777;15469825;15502823;15504738;15527963;15546622;15616580;15664198;15674325;15688035;15688037;15710329;15765097;15834423;15864311;15933069;15992539;16131487;16177192;16322561;16322686;16469925;16531610;16622419;16782888;17264152;17522015;17540172;17548343;17666011;17848202;18001726;18079182;18206973;18247557;18285460;18319261;18404153;18408754;18418072;18474616;18671804;18684714;18974389;19199708;19249677;19348949;19380743;19438744;19531475;19536143;19578722;19596686;19667075;19747413;19805290;19818714;19946888;20122409;20512922;20639865;20943666;20949922;20953179;21081666;21090589;21110914;21145461;21164480;21282530;21385873;21478274;21499270;21596310;21693764;21724829;21800051;21806967;21907836;21973049;22118674;22145905;22228774;22234250;22247551;22268729;22360506;22368283;22505724;22623428;22894908;23048028;23075851;23326349;23363600;23449627;23460923;24116224;24360965;24457600;24634510;24816145;25015289;3035717;8647104;9566873;9651585 121504 B2R4R0;P62805 ABBA01067884;AC010168;AMYH02026095;AY128653;AY648850;BC020884;CH471094;NM_175054 AAN01438;AAT68253;EAW96325;NP_778224;P62805 Hs.745457 2160559 G41309 H4/p;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;MGC24116 OTTHUMP00000239323;histone 4, H4;histone H4 APPROVED protein-coding HGNC:20510 13662 615069 REVIEWED 1322610 HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011] 1 1 1 p34 40258938 40666781 - 41972036 42501596 - 41506365 42035925 - 6480464;8554872 10997877;11161801;11329013;11804591;12477932;14702039;14707112;14999091;15627499;15790681;16196087;16344560;16728642;17388942;19913121;20379614;20628086;20732416;21189157;21524353;2247438;23178823;23500015;23897914 59269 Q5T1R4;Q99302 AB046775;ABBA01023141;ABBA01023142;ABBA01023143;ABBA01023144;ABBA01023145;ABBA01023146;ABBA01023147;AC105268;AC119676;AF278765;AF278766;AI082114;AI246631;AK122991;AL158216;AL356455;AL445933;AL451006;AMYH02000869;AMYH02000870;AMYH02000871;AMYH02000872;AMYH02000873;AMYH02000874;BC015242;BC040942;BC046120;BC062792;BC080552;BC152563;BG213993;CH471059;DA093318;KC876875;KF495924;M61743;NG_030026;NM_001127714;NM_024503;NR_038260;NR_038261;XM_006710808;XM_006710809;XR_426625 AAA36137;AAI52564;AAI72754;AAK01082;BAB13381;BAG53838;EAX07173;NP_001121186;NP_078779;Q5T1R4;XP_006710871;XP_006710872 Hs.403972;Hs.648369 1335501;1652106;1660530;1662300;1696142;1703432;1716357;1727749;1728409;1732898;1739577;1759437;1762129;1762477;1762545;1762913;1763139;1763153;1763155;1763553;1766297;1768801;1779790;1783084;1851209;1852299;2134809;2143507;2164209;2169915;2177999 AL009341;AL009403;D1S1313;D1S2645;D1S294E;D1S62;G19138;G63140;G63638;RH121356;RH64488;RH64713;RH79040;SHGC-146029;SHGC-146299;SHGC-146358;SHGC-146668;SHGC-146871;SHGC-146886;SHGC-146887;SHGC-147255;SHGC-149648;SHGC-150717;SHGC-153762;SHGC-154594;SHGC-33246;SHGC-68810;SHGC-74654;SHGC-74661;SHGC-74665;SHGC-79081 FLJ16752;KBP-1;KBP1;KIAA1555;KRC;SHN3;Schnurri-3;ZAS3;ZNF40C OTTHUMP00000007073;OTTHUMP00000007074;ZAS family, member 3;human immunodeficiency virus type I enhancer-binding protein 3;kappa-B and V(D)J recombination signal sequences-binding protein;kappa-binding protein 1;kappabinding protein-1;transcription factor HIVEP3;zinc finger protein ZAS3 APPROVED protein-coding ENSG00000127124 HGNC:13561 09442 606649 REVIEWED 2292108 HJURP Holliday junction recognition protein ENCODES a protein that exhibits histone binding; identical protein binding; INVOLVED IN CENP-A containing nucleosome assembly; chromosome segregation; regulation of DNA binding; PARTICIPATES IN histone modification pathway; FOUND IN chromosome, centromeric region; condensed chromosome kinetochore; cytoplasm; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 2 2 2 q37.1 228465901 228483632 - 234745486 234763212 - 233836701 233854566 - 6480464;9068945 23288364 12477932;16169070;16341674;16344560;16622419;17823411;18029348;19410544;19410545;20080577;20211017;20360068;21321101;21478274;21768289;21890473;21906983;21980305;22406139;22505724;23000965;23178171;23184928;23292286;23638004;23752268;23771058;24039914;24519934;24778252;24816145 55355 C9JWC4;F8WCV1;H7C0I6;H7C3V8;Q8NCD3 AB101211;AB162218;ABBA01001951;AC005538;AK074809;AK301643;AK303109;AL162048;AMYH02006011;BC001940;BE535238;BM148072;BM475244;BM838206;BQ225710;CA441903;CF619091;CH471063;DB022872;DB319863;DN998761;NM_001282962;NM_001282963;NM_018410 AAH01940;BAC11221;BAD36741;BAF82039;BAG63122;BAG64216;CAB82391;EAW71064;EAW71065;NP_001269891;NP_001269892;NP_060880;Q8NCD3 Hs.532968 1667849;1802084;1802200;1802692;1802744;1804086;1804214;1804718;1805292;1806282;1806838;1806976;1814440;1818172;1818316;1820080;1820306;1823828;1823884;1825930;1830018;1840176;1842740;1843760;1949566;1949568;1949570;1949572;1949574;1949576;1949578;1949580;1949582;1949584;1949586;1949588;1949590;1949592;1949594;1949596;1949598;1949600;1949602;1949604;1949606;1949608;1949610;1949612;1949614;1949616;1949618;1949620;1949622;1949624;1949626;1949628;1949630;1949632;1949634;1949636;1949638;1949640;1949642;1949644;1949646;1949648;1949650;1949652;1949654;1949656;1949658;1949660;1949662;1949664;1949666;1949668;1949670;1949672;1949674;1949676;1949678;1949680;1949682;1949684;1949686;1949688;1949690;1949692;1949694;1949696;1949698;1949700;1949702;1949704;1949706;1949708;1949710;1949712;1949714;1949716;1949718;1949720;1949722;1949724;1949726;2201492;2201494;2201496;2201498;2201500;2201502;2201504;2201506;2201508;2201510;2201512;2201514;2201516;2201518;2201520;5037552 D8S2279;ECD01923;ECD01983;ECD02233;ECD02259;ECD02960;ECD03029;ECD03291;ECD03592;ECD04096;ECD04384;ECD04453;ECD08249;ECD10143;ECD10215;ECD11113;ECD11228;ECD13006;ECD13035;ECD14074;ECD16142;ECD21272;ECD22577;ECD23091;REN45631;REN45632;REN45633;REN45634;REN45635;REN45636;REN45637;REN45638;REN45639;REN45640;REN45641;REN45642;REN45643;REN45644;REN45645;REN45646;REN45647;REN45648;REN45649;REN45650;REN45651;REN45652;REN45653;REN45654;REN45655;REN45656;REN45657;REN45658;REN45659;REN45660;REN45661;REN45662;REN45663;REN45664;REN45665;REN45666;REN45667;REN45668;REN45669;REN45670;REN45671;REN45672;REN45673;REN45674;REN45675;REN45676;REN45677;REN45678;REN45679;REN45680;REN45681;REN45682;REN45683;REN45684;REN45685;REN45686;REN45687;REN45688;REN45689;REN45690;REN45691;REN45692;REN45693;REN45694;REN45695;REN45696;REN45697;REN45698;REN45699;REN45700;REN45701;REN45702;REN45703;REN45704;REN45705;REN45706;REN45707;REN45708;REN45709;REN45710;REN45711;SHGC-33393;stSG620195;stSG620196;stSG620197;stSG620198;stSG620199;stSG620200;stSG620201;stSG620202;stSG620203;stSG620204;stSG620205;stSG620206;stSG620207;stSG620208;stSG620209 DKFZp762E1312;FAKTS;URLC9;hFLEG1 14-3-3-associated AKT substrate;OTTHUMP00000065202;OTTHUMP00000065203;fetal liver expressing gene 1;fetal liver-expressing gene 1 protein;up-regulated in lung cancer 9 protein-coding ENSG00000123485 HGNC:25444 612667 VALIDATED 734342 HIVEP2 human immunodeficiency virus type I enhancer binding protein 2 This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012] 6 6 6 q23-q24 143813124 144006743 - 143072604 143267495 - 142751467 142946358 - 1580863;6480464;8554872 10207097;10642512;12173742;12477932;1409593;14574404;16344560;1733857;17370265;17549794;18985028;19615732;2022670;20936779;21822216;21890473;21906983;22294689;2247438;24105470;8889549 3097 P31629;Q38G99 AA041301;AA465317;ABBA01025756;ABBA01025757;AF153836;AK226163;AK296531;AL023584;AL355304;AL355307;AMYH02014630;AMYH02014631;AW197846;BC032679;CH471051;CR936782;DA216380;DQ231041;KF458301;KF458303;M60119;M61744;NM_006734;X65644;XM_005266957 AAA36202;AAB88218;AAF81365;AAI67801;ABB16331;BAG59161;CAA46596;EAW47873;NP_006725;P31629;XP_005267014 Hs.510172 1336970;1671369;1703602;1706552;1723605;1770273;1795976;2114363;2127224;2133303;2172089;2180183;5107215 D6S1055;D6S970;G31022;G31050;G66161;HIVEP2_982;RH119728;RH1537;RH78408;SHGC-12723;SHGC-78688;SHGC-81252;WI-19236 HIV-EP2;MBP-2;MIBP1;SHN2;ZAS2;ZNF40B MHC binding protein-2;MHC-binding protein 2;OTTHUMP00000017321;OTTHUMP00000017322;Schnurri-2;c-myc intron binding protein 1;c-myc intron-binding protein 1;human immunodeficiency virus type 1 enhancer-binding protein 2;human immunodeficiency virus type I enhancer-binding protein 2;transcription factor HIVEP2 APPROVED protein-coding ENSG00000010818 HGNC:4921 00881 143054 REVIEWED 737450 HK1 hexokinase 1 Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein. [provided by RefSeq, Apr 2009] 10 10 10 q22 64305609 64438051 + 71029740 71161638 + 69269984 69401882 + 1601527;1601519;1300048;2302804;2302784;2302851;6480464;6484113;6907045;7240710;8554872;8699517 131232;4353083;7655856;8255543;9540816 10356311;10574795;10686099;10978502;12393545;12432216;12477932;14702039;15164054;15489334;1572668;16027165;16166083;16169070;16344560;1637300;16385451;17080299;17494625;18029348;18212354;18308720;18781797;19034380;19049977;19096518;19165527;19536174;19554504;19608687;19651813;1985912;19862010;20139978;20186120;20347420;20379614;20562859;2059200;20732627;20858683;20877624;21139048;21179577;21319273;21781351;21832049;21853274;21890473;21906983;22018957;22304920;22586326;22863883;2297576;22978647;22990118;23000965;23068103;23125841;23164509;23222517;23427181;23503661;23859901;23874603;23903356;23996628;24583282;24654937;24797263;24816145;25027693;3207429;6848140;8420959;8706938;8720117;8722688;9028305;9414310;9450953;9493266;9531504;9735292 3098 A8K7J7;B1AR61;B1AR62;B1AR63;B3KXY9;E7ENR4;P19367;P78542;Q59FD4 AB209526;ABBA01019606;ABBA01019607;AC016821;AF016349;AF016365;AF029305;AF029306;AF073786;AF163908;AF163909;AF163910;AF163911;AF163912;AF163913;AK091267;AK128226;AK292012;AK294428;AK309904;AL596223;AL672126;AMYH02023270;AMYH02023271;BC008730;BX406321;CH471083;DB088955;M75126;NG_012077;NM_000188;NM_033496;NM_033497;NM_033498;NM_033500;U38226;U38227;U38228;X66957;XM_005269735;XM_005269736;XM_005269737 AAA52646;AAB40527;AAB40528;AAB40529;AAC00172;AAC00173;AAC15862;AAC15863;AAC25424;AAF82319;AAF82320;AAH08730;ABM84207;ABM87761;BAD92763;BAF84701;BAG52321;BAG54651;BAG57673;CAA47379;EAW54319;EAW54320;EAW54321;EAW54322;EAW54323;NP_000179;NP_277031;NP_277032;NP_277033;NP_277035;P19367;XP_005269792;XP_005269793;XP_005269794 Hs.370365 1658326;1671646;1679189;1741671;1779508;2109389;2120588 GDB:181720;HK1__6571;RH80106;SHGC-153484;SHGC-35892;STS-M75126;STS-W37533 HK I;HK1-ta;HK1-tb;HK1-tc;HKD;HKI;HMSNR;HXK1 OTTHUMP00000019725;brain form hexokinase;glycolytic enzyme;hexokinase type I;hexokinase-1 APPROVED protein-coding ENSG00000156515 HGNC:4922 00809 142600;235700;605285 REVIEWED 1351995 HK2P1 hexokinase 2 pseudogene 1 INTERACTS WITH all-trans-retinoic acid; dioxygen; N-acetyl-beta-D-glucosamine X X X q21.1 80065052 80070664 - 79824933 79830537 - 80569434 80575038 - 6480464 7590357;7999069 642546 ABBA01049124;AL512504;AMYH02039843;NG_009860;U28387 1678889;1744305 GDB:451610;RH65294 HK2P APPROVED pseudo HGNC:4924 INFERRED 733090 HK2 hexokinase 2 Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009] 2 2 2 p13 74890867 74951557 + 75059782 75120481 + 74832655 74893354 + 1580863;1624365;632917;1300048;2302784;2313227;2313229;6480464;6484113;6907045;8554872 11319725;16555472;7622509;7813813;9540816 11068878;11688991;12477932;12663490;14672622;14747281;15489334;15710218;15967114;16189514;16396496;16551620;16712791;16713569;16751776;17785433;18271924;18350175;18535403;18579725;18772588;19003546;19033437;19049977;19322201;19554504;19558793;19579598;19681047;19723875;19770592;19946888;20159966;20346347;20347420;20453422;20845004;20845477;20846459;20877624;20958264;20972266;21139048;21242296;21252943;21279699;21411499;21600799;21726646;21906983;21909686;22087292;22174317;22230325;22268729;22334075;22354042;22398711;22469988;22593586;22623428;22691140;22825642;22863883;22901702;22939629;23000965;23071593;23123787;23185017;23349798;23500080;23503661;23629924;23862649;23869589;23874603;23962723;24033605;24051093;24136222;24363061;24390321;24797263;24816145;25027693;7518342;7883120;7883122;7883123;8250948;8307259;8567628;8786021;8889548;9056853;9278438;9447955 3099 E9PB90;P52789 ABBA01075615;ABBA01075616;AC019069;AC104135;AF086198;AF148513;AI085541;AI278414;AK290357;AMYH02004094;AW134604;AY623118;BC021116;BC064369;BM706373;BM912287;CB160837;CH471053;CR749202;D25412;HB877664;HC935073;NM_000189;XM_005264280;Z46354;Z46360 AAD30174;AAH21116;AAH64369;AAT38114;AAX93084;AAY24209;ABM86696;ABW03812;BAA04999;BAF83046;CAA86476;CAA86482;CAH18060;CBF63160;CBU88036;EAW99601;EAW99602;EAW99603;NP_000180;P52789;XP_005264337 Hs.406266;Hs.591588 1678889;1713273;1743147;1744305;1745655;1771702;2109391;2144483 D2S2601;GDB:271353;GDB:451610;GDB:631172;HK2_8401;RH120627;RH65294;SHGC-57291 DKFZp686M1669;HK II;HKII;HXK2 OTTHUMP00000160433;OTTHUMP00000202738;hexokinase type II;hexokinase-2;hexokinase-2, muscle;muscle form hexokinase APPROVED protein-coding ENSG00000159399 HGNC:4923 03080 601125 REVIEWED 736939 HK3 hexokinase 3 (white cell) Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009] 5 5 5 q35.2 172175889 172194352 + 176307870 176326333 - 176880869 176899332 - 1580863;1300048;2302784;6480464;6907045;8554872 9540816 11068878;1190733;12477932;12488461;12543931;17868400;19448621;19554504;20877624;21072205;21988832;22498738;24584857;4058069;7150652;8717435;8812439;8941369;9468341 3101 H0Y8U9;H0Y9N6;H0YAG4;P52790 AB208951;ABBA01033478;AC027318;AMYH02012819;BC028129;BX644742;CH471195;L37749;NM_002115;U42303;U51333 AAB03512;AAC50422;AAC50732;AAH28129;ABM82004;ABM85186;BAD92188;EAW85047;EAW85048;EAW85049;NP_002106;P52790 Hs.411695 1705604;1785794;1848726;2128095;5024541;5491788 D1S3688;HK3;SHGC-83912;SHGC-85528;STS-R17757;WI-21074 HK III;HKIII;HXK3 ATP:D-hexose 6-phosphotransferase;OTTHUMP00000161447;hexokinase 3;hexokinase type III;hexokinase-3 APPROVED protein-coding ENSG00000160883 HGNC:4925 00806 142570 REVIEWED 1354446 HKDC1 hexokinase domain containing 1 ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN carbohydrate phosphorylation (inferred); hexose metabolic process (inferred); PARTICIPATES IN amino sugar metabolic pathway; fructose and mannose metabolic pathway; galactose metabolic pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine 10 10 10 q22.1 64255904 64303168 + 70980059 71027315 + 69220303 69267559 + 6480464;6907045;8554872 12477932;14702039;16385451;18029348;20379614;20732627;20800603;21906983;22632162;23438482;23903356 80201 B3KT70;Q2TB90 ABBA01019603;ABBA01019604;ABBA01019605;ABBA01019606;AK026414;AK095086;AK291024;AK303408;AL596223;AMYH02023269;AMYH02023270;BC012337;BC021278;BC069201;BC110504;BC110505;BX538078;CH471083;NM_025130 AAH12337;AAH21278;AAI10505;AAI10506;ADZ15969;BAB15478;BAF83713;BAG52982;BAG64461;CAD98002;EAW54317;EAW54318;NP_079406;Q2TB90 Hs.522988 1342058;1662939;1685409;1722293;2137650 D10S1672;D10S2178;G60060;RH91478;WI-11727 FLJ22761;FLJ37767;MGC125688 OTTHUMP00000019718;hexokinase domain-containing protein 1;putative hexokinase HKDC1 protein-coding ENSG00000156510 HGNC:23302 08006 VALIDATED 1344548 HKR1 HKR1, GLI-Kruppel zinc finger family member ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsane; arsenic atom; quercetin 19 19 19 q13.12 34626297 34656067 + 37825580 37855357 + 37334678 37364455 + 1580863;6480464 12477932;14702039;15489334;23602568;2850480;8125298;8812445;9813242 284459 F5H6A5;K7EJS1;K7EL05;K7EL22;K7EL36;K7EM51;K7EME6;K7EMG8;K7EMJ9;K7ENA5;K7EPW3;K7EQG8;K7ERA5;K7ES32;K7ES64;P10072;Q7Z6E1 AB013897;ABBA01040620;ABBA01040621;ABBA01040622;ABBA01040623;AC008806;AC016590;AK056243;AK128116;AK223616;AK299969;AK301601;AK307852;AMYH02036039;AMYH02036040;BC004513;BC010024;BC017256;BC053845;CH471126;KC877733;M20675;NM_181786 AAH04513;AAH17256;AAH53845;BAA86058;BAD97336;BAG51656;BAG61795;BAG63089;EAW56721;EAW56722;EAW56723;EAW56724;EAW56725;EAW56726;NP_861451;P10072 Hs.657027;Hs.729090 2182735;5017655;5022578;5024039;5037552 D16S325;D1S1423;D8S2279;HKR1;RH15944 ZNF875 GLI-Kruppel family member HKR1;Krueppel-related zinc finger protein 1;oncogene HKR1;zinc finger protein 875 APPROVED protein-coding ENSG00000181666 HGNC:4928 01314 165250 PROVISIONAL 1343149 HLA-C major histocompatibility complex, class I, C HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008] 6 6 6 p21.3 32835242 32838561 - 31236526 31239913 - 31268749 31272136 - 1580863;6480464;6907045;7240710;8554872 10090622;10190900;10323347;10366557;10372547;10395103;10395115;10429675;10488744;10497191;10546855;1055432;10647885;10684310;10703619;10707087;10715516;10799863;10809759;10820396;10850706;10885573;10898498;10912513;10954160;10982373;11009104;11053636;11061291;11064107;11120862;11122018;11144289;11163076;11169240;11169242;11169245;11172020;11181188;11182228;11222331;11289809;11323700;11348465;11390038;11390039;11390610;11463741;11543892;11543893;11543903;11574100;11578695;11696223;11751963;11841366;11861287;11875053;11888582;11904677;11927505;11932387;11967296;11972879;11972880;11984513;12010826;12011375;12022360;12028535;12039411;12072195;12100686;12107410;12115024;12148091;12195346;12296785;12352262;12372094;12392856;12414957;12427289;12445315;12445319;12454284;12472657;12472658;12477932;12492817;12505198;12526811;12574356;12574360;12588373;12590984;12594841;12619017;12622774;12648281;12651075;12665835;12709815;12730526;12734410;12753667;12774051;12776912;12794140;12825172;12836198;12853576;12857887;12870022;12899833;12941076;12956875;12962836;12975536;1316930;1317015;1383381;1384166;14501786;14501803;14527733;14551034;14581545;14595379;14617038;14617049;14626512;14674935;14675183;14700599;14705982;14705987;14716759;14719207;14727382;14965316;15009803;15009808;15057902;15061705;15072129;15078178;15086350;15122136;15124939;15128924;15140030;15140038;15191522;15191523;15191952;15211110;15214895;15220037;15239092;15245373;15245377;15245541;15251317;15297676;15300630;15301865;15304010;15307871;15310528;15316337;15321756;15323271;15361135;15480178;15496201;15523160;15534563;15535834;15539411;15546341;15554365;15603879;15638726;15639927;15650879;15654959;15654960;15662734;15683420;15737195;15743917;15751651;15807454;15848982;15853898;15854032;15896208;15896209;15940053;15943912;15953084;15982258;15982262;1598685;16019679;16026588;16029332;16029431;16086295;16091223;16097034;16101836;16103458;16129034;16185272;16185325;16185849;16196087;16215732;16216678;16235096;16267409;16272310;16272320;16281939;16284396;16297191;16313304;16331510;16331567;16339849;16365741;16405603;16439971;16441500;16451198;16455884;16459714;16489264;16490887;16532020;16532100;16571411;16609350;16634885;16642438;16702430;16720212;16720218;16774550;16788244;16829306;16857416;16866883;16868077;16890179;16922942;16929347;16947780;17021767;17026471;17029201;17062033;17082605;17085834;17092264;17101473;17106278;1711567;17117954;17166285;17170457;17197830;17207712;17212710;17223660;17234427;17252545;17258541;17309450;17311253;17317585;17340018;17373939;17378697;17383044;17388919;17389029;17392574;17407088;17462511;17462512;17471440;17480220;17489060;17491685;17498269;17504510;17509453;17523949;17530646;17554059;17573956;17578051;17581864;17586321;17597093;17598037;17604825;17604883;17617375;17632197;17632570;17641165;17652849;17661908;17666781;17714418;17726164;17728335;17785583;17868255;17869653;17878941;17878955;17900288;17909631;17911430;17927716;17939409;17950922;17956696;17964196;17971052;17971053;17990989;17997746;18005090;18005680;18005690;18057255;18064508;18069932;18070207;18074415;18075513;18082573;18083706;18086267;18086268;18091530;18097038;18186800;18219280;18263639;18289678;18296443;18297378;18301962;18309376;18315912;18329312;18332066;18340360;18347914;18364390;18364739;18369457;18369459;18381784;18385790;18396213;18420581;18434400;18438604;18451182;18464913;18486765;18496418;18515573;18521626;18523244;18543232;18544086;18566368;18571006;18580606;18585007;18596105;18627572;18643961;18653452;18671674;18672082;18673537;18684953;18702622;18725938;18768435;18778326;18782112;18800148;18808677;18848853;18852273;18922348;18958335;18976432;18976440;18982067;18987136;18997170;19000140;19019964;19023492;19032228;19046302;19050382;19054371;19096254;19104471;19115949;19120281;19143812;19143818;19149577;19159415;19169253;19169254;19169284;19180512;19181658;19184033;19196481;19200828;19200845;19214504;19227412;19232441;19242058;19246116;19262574;19275586;19276793;19299434;19326408;19349081;19350523;19364514;19392983;19407364;19409091;19449444;19480679;19480851;19487887;19493232;19493233;19525279;19539218;19544559;19549379;19552960;19555986;19571811;19574026;19589487;19620980;19630074;19631389;19643141;19653987;19654407;19654877;19656140;19663693;19663932;19667963;19668019;19680446;19683555;19693088;19694795;19703234;19720873;19728333;19744147;19758198;19762282;19770068;19774073;19776241;19789864;19830740;19843037;19845915;19845952;19846535;19847956;19850842;19851445;19861144;19874367;19896518;19898503;19907433;19912639;19924143;19925877;19931565;19932885;19934297;19935663;19936734;19956635;19968064;20003137;2000377;20012522;20012528;20016497;20041166;20056126;20073992;20077564;20082482;20082621;20090103;20097244;20137308;20145915;20169624;20173784;20173792;20193031;20200544;20210918;20210919;20219611;20224785;20230525;20235791;20237496;20331378;20334121;20335219;20347497;20356536;20380698;20385791;20416195;20426625;20456039;20462405;20463068;20466636;20483367;20492592;20492596;20492599;20504258;20512145;20519398;20526339;20536993;20547040;20549830;20559009;20561448;20574122;20580654;20587610;20594957;20595243;20600442;20604894;20608062;20613458;20626025;20637045;20643584;20652381;20660184;20668555;20678810;20684489;20702582;20713950;20739527;20798335;20857097;20923372;20931685;20935224;20937338;20953186;20953188;20953190;20970669;20972337;20974205;21049023;21051598;21059899;21068258;21084992;21107349;21134695;21165790;21179506;21209113;21248048;21352198;21373785;21410657;21412248;21482733;21482738;21543478;21585707;21625020;21658009;21699788;21712058;21726808;21732917;21738480;21762823;21778700;21797986;21860345;21861776;21890473;21896007;21906983;21909837;21912425;21912600;21920398;21931540;21958371;21963094;21985130;21987572;21988832;22035606;22069276;22074999;22099809;22103831;22103833;22103834;22113476;22125590;22175768;22185807;22190034;22194166;22219647;22251067;22268729;22301137;22301152;22319020;22321328;22474021;22493691;22503975;22505724;22509813;22510299;22512642;22537596;22548719;22553319;22569429;22586163;22651890;22678362;22705789;22767237;22772445;22803655;22807681;22826228;22844345;22923333;22931314;22931917;22958291;22980333;23028341;23042114;23128233;23144326;23177929;23184486;23200758;23246585;23289738;23330836;23362284;23390293;23398510;23417110;23462218;23490051;23521149;23536655;23559252;23563607;23588886;23798571;23817569;23817571;23838325;23847689;23853598;23901134;23935489;23974321;23990973;24006284;24023945;24041011;24046013;24162738;24227846;24248364;24324648;24349500;24408320;2450918;24554773;24654937;24778445;24816145;24818561;2708822;2714853;2715640;2787363;2789433;2843461;3032784;3485286;3863816;6585830;6591601;6609813;7482492;7499177;7539755;7621073;7650491;7677956;7760000;7839353;7860363;7871529;7897214;7905471;7913356;7957306;7983384;8084338;8493575;8612235;8613148;8617941;8655361;8671651;8692965;8769474;8795149;8877415;8883300;9008313;9052838;9089103;9098935;9104816;9120272;9153759;9158158;9177776;9190911;9211742;9234483;9263011;9293775;9373155;9373217;9378975;9435339;9455497;9459506;9459510;9464792;9521070;9551969;9582271;9586638;9601942;9672159;9686591;9686604;9698101;9751712;9754572;9768753;9840288;9894855;9894860 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Hs.656020;Hs.743218;Hs.77961 1337397;1337640;1338684;1735588;1772765;1774403;1792836;1852219;2166083;5020447;5114847 D6S1019;D6S1053;D6S1281;D6S2071;HUM000C210;HUM00TB019;PMC165225P2;RH70531;STS-M80468;WIAF-1551;stD6S1124E.1 D6S204;FLJ27082;HLA-Cw;HLA-Cw12;HLA-JY3;HLC-C;PSORS1 HLA class I antigen;HLA class I heavy chain;HLA class I histocompatibility antigen, C alpha chain;HLA class I histocompatibility antigen, Cw-1 alpha chain;HLA class I histocompatibility antigen, Cw-12 alpha chain;HLA class I histocompatibility antigen, Cw-14 alpha chain;HLA class I histocompatibility antigen, Cw-16 alpha chain;HLA class I histocompatibility antigen, Cw-17 alpha chain;HLA class I histocompatibility antigen, Cw-2 alpha chain;HLA class I histocompatibility antigen, Cw-4 alpha chain;HLA class I histocompatibility antigen, Cw-6 alpha chain;HLA class I histocompatibility antigen, Cw-7 alpha chain;HLA class I histocompatibility antigen, Cw-8 alpha chain;HLA-C (Cw*1201);HLA-Cw*050x;MHC class 1 antigen, alpha chain;MHC class I HLA-C;MHC class I HLA-Cw*0803;MHC class I antigen Cw*1;MHC class I antigen Cw*12;MHC class I antigen Cw*14;MHC class I antigen Cw*16;MHC class I antigen Cw*17;MHC class I antigen Cw*2;MHC class I antigen Cw*3;MHC class I antigen Cw*4;MHC class I antigen Cw*6;MHC class I antigen Cw*7;MHC class I antigen Cw*8;MHC class I antigen HLA-C;MHC class I antigen heavy chain HLA-C;MHC class I protein HLA-C heavy chain;OTTHUMP00000029213;OTTHUMP00000165154;OTTHUMP00000165155;class I MHC antigen HLA-B heavy chain;human leukocyte antigen-C alpha chain;leucocyte antigen C;leucocyte antigen Cw;leukocyte antigen-C alpha chain;major histocompatibility antigen HLA-C APPROVED protein-coding ENSG00000204525 HGNC:4933 00829 142840;177900;609423 REVIEWED 1349444 HLA-A major histocompatibility complex, class I, A HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. 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Hs.181244;Hs.713441 1661993;1676158;1681923;1770879;1786134;1786138;1794508;5019399;5020447;5024339;5126851 D6S1105E;PMC155279P1;PMC165225P1;PMC316580P5;RH66830;RH70531;RH80274;RH80801;SHGC-172558;SHGC-172574;WI-12714 Aw-68;Aw-69;FLJ26655;HLAA;aw-19;aw-24;aw-34;aw-36;aw-43;aw-66;aw-80 HLA class I histocompatibility antigen, A-1 alpha chain;HLA class I histocompatibility antigen, A-10 alpha chain;HLA class I histocompatibility antigen, A-23 alpha chain;HLA class I histocompatibility antigen, A-24 alpha chain;HLA class I histocompatibility antigen, A-25 alpha chain;HLA class I histocompatibility antigen, A-26 alpha chain;HLA class I histocompatibility antigen, A-28 alpha chain;HLA class I histocompatibility antigen, A-29 alpha chain;HLA class I histocompatibility antigen, A-31 alpha chain;HLA class I histocompatibility antigen, A-34 alpha chain;HLA class I histocompatibility antigen, A-36 alpha chain;HLA class I histocompatibility antigen, A-43 alpha chain;HLA class I histocompatibility antigen, A-66 alpha chain;HLA class I histocompatibility antigen, A-80 alpha chain;HLA class I histocompatibility antigen, A-9 alpha chain;MHC class I antigen A*1;MHC class I antigen A*11;MHC class I antigen A*2;MHC class I antigen A*23;MHC class I antigen A*24;MHC class I antigen A*25;MHC class I antigen A*26;MHC class I antigen A*29;MHC class I antigen A*3;MHC class I antigen A*31;MHC class I antigen A*32;MHC class I antigen A*34;MHC class I antigen A*36;MHC class I antigen A*43;MHC class I antigen A*66;MHC class I antigen A*68;MHC class I antigen A*69;MHC class I antigen A*80;MHC class I antigen HLA-A heavy chain;MHC leukocyte antigen;OTTHUMP00000161059;OTTHUMP00000161060;antigen presenting molecule;leucocyte antigen A;leucocyte antigen class I;leukocyte antigen class I-A 1643399 BMD5_H APPROVED protein-coding ENSG00000206503 HGNC:4931 00826 142800;608579 REVIEWED 1346716 HLA-DMA major histocompatibility complex, class II, DM alpha HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34465294 34469805 - 32916391 32920900 - 32948614 32953122 - 1582700;1580863;6480464;6907045 10375868 10322421;10631952;10661406;10716924;10729169;11048639;11070170;11118314;11168931;11180452;11337467;11441095;11593029;11739502;11743588;11775239;11827988;11881821;11956296;12392850;12427289;12477932;12648225;12663675;12728471;12742663;12786997;12794545;12836198;12858445;12928384;12970439;14754527;15078178;15194762;15489916;15547082;15547089;15723810;16091223;16354571;16435885;16454711;16737583;16864101;17015729;17652306;17959659;18348411;1869305;18779172;18945465;19115949;19149577;1922365;1922385;19449444;19620308;1967269;19770068;1978941;19851445;19913121;19946888;20012522;20237496;20408893;20628086;21059907;21778700;21922073;21988832;22103833;22103834;22175768;22309257;22498736;22860026;23260142;2543930;2846691;3489470;7512597;7541827;7602119;8026867;8034636;8084338;8139690;8168144;8225438;8376762;8568858;8574855;8849454;8890155;8947036;9079699;9311912;9371817;9551909;9759843;9768757;9879837 3108 A2AAT8;F6S093;H0Y732;P28067;Q31604;Q5SP00;Q6ICR9 AA649861;ABBA01038136;AK291858;AL645941;AL662845;AL935042;AMYH02013475;AU100342;BC011447;BC026279;BX088556;BX908719;CH471081;CR450324;CR752645;CR759798;CR936913;NG_012006;NM_006120;U04877;U04878;X62744;X76775;X87344 AAA56993;AAA56994;AAH11447;AAH26279;ABM83765;ABM87085;BAF84547;CAA44606;CAA54169;CAA54170;CAA60781;CAG29320;EAX03658;EAX03659;EAX03660;NP_006111;P28067 Hs.728759 1774130;2106361 D6S1868;D6S2763 D6S222E;DMA;HLADM;RING6 HLA class II histocompatibility antigen, DM alpha chain;MHC class II antigen DMA;OTTHUMP00000029242;OTTHUMP00000178727;OTTHUMP00000178728;OTTHUMP00000178729;class II histocompatibility antigen, M alpha chain;really interesting new gene 6 protein APPROVED protein-coding ENSG00000204257 HGNC:4934 00830 142855 REVIEWED 1349438 HLA-DMB major histocompatibility complex, class II, DM beta HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34451309 34457750 - 32902406 32908847 - 32934629 32941070 - 1582700;1580863;6480464;6907045 10375868 10209506;10322421;10519369;10631952;10661406;10716924;10729169;10885572;11048639;11118314;11168931;11441095;11591653;11593029;11743588;11775239;11827988;11881821;11956296;12392850;12427289;12477932;12648225;12663675;12742663;12786997;12836198;12858445;12932352;12970439;14754527;15078178;15194762;15489334;15489916;15547082;15547089;15787724;16091223;16335952;16354571;16454711;16737583;16864101;17015729;17652306;17959659;18348411;18506881;1869305;18779172;18945465;19047092;19149577;1922365;19449444;19620308;1967269;19767569;19770068;1978941;19851445;19913121;20012522;20038641;20237496;20408893;20628086;21622867;21778700;21922073;21988832;22103833;22103834;22175768;22309257;22860026;23260142;2543930;2846691;3489470;7512597;7528727;7541827;7602119;7648393;8034636;8084338;8139689;8139690;8168144;8225438;8376762;8406617;8568858;8574855;8757605;8849454;8890155;8920889;8947036;9079699;9157091;9311912;9371817;9551909;9759843;9768757;9879837 3109 E9PD01;H0Y4B8;H0Y7A2;P28068 AB209577;AB362554;AB362555;AB362556;ABBA01038135;ABBA01038136;AF004827;AF072680;AF134890;AK295872;AK315979;AL645941;AL662845;AL935042;AMYH02013475;AY645722;AY972536;BC017508;BC027175;BC035650;BX088556;BX927138;CD742571;CH471081;CR407606;CR752645;CR759798;CR936913;DC389968;EL948395;NM_002118;U00700;U15085;U16762;U31743;U32663;X76776;X87344;Z23139 AAA03296;AAB60387;AAB61609;AAC26112;AAC50514;AAC50515;AAC50517;AAD30279;AAH27175;AAV97947;AAX84974;ABM82067;ABM85246;BAD92814;BAF81534;BAF81535;BAF81536;BAG58670;BAH14350;CAA54171;CAA60782;CAA80670;CAG28534;EAX03657;NP_002109;P28068 Hs.351279 1647627;1756801;1757105;1770569;1794504 D6S2091;PMC316580P3;RH12803;SHGC-143932;SHGC-144492 D6S221E;RING7 HLA class II histocompatibility antigen, DM beta chain;MHC class II HLA-DMB;MHC class II antigen DMB;MHC class II antigen HLA-DM beta chain;OTTHUMP00000029257;OTTHUMP00000178732;class II histocompatibility antigen, M beta chain;really interesting new gene 7 protein APPROVED protein-coding ENSG00000242574 HGNC:4935 00831 142856 REVIEWED 1346079 HLA-DOB major histocompatibility complex, class II, DO beta HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34329595 34333880 - 32780540 32784825 - 32812763 32817048 - 1580863;6480464;6907045;8554872 10661406;10729169;11048639;11118314;11593029;11823510;11827988;12427289;12439622;12445321;12477932;12836198;12970439;1453454;15078178;15194762;15265882;15489334;15489916;15730525;15847654;16091223;16354571;16454711;17652306;17959659;1869305;18945465;19149577;19449444;19620308;1967269;19770068;1978941;19851445;20012522;20237496;20379614;21778700;21922073;22103833;22103834;22175768;22446962;22860026;23222639;23266558;23400868;2499532;2543930;2846691;2998758;3036827;3489470;7512597;7541827;7602119;8084338;8168144;8376762;8458375;8568858;8890155;9079699;9088974;9311912;9759843 3112 E9PI00;H0Y4X4;P13765;Q5QNS2 AB035249;ABBA01038131;ABBA01038132;AK301415;AK316197;AL669918;AL671681;AMYH02013475;AY645723;BC006097;BC020226;BM152694;BQ010608;BX296564;CH471081;CR541811;CR541832;CR762476;CR788227;CT009502;L29472;M26040;NG_009793;NG_012008;NM_002120;X03066;X66401;X87344 AAA59717;AAA59718;AAH06097;AAV97948;BAH13478;BAH14568;CAA26870;CAA47028;CAA60789;CAG46610;CAG46631;EAX03638;EAX03639;EAX03640;EAX03641;NP_002111;P13765 Hs.1802 1648969;2156461;2217426;5022767 D6S2093;DOB;ELA-DOB;HLA-DOB_3383 DOB;FLJ57033 HLA class II histocompatibility antigen, DO beta chain;MHC class II antigen DOB;OTTHUMP00000029312 APPROVED protein-coding ENSG00000241106 HGNC:4937 08368 600629 REVIEWED 1342704 HLA-DOA major histocompatibility complex, class II, DO alpha HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34520840 34526270 - 32971959 32977389 - 33004182 33009612 - 1580863;6480464;6907045 10323340;10661406;10729169;11048639;11118314;11593029;11827988;12427289;12439622;12477932;12836198;12970439;14574404;15078178;15194762;15265882;15489334;15489916;15817706;15847654;16091223;16101837;16354571;16454711;16806233;17652306;17959659;18639552;1869305;18945465;18976975;19149577;19449444;19458622;19620308;1967269;19741715;19770068;1978941;19851445;19913121;1999352;20012522;20237496;20628086;21059907;21778700;21804548;21922073;22103833;22103834;22139419;22175768;22733780;22860026;23222639;2370084;23740775;24024966;24384427;2499532;2543930;2846691;2991382;3000765;3489470;7512597;7541827;7602119;8084338;8168144;8376762;8890155;9079699;9088974;9311912 3111 B4DW77;F6WU08;P06340;X5CF87 AB005991;AB005992;AB005993;AB005994;AB005995;AB005996;AB005997;AB005998;ABBA01038137;AJ420585;AK290714;AK301404;AK310153;AK313551;AL645931;AL662845;AL805913;AMYH02013475;AY947479;AY947480;AY947481;AY947482;BC013183;BX005422;CH471081;CR759795;CR759829;CR936909;M26039;M29335;M31525;M38054;M38056;NG_012007;NM_002119;X02882;XM_005249047;XM_005272804;XM_005274951;XM_005275106;XM_005275243;XM_005275383;XM_005275540;XM_006715076;XM_006725483;XM_006725697;XM_006725815;XM_006725906;XM_006725996;XM_006726086;Z81310 AAA35992;AAA36253;AAA59716;AAA60075;AAH13183;AAX49509;AAX49510;AAX49511;AAX49512;ABM81974;ABM85152;BAA81787;BAA81788;BAA81789;BAA81790;BAA81791;BAA81792;BAA81793;BAA81794;BAF83403;BAG36327;BAG62939;CAA26635;CAB03594;CAC70064;EAX03667;EAX03668;NP_002110;P06340;XP_005249104;XP_005272861;XP_005275008;XP_005275163;XP_005275300;XP_005275440;XP_005275597;XP_006715139;XP_006725546;XP_006725760;XP_006725878;XP_006725969;XP_006726059;XP_006726149 Hs.631991 1772249;1797686;1852117;2171693;2171695;2182997;2190307;5015619;5022649;5037552;5122666 A006I10;CGCb066;D11S2875;D11S3114;D6S1939;D8S2279;G20835;HLA-DOA_2011;RH46819;RH66832;WI-18569 HLA-DNA;HLA-DZA;HLADZ HLA class II histocompatibility antigen, DO alpha chain;HLA-D0-alpha;MHC DN-alpha;MHC DZ alpha;MHC class II antigen DOA;OTTHUMP00000029303;lymphocyte antigen;major histocompatibility complex, class II, DN alpha APPROVED protein-coding ENSG00000204252 HGNC:4936 00837 142930 REVIEWED 1344682 HLA-DPA2 major histocompatibility complex, class II, DP alpha 2 (pseudogene) 6 6 6 p21.32 34611805 34613470 - 33059259 33061091 - 33091482 33093314 - 6597088 646702 ABBA01038137;AL645931;AL662824;AL845446;AMYH02013477;BX120009;CR759795;CR759904;CR762479;CR847849;NG_009861;X01634 1756461;2106387;2161067 D6S2738;RH69064;SHGC-143467 HLA-DP2A pseudo HGNC:4939 INFERRED 1605730 HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34581565 34590149 - 33032346 33048555 - 33064569 33080778 - 6480651;6480648;6480649;6480464;6907045;8554872 12073072;7576003;8854084 10090623;10661406;10729169;10958363;11019928;11048639;11118314;11556979;11593029;11777970;11827988;12427289;12445315;12477932;12580031;12707403;12778461;12836198;12899833;12910711;12956878;12970439;15041165;15078178;15121303;15191952;15194762;15304007;15342556;15489916;15603877;15663751;15713216;16042197;16091223;16098233;16242130;16354571;16454711;16465617;17060025;17234427;17652306;17785583;17959659;18593440;1869305;18784467;18945465;19143812;19143818;19149577;19200828;19349983;19449444;19589487;19620308;1967269;19722042;19770068;1978941;19795399;19851445;19896518;19913121;20012522;20237496;20376809;20424227;20462405;20470845;20595243;20628086;20668555;21059907;21274863;21346778;21399633;21402545;21750111;21778700;21779181;21814517;21922073;22103833;22103834;22105689;22175768;22448225;22496224;22737229;22860026;22923493;23180272;23326374;23428460;23449268;23459078;23760081;23825586;24006435;24462895;2461352;25020231;2543930;2578218;2846691;2987832;2997750;3036829;3266023;3489470;6300884;6325928;6584734;7512597;7541827;7602119;7725312;7912458;8084338;8168144;8376762;8454872;8568247;8649448;8773319;8889548;9079699;9366419;9694359 3113 F6V115;H0Y6F8;J3KQ99;P20036;X5CKE2 AB209058;ABBA01038137;AF013767;AF015295;AF074847;AF074848;AF076284;AF076285;AF092049;AF098794;AF165160;AF346471;AK292709;AL645931;AL662824;AL805913;AMYH02013477;AY335522;AY335523;AY335524;AY335525;AY335526;AY335527;AY335528;AY335529;AY335530;AY335531;AY335532;AY335533;AY335534;AY335535;AY335536;AY335537;AY335538;AY335539;AY335540;AY335541;AY335542;AY335543;AY335544;AY375760;AY375761;AY375762;AY375763;AY375764;AY375765;AY375766;AY375767;AY375768;AY375769;AY375770;AY375771;AY375775;AY375780;AY375781;AY375787;AY375791;AY375827;AY375828;AY375829;AY375830;AY375831;AY375832;AY375833;AY375834;AY375835;AY375836;AY375837;AY375838;AY375839;AY375840;AY603382;AY603383;AY603384;AY603385;AY603386;AY618552;AY618553;AY650051;BC009956;BI553587;BP338039;BU687966;BX005422;BX120009;CD516536;CH471081;CR759795;CR759829;CR759904;CR762479;CR847849;DQ274060;DQ274061;K00514;M23903;M23904;M27487;NG_033241;NM_001242524;NM_001242525;NM_033554;U87556;X00457;X02228;X03100;X78199;X82393;X82394 AAA59786;AAA63220;AAB97110;AAC61669;AAC64233;AAC72845;AAD39684;AAD39685;AAD42927;AAD42928;AAD47826;AAF00051;AAH09956;AAK27152;AAQ84179;AAQ84180;AAQ84181;AAQ84182;AAQ84183;AAQ84184;AAQ84185;AAQ84186;AAQ84187;AAQ84188;AAQ84189;AAQ84190;AAQ84191;AAQ84192;AAQ84193;AAQ84194;AAQ84195;AAQ84196;AAQ84197;AAQ84198;AAQ84199;AAQ84200;AAQ84201;AAQ84202;AAQ84203;AAQ84204;AAQ84205;AAQ84206;AAQ84207;AAQ84208;AAQ84209;AAR01827;AAR01829;AAR01831;AAR01833;AAR01835;AAR01837;AAR01839;AAR01841;AAR01843;AAR01845;AAR01847;AAR01849;AAR01851;AAR01853;AAR01855;AAR01857;AAR01859;AAR01861;AAR01863;AAR01865;AAR01867;AAR01869;AAR01871;AAT39912;AAT39913;AAT39914;AAT39915;AAT39916;AAT67468;AAT92096;AAT92097;ABB88406;ABB88407;ABM84389;ABM87323;BAD92295;BAF85398;CAA25143;CAA26148;CAA26887;EAX03669;EAX03670;EAX03671;NP_001229453;NP_001229454;NP_291032;P20036 Hs.347270 1694498;2181674 RH121960;RH46610 DP(W3);DP(W4);HLA-DP1A;HLADP;HLASB;PLT1 HLA class II histocompatibility antigen, DP alpha 1 chain;HLA class II histocompatibility antigen, DP alpha chain;HLA-SB alpha chain;MHC class II DP3-alpha;MHC class II DPA1;MHC class II HLA-DPA1 antigen;MHC class II antigen;OTTHUMP00000029066;OTTHUMP00000029067;OTTHUMP00000178770;Primed lymphocyte test-1 APPROVED protein-coding ENSG00000231389 HGNC:4938 00835 142880 REVIEWED 1348324 HLA-DPA3 major histocompatibility complex, class II, DP alpha 3 (pseudogene) INTERACTS WITH cisplatin 6 6 6 p21.3 34653341 34653487 - 33098974 33099120 - 33131197 33131343 - 6480464 10452889 267013 ABBA01038137;AL031228;AL645940;AL662824;AL845446;AMYH02013479;BX120009;CR759733;CR847849;CT009497;NG_011547 dJ1033B10.14 pseudo HGNC:19393 INFERRED 1350878 HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) INTERACTS WITH (-)-cotinine; 3,3',4,4',5-pentachlorobiphenyl; beryllium sulfate 6 6 6 p21.3 34634661 34651257 + 33080293 33096890 + 33112516 33129113 + 6480464 12477932;18682748;19950302;20031603;20587610;21399633;23482656;23740775;23817570;3036829 3116 ABBA01038137;AK301188;AL645931;AL645940;AL662824;AL845446;AMYH02013477;AMYH02013478;AMYH02013479;BC017967;BX120009;CR759733;CR759795;CR847849;CR936877;CT009497;M23909;M23910;M23911;NR_001435 BAG62770 Hs.665450 1788438 fd13c04.x1 DP2B;DPB2;DPbeta2;HLA-DP2B pseudo ENSG00000224557 HGNC:4941 PROVISIONAL 1352836 HLA-B major histocompatibility complex, class I, B HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 32921554 32924897 - 31321649 31324989 - 31353872 31357212 - 1580863;6480464;6907045;7240710;7364873;7365120;7365097;7365119;7364924;7365111;7364930;7365121;7387285;7387273;7364916;7364917;7365094;7365112;7387278;7364942;7364915;7364920;7365106;7365108;7365110;7364918;7364926;7364874;7364876;7364913;7364921;7365098;7365090;7365118;7364872;7364875;7364941;7364877;7364914;7365093;7387221;7365095;7364788;7364939;8655904 10648455;11426025;11564593;12198697;12372094;12542204;12608042;12622781;12694583;14522093;15681796;15855027;16101830;16899524;1740315;1752149;18824733;18922348;19018717;19728932;22471616;2257626;22981956;23329888;23692434;23808178;23831258;2401095;24033735;2801857;2909230;3341436;7573371;8096501;8154628;8733445;8894996;9232451;9233694;9286277;9756436 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Hs.654404;Hs.77961 1735588;1772765;1774403;1792836;1794510;2127860;2151314;2166083;5019399;5117254;5126851;7183786;7188001 D6S1895;D6S2071;D6S276;D6S281;GDB:454124;HUM00TB019;PMC155279P1;PMC165225P1;PMC165225P2;PMC316580P6;STS-X55711;WIAF-1551;stD6S1124E.1 AS;Bw-45;Bw-48;Bw-56;Bw-58;HLA-B-5601;HLA-B-6701;HLA-B-7301;HLA-B27;HLA-B73;HLA-C;HLAB;HLAC;MGC111087;SPDA1;b'DT;bw-22;bw-4;bw-41;bw-44;bw-46;bw-52;bw-53;bw-54;bw-55;bw-57;bw-60 HLA class I histocompatibility antigen, B alpha chain;HLA class I histocompatibility antigen, B-12 alpha chain;HLA class I histocompatibility antigen, B-21 alpha chain;HLA class I histocompatibility antigen, B-45 alpha chain;HLA class I histocompatibility antigen, B-48 alpha chain;HLA class I histocompatibility antigen, B-5 alpha chain;HLA class I histocompatibility antigen, B-56 alpha chain;HLA class I histocompatibility antigen, B-59 alpha chain;HLA class I histocompatibility antigen, B-67 alpha chain;HLA class I histocompatibility antigen, B-7 alpha chain;HLA class I histocompatibility antigen, B-73 alpha chain;HLA class I histocompatibility antigen, B-8 alpha chain;HLA class I histocompatibility antigen, Cw-5 alpha chain;HLA-B alpha chain (HLA-B*7301);HLA-B*5901 antigen;HLA-Bw45 antigen;MHC Class I HLA heavy chain;MHC HLA-B cell surface glycoprotein;MHC HLA-B transmembrane glycoprotein;MHC class I antigen B*13;MHC class I antigen B*14;MHC class I antigen B*15;MHC class I antigen B*18;MHC class I antigen B*27;MHC class I antigen B*35;MHC class I antigen B*37;MHC class I antigen B*38;MHC class I antigen B*39;MHC class I antigen B*40;MHC class I antigen B*41;MHC class I antigen B*42;MHC class I antigen B*44;MHC class I antigen B*45;MHC class I antigen B*46;MHC class I antigen B*48;MHC class I antigen B*49;MHC class I antigen B*51;MHC class I antigen B*52;MHC class I antigen B*53;MHC class I antigen B*54;MHC class I antigen B*55;MHC class I antigen B*56;MHC class I antigen B*57;MHC class I antigen B*58;MHC class I antigen B*59;MHC class I antigen B*67;MHC class I antigen B*7;MHC class I antigen B*73;MHC class I antigen B*78;MHC class I antigen B*8;MHC class I antigen B*81;MHC class I antigen Cw*5;MHC class I antigen GN00104;MHC class I antigen HLA-B heavy chain;MHC class I antigen SHCHA;OTTHUMP00000029212;leukocyte antigen class I-B;lymphocyte antigen APPROVED protein-coding ENSG00000234745 HGNC:4932 00828 106300;142830;608579 REVIEWED 1350485 HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010] 6 6 6 p21.3 34259259 34264762 + 32709156 32714664 + 32741386 32746887 + 1580863;6907045;6480464;8554872 10661406;10729169;11048639;11118314;11376336;11535811;11593029;11827988;12427289;12477932;12836198;12970439;1362295;15078178;15194762;15489916;16091223;1612647;16354571;16454711;17554300;17652306;17959659;18065200;18668548;1869305;18945465;19116923;19149577;19449444;19620308;1967269;19770068;1978941;19851445;20012522;20159242;20237496;20305777;20587610;20596022;20711174;21059907;21102463;21408207;21778700;21804548;21922073;22075330;22096524;22103833;22103834;22125590;22175768;22407913;22493691;22693455;22860026;23053960;23146381;23257407;23266558;23284291;23349640;23382691;23472185;23918589;2513578;2543930;2846691;3036828;3372263;3489470;3610256;6300884;6584734;7512597;7541827;7602119;8026991;8084338;8168144;8376762;9036956;9079699 3118 P01906 ABBA01038131;AL672104;AL713890;AL773543;AMYH02013474;BX248406;BX927131;BX927160;BX927168;CR753846;CR759848;CR936921;K00513;M17237;M29614;M29615;M34997;M76219;NM_020056;X00453;Z84490 AAA35772;AAA36249;AAA59605;AAA59761;AAA59834;CAA25142;CAB06493;NP_064440;P01906 Hs.591798 1686242;2127947 RH46692;RH79899 DX-ALPHA;HLA-DXA DX alpha chain;HLA class II histocompatibility antigen, DQ alpha 2 chain;HLA class II histocompatibility antigen, DQ(6) alpha chain;HLA-DQA1;MHC class II DQA2;OTTHUMP00000029144 APPROVED protein-coding HGNC:4943 09982 613503 REVIEWED 1347386 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34592531 34609302 + 33043703 33057473 + 33075926 33089696 + 1580863;5143998;5143999;5143938;5143939;5143980;5144001;6480651;6480464;6907045;5147561 18652916;19165231;20046412;21186201;21217921;21423603;21569485;7576003 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3115 H0Y5P2;H0Y7G7;I4EC15;P04440;Q5EP54 AB208978;AB247517;ABBA01038137;AF041252;AF074845;AF074846;AF077015;AF180970;AF184168;AF211979;AF234538;AF280405;AF288354;AF288355;AF326565;AF335225;AF335226;AF335227;AF335228;AF335229;AF336222;AF336223;AF336224;AF336225;AF336226;AF336227;AF336228;AF336229;AF336230;AF336231;AF372451;AF372452;AF462072;AF489518;AF492636;AF492637;AF492638;AF492639;AF492640;AF492641;AF492642;AF492643;AF517128;AF536241;AF549409;AF549410;AJ238005;AJ245640;AJ271373;AJ292074;AJ297820;AJ514871;AJ563603;AJ563604;AJ581676;AJ810847;AK291986;AK301322;AK303153;AK313305;AL645931;AL662824;AL805913;AL845446;AM039828;AM158320;AM408787;AMYH02013477;AY029777;AY033075;AY335522;AY335523;AY335524;AY335525;AY335526;AY335527;AY335528;AY335529;AY335530;AY335531;AY335532;AY335533;AY335534;AY335535;AY335536;AY335537;AY335538;AY335539;AY335540;AY335541;AY335542;AY335543;AY335544;AY374100;AY375772;AY375774;AY375776;AY375779;AY375782;AY375783;AY375784;AY375785;AY375788;AY375790;AY375796;AY375797;AY375800;AY375804;AY375805;AY375806;AY375807;AY375808;AY375809;AY375810;AY375811;AY375812;AY375813;AY375814;AY375815;AY375816;AY375817;AY375818;AY375819;AY375820;AY375821;AY375822;AY375823;AY375824;AY375826;AY425707;AY572830;AY582141;AY618897;AY656678;AY656679;AY656680;AY804132;AY804133;AY804134;AY804135;AY804136;AY804137;AY804138;AY804139;AY804140;AY804141;AY804142;AY804143;AY823995;AY831401;AY831402;AY831403;AY831404;AY855160;AY855161;BC007963;BC013184;BC015000;BP213121;BT019780;BX120009;CH471081;CR759795;CR759904;CR762479;CR847849;D10478;D10479;D10834;D10882;D13174;D14344;D28809;DQ089022;DQ100371;DQ148299;DQ206450;DQ282119;DQ284441;DQ386161;DQ485789;GQ891549;HE614584;HE614586;J03041;K00409;K01615;K03014;L07768;L09236;L17310;L17311;L17313;L17314;L22076;L22077;L23400;L29173;L29174;M21886;M23675;M23676;M23677;M23678;M23679;M23680;M23681;M23682;M23683;M23685;M23686;M23687;M23906;M23907;M23908;M28200;M28201;M28202;M31778;M31780;M31781;M57466;M58608;M62326;M62327;M62328;M62329;M62330;M62331;M62332;M62333;M62334;M62335;M62337;M62338;M62340;M62341;M62342;M62343;M62344;M63508;M83664;M83912;M83913;M83914;M83915;M83916;M83917;M83918;M83919;M84014;M85222;M85223;NG_033242;NM_002121;S53170;S66883;S70106;S72495;U22311;U22312;U22313;U29534;U34033;U59437;U59438;U59439;U59440;U59441;U59442;X00532;X01426;X02228;X03022;X03023;X03024;X03025;X03026;X03027;X03028;X03067;X03100;X80331;X80752;X82123;X96986;X97406;XM_006715077;XM_006715078;XM_006725039;XM_006725040;XM_006725698;XM_006725699;XM_006725816;XM_006725817;XM_006725907;XM_006725908;XM_006725997;XM_006725998;XM_006726087;XM_006726088;Y08862;Y09327;Y13900;Y14230;Y16095;Y18498;Z92523 AAA16928;AAA35993;AAA35994;AAA36255;AAA36257;AAA36258;AAA36259;AAA36260;AAA36261;AAA36262;AAA36263;AAA36264;AAA36265;AAA36266;AAA36310;AAA36311;AAA36312;AAA36313;AAA52663;AAA53195;AAA53196;AAA53197;AAA53476;AAA53477;AAA53479;AAA53480;AAA53481;AAA53482;AAA58441;AAA59650;AAA59690;AAA59719;AAA59720;AAA59721;AAA59722;AAA59723;AAA59724;AAA59725;AAA59726;AAA59727;AAA59728;AAA59730;AAA59731;AAA59733;AAA59734;AAA59735;AAA59736;AAA59737;AAA59738;AAA59739;AAA59740;AAA59741;AAA59742;AAA59743;AAA59744;AAA59745;AAA59746;AAA59747;AAA59748;AAA59750;AAA59751;AAA59752;AAA59753;AAA59828;AAA59837;AAA59843;AAA63221;AAA81335;AAB17108;AAB24928;AAB28826;AAB29915;AAB32181;AAB52511;AAB60413;AAB60414;AAC26835;AAD02200;AAD09481;AAD09482;AAD09483;AAD09484;AAD09485;AAD09486;AAD39682;AAD39683;AAF16938;AAF32279;AAF44659;AAG30143;AAG30144;AAH07963;AAH13184;AAH15000;AAK00264;AAK01673;AAK20867;AAK20868;AAK20869;AAK20870;AAK20871;AAK25777;AAK25778;AAK25779;AAK25780;AAK25781;AAK25782;AAK25783;AAK25784;AAK25785;AAK25786;AAK40344;AAK51161;AAK54754;AAK54755;AAK58508;AAL68647;AAL92172;AAM62425;AAN33050;AAO84761;AAO84762;AAO84763;AAO84764;AAO84765;AAO84766;AAO84767;AAO84768;AAQ12563;AAQ12564;AAQ88048;AAQ88049;AAQ88050;AAQ88051;AAQ88052;AAQ88053;AAQ88054;AAQ88055;AAQ88056;AAQ88060;AAQ88063;AAQ88064;AAQ88065;AAQ88066;AAQ88067;AAQ88068;AAQ88069;AAQ88070;AAQ88071;AAQ88072;AAQ88073;AAQ88074;AAQ88075;AAQ88076;AAQ88077;AAQ88078;AAQ88079;AAQ88080;AAQ88081;AAQ88082;AAQ88083;AAQ88085;AAQ88090;AAQ88091;AAQ88094;AAR01826;AAR01828;AAR01830;AAR01832;AAR01834;AAR01836;AAR01838;AAR01840;AAR01842;AAR01844;AAR01846;AAR01848;AAR01850;AAR01852;AAR01854;AAR01856;AAR01858;AAR01860;AAR01862;AAR01864;AAR01866;AAR01868;AAR01870;AAR21105;AAR29060;AAS77869;AAT40308;AAT81151;AAV38583;AAV71025;AAV71026;AAV71027;AAW33682;AAW33683;AAW78737;AAW78738;AAW78739;AAW78740;AAW78741;AAW78742;AAW78743;AAW78744;AAW78745;AAW78746;AAW78747;AAW78748;AAW79272;AAW80919;AAW80920;AAW80921;AAW80922;AAY98352;AAZ13612;ABA33892;ABB17974;ABB91805;ABC66207;ABD36812;ABF47047;ABM81976;ABM85155;ACX50636;BAA01281;BAA01282;BAA01614;BAA01704;BAA02465;BAA03278;BAA05970;BAD92215;BAE78492;BAF84675;BAG36110;BAG62871;BAG64256;CAA25210;CAA25672;CAA26147;CAA26823;CAA26871;CAA26886;CAA56581;CAA56728;CAA57635;CAA65710;CAA66059;CAA70086;CAA70507;CAA74199;CAA74608;CAA76060;CAB06822;CAB53016;CAB70605;CAC12860;CAC12865;CAC14048;CAC27995;CAD55852;CAD91639;CAD91640;CAE46432;CAE82007;CAE82008;CAE82037;CAE82042;CAE82043;CAE82073;CAH18733;CAJ01690;CAJ43602;CAL64063;CCE73901;CCE73903;EAX03672;EAX03673;EAX03674;EAX03675;NP_002112;P04440;XP_006715140;XP_006715141;XP_006725102;XP_006725103;XP_006725761;XP_006725762;XP_006725879;XP_006725880;XP_006725970;XP_006725971;XP_006726060;XP_006726061;XP_006726150;XP_006726151 Hs.485130 1648390;1787904;1794502;2106385;2118865;2217428;5092000 D6S1867;D6S2767;HLA-DPB1_3384;PMC316580P2;RH37399;SHGC-173634;STS-M57466 DPB1;FLJ57621;FLJ61008;HLA-DP;HLA-DP1B;HLA-DPB HLA DP14-beta chain;HLA class II histocompatibility antigen, DP beta 1 chain;HLA class II histocompatibility antigen, DP(W4) beta chain;HLA-DP histocompatibility type, beta-1 subunit;MHC HLA DPB1;MHC class II HLA-DP-beta;MHC class II HLA-DP-beta-1;MHC class II HLA-DRB1;MHC class II antigen DP beta 1 chain;MHC class II antigen DPB1;MHC class II antigen DPbeta1;MHC class II antigen beta chain;OTTHUMP00000029091;OTTHUMP00000029093;OTTHUMP00000178827;beta1 domain MHC class II HLA DPB;class II HLA beta chain;major histocompatibility complex class II HLA DPB1 protein;major histocompatibility complex class II antigen beta chain APPROVED protein-coding HGNC:4940 00832 142858 REVIEWED 1354401 HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010] 6 6 6 p21 34273971 34281430 - 32723837 32731330 - 32756098 32763553 - 1580863;6480464 10661406;10729169;11118314;11334674;11593029;12427289;12477932;12836198;12970439;1420115;14574404;14702039;14730600;15078178;15194762;16091223;16354571;16454711;17959659;1869305;18945465;19149577;19180512;19449444;19620308;1967269;19770068;1978941;19851445;20012522;20237496;20587610;21257290;21408207;21750111;21778700;21906983;21922073;22103833;22103834;22175768;22407913;22446962;22860026;23053960;23349640;23382691;23760081;24162738;2543930;2564844;2846691;3036828;3489470;3858830;7512597;7541827;7602119;8084338;8168144;8376762;8568858;9079699 3120 A2ADX3;H0Y7Y7;P05538;Q5SQ91;Q5SR05 ABBA01038131;AK098007;AL671681;AL672104;AL713890;AL773543;AMYH02013474;BC031995;BX296564;BX927160;CH471081;CR753846;CR759848;CR788227;CR936921;M24920;M24921;M24922;M24923;M83890;M95729;NM_001198858;NM_001300790;X87344;XM_005249051;XM_005272807;XM_005274855;XM_005275546;Z84490 AAA52667;AAA52668;AAA52669;AAA52670;BAG53563;CAA60790;CAD20258;EAX03635;EAX03636;EAX03637;NP_001185787;NP_001287719;P05538;XP_005249108;XP_005272864;XP_005274912;XP_005275603 Hs.731563 1668532;2163514;2165508;5019048 G43554;RH36565;RH46826;WI-16883 HLA-DQB1;HLA-DXB DV19.1 (major histocompatibility complex, class II, DQ beta 2 (HLA-DXB));HLA class II histocompatibility antigen, DQ beta 2 chain;HLA class II histocompatibility antigen, DX beta chain;MHC class II antigen DQB2;OTTHUMP00000029168;OTTHUMP00000029169;OTTHUMP00000178595;OTTHUMP00000178596;major histocompatibility complex, class II, DQ beta 1 APPROVED protein-coding ENSG00000232629 HGNC:4945 09983;09984 615161 REVIEWED 1344963 HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 p21.3 1580863 1529427;2495625;2571586;3372263 3121 Q29783 M35000 AAA35774 D6S205;D6S205E;DQB3;DVB;HLA-DVB DVbeta protein-coding HGNC:4946 1351810 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. 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3117 B7ZW51;E9PI37;E9PMV2;F6UB03;L8E864;P01909;Q08AS3;Q30063;Q5Y7D2;Q5Y7H0;Q8MH44 AB006908;AB209628;ABBA01038126;ABBA01038127;AC247048;AF012768;AF109734;AF126253;AF322870;AF395700;AF515807;AF515808;AF515809;AF515810;AF515811;AF515812;AF515813;AF522250;AF533895;AF533896;AF533897;AF533898;AF533899;AF533900;AF533901;AF533902;AF533903;AF533904;AF533905;AF533906;AF533907;AF533908;AF533909;AF533910;AF533911;AF533912;AF533913;AF533914;AF533915;AF533916;AF533917;AF533918;AF533919;AF533920;AF533921;AF533922;AF533923;AF533924;AF533925;AF533926;AF533927;AF533928;AF533929;AF533930;AF533931;AF533932;AF533933;AF533934;AF533935;AF533936;AF533937;AF533938;AF533939;AF533940;AJ296092;AK130598;AK130811;AK130838;AK297065;AK313975;AL662789;AL731683;AL928759;AL935026;AM042559;AM042560;AM286275;AM286276;AM286277;AY180974;AY197775;AY206406;AY375896;AY375905;AY375912;AY375913;AY375914;AY375915;AY375916;AY375917;AY375918;AY375919;AY375920;AY375921;AY375922;AY375931;AY375932;AY375933;AY375934;AY375935;AY375936;AY375937;AY375938;AY375939;AY375940;AY375941;AY375942;AY375943;AY375944;AY375945;AY375946;AY375947;AY375948;AY375949;AY375952;AY375953;AY375954;AY375955;AY375956;AY375957;AY375958;AY375959;AY375960;AY375961;AY375962;AY375963;AY375964;AY375965;AY375970;AY375972;AY375973;AY375974;AY375978;AY375979;AY375980;AY375981;AY375982;AY375983;AY375984;AY375985;AY375986;AY375987;AY547314;AY585236;AY663394;AY663395;AY663396;AY663397;AY663400;AY663405;AY663406;AY663408;AY663409;AY663411;AY663412;AY663413;AY663414;AY663415;BC008585;BC051832;BC073977;BC125044;BC125045;BC171877;BU617246;BX248406;BX927168;CH471415;CR450297;CR753835;CR753846;CR933859;DQ178403;DQ178407;DQ178411;DQ178415;DQ284436;DQ284437;DQ284438;DQ284439;DQ284440;L34082;L34083;L34084;L34085;L34086;L34087;L34088;L34090;L34091;L34092;L34093;L34094;L42625;L46875;M16995;M17236;M17846;M17847;M18935;M20431;M20506;M26041;M29613;M29616;M33906;M34996;M34999;M59802;M83887;NG_032876;NM_002122;S75685;U03675;U77589;U85035;U92032;U97555;X00033;X00370;X00452;XM_003846468;XM_005274953;XM_005275108;XM_005275333;XM_005275542;XM_005275544;XM_006715079;XM_006725484;XM_006725999;Z84489 AAA35771;AAA36267;AAA52671;AAA59707;AAA59708;AAA59756;AAA59757;AAA59758;AAA59759;AAA59760;AAA59774;AAA59784;AAA64233;AAA74633;AAA85334;AAB32621;AAB41891;AAB51233;AAB58310;AAB60341;AAB70189;AAB91990;AAC41950;AAC41951;AAC41952;AAC41953;AAC41954;AAC41955;AAC41956;AAC41958;AAC41959;AAC41960;AAC41961;AAC41962;AAD49219;AAD56720;AAH08585;AAH73977;AAI25045;AAI25046;AAI71877;AAK11577;AAM69677;AAM74914;AAM74915;AAM74916;AAM74917;AAM74918;AAM74919;AAM74920;AAM94809;AAM94810;AAM94811;AAM94812;AAM94813;AAM94814;AAM94815;AAM94816;AAM94817;AAM94818;AAM94819;AAM94820;AAM94821;AAM94822;AAM94823;AAM94824;AAM94825;AAM94826;AAM94827;AAM94828;AAM94829;AAM94830;AAM94831;AAM94832;AAM94833;AAM94834;AAM94835;AAM94836;AAM94837;AAM94838;AAM94839;AAM94840;AAM94841;AAM94842;AAM94843;AAM94844;AAM94845;AAM94846;AAM94847;AAM94848;AAM94849;AAM94850;AAM94851;AAM94852;AAM94853;AAM94854;AAO23559;AAO45622;AAO47362;AAP80750;AAQ89959;AAQ89960;AAQ89961;AAQ89962;AAQ89963;AAQ89964;AAQ89965;AAQ89966;AAQ89967;AAQ89968;AAQ89969;AAQ89974;AAQ89976;AAQ89977;AAQ89978;AAQ89982;AAQ89983;AAQ89984;AAQ89985;AAQ89986;AAQ89987;AAQ89988;AAQ89989;AAQ89990;AAQ89991;AAQ91390;AAQ91391;AAQ91392;AAQ91393;AAQ91394;AAQ91395;AAQ91396;AAQ91397;AAQ91398;AAQ91399;AAQ91400;AAQ91401;AAQ91402;AAQ91411;AAQ91412;AAQ91413;AAQ91414;AAQ91415;AAQ91416;AAQ91417;AAQ91418;AAQ91419;AAQ91420;AAQ91421;AAQ91422;AAQ91423;AAQ91424;AAQ91425;AAQ91426;AAQ91427;AAQ91428;AAQ91429;AAQ91430;AAQ91431;AAQ91432;AAS49496;AAT09985;AAU87975;AAU87978;AAU87981;AAU87984;AAU87992;AAU88004;AAU88007;AAU88013;AAU88016;AAU88022;AAU88025;AAU88028;AAU88031;AAU88034;ABA86855;ABA86856;ABA86857;ABA86858;ABC66202;ABC66203;ABC66204;ABC66205;ABC66206;ABM82461;ABM85650;BAA22189;BAD92865;BAG36689;BAG59586;CAA24917;CAA25141;CAB06491;CAC88114;CAG29293;CAJ14960;CAJ14961;CAL08011;CAL08012;CAL08013;EAW50504;EAW50505;NP_002113;P01909;XP_003846516;XP_005275010;XP_005275165;XP_005275390;XP_005275599;XP_005275601;XP_006715142;XP_006725547;XP_006726062 Hs.387679;Hs.591798;Hs.706240 1337938;1342185;1677854;1686242;1691244;1694732;1779204;1790797;1793282;5016458;7183769;7184107;7186195;7204152 D5S498;D6S1666;D6S2446;D6S291;G28524;G43562;PMC204479P1;RH76581;RH78929;RH79899;SHGC-152784 CD;CELIAC1;DQ-A1;FLJ27088;FLJ27328;GSE;HLA-DQA;MGC149527 DC-1 alpha chain;DC-alpha;HLA class II histocompatibility antigen, DQ alpha 1 chain;HLA class II histocompatibility antigen, DQ(W3) alpha chain;HLA-DCA;MHC HLA-DQ alpha;MHC class II DQA1;MHC class II HLA-D alpha glycoprotein;MHC class II HLA-DQ-alpha-1;MHC class II antigen;MHC class II surface glycoprotein;OTTHUMP00000029141;OTTHUMP00000176885;OTTHUMP00000178551;OTTHUMP00000178552;OTTHUMP00000233817;leucocyte antigen DQA1;leukocyte antigen alpha chain APPROVED protein-coding ENSG00000196735 HGNC:4942 06765 146880;212750 REVIEWED 1344093 HLA-DRA major histocompatibility complex, class II, DR alpha HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33973612 33978821 + 32407619 32412823 + 32439842 32445046 + 1580863;5147592;5490157;5490202;5490164;5490203;5490168;5490158;5490159;5490205;5490160;5490162;5147805;5490166;5490156;5490204;6480464;6484113;6907045;8699517;8554872 10527398;11812739;12126634;15644645;16687443;17568330;17660530;19635508;19834503;20711177;21427211;21791235;3142800;8676084;9104792 10480952;10661406;10716924;10729169;11048639;11070170;11118314;11168931;11181188;11239948;11260509;11294926;11298540;11320565;11361223;11464148;11487543;11593029;11742191;11751963;11777970;11827988;11854199;11927549;12006557;12073071;12074713;12117677;12202216;12230470;12244309;12370403;12373032;12427289;12445311;12477932;12580031;12707403;12836198;12932352;12970439;1448091;1448172;14574404;14736971;14976194;15078178;15105429;1512535;15194762;15301866;15361126;15467430;15489334;15489916;15536412;15688398;15784911;15836703;16091223;16242130;16341674;16354571;16454711;16973583;17411376;17431094;17507489;17652306;17662350;17959659;18215421;18270567;18305173;18371160;18672082;1869305;18836448;18846964;18931722;18932050;18939942;18945465;18987644;19046302;19047245;1905983;19116923;19117940;19120278;19122664;19143821;19149577;19188433;19204726;19247692;19287509;19430480;19449444;19525953;19620308;19648278;19660582;1967269;1970352;19770068;1978941;19820697;19851445;19861958;19913121;20012522;20041166;20118277;20159113;20202859;20228798;20232575;20237496;20362271;20378664;20410501;20458337;20497195;20546939;20584675;20587610;20628086;20686565;21037568;21059907;21072187;21085635;21282653;21297633;21482477;21602797;21653640;21778700;21779181;21804548;21804607;21898163;21906983;21922073;22096524;22103833;22103834;2212658;22167754;22175768;22243834;22286212;22391069;22541561;22808111;22860026;22889831;22890421;23028341;23028483;23083294;23100517;23128233;23152536;23170932;23264739;23349640;23449627;23472185;23535732;23579001;23729440;23850713;23878500;24097068;24214983;24282030;24384427;24493819;24505475;2543930;2846691;3266023;3489470;6304715;6324094;6403940;6416803;6422542;6811954;6812963;6817331;6821129;6952207;6952234;6955026;6955253;7477400;7512597;7519244;7541827;7602119;7629508;7645219;7648393;7734415;7835916;7912458;8084338;8145819;8152483;8168144;8316295;8376762;8450224;8454872;8574855;8649448;8773319;8890155;8920889;9079699;9310842;9354468;9371817;9700202;9759843;9782128 3122 B4DLJ8;B4DW37;F5GZ59;P01903;Q30118 ABBA01038112;AF481359;AI492718;AK297032;AK301134;AK301190;AK301354;AK310161;AK313123;AL662796;AL670296;AL935032;AMYH02013473;BC032350;BC071659;BG548634;BM849755;BX120007;CH471081;CR354545;CR457013;CR753634;CR759779;J00193;J00194;J00195;J00197;J00201;J00203;J00204;K01171;M35979;M60333;M60334;NG_002392;NM_019111;V00523;V00524;V00528;X00274;Z84814 AAA36272;AAA36275;AAA36283;AAA36301;AAA36302;AAA59783;AAA59785;AAA59787;AAH32350;AAH71659;AAO23887;ABM82521;ABM85715;BAG35943;BAG59560;BAG62726;BAG62899;BAH13427;CAA23782;CAA23783;CAA23787;CAA25076;CAB06609;CAG33294;EAX03629;EAX03630;EAX03631;NP_061984;P01903 Hs.520048 1741121;1792536;1792850;1793282;1795010;2217432;5014764 GDB:177843;HLA-DRA_3387;PMC153210P2;PMC166015P1;PMC204479P1;PMC87290P1;RH78783 FLJ51114;HLA-DRA1;MLRW HLA class II histocompatibility antigen, DR alpha chain;MHC cell surface glycoprotein;MHC class II antigen DRA;OTTHUMP00000029406;OTTHUMP00000029407;histocompatibility antigen HLA-DR alpha APPROVED protein-coding ENSG00000204287 HGNC:4947 00833 142860 REVIEWED 1352496 HLA-DRB2 major histocompatibility complex, class II, DR beta 2 (pseudogene) 6 6 p21.3 3972666 3987695 - 3972560 3987589 - 11237011;12133402;12477932;1541486;15496913;18193213;18466483;20095337;3032786;3129499;3571980;6947956;8436426 3124 AL049740;AL662842;AL929581;GL000251;GL000255;M16274;M16275;M86691;NG_002392 1651283;1854390;2106301;2155163 D6S2880;RH46844;SHGC-35283;STS-H52245 HLA-DR2B;MGC120245 pseudo HGNC:4950 VALIDATED 1343169 HLA-DRB3 major histocompatibility complex, class II, DR beta 3 HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB3 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34024036 34037163 - 3934127 3947195 - 3934021 3947089 - 1580863;6480464;6907045;8548807 11678832 10609818;10661406;10729169;10902611;10958362;11027344;11048639;11082517;11098940;11118314;11144299;11169247;11169267;11182227;11237011;11380956;11751963;11782380;11827988;11872240;11894954;11997714;12008082;12133402;12144077;12144619;12144632;12202216;12209103;12230470;12296785;12392858;12427289;12477932;12694584;12956878;14508706;14574404;14677183;15041167;15489334;15489916;15496200;15496209;15496913;15531903;15620466;15652424;15784911;15795121;15896200;15902698;15908298;16200610;16320316;16405603;16426242;16815190;16879749;16916662;16929349;16973583;17002906;17006990;17050030;17052889;17106278;17153701;17182961;17207965;17411376;17431094;17507489;17509091;17559577;17583734;17652306;17714418;17714554;17763415;17910142;17911430;17927716;17959659;18193213;18223493;18258695;18305173;18486765;18520346;18537178;18569076;18672082;1869305;18846964;18945465;1905983;1908841;19136661;19223392;19233472;19235017;19286445;19449444;19487887;19620308;1967269;1970352;19770068;19776016;1978941;19830726;19851445;19922436;19946888;20012522;20149160;20307907;20331476;20371654;20395221;20458337;20606439;20933106;20972469;21085635;21447263;21507567;21666788;21778700;21922073;21988832;22366579;22433715;22531795;22671039;22808111;22860026;23010279;23152536;23170932;23387390;23462545;23596045;23729440;23742216;24505475;2471740;2493052;2497068;24988556;2543930;2846691;3012569;3020126;3110774;3372263;3459965;3466180;3476943;3489470;6414998;6415003;6589154;7477400;7512597;7541827;7602119;7645219;7734415;8016840;8084338;8125298;8168144;8376762;8450224;8462990;8500529;8775462;9079699;9162096;9223324;9234492;9234494;9243765;9389331;9802612 3125 P79483;Q9UQT9 A06800;AF000448;AF026467;AF028012;AF028589;AF058294;AF081677;AF092089;AF092176;AF132810;AF148518;AF152844;AF152845;AF177216;AF192258;AF192259;AF199236;AF208484;AF208485;AF361865;AF427138;AF427139;AF455114;AF461431;AJ001255;AJ238155;AJ242860;AJ242861;AJ242862;AJ290395;AJ315477;AJ441058;AJ507784;AJ507785;AJ555542;AJ564210;AK226043;AL662842;AL929581;AY033875;AY036908;AY042679;AY094138;AY138123;AY271986;AY291205;AY958608;BC001023;BC008987;BC106057;CH471081;CR788283;DQ011880;DQ064701;DQ179035;DQ179037;DQ309438;DQ311653;DQ518875;GL000250;M13561;M13562;M16941;M17380;M28991;M28992;M35004;NG_002392;NM_022555;U36826;U66825;U94590;U95819;U95820;V00522;X04055;X04058;X04059;X65558;X65559;X65560;X95760;X99771;Y08063;Y10180;Y10553;Y13715;Z84814 AAA36282;AAA36285;AAA36291;AAA52326;AAA59796;AAA59797;AAA59804;AAB53324;AAB63531;AAB84139;AAB86437;AAB94614;AAC05599;AAC13718;AAC32202;AAC64135;AAC64137;AAD00819;AAD00820;AAD30528;AAD43828;AAD45285;AAD45286;AAD53911;AAF13065;AAF23165;AAF23166;AAF26358;AAF26359;AAF67837;AAH01023;AAH08987;AAI06058;AAK38297;AAK59387;AAK67649;AAK94514;AAL26538;AAL26539;AAL57866;AAL66370;AAM14399;AAN15205;AAP23230;AAP43643;AAY28717;AAY40255;AAY59415;ABA06593;ABA06595;ABC33924;ABC40506;ABG33842;ADQ31672;CAA00596;CAA04629;CAA23781;CAA46528;CAA46529;CAA46530;CAA65066;CAA68104;CAA69301;CAA71253;CAA71585;CAA74043;CAB06607;CAB41973;CAB62390;CAB62391;CAB62392;CAC27417;CAC86562;CAD29670;CAD47820;CAD47821;CAD88258;CAD91915;CAE82039;CAE82045;CAE82072;EAX03632;NP_072049;P13761;P79483 Hs.696211 1655128;1677800;1677977;1680405;1680767;1688891;1691040;1741043;1794500;2106297;2115317;2118054;2161829;2183992;5113105 D6S2881;GDB:177509;PMC316580P1;RH15772;RH46799;RH46825;RH69063;RH69091;RH69092;RH69107;RH70404;RH79846;RH80065;RH80800;STS-V00522 DR7;HLA-DR3B;HLA-DR52;HLA-DRB1;MGC117330 HLA class II histocompatibility antigen, DR beta 3 chain;HLA class II histocompatibility antigen, DRB1-7 beta chain;MHC class II HLA-DR beta 3 chain;MHC class II antigen DR beta 3 chain;MHC class II antigen DRB3;human leucocyte antigen DRB3 APPROVED protein-coding HGNC:4951 09985 612735 REVIEWED 1345500 HLA-DRB4 major histocompatibility complex, class II, DR beta 4 HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB4 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008] 6 6 p21.3 3846047 3861015 - 3840424 3855395 - 1580863;6480464;6907045 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3126 P13762;Q9UM28;X5D2U9 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Hs.534322;Hs.696211;Hs.716081;Hs.723344 1651283;1655128;1675941;1677800;1679395;1684164;1688891;1741043;1854390;2118054;2142838;2155163;2161829;5113105 GDB:177509;RH15772;RH46799;RH46844;RH69063;RH69085;RH69091;RH69107;RH76259;RH80065;RH80804;RH93154;SHGC-35283;STS-H52245 DR-12;DR-13;DR-14;DR-4;DR12;DR13;DR14;DR4;DRB4;HLA-DR4B DRB1 transplantation antigen;HLA class II histocompatibility antigen, DR beta 4 chain;HLA class II histocompatibility antigen, DRB1-12 beta chain;HLA class II histocompatibility antigen, DRB1-4 beta chain;MHC HLA DR-beta chain;MHC class I antigen DRB1*12;MHC class I antigen DRB1*4;MHC class II HLA-DR-beta-7;MHC class II antigen DRB1*12;MHC class II antigen DRB1*13;MHC class II antigen DRB1*14;MHC class II antigen DRB1*4;MHC class II antigen DRB4;MHC class II antigen HLA-DR-beta;MHC class II antigen HLA-DRB1;MHC class2 antigen;class II histocompatibility antigen HLA DR alpha, beta1-0307;human leucocyte antigen DRB4;leucocyte antigen DRB1;leukocyte antigen;major histocompatibility complex, class II, DR beta 1 APPROVED protein-coding HGNC:4952 09986 REVIEWED 1353906 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. 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AAA03249;AAA36236;AAA36237;AAA36238;AAA36239;AAA36240;AAA36241;AAA36242;AAA36243;AAA36245;AAA36246;AAA36247;AAA36251;AAA36268;AAA36269;AAA36270;AAA36271;AAA52319;AAA52672;AAA59577;AAA59675;AAA59676;AAA59677;AAA59696;AAA59697;AAA59698;AAA59709;AAA59710;AAA59711;AAA59712;AAA59755;AAA59763;AAA59764;AAA59765;AAA59766;AAA59767;AAA59768;AAA59769;AAA59770;AAA59771;AAA59772;AAA59773;AAA59775;AAA59776;AAA59778;AAA59788;AAA59792;AAA59793;AAA59807;AAA59820;AAA59821;AAA59823;AAA63216;AAA63217;AAA64234;AAA64235;AAA75521;AAA77049;AAA85335;AAA92331;AAA92332;AAA93181;AAA98746;AAB02681;AAB02682;AAB05807;AAB19215;AAB25221;AAB41231;AAB51698;AAB60325;AAB86436;AAB91991;AAC02814;AAC41963;AAC41964;AAC41965;AAC41966;AAC41967;AAC41968;AAC41969;AAC41970;AAC41971;AAC41972;AAC41973;AAC41974;AAC41975;AAC41976;AAC64403;AAC64605;AAD00003;AAD00006;AAD00007;AAD00008;AAD14316;AAD17203;AAD23990;AAD23991;AAD39697;AAD54423;AAD56412;AAF28315;AAF63192;AAH12106;AAI28596;AAK01944;AAK17120;AAK17121;AAK17122;AAK17123;AAK91824;AAK96012;AAK96013;AAL35222;AAL66389;AAL77085;AAM09472;AAM14401;AAM28883;AAM53072;AAM94360;AAP78473;AAP94731;AAQ88016;AAQ88017;AAQ88018;AAQ88019;AAQ88020;AAQ88021;AAQ88022;AAQ88023;AAQ88024;AAQ88025;AAQ88026;AAQ88027;AAQ88028;AAQ88029;AAQ88030;AAQ88031;AAQ88032;AAQ88033;AAQ88034;AAQ88035;AAQ88036;AAQ88037;AAQ88038;AAQ88039;AAQ88040;AAQ88041;AAQ88042;AAQ88043;AAQ88044;AAQ88045;AAQ88046;AAQ88047;AAT39543;AAT77952;AAU33811;AAU87973;AAU87977;AAU87980;AAU87982;AAU87986;AAU87988;AAU87991;AAU87994;AAU88002;AAU88006;AAU88009;AAU88012;AAU88015;AAU88017;AAU88020;AAU88024;AAU88027;AAU88030;AAU88032;AAU88036;AAV71028;AAV71029;AAV71030;AAV97949;AAX22127;AAX22128;AAX22129;AAX22130;AAX22131;AAX22132;AAX22133;AAX22134;AAX22135;AAX22136;AAX22137;AAX22138;AAY33730;AAY33731;AAY33732;AAY33733;AAY33734;AAY89656;AAZ20753;AAZ67362;ABA06597;ABB05231;ABF50985;ABF56580;ABF56581;ABM83224;ABM86423;BAA06217;BAA11413;BAA19528;BAD92817;BAD92875;BAD95610;BAG58244;BAG58403;BAG58545;BAG59223;BAG65340;BAH14704;CAA04630;CAA04631;CAA09928;CAA09929;CAA09990;CAA11215;CAA23788;CAA26872;CAA65280;CAA71450;CAA84482;CAC19575;CAC27418;CAD47822;CAD59445;CAD89801;CAD97476;CAH69441;CAI79639;CAJ57391;CAJ76977;CAJ76978;CAJ90955;CAJ90956;CAK50560;CAL25326;CAL64838;EAW50577;EAW50578;EAW50579;EAW50580;EAW50581;NP_001230890;NP_001230891;NP_002114;P01920 Hs.409934;Hs.534322 1645027;1668532;1778909;2146819;2163315;2177691;2189559;2217430;5124436;7187278 D6S1841;D6S2202;D6S2447;HLA-DQB1_3386;RH36565;RH46706;RH69385;RH80803;STS-K02405 CELIAC1;HLA-DQB;IDDM1 HLA class II histocompatibility antigen, DQ beta 1 chain;MHC DQ beta;MHC class II DQ beta chain;MHC class II HLA-DQ beta glycoprotein;MHC class II antigen DQB1;MHC class II antigen HLA-DQ-beta-1;MHC class2 antigen;OTTHUMP00000029167;OTTHUMP00000178569;OTTHUMP00000178570;OTTHUMP00000178571;lymphocyte antigen;major histocompatibility complex class II beta APPROVED protein-coding ENSG00000179344 HGNC:4944 05054 123400;126200;212750;604305 REVIEWED 1354106 HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) INTERACTS WITH lead(0); lead(2+) 6 6 p21.3 32520490 32527779 - 32552713 32560002 - 6480464 10436177;12089714;12133402;1529427;17910142;1937579;23472185;23535732;9601939 3128 O77966 ABBA01038116;ABBA01038117;AC247048;AF005487;AL713966;L76565;L76566;NG_002432;NR_001298;U33547;XR_426005 AAC26400 Hs.723344 2106301;2118054 D6S2880;RH69091 pseudo ENSG00000229391 HGNC:4954 VALIDATED 1602730 HLA-DRB7 major histocompatibility complex, class II, DR beta 7 (pseudogene) 6 6 p21.3 3775261 3794587 - 3769545 3789002 - 11237011;1529427;15496913;18193213;3856276 3129 ABBA01028477;AL137064;BX296568;BX649210;CR753309;CR753835;CR753841;CR933540;GL000252;K02772;K02773;K02774;NG_002433 1675941 RH76259 pseudo HGNC:4955 VALIDATED 1347117 HLA-DRB8 major histocompatibility complex, class II, DR beta 8 (pseudogene) 6 6 p21.3 3893258 3970207 - 3897751 3900287 - 11237011;1529427;15496913;18193213;3036826 3130 AADB02009981;ABBA01028473;ABBA01028474;BX571807;BX927235;M20556;NG_002433;Z84477 pseudo HGNC:4956 VALIDATED 1345710 HLA-DRB9 major histocompatibility complex, class II, DR beta 9 (pseudogene) 6 6 6 p21.3 33988997 34020320 - 32427597 32427866 - 32459820 32460089 - 1580863 12133402;1529427;19820697;20228798;22493691;23974872;7759314 3132 Q30217 AC247048;AL670296;AL845554;FN985098;FN985099;NG_002392;NG_002432;S78510 AAD14284;CBN72526;CBN72527 1793282;2217432 HLA-DRA_3387;PMC204479P1 D6S206;D6S206E;HLA-DR1BL;HLA-DRB1L pseudo HGNC:4957 VALIDATED 1350012 HLA-DRB5 major histocompatibility complex, class II, DR beta 5 HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008] 6 6 p21.3 32485151 32498006 - 32517374 32530229 - 1580863;6480464;6907045 10551425;10609818;10661406;10703621;10729169;11034591;11048639;11082515;11082517;11118314;11144300;11169266;11181188;11181995;11260517;11380955;11469465;11555411;11704801;11751963;11782380;11798795;11827988;11934390;11972886;11997714;12028548;12121280;12133402;12144077;12144632;12202216;12209103;12230470;12244309;12296785;12358860;12392858;12427289;12477932;12519789;12652907;12694574;12694577;12956878;1428007;14508706;14617041;14752708;14989721;15191532;15191533;15245378;15489916;15730527;15784911;15896200;15902698;15982265;1612646;16140993;16305688;16405603;16426242;16441501;16502470;16566202;16916662;16973583;17106278;17153701;17182961;17207965;17411376;17431094;17507489;17559577;17652306;17910142;17959659;18305173;18520346;18569076;18672082;1869305;18713991;18832704;18846964;18945465;1905983;19116923;19122664;19223392;19235017;19380721;19449444;19620308;19663932;1967269;1970352;1975801;19770068;1978941;19811438;19946888;20012522;20193235;20193583;2023919;20307907;20394989;20458337;20606439;20639878;21085635;21131588;21297633;21299892;21778700;21906983;21922073;22033527;2212675;22493691;22531795;22723597;22808111;22860026;22862923;22888134;23028341;23152536;23170932;23349640;23535732;23729440;23850713;24162737;24366815;24505475;2471740;2511168;2543930;2565895;2846691;2884201;2885840;3015788;3020127;3099214;3129499;3137159;3259543;3371836;3456344;3466180;3476943;3489470;3571980;7512597;7541827;7547576;7602119;7645219;7652736;7734415;7974469;8016840;8026992;8084338;8168144;8168862;8362413;8376762;8450224;8462990;8655358;8864175;8988548;9027973;9079699;9162096;9223324;9226128;9349614;9500545;9777332;9820607;9864034 3127 Q30154;Q9Y454 AB010269;AB010270;AB062112;AB106129;AB112913;AB176444;AC247048;AF004817;AF011786;AF029281;AF029282;AF029283;AF029285;AF029286;AF029291;AF029301;AF034858;AF047350;AF052574;AF081676;AF089719;AF093411;AF112877;AF112878;AF122887;AF142442;AF142445;AF142451;AF142465;AF142466;AF144080;AF164346;AF169239;AF186407;AF186408;AF201762;AF234175;AF234181;AF243537;AF247533;AF247534;AF267639;AF288212;AF306862;AF329281;AF335230;AF442519;AF450093;AF490771;AJ243897;AJ243898;AJ245714;AJ245715;AJ245717;AJ249726;AJ251984;AJ252281;AJ271159;AJ289124;AJ297582;AJ297705;AJ306404;AJ401148;AJ404618;AJ491301;AJ506201;AJ506752;AJ507382;AJ507425;AJ507780;AJ512947;AJ534885;AJ539471;AJ580838;AJ783982;AJ854064;AJ854250;AJ867236;AJ871009;AJ878425;AK292140;AK314834;AL713966;AM000036;AM084908;AM159646;AM231063;AY048687;AY141137;AY170862;AY172512;AY174184;AY179366;AY179367;AY179368;AY247411;AY257483;AY259126;AY259128;AY267906;AY277387;AY277391;AY277393;AY296120;AY296121;AY305859;AY307897;AY331806;AY379480;AY396024;AY429723;AY429728;AY457037;AY465115;AY502108;AY504812;AY504813;AY545466;AY641577;AY664400;AY664401;AY765349;AY877348;AY884215;AY899913;BC009234;CH878642;D13412;D14352;D29836;D49468;DQ135944;DQ179034;DQ179042;DQ514604;DQ525634;DQ535034;DQ643390;DQ837166;EF078986;EF419344;EF495154;L21755;L26306;L41992;M15839;M15992;M16086;M16954;M16955;M16956;M17377;M17379;M17382;M17383;M20429;M20503;M27689;M30181;M30182;M32578;M35159;M57600;M57648;M59798;M63216;M74032;M81171;M81174;M81180;M98436;NG_002432;NM_002125;S79786;U08274;U17381;U25442;U25638;U26558;U31770;U34602;U37583;U41489;U41634;U59685;U66721;U66826;U68391;U72064;U72264;U79025;U79026;U79027;U95115;U95818;U96926;X64544;X64548;X64549;X65585;X86803;X95656;X97291;X99841;X99895;Y07590;Y09342;Y13727;Y17695;Y17819;Z83201;Z99006 AAA36276;AAA36277;AAA36278;AAA36292;AAA36294;AAA52325;AAA58651;AAA58657;AAA59678;AAA59679;AAA59693;AAA59715;AAA59791;AAA59795;AAA59803;AAA59818;AAA59819;AAA59822;AAA59826;AAA59829;AAA59840;AAA63193;AAA63218;AAA64236;AAA65914;AAA67471;AAA67957;AAA75451;AAA79206;AAA84388;AAA86242;AAA91838;AAA91841;AAA91847;AAB02172;AAB08109;AAB17276;AAB17994;AAB50934;AAB52229;AAB52232;AAB52235;AAB52236;AAB52237;AAB58397;AAB61608;AAB63983;AAB65751;AAB71649;AAB87709;AAB88297;AAC05828;AAC05839;AAC24013;AAC32201;AAC50167;AAC61746;AAD00818;AAD10735;AAD14315;AAD29582;AAD29583;AAD31286;AAD31289;AAD31295;AAD31309;AAD31310;AAD31766;AAD43829;AAD47814;AAD51315;AAD53053;AAF06175;AAF06176;AAF35306;AAF64297;AAF65490;AAF65491;AAF65492;AAF65494;AAF65495;AAF65500;AAF78946;AAF99607;AAF99608;AAG00414;AAG01005;AAG42258;AAG50193;AAH09234;AAK20872;AAK21117;AAL12226;AAL47161;AAN28924;AAN75784;AAN86038;AAO16556;AAO17056;AAO23237;AAO23238;AAO23239;AAO85467;AAO91660;AAP13509;AAP21612;AAP21614;AAP32697;AAP34691;AAP34695;AAP34697;AAP55804;AAP55805;AAP70485;AAP74221;AAP93590;AAQ85128;AAQ96776;AAR10879;AAR10882;AAR20446;AAR28667;AAR89455;AAR98643;AAR98644;AAS48869;AAT64904;AAT76040;AAT76041;AAV35213;AAW66688;AAW80834;AAW82335;AAZ53370;ABA06592;ABA06600;ABF60567;ABF74599;ABF93212;ABG25965;ABH05946;ABK56696;ABN58745;ABP38039;ADQ31602;BAA02678;BAA03281;BAA06216;BAA08440;BAA36549;BAA36550;BAB84521;BAC66088;BAD02944;BAD15070;BAF84829;BAG37353;CAA45842;CAA45846;CAA45847;CAA46544;CAA60498;CAA64958;CAA65956;CAA68152;CAA68170;CAA68865;CAA70524;CAA74055;CAA76817;CAA76871;CAB05668;CAB11742;CAB51474;CAB51475;CAB53343;CAB53344;CAB53346;CAB56285;CAB65734;CAB71144;CAB94833;CAC06089;CAC08822;CAC10354;CAC19016;CAC19085;CAC29238;CAD36477;CAD44639;CAD44945;CAD45638;CAD45639;CAD47817;CAD55599;CAD59236;CAD62435;CAE45568;CAH04455;CAH69440;CAI05916;CAI29455;CAI38569;CAI47597;CAJ01187;CAJ29895;CAJ43899;CAJ76979;EAW50813;EAW50814;EAW50815;EAW50816;NP_002116;Q30154;Q9TQE0 Hs.485130;Hs.534322;Hs.696211;Hs.736560 1655128;1675941;1677977;1679395;1680405;1691040;1741043;2115317;2118054;5113105 GDB:177509;RH15772;RH46825;RH69091;RH69092;RH76259;RH79846;RH80065;RH80800;RH80804 DR beta-5;DR-9;DR2-beta-2;DR9;FLJ76359;HLA-DRB;dw2 HLA class II histocompatibility antigen, DR beta 5 chain;HLA class II histocompatibility antigen, DR-5 beta chain;HLA class II histocompatibility antigen, DRB1-9 beta chain;MHC HLA-DR-beta cell surface glycoprotein;MHC HLA-DR-beta chain;MHC class II HLA beta chain;MHC class II antigen DRB1*9;MHC class II antigen DRB5;OTTHUMP00000029035;human leucocyte antigen DRB5;leukocyte antigen class II APPROVED protein-coding ENSG00000198502 HGNC:4953 09209 604776 REVIEWED 1353823 HLA-E major histocompatibility complex, class I, E HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 32055310 32060109 + 30457183 30461982 + 30489406 30494205 + 1580863;6480464;6907045 10064069;10203023;10366557;10546855;10557312;10684310;10707087;10799863;10809759;10898498;10982373;11137220;11270642;11289809;11432755;11463741;11513152;11578695;11714810;11751963;11774212;11920559;11932387;12232815;12411439;12414957;12427289;12461076;12461082;12477932;12526811;12590976;12618909;12734410;12836198;12874228;12929994;1316930;1401923;14595379;14734748;14965316;15078178;15226423;1530866;15316337;15383281;15489334;15496202;15620456;15631661;15638726;15681828;15751767;15829309;15952123;16003246;16034073;16091223;16169070;16224817;1624808;16272310;16341674;16344560;16362895;16570139;16573557;16702430;16868077;16920947;17157219;17164714;17257316;17445187;17554300;17767552;17768067;17953356;17961774;18057255;18083576;18270229;18292941;18296443;18332182;18438604;18445777;18448674;18653452;18692948;18725938;18759005;18808677;18832701;18987160;19140831;19149577;19180512;19198610;19239424;19253840;19318419;19430480;19449444;19555986;19571808;19571811;19643141;19696636;19770068;1977695;19780673;19847956;19851445;19860682;19860683;19912639;19915572;19935378;20012528;20062062;20113960;20125193;20167379;20237496;20380698;20452482;20546939;20587610;20667016;20673868;20702582;20848476;20877010;21057081;21165790;21179573;21186170;21208785;21299523;21332388;21399635;21410502;21518478;21699788;21738478;21744989;21762823;21861776;21890473;21890659;21900946;21906983;21953582;21963094;21969815;22032294;22050290;22103831;22103833;22103834;22175768;22177730;22190577;22256791;22301137;22345649;22427472;22486789;22490650;22495925;2249951;22503975;22505724;22576308;22594712;22640987;22688191;22688424;22797727;22797925;22844345;22883433;22898188;22927436;22961001;22980333;23039207;23362868;23377987;23395341;23511034;23625177;23786553;23811951;23994719;24006284;24011128;24105714;24166486;24196788;24280982;2438694;24654937;2789433;2825194;3131426;3260916;7539755;7621073;7751618;7913356;8084338;8125298;8493575;8612235;8671651;8877415;9052838;9103419;9103421;9120272;9154460;9218527;9263011;9373217;9427624;9486650;9545232;9582271;9586638;9605335;9660937;9751712;9754572;9815261;9840288;9886400;9894856 3133 A8K8M6;O19682;P13747;Q6DU44 AB014080;AB088094;AB103600;AB202091;AB209870;ABBA01038047;AF523274;AF523275;AF523276;AF523277;AF523278;AF523279;AF523280;AF523281;AF523282;AF523283;AJ002533;AJ002534;AJ293263;AJ293264;AJ715787;AK098434;AK225048;AK292391;AK296822;AK298695;AK300906;AK301125;AK314411;AK316327;AL662822;AL662873;AL844213;AMYH02013433;AY216681;AY221103;AY645724;AY645725;AY645726;AY645727;AY645728;AY645729;AY645730;AY645731;AY645732;AY645733;AY645734;AY645735;AY645736;AY645737;AY645738;AY645739;AY645740;AY645741;BA000025;BC002578;BC004297;BC040479;BM791769;BX538084;BX936369;CA439575;CD366016;CH471081;CR382280;CR762481;CR936916;DA832616;L78455;L78934;L79943;M16714;M20022;M21533;M31183;M32506;M32507;M32508;NM_005516;X56841;X64879;X64880 AAA36305;AAA52655;AAA57146;AAA59835;AAA63223;AAA63224;AAA63225;AAF25962;AAH02578;AAH04297;AAH40479;AAM74969;AAM74970;AAM74971;AAM74972;AAM74973;AAM74974;AAM74975;AAM74976;AAM74977;AAM74978;AAO34408;AAO37688;AAT73207;AAT73208;AAT73209;AAT73210;AAT73211;AAT73212;AAT73213;AAT73214;AAT73215;AAT73216;AAT73217;AAT73218;AAT73219;AAT73220;AAT73221;AAT73222;AAT73223;AAT73224;ABM82817;ABM86003;BAB63328;BAC54925;BAD93107;BAE78609;BAF31260;BAF85080;BAG59393;BAG60853;BAG62542;BAG62719;BAH14698;CAA05526;CAA05527;CAA40172;CAA46098;CAA46099;CAC07212;CAC07213;CAD98008;CAG29392;EAX03290;EAX03291;EAX03292;NP_005507;P13747 Hs.650174 1735894;1772385;1773101;1792482;2143042;2161187;5021872;5022578;5022651;5037552 A008W41;D11S2921;D1S1423;D1S1925E;D8S2279;PMC151808P1;RH36163;RH45169;SHGC-31506;sY3084 DKFZp686P19218;EA1.2;EA2.1;HLA-6.2;MHC;QA1 HLA class I histocompatibility antigen, E alpha chain;HLA class I histocompatibility antigen, alpha chain E;MHC HLA-E alpha-1;MHC HLA-E alpha-2.1;MHC class I antigen E;OTTHUMP00000029214;lymphocyte antigen APPROVED protein-coding ENSG00000204592 HGNC:4962 00877 143010 REVIEWED 2303893 HLA-F-AS1 HLA-F antisense RNA 1 6 6 6 p22.1 31297807 31320259 - 29694378 29716826 - 29726601 29749049 - 14702039;19525953;19851445;22219177;8889548 285830 Q69YQ6 AA868186;ABBA01038036;AK092748;AL645939;AL669813;AL832418;AL844851;AMYH02013419;BM726335;BX005428;BX927182;BX927250;CH471081;CR753818;CR788234;NR_026972;NR_026973 CAH10612;EAX03228 Hs.646985 1654334;1675756;1790871;2143917;2146916;2220084;2220086;2220088;2220090;2220314;7184079;7184130 D6S2707;D6S2864;D6S2865;D6S2866;D6S2970;HLA-F;RH69296;RH71004;RH98629;STS-R00280 FLJ35429 APPROVED ncrna ENSG00000214922 HGNC:26645 16938 VALIDATED 1349823 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008] 6 6 p21.3 32546546 32557613 - 32578769 32589836 - 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AB007634;AB046526;AB049829;AB087875;AB087876;AB106127;AB176445;AB196528;AB512677;ABBA01028477;ABBA01028478;ABBA01028479;AC247048;AF010142;AF016225;AF017440;AF017441;AF028011;AF029267;AF029269;AF029270;AF029271;AF029272;AF029273;AF029274;AF029275;AF029277;AF029278;AF029279;AF029289;AF029290;AF029292;AF030439;AF049875;AF092562;AF101127;AF112876;AF121971;AF142444;AF142447;AF142449;AF142450;AF142452;AF142453;AF142454;AF142455;AF142456;AF142457;AF142458;AF142461;AF142462;AF142464;AF142467;AF142468;AF144105;AF169238;AF172070;AF172071;AF190132;AF191104;AF217961;AF225565;AF239244;AF243536;AF278701;AF291675;AF297459;AF327742;AF327743;AF330103;AF335231;AF352291;AF352292;AF352293;AF352296;AF363727;AF363728;AF373015;AF400066;AF406781;AF436097;AF439712;AF479570;AF491843;AF497643;AJ001252;AJ001253;AJ001254;AJ010982;AJ133492;AJ238154;AJ238410;AJ242985;AJ243327;AJ249626;AJ276711;AJ278491;AJ293861;AJ295845;AJ297583;AJ297585;AJ297586;AJ297587;AJ306419;AJ309930;AJ311892;AJ430192;AJ430382;AJ431718;AJ441130;AJ507782;AJ539472;AJ543433;AJ555156;AJ555541;AJ556173;AJ558180;AJ558181;AJ566209;AJ579780;AJ581744;AJ581747;AJ697892;AJ697893;AJ850053;AJ870972;AJ884667;AJ969417;AK289463;AK291987;AL137064;AL662842;AL713966;AL929581;AM000026;AM109975;AM109976;AM109977;AM109978;AM109979;AM109980;AM109981;AM109982;AM109984;AM109985;AM109986;AM109987;AM109988;AM109992;AM109993;AM109994;AM109996;AM109997;AM109999;AM110000;AM110001;AM233907;AM773422;AM910430;AM920688;AM933133;AY034875;AY036907;AY152671;AY158889;AY174180;AY174183;AY179369;AY259125;AY265414;AY271987;AY428811;AY429729;AY504815;AY504962;AY525097;AY626551;AY660006;AY663395;AY663400;AY663404;AY663405;AY663406;AY663408;AY663409;AY663411;AY663413;AY663414;AY663415;AY714542;AY730638;AY766103;AY770514;AY776333;AY912075;AY935719;AY961062;AY961063;AY961065;AY961066;AY961068;AY961072;AY961073;AY961076;AY961077;AY961078;BC007920;BC008403;BC018832;BC018834;BC018835;BC024269;BC031023;BC033827;BC108922;BM671866;CH471081;CR753309;CR753835;D45046;D49823;D64041;D86415;D86504;D89917;DQ002917;DQ060441;DQ090958;DQ112549;DQ140279;DQ179043;DQ235685;DQ333353;DQ525631;DQ835614;EF078990;EF495129;EU071688;EU716067;GQ245755;GQ245756;GQ245757;GQ245758;GU590986;GU811811;GU811812;GU811813;GU811814;GU811815;GU811816;GU811817;GU811818;GU811819;K02776;KJ534866;L02545;L06847;L10402;L14481;L22341;L23963;L27216;L27217;L29082;L34025;L42143;L76133;L79973;M11161;M11867;M13278;M14191;M14661;M14662;M15069;M15074;M16957;M16958;M16959;M17378;M17381;M17384;M20138;M20430;M20504;M21008;M22050;M25265;M25266;M26038;M27511;M27635;M27645;M28583;M28584;M30179;M33600;M35003;M35005;M57599;M60216;M63196;M63202;M63337;M63338;M64794;M81170;M84446;M86694;M94460;M96128;NG_002392;NG_002432;NG_002433;NG_029921;NM_001243965;NM_002124;S69987;U02561;U09201;U24179;U26691;U33325;U36571;U36836;U37582;U45999;U56640;U59460;U63802;U65585;U88135;U95817;X00699;X00700;X02902;X03069;X16649;X52451;X64546;X74343;X88854;X99840;XM_006710243;XM_006725752;XM_006725860;XR_430944;XR_430980;Y09665;Y15404;Y17272;Y17273;Z38072;Z84489 AAA03142;AAA17992;AAA35775;AAA35776;AAA36273;AAA36274;AAA36279;AAA36280;AAA36281;AAA36289;AAA36290;AAA36295;AAA36298;AAA51400;AAA52321;AAA52324;AAA53174;AAA57259;AAA57260;AAA59481;AAA59680;AAA59681;AAA59713;AAA59777;AAA59779;AAA59780;AAA59781;AAA59782;AAA59789;AAA59794;AAA59798;AAA59799;AAA59800;AAA59801;AAA59805;AAA59808;AAA59809;AAA59810;AAA59817;AAA59827;AAA59831;AAA59832;AAA59842;AAA67104;AAA67123;AAA67990;AAA72783;AAA74994;AAA75372;AAA75387;AAA79205;AAA79784;AAA79830;AAA81550;AAA87226;AAA91837;AAA91986;AAA93191;AAA93192;AAA99889;AAB06950;AAB08761;AAB59623;AAB63317;AAB70217;AAB70554;AAB70555;AAB81176;AAB92519;AAB94613;AAC02715;AAC05276;AAC41708;AAC41709;AAD00817;AAD03597;AAD14052;AAD16437;AAD24059;AAD29581;AAD31288;AAD31291;AAD31293;AAD31294;AAD31296;AAD31297;AAD31298;AAD31299;AAD31300;AAD31301;AAD31302;AAD31305;AAD31306;AAD31308;AAD31311;AAD31312;AAD38374;AAD43827;AAD51314;AAD51969;AAD51970;AAF03162;AAF08286;AAF32310;AAF59946;AAF65477;AAF65479;AAF65480;AAF65481;AAF65482;AAF65483;AAF65484;AAF65485;AAF65486;AAF65487;AAF65488;AAF65498;AAF65499;AAF65501;AAF65542;AAF87751;AAG00413;AAG17449;AAH07920;AAH08403;AAH24269;AAH31023;AAH33827;AAI08923;AAK08492;AAK08493;AAK08504;AAK20873;AAK27708;AAK27709;AAK27710;AAK27713;AAK51524;AAK51525;AAK54252;AAK61607;AAK67648;AAK85431;AAK91825;AAK96249;AAL30416;AAL35224;AAL40069;AAL40075;AAM09473;AAM09543;AAM18713;AAN38832;AAO17052;AAO17055;AAO23240;AAO49837;AAP21611;AAP21813;AAP23231;AAR10883;AAR29079;AAR98646;AAR98758;AAS19443;AAT72340;AAU44812;AAU87979;AAU87993;AAU88003;AAU88005;AAU88008;AAU88014;AAU88018;AAU88023;AAU88029;AAU88033;AAU88035;AAV28303;AAV34808;AAV52249;AAW47394;AAW57989;AAX33315;AAX63450;AAX63451;AAX63453;AAX63454;AAX63456;AAX63460;AAX63461;AAX63464;AAX63465;AAX63466;AAY17288;AAY21682;AAY59543;AAY96423;AAZ16488;AAZ76539;ABA06601;ABB52004;ABC59115;ABF74596;ABH03635;ABK56700;ABP01682;ABS87347;ACE63272;ADD97875;ADE73096;ADE73097;ADE73098;ADE73099;ADE73645;ADE73646;ADE73647;ADE73648;ADE73649;ADE73650;ADE73651;ADE73652;ADE73653;ADQ31887;AHW56506;BAA08086;BAA08628;BAA10906;BAA13086;BAA13099;BAA20564;BAA22609;BAB03347;BAB16681;BAC02938;BAC02939;BAC66086;BAD15071;BAD80735;BAF82152;BAF84676;BAH85282;CAA04626;CAA04627;CAA04628;CAA09450;CAA25295;CAA25296;CAA26660;CAA26873;CAA34642;CAA36690;CAA45844;CAA52390;CAA61324;CAA68151;CAA70858;CAA75604;CAA76721;CAA76722;CAA86217;CAB41972;CAB42824;CAB45249;CAB56284;CAB56638;CAB76922;CAB87811;CAB95662;CAC05373;CAC08181;CAC08823;CAC08825;CAC08826;CAC08827;CAC19360;CAC32843;CAC33572;CAC44767;CAD22866;CAD23046;CAD24479;CAD29646;CAD47818;CAD62436;CAD65908;CAD87537;CAD88257;CAD89003;CAD90053;CAD90054;CAD92860;CAE30289;CAE46444;CAE46451;CAG27025;CAG27026;CAH61416;CAI35917;CAI59633;CAI94542;CAJ00865;CAJ33582;CAJ33583;CAJ33584;CAJ33585;CAJ33586;CAJ33587;CAJ33588;CAJ33589;CAJ33591;CAJ33592;CAJ33593;CAJ33594;CAJ33595;CAJ33599;CAJ33600;CAJ33601;CAJ33603;CAJ33604;CAJ33606;CAJ33607;CAJ33608;CAJ80873;CAO79098;CAP45391;CAP47342;CAP69806;EAX03633;NP_001230894;NP_002115;P01911;P01912;P04229;P20039;Q29974;Q30134;Q30167;Q5Y7A7;Q95IE3;Q9GIY3;XP_006710306;XP_006725815;XP_006725923 Hs.534322;Hs.696211;Hs.736560 1655128;1675941;1677800;1677977;1679395;1680405;1680767;1684164;1688891;1691040;1741043;1744493;1794500;1854390;2106305;2106307;2115317;2118054;2142838;2155163;2161829;2183992;2189723;5113105 D6S2805;D6S2878;GDB:177509;GDB:458708;M2_2_36;PMC316580P1;RH15772;RH46799;RH46825;RH69063;RH69085;RH69091;RH69092;RH69107;RH70404;RH76259;RH79846;RH80065;RH80800;RH80804;RH93154;SHGC-35283;STS-H52245;STS-V00522 DR-16;DR-8;DR1;DR16;DR5;DR8;DRB1;DRw10;DRw11;DRw8;DW2.2/DR2.2;FLJ75017;FLJ76359;HLA-DR1B;HLA-DRB;HLA-DRB1*;SS1 HLA class II antigen beta chain;HLA class II histocompatibility antigen, DR-1 beta chain;HLA-DR-beta 1;MHC class II HLA-DR beta 1 chain;MHC class II HLA-DR-beta cell surface glycoprotein;MHC class II HLA-DRw10-beta;MHC class II antigen;MHC class II antigen HLA-DR13;OTTHUMP00000029282;human leucocyte antigen DRB1;leucocyte antigen DR beta 1 chain;leucocyte antigen DRB1;lymphocyte antigen DRB1 APPROVED protein-coding ENSG00000196126 HGNC:4948 08349 126200;142857;180300;181000 REVIEWED 1345133 HLA-F major histocompatibility complex, class I, F This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31294546 31298502 + 29691117 29695073 + 29723340 29727296 + 1580863;6480464;6907045 10366557;10546855;10605026;10684310;10707087;10727083;10799863;10982373;11169396;11289809;11463741;11578695;11751963;11932387;12414957;12427289;12477932;12526811;12734410;12836198;12874228;1316930;14574404;14595379;14607927;14702039;14705989;14965316;15078178;15638726;16091223;16185322;16272310;16341674;16570139;16702430;16709803;16868077;1688605;1707659;17157219;17971048;18057255;18296443;18438604;18653452;18658158;18725938;18808677;18941505;19149577;19449444;19525953;19555986;19622345;19643141;19664746;19770068;19847956;19851445;19946888;20012528;20237496;20380698;20483783;20593013;20702582;20865824;21165790;21762823;21861776;21890473;21906983;21963094;21987572;22103831;22103833;22103834;22175768;22219177;22301137;22412388;22490650;22503975;22505724;22544725;22844345;22980333;23542057;23851683;24018270;24816145;2789433;7539755;7621073;7913356;8084338;8125298;8493575;8518796;8612235;8671651;8877415;9052838;9089112;9120272;9247579;9263011;9373217;9545232;9582271;9586638;9751712;9840288;9887353 3134 B4DT81;B7Z760;D0EV57;F6T2Q8;H0Y4J4;H0Y842;P30511;Q5JZ48;Q6ZUW0 AB011820;AB088082;AB103588;AB201549;ABBA01038036;AF055066;AF523284;AF523285;AF523286;AF523287;AF523288;AF523289;AF523290;AF523291;AF523292;AF523293;AF523294;AF523295;AF523296;AF523297;AK096962;AK125274;AK225185;AK298704;AK300090;AK301488;AK302420;AK303670;AK309156;AL022723;AL645939;AL669813;AL844851;AMYH02013419;AY216682;AY221102;AY253269;AY253270;AY253271;AY328516;AY645742;AY645743;AY645744;AY645745;AY645746;AY645747;AY645748;AY645749;AY645750;AY645751;AY645752;AY645753;AY645754;AY645755;AY645756;AY645757;AY645758;AY645759;BA000025;BC009260;BC062991;BM798587;BX005428;BX927250;CA436948;CB528356;CD365590;CD369507;CH471081;CR753818;CR759790;CT002787;D78595;DQ367723;GQ891552;NG_012009;NM_001098478;NM_001098479;NM_018950;X17093;XM_005249054;XM_005272809;XM_005274960;XM_005275115;XM_005275390;XM_005275547;XM_005275548;XM_006726089;XM_006726090;XM_006726091;XM_006726092 AAC24827;AAH09260;AAH62991;AAM74979;AAM74980;AAM74981;AAM74982;AAM74983;AAM74984;AAM74985;AAM74986;AAM74987;AAM74988;AAM74989;AAM74990;AAM74991;AAM74992;AAO34407;AAO37689;AAO86773;AAO86774;AAO86775;AAP94210;AAT73225;AAT73226;AAT73227;AAT73228;AAT73229;AAT73230;AAT73231;AAT73232;AAT73233;AAT73234;AAT73235;AAT73236;AAT73237;AAT73238;AAT73239;AAT73240;AAT73241;AAT73242;ABD38924;ACX50639;BAA32747;BAB63337;BAC54915;BAC86108;BAE78596;BAF31252;BAG53400;BAG60861;BAG61893;BAG63725;BAG64668;BAH13496;CAA34947;CAB46623;CAI20359;CAI20360;EAX03223;EAX03224;EAX03225;EAX03226;EAX03227;NP_001091948;NP_001091949;NP_061823;P30511;XP_005249111;XP_005272866;XP_005275017;XP_005275172;XP_005275447;XP_005275604;XP_005275605;XP_006726152;XP_006726153;XP_006726154;XP_006726155 Hs.519972 1654334;2125617;2146916;2189639 D6S2269;RF;RH71004;STS-R00280 CDA12;HLA-5.4;HLA-CDA12;HLAF HLA F antigen;HLA class I histocompatibility antigen, alpha chain F;HLA class I molecule;MHC class I antigen;MHC class I antigen F;MHC class Ib antigen;OTTHUMP00000109209;OTTHUMP00000109210;OTTHUMP00000109211;leukocyte antigen F APPROVED protein-coding ENSG00000204642 HGNC:4963 00884 143110 REVIEWED 1349235 HLA-H major histocompatibility complex, class I, H (pseudogene) This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. This gene displays extensive variation. [provided by RefSeq, May 2010] 6 6 6 p21.3 31453521 31456982 + 29855383 29858856 + 29887760 29891080 + 1580863;6480464;7240710 14702039;1517564;15350465;15359910;20237496;21145461;21906983;22412388;2294403;2329283;24816145;6461010;9162021;9866194 3136 P01893 AB023057;ABBA01038038;AK090500;AK299998;AK308374;AL645929;AL671561;AL845454;AMYH02013425;BX284699;BX927141;CR388220;CT009496;CT009517;M31944;M32104;M32105;M32106;M32107;NR_001434 BAG52173;BAG61817;P01893 Hs.728808 1786134;5020447 RH70531;SHGC-172558 HLAHP APPROVED pseudo HGNC:4965 104300;176100;176200;235200;612635;614193 REVIEWED 1342604 HLA-J major histocompatibility complex, class I, J (pseudogene) This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. [provided by RefSeq, May 2010] 6 6 6 p21.31 31571953 31575938 + 29973748 29977733 + 30005971 30009956 + 1580863;6480464 12477932;1602142;16344560;20593013;21900946;21906983;23083632;2497062 3137 Q30175 AB023056;ABBA01038041;AL645935;AL669914;AL671277;AL845454;AMYH02013426;BC020891;BC062324;BC089454;BX005091;BX088647;BX120004;BX927229;CR388205;CR759763;CR759960;DA965044;M80468;M80469;M80470;NR_024240 AAA66955 Hs.720762 1786134;1852219;5020447;5024339 RH66830;RH70531;SHGC-172558;STS-M80468 CDA12;D6S203;HLA-59;HLA-CDA12;MGC105145;MGC71446 APPROVED pseudo HGNC:4967 REVIEWED 1350973 HLA-K major histocompatibility complex, class I, K (pseudogene) 6 6 6 p21.3 31492603 31495775 + 29894436 29897616 + 29926659 29929839 + 1517564;16868077;19851445 3138 AB023056;ABBA01038039;AL645935;AL671277;AL845454;AMYH02013425;BA000025;BX005091;CR382333;CR388220;CR759913;M96335;NG_015982 1681923;1770879;1794508;1852219 D6S1105E;PMC316580P5;RH80274;STS-M80468 HLA-70;HLA70;HLAK pseudo HGNC:4969 INFERRED 1354336 HLA-L major histocompatibility complex, class I, L (pseudogene) 6 6 6 p21.3 31825554 31832941 + 30227339 30234728 + 30259562 30266951 + 11181995;12477932;1517564;16344560;16868077;19851445 3139 Q6ZSK9 ABBA01038041;AK127349;AL662782;AL662832;AL844220;AMYH02013427;BC139904;BC141846;BX248419;BX927189;CH471081;CR388382;DA108297;M96338;NR_027822 AAI39905;AAI41847;BAC86939;EAX03278;EAX03279 Hs.656020 FLJ45422;HLA-92;HLA92;HLAL;MGC164773;MGC167006 APPROVED pseudo ENSG00000243753 HGNC:4970 VALIDATED 1347571 HLA-N major histocompatibility complex, class I, N (pseudogene) 6 6 6 p21.3 31917046 31918010 + 30318851 30319815 + 30351074 30352038 + 10452889;1517563 267014 ABBA01038041;AL662795;AL662831;AL773535;AMYH02013430;BX294158;BX927214;CR759281;CR759928;M96329;NG_009940 HLA-30 pseudo HGNC:19406 INFERRED 1349267 HLA-S major histocompatibility complex, class I, S (pseudogene) 6 6 6 p21.3 32951709 32952627 - 31349346 31350264 - 31381569 31382487 - 10452889;1517563 267015 ABBA01038073;AL669854;AL671883;AL845443;AMYH02013449;BX119958;CR318637;M96339;NG_009941 1721383;1790833;1790997;2106155;2159692;7183519;7184115;7184138;7185971;7185973 D6S2673;D6S2810;G59693;MIB;RH46102 HLA-17 pseudo HGNC:19395 INFERRED 1342820 HLA-P major histocompatibility complex, class I, P (pseudogene) 6 6 6 p21.2 31370954 31373989 + 29767821 29770856 + 29800044 29803079 + 10557312;1517563 352963 ABBA01038036;AL645939;AL671561;AL844851;AMYH02013420;BX005428;BX927141;CR759769;CR788234;CR925767;M96333;NG_002731 2220094 D6S2854 C6orf101;HLA-90;dJ377H14.3 pseudo HGNC:21196 INFERRED 1351895 HLA-U major histocompatibility complex, class I, U (pseudogene) 6 6 6 p21.3 31499707 31500823 + 29901541 29902657 + 29933764 29934880 + 10557312;1517563 352965 AB023056;ABBA01038039;AL645935;AL671277;AL845454;AMYH02013425;BX005091;CR382333;CR388220;CR759913;M96330;NG_015992 2117226;2155625 D6S2033;RH46786 HLA-21 pseudo HGNC:23477 INFERRED 1347423 HLA-G major histocompatibility complex, class I, G HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31397875 31402019 + 29794756 29798899 + 29826979 29831122 + 1580863;5144132;5144145;5144121;5144066;5144114;5144118;5144131;6480464;6907045;7240710 10706505;15611928;19624485;19775370;20044437;20487636;21087648 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0272;9129971;9144223;9218527;9221758;9228302;9263011;9373217;9373856;9405670;9531263;9539768;9545232;9582271;9586638;9637505;9665340;9684993;9751712;9777333;9840288;9855710;9933109 3135 P17693;Q29897;Q31611;Q5RJ85;Q6DU14 AB088083;AB201550;ABBA01038036;AF020714;AF055066;AF071017;AF071018;AF071019;AF071020;AF071021;AF071022;AF196177;AF196178;AF226990;AF312697;AF436089;AF523298;AF523300;AF523301;AF523302;AF523303;AF523304;AF523305;AF523306;AF523307;AF523308;AF523309;AF523310;AF523311;AK093478;AK302054;AL022723;AL551999;AL645929;AL671561;AMYH02013420;AY359818;AY645760;AY645761;AY645762;AY645763;AY645764;AY645765;AY645766;AY645767;AY645768;AY645769;AY645770;AY645771;AY645772;AY645773;AY645774;AY645775;AY645776;AY661647;AY661648;AY661649;AY661650;AY661651;AY661652;AY667429;AY667430;AY667431;AY667432;AY667433;AY672592;AY672593;AY672594;AY672595;AY672596;AY672597;AY672598;AY675175;AY675176;AY675177;AY675178;AY675179;AY675180;AY675181;AY675182;BA000025;BC021708;BX001005;BX247949;BX927141;CH471081;CR759769;CR788234;CR925767;CT009517;D67005;D67008;D67011;D78000;DC397107;J03027;L07784;L20777;L78072;L78073;M32800;M90683;M90684;M90685;M90686;NG_029039;NM_002127;U58024;U58025;U58026;U58027;U58028;U58029;U58094;U65246;U88244;U97035;U97036;U97037;U97038;U97039;X17273;X60983;XM_006715080;XM_006725041;XM_006725700;XM_006725909 AAA17890;AAA52673;AAA58653;AAA58654;AAA59836;AAA59846;AAA98745;AAB59351;AAC04369;AAC04370;AAC04371;AAC04372;AAC04373;AAC04374;AAC04375;AAC24826;AAC25569;AAC25570;AAC25571;AAC25572;AAC25573;AAC25574;AAC50997;AAC51855;AAC51856;AAC51857;AAC51858;AAC51859;AAC51863;AAD45397;AAF25961;AAF37570;AAH21708;AAK38203;AAL30408;AAL40074;AAM74993;AAM74994;AAM74995;AAM74996;AAM74997;AAM74998;AAM74999;AAM75000;AAM75001;AAM75002;AAM75003;AAM75004;AAM75005;AAQ83724;AAT73243;AAT73244;AAT73245;AAT73246;AAT73247;AAT73248;AAT73249;AAT73250;AAT73251;AAT73252;AAT73253;AAT73254;AAT73255;AAT73256;AAT73257;AAT73258;AAT73259;AAT74562;AAT74563;AAT74564;AAT74565;AAT74566;AAT76793;AAT76794;AAT76795;AAT76796;AAT76797;AAT76798;AAT76964;AAT76965;AAT76966;AAT76967;AAT76968;AAT76969;AAT76970;AAT81378;AAT81379;AAT81380;AAT81381;AAT81382;AAT81383;AAT81384;AAT81385;ABM87808;ABW03643;BAA11031;BAA11032;BAA11033;BAA11185;BAB63336;BAC54916;BAE78597;BAG63444;CAA35174;CAA43298;CAB46612;EAX03231;EAX03232;EAX03233;EAX03234;EAX03235;EAX03236;NP_002118;P17693;XP_006715143;XP_006725104;XP_006725763;XP_006725972 Hs.512152 1743029;1743229;1745701;1745703;1745705;1745707;1745709;1745711;5110546;5120590 GDB:250402;GDB:306049;GDB:361668;GDB:632502;GDB:632559;GDB:632567;GDB:632571;GDB:632598;GDB:632608;RH46693 MHC-G HLA G antigen;HLA class I histocompatibility antigen, alpha chain G;HLA class I molecule;HLA-G histocompatibility antigen, class I, G;MHC class I antigen;MHC class I antigen G;OTTHUMP00000029218;OTTHUMP00000029220;OTTHUMP00000033527;OTTHUMP00000159507;b2 microglobulin APPROVED protein-coding ENSG00000204632 HGNC:4964 00834 142871;600807 REVIEWED 1347312 HLA-T major histocompatibility complex, class I, T (pseudogene) 6 6 6 p21.3 31462252 31464754 + 29864220 29866724 + 29896443 29898947 + 10557312;1517563;16292086;16331567;16829309 352964 AB023057;ABBA01038038;AL645929;AL645935;AL845454;AMYH02013425;BX284699;BX927141;CR388220;CT009496;CT009517;M96340;NG_015985 HLA-16 pseudo HGNC:23478 INFERRED 1349746 HLA-V major histocompatibility complex, class I, V (pseudogene) 6 6 6 p21.3 31362897 31363871 + 29759530 29760527 + 29791753 29792750 + 10557312;1517563;1517564 352962 ABBA01038036;AL645939;AL671561;AL844851;AMYH02013420;BX005428;BX927182;CR759769;CR788234;CR925767;M96332;NG_002729 1678407;1701310 RH104284;RH80527 HLA-75;dJ377H14.4 pseudo HGNC:23482 INFERRED 1344404 HLA-X major histocompatibility complex, class I, X (pseudogene) 6 6 6 p21.3 33027553 33028197 - 31429623 31430267 - 31461846 31462490 - 8462994;9799336 267016 ABBA01038075;AL645933;AL662866;AMYH02013452;BX005439;D88576;NG_009943 pseudo HGNC:19385 INFERRED 2292052 HLA-Y major histocompatibility complex, class I, Y (pseudogene) p21.33 10551419;15219387;21209280 100127173 AY344232;AY436316;Y18651 HLA-DEL;HLA-GOR pseudo HGNC:33913 1349791 HLA-Z major histocompatibility complex, class I, Z (pseudogene) 6 6 6 p21.3 34413067 34413154 + 32864179 32864266 + 32896402 32896489 + 8568858 267017 ABBA01038134;AL669918;AL671681;AL935042;AMYH02013475;BX088556;BX927138;CR752645;CR759798;CR936913;NG_009944;X87344 HLA-Z1 pseudo HGNC:19394 INFERRED 6481124 HLCS-IT1 HLCS intronic transcript 1 (non-protein coding) q22.13 100874294 AP000699;BX089035 Hs.663296 bde1 ncrna HGNC:41343 1343069 HLA-W major histocompatibility complex, class I, W (pseudogene) 6 6 6 p21.3 31521822 31525027 + 29923611 29926835 + 29955834 29959058 + 10557312;1517563;20205591 352966 AB023056;ABBA01038040;AL645935;AL671277;AL845454;AMYH02013426;BX005091;CR382333;CR388220;CR759762;CR759913;M96334;NG_015995 HLA-80 pseudo HGNC:23425 INFERRED 6481576 HLFP1 hepatic leukemia factor pseudogene 1 6 6 132996024 132996522 + 132674885 132675383 + 100873813 ABBA01025878;AL032821;AMYH02014502;NG_032376 pseudo HGNC:41922 INFERRED 1347027 HLF hepatic leukemia factor This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 q22 49804605 49864715 + 53342321 53402426 + 55264960 55325065 + 1580863;6480464 10073576;10202154;10216071;12477932;12700034;1386162;15070701;1516826;15489334;16206189;16215946;16344560;17183364;18239067;20201926;20211142;20519628;21072044;21988832;23263486;23415677;7556072;8065331;8164688;8608207;8619474;8639829;8889549;9110174;9704006;9742120 3131 I3L386;I3L4R4;Q16534 AA021027;ABBA01041287;AC007638;AF035305;AK074289;AK290043;AK295726;AK315079;AMYH02033647;AMYH02033648;BC036093;CH471109;CR541672;DA104709;DA637609;M95585;NM_002126;X68985;XM_005257269 AAA52675;AAH36093;BAF82732;BAG37547;BAG58567;CAA48777;CAG46473;EAW94544;NP_002117;Q16534;XP_005257326 Hs.196952 1666541;1758303;1764125;1850413;2119563;2143285;2147716;2173729;2178041 RH35952;RH69615;RH69641;RH78377;SHGC-11266;SHGC-147774;SHGC-147997;STS-M95585;WI-7705 MGC33822 APPROVED protein-coding ENSG00000108924 HGNC:4977 00797 142385 REVIEWED 1320489 HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011] 21 21 21 q22.13 23321570 23560921 - 38123189 38362545 - 36750888 36990245 - 1580863;6480464;6907045;7240710;8554872;8699517 10190325;10830953;11735028;12124727;12477932;14613969;15489334;16344560;16780588;17417720;17904341;18029348;18429047;18452652;19048367;19157941;19695181;19740736;19806568;19914215;20026029;20085763;20095979;20153287;20592104;20688500;21044950;21139048;21802411;21988832;22027809;23624957;24075901;24133061;24250222;24816145;24840043;6133032;7753853;7842009;8053691;8541348;8817339;9037601;9396568;9503011;9630604 3141 C9JCQ9;C9JD75;P50747 AB063285;ABBA01057404;ABBA01057405;ABBA01057406;ABBA01057407;ABBA01057408;AJ001864;AK307940;AK314189;AMYH02037787;AMYH02037788;AMYH02037789;AMYH02037790;AMYH02037791;AMYH02037792;AMYH02037793;AP000697;AP000698;AP000699;AP000700;AP000701;AP000702;AP000703;AP000704;AP001726;AP001727;BC060787;BI094308;BQ775124;CB049233;CH471079;D23672;D87328;DA334377;DB290499;H17102;KF457259;KF457263;KF457266;KF457267;KF511414;NG_016193;NM_000411;NM_001242784;NM_001242785;X80160;XM_005260953;XM_005260954;XM_005260955;XM_005260956;XM_006723993;XM_006723994;XM_006723995;XM_006723996 AAH60787;BAA04902;BAA13332;BAA89434;BAA95510;BAA95511;BAB68550;BAG36868;CAA05056;EAX09731;EAX09732;NP_000402;NP_001229713;NP_001229714;P50747;XP_005261010;XP_005261011;XP_005261012;XP_005261013;XP_006724056;XP_006724057;XP_006724058;XP_006724059 Hs.371350;Hs.732538 1336862;1654011;1659892;1666604;1666956;1671666;1706270;1707280;1707800;1708292;1728073;1735018;1754781;1757057;1759817;1854170;1854172;1857724;2126803;2155517;2157702;2162462;5022651 A005N28;D11S2921;D21S167;D21S1717E;G20353;G34795;G63307;SHGC-10480;SHGC-12620;SHGC-144428;SHGC-170058;SHGC-52086;SHGC-52136;SHGC-53043;SHGC-79242;SHGC-80685;SHGC-81133;SHGC-82126;SHGC-87607;SHGC-87611;SHGC-9592;SHGC-9910;WI-15188 HCS OTTHUMP00000109038;OTTHUMP00000109039;biotin apo-protein ligase;biotin--[acetyl-CoA-carboxylase] ligase;biotin--[methylcrotonoyl-CoA-carboxylase] ligase;biotin--[methylmalonyl-CoA-carboxytransferase] ligase;biotin--protein ligase;holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) APPROVED protein-coding ENSG00000159267 HGNC:4976 08360 253270;609018 REVIEWED 1323685 HLX H2.0-like homeobox ENCODES a protein that exhibits sequence-specific DNA binding; INVOLVED IN cell differentiation (inferred); embryonic digestive tract morphogenesis (inferred); enteric nervous system development (inferred); PARTICIPATES IN interleukin-12 signaling pathway; FOUND IN nucleus (inferred); INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; aflatoxin B1; all-trans-retinoic acid 1 1 1 q41 194272144 194277780 + 221052743 221058401 + 220879401 220885059 + 1580863;6480464;6484113 12477932;1283323;1349016;1375114;14702039;16344560;16436665;1672660;1676597;16902145;17110450;1712647;17532041;18029348;18402755;19038437;19295429;19362357;19459883;20008130;20554918;21224470;21890473;22014209;22303482;22897850;22989111;23243425;23251661;23888188;7680402;7806220;8094082;8095486;9073066;9665637 3142 F8VWZ5;Q14774 AB208812;ABBA01048071;AF217621;AK056326;AK127923;AK313298;AL445423;AMYH02002734;BC007294;BC033808;CH471100;DA951303;M60721;NM_021958;S56767;S56768;S56769;U14325;U14326;U14327;U14328;U14329 AAC51346;AAD13883;AAD13884;AAD13885;AAF65541;AAH07294;AAH33808;ABM84231;ABM87760;BAD92049;BAG36105;BAG54598;EAW93288;EAW93289;NP_068777;Q14774 Hs.74870 1743063;1797688;2166980 GDB:251518;HLX1_2251;SHGC-32821 HB24;HLX1 H2.0-like homeo box 1;H2.0-like homeo box-1;H2.0-like homeobox 1;H2.0-like homeobox protein;OTTHUMP00000035459;OTTHUMP00000035460;h2.0-like homeo box 1 (drosophila);homeobox protein HB24;homeobox protein HLX1 protein-coding ENSG00000136630 HGNC:4978 00875 142995 VALIDATED 6481412 HLTF-AS1 HLTF antisense RNA 1 3 3 148804119 148820610 + 149086332 149102823 + 100873945 ABBA01058947;ABBA01058948;AC021059;AMYH02007883;HG496165;NR_046648 Hs.742423 RP11-464E15.4 APPROVED ncrna ENSG00000239718 HGNC:40554 PREDICTED 1319146 HLTF helicase-like transcription factor This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008] 3 3 3 q25.1-q26.1 147158179 147214609 - 148747904 148804341 - 149030117 149086554 - 1580863;6480464 10391891;11058586;11810028;11904375;12477932;12766908;12901794;15383276;15489334;15635413;16055720;16196087;17081983;17094449;17643375;18029348;18034322;18316726;18584949;18719106;18825407;19322201;19454010;19614770;19615732;19690564;19723507;19946888;19948885;20211142;20388495;20535496;20972266;21139048;21396873;21693764;21795603;21825151;21845734;21890473;21906983;21963094;21987572;21988832;22242598;22452792;22505724;22902628;23000965;23022380;23555860;23901102;24332808;24816145;25023518;25027693;7558014;7876228;8342330;8672239;9126292 6596 H7C5K0;Q05BZ6;Q14527 AB209052;ABBA01058948;AC021059;AI971472;AJ418064;AK291231;AMYH02007881;AMYH02007882;AMYH02007883;BC005260;BC014326;BC015498;BC030976;BC044659;CH471052;L34673;NM_003071;NM_139048;S64671;XM_005247724 AAA67436;AAB27691;AAH05260;AAH15498;AAH30976;AAH44659;ABZ92233;BAD92289;BAF83920;CAD10805;EAW78889;EAW78890;EAW78891;EAW78892;EAW78893;NP_003062;NP_620636;Q14527;XP_005247781 Hs.3068 1739913;1777280;2133623;2171490;2171492;2184719;5014808 A002A11;D3S2876E;D3S3493;G19843;SHGC-12604;SHGC-77432;STS-L34673 HIP116;HIP116A;HLTF1;RNF80;SMARCA3;SNF2L3;ZBU1 DNA-binding protein/plasminogen activator inhibitor 1 regulator;DNA-binding protein/plasminogen activator inhibitor-1 regulator;OTTHUMP00000215740;OTTHUMP00000215741;OTTHUMP00000215742;OTTHUMP00000215743;RING finger protein 80;SNF2-like 3;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 3;sucrose nonfermenting protein 2-like 3;sucrose nonfermenting-like 3 APPROVED protein-coding ENSG00000071794 HGNC:11099 04461 603257 REVIEWED 6481390 HLX-AS1 HLX antisense RNA 1 1 q41 220832763 220880140 - 16344560;20445134;21326311 100873924 ABBA01048071;ABBA01048072;ABBA01048073;AL445423;AMYH02002734;DA373928;DB286128;LK938655;NR_046901 Hs.645593 RP11-295M18.5 APPROVED ncrna ENSG00000257551 HGNC:42509 VALIDATED 6481324 HM13-AS1 HM13 antisense RNA 1 20 20 30155510 30161066 - 31567707 31573263 - 100874042 ABBA01019305;AL110115;AMYH02036896;HG511298;NR_046853 Hs.743198 RP3-324O17.2 APPROVED ncrna ENSG00000230613 HGNC:41940 PREDICTED 1603011 HMBOX1 homeobox containing 1 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN negative regulation of transcription, DNA-templated; FOUND IN cytoplasm; nucleus; INTERACTS WITH copper atom; copper(0); cyclosporin A 8 8 8 p21.1 27707732 27869989 + 28747911 28922456 + 28890394 29064939 + 6480464 12477932;14702039;15489334;16751776;16825764;18983639;19471022;19728927;19757162;20182437;20379614;21693764;21706044;21832049;21839858;21988832;22320217;22990118;23251661;23685356;23813958 79618 D3DSU2;E5RGZ2;E5RHH9;H0YBM8;H0YKJ1;H0YLF2;Q6NT76 ABBA01005610;ABBA01005611;ABBA01005612;ABBA01005613;ABBA01005614;AC040975;AC091558;AC108449;AK025269;AK096237;AK290683;AK295320;AK310959;AL832296;AMYH02017692;AMYH02017693;AY522342;BC009259;BC069242;BX648950;CH471080;DQ153248;DQ269478;DQ588862;DQ593186;KC877224;KF458725;KF458730;NM_001135726;NM_024567;XM_005273635;XM_005273636;XM_005273637;XM_005273638;XM_005273639;XM_005273640;XM_005273641;XM_006716396;XM_006716397;XM_006716398 AAH09259;AAH69242;AAS76643;AAZ81565;ABB82947;ABZ92410;BAB15099;BAF83372;BAG58297;EAW63496;EAW63497;EAW63498;EAW63499;EAW63500;EAW63501;EAW63502;NP_001129198;NP_078843;Q6NT76;XP_005273692;XP_005273693;XP_005273694;XP_005273695;XP_005273696;XP_005273697;XP_005273698;XP_006716459;XP_006716460;XP_006716461 Hs.563560;Hs.591836;Hs.598881 1661129;1662576;1700374;2112254;2112302;2158307;2166340;2187361 D11S4691;D8S2113;D8S2260;D8S2269;RH103807;RH46344;WI-20805;WI-5106 FLJ21616;HNF1LA;HOT1;PBHNF OTTHUMP00000163064;OTTHUMP00000225640;OTTHUMP00000225642;OTTHUMP00000225644;OTTHUMP00000225645;OTTHUMP00000225646;homeobox telomere-binding protein 1;homeobox-containing protein 1;homeobox-containing protein PBHNF protein-coding ENSG00000147421 HGNC:26137 07964 VALIDATED 5686932 HMBOX1-OT1 HMBOX1 overlapping transcript 1 (non-protein coding) p12 100861508 BE222849 miscrna HGNC:43631 1319013 HM13 histocompatibility (minor) 13 The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 26858423 26913551 + 30102213 30158178 + 31514410 31569569 + 1580863;6480464 11780052;12077416;12139484;12145199;12419218;12477932;12972007;14667819;14702039;14704149;14741365;14988012;15385547;15489334;15998642;16196087;16303743;16344560;16730383;16738546;16829952;16834339;16873890;17965014;18781797;19121997;19720873;19942855;19946888;20639865;21139048;21636854;21890473;21903422;21906983;21963094;21987572;22190034;22505724;22939629;24816145;25015289 81502 Q8TCT9 ABBA01019305;ABBA01019306;ABBA01019307;AF172086;AF483215;AF515663;AJ345029;AJ420895;AK074686;AK075283;AK314410;AL110115;AL121751;AMYH02036896;AY169310;AY169311;AY169312;BC008938;BC008959;BC062595;BI192962;BI552780;BQ707066;BQ890506;BU155406;CH471077;CQ783582;CS255962;DA087240;DQ168450;HI968237;HY026569;KF456879;NM_030789;NM_178580;NM_178581;NM_178582;XM_005260562 AAH08938;AAH08959;AAH62595;AAM22076;AAN77099;AAO12535;AAO12536;AAO12537;AAQ13609;ABA56163;ABM87205;BAC11138;BAC11519;BAG37032;CAC87790;CAD13132;CAF86750;CAJ75919;CBY88428;EAW76435;EAW76436;EAW76437;EAW76438;NP_110416;NP_848695;NP_848696;NP_848697;Q8TCT9;XP_005260619 Hs.373741 1689741;1699376;1712170;1847573;5014053;5015619;5022383;5022578 D11S3114;D1S1423;D1S3693;ECD04345;G54135;RH103275;RH79806;STS-D29243 H13;IMP-1;IMP1;IMPAS-1;MSTP086;PSENL3;PSL3;SPP;SPPL1;dJ324O17.1;hIMP1 IMPAS;OTTHUMP00000030527;OTTHUMP00000030528;OTTHUMP00000030530;OTTHUMP00000214528;intramembrane protease 1;minor histocompatibility antigen 13;minor histocompatibility antigen H13;presenilin-like protein 3;signal peptide peptidase beta;signal peptide peptidase like 1 APPROVED protein-coding ENSG00000101294 HGNC:16435 06166 607106 REVIEWED 733095 HMBS hydroxymethylbilane synthase This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 116113008 116121673 + 118955587 118964259 + 119084877 119093549 + 1358673;1580863;1578396;2301682;2301684;2301681;2301683;4144803;4144806;4144542;4144808;4144787;4145271;6480464;6907045;7240710;8554872;8699517 11940707;15823405;16211407;16600798;16839620;2809566;3963818;6688350;6721832;8563760;9860299 10453740;10494093;10502788;10602775;10657149;10782018;11013452;11030413;11071386;11157504;11202057;11399210;11831862;11857754;12372055;12406973;12477932;12555854;12773194;12917623;1301948;1427766;14669009;1496994;14970743;14995910;15003823;15489334;15643298;15669678;16211556;16390615;16712791;16817012;16935474;1714233;17207965;17298216;17298217;17459418;18004775;18029348;18070416;18405488;18406650;18554962;18627369;18936296;19021769;19138865;1914516;19207107;19292878;1961762;19656452;19656453;1981047;19913121;2025226;20301372;20536026;20580577;20628086;20978940;21139048;21669542;21832049;2227955;2243128;22748422;23811755;23815679;2609111;2789372;2864531;2875434;2915972;3422427;3816774;6930671;7592566;7757070;7821789;7866402;7916736;7962538;8081367;8103755;8262514;8262523;8268934;8270254;8270256;8340112;8401516;8825929;9199558;9225970;9463797;9654202 3145 F5GY90;F5H0P4;F5H226;F5H345;F5H4W5;F5H4X2;F5H4Y7;P08397 AB162702;ABBA01039679;AK000628;AK131072;AK290275;AK309544;AK310343;AMYH02025660;AMYH02025661;AP003391;AP003392;AW139390;BC000520;BC008149;BC019323;BF210364;BQ020524;BX647328;CB128006;CH471065;D10608;D28419;HQ731552;M18799;M18800;M60888;M95623;NG_008093;NM_000190;NM_001024382;NM_001258208;NM_001258209;S60381;X04217;X04808;X68018;XM_005271531;XM_005271532;XM_005271533 AAA60028;AAA60029;AAA60030;AAC60602;AAH00520;AAH08149;AAH19323;ADQ32697;ADX60069;BAA01463;BAA05785;BAD36778;BAF82964;CAA27801;CAA28499;CAA48156;EAW67447;EAW67448;EAW67449;EAW67450;NP_000181;NP_001019553;NP_001245137;NP_001245138;P08397;XP_005271588;XP_005271589;XP_005271590 Hs.82609 1647307;1720979;1740947;1741249;1741661;1741757;1742333;1742335;1742585;1742621;1743713;1743715;1743717;1743719;1743721;1743723;1743725;1743727;1743729;1743731;1743733;1767495;1792092;1792842;1851648;1853970;2108145;2191685 D11S4628;G02272;G59319;GDB:176383;GDB:179873;GDB:181636;GDB:185078;GDB:196345;GDB:196348;GDB:197909;GDB:198121;GDB:371404;GDB:371408;GDB:371412;GDB:371415;GDB:371419;GDB:371425;GDB:371431;GDB:371437;GDB:371443;GDB:371447;GDB:371450;HMBS;HMBS_8406;MARC_4999-5000:996679654:1;PMC136706P1;PMC165384P1;STS-M95623 PBG-D;PBGD;PORC;UPS Chester type;OTTHUMP00000238530;OTTHUMP00000238532;OTTHUMP00000238533;OTTHUMP00000238534;OTTHUMP00000238537;OTTHUMP00000238539;OTTHUMP00000238540;OTTHUMP00000238541;OTTHUMP00000238580;porphobilinogen deaminase;porphyria, acute;porphyria, acute, Chester type;pre-uroporphyrinogen synthase;uroporphyrinogen I synthase;uroporphyrinogen I synthetase APPROVED protein-coding ENSG00000256269 HGNC:4982 01440 176000;609806 REVIEWED 1604329 HMCES 5-hydroxymethylcytosine (hmC) binding, ES cell-specific ENCODES a protein that exhibits DNA binding (inferred); peptidase activity (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH 5-fluorouracil; copper(2+) sulfate; lead(0) 3 3 3 q21.3 127428466 127455235 + 128997680 129025029 + 129278837 129306186 + 6480464 12477932;15489334;19471022;19953087;21693764;21832049;21890473;21906983;21963094;22505724;23434322;23940030;23945014;24816145;8125298;8619474;8889548;9110174 56941 D6R9T3;D6RAI0;D6RAZ3;D6RGK7;E7EMP6;Q96FZ2 ABBA01020934;ABBA01020935;AC137695;AF035296;AF201934;AK025883;AK225264;AK297501;AK309891;AMYH02007638;AMYH02007639;AY007144;BC009993;BC010125;BC050686;BC088363;BU728549;CH471052;NM_001006109;NM_020187;XM_005247636;XM_005247637 AAF86870;AAH09993;AAH10125;AAH50686;AAH88363;ABM84010;ABM87350;BAG59914;EAW79265;EAW79266;NP_001006109;NP_064572;Q96FZ2;XP_005247693;XP_005247694 Hs.458320 1647985;1678533;1854077;2149065;2155005;2160648 A002R07;D3S3816;DBEST27818;HSC2JD062;RH98834;SHGC-4168 C3orf37;DC12;MGC111075;SRAPD1 ES cell-specific 5hmC-binding protein;OTTHUMP00000215384;OTTHUMP00000215385;OTTHUMP00000215386;OTTHUMP00000215387;OTTHUMP00000215388;OTTHUMP00000215392;SRAP domain-containing protein 1;UPF0361 protein C3orf37;chromosome 3 open reading frame 37;embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein;putative peptidase SRAPD1 APPROVED protein-coding ENSG00000183624 HGNC:24446 13119 VALIDATED 1344998 HMG1L high-mobility group (nonhistone chromosomal) protein 1-like 3147 HGNC:4992 1351924 HMG1P high-mobility group (nonhistone chromosomal) protein 1 pseudogene 3085 HGNC:4999 1605323 HMCN1 hemicentin 1 This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008] 1 1 1 q25.3-q31.1 158814385 159270786 + 185703683 186160085 + 185734551 186190953 + 6480464;7240710;8554872 11222143;12388743;14570714;14702039;15370542;15467524;16710414;16885922;17057786;17157600;17216616;17591627;19190085;19229767;19850743;19948975;20299368;22939629;22981695;23534349;24604465;9715689 83872 Q5TCP6;Q96RW7 ABBA01027706;ABBA01027707;ABBA01027708;ABBA01027709;ABBA01027710;ABBA01027711;AF156100;AJ306906;AK027344;AK056336;AK056557;AK096452;AL118512;AL121996;AL133515;AL133553;AL135796;AL135797;AL391824;AL833232;AMYH02002309;BX928748;CH471067;CS161060;KF455090;NG_011841;NM_031935 AAK68690;BAB55049;BAB71154;BAB71216;CAC37630;CAH10605;CAJ30880;EAW91198;EAW91199;EAW91200;NP_114141;Q96RW7 Hs.58877 1336885;1337647;1337674;1338442;1338464;1340670;1342341;1671358;1680904;1689905;1752609;1781384;2117914;2173587;7186486 AL009939;D1S1194;D1S191;D1S2165;D1S254;D1S2848;D1S413;D1S444;D1S466;SHGC-1041;SHGC-106463;SHGC-106819;SHGC-3550;SHGC-58126 ARMD1;FBLN6;FIBL-6;FIBL6 OTTHUMP00000065631;fibulin 6;fibulin-6;hemicentin-1 APPROVED protein-coding ENSG00000143341 HGNC:19194 06509 603075;608548 REVIEWED 1350467 HMG20A high mobility group 20A ENCODES a protein that exhibits protein heterodimerization activity (inferred); INVOLVED IN chromatin modification (inferred); negative regulation of neuron differentiation (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; cyclosporin A; paracetamol 15 15 15 q24 54651392 54716096 + 77713018 77777945 + 77420695 77485603 + 1580863;6480464 10773667;12477932;14702039;15231748;15489334;16140033;16189514;16751776;18029348;19322201;20211142;20530487;20531441;21258344;21490949;21874001;22570500;22693455;23000965;23275563;23707952;23752268;24163370;24816145;8125298 10363 H0YK55;H0YKL0;H0YKM5;H0YM80;H0YMG2;H0YMS9;H0YNS8;Q9NP66 AB073664;ABBA01060566;AC090984;AF146222;AK001601;AK025664;AK096546;AK223100;AK297449;AK316281;AL355733;AL355737;AL355739;AL832087;AMYH02030852;AMYH02030853;AX877087;BC021959;BT006716;CH471136;NM_018200;XM_005254123 AAF66706;AAH21959;AAP35362;BAA91782;BAD96820;BAG59873;BAH14652;CAB90816;CAE89565;EAW99201;EAW99202;EAW99203;NP_060670;Q9NP66;XP_005254180 Hs.69594 1763551;2109395;2126632;2182038 D15S739;HMG20A_9095;SGC32715;SHGC-147252 FLJ10739;HMGX1;HMGXB1 HMG box domain containing 1;HMG box-containing protein 20A;HMG domain-containing protein 1;HMG domain-containing protein HMGX1;OTTHUMP00000184900;high mobility group protein 20A;high-mobility group 20A APPROVED protein-coding ENSG00000140382 HGNC:5001 16116 605534 PROVISIONAL 1626387 HMCN2 hemicentin 2 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN basement membrane (inferred); cell cortex (inferred); cell junction (inferred); INTERACTS WITH indometacin; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q34.11 103680254 103847667 + 133223389 133309510 + 130265879 130434123 + 6480464;8554872 12388743;12477932;14702039;18854154;18976975;20379614 256158 A2A3K3;H0Y3X1;H7BZI5;H7C0N8;H7C3T8;Q8NDA2 ABBA01012042;ABBA01012046;ABBA01012047;ABBA01012048;ABBA01043971;ABBA01043972;ABBA01043973;AK074396;AK093583;AK128020;AK128680;AL354898;AL360004;AL834139;AMYH02021760;AMYH02021761;AMYH02021762;AUXG01000072;BC146865;FP565345;KF458942;NM_001291815;XM_003960462;XM_006710218;XM_006710219;XM_006710220;XM_006717351;XM_006726506;XM_006726507;XM_006726508;XM_006726509 AAI46866;BAB85069;BAC04201;BAC87234;CAD38854;NP_001278744;Q8NDA2;XP_003960511;XP_006710281;XP_006710282;XP_006710283;XP_006717414;XP_006726569;XP_006726570;XP_006726571;XP_006726572 Hs.32194;Hs.512559 1763569;1764099;1779302;5014053;5015961 D15S1477;D1S3693;SHGC-147269;SHGC-147754;SHGC-153301 DKFZp434P0216;FLJ23816;FLJ46139;FLJ46844 hemicentin-2;hemicentin-2-like protein-coding ENSG00000148357 HGNC:21293 INFERRED 1343766 HMGA1P1 high mobility group AT-hook 1 pseudogene 1 X X X p22 30893304 30895116 + 26766041 26767828 + 26747924 26749711 + 11063803;11672774;12727900 203477 ABBA01072570;AC107293;AF116914;AMYH02039069;NG_002324 HMGA1L1;HMGIYL1 APPROVED pseudo HGNC:13321 INFERRED 1347672 HMG20B high mobility group 20B ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); INVOLVED IN blood coagulation (inferred); chromatin modification (inferred); negative regulation of protein sumoylation (inferred); FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; cyclosporin A 19 19 19 p13.3 3509760 3515897 + 3572936 3579081 + 3572945 3579083 + 6480464 10486208;10773667;11207365;11997092;12032298;12083779;12083780;12234937;12477932;12493763;12809554;14702039;15057824;15325272;15489334;16079794;16140033;16169070;16189514;17961134;18816836;19471022;20530487;21258344;21399666;21693764;21832049;22570500;22939629;23752268;24816145 10362 B5MDG7;C9J8X5;C9JQA7;C9K049;F8WES5;K7EJR8;Q9P0W2 ABBA01002832;ABBA01002833;AC005786;AC116968;AF072165;AF072836;AF146223;AF288679;AF318366;AF331191;AK090733;AK129638;AK289500;AK310601;AK314201;AL355691;AL355702;AL355703;AL355709;AMYH02035257;AMYH02035258;BC002552;BC003505;BC004408;BC021585;BC134413;BI561304;CH471139;CR456754;NM_006339 AAC26860;AAC62837;AAF66707;AAF76253;AAG01174;AAG60060;AAH02552;AAH03505;AAH04408;AAH21585;AAI34414;AAL55873;ABZ92463;BAC03510;BAF82189;CAB90809;CAG33035;EAW69306;EAW69307;EAW69308;NP_006330;Q9P0W2 Hs.406534 1673457;1778897;2166659 RH41867;RH44855;STS-H97929 BRAF25;BRAF35;FLJ26127;HMGX2;HMGXB2;PP7706;SMARCE1r;SOXL;pp8857 BRCA2-associated factor 35;HMG box domain containing 2;HMG box-containing protein 20B;HMG domain-containing protein 2;HMG domain-containing protein HMGX2;OTTHUMP00000197361;OTTHUMP00000197362;OTTHUMP00000197364;SMARCE1-related protein;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E, member 1-related;Sox-like transcriptional factor;high-mobility group 20B;structural DNA-binding protein BRAF35 APPROVED protein-coding ENSG00000064961 HGNC:5002 05703 605535 VALIDATED 1351848 HMGA1P3 high mobility group AT-hook 1 pseudogene 3 12 12 12 q24.11 110493110 110494905 - 110866403 110868198 - 110428598 110430393 - 11672774;12727900 144712 ABBA01005107;AC005907;AC144548;AMYH02027185;BK000551;NG_002323 HMGA1L3;HMGIYL3 APPROVED pseudo HGNC:13323 INFERRED 1603546 HMGA1P2 high mobility group AT-hook 1 pseudogene 2 4 4 4 q13.3 71320536 71322301 + 73964458 73966223 + 73098741 73100506 + 11672774;12727900;17098703 171559 ABBA01022984;AC105757;AF236857;AMYH02009458;NG_001569 HMGA1L2;HMGIYL2 APPROVED pseudo HGNC:13322 INFERRED 5490911 HMGA1P4 high mobility group AT-hook 1 pseudogene 4 9 9 9 102076224 102097526 - 131425413 131425857 - 128663134 128663578 - 12727900 100506080 ABBA01043892;AL356481;AMYH02021719;NG_031851 pseudo HGNC:39093 INFERRED 1345409 HMGA1 high mobility group AT-hook 1 This gene encodes a non-histone protein involved in many cellular processes, including regulation of inducible gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of A+T-rich regions in double-stranded DNA. It has little secondary structure in solution but assumes distinct conformations when bound to substrates such as DNA or other proteins. The encoded protein is frequently acetylated and is found in the nucleus. At least seven transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21 35758945 35768381 + 34204577 34214008 + 34236800 34246231 + 1580863;6480464;6484113;7240710;8699517;8554872 10074149;10357819;10428834;10428835;10428836;10428837;10713105;10871404;10889043;10891489;11034995;11069991;11076660;11279116;11406267;11498590;11593421;11834421;11978964;12002338;12091904;12097287;12228227;12477932;12653562;12665574;12700639;12761578;13680222;14611647;14702039;14729942;14960313;15213251;15231747;15247513;15302935;15350136;15378028;15479846;15489334;15569996;15591590;15609325;15631895;15835918;15875659;15893306;15901130;15924147;16033759;16075307;16157300;16166307;16189514;16204234;16256199;16291214;16293633;16344560;16403635;16901784;1692833;17005673;17045586;17081983;17178855;17434141;17550233;17616660;17654722;17723105;17877762;17903177;17935122;17960875;18202751;18234858;18279675;18310298;18316571;18391951;18473350;18670638;18817785;18850631;19060921;19074878;19223528;19250063;19266077;19343178;1939057;19396169;19454010;19465398;19609535;19687300;19729480;19738201;19739099;19750561;19759913;19820691;19848064;19893584;19903768;19913121;19956671;20004941;20189936;20194618;20201926;20335021;20347905;20360068;20379614;20397748;20530667;20546612;20628086;20881960;20935630;20975707;21087998;21089648;21138859;21139048;21156240;21282977;21300033;21319273;21329653;21364139;21573994;21656127;21906983;21957495;21984063;21998595;22106824;22113938;22139073;22156211;22199144;22210315;22214847;22221703;22249617;22332738;22379092;22392906;22411136;22503056;22505724;22564666;22745191;22898640;22932725;22939624;22939629;22961697;23000965;23149213;23166588;23201162;23275563;23302499;23311322;23392246;23394223;23398456;23508853;23512162;23530587;23545254;23563607;23658826;23796420;23798998;23835740;23935884;24122990;24148075;24816145;2505228;2701943;2806554;2920035;3619901;7791781;7862168;8414980;9038339;9188609;9253416;9388234;9545312;9751634;9809067;9823775 3159 P17096;Q5T6U8 ABBA01038179;ABBA01038180;AF176039;AK096863;AK130027;AK301434;AK308245;AL354740;AMYH02013509;AMYH02013510;BC004924;BC008832;BC008963;BC015789;BC063434;BC067083;BC071863;BC071864;BT006774;CH471081;DA049639;DA574958;DC338100;DC374225;HI519558;L17131;M23614;M23615;M23616;M23617;M23618;M23619;NG_029020;NM_002131;NM_145899;NM_145901;NM_145902;NM_145903;NM_145905;X14957;X14958;XM_005249061 AAA35998;AAA88072;AAA88073;AAA88074;AAA88075;AAA88076;AAB00145;AAD53889;AAH04924;AAH08832;AAH15789;AAH63434;AAH67083;AAH71863;AAH71864;AAP35420;ABM84023;ABW03568;BAC85280;BAG62962;CAA33080;CAA33081;CBX54360;EAX03762;EAX03763;EAX03764;EAX03765;EAX03766;EAX03767;EAX03768;EAX03769;EAX03770;EAX03771;EAX03772;EAX03773;EAX03774;NP_002122;NP_665906;NP_665908;NP_665909;NP_665910;NP_665912;P17096;XP_005249118 Hs.518805;Hs.703764 2189327;5113465;5123024 G11813;MARC_1047-1048:991929773:1;RH46847 HMG-I(Y);HMG-R;HMGA1A;MGC12816;MGC4242;MGC4854 HMGIY;OTTHUMP00000016222;OTTHUMP00000016223;OTTHUMP00000016224;high mobility group AT-hook protein 1;high mobility group protein A1;high mobility group protein HMG-I/HMG-Y;high mobility group protein R;high-mobility group (nonhistone chromosomal) protein isoforms I and Y;nonhistone chromosomal high-mobility group protein HMG-I/HMG-Y APPROVED protein-coding ENSG00000137309 HGNC:5010 02829 125853;600701 REVIEWED 1345354 HMGA1P5 high mobility group AT-hook 1 pseudogene 5 10 10 10 q22.2 70323165 70324565 - 77034894 77036294 - 75275136 75276536 - 12727900 387063 ABBA01020260;AC010997;AMYH02023364;NG_008009 1335677 D13S172 HMGA1L5 APPROVED pseudo HGNC:19120 INFERRED 6768961 HMGA1P8 high mobility group AT-hook 1 pseudogene 8 (functional) 2 2 2 p13.1 74476411 74476758 - 74643938 74645818 - 74416811 74418691 - 12727900;20975707;9847074 100130009 ABBA01075600;AC005041;AMYH02004090;NG_032791 HMGA1-p APPROVED pseudo HGNC:39183 INFERRED 1344216 HMGA1P6 high mobility group AT-hook 1 pseudogene 6 13 13 13 q12.12 4771442 4771981 + 23708307 23710054 + 23134168 23135915 + 12727900 100130029 ABBA01007868;AL356287;AMYH02027690;NG_027901 HMGA1L6 APPROVED pseudo HGNC:19121 INFERRED 1352361 HMGA1P7 high mobility group AT-hook 1 pseudogene 7 6 6 q23.2 134435100 134438818 - 134113962 134117680 - 12727900;16344560 387065 ABBA01025865;AL449363;AMYH02014523;BF514910;DA252277;DB179218;DB306383;NR_037938 Hs.571061 HMGA1L7 APPROVED pseudo HGNC:19122 VALIDATED 1345595 HMGB1P1 high mobility group box 1 pseudogene 1 This gene may represent an evolving retropseudogene of the high-mobility group box 1 gene, which has multiple pseudogenes. This gene has an intact open reading frame, where the length of encoded protein is conserved, compared to the high-mobility group box 1 protein. However, due to the lack of conclusive evidence for specific transcription at this location, this locus is currently represented as a pseudogene. [provided by RefSeq, Jan 2010] 20 20 20 q13.32 52803392 52804581 - 56062997 56064186 - 57487941 57489130 - 6480464 12477932;20200978;20339536;23251661;23300278;24583282;24816145;9925949 10357 B2RPK0 ABBA01052927;AF076674;AL160176;AMYH02037354;NG_016433 HMG1L1;HMG1L7;HMGB1L1;dJ579F20.1 APPROVED pseudo HGNC:4993 17109 INFERRED 1344648 HMGB1P10 high mobility group box 1 pseudogene 10 22 22 22 q12.1 10760229 10761429 + 26956394 26957582 + 26560428 26561616 + 1580863 10591208;18029348;19505873;21145461;21963094 100130561 ABBA01055201;AMYH02038167;NG_008794;Z95115 HMG1L10;HMGB1L10;bK445C9.3 APPROVED pseudo HGNC:4994 INFERRED 4110492 HMGB1P11 high mobility group box 1 pseudogene 11 1 1 1 144349459 144350084 - 171240102 171240727 - 171270963 171271588 - 12727900 100419996 ABBA01027932;AL031274;AMYH02002134;NG_027013 2138655 SHGC-75897 HMGB1L11 APPROVED pseudo HGNC:13316 INFERRED 1348013 HMGA2 high mobility group AT-hook 2 This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 12 12 12 q15 65883845 66025902 + 66218240 66360071 + 65824460 65966291 + 1601568;1601569;1580863;1601567;1601592;5147841;6480464;8699517;7240710 10742101;11390395;18452175;7606786;8954805 10398424;10586108;10636877;10889043;11034995;11066083;11406267;11839563;11894114;11921278;12419585;12477932;12505264;12569368;12649198;12693954;12778070;12781451;12799440;12874787;13679031;14603445;14614053;14627817;14645522;14647145;15026339;15146197;15225648;15618962;15618963;15755872;15882911;16061642;16077985;16222997;16271958;16276091;16293633;16322327;16341674;16375854;16766265;16831886;16901784;17005673;17045619;17078040;17222355;17322030;17324944;17332316;17426251;17437991;17477356;17624332;1762909;17654722;17767157;17854665;17917958;17917968;17935122;17943974;17957144;18193045;18202751;18214854;18375116;18391950;18391951;18391952;18403645;18413822;18425117;18505920;18784955;18828159;18832382;18843278;18850631;18980243;18983959;19003801;19132395;19136928;19139030;19179606;19215040;19223528;19262251;19266077;19298872;19317492;19343178;19376282;19431195;19454010;19454362;19465398;19508721;19521953;19549901;19551524;19584346;19602040;19609535;19837271;19898227;19913121;19930247;20004941;20007691;20058197;20195514;20228781;20347930;20368557;20397748;20461755;20544840;20551826;20581827;20597139;20610542;20628086;20804914;20804922;20834238;20881960;20889853;20926602;20946527;21150874;21224353;21252160;21267005;21412931;21498692;21533145;21536653;21598109;21692035;21769890;21803798;21906983;21907836;21921580;21931568;21998595;22017592;22019704;22021425;22137485;22139073;22199144;22221703;22246783;22250726;22404713;22461106;22476403;22504417;22504419;22547345;22564666;22593436;22613496;22726539;22843696;22885925;22974476;23111731;23134218;23134771;23135750;23144634;23202124;23237864;23240041;23268403;23276696;23307470;23525579;23529275;23530587;23536553;23563607;23591597;23593123;23625920;23633021;23639551;23704328;23716660;23722545;23738717;23765903;23898062;23969248;23975428;24122990;24144296;24145240;24305048;24468654;24507678;24571540;24935062;7501444;7529547;7670494;8198613;8824803;9003504;9772904;9892177 8091 F5H2A4;F5H2U8;F5H6H0;H0YFY4;P52926 A52568;A80000;AB209853;ABBA01026580;AC090673;AC107308;AF326972;AF533651;AF533652;AF533653;AF533654;AI290477;AK311399;AK311443;AK311447;AMYH02026674;AMYH02026675;AY601861;AY601862;AY601863;AY601864;AY601865;AY601866;AY601867;BM782659;CA422738;CH471054;CN334368;L41044;L46353;NG_016296;NM_001300918;NM_001300919;NM_003483;NM_003484;U28749;U28750;U28754;U29112;U29113;U29115;X92518;XM_005269164;XM_006719620;XR_245958;Z31595 AAA68613;AAA68614;AAA96484;AAI60115;AAN64002;AAO48741;AAO48742;AAU43851;AAU43852;AAU43853;AAU43854;AAU43855;AAU43856;AAU43857;BAD93090;CAA03408;CAA63295;CAA83472;CAB59170;EAW97152;NP_001287847;NP_001287848;NP_003474;NP_003475;P52926;XP_005269221;XP_006719683 Hs.505924 1644607;1647326;1666042;1739843;1739845;1739849;1739851;1739853;1739857;1739859;1757693;1757799;1851313;2153491;2160666;2182364;2217434;5037552;5119292 D12S1509;D12S1511;D12S1521;D12S1523;D12S1549;D12S1550;D12S1552;D12S1555;D12S1556;D12S1557;D12S1561;D12S1562;D8S2279;HMGA2_3902;RH48124;RH69419;SHGC-146271;SHGC-146550;STS-L44578 BABL;HMGI-C;HMGIC;LIPO;STQTL9 High-mobility group protein HMGI-C;OTTHUMP00000239770;OTTHUMP00000239772;OTTHUMP00000239774;OTTHUMP00000239775;OTTHUMP00000239776;OTTHUMP00000239777;OTTHUMP00000239778;high mobility group AT-hook protein 2;high mobility group protein HMGI-C;high-mobility group (nonhistone chromosomal) protein isoform I-C APPROVED protein-coding ENSG00000149948 HGNC:5009 02827 150699;600698 REVIEWED 3207498 HMGB1P12 high mobility group box 1 pseudogene 12 X X X q23 111157250 111157838 + 110677655 110678243 + 111434427 111435015 + 12727900 100129723 ABBA01043300;AL035067;AMYH02040236;NG_022690 HMGB1L12 APPROVED pseudo HGNC:13317 INFERRED 1352474 HMGB1P14 high mobility group box 1 pseudogene 14 14 14 14 q23.1 38801384 38802508 + 58751427 58752551 + 58284709 58285833 + 12727900 319130 ABBA01018256;AL132989;AMYH02029276;NG_002508 HMGB1L14;HMGB1P APPROVED pseudo HGNC:20014 INFERRED 5490928 HMGB1P15 high mobility group box 1 pseudogene 15 X X X p11.22 54717112 54718183 - 50674114 50674548 - 50931114 50931548 - 12727900 644129 ABBA01060056;AL359914;AMYH02039366;NG_030350 pseudo HGNC:39097 INFERRED 4144938 HMGB1P13 high mobility group box 1 pseudogene 13 6 6 6 q23.2 133936509 133937138 - 133189369 133189998 - 132868230 132868859 - 12727900 100129706 ABBA01025875;AL137783;AMYH02014504;NG_022327 HMGB1L13 APPROVED pseudo HGNC:13318 INFERRED 5490927 HMGB1P17 high mobility group box 1 pseudogene 17 6 6 6 136697603 136698206 - 135957248 135957851 - 135636110 135636713 - 12727900 100419974 ABBA01025837;AL035604;AMYH02014551;NG_025876 pseudo HGNC:39099 INFERRED 1605729 HMGB1 high mobility group box 1 ENCODES a protein that exhibits DNA binding, bending; poly(A) RNA binding; repressing transcription factor binding; INVOLVED IN base-excision repair, DNA ligation; inflammatory response to antigenic stimulus; negative regulation of RNA polymerase II transcriptional preinitiation complex assembly; PARTICIPATES IN base excision repair pathway; cisplatin drug pathway; mismatch repair pathway; ASSOCIATED WITH Cerebral Infarction; Mucocutaneous Lymph Node Syndrome; Scleroderma, Systemic; FOUND IN cell surface; condensed chromosome; extracellular space; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one 13 13 13 q12 12102423 12109630 - 31032877 31191942 - 30458740 30465944 - 2306716;6480464;6907045;8548475;8695973;8695977;8696004;8696002;7364865 18157157;18720262;18825489;20046924;23288172;24077211;24599045 10490593;10531386;10617144;10652254;10962007;11099378;11106654;11246022;11279268;11294645;11299752;11470162;11748221;11748232;12062430;12110890;12149489;12231511;12384917;12456506;12477932;12488489;12517784;12534345;12565837;12591939;12604365;12620891;12665595;12727838;12759333;12785009;12799451;12925773;12935895;14517071;14532127;14534709;14702039;14739282;14999020;15005629;15014079;15130941;15146429;15162419;15201494;15210788;15488733;15489334;15496585;15666359;15733057;15743787;15766246;15793304;15802534;15877951;15915542;15924431;15944249;15994314;16040616;16130169;16169070;16267105;16282196;16570276;16697213;16751357;16802368;16807371;16855214;16916647;16951227;16962095;16966386;16968820;16997859;16997939;17035340;17060403;17142771;17203009;17218606;17346334;17403666;17475879;17502242;17504981;17597834;17610420;17617154;17678959;17895302;17918013;17936030;17958791;17975708;17991152;18029348;18073062;18076993;18160415;18239618;18239742;18250463;18277058;18288272;18294942;18317568;18346273;18354232;18425372;18431589;18441281;18569640;18577209;18599803;18631454;18644848;18655026;18670905;18680137;18682735;18692049;18707018;18715162;18759291;18768881;18788635;18799030;18822317;18825712;18846108;18850631;18854154;18949384;18952078;18974890;18984601;18996119;19005067;19009026;19044016;19087540;1909331;19139725;19148477;19150066;19151394;19158276;19197071;19201506;19214652;19223331;19247800;19387923;19398086;19417608;19445369;19446504;19451748;19471022;19476625;19505873;19515846;19530996;19533845;19545550;19564572;19571604;19572890;19616266;19639200;19666121;19679874;19726280;19738201;19751520;19777384;19786934;19800306;19811284;19819342;19837864;19841752;19876719;19887013;19930620;19933377;19948257;19962765;20007974;20044610;20110525;20123074;20123075;20123076;2013279;20185963;20193282;20195357;20200191;20207250;20231695;20302902;20350435;20360068;20414834;20419158;20430742;20510002;20579387;20622903;20659154;20723409;20799933;20812762;20826760;20844833;20846416;20927132;20936104;20959471;20980161;21042739;21044333;21044950;21052685;21092200;21093407;21099216;21116278;21120500;21139048;21146549;21151833;21163940;21181308;21198433;21211520;21241404;21283827;21303685;21319273;21365018;21366949;21380479;21395369;21435605;21442152;21443191;21457762;21457800;21520052;21532866;21548924;21617575;21617715;21642542;21650061;21656024;21691146;21743489;21752923;21788990;21825870;21860212;21864037;21871094;21890473;21900206;21906983;21914366;21915243;21926646;21940680;21944254;21944908;21947243;21953322;21957148;21958433;21963094;21968272;21989210;21990362;22012330;22020142;22025513;22047946;22102692;22105604;22108005;22110531;22127462;22127490;22189477;22189943;22231645;22237993;22248244;22265157;22275109;22293756;22306257;22331597;22333024;22345153;22348591;22361176;22369934;22370717;22379092;22391561;22394598;22473704;22484401;22496788;22505724;22521432;22530772;22544356;22549180;22549347;22552293;22578261;22609241;22623428;22644337;22672360;22696656;22703527;22747650;22750245;22780932;22782142;22842346;22862965;22883976;22884669;22909167;22922889;22928592;22931605;22932142;22939629;22960399;22983919;23000965;23023232;23042506;23055574;23063560;23070967;23118492;23122444;23143556;23157129;23175347;23194089;23204053;23207101;23213216;23228930;23231044;23244202;23255728;23260004;23269659;23269975;23284878;23288170;23317219;23318458;23325855;23328212;23336955;23339448;23359306;23384711;23403315;23403989;23414695;23440398;23447529;23467607;23485600;23549344;23602568;23616573;23628898;23649808;23685846;23691208;23708738;23711070;23723299;23727604;23729200;23836405;23858044;23866030;23883808;23911608;23928875;23938155;23948596;23954397;23964150;23974442;24007972;24012904;24070090;24078503;24082908;24133029;24146279;24152844;24160326;24188108;24200063;24247270;24255708;24257755;24285082;24302768;24302816;24337577;24383926;24412753;24420129;24464016;24524027;24567328;24579204;24609901;24654937;24710933;24752578;24815357;24816145;24846056;24905701;24971542;2922262;3697355;8006019;8339930;8366113;8661151;8890171;9036861;9150946;9166431;9472015;9507007;9600082;9628821;9671457;9722660;9812979;9880542 3146 P09429;Q5T7C4;Q5T7C6 AA430980;AB208998;ABBA01035698;ABBA01035699;AF255609;AF281043;AK057120;AK122825;AK291494;AK304506;AK310975;AL110194;AL353648;AMYH02027796;AMYH02027797;AX795278;AY377859;BC003378;BC030981;BC066889;BC067732;BC141844;BT006940;BT020159;BX647267;CH471075;CR456863;CR749614;D63874;EF157968;EU012027;L13804;L13805;NM_002128;U51677;X12597;XM_005266363;XM_005266365;XM_005266368 AAB08987;AAF71287;AAH03378;AAH30981;AAH66889;AAH67732;AAI40014;AAI40019;AAI41845;AAK64599;AAP35586;AAQ91389;AAV38961;ABM47301;ABS29271;BAA09924;BAD92235;BAF84183;BAG51867;BAG53745;BAH14201;CAA31110;CAE48262;CAG33144;CAH18408;EAX08457;EAX08458;EAX08459;EAX08460;EAX08461;EAX08462;NP_002119;P09429;XP_005266420;XP_005266422;XP_005266425 Hs.434102;Hs.593339;Hs.596078 1645149;1679243;1756101;5117434 GDB:554977;RH91371;SHGC-142889;STS-N92507 DKFZp686A04236;HMG-1;HMG1;HMG3;SBP-1 Amphoterin;OTTHUMP00000018196;OTTHUMP00000018197;OTTHUMP00000018198;OTTHUMP00000018199;OTTHUMP00000190859;OTTHUMP00000190860;OTTHUMP00000200117;Sulfoglucuronyl carbohydrate binding protein;high mobility group protein 1;high mobility group protein B1;high-mobility group (nonhistone chromosomal) protein 1;high-mobility group box 1 APPROVED protein-coding ENSG00000189403 HGNC:4983 01228 163905 VALIDATED 4145220 HMGB1P16 high mobility group box 1 pseudogene 16 X X X p21.1 40356829 40357447 + 36229231 36229849 + 36211114 36211732 + 12727900 646577 ABBA01073548;AL606467;AMYH02039165;NG_022656 APPROVED pseudo HGNC:39098 INFERRED 5490924 HMGB1P19 high mobility group box 1 pseudogene 19 8 8 8 120324370 120324944 + 124135350 124135924 + 123123110 123123684 + 12727900 100419979 ABBA01037866;AC100873;AMYH02018702;NG_026129 pseudo HGNC:39101 INFERRED 4145166 HMGB1P18 high mobility group box 1 pseudogene 18 1 1 1 p31.1 78988138 78988755 + 80749037 80749654 + 80283352 80283969 + 12727900;23251661 646526 ABBA01074368;AC095036;AMYH02001332;NG_022786 1740729;1740757 D1S3228;D1S3244 APPROVED pseudo HGNC:39100 INFERRED 6769423 HMGB1P21 high mobility group box 1 pseudogene 21 5 5 5 73833246 73833849 - 77940065 77940668 - 78644242 78644845 - 12727900 100419947 ABBA01061999;AC010252;AMYH02011633;NG_024603 1722729 G60302 pseudo HGNC:39106 INFERRED 6483724 HMGB1P22 high mobility group box 1 pseudogene 22 5 5 5 q23.2 120556939 120557478 + 124600956 124601495 + 125265263 125265802 + 12727900 644659 ABBA01068913;AC109471;AC114318;AMYH02012126;NG_021896 1696586;1715091;1723721;1726799;2152692 G62789;L28223;RH119497;RH121431;SHGC-78784 pseudo HGNC:39107 INFERRED 6480879 HMGB1P23 high mobility group box 1 pseudogene 23 8 8 29076422 29076989 + 29218905 29219472 + 12727900 100873891 ABBA01005615;AC103830;AMYH02017696;NG_032226 pseudo HGNC:39114 INFERRED 5132780 HMGB1P24 high mobility group box 1 pseudogene 24 17 17 17 32323119 32323755 - 35500579 35501215 - 37143655 37144291 - 12727900 100420063 ABBA01012437;AC016482;AC244093;NG_026178 1656653;1772194;5093206 A009J24;G32583;WI-14928 pseudo HGNC:39115 INFERRED 4145180 HMGB1P26 high mobility group box 1 pseudogene 26 1 1 1 q42.13 203108820 203109472 - 229840958 229841610 - 229705211 229705863 - 12727900 645201 ABBA01009829;AL354983;AMYH02002875;NG_022758 1762047;1780026 SHGC-145960;SHGC-154286 APPROVED pseudo HGNC:39117 INFERRED 4145241 HMGB1P25 high mobility group box 1 pseudogene 25 2 2 2 p25.1 9072951 9073587 - 9158392 9159028 - 9018263 9018899 - 12727900 644651 ABBA01015574;AC112723;AMYH02003244;NG_021494 APPROVED pseudo HGNC:39116 INFERRED 4890233 HMGB1P27 high mobility group box 1 pseudogene 27 2 2 192038959 192039561 + 191174233 191174835 + 12727900 100527948 ABBA01062395;AC079777;AMYH02005443;NG_027985 APPROVED pseudo HGNC:39118 INFERRED 6480889 HMGB1P29 high mobility group box 1 pseudogene 29 5 5 123556272 123556770 - 124220579 124221077 - 12727900 100873892 ABBA01068933;AC022449;AMYH02012111;NG_032227 pseudo HGNC:39120 INFERRED 4145157 HMGB1P28 high mobility group box 1 pseudogene 28 4 4 p13 41843632 41846069 - 41841615 41844052 - 12727900;9847074 100133310 ABBA01014276;ABBA01014277;AC108210;AMYH02009100;NG_029031 APPROVED pseudo HGNC:39119 INFERRED 1349227 HMGB1P3 high mobility group box 1 pseudogene 3 2 2 2 q35 225155949 225157290 + 231379576 231380916 + 230514861 230516201 + 10766566;9925949 10356 ABBA01050126;AC010149;AF076675;AMYH02005953;NG_000883;NG_029842 1794794 PMC56901P1 HMG1L3;HMGB1L3 APPROVED pseudo HGNC:4995 INFERRED 6480891 HMGB1P30 high mobility group box 1 pseudogene 30 3 3 148542569 148543174 - 148824782 148825387 - 12727900 100873893 ABBA01058951;AC024897;AMYH02007878;NG_032228 pseudo HGNC:39121 INFERRED 4145240 HMGB1P20 high mobility group box 1 pseudogene 20 6 6 6 p12.1 54762677 54763299 - 53099789 53101124 - 53234991 53236326 - 12727900 100128227 ABBA01050542;AL512378;AMYH02013747;NG_028948 APPROVED pseudo HGNC:39103 INFERRED 6480882 HMGB1P31 high mobility group box 1 pseudogene 31 2 2 54278471 54278897 + 54051334 54051760 + 12727900 100873894 ABBA01075248;AC008280;AMYH02003839;NG_032229 pseudo HGNC:39122 INFERRED 6480894 HMGB1P33 high mobility group box 1 pseudogene 33 15 15 56615311 56615802 + 56323113 56323604 + 12727900 100873905 ABBA01039006;AC068726;AMYH02030508;NG_032230 pseudo HGNC:39124 INFERRED 5490920 HMGB1P32 high mobility group box 1 pseudogene 32 X X X 98197008 98197615 + 97677133 97677740 + 98422135 98422742 + 12727900 100419995 ABBA01064382;AL357312;AMYH02040034;NG_026863 pseudo HGNC:39123 INFERRED 5490925 HMGB1P35 high mobility group box 1 pseudogene 35 5 5 5 72336635 72337224 + 76442393 76442982 + 77146568 77147157 + 12727900 100419950 ABBA01061979;AC008581;AMYH02011614;NG_024688 2130570 L28304 pseudo HGNC:39175 INFERRED 4889676 HMGB1P36 high mobility group box 1 pseudogene 36 3 3 3 70729930 70730649 + 70803005 70803724 + 70753854 70754573 + 12727900 100419968 ABBA01030923;AC096971;AMYH02007035;NG_025706 APPROVED pseudo HGNC:39176 INFERRED 6480881 HMGB1P38 high mobility group box 1 pseudogene 38 3 3 80006716 80007292 - 79957566 79958142 - 12727900 100873895 ABBA01031035;AC023122;AMYH02007130;NG_032232 pseudo HGNC:39185 INFERRED 4888930 HMGB1P39 high mobility group box 1 pseudogene 39 6 6 6 76422106 76423055 - 76028748 76029696 - 75319032 75319980 - 12727900 100419972 ABBA01040356;AL589649;AMYH02013930;NG_025834 APPROVED pseudo HGNC:39186 INFERRED 4889048 HMGB1P37 high mobility group box 1 pseudogene 37 9 9 9 q33.2 94930625 94931182 - 124282131 124282688 - 121519852 121520409 - 12727900 100132863 ABBA01016228;AL359644;AMYH02021581;NG_021636 APPROVED pseudo HGNC:39184 INFERRED 4890115 HMGB1P34 high mobility group box 1 pseudogene 34 14 14 14 48141277 48141887 + 68082201 68082811 + 67615484 67616094 + 12727900 100420100 ABBA01023707;AL132640;AMYH02029401;NG_027382 APPROVED pseudo HGNC:23342 INFERRED 6480880 HMGB1P41 high mobility group box 1 pseudogene 41 8 8 81724377 81724816 - 80812142 80812581 - 12727900 100873896 ABBA01004058;AC024367;AMYH02018307;NG_032233 pseudo HGNC:39188 INFERRED 6480892 HMGB1P42 high mobility group box 1 pseudogene 42 11 11 120806737 120807361 - 120936028 120936652 - 12727900 100873906 ABBA01031314;AMYH02025682;AP001929;NG_032234 pseudo ENSG00000254735 HGNC:39189 INFERRED 4889052 HMGB1P40 high mobility group box 1 pseudogene 40 11 11 11 p15.1 20728661 20729504 + 20595728 20596909 + 20574182 20575363 + 11181995;12727900 100506595 ABBA01061029;AC090707;AC108005;AMYH02024415;CH471064;NG_027946 EAW68331;EAW68332 high mobility group protein B1-like;high-mobility group box 1 pseudogene 40 APPROVED pseudo HGNC:39187 INFERRED 1346593 HMGB1P4 high mobility group box 1 pseudogene 4 2 2 2 q32 165074819 165075384 - 171456651 171458894 - 170600141 170602384 - 21906983;9847074;9925949 10355 Q75MM1 ABBA01014913;AC007277;AF076676;AMYH02005206;NG_004767;NG_034020 AAF19244 HMG1L4;HMG1L4P;HMGB1L4 APPROVED pseudo HGNC:4996 INFERRED 4888928 HMGB1P43 high mobility group box 1 pseudogene 43 15 15 15 61910188 61910813 - 85483738 85484363 - 84940507 84941132 - 12727900 100420041 ABBA01052950;AC087468;AMYH02030959;NG_025349 APPROVED pseudo HGNC:39191 INFERRED 4889251 HMGB1P44 high mobility group box 1 pseudogene 44 4 4 4 q21.1 76186017 76186607 + 78885094 78885684 + 77963940 77964530 + 12727900 100130279 ABBA01063376;AC114801;AMYH02009530;NG_022063 APPROVED pseudo HGNC:39275 INFERRED 6480883 HMGB1P47 high mobility group box 1 pseudogene 47 5 5 50705451 50706039 - 51409617 51410205 - 12727900 100873897 ABBA01015707;AC010478;AC091860;AMYH02011283;NG_032241 pseudo HGNC:39280 INFERRED 4889265 HMGB1P45 high mobility group box 1 pseudogene 45 1 1 1 p32.3 49150432 49150940 - 50864534 50865042 - 50398862 50399370 - 12727900 100129919 ABBA01074829;AL596275;AMYH02000988;NG_022721 APPROVED pseudo HGNC:39277 INFERRED 4889250 HMGB1P49 high mobility group box 1 pseudogene 49 12 12 12 33000862 33001429 + 27855271 27855839 + 27702338 27702906 + 12727900 100420013 ABBA01068049;AC009509;AMYH02026246;NG_024073 APPROVED pseudo HGNC:39282 INFERRED 4889253 HMGB1P46 high mobility group box 1 pseudogene 46 8 8 8 104372218 104372828 - 108185427 108186037 - 107173199 107173809 - 12727900 100419978 ABBA01037695;AMYH02018581;AP000428;NG_026068 APPROVED pseudo HGNC:39279 INFERRED 4889369 HMGB1P48 high mobility group box 1 pseudogene 48 1 1 1 p34.1 44280577 44281788 + 45996494 45998295 + 45530822 45532623 + 12727900 100128639 ABBA01050865;AL355480;AMYH02000934;NG_028928 FLJ33084 APPROVED pseudo HGNC:39281 INFERRED 1345412 HMGB1P5 high mobility group box 1 pseudogene 5 3 3 3 p24 22359285 22360478 + 22423161 22424357 + 22381670 22382866 + 10591208;8439568;9925949 10354 ABBA01025056;AC121253;AF076677;AMYH02006392;L08048;NG_000897 AAA64970 HMG-1;HMG1L5;HMGB1L15;HMGB1L5;HMGB1P2 APPROVED pseudo HGNC:4997 INFERRED 1353312 HMGB1P6 high mobility group box 1 pseudogene 6 15 15 15 q23 48346862 48348702 - 71456011 71457851 - 71163672 71165512 - 6480464 12727900;9925949 645292 ABBA01038749;AC068181;AF076678;AMYH02030725;NG_006664 HMG1L6;HMGB1L6 APPROVED pseudo HGNC:4998 INFERRED 4888929 HMGB1P7 high mobility group box 1 pseudogene 7 10 10 10 31967207 31967812 + 32202077 32202682 + 31913149 31913754 + 12727900 100420044 ABBA01033395;AL390715;AMYH02022576;NG_025482 APPROVED pseudo HGNC:39096 INFERRED 1605444 HMGB1P8 high mobility group box 1 pseudogene 8 15 15 15 q22 66079589 66081202 - 89678298 89679906 - 89135067 89136675 - 12727900 692147 ABBA01053004;AC013565;AF165167;AMYH02031017;NG_005579 HMG1L8;HMGB1L8 APPROVED pseudo HGNC:13319 INFERRED 1605140 HMGB1P9 high mobility group box 1 pseudogene 9 2 2 2 q35 212831575 212833149 + 219064999 219066573 + 218200276 218201850 + 12727900 654503 ABBA01023877;AC097483;AF165168;AMYH02005784;NG_005481 HMG1L9;HMGB1L9 APPROVED pseudo HGNC:13320 INFERRED 1350742 HMGB3 high mobility group box 3 This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation in this gene was associated with microphthalmia, syndromic 13. There are numerous pseudogenes of this gene on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] X X X q28 150399636 150407102 + 150149056 150159248 + 150980586 150990775 + 1580863;6480464;8699517;8554872;7240710 11076863;12477932;12714519;15358624;15489334;15489336;15772651;16381901;16945912;18850631;19505873;19890330;19956199;21044950;21139048;21145461;21890473;21906983;22241470;22863883;22912879;23000965;23326140;23609034;24098490;24338397;24816145;24993872;9370291;9598312 3149 E7EQU1;E7ES08;E9PES6;O15347 ABBA01037180;ABBA01037181;AF003626;AMYH02040775;AMYH02040776;BC007608;BC010378;BC012370;BC037210;BC070482;BF979310;BX537505;CH471169;DB191695;DN996967;L05085;NG_034209;NM_001301228;NM_001301229;NM_001301231;NM_005342;XM_005274665;XM_005274666;XM_005274667;Y10043 AAC15850;AAH70482;ABZ92037;CAA71143;CAD97768;CAL38124;CAL38659;EAW99397;EAW99398;NP_001288157;NP_001288158;NP_001288160;NP_005333;O15347;XP_005274722;XP_005274723;XP_005274724 Hs.19114 1652260;1659686;1678647;1693528;1754559;2219802;5014329;5022322;5037552;5038356;5106373 D11S2560;D8S2279;ECD09851;HMGB3__6575;REN99877;RH45008;RH98216;SHGC-132841;SHGC-53292;SHGC-58788;STS-Z40721 HMG-2a;HMG-4;HMG2A;HMG4;MCOPS13;MGC90319 OTTHUMP00000025865;OTTHUMP00000025866;OTTHUMP00000025867;OTTHUMP00000025868;high mobility group protein 2a;high mobility group protein 4;high mobility group protein B3;high-mobility group (nonhistone chromosomal) protein 4;high-mobility group box 3;non-histone chromosomal protein APPROVED protein-coding ENSG00000029993 HGNC:5004 02181 300193;300915 REVIEWED 1605728 HMGB2 high mobility group box 2 This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles. These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq, Jul 2008] 4 4 4 q31 171577639 171580708 - 174252527 174255595 - 173331376 173334444 - 6480464 10490593;11099378;11748232;11909973;12062430;12477932;12517784;12524539;12555809;12925773;14729942;14739282;1475204;15005629;15489334;15504738;1551873;15833996;16341674;16344560;17008916;17406091;1754403;17964600;18029348;18239742;18850631;19139395;19223331;19236006;19322201;19369647;19505873;19738201;19811285;19965638;20036050;20851854;21139048;21209461;21319273;21832049;21890473;21890638;21906983;22242598;22345443;22505724;22644337;22863883;22939629;23000965;23143110;23255232;23455922;23828241;24457600;24816145;3697355;7720710;7797075;8226934;8339930;8824816;8889548;9600082;9636147;9671457;9722660;978439 3148 D6R9A6;P26583 AA576809;ABBA01070372;AC097534;AK311864;AMYH02010516;AU129699;BC000903;BC001063;BC100019;BM727941;BM781845;BT019782;BT019783;CH471056;M83665;NM_001130688;NM_001130689;NM_002129;X62534;Z17240 AAA58659;AAH01063;AAI00020;AAV38585;AAV38586;ABM83214;ABM86413;BAG34805;CAA44395;CAA78938;EAX04758;EAX04759;NP_001124160;NP_001124161;NP_002120;P26583 Hs.434953 1659488;1696898;1788726;1792940;2154338;2184006;2218548;5017518 HMGB2;HMGB2_3099;PMC170950P6;RH101915;RH126943;SHGC-12669;SHGC-60210;SHGC-67901 HMG-2;HMG2 OTTHUMP00000219008;OTTHUMP00000219009;OTTHUMP00000219010;OTTHUMP00000219011;high mobility group protein 2;high mobility group protein B2;high-mobility group (nonhistone chromosomal) protein 2;high-mobility group box 2 APPROVED protein-coding HGNC:5000 01229 163906 REVIEWED 4889294 HMGB3P10 high mobility group box 3 pseudogene 10 1 1 1 p21.2 98418645 98419635 + 100163796 100164757 + 99698240 99699201 + 12727900 100129320 ABBA01045449;AC105270;AMYH02001548;NG_028926 APPROVED pseudo HGNC:39302 INFERRED 4770550 HMGB2P1 high mobility group box 2 pseudogene 1 19 19 19 p13.3 1137439 1138050 + 1203208 1203819 + 1203209 1203820 + 729119 ABBA01002629;AC011544;AMYH02035142;NG_007460;NG_021754 APPROVED pseudo HGNC:39174 INFERRED 4889278 HMGB3P11 high mobility group box 3 pseudogene 11 2 2 2 q12.1 99588958 99589522 + 105387741 105388305 + 104771283 104771847 + 12727900 644442 ABBA01073875;AC068057;AMYH02004464;NG_021574 2182228 D2S1321 APPROVED pseudo HGNC:39303 INFERRED 6480886 HMGB3P12 high mobility group box 3 pseudogene 12 3 3 26257813 26258368 + 26216322 26216877 + 12727900 100873898 ABBA01025009;AC139932;AMYH02006428;NG_032245 pseudo HGNC:39304 INFERRED 1354014 HMGB3P1 high mobility group box 3 pseudogene 1 20 20 20 q11.22 30170474 30171361 - 33421378 33422265 - 34833575 34834462 - 6480464 12477932;12727900;21145461 128872 ABBA01019180;AL049709;AMYH02036985;BC103849;BC103850;BC103851;NR_002165 Hs.558624 5037552;5492835 D8S2279;UniSTS:482985 HMG4L;HMGB3L1;MGC118987;MGC118988;MGC118989;dJ18C9.3 APPROVED pseudo HGNC:16240 VALIDATED 6480887 HMGB3P14 high mobility group box 3 pseudogene 14 3 3 133889331 133889929 + 134170487 134171085 + 12727900 100873899 ABBA01059159;AC107310;AMYH02007718;NG_032246;NG_032937 pseudo HGNC:39306 INFERRED 6480884 HMGB3P16 high mobility group box 3 pseudogene 16 5 5 111788400 111788686 - 112452703 112452989 - 12727900 100873900 ABBA01069056;AC129471;AMYH02011975;NG_032247 pseudo HGNC:39308 INFERRED 4889284 HMGB3P13 high mobility group box 3 pseudogene 13 3 3 3 q22.2 132582727 132583312 + 134156448 134157033 + 134437606 134438191 + 12727900 100289158 ABBA01059155;AC010207;AMYH02007721;NG_022274 APPROVED pseudo HGNC:39305 INFERRED 4889256 HMGB3P17 high mobility group box 3 pseudogene 17 5 5 5 118759802 118760433 - 122804492 122805123 - 123468798 123469429 - 12727900 100419948 ABBA01068940;AC106792;AMYH02012101;NG_024626 APPROVED pseudo HGNC:39309 INFERRED 4889277 HMGB3P15 high mobility group box 3 pseudogene 15 4 4 4 q22.3 92413754 92414327 - 95117091 95117664 - 94195940 94196513 - 12727900 644429 ABBA01063619;AC096746;AMYH02009756;NG_022021 APPROVED pseudo HGNC:39307 INFERRED 1348853 HMGB3P2 high mobility group box 3 pseudogene 2 20 20 20 q11.23 31412708 31413288 - 34663943 34664523 - 36076021 36076601 - 12727900 128879 ABBA01019130;AL035420;AMYH02037014;NG_000979 HMG4L2;HMGB3L2;dJ550H1.1 APPROVED pseudo HGNC:16574 INFERRED 4889224 HMGB3P19 high mobility group box 3 pseudogene 19 6 6 6 q25.2 154994047 154994597 - 154259595 154260145 - 153938460 153939010 - 12727900 729635 ABBA01025602;AL136094;AMYH02014758;NG_022333 2134839 333TE5 APPROVED pseudo HGNC:39311 INFERRED 6480890 HMGB3P21 high mobility group box 3 pseudogene 21 7 7 96764327 96764873 - 97135015 97135561 - 12727900 100873901 ABBA01045754;AC073421;AMYH02016315;NG_032248 pseudo HGNC:39313 INFERRED 4889266 HMGB3P18 high mobility group box 3 pseudogene 18 6 6 6 q22.31 122923947 122924533 - 122179328 122179914 - 121858182 121858768 - 12727900;23183192 644502 ABBA01025986;AMYH02014405;NG_022325;Z93931 APPROVED pseudo HGNC:39310 INFERRED 4889225 HMGB3P22 high mobility group box 3 pseudogene 22 5 5 5 q35.3 174746298 174746843 + 179121179 179121816 + 179694178 179694815 + 12727900 729595 ABBA01010032;AC113426;AMYH02012886;NG_028953 1656257 STS-H08168 high mobility group protein B3-like;high-mobility group box 3 pseudogene 22 APPROVED pseudo HGNC:39314 INFERRED 4889362 HMGB3P23 high mobility group box 3 pseudogene 23 9 9 9 p21.1 31574013 31574948 - 31643343 31645182 - 31643345 31645184 - 12727900 100288563 ABBA01065091;AL353728;AMYH02019402;NG_028956 APPROVED pseudo HGNC:39315 INFERRED 4889379 HMGB3P24 high mobility group box 3 pseudogene 24 9 9 9 p13.2 36237100 36238527 - 36302685 36305013 - 36302688 36305016 - 12727900 646993 ABBA01050430;AL161792;AMYH02019475;NG_029027 1738245 D9S1209 high mobility group protein B3-like;high-mobility group box 3 pseudogene 24 APPROVED pseudo HGNC:39316 INFERRED 6480893 HMGB3P25 high mobility group box 3 pseudogene 25 11 11 87191803 87192355 - 87480761 87481313 - 12727900 100873908 ABBA01017308;AMYH02025252;AP003497;NG_032249 pseudo HGNC:39317 INFERRED 4889282 HMGB3P20 high mobility group box 3 pseudogene 20 7 7 7 p15.2 27011343 27011906 - 27022423 27022986 - 26982804 26983367 - 12727900 442661 ABBA01056754;AC073472;AMYH02015407;CH236948;NG_022531 1799652;1810772;1811002;1812382;1814692;1815090;1816758;1825356;1826690;1836142;1837088;1837658;1844458;1846514;2057420;2057422;2057424;2057426;2057428;2057430;2057432;2057434;2057436;2057438;2057440;2057442;2057444;2057446;2057448;2057450;2057452;2057454;2057456;2057458;2057460;2057462;2057464;2057466;2057468;2057470;2057472;2057474;2057476;2057478;2057480;2057482;2057484;2057486;2057488;2057490;2057492;2057494;2057496;2057498;2057500;2057502;2057504;2057506;2057508;2057510;2057512;2057514;2057516;2057518;2057520;2057522;2057524;2057526;2057528;2057530;2057532;2057534;2057536;2057538;2057540;2057542;2115849;2191976;2191978;2191980;2191982;2191984;2191986;2191988;2191990;2191992;2191994;2191996 D7S1457;ECD00680;ECD06384;ECD06499;ECD07198;ECD08377;ECD08578;ECD09424;ECD13784;ECD14459;ECD19232;ECD19709;ECD19996;ECD23443;ECD24478;REN99878;REN99879;REN99880;REN99881;REN99882;REN99883;REN99884;REN99885;REN99886;REN99887;REN99888;REN99889;REN99890;REN99891;REN99892;REN99893;REN99894;REN99895;REN99896;REN99897;REN99898;REN99899;REN99900;REN99901;REN99902;REN99903;REN99904;REN99905;REN99906;REN99907;REN99908;REN99909;REN99910;REN99911;REN99912;REN99913;REN99914;REN99915;REN99916;REN99917;REN99918;REN99919;REN99920;REN99921;REN99922;REN99923;REN99924;REN99925;REN99926;REN99927;REN99928;REN99929;REN99930;REN99931;REN99932;REN99933;REN99934;REN99935;REN99936;REN99937;REN99938;REN99939;stSG609237;stSG609238;stSG609239;stSG609240;stSG609241;stSG609242;stSG609243;stSG609244;stSG609245;stSG609246;stSG609248 APPROVED pseudo HGNC:39312 INFERRED 4889366 HMGB3P27 high mobility group box 3 pseudogene 27 17 17 17 q21.2 37455660 37456283 + 40794304 40800819 + 42642286 42648801 + 12727900;16625196;24583282 441795 ABBA01006415;AC067852;AMYH02033432;AMYH02033433;NG_028178 Putative high mobility group protein B3-like protein;high mobility group protein B3-like protein-like;high-mobility group box 3 pseudogene 27 APPROVED pseudo HGNC:39319 INFERRED 4889673 HMGB3P29 high mobility group box 3 pseudogene 29 19 19 19 17429579 17430836 - 17527840 17529097 - 17417031 17418288 - 12727900 100420015 ABBA01051200;AC010319;AMYH02035704;NG_024158 APPROVED pseudo HGNC:39321 INFERRED 4889247 HMGB3P26 high mobility group box 3 pseudogene 26 14 14 14 q32.32 83884791 83885345 - 103830603 103831157 - 103364266 103364820 - 12727900 100130405 ABBA01048430;AL133367;AMYH02029922;NG_022849 APPROVED pseudo HGNC:39318 INFERRED 5490926 HMGB3P3 high mobility group box 3 pseudogene 3 5 5 5 6315951 6316757 + 6289920 6290726 + 6289807 6290613 + 12727900 100419949 ABBA01016143;AC091988;AMYH02010803;NG_024651 pseudo HGNC:39102 INFERRED 4889223 HMGB3P28 high mobility group box 3 pseudogene 28 18 18 18 p11.21 12331322 12331881 + 12450446 12451005 + 12450447 12451006 + 12727900 100131036 ABBA01074020;AMYH02034332;AP001029;NG_022487 1684379;1734574;2118161 D18S895E;D18S935E;RH8155 APPROVED pseudo HGNC:39320 INFERRED 4889698 HMGB3P32 high mobility group box 3 pseudogene 32 16 16 57637010 57639448 + 57603098 57605536 + 12727900 100507549 ABBA01025276;ABBA01025277;AC018552;AMYH02032110;NG_028971 APPROVED pseudo HGNC:39335 INFERRED 6480888 HMGB3P4 high mobility group box 3 pseudogene 4 13 13 100024427 100024940 + 99372173 99372686 + 12727900 100873890 ABBA01027122;AL136961;AMYH02028589;NG_032225 pseudo HGNC:39104 INFERRED 4146228 HMGB3P5 high mobility group box 3 pseudogene 5 10 10 10 q25.2 105942014 105942589 + 112210387 112210962 + 110450629 110451204 + 12727900 645360 ABBA01063030;AL355512;AMYH02023796;NG_022191 APPROVED pseudo HGNC:39105 INFERRED 4889693 HMGB3P31 high mobility group box 3 pseudogene 31 X X X q26.3 134482540 134483102 - 134095776 134096338 - 134961746 134962308 - 12727900 392545 ABBA01042511;AMYH02040537;NG_022638;Z83826 1702306 DXS902 APPROVED pseudo HGNC:39334 INFERRED 4889695 HMGB3P30 high mobility group box 3 pseudogene 30 X X X q23 112418383 112419135 + 111933120 111933872 + 112689892 112690644 + 12727900 203510 ABBA01043143;AL034450;AMYH02040246;CH471120;NG_022892 EAX02628 1852205 AL008892 APPROVED pseudo HGNC:39333 INFERRED 4889218 HMGB3P6 high mobility group box 3 pseudogene 6 1 1 1 q23.3 137431212 137431812 + 164326004 164326604 + 164356767 164357367 + 12727900 729952 ABBA01047290;AL357512;AMYH02002056;NG_022815 APPROVED pseudo HGNC:39283 INFERRED 4889390 HMGB3P8 high mobility group box 3 pseudogene 8 10 10 q25.3 118198717 118199579 - 116439205 116440067 - 12727900 100506039 ABBA01062959;AC011328;AMYH02023869;NG_028968 APPROVED pseudo HGNC:39300 INFERRED 6480885 HMGB3P9 high mobility group box 3 pseudogene 9 1 1 93112605 93113187 - 92647048 92647630 - 12727900 100873879 ABBA01045538;AC104332;AMYH02001487;NG_032244 pseudo HGNC:39301 INFERRED 1606732 HMGB4 high mobility group box 4 ENCODES a protein that exhibits DNA binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH furan (ortholog) 1 1 1 p35.1 32597828 32602145 + 34326076 34330392 + 33860475 33864791 + 6480464;8554872 12477932;14702039;15197164;15489334;17207965;20970119;21832049 127540 Q6NSH1;Q8WW32 ABBA01023373;AK097707;AK130859;AK310465;AK311985;AL121980;AMYH02000737;BC021180;BC070148;BI827031;BX099695;CF272581;CH471059;DQ207367;HC007024;HC044801;KF495903;NM_145205;NR_033264 AAH21180;AAH70148;ABB22048;ADQ31710;BAG34924;CBH19317;CBH30730;EAX07453;NP_660206;Q8WW32 Hs.568628;Hs.667683 1681103;1733044;2190801 D1S1397;LOC127540;RH98973 FLJ40388;MGC88128;dJ1007G16.5 HMG2 like;OTTHUMP00000225047;high mobility group protein B4;high-mobility group box 4 APPROVED protein-coding ENSG00000176256 HGNC:24954 14038 VALIDATED 4889252 HMGB3P7 high mobility group box 3 pseudogene 7 13 13 13 83297009 83297540 + 102454228 102454759 + 101801878 101802409 + 12727900 100420033 ABBA01027080;AL160153;AMYH02028621;NG_024948 APPROVED pseudo HGNC:39299 INFERRED 1352812 HMGCLL1 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 ENCODES a protein that exhibits hydroxymethylglutaryl-CoA lyase activity; metal ion binding (ortholog); INVOLVED IN ketone body biosynthetic process; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol; endoplasmic reticulum; membrane; INTERACTS WITH (+)-catechin; trichostatin A; valproic acid 6 6 6 p12.1 56960691 57105227 - 55299171 55444012 - 55434373 55579214 - 1580863;6480464;8554872 12477932;14702039;16344560;17207965;20379614;22847177;22865860;23251661;8440722;8619474;9110174 54511 B7Z212;B7Z4D4;D6RHJ2;G5E9S9;O95896;Q8TB92;Q9NT06 ABBA01050506;ABBA01050507;AF131827;AK055075;AK127587;AK293856;AK294210;AK297191;AL137605;AL590290;AL590406;AMYH02013769;AMYH02013770;BC024194;CH471081;DA508472;DB179645;NM_001042406;NM_001287741;NM_001287746;NM_001287753;NM_019036;NR_109867;NR_109869 AAD20054;AAH24194;ADQ31715;BAC87045;BAG51462;BAH11613;BAH11698;BAH12520;CAB70838;EAX04442;EAX04443;EAX04444;EAX04445;NP_001035865;NP_001274670;NP_001274675;NP_001274682;NP_061909;Q8TB92 Hs.147054 1679573;1681891;1682429;1753597;1755953;1761811;2182140;2219804 G17068;HMGCLL1__6577;RH66327;RH75610;RH93241;SHGC-107537;SHGC-142775;SHGC-145767 DKFZp434G1411;bA418P12.1;er-cHL 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic;3-hydroxymethyl-3-methylglutaryl-CoA lyase-like protein 1;3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1;OTTHUMP00000016647;OTTHUMP00000016648;OTTHUMP00000218062;OTTHUMP00000218063;OTTHUMP00000218065;endoplasmic reticulum 3-hydroxymethyl-3-methylglutaryl-CoA lyase;probable 3-hydroxymethyl-3-methylglutaryl-CoA lyase 2 APPROVED protein-coding ENSG00000146151 HGNC:21359 13663 VALIDATED 733716 HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 1 1 1 p36.1-p35 22457935 22481518 - 24128367 24165110 - 23801877 23825459 - 1599500;1300048;1580863;2326171;2326093;2326182;6480464;6907045;7240710;8554872;8699517 15877199;17692550;5667251;8440722 11129331;11952809;12464283;12477932;14702039;15122894;15164951;15489334;15752612;15764642;16169070;16330550;16344560;17173698;17459752;19036343;19177531;19932602;20178365;20301313;20558737;20877624;2116546;21514269;21900206;21952825;21988832;22865860;23465862;24333427;7527399;8027038;8102917;8617516;8670134;8798725;8889548;8978493;9200711;9463337;9869651 3155 B1AK13;D6REN8;H0Y2L7;P35914 ABBA01059886;AI202943;AK122801;AK300733;AK309129;AK313869;AL031295;AL590728;AMYH02000509;AMYH02000510;AMYH02000511;BC010570;BC021145;BM981610;BT009792;CA306929;CH471134;CR456884;DA425822;FJ472654;GU433941;L07033;NG_013061;NM_000191;NM_001166059 AAA92733;AAH10570;AAP88794;ABM83009;ABM86202;ACK58684;ADD21697;BAG36597;BAG53736;BAG62406;CAG33165;EAW95094;EAW95095;EAW95096;EAW95097;NP_000182;NP_001159531;P35914 Hs.533444 1692220;1744653;1745763;1852627;2138850;2158632;2219806 AL033765;D1S3295;GDB:549168;GDB:636092;HMGCL__6576;RH68992;SHGC-12784 HL 3-hydroxy-3-methylglutarate-CoA lyase;3-hydroxy-3-methylglutaryl coa lyase;3-hydroxy-3-methylglutaryl-CoA lyase;3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase;3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria);HMG-CoA lyase;OTTHUMP00000003004;OTTHUMP00000003005;OTTHUMP00000223529;OTTHUMP00000223530;hydroxymethylglutaricaciduria;hydroxymethylglutaryl-CoA lyase, mitochondrial;mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase APPROVED protein-coding ENSG00000117305 HGNC:5005 02003 246450;613898 REVIEWED 737571 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 1 p13-p12 118521355 118542283 - 120290619 120311555 - 119747996 119768932 - 1580863;2326126;2326133;2326135;2326121;2326134;6480464;6907045;7240710;8554872 10892723;12399220;14769484;7902069;9893938 11228257;11479731;12477932;12647205;15489334;16940161;17387528;18636124;18660489;19913121;20346956;20549515;20618440;20628086;20877624;21502324;21832049;21890473;21906983;21952825;22505724;23943793;6986618;7851882;7893153;9305755 3158 P54868 ABBA01068518;AI215948;AK301594;AK302276;AK303777;AK313590;AL589734;AMYH02001819;BC044217;BF964973;BP420631;BX104280;CH471122;CR456850;GU433940;NG_013348;NM_001166107;NM_005518;U12788;U12789;U81859;X83618 AAA92673;AAA92674;AAB72036;AAH44217;ADD21696;BAH13520;BAH13664;BAH14049;CAA58593;CAG33131;EAW56709;EAW56710;NP_001159579;NP_005509;P54868 Hs.59889 1690584;2151050 D1S3445;RH11689 3-hydroxy-3-methylglutaryl coenzyme A synthase;3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial);HMG-CoA synthase;OTTHUMP00000013928;OTTHUMP00000243996;hydroxymethylglutaryl-CoA synthase, mitochondrial;mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase APPROVED protein-coding ENSG00000134240 HGNC:5008 02580 600234;605911 REVIEWED 1317138 HMGN1 high mobility group nucleosome binding domain 1 The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011] 21 21 21 q22.2 25911870 25918680 - 40714241 40721047 - 39342315 39349121 - 1580863;6480464;7246919 22824526 10469656;10739259;10753971;10830953;11025449;11438671;12215538;12477932;12773393;14702039;15147216;15302935;15489334;16061652;16253989;16729963;16780588;16916636;17938209;18287527;19524541;20211142;20541997;21044950;21173166;2140193;21906983;21907836;21988832;22009741;22184635;22393258;22779921;22939629;22990118;23080069;24250222;24816145;2563381;3782107;4022776;7563062;8047885;8514795;8534374;9852141 3150 A6NEL0;A6NL93;F2Z2W6;F2Z2Y5;H7BXJ5;P05114;Q6NSG7 AB209245;ABBA01009343;AF064861;AK056033;AK130775;AK315410;AL163279;AL582106;AMYH02037829;BC000075;BC023984;BC070153;BC070154;BC071643;BC072672;BC106080;BC107741;BE779939;BT007337;CH471079;J02621;M21339;NM_004965 AAA52676;AAA52677;AAH00075;AAH23984;AAH70153;AAH70154;AAH71643;AAH72672;AAI06081;AAI07742;AAP36001;ABM82667;ABM85845;BAB71078;BAD92482;CAB90453;EAX09650;EAX09651;EAX09652;EAX09653;EAX09654;EAX09655;EAX09656;NP_004956;P05114 Hs.356285 1729774;1741277;1741751;1741753;1741777;1807046;1808196;1817432;1824834;1830506;1832928;1833776;1835158;1845984;1858592;1898802;1898804;1898806;1898808;1898810;1898812;1898814;1898816;1898818;1898820;1898822;1898824;1898826;1898828;1898830;1898832;1898834;1898836;1898838;1898840;1898842;1898844;1898846;1898848;1898850;1898852;1898854;1898856;1898858;1898860;1898862;1898864;1898866;1898868;1898870;2203136;2203138;2203140;2203142;5014404;5015947;5019849;5024593;5024758;5038374;5038460 D21S220;ECD04488;ECD05079;ECD09766;ECD10572;ECD13516;ECD16388;ECD17402;ECD17605;ECD18033;ECD18713;ECD18734;ECD22897;ECD24212;ECD24497;G34952;GDB:180305;GDB:184394;GDB:184395;GDB:185163;REN20197;REN20198;REN20199;REN20200;REN20201;REN20202;REN20203;REN20204;REN20205;REN20206;REN20207;REN20208;REN20209;REN20210;REN20211;REN20212;REN20213;REN20214;REN20215;REN20216;REN20217;REN20218;REN20219;REN20220;REN20221;REN20222;REN20223;REN20224;REN20225;REN20226;REN20227;REN20228;REN20229;REN20230;REN20231;RH67009;RH80697;stSG622717;stSG622718;stSG622719;stSG622722 FLJ27265;FLJ31471;HMG14;MGC104230;MGC117425 OTTHUMP00000068966;OTTHUMP00000069043;OTTHUMP00000109173;high mobility group nucleosome-binding domain-containing protein 1;high-mobility group (nonhistone chromosomal) protein 14;high-mobility group nucleosome binding 1;high-mobility group nucleosome binding domain 1;non-histone chromosomal protein HMG-14;nonhistone chromosomal protein HMG-14 APPROVED protein-coding ENSG00000205581 HGNC:4984 01231 163920 REVIEWED 735555 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) ENCODES a protein that exhibits drug binding (inferred); hydroxymethylglutaryl-CoA synthase activity (inferred); isomerase activity (inferred); INVOLVED IN brain development (inferred); cellular lipid metabolic process (inferred); cellular response to cholesterol (inferred); PARTICIPATES IN forkhead class A signaling pathway; ketone bodies biosynthetic pathway; butanoate metabolic pathway; ASSOCIATED WITH Diabetes Mellitus, Experimental (ortholog); Obesity (ortholog); Spinal Cord Compression (ortholog); FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile; 17beta-estradiol 5 5 5 p14-p13 43180430 43204721 - 43287572 43313614 - 43287470 43313512 - 1300048;1580863;2302233;2316857;2326155;2326093;2326108;2326134;6480464;6484113;6907045 15877199;1685984;16876788;18452227;9893938 12477932;1358203;14702039;15489334;16344560;17081983;18029348;18636124;18660489;18854154;19088433;1971108;20346956;21139048;21890473;21906983;21963094;22053931;22505724;22939629;23000965;23464991;24816145;2870496;2877984;3470763;7913309 3157 D6RIW1;Q01581;Q5XJ04 ABBA01024256;AC114947;AK095492;AK315593;AL050004;AMYH02011241;BC000297;BC082234;BC083514;BT007302;CH471119;DB074885;DB078662;L25798;M15802;NM_001098272;NM_002130;X66435;XM_005248295 AAA62411;AAH00297;AAH83514;AAP35966;BAC04559;BAG37965;CAA47061;EAW56054;EAW56055;EAW56056;NP_001091742;NP_002121;Q01581;XP_005248352 Hs.397729;Hs.741287 1676274;1676662;1679972;1683932;1690576;1690862;1698732;1720813;1754761;1794308;1794604;5022777;5120067;5124585 G59382;GDB:194504;HMGCS1;PMC311006P3;PMC327197P1;RH102927;RH76109;RH80450;RH80686;RH93594;RH98561;RH98809;RH99205;SHGC-33119 HMGCS;MGC90332 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase;3-hydroxy-3-methylglutaryl coenzyme A synthase;3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble);3-hydroxy-3-methylglutaryl-coenzyme a synthase 1;HMG-CoA synthase;OTTHUMP00000221637;OTTHUMP00000221638;hydroxymethylglutaryl-CoA synthase, cytoplasmic APPROVED protein-coding ENSG00000112972 HGNC:5007 07515 142940 VALIDATED 1353111 HMGN1P1 high mobility group nucleosome binding domain 1 pseudogene 1 14 14 14 q22.3 35910425 35911437 - 55861033 55862045 - 55394315 55395327 - 12727900 319131 ABBA01018207;AL356801;AMYH02029237;NG_002509 HMGN1L1 APPROVED pseudo HGNC:20015 INFERRED 6480913 HMGN1P10 high mobility group nucleosome binding domain 1 pseudogene 10 3 3 136327892 136328444 + 136609050 136609602 + 100874438 ABBA01059118;AC128712;AMYH02007745;NG_032261 pseudo HGNC:39353 INFERRED 6480897 HMGN1P13 high mobility group nucleosome binding domain 1 pseudogene 13 5 5 110907799 110907936 - 111572102 111572239 - 12727900 100874439 ABBA01069069;AC008967;AMYH02011971;NG_032262 pseudo HGNC:39357 INFERRED 6480910 HMGN1P14 high mobility group nucleosome binding domain 1 pseudogene 14 5 5 111181747 111182263 - 111846050 111846566 - 100874440 ABBA01069065;AC114297;AMYH02011972;NG_032263 pseudo HGNC:39358 INFERRED 731579 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 5 5 5 q13.3-q14 70526169 70551102 + 74632159 74657926 + 75337168 75362101 + 1580863;2313760;2313759;2313755;2313753;2316857;4892116;5508445;5508455;5508458;5508459;5508471;5508686;2315888;5508474;5508462;5508466;5508468;5508469;5508470;5508475;5508480;2292672;2316848;5508701;5508448;5508450;5508460;5508465;5508472;5508473;5508476;5508477;5508478;5508683;5508690;5508692;5508696;6480464;6907045;7240710;8554872 11565076;12742282;12750068;14691063;15111316;15312879;15476492;15699169;15809366;16009498;1611649;16140414;16316970;16557230;16876788;16922808;17085013;17119970;17250646;17286627;17303181;17640385;17702587;17724290;17870053;18184918;18333374;18398369;18562561;18563955;19461650;19578821;19913842;20084838;21119529;21360500;21724106 10391209;10449533;10695663;10698924;11349148;11716764;11894121;12213890;12477733;12477932;12535518;12778445;12803139;12860252;12871602;14556080;14563840;14684825;14697242;15090540;15146197;15199031;15233402;15473258;15489334;15811249;16014965;16054061;16168377;16196087;16515720;16831864;16930778;17180682;17284348;17502376;1755834;17652086;17681147;17855807;18024962;18056971;18193044;18261733;18332269;18354102;18459144;18559695;18622260;18660489;18676680;18787507;18802019;18815589;18996102;19053857;19060906;19060911;19067673;19088433;19148283;19170196;19197348;19327767;19336370;19446537;19458199;19460711;19554360;19558216;19625176;19667110;19692168;19773416;1979742;19887822;19906111;19913121;19923996;19948975;20031551;20031582;20031591;20145341;20167577;20235787;20388088;20403997;20409966;20413733;20450896;20458442;20540816;20571754;20578904;20602615;20628086;20679960;20686565;20691829;20864672;20935630;20972250;21139048;21145461;21262914;21343306;21355415;21427285;21433257;21530605;21778231;21799150;21801748;21890473;21906983;21909109;21944868;21963094;21987572;22024489;22053931;22143767;22177940;22505724;22858685;23000965;23223569;23549978;23642566;2369897;23933271;23994498;24001602;24025715;24097068;24233489;24371122;24386095;24390662;24449766;24816145;2991281;2998972;3308873;3860301;3866240;3896758;6479432;6491541;8028508;8406993;9853754 3156 C9JKX7;D6RIW0;H0Y8F6;H0Y8K6;P04035 AA648735;ABBA01061944;AC008897;AF273765;AK292892;AK296499;AK299655;AK312437;AMYH02011585;AY321356;AY429541;AY429542;AY429543;BC024180;BC033692;CH471084;CN278665;HB386655;M11058;M62627;M62633;NG_011449;NM_000859;NM_001130996 AAA52679;AAG21343;AAH33692;AAP72015;ABM81781;ABM84935;BAF85581;BAG35346;BAG61573;BAH12375;CAZ64465;EAW95754;EAW95755;EAW95756;NP_000850;NP_001124468;P04035 Hs.628096;Hs.643495 1741567;1767589;2134039;2181780;2190577;5119663 D5S2478;D5S2670;EST7D6;GDB:177804;GDB:181537;RH47294 LDLCQ3 3-hydroxy-3-methylglutaryl CoA reductase (NADPH);3-hydroxy-3-methylglutaryl-Coenzyme A reductase;HMG-CoA reductase;OTTHUMP00000128250;OTTHUMP00000222062;OTTHUMP00000222063;hydroxymethylglutaryl-CoA reductase APPROVED protein-coding ENSG00000113161 HGNC:5006 00836 142910 REVIEWED 4889694 HMGN1P11 high mobility group nucleosome binding domain 1 pseudogene 11 4 4 4 q13.1 60834314 60834616 + 63376075 63377287 + 62510357 62511569 + 12727900;9847074 644534 ABBA01022841;AC093891;AMYH02009330;NG_028944 APPROVED pseudo HGNC:39355 INFERRED 6769770 HMGN1P17 high mobility group nucleosome binding domain 1 pseudogene 17 5 5 55677608 55677902 + 56381781 56382075 + 12727900 100874443 ABBA01015762;AC034245;AMYH02011328;NG_032266 pseudo HGNC:39361 INFERRED 6769791 HMGN1P15 high mobility group nucleosome binding domain 1 pseudogene 15 5 5 114624733 114625027 - 115289036 115289330 - 12727900 100874441 ABBA01069034;AC008494;AMYH02012000;NG_032264 pseudo HGNC:39359 INFERRED 6769790 HMGN1P16 high mobility group nucleosome binding domain 1 pseudogene 16 5 5 147600923 147601205 - 148221360 148221642 - 12727900 100874442 ABBA01026318;AC011346;AMYH02012432;NG_032265 pseudo HGNC:39360 INFERRED 6769789 HMGN1P18 high mobility group nucleosome binding domain 1 pseudogene 18 7 7 120690981 120691257 + 121050927 121051203 + 12727900 100874444 ABBA01057764;AC006976;AMYH02016663;NG_032267 pseudo HGNC:39362 INFERRED 6769793 HMGN1P19 high mobility group nucleosome binding domain 1 pseudogene 19 7 7 46674212 46674544 + 46634614 46634946 + 12727900 100874445 ABBA01058262;AC011294;AMYH02015646;NG_032268 pseudo HGNC:39363 INFERRED 1353988 HMGN1P2 high mobility group nucleosome binding domain 1 pseudogene 2 21 21 21 q22.11 18262238 18262813 + 33078921 33079496 + 31706608 31707183 + 10830953;12727900 54048 ABBA01057294;AMYH02037717;AP000255;NG_000921 HMG14P;HMGN1L2 APPROVED pseudo HGNC:4985 INFERRED 6769796 HMGN1P20 high mobility group nucleosome binding domain 1 pseudogene 20 10 10 19778030 19778329 + 19489101 19489400 + 12727900 100874459 ABBA01034518;AL354695;AMYH02022396;NG_032269 pseudo HGNC:39364 INFERRED 6769799 HMGN1P22 high mobility group nucleosome binding domain 1 pseudogene 22 11 11 11203355 11203835 - 11181808 11182288 - 12727900 100874460 ABBA01061150;AC111188;AMYH02024332;NG_032270 pseudo HGNC:39366 INFERRED 6769797 HMGN1P23 high mobility group nucleosome binding domain 1 pseudogene 23 12 12 14344949 14345222 + 14192015 14192288 + 12727900 100874461 ABBA01067868;AC135001;AMYH02026085;NG_032271 pseudo HGNC:39367 INFERRED 6480926 HMGN1P24 high mobility group nucleosome binding domain 1 pseudogene 24 13 13 96461564 96461861 - 95809310 95809607 - 100874462 ABBA01027176;AL136104;AMYH02028526;NG_032272 pseudo HGNC:39368 INFERRED 4889696 HMGN1P21 high mobility group nucleosome binding domain 1 pseudogene 21 11 11 11 p15.4 4014679 4015928 - 4009584 4010833 - 3988354 3989603 - 12727900 728325 ABBA01032043;AC087441;AMYH02024234;NG_005987 2039584 REN90816 APPROVED pseudo HGNC:39365 INFERRED 6769798 HMGN1P27 high mobility group nucleosome binding domain 1 pseudogene 27 15 15 77497265 77497757 + 77204923 77205415 + 12727900 100874463 ABBA01060563;AC087465;AMYH02030850;NG_032273;NG_034037 pseudo HGNC:39371 INFERRED 6769768 HMGN1P28 high mobility group nucleosome binding domain 1 pseudogene 28 17 17 58928743 58929106 + 60851382 60851745 + 12727900 100874464 ABBA01035394;AC079005;AMYH02033730;NG_032274 pseudo HGNC:39372 INFERRED 4889771 HMGN1P26 high mobility group nucleosome binding domain 1 pseudogene 26 15 15 15 q22.2 39534006 39534310 - 62653425 62654701 - 62361226 62362502 - 12727900 100128015 ABBA01038926;AC032011;AMYH02030574;NG_028963 APPROVED pseudo ENSG00000259557 HGNC:39370 INFERRED 4889720 HMGN1P25 high mobility group nucleosome binding domain 1 pseudogene 25 14 14 14 q32 81001580 81001885 + 100947218 100948415 + 100480881 100482078 + 100507124 ABBA01048527;AL845552;AMYH02029856;NG_028962 1674818;1774611;5093884 A009Y18;G32980;SHGC-34616 high-mobility group nucleosome binding domain 1 pseudogene 25;non-histone chromosomal protein HMG-14-like APPROVED pseudo HGNC:39369 INFERRED 4889364 HMGN1P3 high mobility group nucleosome binding domain 1 pseudogene 3 14 14 14 q24.1 49414575 49415715 - 69353699 69354900 - 68886982 68888183 - 12727900 100036574 ABBA01023683;AL117694;AMYH02029427;NG_005988;NG_029480 APPROVED pseudo HGNC:23343 INFERRED 6483492 HMGN1P29 high mobility group nucleosome binding domain 1 pseudogene 29 17 17 41296973 41297272 + 43144956 43145255 + 12727900 100885865 ABBA01006390;AC135721;AMYH02033451;NG_032698 pseudo HGNC:39373 INFERRED 4889700 HMGN1P31 high mobility group nucleosome binding domain 1 pseudogene 31 18 18 18 q21.32 55179805 55180155 - 58461840 58462136 - 60794607 60794903 - 11181995;12727900 728111 ABBA01056178;AC113137;AMYH02034852;CH471096;NG_027983 EAW63107 hCG1659830;high-mobility group nucleosome binding domain 1 pseudogene 31 APPROVED pseudo HGNC:39375 INFERRED 6769767 HMGN1P32 high mobility group nucleosome binding domain 1 pseudogene 32 19 19 54271225 54271807 - 53767971 53768553 - 12727900 100874465 ABBA01068200;AC008753;AMYH02036431;NG_032275 pseudo HGNC:39376 INFERRED 6769795 HMGN1P33 high mobility group nucleosome binding domain 1 pseudogene 33 X X 9833133 9833583 - 9865093 9865543 - 12727900 100874446 ABBA01070763;AC002365;AMYH02038841;NG_032276 pseudo HGNC:39377 INFERRED 6769792 HMGN1P34 high mobility group nucleosome binding domain 1 pseudogene 34 X X 77775090 77775683 - 78519593 78520186 - 12727900 100874447 ABBA01030110;AL022150;AMYH02039828;NG_032277 pseudo HGNC:39378 INFERRED 6769794 HMGN1P35 high mobility group nucleosome binding domain 1 pseudogene 35 X X 68393967 68394560 + 69174124 69174717 + 12727900 100874448 ABBA01067433;AL157699;AMYH02039647;NG_032278 pseudo HGNC:39379 INFERRED 4889750 HMGN1P30 high mobility group nucleosome binding domain 1 pseudogene 30 18 18 18 q21.31 52403668 52404909 - 55684889 55686293 - 58017657 58019061 - 12727900 100132992 ABBA01056142;AC090324;AMYH02034802;NG_027555 APPROVED pseudo HGNC:39374 INFERRED 4890199 HMGN1P38 high mobility group nucleosome binding domain 1 pseudogene 38 15 15 15 q26.1 69666665 69667878 + 93254924 93256137 + 92711694 92712907 + 12727900 643790 ABBA01053095;AC091544;AMYH02031074;NG_005986 1898806 REN20199 APPROVED pseudo HGNC:39422 INFERRED 4890128 HMGN1P37 high mobility group nucleosome binding domain 1 pseudogene 37 X X X q28 154203119 154204343 - 154044574 154045796 - 154816299 154817521 - 11181995;12727900;21906983 728776 ABBA01029087;AC109993;AMYH02040860;CH471172;NG_005984 EAW72653;EAW72654 1820408;2039564;2039566;2039568;2039570;2039572;2039574;2039576;2039578;2039580;2039582;2039584;2039586;2039588;2102954;5105010 ECD11279;REN90806;REN90807;REN90808;REN90809;REN90810;REN90811;REN90812;REN90813;REN90814;REN90815;REN90816;REN90817;REN90818;stSG604312;stSG604313 APPROVED pseudo HGNC:39421 INFERRED 6480895 HMGN1P5 high mobility group nucleosome binding domain 1 pseudogene 5 1 1 158236543 158237110 - 158266753 158267320 - 12727900 100874429 ABBA01016629;AL121986;AMYH02002002;NG_032257 pseudo HGNC:39348 INFERRED 4889740 HMGN1P4 high mobility group nucleosome binding domain 1 pseudogene 4 1 1 1 q25.3 156021549 156022765 - 182910441 182911657 - 182941306 182942522 - 12727900 100036575 ABBA01027759;AL450304;AMYH02002277;NG_005989 APPROVED pseudo HGNC:39336 INFERRED 6480896 HMGN1P6 high mobility group nucleosome binding domain 1 pseudogene 6 2 2 207124352 207124642 - 206259628 206259918 - 12727900 100874430 ABBA01062654;AC007383;AMYH02005627;NG_032258 pseudo HGNC:39349 INFERRED 6480899 HMGN1P8 high mobility group nucleosome binding domain 1 pseudogene 8 3 3 167412143 167412430 - 167694355 167694642 - 12727900 100874431 ABBA01058725;AC079822;AMYH02008083;NG_032259 pseudo HGNC:39351 INFERRED 4889674 HMGN1P36 high mobility group nucleosome binding domain 1 pseudogene 36 2 2 2 q11.2 92647643 92648783 + 98443615 98444813 + 97827152 97828350 + 12727900 728851 ABBA01073975;AC079337;AMYH02004379;NG_005985 APPROVED pseudo HGNC:39380 INFERRED 6481000 HMGN1P9 high mobility group nucleosome binding domain 1 pseudogene 3 3 134104039 134104336 + 134385197 134385494 + 100874410 ABBA01059156;AC010207;AMYH02007720;NG_032260 pseudo HGNC:39352 INFERRED 1353913 HMGN2P1 high mobility group nucleosomal binding domain 2 pseudogene 1 14 14 14 q11.2 3595011 3595701 - 23732310 23733000 - 23263101 23263791 - 12727900 319132 ABBA01061318;AL049829;AMYH02028868;NG_002510 HMGN2L1;HMGN2P APPROVED pseudo HGNC:19930 INFERRED 4889699 HMGN1P7 high mobility group nucleosome binding domain 1 pseudogene 7 3 3 3 q11.2 92090971 92091761 - 93706790 93707906 - 93987946 93989062 - 12727900 100129555 ABBA01026971;AC117474;AC245469;NG_028937 APPROVED pseudo HGNC:39350 INFERRED 1342849 HMGN2P10 high mobility group nucleosomal binding domain 2 pseudogene10 22 22 22 q13.2-q13.31 25911629 25911893 - 42105227 42105491 - 41709223 41709487 - 10591208;12727900 23606 ABBA01055651;AMYH02038447;NG_000892;Z83840 HMG17L2;HMGN2L10;bK216E10 APPROVED pseudo HGNC:4988 INFERRED 1349990 HMGN2P12 high mobility group nucleosomal binding domain 2 pseudogene 12 6 q21 107999036 108000344 - 3441004 3153 FO393434;NG_001142;X06444 2158268 D6S1996 60H;HMG17P2;HMGN2L12 APPROVED pseudo HGNC:4991 INFERRED 1347323 HMGN2P11 high mobility group nucleosomal binding domain 2 pseudogene 11 7 7 7 q21.11 79209340 79210680 + 84505800 84507140 + 84876484 84877824 + 3441004 3152 ABBA01045886;AC074183;AMYH02016193;CH236949;NG_001141;X06353 1729011 Hmgn2 28H;HMG17P1;HMGN2L11 APPROVED pseudo HGNC:4990 INFERRED 4889258 HMGN2P13 high mobility group nucleosomal binding domain 2 pseudogene 13 3 3 q25.2 152784944 152786164 + 153067155 153068375 + 12727900 100289682 ABBA01058885;AC117394;AMYH02007921;NG_028936 APPROVED pseudo HGNC:33557 INFERRED 6482593 HMGN2P14 high mobility group nucleosomal binding domain 2 pseudogene14 14 14 64259681 64260790 + 63792963 63794072 + 12727900 100874458 ABBA01018338;AL161670;AMYH02029342;NG_032185 pseudo HGNC:23341 INFERRED 1350424 HMGN2 high mobility group nucleosomal binding domain 2 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN chromatin (inferred); cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2,3-dimethoxynaphthalene-1,4-dione; 4-hydroxyphenyl retinamide; 5-aza-2'-deoxycytidine 1 1 1 p36.1 25196117 25200344 + 26798902 26803133 + 26472411 26476642 + 1580863;6480464 10207070;10640150;10753971;11246012;11337467;11410162;11438671;12032302;12477932;15489334;16710414;17474147;17709345;18029348;18287527;18299391;19524541;20016921;2037294;2040281;20842856;21044950;21139048;21319273;21518253;21730181;21816901;21906983;22267324;23000965;23314748;2394451;24816145;24872413;2565024;3754870;4022776;7563062;9852141 3151 P05204 ABBA01034911;AK026562;AL513365;AMYH02000568;AU100588;BC000378;BC003050;BC003689;BC007124;BC014644;BC020307;BC032140;BC061898;BC064347;BC070297;BC071707;BC072010;BC072011;BC075837;BC081567;BC110390;BU074476;CH471059;CR542122;M12623;NM_005517;X13546 AAA52678;AAH00378;AAH03050;AAH14644;AAH32140;AAH70297;AAH71707;AAH72010;AAH72011;AAH75837;AAH81567;AAI10391;ABZ92038;CAA31898;CAG46919;EAX07803;NP_005508;P05204 Hs.181163 1769256;5038352 ECD09439;SHGC-74438 HMG17;MGC5629;MGC88718 OTTHUMP00000003669;high mobility group nucleosome-binding domain-containing protein 2;high mobility group protein N2;high-mobility group (nonhistone chromosomal) protein 17;high-mobility group nucleosomal binding domain 2;non-histone chromosomal protein HMG-17;nonhistone chromosomal protein HMG-17 APPROVED protein-coding HGNC:4986 01230 163910 VALIDATED 4889376 HMGN2P15 high mobility group nucleosomal binding domain 2 pseudogene 15 17 17 17 q21.31 37561823 37562095 - 40904749 40905924 - 42752731 42753906 - 12727900 100288165 ABBA01006409;AC100793;AMYH02033436;NG_028969 APPROVED pseudo ENSG00000214578 HGNC:39020 INFERRED 1352506 HMGN2P16 high mobility group nucleosomal binding domain 2 pseudogene 16 9 9 9 p22.3 15522224 15522484 + 15588353 15588613 + 15588355 15588615 + 12727900 728234 ABBA01065273;AL513423;AMYH02019212;NG_005991 HMGN2L APPROVED pseudo HGNC:31330 INFERRED 6769769 HMGN2P19 high mobility group nucleosomal binding domain 2 pseudogene 19 1 1 229706279 229706543 + 229570532 229570796 + 12727900 100874466 ABBA01009827;AL121990;AMYH02002872;NG_032279 pseudo HGNC:39383 INFERRED 1343072 HMGN2P2 high mobility group nucleosomal binding domain 2 pseudogene 2 14 14 14 q31.1 61328716 61329893 + 81288773 81289950 + 80822429 80823606 + 12727900 317726 ABBA01030613;AC022404;AMYH02029618;NG_002460 HMGN2L2 APPROVED pseudo HGNC:20016 INFERRED 4889688 HMGN2P18 high mobility group nucleosomal binding domain 2 pseudogene 18 1 1 1 q22 128191565 128193072 + 155120947 155122754 + 155148471 155150278 + 12727900 648822 ABBA01016715;AL607067;AMYH02001940;NG_027556 APPROVED pseudo HGNC:39382 INFERRED 4889677 HMGN2P17 high mobility group nucleosomal binding domain 2 pseudogene 17 1 1 1 p36.23 8062225 8063417 + 8953470 8954662 + 8893411 8894603 + 12727900 100113373 ABBA01035526;AL139415;AMYH02000224;NG_006598 APPROVED pseudo HGNC:39381 INFERRED 6483725 HMGN2P20 high mobility group nucleosomal binding domain 2 pseudogene 20 2 2 2 p23.3 24393495 24393767 + 24553176 24555225 + 24330307 24332356 + 12727900 646049 ABBA01045109;AC009228;AMYH02003411;NG_029250;NG_029516 pseudo HGNC:39385 INFERRED 6769776 HMGN2P21 high mobility group nucleosomal binding domain 2 pseudogene 21 2 2 71030289 71030558 + 70803157 70803426 + 12727900 100874467 ABBA01075541;AC007395;AMYH02004043;NG_032280 pseudo HGNC:39386 INFERRED 6769771 HMGN2P22 high mobility group nucleosomal binding domain 2 pseudogene 22 2 2 101207590 101207788 + 100591128 100591326 + 12727900 100874468 ABBA01073926;AC068538;AMYH02004413;NG_032281 pseudo HGNC:39387 INFERRED 6769777 HMGN2P23 high mobility group nucleosomal binding domain 2 pseudogene 23 2 2 113738743 113739011 - 112981166 112981434 - 12727900 100874469 ABBA01074248;AC016724;AMYH02004595;NG_032282 pseudo HGNC:39388 INFERRED 6769773 HMGN2P26 high mobility group nucleosomal binding domain 2 pseudogene 26 3 3 167676532 167676870 + 167958744 167959082 + 12727900 100874470 ABBA01058724;AC128713;AMYH02008084;NG_032284 pseudo HGNC:39393 INFERRED 6769774 HMGN2P27 high mobility group nucleosomal binding domain 2 pseudogene 27 5 5 115553723 115553992 - 116218026 116218295 - 12727900 100874471 ABBA01069025;AC109456;AMYH02012012;NG_032285 pseudo HGNC:39394 INFERRED 4889660 HMGN2P24 high mobility group nucleosomal binding domain 2 pseudogene 24 3 3 3 p22.1 40678142 40690459 - 40739740 40740926 - 40698249 40699435 - 12727900 729505 ABBA01024789;AC116441;AMYH02006599;NG_027554 APPROVED pseudo HGNC:39389 INFERRED 6769772 HMGN2P29 high mobility group nucleosomal binding domain 2 pseudogene 29 6 6 121729688 121729961 + 121408542 121408815 + 12727900 100874472 ABBA01025999;AL139098;AMYH02014396;NG_032286 pseudo HGNC:39396 INFERRED 4889659 HMGN2P25 high mobility group nucleosomal binding domain 2 pseudogene 25 3 3 3 q23 140007386 140007658 - 141582711 141584219 - 141863869 141865377 - 12727900 729687 ABBA01059039;AC112504;AMYH02007808;NG_027552 APPROVED pseudo HGNC:39392 INFERRED 4889658 HMGN2P30 high mobility group nucleosomal binding domain 2 pseudogene 30 7 7 7 p14.1 42143700 42143958 + 42152850 42154050 + 42113251 42114451 + 12727900;9847074 100131183 ABBA01058171;AC073852;AMYH02015595;NG_008434;NG_028947 APPROVED pseudo HGNC:39397 INFERRED 1626548 HMGN2P3 high mobility group nucleosomal binding domain 2 pseudogene 3 16 16 16 p12.1 24819433 24820646 - 26043038 26044245 - 26031717 26032924 - 10763410;12727900;9988767 728632 ABBA01017130;AC093509;AMYH02031756;NG_006611 1822126;1829396;1832052;1836210;1841516;1842350;1901218;1901220;1901222;1901224;1901226;1901228;1901230;1901232;1901234;1901236;1901238;1901240;1901242;1901244;1901246;1901248;1901250;1901252;1901254;1901256;1901258;1901260;1901262;1901264;1901266;1901268;1901270;1901272;1901274;1901276;1901278;1901280;1901282;1901284;1901286;1901288;1901290;1901292;1901294;1901296;1901298;2203550;2203552;2203554;2203556;2203558;2203560;2203562;2203564 ECD12149;ECD15829;ECD17164;ECD19266;ECD21955;ECD22378;REN21408;REN21409;REN21410;REN21411;REN21412;REN21413;REN21414;REN21415;REN21416;REN21417;REN21418;REN21419;REN21420;REN21421;REN21422;REN21423;REN21424;REN21425;REN21426;REN21427;REN21428;REN21429;REN21430;REN21431;REN21432;REN21433;REN21434;REN21435;REN21436;REN21437;REN21438;REN21439;REN21440;REN21441;REN21442;REN21443;REN21444;REN21445;REN21446;REN21447;REN21448;stSG622150;stSG622151;stSG622152;stSG622153;stSG622154;stSG622155;stSG622156;stSG622157 HMGN2L3 APPROVED pseudo HGNC:33566 INFERRED 6769775 HMGN2P32 high mobility group nucleosomal binding domain 2 pseudogene 32 9 9 110220319 110220587 - 107458038 107458306 - 12727900 100874473 ABBA01042790;AL359552;AMYH02021419;NG_032289 pseudo HGNC:39403 INFERRED 6769778 HMGN2P33 high mobility group nucleosomal binding domain 2 pseudogene 33 9 9 86693499 86693772 + 84078584 84078857 + 12727900 100874474 ABBA01034017;AL390838;AMYH02021128;NG_032290 pseudo HGNC:39404 INFERRED 4889647 HMGN2P31 high mobility group nucleosomal binding domain 2 pseudogene 31 9 9 9 p24.1 5237066 5237337 + 5311423 5312732 + 5311423 5312732 + 12727900 645930 ABBA01065415;AL135786;AMYH02019083;NG_028976 FLJ39176 APPROVED pseudo HGNC:39398 INFERRED 4889770 HMGN2P28 high mobility group nucleosomal binding domain 2 pseudogene 28 6 6 6 p25.2 3569764 3570030 + 2341591 2342734 + 2341357 2342500 + 12727900 100128372 ABBA01048635;AL031768;AL158139;AL591120;AMYH02012976;CH471087;NG_027664 EAW55079 1684457;1710882;1781200;2115309;2161795 L17960;RH80176;SHGC-84220;STS-N23009;stSG12383 APPROVED pseudo HGNC:39395 INFERRED 6769782 HMGN2P34 high mobility group nucleosomal binding domain 2 pseudogene 34 10 10 74396255 74396523 - 72636497 72636765 - 12727900 100874478 ABBA01020350;AL513185;AMYH02023322;NG_032291 pseudo HGNC:39405 INFERRED 6769779 HMGN2P35 high mobility group nucleosomal binding domain 2 pseudogene 35 10 10 98675390 98675659 - 96915633 96915902 - 12727900 100874479 ABBA01021820;AL162502;AMYH02023601;NG_032292 pseudo HGNC:39406 INFERRED 6769781 HMGN2P36 high mobility group nucleosomal binding domain 2 pseudogene 36 11 11 13631942 13632211 - 13610395 13610664 - 12727900 100874480 ABBA01061121;AC026843;AMYH02024350;NG_032293 pseudo HGNC:39407 INFERRED 6769785 HMGN2P37 high mobility group nucleosomal binding domain 2 pseudogene 37 11 11 45535739 45536003 + 45514189 45514453 + 12727900 100874481 ABBA01060761;AC103855;AMYH02024693;NG_032294 pseudo HGNC:39408 INFERRED 6769784 HMGN2P38 high mobility group nucleosomal binding domain 2 pseudogene 38 11 11 73291191 73291601 + 73580146 73580556 + 12727900 100874482 ABBA01017516;AP000860;NG_032295 pseudo HGNC:39409 INFERRED 6769786 HMGN2P39 high mobility group nucleosomal binding domain 2 pseudogene 39 13 13 59584352 59584769 + 59010218 59010635 + 12727900 100874483 ABBA01037004;AL359262;NG_032296 pseudo HGNC:39410 INFERRED 6769783 HMGN2P40 high mobility group nucleosomal binding domain 2 pseudogene 40 15 15 68546971 68547239 + 68254633 68254901 + 12727900 100874484 ABBA01038785;AC107871;AMYH02030683;NG_032297 pseudo HGNC:39411 INFERRED 4889661 HMGN2P41 high mobility group nucleosomal binding domain 2 pseudogene 41 6 16 16 p11.1 67421169 67422353 - 35036461 35037645 - 35802090 35803274 - 12727900 729564 ABBA01002110;AC106785;AMYH02031961;NG_006599 2134275 D16S3220 APPROVED pseudo HGNC:39412 INFERRED 6769788 HMGN2P42 high mobility group nucleosomal binding domain 2 pseudogene 42 17 17 58512494 58512897 - 60435133 60435536 - 12727900 100874485 ABBA01035408;AC037475;AMYH02033722;NG_032298 pseudo HGNC:39413 INFERRED 6769787 HMGN2P43 high mobility group nucleosomal binding domain 2 pseudogene 43 17 17 74341919 74342162 + 76345838 76346081 + 12727900 100874486 ABBA01028746;AC090699;AMYH02034010;NG_032299 pseudo HGNC:39414 INFERRED 6482592 HMGN2P44 high mobility group nucleosomal binding domain 2 pseudogene 44 18 18 29612408 29614508 - 32032445 32034545 - 12727900 100874487 ABBA01022497;AC009831;AMYH02034517;NG_032582 pseudo HGNC:39415 INFERRED 6769780 HMGN2P45 high mobility group nucleosomal binding domain 2 pseudogene 45 X X 17151116 17151521 - 17132993 17133398 - 12727900 100874475 ABBA01071515;AL732371;AMYH02038937;NG_032301 pseudo HGNC:39416 INFERRED 1626586 HMGN2P4 high mobility group nucleosomal binding domain 2 pseudogene 4 5 5 5 q13.3 71430667 71431871 - 75537026 75538230 - 76241201 76242405 - 12727900 643744 ABBA01061954;AC113404;AMYH02011601;NG_006596 HMGN2L4 APPROVED pseudo HGNC:33567 INFERRED 1351115 HMGN2P46 high mobility group nucleosomal binding domain 2 pseudogene 46 INTERACTS WITH cadmium atom; copper(2+) sulfate; hydrogen peroxide 15 15 15 q21.1 22694488 22740083 + 45803334 45848928 + 45511136 45556730 + 6480464 12477932;12727900;14702039;15027122;19322201;24043589 283651 Q86SG4 ABBA01039176;ABBA01039177;ABBA01039178;ABBA01039179;ABBA01039180;AC025580;AC090527;AK096745;AMYH02030359;AY271964;AY271965;AY271966;AY271967;BC062412;NR_022014 AAP12643;AAP12644;AAP12645;AAP12646;BAC04856 Hs.574240 5022588 D5S1597E C15orf21;D-PCa-2;FLJ39426 APPROVED pseudo HGNC:26817 16622 611314 VALIDATED 1626584 HMGN2P5 high mobility group nucleosomal binding domain 2 pseudogene 5 15 15 15 q13.1 7664155 7665349 + 30022816 30024010 + 29730612 29731806 + 12727900 727795 ABBA01010400;AC022613;AC243587;NG_006579 HMGN2L5 APPROVED pseudo HGNC:33568 INFERRED 1626583 HMGN2P6 high mobility group nucleosomal binding domain 2 pseudogene 6 14 14 14 q12 5599951 5601144 - 25735447 25736640 - 25266241 25267434 - 12727900 643872 ABBA01061350;AL163052;AMYH02028883;NG_006597 1776646 SHGC-31747 HMGN2L6 APPROVED pseudo ENSG00000257179 HGNC:33574 INFERRED 1626555 HMGN2P7 high mobility group nucleosomal binding domain 2 pseudogene 7 3 3 3 p25.1 15353999 15355505 - 15415758 15417265 - 15374251 15375758 - 12727900 644498 ABBA01025141;AC027125;AMYH02006331;NG_006600 HMGN2L7 APPROVED pseudo HGNC:33575 INFERRED 4889301 HMGN2P8 high mobility group nucleosomal binding domain 2 pseudogene 8 10 10 10 q23.1 79835994 79837175 + 85841087 85842567 + 84081331 84082811 + 12727900;20208534;20379614 100288691 ABBA01003761;AC022394;AL390786;AMYH02023448;NG_027510 1334787;1340609;1717951 D10S1658;D10S1689;RH122802 AC022394.1;HMGN2L8 APPROVED pseudo HGNC:31662 INFERRED 1346737 HMGN2P9 high mobility group nucleosomal binding domain 2 pseudogene 9 22 22 22 q13.2 28109284 28110743 + 44197989 44199448 + 43802109 43803568 + 10591208;12727900 23605 ABBA01014581;AMYH02038480;NG_002646;NG_030019;Z97055 HMG17L1;HMGN2L9;dJ388M5;dJ388M5.2 APPROVED pseudo HGNC:4987 INFERRED 7248290 HMGN3-AS1 HMGN3 antisense RNA 1 6 6 6 q14.1 80330651 80333779 + 79943391 79946517 + 79233674 79236800 + 16344560 100288198 AA256476;ABBA01040407;AL355796;AMYH02013967;BC042096;DA046558;NG_029598;NR_040671 Hs.586270 ncrna ENSG00000270362 HGNC:48984 VALIDATED 4889283 HMGN3P1 high mobility group nucleosomal binding domain 3 pseudogene 1 1 1 1 q21.3 125482740 125483145 + 152371939 152376159 + 152399463 152403683 + 12727900 100289191 ABBA01049416;AL135842;AMYH02001891;NG_028929 pseudo HGNC:39206 INFERRED 1352330 HMGN3 high mobility group nucleosomal binding domain 3 Thyroid hormone receptors are hormone-dependent transcription factors that regulate expression of a variety of specific target genes. The protein encoded by this gene binds thyroid hormone receptor beta, but only in the presence of thyroid hormone. The encoded protein, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 6 6 6 q14.1 80298225 80331717 - 79910962 79944455 - 79201245 79235470 - 1580863;6480464 11356838;12033773;12477932;14574404;14702039;15489334;15604093;17081983;17474147;18029348;19651901;21044950;21906983;21947420;21963094;23000965;23602568;24816145;7776974 9324 Q15651 ABBA01040406;ABBA01040407;AF274949;AF401520;AK124181;AK315391;AL355796;AMYH02013967;AY043282;BC009529;BF790582;BI551210;BK000003;BK000006;BX648085;CH471051;L40357;NG_029598;NM_001201362;NM_001201363;NM_004242;NM_138730;XM_005248768;XM_005248769;XM_006715604 AAA73877;AAH09529;AAK07526;AAK85736;AAK92012;BAG37784;CAI46267;DAA00392;DAA00395;EAW48711;EAW48712;EAW48713;EAW48714;EAW48715;NP_001188291;NP_001188292;NP_004233;NP_620058;Q15651;XP_005248825;XP_005248826;XP_006715667 Hs.77558 1671239;1857736;2108147;2118893;2172698 A003P21;HMGN3_8925;HSC2GA122;RH46791;SHGC-33129 DKFZp686E20226;FLJ42187;PNAS-24;PNAS-25;TRIP-7;TRIP7 OTTHUMP00000016772;OTTHUMP00000016773;TR-interacting protein 7;high mobility group nucleosome-binding domain-containing protein 3;high-mobility group protein HMGN3;thyroid hormone receptor interacting protein 7;thyroid hormone receptor interactor 7;thyroid receptor-interacting protein 7 APPROVED protein-coding ENSG00000118418 HGNC:12312 16062 604502 REVIEWED 1344098 HMGN4 high mobility group nucleosomal binding domain 4 The protein encoded by this gene, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. [provided by RefSeq, Mar 2013] 6 6 6 p21.3 27767909 27776509 + 26538572 26547165 + 26538344 26546937 + 1580863;6480464 11410162;12477932;14574404;15489334;16344560;18029348;20211142;21044950;24816145;9149941 10473 O00479 ABBA01066557;ABBA01066558;AK311841;AL121936;AMYH02013353;AMYH02013354;AU143224;BC001282;BC035998;BT009824;CH471087;NM_006353;U90549 AAB53427;AAH01282;AAP88826;ADR82730;BAG34783;EAW55586;EAW55587;EAW55588;EAW55589;EAW55590;NP_006344;O00479 Hs.236774 1654487;1656380;1712322;1856273;1856969;2143106 D6S2358;G54070;RH46615;RH68775;SHGC-35158;WI-13558 HMG17L3;MGC5145;NHC OTTHUMP00000016171;high mobility group nucleosome-binding domain-containing protein 4;high mobility group protein N4;high-mobility group (nonhistone chromosomal) protein 17-like 3;high-mobility group protein 17-like 3;non-histone chromosomal protein HMG-17-like 3 APPROVED protein-coding HGNC:4989 17111 REVIEWED 2302190 HMGXB3 HMG box domain containing 3 This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011] 5 5 5 q32 145461556 145514089 + 149380169 149432706 + 150000606 150053143 + 6480464 12477932;16344560;18029348;20041166;21900206;21906983;2524025;8724849;8786123;8889548;9027509 22993 E9PEK0;H0YAC2;Q12766;Q562E5 ABBA01026287;ABBA01026288;AC011382;AC011406;AMYH02012455;BC005880;BC035219;BC035434;BC051025;BC063691;BC092520;BM974831;D83778;DA324742;NG_021389;NM_014983;U63963;XM_006714765;XM_006714766;XM_006714767 AAB51697;AAH05880;AAH51025;AAH63691;AAH92520;BAA12107;NP_055798;Q12766;XP_006714828;XP_006714829;XP_006714830 Hs.719189 1668579;1680968;1692948;1736828;1740407;1740515;1780594;2150928;2191689 AL034189;D5S1708;D5S1865;D5S2222E;D5S2305E;MARC_5049-5050:996690089:1;RH15986;RH25407;bac51323T HMGX3;KIAA0194;SMF HMG domain-containing protein 3;OTTHUMP00000224090;OTTHUMP00000224091 APPROVED protein-coding ENSG00000113716 HGNC:28982 VALIDATED 1318685 HMGN5 high mobility group nucleosome binding domain 5 This gene encodes a nuclear protein with similarities to the high mobility group proteins, HMG14 and HMG17, which suggests that this protein may function as a nucleosomal binding and transcriptional activating protein. [provided by RefSeq, Sep 2009] X X X q13.3 80609351 80697598 - 80369200 80457441 - 81113701 81201942 - 1580863;6480464 11161810;12477932;14702039;15489334;15592455;16344560;18029348;19748358;20123071;20531280;21139048;21282530;21373965;21518955;21693764;21695596;22420896;22504871;22994738;23673662;24664583;24687550;24816145 79366 P82970;Q5JSK6;Q5JSK7;Q5JSK8;Q5JSK9;Q5JSL0 ABBA01049181;ABBA01049182;ABBA01049183;ABBA01049184;ABBA01049185;ABBA01049186;ABBA01049187;AF250329;AF250330;AK094058;AK315792;AL357115;AL391294;AL590810;AMYH02039850;AMYH02039851;BC005342;CH471104;DA745749;NG_013234;NM_030763;XM_006724688;XM_006724689;XM_006724690 AAH05342;AAK14062;AAK14063;ABZ92517;BAG38137;EAW98582;NP_110390;P82970;XP_006724751;XP_006724752;XP_006724753 Hs.282204 NBP-45;NSBP1 OTTHUMP00000023610;OTTHUMP00000023611;OTTHUMP00000023612;OTTHUMP00000023613;OTTHUMP00000023614;OTTHUMP00000023615;high mobility group nucleosome-binding domain-containing protein 5;high-mobility group nucleosome binding domain 5;nucleosomal binding protein 1;nucleosome-binding protein 1 APPROVED protein-coding ENSG00000198157 HGNC:8013 02310 300385 REVIEWED 1314021 HMGXB4 HMG box domain containing 4 High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010] 22 22 22 q13.1 19456143 19494488 + 35653445 35691800 + 35257345 35295807 + 1580863;6480464;8554872 10329004;10591208;12477932;12529303;15461802;16455055;17671966;18029348;20379614;20511232;20800603;21900206;22939629;23455924 10042 B0QXZ8;B0QXZ9;F8WDU7;Q7Z641;Q9UGU5 ABBA01055412;AI471703;AJ010069;AJ010070;AK299833;AL008635;AL079310;AMYH02038299;BC004194;BC011723;BC017326;BC025303;BC033783;BC040447;BC052624;BC062413;BC080611;BC104754;BC104756;BC111373;CB991207;CH471095;CR456504;DW452042;NM_001003681;NR_027780;XM_006724100;XM_006724101;XM_006724102 AAH04194;AAH17326;AAH25303;AAH52624;AAH62413;AAI04755;AAI04757;AAI11374;BAG61700;CAA08991;CAA08992;CAB45240;CAG30390;CAK54533;CAK54832;EAW60048;EAW60049;EAW60050;EAW60051;NP_001003681;Q9UGU5;XP_006724163;XP_006724164;XP_006724165 Hs.588815 1685744;2143142;2191231;5491527 AL008649;MARC_16659-16660:1017782419:3;MARC_17057-17058:1023803570:1;RH91140 HMG2L1;HMGBCG;THC211630 HMG box-containing protein 4;HMG domain-containing protein 4;OTTHUMP00000197368;high mobility group protein 2-like 1;high-mobility group protein 2-like 1 APPROVED protein-coding ENSG00000100281 HGNC:5003 05267 604702 VALIDATED 1602470 HMHB1 histocompatibility (minor) HB-1 This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates at a non-AUG (CUG) codon. [provided by RefSeq, Jul 2008] 5 5 5 q31.3 139272943 139281505 + 143191726 143200284 + 143812161 143820719 + 12477932;18093280;19240061;20353833;20718936;9892612 57824 O97980 ABBA01026361;AC025765;AF103884;AF233094;AMYH02012381;BC096711;BC098145;BC098244;BC098251;BC104412;BC104413;BC113894;BC113971;CH471062;NM_021182 AAC78642;AAF81110;AAI04413;AAI04414;EAW61867;NP_067005;O97980 Hs.158320 HB-1;HLA-HB1 OTTHUMP00000223248;minor histocompatibility antigen HB-1;minor histocompatibility protein HB-1 APPROVED protein-coding ENSG00000158497 HGNC:29677 17089 609961 REVIEWED 1346445 HMI hypomelanosis of Ito 7240710 11074501;12239727 3160 HGNC:5011 1606818 HMHA1 histocompatibility (minor) HA-1 ENCODES a protein that exhibits GTPase activator activity (inferred); metal ion binding (inferred); INVOLVED IN intracellular signal transduction (inferred); positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; amiodarone 19 19 19 p13.3 1000157 1019602 + 1065922 1086627 + 1065923 1087831 + 6480464;8554872 10958358;11095984;11920221;11965046;12091347;12477932;14502255;14702039;15146197;15350465;15498856;15593299;16344560;16984283;17580157;18093280;18414982;19234124;19608861;19913121;19946888;20509834;20628086;22505724;23128233;23571587;24086303;24147044;24250222;24816145;8843592;9039502;9461441;9820596 23526 B3KVA9;B3KXW7;F5H1R4;K7EM55;K7EM85;K7EQA4;K7ES92;K7ES98;Q92619 AA811117;ABBA01002619;ABBA01002620;ABBA01002621;AC004151;AC011558;AC093066;AF092537;AF207595;AF207596;AF207597;AF236756;AF308045;AF308046;AF308047;AF308048;AF308049;AF308050;AF308051;AF308052;AF308053;AF308054;AF308055;AF308056;AF308057;AF308058;AF308059;AF308060;AF308061;AF308062;AF308063;AF308064;AF308065;AF308066;AK122776;AK128097;AK300341;AK304271;AK304765;AMYH02035132;AMYH02035133;BC035564;BC048129;BC065223;BE279735;BU838153;BX119705;CH471139;CN312499;CX871629;D86976;DB135747;DB157802;DB162560;DC382305;NM_001258328;NM_001282334;NM_001282335;NM_012292;XM_006722713 AAC03237;AAC64140;AAF91292;AAG02014;AAG02015;AAG02016;AAH35564;AAH48129;AAH65223;AAN04658;BAA13212;BAG53721;BAG54629;BAG62086;BAG65520;BAH14146;EAW69551;EAW69552;EAW69553;EAW69554;EAW69555;NP_001245257;NP_001269263;NP_001269264;NP_036424;Q92619;XP_006722776 Hs.465521;Hs.710732 1676005;1734694;1848583;2216966 ABCA7_2692;D19S692E;RH25429;RH80177 ARHGAP45;HA-1;HLA-HA1;KIAA0223 minor histocompatibility antigen HA-1;minor histocompatibility protein HA-1 protein-coding ENSG00000180448 HGNC:17102 03097 601155 VALIDATED 737426 HMMR hyaluronan-mediated motility receptor (RHAMM) The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008] 5 5 5 q34 158921625 158953052 + 162887517 162918951 + 163460511 163491945 + 1580863;6480464;6907045;7240710 10216086;10547355;10882722;11403955;11433424;11448954;11716065;12225794;12477932;12712331;12808028;12939665;15705883;15809329;1602151;16112646;16344560;16565220;17157168;17392272;17395888;17872502;17922014;17978170;18174258;18354082;18425326;18559599;18971636;19001852;19011633;19064580;19092852;19148505;19212667;19424574;19580345;19724689;19826009;19857547;19946888;20301425;20309963;20360068;20619784;20849445;20956971;21139048;21274712;21435222;21903422;21914806;22095138;22110403;22371883;22532518;22610405;23166824;23328114;23382057;23455922;24069434;24250222;24367099;24710409;24816145;7541721;7683315;8595891;8890751;9601098 3161 E5RI30;E5RIH2;O75330 ABBA01044183;AC112205;AF032862;AK290577;AK302975;AK303616;AK313603;AMYH02012635;AW629232;AY623426;BC017793;BC030505;BC033568;BC057235;BC070281;BC107869;BC108904;BC108905;CH471062;DB091289;KF458047;NG_023309;NM_001142556;NM_001142557;NM_012484;NM_012485;U29343 AAC32548;AAC52049;AAH17793;AAH30505;AAH57235;AAH70281;AAI08905;BAF83266;BAG64118;BAG64626;EAW61521;EAW61522;EAW61523;EAW61524;EAW61525;NP_001136028;NP_001136029;NP_036616;NP_036617;O75330 Hs.740467 1649246;2137591;2159867;5491792 HMMR;L28345;RH36151;SGC32710 CD168;MGC119494;MGC119495;RHAMM IHABP;OTTHUMP00000160919;OTTHUMP00000160920;OTTHUMP00000196920;OTTHUMP00000224276;OTTHUMP00000224277;hyaluronan mediated motility receptor;intracellular hyaluronic acid binding protein;intracellular hyaluronic acid-binding protein;receptor for hyaluronan-mediated motility APPROVED protein-coding ENSG00000072571 HGNC:5012 02963 114480;600936 REVIEWED 8550667 HMMR-AS1 HMMR antisense RNA 1 5 5 q34 162909610 162921064 - 163482604 163494058 - 12477932 101927813 ABBA01044183;AC112205;AMYH02012635;BC035392;HG498688;NR_109892 Hs.726818 ncrna HGNC:49149 VALIDATED 68991 HMOX2 heme oxygenase (decycling) 2 Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. Several alternatively spliced transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] 16 16 16 p13.3 4733625 4769241 + 4524719 4560348 + 4474703 4510347 + 1580863;6480464;6907045 11027601;11171041;11572959;12057765;12477932;12578814;12775419;12909459;14506930;14527438;14615405;14702039;15342556;15489334;15528406;1575508;16043027;16137652;16169070;16344560;17064313;17510199;17540772;17601350;17965015;18977241;19246912;19345412;19399816;19473966;19615732;19874887;19886851;19946888;20118244;20485444;20502928;20629646;21044367;21139048;21506105;21647550;21709601;21765894;21804464;21890473;21900206;21963094;21988832;22545110;22559824;22892400;22923613;22935040;23792437;24583282;24816145;7890772;8034330;8125298;8764571;9284910 3163 B3KSE0;I3L159;I3L1F5;I3L1G7;I3L1Y2;I3L276;I3L463;I3L4P8;P30519 ABBA01026776;ABBA01026777;AC007606;AF051306;AK093388;AK222629;AK313660;AMYH02031325;AY771350;BC002396;BE561721;BI225653;BM905872;BP329113;BP368949;BP369861;BT019788;CH471112;CR456760;CR541839;D21243;DA141643;DA694137;DB184091;NM_001127204;NM_001127205;NM_001127206;NM_001286267;NM_001286268;NM_001286269;NM_001286270;NM_001286271;NM_002134;S34389 AAB22110;AAC05297;AAH02396;AAV28730;AAV38591;ACE86463;ACE87144;BAA04789;BAD96349;BAG52702;CAG33041;CAG46638;EAW85299;EAW85300;NP_001120676;NP_001120677;NP_001120678;NP_001273196;NP_001273197;NP_001273198;NP_001273199;NP_001273200;NP_002125;P30519 Hs.284279 1738547;1742955;1795978;2156994 D16S2719;GDB:217012;HMOX2_1426;SHGC-61112 HO-2 OTTHUMP00000159847;heme oxygenase 2 APPROVED protein-coding ENSG00000103415 HGNC:5014 00783 141251 REVIEWED 1344965 HMS1 homosexuality 1 8332896 3165 HGNC:5016 1602121 HMP19 HMP19 protein ENCODES a protein that exhibits clathrin light chain binding (inferred); INVOLVED IN clathrin coat assembly (inferred); dopamine receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic vesicle (inferred); endosome (inferred); Golgi apparatus (inferred); INTERACTS WITH benzo[a]pyrene; doxorubicin; uranium atom 5 5 5 q35.2 169505599 169569066 + 173472607 173536182 + 174045604 174109179 + 6480464;8554872 10931946;12477932;15383276;15489334;16169070;21900206;22589738;23648065;7829526 51617 Q7Z4X6;Q9Y328 ABBA01044014;AC093310;AC113423;AF113537;AF123767;AF133422;AK098398;AK294383;AK295206;AK297196;AK312359;AK315952;AMYH02012788;AMYH02012789;BC002619;BC018873;CD627354;CH471062;CR457142;DC366641;EL950772;NM_015980 AAD30539;AAF14874;AAH02619;AAP97246;BAG35277;BAG57640;BAG58202;BAG59683;BAH14323;CAG33423;EAW61383;EAW61384;EAW61385;EAW61386;NP_057064;Q9Y328 Hs.559412 1671109;2111470;2112806;2112824;2112828;2114934;2133021;2133023 A001W46;D5S1762;D5S2362;D5S2823;D5S2834;D5S2836;G19730;STS-M78787 NSG2 OTTHUMP00000161104;OTTHUMP00000223950;OTTHUMP00000223951;OTTHUMP00000223952;hypothalamus golgi apparatus expressed 19 kDa protein;neuron-specific protein family member 2;p19 protein;protein p19 protein-coding ENSG00000170091 13664 VALIDATED 730901 HMOX1 heme oxygenase (decycling) 1 Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 19579740 19592881 + 35777060 35790207 + 35381067 35394214 + 1580454;1580455;1580470;1580472;1582708;1582709;1582711;1582713;1582715;1598406;1598408;1598409;1598410;1358658;1601607;1601608;1601621;1582701;1580452;1598392;1598393;1598394;1580453;1598395;1598396;1598397;1598398;1598399;1598400;1598401;1598402;1598403;1598404;1598405;1582702;1601606;1547877;1580863;1300048;4143390;4140396;4145288;4145326;4145332;4145406;4145366;4145370;4145403;4145404;4145408;4145412;4145131;4145362;4145325;4145338;4145371;4145514;4145286;4145134;4145269;4145296;4145327;4145372;4145384;4145318;4145349;4145350;4145289;4145410;4145283;4145302;4145305;4145306;4145346;4145417;4145353;4145416;4145307;4145300;1304397;6480464;6484113;6907045;7240710;7207796;7777175;8699517;8554872 10631150;11727267;12136229;12182912;12215473;12230867;12377749;12392996;12593860;12709584;12834255;12872043;12919086;12941774;12958158;12958201;12973103;14521259;14529548;14587309;14657544;14691581;14753445;14970910;15057912;15064108;15184199;15226268;15242554;15688187;15734859;15869055;15878918;16020495;16100019;16196283;16309574;16316349;16464361;16540907;16543643;16582079;16699460;16830363;16858012;17203192;17254481;17264168;17348295;17511582;18208666;18234118;18301921;19024100;19387321;19409105;19453654;19520142;19526221;19554654;19646271;19686725;19885035;20022212;20357190;20422170;20498946;20526373;20596599;20610858;20638132;20663303;20716121;20850789;20925964;20957739;20971094;22261574;7778849;8843786 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3162 B1AHA8;P09601;Q6FH11 ABBA01055413;AF051791;AK313120;AMYH02038301;AY460337;BC001491;BP288767;BT019785;CA306357;CH471095;CR456505;CR541945;CR541968;JF323038;M23041;M23042;NG_023030;NM_002133;X06985;X14782;Z82244 AAA50403;AAH01491;AAR23262;AAV38588;ABM83236;ABM86436;ADZ76424;BAG35941;CAA30045;CAA32886;CAG30391;CAG46743;CAG46766;CAK54534;CAK54833;EAW60059;NP_002124;P09601 Hs.517581 1689534;1790345;2217436 HMOX1;HMOX1_3225;RH27826 HMOX1D;HO-1;HSP32;bK286B10 OTTHUMP00000198812;heat shock protein, 32-kD;heme oxygenase 1 APPROVED protein-coding ENSG00000100292 HGNC:5013 00782 141250;606963;614034 REVIEWED 1312652 HMX1 H6 family homeobox 1 This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009] 4 4 4 p16.1 8752103 8753019 - 8847803 8873543 - 8846077 8871817 - 1580863;6480464;7240710;8699517;8554872 10206974;12477932;1360670;18423520;18976975;21417677;21697133;7647458 3166 F1T0J4;Q9NP08 AB593128;ABBA01016346;ABBA01016347;AC116612;AMYH02008703;M99587;NG_013062;NM_018942;U17648;XM_005248160 AAC50156;AAF70205;AAI60031;BAJ84068;NP_061815;Q9NP08;XP_005248217 Hs.104134 H6;NKX5-3 H6 homeodomain protein;OTTHUMP00000217518;homeobox protein H6;homeobox protein HMX1 APPROVED protein-coding ENSG00000215612 HGNC:5017 00873 142992;612109 REVIEWED 1602170 HMSD histocompatibility (minor) serpin domain containing This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. [provided by RefSeq, Oct 2010] 18 18 18 q22.1 58337038 58348095 + 61616588 61627646 + 63949354 63960412 + 6480464 16177791;17409267;8889548 284293 A8MTL9;P0C7T4 ABBA01056230;AC009802;AMYH02034888;AW205887;BM696260;NG_027807;NM_001123366 A8MTL9;NP_001116838 Hs.721604 1810566;1811090;1813894;1818510;1819342;1819744;1819798;1829854;1835048;1835868;1837106;1882582;1882584;1882586;1882588;1882590;1882592;1882594;1882596;1882598;1882600;1882602;1882604;1882606;1882608;1882610;1882612;1882614;1882616;1882618;1882620;1882622;1882624;1882626;1882628;1882630;1882632;1882634;1882636;1882638;1882640;1882642;1882644;1882646;1882648;1882650;1882652;1882654;1882656;1882658;1882660;1882662;1882664;1882666;1882668;1882670;1882672;1882674;1882676;1882678;1882680;1882682;1882684;1882686;1882688;1882690;1882692;1882694;1882696;1882698;1882700;1882702;2200324;2200326;2200328;2200330;2200332;2200334;2200336;2200338;2200340;2200342 ECD06276;ECD06543;ECD07974;ECD10317;ECD10738;ECD10942;ECD10969;ECD16060;ECD18677;ECD19095;ECD19718;REN11984;REN11985;REN11986;REN11987;REN11988;REN11989;REN11990;REN11991;REN11992;REN11993;REN11994;REN11995;REN11996;REN11997;REN11998;REN11999;REN12000;REN12001;REN12002;REN12003;REN12004;REN12005;REN12006;REN12007;REN12008;REN12009;REN12010;REN12011;REN12012;REN12013;REN12014;REN12015;REN12016;REN12017;REN12018;REN12019;REN12020;REN12021;REN12022;REN12023;REN12024;REN12025;REN12026;REN12027;REN12028;REN12029;REN12030;REN12031;REN12032;REN12033;REN12034;REN12035;REN12036;REN12037;REN12038;REN12039;REN12040;REN12041;REN12042;REN12043;REN12044;stSG619561;stSG619562;stSG619563;stSG619564;stSG619565;stSG619566;stSG619567;stSG619568;stSG619569;stSG619570 ACC-6;C18orf53;HSMD-v OTTHUMP00000066998;minor histocompatibility protein HMSD;minor histocompatibility serpin domain-containing protein;serpin-like protein HMSD APPROVED protein-coding HGNC:23037 612086 REVIEWED 1344941 HMX2 H6 family homeobox 2 The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012] 10 10 10 q26.13 118614169 118616719 + 124902006 124910188 + 123142421 123150672 + 6480464;8554872 12477932;15558495;19253379;20072845;7510254;7647458;9004130 3167 A2RU54 ABBA01062836;ABBA01062837;AC012391;AMYH02023960;BC132758;BC137139;BQ929484;CH471066;NM_005519;XM_005269743 A2RU54;AAI32759;AAI37140;EAW49288;NP_005510;XP_005269800 Hs.444756 H6L;Nkx5-2 H6 homeo box 2;OTTHUMP00000020683;homeo box (H6 family) 2;homeobox (H6 family) 2;homeobox protein H6 family member 2;homeobox protein HMX2 APPROVED protein-coding ENSG00000188816 HGNC:5018 18780 600647 REVIEWED 1603243 HMX3 H6 family homeobox 3 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN brain development (inferred); cell differentiation (inferred); embryo implantation (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; cefaloridine (ortholog) 10 10 10 q26.13 118602095 118603775 + 124895567 124897247 + 123136051 123137731 + 6480464 15164054;19253379;19615732;22779713;24024966 340784 A6NHT5 ABBA01062837;AC012391;AMYH02023960;AW088771;CH471066;NM_001105574 A6NHT5;EAW49289;NP_001099044 Hs.531194 5492277 Hmx3 NKX-5.1;NKX5.1;Nkx5-1 OTTHUMP00000020684;homeo box (H6 family) 3;homeobox (H6 family) 3;homeobox protein H6 family member 3;homeobox protein HMX3;homeobox protein Nkx-5.1 protein-coding ENSG00000188620 HGNC:5019 613380 VALIDATED 1352475 HNB1 hereditary neuroblastoma 1 54111 HGNC:5020 1348734 HN1 hematological and neurological expressed 1 INVOLVED IN developmental process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; 2-methylcholine; arsenous acid 17 17 17 q25.1 69723719 69743140 - 73131343 73150775 - 75135243 75154683 - 6480464;8554872 11054553;12477932;15094197;15489334;16169070;16344560;16602700;17081983;19145478;21139048;21323578;21906983;22155408;22505724;22939629;23000965;24816145;8125298 51155 F2Z3M5;J3KSH8;J3KT51;Q9H3K0;Q9UK76 ABBA01028813;ABBA01028814;ABBA01028815;AC022211;AF060925;AF086910;AF177862;AF266846;AF266847;AF348672;AK223321;AK308253;AK312613;AMYH02033983;AMYH02033984;AMYH02033985;AW675726;AY322169;AY322170;BC001420;BC039343;BG779109;CD359142;CH471099;DA604735;DB451153;NM_001002032;NM_001002033;NM_001288609;NM_001288610;NM_001288611;NM_016185;NR_109933;XM_006721931 AAD53312;AAG43137;AAH01420;AAH39343;AAL83903;AAP83838;AAP83839;AAP83962;AAP83963;AAP97140;AAQ14298;AAQ14299;ABM82835;ABM86020;ABM87834;ABW03454;BAD97041;BAG35500;EAW89244;EAW89245;EAW89246;EAW89247;NP_001002032;NP_001002033;NP_001275538;NP_001275539;NP_001275540;NP_057269;Q9UK76;XP_006721994 Hs.532803 1855342;2119832 RH12691;RH36500 ARM2;HN1A OTTHUMP00000205893;OTTHUMP00000205896;OTTHUMP00000205897;androgen-regulated protein 2;hematological and neurological expressed 1 protein protein-coding ENSG00000189159 HGNC:14569 13665 VALIDATED 1312960 HN1L hematological and neurological expressed 1-like FOUND IN cytoplasm; plasma membrane; INTERACTS WITH bilirubin; bisphenol A; copper atom 16 16 16 p13.3 1940552 1964346 + 1728201 1752073 + 1678277 1702072 + 6480464 10718198;11157797;12477932;14702039;15094197;15334068;15489334;16169070;16341674;16964243;18029348;19584346;21139048;21900206;21988832;22412018;23000965;24550385;24816145 90861 A6NGP5;B4DLH4;B4E1P3;H3BMM8;H3BMT0;H3BMV3;H3BS08;H3BTV5;H3BU16;Q9H910 ABBA01030299;AE006639;AK023154;AK296888;AK296998;AK303927;AK304025;AK309909;AK309930;AK316514;AL031009;AL031710;AMYH02031235;AY323831;AY323978;AY323979;AY598330;BC014438;BC060853;BM474060;BM837125;CH471112;CS489579;NM_144570 AAH14438;AAH60853;AAK61288;AAK61289;AAP72616;AAP83791;AAP83792;AAT06741;BAB14434;BAG59447;BAG59536;BAG64855;BAG64940;BAH14885;CAM57895;EAW85634;EAW85635;EAW85636;EAW85637;EAW85638;NP_653171;Q9H910 Hs.513261 1650665;1738857;1853933;1856247;1856249;2166824;2169387;2170026 A006J08;D16S2902;G20864;RH65543;RH77849;SHGC-60756;SHGC-60789;SHGC-64081 C16orf34;FLJ13092;KIAA1426;L11 CRAMP_1 like;HN1 like;HN1-like protein;OTTHUMP00000045527;hematological and neurological expressed 1-like protein protein-coding ENSG00000206053 HGNC:14137 12674 VALIDATED 1603347 HNF1A-AS1 HNF1A antisense RNA 1 INTERACTS WITH aflatoxin B1 12 12 12 q24.31 121043075 121045529 - 121407641 121410095 - 120969838 120972292 - 6480464 14702039;18940312;22001757;24000294 283460 ABBA01020147;AC079602;AK096009;AMYH02027386;CH471054;NR_024345 BAC04671;EAW98225 Hs.612351 5015961;5016478;5020274;5022322;5037552 D11S2560;D15S1477;D8S2279;GDB:434012;L18441 C12orf27;FLJ38690;NCRNA00262 APPROVED ncrna ENSG00000241388 HGNC:26785 VALIDATED 69136 HNF1B HNF1 homeobox B This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 17 q12 32869487 32928989 - 36046434 36105096 - 37686431 37745105 - 1601484;2312750;2312751;2312748;2312749;6480464;6484113;6907045;7240710;8554872;8699517 11317673;15068978;15883474;17971380;19417042 10484768;10720943;11085914;11206404;11242053;11668623;11716293;11845237;11845238;11880302;11918730;12012276;12148114;12161522;12477932;12675839;14583183;14633622;15067324;15111528;15355349;15486044;15489334;15509593;15522234;15647252;15660195;15961790;16249435;16258507;16297991;16443774;16479257;16562587;16676400;1677179;16781669;16793932;16801329;16873704;16971658;17116179;17267738;17327436;17503391;17603485;17878605;17922147;17923767;17924661;17928287;18029348;18037103;18065799;18066692;18212765;18264096;18264097;18332101;18393978;18399756;18418350;18426861;18509286;18536653;18644064;18758462;18794092;18811724;19168595;19228875;19247372;19318432;19320191;19324937;19346182;19361964;19366831;19389850;19423541;19487294;19549807;19627283;19741195;19760597;19767753;19767754;19833888;19866473;19900942;19902474;19913121;19924231;19959718;19998368;20025686;20026053;20075150;20155289;20161779;20203524;20211142;20215779;20378641;20379614;20384434;2044952;20450899;20460480;20526366;20538322;20543213;20571754;20581827;20590552;20628086;20633866;20668890;20676098;20682687;20690139;20712903;20717903;2081590;20878950;20879858;20889853;21071540;21130072;21160077;21163139;21380624;21438902;21496868;21499250;21576123;21743057;21775974;21982019;22034641;22051731;22060211;22114815;22160269;22269832;22299039;22495362;22587559;22591187;22641569;22730461;22747504;22961080;23193118;23203386;23237209;23300827;23535649;23535730;23539225;23704921;23725647;23945395;23979948;24040285;24071869;24119877;24204001;24254850;7900999;9398836;9671480 6928 E0YMJ6;P35680;Q6FHW6 ABBA01001358;ABBA01001359;ABBA01001360;AC091199;AC113211;AC243571;AI797324;AK290131;AK296633;AK298393;BC017714;BT007126;CH471199;CR536572;DC340648;HM116553;HM116554;HM116555;HM116556;NG_013019;NM_000458;NM_001165923;U90287;X58840;X71348 AAC63388;AAH17714;AAP35790;ABM82454;ABW03416;ADM43490;ADM43491;ADM43492;ADM43493;BAF82820;BAG59235;BAG60628;CAA41652;CAB59223;CAG38809;EAW57602;EAW57603;NP_000449;NP_001159395;P35680 Hs.191144 1335005;1661057;1688686;1704728;1722619;2114108;2123950;2189531 D17S1788;D17S1995;G60393;RH76353;SHGC-79644;TCF2;UniSTS:233983;WI-7310 FJHN;HNF-1-beta;HNF-1B;HNF1beta;HNF2;HPC11;LF-B3;LFB3;MODY5;TCF-2;TCF2;VHNF1 HNF1 beta A;OTTHUMP00000164160;hepatocyte nuclear factor 1-beta;homeoprotein LFB3;transcription factor 2;transcription factor 2, hepatic;variant hepatic nuclear factor 1 APPROVED protein-coding ENSG00000275410 HGNC:11630 08926 125853;137920;144700;189907 REVIEWED 7778165 HNF4A-AS1 HNF4A antisense RNA 1 20 20 43006383 43024419 - 44377743 44395706 - 24344320 101927219 ABBA01052639;ABBA01052640;AF143870;AL117382;AMYH02037132;AMYH02037133;AMYH02037134;AMYH02037135;HG511379;NR_109949 Hs.655919 RP5-881L22.4;uc002xlx ncrna ENSG00000229005 HGNC:49505 VALIDATED 1348484 HNF4B hepatocyte nuclear factor 4, beta 8622695 3173 HGNC:5025 737153 HNF1A HNF1 homeobox A The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. [provided by RefSeq, Mar 2009] 12 12 12 q24.2 121051978 121075735 + 121415861 121440315 + 120978058 121002512 + 1601482;1580863;1601479;1601481;2293188;2301829;2301828;2301873;2301863;2301827;6480464;6484113;6907045;7240710;8554872;8699517 15094374;15277395;16752173;17828387;18003757;18332101;18432252;18443232;8945470 10078571;10084598;10102714;10209158;10330009;10333057;10482964;10588527;10649494;10677375;10777539;10779377;10944108;11134330;11162430;11266540;11269503;11440371;11522670;11668618;11772903;11827432;11938027;11978637;11980910;12011060;12012276;12050210;12107263;12107757;12235114;12355088;12378390;12442280;12453420;12453961;12453975;12453976;12477932;12488960;12488961;12488962;12530534;12544512;12547858;12565907;12574234;12605834;12627330;12707037;12712243;12726923;12730871;12743700;12762846;12773136;12788852;12794133;12860991;12934344;14500717;14575719;14583183;14715527;14728801;14747304;14988562;15111528;15194767;15217781;15270800;15300627;15305805;15326484;1535333;15355349;15489334;15520459;15522234;15542842;15569134;15598887;15616580;15660195;15660729;15740590;15830177;15841481;15847654;15899904;15928245;15930087;15961790;15983230;15983330;16046299;16046319;16147992;16186275;16223942;16241915;16249556;16254374;16276364;16297991;16341674;16367885;16442529;16443774;16562587;16632067;16675441;16712787;16714285;16760222;1677179;16781669;16788384;16793932;16873704;16893891;16930618;16963153;17021248;17033837;17037983;17049664;1707031;17116178;17130528;17192490;17194452;17264800;17327436;17353931;17407072;17440016;17440429;17458140;17475670;17569132;17573900;17601994;17638895;17932728;17937063;17965524;18080173;18160415;18172616;18221440;18346225;18391435;18399756;18433021;18433912;18439548;18439552;18440731;18498634;18513302;18513305;18586913;18593771;18671716;18672310;18720549;18777455;18811724;18854284;18940312;19060906;19119252;19150152;19169489;19188435;19198612;19228875;19264593;19280766;19289501;19304666;19336507;19349540;19351817;19357985;19388975;19453261;19490620;19536331;19564454;19567438;19578796;19672314;19687008;19741195;19749792;19782160;19794065;19878569;19913121;19924231;19933992;20018894;20028982;20031592;20069546;20075150;20096102;20106981;20113359;20132997;20133952;20172480;20195357;20393147;20394740;20396999;20416077;2044952;20460578;20546258;20568120;20571754;20581827;20628086;20633866;20634891;20648472;20679960;20682687;20686565;20690076;20705777;20716378;20727736;20738937;20829431;20834067;20863361;20971364;20980261;21047120;21062467;21168233;21170474;21176092;21182953;21195701;21196492;21203500;21208426;21224407;21300955;21348892;21353246;21429061;21437455;21454713;21498636;21573907;21647738;21683639;21747169;21814873;21909109;21975049;21988832;22001757;22010049;22060211;22160269;22290433;22340386;22341299;22357705;22383952;22395466;22413961;22432108;22466651;22474109;22517943;22569176;2263635;22665711;22671145;22788528;22798294;22802087;22849862;22939635;22993150;23009393;23052196;23144326;23183503;23263486;23274891;23348805;23430038;23449499;23517481;23551881;23603156;23607861;23616187;23679181;23707370;23721685;23760703;23803251;23824729;23844046;23878349;23922447;23978712;24097068;24100303;2460858;24821553;24915262;25076298;7795649;7900999;8288579;9032114;9075818;9075819;9092652;9097962;9112026;9133564;9166684;9287053;9287055;9313763;9313764;9392505;9439666;9604876;9621514;9626139;9754819;9792724;9867222 6927 E0YMK3;F5H0K0;F5H3Z5;H0YND5;P20823;U3KQS6 ABBA01020147;ABBA01020148;ABBA01020149;AC079602;AK298422;AMYH02027387;AW294801;BC104908;BC104910;BC143483;BE348240;BM854591;CH471054;EF641294;HM116541;HM116542;HM116543;HM116544;HM116545;HM116546;HM116547;HM116548;HM116549;HM116552;HM116557;HM116558;HM116559;HM116560;HM116561;HM116563;HM449088;HM449089;M57732;NG_011731;NM_000545;U72618;X71346;X71347;XM_005253931 AAA88077;AAC51137;AAI04909;AAI04911;ABR09270;ABZ92189;ADK56177;ADK56178;ADM43481;ADM43482;ADM43483;ADM43484;ADM43485;ADM43486;ADM43487;ADM43488;ADM43489;ADM43494;ADM43495;ADM43496;ADM43497;ADM43498;BAG60646;CAB59201;EAW98226;EAW98227;EAW98228;NP_000536;P20823;XP_005253988 Hs.654455 1791147;1852510;2172121;5022578 D12S2088;D1S1423;G15717;TCF1 HNF-1A;HNF1;IDDM20;LFB1;MODY3;TCF-1;TCF1 HNF-1-alpha;HNF1A homeobox A delta 2;HNF1A homeobox A insIVS8;LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor;OTTHUMP00000198944;OTTHUMP00000198945;OTTHUMP00000240200;OTTHUMP00000240204;OTTHUMP00000240206;albumin proximal factor;hepatic nuclear factor 1;hepatocyte nuclear factor 1-alpha;interferon production regulator factor;liver-specific transcription factor LF-B1;transcription factor 1;transcription factor 1, hepatic 1643461;2289480;2316666;2316668 BW105_H;GLUCO244_H;GLUCO252_H;SLEP16_H APPROVED protein-coding ENSG00000135100 HGNC:11621 00800 125853;142330;142410;144700;222100;600496;612520 REVIEWED 3028810 HNF4GP1 hepatocyte nuclear factor 4, gamma pseudogene 1 13 13 13 q21.1 37557790 37561751 - 56570623 56574584 - 55996489 56000450 - 18065488 100130462 ABBA01037032;AL138997;AL590304;AMYH02028081;NG_016594 1337518;1696756;2113368;2146500;2172482 CHLC.GATA42A09;D13S1327;D13S1746;D13S321;SHGC-77939 pseudo HGNC:35417 INFERRED 69093 HNF4A hepatocyte nuclear factor 4, alpha The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012] 20 20 20 q13.12 39693092 39768681 + 42984441 43061485 + 44355801 44432845 + 1601642;1601637;1580863;2301837;2301838;2301839;2301863;2301836;6480464;6484113;6907045;7240710;8554872;8699517 16804065;18028455;18184923;18268044;18332101;18728231;8945471 10085149;10330009;10551874;10594021;10609119;10652338;10737800;10786636;10882110;10995777;11229886;11549316;11590126;11717395;11733490;11741883;11772903;11780052;11811951;11818510;11834723;11916906;11994285;12036449;12050210;12083813;12086970;12089346;12101254;12110948;12133007;12203996;12205093;12220494;12235114;12413008;12477932;12504020;12519792;12522137;12544512;12551987;12627330;12631740;12669197;12697672;12701690;12740371;12829997;12855700;12911579;12944908;14551916;14563941;14654354;14702039;14722127;14988562;15047632;15047633;15123688;15194767;15281001;15322103;15337761;15342556;15358161;15470081;15504983;15519277;15520459;15547294;15561969;15604093;15616580;15651981;15660729;15728204;15734869;15735891;15735892;15744310;15752752;15793260;15794920;15796896;15826954;15830177;15831710;15919766;15928245;15933212;15983230;16007190;16051671;16186411;16223942;16338932;16488887;16502298;16523192;16562587;16584384;16644680;16712791;16731855;16731861;16752173;16771709;16838170;16873704;16882880;16883527;16893891;16929032;16936201;16946562;16955255;16978381;16980607;17007050;17022998;17052457;17259399;17264800;17291450;17300672;17317687;17327436;17343826;17344191;17353931;17393984;17403900;17407387;17464991;17466274;17563455;17574576;17576804;17601994;17636037;17764444;17785436;17805472;17827402;17827783;17876342;17885207;17891372;17894829;17895379;17920062;17923767;17932483;17958743;17965524;17991764;17992261;18029348;18056193;18162503;18163890;18199540;18234786;18305369;18305375;18346225;18356407;18391435;18395097;18426912;18498634;18513187;18513302;18552123;18561282;18602983;18654034;18660489;18666237;18765665;18805788;18811724;18829458;18844932;18988528;1899928;19048623;19060906;19115260;19147806;19154258;19179483;19188435;19228875;19228884;19302415;19336534;19353766;19389810;19406499;19435525;19454287;19467232;19549071;19563409;19575803;19578796;19651776;19740748;19748811;19761587;19805548;19846556;19913121;19915572;19924231;19934400;19948975;19966299;20003313;20079163;20086032;20158877;20164212;20167659;20211142;20301549;20308432;20361036;20371703;20375098;20379614;20384434;20463007;20516075;20546279;20558840;20576917;20622021;20628086;20670916;20682687;20684663;20686565;20705777;20714348;20735474;20863361;20871093;20878384;20926756;20931292;20976847;21047794;21062274;21062980;21292004;21300955;21352552;21384409;21442235;21493011;21494118;21618351;21633728;21646355;21683639;21708125;21725089;21733563;21744425;21760481;21799848;21814221;21831733;21852396;21874001;21922456;21983932;21988832;22009745;22060211;22068426;22140441;22153071;22155889;22158537;22197810;22240483;22282358;22308320;22333269;22357705;22383578;22432108;22505616;22628013;22791717;22802087;22902540;22914433;22939635;22952853;22960426;23038264;23052196;23108025;23128233;23268925;23292115;23307400;23348805;23354620;23551881;23628799;23652628;23775631;23803251;23874642;23878349;24059685;24097068;24101726;24177414;24384557;24399729;24448600;24711169;24713057;24828613;7568236;7615825;7651430;7926813;8622695;8964514;9048927;9115274;9243109;9267996;9294105;9313765;9371825;9434765;9449683;9717844;9792714;9792724;9795230;9812974 3172 B9VVT8;F1D8S2;F1D8T0;F1D8T1;F8WBS7;P41235 AB307703;ABBA01052639;ABBA01052640;ABBA01052641;ABBA01052642;AF509467;AK096973;AL117382;AL132772;AMYH02037131;AMYH02037132;AMYH02037133;AMYH02037134;AMYH02037135;AW134564;AW935533;AY680696;AY680697;AY680698;BC137539;BC137540;BP274413;CB163637;CH471077;EF591040;FJ608822;HQ692860;HQ692868;HQ692869;NG_009818;NM_000457;NM_001030003;NM_001030004;NM_001258355;NM_001287182;NM_001287183;NM_001287184;NM_175914;NM_178849;NM_178850;U72967;U72969;X76930;X87870;X87871;X87872;XM_005260407;Z49825 AAB48082;AAB48083;AAI37540;AAI37541;AAM34296;AAT91237;AAT91238;AAT91239;ABQ52204;ACM50922;ADZ17371;ADZ17379;ADZ17380;BAH02294;CAA54248;CAA61133;CAA61134;CAA61135;CAA89989;EAW75921;EAW75922;EAW75923;EAW75924;EAW75925;NP_000448;NP_001025174;NP_001025175;NP_001245284;NP_001274111;NP_001274112;NP_001274113;NP_787110;NP_849180;NP_849181;P41235;XP_005260464 Hs.116462 1643976;1657698;1681476;1792438;1795156;2136464;2167382;2168678;2175964;5117230;5494206 D20S1127;GDB:451872;Hnf4;PMC151122P1;PMC99906P2;RH45568;RH66101;RH66546;RH69732;RH76001;SHGC-33922 FLJ39654;FRTS4;HNF-4-alpha;HNF4;HNF4a7;HNF4a8;HNF4a9;HNF4alpha;HNF4alpha10/11/12;MODY;MODY1;NR2A1;NR2A21;TCF;TCF-14;TCF14 OTTHUMP00000031059;OTTHUMP00000031060;OTTHUMP00000031062;hepatic nuclear factor 4 alpha;hepatocyte nuclear factor 4 4 alpha variant 1;hepatocyte nuclear factor 4 4 alpha variant 2;hepatocyte nuclear factor 4 4 alpha variant 4;hepatocyte nuclear factor 4-alpha;nuclear receptor subfamily 2 group A member 1;transcription factor 14;transcription factor HNF-4;transcription factor-14 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;2289429;2289431;2316342 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;GLUCO236_H APPROVED protein-coding ENSG00000101076 HGNC:5024 02612 125850;125853;600281;616026 REVIEWED 1320814 HNF4G hepatocyte nuclear factor 4, gamma ENCODES a protein that exhibits ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (inferred); sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN endocrine pancreas development (inferred); gene expression (inferred); intracellular receptor signaling pathway (inferred); PARTICIPATES IN maturity onset diabetes of the young pathway; FOUND IN nucleoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 7,9-dihydro-1H-purine-2,6,8(3H)-trione; 8-bromo-3',5'-cyclic AMP 8 8 8 q21.11 72447027 72473891 + 76452203 76479069 + 75539968 75566843 + 1580863;6480464;6907045 10512380;12220494;12477932;12544512;15604093;16421571;17684544;18029348;20211142;20935630;21047794;23263486;23535729;23563607;23975195;8622695 3174 F1D8Q4;Q14541 AB307704;ABBA01041994;AC040917;AF133504;AK025222;AMYH02018246;BC054009;BC105009;BC105011;BX571750;CH471068;CR542091;HQ692842;NM_004133;XM_006716446;Z49826 AAF00110;AAH54009;AAI05010;AAI05012;ACE87623;ADZ17353;BAH02295;CAA89990;CAE11875;CAG46888;EAW87040;EAW87041;NP_004124;Q14541;XP_006716509 Hs.241529 2184586 STS-Z49826 NR2A2;NR2A3 HNF-4-gamma;OTTHUMP00000195118;OTTHUMP00000195119;hepatocyte nuclear factor 4-gamma;nuclear receptor subfamily 2 group A member 2 protein-coding ENSG00000164749 HGNC:5026 06909 605966 VALIDATED 1318867 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind RNAs, followed by a glycine-rich C-terminus. [provided by RefSeq, Jul 2008] 5 5 5 q31 133208508 133211474 - 137087073 137090039 - 137751384 137754350 - 1580863;6480464 11161817;12226669;12456657;12477932;12565831;15489334;15592455;15635413;15782174;1602151;16169070;16196087;17215244;17314511;17620599;17643375;18029348;18457437;18816836;19165527;19322201;19471022;19738201;20020773;20360068;20932473;21110914;21139048;21145461;21182205;21890473;21900206;21906983;21963094;22365833;22412018;22505724;22623428;22863883;22939629;23000965;23125841;23151878;23184937;23277564;23402259;24332808;24457600;24816145;25027693;7585247;8012384;8325628;8889548;8889549 10949 Q13151 AA081021;AA442538;ABBA01068704;AC106791;AMYH02012276;BC001008;BC007271;BC009284;BC011972;BC012490;BC012980;BC018800;BC018949;BC019271;BC028976;BC030249;BF445078;BM968394;CH471062;CR456986;HB887001;HC944410;L10372;NM_006805;U23803;Z61116 AAA65094;AAH01008;AAH07271;AAH09284;AAH11972;AAH12980;AAH18949;AAH19271;AAH28976;AAH30249;CAG33267;CBF67657;CBU92531;EAW62182;NP_006796;Q13151 Hs.645902;Hs.96996 1650485;1670084;1671508;1743185;2139842;2139844;2218780;5021308 A006F37;AA858784;D5F121S1;G20772;HNRPA0_2045;RH12646;RH70163;RH79130 HNRPA0 OTTHUMP00000159432;hnRNA binding protein;hnRNP A0 APPROVED protein-coding HGNC:5030 17112 609409 REVIEWED 733644 HNMT histamine N-methyltransferase In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q22.1 132435248 132487397 + 138721808 138773934 + 137964238 138016364 + 1580863;1300048;1359041;5128889;5128885;5128887;5128888;5128881;5128883;5128884;5509773;5509779;5509771;5509772;5509775;5509774;5509777;5509778;5509780;5509776;6480464;6907045;7240710;8554872 10803682;10898922;11566133;11880199;15693910;16205835;16330002;17651147;17985251;18340362;18543121;19025430;19773194;20608921;21040557;21106039;21131122;21138759 12167489;12358773;12417108;12477932;12755416;12835614;12867290;14667820;15489334;15551002;15770103;15815621;15953854;16489678;16554448;16669609;16950574;17703412;18029348;18086566;18154359;18254975;18266724;19056867;19156168;19178400;19247692;19258923;19343046;19538200;19898482;20237496;20379614;20503287;20551163;20602615;21044950;21794955;21988832;22939629;23932992;7943261;8145732;8605025;9547362 3176 B4DWC1;P50135;Q9P1Y0 AA935821;AB041388;ABBA01028130;ABBA01028131;AC093674;AF523356;AF523357;AF523358;AF523359;AF523360;AK301462;AK313804;AMYH02004872;BC005907;BC020677;CH471058;D16224;NG_012966;NM_001024074;NM_001024075;NM_006895;U08092;U44111;XM_005263654 AAA17423;AAB18137;AAH05907;AAH20677;AAN33014;AAN33015;AAN33016;AAN33017;AAN33018;AAY24212;ABM82092;ABM85274;BAA03752;BAA94473;BAG36540;BAG62983;EAX11612;EAX11613;EAX11614;NP_001019245;NP_001019246;NP_008826;P50135;XP_005263711 Hs.42151 1649206;1670347;1679850;2158506;2169633 D2S2054;RH68885;RH70639;RH80835;STS-AA036662 HMT;HNMT-S1;HNMT-S2 OTTHUMP00000162547;OTTHUMP00000204203;OTTHUMP00000204204;OTTHUMP00000214277;OTTHUMP00000214278 APPROVED protein-coding ENSG00000150540 HGNC:5028 05575 600807;605238 REVIEWED 1351717 HNRNPA1P1 heterogeneous nuclear ribonucleoprotein A1 pseudogene 1 6 6 6 p22.1 29097262 29098352 + 27491226 27492316 + 27523447 27524537 + 645950 ABBA01037998;AL021918;AMYH02013382;NG_008821 HNRPA1P1;b34I8.2;hnRNPA1-Lp pseudo HGNC:13957 INFERRED 1605285 HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1-like 2 ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); INVOLVED IN alternative mRNA splicing, via spliceosome (inferred); mRNA transport (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN cytoplasm (inferred); spliceosomal complex (inferred); INTERACTS WITH cadmium atom; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 13 13 13 q14.3 34177478 34203792 + 53173750 53217931 + 52617470 52643784 + 6480464;6907045 12477932;14702039;20360068;21182205;21890473;21906983;21963094;22053931;22505724;22536838;22810585;22939629;23000965;25015289 144983 Q32P51 ABBA01037066;AK091082;AK094423;AK123081;AK123159;AK126454;AL137058;AMYH02028047;AMYH02028048;BC082242;BC108266;BQ425201;BX477483;CD523364;CH471124;NM_001011724;NM_001011725 AAI08267;EAW52040;EAW52041;EAW52042;NP_001011724;NP_001011725;Q32P51 Hs.447506 1646812;1702606;2151435 A008Q48;D13S750;DXS8003 MGC102957 OTTHUMP00000018460;hnRNP A1-like 2;hnRNP core protein A1-like 2 protein-coding HGNC:27067 17300 VALIDATED 4145402 HNRNPA1P10 heterogeneous nuclear ribonucleoprotein A1 pseudogene 10 16 19 19 p13.2 36194645 36196002 + 11776551 11777904 - 11665736 11667089 - 15514164;21906983;2836799 664709 ABBA01029828;AC008543;AMYH02035536;EC496431;NR_002944 Hs.534822 HNRPA1L-2 pseudo HGNC:39128 PROVISIONAL 1348965 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is one of the most abundant core proteins of hnRNP complexes and it is localized to the nucleoplasm. This protein, along with other hnRNP proteins, is exported from the nucleus, probably bound to mRNA, and is immediately re-imported. Its M9 domain acts as both a nuclear localization and nuclear export signal. The encoded protein is involved in the packaging of pre-mRNA into hnRNP particles, transport of poly A+ mRNA from the nucleus to the cytoplasm, and may modulate splice site selection. It is also thought have a primary role in the formation of specific myometrial protein species in parturition. Multiple alternatively spliced transcript variants have been found for this gene but only two transcripts are fully described. These variants have multiple alternative transcription initiation sites and multiple polyA sites. [provided by RefSeq, Jul 2008] 12 12 12 q13.1 54326467 54331009 + 54674480 54680871 + 54280696 54287087 + 1580863;6480464;6907045;8554872 10212141;10323862;10383403;10772858;10843177;10913197;11003644;11313474;11546873;11779509;11790298;11825891;11884611;11893730;11991638;12060656;12212851;12226669;12419255;12458794;12477932;12565831;12612063;12665590;12777385;12799433;12927788;12945950;14559993;14611647;14633690;14645369;14667819;14690413;14703516;14704337;14729942;15047060;15161933;15161980;15208309;15210956;15231747;15342234;15489334;15492215;15525641;15592455;15604093;15635413;15671034;15703079;15703818;15782174;15848144;15861128;16000324;16097034;16159877;16169070;16177791;16196087;16230076;16449650;16600502;16603717;1691095;16916647;16990281;17081983;17110431;17229681;17264152;17287399;17289661;17332742;1733858;17353911;17558416;17611602;17620599;17643375;17803295;17884807;17898077;17950949;18029348;18391021;18457437;18483487;18562319;18809582;18846111;18850631;19004954;19101556;19135240;19282454;19322201;19339352;19349988;19430204;19596686;19667073;19710015;19715280;19737937;19738201;19808671;19913121;19926721;19928837;19946888;20000738;20010808;20020773;20133837;20301623;20628086;20639865;20639884;20716340;20872967;20974848;20978194;21081666;21110914;21120954;21139048;21145461;21182205;21319273;21398516;21399625;21424008;21454539;21548758;21627027;21642987;2176620;21832049;21853274;21858080;21890473;21906983;21942715;21963094;21987572;21988832;22053931;22079093;22132154;22174317;22178446;22187150;22227431;22268729;22285803;22325350;22365833;22412018;22446626;22505724;22536838;22623428;22628224;22751105;22810585;22821376;22863883;22939629;22944692;22983828;22990118;23000965;23035981;23106379;23125841;23184937;23383273;23394998;23398456;23430061;23438482;23443559;23455423;23463506;23602568;23658645;23825951;23827524;23985572;24001602;24119545;24244333;24250222;24332808;24337577;24457600;24530421;24583282;24591637;24628426;24690621;24720748;24816145;24831962;25009770;25015289;2760922;2836799;3023065;7505766;7730395;7769000;8288564;8473331;8521471;8663146;8883365;8889548;9115444;9144189;9164463;9731529;9891755;9925777 3178 F8VTQ5;F8VYN5;F8VZ49;F8W646;F8W6I7;H0YH80;P09651 ABBA01008369;AC078778;AK129814;AK291113;AK298176;AK303303;AK308679;AMYH02026534;BC002355;BC004945;BC009600;BC012158;BC020442;BC033714;BC035253;BC052296;BC070315;BC071945;BC073162;BC074502;BC078165;BC103707;BC104236;BC104237;BC121133;BQ277208;BU501222;BX425482;CD705336;CF541085;CH471054;NG_033830;NM_002136;NM_031157;U00947;X04347;X06747;X12671;X79536;XM_005268826;XR_245923;XR_245924 AAH02355;AAH04945;AAH09600;AAH12158;AAH33714;AAH52296;AAH70315;AAH71945;AAH73162;AAH74502;AAI03708;AAI04237;AAI04238;AAI21134;BAF83802;BAG60447;BAG64377;CAA27874;CAA29922;CAA31191;CAA56072;EAW96761;EAW96762;EAW96763;EAW96764;EAW96765;EAW96766;EAW96767;EAW96768;EAW96769;EAW96770;NP_002127;NP_112420;P09651;XP_005268883 Hs.546261;Hs.655424 2169287;5113455 D12S1994;SHGC-2501 ALS19;ALS20;HNRPA1;HNRPA1L3;IBMPFD3;MGC102835;hnRNP A1;hnRNP-A1 OTTHUMP00000241883;OTTHUMP00000241884;OTTHUMP00000241885;OTTHUMP00000241886;OTTHUMP00000241887;OTTHUMP00000241888;OTTHUMP00000241889;OTTHUMP00000241890;OTTHUMP00000241891;Putative heterogeneous nuclear ribonucleoprotein A1-like 3;helix-destabilizing protein;heterogeneous nuclear ribonucleoprotein A1B protein;heterogeneous nuclear ribonucleoprotein B2 protein;heterogeneous nuclear ribonucleoprotein core protein A1;hnRNP A1-like 3;hnRNP core protein A1;hnRNP core protein A1-like 3;nuclear ribonucleoprotein particle A1 protein;single-strand DNA-binding protein UP1;single-strand RNA-binding protein APPROVED protein-coding ENSG00000135486 HGNC:5031 01242 164017;615424;615426 REVIEWED 4145433 HNRNPA1P12 heterogeneous nuclear ribonucleoprotein A1 pseudogene 12 5 5 5 q14.1 75556218 75557178 - 79654899 79655859 - 80359080 80360040 - 644037 ABBA01062037;AC026410;AMYH02011663;NG_021856 pseudo HGNC:39130 INFERRED 4145503 HNRNPA1P11 heterogeneous nuclear ribonucleoprotein A1 pseudogene 11 18 18 18 q22.3 67137329 67138282 + 70285502 70286455 + 72618267 72619220 + 100128044 ABBA01056309;AC011208;AMYH02034975;NG_022497 pseudo HGNC:39129 INFERRED 5490923 HNRNPA1P14 heterogeneous nuclear ribonucleoprotein A1 pseudogene 14 9 9 9 61601678 61602609 - 91025447 91026378 - 88410532 88411463 - 100421351 ABBA01016517;AL353748;AMYH02021178;NG_023844 pseudo HGNC:39132 INFERRED 5490921 HNRNPA1P15 heterogeneous nuclear ribonucleoprotein A1 pseudogene 15 9 9 9 99007074 99008026 + 128357952 128358904 + 125595673 125596625 + 100421353 ABBA01043789;AL162584;AMYH02021651;NG_023957 pseudo HGNC:39133 INFERRED 5490922 HNRNPA1P17 heterogeneous nuclear ribonucleoprotein A1 pseudogene 17 3 3 3 106440985 106442291 - 108044355 108045661 - 108325508 108326814 - 100421376 ABBA01061705;AC078855;AMYH02007395;NG_025606 pseudo HGNC:39135 INFERRED 6480993 HNRNPA1P18 heterogeneous nuclear ribonucleoprotein A1 pseudogene 18 13 13 68875737 68877434 - 68301605 68303302 - 100874400 ABBA01050294;AL356954;AMYH02028207;NG_032303 pseudo HGNC:39445 INFERRED 4145401 HNRNPA1P13 heterogeneous nuclear ribonucleoprotein A1 pseudogene 13 5 5 5 q31.1 131889334 131890296 + 135764581 135765543 + 136428892 136429854 + 19240791 100131130 ABBA01068716;AC112178;AMYH02012264;NG_021898 pseudo HGNC:39131 INFERRED 6480994 HNRNPA1P19 heterogeneous nuclear ribonucleoprotein A1 pseudogene 19 17 17 20674379 20674736 - 20771066 20771423 - 100874402 ABBA01050451;AC126365;AMYH02033191;NG_032318 pseudo HGNC:39537 INFERRED 4145505 HNRNPA1P16 heterogeneous nuclear ribonucleoprotein A1 pseudogene 16 17 17 17 p13.3 2226165 2227456 + 2210049 2211340 + 2306755 2308046 + 12477932 440396 ABBA01054700;AL450226;AMYH02032772;NG_009621;NG_033980 pseudo HGNC:39134 INFERRED 1345278 HNRNPA1P2 heterogeneous nuclear ribonucleoprotein A1 pseudogene 2 6 6 6 p21.32 33860286 33861409 + 32293175 32294298 + 32325398 32326521 + 100131609 ABBA01038109;AL671511;AL845557;AMYH02013470;BX001039;BX119999;BX927180;CR751604;CR759773;CT009614;NG_008818 HNRPA1P2;dJ372B18.1 pseudo HGNC:13958 INFERRED 5013863 HNRNPA1P21 heterogeneous nuclear ribonucleoprotein A1 pseudogene 21 3 3 3 p22.2 39318064 39318955 + 39376477 39377368 + 39334986 39335877 + 12551893 344697 ABBA01024806;AC104850;AMYH02006586;NG_002728 1795500;2113716 CCR8;CCR8_521 HNRNPA1P pseudo HGNC:39539 INFERRED 5013927 HNRNPA1P22 heterogeneous nuclear ribonucleoprotein A1 pseudogene 22 3 3 3 p22.1 42868762 42869704 + 42930853 42931795 + 42889361 42890303 + 729102 ABBA01024762;AC099329;AMYH02006630;NG_022249 pseudo HGNC:39540 INFERRED 5013936 HNRNPA1P20 heterogeneous nuclear ribonucleoprotein A1 pseudogene 20 3 3 3 q24 146298285 146299242 - 147884126 147885083 - 148166339 148167296 - 344741 ABBA01058956;AC025566;AMYH02007871;NG_022223 pseudo HGNC:39538 INFERRED 6480983 HNRNPA1P24 heterogeneous nuclear ribonucleoprotein A1 pseudogene 24 3 3 149717432 149718477 + 149999645 150000690 + 100874396 ABBA01058936;AC117395;AMYH02007887;NG_032319 pseudo HGNC:39542 INFERRED 5013923 HNRNPA1P23 heterogeneous nuclear ribonucleoprotein A1 pseudogene 23 3 3 3 q21.1 120446089 120447083 + 122036456 122037450 + 122317609 122318603 + 100130002 ABBA01016471;AC083798;AMYH02007537;NG_022268 pseudo HGNC:39541 INFERRED 5013925 HNRNPA1P26 heterogeneous nuclear ribonucleoprotein A1 pseudogene 26 X X X q22 100629182 100630159 - 100109564 100111430 - 100854575 100856441 - 664722 ABBA01064124;AMYH02040060;DQ314883;NG_005517;NG_012567;Z83819 HNRPA1P6 pseudo HGNC:39544 INFERRED 5013922 HNRNPA1P25 heterogeneous nuclear ribonucleoprotein A1 pseudogene 25 X X X q13.2 73976428 73977360 - 73692506 73693852 - 74472671 74474017 - 100131983 ABBA01059555;AC004073;AMYH02039781;NG_011641;NG_028960 1702004;1702072 DXS128;GDB:600880 pseudo HGNC:39543 INFERRED 5013877 HNRNPA1P29 heterogeneous nuclear ribonucleoprotein A1 pseudogene 29 13 13 13 74895636 74896493 - 94047229 94048086 - 93394976 93395833 - 100421424 ABBA01027222;AL450425;AMYH02028493;NG_024875 pseudo HGNC:39547 INFERRED 5013875 HNRNPA1P27 heterogeneous nuclear ribonucleoprotein A1 pseudogene 27 X X X q22 100661704 100662403 - 100142918 100143617 - 100887929 100888628 - 12477932 664721 ABBA01064123;AMYH02040060;BC045662;NG_005516;Z83819 Hs.464869 5020946;5038296 L17971;REN98749 HNRPA1P5 pseudo HGNC:39545 INFERRED 1354354 HNRNPA1P3 heterogeneous nuclear ribonucleoprotein A1 pseudogene 3 20 20 20 q13.12 41084775 41085435 - 44374198 44374859 - 45745559 45746220 - 170524 ABBA01052665;AL050348;AMYH02037153;NG_001041 HNRPA1P3;dJ447F3.1 pseudo HGNC:16567 INFERRED 5013920 HNRNPA1P28 heterogeneous nuclear ribonucleoprotein A1 pseudogene 28 X X X q24 118809487 118810446 + 118354745 118355704 + 119220782 119221741 + 100288038 ABBA01036708;AC004835;AMYH02040326;NG_022695 2055174 REN98751 pseudo HGNC:39546 INFERRED 5013876 HNRNPA1P31 heterogeneous nuclear ribonucleoprotein A1 pseudogene 31 13 13 13 q31.1 62094908 62095989 - 81192905 81194261 - 80618770 80620126 - 100506925 ABBA01021706;AL390857;AMYH02028357;NG_028977 FLJ31359 pseudo HGNC:39549 INFERRED 7205018 HNRNPA1P32 heterogeneous nuclear ribonucleoprotein A1 pseudogene 32 10 10 10 p11.23 30571478 30572728 - 30806783 30807790 - 30517854 30518861 - 645940 ABBA01034342;AL161651;AMYH02022560;NG_030272 pseudo HGNC:44958 INFERRED 7205520 HNRNPA1P33 heterogeneous nuclear ribonucleoprotein A1 pseudogene 33 12 10 10 q11.22 54328032 54330346 + 47133295 47133836 - 46415915 46416456 + 12477932;2836799 728643 ABBA01005368;AC244230;AL390716;BC061889;BC112995;BC128038;NR_003277 Hs.711067 pseudo ENSG00000213412 HGNC:44990 PROVISIONAL 7246621 HNRNPA1P35 heterogeneous nuclear ribonucleoprotein A1 pseudogene 35 2 2 2 q33.1 195682443 195683402 + 201927749 201928971 + 201063026 201064248 + 645691 ABBA01062530;AC007272;AMYH02005545;NG_021599 pseudo HGNC:48764 INFERRED 7246864 HNRNPA1P36 heterogeneous nuclear ribonucleoprotein A1 pseudogene 36 8 8 8 q21.13 78724599 78725560 + 82719935 82721165 + 81807700 81808930 + 100128836 ABBA01004050;AC132219;AMYH02018316;NG_030276 pseudo HGNC:48765 INFERRED 5013931 HNRNPA1P30 heterogeneous nuclear ribonucleoprotein A1 pseudogene 30 13 13 13 q12.11 2584033 2585752 - 21522085 21523798 - 20947946 20949659 - 440125 ABBA01068594;AL356285;AMYH02027650;NG_011345 pseudo HGNC:39548 INFERRED 7246715 HNRNPA1P34 heterogeneous nuclear ribonucleoprotein A1 pseudogene 34 12 12 9180072 9181766 - 9027476 9029172 - 100996501 ABBA01012257;AC007436;AMYH02025997 pseudo HGNC:48763 MODEL 7246847 HNRNPA1P38 heterogeneous nuclear ribonucleoprotein A1pseudogene 38 8 8 8 138632550 138633503 + 142469117 142470328 + 141459017 141460228 + 100421384 ABBA01013690;AC100803;AMYH02018905;NG_026136 pseudo HGNC:48767 INFERRED 7246229 HNRNPA1P39 heterogeneous nuclear ribonucleoprotein A1 pseudogene 39 2 2 2 q31.1 168788259 168789215 - 175174546 175175751 - 174309818 174311023 - 402112 ABBA01062187;AC018470;AMYH02005269;NG_021539 pseudo HGNC:48768 INFERRED 1602034 HNRNPA1P4 heterogeneous nuclear ribonucleoprotein A1 pseudogene 4 8 8 8 q21.13 79207735 79209217 - 83203143 83204626 - 82290908 82292391 - 389674 ABBA01004044;AC022260;AC060765;AC069359;AMYH02018323;NG_005789 HNRPA1P4 APPROVED pseudo HGNC:32234 INFERRED 7246800 HNRNPA1P40 heterogeneous nuclear ribonucleoprotein A1 pseudogene 40 11 11 11 q13.4 71372335 71373160 + 74065488 74066313 + 74354443 74355268 + 100129920 ABBA01017492;AP001085;NG_021823 pseudo HGNC:48769 INFERRED 7246246 HNRNPA1P41 heterogeneous nuclear ribonucleoprotein A1 pseudogene 41 9 9 9 p24.1 4869962 4871577 - 4944346 4945962 - 4944346 4945962 - 100128701 ABBA01065418;AL158147;AMYH02019081;NG_009758 pseudo HGNC:48770 VALIDATED 7246467 HNRNPA1P42 heterogeneous nuclear ribonucleoprotein A1 pseudogene 42 1 1 1 q43 214339713 214340669 + 241082929 241084109 + 240919629 240920809 + 100287266 ABBA01033243;AL590682;AMYH02003030;NG_022832 pseudo HGNC:48771 INFERRED 7246351 HNRNPA1P37 heterogeneous nuclear ribonucleoprotein A1 pseudogene 37 6 6 6 6836579 6837547 - 5609263 5610515 - 5609030 5610282 - 100421379 ABBA01022009;AL022097;AMYH02013038;NG_025781;NG_033003 pseudo HGNC:48766 INFERRED 7246798 HNRNPA1P44 heterogeneous nuclear ribonucleoprotein A1 pseudogene 44 15 15 15 42986400 42987642 - 66108400 66109896 - 65816062 65817558 - 100421432 ABBA01038838;AC084854;AMYH02030635;NG_025327 pseudo HGNC:48774 INFERRED 7246760 HNRNPA1P45 heterogeneous nuclear ribonucleoprotein A1 pseudogene 45 15 15 15 q14 12452183 12453158 + 35692892 35693867 + 35400691 35401666 + 100130660 ABBA01038504;AC019288;AMYH02030189;NG_022125 pseudo HGNC:48775 INFERRED 7246352 HNRNPA1P46 heterogeneous nuclear ribonucleoprotein A1 pseudogene 46 1 1 1 164223741 164224679 - 191114953 191116151 - 191145823 191147021 - 100421399 ABBA01027658;AL713866;AMYH02002363;NG_027029 pseudo HGNC:48776 INFERRED 7246750 HNRNPA1P47 heterogeneous nuclear ribonucleoprotein A1 pseudogene 47 2 2 2 q32.3 188639139 188640069 + 195052022 195053233 + 194187298 194188509 + 100287191 ABBA01062428;AC068129;AMYH02005484;NG_021596 pseudo HGNC:48777 INFERRED 7246759 HNRNPA1P43 heterogeneous nuclear ribonucleoprotein A1 pseudogene 43 1 1 1 p13.1 114628333 114629241 - 116399332 116400499 - 115856711 115857878 - 400769 ABBA01068480;AL449264;AMYH02001790;NG_022734 pseudo HGNC:48772 INFERRED 7246619 HNRNPA1P48 heterogeneous nuclear ribonucleoprotein A1 pseudogene 48 16 16 16 q12.1 36194642 36196001 + 51679667 51681027 + 51645756 51647116 + 2836799 642659 ABBA01066464;AC084058;AMYH02032025;NG_005530 pseudo HGNC:48778 INFERRED 7246409 HNRNPA1P51 heterogeneous nuclear ribonucleoprotein A1 pseudogene 51 2 2 2 q33.3 201045456 201046402 - 207283816 207285055 - 206419092 206420331 - 729366 ABBA01062661;AC017081;AMYH02005628;NG_021550 pseudo HGNC:48781 INFERRED 7246761 HNRNPA1P52 heterogeneous nuclear ribonucleoprotein A1 pseudogene 52 19 19 19 q13.2 39133412 39134681 + 42333663 42335188 + 41829609 41831134 + 645001 ABBA01040813;AC020956;AC243967;NG_030273 pseudo HGNC:48782 INFERRED 7246538 HNRNPA1P53 heterogeneous nuclear ribonucleoprotein A1 pseudogene 53 11 11 11 p15.4 5711100 5712042 - 5592280 5593483 - 5571050 5572253 - 728732 ABBA01028652;AC015691;AMYH02024258;NG_021771 pseudo HGNC:48783 INFERRED 7246122 HNRNPA1P50 heterogeneous nuclear ribonucleoprotein A1 pseudogene 50 12 12 12 q22 92948641 92949568 + 93277468 93278676 + 92883692 92884900 + 728170 ABBA01053391;AC026111;AMYH02026933;NG_021730 pseudo HGNC:48780 INFERRED 7246802 HNRNPA1P54 heterogeneous nuclear ribonucleoprotein A1 pseudogene 54 1 1 1 152533718 152534731 - 179425255 179426533 - 179456120 179457398 - 100421398 ABBA01027813;AL451075;AMYH02002235;NG_027023;NG_033075 pseudo HGNC:48784 INFERRED 7246859 HNRNPA1P56 heterogeneous nuclear ribonucleoprotein A1 pseudogene 56 4 4 4 q21.21 76209955 76210905 - 78908817 78910028 - 77987663 77988874 - 391670 ABBA01063376;AC114801;AMYH02009532;NG_022016 pseudo HGNC:48786 INFERRED 7246749 HNRNPA1P55 heterogeneous nuclear ribonucleoprotein A1 pseudogene 55 4 4 4 q13.3 72164479 72165433 - 74804124 74805346 - 73938407 73939629 - 642958 ABBA01022994;AC097709;AMYH02009472;NG_022013 pseudo HGNC:48785 INFERRED 4891179 HNRNPA1P5 heterogeneous nuclear ribonucleoprotein A1 pseudogene 5 15 15 q23 67920106 67921807 + 67627768 67629469 + 100506712 ABBA01038795;AC103753;AMYH02030670;NG_028964;NG_029143 pseudo HGNC:15787 INFERRED 7246622 HNRNPA1P58 heterogeneous nuclear ribonucleoprotein A1 pseudogene 58 6 6 6 p22.3 25234799 25235401 + 24002052 24002654 + 24001824 24002426 + 100289286 ABBA01022314;AL032822;AL445196;AMYH02013316;NG_022348 pseudo HGNC:48788 INFERRED 7375474 HNRNPA1P57 heterogeneous nuclear ribonucleoprotein A1 pseudogene 57 2 2 41383705 41384755 + 41156565 41157615 + 101060039 ABBA01075047;AC009223;AMYH02003656 pseudo HGNC:48787 MODEL 7246540 HNRNPA1P59 heterogeneous nuclear ribonucleoprotein A1 pseudogene 59 1 1 1 q32.1 176010182 176011098 + 202880879 202882056 + 202911751 202912928 + 730246 ABBA01027493;AC096632;AMYH02002505;NG_022824 pseudo HGNC:48789 INFERRED 1350329 HNRNPA1P6 heterogeneous nuclear ribonucleoprotein A1 pseudogene 6 1 1 1 p32.2 56798563 56800087 - 58513521 58515045 - 58047849 58049373 - 12477932;1733858 729423 ABBA01074667;AL445193;AMYH02001091;BC121134;NG_009623 Hs.657333 2137899 G16323 HNRNPA1L;HNRNPA1L1;HNRPA1L APPROVED pseudo HGNC:5032 INFERRED 7246834 HNRNPA1P61 heterogeneous nuclear ribonucleoprotein A1 pseudogene 61 2 2 2 p22.3 33700270 33701223 + 33861509 33862722 + 33636442 33637655 + 100288283 ABBA01074909;AC093393;AMYH02003571;NG_021559 pseudo HGNC:48791 INFERRED 7246410 HNRNPA1P64 heterogeneous nuclear ribonucleoprotein A1 pseudogene 64 1 1 1 p31.1 79155921 79200945 - 80916833 80917682 - 80451148 80451997 - 100129325 ABBA01074366;AL596276;AMYH02001333;NG_032722 pseudo HGNC:48794 INFERRED 7246469 HNRNPA1P60 heterogeneous nuclear ribonucleoprotein A1 pseudogene 60 11 11 11 q23.1 107811981 107812925 - 110658555 110659792 - 110787832 110789069 - 120364 ABBA01039829;AC009294;AMYH02025568;NG_021803 pseudo HGNC:48790 INFERRED 7246204 HNRNPA1P66 heterogeneous nuclear ribonucleoprotein A1 pseudogene 66 2 2 2 p15 63823855 63824780 - 63978828 63979753 - 63751694 63752619 - 391378 ABBA01075407;AC096664;AC114748;AMYH02003959;NG_021502 pseudo HGNC:48796 INFERRED 7246801 HNRNPA1P68 heterogeneous nuclear ribonucleoprotein A1 pseudogene 68 1 1 1 99668261 99669226 - 101406578 101407543 - 100941022 100941987 - 100421397 ABBA01045434;AC104506;AMYH02001561;NG_026964 pseudo HGNC:48798 INFERRED 7246701 HNRNPA1P63 heterogeneous nuclear ribonucleoprotein A1 pseudogene 63 1 1 1 p32.3 53290026 53290985 + 55002413 55003624 + 54536740 54537951 + 645436 ABBA01074712;AC099796;AMYH02001054;NG_022780 pseudo HGNC:48793 INFERRED 1347288 HNRNPA1P7 heterogeneous nuclear ribonucleoprotein A1 pseudogene 7 18 18 18 q12.1 26798422 26800153 - 29991469 29993200 - 32411506 32413237 - 2836799 388275 ABBA01022486;AC021224;AMYH02034523;NG_005529;NG_030329 HNRPA1L3 APPROVED pseudo HGNC:31015 INFERRED 7246583 HNRNPA1P67 heterogeneous nuclear ribonucleoprotein A1 pseudogene 67 4 4 4 q13.3 71029082 71030001 + 73672904 73674101 + 72807187 72808384 + 728019 ABBA01022983;AC096728;AMYH02009452;NG_022062 pseudo HGNC:48797 INFERRED 7246674 HNRNPA1P73 heterogeneous nuclear ribonucleoprotein A1 pseudogene 73 7 7 p15.2 27357060 27362458 - 27368127 27373527 - 100129606 ABBA01056768 pseudo HGNC:48803 MODEL 7246308 HNRNPA1P71 heterogeneous nuclear ribonucleoprotein A1 pseudogene 71 15 15 15 10106004 10106939 + 33304331 33305266 + 33012130 33013065 + 100421433 ABBA01038561;AC018515;AMYH02030129;NG_025372 pseudo HGNC:48801 INFERRED 7246799 HNRNPA1P77 heterogeneous nuclear ribonucleoprotein A1 pseudogene 77 3 3 3 44824105 44825060 + 44886139 44887094 + 44844647 44845602 + 100421378 ABBA01024736;AC098649;AMYH02006651;NG_025692 pseudo HGNC:48807 INFERRED 7246846 HNRNPA1P70 heterogeneous nuclear ribonucleoprotein A1 pseudogene 70 12 12 12 q15 68093599 68094606 + 68429547 68430554 + 68035767 68036774 + 17643375 341333 ABBA01026561;AC005294;AMYH02026693;NG_021724 pseudo HGNC:48800 INFERRED 5490909 HNRNPA1P9 heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 7 7 7 81855661 81856612 + 87150777 87151728 + 87521461 87522412 + 100421389 ABBA01045868;AC005068;AMYH02016216;CH236949;NG_026603 pseudo HGNC:39127 INFERRED 7246762 HNRNPA1P74 heterogeneous nuclear ribonucleoprotein A1 pseudogene 74 15 15 15 31508061 31508991 - 54612928 54613858 - 54320730 54321660 - 100421430 ABBA01039038;AC022302;AMYH02030468;NG_025316 pseudo HGNC:48804 INFERRED 1321287 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008] 7 7 7 p15 26218541 26229398 - 26229547 26240413 - 26189927 26200793 - 1580863;6480464;8554872 10381337;10441480;10772824;10978504;11510693;11517223;11771750;11790298;11991638;12060656;12065097;12097415;12226669;12243756;12477932;12509629;12565831;12927788;12945950;14559993;14608468;14692562;15047060;15147968;15302935;15375589;15518812;15567486;15659580;15703215;15782174;15848144;15975576;16000324;16009940;1602151;16159877;16196087;16226712;16230076;16294306;16344560;16464861;16775011;16859514;16964243;1699755;17004321;17067748;17267499;17289661;17332742;17611602;17620599;17643375;17955473;17991743;18029348;18032920;1833625;18377426;18391021;18457437;18461365;18519039;19471022;19609729;19738201;19805454;19928837;19934309;19946888;20000738;20010808;20016921;20020773;20133837;20181627;20201926;20232340;20462248;20471030;20604928;20618440;20639865;20946641;20978319;21081666;21110914;21139048;21145461;21175803;21182205;21321999;21547579;21565611;21575865;21642356;21642987;21853274;21858080;21865391;21890473;21900206;21900255;21906983;21907836;21942715;21963094;22053931;22079093;22113938;22174317;22178446;22187150;22205302;22268729;22325225;22372738;22412018;22484615;22505724;22623428;22628224;22810585;22863883;22939629;22944692;22990118;23000965;23125841;23166591;23184937;23246001;23255806;23398456;23443559;23455423;23455922;23463506;23593027;23658645;23697369;23798571;23827524;23862649;23976881;24098712;24119545;24157614;24244333;24332808;24337577;24356509;24418537;24457600;24583282;24591637;24654937;24675500;24690621;25015289;25027693;2557628;3733753;7503735;7789969;8029005;9187682;9731529;9761751 3181 P22626 ABBA01056745;AC004520;AC010677;AK026373;AK129839;AK289429;AMYH02015390;BC000506;BC045724;BX537494;BX538099;BX641084;CH236948;CH471073;D28877;DB244417;M29064;M29065;NG_029680;NM_002137;NM_031243;U09121;U09123;XM_005249729;XM_006715714;XR_242076;XR_242077;XR_428077;XR_428078 AAA36574;AAA60271;AAB60650;AAH00506;BAA06031;BAA06032;BAF82118;EAW93834;EAW93835;EAW93836;EAW93837;EAW93838;EAW93839;EAW93840;EAW93841;NP_002128;NP_112533;P22626;XP_005249786;XP_006715777 Hs.487774 1647943;1665406;1696692;1696878;1776777;2121592;2135955;2135957;2189333 A005W29;D7S714;G20554;G49184;HNRPA2B1;MARC_1211-1212:991931105:1;RH18364;SHGC-56024;SHGC-83036 DKFZp779B0244;FLJ22720;HNRNPA2;HNRNPB1;HNRPA2;HNRPA2B1;HNRPB1;IBMPFD2;RNPA2;SNRPB1 OTTHUMP00000122511;OTTHUMP00000122512;OTTHUMP00000202465;OTTHUMP00000202466;heterogeneous nuclear ribonucleoprotein B1;heterogeneous nuclear ribonucleoproteins A2/B1;hnRNP A2 / hnRNP B1;hnRNP A2/B1;nuclear ribonucleoprotein particle A2 protein APPROVED protein-coding ENSG00000122566 HGNC:5033 02526 600124 REVIEWED 1343696 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN gene expression (inferred); mRNA splicing, via spliceosome (inferred); RNA splicing (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN catalytic step 2 spliceosome; nucleus; INTERACTS WITH (Z)-3-butylidenephthalide; 1-chloro-2,4-dinitrobenzene; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 q31.2 171679860 171691117 + 178076063 178088687 + 177212228 177223959 + 625404;737633;1580863;6480464;6907045 11886857;12477932 11991638;12226669;14559993;15161980;15489334;15776420;15815621;15848144;16196087;16344560;17332742;17353931;17620599;17919748;18029348;19471022;19738201;19805454;20020773;20085233;20360068;20462248;20600361;20639865;21081666;21110914;21139048;21145461;21182205;21642987;21853274;21890473;21906983;21907836;21942715;22108332;22145905;22174317;22178446;22505724;22546510;22586326;22623428;22751105;22797925;22939629;23000965;23125841;23151878;23166591;23184937;23398456;23463506;23827524;24244333;24332808;24457600;24550385;24583282;24654937;24657165;24778252;24816145;25027693;8093642;8101480 220988 B4DDB6;H7C1J8;P51991 ABBA01062230;AC079305;AF517524;AK293125;AK303208;AK304687;AK316434;AL832246;AMYH02005313;AY363225;BC032437;BC061894;BC064494;BC069022;BC080591;BC112027;BC113470;BX647217;CH471058;DB093606;NM_194247;XM_005246380;XM_005246381;XM_005246382;XM_006712365;XR_427076 AAH80591;AAI12028;AAI13471;AAM51824;AAQ63629;AAY14709;BAG56677;BAG64298;BAG65458;BAH14805;EAX11063;EAX11064;EAX11065;EAX11066;NP_919223;P51991;XP_005246437;XP_005246438;XP_005246439;XP_006712428 Hs.516539 1644463;1672062;1687363;1850326;1850328;2125327;2155206;5021488;5109605 A005V30;D2S1713E;D2S2652;G15955;G20537;RH69975;RH78869;RH91765;WI-16370 2610510D13Rik;D10S102;FBRNP;HNRPA3;MGC138232;MGC142030 OTTHUMP00000163352;OTTHUMP00000205091;OTTHUMP00000205092;OTTHUMP00000205139;OTTHUMP00000205141;OTTHUMP00000207979;hnRNP A3 protein-coding ENSG00000170144 HGNC:24941 605372 VALIDATED 4737722 HNRNPA1P8 heterogeneous nuclear ribonucleoprotein A1 pseudogene 8 7 7 7 q21.11 79312251 79318390 + 84612811 84614155 + 84983495 84984839 + 11181995 402562 ABBA01045886;AC004957;AMYH02016194;CH236949;CH471091;NG_006966 EAW76978 pseudo HGNC:39126 INFERRED 7246216 HNRNPA3P10 heterogeneous nuclear ribonucleoprotein A3 pseudogene 10 12 12 12 50908585 50909504 - 52106471 52107390 - 51712687 51713606 - 100421413 ABBA01031616;AC140060;AMYH02026491;NG_024011 pseudo HGNC:48756 INFERRED 7246873 HNRNPA3P12 heterogeneous nuclear ribonucleoprotein A3 pseudogene 12 1 1 1 52728540 52729393 - 54440851 54441704 - 53975178 53976031 - 100421395 ABBA01074729;AL031427;AMYH02001044;NG_026941 pseudo HGNC:48758 INFERRED 7246748 HNRNPA3P13 heterogeneous nuclear ribonucleoprotein A3 pseudogene 13 4 4 4 q21.22 80340398 80343501 + 83049681 83052784 + 82128528 82131631 + 15776420 441026 ABBA01063423;AC095049;AMYH02009593;NG_005584 pseudo HGNC:48759 INFERRED 7246599 HNRNPA3P14 heterogeneous nuclear ribonucleoprotein A3 pseudogene 14 1 1 1 p31.1 80124931 80125817 + 81892210 81893096 + 81426525 81427411 + 729817 ABBA01074355;AC095035;AMYH02001352;NG_022787 pseudo HGNC:48760 INFERRED 1350276 HNRNPA3P1 heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 This locus shares sequence similarity with heterogeneous nuclear ribonuclear proteins and represents an apparent transcribed pseudogene of the HNRPA3 gene, which maps to chromosome 2. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 40286436 40289441 - 44282860 44285865 - 43787412 43790417 - 6480464 11886857;15776420;17643375;20562859;20716340;23472165;8093642;8101480 10151 ABBA01050012;AL355989;AMYH02022716;NR_002726;S63912 Hs.632956 1648887;5021488 D10S2289;G15955 D10S102;FBRNP;HNRPA3;HNRPA3P1 APPROVED pseudo HGNC:13729 05644 VALIDATED 7246537 HNRNPA3P11 heterogeneous nuclear ribonucleoprotein A3 pseudogene 11 15 15 15 34429547 34430435 - 57539286 57540174 - 57247088 57247976 - 100421431 ABBA01038995;AC090532;AMYH02030519;NG_025320;NG_033851 pseudo HGNC:48757 INFERRED 7246832 HNRNPA3P16 heterogeneous nuclear ribonucleoprotein A3 pseudogene 16 18 18 18 45197503 45198654 + 48340758 48341909 + 50814388 50815539 + 100421451 ABBA01018676;AC015864;AMYH02034703;NG_026331 pseudo HGNC:48762 INFERRED 1603170 HNRNPA3P2 heterogeneous nuclear ribonucleoprotein A3 pseudogene 2 20 20 20 q11.23 31955879 31956923 + 35248805 35249849 + 36620402 36621446 + 170526 ABBA01006583;AL050318;AMYH02037027;NG_001042;NG_031823 HNRPA3P;HNRPA3P2;dJ977B1.2 pseudo HGNC:16605 INFERRED 5130444 HNRNPA3P5 heterogeneous nuclear ribonucleoprotein A3 pseudogene 5 13 13 13 q21.32 47262135 47263354 - 66361676 66362895 - 65787544 65788763 - 15776420 387933 ABBA01050272;AL354775;AMYH02028189;NG_005585 pseudo HGNC:39774 INFERRED 5130446 HNRNPA3P3 heterogeneous nuclear ribonucleoprotein A3 pseudogene 3 X X X q27.1 139484752 139486318 + 139114463 139116029 + 140032304 140033870 + 15776420 643689 AL589987;AMYH02040617;NG_005582 pseudo HGNC:39772 INFERRED 7244062 HNRNPA3P6 heterogeneous nuclear ribonucleoprotein A3 pseudogene 6 3 3 3 p12.3 75201162 75202351 + 75263610 75264799 + 75214459 75215648 + 12477932;15776420 653115 ABBA01030983;AC117481;AMYH02007083;NG_005586 pseudo HGNC:48495 INFERRED 5130447 HNRNPA3P4 heterogeneous nuclear ribonucleoprotein A3 pseudogene 4 6 6 6 p12.3 49672504 49674051 - 48116234 48117781 - 48148498 48150045 - 15776420 389395 ABBA01050604;AL353138;AMYH02013699;NG_005583 pseudo HGNC:39773 INFERRED 7244108 HNRNPA3P7 heterogeneous nuclear ribonucleoprotein A3 pseudogene 7 5 5 5 149792792 149793676 - 153717107 153717991 - 154337547 154338431 - 100421357 ABBA01026241;AC008625;AMYH02012502;NG_024635 pseudo HGNC:48496 INFERRED 7244080 HNRNPA3P8 heterogeneous nuclear ribonucleoprotein A3 pseudogene 8 3 3 3 p12.2 81009772 81010886 + 80265411 80266414 + 80216261 80217264 + 100129557 ABBA01031038;AC106726;AMYH02007134;NG_029271 pseudo HGNC:48497 INFERRED 7246582 HNRNPABP1 heterogeneous nuclear ribonucleoprotein A/B pseudogene 1 12 12 12 p13.2 15425020 15425753 + 10264337 10265070 + 10111738 10112471 + 390294 ABBA01067796;AC024224;AMYH02026022;NG_021704 pseudo HGNC:48744 INFERRED 7246293 HNRNPA3P9 heterogeneous nuclear ribonucleoprotein A3 pseudogene 9 11 11 11 32760161 32761064 - 32613409 32614312 - 32591863 32592766 - 100421415 ABBA01060908;AL078477;AMYH02024559;NG_024325 pseudo HGNC:48755 INFERRED 1603848 HNRNPCL1 heterogeneous nuclear ribonucleoprotein C-like 1 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN nucleus (inferred); ribonucleoprotein complex (inferred); INTERACTS WITH cisplatin; (S)-nicotine (ortholog); 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (ortholog) 1 1 1 p36.21 12020235 12021552 - 12907261 12908578 - 12847408 12848725 - 6480464 12477932;14559993;16710414;18457437;19471022;20085233;21110914;21139048;21145461;21890473;21903422;21906983;21963094;22178446;22505724;22939629;23000965;23602568;24244333;24332808;24550385;24654937;25027693 343069 O60812;Q6PKD2 ABBA01003099;AC245034;AL022101;BC002696;BC137258;BC171866;BX283835;CH471130;NM_001013631 AAH02696;AAI37259;AAI71866;EAW71752;NP_001013653;O60812 Hs.502617 HNRPCL1;RP5-845O24.4 OTTHUMP00000001928;hnRNP C-like-1;hnRNP core protein C-like 1 protein-coding ENSG00000179172 HGNC:29295 15466 VALIDATED 730896 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are produced by RNA polymerase II and are components of the heterogeneous nuclear RNA (hnRNA) complexes. They are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene, which binds to one of the components of the multiprotein editosome complex, has two repeats of quasi-RRM (RNA recognition motif) domains that bind to RNAs. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 173258497 173265171 + 177631508 177638184 + 178204507 178211183 + 1580863;6480464 11313474;11790298;11937625;12388589;12477932;12692135;14702039;14704337;14722087;15324660;15489334;15782174;16964243;1717314;17289661;17332742;17353931;17643375;18029348;18457437;18850631;19738201;20000738;20020773;20085233;20211142;20360068;21110914;21139048;21145461;21182205;21642987;21853274;21890473;21906983;21942715;22053931;22174317;22178446;22365833;22505724;22623428;22751105;22863883;22939629;23000965;23077236;23125841;23151878;23184937;23246001;23398456;23500468;23825951;24332808;24457600;24583282;24591637;24638979;24654937;24778252;25015289;25027693;8125298;8895530;8999813 3182 D6R9P3;D6RBZ0;D6RD18;Q99729 ABBA01009991;AC136632;AI199152;AK054600;AK097657;AK223425;AMYH02012861;BC001616;BC002625;BC004561;BC009359;BC015556;BC036708;CH471165;M65028;NM_004499;NM_031266;U76713;Z36844 AAA36575;AAC50956;AAH01616;AAH02625;AAH04561;AAH09359;AAH36708;BAC05134;BAD97145;BAG51397;EAW53842;EAW53843;EAW53844;EAW53845;NP_004490;NP_112556;Q99729 Hs.591731;Hs.715055 1647342;1674081;1677420;1725801;1851352;2217438 D5S2662;G62077;HNRPAB_3078;RH67928;STS-M65028;WI-18902 ABBP-1;ABBP1;FLJ40338;HNRPAB;hnRNP A/B APOBEC1-binding protein 1;OTTHUMP00000223971;OTTHUMP00000223972;OTTHUMP00000223973;OTTHUMP00000223974;OTTHUMP00000223975;OTTHUMP00000223976;OTTHUMP00000223977;apobec-1 binding protein 1;apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1-binding protein 1;hnRNP type A/B protein APPROVED protein-coding ENSG00000197451 HGNC:5034 04067 602688 REVIEWED 9587730 HNRNPCL3 heterogeneous nuclear ribonucleoprotein C-like 3 ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); FOUND IN nucleus (inferred); ribonucleoprotein complex (inferred) 1 13061232 13062231 + 12477932;21139048;21890473;21906983;21963094;22505724;23000965;23349634 649330 B7ZW38 ABBA01179502;AC245056;BC171859;BC171865;NM_001146181 AAI71859;AAI71865;B2RXH8;NP_001139653 Hs.502617 heterogeneous nuclear ribonucleoprotein C-like protein-coding HGNC:51235 VALIDATED 9587498 HNRNPCL4 heterogeneous nuclear ribonucleoprotein C-like 4 1 13164555 13165482 - 101060301 B7ZW38 AC245056;CR854858;XM_003960114;XM_006711084;XM_006724957 XP_003960163;XP_006711147;XP_006725020 protein-coding ENSG00000179412 HGNC:51333 MODEL 7246124 HNRNPCL2 heterogeneous nuclear ribonucleoprotein C-like 2 ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); FOUND IN nucleus (inferred); ribonucleoprotein complex (inferred) 1 1 1 p36.21 12107008 12108374 + 13182960 13184326 - 13115488 13116854 - 12477932;17643375;21139048;21890473;21906983;21963094;22505724;23000965 440563 B2RXH8 ABBA01018840;AC245056;BC144551;BC157858;BC171863;BX640550;CR854858;NM_001136561 AAI44552;AAI57859;AAI71863;NP_001130033 Hs.711869 HNRNPCP5 heterogeneous nuclear ribonucleoprotein C pseudogene 5;heterogeneous nuclear ribonucleoprotein C-like APPROVED protein-coding ENSG00000275774 HGNC:48813 VALIDATED 7246335 HNRNPCP10 heterogeneous nuclear ribonucleoprotein C pseudogene 10 X X X q27.3 144234755 144235659 + 143922298 143923181 + 144840777 144841660 + 100129229 ABBA01054466;AL159988;AMYH02040714;NG_030279 pseudo HGNC:48821 INFERRED 7246833 HNRNPCP2 heterogeneous nuclear ribonucleoprotein C pseudogene 2 2 2 2 184382833 184384542 + 190787895 190789616 + 189923169 189924890 + 11181995 653447 ABBA01062381;AC019178;AMYH02005433;CH471058;NG_006653 EAX10881;EAX10882 pseudo HGNC:48814 INFERRED 7246863 HNRNPCP3 heterogeneous nuclear ribonucleoprotein C pseudogene 3 15 15 15 q25.1 56465263 56466136 + 79528674 79529547 + 79236332 79237205 + 646956 ABBA01060605;AC011797;AMYH02030875;NG_022134 pseudo HGNC:48815 INFERRED 1343036 HNRNPCP1 heterogeneous nuclear ribonucleoprotein C pseudogene 1 14 14 14 q23.1 39037644 39039456 + 58987652 58989464 + 58520934 58522746 + 319133 ABBA01018262;AL133312;AL135752;AMYH02029283;NG_002511 HNRPCP APPROVED pseudo HGNC:20017 INFERRED 7246123 HNRNPCP4 heterogeneous nuclear ribonucleoprotein C pseudogene 4 16 16 16 11505930 11506826 + 11336510 11337406 + 11242653 11243549 + 100421828 ABBA01006810;AC009121;AMYH02031462;NG_026395 pseudo HGNC:48816 INFERRED 1320619 HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1537857 1598198 - 21677295 21737638 - 21209136 21269479 - 1580863;6480464;6907045 10409733;10629032;10772858;10964780;11162094;11687588;11790298;11877401;11991638;12226669;12477932;12482981;12509468;12564933;1380452;1385725;14559993;14704337;15034300;15082759;15161933;15302935;15489334;15494373;15635413;15687492;15731220;15767428;15848144;15936032;16010978;16159877;16189514;16196087;16210410;16217013;16226712;16807684;16960656;17071612;17081983;17159903;17287399;17289661;17332742;17353931;17500595;17620599;17643375;17955473;18239623;18296503;18337511;18471994;18494499;18508286;19167051;19322201;19405953;19447967;19471022;19531213;19628962;19738201;19740742;19759913;20000738;20020773;20164237;20189623;20462248;20473314;20508642;20601959;20618440;20873769;21110914;21139048;21145461;21252943;21319273;21642987;21693764;21738484;21774814;21853274;21890473;21903422;21906983;21942715;21963094;21988832;22079093;22113938;22174317;22178446;22268729;22365833;22404445;22446626;22461616;22505724;22623428;22751105;22907752;22912744;22939629;22990118;23000965;23084401;23125841;23151878;23192344;23246001;23374342;23398456;23443559;23455922;23585894;23602568;23825951;23862649;23973260;24244333;24457600;24583282;24591637;24654937;24816145;25015289;25027693;2557628;2587210;3110598;3457372;7567451;7821789;8125298;8264621;8473331;9516488;9731529 3183 B4DSU6;B4DY08;G3V251;G3V2D6;G3V2H6;G3V2Q1;G3V3K6;G3V4C1;G3V4M8;G3V4W0;G3V555;G3V575;G3V576;G3V5V7;G3V5X6;P07910 AB209527;ABBA01061240;ABBA01061241;AK126950;AK223517;AK225032;AK292619;AK297482;AK298906;AK299923;AK302213;AK312338;AK312382;AL135744;AL833432;AMYH02028830;AMYH02028831;AMYH02028832;AMYH02028833;AMYH02028834;BC003394;BC007052;BC008364;BC008423;BC066932;BC071943;BC089438;BC092433;BC103758;BC108658;BX161480;BX247961;BX247992;CH471078;CQ834840;D28382;DB449514;M16342;M29063;NG_029011;NM_001077442;NM_001077443;NM_004500;NM_031314;XM_006720124;XM_006720125;XM_006720126;Z70766 AAA36576;AAA52680;AAH03394;AAH07052;AAH08364;AAH08423;AAH66932;AAH89438;AAH92433;AAI03759;AAI08659;ADR82775;BAA05748;BAD92764;BAD97237;BAF85308;BAG35259;BAG35300;BAG54408;BAG59903;BAG61014;BAG61758;BAG63570;CAD61934;CAD62300;CAD62326;CAH05635;EAW66392;EAW66393;EAW66394;EAW66395;EAW66396;EAW66397;EAW66398;EAW66399;EAW66400;NP_001070910;NP_001070911;NP_004491;NP_112604;P07910;XP_006720187;XP_006720188;XP_006720189 Hs.508848;Hs.675546 1664285;1694558;1725229;1769190;1772036;1797690;2121329;2144819;2177480;2183602;5124784 G35991;G36108;G36145;G43228;HNRPC_2223;RH118907;RH66344;RH68331;RH70234;RH80802;WI-19322 C1;C2;HNRNP;HNRPC;MGC104306;MGC105117;MGC117353;MGC131677;SNRPC OTTHUMP00000244316;OTTHUMP00000244317;OTTHUMP00000244318;OTTHUMP00000244319;OTTHUMP00000244320;OTTHUMP00000244321;OTTHUMP00000244322;OTTHUMP00000244323;OTTHUMP00000244325;OTTHUMP00000244326;OTTHUMP00000244327;OTTHUMP00000244328;OTTHUMP00000244329;OTTHUMP00000244330;OTTHUMP00000244331;OTTHUMP00000244332;OTTHUMP00000244333;OTTHUMP00000244334;heterogeneous nuclear ribonucleoproteins C1/C2;hnRNP C1/C2;nuclear ribonucleoprotein particle C1 protein;nuclear ribonucleoprotein particle C2 protein APPROVED protein-coding ENSG00000092199 HGNC:5035 01243 164020 REVIEWED 7246423 HNRNPCP6 heterogeneous nuclear ribonucleoprotein C pseudogene 6 11 11 11 82041115 82041987 - 84731825 84732697 - 85020781 85021653 - 100421794 ABBA01017342;AMYH02025208;AP000857;NG_024391 pseudo HGNC:48817 INFERRED 7246541 HNRNPCP7 heterogeneous nuclear ribonucleoprotein C pseudogene 7 7 7 7 q11.21 57680965 57681869 + 63961203 63962107 + 64500825 64501729 + 9847074 100127907 ABBA01027977;AC022202;AMYH02015850;NG_012728 pseudo HGNC:48818 INFERRED 7246858 HNRNPCP8 heterogeneous nuclear ribonucleoprotein C pseudogene 8 11 11 11 q14.2 84046981 84048174 + 86735626 86736818 + 87024584 87025776 + 100131842 ABBA01017314;AMYH02025239;AP001528;NG_021828 pseudo HGNC:48819 INFERRED 7246557 HNRNPCP9 heterogeneous nuclear ribonucleoprotein C pseudogene 9 1 1 1 p31.3 66416656 66417538 - 68108396 68126698 - 67642713 67661015 - 100130196 ABBA01074515;AL139258;AMYH02001208 pseudo HGNC:48820 MODEL 7246468 HNRNPDLP1 heterogeneous nuclear ribonucleoprotein D-like pseudogene 1 X X X q21.33 95417993 95418544 + 94893356 94893907 + 95638357 95638908 + 100128595 ABBA01064701;AL365400;AMYH02039997;NG_022680 pseudo HGNC:48752 INFERRED 733451 HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008] 4 4 4 q21 80565274 80585965 - 83274467 83295149 - 82353314 82373996 - 1580863;6480464 10024518;10080887;10205060;10373504;10900464;10933876;11051545;11531333;11856759;11903055;12107167;12136087;12226669;12356764;12388589;12477932;12674497;12819194;12819195;1433497;14559993;14585195;14711832;14769789;15047060;15231747;15257295;15302935;15489334;15514034;15659558;15734733;15782174;15815621;15951444;16094384;16109718;16144962;16155006;16196087;16236267;16289864;16335786;16341674;16494882;16556936;16835382;16902409;16954375;17030625;17081983;17289661;17370265;17486099;17620599;17626845;17643375;17878526;18029348;18202450;18240226;18413351;18457437;18573886;18650551;18842733;18844578;18850631;19015635;19074427;19380743;19454010;19574297;19738201;19759913;20000738;20102719;20360068;20489206;20571027;20639865;20926381;21081666;21110914;21135123;21139048;21145461;21245386;21319273;21549307;21642987;21733716;21799732;21853274;21890473;21900206;21906983;21942715;21956942;21963094;22053931;22086907;22108332;22134169;22159912;22174317;22187150;22203679;22365833;22368252;22431556;22446626;22505724;22623428;22751105;22797925;22863883;22939629;23000965;23012480;23125841;23131833;23151878;23184937;23398456;23463506;23530064;23572232;23603392;23825951;23874603;23940053;24158514;24213928;24244333;24332808;24337577;24416409;24457600;24583282;24591637;24654937;24690621;24816145;25027693;3754960;7673195;8246982;8321232;8661052;9234743;9521873;9615222;9632798 3184 B4DTC3;D6RAF8;D6RBP9;D6RBQ9;D6RD83;D6RF44;H0Y8G5;H0YA96;Q14103 ABBA01063430;AC124016;AF026126;AF039575;AK057836;AK292707;AK300149;AK303552;AMYH02009597;BC002401;BC023977;BC026015;BF693760;BG180865;BG180941;BG325979;BM825808;BM832779;CH471057;D55671;D55672;D55673;D55674;HB887011;HC944420;M94630;NG_029103;NM_001003810;NM_002138;NM_031369;NM_031370;X03910 AAA35781;AAB96683;AAC23474;AAC23475;AAC23476;AAH02401;AAH23977;AAH26015;AAY40913;ABM83166;ABM86366;BAA09522;BAA09523;BAA09524;BAA09525;BAF85396;BAG61935;BAG64576;CAA27544;CBF67662;CBU92536;EAX05872;EAX05873;EAX05874;EAX05875;EAX05876;EAX05877;EAX05878;EAX05879;EAX05880;EAX05881;EAX05882;EAX05883;NP_001003810;NP_002129;NP_112737;NP_112738;Q14103 Hs.480073 1647822;1660015;1678769;1685099;1685588;1768497;1788792;2114761;2119996;2122279;2161490;2171316;2191463;2191465;2191467;2217440;5021964 D4S1212;G33930;HNRPD_3237;Hnrnpd;MARC_23646-23647:1029444341:1;MARC_23648-23649:1029444924:1;MARC_23650-23651:1029445581:1;RH136938;SHGC-24787;SHGC-31001;SHGC-51763;SHGC-59507;SHGC-59708;SHGC-67254;SHGC-67336;SHGC-67972;STS-N23160 AUF1;AUF1A;HNRPD;P37;hnRNPD0 ARE-binding protein AUFI, type A;AU-rich element RNA-binding protein 1;OTTHUMP00000160798;OTTHUMP00000160799;OTTHUMP00000160800;OTTHUMP00000219401;OTTHUMP00000219403;OTTHUMP00000219469;heterogeneous nuclear ribonucleoprotein D0;hnRNP D0;rna binding protein p45auf1 APPROVED protein-coding HGNC:5036 03206 601324 REVIEWED 7246503 HNRNPDLP2 heterogeneous nuclear ribonucleoprotein D-like pseudogene 2 2 2 2 q24.1 152897992 152898570 + 159281237 159281815 + 158424725 158425303 + 100128061 ABBA01004850;AC008070;AC019044;AMYH02005057;NG_021589 pseudo HGNC:48753 INFERRED 7246188 HNRNPDLP4 heterogeneous nuclear ribonucleoprotein D-like pseudogene 4 19 19 19 55603903 55604404 - 58560414 58560915 - 58049046 58049547 - 100421657 ABBA01020786;AC008751;AMYH02036527;NG_024209 pseudo HGNC:48808 INFERRED 1352411 HNRNPDP1 heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 1 X X X q11.1 63610724 63612301 + 63263882 63265459 + 64044002 64045579 + 8661052 8251 ABBA01066850;ABBA01066851;AL356003;AMYH02039596;NG_000874 5021964 Hnrnpd AUF1B;AUF1P;HNRNPDP;HNRPDP APPROVED pseudo HGNC:5038 INFERRED 1320569 HNRNPDL heterogeneous nuclear ribonucleoprotein D-like This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011] 4 4 4 q21.22 80635634 80642665 - 83343717 83351378 - 82422564 82430225 - 6480464;7240710;8699517;8554872 10072754;11705999;12477932;14702039;15190078;15302935;16011250;17353931;17592041;17643375;18095154;18381662;18850631;18854154;19019082;19322201;19738201;20000738;20020773;20186120;20205790;20360068;21110914;21139048;21145461;21300069;21575865;21642987;21853274;21890473;21906983;21942715;21963094;22053931;22113938;22174317;22268729;22360420;22505724;22623428;22939629;22990118;23000965;23151878;23254330;23642268;24244333;24332808;24457600;24591637;24816145;25027693;8889548;9524220;9538234;9847074 9987 O14979 AB017018;AB017019;AB066484;ABBA01063435;AC110787;AC124016;AK057480;AK294683;AK300122;AMYH02009597;AY453824;BC007392;BC011714;BC018961;BC071944;CH471057;CK300994;CR407623;D89092;D89678;HB886865;HC944274;NG_029681;NM_001207000;NM_031372;NR_003249;X75683 AAH07392;AAH11714;AAH71944;AAR17782;AAY40914;ABM83797;ABM87118;BAA22860;BAA24361;BAA75239;BAA75240;BAA75241;BAB62188;BAG57844;BAG61914;CAG28551;CBF67589;CBU92463;EAX05885;EAX05886;EAX05887;EAX05888;EAX05889;EAX05890;EAX05891;NP_001193929;NP_112740;O14979 Hs.527105;Hs.707013 1674133;1680118;1680333;1734270;1750249;2133114;2133116;2149295;2156084 A006C21;D4S2464E;G20700;RH68197;RH92417;SHGC-112490;SHGC-24715;SHGC-50505;SHGC-67337 HNRNP;HNRPDL;JKTBP;JKTBP2;LGMD1G;hnRNP DL;laAUF1 A+U-rich element RNA binding factor;AU-rich element RNA-binding factor;JKT41-binding protein;OTTHUMP00000160812;OTTHUMP00000219470;hnRNP D-like APPROVED protein-coding ENSG00000152795 HGNC:5037 06185 607137;609115 REVIEWED 1349083 HNRNPF heterogeneous nuclear ribonucleoprotein F This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 39883455 39907087 - 43881065 43904696 - 43385617 43409248 - 1580863;6480464 10456323;10620016;11003644;11054566;11158309;11827452;11991638;12226669;12388589;12477932;1351868;14702039;14980514;15161933;15161980;15164054;15302935;15489334;15592455;15635413;16055720;16159877;16196087;16236267;16344560;16385451;16424007;16568080;16713569;16885237;17081983;17220478;17314511;17549794;17620599;17725712;17932509;18029348;18187620;18377426;18654987;18781797;19244236;19322201;19394292;19454010;19738201;19946888;20308064;20308327;20360068;20473970;20508642;20526337;21081666;21110914;21139048;21145461;21182205;21252943;21319273;21565611;21625959;21853274;21890473;21900255;21906983;21963094;21987572;21988832;22053931;22079093;22132154;22174317;22178446;22268729;22365833;22446626;22505724;22586326;22623428;22797925;22863883;22912744;22939629;23000965;23084401;23125841;23184937;23246001;23255806;23438482;23443559;23602568;23798571;23825951;23862649;24244333;24332808;24457600;24550385;24583282;24591637;24654937;24690621;24816145;25015289;25027693;7499401;7512260;9111328;9858532 3185 B4DKS8;P52597 AB062287;ABBA01050000;AI133166;AK001364;AK296696;AL450326;AL512654;AL542769;AMYH02022711;AMYH02022712;AW069399;AX876593;BC001432;BC004254;BC015580;BC016736;BC106008;CH471160;CR976524;DA535143;DA594075;DA679417;DB011453;DB049909;L28010;NM_001098204;NM_001098205;NM_001098206;NM_001098207;NM_001098208;NM_004966 AAC37584;AAH01432;AAH04254;AAH15580;AAH16736;AAI06009;ABM86307;ABW03801;BAB93470;BAG50896;BAG59290;CAE89345;EAW86595;EAW86596;EAW86597;EAW86598;EAW86599;NP_001091674;NP_001091675;NP_001091676;NP_001091677;NP_001091678;NP_004957;P52597 Hs.712955;Hs.808 1797692;1848167;2159372 HNRPF_2089;RH17918;SGC35271 HNRPF;MGC110997;OK/SW-cl.23;mcs94-1 HnRNP F protein;OTTHUMP00000019482;OTTHUMP00000043413;OTTHUMP00000043414;nucleolin-like protein mcs94-1 APPROVED protein-coding ENSG00000169813 HGNC:5039 03023 601037 REVIEWED 7246485 HNRNPH1P1 heterogeneous nuclear ribonucleoprotein H1 pseudogene 1 6 6 6 q25.3 160779662 160781096 - 160133583 160135017 - 159712551 159713985 - 100132803 ABBA01021065;AL135914;AMYH02014871;NG_022337 pseudo HGNC:48751 INFERRED 7246334 HNRNPH1P2 heterogeneous nuclear ribonucleoprotein H1 pseudogene 2 X X X q27.3 143047517 143048732 - 142760231 142761440 - 143677152 143678361 - 100129368 ABBA01066410;AC239921;AL080239;AMYH02040695;NG_028793 pseudo HGNC:48810 INFERRED 7246871 HNRNPFP1 heterogeneous nuclear ribonucleoprotein F pseudogene 1 1 1 1 p34.2 40788510 40790809 + 42506216 42508516 + 42040545 42042845 + 644449 ABBA01023140;AL158216;AMYH02000874;NG_006068 pseudo HGNC:48812 INFERRED 7246215 HNRNPH1P3 heterogeneous nuclear ribonucleoprotein H1 pseudogene 3 5 5 5 q11.2 52088300 52089573 - 55134580 55135853 - 55838752 55840025 - 15837790 402216 ABBA01015751;ABBA01015752;AC016632;AMYH02011319;NG_021850 pseudo HGNC:48811 INFERRED 1347066 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 (H) This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012] 5 5 5 q35.3 174670146 174679127 - 179041179 179050722 - 179614178 179623721 - 1580863;6480464 10456323;11003644;11790298;11991638;12226669;12388589;12477932;1286667;14559993;14702039;14980514;15047060;15144186;15161933;15161980;15302935;15324660;15456888;15489334;15592455;15635413;16000324;1602151;16055720;16159877;16169070;16196087;16236267;16344560;16946708;17081983;17220478;17267499;17289661;17620599;17643375;17707232;17765891;18029348;18271526;18377426;18781797;18854154;19244236;19299493;19322201;19380743;19394292;19425502;19454010;19738201;19926721;19928837;19946888;20020773;20028692;20100605;20145135;20308327;20360068;20639865;21068389;21110914;21139048;21145461;21194727;21252943;21549307;21705779;21822216;21823664;21853274;21890473;21900255;21906983;21915099;21942715;21963094;21987572;22053931;22108332;22174317;22178446;22207023;22268729;22304920;22365833;22446626;22505724;22623428;22751105;22792276;22797925;22810585;22863883;22912744;22939629;22963397;23000965;23084401;23125841;23184937;23246001;23255806;23261416;23398456;23443559;23463506;23673860;23798571;24140708;24244333;24250222;24332808;24337577;24457600;24583282;24591637;24690621;24816145;25027693;7499401;7512260;9111328;9858532;9973292 3187 D6R9D3;D6R9T0;D6RAM1;D6RBM0;D6RDL0;D6RDU3;D6RF17;D6RFM3;D6RIH9;D6RIT2;D6RIU0;D6RJ04;E5RGH4;E5RGV0;E5RJ94;E7EN40;E7EQJ0;E9PCY7;G8JLB6;H0YAQ2;H0YB39;H0YBD7;H0YBG7;H0YBK1;H0YBW2;P31943 ABBA01010026;AC136604;AK092273;AK124530;AK298193;AK307693;AK311021;AMYH02012881;AMYH02012882;BC001348;BQ028714;BX647205;CH471165;CR456778;DA204744;DA603645;L22009;NM_001257293;NM_005520;XM_005265895;XM_005265896;XM_005265901;XM_005265902;XM_005265903;XM_006714862;XM_006714863 AAA91346;AAH01348;BAG54048;BAG60463;CAG33059;EAW53807;EAW53808;EAW53809;NP_001244222;NP_005511;P31943;XP_005265952;XP_005265953;XP_005265958;XP_005265959;XP_005265960;XP_006714925;XP_006714926 Hs.604001 1650586;1660625;1676656;1694678;1797694;2140472 D5S1862;G16980;G43520;HNRPH1_2339;RH69028;RH78175 DKFZp686A15170;HNRPH;HNRPH1;hnRNPH OTTHUMP00000161513;OTTHUMP00000223418;OTTHUMP00000223419;OTTHUMP00000223421;OTTHUMP00000223422;heterogeneous nuclear ribonucleoprotein H;hnRNP H APPROVED protein-coding ENSG00000169045 HGNC:5041 03021 601035 REVIEWED 1605724 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H') This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed. [provided by RefSeq, Jan 2011] X X X q22 101182649 101188579 + 100663121 100669128 + 101408133 101414140 + 6480464 10456323;11054566;11571276;12226669;12477932;14729942;14980514;15772651;16171461;16344560;17081983;17620599;17643375;18029348;18377426;18781797;18809582;19738201;19913121;19946888;20628086;20639865;21068389;21081666;21110914;21139048;21145461;21853274;21890473;21900255;21906983;21942715;21963094;21987572;22053931;22145905;22174317;22268729;22365833;22446626;22505724;22810585;22939629;23000965;23084401;23125841;23184937;23246001;23383273;23455924;23602568;24457600;24583282;24644279;24690621;24816145;25015289;7499401;7959728;8380905;8425221;9110171 3188 B4DFK9;P55795 AA758785;ABBA01044979;AK294144;AK298133;AL035422;AMYH02040066;BC130343;BC130345;BM997703;BU167621;CH471115;DA686966;NG_016327;NM_001032393;NM_019597;U01923;U78027 AAB64202;AAI30344;AAI30346;ADR82989;ADR83160;BAG57470;BAG60412;EAX02864;NP_001027565;NP_062543;P55795 Hs.432485 1647027;1702320;1742981;1797696;5493623;5493916 GDB:192499;GDB:226672;HNRPH2_2157;Hnrph2;STS-AA037456;UniSTS:489907 FTP-3;FTP3;HNRPH';HNRPH2;hnRNP H';hnRNP H2;hnRNPH' OTTHUMP00000023682;heterogeneous nuclear ribonucleoprotein H';heterogeneous nuclear ribonucleoprotein H-prime;heterogeneous nuclear ribonucleoprotein H2 APPROVED protein-coding ENSG00000126945 HGNC:5042 03022 300610 REVIEWED 5135124 HNRNPKP1 heterogeneous nuclear ribonucleoprotein K pseudogene 1 5 5 5 q23.2 122977962 122979340 - 126847154 126848532 - 127511462 127512840 - 389322 ABBA01068878;AC010424;AMYH02012162;NG_021862 pseudo HGNC:42374 INFERRED 1320680 HNRNPH3 heterogeneous nuclear ribonucleoprotein H3 (2H9) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008] 10 10 10 q22 63366370 63377556 + 70091768 70102953 + 68332011 68343196 + 1580863;6480464 10858537;11004512;11152131;11790298;12477932;1286667;14702039;15489334;15592455;15635413;15975576;16159877;16169070;16344560;16385451;17081983;17353931;17549794;17643375;18029348;18377426;19738201;19928837;20000738;20943442;21110914;21139048;21145461;21320693;21890473;21900206;21900255;21906983;21963094;21987572;22174317;22178446;22190034;22365833;22446626;22505724;22623428;22810585;22939629;23000965;23125841;23151878;23383273;23455922;24244333;24457600;24550385;24591637;24654937;24690621;24816145;25027693;8125298;8619474;8999868;9110174 3189 B4DHY1;P31942;Q53F48 ABBA01019562;AC016395;AF052131;AF132360;AF132361;AF132362;AF132363;AF132364;AK091411;AK223441;AK291547;AK295316;AL117395;AMYH02023250;AW189387;BC004511;BC039824;CH471083;DA486117;NM_012207;NM_021644;XM_005269748;XM_005269749;XM_005269751;XM_005269752;XM_005269753;XM_005269754;XM_006717816;XM_006717817 AAF68843;AAF68844;AAF68845;AAF68846;AAF68847;AAF68848;AAF68849;AAF68850;AAF68851;AAF68852;AAH04511;AAH39824;BAD97161;BAF84236;BAG52353;BAG58293;CAB55897;EAW54280;EAW54281;EAW54282;EAW54283;EAW54284;EAW54285;EAW54286;EAW54287;EAW54288;EAW54289;NP_036339;NP_067676;P31942;XP_005269805;XP_005269806;XP_005269808;XP_005269809;XP_005269810;XP_005269811;XP_006717879;XP_006717880 Hs.643472 1651633;1655228;1655230;1671917;1680300;1781240;1849852 A005Q06;G20409;RH17872;RH80429;WI-11265;WI-17049;stSG69069 2H9;FLJ34092;HNRPH3 OTTHUMP00000019701;OTTHUMP00000035218;heterogeneous nuclear ribonucleoprotein 2H9;heterogeneous nuclear ribonucleoprotein H3;hnRNP 2H9;hnRNP H3 APPROVED protein-coding ENSG00000096746 HGNC:5043 03818 602324 REVIEWED 5135126 HNRNPKP2 heterogeneous nuclear ribonucleoprotein K pseudogene 2 2 2 2 q22.1 130668432 130669818 - 136956687 136958073 - 136199117 136200503 - 389053 ABBA01028152;AC068492;AMYH02004862;NG_021524 pseudo HGNC:42375 INFERRED 5135114 HNRNPKP4 heterogeneous nuclear ribonucleoprotein K pseudogene 4 3 3 3 q11.2 94457032 94458421 + 96068398 96069787 + 96349554 96350943 + 644063 ABBA01026949;AC107304;AMYH02007268;NG_022255 1648431 D15S1328 pseudo HGNC:42377 INFERRED 733485 HNRNPK heterogeneous nuclear ribonucleoprotein K This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008] 9 9 9 q21.32-q21.33 57154011 57166581 - 86582998 86595692 - 83968083 83980660 - 6480464;6907045;8554872 10329716;10369774;10506147;10749975;10772858;10809782;11231586;11259409;11557983;11741984;11748221;11790298;11840567;11867641;11991638;12029088;12052863;12093748;12183049;12183465;12226669;12370808;12388589;12411317;12477932;12529443;12574161;12951515;14559993;14562022;14702039;15039586;15161933;15161980;15170860;15302935;15303970;15486205;15489334;15514164;15635413;15671036;15782174;15848144;15860232;16004877;16009940;16055720;16130169;16189514;16196087;16230076;16236267;16293596;16344560;16360036;16404425;16492668;16496041;16564677;16713569;16964243;17081983;17191129;1729596;17314511;17332742;17361185;17403666;17483488;17561226;17573780;17620012;17620599;17623298;17643375;17667925;17672864;18029348;18377426;18441016;18457437;18472002;18559600;18655026;18854243;18854308;19015635;19059912;19101556;19135240;19165527;19170760;19174163;19249676;19258514;19330019;19380743;19394292;19401687;19520842;19531213;19548310;19596686;19609950;19653139;19738201;19747914;19805454;19808671;19880579;19946888;20085233;20224598;20360068;20371611;20408130;20467438;20499280;20548952;20623123;20697350;20888333;20936779;20972266;21044950;21139048;21145461;21151833;21182205;21184736;21233203;21252943;21319273;21321982;21466159;21549307;21821029;21853274;21890473;21900255;21906983;21942715;21963094;21987572;21988832;22053931;22178446;22268729;22321252;22335908;22365833;22379092;22446626;22457825;22505724;22542455;22558309;22582387;22623428;22751105;22760167;22797925;22825850;22863883;22879910;22939629;22960638;23000965;23084401;23092970;23099853;23125841;23184937;23246001;23317503;23343766;23455382;23463506;23503679;23519117;23564449;23798440;23798571;23824909;23825951;23843646;23857582;23862649;23974796;24244333;24332808;24337577;24457600;24508256;24583282;24594223;24639526;24654937;24816145;25015289;25027693;7516469;7862126;8051112;8107114;8152927;8398153;8628302;8810341;8833161;8889548;9185665;9399639;9553145;9651361 3190 B4DFF1;B4DUQ1;P61978;Q5T6W1;Q5T6W2;Q5T6W5;Q6IBN1;S4R359;S4R457 AB209562;AB451263;AB451390;ABBA01034012;AK096385;AK123117;AK291336;AK294067;AK300744;AK307962;AL354733;AMYH02021125;AY911506;BC000355;BC013220;BC014980;BC025321;BU736090;CH471089;CR456771;DA394419;DC407458;NG_029577;NM_002140;NM_031262;NM_031263;S74678;X72727;XM_005251960;XM_005251961;XM_005251963;XM_005251964;XM_005251965;XM_005251966 AAB20770;AAH00355;AAH14980;AAW84289;ABM81653;ABM84828;BAD92799;BAF84025;BAG53278;BAG53872;BAG57412;BAG62413;BAG70077;BAG70204;CAA51267;CAG33052;EAW62675;EAW62676;EAW62677;EAW62678;EAW62679;EAW62680;EAW62681;NP_002131;NP_112552;NP_112553;P61978;XP_005252017;XP_005252018;XP_005252020;XP_005252021;XP_005252022;XP_005252023 Hs.522257 1648431;1662558;1795982;5014454;5491967 D15S1328;HNRPK-1;HNRPK_448;IB2336;WI-9204 CSBP;FLJ41122;HNRPK;TUNP OTTHUMP00000021552;OTTHUMP00000021553;OTTHUMP00000021554;OTTHUMP00000021555;OTTHUMP00000021557;OTTHUMP00000021558;dC-stretch binding protein;hnRNP K;transformation up-regulated nuclear protein;transformation upregulated nuclear protein APPROVED protein-coding ENSG00000165119 HGNC:5044 02834 600712 REVIEWED 5135116 HNRNPKP3 heterogeneous nuclear ribonucleoprotein K pseudogene 3 11 11 11 p12 43429984 43437875 - 43283054 43290919 - 43261504 43269369 - 399881 ABBA01060782;AC087276;AC090588;AK126814;AMYH02024672;NR_033868 Hs.446761 2145794 D11S4557 pseudo ENSG00000251557 HGNC:42376 VALIDATED 6480973 HNRNPKP5 heterogeneous nuclear ribonucleoprotein K pseudogene 5 5 5 14877771 14878026 - 14877662 14877917 - 100874385 ABBA01020641;AC016575;AMYH02010903;NG_032511 pseudo HGNC:42378 INFERRED 7246013 HNRNPLP1 heterogeneous nuclear ribonucleoprotein L pseudogene 1 6 6 6 p24.3 8710874 8712572 - 7481097 7482828 - 7480864 7482595 - 442157 ABBA01022043;AL138878;AMYH02013061;NG_022293 pseudo HGNC:48748 INFERRED 1353271 HNRNPLL heterogeneous nuclear ribonucleoprotein L-like HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM, Aug 2008] 2 2 2 p22.1 38631387 38671235 - 38789120 38830178 - 38561978 38603036 - 1580863;6480464;8554872 12477932;14667819;15256261;15489334;15635413;16344560;16713569;18669861;18719244;19946888;20505149;21081666;21139048;21252943;21890473;21942715;22079093;22939629;22990118;23000965;23275563;24816145;8889548 92906 A8K894;B7WPG3;C9IYN3;C9JJZ7;D6W592;H7BXH8;H7C464;Q8WVV9 ABBA01075005;AC011247;AF461716;AF461722;AK000155;AK291462;AK292259;AL512692;AMYH02003627;AMYH02003628;AY236962;AY236963;BC008217;BC017480;BM972334;CH471053;DA760455;NM_001142650;NM_138394;XM_005264639;XM_005264640;XR_427000 AAH08217;AAH17480;AAN76189;AAN76190;AAQ20083;AAQ20084;AAY24302;BAF84151;BAF84948;CAH56358;EAX00368;EAX00369;EAX00370;EAX00371;EAX00372;NP_001136122;NP_612403;Q8WVV9;XP_005264696;XP_005264697 Hs.445497 2128943 SHGC-17237 HNRPLL;SRRF OTTHUMP00000128259;OTTHUMP00000128260;OTTHUMP00000203881;stromal RNA regulating factor;stromal RNA-regulating factor APPROVED protein-coding ENSG00000143889 HGNC:25127 13667 611208 VALIDATED 7246872 HNRNPLP2 heterogeneous nuclear ribonucleoprotein L pseudogene 2 15 15 15 q14 11589992 11591714 - 34780908 34782702 - 34488707 34490501 - 644390 ABBA01038530;AC027139;AMYH02030169;NG_029295 pseudo HGNC:48747 INFERRED 737263 HNRNPL heterogeneous nuclear ribonucleoprotein L Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 36129470 36145420 - 39327028 39342979 - 38836388 38852339 - 1580863;6480464;8554872 10441480;10737800;10772858;10809782;11118435;11280764;11809897;12130696;12226669;12447348;12477932;12576095;1286667;12869704;14528909;14702039;15576338;15790807;15798186;15848144;15889141;16009940;16024770;16055720;16159877;16169070;16196087;16236267;17289661;17353931;17623298;17643375;17803295;18073345;18202450;18669861;18781797;18850631;19017650;19056867;19061868;19124611;19298794;19322201;19332550;19464723;19471022;19596686;19738201;19850743;19912651;19946215;19946888;20085233;20122404;20237420;20639865;21081666;21145461;21149631;21252943;21343907;21398516;21549307;21642987;21890473;21900255;21906983;21942715;21963094;22053931;22113938;22178446;22245417;22268729;22323290;22446626;22505724;22523384;22623428;22751105;22939629;22944692;23000965;23084401;23151878;23246001;23394998;23396972;23646903;23825951;23976881;24121633;24125732;24164894;24332808;24371310;24457600;24583282;24816145;24999993;25027693;2576798;2687284;8871564;9563502;9880507 3191 B4DVF8;M0QXS5;M0QYL7;M0R1W6;P14866;Q6NTA2 AB044547;ABBA01040705;ABBA01040706;AC008982;AK092828;AK094966;AK097975;AK292115;AK298384;AK301062;AK313652;AMYH02036082;AV743120;AY927544;BC069184;BI256815;BI461733;BM997815;BQ334900;CH471126;NM_001005335;NM_001533;X16135;XR_243927 AAH69184;BAB18649;BAF84804;BAG36406;BAG60620;BAG62670;CAA34261;EAW56826;EAW56827;EAW56828;NP_001005335;NP_001524;P14866 Hs.644906 1773892;2141389;2190961;5109653;5113040 D6S1116E;MARC_12099-12100:1004643257:1;RH66616;RH70823;WI-13808 FLJ35509;HNRPL;P/OKcl.14;hnRNP-L hnRNP L APPROVED protein-coding ENSG00000104824 HGNC:5045 04360 603083 REVIEWED 7246673 HNRNPMP1 heterogeneous nuclear ribonucleoprotein M pseudogene 1 15 15 15 q15.3 21629532 21631306 - 44739773 44741547 - 44447575 44449349 - 645204 ABBA01039208;AC025043;AMYH02030340;NG_022108 pseudo HGNC:48745 INFERRED 7246855 HNRNPMP2 heterogeneous nuclear ribonucleoprotein M pseudogene 2 19 19 19 q13.32 44117086 44117681 + 47312841 47313436 + 46809584 46810179 + 390948 ABBA01040988;AC008622;AMYH02036237;NG_021765 pseudo HGNC:48746 INFERRED 7204785 HNRNPRP1 heterogeneous nuclear ribonucleoprotein R pseudogene 1 10 10 10 p12.31 21600611 21603044 - 21912856 21915305 - 21623927 21626376 - 100125387 ABBA01034494;AL161799;AMYH02022423;NG_006899;NG_027818 1682587 RH70827 pseudo HGNC:44907 INFERRED 7204935 HNRNPRP2 heterogeneous nuclear ribonucleoprotein R pseudogene 2 11 11 11 29836472 29837214 - 29690433 29691175 - 29668886 29669628 - 100421354 ABBA01060943;AL359980;AMYH02024528;NG_024324 pseudo HGNC:44908 INFERRED 7204937 HNRNPRP3 heterogeneous nuclear ribonucleoprotein R pseudogene 3 4 4 4 38310090 38310867 + 37869915 37870692 + 37868294 37869071 + 100421323 ABBA01074313;AC021106;AMYH02009031;NG_025201 pseudo HGNC:44909 INFERRED 736504 HNRNPR heterogeneous nuclear ribonucleoprotein R This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014] 1 1 1 p36.12 21965908 22000508 - 23635953 23671143 - 23309767 23344650 - 1580863;6480464;8554872 11574476;11773003;11991638;12183049;12226669;12388589;12477932;15188402;15635413;15848144;15858414;16169070;16196087;16344560;16522924;16710414;17289661;17332742;17353931;17474147;17611602;17620599;17643375;17672918;17765891;18029348;18197392;18457437;19471022;19581295;19738201;19808671;19902070;19928837;20000738;20020773;20085233;20167579;20360068;21081666;21139048;21145461;21182205;21549307;21693764;21890473;21900206;21906983;21942715;21987572;22174317;22268729;22354994;22412018;22446626;22623428;22751105;22863883;22939629;23000965;23125841;23151878;23246001;23443559;23602568;23658844;23825951;23967313;24244333;24332808;24457600;24550385;24583282;24657165;24816145;25027693;9421497 10236 B4DT28;O43390;Q0VGD6;Q6MZS5 ABBA01059868;AF000364;AK098580;AK297382;AK297405;AK300029;AK311519;AK313142;AL109936;AMYH02000489;AMYH02000490;AU126696;BC001449;BC110389;BX538163;BX640912;BX647784;CH471134;DA496215;DA773186;DQ351905;NM_001102397;NM_001102398;NM_001102399;NM_001297620;NM_001297621;NM_001297622;NM_005826;XM_005245711;XM_005245712;XM_005245713;XM_005245714 AAC39540;AAH01449;AAI10390;ABC73063;ABM83094;ABM86288;BAG35961;BAG59823;BAG59843;BAG61840;CAD98043;CAE45953;EAW95040;EAW95041;EAW95042;NP_001095867;NP_001095868;NP_001095869;NP_001284549;NP_001284550;NP_001284551;NP_005817;O43390;XP_005245768;XP_005245769;XP_005245770;XP_005245771 Hs.373763 1687105;1688166;1760205;1772441;1795984;1853759;2123744;5109709 A007E15;D10S1272E;HNRPR_987;RH80580;RH98399;SHGC-132486;SHGC-32988;WI-17999 FLJ25714;HNRPR;hnRNP R;hnRNP-R OTTHUMP00000003258;OTTHUMP00000003259;OTTHUMP00000003260 APPROVED protein-coding ENSG00000125944 HGNC:5047 06228 607201 REVIEWED 731710 HNRNPM heterogeneous nuclear ribonucleoprotein M This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 19 19 19 p13.2 8367796 8411661 + 8509460 8554002 + 8444576 8489118 + 1580863;6480464;6907045 11406629;11790298;11823437;11984006;11991638;12226669;12477932;12777385;14597422;14667819;15146197;15175327;15324660;15345747;15456888;15489334;15561718;15635413;16159877;16189514;16196087;16230076;16964243;17081983;17267499;17353931;17361185;17573780;17620599;17643375;17803295;18029348;18457437;18726360;18790094;19454010;19471022;19596686;19738201;19805454;19874820;19946888;20020773;20431927;20467437;20508642;20639865;20682791;20797634;20936779;21139048;21145461;21182205;21252943;21319273;21398516;21549307;21575865;21693764;21853274;21890473;21906983;21942715;21963094;21987572;21988832;22174317;22178446;22268729;22365833;22446626;22505724;22623428;22751105;22797925;22863883;22912744;22939629;22963397;23000965;23084401;23125841;23246001;23277564;23314748;23398456;23443559;23463506;23602568;23825951;23862649;24147044;24244333;24250222;24332808;24381081;24457600;24533984;24583282;24654937;24816145;24840202;25015289;25027693;25036637;7558047;8088785;8441656;8692693;9731529 4670 M0QY96;M0QYL3;M0QYQ7;M0QZM1;M0R019;M0R0N3;M0R0Y6;M0R2I7;M0R2T0;P52272 AA244120;AB209733;ABBA01010841;ABBA01010842;ABBA01010843;AC136469;AF061832;AK024911;AK309659;AL713781;AMYH02035444;BC000138;BC008895;BC018916;BC019580;BC038753;BC045573;BC058893;BC064588;CH471139;CN350481;CN350489;CN350526;DB478004;DB481659;HY007201;L03532;L32611;NG_029850;NM_001297418;NM_005968;NM_031203;X72018;XM_005272478;XM_005272479;XM_005272480;XM_005272481;XM_005272482;XM_005272483 AAA36192;AAC16002;AAH00138;AAH08895;AAH19580;AAH64588;AAL31359;BAD92970;CAA50897;CAD28541;EAW68919;EAW68920;EAW68921;EAW68922;EAW68923;NP_001284347;NP_005959;NP_112480;P52272;XP_005272535;XP_005272536;XP_005272537;XP_005272538;XP_005272539;XP_005272540 Hs.465808;Hs.666214 1745997;2143557;2163260;5022322;5493914 D11S2560;Hnrpm;RH125827;RH68551;WI-7190 CEAR;DKFZp547H118;HNRNPM4;HNRPM;HNRPM4;HTGR1;NAGR1;hnRNP M CEA receptor;M4 protein;N-acetylglucosamine receptor 1;heterogenous nuclear ribonucleoprotein M;heterogenous nuclear ribonucleoprotein M4;hnRNA-binding protein M4 APPROVED protein-coding ENSG00000099783 HGNC:5046 01188 160994 REVIEWED 731482 HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they form complexes with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene contains a RNA binding domain and scaffold-associated region (SAR)-specific bipartite DNA-binding domain. This protein is also thought to be involved in the packaging of hnRNA into large ribonucleoprotein complexes. During apoptosis, this protein is cleaved in a caspase-dependent way. Cleavage occurs at the SALD site, resulting in a loss of DNA-binding activity and a concomitant detachment of this protein from nuclear structural sites. But this cleavage does not affect the function of the encoded protein in RNA metabolism. At least two alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q44 218303553 218317021 - 245013602 245027827 - 244850300 244864525 - 1580863;6480464;6907045 10348913;10490622;10671544;10862698;11813259;11850402;11850407;11909954;11991638;12226669;12388589;12477932;12686378;12777385;12840015;12855701;12938929;14559993;14702039;15096513;15121898;15161980;15303970;15364944;15385968;15489334;15592455;15711563;15778465;15782174;16009940;16051665;16055720;16196087;16210410;1628625;16568080;16710414;16916646;16924231;17081983;17220478;17267499;17289661;17332742;17573780;17620012;17620599;17643375;17765891;18212063;18457437;18618731;18710935;18781797;18976975;19029303;19165527;19174163;19287380;19351595;19380743;19578763;19596686;19617346;19738201;19808671;20020773;20080577;20150277;20360068;20382278;20431927;20554522;20639865;20797629;21139048;21145461;21149631;21235343;21242313;21252943;21319273;21502505;21549307;21575865;21642987;21825151;21853274;21890473;21906983;21907836;21942715;21963094;21987572;21988832;22053931;22145905;22162999;22174317;22325991;22337587;22365833;22505724;22623428;22678713;22751105;22810585;22863883;22902625;22939629;22944692;22952844;22963397;23000965;23084401;23125841;23151878;23184937;23246001;23255807;23396972;23398456;23443559;23463506;23798571;23811339;23824909;23825951;23862649;24147044;24244333;24250222;24332808;24457600;24515614;24550385;24583282;24591637;24639526;24654937;24816145;25015289;25027693;7509195;7753047;7831290;7993898;8068679;8670859;8943344;9079809;9105675;9353307;9405365;9563502 3192 Q00839;Q5RI18;Q96BA7 ABBA01047188;ABBA01047189;AF068846;AF461014;AK095525;AK126868;AK130669;AK297119;AK307661;AMYH02003090;BC003367;BC003621;BC007950;BC015782;BC024767;BC034925;BX323046;CH236957;CH471148;NM_004501;NM_031844;X65488 AAC19382;AAH03367;AAH03621;AAH07950;AAH15782;AAH24767;AAH34925;AAP97707;ABM84242;ABM87630;ACE86474;ACE87155;BAG54384;BAG59625;CAA46472;EAW77126;EAW77127;NP_004492;NP_114032;Q00839 Hs.106212 1649369;1657565;1669126;1676692;1677584;1770733;1788606;1795986;2127111;2133869;2143343;2150113;2154178;2171279;2190989;2191381;2191561;5021702;5095054 A007A33;C86794;D14S1285;D1S3027;GDB:6028664;HNRPU;HNRPU_1518;MARC_12257-12258:1008001094:5;MARC_20677-20678:1024509130:1;MARC_26419-26420:1036768776:5;RH18125;RH92446;RH93803;SHGC-76609;SHGC-76621;SHGC-76627;WI-7584;WI-8450;ksks277 HNRPU;SAF-A;U21.1;hnRNP U;pp120 OTTHUMP00000038192;OTTHUMP00000038193;heterogeneous nuclear ribonucleoprotein U;p120 nuclear protein;scaffold attachment factor A;system n1 na+ and h+-coupled glutamine transporter;transporter protein APPROVED protein-coding ENSG00000153187 HGNC:5048 04185 602869 REVIEWED 2303452 HNRNPU-AS1 HNRNPU antisense RNA 1 ASSOCIATED WITH Cytochrome-c Oxidase Deficiency (inferred); INTERACTS WITH valproic acid 1 1 1 q44 218293891 218300194 - 245003940 245010243 - 244840638 244846941 - 6480464;8554872 12477932;14702039;16344560;22678713 284702 Q7Z4P1 AA773071;ABBA01047189;AF448858;AK054764;AK095297;AL138273;AMYH02003090;BC035431;BX323046;DA733532;NR_026778 AAP97733 Hs.411490;Hs.743421 1649893;1666558;1675561 RH48131;RH91550;SHGC-76622 C1orf199;FLJ30202;NCRNA00201 APPROVED ncrna ENSG00000188206 HGNC:27651 PREDICTED 7375939 HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2) and BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Mar 2011] 11 11 62457734 62494856 - 62690262 62727384 - 6480464;8554872 14702039;15146197;20967262 100534595 H3BQZ7 ABBA01003238;ABBA01003239;ABBA01003240;ABBA01003241;AK122942;AMYH02024896;AMYH02024897;AP001160;AP001458;CN346952;NR_037946 BAG53809 Hs.533709;Hs.657058 1739963;2127309;2167540 D11S4063;D11S4928;RH12527 APPROVED ncrna HGNC:49189 VALIDATED 1352653 HNRNPUP1 heterogeneous nuclear ribonucleoprotein U pseudogene 1 14 14 14 q21.2 23629745 23630395 + 43769463 43770113 + 43300260 43300910 + 319134 ABBA01018025;AL583809;AMYH02029086;NG_002512 1770733;2154178;2191381 A007A33;D14S1285;MARC_20677-20678:1024509130:1 HNRPUP APPROVED pseudo HGNC:19931 INFERRED 1348517 HOAC hypoacusis 2 (autosomal recessive) 2791656 3193 HGNC:5049 1316659 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U-like 1 This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus E1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by E1B-55kDa in adenovirus-infected cells. Two transcript variants encoding different isoforms have been found for this gene. Additional variants have also been found, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 38568542 38613960 + 41768391 41813811 + 41262486 41307906 + 6480464;8554872 10668806;11073998;11513728;12226669;12477932;12489984;14702039;15144186;15231748;15242333;15302935;15489334;15907477;16055720;16169070;16690874;17081983;17121608;17332742;17353931;17643375;18480432;18599554;19056482;19166692;19322201;19542561;19710015;19745842;19913121;20020773;20211142;20360068;20628086;21083500;21139048;21145461;21252943;21890473;21906983;21956701;21987572;21988832;22365830;22365833;22379092;22505724;22586326;22810585;22863883;22939629;22990118;23000965;23151878;23577092;23824909;23825951;23862649;24332808;24457600;24550385;24591637;24816145;8125298;8889548;9733834 11100 B7Z4B8;M0QYG9;M0QYI8;M0QYM5;M0QYZ0;M0QZV6;M0R0K8;M0R203;M0R247;M0R3F1;Q9BUJ2 AA479761;ABBA01040803;AC011462;AC011510;AJ007509;AK001229;AK021455;AK022863;AK023006;AK127057;AK225850;AK290729;AK291315;AK291762;AK297127;AK308078;AK308156;AL050146;AMYH02036132;BC000860;BC002564;BC004242;BC009988;BC014232;BC027713;BM976139;CH471126;CS674266;CS805739;DC318049;DC347248;DC366321;DC403921;HC919736;HC919947;NM_007040;NM_144732;XM_005258459;XM_005258461;XM_005258462;XM_005258463;XM_005258464;XM_005258465;XM_005258466 AAH02564;AAH04242;AAH09988;AAH14232;AAH27713;ACE86458;ACE86493;ACE87139;ACE87174;BAB13831;BAC86806;BAF83418;BAF84004;BAF84451;BAG50872;BAG51129;BAH12504;CAA07548;CAB43291;CAP12293;CAP40174;CBN73465;CBN73470;EAW57024;EAW57025;EAW57026;EAW57027;EAW57028;EAW57029;NP_008971;NP_653333;Q9BUJ2;XP_005258516;XP_005258518;XP_005258519;XP_005258520;XP_005258521;XP_005258522;XP_005258523 Hs.155218;Hs.718642 1644538;1662676;1857077;2110455;2116911;2138338;2166941;5015619;5015961;5024327;5024756;5037552 D11S3114;D15S1477;D8S2279;HNRPUL1__6581;RH16532;RH36144;RH36197;RH45628;RH80030;SHGC-33210;STS-W84423;WI-20004 E1B-AP5;E1BAP5;FLJ12944;HNRPUL1 E1B 55kDa associated protein 5;E1B-55 kDa-associated protein 5;E1B-55kDa-associated protein 5;adenovirus early region 1B-associated protein 5;heterogeneous nuclear ribonucleoprotein U-like protein 1 APPROVED protein-coding ENSG00000105323 HGNC:17011 10428 605800 REVIEWED 1321399 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010] 10 10 10 q24.2 93081405 93109870 + 99344102 99372559 + 97584345 97612802 + 737633;6480464;7240710;8554872;8699517 12477932 14702039;15164054;15489334;17207965;20797690;20877624;21896830;21998747;22232173;22286219;22391140;22781098 112817 H7BY76;Q86XE5 ABBA01021799;ABBA01021800;AK094791;AK289440;AL355315;AMYH02023611;BC011916;BC045550;BC057821;CH471066;NG_027922;NM_001134670;NM_138413 AAH11916;AAH45550;AAH57821;ACE86528;ACE86538;ACE87207;ACE87218;ADQ32501;BAF82129;EAW49912;EAW49913;EAW49914;NP_001128142;NP_612422;Q86XE5 Hs.180346 1679025;1682443;1785144;2137905;2153196;2159131;5494144 RH140725;RH41894;RH48677;RH92617;RH94255;SHGC-155735;STS-R89840 C10orf65;DHDPS2;DHDPSL;FLJ37472;FLJ56960;HP3;NPL2 4-hydroxy-2-oxoglutarate aldolase, mitochondrial;DHDPS-like protein;N-acetylneuraminate pyruvate lyase 2 (putative);OTTHUMP00000020215;OTTHUMP00000020217;dihydrodipicolinate synthase-like;dihydrodipicolinate synthase-like, mitochondrial;dihydrodipicolinate synthetase homolog 2;probable 2-keto-4-hydroxyglutarate aldolase;probable 4-hydroxy-2-oxoglutarate aldolase, mitochondrial;probable KHG-aldolase;protein 569272 APPROVED protein-coding ENSG00000241935 HGNC:25155 12584 613597;613616 REVIEWED 1354175 HOMER2 homer homolog 2 (Drosophila) This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011] 15 15 15 q24.3 60965171 61062906 + 83517729 83654905 - 82841086 82986161 - 633024;633023;6480464;6907045 9808458;9808459 10653696;12223488;12378015;12477932;12676529;12815733;14528310;15489334;15944415;16314758;18029348;18218901;18387811;19086053;19914345;20333726;20531441;20921022;21103663;21636702;21832049;21885651;21988832;24816145;8889548;9069287 9455 H0YNR9;Q9NSB8 ABBA01029430;ABBA01029431;ABBA01029432;AC022558;AC044907;AF081530;AF093263;AF093264;AK292772;AMYH02030916;AMYH02030917;AMYH02030918;AMYH02030919;AMYH02030920;AMYH02030921;AMYH02030922;AMYH02030923;AY062316;BC012109;BI666912;CB321822;CH471188;CR936744;KF456106;NG_029435;NM_004839;NM_199330;XM_005272448;XM_005272449;XM_006720775;XM_006720776;Y19025;Y19026;Y19027;Y19028 AAC71027;AAC71028;AAD13748;AAH12109;AAL65744;ABM83250;ABM86452;BAF85461;CAB75537;CAB75538;CAB75539;CAB75540;EAW62435;EAW62436;NP_004830;NP_955362;Q9NSB8;XP_005272505;XP_005272506;XP_006720838;XP_006720839 Hs.578443;Hs.729618 1659833;1665558;1689596;1715379;2108151 A002T02;G17738;HOMER2_8942;RH120522;RH98736 ACPD;CPD;HOMER-2;HOMER2A;HOMER2B;Vesl-2 cupidin;homer homolog 3;homer protein homolog 2;homer, neuronal immediate early gene, 2 APPROVED protein-coding ENSG00000103942 HGNC:17513 07269 604799 REVIEWED 1349435 HOMER2P1 homer homolog 2 (Drosophila) pseudogene 1 14 14 q32.33 106914865 106917231 - 106458942 106461306 - 317768 AB019438;ABBA01074109;AC244452;NG_001019 pseudo HGNC:20336 VALIDATED 1606938 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U-like 2 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN membrane; nucleus (ortholog); INTERACTS WITH genistein; hydrogen peroxide; valproic acid 11 11 11 q12.3 59810573 59823425 - 62480097 62494857 - 62712625 62727385 - 6480464 12477932;14702039;16964243;17081983;17643375;19946888;20020773;20360068;21139048;21145461;21252943;21890473;21906983;21987572;22178446;22365830;22751105;22863883;22939629;22990118;23000965;23151878;23443559;24250222;24457600;24591637;24778252;24816145;8068679 221092 Q1KMD3 ABBA01003240;ABBA01003241;AI992017;AMYH02024897;AP001160;AP001458;BC029105;BC032369;CH471076;DQ470474;NM_001079559 AAI67844;ABF00125;EAW74084;NP_001073027;Q1KMD3 Hs.657058 2125362 D11S2291E DKFZp762N1910;HNRPUL2;SAF-A2 OTTHUMP00000236813;heterogeneous nuclear ribonucleoprotein U-like protein 2;scaffold-attachment factor A2 protein-coding ENSG00000214753 HGNC:25451 VALIDATED 1352201 HOMER2P2 homer homolog 2 (Drosophila) pseudogene 2 14 14 q32.33 106742587 106744487 - 106285995 106287892 - 317769 AB019439;ABBA01074094;AC245166;NG_001019 pseudo HGNC:20334 VALIDATED 1354218 HOMER1 homer homolog 1 (Drosophila) This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. [provided by RefSeq, Jul 2008] 5 5 5 q14.2 74569550 74709526 - 78669647 78809659 - 79373824 79513836 - 633024;633023;1580863;6480464;6907045 9808458;9808459 10433269;10464340;10833436;10851183;11418862;11679592;12107410;12223488;12477932;12810060;12815733;12887973;14505576;14528310;14660561;15033484;15489334;15673434;15691715;15745950;16189514;16314758;16979624;18193045;19086053;19165527;19376111;19447967;19648775;20333726;20360068;20379614;20598711;20673876;20926133;21139048;21172614;21885651;22558107;22749857;23685007;23821062;24816145;8125298;8889549;9069287 9456 Q5U5K4;Q86YM6;Q86YM7 AA029302;ABBA01062013;ABBA01062014;ABBA01062015;ABBA01062016;ABBA01062017;AC020898;AC093270;AF093262;AK223471;AK312481;AMYH02011644;AMYH02011645;AMYH02011646;AMYH02011647;AY189939;AY189940;AY189941;BC015502;BC047438;BT009846;BU933636;CA396459;CB052446;CH471084;CS301484;NM_001277077;NM_001277078;NM_004272;Y17829 AAC71026;AAH15502;AAH47438;AAO38999;AAO39000;AAO39001;AAP88848;ABM82204;ABM85392;BAD97191;BAG35385;CAA76877;CAK31441;EAW95835;EAW95836;NP_001264006;NP_001264007;NP_004263;Q86YM7 Hs.591761 1654050;1688050;1726599;1776583;1847242;2108149;2146173;5092956 A009D02;D5S2634;G32434;G62532;HOMER1_8943;RH80198;SHGC-57966;STS-H49335 SYN47;Ves-1 HOMER;HOMER1A;HOMER1B;HOMER1C;OTTHUMP00000165782;OTTHUMP00000165783;OTTHUMP00000222577;homer protein homolog 1;homer, neuronal immediate early gene, 1;homer-1 APPROVED protein-coding HGNC:17512 09211 604798 VALIDATED 735425 HOMEZ homeobox and leucine zipper encoding ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH copper(2+) sulfate; dioxygen; trichostatin A 14 14 14 q11.2 3605546 3618011 - 23742844 23762862 - 23273635 23286100 - 6480464;8554872 10718198;11948623;12477932;12925734;14702039;15302935;15489334;18029348;19471022;20422016;21890473;23574532;23718855;24722188 57594 Q8IX15;U3KPW8 AB037864;ABBA01061318;AF463523;AK296927;AL049829;AMYH02028868;BC045733;BC130392;CH471078;DC398645;NM_020834 AAI30393;AAN76991;BAA92681;BAG59479;EAW66175;EAW66176;EAW66177;NP_065885;Q8IX15 Hs.632332 5037552 D8S2279 KIAA1443 homeobox and leucine zipper protein Homez;homeodomain leucine zipper-containing factor;homeodomain-leucine zipper protein homez protein-coding HGNC:20164 12167 608119 VALIDATED 1320916 HOOK2 hook microtubule-tethering protein 2 Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004] 19 19 19 p13.2 12763527 12776144 - 12873817 12889248 - 12763003 12778428 - 6480464;8554872 11238449;12477932;15489334;15882442;16189514;17140400;17540036;18799622;19273536;19793914;21145461;21998199;22558309;23443559;23956138;24722188;9927460 29911 K7EJ48;K7EJ65;K7EJA7;K7EK29;K7EMG7;K7EMR5;K7ENU5;K7EQA2;Q96ED9 ABBA01029774;AC018761;AF044924;AK129729;AMYH02035556;BC012443;CH471106;DB474423;NM_001100176;NM_013312;XM_005259873;XM_005259874;XM_005259876;XM_005259877;XM_005259878 AAC09299;AAH12443;ABM82265;ABM84286;ABM85447;ABM87678;BAC85229;EAW84305;EAW84306;NP_001093646;NP_037444;Q96ED9;XP_005259930;XP_005259931;XP_005259933;XP_005259934;XP_005259935 Hs.30792 2159501;5015619;5015861;5117897;7185938 D10S16;D11S3114;GDB:631813;RH77914 FLJ26218;HK2;h-hook2;hHK2 hook homolog 2 APPROVED protein-coding ENSG00000095066 HGNC:19885 09698 607824 VALIDATED 1346925 HOOK3 hook microtubule-tethering protein 3 Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004] 8 8 8 p11.21 41700858 41834504 + 42752033 42885682 + 42896890 43030539 + 1580863;6480464 11238449;12477932;12950921;14702039;15075236;15489334;15882442;16964243;17237231;17639057;18029348;18799622;20152126;21139048;21145461;22939629;24250222;24816145;8889548;9927460 84376 H0YDK4;H0YDM4;H0YE69;Q86VS8 ABBA01021176;ABBA01021177;ABBA01021178;ABBA01021179;ABBA01021180;AC009634;AC110275;AK055620;AK090540;AK309224;AMYH02017913;AMYH02017914;BC012030;BC013679;BC023658;BC048304;BC056146;BM716064;CH471080;NM_032410 AAH48304;AAH56146;BAC03473;EAW63196;EAW63197;EAW63198;EAW63199;EAW63200;NP_115786;Q86VS8 Hs.162852 1679858;1689891;1698136;2111129;2219808;5014051;5015404;5016478;5016596;5016700;5022200;5022463;5023327;5024413;5037552 D3S1673;D8S2278;D8S2279;D8S362E;GDB:434012;GDB:631802;HOOK3__6582;L17705;L17877;L18023;L18426;RH102601;RH28425;RH35928;RH79802 FLJ31058;HK3;h-hook3;hHK3 OTTHUMP00000229200;hook homolog 3 APPROVED protein-coding ENSG00000168172 HGNC:23576 09699 607825 VALIDATED 731655 HOMER3 homer homolog 3 (Drosophila) This gene encodes a member of the HOMER family of postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I metabotropic glutamate receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as neuronal signaling, T-cell activation and trafficking of amyloid beta peptides. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] 19 19 19 p13.11 18944833 18956865 - 19040010 19052041 - 18929201 18941258 - 633024;6480464;6907045 9808459 10653696;12223488;12477932;12815733;14505576;14645007;15057824;15146197;15489334;16098226;16189514;16979624;18218901;18387811;19060904;19345194;20360068;20693425;21832049;21988832;22486777;23602568;23725168;9069287;9808458 9454 B2RA10;M0QYF9;M0QZN1;M0R2T8;M0R2U7;Q9NSC5 ABBA01051298;ABBA01051299;ABBA01051300;AC002985;AF093265;AK124450;AK313995;AL529052;AMYH02035745;AW606967;BC012113;BM915739;BT019464;CH471106;CN284196;NG_033947;NM_001145721;NM_001145722;NM_001145724;NM_004838;NR_027297;XM_006722943;XM_006722944;Y17573;Y18894;Y18895;Y18896 AAB81545;AAC71029;AAH12113;AAV38271;ABM83483;ABM86697;BAG36707;BAG54040;CAB75536;CAB75543;CAB75544;CAB75545;EAW84762;EAW84763;EAW84764;EAW84765;NP_001139193;NP_001139194;NP_001139196;NP_004829;Q9NSC5;XP_006723006;XP_006723007 Hs.720208 5016352 L30021 HOMER-3;VESL3 Homer, neuronal immediate early gene, 3;homer protein homolog 3 APPROVED protein-coding ENSG00000051128 HGNC:17514 07270 604800 REVIEWED 1320626 HOOK1 hook microtubule-tethering protein 1 This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p32.1 58569347 58630858 + 60280458 60342050 + 59814786 59876378 + 6480464 11238449;12075009;12477932;14702039;15471887;15489334;15823567;15882442;16189514;16710414;16964243;17043677;17353931;18799622;20379614;21139048;21906983;23383273;23589492;9927460 51361 B1AK95;Q9UJC3 AA576610;ABBA01074647;AC113175;AF044923;AK027250;AK097735;AK098561;AK292314;AK301768;AL035416;AMYH02001106;AMYH02001107;AMYH02001108;BC011621;BC107857;CH471059;NM_015888;XM_005270922;XM_006710676;XR_246271 AAC09298;AAH11621;AAI07858;ABM82883;ABM86069;BAF85003;BAG63227;EAX06615;EAX06616;NP_056972;Q9UJC3;XP_005270979;XP_006710739 Hs.378836 1646647;1669597;1708336;1848530;2132008;2153094;2166328 AL009539;D1S3350;D1S3556;D1S3574;SHGC-2679;SHGC-74905;SHGC-81097 HK1;MGC10642;h-hook1;hHK1 OTTHUMP00000010548;hook homolog 1 APPROVED protein-coding ENSG00000134709 HGNC:19884 07428 607820 REVIEWED 1603377 HOPX HOP homeobox The protein encoded by this gene is a homeodomain protein that lacks certain conserved residues required for DNA binding. It was reported that choriocarcinoma cell lines and tissues failed to express this gene, which suggested the possible involvement of this gene in malignant conversion of placental trophoblasts. Studies in mice suggest that this protein may interact with serum response factor (SRF) and modulate SRF-dependent cardiac-specific gene expression and cardiac development. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Feb 2009] 4 4 4 q12 55011890 55053984 - 57514154 57547874 - 56647988 56681709 - 6480464;8554872 11076863;12297045;12477932;12573257;12759545;12975471;14516659;14522464;14532270;14702039;15213722;15307938;15381369;15457851;15489334;15489336;16344560;16381901;16939210;17192267;17498662;17576768;18052042;18234960;18507846;19173292;20211142;20226564;20228841;21061432;21256618;21382376;21700222;22824801;22904674;23036489;23707782 84525 Q9BPY8 AA504137;AB019573;AB059408;AB059409;AB059410;ABBA01003431;AC108215;AF454763;AF492675;AF492676;AF492677;AF492678;AF492679;AF492680;AF492681;AK096707;AK123318;AK289707;AMYH02009259;AW955211;BC014225;CB996541;CH471057;CK002567;DA512059;DB180848;EB386856;NM_001145459;NM_001145460;NM_032495;NM_139211;NM_139212;XM_005265783;XM_006714051;XM_006714052;XM_006714053 AAH14225;AAL56613;AAM46827;AAM46828;AAM46829;AAM46830;AAM46831;AAM46832;AAM46833;ABM83119;ABW03470;BAB40926;BAB40927;BAB40928;BAF82396;CAL38525;EAX05503;EAX05505;EAX05511;NP_001138931;NP_001138932;NP_115884;NP_631957;NP_631958;Q9BPY8;XP_005265840;XP_006714114;XP_006714115;XP_006714116 Hs.619396 1668364;1775234;1775236;1854067;1858568;2125312;2179114;5015619;5015869;5015959;5016596;5022578;5092836 A006D37;A006J04;D10S2448;D11S3114;D1S1423;D4S2787;D4S2900;G20731;G32360;G34373;GDB:313261;GDB:631802;RH17813 HOD;HOP;LAGY;MGC20820;NECC1;OB1;SMAP31;TOTO CAMEO;OTTHUMP00000158969;OTTHUMP00000158970;OTTHUMP00000219000;OTTHUMP00000219001;OTTHUMP00000219002;OTTHUMP00000219003;OTTHUMP00000219004;OTTHUMP00000219005;OTTHUMP00000221050;OTTHUMP00000244618;OTTHUMP00000244619;OTTHUMP00000244620;OTTHUMP00000244621;OTTHUMP00000244622;homeodomain-only protein;lung cancer-associated Y protein;not expressed in choriocarcinoma clone 1;not expressed in choriocarcinoma protein 1;odd homeobox 1 protein;odd homeobox protein 1 APPROVED protein-coding ENSG00000171476 HGNC:24961 06280 607275 REVIEWED 1346134 HORMAD1 HORMA domain containing 1 This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 1 1 1 q21.3 123786303 123808779 - 150670535 150693372 - 150698059 150720896 - 737633;6480464;8554872 12477932 11076863;11230166;11256614;14702039;15489336;15567723;15999985;16331256;16381901;18029348;18089785;22407170;22776561;23585552 84072 Q86X24;X6R751;X6RG95 AA991355;ABBA01049352;ABBA01049353;AK097390;AK098633;AL136755;AL356292;AMYH02001858;AY626344;BC033014;BC047406;BU570274;CH471121;CR533505;HC044603;NM_001199829;NM_032132;XM_006711569;XM_006711570;XM_006711571 AAH33014;AAH47406;AAT45740;BAG53463;CAB66689;CAG38536;CAL37439;CAL37857;CBH30631;EAW53520;EAW53521;EAW53522;EAW53523;EAW53524;EAW53525;NP_001186758;NP_115508;Q86X24;XP_006711632;XP_006711633;XP_006711634 Hs.298312 CT46;DKFZp434A1315;RP11-363I22.1 HORMA domain containing protein;HORMA domain-containing protein 1;NOHMA;OTTHUMP00000032933;OTTHUMP00000032934;OTTHUMP00000032935;cancer/testis antigen 46;newborn ovary HORMA protein APPROVED protein-coding ENSG00000143452 HGNC:25245 11396 609824 REVIEWED 1348799 HORMAD2 HORMA domain containing 2 INVOLVED IN meiotic nuclear division (ortholog); meiotic sister chromatid cohesion (ortholog); FOUND IN chromosome (ortholog); nucleus (ortholog); INTERACTS WITH ciguatoxin CTX1B (ortholog); furan (ortholog) 22 22 22 q12.2 14276181 14372762 + 30476453 30573064 + 30080208 30177073 + 737633;6480464 12477932 15461802;19915574;20473688;21399633;22893617;23128233 150280 F8WES9;Q8N7B1 ABBA01055291;ABBA01055292;AC002378;AC003071;AK098703;AMYH02038213;AMYH02038214;BC030013;CH471095;CR456341;CS568998;NM_152510;XM_006724146;XM_006724147 AAH30013;BAC05388;CAG30227;CAK54483;CAK54782;CAN59692;EAW59859;EAW59860;NP_689723;Q8N7B1;XP_006724209;XP_006724210 Hs.120391 1683671;2120845;2172791 D22S268;D22S596;RH94370 CT46.2;MGC26710 HORMA domain-containing protein 2;OTTHUMP00000198644;OTTHUMP00000198645 protein-coding ENSG00000176635 HGNC:28383 13668 PROVISIONAL 2293809 HOTAIR HOX transcript antisense RNA This gene is located within the Homeobox C (HOXC) gene cluster on chromosome 12 and is co-expressed with HOXC genes. It represses transcription of HOXD genes on chromosome 2 in trans. This gene is shuttled from chromosome 12 to chromosome 2 by a component of Polycomb Repressive Complex 2 (PRC2). This gene interacts with both PRC2 and lysine specific demethylase 1 (LSD1) complexes through its 5' and 3' domains, respectively, and serves as a scaffold to assemble PRC2 and LSD1 complexes to the HOXD gene cluster. It couples H3K27 methylation and H3K4 demethylation for epigenetic silencing of HOXD genes in multiple tissues. This gene is highly expressed in multiple tumors. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Feb 2013] 12 12 12 q13.13 54005698 54012116 - 54356092 54368740 - 53962308 53974956 - 6480464 16344560;17604716;17604720;19571010;20393566;20616235;20864820;20930520;21112873;21123648;21138898;21278485;21327457;21345374;21393997;21496275;21507358;21637793;21732412;21862635;21963238;22258453;22289527;22375145;22386265;22614017;22659877;23124417;23141928;23292722;23375982;23595112;23624935;23668363;23717443;23743197;23862139;23888369;23898077;24022190;24103700;24118380;24151120;24155936;24203894;24258260;24285342;24320048;24326307;24533973;24583926;24662839 100124700 AA399272;ABBA01008361;AC012531;AK123741;AMYH02026528;BF109906;DA567507;DA905601;DA907429;DQ926657;HG504799;HG504800;HG504801;HG504802;HG504803;HG975398;NR_003716;NR_047517;NR_047518 Hs.197076 FLJ41747;HOXC-AS4;HOXC11-AS1;NCRNA00072 HOXAS APPROVED ncrna ENSG00000228630 HGNC:33510 611400 REVIEWED 2792833 HOTTIP HOXA distal transcript antisense RNA INTERACTS WITH potassium dichromate (ortholog) 7 7 7 p15.2 27228994 27231387 + 27240040 27246139 + 27200421 27206520 + 6480464 14702039;21423168;21483457;24018042;24114970;24342142;24381249 100316868 ABBA01056762;AC004080;AK093987;AMYH02015408;CH236948;GU724873;HG500134;HG500135;LK939038;NR_037843 Hs.199486 1803594;1806700;1806956;1808252;2059192;2059196;2059198;2059200;2059202;2059204;2059206;2059208;2059210;2059212;2059214;2192264 ECD02701;ECD04307;ECD04443;ECD05107;REN100771;REN100773;REN100774;REN100775;REN100776;REN100777;REN100778;REN100779;REN100780;REN100781;REN100782;stSG609402 FLJ36668;HOXA-AS6;HOXA13-AS1;NCRNA00213 APPROVED ncrna HGNC:37461 614060 VALIDATED 8663289 HOXA-AS2 HOXA cluster antisense RNA 2 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 7 7 7 p15.2 27138977 27152374 + 27149730 27168372 + 27107965 27128760 + 6480464 12477932;14702039;21112873;23649634 285943 ABBA01056757;ABBA01056758;ABBA01056759;AC004079;AC004080;AC010990;AK056230;AK311383;AMYH02015407;AMYH02015408;BC035889;BE873349;BG248392;HG500112;HG500113;HG500115;HG975401;HY010098;NR_122069;XR_426152;XR_426153;XR_426154;XR_428119;XR_428120;XR_428121;XR_428122;XR_428123;XR_428124;XR_432132;XR_432133;XR_432134;XR_432135;XR_432136 Hs.714774;Hs.721126 1658772;1667731;1768900;1798440;1798464;1798490;1799252;1799862;1807360;1809084;1809774;1810418;1810696;1811946;1814560;1814562;1819518;1825278;1826434;1826436;1826510;1828680;2058388;2058390;2058392;2058394;2058396;2058398;2058400;2058402;2058404;2058406;2058408;2058410;2058420;2058422;2058424;2058426;2058428;2058430;2058432;2058434;2058436;2058438;2058440;2058442;2058444;2058454;2058456;2058458;2058460;2058462;2058464;2058466;2058468;2058470;2058472;2058474;2058476;2058478;2058488;2058490;2058492;2058494;2058496;2058498;2058500;2058502;2058504;2058506;2058508;2058510;2058516;2058518;2058520;2058522;2058556;2058558 A008T18;ECD00057;ECD00069;ECD00083;ECD00474;ECD00785;ECD04651;ECD05530;ECD05879;ECD06202;ECD06343;ECD06977;ECD08310;ECD08311;ECD10826;ECD13744;ECD14331;ECD14332;ECD14369;ECD15467;REN100369;REN100370;REN100371;REN100372;REN100373;REN100374;REN100375;REN100376;REN100377;REN100378;REN100379;REN100380;REN100385;REN100386;REN100387;REN100388;REN100389;REN100390;REN100391;REN100392;REN100393;REN100394;REN100395;REN100396;REN100397;REN100402;REN100403;REN100404;REN100405;REN100406;REN100407;REN100408;REN100409;REN100410;REN100411;REN100412;REN100413;REN100414;REN100419;REN100420;REN100421;REN100422;REN100423;REN100424;REN100425;REN100426;REN100427;REN100428;REN100429;REN100430;REN100433;REN100434;REN100435;REN100436;REN100453;REN100454;RH16603;SGC33676 HOXA3as ncrna ENSG00000253552 HGNC:43745 VALIDATED 5688579 HOXA-AS3 HOXA cluster antisense RNA 3 ASSOCIATED WITH Lung Neoplasms (inferred) 7 7 7 p15.2 27168921 27184486 + 27179983 27195547 + 27140364 27155928 + 8554872 14702039;21112873 100133311 ABBA01056759;ABBA01056760;AC004080;AK091933;AK092154;AK096334;AMYH02015408;HG500118;HG500119;HG975402;NR_038831;NR_038832 Hs.610216 1666132;1799278;1799654;1800016;1800050;1800416;1800798;1800918;1800972;1802548;1802798;1803010;1803464;1803876;1803878;1804134;1806408;1807362;1810698;1812448;1813974;1814922;1815326;1816554;1817224;1817672;1820414;1822898;1827580;1828072;1829830;1829888;1837816;1843100;2058564;2058566;2058568;2058570;2058572;2058574;2058576;2058578;2058580;2058582;2058584;2058586;2058588;2058590;2058592;2058594;2058596;2058598;2058600;2058602;2058604;2058606;2058608;2058610;2058612;2058614;2058616;2058618;2058620;2058622;2058624;2058626;2058628;2058630;2058632;2058634;2058636;2058638;2058640;2058642;2058644;2058646;2058648;2058650;2058652;2058654;2058656;2058658;2058660;2058662;2058664;2058666;2058668;2058670;2058672;2058674;2058676;2058678;2058680;2058682;2058684;2058686;2058688;2058690;2058692;2058694;2058696;2058698;2058700;2058702;2058704;2058706;2058708;2058710;2058712;2058714;2058716;2058718;2058720;2058722;2058724;2058726;2058728;2058730;2058732;2058734;2058736;2058738;2058740;2058742;2058744;2058746;2058748;2058750;2058752;2058754;2058756;2058758;2058760;2058762;2058764;2058766;2058768;2058770;2058772;2058774;2058776;2058778;2058780;2058782;2058784;2058786;2058788;2058790;2058792;2058794;2058796;2058798;2058800;2058802;2058804;2058806;2135969;2135971;2138916;2192164;2192166;2192168;2192170;2192172;2192174;2192176;2192178;2192180;2192182;2192184;2192186;2192188;2192190;2192192;2192194;2192196;2192198;2192202;2192204;7185490 D7S150;ECD00487;ECD00681;ECD00863;ECD00880;ECD01068;ECD01261;ECD01324;ECD01351;ECD02161;ECD02287;ECD02396;ECD02629;ECD02851;ECD02852;ECD02986;ECD04160;ECD04652;ECD06344;ECD07231;ECD08014;ECD08492;ECD08699;ECD09319;ECD09662;ECD09888;ECD11282;ECD12537;ECD14908;ECD15159;ECD16048;ECD16077;ECD20078;ECD22758;G10625;HOX1;REN100457;REN100458;REN100459;REN100460;REN100461;REN100462;REN100463;REN100464;REN100465;REN100466;REN100467;REN100468;REN100469;REN100470;REN100471;REN100472;REN100473;REN100474;REN100475;REN100476;REN100477;REN100478;REN100479;REN100480;REN100481;REN100482;REN100483;REN100484;REN100485;REN100486;REN100487;REN100488;REN100489;REN100490;REN100491;REN100492;REN100493;REN100494;REN100495;REN100496;REN100497;REN100498;REN100499;REN100500;REN100501;REN100502;REN100503;REN100504;REN100505;REN100506;REN100507;REN100508;REN100509;REN100510;REN100511;REN100512;REN100513;REN100514;REN100515;REN100516;REN100517;REN100518;REN100519;REN100520;REN100521;REN100522;REN100523;REN100524;REN100525;REN100526;REN100527;REN100528;REN100529;REN100530;REN100531;REN100532;REN100533;REN100534;REN100535;REN100536;REN100537;REN100538;REN100539;REN100540;REN100541;REN100542;REN100543;REN100544;REN100545;REN100546;REN100547;REN100548;REN100549;REN100550;REN100551;REN100552;REN100553;REN100554;REN100555;REN100556;REN100557;REN100558;REN100559;REN100560;REN100561;REN100562;REN100563;REN100564;REN100565;REN100566;REN100567;REN100568;REN100569;REN100570;REN100571;REN100572;REN100573;REN100574;REN100575;REN100576;REN100577;REN100578;RH47950;RH48711;stSG609339;stSG609340;stSG609341;stSG609342;stSG609343;stSG609344;stSG609345;stSG609346;stSG609348;stSG609349;stSG609350;stSG609352;stSG609353;stSG609354;stSG609355;stSG609356;stSG609357;stSG609358;stSG609360;stSG609361 FLJ34614;FLJ34835;FLJ39015;HOXA6as APPROVED ncrna ENSG00000254369 HGNC:43748 VALIDATED 5133393 HOTAIRM1 HOXA transcript antisense RNA, myeloid-specific 1 This non-coding locus is located in the HOX gene cluster. Transcription of this locus is induced by retinoic acid, and transcripts likely function in regulation of myelopoiesis through transcriptional activation of several genes in the HOXA cluster, in addition to several beta-2 integrins. [provided by RefSeq, Jan 2013] 7 7 7 p15.2 27124921 27128816 + 27135713 27139877 + 27096094 27100258 + 19144990;21112873 100506311 ABBA01056757;AC004079;AI123748;AMYH02015407;BC031342;GQ479958;HG500101;HG500102;HG975399;NG_033087;NR_038366;NR_038367 Hs.445239 1647923;1685123;1777557;1800158;1802726;1802864;1803266;1803648;1804446;2058254;2058256;2058258;2058260;2058262;2058264;2058266;2058268;2058270;2058272;2058274;2058276;2058278;2058280;2058284;2058286;2058288;2058290;2058292;2058294;2058296;2058298;2058300;2058302;2058304;2058306;2058308;2058310;2131749 ECD00936;ECD02250;ECD02320;ECD02529;ECD02730;ECD03147;REN100302;REN100303;REN100304;REN100305;REN100306;REN100307;REN100308;REN100309;REN100310;REN100311;REN100312;REN100313;REN100314;REN100315;REN100317;REN100318;REN100319;REN100320;REN100321;REN100322;REN100323;REN100324;REN100325;REN100326;REN100327;REN100328;REN100329;REN100330;RH36558;RH93688;SHGC-35668;STS-U10421 HOXA-AS1;HOXA1-AS1;NCRNA00179 APPROVED ncrna ENSG00000233429 HGNC:37117 REVIEWED 8662079 HORMAD2-AS1 HORMAD2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 22 22 q12.2 30405128 30476464 - 30009139 30080475 - 8554872 22197929;25144376 101929664 ABBA01055288;ABBA01055289;ABBA01055290;ABBA01055291;AC003071;AMYH02038210;AMYH02038211;AMYH02038212;AMYH02038213;BG618381;HG512202;HG512204;NR_110541;XR_244420;XR_249035;XR_254080;XR_425323;XR_425324;XR_430438;XR_430439;XR_433699;XR_433700 Hs.592197 MTMR3-AS1 ncrna HGNC:50729 VALIDATED 737614 HOXA1 homeobox A1 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008] 7 7 7 p15.3 27121549 27124562 - 27132612 27135625 - 27092993 27096006 - 1358730;1580863;6480464;7240710;8554872;8699517 14960295 10529419;11070089;11091361;11840501;11857506;12210285;12349873;12477932;12482855;12690205;12853948;12908836;15489334;16155570;16168961;16189514;16344560;16373333;16528738;16597639;17131398;17167333;17171652;17213808;17875913;17967182;18276758;18412118;18482256;19018235;19018953;19086053;19336002;19598235;1973146;20227628;20678259;21106538;21957483;21980499;21988832;22020899;22407312;22498108;22864671;22950449;23088713;23321646;23435427;23455924;24312487;24559685;24789793;7488013;7622051;8646877;9463349;9582372 3198 E7ERT8;P49639 ABBA01056757;AC004079;AK308067;AK313514;AMYH02015407;BC032547;CH236948;CH471073;DB246535;FB571437;FB571439;NG_011813;NG_033087;NM_005522;NM_153620;S79869;S79871;S79910;U10421;U37431 AAA86954;AAB35423;AAB35424;AAB35425;AAC50248;AAC50249;AAC50250;AAH32547;AAS00374;ABM81810;ABM84964;BAG36294;CAR95136;CAR95137;EAL24228;EAL24229;EAW93861;EAW93862;NP_005513;NP_705873;P49639 Hs.67397 1777557;1795988;1799696;1800158;1802918;1803266;1804446;2058240;2058242;2058244;2058246;2058248;2058250;2058252;2058254;2058256;2058258;2058260;2058262;2058264;2058266;2058268;2058270;2058272;2058274;2058276;2058278;2058280;2058282;2058284;2131749;2192108;2192110;2192112;2192114;5021910 ECD00702;ECD00936;ECD02348;ECD02529;ECD03147;HOXA1__1199;REN100295;REN100296;REN100297;REN100298;REN100299;REN100300;REN100301;REN100302;REN100303;REN100304;REN100305;REN100306;REN100307;REN100308;REN100309;REN100310;REN100311;REN100312;REN100313;REN100314;REN100315;REN100316;REN100317;SHGC-35668;STS-U10421;ha2793;stSG609305;stSG609307;stSG609308;stSG609309 BSAS;HOX1;HOX1F;MGC45232 HOX A1 homeodomain protein;Hox 1.6-like protein;OTTHUMP00000217129;OTTHUMP00000217130;homeo box A1;homeobox 1F;homeobox protein Hox-1F;homeobox protein Hox-A1;lab-like protein APPROVED protein-coding ENSG00000105991 HGNC:5099 00843 142955;601536 REVIEWED 6480823 HOXA10-AS HOXA10 antisense RNA 7 7 27208518 27211534 + 27168899 27171915 + 100874323 ABBA01056760;AC004080;AMYH02015408;BM549446;HG500124;HG500125;NR_046609 Hs.716765 2058926;2058944 REN100638;REN100647 HOXA-AS4 APPROVED ncrna ENSG00000253187 HGNC:40281 PREDICTED 735680 HOXA11 homeobox A11 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27209715 27213774 - 27220776 27224835 - 27181157 27185216 - 1580863;6480464;7240710;8699517;8554872 10084606;11101832;11299969;11396649;11585930;11830496;11841440;11857506;11937757;12050232;12060755;12477932;12690205;12853948;1358459;14973489;15167850;15260975;15467538;15489334;15617687;15674412;15731295;16087734;16963455;18029348;18274672;19255789;19372592;19453261;19609949;19727442;1973146;19938081;20457539;20695189;21526497;21890473;21987111;21988832;22233680;22251480;23624749;23979130;2574852;8570656;8646877;9745033 3207 H0YIA6;P31270 ABBA01056761;AC004080;AF039307;AF071164;AK313921;AL551705;AMYH02015408;BC033706;BC040948;CH236948;CH471073;NG_012079;NM_005523 AAB94761;AAC80455;AAH40948;ABZ92009;BAG36642;EAL24220;EAW93887;EAW93888;NP_005514;P31270 Hs.249171 1664297;1800418;1809018;1814198;1817392;1817674;1818234;1821062;2059026;2059028;2059030;2059032;2059034;2059036;2059038;2059040;2059042;2059044;2059046;2059048;2059058;2059060;2059062;2059066;2059068;2059076;2192238;2192240 ECD01069;ECD05496;ECD08128;ECD09746;ECD09889;ECD10174;ECD11608;REN100688;REN100689;REN100690;REN100691;REN100692;REN100693;REN100694;REN100695;REN100696;REN100697;REN100698;REN100699;REN100704;REN100705;REN100706;REN100708;REN100709;REN100713;SHGC-33814;stSG609385;stSG609386 HOX1;HOX1I OTTHUMP00000217288;homeo box 1I;homeobox a2;homeobox protein HOXA11;homeobox protein Hox-1I;homeobox protein Hox-A11 APPROVED protein-coding ENSG00000005073 HGNC:5101 00846 142958;605432 REVIEWED 1346914 HOXA13 homeobox A13 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27225437 27228662 - 27236499 27239725 - 27196880 27200106 - 1599526;1580863;6480464;7240710;8554872;8699517 9020844 10569982;10656931;10835276;10839976;11206481;11688568;11830496;11857506;11968094;12073020;12112533;12414828;12477932;12690205;12853948;1358459;14675924;15617687;16087734;17274802;17935235;18245445;18483557;19145497;19423998;19453261;19491265;19591980;1973146;20301596;21626505;21829694;21890473;21893383;21971947;23376215;23532960;23592225;24114970;2574852;8646877;9847074 3209 P31271;Q6DI00 ABBA01056761;AC004080;AL597666;AMYH02015408;BC016712;BC075791;CH236948;CH471073;NG_008181;NM_000522;U82827 AAC50993;AAH75791;EAL24218;EAW93890;NP_000513;P31271 Hs.592172 1645590;1680972;1753449;1801126;1801318;1801712;1801714;1803594;1804402;1804890;1804892;1805114;1805862;1806700;1806818;1806956;1807974;1808252;1808326;1808664;1809842;1812100;1814146;1816044;1817802;1820722;1823186;1823258;1823666;1824262;1826596;1828074;1828246;1828786;1828884;1831274;1832300;1835364;1838476;1840664;1842122;1842728;1843046;1844330;1844804;2059166;2059168;2059170;2059172;2059174;2059176;2059178;2059180;2059182;2059184;2059186;2059188;2059190;2059192;2059194;2059196;2059202;2059208;2059216;2059218;2059220;2059222;2059224;2059226;2059228;2059230;2059232;2059234;2059236;2059238;2059240;2059242;2059244;2059246;2059248;2059250;2059252;2059254;2059256;2059258;2059260;2059262;2059264;2059266;2059268;2059270;2059272;2059274;2059276;2059278;2059280;2059282;2059284;2059286;2059288;2059290;2059292;2059294;2059296;2059298;2059300;2059302;2059304;2059306;2059308;2059310;2059312;2059314;2059316;2059318;2059320;2059322;2059324;2059326;2059328;2059330;2059332;2059334;2059336;2059338;2059340;2059342;2059344;2059346;2059348;2059350;2059352;2059354;2059356;2059358;2059360;2059362;2059364;2059366;2059368;2059370;2059372;2059374;2059376;2059378;2059380;2059382;2059384;2059386;2059388;2059390;2059392;2059394;2059396;2059398;2059400;2059402;2059404;2059406;2059408;2059410;2059412;2059414;2059416;2059418;2059420;2059422;2059424;2059426;2059428;2059430;2059432;2059434;2059436;2059438;2059440;2059442;2059444;2059446;2059448;2059450;2059452;2059454;2059456;2059458;2059460;2059462;2059464;2059466;2059468;2059470;2059472;2059474;2059476;2059478;2164776;2192260;2192262;2192266;2192268;2192270;2192272;2192274;2192276;2192278;2192280;2192282;2192284;2192286;2192288;2192290;2192292;2192294;2192296;2192298;2192300;2192302;2192304;2192306;2192308;2192310;2192312;5491369 ECD01435;ECD01531;ECD01736;ECD01737;ECD02701;ECD03125;ECD03380;ECD03381;ECD03499;ECD03884;ECD04307;ECD04374;ECD04443;ECD04965;ECD05107;ECD05144;ECD05314;ECD05913;ECD07055;ECD08102;ECD09062;ECD09955;ECD11436;ECD12682;ECD12718;ECD12925;ECD13229;ECD14412;ECD15160;ECD15248;ECD15520;ECD15569;ECD16773;ECD17289;ECD18837;ECD20412;ECD21522;ECD22264;ECD22571;ECD22731;ECD23379;ECD23618;GDB:1318328;Hoxa13;REN100758;REN100759;REN100760;REN100761;REN100762;REN100763;REN100764;REN100765;REN100766;REN100767;REN100768;REN100769;REN100770;REN100771;REN100772;REN100773;REN100776;REN100779;REN100783;REN100784;REN100785;REN100786;REN100787;REN100788;REN100789;REN100790;REN100791;REN100792;REN100793;REN100794;REN100795;REN100796;REN100797;REN100798;REN100799;REN100800;REN100801;REN100802;REN100803;REN100804;REN100805;REN100806;REN100807;REN100808;REN100809;REN100810;REN100811;REN100812;REN100813;REN100814;REN100815;REN100816;REN100817;REN100818;REN100819;REN100820;REN100821;REN100822;REN100823;REN100824;REN100825;REN100826;REN100827;REN100828;REN100829;REN100830;REN100831;REN100832;REN100833;REN100834;REN100835;REN100836;REN100837;REN100838;REN100839;REN100840;REN100841;REN100842;REN100843;REN100844;REN100845;REN100846;REN100847;REN100848;REN100849;REN100850;REN100851;REN100852;REN100853;REN100854;REN100855;REN100856;REN100857;REN100858;REN100859;REN100860;REN100861;REN100862;REN100863;REN100864;REN100865;REN100866;REN100867;REN100868;REN100869;REN100870;REN100871;REN100872;REN100873;REN100874;REN100875;REN100876;REN100877;REN100878;REN100879;REN100880;REN100881;REN100882;REN100883;REN100884;REN100885;REN100886;REN100887;REN100888;REN100889;REN100890;REN100891;REN100892;REN100893;REN100894;REN100895;REN100896;REN100897;REN100898;REN100899;REN100900;REN100901;REN100902;REN100903;REN100904;REN100905;REN100906;REN100907;REN100908;REN100909;REN100910;REN100911;REN100912;REN100913;REN100914;RH66791;RH93295;SHGC-107406;stSG609399;stSG609400;stSG609403;stSG609404;stSG609405;stSG609406;stSG609407;stSG609408;stSG609409;stSG609410;stSG609411;stSG609413;stSG609414;stSG609415;stSG609416;stSG609417;stSG609419;stSG609420;stSG609421;stSG609422;stSG609423;stSG609424;stSG609425;stSG609426;stSG609427;stSG609430 HOX1;HOX1J OTTHUMP00000217287;homeo box 1J;homeo box A13;homeobox protein HOXA13;homeobox protein Hox-1J;homeobox protein Hox-A13;transcription factor HOXA13 APPROVED protein-coding HGNC:5102 00847 140000;142959;176305 REVIEWED 1320375 HOXA10 homeobox A10 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the downstream homeobox A9 (HOXA9) gene. [provided by RefSeq, Mar 2011] 7 7 7 p15.2 27199149 27208815 - 27210210 27219880 - 27170591 27180261 - 1580863;6480464;8554872 10374871;10766757;11290589;11443215;11585930;11752456;11830466;11857506;11875117;12145285;12215336;12477932;12482956;12493691;12519859;12764384;12853948;1358459;14512427;14607569;14960020;14966272;14973489;15213244;15236964;15489334;15674412;15731295;15749785;15905361;16098858;16210632;16344560;16424022;16597639;16647375;1676505;16861351;17173899;17439948;17482600;17688409;17709569;17828513;18190961;18339267;18456676;18692240;18829447;18832725;18930214;19017365;19022774;19084499;19131054;19453261;19727442;1973146;19736237;19778996;19849868;19854516;19938081;19956865;20009888;20036708;20151152;20211142;20371740;20400074;20457539;20463357;20478621;20821045;20935218;20971605;21067721;21087928;21145461;21328509;21454682;21471217;21518888;21526497;21576276;21670700;21757506;21900391;21956427;22279148;22411957;22493287;22915150;23038246;23051705;23092574;23108137;23259602;23376215;23412855;23815210;23979130;24032603;24037888;24222951;24464212;24565841;2573064;2574852;7527557;7556525;7906121;8646877;8972230;9343407;9408238;9525980 3206 P31260;Q5I0Y5 ABBA01056760;ABBA01056761;AC004080;AF040714;AK312450;AL710880;AMYH02015408;AV687088;BC007600;BC013971;BC071843;BC094807;BF196481;BQ215499;BX439708;CH236948;CH471073;DB267919;M30599;NM_018951;NR_037939;S69027;S69029;X58430 AAA36006;AAB96917;AAD14030;AAD14031;AAH07600;AAH13971;AAH71843;AAH94807;ABM82832;ABM86018;ABM87835;BAG35357;CAB86198;EAW93883;EAW93884;EAW93885;EAW93886;NP_061824;P31260 Hs.110637;Hs.659350 1664297;1675915;1792286;1798344;1798466;1798492;1798500;1798934;1798998;1799140;1800348;1800458;1818084;1821062;2058932;2058934;2058936;2058938;2058940;2058942;2058944;2058946;2058948;2058950;2058952;2058954;2058956;2058958;2058960;2058962;2058964;2058966;2058968;2058970;2058972;2058974;2058976;2058978;2058980;2058982;2058984;2058986;2058988;2058990;2058992;2058994;2058996;2058998;2059000;2059002;2059004;2059006;2059008;2059010;2059012;2059014;2059016;2059018;2059020;2059022;2059024;2059026;2059028;2059030;2059032;2059034;2156665;2192224;2192226;2192228;2192230;2192232;2192234;2192236;2217442 D7S2774;ECD00007;ECD00070;ECD00084;ECD00088;ECD00308;ECD00344;ECD00416;ECD01033;ECD01089;ECD10098;ECD11608;HOXA10_1370;PMC140663P1;REN100641;REN100642;REN100643;REN100644;REN100645;REN100646;REN100647;REN100648;REN100649;REN100650;REN100651;REN100652;REN100653;REN100654;REN100655;REN100656;REN100657;REN100658;REN100659;REN100660;REN100661;REN100662;REN100663;REN100664;REN100665;REN100666;REN100667;REN100668;REN100669;REN100670;REN100671;REN100672;REN100673;REN100674;REN100675;REN100676;REN100677;REN100678;REN100679;REN100680;REN100681;REN100682;REN100683;REN100684;REN100685;REN100686;REN100687;REN100688;REN100689;REN100690;REN100691;REN100692;RH80053;SHGC-33814;stSG609376;stSG609379;stSG609380;stSG609381;stSG609382;stSG609383;stSG609384 HOX1;HOX1.8;HOX1H;MGC12859;PL OTTHUMP00000217273;OTTHUMP00000217274;homeo box A10;homeobox protein 1H;homeobox protein HOXA10;homeobox protein Hox-1.8;homeobox protein Hox-1H;homeobox protein Hox-A10 APPROVED protein-coding ENSG00000253293 HGNC:5100 00845 142957 REVIEWED 1353431 HOXA2 homeobox A2 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27128910 27131331 - 27139973 27142394 - 27100354 27102775 - 1580863;6480464;7240710;8554872;8699517 11857506;12477932;12690205;12853948;1358459;14702039;15617687;18029348;18394579;19453261;19938081;20542577;23775976;24243817;24244684;24722188;8646877 3199 O43364 ABBA01056757;AC004079;AI581335;AI796505;AK096742;AL079274;AMYH02015407;AW079894;AW292406;BC130571;BC136500;BE465040;BF509655;CH236948;CH471073;KF458414;NG_012078;NM_006735 AAI30572;AAI36501;AAS00375;BAG53357;EAL24227;EAW93864;NP_006726;O43364 Hs.445239;Hs.592177 1729013;1799584;1799860;1817160;1817670;1845444;2058306;2058308;2058310;2058312;2058314;2058316;2058318;2058320;2058322;2058324;2058326;2058328;2058330;2058332;2058334;2058336;2058338;2058340;2058342;2058344;2108785;2120285;2190997;2192120;2192122;2192124;2192126 ECD00644;ECD00784;ECD09630;ECD09887;ECD23940;HOXA2_989.2;Hoxa2;MARC_12745-12746:1030738152:1;REN100328;REN100329;REN100330;REN100331;REN100332;REN100333;REN100334;REN100335;REN100336;REN100337;REN100338;REN100339;REN100340;REN100341;REN100342;REN100343;REN100344;REN100345;REN100346;REN100347;SHGC-57559;stSG609312;stSG609313;stSG609315;stSG609316 HOX1K MCOHI;OTTHUMP00000217153;homeo box a2;homeobox protein Hox-1K;homeobox protein Hox-A2 APPROVED protein-coding ENSG00000105996 HGNC:5103 05252 604685;612290 REVIEWED 736245 HOXA4 homeobox A4 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27157064 27159337 - 27168126 27170399 - 27128507 27130780 - 1580863;6480464 11857506;12031912;12477932;12520199;12853948;1358459;16688227;1675427;17003840;18410541;19453261;19563517;19723874;1973146;1981366;21546695;21627813;23484077;2571574;2576652;7654365;8646877;8688592;9202392;9457903;9665340;9847074 3201 H0YHX3;Q00056 ABBA01056759;AC004080;AI277552;AMYH02015408;AW445008;BC126994;CH236948;CH471073;M28199;M74297;NM_002141 AAA53290;AAA58664;AAI26995;AAI60036;EAL24224;EAW93872;NP_002132;Q00056 Hs.533357;Hs.721126 1768787;1797128;1799278;1799654;1820604;1829888;1837816;2058554;2058556;2058558;2058560;2058562;2058564;2058566;2058568;2058570;2058572;2058574;2058576;2058578;2058588;2058590;2058592;2058594;2138916;2192162 D7S2834;ECD00487;ECD00681;ECD11377;ECD16077;ECD20078;G10625;HOXA4;REN100452;REN100453;REN100454;REN100455;REN100456;REN100457;REN100458;REN100459;REN100460;REN100461;REN100462;REN100463;REN100464;REN100469;REN100470;REN100471;REN100472;stSG609337 HOX1;HOX1D Dfd-like protein;Hox-1.4-like protein;OTTHUMP00000024831;OTTHUMP00000242748;homeo box A4;homeobox protein Hox-1.4;homeobox protein Hox-1D;homeobox protein Hox-A4 APPROVED protein-coding ENSG00000197576 HGNC:5105 00841 142953 REVIEWED 2300356 HOXA11-AS HOXA11 antisense RNA 7 7 7 p15.2 27213966 27217850 + 27225027 27228912 + 27185408 27189293 + 6480464 12050232;12477932;12690205;16344560;9745033 221883 ABBA01056761;AC004080;AF071165;AF071166;AF071167;AF071168;AF071169;AMYH02015408;BC025338;BI753022;DA421792;NG_012079;NR_002795 Hs.587427 1799586;1800418;1801186;1807158;1809018;1817674;2059050;2059052;2059054;2059056;2059058;2059060;2059062;2059064;2059066;2059068;2059070;2059072;2059074;2059076;2059078;2059080;2059082;2059084;2059086;2059088;2059090;2059092;2059094;2059096;2059098;2059100;2059102;2192242;2192244;2192246 ECD00645;ECD01069;ECD01465;ECD04545;ECD05496;ECD09889;REN100700;REN100701;REN100702;REN100703;REN100704;REN100705;REN100706;REN100707;REN100708;REN100709;REN100710;REN100711;REN100712;REN100713;REN100714;REN100715;REN100716;REN100717;REN100718;REN100719;REN100720;REN100721;REN100722;REN100723;REN100724;REN100725;REN100726;stSG609388;stSG609389;stSG609390 HOXA-AS5;HOXA11-AS1;HOXA11AS;HOXA11S;NCRNA00076 APPROVED ncrna ENSG00000240990 HGNC:24957 607530 VALIDATED 734224 HOXA5 homeobox A5 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27169928 27172220 - 27180671 27192309 - 27141052 27143668 - 1580863;6480464;8554872 10397719;10737800;10875927;10879542;11238043;11857506;12163409;12477932;12642491;12690205;12853948;1358459;14701762;15489334;15545268;15617687;15684390;15757903;16379594;16756717;17167183;17785556;17804711;17957028;18538349;19322201;19453261;19554572;1973146;19938081;20211142;20846263;20890077;21311178;21532573;21546695;21890473;22227861;22464764;22876840;23455924;2568583;2576652;8570656;8646877;8657138;9457903 3202 P20719;Q6FG31 ABBA01056759;AC004080;AMYH02015408;AW802886;BC013682;BI822268;BT009744;CH236948;CH471073;CR542256;CR542277;M26679;NM_019102 AAA58663;AAH13682;AAP88746;ABM84687;ABM92210;CAG47052;CAG47073;EAL24223;EAW93873;NP_061975;P20719 Hs.655218 1800918;1803010;1803878;1807362;1817224;2058670;2058672;2058674;2058676;2058678;2058688;2058690;2058692;2058694;2058696;2058698;2058700;2058702;2058704;2058706;2058708;2058710;2058712;2166440;2189443;2189753;2192182;2217444;7185490 ECD01324;ECD02396;ECD02852;ECD04652;ECD09662;HOX1;HOXA5_3307;Hoxa5;MARC_6217-6218:992007117:1;REN100510;REN100511;REN100512;REN100513;REN100514;REN100519;REN100520;REN100521;REN100522;REN100523;REN100524;REN100525;REN100526;REN100527;REN100528;REN100529;REN100530;REN100531;UniSTS:57649;stSG609349 HOX1;HOX1.3;HOX1C;MGC9376 OTTHUMP00000217259;homeo box 1C;homeo box A5;homeobox protein HOXA5;homeobox protein Hox-1C;homeobox protein Hox-A5 APPROVED protein-coding ENSG00000106004 HGNC:5106 00840 142952 REVIEWED 1343560 HOXA7 homeobox A7 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27182274 27185235 - 27193335 27196296 - 27153716 27156677 - 1580863;6480464 10737800;10911612;11435435;11857506;12477932;12690205;12853948;1358459;14562113;14702039;14704364;14973489;16597639;17959889;17972163;18973687;19453261;1973146;19888898;20336696;20540809;20634891;21323949;21518888;21890473;21988832;22085718;22251480;23660297;24099775;2568891;2574852;2576652;7654365;8646877;9405651;9539109;9804983;9847074 3204 E5RHM9;P31268 ABBA01056760;AC004080;AF026397;AF032095;AMYH02015408;AW793597;BC061916;CH236948;CH471073;NM_006896;U92543;X84803 AAB94604;AAD00727;AAD01939;AAI40402;AAI48693;CAA59270;EAL24221;EAW93877;NP_008827;P31268 Hs.610216;Hs.660918 1729015;1800616;1806408;1810774;1818154;1820414;1822898;2058788;2058790;2058792;2058794;2058796;2058798;2058800;2058802;2058804;2058806;2058808;2058810;2058812;2058814;2058816;2058818;2058820;2058822;2058824;2058826;2058828;2112006;2135969;2135971 D7S3010;ECD01169;ECD04160;ECD06385;ECD10134;ECD11282;ECD12537;Hoxa7;REN100569;REN100570;REN100571;REN100572;REN100573;REN100574;REN100575;REN100576;REN100577;REN100578;REN100579;REN100580;REN100581;REN100582;REN100583;REN100584;REN100585;REN100586;REN100587;REN100588;REN100589;RH47950;RH48711 ANTP;HOX1;HOX1.1;HOX1A OTTHUMP00000217256;homeo box A7;homeobox protein HOX-1A;homeobox protein Hox 1.1;homeobox protein Hox-A7 APPROVED protein-coding ENSG00000122592 HGNC:5108 00838 142950 REVIEWED 1344896 HOXA3 homeobox A3 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27134746 27155577 - 27145803 27179805 - 27106184 27140186 - 1580863;6480464;8554872 11823429;11857506;12477932;12690205;12853948;1358459;14702039;15489334;15782160;16582099;17972163;18029348;19453261;1973146;20211142;21044950;8646877;8889548;9520319;9847074;9894676 3200 A4D182;B3KPN8;E5RIJ8;F2Z3A4;O43365 ABBA01056757;ABBA01056758;ABBA01056759;AC004079;AC004080;AC010990;AK056567;AK094200;AMYH02015407;AMYH02015408;BC015180;BM984673;CH236948;CH471073;NM_030661;NM_153631;XM_005249730;XM_005249731;XM_005249732;XM_006715715 AAH15180;AAS00376;ABM81898;ABM85073;BAG51750;BAG52842;EAL24225;EAL24226;EAW93865;EAW93866;NP_109377;NP_705895;O43365;XP_005249787;XP_005249788;XP_005249789;XP_006715778 Hs.659337 1658772;1667731;1768900;1794530;1798440;1798464;1798490;1799252;1799400;1799862;1804954;1805594;1806406;1807360;1807972;1808810;1809082;1809084;1809774;1810418;1810696;1811946;1814560;1814562;1819518;1819520;1825278;1826434;1826436;1826510;1828680;1838474;2058354;2058356;2058358;2058360;2058362;2058364;2058366;2058368;2058370;2058372;2058374;2058376;2058378;2058380;2058382;2058384;2058386;2058388;2058390;2058392;2058394;2058396;2058398;2058400;2058402;2058404;2058406;2058408;2058410;2058412;2058414;2058416;2058418;2058420;2058422;2058424;2058426;2058428;2058430;2058432;2058434;2058436;2058438;2058440;2058442;2058444;2058446;2058448;2058450;2058452;2058454;2058456;2058458;2058460;2058462;2058464;2058466;2058468;2058470;2058472;2058474;2058476;2058478;2058480;2058482;2058484;2058486;2058488;2058490;2058492;2058494;2058496;2058498;2058500;2058502;2058504;2058506;2058508;2058510;2058512;2058514;2058522;2058524;2058526;2058528;2058530;2058532;2058534;2058536;2058538;2058540;2058542;2058544;2058546;2058548;2058550;2058552;2058554;2058556;2058558;2058560;2192130;2192132;2192134;2192136;2192138;2192140;2192142;2192144;2192146;2192148;2192150;2192152;2192154;2192156;2192158;2192160 A008T18;ECD00057;ECD00069;ECD00083;ECD00474;ECD00551;ECD00785;ECD03417;ECD03747;ECD04159;ECD04651;ECD04964;ECD05388;ECD05529;ECD05530;ECD05879;ECD06202;ECD06343;ECD06977;ECD08310;ECD08311;ECD10826;ECD10827;ECD13744;ECD14331;ECD14332;ECD14369;ECD15467;ECD20411;PMC316811P1;REN100352;REN100353;REN100354;REN100355;REN100356;REN100357;REN100358;REN100359;REN100360;REN100361;REN100362;REN100363;REN100364;REN100365;REN100366;REN100367;REN100368;REN100369;REN100370;REN100371;REN100372;REN100373;REN100374;REN100375;REN100376;REN100377;REN100378;REN100379;REN100380;REN100381;REN100382;REN100383;REN100384;REN100385;REN100386;REN100387;REN100388;REN100389;REN100390;REN100391;REN100392;REN100393;REN100394;REN100395;REN100396;REN100397;REN100398;REN100399;REN100400;REN100401;REN100402;REN100403;REN100404;REN100405;REN100406;REN100407;REN100408;REN100409;REN100410;REN100411;REN100412;REN100413;REN100414;REN100415;REN100416;REN100417;REN100418;REN100419;REN100420;REN100421;REN100422;REN100423;REN100424;REN100425;REN100426;REN100427;REN100428;REN100429;REN100430;REN100431;REN100432;REN100436;REN100437;REN100438;REN100439;REN100440;REN100441;REN100442;REN100443;REN100444;REN100445;REN100446;REN100447;REN100448;REN100449;REN100450;REN100451;REN100452;REN100453;REN100454;REN100455;RH16603;SGC33676;stSG609318;stSG609319;stSG609320;stSG609322;stSG609323;stSG609326;stSG609327;stSG609328;stSG609329;stSG609330;stSG609331;stSG609332;stSG609333;stSG609334;stSG609335;stSG609336 HOX1;HOX1E;MGC10155 Hox-1.5-like protein;OTTHUMP00000067265;OTTHUMP00000217262;homeo box 1E;homeo box A3;homeobox protein Hox-1E;homeobox protein Hox-A3 APPROVED protein-coding ENSG00000105997 HGNC:5104 00842 142954 REVIEWED 1352106 HOXA6 homeobox A6 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27174050 27176302 - 27185202 27187393 - 27145481 27152690 - 1580863;6480464 11857506;12477932;12690205;12853948;1358459;15489334;17207965;19157684;19453261;1973146;21890473;23349797;23539541;25015289;2576652;8646877;9247466 3203 P31267 ABBA01056760;AC004080;AMYH02015408;BC069497;BC104915;BC104917;BG749730;CH236948;CH471073;NM_024014;XM_006715716 AAH69497;AAI04916;AAI04918;ADQ32869;EAL24222;EAW93874;EAW93875;NP_076919;P31267;XP_006715779 Hs.679517 1666132;1800798;1810698;1812448;1814922;1815326;2058710;2058712;2058714;2058722;2058724;2058726;2058728;2058730;2058732;2058734;2058736;2058738;2058740;2058742;2058744 D7S150;ECD01261;ECD06344;ECD07231;ECD08492;ECD08699;REN100530;REN100531;REN100532;REN100536;REN100537;REN100538;REN100539;REN100540;REN100541;REN100542;REN100543;REN100544;REN100545;REN100546;REN100547 HOX1;HOX1.2;HOX1B OTTHUMP00000217258;homeo box 1B;homeo box A6;homeobox protein HOXA6;homeobox protein Hox-1B;homeobox protein Hox-A6 APPROVED protein-coding ENSG00000106006 HGNC:5107 00839 142951 REVIEWED 1348178 HOXA@ homeo box A cluster 1358459;1973146 3197 HGNC:5098 6480831 HOXB-AS1 HOXB cluster antisense RNA 1 17 17 46621713 46628603 + 48544351 48551241 + 10737800 100874362 ABBA01041170;ABBA01041171;AC103702;AI822042;AMYH02033541;BF875734;HG509173;HG509174;HG509175;NR_102279 Hs.171806 APPROVED ncrna ENSG00000230148 HGNC:43744 VALIDATED 6480824 HOXB-AS2 HOXB cluster antisense RNA 2 q21.32 10737800;16344560 100874350 AC103702;BF997934;BF999536;DA447098 Hs.653055 APPROVED ncrna HGNC:40284 6480825 HOXB-AS4 HOXB cluster antisense RNA 4 q21.32 16344560 100874351 AC103702;AI940041;DB109357 Hs.629601 APPROVED ncrna HGNC:40285 5688501 HOXB-AS3 HOXB cluster antisense RNA 3 INTERACTS WITH cytarabine; methylmercury chloride 17 17 17 q21.32 43121978 43137934 + 46667823 46683776 + 48590420 48606414 + 6480464 11181995;11329013;12477932;22484627;7566098;8889548 404266 D3DTV8 AA299267;ABBA01041172;AC103702;AMYH02033542;BC010732;BF431268;BG196429;BG203124;BG203609;BG217847;CB046509;CF127739;CH471109;DA741273;HG509177;HG509178;HG509179;HG509180;HG509181;HG509182;HG509183;HG509184;HG509186;HG509187;NR_033201;NR_033202;NR_033203;NR_033204;NR_033205;NR_110329;NR_110330;NR_110331;W39335 AAH10732;EAW94727;EAW94732;EAW94733;EAW94734;EAW94735;EAW94736 Hs.660088 1298272;1673241;1700252;1741881;1741959;2148589 D17S2180;G10507;GDB:186406;GDB:187025;RH103743;RH17800 APPROVED ncrna ENSG00000233101 HGNC:40283 VALIDATED 1320652 HOXA9 homeobox A9 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. Read-through transcription exists between this gene and the upstream homeobox A10 (HOXA10) gene.[provided by RefSeq, Mar 2011] 7 7 7 p15.2 27190996 27194088 - 27202057 27205149 - 27162438 27165530 - 1580863;6480464;8554872 10082572;11042172;11076863;11256614;11551904;11585930;11830496;11857506;12082612;12112533;12138901;12393433;12477932;12649177;12853948;12923056;1358459;14561764;14562113;14609952;14701735;14738146;14764452;15160920;15161102;15254242;15454493;15479723;15489334;15489336;15657436;15681849;15960974;15960975;16105979;16189514;16381901;16630659;16803519;17178874;17327400;17452460;17586512;17623056;17761289;17885552;18068911;18337761;18410541;18474618;18668134;19056693;19060904;19157684;19346496;19453261;19620287;19696924;1973146;19938081;20068170;20141430;20379614;20389018;20565746;20661663;20727230;20935218;21259057;21294585;21467841;21480815;21518888;21558411;21971947;22251480;22269951;22353710;22541086;22633751;22713874;22902925;22944570;22945634;23028966;23056278;23264595;23326393;23349797;23403989;23436614;23466061;23539541;23575938;23607948;23660297;23716660;23894305;23994619;24051379;24081945;24308157;24332016;2574852;8563753;8563754;8646877;9058712;9343407;9628584;9657735;9880515 3205 A8MVF3;P31269 ABBA01056760;AC004080;AF010258;AMYH02015408;AW612618;BC006537;BC010023;BG258601;BT006990;CA442923;CH236948;CH471073;NG_029923;NM_152739;U41813;U81511;U82759 AAB40867;AAC23704;AAC23705;AAC50364;AAD08713;AAH06537;AAH10023;AAP35636;ABM83674;ABM86962;CAL38404;EAW93880;NP_689952;P31269 Hs.659350 1657151;1676974;1795990;1798384;1799138;1799254;1799316;1799534;2058860;2058862;2058864;2058866;2058868;2058870;2058872;2058874;2058876;2058878;2058880;2058882;2058884;2058886;2058888;2058890;2058892;2058894;2058896;2058898;2058900;2058902;2058904;2058906;2154833;2192212;2192214;2192216;2192218;5492088 ECD00028;ECD00415;ECD00475;ECD00507;ECD00619;HOX1;HOXA9_991;Hoxa9;REN100605;REN100606;REN100607;REN100608;REN100609;REN100610;REN100611;REN100612;REN100613;REN100614;REN100615;REN100616;REN100617;REN100618;REN100619;REN100620;REN100621;REN100622;REN100623;REN100624;REN100625;REN100626;REN100627;REN100628;RH18061;RH80175;stSG609368;stSG609369;stSG609370;stSG609371 ABD-B;HOX1;HOX1.7;HOX1G;MGC1934 OTTHUMP00000217260;homeobox protein HOXA9;homeobox protein Hox-1G;homeobox protein Hox-A9;homeodomain protein HOXA9 APPROVED protein-coding ENSG00000078399 HGNC:5109 00844 142956 REVIEWED 1321119 HOXB1 homeobox B1 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 43060953 43062427 - 46606807 46608272 - 48529445 48530910 - 1580863;6480464;8699517;7240710;8554872 10052460;10331985;10373562;10671062;11069920;11091361;11278854;11585930;11840501;11857506;11972344;123121;12477932;12487626;1358459;17167333;17713478;18029348;19477923;1973146;20195514;20371328;20678259;21433221;21980499;22770981;2574852;2576652;7913891;8570656;8646877;8890171;9482740 3211 P14653;Q4VB03 ABBA01041170;AC103702;AF287350;AMYH02033541;BC096191;BC096192;BC096193;BC099633;CH471109;NG_032884;NM_002144;X16666 AAG31762;AAH96191;AAH96192;AAH96193;AAH99633;CAA34656;EAW94746;NP_002135;P14653 Hs.99992 2184604;2217448;5491284;5492535 HOXB1_2983;Hoxb1;RH71278;UniSTS:481565 HCFP3;HOX2;HOX2I;Hox-2.9;MGC116843;MGC116844;MGC116845 OTTHUMP00000217086;homeo box 2I;homeobox protein Hox-2I;homeobox protein Hox-B1 APPROVED protein-coding HGNC:5111 00855 142968;614744 REVIEWED 1321880 HOXB3 homeobox B3 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008] 17 17 17 q21.3 43080373 43105963 - 46626232 46667634 - 48548870 48590272 - 1580863;6480464 11585930;11857506;11971819;1358459;14702039;14966272;15085154;15146197;15674412;16344560;17972163;19460752;19477923;1973146;19854132;22484627;23219899;2570724;2574852;2576652;7913891;8646877;8890171;8920965;9052833;9556594;9774637 3213 B3KNJ7;B7Z5N8;C9J2I3;F8VXG0;F8W1L2;P14651 ABBA01041171;ABBA01041172;AC103702;AF016029;AF287967;AI633956;AK027609;AK291182;AK299226;AK299265;AK309721;AK315102;AK316245;AMYH02033541;AMYH02033542;CH471109;CN358294;DA735249;NM_002146;U59298;X16175;X16667;XM_005257277;XM_005257280;XM_005257282;XM_006721854;XM_006721855 AAD10852;AAG31555;AAI72242;AAI72550;BAF83871;BAG37563;BAG51359;BAH12974;BAH12984;BAH14616;CAA34297;CAA34657;EAW94739;EAW94740;EAW94741;NP_002137;P14651;XP_005257334;XP_005257337;XP_005257339;XP_006721917;XP_006721918 Hs.654560 1341843;1680064;1705660;1729017;1742297;1795992;1797698;5020645 D17S1827;G66160;GDB:196132;HOXB3_127;HOXB4_2061;Hoxb3;RH75958;SHGC-83404 HOX2;HOX2G;Hox-2.7 OTTHUMP00000217027;OTTHUMP00000217028;OTTHUMP00000217029;OTTHUMP00000217030;OTTHUMP00000217031;OTTHUMP00000217032;OTTHUMP00000217033;OTTHUMP00000217034;homeo box 2G;homeo box B3;homeobox protein Hox-2.7;homeobox protein Hox-2G;homeobox protein Hox-B3 APPROVED protein-coding HGNC:5114 00853 142966 REVIEWED 1319269 HOXB13 homeobox B13 This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 43256271 43260259 - 46802125 46806111 - 48724763 48728749 - 1580863;2314726;2314729;2314730;2314731;2314727;2314728;6480464;8554872 15583692;15756448;16278676;16803519;17453342;19250546 11857506;12477932;12761847;15126340;15489334;15604291;15928669;16609001;16609019;16792730;17008703;17145863;17942676;17972163;17975144;18163187;18499701;18794098;19917249;20018680;20211142;20454457;20504375;20649975;21574054;22236224;22297979;22714738;22718278;22781434;22841674;22853031;23036981;23064873;23099437;23129385;23276138;23292082;23334858;23385818;23393222;23396964;23457453;23475555;23518396;23535732;23541221;23812955;23832664;24026887;24146108;24148311;24213000;24325868;24390282;24457600;24722062;8125298;8756292;9343407;9665387 10481 Q4KR72;Q92826 ABBA01041174;AC091179;AK225234;AK313266;AMYH02033545;AY937237;BC007092;BC070233;BT007410;CH471109;NG_033789;NM_006361;U57052;U81599 AAB39863;AAC50664;AAH07092;AAH70233;AAP36078;AAY17396;ABM84443;ABM87495;BAG36075;EAW94714;NP_006352;Q92826 Hs.66731 1649873;2217446 HOXB13_3036;STS-U81599 PSGD OTTHUMP00000216942;homeo box B13;homeobox protein Hox-B13 APPROVED protein-coding ENSG00000159184 HGNC:5112 05210 604607 REVIEWED 1344417 HOXB4 homeobox B4 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Intracellular or ectopic expression of this protein expands hematopoietic stem and progenitor cells in vivo and in vitro, making it a potential candidate for therapeutic stem cell expansion. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 43107022 43109896 - 46652869 46655743 - 48575507 48578381 - 1580863;6480464 10904875;11085749;11250656;11585930;11984874;12130496;12406897;12477932;12701098;12761847;12791656;1351762;1358459;14578882;14966272;15489334;15617687;17510218;17784829;17962697;18511880;18617691;18932205;19549386;1973146;1981366;19878058;20030938;20599537;20625746;21098278;21546695;22000550;22040961;22120585;22298821;22402911;22438249;22664110;22761810;23028422;23630040;2570724;2574852;2576652;8688592;8889548 3214 P17483 ABBA01041172;AC103702;AF287967;AF307160;AL137449;AMYH02033542;BC049204;BM972328;BU161354;CH471109;NM_024015;X16174 AAG31554;AAG45052;AAH49204;CAA34296;CAB70742;EAW94742;NP_076920;P17483 Hs.664706 1797698 HOXB4_2061 HOX-2.6;HOX2;HOX2F OTTHUMP00000217026;homeo box 2F;homeo box B4;homeobox protein Hox-2.6;homeobox protein Hox-2F;homeobox protein Hox-B4 APPROVED protein-coding HGNC:5115 07032 142965 REVIEWED 1320419 HOXB2 homeobox B2 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 43074158 43076535 - 46620017 46622393 - 48542655 48545031 - 1580863;6480464 10230789;10595394;11238043;11585930;11835749;11857506;12477932;12802276;1358459;15489334;15867264;16079151;16458891;17805056;1871139;19477923;1973146;20030938;20195514;20625746;20628624;21672623;2570724;2574852;2576652;2901346;7876223;7913891;9556594 3212 P14652 AA450237;ABBA01041170;AC103702;AMYH02033541;BC038968;BC074805;BC074806;CH471109;M73999;NM_002145;U12590;X14571;X16176;X16665;X78978;XM_005257275;XM_005257276 AAA21150;AAB00778;AAH74805;AAH74806;ABZ92010;CAA32709;CAA34298;CAA34655;CAA55581;EAW94743;EAW94744;EAW94745;NP_002136;P14652;XP_005257332;XP_005257333 Hs.514289 2133133 STS-X16665 HOX2;HOX2H;Hox-2.8;K8 K8 home protein;OTTHUMP00000217087;homeo box 2H;homeo box B2;homeobox protein Hox-2.8;homeobox protein Hox-2H;homeobox protein Hox-B2 APPROVED protein-coding ENSG00000173917 HGNC:5113 00854 142967 REVIEWED 1342680 HOXB5 homeobox B5 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 43122774 43125258 - 46668619 46671103 - 48591257 48593741 - 1580863;6480464 11839528;11857506;12477932;12897140;12950074;1355360;1358459;14632303;15489334;17623056;1973146;1981366;21552713;21677782;21890473;22484627;22603795;22648184;22768238;23438671;24189625;2570724;2574852;2576652;2878432;3000607;3186746;3453105;4075393;6091895;8101633;8646877;8688592;8930688 3215 P09067 ABBA01041172;AC103702;AF287967;AK314964;AMYH02033542;BC004454;BC008940;BC117247;BE621135;BQ001097;BQ073272;CH471109;K02572;M86726;M92299;NM_002147;X03794 AAA52681;AAA52682;AAB59430;AAG31553;AAI17248;BAG37466;CAA27420;EAW94737;NP_002138;P09067 Hs.654456 1673241;2148589 G10507;RH17800 HHO.C10;HOX2;HOX2A;HU-1;Hox2.1 OTTHUMP00000216977;homeo box 2A;homeo box B5;homeobox protein HHO.C10;homeobox protein Hox-2A;homeobox protein Hox-B5;homeobox protein Hu-1 APPROVED protein-coding ENSG00000120075 HGNC:5116 00848 142960 REVIEWED 1349103 HOXB7 homeobox B7 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 43138752 43142544 - 46684594 46688383 - 48607232 48611021 - 1580863;6480464 10026139;10208421;10233891;10435624;11290787;11522651;11585930;11857506;12477932;12697323;1358459;14973489;15342556;15756441;16597639;16673309;1678287;17018609;17203973;17274802;17308091;17514648;18029348;1973146;1981366;19878270;19956843;20480203;21183939;21474578;21690342;21832049;21953534;21988832;22239410;22553335;22603795;22844406;22879911;22911672;22914903;23400877;23861821;24088503;24641834;2570724;2573064;2574852;2576652;2885844;7530503;7729685;7738096;8105782;8125298;8570656;8646877;8756643;9366523;9457903;9681827 3217 P09629 ABBA01041172;AC103702;AF284825;AF287967;AJ414528;AK223249;AK290653;AMYH02033542;AMYH02033543;BC015345;BG118354;BM923808;BP342702;BQ233410;CH471109;M16937;M30598;NM_004502;S49765 AAA36003;AAA36005;AAB19469;AAG29814;AAG31551;AAH15345;BAD96969;BAF83342;CAC93674;EAW94725;EAW94726;NP_004493;P09629 Hs.436181 1797700 HOXB7_1567 HHO.C1;HOX2;HOX2C;Hox-2.3 OTTHUMP00000216944;homeo box 2C;homeo box B7;homeo box c1 protein;homeobox protein HHO.C1;homeobox protein Hox-2C;homeobox protein Hox-B7 APPROVED protein-coding ENSG00000260027 HGNC:5118 00850 142962 REVIEWED 1602502 HOXB6 homeobox B6 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 43127256 43136492 - 46673099 46682343 - 48594095 48604992 - 6480464 10327653;10833444;10906782;11238043;11585930;11857506;12094253;12477932;1358459;1358998;13678718;15269212;15489334;16189514;1672751;17003840;17207965;19477923;1973146;1981366;20211142;22603795;2570724;2573064;2574852;2576652;2888083;6091895;7729685;7906121;8646877;8696343;9108390;9126347;9922051 3216 P17509;Q16124 ABBA01041172;AC103702;AF287967;AI283987;AI352188;AK292200;AMYH02033542;AW370639;BC014651;CH471109;K02571;M30597;NM_018952;S69023;X58431;XM_005257283;XM_005257284;XM_005257285;XM_006721856 AAA36004;AAD14028;AAG31552;AAH14651;ABM81658;ADQ31671;BAF84889;CAA41335;CAA41336;EAW94728;EAW94729;EAW94730;EAW94731;NP_061825;P17509;XP_005257340;XP_005257341;XP_005257342;XP_006721919 Hs.98428 1298272;1700252;1729019;1741881;1741959;2190841 D17S2180;GDB:186406;GDB:187025;HOXB;Hoxb6;RH103743 HOX2;HOX2B;HU-2;Hox-2.2 OTTHUMP00000216975;OTTHUMP00000216976;homeo box 2B;homeo box B6;homeobox protein Hox-2.2;homeobox protein Hox-2B;homeobox protein Hox-B6;homeobox protein Hu-2 APPROVED protein-coding ENSG00000108511 HGNC:5117 00849 142961 REVIEWED 1344128 HOXB@ homeo box B cluster 1358459;1973146 3210 HGNC:5110 1314613 HOXB9 homeobox B9 This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of leukemia, prostate cancer and lung cancer. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 43152681 43157998 - 46698518 46703835 - 48621156 48626473 - 1580863;6480464 10617598;11070089;11485933;11585930;11857506;12477932;1358459;14702039;15489334;15839736;16189514;16344560;1712647;17148583;18029348;19060904;19341834;19576624;1973146;1981366;20080567;20211142;21139048;21428455;21930940;21988832;22225776;22396001;22863320;22990118;23332081;23350386;24462859;24582746;24600698;2570724;2574852;2576652;8646877;9922051 3219 B3KPJ1;P17482 ABBA01041173;AC103702;AK026084;AK056123;AK056414;AK315480;AMYH02033543;AY014295;AY014296;BC015565;BF305592;BX114117;CA426693;CH471109;DA696753;DA712230;NM_024017;X16172 AAG42144;AAH15565;BAG37864;BAG51703;CAA34294;EAW94721;NP_076922;P17482 Hs.463350 1701116;1795994 HOXB9_997;RH104186 HOX-2.5;HOX2;HOX2E OTTHUMP00000216946;OTTHUMP00000243325;homeo box 2E;homeo box B9;homeobox protein Hox-2.5;homeobox protein Hox-2E;homeobox protein Hox-B9 APPROVED protein-coding ENSG00000170689 HGNC:5120 00852 142964 REVIEWED 6480828 HOXC-AS2 HOXC cluster antisense RNA 2 12 q13.13 53995208 53996785 - 100874364 ABBA01008362;AC012531;AI935658;AMYH02026528;BF195843;NR_047505 AC012531.16 APPROVED ncrna ENSG00000250133 HGNC:43750 VALIDATED 6480959 HOXC-AS3 HOXC cluster antisense RNA 3 12 q13.13 53981509 53985083 - 12477932;16344560 100874365 ABBA01008361;AC012531;AI830498;AMYH02026528;BC035260;DA651327;NR_047506;XR_424360;XR_429138;XR_432831 Hs.607141 APPROVED ncrna HGNC:43751 VALIDATED 1345658 HOXB8 homeobox B8 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 43143869 43146474 - 46689708 46692474 - 48612346 48615112 - 1580863;6480464 10737800;11438208;11571641;11779477;11857506;1358459;14702039;15617687;1973146;1981366;23438671;23647300;2570724;2574852;2576652;8646877;9126347 3218 I3L383;I3L3R1;P17481;Q8N8T3 ABBA01041172;ABBA01041173;AC103702;AI277015;AI672407;AK096222;AMYH02033543;AW612644;AY014293;AY014294;BF761142;CH471109;NM_024016;X16173;XM_005257286 AAG42143;AAI41561;BAC04730;CAA34295;EAW94723;EAW94724;NP_076921;P17481;XP_005257343 Hs.514292 1645958;5492781 D17S727;UniSTS:482549 HOX2;HOX2D;Hox-2.4 OTTHUMP00000216943;homeo box 2D;homeo box B8;homeobox protein Hox-2.4;homeobox protein Hox-2D;homeobox protein Hox-B8 APPROVED protein-coding ENSG00000120068 HGNC:5119 00851 142963 REVIEWED 1316332 HOXC10 homeobox C10 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 54028565 54033680 + 54374466 54384063 + 53985162 53990279 + 1580863;6480464 10835276;11445587;11857506;12477932;12853486;1358459;15489334;16799092;17974957;19471022;19522674;21693764;21963094;21988832;22939629;2574852;2878432;8646877;9357979 3226 D6RAG4;Q53XI4;Q9NYD6 ABBA01008362;AC012531;AF255675;AK313759;AL558161;AMYH02026528;BC001293;BT009921;CH471054;NM_017409;X99684;X99685 AAF67759;AAH01293;AAP88923;ADZ15891;BAG36498;CAA67999;CAA68000;EAW96738;EAW96739;EAW96740;NP_059105;Q9NYD6 Hs.44276 1729021;2171265 Hoxc10;STS-N31842 HOX3I;MGC5259 OTTHUMP00000217387;homeo box C10;homeobox protein Hox-3I;homeobox protein Hox-C10;homeoprotein C10 APPROVED protein-coding ENSG00000180818 HGNC:5122 05710 605560 REVIEWED 1313485 HOXC11 homeobox C11 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 54016511 54019822 + 54366910 54370203 + 53973126 53976419 + 1580863;6480464 11857506;12477932;1358459;15489334;17207965;17488478;18029348;18654987;19322201;1973146;20145129;20211142;23275563;2574852;2878432;8646877;9357979;9582375 3227 J3KMZ0;O43248 ABBA01008361;AC012531;AJ000041;AK291946;AMYH02026528;BC001543;CH471054;NM_014212;X99630 AAH01543;ADQ31878;BAF84635;CAA03876;EAW96736;NP_055027;O43248 Hs.127562 1747989;1795996 G64260;HOXC11_450 HOX3H;MGC4906 OTTHUMP00000217351;OTTHUMP00000242939;homeo box C11;homeobox protein Hox-3H;homeobox protein Hox-C11 APPROVED protein-coding ENSG00000123388 HGNC:5123 09275 605559 REVIEWED 6480830 HOXC-AS1 HOXC cluster antisense RNA 1 12 12 q13.13 54392806 54393859 - 53999022 54000010 - 100874363 ABBA01008362;AC012531;AMYH02026528;NR_047504 Hs.555036 APPROVED ncrna ENSG00000250451 HGNC:43749 VALIDATED 6480827 HOXC13-AS HOXC13 antisense RNA ASSOCIATED WITH ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (inferred) 12 12 54329112 54333427 - 53935328 53939643 - 8554872 15146197 100874366 ABBA01008359;ABBA01008360;AC012531;AMYH02026528;BE905258;BX097788;BX363129;CN364530;HG504797;NG_033026;NR_047507 Hs.547385 HOXC-AS5 APPROVED ncrna ENSG00000249641 HGNC:43753 VALIDATED 1349214 HOXC13 homeobox C13 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 53982194 53989933 + 54332576 54340328 + 53938792 53946544 + 1580863;6480464;8699517;7240710;8554872 10674376;10835276;11118201;11857506;12461755;12477932;1358459;14702039;15385554;15489334;15617687;17331444;18692240;19182517;19665070;1973146;20211142;20460270;20661663;20935629;21906983;22583695;23063621;23315978;23461661;23648065;24085196;2574852;2878432;8646877;9357979 3229 P31276;Q86TI1 AA722686;ABBA01008360;AC012531;AF255676;AF263466;AK024027;AMYH02026528;BC002754;BC090850;BT009908;BU158600;CH471054;NG_033026;NM_017410;X99679 AAF67760;AAF73439;AAH90850;AAP88910;BAB14786;CAA67995;EAW96734;NP_059106;P31276 Hs.118608 1675029;1718531;1757423;1795998 HOXC13_133;RH122467;SHGC-144808;STS-AA024448 ECTD9;HOX3;HOX3G NUP98/HOXC13;OTTHUMP00000217349;homeo box 3G;homeobox protein Hox-3G;homeobox protein Hox-C13 APPROVED protein-coding ENSG00000123364 HGNC:5125 00862 142976;614931 REVIEWED 1344989 HOXC5 homeobox C5 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 54060259 54078762 + 54410642 54429145 + 54016852 54035361 + 1580863;6480464 11857506;12477932;1346761;1358459;15146197;16215934;16341674;16344560;18029348;1973146;21890473;22504420;2574852;2576652;2878432;2898768;7913891;8646877 3222 Q00444;Q14543 ABBA01008362;AC012531;AC023794;AMYH02026528;AMYH02026529;BC034922;BC044635;BE255323;BM786543;CH471054;CN309383;DA747240;NG_029818;NM_018953;NR_003084;X52402;X61755 AAI40273;AAI41644;CAA36647;CAA43894;EAW96745;EAW96748;NP_061826;Q00444 Hs.549040 1656467;1744017;1747713;1769098;1769742;1797702;1854213;2110537;2110549;2182084 D12S1961;G64243;GDB:384845;HOXC5_135.2;MARC_44017-44022:1098368610:3;MARC_46193-46194:1108499233:1;RH65687;STS-M16938;STS-S82986;STS-X61755 CP11;HOX3;HOX3D OTTHUMP00000217386;homeo box C5;homeobox protein CP11;homeobox protein Hox-3D;homeobox protein Hox-C5 APPROVED protein-coding ENSG00000172789 HGNC:5127 00859 142973 REVIEWED 1351931 HOXC4 homeobox C4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 54060259 54098621 + 54388716 54449814 + 54016852 54056030 + 1580863;6480464;8554872 11279128;11857506;12477932;12672812;1358459;15252056;15674412;16215934;16344560;16582099;17207965;19236766;19363484;1973146;20855884;21988832;22298821;22504420;23275563;23455924;23503679;2574852;2576652;2878432;2898768;7566098;7718879;7915745;8646877;9327740 3221 P09017;Q86TF7 AA331371;AA621965;AA805317;ABBA01008362;AC012531;AC023794;AI200419;AMYH02026528;AMYH02026529;AMYH02026530;AY014297;AY014298;BC050442;BQ893403;CA432146;CH471054;DA905719;NG_029818;NM_014620;NM_153633;X07495 AAG42145;AAH50442;ADQ33042;CAA30376;EAW96744;EAW96749;NP_055435;NP_705897;P09017 Hs.549040 1334897;1656467;1744017;1747713;1769098;1769742;1797702;1854213;2110537;2110549;2182084;5491384;5494208;7186259 D12S103;D12S1961;G64243;GDB:384845;HOX3A;HOXC5_135.2;Hoxc4;MARC_44017-44022:1098368610:3;MARC_46193-46194:1108499233:1;RH65687;STS-M16938;STS-S82986;STS-X61755 HOX3;HOX3E;cp19 OTTHUMP00000217392;OTTHUMP00000217393;homeo box 3E;homeo box C4;homeobox protein CP19;homeobox protein Hox-3E;homeobox protein Hox-C4 APPROVED protein-coding ENSG00000198353 HGNC:5126 00860 142974 REVIEWED 1321500 HOXC12 homeobox C12 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 53998317 53999953 + 54348714 54350350 + 53954930 53956566 + 1580863;6480464 11857506;1358459;1973146;2574852;9357979 3228 P31275 ABBA01008361;AC012531;AF328962;AF328963;AK125569;AMYH02026528;CH471054;NM_173860;X99631 AAI60004;AAK16717;EAW96735;NP_776272;P31275 Hs.381267;Hs.587727 HOC3F;HOX3;HOX3F OTTHUMP00000217350;homeo box 3F;homeo box C12;homeobox protein Hox-3F;homeobox protein Hox-C12 APPROVED protein-coding HGNC:5124 00861 142975 REVIEWED 1348360 HOXC6 homeobox C6 This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 54060259 54074224 + 54410642 54424607 + 54016852 54030823 + 1580863;6480464 11857506;12477932;1358459;15489334;15637592;15839736;16344560;17488478;19236766;1973146;21683083;21832049;21890473;21906983;22504420;22896703;22907429;23581417;24250222;24525058;2574852;2576652;2878432;2885844;2898768;7738096;8646877;8870653;8890171 3223 D6RBH4;D6RC34;P09630 ABBA01008362;AC012531;AK314829;AMYH02026528;AMYH02026529;AW445186;BC074844;BC074845;BF034547;BF058345;BF108967;BF434131;CH471054;CR456954;DA996894;M16938;NG_029818;NM_004503;NM_153693;S82986 AAA36007;AAB46892;AAH74844;AAH74845;ABZ92011;BAG37349;CAG33235;EAW96746;EAW96747;NP_004494;NP_710160;P09630 Hs.549040 1656467;1747713;1769098;1854213;2110537;2110549;5492695 G64243;MARC_44017-44022:1098368610:3;MARC_46193-46194:1108499233:1;RH65687;STS-M16938;STS-S82986;UniSTS:482059 CP25;HHO.C8;HOX3;HOX3C OTTHUMP00000217382;OTTHUMP00000217383;OTTHUMP00000217385;homeo box 3C;homeo box C6;homeo box C8 protein;homeobox protein CP25;homeobox protein HHO.C8;homeobox protein Hox-3C;homeobox protein Hox-C6 APPROVED protein-coding ENSG00000197757 HGNC:5128 00858 142972 REVIEWED 1353627 HOXC8 homeobox C8 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 54052507 54056164 + 54402890 54406547 + 54009106 54012763 + 1580863;6480464 10224145;10617598;10722652;11139569;11551904;11813208;11857506;12477932;12925734;1358459;14973489;15489334;15960974;16637071;17474147;1973146;20736365;21047772;21712827;24525058;2574852;2576652;2878432;2885844;2886047;8104467;8646877;9111364;9357979 3224 P31273 ABBA01008362;AC012531;AK290959;AMYH02026528;AY014299;AY014300;BC053898;BU156590;BU618342;CH471054;NM_022658;X99680;X99681 AAG42146;AAH53898;BAF83648;CAA67996;CAA67997;EAW96743;NP_073149;P31273 Hs.664500 1729023;1797704;2110535;2110539;5492100 HOXC8_2494;Hoxc8;MARC_41665-41666:1086710236:1;MARC_43876-43875:1099078210:3;MARC_44360-44361:1099347855:1 HOX3;HOX3A Hox-3.1, mouse, homolog of;OTTHUMP00000217389;homeo box 3A;homeo box C8;homeobox protein Hox-3A;homeobox protein Hox-C8 APPROVED protein-coding ENSG00000037965 HGNC:5129 00856 142970 REVIEWED 1345222 HOXC@ homeo box C cluster 1358459;1973146 3220 HGNC:5121 1314056 HOXC9 homeobox C9 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 54043494 54046738 + 54393877 54397121 + 54000093 54003337 + 1580863;6480464;8554872 11857506;12477932;14702039;14973489;15489334;17207965;17588684;18305892;19506903;1973146;20211142;21493894;21507931;22106857;23579273;24274069;2574852;2576652;2878432;7967520;8570656;8646877;9357979 3225 P31274;Q8N561 ABBA01008362;AC012531;AK000445;AK315194;AMYH02026528;AY014301;AY014302;BC021265;BC032769;BC053894;CH471054;NM_006897;X99682 AAG42151;AAH32769;AAH53894;ADQ32563;BAG37634;CAA67998;EAW96741;EAW96742;NP_008828;P31274 Hs.658823 1797706;2110101;2110541;2131533;2180065 HOXC9_2416;MARC_44775-44776:1100041323:1;RH68776;SGC35159;UniSTS:468838 HOX3;HOX3B OTTHUMP00000217390;OTTHUMP00000217391;homeo box C9;homeobox protein Hox-3B;homeobox protein Hox-C9 APPROVED protein-coding ENSG00000180806 HGNC:5130 00857 142971 REVIEWED 5688612 HOXD-AS2 HOXD cluster antisense RNA 2 2 2 2 q31.1 170608515 170611003 - 176984724 177001826 - 176134841 176137098 - 12477932 100506783 ABBA01062219;AC009336;AMYH02005297;BC009347;BC034000;HG494905;HG494906;NR_038435 Hs.667234 APPROVED ncrna HGNC:43756 VALIDATED 1346896 HOXD11 homeobox D11 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 170581234 170583461 + 176971721 176976563 + 176106993 176111835 + 1580863;6480464 10075849;10364522;11060466;11493536;11778160;11782354;11857506;12217321;12357469;12477932;1358459;17236141;19255789;19453261;19540081;1973146;19938081;20085705;2574852;8890171;9323126;9343407 3237 P31277 ABBA01062216;ABBA01062217;AC009336;AF154915;AMYH02005296;AMYH02005297;BC109394;BE260674;CH471058;NG_008133;NM_021192;XR_241309 AAF79045;AAI09395;AAI60135;EAX11092;NP_067015;P31277 Hs.421136 1797708;5492601;5492811 HOXD11_2590;UniSTS:481748;UniSTS:482718 HOX4;HOX4F Hox-4.6, mouse, homolog of;OTTHUMP00000217528;homeo box 4F;homeo box D11;homeobox protein Hox-4F;homeobox protein Hox-D11 APPROVED protein-coding ENSG00000128713 HGNC:5134 00869 142986 REVIEWED 1315169 HOXD10 homeobox D10 This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 170590637 170593821 + 176981492 176984670 + 176116764 176119942 + 1580863;6480464;7240710;8554872;8699517 10364522;10523646;11060466;11585930;11778160;11857506;12357469;12466126;12477932;12954737;1351871;1358459;1363084;14973489;15146389;15368082;15489334;16103068;16331564;17236141;17417092;1756725;18922890;19453261;1973146;1981366;21419107;22160393;22293682;22842189;23670532;24376640;24529757;25010866;2574852;2576652;7913891;7967520;8100684;8890171;9773404 3236 P28358 AA653427;ABBA01062217;AC009336;AI651040;AL526269;AMYH02005297;AW243295;AW299531;BC069619;BC074760;BX114645;CH471058;NG_008133;NM_002148;X59373 AAH69619;AAH74760;ABZ92012;CAA42017;EAX11091;NP_002139;P28358 Hs.123070 1729025;1742163 GDB:192883;Hoxd9 HOX4;HOX4D;HOX4E;Hox-4.4 OTTHUMP00000163335;homeo box 4D;homeo box D10;homeobox protein Hox-4D;homeobox protein Hox-4E;homeobox protein Hox-D10 APPROVED protein-coding ENSG00000128710 HGNC:5133 00867 142984;192950 REVIEWED 1320327 HOXD12 homeobox D12 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 170573680 170574638 + 176964530 176965488 + 176099802 176100760 + 1580863;6480464 10364522;11036080;11060466;11585930;11778160;11857506;12357469;12477932;1358459;16331564;1675198;17236141;19453261;19540081;1973146;19938081;20085705;2574852;9323126;9343407 3238 B5MCD3;P35452 ABBA01062216;AC009336;AF154915;AMYH02005296;BC069088;BC121103;BC121104;BG031716;CH471058;NM_021193 AAF79044;AAI21104;AAI21105;EAX11093;EAX11094;NP_067016;P35452 Hs.450028 5493955 UniSTS:480513 HOX4H Hox-4.7, mouse, homolog of;OTTHUMP00000217531;OTTHUMP00000217532;homeo box D12;homeobox protein Hox-4H;homeobox protein Hox-D12 APPROVED protein-coding ENSG00000170178 HGNC:5135 00871 142988 REVIEWED 1344554 HOXD3 homeobox D3 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 170637984 170647006 + 177001669 177043737 + 176136999 176173101 + 1580863;6480464 10364522;10648567;11060466;11857506;12405287;12477932;12836255;1358204;1358459;14610084;14633614;15489334;15545924;1712489;17126050;17785556;19283074;19453261;1973146;19938081;20211142;20212450;20852632;21207416;22935821;23088713;23382691;24847526;2574852;2576652;2886047;7742539;7913891;8890171;9520319 3232 C9J1M3;P31249 ABBA01062219;ABBA01062220;AC009336;AMYH02005297;BC005124;BC008789;CH471058;D11117;NM_006898;XM_005246509;XM_005246510;XM_005246511;XM_005246512;XM_005246513;XM_006712477;Y09980 AAH05124;AAH08789;ABM83900;ABM87221;BAA01891;CAA71102;EAX11085;NP_008829;P31249;XP_005246566;XP_005246567;XP_005246568;XP_005246569;XP_005246570;XP_006712540 Hs.93574 1660489 RH69263 HOX1D;HOX4;HOX4A;Hox-4.1;MGC10470 Hox-4.1, mouse, homolog of;OTTHUMP00000163342;OTTHUMP00000205238;OTTHUMP00000217533;homeo box D3;homeobox protein Hox-4A;homeobox protein Hox-D3 APPROVED protein-coding ENSG00000128652 HGNC:5137 00863 142980 REVIEWED 1319375 HOXD1 homeobox D1 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 170662486 170664814 + 177053307 177055635 + 176188579 176190907 + 1580863;6480464 10364522;10908280;11060466;11455954;11731253;11857506;12477932;1358459;19453261;1973146;19938081;20211142;20852632;21501586;22930747;23535375;2576652;7501971;7913891;8104620 3231 Q96CA4;Q9GZZ0 ABBA01062220;AC009336;AF202118;AF241528;AK314120;AMYH02005298;BC014477;BC028190;CH471058;KC832801;NM_024501;XM_005246507 AAG29939;AAG44444;AAH14477;AAH28190;ABM83163;ABM86363;BAG36811;EAX11080;NP_078777;Q9GZZ0;XP_005246564 Hs.83465 1643794;1796000 HOXD1_1231;RH68884 HOX4;HOX4G;Hox-4.7 OTTHUMP00000163336;homeo box 4G;homeo box D1;homeobox protein Hox-D1;homeobox protein Hox-GG APPROVED protein-coding ENSG00000128645 HGNC:5132 00870 142987 REVIEWED 1351859 HOXD8 homeobox D8 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010] 2 2 2 q31.1 170603640 170605908 + 176994422 176997423 + 176129694 176132695 + 1580863;6480464 10364522;11060466;11857506;12357469;12477932;1351871;1358459;18985028;19453261;1973146;19825936;19938081;21900206;2568311;7501971;7913891;8100165;8890171 3234 P13378 ABBA01062218;ABBA01062219;AC009336;AL530925;AMYH02005297;AW140108;AY014303;BC038709;BC090853;BI764317;BQ429720;CH471058;NM_001199746;NM_001199747;NM_019558;X15507 AAG42152;AAH38709;AAH90853;CAA33529;EAX11089;NP_001186675;NP_001186676;NP_062458;P13378 Hs.301963;Hs.700870 2151209;2177609;2218550 HOXD8_4104;RH18089;SHGC-52388 HOX4;HOX4E;HOX5.4 Hox-4.5;Hox-4.5, mouse, homolog of;OTTHUMP00000163337;OTTHUMP00000205236;OTTHUMP00000205237;homeo box 4E;homeo box D8;homeobox protein 5.4;homeobox protein Hox-4E;homeobox protein Hox-5.4;homeobox protein Hox-D8 APPROVED protein-coding ENSG00000175879 HGNC:5139 00868 142985 REVIEWED 1320172 HOXD4 homeobox D4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 170625292 170627130 + 177015122 177017951 + 176150394 176153223 + 1580863;6480464;7240710 10364522;10523646;11060466;11279128;11585930;11778160;11857506;12477932;1358459;15489334;15776434;19232136;19453261;1973146;1975093;19938081;20211142;20686522;2576652;2879245;7913891;9748262 3233 P09016 ABBA01062219;AC009336;AK313885;AMYH02005297;BC016763;BC074797;CH471058;NG_012080;NM_014621;X04706;X17360;XM_005246514 AAH16763;AAH74797;BAG36610;CAA28411;CAA35237;EAX11086;NP_055436;P09016;XP_005246571 Hs.591609 1665204;5492681;5494035 STS-X17360;UniSTS:480790;UniSTS:482013 HHO.C13;HOX-5.1;HOX4;HOX4B;Hox-4.2 Hox-4.2, mouse, homolog of homeo box X;OTTHUMP00000163340;homeo box d4;homeobox protein HHO.C13;homeobox protein Hox-4B;homeobox protein Hox-5.1;homeobox protein Hox-D4 APPROVED protein-coding ENSG00000170166 HGNC:5138 00864 142981 REVIEWED 1349678 HOXD@ homeo box D cluster 1358459;1973146 3230 HGNC:5131 1318172 HOXD13 homeobox D13 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 170566680 170569816 + 176957532 176960666 + 176092804 176095938 + 1599534;1580863;6480464;7240710;8554872;8699517 8817328 11060466;11329013;11585930;11778160;11857506;12357469;12414828;12620993;12649808;12900906;1358459;15617687;15696469;15952114;16087734;16222680;16331564;1675198;16861351;17216618;17236141;17656229;17853405;18072967;18244901;18399101;18566322;18758158;19060004;19453261;19488988;19540081;19686284;19703996;1973146;20386744;20974300;21068127;21139048;21814222;21890473;22161087;22373878;22374128;22406499;22613470;23948678;23958061;23984819;24055421;2574852;7581388;8614804;9005557;9207113;9323126;9758628 3239 P35453 AB032481;ABBA01062216;AC009336;AF005219;AF005220;AMYH02005296;BG204577;BX100910;CH471058;NG_008137;NM_000523 AAC51635;AAI48864;AAI52761;BAA95352;EAX11095;NP_000514;P35453 Hs.152414 1793592;1793594;1793596;2190749;2217450 HOXD13_3043;PMC23843P1;PMC23843P2;PMC23843P3;UniSTS:265598 BDE;BDSD;HOX4I;SPD OTTHUMP00000217534;homeo box 4I;homeo box D13;homeobox protein Hox-4I;homeobox protein Hox-D13 APPROVED protein-coding ENSG00000128714 HGNC:5136 00872 113200;113300;142989;186000;186300;192350;610713 REVIEWED 1354432 HOXD9 homeobox D9 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 170596564 170598796 + 176987413 176989645 + 176122685 176124917 + 1580863;6480464 10364522;10523646;10642795;11060466;11778160;11857506;12060849;12477932;12520199;1358459;15770739;17236141;1756725;19453261;1973146;19938081;20211142;20700443;21600039;21988832;22520331;23984819;24014427;2568311;2574852;7779685;7926763;8889548;8890171;9079695 3235 P28356 ABBA01062218;AC009336;AI264311;AMYH02005297;BC044855;BF055327;BU732638;CH471058;NG_009225;NM_014213;X15506;X59372 AAH44855;CAA33528;CAA42016;EAX11090;NP_055028;P28356 Hs.236646 1729025;1796002;2113488;2153909 HOXD9_1230;Hoxd9;RH18119;UniSTS:474753 HOX4;HOX4C;Hox-4.3;Hox-5.2 Hox-4.3, mouse, homolog of;OTTHUMP00000163341;homeo box D9;homeobox protein Hox-4C;homeobox protein Hox-5.2;homeobox protein Hox-D9 APPROVED protein-coding ENSG00000128709 HGNC:5140 00865 142982 REVIEWED 1353721 HPC1 hereditary prostate cancer 1 ASSOCIATED WITH PROSTATE CANCER, HEREDITARY, 1 (inferred) 7240710 8910276;9497242 5513 AF172072 2293407;2293442;2299879;2299880;2299882 PRSTS198_H;PRSTS277_H;PRSTS312_H;PRSTS313_H;PRSTS314_H HGNC:5143 601518 735421 HPCA hippocalcin The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008] 1 1 1 p35-p34.2 31620733 31628882 + 33351688 33360247 + 32886087 32894646 + 728546;6480464 8166736 10899114;11836243;11964161;12477932;1280427;14638856;15489334;16053445;17286855;19332348;19686238;21890473;21906983;22544757;23443559;24816145;8360179;8387172;9427749;9931466 3208 P84074;Q5U068 AB015202;ABBA01023392;AC114493;AK313907;AMYH02000723;BC001777;BT019750;BT019789;CH471059;D16593;DQ426877;NM_002143;XM_005270792 AAH01777;AAV38555;AAV38592;ABD90537;ACE87079;ACE87759;BAA04019;BAA74456;BAG36630;EAX07494;EAX07495;EAX07496;EAX07497;EAX07498;NP_002134;P84074;XP_005270849 Hs.632391 1656138;1667513;1730253;2155748 D1S285E;G29323;G34862;RH15950 BDR2 OTTHUMP00000004138;calcium-binding protein BDR-2;neuron specific calcium-binding protein hippocalcin;neuron-specific calcium-binding protein hippocalcin APPROVED protein-coding ENSG00000121905 HGNC:5144 00811 142622 REVIEWED 1606796 HP1BP3 heterochromatin protein 1, binding protein 3 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN nucleosome assembly (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (S)-nicotine; 2-methylcholine; paracetamol 1 1 1 p36.12 19394945 19438922 - 21069170 21113808 - 20742678 20787315 - 6480464;8554872 12477932;14702039;19165527;19394292;19454010;19471022;20042602;20379614;20800603;21139048;21145461;21252943;21693764;21832049;21890473;21907836;22412018;22586326;22623428;22751105;22939624;22939629;22990118;23000965;23443559;23455922;23940030;24250222;24457600;24654937;24778252;24816145;25027693 50809 B0QZK4;B0QZK5;B0QZK6;B0QZK7;B0QZK8;B0QZK9;Q5SSJ5;Q5SWC8;X6RGJ2 ABBA01059794;ABBA01059795;AF113534;AK023129;AK025754;AK291252;AK303456;AK304065;AL606477;AL663074;AL833978;AMYH02000433;AX882595;BC032139;BC045660;BC046170;BC053327;BE247224;BM312215;CH471134;CK000759;NM_016287;XM_005245875;XM_005245876;XM_005245877;XM_005245878;XM_005245879;XM_005245882;XR_426610 AAF14871;AAH32139;AAH45660;ACE87698;BAF83941;BAG51160;BAG64500;BAG64972;CAD38822;CAE91644;EAW94950;EAW94951;EAW94952;EAW94953;NP_057371;Q5SSJ5;XP_005245932;XP_005245933;XP_005245934;XP_005245935;XP_005245936;XP_005245939 Hs.142442 1646057;1719393;2146663;2182249;5020881;5021369;5037552;5125266;5491738 D8S2279;G34827;HP1BP3;L17709;L17796;RH123425;RH16441;SHGC-33541;SHGC-74324 HP1-BP74;MGC43701;RP5-930J4.3 OTTHUMP00000002716;OTTHUMP00000002717;OTTHUMP00000002719;OTTHUMP00000002720;heterochromatin protein 1-binding protein 3 protein-coding ENSG00000127483 HGNC:24973 11026 VALIDATED 737269 HP haptoglobin This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. The protein encoded also exhibits antimicrobial activity against bacteria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] 16 16 16 q22.2 56402627 56409074 + 72088470 72094955 + 72054566 72061056 + 1626355;1626365;1626394;1626335;1626340;1626361;1626378;1626350;1626353;1626356;1626362;1626381;1626348;1626351;1626344;1626352;1626363;1626370;1626374;1626375;1626391;1626341;1626346;1626366;1626337;1626342;1626349;1626354;1626360;1626367;1626339;1626343;1626345;1626347;1626376;5147383;5147418;5147419;5147385;5147442;5147420;5147384;5147444;5147425;5144216;5144151;5147440;5147416;6480464;5509920 10569800;10606363;11072799;11521461;11807829;12468764;12540619;12669191;12801280;12940443;15181041;15899029;16360363;16673012;16775491;16879055;16944942;16968543;17007284;17068284;17161237;17187421;17203959;17220952;17446058;17598972;19023114;19396720;19566548;19703762;19943874;20016403;2043024;20957478;21169467;21388634;21471098;21595649;2613263;3094379;3690840;3990081;6218601;7281841;7606649;8228210;884791;9435654 10493829;11109501;11196644;11380078;11427216;11436564;11529861;11564959;11565553;11854028;11865978;11865979;11865981;11865982;11909563;11967116;12018475;12074569;12113290;12174790;12187922;12372461;12388365;12477932;12754519;12792358;12867276;12938813;12941730;12941748;12942785;14597045;14616769;14629808;14657203;14702039;14711515;14718574;14760718;1478675;14967153;14999562;15019547;15049697;15103512;15174051;15274115;15306193;15333469;15385675;15489334;15490286;15866595;15960705;16009149;16086594;16099106;16123372;16176058;16224193;16335952;16407342;16436647;16502470;16637741;16644889;16676348;16681422;16712791;16740002;17082477;17087019;17102136;17220636;17275123;17304451;17357835;17426810;17460152;17525367;17678914;17764509;17822661;17880628;17910034;17918239;18032779;18075673;18082523;18257091;18258668;18291005;18332093;18413152;18554871;18563533;18583979;18624398;18636124;18691072;18760271;18787013;18848136;18951869;18959750;19056867;19074141;19101688;19108738;19131549;19171342;19210891;19259359;19291877;19296479;19296903;19306859;19322201;19347351;19356838;19367581;19379511;19402793;19404920;19433579;19440331;19444643;19446743;19455468;19457062;19463740;19472074;19474129;19569002;19569003;19682981;19720796;19740759;19743954;19751729;19758344;19785722;19801537;19804773;19805376;19879940;19913121;19956848;20017911;20064496;20066028;20109103;20351714;20360068;20368232;20371432;20372805;20376581;20417195;20444272;20521439;20552021;20587610;20602615;20628086;20686565;20822092;20877498;20881411;20926521;20943062;20972727;21053180;21103663;21147083;21159311;21224490;21240070;21248165;21253648;21262313;21287512;21294680;21296538;21297956;21315066;21316675;21323605;21380457;21401731;21434877;21507405;21546768;21555971;21651321;21708824;21748360;21755356;21767674;21866866;21953030;21953462;21986563;21988832;22028908;22098782;22219064;22290142;22300541;22403646;22433445;22447230;22573378;22629362;22731712;22901189;22916037;22923205;22939808;23016887;23164167;23223086;23262373;23268292;23272204;23283045;23312704;23385359;23389048;23389049;23399657;23420675;23457771;23498376;23536133;23563546;23573260;23638175;23671278;23701120;23990521;24018448;24075749;24078632;24120528;24130793;24286083;24286153;24342402;24478401;24497482;24567965;24974683;2787245;2820712;2987228;3455911;3519135;4018023;4573324;6310515;6310599;6325933;6330675;6546723;6688992;6997877;7036344;7378053;8889549;8945641;9352226;9463309 3240 H0Y300;H3BMJ7;H3BS21;J3KRH2;J3KSV1;J3QLC9;J3QQI8;J3QR68;P00738;Q6PEJ8 ABBA01016797;AC004682;AC009087;AK055872;AK314700;AMYH02032334;BC017862;BC058031;BC070299;BC107587;BC121124;BC121125;CB117006;CB134891;CH471166;DQ314870;K00422;K01763;L29394;M10935;M69197;NG_012651;NM_001126102;NM_005143;T71743;X00606;X00637;X01793;XM_005255922 AAA52684;AAA52685;AAA52687;AAA88078;AAA88080;AAC27432;AAH17862;AAH58031;AAH70299;AAI07588;AAI21125;AAI21126;ABC40729;BAF98793;BAG51589;CAA25248;CAA25267;CAA25926;EAW59194;EAW59195;EAW59196;EAW59197;NP_001119574;NP_005134;P00738;XP_005255979 Hs.513711;Hs.702099 1657479;1686362;1741353;1741599;1741647;1769001;1796006;2158686;5037552 D8S2279;GDB:180916;GDB:181556;GDB:181606;HP_143;RH70305;RH79153;SHGC-61149;hshp1g5 BP;HP2-ALPHA-2;HP2ALPHA2;HPA1S;MGC111141 binding peptide;haptoglobin alpha(1S)-beta;haptoglobin alpha(2FS)-beta;haptoglobin, alpha polypeptide;haptoglobin, beta polypeptide;zonulin APPROVED protein-coding ENSG00000257017 HGNC:5141 00772 140100;614081 REVIEWED 1348718 HPCAL4 hippocalcin like 4 The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. The transcript of this gene has multiple polyadenylation sites. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] 1 1 1 p34.2 38426386 38438833 - 40144320 40157382 - 39678648 39691710 - 6480464 10520747;11076863;11230166;11256614;12477932;15489334;15489336;16189514;16344560;16381901;16710414;20379614;21900206;24035498;8889548 51440 B4DG51;B4DGW9;Q9UM19 AB001105;ABBA01023203;ABBA01023204;AK294412;AK294813;AK312314;AL035404;AL136591;AMYH02000837;BC030827;BM669991;CH471059;DA107675;DA220121;DC333158;HY156854;NM_001282396;NM_001282397;NM_016257 AAH30827;ABM83266;ABM86471;BAA86892;BAG35239;BAG57662;BAG57930;CAB66526;CAL37539;CAL38465;EAX07257;EAX07258;NP_001269325;NP_001269326;NP_057341;Q9UM19 Hs.743975 1649740;1675045;2154190;2181879 D1S1805E;RH78210;SHGC-74640;WI-12211 DKFZp761G122;HLP4 OTTHUMP00000010835;hippocalcin-like protein 4 APPROVED protein-coding ENSG00000116983 HGNC:18212 17113 REVIEWED 1345191 HPCX hereditary prostate cancer, X-linked ASSOCIATED WITH PROSTATE CANCER, HEREDITARY, X-LINKED 1 (inferred) 7240710 9771711 9566 1340800;5112470;7186795 DXS1113;DXS984 2293413 PRSTS210_H HGNC:5146 300147 1606204 HPDL 4-hydroxyphenylpyruvate dioxygenase-like ENCODES a protein that exhibits 4-hydroxyphenylpyruvate dioxygenase activity (inferred); metal ion binding (inferred); INVOLVED IN aromatic amino acid family metabolic process (inferred); oxidation-reduction process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 1 1 1 p34.1 44075922 44077724 + 45792545 45794347 + 45326873 45328675 + 6480464;8554872 12477932;15489334;16710414;21294693;22939629;24583282 84842 Q96IR7 ABBA01050883;AI808699;AK313714;AL359540;AMYH02000924;BC007293;BQ069740;CH471059;NM_032756 AAH07293;BAG36457;EAX07002;NP_116145;Q96IR7 Hs.162717 1339661 D1S2677 4-HPPD-L;GLOXD1;MGC15668;RP4-534D1.1 4-hydroxyphenylpyruvate dioxygenase-like protein;OTTHUMP00000009095;glyoxalase domain containing 1;glyoxalase domain-containing protein 1 protein-coding ENSG00000186603 HGNC:28242 17509 VALIDATED 731782 HPD 4-hydroxyphenylpyruvate dioxygenase The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 12 12 12 q24.31 121913690 121962455 - 122277433 122326517 - 121839527 121888611 - 1580863;1300048;6480464;6907045;7240710;8554872;8699517 10942115;11073718;12107413;12477932;14702039;15489334;17560158;18781797;19056867;21572414;21890473;21963094;21988832;23251661;23950902;7851880;8504803;8521727;9325050 3242 P32754 ABBA01020185;ABBA01020186;ABBA01020187;ABBA01020188;ABBA01020189;ABBA01020190;AC069503;AC079360;AK057510;AK290826;AMYH02027404;AMYH02027405;BC014790;BC024287;CD675915;CH471054;D31628;NG_016461;NM_001171993;NM_002150;U29895;X72389 AAC73008;AAH24287;ABM83590;ABM87048;BAA06498;BAF83515;BAG51925;CAA51082;EAW98291;EAW98292;NP_001165464;NP_002141;P32754 Hs.2899 1341011;1722835;1744459;1744461;1857832;2150262 D12S1349;G60359;GDB:455126;GDB:455130;RK1290_1291;STS-U29895 4-HPPD;4HPPD;GLOD3;PPD 4-hydroxyphenylpyruvic acid dioxygenase;4-hydroxyphenylpyruvic acid oxidase;HPPDASE;OTTHUMP00000240051;OTTHUMP00000240052;glyoxalase domain containing 3 APPROVED protein-coding ENSG00000158104 HGNC:5147 02041 140350;276710;609695 REVIEWED 1351929 HPE1 holoprosencephaly 1, alobar ASSOCIATED WITH Holoprosencephaly (inferred) 7240710 7485157 3244 HGNC:5149 236100 1348150 HPCAL1 hippocalcin-like 1 The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012] 2 2 2 p25.1 10358819 10483521 + 10443015 10567743 + 10302889 10427617 + 1580863;6480464;8554872 10683417;10851344;11076863;11173883;11964161;12445467;12477932;14694264;14739275;15489334;15489336;15834280;16189514;16381901;16703469;16713569;20098747;21059989;21139048;21182205;21890473;21906983;23443559;23873030;24816145;25019684;8038222;8387172;8619474;9110174 3241 C9JW46;E9PC71;H7BZC1;O75544;P37235;Q6FGY1 ABBA01015611;ABBA01015612;ABBA01015613;ABBA01015614;AC007240;AC007249;AF070616;AK000596;AK292280;AMYH02003266;BC009846;BC017028;BC017482;BI601950;BI603158;BT009835;BU145561;CH471053;CR541975;CR749837;D16227;NM_001258357;NM_001258358;NM_001258359;NM_002149;NM_134421;XM_005246160;XM_005246161;XM_005246162;XM_005246163;XM_006711885;XR_426955 AAC25387;AAH09846;AAH17028;AAH17482;AAP88837;AAY15033;BAA03754;BAF84969;CAG46773;CAH18693;CAL37431;CAL37471;CAL37587;CAL37806;CAL38180;CAL38266;EAX00960;EAX00961;EAX00962;EAX00963;EAX00964;EAX00965;EAX00966;NP_001245286;NP_001245287;NP_001245288;NP_002140;NP_602293;P37235;XP_005246217;XP_005246218;XP_005246219;XP_005246220;XP_006711948 Hs.580427;Hs.741268 1339065;1671428;1674779;1763067;2119958;2131679;2132571;2153588;5014051;5021872;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D2S1802;D2S398;D8S2278;D8S2279;G16363;L18426;RH11957;RH17383;RH69378;SHGC-146803;WI-14664;sY3084 BDR1;HLP2;VILIP-3 OTTHUMP00000115513;OTTHUMP00000115514;calcium-binding protein BDR-1;hippocalcin-like protein 1;visinin-like protein 3 APPROVED protein-coding ENSG00000115756 HGNC:5145 02564 600207 REVIEWED 1345391 HPFH2 hereditary persistence of fetal hemoglobin, heterocellular, Indian type 3247 HGNC:5153 142335 1352750 HPLH1 hemophagocytic lymphohistiocytosis 1 ASSOCIATED WITH Lymphohistiocytosis, Hemophagocytic (inferred) 7240710 9915955 27259 HGNC:23824 267700 732845 HPGDS hematopoietic prostaglandin D synthase Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. [provided by RefSeq, Jul 2008] 4 4 4 q22.3 92516831 92561280 - 95219707 95264027 - 94298556 94342876 - 68838;1300048;6480464;6907045;8552701;8552712;8554872 22679221;23063076;9323136 10781097;10824118;10998423;11068878;11672424;12002745;12477932;12627223;12707014;12895599;15113825;15489334;18029348;18341273;18946232;19124506;19181746;19247692;19276290;19913121;20074808;20628086;21683347;21821144;22049022;23666239;9353279;9425264;9475419 27306 O60760;Q4W5C6 AB008830;ABBA01063619;ABBA01063620;AC096746;AC109925;AC110297;AK290075;AMYH02009758;BC020734;CB988786;CH471057;CR541662;CR541679;D82073;NG_032150;NM_014485;XM_005262932 AAH20734;AAY40905;BAA25545;BAA96854;BAF82764;CAG46463;CAG46480;EAX06052;NP_055300;O60760;XP_005262989 Hs.128433 2109643 PGDS_9545 GSTS;GSTS1-1;PGD2;PGDS GST class-sigma;OTTHUMP00000161599;glutathione S-transferase sigma;glutathione-dependent PGD synthase;glutathione-dependent PGD synthetase;glutathione-requiring prostaglandin D synthase;hematopoietic prostaglandin D2 synthase;prostaglandin-H2 D-isomerase APPROVED protein-coding ENSG00000163106 HGNC:17890 04001 602598 REVIEWED 736886 HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 4 q34-q35 172740096 172772812 - 175411328 175444049 - 174490177 174522898 - 1580863;5688759;6480464;5688766;5688768;7240710;8554872;8699517 16195422;19494278;9603077 10198228;10650939;11702189;11889207;12144871;12477932;12664592;12679466;12788907;12914529;14718596;15181076;15489334;15531523;15574495;15581601;15680906;1635910;16632868;16828555;16880406;1697582;16997128;17463062;18029348;18174234;18212353;18328086;18500342;18593902;18632593;18660489;18805827;18987618;19010907;19027726;19034772;19056867;19138967;19306095;19336370;19568269;19584167;19608733;19667156;19667157;19820419;19913121;19917058;20042636;20086108;20093479;2025296;20299379;20304053;20452482;20628086;20635443;20643784;20673868;20689807;20699658;21047993;21072165;21281786;21426412;21469975;21832049;22072156;22082586;22197745;22416177;2337593;23430757;23506845;23625286;23687300;23717544;23954207;24471568;7557451;8157731;8482380;9048936;9099873;9920098 3248 D6RA66;D6RA83;D6RHF8;E9PBZ2;E9PD69;P15428 ABBA01070391;AC096751;AF177983;AI435471;AK058013;AK296642;AK300125;AK300524;AK300940;AK314624;AMYH02010531;AMYH02010532;BC007691;BC018986;CH471056;DC420578;DQ903072;GN344027;J05594;L76465;NG_011689;NM_000860;NM_001145816;NM_001256301;NM_001256305;NM_001256306;NM_001256307;U63296;X82460 AAA89174;AAA89175;AAB53034;AAF29493;AAH18986;ABI75347;BAG37190;BAG61916;BAG62236;BAG62569;BAH12408;CAA57843;CAY55949;EAX04734;EAX04735;EAX04736;EAX04737;NP_000851;NP_001139288;NP_001243230;NP_001243234;NP_001243235;NP_001243236;P15428 Hs.596913 1651945;1658159;1686278;1700684;1724637;2137034;2162295 D4S3150;RH103965;RH121319;SHGC-59688;SHGC-59842;SHGC-67317;STS-AA032211 15-PGDH;PGDH;PGDH1;PHOAR1;SDR36C1 15-hydroxyprostaglandin dehydrogenase;15-hydroxyprostaglandin dehydrogenase [NAD(+)];15-hydroxyprostaglandin dehydrogenase [NAD+];NAD+-dependent 15-hydroxyprostaglandin dehydrogenase;OTTHUMP00000218960;OTTHUMP00000219016;OTTHUMP00000219018;nad-dependent 15-hydroxyprostaglandin dehydrogenase;prostaglandin dehydrogenase 1;short chain dehydrogenase/reductase family 36C, member 1 APPROVED protein-coding ENSG00000164120 HGNC:5154 03406 119900;259100;601688 REVIEWED 7243049 HPN-AS1 HPN antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 19 19 19 q13.12 32263562 32310583 - 35549963 35597289 - 35059059 35106304 - 8554872 20205591;23022100 100128675 ABBA01018731;ABBA01018732;AC020907;AK124779;AK295317;AMYH02035973;AMYH02035974;AMYH02035975;HG510669;KC877717;NR_024561;NR_024562 BAC85944;BAG58294 Hs.633989 1336221;1649889;2144873;5016781;5022322 D11S2560;D19S1003;D19S893;D1S3531;SHGC-67307 ncrna ENSG00000227392 HGNC:47041 VALIDATED 732957 HPN hepsin This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 19 19 19 q13.12 32245008 32271054 + 35531410 35557481 + 35040506 35066577 + 1580863;6480464 11171558;11479199;12460890;12477932;12629351;12962630;14665873;14702039;15324701;15489334;15538223;15583422;15614436;15627507;15792801;15839837;16391794;16585186;16783571;16908524;16911458;17309599;17569629;17918732;18029348;18381435;18383840;18487557;18698500;18784072;18852137;1885621;19843851;19911255;20015050;20166135;20673210;21383634;21750652;21875933;22132769;22665141;23022100;23864651;25015289;2835076;7814421;8346233;9230195;9569208 3249 B7Z1L4;M0QZ63;M0R244;P05981 ABBA01018731;AC020907;AK091988;AK095160;AK293622;AK315655;AMYH02035973;AX207963;BC025716;EU644753;M18930;NM_002151;NM_182983;X07002;X07732;XM_005258838;XM_006723181;XM_006723182 AAA36013;AAH25716;ABM83045;ABM86240;ACD02430;BAG38021;BAH11550;CAA30058;CAA30558;CAC60387;NP_002142;NP_892028;P05981;XP_005258895;XP_006723244;XP_006723245 Hs.182385 1649889;1656489;2115914;2144873;2164084;2164973;5015861;5019070;5022450;7185938 D10S16;D10S275;D19S1003;D1S3531;G44334;RH65199;SHGC-33311;STS-L16242;STS-W87423 TMPRSS1 serine protease hepsin;serine protease hepsin catalytic chain;serine protease hepsin non-catalytic chain;transmembrane protease serine 1;transmembrane protease, serine 1 APPROVED protein-coding ENSG00000105707 HGNC:5155 00801 142440 REVIEWED 1343384 HPRT2 hypoxanthine phosphoribosyltransferase 2 3252 HGNC:5158 1347588 HPRTP1 hypoxanthine phosphoribosyltransferase pseudogene 1 6089358;87146452 3253 HGNC:5159 1343438 HPR haptoglobin-related protein This gene encodes a haptoglobin-related protein that binds hemoglobin as efficiently as haptoglobin. Unlike haptoglobin, plasma concentration of this protein is unaffected in patients with sickle cell anemia and extensive intravascular hemolysis, suggesting a difference in binding between haptoglobin-hemoglobin and haptoglobin-related protein-hemoglobin complexes to CD163, the hemoglobin scavenger receptor. This protein may also be a clinically important predictor of recurrence of breast cancer. [provided by RefSeq, Oct 2011] 16 16 16 q22.1 56411244 56425264 + 72097125 72111145 + 72063226 72077246 + 1580863;6480464;6907045 10085035;10493829;11752456;11814582;1478675;16682745;16712791;16778136;17360487;17845074;18974867;19324878;19913121;20628086;20686565;20800603;20805508;21103663;22001757;22403646;22433445;22916037;24097068;2876426;2987228;4018023;7716520;8889549;8945641;9461571 3250 J3KTC3;P00739 ABBA01016797;AC004682;AC009087;AMYH02032334;AV698541;BM547990;CB115435;CB147217;CH471166;H93376;K03431;M10935;M13908;M69197;N55255;NG_030311;NM_020995;T71114;X01794;XM_006721186 AAA52686;AAA88079;AAA88081;AAC27433;AAI60066;CAA25927;EAW59193;NP_066275;P00739;XP_006721249 Hs.655361 1661940;1741599;1741647;1769001;1792974;1792976;1792978;1796006;1851053;2117955;2123973;2125248;2158686;2220268 GDB:181556;GDB:181606;HP;HP_143;PMC17875P5;PMC17875P6;PMC17875P7;RH69592;RH70305;RH77931;SHGC-60783;SHGC-61149;SHGC-9008;STS-N39323 A-259H10.2;HP Haptoglobin-related locus APPROVED protein-coding ENSG00000261701 HGNC:5156 00773 140210 REVIEWED 1351283 HPRTP2 hypoxanthine phosphoribosyltransferase pseudogene 2 5 5 5 p13.3 30130006 30131113 + 30248481 30249588 + 30248374 30249481 + 1675192;6089358 3254 ABBA01066706;AC114300;AMYH02011105;NG_003031 pseudo HGNC:5160 INFERRED 1342808 HPRTP3 hypoxanthine phosphoribosyltransferase pseudogene 3 11 11 11 q 91019614 91020185 - 93731815 93732386 - 93998649 93999220 - 3255 ABBA01040035;AMYH02025368;AP002795;NG_007296 pseudo HGNC:5161 INFERRED 1345593 HPRTP4 hypoxanthine phosphoribosyltransferase pseudogene 4 11 11 11 q21 91011737 91012383 - 93723842 93724688 - 93990676 93991522 - 100128522 ABBA01040035;AMYH02025368;AP002795;NG_007297 pseudo HGNC:5162 INFERRED 1321513 HPS3 Hermansky-Pudlak syndrome 3 This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008] 3 3 3 q24 147257896 147301827 + 148847371 148891305 + 149129584 149173518 + 1599538;6480464;8699517;7240710;8554872 11455388 11590544;11707070;12125811;12477932;12847290;14702039;15030569;15489334;15632015;16159387;16417222;17365864;20301464;20562649;23084991;9497254 84343 G5E9V4;H7C5G2;Q969F9 ABBA01058947;AC021059;AC131209;AF375663;AK026357;AK055245;AK056575;AK291631;AK298478;AL832735;AL833878;AMYH02007884;AY033141;BC016901;BC022062;BC040359;BG618578;CH471052;NG_009847;NM_032383;XM_005247834;XM_006713788 AAH16901;AAH22062;AAH40359;AAK53457;AAK84131;ABM82104;ABM85286;BAB15459;BAB71221;BAF84320;BAG60689;CAD38735;EAW78885;EAW78886;EAW78887;EAW78888;NP_115759;Q969F9;XP_005247891;XP_006713851 Hs.558314;Hs.591311 1706560;1849047;1857745;2160274;2176521;2191383;2219810 D3S3906;HPS3__6583;MARC_21131-21132:1046275169:1;RH46381;SHGC-77441;SHGC-77445;SHGC-81259 DKFZp686F0413;FLJ22704 Hermansky-Pudlak syndrome 3 protein;OTTHUMP00000215796;OTTHUMP00000215797;SUTAL APPROVED protein-coding ENSG00000163755 HGNC:15597 05835 606118;614072 REVIEWED 731296 HPRT1 hypoxanthine phosphoribosyltransferase 1 The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009] X X X q26.1 133981004 134021522 + 133594175 133634698 + 134460145 134500668 + 1580863;1300048;5135488;5135485;5135035;6480464;6907045;7240710;8554872;8699517 20005278;3043317;6327016 10338013;10360366;11219770;11434773;11591653;11668636;11714443;11891689;12175903;12376523;12477932;12616531;12874812;1301916;14499622;14767555;1487231;15146465;15178494;15204312;15277709;15489334;15491638;1551676;15571220;15571222;15571223;15571224;15601998;15779006;15862283;15862284;15987524;15990111;16138897;16189514;16196087;16216473;16240158;16355393;16458330;16928426;16951156;17027311;17353931;17454734;17628775;17697207;17700363;17934765;18029348;18288319;18316217;1840476;18407966;18409516;18494542;18600506;18600559;18779430;18781797;18835879;19016344;19060904;19342420;1937471;19527031;19672249;19706768;19995283;20038437;20045992;2018042;20301328;20301334;20536392;20544509;20544510;20544511;20639865;2071157;20981450;21139048;21145461;21305049;21486037;21780909;21890473;21906983;21963094;21987572;22042773;22053931;22132982;22132984;22132986;22183764;22331909;22360420;2246854;22863883;22880027;22939629;23000965;23348497;2341149;23473102;2347587;2358296;23728617;23907213;24075303;24654937;2738157;2760209;2835825;2896620;2909537;2910902;2928313;3008106;3023844;3148064;3198771;3265398;3320967;3358423;3384338;3527873;3909940;3921964;6087154;6204922;6300847;6309910;6343377;6572373;6706936;6853490;6853716;6930669;7107641;7627191;8044844;8485579;8524221;8643611;9003484;9521733;9824441 3251 P00492 ABBA01042443;ABBA01042444;ABBA01042445;ABBA01042446;ABBA01042447;ABBA01042448;AC004383;AK313435;AMYH02040528;AY780550;BC000578;BT019350;CH471107;CR407645;KC877970;L29382;L29383;M12452;M24772;M26434;M31642;NG_012329;NM_000194;S60300;S79313 AAA36012;AAA52690;AAA52691;AAB21289;AAB59391;AAB59392;AAC60591;AAH00578;AAV31777;AAV38157;ABM86033;ABM86035;ABW03456;ABW03767;BAG36226;CAG28573;EAX11760;EAX11761;NP_000185;P00492 Hs.412707 1654666;1694084;1694284;1701884;1702476;1741533;1741841;1743769;1768558;1787966;1787968;1792106;1792650;1792652;1793452;1794446;1794448;1794664;1794666;1795162;1796004;2113534;5022853;5119575 AL035130;DXS10107A8;G42837;G67193;G67213;GDB:177372;GDB:181411;GDB:185506;GDB:192504;GDB:371809;HPRT;HPRT1_1621;HPRTB_-_Allele_11.2;PMC137113P1;PMC156144P2;PMC156144P3;PMC22513P1;PMC313988P1;PMC313988P2;PMC344179P1;PMC344179P2;PMC99939P1;STS-N33128;STS-V00530 HGPRT;HPRT HGPRTase;OTTHUMP00000024061;hypoxanthine guanine phosphoribosyl transferase;hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome);hypoxanthine-guanine phosphoribosyltransferase APPROVED protein-coding ENSG00000165704 HGNC:5157 02388 300322;300323;308000 REVIEWED 1605436 HPS1 Hermansky-Pudlak syndrome 1 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008] 10 10 10 q23.1-q23.3 93912577 93943330 - 100175955 100206720 - 98416198 98446963 - 1625056;6480464;7240710;8554872;8699517 8896559 10625677;10798370;10971344;11836498;12125811;12442288;12477932;12663659;12756248;12847290;12923531;16020891;16385451;16417222;16431308;17207965;17365864;17975119;18463683;19023099;19320733;19665357;19865097;20048159;20301464;20514622;20662851;21163940;21833017;21890473;22623531;23251661;7573033;8541858;9182823;9497254;9579545 3257 H0Y4K4;Q5TAA8;Q658M9;Q92902 ABBA01021777;ABBA01021778;AF450133;AK295821;AL139243;AL702912;AL833734;AMYH02023623;BC000175;BC002514;BC127087;BF447504;BI518436;BI966698;BQ100915;CH471066;NG_009646;NM_000195;NM_182639;U65676;U79136;U96721;XM_005269755;XM_005269756;XM_005269757;XM_005269758;XM_005269759;XM_005269760;XM_005269761;XM_006717818 AAB17869;AAB70662;AAC52074;AAH00175;AAI66631;AAL50684;ADQ32329;BAG58638;CAH56230;EAW49877;EAW49878;EAW49879;EAW49880;EAW49881;EAW49882;EAW49883;NP_000186;NP_872577;Q92902;XP_005269812;XP_005269813;XP_005269814;XP_005269815;XP_005269816;XP_005269817;XP_005269818;XP_006717881 Hs.404568 1678809;1681444;2150480 RH11263;RH47149;RH80341 HPS;MGC5277 Hermansky-Pudlak syndrome 1 protein;Hermansky-Pudlak syndrome type 1;OTTHUMP00000020244;OTTHUMP00000020245;OTTHUMP00000020246 APPROVED protein-coding ENSG00000107521 HGNC:5163 05403 203300;604982 REVIEWED 1323623 HPS5 Hermansky-Pudlak syndrome 5 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p14 18432440 18475937 - 18300217 18343751 - 18278670 18322204 - 6480464;8699517;7240710;8554872 10094488;10231032;12168954;12477932;12548288;14702039;15030569;15296495;15489334;17301833;17365864;20301464;21124955;21833017;21886157;21906983;21963094;23607980 11234 F5GWM5;F5H6Q8;G3V159;Q9UPZ3 AA886415;AB023234;ABBA01061058;AC084117;AC107948;AF534400;AF534401;AF534402;AJ131721;AK024320;AK291663;AK292436;AMYH02024389;AMYH02024390;BC033640;CH471064;NG_008877;NM_007216;NM_181507;NM_181508;XM_005252761;XM_005252762;XM_005252763;XM_005252764 AAH33640;AAO25962;AAO25963;AAO25964;BAA76861;BAF84352;BAF85125;BAG51290;CAB38232;EAW68402;EAW68403;EAW68404;EAW68405;EAW68406;EAW68407;NP_009147;NP_852608;NP_852609;Q9UPZ3;XP_005252818;XP_005252819;XP_005252820;XP_005252821 Hs.437599 1779582;2113972;2146562;2178406;2181319;2219812 AB062963;D11S4020;HPS5__6585;SHGC-153557;SHGC-30910;STS-W46391 AIBP63;KIAA1017 Hermansky-Pudlak syndrome 5 protein;OTTHUMP00000233766;OTTHUMP00000233767;OTTHUMP00000236630;alpha integrin binding protein 63;alpha-integrin-binding protein 63;ruby-eye protein 2 homolog APPROVED protein-coding ENSG00000110756 HGNC:17022 07395 607521;614074 REVIEWED 1317629 HPS4 Hermansky-Pudlak syndrome 4 This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 22 22 22 cen-q12.3 10651342 10683694 - 26846848 26879829 - 26444228 26483863 - 1599546;1580863;6480464;8699517;7240710;8554872 12664304 10591208;11258795;11836498;12477932;12529303;12663659;12756248;12847290;14702039;15108212;15461802;15489334;15941405;16420244;16431308;17365864;18463683;19684574;20048159;20301464;20936779;21833017;23563589;8889548 89781 A8K2E6;E5RG08;F1LLU8;F8VYA9;F8WC53;Q6P1K3;Q9NQG7 AB051454;ABBA01055200;AK054717;AK057648;AK095406;AK097529;AK097886;AK123691;AK290211;AL365512;AL713795;AMYH02038167;AY043416;BC028625;BC035614;BC050285;BC065030;BM975247;BQ185676;CH471095;CR456392;NG_009763;NM_022081;NM_152841;NR_073135;NR_073136;XM_006724353;XM_006724354;XM_006724355;XM_006724356;XM_006724357;XM_006724358;XM_006724359;XM_006724360;XM_006724361;XM_006724362;XM_006724363;Z99714 AAH65030;AAK95330;BAB33337;BAB71540;BAF82900;BAG53049;CAB97208;CAD28549;CAG30278;CAI17880;CAK54398;CAK54697;CAQ09361;EAW59717;EAW59718;EAW59719;EAW59720;NP_071364;NP_690054;Q9NQG7;XP_006724416;XP_006724417;XP_006724418;XP_006724419;XP_006724420;XP_006724421;XP_006724422;XP_006724423;XP_006724424;XP_006724425;XP_006724426 Hs.474436 1653086;1653088;1674290;1674978;1681606;1850084;2109397;2140224;2177427;5022578 A005L38;D1S1423;D22S300;D22S560;G20318;HPS4__6584;NIB1482;RH11272;WI-11744;WI-14276 KIAA1667;LE;bK1048E9.4;bK1048E9.5 Hermansky-Pudlak syndrome 4 protein;OTTHUMP00000198859;OTTHUMP00000198860;OTTHUMP00000199897;OTTHUMP00000226125;light-ear protein homolog APPROVED protein-coding ENSG00000100099 HGNC:15844 05983 606682;614073 REVIEWED 736250 HPSE heparanase Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 4 4 4 q21.3 81506894 81546444 - 84213614 84256306 - 83292461 83335153 - 6480464;6484113;8554872 10395325;10395326;10405343;10446189;10764835;10940554;11027606;11123890;11351242;11406531;11547900;11759110;11779847;11798780;11973358;12027584;12029075;12065771;12097647;12213822;12219030;12441129;12477932;12509917;12679316;12713442;12746471;12773484;12824922;12837765;12904690;12927802;14522979;14558943;14573609;14633698;14676122;14702039;14769819;14967027;14989983;15034597;15040016;15044433;15100255;15109255;15126626;15144715;15264223;15292202;15334672;15368349;15471949;15475937;15489334;15610235;15625607;15645118;15659389;15682491;15709168;15728796;15737842;15760902;15837740;15848168;15983219;16007175;16093249;16097072;16112651;16217746;16263699;16288472;16303743;16391819;16429446;16452201;16514606;16709798;16759020;16790442;16826429;16855356;16867222;16879396;16890383;16982797;17051139;17095861;17141400;17208203;17217623;17261577;17284253;17339423;17419711;17437011;17467664;17481627;17519955;17524042;17611567;17634531;17715045;17989358;18058084;18064313;18167611;18212251;18217145;18246800;18288398;18305555;18329709;18357711;18390199;18450756;18487013;18512775;18545691;18557927;18609704;18618498;18646256;18647407;18662687;18704599;18773863;18798279;18809970;18812315;19096032;19157148;19180921;19305494;19401035;19406828;19437318;19452723;19715595;19749739;19802384;19835469;19916174;19955948;19956890;20007507;20075159;20097882;20164500;20193112;20309870;20339231;20388348;20403028;20434010;20578081;20619346;20634491;20653782;20660327;20798248;21029368;21076620;21131364;21153652;21257720;21364956;21385059;21415391;21424539;21461610;21464728;21483695;21490396;21505182;21600934;21671176;21706269;21757697;21780097;21965756;22001963;22005029;22009724;22020734;22102278;22133010;22194600;22227299;22260074;22276173;22331282;22363633;22488243;22575501;22682139;22692572;22719918;22952874;22956610;23028487;23048032;23162016;23241438;23251556;23288725;23313782;23370684;23415719;23430739;23467544;23499526;23499527;23499528;23499529;23499530;23504321;23504323;23511033;23649655;23704979;23771368;23794232;23907942;23982701;23984412;24169805;24189015;24286246;24291708;24319286;24740543;24747732;24753252;24887057;24922641;24937189;8125298;9668050 10855 D6RAQ1;D6RHG4;Q9Y251 ABBA01063463;ABBA01063464;AC114781;AF084467;AF144325;AF152376;AF155510;AF165154;AK075400;AK090910;AK222986;AM419200;AMYH02009617;AW293069;AY948074;BC029464;BC051321;CH471057;CQ840768;CQ840860;CQ971645;FJ517659;FJ517660;GQ337901;GQ337902;HM187643;NG_028037;NM_001098540;NM_001166498;NM_001199830;NM_006665 AAD41342;AAD45379;AAD45669;AAD54516;AAD54941;AAH51321;AAX47106;ACT98237;ACT98238;ADK11282;BAD96706;BAG52128;CAH05691;CAH05695;CAI40110;CAL91960;EAX05932;EAX05933;NP_001092010;NP_001159970;NP_001186759;NP_006656;Q9Y251 Hs.44227 1338293;1679153;1688498;1774003;2117900;2166041;2186271;5022578 D1S1423;D4S2824;D4S3088;D4S395;G16722;RH94313;SHGC-60112;SHGC4-751 HPA;HPA1;HPR1;HPSE1;HSE1 OTTHUMP00000160979;OTTHUMP00000160980;OTTHUMP00000219799;OTTHUMP00000219801;OTTHUMP00000219802;endo-glucoronidase;heparanase exon 9&10 deletion;heparanase exon10-deletion;heparanase-1 APPROVED protein-coding ENSG00000173083 HGNC:5164 05286 604724 REVIEWED 1347712 HPS6 Hermansky-Pudlak syndrome 6 This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008] 10 10 10 q24.32 97566095 97568741 + 103825124 103827795 + 102065367 102068038 + 632833;6480464;8699517;7240710;8554872 12548288 12477932;14702039;15030569;15489334;16169070;16385451;19843503;19946888;20301464;21139048;21890473;21900206;21906983;21963094;21987572;21988832;22203954;22505724 79803 Q86YV9 ABBA01063173;AF536238;AK026154;AL500527;AMYH02023686;BC009258;BC011594;BC014993;BC064917;BC080564;BI761726;CH471066;NG_012029;NM_024747 AAH11594;AAH14993;AAO25965;BAB15378;EAW49725;EAW49726;NP_079023;Q86YV9 Hs.125133 1664509;1776369;2115626;2183684 A002B16;A008M26;D10S1622;SGC31936 FLJ22501;MGC20522;RP11-302K17.1 Hermansky-Pudlak syndrome 6 protein;Hermansky-Pudlak syndrome-6 protein (HPS6);OTTHUMP00000020357;ruby-eye protein homolog APPROVED protein-coding ENSG00000166189 HGNC:18817 08471 607522;614075 REVIEWED 1348163 HPT hypoparathyroidism ASSOCIATED WITH Hypoparathyroidism, X-Linked (inferred) 7240710;6480464 3258 1340800;7186795 DXS984 HGNC:5165 307700 1350321 HPV18I1 human papilloma virus (type 18) integration site 1 ASSOCIATED WITH HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1 (inferred) 7240710 3028716 3260 HGNC:5166 167959 1347895 HPV18I2 human papillomavirus (type 18) integration site 2 ASSOCIATED WITH HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2 (inferred) 7240710 3033295 3261 HGNC:5167 167960 1347100 HPV6AI1 human papillomavirus (type 6a) integration site 1 q21.1 8118820 3259 X77607 miscrna HGNC:5168 604461 1354452 HPVC1 human papillomavirus (type 18) E5 central sequence-like 1 7 7 7 p11.2 54329406 54330603 - 54268917 54270114 - 54201224 54202421 - 6480464 7581372 3262 ABBA01011839;AC092848;AMYH02015723;CH236957;NR_004422;X85042 Hs.742598 1770343 PE5L-LSB HPV18E5L;PE5L ncrna HGNC:5169 600762 VALIDATED 737150 HPX hemopexin This gene encodes a plasma glycoprotein that binds heme with high affinity. The encoded protein is an acute phase protein that transports heme from the plasma to the liver and may be involved in protecting cells from oxidative stress. [provided by RefSeq, Apr 2009] 11 11 11 p15.5-p15.4 6571339 6581313 - 6452268 6462254 - 6431038 6441024 - 1580863;6480464 10443938;10737728;10981817;11752456;12042069;12477932;12675843;14718574;14760718;15084671;15174051;15558018;15697212;15697213;16014037;16079987;16199891;16335952;16502470;16740002;17185359;17229156;17636883;17968708;18044975;19056867;19433579;19863188;19913121;19966041;20149159;20610401;20628086;21193411;21404362;21988832;22579751;22772444;22993068;23254305;23350672;23620477;24613679;2735186;2833500;2842511;2989777;3036819;3220477;3372522;3455011;3661561;3855550;4105917;620056;6371807;6510521;8175675;8463269;8474687;8612795;8647924;8855948 3263 P02790;Q9BS19 ABBA01028668;ABBA01028669;AC084337;AK303758;AK313648;AMYH02024269;AV655383;BC005395;CH471064;CS185535;J03048;M36796;M36798;M36799;M36800;M36801;M36802;M36803;NM_000613;X02537;XM_005252883 AAA52704;AAA58678;AAH05395;ADZ15667;BAG36404;BAH14040;CAA26382;CAJ42716;EAW68718;EAW68719;EAW68720;EAW68721;NP_000604;P02790;XP_005252940 Hs.426485 1742519;2125005;2125007;2144809;2182956 D11S4353;D11S4588;GDB:197845;HPX;RH11711 FLJ56652;HX OTTHUMP00000164583;beta-1B-glycoprotein APPROVED protein-coding ENSG00000110169 HGNC:5171 00793 142290 REVIEWED 1350210 HPYR1 Helicobacter pylori responsive 1 (non-protein coding) 8 8 8 q24.22 129747549 129748530 - 133572745 133573726 - 132560498 132561479 - 11598072 93668 ABBA01014207;AC018540;AF200341;AMYH02018808;NR_026684 Hs.545218 2146521 G32165 HPRG1;LINC00027;NCRNA00027 ncrna ENSG00000253521 HGNC:16071 PREDICTED 1317455 HPSE2 heparanase 2 (inactive) This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 10 10 10 q23-q24 93953460 94732450 - 100216834 100995632 - 98457077 99235875 - 1580863;7240710;8554872;8699517;6480464 10360399;10458906;11027606;12477932;14702039;15164054;15475937;15709168;15837740;16385451;16879396;17989358;18058084;18528290;18617780;19955924;20031192;20182872;20379614;20560209;20560210;20576607;21308479;21332471;21450525;21980299;23251661;23370684;23793025;23829686;23967498;24139593;9199567 60495 Q2M1H9;Q8WWQ2 ABBA01021773;ABBA01021774;ABBA01021775;ABBA01021776;ABBA01063253;ABBA01063254;ABBA01063255;ABBA01063256;ABBA01063257;ABBA01063258;ABBA01063259;ABBA01063260;ABBA01063261;ABBA01063262;AF282885;AF282886;AF282887;AJ299719;AJ299720;AK021746;AK094037;AK126010;AK314759;AL139243;AL356220;AL356268;AL360075;AL365210;AL391260;AL445251;AL590036;AMYH02023623;AMYH02023624;AMYH02023625;AMYH02023626;AMYH02023627;AMYH02023628;AMYH02023629;AMYH02023630;AMYH02023631;AMYH02023632;AMYH02023633;AMYH02023634;BC112356;CH471066;NG_023416;NM_001166244;NM_001166245;NM_001166246;NM_021828;XM_006717937 AAG23421;AAG23422;AAG23423;AAI12357;BAG37297;BAG52801;CAC82491;CAC82492;EAW49872;EAW49873;EAW49874;NP_001159716;NP_001159717;NP_001159718;NP_068600;Q8WWQ2;XP_006718000 Hs.500750;Hs.676960;Hs.689544 1336483;1339146;1706694;1709034;1710482;1755547;1760571;1763583;1763649;1781964;1921302;2112528;2112530;2168885;5015861;5022425;5022651;7185938 D10S16;D10S1726;D10S198;D10S2435;D10S2436;D11S2921;D22S296;REN31474;SHGC-141878;SHGC-142401;SHGC-144040;SHGC-14454;SHGC-147281;SHGC-147334;SHGC-79588;SHGC-82849;SHGC-86258 FLJ11684;FLJ44022;HPA2;HPR2;MGC133234;UFS;UFS1 OTTHUMP00000020250;OTTHUMP00000020251;OTTHUMP00000020252;Ochoa syndrome;heparanase 3;heparanase-2;heparanase-like protein;inactive heparanase-2 APPROVED protein-coding HGNC:18374 13669 236730;613469 REVIEWED 1344984 HR hair growth associated This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] 8 8 8 p21.2 20934236 20950880 - 21971932 21988566 - 22114419 22131053 - 1599575;1599576;1580863;6480464;7240710;8554872;8699517 9736769;9856480 10051399;10205263;10469319;11410842;11641275;11748221;11966690;12271294;12403844;12406339;12477932;12847098;14702039;15489334;15900300;16269453;16344560;17372750;17609203;17869066;17958788;18164595;18709303;19122663;19540091;19747330;19819974;19897589;20055871;20087431;20163456;20211142;20512927;20659777;20814945;21272494;21919222;21982945;22155146;22355551;23251661;23293922;24190897;24261346;24334705;8357006;8889548;9445480;9463324;9758627 55806 E5RK80;O43593 ABBA01005504;ABBA01005505;AC105206;AF039196;AJ277165;AK098053;AK308839;AL833253;AMYH02017589;AW291630;BC008946;BC067128;BM982749;BX109092;CH471080;DA114279;DA326731;NG_008166;NM_005144;NM_018411;XM_005273569;XM_006716367 AAC32258;AAH67128;CAB86602;EAW63716;EAW63717;EAW63718;NP_005135;NP_060881;O43593;XP_005273626;XP_006716430 Hs.272367 1334517;1671410;1679802;1739947;2142214 D17S1776;D5S1392;HSC06D102;RH12774;RH92812 AU;FLJ98880;HSA277165;HYPT4;MUHH;MUHH1 ALUNC;OTTHUMP00000122609;OTTHUMP00000224807;hairless homolog;lysine-specific demethylase hairless;protein hairless APPROVED protein-coding ENSG00000168453 HGNC:5172 03808 146550;203655;209500;602302 REVIEWED 1319850 HRASLS HRAS-like suppressor ENCODES a protein that exhibits phospholipase activity (inferred); transferase activity (inferred); INVOLVED IN ether lipid metabolic process (inferred); lipid catabolic process (inferred); peroxisome organization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); nuclear envelope lumen (inferred); peroxisome (inferred); INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; cyclosporin A 3 3 3 q29 191374190 191403914 + 192948030 193025102 + 193230241 193307315 + 6480464;8554872 10542256;11474175;12477932;20837014;21832049;21880860;9771974 57110 H7C3Y1;Q86WS9;Q9HDD0;X6R3D1 AB030816;AB510981;ABBA01058291;AC092966;AC105057;AMYH02008437;AY251533;BC048095;BX098792;CH471052;NM_020386;XM_005247658 AAH48095;AAP20056;BAB08110;BAI63210;EAW78078;EAW78079;NP_065119;Q9HDD0;XP_005247715 Hs.36761 1753195;5022763 HRASLS;SHGC-110035 A-C1;H-REV107;HRASLS1;HRSL1;HSD28 H-REV107 protein-related protein;HRAS-like suppressor 1;OTTHUMP00000209192;phospholipase A;phospholipid-metabolizing enzyme A-C1 protein-coding ENSG00000127252 HGNC:14922 07577 606487 VALIDATED 1344464 HRASLS2 HRAS-like suppressor 2 ENCODES a protein that exhibits hydrolase activity (inferred); transferase activity, transferring acyl groups (inferred); INVOLVED IN lipid catabolic process (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; aflatoxin B1; hydrogen peroxide 11 11 11 q12.3 60644328 60654940 - 63320242 63330855 - 63552770 63563383 - 6480464 14702039;18163183;19615464;19913121;20628086;22605381 54979 Q9NWW9 AB453251;ABBA01003255;AK000563;AMYH02024911;AMYH02024912;AP001591;CH471076;NM_017878 AAI52863;BAA91256;BAH22445;EAW74157;NP_060348;Q9NWW9 Hs.272805 FLJ20556;PLA1/2-2 OTTHUMP00000237068 protein-coding ENSG00000133328 HGNC:17824 13670 613866 PROVISIONAL 730881 HRAS Harvey rat sarcoma viral oncogene homolog This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 594708 598010 - 532242 535561 - 532242 535561 - 1358733;1580863;2314833;2314834;2314836;2314838;2314840;2314841;2314832;6480464;5686410;6484113;6907045;7240710;8554872;8699517 14984964;18514235;19283661;19303097;19652463;19762144;19855393;22177953;8098541 10212255;10334923;10369681;10402467;10485711;10490827;10504264;10514505;10545207;10574788;10677502;10712923;10748182;10783161;10842192;10848576;10848592;10862698;10882715;10891505;10922060;10989457;10998413;11022048;11097227;11136978;11156605;11205744;11257115;11303621;11335720;11352655;11389730;11487538;11520933;11525649;11560935;11585923;11695562;11695563;11709168;11709720;11739523;11744690;11786539;11788888;11857081;11880369;11904419;11920220;11934900;11948427;11958689;11977185;11980706;12034322;12115522;12134164;12135390;12379659;12477932;12540507;12569357;12581858;12589428;12620389;12628188;12668284;12695509;12717016;12727991;12732644;12740440;12748287;12750467;12838617;12867418;12874025;12878090;12915131;12970366;14500341;14576295;1459726;14622581;14654780;14662018;14688016;14693748;14724584;14724641;14729607;14737103;14767509;15031288;15031297;15098441;15187129;15202051;15211515;15320975;15451670;15469846;15489334;1549493;15496409;15528212;15597105;15638373;15664191;15677464;15684418;15688026;15697248;15702478;15705808;15721486;15757891;15761501;15784896;15816642;15824104;15831492;15854902;15855817;15940260;15950068;15963850;15980150;16000296;16005186;16007212;16081426;16170018;16170316;16174078;16187291;16264231;16268414;16268778;16286246;16301319;16316996;16329078;16356174;16384911;16434492;16436381;16436505;16488657;16518842;16518851;16531227;16532025;16552541;16569214;16573741;16598312;16598313;16644864;16645632;16717102;16738062;16760302;16761621;16774944;16803888;16806262;16810318;16831126;16849642;16857742;16881968;16890591;16923573;16945398;16969868;17018607;17056636;17094109;17096025;17164262;17196792;17210246;17230191;17237388;17255356;17260967;17264303;17324647;17374253;17380122;17388810;17412879;17428306;17488404;17518771;17533377;17540175;17601930;17635919;17638918;17699159;17712732;17767136;17912430;17940286;17943694;17974970;17979197;18021740;18039947;18042262;18048363;18077377;18094044;18176964;18247425;18284919;18296105;18310288;18325324;18330889;18355852;18383861;18425390;18454158;18465119;18485440;18555006;18577512;18621636;18641685;18655729;18660489;18676755;18677112;18683737;18724893;18757346;18769120;18771652;18783589;18790720;18922970;1899707;19013323;19021766;19029954;19035362;19048123;19062714;19064572;19075190;19089619;19101897;19107228;19107910;19133693;19139860;19140325;19146951;19160018;19206176;19218240;19240121;1924354;19254697;19276157;19289583;19295453;19326463;19347028;19351817;19369630;19406145;19420344;19438459;19443408;19487299;19494114;19543317;19596959;19628422;19638574;19638615;19681119;1970154;19723872;19752775;19787260;19787272;19802010;19802012;19815050;19849697;19855428;19888426;19890398;19936293;19966300;20012784;20038817;20042089;20046837;20108024;20147967;20150643;20173673;20184776;20188103;20301680;20354187;20375073;20392691;20406971;20413844;20425820;20437058;20479006;20489206;20491778;20503341;20515613;20526288;20569235;20579853;20581865;20581871;20583607;20584693;20655225;20676142;20720444;20729618;20824703;20828432;20848283;20860430;20865400;20871217;20936779;20937837;21041410;21072204;21080251;21115922;21120662;21122380;21167132;21211511;2121270;21221763;2122974;21264513;21281602;21303778;21330833;21336946;21388064;21403836;21411223;21438134;21473856;21480388;21503581;21514184;21524920;21607592;21665306;21725518;21768877;21771097;21782855;21808062;21825040;21826673;21834037;21841825;21850009;21900206;21930707;21931711;21943101;21945529;2196171;21988832;22045063;22080568;22096025;22098123;2217184;22172840;22179043;22188534;22199277;22207524;22209037;22214007;22223432;22261753;22266936;22294102;22298595;22315970;22317973;22324744;22325215;22367918;22417847;22427690;22431868;22433386;22488832;22490849;22494971;22495892;22499344;22573884;22579650;22584058;22589270;22605333;22618666;22683711;22707223;22712795;22796164;22798674;22800643;22826122;22865907;22894707;22909976;22920169;22926243;22939629;22982396;23009572;23028055;23046202;23063714;23096709;23096712;23129805;23150177;23168708;23240926;23248241;23264394;23317213;23324341;23335589;23337891;23396970;23429430;23459937;23477374;23487764;23496764;23498955;23512829;23548900;23561972;23583409;23599145;23617461;23640968;23648844;23722551;23726918;23868059;23884447;23918800;23934677;23953123;24006476;24096320;24129065;24222113;24224811;24247240;24250222;24259709;24341335;24371145;24390138;24454781;2448879;24516166;24684458;24722188;2476675;24884338;24912918;2654810;2661017;2833817;2991860;2998510;2999610;3011420;3034404;3088563;3102434;3109943;3131765;3276402;3295562;3476115;3670300;3856237;3932274;6086315;6087347;6098458;6290897;6298635;6308640;6312329;6587382;6616621;6844927;6866079;7177195;7523381;7628625;7689150;7706312;7730360;7744247;7809086;7862125;7916576;7969158;7972015;8035810;8137421;8142349;8280380;8307946;8332187;8332195;8493579;8530446;8554611;8607982;8621645;8626715;8628317;8637706;8663024;8665852;8753867;8911690;8939933;9020890;9038168;9054499;9069260;9069267;9099670;9113989;9144171;9150145;9154803;9219684;9235916;9261098;9269777;9297626;9344703;9488663;9516482;9523700;9525745;9582122;9674433;9690470;9699522;9765203;9880516 3265 P01112;Q96T27;X5D945 AB451336;AB451485;ABBA01015190;AC137894;AF375987;AF493916;AJ437024;AMYH02024142;AMYH02024143;BC006499;BC095471;BM801632;BQ574535;BQ674260;BT019421;CH471158;CR536579;CR542271;CS566142;DN990077;EF015887;HD032931;J00277;JC006853;K00654;KJ534867;KJ534868;M17232;M19990;M25876;M30539;NG_007666;NM_001130442;NM_005343;NM_176795;X01227;X16438;XM_006718217;XM_006725136;XR_242795;XR_430702 AAA35683;AAA35685;AAA35687;AAA36557;AAA52693;AAB02605;AAH06499;AAH95471;AAK56963;AAM12630;AAV38228;ABI97389;AHW56507;AHW56508;BAG70150;BAG70299;CAA25624;CAA34461;CAD24594;CAG38816;CAG47067;CAN37622;CBV35641;CDL93477;EAX02337;EAX02338;EAX02339;EAX02340;EAX02341;NP_001123914;NP_005334;NP_789765;P01112;XP_006718280;XP_006725199 Hs.37003 1686214;1693542;1741013;1741057;1741059;1741961;1757861;1757863;1792516;1792518;1794638;2177568;2177958 G29883;GDB:177373;GDB:177542;GDB:177543;GDB:187026;HRAS;PMC152554P1;PMC152554P2;PMC33481P1;RH75826;SHGC-146715;SHGC-146716;SHGC-58456 C-BAS/HAS;C-H-RAS;C-HA-RAS1;CTLO;H-RASIDX;H-Ras-1;HAMSV;HRAS1;K-RAS;N-RAS;RASH1;ha-Ras;p21ras GTP- and GDP-binding peptide B;GTPase HRas;Ha-Ras1 proto-oncoprotein;Harvey rat sarcoma viral oncoprotein;OTTHUMP00000162769;OTTHUMP00000166053;OTTHUMP00000166055;OTTHUMP00000166056;Ras family small GTP binding protein H-Ras;c-has/bas p21 protein;c-ras-Ki-2 activated oncogene;p19 H-RasIDX protein;transformation gene: oncogene HAMSV;transforming protein p21;v-Ha-ras Harvey rat sarcoma viral oncogene homolog APPROVED protein-coding ENSG00000174775 HGNC:5173 01813 109800;162900;163200;188470;190020;218040 REVIEWED 2301113 HRCT1 histidine rich carboxyl terminus 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; calcitriol 9 9 9 p13.3 35839732 35840681 + 35906189 35907138 + 35906192 35907141 + 6480464 12975309 646962 Q6UXD1 ABBA01064979;AL135841;AMYH02019466;AMYH02019467;AY358408;NM_001039792 AAQ88774;NP_001034881;Q6UXD1 Hs.208081 LGLL338;PRO537;RP11-327L3.6;UNQ338 OTTHUMP00000205161;histidine-rich carboxyl terminus protein 1 protein-coding ENSG00000196196 HGNC:33872 VALIDATED 1346832 HRD hypoparathyroidism, growth and mental retardation, and dysmorphism ASSOCIATED WITH Hypoparathyroidism-retardation-dysmorphism syndrome (inferred); Kenny-Caffey syndrome, Type 1 (inferred) 7240710 9634513 3271 HGNC:5179 241410;244460 1606473 HRASLS5 HRAS-like suppressor family, member 5 ENCODES a protein that exhibits transferase activity, transferring acyl groups (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; Aroclor 1254 (ortholog); cisplatin (ortholog) 11 11 11 q13.2 60552972 60582768 - 63228876 63258680 - 63461404 63491208 - 6480464;8554872 12477932;14702039;17158102;17207965;19000777;21832049 117245 B4DY88;F5H4Q3;H0YGT7;H7BYL7;Q8NE88;Q96KN8 AB298804;ABBA01003254;AI208471;AJ416558;AK055392;AK302312;AMYH02024910;AP000484;AP001591;BC034222;CH471076;DB460110;NM_001146728;NM_001146729;NM_054108;XR_428910 AAH34222;ADQ32507;BAG63650;BAH08633;CAC94942;EAW74149;EAW74150;NP_001140200;NP_001140201;NP_473449;Q96KN8 Hs.410316 1721961;1857975;2133538 A005E24;G59866;WIAF-2220 HRLP5;HRSL5;RLP1;iNAT Ca(2+)-independent N-acyltransferase;H-rev107-like protein 5;HRAS-like suppressor 5;OTTHUMP00000236913;OTTHUMP00000236914;OTTHUMP00000236915;calcium-independent phosphatidylethanolamine N-acyltransferase;lecithin-retinol acyltransferase (LRAT)-like protein-1 protein-coding ENSG00000168004 HGNC:24978 13672 611474 VALIDATED 1348901 HRES1 HTLV-1 related endogenous sequence 1783388 3272 P13985 NM_001007238;X16660 1674109;1778464 RH45658;STS-X16660 HGNC:5180 143025 1343095 HRC histidine rich calcium binding protein This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008] 19 19 19 q13.3 46521679 46525908 - 49654455 49658686 - 49151198 49155429 - 1580863;6480464 10462052;11504710;11741309;12477932;12480542;12488461;12543931;15082771;15191886;15489334;17526652;18029348;18617481;2037293;24125847;2498310 3270 M0QY84;M0QZ43;P23327 ABBA01032938;AC008891;AK300706;AMYH02036314;BC069795;BC069802;BC094691;BC112355;CH471177;FJ000070;M60052;NM_002152;XR_243928;XR_430198 AAA88071;AAH69795;AAH69802;AAH94691;AAI12356;ACH88003;BAG62385;EAW52458;EAW52459;NP_002143;P23327 Hs.436885 1741679;1741681;2132361;5119805 GDB:181998;GDB:181999;GDB:182001;RH71439 MGC133236 sarcoplasmic reticulum histidine-rich calcium-binding protein APPROVED protein-coding ENSG00000130528 HGNC:5178 00818 142705 REVIEWED 735725 HRH2 histamine receptor H2 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H2 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and stimulates gastric acid secretion. It also regulates gastrointestinal motility and intestinal secretion and is thought to be involved in regulating cell growth and differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 5 5 5 q35.2 171124127 171152332 + 175084847 175136239 + 175657844 175709236 + 1580863;6480464 10371214;10837353;11466390;11603849;11641433;11728449;11898002;12036966;12429384;12477932;12680587;12757445;12824943;14523557;15086532;15167968;15191551;15820830;15848191;15928843;15953854;15961859;16203768;16888049;1714721;17347323;17627982;18240029;18258331;18617631;18691388;18802338;19026982;19156168;19193342;19913121;20012462;20237496;20602615;20628086;21212009;21683759;21705320;22169095;22615049;22720301;22860191;22975449;23280118;23465664;23677734;24236486;24530738;7511596;7575521;7755641;7794271;8817552;9311023;9374694;9725260 3274 P25021 AB023486;AB023487;AB041384;AB451483;ABBA01043989;AC010219;AMYH02012805;AY136744;BC054510;CF147823;CH471062;D49783;M64799;NM_001131055;NM_022304;X98133;XM_005265904;XM_005265905;XM_005265907;XM_006714864;XM_006714865;XR_245274 AAA58647;AAH54510;AAN01270;BAA08618;BAA84279;BAA94469;BAG70297;CAA66832;EAW61369;NP_001124527;NP_071640;P25021;XP_005265961;XP_005265962;XP_005265964;XP_006714927;XP_006714928 Hs.247885 1796010;1857447 HRH2_1005;RH71388 H2R;HH2R OTTHUMP00000161242;OTTHUMP00000161243;gastric receptor 1;gastric receptor I;histamine H2 receptor;histamine receptor h 2 APPROVED protein-coding ENSG00000113749 HGNC:5183 00816 142703 REVIEWED 736085 HRH1 histamine receptor H1 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene was thought to be intronless until recently. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 3 3 3 p25 11114216 11240363 + 11178779 11304939 + 11137093 11263253 + 1580863;6480464;8554872 10569698;10818238;10973974;11603849;11898002;11994709;12218662;12429384;12477932;12680587;12755404;12757445;15328002;15342556;15542600;15820830;15928828;15928843;15953854;16027157;16344560;16408006;16484687;16491014;16547808;16705383;16754659;16760260;16888049;17122961;17243823;17517105;17547532;17627982;17637176;18029348;18240029;18258331;18345497;18366640;18446005;18498711;18511496;18548114;18577758;18682391;18814859;19156168;19193342;19271144;19443731;19913013;19913121;20237496;20602615;20628086;20800603;21255012;21433074;21686228;21697825;21730054;21937795;22169095;22860191;23000965;23132961;23225320;23382691;23414213;23609395;23677734;23900020;23962049;24236486;2670975;2886904;2891264;7925364;8003029;8045566;8280179;8590995;8666296;9311023;9794809 3269 C9J2E6;P35367 AB041380;ABBA01025226;ABBA01025227;ABBA01025228;ABBA01025229;AC083855;AF026261;AF420434;AJ000742;AK289412;AK292157;AK312879;AMYH02006265;AMYH02006266;AMYH02006267;AMYH02006268;AY136743;BC060802;BM905371;BP366267;CH471055;D14436;D28481;DA372691;DB073635;DC300229;NM_000861;NM_001098211;NM_001098212;NM_001098213;U37761;X76786;Z34897 AAB95156;AAD14833;AAH60802;AAN01269;BAA03319;BAA05840;BAA94465;BAF82101;BAF84846;BAG35729;CAA04289;CAA54182;CAA84380;EAW64092;NP_000852;NP_001091681;NP_001091682;NP_001091683;P35367 Hs.1570 1647565;1678993;1739567;1758325;1758347;1760151;1796008;2123862;2136222;2136298;2181490;5016675;5022450 D10S275;D3S3138;D3S3145;D3S3461;D3S4194;HRH1_1003;RH36646;RH79740;SHGC-132075;SHGC-148056;SHGC-148108;SHGC-76733;WI-15608 H1-R;H1R;HH1R;hisH1 OTTHUMP00000160133;OTTHUMP00000207582;OTTHUMP00000207583;OTTHUMP00000209395;histamine H(1) receptor;histamine H1 receptor;histamine receptor h 1;histamine receptor, subclass H1 APPROVED protein-coding ENSG00000196639 HGNC:5182 02544 600167 REVIEWED 732356 HRH3 histamine receptor H3 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene encodes one of the histamine receptors (H3) which belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 57525154 57530460 - 60790017 60795323 - 62214961 62220267 - 1580863;1626428;1626432;1626433;1626431;1626405;1626416;1626418;1626421;1626426;1626408;1626409;1626425;6480464;8554872 11684344;15076218;15319804;15381834;15680274;16137576;16671478;17169356;17189541;17276409;17350523;9050021 10347254;10637648;11118334;11284713;11752397;11780052;11956964;12069903;12477932;12971961;15191551;15489334;15597144;15665857;16565470;17561422;17627982;18240029;18345506;18564330;18577758;18802338;18996102;19156168;19193342;19413572;19413576;19824886;19825989;20602615;20864503;21376262;21652606;21749919;22118942;22129936;22860191;22870296;22885137;23535732;23647606;23677734;23713487;24493592;9311023;9670104 11255 Q8WY01;Q9Y5N1 AB019000;ABBA01040102;AF140538;AF321910;AF321911;AF321912;AF321913;AF346903;AF346904;AF363791;AJ278250;AJ296652;AK074730;AL078633;AMYH02037417;BC096840;CH471077;NM_007232;XM_005260266;XM_005260267;XM_006723696 AAD38151;AAH96840;AAK50040;AAL71911;AAL71912;AAL71913;AAL71914;AAM43828;AAM43829;BAB17030;BAC11167;CAC39434;CAC51025;EAW75381;EAW75382;EAW75383;EAW75384;EAW75385;NP_009163;Q9Y5N1;XP_005260323;XP_005260324;XP_006723759 Hs.251399 GPCR97;H3R;HH3R G protein-coupled receptor 97;G-protein coupled receptor 97;OTTHUMP00000031459;histamine H3 receptor APPROVED protein-coding ENSG00000101180 HGNC:5184 604525 VALIDATED 736906 HRG histidine-rich glycoprotein This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Jul 2008] 3 3 3 q27 184820230 184832456 + 186383747 186396023 + 186665958 186678234 + 1599656;1580863;6480464;7240710;8554872;8699517 9414276 10050040;10421785;10514432;11134179;12391183;12477932;12764609;1459097;14718574;14744774;15138272;15220341;15269838;15489334;1561009;16107330;16335952;16344560;16436387;16489009;1678514;17229145;18797515;19056867;19285951;19674792;19712047;19903770;19913121;20071662;20237496;20303064;20573803;20628086;21215706;21304106;21665544;21757718;21988832;22703881;22895448;2347592;23576524;23672470;2524479;2566603;3011081;3819648;3958188;4116337;6414553;6438154;6740558;678554;8188234;8348977;8478589;8478593;9184145;9276466 3273 P04196;Q68DR3 AB005803;ABBA01058384;AC109780;AI800281;AK313381;AMYH02008348;BC069574;BC150591;CH471052;CR749302;DA637240;KF459592;M13149;NG_021485;NM_000412;XM_005247415;Z17218 AAA52694;AAH69574;AAI50592;BAA21613;BAG36179;CAA78925;CAH18157;EAW78183;EAW78184;NP_000403;P04196;XP_005247472 Hs.1498 1741441;1742777;2125110;2187178 D3S4002;GDB:181212;GDB:206583;SHGC-77619 DKFZp779H1622;HPRG;HRGP;THPH11 OTTHUMP00000210110;histidine-proline-rich glycoprotein APPROVED protein-coding ENSG00000113905 HGNC:5181 00812 142640;613116 REVIEWED 735405 HRH4 histamine receptor H4 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 18 18 18 q11.2 18855629 18874954 + 22040593 22059921 + 24460629 24479957 + 1580863;6480464 10973974;11118334;11179434;11179435;11179436;11181941;11394877;12477932;15191551;15265943;15489334;16203768;16547802;16547812;17507084;17627982;17681365;17806168;17806182;17978505;18239617;18240029;18258331;18345487;18345495;18345506;18452403;18572901;18577758;18582456;18635748;19046950;19053770;19156168;19166345;19271148;19281909;19662098;19958313;20192225;20199554;20237496;20618322;20722760;20800603;21104170;21171298;21609450;21614010;21741967;21881994;22118942;22153663;22201741;22363581;22653292;22885137;22973061;23006423;23425150;23481304;23517361;23677734;23932072;24236486;24372819;24432340;24447834;24493592;24530738 59340 B2KJ49;Q9H3N8 AB044934;AB045370;ABBA01022610;AC007922;AF307973;AF312230;AF325356;AF329449;AJ298292;AMYH02034434;AMYH02034435;AY008280;AY136745;BC069136;BC112348;CH471088;DQ835186;DQ835187;EF444982;NM_001143828;NM_001160166;NM_021624 AAG32052;AAH69136;AAI12349;AAK12081;AAK43542;AAL01684;AAL09297;AAN01271;ABI54174;ABI54175;ACA05997;BAB13698;BAB20091;CAC83493;EAX01189;NP_001137300;NP_001153638;NP_067637;Q9H3N8 Hs.287388 5016596 GDB:631802 AXOR35;BG26;GPCR105;GPRv53;H4;H4R;HH4R;MGC133027;SP9144;pfi-013 G-protein coupled receptor 105;OTTHUMP00000162782;histamine H4 receptor APPROVED protein-coding ENSG00000134489 HGNC:17383 06004 606792 REVIEWED 1349514 HRMT1L5 HMT1 hnRNP methyltransferase-like 5 (S. cerevisiae) 415048 HGNC:31728 731025 HRK harakiri, BCL2 interacting protein This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 12 12 12 q24.22 116928567 116948765 - 117298225 117319232 - 116860420 116881427 - 1580863;70327;2290488;2314029;6480464 10075695;17428807;19641503 11076863;11331593;11483855;11796190;12217801;12477932;12606589;14596824;14695142;15031724;15694340;15721256;16697956;18008329;18037991;19322201;19641496;20379614;20855536;21209886;21666788;21731739;22005931;22504417;22504421;22773666;22964433;23090478;23192964;23580416;9130713;9228060 8739 K7EJY7;O00198 ABBA01020022;AC083806;AMYH02027302;BE674890;CH471054;D83699;NM_003806;NR_073189;U76376 AAC34931;AAI11924;EAW98093;NP_003797;O00198 Hs.87247 1764705;1787154;2220650 SHGC-148297;SHGC-156031;UniSTS:487026 DP5 BCL2-interacting protein;BH3-interacting domain-containing protein 3;HARAKIRI;OTTHUMP00000240831;activator of apoptosis Hrk;activator of apoptosis harakiri;death protein 5;harakiri, BCL2 interacting protein (contains only BH3 domain);neuronal death protein DP5 APPROVED protein-coding HGNC:5185 04581 603447 REVIEWED 1351385 HRPT1 hyperparathyroidism 1 7240710 3278 HGNC:5190 1603472 HRNR hornerin ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN establishment of skin barrier; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; potassium dichromate; dioxygen (ortholog) 1 1 1 q21.3 125299240 125308530 - 152184552 152196672 - 152212044 152224301 - 6480464;8554872 15507446;16710414;17353931;17643375;19020553;19601998;21080425;21139048;21145461;21282207;21319273;21565611;22268729;22727333;23314748;23443559;23455922;23557745;24147044;25027693 388697 Q5W8V9;Q86YZ3 AB104446;AB180729;ABBA01049412;AL589986;AMYH02001891;AY396741;BR000036;NM_001009931;XM_006711315 AAR91619;BAC57496;BAD67177;FAA00004;NP_001009931;Q86YZ3;XP_006711378 Hs.490162 1853347 AL009877 FLG3;S100A16;S100a18 OTTHUMP00000014118;filaggrin family member 3;intermediate filament-associated protein protein-coding ENSG00000197915 HGNC:20846 17114 VALIDATED 6481058 HS1BP3-IT1 HS1BP3 intronic transcript 1 (non-protein coding) 2 2 p24.1 20790535 20792308 - 20590775 20592548 - 100874343 ABBA01018474;AC012065;AMYH02003371;BQ010717;BQ013798;NR_046836 Hs.591546 ncrna ENSG00000231948 HGNC:41474 VALIDATED 1602467 HS1BP3 HCLS1 binding protein 3 The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008] 2 2 2 p24.1 20679957 20713243 - 20817564 20850867 - 20617804 20651104 - 6480464;8554872 10590261;12477932;14702039;15699368;16116142;19524641;21139048;21699750;23383273;24816145;8889549 64342 B5MC96;F6TR53;F8WDN8;H7BZ19;H7BZZ1;H7C0Y9;Q53T59;Q9H7U7 ABBA01018473;AC012065;AK024311;AK123411;AK314383;AMYH02003372;AMYH02003373;AX883875;BC027947;BC038847;BC050636;BC057389;BG753647;BX354596;CH471053;N62141;NM_022460 AAH50636;AAX93235;BAB14878;BAG37009;CAE92147;EAX00812;EAX00813;EAX00814;EAX00815;EAX00816;EAX00817;NP_071905;Q53T59 Hs.531785 1699526;2122425;5113717 RH103358;RH93819;SHGC-34587 ETM2;FLJ14249;HS1-BP3 HCLS1-binding protein 3;HS1-binding protein 3;HSP1BP-3;OTTHUMP00000151187 APPROVED protein-coding ENSG00000118960 HGNC:24979 13357 609359 REVIEWED 1313348 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008] 1 1 1 p22.3 85623706 85821380 + 87380335 87575681 + 86914652 87109998 + 6480464;6907045 10677367;10731680;12477932;14702039;15317737;15489334;16710414;17227754;19946888;20379614;21048031;9455484 9653 K7EP71;Q7LGA3 AB007917;AB024568;ABBA01045608;ABBA01045609;ABBA01045610;AC093155;AF086247;AK023260;AL121989;AMYH02001416;AMYH02001417;AMYH02001418;AMYH02001419;BC025384;BC025990;BC108735;BF431947;CH471097;NM_001134492;NM_012262 AAH25384;AAH25990;AAI08736;ADZ15840;BAA32293;BAA89250;BAG51177;EAW73170;EAW73171;EAW73172;EAW73173;NP_001127964;NP_036394;Q7LGA3 Hs.743280 1657076;1660171;1692268;1692704;1697176;1772516;2110457;2132828;2151900;2181362;5022034 AL009717;AL034028;AL034101;Cda17d05;D1S3294;G27524;HS2ST1__6589;RH102077;RH77888;SHGC-75114;UBA2 2OST;FLJ11317;KIAA0448;MGC131986;dJ604K5.2 2-O-sulfotransferase;OTTHUMP00000011908;OTTHUMP00000011909 APPROVED protein-coding ENSG00000153936 HGNC:5193 09215 604844 REVIEWED 1343199 HRSP12 heat-responsive protein 12 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN metabolic process (inferred); nucleic acid phosphodiester bond hydrolysis (inferred); regulation of translational termination (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; aflatoxin B1 8 8 8 q22 95300431 95315280 - 99114567 99129418 - 98102339 98117190 - 1580863;6480464 10400702;10961346;12477932;14997576;15489334;16198412;18029348;18276110;19056867;20817725;20877624;21139048;21988832;22053931;22210626;22939629;23251661;24250222;8530410;8973653;9405234;9463573;9767104 10247 E5RIP8;H0YB34;H0YBX3;P52758 ABBA01037533;ABBA01037534;AMYH02018481;AP003439;AY026764;BC010280;BC012592;BC093059;BX348173;CH471060;CR456844;CR541652;CS185579;D62115;NM_005836;X95384 AAH10280;AAH12592;AAH93059;AAK01939;ABM83723;ABM87043;CAA64670;CAG33125;CAG46453;CAJ42760;EAW91774;EAW91775;NP_005827;P52758 Hs.18426 1663894;1670244 RH66205;STS-T86935 P14.5;PSP;UK114 14.5 kDa translational inhibitor protein;OTTHUMP00000227187;OTTHUMP00000227756;OTTHUMP00000227877;OTTHUMP00000228222;UK114 antigen homolog;perchloric acid-soluble protein;ribonuclease UK114;translational inhibitor p14.5;translational inhibitor protein p14.5 protein-coding ENSG00000132541 HGNC:16897 03924 602487 VALIDATED 1322170 HS3ST3A1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq, Jul 2008] 17 17 17 p12 13424332 13530566 - 13399006 13505244 - 13495689 13601927 - 1580863;6480464;6907045 10520990;10608887;12384783;12477932;12975309;15231747;15304505;15489334;17903302;20487506;22475533;7744762;9988767;9988768 9955 J3KSX5;Q9Y663 ABBA01055019;ABBA01055020;ABBA01055021;ABBA01055022;ABBA01055023;ABBA01055024;AC005375;AC005411;AF105376;AK292047;AMYH02033018;AMYH02033019;AMYH02033020;AMYH02033021;AY358838;BC044647;CH471108;NM_006042 AAD30208;AAH44647;AAQ89197;BAF84736;EAW89959;NP_006033;Q9Y663 Hs.462270 1339826;1774982;1783616;2120283;2128965;7186577 D17S1550;D17S936;G10331;RH46096;SHGC-171542 30ST3A1;3OST3A1 3-OST-3A;OTTHUMP00000064678;h3-OST-3A;heparan sulfate 3-O-sulfotransferase 3A1;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1;heparan sulfate glucosamine 3-O-sulfotransferase 3A1;heparin-glucosamine 3-O-sulfotransferase APPROVED protein-coding ENSG00000153976 HGNC:5196 04958 604057 REVIEWED 1346040 HS3ST2 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008] 16 16 16 p12 21605210 21707167 + 22825860 22927659 + 22814539 22916338 + 1580863;2317633;6480464;6907045;8554872 12527896 12477932;12975309;15489334;16336986;17482450;18757372;19850283;20379614;23383108;23648065;24265783;7744762;9988767;9988768 9956 H3BMR2;Q9Y278 AB209794;ABBA01017830;ABBA01017831;AC027102;AC130450;AC130466;AF105374;AF105375;AK313463;AMYH02031692;AMYH02031693;AY359095;BC093734;BC093736;CH471145;KC877589;NM_006043 AAD30206;AAD30207;AAH93734;AAH93736;AAQ89453;BAD93031;BAG36249;EAW55840;NP_006034;Q9Y278 Hs.115830;Hs.733610 1738811;2136868;2145982 D16S2876;SHGC-60514;SHGC-60734 30ST2;3OST2 3-OST-2;OTTHUMP00000120014;h3-OST-2;heparan sulfate 3-O-sulfotransferase 2;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 2;heparan sulfate glucosamine 3-O-sulfotransferase 2;heparin-glucosamine 3-O-sulfotransferase APPROVED protein-coding ENSG00000122254 HGNC:5195 04957 604056 REVIEWED 1354172 HS3ST3A2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A2 9988767 9954 HGNC:5197 1350015 HS3ST3B2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B2 9988767 9952 HGNC:5199 731446 HS3ST1 heparan sulfate (glucosamine) 3-O-sulfotransferase 1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008] 4 4 4 p16 11864401 11894954 - 11399988 11431255 - 11398364 11428913 - 1580863;6480464;6907045;8554872 11006120;12477932;14702039;15096036;15489334;17207965;18029348;21832049;21906983;22719876;24162737;24247246;24639526;7744762;8900198;9346953;9988767;9988768 9957 E9PDE3;O14792 AA825270;ABBA01032529;AC006230;AF019386;AI478981;AK096823;AMYH02008762;BC025735;BC057803;BM547276;CH471069;NM_005114;XM_005248221 AAB84388;AAH25735;AAH57803;ADQ33038;BAG53368;EAW92699;EAW92700;EAW92701;EAW92702;NP_005105;O14792;XP_005248278 Hs.507348;Hs.605349 1748517;1790211;2115934;2180090;2189107 AA963021;D4S3288;G65160;RH78843;SHGC-31234 3OST;3OST1 3-OST-1;OTTHUMP00000115651;OTTHUMP00000218044;OTTHUMP00000218045;h3-OST-1;heparan sulfate 3-O-sulfotransferase 1;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1;heparan sulfate glucosamine 3-O-sulfotransferase 1;heparin-glucosamine 3-O-sulfotransferase APPROVED protein-coding HGNC:5194 04455 603244 REVIEWED 1316454 HS3ST3B1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq, Jul 2008] 17 17 17 p12 14228464 14273440 + 14204367 14252721 + 14301050 14349404 + 1580863;6480464;6907045 10520990;12384783;12477932;14702039;15304505;15489334;18464913;20705311;20797317;21709440;22475533;23291589;24127555;7744762;9988767;9988768 9953 Q9Y662 ABBA01055033;AC005224;AC022816;AF105377;AK023723;AMYH02033034;AMYH02033035;BC063301;BC069664;BC069725;CH471108;NM_006041;XR_243575 AAD30209;AAH63301;AAH69664;AAH69725;BAG51220;EAW89953;EAW89954;NP_006032;Q9Y662 Hs.48384 1696064;1856813;2135116;2142982;2185378;5037552 D8S2279;L29896;SHGC-83228;STS-H63634;STS-W95041;WI-12681 30ST3B1;3OST3B1 3-OST-3B;OTTHUMP00000064702;h3-OST-3B;heparan sulfate 3-O-sulfotransferase 3B1;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1;heparan sulfate glucosamine 3-O-sulfotransferase 3B1 APPROVED protein-coding HGNC:5198 04959 604058 REVIEWED 1314962 HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM, Mar 2008] 6 6 6 q21 115118158 115125449 - 114376750 114663540 - 114055586 114228778 - 1580863;6480464;6907045;8554872 12138164;12477932;12740361;14702039;15026143;15489334;16099108;18978678;24086445 222537 Q3LID4;Q8IZT8 AB074164;ABBA01026061;AF503292;AK091074;AK126930;AK289907;AL355498;AL500524;AMYH02014333;BC093911;BC093913;CH471051;NM_153612;XM_006715379 AAH93911;AAH93913;AAN37737;BAE45734;BAF82596;EAW48251;NP_705840;Q8IZT8;XP_006715442 Hs.645477 2191065;2219140 HS3ST5__6593;MARC_13929-13930:1007579405:1 3-OST-5;3OST5;HS3OST5;NBLA04021 Nbla04021 product-like;h3-OST-5;heparan sulfate 3-O-sulfotransferase 5;heparan sulfate 3-OST-5;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 5;heparan sulfate glucosamine 3-O-sulfotransferase 5 APPROVED protein-coding ENSG00000249853 HGNC:19419 13674 609407 VALIDATED 1344226 HS3ST6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 ENCODES a protein that exhibits [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (ortholog); INVOLVED IN carbohydrate metabolic process (inferred); glycosaminoglycan biosynthetic process (inferred); glycosaminoglycan metabolic process (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); amitriptyline (ortholog) 16 16 16 p13.3 2173672 2180439 - 1961464 1968231 - 1911463 1918230 - 1580863;6480464 11157797;12138164;12740361;12907690;15303968;15616553 64711 J3KR40;Q96QI5 ABBA01030288;AE006640;AL031723;AMYH02031239;CH471112;CK300523;DY654407;NM_001009606 AAI56439;AAI72540;AAK61299;EAW85602;EAW85603;NP_001009606;Q96QI5 Hs.670144 HS3ST5 3-OST-6;OTTHUMP00000045529;h3-OST-6;heparan sulfate (glucosamine) 3-O-sulfotransferase 5;heparan sulfate 3-O-sulfotransferase 6;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 6;heparan sulfate glucosamine 3-O-sulfotransferase 6;heparan sulphate D-glucosaminyl 3-O-sulfotransferase-3B like protein-coding ENSG00000162040 HGNC:14178 17115 VALIDATED 1319437 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q21 122329574 122382723 - 129023054 129076171 - 128265480 128318597 - 1580863;6480464;6907045;8699517;8554872;7240710 12477932;12492399;15342556;15489334;15815621;20379614;21700882;23362303;24501377;24563483;9535912 9394 O60243 AB006179;ABBA01040173;AC017079;AK058121;AL831893;AMYH02004748;BC001196;BC019025;BC047087;BC063521;BC096239;BC096240;BC099638;BC099639;BP219645;CH471103;CV569969;DR005030;NG_032966;NM_004807 AAH01196;AAH96239;AAH96240;AAH99638;AAH99639;AAY14736;BAA25760;EAW95357;EAW95358;EAW95359;NP_004798;O60243 Hs.512841 1650788;1687401;1784046;5113350;5492833 IB2493;RH76508;RH78052;SHGC-145341;UniSTS:482962 DKFZp547H098;FLJ25392;HH15;HS6ST;MGC116899;MGC116901 HS6ST-1;OTTHUMP00000204080;heparan-sulfate 6-O-sulfotransferase 1;heparan-sulfate 6-sulfotransferase APPROVED protein-coding ENSG00000136720 HGNC:5201 07274 604846;614880 REVIEWED 1346869 HS6ST1P1 heparan sulfate 6-O-sulfotransferase 1 pseudogene 1 2 1 1 p36.12 122329574 122332967 - 21754761 21758727 + 21428268 21432234 + 388605 ABBA01059812;ABBA01059813;AL592309;AMYH02000452;NG_005670 1650788;1687401 IB2493;RH76508 HS6ST1P APPROVED pseudo HGNC:31835 INFERRED 6481307 HS6ST2-AS1 HS6ST2 antisense RNA 1 X X 131801670 131803916 + 132667642 132669888 + 100874102 ABBA01042257;AMYH02040503;BQ001311;HG512689;NR_046691;Z86064 Hs.619341 RP3-435D1.4 APPROVED ncrna ENSG00000235849 HGNC:40870 PREDICTED 1605906 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q26.2 132146408 132481789 - 131760038 132095423 - 132626010 132961395 - 6480464;6907045;8554872 10644753;12477932;12492399;14702039;15489334;15772651;16303743;21443520;24024966;24563483 90161 B7Z5H6;J3KP99;Q96MM7 AB067776;AB067777;ABBA01042249;ABBA01042250;ABBA01042251;ABBA01042252;ABBA01042253;ABBA01042254;ABBA01042255;ABBA01042256;ABBA01042257;ABBA01042258;ABBA01042259;ABBA01042260;ABBA01042261;ABBA01042262;ABBA01042263;ABBA01042264;ABBA01042265;ABBA01042266;ABBA01042267;ABBA01042268;ABBA01042269;ABBA01042270;ABBA01042271;ABBA01042272;ABBA01042273;ABBA01042274;ABBA01042275;ABBA01042276;ABBA01042277;ABBA01042278;ABBA01042279;ABBA01042280;ABBA01042281;ABBA01042282;ABBA01042283;ABBA01042284;ABBA01042285;ABBA01042286;ABBA01042287;ABBA01042288;AI253113;AK027720;AK056706;AK075402;AK295041;AK295118;AK298956;AL022159;AL022309;AL049679;AL831923;AMYH02040502;AMYH02040503;AMYH02040504;AMYH02040505;AMYH02040506;BC037325;BC094718;BC110620;BC110621;KF459414;KF459415;KF459417;KF459419;KF459420;KF459421;NG_012840;NM_001077188;NM_147175;XM_005262490;XM_005262491;XM_006724790;Z81365;Z82205;Z86064 AAH37325;AAH94718;AAI10621;AAI10622;BAB55322;BAB71260;BAC07183;BAC07184;BAC11597;BAH11957;BAH11981;BAH12912;CAB41248;CAD38583;NP_001070656;NP_671704;Q96MM7;XP_005262547;XP_005262548;XP_006724853 Hs.385956 1645541;1659739;1676254;1694314;1694386;1702334;1702636;1702808;1702972;1709292;1748133;1748165;1748167;1774212;1847571;2122080;2134724;2136343;2147426;2161432;2167780;2169068;2191483;2219142;5094452;5094454;5094500;7184800 AFMa203zh5;AL008920;AL008921;AL023922;DXS1308;DXS692;DXS7050;DXS7348;DXS7350;DXS7351;DXS7352;DXS7811;G30605;G42852;G42888;G54806;G54807;G54850;G66648;G66742;G66743;HS6ST2__6595;MARC_23783-23784:1027523790:1;RH47723;RH98637;SHGC-85845;UniSTS:99463 MGC130022;MGC130023 HS6ST-2;OTTHUMP00000024050;OTTHUMP00000211170;heparan-sulfate 6-O-sulfotransferase 2 APPROVED protein-coding ENSG00000171004 HGNC:19133 06590 300545 REVIEWED 736685 HSBP1 heat shock factor binding protein 1 The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes. Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. [provided by RefSeq, Jul 2008] 16 16 16 q23.3 68142699 68147697 + 83841508 83846607 + 83807903 83813002 + 1580863;6480464 11679589;12477932;15489334;16189514;16303743;18767159;20562859;21247889;21906983;22939629;23383273;9493008;9649501 3281 H3BR28;O75506 ABBA01016933;AC009119;AF068754;AK026575;AK172732;AMYH02032552;AMYH02032553;AY320409;BC007515;BX366956;BX537440;BX648972;CH471114;DB519225;NM_001537 AAC25186;AAH07515;AAP73809;ACE86514;CAD97682;EAW95514;NP_001528;O75506 Hs.250899 1666560;1679666;1712096;1712166;1713139;1737573;2115573;2166777 D16S2665;D16S3242;G54097;RH120356;RH41809;RH65446;SHGC-31940;UniSTS:109370 DKFZp686D1664;DKFZp686O24200;NPC-A-13 heat shock factor-binding protein 1;nasopharyngeal carcinoma-associated antigen 13 APPROVED protein-coding HGNC:5203 05185 604553 REVIEWED 2902676 HSBP1L1 heat shock factor binding protein 1-like 1 INTERACTS WITH 17beta-estradiol; iron atom; iron(0) 18 18 18 q23 74497054 74503294 + 77724582 77730822 + 79964582 79970822 + 6480464 12477932;14702039;16344560 440498 C9JCN9;K7ENV5 ABBA01013902;AC090360;AC114341;AK001829;AMYH02035070;BC017654;BC040056;BC157848;CA444419;CH471117;DA919112;NM_001136180;XM_006722476 AAI57849;C9JCN9;EAW66638;NP_001129652;XP_006722539 Hs.191582 1666111;5122033 RH45894;STS-N32189 FLJ10967;MGC189743 heat shock factor binding protein 1-like;heat shock factor-binding protein 1-like protein 1 protein-coding ENSG00000226742 HGNC:37243 VALIDATED 1348838 HSBP1P1 heat shock factor binding protein 1 pseudogene 1 14 14 14 q23.1 38980575 38981097 + 58930607 58931127 + 58463889 58464409 + 326296 ABBA01018261;AL139021;AMYH02029282;NG_002548 1679666 RH41809 pseudo HGNC:20053 INFERRED 2902401 HSBP1P2 heat shock factor binding protein 1 pseudogene 2 4 4 4 q25 108466715 108467219 - 111172778 111173282 - 110251622 110252126 - 9847074 100288483 ABBA01063794;AC108145;AMYH02009910;NG_012919 pseudo HGNC:37300 INFERRED 1314189 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008] 13 13 13 q32.1 77590616 78339250 + 96743093 97491816 + 96090839 96839562 + 1580863;6480464;6907045;8554872 10644753;11991713;12477932;14702039;15057823;15226404;20379614;21310492;21647334;23563607;24371161 266722 B3KX95;Q8IZP7 ABBA01027168;ABBA01027169;ABBA01027170;ABBA01027171;ABBA01027172;ABBA01027173;AF339796;AF339824;AF539426;AI937089;AK091343;AK124236;AK126947;AL138816;AL139087;AL158192;AL159979;AL160253;AL353581;AL356098;AMYH02028531;AMYH02028532;AMYH02028533;AMYH02028534;AMYH02028535;AMYH02028536;AMYH02028537;AMYH02028538;AMYH02028539;BC037795;CH471085;CR749677;NM_153456;XM_003846570 AAI56338;AAI57126;AAN33062;BAG54407;CAH18468;EAX08963;NP_703157;Q8IZP7;XP_003846618 Hs.171001;Hs.740393 1337026;1338731;1644237;1647313;1662394;1669157;1694862;1703282;1723019;1736378;1757765;1757773;1778052;1782870;1782906;2113312;2113388;2113392;2113398;2142258;2159505 A002U05;D13S1280;D13S132;D13S1717;D13S1758;D13S1760;D13S1763;D13S254;D13S877E;G17704;G44302;G60459;RH77922;RH78584;SHGC-146476;SHGC-146494;SHGC-149555;SHGC-155001;SHGC-68276;SHGC-8118;WI-14918 DKFZp761K2315;HS6ST-3 OTTHUMP00000018574;heparan-sulfate 6-O-sulfotransferase 3 APPROVED protein-coding ENSG00000185352 HGNC:19134 11030 609401 VALIDATED 1602295 HSCB HscB mitochondrial iron-sulfur cluster co-chaperone ENCODES a protein that exhibits chaperone binding (inferred); metal ion binding (inferred); INVOLVED IN iron-sulfur cluster assembly; FOUND IN centrosome; cytoplasm; mitochondrion; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 3,3',5-triiodo-L-thyronine 22 22 22 q12.1 12938022 12953467 + 29138008 29153506 + 28742023 28757518 + 6480464 10591208;12477932;12938016;15461802;15489334;16952052;18000879;18713742;20668094;20729852;20877624;23940031 150274 B0QYH2;F8WBY7;Q8IWL3 ABBA01055239;AL023494;AL117330;AMYH02038192;AY191719;BC065569;CH471095;CR456462;NM_172002;XM_005261359;XM_005261360;XM_005261361 AAH65569;AAN85282;CAG30348;EAW59758;EAW59759;EAW59760;NP_741999;Q8IWL3;XP_005261416;XP_005261417;XP_005261418 Hs.632780 1767567;1781126;1791462;2152690;5093592 A009S23;G32810;PMC111029P1;RH17891;stdJ366L4.X.6856 DNAJC20;HSC20;JAC1;MGC2637;MGC74462;dJ366L4.2 DnaJ (Hsp40) homolog, subfamily C, member 20;HscB iron-sulfur cluster co-chaperone homolog;J-type co-chaperone HSC20;OTTHUMP00000199107;dnaJ homolog subfamily C member 20;iron-sulfur cluster co-chaperone protein HscB, mitochondrial APPROVED protein-coding ENSG00000100209 HGNC:28913 16289 608142 VALIDATED 1352921 HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 24481172 24925414 + 25703347 26149009 + 25692026 26137688 + 6480464;8554872 12080045;16259945;17482450;18757372;20379614;23251661;24324551;9988767 9951 Q9Y661 ABBA01017127;ABBA01017128;ABBA01017129;ABBA01017130;ABBA01017131;AC092141;AC093509;AC093511;AC093516;AC093524;AF105378;AL834283;AMYH02031753;AMYH02031754;AMYH02031755;AMYH02031756;AY476736;CH471145;EF063601;EF063602;EF063603;EF063604;EF063605;EF063606;EF063607;EF063608;NM_006040 AAD30210;AAI56388;AAI57118;AAS58324;ABN79912;ABN79913;ABN79914;ABN79915;ABN79916;ABN79917;ABN79918;ABN79919;CAD38957;EAW55764;NP_006031;Q9Y661 Hs.655275 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1540;REN21541;REN21542;REN21543;REN21544;REN21545;REN21546;REN21547;REN21548;REN21549;REN21550;REN21551;REN21552;REN21553;REN21554;REN21555;REN21556;REN21557;REN21558;REN21559;REN21560;REN21561;REN21562;REN21563;REN21564;REN21565;REN21566;REN21567;REN21568;REN21569;REN21570;REN21571;REN21572;REN21573;REN21574;REN21575;REN21576;REN21577;REN21578;REN21579;REN21580;REN21581;REN21582;REN21583;REN21584;REN21585;REN21586;REN21587;REN21588;REN21589;REN21590;REN21591;REN21592;REN21593;REN21594;REN21595;REN21596;REN21597;REN21598;REN21599;REN21600;REN21601;REN21602;REN21603;REN21604;REN21605;REN21606;REN21607;REN21608;REN21609;REN21610;REN21611;REN21612;REN21613;REN21614;REN21615;REN21616;REN21617;REN21618;REN21619;REN21620;REN21621;REN21622;REN21623;REN21624;REN21625;REN21626;REN21627;REN21628;REN21629;REN21630;REN21631;REN21632;REN21633;REN21634;REN21635;REN21636;REN21637;REN21638;REN21639;REN21640;REN21641;REN21642;REN21643;REN21644;REN21645;REN21646;REN21647;REN21648;REN21649;REN21650;REN21651;REN21652;REN21653;REN21654;REN21655;REN21656;REN21657;REN21658;REN21659;REN21660;REN21661;REN21662;REN21663;REN21664;REN21665;REN21666;REN21667;REN21668;REN21669;REN21670;REN21671;REN21672;REN21673;REN21675;REN21676;REN21677;REN21678;REN21679;REN21680;REN21681;REN21682;REN21683;REN21684;REN21685;REN21686;REN21687;REN21688;REN21689;REN21690;REN21691;REN21692;REN21693;REN21694;REN21695;REN21696;REN21697;REN21698;REN21699;REN21700;REN21701;REN21702;REN21703;REN21704;REN21705;REN21706;REN21707;REN21708;REN21709;REN21710;REN21711;REN21712;REN21713;REN21714;REN21715;REN21716;REN21718;REN21719;REN21720;REN21721;REN21722;REN21723;REN21724;REN21725;REN21726;REN21727;REN21728;REN21729;REN21730;REN21731;REN21732;REN21733;REN21734;REN21735;REN21736;REN21737;REN21738;REN21739;REN21740;REN21741;REN21742;REN21743;REN21744;REN21745;REN21746;REN21747;REN21748;REN21749;REN21750;REN21751;REN21752;REN21753;REN21754;REN21755;REN21756;REN21757;REN21758;REN21759;REN21760;REN21761;REN21762;REN21763;REN21764;REN21765;REN21766;REN21767;REN21768;REN21769;REN21770;REN21771;REN21772;REN21773;REN21774;REN21775;REN21776;REN21777;REN21778;REN21779;REN21780;REN21781;REN21782;REN21783;REN21784;REN21785;REN21786;REN21787;REN21788;REN21789;REN21790;REN21791;REN21792;REN21793;REN21794;REN21795;REN21796;REN21797;REN21798;REN21799;REN21800;REN21801;REN21802;REN21803;REN21804;REN21805;REN21806;REN21807;REN21808;REN21809;REN21810;REN21811;REN21812;REN21813;REN21814;REN21815;REN21816;REN21817;REN21818;REN21819;REN21820;REN21821;REN21822;REN21823;REN21824;REN21825;REN21826;REN21827;REN21828;REN21829;REN21830;REN21831;REN21832;REN21833;REN21834;REN21835;REN21836;REN21837;REN21838;REN21839;REN21840;REN21841;REN21842;REN21843;REN21844;REN21845;REN21846;REN21847;RH121627;SHGC-146547;SHGC-146814;SHGC-147287;SHGC-148620;SHGC-149010;SHGC-149011;SHGC-149801;SHGC-153290;SHGC-155050;SHGC-60604;SHGC-60715;SHGC-81087;SHGC-83027;stSG622005;stSG622006;stSG622008;stSG622009;stSG622010;stSG622011;stSG622012;stSG622013;stSG622014;stSG622015;stSG622016;stSG622017;stSG622018;stSG622019;stSG622020;stSG622021;stSG622022;stSG622023;stSG622024;stSG622025;stSG622026;stSG622027;stSG622028;stSG622029;stSG622031;stSG622032;stSG622033;stSG622034;stSG622035;stSG622037;stSG622038;stSG622039;stSG622040;stSG622041;stSG622042;stSG622043;stSG622044;stSG622045;stSG622046;stSG622047;stSG622048;stSG622049;stSG622050;stSG622051;stSG622052;stSG622053;stSG622054;stSG622055;stSG622056;stSG622057;stSG622058;stSG622059;stSG622060;stSG622061;stSG622062;stSG622063;stSG622064;stSG622065;stSG622066;stSG622067;stSG622068;stSG622069;stSG622070;stSG622071;stSG622072;stSG622073;stSG622074;stSG622075;stSG622076;stSG622077;stSG622078;stSG622079;stSG622080;stSG622081;stSG622082;stSG622083;stSG622084;stSG622085;stSG622086;stSG622087;stSG622088;stSG622089;stSG622090;stSG622091;stSG622092;stSG622093;stSG622094;stSG622095;stSG622096;stSG622097;stSG622098;stSG622099;stSG622100;stSG622101;stSG622102;stSG622103;stSG622104;stSG622105;stSG622106;stSG622108;stSG622109;stSG622110;stSG622111;stSG622112;stSG622113;stSG622114;stSG622115;stSG622118;stSG622119;stSG622120;stSG622121;stSG622122;stSG622123;stSG622124;stSG622125;stSG622126;stSG622127;stSG622128;stSG622129;stSG622130;stSG622131;stSG622132;stSG622133;stSG622134;stSG622135;stSG622136;stSG622137;stSG622138;stSG622139;stSG622140;stSG622141;stSG622142;stSG622143;stSG622144;stSG622145;stSG622146;stSG622147;stSG622148;stSG622149;stSG622158;stSG622159;stSG622160;stSG622161;stSG622162;stSG622163;stSG622164;stSG622165;stSG622166;stSG622167;stSG622168;stSG622169;stSG622170;stSG622171;stSG622172;stSG622173;stSG622174;stSG622175;stSG622178;stSG622179;stSG622180;stSG622181;stSG622182;stSG622183;stSG622184;stSG622185;stSG622186;stSG622187;stSG622188;stSG622189;stSG622190;stSG622191;stSG622192;stSG622193;stSG622194;stSG622195;stSG622196;stSG622197;stSG622198;stSG622199;stSG622200;stSG622201;stSG622203;stSG622204;stSG622205;stSG622206;stSG622207;stSG622208;stSG622209;stSG622210;stSG622211;stSG622212;stSG622213;stSG622214;stSG622215;stSG622216;stSG622217;stSG622218;stSG622219;stSG622220;stSG622221;stSG622223;stSG622224;stSG622225;stSG622226;stSG622227;stSG622229;stSG622230;stSG622231;stSG622232;stSG622233;stSG622234 3-OST-4;30ST4;3OST4;h3-OST-4 OTTHUMP00000066342;heparan sulfate 3-O-sulfotransferase 4;heparan sulfate 3-O-sulfotransferase-4;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4;heparan sulfate glucosamine 3-O-sulfotransferase 4 APPROVED protein-coding ENSG00000182601 HGNC:5200 04960 604059 REVIEWED 1605800 HSD11B1L hydroxysteroid (11-beta) dehydrogenase 1-like This gene is a member of the hydroxysteroid dehydrogenase family. The encoded protein is similar to an enzyme that catalyzes the interconversion of inactive to active glucocorticoids (e.g. cortisone). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012] 19 19 19 p13.3 5618402 5625900 + 5680776 5688534 + 5680765 5688523 + 6480464 12477932;15342248;16344560;19436836;20350543;21145461 374875 J3KRL3;J3KTC8;J3QKQ3;J3QKX1;J3QS77;J3QSE6;Q7Z5J1 ABBA01056001;AC011499;AI871311;AK308206;AMYH02035330;AMYH02035331;AY268351;AY268352;AY268353;AY268354;AY313894;AY313895;AY313896;BC018336;BC053546;BC062777;BC072434;BC093950;BC094798;BC112187;CH471139;CX865680;DA343367;NM_001267868;NM_001267869;NM_001267870;NM_001267871;NM_198533;NM_198704;NM_198705;NM_198706;NM_198707;NM_198708 AAH18336;AAH53546;AAH72434;AAH93950;AAI12188;AAI52754;AAP42285;AAP42286;AAP42287;AAP42288;AAP83166;AAP83167;AAP83168;EAW69156;EAW69157;NP_001254797;NP_001254798;NP_001254799;NP_001254800;NP_940935;NP_941993;NP_941994;NP_941995;NP_941996;NP_941997;Q7Z5J1 Hs.631840;Hs.739286 2164258;5493149 RH78043;UniSTS:484450 11-DH3;11-beta-HSD3;HSD3;SCDR10;SCDR10B;SDR26C2 11-beta-hydroxysteroid dehydrogenase type 3;hydroxysteroid 11-beta-dehydrogenase 1-like protein;short chain dehydrogenase/reductase 10;short chain dehydrogenase/reductase family 26C, member 2;short-chain dehydrogenase/reductase 10 APPROVED protein-coding ENSG00000167733 HGNC:30419 18022 REVIEWED 737468 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010] 16 16 16 q22 51973237 51979660 + 67465036 67471456 + 67431133 67437553 + 1300048;1625078;1580863;1625083;2308925;2308939;2308941;2308922;2308923;2308924;2308940;6480464;6907045;8699517;8554872;7240710 10792625;11916625;15793240;16616286;17272666;17475897;17519316;17587755;9683587 10489390;10523339;10948076;11238516;11350956;11711524;11755176;11787058;11850421;11956655;12015312;12082639;12109593;12161498;12364476;12417987;12477932;12519895;12574226;12642869;12788832;12788846;12860834;12878208;12911547;14629298;14681848;14981055;15167446;15172126;15305225;15466942;15489334;15489962;15591138;15643119;15643127;15673310;16061836;16109323;16144812;16271275;16272800;16406280;16778331;16804865;16872738;16979406;17028049;17515840;17551100;18032417;18061258;18178212;18378698;18388900;18408592;18421276;18456686;18573267;18716005;18837962;19022342;19027726;19048413;19150652;19218882;19292059;19336370;19535674;19542242;19811365;19880179;19909806;20214802;20486282;20571110;20597806;20624455;20800085;21237268;21767875;21794917;21825133;21880714;22001010;22239940;22359645;22432047;22632162;22719058;22796344;22872687;22959142;22971074;23303402;23329753;23333641;23357976;23362866;23443726;23446772;23659736;23714681;23966319;23979790;24040322;24054540;24149070;24169559;24262137;24447082;24517145;2845584;2889032;7593417;7608290;7656579;7670488;7859916;8530071;8547170;8611140;8611186;9034789;9398712;9661590;9707624;9851783 3291 P80365;R4GN04 ABBA01025437;AC009061;AMYH02032232;AY046280;BC036780;BC064536;CH471092;EF694683;FJ515828;NG_016549;NM_000196;U14631;U26726;U27317 AAA91969;AAB48544;AAC50356;AAH36780;AAH64536;AAK91586;ABS29267;ACS13714;EAW83134;NP_000187;P80365 Hs.1376 1677734;1768493;2117086;2150935;2181185 AF071493;RH64980;RH70275;SHGC-33002;WI-9392 11-DH2;11-beta-HSD;11-beta-HSD2;AME;AME1;HSD11K;HSD2;SDR9C3 -HSD11 type II;11-beta-hydroxysteroid dehydrogenase type 2;11-beta-hydroxysteroid dehydrogenase type II;NAD-dependent 11-beta-hydroxysteroid dehydrogenase;OTTHUMP00000174801;corticosteroid 11-beta-dehydrogenase isozyme 2;hydroxysteroid 11-beta dehydrogenase 2;short chain dehydrogenase/reductase family 9C member 3 APPROVED protein-coding ENSG00000176387 HGNC:5209 01958 218030;614232 REVIEWED 737091 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011] 1 1 1 q32-q41 183090437 183139187 + 209859525 209908295 + 209686180 209734950 + 1300048;1625067;1625071;1625075;1331525;6480464;6907045;8699517;7240710;8554872 12858176;15118671;16914598;16929377 10497248;10497258;10645953;10962348;11114699;11755176;11956655;12109593;12202416;12390875;12414862;12477932;12530648;12530692;12788882;12861241;12915682;12915696;12960005;14557491;14583441;14682470;14742837;15095019;15152005;15156315;15167446;15172126;15181046;15280030;15452033;15455200;15466942;15489334;15513927;15536220;15583024;15591536;15827106;15855321;15941907;16091483;16236446;16343739;16368752;16406280;16412558;16469798;16551740;16580270;16603347;16622297;16710414;16855188;16996097;17032748;17062770;17306259;17467270;17495191;17519316;17588937;17766714;17825335;17912154;17922306;18031327;18261751;18313835;18379559;18388900;18434359;18573267;18592327;18611262;18633104;18665910;18716005;18769825;18778749;18818748;18837961;1885595;18963204;19010388;19019335;19022342;19022912;19027726;19088256;19121282;19129713;19158196;19167490;19235128;19251840;19282465;19336370;19429429;19453261;19491387;19527514;19535162;19540999;19542242;19549748;19564704;19567539;19571556;19598235;19651257;19675138;19690925;19806478;19876004;19880789;19913121;19934376;19946888;20041117;20045052;20100573;20140262;20214802;20416077;20486282;20514603;20628086;20739946;20800085;20826586;21111044;21147223;21189603;21215738;21249616;21266326;21267686;21304964;21325058;21362233;21402901;21453287;21544007;21622477;21695543;21704348;21736538;21825133;21869537;21988832;22112815;22136330;22179810;22207732;22238371;22310475;22357964;22384521;22445027;22719058;22986073;23007990;23009206;23017470;23090578;23190557;23362866;23375992;23612224;23659736;23678035;23701286;23722901;23778418;23836520;23869418;23874920;23979790;24054540;24055708;24061267;24086653;24149070;24243637;24285685;24391882;24447082;7545619;7670488;9034789;9543163;9555943 3290 P28845;X5D2L1 ABBA01048215;AK313973;AL022398;AL031316;AMYH02002598;AMYH02002599;AMYH02002600;AY044084;BC012593;BG619051;BM994393;BX345837;CB530075;CF596989;CF597174;CH471100;KJ534869;M76661;M76662;M76663;M76664;M76665;NG_012081;NM_001206741;NM_005525;NM_181755 AAC31757;AAH12593;AAK83653;ABM83838;ABW03522;AHW56509;BAG36688;EAW93445;EAW93446;NP_001193670;NP_005516;NP_861420;P28845 Hs.195040 1793936;2126774;2150185;2162343 D1S2136;PMC310500P4;RH69177;SHGC-76294 11-DH;11-beta-HSD1;CORTRD2;HDL;HSD11;HSD11B;HSD11L;MGC13539;SDR26C1 11-beta-hydroxysteroid dehydrogenase 1;OTTHUMP00000034649;OTTHUMP00000034650;corticosteroid 11-beta-dehydrogenase isozyme 1;hydroxysteroid 11-beta dehydrogenase 1;short chain dehydrogenase/reductase family 26C, member 1 APPROVED protein-coding ENSG00000117594 HGNC:5208 07042 600713;614662 REVIEWED 732223 HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014] X X X p11.2 57289763 57292880 - 53458206 53461323 - 53431258 53434376 - 1358426;704404;1580863;1300048;6480464;6907045;7240710;8554872;8699517 9338779 10329704;10371197;10600649;11403151;11430884;11559359;11869808;12477932;12696021;12917011;14672739;15087549;15342248;15489334;15665036;15804423;16021519;16148061;16176262;16344560;16899120;17236142;17266347;17500595;17618155;17707551;17917077;18252223;18765932;18984158;19027726;19343046;19422801;19449377;19601895;19706438;19738201;19756307;20000738;20077426;20186120;20638476;20664630;21081666;21139048;21145461;21382475;21890473;21900206;21906983;21907836;22127393;22174920;22271489;22623428;22863883;22939629;23000965;23166591;23266819;23473034;23667531;23755257;23834306;23874603;24244276;24337577;24550385;24583282;25007702;8687463;9553139;9671743;9712734;9851691;9890977 3028 Q5H928;Q99714 ABBA01056416;AC233728;AF035555;AF037438;AF069134;AMYH02039464;AU132847;AY092415;BC000372;BC000829;BC008708;CH471154;CR456723;NG_008153;NM_001037811;NM_004493;U73514;U96132;Z97054 AAB68958;AAC15902;AAC16419;AAC39900;AAC51812;AAH00372;AAH08708;AAM18189;ADZ15690;CAG33004;CAI42651;CAI42652;CAI42653;EAW93157;EAW93158;EAW93159;NP_001032900;NP_004484;Q99714 Hs.171280 2137556;2159480 RH1705;SHGC-31766 17b-HSD10;ABAD;CAMR;DUPXp11.22;ERAB;HADH2;HCD2;MHBD;MRPP2;MRX17;MRX31;MRXS10;SCHAD;SDR5C1 3-hydroxy-2-methylbutyryl-CoA dehydrogenase;3-hydroxyacyl-CoA dehydrogenase type-2;AB-binding alcohol dehydrogenase;OTTHUMP00000023348;OTTHUMP00000023349;OTTHUMP00000023350;amyloid-beta peptide binding alcohol dehydrogenase;endoplasmic reticulum-associated amyloid beta-peptide-binding protein;mitochondrial RNase P subunit 2;mitochondrial ribonuclease P protein 2;short chain L-3-hydroxyacyl-CoA dehydrogenase type 2;short chain dehydrogenase/reductase family 5C, member 1;short chain type dehydrogenase/reductase XH98G2 APPROVED protein-coding ENSG00000072506 HGNC:4800 02223 300220;300256;300438 REVIEWED 1352920 HSD17B11 hydroxysteroid (17-beta) dehydrogenase 11 Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009] 4 4 4 q22.1 85546623 85601607 - 88257691 88312455 - 87336539 87391303 - 1580863;6480464 10800688;11165019;12477932;12697717;12975309;14741744;14996095;15489334;16303743;16344560;16712791;18029348;18804447;19027726;19322201;19469652;21139048;21549806;21890473;21906983;22268729;22505724;22797925;23568457;9888557 51170 D6RCD0;Q8NBQ5 ABBA01063533;ABBA01063534;AC108516;AF126780;AF273056;AK075348;AMYH02009670;AMYH02009671;AMYH02009672;AMYH02009673;AMYH02009674;AMYH02009675;AMYH02009676;AY062939;AY358553;BC008650;BC011995;BC014327;BC016367;BC021673;BC036001;BM976691;BU838518;CA775960;CB163647;CH471057;DA265697;KF459875;NM_016245;XM_006714232 AAF06939;AAH08650;AAH14327;AAH16367;AAH21673;AAH36001;AAL48315;AAM44459;AAQ88917;BAC11560;EAX05987;NP_057329;Q8NBQ5;XP_006714295 Hs.594923 1674200;1773802;2217258 D4S3294;DHRS8_3587;RH36051 17BHSD11;DHRS8;PAN1B;RETSDR2;SDR16C2 17-BETA-HSD11;17-BETA-HSDXI;17-beta-HSD 11;17-beta-HSD XI;17-beta-hydroxysteroid dehydrogenase 11;17-beta-hydroxysteroid dehydrogenase XI;17-beta-hydroxysteroid dehydrogenase type XI;CTCL tumor antigen HD-CL-03;CTCL-associated antigen HD-CL-03;OTTHUMP00000161168;OTTHUMP00000219651;T-cell lymphoma-associated antigen HD-CL-03;cutaneous T-cell lymphoma-associated antigen HD-CL-03;dehydrogenase/reductase (SDR family) member 8;dehydrogenase/reductase SDR family member 8;estradiol 17-beta-dehydrogenase 11;retinal short-chain dehydrogenase/reductase 2;short chain dehydrogenase/reductase family 16C, member 2 APPROVED protein-coding ENSG00000198189 HGNC:22960 10881 612831 VALIDATED 1353008 HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2 ENCODES a protein that exhibits estradiol 17-beta-dehydrogenase activity; testosterone dehydrogenase (NAD+) activity; INVOLVED IN response to retinoic acid; PARTICIPATES IN estradiol biosynthetic pathway; steroid hormone biosynthetic pathway; testosterone biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum membrane (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methoxy-17beta-estradiol 16 16 16 q24.1-q24.2 66367527 66430804 + 82068842 82132139 + 82035237 82098534 + 1580863;4889549;6480464;6907045;8554872 15583024 10999824;11672453;11940569;12161528;12477932;12957669;14634838;14666693;15199113;15342556;15489334;16344560;16595205;16807381;16954436;17081983;17260097;17505937;17507624;17510238;17538076;17953976;17993718;18348690;18372405;18510611;18636124;18676680;18794456;18980759;18984855;18996480;19027726;19170196;19401349;19415745;19453261;19556422;19574343;19598235;19625176;19692168;19729830;19797119;20148360;20200332;20214802;20379614;20453000;20634197;20734064;21365123;21877158;21900597;22546946;24938708;7546291;7626483;7759109;7824086;8099587;8125298;8855807;8889548;9360554;9435439;9783542 3294 H3BNN1;H3BQY3;H3BRZ6;H3BS44;H3BV42;P37059 ABBA01016950;ABBA01016951;ABBA01016952;AC092142;AK223001;AK313109;AMYH02032523;AMYH02032524;AU139034;AY325910;BC009581;BC059170;BM670647;BP270993;CH471114;L11708;L40802;NM_002153;XR_243405 AAA03562;AAC41917;AAH09581;AAH59170;AAP78485;ABM84026;ABM87371;BAD96721;BAG35931;EAW95519;NP_002144;P37059 Hs.162795 1688921;1738599;1744773;2128798;2153273;2156014 D16S2749;D16S3306;GDB:568470;RH65145;RH69006;SHGC-61197 17-beta-HSD 2;20-alpha-HSD;E2DH;EDH17B2;HSD17;SDR9C2 17-beta-hydroxysteroid dehydrogenase type 2;20 alpha-hydroxysteroid dehydrogenase;OTTHUMP00000174979;estradiol 17-beta-dehydrogenase 2;microsomal 17-beta-hydroxysteroid dehydrogenase;short chain dehydrogenase/reductase family 9C, member 2;testosterone 17-beta-dehydrogenase protein-coding ENSG00000086696 HGNC:5211 00186 109685 VALIDATED 1346748 HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12 This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011] 11 11 11 p11.2 43848404 44024379 + 43702108 43878169 + 43680593 43856619 + 6480464;6907045 12477932;12482854;14702039;15342556;15489334;16113833;16166196;16196087;16621523;19027726;19190350;19429442;19460435;19533843;20562859;20677014;20937905;21139048;21409596;21890473;21906983;22190034;22678362;22797925;22903146;22941191;23246001;23435447;23464991;23752268;23798571;23956138;24058506;24163370;24457600;24816145;8125298;8944226 51144 E9PI21;Q53GQ0 ABBA01060774;ABBA01060775;ABBA01060776;AC068205;AC087521;AF078850;AK027882;AK074952;AK075011;AK075216;AK092938;AK222881;AK292625;AK301663;AMYH02024677;AMYH02024678;AMYH02024679;AMYH02024680;BC012043;BC012536;BP359822;BX537496;CH471064;CQ783872;CQ783997;NM_016142 AAD44482;AAH12043;AAH12536;ABW03509;BAD96601;BAF85314;BAG52039;BAG52052;BAG52086;BAG63138;CAF86901;CAF86962;EAW68080;EAW68081;EAW68082;EAW68083;EAW68084;EAW68085;EAW68086;EAW68087;EAW68088;EAW68089;NP_057226;Q53GQ0 Hs.132513 1737051;1754023;1797710;1850095;2119642;2130690;2187014;5014051;5015619;5022200;5037552 D11S2799;D11S3114;D11S4606;D8S2278;D8S2279;HSD17B12_1813;L18426;RH44317;SHGC-132062;STS-H70621;WI-17839 KAR;SDR12C1 17-beta-HSD 12;17-beta-hydroxysteroid dehydrogenase 12;17beta-HSD type 12;3-ketoacyl-CoA reductase;OTTHUMP00000232808;estradiol 17-beta-dehydrogenase 12;short chain dehydrogenase/reductase family 12C, member 1;steroid dehydrogenase homolog APPROVED protein-coding ENSG00000149084 HGNC:18646 09989 609574 VALIDATED 1344400 HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008] 9 9 9 q22 69439150 69506013 - 98997588 99064662 - 96235306 96302302 - 1599964;1580863;4889108;4889107;2325883;6480464;6907045;7240710;8554872;8699517 18180323;18481435;18821018;8075637 11158067;12210481;12477932;14634838;15489334;15583024;15654505;16174723;17466011;17509588;18510611;19027726;19429456;19453261;19505920;19574343;19598235;20059664;20214802;20453000;20634197;20677014;20734064;22137341;22217844;22594312;23183177;23375913;23916922;23953348;24157973;2918056;598011;6310248;8550739;8626842;9467575;9709959;9758445 3293 P37058;Q6FH62 ABBA01043595;ABBA01043596;ABBA01043597;ABBA01043598;AL160269;AMYH02021290;AMYH02021291;AMYH02021292;AY341031;BC034281;BT019371;CH471174;CR541894;HC007028;NG_008157;NM_000197;U05659;XM_005251970;XM_006717094;XM_006717095 AAC50066;AAH34281;AAP88937;AAV38178;ABM82738;ABM85921;CAG46692;CBH19319;EAW92645;NP_000188;P37058;XP_005252027;XP_006717157;XP_006717158 Hs.477 1339755;1682055;1758543;1787182;1788518;1788520;1788522;1788524;1788526;1788528;2135913;2179620 023XH8;D9S1717;D9S1786;G67552;G67553;G67554;G67555;G67556;G67557;RH92210;SHGC-148737;SHGC-82489 EDH17B3;SDR12C2 17-beta-HSD 3;17-beta-HSD3;17-beta-hydroxysteroid dehydrogenase type 3;OTTHUMP00000021718;short chain dehydrogenase/reductase family 12C, member 2;testicular 17-beta-hydroxysteroid dehydrogenase;testosterone 17-beta-dehydrogenase 3 1643473 BW102_H APPROVED protein-coding ENSG00000130948 HGNC:5212 05716 264300;605573 REVIEWED 736216 HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1 ENCODES a protein that exhibits catalytic activity (inferred); estradiol 17-beta-dehydrogenase activity (inferred); oxidoreductase activity (inferred); INVOLVED IN bone development (inferred); cellular response to metal ion (inferred); estrogen biosynthetic process (inferred); PARTICIPATES IN estradiol biosynthetic pathway; steroid hormone biosynthetic pathway; ASSOCIATED WITH Breast Neoplasms; FOUND IN cytoplasm; nuclear membrane; nucleus; INTERACTS WITH 17beta-estradiol; 2,6-dibromophenol; 8-bromo-3',5'-cyclic AMP 17 17 17 q11-q21 37359920 37363168 + 40703984 40707232 + 42548357 42555214 + 1580863;1300048;4890946;4889549;6480464;2325883;6907045 10682658;15583024;18821018 10460007;10625652;11212283;12223444;12477932;12490543;12519880;12519881;12527905;12584742;1327779;14966133;14973105;15241822;15489334;15640252;15733111;16260521;16311626;16467490;16480815;16489054;16896040;16949391;16954436;16969494;17110639;17301695;17454161;17457667;17507624;17588204;17953976;18083510;18086758;18415690;18467089;18483327;18593984;18636124;18676680;18723074;18817841;18820009;18843021;18984855;19015200;19027726;19027824;19050176;19061935;19170196;19401349;19415745;19429442;19429452;19453261;19460752;19556422;19574343;19625176;19627379;19630952;19679043;19692168;19776291;1977681;19929851;20151319;20151320;20172961;20193327;20214802;20381444;20382160;20432167;20453000;20586553;20634197;20729390;20734064;21198743;21317201;21563966;21857977;2197970;22176788;22199302;22253796;22362820;22546946;22613790;22691413;2330005;23430226;23540283;23837683;23916544;24113171;2547159;2584224;2779584;2846351;4719204;5045524;6578212;7626483;7648200;7663947;8206323;8389226;8547176;8703123;8756321;8805577;8855807;9435439;9525918;9927655 3292 B4DU11;P14061 ABBA01006421;AC067852;AK127832;AK300143;AK300159;AK300452;AK316292;AMYH02033430;BC019592;BC033110;BC037415;BC104752;BC111935;BF112114;BQ575124;CH471152;DQ469954;M27138;M29037;M36263;M84472;NM_000413;U34879;X13440;XM_005257292;XM_006721857;XM_006721858;XM_006721859;XM_006721860;XR_429889 AAA35600;AAB16941;AAB16942;AAB17014;AAD05019;AAH33110;AAI04753;AAI11936;ABF13478;BAG54583;BAG61929;BAG61942;BAG62173;BAH14663;CAA31792;EAW60836;NP_000404;P14061;XP_005257349;XP_006721920;XP_006721921;XP_006721922;XP_006721923 Hs.654385;Hs.655222 1741391;1742295;1742609;1742611;1742613;1742615;1742617;1778258;2128139;2161024;2183579;5016596;5037552 D8S2279;GDB:180973;GDB:196131;GDB:198064;GDB:198065;GDB:198066;GDB:198067;GDB:198068;GDB:631802;RH69134;SGC34304;STS-AA037233;WI-14373 17-beta-HSD 1;20-alpha-HSD;E2DH;EDH17B2;EDHB17;HSD17;MGC138140;SDR28C1 17-beta-hydroxysteroid dehydrogenase type 1;20 alpha-hydroxysteroid dehydrogenase;estradiol 17-beta-dehydrogenase 1;estradiol 17-beta-dehydrogenase-1;hydroxysteroid (17-beta) dehydrogenase 1 isoform;hydroxysteroid 17-beta dehydrogenase 1;placental 17-beta-hydroxysteroid dehydrogenase;short chain dehydrogenase/reductase family 28CE, member 1 1643462;2289501;2289511 BW108_H;BW444_H;BW453_H protein-coding HGNC:5210 00185 109684 VALIDATED 1602229 HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6 The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013] 12 12 12 q13 56811056 56835545 + 57146237 57181574 + 56752453 56787790 + 6480464;6907045;8554872 10896656;11165032;11306067;11360992;11513953;12477932;16344560;17070195;17207965;17289849;19027726;19837928;20200332;20526338;21039282;22114194;22267201;24244276;9188497 8630 G3V3Y9;G3V508;O14756 AA934892;ABBA01008436;ABBA01008437;ABBA01008438;AC117378;AC121758;AF016509;AF223225;AI760144;AK313423;AMYH02026575;BC020710;CH471054;DA086202;NM_003725;U89281;XM_005269207;XM_005269208;XM_005269209;XM_006719672;XR_245961 AAB67236;AAB88252;AAF81017;AAH20710;ADQ32110;BAG36215;EAW96963;EAW96964;EAW96965;EAW96966;NP_003716;O14756;XP_005269264;XP_005269265;XP_005269266;XP_006719735 Hs.524513 2122792 STS-W72382 HSE;RODH;SDR9C6 17-beta-HSD 6;17-beta-HSD6;17-beta-hydroxysteroid dehydrogenase type 6;3(alpha->beta)-hydroxysteroid epimerase;3(alpha->beta)-hydroxysteroid epimerasel;3-alpha->beta-HSE;3-alpha->beta-hydroxysteroid epimerase;3-hydroxysteroid epimerase;NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase 3-hydroxysteroid epimerase;OTTHUMP00000244559;OTTHUMP00000244560;OTTHUMP00000244576;OTTHUMP00000244577;OTTHUMP00000244578;hydroxysteroid (17-beta) dehydrogenase 6 homolog;oxidative 3-alpha hydroxysteroid dehydrogenase;oxidative 3-alpha-hydroxysteroid-dehydrogenase;oxidoreductase;retinol dehydrogenase;short chain dehydrogenase/reductase family 9C, member 6 APPROVED protein-coding ENSG00000025423 HGNC:23316 09431 606623 REVIEWED 1342842 HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ortholog); 1,2,4-trimethylbenzene (ortholog) 4 4 4 q22.1 85513757 85532909 - 88224941 88244056 - 87303789 87322906 - 6480464 12477932;12975309;15221005;15489334;17311113;19027726;22001757;22139419;23568457;25028495 345275 Q7Z5P4 AB073347;ABBA01063531;ABBA01063532;AC108516;AK292784;AMYH02009669;AMYH02009670;AY186249;AY186250;AY268355;AY358575;BC112303;BC112305;CH471057;DR004209;NM_001136230;NM_178135 AAI12304;AAI12306;AAO72313;AAO72314;AAP42289;AAQ88938;ADR83118;BAD38632;BAF85473;EAX05985;EAX05986;NP_001129702;NP_835236;Q7Z5P4 Hs.284414 2219672;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;SCDR9__5552 HMFN0376;MGC138508;MGC138510;NIIL497;SCDR9;SDR16C3 17-beta hydroxysteroid dehydrogenase;17-beta-HSD 13;17-beta-hydroxysteroid dehydrogenase 13;OTTHUMP00000161177;OTTHUMP00000219650;short chain dehydrogenase/reductase family 16C, member 3;short-chain dehydrogenase/reductase 9 protein-coding ENSG00000170509 HGNC:18685 18023 612127 VALIDATED 1343605 HSD17B1P1 hydroxysteroid (17-beta) dehydrogenase 1 pseudogene 1 17 17 17 q21.2 37353732 37356929 + 40697797 40700993 + 42545779 42548975 + 2779584;8703123 643646 ABBA01006421;AC067852;AMYH02033430;NG_006749;U34879 1652422;1742461;1770313;1778258 GDB:197113;RH18065;STS-M29037;WI-14373 EDH17B1;EDHB17;HSD17;HSD17BP1;SDR28C1P1 APPROVED pseudo HGNC:5216 INFERRED 1349616 HSD17B7P1 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 1 1 1 1 q44 221282894 221284175 + 247990766 247992047 + 247827464 247828745 + 148818 ABBA01031793;AC099571;AJ297815;AMYH02003140;NG_001308 pseudo HGNC:18689 INFERRED 1347247 HSD17B7P2 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 10 10 10 p11.1 38416338 38425580 + 38645308 38667433 + 38356380 38378505 + 6480464 10544267;12477932;12732193;12829805;15862963;21906983 158160 Q9NRW6 ABBA01033282;AF165514;AF165517;AK293968;AK295332;AK307174;AL133216;AL133217;AMYH02022663;AY829267;BC071987;BM148133;NR_003086 AAF86644;AAF86647;AAV87307;BAG57340;BAG58306 Hs.652484 1788688 RH115827 FLJ40773;HSD17B7;Hsd17b_2;MGC88684;bA291L22.1 pseudo ENSG00000099251 HGNC:28120 14106 PROVISIONAL 1351353 HSD17B8 hydroxysteroid (17-beta) dehydrogenase 8 In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34726785 34728973 + 33172414 33174608 + 33204637 33206831 + 1580863;6480464;6907045 11076863;11165015;12136098;12477932;14574404;15489334;15489336;16381901;16930994;17583490;17978863;18794456;18852215;19027726;19343046;19571038;19851445;19913121;20214802;20587610;20628086;20877624;22145905;23740775;8812499;9205114;9712896 7923 Q92506 ABBA01038138;AJ328015;AL031228;AL645940;AL662824;AL713971;AL844527;AMYH02013481;AW025057;BC008185;BT007239;CH471081;CR759733;CR759786;CR847841;D82061;D84401;HY167181;NM_014234 AAH08185;AAP35903;BAA11529;CAC38444;CAL38385;EAX03682;NP_055049;Q92506 Hs.415058 1794594;2114924;2157964;2189413;2189729;2191707;2218010 M2_2_9;MARC_5283-5284:991939549:1;MARC_5413-5414:996690360:2;PMC321570P8;RH66534;SHGC-31083;SLC39A7_3898 17-beta-HSD 8;D6S2245E;FABG;FABGL;H2-KE6;HKE6;KE6;RING2;SDR30C1;dJ1033B10.9;ke-6 17-beta-hydroxysteroid dehydrogenase 8;3-oxoacyl-[acyl-carrier-protein] reductase;OTTHUMP00000029153;beta-ketoacyl-[acyl-carrier-protein] reductase-like;estradiol 17-beta-dehydrogenase 8;estrogen 17-oxidoreductase;really interesting new gene 2 protein;short chain dehydrogenase/reductase family 30C, member 1;testosterone 17-beta-dehydrogenase 8 APPROVED protein-coding ENSG00000204228 HGNC:3554 03248 601417 REVIEWED 1312097 HSD17B14 hydroxysteroid (17-beta) dehydrogenase 14 17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009] 19 19 19 q13.33 46184096 46207298 - 49316274 49339935 - 48813017 48836678 - 737633;1580863;6480464 12477932 10800688;12975309;15489334;16189514;17067289;17207965;18029348;19027726;19060904;22792371 51171 M0QY35;M0R147;M0R2R3;Q9BPX1 ABBA01032963;ABBA01032964;ABBA01032965;ABBA01032966;AC026803;AF126781;AK307437;AMYH02036311;AMYH02036312;AY358430;BC006283;BC006294;BI602824;CH471177;NM_016246;XM_005258969;XM_005258970;XR_243938 AAF06940;AAH06283;AAH06294;AAQ88796;ADQ32519;EAW52404;NP_057330;Q9BPX1;XP_005259026;XP_005259027 Hs.18788 1689229;1699262;1775928;2107519 L29754;PLEKHA4__6975;RH103213;RH91362 DHRS10;SDR47C1;retSDR3 17-beta-HSD 14;17-beta-hydroxysteroid dehydrogenase 14;17-beta-hydroxysteroid dehydrogenase DHRS10;dehydrogenase/reductase (SDR family) member 10;dehydrogenase/reductase SDR family member 10;retinal short-chain dehydrogenase/reductase 3;retinal short-chain dehydrogenase/reductase retSDR3;short chain dehydrogenase/reductase family 47C, member 1 APPROVED protein-coding ENSG00000087076 HGNC:23238 16801 612832 VALIDATED 1347893 HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ENCODES a protein that exhibits 3-beta-hydroxy-delta5-steroid dehydrogenase activity (ortholog); steroid delta-isomerase activity (ortholog); INVOLVED IN steroid biosynthetic process (ortholog); PARTICIPATES IN cortisol biosynthetic pathway; estradiol biosynthetic pathway; steroid hormone biosynthetic pathway; ASSOCIATED WITH Hypertension; Hyperprolactinemia (ortholog); FOUND IN mitochondrial inner membrane; mitochondrial intermembrane space; smooth endoplasmic reticulum membrane (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,4,6-trichlorophenol 1 1 1 p13.1 118280577 118288432 + 120049826 120057681 + 119507203 119515058 + 1580863;1626438;4889549;1599701;4889559;634234;6480464;6907045 12054649;15583024;16116051;8027581;8576131 10067877;10391209;10810285;11174850;11912155;12050213;12205101;12438565;12477932;12530651;12530676;12832414;1401999;14764797;15097232;15291746;15291757;15489334;15797861;16302261;1673569;1737804;17507624;17589376;17624763;17627014;17689071;17826523;18223326;18281655;18524572;18636124;18676680;18723074;18778748;18955108;19027726;19148546;19170196;19197249;1920284;19336370;19414525;19429456;1944309;19453261;19505920;19574343;19625176;19692168;19913121;20056642;20086173;20184498;20214802;20420909;20453000;20628086;20634197;20660004;2066113;20729390;20734064;2082186;20877624;2139411;21631238;21932034;2243100;22638611;22673022;23122578;23318910;23859711;23993097;24006038;24157973;2770297;2779585;7673125;8043598;8274411;8908375 3283 E9PRN7;P14060 ABBA01068514;AK291556;AL121995;AL544564;AMYH02001816;BC031999;CH471122;HC007030;M27137;M28392;M35493;M38180;M63397;NM_000862;S45679;X53321;X55997 AAA36001;AAA36015;AAA51538;AAA51662;AAA51831;AAB23543;AAH31999;ABM82087;ABM85268;BAF84245;CAA37408;CAA39469;CBH19320;EAW56703;EAW56704;NP_000853;P14060 Hs.364941 1670304;1677152;1741137;1741749;1797714;2136513;2173929;2181187;5020961 D1S2396;D1S3292;GDB:178350;GDB:182602;HSD3B;HSD3B1__1178;RH28;SHGC-75403;SHGC-75404 3BETAHSD;HSD3B;HSDB3;HSDB3A;I;SDR11E1 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1;3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I;3-beta-HSD I;3-beta-hydroxy-5-ene steroid dehydrogenase;3-beta-hydroxy-Delta(5)-steroid dehydrogenase;OTTHUMP00000014488;OTTHUMP00000234748;delta-5-3-ketosteroid isomerase;hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 1;progesterone reductase;short chain dehydrogenase/reductase family 11E, member 1;steroid Delta-isomerase;trophoblast antigen FDO161G 1643449 BW98_H protein-coding ENSG00000203857 HGNC:5217 04920 109715 VALIDATED 734010 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 16 16 16 p11.2 29296983 29300937 - 30995949 31000473 + 30984668 30989152 + 737780;1599971;6480464;6907045;7240710;8554872;8699517 11067870;12679481 12477932;14702039;15489334;16341674;16344560;19027726;20531254;21044367;21906983;21988832;22095780;23088713 80270 I3L2H6;I3L2Q9;Q9H2F3 ABBA01042073;AC135048;AF277719;AK057436;AK290950;AK292068;AMYH02031838;BC004929;BM744211;CA413388;CH471192;DB336146;NG_012346;NM_001142777;NM_001142778;NM_025193;XM_005255601 AAG37824;AAH04929;ABW03858;ABW03859;BAB71486;BAF83639;BAF84757;EAW52183;NP_001136249;NP_001136250;NP_079469;Q9H2F3;XP_005255658 Hs.460618 1678255;1684435;1685219;1793862 PMC301421P1;RH12292;RH70099;RH78319 CBAS1;PFIC4;SDR11E3 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase;3 beta-hydroxysteroid dehydrogenase type 7;3 beta-hydroxysteroid dehydrogenase type VII;3-beta-HSD VII;3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase;C(27)-3BETA-HSD;OTTHUMP00000163254;c(27) 3-beta-HSD;cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase;short chain dehydrogenase/reductase family 11E, member 3 APPROVED protein-coding ENSG00000099377 HGNC:18324 09680 607764;607765 REVIEWED 731284 HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] 5 5 5 q21 114741869 114831759 + 118788138 118878030 + 119452443 119542335 + 1599968;1580863;1300048;6480464;6907045;7240710;8554872;8699517 9345094 10199776;10343282;10400999;10402265;10419023;11700068;11743515;11964182;11992265;12477932;14702039;15489334;15599942;15635413;15644212;16196087;16210410;16344560;16385454;16756494;16766224;17220478;17893145;18029348;18086758;18281655;18415690;18676680;18781797;18794456;19027726;19100308;19170196;19380743;19453261;19574343;19598235;19625176;19627379;19692168;19776291;19913121;20178365;20214802;20453000;20562859;20566640;20628086;20634197;20673864;20734064;20877624;20949532;21139048;21525035;21988832;22002062;22265031;22623531;22751105;22939629;23000965;2303409;23125841;23181892;23308274;23313254;23798571;23874603;24163370;24250222;24501781;24583282;24816145;25027693;25254289;2921319;7487879;8279468;8547189;8902629;8938456;9089413;9133619;9197465;9482850;9783542;9880674;9915948 3295 B2R659;E7EPL9;E7ER27;E7ET17;E7EWE5;G5E9S2;P51659 ABBA01068976;AC024564;AF057720;AF057721;AF057722;AF057723;AF057724;AF057725;AF057726;AF057727;AF057728;AF057729;AF057730;AF057731;AF057732;AF057733;AF057735;AF057736;AF057737;AF057738;AF057739;AF057740;AK094049;AK293254;AK295440;AK298075;AK299685;AK301212;AK308968;AK312449;AL713635;AMYH02012057;AMYH02012058;AMYH02012059;AU105854;BC003098;CB067275;CH471086;CX782401;DA296575;DA426062;DA508630;DC325873;NG_008182;NM_000414;NM_001199291;NM_001199292;NM_001292027;NM_001292028;X87176;Y11393 AAD08652;AAH03098;ABM82792;ABM85981;BAG35356;BAG52804;BAG56786;BAG58380;BAG60363;BAG61592;BAG62787;CAA60643;CAA72203;EAW48910;EAW48911;NP_000405;NP_001186220;NP_001186221;NP_001278956;NP_001278957;P51659 Hs.406861 1339573;1664769;1797712;2132612;2132614;2179611;5109681 A001X47;D5S1384;D8S1438E;G19767;HSD17B4_2652;STS-X87176;WI-11223 DBP;MFE-2;MPF-2;PRLTS1;SDR8C1 17-beta-HSD 4;17-beta-HSD IV;17-beta-hydroxysteroid dehydrogenase 4;17beta-estradiol dehydrogenase type IV;3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase;D-3-hydroxyacyl-CoA dehydratase;D-bifunctional protein, peroxisomal;OTTHUMP00000159141;OTTHUMP00000222964;OTTHUMP00000222965;OTTHUMP00000222966;OTTHUMP00000222967;OTTHUMP00000222969;OTTHUMP00000236920;beta-hydroxyacyl dehydrogenase;beta-keto-reductase;multifunctional protein 2;peroxisomal multifunctional enzyme type 2;peroxisomal multifunctional enzyme type ii;peroxisomal multifunctional protein 2;short chain dehydrogenase/reductase family 8C, member 1 1643508 BW262_H APPROVED protein-coding ENSG00000133835 HGNC:5213 03514 233400;261515;601860 REVIEWED 1343430 HSD3BP2 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 2 1 1 1 p13.1 118211935 118219887 + 119981151 119989129 + 119438528 119446506 + 10552929;7588414 440606 ABBA01068514;AL359553;AMYH02001816;NG_005676;S80140 AAD14329 1797714;2149441 AL009745;HSD3B1__1178 pseudo HGNC:5220 INFERRED 1343192 HSD3BP5 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 5 INTERACTS WITH aflatoxin B1 1 1 1 p13.1 118374611 118382807 + 120143876 120152072 + 119601253 119609449 + 6480464 10552929 391081 ABBA01068516;AL109966;AMYH02001817;NG_022803 pseudo HGNC:5223 INFERRED 735953 HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7 HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010] 1 1 1 q23 135864558 135886965 + 162760496 162782608 + 162790706 162812818 + 1580863;1300048;6480464;6907045 10419022;10544267;11969204;12477932;12732193;12829805;12975309;14702039;15489334;15862973;16356630;16901934;17454161;17498944;18660489;19019335;19027726;19429442;19460435;19536175;19735314;20140262;20214802;20215536;21086175;21103663;21139048;21372145;21890473;21906983;21988832;23000965;23300627;24816145;3855619 51478 F2Z2C2;P56937;Q5T248;Q5T249;V9GYN3 ABBA01047303;AF098786;AF145023;AF162759;AF162760;AF162761;AF162762;AF162763;AF162764;AF162765;AF162766;AF162767;AJ249179;AJ250550;AK022929;AK290741;AL392003;AL445197;AMYH02002043;AY358962;BC007068;BC065246;BT007075;CH471067;NM_016371;XM_006711380 AAF09266;AAF14537;AAH07068;AAH65246;AAP35738;AAP97275;AAQ89321;ACT64500;ACT64501;BAB14312;BAF83430;CAC20418;CAC88111;EAW90716;EAW90720;NP_057455;P56937;XP_006711443 Hs.492925 1788688;5022322 D11S2560;RH115827 MGC12523;MGC75018;PRAP;SDR37C1 17 beta-hydroxysteroid dehydrogenase type VII;17-beta-HSD 7;17-beta-hydroxysteroid dehydrogenase 7;17beta hydroxysteroid dehydrogenase;3-keto-steroid reductase;OTTHUMP00000032328;estradiol 17-beta-dehydrogenase 7;short chain dehydrogenase/reductase family 37C, member 1 APPROVED protein-coding HGNC:5215 05996 606756 VALIDATED 1352915 HSD3BP1 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 1 1 1 1 p13.3 118240592 118247176 + 120009838 120016423 + 119467215 119473800 + 10552929 391076 ABBA01068514;AL359553;AMYH02001816;NG_022802 pseudo HGNC:5219 INFERRED 1350891 HSD3BP4 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4 1 1 1 p13.1 118337236 118345931 + 120106503 120115199 + 119563880 119572576 + 10552929;7588414;7603471 128102 Q99889 ABBA01068515;AF252254;AL109966;AMYH02001816;NR_033781;S80139 AAD14328;AAM08704 Hs.681806 5020961 HSD3B pseudo HGNC:5222 VALIDATED 1318588 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] 1 1 1 p13.1 118188369 118196423 + 119957554 119965662 + 119414931 119423039 + 1625114;1625113;1580863;4761326;4888511;4889108;4889549;4889596;4833436;4889527;4889107;4145934;2325883;632873;634234;6480464;6907045;7240710;8554872;8699517 11739466;12648755;14764821;15583024;17244746;17880366;18180323;18481435;18821018;19228890;19698287;2149342;8284113;8576131 10599696;10651755;10843183;11287026;11912155;12050213;12205101;12477932;12530651;1363812;14671206;14764797;15131259;15208301;15342556;15489334;15498889;15585552;15615861;15767343;15928316;16648810;16710414;16846535;17220347;17255364;1741954;17507624;17589376;17689071;17823934;18000308;18252794;18505908;18524572;18636124;18676680;18778748;19022561;19027726;19059462;19158234;19170196;19414525;1944309;19453261;19505920;19574343;19625176;19692168;19913121;20453000;20628086;20634197;20660004;2066113;20734064;21185375;21930695;22106846;22262841;22356824;2243100;22638611;23026940;23257735;23284679;23450050;24006038;24244276;295036;7608265;7633426;7633460;7833923;7893703;7962268;8060486;8125298;8126127;8185809;8316254;8943802;9719627 3284 P26439;Q5QP01 ABBA01068514;AK222997;AK313413;AL359553;AMYH02001816;AV705363;BC038419;BC131488;BP197992;CF596786;CH471122;M67466;M77144;NG_013349;NM_000198;NM_001166120;S60309;S60310 AAA36014;AAA36016;AAC60599;AAC60600;AAH38419;AAI31489;ABM82690;ABM85874;BAD96717;BAG36207;EAW56700;EAW56701;EAW56702;NP_000189;NP_001159592;P26439 Hs.654399 1743137;1761371;1768951;1857979;5020961 GDB:270565;HSD3B;SGC35274;SHGC-145388;SHGC-75401 HSD3B;HSDB;SDR11E2 3 beta-HSD type II;3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II;3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2;3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II;3-beta-HSD II;3-beta-HSD adrenal and gonadal type;3-beta-hydroxy-5-ene steroid dehydrogenase;3-beta-hydroxy-Delta(5)-steroid dehydrogenase;OTTHUMP00000014489;OTTHUMP00000014490;delta 5-delta 4-isomerase type II;progesterone reductase;short chain dehydrogenase/reductase family 11E, member 2 1643449 BW98_H APPROVED protein-coding ENSG00000203859 HGNC:5218 01941 201810;613890 REVIEWED 1348084 HSD3BP3 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 3 1 1 1 p13.1 118311855 118319443 + 120081132 120088711 + 119538509 119546088 + 10552929 441900 ABBA01068514;AL121995;AMYH02001816;NG_027848 2125223 AL009778 pseudo HGNC:5221 INFERRED 1354077 HSDL1 hydroxysteroid dehydrogenase like 1 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; arsenous acid 16 16 16 q23.3 68457660 68480593 - 84155744 84178800 - 84122139 84145195 - 6480464 12153137;12477932;14702039;17353931;19026618;19027726;20877624;21139048;21890473;21906983;21963094;23000965;24250222;8125298 83693 H3BNH5;H3BQI7;H3BT52;I6L975;Q3SXM5 ABBA01016918;ABBA01016919;ABBA01016920;AC040169;AF237684;AK025626;AK074878;AK098199;AK299798;AMYH02032561;AX392116;AX392118;AY028377;BC018084;BC104218;BC104219;BC106917;CH471114;CQ782843;DB525323;DC306668;H40440;NM_001146051;NM_031463;XM_005256189 AAH18084;AAI04219;AAI04220;AAI06918;AAK15047;AAK16927;BAC11262;BAG61674;CAD28991;CAD28992;CAF86070;EAW95502;EAW95503;EAW95504;NP_001139523;NP_113651;Q3SXM5;XP_005256246 Hs.555992 2123294;2175981;2182133 SHGC-36075;SHGC-60738;SHGC-60843 MGC125994;MGC125995;MGC126032;SDR12C3 OTTHUMP00000174987;inactive hydroxysteroid dehydrogenase-like protein 1;short chain dehydrogenase/reductase family 12C, member 3;steroid dehydrogenase-like protein protein-coding ENSG00000103160 HGNC:16475 17117 VALIDATED 1349418 HSF2BP heat shock transcription factor 2 binding protein HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30055601 30185204 - 44949066 45079380 - 43529186 43659493 - 1580863;6480464;8554872 10830953;12477932;15231747;15489334;16780588;17709345;20379614;21675959;21900206;9651507 11077 C9JSF2;O75031;Q6IAT7 AB007131;ABBA01074123;ABBA01074124;ABBA01074125;ABBA01074126;ABBA01074127;ABBA01074128;ABBA01074129;ABBA01074130;ABBA01074131;AK301795;AK314121;AMYH02037896;AMYH02037897;AP001050;AP001051;AP001052;AP001751;AP001752;BC000153;CH471079;CR457067;KF510129;NG_011491;NM_007031;XM_005261090 AAH00153;ABZ92301;BAA31967;BAA95537;BAA95539;BAG36812;BAG63248;CAG33348;EAX09485;EAX09486;NP_008962;O75031;XP_005261147 Hs.406157 1684375;1790605;2126683;2126823;2156356;2176313;2220456 067XD7;D21S1988;G34630;RH92007;STS_CEB241;UniSTS:482788;UniSTS:494853 OTTHUMP00000109450;OTTHUMP00000109451;heat shock factor 2-binding protein APPROVED protein-coding ENSG00000160207 HGNC:5226 05186 604554 REVIEWED 1604244 HSF5 heat shock transcription factor family member 5 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH zinc atom; zinc(0); ethanol (ortholog) 17 17 17 q22 52959318 53027557 - 56497528 56565759 - 58420168 58488398 - 6480464;8554872 12477932;25036637 124535 Q4G112 ABBA01041335;ABBA01041336;ABBA01041337;AC005666;AC023992;AL137385;AMYH02033688;AMYH02033689;BC033017;BC033020;BC115385;BC115386;BI459434;HC007032;KF456294;NM_001080439 AAH33017;AAH33020;AAI15386;AAI15387;CBH19321;NP_001073908;Q4G112 Hs.380061 1680369;1693840;1728991;1740027;1794010;2108269;2121331;2145864;5127473 AA596759;D17S1363E;D17S1780;G06215;G42608;MTMR4_8899;PMC310730P1;RH98431;STS-H68355 FLJ40311;HSF 5;HSTF 5;MGC134827 heat shock factor protein 5;heat shock transcription factor 5 protein-coding ENSG00000176160 HGNC:26862 VALIDATED 1605081 HSFX1 heat shock transcription factor family, X linked 1 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus; INTERACTS WITH PhIP X X q28 148855726 148858517 + 149774068 149776859 + 6480464 11181995;11256614;12477932;15044259;15489334;16713569;20388717;25036637 100506164 Q9UBD0 AC016939;AC232272;AC244098;AF139980;AF139981;AK310305;BC021706;CH471169;NM_016153 AAD45879;AAD45880;AAH21706;ABM84571;ABW03316;EAW99371;NP_057237;Q9UBD0 Hs.656936;Hs.709146 1671528;1850278;5017913 RH11223;TMEM185A;WI-12227 FLJ17347;HSFX2;LW-1;MGC26102 OTTHUMP00000024213;heat shock transcription factor, X-linked protein-coding ENSG00000171116 HGNC:29603 VALIDATED 68578 HSF2 heat shock transcription factor 2 The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 6 6 6 q22.31 123464983 123498552 + 122720696 122754264 + 122399551 122433119 + 1580863;6480464;8554872 10224043;10561509;11278381;11795475;12477932;12813038;12865437;14574404;14699143;15489334;15662014;16344560;16428449;1717345;17213196;17688198;17915561;18029348;18211895;18570919;1871106;18978678;19017645;19129477;19471022;19768582;20360068;20379614;20937767;21139048;21258402;21693764;21792930;21890473;21906983;23000965;23064888;23959860;24250222;24619424;25027693;25036637;8125298;8339932;9118008;9367915;9651507 3298 Q03933;Q9BS48;V9GZ44 ABBA01025985;AK225593;AK225594;AK294624;AK316377;AL121954;AMYH02014409;BC005329;BC064622;BC112323;BC121050;BC121051;BC128420;CH471051;CS542427;DA741774;DQ492684;KF458264;M65217;NG_029607;NM_001135564;NM_001243094;NM_004506;Z99129 AAA36017;AAH05329;AAH64622;AAI12324;AAI21051;AAI21052;AAI28421;ABF47087;ABZ92426;BAG57805;BAH14748;CAM91163;EAW48174;EAW48175;EAW48176;EAW48177;NP_001129036;NP_001230023;NP_004497;Q03933 Hs.158195 1643752;1694174;2167311;2170196;2217452 AL008748;D6S1429;D6S2058;HSF2_3997;STS-M65217 HSF 2;HSTF 2;MGC117376;MGC156196;MGC75048 OTTHUMP00000017845;heat shock factor 2;heat shock factor protein 2 APPROVED protein-coding ENSG00000025156 HGNC:5225 00779 140581 REVIEWED 1350650 HSDL2 hydroxysteroid dehydrogenase like 2 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN membrane; peroxisome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4',5-pentachlorobiphenyl 9 9 9 q32 85641314 85733588 + 115142189 115234685 + 112379909 112472405 + 1580863;6480464 12477932;12834046;14702039;16344560;16501878;18369455;19027726;19703561;19946888;20583170;20877624;21139048;21890473;22002062;22082156;22268729;23798571;24244333;24250222;25027693;8125298 84263 B4DWC7;B4E136;Q6YN16 ABBA01042699;ABBA01042700;ABBA01042701;ABBA01042702;ABBA01042703;ABBA01042704;ABBA01042705;AK090940;AK098721;AK225946;AK289929;AK292486;AK301469;AK303645;AK313605;AL162732;AL833735;AMYH02021486;AY093428;BC004331;BC036620;BC047074;BC095451;CH471105;DB052480;HH961796;KF458939;NM_001195822;NM_032303;NR_036651;XM_006717303 AAH04331;AAH95451;AAM14670;BAF82618;BAF85175;BAG36370;BAG62989;BAG64648;CAH56256;CBX51371;EAW59104;EAW59105;EAW59106;EAW59107;NP_001182751;NP_115679;Q6YN16;XP_006717366 Hs.59486 1735870;1855948;2123705;2160220;2162237 A004Y48;D9S2084;D9S996E;RH45928;SHGC-58384 C9orf99;FLJ25855;MGC10940;SDR13C1 OTTHUMP00000021934;OTTHUMP00000021935;hydroxysteroid dehydrogenase-like protein 2;short chain dehydrogenase/reductase family 13C, member 1 protein-coding ENSG00000119471 HGNC:18572 13679 VALIDATED 1342854 HSFY1P1 heat shock transcription factor, Y-linked 1 pseudogene 1 22 22 22 930637 932499 + 17308364 17310225 + 16827474 16829335 + 11381032 27437 ABBA01001462;AC007064;AMYH02037983;AY026053;NR_003607 Hs.143955 CECR8;HSFYL1;HSFYP1;NCRNA00016 APPROVED pseudo ENSG00000229027 HGNC:1846 PROVISIONAL 1348679 HSFY2 heat shock transcription factor, Y linked 2 This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Y Y Y q11.222 6839462 6881754 + 20893326 20935621 - 18731440 18773735 - 737633 12477932 12815422;14702039;14985478;15044259;15489334;25036637 159119 Q96LI6 ABBA01073681;ABBA01073682;AC007379;AK058182;NG_004636;NM_001001877;NM_153716;NR_003509;XM_005262508 AAI48446;AAI53036;ADR83170;BAB71706;NP_001001877;NP_714927;Q96LI6;XP_005262565 Hs.592255 1662640;1676142;2113594;2169195;2188625;5115872;5116100;5116102;5116106 DYS208;DYS209;G66365;RH93149;sY1119;sY1237;sY1946;sY1947;sY1949 FLJ25453;HSF2L;HSFY;HSFY1 HSF2-like;OTTHUMP00000038974;OTTHUMP00000038975;heat shock transcription factor 2-like protein;heat shock transcription factor, Y-linked APPROVED protein-coding ENSG00000169953;ENSG00000279079 HGNC:23950 13680 REVIEWED 2311617 HSFY3P heat shock transcription factor, Y-linked 3, pseudogene X Y Y p11.31 88938794 88940968 - 2749606 2751780 - 2881565 2883739 - 9847074 442479 ABBA01069758;AC006040;NG_012371 HSFYP2 APPROVED pseudo HGNC:37119 INFERRED 2802462 HSFY4P heat shock transcription factor, Y-linked 4, pseudogene Y Y Y q11.223 7677613 7712425 - 22970662 23005474 - 20808776 20843588 - 9847074 643987 ABBA01057478;ABBA01057479;ABBA01057480;ABBA01057481;ABBA01057482;ABBA01057483;AC009494;NG_016562 1697698;2189021 G65893;RH102365 pseudo HGNC:37721 INFERRED 1625803 HSFX2 heat shock transcription factor family, X linked 2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus X X q28 148674172 148676974 - 149592512 149595310 - 11256614;12477932;15044259;15489334;23094017;25036637 100130086 Q9UBD0 ABBA01049646;AC016940;AC233288;AC244197;AF139980;AF139982;AK310305;BC021706;NM_001164415 AAD45879;AAD45880;AAH21706;NP_001157887;Q9UBD0 Hs.656936;Hs.709146 1671528;1744949;1751105;1760459;1775339;1850278;2140637;2169432;5017913 A006O30;GDB:581735;RH11223;RH15882;SGC35635;SHGC-105011;SHGC-143094;TMEM185A;WI-12227 FLJ17347;HSFX1;MGC26102 OTTHUMP00000226741;heat shock transcription factor, X-linked protein-coding HGNC:32701 VALIDATED 1347187 HSN2 hereditary sensory neuropathy, type II This intronless gene is poorly expressed and lies within an intron of WNK1 gene (GeneID:65125) on chr 12. Mutations in this gene are associated with hereditary sensory and autonomic neuropathy, type II, an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. It is proposed that this gene product may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells. [provided by RefSeq] p13.3 1303985;7240710 15060842 12477932;15455397;15911806;16534117;16541075;16713569;18521183;19651702;4351257;8889549 378465 AC004765;BC130467;BC130469;BJ997509;BK004108;N57692;NG_007984;NM_213655 AAI30468;AAI30470;DAA04494;NP_998820;Q6IFS5 Hs.656067;Hs.701055 HSAN2 protein-coding HGNC:23152 10553 201300;614492 1321924 HSF4 heat shock transcription factor 4 Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. [provided by RefSeq, Jul 2008] 16 16 16 q21 51705531 51712092 + 67197288 67203848 + 67163385 67169945 + 1599774;1580863;6480464;7240710;8554872;8699517 12089525 10488131;10737800;12477932;15277496;15308659;15959809;16147992;16341674;16344560;16552721;16581800;16876512;18941546;19014451;19913121;20564821;20628086;20670914;21098080;21258402;21792930;21900206;22103961;22587838;23264262;23329665;23507146;24045990;24250222;25036637;8125298;8972228 3299 E5RG51;E5RHY0;E5RJV4;E5RK26;E7EWW4;H0YAR7;H0YAU2;H0YBG9;H0YBS6;H0YBT7;H0YC14;H0YC39;Q9ULV5 AB029347;AB029348;ABBA01025431;ABBA01025432;AC074143;AK225152;AK293631;AK296210;AK307211;AK308638;AMYH02032225;BC130383;BG980713;BI001524;BM768246;BM805441;BX348481;CA412687;CH471092;D87673;DA111974;DA372008;NG_009294;NM_001040667;NM_001538 AAI46447;AAI53062;BAA13433;BAA84581;BAA84582;BAG57087;BAG58936;EAW83083;EAW83084;EAW83085;EAW83086;NP_001035757;NP_001529;Q9ULV5 Hs.512156;Hs.710714 CTM;CTRCT5;HSF 4;HSTF 4;hHSF4 OTTHUMP00000224686;OTTHUMP00000224689;OTTHUMP00000224691;OTTHUMP00000224692;OTTHUMP00000224693;OTTHUMP00000224694;heat shock factor protein 4 APPROVED protein-coding ENSG00000102878 HGNC:5227 03896 116800;602438 REVIEWED 730995 HSF1 heat shock transcription factor 1 The product of this gene is a heat-shock transcription factor. Transcription of heat-shock genes is rapidly induced after temperature stress. Hsp90, by itself and/or associated with multichaperone complexes, is a major repressor of this gene. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 141707360 141713153 + 145515270 145538385 + 144291588 144314722 + 1580863;6480464 10561509;10747973;10821850;10867642;11005381;11162511;11447121;11486022;11527157;11583998;11801594;11820785;11851405;11877455;11994473;12468538;12477932;12621024;12646186;12659875;12665592;12813038;12865437;12878154;12917326;14532117;14699143;14702039;14707147;14751250;14766217;14960326;15016915;15081420;15152009;15302935;15358168;15364926;15457556;15489334;15576338;15661742;15702990;15760475;15777846;16051598;16169070;16278218;1628823;16293251;16303760;16344560;16382149;16428449;16525201;16624816;16678833;17081983;17213196;17216044;17244614;17273789;17622316;17873279;17884799;17889646;17897941;17922035;18029348;18059335;18211895;18286539;18398426;18451878;18457423;18474607;18657505;18682744;1871105;1871106;18725048;18794143;18813348;19097133;19129477;19221897;19229036;19335068;19338268;19401454;19471022;19486883;19517141;19597476;19609719;19668225;19684601;19758120;19793920;19817876;19844581;20152833;20176657;20185824;20198330;20353823;20360068;20396959;20459615;20630999;20834230;20885985;20941531;21044828;21078672;21079652;21085490;21098017;21139048;21155232;21253609;21266308;21299508;21330448;21353370;21361146;21459854;21480956;21557666;21693764;21784850;21879256;21883218;21890473;21988832;22009757;22018489;22042860;22094256;22266185;22347460;22367781;22443056;22510478;22768106;22863008;22863883;22939629;22940245;22945628;22981541;23000965;23022381;23121022;23180277;23192351;23252346;23264262;23321918;23344957;23349863;23386620;23388456;23510323;23511056;23542779;23587601;23587726;23733891;23824909;23861773;23869022;23902341;23959823;23959860;24002609;24123326;24126052;24130164;24165036;24250222;24256636;24361604;24384723;24478344;24504023;24516381;24581496;24619424;24726381;24816145;25027693;25036637;7639722;8125298;8856972;8926278;8940068;9155018;9222609;9325337;9359875;9499401;9649501;9699716;9727490;9880553 3297 E9PI02;E9PMQ6;Q00613 ABBA01005216;AC110280;AC142402;AC233992;AF205589;AF299094;AK054762;AK125467;AK126580;AK222497;AK290975;AK300205;AMYH02018998;AMYH02018999;BC014638;BT007351;CH471162;CS542425;DA481620;M64673;NM_005526;XM_005272315;XM_005272316;XM_005272317;XR_246618 AAA52695;AAG23698;AAH14638;AAP36015;ABM84785;BAD96217;BAF83664;BAG51421;BAG54202;BAG61976;CAM91162;EAW82131;NP_005517;Q00613;XP_005272372;XP_005272373;XP_005272374 Hs.530227 1679033;1733652;1771432;2151105 D15S621E;HSC2HB072;RH79683;STS-M64673 HSF 1;HSTF 1;HSTF1 OTTHUMP00000228553;OTTHUMP00000228555;heat shock factor protein 1 APPROVED protein-coding ENSG00000185122 HGNC:5224 00778 140580 REVIEWED 1316342 HSP90AA2P heat shock protein 90kDa alpha (cytosolic), class A member 2, pseudogene HSP90 proteins are highly conserved molecular chaperones that have key roles in signal transduction, protein folding, protein degradation, and morphologic evolution. HSP90 proteins normally associate with other cochaperones and play important roles in folding newly synthesized proteins or stabilizing and refolding denatured proteins after stress. HSP90AA2 is a cytosolic HSP90 protein. Other HSP90 proteins are found in endoplasmic reticulum (HSP90B1; MIM 191175) and mitochondria (TRAP1; MIM 606219) (Chen et al., 2005 [PubMed 16269234]). See HSP90AA1 (MIM 140571) for further information on HSP90 proteins.[supplied by OMIM, Aug 2008] 11 11 11 p14.1 28055621 28058542 - 27909718 27912639 - 27888171 27891092 - 1580863;6480464 14743216;15146192;16269234;1740332;17643375;17724475;18559531;18798074;19091746;19130193;19234166;19383717;20170530;20558142;20694586;20937816;21127066;21145461;21519806;21906983;22552610;22753480;22935040;22939629;23589305;2591742 3324 Q14568 ABBA01060964;AC103796;AMYH02024509;M30627;NG_005856 AAA36024;Q14568 Hs.523560 1688714;1742703;2145219;2219148 D3S4173;GDB:201870;HSPCAL3__6605;RH78019 HSP90ALPHA;HSPCA;HSPCAL3 heat shock 90kda protein 1, alpha-like 3 APPROVED pseudo HGNC:5256 140575 INFERRED 1348889 HSP90AA4P heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene ENCODES a protein that exhibits ATP binding (inferred); unfolded protein binding (inferred); INVOLVED IN protein folding (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH copper(2+) sulfate; silver(1+) nitrate 4 4 4 q35.2 187687339 187689818 + 190394060 190397007 + 189472906 189475853 + 6480464 16269234;1740332;21853274;21906983;22178446;22863883;22939629;24816145;9847074 3323 Q58FG1 ABBA01070606;ABBA01070607;AC020698;AMYH02010727;AY956760;NG_003014 AAX38247;Q58FG1 Hs.553481 HSP90Ad;HSPCAL2 heat shock 90kda protein 1, alpha-like 2 APPROVED pseudo HGNC:5255 VALIDATED 1606064 HSP90AA6P heat shock protein 90kDa alpha (cytosolic), class A member 6, pseudogene INTERACTS WITH silver(1+) nitrate 4 4 4 q33 168833574 168857435 - 171525866 171535277 - 170604715 170614126 - 6480464 16269234 441051 Q58FF9 ABBA01070349;AC096571;AC096714;AMYH02010490;AY956762;NG_025183 AAX38249 Hs.729423 HSP90Af APPROVED pseudo HGNC:32536 INFERRED 1605779 HSP90AA5P heat shock protein 90kDa alpha (cytosolic), class A member 5, pseudogene ENCODES a protein that exhibits ATP binding (inferred); unfolded protein binding (inferred); INVOLVED IN protein folding (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH silver(1+) nitrate 3 3 3 q27.1 182275899 182278060 + 183833630 183835791 + 184115842 184118003 + 6480464 16269234;21906983;22360420;22939629;23251661 730211 Q58FG0 ABBA01058461;AC131235;AMYH02008301;AY956761;NG_005673 AAX38248;Q58FG0 Hs.581644 5113918 RH75563 HSP90Ae APPROVED pseudo HGNC:32535 INFERRED 1313876 HSH2D hematopoietic SH2 domain containing T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008] 19 19 19 p13.12 16146791 16171332 + 16244838 16269381 + 16134028 16158570 + 737633;1580863;6480464;8554872 12477932 11700021;12960172;14702039;15284240;15489334;16169852;19913121;20080636;20237496;20471366;20628086;21988832;24166736 84941 B4DT26;K7EP18;K7ER77;K7ES08;Q96JZ2 ABBA01051130;ABBA01051131;AC008894;AC020911;AK027792;AK131222;AK298682;AK300027;AK307563;AMYH02035669;AMYH02035670;AY319652;BC016826;BC025237;BF511682;CH471106;KF495722;NM_001291274;NM_032855;NR_111903;NR_111904 AAH16826;AAH25237;AAQ81285;ABM83091;ABM86285;BAB55372;BAD18408;BAG60845;BAG61838;EAW84528;EAW84529;EAW84530;EAW84531;EAW84532;NP_001278203;NP_116244;Q96JZ2 Hs.631617 1700032;2110691;2125414;2185812;5024039;5109281 D16S325;D1S1425;RAB8A_8465;RH103628;RH78768;SHGC-36999 ALX;FLJ14886;HSH2 adaptor in lymphocytes of unknown function X;hematopoietic SH2 domain-containing protein;hematopoietic SH2 protein APPROVED protein-coding ENSG00000196684 HGNC:24920 12219 608349 VALIDATED 1348010 HSP90AA3P heat shock protein 90kDa alpha (cytosolic), class A member 3, pseudogene 1 1 1 q23.1 131564446 131567313 + 158493403 158496270 + 158523613 158526480 + 16269234;1740332 3322 ABBA01016626;AL365440;AMYH02002003;NG_005218 HSPCAL1 heat shock 90kda protein 1, alpha-like 1 APPROVED pseudo HGNC:5254 INFERRED 1602950 HSP90AB2P heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene ENCODES a protein that exhibits ATP binding (inferred); unfolded protein binding (inferred); INVOLVED IN protein folding (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 3,3',5-triiodo-L-thyronine; cadmium atom; paracetamol 4 4 4 p15.33 13801251 13806138 + 13338022 13340549 + 13336387 13338931 + 6480464 16269234;16288044;16507910;20811636;21145461;21726808;21890473;21906983;22178446;22863883;22939629;23251661;23349634;24347629 391634 Q58FF8 ABBA01032543;AC006226;AMYH02008783;AY956763;NG_032979 AAX38250;Q58FF8 Hs.590925 5015509 WI-8585 HSP90BB APPROVED pseudo HGNC:32537 11811 INFERRED 1606854 HSP90AB5P heat shock protein 90kDa alpha (cytosolic), class B member 5, pseudogene INTERACTS WITH 17beta-estradiol 3 3 3 p13 74085842 74088288 + 74150457 74152975 + 74101347 74103828 + 6480464 16269234 442083 ABBA01030975;AC016930;AMYH02007074;AY956766;NG_005680 Hs.627167 HSP90BE APPROVED pseudo HGNC:32539 INFERRED 1323575 HSFY1 heat shock transcription factor, Y-linked 1 This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Y Y Y q11.222 6839479 6881754 + 20708574 20750849 + 18546688 18588963 + 12477932;12815422;14702039;14985478;15044259;15489334;20301513;22158087;22820855;23088713;24722188;25036637 86614 Q96LI6 AC022486;AF332226;AF332227;AJ566404;BC036567;BC055414;BC117380;BC117382;BX281920;CH471202;NG_004636;NG_012030;NM_033108;NM_152584;NR_003510;XM_005262565;XM_005262566 AAH36567;AAH55414;AAI17381;AAI17383;AAK13478;AAK13479;ABZ92078;ADZ15979;CAD98806;EAW54676;EAW54677;EAW54678;NP_149099;NP_689797;Q96LI6;XP_005262622;XP_005262623 Hs.662281 1662640;1676142;2113594;2169195;2188625;5115872;5116100;5116102;5116106 DYS208;DYS209;G66365;RH93149;sY1119;sY1237;sY1946;sY1947;sY1949 HSF2L;HSFY;HSFY2 HSF2-like;OTTHUMP00000038977;OTTHUMP00000038978;heat shock transcription factor 2-like protein;heat shock transcription factor, Y-linked APPROVED protein-coding ENSG00000172468;ENSG00000279680 HGNC:18568 11850 400029 REVIEWED 7176134 HSP90AB7P heat shock protein 90kDa alpha (cytosolic), class B member 7, pseudogene 10 10 10 p14 9692169 9694910 - 9763675 9766468 - 9721712 9724505 - 644495 ABBA01034709;AL157401;AMYH02022106;NG_022139 1753873 SHGC-108053 pseudo HGNC:44701 INFERRED 1348468 HSP90AB3P heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene ENCODES a protein that exhibits ATP binding (inferred); unfolded protein binding (inferred); INVOLVED IN protein folding (inferred); FOUND IN extracellular vesicular exosome 4 4 4 q22.1 86102606 86105129 + 88812911 88815434 + 87891748 87894288 + 16269234;19801982;21853274;21906983;22174851;22939629;23246001;24816145;8288256;9847074 3327 Q58FF7 ABBA01063539;AC093768;AMYH02009683;AY956764;NG_003015 AAX38251;Q58FF7 Hs.744112 1744327;2189467 GDB:451694;MARC_6805-6806:992007483:1 HSP90BC;HSPCP1 heat shock 90kda protein 1, beta pseudogene 1 APPROVED pseudo HGNC:5259 INFERRED 1602939 HSP90AB4P heat shock protein 90kDa alpha (cytosolic), class B member 4, pseudogene ENCODES a protein that exhibits ATP binding (inferred); unfolded protein binding (inferred); INVOLVED IN protein folding (inferred); FOUND IN cytoplasm (inferred) 15 15 15 q22.1 35871234 35873256 - 58982650 58985478 - 58690473 58693607 - 10737800;16269234;16344560;21139048;21906983;23349634 664618 Q58FF6 ABBA01038983;AC091046;AMYH02030532;AY956765;CV393081;DB113910;DB449567;NG_033876;NR_073415 AAX38252;Q58FF6 Hs.670224 5015509 WI-8585 HSP90Bd;HsHsp90Bd APPROVED pseudo HGNC:32538 VALIDATED 1351324 HSP90B3P heat shock protein 90kDa beta (Grp94), member 3, pseudogene 1 1 1 p22.1 90347253 90356020 + 92108073 92109898 + 91642516 91644341 + 15485837;16269234;20395239 343477 ABBA01045564;AC099334;AMYH02001465;AY956769;NG_032978 AAX38256 Hs.591435 1790367 TRA1 GRP94C;TRA1P2;TRAP2 APPROVED pseudo HGNC:12100 INFERRED 1346893 HSP90AB1 heat shock protein 90kDa alpha (cytosolic), class B member 1 This gene encodes a member of the heat shock protein 90 family; these proteins are involved in signal transduction, protein folding and degradation and morphological evolution. This gene encodes the constitutive form of the cytosolic 90 kDa heat-shock protein and is thought to play a role in gastric apoptosis and inflammation. Alternative splicing results in multiple transcript variants. Pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Dec 2012] 6 6 6 p12 45767994 45774759 + 44213903 44221625 + 44246166 44253888 + 1580863;2326084;4892102;5144125;5686868;5686803;5686383;6480464;6484113;6907045;7421504 14688203;16356826;16610357;18451092;19346995;21639837;21784126 10376793;10995457;11036079;11099500;11230166;11707401;11795466;12417652;12471035;12477932;12559950;14532285;14574404;14697242;14743216;15001580;15047060;15284248;15302935;15324660;15489334;15492215;15497503;15581363;15592455;15635413;15642353;15791211;15822905;15870294;15952740;16009940;16094384;16169070;16196087;16226712;16248461;16263121;16269234;16280321;16314389;16330544;16335966;16501598;16565220;16582619;16650407;16916647;16964243;17081065;17081983;17110338;17203973;17400507;17550899;17620599;17643375;17764690;17955473;17979178;18003639;18195352;18239673;18285346;18347946;18400751;18412542;18538669;18591256;18654987;18781797;18850735;19022436;19047110;19167051;19193609;19254810;19327008;19380486;19380743;19394292;19576239;19596686;19725029;19738201;19773279;19802386;19858214;19875381;19913121;19946888;19996089;19996313;20085233;20171186;20226818;20353823;20391533;20451655;20458337;20462248;20628086;20642453;20668552;20705598;20841485;20930503;20936779;20946244;21044950;21081666;21110914;21139048;21145461;21146485;21252943;21319273;21360678;21487019;21602280;21642987;21689689;21690293;21738476;21853274;21890473;21900206;21906983;21963094;21987572;21988832;22019372;22079093;22113938;22145905;22178446;22185817;22268729;22451720;22505724;22536838;22623428;22751105;22810585;22848402;22849407;22863883;22929401;22939629;22944692;22952844;23000965;23166591;23190606;23200770;23246001;23287597;23349634;23383273;23398456;23402259;23428871;23438482;23443559;23455922;23515950;23516526;23661493;23703321;23711381;23824909;23825951;23862649;23874603;23956138;24147044;24244333;24390425;24457600;24466266;24511009;24581495;24583282;24654937;24670792;2469626;24816145;24880080;2492519;25015289;25027693;25036637;2768249;3301534;7581991;7588731;8180474;9150948 3326 B4DGL0;P08238;Q5T9W8;Q6PK50 ABBA01050642;AF275719;AK025370;AK130494;AK290734;AK294643;AK297367;AK312255;AL136543;AL139392;AMYH02013657;AY359878;BC004928;BC007327;BC009206;BC012807;BC014485;BC016753;BC068474;BE539681;BG482327;BI252490;BQ028821;BX420114;BX649079;CD653541;CH471081;CX761569;D17804;DC340766;DC341882;DC350708;DC365600;DQ314872;J04988;M16660;NM_001271969;NM_001271970;NM_001271971;NM_001271972;NM_007355;XM_005249075 AAA36025;AAA36026;AAF82792;AAH04928;AAH07327;AAH09206;AAH12807;AAH14485;AAH16753;AAH68474;AAQ63401;ABC40731;ABM83950;ABM87267;BAA22050;BAB15121;BAF83423;BAG35187;BAG57821;BAG59814;CAB66478;EAX04257;EAX04258;EAX04259;EAX04260;NP_001258898;NP_001258899;NP_001258900;NP_001258901;NP_031381;P08238;XP_005249132 Hs.509736 1667810;1744327;2156602;2189467;5015509;5113533 A006I17;GDB:451694;MARC_6805-6806:992007483:1;RH65822;RH67971;WI-8585 D6S182;FLJ26984;HSP 84;HSP 90;HSP84;HSP90 beta;HSP90-BETA;HSP90B;HSPC2;HSPCB 90-kda heat shock protein beta;90-kda heat shock protein beta HSP90 beta;OTTHUMP00000016517;OTTHUMP00000016518;OTTHUMP00000016519;heat shock 84 kDa;heat shock 90kD protein 1, beta;heat shock protein HSP 90-beta;heat shock protein beta APPROVED protein-coding ENSG00000096384 HGNC:5258 06763 140572 REVIEWED 1323758 HSPA12B heat shock 70kD protein 12B The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 20 20 20 p13 3775245 3795643 + 3713317 3733758 + 3732670 3753111 + 1580863;6480464 11780052;12477932;12552099;12832005;14702039;15489334;17601350;18977241;19913121;20628086;22360420;22589738;23046810;23729663;7906708 116835 B4DLR4;B7ZLP2;Q5JX83;Q96MM6 ABBA01053828;AK056712;AK297120;AK301294;AL109804;AMYH02036602;AMYH02036603;BC090857;BC110881;BC117284;BC126263;BC143932;BF056643;CH471133;NM_001197327;NM_052970;XM_005260656;XM_005260657;XM_005260658 AAH90857;AAI10882;AAI17285;AAI26264;AAI43933;BAB71261;BAG59626;BAG62852;EAX10515;EAX10516;NP_001184256;NP_443202;Q96MM6;XP_005260713;XP_005260714;XP_005260715 Hs.516854 1768213 D14S1314 C20orf60;FLJ32150;MGC131912;dJ1009E24.2 OTTHUMP00000030119;OTTHUMP00000030120;heat shock 70 kDa protein 12B APPROVED protein-coding ENSG00000132622 HGNC:16193 13683 610702 REVIEWED 1347885 HSP90B2P heat shock protein 90kDa beta (Grp94), member 2, pseudogene ENCODES a protein that exhibits ATP binding (inferred); unfolded protein binding (inferred); INVOLVED IN protein folding (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog); 1H-pyrazole (ortholog) 15 15 15 q26.3 76216821 76219453 + 99797730 99800481 + 99257525 99260276 + 6480464 16269234;21906983;23383273 7190 Q58FF3 ABBA01020556;AC022819;AMYH02031152;AY956768;NR_073383;R13549 AAX38255;Q58FF3 Hs.656611 1682075;1774769;1790367;2142637;2191525 MARC_26038-26039:1032450563:1;RH67937;STS-H99801;STS-X15187;TRA1 GRP94P1;GRP94b;HSP;HSPCP2;HsGrp94b;TRA1P1;TRAP1 tumor rejection antigen (gp96) 1 pseudogene 1 APPROVED pseudo HGNC:12099 VALIDATED 1347335 HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 14 14 14 q32.33 82601564 82660582 - 102547075 102606086 - 102080738 102139749 - 2326084;4892102;5144125;5131489;5686823;5686847;5686396;6480464;6484113;6907045;7421504 16356826;16610357;18451092;19322027;19383083;19934406;21104931;21784126 10066374;10076566;10197982;10225950;10376793;10400612;10409742;10508479;10557093;10578053;10617616;10744744;10781589;10786835;10811660;10903152;10913161;10934467;10982807;10995457;11013261;11036079;11071886;11076968;11099500;11146632;11237709;11274138;11284722;11297531;11333259;11425855;11447118;11470816;11487543;11507088;11557750;11583998;11598136;11707406;11744239;11748628;11751878;11751892;11751894;11779851;11805120;11809754;11812147;11864612;11867521;11877417;11888936;11911945;11912194;11988487;12006493;12077419;12093808;12117999;12124224;12145316;12167617;12176997;12220519;12221128;12226087;12427754;12446770;12471035;12477932;12481031;12482202;12482853;12489981;12504007;12526792;12538866;12559950;12574167;12586360;12604615;12614460;12621024;12644583;12670868;12676772;12775586;12821935;12852856;12853476;12855682;12871950;12930902;12962497;1310678;1368637;1406681;14499622;14532270;14557268;14559896;14570880;14614132;14668798;14676191;14697242;14702039;14718169;14724288;14726529;14739935;14743216;14761955;15001356;15001357;15001580;15009113;15020715;15046863;15047060;15062560;15146192;15147973;15182205;15189447;15231747;15235609;15247219;1525041;15319539;15344906;15358769;15358771;15383005;1540595;15489334;15526284;15529360;15538384;15576338;15613472;15618521;15643424;15644312;15647277;15664193;15710247;15777846;15782121;15782129;15791211;15798097;15822905;15843522;15850399;15870294;15894266;15916966;15937123;15937340;15951401;15972449;16004603;16009940;16024644;16027165;16036220;16037132;16038408;16049054;16087666;16093354;16118214;16132836;16169070;16171778;16196087;16207813;16212417;16226712;16263121;16269234;16275660;16278218;16280321;16288044;16293251;16300468;16306228;16307917;16314389;16321986;16322212;16330544;16335966;16344560;16357216;16394098;16396496;16403413;16462731;16478993;16495214;16501598;16504566;16507982;16531226;16565516;16583711;16611982;16621797;16644868;16682002;16698020;16723087;16740632;16741950;16774932;16807684;16809764;16844778;16849543;16888650;16919237;16923571;16938294;16949366;16951198;16968706;17024179;17028174;17030621;17054904;17081065;17081983;17083915;17088927;17110338;17148781;17178836;17203973;17210713;17211576;17218278;17220478;17222799;17237281;17239458;17244529;17272822;17299090;17304350;17317785;17324930;17327415;17336451;17353003;17379601;17397257;17400507;1740332;17409432;17420470;17427945;17435760;17466273;17502619;17548610;17563756;17569659;17620599;17698952;17699868;17707089;17728246;17826744;17873020;17908693;17915561;17947705;17955473;17956728;17957250;17974989;17975158;17977914;17978573;18003639;18037622;18042044;18065756;18094050;18172692;18195352;18211808;18229454;18245548;18270269;18285346;18320023;18343820;18347946;18359116;18367605;18373550;18386162;18388150;18394702;18400751;18408180;18412542;18457437;18485364;18485875;18497978;18511558;18538669;18550537;18550849;18556464;18591380;18591668;18635949;18638579;18655187;18695913;18781797;18784277;18800240;18818696;18820127;18820283;18836734;18922470;18950863;18957107;18988734;19001379;19011619;19026643;19028451;19047110;19061638;19090995;19110265;19136058;19138996;19142186;19147678;19158084;19159681;19167051;19193894;19196961;19234166;19237536;19245816;19254810;19287380;19293389;19329795;19338310;19350847;19356729;19380743;19458189;19536328;19560753;19569046;19576239;19596686;19598015;19635199;19656872;19682504;19696785;19706771;19716330;19716405;19738201;19738418;19740745;19751963;19758187;19759002;19764559;19786027;19786724;19805354;19826009;19840459;19855434;19875381;19913121;19913553;19933325;19946888;19952119;19952121;19965370;19966776;19996089;20000738;20007907;20039095;20048054;20089831;20129057;20133715;20138989;20146531;20159553;20188096;20195357;20210521;20226014;20226818;20237157;20305087;20309963;20353823;20353944;20371770;20373063;20391533;20395553;20404110;20416171;20451233;20458337;20508983;20540933;20546334;20553606;20558745;20585984;20602789;20618441;20628086;20628368;20634891;20642453;20651072;20661446;20663926;20668552;20675372;20675402;20688913;20691061;20694452;20704274;20724477;20731692;20801936;20804554;20806039;20864038;20885985;20924358;20930503;20936779;20937817;20949042;20953179;20959453;20966961;20981255;21081666;21103899;21126747;21129190;21139048;21145461;21146485;21151955;21157430;21170051;21177334;21183720;21235734;21248063;21251717;21268072;21319273;21325980;21330372;21360678;21369706;21372220;21408136;21413014;21439943;21454478;21465483;21478269;21487019;21501532;21503962;21543763;21565611;21566061;21571784;21642987;21658391;21690293;21700222;21709012;21715568;21738476;21767636;21781956;21787283;21853274;21855341;21860411;21871133;21875325;21875461;21890473;21906983;21919888;21946088;21963094;21984809;21987572;21988832;21998300;22016036;22019372;22022502;22028380;22053931;22079093;22113938;22120110;22128174;22144665;22145905;22160715;22178446;22194440;22199355;22246440;22268041;22268729;22270370;22271573;22304920;22315411;22318716;22351691;22360420;22367781;22384180;22409343;22451720;22480737;22490666;22504172;22505724;22510516;22542455;22543833;22554505;22592212;22612223;22653663;22674575;22678819;22689214;22729780;22751105;22807676;22810585;22824801;22837396;22841823;22843495;22843619;22848402;22848678;22849407;22863883;22869522;22869732;22898980;22912728;22935698;22939624;22939629;22944692;22952420;22952844;22964853;22975376;22989880;23000965;23022381;23023377;23047954;23065205;23065523;23114515;23135731;23139789;23190580;23190606;23201460;23228483;23229893;23246001;23256568;23271023;23272037;23285036;23287597;23318261;23344957;23349634;23359685;23362263;23383273;23386606;23398456;23402259;23418523;23428871;23431407;23438482;23443559;23455922;23456764;23482560;23552409;23569206;23569248;23589305;23629654;23638161;23698466;23703321;23722539;23729439;23824909;23844194;23862649;23873112;23874879;23904609;23912458;23936217;23942779;23956138;23963841;23965991;24085845;24109220;24117238;24126057;24127568;24147044;24191708;24224465;24244333;24250222;24338924;24338975;24356957;24379398;24384723;24389346;24451373;24463348;24511009;24521827;24567332;24583282;24608665;24654937;24680776;2469626;24706778;24715760;24733395;24816145;24912674;2492519;24949977;25015289;25027693;25036637;2507541;2527334;2591742;2780322;7588731;7790358;7794926;7813446;7876093;7887964;7961671;8089152;8289821;8404044;8408024;8486648;8621522;8645634;8776728;8898375;8962087;9001212;9020169;9079689;9083006;9108479;9111057;9148915;9195923;9222609;9261129;9269769;9334248;9392437;9452498;9580552;9602032;9660753;9685350;9749880;9817749;9837941;9880522 3320 G3V2J8;G3V592;H0YJF5;K9JA46;P07900;Q86SX1;Q86U12 ABBA01048491;ABBA01048492;ABBA01048493;ABBA01048494;AF028832;AI250920;AJ890082;AJ890083;AK056446;AK129557;AK291115;AK291607;AK300126;AK310595;AL133223;AMYH02029892;BC000987;BC001695;BC007989;BC017233;BC023006;BC108695;BC121062;BX247955;BX248761;CH471061;DA237149;DC303876;DQ314871;GQ149083;M27024;M30626;NM_001017963;NM_005348;X07270;X15183 AAA36023;AAA63194;AAC25497;AAH00987;AAH07989;AAH23006;AAI08696;AAI21063;ABC40730;ADD71695;BAF83804;BAF84296;BAG51711;BAG61917;CAA30255;CAA33259;CAD62296;CAD66568;CAI64495;CAI64496;EAW81765;EAW81766;EAW81767;EAW81768;NP_001017963;NP_005339;P07900 Hs.525600 1660078;1688714;1742703;1767387;1792008;1792010;1792012;1854179;2145219;2150973;2217454;2219148;5113918 D3S4173;G35354;G35702;G35909;GDB:201870;HSPCAL3__6605;HSPCA_3204;PMC134733P3;PMC134733P4;PMC134733P5;RH75563;RH78019;WI-19188 EL52;FLJ31884;HSP 86;HSP86;HSP89A;HSP90A;HSP90N;HSPC1;HSPCA;HSPCAL1;HSPCAL4;HSPN;Hsp89;Hsp90;LAP-2;LAP2 LPS-associated protein 2;OTTHUMP00000246766;OTTHUMP00000246767;epididymis luminal secretory protein 52;heat shock 86 kDa;heat shock 90kD protein 1, alpha;heat shock 90kD protein 1, alpha-like 4;heat shock 90kD protein, alpha-like 4;heat shock 90kDa protein 1, alpha;heat shock protein HSP 90-alpha;lipopolysaccharide-associated protein 2;renal carcinoma antigen NY-REN-38 APPROVED protein-coding ENSG00000080824 HGNC:5253 00777 140571 REVIEWED 1350459 HSPA14 heat shock 70kDa protein 14 ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN 'de novo' cotranslational protein folding (inferred); FOUND IN cytosol; membrane; ribosome; INTERACTS WITH (-)-demecolcine; arecoline; atrazine 10 10 10 p13 14808301 14841780 + 14880159 14913740 + 14838160 14871741 + 737633;1580863;6480464 12477932 10786835;11932435;12832005;14592822;14702039;15146197;15342556;16002468;16385451;18818748;19019335;19460752;19527514;19946888;20689807;21139048;21208456;21730052;21738476;22053931;22505724;22939629;22990118;24250222;24816145;7906708;8125298 51182 A6NJU0;B0YIZ1;H7C2A1;Q0VDF9;Q8TAQ0 AA782088;ABBA01034605;ABBA01034606;AC069544;AF112210;AF143723;AK000880;AK225265;AK225651;AK226065;AK292323;AK302452;AMYH02022202;BC015696;BC026226;BC038845;BC065281;BC108738;BC119690;BC119691;BP201211;BQ424016;CH471072;CN308284;EF444968;NM_001278205;NM_016299;NR_103464 AAF17198;AAF66640;AAH26226;AAH65281;AAI08739;AAI19691;ACA05967;ACA05968;ACA05969;ACA05970;BAF85012;BAG50835;BAG63747;EAW86258;EAW86259;EAW86260;EAW86261;EAW86262;NP_001265134;NP_057383;Q0VDF9 Hs.534169;Hs.736996 1651179;1770382;1772190;2125736;2171364;5020948 A005E19;A006X45;G35510;RH45792;SHGC-34289;WI-12176 HSP70-4;HSP70L1;MGC131990 HSP70-like protein 1;OTTHUMP00000019161;heat shock 70 kDa protein 14;heat shock 70kDa protein 14 isoform 1 variant 3;heat shock protein HSP60;heat shock protein hsp70-related protein protein-coding ENSG00000187522 HGNC:29526 07021 610369 VALIDATED 1313610 HSPA12A heat shock 70kDa protein 12A ENCODES a protein that exhibits ATP binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 10 10 10 q26.12 112160118 112231561 - 118430703 118609693 - 116671192 116850179 - 1580863;6480464;8554872 12421765;12477932;12552099;14702039;15601604;17601350;17903304;18977241;19056867;21139048;23263487;8889548;9455477 259217 K7ELE6;K7ENF6;O43301 AB007877;ABBA01062954;AC016825;AC023283;AK023936;AK294672;AK294884;AL607110;AMYH02023874;AMYH02023875;BC041412;BU738372;CH471066;HG503281;NM_025015;XM_005269672;XM_005269673;XM_006717746;XM_006717747 AAI56092;AAI56890;BAA24847;BAH11843;BAH11914;EAW49443;NP_079291;O43301;XP_005269729;XP_005269730;XP_006717809;XP_006717810 Hs.648448 1342201;1678869;1848617;2126524;2173809;5092776 A006D08;D10S544;G32323;RH66653;SHGC-2011;STS-AA026951 FLJ13874;KIAA0417;RP11-539I5.1 OTTHUMP00000020566;heat shock 70 kDa protein 12A;heat shock 70kD protein 12A protein-coding ENSG00000165868 HGNC:19022 610701 VALIDATED 1604670 HSP90AB6P heat shock protein 90kDa alpha (cytosolic), class B member 6, pseudogene INTERACTS WITH silver(1+) nitrate 13 13 13 q32.1 78383335 78388857 - 97535672 97538121 - 96883419 96885868 - 6480464 16269234;21906983 541611 Q58FF4 ABBA01027168;AL353581;AMYH02028541;AY956767;NG_005682 AAX38254 Hs.627166 HSP90Bf APPROVED pseudo HGNC:32540 INFERRED 1321409 HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012] 12 12 12 q24.2-q24.3 103987945 104005473 + 104324112 104341708 + 103930334 103947930 + 1580863;6480464;6484113;6907045;8554872 10049727;10497210;10887119;11557039;11584270;11726552;11861214;11907036;11912201;11958450;12167617;12397072;12470827;12471035;12475965;12477932;12643545;12654781;12665801;12754519;14499622;14500642;15082718;15082773;15107540;1512535;15166316;15192333;15257553;15489334;15576338;15620698;15637761;15728573;15845869;15952740;15962384;16015374;16130169;16257961;16263699;16269234;16288044;16335966;16497268;16630554;16754684;17081065;17082602;17347446;17431395;17545519;17558393;17612505;17726464;17805476;17936703;18029348;18155754;18178560;18190237;18239673;18264092;18273841;18331622;18340425;18411291;18482745;18554719;18662321;18781797;18816836;18941243;19000834;19135240;19199708;19212831;1923827;19343720;19578160;19615732;19697319;19724918;19752220;19875450;19895174;19913121;19946888;20000738;20159978;20176102;20195357;20232284;20237496;20300187;20351288;20352117;20510162;20562859;20599762;20628086;20704820;20721957;20811636;20839070;20936779;21081666;21110914;21139048;21145461;21208614;21319273;21343306;21472681;21559462;21565611;21637029;21642380;21708117;21739154;21774995;21890473;21900206;21906983;21963094;21988832;21992474;21998592;22079093;22174317;22178446;22190034;22245095;22268729;22270544;22304920;22363530;22427667;22532561;22554506;22653265;22672426;22689054;22724016;22777994;22863883;22938940;22939629;23000965;23035116;23077236;23097496;23109341;23182705;23190606;23208072;23266770;23349634;23428871;23431407;23503679;23589305;23703321;23755898;2377606;2378869;23798571;23829397;23862649;24146856;24244333;24457600;24511009;24583282;24654937;24816145;24999993;25027693;2546060;2924290;7523574;7768954;8460400;8617772;9006956;9596688;9694898 7184 B4DHT9;F8VPC7;F8W026;H0YIV0;P14625;V9HWP2 AB209534;ABBA01053210;AC078819;AF087988;AJ890084;AK025459;AK025862;AK295262;AK298996;AK300521;AMYH02027089;AY040226;BC009195;BC066656;CA419931;CH471054;CS288589;EU794608;FJ460515;M26596;M33716;NM_003299;S74942;X15187 AAA58621;AAA68201;AAD14161;AAH09195;AAH66656;AAK74072;ACJ13662;ACS44652;BAD92771;BAG58251;BAG61085;BAG62233;CAA33261;CAI64497;CAK18765;EAW97723;EAW97724;NP_003290;P14625 Hs.192374 1682075;1744009;1774769;1790367;2116017;2118125;2141871;2142637;2191525 GDB:384824;MARC_26038-26039:1032450563:1;RH17893;RH67937;SHGC-12717;STS-H99801;STS-X15187;TRA1;WI-15169 ECGP;GP96;GRP-94;GRP94;HEL-S-125m;HEL35;TRA1 94 kDa glucose-regulated protein;OTTHUMP00000242866;Tumor rejection antigen-1 (gp96);endoplasmin;endothelial cell (HBMEC) glycoprotein;epididymis luminal protein 35;epididymis secretory sperm binding protein Li 125m;glucose regulated protein, 94 kDa;gp96 homolog;heat shock protein 90 kDa beta member 1;stress-inducible tumor rejection antigen gp96;tumor rejection antigen (gp96) 1;tumor rejection antigen 1 APPROVED protein-coding ENSG00000166598 HGNC:12028 01860 191175 REVIEWED 735529 HSPA13 heat shock protein 70kDa family, member 13 The protein encoded by this gene is a member of the heat shock protein 70 family and is found associated with microsomes. Members of this protein family play a role in the processing of cytosolic and secretory proteins, as well as in the removal of denatured or incorrectly-folded proteins. The encoded protein contains an ATPase domain and has been shown to associate with a ubiquitin-like protein. [provided by RefSeq, Jul 2008] 21 21 21 q11 900677 912750 - 15743436 15755509 - 14371115 14383188 - 1580863;6480464 10675567;10830953;11319647;12107410;12477932;14702039;15489334;16087163;16189514;16713569;18793616;19199708;19793966;21139048;21900206;21988832;22190034;23303189;24816145;8125298;8131751;8825657;8889548;8889549 6782 P48723 AA018751;AA767266;ABBA01057083;AF130249;AI912654;AK128540;AK223282;AK299004;AK312396;AL163206;AMYH02037515;BC017580;BC036370;BE467288;BI548162;CA392315;CF141775;CH471079;NM_006948;U04735 AAA16954;AAD21091;AAH36370;BAD97002;BAG35313;BAG54692;BAG61088;CAB90390;EAX10055;EAX10056;EAX10057;NP_008879;P48723 Hs.352341 1643741;1678629;1793972;5123826 D21S1954;PMC310710P2;RH38924;SHGC-30361 STCH OTTHUMP00000082970;heat shock 70 kDa protein 13;microsomal stress 70 protein ATPase core;microsomal stress-70 protein ATPase core;stress 70 protein chaperone, microsome-associated, 60kD;stress 70 protein chaperone, microsome-associated, 60kDa;stress-70 protein chaperone microsome-associated 60 kDa protein APPROVED protein-coding ENSG00000155304 HGNC:11375 03061 601100 REVIEWED 1345994 HSPA3 heat shock 70kDa protein 3 3307 HGNC:5236 736398 HSPA1B heat shock 70kDa protein 1B This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33393763 33396281 + 31789964 31798032 + 31827735 31830254 + 1580863;1626649;1626646;1626642;5147593;5147596;5147601;5147595;6480464;6767553;6907045;7242732;7242733;7242743;7242747;7242748;7242749;8662462;8662845;8662465;8662463;8662841 10550516;10965299;11319647;12771604;15223990;15992611;18299791;18518860;18580475;18813331;19731315;19914824;20379347;20490736;20692469;21549006;21993476;22922572;23666708 10205060;10216320;10617616;10859165;10964507;11231577;11533664;11696222;11730740;11779758;11864979;11932435;11971973;12008944;12082592;12150907;12207910;12391142;12411538;12477932;12490434;12544996;12691826;12703993;12730033;12832005;12853476;12967056;14506234;14574404;14605873;14656967;1478667;15165109;15232679;15236755;15324660;15489334;15492215;15603737;15671022;15714129;15748471;15885686;15963462;15963589;16130169;16165702;16169070;16202503;16236267;16275660;16333988;16344560;16441767;16525348;16713569;16804002;16953332;16964243;1700760;17081983;17158748;17167422;17289661;17301649;17311111;17314700;17342744;17364813;17428599;17532782;17558451;17582394;17620599;17940904;18191480;18344806;18478330;18529014;18551993;18580445;18759004;18818748;18822209;18844219;18850735;18975920;18987644;19019335;19046306;19085089;19190083;19199708;19275587;19287380;19299493;19322201;19335985;19351530;19380743;19439993;19527514;19596686;19626584;19643584;19661373;19738201;19754858;19759913;19840767;19851445;20012387;20043082;20140262;20207250;20388090;20498198;20568452;20587610;20639865;20704535;20714140;20876613;20972266;21139048;21145461;21360678;21373891;21471543;21487019;21693764;21738007;21738476;21763498;21890473;21906983;21963094;21970979;21987572;21988832;22037874;22053931;22160620;22268729;22323290;22468780;22505724;22623428;22797398;22834788;22883735;23000965;23065205;23125841;23182705;23184937;23246001;23330093;23349634;23425104;23490384;23798571;23862649;23874968;23885119;24328534;24399297;24457600;24654937;24816145;25015289;25036637;2538825;2858050;2880793;3019832;3470951;3786141;3931075;7906708;9553041 3304 A8K5I0;P08107 ABBA01038087;ABBA01038088;AF134726;AK295398;AK303967;AL360193;AL662834;AL671762;AL929592;AMYH02013456;BA000025;BC001876;BC057397;BC063507;CH471081;CR388202;CR759915;DB015158;M24744;M59830;NM_005346 AAA59845;AAA63227;AAD21815;AAH57397;AAH63507;ABM87425;BAB63299;BAG58351;BAG64891;EAX03529;NP_005337;P08107 Hs.719966 1742775;1745013;1791624;1794472;1796014;1849369 G30153;GDB:204303;GDB:592864;HSPA1B_126;PMC117401P1;PMC314357P1 FLJ54328;HSP70-1B;HSP70-2;HSPA1A HSP70-1/HSP70-2;HSP70.1/HSP70.2;OTTHUMP00000029288;heat shock 70 kDa protein 1/2;heat shock 70 kDa protein 1A/1B;heat shock 70kD protein 1B;heat shock 70kd protein 1a 1643377 BW325_H APPROVED protein-coding ENSG00000204388 HGNC:5233 06784 603012 REVIEWED 735843 HSPA2 heat shock 70kDa protein 2 ENCODES a protein that exhibits enzyme binding; unfolded protein binding; INVOLVED IN negative regulation of inclusion body assembly; protein refolding; PARTICIPATES IN antigen processing and presentation pathway; endocytosis pathway; Endoplasmic Reticulum-associated degradation pathway; FOUND IN blood microparticle; cytosol; extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dichloroindophenol; 4-hydroxynon-2-enal 14 14 14 q24.1 45064915 45067684 + 65007186 65009955 + 64540468 64543237 + 1580863;6480464;6907045 10617616;10964507;11040178;11196683;11334675;11790298;11932435;12477932;12493773;12730033;12771604;12782964;12832005;14702039;1474216;15146197;15489334;16051665;16189514;16335966;16344560;16497536;16517558;16713569;16875346;17007855;17009596;17110338;17369882;17532782;17601350;17643375;17922431;17940904;18029348;18452162;18813331;18977241;19056867;19167759;19275587;19607827;19661373;19815555;19875381;19946888;20473970;20639865;20972266;20975101;21139048;21373891;21382349;21738476;21763498;21832049;21890473;21906983;21963094;21987572;22053931;22079093;22108332;22178446;22353510;22397456;22505724;22586326;22670834;22939629;22963397;23000965;23077236;23209833;23246001;23247813;23349634;23425104;23438482;23443559;23703321;23777267;23824909;23874603;23956138;24051039;24244333;24485944;24639526;24922646;25015289;25027693;25036637;3037489;7829106;7849706;7906708;8601336;8622925;9247342 3306 B3KUS2;P54652 ABBA01018363;AK097824;AL049869;AMYH02029359;BC001752;BC034365;BC036107;BG772858;BI461827;BT009815;CD300159;CH471061;CN356507;DB042367;DQ489378;L26336;NM_021979 AAA52698;AAH01752;AAH36107;AAP88817;ABE96830;ABM83464;ABM86675;BAG53534;EAW80864;EAW80865;NP_068814;P54652 Hs.432648 1669555;1796018;1846542;2150702 HSPA2_986;RH69032;RH69861;STS-T24102 HSP70-2;HSP70-3 OTTHUMP00000180664;heat shock 70kD protein 2;heat shock-related 70 kDa protein 2;testis-specific heat shock protein-related gene hst70 protein-coding ENSG00000126803 HGNC:5235 07174 140560 VALIDATED 1353078 HSPA1L heat shock 70kDa protein 1-like This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33375646 33381084 - 31777396 31790093 - 31809619 31821040 - 1580863;5147597;5147596;5147600;5147598;6480464;6907045;8662466;8662461;8662465;8554872;8662464 15024131;17009596;17591867;18299791;20498198;22922572;23870089 11040178;11076863;11334675;11599570;11696222;11779758;12008944;12082592;12477932;12544996;12742533;1356099;14574404;14605873;14656967;15165109;15236755;15489334;15489336;15818324;15963589;16196087;16202503;16333988;16364915;16381901;16525348;16538175;16538176;16565291;16611259;1700760;17060867;17110338;17184779;17428599;17578680;17582394;17601350;17620599;17643375;17934269;18518860;18551993;18781797;18813331;18818748;18850735;18977241;18987644;19019335;19085089;19116923;19143821;19299493;19343720;19351530;19374512;19380743;19439993;19527514;19626584;19643584;19731315;19789190;19840767;19851445;19875381;19913121;20000738;20012387;20069064;20096741;20388090;20391533;20568452;20587610;20628086;20704535;20714140;20800603;20972266;21139048;21145461;21182205;21726808;21890473;21906983;21963094;21987572;22053931;22079093;22178446;22505724;22810585;22863883;22939629;23000965;23028341;23125841;23246001;23330093;23349634;23443559;23490384;23666708;23703321;23824909;24051039;24244333;24399297;24654937;24657165;24816145;25036637;2538825;2880793;3470951;3927293;8125298;9349405;9685725 3305 B4DI54;B4DXY3;P34931;Q53FA3 ABBA01038086;AF134726;AK223386;AK295416;AK302179;AK315227;AL662834;AL671762;AL929592;AMYH02013455;BA000025;BC034483;BG717447;BX115051;CA443193;CH471081;CR388202;CR759915;D85730;DQ383515;M11236;M59829;NG_011855;NM_005527;XM_005249070;XM_005249071;XM_005249073;XM_005272813;XM_005272816;XM_005272817;XM_005274859;XM_005274861;XM_005274862;XM_005274970;XM_005274973;XM_005274974;XM_005275399;XM_005275401;XM_005275402 AAA52696;AAA63228;AAD21817;AAH34483;ABC88476;BAA32521;BAB63301;BAD97106;BAG37656;BAG58366;BAG63545;CAL37423;CAL37689;CAL38291;EAX03527;NP_005518;P34931;XP_005249127;XP_005249128;XP_005249130;XP_005272870;XP_005272873;XP_005272874;XP_005274916;XP_005274918;XP_005274919;XP_005275027;XP_005275030;XP_005275031;XP_005275456;XP_005275458;XP_005275459 Hs.690634 1649565;1791624;1791778;1791794;1792004;1792170;1793120;1794472;1796016;2106213;2128362;2148873;2189749 D6S2779;HSPA1L__1180;N3_2_5;PMC117401P1;PMC125271P2;PMC125702P4;PMC134733P1;PMC138289P2;PMC196894P1;PMC314357P1;RH12516;RH35868;STS-M59829 HSP70-1L;HSP70-HOM;HSP70T;hum70t OTTHUMP00000029295;heat shock 10kDa protein 1-like;heat shock 70 kDa protein 1-Hom;heat shock 70 kDa protein 1-like;heat shock 70 kDa protein 1L;heat shock 70kD protein-like 1 APPROVED protein-coding ENSG00000204390 HGNC:5234 00776 140559 REVIEWED 1346401 HSPA6 heat shock 70kDa protein 6 (HSP70B') ENCODES a protein that exhibits ATPase activity, coupled; enzyme binding; heat shock protein binding; INVOLVED IN ATP catabolic process; cellular response to heat; protein refolding; PARTICIPATES IN antigen processing and presentation pathway; endocytosis pathway; Endoplasmic Reticulum-associated degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN blood microparticle; centriole; COP9 signalosome; INTERACTS WITH (E)-cinnamyl alcohol; 1,3-benzothiazole-2-thiol; 1,4-phenylenediamine 1 1 1 q23 1 773 - 161494036 161496687 + 161524246 161526897 + 1580863;6480464;6907045;8554872 10413683;10617616;10964507;11932435;12477932;12832005;1346391;14702039;15489334;16196087;16335966;16497536;17110338;17601350;17620599;17623298;17643375;18229458;18347947;18372927;18579131;18685789;18781797;18818748;18850735;18977241;19019335;19074885;19199708;19275587;19287380;19380743;19423540;19527514;19773279;19815544;19875381;20084477;20140262;20348092;20391533;20406964;20438785;20972266;21044950;21139048;21145461;21297633;21565611;21738476;21763498;21853274;21890473;21906983;21963094;21987572;21988832;22053931;22178446;22190034;22505724;22863883;22939629;23000965;23128233;23246001;2327978;23438482;23652523;23703321;24039173;24654937;25036637;3184191;7545947;7906708;8125298 3310 B4DHP5;P17066 ABBA01047318;AC243509;AK093925;AK223362;AK295212;AK312756;AL590385;BC004279;BC035665;BQ008960;BQ217460;DQ521571;NM_002155;X51757;X51758 AAH04279;AAH35665;ABF47108;ABM83372;ABM86583;BAD97082;BAG35622;BAG52788;BAG58207;CAA36061;CAA36062;NP_002146;P17066 Hs.654614 2147260;2185902 RH70826;STS-X51758 OTTHUMP00000032372;heat shock 70 kDa protein 6;heat shock 70 kDa protein B';heat shock 70kD protein 6 (HSP70B') protein-coding ENSG00000173110 HGNC:5239 00775 140555 VALIDATED 1350877 HSPA4L heat shock 70kDa protein 4-like ENCODES a protein that exhibits ATP binding (ortholog); INVOLVED IN protein folding (ortholog); response to unfolded protein (ortholog); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN cytosol; cytoplasm (ortholog); nucleus (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 4 4 4 q28 126082422 126133472 + 128703453 128755228 + 127782209 127833367 + 1580863;6480464;6907045 10524232;11389747;12423363;12477932;12952923;14702039;15489334;15815621;17024176;17353931;19169850;20639865;20800603;20811636;21139048;21890473;21906983;21946539;21963094;21987572;22053931;22505724;22863883;22939629;22990118;23000965;23349634;23509252;24091676;24250222;24816145;25027693;25036637 22824 D6RJ96;E9PDE8;O95757 AB023421;ABBA01044794;AC093591;AK027822;AK302115;AK303053;AK307464;AMYH02010070;AY290862;BC040560;CH471056;EF197155;NM_014278;XM_006714140 AAH40560;AAP44471;AAY40975;ABM69040;BAA75063;BAG51382;BAG63494;BAG64172;EAX05197;EAX05198;NP_055093;O95757;XP_006714203 Hs.135554 1665167;2108695;2152622 APG-_1_9274;D4S587;G33318 APG-1;HSPH3;Osp94 OTTHUMP00000164424;OTTHUMP00000219888;OTTHUMP00000219889;OTTHUMP00000219890;heat shock 70 kDa protein 4-like protein;heat shock 70 kDa protein 4L;heat shock 70-related protein APG-1;heat shock protein (hsp110 family);osmotic stress protein 94 protein-coding HGNC:17041 07137 PROVISIONAL 1349004 HSPA7 heat shock 70kDa protein 7 (HSP70B) ENCODES a protein that exhibits ATP binding (inferred); FOUND IN blood microparticle; COP9 signalosome; extracellular vesicular exosome; INTERACTS WITH acetylsalicylic acid; cadmium dichloride; ibuprofen 1 1 1 q23.3 1102 2492 + 161575849 161578341 + 161606059 161608551 + 1580863;6480464 11072087;12107410;1346391;17044073;17163517;17620599;17915554;17915556;18584345;18781797;18850735;19380743;19875381;21145461;21906983;22190034;23349634;23443559;24244333;3927293;8889548 3311 P48741 AC243971;AF093759;AL451067;BM677874;CA391777;DR004990;NR_024151 P48741 Hs.662180 2147260;2185902 RH70826;STS-X51758 HSP70B pseudo HGNC:5240 140556 PROVISIONAL 7204952 HSPA8P10 heat shock 70kDa protein 8 pseudogene 10 2 2 2 229370569 229371439 - 235653353 235654223 - 234744709 234745579 - 100420004 ABBA01013924;AC104394;AMYH02006025;NG_023674 pseudo HGNC:44925 INFERRED 7205282 HSPA8P11 heat shock 70kDa protein 8 pseudogene 11 8 8 8 p12 29054088 29056190 + 30094802 30096905 + 30237286 30239389 + 392209 ABBA01023671;AC090820;AMYH02017712;NG_022415 pseudo HGNC:44926 INFERRED 7204949 HSPA8P12 heat shock 70kDa protein 8 pseudogene 12 4 4 4 186941929 186943313 + 189634798 189636182 + 188713644 188715028 + 100420038 ABBA01070598;AC093909;AMYH02010717;NG_025278 pseudo HGNC:44927 INFERRED 7204962 HSPA8P14 heat shock 70kDa protein 8 pseudogene 14 12 12 12 q24.12 111445658 111449916 + 111819587 111823484 + 111381783 111385680 + 642580 ABBA01019888;AC005805;AMYH02027204;NG_028771 pseudo HGNC:44929 INFERRED 7204947 HSPA8P15 heat shock 70kDa protein 8 pseudogene 15 6 6 6 152466283 152468979 - 151732397 151735092 - 151411262 151413957 - 100420051 ABBA01025640;AL590413;AMYH02014725;NG_025882;NG_033031 pseudo HGNC:44930 INFERRED 1350097 HSPA8P1 heat shock 70kDa protein 8 pseudogene 1 X X X q24 120718274 120720523 - 120336697 120338946 - 121202843 121205092 - 3001086;3684609 3314 ABBA01036102;ABBA01036103;AC002377;AMYH02040374;M12119;NG_001144;Y00481 HSPAP1 APPROVED pseudo HGNC:5245 INFERRED 7204966 HSPA8P16 heat shock 70kDa protein 8 pseudogene 16 7 7 7 q21.11 79361105 79363235 + 84657064 84659251 + 85027748 85029935 + 100289643 ABBA01045885;AC004957;AMYH02016194;CH236949;NG_022569 pseudo HGNC:44931 INFERRED 7204965 HSPA8P17 heat shock 70kDa protein 8 pseudogene 17 9 9 30987926 30990230 + 30987928 30990232 + 100533658 ABBA01065095;AL353745;AMYH02019391;NG_028723 pseudo HGNC:44932 INFERRED 736447 HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) The protein encoded by this gene is a member of the heat shock protein 70 (HSP70) family. It is localized in the lumen of the endoplasmic reticulum (ER), and is involved in the folding and assembly of proteins in the ER. As this protein interacts with many ER proteins, it may play a key role in monitoring protein transport through the cell.[provided by RefSeq, Sep 2010] 9 9 9 q33.3 98645114 98651649 - 127997127 128003666 - 125234848 125241387 - 1580863;5686293;5685632;5685639;5685704;5685650;6480464;5686342;5685671;5685686;5685640;5685690;5685666;5685664;5685668;6907045;8554872 11315915;20957756;21094208;21112319;21209083;21436843;21864296;21927577;21933012;21940431;22075494;22143970;22227563 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3309 B4DEF7;P11021;V9HWB4 AA433933;ABBA01043777;AF188611;AF216292;AJ271729;AK129617;AK293604;AL354710;AMYH02021645;BC020235;CH471090;CS288575;DA549454;DQ385847;EU794617;M19645;NG_027761;NM_005347;X59969;X87949 AAA52614;AAF13605;AAF42836;AAH20235;ABD04090;ABM83099;ABM86294;ACJ13671;BAG57068;CAA42595;CAA61201;CAB71335;CAK18759;EAW87620;EAW87621;NP_005338;P11021 Hs.743241 1697950;1728973;1791376;1796020;2153189;5019925;5022450 D10S275;D2Wsu17e;D9S1138;HSPA5_988;PMC108893P1;RH102504;RH94472 BIP;FLJ26106;GRP-78;GRP78;HEL-S-89n;MIF2 heat shock 70kd protein 5;78 kDa glucose-regulated protein;Heat-shock 70kD protein-5 (glucose-regulated protein, 78kD);OTTHUMP00000022124;endoplasmic reticulum lumenal Ca(2+)-binding protein grp78;epididymis secretory sperm binding protein Li 89n;glucose-regulated protein, 78-kD;heat shock 70 kDa protein 5;heat shock 70kD protein 5 (glucose-regulated protein, 78kD);immunoglobulin heavy chain-binding protein APPROVED protein-coding ENSG00000044574 HGNC:5238 00682 138120 REVIEWED 7204948 HSPA8P19 heat shock 70kDa protein 8 pseudogene 19 3 3 3 130791458 130794731 + 132365965 132369238 + 132647121 132650394 + 100420049 ABBA01059181;AC020632;AMYH02007689;NG_025743 pseudo HGNC:44935 INFERRED 1349475 HSPA1A heat shock 70kDa protein 1A This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33381540 33383968 + 31782952 31785719 + 31815514 31817942 + 1580863;5147600;5147599;5147596;5147598;5147593;5147595;6480464;6907045;7242743;7242747;7257647;7257654;7257601;7257650;7257648;7257651;7257646;7257652;7257649;6767553;7257595;7257645;8662466;8662845;8662840;8662465;8662464 15585408;17009596;18299791;18518860;18580475;19241595;19333379;19914824;20490736;20498198;21439970;21549006;21849784;21993476;22266570;22328194;22509781;22526757;22922572;23321917;23447019;23564583;23870089;23893339 10092532;10205060;10216320;10330192;10354271;10376524;10593983;10617616;10629618;10651811;10786835;10862698;10934467;10964507;10980614;11101523;11133992;11215307;11230127;11310559;11356186;11415446;11500375;11527400;11533664;11584023;11595173;11679576;11696222;11741305;11779758;11785981;11790298;11798084;11821413;11864979;11877453;11888936;11909948;11912194;11932435;11971973;12008944;12077419;12080070;12082088;12082592;12093808;12149123;12150907;12161444;12167617;12167701;12207910;12391142;12397061;12411538;12477932;12481031;12490434;12526792;12670868;12677068;12682040;12687213;12724406;12832005;12840151;12853476;12865437;12930708;12935469;12941774;12963728;14499622;14501185;14503850;14517289;14527417;14574404;14605873;14636579;14656967;14676191;14702039;1478667;14981913;14993262;15079808;15142379;15165109;15166037;15189447;15190186;15207703;15232679;15280693;15292002;15324660;15331702;1540595;15456888;15489334;15544165;15569319;15632129;15638722;15662014;15735003;15735699;15748471;15780175;15817944;15832029;15832179;15870294;15877962;15952740;15963462;15963589;15967112;16009940;16012946;16133872;16140033;16159877;16172114;16196087;16201310;16202503;16236267;16263121;1628823;16306228;16333988;16344560;16400691;16441767;16492383;16538175;16538176;16543726;16624816;16647242;16679378;16713569;16804002;16806014;16896546;16948906;16964243;1700760;17081983;17110338;17158748;17206383;17235439;17267499;17278879;17332370;17341665;17342744;17364813;17428599;17471537;17555092;17582394;17591867;17601350;17645866;17668636;17707232;17873279;17891901;17908427;17915554;17915559;17977914;17979178;18155754;18158591;18166694;18274635;18323737;18350254;18372927;18382667;18387829;18425350;18508912;18579131;18704483;18712940;18772114;18813331;18818748;18819021;18839337;18845908;18850631;18975920;18977241;18986301;18987644;19001088;19018093;19019335;19041431;19085089;19089598;19158413;19165527;19167051;19221897;19275585;19275587;19287380;19336004;19339340;19351493;19351530;19357992;19367718;19394292;19405961;19439993;19471022;19486887;19527514;19546256;19549684;19582769;19596686;19626584;19666596;19738201;19771447;19815544;19817876;19840767;19851445;19875381;19875982;19913121;19921986;20000738;20007907;20012387;20029029;20062073;20093746;20195357;20199785;20300187;20368414;20388090;20391533;20415540;20430459;20471030;20531386;20542028;20552383;20558613;20568452;20585345;20587610;20601427;20628086;20633729;20639865;20682791;20692469;20694452;20704535;20805357;20806039;20807285;20864555;20876613;20930503;20936779;20946988;20959453;20972266;21044950;21059845;21081666;21094186;21132545;21132546;21145461;21146485;21150319;21187371;21318276;21333981;21373891;21390211;21443787;21446356;21693764;21738476;21745403;21751214;21763498;21784850;21915333;21963094;21966512;21970979;21988832;22070286;22077956;22123078;22198139;22236337;22268729;22337587;22360420;22414085;22477150;22497815;22505724;22515481;22542718;22623428;22863883;22933322;22939629;22948392;22963397;23042605;23065523;23084401;23090292;23125841;23154057;23171464;23184937;23212905;23246001;23266770;23271055;23272037;23341456;23349634;23383273;23395854;23398456;23416714;23443559;23455922;23482560;23554879;23569248;23581516;23629654;23666708;23698466;23704948;23729439;23737532;23798571;23824909;23862649;23885119;23901248;23904609;23973223;24041570;24070736;24113772;24126416;24133061;24175631;24196953;24244333;24318877;24325467;24328534;24337577;24399297;24457600;24550385;24567332;24583282;24816145;24919558;24949977;25015289;25027693;2538825;2858050;2880793;3019832;3470951;3786141;3931075;7529764;7811761;7906708;8125298;8729618;8887650;9148915;9250404;9252351;9261129;9305631;9499401;9649501;9699716;9830037;9873016;9920933 3303 A8K5I0;B3KTT5;P08107;V9GZ37 AB018045;AB209818;ABBA01038086;ABBA01038087;AF134726;AK096017;AK225692;AK225699;AK291295;AK294182;AK298056;AK301243;AK301574;AK303980;AK304618;AK304652;AL662834;AL671762;AL929592;AMYH02013455;BA000025;BC002453;BC009322;BC018740;CH471081;CR388202;CR759915;DA256622;DA486842;DQ388429;DQ451402;FJ224292;M11717;M24743;M59828;NG_011855;NM_005345;X04676;X04677 AAA52697;AAA59844;AAA63226;AAD21816;AAH02453;AAH09322;AAH18740;ABD48956;ABD96830;ABW03885;ACI45984;BAA77235;BAB63300;BAD93055;BAF83984;BAG53197;BAG57500;BAG60350;BAG62811;BAG63067;BAG64898;BAG65400;BAG65428;CAA28381;CAA28382;EAX03528;NP_005336;P08107 Hs.274402;Hs.702139 1742775;1745013;1791624;1791778;1791794;1792004;1792006;1792170;1793120;1794472;1794524;1796012;1849369;2121321;2128362;2147161 D6S1170E;G30153;GDB:204303;GDB:592864;HSPA1A_124;PMC117401P1;PMC125271P2;PMC125702P4;PMC134733P1;PMC134733P2;PMC138289P2;PMC196894P1;PMC314357P1;PMC316709P1;RH35868;STS-M11717 FLJ54303;FLJ54370;FLJ54392;FLJ54408;FLJ75127;HEL-S-103;HSP70;HSP70-1;HSP70-1/HSP70-2;HSP70-1A;HSP70.1/HSP70.2;HSP70I;HSP72;HSPA1;HSPA1B OTTHUMP00000029287;dnaK-type molecular chaperone HSP70-1;epididymis secretory protein Li 103;heat shock 70 kDa protein 1/2;heat shock 70 kDa protein 1A/1B;heat shock 70kD protein 1A;heat shock-induced protein APPROVED protein-coding ENSG00000204389 HGNC:5232 00774 140550 REVIEWED 5130587 HSPA8P2 heat shock 70kDa protein 8 pseudogene 2 13 13 13 71040218 71041051 - 90198617 90199450 - 89546363 89547196 - 100420133 ABBA01027257;AL583783;AMYH02028446;NG_024873 pseudo HGNC:39806 INFERRED 7204811 HSPA8P20 heat shock 70kDa protein 8 pseudogene 20 X X X q25 123723367 123724426 - 123338598 123339657 - 124204748 124205807 - 100129231 ABBA01036441;AL391241;AMYH02040422;CH471107;NG_023274;NG_033796 EAX11852 pseudo HGNC:44936 INFERRED 733190 HSPA4 heat shock 70kDa protein 4 INVOLVED IN chaperone-mediated protein complex assembly; protein import into mitochondrial outer membrane; PARTICIPATES IN antigen processing and presentation pathway; cortisol signaling pathway; estrogen signaling pathway; ASSOCIATED WITH Arthritis, Rheumatoid; Chagas Disease; Colitis, Ulcerative; FOUND IN cytosol; extracellular vesicular exosome; mitochondrion; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 5 5 5 q31.1 128517326 128569460 + 132387662 132440709 + 133051970 133105017 + 1580863;4892102;5144125;6218964;5686871;5686872;5686884;6218966;5688754;6218959;6218961;6218995;5688753;5688785;6218957;5688755;5688781;5688784;5688779;6480464;6907045;8554872 12235111;16610357;17473852;18451092;18601936;19350847;21709150;21787762;21801456;22047640;22067617;22140545;22186119;22213170;22245947;22297444;22349026;22355243 10205060;10225950;10330192;10409742;10524232;10617616;10629618;10671488;10811660;10934467;10964507;11054417;11116152;11133992;11231577;11274138;11500375;11520069;11584023;11606597;11707406;11777905;11821413;11877417;11912194;11932435;12006493;12167701;12356871;12477932;12482202;12485826;12526792;12574167;12670868;12676955;12677068;12684064;12750378;12754272;12775586;12812987;12832005;12874020;12874291;12930902;12963728;12963786;14503850;14506234;14527417;14532117;14532270;14559896;14594945;14676191;14702098;14711827;14726529;14743216;14752510;14962978;14987991;15150263;15189447;15198682;15207703;15215856;15254225;15299030;15319539;15344906;15358145;15367657;15378924;15383005;15383534;15388581;15456888;15466472;15507967;15525661;15529360;15538384;15556606;15592455;15596450;15603737;15644312;15647277;15654337;15677475;15735003;15758953;15792802;15798097;15818324;15870294;15937340;15950770;15967112;15992611;16021519;16093354;16133872;16135753;16169070;16169850;16248461;16275660;1628823;16289162;16293251;16306228;16314389;16354686;16507982;16556936;16579839;16584808;16598923;16621797;16697380;16713569;16714300;16723087;16777091;16790501;16809764;16845230;16884686;16888650;16895519;16919237;16943429;16951198;16954220;16962653;17010992;17012257;17024176;17027895;17127076;17139257;17148442;17154545;17158748;17167422;17184779;17206383;17211576;17239458;17240362;17242407;17272822;17274640;17278882;17278883;17311516;17317785;17342744;17452440;17461779;17466273;17512523;17553457;17573780;17580361;17601350;17616937;17671431;17676665;17802821;17873020;17947705;17955473;17988935;17992192;18026119;18029348;18088459;18094050;18162458;18211808;18223694;18248624;18258197;18271526;18297536;18322243;18359116;18408180;18418731;18426646;18436529;18439902;18456818;18457437;18485875;18489731;18505677;18550409;18550849;18556464;18573886;18587674;18608178;18651163;18657505;18686014;18716059;18729074;18781797;18784277;18790094;18799101;18806873;18813348;18818748;18977241;19001415;19017364;19017811;19019335;19026123;19069644;19071123;19098309;19114714;19116451;19148187;19196961;19205928;19229298;19231003;19233847;19237536;19246649;19261749;19275587;19338310;19343720;19349277;19376117;19420297;19475432;19486527;19527514;19529862;19543852;19544471;19598015;19604401;19620938;19622774;19635199;19639585;19648119;19659607;19716411;19758187;19758266;19764559;19766166;19802386;19826009;19892702;19913553;19919883;19933325;19940151;19952398;19995547;20012529;20020773;20026329;20053985;20069064;20132183;20146531;20156966;20164180;20170613;20221403;20228063;20300983;20349136;20353025;20354811;20368414;20371770;20395553;20426530;20498198;20516061;20516149;20540933;20547759;20568452;20569278;20583115;20632817;20639865;20639872;20661446;20663926;20704274;20714140;20714862;20731692;20735358;20801936;20804554;20806409;20809635;20810659;20811636;20842208;20847049;20876215;20964628;21046302;21081666;21124777;21139048;21145461;21151955;21161074;21179807;21183741;21203488;21208456;21228271;21233200;21235734;21268072;21298030;21299508;21319273;21325980;21330950;21343306;21353370;21358815;21360678;21385873;21403392;21418859;21442384;21454478;21474779;21477782;21480956;21487019;21502505;21503962;21518764;21522149;21539621;21549100;21566061;21625540;21639839;21672353;21725599;21738476;21745816;21750953;21763498;21767633;21775503;21775628;21822214;21832061;21839816;21887822;21890473;21906983;21940409;21946088;21963094;21972530;21985244;21987572;21992180;22022600;22032827;22037021;22053931;22128174;22130672;22143029;22157767;22160715;22219199;22294379;22343013;22345440;22409343;22443056;22461698;22505724;22528773;22535481;22536838;22544056;22586326;22613557;22689214;22824801;22863883;22876279;22901192;22939629;22952844;22990868;23000965;23023377;23040663;23043959;23077236;23109422;23139789;23152061;23154057;23212539;23246001;23264621;23271055;23276928;23293021;23318261;23344957;23349634;23352325;23359685;23382911;23383273;23392055;23402259;23410750;23412384;23425286;23428871;23438482;23528882;23542779;23703321;23722539;23737532;23756845;23764847;23776617;23807299;23824909;23831374;23831493;23840795;23874478;23913168;23940031;23962724;23965991;23973223;23985798;24012426;24021284;24047968;24051131;24065282;24086464;24095952;24129571;24243066;24252366;24255178;24338975;24356957;24449167;24474693;24480410;24501795;24550385;24651434;24660549;24715760;24816145;24912674;25015289;25027693;25036637;25095651;7529764;7887964;7906708;8335910;8889548;9115634;9161406;9222609;9247342;9250404;9305631;9392437;9452498;9553041;9649501;9694873 3308 P34932;Q9BUK9 AB023420;AB209151;ABBA01068782;AC113410;AK294859;AK295847;AK297762;AK299710;AK300050;AK300770;AK303382;AK304578;AK311097;AK311125;AK311135;AK311224;AK311299;AK311316;AK311422;AK311457;AK311465;AK311466;AK311471;AK311483;AK311615;AK311632;AK315862;AK315871;AK315875;AK315887;AMYH02012224;BC002526;BC110861;BC126122;BC126124;BG723797;BQ431980;BT007375;BU171424;BU686725;CF145856;CH471062;FJ224293;L12723;NM_002154;X67640;X67643 AAA02807;AAH02526;AAI10862;AAI26123;AAI26125;AAP36039;ACI45985;ADR83280;BAA75062;BAD92388;BAF98753;BAF98762;BAF98766;BAF98778;BAG57963;BAG58655;BAG60110;BAG61610;BAG61859;BAG62435;BAG64438;BAG65366;CAA47885;CAA47886;EAW62294;EAW62295;NP_002145;P34932 Hs.90093 1763407;2108157;2123162;2124908;2143629;5017708;5125419 HSPA4;HSPA4_7803;RH65703;SHGC-147123;SHGC-35073;STS-H93522;STS-R11513 APG-2;HEL-S-5a;HS24/P52;HSPH2;MGC131852;RY;hsp70;hsp70RY OTTHUMP00000159262;epididymis secretory sperm binding protein Li 5a;heat shock 70 kDa protein 4;heat shock 70-related protein APG-2;heat shock 70kD protein 4;heat shock protein, 110 kDa;hsp70 RY protein-coding HGNC:5237 09025 601113 VALIDATED 7204946 HSPA8P3 heat shock 70kDa protein 8 pseudogene 3 10 10 27003561 27004984 + 26714632 26716055 + 100420143 ABBA01034412;AL390961;AMYH02022500;NG_025479 pseudo HGNC:44918 INFERRED 7204953 HSPA8P4 heat shock 70kDa protein 8 pseudogene 4 5 5 5 125606079 125608216 + 129475701 129477840 + 130140008 130142147 + 100420028 ABBA01068845;AC005373;AMYH02012186;NG_024717 pseudo HGNC:44919 INFERRED 7205171 HSPA8P5 heat shock 70kDa protein 8 pseudogene 5 12 12 12 p13.32 5828568 5830915 + 4206539 4208886 + 4097373 4099720 + 399988 ABBA01048771;AC007207;AMYH02025917;NG_021701 1663578 G17622 pseudo HGNC:44920 INFERRED 7205336 HSPA8P6 heat shock 70kDa protein 8 pseudogene 6 2 2 2 q34 203705142 203706693 - 209937324 209938875 - 209072600 209074151 - 130195 ABBA01062716;AC013409;AMYH02005668;NG_021552 pseudo HGNC:44921 INFERRED 7204950 HSPA8P7 heat shock 70kDa protein 8 pseudogene 7 X X X 114444349 114446571 - 114009149 114011412 - 114774590 114776853 - 100420080 ABBA01053606;AC004822;AL590097;AMYH02040270;NG_026750 pseudo HGNC:44922 INFERRED 736219 HSPA8 heat shock 70kDa protein 8 This gene encodes a member of the heat shock protein 70 family, which contains both heat-inducible and constitutively expressed members. This protein belongs to the latter group, which are also referred to as heat-shock cognate proteins. It functions as a chaperone, and binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 11 q24.1 120087529 120092173 - 122928200 122933074 - 123057492 123062335 - 1580863;2326084;6480208;6480203;6218982;6480104;6480464;6480224;6478714;5688778;6480228;6480229;6480236;6218976;6218980;5688780;6907045;7242788;7242762;4142786;7242785;7242786;7242787 10469394;14966137;16303141;16356826;16805800;17241115;17330940;17341625;18441202;18704197;19578980;19684010;20697033;21135124;21137014;21475814;21824468;22171050;7569112;9557158 10075921;10197448;10205060;10330192;10567422;10617616;10625686;10635329;10666020;10671488;10722728;10954706;10964507;10976766;10982807;11031247;11093761;11101529;11116152;11146634;11222862;11230127;11241348;11252894;11276205;11297531;11500375;11557750;11679576;11687574;11707406;11741305;11790298;11909948;11932435;12150907;12297498;12356871;12391170;12417652;12421917;12471035;12477932;12481031;12493773;12502735;12517784;12670868;12724406;12750892;12832005;12840151;12850307;1286667;12874020;12890148;14499622;14532270;14557246;14612456;14684748;14702039;14752510;14760703;14978028;14991745;14993262;15009096;15047060;15048123;15086793;15194794;15198682;15215316;15254225;15292236;15302935;15324660;15336565;15344906;15358145;15456888;15489334;15492215;15497503;15538384;15592455;15596450;15611333;15625011;15635413;15644312;15647277;15694383;15795242;15802566;1586970;15870294;15936278;15952740;15963462;15972823;16009940;16027165;16037132;16093354;16100000;16169070;16189514;16196087;16207813;16212417;16225871;16236267;16275660;16293251;16335966;16365278;16497536;16501598;16502470;16531398;16621797;16696853;16712842;16740632;16777091;16815975;16817320;16903783;17022977;17081065;17110338;17127076;17139257;17240362;17272822;17284448;17289661;17296233;17332742;17342744;17397964;17400507;17569659;17601350;17620599;17636261;17643375;17683050;17725712;17765891;17785435;17876681;17878160;17893145;17929041;17934269;17947705;17954934;17955473;17979178;18094050;18097041;18172692;18231578;18261988;18299791;18307834;18367605;18380807;18408180;18434395;18457437;18493267;18500754;18537972;18550537;18573886;18600213;18635949;18667436;18684711;18685789;18772114;18781797;18977241;18988734;19009367;19014922;19019082;19028452;19041431;19056482;19056867;19098309;19110265;19148187;19167051;19193609;19233847;19254810;19275587;19287380;19321452;19338310;19380743;19394292;19397879;19471022;19551494;19578796;19596686;19686046;19738201;1975516;19800331;19802014;19815544;19826009;19875381;19912576;19913121;19931244;19946888;20003465;20018937;20020773;20026656;20032463;20039095;20053985;20084477;20164180;20176811;20195357;20300519;20308691;20391533;20457599;20458337;20471030;20473970;20516061;20516149;20540933;20618441;20628086;20639865;20642807;20675402;20729196;20804732;20806039;20884878;20930503;20953179;20972266;21050049;21103899;21139048;21145461;21148293;21150129;21182203;21182205;21183741;21233200;21252943;21319273;21360678;21382349;21423662;21454478;21487019;2155506;21565169;21565611;21575865;21693764;21697503;21719532;21738476;21763498;21832061;21853274;21890473;21900206;21906983;21911421;21942715;21963094;21987572;21988832;22039833;22053931;22074182;22079093;22090113;22170045;22178446;22234250;22268729;22337587;22365833;22505724;22536838;22623428;22645275;22743058;22776201;22842575;22843682;22863883;22904065;22939629;23000965;23018488;23042605;23065205;23065523;23071649;23084401;23125841;23184937;23217712;23224638;23235156;23246001;23333597;23349634;23383273;23398456;23431407;23434281;23443559;23455922;23482560;23539416;23569223;23695238;23703321;23824909;23825951;23862649;23865999;23880665;23948933;23956138;23990462;24030972;24056538;24147044;24175631;24239288;24244333;24250222;24260102;24327656;24332808;24361989;24457600;24515614;24548631;24550385;24583282;24657165;24816145;24891511;25015289;25027693;25036637;2966179;3037489;7545947;7559589;7578144;7639722;7673249;7826371;7906708;8125298;8530083;8663341;8713105;8729618;8892974;8940078;9235949;9269769;9305631;9463375;9675148;9694898;9738006;9774640;9830037;9873016 3312 A8K7Q2;E9PI65;E9PK54;E9PKE3;E9PLF4;E9PM13;E9PN25;E9PN89;E9PNE6;E9PPY6;E9PQK7;E9PQQ4;E9PS65;P11142;Q53HF2;V9HW22 AB034951;AB073886;ABBA01031277;AF217511;AF352832;AK000571;AK096100;AK129885;AK222628;AK222785;AK292067;AK300404;AK303935;AK310467;AMYH02025709;AP000926;BC007276;BC008907;BC015699;BC016179;BC016660;BC019816;BC042163;CH471065;DC312904;DC395565;EU668349;FJ224294;NG_029473;NM_006597;NM_153201;XM_006718831;Y00371 AAF67622;AAH07276;AAH08907;AAH15699;AAH16179;AAH16660;AAH19816;AAK17898;ABM82071;ABM85251;ACF94502;ACI45986;BAA91262;BAB18615;BAD96348;BAD96505;BAF84756;BAG53212;BAG62134;BAG64863;CAA68445;EAW67539;EAW67540;EAW67541;EAW67542;NP_006588;NP_694881;P11142;XP_006718894 Hs.180414 1667763;1684136;1701086;2116590;5016814;5113611 HSPA8;RH104170;RH27394;SHGC-8020;SHGC-8077;WI-12733 HEL-33;HEL-S-72p;HSC54;HSC70;HSC71;HSP71;HSP73;HSPA10;LAP-1;LAP1;MGC131511;MGC29929;NIP71 LPS-associated protein 1;N-myristoyltransferase inhibitor protein 71;OTTHUMP00000231743;OTTHUMP00000231744;OTTHUMP00000231745;OTTHUMP00000231746;OTTHUMP00000231747;OTTHUMP00000231749;constitutive heat shock protein 70;epididymis luminal protein 33;epididymis secretory sperm binding protein Li 72p;heat shock 70kD protein 8;heat shock 70kd protein 10;heat shock cognate 71 kDa protein;heat shock cognate protein 54;heat shock cognate protein, 71-kDa;heat shock protein 8;lipopolysaccharide-associated protein 1 APPROVED protein-coding ENSG00000109971 HGNC:5241 07205 600816 REVIEWED 7204987 HSPA8P9 heat shock 70kDa protein 8 pseudogene 9 3 3 3 q22.3 136023721 136025247 + 137599052 137600534 + 137880210 137881692 + 402143 ABBA01059099;AC117478;AMYH02007763;NG_022275 pseudo HGNC:44924 INFERRED 7204989 HSPA8P8 heat shock 70kDa protein 8 pseudogene 8 7 7 7 p21.3 10466090 10468354 + 10490863 10493127 + 10451236 10453500 + 12690205;9847074 100287551 ABBA01056547;AC009945;AMYH02015223;CH236948;NG_005513 EAL24298;EAL24299 pseudo HGNC:44923 INFERRED 1349371 HSPA9A heat shock 70kDa protein 9A (mortalin-1) 23707 HGNC:5243 6481451 HSPA9P2 heat shock 70kDa protein 9 pseudogene 2 18 18 26836455 26837039 - 29256490 29257074 - 100873903 ABBA01022544;AC105245;AMYH02034482;NG_032192 pseudo HGNC:31733 INFERRED 1354470 HSPB1P1 heat shock 27kDa protein 1 pseudogene 1 9 9 9 q21.13 45195382 45195758 - 74622675 74623051 - 72007759 72008135 - 12838549;2538929 653553 ABBA01033846;AL138751;AMYH02020972;NG_013115 2140619 G26375 HSPBL2 APPROVED pseudo HGNC:5251 INFERRED 1345010 HSPB1P2 heat shock 27kDa protein 1 pseudogene 2 X X X p11.23 52573370 52574107 + 49090262 49090999 - 49233800 49234540 - 2538929 653364 ABBA01046141;AC232271;AF235097;AMYH02039324;NG_008236;NG_009095;NG_021311 1339854;1754167;7186118 DXS1208;SHGC-132193 HSPBL3 APPROVED pseudo HGNC:5252 INFERRED 1345374 HSPB11 heat shock protein family B (small), member 11 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN cell adhesion (inferred); heart development (inferred); left/right axis specification (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 p32 52674924 52698976 - 54387234 54411975 - 53921561 53946302 - 737633;6480464 12477932 11042152;15489334;16189514;17207965;17275951;18154656;19253336;2018407;21139048;21906983;8125298 51668 A6NG08;A6NIR2;Q9Y547;X6R7Y7 ABBA01074729;AF100747;AF416725;AF417114;AK225916;AL031427;AMYH02001043;BC005245;BC045699;CH471059;L32869;NM_016126;X79302;XM_005270942;XM_005270943 AAD43011;AAH05245;AAQ03618;AAQ03994;ADQ32445;EAX06717;EAX06718;EAX06719;NP_057210;Q9Y547;XP_005270999;XP_005271000 Hs.525462;Hs.624686 1848259;2112392;5016596;5022200;5022322;5022578;5117897 D11S2560;D1S1423;D1S3673;GDB:631802;GDB:631813;L18426;RH45204 C1orf41;HSPCO34;IFT25;PP25 OTTHUMP00000010053;OTTHUMP00000010084;OTTHUMP00000010085;heat shock protein beta-11;intraflagellar transport 25 homolog;intraflagellar transport protein 25 homolog;placental protein 25 protein-coding ENSG00000081870 HGNC:25019 PROVISIONAL 1323451 HSPA9 heat shock 70kDa protein 9 (mortalin) This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010] 5 5 5 q31.1 134012432 134033183 - 137890571 137911318 - 138554882 138575629 - 1580863;6480464;6784530;6784529;6784531;6784528;6784525;6907045;6784518 16565515;18219256;19657588;20817635;21542017;7629893 10411904;10510314;10617616;10838077;10964507;11187902;11790298;11869473;11900485;11932435;12009301;12470827;12477932;12493773;12646231;12729798;12827241;12832005;1286669;14702039;15324660;15489334;15520177;15635413;15957980;16130169;16176931;16196087;16212417;16236267;16329989;16335966;16344560;16425258;16619038;17050040;17184779;17400507;17460192;17573779;17601350;17620599;17635236;17643375;17719568;17934217;17955473;17979178;18029348;18063578;18770009;18781797;18829503;18977241;19167051;19275587;19280369;19343720;19380743;19394292;19596686;19659607;19738201;19739077;19765186;19875381;19940151;20000738;20053669;20100649;20152901;20153329;20171186;20186120;20195357;20199942;20391533;20392697;20473970;20805357;20856200;20877624;20974113;21081666;21139048;21145461;21145877;21233847;21252943;21319273;21496427;21530495;21565611;21640711;21714113;21738007;21738476;21763498;21825151;21832049;21890473;21906983;21907836;21963094;21965664;21987572;21988832;22001761;22013042;22022577;22079093;22114354;22162012;22178446;22266860;22268729;22340593;22366412;22505724;22544056;22586326;22683628;22863883;22904065;22939629;23084401;23125841;23182727;23184937;23246001;23254330;23284715;23319326;23349634;23398456;23438482;23443559;23455922;23462535;23473034;23520075;23541579;23589050;23665506;23798571;23948933;23959801;24030972;24050266;24190572;24244333;24250222;24449167;24457600;24583282;24654937;24816145;25015289;25027693;7684501;7698336;7829505;7906708;8076819;8125298;8313870;9150948 3313 D6RA73;D6RCD7;D6RDH7;D6RJI2;H0Y8K0;H0Y8S0;H0YBG6;P38646 ABBA01068666;ABBA01068667;AC011385;AC113340;AK023317;AK222758;AK225488;AK293990;AK297795;AK297897;AK315177;AMYH02012297;AU130219;BC000478;BC024034;BC030634;BX426279;CH471062;DC356852;DQ185038;DQ480334;DQ531046;FJ224291;L11066;L15189;NG_029469;NM_004134 AAA67526;AAH00478;AAH24034;AAH30634;ABD14419;ABF19573;ABF50973;ABZ92510;ACI45983;ADZ15587;BAD96478;BAG37618;BAH11643;BAH12669;BAH12688;EAW62128;EAW62129;NP_004125;P38646 Hs.184233 1683930;1688310;1744291;1773456;1797716;2140510;2140717;5016478;5022578;5022649;5022651;5091116;5091323 A002P41;Bda02f10;D11S2875;D11S2921;D1S1423;D5S1564E;D5S2414;GDB:434012;GDB:451580;HSPA9B_1300;RH47439;RH67940;RH69016 CRP40;CSA;GRP-75;GRP75;HEL-S-124m;HSPA9B;MGC4500;MOT;MOT2;MTHSP75;PBP74;mot-2 75 kDa glucose-regulated protein;OTTHUMP00000159494;catecholamine-regulated protein 40;epididymis secretory sperm binding protein Li 124m;heat shock 70 kDa protein 9;heat shock 70kD protein 9B;heat shock 70kda protein 9b (mortalin-2);mortalin, perinuclear;mortalin-2;p66-mortalin;peptide-binding protein 74;stress-70 protein, mitochondrial APPROVED protein-coding ENSG00000113013 HGNC:5244 02770 600548 REVIEWED 1343256 HSPB6 heat shock protein, alpha-crystallin-related, B6 This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012] 19 19 19 q13.12 32958948 32961408 - 36245467 36247930 - 35754566 35757029 - 1580863;6480464 12477932;12820654;12842460;14702039;14717697;15057824;15489334;1602151;16225851;17084643;17109079;18755793;18787533;18790732;19464326;19491193;19646995;19845507;19850943;21081103;21641913;21731611;21803775;21905118;21978388;22427880;22450169;22731613;22794279;23824909;24223153;8195168 126393 K7EP04;O14558;V9HWB6 ABBA01018763;ABBA01018764;AC002398;AJ278121;AK026458;AK056951;AK297852;AMYH02035990;BC068046;EU794622;NG_031983;NM_144617 AAB81196;AAH68046;ACJ13676;BAB71323;BAG60184;CAC81952;NP_653218;O14558 Hs.534538;Hs.744178 1693526;1847945;2166206;2219146 D19S615E;HSPB6__6602;RH78604;SHGC-58724 FLJ32389;HEL55;Hsp20;PPP1R91 OTTHUMP00000045795;epididymis luminal protein 55;heat shock 20 kDa-like protein p20;heat shock protein beta-6 APPROVED protein-coding ENSG00000004776 HGNC:26511 08130 610695 REVIEWED 1353927 HSPA9P1 heat shock 70kDa protein 9 pseudogene 1 2 2 2 q36.3 216594567 216597354 + 222826389 222829176 + 221961670 221964457 + 9847074 266724 ABBA01023820;AC009302;AMYH02005855;NG_002380 1773456;5091116 D5S2414;RH69016 HSPA9BP;HSPA9P heat shock 70kda protein 9b pseudogene APPROVED pseudo HGNC:24915 INFERRED 5133078 HSPB2-C11orf52 HSPB2-C11orf52 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring heat shock 27kDa protein 2 (HSPB2) and chromosome 11 open reading frame 52 (C11orf52) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) based on the use of the supported HSPB2 translational start codon, and it is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 11 11 q 111783460 111797595 + 111912736 111926871 + 6480464 12477932;20967262 100528019 E9PN16 ABBA01039810;ABBA01039811;AK293041;AMYH02025576;AP000907;BC110872;KF455510;NG_009824;NR_037651 AAI10873;BAF85730 Hs.97013 5492765;5493475 UniSTS:482396;UniSTS:486646 FLJ77220;MGC131888 APPROVED ncrna HGNC:41996 VALIDATED 68484 HSPB3 heat shock 27kDa protein 3 This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010] 5 5 5 q11.2 50705068 50705830 + 53751431 53752214 + 54455601 54456384 + 1302323;1580863;6480464;7240710;8554872;8699517 9858786 10625651;12477932;16169070;16225851;19464326;20142617;22610661;8972725 8988 Q12988;Q6ICS9 ABBA01015727;AC092366;AK314215;AMYH02011302;BC126272;BC132869;BX106905;CH471123;CR450314;N74672;NG_027758;NM_006308;U15590;Y17782 AAD05360;AAI26273;AAI32870;ADR82829;BAG36889;CAA76848;CAG29310;EAW54893;NP_006299;Q12988 Hs.41707 1679303;1797720;2126675;2220446;5493497 HSPB3_202;RH65243;UniSTS:482422;UniSTS:486904;UniSTS:494604 DHMN2C;HMN2C;HSP 17;HSPL27 OTTHUMP00000122478;heat shock 17 kDa protein;heat shock 27kD protein 3;heat shock protein beta-3;protein 3 APPROVED protein-coding ENSG00000169271 HGNC:5248 06861 604624;613376 REVIEWED 1319285 HSPB9 heat shock protein, alpha-crystallin-related, B9 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH disodium selenite; pirinixic acid; silver(1+) nitrate 17 17 17 q21.2 36929793 36930408 + 40274756 40275371 + 42122738 42123353 + 1580863;6480464;8554872 11470154;12477932;12820654;14702039;15489334;15503857;19464326;5503857 94086 Q9BQS6 ABBA01006436;AC105024;AJ302068;AK093488;AK130947;AMYH02033425;BC093991;BC093993;BX280091;CH471152;NM_033194 AAH93991;AAH93993;BAG52728;CAC35727;EAW60804;NP_149971;Q9BQS6 Hs.620611 2220644 UniSTS:486977 CT51;FLJ27437 OTTHUMP00000164757;cancer/testis antigen 51;heat shock protein beta-9;small heat shock protein B9 protein-coding HGNC:30589 16319 608344 VALIDATED 736091 HSPB7 heat shock 27kDa protein family, member 7 (cardiovascular) ENCODES a protein that exhibits filamin binding (inferred); protein C-terminus binding (inferred); INVOLVED IN regulation of heart contraction (inferred); response to unfolded protein (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; (R)-pantothenic acid; copper(2+) sulfate 1 1 1 p36.23-p34.3 14820429 14825190 - 16340523 16346084 - 16014028 16018790 - 61631;1580863;6480464;8554872 10593960 12477932;14594798;14702039;15489334;16189514;16710414;19464326;19913121;20038796;20124441;20628086;20877624;20975947;21731611;21832049;22785082 27129 C9J5A3;D3YTC6;Q68DG0;Q8N241;Q9UBY9 ABBA01004687;AF155908;AJ243191;AK057295;AK075151;AK092275;AK095911;AL096775;AL355994;AL832181;AMYH02000377;BC006319;BX537990;CH471167;CR749298;CR749419;NM_014424 AAF20022;AAH06319;ABM83642;ABM86892;ABW03834;ACE86687;ACE87371;BAC03846;BAG51899;BAG52075;CAB63258;CAB86671;CAD97949;CAH18153;CAH18260;EAW51760;EAW51761;EAW51762;NP_055239;Q9UBY9 Hs.502612 1796022;1849315;2160563;2171032 HSPB7_990;SHGC-74268;SHGC-74270;SHGC-74273 DKFZp779D0968;FLJ32733;cvHSP OTTHUMP00000011122;OTTHUMP00000011123;OTTHUMP00000011124;OTTHUMP00000011125;OTTHUMP00000215420;cardiovascular heat shock protein;heat shock 27kD protein family, member 7 (cardiovascular);heat shock protein beta-7 protein-coding ENSG00000173641 HGNC:5249 13684 610692 VALIDATED 1347241 HSPBL1 heat shock 27kDa protein-like 1 2538929 3317 HGNC:5250 731772 HSPB2 heat shock 27kDa protein 2 The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The protein is expressed preferentially in the heart and skeletal muscle. This protein regulates Myotonic Dystrophy Protein Kinase, which plays an important role in maintenance of muscle structure and function. [provided by RefSeq, Dec 2012] 11 11 11 q22-q23 108936668 108938025 + 111783460 111784817 + 111912736 111914093 + 70771;1580863;6480464 9344664 10625651;11003656;11313745;11342557;11697892;11926998;12473058;12477932;12503731;12510153;12601044;12611892;12700631;12705895;12748284;12829720;12832059;12897149;14594798;14729728;14963027;15489334;16598774;16598923;17524270;17916352;17974989;18029348;18061943;18299320;18387368;18390793;18440775;18471985;18494762;18566345;18624915;18651163;18701018;18755499;18950704;19132982;19224398;19238749;19325007;19331697;19429074;19464326;19513626;19520919;19597476;19656912;19680556;19901540;19930842;20043073;20065497;20087649;20101233;20336542;20378664;20456980;20592365;21245386;21258768;21905118;22178446;22272249;23155000;23188086;23532854;24831009;24859470;8227983;9490724;9628874;9687510 3316 A8KAH6;Q16082 AB096250;ABBA01039810;ABBA01039811;AI131288;AMYH02025576;AP000907;AY208910;BC109393;CH471065;CR457408;D89617;EF444955;EF444984;KF455510;NG_009824;NG_033080;NM_001541;S67070;U75898 AAB28816;AAB82757;AAI09394;AAO18081;ACA05948;ACA06000;BAA24004;CAG33689;EAW67168;EAW67169;NP_001532;Q16082 Hs.709660 1657181;1737801;1742511;1791744;1797718;2127704;5492765;5493475 D11S3407;GDB:197835;HSPB2_2418;PMC123035P1;STS-S67070;UniSTS:482396;UniSTS:486646;WI-17363 HSP27;Hs.78846;LOH11CR1K;MGC133245;MKBP DMPK-binding protein;OTTHUMP00000234293;heat shock 27kD protein 2;heat shock protein beta-2;heat-shock protein beta-2 protein-coding HGNC:5247 03712 602179 REVIEWED 1348479 HSPCP2 heat shock 90kDa protein 1, beta pseudogene 2 3328 HGNC:5260 732480 HSPB1 heat shock 27kDa protein 1 The protein encoded by this gene is induced by environmental stress and developmental changes. The encoded protein is involved in stress resistance and actin organization and translocates from the cytoplasm to the nucleus upon stress induction. Defects in this gene are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). [provided by RefSeq, Oct 2008] 7 7 7 q11.23 70800374 70802113 + 75931875 75933614 + 76302558 76304297 + 1580863;6480530;6480464;1304397;6907045;7240710;8554872;8699517 11746764;12834255 10383393;10421803;10629618;10751411;10777697;10859165;10980706;11003656;11042204;11158571;11193028;11342557;11528513;11546764;11700327;11740592;11779227;11784858;11836590;11839738;11844797;12087068;12100179;12477932;12482203;12489163;12493773;12506142;12601044;12740362;12838549;12853948;12855565;12897149;12917439;1332886;14499342;14594798;14715258;15013707;15122253;15122254;15265704;15272315;15274119;15302935;15342556;15489334;15542604;15581903;1560006;15649839;15662019;15692053;15728188;15731106;15790570;15806174;15952740;15969449;15976317;1602151;16039988;16087758;16097034;16114012;16126176;16130169;16159877;16169070;16196087;16215937;16240287;16339078;16340246;16368711;16400691;16407830;16436384;16487519;16548883;16565220;16574891;16598774;16624816;16790501;16815975;16840786;16906418;16916647;16923754;16935933;16964243;17004241;17024176;17081983;17110338;17184779;17202147;17206383;17213227;17254968;17277149;1730670;17314511;17342744;17350752;17353931;17446863;17522120;17570131;17576382;17597071;17616692;17622316;17623298;17623484;1763035;17650072;17661346;17673262;17823891;17915561;17916631;17928890;17949744;17974989;18007587;18031542;18066588;18089808;18096692;18167130;18167217;18320359;18330356;18344398;18390476;18418731;18423118;18440775;18442089;18457437;18465403;18472181;18477563;18573886;18587268;18692580;18720982;18781797;18800238;18832141;18949417;18950704;18952241;19020532;19056867;19088045;19176359;19214136;19275587;19335999;19350847;19373869;19384818;19461484;19464326;19506078;19540014;19596686;19597476;19615732;19643972;19651786;19656944;19675578;19707199;19738201;19767773;19842058;19952398;19955928;19961396;20007907;20054128;20093746;20149037;20178975;20209605;20231684;20299368;20301462;20301532;20304146;20363977;20378850;20382164;20385876;20410505;20439495;20462503;20491124;20514530;20540527;20557877;20618440;20694452;20694586;20714862;20863832;21081267;21084594;21107776;21119665;21139048;21145461;21150319;21157431;21208199;21245386;21335933;21423207;21427224;21469165;21514288;21565611;21566277;21585617;21641913;21670152;21679777;21731611;21784846;21800051;21853274;21888831;21905118;21906983;21909836;21931298;21937138;21961414;21963094;21967197;21983720;21987572;21988832;21989268;22004109;22019951;22023707;22031759;22031878;22032827;22050627;22057845;22114076;22176143;22178446;22179576;22185976;22210387;22238643;22264079;22272318;22304920;22350794;22360420;22362414;22365833;2243808;22465083;22521462;22534325;22535481;22569359;22608953;22623428;22647853;22677112;22734906;22742457;22886594;22887120;22907762;22939629;2295696;22971995;22974980;22982087;22993064;23000965;23026841;23080524;23155000;23165430;23185379;23188086;23246001;23264215;23357534;23374503;23383273;23402259;23404246;23425286;23438482;23443559;23453029;23459991;23469976;23492367;23530064;23532854;23576398;23667531;23728742;23767669;23804239;23826100;23848600;23853530;23948568;23996744;24061637;24113772;24126416;24222130;24239511;24252613;24280570;24308965;24332808;24337577;24391005;24391762;24403454;24457600;24550385;24583282;24654937;24657165;24660549;24686082;24715760;24748206;24804299;24831009;24879379;24982356;25027693;25036637;2743305;3714473;7799959;8093612;8325890;8619474;8774846;9110174;9344682;9514881;9628874;9873047 3315 C9J3N8;F8WE04;P04792;V9HW43 AB020027;ABBA01005913;AC006388;AK296890;AK311446;AK311894;AL050380;AMYH02016084;BC000510;BC012292;BC012768;BC014920;BC073768;BP231480;BT019888;CH471220;CR407614;CR536489;DQ379985;FJ224323;JC231884;L39370;NG_008995;NM_001540;S74571;U90906;X16477;X54079 AAA62175;AAB20722;AAB51056;AAH00510;AAH12292;AAH12768;AAH14920;AAH73768;AAV38691;ABC88475;ABM82230;ABM84275;ABM85415;ABM87668;ACI46015;BAB17232;BAG34835;BAG59449;CAA34498;CAA38016;CAG28542;CAG38728;CDM22284;EAW71803;NP_001531;P04792 Hs.520973 1335509;1342116;2140619 D7S2204;D7S2435;G26375 CMT2F;DKFZp586P1322;HEL-S-102;HMN2B;HS.76067;HSP 27;HSP27;HSP28;Hsp25;SRP27 28 kDa heat shock protein;OTTHUMP00000161096;epididymis secretory protein Li 102;estrogen-regulated 24 kDa protein;heat shock 27 kDa protein;heat shock 27kD protein 1;heat shock protein beta-1;stress-responsive protein 27 APPROVED protein-coding ENSG00000106211 HGNC:5246 09076 602195;606595;608634 REVIEWED 1343669 HSPCAL4 heat shock 90kDa protein 1, alpha-like 4 1740332 3325 HGNC:5257 2301501 HSPD1P1 heat shock 60kDa protein 1 (chaperonin) pseudogene 1 5 5 5 p14.3 21749805 21752050 + 21882626 21884875 + 21882517 21884766 + 20193073 643300 ABBA01066588;AC138940;AMYH02011007;NG_008757 HSPD1-2P pseudo HGNC:35133 INFERRED 1346187 HSPB8 heat shock 22kDa protein 8 The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008] 12 12 12 q24.23 119249740 119265695 + 119616595 119632551 + 119178790 119194746 + 1580863;6480464;7240710;8554872 10777663;10833516;11085516;11180006;11230166;11256614;11295034;11342557;11470154;11591653;11816564;12456486;12477932;12832417;14594798;14702039;14985082;15021985;15122253;1517763;15489334;15498874;15541337;15879436;16086267;16189514;16225851;16485107;16709864;16795043;16935933;17033167;17173073;17304582;17722063;17922839;18006506;18006821;18094623;18229450;18298377;18676680;19170196;19246680;19464326;19625176;19692168;19783089;19845507;20157854;20237496;20301462;20301532;20570967;20819778;20858900;21526341;21678403;21696420;21731611;21767525;21905118;21914495;21963094;21983727;21985219;22176143;22302993;22595202;22898869;22939629;24324551;24337577;24804817;25036637;3022865;3789668;5813127;7125978;8433103;8817349 26353 H0YG30;Q9UJY1 ABBA01020071;AC084880;AF133207;AF191017;AF217987;AF250138;AK001825;AK312501;AL136936;AMYH02027340;BC002673;BT006876;CH471054;CR533453;NG_007953;NM_014365 AAD55359;AAF09481;AAF65562;AAG17230;AAH02673;AAP35522;ABM87403;ABW03880;BAG35403;CAB66870;CAG38484;EAW98144;NP_055180;Q9UJY1 Hs.400095 1342084;1664692;2157710 A002J47;D12S76;SHGC-56631 CMT2L;DHMN2;E2IG1;H11;HMN2;HMN2A;HSP22 E2-induced gene 1 protein;OTTHUMP00000239768;alpha-crystallin C chain;heat shock 27kDa protein 8;heat shock protein beta-8;protein kinase H11;small stress protein-like protein HSP22 APPROVED protein-coding ENSG00000152137 HGNC:30171 06420 158590;608014;608673 REVIEWED 2301275 HSPD1P12 heat shock 60kDa protein 1 (chaperonin) pseudogene 12 12 12 12 p13.31 9744621 9746373 + 8167556 8169307 + 8014960 8016711 + 20193073 283320 ABBA01012232;AC006511;AMYH02025987;NG_003217 HSPD1-10P pseudo HGNC:35140 INFERRED 3028763 HSPD1P13 heat shock 60kDa protein 1 (chaperonin) pseudogene 13 11 11 11 102741823 102742776 + 105577592 105578545 + 105706866 105707819 + 11237011;15496913;16554811;20193073 100462987 ABBA01039900;AMYH02025513;AP000641;NG_023061 HSPD1-16P pseudo HGNC:35138 INFERRED 3231841 HSPD1P14 heat shock 60kDa protein 1 (chaperonin) pseudogene 14 1 1 1 p35.1 32575873 32577489 + 34304122 34305738 + 33838521 33840137 + 20193073 100287140 ABBA01023373;AC116993;AL121980;AMYH02000737;NG_022774 1335854;1681103;1720551;1733044;1759067;1776670;2170369;2190801 AFM286zb1;D1S1397;D1S2783;D1S3152;G59229;LOC127540;RH98973;SHGC-150964 HSPD1-17P pseudo HGNC:35143 INFERRED 3497316 HSPD1P11 heat shock 60kDa protein 1 (chaperonin) pseudogene 11 5 5 5 q15 90983486 90985620 + 95104751 95106885 + 95769047 95771181 + 11237011;15372022;15496913;20193073 100359396 ABBA01069246;AC008840;AMYH02011822;NG_016480 1669039 L28220 HSPD1-11P pseudo HGNC:35142 INFERRED 3028765 HSPD1P16 heat shock 60kDa protein 1 (chaperonin) pseudogene 16 6 6 6 153760638 153760955 + 153026933 153027250 + 152705798 152706115 + 11237011;14574404;15496913;20193073 100462985 ABBA01025616;AL390960;AMYH02014742;NG_023060 HSPD1-13P pseudo HGNC:35128 INFERRED 734029 HSPBP1 HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 ENCODES a protein that exhibits enzyme inhibitor activity (inferred); INVOLVED IN positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein ubiquitination; PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; INTERACTS WITH atrazine; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.42 52815211 52832757 - 55773591 55791751 - 55262223 55280383 - 6480464;6907045 10786638;12417338;12477932;12651857;14503850;14702039;14761400;15215316;15489334;15694338;16169070;16169850;16189514;16207813;16303743;16341674;16677834;16713569;16831871;16950797;17208201;17855353;18261988;18986301;18987994;19183265;19380743;19659607;20694586;21139048;21247889;21832049;21890473;21963094;22037021;22505724;22863883;23349634;24454860;24654937;24816145;25036637;9727490;9830037 23640 K7EKM6;K7EL16;K7EMM7;K7EN20;K7EQQ0;K7ERT9;Q9NZL4 AB020592;ABBA01068112;ABBA01068113;ABBA01068114;AC008974;AC116338;AC116342;AF093420;AF187859;AF217996;AI859141;AK075293;AK129755;AK130636;AK130781;AK294358;AMYH02036457;BC001236;BC002373;BM853303;BU630679;CH471135;CQ783429;CR457118;DB500673;NM_001130106;NM_001297600;NM_012267;XM_005258700;XM_005258701;XM_005258703 AAC79703;AAF35833;AAG17238;AAH01236;AAH02373;ABM84496;ABM85350;ABW03719;BAB18742;BAC85399;BAG52102;BAG57622;CAF86633;CAG33399;EAW72355;EAW72356;EAW72357;EAW72358;NP_001123578;NP_001284529;NP_036399;Q9NZL4;XP_005258757;XP_005258758;XP_005258760 Hs.53066 2130696 STS-AA012918 FES1;hspBP2 Hsp70 binding protein 1;heat shock protein-binding protein 1;hsp70 interacting protein;hsp70-binding protein 1;hsp70-binding protein 2;hsp70-interacting protein 1;hsp70-interacting protein 2 protein-coding ENSG00000133265 HGNC:24989 09991 612939 VALIDATED 3028764 HSPD1P17 heat shock 60kDa protein 1 (chaperonin) pseudogene 17 10 10 10 44235029 44235169 + 50648862 50649002 + 49440816 49440956 + 11237011;15164054;15496913;20193073 100462986 ABBA01041071;AL138760;AMYH02022985;NG_023064 HSPD1-19P pseudo HGNC:35147 INFERRED 3497315 HSPD1P18 heat shock 60kDa protein 1 (chaperonin) pseudogene 18 5 5 5 q31.1 131841459 131841954 - 135716704 135717199 - 136381016 136381511 - 11237011;15372022;15496913;20193073 100359397 ABBA01068717;AC063980;AMYH02012263;NG_016481 HSPD1-1P pseudo HGNC:35136 INFERRED 3077860 HSPD1P15 heat shock 60kDa protein 1 (chaperonin) pseudogene 15 5 5 5 p14.3 19895236 19896409 + 19233475 19234648 + 19233366 19234539 + 20193073 646273 ABBA01054558;AC106803;AMYH02010977;NG_016584 HSPD1-15P pseudo HGNC:35130 INFERRED 3563938 HSPD1P10 heat shock 60kDa protein 1 (chaperonin) pseudogene 10 6 6 6 q15 88427163 88428835 + 88008490 88010162 + 87298772 87300444 + 20193073 644016 ABBA01040492;AL096817;AL160258;AMYH02014053;NG_021117 HSPD1-4P pseudo HGNC:35131 INFERRED 2946602 HSPD1P19 heat shock 60kDa protein 1 (chaperonin) pseudogene 19 20 20 20 53412727 53415779 + 56672278 56675330 + 58097222 58100274 + 11237011;11780052;15496913;20193073 100463288 ABBA01052938;AL354984;AMYH02037359;NG_023062 HSPD1-18P pseudo HGNC:38590 INFERRED 3028762 HSPD1P20 heat shock 60kDa protein 1 (chaperonin) pseudogene 20 12 12 12 80066346 80066934 - 80399767 80400355 - 80005987 80006575 - 11237011;15496913;16541075;20193073 100462989 ABBA01053498;AC074270;AMYH02026820;NG_023065 HSPD1-20P pseudo HGNC:38591 INFERRED 3028761 HSPD1P21 heat shock 60kDa protein 1 (chaperonin) pseudogene 21 20 20 20 40877134 40877445 - 44168614 44168925 - 45539975 45540286 - 11237011;11780052;15496913;20193073 100462990 ABBA01052660;AL031663;AMYH02037151;NG_023059 HSPD1-3P pseudo HGNC:38592 INFERRED 4892149 HSPD1P22 heat shock 60kDa protein 1 (chaperonin) pseudogene 22 5 5 5 57954829 57955275 - 60958673 60959119 - 61662846 61663292 - 11237011;15372022;15496913;20193073 100462984 ABBA01048371;AC026746;AMYH02011382;NG_023066 1681885 RH92005 HSPD1-21P pseudo HGNC:39502 INFERRED 1352308 HSPBAP1 HSPB (heat shock 27kDa) associated protein 1 This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011] 3 3 3 q21.1 120868679 120922738 - 122458844 122512666 - 122739997 122793819 - 6480464 11978969;12477932;14702039;16169070;17568411;21900206;21906983 79663 A8K045;Q96EW2 ABBA01016466;ABBA01016467;AC048348;AF400663;AK026276;AK096705;AK289410;AMYH02007543;BC011897;BC017763;BC063629;BI912690;BU630355;CH471052;NG_030032;NM_024610;XM_005247761;XM_005247762 AAH11897;AAH17763;AAH63629;AAM64044;ABM83992;ABM87318;BAB15425;BAC04847;BAF82099;EAW79463;EAW79464;EAW79465;EAW79466;NP_078886;Q96EW2;XP_005247818;XP_005247819 Hs.29169 1672182;1776773;2161923;2181153 L17658;RH17570;RH78844;SHGC-34248 FLJ22623;FLJ39386;PASS1 27 kDa heat shock protein-associated protein 1;HSPB1-associated protein 1;OTTHUMP00000215800;heat shock 27 kDa associated protein;protein associated with small stress protein 1;protein associating with small stress protein PASS1 APPROVED protein-coding ENSG00000169087 HGNC:16389 12197 608263 REVIEWED 1351221 HSPD1P3 heat shock 60kDa protein 1 (chaperonin) pseudogene 3 8 8 8 p23.1 7091408 7098829 + 7248860 7278554 + 7391338 7421032 + 1980192;20193073 3332 AC130360;AC243982;AF252830;M34660;M34661;M34663;NG_001145 HSP60P1;HSP60P3;HSP60P4;HSPD1-7P;HSPDP1;HSPDP3;HSPDP4 pseudo HGNC:5264 INFERRED 1346956 HSPD1P6 heat shock 60kDa protein 1 (chaperonin) pseudogene 6 3 3 3 p22.2 36751028 36753115 - 36808134 36810378 - 36766643 36768887 - 1980192;20193073 645548 ABBA01024868;AC105749;AMYH02006549;NG_008828 HSPD1-6P;HSPDP6 pseudo HGNC:5267 INFERRED 2301488 HSPD1P4 heat shock 60kDa protein 1 (chaperonin) pseudogene 4 12 12 12 q13.3 56557846 56560095 + 56904725 56906974 + 56510941 56513190 + 20193073 644745 ABBA01008426;AC097104;AMYH02026570;NG_008756 HSPD1-5P pseudo HGNC:35146 INFERRED 1352375 HSPD1P2 heat shock 60kDa protein 1 (chaperonin) pseudogene 2 8 8 8 p23.1 1 499 + 7748121 7750279 - 7890599 7892757 - 1980192;20193073 645808 ABBA01170229;AC130365;AMYH02017345;M34662;NG_001146;NG_023301 HSP60P2;HSPD-9P;HSPDP2 pseudo HGNC:5263 INFERRED 1347192 HSPD1P7 heat shock 60kDa protein 1 (chaperonin) pseudogene 7 INTERACTS WITH arsane; arsenic atom 21 21 21 q21.3 15442583 15444931 - 30259308 30261656 - 28886986 28889334 - 6480464 10830953;20193073 54047 ABBA01057245;AF227510;AMYH02037685;NG_000920 HSPD1-22P;HSPDP7 pseudo HGNC:5268 INFERRED 2902551 HSPD1P9 heat shock 60kDa protein 1 (chaperonin) pseudogene 9 13 13 13 q13.3 19620753 19622673 - 38566784 38568902 - 37992647 37994765 - 20193073 646910 ABBA01021328;AL356495;AMYH02027886;NG_016588 HSPD1-14P pseudo HGNC:35132 INFERRED 2837641 HSPD1P8 heat shock 60kDa protein 1 (chaperonin) pseudogene 8 13 13 13 q31.1 60323694 60325671 + 79423366 79425343 + 78849231 78851208 + 20125193;20193073 647298 ABBA01021683;AL354869;AMYH02028335;NG_011337 HSPD1-12P pseudo HGNC:35145 INFERRED 1349707 HSPDP1 heat shock 60kDa protein 1 (chaperonin) pseudogene 1 p23.1 1980192 3330 M34660;NG_001145 HSP60P1 pseudo HGNC:5262 1353921 HSPDP4 heat shock 60kDa protein 1 (chaperonin) pseudogene 4 1980192 3333 M34663;NG_001148 HSP60P4 pseudo HGNC:5265 1354138 HSPE1P1 heat shock 10kDa protein 1 pseudogene 1 20 20 20 q12 35272063 35272380 - 38561564 38561881 - 39932922 39933239 - 140895 ABBA01052555;AL133419;AMYH02037075;NG_001006 HSPEP1;bA101E14.1 APPROVED pseudo HGNC:16530 INFERRED 733895 HSPD1 heat shock 60kDa protein 1 (chaperonin) This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010] 2 2 2 q33.1 192107181 192120871 - 198351308 198364998 - 197486584 197500274 - 1624212;1580863;1624216;1624229;1624218;1624228;1624230;1624200;1624204;1581882;1624213;1624232;1624234;1624236;1624240;1624244;1624243;1624250;1624217;1624233;1624238;1624246;6480464;6907045;7240710;8554872;8699517 11222468;11898127;12059985;12872233;12921987;14753490;15529360;15729290;15802185;15804863;15961182;15964663;16092147;16288780;16483253;16579988;16675490;17070529;17202668;17280490;17439344 10205158;10205159;10231001;10231004;10326659;10382997;10449265;10467106;10499815;10508170;10632533;10663613;10677329;10731000;10811634;10960671;11050098;11144526;11145923;11230124;11337467;11445587;11488911;11591125;11689615;11777905;11790298;11807771;11860186;11862386;11888933;11932435;12070120;12105158;12195124;12215374;12218165;12234937;12387818;12406306;12461076;12477932;12483302;12493773;12515899;12552239;12594256;12611882;12665801;12684064;12686536;12768547;12813381;1286669;12869561;12890148;12942564;12965262;1347942;14500649;14634555;14717702;14968112;15047060;1516759;15242332;15249499;15251360;15324660;15371451;15489334;15546885;15590416;15592455;15618521;15635413;15661886;15763499;15784682;15875659;15879154;15952740;15957980;16009940;1602151;16075307;16116071;16130169;16148103;16159877;16196087;16212417;16215457;16236267;16253146;16254226;16320351;16335966;16482509;16705742;16723087;16767222;16843693;16887805;16964243;16978514;17072495;17075864;17110338;17148442;17164250;17174952;17202307;17206383;17314511;17317785;17420921;17420924;17540176;17550899;17553457;17584768;17588138;17643375;17670764;17675567;17681147;17823127;17915559;17925998;18029348;18086682;18229457;18240224;18256040;18319262;18320357;18322079;18372523;18399535;18400758;18457437;18458233;18571143;18685789;18692161;18781797;18790094;18815895;18987317;19004824;19008717;19022255;19056867;19106391;19109096;19110265;19132982;19156129;19205928;19207939;19210880;19261350;19264393;19306954;19336475;19338310;19343720;19346294;19369584;19380743;19386281;19423133;19471022;19475432;19565483;19568603;19576649;19635199;19706612;1972619;19738201;19764566;19765186;1980192;19875724;19913588;19946888;20082317;20169074;20186120;20193073;20301682;20351780;20362058;20471030;20639865;20686813;20694586;20708221;2079031;20806039;20877624;20936779;20947377;20953657;20972266;20978188;21081666;21139048;21145461;21319273;21361146;21497776;21642380;21671464;21717087;21726808;21748374;21832049;21840382;21853274;21890473;21906983;21963094;21987572;21988832;22012253;22079093;22140545;22178446;22258649;22268729;22304920;22315307;22319627;22492505;22505724;22575645;22623428;22751105;22753410;22810585;22847064;22848686;22863883;22882677;22901435;22904065;22931585;22933632;22939629;22944692;23000965;23028910;23077236;23125841;23184937;23192457;23246001;23276948;23349634;23357787;23364796;23388486;23398456;23424650;23429486;23438482;23439083;23443559;23455922;23466130;23798571;23807299;23823174;23862649;23874603;24015183;24084737;24099319;24113772;24123003;24244333;24250222;24337577;24457600;24583282;24591637;24639526;24654937;24680363;24816145;25015289;25027693;2568584;2907406;7518175;7895732;7907543;7911805;8559246;8671282;8676499;8678928;8689794;8845058;8882520;8976559;8979276;9051195;9150946;9150948;9243807;9724719;9890926 3329 C9J0S9;C9JCQ4;C9JL19;C9JL25;E7ESH4;E7EXB4;F8WBB1;P10809 ABBA01062482;AC010746;AC020550;AC114809;AF380943;AJ250915;AK297305;AK298368;AK298632;AK298844;AK301276;AK312240;AMYH02005522;AU098504;BC002676;BC003030;BC047350;BC067082;BC073746;BG701476;BX647145;CH471063;CS611909;DQ217936;EU719626;M22382;M34664;NG_008915;NM_002156;NM_199440;XM_005246518 AAA36022;AAA60127;AAH02676;AAH03030;AAH67082;AAH73746;AAK60260;AAX93145;AAY24018;ABB01006;ABM84340;ABM87770;ACE06961;BAG35173;BAH12542;BAH12768;BAH12833;BAH12883;BAH13448;CAB75426;CAO02240;EAW70148;EAW70149;EAW70150;EAW70151;EAW70152;EAW70153;NP_002147;NP_955472;P10809;XP_005246575 Hs.595053;Hs.727543 1340605;1669039;5016752;5016767;5126067 D2S2318;G06434;L28220;RH67923;RH69100 CPN60;HLD4;HSP-60;HSP60;HSP65;HuCHA60;SPG13 60 kDa chaperonin;60 kDa heat shock protein, mitochondrial;GROEL;OTTHUMP00000205744;P60 lymphocyte protein;chaperonin 60;heat shock protein 60 (liver);heat shock protein 65;mitochondrial matrix protein P1;short heat shock protein 60 Hsp60s1 APPROVED protein-coding ENSG00000144381 HGNC:5261 00318 118190;605280;612233 REVIEWED 733544 HSPE1 heat shock 10kDa protein 1 This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011] 2 2 2 q33.1 192120594 192124059 + 198364721 198368187 + 197499997 197503463 + 6480464 10205158;10763410;11050098;11329013;11689615;11898127;12220543;12387818;12477932;12483302;12703979;12860287;12967636;12970367;14525625;14717702;15059967;15146197;15489334;15546885;15590416;15635413;15816004;15978542;16100270;16169070;16210410;16253146;16502466;16979655;17072495;17278877;17353931;17419711;18319262;18329043;18465204;18500265;18987317;19004824;19142874;19520060;19738201;19903031;20877624;21139048;21319273;21375247;21890473;21906983;21988832;22304920;22505724;22623428;22810585;22863883;22939629;23000965;23364796;23383273;24250222;24583282;24816145;7698325;7912672;7914093;7916212;9989505 3336 B8ZZ54;B8ZZL8;P61604 ABBA01062482;AC020550;AF109872;AJ250915;AK312104;AMYH02005522;BC023518;BG188453;CH471063;CN264788;CR407688;NG_008914;NG_008915;NM_002157;U07550;X75821 AAA50953;AAC96332;AAH23518;AAX93146;ABM83886;ABM87206;BAG35040;CAA53455;CAB75425;CAG28616;EAW70154;EAW70155;EAW70156;EAW70157;EAW70158;EAW70159;EAW70160;EAW70161;EAW70162;EAW70163;NP_002148;P61604 Hs.1197 5015737;5111577 D12S1803;D15S1344 CPN10;EPF;HSP10 10 kDa chaperonin;10 kDa heat shock protein, mitochondrial;GROES;OTTHUMP00000163630;OTTHUMP00000205751;OTTHUMP00000205752;chaperonin 10;early-pregnancy factor;heat shock 10 kda protein 1;heat shock 10kD protein 1 (chaperonin 10) APPROVED protein-coding ENSG00000115541 HGNC:5269 02535 600141 REVIEWED 7383230 HSPE1P12 heat shock 10kDa protein 1 pseudogene 12 12 12 12 p13.2 16071227 16071529 + 10922906 10923205 + 10770307 10770606 + 100286954 ABBA01067806;AC016145;AMYH02026029;NG_030131 pseudo HGNC:49331 INFERRED 7369405 HSPE1P10 heat shock 10kDa protein 1 pseudogene 10 5 5 q23.2 126073463 126073723 - 126737771 126738031 - 100288235 ABBA01068892;AC137794;AMYH02012148;NG_030295 pseudo HGNC:49329 INFERRED 1344367 HSPD1P5 heat shock 60kDa protein 1 (chaperonin) pseudogene 5 4 4 4 q31.21 143094128 143096223 + 145766717 145768812 + 144845565 144847660 + 1980192;20193073 345041 ABBA01070019;AC109811;AMYH02010245;NG_008700 HSPD1-8P;HSPDP5 pseudo HGNC:5266 INFERRED 7368803 HSPE1-MOB4 HSPE1-MOB4 readthrough This locus represents naturally occurring read-through transcription between the neighboring HSPE1 (heat shock 10kDa protein 1 (chaperonin 10)) and MOB4 (MOB family member 4, phocein) genes on chromosome 2. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Oct 2011] 2 2 q33 198364721 198418423 + 197499997 197553699 + 6480464 20967262;21890473;21906983;22505724;23000965 100529241 S4R3N1 ABBA01062482;AC020550;AMYH02005522;BJ992310;CR990871;NM_001202485 NP_001189414 Hs.633165 1682682;1685976;1734894;1853887;5015961;5022322;5024756;5037552 D11S2560;D15S1477;D2S1666E;D8S2279;RH27240;RH80017;RH80030;WI-14124 HSPE1-PHOCN protein-coding HGNC:49184 REVIEWED 1350790 HSPE1P2 heat shock 10kDa protein 1 pseudogene 2 14 14 14 q23.2 44118847 44119310 + 64068189 64068652 + 63601471 63601934 + 326300 ABBA01018330;AL136038;AMYH02029339;NG_002552 HSPEP2 APPROVED pseudo HGNC:20052 INFERRED 7373667 HSPE1P16 heat shock 10kDa protein 1 pseudogene 16 16 16 16 p12.1 24850357 24850826 - 26073951 26074481 - 26062630 26063160 - 10763410 171421 ABBA01017131;AC093509;AF106867;AMYH02031756;NG_001326 1813050;1838334;1838336;1841170;1901480;1901482;1901484;1901486;1901488;1901490;1901492;1901494;1901496;1901498;1901500;1901502;1901504;2203602;2203604 ECD07544;ECD20341;ECD20342;ECD21779;REN21539;REN21540;REN21541;REN21542;REN21543;REN21544;REN21545;REN21546;REN21547;REN21548;REN21549;REN21550;REN21551;stSG622176;stSG622177 EPF8 pseudo HGNC:49334 INFERRED 7368895 HSPE1P4 heat shock 10kDa protein 1 pseudogene 4 12 12 12 q23.2 101931120 101931427 - 102267097 102267401 - 101873319 101873623 - 100287369 ABBA01053236;AC063950;AMYH02027075;NG_030128 pseudo HGNC:49323 INFERRED 7391967 HSPE1P20 heat shock 10kDa protein 1 pseudogene 20 12 12 12 q24.32 127006245 127006873 + 127396582 127396869 + 126912036 126912323 + 100288726 ABBA01060315;AC078878;AMYH02027501;NG_030135 pseudo HGNC:49339 INFERRED 7383612 HSPE1P3 heat shock 10kDa protein 1 pseudogene 3 15 15 15 67583482 67583790 + 91177957 91178262 + 90634725 90635030 + 100507046 ABBA01053063;AC103739;AMYH02031044;NG_030236 pseudo HGNC:49322 INFERRED 7368838 HSPE1P8 heat shock 10kDa protein 1 pseudogene 8 1 1 1 p34.3 38051293 38051897 - 39769579 39770591 - 39303907 39304919 - 100292290 ABBA01023213;ABBA01023214;AL442071;AMYH02000829;NG_029204 pseudo HGNC:49326 INFERRED 7389812 HSPE1P28 heat shock 10kDa protein 1 pseudogene 28 9 9 9 q32 85542230 85542650 - 115043268 115043688 - 112280988 112281408 - 10763410 171420 ABBA01042708;AF106868;AL158824;AMYH02021485;NG_001325 EPF5 pseudo HGNC:49347 INFERRED 7380815 HSPE1P5 heat shock 10kDa protein 1 pseudogene 5 16 16 16 53229613 53229920 + 68720282 68720586 + 68686379 68686683 + 100506000 ABBA01025497;AC099314;AMYH02032257;NG_030247 pseudo HGNC:49324 INFERRED 7371353 HSPE1P7 heat shock 10kDa protein 1 pseudogene 7 16 16 q23.1 74645989 74647147 - 74612091 74613249 - 100132346 ABBA01058103;ABBA01058104;AC109599;AMYH02032383;NG_029256 pseudo HGNC:49327 INFERRED 7393413 HSPE1P22 heat shock 10kDa protein 1 pseudogene 22 9 9 q22.31 94789780 94790103 + 92027498 92027821 + 100289607 ABBA01018581;AL391219;AMYH02021216;NG_030092 pseudo HGNC:49341 INFERRED 1351428 HSPG2 heparan sulfate proteoglycan 2 This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] 1 1 1 p36.1-p34 20471674 20545742 - 22148737 22263750 - 21822244 21937257 - 1624255;1624258;1624267;1624254;1624265;1580863;5510033;6480464;6907045;7240710;8554872;8699517 11101850;15056491;16620836;21720682;8225534;9068943 10545953;10579711;10702276;11148217;11279527;11493006;11574465;11847210;11847221;11941538;11956183;11968010;12036876;12435733;12477932;12604605;12754519;12811819;12900424;14563633;14625044;14630925;14702039;14973356;14974815;15031130;15081423;15211644;15231748;15240572;15567441;15591058;15657057;1569102;15905187;16129435;16269412;16283481;16335952;16407285;16502470;16570819;16713569;1679749;1685141;16914267;16927315;16984910;1730768;17356275;18024432;18658137;19056867;19066875;19380743;19506372;19553700;19669783;19738201;19788922;19789387;19839757;19889475;19913121;20053631;20072119;20074558;20452482;20507176;20628086;20673868;20690028;21078624;21126803;21255062;21596751;21808285;22003087;22076637;22268729;22457785;22643235;23060442;23104139;23161552;23235151;23336978;23374253;23397188;23436656;23509972;23568740;23599406;23836919;24001398;24101524;24486410;24700612;2687294;2745554;7500359;8234307;8541852;9136074;9307034;9313766;9431988;9688542;9692901;9733643 3339 H0Y5A9;H7BYA5;P98160;Q5SZI5;Q5SZI9;Q5SZJ1;Q5SZJ2 AA450342;AA507437;AB209851;ABBA01059833;ABBA01059834;AF479675;AI131329;AK126516;AL445795;AL590103;AL590556;AMYH02000461;AMYH02000462;BC033152;BC109204;BE273742;BG056875;CA407545;CD518822;CH471134;CX165450;M64283;M85289;NG_016740;NM_001291860;NM_005529;S76436;U41286;X62515;XM_005245863;XM_006710594;XM_006710595;XM_006710596;XM_006710597;XM_006710598 AAA52699;AAA52700;AAB21121;AAB95116;AAI09205;AAL79552;BAD93088;CAA44373;CAC18534;EAW94994;EAW94995;EAW94996;EAW94997;NP_001278789;NP_005520;P98160;XP_005245920;XP_006710657;XP_006710658;XP_006710659;XP_006710660;XP_006710661 Hs.562227 1687926;1733102;1744665;1774385;1775748;2137094;5015861;7185938 D10S16;D1S1432;G15904;GDB:549190;RH79675;SHGC-74354;STS-M85289 HSPG;PLC;PRCAN;SJA;SJS;SJS1 OTTHUMP00000002765;basement membrane-specific heparan sulfate proteoglycan core protein;endorepellin (domain V region);heparan sulfate proteoglycan 2 (perlecan);perlecan proteoglycan APPROVED protein-coding ENSG00000142798 HGNC:5273 00804 142461;224410;255800 REVIEWED 1345521 HTATSF1P HIV TAT specific factor 1 pseudogene 387039 HGNC:13959 1350965 HTC2 hypertrichosis 2 (generalised, congenital) 7240710 3342 HGNC:5278 1344524 HTATSF1 HIV-1 Tat specific factor 1 The protein encoded by this gene functions as a cofactor for the stimulation of transcriptional elongation by HIV-1 Tat, which binds to the HIV-1 promoter through Tat-TAR interaction. This protein may also serve as a dual-function factor to couple transcription and splicing and to facilitate their reciprocal activation. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Sep 2009] X X X q26.3 135942878 135958146 + 135579238 135594505 + 136497079 136512346 + 1580863;6480464;8554872 10393184;10454543;10913173;10964778;11420046;11780068;12477932;15050687;15231748;15345747;15485897;15489334;15564463;15772651;15905670;16055720;16169070;16512786;16565220;17081983;17332742;17353931;17620599;18029348;18187620;19471022;19479034;19836239;19952111;19966273;20360068;20639865;21139048;21145461;21282347;21890473;21906983;21963094;22053931;22113938;22365833;22863883;22939629;23000965;23022380;23153325;24816145;8125298;8849451;9649438;9710584;9765201 27336 O43719;Q5H918;Q5H919 AB209303;ABBA01055912;ABBA01055913;ABBA01055914;AK225870;AK299403;AMYH02040578;BC009896;BT006886;BU633070;CH471150;NG_013235;NM_001163280;NM_014500;U76992;XM_005262404;Z97632 AAB18823;AAH09896;AAP35532;ABW03796;BAD92540;BAG61386;EAW88468;EAW88469;NP_001156752;NP_055315;O43719;XP_005262461 Hs.204475 1645522;1770936;2108787;2148720 HTATSF1_3575.2;RH48015;RH48850;STS-U76992 TAT-SF1;TATSF1;dJ196E23.2 HIV TAT specific factor 1;HIV Tat-specific factor 1;OTTHUMP00000024126;cofactor required for Tat activation of HIV-1 transcription APPROVED protein-coding ENSG00000102241 HGNC:5276 02282 300346 REVIEWED 1343388 HTL high L-leucine transport 6717430 3343 HGNC:5280 151310 1351970 HTC1 hypertrichosis 1 (universalis, congenital) ASSOCIATED WITH Ambras syndrome (inferred) 7240710 3341 HGNC:5277 145701 1345515 HTLVR human T-cell leukemia virus (I and II) receptor 3201246;9330634 3345 HGNC:5282 143090 1602154 HTATSF1P2 HIV-1 Tat specific factor 1 pseudogene 2 6 6 6 p25.2 4249404 4254018 - 3020390 3025005 - 3020156 3024771 - 12477932 401233 Q6ZR97 ABBA01048622;AK128391;AL133351;AMYH02012991;BX648511;NR_033884 BAC87416 Hs.441039;Hs.745279 1651739;1670527;1673453;1679056;1725613;1735584;5014051;5016781;5020740;5022651;5024413 D11S2921;D6S1108E;D8S2278;G62093;L17809;L17877;RH94182;SHGC-30249;SHGC-57006;SHGC-67307;STS-J02888 APPROVED pseudo HGNC:38586 18424 VALIDATED 1346030 HTOR 5-hydroxytryptamine (serotonin) oxygenase regulator ASSOCIATED WITH 5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR (inferred) 7240710 3349 HGNC:5285 143460 1320556 HTATIP2 HIV-1 Tat interactive protein 2, 30kDa ENCODES a protein that exhibits oxidoreductase activity (inferred); transcription coactivator activity (inferred); INVOLVED IN nuclear import; regulation of angiogenesis; FOUND IN cytoplasm; membrane; nuclear envelope; INTERACTS WITH (-)-epigallocatechin 3-gallate; 1,4-phenylenediamine; 2,3,7,8-tetrachlorodibenzodioxine 11 11 11 p15.1 20517827 20537915 + 20385231 20405329 + 20363685 20383783 + 6480464 10395547;10611237;10698937;10892349;11313954;12477932;14695192;15073177;15124103;15282309;15342556;15489334;15493507;15633220;15728189;16615932;16799960;17097132;17997990;18029348;18519672;18528861;18537194;18972434;19010857;19027726;19104151;19349353;19798571;19839715;19946888;20374651;21139048;21150275;21252234;21543106;21731680;21890473;21906983;21963094;21987572;22490293;22733137;23000965;23178973;23251661;23800048;24037692;25015289;8125298;9174052;9482853 10553 E9PI87;Q9BUP3 ABBA01061034;AC025972;AF039103;AF092095;AI193677;AK130473;AK222969;AK223010;AK292092;AMYH02024414;AW963626;BC002439;BC015358;BF681178;BP382529;CH471064;CR456821;DB450790;NM_001098520;NM_001098521;NM_001098522;NM_001098523;NM_006410;U69161 AAB84360;AAC39694;AAC78331;AAH02439;AAH15358;ABZ92511;BAD96689;BAD96730;BAF84781;CAG33102;EAW68337;EAW68338;EAW68339;EAW68340;EAW68341;NP_001091990;NP_001091991;NP_001091992;NP_001091993;NP_006401;Q9BUP3 Hs.90753 2175747;5091422 G29234;SGC34227 CC3;FLJ26963;SDR44U1;TIP30 30 kDa HIV-1 TAT-interacting protein;HIV-1 TAT-interactive protein 2;OTTHUMP00000231703;OTTHUMP00000231704;OTTHUMP00000231705;OTTHUMP00000231706;OTTHUMP00000231707;OTTHUMP00000232023;Tat-interacting protein (30kD);oxidoreductase HTATIP2;short chain dehydrogenase/reductase family 44U, member 1 protein-coding ENSG00000109854 HGNC:16637 09288 605628 VALIDATED 1347774 HTN3 histatin 3 This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Sep 2014] 4 4 4 q13 68247569 68255694 + 70894130 70902255 + 70028413 70036538 + 1580863;6480464;8554872 10728974;10794615;11179305;11226423;11816973;12183519;12477932;12761219;14966203;15272024;15342556;15489334;16203048;17176059;17999963;18230684;18650243;19321452;19753800;20237496;20487276;21741339;22033918;2303595;2344289;2372245;2719677;2773933;3286634;3426601;7951254;8336540;8945538 3347 P15516;X6RAH8 ABBA01022923;AC063956;AMYH02009409;BC009791;BC095438;BP332860;CB957931;CH471057;L05514;M18372;M26665;NG_012279;NM_000200;S74382 AAA02746;AAA51830;AAA58646;AAB32411;AAH09791;AAH95438;ABM83790;ABM87112;EAX05606;NP_000191;P15516 Hs.654442 1680461 RH93320 HIS2;HTN2;HTN5;PB;hst OTTHUMP00000219123;OTTHUMP00000231665;OTTHUMP00000231666;basic histidine-rich protein;histatin 5;histatin-3;histatin-4;histatin-5;histatin-6;histatin-7;histatin-8;histatin-9;histidine-rich protein 3 APPROVED protein-coding ENSG00000205649 HGNC:5284 00815 142702 REVIEWED 1350130 HTR1DP1 5-hydroxytryptamine (serotonin) receptor 1D pseudogene 1 12 12 12 2868004 2868784 - 1261423 1262203 - 1152257 1153037 - 8444354 100421479;3353 ABBA01048829;AC004802;AMYH02025861;NG_023961 pseudo HGNC:5290 INFERRED 1323157 HSPH1 heat shock 105kDa/110kDa protein 1 ENCODES a protein that exhibits alpha-tubulin binding (inferred); ATP binding (inferred); INVOLVED IN chaperone mediated protein folding requiring cofactor (inferred); positive regulation of MHC class I biosynthetic process (inferred); positive regulation of NK T cell activation (inferred); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN cytoplasm; cytosol; extracellular vesicular exosome; INTERACTS WITH (E)-cinnamyl alcohol; 1,4-phenylenediamine; 1-fluoro-2,4-dinitrobenzene 13 13 13 q12.3 12778480 12803835 - 31710762 31737246 - 31134974 31163109 - 1580863;6480464;6907045 10772927;10865058;12477932;12558502;12749852;12853125;12952910;14534695;14563843;14733918;15057823;15345747;15489334;1602151;16083285;16169070;16232202;16263121;16344560;16964243;17024176;17081983;17110338;17314511;18029348;18083346;18477890;18654987;18781797;19476517;20020773;20542028;20639865;20810990;20811636;21139048;21145461;21693764;21822214;21860023;21890473;21906983;21963094;21987572;22053931;22190034;22268729;22304920;22323290;22505710;22505724;22712230;22863883;22901192;22939629;23000965;23349634;23438482;23737532;24157810;24163370;24318877;24583282;24816145;25015289;25027693;25036637;9039502;9610721;9675148;9931472 10808 B4DY72;Q5TBM3;Q92598;R4GN69 AB003333;AB003334;ABBA01010121;AF039695;AK293955;AK302294;AK302430;AK302832;AK303029;AK307597;AK311464;AK314576;AL137142;AMYH02027806;BC018124;BC037553;BX648125;BX648623;CD251908;CH471075;D86956;DB069199;DB077644;NM_001286503;NM_001286504;NM_001286505;NM_006644;XM_005266236;XM_006719757 AAC18044;AAH37553;ABM82653;ABM85830;BAA13192;BAA34779;BAA34780;BAG57329;BAG63634;BAG63733;BAG64026;BAG64155;EAX08477;EAX08478;EAX08479;EAX08480;EAX08481;EAX08482;NP_001273432;NP_001273433;NP_001273434;NP_006635;Q92598;XP_005266293;XP_006719820 Hs.743267 1340779;1654121;1767262;1852913;2143960;2169255 A002P33;A004B05;D13S1287;D13S903;HSC2EB012;RH25414 DKFZp686M05240;HSP105;HSP105A;HSP105B;KIAA0201;NY-CO-25 OTTHUMP00000018208;OTTHUMP00000018209;OTTHUMP00000018210;antigen NY-CO-25;heat shock 105kD alpha;heat shock 105kD beta;heat shock 105kDa protein 1;heat shock 110 kDa protein;heat shock protein 105 kDa protein-coding ENSG00000120694 HGNC:16969 09990 610703 VALIDATED 1353028 HTN1 histatin 1 This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Aug 2014] 4 4 4 q13 68269654 68278054 + 70916159 70924559 + 70050442 70058842 + 1580863;6480464;8554872 10728974;11570863;12060866;12477932;12711380;12832472;15489334;16203048;17503797;18650243;19060311;20237496;23001880;2303595;2372245;2719677;2773933;3286634;3944083;8336540;8600179;9109822 3346 P15515 ABBA01022923;AC063956;AMYH02009409;BC017835;BP335073;CB984538;CH471057;CR627329;L04131;L04132;L05512;M26664;NM_002159 AAA02745;AAA58645;AAH17835;EAX05607;NP_002150;P15515 Hs.250959 1680461;5118342 D11S3206;RH93320 HIS1;PPB OTTHUMP00000159763;OTTHUMP00000219877;histatin-1;histidine-rich protein 1;post-PB protein protein-coding ENSG00000126550 HGNC:5283 00814 142701 REVIEWED 1350220 HTR1E 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled ENCODES a protein that exhibits serotonin binding; serotonin receptor activity; INVOLVED IN adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway; serotonin receptor signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of plasma membrane; INTERACTS WITH all-trans-retinoic acid; copper atom; copper(0) 6 6 6 q14-q15 88065796 88145153 + 87647024 87726397 + 86937306 87016679 + 1580863;6480464;8554872 10391209;12477932;12627464;14574404;1513320;15489334;1608964;1733778;17353931;18079067;18240029;18577758;18821565;18937842;19058789;19086053;19156168;19455600;2834384;8001977;9316030 3354 P28566 AB041373;ABBA01040487;AF498980;AL157777;AL521170;AMYH02014052;BC069751;CH471051;M91467;M92826;NM_000865;Z11166 AAA58353;AAA58355;AAH69751;AAM21127;BAA94458;CAA77558;EAW48616;EAW48617;NP_000856;P28566 Hs.1611 1706896;1744197;1744199;1771373;2141325;2145356;2153320;2172184;5492653;5493607 AFM296tf1;D6S2061;G15845;GDB:435478;GDB:435482;RH46696;SHGC-80936;UniSTS:481920;UniSTS:489680;WI-18995 5-HT-1E;5-HT1E;S31 5-hydroxytryptamine receptor 1E;OTTHUMP00000016823;serotonin receptor 1E APPROVED protein-coding ENSG00000168830 HGNC:5291 01635 182132 VALIDATED 731005 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled The neurotransmitter serotonin (5-hydroxytryptamine; 5-HT) exerts a wide variety of physiologic functions through a multiplicity of receptors and may be involved in human neuropsychiatric disorders such as anxiety, depression, or migraine. These receptors consist of several main groups subdivided into several distinct subtypes on the basis of their pharmacologic characteristics, coupling to intracellular second messengers, and distribution within the nervous system (Zifa and Fillion, 1992 [PubMed 1359584]). The serotonergic receptors belong to the multigene family of receptors coupled to guanine nucleotide-binding proteins.[supplied by OMIM, Oct 2009] 6 6 6 q13 78559593 78560765 - 78171948 78173120 - 77462231 77463403 - 1580863;1358660;1358661;1626449;1626447;1626451;1626450;1626470;1626473;1626445;1626453;6480464;8554872 10564740;11739290;11882579;12393100;12556913;14714219;15698923;16165284;17452372;17542534 11104852;11140838;11247661;11378847;11496363;11578619;11690602;11751038;11827742;11854302;11956970;12022963;12192616;12477932;12496953;12497617;12627464;12877392;12898580;1315531;1328844;1348246;1351684;1359584;14504413;14574404;14593427;14730192;14744462;15108179;15109354;15211620;15318027;15365222;15489334;1559993;1565658;15670397;15698927;15700286;15717291;15944142;1610347;16197923;16310769;16344719;16400147;16443280;16770336;16847428;16856120;16958036;17011639;17093889;17241828;17325714;17353931;17417740;17427194;17501853;17501935;17503984;17510950;17525973;17563839;17948897;18035351;18240029;18253134;18270970;18283276;18349694;18430065;18577758;18583979;18676680;18821566;18855532;18937842;19032968;19038234;19058789;19086053;19156168;19170196;19325252;19350534;19352218;19455600;19506906;19519719;19625176;19626271;19639876;19673036;19692168;19721846;19756364;19829169;19874574;19897250;19913121;19936617;20010449;20071033;20388441;20398908;20435093;20468064;20480149;20538960;20545463;20565774;20628086;20638825;20674037;21169892;21172311;21478802;21711518;21839728;21906503;22005095;22106445;22172591;22240001;22420486;22493371;22522758;22550993;22575343;22584868;22717018;22851636;22945537;23177301;23335468;23375453;23430984;23485949;23519210;23563356;23601559;24126162;24722188;2834384;7802650;8218242;8700126;8882600 3351 P28222;X5D7I5 AB041370;ABBA01040387;AK290080;AK315325;AL049595;AMYH02013951;AY225227;BC069065;BC096206;BC096207;BC096208;CH471051;D10995;KJ534870;L09732;M75128;M81590;M83180;NM_000863 AAA36029;AAA36030;AAA58675;AAA60316;AAH69065;AAH96206;AAH96207;AAH96208;AAO67712;AHW56510;BAA01763;BAA94455;BAF82769;BAG37726;EAW48722;NP_000854;P28222 Hs.123016 1744899;1744901;1744903;1744905;1744907;1744909;1744911;1744913;1744915;1745359;1745361;1745363;1794330;1796026;2159864;5492467 GDB:580593;GDB:580596;GDB:580599;GDB:580603;GDB:580608;GDB:580611;GDB:580614;GDB:580618;GDB:580621;GDB:603580;GDB:603584;GDB:603594;HTR1B_992;PMC311033P3;RH47746;UniSTS:481202 5-HT1B;5-HT1DB;HTR1D2;HTR1DB;S12 5-HT-1B;5-HT-1D-beta;5-hydroxytryptamine receptor 1B;OTTHUMP00000016769;serotonin 1D beta receptor;serotonin receptor 1B APPROVED protein-coding ENSG00000135312 HGNC:5287 01634 182131 PROVISIONAL 734005 HTR1F 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled ENCODES a protein that exhibits serotonin binding; serotonin receptor activity; INVOLVED IN adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway; serotonin receptor signaling pathway; FOUND IN integral component of plasma membrane; INTERACTS WITH cyclosporin A; ammonium chloride (ortholog); benzo[a]pyrene (ortholog) 3 3 3 p12 88785845 88797020 + 87841929 88043964 + 87792779 87994814 + 70767;1580863;6480464 8384716 11888546;11916537;12477932;12627464;1328180;15190056;15489334;16254601;16856120;18240029;18577758;19086053;19156168;19455600;21457069;2834384;8380639;9632173 3355 P30939;Q9P2Q4 A74286;AB037533;ABBA01004632;AC117513;AC119034;AC119733;AC132004;AF498981;AMYH02007219;BC069125;BC096838;BX357988;CH471110;L04962;L05597;NM_000866;XM_005264747;XM_005264748;XM_005264749;XM_005264750;XM_005264751 AAA36605;AAA36646;AAH69125;AAM21128;BAA90453;CAB58517;EAW68865;NP_000857;P30939;XP_005264804;XP_005264805;XP_005264806;XP_005264807;XP_005264808 Hs.248136 1796030;1854512;2151898;5095040;5492479 HTR1F;HTR1F_996;RH46950;RH68987;UniSTS:481225 5-HT-1F;5-HT1F;5HT6;HTR1EL;MR77 5-hydroxytryptamine receptor 1F;serotonin receptor 1F APPROVED protein-coding HGNC:5292 01637 182134 VALIDATED 736440 HTR1D 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled ENCODES a protein that exhibits serotonin receptor activity; INVOLVED IN adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway; intestine smooth muscle contraction; serotonin receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenous acid; diarsenic trioxide 1 1 1 p36.3-p34.3 21840525 21843359 - 23518388 23521222 - 23191895 23194729 - 1580863;6480464;8554872 10391209;11140838;11854302;12477932;12627464;12650952;12740597;1315531;15109354;15489334;1565658;16059583;1652050;1662665;16710414;16806108;17068621;17099886;17203304;17501853;17940576;18240029;18557979;18577758;18582865;18676680;18855532;19032968;19086053;19156168;19170196;19455600;19625176;19692168;19878438;20468064;20545463;20602615;20633049;20881960;20946355;21079607;22107845;2541503;9186750 3352 P28221 ABBA01059864;AF498979;AL049576;AMYH02000488;BC007720;BT007027;CH471134;M81589;M89955;NM_000864 AAA35491;AAA60315;AAH07720;AAM21126;AAP35673;ABM84801;ABW03623;EAW95037;NP_000855;P28221 Hs.121482 1689446;1728555;1743705;1745137;1745271;1745273;1745765;1796028;2128746;5022649;5024039 D11S2875;D16S325;G63716;GDB:371366;GDB:595218;GDB:597566;GDB:597572;GDB:636095;HTR1D_994;RH98554;SHGC-74364 5-HT1D;HT1DA;HTR1DA;HTRL;RDC4 5-HT-1D;5-HT-1D-alpha;5-hydroxytryptamine receptor 1D;OTTHUMP00000003270;serotonin 1D alpha receptor;serotonin receptor 1D APPROVED protein-coding ENSG00000179546 HGNC:5289 01636 182133 VALIDATED 731795 HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. [provided by RefSeq, Oct 2011] 2 2 2 q36.3-q37.1 225748458 225765335 - 231972944 231989926 - 231108230 231125213 - 1580863;6480464;8554872 10722792;10734074;11150294;11859080;11877320;11916537;12477932;12761501;12767050;12970106;15123239;15489334;15608559;15625277;15815621;15862800;15925089;16517693;16754659;17609583;18079067;18240029;18566482;18703043;19023134;19057895;19086053;19095219;19156168;19307114;19308295;19455600;19874574;19913121;20346360;20564397;20628086;20846463;21179162;21836641;22493371;22889411;22917605;23355731;23400010;23519215;23774082;24089568;24174497;24244317;7582481;7599919;7926008;8078486;8143856;8621713;8786115;8882600;9186750 3357 AAB31827;P41595 ABBA01002063;AC009407;AF156160;AK313741;AMYH02005964;AY114103;AY136751;BC063123;CH471063;NM_000867;X77307;XM_005246520;XM_006712482;Z36748 AAB31827;AAD39259;AAH63123;AAM78370;AAN01277;AAX93128;BAG36482;CAA54513;CAA85319;EAW70949;NP_000858;P41595;XP_005246577;XP_006712545 Hs.421649 1648512;1796032;2117387;2145381 HTR2B_345;RH48937;RH68938;SHGC-12915 5-HT(2B);5-HT2B 5-HT 2B receptor;5-HT-2B;5-hydroxytryptamine 2B receptor;5-hydroxytryptamine receptor 2B;5-hydroxytryptamine receptor 2B variant b;OTTHUMP00000164294;serotonin receptor 2B APPROVED protein-coding ENSG00000135914 HGNC:5294 03077 601122 VALIDATED 6481293 HTR2A-AS1 HTR2A antisense RNA 1 13 13 q14.2 47426275 47430434 + 46852140 46856299 + 21173788 100874082 ABBA01050995;AI076014;AI216351;AI914390;AL160397;AMYH02027991;AW469493;HG505622;HG505624;NR_046612;NR_103752 Hs.569281 RP11-83N23.2 APPROVED ncrna ENSG00000224517 HGNC:40289 VALIDATED 731037 HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 11 11 11 q23.1 110998666 111013897 + 113845797 113861035 + 113975075 113990313 + 6480659;6480464;6480658 21420406;22014438 10670426;11207027;11495540;11505217;12059035;12359150;12363396;12457738;12477932;12549905;12661769;12750374;12791692;12867984;14557147;14626451;15028279;15102340;15115912;15131114;15293096;15452106;15489334;15809299;15887114;16000636;16314763;16407231;16487942;16534507;16595668;16825485;16874005;16931691;17010535;17052218;17192651;17200121;17259209;17260949;17401153;17496724;17509016;17697394;18063656;18079067;18184810;18197086;18292429;18330705;18331431;18359159;18593952;18614545;18622264;18681779;18982004;19008750;19032968;19081678;19086053;19095219;19156168;19184136;19185213;19455600;19457066;19713259;19741568;19794330;19874574;19904001;19913121;19933756;20021265;20075642;20168265;20356718;20468064;20516728;20522555;20538960;20602613;20602615;20628086;20694966;20728877;20838391;21184810;21338684;21454663;21969281;22328445;22700043;22818390;22832903;23126479;23290502;23489111;23740249;23757001;23897038;23972841;24030822;24304330;24590108;7565620;8112471;8530095;8848005;9928262;9950429 3359 B4E398;P46098;Q9UEP2 ABBA01039775;AF498984;AJ003078;AJ003079;AJ003080;AJ005205;AK299973;AK304630;AK313896;AMYH02025597;AP000908;BC002354;BC004453;BT007204;CD014118;CH471065;D49394;NG_013058;NM_000869;NM_001161772;NM_213621;NR_046363;S82612;U73443 AAB37533;AAB71736;AAH02354;AAH04453;AAM21131;AAP35868;AAP36958;ABM82929;ABM86119;BAA08387;BAG36619;BAG61798;BAG65410;CAA05851;CAA05852;CAA05853;CAA05854;CAA06442;EAW67237;EAW67238;EAW67239;EAW67240;NP_000860;NP_001155244;NP_998786;P46098 Hs.413899 1339602;1668490;1852560;2119277;2146901 5HT3R;D11S1786;RH36483;SHGC-31530;STS-D49394 5-HT-3;5-HT3A;5-HT3R;5HT3R;HTR3 5-HT3-A;5-hydroxytryptamine receptor 3;5-hydroxytryptamine receptor 3A;5HT3 serotonin receptor;OTTHUMP00000218317;OTTHUMP00000218318;OTTHUMP00000218319;OTTHUMP00000218320;serotonin receptor 3A;serotonin-gated ion channel receptor APPROVED protein-coding ENSG00000166736 HGNC:5297 08917 182139 REVIEWED 69020 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012] 5 5 5 q11.2-q13 60253209 60254477 - 63255875 63258119 - 63960048 63962292 - 737702;1580863;737704;5683632;6480464;5683627;5683633;5683630;5683634;5683628;5683629;5683631;8699517;7240710;8554872 10578452;20508280;20508993;20817074;21352823;21421022;21512427;21945716;9826725;9844013 11140838;11163544;11814436;11854302;11989622;11992564;12062903;12181435;12477932;12522576;12559389;12650852;12759158;12969265;1330092;14507979;14573316;14666415;14736842;14744462;14984628;14998306;15048689;15052272;15111672;15148501;15211620;15447813;15458611;15469667;15489334;15498580;15521063;15539859;1559993;15683551;15716853;15728438;15758168;15864118;15940302;15952185;16081372;16154547;16302021;16316476;16344560;16458487;16464220;16467535;16504134;16538182;16626484;16633140;16677618;16722981;16756688;16770336;1685484;16856120;17009264;17012696;17092965;17123166;17142836;17192951;17203304;17203973;17208318;17217240;17401528;17408646;17417740;17420412;17426452;17438519;17466494;17493586;17504248;17507923;17540717;17543959;17570737;17655760;17661792;1766875;17724868;17888419;17906010;18047755;18079067;18163385;18181968;18240029;18268499;18270970;18286597;18308786;18334271;18387137;18387740;18394726;18484082;18561871;18562131;18573276;18577758;18583156;18593952;18606193;18639564;18644006;18663369;18675780;18706198;18707693;18715570;18727636;18761712;18796187;18826444;18832011;18841018;18848359;18849890;18855532;18937842;18962444;18971477;18982004;19032968;19052756;19060480;19077664;19086022;19086053;19095219;19105200;19124686;19156168;19162119;19170664;19224112;19278673;19309202;19326813;19330775;19339052;19352591;19353636;19381154;19423080;19439818;19455600;19533293;19560507;19590397;19617338;19636338;19639876;19723504;19725031;19730445;19736291;19747927;19780043;19781522;19800133;19829169;19874574;19894072;19897250;19900711;19903365;19936617;19962444;19997044;20010450;20022223;20025927;20026342;20043001;20075642;20124538;20170167;20171159;20351714;20388441;20392296;20403354;20435093;20451351;20453658;20454985;20468064;20470849;20515362;20519060;2052135;20521763;20533011;20538346;20577624;20594600;20609217;20633049;20638825;20734064;20935630;21169892;21194755;21214634;21269332;21382916;21397953;21399903;21449006;21453976;21459095;21577007;21605442;21619616;21621273;21640070;21645534;21688171;21726540;21750580;21849982;22044630;22050514;22111663;22120873;22176604;22205572;22222329;22232550;22328058;22373128;22392387;22403020;22483975;22491354;22493371;22510520;22560877;22563461;22579604;22594670;22624739;22752684;22836176;22863653;22892071;22952650;22957663;23006663;23036158;23192369;23216389;23247084;23277246;23308375;23318131;23333373;23375453;23408467;23434290;23466604;23495896;23499153;23516322;23537781;23844689;23894004;23897914;23907404;23911056;24050112;24157794;24204828;24972638;2591972;2834384;3041227;3138543;7755630;8218170;8393041;8626793;9736659;9754630 3350 A8K5W4;D6RA34;P08908;Q5ZGX3 AB041403;ABBA01048345;AC122707;AF498978;AJ781317;AK291429;AK314187;AMYH02011406;BC069159;BC136263;CH471137;DA160783;DA223047;DA527925;M28269;M83181;NG_032816;NM_000524;S64045;X13556;X57829;Z11168 AAA36440;AAA66493;AAD13945;AAH69159;AAI36264;AAM21125;BAA94488;BAF84118;CAA31908;CAA40962;CAA77560;CAH03197;EAW51377;NP_000515;P08908 Hs.247940 2113790;2121018;5492549;5492913 HTR1A;RH70818;UniSTS:481605;UniSTS:483224 5-HT-1A;5-HT1A;5HT1a;ADRB2RL1;ADRBRL1;G-21;PFMCD 5-HT1a receptor;5-hydroxytryptamine receptor 1A;G protein coupled receptor;OTTHUMP00000221820;OTTHUMP00000221821;guanine nucleotide-binding regulatory protein-coupled receptor;serotonin receptor 1A APPROVED protein-coding HGNC:5286 00190 109760;614674 REVIEWED 1353896 HTR3C 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. [provided by RefSeq, Jul 2008] 3 3 3 q27.1 182213538 182221192 + 183770835 183778461 + 184053047 184060673 + 1580863 12477932;12801637;14597179;15157181;18389280;18681779;19035560;19794330;20021265;20356718;20538960;21192076;22472876;23928294;24477975 170572 Q8WXA8 ABBA01058463;AC131235;AF459285;AMYH02008300;BC131799;CH471052;NG_012749;NM_130770 AAI31800;AAL66182;EAW78305;NP_570126;Q8WXA8 Hs.632579 5-HT3-C;5-HT3C 5-hydroxytryptamine (serotonin) receptor 3, family member C;5-hydroxytryptamine receptor 3 subunit C;5-hydroxytryptamine receptor 3C;OTTHUMP00000210834;serotonin receptor 3C APPROVED protein-coding ENSG00000178084 HGNC:24003 17120 610121 REVIEWED 1344328 HTR3D 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] 3 3 3 q27.1 182192147 182199840 + 183749332 183757157 + 184031544 184039369 + 8554872 12477932;12801637;14597179;19794330;19913121;20021265;20356718;20538960;20602613;20628086;21192076;22472876 200909 F6WC43;Q70Z44 ABBA01058465;AC068644;AC131235;AJ437318;AMYH02008300;AY159812;BC101090;BC101091;BK001746;NG_012750;NM_001145143;NM_001163646;NM_182537 AAI01091;AAI01092;AAO38166;CAD24817;NP_001138615;NP_001157118;NP_872343;Q70Z44 Hs.448004 5-HT3-D;5-HT3D;5HT3D;MGC119636;MGC119637 5-hydroxytryptamine (serotonin) receptor 3 family member D;5-hydroxytryptamine receptor 3 subunit D;5-hydroxytryptamine receptor 3D;OTTHUMP00000210831;OTTHUMP00000210832;OTTHUMP00000210833;OTTHUMP00000225094;serotonin 5-HT-3D receptor;serotonin receptor 3D APPROVED protein-coding ENSG00000186090 HGNC:24004 17121 610122 REVIEWED 6481104 HTR4-IT1 HTR4 intronic transcript 1 (non-protein coding) q32 12477932 100874271 AC008627;BC037883 Hs.685027 zmm2 ncrna HGNC:41345 1347568 HTR3E 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic This locus encodes a 5-hydroxytryptamine (serotonin) receptor subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. Genes encoding subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2012] 3 3 3 q27.1 182260576 182267055 + 183814852 183824783 + 184097064 184106995 + 8554872 12477932;12801637;14597179;15157181;18573276;18614545;19794330;20021265;20356718;20522555;20538960;20602613;21192076;22472876;23928294 285242 A5X5Y0;C9J420 ABBA01058462;AC131235;AMYH02008301;AY159813;AY349352;AY349353;BC101182;BC101183;BC101184;BC101185;CH471052;DQ644022;EU165354;NG_012452;NM_001256613;NM_001256614;NM_182589;NM_198313;NM_198314;XM_005247376 A5X5Y0;AAI01183;AAI01184;AAI01186;AAO38167;AAQ93476;AAQ93477;ABG35128;ABW05298;EAW78304;NP_001243542;NP_001243543;NP_872395;NP_938055;NP_938056;XP_005247433 Hs.449179 5-HT3-E;5-HT3E;5-HT3c1;MGC120035;MGC120036;MGC120037 5-HT3 receptor subunit E splice variant HTR3Ea;5-hydroxytryptamine (serotonin) receptor 3, family member E;5-hydroxytryptamine receptor 3 subunit E;5-hydroxytryptamine receptor 3E;OTTHUMP00000210825;OTTHUMP00000210826;OTTHUMP00000210827;OTTHUMP00000210828;OTTHUMP00000210830;serotonin receptor 3E APPROVED protein-coding ENSG00000186038 HGNC:24005 17122 610123 REVIEWED 734107 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 13 13 13 q14-q21 28463441 28527123 - 47405677 47471211 - 46831542 46897076 - 1624376;1624367;1624370;1624371;1624393;1624369;1624392;1624374;1624375;1600503;1331525;1624379;1580863;6480464;5135278;7240710;7257687;7257680;7257686;7257660;7257662;8554872 11378836;12213354;12392096;15118671;15659047;16002744;16183055;16328014;16362404;16491645;17062970;17268262;18175064;20531396;21521772;23291154;23344575;9128844 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904143;23988500;24055687;24065538;24089568;24178752;24244317;24257701;25069264;7582481;8035173;8622505;8655141;9109547;9130948;9153397;9169451;9635956 3356 P28223 A23337;AA418604;AB037513;ABBA01050995;AF498982;AK302787;AK314132;AL136958;AL160397;AMYH02027991;BC069356;BC069576;BC074848;BC074849;BC096839;BX647777;CH471075;DA233936;DA247468;DC321645;DN990785;M86841;NG_013011;NM_000621;NM_001165947;S42168;S50130;S71229;X57830 AAA58354;AAB22791;AAB24166;AAB31320;AAH69356;AAH69576;AAH74848;AAH74849;AAH96839;AAM21129;BAA90433;BAG36822;BAG63991;CAA01675;CAA40963;EAX08770;NP_000612;NP_001159419;P28223 Hs.72630 1738415;1761899;1782924;1794332;1794338;1856181;2114082;2139978;2157544;2163540;2167442;2217458 D13S1180;D13S672E;HTR2A;HTR2A_1901;PMC311033P4;PMC311033P7;RH48562;RH69922;SGC31576;SHGC-145834;SHGC-155210;WI-15917 5-HT-2;5-HT-2A;5-HT2A;HTR2 5-HT2 receptor;5-hydroxytryptamine receptor 2A;OTTHUMP00000018378;serotonin 5-HT-2A receptor;serotonin receptor 2A 1643282;1643520;2289411 BW193_H;BW199_H;BW259_H APPROVED protein-coding ENSG00000102468 HGNC:5293 01638 103780;164230;181500;182135;606788;608516 REVIEWED 730958 HTR3B 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011] 11 11 11 q23.1 110928462 110970153 + 113775518 113817283 + 113904796 113946561 + 1580863;6480662;6480660;6480464;8554872 16487942;20838391 10521471;12359150;12363396;12750374;12775740;12867984;14557147;15115912;15293096;15389765;15887114;16314763;16534507;16874005;17010535;17697394;18079067;18184810;18187416;18300944;18389280;18518925;18698232;18807291;18937842;18982004;19008750;19058789;19086053;19156168;19185213;19328558;19713259;19741568;19794330;19874574;19913121;20021265;20075642;20168265;20351714;20356718;20538960;20602613;20602615;20628086;21184810;21840870;22832903;23290502;23464988;23489111;23757001;23810831;23897038;23972841;24244382;24590108;9950429 9177 H0YFX8;O95264 ABBA01039775;ABBA01039776;ABBA01039777;AF080582;AF169255;AK314268;AM293589;AMYH02025597;AP001874;CH471065;EF444985;NG_011483;NM_006028 AAD12242;AAF03691;AAI41516;ACA06001;BAG36930;CAL25321;EAW67236;NP_006019;O95264 Hs.241377 1341375;5020885 D1S2714;L17791 5-HT3B 5-HT3-B;5-hydroxytryptamine 3 receptor B subunit;5-hydroxytryptamine receptor 3B;OTTHUMP00000238333;OTTHUMP00000238334;serotonin receptor 3B;serotonin-gated ion channel subunit APPROVED protein-coding ENSG00000149305 HGNC:5298 06875 604654 REVIEWED 7248157 HTR5A-AS1 HTR5A antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 7 7 7 q36.2 149276249 149280737 - 154858777 154863267 - 155067067 155071557 - 8554872 12477932 100128264 B7Z8E6;H7BYN6 ABBA01015991;AC093726;AK303289;AMYH02017132;BC031272;BC045795;CH236962;DC407680;NR_038945 BAH13932 Hs.248137;Hs.744621 HTR5A-AS1;HTR5AOS APPROVED ncrna ENSG00000220575 HGNC:48956 VALIDATED 736061 HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010] 5 5 5 q31-q33 143909957 144112979 - 147830595 148034090 - 148451032 148654527 - 6480464;8554872 10220570;10646498;10683202;11218067;11406291;11716477;11750916;11989623;12036966;12399948;12446729;12477932;12519861;12855812;12898568;15118808;15489334;15575821;15710402;15825078;15896782;15919661;15925089;15950987;16102731;16209130;16322401;16563621;17377064;17379184;17418812;17509016;17572776;17603679;18079067;18240029;18270970;18322379;18359159;18577758;18846035;19002436;19053287;19081678;19086053;19156168;19328558;19352218;19455600;19460752;19892407;20010834;20010835;20538346;21364600;21382128;21673407;21965014;22145929;22226658;22493371;22505724;22584237;22699663;22709820;22837378;22842674;22903372;23284291;23307014;23474291;23890215;7656980;9276448;9349523;9351641;9371406;9603189;9724925 3360 E5RHV8;E5RK45;Q13639 ABBA01026315;ABBA01026316;ABBA01026317;AC008627;AC011390;AC091971;AC114939;AJ011371;AJ131724;AJ131725;AJ131726;AJ243213;AJ278979;AJ278980;AJ278981;AJ278982;AJ519673;AJ633645;AK308471;AM712912;AMYH02012436;AMYH02012437;AMYH02012438;BC074755;BC095497;CH471062;DR000612;NG_029052;NM_000870;NM_001040169;NM_001040172;NM_001040173;NM_001286410;NM_199453;NR_104445;Y08756;Y09586;Y10437;Y12505;Y12506;Y12507;Y13584;Z48150 AAH74755;AAH95497;CAA09600;CAA70002;CAA70774;CAA71462;CAA73107;CAA73108;CAA73109;CAA73911;CAA88167;CAB71316;CAC20411;CAC22248;CAC22249;CAC22250;CAC22251;CAC79533;CAC79538;CAD58392;CAG17627;CAN84676;EAW61799;EAW61800;EAW61801;EAW61802;EAW61803;EAW61804;NP_000861;NP_001035259;NP_001035262;NP_001035263;NP_001273339;NP_955525;Q13639 Hs.483773 1715429;2126701;2171937;2183398;5094943 D5S1425;D5S1748;HTR4;RH120547;UniSTS:495967 5-HT-4;5-HT4;5-HT4R 5-hydroxytryptamine receptor 4;5-hydroxytryptamine4 receptor;OTTHUMP00000160384;OTTHUMP00000224250;OTTHUMP00000224252;OTTHUMP00000224254;OTTHUMP00000224281;OTTHUMP00000224282;OTTHUMP00000224307;OTTHUMP00000235919;cardiac 5-HT4 receptor APPROVED protein-coding ENSG00000164270 HGNC:5299 602164 REVIEWED 736842 HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled Serotonin (5-hydroxytryptamine, 5-HT), a neurotransmitter, elicits a wide array of physiological effects by binding to several receptor subtypes, including the 5-HT2 family of seven-transmembrane-spanning, G-protein-coupled receptors, which activate phospholipase C and D signaling pathways. This gene encodes the 2C subtype of serotonin receptor and its mRNA is subject to multiple RNA editing events, where genomically encoded adenosine residues are converted to inosines. RNA editing is predicted to alter amino acids within the second intracellular loop of the 5-HT2C receptor and generate receptor isoforms that differ in their ability to interact with G proteins and the activation of phospholipase C and D signaling cascades, thus modulating serotonergic neurotransmission in the central nervous system. Studies in humans have reported abnormalities in patterns of 5-HT2C editing in depressed suicide victims. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] X X X q24 114253715 114579778 + 113818551 114144624 + 114584078 114910061 + 1358737;1624991;1624982;1624993;1625000;1358736;1624996;1624998;1580863;2292548;6480464;8554872 15048662;16005997;16474401;17016522;17074317;17258772;17451674;8742444;8823764 10206230;10391209;10581480;10816555;11140333;11140838;11150294;11205431;11300730;11343611;11502363;11525423;11526472;11888546;11916537;11988167;12006486;12007749;12086765;12111480;12145300;12192608;12425817;12454564;12477932;12518270;12627464;12650852;12668355;12682077;12707936;12759158;12767050;12858032;12877392;12970106;1302605;14574222;14602721;14699441;14722258;15052272;15102340;15109354;15123239;15147464;15167695;15241435;15304380;15309390;15313842;15318026;15381968;15489334;15518545;15551195;15562295;15581469;15635667;15666332;15695058;15717291;15772651;15831837;15864111;15927089;15935077;15953671;16021472;16157158;16195233;16258205;16319069;16382194;16433010;16464220;16633140;16682118;16741915;16754659;16770336;16857671;16914526;16959425;17039480;17055531;17098333;17102980;17192951;1722404;17275977;17291373;17558446;17625040;17632216;17697626;17702092;17728663;17767148;17848916;17901921;17964050;18029348;18079067;18083778;18086475;18192901;18205001;18211617;18240029;18270970;18303585;18336767;18389501;18460774;18499489;18504633;18515891;18562401;18593952;18703043;18715570;18718676;18768750;18802918;18855532;19005330;19032968;19038234;19057895;19058789;19077438;19086053;19106782;19142101;19142110;19156168;19193342;19339052;19411841;19416518;19434072;19439249;19445671;19455600;19474754;19496825;19614978;19636338;19653017;19690620;19829168;19874574;19913121;19956635;19997080;20010449;20010450;20015120;20022223;20045196;20060656;20065966;20071033;20075642;20092861;20195292;20345755;20351714;20394819;20407490;20415561;20435093;20452754;20453482;20468064;20494452;20504252;20520301;20538346;20538960;20545463;20562674;20628086;20680028;20734064;20846463;20948451;21037584;21185157;21614492;21717509;21937795;21967853;22123816;22397586;22404657;22414959;22497996;22593582;22764241;22766135;22926610;22967772;23345234;23375407;23494383;23537943;23609402;23765961;24089568;24386118;7557992;7582481;7700379;7895773;8812491;9153397;9241279;9537516;9928237 3358 K9J958;P28335 ABBA01053581;ABBA01053582;ABBA01053583;ABBA01053584;ABBA01053585;ABBA01053586;ABBA01053587;ABBA01053588;ABBA01053589;ABBA01053590;ABBA01053591;ABBA01053592;ABBA01053593;ABBA01053594;ABBA01053595;ABBA01053596;ABBA01053597;ABBA01053598;ABBA01053599;ABBA01053600;ABBA01053601;ABBA01053602;ABBA01053603;ABBA01053604;ABBA01053605;ABBA01053606;ABBA01053607;ABBA01053608;ABBA01053609;ABBA01053610;ABBA01053611;ABBA01053612;ABBA01053613;ABBA01053614;ABBA01053615;ABBA01053616;ABBA01053617;ABBA01053618;ABBA01053619;AC004822;AC007022;AC007025;AC233299;AF208053;AF498983;AK295753;AK308766;AL355812;AL590097;AL591402;AMYH02040267;AMYH02040268;AMYH02040269;AMYH02040270;BC028688;BC095543;BX648587;CH471120;FJ200493;M81778;NG_012082;NM_000868;NM_001256760;NM_001256761;U49516;X80763 AAA60317;AAB40898;AAC71658;AAF35842;AAH95543;AAM21130;ACO54890;BAG58583;CAB59978;EAX02623;EAX02624;NP_000859;NP_001243689;NP_001243690;P28335 Hs.149037 1654583;1655000;1666825;1691602;1716775;1745383;1781146;1788618;1796034;2115503;2118040;2130086;2135715;2140333;2176907;5016033 AL008895;AL008896;AL008908;AL022533;AL023919;AL032548;BB315810;DXS7598;GDB:603978;HTR2C;HTR2C_347;RH11284;RH121682;RH1706;RH70924;stdJ788M24T7 5-HT-1C;5-HT-2C;5-HT1C;5-HT2C;5-HTR2C;5HTR2C;HTR1C 5-hydroxytryptamine receptor 1C;5-hydroxytryptamine receptor 2C;5-hydroxytryptamine receptor-1c;OTTHUMP00000023868;OTTHUMP00000023869;OTTHUMP00000023870;serotonin 5-HT-2C receptor;serotonin receptor 2C 1643316 BW239_H APPROVED protein-coding ENSG00000147246 HGNC:5295 02429 312861 REVIEWED 69153 HTR5BP 5-hydroxytryptamine (serotonin) receptor 5B, pseudogene 2 2 2 q14.1 111944217 111988501 + 118617003 118661256 + 117859427 117903680 + 11343685 645694 AB065453;ABBA01045946;ABBA01045947;AC009404;AJ308679;AJ308680;AMYH02004633;AMYH02004634;NG_008325 1802742;1806364;1806716;1807382;1809500;1812042;1814710;1815252;1817098;1818100;1827338;1828620;1828810;1833602;1835954;1837260;1843840;1878150;1878152;1878154;1878156;1878158;1878160;1878162;1878164;1878166;1878168;1878170;1878172;1878174;1878176;1878178;1878180;1878182;1878184;1878186;1878188;1878190;1878192;1878194;1878196;1878198;1878200;1878202;1878204;1878206;1878208;1878210;1878212;1878214;1878216;1878218;1878220;1878222;1878224;1878226;1878228;1878230;1878232;1878234;1878236;1878238;1878240;1878242;1878244;1878246;1878248;1878250;1878252;1878254;1878256;1878258;1878260;1878262;1878264;1878266;1878268;1878270;1878272;1878274;1878276;1878278;1878280;1878282;1878284;1878286;1878288;1878290;1878292;1878294;1878296;1878298;1878300;1878302;1878304;1878306;1878308;1878310;1878312;1878314;1878316;1878318;1878320;1878322;1878324;1878326;1878328;1878330;1878332;1878334;1878336;1878338;1878340;1878342;1878344;1878346;1878348;1878350;1878352;1878354;1878356;1878358;1878360;1878362;1878364;1878366;1878368;1878370;1878372;1878374;1878376;1878378;1878380;1878382;1878384;1878386;1878388;1878390;1878392;1878394;1878396;1878398;1878400;1878402;1878404;1878406;1878408;1878410;1878412;1878414;1878416;1878418;1878420;1878422;1878424;1878426;1878428;1878430;1878432;1878434;1878436;1878438;1878440;1878442;1878444;1878446;1878448;1878450;1878452;1878454;1878456;1878458;1878460;1878462;1878464;1878466;1878468;1878470;1878472;1878474;1878476;1878478;1878480;1878482;1878484;1878486;2199678;2199680;2199682;2199684;2199686;2199688;2199690;2199692;2199694;2199696;2199698;2199700;2199702 ECD02258;ECD04137;ECD04315;ECD04662;ECD05742;ECD07026;ECD08386;ECD08661;ECD09598;ECD10106;ECD14784;ECD15437;ECD15532;ECD17945;ECD19138;ECD19797;ECD23131;REN9762;REN9763;REN9764;REN9765;REN9766;REN9767;REN9768;REN9769;REN9770;REN9771;REN9772;REN9773;REN9774;REN9775;REN9776;REN9777;REN9778;REN9779;REN9780;REN9781;REN9782;REN9783;REN9784;REN9785;REN9786;REN9787;REN9788;REN9789;REN9790;REN9791;REN9792;REN9793;REN9794;REN9795;REN9796;REN9797;REN9798;REN9799;REN9800;REN9801;REN9802;REN9803;REN9804;REN9805;REN9806;REN9807;REN9808;REN9809;REN9810;REN9811;REN9812;REN9813;REN9814;REN9815;REN9816;REN9817;REN9818;REN9819;REN9820;REN9821;REN9822;REN9823;REN9824;REN9825;REN9826;REN9827;REN9828;REN9829;REN9830;REN9831;REN9832;REN9833;REN9834;REN9835;REN9836;REN9837;REN9838;REN9839;REN9840;REN9841;REN9842;REN9843;REN9844;REN9845;REN9846;REN9847;REN9848;REN9849;REN9850;REN9851;REN9852;REN9853;REN9854;REN9855;REN9856;REN9857;REN9858;REN9859;REN9860;REN9861;REN9862;REN9863;REN9864;REN9865;REN9866;REN9867;REN9868;REN9869;REN9870;REN9871;REN9872;REN9873;REN9874;REN9875;REN9876;REN9877;REN9878;REN9879;REN9880;REN9881;REN9882;REN9883;REN9884;REN9885;REN9886;REN9887;REN9888;REN9889;REN9890;REN9891;REN9892;REN9893;REN9894;REN9895;REN9896;REN9897;REN9898;REN9899;REN9900;REN9901;REN9902;REN9903;REN9904;REN9905;REN9906;REN9907;REN9908;REN9909;REN9910;REN9911;REN9912;REN9913;REN9914;REN9915;REN9916;REN9917;REN9918;REN9919;REN9920;REN9921;REN9922;REN9923;REN9924;REN9925;REN9926;REN9927;REN9928;REN9929;REN9930;stSG618904;stSG618905;stSG618906;stSG618907;stSG618908;stSG618909;stSG618910;stSG618911;stSG618912;stSG618913;stSG618914;stSG618915;stSG618916 5-HT5B;GPR134;HTR5B APPROVED pseudo HGNC:16291 INFERRED 1604760 HTR7P1 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 INTERACTS WITH valproic acid 12 12 12 p13.1 18302245 18306627 + 13153376 13157764 + 13000442 13004830 + 6480464 9473718 93164 ABBA01067857;AC007688;AK125093;AMYH02026067;NR_002774;U86813 Hs.593282;Hs.722632 2172779 G31534 HTR7P APPROVED pseudo ENSG00000183935 HGNC:30411 VALIDATED 735325 HTR5A 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 149280016 149294949 + 154862034 154879102 + 155070324 155087392 + 1580863;6480464;8554872 10779389;11287788;11317225;11343685;11916537;12477932;12558985;12627464;12690205;12853948;12930153;14702039;15489334;15581469;15921820;16516972;16701945;17203304;17881091;18079067;18240029;18253134;18577758;18802937;19086053;19156168;19328558;19381154;19455600;20388841;20468064;20734064;23903073;2834384;7988681;8978771;9847074 3361 A4D2N2;P47898 ABBA01015991;AC092628;AC093726;AF498985;AK094255;AMYH02017132;BC112021;BC113468;BX538209;CH236962;CH471149;NM_024012;X81411;X81412 AAI12022;AAI13469;AAM21132;AAP21864;AAS07542;ADR82961;BAG52850;CAA57168;EAL23726;EAX04526;NP_076917;P47898 Hs.65791;Hs.744621 1648555;1735668;1762637;1786274 D7S2131E;HTR5A;SHGC-145737;SHGC-146443 5-HT-5;5-HT-5A;5-HT5A;MGC138226 5-hydroxytryptamine receptor 5A;OTTHUMP00000199844;serotonin receptor 5A APPROVED protein-coding HGNC:5300 03198 601305 REVIEWED 1350689 HTRA4 HtrA serine peptidase 4 This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging. [provided by RefSeq, Oct 2008] 8 8 8 p11.22 37783269 37797679 + 38831668 38846181 + 38974149 38988662 + 6480464 12408815;12477932;14702039;15489334;16303743;18387192;22778138;22964307 203100 B4DTF7;P83105 ABBA01015933;ABBA01015934;AC108863;AK075205;AK300197;AMYH02017843;AY188774;BC057765;CH471080;CQ783299;DC423042;NM_153692;XM_005273428 AAH57765;BAC11470;BAG61969;CAF86511;EAW63290;NP_710159;P83105;XP_005273485 Hs.661014 1776781;1777524 RH36052;STS-H42485 FLJ90724 OTTHUMP00000225766;high-temperature requirement factor A4;probable serine protease HTRA4;serine protease HTRA4 APPROVED protein-coding ENSG00000169495 HGNC:26909 08818 610700 REVIEWED 1354015 HTRA3 HtrA serine peptidase 3 ENCODES a protein that exhibits endopeptidase activity; serine-type peptidase activity; INVOLVED IN proteolysis; negative regulation of BMP signaling pathway (ortholog); negative regulation of transforming growth factor beta receptor signaling pathway (ortholog); ASSOCIATED WITH VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid; benzo[a]pyrene 4 4 4 p16.1 8163395 8202090 + 8271487 8308838 + 8269760 8307111 + 1580863;6480464;7240710 12477932;12513693;14500695;15489334;16251496;16650464;17962403;18241672;18387192;19359045;19424634;19951697;20068077;20154083;20379614;20469960;21035848;21047919;21321049;21555518;22923201;23049902;23812730 94031 P83110 ABBA01008692;ABBA01008693;ABBA01008694;ABBA01008695;AC113611;AL547377;AMYH02008696;AW072765;AY040094;AY280665;AY280666;BC034390;BC035717;CH471131;DN996853;NM_001297559;NM_053044;XM_005248040 AAH34390;AAH35717;AAK71475;AAP42282;AAP42283;ABM82114;ABM85297;EAW82345;EAW82346;NP_001284488;NP_444272;P83110;XP_005248097 Hs.479119 1645675;1677018;1773467 A007I17;RH80395;WI-12525 Prsp;Tasp OTTHUMP00000036079;OTTHUMP00000217403;high-temperature requirement factor A3;pregnancy-related serine protease;probable serine protease HTRA3;serine protease HTRA3 protein-coding ENSG00000170801 HGNC:30406 08821 193235;608785 VALIDATED 733226 HTR6 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled This gene encodes a protein that belongs to the seven-transmembrane G protein-coupled receptor family of proteins. The encoded protein couples with the Gs alpha subunit and stimulates adenylate cyclase to activate the cyclic AMP-dependent signaling pathway. This receptor is thought to regulate cholinergic neuronal transmission in the brain. Several antidepressants and antipsychotic drugs have a high affinity for this receptor. [provided by RefSeq, Aug 2013] 1 1 1 p36-p35 18318551 18332825 + 19991780 20006055 + 19665287 19680966 + 729295;1580863;1358662;6480464 10624811;8522988 11140838;11163544;11287786;11524147;11725820;11888546;11889255;11916537;12023056;12036966;12057822;12477932;12579508;12618306;12627464;12650852;14698468;14741325;15048641;15482912;15489334;15531082;15737640;15823158;15896229;16094384;16633140;16640790;16682118;16701945;16770336;17189269;18079067;18197272;18240029;18253134;18577758;18583979;18855532;19086053;19095219;19156168;19193342;19455600;19590397;19636338;19782122;19936617;19997080;20093369;20170099;20394784;20464528;20468064;20602615;20705401;20737521;21273698;21329782;21728060;21829518;22278721;22745941;22833193;23027611;23542166;23844689;7656980;8619474;9110174 3362 P50406;Q59GI0 AB209129;ABBA01059767;AF007141;AL031727;AMYH02000422;AY429105;BC074995;BC074996;CH471134;L41147;NM_000871;Z49119 AAA92622;AAH74995;AAH74996;AAR07900;BAD92366;CAA88929;EAW94896;NP_000862;P50406 Hs.22180 1735970;2136856;5015404;5016478;5016596;5022651;5024756 D11S2921;D1S1958E;GDB:434012;GDB:631802;L17705;RH80030;SHGC-74305 5-HT-6;5-HT6;5-HT6R 5-hydroxytryptamine receptor 6;OTTHUMP00000002795;serotonin receptor 6 APPROVED protein-coding HGNC:5301 03066 601109 REVIEWED 1346949 HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008] 10 10 10 q21-q24 86247007 86364124 - 92500575 92617671 - 90740818 90857914 - 1580863;6482181;6482182;6480665;6480666;6482184;6480686;6480667;6482178;6482186;6480673;6480464;6482179;6482188;6482189;6482190 15050708;16828124;17267119;17485199;18167178;18332680;18570192;20236348;20969855;21046636;21558435;21693130;21843960;22465320 10490701;11163544;11888546;11906971;11916537;12036966;12446729;12477932;12767050;14741325;15086532;15489334;15581469;15896881;16192982;16385451;16870886;16935469;17321075;17406648;17428232;17936759;18079067;18240029;18243350;18577758;18855532;19086053;19156168;19233240;19439818;19455600;20468064;20602615;20827463;21184583;21424680;22245496;22543085;23355731;7601444;7656980;8226867;8398139;9084407;9154233;9298538 3363 P34969 AB451482;ABBA01021931;AK292606;AL360011;AMYH02023518;AY493988;BC047526;BG108256;CH471066;L21195;NG_029218;NM_000872;NM_019859;NM_019860;U68487;U68488;U68492 AAB48393;AAB48394;AAB48397;AAC37538;AAF07217;AAF07218;AAH47526;AAR87480;BAF85295;BAG70296;EAW50118;EAW50119;EAW50120;NP_000863;NP_062873;NP_062874;P34969 Hs.73739 1340723;1760239;1796036;2138623;5018011;7185039 D10S564;HTR7;HTR7_1275;RH66814;SHGC-132538 5-HT-7;5-HT-X;5-HT7 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled);5-hydroxytryptamine receptor 7;OTTHUMP00000020077;OTTHUMP00000020078;OTTHUMP00000020079;OTTHUMP00000020080;serotonin 5-HT-7 receptor;serotonin receptor 7 APPROVED protein-coding ENSG00000148680 HGNC:5302 01639 182137 REVIEWED 1318943 HTRA2 HtrA serine peptidase 2 This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined. [provided by RefSeq, Jul 2008] 2 2 2 p12 74587640 74591791 + 74756532 74760683 + 74529405 74533556 + 1580863;2314385;5688714;5688746;5688747;5688381;5688367;5688393;5688392;5688376;5688749;5688723;5688370;5688395;5688722;5688748;5688394;5688372;6480464;6907045;7240710;8699517;8554872 12887511;14534547;15306124;15509788;15611365;15961413;16978742;17207090;18241672;18364387;18401856;18662332;19424634;21132459;21163861;21338583;21701785 10644717;10873535;10971580;10995577;11583623;11602612;11604410;11606597;11801603;11803371;11967569;12477932;12815069;12835328;12865429;14605674;14645012;15036614;15044455;15200957;15201285;15236609;15294909;15300255;15328349;15489334;15507451;15781261;15815621;16007220;16413409;16713569;16968707;17130845;17266347;17297443;17311912;17684015;17718385;17906618;17922292;18060880;18221368;18259191;18309324;18362145;18606591;18769594;18790661;18800009;18979398;19076428;19224617;19355862;19502560;19570340;19631192;19656851;19680265;19763263;20012177;20036034;20122399;20125124;20202124;20301402;20469960;20562859;20614026;20639865;20651226;20877624;20938363;20972909;21139048;21198825;21486948;21701498;21732781;21883444;21890473;21906983;21908615;22001920;22246992;22265821;22391154;22490291;22503729;22505724;22641346;22923201;22939629;22976834;23000965;23123883;23159167;23242108;23306356;23457469;23479728;23542127;23581228;23608143;23682386;24090154;24698088;24816145;25015289;8125298 27429 O43464 ABBA01075602;AC005041;AF020760;AF141305;AF141306;AF141307;AF184911;AK225932;AK291977;AK310163;AMYH02004091;BC000096;BF939362;CH471053;NG_012163;NG_033037;NM_013247;NM_145074;XM_005264266 AAB94569;AAF66596;AAF66597;AAF66598;AAG13126;AAH00096;ABM82748;ABM85935;ABW03759;BAF84666;EAW99617;EAW99618;EAW99619;EAW99620;EAW99621;NP_037379;NP_659540;O43464;XP_005264323 Hs.469045;Hs.744841 1650052;1672990;1734814;1739293;1847028;2107273;2189429 A006U29;BCD2341;D2S1577E;D2S1958E;LOXL3__6411;MARC_5801-5802:991939731:1;RH15974 OMI;PARK13;PRSS25 HtrA-like serine protease;OTTHUMP00000160415;OTTHUMP00000160416;OTTHUMP00000202723;Omi stress-regulated endoprotease;high temperature requirement protein A2;protease, serine, 25;serine protease 25;serine protease HTRA2, mitochondrial;serine proteinase OMI APPROVED protein-coding ENSG00000115317 HGNC:14348 05919 606441;610297 REVIEWED 1346871 HTX2 heterotaxy 2 (autosomal dominant) ASSOCIATED WITH CONOTRUNCAL HEART MALFORMATIONS (inferred); HETEROTAXY, VISCERAL, 2, AUTOSOMAL (inferred); TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2 (inferred) 7240710 7747776 3348 HGNC:5306 217095;605376;613853 732659 HTRA1 HtrA serine peptidase 1 This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 117953296 118006683 + 124221041 124274424 + 122461525 122514908 + 1580863;6480464;7240710;7394694;7394720;7394751;7394697;7394695;7394719;7394724;7394749;7394745;7387322;7394693;7394713;7394721;7394722;7387295;8554872;8699517 17426452;18164066;18207215;18436811;18682806;19680273;19796758;19933195;20157352;21682878;21844367;22618592;22800422;22893068;23326481 12242667;12477932;12513693;14500695;14702039;14716297;14973287;15101818;15231748;15855271;15917099;16344560;16377621;16385451;16650464;16767218;17053108;17053109;17072861;17094466;17292962;17438519;17568988;17679948;17692272;17718385;17884985;17904186;17962403;18079691;18156628;18161619;18162041;18206206;18241672;18301036;18316707;18362109;18427598;18452160;18511946;18515590;18681782;18682812;18718667;18806297;18939352;19001225;19026638;19056122;19065273;19117936;19169232;19187590;19199708;19202148;19255159;19259132;19301262;19375943;19387015;19424634;19470753;19491722;19636338;19657146;19688690;19783326;19798546;19845562;19913121;19948975;20132989;20140183;20238042;20346514;20378180;20379614;20381870;20385819;20385826;20388781;20437615;20445115;20456446;20469960;20533271;20538655;20576771;20606025;20628086;20664794;20671064;20678803;20688737;20861866;20881291;20888482;20940247;20943460;21031019;21060055;21067572;21115960;21122828;21163940;21191724;21203342;21282580;21297635;21320870;21387310;21402993;21558292;21622153;21665990;21708937;21817962;21882634;21899153;21959923;21988832;22049084;22155582;22259222;22487577;22491416;22535953;22556410;22578544;22582805;22694956;22705344;22761798;22865667;22900900;22923201;22935172;23056244;23060141;23079781;23083999;23204795;23209669;23326517;23337555;23362846;23414945;23455636;23478260;23577725;23580433;23582991;23592924;23644223;23673665;23687431;23712470;23747913;23963851;24013816;24080590;24535794;24846539;24854852;24907345;8619474;8977104;9110174;9344681;9852107 5654 H0Y7G9;Q92743 ABBA01062844;ABBA01062845;AF070555;AF097709;AF157623;AI423369;AK091944;AK092476;AK290089;AMYH02023950;BC011352;BC031082;BM993893;BX842242;CH471066;D87258;DA633502;NG_011554;NM_002775;Y07921 AAC97211;AAD41525;AAH11352;AAI56553;AAI72536;BAA13322;BAF82778;BAG52446;BAG52557;CAA69226;EAW49312;EAW49313;NP_002766;Q92743 Hs.501280 2154455;2156541;2164366;2164368;2217854;5111146 A005Z02;G06946;G20611;IB2169;PRSS11_3850;RH69852 ARMD7;CARASIL;HtrA;L56;ORF480;PRSS11 IGFBP5-protease;OTTHUMP00000020664;OTTHUMP00000063514;high-temperature requirement A serine peptidase 1;protease, serine, 11;protease, serine, 11 (IGF binding);serine protease HTRA1 APPROVED protein-coding ENSG00000166033 HGNC:9476 03725 600142;602194;610149 REVIEWED 1344314 HUNK hormonally up-regulated Neu-associated kinase ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN multicellular organismal development (inferred); protein phosphorylation (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; fonofos; parathion 21 21 21 q22.1 18427991 18558682 + 33245628 33376377 + 31873315 32004064 + 1580863;6480464;8554872 10662544;10830953;11129044;15575376;17203973;19717424;19890347;20133759;20379614;20467438;21107309;21393859;21490949;21706016;22889411;23382691;24250222 30811 H7C2X2;H7C3H0;P57058 ABBA01057305;ABBA01057306;ABBA01057307;ABBA01057308;AF086072;AJ271722;AMYH02037720;AMYH02037721;AP000256;AP000257;AP000258;AP000259;AP000260;CH471079;KF457205;KF457210;KF510538;KF511391;NM_014586 AAI56533;AAI72525;CAB71146;EAX09883;NP_055401;P57058 Hs.109437 1342300;1680944;1730638;1732259;1752603;1778800;2137982;2155432;2169048;2180919;2219152;5016596;5022200;7183187 D21S1966;D21S261;D21S312;D21S63;D55705;GDB:631802;HUNK__6615;L18426;SHGC-106436;SHGC-14065;SHGC-51915;SHGC-6824;SHGC-87581 B19 OTTHUMP00000107427;hormonally up-regulated neu tumor-associated kinase;hormonally upregulated Neu-associated kinase;hormonally upregulated neu tumor-associated kinase;serine/threonine protein kinase MAK-V;serine/threonine-protein kinase MAK-V protein-coding ENSG00000142149 HGNC:13326 09410 606532 VALIDATED 2293810 HULC hepatocellular carcinoma up-regulated long non-coding RNA 6 6 6 p24.3 9881779 9883416 + 8652442 8654079 + 8652209 8653846 + 17241883;22493738;22685290;23728852;23762823;24247585 728655 ABBA01022059;AL133261;AL161437;AMYH02013069;AY914050;NR_004855 Hs.214343 HCCAT1;LINC00078;NCRNA00078 APPROVED ncrna ENSG00000251164 HGNC:34232 612210 PROVISIONAL 5508855 HTT-AS HTT antisense RNA (head to head) 4 4 p16.3 3064973 3076241 - 3063246 3074514 - 16344560;21672921;23756188 100750326 ABBA01029477;AL390059;AL390065;AMYH02008625;AMYH02008626;AMYH02008627;DA153759;HG496680;NR_045414 Hs.575112 HTT-AS1;HTTAS;RP11-520M5.6 APPROVED ncrna HGNC:37118 VALIDATED 68472 HTT huntingtin Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 2987658 3157211 + 3076408 3245687 + 3074681 3243960 + 1358375;1304431;1302537;1580863;1302572;1300048;6480464;6902915;6907045;7240710;8699517;8554872 12957494;15337316;22731249;7774020;8898202 10332029;10353249;10410676;10434301;10441327;10770929;10801775;10823891;10958656;10974549;11008591;11013077;11035034;11063258;11092755;11105061;11121205;11137014;11149616;11172033;11264541;11319238;11379408;11432963;11442349;11461154;11468270;11487199;11595021;11607033;11642542;11738012;11739372;11745989;11788820;11792860;11807410;11839795;11854752;11870213;11906693;11939977;11971872;11973620;11988536;12062094;12135980;12191472;12204002;12354289;12354780;12379151;12393306;12393793;12417652;12427879;12456676;12466534;12477932;12548366;12555240;12569151;12604778;12657678;12682342;12783847;12784292;12799135;12807877;12810713;12824708;12873381;12881483;12881722;12952868;12956863;1302016;14527999;14570710;14570907;14572927;14617779;14657499;14713958;14714490;14743370;14978262;14985437;15032971;15064418;15140195;15140196;15163634;15225551;15240759;15261377;15273431;15312898;15316797;15338298;15340079;15351733;15359012;15371500;15383276;15468075;15496672;15603740;15610167;15654337;15689617;15716522;15717026;15809304;15815621;15832309;15837803;15843398;15890517;15911879;15916486;15936278;15951191;15994095;15996546;16006135;16085648;16091361;16115810;16115812;16162412;16169070;16183657;16192271;16204350;16278683;16286508;16324236;16365166;16391387;16417581;16452635;16456924;16473015;16492755;16522639;16595690;16606912;16729030;16777606;16782707;16835690;16968735;16973623;17012230;17098699;17115386;17124493;17126554;17135277;17141218;17151278;17161366;17189290;17201528;17208201;17240517;17276991;17299753;17361007;17403029;17409200;17433700;17500595;17519223;17548833;17603015;17610899;17611284;17660463;17687393;17704510;17708681;17902043;17941857;17947297;17948889;17952586;17975550;17989880;18006506;18029348;18029446;18063376;18065495;18068007;18078716;18091069;18157708;18166084;18255062;18267960;18337408;18380890;18400894;18445618;18504298;18558632;18586675;18632688;18640989;18649400;18651325;18669659;18718937;18772195;18831068;18922795;18981372;18986984;18992820;19018245;19026253;19027857;19039036;19059613;19115052;19130884;19133136;19196932;19204007;19240033;19240112;19249009;19250382;19266143;19268537;19270310;19270701;19289118;19361448;19386911;19451134;19488402;19492089;19498170;19525941;19566678;19628478;19656852;19661690;19667213;19710014;19726651;19748341;19752198;19776381;19915590;19916101;19933700;19969308;20016493;20016831;20018729;20026071;20026656;20056037;20064390;20097678;20126661;20140226;20145253;20154145;20204693;20232225;20301334;20301482;20360314;20379614;20417604;20444706;20494921;20531388;20708032;20710011;20800603;20858895;20864123;20864533;20875859;21044956;21087194;21139048;21147489;21169558;21177255;21192926;21209075;21245084;21248742;21257639;21280221;21310951;21315254;21320997;21322024;21336284;21364626;21454471;21458571;21465263;21482444;21501628;21509658;21515588;21518730;21519949;21540131;21566141;21685499;21875723;21887328;21889504;21889981;21890473;21896647;21954231;21968397;21971427;21983719;21984825;21985783;21997870;22011578;22048026;22072510;22100810;22101303;22103299;22110140;22119730;22123826;22162197;22178474;22178478;22179316;22219281;22234237;22235343;22306231;22306738;22337954;22352297;22359536;22375012;22399227;22409360;22422149;22433867;22445760;22505724;22511757;22536159;22556411;22573320;22580459;22623107;22642889;22735540;22801429;22815947;22863883;22891683;22906125;22917585;22974559;22984513;23000965;23012356;23051704;23071649;23115180;23160193;23190281;23225006;23275563;23297360;23300147;23305455;23315009;23319588;23339311;23370273;23383273;23443539;23575829;23583659;23624566;23652004;23768628;23774650;23898200;23908352;23966247;23980182;24054538;24081492;24196953;24199621;24217578;24291262;24314096;24407293;24412307;24459107;24505464;24584051;24722188;24769000;24784230;24798518;24816145;24819723;24836077;24865853;24882209;24951540;25015289;25062733;7477378;7568002;7647777;7748555;7759106;7903579;7951324;8162057;8197474;8458085;8612237;8696339;8702625;9079622;9147654;9152833;9454836;9466992;9535906;9599014;9668110;9700202;9778247;9809064 3064 H0YA07;P42858 AB016794;AB209506;ABBA01029474;ABBA01029475;ABBA01029476;ABBA01029477;AK025918;AK290544;AL390059;AMYH02008627;AMYH02008628;AMYH02008629;BC014028;CH471131;KJ535072;L12392;L20431;L27350;L27351;L27352;L27353;L27354;L27355;L27356;L27357;L27358;L27359;L27360;L27361;L27362;L27363;L27364;L27365;L27366;L27367;L27368;L27369;L27370;L27371;L27372;L27373;L27374;L27375;L27376;L27377;L27378;L27379;L27380;L27381;L27382;L27383;L27384;L27385;L27386;L27387;L27388;L27389;L27390;L27391;L27392;L27393;L27394;L27395;L27396;L27397;L27398;L27399;L27400;L27401;L27402;L27403;L27404;L27405;L27406;L27407;L27408;L27409;L27410;L27411;L27412;L27413;L27414;L27415;L27416;L34020;NG_009378;NM_002111;Y07981;Y07982;Y07983;Y07984;Y07985;Y07986;Y07987;Z49154;Z49155;Z49769;Z69837 AAA52702;AAB38240;AAI72756;AHW56711;BAA36753;BAD92743;BAF83233;CAA89024;CAA89025;CAA89839;EAW82474;EAW82475;EAW82476;EAW82477;EAW82478;NP_002102;P42858 Hs.518450 1679327;1693836;1742605;1743417;1743639;1768920;1792888;1792890;1793302;1850003;1857536;2109383;2126399;2130632;2134327;2135368;2138558;2143070;2145063;2161905;2186085;5120297;5120636;5120720 D4S1337;D4S2663;D4S281;D4S3290;G33683;G42605;GDB:197987;GDB:249651;GDB:316174;GDB:363582;GDB:363587;GDB:372940;HD__6704;PMC166399P1;PMC166399P2;PMC20760P1;RH66772;SHGC-30823;SHGC-50176;SHGC-51023;SHGC-59533;SHGC-67369;SHGC-67859;WI-20376 HD;IT15 OTTHUMP00000217025;huntington disease gene homolog;huntington disease protein APPROVED protein-coding ENSG00000197386 HGNC:4851 00883 143100;164230;607834;613004 REVIEWED 1318030 HUS1 HUS1 checkpoint homolog (S. pombe) The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] 7 7 7 p13-p12 48103051 48118524 - 48002885 48019222 - 47963285 47979625 - 1580863;6480464 10359610;10777662;10846170;10852904;10884395;11077446;11573955;11907025;11920544;11944979;11994305;12228248;12477932;12578958;12690205;12791985;14500360;14611806;15122316;15161933;15314187;15489334;15556996;15871698;15897895;16216273;16731526;16814252;17353931;17395641;17493829;17583730;17855402;18029348;18156970;18162465;18676680;18794804;18950845;19170196;19193627;19464297;19523882;19535328;19615952;19625176;19692168;20188637;20453000;20545769;20847938;21890473;21906983;21963094;21978893;21988832;22586102;22926736;23000965;24062075;24163370;9524127;9828130;9872989;9878245 3364 A4D2F2;C9JA95;C9JCK8;F8WAW9;H7C272;O60921 ABBA01041081;AC069282;AF076844;AF110393;AF503165;AJ227901;AK290459;AK294117;AMYH02015664;AMYH02015665;BC007013;BG286955;BT019481;BT019482;CA438762;CH236958;CH471128;CR536552;KF458457;NM_004507;NR_037917;XR_428079;XR_428080;Y16893 AAC95526;AAD25350;AAH07013;AAM18968;AAV38288;AAV38289;BAF83148;BAG57450;CAA76518;CAG38789;EAL23807;EAW61001;EAW61002;NP_004498;O60921 Hs.152983 1691352;5014063;5016478;5037552 D15S1390;D8S2279;G41778;GDB:434012 hHUS1 OTTHUMP00000208364;OTTHUMP00000208365;OTTHUMP00000208366;OTTHUMP00000208378;checkpoint protein HUS1;hus1+-like protein APPROVED protein-coding ENSG00000136273 HGNC:5309 04787 603760 REVIEWED 1343412 HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic mental retardation. [provided by RefSeq, Aug 2013] X X X p11.22 57390630 57545232 - 53559057 53713697 - 53532096 53686729 - 6480464;6484113;6907045;7240710;8554872;8699517 10997877;10998601;11042152;12477932;12938929;14702039;15231748;15302935;15489334;15567145;15767685;15772651;15840729;15989956;15989957;16196087;16213503;16269333;16964243;17081983;17203973;17314511;17478428;17550899;17567951;18029348;18047645;18187620;18252223;18488021;18598940;18775313;19013454;19056867;19148187;19596235;19615732;19713937;19946888;20007713;20023629;20164180;20534529;20624960;20639865;21139048;21145461;21167302;21298030;21507240;21522127;21613222;21726556;21730980;21846774;21890473;21906983;21907705;21910689;21963094;21987572;22016339;22053931;22108332;22174317;22190034;22203964;22213803;22268729;22277673;22505724;22552282;22561347;22586326;22748923;22840365;22863883;22939629;22944692;23000965;23209776;23254330;23314748;23349634;23383273;23438482;23443559;23602568;23652204;23752268;24303071;24342616;24443563;24472556;24643799;24797263;24811749;24816145;24960692;25015289;25022756;7478539;7943042;7968380;8125298;9205841;9575161 10075 F6WK14;H0Y659;Q5H962;Q5H963;Q7Z6Z7 AB002310;AB071605;ABBA01056430;ABBA01056431;ABBA01056432;ABBA01056433;ABBA01056434;ABBA01056435;ABBA01056436;ABBA01056437;ABBA01056438;ABBA01056439;ABBA01056440;ABBA01056441;ABBA01056442;ABBA01056443;ABBA01056444;ABBA01056445;ABBA01056446;ABBA01056447;AC231658;AF057569;AF161390;AK056671;AK091352;AK223167;AK294575;AL162050;AL592046;AMYH02039468;AY772009;AY929612;BC002602;BC018750;BC038184;BC063505;BC072421;BC107576;BG334536;BU619074;BX323845;CH471154;CK002817;CR456813;CS228272;DQ097177;NG_016261;NM_031407;R60532;XM_005261965;XM_005261966;XM_005261967;XM_005261968;XM_005261969;XM_005261971;XM_005261972;XM_006724574;Z94044;Z97054 AAC62492;AAF28950;AAH02602;AAH18750;AAH38184;AAH63505;AAI07577;AAV90838;AAX24125;AAY98258;BAA20771;BAC06833;BAD96887;BAG57767;CAB82393;CAG33094;CAI39578;CAI39579;CAI39580;CAI39581;CAI42351;CAI42352;CAI42353;CAI42354;CAI42644;CAI42654;CAI42656;CAJ47378;EAW93160;EAW93161;EAW93162;EAW93163;EAW93164;EAW93165;EAW93166;NP_113584;Q7Z6Z7;XP_005262022;XP_005262023;XP_005262024;XP_005262025;XP_005262026;XP_005262028;XP_005262029;XP_006724637 Hs.136905 1652514;1656429;1685882;1705160;1723851;1851017;1853606;2123786;2125598;2140941;2158854;2162453;2169535;2169962;2185971;2189437;2191149;5113968;5491262 AL023608;AL023918;DXS8230;GDB:314533;IB772;L77820;MARC_15341-15342:1017678837:1;MARC_5969-5970:991939821:1;MARC_6753-6754:992007394:1;RH11216;RH118662;RH46399;RH65358;RH66308;RH79713;SHGC-80022;WI-12365;WI-14649;WI-19261 ARF-BP1;HECTH9;HSPC272;Ib772;KIAA0312;LASU1;MULE;URE-B1;UREB1 ARF binding protein 1;ARF-binding protein 1;BJ-HCC-24 tumor antigen;E3 ubiquitin-protein ligase HUWE1;HECT domain protein LASU1;HECT, UBA and WWE domain-containing protein 1;Mcl-1 ubiquitin ligase E3;OTTHUMP00000023356;OTTHUMP00000023357;URE-binding protein 1;homologous to E6AP carboxyl terminus homologous protein 9;large structure of UREB1;upstream regulatory element-binding protein 1 APPROVED protein-coding ENSG00000086758 HGNC:30892 06608 300697;300706 REVIEWED 1351495 HV1S herpes simplex virus type 1 sensitivity 1034214 3365 HGNC:5310 1346290 HUS1B HUS1 checkpoint homolog b (S. pombe) The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. [provided by RefSeq, Jul 2008] 6 6 6 p25.3 1883309 1884334 - 655939 656964 - 655939 656964 - 6480464 11944979;12477932;14500360;14574404;14611806;15489334;20453000;22773346 135458 Q8NHY5 ABBA01048665;AF508547;AI446694;AL357054;AMYH02012957;BC101697;BC101699;CH471087;NM_148959 AAI01698;AAI01700;AAM28904;EAW55063;NP_683762;Q8NHY5 Hs.669039 5492497;5493207 UniSTS:481344;UniSTS:485332 MGC126746;MGC126748;RP11-532F6.1;hHUS1B OTTHUMP00000114799;checkpoint protein HUS1B APPROVED protein-coding ENSG00000188996 HGNC:16485 13722 609713 REVIEWED 1353766 HVBS4 hepatitis B virus integration site 4 3016335 3367 HGNC:5312 1345845 HVBS6 hepatitis B virus integration site 6 2847975 3368 HGNC:5313 1349150 HVBS7 hepatitis B virus integration site 7 3369 HGNC:5314 1352470 HVBS8 hepatitis B virus integration site 8 p12-p11.2 2845134 3370 AC005375 protein-coding HGNC:5315 1603943 HVCN1 hydrogen voltage-gated channel 1 This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 12 12 12 q24.11 110713319 110754445 - 111086491 111130276 - 110648686 110698688 - 6480464;8554872 12477932;12975309;15342556;16344560;16554753;16556803;17948262;18356202;18509058;19233200;19255483;19805063;20018719;20037153;20139987;20144758;20147290;20543828;20548053;20676047;20693294;20961760;21124855;21821008;21843503;21890473;22020278;22056415;22367212;22388960;23352164;23352165;23891691;23940591;24379371 84329 F8VPF7;F8VS40;F8W0B3;Q96D96 ABBA01005117;AC144522;AK293543;AMYH02027189;AMYH02027190;AY359054;BC007277;BC009731;BC032672;BP369986;BP375483;CH471054;DB310328;GU211002;NM_001040107;NM_001256413;NM_032369;XM_005253948;XM_005253949;XM_006719640 AAH07277;AAH09731;AAH32672;AAQ89413;ADA61023;ADZ15859;BAG57024;EAW97933;EAW97934;EAW97935;EAW97936;EAW97937;NP_001035196;NP_001243342;NP_115745;Q96D96;XP_005254005;XP_005254006;XP_006719703 Hs.211511;Hs.334637 1651257 RH68803 HV1;MGC15619;VSOP OTTHUMP00000241453;OTTHUMP00000241454;OTTHUMP00000241455;OTTHUMP00000241456;voltage sensor domain-only protein;voltage-gated hydrogen channel 1 APPROVED protein-coding ENSG00000122986 HGNC:28240 17507 611227 VALIDATED 733698 HYAL2 hyaluronoglucosaminidase 2 This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010] 3 3 3 p21.3 50328056 50333116 - 50355221 50360281 - 50317790 50322850 - 1580863;6480464;8554872 10989127;11085536;11296287;11731268;11944887;12174938;12477932;12584308;12676986;12684632;14702039;15489334;15596803;15923194;16191204;16344560;16600643;16641997;16837837;16990026;17170110;17229709;18390475;18725949;19081476;19140316;19366691;19435493;19443707;19577615;20072653;20554532;20849597;20864512;20875124;21743962;23560496;8125298;8603390;8619474;9110174;9712871;9790770;9933825 8692 C9J700;C9JBF5;C9JSD1;C9JSI7;C9K016;Q12891 ABBA01024551;AC002455;AF070608;AJ000099;AJ844619;AJ844620;AK092449;AK127945;AK225635;AK310963;AMYH02006768;BC000692;BU626745;CH471055;DB033601;DC358776;DC384113;NM_003773;NM_033158;U09577;XM_005265524;XM_005265525 AAB67045;AAC28656;AAC62823;AAH00692;ABM84764;ABW03621;BAG52554;BAG54602;CAA03924;CAH59742;CAH59903;EAW65092;EAW65093;EAW65094;NP_003764;NP_149348;Q12891;XP_005265581;XP_005265582 Hs.76873 1650708;1678135;1793744;1793746;1793748;1793750;2107219;2182080;7184428 HYAL2__7513;PMC26875P5;PMC26875P6;PMC26875P7;PMC26875P8;RH91527;STS-U09577;STS-W79515 LUCA2;LuCa-2;hyal-2 OTTHUMP00000210886;OTTHUMP00000210887;OTTHUMP00000210888;OTTHUMP00000210889;PH-20 homolog;PH20 homolog;hyaluronidase 2;hyaluronidase-2;hyaluronoglucosaminidase-2;lung carcinoma protein 2;lysosomal hyaluronidase APPROVED protein-coding ENSG00000068001 HGNC:5321 04649 603551 REVIEWED 1352194 HYAL1 hyaluronoglucosaminidase 1 This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 50310151 50322647 - 50337320 50349812 - 50299889 50312381 - 1599811;1580863;6480464;7240710;8554872;8699517 10339581 10702795;11296287;11929860;11944887;12084718;12477932;12684632;12845686;14702039;15489334;16344560;16600643;16641997;16713680;16831275;16900089;17145867;17170110;17227790;17324121;17415544;17502371;17503783;18029348;18083358;18281563;18390475;18677769;18718911;18725949;19140316;19201751;19345473;19435493;19478093;19567141;19577615;20072653;20473947;20558613;20572808;20634891;20849597;20875124;20960509;21559944;21695196;21829529;21963094;21988832;23166824;8603390;8793927;9223416;9409739;9503017 3373 B3KUI5;C9JB49;C9JRK1;Q12794 ABBA01024552;AC002455;AF118821;AF173154;AF502904;AF502905;AF502906;AF502907;AF502908;AK097287;AK290816;AMYH02006767;AMYH02006768;BC025774;BC035695;CH471055;CR541933;DA566755;NG_009295;NM_033159;NM_153281;NM_153282;NM_153283;NM_153285;NR_047690;U03056;U73167;U90094;U96078 AAB67046;AAC02730;AAD04190;AAD09137;AAD24460;AAD53277;AAH25774;AAH35695;AAM60770;AAM60771;AAM60772;AAM60773;AAM60774;ABM85009;ABW03328;BAF83505;BAG53447;CAG46731;EAW65083;EAW65084;EAW65085;EAW65086;EAW65087;EAW65088;EAW65089;EAW65090;EAW65091;NP_149349;NP_695013;NP_695014;NP_695015;NP_695017;Q12794 Hs.75619 1721471;1771356;1793736;1793738;1793740;1793742;2117658;2127395;2219818 D3S4188;G59589;HYAL1__6616;PMC26875P1;PMC26875P2;PMC26875P3;PMC26875P4;STS-U03056;WIAF-2197 HYAL-1;LUCA1;MGC45987;NAT6;luCa-1 OTTHUMP00000211071;OTTHUMP00000211072;OTTHUMP00000211073;OTTHUMP00000211074;OTTHUMP00000211075;OTTHUMP00000211076;hyaluronidase 1;hyaluronidase-1;hyaluronoglucosaminidase-1;lung carcinoma protein 1;plasma hyaluronidase;tumor suppressor LUCA-1 APPROVED protein-coding ENSG00000114378 HGNC:5320 06146 601492;607071 REVIEWED 1344724 HYAL3 hyaluronoglucosaminidase 3 This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011] 3 3 3 p21.3 50303093 50309730 - 50330259 50336899 - 50292828 50299468 - 1580863;6480464 10339581;10493834;10989127;11296287;11731267;11929860;11944887;12084718;12477932;12684632;14514708;15489334;16203124;16344560;16600643;16641997;17170110;18390475;18639473;20586096;20849445;20849597;21988832;22960332;23549009 8372 C9JB51;O43820 ABBA01024552;AF036035;AF040710;AF502909;AF502910;AF502911;AF502912;AK313455;AMYH02006767;BC005896;BC012892;CH471055;DB269188;DB319349;NM_001200029;NM_001200030;NM_001200031;NM_001200032;NM_003549;U73167;U90094 AAC02729;AAC70915;AAD04257;AAH05896;AAH12892;AAM60775;AAM60776;AAM60777;AAM60778;ABM82218;ABM85402;BAG36242;EAW65071;EAW65072;EAW65073;EAW65074;EAW65075;EAW65076;NP_001186958;NP_001186959;NP_001186960;NP_001186961;NP_003540;O43820 Hs.129910;Hs.729310 1678967;1721471;1771356;1793740;1793742;1847897;2117658;2127395;2219154;2219818 D3S4188;G59589;HYAL1__6616;HYAL3__6618;PMC26875P3;PMC26875P4;RH80851;SHGC-76997;STS-U03056;WIAF-2197 HYAL-3;LUCA-3;LUCA14;LUCA3;Minna14 OTTHUMP00000211052;OTTHUMP00000211054;OTTHUMP00000219781;hyaluronidase 3;hyaluronidase-3;hyaluronoglucosaminidase-3;lung carcinoma protein 3 APPROVED protein-coding ENSG00000186792 HGNC:5322 604038 REVIEWED 1346836 HYALP1 hyaluronoglucosaminidase pseudogene 1 7 7 7 q31.3 118257968 118263259 + 123454193 123459484 + 123814139 123819430 + 10493834;12690205;20210993 26062 ABBA01057727;AC006029;AF149304;AMYH02016683;CH236947;NR_002731 EAL24332 Hs.381305 HYAL6 pseudo HGNC:5324 PROVISIONAL 1347409 HYAL4 hyaluronoglucosaminidase 4 This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. However, this protein has not yet been shown to have hyaluronidase activity. [provided by RefSeq, Jul 2008] 7 7 7 q31.3 118288992 118321308 + 123485220 123517532 + 123845166 123877478 + 6480464;8554872 10493834;10737800;10989127;12477932;19889881;20379614;23086929;9847074 23553 C9J6F9;C9JU18;F8WDH9;Q2M3T9 AB470346;ABBA01057726;AC006029;AF009010;AMYH02016684;BC104788;BC104790;BC143654;BF085228;BG013757;CH236947;CH471070;NM_012269;XM_005250238 AAC98883;AAD43186;AAI04789;AAI04791;BAI49593;EAL24331;EAW83603;NP_036401;Q2M3T9;XP_005250295 Hs.28673 1335149;2106503;2159716;2164251;5022450;5022578 D10S275;D1S1423;D7S1517;HYAL4__6619;RH71189;STS-W92156 CSHY;hyal-4 OTTHUMP00000212007;OTTHUMP00000212009;chondroitin sulfate endo-beta-N-acetylgalactosaminidase;chondroitin sulfate hydrolase;hyaluronidase 4;hyaluronidase-4;hyaluronoglucosaminidase-4 APPROVED protein-coding ENSG00000106302 HGNC:5323 05148 604510 REVIEWED 1352418 HYD2 hypodontia, autosomal recessive (2) ASSOCIATED WITH Tooth Agenesis, Selective, 2 (inferred) 7240710 9529357 8137 1337875 D16S3140 HGNC:13822 602639 1605738 HYDIN2 HYDIN2, axonemal central pair apparatus protein (pseudogene) 1 1 q21.1 132569 407510 - 146547489 146822034 + 11347906;14702039;15489334;15616553;16938426;17974005;23314748 100288805 AB058767;ABBA01188529;AC109135;AC137783;AC241929;AC242716;AC245407;AK027571;AL359176;AL360154;AL833826;AL834340;NR_103556 BAB47493;BAB55207;CAD38687;CAD39007 Hs.648712;Hs.722871 1652521;1687512;1692966;1703544;1714481;1738529;1738819;1753513;1756953;1761191;1762305;1783388;1783448;1783450;2133528;5121041 AL034199;D16S2709;D16S2880;D1S2593;G16268;RH119752;RH46892;RH91258;SHGC-107375;SHGC-144122;SHGC-145202;SHGC-146154;SHGC-153429;SHGC-79050;SHGC-81325;SHGC-82751 DKFZp761B238;DKFZp761M1613;FLJ14665;HYDINP1;KIAA1864 APPROVED pseudo HGNC:33129 610813 INFERRED 1601737 HYI hydroxypyruvate isomerase (putative) This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 1 1 1 p34.2 42199021 42201719 - 43916674 43919938 - 43450505 43454264 - 6480464;6907045 10561547;12107412;12477932;14702039;15862967;16189514;16341674;17207965;21906983;21963094;22490543;8889548 81888 E7EWH8;F6UJY1;F6UJY9;H0YB18;H0YB70;J9JIE9;Q5T013 ABBA01050956;AF284750;AF284751;AI023272;AK096244;AL583862;AMYH02000901;AY037165;AY775560;BC006140;BC019041;BM715679;BM826556;CA433653;CD672533;CH471059;JF911821;NG_029091;NM_001190880;NM_001243526;NM_031207;XM_005271239;XM_005271240;XM_006710937 AAG59852;AAG59853;AAH06140;AAH19041;AAK67642;AAV84474;ADQ32181;AEP69243;BAG53238;EAX07090;EAX07091;EAX07092;EAX07093;EAX07094;NP_001177809;NP_001230455;NP_112484;Q5T013;XP_005271296;XP_005271297;XP_006711000 Hs.709864 1688024;1696948;1699640 RH101946;RH103424;RH80143 HT036;MGC20767;RP11-506B15.5 OTTHUMP00000008689;OTTHUMP00000008690;OTTHUMP00000008691;OTTHUMP00000008692;OTTHUMP00000008693;OTTHUMP00000227777;OTTHUMP00000227778;OTTHUMP00000227779;endothelial cell apoptosis protein E-CE1;hydroxypyruvate isomerase homolog;putative hydroxypyruvate isomerase APPROVED protein-coding ENSG00000178922 HGNC:26948 11039 REVIEWED 1347981 HYDIN HYDIN, axonemal central pair apparatus protein This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013] 16 16 16 q22.2 54678628 54681256 + 70841287 71264625 - 70807384 71230722 - 634487;6480464;7240710;8554872;8699517 12719380 11347906;12477932;14702039;14985390;15342556;16344560;16938426;19389623;20301301;20379614;23022101;23144326;23314748;23936387 54768 F5GXK3;F5H8I6;F8WD03;H0YF91;H0YH52;J3KRJ6;J3KSY5;J3KTP9;J3QL30;J3QL79;J3QQJ7;Q4G0P3 ABBA01005490;ABBA01010649;ABBA01032106;ABBA01032107;ABBA01032108;ABBA01120532;ABBA01122930;ABBA01129483;ABBA01134509;ABBA01147534;ABBA01161681;ABBA01163924;ABBA01170919;ABBA01181235;ABBA01187804;ABBA01188843;ABBA01193821;ABBA01196799;ABBA01199931;ABBA01202693;ABBA01237312;ABBA01243837;AC027281;AC099495;AC138625;AC244605;AC245042;AC245456;AK022933;AK026688;AK057467;AK074472;AK299016;AK299348;AK308296;AL122038;AL133042;AL137259;AL705531;BC028351;BC043273;BP228881;CH471166;DA758908;DB079205;DB339472;JX501991;NG_033116;NM_001198542;NM_001198543;NM_001270974;NM_017558;XM_006721206 AAH28351;AAH43273;AFS65326;BAB14314;BAB15527;BAG61096;BAG61346;CAB59178;CAB61370;CAB70660;EAW59249;NP_001185471;NP_001185472;NP_001257903;NP_060028;Q4G0P3;XP_006721269 Hs.461229;Hs.744828;Hs.745353 1341447;1652521;1687512;1692966;1703544;1714481;1738529;1738819;1752139;1753513;1756953;1761191;1762305;1768577;1783388;1783448;1783450;2133528;7184480 AL034199;D16S2709;D16S2880;D16S3133;D16S403;G16268;RH119752;RH46892;RH77879;RH91258;SHGC-106042;SHGC-107375;SHGC-144122;SHGC-145202;SHGC-146154;SHGC-153429;SHGC-79050;SHGC-81325;SHGC-82751 CILD5;DKFZp434D0513;DKFZp434L0850;FLJ12871;FLJ14665;HYDIN1;HYDIN2;KIAA1864;PPP1R31 OTTHUMP00000174909;OTTHUMP00000238203;OTTHUMP00000238234;OTTHUMP00000238236;OTTHUMP00000238237;hydrocephalus inducing;hydrocephalus inducing homolog;hydrocephalus-inducing protein homolog;protein phosphatase 1, regulatory subunit 31 APPROVED protein-coding ENSG00000157423 HGNC:19368 11042 608647;610812 REVIEWED 6481389 HYI-AS1 HYI antisense RNA 1 p34.2 100873923 AL583862;BX112506 Hs.634915 APPROVED ncrna HGNC:41173 1606741 HYKK hydroxylysine kinase ENCODES a protein that exhibits hydroxylysine kinase activity (inferred); INVOLVED IN phosphorylation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); C60 fullerene (ortholog) 15 15 15 q25.1 55736426 55766032 + 78799906 78829715 + 78507564 78537373 + 6480464 12477932;16341674;18385676;18385738;18780872;19300482;19654303;19733931;20548021;20554942;20587604;21081471;21685187;21810735;21890473;21963094;22241472;22701590;22837378 123688 A2RU49 ABBA01060585;ABBA01060586;ABBA01060587;ABBA01060588;AC027228;AK126453;AMYH02030865;BC132753;BC144383;BM045979;BM826406;CH471136;DN831396;NM_001013619;NM_001083612;XR_243078 A2RU49;AAI32754;AAI44384;ADR83508;BAC86556;EAW99167;EAW99168;NP_001013641;NP_001077081 Hs.307962 1755675 SHGC-142521 AGPHD1 5-hydroxy-L-lysine kinase;5-hydroxylysine kinase;aminoglycoside phosphotransferase domain containing 1;aminoglycoside phosphotransferase domain-containing protein 1 APPROVED protein-coding ENSG00000188266 HGNC:34403 12515 614681 VALIDATED 1606679 HYLS1 hydrolethalus syndrome 1 This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008] 11 11 11 q24.2 122913542 122930564 + 125753509 125770541 + 125883614 125900646 + 6480464;7240710;8699517;8554872 10486328;12477932;14702039;15843405;16169070;17207965;18029348;18648327;20379614;21906983;24250222;8889548 219844 Q96M11 ABBA01031233;AK057477;AK127394;AMYH02025740;AP000842;BC015047;BM970011;CH471065;NG_011842;NM_001134793;NM_145014;XM_005271430;XM_006718777;XM_006718778 AAH15047;ADQ31909;BAB71503;BAG54500;EAW67665;EAW67666;NP_001128265;NP_659451;Q96M11;XP_005271487;XP_006718840;XP_006718841 Hs.98133 1298323;1335082;1662839;2151203 D11S933;D11S934;L02008;RH47976 FLJ32915;HLS OTTHUMP00000231319;OTTHUMP00000231320;hydrolethalus syndrome protein 1 APPROVED protein-coding ENSG00000198331 HGNC:26558 08148 236680;610693 REVIEWED 1345477 HYMAI hydatidiform mole associated and imprinted (non-protein coding) This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island, and is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010] 6 6 6 q24.2 145064475 145070320 - 144324023 144329867 - 144002886 144008730 - 6480464 10936046;11935319;12477932;15286800;16873690;16928428;20301706 57061 ABBA01025743;AF241534;AL109755;AMYH02014641;BC059359;NG_009384;NG_016174;NR_002768 Hs.657760 NCRNA00020 APPROVED ncrna HGNC:5326 606546 REVIEWED 1604376 HYPK huntingtin interacting protein K FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH cobalt dichloride; coumestrol; hydrogen peroxide 15 15 15 q15.3 20982083 20984249 + 44092619 44094787 + 43800421 43802589 + 6480464 11042152;12477932;14702039;16950395;17947297;18076027;20154145;21832049;22863883;22939629;23272104;24361604;24816145;9700202 25764 J3QT56;Q9NX55 ABBA01039223;AC018512;AF049613;AF161485;AK022435;AMYH02030324;BC019262;BQ478474;BQ772100;CH471082;NM_001199885;NM_016400 AAC26849;AAF29100;AAH19262;EAW77241;EAW77242;NP_001186814;NP_057484;Q9NX55 Hs.730672 1711310;1805632;1805984;1806156;1806558;1933758;1933760;1933762;1933764;1933766;1933768;1933770;1933772;1933774;1933776;1933778;1933780;1933782;1933784;1933786;1933788;1933790;1933792;2175857;5024039;5024413;5024761;5113089;5124309 D16S325;ECD03766;ECD03945;ECD04032;ECD04236;L17877;REN37712;REN37713;REN37714;REN37715;REN37716;REN37717;REN37718;REN37719;REN37720;REN37721;REN37722;REN37723;REN37724;REN37725;REN37726;REN37727;REN37728;REN37729;RH36905;RH39454;RH64965;SHGC-33350;SHGC-84907 C15orf63;HSPC136 OTTHUMP00000066513;OTTHUMP00000196872;huntingtin yeast partner K;huntingtin-interacting protein K APPROVED protein-coding ENSG00000140264 HGNC:18418 13724 612784 VALIDATED 1353521 HYPM huntingtin interacting protein M This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in individuals with Huntington's disease (PMID: 9700202). [provided by RefSeq, Aug 2011] X X X p21.1 41987730 41988230 + 37850070 37850570 + 37990817 37991317 + 12477932;18029348;23275563;9700202 25763 O75409 ABBA01047070;AF049615;AL121578;AMYH02039170;AW291697;BC104428;BC104429;BC113024;BC113025;CH471141;NG_021354;NM_012274 AAC26851;AAI04429;AAI04430;AAI13025;AAI13026;EAW59451;NP_036406;O75409 Hs.122959 2107221;2220652 HYPM__6433;UniSTS:487058 1700054O13Rik;CXorf27;HIP17 OTTHUMP00000031919;huntingtin yeast partner M;huntingtin-interacting protein M APPROVED protein-coding ENSG00000187516 HGNC:18417 VALIDATED 1605825 IAH1 isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) ENCODES a protein that exhibits hydrolase activity (inferred); hydrolase activity, acting on ester bonds (inferred); INVOLVED IN lipid catabolic process (inferred); lipid metabolic process (inferred); metabolic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 2 2 2 p25.1 9526559 9540463 + 9614670 9628604 + 9474532 9507230 + 6480464 12477932;14702039;21139048;24159190;24250222;24816145 285148 C9J5J2;C9JDY4;C9JE02;F8WF34;H7BXP8;H7C5G1;Q2TAA2 ABBA01015589;AC080162;AK092982;AK291984;AK297648;AMYH02003248;AMYH02003249;BC019061;BC039709;BC059410;BC067865;BC111025;CH471053;NM_001039613;XM_005246157;XR_426950;XR_426951;XR_426952;XR_426953;XR_426954 AAH19061;AAH59410;AAH67865;AAI11026;BAF84673;BAG60015;EAX00983;EAX00984;EAX00986;NP_001034702;Q2TAA2;XP_005246214 Hs.744980 1341460;1849264;2141861;2173042;5037552 D2S2207;D8S2279;RH77928;WI-11400;WIAF-2163 MGC102860 OTTHUMP00000214018;isoamyl acetate-hydrolyzing esterase 1 homolog protein-coding HGNC:27696 PROVISIONAL 1606826 HYOU1 hypoxia up-regulated 1 The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 11 11 11 q23.1-q23.3 116072540 116085596 - 118914896 118927951 - 119044185 119057240 - 6480464;6907045 10037731;10837345;10965054;11231630;11690552;12477932;12553534;12754519;15240565;15342556;15952740;16263699;16335952;16543725;17131193;17330988;17353931;17481612;18404158;19106412;19199708;19225868;19812200;19913121;19946888;20000738;20626887;20628086;21139048;21296878;21319273;21890473;21903422;21906983;22190034;22268729;22586326;22689054;22863883;22939629;23097496;23645669;23757447;23862649;23874603;24327659;24457600;24583282;24816145;24920810;25036637;8125298;8878445;9006956;9020069;9645760 10525 B3KXH0;B7Z602;B7Z766;E9PJ21;J3KSR2;J3KTF1;J3QL06;J3QLE9;J3QQH7;Q6IN67;Q9Y4L1 AA580314;AB009979;ABBA01039681;AK127324;AK222756;AK294905;AK297260;AK299648;AK301514;AK304264;AK307624;AK314178;AMYH02025659;AP003392;BC004560;BC017726;BC072436;BE733065;BE791468;BP236985;BP358970;CH471065;CR749610;DC364982;DQ350134;DQ372932;EF444986;HY089857;KF510357;KF511132;NM_001130991;NM_006389;U65785;XM_005271390;XM_005271392;XM_005271393;XM_005271394 AAC50947;AAH04560;AAH17726;AAH72436;ABC75106;ABD14370;ACA06002;BAD96476;BAF80348;BAG36860;BAG54482;BAH11920;BAH12532;BAH13088;BAH13502;BAH14145;CAH18405;EAW67440;EAW67441;EAW67442;EAW67443;NP_001124463;NP_006380;Q9Y4L1;XP_005271447;XP_005271449;XP_005271450;XP_005271451 Hs.277704 1668998;2124178;2219156;5123790;5491475 D11S1001;HYOU1__6621;MARC_14873-14874:1010767189:1;NIB361;RH48731 DKFZp686N08236;FLJ94899;FLJ97572;GRP-170;Grp170;HSP12A;ORP-150;ORP150 150 kDa oxygen-regulated protein;170 kDa glucose-regulated protein;OTTHUMP00000232709;OTTHUMP00000232711;OTTHUMP00000232713;glucose-regulated protein 170;hypoxia up-regulated protein 1;oxygen regulated protein (150kD) APPROVED protein-coding ENSG00000149428 HGNC:16931 03448 601746 REVIEWED 737044 IAPP islet amyloid polypeptide The protein encoded by this gene is commonly found in pancreatic islets of patients suffering diabetes mellitus type II, or harboring an insulinoma. Studies suggest that this protein, like the related beta-amyloid (Abeta) associated with Alzheimer's disease, can induce apoptotic cell-death in particular cultured cells, an effect that may be relevant to the development of type II diabetes. This protein also exhibits an bactericidal, antimicrobial activity. [provided by RefSeq, Sep 2014] 12 12 12 p12.1 26681196 26688308 + 21525802 21532914 + 21372868 21379980 + 1580863;2313356;2313357;2311446;2313359;6480464;6907045 18641056;19033417;19100955;19190104 10342886;10385705;10931181;11076863;11145957;11246872;11318791;11786016;11979402;12036966;12086946;12221327;12298020;12367525;12441106;12477932;12540610;12588049;12589759;12611974;12679865;12706318;12706321;12717671;12717720;12767835;1282806;14532296;14578294;14613923;14656003;14659752;15292167;15321714;15342243;15358791;15522881;15527771;15638806;15710403;15778964;15811365;15878744;15929864;15983227;16142909;16204373;16303136;16331989;16403520;16531504;16804082;16866369;16950544;17123962;17212787;17213278;17353506;17374526;17475933;17495860;17563070;17617411;17660321;17722920;17804609;17911343;18240029;18291688;18408164;18483616;18486611;18497871;18556473;18577758;18615201;18624122;18710262;18751967;18815541;18989932;18989933;19002432;19146426;19148619;19151199;19244249;19338997;19346479;19402658;19427320;19538245;19554505;19573128;19578796;19647738;19720065;19794060;19810772;19817482;19913121;19931436;19948124;20028124;20186753;2039456;20416077;20421596;20429571;20509034;20536124;20579740;20628086;20630475;20735358;20807286;20809197;20814419;20887731;20923655;21130765;21138812;21148563;21158384;21219896;21266296;21266924;21281583;21391619;21555785;21566116;21606325;21616080;21633185;21695120;21742788;21865171;2189768;21916515;21935471;21947943;21984830;22003494;22038516;22106265;22120172;22135135;22187437;22193043;22206987;22210153;2223885;22325282;22334700;22404928;22542527;22693597;22734583;22781911;22876830;22944668;23016872;23145779;23225004;23229548;23229921;23256729;23261986;23267797;23332070;23337872;23380070;23457571;23458258;23493863;23493869;23611340;23614446;2365085;23796517;24009497;24010666;24268144;24338965;24352606;24410108;24703313;2546670;2608057;2651160;2690069;3035556;3053705;3181427;3317417;3535798;7929615;8152488;8307253;8468047;8557106;8605675;8771910;8772735;8845235;9115263;9794116 3375 F5H0S1;F5H1F0;H0YF85;P10997 ABBA01067968;AC006559;AMYH02026166;BQ548699;CH471094;CK905016;DQ516082;J04422;M21785;M26650;M27503;NM_000415;X13859;X14902;X14903;X14904;X14905;X52818;X52819;X55634;X56030;X68830 AAA35524;AAA35983;AAA51728;AAA52281;AAI11850;ABG27010;CAA33031;CAA33032;CAA33033;CAA37002;CAA39504;CAA48724;CAB57803;CAB57804;EAW96426;EAW96427;NP_000406;P10997 Hs.46835 1663368;1743979;2170817;2217460;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;GDB:384719;IAPP_3999;SGC35306;SHGC-57392 DAP;IAP Islet amyloid polypeptide (diabetes-associated peptide, amylin);Islet amyloid polypeptide (diabetes-associated peptide; amylin);OTTHUMP00000240131;OTTHUMP00000240133;amylin;diabetes-associated peptide;insulinoma amyloid peptide APPROVED protein-coding ENSG00000121351 HGNC:5329 01005 147940 REVIEWED 1317850 IARS isoleucyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012] 9 9 9 q21 65408928 65492347 - 94972489 95056038 - 92210207 92293756 - 1580863;6480464;6907045;8554872 10669760;10913161;11714285;12477932;14702039;15164053;16055448;16196087;16210410;16344560;1651330;17353931;18029348;18457437;18541383;18781797;19380743;19615732;19738201;20379614;21081666;21139048;21145461;21319273;21832049;21890473;21906983;21963094;22053931;22190034;22268729;22505724;22623428;22797925;22863883;22939629;23000965;23125841;23349634;23443559;23862649;23956138;24147044;24639526;24816145;24984263;25027693;7721108;8052601;8078941;8188258;8449960;8812440;8816763;9278442;9466989;9556618;9878398 3376 J3KR24;P41252;Q5TCC4;Q5TCC5;Q5TCC6;Q5TCC9;Q5TCD1;Q5TCD2;Q6P0M4;Q7L4K8 AA731323;AB209234;ABBA01018583;ABBA01018584;AK057920;AK123909;AK127087;AK293014;AK301272;AK308202;AL136097;AMYH02021218;AMYH02021219;AMYH02021220;BC008318;BC065552;BX537417;BX537429;BX538109;BX647071;BX647236;BX647430;BX648567;CH471089;D28473;DA335066;NM_002161;NM_013417;NR_073446;U04953 AAA80153;AAH08318;AAH65552;ACE86708;ACE87393;BAA05835;BAD92471;BAF85703;BAG62834;CAD97659;CAD97671;CAD98022;EAW62809;EAW62810;EAW62811;EAW62812;EAW62813;NP_002152;NP_038203;P41252 Hs.445403 1662726;1735884;1751561;1772099;2109421;2172572;2187102;5024691 D9S1003E;IARS__6434;RH17403;RH69269;RH93505;SHGC-105444;SHGC-31417;SHGC-34071 FLJ20736;IARS1;ILRS;IRS;PRO0785 ILERS;OTTHUMP00000021636;isoleucine tRNA ligase 1, cytoplasmic;isoleucine--tRNA ligase;isoleucine--tRNA ligase, cytoplasmic;isoleucine-trna synthetase;isoleucyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000196305 HGNC:5330 02832 600709 REVIEWED 8655387 IARS2P1 isoleucyl-tRNA synthetase 2, mitochondrial pseudogene 1 8 8 8 q21.3 84805399 84808753 - 88610709 88613847 - 87598481 87601619 - 642461 ABBA01037375;AF121898;AMYH02018371;NG_028883 pseudo HGNC:50474 INFERRED 1606941 IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN glycine catabolic process (inferred); heme biosynthetic process (inferred); methylation (inferred); ASSOCIATED WITH Arthrogryposis multiplex congenita (inferred); Autosomal recessive inheritance (inferred); Cerebral atrophy (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH valproic acid 1 1 1 q42.13 201543670 201559968 + 228353429 228369958 + 228165728 228197905 + 8699517;7240710;6480464;8554872 14702039;15146197;16710414;19656490;20877624;21139048;21963094;22114354;22323289;23462291;24250222 200205 Q5T440 ABBA01005832;AK022796;AK023911;AK303837;AL359510;AMYH02002837;AMYH02002838;AMYH02002839;BC028052;BI820993;CA425016;CH471098;CN285775;DN831582;NM_001010867;XM_006711753 BAG64781;EAW69862;NP_001010867;Q5T440;XP_006711816 Hs.237017;Hs.636881 1697734;1701624;5020948;5022578 D1S1423;G35510;RH102389;RH104454 C1orf69;FLJ12734;FLJ13849;MMDS3 OTTHUMP00000037760;iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa;iron-sulfur cluster assembly factor homolog;putative transferase C1orf69, mitochondrial;putative transferase CAF17, mitochondrial APPROVED protein-coding ENSG00000181873 HGNC:27302 17318 615316;615330 VALIDATED 1604336 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ENCODES a protein that exhibits aminoacyl-tRNA editing activity (inferred); ATP binding (inferred); isoleucine-tRNA ligase activity (inferred); INVOLVED IN gene expression (inferred); isoleucyl-tRNA aminoacylation (inferred); regulation of translational fidelity (inferred); PARTICIPATES IN valine, leucine and isoleucine biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; mitochondrion; INTERACTS WITH 4-hydroxyphenyl retinamide; cobalt dichloride; methyl methanesulfonate 1 1 1 q41 193486662 193540592 + 220267455 220321383 + 220094113 220148041 + 6480464;6907045;8554872 12477932;14702039;15161933;15489334;16263121;16710414;17081983;18029348;19209188;20877624;21832049;21890473;21906983;21963094;22586326;22939629;24654937;24816145;25027693;25036637;9466989 55699 F6SBX2;Q9NSE4 ABBA01048081;ABBA01048082;AC103590;AK001188;AK001726;AK022665;AK291432;AMYH02002730;AY267462;AY952883;BC010218;BC040376;BC047880;BC137438;BI459732;BM149097;CH471100;D28500;NM_018060 AAH10218;AAH40376;AAH47880;AAI37439;AAP94033;BAA91544;BAA95147;BAB14164;BAF84121;EAW93305;NP_060530;Q9NSE4 Hs.262823 1760173;2117510;2117512;2174661;5115059 RH35983;RH69283;SHGC-132443;SHGC-23988;SHGC-31919 FLJ10326 ILERS;OTTHUMP00000035401;isoleucine tRNA ligase 2, mitochondrial;isoleucine--tRNA ligase;isoleucine--tRNA ligase, mitochondrial;isoleucine-tRNA synthetase 2, mitochondrial;isoleucyl-tRNA synthetase, mitochondrial;mitochondrial isoleucine tRNA synthetase protein-coding ENSG00000067704 HGNC:29685 13334 612801 VALIDATED 1345507 IBD2 inflammatory bowel disease 2 ASSOCIATED WITH Inflammatory Bowel Disease 2 (inferred) 7240710 8841195;9634527 3378 1331602;1335816;1336551;1337215;1338710;1340029;1340523;1342304;1357235;1657833;7183425;7186843 D12S2078;D12S303;D12S326;D12S345;D12S368;D12S43;D12S83;D12S85;D12S92;D12S95 HGNC:5332 601458 1348870 IBD3 inflammatory bowel disease 3 ASSOCIATED WITH Inflammatory Bowel Disease 3 (inferred) 7240710 10577918 30829 1337397;1337699;1338417;1338684;7188001;7191085 D6S1019;D6S1281;D6S276;D6S289;D6S461 HGNC:13863 604519 1345387 IBD4 inflammatory bowel disease 4 ASSOCIATED WITH Inflammatory Bowel Disease 4 (inferred) 7240710 10747815 50608 7185507;7185537 D14S261;D14S283 HGNC:5333 606675 1346937 IBD5 inflammatory bowel disease 5 ASSOCIATED WITH Inflammatory Bowel Disease 5 (inferred) 7240710 10777714 50941 1298302;1335487;1340849 D5S1480;D5S647;D5S816 HGNC:5334 606348 1350571 IBD6 inflammatory bowel disease 6 ASSOCIATED WITH Inflammatory Bowel Disease 6 (inferred) 7240710 10777714 50942 1298192 D19S1034 HGNC:5335 606674 1352590 IBD7 inflammatory bowel disease 7 ASSOCIATED WITH Inflammatory Bowel Disease 7 (inferred) 7240710 10814724;9636179 57042 1334695;1336052;1336787;1341324;1341785;7185197;7186331 D1S1597;D1S199;D1S236;D1S2670;D1S2697;D1S507 HGNC:14242 605225 1601780 IBA57-AS1 IBA57 antisense RNA 1 (head to head) 1 1 q42.13 228351787 228353213 - 228164086 228165512 - 14702039 574432 B1ANH7 ABBA01005832;AI989571;AL359510;AMYH02002837;BX114038;CH471098;NR_103539;NR_103540 B1ANH7;EAW69861 Hs.568467 C1orf148;FLJ32878 APPROVED ncrna ENSG00000203684 HGNC:32062 VALIDATED 1348016 IBD8 inflammatory bowel disease 8 ASSOCIATED WITH Inflammatory Bowel Disease 8 (inferred) 7240710 170595 HGNC:20235 606668 1351354 IBD9 inflammatory bowel disease 9 ASSOCIATED WITH Inflammatory Bowel Disease 9 (inferred) 7240710 12354785 317669 1299975 D3S1297 HGNC:20236 608448 1349696 IBGC1 idiopathic basal ganglia calcification 1 ASSOCIATED WITH Idiopathic basal ganglia calcification 1 (inferred) 7240710 10441584 23706 1337077;1340987;1341898 D14S1014;D14S306;D14S75 HGNC:5336 213600 1345945 IBM3 inclusion body myopathy 3, autosomal dominant 10205275;9708547 3380 HGNC:5338 1323289 IBTK inhibitor of Bruton agammaglobulinemia tyrosine kinase Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] 6 6 6 q14.1 83302847 83380340 - 82879956 82957448 - 82170238 82247747 - 6480464;8554872 10718198;11577348;12477932;14574404;15489334;17081983;17353931;18029348;18596081;19460752;19782003;20721470;21145461;21482705;21906983;21988832;22321011;23291589;23463506 25998 D6R9F4;E7EPI0;E9PDR5;H0Y9N7;Q9P2D0 AB037838;ABBA01040443;AF235049;AJ420588;AJ420593;AK123460;AK126777;AL050018;AL050333;AMYH02013995;AMYH02013996;BC012551;BC027483;BC027490;BC035860;BC038244;BC042171;BC092410;BC112929;BC113696;BC113698;BC143736;BC143745;BC143748;BM670666;CB265364;CH471051;DQ005633;DQ005634;DQ005635;NM_001300906;NM_015525;XM_006715453;XM_006715454;XM_006715455 AAG27170;AAH27490;AAH38244;AAH42171;AAI13697;AAI13699;AAI43737;AAI43746;AAY55906;AAY55907;AAY55908;BAA92655;BAG54372;CAB43239;EAW48685;EAW48686;EAW48687;EAW48688;NP_001287835;NP_056340;Q9P2D0;XP_006715516;XP_006715517;XP_006715518 Hs.306425 1646692;1664411;1767934;2139045;2168285;2183162;2219822;5022578 A002S42;D1S1423;D6S1109E;D6S1188E;D6S1780;D6S1882;IBTK__6437;RH69271 BTBD26;BTKI;KIAA1417;MGC142256;MGC142258;RP1-93K22.1 BTK-binding protein;Bruton agammaglobulinemia tyrosine kinase inhibitor;OTTHUMP00000016784;OTTHUMP00000220770;OTTHUMP00000220771;inhibitor of Bruton tyrosine kinase;inhibitor of Bruton's tyrosine kinase;inhibitor of Bruton's tyrosine kinase-alpha;inhibitor of Bruton's tyrosine kinase-beta;inhibitor of Bruton's tyrosine kinase-gamma APPROVED protein-coding ENSG00000005700 HGNC:17853 12105 606457 REVIEWED 735575 IBSP integrin-binding sialoprotein The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 86008963 86021864 + 88720702 88733601 + 87799550 87812449 + 1580863;6480464;6907045 10640428;11076863;11459848;11968014;11979972;12477932;12750290;14524533;15795688;16000302;16210410;16995818;17050866;17213971;17956871;18302613;19079262;19127545;19376608;19386107;19453261;19460752;19492334;20164292;20654748;20967421;21533022;22349547;22865667;23064961;23119009;23314561;23485603;23667544;23726130;2404984;24071501;2461939;3597437;8061918;8401509;8406493 3381 P21815 AA452255;ABBA01063538;ABBA01063539;AC093768;AI751848;AMYH02009682;BQ573754;CH471057;CS025624;DV462680;J05213;L09554;L09558;L24756;L24759;NM_004967 AAA60549;AAC37560;AAC95490;AAI11921;CAI61689;EAX05998;EAX05999;EAX06000;NP_004958;P21815 Hs.518726 1648559;1673662;1677002;1704460;2146619;2219820 IBSP__6436;RH71344;RH94127;SHGC-56508;SHGC-82974;STS-J05213 BNSP;BSP;BSP II;BSP-II;SP-II OTTHUMP00000161175;bone sialoprotein 2;bone sialoprotein II;cell-binding sialoprotein;integrin binding sialoprotein;integrin-binding sialoprotein (bone sialoprotein, bone sialoprotein II) APPROVED protein-coding ENSG00000029559 HGNC:5341 00951 147563 REVIEWED 2816631 IBTKP1 IBTK pseudogene 1 18 18 18 q12.3 38428074 38428757 + 41619428 41620111 + 44039463 44040146 + 100127883 ABBA01022346;AC083760;AMYH02034627;NG_022990 pseudo HGNC:31672 INFERRED 733652 ICA1 islet cell autoantigen 1, 69kDa This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 7 7 7 p22 8120520 8269877 - 8152814 8302242 - 8113184 8262612 - 1580863;2311486;2311487;633043;2311488;6480464;6907045;8554872 11751995;14679103;7918678;8647206 10433084;11076863;12383988;12409289;12477932;12682071;15303579;15489336;16344560;16381901;17353931;18029348;18187231;20379614;20526340;20962850;21988832;22447927;22654674;23251661;23333304;23836780;23934736;24358315;7497880;7758883;7822811;7840858;8162706;8326004;8603775;8679127;8777998;8781774;8889548;8975715;9028728;9693970 3382 B9ZVM7;C9IZC7;C9J3Y4;C9J8Y3;E7ENI6;E9PDL4;F8WET5;Q05084;Q6LCR0;Q6LCT9 AA581444;ABBA01056524;ABBA01056525;ABBA01056526;ABBA01056527;ABBA01056528;ABBA01056529;AC006042;AC007009;AI346099;AK292106;AMYH02015202;AMYH02015203;BC005922;BC008640;BM716117;BU728575;CH236948;CH471073;DA076379;DA154134;DB010744;DB040266;EU416199;GN344071;GN344073;L01100;L21181;NM_001136020;NM_001276478;NM_004968;NM_022307;U26591;U26592;U37183;U38260;U71251;U71254;U71264;XM_005249735;XM_005249736;XM_006715717;XM_006715718;XM_006715719;XM_006715720;XM_006715721 AAA02564;AAA64927;AAB19033;AAB19034;AAB94737;AAB94738;AAC50935;AAC50936;AAD50515;AAH08640;ABM82431;ABW03414;ACB47390;BAF84795;CAL37894;CAY55971;CAY55972;EAW93610;EAW93611;EAW93612;EAW93613;EAW93614;EAW93615;EAW93616;EAW93617;EAW93618;EAW93619;EAW93620;NP_001129492;NP_001263407;NP_004959;NP_071682;Q05084;XP_005249792;XP_005249793;XP_006715780;XP_006715781;XP_006715782;XP_006715783;XP_006715784 Hs.487561 1665511;2106505;2138301;2140805;2174450 D7S2321;GDB:1318390;GDB:3755069;ICA1__6438;STS-H15167 ICA69;ICAp69;p69 69 kDa islet cell autoantigen;OTTHUMP00000200933;OTTHUMP00000200934;OTTHUMP00000200941;OTTHUMP00000200993;diabetes mellitus type I autoantigen;islet cell autoantigen 1;islet cell autoantigen 1 isoform;islet cell autoantigen 1, 69 kda;islet cell autoantigen p69 APPROVED protein-coding ENSG00000003147 HGNC:5343 00971 147625 REVIEWED 1346474 ICA1L islet cell autoantigen 1,69kDa-like ENCODES a protein that exhibits protein domain specific binding (inferred); INTERACTS WITH hydrogen peroxide; lead(0); lead(2+) 2 2 2 q33.2 197390623 197489058 - 203637873 203736708 - 202773150 202871985 - 6480464 11586298;12477932;14702039;15489334;15815621;16344560;20379614 130026 C9J0T2;C9J101;C9J1M7;C9J5Z0;C9J9Z8;C9JAQ4;C9JDK6;C9JDM8;C9JEN4;C9JEP0;C9JP49;C9JRB6;F8WBK1;F8WBQ1;Q8NDH6;Q96Q33 AB053316;AB053317;ABBA01062589;ABBA01062590;ABBA01062591;AC010900;AC098831;AC131950;AK055978;AK092310;AK124756;AL833904;AMYH02005579;AMYH02005580;AMYH02005581;AMYH02005582;BC000993;BC063876;BC093902;BC112235;CH471063;DB097704;DB496884;NM_001288622;NM_001288623;NM_001288624;NM_138468 AAH00993;AAH63876;AAH93902;AAI12236;AAY15007;AAY24091;AAY24286;BAB69024;BAB69025;BAB71062;BAG52528;CAD38760;EAW70313;EAW70314;EAW70315;EAW70316;NP_001275551;NP_001275552;NP_001275553;NP_612477;Q8NDH6 Hs.516629 1340465;1759667;2131862;2135400;2169860;5014051;5015619;5015961;5016478;5022578;5022651;5024039;5037552 D11S2921;D11S3114;D15S1477;D16S325;D1S1423;D2S2289;D8S2278;D8S2279;GDB:434012;RH48349;SHGC-150744;SHGC-30128;STS-AA019054 ALS2CR14;ALS2CR15;DKFZp434E1919;MGC138440 Ica69-related protein;OTTHUMP00000163755;OTTHUMP00000206072;OTTHUMP00000206073;OTTHUMP00000206264;OTTHUMP00000208098;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 14 protein;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 15 protein;islet cell autoantigen 1-like protein protein-coding ENSG00000163596 HGNC:14442 12446;12447 VALIDATED 1351795 ICAM2 intercellular adhesion molecule 2 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q23.3 56468024 56486043 - 62079955 62097994 - 64002595 64020634 - 1580863;6480464 10050664;10077629;10352278;11017109;11375520;11857637;11869363;12097408;12193230;12477932;1448173;14970226;15489334;15545280;15548573;15572059;16335952;1676048;16857989;16987074;17059578;17192395;17609265;1769660;18155766;18768213;18842965;18978946;19175829;19423540;19524015;19946888;20237496;20406964;20438785;20955708;22190034;22645275;23591197;23714211;24457076;24474251;2497351;7526720;7553659;7905020;7916296;8125298;8858161;8870715;8889548;9153399;9378774;9472040;9473377;9638475;9705328;9726832;9759625;9786897 3384 J3KSR9;J3QKR4;J3QQR8;J3QQX6;J3QRQ1;J3QRT5;P13598;Q6FHE2 AB209878;ABBA01035312;ABBA01035313;AC005803;AF212826;AF340052;AF340053;AK223219;AK293110;AK295382;AMYH02033784;BC003097;BM695682;BX363874;CA841927;CH471109;CR541812;CR541834;GN336652;JC231898;M32331;M32334;NM_000873;NM_001099786;NM_001099787;NM_001099788;NM_001099789;X15606 AAA36035;AAF34580;AAH03097;AAQ14909;AAQ14910;ABM82769;ABM85957;BAD93115;BAD96939;BAF85799;BAH12052;CAA33630;CAG46611;CAG46633;CAY39145;CDM22291;EAW94216;EAW94217;EAW94218;EAW94219;EAW94220;NP_000864;NP_001093256;NP_001093257;NP_001093258;NP_001093259;P13598 Hs.431460 1664046;1768523;2119599;2149998 A004O13;D17S1976;D17S2034;WI-15726 CD102;ICAM-2 APPROVED protein-coding ENSG00000108622 HGNC:5345 00888 146630 REVIEWED 69659 ICAM1 intercellular adhesion molecule 1 This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008] 19 19 19 p13.3-p13.2 10276917 10292687 + 10380707 10397291 + 10270841 10286615 + 1358664;1625758;1625756;1625753;1580863;2313467;2313468;2313469;2313472;2313474;2313475;2312765;2313476;2312766;2313470;2313471;2306987;2306988;2313473;4145465;4145348;4145368;4145375;4145405;4145427;4145485;4145501;4145436;4145493;4145407;4145429;4140425;4145336;4144131;4145520;4145507;4145511;4145621;2325165;4145364;4145388;4145510;4145328;4145390;4145519;4145521;4145331;4145532;4145329;2325163;4145365;4145518;4145522;4145335;4145516;4145409;4145422;4145440;4145459;4145464;4145490;2308951;4145377;4145414;4145446;4145497;4145502;4145509;4145463;4145444;4145449;4145536;4145523;5685684;6480464;6484113;6907045;7240710;7207796;8547576;8547584;8547590;8547689;8547591;8547585;8547712;8547716;8158115;8158119;8547696;8158123;8158116;8547587;8547722;7175102;8547592;8547705;8547706;8547707;8547575;8158114;8158117;8158122;8158124;8547577;8547579;8547580;8547687;8547703;8547728;8158120;8158118;8547692;8547698;8547734;8547732;8547686;8547704;8547702;8547713;8547727;8547729;8547724;8547581;8547589;8547593;8547708;8547733;8547586;8547701;8547719;8158121;8547688;8547694;8547718;7240537;8547739;8554872 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3383 B4DQW5;E7ESS4;K7EKL8;P05362 ABBA01029939;ABBA01029940;ABBA01197211;AC011511;AF340038;AF340039;AK130659;AK298054;AK298983;AK301412;AK312636;AMYH02035489;AY225514;BC015969;BG149901;BP346334;BT006854;CH471106;J03132;M24283;M55038;M55091;M65001;NG_012083;NM_000201;S82847;U86814;X06990;X57151;X59286 AAA52708;AAA52709;AAA52710;AAA60393;AAB46863;AAB51145;AAH15969;AAO30128;AAP35500;AAQ14901;AAQ14902;ABM84711;ABM92232;BAG35520;BAG60348;BAG61077;BAG62944;CAA30051;CAA40441;CAA41977;EAW84086;EAW84087;NP_000192;P05362 Hs.643447 1700016;1791436;1791864;1795082;1795122;2123661;2157173;5022651 D11S2921;D19S1031;D19S1169;PMC110371P1;PMC128235P2;PMC97258P2;PMC98604P1;RH103620 BB2;CD54;ICAM-1;P3.58 cell surface glycoprotein P3.58;human rhinovirus receptor;intercellular adhesion molecule 1 (CD54), human rhinovirus receptor;major group rhinovirus receptor APPROVED protein-coding ENSG00000090339 HGNC:5344 00996 147840;611162 REVIEWED 1343048 ICAM3 intercellular adhesion molecule 3 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. [provided by RefSeq, Jul 2008] 19 19 19 p13.3-p13.2 10339843 10345750 - 10444452 10450345 - 10333776 10339669 - 1580863;6480464 10380912;10626904;10721994;11017109;11179968;11257134;11353828;11784723;11799126;11857637;12021323;12082081;12477932;12571844;12600815;12743567;1448173;1448174;14704632;14718574;14726630;14970226;15163761;15572059;15728350;15880373;15958383;16169070;16335952;17145745;17452477;17570115;17591777;17913807;18261116;18354203;19225705;19423540;19801714;19898481;19913121;19956847;20086017;20331378;20406964;20438785;20628086;21102463;21239057;21381019;21712539;21832049;22117198;22205703;22396536;22479382;23144795;23463506;23775590;24177012;24474251;7482494;7523142;7553659;7822326;7836774;7851905;7876557;8125298;8325327;8459213;8605703;8777714;8889548;9268366;9298994;9473377;9539703;9638475;9661300;9705328 3385 K7ELH4;K7EMH0;K7EP52;K7EQC7;K7ERF0;K7ERJ4;K7ERN2;P32942 ABBA01029936;AC011511;AC114271;AF340060;AF340061;AK226023;AK309643;AK312826;AMYH02035490;AX746321;BC034409;BC040123;BC046121;BC058903;BM676382;CH471106;DC425414;DQ217937;NM_002162;S50015;X69711;X69819 AAB24331;AAH58903;AAQ14917;AAQ14918;ABB01007;BAG35683;CAA49369;CAA49473;CAD97564;EAW84092;EAW84096;NP_002153;P32942 Hs.654563 1697360;1744159;2120642 GDB:433273;RH102178;RH16014 CD50;CDW50;ICAM-3;ICAM-R intercellular adhesion molecule-3 APPROVED protein-coding ENSG00000076662 HGNC:5346 00889 146631 REVIEWED 1319054 ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 10293046 10294594 + 10397643 10399260 + 10286967 10288584 + 1580863;6480464;8554872 10846180;11435317;11857637;12477717;12477932;12694184;14551135;15308566;15355350;15489334;15847654;16564726;16985175;17609430;18549656;18604267;19423540;19729601;19773279;19913121;20015873;20167578;20331378;20406964;20416077;20438785;20568250;20622166;20628086;21533024;22082156;22147898;22268729;23417980;6431896;7632968;8202485;8563755;8566017;8639917;9638475 3386 Q14773;U5U6P8 ABBA01029939;AC011511;AMYH02035489;BC000046;BC029364;BT009816;BX114065;CH471106;DQ011692;KF712272;KF725834;KF725835;KF725837;L27670;L27671;NG_007728;NG_012083;NM_001039132;NM_001544;NM_022377;S78852;S78853;X93093 AAA59537;AAA59538;AAB35046;AAH00046;AAH29364;AAP88818;AAY16986;ABM83576;ABM86815;AGZ16506;AGZ17094;AGZ17095;AGZ17097;CAA63646;EAW84088;EAW84089;EAW84090;NP_001034221;NP_001535;NP_071772;Q14773 Hs.706750 1678679;1700016;1768405;1791864;1796040;2123661;2157173;2170918;2186679;5022651 D11S2921;D19S1031;D19S1169;ICAM4_1000;PMC128235P2;RH103620;RH39081;RH78910;SGC35328;STS-L27670 CD242;ICAM-4;LW CD242 antigen;LW blood group protein;Landsteiner-Wiener blood group antigen a;Landsteiner-Wiener blood group glycoprotein;intercellular adhesion molecule 4;intercellular adhesion molecule 4 (LW blood group);intercellular adhesion molecule 4 isoform 3 anitgen LWa;intercellular adhesion molecule 4, landsteiner-wiener blood group APPROVED protein-coding ENSG00000105371 HGNC:5347 00198 111250;614088 REVIEWED 1353321 ICCA infantile convulsions and paroxysmal choreoathetosis ASSOCIATED WITH Episodic Kinesigenic Dyskinesia 1 (inferred); Infantile convulsions and paroxysmal choreoathetosis, familial (inferred); SEIZURES, BENIGN FAMILIAL INFANTILE, 2 (inferred) 7240710 9382100 3387 HGNC:5349 128200;602066;605751 1312830 ICAM5 intercellular adhesion molecule 5, telencephalin The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 10296051 10302851 + 10400655 10407454 + 10289979 10296778 + 1580863;6480464;8554872 10402269;10592287;10741396;10893271;11719200;12477932;12665801;15144186;16434609;16733712;16820411;17293864;18223167;19124506;19423540;19773279;19913121;20237496;20331378;20406964;20438785;20568250;20628086;20644561;22268729;22781129;23079714;7724062;8995416;9556028;9638475;9717930;9828136 7087 K7EIL3;Q8N6I2;Q9UMF0 ABBA01029939;AC011511;AF082802;AI199660;AI568610;AMYH02035489;AX746344;BC026338;BC030132;CH471106;NM_003259;U72671 AAC50959;AAC97931;AAH26338;AAH30132;CAD97565;EAW84091;NP_003250;Q9UMF0 Hs.465862 1658655;2116418;2159733;2186679 RH35820;RH78910;STS-H18323;STS-U72671 ICAM-5;TLCN;TLN intercellular adhesion molecule 5;telencephalin APPROVED protein-coding ENSG00000105376 HGNC:5348 03509 601852 REVIEWED 2311267 ICE1 interactor of little elongator complex ELL subunit 1 ENCODES a protein that exhibits protein homodimerization activity (inferred); INVOLVED IN positive regulation of intracellular protein transport; positive regulation of protein complex assembly; positive regulation of transcription from RNA polymerase III promoter; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Cajal body; histone locus body; transcription elongation factor complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; coumestrol 5 5 5 p15.32 5448998 5516538 + 5422786 5490347 + 5422673 5490234 + 6480464;8554872 10231032;12477932;14702039;16344560;19615732;21729782;21900206;23602568;23648065;23932780;24816145 23379 Q9Y2F5 AB023164;ABBA01016136;AC010253;AC012607;AC091978;AK024400;AK025279;AK095073;AK096615;AK130025;AL137260;AL832204;AMYH02010798;BC004902;BC041002;BX538020;CR749441;DA217623;NM_015325 AAH04902;BAA76791;CAB70661;CAD97966;CAH18279;NP_056140;Q9Y2F5 Hs.449296 1739071;2114510 D5S1786;RH77699 DKFZp781J2344;KIAA0947 OTTHUMP00000220508;hypothetical protein LOC23379;uncharacterized protein KIAA0947 APPROVED protein-coding ENSG00000164151 HGNC:29154 VALIDATED 7247182 ICE2P1 interactor of little elongator complex ELL subunit 2 pseudogene 1 4 4 4 q35.2 186617386 186619567 - 189308634 189310816 - 188387480 188389662 - 644491 ABBA01070593;AC093789;AMYH02010713;NG_022044 NARG2P1 APPROVED pseudo HGNC:48856 INFERRED 1351476 ICE2 interactor of little elongator complex ELL subunit 2 INVOLVED IN positive regulation of transcription from RNA polymerase III promoter; snRNA transcription from RNA polymerase II promoter; snRNA transcription from RNA polymerase III promoter; FOUND IN Cajal body; histone locus body; transcription elongation factor complex; INTERACTS WITH arsane; arsenic atom; cocaine 15 15 15 q22.2 37600442 37660016 - 60711808 60771359 - 60419609 60479160 - 737633;6480464 12477932 11297529;12975309;14702039;15146197;15606750;19322201;21729782;21890473;23602568;23932780;8889548 79664 H0YK14;H0YK96;H0YK97;H0YL35;H0YMX6;H0YN09;H0YNU9;Q659A1 ABBA01038947;ABBA01038948;ABBA01038949;AC087385;AF502591;AK021958;AK055752;AK095389;AK127892;AL832046;AL833122;AL833318;AMYH02030555;AMYH02030556;AY358546;BC013684;BC020918;BC071685;BC107427;BC140894;BC151844;BU738348;BX647873;CH471082;CN342776;CR749852;NM_001018089;NM_001276385;NM_024611;XM_005254661;XM_005254662;XM_005254663 AAH13684;AAH20918;AAH71685;AAI07428;AAI40895;AAQ07460;AAQ88910;BAB13948;BAG51567;BAG54594;CAH18700;CAH56197;CAH56202;CAH56220;EAW77588;EAW77589;EAW77590;NP_001018099;NP_001263314;NP_078887;Q659A1;XP_005254718;XP_005254719;XP_005254720 Hs.200943 1725081;1738953;1767248;2129687;5020948;5022200;5022578;5022588;5022651;5024756;5037552 D11S2921;D15S855;D1S1423;D5S1597E;D8S2279;G35510;L18426;RH118836;RH77798;RH80030;SGC35006 BRCC1;NARG2 NMDA receptor regulated 2;NMDA receptor-regulated gene 2;NMDA receptor-regulated protein 2;OTTHUMP00000163651;breast cancer cell 1 APPROVED protein-coding ENSG00000128915 HGNC:29885 17628 610835 VALIDATED 7246968 ICE2P2 interactor of little elongator complex ELL subunit 2 pseudogene 2 3 3 3 p11.1 89751609 89754136 + 88997548 89000075 + 88948398 88950925 + 728432 ABBA01004640;AC106715;AC119724;AMYH02007226;NG_022254 NARG2P2 APPROVED pseudo HGNC:48857 INFERRED 1603405 ICMT isoprenylcysteine carboxyl methyltransferase This gene encodes the third of three enzymes that posttranslationally modify isoprenylated C-terminal cysteine residues in certain proteins and target those proteins to the cell membrane. This enzyme localizes to the endoplasmic reticulum. Alternative splicing may result in other transcript variants, but the biological validity of those transcripts has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p36.21 5395764 5410546 - 6281253 6296044 - 6221193 6235984 - 6480464 10412982;10441503;10649571;11906819;12006387;12477932;12631708;12750467;14702039;14966563;15146197;15489334;17347446;19158273;19161160;19322201;19651782;19841875;20798596;21890473;24216479;24250222;9614111 23463 B3KS61;K7EQW0;O60725;Q7Z750 ABBA01035439;AF064084;AF173157;AK092890;AL031847;AL117548;AL564343;AMYH02000169;BC017037;BC028168;BU616418;CH471130;CN343480;CR541671;CR541711;NM_012405;XM_005263437;XM_006710518 AAC16554;AAF89831;AAH28168;BAG52623;CAG46472;CAG46512;EAW71522;EAW71523;NP_036537;O60725;XP_005263494;XP_006710581 Hs.515688 1337251;1775028;1779240;2109423;2132325;2183039;5015619;5015861;5015961;5016596;5037552;7185938 D10S16;D11S3114;D15S1477;D1S2870;D8S2279;GDB:631802;ICMT_9351;RH64691;SHGC-152961;SHGC-74066;SHGC-74149 HSTE14;MGC39955;MST098;MSTP098;PCCMT;PCMT;PPMT OTTHUMP00000001381;prenylated protein carboxyl methyltransferase;prenylcysteine carboxyl methyltransferase;protein-S isoprenylcysteine O-methyltransferase;protein-S-isoprenylcysteine O-methyltransferase APPROVED protein-coding ENSG00000116237 HGNC:5350 09321 605851 REVIEWED 1345110 ICK intestinal cell (MAK-like) kinase Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008] 6 6 6 p12.1 54527872 54588397 - 52866097 52926676 - 53001300 53061802 - 6480464;7240710;8554872 10231032;10699974;12103360;12477932;14574404;15231748;15489334;15988018;16344560;16954377;18029348;19185282;19240061;19696144;20459822;21110914;21832049;22356909;22761715;22939624;23383273;23602568;23743448;8626561 22858 B3KQG4;Q9UPZ9 AB023153;ABBA01050546;AF152469;AF225919;AI699136;AJ420557;AK074892;AL031178;AL162581;AMYH02013740;BC035807;BC136420;BC136421;BC152464;BX647493;CH471081;DA456873;KF458170;KF458175;NG_012159;NM_014920;NM_016513 AAF37278;AAG43364;AAH35807;AAI36421;AAI36422;AAI52465;BAA76780;BAG52026;EAX04400;EAX04401;EAX04402;EAX04403;EAX04404;NP_055735;NP_057597;Q9UPZ9 Hs.417022 1654680;1655828;1655830;1668919;1691062;1694166;1849854;1854124;2158251;2219824;5015619;5019645 A005Z26;A006C43;AL035186;D11S3114;D6S1221E;G20625;G32322;ICK__6439;RH45102;RH68677;RH91718;SGC35018 ECO;KIAA0936;LCK2;MGC46090;MRK;hICK MAK-related kinase;OTTHUMP00000016630;laryngeal cancer kinase 2;serine/threonine protein kinase;serine/threonine-protein kinase ICK APPROVED protein-coding ENSG00000112144 HGNC:21219 09996 612325;612651 REVIEWED 1344621 ICOS inducible T-cell co-stimulator The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008] 2 2 2 q33 198556278 198581105 + 204801454 204826302 + 203936731 203961579 + 1624274;1624268;1624276;1624269;1624275;1580863;6480464;6907045;7240710;8699517;8554872 12421962;12829180;14731127;16601981;17060381 10617205;10657606;10779774;10964520;11006126;11023515;11104797;11169414;11735222;11771526;11904679;11956294;12195015;12207353;12456021;12477932;12538664;12577056;12753665;12784384;12864987;12919091;14550257;14610488;14988837;15100277;15265908;15339883;15489334;15507387;15629449;15657618;15699127;15941568;15953005;16005527;16081771;16112024;16237465;16512757;16563187;16638702;16670305;16790364;16996590;17077177;17197413;17207965;17242332;17323353;17414714;17481737;18051214;18172933;18174230;18292519;18337305;18396212;18641334;18973208;19020530;19095735;19175887;19194830;19202444;19222422;19247692;19265111;19332044;19333938;19376178;19376499;19380800;19547759;19672595;19824886;19913589;19931508;19959217;20019769;20113255;20190752;20207847;20237496;20301476;20331378;20388394;20412057;20435510;20453000;20596022;20817864;20980695;21084022;21160481;21288140;21356099;21479882;21499231;21526489;21669243;21677403;21765024;21917182;21926547;21988832;22426168;22491736;22577174;22579879;23024058;23053221;23138463;23251661;23275603;23426717;23729441;23923047;24057239;24083425;9930702 29851 Q53QY6;Q9Y6W8 AB023135;ABBA01062620;ABBA01062621;AC009965;AC103880;AF411058;AF411059;AF488347;AJ277832;AJ535718;AK314985;AMYH02005604;BC028006;BC028210;CB528580;CH471063;CS008892;CS008894;EF064727;GN093455;HH957989;HI574348;NG_011586;NM_012092;XM_005246482 AAH28006;AAH28210;AAL40933;AAL40934;AAM00909;AAX93073;ABK41910;ADQ32686;BAA82129;BAG37484;CAC06612;CAD59742;CAI53650;CAI53651;CAX87085;CBX47663;CBX51258;EAW70355;EAW70356;EAW70357;NP_036224;Q9Y6W8;XP_005246539 Hs.56247 1700682;1728815;1728843 G54506;G54507;RH103964 CD278;CVID1;MGC39850 AILIM;OTTHUMP00000163785;OTTHUMP00000208080;activation-inducible lymphocyte immunomediatory molecule;inducible T-cell costimulator;inducible costimulator APPROVED protein-coding ENSG00000163600 HGNC:5351 09196 604558;607594 REVIEWED 1353855 ICR1 ichthyosis congenita I, erythromatous lamellar ichthyosis, ichthyosiform erythroderma 3388 HGNC:5352 1345761 ICR2B ichthyosis congenita II, lamellar ichthyosis B ASSOCIATED WITH Harlequin type ichthyosis (inferred); Lamellar ichthyosis, type 2 (inferred) 7240710 3389 HGNC:5353 242500;601277 1344536 ICR3 ichthyosis congenita III, vulgaris-like recessive ichthyosis 3390 HGNC:5354 1353770 ICR4 ichthyosis congenita IV, ichthyosis-prematurity syndrome 3391 HGNC:5355 1354040 ICOSLG inducible T-cell co-stimulator ligand ENCODES a protein that exhibits receptor binding (inferred); INVOLVED IN B cell activation (inferred); positive regulation of activated T cell proliferation (inferred); T cell costimulation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 21 21 21 q22.3 30751996 30766092 - 45642874 45660881 - 44222991 44241004 - 6480464 10657606;10779774;11007762;11023515;11390480;11429535;11956294;11983910;12145647;12456022;12477932;12707012;12800259;12960306;14603470;14702039;15047568;15131796;15489334;16115907;16221208;16335952;16951355;17207965;17242332;18294651;18587394;19202444;19347721;19395451;19726311;19737469;19760754;19913121;20176734;20190752;20217071;20628086;20677014;21072187;21098714;21102463;21297633;21530327;22577174;22706735;23024058;23026134;23128233;23196741;23688438;24729612;24837102;9734811 23308 A0N0L8;B7Z1W8;K4DIA0;O75144 AA781960;AB014553;AF199028;AF216749;AF289028;AI659611;AK090492;AK290192;AK294031;AK311496;AK314369;AK316143;AK316176;AL355690;AMYH02037908;AP001058;AP001059;AX100595;BC064637;BQ005303;CH471079;DC365972;EF064726;GN093450;NM_001283050;NM_001283051;NM_001283052;NM_015259;XM_005261098 AAF34739;AAG01176;AAH64637;AAK16241;ABK41909;ADQ32610;BAA31628;BAF82881;BAG36999;BAG52170;BAH11654;BAH14514;BAH14547;CAC36465;CAX87084;EAX09446;EAX09447;EAX09448;NP_001269979;NP_001269980;NP_001269981;NP_056074;O75144;XP_005261155 Hs.14155 2181953;2182838;2183705 RH12408;SHGC-52125;SHGC-87685 B7-H2;B7H2;B7RP-1;B7RP1;CD275;GL50;ICOS-L;KIAA0653 B7 homolog 2;B7 homologue 2;B7-like protein Gl50;B7-related protein 1;ICOS ligand;ICOSL;LICOS;OTTHUMP00000109524;OTTHUMP00000109525;OTTHUMP00000109526;OTTHUMP00000109527;transmembrane protein B7-H2 ICOS ligand protein-coding ENSG00000160223 HGNC:17087 05757 605717 VALIDATED 1349639 ICR5 ichthyosis congenita V, Sjogren-Larsson-like 3392 HGNC:5356 1345035 ICS1 immotile cilia syndrome 1 1601418 3393 HGNC:5357 1317429 ICT1 immature colon carcinoma transcript 1 The adult colon epithelium contains 3 differentiated cell types that arise from a multipotent stem cell. Deviation from the normal maturation pathway by neoplastic transformation is thought to initiate in stem cells or their early descendants. One potential marker is ICT1 whose mRNA and protein were more highly expressed in undifferentiated than in differentiated cells. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 69602026 69610605 + 73008760 73017356 + 75012685 75021261 + 1580863;6480464 12477932;15489334;20186120;20598281;20877624;21832049;21890473;22623531;22939629;23402259;23892058;24778252;24816145;7545548;8125298;8575443 3396 J3KS15;J3QRF8;Q14197 ABBA01028819;ABBA01028820;AC087651;AK222553;AK314138;AMYH02033982;BC015335;BT007111;CH471099;NM_001545;X81788 AAH15335;AAP35775;ABM81581;ABM84760;BAD96273;BAG36828;CAA57387;EAW89227;NP_001536;Q14197 Hs.407955 1681959;1850565;2108161 ICT1_8414;RH79169;RH79935 DS-1;DS1;MRP-L58 39S ribosomal protein L58, mitochondrial;digestion substraction 1;immature colon carcinoma transcript 1 protein;peptidyl-tRNA hydrolase ICT1, mitochondrial APPROVED protein-coding ENSG00000167862 HGNC:5359 04299 603000 REVIEWED 736819 ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11 26949273 26950494 + 30193086 30194318 + 31605283 31606515 + 1580863;6480464;6484113;6907045 10022839;10419887;11085505;11234019;11591653;11729207;11756408;11780052;11896613;11940648;12016143;12020803;12145280;12203366;12296825;12477932;12547711;12576450;12718878;12719589;12787042;12823438;12881706;12947323;12949053;14522471;14688027;14690332;14742319;14755252;15026801;15029197;15041724;15064751;15138269;15163661;15322112;15361847;15370294;15489334;15489884;15494533;15575081;15579766;15645115;15694377;15701714;15744343;15877825;15905202;16002046;16007194;16029118;16115231;16123120;16189525;16271072;16287090;16341674;16344560;16469432;16506209;16525633;16552541;16556596;16682435;16894355;17072841;17102133;17145808;17202424;17426247;17537403;17565736;17599389;17855368;17891176;17916352;18000500;18072288;18158619;18202790;18240291;18353975;18372912;18413773;18436795;18542061;18556654;18559972;18583319;18648363;18674781;18752043;18842581;18922905;19002177;19014499;19031736;19079342;19079362;19125693;19201527;19217708;19288008;19330020;19423615;19438642;19453261;19491902;19515385;19551863;19567783;19571317;19643984;19644139;19710505;19766362;19843640;19906510;19926394;19951400;20003244;20010941;20070914;20080245;20186495;20191379;20195544;20211142;20388787;20484992;20515335;20522807;20574154;20697353;20709421;20863724;20881502;20887552;21106423;21106425;21467165;21486943;21506108;21536374;21606196;21630092;21670698;21688151;21701587;21732357;21896993;21906983;21921026;21921784;21933340;21955753;21963094;21988832;21993163;22076920;22139627;22226665;22278018;22301282;22354994;22379092;22393458;22480390;22580608;22592405;22684559;22698403;22781717;22819717;23060149;23243024;23308043;23311395;23342268;23377983;23455924;23555842;23558671;23645773;23714001;23723304;23771884;23872946;23900621;24133588;24295493;24332369;24378760;24403496;24434151;24599583;24628854;7637581;8086456;8294468;8380166;8586447;9070860;9235903;9242638;9528857;9584154 3397 P41134 ABBA01019302;AI304595;AK291152;AK313786;AL110115;AL117381;AMYH02036899;BC000613;BC012420;BG546814;BI768231;BM856018;BT007443;CH471077;D13889;D13890;DA839689;NG_029639;NM_002165;NM_181353;S78825;S78986;U57645;X77956 AAB35037;AAB35038;AAC13882;AAC13883;AAH00613;AAH12420;AAP36111;ABM82219;ABM84268;ABM85403;ABM87656;ABW03609;ABW03909;ABW03919;BAA02988;BAA02989;BAF83841;CAA54920;EAW76432;EAW76433;EAW76434;NP_002156;NP_851998;P41134 Hs.504609 1792656;1793442;2177493 PMC156147P2;PMC22262P1;WI-9304 ID;bHLHb24 DNA-binding protein inhibitor ID-1;OTTHUMP00000030534;OTTHUMP00000030535;class B basic helix-loop-helix protein 24;dJ857M17.1.2 (inhibitor of DNA binding 1, dominant negative helix-loop-helix protein);inhibitor of differentiation 1;inhibitor of dna binding 1, helix-loop-helix protein (splice variation) APPROVED protein-coding ENSG00000125968 HGNC:5360 08980 600349 REVIEWED 732001 ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011] 2 2 2 p25 8735903 8738373 + 8822113 8824583 + 8681983 8684453 + 1580863;619536;6480464;6484113;6907045 11706002 10022839;10067894;10502414;10585876;10891368;10915743;11034201;11134340;11301021;11560778;11591653;11756408;11782392;11940648;12447693;12477932;12483209;12527902;12545167;12598895;12657241;12670915;12824180;12878164;14582708;14612502;14627819;14733935;14752053;15041724;15249128;15252039;15489334;15645115;15691830;15701714;15744343;16169070;16223775;16311606;16549780;16556596;16682435;16705184;16776654;16810178;16877363;17274640;1741406;17431671;17630394;17631285;18000500;18029348;18085637;18281534;18436795;18490653;18624398;18806828;19010462;19043732;19099554;19129913;19180920;19257909;19260835;19269192;19321746;19330020;19368689;19417068;19423615;19453261;19733838;19950294;20388805;20483740;20512523;20565746;20628624;20861012;20876741;20972266;21478550;21608079;21925315;21927809;21988832;22075330;22253220;22354994;22380883;22551584;22580608;22745378;22835384;23119064;23143248;23320068;23399020;23403953;23455924;23645773;23817569;23825313;24343358;24425046;24586788;7926730;8125298;8224921;8294468;8576241;8586447;8649364;9029153;9242638;9372912;9584154 3398 Q02363;Q53T66 ABBA01015571;AC011747;AK222682;AK311988;AMYH02003240;AY634687;BC030639;BE222494;CH471053;D13891;M97796;NM_002166 AAA58681;AAH30639;AAV35470;AAY14810;ABM81784;ABM84939;BAA02990;BAD96402;BAG34927;EAX01018;EAX01019;NP_002157;Q02363 Hs.180919;Hs.726053 1681939;1691086;1730765;1797722;2139292;2181391 D2S208E;D3S4003;ID2_2310;RH11441;RH25021;RH67912 GIG8;ID2A;ID2H;MGC26389;bHLHb26 DNA-binding protein inhibitor ID-2;DNA-binding protein inhibitor ID2;OTTHUMP00000140258;OTTHUMP00000200297;cell growth-inhibiting gene 8;class B basic helix-loop-helix protein 26;helix-loop-helix protein ID2;inhibitor of differentiation 2 APPROVED protein-coding ENSG00000115738 HGNC:5361 02664 600386 REVIEWED 1349998 ID2B inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene) INVOLVED IN negative regulation of transcription, DNA-templated (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 5-fluorouracil; elemental selenium; selenium atom 3 3 3 p14.2 62126231 62127465 - 62109097 62110392 - 62123423 62124718 - 1580863;6480464 23319000;8224921 84099 Q14602 ABBA01024331;AC104849;AMYH02006925;M96843;NG_000937 AAA16865 Hs.591670 1681939;1730765;2139292;2181391 D2S208E;D3S4003;RH11441;RH67912 pseudo HGNC:30656 INFERRED 734069 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011] 1 1 1 p36.13-p36.12 22214113 22216026 - 23884421 23886285 - 23557930 23559794 - 1580863;6480464;6907045 10022839;10585876;10593873;11591653;11756408;11940648;12054881;12477932;12547711;12952978;14627819;15342556;15370294;15451666;15489334;15494533;15583422;15645115;16271072;1628620;16449966;16556596;16682435;16710414;17537403;18255255;18281048;18374504;18477564;19054058;19477940;19515385;19948975;20080245;20185798;20191379;20211142;20512523;21030215;21191065;21486943;21498546;21837949;21933340;21963094;21975932;21987572;21993163;22151756;22354994;22505724;22698403;22882857;23060149;23119064;23143595;23311395;23342268;23768125;23771884;24222112;24343358;7777541;7821789;7828896;8437843;8632670;8645731;8759016;8798572;8804437;8999959;9242638;9372912;9525934;9821964 3399 Q02535 A17546;A17548;ABBA01059876;ABBA01059877;AK290003;AL021154;AMYH02000497;BC003107;BM921819;BP193075;BT006791;CH471134;D28449;NM_002167;X66924;X69111;X73428 AAH03107;AAP35437;ABM83430;ABM86465;ABM86643;BAA05815;BAF82692;CAA01342;CAA01343;CAA47360;CAA48862;CAA51827;EAW95060;EAW95061;NP_002158;Q02535 Hs.76884 1666678;1745767;1791974;2162709;2191723;2217464;5019024 G42964;GDB:636098;ID3_2919;MARC_5735-5736:996690763:1;PMC133998P6;RH70878;SHGC-74405 HEIR-1;bHLHb25 DNA-binding protein inhibitor ID-3;ID-like protein inhibitor HLH 1R21;OTTHUMP00000003263;class B basic helix-loop-helix protein 25;helix-loop-helix protein HEIR-1;inhibitor of differentiation 3 APPROVED protein-coding ENSG00000117318 HGNC:5362 02608 600277 REVIEWED 8694784 ID2-AS1 ID2 antisense RNA 1 (head to head) 2 2 2 p25.1 8724906 8732255 - 8811202 8813318 - 8670984 8681863 - 15146197;16344560 100506299 AA399274;AA970710;ABBA01015569;ABBA01015570;AC011747;AI022540;AI034463;AMYH02003238;AMYH02003239;AMYH02003240;BE551887;BX095318;CN314431;DA317685;DB336412;HG493619;HG493620;HY143594;NR_110153;NR_110154 Hs.439031;Hs.659481 ncrna ENSG00000235092 HGNC:51103 VALIDATED 1348687 IDDM10 insulin-dependent diabetes mellitus 10 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 10 (inferred); Interleukin 2 Receptor, Alpha, Deficiency of (inferred) 734541;7240710 9215668 3409 1337452;1341283;7187018;7187427;7187940 D10S193;D10S197;D10S220;D10S582 HGNC:5364 601942;606367 736051 ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein This gene encodes a member of the inhibitor of DNA binding (ID) protein family. These proteins are basic helix-loop-helix transcription factors which can act as tumor suppressors but lack DNA binding activity. Consequently, the activity of the encoded protein depends on the protein binding partner. [provided by RefSeq, Dec 2011] 6 6 6 p22.3 21070861 21074159 + 19837579 19842431 + 19837348 19842200 + 1580863;6480464;6907045 11136250;11756408;12477932;12969807;14534543;14574404;14633621;15489334;15569977;15723065;15876350;16682435;17474147;17510533;17940204;18088456;18426657;18513385;18549611;18575765;18676808;18807039;18928580;19099656;19543515;19549375;19783986;19853913;20201924;20339536;20881960;21098398;21129259;21176338;21531766;21663940;21729527;21882048;22169289;22354994;22380883;22479372;22538771;23132729;23342267;23472165;23613880;23670122;24122992;24330748;24343358;7665172;8759016;9418957;9872455 3400 P47928 ABBA01022246;AI692586;AJ420553;AK130851;AL022726;AMYH02013251;BC014941;CH471087;DB461864;NM_001546;U16153;U28368;XM_005249076;Y07958 AAA73923;AAA82882;AAH14941;CAA69255;EAW55416;NP_001537;P47928;XP_005249133 Hs.519601;Hs.663469 1680649;1797724;2124976;2141544;2146228;2163301;2173285;5123957;5492133 A007A41;AL020973;D6S1228E;ID4_2076;Idb4;RH46626;RH91195;WI-13751;WI-7424 IDB4;bHLHb27 DNA-binding protein inhibitor ID-4;OTTHUMP00000016081;class B basic helix-loop-helix protein 27;inhibitor of differentiation 4 APPROVED protein-coding HGNC:5363 08995 600581 VALIDATED 1354194 IDDM11 insulin-dependent diabetes mellitus 11 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 11 (inferred) 7240710 8617492 3410 1337934;1341752;7186423 D14S67;D14S70 HGNC:5365 601208 1344899 IDDM12 insulin-dependent diabetes mellitus 12 ASSOCIATED WITH Celiac Disease (inferred); Diabetes Mellitus, Insulin-Dependent, 12 (inferred); Hashimoto Disease (inferred) 7240710 8817351 3411 HGNC:5366 140300;601388;609755 1350047 IDDM14 insulin-dependent diabetes mellitus 14 3413 HGNC:5368 1347272 IDDM13 insulin-dependent diabetes mellitus 13 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 13 (inferred) 7240710 8650584 3412 HGNC:5367 601318 1348722 IDDM15 insulin-dependent diabetes mellitus 15 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 15 (inferred) 7240710 8981961 3414 7186757 D6S283 HGNC:5369 601666 1352929 IDDM16 insulin-dependent diabetes mellitus 16 3415 HGNC:5370 1353800 IDDM17 insulin-dependent diabetes mellitus 17 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 17 (inferred) 734512;7240710 9788970 8691 1340126;7184015 D10S217 HGNC:5371 603266 1345918 IDDM18 insulin-dependent diabetes mellitus 18 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 18 (inferred) 7240710 57044 HGNC:5372 605598 1346720 IDDM2 insulin-dependent diabetes mellitus 2 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 2 (inferred); Diabetes Mellitus, Permanent Neonatal (inferred); MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 (inferred) 7240710 1944595 3401 1334892;1336452;7185697 D11S1313;D11S903;D11S922 HGNC:5373 125852;606176;613370 1349326 IDDM3 insulin-dependent diabetes mellitus 3 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 3 (inferred) 7240710 7842018 3402 1338475 D15S107 HGNC:5374 600318 1351919 IDDM4 insulin-dependent diabetes mellitus 4 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 4 (inferred) 7240710 7842018;8072542 3403 1298162;1338714;1341457;2133287;7183805;7186147 D11S1296;D11S1321;D11S911;D11S916;D11S937;PYGM HGNC:5375 600319 1348820 IDDM5 insulin-dependent diabetes mellitus 5 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 5 (inferred) 7240710 8072542 3404 HGNC:5376 600320 1351545 IDDM6 insulin-dependent diabetes mellitus 6 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 6 (inferred) 1298359;7240710 9215667 3405 1340272;1341413 D18S39;D18S64 HGNC:5377 601941 1347496 IDDM8 insulin-dependent diabetes mellitus 8 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 8 (inferred) 7240710 7573053 3407 7183786 D6S281 HGNC:5379 600883 1345102 IDDM7 insulin-dependent diabetes mellitus 7 ASSOCIATED WITH Diabetes Mellitus, Insulin-Dependent, 7 (inferred) 7240710 7813807 3406 1338110 D2S152 HGNC:5378 600321 1350561 IDDM9 insulin-dependent diabetes mellitus 9 3408 HGNC:5380 732801 IDE insulin-degrading enzyme This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009] 10 10 10 q23-q25 87952861 88075347 - 94211441 94333852 - 92451684 92574095 - 737718;737717;1580863;1626696;1626697;1626698;6480464;6907045 10958757;12634421;12765971;16380485;17192720 10684867;11145591;11809755;12161276;12477932;12507914;12716770;12746301;12850277;14517947;14702039;14755451;14764804;15024728;15088150;15181249;15277398;15277615;15285718;15489232;15590928;15718037;15850385;15858813;15858821;15911128;1607078;16344560;16385451;16511862;16574064;16675064;16876916;16914266;17051221;17055432;17143514;17192785;17244626;17293876;1733942;1743072;17463249;17496198;17579348;17601350;17613531;17715127;17804762;17827400;17913278;17953957;17964527;17971426;18212765;18226493;18411275;18426861;18448515;18591388;18618095;18621727;18633108;18719881;18783335;18813847;18977241;18984664;18986166;18996360;19019493;19053027;19082521;19139842;19228808;19239107;19321446;19383491;19396426;19453261;19592050;19592620;19602701;19606063;19622614;19741166;19785409;19794065;19808678;19808892;19809796;19862325;19864391;19864659;19889475;19896952;19913121;19933996;20033747;20082125;20098734;20161779;20178365;20203524;20360068;20362553;20364150;20380468;20384434;20460429;20490451;20581827;20628086;20663017;20703447;20724036;20816152;20877624;20880607;20927120;20971110;21098034;21139048;21185309;21232820;21343292;21731745;21800051;21873424;21890473;21903422;21906983;21963094;21992747;22036964;22053931;22107728;22267728;22502914;22837378;22863883;2293021;23000965;23036584;23416320;23525105;23597493;23797320;23922390;24250222;24654937;24778252;24816145;3059494;6401723;758022;7731996;8051160;8077210;8425612;9070242;9231799;9830016 3416 P14735;Q5T5N3;R4GN65 AB209204;ABBA01021902;ABBA01021903;ABBA01021904;ABBA01021905;ABBA01021906;AK093287;AK302578;AK312810;AK316407;AL356128;AMYH02023539;AMYH02023540;AMYH02023541;AMYH02023542;BC036188;BC096336;BC096337;BC096338;BC096339;BX648462;CF780766;CH471066;CK824565;DA643304;DA879845;DB204538;DB219527;DB445060;HB485919;M21188;NG_013012;NM_001165946;NM_004969;XM_005269766;XM_005269769 AAA52712;AAH96336;AAH96337;AAH96339;BAD92441;BAG35668;BAG52680;BAH13752;BAH14778;CBA13324;EAW50090;EAW50091;EAW50092;EAW50093;NP_001159418;NP_004960;P14735;XP_005269823;XP_005269826 Hs.500546 1690624;1742241;1774334;1854649;2122762;2138860;2170333;5017477 D10S2141;GDB:193867;IDE;RH44800;RH80115;STS-D29519;STS-T88914;WI-17525 FLJ35968 Abeta-degrading protease;OTTHUMP00000020097;insulin degrading enzyme;insulin protease;insulinase;insulysin 2314830 INSUL25_H APPROVED protein-coding ENSG00000119912 HGNC:5381 00894 146680 REVIEWED 5688834 IDH1-AS1 IDH1 antisense RNA 1 2 2 2 202887882 202888818 + 209119957 209120918 + 208255233 208256194 + 100507475 ABBA01062707;AC016697;AI783767;AMYH02005661;BJ994720;NG_023319;NR_046452 Hs.668038 APPROVED ncrna ENSG00000231908 HGNC:40292 VALIDATED 737145 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013] 2 2 2 q33.3 202868863 202887731 - 209100951 209120478 - 208236227 208255143 - 1300048;1580863;1626475;6480464;6907045;7240710;8554872 14969338 10521434;11076863;11230166;11256614;12477932;12923220;15173171;15489334;15489336;15936593;16169070;16236267;16344560;16381901;16396496;16751257;16756494;17623298;18187620;18772396;18854154;18985363;19056867;19117336;19228619;19246647;19322201;19340432;19350208;19351817;19359588;19378339;19411854;19435942;19469031;19543740;19554337;19636000;19657110;19667985;19755387;19765000;19805672;19903171;19915015;19915484;19933982;19935646;20077503;20097881;20127344;20129251;20131059;20133500;20142433;20160062;20171147;20171178;20174854;20178365;20227112;20367200;20368538;20368543;20376084;20376086;20410924;20427748;20459648;20465388;20473936;20485375;20494930;20508616;20510884;20514489;20534697;20538800;20560678;20567020;20603105;20615753;20625116;20634891;20651067;20659156;20661018;20667415;20678218;20692206;20702649;20725730;20805365;20874727;20877624;20880116;20944672;20946881;20962861;20972461;20975057;20975740;21045145;21069360;21075857;21079611;21079649;21080178;21083371;21088844;21130701;21139048;21163902;21173122;21177338;21181477;21225914;21233841;21284999;21289278;21294161;21301070;21307773;21314850;21316759;21319273;21326241;21326614;21343879;21346257;21356389;21383741;21437454;21480859;21481010;21506885;21516462;21539821;21569770;21575384;21598255;21625441;21643842;21643985;21647152;21647154;21690245;21707716;21717448;21755347;21781445;21784755;21845536;21867611;21873548;21874255;21885076;21890473;21898821;21904853;21906983;21910919;21912393;21922591;21929658;21955925;21963094;21983902;21996744;21997850;22002076;22015945;22020636;22025298;22033490;22034964;22052461;22057234;22057236;22064513;22072542;22074484;22076165;22101433;22106302;22113362;22136423;22144470;22147457;22166653;22172803;22180306;22192702;22197544;22199315;22217666;22238332;22238333;22264756;22270848;22281465;22291938;22322613;22323113;22326863;22343889;22343901;22360629;22360810;22385606;22392125;22396072;22396073;22397365;22399191;22410704;22415316;22427879;22432788;22445362;22503487;22520341;22528790;22616558;22668828;22683334;22687971;22688054;22748659;22752663;22763442;22772731;22772980;22781348;22781800;22785212;22790483;22809434;22824796;22825915;22844452;22863883;22868530;22869205;22885298;22890969;22899282;22904127;22917530;22922798;22922872;22929312;22939629;22945896;22968464;23000965;23011765;23015095;23035067;23038259;23039322;23041832;23053494;23063752;23064941;23071358;23072665;23074281;23079654;23111198;23115158;23135354;23184331;23187294;23192014;23204232;23223340;23232569;23236540;23264629;23307057;23330999;23358936;23361564;23365461;23391413;23410661;23412777;23429602;23438035;23451042;23451940;23485734;23486687;23486690;23494632;23494873;23504258;23512379;23532369;23558169;23561624;23581583;23598960;23641016;23681562;23689617;23731180;23737489;23793099;23801081;23817809;23840696;23877318;23894344;23904262;23918605;23934175;23934769;23954893;23988086;23996483;23999441;24004584;24019001;24046070;24068788;24077277;24089051;24129546;24149775;24160898;24295421;24305719;24311631;24324372;24333121;24368190;24376688;24511544;24590270;24755473;24816145;24887488;24898068;24922649;25027693;25029120;25033601;25043045;3861566;4388365;4422176;7551812;9866202 3417 C9J4N6;C9JJE5;C9JLU6;O75874;V9HWJ2 ABBA01062707;AC016697;AF020038;AF113917;AF197566;AK302105;AK312242;AL136702;AMYH02005661;BC012846;BC021046;BC093020;BX537411;CH471063;CR533522;CR536499;CR541695;DA707595;DA728868;DQ403082;DR158630;EU794623;FJ224342;N21575;NG_023319;NM_001282386;NM_001282387;NM_005896;U62389 AAB17375;AAD02918;AAD29284;AAG43470;AAH12846;AAH93020;AAX93221;ABD77215;ABM82361;ABW03396;ACI46034;ACJ13677;BAG35175;BAG63486;CAB66637;CAD97653;CAG38553;CAG38738;CAG46496;CAL37462;CAL37490;CAL38069;EAW70439;EAW70440;EAW70441;EAW70442;NP_001269315;NP_001269316;NP_005887;O75874 Hs.593422 1648600;1663618;1684650;1689678;1694830;1848139;2134095;2156491;2217466 G30308;G43665;IDH1_3388;RH41922;RH47131;RH68077;RH81021;SHGC-2545;SHGC-37075 HEL-216;HEL-S-26;IDCD;IDH;IDP;IDPC;PICD NADP(+)-specific ICDH;NADP+-specific ICDH;NADP-dependent isocitrate dehydrogenase, cytosolic;NADP-dependent isocitrate dehydrogenase, peroxisomal;OTTHUMP00000163870;OTTHUMP00000206464;OTTHUMP00000206466;cytosolic NADP-isocitrate dehydrogenase;epididymis luminal protein 216;epididymis secretory protein Li 26;isocitrate dehydrogenase 1;isocitrate dehydrogenase [NADP] cytoplasmic;oxalosuccinate decarboxylase APPROVED protein-coding ENSG00000138413 HGNC:5382 00984 137800;147700 REVIEWED 733177 IDH3A isocitrate dehydrogenase 3 (NAD+) alpha Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008] 15 15 15 q25.1-q25.2 55378247 55399414 + 78441698 78462884 + 78149362 78170542 + 1580863;2306828;6480464;6907045 938457 10601238;10677231;12477932;12488461;12543931;12601813;14555658;14702039;15489334;16236267;16737955;17314511;17432878;18029348;18457437;19615732;20306291;20562859;20811636;20877624;21139048;21890473;21906983;21963094;21988832;22190034;22939629;23125841;23798571;24583282;24816145;25027693;7755589;8125298;8833160 3419 B4DJB4;B7Z9J8;H0YKD0;H0YL05;H0YL72;H0YLF8;H0YLI6;H0YM46;H0YM64;H0YMU3;H0YMY5;H0YNF5;H0YNF8;P50213;Q68D72 ABBA01060579;AC090260;AK093531;AK222973;AK296002;AK299970;AK315963;AK316051;AL110096;AL442090;AMYH02030859;BC021967;BC036227;CH471136;CR749548;NM_005530;U07681;XM_005254334;XM_005254336;XM_005254337 AAA85639;AAH21967;ABM83700;ABM84455;ABM87021;BAD96693;BAG58776;BAG61796;BAH14334;BAH14422;CAC09449;CAH18348;EAW99181;EAW99182;NP_005521;P50213;XP_005254391;XP_005254393;XP_005254394 Hs.591110 1679974;1767799;1848938 D15S1087;RH64913;STS-U07681 H-IDH alpha;NAD(+)-specific ICDH subunit alpha;NAD(H)-specific isocitrate dehydrogenase alpha subunit;NAD+-specific ICDH;OTTHUMP00000184906;isocitrate dehydrogenase (NAD+) alpha chain;isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial;isocitric dehydrogenase subunit alpha APPROVED protein-coding HGNC:5384 03094 601149 REVIEWED 1313391 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 15 15 15 q26.1 67031136 67049657 - 90626283 90645730 - 90083978 90102476 - 1580863;6480464;6907045;7240710;8554872;8699517 11969;12477932;12665801;15489334;16335966;16396496;17854715;18029348;18096511;18484410;19228619;19350208;19469031;19530255;19554337;19667985;19765000;19915015;19915484;19933982;20131059;20142433;20160062;20171147;20367200;20368543;20376084;20410924;20421455;20427748;20465388;20485375;20494930;20508616;20510884;20538800;20567020;20603105;20625116;20659156;20678218;20692206;20713124;20847235;20861910;20877624;20880116;20929316;20929327;20946881;20962861;20962862;20972461;20975057;21075857;21079611;21080178;21130701;21139048;21173122;21225914;21233841;21284999;21289278;21294161;21307773;21319273;21326614;21346257;21383741;21454467;21480859;21504050;21596855;21598255;21625441;21643842;21643985;21647152;21647154;21690245;21741430;21867611;21874255;21885076;21889589;21890473;21904853;21988832;21996744;21997850;22002076;22020636;22033490;22034964;22057234;22057236;22072542;22106302;22136423;22147457;22166653;22180306;22215888;22217666;22270848;22323113;22343901;22360629;22360810;22385606;22397365;22399191;22410704;22415316;22416140;22427879;22494415;22503487;22505724;22520341;22616558;22683334;22687971;22781800;22790483;22824796;22825915;22890969;22917530;22922872;22929312;23015095;23038259;23039322;23071358;23074281;23111198;23115158;23135354;23187294;23192014;23232569;23264629;23330999;23361564;23365461;23391413;23410661;23451940;23494632;23512379;23532369;23598960;23641016;23681562;23689617;23752268;23798571;23874603;23877318;23894344;23918605;23996483;23999441;24065766;24149775;24295421;24311631;24333121;24374336;24403254;24418992;24583282;24654937;24716838;24816145;24887488;24898068;25043045;3363531;564083;752528;8125298;8707889;8954790;965003;970033 3418 B4DSZ6;H0YL11;H0YLL5;P48735 ABBA01053039;AC087284;AC092769;AK222916;AK294148;AK299987;AK312627;AK316388;AMYH02031037;BC009244;BC071828;CH471101;HC895649;HC898572;HY010337;NG_023302;NM_001289910;NM_001290114;NM_002168;X69433 AAH09244;AAH71828;ABM83743;ABM87062;BAD96636;BAG35513;BAG57473;BAG61808;BAH14759;CAA49208;CBN62262;CBN63691;EAX02082;EAX02083;NP_001276839;NP_001277043;NP_002159;P48735 Hs.596461 1854065;2108163;2146551;5093402 A009O05;G32697;IDH2_7805;STS-X69433 D2HGA2;ICD-M;IDH;IDHM;IDP;IDPM;mNADP-IDH NADP(+)-specific ICDH;NADP+-specific ICDH;OTTHUMP00000194691;isocitrate dehydrogenase [NADP], mitochondrial;isocitrate dehydrogenase, mitochondrial;oxalosuccinate decarboxylase APPROVED protein-coding HGNC:5383 00973 147650;613657 REVIEWED 1349945 IDH3B isocitrate dehydrogenase 3 (NAD+) beta Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p13 2703504 2709306 - 2639041 2644865 - 2658395 2664219 - 1580863;2306828;6480464;6907045;8699517;7240710;8554872 938457 10575215;10601238;10677231;11780052;12477932;14555658;14702039;15489334;15653693;16169070;16713569;16737955;17314511;17432878;17567985;18457437;18806796;19498431;20301590;20435888;20877624;21139048;21890473;21900206;21906983;22678362;23443559;23798571;25027693 3420 O43837 ABBA01053795;AF046929;AK001905;AK300485;AK309488;AK315641;AL049712;AL050094;AMYH02036584;BC001960;BC019037;BG745042;BP872064;BX647393;CH471133;NG_012149;NM_001258384;NM_006899;NM_174855;XM_005260716 AAF20164;AAH01960;ABM83487;ABM86702;ABM86742;ACE86681;ACE87365;BAA91971;BAG38008;BAG62200;CAB43266;EAX10578;EAX10579;EAX10580;EAX10581;EAX10582;EAX10583;NP_001245313;NP_008830;NP_777280;O43837;XP_005260773 Hs.436405 1340408;1712230;1769739;1852929;1853230;2108315;2169998;2191539;2217468;5014518;5091321;5091701 D20S1022;D20S198;D20S559E;G54023;IDH3B_3390;MARC_26128-26129:1030370563:1;NOL5A_7975;RH74;RH78034;RH78746;SGC32750;WI-16193 FLJ11043;H-IDHB;MGC903;RP46 NAD(+)-specific ICDH subunit beta;NAD+-specific ICDH;NAD+-specific isocitrate dehydrogenase b subunit;NAD+-specific isocitrate dehydrogenase beta;OTTHUMP00000030023;OTTHUMP00000030024;isocitrate dehydrogenase [NAD] subunit beta, mitochondrial;isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, beta subunit;isocitric dehydrogenase subunit beta APPROVED protein-coding ENSG00000101365 HGNC:5385 05163 604526;612572 REVIEWED 735459 IDI1 isopentenyl-diphosphate delta isomerase 1 IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008] 10 10 10 p15.3 1036251 1044473 - 1085963 1095061 - 1040023 1049121 - 1580863;1300048;2316857;6480464;6907045 16876788 12477932;12860252;14629038;15489334;16806233;17180682;17202134;17250851;18660489;19738201;20877624;20955688;21139048;21890473;21906983;21963094;21987572;22053931;22990118;8020941;8125298;8188698;8806705 3422 C9JD53;C9JKM8;Q13907 ABBA01035260;AC022536;AF271720;AF271724;AF291755;AK222875;AK303669;AK311110;AMYH02021985;AX399849;BC005247;BC006999;BC019227;BC022418;BC025375;BC057827;BC107893;BE891119;BT006761;BX537663;BX648472;CH471072;NM_004508;X17025;XM_005252445 AAH05247;AAH06999;AAH19227;AAH22418;AAH25375;AAH57827;AAI07894;AAK29357;AAK49434;AAK49435;AAP35407;BAD96595;BAG64667;CAA34890;CAD33293;EAW86520;EAW86521;NP_004499;Q13907;XP_005252502 Hs.283652 1662005;1663115;1664154;1665115;2119759;2130108;2144720;2174631;2184317;2217470 D10S1346E;D10S1857;D10S2193;IDI1_3392;RH18092;RH68721;RH79159;SHGC-31614;WI-17935;WIAF-2199 IPP1;IPPI1 IPP isomerase 1;OTTHUMP00000018949;OTTHUMP00000018951;isopentenyl diphosphate dimethylallyl diphosphate isomerase 1;isopentenyl pyrophosphate isomerase 1;isopentenyl-diphosphate Delta-isomerase 1;isopentenyl-diphosphate delta isomerase APPROVED protein-coding ENSG00000067064 HGNC:5387 07235 604055 VALIDATED 731354 IDH3G isocitrate dehydrogenase 3 (NAD+) gamma Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the gamma subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate gene for periventricular heterotopia. Several alternatively spliced transcript variants of this gene have been described, but only some of their full length natures have been determined. [provided by RefSeq, Jul 2008] X X X q28 153284902 153293648 - 153051221 153059978 - 153785766 153794523 - 1302383;1580863;2306828;6480464;6907045 9286695;938457 10601238;10677231;11076863;11181995;11256614;12477932;14555658;15489334;15489336;16381901;16737955;17314511;17432878;18029348;22939629;23798571;8661155 3421 E7EQB8;E9PF84;G5E9Q7;H0Y5Q7;H7C1W2;O15384;P51553 AB209206;ABBA01045357;AMYH02040844;BC000933;BC001902;BI831096;CH471172;NM_004135;NM_174869;U40272;U52111;U69268;U69269;Z68129;Z68907 AAB70115;AAB70116;AAD09357;AAH00933;AAH01902;BAD92443;CAA92214;CAA93143;CAL38011;CAL38125;EAW72792;EAW72793;EAW72794;EAW72796;EAW72797;EAW72798;EAW72799;EAW72800;EAW72801;EAW72802;EAW72803;EAW72804;EAW72806;NP_004126;NP_777358;P51553 Hs.410197 1665020;1676890;1688084;1856694;2109897;5094504 DXS7064;G54852;RH12600;RH92620;RH92840;STK23_9495 H-IDHG IDH-gamma;NAD (H)-specific isocitrate dehydrogenase gamma subunit;NAD(+)-specific ICDH subunit gamma;NAD+-specific ICDH;OTTHUMP00000025984;OTTHUMP00000025985;OTTHUMP00000025987;OTTHUMP00000025988;OTTHUMP00000214764;isocitrate dehydrogenase 3, gamma;isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial;isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, gamma subunit;isocitric dehydrogenase subunit gamma APPROVED protein-coding ENSG00000067829 HGNC:5386 02100 300089 REVIEWED 1353147 IDI2-AS1 IDI2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; cisplatin 10 10 10 p15.3 1018855 1040431 + 1068577 1090141 + 1022637 1044201 + 6480464;8554872 10931946;12477932;22566498;24036268 55853 Q9BXS2;Q9NZ38 ABBA01035260;AC022536;AF220183;AF291755;AK314921;AMYH02021985;BC018729;BC050694;BC104155;BC104156;BC112975;BC112976;BF724542;CH471072;HG502568;HG502569;HG502570;HG502571;KF455186;NR_024628;NR_024629;NR_027708;NR_027709 AAF67648;AAK29359;EAW86522;EAW86523;EAW86524;Q9NZ38 Hs.728538 1662005;1663115;1664154;1735992;2130108;2144720;2174631;2217470 D10S1280E;IDI1_3392;RH18092;RH68721;RH79159;SHGC-31614;WI-17935;WIAF-2199 C10orf110;HT009;IDI2-AS APPROVED ncrna HGNC:30885 12561 615391 VALIDATED 1347065 IDNK idnK, gluconokinase homolog (E. coli) ENCODES a protein that exhibits ATP binding (inferred); gluconokinase activity (inferred); INVOLVED IN D-gluconate catabolic process (inferred); phosphorylation (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; cyclosporin A 9 9 9 q21.32 56808060 56829073 + 86237964 86259045 + 83623049 83644130 + 6480464 12477932;16712791;18029348;23067238 414328 E9PP74;E9PP88;F8W7J0;Q5T6J7;Q5T6J8 ABBA01034001;AF086281;AL354920;AMYH02021116;AMYH02021117;AY615889;BC036421;BC045782;BC142991;CA866332;CB151823;CH471089;DB496275;NM_001001551;NM_001256915;NR_046421;NR_046422;W69675;XM_006717110;XM_006717111;XM_006717112 AAI40078;AAI40079;AAI42992;AAT27441;EAW62654;EAW62655;EAW62656;EAW62657;NP_001001551;NP_001243844;Q5T6J7;XP_006717173;XP_006717174;XP_006717175 Hs.530261 1682375;2123615;2175114 RH99118;SHGC-52640;SHGC-57524 C9orf103;bA522I20.2 OTTHUMP00000021547;OTTHUMP00000021548;glucokinase-like protein;gluconate kinase;gluconokinase-like protein;probable gluconokinase APPROVED protein-coding ENSG00000148057 HGNC:31367 16671 611343 VALIDATED 1317828 IDI2 isopentenyl-diphosphate delta isomerase 2 ENCODES a protein that exhibits isopentenyl-diphosphate delta-isomerase activity; INVOLVED IN isopentenyl diphosphate metabolic process; isoprenoid biosynthetic process; PARTICIPATES IN terpenoid biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN peroxisome; INTERACTS WITH 17beta-estradiol (ortholog); benzo[a]pyrene (ortholog); cefaloridine (ortholog) 10 10 10 p15.3 1015125 1022085 - 1064847 1071799 - 1018907 1025859 - 737633;1580863;6480464;6907045;8554872 12477932 14629038;14702039;15489334;16147992;16385451;17202134;17207965;20955688;21890473;8806705 91734 Q9BXS1 ABBA01035260;AC022536;AF271725;AF271729;AF291755;AK056950;AMYH02021985;BC017778;BC040651;CH471072;NM_033261 AAH17778;AAK29358;AAK49436;AAK49437;ADQ32277;BAB71322;EAW86525;NP_150286;Q9BXS1 Hs.591325;Hs.9270 1682902;1689847;1735992;2123868;2185476;2217472;5015404;5015619;5015961;5016478;5021872;5022200;5022463;5037552 D10S1280E;D11S3114;D15S1477;D3S1673;D8S2279;GDB:434012;IDI2_3634;L17705;L18426;RH44779;RH65829;RH76789;RH98338;sY3084 IPPI2 IPP isomerase 2;OTTHUMP00000018952;diphosphate dimethylallyl diphosphate isomerase 2;isopentenyl pyrophosphate isomerase 2;isopentenyl-diphosphate Delta-isomerase 2 protein-coding ENSG00000148377 HGNC:23487 17127 615389 PROVISIONAL 1602972 IDO2 indoleamine 2,3-dioxygenase 2 Along with the enzymes encoded by the INDO (MIM 147435) and TDO2 (MIM 191070) genes, the enzyme encoded by the INDOL1 gene metabolizes tryptophan in the kynurenine pathway (Ball et al., 2007 [PubMed 17499941]).[supplied by OMIM, Feb 2011] 8 8 8 p11.21 38744208 38825740 + 39792474 39873910 + 39934955 40016391 + 6480464;6907045 12477932;14702039;17430106;17499941;17671174;19476837;19487973;19799997;21084489;21406395;21835273;23651343;24391212;24858687 169355 F5H5G0;Q6ZQW0 ABBA01015906;AC007991;AC087518;AK092502;AK128691;AMYH02017848;AMYH02017849;BC031685;BC113496;BC113498;CH471080;EF052681;NM_194294 AAI13497;AAI13499;ABM69260;BAC87573;EAW63269;NP_919270;Q6ZQW0 Hs.676257 1743365;2149079;5022450;5037552;5109281 D10S275;D1S1425;D8S2279;G10419;GDB:315505 IDO-2;INDOL1 OTTHUMP00000223617;indoleamine 2,3-dioxygenase-like 1 protein;indoleamine 2,3-dioxygenase-like protein 1;indoleamine-pyrrole 2,3 dioxygenase-like 1;indoleamine-pyrrole 2,3-dioxygenase-like protein 1 APPROVED protein-coding ENSG00000188676 HGNC:27269 14113 612129 VALIDATED 1346818 IDO1 indoleamine 2,3-dioxygenase 1 This gene encodes indoleamine 2,3-dioxygenase (IDO) - a heme enzyme that catalyzes the first and rate-limiting step in tryptophan catabolism to N-formyl-kynurenine. This enzyme acts on multiple tryptophan substrates including D-tryptophan, L-tryptophan, 5-hydroxy-tryptophan, tryptamine, and serotonin. This enzyme is thought to play a role in a variety of pathophysiological processes such as antimicrobial and antitumor defense, neuropathology, immunoregulation, and antioxidant activity. Through its expression in dendritic cells, monocytes, and macrophages this enzyme modulates T-cell behavior by its peri-cellular catabolization of the essential amino acid tryptophan.[provided by RefSeq, Feb 2011] 8 8 8 p12-p11 38723061 38737682 + 39771328 39786309 + 39913809 39928790 + 1580863;2290313;2290190;6480464;6907045 10719243;3400092 10737800;11180976;11230514;11867636;11876748;11912287;11987129;12186837;12228717;12444143;12471139;12477932;12738417;12766158;12938169;12963490;13678429;1449503;14502282;14704851;14871294;14969766;15001472;15070879;15102781;15245429;15254595;15374002;15489334;15528322;15711557;15919929;15947091;15950064;15967116;16135011;16169070;16176799;16319139;16344560;16406698;16421220;16477023;16489067;16511306;16513157;16686756;16834326;16842443;17015408;17038913;17158233;1716396;17170728;17182891;17192467;17202379;17207965;17229698;17294609;17318080;17321596;17376903;17393386;17433037;17535808;17605849;17626075;17674321;17711549;17911610;17951526;18008147;18026683;18036645;18045970;18055547;18176870;18205804;18274832;18299324;18332894;18370410;18438685;18622801;18639339;18660700;18776940;18802343;18832696;19004406;19010841;19050070;19058839;19074858;19106591;19155537;19168733;19264674;19306922;19353519;19363598;19434461;19448397;19465693;19487045;19489917;19514129;19564344;19597340;19604093;19604349;19693771;19695096;19737010;19740345;19783182;19815714;19828629;19829303;19844741;19929471;19933867;20128646;20192952;20201926;20331378;20361220;20386557;20484731;20522587;20570568;20602605;20635895;20648630;20663292;20689575;20691806;20801903;20938662;21028817;21030093;21044950;21094802;2109605;21118329;21176371;21292009;21324164;21328335;21355883;21359206;21361337;21461563;21461581;21487895;21501890;21502325;21517752;21517753;21517755;21517756;21517757;21575365;21592112;21600662;21616522;21617756;21666788;21690092;21691274;21692032;21693183;21712776;21742973;21755000;21823214;21832049;21835147;21835273;21892828;21952237;21980470;22013481;22039265;22069308;22093628;22110525;22112045;22184722;22202241;22301793;22424783;22519828;22526360;22592557;22638210;22690871;22722711;22751107;22828446;22860140;22891315;22913669;22923135;22929065;22932670;22936460;23025307;23090116;23179760;23200754;23209301;23232072;2326172;23289444;23344392;23358471;23411497;23413147;23426156;23440412;23620105;23651343;23669411;23682557;23751345;23752227;23847296;23853597;23898208;23949777;23973990;23986400;24073214;24102581;24252613;24268989;24282429;24337170;24391212;24517146;24612287;24687552;24696473;24721110;24795458;2482041;2501398;2549057;2848333;8404046;8406467;8817290;9712583 3620 E5RGR8;E5RH36;E5RIX2;J3KN03;P14902 ABBA01015907;AC007991;AK313259;AMYH02017848;AU137351;AY221100;BC027882;BF094375;CD366252;CD690354;CH471080;HI179038;JF772862;M34455;NG_028155;NM_002164;X17668 AAA36081;AAH27882;AAO34405;ADQ31773;AEF30540;BAG36069;CAA35663;CBX53828;EAW63270;EAW63271;EAW63272;NP_002155;P14902 Hs.840 1743251;1743433;1774030;1857363;5014051;5015619;5022200;5037552 D11S3114;D8S2278;D8S2279;GDB:313220;GDB:319998;L18426;RH17694;SHGC-12674 CD107B;IDO;IDO-1;INDO OTTHUMP00000225716;OTTHUMP00000226123;indolamine 2,3 dioxygenase;indole 2,3-dioxygenase;indoleamine-pyrrole 2,3 dioxygenase;indoleamine-pyrrole 2,3-dioxygenase APPROVED protein-coding HGNC:6059 00935 147435 REVIEWED 1351665 IDS iduronate 2-sulfatase The protein encoded by this gene belongs to the sulfatase family, is localized to the lysosome, and is involved in lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease, mucopolysaccharidosis type II, also known as Hunter syndrome. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2013] X X X q28 148909049 148935639 - 148560295 148586884 - 149478764 149505354 - 1599819;1580863;6480464;7240710;8554872;8699517 1550586 10215411;10220152;10447264;10671065;10737977;10838181;11015461;11256614;11462244;11683780;11731225;12477932;12655569;12794697;1284597;1303211;1355630;14702039;15146197;15146464;15500445;15614569;15772651;15909065;16133661;16344560;1639384;16480701;16617305;16699754;16735228;17063374;17091340;17284421;17616540;17655837;17657858;18500569;18546295;1901826;1906048;19602578;19913121;19933090;20104590;20125193;20301451;20467438;20628086;21062272;21108396;2122463;21593745;2222422;22492741;22622771;22990955;23867855;24125893;3104200;6418082;7581397;7599640;7728156;7866405;7887413;7981716;8111411;8244397;8281149;8318991;8364592;8490623;8528670;8530090;8566953;8664909;8717057;8830188;8940265;9147653;9222763;9266380;9337875;9375851;9501270;9660053;9762601;9875019;9921913;9950361 3423 B3KWA1;B4DGD7;B4DIX1;E5RHJ1;H0YB91;O60597;P22304 ABBA01049654;ABBA01049655;ABBA01049656;ABBA01049657;AC233288;AC244197;AF011889;AF050145;AI242974;AK055600;AK057191;AK294541;AK295815;AL117536;AMYH02040760;BC006170;BX647357;BY996633;CH471171;CN303532;DA325538;DA351886;DB500211;EF363095;HH961810;JC013507;L04586;L13321;L13329;L38660;L40586;M58342;NG_011900;NM_000202;NM_001166550;NM_006123;NR_104128 AAA16877;AAA59192;AAA63197;AAA92014;AAB64180;AAC05984;AAC77828;AAH06170;BAG57748;BAG58633;CBX51378;CDL93518;EAW61280;EAW61281;EAW61282;EAW61283;EAW61284;EAW61285;NP_000193;NP_001160022;NP_006114;P22304 Hs.460960 1653776;1653778;1660564;1702624;1702672;1744827;1744829;1745641;1745643;1745647;1745649;1745651;1745653;1745657;1745659;1745661;1745663;1754441;1793630;1857249;2114226;2114590;2124715;2131795;2149621;2166446;2169412;2190863;2219826;5015619;5022200;5117887;5117889;5117891 D11S3114;DXS6981E;DXS7018E;DXS9739;G27404;GDB:511278;GDB:568794;GDB:568797;GDB:629871;GDB:629939;GDB:629943;GDB:629946;GDB:629963;GDB:629977;GDB:629998;GDB:630007;GDB:630010;GDB:631496;GDB:631572;GDB:631575;GDB:631578;IDS__6440;L18426;PMC24149P4;PMC311008P2;RH47302;RH47309;RH67788;RH69756;RH78585;SHGC-132567;SHGC-36026;STS-M58342;STS-R15451 MPS2;SIDS OTTHUMP00000216437;OTTHUMP00000216438;OTTHUMP00000216439;alpha-L-iduronate sulfate sulfatase;iduronate 2-sulfatase 14 kDa chain;iduronate 2-sulfatase 42 kDa chain;idursulfase APPROVED protein-coding ENSG00000010404 HGNC:5389 02402 300823;309900 REVIEWED 1347874 IDSP1 iduronate 2-sulfatase pseudogene 1 X X q27.3-q28 148606539 148607956 + 149525000 149526417 + 7633410;7814022 3424 ABBA01049650;AC233288;AC244197;AF011889;L36846;NG_001149 1702672;1745649;2172413;2174667;2190863;5019723 A009K15;G32610;GDB:511278;GDB:629998;PMC311008P2;SHGC-36230 IDS2 pseudo HGNC:5390 INFERRED 1343257 IER2 immediate early response 2 FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3-dimethoxynaphthalene-1,4-dione 19 19 19 p13.2 13151680 13156120 + 13261282 13265722 + 13150468 13154908 + 737633;6480464 12477932 15489334;19156129;19322201;19584537;2061303;21693764;21906983;21963094;22120713;22505724;22797925 9592 Q9BTL4 ABBA01029753;AC011446;AMYH02035569;BC003625;BC072432;BC110647;BT019466;CH471106;CR450352;M62831;NM_004907 AAA35814;AAH03625;AAH72432;AAI10648;AAV38273;ABM83218;ABM86418;CAG29348;EAW84358;EAW84359;EAW84360;NP_004898;Q9BTL4 Hs.501629 1647409;1689897;1795130;2127018;2155478;2159270 G15850;PMC98754P2;RH68061;RH93572;STS-M62831;STS-W96019 ETR101;MGC111472;MGC15265 immediate early response gene 2 protein protein-coding ENSG00000160888 HGNC:28871 09997 VALIDATED 1322129 IDUA iduronidase, alpha-L- This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008] 4 4 4 p16.3 917731 935177 + 980785 998317 + 986997 1004557 + 1599894;1580863;6480464;7240710;8554872;8699517 1301196 10466419;10735634;10738517;11555618;11735025;11825626;11861306;12477932;12559846;12818523;1301941;1362562;1505961;15300847;1550122;15521993;15862278;16169070;16344560;16435195;17570076;1832239;18340403;1883197;19396826;1946389;19751987;19839758;20301341;21176924;21364962;21394825;21397026;21521498;21639919;2170400;21831683;2220820;22504420;23143250;23653226;23786846;23959878;24036510;24368159;24480078;2470345;4221470;6821579;7550232;7550242;7951228;8019563;8213840;8242073;8328452;8401515;8477267;8554071;8664897;8680403;9391892 3425 B3KWK6;D6R9D5;D6RBD5;D6REB5;H0Y9B3;H0Y9R9;P35475 AA114859;AB208901;ABBA01019349;ABBA01019350;AC019103;AK098805;AK125223;AK291816;AMYH02008564;BC029959;BC099922;CD367032;CH471131;DA057148;DA488352;M74715;M95740;NG_008103;NM_000203;NR_110313;XM_006713881;XM_006713882 AAA51698;AAA81589;AAH29959;BAD92138;BAF84505;BAG54168;EAW82616;EAW82617;EAW82618;EAW82619;EAW82620;EAW82621;EAW82622;EAW82623;EAW82624;EAW82625;EAW82626;EAW82627;NP_000194;P35475;XP_006713944;XP_006713945 Hs.89560 1659421;1677556;1679123;1684124;1690135;1715719;1742267;1742307;1743025;1743897;1743899;1743901;1743903;1796816;5015919;5015921;5095291;5120814;5120816;5120818;5120820;5120822;5120824;5120826 D4S111;GDB:194363;GDB:196305;GDB:249664;GDB:375196;GDB:375201;GDB:375204;GDB:375207;GDB:375210;GDB:375213;GDB:375216;GDB:375219;GDB:375222;GDB:375225;GDB:375228;GDB:375231;GDB:375234;IDUA_s18;RH119306;SHGC-59739;SHGC-67289;SHGC-67320;SHGC4-969;SLC26A1_1601 IDA;MPS1 OTTHUMP00000112666;OTTHUMP00000217309;alpha-L-iduronidase APPROVED protein-coding ENSG00000127415 HGNC:5391 02016 252800;607014;607015;607016 REVIEWED 1352833 IER3IP1 immediate early response 3 interacting protein 1 This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011] 18 18 18 q12 41531935 41553267 - 44681390 44702745 - 47155019 47176374 - 1580863;6480464;8699517;7240710;8554872 10931946;11042152;11230166;11256614;12477932;15276200;15489334;16341674;18029348;18476594;19322201;19885854;19946888;19951536;21139048;21835305;21890473;21900206;21906983;21963094;21987572;22939629;22991235;23000965;8889549 51124 Q9P171;Q9Y5U9 AA211693;ABBA01018616;ABBA01018617;AC051635;AC245012;AF119875;AF125100;AF164798;AF371963;AK027108;AL136667;BC010888;BC017391;BM829309;CH471096;CR533488;NG_031925;NM_016097 AAD39917;AAF69629;AAF80762;AAH10888;AAH17391;AAK53816;ABM83792;ABM87114;ACE86570;ACE87253;CAB66602;CAG38519;EAW62909;NP_057181;Q9Y5U9 Hs.130917 1651351;1777794;2145379;5093078 A009F19;G32506;RH15973;RH36100 HSPC039;MEDS;PRO2309 OTTHUMP00000163487;immediate early response 3-interacting protein 1 APPROVED protein-coding HGNC:18550 13727 609382;614231 REVIEWED 737469 IER5 immediate early response 5 This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [provided by RefSeq, Jul 2008] 1 1 1 q25.3 154164524 154166865 + 181057638 181059979 + 181088502 181090843 + 6480464 10049588;11102586;12477932;15489334;15498874;16710414;19156129;19238419;22132193;22797925;23277564;8889549 51278 Q5VY09 AA235294;ABBA01027785;AF178984;AF258581;AI696140;AJ251089;AL356267;AMYH02002256;BC000128;BC108253;CH471067;NM_016545 AAF44348;AAG23784;AAH00128;AAI08254;CAB91983;EAW91099;NP_057629;Q5VY09 Hs.15725 1671542;1848532 RH64630;SHGC-75988 MGC102760;SBBI48 OTTHUMP00000033133;immediate early response gene 5 protein APPROVED protein-coding HGNC:5393 06210 607177 VALIDATED 1347080 IER3 immediate early response 3 This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 32309116 32310467 - 30710976 30712327 - 30743199 30744550 - 1580863;6480464 10448082;11455449;11782530;11844788;11910304;12032839;12356731;12477932;12510147;12682234;12743274;12761504;15120418;15451437;15489334;15767410;15781630;15855159;16344560;16456541;16567805;16702430;16960879;16973576;17704804;18026799;18482256;18564103;19152102;19285955;19690192;19773435;19837266;19851445;20587610;20713914;20848476;20934684;21112119;21250941;21518511;21832049;21906983;22085302;23403649;23455636;23725081;24311782;8125298;8603392;8653710;9196025;9588170;9703517;9781666;9791001;9878538 8870 P46695;Q5ST79 AB088101;AB103607;AB202099;ABBA01038057;AF039067;AF071596;AF083421;AK222588;AK314162;AL662797;AL662848;AL845353;AMYH02013437;BA000025;BC000844;BC005080;BM915952;BT006703;BX248307;CH471081;CR936878;CT009501;DA893782;NM_003897;S81914;X96438;Y14551;Y16736 AAB36278;AAC32558;AAC33793;AAC72344;AAH00844;AAH05080;AAP35349;BAB63319;BAC54933;BAD96308;BAE78619;BAF31268;BAG36846;CAA65304;CAA74886;CAA76350;EAX03329;EAX03330;EAX03331;NP_003888;P46695 Hs.76095 1687970;1725707;1792036;1792600;1792602;1792604;1795132;1796042;2117342;2153669 G62116;IER3_130;PMC135646P5;PMC154982P1;PMC154982P2;PMC154982P3;PMC98754P3;RH78215;RH91431;STS-AA034911 DIF-2;DIF2;GLY96;IEX-1;IEX-1L;IEX1;PRG1 OTTHUMP00000029400;PACAP-responsive gene 1 protein;anti-death protein;differentiation-dependent gene 2 protein;expressed in pancreatic carcinoma;gly96, mouse, homolog of;immediate early protein GLY96;immediate early response 3 protein;immediately early gene X-1;radiation-inducible immediate-early gene IEX-1 APPROVED protein-coding ENSG00000137331 HGNC:5392 04295 602996 REVIEWED 1349464 IER5L immediate early response 5-like INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 9 9 9 q34.11 102590120 102592833 - 131937831 131940540 - 129175552 129178261 - 6480464 12477932;15146197;16341674;21963094;21987572;8889548 389792 Q5T953 ABBA01043920;ABBA01043921;AL158151;AMYH02021733;BC013070;BC064028;BM763373;BQ574938;BU676697;BX458317;CH471090;CN293040;NM_203434 AAH64028;EAW87886;NP_982258;Q5T953 Hs.529857 1698352;1819822;1829342;1829344;1831242;1836498;1840228;1841400;1841722;1841944;1842082;1930332;1930334;1930336;1930338;1930340;1930342;1930344;1930346;1930348;1930350;1930352;1930354;1930356;1930358;1930360;1930362;1930364;1930366;1930368;1930370;1930372;2208382;2208384 ECD10981;ECD15802;ECD15803;ECD16757;ECD19412;ECD21298;ECD21896;ECD22059;ECD22175;ECD22244;REN35995;REN35996;REN35997;REN35998;REN35999;REN36000;REN36001;REN36002;REN36003;REN36004;REN36005;REN36006;REN36007;REN36008;REN36009;REN36010;REN36011;REN36012;REN36013;REN36014;REN36015;RH102717;stSG628257;stSG628259 MGC70833;bA247A12.2 OTTHUMP00000022330;immediate early response gene 5-like protein protein-coding ENSG00000188483 HGNC:23679 17128 VALIDATED 1603680 IFFO1 intermediate filament family orphan 1 This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 12 12 12 p13.3 8265555 8282111 - 6648694 6665249 - 6539528 6556083 - 6480464;8554872 12477932;14702039;16189514;16344560;16713569;17207965;21139048;21890473;22505724;22797925;24255178;24722188;3052284;8771189 25900 B4DQQ1;E9PPX7;F8W8H2;Q0D2I5;Q6P593;Q9Y4M3 AA251428;ABBA01017643;ABBA01017644;AC006064;AF124432;AI423929;AI969315;AK000710;AK095106;AK298905;AL080214;AL548672;AMYH02025953;AW075280;BC001790;BC002857;BC004384;BC010431;BC023664;BC063004;BC071170;BC103817;BC103818;BC103819;BC110387;BC113848;BC114454;BM147696;BM922290;BX327856;BX648701;BX648743;CH471116;DA268043;DA744744;DA969856;NM_001039670;NM_001193457;NM_080730;NR_036467;XM_006718973;XM_006718974;XM_006718975;XM_006718976;XM_006718977;XM_006718978;XM_006718979;XM_006718980;XM_006718981;XM_006718982 AAH02857;AAH04384;AAH63004;AAH71170;AAI03818;AAI03819;AAI10388;AAI13849;AAI14455;ADQ32404;BAA91335;BAG52986;BAG61013;CAB45778;CAH56164;CAH56183;EAW88781;EAW88782;EAW88783;EAW88784;EAW88785;NP_001034759;NP_001180386;NP_542768;Q0D2I5;XP_006719036;XP_006719037;XP_006719038;XP_006719039;XP_006719040;XP_006719041;XP_006719042;XP_006719043;XP_006719044;XP_006719045 Hs.15243 1662621;1688330;1750387;2178046;2217670 NOL1_4026;RH93399;SHGC-112544;SHGC-64826;WI-15438 DKFZp586I2223;FLJ20703;HOM-TES-103;IFFO;MGC117359 HOM-TES-103 tumor antigen-like;OTTHUMP00000180568;OTTHUMP00000180569;OTTHUMP00000180570;OTTHUMP00000233401;OTTHUMP00000246301;intermediate filament-like MGC:2625;tumor antigen HOM-TES-103 APPROVED protein-coding ENSG00000010295 HGNC:24970 09988 610495 REVIEWED 2301100 IFFO2 intermediate filament family orphan 2 ENCODES a protein that exhibits structural molecule activity (inferred); FOUND IN intermediate filament (inferred); INTERACTS WITH (-)-demecolcine; formaldehyde; pirinixic acid 1 1 1 p36.13 17558090 17609830 - 19230774 19282826 - 18904280 18956332 - 6480464 12477932;14702039;20360068;21890473;21906983 126917 H0Y4W3;J3KNZ4;Q5TF58 ABBA01059749;AK024480;AL080251;AMYH02000416;AMYH02000417;BC063709;CH471134;KF495880;KF495881;NM_001136265 BAB15770;EAW94862;NP_001129737;Q5TF58 Hs.466625 1338574;1340437;1847477;2165472;2174390;7186972 D1S3604;D1S483;D1S552;D7S711;SHGC-74303 OTTHUMP00000002592;OTTHUMP00000002593 protein-coding ENSG00000169991 HGNC:27006 VALIDATED 1351661 IFI27 interferon, alpha-inducible protein 27 INVOLVED IN activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic signaling pathway; FOUND IN mitochondrion; INTERACTS WITH (-)-demecolcine; (S)-nicotine; 17beta-estradiol 14 14 14 q32 74630847 74636810 + 94577079 94583033 + 94110733 94116699 + 1580863;6480464 11076863;11230166;11256614;11375929;11722583;12477932;12539042;12878323;14702039;14719078;14728724;15014966;15063762;15342556;15489334;15489336;16341674;16381901;17166282;18329281;18330707;18361427;18814951;18953482;19558503;19817957;20237496;20663873;21447007;21503567;22309998;22320196;22427340;23383510;23959120;24999841;8358738;8889548;9837900 3429 A8K0H0;G3V4U3;P40305;Q7Z5R2 ABBA01030420;AI799552;AJ294851;AK095039;AK097084;AK289535;AK312089;AL079302;AL121838;AMYH02029779;AU103232;AY126456;AY126457;AY126458;BC015492;BF971643;BG483267;BM756566;BM841506;BM841596;BN000227;BP317624;BT006781;BU601451;BU688913;BU928223;BX647330;CB993374;CH471061;FB659850;KF573698;NM_001130080;NM_001288952;NM_001288954;NM_001288956;NM_001288957;NM_001288958;NM_001288959;NM_001288960;NM_001288995;NM_005532;X67325 AAH15492;AAM95743;AAM95744;AAM95745;AAP35427;ABM84742;BAF82224;BAG35025;CAA47739;CAC10503;CAE00394;CAL37985;CAL38654;CAS01779;EAW81556;EAW81557;EAW81558;NP_001123552;NP_001275881;NP_001275883;NP_001275885;NP_001275886;NP_001275887;NP_001275888;NP_001275889;NP_001275924;NP_005523;P40305 Hs.532634 5091942 SHGC-12357 FAM14D;ISG12;ISG12A;P27 2310061N23Rik;ISG12(a);OTTHUMP00000245779;OTTHUMP00000245780;OTTHUMP00000245782;OTTHUMP00000245783;interferon alpha-induced 11.5 kDa protein;interferon alpha-inducible protein 27;interferon alpha-inducible protein 27, mitochondrial;interferon-stimulated gene 12a protein protein-coding ENSG00000165949 HGNC:5397 02479 600009 VALIDATED 1344171 IFI16 interferon, gamma-inducible protein 16 This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011] 1 1 1 q22 132049946 132095211 + 158979682 159024945 + 158999973 159055155 + 1580863;6480464 11115400;11146555;11940648;12184920;12477932;12513910;12539042;12588705;12682910;12894224;12925527;14654789;14702039;14729471;14990579;1526658;15302935;15489334;15569046;15572361;15728246;16344560;16494870;16710414;16964243;17339605;17510972;17699163;17981541;17981542;17981573;17981596;18029348;18231640;18472023;18598717;18974396;19158679;19170058;19338980;19553003;19635103;19885868;19946888;20052289;20214740;20379614;20488664;20504932;20595294;20628624;20890285;21139048;21252943;21383967;21397192;21471287;21573174;21575908;21832049;21906983;21963094;22046441;22291595;22320325;22483801;22505724;22618232;22691496;22751105;22939635;23000965;23022380;23027953;23251661;23263863;23345332;23388709;23427152;23463506;23690979;23720728;24080302;24089555;24147044;24154727;24198334;24237704;24356113;24367117;24593816;24696486;24794504;24816145;24858640;24970844;7536752;7806273;7890747;7959953;8910340;9642285;9718316;9766636 3428 H3BM18;H3BR65;H3BR88;H3BVE6;Q16666;X6RHM1 AB208989;ABBA01016621;AF086545;AF208043;AK094968;AK296228;AK307957;AL359753;AMYH02002008;AMYH02002009;AY138863;BC017059;BM806453;BM993134;CH471121;DA945454;DA990524;DB273519;M63838;NG_029141;NM_001206567;NM_005531;S75415;S75433;XM_005245127;XM_006711290 AAA58683;AAB32519;AAF20997;AAH17059;AAM96005;ABM81988;ABM85168;BAC04462;BAD92226;BAG58950;EAW52797;EAW52798;EAW52799;EAW52800;EAW52801;EAW52802;EAW52803;NP_001193496;NP_005522;Q16666;XP_005245184;XP_006711353 Hs.380250 1646856;1653077;1705678;1722573;1853485;2121070;2140915;2145770;2182086;5015455 AL009415;AL009999;D1S1562;D1S3285;G60217;RH103;RH48430;SHGC-35795;SHGC-52731;SHGC-83418 IFNGIP1;MGC9466;PYHIN2;ifi-16 OTTHUMP00000035192;OTTHUMP00000035193;OTTHUMP00000035197;gamma-interferon-inducible protein 16;interferon-gamma induced protein IFI 16;interferon-inducible myeloid differentiation transcriptional activator APPROVED protein-coding ENSG00000163565 HGNC:5395 00969 147586 REVIEWED 1347783 IFI27L1 interferon, alpha-inducible protein 27-like 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH hydrogen peroxide; paracetamol; quercetin 14 14 14 q32.12 74601412 74622829 + 94547639 94569060 + 94081293 94102714 + 1580863;6480464 12477932;14728724;15014966;15489334;16344560;19260139;20237496;8889548 122509 G3V248;G3V2F0;G3V349;G3V3W3;G3V460;G3V4A1;G3V585;Q96BM0 ABBA01030421;AL079302;AMYH02029779;BC015423;BN000225;BU739372;CH471061;DA693965;NM_145249;NM_206949;XM_005267314;XM_006725161 AAH15423;ACT64524;ACT64525;ADZ15768;CAE00392;EAW81553;EAW81554;EAW81555;NP_660292;NP_996832;Q96BM0;XP_005267371;XP_006725224 Hs.19414 1650160;1651709;1740057;1776857 A008J36;D14S903;RH15710;WI-20999 FAM14B;ISG12C ISG12(c) protein;OTTHUMP00000245767;OTTHUMP00000245768;OTTHUMP00000245769;OTTHUMP00000245771;OTTHUMP00000245772;OTTHUMP00000245773;OTTHUMP00000245776;family with sequence similarity 14, member B;interferon alpha-inducible protein 27-like protein 1;interferon-stimulated gene 12c protein protein-coding ENSG00000165948 HGNC:19754 13292 611320 VALIDATED 1344421 IFI27L2 interferon, alpha-inducible protein 27-like 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 14 14 14 q32.12 74647895 74649734 - 94594118 94595957 - 94127781 94129620 - 1580863;6480464 12477932;14728724;15014966;15489334 83982 Q9H2X8 ABBA01030420;AF208232;AF238978;AL121838;AMYH02029779;BC022800;BC032626;BE737110;BN000226;CH471061;NM_032036 AAF65760;AAG35730;AAH22800;AAH32626;CAE00393;EAW81559;EAW81560;NP_114425;Q9H2X8 Hs.94695 FAM14A;ISG12B;MGC44913;TLH29 ISG12(b) protein;OTTHUMP00000245802;family with sequence similarity 14, member A;interferon alpha-inducible protein 27-like protein 2;interferon-stimulated gene 12b protein;pIFI27-like protein protein-coding ENSG00000119632 HGNC:19753 13291 611319 VALIDATED 1321848 IFI30 interferon, gamma-inducible protein 30 The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 18186321 18190669 + 18284590 18288934 + 18173780 18178124 + 1580863;6480464;6907045 10639150;1069150;10852914;11491538;12021307;12198183;12477932;16170;18029348;18343923;18410276;19240061;20668223;21701784;23246037;3136170 10437 M0QZG3;P13284 AB049659;ABBA01051249;AC007192;AC068499;AC093080;AF097362;AF401212;AI022513;AK123477;AK291551;AL558891;AMYH02035726;BC021136;BC031020;BE515053;CH471106;DQ884410;NM_006332 AAD22672;AAF04618;AAH21136;AAH31020;AAL02170;ABI63377;ABM82942;ABM86132;BAC98466;BAF84240;EAW84661;EAW84662;EAW84663;EAW84664;EAW84665;EAW84666;NP_006323;P13284 Hs.14623 1671738;1768321;5037552 D1S2103;D8S2279;SHGC-32638 GILT;IFI-30;IP30;MGC32056 gamma-interferon-inducible lysosomal thiol reductase;gamma-interferon-inducible protein IP-30;interferon gamma-inducible protein 30 preproprotein;legumaturain APPROVED protein-coding ENSG00000216490 HGNC:5398 05234 604664 REVIEWED 1312056 IFI35 interferon-induced protein 35 INVOLVED IN cytokine-mediated signaling pathway (inferred); type I interferon signaling pathway (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; 5-fluorouracil; all-trans-retinoic acid 17 17 17 q21 37815041 37822746 + 41158742 41166476 + 43006725 43014459 + 1580863;6480464 10779520;10950963;11911807;12477932;12539042;12665801;15489334;16341674;17197158;18305040;18624398;20628624;21139048;21906983;23226549;23455924;24371060;7753812;8288566;8938427;8954125 3430 P80217 AA740882;AA827287;AA832092;ABBA01006393;ABBA01006394;AC055866;AK025406;AMYH02033445;BC001356;BM050205;BM748764;BU571030;CH471152;L78833;NM_005533;U72882;XM_005257302 AAB61703;AAC37597;AAH01356;ABM83524;ABM86752;EAW60914;EAW60915;EAW60916;NP_005524;P80217;XP_005257359 Hs.632258 1647686;1733442;1733810;2109425;2138751;2145191;2172886 A002O37;D17S1224;D17S1328;G30666;HSC1IB122;IFI35_8415;STS-AA025690 FLJ21753;IFP 35;IFP35;ifi-35 OTTHUMP00000236626;OTTHUMP00000236627;interferon-induced 35 kDa protein protein-coding ENSG00000068079 HGNC:5399 02844 600735 VALIDATED 1350219 IFI4 interferon-induced protein 4 ASSOCIATED WITH Aicardi-Goutieres syndrome 6 (inferred); Dyschromatosis symmetrica hereditaria 1 (inferred) 7240710 3175763 3427 HGNC:5400 127400;615010 1321473 IFI44 interferon-induced protein 44 INVOLVED IN response to virus (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-demecolcine; (S)-nicotine; 17beta-estradiol 1 1 1 p31.1 77354992 77369278 + 79115477 79129763 + 78649792 78664078 + 1580863;6480464 12477932;12539042;15489334;16886895;17207965;17784819;18029348;18953482;19460752;20237496;21963094;21987572;22896602;23453885;7925411 10561 B7ZAG3;C9JUM8;H7C1F3;Q8TCB0 ABBA01074390;AC104837;AK302527;AK316278;AK316476;AMYH02001316;BC022870;CA426666;CH471059;D28915;DC300799;DN994910;NM_006417;XM_005270380;XR_246226;XR_426586 AAH22870;ADQ32248;BAA06043;BAG63800;BAH14649;BAH14847;EAX06347;EAX06348;NP_006408;Q8TCB0;XP_005270437 Hs.82316 1656199;2108789;2115581 IFI44_9140;RH69519;SHGC-75043 MTAP44;TLDC5;p44 OTTHUMP00000011293;TBC/LysM-associated domain containing 5;interferon-induced, hepatitis C-associated microtubular aggregate protein (44kD);microtubule-associated protein 44 protein-coding ENSG00000137965 HGNC:16938 09998 610468 VALIDATED 1352700 IFI44L interferon-induced protein 44-like INVOLVED IN defense response to virus (inferred); immune response (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-demecolcine; (S)-nicotine; 17beta-estradiol 1 1 1 p31.1 77325610 77351345 + 79086067 79111830 + 78620382 78646145 + 6480464 12477932;16344560;20237496;23453885;23867815;24280982;8125298 10964 B4E019;C9JPJ0;H7C1K6;Q53G44 AB000115;AB116553;ABBA01074390;AC104837;AK223087;AK225442;AK293385;AK303187;AK312272;AK316232;AL832618;AMYH02001316;AW015958;BC015932;CH471059;DA699730;NM_006820;XM_005270391;XM_005270392;XM_005270393;XM_006710303;XM_006710304 AAH15932;BAA19056;BAD96807;BAF51962;BAG35202;BAG56895;BAG64281;BAH14603;CAD90004;EAX06349;NP_006811;Q53G44;XP_005270448;XP_005270449;XP_005270450;XP_006710366;XP_006710367 Hs.744918 1675285;1767121;1788692;1849649;1852877;2159598 D1S3613;RH125614;RH18393;RH48344;RH68243;SHGC-75025 C1orf29;GS3686 OTTHUMP00000011296 protein-coding ENSG00000137959 HGNC:17817 13728 613975 VALIDATED 1342870 IFI6 interferon, alpha-inducible protein 6 This gene was first identified as one of the many genes induced by interferon. The encoded protein may play a critical role in the regulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating element resembling the mammalian splice donor consensus sequence begins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using the two downstream repeat units as splice donor sites have been described. [provided by RefSeq, Jul 2008] 1 1 1 p35 26388246 26394372 - 27992572 27998724 - 27666061 27672213 - 1580863;6480464 12477932;1303280;14728724;15489334;15502823;15685448;1695131;1713665;17823654;18029348;18838000;19322201;20237496;20377629;20628624;21832049;21996729;3017706;3359997;6548414;7596809 2537 P09912 ABBA01034985;AF430686;AJ426287;AK024814;AK314488;AL445490;AMYH02000604;AMYH02000605;BC011601;BC015603;BN000257;BT006850;CH471059;CQ834276;NM_002038;NM_022872;NM_022873;U22970;X02492 AAC50159;AAC50160;AAC50161;AAH11601;AAH15603;AAL26623;AAP35496;BAG37089;CAA26322;CAD19977;CAE12275;CAH05353;EAX07744;EAX07745;EAX07746;NP_002029;NP_075010;NP_075011;P09912 Hs.523847;Hs.730125 1683936;1792566;1793848;2217352 G1P3_2752;PMC154027P1;PMC299790P5;RH80818 6-16;FAM14C;G1P3;IFI-6-16;IFI616 OTTHUMP00000003605;OTTHUMP00000003606;OTTHUMP00000003607;interferon alpha-inducible protein 6;interferon, alpha-inducible protein clone IFI-6-16;interferon-induced protein 6-16 APPROVED protein-coding ENSG00000126709 HGNC:4054 00959 147572 REVIEWED 1347526 IFIH1 interferon induced with helicase C domain 1 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012] 2 2 2 q24 156733905 156785356 - 163123589 163175218 - 162267079 162318708 - 1580863;6480464;6907045;8699517;7240710;8554872 11002417;11805321;12015121;12477932;14645903;14676839;14702039;15489334;15563593;16116171;16127453;16177806;16575407;16699517;16782388;16797201;17079289;17267501;17442111;17535987;17541283;17554260;18026693;18029348;18071670;18285833;18684960;18927125;19016379;19073967;19154402;19156166;19164550;19211564;19264985;19324880;19380577;19403670;19430480;19450885;19531363;19539001;19565506;19615405;19620789;19656871;19742420;19797678;19838195;19841890;19846522;19881509;19890046;19913121;19951419;19961590;20033399;20116863;20203524;20434986;20467774;20538742;20595247;20628086;20644636;20647273;20668468;20694011;20719949;20736039;20739519;20844740;20953190;21052763;21071089;21113677;21123378;21156324;21187438;21224721;21245912;21270278;21289206;21342182;21496705;21705624;21829393;21832049;21844166;21903422;21906983;21910972;21978001;22046141;22053898;22110759;22152027;22160685;22185736;22192091;22301138;22461656;22561518;22590509;22623778;22705106;22732950;22789000;22797917;22864531;22886382;22892369;22908223;22915805;23090998;23108955;23128233;23144876;23152520;23246693;23273991;23284052;23390110;23390309;23399697;23436757;23441136;23499489;23535865;23650567;23671710;23684765;23734776;23926323;24039580;24117221;24366338;24386202;24390337;24402011;24493797;24522921;24686847;24829334;24995871 64135 Q53TP4;Q9BYX4 ABBA01004893;AC007750;AC010876;AF095844;AK056293;AK292941;AK314611;AMYH02005094;AY017378;BC007966;BC046208;BC078180;BC111750;BQ772836;BU902097;CH471058;NG_011495;NM_022168 AAG34368;AAG54076;AAH46208;AAH78180;AAI11751;AAX93137;AAY24206;BAB71141;BAF85630;EAX11352;NP_071451;Q9BYX4 Hs.163173 1674999 WI-17740 AGS7;Hlcd;IDDM19;MDA-5;MDA5;MGC133047;RLR-2 CADM-140 autoantigen;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide;OTTHUMP00000162935;RIG-I-like receptor 2;RNA helicase-DEAD box protein 116;clinically amyopathic dermatomyositis autoantigen 140 kDa;helicard;helicase with 2 CARD domains;interferon-induced helicase C domain-containing protein 1;interferon-induced with helicase C domain protein 1;melanoma differentiation associated protein-5;melanoma differentiation-associated protein 5;murabutide down-regulated protein APPROVED protein-coding ENSG00000115267 HGNC:18873 09507 606951;615846 REVIEWED 1344579 IFIT1B interferon-induced protein with tetratricopeptide repeats 1B PARTICIPATES IN hepatitis C virus infection pathway; INTERACTS WITH 1-chloro-2,4-dinitrobenzene (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 10 10 10 q23.31 84884634 84891783 + 91137813 91144962 + 89378056 89385205 + 6907045;6480464 12477932;21642987;3175763 439996 Q5T764 ABBA01021948;AL353751;AMYH02023510;BC137368;BC137369;BC150189;BX647300;CH471066;NM_001010987 AAI37369;AAI37370;AAI50190;EAW50139;NP_001010987;Q5T764 Hs.500491 2173491 WI-11615 DKFZp781M1841;IFIT1L;bA149I23.6 OTTHUMP00000020061;interferon-induced protein with tetratricopeptide repeats 1-like protein APPROVED protein-coding ENSG00000204010 HGNC:23442 17129 VALIDATED 1342851 IFIT1P1 interferon-induced protein with tetratricopeptide repeats 1 pseudogene 1 13 13 13 q13.1 14025624 14026336 + 32958739 32960779 + 32384602 32386642 + 10978293;3175763 8373 ABBA01010137;AF196987;AL445212;AMYH02027823;NG_001215;NG_012772 G13P1;IFI56P;IFIT1P;II56P APPROVED pseudo HGNC:5408 INFERRED 1312562 IFIT1 interferon-induced protein with tetratricopeptide repeats 1 This gene encodes a protein containing tetratricopeptide repeats that was originally identified as induced upon treatment with interferon. The encoded protein may inhibit viral replication and translational initiation. This gene is located in a cluster on chromosome 10 with five other closely related genes. There is a pseudogene for this gene on chromosome 13. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012] 10 10 10 q23.31 84899140 84910558 + 91152303 91166244 + 89392546 89406487 + 1580863;6480464;6907045 10644362;10662616;10950979;11118224;11152506;12477932;12708317;12777642;1377167;14702039;15489334;16009940;16189514;16344560;16385451;16449650;16973618;17804510;17969451;19008854;19244243;19416887;20628624;20926571;20950130;21129252;21612406;21642987;21976647;22647704;23052390;23334420;23363937;23529855;23684765;23785202;24098121;24654937;3121313;3175763;3360121;3585080;3753936;6186990;9826176 3434 P09914 ABBA01021948;AK092813;AK308688;AK314588;AL353146;AL548182;AL711085;AMYH02023510;BC007091;BI670242;BT006667;BU625391;CA306581;CD106320;CH471066;DA822484;DB003897;DB180094;DB474377;NM_001270927;NM_001270928;NM_001270929;NM_001270930;NM_001548;X03557;X06559 AAH07091;AAP35313;ABM84460;ABM84681;BAG37163;BAG52612;CAA27244;CAA29802;EAW50136;EAW50137;EAW50138;NP_001257856;NP_001257857;NP_001257858;NP_001257859;NP_001539;P09914 Hs.20315 1675429;1719853;1742233;1792020;2115741;2116035;2219828 G15877;GDB:193862;IFIT1__6442;PMC135632P1;RH123621;RH17956;RH77911 C56;G10P1;GARG-16;IFI-56;IFI-56K;IFI56;IFIT-1;IFNAI1;ISG56;P56;RNM561 Interferon, alpha-inducible protein (MW 56kD);OTTHUMP00000020062;interferon-induced 56 kDa protein;interferon-induced protein 56;interferon-inducible mRNA 561 APPROVED protein-coding ENSG00000185745 HGNC:5407 00983 147690 REVIEWED 1317209 IFIT2 interferon-induced protein with tetratricopeptide repeats 2 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN negative regulation of protein binding; positive regulation of apoptotic process; response to virus; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; endoplasmic reticulum; INTERACTS WITH (-)-demecolcine; 1-chloro-2,4-dinitrobenzene; 17beta-estradiol 10 10 10 q23.31 84808536 84815863 + 91061706 91069033 + 89301949 89309276 + 1580863;6480464;8554872 12477932;12708317;1377167;16009940;16189514;16344560;16385451;16973618;17030862;17081983;18029348;18819931;19416887;20506645;21163940;21190939;21642987;22065572;22647704;22825553;22939629;22986528;2454816;3119591;3175763;3360121;3466167;8889549;9391139 3433 P09913;Q05DN2 AA143609;AA765174;ABBA01021948;AK300431;AK312831;AL353751;AMYH02023510;BC005987;BC032839;CH471066;DA631671;EB387611;M14659;M14660;NM_001547;X07557 AAA59191;AAH05987;AAH32839;BAG62157;CAA30438;EAW50145;NP_001538;P09913 Hs.437609 1654644;1721537;1742235;1793840;2133414;2146395;2150612 G59773;GDB:193863;PMC299790P1;RH46192;RH48237;RH69073;SGC38130 G10P2;GARG-39;IFI-54;IFI-54K;IFI54;IFIT-2;ISG-54 K;ISG-54K;ISG54;P54;cig42 Interferon, alpha-inducible protein (MW 54kD);OTTHUMP00000020058;interferon-induced 54 kDa protein;interferon-induced protein 54 protein-coding ENSG00000119922 HGNC:5409 00913 147040 VALIDATED 1348146 IFIT5 interferon-induced protein with tetratricopeptide repeats 5 ENCODES a protein that exhibits poly(A) RNA binding; RNA binding; single-stranded RNA binding; INVOLVED IN defense response to virus; ASSOCIATED WITH Melanoma (inferred); FOUND IN actin cytoskeleton; apical part of cell; ruffle membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 10 10 10 q23.31 84921138 84927568 + 91174031 91180759 + 89414568 89421002 + 1580863;6480464;8554872 12477932;15489334;16009940;16169070;16385451;19322201;19615732;21139048;21163940;21642987;23317505;23334420;23602568;23774268;24250222;24311583;24654937;24778252;9398535 24138 Q13325 ABBA01021948;AK293346;AK312358;AL353146;AMYH02023510;BC025786;CH471066;CR457031;DC392439;NM_012420;U34605 AAA84934;AAH25786;BAG35276;BAG56862;CAG33312;EAW50135;NP_036552;Q13325 Hs.252839 1774105;2171307;2176362;2219830 A004R39;HSC1RH042;IFIT5__6444;WI-17128 FLJ53857;FLJ92678;IFIT-5;P58;RI58 OTTHUMP00000020063;interferon-induced 58 kDa protein;retinoic acid- and interferon-inducible 58 kDa protein;retinoic acid- and interferon-inducible protein (58kD) protein-coding ENSG00000152778 HGNC:13328 17130 VALIDATED 1353716 IFIT3 interferon-induced protein with tetratricopeptide repeats 3 ENCODES a protein that exhibits identical protein binding; INVOLVED IN negative regulation of apoptotic process; negative regulation of cell proliferation; response to virus; FOUND IN cytoplasm; mitochondrion; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 10 10 10 q24 84834434 84847556 + 91087602 91100725 + 89327845 89340968 + 1580863;6480464 12477932;12539042;14499622;15489334;16009940;16189514;16341674;16344560;16385451;16449650;16964243;17050680;17933493;18706081;19351818;20137113;20403236;20533260;20686046;21056555;21163940;21642987;21813773;22490698;22647704;23333304;23415865;24223959;9207104;9391139;9828129 3437 O14879;Q5T765 ABBA01021948;AF026939;AF083470;AK290427;AK297137;AK312675;AL353751;AMYH02023510;BC001383;BC004977;BM790031;BT007284;BU509201;BX101054;CH471066;DA081546;DA160435;DA673951;DB268497;NM_001031683;NM_001289758;NM_001289759;NM_001549;U52513 AAB40606;AAB95160;AAC63524;AAH01383;AAH04977;AAP35948;ADZ15493;BAF83116;BAG59639;EAW50143;EAW50144;NP_001026853;NP_001276687;NP_001276688;NP_001540;O14879 Hs.47338;Hs.744072 1793840;2114781;2121750;2163044;5014051;5015619;5037552 D11S3114;D8S2278;D8S2279;PMC299790P1;SGC38164;STS-T92735;WI-18437 CIG-49;CIG49;GARG-49;IFI-60K;IFI60;IFIT-3;IFIT-4;IFIT4;IRG2;ISG-60;ISG60;P60;RIG-G OTTHUMP00000020059;OTTHUMP00000020060;interferon-induced 60 kDa protein;interferon-induced protein with tetratricopeptide repeats 4;retinoic acid-induced gene G protein protein-coding ENSG00000119917 HGNC:5411 05228 604650 VALIDATED 1316889 IFITM1 interferon induced transmembrane protein 1 ENCODES a protein that exhibits receptor signaling protein activity (inferred); INVOLVED IN negative regulation of cell migration; negative regulation of cell proliferation; negative regulation of viral entry into host cell; PARTICIPATES IN B cell receptor signaling pathway; FOUND IN membrane; INTERACTS WITH 1-nitropyrene; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 11 11 11 p15.5 244174 245455 - 313991 315272 + 313991 315272 + 1580863;6480464;6907045 12477932;12926988;1383329;14667819;15489334;15661263;15808405;18202764;18781797;18829488;19304549;19499152;19946888;20064371;20099975;20220060;20331378;20428811;20628624;20838853;20972266;21177806;21253575;21890473;21906983;21963094;21976647;22363774;22505724;22609115;22634173;22787204;22996292;23376165;23720721;23898208;2398277;24076421;24120510;24603679;2492664;3935435;6548414;7559564 8519 AAB25699;P13164 ABBA01011170;AC136475;AK290480;AMYH02024129;BC000897;BT007173;CH471278;J04164;NM_003641;X84958 AAA35494;AAB25699;AAH00897;AAP35837;ABM82020;ABM85202;BAF83169;CAA59337;EAW61218;EAW61219;NP_003632;P13164 Hs.458414 1792570;1793844;1793846;2153944;2164694 A004R14;PMC154027P3;PMC299790P3;PMC299790P4;RH36343 9-27;CD225;DSPA2a;IFI17;LEU13 OTTHUMP00000229445;dispanin subfamily A member 2a;interferon-induced protein 17;interferon-induced transmembrane protein 1;interferon-inducible protein 9-27;leu-13 antigen APPROVED protein-coding ENSG00000185885 HGNC:5412 05122 604456 VALIDATED 5132175 IFITM10 interferon induced transmembrane protein 10 FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH copper atom; copper(0); cefaloridine (ortholog) 11 11 11 p15.5 1794149 1807467 - 1753640 1771824 - 1732410 1750594 - 6480464 12477932;14702039;16344560;16554811;22363774;8889548 402778 A6NMD0;H0Y3H0 ABBA01012157;ABBA01012158;AC068580;AC130310;AK022293;AK289574;AMYH02024177;AMYH02024178;BC036199;BM728073;BQ183689;BQ669640;BQ672240;BU169250;DB219779;NM_001170820 A6NMD0;BAF82263;NP_001164291 Hs.121575 1800858;1802866;1803196;1803650;1803880;1819916;1821394;1822722;1825906;1826168;1826598;1826784;1828144;1830482;1833066;1840258;1841498;1842800;1980656;1980658;1980660;1980662;1980664;1980666;1980668;1980670;1980672;1980674;1980676;1980678;1980680;1980682;1980686;1980688;1980690;1980692;1980694;1980696;1980698;1980700;1980702;1980704;1980706;1980708;1980710;1980712;1980714;1980716;1980718;1980720;1980722;1980724;1980726;1980728;1980730;1980732;1980734;1980736;1980738;1980740;1980742;1980744;1980746;1980748;1980750;1980752;1980754;1980756;1980758;1980760;1980762;1980764;1980766;1980768;1980770;1980772;1980774;1980776;1980778;1980780;1980782;1980784;2216344 ECD01294;ECD02321;ECD02490;ECD02731;ECD02853;ECD11029;ECD11781;ECD12449;ECD14062;ECD14194;ECD14413;ECD14507;ECD15195;ECD16376;ECD17675;ECD21313;ECD21946;ECD22607;REN61221;REN61222;REN61223;REN61224;REN61225;REN61226;REN61227;REN61228;REN61229;REN61230;REN61231;REN61232;REN61233;REN61234;REN61236;REN61237;REN61238;REN61239;REN61240;REN61241;REN61242;REN61243;REN61244;REN61245;REN61247;REN61248;REN61249;REN61250;REN61251;REN61252;REN61253;REN61254;REN61255;REN61256;REN61257;REN61258;REN61259;REN61260;REN61261;REN61262;REN61263;REN61264;REN61265;REN61266;REN61267;REN61268;REN61269;REN61270;REN61271;REN61272;REN61273;REN61274;REN61275;REN61276;REN61277;REN61278;REN61279;REN61280;REN61281;REN61282;REN61283;REN61284;REN61285;REN61286;stSG548450 DSPA3;FLJ12231;FLJ76511 CD225 family protein FLJ76511;OTTHUMP00000040804;dispanin subfamily A member 3;hypothetical protein LOC402778;interferon-induced transmembrane protein 10 protein-coding ENSG00000244242 HGNC:40022 VALIDATED 3476341 IFIT6P interferon-induced protein with tetratricopeptide repeats 6, pseudogene 10 10 10 q23.31 84868893 84870046 + 91122072 91123225 + 89362315 89363468 + 100128465 ABBA01021948;AL353751;AMYH02023510;NG_022187 1654644;1721537;1742235;1793840;1998738;2110985;2114781;2121750;2133414;2135592;2146395;2146709;2150612;2159662;2163044 A009W43;D10S474E;G01522;G01532;G59773;GDB:193863;PMC299790P1;REN70281;RH46192;RH48237;RH69073;SGC38130;SGC38164;STS-T92735;WI-18437 pseudo HGNC:38020 INFERRED 1352409 IFITM2 interferon induced transmembrane protein 2 INVOLVED IN negative regulation of viral entry into host cell; negative regulation of viral genome replication; response to interferon-alpha; FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; aflatoxin B1 11 11 11 p15.5 250035 251338 - 308095 309410 + 308107 309410 + 1580863;6480464 12477932;15231747;15489334;16169070;1906403;19544527;20534863;20628624;20972266;21139048;21177806;21319273;21890473;21906983;21963094;21987572;22363774;23376165;23720721;24076421;24992036;3935435;6548414 10581 E9PQN9;H0YCL2;H7BYV1;Q01629 ABBA01011170;AC136475;AMYH02024129;BC009696;BG164993;BG257141;BT009859;CH471278;CR456894;CR541874;CS300517;NM_006435;X02490;X57351 AAH09696;AAP88861;ABM82593;ABM85541;CAA26321;CAA40625;CAG33175;CAG46672;CAK32181;EAW61220;EAW61221;NP_006426;Q01629 Hs.709321 1657070;5021588 RH17821;SGC31615 1-8D;DSPA2c OTTHUMP00000229443;dispanin subfamily A member 2c;interferon-induced transmembrane protein 2;interferon-inducible protein 1-8D APPROVED protein-coding ENSG00000185201 HGNC:5413 05718 605578 VALIDATED 1602166 IFITM4P interferon induced transmembrane protein 4 pseudogene INTERACTS WITH 5-fluorouracil 6 6 6 p22.1 31322017 31322358 - 29718584 29718925 - 29750807 29751148 - 6480464 16344560;23237964 340198 ABBA01038036;AL022723;AL645939;AL669813;AL844851;AMYH02013419;BX005428;BX927182;CR759769;CR788234;DB311150;NR_001590 Hs.450189 2125910 D6S2268 dJ377H14.5 pseudo ENSG00000235821 HGNC:21669 PROVISIONAL 1343642 IFITM3 interferon induced transmembrane protein 3 The protein encoded by this gene is an interferon-induced membrane protein that helps confer immunity to influenza A H1N1 virus, West Nile virus, and dengue virus. Two transcript variants, only one of them protein-coding, have been found for this gene. Another variant encoding an N-terminally truncated isoform has been reported, but the full-length nature of this variant has not been determined. [provided by RefSeq, May 2012] 11 11 11 p15.5 1309 2550 + 319673 320914 - 319673 320914 - 1580863;6480464 10950117;11076863;11256614;12477932;15489334;15489336;16326387;16344560;16381901;18029348;18177740;18470904;18486613;1906403;19901966;19946179;20534863;20972266;21103663;21139048;21177806;21413873;21531817;21890473;21906983;21914072;21963094;22363774;22446628;22511783;23055554;23361009;23376165;23601107;23624618;23649619;23658454;23720721;23864651;23874452;23997235;24076421;24129573;24367104;24370119 10410 E9PS44;Q01628;R4GNG9 ABBA01011172;AC136475;AI355192;AK292173;AMYH02024129;BC006794;BC008417;BC022439;BC070243;BQ937265;BT006892;CH891444;DB261103;JQ610571;JQ610572;JQ610573;JQ610574;JQ610575;JQ610576;JQ610577;JQ610578;JQ610579;JQ610580;JQ610581;JQ610582;JQ610583;JQ610585;JQ610586;JQ610587;JQ610588;JQ610589;JQ610590;JQ610591;JQ610592;JQ610593;JQ610594;JQ610595;JQ610596;JQ610597;JQ610598;JQ610599;JQ610600;JQ610601;JQ610602;JQ610603;JQ610604;JQ610605;JQ610606;JQ610607;JQ610608;JQ610609;JQ610610;JQ610611;JQ610613;JQ610614;JQ610615;JQ610616;JQ610617;JQ610618;JQ610620;JQ610621;NG_032755;NM_021034;NR_049759;X57352 AAH06794;AAH08417;AAH22439;AAH70243;AAP35538;ABM82024;ABM85206;AFF60305;AFF60306;AFF60307;AFF60308;AFF60309;AFF60310;AFF60311;AFF60312;AFF60313;AFF60314;AFF60315;AFF60316;AFF60317;AFF60319;AFF60320;AFF60321;AFF60322;AFF60323;AFF60324;AFF60325;AFF60326;AFF60327;AFF60328;AFF60329;AFF60330;AFF60331;AFF60332;AFF60333;AFF60334;AFF60335;AFF60336;AFF60337;AFF60338;AFF60339;AFF60340;AFF60341;AFF60342;AFF60343;AFF60344;AFF60345;AFF60347;AFF60348;AFF60349;AFF60350;AFF60351;AFF60352;AFF60354;AFF60355;BAF84862;CAA40626;CAL37601;CAL38570;EAW50866;NP_066362;Q01628 Hs.374650 1792024;5021588 PMC135632P3;SGC31615 1-8U;DSPA2b;IP15 OTTHUMP00000230137;dispanin subfamily A member 2b;interferon-induced transmembrane protein 3;interferon-inducible protein 1-8U APPROVED protein-coding ENSG00000142089 HGNC:5414 05719 605579;614680 REVIEWED 1606092 IFITM5 interferon induced transmembrane protein 5 This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012] 11 11 11 p15.5 259924 261247 + 298200 299526 - 298200 299526 - 6480464;7240710;8699517;8554872 11106657;12477932;12659663;18442316;21166591;22363774;22863190;22863195;23166625;23240094;23408678;23804581;23813632;24293101 387733 A6NNB3 AA460254;ABBA01011169;AC136475;AMYH02024129;BC150562;BC150563;BQ574249;CH471278;CR747200;NG_032892;NM_001025295 A6NNB3;AAI50563;AAI50564;AAI56101;AAI56993;EAW61222;NP_001020466 Hs.443469 1678999;2189351 MARC_2547-2548:991932804:1;RH92933 BRIL;DSPA1;Hrmp1;OI5;fragilis4 OTTHUMP00000229441;bone-restricted ifitm-like protein;bone-restricted interferon induced transmembrane protein-like protein;bone-restricted interferon-induced transmembrane protein-like protein;dispanin subfamily A member 1;interferon-induced transmembrane protein 5 APPROVED protein-coding ENSG00000206013 HGNC:16644 610967;614757 REVIEWED 2289755 IFITM9P interferon induced transmembrane protein 9 pseudogene 11 11 11 q13.3 66413816 66414271 - 69070818 69071273 - 69303351 69303806 - 22747683 390218 ABBA01013429;AMYH02025033;AP005232;NG_006210 pseudo HGNC:33972 INFERRED 1345385 IFN1@ interferon, type 1, cluster 3438 HGNC:5415 1604413 IFITM8P interferon induced transmembrane protein 8 pseudogene 8 8 8 q12.3 60312083 60312481 + 64321623 64322021 + 63409065 63409463 + 15869325 613204 ABBA01041841;AC011124;AMYH02018078;DQ031534;NG_005307 pseudo HGNC:32202 INFERRED 1354356 IFNA1 interferon, alpha 1 The protein encoded by this gene is produced by macrophages and has antiviral activity. This gene is intronless and the encoded protein is secreted. [provided by RefSeq, Sep 2011] 9 9 9 p22 21378753 21379628 + 21440453 21441315 + 21440454 21441316 + 1580863;6480464;6907045 11032395;11315919;11744801;11986939;11991671;12070711;12089333;12091360;12097384;12162875;12242445;12323007;12393722;12410802;12435568;12477932;12530117;12538683;12543882;12581491;12620797;12682235;12749388;12759354;12761564;12804771;12817009;12967644;1381203;1385305;14500632;14734746;15056668;15087447;15164053;15188363;15233997;15240148;15481145;15489334;15571260;15585849;15621727;15634924;15674657;15699120;15790787;15795269;15883164;15941912;15989801;16005433;16160188;16175599;16253303;16278001;16375755;16418394;16426578;16785534;16797201;16859998;16948893;1708818;17180012;17360657;17517919;17572490;17597478;17703412;17785816;17911607;17933493;17956986;17968925;17968926;18005734;18050196;18071879;18184042;18200009;18200012;18218993;18272764;18283629;18311820;18318750;18405996;18414664;1849076;18576315;18606657;18633131;18672082;18708672;18771758;18926293;19000144;19004943;19050236;1905933;19095736;19124763;19158240;19203249;19258923;19339987;19401392;19434718;19559726;19651532;19657094;19706714;19754307;19796531;19796549;19817985;19857525;19913121;20018632;20065083;20096141;20112359;2014240;20149251;20164424;20174557;20182777;20237496;20299058;20303780;20331378;20465564;20473322;20503287;20506305;20554782;20565368;20574843;20588103;20588308;20592282;20628086;20628092;20810735;20817881;20857263;20860222;20875078;20959405;20964804;20980519;21120500;21177291;21213104;21263073;21268015;21276246;21317915;21320124;21339641;21361792;21376046;21525212;21645334;21705624;21772053;21821707;21918813;21923413;22149411;22156987;22192711;22195005;22222875;22226324;22242767;22249201;22264514;22315404;22396599;22661095;22684144;22685561;22693567;22706089;22739040;22814248;22925929;23026954;23042723;23047923;23100517;23224365;23237992;23255800;23303061;23382558;23434493;23462180;23479228;23566196;23649622;23724117;23751822;23814052;23890815;23910645;24024201;24027750;24049170;24063997;24073214;24269682;24286516;24334027;24348680;24709112;24865418;24973447;2552026;2985969;3262520;4057246;6157095;6157600;6159536;6163083;6310510;6479148;7511078;7526537;7532202;7583919;7815507;7904170;7913356;7932753;8345204;8438572;8454630;8661419;8668211;8764000;9108403;9181467;9225992;9271440;9343822;9425112;9520456;9658081;9865497 3439 L0N195;P01562 AB445100;AB578886;ABBA01065176;AF439447;AL353732;AMYH02019286;BC074928;BC074929;BC112002;BC112300;BC112302;CH471071;CQ847555;DQ185447;E00175;GM863573;J00210;M29884;NM_024013;V00537;V00538 AAA52714;AAB59403;AAH74928;AAH74929;AAI12003;AAI12301;AAI12303;AAL35223;ABA03167;ADR83489;BAI99735;BAM72353;CAA23798;CAA23799;CAH18030;CAT16481;EAW58609;NP_076918;P01562 Hs.37026 1796046;1856849;2179256;5492611;5492737;5493341;5493685 IFNA13_1293;SGC35616;STS-J00210;UniSTS:481774;UniSTS:482161;UniSTS:485784;UniSTS:490313 IFL;IFN;IFN-ALPHA;IFN-alpha 1b;IFN-alpha-1/13;IFN-alphaD;IFNA13;IFNA@;MGC138207;MGC138505;MGC138507;leIF D OTTHUMP00000021142;interferon alpha 1b;interferon alpha-1/13;interferon alpha-D;interferon-alpha1 APPROVED protein-coding ENSG00000197919 HGNC:5417 00974 147660 REVIEWED 1348367 IFNA10 interferon, alpha 10 This gene encodes a protein that belongs to the type I interferon family of proteins, and is located in a cluster of alpha interferon genes on chromosome 9. Interferons are small regulatory molecules that function in cell signaling in response to viruses and other pathogens or tumor cells. This gene is intronless and the encoded protein is secreted. [provided by RefSeq, Aug 2013] 9 9 9 p22 21144478 21145440 - 21206180 21207142 - 21206181 21207143 - 1580863;6480464;6907045 11197304;11694501;12089333;12477932;1381203;1385305;15481145;15489334;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;20331378;20574843;20588308;20722470;22315404;22739040;22814248;23100517;23255800;24030809;2526839;2552026;4057246;6163083;6181262;6397400;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8605876;8661419;8668211;8764000;9108403;9181467;9225992;9343822;9425112;9520456;9658081;9865497 3446 P01566 ABBA01065178;AL512606;AMYH02019283;BC069409;BC103972;BC103973;CH471071;M10200;NM_002171;V00531;V00551;X02961 AAH69409;AAI03973;AAI03974;CAA23812;EAW58619;NP_002162;P01566 Hs.282275 1653483;1741627;1796044;5015553;5020397;5095927;5492433;5493023 GDB:181595;IFNA10_134;RH47035;RH69109;RH70715;SGC35314;UniSTS:481033;UniSTS:483835 IFN-alpha-10;IFN-alphaC;MGC119878;MGC119879;leIF C OTTHUMP00000021134;interferon alpha-10;interferon alpha-6L;interferon alpha-C protein-coding ENSG00000186803 HGNC:5418 00963 147577 REVIEWED 1353177 IFNA11P interferon, alpha 11, pseudogene 9 9 p21.3 21398613 21399138 - 21398614 21399139 - 4057246 3461 ABBA01065176;AL353732;AMYH02019285;NG_027866 IFNP11 APPROVED pseudo HGNC:5442 INFERRED 1343819 IFNA12P interferon, alpha 12, pseudogene 9 9 9 p21.3 21341558 21341867 + 21403245 21403554 + 21403246 21403555 + 15233997;4057246 158011 ABBA01065176;AL353732;AMYH02019285;NG_004681 IFNP12;IFNWP12 APPROVED pseudo HGNC:5443 INFERRED 1348999 IFNA14 interferon, alpha 14 ENCODES a protein that exhibits cytokine receptor binding (inferred); INVOLVED IN blood coagulation (inferred); cytokine-mediated signaling pathway (inferred); defense response to virus (inferred); PARTICIPATES IN autoimmune thyroid disease pathway; autophagy pathway; hepatitis C virus infection pathway; FOUND IN extracellular region (inferred); INTERACTS WITH 8'-apo-beta,psi-caroten-8'-al; beta-carotene; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 9 9 9 p22 21177506 21178283 - 21239201 21239978 - 21239202 21239979 - 1580863;6480464;6907045 11694501;12089333;12477932;1371992;1381203;1385305;15481145;15489334;1602151;16160188;16278001;16375755;16418394;1708818;17180012;17360657;17703412;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19258923;19559726;19706714;20096141;2014240;20331378;20503287;20574843;20588308;22315404;22739040;22814248;23100517;23255800;2552026;4057246;6163083;6165082;7510216;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8668211;8764000;8910771;9108403;9181467;9225992;9343822;9425112;9520456;9658081;9865497 3448 P01570 ABBA01065178;AL162420;AMYH02019283;BC074956;BC104159;BC104160;CH471071;NM_002172;V00533;V00542;X02959 AAH74956;AAI04160;AAI04161;CAA23794;CAA23803;CAA26705;EAW58616;NP_002163;P01570 Hs.93907 1796048;2121031;5015553;5492739 IFNA14_136;RH70715;SHGC-35275;UniSTS:482165 IFN-alpha-14;IFN-alphaH;LEIF2H;MGC125756;MGC125757;leIF H OTTHUMP00000021139;interferon alpha-14;interferon alpha-H;interferon lambda-2-H protein-coding HGNC:5420 00965 147579 VALIDATED 1352734 IFNA13 interferon, alpha 13 INVOLVED IN blood coagulation (inferred); cytokine-mediated signaling pathway (inferred); defense response to virus (inferred); PARTICIPATES IN autoimmune thyroid disease pathway; autophagy pathway; hepatitis C virus infection pathway; FOUND IN extracellular region (inferred); INTERACTS WITH cadmium atom; 2,2',5,5'-tetrachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 p22 21305683 21306388 - 21367371 21368075 - 21367372 21368076 - 1580863;6907045;6480464 11032395;11694501;12089333;12477932;1371992;1381203;1385305;15164053;15233997;15481145;15489334;16160188;16278001;16375755;16418394;1708818;17180012;17207965;17360657;17703412;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19258923;19559726;19706714;20096141;2014240;20237496;20503287;20588308;22315404;22739040;22814248;23100517;23255800;2552026;2985969;4057246;6157095;6157600;6159536;6163083;6310510;6479148;7510216;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8668211;8764000;9108403;9181467;9225992;9343822;9425112;9520456;9658081;9865497 3447 E9PB07;P01562 ABBA01065176;AL353732;AMYH02019285;BC069427;BC093988;CH471071;NM_006900;X00803;X75934 AAH69427;AAH93988;ADQ32903;CAA25381;CAA53538;EAW58612;NP_008831;P01562 Hs.533471 1796046;2179256;5492611;5493341;5493685 IFNA13_1293;SGC35616;UniSTS:481774;UniSTS:485784;UniSTS:490313 IFN-alpha-1/13;IFNA1;leIF D OTTHUMP00000021144;interferon alpha-1/13;interferon alpha-D protein-coding ENSG00000233816 HGNC:5419 00964 147578 VALIDATED 1352583 IFNA16 interferon, alpha 16 INVOLVED IN blood coagulation (inferred); cytokine-mediated signaling pathway (inferred); defense response to virus (inferred); PARTICIPATES IN autoimmune thyroid disease pathway; autophagy pathway; hepatitis C virus infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 8'-apo-beta,psi-caroten-8'-al; beta-carotene; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 9 9 9 p22 21154677 21155615 - 21216372 21217310 - 21216373 21217311 - 1580863;6480464;6907045;8554872 11694501;12089333;1371992;1381203;1385305;15481145;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;2014240;20574843;20588308;21832049;22315404;22739040;22814248;23100517;23255800;2552026;4057246;6387705;6397400;6548765;7510216;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8764000;9108403;9181467;9225992;9343822;9520456;9658081;9865497 3449 P05015;Q9UMJ2 ABBA01065178;AL512606;AMYH02019283;CH471071;K02055;M10201;M28585;NM_002173;X00140;X02957 AAA36042;AAA52727;AAA52732;AAI40291;AAI46501;CAA24970;CAA26703;EAW58618;NP_002164;P05015 Hs.56303 1796050;2178982;5494037 IFNA16_138;SHGC-35277;UniSTS:480792 IFN-alphaO IFN-alpha-16;IFN-alpha-N-protein;OTTHUMP00000021137;interferon alpha-16;interferon alpha-WA protein-coding ENSG00000147885 HGNC:5421 00966 147580 PROVISIONAL 1354164 IFNA17 interferon, alpha 17 INVOLVED IN blood coagulation (inferred); cytokine-mediated signaling pathway (inferred); defense response to virus (inferred); PARTICIPATES IN autoimmune thyroid disease pathway; autophagy pathway; hepatitis C virus infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 8'-apo-beta,psi-caroten-8'-al; beta-carotene; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 9 9 9 p22 21165547 21166526 - 21227242 21228221 - 21227243 21228222 - 1580863;6480464;6907045;8554872 11694501;12089333;12477932;12490311;1371992;1381203;1385305;15004750;15481145;16160188;16278001;1634550;16375755;16418394;1708818;17180012;17360657;17956450;18005734;18200009;18200012;18272764;18414664;18539711;18672082;19004943;1905933;19559726;19706714;20096141;2014240;20331378;20574843;20588308;20722470;22315404;22739040;22814248;23100517;23255800;2552026;3767336;3891272;4008999;6165082;6397400;7510216;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8668211;8764000;9108403;9181467;9225992;9343822;9425112;9520456;9658081;9712362;9865497 3451 P01571 ABBA01065178;AL162420;AMYH02019283;BC096732;BC098355;CH471071;HH960122;M11026;M38289;M71246;NM_021268;V00532 AAA52713;AAA52725;AAA59165;AAH96732;AAH98355;CAA23793;CBX51305;EAW58617;NP_067091;P01571 Hs.282276 1741627;5015553;5020397;5095927 GDB:181595;RH69109;RH70715;SGC35314 IFN-alpha-17;IFN-alphaI;IFNA;INFA;LEIF2C1;leIF I OTTHUMP00000021140;interferon alpha-17;interferon alpha-88;interferon alpha-I';interferon alpha-T;interferon alpha-WA protein-coding ENSG00000234829 HGNC:5422 00967 147583 VALIDATED 1352704 IFNA20P interferon, alpha 20, pseudogene 9 9 p21.3 21321299 21321826 + 21321300 21321827 + 3463 ABBA01065177;AL162420;AMYH02019285;NG_027867 FLJ13568;IFNP20 APPROVED pseudo HGNC:5444 INFERRED 1350795 IFNA2 interferon, alpha 2 This gene is a member of the alpha interferon gene cluster on chromosome 9. The encoded protein is a cytokine produced in response to viral infection. Use of the recombinant form of this protein has been shown to be effective in reducing the symptoms and duration of the common cold. [provided by RefSeq, Jun 2011] 9 9 9 p22 21322568 21323710 - 21384254 21385396 - 21384255 21385397 - 1580863;6480464;6907045 10339405;10477584;11694501;11888273;12010658;12089333;12477932;1381203;1385305;15004750;15233997;15481145;16160188;16171819;16278001;16375755;16418394;16697656;16920161;1708818;17116765;17180012;17181634;17360657;17477817;17703412;17880940;18005734;18027911;18032529;18200009;18200012;18272764;1834641;18414664;18584346;18672082;18729739;18937499;19000144;19004943;19055755;1905933;19153447;19258923;19345260;19559726;19564411;19574459;19621225;19706714;19790049;2014240;20159042;20237496;20309637;20331378;2049076;20503287;20532927;20574843;20588308;21057730;21115688;21223583;21411783;21466707;21757613;21854986;22204827;22315404;22332739;22482409;22570109;22571879;22610275;22610944;22685550;22731491;22739040;22814248;22885264;22951153;23055569;23100517;23184955;23213068;23255800;23437155;23913484;24089560;24269682;24636575;24709112;25049393;2552026;3906813;6158094;6159537;6159538;6162107;6163083;6164056;6170983;6310510;7511078;7526537;7532202;7583919;7627809;7759950;7815507;7904170;7913356;8234245;8345204;8366289;8438572;8661419;8668211;8764000;8994971;9108403;9181467;9225992;9343822;9417943;9425112;9520456;9658081;9694076;9865497 3440 P01563 ABBA01065176;AL353732;AMYH02019285;AY255838;AY532915;BC074936;BC074937;BC104163;BC104164;CH471071;CR541921;FB652838;J00207;JN591568;JN591569;JN591570;JN848522;M28028;M29883;M54886;NG_029154;NM_000605;S64979;S64991;S64994;V00544;V00548;V00549;Y11834 AAA36119;AAA52715;AAA59181;AAB59402;AAD13960;AAD13961;AAD13962;AAH74936;AAH74937;AAI04164;AAI04165;AAP20099;AAS92248;AET86951;AEX60802;AEX60803;AEX60804;CAA23805;CAA23809;CAA23810;CAA72532;CAG46719;CAR97164;EAW58611;NP_000596;P01563 Hs.211575 1645657;1657650;5492561;5492747;5493609 SHGC-35327;STS-J00207;UniSTS:481663;UniSTS:482177;UniSTS:489668 IFN-alpha-2;IFN-alphaA;IFNA;IFNA2B;INFA2;MGC125764;MGC125765;leIF A OTTHUMP00000021143;alpha-2a interferon;interferon alpha 2a;interferon alpha 2b;interferon alpha A;interferon alpha-2;interferon alpha-A APPROVED protein-coding ENSG00000188379 HGNC:5423 00950 147562 REVIEWED 1344688 IFNA21 interferon, alpha 21 This gene is a member of the alpha interferon gene cluster on the short arm of chromosome 9. Interferons are cytokines produced in response to viral infection that mediate the immune response and interfere with viral replication. The encoded protein is a type I interferon and may play a specific role in the antiviral response to rubella virus. [provided by RefSeq, Sep 2011] 9 9 9 p22 21103926 21104949 - 21165636 21166659 - 21165637 21166660 - 1580863;6480464;6907045;8554872 11694501;12089333;12477932;1381203;1385305;15481145;15489334;15953390;16160188;16278001;16375755;16418394;1708818;17180012;17360657;17854033;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;20237496;20331378;20574843;20588308;20677014;21757613;22315404;22739040;22814248;23100517;23255800;2552026;6163083;6548765;7510216;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8668211;8764000;8910771;9027905;9108403;9181467;9225992;9343822;9425112;9520456;9658081;9865497 3452 P01568 ABBA01065178;AL390882;AMYH02019282;BC069329;BC069372;BC069408;BC096699;BC101638;BC101640;CH471071;M12350;M28586;NG_030029;NM_002175;V00540;X00145 AAA36041;AAA52718;AAH69329;AAH69372;AAH69408;AAH96699;AAI01639;AAI01641;CAA23801;CAA24980;EAW58623;NP_002166;P01568 Hs.113211 1796052;5106884;5492545;5493353 IFNA21_1257;SHGC-35276;UniSTS:481597;UniSTS:485812 IFN-alpha-21;IFN-alphaI;LeIF F;MGC126687;MGC126689;leIF-F OTTHUMP00000021132;interferon alpha-21;interferon alpha-F;leukocyte interferon protein APPROVED protein-coding ENSG00000137080 HGNC:5424 00968 147584 REVIEWED 1344393 IFNA22P interferon, alpha 22, pseudogene 9 9 9 p22 21216231 21216965 - 21277687 21278562 - 21277688 21278563 - 1385305;6163083;8001965 3453 ABBA01065177;AL162420;AMYH02019285;NR_036676;V00539 Hs.545842;Hs.742632 IFNAP22 APPROVED pseudo HGNC:5431 VALIDATED 1314896 IFNA4 interferon, alpha 4 INVOLVED IN blood coagulation (inferred); cytokine-mediated signaling pathway (inferred); defense response to virus (inferred); PARTICIPATES IN autoimmune thyroid disease pathway; autophagy pathway; hepatitis C virus infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH cobalt dichloride; triclosan; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 9 9 9 p22 21124915 21125896 - 21186617 21187598 - 21186618 21187599 - 1580863;6480464;6907045;8554872 11694501;12089333;12477932;1381203;1385305;15163721;15164053;15481145;15489334;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;20237496;20588308;22315404;22739040;22814248;23100517;23255800;2552026;3891272;4057246;6089830;7510216;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8668211;8764000;9108403;9181467;9225992;9335434;9343822;9425112;9520456;9658081;9865497 3441 P05014 ABBA01065178;AL512606;AMYH02019283;BC074965;BC074966;BC113640;BC113642;CH471071;CS054853;M27318;NM_021068;X02955 AAA52726;AAH74965;AAH74966;AAI13641;AAI13643;ADR82856;ADR83497;CAA26701;CAI75147;EAW58621;NP_066546;P05014 Hs.1510 1653483;1796044;5020397;5095927;5493415 IFNA10_134;RH47035;RH69109;SGC35314;UniSTS:486143 IFN-alpha4a;INFA4;MGC142200 IFN-alpha-4;OTTHUMP00000021135;interferon alpha-4;interferon alpha-4B;interferon alpha-76;interferon alpha-M1 protein-coding ENSG00000236637 HGNC:5425 00952 147564 VALIDATED 1352508 IFNA5 interferon, alpha 5 ENCODES a protein that exhibits cytokine receptor binding (inferred); INVOLVED IN blood coagulation (inferred); cytokine-mediated signaling pathway (inferred); defense response to virus (inferred); PARTICIPATES IN autoimmune thyroid disease pathway; autophagy pathway; hepatitis C virus infection pathway; FOUND IN extracellular region (inferred); INTERACTS WITH 8'-apo-beta,psi-caroten-8'-al; beta-carotene; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 9 9 9 p22 21242926 21243625 - 21304613 21305312 - 21304614 21305313 - 1580863;6480464;6907045 10395669;11694501;12089333;12477932;1381203;1385305;15164053;15340161;15481145;15489334;16160188;16278001;16375755;16418394;1708818;17180012;17360657;17703412;18005734;18200009;18200012;18272764;18414664;18672082;18953482;19000144;19004943;1905933;19258923;19559726;19706714;20096141;2014240;20237496;20331378;20503287;20574843;20588308;21832049;22315404;22739040;22814248;23100517;23255800;2552026;4057246;6163083;7510216;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8668211;8764000;9108403;9181467;9225992;9343822;9520456;9658081 3442 P01569 ABBA01065177;AL162420;AMYH02019285;BC093755;BC093757;CH471071;NM_002169;V00541;X02956 AAH93755;AAH93757;CAA23802;CAA26702;EAW58615;NP_002160;P01569 Hs.37113 1645484;1683329;5492543;5492921 RH79924;SHGC-35639;UniSTS:481592;UniSTS:483231 IFN-alpha-5;IFN-alphaG;INA5;INFA5;leIF G OTTHUMP00000021138;interferon alpha-5;interferon alpha-61;interferon alpha-G protein-coding HGNC:5426 00953 147565 VALIDATED 1347304 IFNA7 interferon, alpha 7 INVOLVED IN blood coagulation (inferred); cell-cell signaling (inferred); cytokine-mediated signaling pathway (inferred); PARTICIPATES IN autoimmune thyroid disease pathway; autophagy pathway; hepatitis C virus infection pathway; FOUND IN extracellular region (inferred); INTERACTS WITH sarin; 2,2',5,5'-tetrachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 p22 21139766 21140502 - 21201468 21202204 - 21201469 21202205 - 1580863;6907045;6480464 11694501;12089333;12477932;1381203;1385305;15481145;15489334;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;2014240;20237496;20331378;22315404;22739040;22814248;23100517;23255800;2552026;2995168;4057246;6181262;7510216;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8668211;8764000;8910771;9108403;9181467;9225992;9343822;9425112;9520456;9658081;9865497 3444 P01567 ABBA01065178;AL512606;AMYH02019283;BC074991;BC074992;BC113994;BC114000;CH471071;M34913;NM_021057;V00531;X02960 AAA36039;AAH74991;AAH74992;AAI13995;AAI14001;CAA23792;CAA26706;EAW58620;NP_066401;P01567 Hs.282274 1741581;1796050;1797726;2121031;5492709;5493939 GDB:181544;IFNA16_138;IFNA7_1866;SHGC-35275;UniSTS:480472;UniSTS:482105 IFN-alphaJ;IFNA-J;leIF J IFN-alpha 7;IFN-alpha-7;IFN-alpha-J1;OTTHUMP00000021136;interferon alpha-7;interferon alpha-J;interferon alpha-J1 protein-coding ENSG00000214042 HGNC:5428 08857 147567 VALIDATED 1350617 IFNA6 interferon, alpha 6 INVOLVED IN blood coagulation (inferred); cytokine-mediated signaling pathway (inferred); defense response to virus (inferred); PARTICIPATES IN autoimmune thyroid disease pathway; autophagy pathway; hepatitis C virus infection pathway; FOUND IN extracellular region (inferred); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2-acetamidofluorene (ortholog) 9 9 9 p22 21288629 21289198 - 21350317 21350886 - 21350318 21350887 - 1580863;6480464;6907045 11694501;12089333;12477932;1381203;1385305;15233997;15340161;15481145;15489334;16160188;16278001;16375755;16418394;1708818;17180012;17360657;17703412;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19258923;19559726;19706714;20096141;2014240;20237496;20331378;20503287;20574843;20588308;22315404;22739040;22814248;23100517;23255800;2552026;4057246;7510216;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8668211;8764000;9108403;9181467;9225992;9343822;9425112;9520456;9658081;9865497 3443 P05013 ABBA01065177;AL353732;AMYH02019285;BC069471;BC096697;BC096710;BC096730;BC098357;CH471071;NM_021002;X02958 AAH69471;AAH96697;AAH96710;AAH96730;AAH98357;CAA26704;EAW58613;NP_066282;P05013 Hs.533470 1677236;5492437 RH79925;UniSTS:481054 IFN-alpha-6;IFN-alphaK;leIF K OTTHUMP00000021145;interferon alpha-54;interferon alpha-6;interferon alpha-K protein-coding ENSG00000120235 HGNC:5427 00954 147566 VALIDATED 1345453 IFNA8 interferon, alpha 8 ENCODES a protein that exhibits cytokine receptor binding (inferred); INVOLVED IN blood coagulation (inferred); cytokine-mediated signaling pathway (inferred); defense response to virus (inferred); PARTICIPATES IN autoimmune thyroid disease pathway; autophagy pathway; hepatitis C virus infection pathway; FOUND IN extracellular region (inferred); INTERACTS WITH mercury atom; mercury(0); 2,2',5,5'-tetrachlorobiphenyl (ortholog) 9 9 9 p22 21347459 21348497 + 21409146 21410184 + 21409147 21410185 + 1580863;6480464;6907045 11694501;12089333;12477932;1381203;1385305;15233997;15481145;16160188;16278001;16375755;16418394;1708818;17180012;17360657;17517919;17703412;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19258923;19559726;19706714;20096141;2014240;20237496;20331378;20503287;20574843;20588308;21832049;22315404;22570109;22739040;22814248;23100517;23255800;24030809;2552026;4057246;6163083;6164048;6325303;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8668211;8764000;8836918;8969169;9108403;9181467;9225992;9343822;9425112;9520456;9658081;9865497 3445 P32881 ABBA01065176;AL353732;AMYH02019285;BC104828;BC104830;CH471071;K01900;NM_002170;V00545;V00550;X03125 AAA52716;AAI04829;AAI04831;CAA23806;CAA23811;CAA26903;EAW58610;NP_002161;P32881 Hs.73890 1656859;1796054;5492915 D9S1712;IFNA8_140;UniSTS:483232 IFN-alpha-8;IFN-alphaB;leIF B OTTHUMP00000021146;interferon alpha type 201;interferon alpha-8;interferon alpha-B;interferon alpha-B';interferon alpha-B2 protein-coding ENSG00000120242 HGNC:5429 00955 147568 VALIDATED 1313408 IFNAR1 interferon (alpha, beta and omega) receptor 1 The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The encoded protein also functions as an antiviral factor. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 19887300 19922214 + 34696748 34732129 + 33324443 33359823 + 1580863;5147491;5490275;5490273;5490272;5490274;6480464;6907045;8554872 18566423;19487810;19603548;21383977;21756311 10490982;10542297;10830953;11167825;11301323;11694501;11786546;12220192;12477932;12554654;12618863;12620806;12697242;12761564;1350660;1370833;14532120;14647450;14727154;15063762;15337770;15356134;15389589;15449939;15489334;15589821;15885318;15946680;15990456;16171819;16338279;16624932;17001036;17027223;17125879;17310065;17517919;17667505;17703412;17823081;17923090;18056411;18166147;18250407;18338947;1834641;18362156;18474601;18535656;18761606;18801736;18937499;18953482;19103527;19124753;19220955;19258923;19299650;19434718;19453261;19501422;19559055;19561067;19730683;19773451;19796549;19805514;19817957;19879773;19913121;19948722;19957332;20020050;20065083;20237496;20331378;20378664;20503287;20565290;20588308;20628086;20811626;21139048;21173164;2148760;2153461;21540188;21690295;21695243;21716316;21757742;21821707;21830897;21832278;21865166;22036215;22136495;22156349;22162633;22218495;22258259;22786773;22824466;23128233;23129613;23201923;23209811;23663046;24250222;24334027;24704786;7526154;7559568;7665574;7932753;8125298;8181059;8524272;8605876;8626489;9029147;9121453;9174595;9225992;9403695;9677371;9733772 3454 C9J114;P17181 ABBA01057338;AF039907;AK123813;AK222770;AK222812;AK298051;AK312631;AMYH02037735;AP000296;AP000297;AP000298;AY654286;BC002590;BC014338;BC021825;BC035603;BC065751;BG116121;BG548299;BX537636;CA309858;CH471079;J03171;KF510545;NM_000629;R15745;X60459;XM_005260964 AAA52730;AAH02590;AAH21825;AAT49100;ABM82249;ABM85433;BAD96490;BAD96532;BAG35516;BAG60345;CAA42992;EAX09837;EAX09838;EAX09839;NP_000620;P17181;XP_005261021 Hs.529400 1647824;1671213;1673056;1674357;1677260;1741731;1741763;1741765;1806454;1807688;1807888;1808946;1813010;1813080;1817380;1819314;1821590;1821852;1824180;1824256;1824874;1826684;1827308;1827310;1827468;1827720;1827722;1833122;1834208;1835692;1835994;1836912;1838468;1838966;1840442;1840522;1845842;1851426;2027580;2027582;2027584;2027586;2027588;2027590;2027592;2027594;2027596;2027598;2027600;2027602;2027604;2027606;2027608;2027610;2027612;2027614;2027616;2027618;2027620;2027622;2027624;2027626;2027628;2027630;2027632;2027634;2027636;2027638;2027640;2027642;2027644;2027646;2027648;2027650;2027652;2027654;2027656;2027658;2027660;2027662;2027664;2027666;2027668;2027670;2027672;2027674;2027676;2027678;2027680;2027682;2027684;2027686;2027688;2027690;2027692;2027694;2027696;2027698;2027700;2027702;2027704;2027706;2027708;2027710;2027712;2027714;2027716;2027718;2027720;2027722;2027724;2027726;2027728;2027730;2027732;2027734;2027736;2027738;2027740;2027742;2027744;2027746;2027748;2027750;2027752;2027754;2027756;2027758;2027760;2027762;2027764;2027766;2027768;2027770;2027772;2027774;2027776;2027778;2027780;2027782;2027784;2027786;2027788;2027790;2027792;2027794;2027796;2027798;2027800;2027802;2027804;2027806;2027808;2027810;2027812;2027814;2027816;2027818;2027820;2027822;2027824;2027826;2027828;2027830;2027832;2027834;2027836;2027838;2027840;2027842;2027844;2027846;2027848;2027850;2027852;2027854;2027856;2027858;2027860;2027862;2027864;2027866;2027868;2027870;2101070;2101072;2101074;2101076;2101078;2101080;2101082;2101084;2101086;2101088;2101090;2101092;2101094;2101096;2101098;2101100;2101102;2101104;2101106;2101108;2101110;2101112;2101114;2101116;2101118;2111934;2121575;2141287;2163366;2185698;2218552;5022322;5037552;5109281;5120437 D11S2560;D1S1425;D20S588E;D21S1827;D21S2039;D8S2279;ECD04183;ECD04816;ECD04919;ECD05456;ECD07519;ECD07559;ECD09740;ECD10724;ECD11881;ECD12012;ECD13186;ECD13225;ECD13536;ECD14456;ECD14769;ECD14770;ECD14850;ECD14982;ECD14983;ECD17703;ECD18252;ECD19003;ECD19158;ECD19620;ECD20408;ECD20662;ECD21407;ECD21448;ECD24140;G34659;GDB:182417;GDB:185153;GDB:185155;GDB:315881;IFNAR1_4106;REN84794;REN84795;REN84796;REN84797;REN84798;REN84799;REN84800;REN84801;REN84802;REN84803;REN84804;REN84805;REN84806;REN84807;REN84808;REN84809;REN84810;REN84811;REN84812;REN84813;REN84814;REN84815;REN84816;REN84817;REN84818;REN84819;REN84820;REN84821;REN84822;REN84823;REN84824;REN84825;REN84826;REN84827;REN84828;REN84829;REN84830;REN84831;REN84832;REN84833;REN84834;REN84835;REN84836;REN84837;REN84838;REN84839;REN84840;REN84841;REN84842;REN84843;REN84844;REN84845;REN84846;REN84847;REN84848;REN84849;REN84850;REN84851;REN84852;REN84853;REN84854;REN84855;REN84856;REN84857;REN84858;REN84859;REN84860;REN84861;REN84862;REN84863;REN84864;REN84865;REN84866;REN84867;REN84868;REN84869;REN84870;REN84871;REN84872;REN84873;REN84874;REN84875;REN84876;REN84877;REN84878;REN84879;REN84880;REN84881;REN84882;REN84883;REN84884;REN84885;REN84886;REN84887;REN84888;REN84889;REN84890;REN84891;REN84892;REN84893;REN84894;REN84895;REN84896;REN84897;REN84898;REN84899;REN84900;REN84901;REN84902;REN84903;REN84904;REN84905;REN84906;REN84907;REN84908;REN84909;REN84910;REN84911;REN84912;REN84913;REN84914;REN84915;REN84916;REN84917;REN84918;REN84919;REN84920;REN84921;REN84922;REN84923;REN84924;REN84925;REN84926;REN84927;REN84928;REN84929;REN84930;REN84931;REN84932;REN84933;REN84934;REN84935;REN84936;REN84937;REN84938;REN84939;RH18397;SHGC-19221;SHGC-35315;SHGC-52130;SHGC-5963;SHGC-87597;STS-J03171;stSG607080;stSG607081;stSG607082;stSG607083;stSG607085;stSG607086;stSG607087;stSG607088;stSG607089;stSG607090;stSG607091;stSG607092;stSG607093;stSG607094;stSG607095;stSG607096;stSG607097;stSG607098;stSG607099;stSG607100;stSG607101;stSG607102;stSG607103;stSG607104;stSG607105 AVP;CRF2-1;IFN-R-1;IFN-alpha-REC;IFNBR;IFRC IFN-alpha/beta receptor 1;IFNAR;OTTHUMP00000067672;alpha-type antiviral protein;beta-type antiviral protein;cytokine receptor class-II member 1;cytokine receptor family 2 member 1;interferon alpha/beta receptor 1;interferon-alpha/beta receptor alpha chain;interferon-beta receptor 1;type I interferon receptor 1 APPROVED protein-coding ENSG00000142166 HGNC:5432 00126 107450 REVIEWED 1346107 IFNAR2 interferon (alpha, beta and omega) receptor 2 The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 19788236 19822836 + 34602231 34636831 + 33229895 33264513 + 1580863;6480464;6907045;7240710;8554872 10339405;10395669;10830953;11046044;11301323;11694501;11786546;11888273;12105218;12133952;12218119;12220192;12477932;12618863;12842042;12960323;14647450;14980076;15063762;15286706;15287740;15389589;15449939;15717316;15885318;16000408;16054712;16106266;16518956;16624932;16710296;17095088;17517919;17567994;17572016;17667505;17697365;17703412;17923090;18027911;18338947;18456457;18456658;18676680;18715339;18801736;18971450;19170196;19258923;19299650;19362011;19401692;19434718;19453261;19505916;19625176;19667218;19692168;19714778;19773279;19773451;19796549;19817957;19913121;20065083;20087947;20237496;20331378;20453000;20485444;20503287;20588308;20628086;20811626;21690295;21988832;22236545;22632162;23128233;23663046;23745570;7570186;7588638;7665574;7759950;8181059;8798579;8889548;8969169;9121453 3455 C9JCU0;C9JM33;C9K067;F8WDE1;H7C176;P48551;Q9BUA0 ABBA01057334;ABBA01057335;ABBA01057336;AK293059;AMYH02037733;AMYH02037734;AMYH02037735;AP000292;AP000293;AP000294;AP000295;AY740397;BC002793;BC013156;BG715143;BI520056;BM677386;CD110317;CH471079;CR541817;HG380509;HY104613;KF457225;L41942;L41943;L41944;L42237;L42238;L42239;L42240;L42241;L42242;L42243;NG_016003;NM_000874;NM_001289125;NM_001289126;NM_001289128;NM_207584;NM_207585;U29584;X77722;X89772;X89814 AAB46413;AAB46414;AAB46415;AAB46417;AAB46418;AAB46419;AAC50202;AAH02793;AAU21038;ABM83941;ABM87259;BAF85748;CAA54785;CAA61914;CAA61940;CAG46616;CDG37809;EAX09842;EAX09843;EAX09844;EAX09845;EAX09846;NP_000865;NP_001276054;NP_001276055;NP_001276057;NP_997467;NP_997468;P48551 Hs.708195 1334721;1668738;1734330;1754305;1778357;1778975;1778977;1804554;1805100;1807748;1814130;1816204;1817660;1817796;1820120;1821588;1821850;1824632;1824710;1825122;1825124;1826682;1827870;1833190;1833864;1834110;1835356;1835426;1835690;1837556;1838360;1838522;1839088;1839302;1841076;1841918;1842976;1843034;1846150;2026784;2026786;2026788;2026790;2026792;2026794;2026796;2026798;2026800;2026802;2026804;2026806;2026808;2026810;2026812;2026814;2026816;2026818;2026820;2026822;2026824;2026826;2026828;2026830;2026832;2026834;2026836;2026838;2026840;2026842;2026844;2026846;2026848;2026850;2026852;2026854;2026856;2026858;2026860;2026862;2026864;2026866;2026868;2026870;2026872;2026874;2026876;2026878;2026880;2026882;2026884;2026886;2026888;2026890;2026892;2026894;2026896;2026898;2026900;2026902;2026904;2026906;2026908;2026910;2026912;2026914;2026916;2026918;2026920;2026922;2026924;2026926;2026928;2026930;2026932;2026934;2026936;2026938;2026940;2026942;2026944;2026946;2026948;2026950;2026952;2026954;2026956;2026958;2026960;2026962;2026964;2026966;2026968;2026970;2026972;2026974;2026976;2026978;2026980;2026982;2026984;2026986;2026988;2026990;2026992;2026994;2026996;2026998;2027000;2027002;2027004;2027006;2027008;2027010;2027012;2027014;2027016;2027018;2027020;2027022;2027024;2027026;2027028;2027030;2027032;2027034;2027036;2027038;2027040;2027042;2027044;2027046;2027048;2027050;2027052;2027054;2027056;2027058;2027060;2027062;2027064;2027066;2027068;2027070;2027072;2027074;2027076;2027078;2027080;2027082;2027084;2027086;2027088;2027090;2027092;2100954;2100956;2100958;2100960;2100962;2100964;2100966;2100968;2100970;2100972;2100974;2100976;2100978;2100980;2100982;2100984;2100986;2100988;2100990;2100992;2100994;2100996;2100998;2130950;2153897;2170044;2183971;5037552 A006D32;D21S1684;D21S1898;D8S2279;ECD03206;ECD03492;ECD04847;ECD08094;ECD09142;ECD09882;ECD09952;ECD11133;ECD11880;ECD12011;ECD13414;ECD13453;ECD13662;ECD13663;ECD14455;ECD15058;ECD17737;ECD18078;ECD18203;ECD18833;ECD18868;ECD19002;ECD19945;ECD20354;ECD20435;ECD20723;ECD20831;ECD21731;ECD22161;ECD22696;ECD22725;ECD24295;G20728;G34802;REN84393;REN84394;REN84395;REN84396;REN84397;REN84398;REN84399;REN84400;REN84401;REN84402;REN84403;REN84404;REN84405;REN84406;REN84407;REN84408;REN84409;REN84410;REN84411;REN84412;REN84413;REN84414;REN84415;REN84416;REN84417;REN84418;REN84419;REN84420;REN84421;REN84422;REN84423;REN84424;REN84425;REN84426;REN84427;REN84428;REN84429;REN84430;REN84431;REN84432;REN84433;REN84434;REN84435;REN84436;REN84437;REN84438;REN84439;REN84440;REN84441;REN84442;REN84444;REN84445;REN84446;REN84447;REN84448;REN84449;REN84450;REN84451;REN84452;REN84453;REN84454;REN84455;REN84456;REN84457;REN84458;REN84459;REN84460;REN84461;REN84462;REN84463;REN84464;REN84465;REN84466;REN84467;REN84468;REN84469;REN84470;REN84471;REN84472;REN84473;REN84474;REN84475;REN84476;REN84477;REN84478;REN84479;REN84480;REN84481;REN84482;REN84483;REN84484;REN84485;REN84486;REN84487;REN84488;REN84489;REN84490;REN84491;REN84492;REN84493;REN84494;REN84495;REN84496;REN84497;REN84498;REN84499;REN84500;REN84501;REN84502;REN84503;REN84504;REN84505;REN84506;REN84507;REN84508;REN84509;REN84510;REN84511;REN84512;REN84513;REN84514;REN84515;REN84516;REN84517;REN84518;REN84519;REN84520;REN84521;REN84522;REN84523;REN84524;REN84525;REN84526;REN84527;REN84528;REN84529;REN84530;REN84531;REN84532;REN84533;REN84534;REN84535;REN84536;REN84537;REN84538;REN84539;REN84540;REN84541;REN84542;REN84543;REN84544;REN84545;REN84546;REN84547;REN84548;RH18027;SHGC-132328;SHGC-52139;SHGC-87558;SHGC-87595;STS-L42240;stSG607010;stSG607012;stSG607013;stSG607015;stSG607016;stSG607017;stSG607018;stSG607021;stSG607022;stSG607023;stSG607024;stSG607025;stSG607027;stSG607029;stSG607030;stSG607031;stSG607032;stSG607033;stSG607034;stSG607035;stSG607036;stSG607038;stSG607039 IFN-R;IFN-R-2;IFN-alpha-REC IFN-alpha binding protein;IFN-alpha/beta receptor 2;IFNABR;IFNARB;OTTHUMP00000067673;OTTHUMP00000067674;OTTHUMP00000067675;OTTHUMP00000067676;OTTHUMP00000206687;human interferon alpha/beta receptor;interferon alpha binding protein;interferon alpha/beta receptor 2;interferon-alpha/beta receptor beta chain;type I interferon receptor 2 APPROVED protein-coding ENSG00000159110 HGNC:5433 03850 602376;610424 REVIEWED 1346018 IFNB3 interferon, beta 3, fibroblast 12009575;1440058;6304727 3457 K03196 protein-coding HGNC:5436 736615 IFNB1 interferon, beta 1, fibroblast ENCODES a protein that exhibits cytokine activity; INVOLVED IN B cell activation involved in immune response; cellular response to interferon-beta; negative regulation of T cell differentiation; PARTICIPATES IN hepatitis C virus infection pathway; Jak-Stat signaling pathway; measles infection pathway; FOUND IN extracellular region (inferred); INTERACTS WITH 2-aminopurine; 5-aza-2'-deoxycytidine; 5-fluorouracil 9 9 9 p21 21015373 21016212 - 21077104 21077943 - 21077105 21077944 - 1580863;6480464;6907045 10229237;10395669;10482360;10640778;10918594;10963806;11337497;11694501;11781186;11972054;11987821;12050353;12068083;12089333;12096926;12097388;12120696;12184914;12405292;12477932;12581491;12761564;12847277;12932356;14519761;14519765;14727154;14747551;15004750;15107417;15163707;15163721;15280450;15340234;15481145;15489334;15557158;15621727;15652402;15737993;15752772;15767399;16002711;16185826;16338279;16375755;16504056;16504464;16505900;16545883;16593086;16631220;16697656;16873258;16951313;16954376;16984921;16989575;17079289;1708818;17142768;17167270;17182689;17215277;17328045;17548221;17560375;17574024;17652396;17675303;17968925;17968926;17985330;18035482;18209079;18272195;18322185;1834641;18370868;18381783;18382694;18389079;18420941;18437017;18571728;18581327;18611945;18614013;18614628;18641315;18653385;18653650;18708672;18715339;18771559;18781139;18823997;18989459;19008854;19017631;19017982;19017994;19056675;19201909;19240061;19351494;19353519;19380831;19416887;19449179;19453261;19546225;19564073;19564411;19622906;19667093;19728309;19758707;19795416;19804729;19833099;19846511;19898481;19913121;19934272;20007272;20048166;20127681;20154210;20174559;20181693;20187765;20237496;20331378;20375222;20404187;20518826;20519382;20538852;20554782;20561040;20573816;20574843;20588308;20592282;20628086;20631305;20699220;20711230;20844191;20846052;20850164;21040977;21068253;21071089;21113677;21115688;21129405;21160051;21170271;21170385;21213104;21228327;21276246;21288362;21320124;21321205;21325029;21361792;21368231;21389130;21518144;21652010;21690236;21698224;21764463;21778165;21792910;21829730;21855056;21886773;21886806;21889215;21897875;21952237;22072748;22112394;22149411;22192711;22200507;22222875;22226324;22258259;22278222;22293894;22301134;22344395;22383950;22396773;22396801;22442431;22527232;22531926;22629479;22674996;22698399;22730532;22731491;22738830;22745372;22814248;22842821;22843696;22879913;22889324;22938469;22951153;22970235;22992810;23008447;23047923;23056170;23166786;23221969;23284052;23333334;23383510;23396947;23449998;23507702;23518714;23552410;23552418;23580013;23616277;23631912;23649622;23675467;23685241;23686695;23755934;23814052;23824799;23929945;23986588;23990053;23990993;24049179;24063997;24067967;24086750;2414376;24144296;24166946;24227842;24260525;24334027;24362959;24478437;24531377;24696485;24794721;24850724;24850742;24872591;24909279;24970844;25016057;3135963;3667593;3872918;6157094;6157601;6159580;6159584;6159597;6162107;6164984;6171735;6178110;6183692;6500557;6762376;7532202;7913356;8083608;8107259;8605876;8661419;8805651;9225992;9342320;9713311 3456 P01574 AB451323;AB451452;ABBA01065178;AL390882;AMYH02019281;BC069314;BC096150;BC096151;BC096152;BC096153;CH471071;EF064725;HB461808;M25460;M28622;NM_002176;V00534;V00535;V00546;V00547 AAA36040;AAC41702;AAH69314;AAH96150;AAH96151;AAH96152;AAH96153;ABK41908;BAG70137;BAG70266;CAA23795;CAA23796;CAA23807;CAA23808;CBA11062;EAW58625;NP_002167;P01574 Hs.93177 1791890;1792098;1792184;1792552;1793284;1796056;2148504;5492547 D9S2016;IFNB1_144;PMC129788P3;PMC136892P1;PMC13914P2;PMC153761P1;PMC204479P2;UniSTS:481607 IFB;IFF;IFNB;MGC96956 IFN-beta;OTTHUMP00000021131;fibroblast interferon;interferon beta;interferon, beta 1 protein-coding ENSG00000171855 HGNC:5434 00972 147640 VALIDATED 1606106 IFNE interferon, epsilon INVOLVED IN defense response to bacterium (ortholog); defense response to virus (ortholog); PARTICIPATES IN Jak-Stat signaling pathway; Retinoic acid-inducible gene (RIG) I-like receptor signaling pathway; INTERACTS WITH disodium selenite; vanadyl sulfate 9 9 9 p21.3 21419150 21420624 - 21480838 21482312 - 21480839 21482313 - 6480464;6907045 12477932;12975309;15233997;15546383;17287131;17878351;18362232;18842358;20574843;20588308;20601674;22565157;23802172;23851686;24023261;24055696 338376 Q86WN2 ABBA01065176;AL353732;AMYH02019286;AY190045;AY358570;BC100871;BC100872;BC100873;NM_176891 AAI00872;AAI00873;AAI00874;AAO38686;AAQ88933;NP_795372;Q86WN2 Hs.682604 1797728;5493083 IFNT1_2211;UniSTS:484186 IFN-E;IFNE1;IFNT1;INFE1;MGC119018;MGC119020;PRO655 IFN-epsilon;OTTHUMP00000215910;interferon epsilon;interferon epsilon 1;interferon epsilon-1;interferon tau-1;interferon-epsilon protein-coding ENSG00000184995 HGNC:18163 17132 615223 VALIDATED 6769427 IFNG-AS1 IFNG antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 12 12 q15 68383240 68414985 + 67989445 68021327 + 8554872 11735227;12719555;14702039;22851706;24056746 100885789 ABBA01026561;AC005294;AK124066;AMYH02026693;BG756823;HG504926;HG504927;HG504928;NR_104124;NR_104125 Hs.439832 GS1-410F4.2;Tmevpg1 APPROVED ncrna ENSG00000255733 HGNC:43910 VALIDATED 1349807 IFNGR1 interferon gamma receptor 1 This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008] 6 6 6 q23.3 138258636 138280689 - 137518621 137540981 - 137197484 137219430 - 1624283;1580863;6480255;6480431;6480259;4144122;6480268;6480271;4892610;6480429;6480464;6484113;6907045;7240710;8554872;8699517 12851715;15589309;19575238;20655098;20808962;21266457;21458658;21737883;8960473 10022928;10192386;10415122;10811850;10848598;10986460;11139207;11240951;11250200;11438544;11585785;11857344;11865431;12020266;12023780;12027427;12034035;12133952;12165521;12244188;12438563;12454749;12477932;12516030;12543882;12743658;12753505;14574404;14734726;14763782;15004750;15047947;15182327;15207788;15489334;15494521;15522878;15527154;15756299;15780933;15952126;16115485;16233916;16476014;16491350;16563189;16690980;16785527;16867043;16944293;17023216;17030574;17136124;17152005;17166914;17251453;17339358;17348823;17392024;17431682;17477815;17513528;17546485;17572155;17618444;17697357;17986123;1826725;18287876;18414508;18548239;18555234;18593809;18620489;18633131;18676680;18702743;18809513;18931463;18953482;19141860;19170196;19172849;19247692;19269302;19279332;19488747;19625176;19681704;19692168;19712753;19723394;19734231;19739012;19913121;19948975;20015550;20055726;20070287;20196868;20237496;20331378;20399512;20412699;20452482;20453000;20500698;20587546;20588308;20628086;20673868;20677014;20799037;20959405;20980339;21139048;21190998;21221749;21460021;21689637;21722521;21731057;21859832;21890473;21906983;21963094;22505724;22564607;22595141;22644879;22711893;23000965;23040881;23935197;24199198;24220318;24453034;24680779;24816145;24886089;25015289;2532616;2954953;2971451;7499845;7514165;7617032;7673114;8125298;8136357;8156998;8443182;8456300;8500521;8631301;8889548;8960475;9112336;9367779;9389728 3459 F5H5M7;P15260;Q5TFC9;Q5TFD1 ABBA01025818;AF056979;AJ490331;AK127636;AK222803;AK294252;AK297052;AK312674;AL050337;AMYH02014568;AMYH02014569;AY594694;BC005333;BT006814;BU674317;CH471051;DC349115;EF173879;EF535103;J03143;NG_007394;NM_000416;U19247;XM_006715470;XM_006715471 AAA52731;AAC52064;AAH05333;AAK30623;AAP35460;AAS89302;ABM53152;ABQ00413;BAD96523;BAG35556;BAG57548;BAG59578;CAD35933;EAW47931;EAW47932;NP_000407;P15260;XP_006715533;XP_006715534 Hs.520414 1645996;1649382;1660060;1847275;2117329;5037552 D6S1835;D6S2065;D6S2101;D8S2279;RH12511;RH15671 AVP, type 2;CD119;CDw119;FLJ45734;IFN-gamma-R1;IFNGR;IMD27A;IMD27B CD119 antigen;IFN-gamma receptor 1;OTTHUMP00000017285;OTTHUMP00000017286;antiviral protein, type 2;immune interferon receptor 1;interferon-gamma receptor alpha chain APPROVED protein-coding ENSG00000027697 HGNC:5439 00127 107470;209950;600263;607948;610424;615978 REVIEWED 1316782 IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 19965288 19999915 + 34775202 34809828 + 33402896 33437521 + 1580863;6480464;6907045;7240710;8554872;8699517 10830953;11240951;11585785;11679576;12020266;12420205;12477932;14651967;15004750;15103018;15182327;15489334;15585559;15924140;15952126;15979955;16115485;16467876;16467883;16670301;16690980;16780588;16867043;16885196;16944293;17220333;17546485;17618444;17697357;17703412;18249187;18620489;18633131;18676680;19012493;19141860;19170196;19172849;19247692;19258923;19269302;19322201;19505916;19625176;19657228;19692168;19789190;19913121;19948975;20039824;20237496;20378664;20452482;20453000;20503287;20554027;20587546;20588308;20628086;20673868;20709103;20952689;20959405;20980339;2141727;21988832;22057826;22219326;22634764;22936669;23128233;23161749;23251661;23459074;23963039;24390342;3136170;7514165;7673114;8124716;8349631;8631301;8910544;9616207 3460 A8K881;B5MCZ0;E7EUY1;F8WE34;F8WF11;H7C1V5;P38484 ABBA01057340;ABBA01057341;ABBA01057342;AI824138;AK292246;AK314005;AMYH02037736;AMYH02037737;AP000299;AP000300;AY644470;BC003624;BG391103;BQ008968;CB992729;CH471079;EF173886;JA738573;KF457222;KF510547;NG_007570;NM_005534;U05875;U05877;U68755;XM_005260969 AAA16955;AAA16956;AAC52066;AAH03624;AAT45458;ABM53159;ABM83246;ABM86448;BAF84935;BAG36717;CCF76939;EAX09834;EAX09835;NP_005525;P38484;XP_005261026 Hs.634632 1660495;1685139;1767113;1767264;1796058;1799174;1800496;1801020;1801432;1802364;1805316;1810476;1816540;1820772;1826876;1827034;1827392;1827724;1828522;1829210;1829612;1830290;1830530;1832116;1833314;1834610;1838316;1841078;1842722;1843036;1843722;1845890;1846460;2028208;2028210;2028212;2028214;2028216;2028218;2028220;2028222;2028224;2028226;2028228;2028230;2028232;2028234;2028236;2028238;2028240;2028242;2028244;2028246;2028248;2028250;2028252;2028254;2028256;2028258;2028260;2028262;2028264;2028266;2028268;2028270;2028272;2028274;2028276;2028278;2028280;2028282;2028284;2028286;2028288;2028290;2028292;2028294;2028296;2028298;2028300;2028302;2028304;2028306;2028308;2028310;2028312;2028314;2028316;2028318;2028320;2028322;2028324;2028326;2028328;2028330;2028332;2028334;2028336;2028338;2028340;2028342;2028344;2028346;2028348;2028350;2028352;2028354;2028356;2028358;2028360;2028362;2028364;2028366;2028368;2028370;2028372;2028374;2028376;2028378;2028380;2028382;2028384;2028386;2028388;2028390;2028392;2028394;2028396;2028398;2028400;2028402;2028404;2028406;2028408;2028410;2028412;2028414;2028416;2028418;2028420;2028422;2028424;2028426;2028428;2028430;2028432;2028434;2028436;2028438;2028440;2028442;2028444;2028446;2028448;2028450;2028452;2028454;2028456;2028458;2028460;2028462;2028466;2028468;2028470;2028472;2028474;2028476;2028478;2028480;2028482;2028484;2028486;2028488;2028490;2028492;2028494;2028496;2101172;2101174;2101176;2101178;2101180;2101182;2101184;2101186;2101188;2101190;2101192;2101194;2101196;2101198;2101200;2101202;2101204;2101206;2101208;2101210;2101212;2101214;2101216;2101218;2101220;2101224;2101226;2145910;2164658 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AF-1;IFGR2;IFNGT1;IMD28 IFN-gamma receptor 2;IFN-gamma-R2;OTTHUMP00000067750;OTTHUMP00000067751;OTTHUMP00000198130;interferon gamma receptor 2;interferon gamma receptor accessory factor 1;interferon gamma receptor accessory factor-1;interferon gamma receptor beta chain;interferon gamma transducer 1 APPROVED protein-coding ENSG00000159128 HGNC:5440 00956 147569;209950;614889 REVIEWED 737487 IFNG interferon, gamma This gene encodes a member of the type II interferon family. The protein encoded is a soluble cytokine with antiviral, immunoregulatory and anti-tumor properties and is a potent activator of macrophages. Mutations in this gene are associated with aplastic anemia.[provided by RefSeq, Nov 2009] 12 12 12 q14 68212600 68217569 - 68548550 68553521 - 68154770 68159741 - 1358738;1331525;1580863;2311489;2311493;2308950;2311498;2311494;2311495;2311491;2311492;2311490;2317258;4145651;4145525;5128479;6480464;5686773;5147915;6893373;6893377;6893452;6893364;6893369;6893461;727266;6893374;6893456;6893463;6893460;6893353;6893462;6893349;6484113;6907045;7240710;6480432;8157615;8142379;8157599;8157601;7829781;7829803;8158034;6483833;8142380;8157619;8157622;7794747;8142356;8142393;8157598;8142388;7794734;8142386;8142372;8142373;8142377;8157603;8157604;8157612;7365086;8157618;8158035;8158041;8142391;8142343;8157597;6480259;7987908;8142347;8142352;8142375;7987911;7987912;8157623;8142346;8142354;8142390;8142394;8157614;7829753;7987910;8157616;8157617;8157621;8662972;8693328;8554872;7364833 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3458 P01579;Q96LA2 AB451324;AB451453;ABBA01026561;AC007458;AF375790;AF506749;AM903379;AMYH02026693;AY044154;AY255837;AY255839;BC070256;CH471054;CS723354;EF173872;J00219;NG_015840;NM_000619;V00543;X01992;X13274;X62468;X62469;X62470;X62471;X62472;X62473;X62474;X87308 AAB59534;AAH70256;AAK53058;AAK95388;AAM28885;AAP20098;AAP20100;ABM53145;BAG70138;BAG70267;CAA23804;CAA26022;CAA31639;CAA44325;CAA44326;CAA44327;CAA44328;CAA44329;CAA44330;CAA44331;CAP17327;CAQ43129;EAW97180;NP_000610;P01579 Hs.856 1741639;1742785;1792018;1792564;1793184;1793512;2114000;2217474;5022855;5117843;5117845 GDB:181602;GDB:207646;GDB:624768;GDB:624777;IFNG;IFNG_3047;IFNG_mf;PMC135596P1;PMC154023P1;PMC199428P1;PMC22712P3 IFG;IFI IFN-gamma;OTTHUMP00000240111;immune interferon;interferon gamma APPROVED protein-coding ENSG00000111537 HGNC:5438 00957 147570;607948;609135;609423;609532;613254 REVIEWED 1347142 IFNL1 interferon, lambda 1 This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 28B (IL28B) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008] 19 19 19 q13.13 36588638 36590984 + 39786965 39789312 + 39296325 39298672 + 1580863;6907045;6480464 12469119;12477932;12483210;15166220;15489334;15850793;15899585;16014923;16051921;16478884;16539846;16618774;17082759;17252004;17367910;18281438;18698163;18757365;18830264;19155475;19193806;19304895;19346497;19759281;19798076;20057073;20060832;20103601;20309637;20337614;20592090;20726961;20934432;21040977;21075852;21145813;21170333;21190998;21398614;21499846;21679442;21800339;21816185;21847628;21957142;22058416;22072783;22135341;22249201;22701693;22891284;23039206;23150165;23151616;23207147;23218741;23258595;23529855;23729669;24068736;24140069;24337382;24385435 282618 Q8IU54 ABBA01040724;AC011445;AMYH02036087;AY129150;AY184372;AY336716;BC074985;BC117482;BC126183;CH471126;CS055923;CS183955;CS364716;CS443042;CS443044;FB742070;GM040594;GM615402;GM615404;HC206738;HC206740;HI658880;HI659151;HQ214053;JB971263;JF268782;NM_172140 AAH74985;AAI17483;AAI26184;AAN28265;AAN86125;AAR24511;ADO12077;ADR82839;AEV89427;CAI75183;CAJ41836;CAL33802;CAL68893;CAL68894;CAS97664;CAT00937;CAT00938;CAT02302;CBI85489;CBI85490;CBY45348;CBY45408;CDL78891;EAW56871;NP_742152;Q8IU54 Hs.406745 IL-29;IL29 IFN-lambda-1;cytokine Zcyto21;interferon lambda-1;interferon-lambda-1;interleukin 29 (interferon, lambda 1);interleukin-29 APPROVED protein-coding ENSG00000182393 HGNC:18363 09588 607403 REVIEWED 1319166 IFNK interferon, kappa This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. [provided by RefSeq, Jul 2008] 9 9 9 27452433 27454617 + 27524312 27526496 + 27524314 27526498 + 1580863;6480464;6907045 11514542;12391192;12975309;15164053;15340161;18615156;19734901;19887612;20479716;20574843;20588308;20634891;20694011;20706608;20801718;21849431;23376709 56832 Q9P0W0 ABBA01065127;AF146759;AF315688;AF384048;AL451123;AMYH02019355;AY358855;CH471071;NM_020124 AAF67468;AAI40281;AAI41648;AAK01623;AAK63835;AAQ89214;EAW58563;NP_064509;Q9P0W0 Hs.591083 IFNT1;INFE1;RP11-27J8.1 IFN-kappa;OTTHUMP00000021169;interferon kappa;interferon-like protein APPROVED protein-coding ENSG00000147896 HGNC:21714 17133 615223;615326 REVIEWED 1351993 IFNL2 interferon, lambda 2 This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28B (IL28B), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008] 19 19 19 q13.13 36560830 36562405 + 39759157 39760732 + 39268517 39270092 + 1580863;6907045;6480464;8554872 12469119;12477932;12483210;15850793;15899585;16051921;16146571;16413080;16478884;16539846;16618774;17367910;19193806;19304895;19798076;20235331;20576307;21145813;21170333;21499846;22253847;22560878;22825757;22891284;22962576;23207147;23652058;24385435;24973639 282616 Q8IZJ0 ABBA01040724;AC011445;AMYH02036087;AY129148;AY184373;AY336715;BC113581;BC113583;CH471126;CS055921;CS183953;CS364714;DQ126336;DQ126337;FB742068;GM040592;HI658878;HI659149;JB971259;NM_172138 AAI13582;AAI13584;AAN28263;AAN86126;AAR24510;AAZ38827;AAZ38828;CAI75182;CAJ41835;CAL33801;CAS97663;CAT02301;CBY45347;CBY45407;CDL78889;EAW56870;NP_742150;Q8IZJ0 Hs.567792 1746493;1783784;5492455;5493279 G64446;SHGC-111908;UniSTS:481128;UniSTS:485588 IL-28A;IL28A IFN-lambda-2;cytokine Zcyto20;interferon lambda 2;interferon lambda-2;interferon-lambda 2;interleukin 28A (interferon, lambda 2);interleukin-28A APPROVED protein-coding ENSG00000183709 HGNC:18364 09586 607401 REVIEWED 1348657 IFNL3 interferon, lambda 3 This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008] 19 19 19 q13.13 36537863 36539202 - 39734272 39735916 - 39243632 39245077 - 1580863;6480464;6907045;7240710 12469119;12477932;12483210;16413080;16478884;16539846;16618774;18987645;19304895;19457860;19684573;19749757;19749758;19759533;20060832;20176026;20235331;20346265;20389235;20399780;20434452;20455677;20576307;20578254;20621700;20637200;20648473;20659305;20708617;20723035;20728570;20803561;20804372;20887330;20889274;20890887;20924369;20931559;20950615;20964522;20977343;21038423;21048934;21068134;21070502;21080244;21111740;21112657;21112660;21129805;21145800;21145813;21146242;21147186;21254157;21254158;21254179;21254188;21257738;21325786;21354446;21360716;21374656;21378537;21382156;21384511;21390311;21402922;21413051;21439960;21447862;21466653;21479134;21480318;21501223;21592993;21600205;21606533;21612542;21615377;21618576;21647799;21670772;21674555;21692944;21703198;21703201;21721028;21722179;21739451;21745278;21745312;21750736;21760886;21790472;21800339;21813376;21861317;21861668;21876443;21879313;21884517;21889215;21898478;21900787;21905441;21911885;21931540;21932415;21933876;21951981;21974859;21983945;21987611;22013224;22027585;22046316;22052088;22096924;22098416;22108195;22110669;22117591;22155912;22156487;22168813;22174846;22180014;22180419;22189977;22192885;22193282;22200702;22234924;22239156;22245236;22247028;22248659;22253715;22253847;22257210;22263608;22277049;22285807;22295096;22298465;22300408;22310928;22313623;22314430;22324878;22325058;22328925;22329371;22336134;22350701;22374338;22411462;22431022;22460962;22473858;22495472;22497812;22505587;22509814;22511448;22521356;22525303;22530607;22543885;22545770;22555162;22577043;22591106;22612303;22613000;22634340;22641049;22649509;22666430;22719902;22727259;22762459;22766768;22790387;22882858;22898703;22913807;22930497;22943900;22964578;22966241;22967712;22986179;23002361;23008132;23020144;23030669;23080496;23083820;23090351;23101227;23103287;23107586;23109451;23118858;23121166;23121365;23133602;23135762;23137758;23142377;23147144;23149444;23151203;23159283;23164695;23173032;23196939;23197895;23207147;23220171;23225905;23227209;23237012;23259930;23266640;23293195;23298311;23301546;23301835;23314745;23323000;23323251;23333445;23343781;23358556;23382988;23420232;23426277;23440114;23442843;23449268;23455512;23469142;23486666;23490371;23522062;23532802;23564024;23570849;23587473;23591768;23594959;23611115;23615070;23647954;23652058;23703931;23712427;23722013;23730840;23782163;23784926;23826153;23829453;23850879;23859071;23874902;23880623;23908124;23916907;23936294;23936821;23950709;24026885;24039107;24057245;24070114;24085431;24096049;24116050;24117654;24167602;24188401;24204859;24222948;24241692;24244641;24259970;24293567;24302757;24311440;24325405;24349500;24379268;24385435;24389274;24396987;24398031;24415442;24438678;24438679;24445571;24465773;24532585;24579307;24620020;24646752;24672032;24770613 282617 Q8IZI9 ABBA01040723;AC011445;AMYH02036087;AY129149;AY184374;AY336714;AY336717;BC130314;BC130316;CH471126;CS055925;CS183957;CS364718;FB742072;GM040596;HI658882;HI659153;JB971261;NM_172139;XM_005258765 AAI30315;AAI30317;AAN28264;AAN86127;AAQ01561;AAR24509;ADR82849;CAI75184;CAJ41837;CAL33803;CAS97665;CAT02303;CBY45349;CBY45409;CDL78890;EAW56869;NP_742151;Q8IZI9;XP_005258822 Hs.406744 1746493;1783784;5492461;5493803 G64446;SHGC-111908;UniSTS:481139;UniSTS:494905 IL-28B;IL-28C;IL28B;IL28C IFN-lambda-3;IFN-lambda-4;cytokine Zcyto22;interferon lambda-3;interferon lambda-4;interferon, lambda 4;interleukin 28B (interferon, lambda 3);interleukin 28C;interleukin-28B;interleukin-28C APPROVED protein-coding ENSG00000197110 HGNC:18365 09587 607402;609532 REVIEWED 7207191 IFNL4 interferon, lambda 4 (gene/pseudogene) ENCODES a protein that exhibits cytokine activity; INVOLVED IN defense response to virus; tyrosine phosphorylation of Stat1 protein; tyrosine phosphorylation of Stat2 protein; FOUND IN cytoplasm; extracellular space 19 19 q13.2 39736954 39739496 - 39246314 39248856 - 19684573;23291588;23420232;23956438;24205831;24325405;24355007;24367041;24415789;24646752 101180976 K9M1I6;K9M1U5 ABBA01040723;AC011445;AMYH02036087;JN806225;JN806226;JN806227;JN806228;JN806229;JN806230;JN806231;JN806232;JN806233;JN806234;NM_001276254;NR_074079 AFQ38550;AFQ38551;AFQ38552;AFQ38553;AFQ38554;AFQ38555;AFQ38556;AFQ38557;AFQ38558;AFQ38559;K9M1U5;NP_001263183 Hs.745579 IFN-lambda-4 IFNAN;interferon lambda-4 protein-coding ENSG00000272395 HGNC:44480 615090 VALIDATED 7779608 IFNL4P1 interferon, lambda 4 pseudogene 1 19 19 39755022 39756457 + 39264382 39265817 + 101927833 ABBA01040723;AC011445;AMYH02036087 pseudo HGNC:45090 MODEL 7033465 IFNL3P1 interferon, lambda 3 pseudogene 1 19 19 19 36530836 36531531 - 39727244 39727939 - 39236604 39237299 - 100421129 ABBA01040723;AC011445;AMYH02036087;NG_024181 IL28BP1 APPROVED pseudo HGNC:44483 INFERRED 1603554 IFNLR1 interferon, lambda receptor 1 The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 22810129 22843204 - 24480647 24513765 - 24154157 24187275 - 6480464;6907045;8554872 12469119;12477932;1248321;12483210;12521379;14702039;15146197;15166220;15231747;16618774;16819289;19240061;19724244;19798076;20057073;20237496;20934432;20953190;21742059;22386267;22891284;23565619;24409098;24438680;24752298 163702 Q5VTX9;Q8IU57 ABBA01059899;AF439325;AJ534330;AJ534331;AK160364;AL590683;AMYH02000517;AY129151;AY129152;AY129153;BC101407;BC101408;BC101975;BC139722;BC140872;CH471134;CN289861;CS183947;GM662570;JN591376;NM_170743;NM_173064;NM_173065;XM_006710394 AAI01409;AAI01976;AAI39723;AAI40873;AAN28266;AAN28267;AAN28268;AAN63632;AEX60805;BAD18707;CAD58829;CAD58830;CAJ41832;CAV33829;EAW95113;EAW95114;EAW95115;EAW95116;EAW95117;EAW95118;NP_734464;NP_775087;NP_775088;Q8IU57;XP_006710457 Hs.221375 1335113;1698686;1762959;2125233;2161819;5015619;5037552;5109281 D11S3114;D1S1152;D1S1425;D8S2279;RH102903;SHGC-146707;SHGC-56802;SHGC-56929 CRF2/12;IFNLR;IL-28R1;IL28RA;LICR2 CRF2-12;IFN-lambda receptor 1;IFN-lambda-R1;IL-28 receptor subunit alpha;IL-28R-alpha;IL-28RA;OTTHUMP00000003067;OTTHUMP00000003068;OTTHUMP00000003069;OTTHUMP00000003070;class II cytokine receptor CRF2/12;cytokine receptor class-II member 12;cytokine receptor family 2 member 12;interferon lambda receptor 1;interferon lambda, receptor 1;interleukin 28 alpha receptor;interleukin 28 receptor A;interleukin 28 receptor, alpha (interferon, lambda receptor);interleukin or cytokine receptor 2;interleukin-28 receptor subunit alpha;likely interleukin or cytokine receptor 2 APPROVED protein-coding ENSG00000185436 HGNC:18584 09589 607404 REVIEWED 1346971 IFNP23 interferon pseudogene 23 3464 HGNC:5445 2303318 IFNNP1 interferon, nu 1, pseudogene 9 9 9 p21.3 20997038 20997590 - 21058770 21059322 - 21058771 21059323 - 15922016 654783 ABBA01065178;AL390882;AMYH02019281;NG_009495 APPROVED pseudo HGNC:32009 INFERRED 1350385 IFNP24 interferon pseudogene 24 8001965 3465 HGNC:5446 1350481 IFNW1 interferon, omega 1 ENCODES a protein that exhibits cytokine receptor binding (inferred); INVOLVED IN cell cycle arrest (inferred); defense response to virus (inferred); response to virus (inferred); PARTICIPATES IN Jak-Stat signaling pathway; Retinoic acid-inducible gene (RIG) I-like receptor signaling pathway; INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 9 9 9 p22 21078911 21080424 - 21140631 21142144 - 21140632 21142145 - 1580863;6480464;6907045 10835682;12089333;12477932;1385305;15340161;15489334;15621727;1647209;16504056;1693148;1834641;19863576;20237496;20331378;20574843;20588308;20677014;21832049;21854986;22192711;2985969;3895159;7913356 3467 P05000 A12140;ABBA01065178;AL390882;AMYH02019282;AY780805;BC069095;BC117290;BC117292;CH471071;CQ847553;GM863571;HH960130;M11003;NM_002177;U25670;X02669;X58822 AAA52724;AAA70091;AAH69095;AAI17291;AAI17293;AAV49320;ADR82862;CAA01011;CAA26501;CAA41626;CAH18028;CAT16479;CBX51309;EAW58624;NP_002168;P05000 Hs.73010 1653420;1796060;5492761;5493715 D9S1967;IFNW1_147;UniSTS:482401;UniSTS:491186 IFN-omega 1, interferon omega-1;OTTHUMP00000021133;interferon alpha-II-1;interferon omega-1 protein-coding HGNC:5448 00944 147553 PROVISIONAL 1342707 IFNWP15 interferon, omega 1 pseudogene 15 9 9 9 p22 21116799 21117887 - 21178509 21179597 - 21178510 21179598 - 1385305;3857460;4057246 100130866 ABBA01065178;AL512606;AMYH02019283;K03013;NG_001150 APPROVED pseudo HGNC:5449 INFERRED 1351291 IFNR interferon production regulator 1193239;1906174 3466 HGNC:5447 147573 1342493 IFNWP18 interferon, omega 1 pseudogene 18 9 9 9 p22 21147489 21148195 - 21209191 21209898 - 21209192 21209899 - 1385305;15489334;2995168;4057246;6181262;6397400;8910771;9425112 360001 ABBA01065178;AL512606;AMYH02019283;NG_002922;V00531 1653483;1741627;1796044 GDB:181595;IFNA10_134;RH47035 LEIF-M APPROVED pseudo HGNC:5450 INFERRED 1349798 IFNWP2 interferon, omega 1 pseudogene 2 9 9 9 p21.3 21358546 21359125 + 21420233 21420812 + 21420234 21420813 + 15233997;8001965 646581 ABBA01065176;AL353732;AMYH02019285;NG_011585 1786910 SHGC-111582 APPROVED pseudo HGNC:5452 INFERRED 1349149 IFNWP4 interferon, omega 4 (pseudogene) 3469 HGNC:5453 1353743 IFNWP5 interferon, omega 1 pseudogene 5 9 9 9 p21.3 21169125 21170157 - 21230820 21231852 - 21230821 21231853 - 19373437;8001965 392292 ABBA01065178;AL162420;AMYH02019283;NG_016582 APPROVED pseudo HGNC:5454 INFERRED 1343854 IFNWP9 interferon, omega 1 pseudogene 9 9 9 9 p21.3 21128443 21129542 - 21190145 21191243 - 21190146 21191244 - 1385305;8001965 100130671 ABBA01065178;AL512606;AMYH02019283;NG_016396 APPROVED pseudo HGNC:5455 INFERRED 1345875 IFNWP19 interferon, omega 1 pseudogene 19 9 9 9 p22 21393750 21394379 + 21455438 21456067 + 21455439 21456068 + 1385305;15233997 3474 ABBA01065176;AL353732;AMYH02019286;NG_005641 APPROVED pseudo HGNC:5451 INFERRED 69163 IFRD1 interferon-related developmental regulator 1 This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 7 7 7 q31.1 106875197 106928212 + 112063199 112117258 + 112423144 112477203 + 729090;1580863;6480464 9722946 12107410;12198164;12477932;12665168;12690205;12691737;12853948;12878157;15489334;15743821;16169070;16204248;17207965;19242412;19409521;20080976;20195544;20400778;21127072;21139048;21555518;21723850;21890473;21903422;22959728;23043087;23989986;2467301;24778252;2797820;7756174;7809103;8028043;8125298;8889548;9822615 3475 A4D0U1;C9J311;C9J7U6;C9JA65;C9JFH1;C9JK78;C9JLG5;C9JNM6;E9PMY4;H0YEE3;O00458 ABBA01057846;ABBA01057847;ABBA01057848;AC002459;AC005192;AC079741;AK225222;AK297509;AK298894;AK308066;AK313211;AK315967;AMYH02016583;AU280361;BC001272;BF061555;BI915700;BT019889;BT019890;BX648799;CA389949;CA503278;CH236947;CH471070;CN265021;DC314572;DC352698;NG_027799;NM_001007245;NM_001197079;NM_001197080;NM_001550;NR_120333 AAC24562;AAH01272;AAS02003;AAS02004;AAS07421;AAV38692;AAV38693;ADQ31820;BAH12596;BAH12897;BAH14338;EAL24375;EAW83462;EAW83463;NP_001007246;NP_001184008;NP_001184009;NP_001541;O00458 Hs.744747;Hs.7879 1696842;1698806;1710604;2171366;2171368;2177601 A001W15;G19708;G49165;RH102966;RH11542;SHGC-83988 PC4;TIS7 12-O-tetradecanoylphorbol-13-acetate-induced sequence 7;OTTHUMP00000207275;OTTHUMP00000207380;TPA induced sequence 7;nerve growth factor-inducible protein PC4;pheochromocytoma cell-4 APPROVED protein-coding ENSG00000006652 HGNC:5456 04612 603502 REVIEWED 1602869 IFRG15 interferon responsive gene 15 INTERACTS WITH arsenous acid; copper(2+) sulfate; diarsenic trioxide q25.2 6480464 12477932 64163 AJ299406;AK289793;AL359853;BC032790;BC096704;BC098170;BC098309;BC098348;CH471067;NM_022347 AAH32790;AAH96704;AAH98170;AAH98309;AAH98348;BAF82482;CAC13974;EAW91065;NP_071742;Q9H496 Hs.655655;Hs.716051 MGC120074;MGC120077 protein-coding 17135 1320999 IFRD2 interferon-related developmental regulator 2 FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; atrazine 3 3 3 p21.3 50297995 50302857 - 50325163 50330648 - 50287732 50292595 - 1580863;6480464 11085536;12477932;14702039;15489334;16303743;18976975;19615732;19953087;20689807;21044950;21139048;21832049;21903422;21963094;23000965;24778252;9050919;9722946 7866 F8WEI6;H7C2Z4;H7C444;Q12894;Q9UJ88 ABBA01024552;AI292274;AK074763;AK097765;AK309114;AMYH02006767;BC001327;BC001676;BC007265;BC007437;BI825477;BT019999;CH471055;NM_006764;U09585;U73167;U90094;Y12395 AAC02728;AAC16924;AAH01327;AAH01676;AAH07265;AAH07437;AAV38802;ACE87031;ACE87717;BAG51999;CAA73027;EAW65069;EAW65070;NP_006755;Q12894 Hs.315177;Hs.743323 1678967;1684152;2108165;2157644;2219154 HYAL3__6618;IFRD2_8768;RH76408;RH80851;SHGC-76999 FLJ40446;IFNRP;SKMc15;SM15 OTTHUMP00000211049;OTTHUMP00000211050;interferon-related protein protein-coding ENSG00000214706 HGNC:5457 04101 602725 VALIDATED 1605413 IFT140 intraflagellar transport 140 This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012] 16 16 16 p13.3 1772703 1874383 - 1560428 1662109 - 1510427 1612108 - 6480464;8699517;7240710;8554872 11157797;12421765;12477932;14702039;15489334;20936779;21890473;21900206;21906983;22282595;22503633;22505724;23418020;9628581 9742 H3BNC5;H3BTA5;I3L0Y8;J3KPW0;Q96RY7 AB011162;AB209020;ABBA01030301;ABBA01030302;ABBA01030303;ABBA01030304;ABBA01030305;AE006467;AE006639;AK001168;AK001797;AK055133;AK299035;AK299115;AL031705;AL031719;AL031720;AL080069;AL133297;AMYH02031233;AMYH02031234;AMYH02031235;AW245075;BC035577;CH471112;DC401677;NG_032783;NM_014714;XM_005255725;XM_005255726;XM_006720989;XM_006720990;XM_006720991;XM_006720992;Z97633;Z97652 AAH35577;AAK61285;AAK61287;BAA25516;BAD92257;BAG51475;BAG61110;BAG61170;CAB45696;EAW85642;EAW85643;EAW85644;NP_055529;Q96RY7;XP_005255782;XP_005255783;XP_006721052;XP_006721053;XP_006721054;XP_006721055 Hs.389438 1335779;1685554;2120328 D16S3024;RH93126;STS-AA025090 DKFZp564L232;FLJ10306;FLJ30571;KIAA0590;MZSDS;SRTD9;WDTC2;c305C8.4;c380F5.1;gs114 OTTHUMP00000158737;WD and tetratricopeptide repeats 2;WD and tetratricopeptide repeats protein 2;intraflagellar transport 140 homolog;intraflagellar transport protein 140 homolog APPROVED protein-coding ENSG00000187535 HGNC:29077 11093 266920;614620 REVIEWED 1349473 IFT122 intraflagellar transport 122 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 3 3 3 q21 127585804 127666027 + 129158671 129239350 + 129440036 129520507 + 6480464;7240710;8554872;8699517 11242542;12477932;14702039;16344560;16751776;18029348;19946888;20301743;20493458;21890473;21906983;22190034;22505724;24027799;24250222;8125298 55764 B3KUD1;B4DST2;D6R8Z2;D6RAF7;D6RIB5;H0Y8I2;H0Y978;H0Y9E1;H0Y9E5;H0Y9I6;H0Y9Q2;H0Y9Y9;H0YAG6;H0YAG9;Q9HBG6 ABBA01059227;ABBA01059228;ABBA01059229;ABBA01059230;ABBA01059231;AC080007;AF244930;AF244931;AF302154;AK000773;AK001759;AK001955;AK022525;AK023000;AK024435;AK057162;AK093440;AK094922;AK096891;AK122965;AK124140;AK223095;AK293852;AK294515;AK298526;AK299903;AK307463;AK315103;AL133565;AL449212;AL833851;AMYH02007640;AU123134;BC003045;BC004238;BC028353;BF941125;CH471052;DB099554;DB516647;DC343174;DQ589812;NG_023392;NM_001280541;NM_001280545;NM_001280546;NM_018262;NM_052985;NM_052989;NM_052990;XM_005247603;XM_005247604;XM_005247607;XM_005247608;XM_005247609;XM_005247610;XM_005247611;XM_006713689;XM_006713690;XM_006713691;XM_006713692;XM_006713693;XM_006713694;XM_006713695 AAG13415;AAG15427;AAG15428;AAH03045;AAH04238;AAH28353;ACE87036;ACE87720;BAA91888;BAA92000;BAB14077;BAB15725;BAD96815;BAG51146;BAG52955;BAG53393;BAG53823;BAG54015;BAG57250;BAG57728;BAG60729;BAG61744;CAB63718;CAD38710;EAW79245;EAW79246;EAW79247;EAW79248;EAW79249;EAW79250;NP_001267470;NP_001267474;NP_001267475;NP_060732;NP_443711;NP_443715;NP_443716;Q9HBG6;XP_005247660;XP_005247661;XP_005247664;XP_005247665;XP_005247666;XP_005247667;XP_005247668;XP_006713752;XP_006713753;XP_006713754;XP_006713755;XP_006713756;XP_006713757;XP_006713758 Hs.655284 1655572;2124713;2151152;5014051;5022651;5037552;5109623 D11S2921;D3S2907E;D8S2278;D8S2279;RH16296;RH45232;SHGC-34629 CED;CED1;SPG;WDR10;WDR10p;WDR140 OTTHUMP00000215608;OTTHUMP00000215609;OTTHUMP00000215610;OTTHUMP00000215611;OTTHUMP00000215613;OTTHUMP00000222388;WD repeat domain 10;WD repeat-containing protein 10;WD repeat-containing protein 140;intraflagellar transport 122 homolog;intraflagellar transport protein 122 homolog APPROVED protein-coding ENSG00000163913 HGNC:13556 06922 218330;606045 REVIEWED 1605017 IFT20 intraflagellar transport 20 This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.[provided by RefSeq, Jun 2012] 17 17 17 q11.2 23517095 23524237 - 26655351 26662515 - 28328325 28335489 - 6480464 12107411;12477932;12821668;14672413;15231748;15337773;15489334;16189514;16751776;16775004;17043677;17207965;19855387;20106869;20158880;20360068;21139048;21307337;21490950;21988832;23275563;8619474;9110174 90410 J3KRU2;J3QR43;J3QRC6;J3QRH2;Q8IY31 AA490722;ABBA01015060;AC002094;AF070643;AI768816;AK297769;AK309232;AL713094;AMYH02033221;AY224601;BC002640;BC038094;BE619475;BQ639919;CH471159;DQ599851;NM_001267774;NM_001267775;NM_001267776;NM_001267777;NM_001267778;NM_174887 AAH02640;AAH38094;AAP50265;ADQ32813;ADZ15705;BAH12662;EAW51070;EAW51071;EAW51072;EAW51073;EAW51074;EAW51075;EAW51076;NP_001254703;NP_001254704;NP_001254705;NP_001254706;NP_001254707;NP_777547;Q8IY31 Hs.705431;Hs.744876 1338603;1670029;1677808;1682766;1754015;1855376;2126013;5022578 D17S1824;D1S1423;D20S1105;RH17628;RH24980;SHGC-11786;SHGC-132058;UniSTS:21338 hIFT20 intraflagellar transport 20 homolog;intraflagellar transport protein 20 homolog;intraflagellar transport protein 20-like;intraflagellar transport protein IFT20 APPROVED protein-coding ENSG00000109083 HGNC:30989 17137 614394 REVIEWED 731569 IFT172 intraflagellar transport 172 This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014] 2 2 2 p23.3 27513414 27558746 - 27667240 27712575 - 27444373 27489784 - 6480464;6484113;8699517;7240710;8554872 10574461;10788441;12477932;14702039;20379614;20383146;20705733;21139048;21890473;21906983;21963094;21987572;23505323;24140113;24250222 26160 B3KP68;F5GZ56;H0YAI8;H7C161;H7C186;H7C252;Q9UG01 AB033005;ABBA01045208;AC074117;AK055826;AK299576;AK304658;AK310417;AL110218;AL117421;AMYH02003479;BC008024;BC014849;BC038461;BC047294;BC137126;BC142675;BC142729;BC144491;CH471053;DC394416;NG_034068;NM_015662;XM_005264254;XM_006711986;XM_006711987 AAH08024;AAH47294;AAI37127;AAI42676;AAI42730;BAA86493;BAG51580;BAG61513;BAG65433;CAB53678;CAB55914;EAX00571;EAX00572;EAX00573;EAX00574;EAX00575;NP_056477;Q9UG01;XP_005264311;XP_006712049;XP_006712050 Hs.127401 1768936;5022578;5037552;5124970;5491695 D1S1423;D2S1979;D8S2279;MARC_8083-8084:996688275:1;RH92034 DKFZp434A163;KIAA1179;NPHP17;SLB;SRTD10;osm-1;wim OTTHUMP00000158532;intraflagellar transport 172 homolog;intraflagellar transport protein 172 homolog;selective LIM binding factor homolog;wimple homolog APPROVED protein-coding ENSG00000138002 HGNC:30391 09576 607386;615630 REVIEWED 1313356 IFT22 intraflagellar transport 22 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN centrosome (inferred); cilium (inferred); intraciliary transport particle B (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; copper(2+) sulfate 7 7 7 q22.1 95965814 95974259 - 100956648 100965093 - 101313367 101321823 - 737633;6480464 12477932 12107410;14702039;15489334;16344560;17207965;19240117;21139048;22076686;22939629 64792 F8WDY0;Q9H7X7 ABBA01011335;AC006329;AK023287;AK024179;AK292254;AK298888;AL157469;AMYH02016406;AU133515;BC004522;BC009823;BC038668;BC050531;BU597007;CA396999;CA841889;CH471197;DA700693;DA709553;DN993868;NM_001130820;NM_001130821;NM_001130822;NM_001287525;NM_001287526;NM_022777 AAH04522;AAH09823;AAH38668;ADQ33154;BAB14846;BAF84943;BAG51181;BAH12896;CAH10693;EAW50216;EAW50217;EAW50218;EAW50219;EAW50220;NP_001124292;NP_001124293;NP_001124294;NP_001274454;NP_001274455;NP_073614;Q9H7X7 Hs.389104 1677492;5014019;5015619;5015961;5017266;5020946;5022651;5024761;5037552;5109281;5109663;5118444 D11S2921;D11S3114;D11S3316;D15S1477;D1S1425;D5S2354;D7S2067E;D8S2279;L17971;L18506;RH36905;RH80206 DKFZp761N0823;FLJ13225;FLJ14117;RABL5 OTTHUMP00000211525;OTTHUMP00000211527;OTTHUMP00000211529;OTTHUMP00000227180;OTTHUMP00000227181;RAB, member RAS oncogene family-like 5;RAB, member of RAS oncogene family-like 5;intraflagellar transport 22 homolog;intraflagellar transport protein 22 homolog;rab-like protein 5 APPROVED protein-coding ENSG00000128581 HGNC:21895 15204 VALIDATED 1318628 IFT27 intraflagellar transport 27 This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 22 22 22 q13.1 20952197 20970124 - 37154246 37172177 - 36758202 36776133 - 1580863;6480464;7240710;8699517;8554872 10591208;12477932;12529303;14702039;15461802;15489334;16189514;16751776;17276912;20301537;22022256;22939629;24250222;8889548 11020 B1AH56;B1AH58;F5GZ09;H0Y6C7;Q9BW83 AA809074;AB209424;ABBA01055450;AI215119;AK090708;AK307105;AK307382;AL022729;AMYH02038326;AW236857;BC000566;BM711121;BT006815;BX537634;CH471095;CR456558;DB457924;DB502180;KF457438;NG_034205;NM_001177701;NM_006860;NR_033531;XM_006724106;Z80897 AAH00566;AAP35461;BAD92661;CAA18787;CAG30444;CAK54589;CAK54888;EAW60114;EAW60115;EAW60116;EAW60117;NP_001171172;NP_006851;Q9BW83;XP_006724169 Hs.415172 1657538;2144018;2151025 RH45587;STS-T69764;WI-15209 BBS19;DKFZp686M22208;FLJ33389;RABL4;RAYL OTTHUMP00000197792;OTTHUMP00000197793;OTTHUMP00000197795;OTTHUMP00000197796;RAB, member of RAS oncogene family-like 4;intraflagellar transport 27 homolog;intraflagellar transport protein 27 homolog;putative GTP-binding protein RAY-like;rab-like protein 4 APPROVED protein-coding ENSG00000100360 HGNC:18626 209900;615870 REVIEWED 1602079 IFT43 intraflagellar transport 43 This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 14 14 14 q24.3 56490240 56588245 + 76452096 76550416 + 75985753 76084073 + 6480464;8699517;8554872;7240710 12477932;12508121;14702039;15489334;17207965;18029348;21378380;21890473;21906983;24027799;24236485;8889548 112752 G3V4X2;Q96FT9 ABBA01030689;ABBA01030690;AC008015;AF107885;AK056735;AK302944;AMYH02029543;AW235031;AW439039;BC010436;BC042852;BI821833;BU627157;CB853974;CH471061;DB443802;DB497730;NG_031957;NM_001102564;NM_001255995;NM_052873;NR_045664;NR_045665 AAC79728;AAF03245;AAH10436;ADQ33216;BAG51798;BAG64101;EAW81241;EAW81246;EAW81248;NP_001096034;NP_001242924;NP_443105;Q96FT9 Hs.532626 1657384;1661867;1667733;1727539;1771498;1783138;2115243;2128750;2156292;5093212;5093494 A009J27;A009P39;D14S1348;D14S771;G32586;G32751;G36086;G63027;RH44406;RH45331;SHGC-173313 C14orf179;CED3;FLJ32173;MGC16028 IFT complex A subunit;OTTHUMP00000246605;OTTHUMP00000246607;hypothetical protein LOC112752;intraflagellar transport 43 homolog;intraflagellar transport protein 43 homolog APPROVED protein-coding ENSG00000119650 HGNC:29669 14449 614068;614099 REVIEWED 1604332 IFT46 intraflagellar transport 46 ENCODES a protein that exhibits protein C-terminus binding (ortholog); INVOLVED IN cilium assembly (ortholog); intraciliary transport (ortholog); protein stabilization (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; ciliary basal body (ortholog); motile cilium (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; copper(2+) sulfate 11 11 11 q23.3 115576037 115597575 - 118415243 118436791 - 118544528 118566076 - 6480464;8554872 10873569;11076863;11230166;11256614;12477932;15489334;15489336;16344560;16381901;17720815;19253336;21139048;22939629 56912 E9PIM8;E9PKW0;E9PMR8;E9PR06;E9PRT0;E9PSB9;Q9NQC8 ABBA01039703;ABBA01039704;ABBA01039705;AJ249980;AK025480;AK289521;AL136934;AMYH02025642;AMYH02025643;AMYH02025644;AP000941;BC011647;BC012802;BC022856;CH471065;CR457344;DA251912;NM_001168618;NM_020153;XM_005271618 AAH11647;AAH12802;AAH22856;BAB15146;BAF82210;CAB66868;CAB96537;CAG33625;CAL37908;CAL38565;EAW67394;EAW67395;EAW67396;NP_001162089;NP_064538;Q9NQC8;XP_005271675 Hs.533738 1671633;1676272;1733198;1736182;1749757;7184853 D11S1954E;D11S2305E;RH91715;SHGC-111513;WI-12265 C11orf2;C11orf60;CFAP32;FLJ21827 OTTHUMP00000232826;OTTHUMP00000232827;OTTHUMP00000232828;UPF0360;cilia and flagella associated protein 32;intraflagellar transport 46 homolog;intraflagellar transport protein 46 homolog;intraflagellar transport protein IFT46 APPROVED protein-coding ENSG00000118096 HGNC:26146 07967 VALIDATED 1322228 IFT52 intraflagellar transport 52 ENCODES a protein that exhibits protein C-terminus binding (ortholog); INVOLVED IN dorsal/ventral pattern formation (inferred); embryonic digit morphogenesis (inferred); heart looping (inferred); FOUND IN intraciliary transport particle B (ortholog); motile cilium (ortholog); INTERACTS WITH 17beta-estradiol; atrazine; copper(2+) sulfate 20 20 20 38927043 38983324 + 42219574 42275862 + 43590934 43647227 + 6480464 10810093;11337467;11549316;11780052;12477932;14702039;15489334;21906983;22797925 51098 Q9Y366 ABBA01052621;ABBA01052622;AF151811;AK001436;AK301915;AL121886;AMYH02037114;AMYH02037115;AU100321;AX876742;BC039831;CH471077;KF456912;NM_016004;XM_005260417;Z98752 AAD34048;AAH39831;ADZ15601;BAG50913;BAG63339;CAE89411;EAW75953;EAW75954;NP_057088;Q9Y366;XP_005260474 Hs.444332 1656214;1668457;1754857;2156450 AL023481;AL031488;SHGC-141781;SHGC-36858 C20orf9;CGI-53;NGD2;NGD5;dJ1028D15.1 OTTHUMP00000031034;OTTHUMP00000031035;chromosome 20 open reading frame 9;intraflagellar transport 52 homolog;intraflagellar transport protein 52 homolog;protein NGD5 homolog APPROVED protein-coding ENSG00000101052 HGNC:15901 12789 VALIDATED 1342560 IFT74 intraflagellar transport 74 ENCODES a protein that exhibits beta-tubulin binding; INVOLVED IN cilium assembly; intraciliary transport involved in cilium morphogenesis; ASSOCIATED WITH Melanoma (inferred); FOUND IN intraciliary transport particle B (ortholog); motile cilium (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2-methylcholine 9 9 9 p21.2 26875190 26991082 + 26947037 27062931 + 26947039 27062933 + 6480464;8554872 11683410;12477932;14702039;15489334;16344560;17383054;18029348;19322201;21139048;22797925;23990561;8125298 80173 A0PJM7;E5RGX6;E5RH29;E5RIF0;E5RJK3;Q96LB3 AA888911;ABBA01065133;ABBA01065134;ABBA01065135;AI919195;AK023707;AK026274;AK225570;AL355432;AL356133;AMYH02019343;AMYH02019344;AMYH02019345;AMYH02019346;AMYH02019347;AY040325;BC023634;BC056875;BC107742;BC113524;BC113526;CH471071;DA617917;DB049275;DB451450;NM_001099222;NM_001099223;NM_001099224;NM_025103 AAH23634;AAI07743;AAI13525;AAK77221;BAB14650;BAB15423;EAW58573;NP_001092692;NP_001092693;NP_001092694;NP_079379;Q96LB3 Hs.145402 1721595;1777739;2152286;2176641 D8S1398E;G59807;STS-Z41378;WI-18307 CCDC2;CMG-1;CMG1;FLJ22621;MGC111562 OTTHUMP00000022772;OTTHUMP00000226593;capillary morphogenesis gene 1 protein;capillary morphogenesis protein 1;coiled-coil domain containing 2;coiled-coil domain-containing protein 2;intraflagellar transport 74 homolog;intraflagellar transport protein 74 homolog APPROVED protein-coding ENSG00000096872 HGNC:21424 09727 608040 VALIDATED 1314279 IFT57 intraflagellar transport 57 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN activation of cysteine-type endopeptidase activity involved in apoptotic process; apoptotic process; regulation of apoptotic process; PARTICIPATES IN Huntington disease pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN ciliary basal body (ortholog); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); copper atom 3 3 3 q13.13 106276278 106338042 - 107879659 107941417 - 108160812 108222570 - 1580863;6480464;6907045;8554872 11788820;11807533;12477932;12745083;12821668;14502241;14702039;15314642;16169070;16344560;16364650;17142908;17173859;18188704;21139048;21832040;21906983;21943362;9140394 55081 B4DQL5;C9JB84;F8WBM2;Q9NWB7 AB014762;ABBA01061707;AC012020;AC078855;AC133475;AF139576;AF245220;AK001009;AK298854;AMYH02007394;BC009690;BC011899;CH471052;CR457251;DA362330;NM_018010 AAH09690;AAH11899;AAK13588;AAK28373;ABM83976;ABM87297;BAA91466;BAB87803;BAG60977;CAG33532;EAW79730;NP_060480;Q9NWB7 Hs.412196 1773583;1776489;1797508;1849840;2127491;2140536;2142978;5491497 A004O21;D3S2909E;ESRRBL1_2148;G31059;MARC_15991-15992:1016824593:1;SHGC-17270;WI-12443;WIAF-2547 ESRRBL1;FLJ10147;MHS4R2 HIP1 protein interactor;HIP1-interacting protein;HIPPI;OTTHUMP00000214395;dermal papilla-derived protein 8;estrogen-related receptor beta like 1;estrogen-related receptor beta-like protein 1;huntingtin interacting protein-1 interacting protein;intraflagellar transport 57 homolog;intraflagellar transport protein 57 homolog APPROVED protein-coding ENSG00000114446 HGNC:17367 09430 606621 VALIDATED 8548733 IFT74-AS1 IFT74 antisense RNA 1 9 9 p21.2 26955778 26956305 - 26955780 26956307 - 101929602 ABBA01065135;AL356133;AMYH02019343;NR_121605;XR_242538;XR_250442;XR_252519 Hs.127665 ncrna ENSG00000234676 HGNC:49806 VALIDATED 1606304 IFT81 intraflagellar transport 81 ENCODES a protein that exhibits tubulin binding; INVOLVED IN cilium assembly; intraciliary transport involved in cilium morphogenesis; spermatogenesis (ortholog); FOUND IN intraciliary transport particle B (ortholog); motile cilium (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; cobalt dichloride 12 12 12 q24.13 110186356 110281972 + 110562140 110656600 + 110124335 110218795 + 6480464 11130971;12477932;12549821;14702039;15342556;15489334;17207965;21139048;21832049;22939629;23990561;24816145 28981 F8W1J4;H0YHE2;H0YIR4;Q8WYA0 ABBA01005086;ABBA01005087;ABBA01005088;ABBA01005089;ABBA01005090;ABBA01005091;ABBA01005092;ABBA01005093;ABBA01005094;ABBA01005095;AC007546;AC009730;AF078932;AF139540;AF250326;AF332010;AK000874;AK091549;AK291043;AMYH02027177;AMYH02027178;BC004536;BC005396;BC029349;BC108257;BP351086;CH471054;NM_001143779;NM_014055;NM_031473;XR_429093 AAD48091;AAH04536;AAH05396;AAH29349;AAI08258;AAL50343;AAO32947;AAP97269;ADQ31808;BAC03690;BAF83732;EAW97897;EAW97898;EAW97899;EAW97900;EAW97901;NP_001137251;NP_054774;NP_113661;Q8WYA0 Hs.528382 1677308;1698972 RH103055;RH81042 CDV-1;CDV-1R;CDV1;CDV1R;DV1;MGC102777;MGC4027 OTTHUMP00000240812;OTTHUMP00000240813;OTTHUMP00000240814;OTTHUMP00000240815;OTTHUMP00000240816;carnitine deficiency-associated gene expressed in ventricle 1;carnitine deficiency-associated protein expressed in ventricle 1;intraflagellar transport 81 homolog;intraflagellar transport 81-like;intraflagellar transport protein 81 homolog APPROVED protein-coding ENSG00000122970 HGNC:14313 09266 605489 VALIDATED 1606252 IFT80 intraflagellar transport 80 The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010] 3 3 3 q25.33 158396141 158538687 - 159974774 160118028 - 160256986 160399532 - 6480464;7240710;8554872;8699517 10718198;12421765;12477932;14702039;16641997;17468754;18601909;19648123;20301743;24250222 57560 C9IZR2;C9J627;C9J6G8;C9J6I5;C9JSB1;C9JUI1;C9JUJ1;F8WCB0;H7C4K6;H7C5M3;H7C5P3;Q9P2H3 AB037795;ABBA01058796;ABBA01058797;ABBA01058798;AC024221;AC079594;AK025109;AK055904;AK125342;AK303410;AL133045;AMYH02008017;AMYH02008018;BC030774;BC036596;BC042027;BC101494;BC113669;CA421514;CH471052;DR000297;NG_022932;NM_001190241;NM_001190242;NM_020800 AAH42027;AAI01495;AAI13670;ADR83267;BAA92612;BAG64463;CAB61372;EAW78643;EAW78644;EAW78645;EAW78646;EAW78647;EAW78648;NP_001177170;NP_001177171;NP_065851;Q9P2H3 Hs.478095 1716381;1761183;1778105;2116782;2181492;5015619;5024039;5037552 D11S3114;D16S325;D3S4120;D8S2279;RH121371;SHGC-145195;SHGC-37245;STS-N68628 ATD2;KIAA1374;MGC126543;SRTD2;WDR56 OTTHUMP00000213728;OTTHUMP00000213729;OTTHUMP00000213730;OTTHUMP00000221710;WD repeat domain 56;WD repeat-containing protein 56;intraflagellar transport 80 homolog;intraflagellar transport protein 80 homolog APPROVED protein-coding ENSG00000068885 HGNC:29262 13853 611177;611263 REVIEWED 1347418 IGAD1 immunoglobulin A (IgA) deficiency susceptibility 1 ASSOCIATED WITH Immunoglobulin a deficiency 1 (inferred) 7240710 10090895 10986 HGNC:5459 137100 1320207 IFT88 intraflagellar transport 88 This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q12.1 2203136 2327509 + 21140585 21265576 + 20566446 20691437 + 6480464;6484113 10200981;10462374;11251073;11329013;12477932;14667819;16043481;16751776;17264151;20300861;20379614;20713499;21441926;21906983;22939629;22941275;22974282;23064961;23870195;24346024;7633404;8191288;8597639;9362446 8100 B3KX42;F5H6C2;F6SRW8;Q13099 ABBA01068584;ABBA01068585;ABBA01068586;ABBA01068587;ABBA01068588;ABBA01068589;AK058172;AK126668;AK300769;AK303853;AK308281;AK310223;AL161772;AL590096;AMYH02027639;AMYH02027640;AMYH02027641;AMYH02027642;BC030776;BC059357;BG182322;BX640833;CH471075;DQ572744;NM_006531;NM_175605;U20362;XM_005266546;XM_005266547;XM_005266548;XM_005266549;XM_005266550;XM_005266551;XM_005266552;XM_005266553;XM_005266555;XM_006719869;XM_006719870;XR_245399 AAA86720;AAH30776;ABW03295;ABW03641;BAG54354;BAG62434;BAG64794;CAE45907;EAX08266;EAX08267;EAX08268;EAX08269;EAX08270;EAX08271;EAX08272;EAX08273;NP_006522;NP_783195;Q13099;XP_005266603;XP_005266604;XP_005266605;XP_005266606;XP_005266607;XP_005266608;XP_005266609;XP_005266610;XP_005266612;XP_006719932;XP_006719933 Hs.187376 1667745;1723753;1748415;2108613;2114569;2176463;5015961;5037552 D15S1477;D8S2279;G64212;RH118612;RH65721;SHGC-57879;STS-U20362;TTC10_8779 D13S1056E;DAF19;MGC26259;RP11-172H24.2;TG737;TTC10;hTg737 OTTHUMP00000018099;OTTHUMP00000018100;TPR repeat protein 10;intraflagellar transport 88 homolog;intraflagellar transport protein 88 homolog;polaris homolog;probe hTg737 (polycystic kidney disease, autosomal recessive);recessive polycystic kidney disease protein Tg737 homolog;tetratricopeptide repeat domain 10;tetratricopeptide repeat protein 10 APPROVED protein-coding ENSG00000032742 HGNC:20606 09000 600595 REVIEWED 6481343 IGBP1-AS1 IGBP1 antisense RNA 1 q13.1 100873991 AL138252;AL139111;HG512560 APPROVED ncrna HGNC:40295 1353136 IGBP1P1 immunoglobulin (CD79A) binding protein 1 pseudogene 1 14 14 14 q13.2 15272959 15273531 + 35409128 35409702 + 34939922 34940496 + 15820313 280655 ABBA01061491;AL049776;AMYH02029002;AY168620;NR_002937 Hs.639271 1788728 RH135891 C14orf19 APPROVED pseudo HGNC:19709 VALIDATED 5683681 IGBP1P2 immunoglobulin (CD79A) binding protein 1 pseudogene 2 17 17 17 q22 53198801 53200757 - 56737013 56738969 - 58659652 58661608 - 11181995 645545 ABBA01041345;ABBA01041346;AC011195;AMYH02033692;CH471109;NG_012738 EAW94435;EAW94436 1787874;1794012 PMC310730P2;SHGC-173542 pseudo HGNC:43611 INFERRED 732872 IGBP1 immunoglobulin (CD79A) binding protein 1 The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008] X X X q13.1-q13.3 69706683 69739540 + 69353318 69386174 + 70133460 70166324 + 1580863;6480464;7240710;8699517;8554872 10441131;10508479;11371618;11685209;11806752;12477932;14556245;14702039;15489334;15772651;16085932;16434393;16517231;16769727;17438131;18029348;18186651;18715871;18782753;18949047;19156129;19553685;20092282;20237496;20360068;20473970;20544796;21139048;21339737;21355954;21454489;21832049;21890473;21906983;21988832;22194938;22613722;22797925;22939629;23000965;23349634;23740247;24145130;24255178;24388773;24778252;24816145;9441740;9647778 3476 P78318 ABBA01067534;ABBA01067535;ABBA01067536;ABBA01067537;ABBA01067538;AK054596;AK315660;AL139111;AL158141;AMYH02039655;BC004137;BT006736;CH471132;CR456782;EF064724;NG_012084;NM_001551;XR_430521;Y08915 AAH04137;AAP35382;ABK41907;ABM83248;ABM86450;BAG38026;BAG51396;CAA70119;CAG33063;EAX05355;EAX05356;NP_001542;P78318 Hs.496267 1667974;1722005;2120736;2126011;2143420;2163784 A006Y20;AF020140;G59889;RH12518;RH48563;SHGC-2602 ALPHA-4;IBP1 B cell signal transduction molecule alpha 4;B-cell signal transduction molecule alpha 4;CD79a-binding protein 1;OTTHUMP00000023464;OTTHUMP00000023465;bA351K23.1 (immunoglobulin binding protein 1 (CD79A) );immunoglobulin binding protein 1;immunoglobulin-binding protein 1;protein phosphatase 2/4/6 regulatory subunit;protein phosphatase 2A, regulatory subunit alpha-4;renal carcinoma antigen NY-REN-16 APPROVED protein-coding ENSG00000089289 HGNC:5461 02140 300139;300472 REVIEWED 5683694 IGBP1P4 immunoglobulin (CD79A) binding protein 1 pseudogene 4 4 4 4 q21.22 80613763 80614783 - 83322731 83323751 - 82401578 82402598 - 391672 ABBA01063432;AC124016;AMYH02009597;NG_022017 pseudo HGNC:43613 INFERRED 5683695 IGBP1P5 immunoglobulin (CD79A) binding protein 1 pseudogene 5 4 4 4 p15.2 28036257 28037255 + 27586772 27587770 + 27585150 27586148 + 391642 ABBA01032739;ABBA01032740;AC097380;AMYH02008944;NG_022053 pseudo HGNC:43614 INFERRED 5683696 IGBP1P3 immunoglobulin (CD79A) binding protein 1 pseudogene 3 3 3 3 p22.3 32599484 32600484 - 32662392 32663392 - 32620900 32621900 - 391526 ABBA01024936;AC104306;AMYH02006501;NG_022199 pseudo HGNC:43612 INFERRED 1316476 IGDCC3 immunoglobulin superfamily, DCC subclass, member 3 INVOLVED IN neuromuscular process controlling balance (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; atrazine 15 15 15 q22.3-q23 42497636 42548506 - 65619465 65670378 - 65327127 65378040 - 1580863;6480464;8554872 11591653;12477932;14702039;15489334;20379614;9922388 9543 H0YKK1;H0YNQ1;Q8IVU1 ABBA01038854;ABBA01038855;AC105129;AF063936;AI740721;AK095529;AMYH02030626;BC042054;BC067107;BX389424;CB988291;CH471082;NM_004884 AAD13399;AAH42054;AAH67107;BAG53078;EAW77722;NP_004875;Q8IVU1 Hs.128292 1697808;1710506;1795018;1848290;2160342 L18066;PMC87320P1;RH102428;SHGC-86276;WI-14920 HsT18880;PUNC OTTHUMP00000164177;immunoglobulin superfamily DCC subclass member 3;putative neuronal cell adhesion molecule protein-coding ENSG00000174498 HGNC:9700 09169 604184 VALIDATED 1351192 IGES immunoglobulin E concentration, serum 8178175 3478 HGNC:5463 147061 1602692 IGDCC4 immunoglobulin superfamily, DCC subclass, member 4 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 15 15 15 q22.31 42551953 42593550 - 65673825 65715410 - 65381484 65423072 - 6480464;8554872 10708514;10997877;12477932;15174051;18029348;20139978;20658536 57722 Q8TDY8 AB046848;AB052622;ABBA01038854;AC105129;AK124045;AMYH02030626;AMYH02030627;AMYH02030628;BC040648;CH471082;NM_020962;XM_006720622 AAI52806;BAB13454;BAB86306;EAW77723;EAW77724;EAW77725;NP_066013;Q8TDY8;XP_006720685 Hs.458607 1650390;1707624;1853713;2155270;2155272;2176964;2181688;5092840 A006J15;A006J37;A007C09;G20868;G32363;SHGC-84628;WI-18508;WI-21066 DDM36;FLJ42051;KIAA1628;NOPE;hDDM36 OTTHUMP00000164176;immunoglobulin superfamily DCC subclass member 4;likely ortholog of mouse neighbor of Punc E11;neighbor of Punc E11 protein-coding ENSG00000103742 HGNC:13770 11399 PROVISIONAL 68997 IGF1R insulin-like growth factor 1 receptor This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] 15 15 15 q26.3 75609678 75924704 + 99192272 99507759 + 98649047 98964530 + 1624299;1580863;1581313;1626333;2311504;2306690;2311509;2311524;2311503;2311502;2311505;2311506;2317640;2317642;2317645;2317652;2317649;2317651;4142788;5686435;5686420;5686429;6480464;5686434;5686433;5686413;5686432;5686431;6484113;6907045;7242794;7242902;7242905;7242908;7242915;7242921;7242922;7240710;7242789;7242795;7242846;7242847;7242068;8554872;8699517 10990448;14506643;14559833;14627343;14657428;14760498;15272025;15862547;15867218;16575403;16642022;16750336;17121898;17447016;17476475;17686258;17952403;18477064;18562769;18676006;18801929;18832736;18938767;18986336;19484445;19509240;19703168;19732452;19885860;20042609;20409077;20555424;20864405;21047277;21047775;22529373;9215294;9767523 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3480 C9J5X1;H0YLE7;H0YMJ5;H0YNR0;H3BSZ8;P08069 AB425196;ABBA01020562;ABBA01020563;ABBA01020564;ABBA01020565;ABBA01020566;ABBA01020567;AC055807;AC069029;AC118658;AC118660;AF020763;AK310188;AMYH02031142;AY332722;AY429545;BC010607;BC078157;BC088377;BC107089;BC111046;BC113610;BC113612;BC143721;BM264223;BQ185364;BX093045;CH471101;CN414655;CS238517;DA486252;DR007209;EU826611;EU826612;M69229;NG_009492;NM_000875;NM_001291858;X04434;XM_005254896;XM_005254897;XM_006720486;XM_006720487 AAB59399;AAB97676;AAI07090;AAI13611;AAI13613;AAI43722;AAP81165;ACF47647;ACF47648;BAG11657;CAA28030;CAJ55819;EAX02220;EAX02221;EAX02222;NP_000866;NP_001278787;P08069;XP_005254953;XP_005254954;XP_006720549;XP_006720550 Hs.643120;Hs.714012 1657084;1660962;1665454;1667499;1676218;1679050;1681793;1682804;1693612;1707146;1712645;1715435;1717143;1741971;1765491;1767715;1783274;1847542;1856779;2113860;2113862;2121723;2131273;2137439;2155470;2170497;2187331;5492673 AFMa305ye1;D15S906;FAH;G17859;GDB:187366;IGF1R;RH120174;RH120855;RH121492;RH15697;RH44703;RH48245;RH69514;RH70207;RH76769;RH77818;RH92510;RH94329;RH94360;SHGC-148975;SHGC-156036;SHGC-34685;SHGC-58525;SHGC-81342;STS-T85175;UniSTS:481973;WI-20575;WI-21793 CD221;IGFR;JTK13;MGC142170;MGC142172;MGC18216 IGF-I receptor;IGFIR;OTTHUMP00000194784;insulin-like growth factor I receptor;soluble IGF1R variant 1;soluble IGF1R variant 2 APPROVED protein-coding ENSG00000140443 HGNC:5465 00932 147370;270450 REVIEWED 70506 IGF1 insulin-like growth factor 1 (somatomedin C) The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] 12 12 12 q23.2 102453601 102538345 - 102789645 102875563 - 102395867 102480600 - 1580477;1580863;1598411;1598413;1598415;1598420;1582623;1598442;1598445;1598446;1598454;1598419;1598421;1598422;1598423;1598424;1598425;1598426;1598427;1624297;1580473;1580474;1626121;1626333;2313764;2313765;2313767;2313768;2313769;2311504;2306694;2306696;2306687;2306697;2306713;2306715;2306690;2306671;2306688;2311502;2317639;2317643;2306689;2317647;4142788;6480464;6484113;6907045;7240710;8548825;8548826;8548828;8548875;8548827;8548833;8549454;8548876;8549460;8549492;8549457;8548834;8549453;8548854;8548865;8548837;8549489;8549452;8549500;8548877;8548829;8548823;8548852;8549356;8549456;8549490;8549491;5508806;8549497;8549499;8549455;8548883;8548849;8548867;8548838;8548824;8548880;8549462;8554872;8699517 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3479 P05019;Q13429;Q59GC5;Q5U743 AB209184;ABBA01053227;ABBA01053228;ABBA01053229;AC010202;AC068648;AK312231;AMYH02027078;AY260957;AY790940;BC148266;BC152321;CH471054;CR541861;GN335338;M11568;M12659;M14155;M14156;M27544;M29644;M37484;NG_011713;NM_000618;NM_001111283;NM_001111284;NM_001111285;S85346;U40870;X00173;X03420;X03421;X03422;X03563;X56773;X56774;X57025;XM_005268835 AAA52537;AAA52538;AAA52539;AAA52543;AAA52787;AAA52789;AAA96152;AAB21519;AAI48267;AAI52322;AAI60082;AAO74829;AAV40833;BAD92421;BAG35164;CAA24998;CAA27152;CAA27153;CAA27154;CAA27250;CAA40092;CAA40093;CAA40342;CAG46659;CAY39134;EAW97695;EAW97696;EAW97697;EAW97698;NP_000609;NP_001104753;NP_001104754;NP_001104755;P05019;XP_005268892 Hs.160562 1655300;1656916;1741543;1744007;1796062;1849723;1851332;2127240;2140798;2143651;2154302;2158178;5090928;5093282;5126497 A009K41;D12S1074;D12S1103;D12S1962;D12S2023;G10727;G32627;GDB:181478;GDB:384821;IGF1;IGF1_1346;RH18058;RH77802;WI-18971;WI-21639 IGF-I;IGF-IA;IGF-IB;IGF1A;IGFI;MGF OTTHUMP00000195080;OTTHUMP00000195081;OTTHUMP00000195082;OTTHUMP00000195083;OTTHUMP00000195084;insulin-like growth factor 1;insulin-like growth factor I;insulin-like growth factor IA;insulin-like growth factor IB;mechano growth factor;somatomedin-C 1643258;1643266;1643270;1643277;1643452;2289513 BW104_H;BW198_H;BW201_H;BW203_H;BW205_H;BW449_H APPROVED protein-coding ENSG00000017427 HGNC:5464 00936 147440;608747 REVIEWED 1344250 IGF2-AS IGF2 antisense RNA This gene expresses a paternally imprinted antisense transcript of the insulin-like growth factor 2 gene. The transcript is overexpressed in Wilms' tumor. This gene is predicted to be non-coding because the predicted protein is not conserved in any other species and the majority of transcripts would be candidates for non-sense mediated decay (NMD) if a protein were expressed. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 11 11 11 p15.5 2198265 2206401 + 2161758 2169896 + 2140528 2148666 + 6480464;8554872 10731720;11181995;12477932;12603530;12702581;17289909;17554260;17632545;18676680;19170196;19625176;19692168;19767753;19913121;19948975;20564319;20628086;20819778;21829393;23193016;24824313 51214 Q6U949 AB030733;ABBA01032100;AC132217;AL521915;AL545164;AMYH02024186;AY149295;AY149296;AY375532;BC136585;BC142634;BC142691;CH471158;HG503447;NG_008849;NR_028043;NR_028044 AAI36586;AAI42635;AAI42692;AAP50262;AAP50263;AAQ86595;BAA90470;EAX02487;Q6U949 Hs.716962 1771016;1802614;1803714;1804074;1804292;1804294;1804500;1807618;1811798;1812168;1813472;1821198;2091522;2091524;2091526;2091528;2091530;2091532;2091534;2091536;2091538 ECD02194;ECD02763;ECD02954;ECD03070;ECD03071;ECD03179;ECD04781;ECD06903;ECD07090;ECD07757;ECD11676;IGF2;REN117041;REN117042;REN117043;REN117044;REN117045;REN117046;REN117047;REN117048;REN117049 IGF2-AS1;IGF2AS;MGC168198;PEG8 APPROVED ncrna ENSG00000099869 HGNC:14062 10000 610146 VALIDATED 737149 IGF2 insulin-like growth factor 2 This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 11 11 11 p15.5 2186838 2207338 - 2150346 2179611 - 2129117 2149603 - 1624301;1580863;1626333;2290454;2311513;2311523;2311512;2311502;2311511;2292665;2311520;2311504;5509967;5509973;5509974;5510000;5510001;5510004;5509948;5509963;5509966;5510002;5510007;5510023;5509951;5509961;5509964;5509968;5509971;5509972;5510014;5510017;5509969;5509999;5509960;5510005;5510019;5510022;6480464;7240710;8554872 10417663;10686593;10727441;11123717;11213353;11232005;11247331;11307180;11448941;12548059;12927688;15862547;16088202;16477536;16627931;16787587;17184497;17476475;17554210;17556377;18418699;18421211;18478565;18505416;18676006;18719053;18724775;18778817;19556211;20683203;20683839;21859454;7521338;7770004;8764603;9160836;9336345 10084601;10336724;10342887;10407151;10512690;10611375;10731720;10810289;10884343;11049980;11500939;11522816;11600567;11749962;11793026;11811790;11849996;11889182;11903044;11937266;11969341;12005306;12006706;12032304;12075589;12125963;12127559;12138094;12243757;12270940;12388463;12446294;12477932;12519841;12532445;12548223;12558805;12575534;12579496;12586351;12605037;12610512;12637750;12700030;12702581;12719950;12727212;12732844;12765950;12782403;12804776;1282023;12881524;13679437;14614750;14645199;14645508;14695992;14710345;14718574;14749262;14749349;14764950;1486331;14996863;15003992;15140223;15163116;15181035;15191555;15205474;15217931;15298990;15342556;15355996;15359740;15471867;15489334;15498874;15528386;15621215;15642732;15645136;1569071;15694994;15701574;15706404;15731405;15769738;15797461;15799974;15809062;15935984;15954927;15956340;15970649;15987847;16018936;16037384;16040806;16102992;16115888;16166779;16247461;16251897;16303743;16330588;16344560;16344718;16489075;16518847;16525660;16531418;1656956;16603642;16612114;16716263;16750516;1684848;16857788;16868148;16888814;16926156;16935391;17029194;17072986;1714916;17285535;17289909;17294726;1730789;17310846;17325026;17339271;1733942;17341887;17360667;17369847;17407457;17440932;17475626;17488802;17554260;17560154;17569086;17591929;17620336;17632545;17635080;17639583;17640993;17667841;17700581;17786320;17919721;17972051;18006818;18022169;18035699;18085551;18159214;18199734;18245780;18259111;18287964;18297687;18308616;18349294;18350600;18358696;18372285;18428028;1845984;18464243;18467708;18481170;18520331;18524796;18537183;18541649;18562769;18573128;18604514;18607558;18611974;18616667;18619647;18636124;18676680;18701505;18728168;18772331;18786438;18788888;18794369;18803353;18832656;18931647;18955703;18980977;19034281;19064563;19064572;19066168;19121847;19124506;19127217;19170196;19207313;19208780;19218281;19242102;19259766;19276395;19293570;19317253;19333718;19336370;19365888;19367319;19390492;19407853;19417744;19421925;19427670;19453261;19499149;19502451;19513555;19546867;19549920;19560381;19584898;19586133;19588890;19598235;19625176;19672298;19689072;19692168;19713175;19724140;19737423;19749460;19767753;19769965;19786462;19843644;19876004;19913121;19919531;19924280;19938957;19948975;19950580;19953105;19956766;19956846;19957330;19962924;20007505;20010889;20027339;20042264;20057340;20089431;20119675;20157191;20206398;20301471;20301499;20301568;20338046;20364576;20388800;20403354;20403997;20416304;20418667;20422427;20427254;20443017;20452482;20453000;20468064;20472480;20479215;20483645;20484977;20540659;20564319;20592487;20628086;20634197;20637510;20639793;20651370;20661447;20673868;20709701;20734064;20842449;20861572;20884247;20929508;20937833;20945273;21078522;21109978;21164426;21238444;21251749;21268128;21278389;21282187;21380782;21410323;21432864;21506705;21535266;21536749;21548981;21576258;21613208;21636975;21668571;21672538;21704210;21708937;21733157;21744995;21757716;21761181;21798010;21805044;21823995;21829393;21852217;21880216;21889930;21900206;21926269;22042095;22069105;22082268;22098246;22121898;22140443;22188815;22189999;22242132;22245250;22248018;22253814;22253890;22309801;22341586;22347413;22372631;22377707;22392079;22395465;22399759;22434232;22447362;22479380;22486985;22527168;22565227;22571677;22630333;22646060;22662119;22666415;22679513;22684773;22770937;22800756;22879348;22893718;22902352;22907587;22926517;22982059;22994732;23023303;23028800;23035551;23039012;23047069;23079385;23079386;23118352;23151531;23166326;23171475;23207153;23227253;23257688;23299523;23319492;23363476;23388414;23410103;23479510;23485847;23497056;23530192;23539881;23558990;23593202;23620526;23623986;23677070;23690138;23714241;23725790;23750643;23757053;23775149;23844573;23890452;23936387;23962719;24112161;24182837;24184209;24266751;24349121;24380854;24407433;2450353;2465304;24725430;24804818;24846856;24883437;24886724;24904527;24916376;24972507;24986528;25001656;25066218;25068994;2722836;3002851;3167054;3476948;3569524;3652904;3653397;3683205;3881277;6189745;6382021;6382022;658418;7527339;7680905;7683646;7730145;7797478;8298652;8385745;8424751;8547330;8589713;8781553;8889548;8939990;8968759;9144427;9446566;9497324;9722589;9722981;9972281 3481 E3UN46;P01344 AA040827;ABBA01032100;ABBA01032101;ABBA01032102;ABBA01032103;AC132217;AF318382;AF517226;AK025719;AK126688;AK313938;AMYH02024185;AMYH02024186;AY971350;BC000531;BC011786;BC042127;BC053318;BC073756;BE270173;BM667567;BP233290;BQ014465;BT007013;CH471158;CN277570;DA641853;DQ104203;FB571441;GM741469;HM481219;HM481220;J03242;M17426;M17863;M22373;M29645;NG_008849;NM_000612;NM_001007139;NM_001127598;NM_001291861;NM_001291862;S51971;S77035;X00910;X03425;X03426;X03427;X03562;X06159;X06160;X06161;X06259;X07868 AAA52443;AAA52536;AAA52544;AAA52545;AAA60088;AAB34155;AAD14908;AAH00531;AAL55889;AAM51825;AAP35659;AAY40360;ABD93451;ABM83647;ABM86896;ADO21454;ADO21455;BAG36657;BAG54360;CAA25426;CAA27155;CAA27156;CAA27157;CAA27249;CAA29516;CAA29517;CAA29518;CAA30717;CAR95138;CAV31678;EAX02485;NP_000603;NP_001007140;NP_001121070;NP_001278790;NP_001278791;P01344 Hs.272259 1655215;1694890;1732213;1741963;1744237;1744849;1771016;1777015;1791768;1792486;1792488;1793412;1798842;1798914;1799502;1800260;1802614;1803652;1803714;1804022;1804074;1804292;1804294;1804344;1804500;1806070;1807618;1808386;1809490;1811798;1812168;1812452;1813472;1814778;1821198;1841096;1847598;2091402;2091404;2091406;2091408;2091410;2091412;2091414;2091416;2091418;2091420;2091422;2091424;2091426;2091428;2091430;2091472;2091478;2091546;2127230;2156096;5014051;5118045;7187505 A002D21;D11S4734;D8S2278;ECD00261;ECD00298;ECD00602;ECD00988;ECD02194;ECD02732;ECD02763;ECD02927;ECD02954;ECD03070;ECD03071;ECD03096;ECD03179;ECD03988;ECD04781;ECD05174;ECD05737;ECD06903;ECD07090;ECD07233;ECD07757;ECD08420;ECD11676;ECD21742;G44328;GDB:187027;GDB:438178;GDB:572840;GDB:677440;IGF2;PMC124986P1;PMC151856P1;PMC151856P2;PMC21842P3;REN116981;REN116982;REN116983;REN116984;REN116985;REN116986;REN116987;REN116988;REN116989;REN116990;REN116991;REN116992;REN116993;REN116994;REN116995;REN117016;REN117019;REN117053;SGC35182;STS-H87011;STS-S77035;WI-14149 C11orf43;FLJ22066;FLJ44734;IGF-II;PP9974 INSIGF;OTTHUMP00000011012;OTTHUMP00000011013;OTTHUMP00000011015;OTTHUMP00000011018;OTTHUMP00000011157;OTTHUMP00000011158;OTTHUMP00000220677;insulin-like growth factor 2;insulin-like growth factor 2 (somatomedin A);insulin-like growth factor II;insulin-like growth factor type 2;putative insulin-like growth factor II associated protein;somatomedin A;somatomedin-A APPROVED protein-coding ENSG00000167244 HGNC:5466 00939;17410 147470 REVIEWED 1606569 IGF2BP2 insulin-like growth factor 2 mRNA binding protein 2 This gene encodes a member of the IGF-II mRNA-binding protein (IMP) family. The protein encoded by this gene contains four KH domains and two RRM domains. It functions by binding to the 5' UTR of the insulin-like growth factor 2 (IGF2) mRNA and regulating IGF2 translation. Alternative promoter usage and alternate splicing result in multiple variants encoding different isoforms. [provided by RefSeq, May 2014] 3 3 3 q27.2 183799612 183980726 - 185361527 185542827 - 185643739 185825050 - 6480464;7240710;8554872 10190901;12477932;12674497;12849008;15064750;15225648;15601260;15618018;16049158;17289661;17296566;17314511;17353931;17426251;17463246;17463248;17463249;17620599;17643375;17804762;17827400;17928989;18162508;18259684;18372903;18426861;18430866;18443202;18469204;18477659;18516622;18544707;18591388;18597214;18598350;18618095;18633108;18694974;18711366;18719881;18853134;18984664;18991055;19002430;19008344;19018773;19020323;19020324;19033397;19082521;19135240;19139842;19148120;19225753;19228808;19247372;19258404;19258437;19279076;19322201;19401414;19502414;19592620;19602701;19720844;19726068;19738201;19741166;19741467;19794065;19808892;19862325;19892838;19913121;19933996;20020773;20043145;20075150;20142250;20161779;20186120;20203524;20215779;20384434;20424228;20490451;20509872;20523342;20550665;20580033;20581827;20616309;20627640;20628086;20712903;20802253;20816152;20879858;20881960;20889853;20929593;20956565;21139048;21145461;21145819;21282530;21422097;21573907;21576258;21771882;21839790;21890473;21906983;22015911;22032244;22053931;22096510;22233651;22245690;22427968;22505724;22581228;22586326;22623428;22693455;22770937;22899010;22923468;22939629;23000965;23029108;23125841;23144361;23257922;23300278;23364967;23403707;23418049;23421499;23455922;23536553;23656854;23670970;23945395;24229666;24255178;24550385;24814803;9891060 10644 B3FTN5;B4DKT5;F8W930;Q9Y6M1 AA451676;ABBA01058402;ABBA01058403;ABBA01058404;ABBA01058405;ABBA01058406;ABBA01058407;ABBA01058408;ABBA01058409;AC016961;AC108670;AF117107;AI336648;AI348863;AK290664;AK296703;AK309611;AMYH02008333;AMYH02008334;AW193691;BC021290;BX537583;CD110066;CH471052;EU408701;EU408702;EU408703;EU408704;GN341812;NG_011602;NM_001007225;NM_001291869;NM_001291872;NM_001291873;NM_001291874;NM_001291875;NM_006548;XM_006713477;XM_006713478;XR_427358 AAD09827;AAH21290;ABM83087;ABW03490;ACB86625;ACB86626;ACB86627;ACB86628;BAF83353;BAG59297;CAY39325;EAW78209;EAW78210;EAW78211;NP_001007226;NP_001278798;NP_001278801;NP_001278802;NP_001278803;NP_001278804;NP_006539;Q9Y6M1;XP_006713540;XP_006713541 Hs.35354 1338595;1646093;1682269;1700202;1853549;1854879;2120784;2139559;2182172;5019773 A009S09;D3S1530;D3S4205;G32801;RH103717;RH11318;RH12864;RH44937;RH70408;SHGC-77627 IMP-2;IMP2;VICKZ2;p62 IGF-II mRNA-binding protein 2;IGF2 mRNA-binding protein 2;OTTHUMP00000082606;OTTHUMP00000082607;OTTHUMP00000082608;VICKZ family member 2;hepatocellular carcinoma autoantigen p62;insulin-like growth factor 2 mRNA-binding protein 2 APPROVED protein-coding ENSG00000073792 HGNC:28867 10507 125853;608289 REVIEWED 1606571 IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1 This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 17 17 17 q21.32 43529020 43588502 + 47074774 47133507 + 48997412 49056145 + 6480464;8554872 10850408;10875929;11973350;11992722;12024010;12532419;12777385;12921532;14702039;14767552;15121863;15159028;15282548;15314207;15342556;15355996;15601260;15769738;16049158;16196087;16306994;16344560;16356927;16541107;16778892;16964243;17081983;17101699;17203973;17212783;17255263;17289661;17296566;17314511;17353931;17546046;17620599;17643375;17932509;18029348;18252897;18385235;18454174;18490442;19029303;19038974;19167051;19541769;19647520;19661680;19726068;19738201;19887615;19893574;20195514;20308539;20360068;20459747;20627640;20639865;20819778;21081666;21139048;21145461;21209918;21252116;21282530;21618519;21642987;21706016;21890473;21906983;21981993;22053931;22125086;22266909;22268729;22279049;22505724;22623428;22939629;22983196;23038779;23125841;23398456;23443559;23535732;23704328;23728852;23824909;23825951;23911878;24244333;24395596;24397586;24468749;24550385;24816145;8132663;9801297;9891060 10642 Q9NZI8 ABBA01041188;ABBA01041189;AC091133;AC105030;AF117106;AF198254;AK022617;AK022784;AK074915;AK095573;AK313229;AMYH02033556;AMYH02033557;AMYH02033558;BP238821;CH471109;DA758608;DQ227344;NG_030585;NM_001160423;NM_006546;XM_005256955 AAD09826;AAF37203;AAI52771;AAI56958;ABB46294;BAG36040;BAG52029;EAW94693;EAW94694;EAW94695;EAW94696;NP_001153895;NP_006537;Q9NZI8;XP_005257012 Hs.144936 1667217;1668909;1678475;1758395;1772404;1783546;2145745 RH16179;RH35899;RH91858;SGC34830;SHGC-148228;SHGC-154117;WI-4369 CRD-BP;CRDBP;IMP-1;IMP1;VICKZ1;ZBP-1;ZBP1 IGF II mRNA binding protein 1;IGF-II mRNA-binding protein 1;IGF2 mRNA-binding protein 1;OTTHUMP00000219840;OTTHUMP00000219841;VICKZ family member 1;coding region determinant-binding protein;insulin-like growth factor 2 mRNA-binding protein 1;zip code-binding protein 1;zipcode-binding protein 1 APPROVED protein-coding ENSG00000159217 HGNC:28866 09752 608288 REVIEWED 1606570 IGF2BP3 insulin-like growth factor 2 mRNA binding protein 3 The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008] 7 7 7 p11 23336115 23496228 - 23349828 23509995 - 23310209 23470491 - 6480464;8554872 10525192;11465943;11992722;12161597;12477932;12690205;12921532;15489334;15601260;15644775;15753088;15851029;16049158;16196087;16339295;16541107;16814207;17192788;17289661;17296566;17316760;17353931;17521698;17643375;17784873;17885673;18029348;18204432;18223334;18260086;18337447;18347170;18499984;18618724;18781797;18802962;18835627;19047899;19136932;19192721;19322201;19357927;19426599;19427669;19449140;19467694;19620937;19672661;19695680;19698973;19738201;19788446;19913121;20004948;20178612;20360068;20379614;20382408;20472848;20562850;20591150;20627640;20628086;20881960;21139048;21145461;21150319;21282530;21319273;21414819;21436679;21469424;21497449;21566519;21566520;21613208;21694464;21757716;21809994;21838610;21890473;21906983;21917080;21987572;21997684;22012575;22042095;22053931;22166630;22266872;22268729;22431320;22495359;22497850;22505724;22555177;22586326;22627630;22840368;22859271;22863883;22879911;22939629;23079206;23108021;23125841;23159356;23190601;23226335;23246869;23269460;23382691;23443559;23455922;23465280;23473990;23539627;23549465;23563607;23570281;23584203;23597774;23647076;23661345;23752268;23806529;23837977;23845468;23903073;24147044;24343741;24411949;24457969;24550385;24778252;24816145;25015289;9178771;9891060 10643 F8WD15;O00425 ABBA01056704;ABBA01056705;ABBA01056706;AC005082;AC021876;AC079780;AF117108;AMYH02015361;AMYH02015362;AMYH02015363;AMYH02015364;BC019258;BC051296;BC065269;BX640800;BX648488;CH236948;CH471073;CS805584;NM_006547;U76705;U97188;XM_006715638;XM_006715639 AAC35208;AAD09223;AAD09828;AAH65269;CAE45883;CAH56186;CAP40171;EAL24257;EAW93786;EAW93787;NP_006538;O00425;XP_006715701;XP_006715702 Hs.700696 1651302;1660097;1728599;1852290;2133466;2138344;2149806;2156766;5015861;5024563;5024638;5037552;5093130;7185938 A009H11;AFMa044zb5;D10S16;D8S2279;G32538;G63591;GDB:4585511;RH18504;RH36584;RH65486;SGC34281;SHGC-58242;STS-R78376 CT98;DKFZp686F1078;IMP-3;IMP3;KOC;KOC1;VICKZ3;hKOC IGF II mRNA binding protein 3;IGF-II mRNA-binding protein 3;IGF2 mRNA-binding protein 3;KH domain containing protein overexpressed in cancer;KH domain-containing protein overexpressed in cancer;OTTHUMP00000158561;VICKZ family member 3;cancer/testis antigen 98;insulin-like growth factor 2 mRNA-binding protein 3 APPROVED protein-coding ENSG00000136231 HGNC:28868 16306 608259 REVIEWED 1602599 IGF2BP2-AS1 IGF2BP2 antisense RNA 1 3 3 3 q27.2 183868956 183873871 + 185431040 185435955 + 185713252 185718167 + 12477932;14702039 646600 F8WDD8;Q96M15 ABBA01058406;AC016961;AC108670;AK057462;AMYH02008333;BC039525;BC041450;BC137313;BC137314;CH471052;NG_011602;NR_027317 BAB71499;EAW78212;Q96M15 Hs.647949;Hs.737101 C3orf65;FLJ32900 APPROVED ncrna ENSG00000163915 HGNC:32674 VALIDATED 68640 IGFALS insulin-like growth factor binding protein, acid labile subunit The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 16 16 16 p13.3 2052696 2057191 - 1840414 1844909 - 1790413 1794908 - 1624335;1580863;1626121;1626333;6480464;7240710 14762184;15521962;15862547 10512690;10650966;10823924;11591653;11914026;12364447;12477932;1379671;1384485;14718574;15126567;15616553;16114275;16335952;16344560;16404426;17063263;17546465;17726072;18029348;18303074;18349294;18362293;18463107;18676680;19056867;19129715;19170196;19207313;19453261;19625176;19729943;20142246;20155489;20302654;20591980;20634197;20734064;20810604;20943791;21177759;21216879;21664162;22678306;22689435;24335034;24423360;2473065;9446566;9497324;9786878 3483 H3BSX8;P35858;Q8TAY0 ABBA01030296;AC012180;AF192554;AK292182;AK303146;AK313198;AK315808;AL031724;AMYH02031235;BC025681;CH471112;DA642067;M86826;NG_011778;NM_001146006;NM_004970;NR_027389 AAA36047;AAF06774;AAH25681;ABM82460;ABM85649;BAF84871;BAF98699;BAG36014;BAG64250;CAC36078;EAW85612;NP_001139478;NP_004961;P35858 Hs.839 1796066;2119531 D16S2960;IGFALS_349 ACLSD;ALS OTTHUMP00000158804;insulin-like growth factor binding protein complex acid labile chain;insulin-like growth factor-binding protein complex acid labile subunit APPROVED protein-coding ENSG00000099769 HGNC:5468 03290 601489;615961 REVIEWED 732660 IGF2R insulin-like growth factor 2 receptor This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate, although the binding sites for either are located on different segments of the receptor. This receptor functions in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. While the related mouse gene shows exclusive expression from the maternal allele, imprinting of the human gene appears to be polymorphic, with only a minority of individuals showing expression from the maternal allele. [provided by RefSeq, Apr 2013] 6 6 6 q26 161035974 161173355 + 160390131 160527583 + 159969099 160106551 + 1581739;1624323;737793;1580863;1298968;2311502;2311514;2311519;2311611;2311622;2311623;2311630;2311631;6480464;7242956;7240710;8699517;8554872 12503077;15057872;15333144;15531531;16672920;16868148;18441505;18676006;7493029;8001817;8649861;9070652;9652747 10358067;10799489;10829017;10900005;10908666;11081635;11331585;11359012;11387475;11387476;11390366;11438990;11811790;11859375;11859376;11867533;11913773;12005306;12021353;12032303;12032548;12060753;12127559;12149131;12165733;12223346;12399424;12543777;12586773;12603530;12665524;12736721;12754519;12857727;12934103;12959977;1370435;1380437;14567678;14574404;14710346;15003389;15078902;15117318;15156403;15167696;15181035;15258139;15506681;15782153;16135791;16172012;16179614;16304558;16977309;17069798;17081983;17101778;17149973;17407457;17475626;17507477;17620336;17676485;17684144;17850746;17927214;18029348;18037232;18174267;18322954;18434368;18562769;18596235;18602895;18604514;18611974;18616667;18636124;18676680;18789384;18832656;19010793;19037107;19056867;19064572;19074885;19170196;19195023;19208780;19236480;19240061;19322201;19400954;19414391;19435860;19453261;19487139;19578796;19615732;19625176;19626700;19692168;19738201;19789190;19946888;20104244;20110184;20119675;20302654;20347606;20416304;20452482;20453000;20634197;20639793;20644561;20673868;20734064;20889566;20980691;21139048;21195083;21627551;21761181;21852217;21895964;22082268;22268729;22336232;22377707;22486879;22521359;22586326;22613725;22623531;22681933;22907655;22939629;23000965;23071652;23227253;23275563;23347038;23539881;23686499;23984879;24014609;24024966;24275455;2957598;2963003;7511544;7753549;7797478;8111387;8162705;8220428;8267611;8595419;8824797;9361090;9362483;9566979;9590177;9695949;9722981;9892739 3482 P11717;Q59EZ3;S4R328 AB209668;ABBA01021058;AF069333;AF109291;AK300848;AL035691;AL353625;AMYH02014876;AMYH02014877;AMYH02014878;AY293855;CH471051;J03528;NG_011785;NM_000876;X83701;X91880;Y00285 AAA59866;AAF16870;AAI72256;AAL04402;AAP37954;BAD92905;BAG62499;CAA58674;CAA68395;EAW47607;NP_000867;P11717 Hs.487062 1704628;1707090;1741947;1742347;1778798;1793570;1793572;1793574;1793576;1793578;1793580;1793582;1793584;1796064;1850700;1856434;2162767;2186184 D6S2075;G10508;GDB:186982;GDB:196396;IGF2R_744;PMC23366P1;PMC23366P2;PMC23366P3;PMC23366P4;PMC23366P6;PMC23366P7;PMC23366P8;PMC23366P9;RH1530;RH35870;SHGC-77905;SHGC-81303;WI-9022 CD222;CI-MPR;CIMPR;M6P-R;M6P/IGF2R;M6PR;MPR 300;MPR1;MPRI 300 kDa mannose 6-phosphate receptor;CI Man-6-P receptor;IGF-II receptor;M6P/IGF2 receptor;OTTHUMP00000017536;cation-independent mannose-6 phosphate receptor;cation-independent mannose-6-phosphate receptor;insulin-like growth factor II receptor 2289445;2314977;2314981;2314987;2314988;2314994;2314995;2314996 BW415_H;BW515_H;GLUCO127_H;INSUL31_H;INSUL38_H;INSUL40_H;SLEP23_H;SLIPL24_H APPROVED protein-coding ENSG00000197081 HGNC:5467 00928 114550;147280 REVIEWED 737357 IGFBP2 insulin-like growth factor binding protein 2, 36kDa ENCODES a protein that exhibits insulin-like growth factor I binding; insulin-like growth factor II binding (ortholog); INVOLVED IN positive regulation of activated T cell proliferation; regulation of insulin-like growth factor receptor signaling pathway (ortholog); PARTICIPATES IN insulin-like growth factor signaling pathway; ASSOCIATED WITH Insulin Resistance; Metabolic Syndrome X; Obesity; FOUND IN extracellular space; extracellular vesicular exosome; extracellular region (ortholog); INTERACTS WITH (S)-nicotine; 17alpha-ethynylestradiol; 17beta-estradiol 2 2 2 q35 211266003 211297047 + 217498127 217529159 + 216633404 216664436 + 1580863;1598911;1626512;1626492;1626482;1626333;1626478;1626479;1626481;6480464;8554872 11456315;11834454;15862547;16288470;16915540;17259371;17426323;9396554 10407151;10912521;11063745;11297622;11358513;12006706;12102164;12477932;12519841;12575534;12672024;12727212;12794762;12810534;12839944;12907597;12955485;1376411;1380437;14691340;14710363;14744083;15147770;15171717;15489334;15643522;15651061;15661050;15686601;15694994;15735679;15932773;15956340;15994346;16183342;16306230;16444283;16543235;16569642;16884361;16893667;16901920;1697583;17020769;17071580;17072950;1710112;17102589;17113753;1712312;1714916;1716260;1726837;17280861;17285230;17289850;17341887;17352648;17369847;17372210;17395163;17475624;17485236;17606927;17655506;17827400;17970029;17985932;18210030;18210156;18217408;18259111;18373644;18437351;18461161;18524796;18556354;18676680;18952587;18953566;18980989;19064572;19081843;19095771;19124510;19127217;19164435;19170196;19276395;19324937;19453261;19625176;19679880;19692168;19764562;19843326;19845745;19846739;19862325;19877176;19948975;19956906;19962924;20150439;20306690;20370577;20468064;20514406;20515648;20541521;20634197;20730703;20731527;20734064;20810604;20819778;20858761;21304397;21339190;21899885;21951978;21972778;21988832;22242132;22253890;22277732;22293585;22345562;22459634;22527168;22554827;22555360;22571677;22623219;22672618;22869145;23071652;23165420;23233738;23291564;23397525;23435424;23515291;23714241;23767917;23959956;24051179;24069370;24130049;24275430;24352760;2465304;24682597;2479552;7511544;7680905;8675597;8781553;9156044;9408744 3485 C9JMY1;C9JW52;H7C1H0;P18065 A09809;AB209509;ABBA01062821;ABBA01062822;AC007563;AC073321;AL559513;AMYH02005762;AMYH02005763;AY398667;BC004312;BC009902;BC012769;BC071967;CH471063;HI574226;M35410;M69241;NM_000597;S37730;X16302 AAA03246;AAA36048;AAB22308;AAH04312;AAH09902;AAH12769;AAH71967;AAQ87876;AAY14661;AAY15079;ABM84376;ABW03553;BAD92746;CAA00862;CAA34373;CBX47602;EAW70573;NP_000588;P18065 Hs.438102 1677614;1687089;1711442;2113582;2119736;5014039;5037552 D22S1584;D8S2279;IGFB2;RH79685;RH91510;STS-M35410;bovineIGFBP2 IBP-2;IBP2;IGF-BP53;IGFBP-2 IGF-binding protein 2;OTTHUMP00000207751;OTTHUMP00000207753;insulin-like growth factor binding protein 2;insulin-like growth factor-binding protein 2 protein-coding ENSG00000115457 HGNC:5471 00898 146731 VALIDATED 69038 IGFBP1 insulin-like growth factor binding protein 1 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008] 7 7 7 p12.3 46026880 46032188 + 45927959 45933267 + 45888360 45893668 + 1625238;1580863;1626333;2301716;2301715;6480464;6484113 10069662;15862547;16306374;17287408 10329650;10350456;10352394;10364674;10407151;10691413;10810289;10965886;10987657;11050672;11297622;11397868;11752456;11762714;11793026;11834727;11956162;11969341;11972304;12006706;12082253;12119297;12135130;12150454;12153746;12163461;12351482;12466191;12477932;12489207;12493691;12519841;12556485;12571183;12679458;12690205;12746292;12746836;12843178;12843192;12853948;12861174;12870155;12882925;12933666;1373120;14568572;14624764;14715837;14718574;14726451;14764802;15070833;15070959;15166120;15489334;15598684;15613433;15736102;15797461;15890677;15959422;15972819;15987820;15987847;16002526;16041536;16118248;16222695;16293667;16337840;16338475;16404426;16687408;16776662;16809446;16868142;1691735;16924115;16973813;1701175;17035411;17062566;17113753;17164371;1718783;17264182;17300730;17341623;17465992;17485842;17566087;17634530;17640761;17655506;17803702;17890489;17914103;17972051;17972510;18166823;18259111;18305566;18496669;18513511;18596909;18636124;18665784;18676680;18701096;18772238;18793810;18828733;18924579;19064572;19124510;19158202;19170196;19193607;19308628;19434535;19453261;19463807;19539506;19551864;19625176;19692168;19730683;19732896;19765076;19843326;19858071;19913121;19917654;19948975;20039319;20102313;20143870;20144192;20149700;20155489;20413521;20416304;20453000;20484221;20587581;20628086;20634197;20637724;20711952;20731527;20734064;20810604;20884247;20885978;21078522;21104586;21140206;21156761;21198359;21212012;21247237;21378090;21457161;21521316;21741060;21852217;21892205;21930730;21933314;21940708;22072736;22104117;22113073;22187946;22239027;22325929;22357965;22442270;22554827;22745191;22843786;22894543;23095194;23183724;23190203;23354097;23377640;23408645;23585335;23603247;23815140;23942851;24056811;24132762;24248464;2454104;2457513;2458522;2461294;2466665;2474129;2478445;24919336;2849945;2971653;3419931;7504269;7678248;7683522;7683525;7694877;8754754;9408744 3484 C9J6H2;C9JXF9;P08833 ABBA01058254;ABBA01058255;AC091524;AK314925;AMYH02015643;AV695706;AY434089;BC035263;BC057806;BT019685;CA429917;CH236958;CH471128;CS138146;FJ795026;HC007038;HI179158;M20841;M23592;M23593;M23594;M23595;M31145;M59316;M74587;NM_000596;X12385;X13405;X15002;Y00856 AAA52540;AAA52542;AAA52783;AAA52784;AAA52785;AAH35263;AAH57806;AAQ96599;AAS07553;AAV38491;ACO37638;BAG37433;CAA30942;CAA31771;CAA33110;CAA68770;CAJ21549;CBH19324;CBX53887;EAL23800;EAW61030;EAW61031;NP_000587;P08833 Hs.642938 1712256;1743839;1774300;1780372;1780374;1780376;1780378;1780380;1787962;1787964;1790709;2124692;2158331;2174943;2179194 G15906;G54036;G67139;G67140;G67141;G67142;G67143;G67173;G67174;GDB:374628;IGFBP1;IGFBP1_pre_5'A;RH17691;SGC33000;SHGC-12673 AFBP;IBP-1;IBP1;IGF-BP25;IGFBP-1;PP12;hIGFBP-1 IGF-binding protein 1;OTTHUMP00000159561;OTTHUMP00000207990;OTTHUMP00000214348;OTTHUMP00000214349;alpha-pregnancy-associated endometrial globulin;amniotic fluid binding protein;binding protein-25;binding protein-26;binding protein-28;growth hormone independent-binding protein;insulin-like growth factor-binding protein 1;placental protein 12 APPROVED protein-coding ENSG00000146678 HGNC:5469 00897 146730 REVIEWED 69043 IGFBP4 insulin-like growth factor binding protein 4 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35259825 35274137 + 38599676 38613982 + 40443424 40457730 + 1580863;1626333;6480464 15862547 10407151;11052994;11068878;11297622;12163000;12193384;12241545;12477932;12733722;12904166;12970325;1370941;1375185;1377672;1380437;14705967;14767471;14996716;15062981;15146197;15146551;15204833;15489334;15661050;16540175;16586492;16685432;16924115;16973813;1704481;17070193;1707125;17071580;1709161;1709585;17177834;17312271;17824980;19025658;19038974;19453261;19956906;20628624;20634197;20654748;20734064;20810604;21166939;21207373;21274331;22134921;22246875;22332214;22689691;23079385;23455924;23499909;23563607;23603559;23975422;24060054;24201068;7507078;7511544;7680905;7683646;7689953;7778269;8648179;8889548;8964576;9138096;9275067;9408744;9615225;9722589;9751498 3487 B4E351;P22692 ABBA01031827;AC018629;AK290810;AK304572;AMYH02033400;AY442346;BC016041;BT019891;BT019892;BU683435;CH471152;CN431519;M38177;M62403;NM_001552;U20982;Y12508 AAA62670;AAB06189;AAH16041;AAR05443;AAV38694;AAV38695;BAF83499;BAG65363;CAA73110;EAW60664;EAW60665;NP_001543;P22692 Hs.462998 1650636;1662778;2164616;5093090 A009F39;G10627;G32513;RH17717 BP-4;HT29-IGFBP;IBP-4;IBP4;IGFBP-4 IGF-binding protein 4;OTTHUMP00000164451;insulin-like growth factor-binding protein 4 APPROVED protein-coding ENSG00000141753 HGNC:5473 00900 146733 REVIEWED 736042 IGFBP3 insulin-like growth factor binding protein 3 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 p12.3 46050761 46059785 - 45951844 45960871 - 45912245 45921272 - 1580863;1626117;1626118;1626120;1626121;1626333;2313765;2313767;2290013;2290003;2290012;2290015;2313768;2313769;2290009;2290011;2290028;2290008;2290021;2290004;2290018;2301465;2301715;2301716;2289159;2313766;2301466;2301468;2313762;2301467;6480464;6907045;8548833;8548865 10069662;12002507;12544349;12925957;14675666;15006930;15159305;15298948;15356074;15521962;15625284;15681824;15732261;15844718;15862547;16005252;16180585;16445635;16887362;17082888;17237715;17287408;17332286;17541304;17668637;17709267;17724372;17952116;18068478;18076934;21788435 10076184;10218588;10226805;10352394;10407151;10511594;10512690;10650937;10766744;10770214;10811646;10823924;10849447;10874028;11095942;11238520;11264294;11297622;11319179;11344214;11375929;11600567;11749962;11751851;11762714;11784719;11801256;11804742;11886859;11914023;11914026;11940579;11948969;11953210;11959812;11971816;11997031;12006706;12011225;12051736;12054563;12068000;12111701;12122101;12127836;12135130;12150454;12163384;12200149;12210764;12213898;12219010;12220677;12242693;12473575;12477932;12506097;12508918;12519841;12571183;12571851;12575534;12590636;12599210;12690205;12725526;12730416;12735930;1280211;12810533;12810534;12853948;12865482;12870155;12907612;12926118;1293182;12937269;12962157;1373120;1383255;14561895;14576163;14576164;14597676;14598881;14644829;14674122;14693733;14702039;14710345;14718574;14744783;14751238;14760718;15014034;15047131;15059907;15066922;15067329;15069073;15070968;15086466;15126567;15140235;15178549;15198293;15221971;15247132;15247904;15282325;15302288;15340161;15379965;15448002;15485880;15489334;15517912;15641262;15641264;15642160;15642732;15651061;15661050;15668470;15703779;15734965;15769996;15781645;15800934;15802501;15809062;15817480;15894673;15894694;15927849;15941947;15959422;15986122;15987847;16015705;16030120;16049980;16169070;16181731;16189247;16189260;16210470;16211216;16215864;16275148;16303743;16306136;16322329;16335952;16394092;16404426;16448675;16455777;16489075;16489531;16540651;16541420;16543235;16552541;16614079;16617154;16645643;16723126;16763062;16775172;16776662;16793770;16825320;16915540;16935391;1695633;16965600;16969385;1697583;17018785;17035411;17044098;17047053;17051426;17056474;17063263;17070193;17085968;17096329;17113753;17119061;17172410;17187018;17210081;17264182;17289909;17293864;17297462;17300730;17350302;17388800;17396438;17434446;17434920;17446556;17447118;17453001;17457048;17546465;17555512;17560154;17566087;17567756;17577982;17591901;17593323;17597108;17624927;17627014;17635417;17655506;17689128;17719815;17761791;17763192;17803702;17823260;17827406;17879951;17912004;17957164;17959403;17972510;17997337;18006928;18031946;18059035;18084616;18162523;18163429;18171112;18177247;18178497;18259111;18287864;18329388;18335323;18375957;18398029;18410545;18450319;18459102;18471292;18481170;18498652;18534134;18562769;18596909;18602100;18615538;18618736;18624627;18636124;18676680;18812263;18818748;18929499;18984657;18992148;18992263;19004037;19019335;19020726;19036873;19064126;19064572;19077426;19121847;19124506;19124510;19127217;19129715;19138871;19158946;19170196;19190540;19194113;19207313;19217707;19223521;19240240;19257984;19258508;19332270;19414355;19449212;19453261;19455605;19477944;19491931;19492232;19509068;19527514;19540231;19551141;19551864;19556345;19568604;19588500;19591553;19596932;19625176;19633297;19634593;19672706;19692168;19734278;19764562;19784788;19786462;19786971;19789190;19800385;19833751;19845745;19846909;19858071;19863750;19913121;19917654;19919528;19938081;19941883;19944347;19948975;19960406;20003326;20023704;20039319;20051649;20084546;20099974;20102313;20119675;20121533;20144192;20145156;20155489;20204283;20215856;20219400;20228135;20302654;20307522;20350746;20357812;20378848;20403354;20416304;20423985;20427254;20453000;20468064;20484221;20501753;20513670;20540360;20580999;20587610;20599318;20613589;20628086;20628624;20634197;20677014;20731527;20734064;20801067;20810604;20848532;20851879;20860465;20884247;20889360;20920870;20921904;20945273;21068693;21076409;21078522;21140206;21195059;21216879;21254935;21347663;21378090;21383009;21388950;21392749;21435441;21447628;21447640;21455575;21471542;21474793;21478207;21520041;21520165;21521316;21525788;21529443;21536375;21536469;21551235;21562710;21585623;21636299;21648284;21697095;21698457;21701930;21737444;21761353;21823995;21852217;21892705;21898383;21930730;21944866;22001433;22004906;22026507;22032863;22085490;22113073;22128038;22167391;22246875;22253890;22278433;22318747;22328165;22332214;22347413;22363400;22381038;22389159;22415309;22415807;22441125;22442270;22475139;22494072;22500655;22527168;22543588;22554827;22565227;22643116;22739332;22745191;22751133;22778398;22801219;22847383;22879989;22882716;22884472;22892437;22894543;22936258;22951368;23011725;23041555;23158139;23174226;23178489;23185474;23341348;23348700;23377640;23383064;23464449;23473966;23498137;23527244;23527725;23592916;23611528;23619263;23720424;23748063;23770368;23784592;23789983;23792502;23831640;23864804;23878061;23962053;24022308;24051179;24094144;24250222;24368776;24386080;2464130;7508771;7523391;7538844;7566179;8550744;8675597;8708531;8843739;8964576;9252371;9275067;9337997;9388210;9389554;9408744;9446566;9497324;9688635 3486 B3KPF0;B3KWK7;C9JMX4;H0Y485;H0Y5K2;P17936 ABBA01058256;AC091524;AF370418;AI142967;AK055632;AK056274;AK075483;AK091706;AK091745;AK092447;AK095408;AK095864;AK095869;AK095900;AK095907;AK095974;AK095991;AK097201;AK122873;AK123735;AK125224;AK127537;AK129951;AK130884;AK297767;AK298143;AK315668;AL540642;AMYH02015643;AU102436;BC000013;BC018962;BC064987;BX640961;CH236958;CH471128;DQ301819;DQ884396;DQ884397;DQ884398;M31159;M35878;NG_011508;NM_000598;NM_001013398;S56205;X64875 AAA52541;AAA52706;AAH00013;AAH18962;AAH64987;AAQ15254;AAS07554;ABB96247;ABI63363;ABI63364;ABI63365;ABM86270;BAC87023;BAG38033;BAG51662;BAG52153;BAG52402;BAG52410;BAG52553;BAG53151;BAG53162;BAG53182;BAG53189;BAG53771;BAG53948;BAG54169;BAG60115;BAG60419;CAA46087;EAL23801;EAW61025;EAW61026;EAW61027;EAW61028;EAW61029;NP_000589;NP_001013416;P17936 Hs.450230 1658571;1659347;1735692;1777383;1790685;1790687;1790689;1790691;1790693;1790695;1790697;1797730 D7S2146E;D7S2379;D7S2833;IGFBP3-5'1;IGFBP3-X2;IGFBP3-X3;IGFBP3-X4.2;IGFBP3-X4.3;IGFBP3-X4.4;IGFBP3-X4.5;IGFBP3_1859;STS-M35878 BP-53;IBP-3;IBP3;IGFBP-3 IGF-binding protein 3;OTTHUMP00000159562;OTTHUMP00000207992;OTTHUMP00000207994;OTTHUMP00000207995;OTTHUMP00000214350;acid stable subunit of the 140 K IGF complex;binding protein 29;binding protein 53;growth hormone-dependent binding protein;insulin-like growth factor-binding protein 3 APPROVED protein-coding ENSG00000146674 HGNC:5472 00899 146732 REVIEWED 732384 IGFBP5 insulin-like growth factor binding protein 5 ENCODES a protein that exhibits insulin-like growth factor I binding; INVOLVED IN cellular response to cAMP; cellular response to organic cyclic compound; negative regulation of cell migration; PARTICIPATES IN insulin-like growth factor signaling pathway; ASSOCIATED WITH Coronary Disease; Pulmonary Fibrosis; FOUND IN extracellular region (inferred); insulin-like growth factor binding protein complex (inferred); INTERACTS WITH (+)-catechin; 17alpha-ethynylestradiol; 17beta-estradiol 2 2 2 q35 211304716 211328161 - 217536828 217560272 - 216672105 216695549 - 1580863;1626120;1626121;1626333;6480464 15521962;15681824;15862547 10336724;10407151;10698186;10766744;10811646;11095942;11264294;11297622;1147105;11751588;11821401;11874691;11905402;11923300;11973331;12005306;12466191;12477932;12766061;12777377;12810534;14645245;14718574;15001525;15140223;15155755;15489334;15534875;15618969;15650232;15661050;15700281;15777798;15780948;15802501;15930103;16007340;16169070;16195401;16311053;16344560;16543235;16716263;16865675;17067554;17071587;1709938;1710112;17242174;17290407;17312271;17316888;17496250;17595320;17651454;17804819;17823924;17892529;18085517;18161051;18210156;18311789;18373644;1850257;1850258;18602100;18624948;18665784;18676680;18710598;18762576;18775916;18805800;18809517;18957933;19170196;19250630;19341485;19453261;19476635;19610136;19625176;19628764;19692168;19808657;19843326;19877176;19948051;19950226;20345844;20354179;20379614;20416304;20468064;20508032;20583135;20628624;20634197;20734064;20810604;20819778;20944648;20949447;21029365;21191810;21256825;21460855;21852217;22246875;22252554;22328518;22571677;22589738;23408906;23499909;23539739;23576565;23665505;24120850;24379630;7511544;7511611;7525452;7559606;8619474;8817691;9110174;9202242;9497324;9528953;9786878;9822601;9883900 3488 C9JXX4;P24593 ABBA01062823;AC007563;AF055033;AF147308;AK314992;AMYH02005763;AMYH02005764;AU132181;AV710460;AY534685;BC008099;BC011453;BC018427;BC032366;BC039838;BC046102;BC073984;BC089383;BE795293;BM920595;BQ717583;BQ940805;BT019706;BT019707;CD679409;CH471063;CR456809;CS138154;DA691367;JA139569;JA139576;JA139685;JA139692;L27559;L27560;M62782;M65062;NM_000599;R71383 AAA53505;AAA72051;AAC09368;AAD04730;AAH08099;AAH11453;AAH18427;AAS16353;AAV38512;AAV38513;AAY14662;BAG37488;CAG33090;CAJ21553;CCA64016;CCA64017;CCA64018;CCA64019;EAW70574;EAW70575;NP_000590;P24593 Hs.607212 1671197;1722519;1734852;1796068;2121496;2121498;2133913;2143915;2184882;5124283;5494210 D2S1600E;D2S2725;D2S2836;G60184;IGFBP5_747;Igfbp5;L27559;RH75182;SGC31996;STS-T65427;WI-20588 IBP-5;IBP5;IGFBP-5 IGF-binding protein 5;OTTHUMP00000164060;insulin-like growth factor-binding protein 5 protein-coding ENSG00000115461 HGNC:5474 00901 146734 VALIDATED 735616 IGFBP6 insulin-like growth factor binding protein 6 ENCODES a protein that exhibits insulin-like growth factor binding (inferred); insulin-like growth factor I binding (inferred); INVOLVED IN cellular protein metabolic process (inferred); negative regulation of cell proliferation (inferred); regulation of cell growth (inferred); PARTICIPATES IN insulin-like growth factor signaling pathway; ASSOCIATED WITH Carcinoma in Situ; Insulin Resistance; Leiomyoma; FOUND IN extracellular vesicular exosome; INTERACTS WITH 1-chloro-2,4-dinitrobenzene; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 12 12 12 q13 53139331 53144023 + 53491436 53496128 + 53097652 53102344 + 1580863;1626333;2301712;2301717;2301715;2301708;2301716;6480464 10069662;15123780;15705628;15862547;15889232;17287408 10087296;10329650;10407151;10414596;11267670;11297622;11914024;12006706;12477932;12558805;14710364;15308688;15366928;15489334;15661050;15797461;16713569;1697583;1709161;1719383;17519236;17978469;18039785;18395833;1850257;1850258;18676680;18724896;18957410;18982452;18985860;19170196;19453261;19625176;19692168;19913121;19950226;20432455;20628086;20634197;20734064;20810604;21054968;21458526;2154495;21548981;21618524;21820463;21940310;21997736;23126425;23623986;23808406;24003225;24182837;2551732;7511544;7539002;7683540;7683646;7692907;9572875 3489 F8VVA5;F8VYK9;P24592 ABBA01008314;AC073573;AF297519;AJ006952;AK313158;AMYH02026511;AMYH02026512;AY443494;BC003507;BC005007;BC010162;BC011708;BQ925731;CB048388;CH471054;CR541791;CS138156;M62402;M69054;NM_002178 AAA88070;AAB06187;AAG37059;AAH03507;AAH05007;AAH10162;AAH11708;AAR05445;ABM83921;ABM87242;BAG35976;CAA07346;CAG46590;CAJ21554;EAW96664;NP_002169;P24592 Hs.274313 1657477;5022701 IGFBP6;STS-W84340 IBP-6;IBP6;IGFBP-6 IGF binding protein 6;IGF-binding protein 6;OTTHUMP00000242058;OTTHUMP00000242059;insulin-like growth factor-binding protein 6 protein-coding ENSG00000167779 HGNC:5475 00902 146735 VALIDATED 7361007 IGFBP7-AS1 IGFBP7 antisense RNA 1 4 4 4 q12 55480903 55576240 + 57975928 58071465 + 57109762 57205299 + 11329013 255130 ABBA01003451;ABBA01003452;AC006222;AC105390;AC111197;AMYH02009273;AMYH02009274;BC039519;BG189240;BG425784;HG496920;HG496921;HG496922;NR_034081 Hs.691061 RP11-12A1.1 ncrna ENSG00000245067 HGNC:40296 VALIDATED 1314683 IGFBP7 insulin-like growth factor binding protein 7 This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011] 4 4 4 q12 55402268 55481287 - 57897237 57976551 - 57031071 57110385 - 1580863;1626516;1626565;1626551;6480464;8699517;7240710;8554872 10854235;11742840;16873698 10502291;10595934;10820148;10859029;10985926;11549700;12065244;12407018;12477932;12592389;12679483;12843194;12847218;14521955;14633696;15077158;15340161;15489334;15708897;16302002;17048309;17136345;17312390;17465992;17972510;18160415;18267069;18711401;18981723;19019211;19374835;19542015;19638426;19710688;19829302;19919630;20029996;20407444;20433702;20440262;20464481;20478260;20535151;20599521;20977730;21040219;21095038;21139048;21328580;21413833;21525788;21562573;21835307;21908579;21909106;21988832;22005787;22173745;22277373;22383111;22392074;22544761;22622471;22750143;22906661;22939629;23250396;23381221;23382691;23543219;23546957;23600329;23713052;24075854;24357797;7538673;7694637;7980422;8117260;8939990;9100611;9313760;9388210 3490 Q16270 ABBA01003449;ABBA01003450;ABBA01003451;AC069307;AC111197;AF540057;AI761388;AK303915;AK316082;AMYH02009272;AMYH02009273;AY518539;BC017201;BC066339;BT006654;CH471057;CS138158;L19182;NG_031877;NM_001253835;NM_001553;S75725 AAA16187;AAB32370;AAH17201;AAH66339;AAN23122;AAP35300;AAR89912;BAG64844;BAH14453;CAJ21555;EAX05520;EAX05521;NP_001240764;NP_001544;Q16270 Hs.479808;Hs.691061 1653458;1657203;1684427;1699330;1855582;2124495;2134815;2137957;2145816;2181853;2191775 G16771;MARC_7319-7320:996687770:1;RH103252;SHGC-12841;SHGC-24442;SHGC-50868;SHGC-60117;SHGC-67219;SHGC-8252;STS-AA005396;STS-H49911 AGM;FSTL2;IBP-7;IGFBP-7;IGFBP-7v;IGFBP-rP1;IGFBPRP1;MAC25;PSF;RAMSVPS;TAF IGF-binding protein 7;OTTHUMP00000158974;PGI2-stimulating factor;angiomodulin;insulin-like growth factor-binding protein 7;prostacyclin-stimulating factor;tumor-derived adhesion factor APPROVED protein-coding HGNC:5476 04183 602867;614224 REVIEWED 1602630 IGFL1 IGF-like family member 1 IGFL1 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008] 19 19 19 q13.32 43537974 43539465 + 46733009 46734500 + 46229752 46231243 + 6480464 12975309;15340161;16890402;19147602;21454693 374918 Q6UW32 ABBA01040964;AC006262;AMYH02036216;AY359013;AY672111;NM_198541 AAI52956;AAQ89372;AAT77785;NP_940943;Q6UW32 Hs.546554 2148918 RH65803 APRG644;UNQ644 insulin growth factor-like family member 1 APPROVED protein-coding ENSG00000188293 HGNC:24093 17139 610544 PROVISIONAL 1313812 IGFBPL1 insulin-like growth factor binding protein-like 1 ENCODES a protein that exhibits insulin-like growth factor binding (inferred); INVOLVED IN regulation of cell growth (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; 3-methylcholanthrene; all-trans-retinoic acid 9 9 9 p13.1 38341932 38357387 - 38406525 38424444 - 38406528 38424447 - 6480464 14702039;15845387;17634530;17884839;24250222 347252 Q8WX77 ABBA01050380;ABBA01050381;AK055716;AK131521;AL135785;AMYH02019510;AMYH02019511;CH471071;NM_001007563 AAI46372;EAW58251;NP_001007564;Q8WX77 Hs.349705 1734146;1740157;1853749;5022651 D11S2921;D9S1769;D9S970;WI-11112 IGFBP-RP4;IGFBPRP4;bA113O24.1 IGFBP-related protein 10;OTTHUMP00000021398;insulin-like growth factor binding protein related protein 4;insulin-like growth factor-binding protein-like 1;insulin-like growth factor-binding-related protein 4 protein-coding HGNC:20081 17138 610413 VALIDATED 5131584 IGFL1P1 IGF-like family member 1 pseudogene 1 19 19 q13.32 46700278 46700537 + 46197021 46197280 + 16890402 727703 ABBA01040963;AC006262;AMYH02036216;NG_028705 IGFL-5P pseudo HGNC:32956 INFERRED 5131585 IGFL1P2 IGF-like family member 1 pseudogene 2 19 19 q13.32 46763692 46764118 - 46260435 46260861 - 16890402 727704 ABBA01040964;AC007193;AMYH02036217;NG_028698 IGFL-6P pseudo HGNC:32957 INFERRED 1603833 IGFL3 IGF-like family member 3 IGFL3 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008] 19 19 19 q13.32 43428311 43432914 - 46623328 46627931 - 46120071 46124674 - 12477932;12975309;14702039;15340161;16890402 388555 Q6UXB1 ABBA01040963;AC007785;AMYH02036215;AY358434;AY672113;BC130593;BC130597;CH471126;NM_207393 AAI30594;AAI30598;AAQ88800;AAT77787;ADR82805;EAW57403;EAW57404;NP_997276;Q6UXB1 Hs.365496 5024673 RH80492 UNQ483 RPRC483;insulin growth factor-like family member 3 APPROVED protein-coding ENSG00000188624 HGNC:32930 17140 610546 VALIDATED 1606353 IGFL4 IGF-like family member 4 IGFL4 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008] 19 19 19 q13.32 43348025 43349293 - 46543006 46544274 - 46039748 46041016 - 14702039;16890402 444882 M0QYY9;Q6B9Z1 ABBA01040960;AC007785;AMYH02036215;AY672114;NM_001002923 AAT77788;NP_001002923;Q6B9Z1 Hs.531310 insulin growth factor-like family member 4 APPROVED protein-coding ENSG00000204869 HGNC:32931 13730 610547 PROVISIONAL 1604232 IGFL2 IGF-like family member 2 IGFL2 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008] 19 19 19 q13.32 43456014 43469536 + 46651039 46664561 + 46147782 46161304 + 6480464 12477932;12975309;14702039;16890402 147920 M0R089;Q6UWQ7 ABBA01040963;AC007785;AK093330;AK125754;AMYH02036215;AW009166;AY358692;AY672112;BC130490;BC130492;CH471126;NM_001002915;NM_001135113 AAI30491;AAI30493;AAQ89055;AAT77786;BAC86275;EAW57405;NP_001002915;NP_001128585;Q6UWQ7 Hs.99376 1679439 RH92919 UNQ645;VPRI645 insulin growth factor-like family member 2 APPROVED protein-coding ENSG00000204866 HGNC:32929 13729 610545 VALIDATED 1606752 IGFN1 immunoglobulin-like and fibronectin type III domain containing 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (ortholog); Z disc (ortholog) 1 1 1 q32.1 174284212 174321263 + 201159952 201198080 + 201190824 201228952 + 8554872 12477932;15385448;18756455;20379614 91156 B7WP51;H7BZ61;Q86VF2 ABBA01027535;AC103925;AL137493;AMYH02002477;AY245430;BC028184;BC033185;BC131529;CH471067;KF455131;NM_001164586;XM_005245580;XM_006711617;XM_006711618 AAI31530;AAO92932;CAB70770;EAW91347;EAW91348;EAW91349;NP_001158058;Q86VF2;XP_005245637;XP_006711680;XP_006711681 Hs.519024 2141869 SHGC-76149 DKFZp434B1231;EEF1A2BP1 EEF1A2-binding protein 1;KY-interacting protein 1;OTTHUMP00000033847;eEF1A2 binding protein;immunoglobulin-like and fibronectin type III domain-containing protein 1 protein-coding ENSG00000163395 HGNC:24607 16812 INFERRED 735342 IGH immunoglobulin heavy locus Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals and some V, D, J, and C segments may be pseudogenes. [provided by RefSeq, Oct 2013] 14 14 14 q32.33 86075380 87241089 - 106032614 107288051 - 105566277 106879844 - 6480464;8554872 11955599;12114543;12370427;12477932;1249422;12749909;14670929;14702039;15010366;15191563;15607820;15703784;15716988;15717690;16194898;16215945;16343622;1649888;16860443;16862572;17018398;17169423;17410523;17553518;17914413;17940204;18538438;18656697;18667363;18818706;19016722;19129688;19250848;19264231;19340428;19350515;19367498;19369625;19443409;19454496;19679010;19915167;19965626;20090783;20093404;20160358;20164537;20177145;20471030;20491880;20511662;20544842;20552631;20952062;21051931;21055809;21061041;2114977;2126193;21306777;21326860;21463115;21487109;21549311;21784854;21840049;21988832;22171799;22289136;22294636;22357631;22517675;22574971;22875913;22915760;22939229;22965301;23018871;23220404;23225573;23285480;23303672;23611359;23828278;23844084;23953419;24018820;24048795;24162737;24711557;25016705;2518659;3138112;3141924;3144456;3243276;3866244;6101209;6450418;6817141;7486559;7681398;814163;9294139;9841928;9847074 3492 Q96QS0 AB019437;AB019438;AB019439;AB019440;AB019441;ABBA01040607;ABBA01074082;ABBA01074083;ABBA01074084;ABBA01074085;ABBA01074086;ABBA01074087;ABBA01074088;ABBA01074089;ABBA01074090;ABBA01074091;ABBA01074092;ABBA01074093;ABBA01074094;ABBA01074095;ABBA01074096;ABBA01074097;ABBA01074098;ABBA01074099;ABBA01074100;ABBA01074101;ABBA01074102;ABBA01074103;ABBA01074104;ABBA01074105;ABBA01074106;ABBA01074107;ABBA01074108;ABBA01074109;ABBA01074110;AC234301;AC234458;AC242528;AC244226;AC244452;AC244664;AC245023;AC245166;AC245369;AC246787;AC247036;AK123975;AK125079;AK126352;AL122127;AL901608;AL928742;AL928761;AL928762;AL928765;AL928767;AL928768;AL928769;AMYH02029969;AMYH02029970;BC066594;BX538066;BX640822;BX640854;DQ535074;J00233;M36529;NG_001019 AAA52742;ABG38437;BAC85740;BAC86044;BAC86532;CAD97996;CAE45898;CAE45921 Hs.699841 1646896;1648137;1650110;1661837;1678039;1680220;1681229;1686066;1686202;1710266;1713035;1715267;1722429;1740857;1740859;1741397;1742991;1744485;1744487;1752313;1759781;1761069;1767771;1768485;1768705;1769303;1777747;1783118;1792436;1793072;1793074;1793076;1793078;1793080;1793396;1857784;2122270;2125530;2129085;2140468;2142946;2153676;2153828;2163349;2166213;2169842;2185548;2186963;2187573;5113752 D14S1419;D14S1420;G19448;G35370;G35777;G36059;G36060;G36080;G36190;G36191;G36192;G36342;G60288;GDB:180978;GDB:229307;GDB:456167;GDB:456173;L77312;PMC151015P1;PMC19472P1;PMC19472P2;PMC19472P3;PMC19472P5;PMC19472P6;PMC21601P1;RH119884;RH120300;RH18069;RH25348;RH44849;RH44850;RH47003;RH65984;RH66790;RH67822;RH68957;RH68981;RH70844;RH75970;RH79161;RH80278;RH98683;SGC33974;SHGC-106213;SHGC-145014;SHGC-170015;SHGC-170017;SHGC-35600;SHGC-36156;SHGC-85227 DKFZp686C15213;DKFZp686K04218;DKFZp686L19235;DKFZp686M08189;FLJ41981;FLJ43089;FLJ44381;IGD1;IGH.1@;IGH@;IGHD@;IGHDY1;IGHJ;IGHJ@;IGHV;IGHV@;MGC70893;MGC72071;MGC88774 D (diversity) region of heavy chains;J (joining) region of heavy chains;immunglobulin heavy chain variable region;immunoglobulin heavy diversity cluster;immunoglobulin heavy diversity group;immunoglobulin heavy diversity locus;immunoglobulin heavy joining cluster;immunoglobulin heavy joining group;immunoglobulin heavy polypeptide, joining region;immunoglobulin heavy variable cluster;immunoglobulin heavy variable group APPROVED protein-coding HGNC:5477 146910;147010;147070 REVIEWED 1605956 IGFLR1 IGF-like family receptor 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; INTERACTS WITH aflatoxin B1; arsenite(3-); copper(2+) sulfate 19 19 19 q13.12 32943626 32946828 - 36229957 36234075 - 35739250 35742450 - 6480464;8554872 12477932;21454693;24250222 79713 K7EL86;K7EQI5;K7ES44;K7ESC2;Q9H665;S4R3Z9;U3KQL9 ABBA01018762;ABBA01018763;AD000671;AK026226;AMYH02035989;AX775837;BC031329;BC126481;BC126483;BC144205;NM_024660 AAH31329;AAI26482;AAI26484;BAB15400;CAE11618;NP_078936;Q9H665 Hs.352548 1661548;1683303 RH99245;STS-H85102 FLJ22573;TMEM149;U2AF1L4 U2 small nuclear RNA auxiliary factor 1-like 4;U2(RNU2) small nuclear RNA auxiliary factor 1-like 4;transmembrane protein 149 APPROVED protein-coding ENSG00000126246 HGNC:23620 07996 614143 PROVISIONAL 1346650 IGHA1 immunoglobulin heavy constant alpha 1 ENCODES a protein that exhibits immunoglobulin receptor binding; INVOLVED IN antibacterial humoral response; glomerular filtration; positive regulation of respiratory burst; FOUND IN blood microparticle; extracellular space; extracellular vesicular exosome; INTERACTS WITH cadmium atom; copper atom; copper(0) 1580863;6480464 3493 P01876 J00220 1722429;1768705;1769303;1793072;2142946;2166213;5113752 G60288;PMC19472P1;RH18069;RH44849;RH44850;RH66790;RH68957 HGNC:5478 146900 1348714 IGHA2 immunoglobulin heavy constant alpha 2 (A2m marker) ENCODES a protein that exhibits immunoglobulin receptor binding; INVOLVED IN antibacterial humoral response; glomerular filtration; positive regulation of respiratory burst; FOUND IN blood microparticle; extracellular space; extracellular vesicular exosome 1580863 3494 P01877 J00221 1768705;1793078;2142946;2166213;5113752 PMC19472P5;RH44849;RH44850;RH66790;RH68957 HGNC:5479 147000 1350194 IGHD immunoglobulin heavy constant delta ASSOCIATED WITH Melanoma (inferred); FOUND IN blood microparticle; extracellular vesicular exosome; INTERACTS WITH cadmium atom; cadmium dichloride; lead(0) 6480464;8554872 3922054 3495 P01880 K02875 2113510;5016911;5113752 BZ900741;RH66790;RH70585 HGNC:5480 147170 1345249 IGHD1-1 immunoglobulin heavy diversity 1-1 28510 X97051 HGNC:5482 1354042 IGHD1-14 immunoglobulin heavy diversity 1-14 28508 X13972 HGNC:5483 1351176 IGHD1-20 immunoglobulin heavy diversity 1-20 28507 X97051 HGNC:5484 1350759 IGHD1-26 immunoglobulin heavy diversity 1-26 28506 X97051 HGNC:5485 1349058 IGHD1-7 immunoglobulin heavy diversity 1-7 28509 X13972 HGNC:5486 1349991 IGHD1OR15-1A immunoglobulin heavy diversity 1/OR15-1A 28335 X55575 HGNC:5487 1353423 IGHD1OR15-1B immunoglobulin heavy diversity 1/OR15-1B 28334 X55576 HGNC:5488 1342526 IGHD2-15 immunoglobulin heavy diversity 2-15 28503 J00234 HGNC:5489 1354181 IGHD2-2 immunoglobulin heavy diversity 2-2 28505 J00232 HGNC:5490 1344020 IGHD2-21 immunoglobulin heavy diversity 2-21 28502 J00235 HGNC:5491 1345450 IGHD2-8 immunoglobulin heavy diversity 2-8 28504 X13972 HGNC:5492 1349984 IGHD2OR15-2A immunoglobulin heavy diversity 2/OR15-2A 28333 X55577 HGNC:5493 1354189 IGHD2OR15-2B immunoglobulin heavy diversity 2/OR15-2B 28332 X55578 HGNC:5494 1343093 IGHD3-10 immunoglobulin heavy diversity 3-10 28499 X13972 HGNC:5495 1345636 IGHD3-16 immunoglobulin heavy diversity 3-16 28498 X93614 HGNC:5496 1343339 IGHD3-22 immunoglobulin heavy diversity 3-22 28497 X93616 HGNC:5497 1346423 IGHD3-3 immunoglobulin heavy diversity 3-3 28501 X13972 HGNC:5498 611937 1350367 IGHD3-9 immunoglobulin heavy diversity 3-9 28500 X13972 HGNC:5499 1347540 IGHD3OR15-3A immunoglobulin heavy diversity 3/OR15-3A 28331 X55579 HGNC:5500 1352575 IGHD3OR15-3B immunoglobulin heavy diversity 3/OR15-3B 28330 X55580 HGNC:5501 1352299 IGHD4-11 immunoglobulin heavy diversity 4-11 28495 X13972 HGNC:5502 1343733 IGHD4-17 immunoglobulin heavy diversity 4-17 28494 X97051 HGNC:5503 1349127 IGHD4-23 immunoglobulin heavy diversity 4-23 28493 X97051 HGNC:5504 1346326 IGHD4OR15-4A immunoglobulin heavy diversity 4/OR15-4A 28329 X55581 HGNC:5506 1345433 IGHD4OR15-4B immunoglobulin heavy diversity 4/OR15-4B 28328 X55582 HGNC:5507 1343288 IGHD5-12 immunoglobulin heavy diversity 5-12 28491 X13972 HGNC:5508 1347741 IGHD5-18 immunoglobulin heavy diversity 5-18 28490 X97051 HGNC:5509 1345663 IGHD5-24 immunoglobulin heavy diversity 5-24 28489 X97051 HGNC:5510 1342624 IGHD5-5 immunoglobulin heavy diversity 5-5 28492 X13972 HGNC:5511 1347784 IGHD5OR15-5A immunoglobulin heavy diversity 5/OR15-5A 28327 X55583 HGNC:5512 1343295 IGHD4-4 immunoglobulin heavy diversity 4-4 28496 X13972 HGNC:5505 1345774 IGHD6-13 immunoglobulin heavy diversity 6-13 28487 X13972 HGNC:5514 1352860 IGHD6-19 immunoglobulin heavy diversity 6-19 28486 X97051 HGNC:5515 1345741 IGHD6-25 immunoglobulin heavy diversity 6-25 28485 X97051 HGNC:5516 1350749 IGHD6-6 immunoglobulin heavy diversity 6-6 28488 X13972 HGNC:5517 1349051 IGHD5OR15-5B immunoglobulin heavy diversity 5/OR15-5B (non-functional) q11.2 2114977 28326 AC037471;X55584 IGHD5OR155B APPROVED pseudo HGNC:5513 1343137 IGHD7-27 immunoglobulin heavy diversity 7-27 28484 J00256 HGNC:5518 1344397 IGHD@ immunoglobulin heavy diversity group 50648 HGNC:5481 146910 1342512 IGHDOR15@ immunoglobulin heavy diversity orphans on chromosome 15 3496 HGNC:5519 146990 735929 IGHE immunoglobulin heavy chain (epsilon polypeptide) INVOLVED IN Fc-epsilon receptor signaling pathway (inferred); innate immune response (inferred); PARTICIPATES IN interleukin-4 signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH phenanthrene; prostaglandin E2 1580863;6480464;6484113;8554872 3497 P01854 J00222 1686066;1744485;1793080;2153828 GDB:456167;PMC19472P6;RH68981;SHGC-35600 HGNC:5522 147180 1343761 IGHEP1 immunoglobulin heavy constant epsilon P1 (pseudogene) 14 14 14 q32.33 86127525 86128824 - 106188131 106188864 - 105721794 105722527 - 6811139 3498 ABBA01074082;AL901608;J00223;NG_001019 1686066;1744487;2153828 GDB:456173;RH68981;SHGC-35600 APPROVED pseudo HGNC:5523 VALIDATED 1347177 IGHEP2 immunoglobulin heavy constant epsilon P2 (pseudogene) 9 9 9 p24.1 5039073 5040530 + 5113452 5114909 + 5113452 5114909 + 6327276;6964396 3499 ABBA01065417;AL161450;AMYH02019083;K01241;NG_003254;NG_009904 APPROVED pseudo HGNC:5524 INFERRED 1344505 IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) ENCODES a protein that exhibits antigen binding (inferred); INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); Fc-gamma receptor signaling pathway involved in phagocytosis (inferred); PARTICIPATES IN interleukin-4 signaling pathway; ASSOCIATED WITH Autosomal dominant inheritance (inferred); FOUND IN blood microparticle; extracellular space; extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 1580863;6480464;6484113;8699517 3500 P01857 J00228 1792436;5016350;5017143;5017296;5021504;5113752 A010A33;D14S1342;PMC151015P1;RH44825;RH66790;RH71306 HGNC:5525 147100 1344522 IGHG3 immunoglobulin heavy constant gamma 3 (G3m marker) ENCODES a protein that exhibits antigen binding (inferred); INVOLVED IN retina homeostasis; PARTICIPATES IN interleukin-4 signaling pathway; FOUND IN blood microparticle; extracellular space; extracellular vesicular exosome; INTERACTS WITH formaldehyde; ibuprofen; progesterone 1580863;6480464;6484113 6808505 3502 P01860 M12958 1792436;5016350;5017143;5017296;5021504 A010A33;D14S1342;PMC151015P1;RH44825;RH71306 HGNC:5527 147120 1346969 IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) ENCODES a protein that exhibits antigen binding (inferred); INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); Fc-gamma receptor signaling pathway involved in phagocytosis (inferred); FOUND IN blood microparticle; extracellular space; extracellular vesicular exosome 1580863 3501 P01859 J00230 5016350;5017143;5017296;5021504 A010A33;D14S1342;RH44825;RH71306 HGNC:5526 147110 1346926 IGHG4 immunoglobulin heavy constant gamma 4 (G4m marker) ENCODES a protein that exhibits antigen binding (inferred); INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); Fc-gamma receptor signaling pathway involved in phagocytosis (inferred); FOUND IN blood microparticle; extracellular space; extracellular vesicular exosome 1580863 3503 P01861 K01316 5016350;5017296;5021504 A010A33;D14S1342;RH71306 HGNC:5528 147130 1343195 IGHJ1 immunoglobulin heavy joining 1 28483 J00256 HGNC:5532 1346458 IGHJ1P immunoglobulin heavy joining 1P (pseudogene) 14 14 14 q32.33 86262489 86262542 - 106331834 106331887 - 105865624 105865677 - 6101209;6795593 28482 ABBA01074084;AC246787;AL122127;J00256;NG_001019;X97051 J-psi-1;Jpsi1 APPROVED pseudo HGNC:5533 VALIDATED 1353476 IGHGP immunoglobulin heavy constant gamma P (non-functional) 14 14 14 q32.33 1 499 + 106134586 106136377 - 105668249 105670040 - 3130612 3505 AL928761;AL928769;NG_001019;X06766 1792436 PMC151015P1 IGHGP1 pseudo HGNC:5529 VALIDATED 1345753 IGHJ2 immunoglobulin heavy joining 2 28481 J00256 HGNC:5534 1348500 IGHJ3 immunoglobulin heavy joining 3 28479 J00256 HGNC:5536 1351196 IGHJ2P immunoglobulin heavy joining 2P (pseudogene) 14 14 14 q32.33 86261658 86261717 - 106331003 106331062 - 105864793 105864852 - 6101209;6795593 28480 ABBA01074084;AC246787;AL122127;J00256;NG_001019;X97051 Jpsi2 APPROVED pseudo HGNC:5535 VALIDATED 1345182 IGHJ4 immunoglobulin heavy joining 4 28477 J00256 HGNC:5538 1353534 IGHJ5 immunoglobulin heavy joining 5 28476 J00256 HGNC:5539 1344075 IGHJ6 immunoglobulin heavy joining 6 28475 J00256 HGNC:5540 1345981 IGHJ@ immunoglobulin heavy joining group 3506 HGNC:5531 147010 1348203 IGHJ3P immunoglobulin heavy joining 3P (pseudogene) 14 14 14 q32.33 86260280 86260330 - 106329625 106329675 - 105863415 105863465 - 6101209;6795593 28478 ABBA01074084;AC246787;AL122127;J00256;NG_001019;X97051 Jpsi3 APPROVED pseudo HGNC:5537 VALIDATED 1350926 IGHM immunoglobulin heavy constant mu ENCODES a protein that exhibits immunoglobulin receptor binding; peptidoglycan binding; phosphatidylcholine binding; INVOLVED IN adaptive immune response; antibacterial humoral response; defense response to Gram-negative bacterium; ASSOCIATED WITH Agammaglobulinemia (inferred); AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (inferred); Autosomal recessive inheritance (inferred); FOUND IN blood microparticle; cell surface; extracellular space; INTERACTS WITH (-)-demecolcine; (S)-nicotine; 2-naphthylamine 1580863;6480464;7240710;8699517;8554872 2115996 3507 P01871 X14940 1792436;1793076;1793396;2113510;2129085;5016350;5016911;5017143;5017296;5021504;5113752;5124407 A010A33;BZ900741;D14S1342;G19448;PMC151015P1;PMC19472P3;PMC21601P1;RH44825;RH66790;RH69050;RH70585;RH71306 HGNC:5541 147020;601495 1347621 IGHR immunoglobulin heavy chain regulator 314310 8117 HGNC:5543 1348528 IGHV1-12 immunoglobulin heavy variable 1-12 (pseudogene) 14 14 14 q32.33 86509352 86509641 - 106579014 106579303 - 106122420 106122709 - 3396540 28471 AB019440;ABBA01074094;AC247036;NG_001019;X92210 1-12P;IGHV112 APPROVED pseudo HGNC:5546 VALIDATED 1343395 IGHV1-14 immunoglobulin heavy variable 1-14 (pseudogene) 14 14 14 q32.33 86532903 86533152 - 106602571 106602820 - 106145882 106146131 - 8490662 28470 AB019440;ABBA01074094;AC247036;M99639;NG_001019 1-14P;IGHV114 APPROVED pseudo HGNC:5547 VALIDATED 68450 IGHMBP2 immunoglobulin mu binding protein 2 This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008] 11 11 11 q13.3 66010833 66047528 + 68671319 68708070 + 68903851 68940602 + 737748;1580863;6480464;7240710;8699517;8554872 11528396 10049831;11292846;12477932;12547203;14681881;14702039;15106121;15231747;15290238;15599641;15797190;16752224;16964485;1714899;18187479;18187620;18802676;19157874;19158098;19299493;19946888;20031928;20441787;22157136;22791546;22965130;22999958;8349627;8493094;8619474;9110174;9439975;9507986 3508 F5GX64;F5H5K3;H3BRR1;P38935 AB208802;ABBA01023977;AF052128;AK091539;AK123166;AK312565;AMYH02025027;AMYH02025028;AMYH02025029;AP000808;BC000290;BC015666;BC025299;BC041808;BC052278;BC062312;BC080519;BC105088;BC105090;BE302389;CH471076;DB448398;L14754;L24544;M64979;NG_007976;NM_002180;XM_005273974;XM_005273975;XM_005273976;XM_005273977;XR_247198 AAA53082;AAA58611;AAA70430;AAH00290;AAH25299;AAI05089;AAI05091;BAD92039;BAG35460;EAW74729;NP_002171;P38935;XP_005274031;XP_005274032;XP_005274033;XP_005274034 Hs.503048 1659179;1773689;1776094;2119311;2120143;2163475 D11S4590;IGHMBP2;RH47914;SHGC-4167;STS-L14754;WI-15192 CATF1;FLJ34220;FLJ41171;GF-1;HCSA;HMN6;SMARD1;SMUBP2;ZFAND7 ATP-dependent helicase IGHMBP2;DNA-binding protein SMUBP-2;OTTHUMP00000237202;cardiac transcription factor 1;glial factor 1;immunoglobulin mu-binding protein 2;zinc finger, AN1-type domain 7 APPROVED protein-coding ENSG00000132740 HGNC:5542 02736 600502;604320 REVIEWED 1348399 IGHV1-17 immunoglobulin heavy variable 1-17 (pseudogene) 14 14 14 q32.33 86561359 86561795 - 106631031 106631467 - 106174342 106174778 - 8490662 28469 AB019440;ABBA01074094;AC247036;M99640;NG_001019 1-17P;IGHV117 APPROVED pseudo HGNC:5548 VALIDATED 1344964 IGHV1-18 immunoglobulin heavy variable 1-18 28468 M99641 HGNC:5549 1343919 IGHV1-2 immunoglobulin heavy variable 1-2 6480464 28474 X07448 1686202;1741397;1769303;1777747;1793072;1793074;1793076;1793396;2113510;2129085;2169842 BZ900741;G19448;GDB:180978;PMC19472P1;PMC19472P2;PMC19472P3;PMC21601P1;RH18069;RH25348;RH98683;SGC33974 HGNC:5550 1347610 IGHV1-24 immunoglobulin heavy variable 1-24 INTERACTS WITH benzo[a]pyrene 6480464 28467 M99642 HGNC:5551 1346480 IGHV1-3 immunoglobulin heavy variable 1-3 28473 X62109 HGNC:5552 1348342 IGHV1-45 immunoglobulin heavy variable 1-45 28466 X92209 HGNC:5553 1344951 IGHV1-46 immunoglobulin heavy variable 1-46 28465 X92343 HGNC:5554 1352108 IGHV1-58 immunoglobulin heavy variable 1-58 28464 M29809 HGNC:5555 1343652 IGHV1-67 immunoglobulin heavy variable 1-67 (pseudogene) 14 14 14 q32.33 87074906 87075345 - 107136620 107137059 - 106680603 106681042 - 3396540 28463 AB019437;AC245369;NG_001019;X92212 1740857 D14S1420 1-67P;IGHV167 APPROVED pseudo HGNC:5556 VALIDATED 1348898 IGHV1-69 immunoglobulin heavy variable 1-69 INTERACTS WITH methyl methanesulfonate 6480464 8469934 28461 L22582 HGNC:5558 1353470 IGHV1-8 immunoglobulin heavy variable 1-8 28472 M99637 HGNC:5559 1352686 IGHV1-C immunoglobulin heavy variable 1-C (provisional) 28460 Z18904 HGNC:5560 1353582 IGHV1-F immunoglobulin heavy variable 1-F (provisional) 28458 Z12305 HGNC:5562 1346241 IGHV1-68 immunoglobulin heavy variable 1-68 (pseudogene) 14 14 14 q32.33 87098709 87099188 - 107159824 107160303 - 106703807 106704286 - 9841928 28462 AB019437;AC245369;NG_001019 1-68P;IGHV168 APPROVED pseudo HGNC:5557 VALIDATED 1345401 IGHV1OR15-2 immunoglobulin heavy variable 1/OR15-2 (pseudogene) 15 15 15 q11.2 392787 393233 + 20178025 20178512 - 19972764 19973259 - 7959766;9847074 100287128 ABBA01004578;AC127381;AMYH02029973;L25543 IGHV1OR152 APPROVED pseudo HGNC:5564 MODEL 1354167 IGHV1OR15-3 immunoglobulin heavy variable 1/OR15-3 (pseudogene) 15 15 15 q11.2 169495 170182 + 22465977 22466509 - 21735431 21735961 - 7951227;8801417 646370 AC010760;AC135068;Z29595 IGHV1OR153 APPROVED pseudo HGNC:5565 MODEL 1348025 IGHV1OR15-1 immunoglobulin heavy variable 1/OR15-1 (non-functional) 15 15 15 q11.2 96570 97149 - 22448226 22448876 - 22160275 22160925 - 2841108;7681398;7951227 388077 P23083 AC010760;AMYH02030018;Z29631 CAA82738;P23083 1723339 RH118486 IGHV1/OR15-1;IGHV1OR151 APPROVED pseudo HGNC:5563 MODEL 1349977 IGHV1OR15-4 immunoglobulin heavy variable 1/OR15-4 (pseudogene) 15 15 q11.2 3412 3898 + 22482589 22490023 - 7951227 646379 AC025884;Z29596 IGHV1OR154 APPROVED pseudo HGNC:5566 1343504 IGHV1OR15-6 immunoglobulin heavy variable 1/OR15-6 (pseudogene) q11.2 7951227 28320 AC131280;Z29634 IGHV1OR156 APPROVED pseudo HGNC:5568 1346109 IGHV1OR15-9 immunoglobulin heavy variable 1/OR15-9 (non-functional) 15 q11.1 20169909 20170354 - 7959766;9847074 651963 AC127381;L25542 AAA79020 IGHV1OR159 pseudo HGNC:5569 1347404 IGHV1OR15-5 immunoglobulin heavy variable 1/OR15-5 (non-functional) 1404388;3123998;7951227 100384884 NG_016978;Z12314;Z29633 CAA78184 IGHV1OR155 APPROVED pseudo HGNC:5567 INFERRED 1605500 IGHV1OR15-9 immunoglobulin heavy variable 1/OR15-9 (non-functional) 15 15 q11.1 20169909 20170354 - 19964656 19965101 - 16572171;21906983;7959766;9847074 390531 ABBA01004579;AC127381;AMYH02029973;L25542;NG_032069 AAA79020 IGHV1OR159;VSIG7 APPROVED pseudo HGNC:5569 INFERRED 1345090 IGHV1OR16-2 immunoglobulin heavy variable 1/OR16-2 (pseudogene) p11.2 7951227 28314 Z29600 IGHV1OR162 APPROVED pseudo HGNC:5571 1347538 IGHV1OR16-1 immunoglobulin heavy variable 1/OR16-1 (pseudogene) 16 16 p11.2 32046391 32046647 + 32035070 32035326 + 7951227 28315 AC142381;AMYH02031859;NG_027716;Z29599 IGHV1OR161 APPROVED pseudo HGNC:5570 INFERRED 1346809 IGHV1OR16-3 immunoglobulin heavy variable 1/OR16-3 (pseudogene) p11.2 7951227 28313 Z29639 IGHV1OR163 APPROVED pseudo HGNC:5572 1353063 IGHV1OR16-4 immunoglobulin heavy variable 1/OR16-4 (pseudogene) p11.2 7951227 28312 Z17397 IGHV1OR164 APPROVED pseudo HGNC:5573 1347037 IGHV2-10 immunoglobulin heavy variable 2-10 (pseudogene) 14 14 q32.33 86489878 86490318 - 106559540 106559980 - 8490662 28456 AB019440;ABBA01074092;M99647;NG_001019 2-10P;IGHV210 APPROVED pseudo HGNC:5574 VALIDATED 1352011 IGHV2-26 immunoglobulin heavy variable 2-26 28455 M99648 HGNC:5575 1343940 IGHV2-5 immunoglobulin heavy variable 2-5 28457 X62111 HGNC:5576 1347322 IGHV2-70 immunoglobulin heavy variable 2-70 28454 L21969 HGNC:5577 4752521 IGHV1OR21-1 immunoglobulin heavy variable 1/OR21-1 (non-functional) FOUND IN extracellular region (inferred) 21 21 p11.2 10862622 10863067 + 10649390 10649835 - 6480464 10830953;1404388;3123998 390530 A6NJS3 ABBA01134518;AC244144;AF254982;NG_011680;X92282 A6NJS3 pseudo HGNC:38040 INFERRED 1342973 IGHV2OR16-5 immunoglobulin heavy variable 2/OR16-5 (non-functional) 16 16 p11.2 30348524 30349065 + 32859034 32859575 + 7959766 100129631 AC142086;CH878714;L25544 AAA79021;EAW50869 IGHV2OR165 pseudo HGNC:5579 1347525 IGHV3-11 immunoglobulin heavy variable 3-11 28450 M99652 HGNC:5580 1349268 IGHV3-15 immunoglobulin heavy variable 3-15 28448 X92216 HGNC:5582 1352635 IGHV3-16 immunoglobulin heavy variable 3-16 28447 M99655 HGNC:5583 1342657 IGHV3-13 immunoglobulin heavy variable 3-13 28449 X92217 HGNC:5581 1346799 IGHV3-20 immunoglobulin heavy variable 3-20 28445 M99657 HGNC:5585 1348697 IGHV3-21 immunoglobulin heavy variable 3-21 28444 Z14073 HGNC:5586 1350977 IGHV3-19 immunoglobulin heavy variable 3-19 (pseudogene) 14 14 14 q32.33 86583847 86584139 - 106653369 106653661 - 106196698 106196990 - 8490662 28446 AB019440;ABBA01074094;AC247036;M99656;NG_001019 3-19P;IGHV319 APPROVED pseudo HGNC:5584 VALIDATED 1344900 IGHV3-22 immunoglobulin heavy variable 3-22 (pseudogene) 14 14 14 q32.33 86644848 86645309 - 106714360 106714821 - 106257762 106258223 - 8490662 28443 AB019439;ABBA01074094;AC245166;M99659;NG_001019 3-22P;IGHV322 APPROVED pseudo HGNC:5587 VALIDATED 1348199 IGHV3-23 immunoglobulin heavy variable 3-23 28442 M99660 HGNC:5588 611939 1348527 IGHV3-25 immunoglobulin heavy variable 3-25 (pseudogene) 14 14 14 q32.33 86676114 86676567 - 106745620 106746073 - 106289026 106289479 - 8490662 28441 AB019439;ABBA01074095;AC245166;M99661;NG_001019 3-25P;IGHV325 APPROVED pseudo HGNC:5589 VALIDATED 1353560 IGHV3-29 immunoglobulin heavy variable 3-29 (pseudogene) 14 14 14 q32.33 614 1071 + 106787358 106787815 - 106331106 106331563 - 8490662 28440 AB019439;AC245166;M99662;NG_001019 3-29P;IGHV329 APPROVED pseudo HGNC:5590 VALIDATED 1343472 IGHV3-30 immunoglobulin heavy variable 3-30 28439 M83134 5124407 RH69050 HGNC:5591 1344854 IGHV3-30-3 immunoglobulin heavy variable 3-30-3 57290 X92283 HGNC:5593 1352029 IGHV3-30-5 immunoglobulin heavy variable 3-30-5 89770 M83134 HGNC:5594 1351122 IGHV3-32 immunoglobulin heavy variable 3-32 (pseudogene) 14 14 q32.33 106812071 106812528 - 106356145 106356602 - 8490662 28435 AB019439;AC234301;AC245166;M99664;NG_001019 3-32P;IGHV332 APPROVED pseudo HGNC:5595 VALIDATED 1346450 IGHV3-30-2 immunoglobulin heavy variable 3-30-2 (pseudogene) 14 14 14 q32.33 5216 5257 + 106800309 106800757 - 106344385 106344833 - 9841928 28438 AB019439;AC234301;AC245166;NG_001019 3-30.2P;IGHV3302 APPROVED pseudo HGNC:5592 VALIDATED 1353105 IGHV3-33 immunoglobulin heavy variable 3-33 28434 L06618 HGNC:5596 1349084 IGHV3-35 immunoglobulin heavy variable 3-35 28432 M99666 HGNC:5598 1352462 IGHV3-36 immunoglobulin heavy variable 3-36 (pseudogene) 14 14 14 q32.33 86786621 86787083 - 106848680 106849142 - 106392769 106393231 - 8490662 28431 AB019439;ABBA01074102;AC245166;M99667;NG_001019 3-36P;IGHV336 APPROVED pseudo HGNC:5599 VALIDATED 1343901 IGHV3-37 immunoglobulin heavy variable 3-37 (pseudogene) 14 14 14 q32.33 86790517 86790966 - 106852577 106853026 - 106396665 106397114 - 8490662 28430 AB019439;ABBA01074102;AC245166;M99668;NG_001019 3-37P;IGHV337 APPROVED pseudo HGNC:5600 VALIDATED 1347017 IGHV3-38 immunoglobulin heavy variable 3-38 28429 M99669 HGNC:5601 1348003 IGHV3-33-2 immunoglobulin heavy variable 3-33-2 (pseudogene) 14 14 14 q32.33 86762950 86763398 - 106825029 106825477 - 106369098 106369546 - 9841928 28433 AB019439;ABBA01074102;AC245166;NG_001019 3-33.2P;IGHV3332 APPROVED pseudo HGNC:5597 VALIDATED 1347203 IGHV3-41 immunoglobulin heavy variable 3-41 (pseudogene) 14 14 14 q32.33 86836978 86837432 - 106899040 106899494 - 106443129 106443584 - 8490662 28428 AB019438;ABBA01074107;AC244452;M99670;NG_001019 3-41P;IGHV341 APPROVED pseudo HGNC:5602 VALIDATED 1350820 IGHV3-42 immunoglobulin heavy variable 3-42 (pseudogene) 14 14 14 q32.33 86857097 86857531 - 106919179 106919613 - 106463254 106463688 - 8490662 28427 AB019438;ABBA01074109;AC244452;M99671;NG_001019 3-42P;IGHV342 APPROVED pseudo HGNC:5603 VALIDATED 1354279 IGHV3-43 immunoglobulin heavy variable 3-43 28426 M99672 HGNC:5604 1344678 IGHV3-47 immunoglobulin heavy variable 3-47 (pseudogene) 14 14 14 q32.33 86912447 86912902 - 106974506 106974961 - 106518579 106519034 - 28425 AB019438;AC244452;NG_001019;Z18900 CAA79337 3-47P;IGHV347 APPROVED pseudo HGNC:5605 VALIDATED 1350036 IGHV3-49 immunoglobulin heavy variable 3-49 28423 M99676 HGNC:5607 1349926 IGHV3-50 immunoglobulin heavy variable 3-50 (pseudogene) 14 14 14 q32.33 86960031 86960486 - 107022088 107022543 - 106566100 106566555 - 8490662 28422 AB019438;AC244452;M99677;NG_001019 3-50P;IGHV350 APPROVED pseudo HGNC:5608 VALIDATED 1343056 IGHV3-52 immunoglobulin heavy variable 3-52 (pseudogene) 14 14 14 q32.33 86980308 86980758 - 107042360 107042810 - 106586376 106586826 - 8490662 28421 AB019438;AC244452;M99678;NG_001019 3-52P;IGHV352 APPROVED pseudo HGNC:5609 VALIDATED 1347962 IGHV3-48 immunoglobulin heavy variable 3-48 28424 M99675 1715267;5124407 RH119884;RH69050 HGNC:5606 1346658 IGHV3-53 immunoglobulin heavy variable 3-53 28420 M99679 HGNC:5610 1353392 IGHV3-57 immunoglobulin heavy variable 3-57 (pseudogene) 14 14 14 q32.33 87012853 87013158 - 107074922 107075227 - 106618909 106619214 - 3097326 28418 AB019437;AB019438;AC244452;M29815;NG_001019 3-57P;IGHV357 APPROVED pseudo HGNC:5612 VALIDATED 1345313 IGHV3-54 immunoglobulin heavy variable 3-54 (pseudogene) 14 14 14 q32.33 86995287 86995734 - 107057348 107057795 - 106601336 106601792 - 8490662 28419 AB019437;AB019438;AC244452;M99680;NG_001019 3-54P;IGHV354 APPROVED pseudo HGNC:5611 VALIDATED 1349278 IGHV3-6 immunoglobulin heavy variable 3-6 (pseudogene) 14 14 14 q32.33 86442122 86442576 - 106511777 106512231 - 106055544 106055998 - 8490662 28453 AB019440;ABBA01074091;AC244226;M99650;NG_001019 3-06P;IGHV36 APPROVED pseudo HGNC:5613 VALIDATED 1348267 IGHV3-60 immunoglobulin heavy variable 3-60 (pseudogene) 14 14 14 q32.33 87025132 87025588 - 107087202 107087658 - 106631197 106631653 - 3097326 28417 AB019437;AB019438;AC244452;M29813;NG_001019 3-60P;IGHV360 APPROVED pseudo HGNC:5614 VALIDATED 1353459 IGHV3-62 immunoglobulin heavy variable 3-62 (pseudogene) 14 14 14 q32.33 87037433 87037888 - 107099133 107099588 - 106643130 106643585 - 3097326 28416 AB019437;ABBA01040614;AC245369;M29814;NG_001019 2122270 G36060 3-62P;IGHV362 APPROVED pseudo HGNC:5615 VALIDATED 1343103 IGHV3-64 immunoglobulin heavy variable 3-64 28414 M99682 1761069 SHGC-145014 HGNC:5617 1345177 IGHV3-65 immunoglobulin heavy variable 3-65 (pseudogene) 14 14 14 q32.33 87060341 87060835 - 107122054 107122548 - 106666038 106666532 - 7920635 28413 AB019437;ABBA01040613;AC245369;NG_001019;Z27503 3-65P;IGHV365 APPROVED pseudo HGNC:5618 VALIDATED 1349969 IGHV3-66 immunoglobulin heavy variable 3-66 28412 X92218 HGNC:5619 1344815 IGHV3-63 immunoglobulin heavy variable 3-63 (pseudogene) 14 14 14 q32.33 87046516 87046983 - 107108228 107108695 - 106652213 106652680 - 8490662 28415 AB019437;ABBA01040613;ABBA01040614;AC245369;M99681;NG_001019 IGHV363;V3-63P APPROVED pseudo HGNC:5616 VALIDATED 1349213 IGHV3-7 immunoglobulin heavy variable 3-7 28452 M99649 HGNC:5620 1350957 IGHV3-69-1 immunoglobulin heavy variable 3-69-1 (pseudogene) q32.33 16133446;7920635 28402 AJ879484;Z29981 CAA82871 IGHV3-H;IGHV3H APPROVED pseudo HGNC:5631 1349216 IGHV3-72 immunoglobulin heavy variable 3-72 28410 X92206 HGNC:5622 1352640 IGHV3-73 immunoglobulin heavy variable 3-73 28409 Z27508 HGNC:5623 1354426 IGHV3-74 immunoglobulin heavy variable 3-74 28408 Z12353 HGNC:5624 1346092 IGHV3-71 immunoglobulin heavy variable 3-71 (pseudogene) 14 14 14 q32.33 87136417 87136878 - 107183396 107183857 - 106775157 106775618 - 1404388;7920635;9841928 28411 AB019437;ABBA01040608;AC242528;AC245369;NG_001019;Z12336;Z29985 3-71P;IGHV3-G;IGHV371;IGHV3G APPROVED pseudo HGNC:5621 VALIDATED 1345151 IGHV3-75 immunoglobulin heavy variable 3-75 (pseudogene) 14 14 14 q32.33 87184940 87185409 - 107231908 107232377 - 106823678 106824147 - 19913121;20628086;7920635 28407 AB019437;AC245023;NG_001019;Z27510 3-75P;IGHV375 APPROVED pseudo HGNC:5625 VALIDATED 1342713 IGHV3-79 immunoglobulin heavy variable 3-79 (pseudogene) 14 14 14 q32.33 87228886 87229338 - 107275853 107276304 - 106867640 106868092 - 9841928 28405 AB019437;ABBA01040607;AMYH02029970;NG_001019 3-79P;IGHV379 APPROVED pseudo HGNC:5627 VALIDATED 1348416 IGHV3-9 immunoglobulin heavy variable 3-9 28451 M99651 HGNC:5628 1349343 IGHV3-D immunoglobulin heavy variable 3-D (provisional) 28404 Z18898 HGNC:5629 1343224 IGHV3-76 immunoglobulin heavy variable 3-76 (pseudogene) 14 14 14 q32.33 87189119 87189568 - 107236089 107236538 - 106827861 106828310 - 1404388 28406 AB019437;AC245023;NG_001019;Z12341 3-76P;IGHV376 APPROVED pseudo HGNC:5626 VALIDATED 1342573 IGHV3-G immunoglobulin heavy variable 3-G pseudogene (provisional) q32.32-q32.33 1404388 28403 Z12336 IGHV3G pseudo HGNC:5630 1350117 IGHV3OR15-7 immunoglobulin heavy variable 3/OR15-7 (pseudogene) 15 q11.1 20192722 20193418 - 21145461;7951227 28318 AMYH02029973;Z29597 CAA82714 IGHV3/OR15-7;IGHV3OR157 APPROVED pseudo HGNC:5633 MODEL 1350716 IGHV3OR16-10 immunoglobulin heavy variable 3/OR16-10 (non-functional) 16 p11.2 33006369 33006920 + 7951227 28306 AC142086;Z29607 CAA82724 IGHV3OR1610 pseudo HGNC:5634 1345362 IGHV3OR16-12 immunoglobulin heavy variable 3/OR16-12 (non-functional) 16 p11.2 33605231 33605778 + 7951227 28304 AC136428;Z29609 CAA82726 IGHV3OR1612 pseudo HGNC:5636 1353123 IGHV3OR16-11 immunoglobulin heavy variable 3/OR16-11 (pseudogene) 16 16 p11.2 33661269 33661819 - 33858802 33859352 - 7951227 28305 AC140658;AMYH02031940;Z29608 IGHV3OR1611 APPROVED pseudo HGNC:5635 MODEL 1347647 IGHV3OR16-13 immunoglobulin heavy variable 3/OR16-13 (non-functional) 16 16 16 p11.2 2382 2675 - 33629833 33630126 + 33827366 33827659 + 7951227 100287372 ABBA01007185;AC136428;AMYH02031940;NG_011771;Z29610 CAA82727 1680220 RH67822 IGHV3OR1613 pseudo HGNC:5637 INFERRED 1352012 IGHV3OR16-14 immunoglobulin heavy variable 3/OR16-14 (pseudogene) p11.2 7951227 100568447 Z29611 IGHV3OR1614 APPROVED pseudo HGNC:5638 1349167 IGHV3OR16-15 immunoglobulin heavy variable 3/OR16-15 (pseudogene) p11.2 7959766 28301 AC140658;L25546 IGHV3OR1615 APPROVED pseudo HGNC:5639 1352619 IGHV3OR16-16 immunoglobulin heavy variable 3/OR16-16 (pseudogene) p11.2 7951227 28300 AC142086;Z29613 IGHV3OR1616 APPROVED pseudo HGNC:5640 1353699 IGHV3OR16-6 immunoglobulin heavy variable 3/OR16-6 (pseudogene) 16 16 p11.2 32913355 32958154 + 32902034 32948497 + 7959766 647187 AC142086;AMYH02031902;L25545 IGHV3OR166 APPROVED pseudo HGNC:5641 MODEL 1344354 IGHV3OR16-7 immunoglobulin heavy variable 3/OR16-7 (pseudogene) 16 16 p11.2 33740716 33741266 - 33938339 33938639 - 7951227 28309 AC140658;AMYH02031940;NG_033846;Z29604 IGHV3/OR16-7;IGHV3OR167 APPROVED pseudo HGNC:5642 INFERRED 1349246 IGHV3OR16-8 immunoglobulin heavy variable 3/OR16-8 28308 Z29605 HGNC:5643 1352799 IGHV3OR16-9 immunoglobulin heavy variable 3/OR16-9 (non-functional) p11.2 7951227 28307 AC142381;Z29606 CAA82723 IGHV3OR169 pseudo HGNC:5644 1342874 IGHV4-28 immunoglobulin heavy variable 4-28 28400 X05714 2186963 RH65984 HGNC:5645 1348229 IGHV4-30-1 immunoglobulin heavy variable 4-30-1 28399 L10098 HGNC:5646 1345933 IGHV4-30-2 immunoglobulin heavy variable 4-30-2 8454861 28398 L10089 HGNC:5647 1350942 IGHV4-30-4 immunoglobulin heavy variable 4-30-4 28397 Z14238 HGNC:5648 1352297 IGHV4-34 immunoglobulin heavy variable 4-34 28395 X92278 HGNC:5650 1344694 IGHV4-31 immunoglobulin heavy variable 4-31 28396 L10098 1792436;2125530;2186963;5016350;5017143;5017296;5021504;5113752 A010A33;D14S1342;PMC151015P1;RH44825;RH47003;RH65984;RH66790;RH71306 HGNC:5649 1352456 IGHV4-39 immunoglobulin heavy variable 4-39 28394 L10094 2125530 RH47003 HGNC:5651 1349744 IGHV4-4 immunoglobulin heavy variable 4-4 28401 X62112 HGNC:5652 1351387 IGHV4-55 immunoglobulin heavy variable 4-55 (pseudogene) 14 14 14 q32.33 87000060 87000495 - 107062126 107062561 - 106606116 106606551 - 8490662 28393 AB019437;AB019438;ABBA01040614;AC244452;M99685;NG_001019 2125530 RH47003 4-55P;IGHV455 APPROVED pseudo HGNC:5653 VALIDATED 1352591 IGHV4-61 immunoglobulin heavy variable 4-61 28391 M29811 2122270 G36060 HGNC:5655 1348956 IGHV4-59 immunoglobulin heavy variable 4-59 28392 L10088 HGNC:5654 1350807 IGHV4-B immunoglobulin heavy variable 4-B (provisional) 28389 Z12367 HGNC:5657 1343362 IGHV4OR15-8 immunoglobulin heavy variable 4/OR15-8 FOUND IN extracellular region (inferred) 28317 A6NJ16 Z29598 HGNC:5658 1344364 IGHV5-51 immunoglobulin heavy variable 5-51 ASSOCIATED WITH Melanoma (inferred) 8554872 28388 M99686 1678039;1767771 RH75970;RH79161 HGNC:5659 1346822 IGHV4-80 immunoglobulin heavy variable 4-80 (pseudogene) 14 14 14 q32.33 87234029 87234432 - 107280994 107281394 - 106872783 106873186 - 9841928 28390 AB019437;ABBA01040607;AMYH02029970;NG_001019 4-80P;IGHV480 APPROVED pseudo HGNC:5656 VALIDATED 1344683 IGHV5-78 immunoglobulin heavy variable 5-78 (pseudogene) 14 14 14 q32.33 87212359 87212793 - 107259327 107259761 - 106851112 106851546 - 12477932;1373880;1903431;3396540 28387 AB019437;ABBA01040607;AC245023;BC002792;NG_001019;X58398;X58399;X92213 AAH02792;CAA41297 Hs.81221 1857784;2163349 RH70844;SHGC-36156 5-78P;IGHV578;MGC3963 APPROVED pseudo HGNC:5660 VALIDATED 1349679 IGHV5-A immunoglobulin heavy variable 5-A (provisional) 28386 X92227 HGNC:5661 1352160 IGHV6-1 immunoglobulin heavy variable 6-1 28385 X92224 HGNC:5662 1344982 IGHV7-27 immunoglobulin heavy variable 7-27 (pseudogene) 14 14 14 q32.33 86704576 86704989 - 106774086 106774499 - 106317823 106318236 - 8490662 28383 AB019439;ABBA01074095;AC245166;M99643;NG_001019 7-27P;IGHV727 APPROVED pseudo HGNC:5663 VALIDATED 1349724 IGHV7-34-1 immunoglobulin heavy variable 7-34-1 (pseudogene) 14 14 14 q32.33 86771152 86771585 - 106833231 106833664 - 106377300 106377733 - 9841928 28382 AB019439;ABBA01074102;AC245166;NG_001019 7-34.1P;IGHV7341 APPROVED pseudo HGNC:5664 VALIDATED 1345574 IGHV7-4-1 immunoglobulin heavy variable 7-4-1 57289 L10057 HGNC:5665 1347539 IGHV7-56 immunoglobulin heavy variable 7-56 (pseudogene) 14 14 14 q32.33 87003706 87004140 - 107065772 107066206 - 106609762 106610196 - 3097326 28380 AB019437;AB019438;AC244452;M29810;NG_001019 1740859 D14S1419 7-56P;IGHV756 APPROVED pseudo HGNC:5667 VALIDATED 1351699 IGHV7-81 immunoglobulin heavy variable 7-81 ASSOCIATED WITH Melanoma (inferred) 8554872 28378 Z27509 HGNC:5669 1346861 IGHV@ immunoglobulin heavy variable group INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); Fc-epsilon receptor signaling pathway (inferred); FOUND IN blood microparticle; extracellular vesicular exosome 1580863;6480464 1649888;3141924 3509 P01764 HGNC:5545 147070 1351214 IGHV7-40 immunoglobulin heavy variable 7-40 (pseudogene) 14 14 14 q32.33 86819203 86819405 - 106881264 106881466 - 106425359 106425561 - 8490662 28381 AB019439;ABBA01074103;AC244452;M99644;NG_001019 7-40P;IGHV740 APPROVED pseudo HGNC:5666 VALIDATED 1350344 IGHVII-1-1 immunoglobulin heavy variable (II)-1-1 (pseudogene) 14 14 14 q32.33 86341598 86342050 - 106410796 106411247 - 105944938 105945391 - 9841928 28377 AB019441;ABBA01074086;AC246787;NG_001019 4-01.1P;IGHVII11 APPROVED pseudo HGNC:5670 VALIDATED 1352159 IGHVII-20-1 immunoglobulin heavy variable (II)-20-1 (pseudogene) 14 14 14 q32.33 86599948 86600446 - 106669465 106669965 - 106212825 106213323 - 9841928 28375 AB019440;ABBA01074094;AC245166;NG_001019 4-20.1P;IGHVII201 APPROVED pseudo HGNC:5672 VALIDATED 1353411 IGHVII-15-1 immunoglobulin heavy variable (II)-15-1 (pseudogene) 14 14 14 q32.33 86550554 86550824 - 106620221 106620491 - 106163534 106163804 - 9841928 28376 AB019440;ABBA01074094;AC247036;NG_001019 4-15.1P;IGHVII151 APPROVED pseudo HGNC:5671 VALIDATED 1343081 IGHVII-26-2 immunoglobulin heavy variable (II)-26-2 (pseudogene) 14 14 14 q32.33 86701403 86701715 - 106770911 106771223 - 106314648 106314960 - 9841928 28373 AB019439;ABBA01074095;AC245166;NG_001019 4-26.2P;IGHVII262 APPROVED pseudo HGNC:5674 VALIDATED 1345337 IGHVII-28-1 immunoglobulin heavy variable (II)-28-1 (pseudogene) 14 14 14 q32.33 86716178 86716432 - 106785686 106785938 - 106329432 106329686 - 9841928 28372 AB019439;ABBA01074095;AC245166;NG_001019 4-28.1P;IGHVII281 APPROVED pseudo HGNC:5675 VALIDATED 1343403 IGHVII-30-1 immunoglobulin heavy variable (II)-30-1 (pseudogene) 14 14 q32.33 106798602 106798875 - 106342680 106342953 - 9841928 28371 AB019439;AC234301;AC245166;NG_001019 4-30.1P;IGHVII301 APPROVED pseudo HGNC:5676 VALIDATED 1352214 IGHVII-22-1 immunoglobulin heavy variable (II)-22-1 (pseudogene) 14 14 14 q32.33 86650445 86650713 - 106719953 106720221 - 106263360 106263628 - 9841928 28374 AB019439;ABBA01074094;AC245166;NG_001019 4-22.1P;IGHVII221 APPROVED pseudo HGNC:5673 VALIDATED 1352213 IGHVII-31-1 immunoglobulin heavy variable (II)-31-1 (pseudogene) 14 14 14 q32.33 605 707 + 106810541 106810643 - 106354616 106354718 - 9841928 28370 AB019439;AC234301;AC245166;NG_001019 BAA75041 4-31.1P;IGHVII311 APPROVED pseudo HGNC:5677 VALIDATED 1354053 IGHVII-33-1 immunoglobulin heavy variable (II)-33-1 (pseudogene) 14 14 q32.33 106823321 106823594 - 106367391 106367664 - 9841928 28369 AB019439;AC245166;NG_001019 4-33.1P;IGHVII331 APPROVED pseudo HGNC:5678 VALIDATED 1350523 IGHVII-40-1 immunoglobulin heavy variable (II)-40-1 (pseudogene) 14 14 14 q32.33 86834783 86834859 - 106896845 106896921 - 106440934 106441010 - 9841928 28368 AB019438;ABBA01074107;AC244452;NG_001019 4-40.1P;IGHVII401 APPROVED pseudo HGNC:5679 VALIDATED 1350298 IGHVII-43-1 immunoglobulin heavy variable (II)-43-1 (pseudogene) 14 14 14 q32.33 86866632 86866841 - 106928715 106928923 - 106472791 106473000 - 9841928 28367 AB019438;ABBA01074110;AC244452;NG_001019 4-43.1P;IGHVII431 APPROVED pseudo HGNC:5680 VALIDATED 1353840 IGHVII-44-2 immunoglobulin heavy variable (II)-44-2 (pseudogene) 14 14 14 q32.33 86888024 86888260 - 106950159 106950395 - 106494145 106494381 - 9841928 28366 AB019438;AC244452;NG_001019 1752313 SHGC-106213 4-44.2P;IGHVII442 APPROVED pseudo HGNC:5681 VALIDATED 1347468 IGHVII-46-1 immunoglobulin heavy variable (II)-46-1 (pseudogene) 14 14 14 q32.33 86909711 86909999 - 106971770 106972058 - 106515836 106516124 - 9841928 28365 AB019438;AC244452;NG_001019 4-46.1P;IGHVII461 APPROVED pseudo HGNC:5682 VALIDATED 1343001 IGHVII-51-2 immunoglobulin heavy variable (II)-51-2 (pseudogene) 14 14 14 q32.33 86978646 86978908 - 107040698 107040960 - 106584714 106584976 - 9841928 28363 AB019438;AC244452;NG_001019 4-51.2P;IGHVII512 APPROVED pseudo HGNC:5684 VALIDATED 1352185 IGHVII-49-1 immunoglobulin heavy variable (II)-49-1 (pseudogene) 14 14 14 q32.33 86958259 86958529 - 107020316 107020586 - 106564328 106564598 - 9841928 28364 AB019438;AC244452;NG_001019 4-49.1P;IGHVII491 APPROVED pseudo HGNC:5683 VALIDATED 1352222 IGHVII-53-1 immunoglobulin heavy variable (II)-53-1 (pseudogene) 14 14 14 q32.33 86993606 86993875 - 107055667 107055936 - 106599655 106599924 - 9841928 28362 AB019438;AC244452;NG_001019 4-53.1P;IGHVII531 APPROVED pseudo HGNC:5685 VALIDATED 1353730 IGHVII-60-1 immunoglobulin heavy variable (II)-60-1 (pseudogene) 14 14 14 q32.33 87031640 87031908 - 107093710 107093978 - 106637705 106637973 - 9841928 28361 AB019437;AC245369;NG_001019 4-60.1P;IGHVII601 APPROVED pseudo HGNC:5686 VALIDATED 1353897 IGHVII-65-1 immunoglobulin heavy variable (II)-65-1 (pseudogene) 14 14 14 q32.33 87066075 87066347 - 107127788 107128060 - 106671772 106672044 - 9841928 28359 AB019437;AC245369;NG_001019 4-65.1P;IGHVII651 APPROVED pseudo HGNC:5688 VALIDATED 1349091 IGHVII-67-1 immunoglobulin heavy variable (II)-67-1 (pseudogene) 14 14 14 q32.33 87080696 87080845 - 107142410 107142559 - 106686393 106686542 - 9841928 28358 AB019437;AC245369;NG_001019 4-67.1P;IGHVII671 APPROVED pseudo HGNC:5689 VALIDATED 1342623 IGHVII-74-1 immunoglobulin heavy variable (II)-74-1 (pseudogene) 14 14 14 q32.33 87182504 87182672 - 107229473 107229641 - 106821242 106821410 - 9841928 28357 AB019437;AC245023;NG_001019 4-74.1P;IGHVII741 APPROVED pseudo HGNC:5690 VALIDATED 1346536 IGHVII-78-1 immunoglobulin heavy variable (II)-78-1 (pseudogene) 14 14 14 q32.33 87226868 87227142 - 107273836 107274110 - 106865621 106865895 - 9841928 28356 AB019437;ABBA01040607;AMYH02029970;NG_001019 4-78.1P;IGHVII781 APPROVED pseudo HGNC:5691 VALIDATED 1350113 IGHVII-62-1 immunoglobulin heavy variable (II)-62-1 (pseudogene) 14 14 14 q32.33 87044819 87045091 - 107106520 107106792 - 106650516 106650788 - 9841928 28360 AB019437;AC245369;NG_001019 4-62.1P;IGHVII621 APPROVED pseudo HGNC:5687 VALIDATED 1343818 IGHVIII-13-1 immunoglobulin heavy variable (III)-13-1 (pseudogene) 14 14 14 q32.33 86529326 86529624 - 106598994 106599292 - 106142286 106142584 - 9841928 28351 AB019440;ABBA01074094;AC247036;NG_001019 3-13.1P;IGHVIII131 APPROVED pseudo HGNC:5693 VALIDATED 1346164 IGHVIII-16-1 immunoglobulin heavy variable (III)-16-1 (pseudogene) 14 14 14 q32.33 86557767 86558071 - 106627436 106627740 - 106170746 106171051 - 9841928 28350 AB019440;ABBA01074094;AC247036;NG_001019 3-16.1P;IGHVIII161 APPROVED pseudo HGNC:5694 VALIDATED 1354316 IGHVIII-11-1 immunoglobulin heavy variable (III)-11-1 (pseudogene) 14 14 14 q32.33 86507221 86507407 - 106576885 106577071 - 106120289 106120475 - 9841928 28352 AB019440;ABBA01074094;AC247036;NG_001019 3-11.1P;IGHVIII111 APPROVED pseudo HGNC:5692 VALIDATED 1351788 IGHVIII-2-1 immunoglobulin heavy variable (III)-2-1 (pseudogene) 14 14 14 q32.33 86397403 86397704 - 106467677 106467978 - 106001534 106001835 - 9841928 28355 AB019441;ABBA01074086;AC244226;NG_001019 3-02.1P;IGHVIII21 APPROVED pseudo HGNC:5695 VALIDATED 1348317 IGHVIII-25-1 immunoglobulin heavy variable (III)-25-1 (pseudogene) 14 14 14 q32.33 86680655 86680896 - 106750160 106750401 - 106293566 106293807 - 9841928 28348 AB019439;ABBA01074095;AC245166;NG_001019 3-25.1P;IGHVIII251 APPROVED pseudo HGNC:5697 VALIDATED 1351840 IGHVIII-26-1 immunoglobulin heavy variable (III)-26-1 (pseudogene) 14 14 14 q32.33 86696162 86696468 - 106765667 106765973 - 106309406 106309712 - 9841928 28347 AB019439;ABBA01074095;AC245166;NG_001019 3-26.1P;IGHVIII261 APPROVED pseudo HGNC:5698 VALIDATED 1353669 IGHVIII-38-1 immunoglobulin heavy variable (III)-38-1 (pseudogene) 14 14 14 q32.33 86811872 86812164 - 106873935 106874227 - 106418018 106418310 - 9841928 28346 AB019439;ABBA01074103;AC244452;AC245166;NG_001019 3-38.1P;38-1;IGHVIII381 APPROVED pseudo HGNC:5699 VALIDATED 1349609 IGHVIII-22-2 immunoglobulin heavy variable (III)-22-2 (pseudogene) 14 14 14 q32.33 86651771 86651958 - 106721279 106721466 - 106264686 106264873 - 9841928 28349 AB019439;ABBA01074094;AC245166;NG_001019 3-22.2P;IGHVIII222 APPROVED pseudo HGNC:5696 VALIDATED 1351752 IGHVIII-47-1 immunoglobulin heavy variable (III)-47-1 (pseudogene) 14 14 14 q32.33 86925075 86925378 - 106987135 106987438 - 106531133 106531436 - 9841928 28344 AB019438;AC244452;NG_001019 3-47.1P;IGHVIII471 APPROVED pseudo HGNC:5701 VALIDATED 1346545 IGHVIII-5-1 immunoglobulin heavy variable (III)-5-1 (pseudogene) 14 14 14 q32.33 86426243 86426341 - 106495898 106495996 - 106039666 106039764 - 9841928 28354 AB019440;ABBA01074091;AC244226;NG_001019 3-05.1P;IGHVIII51 APPROVED pseudo HGNC:5702 VALIDATED 1343316 IGHVIII-5-2 immunoglobulin heavy variable (III)-5-2 (pseudogene) 14 14 14 q32.33 86432177 86432437 - 106501831 106502091 - 106045600 106045860 - 9841928 28353 AB019440;ABBA01074091;AC244226;NG_001019 3-05.2P;IGHVIII52 APPROVED pseudo HGNC:5703 VALIDATED 1352642 IGHVIII-44 immunoglobulin heavy variable (III)-44 (pseudogene) 14 14 14 q32.33 86872102 86872278 - 106934223 106934399 - 106478217 106478393 - 8490662 28345 AB019438;AC244452;M99673;NG_001019 3-44P;IGHVIII44 APPROVED pseudo HGNC:5700 VALIDATED 1351684 IGHVIII-51-1 immunoglobulin heavy variable (III)-51-1 (pseudogene) 14 14 14 q32.33 86977431 86977737 - 107039488 107039794 - 106583501 106583807 - 9841928 28343 AB019438;AC244452;NG_001019 3-51.1P;IGHVIII511 APPROVED pseudo HGNC:5704 VALIDATED 1347559 IGHVIII-67-2 immunoglobulin heavy variable (III)-67-2 (pseudogene) 14 14 14 q32.33 87081405 87081503 - 107143119 107143217 - 106687102 106687200 - 9841928 28342 AB019437;AC245369;NG_001019 3-67.2P;IGHVIII672 APPROVED pseudo HGNC:5705 VALIDATED 1350346 IGHVIII-67-3 immunoglobulin heavy variable (III)-67-3 (pseudogene) 14 14 14 q32.33 87086917 87087191 - 107148631 107148905 - 106692614 106692888 - 9841928 28341 AB019437;AC245369;NG_001019 3-67.3P;IGHV(III)-6;IGHVIII673 APPROVED pseudo HGNC:5706 VALIDATED 1342992 IGHVIII-76-1 immunoglobulin heavy variable (III)-76-1 (pseudogene) 14 14 14 q32.33 87193021 87193327 - 107239990 107240296 - 106831763 106832069 - 9841928 28339 AB019437;AC245023;NG_001019 3-76.1P;IGHVIII761 APPROVED pseudo HGNC:5708 VALIDATED 1348621 IGHVIII-82 immunoglobulin heavy variable (III)-82 (pseudogene) 14 14 14 q32.33 87240798 87241089 - 107287760 107288051 - 106879553 106879844 - 9841928 28338 AB019437;ABBA01040607;AMYH02029970;NG_001019 3-82P;IGHVIII82 APPROVED pseudo HGNC:5709 VALIDATED 1353158 IGHVIII-67-4 immunoglobulin heavy variable (III)-67-4 (pseudogene) 14 14 14 q32.33 87089395 87089700 - 107151109 107151414 - 106695092 106695397 - 9841928 28340 AB019437;AC245369;NG_001019 3-67.4P;IGHVIII674 APPROVED pseudo HGNC:5707 VALIDATED 1351217 IGHVOR15@ immunoglobulin heavy variable orphans on chromosome 15 7829065 3510 HGNC:5711 1342980 IGHVOR16@ immunoglobulin heavy variable orphans on chromosome 16 7829065;7959766 3511 HGNC:5712 1349016 IGHVIV-44-1 immunoglobulin heavy variable (IV)-44-1 (pseudogene) 14 14 14 q32.33 86883218 86883646 - 106945349 106945777 - 106489342 106489770 - 9841928 28337 AB019438;AC244452;NG_001019 (IV)-44;4-44.1P;IGHVIV441 APPROVED pseudo HGNC:5710 VALIDATED 1604414 IGIP IgA-inducing protein FOUND IN extracellular region (inferred); INTERACTS WITH lead(0); lead(2+); valproic acid 5 5 5 q31 135581337 135584207 + 139505521 139508391 + 140125936 140128806 + 6480464 12477932;12874223;19201837;19322201;21074276 492311 A6NJ69 AB073888;ABBA01026440;AC011379;AMYH02012325;BC017422;BC041380;CD516511;CH471062;NM_001007189 A6NJ69;AAH17422;EAW62075;NP_001007190 Hs.696360 1735534;2178048 D5S1666E;SHGC-57373 C5orf53 IgA-inducing protein (Bos taurus);IgA-inducing protein homolog;IgA-inducing protein homolog (Bos taurus);OTTHUMP00000223658 APPROVED protein-coding ENSG00000182700 HGNC:33847 17411 VALIDATED 1353698 IGJP1 immunoglobulin J polypeptide pseudogene 1 8 8 8 q21.2 81896656 81898256 - 85891209 85892805 - 84978974 84980570 - 7916122 3513 ABBA01004017;AC142447;AMYH02018347;NG_009863;S74134 pseudo HGNC:5714 INFERRED 1320892 IGJ immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides ENCODES a protein that exhibits IgA binding; immunoglobulin receptor binding; peptidoglycan binding; INVOLVED IN adaptive immune response; antibacterial humoral response; glomerular filtration; ASSOCIATED WITH Melanoma (inferred); FOUND IN blood microparticle; dimeric IgA immunoglobulin complex; extracellular space; INTERACTS WITH (-)-demecolcine; arsenite(3-); ethyl methanesulfonate 4 4 4 q21 68878257 68889347 - 71521258 71532348 - 70655541 70676903 - 1580863;6480464;8554872 115892;12477932;1292512;14718574;1472500;15084671;15342556;16335952;16502470;16740002;17237408;19199708;20237496;20947433;2113434;2120591;21906983;2415140;24706782;2984306;3016707;3146624;407930;6417260;6774844;7664491;8168154;8196286;8253928;8666793;8683109 3512 C9JA05;D6RD17;D6RHJ6;P01591 ABBA01022933;ABBA01022934;AC009570;AK312014;AMYH02009423;AX887978;AX887979;BC038982;BP221304;BP261870;BP418109;CH471057;DQ884395;HD066556;M12759;NM_144646;XM_006714211;XM_006714212 AAA58902;AAH38982;ABI63362;BAG34952;CAE93903;CAE93904;CBU30463;EAX05626;NP_653247;P01591;XP_006714274;XP_006714275 Hs.643431 2133941;2170906;2171862;2171939;2183715;5092794 A006E40;G32334;SHGC-24829;SHGC-33685;SHGC-50574;SHGC-59539 IGCJ;JCH IgJ chain;OTTHUMP00000160357;OTTHUMP00000216416;OTTHUMP00000219133;OTTHUMP00000219134;OTTHUMP00000219135;immunoglobulin J chain protein-coding ENSG00000132465 HGNC:5713 00991 147790 VALIDATED 1342699 IGK immunoglobulin kappa locus 2 2 2 p12 88649136 88653160 + 89890568 90274235 + 89851758 90235368 + 6480464 10477713;12100030;12477932;12552516;12615002;15356136;15517630;16508097;16622520;17546032;17600686;19072568;20505143;21906983;22120970;22396784;22503879;22705988;23376556;24598740;9887257 50802 Q6PJF2 AC009958;AC073416;AC096579;AC096767;AC110080;AC113612;AC116654;AC233264;AC243970;AC243981;AC244205;AC244255;AC245015;AC245506;AC247037;AF103353;AJ239369;AK129807;AP001209;AP001210;AP001211;AP001212;AP001213;AP001215;AP001216;AP001217;AP001218;AP001219;AP001220;AP001221;AP001222;AP001223;AP001224;AP001225;AP001226;AP001228;AP001229;AP001230;AP001231;AP001232;AP001233;AP001235;AP001236;AP001238;AP001239;AP001240;AP001241;AP001242;AP001243;AP001244;AP001245;AP001246;AP001248;AP001249;BC016380;BC030813;BC032451;BC062704;NG_000833;NG_000834 AAD20522;AAH16380;AAH30813;AAH32451;AAH62704;AAY14814;AAY24201;ADZ15883;BAC85236;CAB37162 Hs.449609;Hs.719895 1652373;1659768;1700874;1741233;1741493;1743659;1756703;1757605;1760013;1761213;1765139;1766541;1784018;1791932;2127441;2133800;2135173;2155025;2165163;2178410;2180216;2187355;5120115 D18S549;D21S1241;D2S1786;D2S2846;GDB:179398;GDB:181248;GDB:196847;GDB:364093;PMC133732P6;RH104063;RH66797;RH66821;RH68319;RH70349;SHGC-106094;SHGC-12268;SHGC-143796;SHGC-143963;SHGC-145092;SHGC-145223;SHGC-148658;SHGC-149860;SHGC-15049 FLJ26296;IGK@;IGKC;MGC22645;MGC27376;MGC40426;MGC71990 APPROVED protein-coding HGNC:5715 VALIDATED 1345887 IGKC immunoglobulin kappa constant INVOLVED IN retina homeostasis; FOUND IN blood microparticle; extracellular space; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; cadmium atom; ethyl methanesulfonate 1580863;6480464;7240710 10354514 3514 P01834 J00241 1741233;1741493;1760013;1791932;2135173;2187355;5120111;5120113;5120115 D2S2846;GDB:179398;GDB:181248;GDB:196845;GDB:196846;GDB:196847;PMC133732P6;RH70349;SHGC-106094 HGNC:5716 147200;614102 1353657 IGKDEL immunoglobulin kappa deleting element or like 3086844 3515 X03957 HGNC:5717 146780 1353506 IGKJ1 immunoglobulin kappa joining 1 6480464 28950 J00242 HGNC:5719 1344808 IGKJ2 immunoglobulin kappa joining 2 28949 J00242 HGNC:5720 1350357 IGKJ4 immunoglobulin kappa joining 4 28947 J00242 2165163 RH68319 HGNC:5722 1349186 IGKJ5 immunoglobulin kappa joining 5 28946 J00242 2165163 RH68319 HGNC:5723 1351180 IGKJ@ immunoglobulin kappa joining group 7842 HGNC:5718 146970 1343953 IGKJ3 immunoglobulin kappa joining 3 28948 J00242 HGNC:5721 1346316 IGKV1-12 immunoglobulin kappa variable 1-12 28940 V01577 HGNC:5730 1348867 IGKV1-13 immunoglobulin kappa variable 1-13 28939 Z00010 HGNC:5731 1350693 IGKV1-16 immunoglobulin kappa variable 1-16 28938 J00248 HGNC:5732 1353950 IGKV1-17 immunoglobulin kappa variable 1-17 28937 X72808 HGNC:5733 1606309 IGKV1-22 immunoglobulin kappa variable 1-22 (pseudogene) 2 2 2 p12 1349 1816 + 89470229 89470696 - 89170745 89171212 - 8011175 28936 AC110080;AC245015;AP001222;AP001243;NG_000834 A25;IGKV122 APPROVED pseudo HGNC:5734 VALIDATED 1606310 IGKV1-32 immunoglobulin kappa variable 1-32 (pseudogene) 2 2 p12 89553027 89553501 - 89253541 89254015 - 8011175 28934 AC110080;AC244255;AP001219;AP001226;NG_000834 A15;A15a;IGKV132 APPROVED pseudo HGNC:5736 VALIDATED 1348888 IGKV1-27 immunoglobulin kappa variable 1-27 28935 X63398 1659768;2178410 D18S549;D2S1786 HGNC:5735 1348598 IGKV1-33 immunoglobulin kappa variable 1-33 28933 M64856 HGNC:5737 1353789 IGKV1-35 immunoglobulin kappa variable 1-35 (pseudogene) 2 2 p12 89586453 89586927 - 89286696 89287170 - 8011175 28932 AC110080;AC244255;AP001217;NG_000834;X71890 IGKV135;O16 APPROVED pseudo HGNC:5738 VALIDATED 1353503 IGKV1-39 immunoglobulin kappa variable 1-39 28930 X59315 HGNC:5740 1346135 IGKV1-5 immunoglobulin kappa variable 1-5 INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); Fc-epsilon receptor signaling pathway (inferred); FOUND IN blood microparticle; extracellular vesicular exosome; INTERACTS WITH ibuprofen 1580863;6480464 28299 P01602 Z00001 1741233;1741493;1761213;2135173;2180216;2187355;5120113 D2S2846;GDB:179398;GDB:181248;GDB:196846;RH66821;RH70349;SHGC-145223 HGNC:5741 1347935 IGKV1-37 immunoglobulin kappa variable 1-37 28931 X59316 HGNC:5739 1353729 IGKV1-6 immunoglobulin kappa variable 1-6 28943 M64858 HGNC:5742 1348780 IGKV1-8 immunoglobulin kappa variable 1-8 28942 Z00014 HGNC:5743 1346056 IGKV1-9 immunoglobulin kappa variable 1-9 28941 Z00013 HGNC:5744 1346046 IGKV1D-12 immunoglobulin kappa variable 1D-12 28903 X17263 HGNC:5746 1348481 IGKV1D-13 immunoglobulin kappa variable 1D-13 INTERACTS WITH zinc atom; zinc(0) 6480464 28902 X17262 HGNC:5747 1345259 IGKV1D-16 immunoglobulin kappa variable 1D-16 28901 K01323 HGNC:5748 1347822 IGKV1D-17 immunoglobulin kappa variable 1D-17 28900 X63392 HGNC:5749 1343491 IGKV1D-27 immunoglobulin kappa variable 1D-27 (pseudogene) 2 2 p12 90007679 90008154 + 89968869 89969344 + 11298326;24097068;6087279 28898 AC009958;AC233264;AP001216;AP001224;NG_000833;Z00004 1659768;2178410 D18S549;D2S1786 A4;A4a;IGKV1D27 APPROVED pseudo HGNC:5751 VALIDATED 1606560 IGKV1D-32 immunoglobulin kappa variable 1D-32 (pseudogene) 2 2 p12 89967232 89967706 + 89928422 89928896 + 11298326 28897 AC009958;AC233264;AP001220;AP001235;NG_000833 IGKV1D32;O9 APPROVED pseudo HGNC:5752 VALIDATED 1346586 IGKV1D-33 immunoglobulin kappa variable 1D-33 INTERACTS WITH zinc atom; zinc(0) 6480464 28896 M64855 HGNC:5753 1606559 IGKV1D-22 immunoglobulin kappa variable 1D-22 (pseudogene) 2 2 p12 90049551 90050018 + 90010741 90011208 + 11298326;8011175 28899 AC009958;AC245506;AP001232;NG_000833 A9;IGKV1D22 APPROVED pseudo HGNC:5750 VALIDATED 1350906 IGKV1D-37 immunoglobulin kappa variable 1D-37 28894 X71893 HGNC:5755 1351934 IGKV1D-35 immunoglobulin kappa variable 1D-35 (pseudogene) 2 2 2 p12 3374 3848 + 89934124 89934598 + 89895314 89895788 + 11298326 28895 AC009958;AC233264;AP001220;NG_000833;X71894 IGKV1D35;O6 APPROVED pseudo HGNC:5754 VALIDATED 1346160 IGKV1D-39 immunoglobulin kappa variable 1D-39 28893 X59312 HGNC:5756 1343408 IGKV1D-42 immunoglobulin kappa variable 1D-42 28892 X72816 HGNC:5757 1352839 IGKV1D-43 immunoglobulin kappa variable 1D-43 28891 X72817 HGNC:5758 1352280 IGKV1D-8 immunoglobulin kappa variable 1D-8 28904 Z00008 HGNC:5759 1352379 IGKV1OR-3 immunoglobulin kappa variable 1/OR-3 (pseudogene) 9 q12 70394426 70396639 - 1596359 644731 BX284632;X64641 IGKV1/OR-3;IGKV1OR3;IGKVPZ3 APPROVED pseudo HGNC:5762 1347385 IGKV1OR-4 immunoglobulin kappa variable 1/OR-4 (pseudogene) 1596359 3534 X64642 IGKV1/OR-4;IGKV1OR4;IGKVPZ4 APPROVED pseudo HGNC:5763 1345957 IGKV1OR1-1 immunoglobulin kappa variable 1/OR1-1 (pseudogene) 1 p13-q12 901035 901511 + 2853099 3525 AC244015;AC246680;M20809;NG_011766 AAA36094 IGKV1/OR1-1;IGKV1OR11;IGKVP1 APPROVED pseudo HGNC:5764 INFERRED 1353188 IGKV1OR-2 immunoglobulin kappa variable 1/OR-2 (pseudogene) 9 9 69777474 69777957 - 64765056 64765539 - 1596359;2853098 3532 AL359955;NG_011657;X64640 IGKV1/OR-2;IGKV1OR2;IGKVPZ2 APPROVED pseudo HGNC:5761 INFERRED 1342629 IGKV1OR2-0 immunoglobulin kappa variable 1/OR2-0 28867 Y08392 HGNC:5766 1602135 IGKV1OR2-1 immunoglobulin kappa variable 1/OR2-1 (pseudogene) p11.1 2853098 3531 M20813 IGKV1/OR-1;IGKV1/OR2-1;IGKV1OR-1;IGKV1OR1;IGKVPZ1 APPROVED pseudo HGNC:5760 1342671 IGKV1OR2-108 immunoglobulin kappa variable 1/OR2-108 28862 X51887 HGNC:5767 147185 1344205 IGKV1OR2-11 immunoglobulin kappa variable 1/OR2-11 (pseudogene) 2111145 28863 X51885 IGKV1OR211 APPROVED pseudo HGNC:5768 1350476 IGKV1OR2-118 immunoglobulin kappa variable 1/OR2-118 (pseudogene) INTERACTS WITH all-trans-retinoic acid; tamibarotene 2 2 p11.1 91678778 91679547 + 90315192 90315961 - 6480464 2853099 339562 AC018696;AC145029;AC233263;M20812;NG_011659 AAA36095 IGKV1OR118;IGKVP2 APPROVED pseudo HGNC:37488 INFERRED 1354448 IGKV1OR2-3 immunoglobulin kappa variable 1/OR2-3 (pseudogene) 3037085 28866 X05102 IGKV1/OR2-3;IGKV1OR23 APPROVED pseudo HGNC:5769 1352698 IGKV1OR2-6 immunoglobulin kappa variable 1/OR2-6 (pseudogene) 3037085 28865 X05103 IGKV1/OR2-6;IGKV1OR26 APPROVED pseudo HGNC:5770 1353773 IGKV1OR2-9 immunoglobulin kappa variable 1/OR2-9 (pseudogene) 2111145 28864 X51879 IGKV1/OR2-9;IGKV1OR29 APPROVED pseudo HGNC:5771 1346651 IGKV1OR22-1 immunoglobulin kappa variable 1/OR22-1 (pseudogene) 22 22 22 q11.1 1035891 1037817 - 17413617 17415543 - 16932727 16934653 - 3083265 3530 ABBA01001460;AC006548;AMYH02037984;NG_011658;Z00040 IGKV1OR221;IGKVP5 APPROVED pseudo HGNC:5772 INFERRED 1348301 IGKV1OR22-5 immunoglobulin kappa variable 1/OR22-5 6087279 28850 Z00003 HGNC:5773 8662217 IGKV1OR9-1 immunoglobulin kappa variable 1/OR9-1 (pseudogene) q21.11 103352540 AL512605;NG_034159 IGKV1/OR9-1 pseudo HGNC:49473 INFERRED 3029189 IGKV1ORY-1 immunoglobulin kappa variable 1/ORY-1 (pseudogene) Y q11.21 13629413 13631274 - 9847074 439957 AC134879;XM_001714338;XM_001716705;XM_003403556 XP_001714390;XP_001716757;XP_003403604 IGKV1/ORY-1 APPROVED pseudo HGNC:37729 1353891 IGKV2-10 immunoglobulin kappa variable 2-10 (pseudogene) 2 2 p12 89319489 89320182 - 89019992 89020685 - 6086934 28928 AC096767;AC245015;AP001209;AP001231;NG_000834;Z00012 IGKV210;L7 APPROVED pseudo HGNC:5776 VALIDATED 1353601 IGKV2-14 immunoglobulin kappa variable 2-14 (pseudogene) 2 2 2 p12 1027 1792 + 89377515 89378280 - 89078019 89078784 - 8223863 28927 AC116654;AC245015;AP001228;NG_000834;X72810 IGKV214;L3 APPROVED pseudo HGNC:5777 VALIDATED 1351012 IGKV2-18 immunoglobulin kappa variable 2-18 (pseudogene) 2 2 2 p12 88771611 88772387 - 89428189 89428965 - 89128706 89129482 - 1551402 28926 AC116654;AC245015;AP001243;NG_000834;X63400 A29;IGKV218 APPROVED pseudo HGNC:5778 VALIDATED 1349374 IGKV2-19 immunoglobulin kappa variable 2-19 (pseudogene) 2 2 2 p12 88777886 88778152 - 89434464 89434730 - 89134981 89135247 - 3351922 28925 AC116654;AC245015;AP001243;NG_000834;X12692 A28;IGKV219 APPROVED pseudo HGNC:5779 VALIDATED 1606311 IGKV2-23 immunoglobulin kappa variable 2-23 (pseudogene) 2 2 2 p12 2643 3023 + 89471812 89472527 - 89172328 89173043 - 8011175 28924 AC110080;AC245015;AP001222;AP001243;NG_000834 A24;IGKV223 APPROVED pseudo HGNC:5780 VALIDATED 1348441 IGKV2-24 immunoglobulin kappa variable 2-24 28923 X12684 1741233;1741493;2135173;2187355;5120113 D2S2846;GDB:179398;GDB:181248;GDB:196846;RH70349 HGNC:5781 1349377 IGKV2-28 immunoglobulin kappa variable 2-28 28921 X63397 1761213 SHGC-145223 HGNC:5783 1354436 IGKV2-29 immunoglobulin kappa variable 2-29 (gene/pseudogene) 2 2 p12 89533666 89534392 - 89234185 89234911 - 1551402 28920 AC110080;AC244255;AP001226;NG_000834;X63396 A18;A18b;IGKV229 pseudo HGNC:5784 VALIDATED 1349568 IGKV2-30 immunoglobulin kappa variable 2-30 28919 X63403 HGNC:5785 1347129 IGKV2-36 immunoglobulin kappa variable 2-36 (pseudogene) 2 2 p12 89594981 89595214 - 89295224 89295457 - 8011175 28918 AC110080;AC244255;AP001217;NG_000834;X71889 1756703;1757605 SHGC-143796;SHGC-145092 IGKV236;O15 APPROVED pseudo HGNC:5786 VALIDATED 1342503 IGKV2-26 immunoglobulin kappa variable 2-26 (pseudogene) 2 2 p12 89495564 89496317 - 89196076 89196829 - 17847085;8011175 28922 AC110080;AC244255;AP001222;AP001238;NG_000834;X71884 A21;IGKV226 APPROVED pseudo HGNC:5782 VALIDATED 1352208 IGKV2-4 immunoglobulin kappa variable 2-4 (pseudogene) 2 2 2 p12 87557410 87558137 + 89231169 89231896 - 88931651 88932378 - 8223863 28929 AC096767;AC243970;AP001240;NG_000834;X72814 CAA51333 IGKV24;L13 APPROVED pseudo HGNC:5788 VALIDATED 1347989 IGKV2-40 immunoglobulin kappa variable 2-40 28916 X59314 HGNC:5789 1349614 IGKV2-38 immunoglobulin kappa variable 2-38 (pseudogene) 2 2 2 p12 555 794 + 89609660 89609899 - 89309903 89310142 - 8011175 28917 AC110080;AC244255;AP001239;NG_000834;X71888 2155025 D21S1241 IGKV238;O13 APPROVED pseudo HGNC:5787 VALIDATED 1346744 IGKV2D-10 immunoglobulin kappa variable 2D-10 (pseudogene) 2 2 2 p12 25309193 25310734 + 90218731 90219496 + 90179890 90180655 + 11298326;3927006;8223863 28890 AC073416;AC243981;AP001210;AP001223;NG_000833;X17265 IGKV2D10;L21 APPROVED pseudo HGNC:5792 VALIDATED 1353283 IGKV2D-18 immunoglobulin kappa variable 2D-18 (pseudogene) 2 2 2 p12 88771611 88772387 - 90091428 90092204 + 90052582 90053358 + 11298326;1551402 28888 AC009958;AC245506;AP001212;AP001236;NG_000833;X63395 A13;IGKV2D18 APPROVED pseudo HGNC:5794 VALIDATED 1353585 IGKV2D-19 immunoglobulin kappa variable 2D-19 (pseudogene) 2 2 2 p12 88777886 88778152 - 90085638 90085904 + 90046806 90047072 + 11298326;8011175 28887 AC009958;AC245506;AP001212;AP001236;NG_000833;X71882 A12;IGKV2D19 APPROVED pseudo HGNC:5795 VALIDATED 1606561 IGKV2D-23 immunoglobulin kappa variable 2D-23 (pseudogene) 2 2 2 p12 2643 3023 + 90047721 90048726 + 90008911 90009916 + 11298326;23213074;8011175 28886 AC009958;AC245506;AP001232;NG_000833 A8;IGKV2D23 APPROVED pseudo HGNC:5796 VALIDATED 1345468 IGKV2D-14 immunoglobulin kappa variable 2D-14 (pseudogene) 2 2 p12 90160639 90161404 + 90121787 90122552 + 11298326;8223863 28889 AC073416;AC243981;AP001213;NG_000833;X72811 IGKV2D14;L17 APPROVED pseudo HGNC:5793 VALIDATED 1354043 IGKV2D-24 immunoglobulin kappa variable 2D-24 28885 X63401 HGNC:5797 1342921 IGKV2D-26 immunoglobulin kappa variable 2D-26 INTERACTS WITH titanium dioxide (ortholog) 2 2 2 p12 1 507 - 90024762 90025514 + 89985952 89986704 + 6480464 11298326;3351922 28884 ABBA01016125;AC009958;AC233264;AP001216;NG_000833;X12689 A5;IGKV2D26 pseudo HGNC:5798 VALIDATED 1349736 IGKV2D-28 immunoglobulin kappa variable 2D-28 ASSOCIATED WITH Lung Neoplasms (inferred) 8554872 28883 X12691 1761213 SHGC-145223 HGNC:5799 1353346 IGKV2D-29 immunoglobulin kappa variable 2D-29 28882 M31952 HGNC:5800 1349672 IGKV2D-30 immunoglobulin kappa variable 2D-30 28881 X63402 HGNC:5801 1606562 IGKV2D-36 immunoglobulin kappa variable 2D-36 (pseudogene) 2 2 2 p12 3613 3846 + 89925831 89926064 + 89887021 89887254 + 11298326;8011175 28880 AC009958;AC233264;AP001221;NG_000833 1756703;1757605 SHGC-143796;SHGC-145092 IGKV2D36;O5 APPROVED pseudo HGNC:5802 VALIDATED 1348984 IGKV2D-40 immunoglobulin kappa variable 2D-40 28878 X59311 HGNC:5804 1345030 IGKV2OR2-1 immunoglobulin kappa variable 2/OR2-1 (pseudogene) 3037085;8011175 28861 X05101;X76074 IGKV2/OR2-1;IGKV2OR2-1A;IGKV2OR21;IGKV2OR21A APPROVED pseudo HGNC:5805 1348675 IGKV2OR2-10 immunoglobulin kappa variable 2/OR2-10 (pseudogene) 2 2 97996726 97997444 - 97376255 97376973 + 2111145 28855 AC092683;AC159540;NG_011661;X51886 IGKV2OR210 APPROVED pseudo HGNC:5806 INFERRED 1353082 IGKV2D-38 immunoglobulin kappa variable 2D-38 (pseudogene) 2 2 p12 89911273 89911512 + 89872463 89872702 + 11298326;8011175 28879 AC233264;AP001221;NG_000833;X71892 2155025 D21S1241 IGKV2D38;O3 APPROVED pseudo HGNC:5803 VALIDATED 1343795 IGKV2OR2-2 immunoglobulin kappa variable 2/OR2-2 (pseudogene) q11.2 2111145 28859 AC018892;X51884 IGKV2/OR2-2;IGKV2OR22 APPROVED pseudo HGNC:5808 1350358 IGKV2OR2-4 immunoglobulin kappa variable 2/OR2-4 (pseudogene) 2111145 28858 X51883 IGKV2/OR2-4;IGKV2OR24 APPROVED pseudo HGNC:5809 1353656 IGKV2OR2-7 immunoglobulin kappa variable 2/OR2-7 (pseudogene) 2 2 q11.2 98000700 98001604 - 97372095 97372999 + 2111145 652873 ABBA01187905;AC092683;AC159540;NG_011671;X51881 IGKV2/OR2-7;IGKV2OR27 APPROVED pseudo HGNC:5810 INFERRED 3398733 IGKV2OR2-7D immunoglobulin kappa variable 2/OR2-7D (pseudogene) 2 2 q11.2 98037040 98038079 + 97335620 97336659 - 100310869 AC092683;AC159540;NG_033269 APPROVED pseudo HGNC:37489 INFERRED 1345359 IGKV2OR22-3 immunoglobulin kappa variable 2/OR22-3 (pseudogene) 22 22 22 q11.1 1024487 1025100 - 17402214 17402827 - 16921324 16921937 - 3083265 3529 ABBA01001460;AC006548;AMYH02037984;NG_011670;Z00041 IGKV2OR223;IGKVP4 APPROVED pseudo HGNC:5812 INFERRED 1351147 IGKV2OR22-4 immunoglobulin kappa variable 2/OR22-4 (pseudogene) 22 22 22 q11 1017223 1018336 - 17394954 17396067 - 16914064 16915177 - 2853099 28847 ABBA01001460;AC006548;AMYH02037983;M20707;NG_011660 AAA36093 5124968 RH77903 IGKV2OR224;IGKVP6 APPROVED pseudo HGNC:5813 INFERRED 1353908 IGKV3-11 immunoglobulin kappa variable 3-11 28914 X01668 HGNC:5815 1349622 IGKV3-15 immunoglobulin kappa variable 3-15 28913 M23090 2133800;2180216 RH66797;RH66821 HGNC:5816 1345528 IGKV3-20 immunoglobulin kappa variable 3-20 28912 X12686 HGNC:5817 1351765 IGKV2OR2-8 immunoglobulin kappa variable 2/OR2-8 (pseudogene) 2 2 98041194 98042288 + 97331411 97332505 - 2111145 100996600 AC092683;AC159540;NG_011662;X51880 IGKV2/OR2-8;IGKV2OR28 APPROVED pseudo HGNC:5811 INFERRED 1343856 IGKV3-25 immunoglobulin kappa variable 3-25 (pseudogene) 2 2 2 p12 2922 3505 - 89491979 89493756 - 89192491 89194268 - 2825139 28911 AC110080;AC245015;AP001222;AP001238;NG_000834;X06583 A22;IGKV325 APPROVED pseudo HGNC:5818 VALIDATED 1606312 IGKV3-31 immunoglobulin kappa variable 3-31 (pseudogene) 2 2 p12 89551684 89552221 - 89252198 89252735 - 8011175 28910 AC110080;AC244255;AP001219;AP001226;NG_000834 A16;A16a;IGKV331 APPROVED pseudo HGNC:5819 VALIDATED 1353867 IGKV3-7 immunoglobulin kappa variable 3-7 28915 X02725 HGNC:5821 1348489 IGKV3D-11 immunoglobulin kappa variable 3D-11 28876 X17264 HGNC:5823 1349711 IGKV3D-15 immunoglobulin kappa variable 3D-15 28875 X72815 2133800;2180216 RH66797;RH66821 HGNC:5824 1348791 IGKV3-34 immunoglobulin kappa variable 3-34 (pseudogene) 2 2 p12 89575013 89575545 - 89275255 89275787 - 8011175 28909 AC110080;AC244255;AP001217;NG_000834;X71891 IGKV334;O17 APPROVED pseudo HGNC:5820 VALIDATED 1343767 IGKV3D-20 immunoglobulin kappa variable 3D-20 INTERACTS WITH zinc atom; zinc(0) 6480464 28874 X12687 HGNC:5825 1346075 IGKV3D-25 immunoglobulin kappa variable 3D-25 (pseudogene) 6 2 2 p12 66160810 66162513 - 90027310 90029068 + 89988500 89990258 + 11298326;8011175 28873 AC009958;AC233264;AP001216;NG_000833;X71886 A6;IGKV3D25 APPROVED pseudo HGNC:5826 VALIDATED 1606563 IGKV3D-31 immunoglobulin kappa variable 3D-31 (pseudogene) 2 2 2 p12 298 835 - 89968512 89969049 + 89929702 89930239 + 11298326 28872 AC009958;AC233264;AP001220;AP001235;NG_000833 IGKV3D31;O10 APPROVED pseudo HGNC:5827 VALIDATED 1348180 IGKV3D-34 immunoglobulin kappa variable 3D-34 (pseudogene) 2 2 p12 89945569 89946101 + 89906759 89907291 + 11298326 28871 AC009958;AC233264;AP001220;NG_000833;X71895 IGKV3D34;O7 immunoglobulin kappa variable 1d-34;immunoglobulin kappa variable 3D-34 APPROVED pseudo HGNC:5828 VALIDATED 1351936 IGKV3D-7 immunoglobulin kappa variable 3D-7 28877 X72820 HGNC:5829 1351330 IGKV3OR2-268 immunoglobulin kappa variable 3/OR2-268 7959772 3523 X74459 HGNC:5830 1348328 IGKV3OR2-5 immunoglobulin kappa variable 3/OR2-5 (pseudogene) 2111145 28854 X51882 IGKV3/OR2-5;IGKV3OR25 APPROVED pseudo HGNC:5832 1346817 IGKV4-1 immunoglobulin kappa variable 4-1 INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); Fc-epsilon receptor signaling pathway (inferred); FOUND IN blood microparticle; INTERACTS WITH formaldehyde; methyl methanesulfonate; vincristine 1580863;6480464 28908 P06312 Z00023 1743659 GDB:364093 HGNC:5834 1354155 IGKV5-2 immunoglobulin kappa variable 5-2 28907 X02485 HGNC:5835 1344381 IGKV6-21 immunoglobulin kappa variable 6-21 28906 X63399 HGNC:5836 1348380 IGKV3OR22-2 immunoglobulin kappa variable 3/OR22-2 (pseudogene) 22 22 22 q11.1 1029214 1029608 - 17406940 17407334 - 16926050 16926444 - 3083265 3527 ABBA01001460;AC006548;AMYH02037984;NG_011767;Z00042 1677246 RH27886 IGKV3OR222;IGKVP3 APPROVED pseudo HGNC:5833 INFERRED 1353245 IGKV6D-21 immunoglobulin kappa variable 6D-21 28870 X12683 HGNC:5837 1343063 IGKV7-3 immunoglobulin kappa variable 7-3 (pseudogene) 2 2 2 p12 87574106 87574704 + 89214596 89215194 - 88915080 88915678 - 3137458 28905 AC096767;AC243970;AP001211;AP001240;NG_000834;X12682 CAA31193 B1;IGKV73 APPROVED pseudo HGNC:5839 VALIDATED 1348502 IGKV@ immunoglobulin kappa variable group 3519 HGNC:5728 146980 1343087 IGKV6D-41 immunoglobulin kappa variable 6D-41 28869 X12688 HGNC:5838 1347699 IGKVOR2@ Immunoglobulin kappa variable orphans on chromosome 2 2111145;2114012 3524 HGNC:5840 1349723 IGLC1 immunoglobulin lambda constant 1 (Mcg marker) INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); Fc-epsilon receptor signaling pathway (inferred); FOUND IN blood microparticle; extracellular space; extracellular vesicular exosome; INTERACTS WITH ibuprofen 1580863;6480464 3537 P01842;P0CG04 J00252 1712262;1744383;1774722;1776165;1847872;2162026;5021359;5021490;5024436;5111506 D22S1040;D22S1243;D22S1543;G54039;GDB:452623;RH71286;RH71287;RH71381;RH71387;STS-X51755 HGNC:5855 147220 1347208 IGL immunoglobulin lambda locus Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. There are two classes of light chains, kappa and lambda. This region represents the germline organization of the lambda light chain locus. The locus includes V (variable), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V segments and three C segments are known to be incapable of encoding a protein and are considered pseudogenes. The locus also includes several non-immunoglobulin genes, many of which are pseudogenes or are predicted by automated computational analysis or homology to other species. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 6197990 7079666 + 22380474 23265085 + 22026076 22922913 + 6480464;8554872 10591208;11872955;11955599;12477932;1249422;12749909;15174051;16508097;17675156;18005388;1904362;20637260;2115572;21483845;21504716;21646814;22503879;23303672;23376556;23608880;24024966;24107228;24250222;24598740;3122211;3133312;3923432;6273747;6783958;6795508;6802926;7655473;7673721;814163;8951372;9074928 3535 ABBA01055078;ABBA01055079;ABBA01055080;ABBA01055081;ABBA01055082;ABBA01055083;ABBA01055084;ABBA01055085;ABBA01055086;ABBA01055087;ABBA01055088;ABBA01055089;ABBA01055090;ABBA01055091;ABBA01055092;ABBA01055093;ABBA01055094;ABBA01055095;ABBA01055096;ABBA01055097;ABBA01055098;ABBA01055099;AC244157;AC244250;AC245028;AC245060;AC245291;AC245452;AC245517;AC246793;D86989;D86991;D86993;D86994;D86996;D86998;D86999;D87000;D87002;D87003;D87004;D87006;D87007;D87009;D87010;D87011;D87013;D87014;D87015;D87016;D87017;D87018;D87020;D87021;D87022;D87023;D87024;D88269;D88270;D88271;NG_000002 ABM83568;ABM86805;ABM87078 1334797;1337375;1648684;1650332;1655366;1678437;1678495;1679622;1686014;1698302;1698642;1703818;1709446;1712262;1718623;1722459;1729191;1730559;1733230;1733404;1734288;1734290;1741411;1742083;1744383;1756857;1774722;1776165;1777055;1778615;1778656;1847872;1851296;1854465;2106663;2109693;2120289;2122615;2129446;2135163;2136045;2142649;2148300;2162026;2163675;2168580;2171916;2176041;2181189;5093552;5109535;7185384 A009Q33;D22S1114;D22S1243;D22S306;D22S308;D22S425;D22S547;D22S556;D22S563;D22S585;D22S593;D22S626;D22S636;D22S647;D22S654;D22S655;D22S686;D22S938;D22S939;D22S940;FB3D9;G18165;G32786;G54039;G61970;GDB:181151;GDB:190925;GDB:452623;PRAME_9364;RH102691;RH102878;RH122997;RH38870;RH45724;RH48178;RH70693;RH71286;RH71381;RH93749;SHGC-144016;SHGC-57080;SHGC-78957;SHGC-81766;STS-AA017564;STS-M34515;STS-N26665;STS-X51755;SUHW2__5350;UniSTS:146579;WIAF-2521;WIAF-2544 IGL@;IGLC6;MGC88804 ig lambda-6 chain C region;immunoglobulin lambda gene cluster APPROVED protein-coding HGNC:5853 REVIEWED 1353213 IGLC3 immunoglobulin lambda constant 3 (Kern-Oz+ marker) ENCODES a protein that exhibits antigen binding (inferred); INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); Fc-epsilon receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space 1580863;8554872 3539 P01842;P0CG06 J00254 1709446;1712262;1733404;1742083;1744383;1774722;1776165;1847872;2120289;2162026 D22S1243;D22S655;G54039;GDB:190925;GDB:452623;RH71286;RH71381;SHGC-81766;STS-M34515;STS-X51755 HGNC:5857 1346758 IGLC4 immunoglobulin lambda constant 4 (pseudogene) 22 22 22 q11.2 7067580 7067832 + 23252998 23253250 + 22910828 22911080 + 3122211;6273747;9074928 3540 ABBA01055099;AC245028;D87023;J03009;NG_000002 1712262;1742083;1774722;2162026 D22S1243;G54039;GDB:190925;RH71286 IGLC APPROVED pseudo HGNC:5858 VALIDATED 1352037 IGLC2 immunoglobulin lambda constant 2 (Kern-Oz- marker) ENCODES a protein that exhibits antigen binding (inferred); INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); Fc-epsilon receptor signaling pathway (inferred); FOUND IN blood microparticle; extracellular space; extracellular vesicular exosome; INTERACTS WITH acetylsalicylic acid 1580863;6480464 3538 P01842;P0CG05 J00253 1712262;1733404;1742083;1774722;2162026 D22S1243;D22S655;G54039;GDB:190925;RH71286 HGNC:5856 1350362 IGLC6 immunoglobulin lambda constant 6 (Kern+Oz- marker, gene/pseudogene) ENCODES a protein that exhibits antigen binding (inferred); INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); Fc-epsilon receptor signaling pathway (inferred); FOUND IN extracellular space 22 22 22 q11.2 7076288 7076611 + 23261707 23262030 + 22919535 22919858 + 10591208;11955599;3122211;6273747;814163 3542 P0CF74 ABBA01055099;AC245028;D87017;J03011;NG_000002 AAA59111;P0CF74 1741411 GDB:181151 IGLC APPROVED pseudo HGNC:5860 VALIDATED 1351535 IGLC7 immunoglobulin lambda constant 7 ENCODES a protein that exhibits antigen binding (inferred); INVOLVED IN complement activation (inferred); complement activation, classical pathway (inferred); Fc-epsilon receptor signaling pathway (inferred); FOUND IN extracellular region (inferred); plasma membrane (inferred) 28834 A0M8Q6 X51755 HGNC:5861 1347985 IGLC5 immunoglobulin lambda constant 5 (pseudogene) 22 22 22 q11.2 7072377 7072685 + 23257794 23258102 + 22915624 22915932 + 3122211;6273747 3541 ABBA01055099;AC245028;D87017;J03010;NG_000002 IGLC APPROVED pseudo HGNC:5859 VALIDATED 1350177 IGLCOR22-1 immunoglobulin lambda constant/OR22-1 84096 AL008723 HGNC:15696 1353616 IGLCOR22-2 immunoglobulin lambda constant/OR22-2 (pseudogene) q12.2-q12.3 84086 AL021937 IGLC/OR22-2 APPROVED pseudo HGNC:15697 1352227 IGLC@ immunoglobulin lambda constant group 3536 HGNC:5854 1346085 IGLJ2 immunoglobulin lambda joining 2 28832 M15641 1733404 D22S655 HGNC:5864 1348665 IGLJ3 immunoglobulin lambda joining 3 INTERACTS WITH 17beta-estradiol; cadmium atom; ibuprofen 6480464 28831 M15642 1712262;1733404;1774722;5021359;5021490;5024436;5111506 D22S1040;D22S1543;D22S655;G54039;RH71286;RH71287;RH71387 HGNC:5865 1344872 IGLJ1 immunoglobulin lambda joining 1 28833 X04457 1744383;1847872 GDB:452623;STS-X51755 HGNC:5863 1352982 IGLJ4 immunoglobulin lambda joining 4 28830 X51755 HGNC:5866 1343526 IGLJ5 immunoglobulin lambda joining 5 28829 X51755 HGNC:5867 1350061 IGLJ6 immunoglobulin lambda joining 6 28828 M18338 1741411 GDB:181151 HGNC:5868 1348216 IGLJ@ immunoglobulin lambda joining group 8217 HGNC:5862 147230 1354222 IGLJ7 immunoglobulin lambda joining 7 28827 X51755 HGNC:5869 1344157 IGLL1 immunoglobulin lambda-like polypeptide 1 The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.23 7754682 7761865 - 23915312 23922619 - 23573125 23580308 - 1580863;6480464;6907045;7240710;8554872;8699517 10421777;10799888;10887125;11564802;11976493;12477932;15489334;16289162;16751776;1703205;1760403;18391951;1903358;2117639;2128466;21448238;23124203;2501791;2511029;3003227;3139558;7961773;8406611;9029104;9074928;9419212 3543 C9JEE0;P15814 ABBA01055116;AMYH02038130;AP000345;BC012293;BC030239;CH471095;M27749;M34513;NG_009791;NM_020070;NM_152855;X03528;X03530 AAA36096;AAA36100;AAH12293;AAH30239;ABM84504;ABM85566;CAA27229;CAA27231;EAW59583;EAW59584;NP_064455;NP_690594;P15814 Hs.348935 1743013;5020919;5024052 GDB:237864;RH71379;STS-M27749 14.1;AGM2;CD179b;IGL1;IGL5;IGLJ14.1;IGLL;IGO;IGVPB;VPREB2 CD179 antigen-like family member B;CD179b antigen;OTTHUMP00000198226;OTTHUMP00000198227;OTTHUMP00000198228;Pre-B lymphocyte-specific protein-2;ig lambda-5;immunoglobulin omega polypeptide chain;immunoglobulin-related 14.1 protein;immunoglobulin-related protein 14.1;lambda5 APPROVED protein-coding ENSG00000128322 HGNC:5870 00905 146770;613500 REVIEWED 1349654 IGLL2P immunoglobulin lambda-like polypeptide 2, pseudogene This locus represents a pseudogene of immunoglobulin lambda-like polypeptide 1. However, it appears to be co-transcribed with an adjacent glucuronidase, beta pseudogene. The transcript including sequence for both pseudogenes is represented by NR_024448, GeneID 91316. [provided by RefSeq, Jul 2011] 22 q11.23 7754759 7755143 - 3003227;8406611 3544 AP000346;L02326 AAA16174 1743013 GDB:237864 16.2;FLAMBDA1;IGLL1P;IGLL2 APPROVED pseudo HGNC:5871 1606196 IGLL3P immunoglobulin lambda-like polypeptide 3, pseudogene INTERACTS WITH 17beta-estradiol; cyclosporin A; zinc atom 22 22 22 q11.23 9518568 9520538 + 25714224 25716194 + 25318257 25320227 + 6480464 1703205;3003227;8406611 91353 ABBA01055171;AL022324;AMYH02038156;CH471095;EG327472;M34514;M34516;NR_029395;X03529 AAA36097;CAA27230;EAW59689 Hs.651077;Hs.742554 1743013;1747365;5020919 G65409;GDB:237864;RH71379 16.1;IGLL3 APPROVED pseudo HGNC:5872 18481 VALIDATED 3129514 IGLL4P immunoglobulin lambda-like polypeptide 4, pseudogene 22 22 22 q11.21 4477802 4478038 + 20986877 20987113 + 20632590 20632826 + 3003227 100287528 ABBA01015450;AC007050;AMYH02038078;NG_021207;X04458 IGLL4 APPROVED pseudo HGNC:38475 INFERRED 1348633 IGLJCOR18 immunoglobulin lambda joining-constant/OR18 (pseudogene) 18 18 18 p11.31 3274454 3274885 + 3394884 3395315 + 3394886 3395317 + 6801526 204777 ABBA01049851;AMYH02034224;AP001025;J00255;NG_004787 IGLJ-C/OR18;IGLJ-COR18 APPROVED pseudo HGNC:28614 INFERRED 3362168 IGLL5 immunoglobulin lambda-like polypeptide 5 This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 22 22 22 q11.22 7044543 7052595 + 23229960 23238014 + 22887780 22895834 + 6480464 1703205;1760403;1900243;21906983;23750785;24457600 100423062 B9A064 AA847784;AB064212;ABBA01055098;AC245028;AJ318021;AJ318022;AJ319669;AJ319670;AJ319671;BG756003;D87023;M34515;M34518;NG_000002;NM_001178126;NM_001256296 AAA36098;AAA99887;B9A064;BAC01840;CAC50882;CAC51026;NP_001171597;NP_001243225 Hs.449585;Hs.625768 1712262;1744383;1774722;1776165;1847872;2120289;2162026;5021359;5021490;5024436;5111506 D22S1040;D22S1243;D22S1543;G54039;GDB:452623;RH71286;RH71287;RH71381;RH71387;STS-M34515;STS-X51755 G lambda-1;OTTHUMP00000230681;OTTHUMP00000230682;germline immunoglobulin lambda 1;immunoglobulin lambda-3 surrogate light chain;omega light chain protein 14.1 APPROVED protein-coding ENSG00000254709 HGNC:38476 REVIEWED 1346144 IGLP1 immune response to synthetic polypeptides 1 7925 HGNC:5873 147080 1349431 IGLP2 immune response to synthetic polypeptides 2 7926 HGNC:5874 147090 2302828 IGLON5 IgLON family member 5 FOUND IN extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.41 48866710 48885705 + 51815102 51834102 + 51311848 51330848 + 6480464 15057824;24703753 402665 A6NGN9 ABBA01068276;ABBA01068277;AC063977;AMYH02036379;CH471135;NM_001101372;XM_006723221 A6NGN9;EAW72000;NP_001094842;XP_006723284 Hs.546636 1783822 SHGC-154050 Ig-like domain-containing protein ENSP00000270642;OTTHUMP00000205644;hCG1651476 protein-coding ENSG00000142549 HGNC:34550 PROVISIONAL 1344721 IGLV1-36 immunoglobulin lambda variable 1-36 28826 Z73653 HGNC:5876 1348756 IGLV1-40 immunoglobulin lambda variable 1-40 28825 M94116 HGNC:5877 1350159 IGLV1-44 immunoglobulin lambda variable 1-44 INTERACTS WITH arsane; arsenic atom 6480464 28823 Z73654 1712262;1774722;2162026;5021359;5021490;5024436;5111506 D22S1040;D22S1243;D22S1543;G54039;RH71286;RH71287;RH71387 HGNC:5879 1351121 IGLV1-47 immunoglobulin lambda variable 1-47 28822 Z73663 HGNC:5880 1343227 IGLV1-50 immunoglobulin lambda variable 1-50 28821 M94112 HGNC:5881 1351842 IGLV1-51 immunoglobulin lambda variable 1-51 28820 Z73661 1678437;1698642;1756857;2176041;5093552 A009Q33;G32786;RH102878;RH38870;SHGC-144016 HGNC:5882 1346087 IGLV1-41 immunoglobulin lambda variable 1-41 (pseudogene) 22 22 22 q11.2 6565974 6566974 + 22758592 22759053 + 22404260 22404721 + 1495496;9074928 28824 ABBA01055084;AC245291;D87010;M94118;NG_000002 1698642;1756857;2176041;5093552 A009Q33;G32786;RH102878;SHGC-144016 IGLV141;V1-14P APPROVED pseudo HGNC:5878 VALIDATED 1344651 IGLV10-54 immunoglobulin lambda variable 10-54 28772 Z73676 2136045 D22S306 HGNC:5884 1353309 IGLV10-67 immunoglobulin lambda variable 10-67 (pseudogene) 22 22 22 q11.2 6215367 6215829 + 22397850 22398312 + 22043452 22043914 + 8951372;9074928 28771 ABBA01055078;AC245452;D86993;NG_000002;Z73651 1729191 UniSTS:146579 IGLV1067;V1-25P APPROVED pseudo HGNC:5885 VALIDATED 1349090 IGLV1-62 immunoglobulin lambda variable 1-62 (pseudogene) 22 22 22 q11.2 6258630 6258938 + 22441127 22441435 + 22086716 22087024 + 9074928 28819 ABBA01055078;AC245517;D87022;NG_000002 IGLV162;V1-23P APPROVED pseudo HGNC:5883 VALIDATED 1348002 IGLV11-55 immunoglobulin lambda variable 11-55 28770 D86996 HGNC:5886 1345280 IGLV2-11 immunoglobulin lambda variable 2-11 28816 Z73657 HGNC:5887 1351160 IGLV2-18 immunoglobulin lambda variable 2-18 28814 Z73642 HGNC:5889 1345620 IGLV2-23 immunoglobulin lambda variable 2-23 28813 X14616 1686014 WIAF-2521 HGNC:5890 1352679 IGLV2-14 immunoglobulin lambda variable 2-14 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 6480464 28815 Z73664 HGNC:5888 1345246 IGLV2-33 immunoglobulin lambda variable 2-33 28811 Z73643 HGNC:5892 1348337 IGLV2-28 immunoglobulin lambda variable 2-28 (pseudogene) 22 22 22 q11.2 6821688 6822146 + 23006943 23007401 + 22664473 22664931 + 8951372;9074928 28812 ABBA01055094;AC244250;D86994;NG_000002;X97466 IGLV228;V1-8P APPROVED pseudo HGNC:5891 VALIDATED 1343548 IGLV2-34 immunoglobulin lambda variable 2-34 (pseudogene) 22 22 22 q11.2 6742399 6742869 + 22922306 22922776 + 22579842 22580312 + 9074928 28810 ABBA01055087;AC246793;D87013;NG_000002 IGLV234;V1-10P APPROVED pseudo HGNC:5893 VALIDATED 1342960 IGLV2-5 immunoglobulin lambda variable 2-5 (pseudogene) 22 22 22 q11.2 7013389 7013859 + 23198765 23199235 + 22856590 22857060 + 8951372;9074928 28818 ABBA01055098;AC245028;D87024;NG_000002;Z73641 IGLV25;V1-1P APPROVED pseudo HGNC:5894 VALIDATED 1350535 IGLV2-8 immunoglobulin lambda variable 2-8 28817 X97462 HGNC:5895 1354157 IGLV3-1 immunoglobulin lambda variable 3-1 28809 X57826 1709446 SHGC-81766 HGNC:5896 1347728 IGLV3-10 immunoglobulin lambda variable 3-10 28803 X97464 HGNC:5897 1343146 IGLV3-13 immunoglobulin lambda variable 3-13 (pseudogene) 22 22 22 q11.2 6919218 6919713 + 23104572 23105067 + 22762079 22762574 + 8951372;9074928 28801 ABBA01055095;AC244157;D86998;D87015;NG_000002;X97463 IGLV313;V2-9P APPROVED pseudo HGNC:5899 VALIDATED 1353164 IGLV3-12 immunoglobulin lambda variable 3-12 28802 Z73658 HGNC:5898 1351814 IGLV3-16 immunoglobulin lambda variable 3-16 28799 X97471 2148300 D22S556 HGNC:5901 1348035 IGLV3-15 immunoglobulin lambda variable 3-15 (pseudogene) 22 22 22 q11.2 6912788 6913072 + 23098042 23098326 + 22755553 22755837 + 9074928 28800 ABBA01055094;AC244250;D87015;NG_000002 IGLV315;V2-10P APPROVED pseudo HGNC:5900 VALIDATED 1348212 IGLV3-19 immunoglobulin lambda variable 3-19 28797 X56178 1337375 D22S686 HGNC:5903 1350085 IGLV3-2 immunoglobulin lambda variable 3-2 (pseudogene) 22 22 22 q11.2 7029813 7030298 + 23215187 23215672 + 22873008 22873493 + 8951372;9074928 28808 ABBA01055098;AC245028;D87024;NG_000002;X97468 IGLV32;V2-2P APPROVED pseudo HGNC:5904 VALIDATED 1353004 IGLV3-21 immunoglobulin lambda variable 3-21 28796 X71966 1776165;5021359;5021490;5111506 D22S1040;RH71287;RH71381;RH71387 HGNC:5905 1344674 IGLV3-22 immunoglobulin lambda variable 3-22 28795 Z73666 HGNC:5906 1343091 IGLV3-17 immunoglobulin lambda variable 3-17 (pseudogene) 22 22 22 q11.2 6896149 6896429 + 23081399 23081679 + 22738911 22739191 + 8951372;9074928 28798 ABBA01055094;AC244250;D87015;NG_000002;X97472 IGLV317;V2-12P APPROVED pseudo HGNC:5902 VALIDATED 1349653 IGLV3-24 immunoglobulin lambda variable 3-24 (pseudogene) 22 22 22 q11.2 6852014 6852308 + 23037261 23037555 + 22694776 22695070 + 8028600;9074928 28794 ABBA01055094;AC244250;D86994;NG_000002;X71968 IGLV324;V2-16P APPROVED pseudo HGNC:5907 VALIDATED 1351612 IGLV3-25 immunoglobulin lambda variable 3-25 28793 X97474 1334797;1337375;1650332;1679622;1686014;1698302;1709446;1712262;1718623;1733404;1734290;1742083;1744383;1774722;1776165;1777591;1778615;1847872;1854465;2106663;2109693;2111966;2120289;2122615;2129446;2135163;2142649;2148300;2162026;2163675;2168580;2181189;5021359;5021490;5024436;5111506;7185384 D22S1040;D22S1114;D22S1243;D22S1543;D22S1587;D22S425;D22S556;D22S563;D22S593;D22S655;D22S686;D22S940;D8S463;G18165;G54039;GDB:190925;GDB:452623;PRAME_9364;RH102691;RH122997;RH45724;RH48178;RH70693;RH71286;RH71287;RH71381;RH71387;RH93749;SHGC-57080;SHGC-81766;STS-AA017564;STS-M34515;STS-N26665;STS-X51755;SUHW2__5350;WIAF-2521 HGNC:5908 1352617 IGLV3-27 immunoglobulin lambda variable 3-27 28791 D86994 HGNC:5910 1346104 IGLV3-29 immunoglobulin lambda variable 3-29 (pseudogene) 22 22 22 q11.2 6818163 6818791 + 23003419 23004047 + 22660949 22661577 + 8951372;9074928 28790 ABBA01055094;AC244250;D87002;NG_000002;Z73644 2122615 D22S1114 IGLV329 pseudo HGNC:5911 VALIDATED 1351461 IGLV3-30 immunoglobulin lambda variable 3-30 (pseudogene) 22 22 22 q11.2 6781105 6781598 + 22961188 22961681 + 22618718 22619211 + 8951372;9074928 28789 ABBA01055087;AC246793;D87014;NG_000002;Z73646 IGLV330;V2-21P APPROVED pseudo HGNC:5912 VALIDATED 1346403 IGLV3-31 immunoglobulin lambda variable 3-31 (pseudogene) 22 22 22 q11.2 6767088 6767580 + 22947163 22947655 + 22604693 22605185 + 8951372;9074928 28788 ABBA01055087;AC246793;D87014;NG_000002;X97469 IGLV331;V2-22P APPROVED pseudo HGNC:5913 VALIDATED 1342666 IGLV3-26 immunoglobulin lambda variable 3-26 (pseudogene) 22 22 22 q11.2 6830552 6830851 + 23015808 23016107 + 22673338 22673637 + 8951372;9074928 28792 ABBA01055094;AC244250;D86994;NG_000002;X97467 IGLV326;V2-18P APPROVED pseudo HGNC:5909 VALIDATED 1344557 IGLV3-32 immunoglobulin lambda variable 3-32 28787 Z73645 HGNC:5914 1343976 IGLV3-4 immunoglobulin lambda variable 3-4 (pseudogene) 22 22 22 q11.2 7014620 7015101 + 23199996 23200477 + 22857821 22858302 + 9074928 28807 ABBA01055098;AC245028;D87024;NG_000002 IGLV34;V2-3P APPROVED pseudo HGNC:5915 VALIDATED 1345637 IGLV3-7 immunoglobulin lambda variable 3-7 (pseudogene) 22 22 22 q11.2 6995392 6995690 + 23180767 23181065 + 22838590 22838888 + 8951372;9074928 28805 ABBA01055098;AC245028;D87024;NG_000002;X97470 IGLV37;V2-5P APPROVED pseudo HGNC:5917 VALIDATED 1344709 IGLV3-9 immunoglobulin lambda variable 3-9 28804 X97473 HGNC:5918 1351470 IGLV4-3 immunoglobulin lambda variable 4-3 28786 X57828 1712262;1774722;2162026;5021359;5021490;5024436;5111506 D22S1040;D22S1243;D22S1543;G54039;RH71286;RH71287;RH71387 HGNC:5919 1349096 IGLV4-60 immunoglobulin lambda variable 4-60 28785 Z73667 HGNC:5920 1349935 IGLV4-69 immunoglobulin lambda variable 4-69 28784 Z73648 HGNC:5921 1345795 IGLV5-37 immunoglobulin lambda variable 5-37 28783 Z73672 HGNC:5922 1348922 IGLV3-6 immunoglobulin lambda variable 3-6 (pseudogene) 22 22 22 q11.2 7007171 7007454 + 23192548 23192831 + 22850373 22850656 + 8951372;9074928 28806 ABBA01055098;AC245028;D87024;NG_000002;X97465 IGLV36;V2-4P APPROVED pseudo HGNC:5916 VALIDATED 1344666 IGLV5-39 immunoglobulin lambda variable 5-39 28782 Z73668 HGNC:5923 1345111 IGLV5-45 immunoglobulin lambda variable 5-45 28781 Z73670 HGNC:5924 1343851 IGLV5-48 immunoglobulin lambda variable 5-48 28780 Z73649 HGNC:5925 1351515 IGLV5-52 immunoglobulin lambda variable 5-52 28779 Z73669 HGNC:5926 1345923 IGLV6-57 immunoglobulin lambda variable 6-57 28778 Z73673 1777055;1778656 D22S585;FB3D9 HGNC:5927 1350740 IGLV7-35 immunoglobulin lambda variable 7-35 (pseudogene) 22 22 22 q11.2 6612607 6612901 + 22804696 22804990 + 22450358 22450652 + 8951372;9074928 28777 ABBA01055084;AC245291;D87009;NG_000002;Z73660 2142649 D22S593 IGLV735;V3-1P APPROVED pseudo HGNC:5928 VALIDATED 1346910 IGLV7-43 immunoglobulin lambda variable 7-43 28776 X14614 1851296 D22S626 HGNC:5929 1344347 IGLV8-61 immunoglobulin lambda variable 8-61 28774 Z73650 1655366 D22S647 HGNC:5931 1344991 IGLV7-46 immunoglobulin lambda variable 7-46 28775 Z73674 HGNC:5930 1350125 IGLV8OR8-1 immunoglobulin lambda variable 8/OR8-1 (pseudogene) q11.2 9174619 28756 Y08831 IGLV8/OR8-1;IGLV8OR81 APPROVED pseudo HGNC:5932 1352179 IGLV9-49 immunoglobulin lambda variable 9-49 28773 Z73675 HGNC:5933 1347357 IGLVI-20 immunoglobulin lambda variable (I)-20 (pseudogene) 22 22 22 q11.2 6872396 6872681 + 23057643 23057928 + 22715158 22715443 + 9074928 28769 ABBA01055094;AC244250;D87007;NG_000002 1698302 RH102691 IGLV(I)-20;IGLVI20;V1-6P APPROVED pseudo HGNC:5934 VALIDATED 1351415 IGLV@ immunoglobulin lambda variable group 3923432 3546 HGNC:5875 147240 1350879 IGLVI-42 immunoglobulin lambda variable (I)-42 (pseudogene) 22 22 22 q11.2 6559290 6559748 + 22751369 22751827 + 22397032 22397490 + 1909789;2499871;9074928 28767 ABBA01055083;AC245291;D86999;NG_000002;X14613 IGLV(I)-42;IGLVI42;V1-15P APPROVED pseudo HGNC:5936 VALIDATED 1350053 IGLVI-56 immunoglobulin lambda variable (I)-56 (pseudogene) 22 22 22 q11.2 6370568 6370863 + 22553124 22553419 + 22198724 22199019 + 9074928 28766 ABBA01055082;AC245060;D86996;NG_000002 IGLV(I)-56;IGLVI56;V1-21P APPROVED pseudo HGNC:5937 VALIDATED 1348293 IGLVI-63 immunoglobulin lambda variable (I)-63 (pseudogene) 22 22 22 q11.2 6251684 6252147 + 22434180 22434643 + 22079770 22080233 + 9074928 28765 ABBA01055078;AC245517;D87022;NG_000002 IGLV(I)-63;IGLVI63;V1-24P APPROVED pseudo HGNC:5938 VALIDATED 1343173 IGLVI-68 immunoglobulin lambda variable (I)-68 (pseudogene) 22 22 22 q11.2 6204818 6205121 + 22387300 22387603 + 22032902 22033205 + 9074928 28764 ABBA01055078;AC245452;D86993;NG_000002 IGLV(I)-68;IGLVI68;V1-26P APPROVED pseudo HGNC:5939 VALIDATED 1606798 IGLVI-38 immunoglobulin lambda variable (I)-38 (pseudogene) 22 22 22 q11.2 6588245 6588535 + 22780325 22780615 + 22425988 22426278 + 9074928 28768 ABBA01055084;AC245291;D87010;NG_000002 IGLV(I)-38;IGLVI38;V1-12P APPROVED pseudo HGNC:5935 VALIDATED 1345137 IGLVI-70 immunoglobulin lambda variable (I)-70 (pseudogene) 22 22 22 q11.2 6197990 6198467 + 22380474 22380951 + 22026076 22026553 + 9074928 28763 ABBA01055078;AC245452;D86993;NG_000002 IGLV(I)-70;IGLVI70;V1-27P APPROVED pseudo HGNC:5940 VALIDATED 1345396 IGLVIV-59 immunoglobulin lambda variable (IV)-59 (pseudogene) 22 22 22 q11.2 6351035 6351358 + 22533555 22533878 + 22179165 22179488 + 9074928 28761 ABBA01055082;AC245517;D87000;NG_000002 1778656 FB3D9 IGLV(IV)-59;IGLVIV59;V4-7P APPROVED pseudo HGNC:5942 VALIDATED 1343273 IGLVIV-64 immunoglobulin lambda variable (IV)-64 (pseudogene) 22 22 22 q11.2 6247099 6247595 + 22429597 22430093 + 22075186 22075682 + 9074928 28760 ABBA01055078;AC245517;D87022;NG_000002 IGLV(IV)-64;IGLVIV64;V4-8P APPROVED pseudo HGNC:5943 VALIDATED 1346812 IGLVIV-53 immunoglobulin lambda variable (IV)-53 (pseudogene) 22 22 22 q11.2 6391486 6391972 + 22574039 22574525 + 22219647 22220133 + 9074928 28762 ABBA01055082;AC245060;D86996;NG_000002 IGLV(IV)-53;IGLVIV53;V4-5P APPROVED pseudo HGNC:5941 VALIDATED 1350516 IGLVIV-65 immunoglobulin lambda variable (IV)-65 (pseudogene) 22 22 22 q11.2 6242138 6242624 + 22424636 22425122 + 22070225 22070711 + 9074928 28759 ABBA01055078;AC245517;D87022;NG_000002 IGLV(IV)-65;IGLVIV65;V4-9P APPROVED pseudo HGNC:5944 VALIDATED 1349537 IGLVIVOR22-1 immunoglobulin lambda variable (IV)/OR22-1 84088 AL008721 HGNC:15694 1353385 IGLVIVOR22-2 immunoglobulin lambda variable (IV)/OR22-2 84087 AL021937 HGNC:15695 1350373 IGLVV-58 immunoglobulin lambda variable (V)-58 (pseudogene) 22 22 22 q11.2 6354414 6354721 + 22536973 22537280 + 22182583 22182890 + 9074928 28758 ABBA01055082;AC245517;D87000;NG_000002 IGLV(V)-58;IGLVV58;V5-3P APPROVED pseudo HGNC:5945 VALIDATED 1606799 IGLVV-66 immunoglobulin lambda variable (V)-66 (pseudogene) 22 22 22 q11.2 6233163 6233474 + 22415658 22415969 + 22061246 22061557 + 9074928 28757 ABBA01055078;AC245452;D87004;NG_000002 IGLV(V)-66;IGLVV66;V5-5P APPROVED pseudo HGNC:5946 VALIDATED 1604768 IGLVIV-66-1 immunoglobulin lambda variable (IV)-66-1 (pseudogene) 22 22 22 q11.2 6230396 6230722 + 22412891 22413217 + 22058479 22058805 + 9074928 84097 ABBA01055078;AC245452;D87004;NG_000002 APPROVED pseudo HGNC:15692 VALIDATED 1343450 IGLVVI-22-1 immunoglobulin lambda variable (VI)-22-1 84091 X71351 HGNC:15689 1604769 IGLVVI-25-1 immunoglobulin lambda variable (VI)-25-1 (pseudogene) 22 22 22 q11.2 6836153 6836616 + 23021407 23021870 + 22678934 22679397 + 9074928 84090 ABBA01055094;AC244250;D86994;NG_000002 lambdavg3 APPROVED pseudo HGNC:15690 VALIDATED 1345116 IGLVVII-41-1 immunoglobulin lambda variable (VII)-41-1 (pseudogene) 22 22 22 q11.2 6560540 6560838 + 22752619 22752917 + 22398284 22398582 + 2499871 84089 AC245291;D86999;NG_000002;X99568 lambdavg1 APPROVED pseudo HGNC:15691 VALIDATED 1353839 IGSF1 immunoglobulin superfamily, member 1 This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] X X X q25 130793906 130809827 - 130407480 130423403 - 131273506 131289429 - 1580863;6480464;8699517;7240710;8554872 11076863;11266516;11344214;11854097;12421765;12477932;15489336;16344560;16381901;18981173;23143598;23966245;24108313;8125298;9205841;9521868;9729118 3547 Q8N6C5 AB058894;ABBA01042119;AF034198;AK057916;AK226008;AK295438;AK307871;AL137369;AL590806;AMYH02040494;BC028312;BC063884;CH471107;DA195297;HC250963;HC311152;NG_021190;NM_001170961;NM_001170962;NM_001170963;NM_001555;NM_205833;XM_006724755;XM_006724756;Y10523 AAC52057;AAH63884;BAB40235;BAG58378;CAA71535;CAB70713;CAL37686;CAL37995;CAL38206;CAL38268;CBJ05779;CBJ21231;EAX11791;EAX11792;NP_001164432;NP_001164433;NP_001164434;NP_001546;NP_991402;Q8N6C5;XP_006724818;XP_006724819 Hs.22111 1646873;1658776;1662876;1703014;2123051;2127537 AL022498;RH16410;SHGC-33938;STS-H78267;WI-13557;sWXD1080 CHTE;IGCD1;IGDC1;INHBP;KIAA0364;MGC75490;PGSF2;p120 OTTHUMP00000024027;OTTHUMP00000024028;OTTHUMP00000024029;OTTHUMP00000024030;OTTHUMP00000024031;immunoglobulin superfamily member 1;immunoglobulin-like domain-containing protein 1;inhibin-binding protein;pituitary gland-specific factor 2 APPROVED protein-coding ENSG00000147255 HGNC:5948 02138 300137;300888 REVIEWED 1352652 IGSF10 immunoglobulin superfamily, member 10 INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); ossification (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; cyclosporin A; trichostatin A 3 3 3 q25.1 149572109 149594842 - 151153778 151179272 - 151432793 151539405 - 737633;1580863;6480464;8554872 12477932 14702039;16344560;21832049 285313 H7C4M2;Q6WRI0 ABBA01058908;AC024886;AC117454;AK093069;AK098838;AK128160;AMYH02007901;AY273815;BC031063;BC045734;CH471052;DB051634;DB054913;NM_001178145;NM_001178146;NM_178822;XM_005247377;XM_006713596;XM_006713597;XM_006713598;XM_006713599;XM_006713600 AAH31063;AAH45734;AAI56532;AAQ16156;BAC04042;BAC05429;BAC87305;EAW78798;EAW78799;NP_001171616;NP_001171617;NP_849144;Q6WRI0;XP_005247434;XP_006713659;XP_006713660;XP_006713661;XP_006713662;XP_006713663 Hs.58561 1687534;1699070;1729401;1761607;2106507 G54366;IGSF10__6450;RH103111;RH98359;SHGC-145600 CMF608;FLJ25972 OTTHUMP00000216775;calvaria mechanical force protein 608;immunoglobulin superfamily member 10 protein-coding HGNC:26384 13732 VALIDATED 5144523 IGSF11-AS1 IGSF11 antisense RNA 1 3 3 3 q13.32 117070430 117074852 + 118661923 118667088 + 118943076 118948241 + 12477932 100506765 ABBA01061589;AC007023;AMYH02007493;BC042737;BI829854;HG495978;NR_046230 Hs.660823 1682091 RH94162 RP4-635B5.1 APPROVED ncrna ENSG00000239877 HGNC:40777 VALIDATED 1602849 IGSF21 immunoglobin superfamily, member 21 This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011] 1 1 1 p36.13 16764091 17034739 + 18434240 18704977 + 18107746 18378483 + 6480464;8554872 12477932;14702039;15489334;16169070;16303743;16710414;19240061;20379614;20932654;21441570;21900206 84966 H0Y415;Q96ID5 ABBA01059730;ABBA01059731;ABBA01059732;ABBA01059733;ABBA01059734;AK075316;AK092618;AK123172;AK294121;AL050342;AL356101;AL359738;AL365209;AMYH02000408;AMYH02000409;BC007618;BF939845;CH471134;CQ783449;KF495876;KF495884;NG_027535;NM_032880 AAH07618;ACE86912;ACE87599;BAC11542;BAG53875;BAG57454;CAF86651;EAW94848;NP_116269;Q96ID5 Hs.212511 1339307;1657388;1691852;1732868;1732896;1732956;1754279;1758165;1781590;2160126;2180275 AL033982;D1S1295;D1S1312;D1S1345;D1S2826;G35004;G35006;HSCZSE052;SHGC-132294;SHGC-147560;SHGC-149400 FLJ41177;MGC15730;RP11-121A23.1 OTTHUMP00000002532;immunoglobulin superfamily member 21 APPROVED protein-coding ENSG00000117154 HGNC:28246 11309 REVIEWED 1318715 IGSF11 immunoglobulin superfamily, member 11 IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005] 3 3 3 q13.32 117027981 117273390 - 118619477 118864915 - 118900630 119146051 - 1580863;6480464;8554872 12207903;12477932;12851705;12975309;14702039;15795899;16108831;21982860;22952603;23251661;24023788 152404 C9IZX3;C9JAD3;C9JBA5;C9JMW0;Q5DX21 AA292896;AB071618;AB079879;ABBA01061587;ABBA01061588;ABBA01061589;ABBA01061590;AC007023;AC012032;AC068984;AC083800;AK097667;AK122611;AK292387;AK296503;AL834256;AMYH02007493;AMYH02007494;AMYH02007495;AY358141;BC034411;BI828564;CH471052;CQ789642;NM_001015887;NM_152538;XM_006713516;XM_006713517 AAH34411;AAQ88508;ACE86885;ACE87572;BAC05139;BAC07546;BAD90695;BAF85076;BAG53622;BAG59136;CAD38931;CAG24381;EAW79579;EAW79580;NP_001015887;NP_689751;Q5DX21;XP_006713579;XP_006713580 Hs.112873 1339878;1672779;1672781;1682091;1767131;1938826;2038350 A005Y20;D3S3664;G20594;NIB1484;REN40251;REN90194;RH94162 BT-IgSF;CT119;CXADRL1;Igsf13;MGC35227;VSIG3 CXADR like 1;OTTHUMP00000215138;OTTHUMP00000215139;OTTHUMP00000215140;OTTHUMP00000215225;OTTHUMP00000215226;V-set and immunoglobulin domain containing 3;V-set and immunoglobulin domain-containing protein 3;brain and testis-specific immunoglobin superfamily protein;brain and testis-specific immunoglobulin superfamily protein;cancer/testis antigen 119;immunoglobulin superfamily member 11 APPROVED protein-coding ENSG00000144847 HGNC:16669 16321 608351 VALIDATED 5132191 IGSF23 immunoglobulin superfamily, member 23 This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 2011] 19 19 19 q13.31 41920994 41944130 + 45116911 45140081 + 44613590 44636781 + 6480464 11329013;12477932 147710 A1L1A6;H0Y6S3;H0Y773;K7EL25 ABBA01040880;AC138472;AC243964;BC127928;BC127929;BG197674;BX112065;CH471126;NG_030649;NM_001205280;XM_005258540;XM_006723030;XM_006723031;XM_006723032;XM_006723033;XM_006723034 A1L1A6;AAI27929;AAI27930;EAW57282;NP_001192209;XP_005258597;XP_006723093;XP_006723094;XP_006723095;XP_006723096;XP_006723097 Hs.512509 1340318;1645669;2159140;2163692;5093468 A009P21;D19S574;G32736;STS-R85380;WI-18539 OTTHUMP00000200173;hypothetical protein LOC147710;immunoglobulin superfamily member 23;uncharacterized protein LOC147710 APPROVED protein-coding ENSG00000216588 HGNC:40040 REVIEWED 1601807 IGSF22 immunoglobulin superfamily, member 22 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol 11 11 11 p15.1 18861714 18883614 - 18725852 18747777 - 18704305 18726230 - 6480464;8554872 12477932;14702039;16344560;20467438 283284 Q8N9C0 AA255875;ABBA01061047;ABBA01061048;AC103974;AI952274;AK095113;AMYH02024402;BC115396;BC115397;DA338373;NM_173588;XR_242793 AAI15398;BAC04488;NP_775859;Q8N9C0 Hs.434152 1655723;1762893;2138482;2175689 A004A23;RH11974;SHGC-146649;SHGC-32421 FLJ37794 OTTHUMP00000218334;OTTHUMP00000218335;immunoglobulin superfamily member 22 protein-coding ENSG00000179057 HGNC:26750 08229 VALIDATED 1352549 IGSF5 immunoglobulin superfamily, member 5 ENCODES a protein that exhibits PDZ domain binding (inferred); INVOLVED IN single organismal cell-cell adhesion (inferred); FOUND IN cell surface (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); flutamide (ortholog) 21 21 21 q22.2 26314757 26371484 + 41117334 41174023 + 39727701 39802096 + 6480464 10830953;12477932;12773569;14702039;16832352;20379614;21041247;21347282;24376456 150084 Q9NSI5 ABBA01009331;AF064860;AF121782;AK092516;AL163280;AMYH02037834;AMYH02037835;BC114922;NM_001080444;XM_006723974 AAI56233;AAI57007;BAG52565;CAB90447;NP_001073913;Q9NSI5;XP_006724037 Hs.422120 1793996;1855681 PMC310729P3;STS-N32631 GSF5;JAM-4;JAM4 OTTHUMP00000109184;immunoglobulin superfamily 5 like;immunoglobulin superfamily member 5;junctional adhesion molecule 4 protein-coding ENSG00000183067 HGNC:5952 610638 PROVISIONAL 1343123 IGSF6 immunoglobulin superfamily, member 6 ENCODES a protein that exhibits transmembrane signaling receptor activity (inferred); INVOLVED IN cell surface receptor signaling pathway (inferred); immune response (inferred); FOUND IN integral component of plasma membrane (inferred); INTERACTS WITH arsane; arsenic atom; arsenous acid 16 16 16 p12.2 21334354 21345720 - 21652605 21663987 - 21641284 21652666 - 633060;1580863;6480464 9809579 11132146;12477932;12786995;21832049;23898208;8125298 10261 H3BNM0;O95976 ABBA01008651;AC092719;AC241409;AJ223183;AJ278581;AK223286;AK290910;AK293703;AK313860;AV717532;BC017844;CD369238;CH878403;NM_005849 AAH17844;ABM82939;ABM86128;ABW03678;ABW03775;BAD97006;BAF83599;BAG36588;BAH11575;CAA11155;CAC20440;EAW50523;NP_005840;O95976 Hs.530902 1685986;5118444 D11S3316;RH65112 DORA OTTHUMP00000115880;down-regulated by activation (immunoglobulin superfamily);immunoglobulin superfamily member 6 protein-coding HGNC:5953 06938 606222 VALIDATED 1317196 IGSF3 immunoglobulin superfamily, member 3 INVOLVED IN lacrimal gland development; FOUND IN cell surface; INTERACTS WITH (S)-nicotine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 p13 115345546 115438824 - 117117020 117210377 - 116574398 116667755 - 6480464 12477932;14702039;19581412;21139048;22268729;23829686;9455484;9790749 3321 O75054 AB007935;ABBA01068489;ABBA01068490;ABBA01068491;ABBA01068492;ABBA01068493;AF031174;AI968231;AK097809;AL355794;AL356748;AMYH02001793;BC110651;BC130279;BC144132;BU189125;CH471122;NM_001007237;NM_001542;XM_005270793;XM_005270794;XM_006710593 AAC72013;AAI10652;AAI30280;AAI44133;ACE86759;ACE87446;BAA32311;BAC05175;EAW56657;EAW56658;EAW56659;NP_001007238;NP_001533;O75054;XP_005270850;XP_005270851;XP_006710656 Hs.171057 1656725;2174414;2174416 A001Y14;G19973;RH44261 EWI-3;MGC117164;V8 OTTHUMP00000024367;OTTHUMP00000024368;glu-Trp-Ile EWI motif-containing protein 3;immunoglobin superfamily, member 3;immunoglobulin superfamily member 3 protein-coding ENSG00000143061 HGNC:5950 04602 603491 VALIDATED 1322991 IGSF8 immunoglobulin superfamily, member 8 This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011] 1 1 1 q23.1 133129914 133137192 - 160061129 160068650 - 160091339 160098850 - 6480464 11504738;11673522;12477932;12708969;12750295;12752121;14662754;14702039;15070678;15489334;16537545;16690612;17785435;18382656;19107234;19199708;19946888;21139048;21163940;21343309;21987572;22268729;22360420;22689882;23351194;23463506;24816145 93185 C9J8Z4;Q969P0 ABBA01016617;AF311906;AF407274;AK055843;AK090396;AK308115;AL121987;AMYH02002020;AY044845;AY157579;BC004108;BC011896;BC023649;BC053881;BU172537;CH471121;DB501388;NG_030031;NM_001206665;NM_052868;XM_005245614;XM_006711631 AAH04108;AAH11896;AAH23649;AAH53881;AAK92220;AAL01052;AAM94901;AAO13163;BAB71027;BAC03377;EAW52743;EAW52744;EAW52745;EAW52746;NP_001193594;NP_443100;Q969P0;XP_005245671;XP_006711694 Hs.332012 1855971;2132799 RH41942;SGC31907 CD316;CD81P3;EWI-2;EWI2;KCT-4;LIR-D1;PGRL CD81 partner 3;OTTHUMP00000025751;OTTHUMP00000025753;glu-Trp-Ile EWI motif-containing protein 2;immunoglobulin superfamily member 8;keratinocytes-associated transmembrane protein 4;prostaglandin regulatory-like protein APPROVED protein-coding ENSG00000162729 HGNC:17813 09438 606644 REVIEWED 1312078 IGSF9 immunoglobulin superfamily, member 9 INVOLVED IN dendrite development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction (inferred); dendrite (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; calcitriol 1 1 1 q22-q23 132965270 132983825 - 159896829 159915386 - 159927039 159945596 - 6480464;8554872 10718198;11991715;12477932;12975309;14702039;16169070;8889548 57549 Q9P2J2 AB037776;ABBA01016617;AI758999;AK056650;AL513485;AMYH02002018;AY203932;AY358128;BC030141;CH471121;CK299326;NM_001135050;NM_020789 AAH30141;AAP34455;AAQ88495;ABM84562;ABM87853;BAA92593;EAW52756;EAW52757;EAW52758;NP_001128522;NP_065840;Q9P2J2 Hs.591472 FP18798;IGSF9A;KIAA1355;Nrt1 OTTHUMP00000024411;OTTHUMP00000024415;immunoglobulin superfamily member 9A;protein turtle homolog A protein-coding ENSG00000085552 HGNC:18132 10001 609738 VALIDATED 1346066 IHG1 iris hypoplasia with glaucoma 1 ASSOCIATED WITH Iris hypoplasia and glaucoma (inferred) 7240710 3548 HGNC:5954 308500 1350368 IHH indian hedgehog This gene encodes a member of the hedgehog family of secreted signaling molecules. Hedgehog proteins are essential regulators of a variety of developmental processes including growth, patterning and morphogenesis. The encoded protein specifically plays a role in bone growth an differentiation. Mutations in this gene are the cause of brachydactyly type A1 which is characterized by shortening or malformation of the phalanges. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Feb 2010] 2 2 2 q33-q35 213688833 213694930 - 219919142 219925238 - 219054420 219060516 - 1600032;1600033;1580863;5510013;5510025;6480464;6484113;6907045;7240710;8554872;8699517 11455389;12632327;20716670;20844013 10050855;10462495;11435703;11476578;12176676;12368206;12384778;12477932;12525541;12917489;14520411;14651602;14770182;15105288;15146555;15489334;15839736;16322088;16335952;16871364;17360475;17387386;17486609;17962696;18391951;18391952;18629882;18698484;18788453;18829534;19074837;19213939;19277064;19445942;19453261;19464397;19856079;20007344;20189936;20400458;20546612;20683927;20724312;20839884;20846217;20854074;20881264;20881960;21167467;21640343;21642379;21988832;22123293;22234151;22406540;22469853;22486854;22507129;22750747;23403897;23418531;23468532;23575478;23786654;23883825;7590746;7720571;8824192;9186520;9811851 3549 Q14623;Q4ZFW8 AB018076;ABBA01023853;AC097468;AI802733;AMYH02005813;BC034757;BC136587;BC136588;CH471063;CS126482;CS464812;L38517;NG_016741;NM_002181 AAA62178;AAH34757;AAI36588;AAI36589;AAX88920;BAA33523;CAJ18810;CAM31803;EAW70675;NP_002172;Q14623 Hs.654504 1744511;2108791;2161729;2161731 GDB:511564;IHH_7807;RH78911;SGC35345 BDA1;HHG-2;HHG2 Indian hedgehog homolog;OTTHUMP00000206322;indian hedgehog protein APPROVED protein-coding ENSG00000163501 HGNC:5956 02839 112500;600726;607778 REVIEWED 1604824 IGSF9B immunoglobulin superfamily, member 9B ENCODES a protein that exhibits kinase binding (inferred); INVOLVED IN homophilic cell adhesion via plasma membrane adhesion molecules (inferred); positive regulation of inhibitory postsynaptic membrane potential (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN dendrite (inferred); inhibitory synapse (inferred); integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); arsenite(3-) (ortholog); benzo[a]pyrene (ortholog) 11 11 11 q25 130958989 131000543 - 133778520 133826649 - 133908302 133956754 - 6480464;8554872 10470851;10737800;12975309;14702039;23251661 22997 E9PRP3;H0YDP1;Q8N7W7;Q9UPX0 AB028953;AB231704;ABBA01031108;ABBA01031109;AI208637;AK097578;AMYH02025829;AMYH02025830;AMYH02025831;AP000911;AP001979;AY358228;BG009128;NM_001277285;XM_006718795 AAQ88595;BAA82982;BAC05109;BAE46874;NP_001264214;Q9UPX0;XP_006718858 Hs.204121;Hs.440476 1299904;1335347;1738185;1758789;1764083;7185694 D11S3815;D11S4112;D11S968;SHGC-147741;SHGC-150570 KIAA1030 OTTHUMP00000235240;OTTHUMP00000235241;immunoglobulin superfamily member 9B;protein turtle homolog B protein-coding ENSG00000080854 HGNC:32326 613773 VALIDATED 1605589 IKBIP IKBKB interacting protein INVOLVED IN response to X-ray (inferred); FOUND IN endoplasmic reticulum; membrane; INTERACTS WITH 17beta-estradiol; 5-fluorouracil; aflatoxin B1 12 12 12 q23.1 98672181 98703485 - 99007182 99038829 - 98613404 98645051 - 6480464 12477932;14702039;15389287;17207965;19322201;19946888;20360068;21139048;21832049;21963094;22268729;22939629;23455924;24816145 121457 Q3B7K3;Q70UQ0 ABBA01053282;ABBA01053283;AC013283;AJ539425;AJ539426;AJ539427;AK055613;AK123069;AMYH02027038;AMYH02027039;AMYH02027040;BC029415;BC051372;BC058933;BC107572;BM468651;CH471054;NM_153687;NM_201612;NM_201613 AAH29415;AAH51372;AAH58933;AAI07573;ADQ32545;BAB70970;BAC85528;CAD62380;CAD62381;CAD62382;CAD62383;EAW97601;EAW97602;NP_710154;NP_963906;NP_963907;Q70UQ0 Hs.252543 2156337;5014051;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2278;D8S2279;L18426;RH48145 FLJ31051;IKIP I kappa B kinase interacting protein;IKBKB-interacting protein;IKK interacting protein;IKK-interacting protein;OTTHUMP00000243252;OTTHUMP00000243253;OTTHUMP00000243254;i kappa-B kinase-interacting protein;inhibitor of nuclear factor kappa-B kinase-interacting protein APPROVED protein-coding ENSG00000166130 HGNC:26430 08092 609861 VALIDATED 1347168 IK IK cytokine, down-regulator of HLA II The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2. [provided by RefSeq, Jul 2008] 5 5 5 q31.3 136104129 136118812 + 140027384 140042065 + 140647799 140662480 + 1580863;6480464 10216252;11407974;12477932;14499622;14702039;16169070;18624398;19064678;19471022;19845895;20237496;20677014;21139048;21509594;21693764;21832049;21890473;21906983;21963094;22190034;22351768;22365833;22505724;22586326;22797925;22939629;23000965;23455924;23752268;24457600;24550385;24816145;7970704;8125298;8619474;9110174;9160666 3550 D6RAH1;D6RAY9;D6RCQ4;D6REL4;E7EQZ7;Q13123;Q95HA6;Q9UK43 ABBA01026423;AC005369;AC116353;AF182645;AJ005579;AK097968;AK225924;AK293626;AK308730;AK312363;AL050296;AMYH02012340;AY007094;BC013005;BC051295;BC071964;CH471062;NM_006083;S74221 AAB32531;AAD55447;AAG01985;AAH13005;AAH71964;BAG35281;BAG57083;CAA06607;CAB43395;EAW62028;EAW62029;EAW62030;NP_006074;Q13123 Hs.421245 1739967;1768463;2127317;2135827;2135829 A001W31;D13S1216;D5S1760;G19719;RH78886 CSA2;MGC59741;RED IK factor;OTTHUMP00000223684;RD element;chondrosarcoma-associated protein 2;cytokine IK;prer protein APPROVED protein-coding ENSG00000113141 HGNC:5958 02771 600549 REVIEWED 734035 IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq, Jul 2008] 9 9 9 q31 82129095 82195809 - 111629800 111696608 - 108867520 108934328 - 1580863;5129156;5129157;5129155;5129158;5129159;6480464;7240710;8554872;8699517 11097445;11179008;11179021;11281413;12774215 10094049;11714725;11747609;11818576;12058026;12102458;12116234;12477932;12577200;14667819;14702039;14743216;15383276;16169070;16196087;16344560;16713582;16964593;17137217;17206408;17314511;17591626;17644305;17703412;18091349;18264947;18303054;18434448;19015235;19185337;19247692;19258923;19262425;19380743;19651702;19834596;19913121;20098615;20301359;20301612;20361209;20503287;20628086;20671422;21098405;21139048;21145461;21209961;21273291;21559466;21890473;21900206;21903422;21963094;22384137;22495984;22505724;22586326;22678362;22797925;22863883;22939629;23275444;23463506;23515154;23711097;24250222;24255178;24268683;24778252;24816145;8102296;8125298;9751059 8518 F5H2T0;H0YDF3;O95163;Q8N516 AB210033;ABBA01042777;AF044195;AF153419;AK001641;AK022559;AK024223;AK123257;AK127237;AK225798;AK289962;AK304742;AL049945;AL354797;AL359692;AMYH02021430;BC033094;BF968300;BX648204;CH471105;CR749385;DA400136;NG_008788;NM_003640;XM_005252285 AAC64258;AAG43369;AAH33094;BAE06115;BAF82651;BAG50955;BAG51092;BAG51274;BAG53883;BAG54459;BAG65501;CAB43219;CAH18235;EAW59027;EAW59028;EAW59029;EAW59030;EAW59031;NP_003631;O95163;XP_005252342 Hs.494738 1735918;1739183;1749973;1752991;1796070;1855717;2118181;2121824;2156066 D9S1055E;D9S1646;D9S2068;IKBKAP_749;SHGC-111681;SHGC-77920;STS-N27516;WI-14914;WI-16073 DKFZp781H1425;DYS;ELP1;FD;FLJ12497;IKAP;IKI3;TOT1;p150 IKK complex-associated protein;OTTHUMP00000021869;elongator acetyltransferase complex subunit 1;elongator complex protein 1;ikappaB kinase complex-associated protein;inhibitor of kappa light polypeptide enhancer in b-cells, kinase complex-associated protein APPROVED protein-coding ENSG00000070061 HGNC:5959 04763 223900;603722 REVIEWED 1318072 IKBKE inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009] 1 1 1 q32.1 179895028 179921668 + 206643586 206670223 + 206470243 206496890 + 1580863;6480464;6907045 10421793;10759890;10882136;11470787;11839743;11902829;11959143;12133833;12477932;12676577;12692549;12736252;12761501;14560022;14702039;14743216;15276183;15367631;15489227;15489334;15550384;15556946;15661910;15695821;15767399;15879144;15939554;16177806;16281057;16299251;16344560;16380379;16393995;16710414;16731946;16840782;16888014;16914100;17003035;17327220;17328045;17353931;17468758;17568778;17574021;17599067;17823124;18029348;18353649;18434448;18636086;18636090;19153231;19380491;19481526;19497997;19786281;19820708;19913121;19940156;20188669;20449947;20581830;20588308;20628086;20634891;21171089;21179067;21200404;21212807;21221132;21271611;21464307;21685032;21718646;21885437;21903422;21906983;21908616;21987572;22065572;22072751;22079989;22266464;22330135;22505724;22531926;22532683;22552702;22787218;22851696;22939624;22942254;23007157;23096996;23157677;23308279;23365428;23453969;23478265;23535865;23691078;23816933;23873932;23950712;24155403;24173023;24184958;24335286;24396068;24763515;24867235;24882218;8590280;8889548;9914500 9641 Q14164 AB016590;ABBA01010190;ABBA01010191;AC244034;AF241789;AK093798;AK310737;AL354681;AL706097;AX027541;AY660028;BC105923;BC105924;BC107591;BC107812;CB243308;CH471100;D63485;DA990116;DA999897;DB152295;DQ667176;FB750148;NM_001193321;NM_001193322;NM_014002;XM_005273356;XM_006711641 AAF45307;AAI05924;AAI05925;AAI07813;ABG25921;BAA09772;BAA85155;CAC09147;CAI15250;CAT02203;EAW93547;EAW93548;EAW93549;NP_001180250;NP_001180251;NP_054721;Q14164;XP_005273413;XP_006711704 Hs.321045 2124471;2135547;2149816 RH70483;SHGC-76223;STS-AA022666 IKK-E;IKK-i;IKKE;IKKI;KIAA0151;MGC125294;MGC125295;MGC125297 I-kappa-B kinase epsilon;IKK-epsilon;IKK-related kinase epsilon;OTTHUMP00000034540;inducible I kappa-B kinase;inducible IkappaB kinase;inhibitor of nuclear factor kappa-B kinase subunit epsilon APPROVED protein-coding ENSG00000263528 HGNC:14552 05442 605048 VALIDATED 733968 IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011] 8 8 8 p11.2 41077798 41138835 + 42128820 42190171 + 42271302 42332653 + 1580863;2292150;2292172;6480464;6484113;6907045;7495766;7495779;6484541;7495767;7495769;2298659;7495772;7495756;7495773;7495780;7495759;7495770;7495781;7495757;7495758;7495754;4892204;7495777;7495778;7495768;8699517;7240710;8554872 12075355;12655295;15939736;16397523;17543437;18267068;18827022;19073766;19246475;19249479;19276165;19546526;19652024;20080200;20143392;20200541;20362663;20500684;21087862;22018461;22562547;24261295 10022904;10195894;10356400;10469655;10485711;10497169;10521409;10713178;10722755;10723127;10733566;10755617;10779355;10783893;10807933;10848580;10962033;10968790;10980203;11002417;11057907;11080499;11096118;11113112;11120819;11158290;11278268;11359906;11429546;11460167;11527961;11585904;11594795;11606564;11777949;11815618;11821416;11830587;11839743;11864612;11945026;11954826;11959143;11971985;11976329;12054687;12070292;12133833;12210728;12244103;12351658;12393548;12411322;12459277;12477932;12482991;12486103;12486112;12492477;12547194;12589056;12612076;12637324;12645577;12657630;12707358;12709429;12842894;12890679;12943667;14514672;14560022;14585846;14585847;14585990;14597638;14625285;14654787;14702039;14715628;14743216;14990741;15084260;15125834;15128824;15140882;15184390;15217951;15218148;15226300;15254232;15276183;15319427;15383283;15389287;15456791;15489227;15489334;15492226;15494311;15564333;15601829;15749833;15761153;15790681;15802604;15808510;15837793;15856005;15856023;15880043;15951441;16024783;16046471;16051665;16082226;16123045;16126728;16135815;16177806;16207722;16267042;16280329;16286467;16291755;16319058;16344560;16365431;16393995;16424386;16497931;16547522;16583354;16603398;16611882;16728640;16840786;16906147;16920630;16938294;16966325;16982623;16989899;16997282;16998237;17000764;17016640;17047224;17079871;17114296;17145747;17182689;17213322;17237423;17244613;17287217;17363905;17363973;17419715;17446166;17466952;17568778;17616684;17684021;17693255;17703412;17891179;17939994;17947699;17962807;17977820;17997719;18029348;18037881;18163512;18180283;18207244;18260825;18266324;18266467;18308615;18316610;18362886;18408758;18411264;18434448;18456659;18490760;18519641;18571841;18583959;18600306;18626576;18636537;18657515;18692471;18949366;18952604;18957422;18981174;18990758;19050262;19104039;19109741;19141566;19150425;19196987;19202066;19243472;19258923;19270264;19365808;19422324;19453261;19488402;19526344;19573080;19591457;19594441;19656241;19675099;19716809;19728335;19730683;19773279;19786027;19815509;19818716;19820708;19850743;20005846;20007573;20026656;20051109;20056178;20068038;20098747;20145131;20152798;20164171;20167598;20176108;20331378;20347815;20368414;20371626;20410276;20421348;20434986;20448038;20448286;20449947;20465575;20503287;20529849;20568250;20600852;20614026;20627395;20657549;20693425;20797629;20803413;20856938;20925653;20932476;20933503;20977779;21029719;21048031;21139048;21204785;21220427;21248029;21317297;21331078;21344388;21390216;21399639;21474709;21482671;21575199;21606193;21606198;21670849;21703539;21724995;21784860;21798539;21803029;21810613;21811235;21903422;21911292;21985298;21987722;21988832;21993219;22022389;22099304;22262057;22331067;22435562;22511786;22605335;22637744;22748238;22766331;22824620;22848663;22863883;22891964;22955948;22990857;23007157;23016877;23017601;23032264;23069812;23090968;23108365;23123196;23131831;23178494;23349803;23386606;23453969;23506214;23555914;23589370;23636414;23732909;23743204;23774506;23776175;23776406;23792959;23816567;23817200;23872070;23963361;23974204;23986494;24086395;24127568;24155403;24240172;24266532;24270572;24322982;24337575;24369075;24450414;24469399;24611898;24613833;24721172;24811176;24816145;24911653;24912152;24981452;25036637;25049379;8601309;8657102;9214631;9252186;9346241;9346484;9346485;9520446;9632806;9689078;9721103;9744859;9751059;9751060;9763654;9813230;9819420;9878263;9891086;9914500 3551 B3KRB7;E5RFG5;E5RFT3;E5RGA0;E5RGW5;E5RIW0;E5RJH2;G3V105;J3KNS5;O14920 AB209090;ABBA01021152;ABBA01021153;AC083973;AF029684;AF031416;AF080158;AI379342;AK091090;AK091297;AK093537;AK095687;AK097828;AK290952;AK298241;AK302723;AK303294;AK303528;AK316418;AL708460;AMYH02017890;AY663108;BC006231;BC090865;BC108694;BC127663;BC141978;BC144080;BX648165;CH471080;DA043516;DA105584;DA159382;DA709000;KF458748;KF495673;NM_001190720;NM_001242778;NM_001556;NR_033818;NR_033819;NR_040009;XM_005273490;XM_005273491;XM_005273492;XM_005273493;XM_005273494;XM_005273495;XM_005273496;XM_005273498;XM_005273499 AAC51860;AAC64675;AAD08997;AAH06231;AAI08695;AAI27664;AAI41979;AAT65965;BAD92327;BAF83641;BAG52329;BAG60507;BAG63942;BAG64369;BAG64556;BAH14789;EAW63222;EAW63223;EAW63224;EAW63225;EAW63226;NP_001177649;NP_001229707;NP_001547;O14920;XP_005273547;XP_005273548;XP_005273549;XP_005273550;XP_005273551;XP_005273552;XP_005273553;XP_005273555;XP_005273556 Hs.597664 1680902;1703258;2118008;5015861;5022200;5022588;5022651;7185938 D10S16;D11S2921;D5S1597E;L18426;RH104595;RH75091;STS-N21119 FLJ33771;FLJ36218;FLJ38368;FLJ40509;IKK-B;IKK-beta;IKK2;IKKB;IMD15;MGC131801;NFKBIKB I-kappa-B kinase 2;I-kappa-B-kinase beta;OTTHUMP00000225854;OTTHUMP00000225858;OTTHUMP00000225860;OTTHUMP00000225865;OTTHUMP00000225866;inhibitor of nuclear factor kappa-B kinase subunit beta;nuclear factor NF-kappa-B inhibitor kinase beta APPROVED protein-coding ENSG00000104365 HGNC:5960 04462 603258;615592 REVIEWED 1626258 IKBKGP1 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 1 X X X q28 153945427 153953200 + 153867666 153876549 - 154639391 154648275 - 11709543 246210 ABBA01029065;AC244107;AF277315;NG_001576 1801028;1804238;1806584;1816208;1819900;1822792;1823580;1825206;1832626;1836138;1839152;1841086;1841920;1842870;2038026;2038030;2038032;2038034;2038036;2038214;2038216;2038218;2038220;2038222;2038224;2102662;2102664;2102666;2102668;2102670;2102672;2102762;2102764;2102766;2102768;2102770;2102772;2187569;2219160 A006S22;ECD01380;ECD03042;ECD04249;ECD09144;ECD11020;ECD12484;ECD12881;ECD13704;ECD17453;ECD19230;ECD20755;ECD21736;ECD22162;ECD22642;IKBKG_3230;REN90027;REN90029;REN90030;REN90031;REN90032;REN90126;REN90127;REN90128;REN90129;REN90130;REN90131;stSG604140;stSG604141;stSG604142;stSG604144;stSG604145;stSG604146;stSG604202;stSG604205;stSG604206;stSG604208;stSG604209;stSG604210 IKBKGP;deltaNEMO APPROVED pseudo HGNC:24455 INFERRED 1347094 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Aug 2011] X X X q28 153931508 153953200 + 153769419 153796804 + 154541165 154568573 + 1600008;1580863;2292150;2292172;6480464;6484113;6907045;7240710;8554872;8699517 10839543;12655295;18267068 10087442;10364167;10723127;10733566;10755617;10880512;10944468;10962024;10962033;10968790;10980203;11002417;11047757;11057907;11064457;11080499;11113112;11224521;11242109;11256614;11262391;11389905;11410370;11418127;11485410;11495908;11551959;11590134;11673821;11709543;11830587;11864612;11877453;11971901;11971985;12045264;12133833;12138192;12192055;12244103;12435599;12459277;12477932;12486103;12530972;12612076;12657630;12808104;12867425;12917689;12917690;12917691;12943667;14585847;14585990;14597638;14651848;14653779;14684825;14695475;14726382;14743216;14748687;14754897;14764716;15043934;15100680;15125833;15184390;15218148;15229184;15231748;15276183;15327770;15341735;15356572;15371500;15456791;15474016;15489334;15578091;15601829;15601896;15620648;15670770;15749833;15802604;15833158;15870263;16051665;16126728;16148947;16227629;16267042;16301747;16311516;16319058;16360037;16379012;16424386;16497931;16543241;16547522;16583354;16603398;16611882;16627981;16684768;16697380;16737960;16794254;16831874;16874300;16906147;17000764;17043643;17047224;17135271;17145747;17244613;17314097;17314283;17363905;17363973;17401323;17401626;17468758;17568778;17626013;17693255;17702576;17728323;17766391;17891179;17910706;17932497;17939994;17942533;17948050;17977820;17997719;18029035;18029348;18037881;18079694;18180283;18187620;18201555;18207244;18212736;18216269;18221368;18266324;18266467;18287044;18313693;18347055;18350553;18429822;18511905;18519641;18583959;18617513;18620544;18625728;18626576;18685082;18841575;18851874;18931663;18949366;18952891;18957422;19033441;19064727;19149237;19185524;19285159;19303852;19305025;19327867;19365808;19373245;19373254;19404319;19422324;19453261;19494296;19531477;19603533;19609363;19656162;19656241;19675569;19687056;19763089;19815509;19820708;19854204;19875381;19880420;19897484;19948975;19956647;20005846;20010814;20026645;20065354;20098747;20161788;20164171;20167598;20211142;20301198;20301552;20301645;20353939;20368414;20380930;20412081;20434027;20484576;20499091;20529958;20542322;20586999;20724660;20837477;20890435;20923877;20932475;20932476;20959607;20970423;21057728;21097508;21109981;21113135;21131783;21139048;21153314;21184742;21212807;21217772;21220427;21286028;21309033;21383699;21455180;21458669;21474709;21486954;21512573;21513986;21518757;21538482;21606198;21622571;21622647;21703539;21704885;21709223;21722947;21777808;21790911;21803029;21811235;21862579;21862596;21890473;21896478;21903422;21906983;21963094;21988832;22054014;22081069;22099304;22118674;22176836;22300264;22341466;22505724;22513115;22517901;22525270;22547678;22605335;22607974;22732732;22848449;22863883;22901541;22939629;22990857;23000965;23000966;23007157;23028469;23032186;23032187;23102662;23123196;23131831;23144700;23453969;23483900;23506214;23524849;23575687;23690623;23732909;23746843;23776175;23807287;23950712;23986494;24012789;24030825;24100029;24109239;24240172;24266532;24270048;24270572;24339369;24456201;24469399;24491438;24586659;24672029;24735611;24816145;24832601;24957606;25036637;9744859;9751060;9891086;9927690 8517 C9J2V2;C9JCG6;C9JH59;C9JN51;Q9Y6K9 ABBA01045263;ABBA01045264;AC244090;AF062089;AF074382;AF091453;AF261086;AF277315;AJ271718;AK000593;AK308366;AY114157;AY429546;AY429547;AY429548;BC000299;BC012114;BC046922;BC050612;BT019621;CH471172;DC410130;NG_009896;NM_001099856;NM_001099857;NM_001145255;NM_003639;XM_005274760;XM_005274761;XM_005274763;XM_005274764;XM_006724853 AAC36330;AAD12183;AAD38081;AAF99679;AAH00299;AAH12114;AAH46922;AAH50612;AAL27012;AAM44073;AAV38427;ABM82309;ABM85486;CAB93146;EAW72677;EAW72678;EAW72679;EAW72680;EAW72681;NP_001093326;NP_001093327;NP_001138727;NP_003630;Q9Y6K9;XP_005274817;XP_005274818;XP_005274820;XP_005274821;XP_006724916 Hs.43505 1741239;1748051;1748053;1748069;1801028;1804238;1806584;1807554;1816208;1817286;1817854;1818490;1819510;1819900;1822790;1822792;1823580;1825206;1829126;1830532;1831556;1832248;1832626;1832806;1836138;1838318;1839152;1840956;1841086;1841920;1842870;1843212;1844316;2037914;2037916;2037918;2037920;2037922;2037924;2037926;2037928;2037930;2037932;2037934;2037936;2037938;2037940;2037942;2037944;2037946;2037948;2037950;2037952;2037954;2037956;2037958;2037960;2037962;2037964;2037966;2037968;2037970;2037972;2037974;2037976;2037978;2037980;2037982;2037984;2037986;2037988;2037990;2037992;2037994;2037996;2037998;2038000;2038002;2038004;2038006;2038008;2038010;2038012;2038014;2038016;2038018;2038020;2038022;2038024;2038026;2038028;2038030;2038032;2038034;2038036;2038216;2038218;2038220;2038222;2038224;2102642;2102644;2102646;2102648;2102650;2102652;2102654;2102656;2102658;2102660;2187569;2219160 A006S22;ECD01380;ECD03042;ECD04249;ECD04749;ECD09144;ECD09693;ECD09981;ECD10306;ECD10822;ECD11020;ECD12483;ECD12484;ECD12881;ECD13704;ECD15690;ECD16402;ECD16915;ECD17262;ECD17453;ECD17544;ECD19230;ECD20333;ECD20755;ECD21671;ECD21736;ECD22162;ECD22642;ECD22814;ECD23372;G65806;G65807;G65810;GDB:179459;IKBKG_3230;REN89971;REN89972;REN89973;REN89974;REN89975;REN89976;REN89977;REN89978;REN89979;REN89980;REN89981;REN89982;REN89983;REN89984;REN89985;REN89986;REN89987;REN89988;REN89989;REN89990;REN89991;REN89992;REN89993;REN89994;REN89995;REN89996;REN89997;REN89998;REN89999;REN90000;REN90001;REN90002;REN90003;REN90004;REN90005;REN90006;REN90007;REN90008;REN90009;REN90010;REN90011;REN90012;REN90013;REN90014;REN90015;REN90016;REN90017;REN90018;REN90019;REN90020;REN90021;REN90022;REN90023;REN90024;REN90025;REN90026;REN90027;REN90028;REN90029;REN90030;REN90031;REN90032;REN90127;REN90128;REN90129;REN90130;REN90131;stSG604127;stSG604128;stSG604129;stSG604130;stSG604131;stSG604135;stSG604136;stSG604137;stSG604138;stSG604139 AMCBX1;FIP-3;FIP3;Fip3p;IKK-gamma;IKKAP1;IKKG;IMD33;IP;IP1;IP2;IPD2;NEMO;ZC2HC9 I-kappa-B kinase subunit gamma;IkB kinase gamma subunit;NF-kappa-B essential modifier;NF-kappa-B essential modulator;NFkappaB essential modulator;OTTHUMP00000026026;OTTHUMP00000026027;OTTHUMP00000026028;OTTHUMP00000026029;OTTHUMP00000026030;OTTHUMP00000196183;OTTHUMP00000196186;OTTHUMP00000207079;OTTHUMP00000212188;ikB kinase subunit gamma;ikB kinase-associated protein 1;incontinentia pigmenti;inhibitor of nuclear factor kappa-B kinase subunit gamma APPROVED protein-coding ENSG00000269335 HGNC:5961 02217 300248;300291;300301;300584;300636;300640;308300 REVIEWED 1345718 IKZF1 IKAROS family zinc finger 1 (Ikaros) This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014] 7 7 7 p12.2 50439276 50537765 + 50444231 50472799 + 50304782 50405101 + 1580863;6480464;8554872 10204490;10218586;10357820;10463586;10577847;10753856;10766745;10978333;11003653;11489963;11799125;11812772;11908734;11937265;11959865;12015313;12094252;12127581;12200376;12412579;12477932;12626565;12690205;12799380;12937159;1439790;15390181;15489334;15618287;16081070;16189514;16205638;16344560;16364975;17207965;17357110;17383641;17476278;17681952;18332232;18408710;18464116;18483254;18650450;18838475;19114560;19116116;19129520;19131787;19282287;19285729;19454010;19589926;19620299;19620627;19668339;19684603;19684604;19760754;19770381;19796813;19838193;19862010;20042726;20139093;20233627;20346360;20432734;20445578;20508609;20516000;20596648;20680283;20684991;20919861;21048031;21102428;21102463;21169835;21270240;21329675;21383526;21548011;21737484;21740479;21792038;21889209;21900206;21960589;21988832;22046141;22106042;22150303;22157735;22231443;22297722;22301782;22323189;22368272;22382891;22441210;22505724;22660188;22699455;22782532;22848414;22859015;22868967;22868968;22875627;22922568;22931634;22997141;23016962;23022380;23065506;23071339;23128233;23222517;23236436;23273568;23382691;23512250;23580163;23585525;23608171;23692655;23751147;23752268;23773228;23804397;23823658;23930217;23974192;23977012;23996088;24002445;24018820;24064621;24072102;24097068;24292623;24328678;24366361;24402122;24497567;24522918;24575094;24597983;24618732;24659638;24692537;24697319;24722188;24724051;24816145;7935426;8543809;8964602;9155026;9560339;9892693 10320 C9JTB0;Q13422;Q3T907;R9R4D9 ABBA01008170;ABBA01011801;AC124014;AC233268;AF116605;AF432219;AK303586;AK308411;AM085310;AMYH02015691;AMYH02015693;AUXG01000057;AW337855;AY377974;BC018349;BC064594;BC075820;BF797348;BI767330;BM148203;BT009836;BU537824;BU665456;CA447462;CH236955;CH471128;DA944555;DB122945;DB148957;DC391353;JX459579;NG_034231;NM_001220765;NM_001220766;NM_001220767;NM_001220768;NM_001220769;NM_001220770;NM_001220771;NM_001220772;NM_001220773;NM_001220774;NM_001220775;NM_001220776;NM_001291837;NM_001291838;NM_001291839;NM_001291840;NM_001291841;NM_001291842;NM_001291843;NM_001291844;NM_001291845;NM_001291846;NM_001291847;NM_006060;S80876;U40462 AAB50683;AAC50459;AAF71030;AAH18349;AAL99925;AAP88838;AAR84585;ADQ32789;AGI59420;BAG64603;CAJ29975;EAL23900;EAL23901;EAW60977;EAW60978;EAW60979;EAW60980;EAW60981;EAW60982;NP_001207694;NP_001207695;NP_001207696;NP_001207697;NP_001207698;NP_001207699;NP_001207700;NP_001207701;NP_001207702;NP_001207703;NP_001207704;NP_001207705;NP_001278766;NP_001278767;NP_001278768;NP_001278769;NP_001278770;NP_001278771;NP_001278772;NP_001278773;NP_001278774;NP_001278775;NP_001278776;NP_006051;Q13422 Hs.435949;Hs.488251;Hs.646004;Hs.731495 1661611;1790535;1790541;2146790;2153489;2172265;2183405;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;GDB:1318324;HSC183_(GAP_102_G);HSC186_(GAP_20_X);RH64966;RH65205;SGC33450;SHGC-36405 Hs.54452;IK1;LYF1;LyF-1;PPP1R92;PRO0758;ZNFN1A1;hIk-1 CLL-associated antigen KW-6;DNA-binding protein Ikaros;IKAROS;Ikaros (zinc finger protein);OTTHUMP00000208887;OTTHUMP00000208888;OTTHUMP00000208889;OTTHUMP00000208890;ikaros family zinc finger protein 1;lymphoid transcription factor LyF-1;zinc finger protein, subfamily 1A, 1 (Ikaros) APPROVED protein-coding ENSG00000185811 HGNC:13176 04318 603023 REVIEWED 1318602 IKZF2 IKAROS family zinc finger 2 (Helios) This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q34 207628331 207780208 - 213864408 214016379 - 212999684 213154221 - 1580863;6480464;8554872 10541817;10978333;11937265;12015313;12115658;12153174;12477932;12752680;12943985;15489334;17297655;17681952;18332232;19198610;19860791;19913121;20226531;20432734;20628086;21570917;21918685;22505724;22753928;22931634;23022380;23088713;23264341;23359504;23365462;23409157;23600753;23752268;24250222;24722188;24816145;9512513;9560339 22807 B4DWF2;E7EPU0;E7ES26;E7EUI1;F5H8M1;Q9UKS7 ABBA01062767;ABBA01062768;AC013736;AC079610;AC108066;AF130863;AI458439;AK301503;AL157504;AMYH02005713;AMYH02005714;AY008294;AY587062;AY587063;AY587064;AY587065;AY587066;AY587067;AY587068;AY587069;AY587070;AY587071;AY587072;AY587073;BC028936;CH471063;NM_001079526;NM_016260;XM_005246383;XM_005246384;XM_005246385;XM_005246386;XM_006712366;XM_006712367;XM_006712368 AAF09441;AAG22856;AAH28936;AAS99855;AAS99856;AAS99857;AAS99858;AAS99859;AAS99860;AAS99861;AAS99862;AAS99863;AAS99864;AAS99865;AAS99866;AAX93263;AAY24238;AAY24327;ABZ92398;ADZ16068;BAG63014;EAW70502;EAW70503;EAW70504;EAW70505;EAW70506;EAW70507;EAW70508;EAW70509;EAW70510;EAW70511;EAW70512;EAW70513;EAW70514;NP_001072994;NP_057344;Q9UKS7;XP_005246440;XP_005246441;XP_005246442;XP_005246443;XP_006712429;XP_006712430;XP_006712431 Hs.604950 1697426;1704340;1713493;1775207;2127990;2147725;2218156 261ZE1;AFM337xf1;D2S1380;RH102213;RH120230;SHGC-78138;ZNFN1A2_3786 ANF1A2;MGC34330;ZNF1A2;ZNFN1A2 HELIOS;OTTHUMP00000163964;OTTHUMP00000163965;OTTHUMP00000206629;OTTHUMP00000206709;ikaros family zinc finger protein 2;zinc finger DNA binding protein Helios;zinc finger protein Helios;zinc finger protein, subfamily 1A, 2 (Helios) APPROVED protein-coding ENSG00000030419 HGNC:13177 05872 606234 REVIEWED 1315971 IKZF3 IKAROS family zinc finger 3 (Aiolos) This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012] 17 17 17 q21 34581293 34680706 - 37913968 38020441 - 39757715 39864188 - 1580863;6480464;6484113;8554872 10204490;10369681;10552935;10766745;10978333;11714801;11745366;11937265;11997672;12015313;12477932;12574333;16189514;17117180;17296582;17383641;17646674;18029348;18184862;18206652;18332232;18978678;19124506;19458352;19540588;20432734;20453842;20639880;20676092;21102463;21139082;21297633;21906983;22464253;22626592;23000144;23022380;23128233;23333304;23740937;23817569;24292623;24328678;24388013;24399134;24722188;24816145;24823637;9155026;9560339;9806640 22806 Q9UKT9 ABBA01031852;ABBA01031853;ABBA01031854;ABBA01031855;ABBA01031856;AC079199;AC090844;AF086054;AF129512;AI866838;AJ292565;AJ292566;AJ292567;AJ292568;AJ292569;AK128436;AK301250;AK303495;AMYH02033388;AY377973;AY377975;AY377976;AY377977;AY377978;AY377979;AY377980;AY377981;AY377982;BC032707;CH471152;HG509027;NG_029104;NM_001257408;NM_001257409;NM_001257410;NM_001257411;NM_001257412;NM_001257413;NM_001257414;NM_001284514;NM_001284515;NM_001284516;NM_012481;NM_183228;NM_183229;NM_183230;NM_183231;NM_183232 AAF13493;AAH32707;AAR84584;AAR84586;AAR84587;AAR84588;AAR84589;AAR84590;AAR84591;AAR84592;AAR84593;ABZ92305;ADZ15403;BAG62817;BAG64529;CAC80427;CAC80428;CAC80429;CAC80430;CAC80431;EAW60604;EAW60605;EAW60606;EAW60607;EAW60608;EAW60609;NP_001244337;NP_001244338;NP_001244339;NP_001244340;NP_001244341;NP_001244342;NP_001244343;NP_001271443;NP_001271444;NP_001271445;NP_036613;NP_899051;NP_899052;NP_899053;NP_899054;NP_899055;Q9UKT9 Hs.371680 1675533;1701304;1749971;1777337;2186716;2218158;5014063;5015961;5016478;5016596;5016781;5021369;5022322;5024756;5037552;5092650 A005M19;D11S2560;D15S1390;D15S1477;D8S2279;G32239;GDB:434012;GDB:631802;L17796;RH104281;RH46016;RH76539;RH80030;SHGC-111679;SHGC-67307;ZNFN1A3_3785 AIO;RP11-94L15.2;ZNFN1A3 AIOLOS;OTTHUMP00000164335;OTTHUMP00000164336;OTTHUMP00000164337;OTTHUMP00000164338;OTTHUMP00000164339;OTTHUMP00000164340;OTTHUMP00000164341;OTTHUMP00000164342;OTTHUMP00000164343;OTTHUMP00000164344;OTTHUMP00000164345;OTTHUMP00000164346;ikaros family zinc finger protein 3;zinc finger DNA binding protein Aiolos;zinc finger protein Aiolos;zinc finger protein, subfamily 1A, 3 (Aiolos) APPROVED protein-coding ENSG00000161405 HGNC:13178 05869 606221 REVIEWED 1312328 IKZF4 IKAROS family zinc finger 4 (Eos) Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002] 12 12 12 q13 56067374 56084906 + 56401268 56432219 + 56007475 56038435 + 6480464;8554872 10218586;10978333;11347906;12015313;12444977;14702039;15494726;16344560;18198356;18255255;19696312;20596022;21804548;21829393;22561518;22951725;23721563 64375 F8VPL6;F8VW19;G5E9S4;Q9H2S9 AB058685;ABBA01008398;ABBA01008399;AC034102;AF230809;AK055063;AK122880;AK314543;AMYH02026557;BX647761;CH471054;DA797441;NM_022465;XM_005269086;XM_005269087;XM_005269089;XM_005269090;XM_005269091;XM_005269092;XM_005269093;XM_005269096;XM_006719561;XM_006719562 AAG39221;AAI60169;BAB47411;BAG37131;BAG53777;EAW96872;EAW96873;EAW96874;NP_071910;Q9H2S9;XP_005269143;XP_005269144;XP_005269146;XP_005269147;XP_005269148;XP_005269149;XP_005269150;XP_005269153;XP_006719624;XP_006719625 Hs.553221 1340027;1851464;2151241;2218160 D12S1632;RH45768;RH69851;ZNFN1A4_3673 EOS;KIAA1782;ZNFN1A4 OTTHUMP00000243022;OTTHUMP00000243025;OTTHUMP00000243026;ikaros family zinc finger protein 4;zinc finger protein Eos;zinc finger protein, subfamily 1A, 4 (Eos);zinc finger transcription factor Eos APPROVED protein-coding ENSG00000123411 HGNC:13179 05874 606239 VALIDATED 1322164 IKZF5 IKAROS family zinc finger 5 (Pegasus) Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002] 10 10 10 q26 118459665 118474783 - 124750322 124768366 - 122990806 123008850 - 1580863;6480464;8554872 10978333;12477932;12511597;14702039;16189514;18029348 64376 Q9H5V7 ABBA01062838;AC073585;AF230808;AI560579;AK023288;AK026626;AK055507;AK122899;AK226143;AMYH02023959;BC022564;BX647958;CH471066;CR749800;DA218215;DA227834;DB080324;DB224006;NM_001271840;NR_073475;NR_073476;NR_073477;NR_073478;NR_073479;XM_006717947 AAG39220;ABM83326;ABM86540;BAB15512;BAG53789;CAH18660;CAH56199;EAW49292;EAW49293;EAW49294;NP_001258769;Q9H5V7;XP_006718010 Hs.501289 1678643;1735984;1776849;2108681 D10S1273E;RH94240;SHGC-34259;ZNFN1A5_8083 DKFZp781B0249;FLJ22973;ZNFN1A5 OTTHUMP00000020670;Pegasus;ikaros family zinc finger protein 5;zinc finger protein Pegasus;zinc finger protein, subfamily 1A, 5 (Pegasus);zinc finger protein, subfamily 1a, 5;zinc finger transcription factor Pegasus APPROVED protein-coding ENSG00000095574 HGNC:14283 05873 606238 VALIDATED 731000 IL10RA interleukin 10 receptor, alpha The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009] 11 11 11 q23 115014946 115030037 + 117857106 117872198 + 117986386 118001483 + 1580863;2316323;2311043;6480464;5688379;6907045;7240710;8699517;8554872 12620647;19428551;21115385 10231374;10433356;10563471;11254683;11485736;11490020;11591769;11717514;12023331;12093920;12133952;12374810;12477932;12496489;12591723;12673894;12759436;15063762;15340161;15489334;15729365;15837194;16491350;16961803;16971956;17066477;17115186;17152005;17331973;17703412;17845543;17961716;17988330;18308712;18344594;18365030;18633131;18674658;18676680;18800073;18818748;19012493;19016528;19019335;19170196;19258923;19336370;19409109;19527514;19573080;19625176;19692168;19738620;19772791;19773279;19773451;19798061;19890111;19913121;20186944;20232770;20237496;20299965;20331378;20424473;20452482;20453000;20463618;20478055;20503287;20531015;20568250;20588308;20617924;20628086;20673868;20811626;20976276;21396623;21532858;21553229;21635228;21654841;21814839;22087322;22155628;22549091;22550014;22649007;22652629;23096091;23166328;23251661;23455702;23839161;24089328;24216686;24367025;24379584;24581234;7540068;7544437;7759550;7814035;8120391;8248239;8407942;8662928;8897595;9312047 3587 E9PKU2;E9PPU4;Q13651 AB209626;ABBA01039716;AK291645;AK301260;AK301484;AK301492;AK313049;AK316146;AK316342;AMYH02025635;AP002962;AY195619;BC028082;BM193545;CA307153;CH471065;EF444988;JN591377;NG_016275;NM_001558;NR_026691;U00672;XM_006718833 AAA17896;AAH28082;AAN86349;ABM81957;ABM84646;ACA06005;AEX60806;BAD92863;BAF84334;BAG62826;BAG62998;BAG63003;BAH14517;BAH14713;EAW67343;NP_001549;Q13651;XP_006718896 Hs.504035 1779163;2154028;2161511 G15965;RH17971;WI-7357 CD210;CD210a;CDW210A;HIL-10R;IL-10R1;IL10R IL-10 receptor subunit alpha;IL-10R subunit 1;IL-10R subunit alpha;IL-10RA;OTTHUMP00000233150;interleukin-10 receptor alpha chain;interleukin-10 receptor subunit 1;interleukin-10 receptor subunit alpha APPROVED protein-coding ENSG00000110324 HGNC:5964 00911 146933;613148 REVIEWED 1345772 IL10RB interleukin 10 receptor, beta The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 19824681 19855530 + 34638665 34669539 + 33266360 33297234 + 1580863;5490305;5688379;6480464;6907045;8554872;8699517 21115385;21240009 10077530;10830953;10875937;10954742;11416224;11450494;11485736;12469119;12477932;12483210;15178681;15340161;15489334;15985167;16109775;16344560;17062437;17152005;17567994;17703412;18588853;18674658;18675824;18715339;18818748;19019335;19258923;19295315;19409109;19527514;19573080;19577285;19714778;19773279;19773451;19890111;19913121;20087947;20140262;20237496;20424473;20503287;20568250;20628086;20800603;20811626;20976276;21139048;21532858;21814839;22549091;22550014;23096091;23128233;23745570;23749100;24089328;24216686;24379584;24581234;7563119;8314576;9047351;9312047;9463407 3588 F8WDX2;H7C0Z5;Q08334 ABBA01057336;ABBA01057337;AI025402;AK124057;AK299961;AK313348;AMYH02037735;AP000295;AU133530;AY323826;BC001903;BT009777;CH471079;JN591378;NG_012089;NM_000628;U08988;Z17227 AAA86872;AAH01903;AAP72016;AAP88779;ABM83478;ABM86689;AEX60807;BAC85761;BAG61787;CAA78933;EAX09840;EAX09841;NP_000619;Q08334 Hs.654593 1683533;1730906;1734346;1745813;1757227;1759865;1771902;1810536;1813598;1814422;1815954;1816206;1819840;1822638;1823408;1823410;1824712;1827660;1828974;1829296;1829686;1829688;1830614;1830740;1834158;1835358;1836284;1836696;1838200;1842110;1842388;1842642;1843970;1845202;2027090;2027092;2027094;2027096;2027098;2027100;2027102;2027104;2027106;2027108;2027110;2027112;2027114;2027116;2027118;2027120;2027122;2027124;2027126;2027128;2027130;2027132;2027134;2027136;2027138;2027140;2027142;2027144;2027146;2027148;2027150;2027152;2027154;2027156;2027158;2027160;2027162;2027164;2027166;2027168;2027170;2027172;2027174;2027176;2027178;2027180;2027182;2027184;2027186;2027188;2027190;2027192;2027194;2027196;2027198;2027200;2027202;2027204;2027206;2027208;2027210;2027212;2027214;2027216;2027218;2027220;2027222;2027224;2027226;2027228;2027230;2027232;2027234;2027236;2027238;2027240;2027242;2027244;2027246;2027248;2027250;2027252;2027254;2027256;2027258;2027260;2027262;2027264;2027266;2027268;2027270;2027272;2027274;2027276;2027278;2027280;2027282;2027284;2027286;2027288;2027290;2027292;2027294;2027296;2027298;2027300;2027302;2027304;2027306;2027308;2027310;2027312;2027314;2027316;2027318;2027320;2027322;2027324;2027326;2027328;2027330;2027332;2027334;2027336;2027338;2027340;2027342;2027344;2027346;2027348;2027350;2027352;2027354;2027356;2027358;2027360;2027362;2027364;2027366;2027368;2101002;2101004;2101006;2101008;2101010;2101012;2101014;2101016;2101018;2101020;2101022;2101024;2101026;2101028;2101030;2101032;2101034;2101036;2101038;2101040;2123320;2133390;2141688;2217478;5020948;5109281 D1S1425;D21S1691;D21S58;ECD06261;ECD07822;ECD08240;ECD09017;ECD09143;ECD10990;ECD12407;ECD12795;ECD12796;ECD13454;ECD14950;ECD15614;ECD15777;ECD15975;ECD15976;ECD16443;ECD16506;ECD18227;ECD18834;ECD19303;ECD19512;ECD20272;ECD22258;ECD22397;ECD22528;ECD23197;ECD23818;G15858;G35510;GDB:642263;IL10RB_3282;REN84547;REN84548;REN84549;REN84550;REN84551;REN84552;REN84553;REN84554;REN84555;REN84556;REN84557;REN84558;REN84559;REN84560;REN84561;REN84562;REN84563;REN84564;REN84565;REN84566;REN84567;REN84568;REN84569;REN84570;REN84571;REN84572;REN84573;REN84574;REN84575;REN84576;REN84577;REN84578;REN84579;REN84580;REN84581;REN84582;REN84583;REN84584;REN84585;REN84586;REN84587;REN84588;REN84589;REN84590;REN84591;REN84592;REN84593;REN84594;REN84595;REN84596;REN84597;REN84598;REN84599;REN84600;REN84601;REN84602;REN84603;REN84604;REN84605;REN84606;REN84607;REN84608;REN84609;REN84610;REN84611;REN84612;REN84613;REN84614;REN84615;REN84616;REN84617;REN84618;REN84619;REN84620;REN84621;REN84622;REN84623;REN84624;REN84625;REN84626;REN84627;REN84628;REN84629;REN84630;REN84631;REN84632;REN84633;REN84634;REN84635;REN84636;REN84637;REN84638;REN84639;REN84640;REN84641;REN84642;REN84643;REN84644;REN84645;REN84646;REN84647;REN84648;REN84649;REN84650;REN84651;REN84652;REN84653;REN84654;REN84655;REN84656;REN84657;REN84658;REN84659;REN84660;REN84661;REN84662;REN84663;REN84664;REN84665;REN84666;REN84667;REN84668;REN84669;REN84670;REN84671;REN84672;REN84673;REN84674;REN84675;REN84676;REN84677;REN84678;REN84679;REN84680;REN84681;REN84682;REN84683;REN84684;REN84685;REN84686;RH79178;RH98776;SHGC-144647;SHGC-170105;SHGC-87551;STS-U08988;stSG607042;stSG607043;stSG607044;stSG607046;stSG607047;stSG607048;stSG607049;stSG607050;stSG607051;stSG607053;stSG607054;stSG607055;stSG607056;stSG607058;stSG607059;stSG607060;stSG607061;stSG607062;stSG607063;stSG607064 CDW210B;CRF2-4;CRFB4;D21S58;D21S66;IL-10R2 IL-10 receptor subunit beta;IL-10R subunit 2;IL-10R subunit beta;IL-10RB;OTTHUMP00000067678;OTTHUMP00000221101;cytokine receptor class-II CRF2-4;cytokine receptor class-II member 4;cytokine receptor family 2 member 4;cytokine receptor family II, member 4;interleukin-10 receptor subunit 2;interleukin-10 receptor subunit beta APPROVED protein-coding ENSG00000243646 HGNC:5965 00473 123889 REVIEWED 7252141 IL10RB-AS1 IL10RB antisense RNA 1 (head to head) 21 21 21 q22.11 19822187 19836382 - 34637937 34638565 - 33265632 33266260 - 16344560;19913121;20628086 100288432 ABBA01057336;AI762858;AK123722;AMYH02037735;AP000295;DA593029;NG_016003;NR_038974 Hs.709795 1730906;1757227;1759865;1778357;1810536;1814422;1815954;1816206;1822638;1825124;1828974;1830614;1834158;1836284;1842110;1842642;1843970;1845202;2027082;2027084;2027086;2027088;2027090;2027092;2027094;2027096;2027098;2027100;2027102;2027104;2027106;2027108;2027110;2027112;2027114;2027116;2027118;2027120;2027122;2027124;2027126;2027128;2027130;2027132;2027134;2027136;2027138;2027140;2027142;2027144;2027146;2027148;2027150;2027152;2027154;2027156;2027158;2027160;2027162;2027164;2027166;2027168;2027170;2027172;2027174;2027176;2027178;2027180;2027182;2027184;2027186;2027188;2027190;2027192;2027194;2027196;2027198;2027200;2027202;2027204;2027206;2027208;2027210;2027212;2027214;2027216;2027218;2027220;2027222;2027224;2101000;2130950;5022200 D21S58;ECD06261;ECD08240;ECD09017;ECD09143;ECD12407;ECD13663;ECD15614;ECD16443;ECD18227;ECD19303;ECD22258;ECD22528;ECD23197;ECD23818;L18426;REN84543;REN84544;REN84545;REN84546;REN84547;REN84548;REN84549;REN84550;REN84551;REN84552;REN84553;REN84554;REN84555;REN84556;REN84557;REN84558;REN84559;REN84560;REN84561;REN84562;REN84563;REN84564;REN84565;REN84566;REN84567;REN84568;REN84569;REN84570;REN84571;REN84572;REN84573;REN84574;REN84575;REN84576;REN84577;REN84578;REN84579;REN84580;REN84581;REN84582;REN84583;REN84584;REN84585;REN84586;REN84587;REN84588;REN84589;REN84590;REN84591;REN84592;REN84593;REN84594;REN84595;REN84596;REN84597;REN84598;REN84599;REN84600;REN84601;REN84602;REN84603;REN84604;REN84605;REN84606;REN84607;REN84608;REN84609;REN84610;REN84611;REN84612;REN84613;REN84614;RH18027;SHGC-144647;SHGC-170105;SHGC-52139;stSG607040 IFNAR2-AS1 ncrna HGNC:44303 VALIDATED 735591 IL10 interleukin 10 The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis.[provided by RefSeq, May 2011] 1 1 1 q31-q32 180192396 180197294 - 206940948 206945839 - 206767603 206772494 - 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3586 P22301;Q6FGW4 ABBA01010192;AF043333;AF295024;AF418271;AL513315;AMYH02002554;AY029171;BC022315;BC104252;BC104253;CH471100;CR541993;CR542028;DQ217938;GQ405199;M57627;NG_012088;NM_000572;U16720;X78437 AAA63207;AAA80104;AAC03534;AAI04253;AAI04254;AAK19173;AAK38162;AAL06594;ABB01008;ACV30066;CAA55201;CAG46790;CAG46825;EAW93524;NP_000563;P22301 Hs.193717 1693014;1745381;1775746;1791504;1793032;2113670;2179015;5015619;5037552 AL009920;AL034234;D11S3114;D8S2279;GDB:603928;IL10;PMC112029P1;PMC18942P1;SHGC-76259 CSIF;GVHDS;IL-10;IL10A;MGC126450;MGC126451;TGIF OTTHUMP00000034567;T-cell growth inhibitory factor;cytokine synthesis inhibitory factor;interleukin-10 1643243 BW132_H APPROVED protein-coding ENSG00000136634 HGNC:5962 00495 124092;180300;609423;614395 REVIEWED 732444 IL11RA interleukin 11 receptor, alpha Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] 9 9 9 p13 34583653 34593355 + 34652182 34661899 + 34652185 34661902 + 6480464;6907045;8699517;7240710;8554872 10026196;10504396;11141475;11181995;11241561;11315919;11498264;12200462;12477932;12569176;14701802;14702039;14744752;15489334;15512823;16291580;16344560;16614887;16964382;17332920;18941632;18987331;19423540;19913121;20406964;20438785;20553623;20628086;21982075;22075555;22433466;7670098;8786120;8808281;9632650 3590 G3V2A5;G3V2G0;G3V2J5;G3V3V2;G3V428;G3V571;H0YCS8;Q14626;Q5VZ79 ABBA01065007;AI377039;AK075530;AK094689;AK292073;AL162231;AMYH02019452;AY532110;BC003110;BT009864;CH471071;DA917660;DC424068;NG_028966;NM_001142784;NR_052010;U32323;U32324;Z38102;Z46595;Z46596 AAB36491;AAB36492;AAH03110;AAP88866;AAS00093;ABM83268;ABM86474;BAF84762;BAG52913;CAA86224;CAA86570;EAW58422;EAW58423;EAW58424;EAW58425;EAW58426;NP_001136256;Q14626 Hs.591088 1666126;2151283;2155805;2191755 D9S1978;MARC_7064-7065:996687499:1;SHGC-35540;STS-U32324 CRSDA;MGC2146 IL-11 receptor subunit alpha;IL-11R subunit alpha;IL-11R-alpha;IL-11RA;OTTHUMP00000021300;OTTHUMP00000021301;OTTHUMP00000244525;OTTHUMP00000244527;OTTHUMP00000244532;interleukin 11 receptor, alpha chain 1;interleukin-11 receptor alpha chain;interleukin-11 receptor subunit alpha APPROVED protein-coding ENSG00000137070 HGNC:5967 02965 600939;614188 REVIEWED 1349516 IL11RB interleukin 11 receptor, beta 3591 HGNC:5968 736550 IL11 interleukin 11 The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 19 19 19 q13.3-q13.4 52916561 52922599 - 55875750 55881831 - 55364382 55370463 - 1580863;6480464;6907045 10026196;10504396;10725745;10948192;11940481;12005542;12032273;12197884;12477932;12486609;12569176;12584029;12629504;12740032;12760902;12819039;1292471;1386338;14734714;15004839;15025215;15121272;15307108;15377473;15381181;15389536;15489334;15504551;15543003;15613426;15614128;15784719;16149067;16189514;16614887;16709613;16759877;16964382;17000646;17295091;17325843;17332920;17702845;17703412;17713553;18204920;1828438;18433382;18490653;18941632;18987331;19121317;19213836;19223152;19251839;19258923;19548631;19647472;19716605;19801577;19913506;20008143;20360315;20503287;20553623;20640990;20712807;21042281;21138838;21155043;21442077;21443102;2145578;21485496;21688123;21741611;21840908;21986128;21995459;22168497;22180059;22205539;22253262;22289923;22393310;22433466;22457856;22523320;22568077;22595646;22614117;22644863;22707562;22727646;23027619;23226926;23307318;23311882;23317891;23340433;23549086;23639700;23813018;23813214;24002086;24036113;24219324;24297922;7499280;7508917;7670098;7867561;8383296;8913282;8940087 3589 A8K3F7;K7ESD5;P20809 ABBA01068101;ABBA01068102;AC020922;AK290572;AK298973;AK315294;AMYH02036462;AY207429;BC012506;BF055151;CH471135;M57765;M81890;NM_000641;NM_001267718;X58377 AAA59132;AAH12506;AAO13493;BAF83261;BAG37700;BAG61067;CAA41266;EAW72371;NP_000632;NP_001254647;P20809 Hs.467304 1650445;2111940;2127864;5024761;5037552;5109283 D19S1142;D19S1168;D1S1431;D8S2279;RH36905;STS-W47396 AGIF;IL-11 adipogenesis inhibitory factor;interleukin-11;oprelvekin APPROVED protein-coding ENSG00000095752 HGNC:5966 00980 147681 REVIEWED 7307971 IL12A-AS1 IL12A antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 q25.33 159631189 159924879 - 159913400 160207092 - 8554872 14702039;18311140;19458352;19525953;20190752;20639880;21399635;21833088;23291587;23377640 101928376 ABBA01058799;ABBA01058800;ABBA01058801;ABBA01058802;AC010370;AC026118;AC112641;AK097161;AMYH02008013;AMYH02008014;AMYH02008015;AMYH02008016;AMYH02008017;HG496249;KF457705;KF510839;KF510840;NR_108088 Hs.565865 ncrna ENSG00000244040 HGNC:49094 VALIDATED 1351047 IL12A interleukin 12A This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008] 3 3 3 q25.33 158128398 158135579 + 159706623 159713806 + 159988836 159996019 + 1580863;4438438;4373570;6480464;6484113;6907045 17056578 10089131;10320373;10352291;10899108;11023671;11087201;11114383;11751963;11940489;12117904;12213961;12242445;12270766;12358856;12370346;12372421;12444143;12472178;12477932;12542496;12558814;12576336;12633940;12672403;12719551;12911539;12944981;1350290;1357073;1358798;14566095;14597672;14629328;14660053;14675394;14718574;14764743;14962816;15051764;15087447;15142381;15170937;15331709;15356557;15361128;15448160;15489234;15643599;15741223;15780175;15810889;15817944;15863393;15937086;15956545;15963597;16230423;16456693;16482511;16544245;16548883;16573560;16702372;1673147;1674604;16754651;16803996;16862120;16885196;16938461;16942485;16961803;17002904;17007011;17062130;17077296;17152005;17225924;17236132;17257312;17304101;17361014;17431094;17444864;17461482;17509455;17553352;17564777;17586317;17627763;17640324;17653830;17671745;17703412;17846855;17881511;17922692;17947455;18050195;18092318;18159163;18190588;18260379;18300344;18311140;18385764;18413324;18417583;18419254;18554158;18566447;18588867;18606709;18628242;18632425;18633131;18671862;18672993;18676680;18717726;18773331;18805825;18972297;18976327;19012493;19013323;19031096;19073967;19074885;19088061;19117745;19118071;19126646;19144161;19148899;19170196;19200845;19230467;19234184;19253530;19258923;19275586;19297619;19299334;19332120;19339796;19376105;19408823;19454678;19458352;19470040;19505916;19508433;19516896;19525953;19543959;19566870;19573080;19594368;19625176;19646340;19692168;19693089;19710469;19773279;19789190;19797506;19798410;19879194;19885559;19913121;19950173;19956842;20012528;20027291;20054003;20060272;20061784;20082482;20190752;20213229;20231901;20237496;20331378;20350312;20372811;20418110;20446002;20452482;20453000;20485444;20503287;20521253;20544370;20551083;20555355;20568250;20581146;20603050;20628086;20634089;20639880;20647273;20673868;20714168;20716621;20818961;20881642;20960273;21044109;21086908;21145044;21177981;21285006;21387004;21397857;21399635;21402701;21513752;21518507;21518761;21606320;21689404;21833088;21878338;22005588;22011063;22038227;2204066;22040814;22133036;22438968;22581790;22614250;22655069;22656398;22691562;22734699;22819329;22940148;23053983;23065210;23154182;23285065;23291587;23297419;23377640;23388728;23619469;23657466;23714111;23717436;23734222;23752604;23755218;23778029;23986795;24012048;24040445;24073214;24121041;24130718;24145357;24158609;24273881;24376289;24782489;7516408;7527811;7605994;7695626;7867080;7903063;8557999;8648753;8700208;8760829;8992506;9108403;9158092;9225992;9334723;934235;9342359;9516412;9603732;9616161;9671213;9712080;9789052 3592 E7ENE1;E9PGR3;O60595;P29459 ABBA01058801;AC010370;AF050083;AF101062;AF180562;AF404773;AMYH02008013;AW472810;BC035571;BC104982;BC104984;BG702253;CH471052;CS498405;HH821934;JA104599;M65271;M65291;NG_033022;NM_000882;XM_005247435 AAA35694;AAA59937;AAC05211;AAC05212;AAD16432;AAD56385;AAI04983;AAI04985;AAK84425;CAM82732;CBX32667;CCA63969;EAW78656;EAW78657;EAW78658;NP_000873;P29459;XP_005247492 Hs.673 1743091;1791350;2129046;2180714;2217480 GDB:252062;IL12A_3062;PMC105864P1;RH17729;SHGC-12751 CLMF;IL-12A;NFSK;NKSF1;P35 CLMF p35;IL-12 subunit p35;IL-12, subunit p35;IL35 subunit;NF cell stimulatory factor chain 1;NK cell stimulatory factor chain 1;OTTHUMP00000213703;OTTHUMP00000213704;OTTHUMP00000213705;cytotoxic lymphocyte maturation factor 1, p35;cytotoxic lymphocyte maturation factor 35 kDa subunit;interleukin 12, p35;interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35);interleukin-12 alpha chain;interleukin-12 subunit alpha;natural killer cell stimulatory factor 1, 35 kD subunit APPROVED protein-coding ENSG00000168811 HGNC:5969 01193 161560 REVIEWED 1353629 IL12B interleukin 12B This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008] 5 5 5 q31.1-q33.1 154772647 154788337 - 158741791 158757481 - 159314783 159330473 - 1600042;1600043;1580863;4145421;4145430;4831840;4888529;4889581;4888507;4145426;4145423;4145428;4145438;6480464;6484113;6907045;7240710;7829774;8699517;8554872 10848872;12084045;12241719;15322986;15776385;16114559;16210052;16389596;18598692;19233473;19279357;20176803;9854038 10207176;10320373;10352291;10419056;10890924;10899108;11023671;11087201;11110796;11114383;11196715;11197695;11751963;11753820;11813133;11820460;11940489;11972887;11978670;12023369;12065887;12086971;12100467;12117904;12117918;12202149;12207325;12270766;12297341;12370346;12413772;12421946;12424624;12424627;12472178;12477932;12542496;12672403;12719551;12857749;12876411;12914676;1358798;14551880;14597672;14675396;14679201;14746806;14764743;14962816;14976188;15004750;15007350;15057902;15102082;15114670;15265908;15285014;15295696;15331709;15356557;15448160;15464247;15482860;15483662;15489334;15523691;15603869;15620465;15644581;15837792;15858599;15869883;15871664;15937086;15941730;15988104;15993716;16005098;16039994;16100774;16216674;16482511;16514412;16574246;16600026;16637265;16681592;16712658;1673147;1674604;16750991;16751425;16772281;16789008;16942485;16948912;16966828;17077296;17148969;17152005;17172248;17207965;17236132;17327408;17388919;17392024;17403771;17431094;17445208;17477815;17504509;17509455;17513774;17554261;17564777;17567674;17579859;17587057;17644387;17653830;17703412;17846855;17881511;17888176;17889143;17901940;17932439;17945537;17993580;17994425;18034172;18048021;18075513;18082575;18086266;18092318;18163209;18190588;18192685;18219280;18240960;18300039;18319400;18341612;18367309;18369459;18383521;18389618;18413324;18422730;18438406;18449199;18485489;18497679;18512797;18522869;18557702;18563338;18587394;18588591;18606709;18619507;18628242;18631256;18632587;18633131;18675459;18676680;18680750;18703108;18717726;18800148;18821674;18827961;18834321;19012493;19013323;19035472;19088061;19118071;19134014;19169254;19169255;19170196;19174780;19185507;19210338;19234184;19247692;19249008;19258635;19258923;19262574;19264456;19274925;19328947;19342681;19419334;19422935;19435421;19487916;19495883;19505916;19516896;19525409;19554267;19573080;19625176;19646340;19683555;19692168;19705136;19733878;19760754;19773279;19773451;19782084;19819209;19832040;19838195;19860911;19861958;19913121;19956104;20003322;20012528;20014019;20016509;20027321;20054003;20060272;20061784;20105444;20145925;20217072;20236616;20237496;20331378;20349123;20350312;20371868;20372811;20387064;20395963;20399512;20416077;20452482;20453000;20483637;20485444;20503287;20521253;20525402;20530519;20544370;20551083;20568250;20570966;20621951;20628086;20653817;20653995;20658240;20673868;2070420;20705102;20711808;20714168;20716621;20802378;20811626;20875078;20875477;20953186;20953188;20953190;21055733;21072187;21102463;21145044;21196650;21198744;21208785;21278068;21297633;21310195;21321105;21339808;21351215;21397857;21443923;21470215;21513752;21567173;21623733;21637332;21641076;21689404;21733366;21743469;21747388;21753150;21796650;21819616;21833088;21878338;21972680;22005588;22011063;2204066;22045842;22070668;22144535;22190364;22194214;22296201;22327783;22383962;22384203;22479607;22503230;22581790;22614250;22621617;22655069;22656398;22702905;22739501;22740240;22819329;22863216;22897389;22930279;22940148;23006423;23028907;23053983;23065198;23065210;23071313;23093722;23099807;23103228;23128233;23137633;23154183;23240095;23285955;23297015;23297419;23376980;23403235;23429356;23441821;23527200;23573954;23575353;23578145;23600862;23621408;23665963;23679818;23717436;23722323;23734222;23755218;23817431;23830516;23844553;23901045;23955419;23991654;24051922;24073214;24127073;24139871;24140476;24158609;24161121;24654313;24782489;24808365;7527439;7527811;7565674;7695626;7698768;7836910;7843232;7867080;7903063;8551218;8648753;8760829;8799158;8992506;9108403;9158092;9225992;9516412;9603732;9603733;9671213;9700192;9712080;9789052 3593 P29460;Q8N0X8 ABBA01044239;AC011418;AF180563;AF512686;AMYH02012586;AY008847;AY046592;AY046593;AY064126;BC067498;BC067499;BC067500;BC067501;BC067502;BC074723;CH471062;EF173865;JA104591;M65272;M65290;NG_009618;NM_002187;U89323 AAA35695;AAA59938;AAD56386;AAG32620;AAH67498;AAH67499;AAH67500;AAH67501;AAH67502;AAH74723;AAL05890;AAL05891;AAM34792;ABM53138;ADQ32054;CCA63965;EAW61576;NP_002178;P29460 Hs.674 1298302;1794576;1796074;2116144;2157747;2170805 D5S1480;G10637;IL12B_146;PMC321570P1;RH17728;SGC35786 CLMF;CLMF2;IL-12B;IMD28;IMD29;NKSF;NKSF2 CLMF p40;IL-12 subunit p40;IL12, subunit p40;NK cell stimulatory factor chain 2;OTTHUMP00000160820;cytotoxic lymphocyte maturation factor 40 kDa subunit;interleukin 12, p40;interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2;interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40);interleukin-12 beta chain;interleukin-12 subunit beta;natural killer cell stimulatory factor, 40 kD subunit APPROVED protein-coding ENSG00000113302 HGNC:5970 01194 161561;209950;600807;614890 REVIEWED 1349194 IL12RB1 interleukin 12 receptor, beta 1 The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 19 19 19 p13.1 18072103 18099423 - 18170371 18197806 - 18059561 18086996 - 1580863;6480464;6484113;6907045;7240710;8554872 10415122;11114383;11424023;11857344;12020266;12023369;12421946;12477932;12496448;12594833;12596048;12671732;12719941;12743658;14635048;15004750;15063762;15114670;15178580;15243935;15941730;15993716;16084898;16088278;16159888;17152005;17222831;17236132;17284226;17392024;17403771;17703412;18478121;18493823;18591412;18940359;19074885;19240061;19247692;19249008;19258923;19460324;19573080;19773279;19773451;19817957;19839503;19913121;20060272;20171917;20237496;20345976;20350312;20399512;20424473;20452482;20453000;20503287;20525402;20568250;20628086;20639880;20673868;20716621;20811626;20855390;21689850;21988832;22504412;22740240;23024274;23217179;23541324;23557799;23662788;23864330;24114017;7527811;7843232;7911493;8125298;8943050;8958915;9038232;9284929;9469420;9603733;9637763 3594 M0QX06;M0R382;P42701;X6RGM1 ABBA01051245;ABBA01051246;AC020904;AI637915;AJ297688;AJ297689;AJ297690;AJ297691;AJ297692;AJ297693;AJ297694;AJ297695;AJ297696;AJ297697;AJ297698;AJ297699;AJ297700;AJ297701;AK225919;AK290423;AMYH02035720;AMYH02035721;AMYH02035722;AY771996;BC029121;BC137404;BC137406;BX647221;CH471106;DA008204;NG_007366;NM_001290023;NM_001290024;NM_005535;NM_153701;U03187;XM_005259893;XM_006722741 AAA21340;AAH29121;AAI37405;AAI37407;AAV28734;ACE86947;ACE86994;ACE87635;ACE87683;ADZ16106;BAF83112;CAC10446;EAW84653;EAW84654;EAW84655;EAW84656;NP_001276952;NP_001276953;NP_005526;NP_714912;P42701;XP_005259950;XP_006722804 Hs.567294 1787686;2151523;5015619;5015861;5109281;7185938 D10S16;D11S3114;D1S1425;RH66781;SHGC-156161 CD212;IL-12R-BETA1;IL12RB;IMD30;MGC34454 IL-12 receptor beta component;IL-12 receptor subunit beta-1;IL-12R subunit beta-1;IL-12R-beta-1;IL-12RB1;cluster of differentiation 212;interleukin-12 receptor beta-1 chain;interleukin-12 receptor subunit beta-1 APPROVED protein-coding ENSG00000096996 HGNC:5971 03363 209950;601604;614891 REVIEWED 1346577 IL12RB2 interleukin 12 receptor, beta 2 The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012] 1 1 1 p31.3-p31.2 66062815 66152324 + 67773047 67862583 + 67307364 67396900 + 1580863;6480464;6484113;6907045 10198225;10415122;10600539;10663559;11114383;11306945;11438525;11441083;11940489;12477932;12719941;12743658;12768436;12804004;14559241;15004750;15140029;15489334;15901746;15976343;16344560;17152005;17236132;17602269;17622942;17703412;18353079;18474725;18715339;18771340;18927311;19258923;19458352;19573080;19604093;19720917;19773279;19913121;20060272;20237496;20350312;20424473;20452482;20503287;20525402;20568250;20622878;20622879;20628086;20639880;20673868;20716621;21285166;21399635;22076442;22378604;22412388;22509293;23009887;23128233;23152861;23677568;23911393;7911493;8401589;8943050;9038232;9120388;9284929;9498755;9605872;9890938 3595 B4DGA4;H0Y5V0;Q99665 ABBA01074518;ABBA01074519;AF349574;AK294494;AK300020;AK310837;AK316525;AL358512;AL389925;AMYH02001201;AMYH02001202;AMYH02001203;AMYH02001204;AMYH02001205;AY640177;BC104772;BC104774;BC143248;BC143249;BC143250;BC143252;CH471059;DA223630;DB126833;NG_032977;NM_001258214;NM_001258215;NM_001258216;NM_001559;NR_047583;NR_047584;U64198;XM_005270825;XM_005270827;XM_005270828;XM_006710617 AAB36675;AAI04773;AAI04775;AAI43250;AAT45456;BAG57715;BAG61833;BAH14896;EAX06499;EAX06500;NP_001245143;NP_001245144;NP_001245145;NP_001550;Q99665;XP_005270882;XP_005270884;XP_005270885;XP_006710680 Hs.479347 1651701;1766239;1781628 SHGC-149599;SHGC-154067;SHGC-74960 RP11-102M16.1 IL-12 receptor beta 2;IL-12 receptor subunit beta-2;IL-12R subunit beta-2;IL-12R-beta-2;IL-12RB2;OTTHUMP00000010662;interleukin-12 receptor beta-2 chain;interleukin-12 receptor subunit beta-2 APPROVED protein-coding ENSG00000081985 HGNC:5972 03383 601642 REVIEWED 1347132 IL13RA1 interleukin 13 receptor, alpha 1 The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq, Jul 2008] X X X q24 118316317 118383340 + 117861514 117928496 + 118727551 118794533 + 1580863;4892647;4892654;4146242;4892655;4892611;4145601;4892610;4892650;4892639;4892646;6480464;6484113;6907045;8549525;8549502;8549507 10686479;11714828;14527737;17006604;17182591;17392323;18480254;18849614;19796199;20383033;20671265;20808962;22045834 10409622;11003391;11058569;11278629;11939409;12207328;12223527;12354755;12477932;12522691;12594065;12935900;15489334;15870068;16918506;17703412;18029348;18243101;19258923;19322201;19586918;19654941;19913121;20237496;20503287;20628086;21071541;21097505;21139048;21236478;21294892;21425907;21890473;21913997;21988832;22098734;22376040;22441356;23000965;23169588;23965966;7569905;8910586;9013879;9083087 3597 P78552 AB031393;AB209849;ABBA01036754;ABBA01036755;ABBA01036756;ABBA01036757;ABBA01036758;ABBA01036759;ABBA01036760;ABBA01036761;ABBA01036762;AK123515;AK296958;AK313467;AL391280;AMYH02040319;AMYH02040320;BC009960;BC015768;CH471161;NG_012841;NM_001560;U81379;U81380;XM_005262411;Y09328;Y10659 AAD00510;AAD00511;AAH09960;AAH15768;ABM84380;ABM87295;BAC85635;BAD93086;BAG36253;BAG59502;CAA70508;CAA71669;EAW89893;EAW89894;NP_001551;P78552;XP_005262468 Hs.496646 1689304;1698794;1740111;1797732;2154122;2161980;2172875;2172877;2183663;5017433;5019070 A005A40;DXS7580;G20227;G44334;IL13RA1_2422;RH102960;RH17875;RH47729;RH93401;SHGC-34461;STS-T76997 CD213A1;CT19;IL-13R-alpha-1;IL-13RA1;IL-13Ra;NR4 CD213a1 antigen;IL-13 receptor subunit alpha-1;IL-13R subunit alpha-1;IL13 receptor alpha-1 chain;OTTHUMP00000023890;bB128O4.2.1 (interleukin 13 receptor, alpha 1);cancer/testis antigen 19;interleukin-13 receptor subunit alpha-1 APPROVED protein-coding ENSG00000131724 HGNC:5974 02125 300119 REVIEWED 1347847 IL13RA2 interleukin 13 receptor, alpha 2 The protein encoded by this gene is closely related to Il13RA1, a subuint of the interleukin 13 receptor complex. This protein binds IL13 with high affinity, but lacks cytoplasmic domain, and does not appear to function as a signal mediator. It is reported to play a role in the internalization of IL13. [provided by RefSeq, Jul 2008] X X X q23 114673713 114687382 - 114238538 114252207 - 115003975 115017644 - 1580863;4892612;4146242;2298568;4892649;4159171;4892646;4890021;4145478;6480464;6484113;6907045;8549498;8549521;8549557;8549563;8549514;8549556 11748276;15161635;17088137;17182591;17438063;17885690;18362439;18802068;19065664;19951958;20383033;20522789;20971924;21462799 11003391;11352909;11786536;12231526;12445201;12477932;12485861;12816724;15489334;15772651;15870068;16327802;16751396;16902988;16981293;17560640;17703412;17804706;17917751;18024961;18028464;18172271;18307523;18430795;18559603;18564628;18677476;18694590;19010904;19149920;19258923;19491224;19654941;19887609;20007572;20014020;20068108;20237496;20452482;20503287;20543112;20673868;20729386;20805641;21071541;21139048;21477288;21596889;21622864;21858811;21913997;22045834;22407982;22505647;23376457;23421960;24204956;24879793;8663118;9083087;9130652;9177784;9725226 3598 Q14627 ABBA01053631;ABBA01053632;ABBA01053633;AK291957;AK308523;AK309444;AL121878;AMYH02040271;AY656702;BC020739;BC033705;CH471120;GQ494004;NG_012514;NM_000640;U70981;X95302;Y08768 AAB17170;AAH20739;AAH33705;AAT49099;ABM85056;ABW03720;ACX47590;BAF84646;CAA64617;CAA70021;EAX02621;EAX02622;NP_000631;Q14627 Hs.336046 1779109;2119321 DXS6794;DXS7347 CD213A2;CT19;IL-13R;IL13BP IL-13 receptor subunit alpha-2;IL-13R subunit alpha-2;IL-13R-alpha-2;IL-13RA2;OTTHUMP00000023871;cancer/testis antigen 19;interleukin 13 binding protein;interleukin 13 receptor alpha 2 chain;interleukin-13 receptor subunit alpha-2;interleukin-13-binding protein APPROVED protein-coding ENSG00000123496 HGNC:5975 02132 300130 REVIEWED 69008 IL13 interleukin 13 This gene encodes an immunoregulatory cytokine produced primarily by activated Th2 cells. This cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, IL3, IL5, IL4, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL4. [provided by RefSeq, Jul 2008] 5 5 5 q31 128123995 128126931 + 131993865 131996801 + 132658173 132661109 + 1580863;2301685;2301686;2290344;2317669;2317670;2290347;4146242;4765128;4145600;4145596;4763761;4145453;4145474;4145777;4206706;4220633;4145506;4145512;4888530;4889497;4145639;4145664;4145714;4145737;4145775;4146241;4312589;4321828;4145627;4145765;4888529;4145665;4145776;4145508;4159171;4145601;4145641;4145647;4145650;4145454;2307110;1581860;4145774;4145779;4145649;4145652;4761594;4145526;4145668;4145500;4759835;4145466;4145534;2314537;4145528;4145637;4145496;4145767;4782826;4763153;4145593;4145654;4892639;5684368;5684365;5684366;5684375;5684363;5684370;6480464;5684362;5684372;5684364;5684367;5684369;5684371;6907045;7240710;5128548;5131286;8549606;8549607;8549502;8549516;8549530;8549583;8549615;8549551;8549517;8549528;8549539;8549555;8549587;7829719;8549523;8549582;8549501;8549536;8549518;8549579;8549624;8549509;8549540;8549600;8549541;8549531;8549561;8549643;8549629;8549591;8549512;8549515;8549557;8549595;4145478;8549529;8549533;8549644;8549647;4145626;8549563;8549503;8549537;8549544;8549597;7204480;8549593;8549505;8549552;8549589;8549626;4145432;8554872 10608794;10674721;10679115;10857756;10887320;10903803;11067861;11399514;11481267;11588017;11678850;11758895;11860705;12051401;12091879;12574374;12604708;12669034;12739821;12808442;12920362;12928861;12947342;14582911;14633438;14984938;15236177;15308043;15315330;15461830;15463872;15483090;15564778;15635619;15820084;15902684;16024972;16120094;16387607;16393274;16544260;16672002;16698589;16832637;17006604;17088137;17182591;17303794;17313488;17331844;17392164;17404281;17429054;17438063;17545514;17665443;17902182;18222984;18250447;18250480;18258919;18312531;18328894;18341619;18354382;18410415;18758789;18802068;18924210;18989750;19006098;19154443;19178408;19220774;19254288;19554022;19564030;19575932;19695190;19748999;19752036;19796199;19799786;19951958;19995275;20003352;20100461;20176803;20198887;20358028;20416219;20484924;20543112;20696593;20716936;20811626;20819635;20861649;20945403;21159497;21235536;21349879;21425123;21573182;21677024;21913997;21958311;21985368;22023794;22031307;22038918;22045834;22135852;22805723;22852128;23028794;23171465;23317483;23617596;23680073;23815671;23969075;23996716;7523520;8520776;9034992;9191598;9916735 10227975;10623799;10651852;10699178;10725748;10753117;11003391;11149986;11197307;11278629;11396683;11709756;11786536;11825773;11830476;11940068;11980568;12063528;12067309;12089333;12089714;12097410;12145428;12152987;12163193;12165514;12189139;12207328;12223527;12370393;12370400;12377947;12396617;12413765;12424628;12441140;12477932;12525574;12548511;12594065;12654630;12682264;12704784;12748293;12748907;12794003;12884288;12897746;12920029;12935900;12944981;1408833;14510917;14512310;14551608;14561191;14564352;14634100;14669230;14734771;14756548;14764428;14983029;15004182;15005726;15007352;15007355;15014952;15146247;15155567;15155645;15163701;15163899;15187156;15191916;15229217;15356556;15356573;15361241;15388001;15474066;15488706;15528258;15596681;15634905;15642470;15660293;15661077;15687724;15699166;15711639;15713213;15728267;15731584;15845862;15869882;15870068;15879126;15904474;15919378;15951665;15969687;16001979;16024651;16034134;16046318;16101942;16133987;16166103;16195814;16200868;16210662;16236836;16272823;16275384;16303333;16315031;16327802;16375755;16387595;16388492;16403098;16428771;16461126;16493441;16522370;16681592;16702372;16750991;16751012;16849505;16867043;16914241;16918506;16951338;16961803;16987060;17001290;17016624;17082655;17090525;17091279;17097743;17142763;17183946;17201240;17209513;17235327;17251453;17264150;17284225;17287067;17291854;17303923;17313976;17346294;17347445;17355643;17388919;17418380;17451413;17517104;17543424;17548690;17560640;17561245;17563406;17597813;17603012;17615386;17623648;17644317;17703412;17717322;17868461;17883727;17911623;18006935;18028994;18037162;18056382;18073124;18186920;18204280;18243101;18243827;18251702;18263811;18273035;18296657;18296848;18348727;18385759;18395486;18403443;18410779;18417506;18418228;18441092;18441098;18497474;18506597;18545091;18551035;18625055;18633131;18674658;18676680;18676870;18688040;18691306;18699941;18712166;18815020;18818748;18849614;18927306;18931077;18931892;18941246;18949100;18974840;19005922;19011907;19019335;19074885;19109239;19116009;19122650;19131452;19131662;19141347;19169254;19170196;19190772;19192232;19222422;19225544;19231232;19247692;19251840;19254294;19258923;19262574;19263529;19264973;19326508;19332998;19333920;19417211;19420105;19470259;19479237;19487697;19505916;19507063;19515749;19527514;19536153;19555572;19559392;19573080;19578876;19586918;19602238;19625176;19635933;19654941;19659863;19674346;19692168;19706316;19706623;19726720;19729601;19739097;19759281;19772762;19773279;19773451;19789190;19840389;19862939;19910508;19913121;19933216;19948975;19968504;20051514;20081054;20085599;20093796;20107485;20140262;20159242;20177070;20194818;20207250;20208004;20219689;20224668;20236697;20237496;20299965;20306654;20332709;20368097;20394509;20395963;20403202;20403914;20406594;20418110;20418295;20444155;20453000;20485362;20503287;20530519;20536507;20539013;20568250;20572918;20589076;20603037;20628086;20644561;20652946;20703737;20714168;20800603;20802378;20860503;20861864;20942272;20975284;21061265;21067601;21071541;21076368;21097505;21191414;21191416;21198753;21236478;21239604;21275604;21289305;21325281;21425907;21426411;21430433;21478113;21489615;21576506;21613309;21616524;21762457;21920770;22013915;22039015;22039304;22053598;22075330;22087298;22092872;22123380;22154382;22166239;22170601;22204768;22222605;22226971;22229804;22236719;22286212;22287592;22317767;22325047;22355542;22370092;22376040;22407982;22432974;22441356;22471460;22506826;22521249;22534877;22573806;22574126;22661199;22686311;22698804;22741617;22749024;22750299;22846750;22952702;22981205;23042114;23045480;23070918;23108822;23128233;23184931;23222300;23223131;23246181;23249391;23300643;23333326;23351078;23376457;23382814;23383108;23395224;23437086;23510983;23521898;23545317;23549736;23614810;23663500;23666277;23713409;23754348;23810766;23817569;23841068;23865080;23874547;23886662;23893513;24001799;24053708;24105413;24241537;24280725;24286397;24447082;24447084;24808368;24879793;7521694;7530359;7721105;8096327;8097324;8099936;8605348;8609418;9139718;9177784;9226003;9856949;9856950 3596 P35225;Q4VB53 ABBA01068803;AC004039;AF043334;AF172149;AF172150;AF193838;AF193839;AF193840;AF377331;AF416600;AMYH02012219;AY008331;AY008332;BC096138;BC096139;BC096140;BC096141;CH471062;HI573912;L06801;L13029;L42079;L42080;NG_012090;NM_002188;U10307;U31120;X69079 AAA36107;AAA83738;AAB01681;AAC03535;AAH96138;AAH96139;AAH96140;AAH96141;AAK53823;CAA48823;CAA48824;CBX47445;EAW62324;EAW62325;EAW62326;EAW62327;NP_002179;P35225 Hs.845 1298161;1339467;1663743;1794748;1796076;1798964;1808592;1817460;1817592;1817850;1819560;2000478;2000480;2000482;2000484;2000486;2000488;2000490;2000492;2000494;2000496;2000498;2000500;2000502;2000504;2000506;2000508;2000510;2000512;2000514;2000516;2000518;2000520;2000522;2096304;2096306;2096308;2096310 D4S1651;D4S2394;D5S2410;ECD00324;ECD05278;ECD09780;ECD09846;ECD09979;ECD10847;IL13_148;PMC356970P3;REN71151;REN71152;REN71153;REN71154;REN71155;REN71156;REN71157;REN71158;REN71159;REN71160;REN71161;REN71162;REN71163;REN71164;REN71165;REN71166;REN71167;REN71168;REN71169;REN71170;REN71171;REN71172;REN71173;stSG601426;stSG601427;stSG601428;stSG601429 ALRH;BHR1;IL-13;MGC116786;MGC116788;MGC116789;P600 Bronchial hyperresponsiveness-1 (bronchial asthma);OTTHUMP00000066048;allergic rhinitis;interleukin-13 APPROVED protein-coding ENSG00000169194 HGNC:5973 00981 147683;600807;607154 REVIEWED 737535 IL15 interleukin 15 The protein encoded by this gene is a cytokine that regulates T and natural killer cell activation and proliferation. This cytokine and interleukine 2 share many biological activities. They are found to bind common hematopoietin receptor subunits, and may compete for the same receptor, and thus negatively regulate each other's activity. The number of CD8+ memory cells is shown to be controlled by a balance between this cytokine and IL2. This cytokine induces the activation of JAK kinases, as well as the phosphorylation and activation of transcription activators STAT3, STAT5, and STAT6. Studies of the mouse counterpart suggested that this cytokine may increase the expression of apoptosis inhibitor BCL2L1/BCL-x(L), possibly through the transcription activation activity of STAT6, and thus prevent apoptosis. Alternatively spliced transcript variants of this gene have been reported. [provided by RefSeq, Feb 2011] 4 4 4 q31 139888493 139985377 + 142557749 142655140 + 141636596 141733987 + 1580863;1626609;1626612;1626618;1626616;1626610;2313573;2313574;2313575;2313577;2313578;4892670;4892668;4892672;4892671;4888530;4943853;5000760;4990464;4990461;4990462;4990458;4987456;4994196;5000757;4974390;4981337;4984421;5000755;5000758;5000756;5024938;4996474;5000754;4996471;4996472;5024920;5000761;6480464;6907045;5128683;5147438 10823416;11160248;11485899;11742275;11832994;12572774;15072171;15131572;15843549;16098919;16109314;16321364;16367949;16629787;16750998;16893395;17014667;17611121;17670937;17784951;17911627;18390740;18394133;18697873;19133918;19234203;20003352;20028198;20188418;20212069;20332642;20335267;20618701;21062445;21098221;21235417;21309737;8942753;9826341 10388525;10784451;10851076;10869346;11122241;11134140;11134366;11168804;11287118;11369758;11581322;11680634;11702064;11746271;11751999;11807773;11814312;11830476;11876762;11919076;11972069;12089333;12089714;12114302;12115611;12147628;12165497;12237122;12297341;12379638;12391205;12393488;12401478;12421959;12453470;12477932;12542496;12571184;12598649;12623850;12734346;12747456;12757260;12759422;12805064;12826231;12847234;12857602;12865812;12960322;14499665;14581351;14607929;14607946;14617758;14648805;14662842;14684414;14702039;14718574;14762166;14967307;14982947;14984938;15034035;15039446;15225634;15328153;15347678;15353479;15358647;15489334;15531573;15536127;15557159;15563472;15598425;15710591;15713701;15770395;15778359;15943034;15976176;15993713;16024007;16060678;16136475;16148110;16273100;16284400;16333313;16427155;16474399;16482511;16507118;16606671;16670327;16772281;16791279;17001647;17077296;17110377;17142786;17158609;17324400;17363780;17431094;17537415;17554368;17616399;17635814;17655329;17703412;17938255;17947730;17964972;17982063;17986095;18086532;18275895;18280748;18295891;18311795;18348982;18365236;18419254;18424079;18431516;18482208;18493613;18493981;18505820;18509087;18514540;18523245;18524812;18580966;18583567;18633131;18656487;18676680;18706446;18782269;18818748;18840707;18981132;19013323;19019335;19047106;19088135;19170196;19176441;19188921;19233474;19237603;19240061;19247692;19258923;19325034;19406127;19414768;19414770;19414780;19449444;19505916;19527514;19546878;19570824;19573080;19592095;19593212;19625176;19657406;19692168;19696432;19703339;19710458;19756346;19773279;19796965;19821081;19835475;19913121;19949092;20007590;20012528;20043070;20083555;20140262;20142427;20153259;20166880;20190192;20237496;20331472;20381491;20414345;20430958;20444155;20453000;20483740;20503287;20538758;20560915;20568250;20622171;20628086;20631381;20670353;20671116;20732850;20736143;20956026;21048031;21049047;21074481;21132303;21169670;21190865;21204897;21242188;21300928;21307608;21334074;21474552;21487524;21539877;21562158;21572025;21715685;21723324;21724805;21765616;21769475;21779162;21788945;21813181;21832049;21852331;21911607;21925225;21943235;21945396;21973023;21984699;21988722;21988832;22055728;22084435;22242124;22261234;22363690;22440823;22447977;22467658;22471460;22496150;22510877;22535664;22537815;22563505;22565311;22785229;23058476;23072822;23074221;23104097;23153537;23157547;23160470;23214284;23214303;23325887;23401701;23417200;23437070;23577098;23637340;23649624;23649772;23700042;23773307;23791986;23873932;23904478;23904514;23950892;23996684;24086722;24184554;24198185;24361466;24489097;24657713;24666229;24670802;24700781;24912180;25080789;7568001;7641685;7759105;8026467;8178155;8568232;8668345;8932977;8977197;9176231;9405632 3600 P40933 AA897685;ABBA01069990;AC096774;AC118480;AF031167;AF176907;AK122993;AK290619;AMYH02010220;AMYH02010221;AY720442;BC018149;BC100961;BC100962;BC100963;BX116580;CA443264;CH471056;CR541980;CR542007;CS112464;CS163144;CS401671;CX761071;CX785233;GM040149;HC087890;JA143001;KF457824;NG_029605;NM_000585;NM_172175;NR_037840;U14407;X91233;X94222;X94223;Z38000 AAA21551;AAB97518;AAH18149;AAI00962;AAI00963;AAI00964;AAU21241;ABM84635;ABM84636;ABM92165;BAF83308;BAG53839;CAA62616;CAA63913;CAA63914;CAA86100;CAG46777;CAG46804;CAJ13397;CAJ32191;CAL40354;CAS97649;CBI67687;CCA64045;EAX05083;EAX05084;EAX05085;EAX05086;EAX05087;NP_000576;NP_751915;P40933 Hs.168132;Hs.602618 1665548;1699586;2190773 D4S3176;IL15;RH103394 IL-15;MGC9721 OTTHUMP00000164616;OTTHUMP00000164617;OTTHUMP00000218093;OTTHUMP00000228804;OTTHUMP00000228805;interleukin-15 APPROVED protein-coding ENSG00000164136 HGNC:5977 02776 600554 REVIEWED 1349175 IL15RB interleukin 15 receptor, beta 3602 HGNC:5979 1313009 IL15RA interleukin 15 receptor, alpha This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010] 10 10 10 p15.1 5924720 5950524 - 5994334 6020150 - 5952371 5978578 - 1580863;5001122;4994196;5144060;5000755;6480464;6907045 17611121;19747902;21085492;21098221 10480910;11064452;11160322;11418623;11777964;12045244;12114302;12115611;12477932;15039446;15164054;15263076;15265897;15489334;15531573;16060678;16284400;16377614;16385451;16757567;17121316;17363735;17655329;17703412;17948125;18287585;18483276;18505820;18514540;18633131;18656487;18676680;19170196;19240061;19258923;19309557;19406127;19505916;19625176;19692168;19696432;19821081;20237496;20424473;20453000;20503287;20671116;21097393;21304101;21689944;21715685;21813181;21988832;22049515;22447977;22496150;22510877;22640659;23039249;23072822;23074221;23128233;23417200;23508266;23618691;23649624;23950892;23996684;24019554;24696261;24912180;7641685;8104057;8530383;8619474;9110174 3601 E7ETI1;E9PQ64;G8CVM3;H0Y4R3;H0Y6E8;H0YD11;Q13261;Q5JVA3 AA847313;ABBA01034769;AF035279;AF283296;AK304211;AL137186;AMYH02022051;AY316538;BC065506;BC074726;BC107777;BC121140;BC121141;BM546106;CH471072;CR457064;CR542023;DC298692;HQ401283;JA187938;JA187940;JX987304;JX987305;JX987306;JX987307;JX987308;JX987309;JX987310;JX987311;NM_001243539;NM_001256765;NM_002189;NM_172200;NR_046362;U31628;XM_006717441;XM_006717442;XM_006717443;XM_006717444;XM_006717445;XM_006717446;XM_006717447 AAB88175;AAC50312;AAH65506;AAH74726;AAI07778;AAI21141;AAI21142;AAP69528;AEP26933;AFY11387;AFY11388;AFY11389;AFY11390;AFY11391;AFY11392;AFY11393;AFY11394;BAG65084;CAG33345;CAG46820;CCA64145;CCA64146;EAW86415;EAW86416;EAW86417;EAW86418;EAW86419;EAW86420;EAW86421;EAW86422;NP_001230468;NP_001243694;NP_002180;NP_751950;Q13261;XP_006717504;XP_006717505;XP_006717506;XP_006717507;XP_006717508;XP_006717509;XP_006717510 Hs.445124 1667755;1673693;1796078;1858417 IL15RA_751;RH69914;STS-AA028956;STS-U31628 CD215;MGC104179 OTTHUMP00000019021;OTTHUMP00000019023;OTTHUMP00000019024;OTTHUMP00000019026;OTTHUMP00000228697;OTTHUMP00000228698;OTTHUMP00000228699;OTTHUMP00000228700;OTTHUMP00000228701;OTTHUMP00000228702;OTTHUMP00000228703;interleukin 15 receptor alpha isoform EM2;interleukin 15 receptor alpha isoform IC2;interleukin 15 receptor alpha isoform IC3;interleukin 15 receptor alpha isoform IC4;interleukin 15 receptor alpha isoform IC5;interleukin 15 receptor alpha isoform IC6;interleukin 15 receptor alpha isoform IC7;interleukin 15 receptor alpha isoform IC8;interleukin-15 receptor subunit alpha APPROVED protein-coding ENSG00000134470 HGNC:5978 03045 601070 REVIEWED 1351288 IL16 interleukin 16 The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 15 15 15 q26.3 58426593 58543082 + 81474941 81605104 + 81182600 81312763 + 1580863;5024923;4145665;5024931;5024932;5024925;2293182;5024928;5024930;5024933;5024934;5024937;5024938;5024939;5024941;1354526;5024935;5024940;5024924;6480464;8554872 10585533;12872394;14633438;14698845;15784111;16387589;16734115;17221335;17431659;17641011;17983426;18254318;18264096;19295235;19641139;20079227;20618701;21267454 10343113;10438516;10477592;10479680;11032842;11714796;11937573;11999883;12191564;12450396;12477932;12620798;12923170;14657881;14702039;14705216;14718574;14734747;14755377;15175077;15187155;15253385;15342983;15383572;15560757;15619436;15682385;15820794;15886011;16144798;16177102;16178875;16189514;16271292;16344560;16375755;16447204;16455991;17303923;17537415;17551575;17576577;17577790;17703412;18006695;18029348;18097041;18394967;18446062;1851800;18633131;18676870;18768901;18821565;19060904;19066394;19073878;19074885;19232499;19240061;19258923;19298795;19460752;19476022;19758567;19773451;19789190;19906316;19913121;20237496;20503287;20529140;20578037;20628086;20662556;20800603;20802378;20811626;20878214;21036918;21071540;21094786;21214401;21267712;21447961;21703255;22019522;22080865;22745469;22923025;22939228;23020666;23241166;23252864;23455924;23881440;23894370;24138069;24175812;24200060;24288444;24380743;24694201;24816145;6729885;7615501;7910967;8125298;8599832;8609984;8977168;9144227;9271307;9422780;9699630;9743378;9990060 3603 H0YKB7;H0YLB1;H0YLH9;H0YLL1;H3BN12;H3BT15;H3BVH5;Q14005;Q9UME6 ABBA01060636;ABBA01060637;AC036196;AC103858;AF053412;AF077011;AF121105;AK124565;AK124725;AK126222;AK128740;AK131530;AK222512;AK303659;AK308440;AL109669;AL109774;AL833554;AMYH02030894;AMYH02030895;AMYH02030896;AY324389;AY497901;BC040272;BC050362;BC064911;BC136660;CH471136;CR749286;DB141707;FJ032370;M90391;NG_029933;NM_001172128;NM_004513;NM_172217;S81601;U82972;XM_005254342;XM_005254343;XM_005254344;XM_005254345;XM_005254346;XR_429452 AAB36371;AAB58261;AAC12732;AAD04636;AAD15990;AAH40272;AAH50362;AAI36661;AAQ86961;AAR89904;ACI00236;BAC85888;BAC86494;BAD18668;BAD96232;BAG54724;BAH14009;CAH18141;EAW99098;EAW99099;EAW99100;EAW99101;NP_001165599;NP_004504;NP_757366;Q14005;XP_005254399;XP_005254400;XP_005254401;XP_005254402;XP_005254403 Hs.459095 1704594;1721661;1792616;1796080;1855360;2128117;2136917;2142404;2156565;2180236 G59841;IL16_753;PMC15509P1;RH120871;RH69578;SHGC-12749;SHGC-83106;STS-H57532;STS-W15415;WI-11334 FLJ16806;FLJ42735;FLJ44234;HsT19289;IL-16;LCF;NIL16;PRIL16;prIL-16 OTTHUMP00000185571;OTTHUMP00000190849;OTTHUMP00000190850;lymphocyte chemoattractant factor;neuronal interleukin 16;pro-interleukin-16;prointerleukin 16 APPROVED protein-coding ENSG00000172349 HGNC:5980 04329 603035 REVIEWED 1352071 IL17B interleukin 17B The protein encoded by this gene is a T cell-derived cytokine that shares sequence similarity with IL17. This cytokine was reported to stimulate the release of TNF alpha (TNF) and IL1 beta (IL1B) from a monocytic cell line. Immunohistochemical analysis of several nerve tissues indicated that this cytokine is primarily localized to neuronal cell bodies. [provided by RefSeq, Jul 2008] 5 5 5 q33.1 144835805 144840813 - 148753830 148760848 - 149374267 149404202 - 724416;1580863;6480464 10639155 10749887;11738356;12477932;12975309;15489334;15713213;16169070;16805377;19845895;19850743;22379092;22394632;23661335;23851503;24056520 27190 Q6IAG3;Q9UHF5 ABBA01026306;AC131025;AF110385;AF152098;AF184969;AF212311;AF218727;AF386077;AMYH02012443;AY358931;BC113925;BC113946;CH471062;CR457192;GM663283;HC025847;NM_014443;XM_006714779 AAF01318;AAF28104;AAF78775;AAG39637;AAG44136;AAI13926;AAI13947;AAK60336;AAQ89290;CAG33473;CAV33843;CBH19854;EAW61781;EAW61782;NP_055258;Q9UHF5;XP_006714842 Hs.156979 IL-17B;IL-20;MGC138900;MGC138901;NIRF;ZCYTO7 OTTHUMP00000160526;cytokine Zcyto7;cytokine-like protein ZCYTO7;interleukin 20;interleukin-17 beta;interleukin-17B;interleukin-20;neuronal interleukin-17 related factor;neuronal interleukin-17-related factor APPROVED protein-coding ENSG00000127743 HGNC:5982 05217 604627 REVIEWED 735883 IL17A interleukin 17A The protein encoded by this gene is a proinflammatory cytokine produced by activated T cells. This cytokine regulates the activities of NF-kappaB and mitogen-activated protein kinases. This cytokine can stimulate the expression of IL6 and cyclooxygenase-2 (PTGS2/COX-2), as well as enhance the production of nitric oxide (NO). High levels of this cytokine are associated with several chronic inflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. [provided by RefSeq, Jul 2008] 6 6 6 p12 53712308 53716559 + 52051185 52055436 + 52186387 52190638 + 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10785455;12814161;14962796;15730730;15776385;16200068;16200865;16305645;16785554;17046971;17703412;18060619;18338242;18432274;18441464;18536735;18802100;18941201;19151189;19166776;19207263;19226302;19233473;19265125;19342416;19373578;19469707;19527710;19604272;19672092;19738511;19783685;19812198;19909738;19927541;19995896;20003332;20176803;20199725;20228193;20351038;20393404;20413629;20421647;20437253;20493423;20498020;20506642;20585449;20651239;20797909;20876291;20881082;20925596;20926833;21043049;21062445;21091665;21109552;21172868;21182786;21194185;21300351;21455110;21535180;21637346;21686325;21762495;21807912;21826658;21898269;21905004;21911461;22030025;22342018;22379030;22384827;22507625;22641009;22772331;22816799;22833167;22848348;22927448;22990529;22993227;23096364;23101722;23192794;23246025;23335253;23359500;23361084;23377547;23429965;23613503;23626769;23702425;23826305;23924903;24035250;24117055;24141678;24286371;24337738;24567524;24614654;24664502;24674692;24721403;24919468;24940514;25028103;25129462;8390535 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410;24032570;24039363;24040001;24042116;24072496;24076595;24080022;24086143;24096234;24120361;24128872;24164540;24177608;24185279;24211680;24218334;24219883;24223764;24247026;24286492;24315816;24317395;24319050;24323355;24340045;24345576;24355795;24363402;24379648;24383677;24393021;24393079;24409666;24409674;24434314;24447082;24548421;24570184;24579469;24610014;24643836;24655820;24664698;24699997;24743018;24813051;24813240;24861949;24958901;24965422;7499828;8676080;9367539;9518462;9764847;9765276;9878122;9973514 3605 Q16552;Q6NZ94 ABBA01050560;AL391221;AMYH02013730;AY460616;BC066251;BC066252;BC066253;BC067503;BC067504;BC067505;CH471081;CS399132;GM832009;HC025843;HM535222;JA104579;JA381713;NG_033021;NM_002190;U32659;Z58820 AAC50341;AAH66251;AAH66252;AAH66253;AAH67503;AAH67504;AAH67505;AAR23263;ADJ56412;ADQ32019;CAA91233;CAL44889;CAV28580;CBH19852;CCA63959;CCB07363;EAX04362;NP_002181;Q16552 Hs.41724 1657414 RH18032 CTLA-8;CTLA8;IL-17;IL-17A;IL17 OTTHUMP00000016597;cytotoxic T-lymphocyte-associated antigen 8;cytotoxic T-lymphocyte-associated protein 8;cytotoxic T-lymphocyte-associated serine esterase 8;interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8);interleukin-17A APPROVED protein-coding ENSG00000112115 HGNC:5981 04396 603149 REVIEWED 1351651 IL17C interleukin 17C The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008] 16 16 16 q24 73774673 73776554 + 88705001 88706882 + 88638593 88640474 + 724416;1580863;6480464 10639155 11984595;12477932;12975309;15489334;19423540;19913121;20056178;20237496;20406964;20438785;20628086;21048031;21628458;21993848;22506826;22994872;23221046;23359500;23474800;23892590;23944933 27189 Q9P0M4 ABBA01015843;AC116552;AF152099;AMYH02032641;AY358471;BC069152;BC069410;BC101835;BC112196;CH471184;CQ847631;CS407900;CS613997;FB726961;GM008009;NM_013278 AAF28105;AAH69152;AAI01836;AAI12197;AAQ88835;CAH18037;CAL40892;CAO02250;CAS97406;CAT03419;EAW66798;NP_037410;Q9P0M4 Hs.278911 1797734;5492393;5493355 IL17C_1855;UniSTS:480908;UniSTS:485821 CX2;IL-17C;IL-21;MGC126884;MGC138401 cytokine CX2;interleukin-17C APPROVED protein-coding ENSG00000124391 HGNC:5983 06863 604628 REVIEWED 1348652 IL17D interleukin 17D The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. The treatment of endothelial cells with this cytokine has been shown to stimulate the production of other cytokines including IL6, IL8 and CSF2/ GM-CSF. The increased expression of IL8 induced by this cytokine was found to be NF-kappa B-dependent. [provided by RefSeq, Jul 2008] 13 13 13 q11 2339416 2359171 + 21276222 21297239 + 20702083 20723100 + 1580863;6480464 12097364;12477932;12975309;14702039;15489334;16670296;17068156;20237496;22156348;23064961;23490420 53342 Q8TAD2 ABBA01068589;ABBA01068590;AF458062;AF479775;AK123964;AL161772;AL512652;AMYH02027642;AMYH02027643;AX648021;AY078238;AY359113;BC036243;CH471075;FB726946;FB734925;GM040353;NM_138284;XM_005266421;XM_005266422 AAH36243;AAL86911;AAM12734;AAM77566;AAQ89471;ABM81646;CAD70069;CAS97650;CAT03412;CAV30992;EAX08274;EAX08275;EAX08276;NP_612141;Q8TAD2;XP_005266478;XP_005266479 Hs.655142 1738367;1796082;1858287 D13S502E;IL17D_1537;RH101972 FLJ30846;IL-17D;IL-22;IL-27;IL27 OTTHUMP00000018104;interleukin 27;interleukin-17D;interleukin-27 APPROVED protein-coding ENSG00000172458 HGNC:5984 16251 607587 REVIEWED 1322840 IL17F interleukin 17F The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008] 6 6 6 p12 53762606 53770421 - 52101484 52109298 - 52236686 52244500 - 1580863;6480464;6484113;8699517;8554872;7240710 11574464;11591732;11591768;11891214;12477932;14574404;15340161;15703761;15972674;16630936;16961709;17346928;17418381;17828618;17912466;18088064;18684971;18769923;18774769;18830271;19019635;19155467;19263269;19414056;19724898;19838108;19838198;19904747;19913121;20127054;20148256;20173782;20210523;20237496;20493423;20618772;20620187;20628086;20800603;21044126;21189442;21196754;21350122;21419044;21477350;21601196;21615796;22038405;22118860;22123224;22142827;22184122;22219048;22312940;22461912;22507625;22540331;22579472;22629719;22748467;22812194;22847545;23111159;23137879;23219503;23238559;23376081;23400328;23490420;23519962;23652560;23661335;23800789;23801634;23876429;24096234;24120361;24185279;24363402;24393079;24423465;24548421;24690400;24933943;24965422 112744 Q96PD4 ABBA01050558;AF332389;AF384857;AL034343;AMYH02013730;BC070124;CH471081;CS399130;GM832011;JA104581;JA381711;JF305974;NG_031869;NM_052872 AAH70124;AAK83350;AAL14427;ADY18335;CAL44888;CAV28581;CCA63960;CCB07362;EAX04363;EAX04364;NP_443104;Q96PD4 Hs.272295 2113254;2217482 D6S2393;IL17F_3149 CANDF6;IL-17F;IL-24;ML-1;ML1 OTTHUMP00000016602;cytokine ML-1;interleukin-17F;interleukin-24;mutant IL-17F APPROVED protein-coding ENSG00000112116 HGNC:16404 16224 606496;613956 REVIEWED 1315246 IL17RA interleukin 17 receptor A Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014] 22 22 22 q11.1 1188127 1213694 + 17565849 17596584 + 17084959 17115694 + 1580863;4889102;5144212;5144217;6480464;8699517;8554872;7240710 19414809;19783685;21647421 10591208;11371660;11381032;11706037;11966773;12477932;12772186;14702039;15340161;15461802;15489334;15972674;16533341;16785495;16805377;16874957;17277779;17346928;17456598;17703412;17876645;18097068;18348982;18684971;18768888;19235914;19244213;19258923;20237496;20503287;20729198;21145111;21279695;21350122;21530504;21894442;22484243;22898922;22909235;22955875;23147652;23192273;23220496;23334598;23501056;23695682;23852838;24084331;24247484;24263024;9367539 23765 Q96F46 ABBA01001459;AC006946;AF021799;AK056836;AK093772;AMYH02037985;AMYH02037986;BC011624;BC012071;BE242733;BU585070;BX334547;BX368715;BX410574;CB044543;CH471193;CS399134;CT841520;GM832013;JA381715;JF305973;NG_028257;NM_001289905;NM_014339;U58917 AAB99730;AAH11624;ABM82888;ABM86078;ADY18334;CAJ86450;CAL44890;CAV28582;CCB07364;EAW57738;EAW57739;EAW57740;EAW57741;NP_001276834;NP_055154;Q96F46 Hs.48353 1698010;1707278;1722277;1753673;2137772;5016478;5016781 G60051;GDB:434012;RH102534;RH46090;SHGC-107621;SHGC-67307;SHGC-79240 CANDF5;CD217;CDw217;FLJ32274;FLJ36453;IL-17RA;IL17R;MGC10262;hIL-17R IL-17 receptor A;OTTHUMP00000196018;OTTHUMP00000196019;interleukin 17 receptor;interleukin-17 receptor A;truncated IL-17RA APPROVED protein-coding ENSG00000177663 HGNC:5985 10399 605461;613953 REVIEWED 1322830 IL17RB interleukin 17 receptor B The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor. [provided by RefSeq, Jul 2008] 3 3 3 p21.1 53847857 53867109 + 53880577 53899827 + 53846550 53865800 + 1580863;6480464 10748240;10749887;10815801;11058597;12477932;12975309;14759258;15340161;15489334;16344560;16609001;16609019;17008703;17453342;17975144;18794098;19118269;19913121;20129063;20237496;20453000;20545698;20628086;20800603;21035370;21252617;21473777;21570719;21988832;22070932;23851503;24144296;24247484 55540 C9IZN0;Q9NRM6 ABBA01024471;AC012467;AF208110;AF208111;AF212365;AF250309;AK307749;AMYH02006831;AY359122;AY518533;BC000980;BI458542;CH471055;CS135264;DA093617;NM_018725;XM_005265310;XM_005265311;XM_005265312;XM_006713253;XM_006713254;XM_006713255;XM_006713256;XR_245147 AAF78776;AAF86051;AAF86052;AAH00980;AAK37428;AAQ89956;AAR89910;ABM81855;ABM85016;CAJ21520;EAW65298;EAW65299;NP_061195;Q9NRM6;XP_005265367;XP_005265368;XP_005265369;XP_006713316;XP_006713317;XP_006713318;XP_006713319 Hs.654970 1698836;2160299;2175944;2185208 RH102982;RH16665;RH44991;SHGC-35928 CRL4;EVI27;IL17BR;IL17RH1;MGC5245 IL-17 receptor B;IL-17 receptor homolog 1;IL-17B receptor;IL-17RB;IL-17Rh1;OTTHUMP00000212736;OTTHUMP00000212737;cytokine receptor CRL4;cytokine receptor-like 4;interleukin 17 receptor homolog 1;interleukin 17B receptor;interleukin-17 receptor B;interleukin-17B receptor APPROVED protein-coding ENSG00000056736 HGNC:18015 05677 605458 REVIEWED 1353408 IL17RD interleukin 17 receptor D This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin (PMID: 19079364). The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling (PMID: 21663947, 18096367). [provided by RefSeq, Nov 2011] 3 3 3 p14.3 57089588 57164961 - 57124010 57204345 - 57089982 57165375 - 1580863;6480464;6484113;8699517;7240710 10737800;11802164;11802165;12477932;12604616;12807873;12958313;12975309;14702039;14742870;15146197;15239952;15277532;15489334;16474841;16859641;17035228;17420726;18096367;19079364;20800603;21663947;22298595;22335910;22975329;23047677;23169297;23643382;23770285;24250222 54756 C9J6R0;Q8NFM7 ABBA01024426;ABBA01024427;ABBA01024428;AC097358;AF458067;AF494208;AF494211;AK001251;AK092579;AK093074;AK125591;AK302045;AL133097;AL833913;AMYH02006858;AMYH02006859;AMYH02006860;AY358774;AY489047;BC038369;BC111702;BF803798;BQ017683;CH471055;CN302483;NM_017563;XM_005265238;XM_006713209 AAI11703;AAM74077;AAM74080;AAM77571;AAQ89134;AAS15051;BAG63437;CAB61408;CAD38769;EAW65329;EAW65330;NP_060033;Q8NFM7;XP_005265295;XP_006713272 Hs.150725 1647134;1666334;1685313;1749219;1769139;2109431;2112630;5014051;5015619;5015961;5022200;5022651;5037552;5117897;5491822 A003P16;D11S2921;D11S3114;D15S1477;D3S3915;D3S4377;D8S2278;D8S2279;G30998;GDB:631813;IL17RD;IL17RD_9815;L18426;RH94053;SHGC-110892 DKFZp434N1928;FLJ35755;HH18;IL-17RD;IL17RLM;IL17Rhom;MGC133309;SEF;hSef IL-17 receptor D;OTTHUMP00000196519;OTTHUMP00000196520;OTTHUMP00000213733;interleukin-17 receptor D;interleukin-17 receptor-like protein;sef homolog APPROVED protein-coding ENSG00000144730 HGNC:17616 606807;615267 VALIDATED 1314983 IL17RC interleukin 17 receptor C This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling. [provided by RefSeq, Feb 2011] 3 3 3 p25.3 9894245 9910766 + 9958758 9975305 + 9917074 9933621 + 6480464 11706037;12477932;12975309;14504135;14702039;15340161;15489334;16688746;16785495;17911633;18097068;18684971;20173024;21890473;22744455;22898922;22999050;8125298 84818 A8BWC1;A8BWC9;A8BWD5;A8K3Q5;B4DI24;C9JSZ3;C9K0M1;F5H4Z2;F8WB43;F8WC09;F8WD65;F8WE27;F8WEG5;G3V177;Q8NAC3 ABBA01020397;AC018809;AF458065;AK075534;AK092907;AK094746;AK096824;AK225650;AK290670;AK294616;AK295377;AK303171;AK308241;AK315024;AK315053;AMYH02006240;AY358840;AY359098;BC006411;CH471055;CS399136;CS399138;DC381087;DC386743;EF676032;EF676033;EF676034;GM832015;GM832017;GM832034;JA381717;JA381719;KF457576;NG_029376;NM_001203263;NM_001203264;NM_001203265;NM_032732;NM_153460;NM_153461;NR_037807;XM_006713346;XM_006713347;XM_006713348;XM_006713349;XM_006713350;XM_006713351;XM_006713352;XM_006713353;XM_006713354;XM_006713355;XM_006713356;XM_006713357;XM_006713358;XM_006713359;XM_006713360 AAM77569;AAQ89199;AAQ89456;ABV44615;ABV44616;ABV44617;BAC04001;BAC11677;BAF83359;BAG57799;BAG58336;BAG64270;CAL44891;CAL44892;CAV28583;CAV28584;CAV28588;CCB07365;CCB07366;EAW64021;EAW64022;EAW64023;EAW64024;EAW64025;EAW64026;EAW64027;EAW64028;EAW64029;EAW64030;EAW64031;EAW64032;NP_001190192;NP_001190193;NP_001190194;NP_116121;NP_703190;NP_703191;Q8NAC3;XP_006713409;XP_006713410;XP_006713411;XP_006713412;XP_006713413;XP_006713414;XP_006713415;XP_006713416;XP_006713417;XP_006713418;XP_006713419;XP_006713420;XP_006713421;XP_006713422;XP_006713423 Hs.129959 1646818;1740213;1770018;2140187;2159192;5014051 D3S1652;D8S2278;G10145;SHGC-31307;STS-H27749;WI-17366 FLJ95963;FLJ96005;IL17-RL;IL17RL;MGC10763 IL-17 receptor C;IL-17RL;IL17F receptor;IL17Rhom;OTTHUMP00000158820;OTTHUMP00000180659;OTTHUMP00000200667;OTTHUMP00000207643;OTTHUMP00000207644;OTTHUMP00000207646;interleukin 17 receptor-like;interleukin-17 receptor C;interleukin-17 receptor homolog;interleukin-17 receptor-like protein;zcytoR14 APPROVED protein-coding ENSG00000163702 HGNC:18358 17142 610925 REVIEWED 1605488 IL17REL interleukin 17 receptor E-like 22 22 22 q13.33 34308563 34326686 - 50432942 50451055 - 49994513 50012626 - 20228798;21297633 400935 Q6ZVW7 ABBA01011364;ABBA01011365;ABBA01011366;ABBA01011367;ABBA01011368;AK123987;AL022327;AMYH02038593;AMYH02038594;AMYH02038595;CH471138;NM_001001694 BAC85743;EAW73487;EAW73488;NP_001001694;Q6ZVW7 Hs.526712 FLJ41993 IL-17 receptor E-like;IL-17RE-like;OTTHUMP00000196724;putative interleukin-17 receptor E-like protein-coding ENSG00000188263 HGNC:33808 13456 613414 VALIDATED 1602300 IL17RE interleukin 17 receptor E This gene encodes a transmembrane protein that functions as the receptor for interleukin-17C. The encoded protein signals to downstream components of the mitogen activated protein kinase (MAPK) pathway. Activity of this protein is important in the immune response to bacterial pathogens. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013] 3 3 3 p25.3 9879775 9893567 + 9944296 9958086 + 9902612 9916402 + 6480464;8554872 12477932;12975309;14702039;16310341;16344560;20459687;21732179;21982598;21993848;21993849;23054011 132014 A6NL85;B4DMZ3;C9J1R2;F8WB54;F8WCU7;J3KQN7;Q8NFR9 ABBA01020397;AC018809;AF458069;AK074238;AK096793;AK096801;AK297697;AK298025;AK314476;AMYH02006240;AY358451;BC035478;BC063110;BC137077;BC137078;CH471055;CS407885;CS407894;CS407904;CS613982;CS613991;CS614001;DA592287;GM007994;GM008003;GM008013;NM_001193380;NM_153480;NM_153481;NM_153483;NR_104198;XM_006712975;XM_006712976;XM_006712977 AAH63110;AAI37078;AAI37079;AAM77573;AAQ88816;BAB85028;BAC04863;BAC04864;BAG37081;BAG60055;BAG60327;CAL40887;CAL40890;CAL40894;CAO02245;CAO02248;CAO02252;CAS97401;CAS97404;CAS97408;EAW64016;EAW64017;EAW64018;EAW64019;EAW64020;NP_001180309;NP_705613;NP_705614;NP_705616;Q8NFR9;XP_006713038;XP_006713039;XP_006713040 Hs.390823 1646818;1770018;5022578;5022651 D11S2921;D1S1423;STS-H27749;WI-17366 FLJ23658;MGC71884 IL-17 receptor E;OTTHUMP00000158822;OTTHUMP00000207617;OTTHUMP00000207618;interleukin-17 receptor E APPROVED protein-coding ENSG00000163701 HGNC:18439 17143 614995 REVIEWED 1348622 IL18BP interleukin 18 binding protein The protein encoded by this gene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production, resulting in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] 11 11 11 q13 69011930 69015547 + 71709955 71713965 + 71998661 72002919 + 1580863;4889578;4889551;4889400;2313895;4892618;6480464;8655940;8655943 11577031;12874202;18959458;19164288;19805173;20026745;21962809 10023777;10094485;10329540;10655506;10737800;11739524;11890646;11907126;12381835;12477932;12482935;12960225;14702039;15188356;15340161;15489334;16043644;16341674;16712791;17207965;17951325;18092318;18594952;19046253;19394601;19699611;19961286;20072626;20140691;20331378;20452482;20673868;21078084;21126942;21418867;21440322;21656327;21867627;22289535;22913567;23419721;23873689;24478434 10068 G3V1C5;O95998 AB019504;ABBA01017544;AF086560;AF110798;AF110799;AF110800;AF110801;AF122906;AF122908;AF215907;AK098255;AL698586;AMYH02025072;AP002490;AW295729;BC044215;BF934342;BM819966;BX357194;CB154498;CH471076;NG_029021;NM_001039659;NM_001039660;NM_001145055;NM_001145057;NM_005699;NM_173042;NM_173044;XM_005273705;XM_006718403;XM_006718404;XM_006718405;XM_006718406;XM_006718407;XM_006718408;XM_006718409;XM_006718410 AAD17187;AAD17188;AAD17189;AAD17190;AAD17191;AAD17192;AAD41051;AAD41053;AAF31697;AAH44215;ADQ33099;BAA76374;BAG53602;EAW74812;EAW74813;EAW74814;EAW74815;EAW74816;EAW74817;EAW74818;EAW74819;EAW74820;NP_001034748;NP_001034749;NP_001138527;NP_001138529;NP_005690;NP_766630;NP_766632;O95998;XP_005273762;XP_006718466;XP_006718467;XP_006718468;XP_006718469;XP_006718470;XP_006718471;XP_006718472;XP_006718473 Hs.591967 1685482;1797736;2134900;2140792 IL18BP_761.2;NUMA;RH80107;STS-AA026901 IL18BPa IL-18BP;MC51L-53L-54L homolog gene product;OTTHUMP00000165108;OTTHUMP00000179141;OTTHUMP00000179142;OTTHUMP00000179143;OTTHUMP00000196341;OTTHUMP00000236509;OTTHUMP00000236510;OTTHUMP00000236511;interleukin-18-binding protein;tadekinig-alfa APPROVED protein-coding ENSG00000137496 HGNC:5987 04984 604113 REVIEWED 730894 IL18 interleukin 18 The protein encoded by this gene is a proinflammatory cytokine that augments natural killer cell activity in spleen cells, and stimulates interferon gamma production in T-helper type I cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011] 11 11 11 q22.2-q22.3 109167214 109188073 - 112013974 112034840 - 112143251 112164117 - 1580863;2315917;4889913;4889836;4889841;4889862;4889863;4889585;4889590;4889903;4889964;4889917;4889927;4889475;4889574;4889856;4889900;4889908;4889924;4889415;4889548;4889401;4889404;4889454;4889575;4889823;4889417;4889491;4889510;4889526;4889542;4889550;4889581;4889883;4889916;4889923;4889960;2315887;4889416;2317284;4889543;4889546;4889547;4889910;4889159;4889402;4889898;4889400;729222;4889473;2311084;4889556;4889578;4889403;4889158;4889576;4891154;4889500;4889815;4889551;4889584;729357;4889555;4889865;2315889;4889503;4889825;4889844;5144220;6480464;5490305;6893450;6893446;6893447;6893449;6893448;6484113;6907045;8655901;8655868;8655870;8655872;8655876;8655931;8655932;8655920;8655918;8655930;8655888;8655964;8655865;8655866;8655896;8655902;8655903;8655908;8655909;8655926;8655982;8655899;8655879;8655897;8655898;8655969;8655972;8655993;6771363;8655963;8655974;8655925;8655915;8655940;8655875;8655941;8655957;8655929;8655991;8655874;8655943;8655952;8655927;8655921;8655891;8655907;8655937;8655997;8655878;8655910;8655914;8655916;8554872;8655877;8655985;8655917;8655871;8655890;7175343;8655867;8655894;8655919;8655924;8655934;8655935;8657054;8655881;8655900;8655922;8655938;8655947;8655923;8655971;8655988 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10000000;10227975;10460493;10639148;10653850;10681439;11466388;11477102;11506998;11598150;11714750;11714826;11770036;11781190;11790772;11798931;11805151;11855785;11888846;11894141;11895335;11905033;11907126;11920321;11936774;11958300;11960649;12096920;12105209;12149432;12172382;12207348;12366781;12377944;12381835;12387830;12390326;12401730;12424620;12438388;12456593;12472176;12472673;12477932;12482935;12517977;12527894;12571842;12572878;12594843;12616343;12654091;12679613;12738632;12748489;12759422;12788305;12794718;12796418;12819633;12847274;12857602;12858406;12874316;12911784;12938205;12941729;12947340;14504095;14556808;14561165;14581397;14584052;14605444;14617033;14630085;14640907;14660053;14662834;14679107;14697936;14709415;14718574;14725568;14734463;14738910;14764217;14960579;14991611;14998974;15005726;15104599;15140035;15212675;15225625;15230817;15277983;15302292;15326478;15327523;15358638;15371332;15463896;15471361;15489334;15555533;15581980;15585330;15643599;15644127;15645140;15646011;15663745;15674367;15710458;15728489;15731584;15753257;15760905;15786533;15789055;15802534;15816833;15826815;15842270;15860738;15860756;15863395;15894108;15896202;15927856;15932380;15955098;15963597;16024007;16043644;16049975;16051062;16052331;16053025;16059673;16061751;16078996;16084898;16186395;16215941;16243298;16266857;16306550;16306764;16306765;16315783;16316892;16325763;16339124;16358956;16373926;16405895;16406656;16420594;16424284;16433722;16443795;16482511;16492204;16493047;16514436;16516851;16556702;16563174;16584830;16621994;16635219;16647017;16650813;16671950;16738942;16759385;16767839;16772281;16780720;16806233;16820919;16827865;16839849;16842597;16883062;16903774;16909454;16943580;16948912;16971411;16979683;17001321;17016692;17027359;17072982;17075246;17077020;17117487;17142727;17192354;17222831;17225121;17225924;17235324;17237446;17252172;17262717;17299019;17301041;17336309;17343316;17355643;17361200;17364073;17373930;17396252;17399992;17445542;17461482;17487222;17517876;17530707;17586702;17597334;17597823;17605864;17610422;17611643;17611971;17625598;17626902;17658666;17666338;17671745;17674327;17683383;17687255;17688413;17691022;17703412;17708609;17765248;17845300;17851127;17851835;17893261;17907957;17919265;17922692;17948066;17951325;17959666;17962365;17964972;17965486;17981284;17984243;17988833;18024284;18050195;18050226;18064631;18092318;18093181;18160214;18160936;18163476;18165223;18178861;18225542;18225563;18235016;18237555;18250135;18279187;18286551;18287807;18295214;18295340;18297714;18307517;18336908;18386818;18391570;18399311;18433937;18442334;18464913;18504197;18514203;18514661;18520705;18523012;18538088;18555694;18562922;18566306;18594952;18599493;18628791;18632660;18662786;18678419;18683145;18684981;18685607;18706445;18773860;18777510;18780764;18781864;18803662;18818748;18818761;18819819;18821674;18835036;18853133;18922682;18930181;18937548;18940019;18949051;18983635;19016763;19019335;19031096;19036565;19064572;19073159;19074166;19074885;19077897;19088061;19091595;19092166;19097518;19102398;19110334;19126646;19131059;19138654;19176284;19178691;19200605;19229765;19230467;19236760;19247692;19258923;19263242;19265133;19285156;19309308;19339355;19342689;19347053;19387647;19390575;19394601;19403407;19420105;19443970;19453784;19455410;19466545;19469892;19470251;19473509;19508433;19509137;19527514;19538326;19550095;19553661;19573080;19581111;19584085;19593889;19605669;19622039;19633236;19637196;19638090;19638429;19639049;19642044;19657406;19669125;19669363;19684151;19687159;19692203;19699611;19712260;19740312;19757044;19758166;19773279;19789190;19796548;19811440;19816189;19817957;19865096;19879772;19900154;19907017;19913121;19954659;19961286;19961892;20003764;20017708;20056178;20060272;20061784;20083555;20096599;20097272;20137369;20140262;20140691;20150558;20169140;20186552;20216908;20227257;20227263;20233133;20237496;20304021;20306652;20306665;20339966;20340055;20349123;20350254;20374388;20399512;20412718;20414054;20416077;20418295;20423837;20424918;20441695;20452482;20478055;20482998;20485444;20490717;20490891;20525402;20530519;20538124;20545903;20558561;20565717;20568250;20586818;20617584;20627039;20628086;20673868;20689079;20725807;20735470;20797704;20818961;20824296;20885390;20960175;20964873;20971720;21035858;21061265;21118329;21120501;21126942;21139048;21145535;21149337;21149398;21224476;21225442;21239711;21241672;21249128;21264805;21273776;21288140;21321938;21323571;21323573;21334074;21336086;21356600;21382268;21393015;21394384;21395662;21398142;21418456;21418867;21421008;21437204;21440322;21448661;21464751;21470492;21481392;21484426;21487696;21510800;21526496;21538928;21571262;21611751;21636628;21656327;21661419;21672342;21681500;21710494;21723753;21733366;21742406;21742843;21802664;21832842;21836143;21836147;21840518;21842238;21864160;21867627;21876975;21906983;21922295;21943853;21963094;21965503;21969001;21988832;22008665;22015107;22058412;22125454;22135309;22136483;22141572;22149501;22226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3606 Q14116 AB015961;ABBA01039802;ABBA01039803;ABBA01039804;AF077611;AF380360;AJ295724;AK311301;AMYH02025585;AP002007;AP002884;AY044641;AY266351;BC007007;BC007461;BC015863;BU633686;CH471065;CR541973;CR542001;D49950;NG_028143;NM_001243211;NM_001562;U90434 AAB50010;AAC27787;AAH07007;AAH07461;AAK57024;AAK95950;AAP92112;BAA08706;CAC01436;CAG46771;CAG46798;EAW67184;EAW67185;NP_001230140;NP_001553;Q14116 Hs.83077 1683327;1797738;5024756 IL18_1978;RH38662;RH80030 IGIF;IL-18;IL-1g;IL1F4;MGC12320 IFN-gamma-inducing factor;IL-1 gamma;OTTHUMP00000234749;OTTHUMP00000234750;OTTHUMP00000234751;iboctadekin;interferon gamma-inducing factor;interleukin 18 (interferon-gamma-inducing factor);interleukin-1 gamma;interleukin-18 APPROVED protein-coding ENSG00000150782 HGNC:5986 02976 600953 REVIEWED 1315691 IL18RAP interleukin 18 receptor accessory protein The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing cell-mediated immunity. This protein enhances the IL18-binding activity of the IL18 receptor and plays a role in signaling by IL18. Mutations in this gene are associated with Crohn's disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014] 2 2 2 q12 97236395 97270167 + 103035254 103069025 + 102418794 102452565 + 1580863;5024946;4889578;6480464;6484113;8554872 18774397;19164288 10925275;10951141;11046021;11788557;12477932;15489334;15760905;15815621;16043644;17897836;18092318;18311140;18439550;18805825;19073967;19103669;19180518;19336475;19473509;19542083;19693089;19714583;19760754;20176734;20190752;20237496;20353565;20647273;21072187;21102463;21832049;22289858;22685567;23042114;23128233;23817571;23891168;23999434;24842757;9792649 8807 C9JLE2;O95256 ABBA01073899;AC007248;AC007278;AF077346;AK300026;AMYH02004437;BC069630;BC106764;BC106765;BC137474;BC137475;CH471127;DN996214;DQ116957;JA738813;NG_011481;NM_003853;XM_005264034 AAC72196;AAH69630;AAI06765;AAI06766;AAI37475;AAI37476;AAY15049;AAY15080;AAZ52551;BAG61837;CCF77059;EAX01791;NP_003844;O95256;XP_005264091 Hs.158315 ACPL;CD218b;CDw218b;IL-18R-beta;IL-18RAcP;IL-18Rbeta;IL-1R-7;IL-1R7;IL-1RAcPL;IL18RB;MGC120589;MGC120590 CD218 antigen-like family member B;IL-18 receptor accessory protein;IL-18 receptor beta;IL-1R accessory protein-like;OTTHUMP00000161337;OTTHUMP00000203106;accessory protein-like;cluster of differentiation w218b;interleukin-1 receptor 7;interleukin-18 receptor accessory protein;interleukin-18 receptor accessory protein-like;interleukin-18 receptor beta APPROVED protein-coding ENSG00000115607 HGNC:5989 05147 604509 REVIEWED 1318449 IL18R1 interleukin 18 receptor 1 The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] 2 2 2 q12 97180238 97216360 + 102979093 103015230 + 102356283 102398775 + 1580863;4889841;5024942;4889574;5024943;5024944;5024945;5024946;5024948;5024947;2311529;6480464;6484113 11972614;14641797;15308504;15470078;18382474;18774397;19265174;19269041;19910030;20860503 10191101;10227969;10925275;12096920;12477932;14662834;14662859;14734551;15009178;15044087;15063762;15202785;15323361;15489334;15760905;15815621;15860756;16043644;16236915;16467876;16971411;16979683;17403771;17703412;18311140;18715339;18976975;19180518;19249008;19258923;19394601;19473509;19592492;19817957;19879772;19954659;20190752;20237496;20353565;20354066;20379614;20424473;20503287;20627039;20816195;20833839;21102463;21435242;21742843;21965503;22136483;22289858;22561531;23028483;23042114;23103228;23128233;23817571;23867815;23901078;23963474;24842757;25250214;8626725;8898719;9325300 8809 B7ZKV7;Q13478;Q86YL8 ABBA01073899;AC007248;AI803942;AMYH02004437;AY192162;BC069575;BC093975;BC093977;BC143403;BC143405;CH471127;DR006178;KM264374;KM264375;NM_001282399;NM_003855;U43672;XM_005264039;XM_005264040;XM_006712823 AAC50390;AAH69575;AAH93975;AAH93977;AAI43404;AAO41718;AAY15048;AIR76260;AIR76261;EAX01792;EAX01793;EAX01794;NP_001269328;NP_003846;Q13478;XP_005264096;XP_005264097;XP_006712886 Hs.469521 1706058;1796086;5017461 IL18R1_150;SHGC-80064;Sctt010 CD218a;CDw218a;IL-1Rrp;IL18RA;IL1RRP CD218 antigen-like family member A;IL-18R-1;IL-18R1;IL1 receptor-related protein;IL18Ralpha2;IL1R-rp;OTTHUMP00000161340;OTTHUMP00000203113;cytokine receptor;interleukin-18 receptor 1 APPROVED protein-coding ENSG00000115604 HGNC:5988 05138 604494 REVIEWED 1315107 IL19 interleukin 19 The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 1 q32.2 180223655 180267841 + 206972215 207016326 + 206798870 206842981 + 1580863;5037232;5037236;5024938;6480464;6484113;6907045;8554872 15557163;18246602;20618701 11163236;11196675;11564763;11929132;12023331;12351624;12370360;12403790;12477932;12486876;14580208;14675174;15120647;15340161;15815689;15827959;15857508;16631120;16710414;16778150;17083366;17263806;17449492;17465720;17522354;17703412;18006695;18479293;18669613;18809337;19087313;19258923;19430480;19573080;19773279;19786281;20228799;20237496;20379614;20503287;20568250;20603037;20699607;20800603;20806065;20966397;20976276;21102463;21297633;21767236;21814157;21925224;22021194;22158875;22186257;22583192;23000500;23128233;23582717;23596173;23710200;24527982;24919552 29949 Q9UHD0 ABBA01010193;ABBA01010194;AF192498;AF276915;AF390905;AF453946;AL049615;AL513315;AMYH02002556;AY040367;CA306526;CH471100;NM_013371;NM_153758 AAF06663;AAG16755;AAI48535;AAI53128;AAI72584;AAK64498;AAK91776;AAN40906;CAB72342;EAW93522;EAW93523;NP_037503;NP_715639;Q9UHD0 Hs.661017 1669339;1698450;2129907;2151328;2219162 AL009417;D1S177;IL19_2666;RH102774;SHGC-76229 IL-10C;MDA1;NG.1;ZMDA1 OTTHUMP00000034568;OTTHUMP00000216804;interleukin-19;melanoma differentiation associated protein-like protein;melanoma differentiation-associated protein-like protein APPROVED protein-coding ENSG00000142224 HGNC:5990 05747 605687 REVIEWED 735707 IL1A interleukin 1, alpha The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008] 2 2 2 q14 106917026 106928133 - 113531492 113542971 - 112773915 112785394 - 1300048;1358667;1580863;2311062;2311084;2311094;2311069;2311098;2311065;2311066;2311100;2311064;2311067;2311075;2311076;2311092;2311088;2307061;2317657;4142849;4143183;4142860;2314952;4142804;4142835;4142838;4891398;4142803;4142790;4142788;4142832;4142854;4142859;4142809;4142818;4142806;4143222;4142855;4142811;4142802;4142805;4142793;5490209;6480464;6484113;6907117;6907045;6907106;6906881;6907107;6907109;6907069;5131471;6907377;6907070;6907113;6907071;6907373;6907116;6907105;6907108;5131286;7401191;7794709;7794711;7794712;7401166;7794741;7794766;7794765;7401205;7794716;7794728;7794734;7794735;7794763;7794786;7794724;7794767;7794730;7794725;7794755;7794764;7794736;7794729;7794733;8662976 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00332;20207250;20213229;20217044;20220089;20227257;20237496;20299682;20335539;20347268;20353565;20371868;20400062;20413850;20418110;20427258;20445556;20452482;20453000;20459687;20472930;20490394;20490891;20495422;20503287;20534741;20536507;20536609;20561568;20565898;20568250;20574532;20594066;20595916;20602615;20603037;20603050;20619343;20628086;20630038;20673868;20677014;20725607;20800603;20844546;20847078;20848459;20889944;20934174;20940514;20942594;20959405;20961668;21035110;21037510;21048327;21054222;21070631;21086908;21107309;21133705;21154765;21196890;21205020;21235388;21270123;21279638;21311438;21336718;21385326;21393239;21394384;21449691;21509504;21518761;21620624;21621860;21682548;21712624;21768915;21795706;21816944;21847358;21871094;21968104;22083707;22092925;22124068;22143786;22151432;22153345;22177239;22197408;22211888;22216303;22234841;22282663;22285242;22312160;22344672;22348697;22364598;22417897;22513697;22582837;22633328;22675954;22678894;22732089;22805136;22868802;22879895;22894561;22949675;23018032;23052182;23076369;23078215;23100272;23159404;23203659;23216199;23241110;23271701;23289806;23322030;23349093;23383108;23395675;23454256;2346741;23509928;23527710;23542780;23554905;23583823;23592003;23594042;23635948;23639700;23645090;23722873;23723976;23747396;23749763;23846687;23900673;23927441;24043886;24055697;24060296;24062309;24063019;24063999;24096733;24103372;24146121;24265545;24272484;24273934;24275344;24313836;24352037;24453029;24515998;24530664;24612355;24613844;24615437;24866792;2536171;2635664;2783369;2946959;2989698;2994016;3281727;3485152;3486405;3493774;6209582;7494249;7499244;7511078;7526541;7561697;7566121;7695626;7706435;7815507;7818827;7857652;7878046;8188271;8346241;8370968;8436814;8458986;8621446;8764000;8892361;8938574;9108403;9169134;9185130;9225992;9658081;9820540 3552 P01583 ABBA01074249;AC079753;AC112235;AF536338;AK314850;AMYH02004593;BC013142;BC035169;BN000002;BT007014;CA307202;CH471217;CR457414;M15329;NG_008850;NM_000575;X02531;X02851;X03833;X56086 AAA59133;AAH13142;AAM96189;AAP35660;AAX93054;ABM81601;ABM84782;BAG37367;CAA26371;CAA26604;CAA27448;CAA39566;CAD29871;CAG33695;EAW73604;NP_000566;P01583 Hs.1722 1670722;1694518;1710504;1741025;1741161;1741495;1742419;1742853;1742861;1853402;2113552;2118293;2190607;5122315 D2S2565;G43002;GDB:177384;GDB:178390;GDB:181250;GDB:190869;GDB:196942;GDB:210902;GDB:211100;IL1A;IL1A_v436;RH18071;SHGC-6140;SHGC-86275 IL-1A;IL1;IL1-ALPHA;IL1F1 IL-1 alpha;OTTHUMP00000161990;OTTHUMP00000203692;hematopoietin-1;interleukin 1 alpha;interleukin-1 alpha;preinterleukin 1 alpha;pro-interleukin-1-alpha APPROVED protein-coding HGNC:5991 00988 147760 REVIEWED 1313781 IL1F10 interleukin 1 family, member 10 (theta) The protein encoded by this gene is a member of the interleukin 1 cytokine family. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. This cytokine is thought to participate in a network of interleukin 1 family members to regulate adapted and innate immune responses. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 2 2 2 q13 107210716 107218594 + 113825547 113833427 + 113067970 113075850 + 1580863;6480464 10512743;10625660;10744718;10860666;11093146;11145836;11278614;11466363;11574262;11747621;11991722;11991723;12477932;12975309;15489334;15815621;16361275;17975119;18063673;18361937;18464913;18484691;19023099;19913121;20141484;20237496;20628086;20800603;20959797;20975573;21300955;22312160;22315422;22939635;23969696;24182552;8188271;9169134 84639 Q8WWZ1 ABBA01074247;AC016724;AF334755;AF334756;AMYH02004595;AY026753;AY029413;AY358846;AY972854;BC103966;BC103967;BC103968;BN000002;CH471217;NM_032556;NM_173161 AAI03967;AAI03968;AAI03969;AAK01948;AAK33010;AAK68048;AAK68049;AAQ89205;AAX59032;AAY14991;CAD29878;EAW73619;EAW73620;NP_115945;NP_775184;Q8WWZ1 Hs.306974 1783908;2217484 IL1F10_3319;SHGC-106894 FIL1-theta;FKSG75;IL-1HY2;IL-38;IL1-theta;IL1HY2;MGC119831;MGC119832;MGC119833 FIL1 theta;IL-1 theta;IL-1F10 (canonical form IL-1F10a);OTTHUMP00000162018;OTTHUMP00000203696;family of interleukin 1-theta;interleukin-1 HY2;interleukin-1 family member 10;interleukin-1 receptor antagonist FKSG75;interleukin-1 receptor antagonist-like FIL1 theta;interleukin-1 theta;interleukin-38 APPROVED protein-coding ENSG00000136697 HGNC:15552 17144 615296 REVIEWED 735430 IL1R1 interleukin 1 receptor, type I This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013] 2 2 2 q12 96971617 96997550 + 102686836 102796334 + 102070376 102179874 + 1580863;2311107;2311068;1598407;2311106;5037239;5037237;5037238;5130945;5490209;6480464;6484113;6892703;6907045;7207035;7207036;8662876;8662882;8662895;8662902;8662903;8554872;8662931;8662898 11197691;11311987;11585580;1375465;16456668;16797208;17500042;17901159;18637763;19022353;19168746;19732182;20081871;20967881;23033384;7835294;8737779;8911996 10191101;10373529;10383454;10737800;10854325;10903327;11040178;11083263;11127457;11220627;11233912;11278614;11380474;11380940;11390630;11427627;11506478;11508575;11527622;11578018;11641511;11665666;11742191;11752505;11762793;11790645;11820460;11838837;11846196;11849463;11851889;11956022;12028539;12038885;12077269;12082592;12095061;12133437;12136897;12138282;12145738;12164325;12212456;12240899;12242293;12363051;12412204;12424621;12425801;12472674;12477576;12477932;12496252;12558814;12595908;12609980;12659850;12721283;12729621;12752101;12804791;12890860;12925853;14557872;14563376;14644395;14680589;14734209;14735144;14758530;14872281;15170937;15188516;15190266;15300624;15361128;15375600;15388348;15472211;15481335;15489334;15653174;15723707;15789892;15797878;15866876;15919456;16024789;16100774;16258158;16286467;16301860;16305343;16323614;16344560;16354686;16477012;16564702;16573560;1672292;16911713;16937503;16938461;17083033;17113392;17257312;17324958;17413037;17477815;17480058;17517439;17584583;17607501;17622942;17627763;17688691;17703412;17889143;18052726;18321953;18322311;1833184;18484169;18576303;18624935;18632425;18763028;18773331;18810365;18818748;18996842;19019335;19064572;19076825;19117745;19141860;19142372;19180518;19211154;19232518;19258923;19290009;19332120;19339270;19408823;19428986;19431193;19453261;19470040;19488045;19527514;19573080;19594368;19683555;19684156;19702713;19716405;19729601;19738620;19773279;19773451;19801678;19819943;19822442;19844779;19860911;19913121;19940113;19948975;19950169;19965648;20054003;20064081;20066156;20120526;20140262;20213229;20237496;20349753;20353565;20400062;20452482;20503287;20523065;20568250;20602615;20603050;20628086;20628624;20673868;20709104;20799037;20800603;20806065;20811626;20816195;20818961;20819778;20956022;20959405;21083841;21086908;21281963;21435443;21787753;21858107;21998454;22031183;22173128;22262840;22267087;22285486;22385245;22417897;22426547;22435759;22509941;22515947;22561531;22574108;22594576;22904187;23022958;23128233;23375040;23407395;23634226;23722873;23969696;23999434;24080160;24315345;24328419;24356554;24458711;24735611;24842757;2521881;2530587;2532321;2946959;7818827;7878046;8327496;8599092;9062193;9062194;9120302;9360994;9371760;9374458;9575168 3554 B8ZZ73;B8ZZW4;B9A040;C9J3W8;C9J686;C9JQ36;C9JW84;C9JWB2;F8WF92;H7BZM5;P14778 ABBA01073900;AC007271;AF531102;AK026803;AK314433;AL548240;AMYH02004435;AX530423;BC067506;BC067507;BC067508;BC075062;BC075063;BE144272;BQ021163;CH471127;DA861783;HY092388;JA738563;KF456690;M27492;NM_000877;NM_001288706;X16896;XM_005263929;XM_005263930;XM_005263931;XM_005263932;XM_005263933;XM_005263934;XR_244889 AAA59137;AAH67506;AAH67507;AAH67508;AAH75062;AAH75063;AAM88423;AAX81988;CAA34773;CAD57171;CCF76934;EAX01799;NP_000868;NP_001275635;P14778;XP_005263986;XP_005263987;XP_005263988;XP_005263989;XP_005263990;XP_005263991 Hs.701982 1339626;1778631;1778871;2121841;2152276;5037552 D19S876;D2S1426;D8S2279;RH69111;SHGC-35324;SHGC-36622 CD121A;D2S1473;IL-1R-alpha;IL1R;IL1RA;P80 CD121 antigen-like family member A;IL-1R-1;IL-1RT-1;IL-1RT1;OTTHUMP00000161344;OTTHUMP00000203887;OTTHUMP00000203888;OTTHUMP00000203889;OTTHUMP00000203891;OTTHUMP00000207977;antigen CD121a;interleukin 1 receptor alpha, type I;interleukin receptor 1;interleukin-1 receptor alpha;interleukin-1 receptor type 1;interleukin-1 receptor type I APPROVED protein-coding ENSG00000115594 HGNC:5993 00994 147810 REVIEWED 1352690 IL1R2 interleukin 1 receptor, type II The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012] 2 2 2 q12 96809517 96846098 + 102608306 102644885 + 101991820 102028423 + 1580863;5490209;6480464;6484113;6907045;8662885;8662884;8554872;8662870 18315432;20081871;22652460;24818754 10191101;10210771;11023264;11520075;11804955;11846196;12356774;12363051;12372465;12377932;12477932;12530978;12794127;14674121;15489334;15653174;15705625;15815621;16596202;16971486;17207965;17307738;17324958;17413037;17482186;17517439;17702847;17703412;17919610;18096476;1830582;1833184;1834644;1834697;18818748;19019335;19026558;19180518;19258923;19336370;19401759;19453261;19489917;19527514;19573080;19773279;19913121;19948975;20062062;20140262;20237496;20353565;20452482;20503287;20568250;20628086;20652271;20654748;20673868;21041274;21083841;21297633;21666788;21670103;21683158;21704385;22048455;23128233;23395675;23453885;23969696;24049095;24313836;7564267;7878046;7963543;7989776;8294881;8332913;8634411;8698397;8702856;8786316;8894439;8898719;8985204;9159157;9166705;9168406;9417814;9862719 7850 C9JNR0;P27930 ABBA01073900;AC005035;AC007165;AK130412;AK309161;AMYH02004434;AMYH02004435;AX306559;AX377382;AX530425;AY124010;BC012346;BC027733;BC039031;CH471127;CS068590;CS435061;DC380050;FJ200480;HI582479;NM_001261419;NM_004633;NR_048564;U64094;U74649;X59770;XM_006712733;XM_006712734;XM_006712735;XM_006712736 AAB05878;AAD00242;AAH27733;AAH39031;AAK52072;AAM64221;ACO54877;ADQ33008;CAA42441;CAD19056;CAD28169;CAD57172;CAI84626;CAL63915;CBX46851;EAX01800;EAX01801;EAX01802;EAX01803;NP_001248348;NP_004624;P27930;XP_006712796;XP_006712797;XP_006712798;XP_006712799 Hs.25333 1672494;2135149 SHGC-35080;WI-11083 CD121b;CDw121b;IL-1R-2;IL-1R-beta;IL-1RT-2;IL-1RT2;IL1R2c;IL1RB;MGC47725 CD121 antigen-like family member B;IL-1 type II receptor;OTTHUMP00000161283;OTTHUMP00000207968;OTTHUMP00000207969;antigen CDw121b;interleukin 1 receptor type II variant 3;interleukin-1 receptor beta;interleukin-1 receptor type 2;interleukin-1 receptor type II;type II interleukin-1 receptor, beta APPROVED protein-coding ENSG00000115590 HGNC:5994 00995 147811 REVIEWED 730981 IL1B interleukin 1, beta The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2008] 2 2 2 q14 106972536 106979555 - 113587337 113594356 - 112829751 112836779 - 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3553 C9JSC2;C9JVK0;C9JWV2;P01584 AB451494;ABBA01074249;AC079753;AF043335;AK313983;AMYH02004594;AY137079;BC008678;BN000002;BT007213;CH471217;CR407679;JA104597;K02770;M15330;M15840;M54933;NG_008851;NM_000576;X02532;X04500;X52430;X52431;X56087;XM_006712496 AAA36106;AAA59135;AAA59136;AAA74137;AAC03536;AAH08678;AAM88883;AAP35877;AAX88888;ABM81599;ABM84780;BAG70308;CAA26372;CAA28185;CAA39567;CAD29872;CAG28607;CCA63968;EAW73605;EAW73606;EAW73607;NP_000567;P01584;XP_006712559 Hs.126256 1662400;1671063;1722381;1742331;1791344;1793908;1794554;1796088;1847193;1854759 D2S2849;G10509;G60262;GDB:196343;IL1B_353;PMC104510P1;PMC305895P1;PMC317379P1;RH11481;RH48318 IL-1;IL1-BETA;IL1F2 IL-1 beta;OTTHUMP00000162031;OTTHUMP00000203693;OTTHUMP00000203694;OTTHUMP00000203695;catabolin;interleukin-1 beta;preinterleukin 1 beta;pro-interleukin-1-beta APPROVED protein-coding ENSG00000125538 HGNC:5992 00985 137215;147720 REVIEWED 732294 IL1RAP interleukin 1 receptor accessory protein Interleukin 1 induces synthesis of acute phase and proinflammatory proteins during infection, tissue damage, or stress, by forming a complex at the cell membrane with an interleukin 1 receptor and an accessory protein. This gene encodes the interleukin 1 receptor accessory protein. The protein is a necessary part of the interleukin 1 receptor complex which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in two transcript variants encoding two different isoforms, one membrane-bound and one soluble. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Nov 2009] 3 3 3 q28 188662339 188805268 + 190231840 190378856 + 190514051 190657197 + 1580863;5490209;6480464;6907045;8554872 20081871 10373529;10799889;10854325;11279295;11416133;11544529;11880380;12393699;12477932;12483539;12530978;12659850;12721283;12781872;14702039;14734551;15231748;15489334;15528363;15849357;16341674;16344560;16519819;17207965;17507369;17889143;17949817;18156980;18299313;18385676;18818748;19019335;19240061;19481478;19527514;19913121;19946888;20140262;20237496;20379614;20628086;20730440;20805474;20966902;21139048;21272866;21373837;21958553;21988832;22251538;22723552;22778412;22904187;23980170;24735611;7775431;8626725;8837778;8889548;9065432;9371760;9479509;9820540;9862719;9923604 3556 A8K6K4;C9J1D9;C9J9W1;C9JT28;H7C3W4;Q9NPH3 AB006537;ABBA01058325;ABBA01058326;ABBA01058327;ABBA01058328;AC008249;AC108747;AF016261;AF029213;AF167340;AF167342;AF167343;AF487335;AF538730;AF538731;AF538732;AF538733;AF538734;AK095107;AK291669;AMYH02008408;AMYH02008409;BC016141;BC053621;BG032519;BM194193;BM760155;BM973472;CH471052;DA024801;DN990628;EF591790;FJ998418;NG_029105;NM_001167928;NM_001167929;NM_001167930;NM_001167931;NM_002182;NM_134470;XM_005247433;XM_005247434 AAB84059;AAC39609;AAF71687;AAF71688;AAF71689;AAH53621;AAO49451;AAQ01755;AAQ01756;AAQ01757;AAQ01758;AAQ01759;ABU90811;ACR82488;ADQ32601;BAA25421;BAC04487;BAF84358;EAW78100;EAW78101;EAW78102;EAW78103;NP_001161400;NP_001161401;NP_001161402;NP_001161403;NP_002173;NP_608273;Q9NPH3;XP_005247490;XP_005247491 Hs.478673 1335248;1335696;1654044;1717527;1727951;1738901;1766315;2106509;2165910;5095002;7185173 D3S1288;D3S2747;D3S3177;D3S4254;G63395;IL1RAP;IL1RAP_4108;RH122067;SHGC-149663;SHGC-77653 C3orf13;FLJ37788;IL-1R-3;IL-1R3;IL-1RAcP;IL1R3 IL-1 receptor accessory protein;OTTHUMP00000209485;OTTHUMP00000209486;OTTHUMP00000209487;OTTHUMP00000209488;OTTHUMP00000209489;OTTHUMP00000209490;OTTHUMP00000209491;OTTHUMP00000209492;OTTHUMP00000209493;interleukin-1 receptor 3;interleukin-1 receptor accessory protein;interleukin-1 receptor accessory protein beta APPROVED protein-coding ENSG00000196083 HGNC:5995 04021 602626 REVIEWED 1349606 IL1RAPL2 interleukin 1 receptor accessory protein-like 2 The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. [provided by RefSeq, Jul 2008] X X X q22 104285598 105486376 + 103810996 105011822 + 104566315 105767829 + 1580863;6480464;8554872 10757639;10882729;11031108;11587848;12477932;16596202;17265504;20237496;21384559;7959766 26280 B7Z4E1;Q9NP60 ABBA01018899;ABBA01018900;ABBA01018901;ABBA01018902;ABBA01018903;ABBA01018904;ABBA01018905;ABBA01018906;ABBA01018907;ABBA01018908;ABBA01018909;ABBA01018910;ABBA01018911;ABBA01018912;ABBA01018913;ABBA01018914;ABBA01018915;ABBA01018916;ABBA01018917;ABBA01018918;ABBA01018919;ABBA01018920;ABBA01018921;ABBA01018922;ABBA01018923;ABBA01018924;ABBA01018925;ABBA01018926;ABBA01018927;ABBA01018928;ABBA01018929;ABBA01018930;ABBA01018931;ABBA01018932;ABBA01018933;ABBA01018934;ABBA01018935;ABBA01018936;ABBA01018937;ABBA01018938;ABBA01018939;ABBA01018940;ABBA01018941;ABBA01018942;ABBA01018943;ABBA01018944;ABBA01018945;ABBA01018946;ABBA01018947;ABBA01018948;ABBA01018949;ABBA01018950;ABBA01018951;ABBA01018952;ABBA01018953;ABBA01018954;ABBA01018955;ABBA01018956;ABBA01018957;ABBA01018958;ABBA01018959;ABBA01018960;ABBA01018961;ABBA01018962;ABBA01018963;ABBA01018964;ABBA01018965;ABBA01018966;ABBA01018967;ABBA01018968;ABBA01018969;ABBA01018970;ABBA01018971;ABBA01018972;ABBA01018973;ABBA01018974;ABBA01018975;ABBA01018976;ABBA01018977;ABBA01018978;ABBA01018979;ABBA01018980;ABBA01018981;ABBA01018982;ABBA01018983;ABBA01018984;ABBA01018985;ABBA01018986;ABBA01018987;ABBA01018988;ABBA01018989;ABBA01018990;ABBA01018991;ABBA01018992;ABBA01018993;ABBA01018994;ABBA01018995;ABBA01018996;ABBA01018997;ABBA01018998;ABBA01018999;ABBA01019000;ABBA01019001;ABBA01019002;ABBA01019003;ABBA01019004;ABBA01019005;ABBA01019006;ABBA01019007;ABBA01019008;ABBA01019009;ABBA01019010;ABBA01019011;ABBA01019012;ABBA01019013;ABBA01019014;ABBA01019015;ABBA01019016;ABBA01019017;AF181285;AF212016;AF284436;AJ272208;AJ290436;AK290196;AL008642;AL021812;AL022168;AL050401;AL121866;AL121876;AL133272;AL133276;AL133381;AL391070;AL391071;AL442225;AL512445;AMYH02040180;AMYH02040181;AMYH02040182;AMYH02040183;AMYH02040184;AMYH02040185;AMYH02040186;AMYH02040187;AMYH02040188;AMYH02040189;AMYH02040190;AMYH02040191;AMYH02040192;BC104784;BC104786;CH471120;KF459273;KF459274;KF459275;KF459276;KF459277;KF459278;KF459279;KF459280;KF459281;KF459282;KF459283;KF459284;KF459285;KF459291;KF459292;KF459294;KF495990;KF510146;KF510149;KF510150;KF510151;KF510152;KF510153;KF510154;KF510155;KF510156;KF510157;KF510610;KF510616;KF510619;KF510621;KF510623;KF510624;KF510625;NG_012566;NM_017416;Z68328;Z68330;Z68872;Z68908;Z69367;Z69721;Z69724;Z70040;Z70051;Z70224;Z70225;Z70232;Z71182;Z73967;Z74477;Z74619;Z75745;Z75747;Z75957;Z80774;Z81144;Z95333;Z99706 AAF59412;AAF61307;AAG21370;AAI04785;AAI04787;BAF82885;CAB86868;CAB89867;EAX02752;NP_059112;Q9NP60 Hs.675519 1340341;1340505;1658153;1664287;1665277;1671233;1672957;1676346;1694318;1694328;1700204;1701886;1702104;1702620;1723015;1725183;1781222;1781272;1789458;1796092;1850890;2118123;2127523;2129307;2145739;2154994;2158470;2161293;2172496;2175391;5112472;7184817 AF020135;AFMA071TG1;AL008888;DXS1348;DXS1427;DXS1498;DXS17;DXS7523;DXS7621;DXS7627;DXS7784;DXS7799;DXS8075;DXS8112;DXS8182;DXS8236;DXS94;G60457;G65773;IL1RAPL2_1619;L41733;L77280;L77284;L77748;RH103718;RH118890;RH63727;RH66133;WI-15651;stSG49025;stSG81882 IL-1R9;IL1R9;IL1RAPL-2;TIGIRR-1 IL-1 receptor accessory protein-like 2;IL-1-RAPL-2;IL-1R-9;IL-1RAPL-2;IL1RAPL-2-related protein;OTTHUMP00000023775;X-linked interleukin-1 receptor accessory protein-like 2;interleukin 1 receptor 9;interleukin-1 receptor 9;three immunoglobulin domain-containing IL-1 receptor-related 1 APPROVED protein-coding ENSG00000189108 HGNC:5997 02231 300277 REVIEWED 736158 IL1RL1 interleukin 1 receptor-like 1 The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 2 2 2 q12 97129200 97169642 + 102927962 102968497 + 102311502 102352332 + 1580863;5144224;5144236;5144228;5144227;5144237;5144239;5144241;5144245;5144222;5144243;5144242;5144223;5144235;5144238;5144240;5144244;6480464;8554872 11283151;11463601;14555548;17407196;17623648;19179489;19198610;19671251;19852851;19927353;20602249;20804518;20959556;21150878;21281963;21352201 10191101;10491084;10527832;10936050;11076863;11359817;11478810;11531955;12355452;12368275;12477932;12492487;12578875;12665801;14759258;1482686;14991091;15004556;15063762;15340161;15481335;15489334;15489336;15815621;16118232;16286016;16344560;16381901;16426569;18029348;18226917;18311140;18375488;18774397;18794051;18802081;18827826;18941187;18995177;19017513;19074885;19169993;19180518;19247692;19254249;19520469;19756962;19860791;19889931;19898481;19910030;20190752;20237496;20331378;20353565;20363761;20385815;20406635;20435187;20503266;20625511;20800603;20816195;20860503;21102463;21178018;21190867;21515743;21633527;21663467;21682736;21804549;21832049;21871564;21897866;22035779;22104207;22105364;22203232;22233535;22494834;22542450;22819319;22824976;22841163;22865859;22922442;23028483;23042114;23128233;23220272;23300625;23332814;23357301;23469087;23484079;23485578;23488689;23552178;23585867;23615326;23688338;23817569;23817571;23966867;23980170;23999434;24045639;24065602;24075188;24122812;24125409;24388013;8621446;9058198;9207179;9618516;9794420;9811530 9173 C9JSY6;E9PC41;Q01638 AB012701;AB022176;AB029084;ABBA01073899;AC007248;AK291578;AK303389;AL117622;AL553735;AMYH02004435;AMYH02004436;BC012580;BC030975;BQ012352;CH471127;D12763;D12764;DA884586;DB063031;EU181431;EU181432;NM_001282408;NM_003856;NM_016232;NR_104167;XM_006712839 AAH30975;AAY15047;ABW33704;ABW33705;BAA02233;BAA20539;BAA82405;BAA85894;BAF84267;BAG64445;CAL37814;EAX01795;NP_001269337;NP_003847;NP_057316;Q01638;XP_006712902 Hs.66;Hs.731651 1669060;1684072;1855963;2167778 D2S2552;G09503;RH68200;RH94265 DER4;FIT-1;IL33R;MGC32623;ST2;ST2L;ST2V;T1 OTTHUMP00000161342;OTTHUMP00000161343;OTTHUMP00000202992;growth stimulation-expressed;homolog of mouse growth stimulation-expressed;interleukin 1 receptor-related protein;interleukin-1 receptor-like 1 APPROVED protein-coding ENSG00000115602 HGNC:5998 03123 601203 REVIEWED 735979 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities. [provided by RefSeq, Jul 2008] X X X p22.1-p21.3 32732824 34100946 + 28605681 29974467 + 28587564 29956350 + 1302409;1601578;1580863;6480464;7240710;8554872;8699517 10471494;16470793 10757639;10882729;11076863;12477932;12777533;12783849;15123616;15300857;1605216;17110338;18253029;18467032;18801879;19012350;19736351;19913121;20452482;20479760;20628086;20673868;20838585;21271657;21491612;21926414;21933724;22031302;8230164;8826442;8964912 11141 Q7Z2K4;Q9NZN1;X5DNQ7 AB101891;AB101892;AB101893;AB101894;AB101895;AB101896;AB101897;AB101898;AB101899;AB101900;AB101901;AB101902;AB101903;AB101904;AB101905;AB101906;AB101907;AB101908;AB101909;AB101910;AB102650;ABBA01072744;ABBA01072745;ABBA01072746;ABBA01072747;ABBA01072748;ABBA01072749;ABBA01072750;ABBA01072751;ABBA01072752;ABBA01072753;ABBA01072754;ABBA01072755;ABBA01072756;ABBA01072757;ABBA01072758;ABBA01072759;ABBA01072760;ABBA01072761;ABBA01072762;ABBA01072763;ABBA01072764;ABBA01072765;ABBA01072766;ABBA01072767;ABBA01072768;ABBA01072769;ABBA01072770;ABBA01072771;ABBA01072772;ABBA01072773;ABBA01072774;ABBA01072775;ABBA01072776;ABBA01072777;ABBA01072778;ABBA01072779;ABBA01072780;ABBA01072781;ABBA01072782;ABBA01072783;ABBA01072784;ABBA01072785;ABBA01072786;ABBA01072787;ABBA01072788;ABBA01072789;ABBA01072790;ABBA01072791;ABBA01072792;ABBA01072793;ABBA01072794;ABBA01072795;ABBA01072796;ABBA01072797;ABBA01072798;ABBA01072799;ABBA01072800;ABBA01072801;ABBA01072802;ABBA01072803;ABBA01072804;ABBA01072805;ABBA01072806;ABBA01072807;ABBA01072808;ABBA01072809;ABBA01072810;ABBA01072811;ABBA01072812;ABBA01072813;ABBA01072814;ABBA01072815;ABBA01072816;ABBA01072817;ABBA01072818;ABBA01072819;ABBA01072820;ABBA01072821;ABBA01072822;ABBA01072823;ABBA01072824;ABBA01072825;ABBA01072826;ABBA01072827;ABBA01072828;ABBA01072829;ABBA01072830;ABBA01072831;ABBA01072832;ABBA01072833;ABBA01072834;ABBA01072835;ABBA01072836;ABBA01072837;ABBA01072838;ABBA01072839;ABBA01072840;ABBA01072841;ABBA01072842;ABBA01072843;ABBA01072844;ABBA01072845;ABBA01072846;ABBA01072847;ABBA01072848;ABBA01072849;ABBA01072850;ABBA01072851;ABBA01072852;ABBA01072853;ABBA01072854;ABBA01072855;ABBA01072856;ABBA01072857;ABBA01072858;ABBA01072859;ABBA01072860;ABBA01072861;ABBA01072862;ABBA01072863;ABBA01072864;ABBA01072865;ABBA01072866;ABBA01072867;ABBA01072868;ABBA01072869;ABBA01072870;ABBA01072871;ABBA01072872;ABBA01072873;ABBA01072874;ABBA01072875;ABBA01072876;ABBA01072877;ABBA01072878;ABBA01072879;ABBA01072880;ABBA01072881;ABBA01072882;ABBA01072883;ABBA01072884;AC002367;AC003659;AC005748;AC112495;AC121343;AC121344;AC129851;AC129852;AC134149;AF181284;AF284435;AJ243874;AL008710;AL031368;AL031466;AL031575;AL031803;AL049178;AMYH02039084;AMYH02039085;AMYH02039086;AMYH02039087;AMYH02039088;AMYH02039089;AMYH02039090;AMYH02039091;AMYH02039092;AMYH02039093;AMYH02039094;AMYH02039095;AMYH02039096;AMYH02039097;AMYH02039098;AMYH02039099;AMYH02039100;AMYH02039101;AMYH02039102;BC126345;BC126347;CH471074;DN994486;KC877968;KF459039;KF459041;KJ534871;NG_008292;NM_014271;XM_005274441 AAF59411;AAG21369;AAI11919;AAI26346;AAI26348;ADR83342;AHW56511;BAC80450;BAC80451;BAC80452;BAC80453;BAC80454;BAC80455;BAC80456;BAC80457;BAC80458;BAC80459;BAC80460;BAC80461;BAC80462;BAC80463;BAC80464;BAC80465;BAC80466;BAC80467;BAC80468;BAC80469;BAC81119;CAB56046;EAW99046;NP_055086;Q9NZN1;XP_005274498 Hs.658912 1336584;1341963;1647640;1663533;1694822;1701714;1702284;1702542;1703450;1706506;1708828;1710684;1712040;1713405;1723179;1723949;1731219;1747939;1747959;1761115;1773168;1796090;1851915;1853810;2120867;2141238;2151998;2162822;2171468;2175683;2183861;2190493;5021988;7184771;7185693 A008N45;AFM066XF3;AFMA082XB9;BAC_374-A19;DXS1086;DXS1088;DXS1147;DXS1218;DXS7150;DXS7261;DXS7508;DXS7534;DXS7549;DXS9896;G43644;G66845;G66898;IL1RAPL1;IL1RAPL1_153;L29671;RH118463;RH118707;RH118717;RH119559;RH46137;SHGC-145120;SHGC-37351;SHGC-79613;SHGC-81082;SHGC-81223;SHGC-82540;WI-13533;WI-16438 IL1R8;IL1RAPL;MRX10;MRX21;MRX34;OPHN4;TIGIRR-2 IL-1-RAPL-1;IL-1RAPL-1;IL1RAPL-1;OTTHUMP00000023097;X-linked interleukin-1 receptor accessory protein-like 1;interleukin 1 receptor-8;interleukin-1 receptor accessory protein-like 1;mental retardation, X-linked 10;oligophrenin-4;three immunoglobulin domain-containing IL-1 receptor-related 2 APPROVED protein-coding HGNC:5996 02193 300143;300206 REVIEWED 1353187 IL1RL2 interleukin 1 receptor-like 2 The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008] 2 2 2 q12 97004649 97057020 + 102803433 102856462 + 102186973 102240002 + 729063;1580863;6480464;8554872 8898719 10191101;10882729;11466363;12477932;16546408;1833184;19074885;19180518;19684156;19773279;20190752;20237496;20353565;20800603;20959797;21860022;22144259;22315422;23128233;23817569;23966867;23999434;8332913;9325300 8808 C9K0I8;Q9HB29 ABBA01073899;ABBA01073900;AC007248;AC007271;AF284434;AK315334;AMYH02004435;BC107064;CH471127;DQ131903;NM_003854;U49065;XM_005264035;XM_005264036;XM_006712820;XM_006712821;XM_006712822 AAB53237;AAG21368;AAI07065;AAX81989;AAY15046;AAZ38712;BAG37734;EAX01798;NP_003845;Q9HB29;XP_005264092;XP_005264093;XP_006712883;XP_006712884;XP_006712885 Hs.659863 1713737;2131060 RH120754;STS-U49065 IL-1Rrp2;IL-36R;IL1R-rp2;IL1RRP2 IL-1 receptor-related protein 2;IL-36 receptor;OTTHUMP00000161336;interleukin-1 receptor-like 2;interleukin-1 receptor-related protein 2 APPROVED protein-coding ENSG00000115598 HGNC:5999 05150 604512 REVIEWED 1344540 IL1RN interleukin 1 receptor antagonist The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 2 2 2 q14.2 107260159 107276191 + 113868693 113891593 + 113117893 113134016 + 1358741;1580863;1626666;1626667;1626674;1626672;1626673;1626680;1626668;1626664;1626665;1626677;1626671;1626679;4142816;4143183;4143222;4142864;4143181;4143167;4143204;4142853;4143213;4143228;4143178;4142802;4143206;4143177;4143231;4143190;4143191;4143168;4143217;4142861;2311107;4142874;4143192;4143199;4143201;4143202;4143224;4143226;4143174;4143175;4143176;4143179;4143194;4143209;4143216;4143227;4142852;4142862;4142865;4142868;4143198;4143203;4143215;4143225;4143163;4143172;4143180;4143197;4143233;4143193;4143207;4143208;4142871;4143205;4142859;5490209;6480464;6484113;6909171;6909172;4145614;6907368;6997504;6906960;6909150;6907359;7174696;6906925;6906881;6907367;6909131;6907371;6907397;6909119;7174360;6909118;5508454;6907372;6907426;6909151;6909180;6907068;6907407;6906924;6909175;6907128;6909130;6909141;6907081;6909120;6906961;6907102;6907131;6907409;6907413;6909149;7174694;6907403;6909137;6909138;6906929;6909134;6906885;6907070;6907082;6907101;6909135;6907089;7051590;7175061;2316108;7175064;7175255;6906880;6907375;6907412;6907425;6909136;6909139;6909140;6909143;6907376;6907358;6907360;6907369;6907370;6909121;6909165;6909176;6909177;6909178;6906962;6906963;6907427;6907399;6907414;6909132;6906895;6907356;7175060;6907105;6907374;7240710;8549810;8551836;8549802;8551705;8549793;8549796;8551745;8549790;8551708;8549787;8549788;8549808;8549792;8551846;8549801;8549803;6771361;8549807;8551834;8551736;8551833;8551835;8549791;8549794;8551712;8549786;8549797;8549799;8549800;8549804;8549805;7387296;8551704;8551706;8551707;8551710;8551728;8551741;8551794;8549806;8549795;8551847;8551852;8551826;7401210;7401213;7401195;8551854;8551855;8551744;8549789;8551849;8554872;8699517 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3557 P18510;Q9UP87 A49726;A50144;ABBA01074245;AC024704;AF043143;AF057168;AJ005835;AK290898;AK290926;AMYH02004595;AY196903;BC009745;BC068441;BI766516;BN000002;CH471217;HI656437;M55646;M63099;NG_021240;NM_000577;NM_173841;NM_173842;NM_173843;U65590;X52015;X53296;X64532;X84348;XM_005263661;XM_006712497 AAA59138;AAB41943;AAB92268;AAB92269;AAB92270;AAC13499;AAC39672;AAH09745;AAN87150;AAX93278;ABM83492;ABM86707;BAF83587;BAF83615;CAA03191;CAA03210;CAA06730;CAA36262;CAA37386;CAA45832;CAA59087;CAD29879;CBY45189;EAW73621;EAW73622;EAW73623;EAW73624;EAW73625;NP_000568;NP_776213;NP_776214;NP_776215;P18510;XP_005263718;XP_006712560 Hs.81134 1657803;1741741;1742769;2106511;2134331;2153997;2154913;2172700 D2S2718;GDB:182560;GDB:204180;IL1RN_3322;RH11709;RH17495;RH70911;WI-13878 DIRA;ICIL-1RA;IL-1RN;IL-1ra;IL-1ra3;IL1F3;IL1RA;IRAP;MGC10430;MVCD4 IL1 inhibitor;IL1RN (IL1F3);OTTHUMP00000162022;OTTHUMP00000162023;OTTHUMP00000162024;OTTHUMP00000203730;OTTHUMP00000203731;interleukin-1 receptor antagonist protein;intracellular IL-1 receptor antagonist type II;intracellular interleukin-1 receptor antagonist (icIL-1ra);type II interleukin-1 receptor antagonist APPROVED protein-coding ENSG00000136689 HGNC:6000 00978 137215;147679;612628;612852 REVIEWED 1353403 IL20 interleukin 20 The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008] 1 1 1 q32 180290690 180294104 + 207038699 207042568 + 206865354 206869223 + 1580863;5147391;5147393;5147394;5147395;6480464;6907045 16947773;18639518;20722035;21109726 11163236;11470428;12023331;12351624;12477932;12667095;12855566;12975309;14580208;14675174;15340161;15489334;15815689;15857508;15950941;16511554;16645593;16709143;16778121;16908179;17083366;17255956;17263806;17465720;17703412;18061474;18281438;18479293;18758357;18771958;19087313;19258923;19342680;19430480;19481430;19802007;19830738;20061404;20237496;20503287;20976276;21565488;22232181;22930279;22948742;22962576;23000500;23128233;23183096;23207823;23271730;23812620;23892591;24470401 50604 Q9NYY1 ABBA01010194;AC098935;AF224266;AF402002;AMYH02002557;AY358320;AY876922;BC069311;BC069364;BC069398;BC069425;BC069449;BC069487;BC069523;BC069559;BC074948;BC074949;BC117386;BC117390;CH471100;NM_018724;XM_005273152;XM_005273153 AAF36679;AAH69311;AAH69364;AAH69398;AAH69425;AAH69449;AAH69487;AAH69523;AAH69559;AAH74948;AAH74949;AAI17387;AAI17391;AAK84423;AAQ88686;AAW78348;ADR83490;EAW93520;EAW93521;NP_061194;Q9NYY1;XP_005273209;XP_005273210 Hs.272373 IL-20;IL10D;MGC96907;ZCYTO10 OTTHUMP00000034617;OTTHUMP00000034618;cytokine Zcyto10;four alpha helix cytokine;interleukin-20 APPROVED protein-coding ENSG00000162891 HGNC:6002 05728 605619 REVIEWED 730858 IL2 interleukin 2 The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Jul 2008] 4 4 4 q26-q27 120756030 120761055 - 123372625 123377650 - 122451470 122456495 - 1600060;2313574;4889118;5144220;5147902;5147907;5147871;5147910;5147873;5147887;5147908;5147913;5147904;5147905;5147911;5131471;5147870;5147906;5147912;5147915;6480464;6484113;6907045;6480432;8662977;8663450;8663467;8663478;8663440;8663438;8663446;8663482;8662961;8662963;8662964;8663473;8662948;8663471;8693325;8662922;8662972;8662923;8662931;8663439;8663449;8662926;8662978;8663437;8693324;8662951;8663475;8662975;8662974;8693323;8549583;8662959;8662962;8662976;8662980;4142872;8662936;8663451;8662949;8693326;8693327;8663457;8554872;8662973;8693328;8693330;8662947;7364833;8663444;8662939;8662950;8663461;8662971;8693331 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42784;23762317;23772625;23806696;23817571;23857000;23986795;23998235;24012048;24019486;24098138;24154763;24161121;24244449;24313289;24390342;24462799;24465163;24470505;24487795;24489097;24548303;24561192;24610870;24738292;24740510;24829413;25080789;2552026;2793860;2842093;3260003;3262520;3264184;3265909;3491296;3500515;3877307;3925347;6201860;6306584;6312994;6318318;6321163;6324170;6330695;6333684;6403867;6608729;7523014;7529123;7589092;7591871;7642615;7695626;7697734;7722480;7734194;7957556;7963560;7983746;7999066;8049354;8095514;8102828;8118889;8183373;8207793;8262055;8402910;8476561;8493579;8598486;8626603;8706326;8757311;8765022;8769094;8824916;9007200;9045614;9045910;9065434;9184696;9187267;9209269;9226175;9311917;9334723;9516115;9517986;9534962;9712080;9811677 3558 P60568;Q0GK43 A14844;AB451325;AB451454;ABBA01044735;AC022489;AF031845;AF228636;AF359939;AF532913;AMYH02010018;AY283686;AY523040;BC066254;BC066255;BC066256;BC066257;BC070338;CH471056;CQ847559;DQ231169;DQ861285;GM863577;HC025835;HI574002;J00264;K02056;M13879;M22005;M33199;NG_016779;NM_000586;S77834;S77835;S82692;U25676;V00564;X00695;X01586;X61155 AAA59139;AAA59140;AAA59141;AAA70092;AAA98792;AAB46883;AAB86861;AAD14263;AAD14264;AAD48509;AAG53575;AAH66254;AAH66255;AAH66256;AAH66257;AAH70338;AAK26665;AAM97916;AAP35033;AAS17753;ABB20900;ABI20697;ADQ32007;BAG70139;BAG70268;CAA01199;CAA23827;CAA25292;CAA25742;CAH18032;CAT16485;CBH19848;CBX47490;EAX05227;NP_000577;P60568 Hs.89679 1682237;1714155;1775851;1792174;2113772;2171806;5016588;5095293;5117861 D4S3227;GDB:625818;GDB:625821;IL2;IL2_s19;PMC138391P1;RH119686;SHGC-59515;SHGC4-74 IL-2;TCGF OTTHUMP00000164090;T cell growth factor;aldesleukin;interleukin-2;involved in regulation of T-cell clonal expansion;lymphokine APPROVED protein-coding HGNC:6001 00979 147680 REVIEWED 1316471 IL20RA interleukin 20 receptor, alpha This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 6 q23.3 138061119 138106308 - 137321108 137366317 - 136999971 137045180 - 1580863;5037232;6480464;6907045;8554872 18246602 10875937;11163236;11564763;11706020;12351624;12477932;12975309;14574404;14580208;14702039;14764663;15178681;15340161;18480827;19666410;19913121;19926456;20237496;20628086;20800603;22232181;8889548 53832 Q96SH7;Q9UHF4 ABBA01025822;AF184971;AJ420490;AK098312;AK297121;AK307072;AK315293;AL135902;AMYH02014565;AMYH02014566;AMYH02014567;AY358883;BC113574;BC113602;BM713319;CH471051;DN998331;HY009306;NM_001278722;NM_001278723;NM_001278724;NM_014432;XM_006715505;XM_006715506 AAF01320;AAI13575;AAI13603;AAQ89242;ADR83206;BAG37699;BAG59627;EAW47936;EAW47937;EAW47938;NP_001265651;NP_001265652;NP_001265653;NP_055247;Q9UHF4;XP_006715568;XP_006715569 Hs.445868 1796096;2141407;2185859 A004T21;IL20RA_1171;RH46647 CRF2-8;FLJ40993;IL-20R-alpha;IL-20R1;IL-20RA;ZCYTOR7 IL-20 receptor subunit alpha;OTTHUMP00000017280;class II cytokine receptor ZCYTOR7;cytokine receptor class-II member 8;cytokine receptor family 2 member 8;interleukin-20 receptor I;interleukin-20 receptor subunit alpha APPROVED protein-coding ENSG00000016402 HGNC:6003 05729 605620 REVIEWED 1349896 IL20RB interleukin 20 receptor beta IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009] 3 3 3 q22.3 135102983 135156200 + 136676707 136729927 + 136957865 137011085 + 5037232;6480464;6907045 18246602 11163236;11181995;11564763;12351624;12477932;12975309;14580208;15340161;15489334;16703417;17207965;18480827;19043545;19666410;22232181;22802649;24047446;24390342 53833 F8WAV8;F8WC67;H7C5S5;Q6UXL0 ABBA01059106;ABBA01059107;AC011597;AK296832;AK316084;AMYH02007751;AMYH02007752;AMYH02007753;AMYH02007754;AY358305;BC027449;BC033292;BC063696;CH471052;CS109193;CS110198;CS253333;CS465983;HC305538;HI651134;NM_144717;XM_006713665 AAH33292;AAH63696;AAQ88672;ADQ31941;ADZ15701;BAG59402;BAH14455;CAJ09895;CAJ09909;CAJ65781;CAM31821;CBJ18627;CBX89254;EAW79099;EAW79100;EAW79101;EAW79102;EAW79103;EAW79104;NP_653318;Q6UXL0;XP_006713728 Hs.61232 1699566;1778818 RH103384;STS-AA024977 DIRS1;FNDC6;IL-20R2;MGC34923 IL-20 receptor subunit beta;IL-20R-beta;IL-20RB;OTTHUMP00000216468;fibronectin type III domain containing 6;interleukin-20 receptor II;interleukin-20 receptor subunit beta APPROVED protein-coding ENSG00000174564 HGNC:6004 14594 605621 VALIDATED 6893023 IL21-AS1 IL21 antisense RNA 1 4 4 q27 123540141 123610311 + 122618983 122689156 + 12477932 100996941 ABBA01044739;ABBA01044740;AC053545;AMYH02010018;AMYH02010019;AMYH02010020;BC045668;HG497218;NR_104126 Hs.439487 AC053545.3 ncrna ENSG00000227145 HGNC:40299 VALIDATED 1316553 IL21 interleukin 21 This gene encodes a member of the common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natural killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 4 4 4 q26-q27 120916832 120925261 - 123533783 123542212 - 122612628 122621057 - 1580863;5147396;5024938;5147397;5147399;6480464;6907045;8699517 17982108;18802358;18997868;20618701 11081504;11267886;11418623;12244150;12477932;12504082;12759422;12893770;14635054;15100251;15147560;15178704;15207081;15489334;15494482;15546387;15684054;15765404;15919378;16002671;16081794;16138102;16339522;16406655;16424177;16482511;16551679;17015683;17015709;17130531;17142735;17178921;17207965;17241869;17442980;17462506;17509926;17558408;17565991;17624663;17672918;17673207;17698559;17703412;17712836;17713571;17720724;17785794;17888893;17921346;17938255;17947662;17988587;18056361;18182577;18209077;18222514;18259184;18296629;18299268;18311140;18418394;18469800;18482208;18593762;18641314;18684866;18773086;18788946;18805825;18829491;18947877;18981102;19022821;19026702;19073967;19201773;19233474;19234181;19258923;19302705;19404967;19447148;19471255;19523143;19561536;19592276;19592644;19608866;19617351;19648290;19675172;19684581;19693089;19762555;19774453;19797296;19949086;19997967;19998455;20048285;20049410;20072139;20079789;20103765;20112382;20186935;20190192;20190752;20203524;20219786;20233754;20237496;20423656;20444755;20453842;20498205;20503287;20519650;20553587;20571486;20594126;20596022;20817119;20848219;20848568;20871161;20881011;20888735;20962850;21048031;21055341;21064084;21116820;21129248;21175418;21181220;21227406;21269573;21281812;21297633;21304239;21357266;21375519;21391901;21425124;21430229;21441456;21524651;21531891;21648020;21685912;21688385;21692955;21724243;21736561;21768062;21938013;21945025;21959034;21968544;21987656;22009762;22030011;22032620;22038405;22039266;22057994;22077623;22122790;22235133;22238455;22250083;22261234;22279576;22430249;22450323;22491065;22532637;22554193;22649468;22705151;22748465;22752563;22753386;22763176;22840497;22848667;22930279;22948743;22976953;23064011;23097377;23128233;23137515;23172754;23215754;23236436;23278180;23280509;23288348;23296193;23312859;23325890;23354321;23396946;23407551;23479229;23480181;23553807;23571506;23579027;23607532;23645042;23656167;23676143;23710828;23738704;23741351;23817571;23818845;23825648;23940030;24014238;24043893;24126614;24138885;24187103;24214876;24389496;24390342;24409674;24434811;24495300;24746753;8626603 59067 Q9HBE4 ABBA01044738;ABBA01044739;AC053545;AF254069;AMYH02010018;AY763518;BC066258;BC066259;BC066260;BC066261;BC066262;BC069124;CD559460;CD559613;CH471056;CS080568;CS237090;CS450761;CS582814;DQ645417;FB677173;GM619752;HB976773;HC196689;HC203173;HC203434;HC686913;JA104585;NG_031966;NM_001207006;NM_021803 AAG29348;AAH66258;AAH66259;AAH66260;AAH66261;AAH66262;AAH69124;AAU88182;ABG36529;ADQ31944;CAI94500;CAJ47524;CAL81203;CAN87399;CAS03522;CAV33288;CBE74752;CBI70418;CBI85469;CBI85472;CBL93962;CCA63962;EAX05226;NP_001193935;NP_068575;Q9HBE4 Hs.567559 2163888;2167818 D4S1279;G33978 CVID11;IL-21;Za11 OTTHUMP00000164088;interleukin-21;interleukin-21 isoform APPROVED protein-coding ENSG00000138684 HGNC:6005 05650 605384;615767 REVIEWED 6766418 IL21R-AS1 IL21R antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 16 16 16 p12.2 26236314 26242043 - 27458990 27464714 - 27447669 27453393 - 8554872 14702039 283888 ABBA01017156;AC002303;AK093371;AMYH02031767;HG507886;NR_037158 Hs.660935 1848019;2180615;5022578;5037552 D1S1423;D8S2279;RH47993;SHGC-60659 AC002303.5 APPROVED ncrna ENSG00000259954 HGNC:27551 VALIDATED 1312687 IL21R interleukin 21 receptor The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] 16 16 16 p11 26190799 26240689 + 27413483 27463363 + 27402162 27452042 + 1600111;1580863;6480464;6892930;6892934;6892937;6892941;6892928;6892933;6892964;6892695;6892963;6892924;6892927;6892931;6892932;6892939;6482789;6892935;6892938;6892940;6892925;6892926;6892942;6892962;6907045;7240710;8699517;8554872 11821949;18254984;18353312;18546146;19075398;19164519;19208913;19342640;19478140;19644854;20057909;20072140;20424514;21281812;21593413;21596854;21724243;22021194;22147555;22238461;22530560 11016959;11081504;11418623;12477932;12700598;12975309;15146416;15340161;15489334;15751077;16260592;16344560;16391014;16867043;17015683;17032244;17462506;17624663;19230867;19322899;19617351;19851296;19874204;20059963;20193734;20198315;20237496;21048031;21524651;21531891;22032620;22235133;23098230;23296193;23354321;23396946;23440042;23817569;23830147;7566098 50615 Q9HBE5 AA354979;ABBA01017156;AC002303;AC004525;AF254067;AF269133;AK292663;AK312825;AMYH02031766;AMYH02031767;AW576566;AY064474;AY358826;BC004348;BC007946;BQ215949;BX401767;CH471145;CS080576;CS450755;DB115361;FB702445;HB976766;HC005802;HC196703;HC202963;HC203224;HC686703;HI574132;HI574134;HI574136;NG_012222;NM_021798;NM_181078;NM_181079 AAG23419;AAG29346;AAH04348;AAH07946;AAL39168;AAQ89185;ABM87726;ABW03862;BAF85352;BAG35682;CAI94502;CAL81201;CAS03334;CBE74748;CBG76750;CBI70421;CBI85467;CBI85470;CBL93960;CBX47555;CBX47556;CBX47557;EAW55746;EAW55747;EAW55748;EAW55749;NP_068570;NP_851564;NP_851565;Q9HBE5 Hs.210546 1796098;1848019;2180615 IL21R_763;RH47993;SHGC-60659 CD360;IL-21R;MGC10967;NILR IL-21 receptor;OTTHUMP00000162453;interleukin-21 receptor;novel interleukin receptor APPROVED protein-coding ENSG00000103522 HGNC:6006 05649 147050;605383;615207 REVIEWED 1352751 IL22RA1 interleukin 22 receptor, alpha 1 The protein encoded by this gene belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 22775750 22799094 - 24446261 24469783 - 24119771 24143285 - 5147411;6480464;6907045;8554872 19393422 10875937;11035029;12477932;17906500;18376313;18599299;18675809;18675824;18976975;19240061;19285080;19632985;19666410;19731362;20237496;20671117;20971950;21690049;21988832;22898922;23512698;23659670;23688404;24132627;8125298 58985 Q8N6P7 ABBA01059898;ABBA01059899;AF286095;AK226001;AK292204;AK304454;AK308522;AK313971;AL590683;AL591178;AMYH02000517;BC014096;BC029273;CH471134;NM_021258 AAG22073;AAH29273;ADZ15430;BAF84893;BAG36686;BAG65271;EAW95111;NP_067081;Q8N6P7 Hs.110915 1796100 IL22R_154 CRF2-9;IL22R;IL22R1 IL-22 receptor subunit alpha-1;IL-22R-alpha-1;IL-22RA1;OTTHUMP00000003073;cytokine receptor class-II member 9;cytokine receptor family 2 member 9;interleukin 22 receptor;interleukin-22 receptor subunit alpha-1;zcytoR11 APPROVED protein-coding ENSG00000142677 HGNC:13700 16108 605457 REVIEWED 1344987 IL22 interleukin 22 ENCODES a protein that exhibits cytokine activity (inferred); INVOLVED IN cell-cell signaling (inferred); response to glucocorticoid (inferred); PARTICIPATES IN Jak-Stat signaling pathway; ASSOCIATED WITH Asthma; Mycobacterium Infections; Rhinitis; FOUND IN extracellular region (inferred); extracellular space (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; prostaglandin E2; simvastatin 12 12 12 q15 68306041 68311297 - 68642025 68647379 - 68248245 68253599 - 1580863;5147412;5147402;5147405;4888524;5147403;5147404;5147407;5147409;5147401;5147406;2311529;5147414;6480464;6907045 16951323;19269041;19664145;19864591;20463292;20498020;20504940;21178015;21297073;21535180;21767990;21789181 10657629;10875937;10954742;11035029;11197690;11390453;11481447;11856845;12087100;12176383;12477932;12975309;15039135;15122762;15340161;15489334;15765404;16143135;16537974;17182579;17204547;17207965;17442982;17703412;17845543;18191408;18264110;18391423;18509351;18599299;18615114;18675809;18675824;18927282;18978771;19046958;19122664;19244159;19258923;19285080;19449309;19469905;19479869;19481975;19620772;19811428;19830738;19920355;20032993;20061404;20065946;20220564;20237496;20305686;20339910;20503287;20671117;20824812;20864149;20971950;20976193;21098725;21106435;21124836;21148041;21214545;21310921;21384158;21391996;21465510;21469124;21487830;21518800;21573786;21593004;21600206;21632708;21640395;21645026;21652269;21674558;21681565;21708106;21741035;21762495;21862302;21946664;21979002;21984702;21996293;21998459;22034096;22038405;22048239;22053597;22104996;22137028;22170067;22213179;22355539;22417743;22537848;22589261;22696687;22795370;22851227;22854709;22909798;22928014;23007230;23091305;23128233;23153456;23158008;23174657;23178750;23223131;23244505;23274784;23313291;23372820;23379788;23395647;23405899;23445169;23448944;23474919;23512698;23518141;23527071;23617779;23630362;23664643;23674871;23692034;23695510;23726764;23727477;23746568;23774470;23853597;23855297;24001799;24040001;24040442;24041785;24132627;24133578;24164838;24283210;24286492;24342613;24390134;24404171;24459233;24520123;24579469;24599919;24610014;24677193;24816405;24937671;25024136 50616 Q6NZ84;Q9GZX6 ABBA01026559;AC007458;AC022511;AF279437;AF387519;AJ277247;AJ277248;AMYH02026693;AX151713;AX179578;AX468783;AY358890;BC066263;BC066264;BC066265;BC066266;BC067509;BC067510;BC069112;BC069308;BC070261;CD559617;CH471054;CQ889879;CQ889941;CS425140;CS719533;HC679523;HC888910;JA104587;NM_020525;XM_005268929 AAG22064;AAH66263;AAH66264;AAH66265;AAH67509;AAH67510;AAH69112;AAH69308;AAH70261;AAK62468;AAQ89249;ADQ32907;CAC06085;CAC19409;CAC42593;CAC49973;CAD42564;CAH61624;CAH61629;CAL60104;CAP40185;CBL86572;CBM42922;CCA63963;EAW97182;NP_065386;Q9GZX6;XP_005268986 Hs.287369 1796102 IL22_1342 IL-21;IL-22;IL-D110;IL-TIF;IL21;MGC79382;MGC79384;TIFIL-23;TIFa;zcyto18 IL-10-related T-cell-derived inducible factor;IL-10-related T-cell-derived-inducible factor;ILTIF;OTTHUMP00000240117;cytokine Zcyto18;interleukin 21;interleukin-22 protein-coding ENSG00000127318 HGNC:14900 05621 605330 VALIDATED 731906 IL23A interleukin 23, alpha subunit p19 This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 56386015 56387546 + 56732663 56734194 + 56338879 56340410 + 5037240;6480464;6484113;6907045 19935773 11114383;11390512;12023369;12162874;12421946;12477932;12525561;12671732;12847224;12975309;14707118;15070757;15114670;15265908;15486065;15489334;15583831;15731058;16300465;16339539;16341674;16342235;16424222;16482511;16670765;16688182;16751425;16772281;17007011;17021762;17182554;17187052;17207965;17236132;17564777;17606463;17763202;17888176;17945537;18029348;18054783;18180107;18190588;18311793;18319400;18373953;18408745;18490716;18497880;18579762;18606709;18675459;18680750;18708069;18752933;18754016;18786233;18825388;19034457;19040306;19088061;19169254;19201028;19247658;19262574;19264456;19322214;19333939;19426392;19431078;19479806;19542049;19542431;19587005;19605880;19657406;19705136;19797506;19845828;19900478;19915944;19929695;20027291;20054003;20071030;20106535;20154336;20331378;20428758;20603238;20624950;20682175;20682672;20701979;20840651;20873540;20886035;20953190;20956338;21116820;21145044;21145111;21161669;21227898;21231819;21302302;21387004;21402701;21515794;21516111;21518507;21531892;21547355;21560441;21576383;21623003;21641076;21670317;21740501;21747388;21931205;22003203;22127978;22144400;22174449;22177788;22209993;22262980;22298331;22417709;22505413;22559912;22621182;22678234;22683003;22688014;22705151;22759859;22851868;22909235;22955875;22965992;23050001;23053983;23116756;23121980;23250909;23268293;23327801;23376980;23388728;23393581;23425136;23472658;23489789;23563201;23579029;23673284;23679818;23740229;23755218;23825942;23910013;24040001;24054330;24067979;24144296;24224652;24577500;24643777;8570611 51561 Q9NPF7 AB030000;AB030001;ABBA01008423;AC025574;AF301620;AJ506993;AMYH02026567;AY359083;BC066267;BC066268;BC066269;BC067511;BC067512;BC067513;BM842783;BM851337;CH471054;CS498403;HI574128;JA104589;NM_016584;U38443 AAG37232;AAH66267;AAH66268;AAH66269;AAH67511;AAH67512;AAH67513;AAQ89442;ADQ32075;BAA93686;BAA93687;CAD45088;CAM82731;CBX47553;CCA63964;EAW96933;NP_057668;Q9NPF7 Hs.382212;Hs.98309 1678959;1794584;5492773 PMC321570P2;RH92829;UniSTS:482436 IL-23;IL-23A;IL23P19;MGC79388;P19;SGRF IL-23 subunit alpha;IL-23-A;IL-23p19;JKA3 induced upon T-cell activation;interleukin 23 p19 subunit;interleukin-23 subunit alpha;interleukin-23 subunit p19;interleukin-six, G-CSF related factor APPROVED protein-coding ENSG00000110944 HGNC:15488 12026 605580 REVIEWED 1351657 IL23R interleukin 23 receptor The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 65922104 66015428 + 67604590 67725662 + 67138907 67259979 + 5037240;5108250;5096624;6480464;6484113;6907045;7240710;8549565;8549602;8549632;7421521;8549554;8549572;8549564;8549631;8549603;8549630;8549601;8549550;8549568;8549569;8549574;8549596;8549604;8549605;8549545;8549549;8549566;8554872 17068223;17587057;18073300;18368064;18647855;18713787;19021011;19035472;19175939;19522770;19877036;19918037;19935773;20375120;20978829;21110900;21193288;21846945;22262980;22483685;22663548;23093364;23696856;24547735 11114383;12023369;12421946;12477932;15114670;15489334;16372191;16710414;16751425;17236132;17309073;17337463;17435756;17447842;17484863;17508420;17534574;17554300;17606463;17618837;17661912;17678723;17678845;17703412;17786191;17804789;17854611;17877509;17888176;17894849;17901940;17952073;17993580;18022867;18030204;18034172;18047540;18075513;18082575;18088064;18162085;18164077;18166373;18180107;18199597;18200510;18209723;18219280;18338763;18369459;18383179;18383363;18383521;18438406;18470928;18499543;18512797;18521914;18521924;18560602;18587394;18615094;18650833;18698678;18715515;18754016;18758464;18779654;18800148;18824555;19034457;19088061;19103525;19103559;19122664;19165485;19169254;19174780;19189980;19235913;19235914;19240061;19258923;19262523;19262574;19276991;19294505;19306001;19317742;19334001;19369463;19422935;19525409;19590455;19690863;19700857;19705136;19757086;19760754;19861958;19895338;19896081;19913121;19915572;19917163;20014019;20024904;20062062;20066736;20082483;20082850;20116410;20157760;20173782;20177049;20192940;20197757;20228799;20367798;20379614;20380008;20428899;20485703;20503287;20537165;20541026;20549515;20570966;20607725;20622878;20622879;20622911;20628086;20846217;20863779;20875477;20886065;20953190;20962850;21068102;21072187;21076058;21102463;21138378;21151126;21151597;21155887;21206965;21228792;21253733;21281511;21285166;21295022;21297633;21364948;21484795;21508257;21547355;21606346;21672939;21717520;21743469;21896776;21926348;22019778;22022372;22089529;22128865;22130325;22144400;22154103;22195034;22262659;22293688;22333126;22346247;22378604;22412388;22426692;22512642;22695161;22706445;22718508;22735800;22735941;22908971;22936669;22955875;22984500;23042301;23053963;23054009;23093722;23128233;23137879;23164360;23239971;23240095;23250909;23274341;23333304;23535247;23563201;23564312;23606107;23656167;23662788;23673666;23754344;23767933;23807368;23818276;23840727;23844553;23850713;23955419;24068945;24076440;24168842;24211680;24286189;24312163;24313807;24332578;24611330;24643836;24703098 149233 H7BZ42;Q5VWK5 ABBA01074519;ABBA01074520;ABBA01074521;ABBA01074522;AF461422;AL109843;AL389925;AM990313;AM990314;AM990315;AM990316;AM990317;AM990318;AM990319;AM990320;AM990321;AM990322;AM990323;AM990324;AM990325;AM990326;AM990327;AM990328;AM990329;AM990330;AM990331;AM990332;AM990333;AM990334;AM990335;AM990336;AM990337;AMYH02001199;AMYH02001200;AY937250;AY937251;AY937252;AY937253;AY937254;AY937255;BC016829;BC040720;BC142955;CH471059;FM212237;FM212238;FM212239;FM212240;FM212241;NG_011498;NM_144701;XM_005270512;XM_005270516;XM_005270517 AAH16829;AAH40720;AAI66698;AAM44229;AAY18345;AAY18346;AAY18347;AAY18348;AAY18349;AAY18350;CAQ51232;CAQ51233;CAQ51234;CAQ51235;CAQ51236;CAQ51237;CAQ51238;CAQ51239;CAQ51240;CAQ51241;CAQ51242;CAQ51243;CAQ51244;CAQ51245;CAQ51246;CAQ51247;CAQ51248;CAQ51249;CAQ51250;CAQ51251;CAQ51252;CAQ51253;CAQ51254;CAQ51255;CAQ51256;CAR79024;CAR79025;CAR79026;CAR79027;CAR79028;EAX06501;EAX06502;NP_653302;Q5VWK5;XP_005270569;XP_005270573;XP_005270574 Hs.677426 2178554 AL009967 IL-23 receptor;OTTHUMP00000010660;interleukin-23 receptor APPROVED protein-coding ENSG00000162594 HGNC:19100 16249 605606;607562;612261 REVIEWED 1322028 IL22RA2 interleukin 22 receptor, alpha 2 This gene encodes a member of the class II cytokine receptor family. The encoded soluble protein specifically binds to and inhibits interleukin 22 activity by blocking the interaction of interleukin 22 with its cell surface receptor. The encoded protein may be important in the regulation of inflammatory response, and has been implicated in the regulation of tumorigenesis in the colon. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013] 6 6 6 q23.3 138204971 138234799 - 137464957 137494785 - 137143820 137173648 - 1580863;6480464;6907045 11390453;11390454;11481447;11607789;12477932;12700595;12975309;14574404;15201862;15340161;18675824;19193995;19240061;19285080;19393422;19926456;20237496;21041731;21833088 116379 Q969J5 ABBA01025818;ABBA01025819;AI824338;AJ297262;AJ313161;AJ313162;AL050337;AMYH02014568;AY040566;AY040567;AY040568;AY044429;AY358111;AY358737;AY779023;BC125167;BC125168;CH471051;CQ889886;CQ889948;CS425147;CS719540;HC888917;NM_052962;NM_181309;NM_181310 AAI25168;AAI25169;AAK85714;AAK85715;AAK85716;AAK91775;AAQ88478;AAQ89097;AAV31775;CAC83097;CAC85634;CAC85635;CAH61626;CAH61631;CAL60107;CAP40188;CBM42925;EAW47933;EAW47934;EAW47935;NP_443194;NP_851826;NP_851827;Q969J5 Hs.126891 1785826;1786152;1794782;1797742 IL22RA2_1362;PMC55483P1;SHGC-106104;SHGC-79445 CRF2-10;CRF2-S1;CRF2X;IL-22BP;IL-22R-alpha-2;IL-22RA2;MGC150509;MGC150510;ZCYTOR16 IL-22 receptor subunit alpha-2;OTTHUMP00000017282;OTTHUMP00000017283;OTTHUMP00000017284;class II cytokine receptor;cytokine receptor class-II member 10;cytokine receptor family 2 member 10;cytokine receptor family type 2, soluble 1;interleukin 22-binding protein;interleukin-22 receptor subunit alpha-2;interleukin-22-binding protein APPROVED protein-coding ENSG00000164485 HGNC:14901 05973 606648 REVIEWED 1344819 IL25 interleukin 25 The protein encoded by this gene is a cytokine that shares sequence similarity with interleukin 17. This cytokine can induce NF-kappaB activation, and stimulate the production of interleukin 8. Both this cytokine and interleukin 17B are ligands for the cytokine receptor IL17BR. Studies of a similar gene in mice suggest that this cytokine may be a pro-inflammatory cytokine favoring the Th2-type immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 14 14 14 q11.2 3704729 3708323 + 23842018 23845612 + 23372809 23376403 + 1580863;6480464;8554872 11058597;11714825;11754819;12239140;12477932;12975309;15340161;15489334;16226712;16522458;16950278;17207965;17635955;17719653;17889290;19095584;19129540;19329997;19968632;20237496;20492545;20729468;20861853;20944558;21205894;21570719;21980299;22266274;22691357;23429464;23564603;23590308;23657503;23810766;23957336;24247484;24323357;24344271;24746746 64806 Q9H293 ABBA01061320;AF305200;AF458059;AF461739;AL049829;AMYH02028869;AY359127;BC069565;BC104929;BC104931;CH471078;FB726952;GN034129;JA104593;NM_022789;NM_172314 AAG40848;AAH69565;AAI04930;AAI04932;AAL57622;AAN39038;AAQ89484;ACE86659;ACE87341;ADQ32926;CAT03415;CAX36792;CCA63966;EAW66161;EAW66162;NP_073626;NP_758525;Q9H293 Hs.302036 1796084 IL17E_757 IL-17E;IL-25;IL17E OTTHUMP00000027946;OTTHUMP00000246238;interleukin 17E;interleukin-17E;interleukin-25 2315792 GLUCO171_H APPROVED protein-coding ENSG00000166090 HGNC:13765 05742 605658 REVIEWED 1605405 IL24 interleukin 24 This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 1 q32 180322323 180329018 + 207070630 207077484 + 206897443 206904139 + 5147421;5024938;6480464;6484113;6907045 19399182;20618701 10942517;11163236;11704829;11706020;11844832;12055212;12085234;12114539;12182458;12351624;12395925;12477932;12485618;12533668;12606943;12811827;12907143;12907144;15273727;15304100;15334067;15340161;15342556;15383566;15489334;15564140;15580305;15709189;15815689;15851011;16264231;16313301;16912197;17083366;17178884;17178890;17263806;17305874;17627414;17703412;17828282;18025283;18029348;18061474;18278464;18281515;18281516;18376144;18511292;18599461;18704311;18723497;18842498;18941194;19056673;19087313;19276652;19535621;19666410;19734147;19802007;19916746;19965640;20061404;20072629;20103619;20163249;20179672;20187794;20189296;20216471;20383178;20406981;20501829;20503287;20545760;20858700;20962850;20976276;21109977;21282359;21448421;21524313;21732348;21787878;21843952;21922126;21931671;21988832;22248086;22475191;22917968;23063979;23078624;23110359;23128233;23383108;23468528;23546515;23720015;23722307;23768573;23772146;23982423;23988449;24084981;24211183;24270662;24282278;24527982;8545104;8799171;9826712 11009 E7ER64;E7ETP6;Q13007 ABBA01010194;AC098935;AF217405;AF235005;AF276916;AI521306;AMYH02002557;AW949784;AY062931;AY237723;AY641440;AY641441;BC009681;BP222545;BP222651;BT007156;CH471100;CS126739;CS284546;GN337314;GN368442;NG_029565;NM_001185156;NM_001185157;NM_001185158;NM_006850;U16261;XM_006711138 AAA91780;AAG41401;AAH09681;AAK52589;AAL34146;AAO67513;AAP35820;AAV52800;AAV52801;ABM81582;ABM81583;ABM84762;ABM84769;CAJ18816;CAJ98561;CAY39296;CAY86021;EAW93518;EAW93519;NP_001172085;NP_001172086;NP_001172087;NP_006841;Q13007;XP_006711201 Hs.58831;Hs.744273 1796104;2167433 IL24_765;SHGC-76250 C49A;FISP;IL-24;IL10B;MDA7;MOB5;Mob-5;ST16;mda-7 IL-4-induced secreted protein;OTTHUMP00000034620;OTTHUMP00000034621;OTTHUMP00000216789;OTTHUMP00000216790;interleukin-24;melanocyte-associated Mda-7;melanoma differentiation association protein 7;melanoma differentiation-associated gene 7 protein;suppression of tumorigenicity 16 (melanoma differentiation) APPROVED protein-coding ENSG00000162892 HGNC:11346 04995 604136 REVIEWED 1346180 IL26 interleukin 26 This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri. [provided by RefSeq, Jul 2008] 12 12 12 q15 68259174 68283591 - 68595129 68619571 - 68201349 68225791 - 1580863;6480464;6907045 10729163;11197690;11528524;12477932;14558082;14764663;15178681;15489334;17207965;17703412;18332247;18483078;19122664;19258923;20176734;20228799;20237496;20379614;20503287;21297633;21832049;22622197;23055831;23128233;23704922;23875025 55801 Q9NPH9 ABBA01026559;ABBA01026560;AC007458;AJ251549;AJ251550;AJ251551;AMYH02026693;AY509906;BC066270;BC066271;CH471054;NM_018402 AAH66270;AAH66271;AAR87776;ADQ32042;CAB76942;CAB77049;EAW97181;NP_060872;Q9NPH9 Hs.272350 1695408;1715839;2107223;2190383 HBDA_1;IL26_3056.2;RH119613;SHGC-68525 AK155;IL-26 OTTHUMP00000240112;interleukin-26 APPROVED protein-coding ENSG00000111536 HGNC:17119 16140 605679 REVIEWED 1343577 IL27 interleukin 27 The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [provided by RefSeq, Jul 2008] 16 16 16 p11 27685614 27693084 + 28510683 28518155 - 28499362 28506834 - 1580863;5128485;5128491;5128477;5128483;5128484;4145651;5128479;6480464;6484113;8554872 17318299;18554158;19124731;19542437;20705635;20817868 12121660;12477932;12734330;14657353;14764690;15793300;16670765;16751375;17068156;17207965;17703412;17985330;18167155;18178151;18191724;18424756;18453571;18482209;18557702;19124747;19148899;19258923;19380822;19430480;19523673;19549909;19556424;19582813;19620301;19625647;19657406;19686419;19798410;19915574;19924133;20112358;20176734;20301193;20375623;20416175;20435369;20435892;20454646;20503287;20519510;20604932;20952070;20971923;20974984;21102463;21115047;21182076;21357266;21360515;21385171;21420486;21482740;21545428;21592822;21622862;21795063;21829393;22021194;22040814;22069308;22210084;22230324;22343630;22430249;22621182;22656398;22678908;22678911;22701040;22825627;22837488;22863719;22876110;22911112;22965735;23049843;23086758;23091017;23101722;23128233;23209286;23240078;23280240;23294976;23333920;23335749;23395794;23452095;23464355;23502338;23645091;23711856;23727477;23731956;23842867;23849453;23890319;23891538;23904441;23937109;23958647;24028178;24155891;24277453;24285453;24337382;24352695;24448601;24554774;24771852 246778 H3BQY2;Q8NEV9 ABBA01043652;AC138894;AMYH02031790;AY099296;BC062422;CH471279;EF064720;JA104595;NM_145659 AAH62422;AAM34498;ABK41903;ADQ32049;CCA63967;EAW52277;NP_663634;Q8NEV9 Hs.528111 IL-27;IL-27-A;IL-27A;IL27-A;IL27A;IL27p28;IL30;MGC71873;p28 IL-27 p28 subunit;IL-27 subunit alpha;OTTHUMP00000122516;interleukin 30;interleukin-27 subunit alpha;interleukin-30 APPROVED protein-coding ENSG00000197272 HGNC:19157 16307 608273 REVIEWED 1312815 IL27RA interleukin 27 receptor, alpha In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008] 19 19 19 p13.11 14036058 14057825 + 14142552 14163731 + 14031740 14052919 + 5128480;5128477;5128486;5128496;6480464;6484113;8554872 15749890;16081811;19354069;20705635 11057672;12121660;12477932;12734330;12975309;14764690;15489334;17703412;18003935;19258923;19386761;19549909;20503287;21139048;21631431;22312192;22936014;24771852;9600072 9466 Q6UWB1 ABBA01029695;ABBA01029696;ABBA01029697;AC022098;AF053004;AF106912;AF265242;AI983115;AMYH02035597;AMYH02035598;AW298502;AY358876;BC028003;CH471106;EF064719;FB507086;HH829741;NM_004843 AAC39755;AAG26090;AAG27297;AAH28003;AAQ89235;ABK41902;ABM81977;ABM85156;CAV32862;CBX32720;EAW84389;EAW84390;NP_004834;Q6UWB1 Hs.132781;Hs.352155 1797038;1847250 D19S662E;WSX1_1318 CRL1;IL-27R-alpha;IL-27RA;IL27R;TCCR;WSX1;zcytor1 IL-27 receptor subunit alpha;IL-27R subunit alpha;T-cell cytokine receptor type 1;class I cytokine receptor;cytokine receptor WSX-1;cytokine receptor-like 1;interleukin-27 receptor subunit alpha;type I T-cell cytokine receptor APPROVED protein-coding ENSG00000104998 HGNC:17290 09247 605350 REVIEWED 737611 IL2RB interleukin 2 receptor, beta The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 21322955 21347014 - 37521878 37552414 - 37125838 37149922 - 1580863;5147447;5024942;5684377;6480464;5684380;6484113;6907045;8554872 12196288;18641329;20728947;20860503 10214954;10373548;10514520;10591208;10602027;10825200;11035066;11133764;11238664;11359922;11463390;11750878;11856346;11886175;12133952;12200137;12230826;12477932;12676936;12960323;1394441;14680494;15063762;15191519;15350462;15461802;15489334;1557373;16084898;16284400;16293754;16380905;1639773;16477002;17108990;17115417;17152005;17703412;18299274;18445679;18490721;18589435;18592269;18715339;18774388;18791162;18818748;18829468;19019335;1915291;19240061;19258923;19471255;19527514;19602517;19615332;1973832;19773451;19817957;19822714;19913121;19923221;19946888;20049410;20140262;20179739;20219786;20237496;20379614;20424473;2047859;20495002;20498205;20503287;20585888;20628086;20811626;21345943;21362618;21653640;21674833;21829393;21834013;21839273;21865161;21984699;22558434;22573796;2303462;2315327;2333293;23341462;23418630;23512675;23628622;23676143;23926072;23972291;24057671;24112992;24390342;24523387;2467293;2785715;2843775;3925551;7529123;7600304;7641685;7693677;7734194;7736574;7973658;7973659;8026467;8041779;8049354;8294403;8483935;8493579;8514792;8648694;8700888;9176231;9341758;9520455;9553136;9637477;9774657 3560 B0QYC0;B0QYC1;B0QYC2;H7C1H9;P14784 AA834613;ABBA01055460;AF517934;AK312860;AL022314;AMYH02038330;AW193701;BC025691;CH471095;CR456506;M26062;NM_000878 AAA59143;AAH25691;AAM54040;ABM85025;BAG35712;CAG30392;CAK54535;CAK54834;EAW60144;NP_000869;P14784 Hs.474787 1338932;1688066;1729029;1732071;1742011;1742085;2146022;2161752 D22S1045;D22S450;GDB:180405;GDB:188757;GDB:190926;Il2rb;RH17685;RH27828 CD122;IL-2RB;IL15RB;P70-75;p75 CD122 antigen;IL-2 receptor subunit beta;IL-2R subunit beta;OTTHUMP00000197764;OTTHUMP00000197767;high affinity IL-2 receptor beta subunit;high affinity IL-2 receptor subunit beta;interleukin 15 receptor, beta;interleukin 2 receptor, beta chain;interleukin-2 receptor subunit beta APPROVED protein-coding ENSG00000100385 HGNC:6009 00896 146710 REVIEWED 731533 IL2RG interleukin 2 receptor, gamma The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010] X X X q13.1 70681159 70685386 - 70327254 70331481 - 71107404 71111631 - 1600009;1580863;6480464;6484113;6907045;7240710;8554872;8699517 7557965 10662798;10825200;11418623;11418669;11426455;11750878;11856346;11858939;11886175;12036606;12200137;12207328;12242343;12370829;12477932;12504082;14680494;14726805;15489334;15702055;16004964;16293754;1631559;16477002;17082603;17363735;17474147;17703412;18417356;18589435;18791162;18829468;19011158;19234229;19258923;19494261;19615332;19734221;1976256;19802382;19812686;19859091;19923221;19946888;20237496;20301584;20503287;20592278;21715655;21831415;21906983;21988832;22039266;22223761;22363690;22505724;22645657;22737248;2315327;23341462;23403317;23683512;23733874;23940110;24771849;2843775;7529123;7641685;7668284;7706294;7860773;7883965;7937790;7973658;7973659;8027558;8041779;8049354;8088810;8266076;8266077;8266078;8299698;8378320;8401490;8462096;8493579;8514792;8568232;8643566;8648694;8900089;9010926;9150740;9169421;9326644;9341758;9399950;9637477;9797872;9799097 3561 D6R964;D6RBW5;D6RDW9;H0Y8J6;P31785;Q5FC09;Q5FC10 AB102793;AB102794;AB102795;AB102796;AB102797;ABBA01067666;ABBA01067667;AK298656;AK314932;AL590764;AMYH02039671;AY692262;BC014972;BC071710;CH471132;D11086;D16358;DC345219;GN051377;GN061222;L12183;L19546;NG_009088;NG_021141;NM_000206 AAA59145;AAC37524;AAH14972;AAT85803;ABM86377;ABW03788;BAA01857;BAA03861;BAD89384;BAD89385;BAD89386;BAD89387;BAD89388;BAG37438;BAH12839;CAX52142;CAX52189;EAX05319;NP_000197;P31785 Hs.84 1648433;1701852;1745431;2121555;2162605;5015927;7183965;7183966 GDB:375720;GDB:607640;IL2RG;RH11053;RH17366;SGC35235 CD132;CIDX;IL-2RG;IMD4;P64;SCIDX;SCIDX1 CD132 antigen;IL-2 receptor subunit gamma;IL-2R subunit gamma;OTTHUMP00000023489;combined immunodeficiency, X-linked;common cytokine receptor gamma chain;common gamma-chain;cytokine receptor common subunit gamma;gamma(c);gammaC;interleukin 2 receptor, gamma (severe combined immunodeficiency);interleukin 2 receptor, gamma chain;interleukin-2 receptor subunit gamma;severe combined immunodeficiency APPROVED protein-coding ENSG00000147168 HGNC:6010 02391 300400;308380;312863 REVIEWED 735947 IL2RA interleukin 2 receptor, alpha The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009] 10 10 10 p15-p14 5982579 6033743 - 6052657 6104333 - 6010694 6062370 - 1600117;1580863;2311527;2311528;2311529;2311530;2311526;5147437;5147445;4891500;5147436;5147443;5147438;6480464;6484113;6907045;7240710;8554872;8699517 18503494;19106270;19119414;19125193;19269041;20525707;20639494;21072213;21309737;21377197;21436245;9096364 10602027;10815800;10825200;10848593;11416131;11485747;11856346;11886175;11960393;11986281;12171778;12200381;12230826;12374985;12486319;12525482;12581498;12698200;12970897;1394441;14680494;1511461;15123239;15197226;15263076;15328201;15353339;15365604;15503821;15617342;15619904;15649306;15713622;15714205;15731180;15776395;15784911;15885081;15964425;15972448;15985167;16003241;16034095;16060678;16087671;16126178;16226465;16293754;16339919;16380476;16385451;16410445;16477002;16491350;16690518;16698664;16750991;16758122;1685671;16889540;16911870;16920911;1693645;16955142;17062437;17074352;17152005;17175221;17205058;17237241;17275508;17294624;17302593;17304105;17313446;17371467;17372588;17389235;17395754;17420929;17431094;17462597;17523134;17543960;17591854;17604883;17615291;17645467;17660530;17661330;17676041;17703412;17712998;17878392;17944116;17975141;17981806;17985312;18021968;18059223;18089681;18162781;18174382;18204854;18261176;18287585;1832084;18354419;18376303;18390743;18451325;18556337;18593762;18641303;18641304;18650830;18715339;18780166;18818748;18978792;19019335;19034005;19073967;19077408;19116909;19139102;19141347;19155502;19155519;19192224;19231135;19240061;19258923;19264985;19265545;19289595;19303058;19327240;19375175;19375249;19377213;19430480;19447046;19471255;19499289;19505389;19506219;19522766;19523791;19525953;19525955;19527514;19565500;19637754;19664391;19667946;19667950;19701192;19715524;19734224;1976256;19794070;19798683;19822714;19833889;19834503;19849846;19865102;19879194;19913121;19923221;1993646;19951265;19956099;19956753;20032294;20033399;20063526;20140262;2016116;20164820;20179739;20203524;20213609;20219786;20224778;20237496;20301492;20346270;20362271;20368992;20378605;20388015;20403730;20410501;20424473;20448211;20450971;20452482;20453842;20483636;20484297;20498205;20503287;20518821;20539016;20545784;20562654;20595929;20596022;20599261;20615141;20628086;20673868;20716621;20716663;20729906;20810507;2083254;20849903;20930173;21048031;21094786;21102463;21131424;21132303;21157146;21179414;21180073;21211217;21239413;21249500;21278348;21300823;21376048;21437244;21525574;21533205;2153927;21557210;21557772;21571262;21651772;21722762;21744325;21757642;21815908;21829393;21833088;21839272;21911588;21941578;21949691;21980389;22012429;22032685;22117963;22158072;22190364;22195034;22211793;22213266;22222639;22228203;22266274;22293688;22294642;22309031;22310634;22313865;22419479;22436290;22446965;22447883;22461703;22466163;22479496;22516956;22537764;22554193;22558434;22564647;22576476;22623161;22672991;22824721;22897480;22980333;2303462;2308942;23103669;23116454;23121673;23128233;23129754;23144749;2315327;23170961;23217119;23282736;23320892;23340699;23340854;23345407;23383287;23416241;23418630;23508266;23510625;23512675;23529819;23665204;23676143;23697843;23715268;23758320;23817569;23870656;23874506;23904478;23972291;24037346;24134837;24141626;24151582;24159173;24163352;24189682;24236041;24280705;24332945;24346644;24354800;24362271;24369221;24388013;24390342;24449572;24462799;24634493;2467293;24708420;24752698;24901172;2497520;2785715;2843775;2901720;2941417;2983318;2990220;2996141;2999698;3030566;3097520;3134887;3135323;3925551;6090948;6090949;6096720;7529123;7539755;7588634;7734194;7853525;7862168;7903128;8072542;8072544;8098618;8125298;8364583;8493579;8530186;8752938;8896456;8943338;9203962;9215668;9223324;9268307;9341758;9637477 3559 H0Y5Z0;P01589;Q5W005;Q5W006 ABBA01034769;AF008556;AK223313;AK313847;AL137186;AL157395;AMYH02022051;AMYH02022052;AY563103;BN000945;CH471072;HI573910;JA738831;K03122;M11066;M14098;M15864;NG_007403;NM_000417;X01057;X03131;X03138;XM_005252446 AAA59142;AAA59162;AAA67527;AAB59535;AAB63458;AAI52890;AAI56628;AAS55572;BAD97033;BAG36576;CAA25525;CAA26906;CAK26553;CBX47444;CCF77061;EAW86412;EAW86413;EAW86414;NP_000408;P01589;XP_005252503 Hs.231367 1673058;1683787;1708622;1742243;1764629;1767433;1794940;1796106;1852067;5022425 D22S296;GDB:193868;IL2RA_767;PMC85880P1;RH11124;RH27239;SHGC-148218;SHGC-85106;STS-X01057;STS-X03133 CD25;IDDM10;IL-2-RA;IL2-RA;IL2R;TCGFR;p55 IL-2 receptor subunit alpha;IL-2R subunit alpha;OTTHUMP00000019030;OTTHUMP00000019031;OTTHUMP00000019032;TAC antigen;insulin-dependent diabetes mellitus 10;interleukin 2 receptor, alpha chain;interleukin-2 receptor subunit alpha 2315438 INSUL41_H APPROVED protein-coding ENSG00000134460 HGNC:6008 00986 147730;601942;606367 REVIEWED 1353267 IL31 interleukin 31 IL31, which is made principally by activated Th2-type T cells, interacts with a heterodimeric receptor consisting of IL31RA (MIM 609510) and OSMR (MIM 601743) that is constitutively expressed on epithelial cells and keratinocytes. IL31 may be involved in the promotion of allergic skin disorders and in regulating other allergic diseases, such as asthma (Dillon et al., 2004 [PubMed 15184896]).[supplied by OMIM, Mar 2008] 12 12 12 q24.31 122245842 122248011 - 122656577 122658746 - 122172030 122174199 - 6480464;8554872 12477932;15184896;15925362;16461142;16461143;17030248;17487427;17900679;18439099;18678344;18802341;18839421;18926762;19281909;19889120;19920145;20163453;20190140;20410259;21057749;21182835;21211659;21261663;21294778;21952721;22017185;22177328;22509760;22539792;22621183;22827739;23392388;23621408;23694808;23698099;23794184;23874436;24943220 386653 Q6EBC2 ABBA01060479;AC048338;AMYH02027415;AY499343;BC132998;BC133000;CH471054;CS398406;CS399446;CS401255;CS456685;CS720082;FB507079;FB753876;GM989492;GN088750;HC731045;HH829734;JC449282;NM_001014336 AAI32999;AAI33001;AAS86448;CAL44872;CAL44939;CAL44950;CAL91842;CAP40193;CAT05434;CAV32859;CAX21673;CAX86999;CBL94048;CBX32717;CDM63719;EAW98310;NP_001014358;Q6EBC2 Hs.569071 IL-31 OTTHUMP00000239740;interleukin-31 APPROVED protein-coding ENSG00000204671 HGNC:19372 11877 609509 VALIDATED 737391 IL3 interleukin 3 The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 127526422 127528971 + 131396347 131398896 + 132060654 132063203 + 1580863;2317663;2317666;2317665;5684375;5686879;5686875;6480464;5686773;5686890;5686897;5686905;5686815;5686876;5686886;5686795;5686817;5686901;5686909;6484113;6907045 11268282;15843207;17934472;18214547;18769539;19889595;20018070;20332709;20479761;20500666;20717122;20945403;20957152;21175248;21203453;21515263;21537082 10477722;10677502;11179015;11399510;11486081;11700046;11714768;11763346;11861295;11994280;12002675;12055233;12089333;12093816;12135758;12165512;12423306;12477932;12612065;12759409;12855588;12884288;12943658;14551608;14564341;14615378;14628073;14675189;14755254;15060062;15372022;15372320;15489334;15576295;15585837;15878977;15988318;16785501;17179997;17207965;17273755;17362254;17507237;17541278;17624239;17703412;1833064;18633131;18676680;18692472;18768389;18804346;18826654;18829683;19074885;19131452;19158269;19170196;19201898;19247692;19258923;19262575;19529981;19578876;19625176;19692168;19730683;19829692;19845895;19913121;20147630;20210668;20237496;20381581;20424473;20452482;20453000;20472554;20503287;20516062;20628086;20673868;20738848;20800603;20964623;21071541;21102463;21168724;21224257;21262803;21506110;21643009;22321809;22412388;22515947;2268499;23024272;23128233;23226269;23726808;23953855;23978640;24390342;24598054;24684517;2544122;3127463;3489530;3497400;3497843;7642615;7957082;8018916;8516290;8649415;8676386;9030599;9113989;9209414;9278420;9551928;9629242;9659156;9722506;9736740 3562 P08700;Q6NZ79 ABBA01068814;AC004511;AC034228;AF365976;AMYH02012209;BC066272;BC066273;BC066274;BC066275;BC066276;BC069472;CH471062;HI574160;M14743;M17115;M20137;NM_000588 AAA35725;AAA59146;AAA59147;AAC08706;AAH66272;AAH66273;AAH66274;AAH66275;AAH66276;AAH69472;AAK38378;ADQ32937;CBX47569;EAW62354;NP_000579;P08700 Hs.694 1643766;1644157;1754071;1797744;1800642;1817274;1817908;1819000;1825814;1836684;1995572;1995574;1995576;1995578;1995580;1995582;1995584;1995586;1995588;1995590;1995592;1995594;1995596;1995598;1995600;1995602;1995604;1995606;1995608;1995610;2095570;2095572;2095574;2095576;2135520 D5S2409;ECD01182;ECD09687;ECD10008;ECD10565;ECD14015;ECD19506;G10621;IL3_1962;REN68694;REN68695;REN68696;REN68697;REN68698;REN68699;REN68700;REN68701;REN68702;REN68703;REN68704;REN68705;REN68706;REN68707;REN68708;REN68709;REN68710;REN68711;REN68712;REN68713;RH17672;SHGC-132106;stSG601023;stSG601024;stSG601025;stSG601026 IL-3;MCGF;MGC79398;MGC79399;MULTI-CSF OTTHUMP00000065963;P-cell stimulating factor;P-cell-stimulating factor;colony-stimulating factor, multiple;hematopoietic growth factor;interleukin-3;mast cell growth factor;mast-cell growth factor;multilineage-colony-stimulating factor;multipotential colony-stimulating factor APPROVED protein-coding ENSG00000164399 HGNC:6011 00987 147740 REVIEWED 1344882 IL31RA interleukin 31 receptor A The protein encoded by this gene belongs to the type I cytokine receptor family. This receptor, with homology to gp130, is expressed on monocytes, and is involved in IL-31 signaling via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a receptor complex with oncostatin M receptor (OSMR). Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011] 5 5 5 q11.2 52101052 52166797 + 55147207 55218682 + 55851379 55922854 + 1580863;6480464;8699517;8554872;7240710 11329013;11877449;12477932;12975309;14504285;15184896;15194700;15340161;15489334;15627637;16461143;18580959;18926762;19690585;19730683;20237496;20379614;20849534;23128233;23333304;23392388;24373353 133396 B4DNJ2;J3KNB6;Q8NI17 ABBA01015752;ABBA01015753;ABBA01015754;ABBA01015755;AC008914;AF106913;AF486620;AK297938;AMYH02011319;AMYH02011320;AMYH02011321;AMYH02011322;AY358117;AY358740;AY499339;AY499340;AY499341;AY499342;BC110490;BG194774;CH471123;CS398412;FB507082;GM989496;GM989498;GN088754;GN088756;HC731049;HC731051;HH829737;HI936211;JC449286;JC449288;JC485844;JC485846;NG_029436;NM_001242636;NM_001242637;NM_001242638;NM_001242639;NM_001297570;NM_001297572;NM_139017;XM_005248428;XM_006714528 AAI10491;AAL36452;AAM27958;AAQ88484;AAQ89100;AAS86444;AAS86445;AAS86446;AAS86447;BAG60254;CAL44875;CAV32860;CAX21675;CAX21676;CAX87001;CAX87002;CBL94050;CBL94051;CBX32718;CBY79723;CDM63721;CDM63722;CEF37152;CEF37160;EAW54930;EAW54931;EAW54932;EAW54933;EAW54934;NP_001229565;NP_001229566;NP_001229567;NP_001229568;NP_001284499;NP_001284501;NP_620586;Q8NI17;XP_005248485;XP_006714591 Hs.55378 1651083;1667765;5022578 D1S1423;G16909;SGC44558 CRL;CRL3;GLM-R;GLMR;GPL;IL-31RA;MGC125346;PLCA2;PRO21384;hGLM-R GP130 like receptor;IL-31 receptor subunit alpha;IL-31R subunit alpha;IL-31R-alpha;OTTHUMP00000122547;OTTHUMP00000195058;OTTHUMP00000195059;OTTHUMP00000195060;OTTHUMP00000221877;class I cytokine receptor;cytokine receptor-like 3;gp130-like monocyte receptor;gp130-like receptor;interleukin-31 receptor subunit alpha;soluble type I cytokine receptor CRL3;zcytoR17 APPROVED protein-coding ENSG00000164509 HGNC:18969 17145 609510;613955 REVIEWED 1350575 IL32 interleukin 32 This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3320858 3325134 + 3115313 3119668 + 3065312 3069667 + 6480464;8554872 12477932;15489334;15664165;16303761;16341674;16410314;16488976;16492735;16903774;1729377;17619821;18287021;18289868;18296636;18414668;18768856;19017495;19228941;19248119;19291698;19364659;19386602;19628777;19740314;19880327;19946888;20112365;20190143;20221440;20227751;20237496;20400971;20470879;20480520;20541181;20615213;20888796;20889550;20926308;20972266;21078994;21139048;21152864;21208204;21321117;21346229;21383200;21423208;21452292;21468596;21469100;21481941;21487807;21525393;21551364;21602493;21649914;21725974;21899560;22037460;22043900;22174851;22198481;22203669;22277801;22486709;22505724;22563781;22613074;22687868;22927445;23000965;23180362;23359495;23402302;23479179;23486016;23517397;23534905;23567618;23607494;23703385;23727326;23729669;23814099;24114327;24129891;24140068;24226419;24295830;24337385;24396867;24579465;24748497;25015289;9653642 9235 C6GKH1;E9PIV2;E9PK07;F8VSD2;F8VVN4;F8W1V1;G3LU47;P24001 ABBA01026726;AC108134;AK296143;AK307158;AK310053;AMYH02031280;AX616375;AY495331;AY495332;AY495333;AY495334;BC009401;BC018782;BC105602;BF568456;BG748458;BM759359;BM822755;CH471112;CS300610;EU339107;FJ985780;FJ985781;JN546102;M59807;NG_029254;NM_001012631;NM_001012632;NM_001012633;NM_001012634;NM_001012635;NM_001012636;NM_001012718;NM_004221;W57940;XM_005255686 AAA36367;AAH09401;AAH18782;AAI05603;AAS80143;AAS80144;AAS80145;AAS80146;AAS80147;AAS80148;ACA50721;ACS74769;ACS74770;AEN74995;BAG58883;CAD67652;CAK32274;EAW85405;EAW85406;EAW85407;EAW85408;EAW85409;EAW85410;EAW85411;EAW85412;NP_001012649;NP_001012650;NP_001012651;NP_001012652;NP_001012653;NP_001012654;NP_001012736;NP_004212;P24001;XP_005255743 Hs.943 1339525;1774166;1774168 D16S3082;D16S3245;STS-M59807 IL-32;IL-32alpha;IL-32beta;IL-32delta;IL-32gamma;NK4;TAIF;TAIFb;TAIFc;TAIFd OTTHUMP00000236040;OTTHUMP00000236041;OTTHUMP00000236042;OTTHUMP00000236043;OTTHUMP00000236044;OTTHUMP00000236045;OTTHUMP00000236046;OTTHUMP00000236047;OTTHUMP00000236048;OTTHUMP00000236049;OTTHUMP00000236050;OTTHUMP00000236051;OTTHUMP00000236052;OTTHUMP00000236053;OTTHUMP00000236054;OTTHUMP00000241545;OTTHUMP00000241602;OTTHUMP00000241603;OTTHUMP00000241604;OTTHUMP00000241605;OTTHUMP00000241606;OTTHUMP00000241607;OTTHUMP00000241608;OTTHUMP00000241609;OTTHUMP00000241610;OTTHUMP00000241611;OTTHUMP00000241612;TAIFa;interleukin-32;interleukin-32 eta;interleukin-32 small;interleukin-32 theta;natural killer cell transcript 4;natural killer cells protein 4;tumor necrosis factor alpha-inducing factor APPROVED protein-coding ENSG00000008517 HGNC:16830 09346 606001 REVIEWED 1602184 IL34 interleukin 34 Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 [PubMed 18467591]).[supplied by OMIM, May 2008] 16 16 16 q22.1 54830211 54914394 - 70613798 70694585 + 70579895 70660682 + 6480464;8554872 12477932;16713569;18467591;20504948;22039170;22264405;23177320;23206468;23260168;23421370;23684409;23744080;23996288;24712570;24737461 146433 H3BPB7;J3QQT3;Q6ZMJ4 ABBA01010651;ABBA01010652;ABBA01010653;ABBA01010654;ABBA01010655;AC020763;AC106804;AK172744;AK307727;AK308799;AK314913;AMYH02032307;AMYH02032308;AW292500;BC029804;BQ709387;CD248375;CD515627;CH471241;EU599219;EU636994;NM_001172771;NM_001172772;NM_152456 AAH29804;ACD13452;ACD13474;BAD18731;BAG37425;EAW51800;EAW51801;EAW51802;NP_001166242;NP_001166243;NP_689669;Q6ZMJ4 Hs.461214 1727261;1856944;5016596 G62886;GDB:631802;SHGC-60857 C16orf77;IL-34;MGC34647 OTTHUMP00000174906;interleukin-34 APPROVED protein-coding ENSG00000157368 HGNC:28529 14582 612081 VALIDATED 1322461 IL33 interleukin 33 IL33 (MIM 608678) is a member of the IL1 (see MIM 147760) family that potently drives production of T helper-2 (Th2)-associated cytokines (e.g., IL4; MIM 147780). IL33 is a ligand for IL33R (IL1RL1; MIM 601203), an IL1 family receptor that is selectively expressed on Th2 cells and mast cells (summary by Yagami et al., 2010 [PubMed 20926795]).[supplied by OMIM, Jan 2011] 9 9 9 p24.1 6179137 6195439 + 6215149 6257983 + 6215149 6257983 + 6480464 10566975;12477932;12819012;15164053;15489334;16169070;16286016;17185418;17623648;17675461;17700564;17853410;18250453;18539196;18688256;18762778;18787100;18802081;18827826;18836528;18941187;18955562;19037964;19198610;19204726;19248109;19266498;19372185;19393621;19439663;19465481;19508382;19559631;19596270;19756962;19801525;19841166;19860791;19888696;19906013;19913053;19918048;20029461;20035719;20072851;20153038;20305685;20338108;20379614;20385815;20405148;20406635;20532808;20534741;20682660;20689058;20708824;20731692;20816195;20860503;20926795;20931364;20958987;20963466;21037074;21190867;21246230;21357533;21431944;21441054;21454686;21519352;21674220;21674479;21682736;21684348;21734074;21737781;21765905;21802127;21804549;21898270;21935266;21949719;22079334;22100205;22189043;22215666;22233535;22239947;22246057;22270365;22304300;22307629;22315510;22329990;22349136;22530772;22540331;22587998;22590860;22627366;22634619;22673732;22682001;22699663;22708120;22785132;22809957;22819319;22828942;22835988;22836779;22841163;22858587;22921786;23000728;23028054;23039129;23093619;23159404;23162017;23178147;23205532;23206447;23219168;23261461;23290950;23300625;23319592;23332814;23357301;23362867;23363980;23433789;23464866;23472165;23484079;23485578;23488689;23521712;23525523;23552178;23585867;23634226;23641786;23656573;23725175;23759184;23764374;23775566;23794184;23805875;23817569;23855553;23910012;23935505;23936781;23967327;23980170;23999434;24028569;24045639;24075188;24106520;24107076;24116703;24122812;24205920;24217710;24220317;24241537;24257755;24304137;24323357;24385203;24388013;24430213;24459820;24586149;24675360;24886535;24892809;24982172 90865 O95760 AB024518;ABBA01065398;AI610794;AK295908;AK303943;AK313414;AL080211;AL353741;AMYH02019091;AY905581;BC047085;BQ878541;CH471071;CR407619;DB477860;HQ641439;NM_001199640;NM_001199641;NM_033439;XM_005251626;XM_005251627 AAH47085;AAX86998;ADR77828;BAA75892;BAG36208;BAG58697;BAG64871;CAG28547;EAW58748;EAW58749;EAW58750;EAW58751;NP_001186569;NP_001186570;NP_254274;O95760;XP_005251683;XP_005251684 Hs.731660 1669413;1769559;2118090;2121233 D9S2078;RH46528;RH47407;SHGC-57740 C9orf26;DKFZp586H0523;DVS27;IL-1F11;IL-33;IL1F11;NF-HEV;RP11-575C20.2 DVS27-related protein;NFEHEV;OTTHUMP00000021041;interleukin-1 family member 11;interleukin-33;nuclear factor for high endothelial venules;nuclear factor from high endothelial venules APPROVED protein-coding ENSG00000137033 HGNC:16028 12275 608678 VALIDATED 1315732 IL36A interleukin 36, alpha ENCODES a protein that exhibits cytokine activity (inferred); INVOLVED IN inflammatory response (inferred); positive regulation of interleukin-6 production (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH benzo[a]pyrene; pirinixic acid; 4-hydroxynon-2-enal (ortholog) 2 2 2 q12-q14.1 107148610 107150782 + 113763038 113766221 + 113005461 113008644 + 1580863;6480464;8554872 10512743;10625660;10744718;10860666;11093146;11145836;11278614;11466363;11574262;11991722;12110411;12477932;14734551;15489334;15815621;16777052;17908936;18484691;19913121;20141484;20237496;20628086;21242515;21965679;23268368;24061617;24829417;8188271;9169134 27179 Q9UHA7 ABBA01074248;AC016724;AF201831;AK314149;AMYH02004595;AY944686;BC107042;BC107043;BN000002;CH471217;NM_014440;XM_005263639 AAF25211;AAI07043;AAI07044;AAX20113;AAY14988;BAG36836;CAD29875;EAW73614;NP_055255;Q9UHA7;XP_005263696 Hs.278910 FIL1;FIL1(EPSILON);FIL1E;IL-1F6;IL1(EPSILON);IL1F6;MGC129552;MGC129553 FIL1 epsilon;IL-1 epsilon;IL-1F6 (FIL-1-epsilon);OTTHUMP00000203688;interleukin 1 family, member 6 (epsilon);interleukin 1, epsilon;interleukin-1 epsilon;interleukin-1 family member 6;interleukin-36 alpha APPROVED protein-coding ENSG00000136694 HGNC:15562 16113 605509 PROVISIONAL 1351778 IL36G interleukin 36, gamma The protein encoded by this gene is a member of the interleukin 1 cytokine family. The activity of this cytokine is mediated by interleukin 1 receptor-like 2 (IL1RL2/IL1R-rp2), and is specifically inhibited by interleukin 1 family, member 5 (IL1F5/IL-1 delta). Interferon-gamma, tumor necrosis factor-alpha and interleukin 1, beta (IL1B) are reported to stimulate the expression of this cytokine in keratinocytes. The expression of this cytokine in keratinocytes can also be induced by a contact hypersensitivity reaction or herpes simplex virus infection. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 2 2 2 q12-q21 107120767 107128388 + 113735596 113743249 + 112978019 112985672 + 1580863;6480464;8554872 10512743;10625660;10744718;10860666;11093146;11145836;11278614;11466363;11574262;11991722;11991723;12477932;12975309;14734551;15331687;15489334;15701729;15815621;18484691;18854154;20141484;20237496;20870894;21242515;21965679;22082156;22318382;23095752;23383108;23867815;24829417;8188271;9169134 56300 C9J681;Q9NZH8 ABBA01074248;AC016724;AF200492;AF206696;AMYH02004595;AY359111;AY968311;BC096721;BC098130;BC098155;BC098337;BN000002;CH471217;NM_001278568;NM_019618 AAF69248;AAG35670;AAH96721;AAH98130;AAH98155;AAH98337;AAQ89469;AAX59035;AAY14987;CAD29874;EAW73613;NP_001265497;NP_062564;Q9NZH8 Hs.211238 1754233;1796072;2146983 IL-1H1_156;SHGC-132256;SHGC-17728 IL-1F9;IL-1H1;IL-1RP2;IL1E;IL1F9;IL1H1;IL1RP2 IL-1 epsilon;IL-1 related protein 2;IL-1(EPSILON);IL-1-epsilon;IL-1-related protein 2;OTTHUMP00000203689;OTTHUMP00000203690;interleukin 1 family, member 9;interleukin 1-related protein 2;interleukin-1 epsilon;interleukin-1 family member 9;interleukin-1 homolog 1;interleukin-36 gamma APPROVED protein-coding ENSG00000136688 HGNC:15741 05707 605542 REVIEWED 1317278 IL36B interleukin 36, beta The protein encoded by this gene is a member of the interleukin 1 cytokine family. Protein structure modeling indicated that this cytokine may contain a 12-stranded beta-trefoil structure that is conserved between IL1A (IL-A alpha) and IL1B (IL-1 beta). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 2 2 2 q14 107164821 107195607 - 113779668 113810444 - 113022091 113052867 - 1580863;6480464;8554872 10512743;10625660;10744718;10860666;11093146;11145836;11278614;11466363;11574262;11991722;12477932;14734551;15815621;16646978;18484691;20141484;20237496;21242515;21965679;22318382;23824909;24829417;8188271;9169134 27177 Q9NZH7 ABBA01074247;AC016724;AF200494;AF201833;AMYH02004595;BC101831;BC101833;BN000002;CA441070;CH471217;DQ224343;NM_014438;NM_173178 AAF25213;AAF69250;AAI01832;AAI01834;AAY14989;ABA60896;CAD29876;EAW73615;EAW73616;NP_055253;NP_775270;Q9NZH7 Hs.278909 1797740 IL1F8_2206 FIL1;FIL1-(ETA);FIL1H;FILI-(ETA);IL-1F8;IL-1H2;IL1-ETA;IL1F8;IL1H2;MGC126880;MGC126882 FIL1 eta;IL-1 eta;IL-1F8 (FIL1-eta);IL1F8 (Canonical product IL-1F8a);Interleukin-1 Superfamily e;OTTHUMP00000162016;OTTHUMP00000162017;family of interleukin 1-eta;interleukin 1 family, member 8 (eta);interleukin 1, eta;interleukin-1 eta;interleukin-1 family member 8;interleukin-1 homolog 2;interleukin-36 beta APPROVED protein-coding ENSG00000136696 HGNC:15564 05694 605508 REVIEWED 1346334 IL37 interleukin 37 The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 2 2 2 q12-q14.1 107055701 107061615 + 113670548 113676459 + 112912971 112918882 + 1580863;6480464;8554872 10512743;10625660;10744718;10860666;11093146;11145836;11278614;11466363;11574262;11991722;11991723;12096920;12381835;12477932;12496389;15489334;15527767;15815621;17207965;18390730;18484691;19874811;20141484;20237496;20935647;21072596;21394384;21873195;22646996;23159404;23171316;23182761;23600829;23697556;23932459;24174711;24357513;24453242;24481253;24629023;8188271;9169134 27178 Q7RU00;Q9NZH6 AB451333;AB451478;ABBA01074248;AC079753;AF167368;AF200496;AF201832;AF251118;AF251119;AF251120;AMYH02004595;AY071840;AY071841;AY973625;BC020637;BN000002;CH471217;NG_029219;NM_014439;NM_173202;NM_173203;NM_173204;NM_173205 AAF25212;AAF69252;AAG14420;AAG14421;AAG14422;AAG29344;AAH20637;AAL67151;AAL67154;AAX59036;AAX88889;ABM82314;ADQ32131;BAG70147;BAG70292;CAD29873;EAW73608;EAW73609;EAW73610;EAW73611;EAW73612;NP_055254;NP_775294;NP_775295;NP_775296;NP_775297;Q9NZH6 Hs.166371 FIL1;FIL1(ZETA);FIL1Z;IL-1F7;IL-1H;IL-1H4;IL-1RP1;IL-37;IL1F7;IL1H4;IL1RP1 FIL1 zeta;IL-1 zeta;IL-1F7b (IL-1H4, IL-1H, IL-1RP1);IL-1X protein;IL1F7 (canonical product IL-1F7b);OTTHUMP00000162032;OTTHUMP00000162033;OTTHUMP00000162034;OTTHUMP00000162035;OTTHUMP00000162036;interleukin 1 family member 7;interleukin 1 family, member 7 (zeta);interleukin 1, zeta;interleukin-1 family member 7;interleukin-1 homolog 4;interleukin-1 superfamily z;interleukin-1 zeta;interleukin-1-related protein;interleukin-23;interleukin-37 APPROVED protein-coding ENSG00000125571 HGNC:15563 05695 605510 REVIEWED 1322552 IL36RN interleukin 36 receptor antagonist The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 2 2 2 q14 107201384 107207490 + 113816215 113822321 + 113058638 113064744 + 1580863;6480464;8699517;7240710;8554872 10512743;10625660;10744718;10860666;10866108;11093146;11145836;11278614;11466363;11574262;11841485;11991722;12477932;12975309;14644395;14702039;15231748;15489334;15815621;16189514;16211343;16918024;16978071;17975119;18484691;19023099;19913121;20141484;20237496;20379614;20628086;21242515;21839423;21965679;22315422;22325761;22862555;22903787;23303454;23358093;23428889;23648549;23698098;23792462;23863864;24829417;8188271;9169134 26525 C9JTH1;Q9UBH0;U3KPW9 ABBA01074247;AC016724;AF186094;AF201830;AF216693;AF230377;AJ242737;AJ242738;AJ271338;AK002125;AK290249;AMYH02004595;AX069307;AY359117;AY972853;BC000945;BC024747;BN000002;CH471217;NG_031864;NM_012275;NM_173170;XM_005263638 AAF02757;AAF25210;AAF76981;AAF91274;AAH24747;AAQ89475;AAX59031;AAY14990;ABM81628;ABM84812;BAF82938;CAB59822;CAB59823;CAB67704;CAC27298;CAD29877;EAW73617;EAW73618;NP_036407;NP_775262;Q9UBH0;XP_005263695 Hs.516301 1773397 D2S2806 FIL1;FIL1 delta;FIL1(DELTA);FIL1D;IL-1 delta;IL-1HY1;IL-1L1;IL1F5;IL1HY1;IL1L1;IL1RP3;IL36RA;MGC29840;PSORP IL-1 related protein 3;IL-1-related protein 3;IL-1F5 (IL-1HY1, FIL1-delta, IL-1RP3, IL-1L1, IL-1-delta);IL-1ra homolog 1;IL1F5 (Canonical product IL-1F5a);OTTHUMP00000162015;OTTHUMP00000203697;OTTHUMP00000203698;family of interleukin 1-delta;interleukin 1 family, member 5 (delta);interleukin 1, delta;interleukin-1 HY1;interleukin-1 delta;interleukin-1 family member 5;interleukin-1 receptor antagonist homolog 1;interleukin-1-like protein 1;interleukin-36 receptor antagonist protein APPROVED protein-coding ENSG00000136695 HGNC:15561 16112 605507;614204 REVIEWED 1348134 IL3RA interleukin 3 receptor, alpha (low affinity) The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012] X X;Y X;Y p22.3 or Yp11.3 5763883 5782916 + 1405488 1451582 + 1336601 1382689 + 1580863;6480464;6484113;6907045;8699517 10477722;10515868;11034417;11120855;11207369;12044522;12351411;12384414;12477932;12504125;12604332;12943658;14500898;14671644;15489334;15795318;15988755;16007196;17474147;17522711;18047539;1833064;18547720;18555589;19109256;19257981;19281803;19454491;19614769;19730683;19762535;20452482;20673868;20809502;20819538;20888334;21176354;21330473;21917686;21933861;21955314;21988832;22719258;22914610;23080069;23470050;23791208;24030378;24152218;24751333;7651724;7796808;7887951;7957082;8100720;8213838;8599840;8649415;8943237;8948019;9278420;9574547 3563 J3JS34;P26951 ABBA01055727;ABBA01055728;ABBA01055729;ABBA01055730;ABBA01055731;ABBA01055732;ABBA01055733;ABBA01055734;ABBA01055735;AI765858;AK290568;AL683870;AMYH02038678;AMYH02038679;AMYH02038680;AMYH02038681;AW452270;AY789109;BC035407;BX119906;BX296563;BX901885;CH471074;D49410;FJ550347;JC231872;M74782;NM_001267713;NM_002183;XM_005274431;XM_005274432;XM_005274780;XM_005274781 AAA59148;AAH35407;AAV40832;ABW03424;ACM24116;BAA08393;BAF83257;CAI39694;CAI39695;CDM22278;EAW98679;NP_001254642;NP_002174;P26951;XP_005274488;XP_005274489;XP_005274837;XP_005274838 Hs.632790 2155136;2217486 IL3RA_2734;RH65317 CD123;IL-3RA;IL3R;IL3RAY;IL3RX;IL3RY;MGC34174;hIL-3Ra CD123 antigen;IL-3 receptor alpha SP2 isoform;IL-3 receptor subunit alpha;IL-3R subunit alpha;IL-3R-alpha;OTTHUMP00000022828;interleukin-3 receptor subunit alpha APPROVED protein-coding ENSG00000185291 HGNC:6012 02392;08951 308385;430000 REVIEWED 1312498 IL4I1 interleukin 4 induced 1 This gene encodes a protein with limited similarity to L-amino acid oxidase which contains the conserved amino acids thought to be involved in catalysis and binding of flavin adenine dinucleotide (FAD) cofactor. The expression of this gene can be induced by interleukin 4 in B cells, however, expression of transcripts containing the first two exons of the upstream gene is found in other cell types. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 19 19 19 q13.3-q13.4 47262414 47302277 - 50392911 50432796 - 49889654 49929539 - 1580863;6480464;6907045;8554872 12031486;12446450;12477932;12975309;15340161;15489334;16029492;17356132;18029348;19436310;20683900;23355881;24250222;24307243 259307 M0QXY7;M0QYH9;M0QYW8;M0R1L1;M0R2S9;Q96RQ9 ABBA01032907;ABBA01032908;AC011452;AC118342;AF293462;AF293463;AJ880386;AJ880387;AJ880388;AJ880389;AMYH02036332;AMYH02036333;AMYH02036334;AMYH02036335;AY358933;BC026103;BC064378;BC090852;BC131625;BQ672052;CH471177;DQ079587;DQ079588;DQ079589;NG_021170;NM_001258017;NM_001258018;NM_152899;NM_172374;NR_047577 AAH64378;AAH90852;AAI31626;AAK73362;AAK73363;AAQ89292;AAZ32711;AAZ32712;AAZ32713;CAI54291;CAI54292;CAI54293;EAW52574;EAW52575;NP_001244946;NP_001244947;NP_690863;NP_758962;Q96RQ9 Hs.574492;Hs.741750 1645620;1681217;1776983;1792386;1792388;2145185;5017663 D19S998;NUP62;PMC150528P1;PMC150528P2;RH46521;RH71288;RH79668 FIG1;LAAO;LAO;hFIG1 Fig-1 protein;IL4-induced protein 1;L-amino-acid oxidase;interleukin four induced 1 APPROVED protein-coding ENSG00000104951 HGNC:19094 17146 609742 REVIEWED 735615 IL4R interleukin 4 receptor This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] 16 16 16 p12.1-p11.2 26102563 26153416 + 27325161 27376099 + 27313857 27364778 + 1358313;1580863;2317263;2317669;2317264;4890352;4889983;4889995;4889996;4890393;4890011;4889985;4890349;4890348;4890404;4890351;4890395;4890005;4890346;4890394;4890024;4890387;4890021;4890389;4890003;4890390;4890406;4889847;4890022;4890347;4889981;4890402;5128514;5128510;5128553;5128562;6480464;6484113;6907045;7240710;7207070;5131286;7207066;7207069;7829822;7829779;7829784;8554872 10807530;11164908;11398072;11709756;12133990;12165974;12171893;12508140;12940513;14712310;15161635;15479272;15564773;16280132;16313681;16890766;16917945;17170387;17586032;17703412;17942922;18425216;18758789;18798553;18954266;19380795;19395316;19548368;19770271;20002627;20404812;20605987;20623539;20811626;20861354;20868478;20953944;21251883;22317767;22705603;23149659 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3566 B2RBY1;H3BRH7;H3BSE7;H3BTD9;I3L4H7;I3L4W9;J9JII2;P24394;Q5FC08 AA838318;AB102798;ABBA01017154;ABBA01017155;ABBA01017156;AC004525;AC106739;AF421855;AJ293647;AJ293648;AJ293649;AJ293650;AJ293651;AJ293652;AJ293653;AJ293654;AK223591;AK303255;AK314863;AMYH02031766;BC110343;BC136365;BC151131;BX479288;CH471145;CS104810;DA492909;EF173858;NG_012086;NM_000418;NM_001257406;NM_001257407;NM_001257997;X52425;XM_005255305;XM_005255308;XM_005255309;XM_006721043 AAC23495;AAI36366;AAI51132;AAL12163;ABM53131;BAD89389;BAD97311;BAG37378;BAG64338;CAA36672;CAC20445;CAC20446;CAC20447;CAC20448;CAC20449;CAC20450;CAC20451;CAC20452;CAJ01243;EAW55750;NP_000409;NP_001244335;NP_001244336;NP_001244926;P24394;XP_005255362;XP_005255365;XP_005255366;XP_006721106 Hs.513457;Hs.742121 1644218;1743453;1794758;1797746;2130239;2174635 D16S3224;GDB:335754;IL4R_416;PMC55319P2;RH70830;SHGC-30149 CD124;IL-4RA;IL4RA IL-4 receptor subunit alpha;IL-4R subunit alpha;IL-4R-alpha;IL4R nirs variant 1;OTTHUMP00000122506;interleukin 4 receptor alpha;interleukin-4 receptor alpha chain;interleukin-4 receptor subunit alpha APPROVED protein-coding ENSG00000077238 HGNC:6015 00990 147050;147781;609423 REVIEWED 736306 IL4 interleukin 4 The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 128139502 128148524 + 132009678 132018370 + 132673986 132682678 + 1580863;1358745;2317286;2317291;2317300;2317264;2317290;2317270;2317271;2317285;2317673;2317265;2317261;2317263;2317267;2307059;2317296;2317282;2317284;5128511;5128554;5128558;4889866;5128564;5128500;5128546;5128548;5128555;4140459;5128502;5128515;5128557;5128560;5128562;5128506;5128559;5128550;5147902;6480464;6484113;6907045;7829827;5684371;7829773;7829803;7829829;7794747;7829795;7829817;7829825;8142395;7829776;7829781;8142400;8663478;7829774;7829778;7829791;7829796;7829802;7829811;8142389;8142397;7829812;7829771;7829804;7829828;7193038;7829819;7829823;7829820;7829775;7829786;8142396;7829826;7204480;8662960;8663475 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3565 D4HNR6;P05112;Q5FC01 AB102862;ABBA01068803;AC004039;AF043336;AF395008;AF465829;AM937235;AMYH02012219;BC066277;BC066278;BC067514;BC067515;BC070123;CD640452;CH471062;CS255762;EF173851;FB507239;FJ807883;HC679221;HH829894;JX878389;M13982;M23442;NG_023252;NM_000589;NM_172348;X06750;X81851;XR_427710 AAA59149;AAA59150;AAC03537;AAH66277;AAH67514;AAH67515;AAH70123;AAK71324;ABM53124;ADD60204;AGM38212;BAD89396;CAA29925;CAA57444;CAJ75955;CAP72493;CAV32874;CBL86566;CBX32734;EAW62322;EAW62323;NP_000580;NP_758858;P05112 Hs.73917 1741263;1741265;1794600;1794746;1799790;1801760;1803252;1812080;1815140;1815398;1822584;1837186;1837988;1842028;2000612;2000614;2000616;2000618;2000620;2000622;2000624;2000626;2000628;2000630;2000632;2000634;2000636;2000638;2000640;2000642;2000644;2000646;2000648;2000650;2000652;2000654;2000656;2000658;2000660;2000662;2000664;2000666;2000668;2000670;2000672;2000674;2000676;2000678;2000680;2000682;2000684;2000686;2000688;2000690;2000692;2000694;2000696;2000698;2000700;2000702;2000704;2000706;2096328;2096330;2096332;2096334;2096336;2096338;2096340;2096342;2113802;5117304;5120203 ECD00749;ECD01760;ECD02519;ECD07045;ECD08604;ECD08735;ECD12380;ECD19759;ECD20165;ECD22217;GDB:180247;GDB:180248;GDB:207332;GDB:456299;IL4;PMC324417P1;PMC356970P2;REN71218;REN71219;REN71220;REN71221;REN71222;REN71223;REN71224;REN71225;REN71226;REN71227;REN71228;REN71229;REN71230;REN71231;REN71232;REN71233;REN71234;REN71235;REN71236;REN71237;REN71238;REN71239;REN71240;REN71241;REN71242;REN71243;REN71244;REN71245;REN71246;REN71247;REN71248;REN71249;REN71250;REN71251;REN71252;REN71253;REN71254;REN71255;REN71256;REN71257;REN71258;REN71259;REN71260;REN71261;REN71262;REN71263;REN71264;REN71265;stSG601440;stSG601441;stSG601442;stSG601443;stSG601444;stSG601445;stSG601446;stSG601447 BCGF-1;BCGF1;BSF-1;BSF1;IL-4;MGC79402 B cell growth factor 1;B-cell stimulatory factor 1;B_cell stimulatory factor 1;OTTHUMP00000066049;OTTHUMP00000066050;binetrakin;interleukin 4 variant 2;interleukin-4;lymphocyte stimulatory factor 1;pitrakinra APPROVED protein-coding ENSG00000113520 HGNC:6014 00989 147780 REVIEWED 730927 IL5 interleukin 5 This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [provided by RefSeq, Jul 2013] 5 5 5 q31.1 128007258 128009336 - 131877136 131892555 - 132541444 132556863 - 1580863;2307110;4890941;4890962;4890938;4890940;4890960;4890942;4890956;4890939;4890948;4145461;4890954;4890963;4890961;4889106;4890947;5128622;5687175;5687140;5687189;5687174;5687156;5687135;5687147;5687148;5687176;6480464;5687144;5687145;6484113;6907045;7241039;7241068;7240715;7241010 10934091;11159041;11884474;12765419;14975941;15368290;15502111;15626484;17074272;17986108;18222984;18519743;18629290;19151189;19947994;20858153;21912714;22018693;22035391;22085848;22186238;22230487;22293286;22299064;22665336;23054011;8757634;9182686;9493449;9697734;9712797 10417272;10477722;10753117;10880230;10973484;11101310;11763346;11830476;11842300;11877300;11897983;12097386;12202242;12354764;12366695;12393708;12444155;12477932;12525574;12534990;12575459;12581193;12759409;12771545;12851716;12910312;12915771;14564341;14581138;14630612;14634065;1495999;15007355;15155645;15220135;15271374;15367434;15489334;15528381;15534922;15549733;15563083;15713213;15735688;15802551;15805995;15826943;15826950;15835818;15842590;15845862;15935984;15951665;15964392;16001979;16036415;16236836;16243713;16449530;16556602;16596275;16722389;16879311;16922677;16929824;1698795;17015735;1732409;17362254;17438848;17517104;17567994;17581195;17620002;17620072;17623648;17628972;17690326;17703412;17845581;18028994;18056382;18206982;18273035;1833065;18383036;18395252;18519231;18633131;18676870;18686101;18687755;18712166;18772129;18818748;18844613;18849614;18925696;18996999;19019335;19050632;19131452;19141349;19152965;19168731;19180571;19198610;19200845;19222422;19247692;19258923;19299749;19336370;19360850;19379606;19419945;19478474;19486544;19527514;19533685;19573080;19578876;19698128;19773279;19773451;19840389;19845895;19860791;19913121;19914334;20047188;20237496;20332709;2037074;20403914;20418110;20452482;20453000;20503287;20523065;20530519;20561085;20568250;20628086;20636896;20650294;20673868;20825427;20943047;20952689;21168500;21235536;21323726;21418620;21609545;21849680;21986312;22092535;22153509;22528658;22541618;22710862;22805115;22962576;23128233;23306429;23306834;23328843;23382558;23401558;23555579;2361960;23684072;23770289;23957336;24447082;24530098;24738292;2563351;2823259;2824500;3024129;3498940;7534492;7721873;7957082;8419187;8438156;8483502;8892648;9136909 3567 C9JQP9;P05113 ABBA01068805;AC116366;AF353265;AMYH02012217;BC066279;BC066280;BC066281;BC066282;BC069137;CH471062;DQ655971;DQ655974;J02971;J03478;NG_033019;NM_000879;X04688;X12705;X12706;XM_005271988;XM_006714601 AAA74469;AAA98620;AAH66282;AAK19759;CAA28390;CAA31210;CAA31211;EAW62331;NP_000870;P05113;XP_005272045;XP_006714664 Hs.2247 1741619;1793186;1800450;1800452;1815314;1825820;1839896;1999512;1999514;1999516;1999518;1999520;1999522;1999524;1999526;1999528;1999530;1999532;1999534;1999536;1999538;1999540;1999542;1999544;1999546;1999548;2096150;2096152;2096154;2113800;2132512;2163616 D5S2473;ECD01085;ECD01086;ECD08693;ECD14018;ECD21131;GDB:181589;IL5;PMC199428P2;REN70668;REN70669;REN70670;REN70671;REN70672;REN70673;REN70674;REN70675;REN70676;REN70677;REN70678;REN70679;REN70680;REN70681;REN70682;REN70683;REN70684;REN70685;REN70686;RH18076;stSG601346;stSG601347;stSG601348 EDF;IL-5;TRF B cell differentiation factor I;B-cell differentiation factor I;OTTHUMP00000065830;T-cell replacing factor;colony-stimulating factor, eosinophil;eosinophil differentiation factor;interleukin-5 APPROVED protein-coding ENSG00000113525 HGNC:6016 00997 147850 REVIEWED 1343808 IL6RP1 interleukin 6 receptor pseudogene 1 9 9 9 q22.2 63278082 63279637 - 92843463 92845018 - 90081181 90082736 - 1889804;7579586 157916 ABBA01012833;AL161629;AMYH02021191;NG_002785;X79982 IL6RL1 APPROVED pseudo HGNC:6020 INFERRED 735921 IL5RA interleukin 5 receptor, alpha The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011] 3 3 3 p26-p24 3050635 3091288 - 3108008 3152058 - 3066324 3110374 - 1580863;5128626;5128622;5128619;5128621;5128627;5128617;5128618;5128614;5128623;5128625;6480464;6484113;6907045 10224351;10848907;11884474;12752323;15286446;16217591;16734609;17276963;20513521;20592918 10477722;10688814;10880230;10949031;11101310;11498591;11842302;11897983;12082592;12202242;12444154;12444155;12477932;12496276;12943658;1427903;1477296;1495999;1505961;16344560;16430207;16625214;17227823;1732409;17362254;17474147;17620072;17703412;17914408;17983872;18256354;18326494;1833065;18511572;18974840;19028820;19074885;19131662;19170670;19247692;19258923;19263529;19479237;19559392;19654410;19729601;19913121;20237496;20452482;20503287;20536507;20603037;20628086;20673868;20735756;20800603;20811626;21193198;21762978;21770429;21986312;22153509;22528658;22542470;22560479;23166209;23190752;23362303;23470716;24332579;7721873;7836416;7957082;8228251;8568239;9378992;9516124 3568 C9J3K8;C9J6C4;E7ERY4;Q01344;Q8NHV7 A24587;A26249;A26251;AB288089;AB288090;ABBA01020486;AC022002;AC024060;AK304256;AMYH02006159;AY642135;BC027599;BI520196;BX118481;CH471055;DB222974;DB229011;M75914;M96651;M96652;NG_029547;NM_000564;NM_001243099;NM_175724;NM_175725;NM_175726;NM_175727;NM_175728;U18373;X61176;X61178;X62156;XM_006713127 AAA36110;AAA59151;AAA59152;AAH27599;AAT45457;BAG49561;BAG49562;BAG65122;CAA01731;CAA01793;CAA01794;CAA43483;CAA43485;CAA44081;EAW63879;EAW63880;EAW63881;EAW63882;EAW63883;EAW63884;NP_000555;NP_001230028;NP_783851;NP_783852;NP_783853;NP_783854;NP_783855;Q01344;XP_006713190 Hs.68876 1797748;2121748;2130384;2150193 D3S4170;D3S4538;IL5RA_1995;SHGC-11976 CD125;CDw125;HSIL5R3;IL-5R-alpha;IL-5RA;IL5R;MGC26560 CD125 antigen;IL-5 receptor subunit alpha;IL-5R subunit alpha;OTTHUMP00000115257;OTTHUMP00000115373;OTTHUMP00000206892;OTTHUMP00000206893;OTTHUMP00000206894;OTTHUMP00000206895;OTTHUMP00000206896;OTTHUMP00000206919;interleukin 5 receptor type 3;interleukin-5 receptor alpha chain;interleukin-5 receptor alpha subunit;interleukin-5 receptor subunit alpha APPROVED protein-coding ENSG00000091181 HGNC:6017 00998 147851 REVIEWED 1346615 IL6STP1 interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene 1 17 17 17 p11 15612331 15624234 + 15686308 15694947 + 15782994 15791633 + 15754404;7736792 3573 ABBA01035673;ABBA01035674;ABBA01035675;AC015922;AMYH02033060;NG_002748 1687932;1689259;1743589;1744975;1797750 GDB:353576;GDB:592062;IL6ST_1708;RH47617;RH80845 IL6STP APPROVED pseudo HGNC:6022 INFERRED 737457 IL7 interleukin 7 The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. This cytokine is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB) during early T cell development. This cytokine can be produced locally by intestinal epithelial and epithelial goblet cells, and may serve as a regulatory factor for intestinal mucosal lymphocytes. Knockout studies in mice suggested that this cytokine plays an essential role in lymphoid cell survival. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their presence in normal tissues has not been confirmed.[provided by RefSeq, Dec 2010] 8 8 8 q12-q13 75648737 75721711 - 79645007 79717758 - 78732772 78805523 - 1580863;6480464;727266;6907045 10078962 10390077;10850801;11447288;11564764;11672535;11858939;11927620;11929775;12010786;12027403;12072494;12149213;12427286;12433286;12441142;12477932;12742982;12792903;12816983;12847229;12882655;14530372;14601648;14607751;14978141;15028279;15048088;15133032;15226432;15247003;15353558;15489334;15598813;15630452;15911446;15964403;15993713;16162475;16284535;16322477;16344560;16626395;16709829;16923550;16967044;17053062;17110377;17205128;17284597;17296584;17328044;17373935;17438097;17524612;17584976;17635814;17656007;17665400;17703412;17894415;17909291;17913246;17956896;18158957;18289383;18322183;18390701;18401975;18431516;18441236;18949045;18976766;19001329;19002156;19008454;19092841;19141282;19147839;19155487;19230961;19240061;19248116;19258923;19279003;19299724;19366834;19432535;19675167;19714586;19770269;19796902;19847194;19864382;19889552;19904747;19913121;19923894;20035760;20067635;20089933;20131250;20167604;20190192;20190194;20200205;20226540;20237496;20382196;20386468;20465565;20503287;20505146;20546594;20628086;20660706;20673240;20815339;21048031;21159243;21209878;21239710;21257970;21418620;21455214;21647866;21680796;21711552;21753149;21795588;21832049;21833088;21876448;21912394;21920046;21988832;22027639;22113713;22194871;22247488;22312161;22314878;22384197;22398700;22506826;22618230;22795293;22859301;22897934;22911005;22921903;22949940;22955921;23018454;23053510;23129754;23157741;23160470;23188693;2320434;23244154;2329282;23325887;23437070;23454692;23454917;23554911;23628622;23963040;23966629;24097874;24224652;24820104;2643102;2786840;7686307;7769137;8125298;8266077;8473051;8840152;8862549;9010926;9158092;9200446;9215626;9407080;9475337;9493287;9561370 3574 A8K673;P13232;Q5FBX5;Q5FBY3;Q5FBY6 AB102879;AB102880;AB102882;AB102883;AB102885;AB102893;ABBA01004082;AC083837;AK226000;AK291538;AMYH02018272;AU136355;BC032487;BC047698;CD013923;CH471068;EF064721;GQ919059;J04156;M29053;NM_000880;NM_001199886;NM_001199887;NM_001199888 AAA59156;AAC63047;AAH47698;ABK41904;ACX53627;BAD89408;BAD89409;BAD89411;BAD89412;BAD89414;BAD89422;BAF84227;EAW87060;EAW87061;EAW87062;NP_000871;NP_001186815;NP_001186816;NP_001186817;P13232 Hs.591873 1647791;1674178;1688658;1741017;1796112;2136997;7185324 D8S1626;GDB:177377;IL7_159;RH93634;STS-J04156;STS-M29049 IL-7 IL7 nirs variant 6;OTTHUMP00000227044;OTTHUMP00000227046;interleukin-7 APPROVED protein-coding ENSG00000104432 HGNC:6023 00892 146660 REVIEWED 1320295 IL7R interleukin 7 receptor The protein encoded by this gene is a receptor for interleukine 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukine 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in the V(D)J recombination during lymphocyte development. This protein is also found to control the accessibility of the TCR gamma locus by STAT5 and histone acetylation. Knockout studies in mice suggested that blocking apoptosis is an essential function of this protein during differentiation and activation of T lymphocytes. The functional defects in this protein may be associated with the pathogenesis of the severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2014] 5 5 5 p13 35746654 35762626 + 35856977 35879705 + 35856875 35879603 + 1600151;1580863;6480464;6907045;7240710;8554872;8699517 9843216 10390077;10485656;10702271;11023514;11418668;11728342;11858939;12149213;12354940;12477932;12792903;1378163;14607751;14726805;15674389;15728501;15879083;15947093;15996891;16004964;16075257;1634235;16357322;16435014;16614257;16709829;16818676;16818678;16837861;16951331;16967044;17045841;17079288;17173927;17207965;17363735;17442928;17504502;17554063;17554260;17579041;17591854;17609371;17660530;17660816;17660817;17894415;17909291;17928869;17956896;18025189;18272905;18292507;18354419;18390701;18390743;18563381;18633131;18676680;18687755;18721276;18774388;18847371;19011158;19096522;19141282;19147839;19170196;19231135;19239367;19240061;19253027;19349467;19494261;19505916;19506219;19523791;19525953;19525955;19605492;19625176;19626041;19667968;19690616;19692168;19714586;19744146;19798683;19834503;19865102;19866484;19874827;19879194;19940860;20035760;20060740;20072139;20072142;20097866;20112030;20167604;20187771;20190194;20194581;20219786;20226540;20237496;20301492;20304824;20368992;20378664;20379614;2038316;20404156;20424473;20450971;20466416;20539016;20638239;20660706;20800603;20812848;20815339;20952689;20962850;21129157;21131424;21159243;21161391;21190413;21209878;21211217;21244703;21287555;21297633;21300823;21326139;21399635;21481848;21536738;21543551;21562156;21625022;21670443;21680796;21740271;21757642;21833088;21839739;21863001;21892159;21904560;21920046;21938017;21987572;22021616;22145905;22247488;22262655;22302060;22310831;22312161;22329520;22425228;22471460;22640659;22661557;22695916;22824721;22914435;23000144;23069254;23151878;23157741;2317865;23207282;23282736;23301543;23329834;23333304;23454692;23462217;23610432;23628622;23692589;23841696;23888080;23965471;23985573;24130709;24130718;24337176;24348676;24708420;24723426;24787007;24820104;24946690;7481769;7515933;7522165;7719938;8266077;8647212;8709637;9215624;9495344;9850848 3575 B8YG18;D6RCR9;D6RDM4;D6RG28;D6RGV2;H0Y8G3;H0YA41;P16871 AA485865;ABBA01024157;ABBA01024158;AC112204;AF043123;AF043129;AF373204;AK301220;AK315251;AL713738;AMYH02011162;AY449709;BC020717;BC067537;BC067538;BC067539;BC067540;BC069999;CD703890;CH471119;FJ529208;GN344075;M29696;NG_009567;NM_002185;NR_120485;XM_005248299;XM_005248300 AAA59157;AAC83204;AAH20717;AAH67537;AAH67538;AAH67539;AAH67540;AAH69999;AAR08908;ACL80333;ADQ31999;BAG37673;BAG62793;CAY55973;EAW55924;EAW55925;NP_002176;P16871;XP_005248356;XP_005248357 Hs.591742 1689314;1790309;1794312;1796110;2149387;2151940 DXS9737;IL7R;IL7R_1228;PMC311006P5;RH80968;STS-T65739 CD127;CDW127;IL-7R-alpha;IL-7RA;IL7RA;ILRA CD127 antigen;IL-7 receptor subunit alpha;IL-7R subunit alpha;OTTHUMP00000116000;OTTHUMP00000221223;interleukin 7 receptor alpha chain;interleukin 7 receptor isoform H5-6;interleukin-7 receptor subunit alpha APPROVED protein-coding ENSG00000168685 HGNC:6024 00893 146661;608971 REVIEWED 735670 IL9R interleukin 9 receptor The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] X X;Y X;Y q28 and Yq12 155383904 155397137 + 155227246 155240482 + 57184101 57197337 + 5128704;5128699;6480464;6907045;8554872 10629460;12782818 10329852;10486269;10642536;10655549;10657622;11039580;11160343;11418623;11588013;11868823;12477932;1376929;15591265;15621723;17083349;17192395;17207965;17703412;17919707;18339896;18633131;18829468;19139102;19258923;19401191;19692168;19723899;20424473;20452482;20503287;20595916;20673868;21371865;21988832;22638550;23638223;24908389;7718508;8193355;8666384;8756628;9002663;9535918 3581 I6L9D8;Q01113 ABBA01028635;AJ271736;AK303178;AMYH02040904;AY071830;BC025298;BC051337;CH471247;L39064;M84747;NG_013238;NM_002186;NM_176786;S71404;S71420;XM_006724817;XM_006724880 AAA58679;AAB30844;AAC29513;AAD14081;AAH51337;AAL55435;ADQ32195;BAG64273;CAB96817;EAW55884;EAW55885;EAW55886;NP_002177;NP_789743;Q01113;XP_006724880;XP_006724943 Hs.406228 1679125;5038428 ECD15020;RH69191 CD129;IL-9R IL-9 receptor;OTTHUMP00000024331;OTTHUMP00000024332;interleukin-9 receptor APPROVED protein-coding ENSG00000124334 HGNC:6030 02052 300007 REVIEWED 1352385 IL9RP2 interleukin 9 receptor pseudogene 2 10 10 10 p15.3 80149 86406 - 125916 132183 - 79976 86243 - 8666384 439945 ABBA01035279;AL713922;AMYH02021966;L39063;NG_009864 1340876;1743119;1843592;2046602;2046626 D10S2487;ECD23006;GDB:266648;REN94428;REN94441 FLJ40100 pseudo HGNC:6032 INFERRED 1342838 IL9RP3 interleukin 9 receptor pseudogene 3 16 16 16 p13.3 284351 288406 - 78928 86491 - 28928 36491 - 8666384 729486 AMYH02031177;L39062;NG_009865;Z84723 1340876;1679125;1743117;1743119;1798836;1800552;1804066;1815084;1815804;1822374;1828240;1832764;1843592;2046586;2046588;2046590;2046592;2046594;2046596;2046598;2046600;2046602;2046604;2046606;2046608;2046610;2046612;2046614;2046616;2046618;2046620;2046622;2046624;2046626;2046628;2046630;2046632;2046634;2046636;2046638;2046640;2046642;2046644;2046646;2046648;2104318;2104320;2104322;2104324;2104326 D10S2487;ECD00258;ECD01137;ECD02950;ECD08575;ECD08942;ECD12275;ECD15245;ECD17523;ECD23006;GDB:266645;GDB:266648;REN94419;REN94420;REN94421;REN94422;REN94424;REN94425;REN94426;REN94427;REN94428;REN94429;REN94430;REN94431;REN94432;REN94433;REN94434;REN94435;REN94436;REN94437;REN94438;REN94439;REN94441;REN94442;REN94443;REN94444;REN94445;REN94446;REN94447;REN94448;REN94449;REN94450;REN94451;REN94452;RH69191;stSG608815;stSG608820;stSG608821;stSG608822;stSG608823 pseudo HGNC:6033 INFERRED 736525 IL6R interleukin 6 receptor This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011] 1 1 1 q21 127449298 127511851 + 154377669 154441926 + 154405193 154469450 + 1625433;1625431;1625434;1625435;1625441;1625444;1625429;1625430;729416;1625428;1625432;1580863;5128666;5128632;5128675;5128662;5128631;5128630;5686834;5686839;6480464;6484113;6907045;7829723;7829750 10420202;11778537;12123772;12591161;12818091;12917504;14962155;16056242;16458979;16817825;16983050;17095650;17434052;17496315;20019339;20519054;20951753;21115736;2174054;21881215;22029668 10066782;10462375;10510402;10777583;10785334;10982829;11017875;11238858;11884403;12002769;12008038;12079407;12372336;12412787;12414855;12419823;12445803;12461182;12472176;12477932;12553038;12553555;12574959;12633863;12643274;12748171;12748876;12789531;1281789;12829785;12832423;12857602;1381187;14557255;14592826;14718574;15041717;15063602;15100312;15166129;15213442;15284182;15297310;15306846;15456942;15489334;15561970;15562008;15579373;15625895;15641051;15816827;15857508;15895091;16034137;16127269;16270750;16372246;16557588;16710414;16731080;16794539;16899024;16912152;16973585;17151125;17160948;17310346;17313958;17346257;17357077;17519976;17570254;17619842;17652155;17671508;17703412;17898129;17903307;17908769;17984249;18065760;18276608;18320358;18439548;18464913;18490707;18508242;18538149;18543249;18676680;18719127;1872801;18781131;18784373;18818748;18852330;18853133;1889804;18971377;18980999;19019335;19026125;19088723;19124510;19170196;19258923;19277666;19280716;19336475;19396608;19406470;19420002;19422646;19453261;19495883;19503017;19505916;19527514;19567438;19573080;19625176;19633828;19665805;19671870;19692168;19713205;19733878;19773279;19773451;19790045;19877065;19913121;19914334;19926672;19966016;20017315;20026129;20031577;20083667;20140262;20145925;20157327;20159251;20186139;20197062;20237496;20379614;20423763;20438838;20452482;20453000;20463041;20484876;20503287;20551110;20568250;20599261;20600579;20628086;20661738;20673868;20698883;20727736;20800603;20811626;20823887;20839491;20856253;20974296;2112585;21159831;21173340;21196890;21220034;21229891;21255427;21282511;21295508;21300955;21401300;21490132;21496483;21515913;2157217;21700295;21748280;21813064;21835044;21846873;21851175;21879314;21907864;21968316;21981268;21989726;22072558;22079540;22128229;22133618;22209080;22295972;22319020;22421339;22449275;22552503;22554704;2261637;22642608;22742541;22761857;22911828;22984080;23073775;23078005;23094986;23242610;23375120;23428306;23479153;23564454;23582566;23582716;23593036;23594084;23648090;23658720;23677452;23771909;23782174;23902164;23926072;23935104;23945879;23969696;24032723;24114630;24118365;24152848;24165468;24285489;24346288;24390342;24429361;24498998;24561123;24642471;24668548;24710939;24790088;24878322;24978393;2529343;2788034;3136546;8056053;8125298;8265649;8428753;8450224;8467812;8889549;9169421;9927325 3570 A0N0L5;D6R9R8;H0Y949;H0Y9B1;P08887 AA035377;ABBA01049484;ABBA01049485;ABBA01049486;ABBA01049487;AF104230;AK223582;AK293013;AK312730;AL162591;AMYH02001924;AMYH02001925;BC035327;BC089410;BC132684;BC132686;BM911928;CH471121;CS068586;EF064723;NG_012087;NM_000565;NM_001206866;NM_181359;S72848;X12830;X58298;XM_005245139;XM_005245140;XM_006711298;XM_006711299 AAC60635;AAH89410;AAI32685;AAI32687;ABK41906;ADR83189;ADR83368;BAD97302;BAF85702;BAG35601;CAA31312;CAA41231;CAI84624;EAW53199;EAW53200;EAW53201;NP_000556;NP_001193795;NP_852004;P08887;XP_005245196;XP_005245197;XP_006711361;XP_006711362 Hs.135087 1666271;1735020;1791696;1792396;1796108;1856645;2130719;2143327;5015404;5015861;5016478;5022200;5022578;5022651;5024413;5117046;5120552;7185938 D10S16;D11S2921;D1S1423;D1S1816E;D1S2375;GDB:353581;GDB:386402;GDB:434012;IL6R_1457;L17705;L17877;L18426;PMC119947P1;PMC150666P1;RH16347;RH69094;SHGC-34808 CD126;IL-6R 1;IL-6R-1;IL-6R-alpha;IL-6RA;IL6Q;IL6RA;IL6RQ;MGC104991;gp80 CD126 antigen;IL-6 receptor subunit alpha;IL-6R subunit alpha;OTTHUMP00000034320;OTTHUMP00000217867;OTTHUMP00000217870;interleukin 6 receptor alpha subunit;interleukin-6 receptor subunit alpha;membrane glycoprotein 80 2314803 GLUCO119_H APPROVED protein-coding ENSG00000160712 HGNC:6019 01000 147880;614689;614752 REVIEWED 1352105 IL9RP4 interleukin 9 receptor pseudogene 4 18 18 p11.32 79721 88561 - 79721 88561 - 8666384 100132166 ABBA01049800;ABBA01049801;AMYH02034183;AP001005;NG_030061 pseudo HGNC:6034 INFERRED 735276 IL9 interleukin 9 The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 131352664 131356247 - 135227935 135231516 - 135892246 135895827 - 1580863;5128699;5128684;5128700;5128694;5128702;5128689;5128686;5128687;5128683;5128685;5128690;5128696;5128691;5128692;5128707;6480464;6907045 11306428;12153980;12782818;14605067;15007348;15051283;15303135;15531759;15632004;17446528;19915054;20503287;20525149;21062445;21356110 10464327;11115404;11588013;11842292;11937570;12082592;12477932;12482498;12588703;12594054;12646606;12789235;14722888;15123239;15128795;15289339;15372022;15489334;15621723;15699153;15713213;15735688;16322282;16611254;16763206;1680606;17083349;17517104;17541281;17703412;18032114;18298822;18339896;18349591;18633131;18974840;19005922;1901233;19028820;1903074;1908723;19131662;19258923;19263529;19387455;19536153;19559392;19573080;1971295;19729601;19773279;19845895;19913121;20020328;20159257;20237496;20306823;20332709;20452482;20498357;20568250;20595916;20628086;20673868;20674401;20861646;2129501;21360526;21371865;21418620;21498517;21765905;21807780;21898141;22612419;22772464;22841205;22841206;22971662;23034251;23376058;23700286;24023645;24032555;24216482;24468256;24487305;2508790;7544789;7666875;8379467;8516290;8756628;9371819 3578 P15248;Q6NZ75 ABBA01068720;AC002428;AC004763;AF361105;AMYH02012261;BC066283;BC066284;BC066285;BC066286;BC066287;CH471062;M30134;M30135;M86593;NM_000590;S63356;X17543 AAA35887;AAA36400;AAA59161;AAB19823;AAB66904;AAC17735;AAH66283;AAH66284;AAH66285;AAH66286;AAH66287;AAK26666;CAA35581;EAW62204;NP_000581;P15248 Hs.960 1778294;1789332;2121662 G67882;GDB:180249;STS-M30134 HP40;IL-9;P40 OTTHUMP00000159423;T-cell growth factor p40;cytokine P40;homolog of mouse T cell and mast cell growth factor 40;interleukin-9;p40 T-cell and mast cell growth factor;p40 cytokine APPROVED protein-coding ENSG00000145839 HGNC:6029 00910 146931 REVIEWED 1348957 ILDR1 immunoglobulin-like domain containing receptor 1 This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 3 3 3 q13.33 120115851 120150704 - 121706170 121741127 - 121987323 122022280 - 737633;1580863;6480464;7240710;8554872;8699517 12477932 14702039;15381095;15489334;15641023;18976975;20379614;21255762;22190364;22365942;23239027 286676 Q86SU0 ABBA01016473;AC080098;AK129974;AMYH02007534;AY134857;AY672837;AY672838;AY672839;BC044240;CH471052;NG_031870;NM_001199799;NM_001199800;NM_175924;XM_005247389;XM_006713606;XM_006713607 AAH44240;AAN10256;AAT77412;AAT77413;AAT77414;BAC85264;EAW79495;NP_001186728;NP_001186729;NP_787120;Q86SU0;XP_005247446;XP_006713669;XP_006713670 Hs.98484 1341381;1700260;2120531 D3S3720;G09825;RH103747 DFNB42;ILDR1alpha;ILDR1alpha';ILDR1beta;MGC50831 OTTHUMP00000215507;OTTHUMP00000215508;OTTHUMP00000215509;OTTHUMP00000215510;deafness, autosomal recessive 42;immunoglobulin-like domain-containing receptor 1;immunoglobulin-like domain-containing receptor 1 alpha;immunoglobulin-like domain-containing receptor 1 alpha';immunoglobulin-like domain-containing receptor 1 beta APPROVED protein-coding ENSG00000145103 HGNC:28741 13735 609646;609739 REVIEWED 7175936 ILF2P1 interleukin enhancer binding factor 2 pseudogene 1 3 3 3 65689525 65690926 + 65672931 65674332 + 65687256 65688657 + 100421506 ABBA01024300;AC099058;AMYH02006967;NG_025702;NG_029778 pseudo HGNC:44695 INFERRED 1345788 ILDR2 immunoglobulin-like domain containing receptor 2 INVOLVED IN cell differentiation (inferred); homeostasis of number of cells within a tissue (inferred); insulin secretion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH atrazine; methyl methanesulfonate; valproic acid 1 1 1 q24.1 139993130 140049695 - 166882441 166944576 - 166913204 166988992 - 6480464;8554872 16710414;17286855;19064610;19536175;20379614;23000965 387597 E9PLS0;E9PNU3;E9PPL0;E9PQC8;E9PR23;E9PRA4;Q71H61 ABBA01047254;ABBA01047255;ABBA01047256;ABBA01047257;AF503509;AL009182;AL158837;AMYH02002080;CH471067;DQ980599;NM_199351;XM_005245145;XM_006711308;XM_006711309;XM_006711310;XM_006711311;XM_006711312;XM_006711313;XM_006711314;XR_426773 AAI48433;AAQ07593;EAW90779;NP_955383;Q71H61;XP_005245202;XP_006711371;XP_006711372;XP_006711373;XP_006711374;XP_006711375;XP_006711376;XP_006711377 Hs.444835 1667663;1676093;1690059;1696728;1789022;1789180;2130002;2132397;2180082 AL009949;D1S3032;G65589;G65644;RH71166;RH79638;RH98540;SHGC-77886;WI-15586 C1orf32;RP4-782G3.2;dJ782G3.1 LISCH-like;OTTHUMP00000032212;OTTHUMP00000235842;OTTHUMP00000235844;OTTHUMP00000235845;OTTHUMP00000235846;OTTHUMP00000235847;immunoglobulin-like domain-containing receptor 2 protein-coding HGNC:18131 12724 VALIDATED 1343712 IL9RP1 interleukin 9 receptor pseudogene 1 9 9 9 q34.3 111560512 111568060 + 141032081 141036062 + 138137629 138141610 + 8666384 100128449;3582 ABBA01022796;AL591424;AMYH02021952;NG_030094 pseudo HGNC:6031 INFERRED 7176094 ILF2P2 interleukin enhancer binding factor 2 pseudogene 2 14 14 14 q13.2 16386389 16387783 - 36523203 36524597 - 36053997 36055391 - 644616 ABBA01061518;AL133304;AMYH02029018;NG_022839 1649661;2182552 1586;D14S1187 pseudo HGNC:44696 INFERRED 1313940 ILF2 interleukin enhancer binding factor 2 The protein encoded by this gene is the 45 kDa component of nuclear factor of activated T-cells (NFAT), a heterodimer of 45 kDa and 90 kDa proteins. NFAT is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The complex has been shown to repair DNA breaks by nonhomologous end joining and can also negatively regulate the microRNA processing pathway. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [provided by RefSeq, Jun 2012] 1 1 1 q21.3 126705693 126714660 - 153634264 153643504 - 153661788 153671028 - 1580863;6480464 10320367;10574923;11101529;11438540;11739746;11790298;11804788;11958450;12429849;12477932;12565831;12777385;14559993;15489334;15635413;15817156;16055709;16169070;16189514;16196087;16710414;17289661;17332742;17389650;17643375;18029348;18458058;18781797;19398578;19454010;19471022;19738201;19893574;19946888;20000738;20020773;20051514;20237496;20462248;20508642;20639865;20808282;21081666;21110914;21139048;21145461;21146485;21182205;21282530;21319273;21642987;21693764;21823664;21853274;21890473;21906983;21963094;21969602;21987572;22053931;22174317;22178446;22268729;22505724;22586326;22623428;22751105;22797925;22863883;22939629;23000965;23084401;23125841;23129811;23151878;23246001;23443559;23455922;23463506;23502783;23825951;23973329;24332808;24457600;24591637;24816145;25027693;7519613;8125298;8974006;9442054 3608 B4DY09;F4ZW62;Q12905;Q53FG3;X6R6Z1 ABBA01049443;AK223326;AK302214;AK310615;AK313364;AL592150;AL713889;AMYH02001904;AY099265;BC000382;BM800544;BX450311;CH471121;DC412988;HQ322261;HQ322262;NM_001267809;NM_004515;U10323 AAA20993;AAH00382;AAM45141;ABM82304;ABM85481;AEE02016;AEE02017;BAD97046;BAG36164;BAG63571;CAI18796;EAW53285;EAW53286;NP_001254738;NP_004506;Q12905 Hs.75117 1658995;1850402;1852281;2182131;2182552;5127053 A007E12;Cda0cg07;D14S1187;RH12842;RH70555;WI-15073 MGC8391;NF45;PRO3063 OTTHUMP00000035158;interleukin enhancer binding factor 2, 45kD;interleukin enhancer binding factor 2, 45kDa;interleukin enhancer-binding factor 2;nuclear factor of activated T-cells 45 kDa;nuclear factor of activated T-cells, 45-kDa APPROVED protein-coding ENSG00000143621 HGNC:6037 04419 603181 REVIEWED 6893050 ILF3-AS1 ILF3 antisense RNA 1 (head to head) 19 19 19 p13.2 10657288 10659298 - 10762538 10764548 - 10651862 10653872 - 12477932;16344560 147727 ABBA01029905;AC011475;AF439744;AK075016;AL832185;AMYH02035500;BC007593;BC014670;BC044911;DB002247;NG_029220;NR_024333 AAR01499 Hs.631616 5014029;5016478;5037552;5037554;5109281 D13S1639;D1S1425;D8S2279;D8S2282;GDB:434012 ncrna ENSG00000267100 HGNC:27115 VALIDATED 1346718 ILF3L interleukin enhancer binding factor 3-like 7519613 3610 HGNC:6039 731409 IL6ST interleukin 6 signal transducer The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014] 5 5 5 q11.2 52184738 52244652 - 55230923 55290821 - 55935095 55994993 - 737752;737751;1580863;1627571;1627572;1626687;1626706;1627046;1627568;1626686;1625428;1625432;5509945;5686834;5686839;5686900;6480464;6484113;6907045 10219240;11778537;12219085;12917504;14597225;14614900;15469886;15538938;15780071;17664290;18280048;20626857;21881215;22029668;8843746 10026196;10504396;10579793;10744750;10777583;10800945;10811661;10880057;10946280;10954742;10982829;11098061;11121117;11251120;11285233;11468294;11557047;11689697;11742534;11781191;11786531;11821958;11834704;11877042;11884403;11920233;11952536;12030375;12039911;12047380;12161539;12234945;12361954;12372336;12386808;12403768;12434062;12472176;12477932;12643274;12707266;12707269;12782602;12819039;12829785;12830005;14504285;14557255;14676217;14718574;14764685;14764690;15081423;15129430;15133123;15184896;15292206;15677447;15721840;15754404;15809742;15895091;15944400;16051226;16141642;1617725;16254248;16274960;16335952;16344560;16524883;16646038;16728717;16774741;16909117;16973585;17028186;17053039;17081983;17404609;17436251;17519976;17530315;17619842;17652155;17885560;17926108;17961593;17979974;17997171;18060032;18223637;18246092;18292582;18320358;18469182;18519587;18549508;18573283;18684959;18775332;18986700;19020503;19074885;19124510;19213859;19240061;19330911;19336475;19379608;19386761;19422646;19453261;19460752;19573080;19623024;19665497;19665805;19730683;19773279;19850743;19913121;19915009;19946888;20103703;20200229;20237496;20309664;20348091;20453842;20489211;20554759;20568250;20584990;20585009;20600579;20628086;20628624;20660911;20728947;20869059;21139048;21173340;21220115;21225514;21282511;21944124;21981268;21989726;22457856;22520363;22523320;2261637;22742541;22814105;23128233;23209286;23253440;23294003;23372742;23375201;23382691;23398366;23428306;23536726;23686311;23782174;23782265;23813018;23818941;24082147;24191003;24498998;24629561;24712547;25076298;2788034;7736792;8353278;8390097;8511589;8547494;8999038;9013873;9126968;9188471;9195977;9256256;9353320;9388212;9501088 3572 D6RH03;P40189;Q17RA0;Q5FC02;Q5FC05;Q5FC07 AB015706;AB074172;AB102799;AB102800;AB102801;AB102802;AB102803;AB102804;ABBA01015755;AC008857;AC008914;AC016596;AL049265;AMYH02011322;AMYH02011323;AW015107;BC071555;BC117402;BC117404;BC143842;BQ013034;CH471123;DA863210;DA877322;EF064722;M57230;NM_001190981;NM_002184;NM_175767;NR_120480;S80479;U58146;U70617;XM_005248496 AAA59155;AAB35921;AAB63010;AAI17403;AAI17405;ABK41905;ADR83277;BAA78112;BAD89390;BAD89391;BAD89392;BAD89393;BAD89394;BAD89395;EAW54936;EAW54937;EAW54938;NP_001177910;NP_002175;NP_786943;P40189;XP_005248553 Hs.532082;Hs.706627 1651398;1667826;1671642;1729573;1743589;1744975;1797750;2164565;2172402;2175651;5120550;7185890 D17S58;D5S2597;G24196;GDB:353575;GDB:353576;GDB:592062;IL6ST_1708;RH15643;RH15655;RH17700;SHGC-58193 CD130;CDw130;DKFZp564F053;GP130;GP130-RAPS;IL-6R-beta;IL-6RB;IL6R-beta CD130 antigen;IL-6 receptor subunit beta;IL-6R subunit beta;IL6ST nirs variant 3;OTTHUMP00000122545;OTTHUMP00000221874;OTTHUMP00000221875;OTTHUMP00000232384;gp130 of the rheumatoid arthritis antigenic peptide-bearing soluble form;gp130 transducer chain;gp130, oncostatin M receptor;interleukin receptor beta chain;interleukin-6 receptor subunit beta;interleukin-6 signal transducer;membrane glycoprotein 130;membrane glycoprotein gp130;oncostatin M receptor;oncostatin-M receptor subunit alpha APPROVED protein-coding ENSG00000134352 HGNC:6021 02824 600694 REVIEWED 731849 ILKAP integrin-linked kinase-associated serine/threonine phosphatase The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 232791584 232824882 - 239079043 239112343 - 238170402 238203695 - 1580863;2300344;6480464 16493410 11230166;11331582;12477932;14702039;14990992;15489334;15815621;17081983;18635968;19019082;21139048;21782789;21890473;22053931;22359512;23329845;24250222;24816145;9857069 80895 E9PC05;F8SNU7;H7C2I8;Q9H0C8 ABBA01042603;AC016757;AK001043;AK055417;AL136850;AMYH02006071;AMYH02006072;AY024365;BC006576;BC035746;BC050422;CH471063;CR533533;FJ491380;FJ491381;HQ658059;HQ658060;NM_030768;XM_005246106;XM_006712784 AAH06576;AAK07736;AAY24336;ABM83726;ABM87046;ACE86849;ACE87536;ACL54845;ACL54846;AEI30977;AEI30978;BAG50851;CAB66784;CAG38564;EAW71145;EAW71146;NP_110395;Q9H0C8;XP_005246163;XP_006712847 Hs.92033 1854483;2115377;2140179;5014051 D2S1671E;D8S2278;RH45648;SHGC-52537 DKFZp434J2031;FLJ10181;ILKAP2;ILKAP3;MGC4846;PP2C-DELTA OTTHUMP00000164472;integrin-linked kinase associated phosphatase;integrin-linked kinase-associated serine/threonine phosphatase 2C;protein phosphatase 2c;protein phosphatase 2c, delta isozyme APPROVED protein-coding ENSG00000132323 HGNC:15566 17147 REVIEWED 8694499 IMMP1LP1 IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 1 11 11 11 q13.1 60723708 60724209 + 63399666 63400293 + 63632194 63632821 + 729101 ABBA01003256;AMYH02024913;AP000753;NG_030175;NG_033985 pseudo HGNC:51131 INFERRED 1317496 ILVBL ilvB (bacterial acetolactate synthase)-like The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15121522 15132314 - 15225785 15236610 - 15114974 15125799 - 1580863;6480464 12477932;16169070;17314511;19946888;20562859;21139048;21145461;21890473;21988832;22678362;22939629;22990118;23246001;23275563;23455922;23798571;24250222;24255178;25027693;8889548;8954801 10994 A1L0T0;E9PJS0;E9PL44;E9PNL1;M0QZX5;M0R026;M0R1B5 AB209065;ABBA01051097;AC003956;AC004794;AMYH02035642;BC000109;BC011722;BC011761;BC126913;BM676342;CH471106;HY011076;NM_006844;U61263;XM_005259717 A1L0T0;AAB94632;AAC50934;AAH00109;AAH11722;AAH11761;AAI26914;ADZ15565;BAD92302;EAW84464;NP_006835;XP_005259774 Hs.78880 1654850;1665591;1734682;1767600;2109433;2147440;2159169;2170957;2175003;2175005;5016851 D19S647E;D19S686E;D19S825;D19S849;ILVBL_9207;RH12226;RH12349;RH48649;RH80031;SGC33062;WI-11575 209L8;AHAS;ILV2H;MGC1269;MGC19535 OTTHUMP00000230512;acetolactate synthase homolog;acetolactate synthase-like protein;ilvB-like protein APPROVED protein-coding ENSG00000105135 HGNC:6041 16152 605770 REVIEWED 731671 ILF3 interleukin enhancer binding factor 3, 90kDa This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein was first discovered to be a subunit of the nuclear factor of activated T-cells (NFAT); a transcription factor required for T-cell expression of interleukin 2. NFAT is a heterodimer of 45 kDa and 90 kDa proteins, the larger of which is the product of this gene. These proteins have been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth; possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2008] 19 19 19 p13.2 10659687 10697851 + 10764937 10803095 + 10654261 10692419 + 1580863;6480464 10320367;10400669;10574923;10607473;10684936;10749851;11161820;11167023;11438536;11438540;11739746;11777942;11850402;11958450;12429849;12477932;12504009;12565831;12704081;12777385;12946349;1438302;14570900;14654356;14702039;15254228;15302935;15303970;15489334;15576338;15635413;15782174;15811368;15851029;16055709;16094384;16169070;16189514;16196087;16964243;17081983;17125513;17220478;17289661;17332742;17389650;17565699;17620599;17643375;17765891;18029348;18039850;18097023;18337511;18457437;18458058;18490444;18781797;19116932;19135240;19398578;19454010;19494010;19710015;19738201;19893574;19913121;19946888;20020773;20051514;20360068;20508642;20628086;20668518;21081666;21139048;21145461;21252943;21282530;21319273;21347509;21364984;21386893;21468600;21549307;21554248;21642987;21811582;21853274;21890473;21906983;21963094;21969602;21971700;21987769;22174317;22268729;22365833;22442257;22505724;22623428;22751105;22797925;22889411;22939629;22952844;22986534;23000965;23084401;23117626;23125841;23151878;23246001;23251661;23443559;23455922;23463506;23825951;23874603;23965975;23976881;24147044;24332808;24457600;24583282;24591637;24623135;24639526;24816145;25027693;7519613;8619474;8885239;8889548;9110174;9442054;9620363;9843854 3609 K7EJ09;K7EKJ9;K7EKY0;K7ELV3;K7EM82;K7EMZ8;K7ENK6;K7EPG3;K7EQ75;K7EQR9;K7ER69;K7ERM6;Q12906 AB209062;ABBA01029902;ABBA01029903;ABBA01029904;ABBA01029905;AC011475;AF007140;AF141870;AF147209;AF167569;AF167570;AF202445;AF320244;AF320247;AJ271741;AJ271744;AJ271745;AJ271746;AK000018;AK023222;AK025821;AK291205;AK291617;AK293170;AK294084;AL832528;AMYH02035500;AW576353;AY240961;BC001770;BC003086;BC014221;BC018633;BC048314;BC064836;BM973331;CH471106;CR457223;DC320902;HQ322263;HQ322264;HQ322265;NG_029220;NM_001137673;NM_004516;NM_012218;NM_017620;NM_153464;U10324;X98264;X98265;XM_005259895;XM_006722742 AAA20994;AAC19152;AAD33966;AAD37575;AAD51098;AAD51099;AAF82685;AAF82686;AAF82687;AAH48314;AAH64836;AAK07424;AAK07425;AAP68989;AEE02018;AEE02019;AEE02020;BAA90887;BAB15245;BAD92299;BAF83894;BAF84306;BAG56714;BAG57425;CAA66917;CAA66918;CAC01121;CAC01122;CAC01123;CAC01124;CAC01404;CAC01405;CAC01406;CAG33504;EAW84131;EAW84132;EAW84133;EAW84134;EAW84135;EAW84136;EAW84137;NP_001131145;NP_004507;NP_036350;NP_060090;NP_703194;Q12906;XP_005259952;XP_006722805 Hs.465885 1685143;1703670;1740871;1749989;2111506;2138509;2139812;2163297;2163299;2166961;2191403 A006U48;D19S1141;D20S1081;D20S1086;MARC_21355-21356:1023203034:1;RH17990;RH80501;SHGC-111693;SHGC-78821;WI-14147;WI-19631 CBTF;DRBF;DRBP76;MMP4;MPHOSPH4;MPP4;NF-AT-90;NF110;NF110b;NF90;NF90a;NF90b;NFAR;NFAR-1;NFAR2;TCP110;TCP80 M-phase phosphoprotein 4;double-stranded RNA-binding protein 76;double-stranded RNA-binding protein, 76 kD;dsRNA binding protein NFAR-2/MPP4;interleukin enhancer binding factor 3;interleukin enhancer binding factor 3, 90kD;interleukin enhancer-binding factor 3;nuclear factor associated with dsRNA;nuclear factor of activated T-cells 90 kDa;nuclear factor of activated T-cells, 90 kD;translational control protein 80 APPROVED protein-coding ENSG00000129351 HGNC:6038 04420 603182 REVIEWED 732855 ILK integrin-linked kinase This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 11 11 11 p15.4 6744031 6751167 + 6624938 6632105 + 6603708 6610874 + 1580863;633110;2301729;2302091;2301734;2301731;2301733;2300344;6480464;6907045;5490966;8554872 11304546;11448915;11704830;12629168;15704679;16493410;18336616;18772397 10022929;10601309;10712922;10871859;11078733;11278835;11313365;11331308;11331582;11402068;11445557;11546794;11694518;11696434;11724787;11825911;11856758;11931630;12020426;12020826;12060675;12149249;12152651;12164932;12167643;12176337;12220642;12372433;12432066;12477932;12600888;12642872;12654898;12665801;12670870;12686550;12771992;12778079;12884912;12925691;12960424;14500673;14551191;14555513;14679308;14749128;15044083;15073119;15284246;15304053;15313908;15340074;15467740;15489334;15565145;15722199;15802621;15867245;15882985;15905178;16189514;16407822;16421303;16517730;16611685;16648553;16712791;16799642;16818815;16836071;16936772;16951248;16987993;17088456;17107957;17143519;17187779;17213807;17298394;17335036;17353931;17420447;17468516;17498677;17526737;17553790;17563721;17575101;17646580;17656471;17951996;18037995;18080083;18214046;18252715;18283114;18327965;18339839;18464290;18505933;18635968;18660489;18727519;18773488;18813944;18823942;19020711;19074270;19117955;19118217;19118218;19147542;19153670;19334037;19409087;19463178;19478459;19489119;19541809;19567202;19633364;19676046;19738201;19829382;19885839;19946888;20005845;20091050;20113654;20164304;20232298;20305688;20460506;20493167;20495362;20546345;20625942;20725137;20827300;20838383;20838384;20857141;21035499;21084641;21139048;21145461;21177334;21196412;21234586;21278793;21339732;21347395;21351095;21521694;21553049;21601006;21602880;21621326;21639857;21643011;21680733;21688303;21719054;21778429;21828040;21890473;21900206;21906983;21928230;21939655;21941415;21963094;21987572;21988832;22053931;22194624;22268729;22310280;22340785;22345562;22441983;22482400;22490953;22568984;22570869;22616551;22638656;22658851;22666394;22677169;22683084;22763012;22767580;22814720;22863883;22938462;22939624;23000965;23027626;23065574;23108908;23186335;23435415;23455922;23667531;23703635;23707970;23729269;23739974;23747271;23748822;23783575;23784942;23801886;23832543;23863169;24040439;24064223;24260102;24299190;24356468;25036637;8538749;9177792;9366252;9736715;9737788 3611 E9PQ27;E9PQ52;Q13418;V9HWF0 AB209416;ABBA01028670;AC091564;AF244139;AJ404847;AK293474;AK296628;AK314843;AMYH02024271;BC001554;CB113885;CH471064;CR407673;CR749220;DC379936;DC380243;EU794625;HY257434;KF510380;NG_029702;NM_001014794;NM_001014795;NM_001278441;NM_001278442;NM_004517;U40282;XM_005252904;XM_005252905 AAC16892;AAF74449;AAH01554;ABM82098;ABM85281;ACJ13679;BAD92653;BAH11516;BAH12404;CAB99253;CAG28601;CAH18077;EAW68688;EAW68689;EAW68690;NP_001014794;NP_001014795;NP_001265370;NP_001265371;NP_004508;Q13418;XP_005252961;XP_005252962 Hs.706355 1651801;1652942;1771151;2115101;2217488;5022200;5037552 A002C40;D8S2279;ILK_2854;L18426;RH12375;WI-12713;WI-22555 DKFZp686F1765;HEL-S-28;ILK-1;ILK-2;P59;p59ILK 59 kDa serine/threonine-protein kinase;OTTHUMP00000164591;OTTHUMP00000229991;OTTHUMP00000229995;OTTHUMP00000229996;epididymis secretory protein Li 28;integrin-linked kinase-2;integrin-linked protein kinase APPROVED protein-coding ENSG00000166333 HGNC:6040 03842 602366 REVIEWED 1601711 IMMP1L IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep 2008] 11 11 11 p13 31601371 31678615 - 31453948 31531169 - 31432401 31509622 - 6480464;8554872 12477932;14702039;15489334;15814844;16554811;19913121;20628086 196294 E9PIG6;E9PNR7;E9PR99;H0YD09;Q96LU5 ABBA01060926;ABBA01060927;AC108456;AK057788;AK310496;AK311611;AL133295;AMYH02024545;BC023595;CH471064;KC877402;NM_144981;XM_005252811;XM_005252812;XM_005252814;XM_005252815;XM_006718167;XM_006718168;XR_242781 AAH23595;BAB71573;CAC39221;EAW68239;EAW68240;NP_659418;Q96LU5;XP_005252868;XP_005252869;XP_005252871;XP_005252872;XP_006718230;XP_006718231 Hs.502223 1701144;1736993;5112205 D11S2721;RH102333;RH104200 FLJ25059;IMP1;IMP1-LIKE OTTHUMP00000232217;OTTHUMP00000232220;mitochondrial inner membrane protease subunit 1 APPROVED protein-coding ENSG00000148950 HGNC:26317 08048 612323 PROVISIONAL 6481053 IMMP2L-IT1 IMMP2L intronic transcript 1 (non-protein coding) q31.1 100874335 AC073326;AI674788 Hs.670103 ncrna HGNC:41402 8695911 IMMP1LP2 IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 2 12 12 12 113080431 113122499 + 113453412 113495511 + 113015607 113058152 + 22589738 100506734 AC004551;AC078924;AC089999;XR_429208 pseudo HGNC:51132 MODEL 1345312 IMMTP1 inner membrane protein, mitochondrial (mitofilin) pseudogene 1 21 21 21 q22.3 31203079 31205715 - 46095445 46098082 - 44675528 44678165 - 10830953;23831462 54045 ABBA01074169;AL773602;AMYH02037917;KC877926;NG_000919;NG_033806 IMMTP APPROVED pseudo HGNC:6048 INFERRED 1321729 IMMT inner membrane protein, mitochondrial ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mitochondrial calcium ion homeostasis (inferred); response to cold (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; mitochondrial inner membrane; mitochondrion; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; atrazine; cadmium sulfate 2 2 2 p11.2 86199197 86251038 - 86371055 86423264 - 86143932 86195770 - 1580863;6480464;8554872 10830953;11239393;12469345;12477932;14623284;14667819;15231747;15383276;15489334;15647377;15840729;1602151;16169070;16713569;17043677;17624330;19615732;19738201;19762472;19946888;20186120;20562859;20877624;20880836;21139048;21163940;21252943;21890473;21900206;21906983;21988832;22114354;22228767;22268729;22304920;22354994;22360420;22586326;22623428;22939629;22990118;23000965;23058921;23275563;23463506;23464991;23704930;23798571;24250222;24457600;24583282;24639526;8039717;8125298;8889548;8889549;9168817;9184228 10989 B9A067;C9J406;D6RAW4;H7C463;Q16891 ABBA01075772;ABBA01075773;ABBA01075774;ABBA01075775;AC009309;AF148646;AK225780;AK296676;AK299014;AK299596;AK300017;AK304197;AK309004;AK312251;AMYH02004191;AY232292;AY921637;BC002412;BC005983;BC027458;BC107419;BU729109;BX537369;CH471053;CR456793;CR749590;D21091;D21092;D21093;D21094;DC403234;L42572;NM_001100169;NM_001100170;NM_006839;XM_005264110;XM_005264113;XM_005264114 AAA85336;AAF73126;AAH02412;AAH05983;AAH27458;AAI07420;AAP69987;AAX10024;ACE86478;ACE87159;BAA04653;BAA04654;BAA04655;BAA04656;BAG35183;BAG59273;BAG61094;BAG61528;BAG61832;BAG65077;CAD97612;CAG33074;CAH18389;EAW99462;EAW99463;NP_001093639;NP_001093640;NP_006830;Q16891;XP_005264167;XP_005264170;XP_005264171 Hs.148559 1666368;1725753;1847129;1851967;2217492 D2S2583;G62066;IMMT_3782;RH17386;WI-11380 DKFZp779P1653;HMP;MGC111146;MINOS2;P87;P87/89;P89;PIG4;PIG52 OTTHUMP00000203278;OTTHUMP00000203279;OTTHUMP00000203280;OTTHUMP00000209559;OTTHUMP00000209560;OTTHUMP00000225436;cell proliferation-inducing gene 4/52 protein;cell proliferation-inducing protein 52;mitochondrial inner membrane organizing system 2;mitochondrial inner membrane protein;mitofilin;motor protein;proliferation-inducing gene 4 APPROVED protein-coding ENSG00000132305 HGNC:6047 02658 600378 VALIDATED 1605599 IMP4 IMP4, U3 small nucleolar ribonucleoprotein IMP4 forms a ternary complex with IMP3 (MIM 612980) and MPP10 (MPHOSPHO10; MIM 605503) that interacts with U3 small nucleolar RNA (snoRNA), which is required for the early cleavage steps in pre-rRNA processing (Granneman et al., 2003 [PubMed 12655004]).[supplied by OMIM, Aug 2009] 2 2 2 q21.1 124373830 124377539 + 131100470 131104197 + 130342897 130346624 + 6480464;6907045;8554872 11790298;12477932;12655004;14565981;15489334;15635413;15815621;21139048;21832049;21890473;21906983;24654937;8619474;9110174 92856 B8ZZ47;B9A008;E7ENR5;F8WCN0;H0Y714;Q96G21 ABBA01017957;AC132479;AF054996;AK289878;AK292345;AK312808;AMYH02004775;AY364245;BC010042;CH471263;NM_033416;XM_005263844 AAH10042;AAQ76804;AAY24076;ABM87593;ABW03901;BAF82567;BAF85034;BAG35666;EAW55613;EAW55614;EAW55615;EAW55616;NP_219484;Q96G21;XP_005263901 Hs.91579 BXDC4;MGC19606 IMP4, U3 small nucleolar ribonucleoprotein, homolog;OTTHUMP00000162395;OTTHUMP00000204519;OTTHUMP00000204520;OTTHUMP00000204521;OTTHUMP00000204523;U3 small nucleolar ribonucleoprotein protein IMP4;U3 snoRNP protein 4 homolog;U3 snoRNP protein IMP4;brix domain-containing protein 4 APPROVED protein-coding ENSG00000136718 HGNC:30856 10002 612981 PROVISIONAL 1350569 IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011] 7 7 7 q31 105115742 106014670 - 110303106 111202588 - 110663050 111562532 - 1580863;6480464;8554872 11254443;12477932;12690205;12853948;15231747;15489334;15814844;18029348;19058789;19240061;19401682;19546859;19734545;20379614;20398908;20877624;22948383;24250222;24324551;9847074 83943 A4D0S9;C9JQE1;C9JVB0;Q96T52 ABBA01057861;ABBA01057862;ABBA01057863;ABBA01057864;ABBA01057865;ABBA01057866;AC003989;AC004142;AC005161;AC005166;AC006002;AC006392;AC006993;AC006997;AC073326;AC073980;AC092613;AC106866;AF359563;AK311968;AMYH02016561;AMYH02016562;AMYH02016563;AMYH02016564;AMYH02016565;AMYH02016566;AMYH02016567;AMYH02016568;AMYH02016569;AMYH02016570;AMYH02016571;BC008497;BQ012840;CH236947;CH471070;KF458548;KF458552;NG_030016;NM_001244606;NM_032549;XM_005250629;XM_005250630;XM_005250632;XM_005250633;XM_006716148 AAH08497;AAK52905;AAS02043;AAS07432;AAS07496;AAS07497;AAS07528;BAG34907;EAL24378;EAW83444;EAW83445;EAW83446;EAW83447;NP_001231535;NP_115938;Q96T52;XP_005250686;XP_005250687;XP_005250689;XP_005250690;XP_006716211 Hs.655722;Hs.731706 1337227;1649943;1651167;1664688;1666147;1670003;1675114;1682473;1700912;1706024;1707000;1707596;1713367;1753257;1777030;1778322;1789444;1789446;1789448;1789450;1789452;1789454;1847951;1850362;1853692;1855431;2119505;2127427;2132237;2133057;2146095;2146713;2166391;2171238;2173136;2173138;2178479;2187615;2190481;2190483;5107885;7185188 A001X05;AFM191yc5;AFM287vc9;D7S1516;D7S1559;D7S1763;D7S1881;D7S2056E;D7S2117E;D7S2860;D7S3150;D7S3151;D7S3152;D7S3153;D7S3154;D7S3155;G09356;G17137;G17180;G19737;GDB:1317184;GDB:1317798;GDB:1317800;GDB:1318264;HSC250;HSC251;L29655;RH104083;RH119538;RH12396;RH36064;RH36303;RH47469;RH47777;RH93111;SHGC-110126;SHGC-78648;SHGC-81001;SHGC-84610;STS-AA025228;WI-5281 IMMP2L-IT1;IMP2;IMP2-LIKE IMMP2L intronic transcript 1 (non-protein coding);IMP2 inner mitochondrial membrane protease-like;OTTHUMP00000207148;OTTHUMP00000207168;OTTHUMP00000207189;imp2 inner mitochondrial membrane protease-like (s. cerevisiae);inner mitochondrial membrane peptidase 2 like;mitochondrial inner membrane protease subunit 2 APPROVED protein-coding ENSG00000184903 HGNC:14598 07297 605977 REVIEWED 1352582 IL6 interleukin 6 This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. [provided by RefSeq, Jun 2011] 7 7 7 p21 22752396 22757251 + 22766766 22771621 + 22727147 22732002 + 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3569 B4DNQ5;B4DNV3;B4DVM1;B5MC14;B5MC21;B5MCZ3;C9J5B0;P05231;Q75MH2 A09363;AA721478;ABBA01056696;AC073072;AF372214;AK298013;AK298077;AK301141;AMYH02015349;BC015511;BT019748;BT019749;CH236948;CH471073;CR450296;CS352987;JA104583;M14584;M18403;M29150;M54894;NG_011640;NM_000600;S56892;X04402;X04403;X04430;X04602;XM_005249745;Y00081 AAA52728;AAA52729;AAA59154;AAC41704;AAD13886;AAH15511;AAK48987;AAS07539;AAV38553;AAV38554;ABM82389;ABM85565;BAG60317;BAG60365;BAG62733;CAA00839;CAA27990;CAA27991;CAA28026;CAA28268;CAA68278;CAG29292;CAL23031;CCA63961;EAL24265;EAW93756;EAW93757;EAW93758;NP_000591;P05231;XP_005249802 Hs.654458 1659879;1854660;2107225;2163011 D7S2743;IL6;IL6_3252.2;STS-M14584 BSF-2;BSF2;CDF;HGF;HSF;IFN-beta-2;IFNB2;IL-6 B cell stimulatory factor-2;B-cell differentiation factor;B-cell stimulatory factor 2;CTL differentiation factor;OTTHUMP00000158544;OTTHUMP00000198486;OTTHUMP00000198489;OTTHUMP00000198490;hybridoma growth factor;interferon beta-2;interferon, beta 2;interleukin BSF-2;interleukin-6 1643391;1643402 BMD2_H;BW322_H APPROVED protein-coding ENSG00000136244 HGNC:6018 00970 108010;125853;147620;148000;266600;604302 REVIEWED 2293175 IMPA1P inositol(myo)-1(or 4)-monophosphatase 1 pseudogene 8 8 8 q21.13 78521872 78544180 - 82516796 82539104 - 81604561 81626869 - 650747 ABBA01004052;AC090255;AMYH02018315;NG_007612 1770828;1770830;2148452;2173084 A005A44;AFMB315YG5;G20231;WI-11115 pseudo HGNC:33956 INFERRED 7401111 IMP3P1 IMP3 pseudogene 1 9 9 9 p23 10762500 10763050 - 10829758 10830308 - 10829758 10830308 - 646087 ABBA01065342;AL161788;AMYH02019159;NG_021606 pseudo HGNC:49385 INFERRED 1315660 IMP3 IMP3, U3 small nucleolar ribonucleoprotein This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq, Jul 2008] 15 15 15 q24 52856412 52857650 - 75931426 75941047 - 75639085 75640323 - 6480464;6907045 11076863;11230166;11256614;11543634;11790298;12477932;12655004;14702039;15489334;15489336;15635413;16189514;16344560;16381901;16712791;19060904;21139048;21963094;22505724;23000965;23812426;23923073;24135846;24457229;24457600;24647926;7566098;8012384;8125298;8889548 55272 Q9NV31 AA365493;AB051628;ABBA01060538;AC105020;AK001830;AK057531;AK223121;AL136913;AMYH02030820;AX877630;AY050497;BC006487;BC011745;BC020557;BM970419;CB141947;CH471136;DA375950;NM_018285;Z55621;Z55622 AAH06487;AAH11745;AAL06639;BAA91929;BAB54955;BAD96841;BAG51929;CAB66847;CAE89810;CAL38460;EAW99244;NP_060755;Q9NV31 Hs.513043 1736508;1777526 D15S715E;STS-W73226 BRMS2;C15orf12;DKFZp586L0118;FLJ10968;MRPS4 IMP3, U3 small nucleolar ribonucleoprotein, homolog;OTTHUMP00000183524;U3 small nucleolar ribonucleoprotein protein IMP3;U3 snoRNP protein 3 homolog;U3 snoRNP protein IMP3;chromosome 15 open reading frame 12 APPROVED protein-coding ENSG00000177971 HGNC:14497 12664 612980 REVIEWED 1602426 IMPDH1P1 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 1 9 9 9 p13.3 34064527 34066862 - 34132457 34134793 - 34132459 34134795 - 340499 ABBA01065021;AL354989;AMYH02019439;NG_005146 2108795 IMPDH1__6462.2 bA537H15.4 pseudo HGNC:19912 INFERRED 6480991 IMPDH1P10 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 10 2 2 202002242 202003725 - 201137519 201139002 - 100874399 ABBA01062535;AC007283;AMYH02005548;NG_032196 pseudo HGNC:33965 INFERRED 1347157 IMPA2 inositol(myo)-1(or 4)-monophosphatase 2 This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus may be associated with susceptibility to bipolar disorder. [provided by RefSeq, Jan 2011] 18 18 18 p11.2 11863626 11913083 + 11981427 12030885 + 11981428 12030886 + 1580863;6480269;6480265;6480267;6480266;6480464;6907045 11317223;11673796;14699425;9322233 10822344;10822345;12477932;14624008;15489334;15505643;15557493;16169070;17068342;17251911;17340635;17388992;17434096;19066393;19910543;20153384;20398908;20800640;21139048;21213002;21890473;21900206;23453640;8889548 3613 K7EIH6;K7EII9;K7EL65;K7ELF8;O14732;Q6PIP6 ABBA01074008;ABBA01074009;AF014398;AF025880;AF025882;AF025884;AF025886;AF085628;AF085630;AF085632;AF157102;AF200432;AMYH02034322;AMYH02034323;AP001269;AP001542;BC017176;BC031560;BE219864;BT007061;CF134610;CH471113;CQ964657;EF444990;NG_028104;NM_014214 AAB70915;AAD22135;AAD22136;AAD22137;AAD22138;AAD22139;AAD22140;AAD22141;AAD40683;AAF07824;AAH17176;AAH31560;AAP35710;ACA06007;ACA06008;CAI30710;EAX01558;EAX01559;EAX01560;NP_055029;O14732 Hs.743311 1658056;1854109;2107227;2149574;5017170;5020948;5024761;5037552 A006N05;D18S1066;D8S2279;G35510;IMPA2__6460;L29953;RH36905;RH64924 IMP 2 IMPase 2;OTTHUMP00000162474;inosine monophosphatase 2;inositol monophosphatase 2;inositol monophosphatase 2 variant 1;inositol monophosphatase 2 variant 2;inositol-1(or 4)-monophosphatase 2;myo-inositol monophosphatase A2 APPROVED protein-coding ENSG00000141401 HGNC:6051 09329 605922 REVIEWED 1353295 IMPDH1P11 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 11 16 16 16 p13.2 10373103 10383349 + 10205166 10207447 + 10111309 10113590 + 12477932;7905856 727833 ABBA01006782;AC133565;AMYH02031435;BC127892;L19709;NG_001152;NG_011812 Hs.647352 IMPDH1;IMPDHL1 pseudo HGNC:6054 INFERRED 2289751 IMPDH1P2 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 2 X X X p11.4 44356819 44359171 - 40217710 40220062 - 40358457 40360809 - 402394 ABBA01046822;AC091807;AMYH02039191;KF459059;NG_005150 pseudo HGNC:33957 INFERRED 1605062 IMPACT impact RWD domain protein INVOLVED IN negative regulation of protein phosphorylation (inferred); regulation of translational initiation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cadmium atom; paracetamol 18 18 18 q11.2-q12.1 18821663 18848543 + 22006609 22033499 + 24426645 24453531 + 6480464 11116084;11244491;12477932;15752730;15871461;15937339;20237496;20648630;21139048;21906983;22404850 55364 J3KT25;J3QLU6;J3QQU0;J3QRS6;Q9P2X3 AB026264;ABBA01022610;AC007922;AF208694;AF232229;AK292533;AK312727;AMYH02034434;BC034016;BC036074;BP384088;CH471088;GM959946;HB883439;HC940848;NM_018439 AAG23917;AAG35736;AAH34016;AAH36074;ABM84067;ABW03572;BAA95160;BAF85222;CAV24109;CBF65942;CBU90814;EAX01184;EAX01185;EAX01186;EAX01187;EAX01188;NP_060909;Q9P2X3 Hs.515317 2137611;2153801;5124764 RH81003;STS-AA018822;STS-W37416 MGC33718;RWDD5 Impact homolog;OTTHUMP00000162779;RWD domain containing 5;imprinted and ancient gene protein homolog APPROVED protein-coding ENSG00000154059 HGNC:20387 13739 615319 VALIDATED 2289880 IMPDH1P3 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 3 7 7 7 q33 132864001 132866348 + 138125338 138127685 + 138440593 138442940 + 136307 ABBA01001166;AC008265;AC025593;AMYH02016864;CH236950;NG_005144 2142565 GDB:3754164 pseudo HGNC:33958 INFERRED 1322388 IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 7 7 7 q31.3-q32 122835429 122853135 - 128032331 128050045 - 128392277 128409988 - 1599608;1580863;5144133;5144136;5144221;5144134;6480464;6907045;7240710;8554872;8699517 11875049;11875050;14981049;18295529;18385099 12477932;12690205;1356621;14702039;14766016;15028279;15465556;15489334;1574589;15851576;16038673;16214101;16236267;16272056;16344560;16384941;16936083;17001353;17713475;17851563;18295591;18552984;18974094;1969416;20045992;20061166;20136638;20238028;20301475;20301590;20649757;20679962;20718729;20801516;21139048;21791244;21890473;21906983;21963094;21988832;22183375;22301190;22863883;22939629;23534816;24816145;2902093;7635473;7763314;7814030;7896275;7896827;7903306;8513324;9020170 3614 B3KRZ3;C9J029;C9J381;C9K0R9;F8WDE9;H7C511;H7C5T1;P20839 ABBA01057673;ABBA01057674;ABBA01057675;AC010655;AK054640;AK054667;AK092452;AK122994;AK131294;AK293413;AK297943;AMYH02016715;AMYH02016716;BC033622;BX406207;CD014008;CD014010;CH236947;CH471070;CR933672;DA566139;DA980797;DC299597;DC326380;J05272;NG_009194;NM_000883;NM_001102605;NM_001142573;NM_001142574;NM_001142575;NM_001142576;NM_183243;XM_005250313;XM_005250314;XM_006715967;XM_006715968;XM_006715969;XM_006715970;XM_006715971;XM_006715972;XM_006715973 AAA36114;AAH33622;BAB70780;BAD18464;BAG51409;BAG52555;BAG53840;BAG56920;BAG60259;CAI45968;EAL24310;EAL24311;EAW83649;EAW83650;EAW83651;EAW83652;EAW83653;NP_000874;NP_001096075;NP_001136045;NP_001136046;NP_001136047;NP_001136048;NP_899066;P20839;XP_005250370;XP_005250371;XP_006716030;XP_006716031;XP_006716032;XP_006716033;XP_006716034;XP_006716035;XP_006716036 Hs.654401 1338527;2108795;2114465;2166789;2177005;7183812 D7S480;D7S514;IMPDH1;IMPDH1__6462.2;STS-AA035276;STS-R52542 DKFZp781N0678;IMPD;IMPD 1;IMPD1;IMPDH 1;IMPDH-I;LCA11;RP10;sWSS2608 IMP (inosine monophosphate) dehydrogenase 1;IMP dehydrogenase 1;OTTHUMP00000212379;OTTHUMP00000212380;OTTHUMP00000212381;OTTHUMP00000212382;OTTHUMP00000212385;OTTHUMP00000212386;OTTHUMP00000212390;inosine-5'-monophosphate dehydrogenase 1 APPROVED protein-coding ENSG00000106348 HGNC:6052 08853 146690;180105;613837 REVIEWED 2289774 IMPDH1P4 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 4 X X X p11.3 47278784 47280317 - 43136625 43139011 - 43277376 43279762 - 139334 ABBA01046493;ABBA01046494;AL022158;AL591587;AMYH02039225;NG_005145 pseudo HGNC:33959 INFERRED 2289772 IMPDH1P7 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 7 2 2 2 q32.1 181462073 181464412 - 187865866 187868205 - 187001139 187003478 - 391467 ABBA01062346;AC018735;AMYH02005409;NG_005148 pseudo HGNC:33962 INFERRED 2289873 IMPDH1P5 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 5 10 10 10 q22.3 72825983 72828343 - 79539353 79541713 - 77779595 77781955 - 23251661 340780 ABBA01020229;AL450306;AMYH02023384;NG_005147 1683513 RH99299 pseudo HGNC:33960 INFERRED 737559 IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 This gene encodes an enyzme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Nov 2009] 8 8 8 q21.13-q21.3 78574122 78603090 - 82569151 82599029 - 81656916 81686354 - 1300048;1580863;6480464;6907045 11281967;11911470;11959401;12176979;12477932;1332026;1377913;14699425;15342556;15489334;16189514;16344560;17068342;17207965;18029348;19322201;19447967;19593677;20153384;21139048;21890473;21906983;21963094;21965294;23027737;23535730;24816145;25027693;6253491;8068620;8068621;8718889;9210592;9339367;9462881 3612 E5RG13;E5RG94;E5RGY4;E5RHE9;E5RI82;E5RIF4;E5RIP7;H0YBL1;P29218 ABBA01004051;AC090255;AF042729;AI921211;AK297078;AK300750;AK312823;AMYH02018315;BC008381;BC009565;BP270804;CH471068;DB299262;DC375686;NG_015829;NM_001144878;NM_001144879;NM_005536;X66922;Y11360;Y11361;Y11362;Y11363;Y11364;Y11365;Y11366;Y11367 AAB97468;AAH08381;AAH09565;ADQ31614;BAG35680;BAG59595;BAH13340;CAA47359;CAA72195;EAW87095;EAW87096;EAW87097;EAW87098;EAW87099;EAW87100;NP_001138350;NP_001138351;NP_005527;P29218 Hs.656694 1681048;2114966;2170701 D8S1976;RH91172;SGC35843 IMP;IMP 1;IMPA IMPase 1;OTTHUMP00000227203;OTTHUMP00000227204;OTTHUMP00000227205;OTTHUMP00000227206;OTTHUMP00000227207;OTTHUMP00000227209;OTTHUMP00000227619;inositol (myo)-1(or 4)-monophosphatase 1;inositol monophosphatase 1;inositol-1(or 4)-monophosphatase 1;lithium-sensitive myo-inositol monophosphatase A1 APPROVED protein-coding HGNC:6050 03641 602064 REVIEWED 1603038 IMPAD1 inositol monophosphatase domain containing 1 This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011] 8 8 8 q12.1 53861222 53897192 - 57870488 57906430 - 56957929 56993871 - 6480464;8699517;7240710;8554872 12477932;12754519;14702039;18029348;18695242;19946888;21139048;21549340;21906983;22887726;22939629;24816145 54928 H0YB38;H0YBS3;Q9NX62 ABBA01041774;AC032027;AI095394;AK000428;AK090988;AMYH02018021;AY032885;BC017797;BC067814;BI601447;CH471068;NG_031926;NM_017813 AAH17797;AAH67814;AAK52336;BAA91158;BAC03563;EAW86789;EAW86790;EAW86791;NP_060283;Q9NX62 Hs.438689 2129440;2145708;5015961;5022322 D11S2560;D15S1477;RH11930;RH36216 FLJ20421;GPAPP;IMP 3;IMP-3;IMPA3 Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase;IMPase 3;OTTHUMP00000226649;golgi-resident PAP phosphatase;inositol monophosphatase 3;inositol monophosphatase domain-containing protein 1;inositol-1(or 4)-monophosphatase 3;myo-inositol monophosphatase A3 APPROVED protein-coding ENSG00000104331 HGNC:26019 06531 614010;614078 REVIEWED 1348827 IMPG2 interphotoreceptor matrix proteoglycan 2 The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011] 3 3 3 q12.2-q12.3 99336927 99431029 - 100941390 101039419 - 101222546 101320575 - 6480464;7240710;8554872;8699517 10542133;10702256;11726612;12477932;20301590;20673862;21697133;24876279;8889548 50939 F1T0J3;Q9BZV3 AB593127;ABBA01061779;AC068764;AC093008;AF157624;AF173155;AF271379;AF319972;AL713046;AMYH02007313;AW963481;BC144092;BM671068;BX953286;CH471052;NG_028284;NM_016247 AAF06999;AAF13154;AAG49889;AAI56203;AAI56946;AAK63222;BAJ84067;EAW79803;NP_057331;Q9BZV3 Hs.209249 1723115;1856362;2157364;2183407;5024761 D3S2486;RH123743;RH36905;RH47629;RH68818 IPM 200;IPM200;RP56 OTTHUMP00000214052;SPACRCAN;interphotoreceptor matrix proteoglycan 200;interphotoreceptor matrix proteoglycan IPM 200;interphotoreceptor matrix proteoglycan of 200 kDa;sialoprotein associated with cones and rods proteoglycan APPROVED protein-coding ENSG00000081148 HGNC:18362 06135 607056;613581 REVIEWED 1352807 IMPG1 interphotoreceptor matrix proteoglycan 1 This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 6 6 6 q14.2-q15 77024393 77175569 - 76631062 76782335 - 75921114 76072678 - 1580863;6480464;8554872 10601738;12107410;12477932;14574404;14691150;15489334;16354621;17286855;20201926;20379614;23402259;23993198;8889548;9691169;9719369;9719680;9813076 3617 Q17R60;Q5JSC4 ABBA01040369;ABBA01040370;ABBA01040371;AF017776;AF047492;AL356962;AL392166;AMYH02013939;AMYH02013940;AMYH02013941;AMYH02013942;BC117450;BC117452;BU728582;CA391789;CH471051;CR749572;DQ426878;NM_001282368;NM_001563 AAC03789;AAC68835;AAI17451;AAI17453;ADR83115;CAH18367;EAW48725;EAW48726;EAW48727;NP_001269297;NP_001554;Q17R60 Hs.590893 1699672 RH103441 GP147;IPM150;SPACR IPM-150;OTTHUMP00000016767;interphotoreceptor matrix proteoglycan of 150 kDa;sialoprotein associated with cones and rods protein-coding ENSG00000112706 HGNC:6055 04186 602870 REVIEWED 2289738 IMPDH1P8 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 8 3 3 3 p25.1 15858415 15860760 + 15919457 15921802 + 15877950 15880295 + 131961 ABBA01025135;AC090945;AMYH02006336;NG_005143 2108795 IMPDH1__6462.2 pseudo HGNC:33963 INFERRED 2289759 IMPDH1P6 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 6 8 8 8 q24.13 120600421 120602714 + 124412762 124415055 + 123400522 123402815 + 392267 ABBA01037874;AC021305;AMYH02018705;NG_005149 1764891 SHGC-148449 pseudo HGNC:33961 INFERRED 2289745 IMPDH1P9 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 9 6 6 6 p22.3 19604138 19606840 - 18366247 18368950 - 18366016 18368719 - 441132 ABBA01022236;AL138725;AMYH02013222;NG_005151 pseudo HGNC:33964 INFERRED 1353070 IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2 This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008] 3 3 3 p21.2 49018480 49023597 - 49061758 49066875 - 49024325 49029634 - 1580863;5144133;6480464;6907045 18295529 10097070;10194364;10930578;11181995;12477932;14766016;15383276;15489334;15592455;15621150;15670151;1574589;16196087;16236267;16713569;17342744;17353931;17361185;17496727;17623298;17660802;17713475;18043470;18444945;18583139;18677108;18781797;18976158;19367581;19380743;19597826;19617864;1969416;19738201;19770842;19810816;19946888;20045992;20061166;20135634;20473970;20679962;20718729;20808934;21081666;21139048;21145461;21181270;21319273;21460227;21525035;21890473;21906983;21963094;21987572;21996196;22029192;22053931;22066532;22268729;22505724;22586326;22863883;22928911;22939629;23000965;23166591;23402259;23602568;23667531;24244333;24332808;24477477;24816145;25015289;2902093;7763314;7896827;7903306;7910933;7999076;8098009;8681386;9278455;9858805 3615 E7ETK5;H0Y4R1;P12268 ABBA01024618;AC137630;AK293397;AMYH02006735;AY491522;AY491523;AY545560;BC006124;BC009236;BC012840;BC015567;CH471055;HI179056;J04208;L08114;L33842;L39210;NG_012091;NM_000884;XM_006713128 AAA36112;AAA36113;AAA67054;AAB70699;AAH06124;AAH12840;AAH15567;AAR84630;AAR84631;AAS50155;ABM84329;ABM87720;BAH11500;CBX53836;EAW64946;EAW64947;NP_000875;P12268;XP_006713191 Hs.654400 1744859;1744861;1770201;1854916 A006Z13;GDB:574029;GDB:574031;RH78497 IMPD 2;IMPD2;IMPDH 2;IMPDH-II IMP (inosine monophosphate) dehydrogenase 2;IMP oxireductase 2;OTTHUMP00000210555;OTTHUMP00000210556;inosine 5' phosphate dehydrogenase 2;inosine monophosphate dehydrogenase type II;inosine-5'-monophosphate dehydrogenase 2 APPROVED protein-coding ENSG00000178035 HGNC:6053 00895 146691 REVIEWED 7247411 INAFM2 InaF-motif containing 2 15 15 15 q15.1 17383166 17384899 + 40615733 40618916 + 40323532 40326715 + 12477932;14702039;19531736 100505573 ABBA01038453;AC013356;AI125471;AI125670;AK123770;AL832909;AMYH02030237;BC036424;BC045797;BE250750;NM_001301268;XM_006709985;XM_006720803;XM_006726566 NP_001288197;XP_006710048;XP_006720866;XP_006726629 Hs.530791 LINC00984;OGU1 osteogenesis up-regulated transcript 1 APPROVED protein-coding HGNC:35165 VALIDATED 69037 INA internexin neuronal intermediate filament protein, alpha Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009] 10 10 10 q24.33 98776844 98790035 + 105036919 105050108 + 103277163 103290351 + 1580863;6480464 10862698;12209604;12477932;15121898;15161649;15489334;15673434;16385451;16722980;17620599;17683050;18528283;19110265;19139367;20213320;20562859;21139048;21693764;21990041;2201753;22586326;22683712;22890969;23125841;23398456;23974872;24244333;24483152;7690783;7769995;8889548;9435256 9118 Q16352;Q96J72 AB209785;ABBA01063112;AK293490;AK311620;AL591408;AMYH02023723;BC006359;BM679369;CH471066;NG_012318;NM_032727;S78296 AAB34482;AAH06359;ABM83659;ABM86906;BAD93022;BAG56977;EAW49653;EAW49654;NP_116116;Q16352 Hs.500916 2119329;2131320;2162541;2162834;2184057 D10S1329E;D10S1468;RH66270;SHGC-63470;WI-14107 FLJ18662;FLJ57501;MGC12702;NEF5;NF-66;TXBP-1 66 kDa neurofilament protein;OTTHUMP00000020403;alpha-Inx;alpha-internexin;internexin, alpha;neurofilament 5 (66kD);neurofilament-66, tax-binding protein APPROVED protein-coding ENSG00000148798 HGNC:6057 05628 605338 REVIEWED 1350074 INE1 inactivation escape 1 (non-protein coding) X chromosome inactivation provides dosage compensation for the expression level of X-linked genes from the single X in males and the two in females. This X chromosome gene is intronless and was identified because its transcription escapes X inactivation in females. This gene does not make a protein.[provided by RefSeq, May 2010] X X X p11.4-p11.3 51259537 51260550 + 47064247 47065260 + 47204848 47205861 + 6480464 12477932;16344560;9244435;9618446 8552 O15225 ABBA01052313;AL513366;AMYH02039273;BC069671;BC069696;BC069772;BC112149;BC112175;DA439607;NG_009161;NG_021353;NR_024616;Y10696 CAA71702 Hs.657350 1670216;2108167;2126857;2131073;2220546;5022651 D11S2921;DXS6974E;INE1_8829;RH48434;UniSTS:484337;WI-18308 MGC97326;MGC97335;MGC97386;NCRNA00010 APPROVED ncrna HGNC:6060 02158 300164 VALIDATED 1604452 INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 ENCODES a protein that exhibits cyclin binding; cyclin-dependent protein serine/threonine kinase inhibitor activity; INVOLVED IN negative regulation of cyclin-dependent protein serine/threonine kinase activity; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH clofibrate (ortholog); cobalt dichloride (ortholog); paracetamol (ortholog) 17 17 17 p13.2 4906240 4915716 - 4891425 4901214 - 4988130 4997919 - 6480464 12477932;15159402;15800920;16148011;18029348;18756329;21540187;21750715;23251661;24722188 388324 Q0VD86 ABBA01054787;ABBA01054788;AC004771;AMYH02032838;AY601906;AY601907;AY604176;BC119781;BC122873;NM_001167985;NM_001167986;NM_001167987;NM_213726;XM_005256627;XM_005256628;XM_005256629;XM_006721517;XM_006721518;XM_006721519 AAI19782;AAI22874;AAT09152;AAT09153;AAT36739;NP_001161457;NP_001161458;NP_001161459;NP_998891;Q0VD86;XP_005256684;XP_005256685;XP_005256686;XP_006721580;XP_006721581;XP_006721582 Hs.658926 1736953;2175334 D17S1580;WI-14953 HSD45;MGC148150;MGC148151 protein-coding ENSG00000196388 HGNC:32224 17150 VALIDATED 1343033 INF2 inverted formin, FH2 and WH2 domain containing This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010] 14 14 14 q32.33 85211992 85241995 + 105147902 105185947 + 104689606 104719610 + 6480464;7240710;8554872;8699517 11181995;12477932;12665801;12938929;15203218;15466701;16344560;16818491;18029348;20023659;20360068;20803156;21139048;21258034;21278336;21866090;21890473;21900206;21906983;21987572;21998196;21998204;22113938;22187985;22879592;22939629;22961558;22971997;22986496;23014460;23349293;23383273;23521651;23620398;23847988;23921379;24174593;24816145;8125298 64423 Q27J81 ABBA01002987;ABBA01002988;AF318379;AK025709;AK027105;AK225325;AK290083;AL583722;AL832905;AMYH02029950;AMYH02029951;BC006173;BC008756;BC064828;BG335490;BG820892;BI489810;BQ961756;BU538960;BX248757;CD631414;CH471061;DA500952;DQ395338;DQ395339;DQ395340;DQ499599;NG_027684;NM_001031714;NM_022489;NM_032714;XM_005268004;XM_005268005 AAH06173;AAH08756;AAH64828;AAI72394;AAL55886;ABD59343;ABD59344;ABD59345;ABF54970;BAB15224;BAB15659;BAF82772;CAD66564;CAH10628;EAW81871;EAW81872;EAW81873;EAW81874;EAW81875;NP_001026884;NP_071934;NP_116103;Q27J81;XP_005268061;XP_005268062 Hs.24956 1662588;1684196;1698804 RH102965;RH98436;STS-F09599 C14orf151;C14orf173;DKFZp762A0214;FLJ22056;FSGS5;MGC13251;pp9484 CMTDIE;HBEAG-binding protein 2 binding protein C;HBEBP2-binding protein C;OTTHUMP00000028410;OTTHUMP00000183468;OTTHUMP00000197011;inverted formin 2;inverted formin-2 APPROVED protein-coding ENSG00000203485 HGNC:23791 08648 610982;613237;614455 REVIEWED 1604056 INADL InaD-like (Drosophila) This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 60496772 60918615 + 62208149 62629592 + 61742477 62163920 + 6480464;8554872 10079096;11374908;11509564;11872753;11927608;11964389;12021270;12477932;12527193;12771187;15241471;15489334;16129888;16169070;16637659;16678097;16710414;17235357;17287269;18596123;18824598;19056867;19138174;19255144;19471022;19563532;20379614;20467438;21110914;21139048;21145499;23000965;23251661;23455922;23782696;24255178;24654937;8617505;9280290;9647694 10207 B4DE90;Q8NI35 AB044807;ABBA01074609;ABBA01074610;ABBA01074611;ABBA01074612;ABBA01074613;ABBA01074614;ABBA01074615;ABBA01074616;ABBA01074617;ABBA01074618;ABBA01074619;ABBA01074620;ABBA01074621;ABBA01074622;ABBA01074623;AC097064;AF397170;AJ001306;AJ224747;AJ224748;AK130492;AK293519;AK294187;AK304355;AK307713;AK308428;AK308665;AL136458;AL353802;AL449143;AL590374;AMYH02001129;AMYH02001130;AMYH02001131;AMYH02001132;AMYH02001133;AMYH02001134;AMYH02001135;AMYH02001136;AMYH02001137;AMYH02001138;BC021135;BC142661;BC142723;BC144135;CD356816;CH471059;KF495970;NM_176877;XM_005270341;XM_005270343;XM_005270345;XM_005270347;XM_006710275;XM_006710276;XM_006710277;XM_006710278 AAH21135;AAI42662;AAI42724;AAM28433;BAB19683;BAG57001;BAG57503;BAG65197;CAA04666;CAA12112;CAA12113;EAX06593;EAX06594;EAX06595;EAX06596;NP_795352;Q8NI35;XP_005270398;XP_005270400;XP_005270402;XP_005270404;XP_006710338;XP_006710339;XP_006710340;XP_006710341 Hs.478125 1341403;1342061;1651446;1654577;1674757;1677612;1681789;1700036;1700236;1716813;1717789;1718649;1719309;1751853;1779456;1781690;2120627;2131139;2135717;2137082;2159499;2172941;2179306;5022578;5093364;7186063 A009N06;AL009332;AL009503;AL009719;AL010059;D1S1423;D1S230;D1S246;D1S2554;D1S3389;G32675;RH103630;RH103735;RH121702;RH121804;RH123012;RH123377;RH94138;SHGC-105844;SHGC-153439;SHGC-155078;SHGC-34755;SHGC-74898;SHGC-74915;SHGC-862 Cipp;FLJ26982;InaD-like;PATJ OTTHUMP00000010233;OTTHUMP00000010237;OTTHUMP00000194786;PALS1-associated tight junction protein;PDZ domain protein;channel-interacting PDZ domain protein;hINADL;inactivation no after-potential D-like protein;protein associated to tight junctions APPROVED protein-coding ENSG00000132849 HGNC:28881 04434 603199 REVIEWED 3518440 INAFM1 InaF-motif containing 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH methyl methanesulfonate; quercetin; valproic acid 19 19 19 q13.32 44582022 44582860 + 47777659 47778980 + 47274402 47275723 + 6480464 11181995;12477932 255783 C9JVW0 ABBA01041019;AC008532;AMYH02036256;AMYH02036257;BC022076;BC045749;BC064510;BE896741;BQ708656;CH471126;NM_178511;NR_037675 C9JVW0;EAW57469;NP_848606 Hs.128690 1730203 D19S241E PRR24 OTTHUMP00000242981;proline rich 24;proline-rich protein 24 APPROVED protein-coding HGNC:27406 VALIDATED 1348017 ING2 inhibitor of growth family, member 2 This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 4 4 4 q35.1 181759105 181765135 + 184426220 184433422 + 183505067 183512269 + 1580863;6480464;9479074 23642229 10072587;11481424;11784859;12477932;12859901;15005689;15243141;15356280;15489334;15748897;15761153;16024799;16387653;16465410;16488987;16728974;16755297;16782091;16893883;17207965;17469822;17929852;18029348;18160212;18193082;18334480;18451145;18513492;18951897;18998165;19437536;19730436;19962781;20621832;20676127;20890119;20953165;21124965;21832049;22595675;22689669;23752268;23823870;23864195;24250222;24712846;24816145;24821572;8889548 3622 C9J4X5;Q9H160 AB012853;AB196793;ABBA01070502;AC107214;AF053537;AF062747;AJ006851;AK294310;AK314000;AMYH02010638;BC030128;BM929984;CH471056;NM_001291959;NM_001564;XM_005262982 AAG11395;AAG11396;AAH30128;ADQ32258;BAA36419;BAF30476;BAG36712;BAH11731;CAC20567;EAX04689;EAX04690;NP_001278888;NP_001555;Q9H160;XP_005263039 Hs.107153 1769258;1788766;2108169 ING1L_8420;RH131506;RH36386 ING1L;ING1Lp;p32;p33ING2 OTTHUMP00000197671;inhibitor of growth 1-like protein;inhibitor of growth family, member 1-like;inhibitor of growth protein 2 APPROVED protein-coding ENSG00000168556 HGNC:6063 05021 604215 VALIDATED 1347843 INGX inhibitor of growth family, X-linked, pseudogene INTERACTS WITH copper(2+) sulfate X X X q12 71065251 71066478 - 70711377 70712604 - 71491681 71492449 - 1580863;6480464 10626813;12477932;12859901;15356280;15489334 27160 ABBA01067752;AF149724;AL590763;AMYH02039676;BC101123;BC101124;BC117297;NG_012771;NR_002226 AAF73156 Hs.721806 2220524;2220608;5021872;5037552 D8S2279;UniSTS:484089;UniSTS:485787;sY3084 ING1-like;ING2;MGC119770;MGC119771 pseudo ENSG00000243468 HGNC:6064 02348 300452 VALIDATED 1313235 INCENP inner centromere protein antigens 135/155kDa In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008] 11 11 11 q12.3 59220885 59250081 + 61891445 61920635 + 62123973 62153163 + 1580863;6480464 10369859;10737800;11050385;11084331;11139336;11352945;11453556;11516652;12477932;12584241;12660166;12925766;14610074;14702039;15249581;15316025;15489334;15796717;15917996;16239925;16378098;16565220;16571674;16760428;16764853;17081983;17099693;17322402;17623812;17681274;17956729;18477699;1860899;18752045;18773538;19357306;19494039;19951914;19995937;20360068;20372054;20430883;20562864;20619651;20929775;21346195;21554500;21829377;21875947;21890473;22586326;23000965;23562843;23848594;24163370;8088460;9864353;9914378 3619 E9PM67;Q9NQS7 ABBA01003218;AF282265;AK056195;AK307633;AK310714;AMYH02024887;AP002793;AW839685;AY714053;BC032678;BC098576;BC111732;CH471076;CV569756;NM_001040694;NM_020238;XM_006718533 AAF87584;AAH98576;AAU04398;BAG51645;EAW74003;EAW74004;EAW74005;NP_001035784;NP_064623;Q9NQS7;XP_006718596 Hs.142179 2106513;5021353 INCENP__6466;MARC_3953-3954:996679214:1 FLJ31633;MGC111393 OTTHUMP00000236001;OTTHUMP00000236061;binds and activates aurora-B and -C in vivo and in vitro;chromosomal passenger protein;inner centromere protein;inner centromere protein INCENP APPROVED protein-coding ENSG00000149503 HGNC:6058 05103 604411 VALIDATED 1317373 ING5 inhibitor of growth family, member 5 The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in TP53-dependent regulatory pathway. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 236316253 236341094 + 242641456 242668896 + 241702041 241729481 + 1580863;6480464 12477932;12750254;14702039;15383276;15489334;16169070;16189514;16387653;16728974;17081983;17207965;17954561;18623064;18794358;19187766;20131318;20182888;20379614;20936779;21062663;21177815;21193223;21750715;21900206;22144582;22384930;23000965;23275563;23455924;23576563;24816145;8889548 84289 E9PEN0;Q8WYH8 ABBA01006064;ABBA01006065;AC114730;AC133528;AF189286;AI701412;AK074422;AK128322;AK289958;AK300790;AMYH02006118;AMYH02006119;BC005370;BC039028;BC071899;BI962551;BQ187350;CH471063;NM_032329;XM_005247046;XM_005247047;XR_427115;XR_427116 AAH05370;AAH71899;AAL68979;AAX82019;AAY14921;ADQ32039;BAB85078;BAF82647;BAH13348;EAW71287;EAW71288;EAW71289;NP_115705;Q8WYH8;XP_005247103;XP_005247104 Hs.529172 1687640;1764979;2181819;5014051;5020946;5022200;5024413 D8S2278;L17877;L17971;L18426;RH76740;SHGC-148535;SHGC-64331 FLJ23842;p28ING5 OTTHUMP00000200119;OTTHUMP00000200120;inhibitor of growth protein 5 APPROVED protein-coding ENSG00000168395 HGNC:19421 16348 608525 REVIEWED 1319738 ING4 inhibitor of growth family, member 4 This gene encodes a tumor suppressor protein that contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. Multiple alternatively spliced transcript variants have been observed that encode distinct proteins. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 8376682 8389327 - 6759704 6772311 - 6650538 6663142 - 6480464 10931946;12477932;12750254;15029197;15251430;15342556;15489334;15528276;15882981;15897452;15935570;16096374;16387653;16728974;16916647;16920330;16973615;17157298;17325660;17363573;17517644;17848618;17954561;18381289;18394746;18399550;18775696;18779315;18789575;19034511;19250543;19430401;19571607;19775294;20053357;20211142;20381459;20445261;20501848;20705953;20707719;20716169;20953165;21056991;21177815;21310648;21315418;21454715;21626442;21890473;21971889;21988832;22078444;22144582;22228137;22334692;22436625;22767438;23055189;23056468;23181555;23455924;23504291;23603392;23604125;23624912;23967213;23969950;24057236;24130172;24157826;24762396;8889548 51147 A4KYM5;E9PJ14;E9PNE3;H0YEH7;Q9UNL4;R4GNG1 AB197695;AB197696;AB197697;ABBA01017650;AC125494;AC135892;AF063594;AF110645;AF156552;AK293169;AK303354;AK313621;AMYH02025953;AW515338;AW614868;BC007781;BC013038;BC095434;BG705367;BG718170;BM727982;BM922497;BP303219;BQ066994;CH471116;EF152349;EF152350;EF152351;EF152352;NM_001127582;NM_001127583;NM_001127584;NM_001127585;NM_001127586;NM_016162;XM_005253698;XR_242982;XR_242983 AAD48585;AAG43153;AAH07781;AAH13038;AAH95434;AAL79773;ABO61139;ABO61140;ABO61141;ABO61142;ADZ15665;BAF30477;BAF30478;BAF30479;BAG56713;BAG64415;EAW88762;EAW88763;EAW88764;EAW88765;EAW88766;EAW88767;EAW88768;EAW88769;EAW88770;EAW88771;EAW88772;EAW88773;NP_001121054;NP_001121055;NP_001121056;NP_001121057;NP_001121058;NP_057246;Q9UNL4;XP_005253755 Hs.524210 1696026;2109435;2156226;2168775;2168777;2180210;2181037 A001T24;D12S2141;G19629;ING4_9672;RH11183;SHGC-83169;WI-19753 MGC12557;my036;p29ING4 OTTHUMP00000180574;OTTHUMP00000180575;OTTHUMP00000180576;OTTHUMP00000233422;OTTHUMP00000233423;OTTHUMP00000246202;brain my036 protein;candidate tumor suppressor p33 ING1 homolog;inhibitor of growth protein 4 APPROVED protein-coding ENSG00000111653 HGNC:19423 09774 608524 REVIEWED 1347419 INE2 inactivation escape 2 (non-protein coding) X X X p22.2 19921322 19923196 - 15803839 15805712 - 15785716 15787589 - 9244435 8551 ABBA01071351;AC096510;AMYH02038920;NG_012746;NG_012766;NR_002725;Y10697 Hs.653287 1681895;2114626;5015619;5022200 Cda1bf09;D11S3114;G24103;L18426 NCRNA00011 ncrna HGNC:6061 300165 VALIDATED 736727 INHA inhibin, alpha This gene encodes the alpha subunit of inhibins A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion.[provided by RefSeq, Dec 2010] 2 2 2 q35 214206917 214210389 + 220436954 220440435 + 219572232 219575713 + 1580863;2290369;2290383;2290367;2290380;1579943;2301687;2301690;2290381;2290368;2290379;2290384;2290390;6480464;8694089 10435065;10602485;11431143;11545298;11720904;11818495;15583806;15745937;17143484;17414107;18413775;8090730;9506758 10320815;10746731;10865214;11098038;11134153;11344232;12093833;12324653;12385827;12456605;12456957;12477932;12493718;12576745;12587530;12651901;12660265;12679471;12682233;12697670;12721183;12857425;1310063;1423490;1448148;14596968;14667886;14967395;15205401;15214825;15227735;15236099;15374731;15451570;15489334;15551748;15562017;15578072;15816368;15950648;16048795;16161415;16195413;16390856;16396934;16423381;16621788;16650414;16670820;16723387;16758344;16778388;16989826;17074342;17272393;17457606;17603052;17847007;17933751;18047273;18091323;18249384;18397882;18423626;18460206;18630123;18826955;18852530;19003635;19064572;19079962;19107499;19195690;19324345;19363042;19391217;19412349;19436293;19542176;19574343;19589860;19615428;19752047;20188029;20209104;2036994;20634197;20704626;20716560;20734064;21115906;21174065;21252475;21263247;21388678;21529351;21535305;21707703;21708117;21785376;21809377;21992678;22055401;22127493;22267736;22296042;22417854;22430733;22581369;22585605;23724521;23756051;23836275;24012099;2575216;2767687;2770810;3016724;3035540;3267209;3345731;3754442;3758355;7890768;8267637;8885240;9032295;9166111 3623 P05111 A14420;ABBA01023840;AC009955;AMYH02005823;AW025787;BC006391;BC039076;BT006954;CH471063;M13144;M13981;NG_016977;NM_002191;X04445 AAA59166;AAA59167;AAH06391;AAP35600;ABM84699;ABM92219;CAA01158;CAA28040;EAW70774;NP_002182;P05111 Hs.407506 1685576;1729031;1741497;1788012;1811766;1815202;1818984;1832146;1835632;1838238;1965078;1965080;1965082;1965084;1965086;1965088;1965090;1965092;1965094;1965096;1965098;1965100;1965102;1965104;1965106;1965108;1965110;1965112;1965114;1965116;1965118;1965120;1965122;2106515;2214088;2214090 ECD06887;ECD08636;ECD10557;ECD17211;ECD18972;ECD20291;G67371;GDB:181252;INHA_4110;REN53413;REN53414;REN53415;REN53416;REN53417;REN53418;REN53419;REN53420;REN53421;REN53422;REN53423;REN53424;REN53425;REN53426;REN53427;REN53428;REN53429;REN53430;REN53431;REN53432;REN53433;REN53434;REN53435;RH76187;UniSTS:143587;stSG633102;stSG633104 A-inhibin subunit;OTTHUMP00000065425;inhibin alpha;inhibin alpha chain APPROVED protein-coding ENSG00000123999 HGNC:6065 00933 147380 REVIEWED 6768848 INHBA-AS1 INHBA antisense RNA 1 7 7 7 p14.1 41724303 41809763 + 41733514 41818976 + 41693916 41779378 + 12477932;14702039;23470693;23793025 285954 ABBA01058169;AC005027;AK096266;AMYH02015592;BC037931;BC047446;CH236951;HG500209;HG500211;NR_027118;NR_027119 Hs.656869 1336825;1710970;1744185;2143800;2148711;2153724;2163342;5015861;5020948;7185938;7186693 AFMa283xf5;D10S16;D7S2548;G29133;G35510;GDB:435302;L18187;SHGC-36652;SHGC-84854 AC005027.4 APPROVED ncrna ENSG00000224116 HGNC:40303 PREDICTED 733811 INHBC inhibin, beta C This gene encodes the beta C chain of inhibin, a member of the TGF-beta superfamily. This subunit forms heterodimers with beta A and beta B subunits. Inhibins and activins, also members of the TGF-beta superfamily, are hormones with opposing actions and are involved in hypothalamic, pituitary, and gonadal hormone secretion, as well as growth and differentiation of various cell types. [provided by RefSeq, Jul 2008] 12 12 12 q13.1 57482525 57498596 + 57828543 57844609 + 57434685 57452062 + 1580863;6480464;6907045 11134153;11237224;12477932;12651901;12960042;15342556;1646080;16627954;18413775;19064572;19095948;20012305;20458061;20683603;20734064;20884846;20952735;21063444;21092084;21117833;21529351;23180294;23263486;23284751;23580013;7826378;8838799;9428386 3626 P55103 ABBA01026702;AC022506;AC126614;AK314849;AMYH02026583;AMYH02026584;BC020693;BC130324;BC130326;BP237373;BX105206;CH471054;NM_005538 AAI30325;AAI30327;BAG37366;EAW97011;NP_005529;P55103 Hs.632722 1771458;2106517;5024543 D1S3690;INHBC_4111;WI-19145 IHBC OTTHUMP00000242576;activin beta-C chain;activin/inhibin beta c;inhibin beta C chain APPROVED protein-coding HGNC:6068 03136 601233 REVIEWED 735395 INHBB inhibin, beta B The inhibin beta B subunit joins the alpha subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumour-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. Because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-specific fashion, it is proposed that inhibin may be both a growth/differentiation factor and a hormone. Furthermore, the beta B subunit forms a homodimer, activin B, and also joins with the beta A subunit to form a heterodimer, activin AB, both of which stimulate FSH secretion. [provided by RefSeq, Jul 2008] 2 2 2 cen-q13 114430578 114436242 + 121103719 121109383 + 120346143 120351807 + 1580863;6480464;6907045;8554872 10320815;11134153;11266516;11344232;12032389;12414903;12419948;12456957;12477932;12493718;12543931;12571168;12651901;12697670;12790766;12857425;15070953;15196700;15205401;15319819;15374731;15489334;15551748;15562017;15757857;15851553;15910540;16024538;16048795;16195413;16423381;1646080;16650414;16650820;16670820;16728349;16758344;16935389;16989826;17272393;17376219;17525068;17628551;17666595;17681301;17761145;17914098;17991484;18381568;18413775;18423626;18555227;18593767;18826955;18927237;19061996;19064572;19198021;19539911;19574343;19589860;20149358;20200332;20630504;20634197;20634891;20713036;20734064;21168856;21285453;21475087;21529351;21552555;21843890;21938679;21988832;22432041;22611157;22747683;23263486;23326517;23349064;23423746;2364091;23664458;23692058;23836275;24188875;24378873;2575216;2739657;2767687;3122219;3345731;3754442;9202237 3625 P09529 AA416873;ABBA01045911;AC012363;AI659282;AMYH02004662;AMYH02004663;BC030029;BC127815;BF938974;CH471103;CK430845;M13437;M31668;M31669;M31682;NM_002193 AAA59169;AAA59170;AAA59451;AAH30029;AAI27816;AAY14801;ABM81634;EAW95243;NP_002184;P09529 Hs.1735 1688229;1741499;1773292;1796120;2185746 G15907;GDB:181253;INHBB_752;RH11434;RH92169 MGC157939 Inhibin, beta-2;OTTHUMP00000162134;activin AB beta polypeptide;activin beta-B chain;inhibin beta B chain;inhibin beta-b APPROVED protein-coding ENSG00000163083 HGNC:6067 00934 147390 REVIEWED 1314890 ING1 inhibitor of growth family, member 1 This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 13 13 13 q34 92211252 92219600 + 111364970 111373421 + 110712623 110721074 + 1600155;6480464;7240710;8554872;8699517 10866301 10554029;10626813;10679922;10754201;10779953;10807544;11118440;11481424;11682605;11784859;11991811;12008079;12015309;12147653;12208736;12243754;12477932;12632089;12637159;12963728;14522900;14581367;14630091;14665632;14676120;15201991;15375504;15451426;15526165;15534913;15601862;15662138;15677627;15800978;16273637;16288740;16325212;16465410;16581770;16607280;16728974;17379210;17585055;17805569;17929852;17949449;18193082;18388957;18450387;18533182;18655775;18691180;18801192;18836436;19085961;19132896;19322201;19680556;20066899;20621832;21078114;21176536;21286670;21432775;21528065;21731648;21779982;21896275;22237655;22260079;23388825;23459830;23462723;23472054;23585863;23752268;24008732;24242916;24816145;8944021;9102209;9121449;9186514;9330636;9440695 3621 Q9UK53 AA450055;AB024401;AB024402;AB024403;AB024404;AB024405;AB031269;AB037387;AB037594;ABBA01026991;AF001954;AF044076;AF078835;AF078837;AF149721;AF149722;AF149723;AF167551;AF181849;AF181850;AI016573;AJ310392;AK302353;AL157820;AMYH02028713;BC018348;BC093942;BC093944;BF435293;BF510437;BG703874;BQ430264;CH471085;DB450867;DB537640;HI179024;HI179026;HI179028;HI179030;KF455830;NG_012197;NM_001267728;NM_005537;NM_198217;NM_198218;NM_198219 AAB60879;AAC00501;AAF07920;AAF07921;AAF37421;AAF37422;AAF37423;AAG02578;AAG02579;AAG12174;AAG12175;AAH93942;AAH93944;BAA82886;BAA82887;BAA82888;BAA82889;BAA82890;BAA83462;BAA83496;BAB08101;BAB08102;BAB08103;BAB20992;BAG63679;CAC38067;CBX53821;CBX53822;CBX53823;CBX53824;EAX09127;EAX09128;EAX09129;EAX09130;EAX09131;NP_001254657;NP_005528;NP_937860;NP_937861;NP_937862;Q9UK53 Hs.46700;Hs.508725 1657889;1690254;1698978;1856277 RH103058;RH75282;SHGC-37358;STS-N33574 p24ING1c;p33;p33ING1;p33ING1b;p47;p47ING1a OTTHUMP00000018703;OTTHUMP00000018704;OTTHUMP00000018705;OTTHUMP00000018706;growth inhibitor ING1;growth inhibitory protein ING1;inhibitor of growth protein 1;tumor suppressor ING1 APPROVED protein-coding ENSG00000153487 HGNC:6062 03337 275355;601566 REVIEWED 732688 INHBA inhibin, beta A The inhibin beta A subunit joins the alpha subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumor-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. Because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-specific fashion, it is proposed that inhibin may be both a growth/differentiation factor and a hormone. Furthermore, the beta A subunit forms a homodimer, activin A, and also joins with a beta B subunit to form a heterodimer, activin AB, both of which stimulate FSH secretion. Finally, it has been shown that the beta A subunit mRNA is identical to the erythroid differentiation factor subunit mRNA and that only one gene for this mRNA exists in the human genome. [provided by RefSeq, Jul 2008] 7 7 7 p15-p13 41719390 41733490 - 41728601 41742706 - 41689003 41703108 - 1580863;2313385;2313391;2301688;6480464;6907045 14663836;16423381;7852520 10320815;10746731;10859029;10865214;10932194;11134153;11266516;11344232;11459787;11948405;11969340;12088879;12149426;12161551;12213882;12324653;12399529;12414903;12456957;12477932;12524226;12587530;12651901;12660162;12665510;12690205;12697670;12702211;12721183;12853948;12877256;1310063;14613548;14671202;14671321;14738881;14993131;15031321;15070957;15094188;15123352;15123686;15188178;15205401;15292256;15374731;15451571;15451575;15489334;15580313;15737465;15950648;16081641;16198295;16344560;1646080;16643884;16751776;16820918;16988001;17204604;17384470;17436000;17462637;17478557;17681301;1777673;17909904;17929017;17954979;17968943;18001154;18077449;18089557;18156495;18166170;18299275;18319260;18353928;18359784;18381582;18413775;18423626;18450971;18460206;18535106;18600473;18608101;18695873;18719101;18768470;18854336;19027859;19028479;19064572;19086053;19091310;19095948;19128983;19141859;19158274;19196915;19200970;19240652;19257827;19308293;19324968;19383344;19386982;19539911;19574343;19615428;19641514;19661148;19733294;19736306;19885849;20028875;20036850;20043075;20194748;20200332;20203128;20226172;20309641;20379614;20610541;20628624;20634197;20634891;20660033;20704626;20720391;20734064;20926007;21102462;21132402;21222045;21464440;21475087;21529351;21576276;21640344;21767104;21846490;21952245;21992678;22161160;22219177;22234949;22296042;22416010;22425195;22439617;22548442;22549017;22579070;22685232;22845186;23024260;23205865;23383108;23470693;23589129;23781072;23793025;23808611;23812417;23831638;23898208;24085226;24134550;24139759;24204752;24227781;24302632;24336657;24378873;24395917;24778035;2575216;2767687;3267209;3345731;3754442;3758355;7887917;7890768;8015550;8125298;8242742;8267637;8397373;8955111;9032295;9166111;9202237;9872992;9884026 3624 A4D1W7;P08476 A14422;ABBA01058169;AC005027;AF218018;AK222742;AK290584;AMYH02015592;AU137531;BC007858;BX648811;CH236951;CH471073;CS274788;D49743;J03634;M13436;NM_002192;X04447;X57578;X57579;X72498 AAA35787;AAA59168;AAG17260;AAH07858;AAQ96861;ABM84084;ABM87451;BAA08577;BAD96462;BAF83273;CAA01159;CAA28041;CAA40805;CAA40806;CAA51163;CAI46003;CAJ84003;EAL24001;EAW94139;EAW94140;EAW94141;NP_002183;P08476 Hs.583348 1336825;1710970;1742919;1744185;1790249;1796118;2142073;2142075;2143800;5125717;7186693 AFMa283xf5;D7S2548;G15849;GDB:215624;GDB:435302;INHBA;INHBA-STS;INHBA_750;SHGC-12763;SHGC-84854 EDF;FRP FSH-releasing protein;Inhibin, beta-1;OTTHUMP00000159074;OTTHUMP00000207260;activin beta-A chain;erythroid differentiation factor;erythroid differentiation protein;follicle-stimulating hormone-releasing protein;inhibin beta A chain;inhibin beta-a;inhibin, beta A (activin A, activin AB alpha polypeptide) APPROVED protein-coding HGNC:6066 00929 147290 REVIEWED 1321527 ING3 inhibitor of growth family, member 3 The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008] 7 7 7 q31 115400338 115425232 + 120590817 120615711 + 120950763 120975657 + 6480464;9495926;8554872 21502417 12080476;12477932;12545155;12853948;12963728;14702039;14966270;15196461;15489334;15604093;15647280;16387653;16728974;17634537;18081876;19154204;19322201;19401682;19935701;20946988;21832049;22467210;22550337;23940030;8889548;9847074 54556 E7ET07;Q9NXR8 ABBA01057764;AC004537;AF074968;AF161419;AF180298;AK000096;AK291905;AK293682;AL603623;AMYH02016661;AY007790;BC009776;BC009777;BC010851;BC062634;BC073865;BC093091;BC093689;BC101609;BC143316;BU677936;BU684039;CA442734;CH236947;CH471070;NG_023322;NM_019071;NM_198267 AAF28979;AAG12172;AAG23285;AAH09776;AAH09777;AAH10851;AAH62634;AAH73865;AAH93091;AAH93689;AAI01610;AAI43317;AAI46418;AAI53172;AAQ13674;AAQ93373;AAQ93374;BAA90942;BAF84594;BAG57123;CAC48260;EAW83546;EAW83547;EAW83548;EAW83549;NP_061944;NP_938008;Q9NXR8 Hs.489811 2150902;2150904;2165949;5017558;5491969 A005W09;G20547;ING3;ING3-1;RH18523 Eaf4;FLJ20089;ING2;MEAF4;p47ING3 OTTHUMP00000180572;OTTHUMP00000180573;OTTHUMP00000211234;OTTHUMP00000211235;OTTHUMP00000211236;inhibitor of growth protein 3 APPROVED protein-coding ENSG00000071243 HGNC:14587 06321 607493 REVIEWED 737308 INHBE inhibin, beta E INHBE is a member of the activin beta family (see INHBA; MIM 147290) that plays a role in pancreatic exocrine cell growth and proliferation (Hashimoto et al., 2006 [PubMed 16426570]).[supplied by OMIM, May 2008] 12 12 12 q13.3 57503083 57505778 + 57849096 57851791 + 57455313 57458008 + 737633;1580863;6480464;6907045 12477932 12242034;14702039;15489334;15717329;16303743;16426570;18413775;19322201;20012305;20033758;20734064;21092084;23263486;23580013 83729 F8VNP4;P58166 ABBA01026701;ABBA01026702;AC022506;AF412024;AK075285;AMYH02026584;BC005161;BF305618;CH471054;CQ783417;NG_029564;NM_031479 AAH05161;AAN03682;ACE86431;ACE87106;ADZ15898;BAC11521;CAF86622;EAW97012;NP_113667;P58166 Hs.632713 2122070 RH48794 MGC4638 OTTHUMP00000242578;activin beta E;activin beta-E chain;inhibin beta E chain APPROVED protein-coding ENSG00000139269 HGNC:24029 11047 612031 VALIDATED 1347975 INO80B INO80 complex subunit B This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011] 2 2 2 p13.1 74513388 74516276 + 74682150 74685087 + 74455023 74457960 + 1580863;6480464;9495926 21502417 12477932;15146197;15489334;15556297;16169070;16230350;17000644;17721549;18029348;18922472;19095771;21303910;22082156;9847074 83444 B8ZZ93;B8ZZH7;C9JKY0;F8WCL7;H7C171;J3KQ70;Q9C086 AB054538;ABBA01075601;AC005041;AI978697;AK295889;AK295901;AMYH02004091;BC039617;BC050666;BC064425;CH471053;CN260703;DB451812;NM_031288 AAH50666;AAH64425;BAB21111;BAG58684;BAG58693;EAW99668;NP_112578;Q9C086 Hs.410786 HMGA1L4;HMGIYL4;IES2;PAP-1BP;PAPA-1;ZNHIT4;hIes2 IES2 homolog;OTTHUMP00000160419;OTTHUMP00000202629;OTTHUMP00000202630;OTTHUMP00000202631;OTTHUMP00000202632;OTTHUMP00000202634;PAP (Pim-1 associated protein) associated protein 1;PAP-1 binding protein;PAP-1-associated protein 1;high mobility group AT-hook 1-like 4;zinc finger HIT domain-containing protein 4;zinc finger, HIT type 4 APPROVED protein-coding ENSG00000115274 HGNC:13324 17110 REVIEWED 5133075 INMT-FAM188B INMT-FAM188B readthrough (NMD candidate) This locus represents rare but naturally occurring read-through transcription between the INMT (indolethylamine N-methyltransferase) and FAM188B (family with sequence similarity 188, member B) genes on chromosome 7. The read-through transcript is unlikely to produce a protein because it is a nonsense-mediated mRNA decay (NMD) candidate based on translation from the supported INMT start codon. [provided by RefSeq, Nov 2010] 7 7 p 30791751 30932002 + 30752135 30892387 + 6480464;8554872 12853948;20967262;9847074 100526825 F8WBC2;H3BSR8 ABBA01056814;AC004691;AC006022;AK308762;AMYH02015460;KF511014;NR_037598 Hs.660192 FLJ98803 APPROVED ncrna ENSG00000254959 HGNC:41995 VALIDATED 1317489 INIP INTS3 and NABP interacting protein SOSSC is a subunit of single-stranded DNA (ssDNA)-binding complexes involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010] 9 9 9 q32 85947827 85979428 - 115448786 115480387 - 112685503 112718107 - 737633;6480464 12477932 11042152;15164053;15489334;18029348;18449195;19605351;19683501;19786574;21832049;21890473;22939629;23824909 58493 Q5VWJ6;Q9NRY2;X6R8P6 ABBA01042697;AF161409;AF161411;AK000637;AK310007;AL390067;AMYH02021489;AMYH02021490;BC013097;BC014881;BC065210;CH471105;NM_021218;XM_006717208 AAF28969;AAF28971;AAH13097;AAH14881;AAH65210;ABM83331;ABM86542;EAW59113;NP_067041;Q9NRY2;XP_006717271 Hs.658575 1678699;1701570;1716431;1728243;1739369;2149725;5015861;5022578;5022651;5037552;5117897;7185938 D10S16;D11S2921;D1S1423;D8S2279;D9S1651E;G63547;GDB:631813;RH104418;RH121396;RH91235;SHGC-37345 C9orf80;HSPC043;MISE;RP11-276E15.2;SOSS-C;SOSSC;SSBIP1;hSSBIP1 INTS3- and NABP-interacting protein;OTTHUMP00000021940;OTTHUMP00000021941;SOSS complex subunit C;SSB-interacting protein 1;hSSB-interacting protein 1;minute INTS3/hSSB-associated element;sensor of single-strand DNA complex subunit C;sensor of ssDNA subunit C;single-stranded DNA-binding protein-interacting protein 1 APPROVED protein-coding HGNC:24994 12980 613273 PROVISIONAL 1607029 INO80 INO80 complex subunit This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 15 15 15 q15.1 18038958 18176235 - 41271078 41408340 - 40978880 41116246 - 6480464;9495926;8554872 21502417 10574462;10952318;12045097;12477932;14702039;15207721;16230350;16298340;17101442;17721549;18026119;18376411;18388905;18922472;20197409;20237820;20302916;20306291;20379614;20687897;20855601;21303910;21947284;22133677;22166198;22242598;22749148;22939629;24297934;24703950 54617 H0YKH3;H0YMN5;H0YNL3;Q9NUK2;Q9ULG1 AB033085;ABBA01038425;ABBA01038426;ABBA01038427;AC020661;AC021753;AK002176;AK024777;AK026050;AK057582;AK290371;AL137280;AMYH02030257;AMYH02030258;AMYH02030259;AMYH02030260;AMYH02030261;AMYH02030262;BC012578;BC046115;BC057299;BC068054;BC105993;BC144681;BC146785;BX350023;CB155560;CH471125;NG_017163;NM_017553;NR_104038 AAI46786;BAA86573;BAA92122;BAB14997;BAF83060;CAB70675;EAW92468;EAW92469;EAW92470;EAW92471;NP_060023;Q9ULG1 Hs.292949 1675848;1770853;1778279;1847866 RH77825;RH93731;STS-H80862;WI-18087 INO80A;INOC1;hINO80 DNA helicase INO80;INO80 complex subunit A;INO80 homolog;OTTHUMP00000160712;homolog of yeast INO80;putative DNA helicase INO80 complex homolog 1 APPROVED protein-coding ENSG00000128908 HGNC:26956 10024 610169 REVIEWED 1320959 INO80C INO80 complex subunit C INVOLVED IN chromatin remodeling (inferred); DNA recombination (inferred); DNA repair (inferred); PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN Ino80 complex; MLL1 complex; nucleolus; INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; valproic acid 18 18 18 q12.2 29856143 29885819 - 33032194 33078110 - 35452230 35498144 - 737633;6480464;9495926 12477932;21502417 14702039;15489334;15960975;16169070;16230350;16341674;16368877;17370265;17721549;18029348;18922472;19322201;21139048;21303910;22505724;22939629;24250222 125476 K7EIY8;K7EKI6;K7ELX9;K7ENM4;K7EQ79;M0R3E2;Q6PI98 ABBA01022446;ABBA01022447;AC007998;AK095502;AK300660;AMYH02034552;BC039404;BC048989;BF475320;BM758571;BQ887287;BY800049;CH471088;EC520842;NM_001098817;NM_194281;XM_005258195;XM_005258196;XM_005258197 AAH39404;BAC04560;BAG62346;EAX01357;EAX01358;NP_001092287;NP_919257;Q6PI98;XP_005258252;XP_005258253;XP_005258254 Hs.464903 5020946;5022578;5024413;5491451 D1S1423;L17877;L17971;MARC_13470-13471:1002300368:2 C18orf37;FLJ38183;IES6;hIes6 IES6 homolog;OTTHUMP00000163382 protein-coding ENSG00000153391 HGNC:26994 10719 VALIDATED 1605827 INO80E INO80 complex subunit E INVOLVED IN DNA recombination (inferred); DNA repair (inferred); DNA replication (inferred); PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Ino80 complex; nucleolus; nucleus; INTERACTS WITH copper(2+) sulfate; coumestrol; hydralazine 16 16 16 p11.2 72778609 72788190 - 30007485 30017112 + 29996164 30005791 + 6480464;9495926;8554872 21502417 12477932;14702039;15489334;16230350;17207965;17643375;17721549;18029348;18922472;19505873;19615732;21303910;21988832;22082156;24250222 283899 H3BNM4;I3L0W8;I3L270;I3NI13;J3KNE2;Q8NBZ0 ABBA01013110;AC093512;AC243947;AK074033;AK074137;AK075133;AK130409;AK309498;AY189289;BC035693;BC047712;CH471238;CQ783841;NM_173618;XM_005255264;XM_006721041;XR_429677 AAH47712;AAO86733;ADQ33092;BAB84859;BAB84963;BAC11424;CAF86887;EAW79953;EAW79954;EAW79955;EAW79956;EAW79957;EAW79958;EAW79959;NP_775889;Q8NBZ0;XP_005255321;XP_006721104 Hs.434864 1679379;1685724;1689941 RH25926;RH80757;RH99266 CCDC95;FLJ00079;FLJ90652 OTTHUMP00000162994;coiled-coil domain containing 95;coiled-coil domain-containing protein 95 protein-coding HGNC:26905 08816 PROVISIONAL 1353464 INPP3 inositol polyphosphate-3-phosphatase 3629 HGNC:6072 1606537 INO80D INO80 complex subunit D INVOLVED IN DNA recombination (inferred); DNA repair (inferred); regulation of transcription, DNA-templated (inferred); PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; formaldehyde; methyl methanesulfonate 2 2 2 q33.3 200615842 200708300 - 206858445 206950906 - 205993721 206086182 - 6480464;9495926 21502417 12477932;14702039;16230350;16344560;17721549;19553259;21303910;8125298 54891 C9JLV2;C9JLZ4;Q53TQ3 ABBA01062642;ABBA01062643;ABBA01062644;ABBA01062645;ABBA01062646;ABBA01062647;AC007383;AC007679;AC092677;AK000316;AK096585;AK225339;AMYH02005623;AMYH02005624;AMYH02005625;BC004193;BC011687;BC017290;BC136278;CH471063;CR746991;CR933609;DB233201;NM_017759 AAH04193;AAH11687;AAH17290;AAI36279;AAX93069;BAA91079;BAG53330;EAW70374;EAW70375;NP_060229;Q53TQ3 Hs.445036 1339161;1717893;1726715;2117537;2145168;7190115;7190121 A007I21;D2S155;G62745;RH122778;RH70024 FLJ20309 OTTHUMP00000206349;OTTHUMP00000206351 protein-coding ENSG00000114933 HGNC:25997 07894 VALIDATED 7383666 INO80B-WBP1 INO80B-WBP1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring INO80B (INO80 complex subunit B) and WBP1 (WW domain-binding protein 1) genes on chromosome 2. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 2 2 74682150 74688018 + 74455023 74460891 + 6480464 14702039;20967262;9847074 100532735 ABBA01075601;AC005041;AMYH02004091;NR_037849 Hs.410786 ncrna HGNC:49199 VALIDATED 734292 INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008] 4 4 4 q31.21 140279978 141098274 - 142949181 143767604 - 142028028 142846451 - 633135;1580863;6480464;6907045;8554872 9295334 10097090;12477932;15342556;15489334;17846126;19322201;19647222;20379614;21070662;21127264;21139048;21487159;22377302;22895072;23000965;24051093;24070612;24288008;24529757;24591580;7608176;9599410 8821 D6R9J5;D6RDJ7;D6RE59;D6RJC3;E7EQN9;E9PCZ3;E9PG59;E9PHC0;H0Y9Q3;H0YA10;O15327;Q9BS68 ABBA01069992;ABBA01069993;ABBA01069994;ABBA01069995;ABBA01069996;ABBA01069997;ABBA01069998;ABBA01069999;AC093860;AC093885;AC108060;AC108077;AC138657;AC139720;AK298118;AK300891;AK302936;AMYH02010222;AMYH02010223;AMYH02010224;AMYH02010225;AMYH02010226;AMYH02010227;AY753912;BC005273;BC005274;BC017924;BC072447;BC110918;BC133005;BC144255;BP360389;BX649090;CH471056;NM_001101669;NM_003866;U96922;XM_005263322;XM_005263323;XM_005263324;XM_005263325;XM_006714400;XM_006714401;XM_006714402;XM_006714403;XM_006714404 AAB72153;AAH05273;AAH17924;AAH72447;AAI10919;AAI33006;AAV28485;BAH12726;BAH13368;BAH13850;EAX05081;NP_001095139;NP_003857;O15327;XP_005263379;XP_005263380;XP_005263381;XP_005263382;XP_006714463;XP_006714464;XP_006714465;XP_006714466;XP_006714467 Hs.531403 1331573;1337547;1339090;1339317;1650122;1700070;1705450;1717609;1726515;1726675;1750671;1764525;1784924;1846966;1848760;1850266;1858059;2115567;2121109;2124302;2125550;2132073;2133637;2136887;2140308;2145747;2166712;2172494;2187086;7183426 AFM143YB4;D4S1515;D4S1561;D4S1625;D4S2326;D4S2330;D4S2927;D4S3053;D4S826;D4S982;G16840;G62573;G62638;RH103648;RH122109;SHGC-111986;SHGC-148121;SHGC-14891;SHGC-24624;SHGC-32125;SHGC-50479;SHGC-50555;SHGC-50571;SHGC-51755;SHGC-67852;SHGC-83809;SHGC4-1862;STS-N33390;WI-11228 MGC132014 4-phosphatase II;OTTHUMP00000220065;OTTHUMP00000220066;OTTHUMP00000220068;OTTHUMP00000220069;OTTHUMP00000220070;OTTHUMP00000220071;inositol polyphosphate 4-phosphatase II;inositol polyphosphate 4-phosphatase type II;inositol polyphosphate-4-phosphatase, type ii, 105kd;type II inositol 3,4-bisphosphate 4-phosphatase;type II inositol-3,4-bisphosphate 4-phosphatase APPROVED protein-coding ENSG00000109452 HGNC:6075 06322 607494 REVIEWED 1350841 INPP5C inositol polyphosphate-5-phosphatase, 120kDa 3634 HGNC:6078 68560 INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008] 2 2 2 q11.2 93265040 93411219 + 99061321 99207496 + 98444858 98591598 + 68266;633135;1580863;6480464;6907045;8554872 7608176;9295334 10097090;10702694;11485317;12477932;14702039;15231748;15489334;15716355;15815621;18187694;18562305;19264973;20463662;21890473;23092984;23463506;24250222;9110986;9599410 3631 B8ZZB2;D3DVH3;Q96PE3 AB462500;ABBA01073966;AC010134;AF368319;AK057550;AK307823;AMYH02004384;AMYH02004385;BC005082;BC028361;CH471127;NG_029890;NM_001134224;NM_001134225;NM_001566;NM_004027;U26398;U96919;XM_006712499;XM_006712500;XM_006712501;XM_006712502;XM_006712503;XM_006712504;XM_006712505;XM_006712506;XM_006712507;XM_006712508;XM_006712509 AAB01068;AAB72150;AAH28361;AAK58870;AAX93230;ABM86241;EAX01904;EAX01905;EAX01906;EAX01907;EAX01908;EAX01909;EAX01910;NP_001127696;NP_001127697;NP_001557;NP_004018;Q96PE3;XP_006712562;XP_006712563;XP_006712564;XP_006712565;XP_006712566;XP_006712567;XP_006712568;XP_006712569;XP_006712570;XP_006712571;XP_006712572 Hs.469386 1338287;1677078;1698528;1714561;1715689;2166765;2180152;2181210 D2S1315;D2S2002;D2S2187;DYS418;RH102815;RH119291;RH119794;RH98872 INPP4;TVAS1 OTTHUMP00000203138;OTTHUMP00000203139;OTTHUMP00000203141;OTTHUMP00000225217;inositol polyphosphate 4-phosphatase type I;inositol polyphosphate-4-phosphatase, type 1;inositol polyphosphate-4-phosphatase, type I, 107kD;type I inositol 3,4-bisphosphate 4-phosphatase;type I inositol-3,4-bisphosphate 4-phosphatase APPROVED protein-coding ENSG00000040933 HGNC:6074 02949 600916 REVIEWED 1314631 INPP5A inositol polyphosphate-5-phosphatase, 40kDa The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128920687 129181282 - 134351283 134596984 + 132537849 132783480 + 1580863;6480464;6907045;8554872 11210186;12477932;14996095;15164054;15489334;20876729;21139048;21822266;21890473;24250222;8006039;8013665;8808294;8889548;8999861;9398266 3632 B1AP38;H0Y2W5;Q14642;Q5T1B3;Q5T1B4;Q5T1B5;Q8N6C1 ABBA01006188;ABBA01006189;ABBA01006190;ABBA01006191;ABBA01006192;ABBA01006193;AF184215;AF273055;AL356603;AL392043;AL451069;AMYH02024076;AMYH02024077;AMYH02024078;AMYH02024079;AMYH02024080;BC052265;BC062300;BC096280;BC096281;BC117515;BM467443;BM666428;CB960907;CH471211;NM_005539;X77567;Z31695 AAH52265;AAH62300;AAH96280;AAH96281;AAI17516;AAK13252;AAM44458;CAA54676;CAA83500;EAW61306;EAW61307;NP_005530;Q14642 Hs.523360;Hs.715308 1342195;1664617;1683048;1701276;1757869;1758341;1795200;2115883;2139731;7186898 84;D10S1376E;D10S212;D10S2346;RH104267;RH91871;SHGC-146745;SHGC-148086;WI-19193 5PTASE;DKFZp434A1721;MGC116947;MGC116949 43 kDa inositol polyphosphate 5-phophatase;CTCL tumor antigen HD-CL-02;InsP3 5-phosphatase;OTTHUMP00000020775;OTTHUMP00000020776;OTTHUMP00000020777;inositol polyphosphate-5-phosphatase, 40kD;inositol trisphosphate-5-phosphatase, 40kD;type I inositol 1,4,5-trisphosphate 5-phosphatase;type I inositol-1,4,5-trisphosphate 5-phophatase;type I inositol-1,4,5-trisphosphate 5-phosphatase APPROVED protein-coding ENSG00000068383 HGNC:6076 02521 600106 REVIEWED 1348251 INPP5D inositol polyphosphate-5-phosphatase, 145kDa This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014] 2 2 2 q37.1 227689229 227838082 + 233925036 233995881 + 233060326 233207903 + 1580863;2302068;6480464;6484113;6907045 17371235 10194451;10229804;10350061;10382761;10660611;10704825;10733577;10748054;10822173;10875931;10900203;11071635;11157475;11247302;11287610;11402314;11443118;11692111;11714803;11724799;12024011;12029088;12217402;12393695;12421919;12477932;12829595;12882960;14688341;14702039;14993273;15090612;15166241;15184070;15470047;15492005;15604218;15644415;15735664;15944314;15953601;16038794;16406061;16428799;16619039;16682172;16818760;17342744;17371259;17657219;19041431;19380743;19473701;19641183;19682241;19839650;19880507;19890474;19913121;19954644;20041145;20304029;20331378;20379614;20628086;20697350;20972266;21155837;21275903;21378990;21402888;21622861;21695085;21864674;21906983;22249254;22267732;22412388;22575191;22706086;22815893;22820502;23128233;23154388;23998585;24095650;24152035;24162737;24206842;24302498;24391219;24522920;8643691;8654924;8723348;8769125;8874179;9058707;9108392;9110989;9148918;9341117;9422771;9531585;9918857 3635 C9JF09;C9JLW2;H0Y5Q9;H7C403;Q92835;R4GMN8 ABBA01001944;ABBA01001945;ABBA01001946;ABBA01001947;ABBA01001995;ABBA01001996;AC013726;AC108511;AC114729;AC141929;AC233715;AEKP01044255;AK298651;AK309644;AMYH02005999;AMYH02006001;AMYH02006002;AMYH02006003;AW503130;BC027960;BC062985;BC099920;BC113580;BC113582;BE247227;BM800110;CH471063;KF456772;NG_033988;NM_001017915;NM_005541;U50040;U50041;U53470;U57650;U84400;X98429 AAB49680;AAB53573;AAC50453;AAC50454;AAD00081;AAH62985;AAH99920;AAI13581;AAI13583;BAG60823;CAA67071;EAW71029;EAW71030;EAW71031;NP_001017915;NP_005532;Q92835 Hs.262886;Hs.601911 1338318;1653855;1755461;1765365;1765367;1771616;1796122;2133106;2139346;2151276;2175908;5015881;5022651 AFMa053wc5;D11S2921;D2S1279;G29434;GDB:335751;INPP5D_160;RH68049;RH68337;RH70363;SHGC-142327;SHGC-148855;SHGC-148856;SHGC-61987 MGC104855;MGC142140;MGC142142;SHIP;SHIP-1;SHIP1;SIP-145;hp51CN;p150Ship OTTHUMP00000165069;OTTHUMP00000165070;OTTHUMP00000165071;OTTHUMP00000165072;OTTHUMP00000203442;SH2 containing inositol phosphatase, isoform b;SH2 domain-containing inositol 5'-phosphatase 1;SH2 domain-containing inositol phosphatase 1;SH2 domain-containing inositol-5'-phosphatase 1;inositol polyphosphate-5-phosphatase of 145 kDa;inositol polyphosphate-5-phosphatase, 145kD;phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1;phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1;signaling inositol polyphosphate 5 phosphatase SIP-145;signaling inositol polyphosphate phosphatase SHIP II APPROVED protein-coding ENSG00000168918 HGNC:6079 09033 601582 REVIEWED 1342739 INPP5B inositol polyphosphate-5-phosphatase, 75kDa This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2014] 1 1 1 p34 36604192 36690446 - 38326369 38412729 - 37860697 37947057 - 1580863;6480464;6907045 12477932;14702039;15489334;15761153;16344560;16710414;1718960;17956944;18029348;19536138;19700499;20808825;20872266;21832049;21890473;21906983;22072788;23805271;24390342;24704254;24742366;24816145;2542294;7721860;8125013;8529643;8530037 3633 B1ARF3;E7ESY0;P32019 ABBA01023256;ABBA01023257;ABBA01023258;ABBA01023259;ABBA01023260;ABBA01023261;ABBA01023262;AJ251881;AK022846;AK093261;AK295062;AK310824;AL603790;AL833055;AL929472;AMYH02000804;AMYH02000805;AMYH02000806;BC042529;BC058932;BC062317;BX296560;CH471059;DA125087;DC398675;M74161;NM_001297434;NM_005540;XM_005270833;XM_005270835;XM_005270836;XM_005270837;XM_006710619;XM_006710620;XM_006710621 AAA79207;AAH42529;AAH58932;BAG51126;BAG58111;CAH56301;EAX07307;EAX07308;EAX07309;EAX07310;EAX07311;NP_001284363;NP_005531;P32019;XP_005270890;XP_005270892;XP_005270893;XP_005270894;XP_006710682;XP_006710683;XP_006710684 Hs.449942 2119052;2151705;2174847;5015961;5016478;5022463;5022578;5037552;5037554;5109281 D15S1477;D1S1423;D1S1425;D3S1673;D8S2279;D8S2282;G27427;GDB:434012;RH120883;STS-AA022685 5PTase;MGC65156;MGC71303 75 kDa inositol polyphosphate-5-phosphatase;OTTHUMP00000004726;OTTHUMP00000004727;OTTHUMP00000004728;inositol polyphosphate-5-phosphatase, 75kD;phosphoinositide 5-phosphatase;type II inositol 1,4,5-trisphosphate 5-phosphatase;type II inositol-1,4,5-trisphosphate 5-phosphatase APPROVED protein-coding ENSG00000204084 HGNC:6077 00924 147264 REVIEWED 1314476 INPP1 inositol polyphosphate-1-phosphatase This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008] 2 2 2 q32 184803198 184831393 + 191208196 191236391 + 190343470 190371665 + 1580863;6480464;6907045 10780272;11812139;11901356;12477932;14574455;14671192;14702039;15489334;16169070;16344560;16787706;17570738;19058789;19086053;21139048;21900206;2225061;22939629;22990118;23453640;24722188;8390685;9599410;9682271 3628 B8ZZF6;C9J128;C9J173;C9J2N5;C9J2Z6;E7ENF2;E7ET59;E7EUX4;P49441;Q6IBG4 AB451298;ABBA01062383;ABBA01062384;AC092178;AF141325;AI680695;AK093560;AMYH02005435;AW015766;BC015496;BC106006;BQ100772;CH471058;CR456840;CR541707;DA272809;KJ535042;L08488;NM_001128928;NM_002194;XM_005246532;XM_006712498 AAA36117;AAD46766;AAH15496;AAI06007;AAY24179;AHW56681;BAG52740;BAG70112;CAG33121;CAG46508;EAX10869;EAX10870;EAX10871;EAX10872;NP_001122400;NP_002185;P49441;XP_005246589;XP_006712561 Hs.32309 1660163;1784050;1784052;2136202;2155912;2217494 G16421;INPP1_3186;RH17607;SHGC-145512;SHGC-145513;WI-9155 IPP;MGC110984 IPPase;OTTHUMP00000163511;OTTHUMP00000205563;OTTHUMP00000205568;OTTHUMP00000205570;OTTHUMP00000205573;inositol polyphosphate 1-phosphatase APPROVED protein-coding ENSG00000151689 HGNC:6071 00923 147263 REVIEWED 1604357 INPP5K inositol polyphosphate-5-phosphatase K This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 17 17 17 p13.3 1413368 1435621 - 1397869 1420182 - 1494575 1516888 - 6480464;6907045;8554872 10753883;11509665;12477932;12536145;12556481;12621583;16002321;16189514;17353931;18573875;18774950;21639856;21890473;21900206;21903422;21988832;22751929;22815484;24250222;24816145;8968499;8968500 51763 B7Z4V9;C9JQW8;C9JZB0;I3L0Y0;I3L1R1;I3L2L1;I3L4A5;I3NI31;J3KN07;K7EMS8;K7ENF7;K7EPG6;Q9BT40 AB036829;AB036830;AB036831;ABBA01054666;AC100748;AK297955;AK303907;AK307293;AK312585;AK312844;AMYH02032743;BC004362;BG722885;BM510617;CH471108;NG_029891;NM_001135642;NM_016532;NM_130766;U45973;XM_005256683;XM_005256685;XM_005256686;XM_006721545 AAB03214;AAH04362;ABM83741;ABM87060;BAA92340;BAA92341;BAA92342;BAG35479;BAG35697;BAH12695;BAH14079;EAW90614;EAW90615;EAW90616;EAW90617;EAW90618;NP_001129114;NP_057616;NP_570122;Q9BT40;XP_005256740;XP_005256742;XP_005256743;XP_006721608 Hs.632238 1647386;1650449;1771230;1847061;1849981;2109847;2131470;2148550;2156628 A004M12;A004Q21;D17S1376E;RH11672;SGC30584;SHGC-32158;SHGC-34337;SKIP_9759;WI-14374 PPS;SKIP OTTHUMP00000198132;OTTHUMP00000198133;OTTHUMP00000198134;inositol polyphosphate 5-phosphatase K;skeletal muscle and kidney enriched inositol phosphatase;skeletal muscle and kidney-enriched inositol phosphatase APPROVED protein-coding ENSG00000132376 HGNC:33882 08489 607875 REVIEWED 1316407 INMT indolethylamine N-methyltransferase N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream FAM188B (family with sequence similarity 188, member B) gene. [provided by RefSeq, Nov 2010] 7 7 7 p14.3 30780990 30786456 + 30791689 30806152 + 30752135 30757602 + 1580863;6480464;6907045 10552930;11322482;12477932;12853948;15489334;16095048;16344560;18394749;192352;19913121;20628086;22396660 11185 O95050 AACC02000087;AB041362;ABBA01056814;AC006022;AF128846;AF128847;AF128848;AK309519;AK313832;AMYH02015460;BC033813;BC103712;BC106902;BC106903;DA920005;NM_001199219;NM_006774 AAD04723;AAF18304;AAF18305;AAF18306;AAH33813;AAI03713;AAI06903;AAI06904;BAA94451;EAL24447;NP_001186148;NP_006765;O95050 Hs.632629 1649401;5014051;5022200;5037552 D8S2278;D8S2279;L18426;RH12838 MGC125940;MGC125941;TEMT OTTHUMP00000123389;OTTHUMP00000202348;amine N-methyltransferase;aromatic alkylamine N-methyltransferase;arylamine N-methyltransferase;indolamine N-methyltransferase;nicotine N-methyltransferase;thioester S-methyltransferase-like;thioether S-methyltransferase APPROVED protein-coding ENSG00000241644 HGNC:6069 06890 604854 REVIEWED 1349321 INPP5J inositol polyphosphate-5-phosphatase J ENCODES a protein that exhibits inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (inferred); inositol-1,4,5-trisphosphate 5-phosphatase activity (inferred); inositol-polyphosphate 5-phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); inositol phosphate metabolic process (inferred); negative regulation of microtubule polymerization (inferred); PARTICIPATES IN inositol phosphate metabolic pathway; phosphatidylinositol 3-kinase signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; ruffle; INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; 17alpha-ethynylestradiol (ortholog) 22 22 22 q12.2 15319037 15330758 + 31518893 31530683 + 31109979 31134697 + 1580863;6480464;6907045;8554872 10023782;10591208;10593988;12477932;12536145;14702039;15489334;23443536;9847074 27124 B4DF95;B5MBZ3;B5MCL8;C9J0H5;C9K0M5;Q15735 ABBA01055320;ABBA01055321;AC005005;AK092859;AK095944;AK126610;AK293992;AK308921;AK309548;AMYH02038230;AMYH02038231;AMYH02038232;AW014134;BC041652;BC109288;BU507439;BU584792;CH471095;NM_001002837;NM_001284285;NM_001284286;NM_001284287;NM_001284288;NM_001284289;U45975;XM_006724230 AAB03216;AAD15618;AAI09289;BAC04657;BAC86611;BAG52616;BAG57356;EAW59936;EAW59937;EAW59938;EAW59939;EAW59940;NP_001002837;NP_001271214;NP_001271215;NP_001271216;NP_001271217;NP_001271218;Q15735;XP_006724293 Hs.517549 1686184;2157509;2158212;5093060 A009F03;G32496;RH70642;STS-R40003 INPP5;MGC129984;PIB5PA;PIPP OTTHUMP00000199391;OTTHUMP00000199392;OTTHUMP00000199393;OTTHUMP00000199394;inositol polyphosphate 5-phosphatase J;phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A;phosphatidylinositol 4,5-bisphosphate 5-phosphatase A protein-coding ENSG00000185133 HGNC:8956 07573 606481 VALIDATED 1343997 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly.[provided by RefSeq, Feb 2011] 9 9 9 q34.3 109837914 109848723 - 139323067 139334305 - 136428615 136439853 - 1580863;6480464;6907045;7240710;8554872;8699517 10577920;10764818;10806194;12477932;15324660;15465916;18094158;19668215;19668216;20301500;20301743;21068128;21270152;21289126;21297633;21890473;22082156;23128233;23150559;23386033;24166846 56623 Q2YD81;Q9NRR6 ABBA01022708;AF187891;AL592301;AL832846;AMYH02021900;AMYH02021901;BC028032;BC110356;BE044535;BE314630;CH471090;NG_016126;NM_019892;U45974;XM_005266094;XM_006717187 AAB03215;AAF81404;AAH28032;AAI10357;EAW88233;EAW88234;EAW88235;NP_063945;Q9NRR6;XP_005266151;XP_006717250 Hs.120998 1651081;1662943;1686873;1701430;1852875;2114769;2123601;7185325 D9S158;RH104347;RH48856;RH70641;RH77981;RH98963;STS-F10030;WI-11990 CORS1;CPD4;JBTS1;MGC117201;MORMS;PPI5PIV 72 kDa inositol polyphosphate 5-phosphatase;OTTHUMP00000022575;phosphatidylinositol (4,5) bisphosphate 5-phosphatase;phosphatidylinositol 4,5-bisphosphate 5-phosphatase;phosphatidylinositol polyphosphate 5-phosphatase type IV;phosphatidylinositol-4,5-bisphosphate 5-phosphatase APPROVED protein-coding ENSG00000148384 HGNC:21474 17151 213300;610156;613037 REVIEWED 1354308 INSAF insulin activator factor (insulin control element-binding transcription factor) 1580863 7935390 3637 Q16219 S73205 AAB31986;Q16219 protein-coding HGNC:6082 1314013 INPP5F inositol polyphosphate-5-phosphatase F The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] 10 10 10 q26.11 115216680 115319730 + 121485559 121588663 + 119726047 119829151 + 6480464;8554872 10231032;11274189;12477932;12805586;14702039;15146197;16385451;18281508;19460752;19875726;24255178 22876 Q5T993;Q9Y2H2 AB023183;ABBA01062885;ABBA01062886;AC027672;AF109361;AF113227;AI492073;AI783668;AK091448;AK123633;AK307758;AL133461;AL137528;AL158014;AMYH02023911;AMYH02023912;AMYH02023913;BC052367;BC067820;BC082755;BC111493;BF476150;CD642547;CH471066;CN362016;DB636424;DN992317;H15412;NM_001243194;NM_001243195;NM_014937;XM_006717719;XM_006717720 AAG39298;AAH52367;AAH67820;AAH82755;AAI11494;AAQ13509;BAA76810;BAG52363;CAB70792;EAW49379;EAW49380;EAW49381;NP_001230123;NP_001230124;NP_055752;Q9Y2H2;XP_006717782;XP_006717783 Hs.369755 1338809;1655927;1703176;1736128;1773995;1773997;1848867;2118511;2172839;2177921;5022812;5125423 90;A005Z28;D10S1392E;D10S1740;G20627;G29639;MARC_51762-51763:1152648011:2;RH15702;RH44659;SGC32380;WI-17476;WI-22037 FLJ13081;KIAA0966;MGC131851;MGC59773;MSTP007;MSTPO47;SAC2;hSAC2 OTTHUMP00000020608;Sac domain-containing inositol phosphatase 2;inositol polyphosphate 5-phosphatase F;phosphatidylinositide phosphatase SAC2;sac domain-containing phosphoinositide 5-phosphatase 2 APPROVED protein-coding ENSG00000198825 HGNC:17054 11048 609389 REVIEWED 1347615 INSIG1 insulin induced gene 1 Oxysterols regulate cholesterol homeostasis through the liver X receptor (LXR)- and sterol regulatory element-binding protein (SREBP)-mediated signaling pathways. This gene is an insulin-induced gene. It encodes an endoplasmic reticulum (ER) membrane protein that plays a critical role in regulating cholesterol concentrations in cells. This protein binds to the sterol-sensing domains of SREBP cleavage-activating protein (SCAP) and HMG CoA reductase, and is essential for the sterol-mediated trafficking of the two proteins. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jun 2009] 7 7 7 q36 149506354 149518817 + 155089486 155101945 + 155297776 155310235 + 1580863;2308857;2308858;2317203;6480464 15096598;16327801;19933148 12115587;12202038;12242332;12242342;12477932;12482938;12535518;12690205;12842885;12869692;12963821;14660594;14702039;15085196;15247248;15304479;15489334;15782218;15899885;16168377;16344560;16399501;16549805;16606821;17043353;17106696;18187584;18195716;18660489;18835813;18989534;19322201;19458199;19617589;19638338;19740467;19815544;19913121;19965593;20068067;20444954;20458442;20628086;20877301;21081644;21343306;21906983;21963094;22143767;22505724;22648509;22690709;23223569;23333304;23564452;23720822;24217618;24371122;24484994;9268630 3638 A4D2M9;C9JSG8;F5H6P3;H7C5L3;O15503 AA565248;ABBA01015989;ABBA01015990;AC144438;AC144652;AC231970;AF086365;AK095977;AK291675;AL541939;AMYH02017133;AY112745;BC001880;BI550548;BI918342;BM995866;BQ059075;BT007227;CH236962;CH471149;DA590854;DA738378;DN996424;NM_005542;NM_198336;NM_198337;U96876;XM_005249542;XM_005249543 AAB69121;AAH01880;AAM44086;AAP35891;BAF84364;EAL23728;EAL23729;EAL23730;EAX04529;EAX04530;EAX04531;EAX04532;NP_005533;NP_938150;NP_938151;O15503;XP_005249599;XP_005249600 Hs.520819 1651780;1653428;1735718;1735720;2147923 D7S2171E;D7S2172E;RH47239;WI-11991;WI-13602 CL-6;CL6;MGC1405 INSIG-1 membrane protein;OTTHUMP00000216469;OTTHUMP00000216470;OTTHUMP00000216471;insulin-induced gene 1 protein APPROVED protein-coding ENSG00000186480 HGNC:6083 03633 602055 REVIEWED 731056 INS insulin After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 11 11 11 p15.5 2217516 2218946 - 2181009 2182439 - 2159779 2161209 - 1625118;1625120;1625121;1625124;1580863;2313694;2311115;2298713;2311111;2311114;2311137;2311109;2311131;2311112;2317259;2317245;2317247;2317253;2317262;2317273;2317268;2317266;2317248;2317250;2317260;4142788;6480464;6902909;6902896;6902897;6902908;6484113;6907045;7240710;8554872;8699517 11101842;12917331;1569197;16799061;17347799;17448147;17855560;18451997;18713300;18824271;19033255;19152242;19269197;19375425;19516902;19537357;19571666;19572116;19628082;20034470;20555424;22046295;22068113;2565624;3322910;8175958;9095092;9667398;9809695 10084601;10383393;10497219;10604997;10644978;10909971;10938588;10966857;10969839;11140838;11145591;11278339;11347740;11376336;11387233;11398136;11443198;11500939;11502799;11511079;11606170;11738155;11739440;11742412;11779231;11779865;11800057;1184755;11866509;11912547;11937112;11953210;11978629;12021212;12029093;12032154;12047362;12051853;12072386;12079889;12086926;12101177;12111440;12133430;12135947;12138094;12182905;12186542;12189018;12364457;12378388;12392301;12404181;12441313;12477932;12479880;12529491;12589110;12610512;12620428;12624089;12631734;12637980;12639765;12654724;12660731;12709672;12715715;12721156;12750767;12803245;12821730;12881524;12930990;12946932;12952878;13658959;1406615;1433291;14426955;14551916;14607844;14615391;14616883;14633852;14647005;14651526;14657411;14659752;14671163;14671189;14671204;14679083;14693412;14707040;14715866;14739855;14744991;14749349;14979729;14986111;15028719;15046555;15047631;15070567;15095040;15111508;15126243;15161800;15163889;15170498;15185208;15194403;15220197;15220214;15230641;15237706;15240646;15265780;15277396;15305767;15342556;15351621;15367890;15473891;15489334;15529622;15538935;15561961;15581831;15583859;15589123;15591776;15610006;15613433;15616007;15632182;15678496;15684637;15699505;15705595;15705917;15792832;15834700;15880482;15889096;15919610;15920061;15922332;15928253;15929679;15936461;15949705;15956217;15956745;15983206;16006430;1601997;16025255;16025839;16081366;16123374;16246845;16251897;16276008;16307231;16344718;16344925;16362283;16380501;16390390;16418171;1646635;16497805;16519889;16531418;16552513;16595598;16604263;16608900;16614815;16629714;16691379;16731532;16731859;16736556;16741735;16751187;16799400;16800793;16835468;16866381;16868061;16885156;16949073;16951936;16996478;17011062;17011566;17051221;17052889;17053071;17065334;17068290;17103462;17105729;17116217;17127405;17130532;17157312;17192475;17192483;17242212;17279313;17284223;17291451;17299081;17310371;17311896;17327422;17327454;17337306;17341563;17342078;17344504;17348446;17416760;17433504;17437081;17461431;17464100;17468256;17471492;17473382;17479246;17487982;17497031;17506723;17513702;17520407;17553505;17554260;17586504;17616349;17620332;17632545;17652220;17667841;17675047;17698984;17700581;17726611;17805200;17828388;17846745;17890489;17898179;17901401;17914103;17920639;17923791;17925406;17937736;17957153;17972051;17993259;18029081;18029348;18039179;18039812;18040865;18057381;18070774;18072146;18077505;18083784;18085551;18090240;18093308;18157793;18162506;18171712;18192540;18198306;18198311;18211635;18216377;18220656;18279373;18283245;18283256;18283260;18284601;18292987;18294642;18305020;18307789;18310307;18375961;18388898;18404969;18417529;18441389;18483566;1851182;18520331;18582564;18620562;18660489;18662362;18692115;18716398;18719673;18834984;18839133;18840770;18853485;18940880;18951876;18981553;18983503;18996102;19000139;19000992;19020323;19025443;19037607;19051206;19052261;19064572;19073905;19073967;19094425;19115062;19141582;19146426;19188433;19188609;19190820;19214176;19247282;19249902;19321435;19321436;19321446;19324891;19336408;19338578;19367319;19430480;19434426;19445897;19463742;19466592;19491387;19556358;19578600;19578796;195962;1959628;19602055;19680231;19683528;19688775;19709092;19727662;19742322;19767753;19769745;19778377;19785038;19833889;19845278;19885595;19898946;19913026;19913121;19935854;19948072;19950226;20007936;20033399;20054344;20098959;20106974;20119675;20133622;20133841;20138117;20142200;20190549;20203524;20208155;20226046;20232313;20301620;20332111;20345871;20357092;20357430;20361993;2036420;20378605;20391195;20455999;20468064;20535137;20564319;20566319;20587420;20607677;20628086;20628762;20647273;20655470;20679359;20724178;20734064;20738396;20739464;20805278;20808760;20849903;20863361;20938745;21036154;21054880;21059249;21073664;21094141;21193298;21193618;21203453;21203503;21251282;21281583;21302286;21308844;21336277;21352425;21361910;21412422;21427225;21437235;21442164;21448434;21454690;21454697;21462967;21473587;21507316;21544516;21559376;21566073;21574953;21592955;21646299;21660954;21707690;21711374;21724851;21813805;21816162;21823539;21829393;21832049;21867683;21871813;21887289;21900206;21906630;21911493;2196279;22003494;22005517;22033917;22065208;22065581;22068552;22082268;22095122;22132167;22132232;22167125;22167126;22193626;22229322;22235272;22242132;22253890;22290178;22297303;22307032;22315413;22319034;22357962;22359667;22378730;22379117;22383948;22393448;22403629;22461323;22465905;22468791;22547909;22567146;22577092;22684034;2271664;22718751;22739332;22748134;22751690;22763970;22883454;22918957;22940118;22949029;22950808;22957706;22967498;22967500;22972030;22982989;23018458;23043361;23050777;23092880;23133528;23223446;23227203;23275337;23289766;23302862;23321478;23347689;23348915;23357976;23405181;23410103;23428413;23443243;23447530;23460020;23463541;23484124;23510797;23531221;23584706;23600561;23624892;23648896;23697264;23718986;23721563;23729554;23780880;23796517;23820621;23886629;23911422;23933688;23936387;23980258;24002365;24022479;24030901;24036112;24075908;24081736;24132974;24142430;24146977;24167603;24184209;24283070;24338965;24468049;24479346;24492466;24506168;24507870;24683100;24778449;24811232;24828025;24854384;2550426;3470784;3511099;3518947;3537011;3553851;381941;4019786;4443293;4698553;4698555;4803504;503234;5101771;5560404;6243748;6248962;6253909;6312455;6351842;6382002;6424111;6927840;7027261;7350438;7477119;7556975;7688386;7716547;7773291;7818556;8358440;8421693;8452530;8496180;8524413;8702995;8971927;9092559;9141561;9235985;9388210;9498508;9631292;9773776;9830016 3630 A6XGL2;C9JNR5;I3WAC9;P01308 ABBA01032100;AC132217;AJ009655;AMYH02024187;AY138590;AY899304;BC005255;BM510347;BM510748;BP322143;BT006808;CH471158;J00265;JF909299;JQ951950;L15440;M10039;NG_007114;NM_000207;NM_001185097;NM_001185098;NM_001291897;V00565;X70508 AAA59172;AAA59173;AAA59179;AAH05255;AAN39451;AAP35454;AAW83741;ABM83966;ABM87282;AEG19452;AFK93533;CAA08766;CAA23828;CAA49913;EAX02488;EAX02489;NP_000198;NP_001172026;NP_001172027;NP_001278826;P01308 Hs.272259 1681803;1694904;1741235;1741327;1741547;1742581;1743425;1801872;1804956;1806132;2091632;2190719;5491330;5492137;5492155;5492164 ECD01817;ECD03418;ECD04020;G44339;GDB:179433;GDB:180498;GDB:181496;GDB:197907;GDB:316225;Ins1;Ins2;PMC123023P3;PMC21231P1;PMC24644P6;REN117096;RH75852 IDDM1;IDDM2;ILPR;IRDN;MODY10 OTTHUMP00000011161;OTTHUMP00000011162;OTTHUMP00000196036;OTTHUMP00000196038;OTTHUMP00000217519;insulin-dependent diabetes mellitus 2;preproinsulin;proinsulin APPROVED protein-coding ENSG00000254647 HGNC:6081 01455 125852;176730;606176;613370 REVIEWED 735428 INSIG2 insulin induced gene 2 The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008] 2 2 2 q14.2 112173296 112194866 + 118846033 118867604 + 118088474 118110028 + 2308857;2317203;6480464 15096598;19933148 12242332;12477932;12482938;12624180;12842885;14702039;16549805;16606821;16614226;17137505;17428920;17465681;17471297;17489846;18003761;18070740;18162505;18195716;18223638;18239574;18270535;18319320;18347269;18398047;18426866;18464289;18514965;18570692;18615239;18660489;18682847;18839134;18989534;19105843;19197259;19197262;19224890;19263810;19360016;19399648;19523229;19617589;19638338;19740467;19772594;19815544;19851442;19913121;19948975;20007308;20028541;20045156;20083228;20092643;20145255;20373477;20504252;20538960;20628086;20645959;20653998;20712903;20816152;20816195;20858904;20877301;20920244;20955599;21163096;21443541;21544599;21978759;22020349;22143767;22355322;22504420;22695173;22968099;24097068;24250222;24371122 51141 B4DQ23;F8WCG8;Q9Y5U4 ABBA01045944;AC009303;AF125392;AF527632;AK021692;AK291433;AK298599;AL080184;AMYH02004634;BC022475;BX647805;CH471103;NM_016133;XM_005263690 AAD43048;AAH22475;AAN28333;AAX93280;BAF84122;BAG60785;EAW95199;EAW95200;NP_057217;Q9Y5U4;XP_005263747 Hs.7089 1699334;1768797;1778264;2118254 RH103254;RH11985;STS-AA009428;WI-15665 MGC26273 INSIG-2;INSIG2 membrane protein;OTTHUMP00000064464;insulin induced protein 2;insulin-induced gene 2 protein APPROVED protein-coding ENSG00000125629 HGNC:20452 16361 608660 REVIEWED 1642400 INS-IGF2 INS-IGF2 readthrough This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 2186841 2218946 - 2150342 2182439 - 2129112 2161209 - 6480464;8554872 10431232;10737800;11855150;15008838;15146197;16344560;16531418;17554260;17632545;17667841;17700581;19913121;20628086;20967262;21829393;23935095;2902788;7672495;7913866;8565331 723961 F8WCM5 ABBA01032100;ABBA01032101;ABBA01032102;ABBA01032103;AC130303;AC132217;AI133461;AK291594;AL568676;AMYH02024185;AMYH02024186;AMYH02024187;AW878608;AW878688;AW880662;BE161581;BF205917;BF438519;BI042755;BQ128162;BX369936;CB988622;CN338133;DA775768;DA840311;DA851509;DA858680;DQ104204;DQ104205;NM_001042376;NR_003512 AAI48489;AAI53084;ABD93452;ABD93453;BAF84283;F8WCM5;NP_001035835 Hs.272259;Hs.700350;Hs.716962 1655215;1681803;1682147;1694890;1694904;1732213;1741235;1741327;1741547;1741963;1742581;1743425;1744237;1744849;1771016;1777015;1791768;1792486;1792488;1793412;1798842;1798914;1799502;1799924;1799982;1800260;1800262;1801268;1801586;1801870;1801872;1802614;1803652;1803714;1804022;1804074;1804292;1804294;1804344;1804500;1804574;1804956;1806070;1806132;1807618;1808386;1809490;1811798;1812168;1812452;1813472;1814778;1821198;1835036;1836826;1841096;1847598;2091398;2091400;2091402;2091404;2091406;2091408;2091410;2091412;2091414;2091416;2091418;2091420;2091422;2091424;2091426;2091428;2091430;2091432;2091434;2091436;2091438;2091440;2091442;2091444;2091446;2091448;2091450;2091452;2091454;2091456;2091458;2091460;2091462;2091464;2091466;2091468;2091470;2091472;2091474;2091476;2091478;2091480;2091482;2091484;2091486;2091488;2091490;2091492;2091494;2091496;2091498;2091500;2091502;2091504;2091506;2091508;2091510;2091512;2091514;2091516;2091518;2091520;2091522;2091524;2091526;2091528;2091530;2091532;2091534;2091536;2091538;2091540;2091542;2091544;2091546;2091548;2091550;2091552;2091554;2091556;2091558;2091560;2091562;2091564;2091566;2091568;2091570;2091572;2091574;2091576;2091578;2091580;2091582;2091584;2091586;2091588;2091590;2091592;2091594;2091596;2091598;2091600;2091602;2091604;2091606;2091608;2091610;2091612;2091614;2091616;2091618;2091620;2091622;2091624;2091626;2091628;2091630;2091632;2091634;2091636;2091638;2091640;2091642;2127230;2156096;2190719;2216758;2216760;2216762;2216764;2216766;2216768;2216770;2216772;2216774;2216776;2216778;2216780;2216782;2216784;2216786;2216788;2216790;2216792;5118045;5491330;5492137;5492155;5492164;7187505 A002D21;D11S4734;ECD00261;ECD00298;ECD00602;ECD00816;ECD00845;ECD00988;ECD00989;ECD01506;ECD01671;ECD01816;ECD01817;ECD02194;ECD02732;ECD02763;ECD02927;ECD02954;ECD03070;ECD03071;ECD03096;ECD03179;ECD03218;ECD03418;ECD03988;ECD04020;ECD04781;ECD05174;ECD05737;ECD06903;ECD07090;ECD07233;ECD07757;ECD08420;ECD11676;ECD18671;ECD19577;ECD21742;G44328;G44339;GDB:179433;GDB:180498;GDB:181496;GDB:187027;GDB:197907;GDB:316225;GDB:438178;GDB:572840;GDB:677440;IGF2;Ins1;Ins2;PMC123023P3;PMC124986P1;PMC151856P1;PMC151856P2;PMC21231P1;PMC21842P3;PMC24644P6;REN116979;REN116980;REN116981;REN116982;REN116983;REN116984;REN116985;REN116986;REN116987;REN116988;REN116989;REN116990;REN116991;REN116992;REN116993;REN116994;REN116995;REN116996;REN116997;REN116998;REN116999;REN117000;REN117001;REN117002;REN117003;REN117004;REN117005;REN117006;REN117007;REN117008;REN117009;REN117010;REN117011;REN117012;REN117013;REN117014;REN117015;REN117016;REN117017;REN117018;REN117019;REN117020;REN117021;REN117022;REN117023;REN117024;REN117025;REN117026;REN117027;REN117028;REN117029;REN117030;REN117031;REN117032;REN117033;REN117034;REN117035;REN117036;REN117037;REN117038;REN117039;REN117040;REN117041;REN117042;REN117043;REN117044;REN117045;REN117046;REN117047;REN117048;REN117049;REN117050;REN117051;REN117052;REN117053;REN117054;REN117055;REN117056;REN117057;REN117058;REN117059;REN117060;REN117061;REN117062;REN117063;REN117064;REN117065;REN117066;REN117067;REN117068;REN117069;REN117070;REN117071;REN117072;REN117073;REN117074;REN117075;REN117076;REN117077;REN117078;REN117079;REN117080;REN117081;REN117082;REN117083;REN117084;REN117085;REN117086;REN117087;REN117088;REN117089;REN117090;REN117091;REN117092;REN117093;REN117094;REN117095;REN117096;REN117097;REN117100;REN117101;REN117102;REN117103;RH71336;RH75852;SGC35182;STS-H87011;STS-S77035;WI-14149;stSG548711;stSG548713;stSG548714;stSG548715;stSG548716;stSG548719;stSG548720;stSG548722;stSG548723;stSG548724;stSG548725;stSG548726;stSG548727;stSG548728;stSG548729;stSG548730;stSG548731;stSG548733 INS-IGF2 readthrough transcript protein;INSIGF;OTTHUMP00000200116;OTTHUMP00000232176;insulin, isoform 2;insulin- insulin-like growth factor 2;insulin- insulin-like growth factor 2 read-through;insulin- insulin-like growth factor 2 read-through product APPROVED protein-coding ENSG00000129965 HGNC:33527 REVIEWED 736797 INSL3 insulin-like 3 (Leydig cell) This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 19 19 19 p13.2-p12 17829042 17834041 - 17927322 17932383 - 17816513 17821574 - 1600162;1580863;6480464;7240710;8554872;8699517 12601553 10391220;10451226;10729310;10759163;10899310;10982185;11095425;11147585;11182749;11380919;11383919;11746019;12036966;12114498;12200137;12477932;12506116;12684664;12970298;14615376;15057824;15340161;15489334;15579743;15579790;15592455;15649866;15708846;15755855;15956746;15956751;16010410;16394084;16467267;16687567;16867980;17014531;17028442;17314233;17356050;17437853;17473281;17549672;17559848;17666478;18063691;18310050;18433302;18611973;18772597;19017913;19067106;19086273;19110449;19226271;19329805;19416166;19416188;19416190;19416220;19423540;19755411;19773279;19950223;20082125;20200332;20406964;20438785;20550598;20560146;20570702;20713036;21586896;22216350;22574850;23028900;23150680;23539510;23898208;23928669;24243640;24640568;7559633;7659163;7852540;8020942;8022486;8022790;8034302;8253799;8662778;9354668;9753072 3640 M0QXQ3;P51460 ABBA01051232;ABBA01051233;AC005952;AC007201;AK302780;AMYH02035714;AY082014;BC032810;BC040435;BC053345;BC061886;BC071706;BC106721;BC106722;BC107045;BX334591;CH471106;HC007042;NG_012092;NM_001265587;NM_005543;S72482;X73637 AAB31371;AAD22740;AAH32810;AAH53345;AAH71706;AAI06722;AAI06723;AAL92559;BAG63984;CAA52017;CBH19326;EAW84633;EAW84634;EAW84635;EAW84636;NP_001252516;NP_005534;P51460 Hs.37062 1669313;2118274 D19S992;RH70894 MGC119818;MGC119819;RLF;RLNL;ley-I-L insulin-like 3;leydig insulin -like hormone;leydig insulin -like peptide;leydig insulin-like peptide;prepro-INSL3;relaxin-like factor b APPROVED protein-coding ENSG00000248099 HGNC:6086 08854 146738;219050 REVIEWED 1606091 INSC inscuteable homolog (Drosophila) In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008] 11 11 11 p15.2 15261213 15395928 + 15133970 15268754 + 15112424 15247208 + 6480464;8554872 12469229;12477932;16458856;20065032;20379614;22074847;22219177;22889411;22977735;23251661;23667675 387755 Q1MX18 AB231744;AB231745;AB231746;AB231747;AB231748;AB231749;AB236158;AB236159;ABBA01061094;ABBA01061095;ABBA01061096;AC090744;AMYH02024361;AMYH02024362;BC117561;BC127700;BU147420;DY654442;NM_001031853;NM_001042536;NM_001278313;NM_001278314;NM_001278315;NM_001278316;XM_006718227 AAI27701;AAI56333;AAI57084;BAE17133;BAE17134;BAE17135;BAE17136;BAE46891;BAE46892;BAE93463;BAE93464;NP_001027024;NP_001036001;NP_001265242;NP_001265243;NP_001265244;NP_001265245;Q1MX18;XP_006718290 Hs.591997 1776601 D11S4093 OTTHUMP00000231221;OTTHUMP00000231222;OTTHUMP00000231223;OTTHUMP00000231224;OTTHUMP00000231225;inscuteable spindle orientation adaptor protein;protein inscuteable homolog APPROVED protein-coding ENSG00000188487 HGNC:33116 610668 VALIDATED 1354230 INSL4 insulin-like 4 (placenta) INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq, Jul 2008] 9 9 9 p24 5157038 5159586 + 5231419 5233967 + 5231419 5233967 + 1580863;6480464;8554872 12414911;12477932;12606452;15164053;15340161;15489334;15958731;18035692;19915573;23302396;8666396;8702754;9284764;9730618;9740319 3641 Q14641 ABBA01065416;AK291543;AL133547;AMYH02019083;BC026254;CH471071;HC007044;HC044711;L34838;NM_002195 AAB08516;AAH26254;BAF84232;CBH19327;CBH30685;EAW58772;NP_002186;Q14641 Hs.418506 1846863;2178382;2185206;5107881 A005C10;G20266;RH17848;SHGC-34067 EPIL OTTHUMP00000021025;PLACENTIN;early placenta insulin-like peptide;early placenta insulin-like peptide (EPIL);insulin-like peptide 4 APPROVED protein-coding HGNC:6087 02946 600910 REVIEWED 737125 INSL6 insulin-like 6 The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008] 9 9 9 p24 5089480 5111235 - 5163863 5185618 - 5163863 5185618 - 61639;1580863;6480464 10819760 10598589;12477932;15164053;15489334;19915573 11172 Q9Y581 ABBA01065416;AF135824;AF156094;AL161450;AMYH02019083;AW117587;BC126473;BC126475;CH471071;HC007046;HC044515;NM_007179 AAD39003;AAF29604;AAI26474;AAI26476;ADR82756;CBH19328;CBH30587;EAW58773;NP_009110;Q9Y581 Hs.632648 2109437 INSL6_9233 RIF1 OTTHUMP00000021023;insulin-like peptide 5;insulin-like peptide 6;insulin-like peptide INSL6;relaxin/insulin-like factor 1 APPROVED protein-coding ENSG00000120210 HGNC:6089 08401 606414 REVIEWED 68580 INPPL1 inositol polyphosphate phosphatase-like 1 The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009] 11 11 11 q13 69237286 69251595 + 71934916 71950191 + 72223875 72239147 + 737755;1580863;1626127;2312440;633161;2302068;2312442;6480464;6484113;6907045;8699517;7240710;8554872 11343120;12086927;12453826;15220217;17327370;17371235 10194451;10494849;10610720;10789675;11158326;11238900;11349134;11739414;12147234;12235291;12370370;12477932;12504111;12522270;12690104;15316017;15492005;15557176;15668240;15735664;15777721;16302969;16804414;16842970;17219406;17314030;17557929;17620296;17671700;17672824;17893231;18029348;18061583;18660489;18692052;18991394;19033458;19065064;19380743;19477690;19518129;19531213;19713535;19738201;19765305;19825976;19839650;19880507;19895833;20114020;20114025;20236936;20368287;20453000;20530248;20654688;20697350;21139048;21706016;21770892;21890473;21906983;21918362;21988832;22053931;22079859;22194892;22244754;22593208;22623428;22863883;22939629;23000965;23273567;23273569;23552673;24091101;24133597;24228114;24550385;5668240;8530088;9367831;9660833;9824312 3636 F5GWY9;F5GY16;F5GYK9;F5H588;H0YFB4;H0YFZ4;H7BXR2;O15357 ABBA01017539;AMYH02025075;AP000593;BC140853;BG236320;CH471076;L24444;L36818;NG_023253;NM_001567;XM_005273978;XM_005273979;XM_006718534;XM_006718535;XM_006718536;XM_006718537;Y14385 AAA50503;AAA96658;AAI40854;CAA74743;EAW74854;EAW74855;NP_001558;O15357;XP_005274035;XP_005274036;XP_006718597;XP_006718598;XP_006718599;XP_006718600 Hs.523875 1668792;2106519;2111430;2140245 D11S4140;INPPL1;INPPL1__6468;RH67903 INPPL-1;OPSMD;SHIP-2;SHIP2 51C protein;OTTHUMP00000237158;OTTHUMP00000237159;SH2 domain-containing inositol 5'-phosphatase 2;SH2 domain-containing inositol phosphatase 2;SH2 domain-containing inositol-5'-phosphatase 2;inositol polyphosphate phosphatase-like protein 1;phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2;phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 2;protein 51C APPROVED protein-coding ENSG00000165458 HGNC:6080 02900 258480;600829 REVIEWED 1352498 INSRL insulin receptor-like 3644 HGNC:6092 1346961 INSRR insulin receptor-related receptor ENCODES a protein that exhibits transmembrane receptor protein tyrosine kinase activity; INVOLVED IN actin cytoskeleton reorganization; cellular response to alkaline pH; peptidyl-tyrosine phosphorylation; PARTICIPATES IN prostate cancer pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN receptor complex; INTERACTS WITH diazinon; (-)-epigallocatechin 3-gallate (ortholog); (S)-nicotine (ortholog) 1 1 1 q21-q23 129881880 129899901 - 156810665 156828712 - 156840873 156858920 - 1580863;6480464;6907045;8554872 10226785;10329736;10535406;10640820;1326521;14654552;15629149;16195402;18660489;20734064;21987572;2249481;22939624;23220417;23824460;24121506;2768234;7649121;7829525;8916919 3645 P14616 ABBA01016643;AF064078;AK310760;AL158169;AMYH02001983;CH471121;J05046;JQ991924;NG_007493;NM_014215 AAC17167;AAC31759;AAI56082;AAI57045;AFM93766;EAW52903;EAW52904;NP_055030;P14616 Hs.248138 1339404 D1S1179 IRR IR-related receptor;OTTHUMP00000038715;insulin receptor-related protein protein-coding ENSG00000027644 HGNC:6093 00976 147671 VALIDATED 1346059 INSSA1 insulin synthesis associated 1 50607 HGNC:6094 1342587 INSSA2 insulin synthesis associated 2 50606 AW600301 protein-coding HGNC:6095 1315853 INSM2 insulinoma-associated 2 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid 14 14 14 q13.2 15867108 15870120 + 36003248 36006260 + 35534042 35537054 + 1580863;6480464 12477932;14702039;20091020;20211142;21343251 84684 Q96T92 AB037912;ABBA01061507;AF260323;AK096639;AL160231;AMYH02029010;BC130377;BC130379;CH471078;NM_032594 AAI30378;AAI30380;AAK49393;BAB69042;BAC04830;EAW65872;NP_115983;Q96T92 Hs.62813 IA-6;IA6;mlt1 OTTHUMP00000178845;insulinoma-associated protein 2;insulinoma-associated protein IA-6;zinc finger protein IA-6 protein-coding ENSG00000168348 HGNC:17539 17152 614027 VALIDATED 1319934 INSM1 insulinoma-associated 1 Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008] 20 20 20 p11.2 20422836 20425664 + 20348765 20351593 + 20368121 20370949 + 1580863;6480464 11780052;11842116;11854618;12079283;12890672;16169070;1634555;16511571;16569215;18051367;18205207;18417529;19124461;19246490;19604042;20215568;21609490;21830214;23383108;8188699;9245732 3642 Q01101 ABBA01054088;ABBA01054089;AL161658;AMYH02036802;AMYH02036803;BM503821;M93119;NM_002196;U07172 AAA20938;AAA58680;NP_002187;Q01101 Hs.89584 1791298;2108171;2120266;2121433;2139832;5492755 D20S1101;INSM1_8421;PMC100352P1;RH67943;STS-M93119;UniSTS:482301 IA-1;IA1 OTTHUMP00000030378;insulinoma-associated protein 1;zinc finger protein IA-1 APPROVED protein-coding ENSG00000173404 HGNC:6090 02480 600010 REVIEWED 69029 INSR insulin receptor After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3-p13.2 7049684 7205258 - 7112266 7294011 - 7112255 7294328 - 1302524;1300048;1302526;1625124;1302525;1302523;1580863;1299201;1580595;1302575;2290465;2290446;2290447;2313694;2290454;2290460;2307338;2307339;2307341;2307335;2307343;2307333;2307336;2307025;2307334;2307342;2307344;2290462;2290475;6480464;6484113;6907045;7240710;8554872;8699517 10949030;11877471;12110165;12850498;12891559;14722613;15254588;15753986;15967097;17050616;17221153;17347799;17556377;17855644;18042933;18331706;18376071;18430054;18638371;18925540;18972094;19179458;19224872;19251743;19340286;8518410;9809695 10026153;10084586;10196204;10340378;10437794;10443650;10453981;10482988;10500481;10594240;10598578;10615944;10635327;10650943;10733238;10747347;10764799;10803466;10805733;10816433;10830280;10871840;10896916;10921922;10978177;11001060;11071852;11075717;11094073;11158333;11208515;11232039;11260230;11266508;11279102;11289049;11342531;11374898;11401470;11409918;11500939;11506178;11551902;11604231;11606564;11694516;11726652;11735220;11781100;11866509;11875066;11994298;11997497;12023989;12031977;12031982;12107746;12112020;12125099;12138094;12153558;12193537;12237455;12237775;12270939;12420346;12456798;12468540;12477518;12477932;12493740;12504111;12538626;12560330;12575209;12612081;12613967;12634852;12654724;12660731;12665574;12711007;12730241;12732844;12734206;12738810;12850828;12878213;12881524;12970295;1304913;1314826;1315125;1321126;1321605;1324934;1331107;1373652;14551916;14568990;14690593;14693412;1472036;14722023;14729945;15031295;15061947;15069075;15114529;15161766;15169905;15182363;15192089;15205474;15233842;15240646;15337529;15485753;15498182;15514089;15522217;15563471;15581831;15582274;15588985;15590636;15629149;15632081;1563582;15664450;15694368;15708546;15715521;15735664;15738637;15745246;15767667;15799978;15862945;15924147;15938783;15951569;1607067;1607076;16084832;16127460;16137651;16314505;16382134;16434550;1644241;16473310;1648089;16510536;1657953;16582879;16761106;16806206;16814253;16831875;16946708;16962112;17001305;17078079;17102568;17159996;17201797;17229154;17275003;1730625;17325037;17340225;17344070;17348446;17374711;17416760;17434141;17445799;17475934;17563065;17563366;17577576;17620296;17658524;17854350;17855343;17914103;17925406;17957771;17965293;18048361;18249389;18318661;18348886;18455362;18535540;18556968;185872;18616667;18660489;18676680;18693051;18708119;18711691;18716398;18767165;18785179;18828733;18834871;1890161;1898103;18991400;18996102;19047369;19051206;19064572;19135752;19139090;19167335;19170196;19170714;19211708;19219452;19246519;19326042;19387820;19406747;19459609;19541767;19560451;1956339;19575708;19578796;19625176;1963473;19654240;19688022;19692168;1971035;19720790;19815552;19817984;19835884;1986371;19898946;19913121;19926323;1993068;19948975;19950604;19996272;20009360;2002058;20068229;20200332;20339196;20348418;20360006;20360068;2040394;20416077;20421297;20468064;20493471;20521171;20568733;20602615;20620597;20624623;20628086;20634197;20674666;20734064;20849815;20855565;20857837;20881960;20971123;21082232;21113646;21123448;21139137;21177763;21204696;2121734;21300347;21318406;21346174;21410323;21441570;21487008;21524684;21535266;21602145;21645371;21680660;2168397;21838706;21869538;21906983;21908557;21913804;21963094;21987572;21988832;22017372;22046260;22081023;22082268;22099628;2210055;2211730;22132154;22140443;22140505;22161861;22189999;22278432;22278734;22318726;22404968;22438913;22466604;22493691;22505724;22534794;22541124;22590634;22629383;22705438;22768670;22775283;2280779;22825921;22879999;22885925;22971162;22974441;22982059;23018458;23059533;23190452;23251408;23263486;23302862;23303383;23348915;23363253;23386514;23395167;23408906;23602568;23633480;2365819;23666741;23697264;2369896;23950881;24078630;24097068;24127567;24508798;24568043;2460770;24683100;2479553;24867955;24939305;24970814;2538124;2544997;2544998;2550426;2566545;2573522;2777789;2806055;2834824;2842060;2859121;2983222;2986535;3101064;3109943;3166375;3283938;3447155;3518947;3546306;3680248;6849137;7028018;7479769;7493946;7512963;7529876;7535775;7537849;7538143;7556070;7559478;7592607;7613486;7626603;7657032;7693131;7794689;7806540;7815442;7836419;7860063;7895674;7906861;7926007;7929343;7935368;7953556;7983039;7997262;8027066;8082780;8096518;8101305;8114715;8135823;8188715;8242067;8243830;8276809;8288049;8314008;8326490;8347587;8385099;8388389;8390949;8419945;8432414;8440175;8452530;8454633;8458533;8463287;8463311;8496180;8504096;8513978;8557631;8603569;8621530;8626379;8636294;8639568;8662806;8692915;8702728;8826975;8890729;8900242;8912646;8916919;9006901;9083103;9092546;9092559;9121430;9122188;9175790;9195949;9197239;9199575;9249867;9299395;9312016;9355745;9398630;9428692;9446569;9449692;9492017;9506989;9507031;9524259;9658397;9703342;9710204;9722981;9741627;9742218;9748281;9756945;9819385;9819414 3643 M0R3E6;P06213 AB208861;ABBA01051482;ABBA01051483;ABBA01051484;ABBA01051485;ABBA01051486;ABBA01051487;ABBA01051488;ABBA01051489;ABBA01051490;ABBA01051491;ABBA01051492;ABBA01051493;ABBA01051494;ABBA01051495;ABBA01051496;ABBA01051497;AC010311;AC010526;AC010606;AC125387;AK025527;AL365454;AMYH02035377;AMYH02035378;AMYH02035379;AMYH02035380;AMYH02035381;AMYH02035382;AMYH02035383;BC047591;BC117172;CH471139;DQ021481;DQ311687;DQ311689;DQ311690;DQ333191;DQ333192;DQ333193;DQ333194;DQ333195;DQ333196;EU331144;J03466;J05043;KC877697;KF456489;M10051;M24555;M27197;M29929;M29930;M32972;M76592;NG_008852;NM_000208;NM_001079817;S76825;X02160;XM_005259554;XM_006722743;XM_006722744 AAA59174;AAA59175;AAA59176;AAA59177;AAA59178;AAA59190;AAA59452;AAA86791;AAB33426;AAC37604;AAH47591;AAI17173;AAY44085;ABC46548;ABC46549;ABC46550;ABC46551;ABC46552;ABC46553;ABC55359;ABC55361;ABC55362;ABY54905;BAD92098;CAA26096;EAW69042;EAW69043;EAW69044;EAW69045;EAW69046;EAW69047;NP_000199;NP_001073285;P06213;XP_005259611;XP_006722806;XP_006722807 Hs.465744 1667121;1675353;1679962;1687560;1690099;1690340;1721685;1740993;1741105;1741743;1744503;1787762;1792512;2128448;2148225;2168913;2172560;2218554;5020992;5117326;5119549 G07087;G10600;G59704;GDB:177221;GDB:177257;GDB:177803;GDB:182561;GDB:511361;GDB:511368;INSR_4112;Insr;PMC152545P1;RH45939;RH66229;RH80156;RH80628;RH92589;RH93377;SHGC-173117;SHGC-32871;STS-X02160 CD220;HHF5;IR APPROVED protein-coding ENSG00000171105 HGNC:6091 00975 147670;246200;262190;609968;610549 REVIEWED 1606257 INTS2 integrator complex subunit 2 INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 17 17 17 q23.2 59043908 59106528 - 59942728 60005377 - 61865367 61928016 - 6480464;8554872 10574462;11076863;11230166;11256614;15489336;16239144;16381901;19946888;20133760;21139048;21906983;21963094;22053931;22505724;22939629;23455924;23667531;24250222 57508 J3KMZ7;J3KRH0;Q9H0H0 AB033113;ABBA01035375;ABBA01035376;AC060798;AK299032;AK308307;AL136800;AMYH02033748;AMYH02033749;AMYH02033750;AMYH02033751;AMYH02033752;BK005721;CH471179;CR533582;KF456301;NM_020748;NR_026641;XM_005257537;XM_006721987 BAA86601;BAG61107;CAB66734;CAG38656;CAL38257;DAA05721;EAW51434;EAW51435;EAW51436;NP_065799;Q9H0H0;XP_005257594;XP_006722050 Hs.279646 2187578;5015619 D11S3114;RH46380 INT2;KIAA1287 APPROVED protein-coding ENSG00000108506 HGNC:29241 11137 611346 VALIDATED 1350939 INSL5 insulin-like 5 The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq, Jul 2008] 1 1 1 p31.3 65553402 65556917 - 67263424 67266942 - 66797741 66801259 - 1580863;6480464 10458910;12477932;12975309;15340161;15489334;15525639;18577758;19178384;20800603;23128569;23438439;25043977;2834384;8702754 10022 Q9Y5Q6 ABBA01074527;AF133816;AL354978;AMYH02001195;AY359030;BC101646;BC101648;CH471059;NM_005478 AAD29686;AAI01647;AAI01649;AAQ89389;EAX06516;NP_005469;Q9Y5Q6 Hs.251380 2106521 INSL5__6469 MGC126695;MGC126697;PRO182;UNQ156 OTTHUMP00000010744;insulin-like peptide 5;insulin-like peptide INSL5;prepro-INSL5 APPROVED protein-coding ENSG00000172410 HGNC:6088 08400 606413 REVIEWED 1603299 INTS3 integrator complex subunit 3 INTS3 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]). INTS3 is also a subunit of single-stranded DNA (ssDNA)-binding complexes involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010] 1 1 1 q21.3 126772168 126818149 + 153700526 153746555 + 153728050 153774079 + 6480464 11483580;12477932;14702039;15302935;15489334;16239144;16710414;17643375;18449195;19322201;19471022;19605351;19683501;19759019;19786574;20133760;21139048;21252943;21693764;21832049;21890473;21906983;21963094;22939629;23667531;23986477;24250222;24332808;24457600;8125298 65123 H0Y8Z1;Q68E01 ABBA01049448;ABBA01049449;ABBA01049450;AF130066;AK025572;AK055174;AK074979;AK126799;AK225294;AK290025;AK298746;AK304874;AL080172;AL513523;AL832133;AMYH02001907;BC025254;BC054513;BC073985;BC098431;BC105092;BC105094;BC116458;BK005722;BX640786;BX640950;CH471121;CR627233;CR749212;CR749376;NM_023015;XM_005245459;XM_005245461;XM_005276735;XM_005276737;XM_006711490;XM_006711491;XM_006726204;XM_006726205;XR_241094;XR_254195 AAG35494;AAH25254;AAH54513;AAH73985;AAH98431;AAI05093;AAI05095;AAI16459;BAB15174;BAC11329;BAF82714;BAG60890;BAG65611;CAE45876;CAE45974;CAH10366;CAH10398;CAH18069;CAH18229;DAA05722;EAW53279;EAW53280;EAW53281;EAW53282;EAW53283;NP_075391;Q68E01;XP_005245516;XP_005245518;XP_005276792;XP_005276794;XP_006711553;XP_006711554;XP_006726267;XP_006726268 Hs.516522 1649274;1676123;1734638;1752101;1856468;5014063 AFMa082wc1;D15S1390;D1S1775E;RH80662;SHGC-106037;WI-15199 C1orf193;C1orf60;DKFZp686E1950;DKFZp686O20115;DKFZp781I1253;FLJ21919;FLJ44849;INT3;RP11-216N14.2;SOSS-A OTTHUMP00000035161;OTTHUMP00000038687;OTTHUMP00000222672;RP11-216N14.4;SOSS complex subunit A;SOSSA;sensor of single-strand DNA complex subunit A;sensor of ssDNA A;sensor of ssDNA subunit A APPROVED protein-coding ENSG00000143624 HGNC:26153 08644 611347 VALIDATED 2306249 INTS4P2 integrator complex subunit 4 pseudogene 2 11 7 7 q11.21 74910883 74975602 - 65112777 65183632 + 65647864 65718653 + 6480464 12477932;15489334;21906983;22939629;9847074 644619 Q2T9F4 ABBA01008770;AC073107;AC104057;AMYH02015890;AMYH02015891;AMYH02015892;BC111554;NR_027392 AAI11555;Q2T9F4 Hs.676517 MGC133166 APPROVED pseudo ENSG00000273024 HGNC:22351 VALIDATED 1606801 INTS1 integrator complex subunit 1 INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 7 7 7 p22.3 1477287 1511447 - 1509913 1544018 - 1470277 1504382 - 6480464 10718198;12477932;12975309;14702039;15489334;16169070;16239144;16344560;16421571;17643375;19946888;20133760;21139048;21252943;21890473;21906983;21963094;21987572;22118674;22586326;23667531;24332808;24457600;24816145 26173 A4D212;H7C582;Q8N201 AB037861;ABBA01039343;AC093734;AC102953;AI935093;AK128368;AL050110;AL137358;AMYH02015055;AY358482;BC004286;BC013367;BC018777;BC069262;BF346658;BK005720;BM547069;BM553299;BX324321;CH236953;DB113520;NM_001080453 AAH04286;AAH13367;AAH18777;AAH69262;AAQ88846;BAA92678;CAB43278;CAB70710;DAA05720;EAL23941;EAL23942;NP_001073922;Q8N201 Hs.532188 1704026;2140492 SHGC-77811;STS-W93022 DKFZp586J0619;FLJ46624;INT1;KIAA1440;NET28 OTTHUMP00000200439 APPROVED protein-coding ENSG00000164880 HGNC:24555 611345 VALIDATED 1603295 INTS5 integrator complex subunit 5 INTS5 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 11 11 11 q12.3 59743866 59750321 - 62414320 62420774 - 62646848 62653302 - 6480464 11214970;12477932;14702039;15302935;15489334;16239144;19946888;20133760;22797925;24250222 80789 Q6P9B9 AB051485;ABBA01003232;AK074261;AK123587;AMYH02024894;AP001458;BC028025;BC060841;BK005724;CH471076;NM_030628 AAH28025;AAH60841;BAB21789;DAA05724;EAW74051;NP_085131;Q6P9B9 Hs.458390 1686180;1773663;2182653 G17565;IB3108;RH80481 INT5;KIAA1698 OTTHUMP00000236323 APPROVED protein-coding ENSG00000185085 HGNC:29352 13883 611349 PROVISIONAL 1602701 INTS10 integrator complex subunit 10 INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 8 8 8 p21.3 18638388 18673063 + 19674876 19709589 + 19817149 19852078 + 6480464;8554872 12477932;12620389;14702039;15489334;16239144;18029348;18193046;18562274;20133760;21906983;21907836;22076464;23505323;24250222;24816145 55174 E5RHN1;E5RJN5;H0YAU7;H0YAY7;H0YB36;H0YB48;H0YBB0;H0YBH6;H0YBW3;H0YC09;Q9NVR2 ABBA01021553;AC107964;AI479676;AK001431;AK092931;AL442078;AMYH02017567;BC001915;BC006209;BC051282;BK005727;BM547763;CH471080;CR457262;NM_018142;XM_005273555;XM_005273556;XM_005273557;XM_005273558;XM_006716355 AAH01915;AAH06209;AAH51282;BAA91687;CAC09444;CAG33543;DAA05727;EAW63765;EAW63766;EAW63767;EAW63768;EAW63769;NP_060612;Q9NVR2;XP_005273612;XP_005273613;XP_005273614;XP_005273615;XP_006716418 Hs.512627 1644597;1644599;1776899;1856385;2120941;2133909;2142887;2168564;2172882;2185125 A001Y30;D8S1645;G19791;G32155;G33452;IB1194;RH11513;RH16175;SHGC-35965;SHGC-36691 C8orf35;FLJ10569;INT10 OTTHUMP00000161699 APPROVED protein-coding ENSG00000104613 HGNC:25548 07686 611353 VALIDATED 5687502 INTS6-AS1 INTS6 antisense RNA 1 13 13 13 33076644 33078019 + 52027481 52028852 + 51453345 51454716 + 12477932 100507398 ABBA01051048;AL354820;AMYH02028032;BC045725;NR_103812 Hs.594897 APPROVED ncrna ENSG00000236778 HGNC:42691 VALIDATED 6768994 INTS6P1 integrator complex subunit 6 pseudogene 1 5 5 5 p13.1 39606819 39609347 - 39719086 39721614 - 39718984 39721512 - 16007164 285634 ABBA01024215;AC093217;AMYH02011200;NG_021845 1699466 RH103325 pseudo HGNC:43921 INFERRED 1601748 INTS12 integrator complex subunit 12 INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 4 4 4 q24 103902937 103929034 - 106603784 106629881 - 105682627 105708724 - 6480464 12477932;15489334;16239144;17207965;18562274;19460752;19471022;20010835;20133760;20332099;21139048;21252943;21693764;21832049;23284291;24023788;24058608 57117 C9J0M6;C9JDP3;C9JJW5;D6R9W3;D6R9Y5;E9PGI3;Q96CB8 ABBA01063735;AC105391;AF242524;AK314939;AMYH02009853;BC014442;BK005729;CH471057;CS300539;NM_001142471;NM_020395;XM_005263148;XM_005263149 AAF99604;AAH14442;ADQ31768;BAG37445;CAK32203;DAA05729;EAX06189;EAX06190;NP_001135943;NP_065128;Q96CB8;XP_005263205;XP_005263206 Hs.480454 2140023;2156252;2167667;2171920;2178768;2186703 D4S2512E;G33860;G33866;RH12718;SHGC-59800;SHGC-8562 INT12;PHF22;SBBI22 OTTHUMP00000161874;OTTHUMP00000161875;OTTHUMP00000197660;PHD finger protein 22;hypothetical nuclear factor SBBI22 APPROVED protein-coding ENSG00000138785 HGNC:25067 11271 611355 VALIDATED 1603936 INTS4 integrator complex subunit 4 INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 11 11 11 q14.1 74898249 75014187 - 77589766 77705771 - 77878720 77994718 - 6480464 12477932;15489334;16239144;16751776;17010949;17643375;19471022;20133760;21139048;21693764;21906983;22250197;22505724;22797925;22939629;24163370;24816145 92105 E9PIM3;F8WAA7;Q96HW7 ABBA01017416;ABBA01017417;AF172822;AK000455;AK290866;AL834171;AMYH02025144;AP002812;AP003032;BC006369;BC008013;BC009859;BC009995;BC015664;BC018672;BE727962;BK005723;CH471076;DQ596928;NM_033547;XM_005274393 AAH06369;AAH08013;AAH09859;AAH09995;AAH15664;AAQ13616;ABZ92084;BAF83555;DAA05723;EAW75041;NP_291025;Q96HW7;XP_005274450 Hs.533723 1649353;1672135;5015621;5037552 D11S3732;D8S2279;RH12075;WI-12358 INT4;MGC16733;MST093 MSTP093;OTTHUMP00000233860 APPROVED protein-coding ENSG00000149262 HGNC:25048 12386 611348 VALIDATED 1348101 IOSCA infantile onset spinocerebellar ataxia (autosomal recessive) ASSOCIATED WITH MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (inferred); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 (inferred) 7240710 3648 HGNC:6103 271245;609286 1603513 INTS4P1 integrator complex subunit 4 pseudogene 1 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); Aroclor 1254 (ortholog); potassium dichromate (ortholog) 7 7 7 q11.21 58743456 58746141 - 64601577 64673285 + 65141208 65233092 + 6480464 12477932;21906983 285905 Q96LV5 ABBA01049026;AC104073;AK057766;AMYH02015866;AMYH02015867;AMYH02015868;AMYH02015869;AMYH02015870;AMYH02015871;AMYH02015872;XR_426205;XR_428278;XR_432251 BAB71563;Q96LV5 Hs.567827 FLJ25037;MGC133166 APPROVED pseudo HGNC:21925 08045 MODEL 1319842 INTS6 integrator complex subunit 6 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and located in the critical region of loss of heterozygosity (LOH). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q14.3 32984868 33076442 - 51927678 52027275 - 51361565 51453139 - 1580863;6480464 10467397;11939413;12477932;12527901;14702039;15057823;15254679;15489334;16007164;16239144;16271964;17310990;18029348;18854154;20133760;21906983;21963094;22360420;23280823;23986477;24250222;24332808;24457600 26512 B3KQH5;B4DL13;B4E1J5;C9J885;C9JAV7;C9JVX2;C9JXP6;C9K0V7;F8WAV7;G5E9X1;Q9UL03 ABBA01051048;AF086440;AF097645;AF141326;AK074946;AK096696;AK128795;AK296801;AK303869;AK304218;AL117626;AL137780;AL354820;AL833524;AMYH02028031;AMYH02028032;AX019045;BC013358;BC018725;BC032386;BC039829;BC040581;BC094745;BK005730;CH471075;CQ783768;NM_001039937;NM_001039938;NM_012141;XM_005266340;XM_005266341 AAD39481;AAF03046;AAH13358;AAH18725;AAH32386;AAH39829;BAG52037;BAG53352;BAG54738;BAG59375;BAG64807;BAG65090;CAB56020;CAC07726;CAF86852;DAA05730;EAX08873;EAX08874;EAX08875;EAX08876;EAX08877;EAX08878;EAX08879;EAX08880;EAX08881;NP_001035026;NP_001035027;NP_036273;Q9UL03;XP_005266397;XP_005266398 Hs.439440 1658924;1699466;1709768;1731809;2109223;2187166 D13S315;DDX26_9492;RH103325;RH47936;SHGC-84699;WI-22746 DBI-1;DDX26;DDX26A;DICE1;DKFZp434B105;HDB;INT6;Notchl2;RP11-24B19.3;RP11-24B19.4 DEAD box protein;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26;OTTHUMP00000018439;OTTHUMP00000215034;OTTHUMP00000215036;OTTHUMP00000215038;OTTHUMP00000215039;RNA helicase HDB;protein deleted in cancer 1 APPROVED protein-coding ENSG00000102786 HGNC:14879 05063 604331 REVIEWED 1319793 INTU inturned planar cell polarity protein INVOLVED IN cilium assembly (ortholog); limb development (ortholog); nervous system development (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 4 4 4 q28.1 125933098 126016912 + 128554087 128637934 + 127632932 127716779 + 737633;1580863;6480464;8554872 12477932 10574462;14702039;15489334;15815621;16344560;16493421;21761479;21948523 27152 H0YA54;H0YAI1;J3QTA5;Q9ULD6 AB033110;ABBA01044793;ABBA01044794;AC093591;AC097462;AC110797;AK123320;AK291481;AMYH02010067;AMYH02010068;AMYH02010069;BC051698;BC130611;BC144182;CH471056;CS300683;DB195553;DB302901;HQ234311;NM_015693 AAH51698;AAI30612;AAY41002;ADR83432;BAA86598;BAF84170;BAG53888;CAK32347;EAX05201;EAX05202;NP_056508;Q9ULD6 Hs.391481 1698592;1752995;2138460;2219484;5020279 D4S2567E;G34402;PDZK6__5855;RH102848;SHGC-77921 FLJ41326;INT;KIAA1284;PDZD6;PDZK6 OTTHUMP00000219892;PDZ domain containing 6;PDZ domain-containing protein 6;homolog of inturned;inturned planar cell polarity effector homolog;protein inturned APPROVED protein-coding HGNC:29239 15113 610621 VALIDATED 1604023 INTS7 integrator complex subunit 7 This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 1 1 1 q32.3 185341779 185435963 - 212113741 212209002 - 211940399 212035660 - 6480464;8554872 11076863;11230166;12477932;14702039;15489334;15489336;16239144;16344560;16381901;17643375;18187620;18213392;20133760;20379614;20457598;21139048;21890473;21906983;21963094;21987572;22053931;22365631;22505724;22939629;22990118;23000965;23667531;24250222;24778252;24816145 25896 Q9NVH2 ABBA01048185;AC092814;AK001363;AK001598;AK022509;AK022589;AK297225;AL117576;AL133049;AMYH02002630;AMYH02002631;BC009918;BC020523;BC030716;BC033918;BC036009;BK005725;CH471100;DB062625;NM_001199809;NM_001199811;NM_001199812;NM_015434;NR_037667 AAH20523;AAH30716;AAH33918;BAA91650;BAA91779;BAB14067;BAB14116;BAG59708;CAB56000;CAB61376;CAL37532;DAA05725;EAW93400;EAW93401;EAW93402;EAW93403;EAW93404;EAW93405;EAW93406;NP_001186738;NP_001186740;NP_001186741;NP_056249;Q9NVH2 Hs.369285 1661715;1678327;1697040;1698946;1781688;2139601;2171980;5014051;5037552 AL010016;AL010091;D8S2278;D8S2279;RH101997;RH103042;RH92189;SHGC-155060;SHGC-53775 C1orf73;DKFZp434B168;INT7 OTTHUMP00000035211;OTTHUMP00000035212;OTTHUMP00000035213 APPROVED protein-coding ENSG00000143493 HGNC:24484 08522 611350 REVIEWED 1346242 IP2 incontinentia pigmenti 2 (familial, male-lethal type) ASSOCIATED WITH Atypical Mycobacteriosis, Familial, X-Linked 1 (inferred); Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (inferred); Ectodermal dysplasia, hypohidrotic, with immune deficiency (inferred) 7240710 HGNC:6105 300291;300301;300584;300636;300640;308300 1348932 IP1 incontinentia pigmenti 1 (sporadic, associated with X chromosome rearrangements) HGNC:6104 1603989 INTS9 integrator complex subunit 9 This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] 8 8 8 p21.1 27585025 27707519 - 28625175 28747698 - 28767658 28890181 - 6480464;8554872 10493829;12477932;14702039;15489334;15684398;16239144;16421571;20133760;21890473;21906983;22252320;22505724;22863883;22939629;23667531;8125298 55756 B7Z3J7;E5RG70;E5RGY2;E5RJ88;E5RK47;G3XAN1;H0YBH8;H0YBK3;H0YBQ3;Q9NV88 AA825242;ABBA01005608;ABBA01005609;ABBA01005610;AC040975;AC131969;AK001733;AK225072;AK225530;AK295977;AK298468;AK300593;AK304525;AMYH02017691;AMYH02017692;BC016687;BC025267;BK005674;BK005726;CH471080;DC339488;KF458721;KF458722;NG_016981;NM_001145159;NM_001172562;NM_018250;NR_026826;U96629;XM_005273568;XM_006716356;XM_006716357 AAB67601;AAH25267;ACE86526;ACE87205;BAA91867;BAH12233;BAH12796;BAH13311;BAH14206;DAA05670;DAA05726;EAW63504;EAW63505;EAW63506;NP_001138631;NP_001166033;NP_060720;Q9NV88;XP_005273625;XP_006716419;XP_006716420 Hs.162397 1848093;2112248;2118295;2165666;5122997 D8S1973;D8S2263;RH12254;SHGC-24116;SHGC-31253 CPSF2L;FLJ10871;INT9;RC-74;RC74 OTTHUMP00000225629;OTTHUMP00000225630;OTTHUMP00000225631;OTTHUMP00000225632;protein related to CPSF subunits of 74 kDa APPROVED protein-coding ENSG00000104299 HGNC:25592 07706 611352 REVIEWED 1350328 IP6K3 inositol hexakisphosphate kinase 3 This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008] 6 6 6 p21.31 35243832 35269147 - 33689415 33714762 - 33721638 33746985 - 1580863;6480464;8554872 11502751;12477932;14702039;19851445;20558539;23850713;8125298 117283 A8K1M0;Q5TAQ4;Q96PC2 ABBA01038162;AF393812;AK056586;AK223572;AK289935;AL139044;AMYH02013499;AMYH02013500;BC089389;CH471081;NM_001142883;NM_054111;XM_005248842;XM_005248843 AAH89389;AAL17053;BAB71225;BAD97292;BAF82624;EAX03746;EAX03747;EAX03748;EAX03749;NP_001136355;NP_473452;Q96PC2;XP_005248899;XP_005248900 Hs.17253 1647496;2109429;2119732;2145175;2185855 IHPK3__6452;RH46715;SGC33754;STS-AA036643;STS-H71782 IHPK3;INSP6K3;MGC102928 ATP:1D-myo-inositol-hexakisphosphate phosphotransferase;InsP6 kinase 3;OTTHUMP00000016212;inositol hexaphosphate kinase 3 APPROVED protein-coding ENSG00000161896 HGNC:17269 07381 606993 REVIEWED 1604344 INTS8 integrator complex subunit 8 This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 8 8 8 q22.1 92020737 92077921 + 95835518 95892721 + 94823290 94880493 + 6480464 12477932;14702039;15489334;16239144;16344560;17081983;20133760;20379614;21139048;21906983;22939629;8125298;8889549 55656 E5RG48;E5RH10;E5RIN8;E5RJF0;E5RJL5;H0YBQ1;H0YBS1;H0YC12;J3KNV5;Q75QN2 AB161944;ABBA01037467;ABBA01037468;AK000537;AK001403;AK091278;AK225533;AMYH02018436;AMYH02018437;AMYH02018438;AP003692;BC050536;BC064915;BC099915;BC136754;BC144396;BC144397;BK005731;BM474137;BX538203;CA867295;CH471060;DA644524;DA763041;NM_017864;NR_073444;NR_073445;XM_006716602;XM_006716603 AAH50536;AAH64915;AAI36755;BAA91238;BAA91671;BAD10863;BAG52322;CAD98067;DAA05731;EAW91726;NP_060334;Q75QN2;XP_006716665;XP_006716666 Hs.727669 1645266;1647646;1726725;1786598;1795486 CCNE2_76;G62750;SHGC-142554;SHGC-30660;WI-18070 C8orf52;FLJ20530;INT8;MGC131633 OTTHUMP00000227242;OTTHUMP00000227243;OTTHUMP00000227245;protein kaonashi-1 APPROVED protein-coding ENSG00000164941 HGNC:26048 08626 611351 REVIEWED 1604022 INVS inversin This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012] 9 9 9 q31 73374912 73576755 + 102861467 103063908 + 100099185 100301626 + 6480464;7240710;8554872;8699517 11941489;12221118;12477932;12872123;15164053;15231748;15342556;15489334;15533716;15723066;15852005;16189514;16522655;16642442;17216245;18218308;18371931;19066617;19177160;20301743;20798123;21068128;21890473;22863007;23551011;23559409;23793029;8480178;9792867 27130 Q2M1I4;Q9Y283 ABBA01042890;ABBA01042891;ABBA01042892;AF039217;AF084367;AF084382;AI792224;AK304851;AK312795;AL137072;AL356798;AL445214;AMYH02021334;AMYH02021335;AMYH02021336;AMYH02021337;BC006370;BC041665;BC056897;BC063847;BC072429;BC111761;BC112351;BP280580;CH471105;NG_008316;NM_014425;NM_183245;NR_051962;XM_005251923;XM_005251924;XR_242585;XR_242586;XR_428522 AAC79436;AAC79456;AAC79457;AAD02131;AAH06370;AAH41665;AAI11762;AAI12352;BAG65590;EAW58924;EAW58925;EAW58926;NP_055240;NP_899068;Q9Y283;XP_005251980;XP_005251981 Hs.558477 1687099;1735874;1770579;2125314;2137496;2186428 A008U06;D9S2039;D9S788;D9S998E;RH93259;SHGC-18202 INV;KIAA0573;MGC133080;MGC133081;NPH2;NPHP2 OTTHUMP00000021789;OTTHUMP00000021790;inversion of embryo turning homolog;inversion of embryonic turning;nephrocystin 2;nephrocystin-2 APPROVED protein-coding ENSG00000119509 HGNC:17870 08356 243305;602088 REVIEWED 4889662 IPMKP1 inositol polyphosphate multikinase pseudogene 1 13 13 13 q12.12 4473253 4474896 - 23406283 23412639 - 22832144 22838500 - 401730 ABBA01068626;AL162853;AMYH02027683;NG_011396 KIAA0263 pseudo HGNC:39354 VALIDATED 1343323 IP6K1 inositol hexakisphosphate kinase 1 This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011] 3 3 3 p21.31 49726419 49789549 - 49761728 49823973 - 49724295 49786540 - 1580863;6480464 10567691;10574768;10827188;11502751;11516400;12477932;15221640;15489334;16189514;16344560;16712791;16751776;18029348;19208622;20307617;21078624;21139048;23128233;23322705;24250222;24865181;9039502;9776982 9807 C9JNA8;Q92551 ABBA01024574;ABBA01024575;ABBA01024576;ABBA01024577;AC099668;AC139451;AC141000;AK289772;AK295689;AL561521;AMYH02006756;AMYH02006757;AMYH02006758;AMYH02006759;BC012944;BE387671;BG720032;BI193048;CB152138;CH471055;D87452;DB099697;NM_001006115;NM_001242829;NM_153273 AAH12944;BAA13393;BAF82461;BAG58541;EAW65016;EAW65017;EAW65018;EAW65019;EAW65020;NP_001006115;NP_001229758;NP_695005;Q92551 Hs.386168 1668261;1670270;1686604;1735236;1735296;1767084;2108793;2128368;2182057 D20S781;D3S2901E;D3S2937E;IHPK1_8995;RH45600;RH47478;RH78246;RH81036;WI-18664 IHPK1;MGC9925;PiUS ATP:1D-myo-inositol-hexakisphosphate phosphotransferase;OTTHUMP00000212676;OTTHUMP00000212677;OTTHUMP00000212678;Pi uptake stimulator;inositol hexaphosphate kinase 1;insP6 kinase 1 APPROVED protein-coding ENSG00000176095 HGNC:18360 07379 606991 REVIEWED 737355 IPMK inositol polyphosphate multikinase This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010] 10 10 10 q21.1 53220872 53292609 - 59951278 60027694 - 58191517 58267934 - 1580863;6480464;6907045 12027805;12223481;12477932;14702039;15101685;15489334;15659385;16247451;16293229;17981594;18029348;21906983;22715467;22718630;23050966;23128233;23251661;23322705;23550211;23870195;24074953;24250222 253430 Q8NFU5 ABBA01019436;AC016396;AC026884;AF432853;AK096839;AMYH02023156;BC016612;BC065709;BK000580;CH471083;KF511095;NM_152230 AAH65709;AAM97838;BAG53373;DAA01362;EAW54161;NP_689416;Q8NFU5 Hs.30280 1723995;1731038;5017080;5038338 D10S268;ECD08264;REN77673;RH118949 OTTHUMP00000019630;inositol 1,3,4,6-tetrakisphosphate 5-kinase APPROVED protein-coding ENSG00000151151 HGNC:20739 17153 609851 REVIEWED 1313095 IPO4 importin 4 ENCODES a protein that exhibits Ran GTPase binding (inferred); INVOLVED IN DNA replication-dependent nucleosome assembly; DNA replication-independent nucleosome assembly; FOUND IN membrane; nuclear chromatin; protein complex; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; atrazine 14 14 14 q12 4513896 4522596 - 24649425 24658124 - 24180219 24188918 - 1580863;6480464 11823430;12477932;12610148;14702039;14718166;15489334;16207705;16964243;17314511;17353931;17609381;18654987;19410544;19615732;19738201;19788888;19946888;20805509;20953179;21139048;21145461;21252943;21832049;21906983;21963094;21965294;21987572;22072767;22190034;22407294;22505724;22586326;22863883;22939629;23181366;23667531;23956138;24457600;24583282;24654937;24816145 79711 B3KT38;H0YK93;H0YKG5;H0YL92;H0YLV0;H0YMR4;H0YN07;H0YN14;Q8TEX9 AB208897;ABBA01061336;AF411122;AK026991;AK027871;AK056527;AK056702;AK057044;AK057277;AK074743;AK094107;AK094897;AK095306;AK302097;AK314305;AL136295;AMYH02028880;BC003690;BC110804;BC136759;BC144399;BC144400;BF001674;BG333193;BX248267;CH471078;CR457367;NM_024658;NR_051979 AAH03690;AAI10805;AAI36760;AAL78660;BAB15616;BAB55421;BAC11174;BAD92134;BAG51791;BAG51851;BAG51895;BAG52816;BAG52950;BAG53025;BAG63479;CAD62595;CAG33648;EAW66078;EAW66079;EAW66080;EAW66081;EAW66082;EAW66083;EAW66084;EAW66085;EAW66086;EAW66087;EAW66088;NP_078934;Q8TEX9 Hs.411865 1652825;1684706;1693476;1849770;2109971;2117292;2137425;2191037 A002A41;D14S689E;MARC_13707-13708:1002916366:1;RH44766;RH47154;RH70732;SHGC-57971;TM9SF1_9135 FLJ23338;Imp4;MGC131665;imp4b;ranBP4 OTTHUMP00000027981;importin-4;importin-4b;ran-binding protein 4 protein-coding ENSG00000196497 HGNC:19426 07022 VALIDATED 8548136 IPO5P1 importin 5 pseudogene 1 19 19 19 p12 23269387 23288562 - 23437855 23457053 - 23255053 23274251 - 12477932;14702039;16344560 100132815 ABBA01051428;ABBA01051429;AC092329;AK023040;AK056739;AK056856;AMYH02035836;AMYH02035837;BC065573;CH471106;DA183233;DA185451;DA510220;DA723810;NR_103741;NR_103742 BAB71269;EAW84937 Hs.629249 pseudo HGNC:49687 VALIDATED 731328 IP6K2 inositol hexakisphosphate kinase 2 This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 48681373 48710646 - 48725436 48754711 - 48688003 48717278 - 1302730;6480464 10574768 10827188;11337497;11502751;11896621;12477932;14702039;15146197;15342556;15489334;15533939;16189514;16344560;16712791;16999686;17379600;18029348;18195352;21078964;21139048;21262846;21906983;21963094;22446964;22505724;23128233;23322705;24250222;8619474;8889548;9110174;9776982 51447 B2RCP4;C9J124;C9J3W9;C9J536;C9J790;C9J8W6;C9JGK2;C9JHV2;C9JHX0;C9JLG7;C9JMC9;C9JRM0;C9JU99;F8WDQ5;Q9UHH9 ABBA01024639;ABBA01024640;ABBA01024641;AC141002;AF177145;AK024045;AK097016;AK290526;AK291501;AK304714;AK315204;AL117458;AL137514;AMYH02006724;AMYH02006725;AY007091;BC001864;BC004469;BC019694;BC065533;BP262706;BX537544;CA488567;CB144374;CD248129;CF139656;CH471055;CN362780;CS072426;DA083858;DB039955;NM_001005909;NM_001005910;NM_001005911;NM_001146178;NM_001146179;NM_001190316;NM_001190317;NM_016291;NR_027437;NR_027438;XM_006713199;XM_006713200;XM_006713201;XM_006713202 AAF15057;AAG01984;AAH04469;AAH19694;AAH65533;ABM82707;ABM85891;BAF83215;BAF84190;BAG37641;BAG51257;BAG65478;CAB55936;CAB70780;CAI93564;EAW64920;EAW64921;EAW64922;EAW64923;EAW64924;NP_001005909;NP_001005910;NP_001005911;NP_001139650;NP_001139651;NP_001177245;NP_001177246;NP_057375;Q9UHH9;XP_006713262;XP_006713263;XP_006713264;XP_006713265 Hs.595983 1654906;1775855;2167207;5126943 RH46444;SGC44337;SHGC-76927;STS-D29606 IHPK2;PiUS ATP:1D-myo-inositol-hexakisphosphate phosphotransferase;OTTHUMP00000164824;OTTHUMP00000210210;OTTHUMP00000210211;OTTHUMP00000210215;OTTHUMP00000210229;OTTHUMP00000210234;inositol hexaphosphate kinase 2;insp6 kinase 2;pi uptake stimulator APPROVED protein-coding ENSG00000068745 HGNC:17313 07380 606992 REVIEWED 731320 IPO13 importin 13 This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009] 1 1 1 p34.1 42696011 42717227 + 44412478 44433694 + 43946806 43968022 + 1580863;6480464 10745026;11447110;12477932;12600309;14702039;15143176;15489334;15964792;16189514;16809634;17314511;17652081;17828378;19218565;19593795;19619331;20379614;21139563;21804459;21890473;21988832;22648251;22939629;23435562;23559854;23620300;23956138;24722188;9872452 9670 O94829;Q5T4X2 AB018267;ABBA01050936;AF267987;AK023441;AK091565;AK290173;AL117501;AL357079;AMYH02000910;BC002608;BC008194;BX116797;CH471059;NM_014652;XM_003846624 AAF73471;AAH02608;AAH08194;ADZ15650;BAA34444;BAB14575;BAF82862;BAG52382;CAB55966;EAX07072;EAX07073;NP_055467;O94829;XP_003846672 Hs.158497 1662251;1680619;1695000;1730267;1761635;1788604;2124550;2163439;2191321;7184711;7187617 D1S280E;G44713;HSCZOA042;MARC4093-4094;MARC_17364-17365:1033586704:3;RH67811;SHGC-145624;SHGC-36789;SHGC-74711 IMP13;KAP13;KIAA0724;LGL2;RANBP13 OTTHUMP00000010010;Ran binding protein 13;importin-13;karyopherin 13;karyopherin-13;late gestation lung 2;ran-binding protein 13 APPROVED protein-coding ENSG00000117408 HGNC:16853 13742 610411 REVIEWED 1322430 IPO11 importin 11 Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008] 5 5 5 q12.1 58704531 58921350 + 61699522 61924416 + 62412746 62628589 + 6480464;8554872 11032817;11809816;12477932;12975309;14702039;15489334;15545318;16189514;16344560;17110338;17353931;17643375;19725029;20379614;21139048;21383067;21890473;21906983;21963094;21965294;22268729;22797925;22863883;22939629;23000965;23216389;23956138;24250222;24255178;24816145 51194 D6RCN7;D6RCQ2;D6RJB1;E7EMB7;F8WBN4;F8WDV0;H0Y8M5;Q9UI26 ABBA01048359;ABBA01048360;ABBA01048361;ABBA01048362;ABBA01048363;ABBA01048364;ABBA01048365;AC008859;AC016637;AC114982;AF111109;AK001696;AK023177;AK124969;AK302781;AL162083;AL705962;AMYH02011387;AMYH02011388;AMYH02011389;AMYH02011390;AMYH02011391;AMYH02011392;AMYH02011393;AMYH02011394;BC031694;BC033776;BC043163;BM966917;CH471137;DA473424;FJ695194;NM_001134779;NM_016338 AAF21936;AAH31694;AAH33776;ABM85459;ABW03725;BAA91843;BAG51165;BAG63985;CAB82416;EAW51379;EAW51380;EAW51381;NP_001128251;NP_057422;Q9UI26 Hs.482269 1341176;1689328;1853228;2109861;2172574;2172576;2187292;5109637 A005N42;D19S417;D5S1601E;D5S1843;G20364;RH65770;SLRN__6857;STS-R09551 RanBP11;imp11 OTTHUMP00000205605;OTTHUMP00000205606;OTTHUMP00000205607;Ran binding protein 11;importin-11;ran-binding protein 11 APPROVED protein-coding ENSG00000086200 HGNC:20628 10003;18066 610889 VALIDATED 5130648 IPO7P1 importin 7 pseudogene 1 X X X p11.22 56065680 56066200 + 51664960 51665480 - 51921864 51922384 - 100129708 ABBA01059951;AL929410;AMYH02039375;NG_022600 1846745 D22S1554 pseudo HGNC:39837 INFERRED 5132811 IPO8P1 importin 8 pseudogene 1 1 1 1 184259101 184262206 - 211032519 211035625 - 210859177 210862283 - 100418819 ABBA01048196;AC099755;AMYH02002613;NG_027038;NG_029777 pseudo HGNC:41955 INFERRED 1603404 IPCEF1 interaction protein for cytohesin exchange factors 1 ENCODES a protein that exhibits peroxidase activity (ortholog); INVOLVED IN oxidation-reduction process (ortholog); response to oxidative stress (ortholog); FOUND IN cytosol (inferred); plasma membrane (inferred); INTERACTS WITH 1-chloro-2,4-dinitrobenzene; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; atrazine 6 6 6 q25.2 155210000 155412269 - 154475618 154677900 - 154154483 154356766 - 6480464 11320098;11804589;11919282;12477932;12920129;14702039;17067457;19756519;19913121;20016009;20379614;20628086;22085542;24292274;9455477 26034 E5RGB6;E5RGN6;E5RJQ7;E5RK08;G3V132;Q8WWN9 AB007863;ABBA01025595;ABBA01025596;ABBA01025597;ABBA01025598;ABBA01025599;ABBA01025600;AJ310566;AK093997;AK289917;AL033376;AL132774;AL445220;AMYH02014759;AMYH02014760;AMYH02014761;AMYH02014762;AX394533;BC105015;BC105043;BC143623;BC143629;BU075081;BX647254;CH471051;KF510943;NM_001130699;NM_001130700;NM_015553;XM_005266919;XM_005266920;XM_005266921;XM_005266922;XM_005266923 AAI05016;AAI05044;AAI43624;AAI43630;BAA23699;BAF82606;CAC83949;CAD32034;CAI46054;EAW47701;EAW47702;NP_001124171;NP_001124172;NP_056368;Q8WWN9;XP_005266976;XP_005266977;XP_005266978;XP_005266979;XP_005266980 Hs.146100 1339825;1655419;1657499;1662140;1726349;1768179;1786088;5022578 D1S1423;D6S2185;D6S425;G62475;RH46629;SHGC-156272;WI-17899;WI-20576 KIAA0403;PIP3-E;RP3-402L9.2 OTTHUMP00000017465;OTTHUMP00000225057;OTTHUMP00000225058;OTTHUMP00000225059;interaction protein for cytohesin exchange factors 1 Interaction protein for cytohesin exchange factors 1;interactor protein for cytohesin exchange factors 1;phosphoinositide binding protein PIP3-E;phosphoinositide-binding protein PIP3-E protein-coding ENSG00000074706 HGNC:21204 17851 VALIDATED 6480851 IPO9-AS1 IPO9 antisense RNA 1 1 q32.1 201688256 201829559 - 100873949 ABBA01027523;ABBA01027524;ABBA01027525;ABBA01027526;ABBA01027527;ABBA01027528;ABBA01027529;ABBA01027530;AI990057;AL645504;AMYH02002480;AMYH02002481;AMYH02002482;AMYH02002483;HG493073;NR_046696 Hs.604842 RP11-90L20.3 APPROVED ncrna ENSG00000231871 HGNC:40892 VALIDATED 1321497 IPO9 importin 9 ENCODES a protein that exhibits protein transporter activity; histone binding (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; membrane; INTERACTS WITH atrazine; calcitriol; cobalt dichloride 1 1 1 q32.1 174922106 174977247 + 201798288 201853422 + 201829160 201884294 + 1580863;6480464;8554872 10574461;11042152;11493596;11823430;12477932;12670497;14702039;15282309;15489334;16344560;17110338;17148452;17314511;17643375;19615732;19946888;21139048;21832049;21890473;21906983;22190034;22863883;22939629;22990118;23181366;23402259;23851686;23862649;23956138;24250222;24816145;8619474;9110174 55705 Q5SVH5;Q96P70 AB033018;ABBA01027523;AF070633;AF161391;AF410465;AK001264;AK027532;AK055940;AK074740;AK094276;AK124260;AL513217;AL645504;AL833476;AL834323;AMYH02002483;BC003604;CH471067;DA861528;DB232332;JB776328;NM_018085;XM_006711440 AAF28951;AAH03604;AAI56332;AAL01416;BAA86506;BAA91588;BAB55181;BAC11173;CAD38991;CDI44530;EAW91375;EAW91376;EAW91377;NP_060555;Q96P70;XP_006711503 Hs.596014 1660976;1664495;1665462;1689221;1853406;2133038;2145585;2175231;2186597;5015619;5022450;5022578;5024761;5037552 A007H20;D10S275;D11S3114;D1S1423;D8S2279;RH36905;RH45243;SHGC-76126;SHGC-76137;SHGC-76138;SHGC-76151;SHGC-76154;SHGC-76155;WI-14888 DKFZp761M1547;FLJ10402;Imp9;ranBP9 OTTHUMP00000033949;importin-9;ran-binding protein 9 protein-coding ENSG00000198700 HGNC:19425 17154 VALIDATED 1603712 IPO5 importin 5 Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008] 13 13 13 q32.2 79453341 79523964 + 98605914 98676550 + 97953675 98024296 + 6480464;8554872 10228156;10366569;10525473;10772949;10799599;10822175;10860744;10888652;10944119;11035935;11278458;11389849;11682607;11751052;11991713;12368302;12414950;12477932;12614157;12620808;12783858;12861017;14702039;15034937;15282309;15364420;15489334;15507604;15758953;15964792;16196087;1631159;16644122;16704975;17005651;17043677;17081983;17110338;17143267;17148452;17458142;17500061;17643375;18295457;18445273;18455505;18562802;19275582;19394292;19471022;19581934;19615732;19738201;19946888;20015032;20360068;20542336;20562859;20828572;21044950;21139048;21145461;21252943;21326825;21562121;21825151;21890473;21963094;21987572;21988832;22053931;22190735;22268729;22505724;22509482;22586326;22623428;22863883;22939629;22963397;23000965;23022380;23125841;23181366;23266416;23402259;23667531;23752268;23956138;24196961;24337577;24816145;8105392;8125298;8889548;9114010;9271386;9275210;9366553;9405152;9430704;9436978;9463369;9562972;9582382;9621063;9687515;9817747;9891055 3843 B3KWG6;B4E0R6;C9J583;C9J875;C9JMV5;C9JQT6;C9JXE0;C9JZ53;C9JZD8;E7EQT5;E7ESA1;E7ESZ1;E7ETV3;E7ETV8;E7EV12;E7EWK4;E7EX05;F8WF30;H0Y3V4;H0Y8C6;O00410;Q9BVS9 ABBA01027154;ABBA01027155;ABBA01027156;AF339834;AK125031;AK225286;AK302812;AK303494;AL137120;AL356580;AL705630;AMYH02028556;AMYH02028557;BC000947;BC001497;BC019309;BC045640;BM666295;BU618294;BX648222;CH471085;NM_002271;U72761;XM_005254049;XM_005254052;XM_005254053;Y08890 AAC51317;AAH00947;AAH01497;AAH19309;AAH45640;ABM83959;ABW03556;BAG54128;BAG64012;BAG64528;CAA70103;EAX08977;EAX08978;EAX08979;EAX08980;EAX08981;NP_002262;O00410;XP_005254106;XP_005254109;XP_005254110 Hs.712598 1663906;1677050;1706828;1708612;1736344;1796234;1850165;2144278;2152834;5014051;5015619;5016478;5022200;5037552 D11S3114;D13S853E;D8S2278;D8S2279;GDB:434012;KPNB3_1159;L18426;RH15609;RH44720;SGC33733;SHGC-80892;SHGC-85098;STS-D29365;STS-N89596 DKFZp686O1576;FLJ43041;IMB3;KPNB3;MGC2068;Pse1;RANBP5;imp5 OTTHUMP00000018583;OTTHUMP00000018584;OTTHUMP00000214877;OTTHUMP00000214878;RAN binding protein 5;Ran_GTP binding protein 5;importin beta-3 subunit;importin subunit beta-3;importin-5;karyopherin (importin) beta 3;karyopherin beta-3;ran-binding protein 5 APPROVED protein-coding ENSG00000065150 HGNC:6402 03597 602008 REVIEWED 1321989 IPO7 importin 7 The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran's GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 9527846 9591349 + 9406169 9469674 + 9384622 9448127 + 1580863;6480464 10209022;10228156;10944119;11024021;11682607;12080050;12477932;12665801;12853482;15282309;15489334;15592455;15964792;16196087;16344560;16704975;17020411;17110338;17314511;17360709;17848547;18003734;18029348;18519565;18781797;19193229;19435463;19471022;19609347;19615732;19788888;19946888;20085707;20473970;20719241;21139048;21252943;21319273;21419860;21825151;21890473;21906983;21963094;21987572;22053931;22174317;22268729;22284678;22509482;22586326;22863883;22939629;23000965;23067392;23125841;23181366;23349634;23439083;23667531;23956138;24100013;24457600;25027693;8889548;9214382;9687515 10527 B3KNG9;E9PLB2;E9PLJ0;O95373 ABBA01061179;ABBA01061180;ABBA01061181;ABBA01061182;ABBA01061183;ABBA01061184;ABBA01061185;ABBA01061186;AC055845;AC132192;AF098799;AJ295844;AK027487;AK027892;AK074908;AK312885;AL117596;AL137335;AMYH02024312;AMYH02024313;AMYH02024314;AMYH02024315;AMYH02024316;AMYH02024317;BC114929;BM980653;BX342418;CH471064;DA780921;NM_006391 AAC68903;AAI14930;BAG35733;BAG51331;BAG51391;BAG52028;CAB70698;CAC17609;EAW68591;EAW68592;EAW68593;NP_006382;O95373 Hs.744911 1647852;1678721;1691336;1707788;1744279;2171131;2176848;2191359;5015397 G27408;GDB:451541;IB3562;MARC_17859-17860:1025012152:3;RH40012;RH69452;SHGC-31060;SHGC-36072;SHGC-82116 FLJ14581;Imp7;MGC138673;RANBP7 OTTHUMP00000230867;RAN-binding protein 7;importin-7 APPROVED protein-coding ENSG00000205339 HGNC:9852 09280 605586 REVIEWED 6481012 IPPKP1 inositol 1,3,4,5,6-pentakisphosphate 2-kinase pseudogene 1 13 13 21677142 21678510 - 21103003 21104371 - 100874419 ABBA01068598;AL161613;AMYH02027656;NG_032283 pseudo HGNC:39390 INFERRED 5130650 IPO7P2 importin 7 pseudogene 2 13 13 13 q12.12 5757385 5760175 - 24695163 24697953 - 24121024 24123814 - 100128337 ABBA01007886;AL139324;AMYH02027701;NG_011413 1691336;1744279 GDB:451541;RH40012 pseudo HGNC:39838 INFERRED 1349054 IQCA1 IQ motif containing with AAA domain 1 The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 2 2 2 q37.3 230945804 231128787 - 237232790 237416178 - 236324147 236507535 - 737633;6480464 12477932 14702039;15489334;15815621;18466635;18854154;20339536;21139048;23427265;8125298 79781 B4DIF4;E7ERI2;H7BZR5;Q86XH1 ABBA01042572;ABBA01042573;ABBA01042574;AC019068;AC079611;AC093915;AK026180;AK054711;AK090907;AK225433;AK294105;AK295566;AMYH02006054;AW450570;BC008085;BC018494;BC028699;BC043504;BX117697;CD688750;CH471063;HY127810;NM_001270584;NM_001270585;NM_024726;NR_073043 AAH28699;AAH43504;AAX93085;AAX93149;AAY24064;BAB15384;BAB70798;BAG57440;BAG58466;EAW71087;EAW71088;EAW71089;EAW71090;EAW71091;NP_001257513;NP_001257514;NP_079002;Q86XH1 Hs.591594;Hs.621320;Hs.711488 1338037;1760433;1775476 D2S338;G16443;SHGC-142666 4930465P12Rik;DRC11;FLJ22527;FLJ33588;IQCA IQ and AAA domain-containing protein 1;OTTHUMP00000203007;OTTHUMP00000203008;dynein regulatory complex subunit 11 APPROVED protein-coding ENSG00000132321 HGNC:26195 13743 REVIEWED 1320759 IQCB1 IQ motif containing B1 This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 3 3 3 q13.33 119898471 119963801 - 121488608 121553926 - 121769763 121835079 - 1580863;6480464;7240710;8554872;8699517 12244321;12477932;15489334;15661758;15723066;15723349;16322217;18723859;19118152;19322201;20301475;20301743;20881296;21068128;21139048;21220633;21245082;21565611;21857984;21890473;21901789;21903422;21906983;22183348;23382074;23383273;23446637;23752268;7584026;7584028;8889548 9657 C9J6Z7;C9JVC4;C9JXD7;Q15051 AB062481;ABBA01016476;ABBA01016477;AC119736;AL042102;AMYH02007533;AY714228;AY964667;AY964668;BC005806;BG721354;BM682018;BQ068103;BX393165;CH471052;D25278;NG_015887;NM_001023570;NM_001023571;XM_005247911;XM_005247912;XM_005247913 AAH05806;AAW47233;AAY46029;AAY46030;BAA04968;BAB93506;EAW79499;EAW79500;EAW79501;NP_001018864;NP_001018865;Q15051;XP_005247968;XP_005247969;XP_005247970 Hs.604110 1653768;1774541;2109439;2128690;2147741;5109306 D3S2334;D6S2310;IQCB1_8973;RH25274;SHGC-77249;WI-9285 NPHP5;PIQ;SLSN5 IQ calmodulin-binding motif containing 1;IQ calmodulin-binding motif-containing protein 1;OTTHUMP00000158861;OTTHUMP00000214823;nephrocystin 5;p53 and DNA damage-regulated IQ motif protein APPROVED protein-coding ENSG00000173226 HGNC:28949 11049 609237;609254 REVIEWED 2303439 IQCA1P1 IQ motif containing with AAA domain 1 pseudogene 1 ENCODES a protein that exhibits ATP binding (inferred) 7 7 7 q36.1 145445301 145459925 - 150887960 150892611 - 151196471 151197222 - 11181995;12690205;12853948 392843 A6NCM1 AACC02000108;ABBA01035161;AC010973;AC021097;AMYH02017071;CH471173;DY654655;HM370405;XR_426269;XR_428269;XR_432256 A6NCM1;ADM86751;EAL24505;EAL24506;EAW54019 Hs.649589 1762291 SHGC-146141 IQCA1L;TCAG_9762 APPROVED pseudo HGNC:22831 MODEL 1343299 IQCB2P IQ motif containing B2 pseudogene 6 6 6 p22.1 29584371 29586722 + 27978329 27980680 + 28010551 28012902 + 340192 ABBA01038012;AL121944;AMYH02013391;NG_005320 1653768;2127669;2128690 D6S2310;D6S2311;RH25274 IQCB1P1;dJ313I6.1 pseudo HGNC:17727 INFERRED 1342539 IPW imprinted in Prader-Willi syndrome (non-protein coding) This gene is non-protein coding, is expressed exclusively from the paternal allele, and may play a role in the imprinting process. Mutations in this gene are associated with Prader-Willi syndrome. [provided by RefSeq, May 2010] 15 15 15 q11.2 3523661 3529588 + 25360745 25367623 + 25116545 25122476 + 6480464 15146197;20301505;7849716;9601023 3653 ABBA01048690;AC124303;AMYH02030094;CN332356;NG_002690;NG_021193;NR_023915;U12897 Hs.555970;Hs.731866 1651412;1671956;1694906;1722397;1733648;1744157;1771047;1787840;2114727;2142972 A003A06;D15S618E;D15S903;G44340;G60271;GDB:424492;SHGC-132610;SHGC-36523;STS-H93310;STS-N21972 NCRNA00002 APPROVED ncrna HGNC:6109 601491 REVIEWED 1314841 IPP intracisternal A particle-promoted polypeptide The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p34-p32 44443977 44504167 - 46159996 46216485 - 45694324 45750813 - 1580863;6480464 10072760;11536049;12477932;14702039;15522220;16344560;1905535;1906605;21145461;21890473;21906983;22990118;23676014;24250222;8432546 3652 Q9Y573 ABBA01050855;ABBA01050856;ABBA01050857;ABBA01050858;ABBA01050859;AF156857;AK023880;AL604028;AMYH02000937;AMYH02000938;AMYH02000939;AMYH02000940;BC032544;BX664740;CH471059;CR589949;DA905423;NM_001145349;NM_005897;XM_005270839;XM_005270840;XM_006710622;XM_006710623 AAD39007;AAH32544;BAG51233;EAX06950;EAX06951;EAX06952;NP_001138821;NP_005888;Q9Y573;XP_005270896;XP_005270897;XP_006710685;XP_006710686 Hs.744252 1678501;1686893;1764111;2107229 IPP__7436;RH45806;RH65107;SHGC-147761 KLHL27 OTTHUMP00000009696;OTTHUMP00000038611;actin-binding protein IPP;kelch-like family member 27;kelch-like protein 27 APPROVED protein-coding ENSG00000197429 HGNC:6108 00940 147485 REVIEWED 1343350 IPO8 importin 8 The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 12 12 12 p11.21 35924748 35991765 - 30781915 30848929 - 30628981 30695995 - 1580863;6480464 10737800;11682607;12477932;16344560;16713569;17903295;17932509;18519565;19014639;19167051;20360068;20462248;20562864;21139048;21145461;21890473;21906983;23906023;23956138;24816145;9214382 10526 F5GXT5;F5H009;F5H244;F5H292;F5H2I3;F5H815;H0YH64;O15397 AA620453;AB209602;ABBA01068089;AC012673;AC023426;AK000201;AK025607;AK130090;AK302260;AMYH02026269;AU132276;BF947771;BG574795;BQ435282;BX953637;CH471094;DB067822;DB072643;DB088518;DC400226;EB387074;NM_001190995;NM_006390;U77494 AAB67052;AAI67853;BAD92839;BAH13659;EAW96607;NP_001177924;NP_006381;O15397 Hs.505136 1648694;1667579;1671823;1680964;1725935;1731835;1736298 A006S05;Cda19e03;D12F92S2;D12S1242E;G62332;RH69811;SGC31987 FLJ21954;FLJ26580;RANBP8;imp8 OTTHUMP00000240305;OTTHUMP00000240306;RAN binding protein 8;importin-8;ran-binding protein 8 APPROVED protein-coding ENSG00000133704 HGNC:9853 09282 605600 REVIEWED 1346446 IQCD IQ motif containing D INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; all-trans-retinoic acid; copper(2+) sulfate 12 12 12 q24.13 113260070 113285703 - 113633246 113659086 - 113195441 113221280 - 737633;1580863;6480464 12477932 14702039;15489334;16541075;16751776;17207965;23427265;24804578 115811 F8VZV9;Q96DY2 ABBA01019949;AC089999;AK127152;AMYH02027236;AMYH02027237;BC013151;CH471054;DQ571611;NM_138451;XM_005253832;XM_005253833;XM_005253834;XM_006719225 AAH13151;ADQ31666;BAC86856;EAW98043;EAW98044;EAW98045;NP_612460;Q96DY2;XP_005253889;XP_005253890;XP_005253891;XP_006719288 Hs.568276 1850136;5022578 D1S1423;G12121 4933433C09Rik;CFAP84;DRC10 IQ domain-containing protein D;OTTHUMP00000241824;dynein regulatory complex subunit 10 protein-coding ENSG00000166578 HGNC:25168 13744 VALIDATED 1343946 IQCC IQ motif containing C INTERACTS WITH aflatoxin B1; atrazine; copper(2+) sulfate 1 1 1 p36.11-p34.2 30941138 30944190 + 32671236 32674288 + 32205635 32208687 + 6480464 12477932;14702039;15489334;16344560;16710414;24250222;8125298 55721 Q4KMZ1 ABBA01023437;AK001409;AK223272;AK299235;AK307853;AL049795;AMYH02000705;BC029986;BC098250;BC098260;BC098317;BC098366;CH471059;DA746781;DB324323;NM_001160042;NM_018134 AAH98250;AAH98260;AAH98317;AAH98366;BAA91674;BAD96992;BAG61267;EAX07562;NP_001153514;NP_060604;Q4KMZ1 Hs.274356 FLJ10547;MGC120341;RP4-622L5.6 IQ domain-containing protein C;OTTHUMP00000006377 protein-coding ENSG00000160051 HGNC:25545 07683 VALIDATED 1322638 IPPK inositol 1,3,4,5,6-pentakisphosphate 2-kinase The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010] 9 9 9 q22.31 65817524 65874595 - 95375466 95432547 - 92613184 92670265 - 6480464;6907045;8554872 12084730;12477932;14702039;15164053;15489334;15967797;15979280;20881960;21906983;22939629;24165122 64768 Q9H8X2;X6R9A6 ABBA01018591;ABBA01018592;AF351200;AF351201;AF351202;AF520811;AK023225;AK024267;AK096392;AK123694;AL137074;AL157827;AMYH02021223;AX882719;BC026154;CH471089;NG_027879;NM_022755;XM_006717235 AAH26154;AAK69692;AAM75353;BAB14476;BAB14866;BAG53939;CAE91701;EAW62826;NP_073592;Q9H8X2;XP_006717298 Hs.459896;Hs.713775 1655081;1667392;1771340;1773086;1850601;1854718 RH16579;RH65517;SHGC-33544;STS-AA011570;WI-11467;WI-14229 C9orf12;FLJ13163;INSP5K2;IP5K;IPK1;KIAA0699;bA476B13.1 1,3,4,5,6-pentakisphosphate 2-kinase;IPK1 homolog;OTTHUMP00000021662;bA476B13.1 (novel protein);chromosome 9 open reading frame 12;inositol-1,3,4,5,6-pentakisphosphate 2-kinase;inositol-pentakisphosphate 2-kinase;ins(1,3,4,5,6)P5 2-kinase;insP5 2-kinase APPROVED protein-coding ENSG00000127080 HGNC:14645 10799 REVIEWED 1350039 IQCF2 IQ motif containing F2 3 3 3 p21.2 51874527 51876324 + 51895645 51897440 + 51861629 51863424 + 6480464 12477932;14702039;15489334;17207965 389123 Q8IXL9 ABBA01024519;AC097636;AK128883;AMYH02006794;BC040047;CH471055;HC007050;NM_203424 AAH40047;ADQ33076;CBH19330;EAW65156;NP_982248;Q8IXL9 Hs.412294 1681897 RH92162 MGC50809 IQ domain-containing protein F2;OTTHUMP00000211012 protein-coding ENSG00000184345 HGNC:31815 13745 VALIDATED 1353537 IQCF3 IQ motif containing F3 INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); Aroclor 1254 (ortholog) 3 3 3 p21.2 51841449 51843756 + 51860899 51864874 + 51826883 51830858 + 6480464 12477932;14702039 401067 F2Z334;P0C7M6 AA991812;ABBA01024520;AC097636;AMYH02006794;BC021188;BC146874;BC146889;BC171811;BC171818;CH471055;HC007052;NM_001085479;NM_001207023 AAI46875;AAI46890;AAI71811;AAI71818;CBH19331;EAW65154;NP_001078948;NP_001193952;P0C7M6 Hs.729443 1685490 RH98393 IQ domain-containing protein F3;OTTHUMP00000210997;OTTHUMP00000210998;OTTHUMP00000210999;OTTHUMP00000211000 protein-coding ENSG00000229972 HGNC:31816 VALIDATED 2303477 IQCF5 IQ motif containing F5 INTERACTS WITH benzo[a]pyrene; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 p21.2 51886603 51888467 - 51907737 51909600 - 51873721 51875584 - 6480464 16641997;24529757 389124 A8MTL0 ABBA01024519;AC097636;AMYH02006794;AW138546;BX106781;HC044653;NM_001145059 A8MTL0;CBH30656;NP_001138531 Hs.666604 1337098 D3S3026 IQ domain-containing protein F5;OTTHUMP00000211011 protein-coding ENSG00000214681 HGNC:35159 VALIDATED 1348129 IQCF1 IQ motif containing F1 INTERACTS WITH quercetin; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 p21.2 51907728 51916218 - 51928892 51937386 - 51894876 51903370 - 737633;6480464 12477932 15489334;17207965 132141 F8WEK8;Q8N6M8 ABBA01024519;AC097636;AK131018;AMYH02006794;BC029595;BC034228;CH471055;NM_152397;XM_005264877 AAH29595;AAH34228;ADQ32688;EAW65158;NP_689610;Q8N6M8;XP_005264934 Hs.671210 FLJ27508;MGC39725 IQ domain-containing protein F1;OTTHUMP00000210995 protein-coding ENSG00000173389 HGNC:28607 17155 VALIDATED 1345008 IQCG IQ motif containing G ASSOCIATED WITH Diamond-Blackfan Anemia 5 (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; lead(0); lead(2+) 3 3 3 q29 196231726 196303039 - 197615946 197686982 - 197889075 197960015 - 737633;6480464;8554872 12477932 11230166;14702039;15489334;16169070;16344560;19056867;21900206;23427265;24362311 84223 C9J6M9;C9JKX8;C9JUC1;Q9H095;Q9H5C8 ABBA01007559;ABBA01007560;ABBA01007561;AC135893;AI564330;AK021729;AK027224;AK095094;AL136889;AMYH02008525;AMYH02008526;AMYH02008527;AX878642;BC004816;BC016156;BC068973;BC136253;CD692782;CH471252;CR533515;DA358032;DA566107;NG_033072;NM_001134435;NM_032263;XM_006713784;XM_006713785 AAH04816;AAI36254;ACE86580;ACE87265;BAB13881;BAB15699;CAB66823;CAE90206;CAG38546;EAW92246;EAW92247;NP_001127907;NP_115639;Q9H095;XP_006713847;XP_006713848 Hs.591675 1654311;1679978;1681135;2116513;5094793 MFD427-AAA;RH93014;RH99143;SHGC-52923;STS-W74751 CFAP122;DKFZp434B227;DRC9;FLJ11667;FLJ23571;FLJ37775 IQ domain-containing protein G;OTTHUMP00000207849;OTTHUMP00000207850;dynein regulatory complex subunit 9 protein-coding ENSG00000114473 HGNC:25251 13746 612477 VALIDATED 7775625 IQCF5-AS1 IQCF5 antisense RNA 1 3 3 p21.2 51907612 51909783 + 51873596 51875767 + 14702039 101928999 ABBA01024519;AC097636;AK097471;AMYH02006794;HG495681;NR_109984 BAC05066 RP11-314A5.5 ncrna ENSG00000235455 HGNC:41297 VALIDATED 2302686 IQCF6 IQ motif containing F6 3 3 3 p21.2 51791455 51791887 - 51812577 51813256 - 51778561 51779240 - 440956 A8MYZ5 ABBA01024520;AC099050;AMYH02006794;BX093815;CH471055;NM_001143833;XM_005265168 A8MYZ5;EAW65151;NP_001137305;XP_005265225 Hs.444316 IQ domain-containing protein F6 protein-coding ENSG00000214686 HGNC:35158 VALIDATED 6480905 IQCJ-SCHIP1-AS1 IQCJ-SCHIP1 readthrough antisense RNA 1 q25.33 100874433 AA758952;AA884266;AC021654;NR_121669 Hs.601476;Hs.733843 uaz98 APPROVED ncrna HGNC:41303 VALIDATED 5013858 IQCJ-SCHIP1 IQCJ-SCHIP1 readthrough This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010] 3 3 158787041 159615155 + 159069252 159897366 + 6480464;8554872 14702039;17045569;18550753;19197348;20967262 100505385 B3KU38;C9J366;C9J615;C9J630;C9JMW4;C9JVF1;C9JXR1;C9K0A8;H7C4Z1;Q9P0W5 ABBA01058802;ABBA01058803;ABBA01058804;ABBA01058805;ABBA01058806;ABBA01058807;ABBA01058808;AC021654;AC063955;AC068770;AC092861;AC092943;AC092997;AC107312;AC131150;AK096479;AMYH02008003;AMYH02008004;AMYH02008005;AMYH02008006;AMYH02008007;AMYH02008008;AMYH02008009;AMYH02008010;AMYH02008011;AMYH02008012;AMYH02008013;DQ157847;DQ157848;NM_001197113;NM_001197114 ABA42889;ABA42890;BAG53300;NP_001184042;NP_001184043 Hs.134665 1646649;1646651;1689175;2190533;5017789 A005Y17;EST19B11;G20592;RH80343;SCHIP1 FLJ39160 IQ motif containing J-schwannomin interacting protein 1 fusion protein;IQ motif containing J-schwannomin interacting protein 1 read-through transcript;OTTHUMP00000221995;OTTHUMP00000221996 APPROVED protein-coding ENSG00000250588 HGNC:38842 REVIEWED 1605141 IQCJ IQ motif containing J ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1 (ortholog) 3 3 3 q25.32 157209821 157405246 + 158787041 158984096 + 159069252 159266307 + 6480464;8554872 12477932;14702039;16344560;17045569;18550753;22118674 654502 Q1A5X6 ABBA01058806;ABBA01058807;ABBA01058808;AC092997;AC107312;AK309049;AMYH02008003;AMYH02008004;AMYH02008005;AMYH02008006;AMYH02008007;AMYH02008008;BC137464;BC137469;BC144658;CH471052;DA305468;DQ309553;DQ309554;NM_001042705;NM_001042706;NM_001197100 AAI37465;AAI37470;AAI44659;ABC26018;ABC26019;EAW78670;NP_001036170;NP_001036171;NP_001184029;Q1A5X6 Hs.570685 1785340;1785498 SHGC-112023;SHGC-153602 IQ domain-containing protein J;OTTHUMP00000213587;OTTHUMP00000213588;OTTHUMP00000213589;OTTHUMP00000213608;calmodulin binding protein protein-coding ENSG00000214216 HGNC:32406 611622 VALIDATED 6766648 IQCH-AS1 IQCH antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 15 15 15 q23 44583481 44701721 - 67695949 67814182 - 67403611 67521844 - 8554872 12477932;14702039;21102462 100506686 ABBA01038799;AC016355;AC106000;AI743092;AK124301;AL598736;AMYH02030667;AMYH02030668;AMYH02030669;AW204237;BC047537;BX093700;BX332831;CK822922;HG507148;HG507149;HG507151;KF456079;KF456080;NR_040051;NR_040052;NR_040054;NR_040055;NR_040056 Hs.656245 1661474;1675351;1682826;1705788;1764449;2138013;2161212;5014063 AFM094yc1;D15S1390;G29268;RH68445;RH79640;RH98716;SHGC-148049;SHGC-78975 RP11-502I4.1 APPROVED ncrna ENSG00000259673 HGNC:44104 VALIDATED 1604310 IQCH IQ motif containing H ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH arsenous acid; benzo[a]pyrene; bisphenol A 15 15 15 q23 44434636 44681681 + 67547138 67794142 + 67254800 67501804 + 6480464;8554872 12477932;14702039;15489334;15897968;18491143;20379614;21102462;21832049 64799 B4E2J4;D6RGG0;F8WAL8;H0YMU5;H3BMH8;H3BRL4;H3BU17;Q86VS3 ABBA01038799;ABBA01038800;ABBA01038801;ABBA01038802;ABBA01038803;ABBA01038804;AC012568;AC016355;AC106000;AC110292;AK022538;AK292478;AK304303;AL133556;AMYH02030664;AMYH02030665;AMYH02030666;AMYH02030667;AMYH02030668;AY014282;BC031041;BC039292;BC039463;BC048964;CH471082;KF456079;KF456080;NM_001031715;NM_001284347;NM_001284348;NM_001284349;NM_022784 AAH31041;AAH39292;AAH48964;AAK27307;BAB14087;BAF85167;BAG65156;CAB63711;EAW77794;EAW77795;EAW77796;EAW77797;NP_001026885;NP_001271276;NP_001271277;NP_001271278;NP_073621;Q86VS3 Hs.657894 1661474;1675351;1682826;1700424;1733666;1783252;2138013;2161212;2164096 AFM094yc1;D15S1205;D15S633E;G29268;RH103833;RH68445;RH79640;RH98716;SHGC-155024 DKFZp434F2114;FLJ12476;NYDSP5 IQ domain-containing protein H;OTTHUMP00000164307;OTTHUMP00000223606;testis development protein NYD-SP5 protein-coding ENSG00000103599 HGNC:25721 07773 612523 VALIDATED 1605300 IQCK IQ motif containing K ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2-methylcholine; aflatoxin B1; all-trans-retinoic acid 16 16 16 p12.3 18876739 19017806 + 19727778 19869087 + 19716456 19857765 + 6480464;8554872 10493829;11790298;12477932;14702039;15302935;15489334;19913121;20628086;20935630;21577200 124152 B4DXE1;B4E1V3;H3BPX0;H3BRX5;H3BU74;H3BV97;I3L193;Q8N0W5 ABBA01028265;ABBA01028266;ABBA01028267;ABBA01028268;ABBA01028269;AC002550;AC027130;AC134300;AF520569;AF520570;AK000122;AK093894;AK301933;AK303998;AK311216;AK315672;AMYH02031651;AMYH02031652;BC010515;BC034823;CH471186;NM_153208;XM_006721019;XR_243261 AAC05807;AAH10515;AAH34823;AAM77339;AAM77340;ACT64471;ACT64472;BAG38037;BAG52781;BAG63353;BAG64915;EAW50295;EAW50296;EAW50297;EAW50298;EAW50299;EAW50300;EAW50301;NP_694940;Q8N0W5;XP_006721082 Hs.460217 1342312;1647947;1674838;1708448;1735800;2178408;2182147;7184680;7185032 D16S433E;D16S749;D8S1410E;RH68919;RH69330;SHGC-85008;WI-13683 FLJ20115;FLJ36575;MGC35048 IQ domain-containing protein K;OTTHUMP00000162155 protein-coding HGNC:28556 11340 PROVISIONAL 8549383 IQSEC3P1 IQ motif and Sec7 domain 3 pseudogene 1 12 12 12 p13.33 4475398 4475932 - 2861763 2862298 - 2752597 2753132 - 100132450 ABBA01048802;AC092471;AMYH02025885;NG_021681 pseudo HGNC:49848 INFERRED 1350713 IQGAP2 IQ motif containing GTPase activating protein 2 This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008] 5 5 5 q13.3 71592826 71897903 + 75699131 76003957 + 76403255 76708132 + 1580863;6480464;8554872 11554782;12376551;12515716;12665801;14743216;15458922;15621655;16344560;17254974;17314511;17353931;17957782;18457437;19056867;19913121;20068591;20379614;20562859;20628086;20800603;20977743;21139048;21525035;21890473;21906983;22406297;22505724;23400010;24816145;8702968;8756646 10788 B7Z7U6;B7Z7X2;D6R939;D6R999;D6RDK8;D6RGC6;E7EWC2;E9PDT6;F5H7S7;H0YA28;Q13576;Q59HA3 AB208856;ABBA01061957;ABBA01061958;ABBA01061959;ABBA01061960;ABBA01061961;ABBA01061962;ABBA01061963;ABBA01061964;ABBA01061965;AC025188;AC026706;AC026725;AC093251;AC112173;AK291066;AK302510;AK302599;AK302981;AK303054;AK307555;AK307626;AK311619;AMYH02011606;AMYH02011607;AMYH02011608;AMYH02011609;AMYH02011610;AY351902;BI481276;BQ002800;CH471084;DB071610;DB075371;NM_001285460;NM_001285461;NM_001285462;NM_006633;U51903;XM_005248409;XM_005248410;XM_005248411;XM_005248413;XM_005248414;XM_006714522 AAB37765;AAQ81291;BAD92093;BAF83755;BAH13732;BAH13758;BAH13867;BAH13890;EAW95775;EAW95776;EAW95777;NP_001272389;NP_001272390;NP_001272391;NP_006624;Q13576;XP_005248466;XP_005248467;XP_005248468;XP_005248470;XP_005248471;XP_006714585 Hs.291030 1645571;1655163;1663393;1667042;1673052;1679077;1688012;1710740;1713819;1715855;1728311;1735558;1751131;1756623;1757075;1757165;1764909;1795806;2176770;2186134;2191341;2219832 D5S1678E;D5S2432;F2RL2_622;G63437;IQGAP2__6472;MARC_17727-17728:1031758304:1;RH119622;RH120796;RH45775;RH45967;RH46468;RH66695;RH70668;SHGC-104986;SHGC-143662;SHGC-144459;SHGC-144593;SHGC-148469;SHGC-57970;SHGC-83998;STS-N26732;WI-11362 OTTHUMP00000222008;OTTHUMP00000222010;OTTHUMP00000222012;OTTHUMP00000222013;ras GTPase-activating-like protein IQGAP2 APPROVED protein-coding ENSG00000145703 HGNC:6111 09253 605401 VALIDATED 1350439 IQCE IQ motif containing E ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH all-trans-retinoic acid; methyl methanesulfonate; valproic acid 7 7 7 p22.3 2567993 2623218 + 2598617 2654368 + 2558972 2614734 + 6480464;8554872 10470851;11076863;12477932;14702039;15489336;16344560;16381901;20877624;24250222;24722188;8889548 23288 B3KRY4;B4DDX4;B4DXN1;C9J5R6;C9JE72;C9JP75;H7C427;Q6IPM2;X5D7Y5 AB028946;ABBA01039382;ABBA01039383;AC073462;AC092488;AK092404;AK293372;AK302053;AK309646;AL136792;AL137525;AMYH02015078;AMYH02015079;BC043150;BC052992;BC061518;BC071858;BM681165;CH236953;CH471144;DA246430;HY029256;KJ534872;KJ534873;KJ535081;NM_001287499;NM_001287500;NM_001287501;NM_001287502;NM_152558;XM_006715676;XM_006715677;XR_242067 AAH43150;AAH61518;AAH71858;AHW56512;AHW56513;AHW56720;BAA82975;BAG52546;BAG56885;BAG63443;CAB66726;CAL37749;CAL38113;EAW87261;EAW87262;EAW87263;EAW87264;NP_001274428;NP_001274429;NP_001274430;NP_001274431;NP_689771;Q6IPM2;XP_006715739;XP_006715740 Hs.520627 1760321;1788278;2131729;2131731;2147616;5037552 A005T40;D7S3124;D8S2279;G20490;RH12206;SHGC-141251 1700028P05Rik;KIAA1023;MGC41907 IQ domain-containing protein E;OTTHUMP00000201093;OTTHUMP00000201095;OTTHUMP00000201097;OTTHUMP00000201100 protein-coding ENSG00000106012 HGNC:29171 11050 VALIDATED 1343743 IQSEC1 IQ motif and Sec7 domain 1 INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF protein signal transduction (inferred); PARTICIPATES IN endocytosis pathway; FOUND IN cell junction; intracellular membrane-bounded organelle; membrane; INTERACTS WITH 2-methylcholine; benzo[a]pyrene; copper(2+) sulfate 3 3 3 p25.2 12877006 13052894 - 12938542 13114652 - 12897043 13073117 - 6480464;6907045 11226253;12477932;15302935;15489334;16461286;16807291;17846866;18029348;18084281;19946888;20601426;20613766;21163940;21795701;21858086;21903422;21966491;22613714;22662237;22701712;22815487;23747719;24024966;24116160;24457600;24522833;24550385;24778252;24902879;8619474;9110174;9872452 9922 B4DGC5;Q6DN90 AB018306;ABBA01025186;ABBA01025187;ABBA01025188;AC018836;AC069271;AF055004;AK294525;AMYH02006302;AMYH02006303;AMYH02006304;AY653734;BC008088;BC010267;BC024645;BQ004209;CH471055;HY052708;KF495709;NM_001134382;NM_014869 AAH10267;AAT72063;ADZ15531;BAA34483;BAG57736;EAW64147;EAW64148;NP_001127854;NP_055684;Q6DN90 Hs.475506 1340290;1648738;1661088;1671605;1687307;1759603;1760745;1792262;2122729;2124696;2134185 D15S954;D3S3610;D3S3825;D3S4216;DXS9776;HSC08G032;PMC140079P3;RH66856;SHGC-144267;SHGC-150751;WI-20823 ARF-GEP100;ARFGEP100;BRAG2;GEP100;KIAA0763 ADP-ribosylation factors guanine nucleotide-exchange protein 100;ADP-ribosylation factors guanine nucleotide-exchange protein 2;IQ motif and SEC7 domain-containing protein 1;OTTHUMP00000207922;OTTHUMP00000207923;OTTHUMP00000207924;brefeldin A-resistant ARF-GEF2;brefeldin-resistant Arf-GEF 2 protein protein-coding ENSG00000144711 HGNC:29112 11052 610166 VALIDATED 1323573 IQGAP1 IQ motif containing GTPase activating protein 1 This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 67336216 67450214 + 90931473 91045475 + 90388241 90502243 + 1580863;6480464;6484113;8554872 10608854;10793131;11289714;11734550;11790459;11809768;11948177;12110184;12377780;12446675;12477932;12603848;12745076;12900413;12938160;12938929;14699063;14702039;14970219;15081409;15121898;15161933;15166316;15217908;15252131;15263019;15302935;15355962;15389538;15521075;15572120;15572129;15592455;15634346;15655247;15695813;16009940;16105843;16135787;16179592;16190873;16245300;16380380;16387427;16622255;16964243;17050673;17081983;17085436;17255093;17353931;17517894;17544257;17563371;17620407;17693642;17853893;17981797;18029348;18541705;18567582;18575779;18587628;18781797;18809683;19036171;19050761;19056867;19079338;19134119;19135240;19155310;19321438;19366706;19380743;19454477;19596686;19615732;19738201;19856315;20017185;20127691;20360068;20473970;20530982;20562859;20639865;20644981;20875083;20883816;20959410;20977743;21139048;21177863;21295032;21318219;21319273;21428964;21525035;21537845;21621326;21640080;21681737;21724847;21730051;21750196;21876773;21885850;21890473;21906983;21963094;21983832;22028615;22053931;22080369;22182509;22294699;22328503;22483753;22505724;22519731;22536838;22573807;22586326;22623428;22634185;22662192;22793650;22863883;22939629;22944912;22992742;23000965;23071436;23125841;23145020;23405264;23443559;23454766;23577172;23602568;23603816;23637409;23788642;23862649;23982733;24101133;24103286;24196961;24278215;24332808;24352566;24457600;24462863;24550401;24639526;24747073;24816145;25027693;7584044;8051149;8670801;8702968;8756646;8798539;9182573;9199170;9368021;9535855;9712880 8826 H0YKA5;H0YLE8;P46940 ABBA01053054;ABBA01053055;AC018946;AC103739;AF401205;AI924000;AK055054;AK125643;AK298000;AK304337;AK307643;AL110106;AMYH02031040;AMYH02031041;BC005906;BC016714;BC020549;BC037425;BC064971;BC089385;BC110811;BC139731;BC151834;CH471101;D29640;NM_003870;XM_005254984 AAH05906;AAH20549;AAH37425;AAH64971;AAH89385;AAI10812;AAI39732;AAI51835;AAL02166;BAA06123;BAG60306;BAG65182;EAX02102;EAX02103;NP_003861;P46940;XP_005255041 Hs.430551 1341497;1647637;1654938;1665374;1673802;1677196;1684654;1707252;1733400;1769224;1794344;1794352;2112940;2129368;2162293;2186555;5111957;5120973 D15S1082;D15S1178;D15S1312;D15S1414E;D15S544;D15S946;D15S996;G09894;G43353;PMC311040P11;PMC311040P15;RH17825;RH25287;RH44885;RH65701;RH76514;RH78456;SHGC-79221 HUMORFA01;KIAA0051;SAR1;p195 OTTHUMP00000194748;RasGAP-like with IQ motifs;ras GTPase-activating-like protein IQGAP1 APPROVED protein-coding ENSG00000140575 HGNC:6110 04541 603379 REVIEWED 1605175 IQSEC3 IQ motif and Sec7 domain 3 INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF protein signal transduction (inferred); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN inhibitory synapse (inferred); postsynaptic membrane (inferred); INTERACTS WITH paracetamol 12 12 12 p13.33 1815754 1896258 + 176049 287626 + 66883 178460 + 6480464;6907045;8554872 10470851;12477932;14702039;17981261;18029348;22566498 440073 Q9UPP2 AB029033;ABBA01048857;AC007406;AC026369;AK091953;AMYH02025847;AMYH02025848;AMYH02025849;BC024764;BC042067;CH471116;NM_001170738;NM_015232 AAH24764;BAA83062;EAW88980;EAW88981;EAW88982;EAW88983;EAW88984;NP_001164209;NP_056047;Q9UPP2 Hs.536319 1654284;1654286;1731912;1757875;1767633;1782638;1782640;1782642;2157995 D12S158;RH65403;SHGC-146749;SHGC-147316;SHGC-147461;SHGC-147908;SHGC-36815;STS-Z40079;WI-21453 KIAA1110;MGC30156 IQ motif and SEC7 domain-containing protein 3;OTTHUMP00000237526;OTTHUMP00000237527 protein-coding ENSG00000120645 HGNC:29193 612118 VALIDATED 1353175 IQSEC2 IQ motif and Sec7 domain 2 This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] X X X p11.22 57091294 57179759 - 53262058 53350522 - 53227633 53321334 - 6480464;6907045;7240710;8554872;8699517 12477932;14702039;14742722;15197169;15669143;15772651;16344560;17045249;17623647;18029348;19322201;20473311;21479374;21686261;25015289;9628581 23096 Q5JU85 AB011094;ABBA01056390;ABBA01056391;ABBA01056392;ABBA01056393;ABBA01056394;ABBA01056395;ABBA01056396;ABBA01056397;ABBA01056398;ABBA01056399;ABBA01056400;ABBA01056401;ABBA01056402;ABBA01056403;AC245102;AK095232;AL139396;AL161779;AL590123;AMYH02039461;AMYH02039462;BC038213;BC044252;BC108674;BX119489;CH471154;DA433389;FJ154890;FJ154891;FJ154892;FJ154893;NG_021296;NM_001111125;NM_001243197;NM_015075;XM_006724579;XM_006724580;XM_006724581;XM_006724582;XM_006724583;XM_006724584 AAI56684;ACR15955;ACR15956;ACR15957;ACR15958;BAA25448;BAG53009;CAI42091;EAW93147;NP_001104595;NP_001230126;NP_055890;Q5JU85;XP_006724642;XP_006724643;XP_006724644;XP_006724645;XP_006724646;XP_006724647 Hs.496138 1340728;1654210;1701768;1701786;1703150;2108797;2124900 DXS1000;DXS1384;DXS6953;G02075;IQSEC2_9304;RH35765;UniSTS:98928 BRAG1;KIAA0522;MRX1 IQ motif and SEC7 domain-containing protein 2;OTTHUMP00000023346;OTTHUMP00000023347;brefeldin A resistant Arf-guanine nucleotide exchange factor 1;brefeldin A resistant Arf-guanine nucleotide exchange factor 1b;brefeldin A resistant Arf-guanine nucleotide exchange factor 1c;mental retardation, X-linked 1 (non-dysmorphic) APPROVED protein-coding ENSG00000124313 HGNC:29059 10012 300522;309530 REVIEWED 8549326 IQSEC3P3 IQ motif and Sec7 domain 3 pseudogene 3 20 20 20 q13.33 694 1257 - 62958762 62959325 - 64327409 64327972 - 728056 ABBA01001292;AL137028;NG_021984 pseudo HGNC:49850 INFERRED 1312787 IRAK1BP1 interleukin-1 receptor-associated kinase 1 binding protein 1 INVOLVED IN I-kappaB kinase/NF-kappaB signaling (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; methyl methanesulfonate 6 6 6 q14-q15 79964472 79995608 + 79577261 79714545 + 78867544 78945457 + 6480464 11096118;12477932;14702039;15485901;17079333;24165912;8889548 134728 Q5VVH5;U3KQ00;U3KQ34;U3KQ57 ABBA01040397;ABBA01040398;ABBA01040399;AK096861;AK098678;AK309003;AL356776;AL450327;AMYH02013964;AMYH02013965;BC112253;BC112255;BX103697;CB321683;CH471051;CR990080;NM_001010844;XM_005248654;XM_005248655;XM_005248656;XM_006715336;XM_006715337;XM_006715338 AAI12254;AAI12256;EAW48721;NP_001010844;Q5VVH5;XP_005248711;XP_005248712;XP_005248713;XP_006715399;XP_006715400;XP_006715401 Hs.656212 2106523 IRAK1BP1__6474 AIP70;MGC138458;MGC138460;SIMPL 4921528N06Rik;ActA binding protein 3;IRAK1-binding protein 1;OTTHUMP00000016770;interleukin-1 receptor-associated kinase 1-binding protein 1 protein-coding ENSG00000146243 HGNC:17368 17157 615375 VALIDATED 8549050 IQSEC3P2 IQ motif and Sec7 domain 3 pseudogene 2 12 12 12 p13.2 16795656 16796207 + 11653405 11653956 + 11500471 11501022 + 100130073 ABBA01067822;AC007450;AMYH02026031;NG_021705 pseudo HGNC:49849 INFERRED 1606694 IQUB IQ motif and ubiquitin domain containing INVOLVED IN cilium morphogenesis (inferred); smoothened signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN acrosomal vesicle (inferred); motile cilium (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 6-propyl-2-thiouracil (ortholog); furan (ortholog) 7 7 7 q31.32 117895964 117978456 - 123091993 123174718 - 123451939 123534664 - 6480464;8554872 12477932;14702039;15489334;16189514;16344560;18187620;20602751 154865 A1A4Z1;Q8NA54 ABBA01057733;ABBA01057734;AC073323;AI027604;AI377787;AK093153;AK127736;AMYH02016680;BC026173;BC032838;BC036121;BC057256;BC068607;BC091520;BC128181;BC128182;CH236947;CH471070;DA112303;NM_001282855;NM_178827;NR_104244;NR_104245;XM_005250160;XM_005250161;XM_005250162;XM_005250163 AAH26173;AAH36121;AAH91520;AAI28182;AAI28183;BAC04074;EAL24336;EAW83583;EAW83584;EAW83585;NP_001269784;NP_849149;Q8NA54;XP_005250217;XP_005250218;XP_005250219;XP_005250220 Hs.159650 1727833 G63182 FLJ35834;MGC149284;MGC149285 IQ and ubiquitin-like domain-containing protein;OTTHUMP00000211998;OTTHUMP00000211999;OTTHUMP00000212000 protein-coding ENSG00000164675 HGNC:21995 08194 VALIDATED 1314286 IQGAP3 IQ motif containing GTPase activating protein 3 ENCODES a protein that exhibits calmodulin binding; myosin VI light chain binding; INVOLVED IN activation of MAPK activity (inferred); cellular response to organic substance (inferred); ERK1 and ERK2 cascade (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell-cell junction (inferred); cytoplasm (inferred); lateral plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; calcitriol 1 1 1 q21.3 129568222 129613182 - 156495197 156542396 - 156525405 156572604 - 1580863;6480464;8554872 12477932;14702039;17244649;17314511;19322201;20360068;20800603;21139048;21565611;21890473;22505724;23000965;23667531;23956138;24639526;24778252 128239 F2Z2E2;Q86VI3 AB105103;ABBA01016654;ABBA01016655;AK122653;AL365181;AMYH02001973;AMYH02001974;AMYH02001975;AMYH02001976;AY253300;BC033549;BC131536;BG722726;BM910515;CH471121;JB345527;NM_178229 AAI31537;AAP06954;BAC78211;BAC85501;CDH92866;EAW52945;EAW52946;EAW52947;NP_839943;Q86VI3 Hs.591495 1762771;1762899;1764121;1773523 D1S2557;SHGC-146556;SHGC-146655;SHGC-147771 MGC10170;MGC10831;MGC1947 OTTHUMP00000031854;OTTHUMP00000031855;ras GTPase-activating-like protein IQGAP3 protein-coding ENSG00000183856 HGNC:20669 11051 VALIDATED 1348457 IRAK1 interleukin-1 receptor-associated kinase 1 This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q28 153509662 153519047 - 153275957 153285342 - 154010506 154019891 - 1580863;1582271;1579809;5490218;5490215;5685014;6480464;6484113;6907045;7495784;7495785;7495794;7495782;7495802;7495783;7495791 12860565;15793310;18535784;20086235;20500689;21235323;21898345;21925238;22277195;23018031;23619365;24302991 10022904;10191251;10346818;10383454;10395652;10395695;10465784;10723722;10747026;10854325;10899313;10920205;11076863;11096118;11244088;11259596;11287640;11397809;11518704;11544529;11701612;11744690;11777917;11828002;11937546;11953430;11960013;11976320;12034707;12054681;12055225;12138165;12242293;12370331;12391239;12477932;12496252;12538665;12566447;12609980;12619925;12721283;12724322;12856330;12860405;12874243;12925853;14625308;14684752;14752294;15069085;15084582;15276183;15388348;15465816;15489334;15489336;15523691;15647277;15691841;15767370;15829295;15894263;15917247;16024789;16052631;16094384;16107720;16203735;16286016;16381901;16461741;16477006;16528020;16537705;16690127;16831874;16884718;16907704;16951688;16997282;17053167;17113392;17197697;17276401;17314511;17382928;17548806;17675297;17785851;17878161;17905570;17920759;17997719;18050247;18056395;18070982;18079163;18180283;18221795;18234474;18276832;18326498;18347055;18411265;18474871;18524972;18566305;18724939;18987746;19025640;19026643;19081057;19104650;19166926;19166933;19181383;19185524;19264966;19264973;19282863;19288030;19329491;19453261;19505919;19675569;19716405;19838195;19913121;19948975;20043910;20044140;20056178;20092701;20400509;20448286;20463618;20542134;20562859;20619458;20628086;20676093;20870441;20890200;20937840;21145461;21160042;21204785;21220427;21435586;21537341;21640790;21708940;21804018;21890473;21903422;21906983;21911421;21933552;21963094;21987572;22011580;22033216;22033459;22059479;22447928;22451023;22505724;22678362;22759955;22797925;22851693;22896623;22904187;22904263;23000965;23041547;23233309;23244239;23381138;23383610;23396947;23428850;23435933;23444193;23633945;23776175;23794009;23867959;23986494;24390342;24434549;24469975;24491438;24709033;24735611;24857403;8599092;8837778;9252186;9371760;9374458;9426216;9575168;9625770;9915784;9918122 3654 D3YTB5;F8WAB6;H7C1F0;H7C224;H7C2I6;H7C3C1;H7C3G8;P51617 ABBA01045321;ABBA01045322;AF030876;AF346607;AMYH02040852;BC014963;BC054000;BE276817;CH471172;DQ054788;L76191;NG_008387;NM_001025242;NM_001025243;NM_001569;U52112;XM_005274668 AAC08756;AAC41949;AAH14963;AAH54000;AAK62888;AAY88246;ACE86439;ACE87114;CAL37502;CAL38089;EAW72760;EAW72761;EAW72762;EAW72763;EAW72764;EAW72765;NP_001020413;NP_001020414;NP_001560;P51617;XP_005274725 Hs.522819 1677366;1684776;1685111;1694400;1702682;1703022;1748039;1787376;1800406;1801492;1802118;1803506;1804556;1804602;1805320;1806326;1807816;1810542;1813086;1813380;1813460;1814552;1815146;1819994;1822174;1838582;1838624;1844220;1856498;2035000;2035002;2035004;2035006;2035008;2035010;2035012;2035014;2035016;2035018;2035020;2035022;2035024;2035026;2035028;2035030;2035032;2035034;2035036;2035038;2035040;2035042;2035044;2035046;2035048;2035050;2035052;2035054;2035056;2035058;2035060;2035062;2035064;2035066;2035068;2035070;2035072;2035074;2035076;2035078;2035080;2035082;2035084;2035086;2035088;2035090;2035092;2035094;2035096;2035098;2035106;2035108;2035110;2035112;2035114;2035116;2035118;2035120;2035122;2035126;2035128;2035130;2035132;2035134;2035136;2035138;2035140;2035142;2035144;2035146;2035148;2035150;2035152;2035154;2035156;2035158;2102224;2102226;2102228;2102230;2102232;2102234;2102236 DXS1012E;DXS7069;ECD01063;ECD01621;ECD01941;ECD02651;ECD03207;ECD03233;ECD03607;ECD04118;ECD04883;ECD06264;ECD07562;ECD07711;ECD07751;ECD08306;ECD08607;ECD11068;ECD12173;ECD20465;ECD20486;ECD23323;G42895;G65801;REN88509;REN88510;REN88511;REN88512;REN88513;REN88514;REN88515;REN88516;REN88517;REN88518;REN88519;REN88520;REN88521;REN88522;REN88523;REN88524;REN88525;REN88526;REN88527;REN88528;REN88529;REN88530;REN88531;REN88532;REN88533;REN88534;REN88535;REN88536;REN88537;REN88538;REN88539;REN88540;REN88541;REN88542;REN88543;REN88544;REN88545;REN88546;REN88547;REN88548;REN88549;REN88550;REN88551;REN88552;REN88553;REN88554;REN88555;REN88556;REN88557;REN88558;REN88562;REN88563;REN88564;REN88565;REN88566;REN88567;REN88568;REN88569;REN88570;REN88572;REN88573;REN88574;REN88575;REN88576;REN88577;REN88578;REN88579;REN88580;REN88581;REN88582;REN88583;REN88584;REN88585;REN88586;REN88587;REN88588;RH45050;RH80551;RH80656;RH80797;SHGC-171695;stSG603762;stSG603763;stSG603764;stSG603765;stSG603766;stSG603770;stSG603771 IRAK;IRAK-1 OTTHUMP00000026014;OTTHUMP00000026015;OTTHUMP00000026020;OTTHUMP00000180621;Pelle homolog;pelle APPROVED protein-coding ENSG00000184216 HGNC:6112 02235 300283 REVIEWED 1313252 IRAK4 interleukin-1 receptor-associated kinase 4 This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 12 12 12 q12 42955135 42985734 + 44152747 44183346 + 43758944 43789543 + 1600199;5490218;5490215;5685014;6480464;6484113;6907045;7240710;7495805;7495802;7495804;8554872;8699517 12637671;15622543;18535784;20086235;21235323;21925238;23073793 10508479;10854325;11923871;11960013;12297423;12477932;12496252;12538665;12609980;12721283;12860405;12925671;14625308;14702039;15084582;15276183;15292196;15489334;15825022;15905496;15927069;16024789;16169070;16286015;16286016;16344560;16537705;16907704;16951688;17046325;17141195;17161373;17217339;17276401;17507369;17548806;17675297;17703412;17785851;17878374;17893200;17917042;17997719;18029348;18079163;18174872;18221795;18438411;18503546;18987746;19006693;19074885;19120481;19166926;19181383;19254290;19258923;19264966;19423540;19505919;19592493;19703016;19898481;19913121;20056178;20104875;20105294;20400509;20406964;20438785;20448286;20485341;20503287;20588308;20621347;20628086;20676093;20966070;21160042;21166654;21204785;21205819;21220427;21576904;21738793;21903422;21988832;22011580;22059479;22606974;22610502;22932140;23002119;23027530;23041547;23100432;23255009;23264652;23381138;23519847;23591012;23595970;23776175;23986494;24250222;24316379;24567333;24735611;3772297 51135 B2RAP9;B4E359;F8VR40;F8VVZ1;F8VW24;Q69FE3;Q9NWZ3 ABBA01031422;ABBA01031423;AC093012;AF155118;AF445802;AI126481;AK000528;AK027301;AK299944;AK304583;AK314288;AMYH02026382;AX431306;AY186092;AY283670;AY283671;AY340962;AY340963;AY340964;AY340965;AY340966;AY340967;AY730682;BC013316;CH471111;DA290809;LK938723;NG_009892;NM_001114182;NM_001145256;NM_001145257;NM_001145258;NM_016123;XM_005268943;XM_005268944;XM_005268945;XM_005268946;XM_005268947;XM_005268948;XM_005268949;XM_006719438;XM_006719439;XM_006719440;XM_006719441;XM_006719442;XM_006719443 AAD42884;AAH13316;AAM15772;AAN75440;AAP57089;AAP57090;AAR02358;AAR02359;AAR02360;AAR02361;AAR02362;AAR02363;AAX22228;ABM83811;ABM87133;BAA91232;BAG36946;BAG61774;BAG65371;CAD37279;EAW57867;NP_001107654;NP_001138728;NP_001138729;NP_001138730;NP_057207;Q9NWZ3;XP_005269000;XP_005269001;XP_005269002;XP_005269003;XP_005269004;XP_005269005;XP_005269006;XP_006719501;XP_006719502;XP_006719503;XP_006719504;XP_006719505;XP_006719506 Hs.138499 1680224;2106525;5015619;5015869;5022200;5022578;5024039;5037552;5109281 D11S3114;D16S325;D1S1423;D1S1425;D8S2279;GDB:313261;IRAK4__6475;L18426;RH26210 IPD1;IRAK-4;NY-REN-64;REN64 OTTHUMP00000241037;OTTHUMP00000241041;OTTHUMP00000241042;renal carcinoma antigen NY-REN-64 APPROVED protein-coding ENSG00000198001 HGNC:17967 06051 606883;607676;610799 REVIEWED 1603839 IRF2BP2 interferon regulatory factor 2 binding protein 2 This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 1 q42.3 208010244 208015502 - 234740015 234745271 - 234604269 234609525 - 6480464 12477932;12799427;14702039;15302935;16051665;17121613;18029348;19190336;19322201;19471022;19531213;20686565;20702774;21139048;21576369;21887377;21890473;21903422;22247754;22688191;22863883;23185413;24097068;24250222;24654937 359948 Q7Z5L9 ABBA01033102;AK054864;AK056930;AL160408;AL161640;AMYH02002928;AY278023;AY278024;BC020516;BC041989;BC053539;BC065759;BE408503;CD640986;CH471098;NM_001077397;NM_182972 AAH20516;AAH65759;AAI60054;AAP78944;AAP78945;EAW69996;NP_001070865;NP_892017;Q7Z5L9 Hs.350268 1654102;1773979;2118526;2179287;5020246;5022655;5124850 D1S3579;IRF2BP2;RH67922;RH70773;SHGC-76582;STS-N69419;WI-20983 MGC72189 IRF-2-binding protein 2;OTTHUMP00000036087;OTTHUMP00000036088;interferon regulatory factor 2-binding protein 2 APPROVED protein-coding ENSG00000168264 HGNC:21729 17160 615332 REVIEWED 733858 IREB2 iron-responsive element binding protein 2 ENCODES a protein that exhibits RNA binding; INVOLVED IN aging (inferred); cellular iron ion homeostasis (inferred); cellular response to hypoxia (inferred); ASSOCIATED WITH Alzheimer Disease; Neurodegenerative Diseases (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); mitochondrion (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 5-fluorouracil 15 15 15 q25.1 55667049 55730320 + 78730518 78793798 + 78438176 78501456 + 1580863;6480464;6893299;6893298;8554872 16914832;18685102 11783942;12192037;12200453;12465072;12477932;12629548;12855587;12888568;1421965;14673166;15057521;15146197;15777842;15938636;16503547;17200797;17604281;17613866;17760563;17822790;18574241;18582596;19223469;19762596;19762597;19800047;20173748;20405006;20587604;20587610;20656943;20877624;21139048;21320324;21558272;2172968;21832049;21890473;21906983;21963094;21987572;21988832;22079093;22080838;22093897;22331484;22356581;22461431;22505724;22863883;22914670;23000965;23251661;23741361;23891004;24285726;24394537;24778179;7489724;7523370;7622457;7983023;9560204;9924025 3658 D3DW85;H0YKU0;H0YL48;H0YLE0;H0YMA8;H0YN46;H0YNL8;P48200 AB209403;ABBA01060585;AC011270;AC027228;AK027033;AK027034;AK292992;AL133439;AMYH02030864;BC017880;BC117481;BC117483;BC143948;BX340905;CH471136;CN290278;DQ496102;KF459563;M58511;NM_004136;U20180 AAA69901;AAA79926;AAH17880;AAI17482;AAI17484;ABF47091;ADR83414;BAD92640;BAF85681;CAB62825;EAW99169;EAW99170;EAW99171;NP_004127;P48200 Hs.436031 1645393;1672436;1689149;1694588;1696708;1777880;1778316;1784404;2115003;2140986;2186226;2219834;5022450;5022578;5093734;5094850;5095295;5095297 A009V40;D10S275;D15S908;D1S1423;G32892;G43287;IREB2;IREB2,_C.20-127A>G;IREB2,_C.583+19A>G;IREB2__6476;RH44971;RH65189;RH66624;RH77805;SHGC-172971;SHGC-36650;SHGC-83059;STS-R99019 ACO3;FLJ23381;IRP2;IRP2AD IRE-BP 2;OTTHUMP00000185022;iron regulatory protein 2;iron-regulatory protein 2;iron-responsive element-binding protein 2 protein-coding ENSG00000136381 HGNC:6115 08858 147582 VALIDATED 1319999 IRAK2 interleukin-1 receptor-associated kinase 2 IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008] 3 3 3 p25.3 10142206 10221236 + 10206561 10285427 + 10164877 10243743 + 1580863;5490215;5685014;6480464;6907045;8554872 20086235;21235323 10191251;10383454;11544529;11744690;12138165;12477932;12493773;12659850;12721283;15276183;15489334;15670593;15761153;17342744;17675297;17878161;18996842;19240061;19423540;19453261;19913121;20056178;20200953;20332216;20379614;20406964;20438785;20485341;20628086;20800603;20937840;21048031;21220427;21606490;21903422;21987572;21988832;22011580;22939624;23724040;24084649;24662294;9374458;9625770;9918122 3656 O43187 ABBA01020382;ABBA01020383;ABBA01020384;ABBA01020385;ABBA01020386;ABBA01020387;ABBA01020388;ABBA01020389;AC022384;AF026273;AJ496794;AK299033;AK312841;AL538890;AL556221;AMYH02006252;AMYH02006253;AMYH02006254;BC125184;BG682610;CH471055;NM_001570;XR_245126 AAB87669;AAI25185;BAG35695;BAG61108;CAD43180;EAW64069;NP_001561;O43187 Hs.449207 1645460;1731343;1731689;1731837;1787794;2112584;7184794 D3S1317;D3S1335;D3S1435;D3S4351;SGC38201;SHGC-173185 IRAK-2;MGC150550 OTTHUMP00000207789;interleukin-1 receptor associated kinase-2;interleukin-1 receptor-associated kinase-like 2 APPROVED protein-coding ENSG00000134070 HGNC:6113 04491 603304 REVIEWED 1318010 IRF2BP1 interferon regulatory factor 2 binding protein 1 ENCODES a protein that exhibits ligase activity (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus; INTERACTS WITH daidzein; genistein; pinosylvin 19 19 19 q13.32 43191891 43194401 - 46386866 46389376 - 45883608 45886118 - 6480464 11067960;12477932;12799427;14702039;15231748;17121613;18511908;18671972;19471022;19531213;20211142;21139048;21252943;21693764;21890473;21903422;22505724;23667531;24654937;24816145;25027693;8125298 26145 Q8IU81 ABBA01040956;AC008623;AJ305209;AK092407;AK223622;AK315060;AL080159;AMYH02036211;AY278022;BC005834;BC038222;BC039002;BC078181;CH471126;NM_015649 AAH05834;AAH38222;AAH39002;AAH78181;AAP78943;BAD97342;BAG37535;CAB45750;CAC43219;EAW57396;NP_056464;Q8IU81 Hs.515477 1734636 D19S637E DKFZp434M154 IRF-2-binding protein 1;interferon regulatory factor 2-binding protein 1;probable E3 ubiquitin-protein ligase IRF2BP1 protein-coding ENSG00000170604 HGNC:21728 17159 615331 PROVISIONAL 1318853 IRAK3 interleukin-1 receptor-associated kinase 3 This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 12 12 12 q14.3 66247192 66312632 + 66582978 66648402 + 66189198 66254622 + 1580863;6480464;6484113;6907045;7240710;8554872 10383454;12054681;12138165;12150927;12477932;12721283;14592437;14702039;15342556;15489334;15728517;16344560;16432636;16437636;17379480;17503328;17558906;17982103;18156187;18354163;18987746;19013233;19114913;19166926;19264973;19372141;19414798;19423540;19453261;19561104;19913121;20237496;20331378;20406964;20438785;20448286;20628086;21098228;21278795;21297081;21890473;21903422;21987497;21988832;22070913;22154382;22272346;22634523;22886503;22939624;23376919;23588345;24074582 11213 F5GYN6;Q9Y616 ABBA01026575;ABBA01026576;ABBA01026577;AC078889;AC078927;AF113136;AK023663;AK298645;AK314040;AL049435;AMYH02026678;AMYH02026679;BC029493;BC047399;BC057800;BC069388;BP292474;BQ009433;CH471054;DA594800;NG_021194;NM_001142523;NM_007199 AAD40879;AAH57800;AAH69388;ADZ15596;BAG36749;BAG60819;EAW97164;NP_001135995;NP_009130;Q9Y616 Hs.369265 1680825;1686166;1699106;1797752;1852639;2185221;5014051;5015619;5037552;5118017 D11S3114;D8S2278;D8S2279;G09311;GDB:636835;IRAK3_2162;RH103129;RH44812;RH80864;RH80872 ASRT5;FLJ13601;IRAK-M IL-1 receptor-associated kinase M;IRAKM;OTTHUMP00000239912;OTTHUMP00000239914 APPROVED protein-coding ENSG00000090376 HGNC:17020 05123 604459;611064 REVIEWED 1312641 IRF2 interferon regulatory factor 2 IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [provided by RefSeq, Jul 2008] 4 4 4 q34.1-q35.1 182637543 182724388 - 185308867 185395734 - 184387713 184474580 - 1580863;6480464;8554872 10022868;10102295;10482277;10609788;11025449;11264730;11304541;11420046;11721886;11748221;12474233;12477932;12479817;12799427;14962090;15226432;15342556;15489334;15496418;15560761;15778351;1630448;16582966;16982896;17200120;17698501;18029348;18395009;18514056;19032150;19247692;19471022;19756143;19828629;20034464;20129639;20379614;20980339;21693764;21832049;21903422;21988832;22042864;22113474;22119988;22744333;22939624;23554911;24267727;24583282;24607843;2475256;2813069;7507207;7566098;7768900;8106512;8438157;8550813;9213219;9540062;9865486;9865487 3660 D6R9N5;D6RB08;D6RED1;H0Y956;K4DIA4;K4DIA5;P14316 AA361545;ABBA01070515;ABBA01070516;AC099343;AK312953;AMYH02010648;AMYH02010649;AMYH02010650;BC015803;BP200998;BQ017798;BT007264;BX648934;CH471056;CR457077;D14082;DQ409328;NM_002199;X15949;XM_005262984;XM_005262986 AAH15803;AAP35928;BAG35793;CAA34073;CAG33358;EAX04677;EAX04678;EAX04679;EAX04680;NP_002190;P14316;XP_005263041;XP_005263043 Hs.654566 1654613;1667398;1667400;1682145;1796126;1851468;1854678;2124902;2130488;2150121;2150738;2170922 D4S1161;D4S3342;G34450;IRF2_754;RH91241;SHGC-11934;SHGC-24783;SHGC-25089;SHGC-37407;SHGC-53528;SHGC-57754;SHGC-64834 DKFZp686F0244;IRF-2 OTTHUMP00000218573;OTTHUMP00000218576;OTTHUMP00000218580 APPROVED protein-coding ENSG00000168310 HGNC:6117 00962 147576 REVIEWED 1344104 IRF3 interferon regulatory factor 3 This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 19 19 19 q13.3-q13.4 47032161 47038466 - 50162826 50169132 - 49659569 49665875 - 1580863;5128793;4891951;5128795;5685014;6480464;6907045;8554872 17027894;20673978;20720199;21235323 10082512;10492399;10521456;10805757;10920266;11035028;11124948;11162841;11303025;11314014;11724783;11846977;11884139;11907205;11940575;11972054;12062447;12138184;12354379;12473110;12477932;12524442;12582166;12604599;12692549;12702806;12829834;12829839;12883638;14517278;14555995;14555996;14557267;14668346;14702039;14703513;14729983;14739303;14747533;14747536;14982987;15107417;15220448;15251447;15276183;15303122;15315758;15342556;15452220;15489334;15502848;15510218;15582653;15695821;15761153;15764595;15767394;15841462;15919920;15955070;16143103;16153868;16154084;16182584;16189514;16199137;16301520;16344560;16362036;16394098;16501100;16513254;16537515;16585524;16699525;16846591;16940530;16979567;16984921;16988763;17015689;17079289;17079482;17121613;17126870;17138826;17142768;17182689;17215277;17251580;17296604;17328045;17393359;17449641;17526488;17540767;17560375;17599067;17608743;17626075;17641046;17652396;17703412;17761676;17823124;18029348;18082865;18203148;18216110;18252870;18272195;18272581;18362887;18440553;18450748;18539711;18579584;18635538;18636086;18641315;18676680;18711448;18713996;18781139;18818105;18927075;19012493;19017982;19028691;19038458;19124752;19152337;19153595;19170196;19201840;19211751;19213861;19239434;19258923;19265157;19349300;19380831;19426920;19434718;19445677;19454348;19484123;19515829;19553679;19625176;19646728;19656901;19692168;19701189;19706707;19710021;19826915;19854139;19858727;19890046;19893624;19913121;19955181;19956647;20048147;20048166;20154210;20211142;20308324;20331378;20351107;20360684;20380698;20380700;20381110;20418377;20454685;20483755;20485298;20501320;20503287;20511230;20581830;20604809;20628086;20628368;20631144;20711230;20826620;20886096;20933442;20980500;21079688;21084468;21084487;21120614;21182093;21200386;21225257;21228327;21245146;21248248;21281747;21347389;21411754;21419663;21468605;21497908;21632562;21698224;21768204;21782231;21816816;21835786;21859832;21886773;21890473;21903422;21906983;21931555;21935451;21940674;21988832;22027828;22028379;22072751;22079989;22114345;22127978;22158869;22170100;22208359;22294846;22307793;22388039;22394560;22394562;22479513;22588174;22593165;22647704;22705311;22709905;22745372;22843696;22906770;22908223;23027953;23028469;23077293;23122814;23154183;23281696;23303668;23478265;23512614;23532851;23542224;23552418;23596302;23649622;23650567;23675467;23755934;23824799;23846693;23929945;23951545;23994473;24036127;24049179;24250222;24257594;24275652;24275658;24335286;24385435;24622840;24726876;24763515;24807708;24807717;24816145;24872591;8524823;9463386;9488451;9566918;9649509;9660935;9803267;9865487 3661 E2GIM5;E2GIM6;E2GIM7;E2GIM8;E2GIM9;M0QX56;M0QXC8;M0QYT9;M0QYX3;M0QZB7;M0QZB8;M0R007;M0R0R8;M0R0X9;M0R205;M0R3C2;M0R3E9;M0R3H7;Q14653 AA568913;AB102884;AB102886;AB102887;ABBA01032913;AC011495;AF112181;AK057577;AK292027;AK314421;AMYH02036325;BC000660;BC009395;BC071721;BM477213;BP347627;BU859806;CB961512;CH471177;DA938709;DA999381;HM357932;HM357933;HM357934;HM357935;HM357936;HM357937;NG_031810;NM_001197122;NM_001197123;NM_001197124;NM_001197125;NM_001197126;NM_001197127;NM_001197128;NM_001571;NR_045568;U86636;XM_006723197;XM_006723198;XM_006723199;XM_006723200;XM_006723201;XM_006723202;XR_430199;Z56281 AAC68818;AAD05262;AAH00660;AAH09395;AAH71721;ABM84381;ABM87305;ADN86147;ADN86148;ADN86149;ADN86150;ADN86151;ADN86152;BAD89413;BAD89415;BAD89416;BAF84716;BAG37040;CAA91227;EAW52510;EAW52511;EAW52512;EAW52513;NP_001184051;NP_001184052;NP_001184053;NP_001184054;NP_001184055;NP_001184056;NP_001184057;NP_001562;Q14653;XP_006723260;XP_006723261;XP_006723262;XP_006723263;XP_006723264;XP_006723265 Hs.289052;Hs.731922;Hs.75254 1664968;1725693;1775141 G62110;NIB1805;SGC34742 IRF-3 APPROVED protein-coding ENSG00000126456 HGNC:6118 04769 603734 REVIEWED 5132810 IRF5P1 interferon regulatory factor 5 pseudogene 1 8 8 8 90171672 90173817 + 93984824 93986969 + 92972596 92974741 + 100420406 ABBA01037432;AC027242;AMYH02018410;NG_026120 pseudo HGNC:41981 INFERRED 735989 IRF1 interferon regulatory factor 1 IRF1 encodes interferon regulatory factor 1, a member of the interferon regulatory transcription factor (IRF) family. IRF1 serves as an activator of interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction of these genes. IRF1 also functions as a transcription activator of genes induced by interferons alpha, beta, and gamma. Further, IRF1 has been shown to play roles in regulating apoptosis and tumor-suppressoion. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 127947368 127956530 - 131817301 131826465 - 132481609 132490773 - 1600013;1600014;1580863;5128721;5128774;5128782;632385;2298928;5128787;5128723;5128726;5128725;2317873;5128724;2317694;5128786;5128775;5128720;5128716;5128719;6480464;6484113;6907045;7240710;8554872;8699517 10225979;10395927;10497103;10930443;11069564;11083808;11723173;11854220;11880315;12437578;12503083;12787392;14605445;15141302;16961714;19075038;20045913;20980260;9679752 10022868;10094406;10357819;10438822;10702232;10764778;11240951;11304541;11315919;11483597;11559933;11675348;11716756;11721695;11804954;11846971;11846972;11846974;11909852;11948194;11970993;12021315;12067985;12105194;12115600;12162881;12191570;12420205;12420214;12433281;12477932;12479817;12482935;12545159;12677441;12711307;12732645;12759449;12788988;12799427;1382447;14599866;14662860;14675396;14764039;14993214;15078941;15173018;15226432;15241475;15265939;15331704;15489234;15489334;15509808;15511228;15548708;15560761;15576464;15710386;15778351;15863386;15878912;15893730;15907481;16085646;16195385;16195814;16223733;16483648;16512786;16636311;16679314;16703666;1680796;16857162;16894313;16914093;16944293;16982896;17016442;17121613;17177148;17213842;17255955;17328074;17498560;17516545;17617740;17703412;17852336;17869652;17918184;17924060;17942705;17947510;17970693;17985330;18035482;18079498;18084608;18200030;18216101;18316378;18338947;18381204;18401423;18454680;18641303;18655181;18676680;18678606;18688264;18694960;18986693;19012493;19028144;19056926;19129219;19131452;19145247;19170196;19247692;19258923;19295429;19345417;19404407;19426920;19428110;19433065;19450680;19463200;19482358;19502235;19536153;19548631;19574175;19593445;19625176;19642896;19692168;19697121;19805480;19828629;19845895;19851330;19858727;19880820;20031576;20031577;20177805;20177960;20211142;20435892;20457620;20459687;20485362;20503287;20525893;20533260;20588308;20817723;20846942;20861350;20947504;20980339;21102463;21200019;21245151;21257209;21288140;21300955;21389130;21411754;21586271;21683060;21725055;21740303;21790247;21803131;21834067;21903422;21988832;22096509;22139419;22213332;22345458;22367195;22401175;22874466;22879909;23040881;23046934;23071666;23128233;23134341;23226549;23255602;23333304;23378427;23487038;23554911;23670564;23729439;23746807;23799084;23807161;23811275;23934855;23969696;24267727;24396068;24464131;24583282;24721577;2475256;24940638;2726461;3409321;7507207;7768900;8438156;8746784;9593745;9649509;9659924;9742224;9865486;9865487 3659 C9J9C5;C9JD95;F8WCM1;P10914;Q6FHN8;R4GNI0 AA402319;AB103081;AB209624;ABBA01068805;AC003959;AC116366;AK298770;AK314025;AMYH02012215;BC009483;BT019755;BT019756;CH471062;CR541713;DQ789232;KC209827;KC209828;KJ200632;KJ200633;KJ200634;L05072;NG_011450;NM_002198;X14454;XR_427711 AAA36043;AAB93488;AAH09483;AAV38560;AAV38561;ABH05670;ABM84195;ABM87598;AGV15458;AGV15459;AHW49376;AHW49377;AHW49378;BAD89424;BAD92861;BAG36735;BAG60912;CAA32624;CAG46514;EAW62332;NP_002189;P10914 Hs.436061 1661384;1743197;1744955;1791414;1791698;1794902;1796124;1803388;1803556;1803814;1804820;1804934;1811920;1815528;1820336;1824304;1826664;1834968;1836086;1839246;1999052;1999054;1999056;1999058;1999060;1999062;1999064;1999066;1999068;1999070;1999072;1999074;1999076;1999078;1999080;1999082;1999084;1999086;1999088;1999090;1999092;1999094;1999096;1999098;1999100;1999102;1999104;1999106;1999108;1999110;1999112;1999114;1999116;1999118;1999120;1999122;1999124;1999126;1999128;1999130;1999132;1999134;1999136;1999138;1999140;1999142;2096094;2096096;2096098;2096100;2096102;2096104;2123289;2176563;5015619;5015861;5015961;5016478;5020881;5021872;5022578;5022651;5037552;5109281;5120217;7185938 D10S16;D11S2921;D11S3114;D15S1477;D1S1423;D1S1425;D5S1548;D8S2279;ECD02591;ECD02679;ECD02816;ECD03343;ECD03403;ECD06964;ECD08800;ECD11243;ECD13250;ECD14446;ECD18635;ECD19204;ECD20803;GDB:211052;GDB:294203;GDB:434012;GDB:581873;IRF1_162;L17709;PMC109445P2;PMC120056P1;PMC84085P1;REN70438;REN70439;REN70440;REN70441;REN70442;REN70443;REN70444;REN70445;REN70446;REN70447;REN70448;REN70449;REN70450;REN70451;REN70452;REN70453;REN70454;REN70455;REN70456;REN70457;REN70458;REN70459;REN70460;REN70461;REN70462;REN70463;REN70464;REN70465;REN70466;REN70467;REN70468;REN70469;REN70470;REN70471;REN70472;REN70473;REN70474;REN70475;REN70476;REN70477;REN70478;REN70479;REN70480;REN70481;REN70482;REN70483;STS-X14454;WI-7178;sY3084;stSG601315;stSG601316;stSG601317;stSG601318;stSG601319;stSG601320 IRF-1;MAR OTTHUMP00000065831;OTTHUMP00000065832;OTTHUMP00000198266;OTTHUMP00000199798;interferon regulatory factor 1 isoform +I9;interferon regulatory factor 1 isoform d78;interferon regulatory factor 1 isoform delta4;interferon regulatory factor 1 isoform delta7 APPROVED protein-coding ENSG00000125347 HGNC:6116 00961 137215;147575;211980;613659 REVIEWED 1322211 IRF2BPL interferon regulatory factor 2 binding protein-like This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012] 14 14 14 q24.3 57529452 57533597 - 77490886 77495042 - 77024543 77028699 - 6480464 11095982;11347906;12029088;12477932;12508121;15302935;15345747;16051665;16341674;17081983;17627301;19022886;19322201;19471022;19690564;21139048;21252943;21693764;21903422;22379998;22863883;22939629;23000965;24250222;8889548 64207 Q9H1B7 AB058768;ABBA01030663;AC007686;AF063597;AI377523;AI821684;AJ277365;AL832320;AMYH02029565;AW001869;BC042460;BC108292;BI765830;BM690017;BM744266;CB852902;NM_024496 AAG43156;BAB47494;CAC10539;CAD38615;NP_078772;Q9H1B7 Hs.179260;Hs.745194 2190559 EST27B2 C14orf4;EAP1;KIAA1865 OTTHUMP00000246540;enhanced at puberty 1;enhanced at puberty protein 1;interferon regulatory factor 2-binding protein-like APPROVED protein-coding ENSG00000119669 HGNC:14282 10713 611720 REVIEWED 1317594 IRF4 interferon regulatory factor 4 The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010] 6 6 6 p25-p23 1620599 1639926 + 391739 411443 + 391739 411443 + 1600211;1580863;6480464;6484113;7240710;8699517 9326949 10022840;10196196;10453013;10601358;10714679;11342629;11749693;11846984;11956291;12218129;12372320;12374808;12477932;12549820;12566414;12676954;12920225;14574404;15242870;15489334;15829558;16189514;16236719;16272311;17121613;17150500;17296585;17502719;17690696;17768115;17952075;18029348;18231914;18235046;18417578;18483556;18758461;18815567;18962896;18987657;19047678;19144381;19340012;19396635;19448593;19573080;19604093;19656156;19710684;19717648;19773279;19787248;19804451;19812605;19897031;19925052;19946888;19955181;20054341;20090783;20123861;20190752;20211142;20332261;20408839;20553269;20568250;20585627;20587610;20602913;20647408;20674401;20731705;20855867;21169992;21197618;21270109;21454650;21487109;21498517;21680528;21685912;21728176;21791429;21890374;21903422;21906983;21919915;22003407;22025054;22512251;22515488;22528235;22698399;22700719;22718837;22994707;23029519;23073988;23138182;23303382;23332472;23445872;23537197;23548203;23658517;23666852;23770605;23804646;23804715;23992230;24074333;24204280;24267888;24292274;24390342;24928034;24995979;25015289;8657101;8921401 3662 F2Z3D5;Q15306 ABBA01048669;AC243946;AK130762;AK310149;AL365272;AL512308;AL589962;AW197089;BC015752;BG230623;BM551611;CH471087;CR977713;D78261;KF458069;NG_027728;NM_001195286;NM_002460;NR_046000;U52682;U52683;U63738;XM_006715090 AAB37258;AAC50779;AAH15752;ABM84398;ABM87301;BAA11335;EAW55056;EAW55057;EAW55058;EAW55059;EAW55060;NP_001182215;NP_002451;Q15306;XP_006715153 Hs.401013 1701566;1785830;2123470 RH104416;SHGC-106840;STS-N33454 IRF-4;LSIRF;MUM1;NF-EM5 OTTHUMP00000017905;OTTHUMP00000017906;lymphocyte-specific interferon regulatory factor;multiple myeloma oncogene 1 APPROVED protein-coding ENSG00000137265 HGNC:6119 03543 254500;601900 REVIEWED 1321354 IRF5 interferon regulatory factor 5 This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Multiple transcript variants encoding different isoforms have been found for this gene, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Mar 2010] 7 7 7 q32 123374509 123386585 + 128577976 128590089 + 128937940 128950035 + 1580863;6480464;6907045;7240710;8554872 11303025;11846976;11997525;12138184;12477932;12600985;12690205;14559832;15308637;15489334;15556946;15657875;15665823;15695821;15805103;16642019;17121613;17133578;17158136;17166181;17189288;17389033;17393452;17412832;17476532;17557928;17568788;17599733;17609264;17703412;17881657;18050197;18063667;18200047;18204098;18204446;18260169;18285424;18288123;18311811;18323517;18332133;18408250;18438842;18505922;18579578;18668568;18752149;18824541;18836453;18843782;18843785;19019891;19028697;19043711;19092842;19116937;19129183;19228650;19258923;19430534;19479858;19565491;19567624;19644876;19644887;19758313;19778284;19786094;19816589;19838193;19851296;19854706;19877059;19913121;19918036;20015215;20049410;20080916;20090783;20112383;20127100;20131273;20137629;20197570;20198315;20211142;20231204;20237317;20351107;20383147;20439292;20453440;20453842;20479942;20503287;20588308;20616560;20628086;20639879;20639880;20695768;20797713;20848568;20861858;20861862;20881011;20935208;20962850;20980283;21040166;21133648;21156761;21239750;21297633;21399635;21408207;21454650;21471993;21627826;21750679;21779181;21807777;21834935;21898142;21903422;21968701;21988832;22025054;22053985;22088620;22179739;22194884;22257839;22412986;22440820;22500098;22507190;22544929;22674082;22730365;22816737;22909381;23053960;23073787;23128233;23154183;23236436;23273568;23275442;23288367;23302156;23349905;23372721;23392701;23616277;23740937;23801380;23883595;23971939;23985571;23990993;24014567;24116155;24445143;24532789;24928322;9865487 3663 B7Z1M2;C9J7M2;C9JAU6;C9JB67;C9JYP7;F8WDH6;Q13568 ABBA01057648;AC025594;AK293654;AK297083;AL713733;AMYH02016721;AMYH02016722;AY504946;AY504947;AY693665;AY693666;AY693667;AY693668;AY693669;BC004139;BC004201;BU540632;BU950658;CA427676;CA444548;CH236950;CH471070;DC427600;DQ277633;DQ277634;DQ995492;DQ995493;DQ995494;EF064718;EU258895;EU258896;EU258897;EU258898;JQ950681;JQ950683;JQ950685;KF459647;NG_012306;NM_001098627;NM_001098629;NM_001098630;NM_001242452;NM_032643;U51127;XM_005250317;XM_006715974 AAA96056;AAH04139;AAH04201;AAR90325;AAR90326;AAU12877;AAU12878;AAU12879;AAU12880;AAU12881;ABB88960;ABB88961;ABK41901;ABM84563;ABW03485;ABX54712;ABX54713;ABX54714;ABX54715;AFN70752;AFN70754;AFN70756;BAG59600;BAH11558;EAL24107;EAL24108;EAW83703;EAW83704;EAW83705;EAW83706;EAW83707;NP_001092097;NP_001092099;NP_001092100;NP_001229381;NP_116032;Q13568;XP_005250374;XP_006716037 Hs.521181 1647210;1652246;1669968;1796128 GDB:4585333;IRF5_452;SHGC-63648;STS-U51127 IRF-5;SLEB10 OTTHUMP00000212904;OTTHUMP00000212905;OTTHUMP00000212907;OTTHUMP00000212910 APPROVED protein-coding ENSG00000128604 HGNC:6120 06240 607218;612245;612251 REVIEWED 2292071 IRG1 immunoresponsive 1 homolog (mouse) ENCODES a protein that exhibits aconitate decarboxylase activity; INVOLVED IN cellular response to lipopolysaccharide; defense response; metabolic process; FOUND IN mitochondrion (ortholog); INTERACTS WITH 1-chloro-2,4-dinitrobenzene (ortholog); arsane (ortholog); arsenic atom (ortholog) 13 13 13 q22.3 58409986 58430124 + 77522694 77532777 + 76948559 76958642 + 6480464 21424586;23609450;23610393 730249 A6NK06;H7C1Q4 ABBA01021659;AC000403;AC001226;AI652725;AMYH02028310;BX105915;CH471093;DN831390;NM_001258406 A6NK06;EAW80560;NP_001245335 Hs.160789 1737445;1737453 D13S1007;D13S1011 CAD aconitate decarboxylase;cis-aconitate decarboxylase;cis-aconitic acid decarboxylase;immune-responsive gene 1 protein homolog protein-coding ENSG00000102794 HGNC:33904 615275 INFERRED 1606259 IRGC immunity-related GTPase family, cinema ENCODES a protein that exhibits GTP binding (inferred); hydrolase activity, acting on acid anhydrides (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane (inferred); INTERACTS WITH bisphenol A (ortholog); choline (ortholog); folic acid (ortholog) 19 19 19 q13.31 41023793 41027752 + 44220214 44224173 + 43716062 43720021 + 6480464;8554872 12477932;20237496;21832049 56269 J7NNX4;M0R0T1;Q6NXR0 ABBA01040868;AC005622;AMYH02036172;BC033853;BC066939;CH471126;FR734011;HC007054;HC044623;NM_019612;XM_005259058;XM_006723283 AAC34467;AAH33853;AAH66939;CBH19332;CBH30641;CBY65974;EAW57221;EAW57222;NP_062558;Q6NXR0;XP_005259115;XP_006723346 Hs.515444 IRGC1;Iigp5;R30953_1 CINEMA;IFGGE;OTTHUMP00000206186;immunity-related GTPase cinema 1;immunity-related GTPase family, cinema 1;interferon inducible GTPase 5;interferon-gamma-inducible GTPase IFGGE protein;interferon-inducible GTPase 5 protein-coding ENSG00000124449 HGNC:28835 15200 VALIDATED 1318730 IRF9 interferon regulatory factor 9 ENCODES a protein that exhibits regulatory region DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN cell surface receptor signaling pathway (inferred); cytokine-mediated signaling pathway (inferred); defense response to virus (inferred); PARTICIPATES IN type II interferon signaling pathway; hepatitis C virus infection pathway; Jak-Stat signaling pathway; FOUND IN cytoplasm; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 14 14 14 q11.2 4494890 4500242 + 24630422 24635774 + 24161213 24166565 + 1580863;6480464;6484113;6907045 10199920;10702714;10860992;11846981;11997525;12060499;12477932;12509459;12549820;12693554;12799427;14702039;15093743;15194680;15489334;15668228;15714000;1630447;16318580;16595158;16689942;16849320;17121613;17351669;17559358;17703412;17923090;18029348;18370868;18456457;19258923;19322201;19604093;19752753;19786833;20211142;20331378;20389019;20403236;20503287;20634891;20943654;20964804;20980339;21268015;21697347;21903422;21957129;21988832;22902549;23913484;7829101;8454630;8550813;8943351;9242679;9417904 10379 H0YMB0;H0YMB6;H0YNM9;H0YNP4;H7BXP4;Q00978 ABBA01061334;AK295467;AK308347;AL136295;AMYH02028880;BC035716;BI497082;BI919023;CH471078;G13571;M87503;NM_006084;U92994 AAA58687;AAH35716;ABZ92221;BAG58398;EAW66092;EAW66093;EAW66094;NP_006075;Q00978 Hs.1706 1681909;1760145;2129422;2134475;5118097 D14S1328;G64280;RH1632;RH76410;SHGC-132043 IRF-9;ISGF3;ISGF3G;p48 IFN-alpha-responsive transcription factor subunit;ISGF-3 gamma;ISGF3 p48 subunit;OTTHUMP00000164692;OTTHUMP00000164693;interferon-stimulated gene factor 3 gamma;interferon-stimulated transcription factor 3, gamma (48kD);interferon-stimulated transcription factor 3, gamma 48kDa;transcriptional regulator ISGF3 subunit gamma 2315792 GLUCO171_H protein-coding ENSG00000213928 HGNC:6131 00960 147574 VALIDATED 1351360 IRF8 interferon regulatory factor 8 Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008] 16 16 16 q24.1 70235758 70259207 + 85932774 85956212 + 85899168 85922606 + 6480464;6484113;8554872;7240710 10092656;10102295;10734131;10991940;11483597;11997525;12477932;12549820;12904288;1460054;15371411;15489234;15489334;15761153;15837792;16484229;16504056;16886895;16914719;16918696;17121613;17200120;17386941;17579016;17687331;18029348;18195016;18246201;18316378;18469857;18580679;18596738;18701018;18922617;19074829;19201866;19525953;19542426;19801548;19865102;19879194;20201926;20301492;20430450;20435892;20573402;20634887;20679491;20980339;21131588;21178004;21216962;21220691;21228327;21441570;21475251;21487040;21524210;21552549;21625229;21779181;21833088;21890473;21903422;22003407;22046141;22082370;22096565;22262849;22446963;22464253;22879909;22942423;22994200;23128233;23307532;23308054;23314186;23468103;23511034;23573829;23658517;23661672;23740937;23775715;23857890;23967110;24292274;24390342;24435047;24753251;7768900;8550813;8861914;9593745;9742224 3394 H3BNX4;H3BPS5;H3BQF9;H3BQH6;H3BQK3;H3BRT4;H3BT31;H3BVC2;Q02556 AA232881;ABBA01034284;AC092723;AI307662;AK313524;AMYH02032601;AMYH02032602;BC126247;BF110315;BG107396;BI835080;CB214983;CH471114;M91196;NG_029333;NM_002163;XM_006721187 AAB63813;AAI26248;BAG36304;EAW95435;NP_002154;Q02556;XP_006721250 Hs.137427 1699520;1721245;2148105;2179848;2217462;5094326 D16S3205;G54712;G59469;ICSBP1_3162;RH103354;RH69196 H-ICSBP;ICSBP;ICSBP1;IMD32A;IMD32B;IRF-8 OTTHUMP00000175003;interferon consensus sequence binding protein 1;interferon consensus sequence-binding protein APPROVED protein-coding ENSG00000140968 HGNC:5358 03336 601565;614893;614894 REVIEWED 1320095 IRF6 interferon regulatory factor 6 This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011] 1 1 1 q32.3-q41 183192156 183210363 - 209958968 209979520 - 209785623 209806175 - 1600214;1580863;6480464;7240710;8554872;8699517 12219090 10593995;10645953;11544322;12477932;12920575;12964020;14618417;14640113;14757865;15013698;15300989;15317890;15489334;15647839;15994871;16049006;16132054;16160700;16211254;16344560;16710414;16998136;17041603;17122170;17318851;17438386;17549393;17551329;17702008;17937438;18209213;18212048;18247422;18278815;18452891;18506368;18798331;18813858;18836445;18978678;19036739;19056867;19115793;19270707;19282774;19372376;19388848;19419265;19449419;19527266;19536562;19536891;19734457;19780991;19842205;19929101;19937600;20023658;20032603;20121942;20184620;20211142;20301581;20424325;20436469;20544801;20564431;20572854;20634891;20652317;20672350;20799332;20803643;20848922;20856073;21039277;21082654;21129360;21468557;21683068;21739575;21792966;21807998;21834040;21885341;21903422;21906983;21909072;21995291;22379092;22440537;22487822;22863734;22876587;22887868;22931925;23029012;23154410;23154523;23166094;23169698;23510002;23512105;23921572;23940636;24360809;24377609;24872416;3812594;5317890 3664 B1AJU4;G0Z349;O14896 ABBA01048213;AF027292;AK296960;AK312857;AL022398;AMYH02002600;BC014852;BI770148;CH471100;DA016081;HQ875393;NG_007081;NM_001206696;NM_006147 AAB84111;AAH14852;AEK31251;BAG35709;BAG59504;EAW93438;EAW93439;NP_001193625;NP_006138;O14896 Hs.591415 1683289;1689604;2167949;5014053;5491609 D1S3693;MARC_24336-24337:1030113089:1;RH67815;RH98921;SHGC-76222 IRF-6;LPS;OFC6;PIT;PPS;PPS1;VWS;VWS1 OTTHUMP00000034677;OTTHUMP00000034678 APPROVED protein-coding ENSG00000117595 HGNC:6121 06227 119300;119500;607199;608864 REVIEWED 1606062 IRS3P insulin receptor substrate 3, pseudogene 7 7 7 q22.1 94892678 94897550 + 100167816 100169024 + 100570193 100571401 + 6480464 12477932;12488959;14702039;20226764;22635093;9799793 442338 ABBA01013198;AC069281;AMYH02016383;AMYH02016384;CH236956;NG_005538 2168562;2182882 SHGC-30530;WI-16019 IRS3L APPROVED pseudo HGNC:6127 INFERRED 1606733 IRGQ immunity-related GTPase family, Q ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH torcetrapib; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.31 40890998 40902768 - 44088519 44100287 - 43584367 43596135 - 6480464;8554872 12477932;14702039;15146197;16277747;17353931;19773279;8889548 126298 M0QZP8;Q8WZA9 ABBA01040863;AC006276;AF322648;AK022583;AK096168;AK124786;AK128554;AMYH02036168;BC137020;BC137021;BC144451;BM669904;CH471126;CN315405;NM_001007561;XM_005258515;XM_005258516 AAI37021;AAI37022;AAI44452;AAL33884;BAC85949;BAC87498;EAW57205;NP_001007562;Q8WZA9;XP_005258572;XP_005258573 Hs.6217 1674946;1721707;1768481;5014039;5015404;5015619;5015861;5015879;5016478;5016851;5017266;5020242;5020414;5020740;5020946;5020948;5021228;5022200;5022450;5022578;5022651;5024039;5024413;5024756;5037552;5109281;5118576;7185938 D10S16;D10S275;D11S2612;D11S2921;D11S3114;D11S3430;D16S325;D19S996;D1S1423;D1S1425;D22S1584;D8S2279;G35510;G59716;GDB:312794;GDB:314949;GDB:434012;HSC07E112;L17688;L17705;L17809;L17877;L17971;L18426;L18506;RH80030;RH80031 FKSG27;FLJ12521;FLJ38849;FLJ42796;FLJ46713;IRGQ1 immunity-related GTPase family Q protein;immunity-related GTPase family, Q1 protein-coding ENSG00000167378 HGNC:24868 17161 VALIDATED 1601797 IRGM immunity-related GTPase family, M This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis.[provided by RefSeq, Oct 2010] 5 5 5 q33.1 146307411 146309557 + 150226085 150228231 + 150846523 150848669 + 6480464;6907045;7240710;8554872;8699517 12477932;14576437;16277747;16888103;17554261;17554300;17921695;18438406;18580884;18587394;18936107;18985712;19098858;19120485;19165925;19174780;19266026;19422935;19491842;19683022;19750224;19760754;20024904;20106866;20210993;20360734;20395867;20547146;20737271;20886065;20962850;21049557;21072187;21079743;21102437;21102463;21283700;21508684;21981022;22163006;22174682;22228152;22370477;22508677;22573572;22713085;23049477;23128233;23365659;24232856;7561525 345611 A1A4Y4;H0YBM2 ABBA01026269;AC010441;AMYH02012464;BC038539;BC128167;BC128168;EU742619;FJ824056;NG_027809;NM_001145805 A1A4Y4;AAI28168;AAI28169;ACF21844;ACO88909;NP_001139277 Hs.519680;Hs.652148 2219912 LRG47__6422 IFI1;IRGM1;LRG-47;LRG47;MGC149263;MGC149264 LPS-stimulated RAW 264.7 macrophage protein 47 homolog;LRG-47-like protein;OTTHUMP00000224493;immunity-related GTPase M;immunity-related GTPase family M protein;immunity-related GTPase family M protein 1;immunity-related GTPase family, M1;interferon-inducible protein 1 APPROVED protein-coding ENSG00000237693 HGNC:29597 607948;608212;612278 REVIEWED 1349465 IRX1 iroquois homeobox 1 This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011] 5 5 5 p15.3 3626588 3631937 + 3596168 3601517 + 3596054 3601403 + 1580863;6480464 10370142;11435706;12477932;15489334;18421076;18559491;19240061;19322201;20029986;20306291;20440264;21602894;21649733;22542470;23456299;8889548 79192 P78414 ABBA01009411;ABBA01009412;AC016595;AMYH02010786;AY335938;AY335947;BC029160;CH471102;NM_024337;U90307 AAB50005;AAH29160;AAI66635;AAQ16544;AAQ16553;EAX08131;NP_077313;P78414 Hs.424156 1679551;2159063 RH98982;SHGC-56703 IRX-5;IRXA1 OTTHUMP00000220489;homeodomain protein IRXA1;iroquois homeobox protein 1;iroquois-class homeodomain protein IRX-1 APPROVED protein-coding ENSG00000170549 HGNC:14358 16203 606197 VALIDATED 1606345 IRX1P1 iroquois homeobox 1 pseudogene 1 13 13 13 q12.12 6378249 6384098 + 25319404 25320257 + 24745266 24746119 + 646390 ABBA01007894;AL391560;AMYH02027709;NG_009487 pseudo HGNC:33315 INFERRED 1317251 IRF7 interferon regulatory factor 7 IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 677701 681146 - 612555 615999 - 612555 615999 - 1580863;6480464;6907045 10924517;11031102;11073981;11124948;11162841;11314014;11846980;11877397;11884139;11943871;12374802;12477932;12539042;12604599;12692549;12915551;14517278;14729983;14739303;14747533;14759258;14968112;15251447;15265881;15276183;15308637;15361868;15664159;15664995;15695821;15767370;16127453;16153868;16237059;16341674;16344560;16484229;16778376;16979567;17079482;17121613;17374731;17393359;17404045;17522209;17599067;17823124;18227218;18397234;18505922;18539711;18635538;18641315;18710948;18922877;18987133;19017798;19152337;19285439;19349300;19404407;19426920;19515829;19858727;19880818;20112359;20154210;20209099;20331378;20381110;20392859;20467438;20483755;20581830;20588308;20628624;20668674;20689596;20810735;20844090;20943654;20962850;20980251;20980500;21084487;21167895;21183682;21360504;21435390;21632682;21890473;21903422;21906983;21926187;21931555;21940674;21988832;22095711;22112518;22140520;22194884;22301143;22433914;22455868;22505724;22588174;22709905;22787218;22820642;23175366;23490285;23535064;23740937;23846693;23956435;24267727;24275658;24385435;9315633;9660935;9786932;9865487 3665 B4E1B1;E9PIA7;E9PQ11;E9PR03;E9PSE3;M9RSF4;Q92985 ABBA01015197;AC138374;AF076494;AF277159;AK303752;AMYH02024146;AP006284;BC136555;BC144242;BM849172;CH471158;DA601567;DA967682;KC477210;NG_029106;NM_001572;NM_004029;NM_004031;U53830;U53831;U53832;U73036;XM_005252906;XM_005252907;XM_005252908;XM_005252909;XM_006725137;XM_006725138;XM_006725139 AAB17190;AAB80686;AAB80688;AAB80690;AAB80691;AAC70999;AAG30003;AAI36556;AGI78456;BAG64723;EAX02355;EAX02356;EAX02357;EAX02358;EAX02359;EAX02360;NP_001563;NP_004020;NP_004022;Q92985;XP_005252963;XP_005252964;XP_005252965;XP_005252966;XP_006725200;XP_006725201;XP_006725202 Hs.166120 1683759;1792572 PMC154027P4;RH99331 IRF-7;IRF-7H;IRF7A;IRF7B;IRF7C;IRF7H OTTHUMP00000162886;OTTHUMP00000162887;OTTHUMP00000162888;OTTHUMP00000229433;OTTHUMP00000229434;interferon regulatory factor-7H APPROVED protein-coding ENSG00000185507 HGNC:6122 05441 605047 REVIEWED 1352224 IRS4 insulin receptor substrate 4 IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008] X X X q22.3 108447146 108451026 - 107963179 107979643 - 108719949 108736413 - 1580863;6480464;6907045;7248547;8554872 23055040 10594015;11316748;11912194;12052866;12639902;12732844;12774026;14968112;15155816;15316024;15324660;15331607;15717329;15870689;16196087;16273093;17215244;17314511;17408801;17720279;17965023;18165436;18660489;19029952;19913121;20340132;20416304;20628086;20811636;21081666;21139048;21145461;21151955;21360678;21407155;21517825;21706016;21726808;21852217;21890473;21955513;22167131;22337587;22586326;22810585;23125841;23398456;23443559;23455922;24039912;24255178;24639526;24797263;25036637;9261155;9553137;9609109;9614078 8471 O14654 ABBA01036043;ABBA01036044;ABBA01036045;AF007567;AL035425;AMYH02040222;CH471120;NG_013239;NM_003604;XM_005262220;XM_006724713 AAC51738;AAI56189;AAI56978;EAX02682;NP_003595;O14654;XP_005262277;XP_006724776 Hs.460872 1701200;1794974;2110519;5017905;5024545 D1S3695;IRS4;MARC_37657-37658:1077807976:1;PMC86565P3;RH104228 IRS-4;PY160;pp160 160 kDa phosphotyrosine protein;OTTHUMP00000023837;phosphoprotein of 160 kDa APPROVED protein-coding ENSG00000133124 HGNC:6128 04620 300904 REVIEWED 736204 IRS2 insulin receptor substrate 2 This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008] 13 13 13 q34 91250464 91283200 - 110406184 110438914 - 109753837 109786567 - 1625025;1331525;1299201;1580595;1625023;1580863;2302071;6480464;6483014;6484113;6907045;7240710;7257699;7207063;4142788;7257702;7248547 11030756;12850498;12891559;15118671;15316008;15811564;20555424;20720385;20846698;22820932;23055040;23617393 10077005;10417350;10480623;10594015;10679027;10856136;11054408;11147812;11481324;11505033;11522686;11600548;11641236;11872698;11912194;12052866;12107746;12167717;12189449;12198247;12213887;12228220;12379806;12475767;12477932;12493740;12519871;12554758;12660731;12687350;12732844;12765968;12783867;12821935;12933652;12960006;14534541;14604996;14653106;14978080;15057823;15123681;15127203;15155816;15161933;15247132;15292987;15302935;15308584;15324660;15514089;15588985;15678496;15778465;15926113;15940190;16030120;16086274;16127164;16150916;16448675;16489531;16652127;16814735;16839840;16964243;17030631;17051426;17068339;17081983;17222321;17353931;17361103;17374994;17416760;17898946;17901049;17914103;17925406;17979178;18059035;18079194;18271526;18506362;18611262;18660489;18802016;18992263;19038974;19109239;19124510;19190347;19259821;19322201;19332049;19377890;19447894;19509476;19561084;19604268;19690174;19755487;19818665;19875459;19878940;19887537;19913121;19926323;19929986;20092705;20184486;20210696;20354165;20416077;20416304;20628086;20634197;20685959;21042750;21045156;21258861;21325637;21340542;21693764;21700708;21706016;21771880;21777391;21801267;21852217;21890473;21933986;21984580;22147666;22205343;22287730;22465474;22523112;22623531;22844442;22912850;22939629;22974441;22994406;23018177;23049845;23147115;23216712;23251408;23439647;23594372;23706954;24255178;24401133;24616100;7499365;7559579;7675087;7876077;8550573;8621590;8626379;8662806;8732688;8910607;8938433;8954948;9113989;9195949;9295312;9312143;9334184;9495343;9535722;9609109;9648831;9651339;9651378;9852124 8660 Q9P084;Q9Y4H2 AB000732;AB050954;ABBA01027004;ABBA01027005;AF073310;AF080254;AF161416;AF288517;AF322114;AF322115;AF385932;AF385933;AL162497;AMYH02028704;AMYH02028705;BC012414;BC026044;BC042858;BC063516;BC110638;CA416129;CA952668;NG_008154;NM_003749 AAD21531;AAD55239;AAF28976;AAG50013;AAK66750;AAK66751;AAK83053;BAA24500;BAB84688;NP_003740;Q9Y4H2 Hs.442344 1646553;1662790;1665727;2159608;5092810 A006G14;D13S1354;G32344;SHGC-36212;WI-11813 IRS-2 OTTHUMP00000018696 1643276;1643297;1643588;2314799 BW200_H;BW204_H;GLUCO116_H;GLUCO4_H APPROVED protein-coding ENSG00000185950 HGNC:6126 02878 125853;600797 REVIEWED 1625835 ISCA1P1 iron-sulfur cluster assembly 1 pseudogene 1 5 5 5 q12.1 59068136 59070104 - 62071203 62073171 - 62775376 62777344 - 20379614;20877624;23897914;24204828 389293 ABBA01048357;AC025477;AMYH02011396;NG_021247 ISCA1L APPROVED pseudo HGNC:33263 INFERRED 1346652 IRX2 iroquois homeobox 2 IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004] 5 5 5 p15.33 2778127 2783618 - 2746279 2751769 - 2746165 2751655 - 1580863;6480464 10370142;11435706;12477932;15133517;16752383;18421076;22210879;8889548 153572 Q9BZI1 AB188492;ABBA01010211;ABBA01010212;ABBA01010213;AC091891;AF319967;AI131378;AI928035;AMYH02010779;AMYH02010780;AY335939;AY335940;BC065189;BM969863;CH471102;NM_001134222;NM_033267 AAH65189;AAK01202;AAQ16545;AAQ16546;BAD37140;EAX08136;NP_001127694;NP_150366;Q9BZI1 Hs.282089 1797754;5017823 C5orf38;IRX2_2363 IRXA2 OTTHUMP00000115435;OTTHUMP00000220684;homeodomain protein IRXA2;iroquois homeobox protein 2;iroquois-class homeodomain protein IRX-2 APPROVED protein-coding ENSG00000170561 HGNC:14359 09368 606198 VALIDATED 733473 IRS1 insulin receptor substrate 1 This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009] 2 2 2 q36 221365560 221433036 - 227596033 227664545 - 226731317 226799829 - 728920;1624973;1624974;1624975;1580863;1580595;1581310;1581313;2302071;6480464;6483015;6483014;6482862;6482864;6482861;6482863;6483016;6483008;6484113;6482860;6907045;7207057;7240710;7207062;7207061;7207063;7207055;7248547;8554872 10591678;10842668;12679424;12850498;14633864;15272025;15316008;15561966;16445997;1648180;19781177;19996384;20846698;21206533;22001674;22476196;22476197;22820932;22942179;22982470;22983684;23055040;7623569 10026153;10082579;10206679;10411883;10417350;10455176;10497255;10660596;10669726;10679027;10722755;10843189;10854852;10856136;11006284;11018022;11035789;11063744;11120660;11147812;11162588;11172806;11208867;11287026;11287630;11289056;11317670;11522686;11579209;11604231;11606564;11694888;11739394;11775217;11781100;11872698;11874945;11877394;11912194;11969417;11978177;12006586;12031982;12107745;12107746;12167717;12173038;12213887;12220227;12228220;12351658;12354757;12358865;12370850;12409308;12414625;12417588;12475767;12477526;12477932;12493740;12510059;12524443;12554758;12560071;12565902;12588284;12606535;12624099;12660731;12730242;12732844;12763374;12765939;12783867;12819898;12821935;12843189;12910680;12933652;12934392;12960006;1311924;1381348;14511371;14559999;14583092;14602724;14604996;14642408;14668342;14671192;14693412;14707024;14966273;14968112;14988278;15001544;15003536;15044323;15069075;15127203;15155816;15161794;15182363;15209769;15222685;15240653;15247132;15308584;15318176;15324660;15364919;15474880;15489334;15514089;15516986;15522123;15561965;15572028;15581831;15582274;15588985;15590636;15592455;15604215;15629149;15634339;15636429;15665022;15678496;15705377;15759454;15778465;15781195;15802620;15849359;15926113;15940190;15965906;15985484;16020478;16030120;16037106;16043515;16084882;16127460;16128672;16129678;16129690;16131083;16230374;16233930;16273093;16284438;16284649;16354680;16367885;16418171;16448675;16489531;16516141;16522427;16582879;16603055;16648810;16734387;16752222;16814735;16914728;16970908;17020651;17030605;17030631;17044098;17046546;17051426;17068339;17075427;17081983;17124363;17179152;17222321;17222824;17276034;17279354;17332342;17360977;17361103;17374994;17416760;17443311;17446166;17459875;17465001;17570749;17575262;17591841;17638892;17640984;17647275;17719609;17721511;17721885;17827156;17827393;17868644;17898946;17905199;17908691;17914103;17925406;18059035;18208559;18216326;18222120;18264722;18285345;18305032;18316360;18398029;18498745;18521741;18611262;18615395;18615538;18642444;18660489;18676680;18710329;18716398;18729074;18834857;18851963;18952604;18992148;18992263;18996102;19035139;19038974;19053277;19117011;19124510;19140314;19170196;19259821;19261680;19328476;19375584;19391107;19418728;19420105;19447894;19453261;19557384;19561084;19578796;19625176;19639489;19671924;19692168;19716569;19730683;19734900;19803812;19843326;19843521;19913121;19924529;19926323;19953087;19956100;20012307;20170352;20176643;20207740;20210696;20229450;20351777;20363874;20384434;20416077;20416304;20437058;20437825;20452482;20453000;20490451;20538960;20540360;20540670;20571754;20581827;20602615;20628086;20634197;20663861;20673868;20682687;20685959;20686565;20730618;20738937;20824664;20855565;20977583;21139048;21204696;21289241;21325637;21353221;21454638;21464990;21465511;21569802;21612394;21645940;21666240;21677657;21700086;21706003;21706016;21832049;21850561;21852217;21917432;21939528;22187946;22205343;22266116;22323484;22348058;22457523;22479202;22523112;22558377;22575725;22576021;22581228;22589738;22617042;22664743;22729394;22759779;22766331;22797928;22824790;22935141;22974441;22994406;23000965;23045529;23048032;23073384;23147115;23201159;23221578;23251408;23353623;23396401;23400783;23418314;23439647;23460019;23478262;23583389;23596181;23604317;23606743;23615405;23659870;23697264;23708959;23720771;23754948;23770097;23818951;23828647;23940030;23965929;24097068;24134599;24250222;24447396;24462868;24550499;24584551;24616100;24654937;24690171;24696264;7488107;7493946;7499194;7499365;7537849;7541045;7542745;7559478;7559507;7782332;7935368;7935386;8020946;8104271;8175658;8240352;8349691;8388384;8491186;8505282;8513971;8524391;8530377;8536716;8550573;8557683;8599766;8621530;8621590;8626379;8626671;8631859;8633037;8662806;8723689;8732688;8776723;8810325;9111084;9174053;9202037;9295312;9312143;9415396;9422753;9492017;9748281;9756938;9792713;9822703;9837978;9843575 3667 P35568 ABBA01050190;AC010735;AMYH02005914;AMYH02005915;AW469017;AX659634;BC053895;CH471063;HC477893;NG_015830;NM_005544;S62539;S85963;XM_005246534;XM_006712512 AAB21608;AAB27175;AAH53895;ACE86532;ACE87211;CAD79961;CBL64020;EAW70838;EAW70839;NP_005535;P35568;XP_005246591;XP_006712575 Hs.471508 1342366;1708378;1744479;1744481;1770859;1772860;1794976;1796130;2130855;2149882;2166541;2183841;2185923;5022695 D2S2389;D2S2647;GDB:456117;GDB:456125;IRS1;IRS1_760;PMC86565P4;RH17903;RH48158;RH68643;RH69408;SHGC-52849;SHGC-82871;WI-18042 HIRS-1;IRS-1 OTTHUMP00000164234 2289299;2289306;2289315;2289332 BW373_H;BW374_H;BW375_H;BW376_H APPROVED protein-coding ENSG00000169047 HGNC:6125 00943 125853;147545 REVIEWED 1320389 IRX5 iroquois homeobox 5 This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 16 16 16 q12.2 39479883 39483213 + 54965111 54968397 + 54931199 54934485 + 1580863;6480464;8699517;7240710;8554872 10370142;11435706;12477932;16527195;17396150;18519790;21546767;22581230 10265 H0YML8;P78411 ABBA01066518;AC106738;AMYH02032070;AY335944;AY335945;BC074850;BC131510;HI574210;NG_032773;NM_001252197;NM_005853;U90304;U90309 AAB50002;AAB50007;AAI31511;AAQ16550;AAQ16551;CBX47594;NP_001239126;NP_005844;P78411 Hs.435730 5492623;5492691 UniSTS:481801;UniSTS:482043 HMMS;IRX-2a;IRXB2 OTTHUMP00000164259;OTTHUMP00000164260;homeodomain protein IRX-2A;homeodomain protein IRXB2;iroquois homeobox protein 5;iroquois-class homeodomain protein IRX-5 APPROVED protein-coding ENSG00000176842 HGNC:14361 08395 606195;611174 REVIEWED 1350652 ISCA1 iron-sulfur cluster assembly 1 ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008] 9 9 9 q21.33 59449572 59467604 - 88879461 88897676 - 86264546 86282575 - 6480464 12477932;14702039;15164053;15262227;15489334;19322201;19656490;19864422;20186120;20302570;20877624;22323289;24217246;24733926;8125298;8619474;9110174 81689 B4DJI5;Q5TBE2;Q5TBE9;Q9BUE6 AA745613;ABBA01016308;ABBA01016309;AF038186;AF284752;AI436792;AK055643;AK225937;AK296093;AL137849;AL834356;AMYH02021153;AMYH02021154;AY015642;BC002675;BC053900;BC071621;BG772866;CH471089;NM_030940 AAG40950;AAG59854;AAH02675;AAH71621;BAG51546;BAG58847;CAD39021;EAW62712;EAW62713;NP_112202;Q9BUE6 Hs.449291 5094050;5113063 G34941;RH66922 HBLD2;ISA1;MGC4276;RP11-507D14.2 HESB like domain containing 2;HESB-like domain-containing protein 2;OTTHUMP00000021590;OTTHUMP00000021592;hIscA;iron sulfur assembly protein IscA;iron-sulfur assembly protein IscA;iron-sulfur cluster assembly 1 homolog, mitochondrial APPROVED protein-coding ENSG00000135070 HGNC:28660 17091 611006 VALIDATED 1344383 IRX6 iroquois homeobox 6 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 16 16 16 q12.2 39872722 39878927 + 55358406 55364672 + 55324494 55330760 + 1580863;6480464;8554872 10370142;11435706;12477932;14702039;22589738;8889548 79190 P78412;Q9BZI2 ABBA01066521;AC109462;AF319966;AK125053;AK309149;AMYH02032073;AMYH02032074;AW449920;AY335937;AY335946;BC136573;BC136576;BM667197;CH471092;JC342799;NM_024335;XM_005256137;XM_005256138 AAI36574;AAI36577;AAK01201;AAQ16543;AAQ16552;BAC86033;CDM63598;EAW82822;EAW82823;NP_077311;P78412;XP_005256194;XP_005256195 Hs.369907 1341621;2108173 D16S489;IRX6_8092 IRX-3;IRX7;IRXB3 homeodomain protein IRXB3;iroquois homeobox protein 1-like;iroquois homeobox protein 6;iroquois homeobox protein 7;iroquois-class homeodomain protein IRX-6 protein-coding HGNC:14675 12091 606196 VALIDATED 2881179 ISCA1P3 iron-sulfur cluster assembly 1 pseudogene 3 17 17 17 q22 49017169 49019142 + 52555068 52557041 + 54477707 54479680 + 100131092 ABBA01041279;AC010767;AMYH02033642;NG_022956 APPROVED pseudo HGNC:38024 INFERRED 2946936 ISCA1P5 iron-sulfur cluster assembly 1 pseudogene 5 19 19 19 p13.11 19843211 19843673 + 19937823 19938285 + 19827014 19827476 + 100288250 ABBA01051343;AC011477;AMYH02035766;NG_023026 APPROVED pseudo HGNC:38026 INFERRED 2881178 ISCA1P2 iron-sulfur cluster assembly 1 pseudogene 2 1 1 1 q42.13 202445289 202445786 + 229177839 229178336 + 229042092 229042589 + 100288517 ABBA01013465;AL137793;AMYH02002863;NG_022828 APPROVED pseudo HGNC:38023 INFERRED 1316613 IRX3 iroquois homeobox 3 IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009] 16 16 16 q12.2 38831683 38834849 - 54317212 54320724 - 54283300 54286812 - 1580863;6480464 10370142;12477932;15489334;19240061;20080751;21546767;24646999;9427753 79191 J3QR11;P78415 ABBA01066503;AC018553;AK309146;AMYH02032056;AY335942;AY335943;BC023667;BC034328;CH471092;NM_024336;U90308;XM_005256139 AAB50006;AAH23667;AAH34328;AAQ16548;AAQ16549;ABM82934;ABW03467;EAW82815;NP_077312;P78415;XP_005256196 Hs.499205 2169493 SHGC-61146 FLJ99187;IRX-1;IRXB1 OTTHUMP00000164257;homeodomain protein IRXB1;iroquois homeobox protein 3;iroquois-class homeodomain protein IRX-1;iroquois-class homeodomain protein IRX-3 APPROVED protein-coding ENSG00000177508 HGNC:14360 17162 612985 VALIDATED 3231816 ISCA2P1 iron-sulfur cluster assembly 2 pseudogene 1 22 22 22 q12.1 10844643 10845092 - 27040851 27041300 - 26644887 26645336 - 23382691 100287193 ABBA01055203;AMYH02038168;NG_029633;Z99774 APPROVED pseudo HGNC:38022 INFERRED 3051017 ISCUP1 iron-sulfur cluster assembly enzyme pseudogene 1 1 1 1 143289956 143290343 - 170180151 170180538 - 170211010 170211397 - 100462833 ABBA01027944;AL445203;AMYH02002120;NG_022742 APPROVED pseudo HGNC:38021 INFERRED 1607067 ISCU iron-sulfur cluster assembly enzyme Iron-sulfur (Fe-S) clusters are necessary for several mitochondrial enzymes and other subcellular compartment proteins. They contain sulfur and iron, and are created via several steps that include cysteine desulfurases, iron donors, chaperones, and scaffold proteins. This gene encodes the two isomeric forms, ISCU1 and ISCU2, of the Fe-S cluster scaffold protein. Mutations in this gene have been found in patients with myopathy with severe exercise intolerance and myoglobinuria. A pseudogene of this gene is present on chromosome 1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] 12 12 12 q24.1 108625685 108632553 + 108955239 108963160 + 108561463 108569384 + 6480464;7240710;8554872;8699517 11060020;11256614;12477932;14702039;15342556;15489334;15778465;16091420;16344560;16517407;16527810;18296749;18304497;18425540;19567699;19808020;20301757;20436681;20498629;20877624;20972266;21139048;21165651;21437321;21801864;21890473;22125086;22897349;22977270;23035118;23449350;23508953;23940031;24573684;24971490;8875867 23479 B1P7G3;B3KQ30;B4DNC9;F5H5N2;F5H672;Q9H1K1 ABBA01053133;AC008119;AK000574;AK022758;AK057251;AK293202;AK297862;AMYH02027155;AY009127;AY009128;BC003522;BC011906;BC061903;BG621612;BG702203;BI597126;BM423850;BM921073;BP378051;BQ002528;BQ020993;BU602914;CH471054;DB095495;DB493673;EU329002;EU334585;FJ695196;NG_011857;NM_001301140;NM_001301141;NM_014301;NM_213595;U47101;XM_005268760;XM_005268761;XM_006719315;XM_006719316;XR_429087 AAC50885;AAG37427;AAG37428;AAH11906;AAH61903;ABM87293;ABW03871;ACA34743;ACA52543;BAG51892;BAG56742;BAG60191;EAW97818;EAW97819;EAW97820;EAW97821;EAW97822;NP_001288069;NP_001288070;NP_055116;NP_998760;Q9H1K1;XP_005268817;XP_005268818;XP_006719378;XP_006719379 Hs.615131 1684662;2182129;5106138;5106140 A005N44;D12S1907;G20365;RH25375 2310020H20Rik;HML;ISU2;MGC74517;NIFU IscU iron-sulfur cluster scaffold homolog;NIFUN;NifU-like N-terminal domain containing;OTTHUMP00000238760;OTTHUMP00000238761;OTTHUMP00000238762;OTTHUMP00000238764;OTTHUMP00000238765;OTTHUMP00000241075;hnifU;iron-sulfur cluster assembly enzyme ISCU, mitochondrial;iron-sulfur cluster scaffold homolog;nifU-like N-terminal domain-containing protein;nifU-like protein;nitrogen fixation cluster-like APPROVED protein-coding ENSG00000136003 HGNC:29882 14828 255125;611911 REVIEWED 3003950 ISCA1P6 iron-sulfur cluster assembly 1 pseudogene 6 2 2 2 q14.3 122581320 122583289 - 129274863 129276832 - 128517289 128519258 - 100130549 ABBA01040164;AC012451;AMYH02004750;NG_023024 APPROVED pseudo HGNC:38027 INFERRED 3563726 ISCA1P4 iron-sulfur cluster assembly 1 pseudogene 4 15 15 15 q15.1 18008559 18009382 - 41240685 41241508 - 40948487 40949310 - 100128012 ABBA01038427;AC020661;AMYH02030256;NG_022952 APPROVED pseudo HGNC:38025 INFERRED 1319589 IRX4 iroquois homeobox 4 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN establishment of organ orientation (inferred); heart development (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Cardiomegaly (ortholog); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; 8'-apo-beta,psi-caroten-8'-al 5 5 5 p15.3 1914716 1920055 - 1877541 1887293 - 1877427 1887179 - 1582289;1580863;6480464 11238910 10370142;10625552;11382777;12477932;18497553;19913121;20628086;21544582;21779381;21906983;22323358 50805 D6RAS8;D6RC00;P78413 AB690778;AB690779;AB690780;AB690781;ABBA01034194;AC025183;AF124733;AI566193;AMYH02010771;AMYH02010772;AY335941;BC110912;BC136505;BC136506;BC144204;CH471102;NM_001278632;NM_001278633;NM_001278634;NM_001278635;NM_016358;U90306;XM_006714476 AAB50004;AAF23887;AAI10913;AAI36506;AAI36507;AAQ16547;BAL44219;BAL44220;BAL44221;BAL44222;EAX08138;EAX08139;NP_001265561;NP_001265562;NP_001265563;NP_001265564;NP_057442;P78413;XP_006714539 Hs.196927 IRXA3;MGC131996 OTTHUMP00000115477;OTTHUMP00000220473;OTTHUMP00000220474;OTTHUMP00000220475;OTTHUMP00000220476;homeodomain protein IRXA3;iroquois homeobox protein 4;iroquois-class homeodomain protein IRX-4;iroquois-class homeodomain protein IRX-4 variant 1;iroquois-class homeodomain protein IRX-4 variant 2;iroquois-class homeodomain protein IRX-4 variant 3;iroquois-class homeodomain protein IRX-4 variant 4 protein-coding ENSG00000113430 HGNC:6129 09369 606199 VALIDATED 1601738 ISG20L2 interferon stimulated exonuclease gene 20kDa-like 2 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); ribosome biogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (S)-colchicine; 17beta-estradiol; adenine 1 1 1 q23.1 129763215 129768507 - 156691687 156698577 - 156721891 156728785 - 6480464;8554872 12429849;12477932;14702039;15489334;16189514;16710414;17474147;18029348;18065403;18976975;19060904 81875 Q9H9L3 ABBA01016649;AK021901;AK022733;AK095697;AL096734;AL590666;AMYH02001978;AX879696;AY391837;BC000575;CH471121;NM_030980;XM_005245516;XM_005245517;XM_005245518;XM_006711560;XM_006711561 AAH00575;AAS55433;BAB14212;CAE90623;EAW52919;EAW52920;NP_112242;Q9H9L3;XP_005245573;XP_005245574;XP_005245575;XP_006711623;XP_006711624 Hs.301904 1692918;1754399;1792866;2160307;5014051;5015404;5015619;5016478;5017266;5020948;5021872;5024413;5037552;5109281;5118444 AL034171;D11S3114;D11S3316;D1S1425;D8S2278;D8S2279;G35510;GDB:434012;L17705;L17877;L18506;PMC166143P5;SHGC-132410;SHGC-30383;sY3084 FLJ12671 OTTHUMP00000038733;OTTHUMP00000038734;interferon-stimulated 20 kDa exonuclease-like 2 protein-coding ENSG00000143319 HGNC:25745 07788 611930 PROVISIONAL 1315002 ISG20 interferon stimulated exonuclease gene 20kDa ENCODES a protein that exhibits 3'-5'-exoribonuclease activity; exonuclease activity; single-stranded DNA 3'-5' exodeoxyribonuclease activity; INVOLVED IN defense response to virus; DNA catabolic process, exonucleolytic; negative regulation of viral genome replication; FOUND IN Cajal body; cytoplasm; nucleolus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 15 15 15 q26 65582927 65599957 + 89178904 89198881 + 88635637 88655650 + 6480464 11401564;12477932;12539042;12594219;14702039;15489334;15527770;16514659;18278447;21036379;21732829;21963094;22647704;23251661;23830076;25015289;9235947;9569007;9605874 3669 H0YMM4;H3BLY5;Q96AZ6 AB209639;ABBA01053000;ABBA01053001;AC104259;AK122793;AK307769;AMYH02031006;AMYH02031007;AMYH02031008;BC007922;BC016341;BT006952;CH471101;CR456942;NM_002201;U88964;X89773;XM_005254899;XM_005254900;XM_006720488;XM_006720489;XM_006720490 AAB53416;AAH07922;AAH16341;AAP35598;BAD92876;CAA61915;CAG33223;EAX02013;EAX02014;EAX02015;EAX02016;NP_002192;Q96AZ6;XP_005254956;XP_005254957;XP_006720551;XP_006720552;XP_006720553 Hs.459265 5113936 RH93344 CD25;HEM45 OTTHUMP00000192918;estrogen-regulated transcript 45 protein;interferon-stimulated gene 20 kDa protein;promyelocytic leukemia nuclear body-associated protein ISG20 protein-coding ENSG00000172183 HGNC:6130 05169 604533 PROVISIONAL 1605977 ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2 INVOLVED IN positive regulation of axon extension (ortholog); FOUND IN cell surface (ortholog); INTERACTS WITH all-trans-retinoic acid; hydrogen peroxide; thapsigargin 15 15 15 q24.1 51368842 51376270 + 74420544 74429143 + 74129374 74136802 + 6480464 10819331;12477932;12975309;14702039;16344560 57611 H3BM69;H3BM95;H3BNZ6;Q6UXK2 AB040898;ABBA01060483;AC010931;AK092297;AK092302;AK096602;AK290467;AMYH02030787;AY358316;BC028042;BC114551;BC152429;BI917487;CH471136;DA791954;DA911394;NM_001130136;NM_001130137;NM_001130138;NM_020851 AAI14552;AAI52430;AAI69327;AAQ88682;BAA95989;BAF83156;BAG52525;BAG52527;BAG53336;EAW99359;EAW99360;EAW99361;NP_001123608;NP_001123609;NP_001123610;NP_065902;Q6UXK2 Hs.254775 5015619 D11S3114 KIAA1465;LINX OTTHUMP00000174969;immunoglobulin superfamily containing leucine-rich repeat protein 2;leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein protein-coding ENSG00000167178 HGNC:29286 13865 614179 VALIDATED 736062 ISL1 ISL LIM homeobox 1 This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008] 5 5 5 q11.1 47625609 47637216 + 50678958 50690564 + 51383124 51394730 + 2311117;2311116;6480464 11978668;15161765 10431247;11043578;11882901;12477932;15489334;15839736;15843409;16321656;16713999;1685766;16873704;17022998;17363077;17519333;18081024;18239644;18454440;18583962;19571884;19619559;19896915;20211142;20306291;20520780;20807224;21060249;21145461;21739268;21832049;21988832;22094256;22194342;22303449;22388755;22480195;23152444;23229290;23259602;23348208;23436614;23455924;23503646;23572340;24018375;24037217;24131831;24674670;24845569;7789634;7907017;7912209;8565076;8889548;9000074;9452425;9849969 3670 D6RBJ1;P61371 ABBA01015707;AC010478;AK290742;AMYH02011283;BC017027;BC031213;BM680522;CH471123;NG_023040;NM_002202;S70721;U07559 AAA81946;AAD14064;AAH31213;ABM82484;ABM85672;ABW03420;BAF83431;EAW54861;NP_002193;P61371 Hs.505 1743967;1781106;2106527;5494189;7186231 D10Bir8;D5S2482;GDB:383820;ISL1__6479 ISLET1;Isl-1 ISL1 transcription factor, LIM/homeodomain;OTTHUMP00000221832;OTTHUMP00000221833;OTTHUMP00000221834;OTTHUMP00000221965;insulin gene enhancer protein ISL-1;isl1 transcription factor, lim/homeodomain 1;islet-1 2289466 SLEP14_H APPROVED protein-coding ENSG00000016082 HGNC:6132 02650 600366 REVIEWED 1602010 ISLR immunoglobulin superfamily containing leucine-rich repeat INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; carmustine; isotretinoin 15 15 15 q23-q24 51413268 51416393 + 74466087 74469212 + 74173746 74176871 + 6480464;8554872 10512678;12477932;12975309;8125298;9325048 3671 H0YL90;H0YN67;O14498 AB003184;AB024536;AB024537;ABBA01060485;AC023545;AK000817;AK074668;AK223267;AK225606;AMYH02030788;AY358871;BC022478;BC111013;CH471136;CQ783558;NM_005545;NM_201526 AAH22478;AAI11014;AAQ89230;ABW03309;ABW03651;ABW03652;BAA22848;BAA85970;BAA85971;BAD96987;BAG51985;CAF86725;EAW99357;EAW99358;NP_005536;NP_958934;O14498 Hs.699822;Hs.745166 1655004;1777567 Bdy23b10;STS-Z38345 HsT17563;MGC102816 OTTHUMP00000174967;OTTHUMP00000174968;immunoglobulin superfamily containing leucine-rich repeat protein protein-coding ENSG00000129009 HGNC:6133 03636 602059 VALIDATED 1603577 ISM2 isthmin 2 The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009] 14 14 14 q24.3 57979296 58003790 - 77940737 77965210 - 77474394 77498867 - 6480464;8554872 12477932;14702039;15194193;16303743;16344560;18029348;7687569 145501 G3V2Q2;H7C4M8;H7C5B3;Q6H9L7 ABBA01030647;AF111168;AJ583024;AK056709;AK075445;AK291600;AK300214;AMYH02029572;AMYH02029573;AMYH02029574;BC033140;BC101019;BC101020;BC101021;BC101022;BX248277;BX248280;BX248770;BX248771;CH471061;CR749863;DB025298;HC007338;NM_182509;NM_199296;R93324 AAD09622;AAH33140;AAI01020;AAI01021;AAI01022;AAI01023;BAC11626;BAF84289;BAG51795;BAG61982;CAD62605;CAD62608;CAD66577;CAD66578;CAE47313;CAH18707;CBH19474;EAW81293;EAW81294;EAW81295;EAW81296;NP_872315;NP_954993;Q6H9L7 Hs.29742 1649048;1651885;2147625 G35758;RH70052;WI-17934 DKFZp686E0215;FLJ32147;MGC119416;TAIL1;THSD3 OTTHUMP00000213070;OTTHUMP00000213072;isthmin 2 homolog;isthmin-2;thrombospondin and AMOP containing isthmin-like 1;thrombospondin and AMOP domain-containing isthmin-like protein 1;thrombospondin type-1 domain-containing protein 3;thrombospondin, type I domain-containing 3;thrombospondin, type I, domain containing 3 APPROVED protein-coding ENSG00000100593 HGNC:23176 18182 612684 REVIEWED 1319881 ISCA2 iron-sulfur cluster assembly 2 The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 14 14 14 q24.3 54998835 55000656 + 74960423 74962271 + 74493720 74495568 + 6480464 12477932;15489334;19913121;20628086;20877624;22323289;24733926 122961 J3QSS7;Q86U28 ABBA01030717;AC005479;AK290728;AMYH02029519;BC015771;BC032893;BX114918;BX248252;CH471061;DB501282;NG_007117;NG_033074;NM_001272007;NM_194279 AAH15771;AAH32893;ADZ16099;BAF83417;CAD62580;EAW81179;EAW81180;NP_001258936;NP_919255;Q86U28 Hs.291079 1677971 RH65075 HBLD1;ISA2;c14_5557 HESB-like domain-containing protein 1;OTTHUMP00000245460;OTTHUMP00000245461;OTTHUMP00000245462;iron-sulfur cluster assembly 2 homolog, mitochondrial APPROVED protein-coding HGNC:19857 17090 615317 REVIEWED 1347473 ISOC1 isochorismatase domain containing 1 ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN extracellular vesicular exosome; peroxisome (ortholog); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; cobalt dichloride 5 5 5 q22.1-q33.3 124561590 124580869 + 128430442 128449721 + 129094749 129114028 + 737633;6480464 12477932 10810093;14561759;15489334;18566572;19322201;21139048;22863883;24250222 51015 D6RGE2;Q96CN7 ABBA01068858;ABBA01068859;AC008679;AF151869;AK025787;AMYH02012174;BC008367;BC014105;BG715081;CH471062;NM_016048 AAD34106;AAH08367;AAH14105;ABM83152;ABM86353;EAW62386;NP_057132;Q96CN7 Hs.483296 1754711;1849940;1849942;2145092 A001U39;G19670;SHGC-133073;SHGC-64018 CGI-111 OTTHUMP00000223219;OTTHUMP00000223221;isochorismatase domain-containing protein 1 protein-coding ENSG00000066583 HGNC:24254 VALIDATED 732662 ISL2 ISL LIM homeobox 2 ENCODES a protein that exhibits DNA binding (ortholog); INVOLVED IN negative regulation of neuron differentiation (inferred); neuron development (inferred); peripheral nervous system neuron development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenous acid; benzo[a]pyrene 15 15 15 q23 53555368 53561037 + 76629065 76634817 + 76336806 76342475 + 1580863;6480464;8554872 12477932;14702039;15302935;15489334;17091338;21139048;21145461;21190559;21697133;9452425 64843 H0YN25;Q96A47 AB593133;ABBA01060550;AC027243;AK001022;AMYH02030833;BC011967;BC012136;CH471136;NM_145805 AAH11967;AAH12136;ABZ92375;BAG50849;BAJ84073;EAW99220;NP_665804;Q96A47 Hs.444677 1646176;1687195 G09837;RH92851 FLJ10160 ISL2 transcription factor, LIM/homeodomain, (islet-2);OTTHUMP00000184891;insulin gene enhancer protein ISL-2;islet-2 protein-coding ENSG00000159556 HGNC:18524 11053 609481 PROVISIONAL 1321144 ISG15 ISG15 ubiquitin-like modifier The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012] 1 1 1 p36.33 1639488 1640561 - 948847 949920 + 1013467 1014540 + 1580863;5490977;6480464;6907045 20973890 10476939;10508226;10866800;11157743;11788588;12055236;12067988;12477932;12539042;1373138;14976209;15131269;15489334;15670748;15684817;15917233;16009940;16112642;16122702;16139798;16169070;16189514;16254333;16424026;16428300;16434471;16641915;16815975;16872604;16884686;1695131;17069755;17097911;17222803;17289916;17353931;17653289;17692280;17719635;18057259;18287095;18305167;18356159;18566215;18583345;18597038;18606809;18627608;18953482;19043203;19073728;19074853;19357168;19378789;19430494;19656964;19694548;19846672;19913121;19956859;19959962;20035788;2005397;20093371;20133869;20157543;20164219;20219937;20308324;20542004;20581239;20628086;20628624;20639253;20946978;20975683;21139048;21245344;21298066;21399617;21544738;21757684;21808041;21906983;21994560;22093708;22100648;22185919;22405323;22647704;22693631;22706304;22729740;22740306;22762019;22859821;22939629;23212917;23229543;23318454;23588721;23750257;23824909;24024201;24056783;24237697;24257616;24300530;24386835;2440890;24768535;2477469;24992036;25015289;3087979;3350799;3476954;7490683;7526157;8550581;8889548;8892645 9636 P05161 ABBA01016008;AL645608;AMYH02000073;AY168648;BC009507;BM712238;BT007297;BU161226;CH471183;M13755;M21786;NG_033033;NM_005101 AAA36038;AAA36128;AAH09507;AAN86983;AAP35961;ABM83640;ABW03539;EAW56295;NP_005092;P05161 Hs.458485 1665840;1682411;1688291;1725565;1792022;1794908;2165851 G62009;PMC135632P2;PMC84353P2;RH66824;RH80369;SHGC-74084;SHGC-74128 G1P2;IFI15;IP17;UCRP;hUCRP OTTHUMP00000038464;interferon, alpha-inducible protein (clone IFI-15K);interferon-induced 15 kDa protein;interferon-induced 17 kDa protein;interferon-induced 17-kDa/15-kDa protein;interferon-stimulated protein, 15 kDa;ubiquitin cross-reactive protein;ubiquitin-like protein ISG15 APPROVED protein-coding ENSG00000187608 HGNC:4053 00958 147571 REVIEWED 1350867 ISOC2 isochorismatase domain containing 2 ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN protein destabilization; FOUND IN cytoplasm; nucleus; INTERACTS WITH 3-methylcholanthrene; benzo[a]pyrene; copper(2+) sulfate 19 19 19 q13.42 53004437 53013142 - 55964345 55973070 - 55452978 55461694 - 737633;6480464 12477932 14702039;14718380;15231747;15342556;15489334;16169070;17207965;17658461;21832049;21890473;21906983;23874603 79763 K7EKW4;K7ENV7;Q96AB3 ABBA01020871;AC008735;AC135592;AK027122;AK131324;AK311540;AMYH02036467;AY207046;BC017344;BP226043;CH471135;CR457377;CS072409;CS463826;JB275309;NM_001136201;NM_001136202;NM_024710;XM_005259265 AAH17344;ADQ33205;BAB15666;BAD18484;CAG33658;CAI93547;CAM12696;CDH92520;EAW72379;EAW72380;EAW72381;EAW72382;EAW72383;NP_001129673;NP_001129674;NP_078986;Q96AB3;XP_005259322 Hs.467306 1679431;1728949 D10Bir17;RH98724 FLJ18582 isochorismatase domain-containing protein 2, mitochondrial protein-coding ENSG00000063241 HGNC:26278 08030 612928 VALIDATED 1351413 ISM1 isthmin 1, angiogenesis inhibitor FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP 20 20 20 p12.1 13272473 13351368 + 13202418 13281297 + 13221771 13300650 + 6480464 11780052;12128218;12477932;15489334;16344560;19915575;21544092;23333304;23934736 140862 B1AKI9 ABBA01053961;ABBA01053962;AK307409;AL050320;AL133463;AMYH02036719;BC017997;BQ771595;CR982468;DB169194;DB202450;NM_080826 AAH17997;B1AKI9;NP_543016 Hs.559353 1659684;1764453;2168797 SHGC-148053;WI-15703;Z94575 C20orf82;ISM;bA149I18.1;dJ1077I2.1 Isthmin;OTTHUMP00000030295;isthmin 1 homolog;isthmin-1 APPROVED protein-coding ENSG00000101230 HGNC:16213 615793 VALIDATED 1605896 ISX intestine-specific homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008] 22 22 22 q12.3 19264831 19286082 + 35462130 35483380 + 35066137 35087387 + 6480464;8554872 12477932;18093975;22939624;23221382;23314748;23393141 91464 Q2M1V0 AB219123;ABBA01055411;AK025181;AL024494;AMYH02038299;BC112212;BC113633;CH471095;CR749372;NM_001008494;Z83853 AAI12213;AAI13634;ACE86874;ACE87562;ADR82886;BAG12059;CAH18225;EAW60047;NP_001008494;Q2M1V0 Hs.567637 1691236;1733252;5037552 D22S616;D8S2279;RH79673 DKFZp781N2395;MGC138417;Pix-1;RAXLX OTTHUMP00000198815;OTTHUMP00000198816;RAX-like homeobox;pancreas-intestine homeodomain transcription factor APPROVED protein-coding ENSG00000175329 HGNC:28084 17957 612019 VALIDATED 1606526 ISY1 ISY1 splicing factor homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA splicing, via spliceosome (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN catalytic step 2 spliceosome; INTERACTS WITH 2-methylcholine; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 3 3 3 q21.3 127279847 127296403 - 128846259 128880409 - 129127416 129161230 - 6480464;6907045 10574461;11991638;12477932;14702039;15489334;16103217;16159877;18029348;19471022;22365833;22939629;24457600;24816145 57461 A8MVI5;D6RC18;H0YA89;Q9ULR0 ABBA01020928;ABBA01020929;AC108673;AK024035;AMYH02007632;AMYH02007633;BC004122;BC004442;BC007409;BC019849;BG282120;NM_001199469;NM_020701 AAH04442;AAH07409;AAH19849;NP_001186398;NP_065752;Q9ULR0 Hs.512661 2134707 STS-T59511 KIAA1160;fSAP33 OTTHUMP00000174311;OTTHUMP00000174312;OTTHUMP00000219427;OTTHUMP00000224506;functional spliceosome-associated protein 33;pre-mRNA-splicing factor ISY1 homolog protein-coding ENSG00000240682 HGNC:29201 13834 612764 VALIDATED 1605407 IST1 increased sodium tolerance 1 homolog (yeast) This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 16 16 16 q22.2 56243371 56276822 + 71928311 71964542 + 71894408 71930639 + 6480464 10942595;12477932;12761501;14702039;15489334;15592455;16189514;16344560;16713569;17207965;18951430;19001597;19001599;19056867;19129479;19129480;19477918;19525971;19738201;20719964;20849418;21139048;21439932;21616915;21674799;21706489;21890473;21906983;21963094;22340600;22505724;22623428;22863883;22939629;23000965;23609236;23649269;23897888;24403489;24816145;8724849 9798 B4DXC9;E9PF00;F5GXM3;H3BMU1;H3BPP6;H3BQ38;H3BQF7;H3BRE2;H3BUI0;J3KR23;J3QQP8;P53990 AB097052;ABBA01016791;ABBA01016792;AC009127;AK057902;AK291388;AK293022;AK293040;AK295066;AK297088;AK297336;AK301918;AL355695;AMYH02032329;BC000116;BC000430;BC004359;BC038350;BC103745;BX364250;CH471166;CQ834562;CQ834564;CQ834566;D79996;DA332434;DA698420;NM_001270975;NM_001270976;NM_001270977;NM_001270978;NM_001270979;NM_014761 AAH00116;AAH00430;AAH04359;AAI03746;ADQ32167;BAA11491;BAC77405;BAF84077;BAF85711;BAF85729;BAG58114;BAG59603;BAG59792;BAG63341;CAH05496;CAH05497;CAH05498;EAW59205;EAW59206;EAW59207;EAW59208;EAW59209;NP_001257904;NP_001257905;NP_001257906;NP_001257907;NP_001257908;NP_055576;P53990 Hs.232194 1648169;1676085;1739903;2119044;2164203;5113878;5117172 D16S2946;D19S846;GDB:451592;NIB727;RH25390;RH91143;SHGC-60641 KIAA0174;MGC117220;OLC1;hIST1 IST1 homolog;OTTHUMP00000174931;OTTHUMP00000174932;OTTHUMP00000238707;OTTHUMP00000238709;increased sodium tolerance-1;overexpressed in lung cancer 1;putative MAPK-activating protein PM28 APPROVED protein-coding ENSG00000182149 HGNC:28977 13784 REVIEWED 5507896 ISY1-RAB43 ISY1-RAB43 readthrough This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011] 3 3 q 128806412 128880073 - 129087569 129161230 - 6480464 10574461;20967262 100534599 Q9ULR0 AB032986;ABBA01020924;ABBA01020925;ABBA01020926;ABBA01020927;ABBA01020928;ABBA01020929;AC108673;AMYH02007629;AMYH02007630;AMYH02007631;AMYH02007632;AMYH02007633;NM_001204890 BAA86474;NP_001191819 Hs.512661 KIAA1160 OTTHUMP00000219427 protein-coding ENSG00000240682;ENSG00000261796 HGNC:42969 VALIDATED 6893223 ISM1-AS1 ISM1 antisense RNA 1 20 20 20 13288117 13290371 - 13218067 13220334 - 13237420 13239687 - 12477932 100505536 ABBA01053961;AL050320;AMYH02036719;BC038745;BX092222;DB453950;HG511203;NR_040043 Hs.665253 1659684 Z94575 RP5-1077I2.4 ncrna HGNC:44313 VALIDATED 1605077 ISYNA1 inositol-3-phosphate synthase 1 This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011] 19 19 19 p13.11 18447020 18450933 - 18545198 18549111 - 18434388 18438649 - 6480464;6907045 12477932;12941308;14702039;15024000;15464731;16169070;16344560;21044950;21139048;21890473;21906983;21988832;22707096;23535729;23902760 51477 B7Z3K3;J3KRH4;J3QKW9;J3QLD7;J3QRH1;J3QRY0;J3QS51;Q9NPH2 ABBA01051263;AC008397;AF086921;AF207640;AF220259;AF220530;AI983065;AK001325;AK021526;AK092179;AK092433;AK093461;AK296022;AL137749;AMYH02035732;BC004320;BC018952;BC066902;BP392170;CH471106;DA615868;DB056699;DB244754;DC371373;NG_031809;NM_001170938;NM_001253389;NM_016368;NR_045573;NR_045574;XM_006722766 AAF26444;AAF26739;AAG35698;AAH04320;AAH18952;AAH66902;AAP97151;ABM84391;ABM87335;BAA91626;BAB13837;BAG52493;BAG52722;BAH12239;CAB70904;EAW84703;EAW84704;EAW84705;EAW84706;NP_001164409;NP_001240318;NP_057452;Q9NPH2;XP_006722829 Hs.405873 1651707;2130290;2153237;2155768 A007B29;G30241;STS-H90390;STS-N90320 INO1;INOS;IPS;IPS 1;IPS-1;hINO1;hIPS MI-1-P synthase;MIP synthase;myo-inositol 1-phosphate synthase A1;myo-inositol-1-phosphate synthase APPROVED protein-coding ENSG00000105655 HGNC:29821 17163 611670 REVIEWED 7248038 ISPD-AS1 ISPD antisense RNA 1 ASSOCIATED WITH MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (inferred) 7 7 7 16256663 16289981 + 16250111 16310229 + 16210486 16270604 + 8554872 12477932 100506025 ABBA01056629;AC004741;AC073629;AMYH02015296;AMYH02015297;AMYH02015298;BC034288;BC047638;BX115602;CH236948;DB462496;HG500026;HG500029;NG_032690;NR_038946;NR_038947 Hs.649029 AC004741.3 ncrna ENSG00000229688 HGNC:48962 VALIDATED 8661463 ISX-AS1 ISX antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 22 22 q12.3 35318599 35468882 - 34922609 35072889 - 8554872 23319000 101926957 ABBA01055410;ABBA01055411;AL024494;AMYH02038299;BX537993;KF457427;KF510595;KF510598;KF510599;KF510600;KF511448;XR_244424;XR_249039;XR_254083;Z82194;Z83853 Hs.722607 ncrna HGNC:41188 MODEL 6481131 ITCH-IT1 ITCH intronic transcript 1 (non-protein coding) q11.22 10737800 100874302 AL109923;BF990920 Hs.679020 ncrna HGNC:41397 1343086 ITCH itchy E3 ubiquitin protein ligase This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 20 20 20 q11.22 29700532 29848669 + 32951041 33099198 + 34363235 34515451 + 6480464;6484113;6907045;7240710;7800734;7800735;8699517;8554872 21119682;23312890 10940313;11046148;11244092;11318614;11356981;11526121;11724934;11748237;11780052;11782481;11826757;12223491;12226085;12450395;12477932;12682059;14559117;14602072;14684745;15013426;15051726;15252135;15350225;15469925;15489334;15678106;15703212;15778465;15946939;16051665;16055720;16387660;16446428;16888620;16901904;16908849;17013377;17028573;17038327;17110928;17110958;17115028;17174309;17437719;17463226;17592138;17652093;17719543;17947233;18029348;18246070;18278048;18334649;18544533;18559494;18628966;18701449;18718448;18718449;18805400;19001863;19016753;19073138;19090833;19096009;19116316;19131965;19307600;19322201;19341794;19343052;19478092;19580544;19592251;19615732;19737936;19765186;19806201;19808964;19818398;19881509;19946888;20068034;20143240;20170897;20300110;20392206;20395198;20484045;20491914;20504295;20522958;20639865;20650893;20676133;20682038;20818436;20855944;20972266;21093410;21107885;21135252;21139048;21145461;21191027;21212414;21326863;21383157;21474069;21572392;21724848;21863240;21890473;21903422;21906983;21936852;21963094;21987572;22009753;22053931;22057290;22275353;22385262;22496338;22505724;22507528;22773947;22778262;22826439;22935697;23000965;23039885;23071112;23236378;23253940;23255053;23255161;23287719;23370280;23435430;23538446;23564455;23644597;23886940;24101513;24101521;24489825;24550385;24790097;24797263;24850914;24865853;25092867;9462742;9647693 83737 Q96J02 AA730741;AB056663;AB209747;ABBA01019192;ABBA01019193;ABBA01019194;ABBA01019195;ABBA01019196;ABBA01019197;ABBA01019198;ABBA01019199;ABBA01019200;ABBA01019201;AF038564;AF095745;AK297809;AK304090;AK315212;AL109923;AL356299;AL705688;AMYH02036975;AMYH02036976;AMYH02036977;AMYH02036978;AMYH02036979;AMYH02036980;BC006848;BC011571;CH471077;DC307047;KF511300;NG_023206;NM_001257137;NM_001257138;NM_031483;XM_005260570;XM_006723881;XM_006723882;XR_244153;XR_430315 AAC04845;AAH06848;AAH11571;AAK39399;BAB39389;BAD92984;BAG37647;BAG60147;BAG64996;EAW76272;EAW76273;EAW76274;EAW76275;EAW76276;EAW76277;EAW76278;NP_001244066;NP_001244067;NP_113671;Q96J02;XP_005260627;XP_006723944;XP_006723945 Hs.632272 1653886;1690268;1693422;2128236;2128698;2217496 A007H06;AL034523;D20S498;ITCH_3687;RH67935;Z94419 ADMFD;AIF4;AIP4;NAPP1;dJ468O1.1 E3 ubiquitin-protein ligase Itchy homolog;NFE2-associated polypeptide 1;OTTHUMP00000030688;OTTHUMP00000030689;atrophin-1 interacting protein 4;atrophin-1-interacting protein 4;dJ468O1.1 (atrophin 1 interacting protein 4 (AIP4));itchy E3 ubiquitin protein ligase homolog;itchy homolog E3 ubiquitin protein ligase;ubiquitin protein ligase ITCH APPROVED protein-coding ENSG00000078747 HGNC:13890 606409;613385 REVIEWED 1603635 ITFG2 integrin alpha FG-GAP repeat containing 2 INVOLVED IN germinal center B cell differentiation (inferred); FOUND IN cytosol (inferred); nucleoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); cyclosporin A (ortholog) 12 12 12 p13.33 4535723 4548173 + 2921716 2934237 + 2812621 2830354 + 6480464 12477932;16169070;17353931;24250222 55846 F5H1D0;H0YFM4;H0YFS4;H0YG72;H0YGR0;Q969R8 ABBA01048800;AC005841;AF220048;AK027483;AK130319;AK291110;AK297189;AK300905;AMYH02025885;AY599883;BC006552;BC013399;BI261823;BQ003916;BQ058412;CH471116;NM_018463;XM_005253707;XM_005253708;XM_005253709;XR_429017 AAF67641;AAH06552;AAH13399;AAT09136;ABM83637;ABM86889;BAB55145;BAF83799;BAG59678;BAG62541;EAW88886;EAW88887;NP_060933;Q969R8;XP_005253764;XP_005253765;XP_005253766 Hs.446098;Hs.448720 1645289;1648494;2217596 MDS028_3609;RH17481;SHGC-34277 MDS028 OTTHUMP00000161190;integrin-alpha FG-GAP repeat-containing protein 2 protein-coding ENSG00000111203 HGNC:30879 14379 VALIDATED 1313014 ITGA10 integrin, alpha 10 Integrins are integral membrane proteins composed of an alpha chain and a beta chain, and are known to participate in cell adhesion as well as cell-surface mediated signalling. The I-domain containing alpha 10 combines with the integrin beta 1 chain (ITGB1) to form a novel collagen type II-binding integrin expressed in cartilage tissue. [provided by RefSeq, Jul 2008] 1 1 1 q21 119728358 119747240 + 145524709 145543868 + 145891208 145910371 - 1358329;1580863;6480464;6907045;5135538;8554872 12297042;17543136 10702680;11731273;12477932;12975309;15713743;16684505;9359872;9685391;9822998 8515 O75578 ABBA01005742;AC243547;AF074015;AF112345;AF172723;AK304155;AK304183;AK314255;AL160282;AY358325;BC140831;BC144637;CH471244;NM_003637;XM_005277432;XM_005277433;XM_005277434;XM_005277435;XM_005277436;XM_006711596;XR_254331 AAC31952;AAF21944;AAF61638;AAI40832;AAI44638;AAI60008;AAQ88691;BAG36921;BAG65044;BAG65063;EAW71424;EAW71425;NP_003628;O75578;XP_005277489;XP_005277490;XP_005277491;XP_005277492;XP_005277493;XP_006711659 Hs.158237 1338762;1661719;1770952;1795210;5020948 D1S2344;G35510;PEX11B_1032;SHGC-75410;WI-18366 PRO827 OTTHUMP00000015588;integrin alpha-10 APPROVED protein-coding ENSG00000143127 HGNC:6135 04952 604042 REVIEWED 3160581 ISPD isoprenoid synthase domain containing This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 7 7 7 p21.2 16106872 16440699 - 16127152 16460947 - 16087527 16421322 - 6480464;8699517;7240710;8554872 10737800;11181995;12690205;19913121;20301468;20379614;20628086;2252242;22522420;22522421;23151678;23217329;23288328;23390185;9847074 729920 A4D126;Q6ZVA8 ABBA01056627;ABBA01056628;ABBA01056629;AC004741;AC006035;AC073629;AC079155;AK124805;AMYH02015294;AMYH02015295;AMYH02015296;AMYH02015297;AMYH02015298;AMYH02015299;AMYH02015300;AMYH02015301;AMYH02015302;AMYH02015303;BE092109;CH236948;CH471073;DT932748;DY654823;HG500025;KF458390;NG_032690;NM_001101417;NM_001101426;XM_006715770 A4D126;BAC85954;EAL24288;EAW93668;NP_001094887;NP_001094896;XP_006715833 Hs.636502 1676540;1677594;1693306;1704456;1724861;1751161;1789130;2143339;2149846;2165512;2169010;2187076;5015881;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;G42357;G65701;GDB:1317458;GDB:1317788;GDB:1318026;GDB:335751;RH119193;RH48528;RH79611;RH93972;SHGC-105041;SHGC-58155;SHGC-82972 FLJ42815;MDDGA7;MDDGC7;Nip;RP11-196O16.1;hCG_1745121 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein;4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog;OTTHUMP00000201687;OTTHUMP00000201709;isoprenoid synthase domain-containing protein;notch1-induced protein APPROVED protein-coding HGNC:37276 614631;614643;616052 REVIEWED 1345598 ITFG3 integrin alpha FG-GAP repeat containing 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN cell surface; extracellular vesicular exosome; INTERACTS WITH paracetamol; 2,2',5,5'-tetrachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 483684 516021 + 284758 318960 + 234546 269943 + 6480464;8554872 11076863;11157797;11230166;12477932;14702039;15146197;15489334;15489336;16381901;17342744;19349973;19862010;20139978;20379614;21906983;21963094;22268729;23000965;23446634;23696099;9054936 83986 B4DGG1;C9IYB9;C9J1M4;C9J3Y6;C9J8V3;C9JJN3;C9JP72;C9JR71;C9JTF7;C9K0C5;H7C2U8;H7C3L6;Q9H0X4 ABBA01030381;ABBA01030382;ABBA01030383;AC004754;AE006462;AK057165;AK294581;AK310766;AL136542;AMYH02031183;AMYH02031184;AMYH02031185;AW472870;BC009214;BC010521;BC013047;BC032112;CH471112;CN262982;NM_001284497;NM_032039;NR_104317;XM_005255622;XM_005255623;XM_006720956;XM_006720957 AAH10521;AAH13047;AAH32112;AAK61219;AAK61220;BAB71374;BAG57772;CAB66477;CAL38523;EAW85844;EAW85845;EAW85846;EAW85847;EAW85848;EAW85849;NP_001271426;NP_114428;Q9H0X4;XP_005255679;XP_005255680;XP_006721019;XP_006721020 Hs.513225 1708256;1739875;1801376;1801378;1802122;1802186;1802544;1803458;1808020;1808736;1810122;1810922;1811228;1816548;1826164;1827044;1831928;1836408;1837304;1840006;1840790;1841196;1844034;2048096;2048098;2048100;2048102;2048104;2048106;2048108;2048110;2048112;2048114;2048116;2048118;2048120;2048122;2048124;2048126;2048128;2048130;2048132;2048134;2048136;2048138;2048140;2048142;2048144;2048146;2048148;2048150;2048152;2048154;2048156;2048158;2048160;2048162;2048164;2048166;2048168;2048170;2048172;2048174;2048176;2048178;2048180;2048182;2048184;2048186;2048188;2048190;2048192;2048194;2048196;2048198;2048200;2048202;2048204;2048206;2048208;2048210;2048212;2048214;2048216;2048218;2048220;2048222;2048224;2048226;2048228;2048230;2048232;2048234;2048236;2048238;2048240;2048242;2048244;2048246;2048248;2048250;2048252;2048254;2048256;2048258;2048260;2048262;2048264;2048266;2048268;2048270;2048272;2048274;2048276;2048278;2048280;2048282;2048284;2048286;2048288;2048290;2048292;2048294;2048296;2048298;2048300;2048302;2048304;2048306;2048308;2048310;2048312;2048314;2048316;2048318;2048320;2048322;2048324;2048326;2048328;2048330;2048332;2048334;2048336;2048338;2048340;2048342;2048344;2048346;2048348;2048350;2104528;2104530;2104532;2104534;2104536;2104538;2104540;2104542;2104544;2104546;2104548;2104550;2104552;2104554;2104556;2104558;2104560;2104562;2104564;2183243 D16S3006;ECD01561;ECD01562;ECD01943;ECD01976;ECD02159;ECD02626;ECD04988;ECD05350;ECD06053;ECD06459;ECD06612;ECD09316;ECD14192;ECD14637;ECD17102;ECD19366;ECD19819;ECD21187;ECD21586;ECD21793;ECD23230;REN95185;REN95186;REN95187;REN95188;REN95189;REN95190;REN95191;REN95192;REN95193;REN95194;REN95195;REN95196;REN95197;REN95198;REN95199;REN95200;REN95201;REN95202;REN95203;REN95204;REN95205;REN95206;REN95207;REN95208;REN95209;REN95210;REN95211;REN95212;REN95213;REN95214;REN95215;REN95216;REN95217;REN95218;REN95219;REN95220;REN95221;REN95222;REN95223;REN95224;REN95225;REN95226;REN95227;REN95228;REN95229;REN95230;REN95231;REN95232;REN95233;REN95234;REN95235;REN95236;REN95237;REN95238;REN95239;REN95240;REN95241;REN95242;REN95243;REN95244;REN95245;REN95246;REN95247;REN95248;REN95249;REN95250;REN95251;REN95252;REN95253;REN95254;REN95255;REN95256;REN95257;REN95258;REN95259;REN95260;REN95261;REN95262;REN95263;REN95264;REN95265;REN95266;REN95267;REN95268;REN95269;REN95270;REN95271;REN95272;REN95273;REN95274;REN95275;REN95276;REN95277;REN95278;REN95279;REN95280;REN95281;REN95282;REN95283;REN95284;REN95285;REN95286;REN95287;REN95288;REN95289;REN95290;REN95291;REN95292;REN95293;REN95294;REN95295;REN95296;REN95297;REN95298;REN95299;REN95300;REN95301;REN95302;REN95303;REN95304;REN95305;REN95306;REN95307;REN95308;REN95309;REN95310;REN95311;REN95312;RH11805;SHGC-79391;stSG608966;stSG608969;stSG608971;stSG608972;stSG608973;stSG608975;stSG608976;stSG608977;stSG608978;stSG608979;stSG608980;stSG608981;stSG608982;stSG608983;stSG608984;stSG608985;stSG608986;stSG608987;stSG608988 C16orf9;DKFZp761D0211;FLJ32603;gs19 OTTHUMP00000067159;OTTHUMP00000067160;OTTHUMP00000067161;chromosome 16 open reading frame 9 protein-coding ENSG00000167930 HGNC:14163 12677 VALIDATED 69006 ITGA1 integrin, alpha 1 This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008] 5 5 5 q11.2 49037686 49203085 + 52084136 52249485 + 52788302 52953655 + 1302875;729264;2302120;2302133;2302389;2302139;6480464;6907045;5135538;8554872 10536667;14984413;15836982;15976328;17543136;2380249;9408292 10094488;10196235;10455165;10457223;10595787;10666376;10684262;10713152;10714390;11307375;11336656;11454259;11518510;11572855;11877061;11937138;12042322;12078857;12477932;12482545;12662928;12694973;12734939;12883474;1429908;14627618;14660600;15109703;15132990;15372022;15485856;15592458;15679046;16008586;16043429;16335952;16412752;16472776;16754661;1690718;1693624;17312461;17603494;17669516;17891451;17931993;17982677;18048918;1807406;18081024;18269595;1827128;18377961;18454440;18587047;18647959;18813796;19056867;19397781;19581412;19730683;19780039;19850917;19913121;19933311;19946888;20232313;20436081;20531279;20628086;2099238;2144294;21521694;21647271;2169872;21946350;21947080;21965670;22001757;22002573;22020760;22030389;2229189;22298882;22698912;22847004;22919661;23070086;23284291;23284937;2341567;23419831;23448258;23819010;24124332;24164540;24187131;24250222;3033641;3546305;7493648;7806264;7897185;8387021;8428973;8557756;8717325;8814241;8898357;9139675;9154536;9688542;9699516 3672 P56199 ABBA01015716;ABBA01015717;AC022133;AC025180;AC026230;AC027326;AK300423;AMYH02011289;AMYH02011290;BC050277;BC137121;BC137122;JA738697;KF457900;KF510904;KF510905;KF510906;KF510907;NM_181501;X68742 AAI37122;AAI37123;BAG62150;CCF77001;NP_852478;P56199 Hs.644352 1663232;1664792;1713001;1718721;1724255;1735570;1790169;1794248;1797756;2125775;2139240;2178594 D5S1686E;ITGA1_2521;L28297;L28346;PMC310876P1;Pelo;RH120591;RH121270;RH123048;SHGC-32850;SHGC-53304;WI-17921 CD49a;VLA-1;VLA1 CD49 antigen-like family member A;OTTHUMP00000161814;integrin alpha 1;integrin alpha-1;laminin and collagen receptor;very late activation protein 1 APPROVED protein-coding HGNC:6134 01892 192968 REVIEWED 735534 ITFG1 integrin alpha FG-GAP repeat containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 16 16 16 q12.1 31697397 32002959 - 47188302 47495018 - 47155386 47461107 - 6480464;8554872 12477932;12598909;14702039;15489334;17384681;20379614;21900206;21906983;21963094;22268729 81533 B4DSA2;F5GXC5;H3BQ64;H3BUJ1;I3L1X7;Q8TB96 ABBA01013751;ABBA01013752;ABBA01013753;ABBA01013754;ABBA01013755;ABBA01013756;AC007494;AC007533;AC007599;AF212247;AF503339;AK027596;AK295228;AK299641;AK301908;AK309475;AL833705;AMYH02031972;AMYH02031973;AMYH02031974;BC006321;BC024162;CH471092;KF456184;NM_030790 AAG41782;AAH06321;AAH24162;AAN31655;ABM84440;ABM87492;BAB55220;BAG58221;BAG61564;BAG63334;EAW82698;EAW82699;NP_110417;Q8TB96 Hs.42217 1339376;1678771;1679285;1679918;1680629;1687313;1690958;1717937;1738607;1738765;2151905;2220262;5124525 AB062962;D16S2754;D16S2850;D16S3044;RH122795;RH25769;RH44367;RH45443;RH65004;RH66125;RH68894;RH69896;RH94268 CDA08;TIP 2310047C21Rik;OTTHUMP00000164135;T cell immunomodulatory protein;T-cell immunomodulatory protein;hypothetical protein cda08;integrin-alpha FG-GAP repeat-containing protein 1 protein-coding HGNC:30697 16692 611803 PROVISIONAL 1323311 ITGA11 integrin, alpha 11 This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008] 15 15 15 q23 45478965 45613905 - 68591128 68724502 - 68298790 68432153 - 1358329;1580863;6480464;6907045;5135538;5490966;8554872 12297042;17543136;18772397 10464311;10486209;11518510;12392762;12496264;14702039;15146197;16210410;16697656;17600088;18519826;18839057;18990704;19390575;19641149;19789190;19913614;20379614;21565611;21796158;22869616;23377640;23382691 22801 B3KTN6;Q9UKX5 ABBA01038781;ABBA01038782;ABBA01038783;ABBA01038784;ABBA01038785;AC021553;AC100825;AF109681;AF111799;AF137378;AK095863;AK292445;AK304778;AL117454;AL359064;AMYH02030684;AMYH02030685;AMYH02030686;BX496541;CH471082;CN358985;KF510410;NM_001004439;XM_005254228 AAD51919;AAF01258;AAI67840;AAL39001;BAF85134;BAG53148;BAG65532;CAB94392;EAW77820;EAW77821;NP_001004439;Q9UKX5;XP_005254285 Hs.436416;Hs.458733 1336528;1698662;1711200;1718323;1758215;1759533;1853702;2110467;2127182;5128177 D15S983;ITGA11_2690;RH102890;RH122933;SHGC-142055;SHGC-147691;SHGC-150911;SHGC-57393;SHGC-85354;STS-H15811 HsT18964;RP11-709B3.2 integrin alpha-11 APPROVED protein-coding ENSG00000137809 HGNC:6136 05310 604789 REVIEWED 1321177 ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) The protein encoded by this gene belongs to the family of integrins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain, and function as cell surface adhesion molecules. This gene encodes alpha 3 subunit, which undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 subunit to form an integrin that interacts with many extracellular-matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] 17 17 17 q21.33 44591582 44627962 + 48133340 48167849 + 50055976 50090485 + 1358329;1580863;2325818;2325829;2325666;2325851;2325287;2302139;2302389;6480464;6484113;6907045;5135538;8699517;7240710;8554872 12297042;14984413;15583703;15836982;17543136;1835909;19041328;19662603;20525748 10065872;10082751;10094488;10455171;10487289;10684262;10694273;10734060;10801807;10811835;10852818;10906324;10929059;10982388;10994995;11165569;11278628;11307375;11327697;11344212;11358957;11387256;11679509;11853674;11884516;11888933;11907260;11936878;11964076;11988844;12119179;12372459;12397374;12445830;12452046;12477932;12480921;12615788;12699087;12717361;12775419;12887919;12919677;14596610;14602071;14607975;14612440;14645603;14662754;14666169;14676841;14702039;14706682;15024036;15109703;15181153;15194015;15254262;15280429;15302884;15346842;15351855;15361064;15677332;15805105;15878864;15919367;15983209;16055706;16103120;16273094;16307893;16326706;16339173;16344560;16373174;16390868;16459165;16475024;16510444;16537545;1655803;16571677;16707493;16731529;16732726;16785564;16878156;1690718;1693624;1714443;17170699;17265493;17475774;17481915;17498594;17630833;17888902;17997226;18224668;18384059;18464290;18492066;18550570;18695939;18839319;19056867;19074885;1911778;19130304;19224172;19230171;19297475;19339270;19411307;19451223;19581412;19730683;19752234;19755493;19759146;19933311;20352300;20412552;20877569;20926544;20927591;21139048;21182210;21195710;21455571;21530503;21906983;21987572;22268729;22512483;22684562;22843693;22917688;22936677;22986527;23000965;23011394;23074279;23094960;23248240;23533596;23590307;23613949;23652300;23686814;23687274;23786209;23874206;24006899;24084442;24220332;24289209;24381140;3033641;3546305;6593709;7542504;7545357;7591201;8006073;8187758;8407358;8757325;8889548;9111516;9223324;9350325;9360995;9360996;9402008;9704023;9733622;9809676;9950675 3675 B4DDT0;D6R9X8;H0YA32;H0YA49;K7EMU3;K7EQJ2;P26006 AB209658;ABBA01041226;ABBA01041227;AC002401;AC009720;AK091950;AK092023;AK289961;AK293323;AK303384;AMYH02033584;BC015344;BC043917;BC136636;BC144328;BC150190;BM978115;CH471109;D01038;DA655978;KF456287;M59911;NG_029107;NM_002204;NM_005501;XM_005257308 AAA36120;AAH43917;AAI36637;AAI44329;AAI50191;BAA00845;BAD92895;BAF82650;BAG56841;BAG64440;EAW94645;EAW94646;EAW94647;EAW94648;NP_002195;NP_005492;P26006;XP_005257365 Hs.265829 1659776;1659778;1796134;2121964;2148884;2175906;5015961;5020393;5037552 D15S1477;D8S2279;GDB:314047;ITGA3_168;STS-D29549;STS-H06518;STS-M59911;STS-R69448;WI-21975 CD49C;FLJ34631;FLJ34704;FRP-2;GAP-B3;GAPB3;MSK18;VCA-2;VL3A;VLA3a CD49 antigen-like family member C;ILNEB;OTTHUMP00000220803;VLA-3 subunit alpha;antigen identified by monoclonal antibody J143;galactoprotein B3;integrin alpha-3;very late activation protein 3 receptor, alpha-3 subunit APPROVED protein-coding ENSG00000005884 HGNC:6139 05431 605025;614748 REVIEWED 1348031 ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) The product of this gene belongs to the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an alpha 4 chain. Unlike other integrin alpha chains, alpha 4 neither contains an I-domain, nor undergoes disulfide-linked cleavage. Alpha 4 chain associates with either beta 1 chain or beta 7 chain. [provided by RefSeq, Jul 2008] 2 2 2 q31.3 175917712 175998559 + 182321619 182402474 + 181456892 181537747 + 1580863;6480464;6907045;5135538;5490966;2308810;8554872 17543136;18772397;9032136 10229664;10604475;10702270;10852818;11010812;11083865;11435317;11533025;11724793;11777963;11877275;11919182;11929779;11929789;11966761;12054567;12097820;12163503;12171996;12218055;12234367;12477932;12519789;12659685;12682249;12686501;12694973;12794117;12837751;12844491;12869515;12904899;1373725;14525968;14623330;14645084;14657342;14666169;14681217;14699013;15051489;15070678;15090462;15166232;15226304;15257952;15263094;15292185;15308572;1537388;15448154;1551405;15572366;15622747;15731179;15749880;15872091;15987366;15990174;16001979;16002725;16158049;16227616;16249234;16365170;16818733;16920711;1693624;17015707;17150024;1715889;17274987;1730718;17352405;17369818;17472576;17530710;17597073;17609118;17689671;17959854;17964871;1824634;18264102;18292781;18308860;18326820;18348195;18351655;18390735;18448868;18501656;18519809;18549800;18614994;18628406;18632734;18635536;18641015;18697202;18697840;18846500;18850009;18941119;19000758;19011162;19064666;19074885;19259978;19318232;19345424;19353432;19454674;19460753;19542447;19579970;19604093;19655168;19738201;19748482;19795986;19815047;19864932;19913121;19933330;19946888;20007695;20097761;20190752;2034655;20357260;20379614;20388801;20628086;20970478;21037509;21075690;21093051;21114537;21224395;21284901;21296888;21298552;21383973;21417760;21430257;21703981;21705617;21738478;21738480;21876768;21906983;21912696;21926353;21976114;21980133;22002573;22159714;22190034;22472442;22505724;22623428;22644786;22691367;22711564;22822002;22908191;23083349;23116545;23125415;23160057;23243277;23314186;23344661;23553626;23686382;23704882;23758320;23762317;23938462;23986478;24001772;24006483;24047894;24068493;24162774;24239175;24288111;24599548;24606696;24743435;24756760;24802248;2788572;3033641;3546305;7587632;8440915;8611173;8643114;8757325;9079671;9086434;9117345;9263011;9488735;9541595;9547293;9765275;9789327;9873398 3676 AAB25486;E7EP60;P13612 AB208885;ABBA01062287;ABBA01062288;AC020595;AJ504733;AJ508356;AJ510246;AJ510247;AJ510248;AJ510249;AK303220;AK303478;AK310610;AK311738;AMYH02005357;BC016671;BC055419;BC080190;CH471058;L12002;NM_000885;X16983 AAB25486;AAB59613;AAH16671;AAH55419;AAH80190;AAI46278;AAI56713;BAD92122;BAG64307;BAG64514;CAA34852;CAD43289;CAD48165;CAD53326;CAD53327;CAD53328;CAD53329;EAX10985;EAX10986;EAX10987;NP_000876;P13612 Hs.440955 1695762;1696544;1739009;1796136;1848962;2116845;2146130;2153307;2178838;5022759 D2S1872;D2S2637;G35017;ITGA4;ITGA4_1403;RH18091;RH47596;RH68735;SHGC-78143;SHGC-78758 CD49D;IA4;MGC90518 269C wild type;CD49 antigen-like family member D;OTTHUMP00000205320;VLA-4 subunit alpha;antigen CD49D, alpha-4 subunit of VLA-4 receptor;integrin alpha 4;integrin alpha-4;integrin alpha-4 subunit;integrin alpha-IV;very late activation protein 4 receptor, alpha 4 subunit APPROVED protein-coding HGNC:6140 01894 192975 REVIEWED 1348738 ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 5 5 5 q11.2 49238739 49344187 + 52285156 52390609 + 52989326 53094779 + 1581029;1582296;1582298;1582305;1582294;1582302;1582299;1582295;1582297;1582303;1582304;1582306;1582300;1582301;1580863;2307419;2307425;2307420;2307422;2307421;2307423;2307424;6480464;6484113;6907045;7240710;5135538;8693305;2313281;8686432;8686431;8699517;7777103;5147460;8693217;8693207;8554872;8686430 10194421;10822074;11207307;11489992;11978651;12412731;12540964;12871362;12928694;14563646;14687991;15025679;15104219;15227729;16157382;16380674;16525573;16697311;17466965;17543136;18567821;18806884;19146775;19321657;19387084;20621762;21632096;22948415;23776381;8989742;9684730 10094488;10201960;10339462;10381815;10397731;10465258;10666376;10737800;10741407;10744142;10778855;10918561;10942362;10944199;11030148;11169447;11238113;11246537;11307375;11323022;11359774;11359786;11395045;11472360;11518510;11555674;11568114;11572092;11698306;11728949;11775028;11776052;11809527;11812069;11835340;11856343;11877061;11958806;12038776;12042322;12070018;12071877;12073410;12082590;12082592;12181354;12208476;12372459;12392763;12477932;12482545;12486862;12499711;12529399;12544734;12615788;12657625;12681287;12690916;12717361;12724616;12788934;12791669;12871600;12915563;13679375;14556196;14671618;14679206;14681217;14701832;14746139;15132990;15146197;15147720;15174051;15205592;15240572;15265786;15292257;15304053;15342556;15350465;15355503;15355504;15514009;15522237;15546585;15630502;15647274;15699160;15730528;15777792;15847651;15892865;15947241;15978109;15978110;16043429;16055706;16113793;16140647;16214444;16263699;16304451;16317580;16341674;16344560;16357324;16390868;16421008;16513317;16573563;16622460;16634766;16732726;16754661;16754960;16762342;16820192;16828471;16875034;16882656;16905953;1690718;16908762;1693624;16972245;17003923;17023078;17036337;17070428;17092301;17127487;17157856;17160992;17164499;17170699;17179151;17184645;17196570;17264949;17312461;17331499;17346829;17408410;17495265;17498594;17534386;17538005;17598123;17630485;1763388;17638891;17669516;17728329;17855352;17890945;18026855;18057877;18231737;18362184;18413316;18417478;18448666;18491034;18502778;18513389;18554474;18587047;18608122;18613064;18638089;18787945;18820259;18826391;18830231;18836731;18936436;18974842;18983487;18990704;19008959;19082798;19110485;19131662;19132198;19202951;19204726;19235843;19263529;19336370;19350519;19388931;19395705;19411307;19420105;19422573;19451223;19479237;19500323;19530321;19549780;19559392;19570064;19578796;19581412;19587357;19622836;19635510;19700757;19702628;19724904;19729601;19740098;19778317;19789264;19789387;19827952;19913121;19927126;19933311;19948007;19995941;20048261;20063990;20076847;20149160;20178602;20201926;20204402;20336352;20351310;20436081;20453000;20485444;20492470;20532885;20536507;20598296;20628086;20667040;20691446;20806289;20939067;21034162;21126803;21134100;21135504;21139048;21193198;21262375;21370991;21474814;21508388;21558389;2156854;21596751;21645227;21647271;21652699;21658756;21672359;21734795;21743959;21765051;21787362;21796158;21850018;21906983;21947080;21963094;22015659;22049795;22133774;22160595;22298882;22304920;22354032;22418441;22457358;22590584;22634764;22939629;23070086;23116973;23132859;23161041;23204528;23242739;23249684;23284937;23368983;23418787;23469002;23638215;23922814;23951036;24244022;24289209;24466284;24501414;24850451;2545729;2933589;3546305;7503723;7545357;7639691;7861330;7901236;7916494;7994488;8276836;8387021;8889548;9198193;9211352;9223755;9281592;9353312;9391074;9402003;9461325;9509387;9632739;9645947;9676575;9688542;9731077;9746778;9789327;9812906;9813091 3673 D6R9H3;D6RG08;E7EMF1;E7ESP4;E9PB77;P17301 ABBA01015717;ABBA01015718;AC008966;AF035968;AF062039;AF512556;AK307952;AMYH02011290;AMYH02011291;AU126174;BC143505;BC143508;BC143509;BC143511;BC143512;BE048389;BF355124;BG288116;BG494837;BG771368;BM828183;BM979113;BP280760;BP381403;CA442768;CH471123;CK904145;CN272390;DA343078;DA545055;JA738693;KC876967;L24121;NG_008330;NM_002203;NR_073103;NR_073104;NR_073105;NR_073106;NR_073107;S72155;X17033 AAA16619;AAC94975;AAD14096;AAF77577;AAI48597;AAI56716;AAM34795;CAA34894;CCF76999;EAW54872;EAW54873;NP_002194;P17301 Hs.482077 1298276;1646471;1647515;1678975;1690738;1755241;1768517;2112200;5020242;7185423;7186711 D11S2612;D5S2427;D5S2773;D5S623;RH66001;RH75317;SGC32937;SHGC-142139;SHGC-14947 BDPLT9;BR;CD49B;GPIa;HPA-5;VLA-2;VLAA2 CD49 antigen-like family member B;OTTHUMP00000161816;OTTHUMP00000221525;OTTHUMP00000221526;VLA-2 subunit alpha;VLA2 receptor, alpha-2 subunit;collagen receptor;human platelet alloantigen system 5;integrin alpha 2;integrin alpha-2;platelet antigen Br;platelet glycoprotein GPIa;platelet glycoprotein Ia;platelet membrane glycoprotein Ia;very late activation protein 2 receptor, alpha-2 subunit APPROVED protein-coding ENSG00000164171 HGNC:6137 01893 192974;614200 REVIEWED 1349627 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 39159154 39176462 - 42449550 42466873 - 44372182 44389505 - 1580863;2316362;2316360;2316358;2316361;6480464;6484113;6907045;7240710;5135538;8554872;8699517 11493456;11705748;15280099;15678115;17543136 10212286;10391209;10429193;10605720;10607701;10772239;11204574;11238109;11260063;11260064;11341496;11359786;11367863;11460491;11467947;11487023;11575217;11583324;11606749;11698306;11719362;11728949;11776052;11798398;11812775;11858493;11918133;11964172;11994301;12023286;12031826;12038797;12042322;12049640;12071877;12083483;12140290;12181054;12200372;12297512;12388784;12393463;12399140;12408998;12411794;12424194;12426312;12446192;12477932;12506038;12511588;12586134;12609844;12637342;12668663;12719784;12724616;12730600;12736272;12799374;12827240;12860973;12871362;12871379;12871468;12871600;12911597;12938014;1375923;1429573;14521607;14525764;14597981;14671618;14675395;14681217;14985176;15056669;15067009;15075326;15099289;15121870;15131115;15134555;15166241;15205468;15219201;15226180;15227729;15316595;15355503;15379538;15630502;15634267;15678278;15701653;15701721;15730528;15748238;15842360;15847651;15863506;15886807;15890274;15908444;15917997;15976180;15978110;16005629;16051597;16102042;16115959;16228296;16248996;16322781;16324093;16335952;16357324;16359515;1639797;16469512;16487966;1650365;16546176;16573563;16581250;16582881;16636497;16716076;16773503;16806233;16822941;16825200;16877710;16879215;16879224;16895913;16905953;16923192;16933105;17018384;1702098;17032655;17138951;17160992;17192395;17320454;17332246;17337041;17346829;1737795;17414216;17468108;17488698;17495265;17538005;17561290;17615290;17630485;17635696;17644514;17714854;17721619;17728329;17763154;17767046;17872456;17922435;17954176;18041653;18057877;18064323;18088350;18174155;18201749;18211801;18237139;18316480;18316775;18317590;18328539;18331836;18334487;18383324;18396070;18399841;18405917;18433460;18502778;18573917;18638089;18641368;18646302;18791937;18796633;18826388;18976939;18979362;18979363;18989530;18990338;19082798;19117493;19132198;19170775;19172520;19232685;19262211;19279667;19286442;19329429;19527732;1953640;19562259;19570064;19691478;19702628;19729601;19734576;19765213;19778317;19804783;19805198;19863457;19884334;19888429;19903699;19913121;19948007;19996122;20002543;20020534;20075254;2010551;20149160;20153702;20158572;20230421;20308600;20363746;20486118;20514618;20584077;20615878;20628086;20652946;20667040;20723174;20819594;20828133;21029361;21071690;21156831;21190668;21388953;21454453;21487445;21529934;21645497;21832081;21917754;21966982;22015616;22015659;22078565;22102273;22136613;22139419;22190468;22268729;22268819;22308022;22448399;22456341;22457811;22461623;22484027;22513797;22531012;22613710;22730538;22738334;22855295;22880801;22952660;23022222;23082158;23197154;23216754;2322558;23243278;23305224;23358226;23382103;23412353;2345548;23494007;2350579;2351656;23519467;23571313;23580774;23750933;23929305;24030382;24096143;24116162;24136164;24176823;24210614;24244288;24338009;2439501;2444974;24523237;24749250;2476117;2775232;2845986;3422188;3479442;3534886;3607284;3801670;7508443;7520045;7559457;7688323;7706461;7878622;8132607;8282784;8400294;8467233;8612741;8620874;8631894;8663236;8704171;9030514;9215749;9288464;9351824;9473221;9722314;9734640;9736129;9763559;9789327;9809890;9809974;9920835 3674 B7Z8B0;K7EKA6;K7EP83;P08514 AB209552;ABBA01028373;AC003043;AC007722;AF098114;AK297155;AK303081;AK315335;AMYH02033481;AMYH02033482;BC117443;BC126442;BE409167;BM148153;CH471178;DQ841705;J02764;M18085;M22568;M22569;M33320;M34344;M34480;M54799;NG_008331;NM_000419;X06831 AAA35926;AAA52587;AAA52588;AAA52597;AAA52598;AAA52599;AAA53150;AAA60114;AAC98507;AAI17444;AAI26443;ABI15196;BAD92789;BAG37735;BAG59654;BAH13896;CAA29987;EAW51594;EAW51595;EAW51596;EAW51597;NP_000410;P08514 Hs.411312 1741203;1741373;2151159 D17S2050;GDB:178576;GDB:180940 BDPLT16;BDPLT2;CD41;CD41B;GP2B;GPIIb;GT;GTA;HPA3;PPP1R93 GPalpha IIb;integrin alpha-IIb;integrin, alpha 2b (platelet glycoprotein iib of iib/iiia complex, antigen cd41b);platelet fibrinogen receptor, alpha subunit;platelet membrane glycoprotein IIb;platelet-specific antigen BAK APPROVED protein-coding ENSG00000005961 HGNC:6138 06377 187800;273800;607759 REVIEWED 8173971 ITGA9-AS1 ITGA9 antisense RNA 1 3 3 p22.2 37850352 37892932 - 37832913 37851441 - 12477932;16344560;23942779 101928153 ABBA01024842;AC093415;AMYH02006561;BC040563;DA058144;DA501566;HY121631;NR_110531;NR_110532;XR_425581;XR_427325;XR_431579 Hs.657314 ncrna HGNC:49668 VALIDATED 736147 ITGA8 integrin, alpha 8 Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014] 10 10 10 p13 15492319 15695021 - 15557711 15762328 - 15515712 15720329 - 1580863;633055;2302241;6480464;6907045;5135538;7257723;7240710;8699517;8554872 10504498;17303177;17543136;18277079 11470831;11668187;12060755;12415008;12787402;15164054;15579315;15592496;15721307;16385451;19197348;19342381;19527220;19915575;20678483;20942236;21906983;23142384;23153507;24024966;24439109;7541634;7559467;7768999;9614184 8516 B4DN28;P53708 ABBA01034582;ABBA01034583;AK297740;AK308240;AL359645;AL590636;AMYH02022214;AMYH02022215;AMYH02022216;AMYH02022217;AY371697;BU735798;CH471072;DB237365;DC425586;EF444991;L36531;NG_034116;NM_001291494;NM_003638;XM_005252633 AAA93514;AAI48353;AAQ56848;ACA06009;BAG60090;EAW86235;NP_001278423;NP_003629;P53708;XP_005252690 Hs.171311;Hs.592472 1335191;1664912;1706514;1736040;1759447;1764269;2129505;2163004 AFMA191WH5;CHLC.GGAT21B04;D10S1312E;D10S1653;RH48069;SHGC-147889;SHGC-150836;SHGC-81229 OTTHUMP00000019207;integrin alpha 8;integrin alpha-8 protein-coding HGNC:6144 10361 191830;604063 REVIEWED 8171608 ITGA9-AS1 ITGA9 antisense RNA 1 p22.2 102800313 BC040563 Hs.657314 ncrna HGNC:49668 731429 ITGA6 integrin, alpha 6 The ITGA6 protein product is the integrin alpha chain alpha 6. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, alpha 6 may combine with beta 4 in the integrin referred to as TSP180, or with beta 1 in the integrin VLA-6. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 166905512 166984375 + 173291954 173371181 + 172427586 172506453 + 1358329;1600016;1302259;1580863;6480464;6907045;7240710;5135538;8699517;8554872 12297042;13130099;17543136;9185503 10094488;10477615;10525545;10637308;10657249;10671376;10711425;10713718;10811835;11238109;11251584;11359780;11389095;11479315;11684709;11728829;11739652;11809527;11852236;11861761;11884516;11959811;11988844;12033289;12105188;12364323;12397374;12429829;12477932;12482924;12499048;12791251;12802069;12826661;12883474;12909644;12919677;12931024;14517202;14602071;14607975;14707725;1476731;15161909;15194479;15302884;15361064;15557282;15579904;15679046;15840729;15885076;15897878;15983209;16228294;16258729;16263699;16339173;16344560;16424229;16436605;16504015;16537545;16571677;16581764;16732726;16757171;16870608;1690718;1693624;16940506;16965770;16973601;17085437;17170699;17192395;17303120;17332515;17452356;17475774;17652716;17935134;17979890;18155160;18270579;18436868;18451146;18550570;18614994;18687805;18814027;18818395;18831072;18842099;18958175;18971471;18974120;19107504;19124484;19130304;19138983;19242489;19364818;1946438;19491258;19579970;19586553;1976638;19767753;19775453;19808905;19827952;19933311;20301336;20432448;20441998;20452317;20485444;20508204;20564319;20628624;20695903;2070796;20855525;20878950;20927591;21115897;21139048;21182210;21195710;21359644;2138612;21388972;21474814;21518455;21558389;21752283;21799154;21832049;21906983;21969027;21987572;22049212;22295105;22311737;22328509;22389315;22396498;22493440;22514625;22592262;22684562;22843693;23045288;23070965;23071680;23071686;23106339;23233446;23306848;23333304;23436775;23496044;23499737;23611113;23708747;24015244;24022922;24042193;24056178;24180592;24227711;24289209;24304619;24375374;24403311;24418536;24564203;24860089;24955499;2542022;2649503;2967289;7556090;7583007;7629079;7681434;8163531;8253814;8360143;8496190;8757325;8838570;9158140;9360995;9360996;9425259;9500991;9660880 3655 C9JXX7;H7BZ97;P23229 AB208842;ABBA01020741;AC078883;AF166343;AK294436;AK296496;AK307777;AK311695;AMYH02005237;AMYH02005238;BC007002;BC050585;BC136455;BC136456;BX537483;CH471058;DA760250;DQ858220;EF491812;JA738587;JA738589;NG_008853;NM_000210;NM_001079818;S52135;S66196;S66213;X53586;X59512;XM_006712510;XM_006712511 AAB20354;AAB20355;AAB24829;AAD48469;AAH50585;AAI36456;AAI36457;AAX93133;ABH11650;BAD92079;BAG57680;BAG59130;CAA37655;CAA42099;CCF76946;CCF76947;EAX11175;EAX11176;EAX11177;NP_000201;NP_001073286;P23229;XP_006712573;XP_006712574 Hs.133397 1649202;1688638;1710762;1725593;1772024;2145442;2187339 G13288;G62018;RH48692;RH69051;RH98245;SHGC-12676;SHGC-84040 CD49f;DKFZp686J01244;FLJ18737;ITGA6B;VLA-6 CD49 antigen-like family member F;OTTHUMP00000163117;OTTHUMP00000205045;OTTHUMP00000205046;OTTHUMP00000205048;OTTHUMP00000205049;integrin alpha-6;integrin alpha6B APPROVED protein-coding ENSG00000091409 HGNC:6142 00945 147556;226730 REVIEWED 1346113 ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008] 17 17 17 p13 3629624 3716332 - 3617919 3704537 - 3714625 3801243 - 1580863;6480464;6484113;5135538;8554872 17543136 10673275;10790430;10837471;10978890;11311556;12370249;12414996;12434297;12477932;14532999;15196058;1542691;15489334;16169070;16177076;16216886;16920912;17325197;17975119;18182176;18492951;18839057;19023099;19074885;19150377;19604725;20237496;20379614;20417566;20588308;20875079;21739671;21917686;21948982;22505724;22922816;24190978;24250222;24477908;3498635;7614974;8119947;8526015;8580465;9676575;9765275 3682 K7EQU0;P38570 ABBA01054743;ABBA01054744;ABBA01054745;ABBA01054746;ABBA01054747;AC116914;AF168787;AF289864;AMYH02032808;BC113436;BC117207;CD368046;CH471108;L25851;NM_002208 AAB59359;AAF43107;AAI13437;AAI17208;ADR83440;EAW90480;NP_002199;P38570 Hs.513867 1298294;1338144;1652134;1674085;1691232;1722269;1754051;2129715;2154412;2163207;5022004;5092472;5092474 A004X48;D17S1298;D17S919;D4Ulb4;G54303;G54304;G60045;RH47338;RH48947;SHGC-12572;SHGC-132092;WI-14867;WI-22591 CD103;MGC141996 HML-1 antigen;HUMINAE;alpha polypeptide;antigen CD103, human mucosal lymphocyte antigen 1;integrin alpha-E;integrin alpha-IEL;mucosal lymphocyte 1 antigen APPROVED protein-coding ENSG00000083457 HGNC:6147 05249 604682 REVIEWED 734343 ITGA7 integrin, alpha 7 The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009] 12 12 12 q13 55730824 55758560 - 56078352 56109821 - 55684568 55716037 - 1600024;1600025;1580863;70774;6480464;6907045;7240710;5135538;8699517;8554872 1315319;14988073;17543136;9590299 10403775;10459022;10694445;10906324;10910772;11054877;11278916;11361006;11884516;12057917;12477932;12941630;12975309;14702039;15117962;15340161;16289162;16344560;17054947;17551147;17618648;17641293;18029348;1839357;18940796;19416897;20301468;20453000;20460506;20651226;21890473;23800289;23830872;24091324;24227711;7607681;8126096;8253814;8626012;9307969;9352853;9354797;9402008;9473524;9570924 3679 G3V2C6;G3V2I4;G3V2Q6;G3V3L8;H0YJ26;H0YJ98;H0YJS5;J3KNV4;Q13683;Q4LE35 AB210036;ABBA01008384;AC009779;AF032108;AF034833;AF052050;AF072132;AJ228836;AK022548;AK057949;AK304864;AMYH02026548;AY358882;BC050280;CH471054;DA096702;DA398527;NG_012343;NM_001144996;NM_001144997;NM_002206;X74295;XM_005268839;XM_005268840;XM_005268841;XM_005268842;XM_005268844;XM_005268845;XM_005268846;XM_005268847;XM_005268848;XM_005268849;XM_005268850 AAB87696;AAC18968;AAC39708;AAC80458;AAH50280;AAQ89241;BAE06118;BAG51088;BAG65602;CAA52348;CAB41534;CAB41535;EAW96819;EAW96820;EAW96821;EAW96822;EAW96823;NP_001138468;NP_001138469;NP_002197;Q13683;XP_005268896;XP_005268897;XP_005268898;XP_005268899;XP_005268901;XP_005268902;XP_005268903;XP_005268904;XP_005268905;XP_005268906;XP_005268907 Hs.524484 1644637;1720575;1855839;2153247 G59242;RH11299;STS-X74295;WI-16635 FLJ25220 OTTHUMP00000244243;OTTHUMP00000244244;OTTHUMP00000244245;OTTHUMP00000244246;OTTHUMP00000244278;integrin alpha 7;integrin alpha 7 chain;integrin alpha-7 APPROVED protein-coding ENSG00000135424 HGNC:6143 02761 600536;613204 REVIEWED 1351478 ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain. Alpha chain 5 undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. [provided by RefSeq, Jul 2008] 12 12 12 q11-q13 54440888 54464894 - 54789045 54813050 - 54395261 54419266 - 1580863;2302389;2302139;6480464;6484113;6907045;5135538;8554872 14984413;15836982;17543136 10022831;10065872;10072872;10082751;10091938;10094488;10397733;10626908;10673366;10713718;10848623;10871287;10888683;10982404;11149921;11158588;11462216;11479315;11555674;11741954;11801679;11852236;11877275;11877390;11893752;11919189;11937138;12042322;12067900;12081894;12115183;12138201;12174366;12196561;12220988;12359771;12477932;12486108;12595495;12639965;12682293;12799374;12807887;12865438;12868002;12871973;12883474;12970173;14596610;14610084;14684825;14970227;14998999;15006356;15028619;15051489;15090462;15100006;15187087;1532572;15331608;15389531;15489334;15500293;15509657;15684035;15699160;15728256;15737747;15757908;15781448;15881415;15983209;15987366;16005200;16051604;16341674;16344560;16430945;16457822;16547007;16569642;16756721;16818733;1690718;16920931;1693624;1693626;16940508;1694173;16959765;17012251;17027088;17133443;17286276;17300927;17359518;17406357;17472576;17482311;17490870;17498594;17596295;17624082;17664256;17664272;18029348;18186923;18243286;18328539;1834647;18445685;18452157;18464290;18583538;18590706;18611961;18613064;18676743;18687805;18707587;18775869;18845630;18992284;19036703;19179533;19267251;19276077;19297531;19404550;19416892;19443705;19454674;19460753;19478484;19497979;19502598;19564406;19579970;19581412;19617714;19706683;19710103;19738201;19747169;19822142;19843692;19847290;19850743;19887442;19933311;19950288;20052536;20097172;20118200;20133364;20172014;20332114;20332668;20339539;20352103;20379614;20471683;20514406;20522645;20528248;20564209;20565758;20643357;20686611;20713621;21119363;21119598;21139048;21170718;21178109;21210968;21224397;21337395;21343398;21344385;21352421;21374738;21429937;21521694;21592318;21747167;21762625;21787362;21880737;21906983;21913024;21933023;21947080;21951552;21963094;21988832;2202737;22095620;22114305;22158781;22171266;22227038;22241990;22268729;22287577;22361176;22451694;22461623;22562249;22581054;22629380;22644786;22692860;22723286;22735632;22773839;22865233;22939629;22940691;22976495;23007402;23233531;23373994;23389628;23416109;23499550;23640047;23640055;23664187;23686445;23765377;23770848;23819010;23886203;23967087;24085800;24109241;24176823;24286194;24312560;24434435;24440971;24448647;24463276;24464580;24478423;2450560;2454952;24550382;24644284;24833794;24965773;2846588;2944883;2958481;3033641;3546305;7504269;7532190;7539135;7542116;7592829;7690138;7861330;8034133;8387021;8537347;8538749;8562338;8599839;8658014;8757349;8980606;9211865;9223324;9238676;9314546;9361020;9509387;9789327;9790314;9809676;9864377;9916748 3678 B4E3F4;H0YHL9;H0YIV7;P08648 ABBA01008372;AC079313;AK291570;AK304696;AK311051;AK312414;AMYH02026535;AU133210;AY429549;BC008786;BM787112;BX647780;CH471054;HI574152;KF459780;M13918;NM_002205;X06256 AAA52467;AAH08786;ABM83616;ABW03523;BAF84259;BAG35324;BAG65466;CAA29601;CBX47565;EAW96780;EAW96781;EAW96782;NP_002196;P08648 Hs.505654 2129103;2181205 RH47986;STS-X06256 CD49e;FNRA;VLA-5;VLA5A CD49 antigen-like family member E;OTTHUMP00000242260;fibronectin receptor subunit alpha;fibronectin receptor, alpha subunit;integrin alpha-5;integrin alpha-F;very late activation protein 5, alpha subunit APPROVED protein-coding ENSG00000161638 HGNC:6141 00627 135620 REVIEWED 1350525 ITGAW integrin, alpha W 3686 HGNC:6151 1343608 ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 16 16 16 p11.2 28953869 29026766 - 31271288 31344213 + 31259967 31332892 + 1580863;6480464;6907045;1342461;5135538;7207258;7207265;6907051;5147916;7240710;8699517;8554872 15145554;17543136;19752320;21063074;21719445;21900205 10352278;10744708;10748078;10846180;10899906;10946284;11073102;11701612;11843895;11881155;11893077;11937770;11941318;11953106;11967116;12009501;12036876;12042322;12107753;12145463;12165526;12208882;12234260;12244179;12377763;12377937;12390020;12393547;12393719;12444150;12466503;12477932;12485936;12495676;12516552;12576754;12600815;12665127;12682255;12694184;12731070;12760968;12816955;12847278;12960243;1346576;14532278;14751053;14769799;15004192;15073035;15194813;15217824;15277376;15294914;15304494;15454120;15485828;15489334;15585684;15615722;15641787;15718918;15730520;15741160;15778383;15976367;16037628;16239529;16246332;16249234;16260637;16357311;16389569;16508260;16614246;16782049;1683702;16915040;17172930;17202372;17202407;17228360;17346796;17372166;17445870;17721605;17927697;17957461;18029348;18065787;18096476;18156711;18164590;18204098;18204446;18204448;18375764;18414903;18495781;18496641;18509085;18541300;18617697;18644795;18676132;18678668;18684982;18685529;18714035;18762778;18842294;18941116;19052753;19073595;19086264;19110536;19129174;19135988;19165918;19234460;19246218;19250688;19286673;19387459;19480860;19546439;19550115;19572148;19578722;19587009;1967280;19747912;19748962;19800635;19811837;19833726;19863185;19913121;19939855;20185670;20190138;20228269;20423844;20483667;20580686;20628086;20629846;20665668;20666624;20706761;20800911;20824631;20826754;20848568;20881011;20962850;21068098;21135163;21151989;21252155;21263017;21273385;21362770;21403131;21408207;21454473;21551251;21571730;21610569;21676865;21840425;21874872;22017400;22052909;22053606;22095715;22145905;22229891;22251373;22552879;22586164;22722613;22893614;23092917;23184931;23257917;23269830;23273568;23334594;23398146;23451151;23452299;23469114;23479224;23514737;23573259;23671673;23686079;23720274;23727038;23740937;23753600;23754403;23812215;23874603;23880611;23918739;23981064;24264377;24269694;2454931;2457584;24726062;24782118;24829201;2563162;2833753;3284962;3539202;4062888;7867070;8419480;8458080;8573344;8747460;9142045;9175709;9211902;9488691;9558116;9560195;9569238;9687375;9712878;9844058 3684 H3BMV4;I3NI33;P11215 AA436312;ABBA01042087;ABBA01042088;ABBA01042089;AC093520;AK057856;AK127637;AMYH02031846;AMYH02031847;AMYH02031848;AY187247;AY187248;BC096346;BC096347;BC096348;BC099660;BM194233;CH471192;J03925;J04145;JA738583;M18044;M76724;M84477;NG_011719;NM_000632;NM_001145808;S52227;XM_006721045 AAA51960;AAA58410;AAA59491;AAA59544;AAA59903;AAB24821;AAH96346;AAH96347;AAH96348;AAH99660;BAG54538;CCF76944;EAW52143;EAW52144;NP_000623;NP_001139280;P11215;XP_006721108 Hs.172631 1338725;1684463;1741359 D16S753;GDB:180920;RH79892 CD11B;CR3A;MAC-1;MAC1A;MGC117044;MO1A;SLEB6 CD11 antigen-like family member B;CR-3 alpha chain;antigen CD11b (p170);cell surface glycoprotein MAC-1 subunit alpha;integrin alpha-M;integrin, alpha M (complement component receptor 3, alpha);leukocyte adhesion receptor MO1;macrophage antigen alpha polypeptide;neutrophil adherence receptor alpha-M subunit APPROVED protein-coding ENSG00000169896 HGNC:6149 00411 120980;609939 REVIEWED 1322518 ITGA9 integrin, alpha 9 This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 37427381 37795659 + 37493813 37861281 + 37452322 37819790 + 1358329;1580863;6480464;6907045;5135538;5490966;8554872 12297042;17543136;18772397 10209034;10593924;11462216;11598204;11773029;11882657;12477932;15247268;15479742;15590642;16005200;16430945;18230652;18794852;18973153;19140316;19346516;19403822;19478819;19494327;19608669;19686679;19796635;20159768;20362630;20379614;20412120;20414254;20435742;20479155;21071450;21341269;21465533;21764681;21975548;22359512;22370635;22545097;22976797;23139255;23942779;24241034;24529757;8245132;8290272;8381220;8798654;9565552 3680 E9PDS3;H7C2L1;Q13797;Q8N6H6 ABBA01024842;ABBA01024843;AC092055;AC093415;AK026826;AK123884;AMYH02006559;AMYH02006560;AMYH02006561;AP006240;BC030198;BX647350;CH471055;D25303;L24158;NG_016166;NM_002207 AAA16099;AAH30198;BAA04984;EAW64501;NP_002198;Q13797 Hs.113157 1647816;1651817;1651819;1676438;1713515;1759943;1759945;1773633;1787780;1847639;2107233;2135256;2139630;2169721;2173250;2176866;2177270;2182665;2183115;5092908 A002B04;A009C07;D3S3382;D3S3452;D3S3880;D3S4038;G19873;G32406;ITGA9_7239;NRU7-11A;RH120242;RH16569;RH47614;RH98242;SHGC-170004;SHGC-170005;SHGC-173155;SHGC-56499;SHGC-76831;WI-18716 ALPHA-RLC;ITGA4L;RLC OTTHUMP00000161385;integrin alpha-9;integrin alpha-RLC;integrin, alpha 4-like APPROVED protein-coding HGNC:6145 04910 603963 REVIEWED 1352170 ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 29763904 29814478 - 30483983 30534506 + 30472662 30523185 + 1580863;6480464;6907045;5135538;8547716;8547696;8547687;8554872 11593541;15037117;17543136;8773354 10477596;10493829;10493852;10602019;11279101;11353828;11544294;11786177;11792712;11812992;11857637;11867690;11882033;11929876;11953106;12020947;12036881;12117984;12139949;12163056;12163503;12171996;12202941;12207338;12368450;12392323;12477932;12516552;12526797;12616499;12694184;12815062;12845325;12847234;12855590;1448173;14676297;14688105;14695458;14722085;15113754;15183063;15208262;15222882;15240749;15308572;15356110;15611342;15622747;15693793;15728350;15730520;15834409;15851656;15946252;15958383;15983060;16002691;16037628;16038038;16100282;16207819;16249234;16301335;16472601;16492228;16505487;16622014;16705652;16855029;16918410;16920795;16963559;1702722;17038526;17045822;17078873;17430469;17468108;17486117;1757107;17591777;1762294;17673459;17785425;17913807;18079697;18156711;18195072;18199751;18264102;18339898;18922916;19029120;19050286;19135988;19211748;19234460;19268609;19502238;19641037;1967280;19721069;19913121;19946888;20338181;20403997;20445017;20511548;20516718;20574620;20628086;20681010;20890395;20953905;21152086;21192791;21206905;21270395;21284901;21454358;21540444;21541792;21576384;21597477;21669874;21705617;21850260;21890473;22190034;22206678;22384114;22411821;22467872;22908191;23128233;23160181;23188505;23202514;23398146;23418509;23450818;23514737;23590845;23726040;23981064;24006483;2477710;24829201;2537322;2543075;2894392;3284962;3301632;7479767;7542116;7576051;7691868;7904170;7917519;8086129;8097887;8099450;8103515;8450224;8805579;8995416;9263011;9341793;9442085;9676575;9743356;9789327 3683 B2RAL6;B4DQ77;B4E021;H3BNL5;H3BS37;H3BSV1;H3BUT3;I3L1D1;I3L468;P20701 ABBA01042029;ABBA01042030;ABBA01042031;ABBA01042032;ABBA01042033;ABBA01042034;AC002310;AC116348;AC243616;AK298674;AK303190;AK314246;BC008777;CA430398;CH471192;DC324373;DQ131904;M95609;NM_001114380;NM_002209;XM_005255313;XM_006721044;Y00796;Z22804 AAA16474;AAC31672;AAH08777;AAZ38713;BAG36913;BAG60839;BAG64283;CAA68747;CAA80461;EAW52243;EAW52244;EAW52245;NP_001107852;NP_002200;P20701;XP_005255370;XP_006721107 Hs.174103 1682640;1740495;5022588;5124048;5491343 D16S1292;D5S1597E;Myln;RH48619;RH80563 CD11A;LFA-1;LFA-1A;LFA1A CD11 antigen-like family member A;LFA-1 alpha;antigen CD11A (p180), lymphocyte function-associated antigen 1, alpha polypeptide;integrin alpha-L;integrin gene promoter;leukocyte adhesion glycoprotein LFA-1 alpha chain;leukocyte function-associated molecule 1 alpha chain;lymphocyte function-associated antigen 1 APPROVED protein-coding ENSG00000005844 HGNC:6148 01079 153370 REVIEWED 1348968 ITGAX integrin, alpha X (complement component 3 receptor 4 subunit) This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 16 16 16 p11.2 158 1722 - 31366488 31394320 + 31355134 31382997 + 1580863;6480464;6907045;5135538;8554872 17543136 11174197;11369639;11460493;11799095;11840270;11845978;11937543;12083416;12100475;12208882;12351396;12477932;12576324;14702039;15489334;15665082;15730520;15900581;16037628;16344560;16716806;17045822;17726152;17726260;18047418;18204098;18386786;18541300;18580071;19129174;19234460;19237023;19257981;1967280;1976870;19800635;19910635;19946888;20032971;20033057;20382884;20479115;20574620;20610651;20660331;20679211;20888334;20962850;21030716;21239711;21257965;21273385;21362770;21666055;21874872;22017400;22244783;22393018;22539788;22808111;22844116;2303426;23118428;23246582;23874603;24124148;24129562;3284962;3327687;3549901;4062888;7512600;7621072;8045597;8573344;8598231;8645576;9176697;9250811;9473377;9598326;9885225 3687 H3BN02;P20702;Q8TES5 ABBA01042090;AC093520;AK074047;AK293367;AK296666;AK309642;AMYH02031849;AW014280;BC037577;BC038237;BM149283;CA308944;CH471192;DA324567;L19440;M29482;M29483;M29484;M29485;M29486;M29487;M81695;NG_011451;NM_000887;NM_001286375 AAA35661;AAA51620;AAA59180;AAH38237;ABM83412;ABM86623;BAB84873;BAG56881;BAG59263;EAW52140;EAW52141;EAW52142;NP_000878;NP_001273304;P20702 Hs.248472 1677638;1683563;1686150;1771590;1797760;2147171;5022578 D1S1423;ITGAX_2523;RH65242;RH69186;RH79906;SHGC-35326;SHGC-64124 CD11C;SLEB6 CD11 antigen-like family member C;OTTHUMP00000163299;integrin alpha-X;integrin, alpha X (antigen CD11C (p150), alpha polypeptide);leu M5, alpha subunit;leukocyte adhesion glycoprotein p150,95 alpha chain;leukocyte adhesion receptor p150,95;leukocyte surface antigen p150,95, alpha subunit;myeloid membrane antigen, alpha subunit;p150 95 integrin alpha chain APPROVED protein-coding ENSG00000140678 HGNC:6152 01051 151510 REVIEWED 1350069 ITGB1BP2 integrin beta 1 binding protein (melusin) 2 ENCODES a protein that exhibits calcium ion binding (inferred); integrin binding (inferred); SH3 domain binding (inferred); INVOLVED IN muscle organ development (inferred); signal transduction (inferred); ASSOCIATED WITH Cardiomyopathy, Dilated (ortholog); FOUND IN Z disc (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; ATP X X X q12-q13.1 70875506 70879082 + 70521581 70525221 + 71301732 71305371 + 1582491;1580863;6480464 12496958 10506186;11997396;12477932;12514714;15604093;20017903;21546274;23124043;23184943;25036637;9388239 26548 Q9UKP3 ABBA01067709;AF110225;AF140690;AL590762;AMYH02039673;BC108901;CH471132;NM_012278;XM_005262255 AAF01676;AAI08902;AAL36913;EAX05296;EAX05297;NP_036410;Q9UKP3;XP_005262312 Hs.109999 1658583;1702880;1769381;1788636;2108317;2119092;2219164 DXS1500;DXS7556;DXS9791;ITGB1BP2_2848;NONO_8509;RH18146;RH77996 CHORDC3;ITGB1BP;MGC119214;MSTP015 MELUSIN;OTTHUMP00000023501;integrin beta-1-binding protein 2 protein-coding ENSG00000147166 HGNC:6154 02271 300332 PROVISIONAL 1317220 ITGB1BP1 integrin beta 1 binding protein 1 The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. [provided by RefSeq, Jul 2008] 2 2 2 p25.2 9457992 9475539 - 9545810 9563698 - 9405681 9423564 - 1580863;6480464;7364738;7349373;8554872 23719537;23860236 10827173;11741838;11741908;11807099;11854171;11919189;12473654;12477932;14702039;14759258;15166238;15489334;15703214;16341674;16344560;16741948;17133355;17916086;18812969;19124506;20616313;21832049;21900206;21963094;22736399;23317506;23695561;8619474;8710854;9110174;9281591;9813144 9270 A8MPU2;B4DQY5;C9IZZ8;C9J0J6;C9J5T5;C9J6Y2;C9JBU8;C9JZ07;F8WF20;G3V1A3;O14713 ABBA01015584;AC080162;AF012023;AF012024;AK092115;AK093179;AK289817;AK299017;AMYH02003248;BC012264;BG032225;BM823938;BQ425555;BX647099;CH471053;CR457006;DA751320;NM_004763;NM_022334;XM_005246183;XM_005246184;XM_005246185;XM_005246186;XM_005246187;XM_005246188;XM_005246189;XM_006711903 AAB88671;AAB88672;AAH12264;AAY14857;ABM85411;ABW03723;BAF82506;BAG61097;CAG33287;EAX00991;EAX00992;EAX00993;EAX00994;EAX00995;EAX00996;EAX00997;EAX00998;EAX00999;EAX01000;EAX01001;NP_004754;NP_071729;O14713;XP_005246240;XP_005246241;XP_005246242;XP_005246243;XP_005246244;XP_005246245;XP_005246246;XP_006711966 Hs.467662 1773126;2122970;2136828;2151598;2165085;2186826;5113866;5123476 D2S1665E;RH16639;RH78071;RH78234;RH98873;SHGC-30375;SHGC-64269;STS-N29464 DKFZp686K08158;ICAP-1;ICAP-1A;ICAP-1B;ICAP-1alpha;ICAP1;ICAP1A;ICAP1B OTTHUMP00000115481;OTTHUMP00000115482;OTTHUMP00000195584;OTTHUMP00000195586;OTTHUMP00000214081;OTTHUMP00000214082;OTTHUMP00000214084;OTTHUMP00000214085;OTTHUMP00000214088;bodenin;integrin beta-1-binding protein 1;integrin cytoplasmic domain-associated protein 1;integrin cytoplasmic domain-associated protein 1-alpha;integrin cytoplasmic domain-associated protein 1-beta APPROVED protein-coding ENSG00000119185 HGNC:23927 06194 607153 REVIEWED 731798 ITGAD integrin, alpha D ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN heterotypic cell-cell adhesion; PARTICIPATES IN integrin mediated signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell surface (inferred); integrin complex (inferred); plasma membrane (inferred); INTERACTS WITH 1-naphthyl isothiocyanate (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p11.2 28870558 28903646 - 31404633 31437826 + 31393312 31426505 + 1358329;1580863;6480464;5135538;8554872 12297042;17543136 10438935;10722744;12429998;14702039;15561714;19571252;19710015;21508205;21712539;23414334;8666289;8777714;9598326;9841932 3681 Q13349;Q59H14 AB208945;ABBA01042090;ABBA01042091;ABBA01042092;ABBA01042093;AC026471;AC093520;AF187881;AK097160;AK301028;AMYH02031849;CH471192;HC734518;NM_005353;U37028;U40274;U40275;U40276;U40277;U40279 AAB38547;AAB60634;AAB60635;AAB60636;AAB60637;AAB60638;AAF62875;AAI56096;BAC04967;BAD92182;BAH13393;CBL95066;EAW52139;NP_005344;Q13349 Hs.679163 1748763;5014740 D17S610;SHGC-110391 ADB2;CD11D;FLJ39841 CD11 antigen-like family member D;integrin alpha x;integrin alpha-D;leukointegrin alpha D protein-coding ENSG00000156886 HGNC:6146 602453 VALIDATED 1352514 ITGB1P1 integrin beta 1 pseudogene 1 19 19 19 p 14625602 14626210 - 14732331 14734100 - 14621519 14623288 - 1979054 100422691 AC022149;NG_024150 1676176;1684892;1691054;1741585;1748473;1794814;2166920;2176972 D10S2354;D10S2370;GDB:181546;PMC59887P1;RH40308;RH47140;RH47472;SHGC-32719 FNRBL;ITGB1L APPROVED pseudo HGNC:3781 INFERRED 1320718 ITGB3BP integrin beta 3 binding protein (beta3-endonexin) This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 1 p31.3 62196117 62278760 - 63906441 63988944 - 63440770 63523499 - 6480464 10490654;10579726;10673397;11713274;11864709;12244126;12477932;12787561;14960584;15082778;15254226;15489334;15604093;15721744;16169070;16189514;16252010;16622419;16622420;16630834;16710414;18029348;18521086;20309963;20379614;21832049;21900206;21963094;23028590;23455924;7593198;9182673 23421 Q13352 AA873717;ABBA01074569;ABBA01074570;AF175306;AK309622;AK312944;AL592218;AMYH02001153;AMYH02001154;AMYH02001155;BC009929;BC014385;BU853146;BX004807;CH471059;NG_030011;NM_001206739;NM_014288;NR_045147;U37139;XM_006710514;XM_006710515 AAC50294;AAC50295;AAF00239;AAH09929;AAH14385;BAG35785;EAX06561;EAX06562;EAX06563;EAX06564;EAX06565;EAX06566;EAX06567;NP_001193668;NP_055103;Q13352;XP_006710577;XP_006710578 Hs.166539 1650441;2152886 SHGC-74928;SHGC-74935 CENP-R;CENPR;HSU37139;NRIF3;TAP20 OTTHUMP00000015392;OTTHUMP00000015409;OTTHUMP00000015410;beta 3 endonexin;beta-3-endonexin;centromere protein R;integrin beta-3-binding protein;nuclear receptor-interacting factor 3 APPROVED protein-coding ENSG00000142856 HGNC:6157 09267 605494 REVIEWED 6893126 ITGB2-AS1 ITGB2 antisense RNA 1 21 21 46340950 46349595 + 44921035 44929680 + 12477932;16344560 100505746 ABBA01074179;AL844907;AL844908;AMYH02037921;BC023625;BC040064;BC051807;BC062315;BU146543;DA378472;DA942354;DA944688;DA948979;DB115909;HG511901;HG511902;HG511904;HG511905;HG511906;NR_038311;NR_038312;NR_038313;NR_038314;NR_038315;NR_038316 Hs.661035 1654693;1760181;2133796 SHGC-132463;SHGC-32286;SHGC-87704 AL844908.5 ncrna ENSG00000227039 HGNC:44304 VALIDATED 733257 ITGB4 integrin, beta 4 Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25 70307618 70343945 + 73717516 73753899 + 75721436 75757818 + 1580863;729025;6480464;6907045;7240710;5135538;8554872;8699517 17543136;8026337 10428948;10477766;10484780;10504457;10637308;10671376;10711425;10727209;10792571;10811835;10873890;11044453;11251584;11289717;11320086;11328943;11375975;11389095;11684709;11733063;11809527;11848444;11884516;11886501;12023052;12105188;12107410;12110680;12119179;12167101;12168086;12397374;12429829;12441134;12477932;12482924;12485428;12499048;12694355;12802069;12865436;12919677;14512419;14517202;14602071;14668477;15009117;15121854;15161909;15194479;15302884;15304080;15367640;15381079;15387376;15542431;15579904;15611341;15707651;15817481;15951569;16007143;16258729;16335952;16436605;16537545;16581764;16707493;16713569;16740748;16757171;16870608;16878156;16914518;1693624;16964243;16965770;17314405;17515951;17711859;17964297;18224668;18270579;18281537;18299254;18348258;18550570;18729074;18814027;18824633;18940803;18955862;18959757;18971471;18974120;19005215;19061949;19074885;19087978;19094228;19124484;19138983;19151752;19199708;19242489;19403692;19567674;19586553;19597468;19670701;19710103;1976638;19913121;19923172;19933311;20301304;20301336;20301481;20301543;20307589;20364299;20509141;20510671;20512931;20603614;20628086;20695903;20705595;2070796;20729552;20855525;20936779;20937830;20955205;21098729;21139048;2138612;21388972;21769085;21906983;21963679;21969027;21987572;22049212;22304920;22308039;22493440;22496621;22545078;22673183;22865863;22917688;22939629;23013259;2311577;2311578;23212923;23348745;23496044;23499737;23611113;23617461;23803695;23884246;24006899;24007983;24418536;2542022;2649503;7545057;7556090;7982032;8444901;9166594;9171350;9194858;9207246;9344615;9374518;9422533;9428518;9500991;9546354;9660880;9792864;9837976;9892956 3691 J3KSH9;J3QQL2;J3QRK0;J3QS11;P16144 AB208913;ABBA01028772;ABBA01028773;AC087749;AF011375;AF011376;AI318403;AJ251004;AK304792;AK310952;AMYH02034000;BC109238;BC118916;BC126411;BC143738;BC143742;CA391583;CH471099;KF510426;NG_007372;NM_000213;NM_001005619;NM_001005731;U66541;X51841;X52186;X53587;XM_005257309;XM_005257311;XM_005257312;XM_006721866;XM_006721867;XM_006721868;XM_006721869;XM_006721870;Y11107 AAB65421;AAB65422;AAC51632;AAC51633;AAC51634;AAI09239;AAI18917;AAI26412;AAI43739;AAI43743;BAD92150;BAG65542;CAA36134;CAA36433;CAA37656;CAB61345;EAW89305;EAW89306;EAW89307;EAW89308;EAW89309;EAW89310;EAW89311;EAW89312;EAW89313;EAW89314;EAW89315;NP_000204;NP_001005619;NP_001005731;P16144;XP_005257366;XP_005257368;XP_005257369;XP_006721929;XP_006721930;XP_006721931;XP_006721932;XP_006721933 Hs.632226 1670460;1749833;2130226;2217500;5021710;5122930 D17S2049;ITGB4_2759;RH18101;RH47571;SHGC-111569;ksks329 CD104;GP150 CD104 antigen;integrin beta 4;integrin beta-4;integrin beta-4 subunit APPROVED protein-coding ENSG00000132470 HGNC:6158 00946 131800;147557;226650;226730 REVIEWED 6481340 ITGB5-AS1 ITGB5 antisense RNA 1 100873992 AC022336 APPROVED ncrna HGNC:40309 1321618 ITGAV integrin, alpha V This gene encodes a protein that is a member of the integrin superfamily. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein undergoes post-translational cleavage to yield disulfide-linked heavy and light chains that combine with multiple integrin beta chains to form different integrins. This protein has been shown to heterodimerize with beta 1, beta 3, beta 5, beta 6, and beta 8; the heterodimer of alpha v and beta 3 is the Vitronectin receptor. This protein interacts with several extracellular matrix proteins to mediate cell adhesion and may play a role in cell migration. It is proposed that this protein may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013] 2 2 2 q31-q32 181050405 181141257 + 187454058 187545629 + 186589645 186680902 + 1358329;1582453;1582446;1582450;1582452;1582449;1582447;1582461;1625134;1582458;1580863;1627651;1627644;1627640;1627642;6480464;6484113;6907045;5135538;8554872 10664059;11848444;11997283;12063036;12297042;12639933;15007005;15287373;15750161;16102435;16380536;16784924;16809548;17543136;17596340 10037797;10218736;10397733;10438928;10537314;10545994;10549293;10570297;10640428;10708943;10715259;10749942;10821835;10835423;10837460;10871287;10965141;11134507;11162558;11278329;11287419;11331301;11435317;11546839;11577104;11683411;11706074;11724803;11741954;11821050;11858476;11866539;11872628;11877390;11882657;11884718;11927607;11928818;11934894;11953315;11959660;11970960;11988838;11997396;12031826;12042322;12082152;12083833;12099514;12143051;12161360;12168086;12177807;12193380;12196561;12198771;12210725;12237112;12237321;12270930;12324452;12324470;12356872;12358597;12364323;12370491;12372469;12372811;12384999;12399420;12427871;12459484;12477932;12486108;12553378;12639965;12642872;12645863;12660257;12682293;12691260;12695522;12750158;12754519;12765524;12807887;12874388;12875973;12893184;12902636;12917446;14524530;14596610;14666169;14741360;14766759;14963009;14966135;15044441;15051489;15146197;15194773;15215180;15269586;15299032;1532572;15361064;15489334;15509546;15557124;15609323;15638730;15647827;15695828;15700281;15795319;15815621;15828940;15834425;15866865;15897908;15914035;15921657;15925879;15998788;16005200;16024014;16099422;16100012;16105876;16150802;16166568;16186116;16344560;16385340;16400188;16407244;16448724;16496302;16600665;16614246;16631740;16631833;16672769;16675963;16702213;16731529;16790523;16818691;16835373;16877343;1690718;1693624;1694173;16947382;16973584;17034033;17158881;17175151;17275949;17300927;17331499;17369840;17408468;17446174;17483236;17550972;17615072;17621633;17641225;17854909;17879163;17925226;17965016;18029348;18045938;18062611;18064530;18079201;18084301;18090124;18191107;18211678;18221819;18227168;18247041;18310319;18310446;18331351;18345483;18349127;18353318;18353785;18357713;18364349;18394009;18395422;18427826;18441324;18445685;18451156;18549690;18550570;18635536;18648521;18694400;18695916;18698261;18781095;18814143;18821851;18844213;18854176;18927433;19017937;19037107;19056867;19061491;19074851;19088289;19118218;19141530;19164533;1918072;19212436;19212638;19255147;19267182;19334037;19371633;19435649;19448673;19475568;19487690;19541645;19549907;19578119;19581046;19590686;19617625;19695571;19704023;19710103;19738201;19751734;19808093;19808644;19811096;19815712;19818132;19837659;19882657;19888429;19888537;19889638;19910644;19913121;19933311;19998373;20019187;20026907;20033473;20037822;20121756;20158572;20224109;20306691;20379614;20400979;20477989;20519501;20554778;20558745;20600001;20605574;20615244;20626753;20628086;20628624;20638909;20672329;20715172;20719960;20826760;20837477;20838674;20857483;20926544;20942236;20945385;20972812;21037076;21098231;21116829;21135163;21139048;21150164;21178476;21182210;21283814;21321266;21321268;21344378;21347514;21352421;21375561;21379327;2138612;21425129;21427239;21433063;21530503;21590707;21646718;21677875;21712047;21748756;21752283;21764795;21787362;21853313;21890473;21906983;21957301;21963094;21978494;21987572;2202737;22081074;22081516;22094875;22110279;22132110;22174124;22268729;22308022;22349830;22362758;22469980;22528484;22547930;22566688;22614033;22659470;22710795;22719931;22721769;22787119;22837212;22879933;22939629;22966907;22975325;23000965;23022044;23028753;23053782;23106217;23119061;23125415;23128103;23150579;23152803;23161541;23181508;23204516;23227240;23238957;23261238;23269786;23283986;23331428;23386126;23399898;23412966;23462327;23544955;23615713;23618859;23704872;23722547;23725446;23726972;23744557;23776077;23821196;23840404;23845472;23845726;23874206;23898055;24023288;24150233;24294359;2430295;24363825;24367260;24389192;24424369;2443500;24464580;24478423;2450560;2454952;24573955;2467745;24690239;24695839;2478219;24785587;24939290;7505120;7522056;7525578;7539135;7545239;7678549;7682219;7689573;7690138;8034133;8120056;8294396;8538749;8599839;8757349;8798654;9108459;9133434;9251239;9256940;9443892;9517988;9626063;9686320;9789327;9813179;9916748 3685 H7BZG1;P06756 AB209894;ABBA01062340;ABBA01062341;AC017101;AF251818;AF251819;AF251820;AF251821;AF251822;AF251823;AF251824;AF251825;AF251826;AF251827;AF251828;AF251829;AF251830;AF251831;AF251832;AF251833;AF251834;AF251835;AF251836;AF251837;AF251838;AF251839;AF251840;AF251841;AK302550;AK302990;AK309711;AMYH02005406;AMYH02005407;AMYH02005408;BC047454;BC072686;BC126231;BC136442;BC144100;BQ101180;BQ129340;CB962576;CH471058;CN409399;DA736912;EF560727;EU332844;KF456749;M14648;N83286;NM_001144999;NM_001145000;NM_002210;U07375;XM_005246536;XM_006712513 AAA36808;AAA61631;AAG03000;AAI26232;AAI36443;AAI44101;AAY24257;ABQ59037;ABY87533;BAD93131;BAG63819;BAH13869;EAX10933;EAX10934;NP_001138471;NP_001138472;NP_002201;P06756;XP_005246593;XP_006712576 Hs.436873 1705632;1770789;1797758;1849832;2123713;2156046;2162406;2165181;2179110;2190921 A006R29;A008S43;D2S1746;D2S2597;D2S2967;G10667;ITGAV_2290;MARC_11551-11552:1002130198:2;RH17666;SHGC-83383 CD51;DKFZp686A08142;MSK8;VNRA;VTNR OTTHUMP00000163473;OTTHUMP00000205399;OTTHUMP00000205400;antigen identified by monoclonal antibody L230;integrin alpha-V;integrin alphaVbeta3;integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51);vitronectin receptor subunit alpha 2303086 MAMTS44_H APPROVED protein-coding ENSG00000138448 HGNC:6150 01903 193210 REVIEWED 1349145 ITGB5 integrin, beta 5 ENCODES a protein that exhibits integrin binding (inferred); receptor activity (inferred); INVOLVED IN cell-matrix adhesion; endodermal cell differentiation; epithelial cell-cell adhesion; PARTICIPATES IN arrhythmogenic right ventricular cardiomyopathy pathway; cell-extracellular matrix signaling pathway; dilated cardiomyopathy pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell surface; extracellular vesicular exosome; focal adhesion; INTERACTS WITH 2-methylcholine; 3,3',5-triiodo-L-thyronine; 3-methylcholanthrene 3 3 3 q21.2 122889001 123012953 - 124480795 124606500 - 124761948 124887653 - 1580863;6480464;6907045;5135538;8554872 17543136 10438928;10537314;10579726;10995448;11146654;11162558;11278329;11287419;11331301;11435317;11462216;11877043;11927607;11934885;12270930;12356872;12358597;12459484;12477932;12606711;12769841;14627618;14702039;14741360;15123239;15156152;15174051;15456946;15489334;15604093;15673687;15866865;15979906;16005200;16355270;16385340;16614246;16672769;16675963;16878156;1694173;17074516;17170699;17963729;18162078;18445685;18550570;18590706;18648521;18844213;1918165;19255147;19267182;19502044;19695571;19811096;19910644;19913121;20026907;20237496;20400979;20404485;20431064;20507994;20615244;20626753;20628086;20719960;21098231;21344378;21906983;21963094;21978494;21988832;2211615;22470492;22503669;22547695;22561002;22566688;22623531;22659470;22692860;22824793;22879933;23000965;23028753;23152803;23227240;23261238;23269786;2328726;23462327;2371275;23874206;23874483;23962022;23984888;24036928;24294359;24389192;24455718;7592829;7682219;7689573;8757599;8886177;9442085;9443892;9531507 3693 F8WBG2;H7C4W1;H7C580;H7C5U2;L7RT22;P18084;V9GYD8;V9GYZ1;V9GZ57 ABBA01016431;ABBA01016432;AC022336;AC026342;AK054968;AK130168;AK309551;AK315429;AMYH02007563;BC006541;CH471052;EU332848;J05633;JX512446;M35011;NM_002213;X53002;XM_005247436;XM_006713630 AAA52707;AAA59183;AAH06541;ABM83704;ABM87024;ABY87537;AGC09593;BAG37817;CAA37188;EAW79405;EAW79406;NP_002204;P18084;XP_005247493;XP_006713693 Hs.536663 1651672;1667828;1672561;1797762;2131147;2131640 D3S3998;D3S4240;G09533;ITGB5_1796;SHGC-77290;STS-D29504 FLJ26658 OTTHUMP00000215272;integrin beta-5 protein-coding ENSG00000082781 HGNC:6160 00949 147561 PROVISIONAL 1343409 ITGB7 integrin, beta 7 This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] 12 12 12 q13.13 53233710 53249603 - 53585102 53601065 - 53191318 53207307 - 1580863;6480464;6484113;6907045;5135538;8554872 17543136 10790430;10837471;11035069;11160270;11781567;12477932;12606711;12682249;12840763;1372909;1373725;1382574;14608374;14681217;15225631;1543919;15448154;15489334;15663557;15699171;15749880;16177076;16818733;16874740;17325197;17490615;17690686;1777426;18264102;18308860;18829455;19460752;19699211;19795986;19864932;19933330;19946888;2040616;2083230;21075690;21284901;21296888;21357540;21383973;21398606;21417760;21430257;21474670;21906983;21926353;21926999;22418441;22822002;22908191;23251661;23553626;23986478;24162774;24606696;24802248;24829201;7509610;7689608;8119947;9233649;9655832;9765275 3695 F5H6T4;F8VNX4;F8W186;H3BRM2;H3BRX4;P26010 ABBA01008317;ABBA01008318;AC073573;AI804573;AK298239;AK300960;AK301523;AK311703;AMYH02026515;BC015916;CH471054;DC296007;L23823;M62880;M68892;NM_000889;NR_104181;S49378;S80335;XM_005268851;XM_005268852;XM_006719376;XR_429099 AAA36118;AAA59184;AAA59185;AAB21332;AAB23688;AAH15916;ABM86374;ABW03787;BAH12742;BAH13382;BAH13505;EAW96675;NP_000880;P26010;XP_005268908;XP_005268909;XP_006719439 Hs.654470 1764685;1777602;1778394 D12S1937;RK1228_1229;SHGC-148278 OTTHUMP00000242064;OTTHUMP00000242065;OTTHUMP00000242066;gut homing receptor beta subunit;integrin beta 7 subunit;integrin beta-7 protein-coding ENSG00000139626 HGNC:6162 00948 147559 REVIEWED 1345363 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 41781276 41840192 + 45331208 45390077 + 47253842 47312711 + 1580496;1625134;1580863;1580489;2316358;2316360;2316362;2316361;4892652;2317300;4993468;4990460;5037225;5037228;5037230;5037231;5037229;5112894;5128501;5128481;5128476;5100478;5128478;5128498;6480464;6484113;6907406;6907410;6907411;6907404;6907385;6907396;6907424;6907420;6907045;7240710;5135538;8554872;8693342;8693341;8699517;8693385;8693386;8693344;8693343 10531147;10583927;11051455;11299820;11375345;11493456;11705748;12606526;12639933;12746502;15114484;15280099;15634267;15678115;15817799;15886525;16322781;16793666;16831169;16869003;17543136;17556058;17868879;18419255;18638458;19272161;19368146;19386436;20162297;20846430;21107114;21804539;21813062;22022542;23109646;8083378;9315527;9716140 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12;19527732;19530321;1953640;19541645;19546854;19559392;19562259;19570064;19573311;19588468;19604247;19617625;19630800;19633306;19635510;19637098;19654300;19656390;19670701;1967954;19691478;19695571;19702628;19704023;19729601;19730003;19740098;19751734;19765213;19778317;19789190;19804783;19805198;19808093;19808644;19815712;19816083;19821948;19824427;19837659;19860767;19863457;19876733;19882657;19888429;19889638;19903699;19906129;19913121;19923980;19933311;19934566;19948007;19956635;19959486;19996122;20002543;2001252;20020534;20033473;20048261;20075254;20076847;20078877;2010551;20106508;20138334;20149160;20161734;20181715;20192979;20204402;20230421;20237496;20306691;20308600;20339539;20363746;20369606;20379614;20406466;20425806;20438394;20452482;20458832;20472470;20477989;20485444;20492470;20519501;20532885;20538554;20546203;20554778;20565758;20584077;20592457;20595101;20600001;20615878;20628086;20634891;20638909;20661303;20667040;20673868;20679525;20691446;20702409;20717043;20739287;20739877;20802378;20819594;20826760;20828133;20837477;20857483;20873239;20929856;20945385;20978323;21034162;21039385;21044892;21054877;21071690;21080081;21091771;21102624;21109038;21122545;21135163;21143381;21156831;21182210;21190668;21241403;21283814;21325030;21344378;21353223;2138612;2145280;21508388;21529934;21570717;21590707;21622897;21626402;21645227;21645497;21678053;21764795;21832081;21917754;21935711;21951552;21966982;21978494;22002573;22015616;22015659;2202737;22028352;22078565;22094875;22095620;22102273;22116617;22132110;22136613;22171266;22174124;22174684;22190468;22207115;22268819;22308022;22328516;22362758;22407444;22422622;22448399;22452684;22456341;22457811;22461623;22466811;22484027;22528484;22531012;22538781;22581054;22613710;22641344;22669259;22698642;22730538;22879933;22948415;23003125;23022044;23022222;23119061;23125415;23150579;23152803;23161541;23181508;23184042;23197154;23204516;23216754;23234019;23238957;23243278;23243309;23253071;23289212;23300803;23382103;23382691;23384292;23386126;23389628;2341395;23451109;2345548;23469002;23494007;23519467;23527123;23545624;23571313;23580774;23628433;23640055;23725446;23726972;23744557;23770013;23840404;23845726;23857544;23860687;23867618;23874206;23913837;2392682;23929305;23955631;23981581;24021319;24023288;24030382;24037888;24096143;24109241;24116162;24136164;24176823;24210614;24236036;24349096;24437179;24437181;24522833;24523237;2452834;2454952;24690239;24747441;2478219;24850451;24939290;2565345;2787511;3165296;3494014;3607284;3801670;3828395;7505120;7532190;7539135;7592818;7593198;7682219;7690138;7694683;7878622;8093349;8132570;8132607;8198553;8244378;8298129;8387021;8400294;8467233;8631894;8649427;8663236;8757599;8781422;8798654;8831898;8837777;9030514;9169439;9195946;9215749;9256940;9376589;9517988;9684783;9686320;9790984;9916748 3690 B4DTY9;I3L4X8;P05106;Q16157 ABBA01041118;AC068234;AMYH02033519;AY826979;BC127666;BC127667;BE389074;BE893993;BG170864;BQ437000;CH471231;DQ454156;J02703;KC120777;KC120778;L28832;M20311;M25108;M32686;M35999;M57494;NG_008332;NM_000212;S49379;S70348;U03881;U95204 AAA16076;AAA20880;AAA35927;AAA36121;AAA52589;AAA52600;AAA60122;AAA67537;AAB23689;AAB30847;AAB71380;AAI27667;AAI27668;AAX33645;ABE67092;AGC54783;AGC54784;EAW57679;EAW57680;EAW57681;EAW57682;NP_000203;P05106 Hs.218040 1659857;1660791;1741967;1757489;1778266;2116942;2140458;2158295;2159425;2186083;5024039;5096362;5493866 D16S325;D17S1991;D17S660;G10641;GDB:187323;Itgb3;RH47114;SHGC-144857;SHGC-35279;STS-AA037229;STS-M35999;STS-R30939;STS-S70348 BDPLT16;BDPLT2;CD61;GP3A;GPIIIa;GT integrin beta-3;platelet glycoprotein IIIa;platelet membrane glycoprotein IIIa 1643091 BP90_H APPROVED protein-coding ENSG00000259207 HGNC:6156 01428 173470;187800;273800;608446 REVIEWED 1346382 ITGB6 integrin, beta 6 This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 2 2 2 q24.2 154569718 154668069 - 160956182 161110349 - 160099666 160200313 - 1580863;2302245;2302244;6480464;6907045;5135538;7394797;737734;8554872 12634787;17543136;18221819;18538673;8466857 10025398;10721002;10906324;11029766;11076863;11095652;11230166;11407978;11668187;11807098;11821050;11857080;11992542;12177807;12477932;12917446;1382574;15028279;15194773;1532572;15458435;15489334;15489336;15815621;15828940;16005200;16024014;16344560;16381901;17275949;1729173;17438134;17684544;18349127;18698261;19088289;19448673;19549907;19581046;19590686;19910543;19913121;19920174;20237496;20418489;20554778;20628086;20838674;20854469;20889853;21037076;21132011;21178476;21323541;21787362;21913024;21934552;22787119;23331428;23412966;23615713;2365683;24055471;24150233;24294359;24367260;24573955;7537970;7626292;7959743;8081887;8120056;8798654;9252563;9741315 3694 B4E2B8;E9PEE8;F8WBJ8;P18564 A26609;ABBA01004870;ABBA01004871;AC080166;AC092153;AI264144;AK026736;AK290300;AK304203;AK313944;AL359053;AL831998;AMYH02005081;AMYH02005082;BC121178;BC143656;CD013944;CD013945;CD013946;CD013947;CH471058;DB222211;M35198;NM_000888;NM_001282353;NM_001282354;NM_001282355;NM_001282388;NM_001282389;NM_001282390;S49380 AAA36122;AAB23690;AAI21179;AAX93093;AAY24053;BAF82989;BAG36662;BAG65080;CAA01832;CAL38675;EAX11390;NP_000879;NP_001269282;NP_001269283;NP_001269284;NP_001269317;NP_001269318;NP_001269319;P18564 Hs.470399 1691254;1711042;1713263;2170649 RH120622;RH94144;SHGC-54614;SHGC-86148 OTTHUMP00000162896;OTTHUMP00000205127;OTTHUMP00000205128;OTTHUMP00000207333;integrin beta-6 protein-coding ENSG00000115221 HGNC:6161 00947 147558 REVIEWED 1322799 ITGB8 integrin, beta 8 This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 7 7 7 p21.1 20354962 20439624 + 20370345 20455382 + 20330727 20415759 + 1580863;1358329;6480464;6907045;5135538;8554872 12297042;17543136 11156415;11970960;12324452;12477932;12690205;12853948;12875973;16702213;18549475;19056867;1918072;19267251;19920174;20019187;20237496;20379614;20519498;20942236;20956944;21139048;21178476;21646718;21859829;21878622;22279205;22753015;23283986;23874518;24294359;24367260;7525578;9252563;9847074 3696 P26012;Q9BUG9 AB209429;ABBA01056671;ABBA01056672;AC004130;AK295044;AMYH02015331;AMYH02015332;AW516961;BC002630;BC042028;BI861225;BT006739;CH236948;CH471073;M73780;NM_002214;XM_005249751;XM_005249752 AAA36034;AAH02630;AAP35385;AAQ96845;AAQ96846;BAD92666;BAG58095;EAL24275;EAW93724;EAW93725;NP_002205;P26012;XP_005249808;XP_005249809 Hs.592171 1684385;1697900;1713541;1770002;1797764;1850645;1851941;2119702;2140193;2173759;2187225;5014051;5022651;5037552 D11S2921;D7S1900;D8S2278;D8S2279;GDB:1317418;ITGB8;ITGB8_762;RH102478;RH120257;RH17734;RH66568;RH71155;RH92522;SHGC-12785 OTTHUMP00000025212;integrin beta-8 APPROVED protein-coding ENSG00000105855 HGNC:6163 05001 604160 REVIEWED 1313694 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) The product of this gene belongs to the integrin beta chain family of proteins. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. This gene encodes the integrin beta chain beta 2. A given chain may combine with multiple partners resulting in different integrins. For example, beta 2 combines with the alpha L chain to form the integrin LFA-1, and combines with the alpha M chain to form the integrin Mac-1. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Defects in this gene are the cause of leukocyte adhesion deficiency type I (LAD1). Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 31412498 31455256 - 46305864 46348753 - 44885949 44928838 - 1581183;1581184;1581185;1600220;1580863;1358329;6480464;6480655;6482196;6482197;6482223;6482227;6482226;6482229;6482199;6482222;6482200;6482228;6482224;6482221;6482225;6484113;6907073;6907051;6907066;6907045;6907072;6907049;7240710;5135538;8547716;8554872;8699517 10030843;10886250;11007822;11031123;11703955;11907109;11935032;12297042;1374449;14512306;14576072;15277234;17543136;18615643;18675632;1968911;19752320;19812597;20504838;20549317;21103413;21297967;21382035;22490516;8773354;8881759 10352278;10388537;10591186;10602019;10712675;10766246;10830953;10835351;10845911;10846180;10906324;10961871;11279101;11353828;11477072;11544294;11700305;11707406;11714770;11745332;11751951;11753075;11781316;11818440;11823004;11831866;11838958;11843895;11857637;11882363;11896403;11914080;11922836;11931654;11937543;11953106;11967116;11986332;12050191;12055249;12056825;12082592;12097820;12139949;12145463;12163503;12171996;12183834;12200369;12207338;12244179;12324470;12368274;12377763;12377933;12377937;12377941;12379807;12390020;12393547;12444150;12477932;12516552;12529399;12576754;12600815;12606711;12617168;12643440;12676940;12682249;12694184;12731070;12760968;12771186;12816955;12824186;12847278;12878157;12885870;12885943;12952972;12960243;1346613;1347532;1352501;13679375;14576361;14676297;14702039;14702343;14722085;14748512;14769799;15090462;15181567;15187162;15235127;15241561;15258348;15294914;15304494;15328156;15454120;15485828;15489334;15558232;15615722;15641787;15665082;15741160;15802551;1590804;15958383;15965234;16037628;16239529;16335952;16344560;16403785;16415171;16467205;16492228;16505487;16506060;1674496;16762342;16764927;16774752;16782049;16831868;1683838;16846215;16901728;16915040;1694220;16963453;17016617;17107954;17222807;17311314;17321526;17346796;17468108;17522381;17531998;17591777;17635865;17644514;17673459;17676580;17703412;17716608;17719638;17721605;17726152;17875809;17900957;17996943;18029348;18032709;18057877;18065787;18076013;18164590;18174366;18191791;18199704;18239087;18279666;18306933;18322203;18367725;18369341;18375764;18397383;18414903;18495784;18509085;18550856;18568448;18617697;18626404;18636124;18644795;18676132;18685529;18714035;18755982;18789886;18802065;18818407;18820737;18829897;18842294;18922916;18941116;18955128;19029120;19052753;19056482;19073595;19086264;19135988;19136961;19139946;19175917;19234188;19234460;19258923;19261694;19264679;19290459;19307784;19340879;19353220;19353432;19360456;19372141;19372628;19420105;19423540;19446361;19568411;19571252;19578796;19617577;19647987;1967280;19721069;19728062;19730683;19750481;19800635;19821948;19863185;19864611;19913121;19946888;20007244;20008295;20033057;20130240;20187292;20201926;20233927;20237496;20362473;20406964;20409465;20438785;20445017;20503287;20511548;20529581;20580686;20618153;20628086;20661303;20665668;20677014;20679211;20739459;20802378;20805842;20826754;20945386;20953905;21030716;21037509;21078912;21135163;21152086;21193407;21200022;21244370;21269583;21270398;21454358;2150484;21511340;21536861;21597477;21605078;21610569;21651795;21676865;21705617;21712539;21840991;21856004;21874872;21876037;21890473;22017400;22052909;22083532;22095715;22134107;22156198;22190034;22232682;22393018;22396536;22505724;22697794;22707713;22778269;22844116;22888138;22893614;22908191;22911848;22933624;23001012;23039186;23097489;23133361;23144497;23180820;23184931;23206327;23210443;23234758;23243275;23386618;23388428;23442854;23451151;23460610;23469114;23532856;23581432;23595985;23645883;23803696;23874603;23921155;23960033;23981064;24006483;24189493;24500432;2454931;24816145;24829201;24889201;2954816;3028646;3073708;3305706;3594570;7514637;7621072;7642561;7686755;7822326;8125298;8558011;8568270;8649427;8706128;8757599;8777714;8995416;9419363;9442085;9736715;9765275;9786897;9884339 3689 A8MVG7;A8MYE6;B4E0R1;E5RFI0;E5RGK9;E5RHE6;E5RHT0;E5RIE4;E5RIG7;E5RK25;E5RK54;E7EVZ9;J3KNI6;P05107 AB208909;ABBA01074178;ABBA01074179;AF016894;AK095992;AK097216;AK097864;AK128344;AK222505;AK303488;AL163300;AL773603;AL844907;AL844908;AMYH02037921;AU279404;BC005861;BC021077;CH471079;DA200537;KC877928;L78790;M15395;NG_007270;NM_000211;NM_001127491;S81234;X64072;XM_006724001;Y00057 AAA59490;AAB21404;AAH05861;AAH21077;AAL14027;AAL40068;ABM83610;ABM86853;ACE87021;ACE87708;BAD92146;BAD96225;BAG53190;BAG64523;CAA45427;CAA68266;CAB90553;EAX09381;EAX09382;EAX09383;EAX09384;EAX09385;NP_000202;NP_001120963;P05107;XP_006724064 Hs.375957 1654693;1694896;1722257;1741611;1741801;1743771;1760181;1791872;1791874;2121467;2133796;2217498;5114045 G44333;G60035;GDB:181564;GDB:185175;GDB:373059;ITGB2_2800;PMC129056P1;PMC129056P2;RH93593;SHGC-132463;SHGC-32286;SHGC-87704;STS-M15395 CD18;LAD;LCAMB;LFA-1;MAC-1;MF17;MFI7 OTTHUMP00000115278;OTTHUMP00000115279;OTTHUMP00000115280;OTTHUMP00000115281;OTTHUMP00000115282;cell surface adhesion glycoprotein LFA-1/CR3/P150,959 beta subunit precursor);cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta;complement receptor C3 beta-subunit;complement receptor C3 subunit beta;integrin beta chain, beta 2;integrin beta-2;integrin, beta 2 (antigen cd18 (p95), lymphocyte function-associated antigen 1;leukocyte cell adhesion molecule CD18;leukocyte-associated antigens CD18/11A, CD18/11B, CD18/11C;macrophage antigen 1 (mac-1) beta subunit) APPROVED protein-coding ENSG00000160255 HGNC:6155 02506 116920;600065 REVIEWED 1348863 ITGBL1 integrin, beta-like 1 (with EGF-like repeat domains) This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 13 13 13 q33 82947678 83211592 + 102104944 102373207 + 101452576 101720857 + 1580863;6480464;8554872 10051402;11572973;12364586;12477932;14702039;15342556;16344560;19240061;19913121;20628086;21284329;23145134;23192594;23251661;24132900 9358 B4DN32;O95965;U3KPX5 AB008375;ABBA01027080;ABBA01027081;ABBA01027082;AE014293;AF072752;AK026784;AK075136;AK095875;AK291340;AK297744;AK298571;AK308194;AL139800;AL160153;AL355807;AL359052;AL527690;AMYH02028617;AMYH02028618;AMYH02028619;AMYH02028620;BC036788;BP284376;BQ014290;CA431258;CA436890;CD110646;CH471085;DA578691;DA661036;DA863037;EL948537;KF511191;NM_001271754;NM_001271755;NM_001271756;NM_004791;XM_005254100 AAD17666;AAH36788;AAN16024;BAA22994;BAF84029;BAG53153;BAG60094;BAG60764;CAB94388;EAX09052;EAX09053;NP_001258683;NP_001258684;NP_001258685;NP_004782;O95965;XP_005254157 Hs.696554 1652674;1662263;1682557;1732313;1736348;1775529;1850021;2159971;2162939;2174396;2177338;2189885;2190013;2190059;2190061;2190063;2190065;2190119;2190199;2190219;2190221 8-102;99-26135;99-31734;99-31736;99-31764;99-31780;99-62629;99-79413;99-79468;99-79473;A006W15;D11S1844;D13S859E;G30567;RH69618;RH78346;RH92181;SHGC-17222;SHGC-8457;SHGC-8465;WI-21803 OSCP;TIED ITGBL1, integrin beta-like 1;OTTHUMP00000018659;integrin beta-like protein 1;osteoblast-specific cysteine-rich protein;ten integrin EGF-like repeat domain-containing protein;ten integrin EGF-like repeat domains protein protein-coding ENSG00000198542 HGNC:6164 07253 604234 REVIEWED 1314518 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 The protein encoded by this gene is the heavy chain of a serine protease inhibitor that may serve to carry hyaluronan in plasma. This gene is part of a cluster of similar genes on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 3 3 3 p21.1 52790329 52804798 + 52811602 52826084 + 52777586 52792068 + 1580863;6480464;8554872 10100603;11807786;12477932;12754519;1380832;1384548;1385302;14718574;14760718;15174051;15489334;16344560;17675295;18226209;18624398;19367581;19416921;21926972;21939789;23750785;23974872;24005673;24166486;2446322;2465147;2471637;2476436;3663330;7504674;7505744;7513643;7522574;7535743;7592891;7681778;9425062;9677337;9692908;9756925 3697 B5MCP1;B7Z8B6;F8WAS2;H7C0N0;H7C5I0;P19827 AA897466;ABBA01024498;AC006254;AF116713;AK292750;AK298398;AK298423;AK298455;AK303110;AK303156;AK314198;AMYH02006815;BC069464;BC109115;BX496392;CH471055;DB188130;M18192;NG_016005;NM_001166434;NM_001166435;NM_001166436;NM_002215;X16260;X63652;X69532;X75318 AAA60557;AAF71133;AAH69464;BAF85439;BAG36876;BAH12775;BAH12785;BAH12794;BAH13902;BAH13906;CAA34346;CAA45188;CAA49279;CAA53067;EAW65259;EAW65260;EAW65261;NP_001159906;NP_001159907;NP_001159908;NP_002206;P19827 Hs.420257;Hs.76716 1660421;1694886;1725633;1743207;1858317;2122431 G44326;G62028;GDB:303926;SHGC-11985;SHGC-77008;STS-X69532 H1P;IGHEP1;ITI-HC1;ITIH;MGC126415;SHAP IATIH;ITI heavy chain H1;OTTHUMP00000197035;inter-alpha (globulin) inhibitor H1;inter-alpha (globulin) inhibitor, H1 polypeptide;inter-alpha-inhibitor heavy chain 1;inter-alpha-trypsin inhibitor complex component III;inter-alpha-trypsin inhibitor heavy chain H1;serum-derived hyaluronan-associated protein APPROVED protein-coding ENSG00000055957 HGNC:6166 00927 147270 REVIEWED 6481341 ITIH4-AS1 ITIH4 antisense RNA 1 p21.1 100873993 AC006254;AI004860;NR_046615 Hs.602700 APPROVED ncrna HGNC:40310 VALIDATED 736631 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 p11.2 32954580 33012639 - 33189246 33247293 - 32900318 32958365 - 1625134;1302874;633055;2325851;2325666;2325325;2325322;2302139;2302389;6480464;6484113;6907045;5135538 10504498;12639933;14984413;15583703;15836982;17543136;19662603;19726708;20187441;9633916 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20133364;20145038;20171211;20178602;20183869;20213106;20231384;20232313;20236590;20237496;20237901;20333644;20336352;20337027;20351310;20352103;20352300;20362630;20388801;20407016;20427540;20432448;20435742;20472470;20485444;20510000;20522645;20531279;20565758;20598296;20607601;20613771;20616308;20624912;20628086;20628624;20634879;20639577;20643357;20650890;20650901;20660204;20661303;20678483;20686611;20693403;20713715;20714794;20723423;20725651;20800221;20802515;20811680;20826546;20869114;20877569;20889506;20947017;21045155;21048156;21053345;21067603;21071450;21112327;21114537;21119363;21119598;21134100;21134644;21135504;21139048;21149578;2116421;21170718;21178109;21195710;21217148;21255062;21298552;21302295;21320503;21321939;21325030;21341269;21344385;21357540;21359179;21359644;21363926;21374738;2138612;21400218;21406228;21426305;21429937;21441381;21471204;21474814;21478906;21501586;21521694;21524887;21558392;21567400;2156854;21606500;21613543;21618249;21630092;21639857;21642953;21647271;21652699;21658756;21691075;21701559;21705617;21732280;21747167;21762625;21772312;21784851;21787362;21799154;21850018;21876768;21890473;21906983;21947080;21951552;21961047;21963094;21967109;21987572;21988832;22002573;22015659;2202737;22027826;22045736;22100988;22114305;22130661;22136719;22151306;22160595;22232555;22241990;22247553;22266309;22268729;22287577;22298882;22304920;22345562;22349830;22353524;22361176;22370635;22374686;22378044;22378065;22382453;22384145;22386417;22388103;22389402;22396498;22402981;22422622;22423313;22449099;22451694;22454518;22461623;22472442;22496232;2249781;22505724;22562249;22590584;22613833;22614033;22627583;22648170;22648415;22711564;22721769;22723286;22734003;22735632;22740085;22829201;22843693;22863953;22865233;22869523;22894137;22898815;22917688;22936677;22939629;22940691;22949126;22986527;22999999;23000965;23007402;23023061;23069938;23074279;23118221;23125415;23132859;23139422;23148235;23152803;23160057;23204528;23208492;23238518;23242739;23248240;23284715;23284937;23289672;23317506;23359252;23416109;23436775;23441154;23444218;23455756;23468528;23482612;23522389;23532895;23536555;23541832;23552693;23558678;23576567;23590307;23595626;23613949;23642664;23664187;23665237;23677397;23687274;23704882;23709605;23762436;23800951;23819010;23857544;23874206;23874603;23884246;23889963;23925489;23936390;23938462;23951036;23991019;24004467;24006483;24036548;24055813;24056178;24086451;24091324;24112102;24122451;24135056;24239175;24244022;24286194;24292944;24311785;24332808;24338844;24386370;24403309;24427350;24440972;24448647;24455846;24478423;24490163;24500283;24501414;24510996;24522833;24550382;24593306;24599548;24599960;24635319;24644284;24667602;24790104;24816145;24829201;24833794;24850451;24965773;2524991;2527614;2572537;2649503;2958481;2967289;3546305;7504269;7523423;7539135;7541634;7544298;7545396;7559467;7657702;7681433;7690138;7768999;8120056;8163531;8245132;8387021;8428973;8444890;8537347;8538749;8567725;8630057;8649427;8757325;8757349;8757599;8798654;8831898;8838570;8889548;9117345;9281591;9281592;9295027;9360995;9360996;9415431;9425259;9431988;9442085;9494094;9501082;9517988;9547293;9552005;9565552;9614184;9645947;9660880;9685391;9686320;9688542;9722563;9736715;9812906;9813091;9889149;9914169;9916748 3688 C9JJP8;C9JNE0;C9JPK5;E7EQW5;E7ERX5;E7EUI6;E9PLR6;E9PQJ2;H7C4K3;H7C4N8;P05556;Q5T3E4;Q5T3E5;Q5T3E6 ABBA01033378;AI261443;AK291697;AL365203;AL710802;AMYH02022586;AMYH02022587;BC020057;BC113901;BM791591;BM973433;BX537407;CH471072;CX868374;CX871886;DA600874;DB063946;DB292597;M34189;M84237;NG_029012;NM_002211;NM_033668;NM_133376;U28252;U33879;U33880;U33882;X68969;XM_005252448 AAA59182;AAA74402;AAA74403;AAA79832;AAA79833;AAA79834;AAA79835;AAA81366;AAH20057;AAI13902;ABM81995;ABM85177;BAF84386;CAD97649;CAL38075;EAW85948;EAW85949;EAW85950;EAW85951;EAW85952;EAW85953;EAW85954;EAW85955;EAW85956;EAW85957;EAW85958;EAW85959;EAW85960;NP_002202;NP_391988;NP_596867;P05556;XP_005252505 Hs.643813 1676176;1684892;1691054;1741585;1748473;1794814;1796138;2130592;2166920;2176972;5023258 D10S2354;D10S2370;G15908;GDB:181546;ITGB1_1823;PMC59887P1;RH40308;RH47140;RH47472;SHGC-32719;STS-M34189 CD29;FNRB;GPIIA;MDF2;MSK12;VLA-BETA;VLAB OTTHUMP00000019420;VLA-4 subunit beta;fibronectin receptor beta subunit;fibronectin receptor subunit beta;glycoprotein IIa;integrin VLA-4 beta subunit;integrin beta 1;integrin beta-1;very late activation protein, beta polypeptide APPROVED protein-coding ENSG00000150093 HGNC:6153 00628 135630 REVIEWED 1606774 ITIH5 inter-alpha-trypsin inhibitor heavy chain family, member 5 This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 10 10 10 p14 7527158 7634731 - 7601232 7708961 - 7559270 7666998 - 6480464;8554872 11853319;12477932;12975309;14702039;14744536;16303743;16344560;16385451;17653090;18226209;18810445;19809427;20200953;20379614;21852814;22616691;22990118;24265292 80760 C9J2H1;G5E9D8;H7C5A6;Q86UX2;Q96JW9 AB075833;ABBA01034737;ABBA01034738;ABBA01034739;AF318347;AK027375;AK027547;AK027831;AK027849;AK075381;AL079707;AL158044;AL355374;AL833203;AMYH02022080;AMYH02022081;AMYH02022082;AMYH02022083;AMYH02022084;AY238437;AY358426;BC004282;BC050649;BC069714;BC136439;BC142961;BE898209;BQ183379;CH471072;CR627109;DA246953;DA833541;DA839345;DB079183;KF570249;NM_001001851;NM_030569;NM_032817 AAI67770;AAL55854;AAO49812;AAQ88792;BAB55070;BAB55397;BAB55409;BAB85539;CAH10363;EAW86379;EAW86380;EAW86381;EAW86382;EAW86383;NP_001001851;NP_085046;NP_116206;Q86UX2 Hs.498586;Hs.732936 1779340;1781972;1782180;2184030;5015961;5024761;5037552;5109281 D15S1477;D1S1425;D8S2279;RH36905;SHGC-142688;SHGC-153339;SHGC-156068;STS-N26407 DKFZp686F0145;ITI-HC5;MGC10848;PP14776 ITI heavy chain H5;OTTHUMP00000019062;OTTHUMP00000019064;inter-alpha (globulin) inhibitor H5;inter-alpha trypsin inhibitor heavy chain precursor 5;inter-alpha-inhibitor heavy chain 5;inter-alpha-trypsin inhibitor heavy chain H5 APPROVED protein-coding ENSG00000123243 HGNC:21449 07865;13747 609783 REVIEWED 1345462 ITIH6 inter-alpha-trypsin inhibitor heavy chain family, member 6 The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009] X X X p11.22-p11.21 58607891 58657233 - 54775332 54824673 - 54748899 54798240 - 8554872 12975309 347365 Q6UXX5 ABBA01069589;ABBA01069590;ABBA01069591;ABBA01069592;ABBA01069593;ABBA01069594;ABBA01069595;AL022575;AMYH02039494;AY358170;CA413764;CH471154;NG_013240;NM_198510;Z98046 AAI56206;AAI57043;AAQ88537;EAW93186;EAW93187;EAW93188;NP_940912;Q6UXX5 Hs.454272 1702322;1767268;2121082;2143983 AL023600;DXS674;DXS6955;X99129 ITIH5L;UNQ6369;dJ14O9.1 ITI-like protein;OTTHUMP00000023380;inter-alpha inhibitor H5-like protein;inter-alpha-trypsin inhibitor heavy chain H5-like protein;inter-alpha-trypsin inhibitor heavy chain H6 APPROVED protein-coding ENSG00000102313 HGNC:28907 17164 REVIEWED 737492 ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4 The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 3 3 3 p21.1 52825723 52843435 - 52847006 52864717 - 52812990 52830701 - 633094;1582334;1580863;1627650;6480464;7240710;8554872 10486281;14661079;9480842 12147176;12477932;12754519;14718574;14760718;16271702;16335952;18029348;18455532;18624398;19056867;19263524;19367581;21331437;21926972;21926974;21988832;22610502;23125841;23128233;23417432;23436019;23750785;23974872;7541790;7587397;7775381;7805892;8797089;9126497;9756925 3700 B2RMS9;B7ZKJ8;H7C0L5;Q14624 AB209388;ABBA01024498;AC006254;AI217735;AK298407;AK298412;AK298429;AK303769;AMYH02006815;AW291001;BC136392;BC136393;BX477542;BX647322;CH471055;D38595;DC412911;KC876888;NG_016006;NM_001166449;NM_002218;U43163 AAD05198;AAI36393;AAI36394;BAA07602;BAD92625;BAH12780;BAH12781;BAH12787;BAH14043;EAW65264;EAW65265;NP_001159921;NP_002209;Q14624 Hs.709406 1681600;1709892;1791644;1791646;1791648;1791650;1791652;1791654;1791656;1791658;1791660;1791662;1791664;1791666;1791668;1791670;1791672;1791674;1791676;1791678;1791680;1791682;1791684;1791686;1791688;1791690;1791692;1855956;2107235;2158028;2173986;2178642 A005P36;A008L08;ITIH4__6481;PMC117798P1;PMC117798P10;PMC117798P11;PMC117798P12;PMC117798P13;PMC117798P14;PMC117798P15;PMC117798P16;PMC117798P17;PMC117798P18;PMC117798P19;PMC117798P2;PMC117798P20;PMC117798P21;PMC117798P22;PMC117798P23;PMC117798P24;PMC117798P25;PMC117798P3;PMC117798P4;PMC117798P5;PMC117798P6;PMC117798P7;PMC117798P8;PMC117798P9;RH36516;RH93187;SHGC-53936;SHGC-84788 DKFZp686G21125;GP120;H4P;IHRP;ITI-HC4;ITIHL1;PK-120;PK120 ITI heavy chain H4;OTTHUMP00000197120;OTTHUMP00000197121;OTTHUMP00000213834;OTTHUMP00000213869;inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein);inter-alpha-inhibitor heavy chain 4;inter-alpha-trypsin inhibitor family heavy chain-related protein;inter-alpha-trypsin inhibitor heavy chain H4;inter-alpha-trypsin inhibitor, heavy chain-like, 1;inter-alpha-trypsin inhibitor, heavy chain-related protein;plasma kallikrein sensitive glycoprotein 120;plasma kallikrein-sensitive glycoprotein 120 APPROVED protein-coding ENSG00000055955 HGNC:6169 02781 143890;600564 REVIEWED 1345234 ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009] 10 10 10 p15 7671050 7717293 + 7745236 7791483 + 7703273 7749520 + 1580863;6480464;8554872 10100603;10917520;12068291;12477932;12754519;1384548;1385302;14718574;14744536;15840581;16169070;16335952;16385451;16702221;16712791;18382897;18425383;20297716;21939789;22116950;23750785;23956138;2446322;2450046;2462430;2465147;2476436;24816145;3663330;7504674;7513643;7516184;7682553;8125298;8601712;9425062;9514613;9677337 3698 P19823;Q5T985;Q5T987 AA406494;ABBA01034736;ABBA01034737;AK225277;AK225329;AK291379;AK297334;AL158044;AMYH02022084;AMYH02022085;BC132685;BG617651;CB154170;CH471072;M18193;M33033;NM_002216;X07173 AAA59195;AAA60558;AAI32686;BAF84068;BAG59791;CAA30160;EAW86376;EAW86377;EAW86378;NP_002207;P19823 Hs.75285 1650571;1653784;1676516;1742245;1764055;1767345;5122214 D10S2422;GDB:193869;RH1571;RH65884;RH69773;SHGC-147714;WI-17151 H2P;SHAP ITI heavy chain H2;ITI-HC2;OTTHUMP00000019058;OTTHUMP00000019059;inter-alpha (globulin) inhibitor H2;inter-alpha (globulin) inhibitor, H2 polypeptide;inter-alpha-inhibitor heavy chain 2;inter-alpha-trypsin inhibitor complex component II;inter-alpha-trypsin inhibitor heavy chain H2;serum-derived hyaluronan-associated protein APPROVED protein-coding ENSG00000151655 HGNC:6167 00890 146640 VALIDATED 1346201 ITLN1 intelectin 1 (galactofuranose binding) ENCODES a protein that exhibits carbohydrate binding (inferred); INVOLVED IN positive regulation of glucose import; positive regulation of protein phosphorylation; response to nematode (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; receptor complex; brush border membrane (ortholog); INTERACTS WITH crocidolite asbestos; hydrogen peroxide; pioglitazone 1 1 1 q21.3 133914518 133923141 - 160846330 160854960 - 160876540 160885170 - 1580863;6480464;8554872 11181563;11313366;11747454;12477932;12975309;14702039;14720597;15489334;15777968;16261254;16386808;16531507;17207965;17295929;17311679;17329619;18174521;18587394;18832735;19000584;19056867;19179460;19665576;19760754;19913121;20014019;20129687;20473688;20488498;20628086;20682687;20823688;20852028;21072187;21082206;21102463;21374544;21442174;21497934;21514279;21602837;21720428;21750093;21814208;21865408;21925659;21935388;22032341;22081609;22083213;22108456;22222234;22277902;22554771;22573572;22647378;22714099;22721676;22768319;22801013;22813935;22842465;22952622;23072466;23128233;23144698;23178529;23291856;23303213;23474107;23490415;23532633;23538212;23555749;23605136;23643964;23839538;23959732;24011638;24085389;24768874;8125298 55600 Q5IWS5;Q8WWA0 AB036706;ABBA01016608;AF271386;AK000029;AK222533;AL354714;AMYH02002028;AY065972;AY157361;AY157362;AY358359;AY549722;AY619691;AY619692;BC020664;CH471121;CR457224;NM_017625 AAH20664;AAL58073;AAM20741;AAO17800;AAO17801;AAQ88725;AAS49907;AAU88047;AAU88048;ACE87013;ACE87701;ADQ32186;BAA90893;BAA96094;BAD96253;CAG33505;EAW52688;EAW52689;EAW52690;NP_060095;Q8WWA0 Hs.50813 2134638 SHGC-56818 FLJ20022;HL-1;HL1;INTL;ITLN;ITLN-1;LFR;hIntL OTTHUMP00000027882;endothelial lectin HL-1;galactofuranose-binding lectin;intelectin-1;intestinal lactoferrin receptor;omentin protein-coding ENSG00000179914 HGNC:18259 17165 609873 VALIDATED 1353033 ITLN2 intelectin 2 ENCODES a protein that exhibits carbohydrate binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH silicon dioxide; ferroheme b (ortholog); heme b (ortholog) 1 1 1 q22-q23 133983011 133992784 - 160914810 160924589 - 160945020 160954799 - 1580863;6480464;8554872 11181563;12477932;12975309;18029348;19913121;20628086;20682687;23643964 142683 Q8WWU7 ABBA01016608;AL354714;AL591806;AMYH02002028;AY065973;AY358905;BC117225;BC143339;BC143341;CH471121;NM_080878;XM_006711170;XM_006711171 AAI17226;AAI43342;AAL58074;AAQ89264;ADR82947;EAW52685;NP_543154;Q8WWU7;XP_006711233;XP_006711234 Hs.385631 HL-2;HL2 OTTHUMP00000027883;endothelial lectin HL-2;intelectin-2 protein-coding ENSG00000158764 HGNC:20599 17166 609874 VALIDATED 5133404 ITM2BP1 integral membrane protein 2B pseudogene 1 17 17 17 22801434 22802112 - 25939599 25940277 - 27612573 27613251 - 100420308 ABBA01015068;AC015688;AMYH02033211;NG_026163 HsT33912;ITM2BP APPROVED pseudo HGNC:20919 INFERRED 1353059 ITM2B integral membrane protein 2B Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009] 13 13 13 q14.3 29861986 29890942 + 48807274 48836232 + 48233138 48262096 + 1358403;1580863;6480464;7240710;8554872;8699517 11159188 10391242;10526337;10781099;10931946;12082633;12196136;12477932;12903036;14586629;14656991;15489334;15968464;15983050;16027166;16344560;16612984;17965014;18029348;18282158;18440095;18524908;19056867;19072909;19114711;19366692;19748705;19849849;19946888;20036644;20600910;20972266;21048150;21139048;21587206;21752865;21841249;21873424;21875946;21890473;21906983;21963094;22053931;22190034;22194595;22505724;23000965;23261769;23418567;23701002;24026677;24099305;25015289;5466275;9795190 9445 Q9Y287;U3KQ52;U3KQL7 ABBA01051004;AF086918;AF092128;AF136973;AF152462;AF246221;AK000503;AK027411;AK130048;AL139322;AMYH02028001;AY341247;BC000554;BC016148;BC018053;BT006863;CH471075;DA087198;NG_013069;NM_021999 AAD40370;AAD45280;AAF66130;AAG49434;AAH00554;AAH16148;AAP35509;AAP88930;AAP97148;ABM84685;ABM92208;BAA91210;EAX08788;EAX08789;EAX08790;EAX08791;NP_068839;Q9Y287 Hs.643683 1342411;1644350;1651491;1736338;2165986;2177040;2177577;5109753 A002O26;D13S1155;D13S164;D13S841E;D13S864E;RH44653;RH44780;SHGC-34192 ABRI;BRI;BRI2;BRICD2B;E25B;E3-16;FBD;imBRI2 ABri/ADan amyloid peptide;BRICHOS domain containing 2B;OTTHUMP00000018394;OTTHUMP00000018395;immature BRI2;transmembrane protein BRI APPROVED protein-coding HGNC:6174 04878 117300;176500;603904 REVIEWED 1319877 ITM2C integral membrane protein 2C ENCODES a protein that exhibits beta-amyloid binding; INVOLVED IN negative regulation of neuron projection development; neuron differentiation; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; Golgi apparatus; lysosome; INTERACTS WITH 17beta-estradiol; 2-methylcholine; aflatoxin B1 2 2 2 q37 225506038 225520369 + 231729546 231743963 + 230864598 230879254 + 1298632;1580863;6480464;8554872 9653160 11042152;11230166;11256614;11290423;12477932;14592447;14702039;15489334;15606899;16169070;16189514;16303743;16341674;16344560;17215244;18452648;19056867;19114711;19366692;19849849;19851296;20198315;20467438;21139048;21875946;21890473;21906983;21963094;22505724;23000965;25015289;7566098;7757816;7938007;8125298;8702637 81618 B8ZZM6;C9JG41;E7EUS6;F5H4I5;Q9NQX7 AB003629;ABBA01050110;AC012507;AF271781;AF272043;AK056321;AK075361;AK090975;AK126739;AK222697;AK295503;AK303199;AK307702;AL136603;AL713651;AMYH02005960;AY049777;BC002424;BC025742;BC050668;BC098563;BM842614;BX444331;CH471063;CR457208;CR749389;D87062;DA138409;DA182471;NM_001012514;NM_001012516;NM_001287240;NM_001287241;NM_030926 AAF89492;AAG44792;AAH02424;AAH25742;AAH50668;AAH98563;AAL15434;ACE86530;ACE86970;ACE87209;ACE87232;ACE87660;ADQ33057;BAB46918;BAB46927;BAC03562;BAC11570;BAD96417;BAG51676;BAG58423;BAG64290;CAB66538;CAD28460;CAG33489;EAW70934;EAW70935;EAW70936;EAW70937;EAW70938;NP_001012532;NP_001012534;NP_001274169;NP_001274170;NP_112188;Q9NQX7 Hs.111577 1697518;1730297;1734918;1739291;2108175;2110975;5014051;5015619;5022200;5022651;7184701 D11S2921;D11S3114;D2S1689E;D2S186E;D2S1954E;D2S232E;D8S2278;ITM2C_8105;L18426;RH102262 BRI3;BRICD2C;E25;E25C;ITM3 BRICHOS domain containing 2C;OTTHUMP00000164292;OTTHUMP00000204434;OTTHUMP00000204435;OTTHUMP00000204436;OTTHUMP00000204437;OTTHUMP00000237323;cerebral protein 14;hRPC.1050_D_4;integral membrane protein 3;transmembrane protein BRI3 protein-coding ENSG00000135916 HGNC:6175 17167 609554 VALIDATED 1323169 ITK IL2-inducible T-cell kinase This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008] 5 5 5 q31-q32 152634440 152708658 + 156607907 156682109 + 157180896 157255099 + 1580863;6480464;6484113;6907045;7240710;8554872;8699517 10022833;10048424;10506192;10556826;10586033;10587356;10636929;10958690;11048639;11437596;11581171;11598012;11830645;12163161;12186560;12190313;12445832;12477932;12573241;15144186;15184383;15388330;15489334;15761153;16159638;16273093;16931156;17060314;17192257;17237383;17652306;17724684;17897671;18067320;18155796;18322190;18443296;18596081;19222422;19240061;19425169;19523959;19535334;19701889;19714314;19717557;19807924;20098747;20305788;20439541;20457812;20596523;20842205;21280324;21323647;21368711;21674762;21725281;22289921;22302878;22449075;22505724;22745667;22829599;22939624;22974441;23260110;23293025;23454662;24076779;24376268;24462896;24816145;7567982;7829087;8364206;8504851;8629002;8630736;8810341;8892607;8985255;8992971;9312162;9677430 3702 E5RFR5;E5RJY4;Q08881 AB209622;ABBA01044272;ABBA01044273;AC010609;AK303609;AK311654;AK312846;AMYH02012548;AMYH02012549;AMYH02012550;BC109077;BC109078;BX538196;CH471062;D13720;KF510897;NG_016276;NM_005546 AAI09078;AAI09079;BAA02873;BAD92859;BAG35699;BAG64622;CAD98063;EAW61608;NP_005537;Q08881 Hs.558348 2120646;5020948 G35510;RH68205 EMT;LPFS1;LYK;MGC126257;MGC126258;PSCTK2 IL-2-inducible T cell kinase;IL-2-inducible T-cell kinase;OTTHUMP00000160737;T-cell-specific kinase;homolog of mouse T-cell itk/tsk;interleukin-2-inducible T cell kinase;interleukin-2-inducible T-cell kinase;kinase EMT;tyrosine-protein kinase ITK/TSK;tyrosine-protein kinase LYK APPROVED protein-coding ENSG00000113263 HGNC:6171 01746 186973;613011 REVIEWED 1348154 ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 20 20 20 p 3252018 3266469 + 3189514 3204516 + 3208719 3223870 + 1300199;1580863;6480464;6907045;7240710 11278832 11752456;11780052;1204209;12384777;12436200;12477932;15167706;15322947;15489334;15564886;15571265;15571266;15946879;15973722;16214825;16431304;16611274;1667585;16947783;17077483;17113761;17138556;17304144;17530705;17697198;18029348;18223458;18240903;18685564;18823306;19129747;19193698;19214663;19229528;19579612;19631656;19682085;19858780;19914375;19956635;20045992;20173735;20308917;20393862;20547162;20637204;20930204;20977565;21139048;21246582;21612542;21659334;21703177;21817190;21890473;21906983;21963094;22052220;22060550;22189977;22225964;22272297;22384212;22430973;22460221;22505724;22554247;22584257;22585729;22939629;23000965;23126166;23139603;23195617;23301546;23528839;23538996;23547827;23730840;23770441;23850877;23933495;23960450;24449403;24519039;487601 3704 Q9BY32 AB062127;AB196785;ABBA01053815;ABBA01053816;ABBA01053817;ABBA01053818;AF026816;AF063607;AF219116;AF334680;AK309165;AL109976;AL121891;AMYH02036595;AV694278;BC010138;BF969192;BI115811;BM560812;BQ049090;CA425905;CH471133;EF199841;EF213026;NG_012093;NM_001267623;NM_033453;NM_181493;NR_052000;NR_052001;NR_052002;XM_006723564;XM_006723565 AAB82608;AAG43165;AAH10138;AAK21848;AAL57168;ABM87124;ABO70316;ABP01354;ABW03835;BAB93459;BAD81025;EAX10540;EAX10541;EAX10542;NP_001254552;NP_258412;NP_852470;Q9BY32;XP_006723627;XP_006723628 Hs.415299 1674737;2151225;2153082 RH64146;RH66161;STS-AA026396 C20orf37;HLC14-06-P;My049;dJ794I6.3 ITPase;NTPase;OTTHUMP00000030094;OTTHUMP00000160459;inosine triphosphatase-A;inosine triphosphate pyrophosphatase;inosine triphosphate pyrophosphohydrolase;non-canonical purine NTP pyrophosphatase;non-standard purine NTP pyrophosphatase;nucleoside triphosphate diphosphatase;nucleoside-triphosphate diphosphatase;nucleoside-triphosphate pyrophosphatase;putative oncogene protein HLC14-06-P APPROVED protein-coding ENSG00000125877 HGNC:6176 08856 147520;613850 REVIEWED 1348492 ITPK1-AS1 ITPK1 antisense RNA 1 INTERACTS WITH hydralazine; valproic acid 14 14 14 q32.12 73587935 73592635 + 93533797 93538497 + 93067452 93072152 + 6480464 319085 ABBA01030443;AK024887;AL117192;AMYH02029768;NR_002808 Hs.612888 C14orf85;ITPK1-AS;ITPK1AS;NCRNA00203 APPROVED ncrna ENSG00000258730 HGNC:20132 VALIDATED 1354301 ITM2A integral membrane protein 2A This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] X X X q13.3-Xq21.2 78856181 78863347 - 78615881 78623164 - 79360384 79367552 - 1580863;6480464 10432285;11042152;12477932;12975309;15489334;15772651;15983050;16344560;18029348;18391951;19541402;21906983;22505724;23612905;24457600;8125298;8570611;8702637;9653160;9892734 9452 O43736 AB209310;ABBA01030198;AF038953;AK223327;AK303238;AK313154;AL009028;AL021786;AMYH02039833;AY359051;BC010511;BC034485;BC040437;BG506587;BM561934;CH471104;CR456875;DA365726;NG_016412;NM_001171581;NM_004867;U38439 AAC39867;AAH40437;AAQ89410;ABZ92512;BAD92547;BAD97047;BAG35972;BAG64324;CAG33156;EAW98590;EAW98591;NP_001165052;NP_004858;O43736 Hs.17109;Hs.694944 1702974;5022800;5096435 DXS346;ITM2A;WI-20932 BRICD2A;E25A BRICHOS domain containing 2A;OTTHUMP00000023601 APPROVED protein-coding ENSG00000078596 HGNC:6173 02200 300222 REVIEWED 732603 ITPKA inositol-trisphosphate 3-kinase A Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011] 15 15 15 q15.1 18554082 18563706 + 41786056 41795757 + 41493858 41503559 + 1580863;1300048;6480464;6907045 11468283;12202356;12477932;12747803;1330886;15350214;15489334;16525636;1654894;1660262;18187620;1847047;18498254;20022963;2167676;2175886;2176078;21792881;22558309;23128233;2824270;9155020;9374536 3706 C9JC74;P23677 ABBA01038404;AC087721;AMYH02030271;BC026331;CH471125;DB543073;NM_002220;X54938;XM_005254348 AAH26331;CAA38700;EAW92493;NP_002211;P23677;XP_005254405 Hs.2722 1670691;1678209;1778234;1847315;2161114;2166326;7186318 G06356;RH78391;RH80861;SHGC-30069;STS-T16315;STS-X54938 IP3-3KA;IP3K A;IP3KA IP3 3-kinase A;OTTHUMP00000160863;inositol 1,4,5-trisphosphate 3-kinase A;insP 3-kinase A APPROVED protein-coding ENSG00000137825 HGNC:6178 00941 147521 REVIEWED 6481342 ITPKB-AS1 ITPKB antisense RNA 1 q42.12 10737800 100873994 AL365444;AW859650;BE071806 APPROVED ncrna HGNC:40312 5132519 ITPKB-IT1 ITPKB intronic transcript 1 (non-protein coding) 1 1 1 q42.13 200035260 200053686 - 226843781 226862769 - 226656080 226675068 - 22589738 100506443 ABBA01009634;AL365444;AMYH02002818;BI116225;BI906918;NR_103784 Hs.664293 2114471 SHGC-56734 ncrna HGNC:41349 VALIDATED 1312967 ITPK1 inositol-tetrakisphosphate 1-kinase ENCODES a protein that exhibits ATP binding (inferred); catalytic activity (inferred); inositol tetrakisphosphate 1-kinase activity (inferred); INVOLVED IN blood coagulation (inferred); dephosphorylation (inferred); inositol phosphate metabolic process (inferred); PARTICIPATES IN inositol phosphate metabolic pathway; phosphatidylinositol 3-kinase signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; afimoxifene 14 14 14 q31 73457398 73636400 - 93403259 93582263 - 92936914 93115918 - 1580863;6480464;6907045;8554872 11042108;11533064;11909533;12324474;12477932;12925536;15489334;15762844;15837423;16189514;17616525;19724895;19851296;20198315;20379614;22139419;22308441;22928859;23408906;23472165;24816145;8662638 3705 G3V3C0;G3V4M9;G3V588;G3V5A3;Q13572 AA770154;ABBA01030441;ABBA01030442;ABBA01030443;AF279372;AK293515;AL110118;AL117192;AMYH02029767;AMYH02029768;AY129028;BC003622;BC007428;BC018192;BC037305;BQ434653;BX420122;CB997740;CH471061;NM_001142593;NM_001142594;NM_014216;U51336 AAC50483;AAG44835;AAH03622;AAH07428;AAH18192;AAH37305;AAM98771;ABM82360;ABM85535;BAG56998;EAW81507;EAW81508;EAW81509;EAW81510;EAW81511;EAW81512;EAW81513;NP_001136065;NP_001136066;NP_055031;Q13572 Hs.308122 1647563;1648805;1652601;1658731;1673600;1851286;5022200;5022450;5037552 D10S275;D14S688E;D8S2279;G17828;IB3705;L18426;RH11187;SHGC-31416;WI-22730 ITRPK1 OTTHUMP00000245496;OTTHUMP00000245497;OTTHUMP00000245498;OTTHUMP00000245499;OTTHUMP00000245668;inositol 1,3,4-triphosphate 5/6 kinase;inositol 1,3,4-trisphosphate 5/6 kinase;inositol 1,3,4-trisphosphate 5/6-kinase;inositol-triphosphate 5/6-kinase;ins(1,3,4)P(3) 5/6-kinase APPROVED protein-coding ENSG00000100605 HGNC:6177 03501 601838 VALIDATED 1345351 ITPKC inositol-trisphosphate 3-kinase C This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009] 19 19 19 q13.1 38023433 38047190 + 41222885 41246765 + 40716980 40740860 + 1580863;6480464;7240710 11085927;12477932;12747803;15489334;16740130;18084290;20045869;20379614;20805785;21533171;21987091;21988832;22081228;22161096;22361738;22498790;22610085;23065250;23443559;23747857;23894522 80271 M0R2L7;Q96DU7 ABBA01040786;AC010412;AC020945;AC098782;AJ290975;AK024596;AMYH02036123;BC026903;BC060788;CH471126;D38169;NG_012970;NM_025194;XM_006723404;XR_243961;Y11999 AAH60788;BAA22524;CAA72728;CAC40815;EAW56992;EAW56993;NP_079470;Q96DU7;XP_006723467 Hs.515415 2110981;2176103 D19S387E;SHGC-31377 IP3-3KC;IP3K C;IP3KC IP3 3-kinase C;InsP 3 kinase C;inositol 1,4,5-trisphosphate 3-kinase C;insP 3-kinase C APPROVED protein-coding ENSG00000086544 HGNC:14897 09400 606476;611775 REVIEWED 732978 ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] 3 3 3 p26.1 4473120 4827522 + 4535032 4889524 + 4493348 4847840 + 1556475;1580863;6480870;6480871;6480683;6480678;6480675;6480875;6480464;6480685;5147661;6483009;6482816;6482821;6482813;6482797;6482794;6907045;7240710;7204693;8699517;8554872 10426189;16277603;17285299;19133301;19193873;20082166;20219645;21145001;21555639;21565852;21777465;21859719;7500836;8567977;8819138;9761455 10209024;10724174;10737800;10828023;10843712;10874040;11163362;11329013;11413485;11445634;11524429;11574661;11587548;11723290;11782428;11956293;12032348;12196544;12356940;12444087;12477932;12480535;12525476;12529267;12606542;12611586;12676536;12717445;12754204;12766172;12828938;14505576;14570872;14635192;14685260;14697242;14707143;14761954;14981189;15067324;15104175;15146197;15148151;15613488;15623527;15623688;15652484;16091359;16223735;16237118;16278292;16344560;16454711;16621795;16723353;16793548;16844763;1693919;16990268;16990611;17081983;17130290;17256008;17437169;17502376;17590087;17690304;17696464;17932120;18056410;18250332;18303017;18364356;18579805;18657507;18708078;18990696;19120137;19147678;19240031;19325567;19429868;19666470;19730683;19854836;19934645;19946888;20301317;20301536;20360068;20379614;20395455;20395553;20427533;20437544;20632399;20669319;21046461;21071436;21139048;21367767;21382133;21457704;21762810;21784978;21827915;21963094;22318346;22473799;22761998;22818390;22837378;22855054;22872699;22929228;22986007;23122728;23251661;23535729;23553787;23582047;23955339;23983250;24078636;24602615;24971541;7500840;7559486;7852357;7945203;8132516;8132598;8521476;8648241;8713116;8889548;9278393;9346894;9511764;9607712;9808459;9853757 3708 B4DER3;B4DGH1;B7ZMI3;E7EVP7;Q14643;Q59H91 AB208868;ABBA01020466;ABBA01020467;ABBA01020468;ABBA01020469;ABBA01020470;AC018816;AC024168;AC069248;AC090944;AF009963;AI470158;AK293752;AK294594;AK296235;AK309981;AK311008;AL832689;AL832701;AMYH02006182;AMYH02006183;AMYH02006184;AW501800;BC144563;BG202086;BM695661;BQ006717;CH471055;CN431631;CV355426;D26070;DA060305;DB260851;DB544988;DB576768;KF457534;KF457537;KF457539;KF457541;KF457546;KF495812;L38019;L47220;NG_016144;NM_001099952;NM_001168272;NM_002222;S82269;U23850;XM_005265109;XM_005265110;XM_006713131;XM_006713132;XM_006713133;XM_006713134;XM_006713135;XM_006713136 AAB04947;AAD14386;AAI44564;BAA05065;BAD92105;BAG57174;BAG57782;BAG58955;EAW63908;EAW63909;EAW63910;EAW63911;EAW63912;EAW63913;EAW63914;EAW63915;NP_001093422;NP_001161744;NP_002213;Q14643;XP_005265166;XP_005265167;XP_006713194;XP_006713195;XP_006713196;XP_006713197;XP_006713198;XP_006713199 Hs.567295;Hs.715765 1299972;1336912;1338323;1341781;1666849;1697774;1701556;1716163;1763599;1770413;1770415;1776332;1779530;1784638;1854831;2111190;2113740;2117262;2150014;2173040 A001T36;D3S1304;D3S1560;D3S1750E;D3S3340;D3S3630;D8S1804;G19634;IB262;ITPR1;RH102411;RH104411;RH121104;RH68059;SHGC-112572;SHGC-147293;SHGC-153500;SHGC-50648;SHGC-59934;SHGC-76664 ACV;CLA4;DKFZp313E1334;DKFZp313N1434;INSP3R1;IP3R;IP3R 1;IP3R1;PPP1R94;SCA15;SCA16;SCA29 IP3 receptor;OTTHUMP00000207084;OTTHUMP00000207085;OTTHUMP00000209578;inositol 1,4,5-triphosphate receptor, type 1;inositol 1,4,5-trisphosphate receptor type 1;type 1 InsP3 receptor;type 1 inositol 1,4,5-trisphosphate receptor APPROVED protein-coding ENSG00000150995 HGNC:6180 00925 117360;147265;606658 REVIEWED 732422 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009] 3 3 3 p21.1 52807505 52821742 + 52828784 52843025 + 52794768 52809011 + 1580863;6480464;8554872 10037773;10100603;10567446;10893227;11716497;11807786;12477932;1385302;14702039;14718574;14744536;16335952;16344560;17211523;17898697;1898736;20515073;21926972;21926974;21988832;22610502;22614287;23453885;23974872;24373612;2446322;2465147;2476436;7522574;7681778;8125298;9359851;9756925 3699 E7ET33;Q06033 ABBA01024498;AC006254;AI683095;AK122858;AK222757;AK223483;AK298450;AMYH02006815;BC107604;BC107605;BC107814;BX448552;BX495022;CH471055;DA370870;NM_002217;X14690;X67055;X99854;XM_005265105;XM_006713129;XM_006713130 AAI07605;AAI07606;AAI07815;BAD96477;BAD97203;BAG60666;CAA32821;CAA47439;CAC79611;EAW65262;EAW65263;NP_002208;Q06033;XP_005265162;XP_006713192;XP_006713193 Hs.76716 1741443;2140723;2165355;5111963 G43522;GDB:181213;RH48935;WI-12128 H3P;ITI-HC3;SHAP ITI heavy chain H3;OTTHUMP00000213735;OTTHUMP00000213736;inter-alpha (globulin) inhibitor H3;inter-alpha (globulin) inhibitor, H3 polypeptide;inter-alpha-inhibitor heavy chain 3;inter-alpha-trypsin inhibitor heavy chain H3;pre-alpha (globulin) inhibitor, H3 polypeptide;pre-alpha-inhibitor, heavy chain 3;serum-derived hyaluronan-associated protein APPROVED protein-coding ENSG00000162267 HGNC:6168 00891 146650 VALIDATED 1344498 ITPRIP inositol 1,4,5-trisphosphate receptor interacting protein This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 10 10 10 q25.1 99812709 99834473 - 106069454 106098251 - 104309696 104338493 - 737633;6480464 12477932 10737800;11214970;12975309;14702039;16344560;16385451;16990268;17301879;17562024;19946888;20360068;20379614;21906983;21963094;21987572;22268729;22514627;24816145;8889549 85450 Q6Y2K9;Q8IWB1;X6RK76 AA085530;AB051541;ABBA01063087;AK055608;AK056526;AK094802;AL162742;AMYH02023735;AMYH02023736;AY189283;AY358776;BC040536;BC070108;BG007055;BQ014093;BX436559;CA446720;CH471066;DA416329;DA448042;DA832442;DB014126;DB114198;DB215055;DR763519;EL593529;HI574122;NM_001272012;NM_001272013;NM_033397;XM_005270257 AAH40536;AAH70108;AAO86727;AAQ89136;BAB21845;BAB71204;CBX47550;EAW49596;EAW49597;NP_001258941;NP_001258942;NP_203755;Q8IWB1;XP_005270314 Hs.523252;Hs.745171 1650494;1773751;2126387 RH47085;RH48888;STS-R64153 KIAA1754;RP11-127L20.4;bA127L20;bA127L20.2 DANGER;OTTHUMP00000020437;OTTHUMP00000020438;OTTHUMP00000020439;inositol 1,4,5-triphosphate receptor interacting protein;inositol 1,4,5-triphosphate receptor-interacting protein;inositol 1,4,5-trisphosphate receptor-interacting protein APPROVED protein-coding ENSG00000148841 HGNC:29370 13892 REVIEWED 1345915 ITPKB inositol-trisphosphate 3-kinase B The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 200010306 200117787 - 226819391 226927028 - 226631690 226739327 - 1580863;6480464;6907045 11104677;11846419;12477932;12747803;1330886;14702039;15489334;16189514;16354157;1654894;16710414;16740130;19322201;19913121;20379614;20628086;21148483;2176078;22446005;22589738;24401760;8889548;9374536 3707 B2R9J0;P27987 ABBA01009632;ABBA01009633;ABBA01009634;ABBA01009635;AJ242780;AK025304;AK095901;AK289700;AK313801;AL365444;AMYH02002818;AY513281;BC015009;BM972039;BQ434913;BQ434930;BX537724;CH471098;NM_002221;X57206;XM_005273120;Y18024 AAH15009;AAT08034;ADZ15355;BAF82389;BAG36537;CAA40491;CAB65055;CAC40650;EAW69793;NP_002212;P27987;XP_005273177 Hs.528087;Hs.659396 1660136;1739523;1762197;1762251;1851274;2114471;2127445;2131593;2132031;2151803;5037552;5099938 AU049926;D1S2232;D1S2415;D1S2498;D8S2279;RH18113;SHGC-146077;SHGC-146114;SHGC-30224;SHGC-56734;SHGC-76437;SHGC-76461 IP3-3KB;IP3K;IP3K B;IP3K-B;IP3KB;PIG37 IP3 3-kinase B;OTTHUMP00000035705;inositol 1,4,5-trisphosphate 3-kinase B;insP 3-kinase B;proliferation-inducing protein 37 APPROVED protein-coding ENSG00000143772 HGNC:6179 00942 147522 REVIEWED 1603562 ITPRIPL1 inositol 1,4,5-trisphosphate receptor interacting protein-like 1 FOUND IN membrane; INTERACTS WITH (-)-demecolcine; formaldehyde; quercetin 2 2 2 q11.2 91432249 91435278 + 96991062 96994091 + 96325324 96328353 + 6480464 12477932;15146197;16713569;19946888;21139048;21906983;22505724 150771 C9JNT4;H7C0T2;Q6GPH6 ABBA01036591;AC021188;AI286121;AMYH02004331;BC034503;BC073153;BI829328;CN263466;CN282838;NM_001008949;NM_001163523;NM_001163524;NM_178495;R37132;XM_006712316 AAH34503;AAH73153;NP_001008949;NP_001156995;NP_001156996;NP_848590;Q6GPH6;XP_006712379 Hs.65009 1689787;5021972;5113359 RH79594;RH98992;contig_572885 KIAA1754L KIAA1754-like;OTTHUMP00000207484;OTTHUMP00000207485;OTTHUMP00000207487;inositol 1,4,5-triphosphate receptor interacting protein-like 1;inositol 1,4,5-triphosphate receptor-interacting protein-like 1;inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 APPROVED protein-coding ENSG00000198885 HGNC:29371 13893 VALIDATED 1604732 ITPRIPL2 inositol 1,4,5-trisphosphate receptor interacting protein-like 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; ethyl methanesulfonate 16 16 16 p12.3 18273132 18280831 + 19125254 19132952 + 19113932 19121630 + 6480464;8554872 12477932;14702039;15146197 162073 H3BPC7;Q3MIP1 ABBA01028256;AC099518;AK026647;AK096327;AK097274;AMYH02031637;AMYH02031638;BC015343;BC101749;BC101751;BG116542;BX335323;BX338638;BX382445;CH471186;CN280807;NM_001034841;NR_028028 AAI01750;AAI01752;EAW50272;NP_001030013;Q3MIP1 Hs.530899 1676810;1684351;1698490;2178217;5022450;5022651;5109281 D10S275;D11S2921;D1S1425;RH102795;RH92544;RH98395;SHGC-52956 FLJ22994;MGC126798;MGC126800 inositol 1,4,5-triphosphate receptor interacting protein-like 2;inositol 1,4,5-triphosphate receptor-interacting protein-like 2;inositol 1,4,5-trisphosphate receptor-interacting protein-like 2 APPROVED protein-coding ENSG00000205730 HGNC:27257 18743 VALIDATED 6908152 ITPR1-AS1 ITPR1 antisense RNA 1 (head to head) 3 3 p26.1 4532553 4534824 - 4490317 4493163 - 100996539 ABBA01020470;AC024168;AL832729;AMYH02006182;BI523552;NR_108075 Hs.190365 ncrna HGNC:44470 VALIDATED 1352443 IV inversus situs, viscerum ASSOCIATED WITH HETEROTAXY, VISCERAL, 5, AUTOSOMAL (inferred) 7240710 8114 HGNC:6185 270100 735606 IVD isovaleryl-CoA dehydrogenase Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 15 15 15 q14-q15 17463670 17479493 + 40697686 40728146 + 40405485 40435947 + 1580863;1600039;1300048;6480464;6907045;7240710;8554872;8699517 2063866 10677295;10713113;11606439;12477932;12665801;1310317;14702039;15489334;16376132;17576084;19851296;20198315;20301313;20519759;20811636;20877624;21886157;21890473;22350545;22960500;23063737;2318964;23583980;24654937;24816145;25027693;3446585;6401713;7640268;8162068;8468053;8619474;9110174;9214289;9665741 3712 H0YKV0;H0YLC3;H0YN10;H0YNA4;H0YNT5;H7C4G6;P26440 ABBA01038452;AC013356;AF038317;AF038318;AF070531;AF191218;AI086669;AK022777;AK092168;AK122922;AK315296;AMYH02030238;AY826821;AY826822;AY826823;BC017202;BT007145;CH471125;KF459687;M34192;NG_011986;NM_001159508;NM_002225;XM_005254350;XM_005254356;XM_006720491;XM_006720492;XM_006720493;XM_006720494;XM_006720495;XR_243097;XR_243098;XR_429453 AAA52711;AAB92584;AAB92585;AAF20182;AAH17202;AAP35809;AAX18641;AAX18642;AAX18643;ABM83503;ABM86719;BAG37702;BAG53799;EAW92413;EAW92414;EAW92415;NP_001152980;NP_002216;P26440;XP_005254407;XP_005254413;XP_006720554;XP_006720555;XP_006720556;XP_006720557;XP_006720558 Hs.513646 1680910;1686034;1723283;2111266;2119299;2134849;2174720;2177962;5015861;5015961;5016478;5020274;5020635;5020948;5022322;5037552;7185938 A001Y08;D10S16;D11S2560;D15S1477;D15S507;D15S725E;D7S3207;D8S2279;G35510;GDB:434012;L18441;RH122331;RH25512;RH44543;RH94005;STS-M34192 ACAD2;FLJ12715;FLJ34849 OTTHUMP00000160445;OTTHUMP00000213748;isovaleryl CoA dehydrogenase;isovaleryl Coenzyme A dehydrogenase;isovaleryl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000128928 HGNC:6186 09516 243500;607036 REVIEWED 733997 ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010] 6 6 6 p21 35143559 35218741 + 33587951 33664351 + 33621379 33696574 + 1580863;6480464;6907045;7240710;7204693;8554872 19133301 10611319;10692497;10828023;10843712;10874040;10980191;11035010;11149946;11163362;11290752;11413485;11524429;12032348;12477932;12606721;14666665;14685260;14702039;14707143;15051494;15623527;1693919;16960798;17081983;17437169;17496801;18219441;18250332;18275062;18340361;18434505;18539593;18544901;18586264;18826956;19050248;19052258;19193873;19389623;19553259;19553469;19596686;19706527;19730683;19851445;19913121;19946888;20103623;20379614;20395455;20427533;20558539;20618519;20628086;20660057;20881960;21075448;21139048;21501587;21762810;21875593;21890473;21900946;21906983;21963094;22082873;22100703;22552281;22586326;22939629;23618877;23722424;23850713;23955339;23983250;23992640;24285081;24469450;7559486;8081734;8288584;8385102;8388391 3710 A6H8K3;Q14573;Q59ES2 AB209739;ABBA01038158;ABBA01038159;ABBA01038160;ABBA01038161;AK093524;AL139044;AL832807;AMYH02013496;AMYH02013497;AMYH02013498;BC146646;CA430212;CH471081;D26351;HI574292;NG_027729;NM_002224;U01062;XM_006715091;XM_006715092;XM_006715093 AAC50064;AAI46647;AAI72406;BAA05385;BAD92976;CBX47635;EAX03744;NP_002215;Q14573;XP_006715154;XP_006715155;XP_006715156 Hs.65758 1657720;1660023;1694550;1714151;1757313;1796140;2115794;2131179;2156826;2178654;5113282 D6S2048;G43195;ITPR3_1317;RH119684;RH36260;RH46603;RH46652;RH65340;RH93741;SHGC-144717;STS-U01062 FLJ36205;IP3R;IP3R 3;IP3R3;insP3R3 IP3 receptor;Inositol 1,4,5-trisphosphate receptor type 3 (Type 3 inositol 1,4,5-trisphosphate receptor) (Type 3 InsP3 receptor) (IP3 receptor isoform 3) (InsP3R3);OTTHUMP00000016213;inositol 1,4,5-triphosphate receptor, type 3;inositol 1,4,5-trisphosphate receptor type 3;type 3 InsP3 receptor;type 3 inositol 1,4,5-trisphosphate receptor APPROVED protein-coding ENSG00000096433 HGNC:6182 00926 147267;222100 REVIEWED 734228 ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 ENCODES a protein that exhibits calcium ion transmembrane transporter activity (inferred); inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (inferred); phosphatidylinositol binding (inferred); INVOLVED IN response to hypoxia; PARTICIPATES IN Alzheimer disease pathway; calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH Amyotrophic Lateral Sclerosis; Hypoxia, Brain (ortholog); FOUND IN membrane; plasma membrane; receptor complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 12 12 12 p11 31634797 32132275 - 26488285 26986131 - 26335352 26833198 - 1580863;6480464;6482794;6482791;6907045;7204693;8554872 17285299;17827064;19133301 10828023;10843712;10874040;10970773;11013462;11163362;11336651;11413485;11694504;11782428;14684825;15342556;16344560;1693919;17437169;18249094;18519826;18936250;19120137;19193627;19464757;19549843;19590686;19913121;19946888;20379614;20395455;20427533;20628086;20935629;21063100;21139048;21555518;21762810;21852551;21890473;21963094;22010048;23131553;23582047;23955339;23983250;24415751;8081734;9729462 3709 F5GYT5;H7C2X9;Q14571 AB012610;ABBA01068032;ABBA01068033;ABBA01068034;ABBA01068035;ABBA01068036;ABBA01068037;ABBA01068038;ABBA01068039;ABBA01068040;ABBA01068041;AC023051;AC023425;AC024093;AC024145;AC055720;AK307686;AK307712;AK310504;AL711179;AMYH02026232;AMYH02026233;AMYH02026234;AMYH02026235;AMYH02026236;AMYH02026237;AMYH02026238;AMYH02026239;AY429550;BP314401;BP364657;BU173910;BX495410;CH471094;D26350;DB144849;KF455620;NM_002223;XM_006719064 AAI72383;BAA05384;BAA33961;EAW96534;EAW96535;NP_002214;Q14571;XP_006719127 Hs.512235 1682816;1712118;1713349;1719881;1725891;1725915;1725925;1725945;1725947;1726095;1726113;1726129;1729682;1746201;1746491;1750893;1752713;1757513;1765087;1777737;1779766;1780136;1782722;1782726;1788654;1854296;2157538;2160544;2160797;2162802;2184733;2190675 A002T05;D12S1185E;D12S1316;D12S1411;D12S2033;D12S68;D8S12886;G54108;G62257;G62258;G62314;G62315;G62345;G62356;G62357;G62414;G64652;G64665;GDB:314063;RH119528;RH123633;RH18155;RH44959;RH75375;SHGC-104649;SHGC-106565;SHGC-144889;SHGC-148617;SHGC-153742;SHGC-154442;SHGC-155573;SHGC-155639 CFAP48;IP3R 2;IP3R2;insP3R2 IP3 receptor;OTTHUMP00000240322;cilia and flagella associated protein 48;inositol 1,4,5-triphosphate receptor, type 2;inositol 1,4,5-trisphosphate receptor type 2;type 2 InsP3 receptor;type 2 inositol 1,4,5-trisphosphate receptor APPROVED protein-coding ENSG00000123104 HGNC:6181 02536 600144 VALIDATED 1345868 IYD iodotyrosine deiodinase This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 6 6 6 q25.1 151424947 151460709 + 150689987 150725765 + 150368852 150404629 + 6480464;7240710;8554872;8699517 12477932;14574404;14671405;14702039;15289438;15489334;16316988;16910871;17207965;17322488;18434651;18765512;19043545;19436071;20298747;21870604;22535972;24489884 389434 C9JXJ9;F5H543;F6VN83;H7C0X6;Q6PHW0 ABBA01025662;AI823392;AK129950;AL031010;AMYH02014705;AY259176;AY259177;AY424901;AY424902;AY957659;AY957660;AY957661;AY957662;BC056253;CH471051;KF458321;NG_016007;NM_001164694;NM_001164695;NM_203395;XM_006715478;XM_006715479;XR_245516 AAH56253;AAP22072;AAP22073;AAR84259;AAR84260;AAY41465;AAY41466;AAY41467;AAY41468;ADQ32120;BAC85255;EAW47769;NP_001158166;NP_001158167;NP_981932;Q6PHW0;XP_006715541;XP_006715542 Hs.310225 1663173;1664875;1857895;5015861;5021872;5022651;5037552;5092668;7185938 A005O42;D10S16;D11S2921;D8S2279;G32253;RH36255;RH47932;sY3084 C6orf71;DEHAL1;IYD-1;TDH4;dJ422F24.1 OTTHUMP00000017973;OTTHUMP00000237263;OTTHUMP00000237264;OTTHUMP00000237265;OTTHUMP00000237266;OTTHUMP00000237267;chromosome 6 open reading frame 71;iodotyrosine dehalogenase 1 APPROVED protein-coding ENSG00000009765 HGNC:21071 16668 274800;612025 REVIEWED 1353883 ITSN2 intersectin 2 This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 24266029 24423608 - 24425733 24583647 - 24202866 24360528 - 1580863;6480464;8554872 10574462;10922467;11690630;11748279;12421765;12477932;12766152;14702039;15144186;15231747;15592455;15951569;16169070;16344560;16394100;16751776;17390067;17696407;18654987;19041431;19056867;19460752;19622753;19807924;19911011;20360068;20448150;20697350;20936779;21107309;21139048;21163940;21890473;21906983;21963094;22558309;22745667;23000965;23274495;23936226;24816145;25015289;8619474;9110174;9630982 50618 A6H8W8;E7EPJ2;F8W719;H7BZD4;H7C0L8;H7C3E2;Q9NZM3 AB033082;ABBA01045106;ABBA01045107;ABBA01045108;ABBA01045109;ABBA01045110;AC008073;AC009228;AF001630;AF038189;AF182198;AF182199;AF248540;AK000302;AK021545;AK025400;AK091859;AMYH02003410;AMYH02003411;AMYH02003412;BC020921;BC038963;BC146779;CH471053;DA382952;NG_029516;NM_006277;NM_019595;NM_147152;U61167 AAC50593;AAD00899;AAF59903;AAF59904;AAF63600;AAH20921;AAH38963;AAI46780;AAX93122;AAX93123;AAY14668;BAA86570;BAA91068;BAB13841;EAX00750;EAX00751;EAX00752;EAX00753;NP_006268;NP_062541;NP_671494;Q9NZM3 Hs.432562 1656739;1705620;1748543;1856074;2106529;2150660;2164213;2165476;5016711 A004Q30;ITSN2__6485;RH12863;RH46038;RH48788;SHGC-56423;SHGC-83312;STS-Z40060;WIAF-2115 KIAA1256;PRO2015;SH3D1B;SH3P18;SWA;SWAP OTTHUMP00000116038;OTTHUMP00000116039;OTTHUMP00000200718;SH3 domain protein 1B;SH3 domain-containing protein 1B;SH3P18-like WASP associated protein;SH3P18-like WASP-associated protein;intersectin-2 APPROVED protein-coding ENSG00000198399 HGNC:6184 09193 604464 REVIEWED 1314662 IVL involucrin Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. [provided by RefSeq, Jul 2008] 1 1 1 q21 125951304 125954567 + 152881039 152884362 + 152908563 152911886 + 1580863;6480464;8554872 10908733;11443109;11850802;12126624;12397374;12445200;12477932;12810719;15037572;15044435;15147942;15191537;15304097;15489334;15586248;15805105;1601889;16140218;16374477;16639001;16982614;17205062;17330131;17662274;17882273;17943181;17968567;18077140;18166499;18259765;18637039;19199708;19515043;19601998;19701759;20208004;21044950;21800051;22197495;22333115;22742591;23283814;23599428;24550385;2461365;2873896;2985954;42494;7759510;8276421;8380829;8550612;8554386;8999895;9115270;9159190;9512462;9651377;9804813 3713 P07476 ABBA01049427;AF085346;AK300492;AL162596;AMYH02001896;BC046391;BG679040;BM811601;JB025802;M13902;M13903;M17917;M17918;NG_033018;NM_005547;S52650;S80523;U23404;XM_006711300 AAA59186;AAH46391;BAG62206;CCV20019;NP_005538;P07476;XP_006711363 Hs.516439 1676424;1777734;2170886 RH18018;RH69071;RH80799 OTTHUMP00000014402 APPROVED protein-coding ENSG00000163207 HGNC:6187 00931 147360 REVIEWED 1314824 IVNS1ABP influenza virus NS1A binding protein INVOLVED IN negative regulation of intrinsic apoptotic signaling pathway (inferred); response to virus (inferred); RNA splicing (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 1 1 1 q25.1-q31.1 158376215 158397156 - 185265520 185286461 - 185296388 185317339 - 6480464;8554872 10048485;11042152;12477932;14702039;16169070;16582008;17996313;19615732;20379614;20532202;21139048;21890473;21942715;21988832;22190034;22268729;22863883;23184937;23398456;23825951;24210102;9696811;9847309 10625 H0Y5Y2;Q9Y6Y0;X6R674 AB020657;ABBA01027719;ABBA01027720;AF161553;AF205218;AJ012449;AK000931;AK001273;AK001625;AK001824;AK023020;AK023123;AK092912;AK093912;AK292431;AL078644;AL137640;AL356273;AMYH02002308;BC067739;BX648273;BX649183;CH471067;DQ443528;DQ443529;NM_006469;XM_005244843 AAF29040;AAG43485;AAH67739;ABE03889;ABE03890;BAA74873;BAF85120;BAG50883;BAG51150;BAG52783;CAA10029;CAE46201;EAW91193;EAW91194;NP_006460;Q9Y6Y0;XP_005244900 Hs.497183 1653162;1662954;1700290;2137032;2142580;2162108;2167192;5017570 D1S1822E;D1S2378;IVNS1ABP;RH103763;SHGC-37348;SHGC-76027;SHGC-76046;SHGC-76054 DKFZp686K06216;FLARA3;FLJ10069;FLJ10411;FLJ10962;FLJ35593;FLJ36593;HSPC068;KIAA0850;KLHL39;ND1;NS-1;NS1-BP;NS1BP NCX downstream gene 1;NS1-binding protein;OTTHUMP00000033394;aryl hydrocarbon receptor-associated 3;aryl hydrocarbon receptor-associated protein 3;influenza virus NS1A-binding protein;kelch-like family member 39 protein-coding ENSG00000116679 HGNC:16951 10004 609209 VALIDATED 1351856 IZUMO3 IZUMO family member 3 ENCODES a protein that exhibits protein homodimerization activity (ortholog); FOUND IN integral component of membrane (inferred); plasma membrane (inferred) 9 9 9 p21.3 24465817 24468595 - 24543193 24545889 - 24543195 24545891 - 15164053;19658160;22957301 100129669 H7BZS5;Q5VZ72;S4R3E6 ABBA01065151;AL162232;AMYH02019311;AMYH02019312;HY054657;HY236269;NM_001271706;XM_005251332;XM_005251333;XM_006716714 NP_001258635;Q5VZ72;XP_005251389;XP_005251390;XP_006716777 Hs.573530 C9orf134;bA20A20.1 chromosome 9 open reading frame 134;izumo sperm-egg fusion protein 3 APPROVED protein-coding ENSG00000205442 HGNC:31421 VALIDATED 1604340 IWS1 IWS1 homolog (S. cerevisiae) ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of histone H3-K36 trimethylation; regulation of histone H4 acetylation; regulation of mRNA export from nucleus; FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; benzo[a]pyrene diol epoxide I 2 2 2 q14.3 121549354 121595041 - 128238383 128284462 - 127480807 127526886 - 6480464 12477932;14702039;15302935;15489334;16344560;16565220;16648364;16964243;17081983;17184735;17234882;19141475;19471022;19615732;21693764;21890473;21988832;22113938;22863883;22939629;24250222;24462114;24816145 55677 B4DJ84;B8ZZB6;H7C0U1;Q96ST2 ABBA01040203;ABBA01040204;AC010976;AI638093;AK000868;AK001717;AK027561;AK056881;AK294669;AK295970;AK296848;AK309006;AL834178;AMYH02004732;AMYH02004733;AMYH02004734;BC017012;BC065279;BC110536;BC110537;CH471103;DA268882;NM_017969;XM_005263707;XM_006712626;XR_427099 AAH17012;AAH65279;AAI10537;AAI10538;BAA91402;BAA91858;BAB55198;BAB71301;BAG57836;BAG58746;BAG59414;CAD38875;EAW95321;NP_060439;Q96ST2;XP_005263764;XP_006712689 Hs.469879 1341580;1661391;1734890;1784042;2121333;2137492;2147209;2147211;2164957;2180878;2186967;5491573 A003B14;A004R45;A006H45;D2S1606E;D2S1660E;D2S95;G20826;MARC_21654-21655:1033408890:1;RH11529;RH66040;SHGC-144892;SHGC-32141 DKFZp761G0123;FLJ10006;FLJ14655;FLJ32319;MGC126375;MGC126376 IWS1-like protein;OTTHUMP00000162262;interacts with Spt6;protein IWS1 homolog protein-coding ENSG00000163166 HGNC:25467 07639 VALIDATED 1606978 IZUMO2 IZUMO family member 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH potassium dichromate (ortholog) 19 19 19 q13.33 47705980 47716710 - 50655805 50666538 - 50152548 50163281 - 6480464 12477932;12975309;19658160;22957301 126123 M0QXA9;M0QZG1;M0R2L8;Q6UXV1 ABBA01068344;AC020906;AF479645;AK131024;AK307321;AMYH02036340;AY358196;BC029535;CH471135;HC006820;HC044823;NM_152358;XM_006723007;XM_006723008 AAH29535;AAQ05826;AAQ05827;AAQ88563;ABM81893;ABM85066;BAC85478;CBH19216;CBH30741;EAW71837;NP_689571;Q6UXV1;XP_006723070;XP_006723071 Hs.414175 5015619;5020274;5022588 D11S3114;D5S1597E;L18441 C19orf41;MGC33947;PLAL6978;PRO21961;SCRL OTTHUMP00000082695;hypothetical protein LOC126123;izumo sperm-egg fusion protein 2 APPROVED protein-coding ENSG00000161652 HGNC:28518 14578 VALIDATED 1344107 JADE3 jade family PHD finger 3 This gene encodes a member of a family of large proteins containing PHD (plant homeo domain)-type zinc fingers. The encoded protein may be associated in a nuclear complex that functions in histone H4 acetylation. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013] X X X p11.23 50964282 51112586 + 46771736 46920641 + 46912276 47061242 + 1304513;1580863;6480464;8554872 11944989 10775800;12477932;14612400;15302935;15489334;15772651;16344560;16387653;17081983;18029348;19322201;23205112;23281010;24816145;9039502 9767 F2Z2B6;F2Z3N8;Q92613 ABBA01052277;ABBA01052278;ABBA01052279;ABBA01052280;ABBA01052281;ABBA01052282;ABBA01052283;ABBA01052284;ABBA01052285;ABBA01052286;ABBA01052287;ABBA01052288;ABBA01052289;ABBA01052290;AF127774;AK291220;AL627143;AL704455;AMYH02039264;AMYH02039265;AMYH02039266;AMYH02039267;AW071647;BC113880;BC114487;BN000289;CH471164;D86969;DB063092;KF459101;KF459103;NG_013324;NM_001077445;NM_014735;Z83822 AAD51905;AAI13881;AAI14488;BAA13205;BAF83909;CAE30502;EAW59277;EAW59278;NP_001070913;NP_055550;Q92613 Hs.371977 1678887;1691592;1702074;1776556;2157721;2163673;2168643;2168645;2219500 AL023934;AL032568;DXS1266;DXS7880;PHF16__5681;RH35955;RH92012;SHGC-33343;WI-14908 JADE-3;KIAA0215;MGC138748;MGC138749;PHF16 OTTHUMP00000023190;PHD finger protein 16;jade family PHD finger protein 3 APPROVED protein-coding ENSG00000102221 HGNC:22982 06675 300618 REVIEWED 1349340 IZUMO4 IZUMO family member 4 FOUND IN nucleus; INTERACTS WITH methyl methanesulfonate; clofibrate (ortholog); pirinixic acid (ortholog) 19 19 19 p13.3 2031621 2034336 + 2096422 2099586 + 2096423 2099587 + 737633;6480464 12477932 12975309;15489334;17207965;19658160;22957301;24250222 113177 Q1ZYL8 ABBA01002710;AC005328;AC005545;AK294083;AK301957;AMYH02035184;AW182303;AY358444;AY753639;BC010443;BC014609;BC040964;BI827974;BX378854;CH471139;DQ196309;DQ196310;DQ424900;NM_001031735;NM_001039846;XM_005259480 AAC27671;AAC34213;AAH10443;AAH14609;AAQ88809;AAX09280;ABA28617;ABA28618;ABD83665;ADQ31651;BAG57424;BAG63371;EAW69419;EAW69420;EAW69421;NP_001026905;NP_001034935;Q1ZYL8;XP_005259537 Hs.424049 C19orf36;IMAGE:4215339 OTTHUMP00000180601;OTTHUMP00000180602;hypothetical protein LOC113177;izumo sperm-egg fusion protein 4;putative SAMP14 binding protein variant 1;putative SAMP14 binding protein variant 2;sperm 22 kDa protein c113 APPROVED protein-coding ENSG00000099840 HGNC:26950 12708 VALIDATED 1315809 JADE1 jade family PHD finger 1 ENCODES a protein that exhibits RNA polymerase II transcription coactivator activity; INVOLVED IN histone H3 acetylation; histone H4-K12 acetylation; histone H4-K5 acetylation; FOUND IN cytoplasm; histone acetyltransferase complex; intercellular bridge; INTERACTS WITH 2-methylcholine; aflatoxin B1; all-trans-retinoic acid 4 4 4 q26-q27 127112780 127178419 + 129730779 129796379 + 128809623 128875224 + 6480464 11347906;12169691;12477932;14612400;14702039;14973063;15489334;15502158;15815621;16046545;16344560;16387653;16713569;17081983;18029348;18684714;18806787;19187766;21890473;21900206;22144582;22516360;22654112;23001567;23400010;23824745;24097061;24722188 79960 B4E2E2;D6RAS5;D6RBB3;D6RC05;D6RCS1;D6RE74;D6RFK0;D6RGE7;Q6IE81 AB058710;ABBA01044828;ABBA01044829;AC093783;AC108024;AF520952;AK026132;AK027620;AK074986;AK127326;AK304235;AK304815;AMYH02010094;BC032376;BI463062;BN000287;BX107708;CH471056;DA478923;DA714593;DB085413;DB293142;DB451567;DC308420;DC308588;NM_001287437;NM_001287439;NM_001287440;NM_001287441;NM_001287442;NM_001287443;NM_024900;NM_199320;XM_005263229;XM_005263232;XM_006714310 AAH32376;AAM95612;AAY40997;ABM82498;ABM85692;BAB15371;BAB47436;BAB55239;BAC11335;BAC86931;BAG65104;BAG65565;CAE30500;EAX05170;EAX05171;EAX05172;EAX05173;EAX05174;EAX05175;EAX05176;NP_001274366;NP_001274368;NP_001274369;NP_001274370;NP_001274371;NP_001274372;NP_079176;NP_955352;Q6IE81;XP_005263286;XP_005263289;XP_006714373 Hs.12420 1672985;1675654;1851036;2148001;2169463 D4S871;G34049;RH93632;SHGC-24754;SHGC-67603 FLJ22479;KIAA1807;PHF17 OTTHUMP00000219842;OTTHUMP00000219934;OTTHUMP00000219935;OTTHUMP00000219936;PHD finger protein 17;PHD protein Jade-1;gene for apoptosis and differentiation in epithelia;jade family PHD finger protein 1;protein Jade-1 APPROVED protein-coding ENSG00000077684 HGNC:30027 10151 610514 VALIDATED 1319333 JADE2 jade family PHD finger 2 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN histone H3 acetylation; histone H4-K12 acetylation; histone H4-K5 acetylation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; histone acetyltransferase complex; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; melphalan 5 5 5 q31.1 129987691 130044831 + 133860003 133918918 + 134524312 134583228 + 1580863;6480464;8554872 12477932;12693554;14612400;14702039;15489334;16387653;16916647;19056867;20211142;20936779;21102462;23281010;9039502 23338 B3KPL2;B5MBX1;C9J929;D6R9B8;G3XAA4;H7C0P2;Q9NQC1 AA781608;ABBA01068756;ABBA01068757;AC005355;AC106763;AJ251833;AK025001;AK056471;AK074123;AK290471;AK292635;AK294327;AMYH02012245;AMYH02012246;AMYH02012247;BC004292;BC009307;BC021169;BC021962;BN000288;CH471062;D87076;DB451538;KF510885;NM_001289984;NM_001289985;NM_015288;XM_005271942;XM_005271943;XM_005271944;XM_005271945;XM_005271946;XM_005271947;XM_005271948;XM_005271949;XM_005271950;XM_005271951 AAH04292;AAH09307;AAH21962;ABZ92311;BAA13245;BAB84949;BAF83160;BAF85324;BAG51724;BAG57599;CAB94935;CAE30501;EAW62252;EAW62253;EAW62254;EAW62255;EAW62256;NP_001276913;NP_001276914;NP_056103;Q9NQC1;XP_005271999;XP_005272000;XP_005272001;XP_005272002;XP_005272003;XP_005272004;XP_005272005;XP_005272006;XP_005272007;XP_005272008 Hs.732155 1682603;1740427;1848722;2122134;2219498 D11S4698;D5S2238E;PHF15__5680;RH27043;RH71447 JADE-2;KIAA0239;PHF15 OTTHUMP00000159385;OTTHUMP00000159386;OTTHUMP00000159387;OTTHUMP00000197617;PHD finger protein 15;jade family PHD finger protein 2 APPROVED protein-coding ENSG00000043143 HGNC:22984 15124 610515 VALIDATED 7245306 JADRR JADE1 adjacent regulatory RNA q28.2 24097061 101669763 KC469579 LINC00915;lncRNA-JADE APPROVED ncrna HGNC:48601 1604485 IZUMO1 izumo sperm-egg fusion 1 The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008] 19 19 19 q13.33 46110237 46116258 - 49244073 49250831 - 48740875 48747574 - 6480464;8554872 12477932;15489334;15759005;17047026;18082733;18952059;19658160;21060863;21926972;22957301;23128233;23279005;23372041;23636237 284359 M0R0B8;Q8IYV9 AB195682;ABBA01032968;AC009002;AK301750;AMYH02036310;AY552609;AY552610;BC034769;BC050460;CH471177;NM_182575;XM_005258791;XM_005258792;XM_005258793;XM_005258795;XM_005258797;XM_005258798;XM_006723161;XR_243923;XR_430196 AAH34769;AAS59145;AAS59146;ABM84288;ABM85461;ABM87766;ABW03608;BAD91012;BAG63212;EAW52395;EAW52396;EAW52397;EAW52398;NP_872381;Q8IYV9;XP_005258848;XP_005258849;XP_005258850;XP_005258852;XP_005258854;XP_005258855;XP_006723224 Hs.400688 1795870;2177866;5037552;5127927;7186908 D19S596;D8S2279;FUT1_318;RH78937;SHGC-152310 FLJ61440;MGC34799;OBF IZUMO;izumo sperm-egg fusion protein 1;oocyte binding/fusion factor;sperm-specific protein Izumo APPROVED protein-coding ENSG00000182264 HGNC:28539 14589 609278 VALIDATED 733495 JAG2 jagged 2 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q32 85661503 85688392 - 105607318 105635161 - 105140981 105168824 - 1580863;69864;1304492;2302204;6480464;6484113;6907045 10079256;17761886;8948600 10080181;10383933;10524757;10662552;10910909;10958687;11006133;11056013;11549580;11700865;12477932;12551931;15292061;15920166;16327884;16713569;16899352;18439488;19049519;19054571;19417136;20040020;20133585;20237496;20572854;20634891;20672350;20819128;21048031;21078624;21372153;21402725;21499308;21602525;21892607;22030773;22341562;23074278;24228105;24351288;24605944;24670287;24710391;25060200;9315665;9486542 3714 Q59FT9;Q9Y219 AA775404;AB209370;ABBA01008859;ABBA01008860;AF003521;AF020201;AF029778;AF029779;AF111170;AI276672;AJ712299;AL512356;AMYH02029960;AMYH02029961;AMYH02029962;AMYH02029963;BC032053;BX105691;CH471061;NM_002226;NM_145159;U69180;Y14330 AAB61285;AAB71189;AAB84215;AAB84216;AAD15562;BAD92607;CAA74706;EAW81899;EAW81900;EAW81901;NP_002217;NP_660142;Q9Y219 Hs.433445 HJ2;SER2 OTTHUMP00000178737;OTTHUMP00000178738;protein jagged-2 APPROVED protein-coding ENSG00000184916 HGNC:6189 03981 602570 REVIEWED 1353888 JAG1 jagged 1 The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008] 20 20 20 p12.1-p11.23 10688304 10724650 - 10618332 10654694 - 10637684 10674046 - 69863;1580651;1582344;1582342;1580863;1334443;2302204;2299152;6480464;6482240;6482232;6482233;6482239;6482234;6482236;6482237;6482238;6482230;6482235;6484113;6907045;7240710;8554872;8699517 11152664;11745040;12022040;15057910;16875832;16934875;17114010;17761886;17947672;18354251;18691378;19265135;20805994;21220737;21330605;21714972;7697721 10079256;10220506;10329626;10533065;10551863;10679295;10958687;11006133;11058898;11067884;11139247;11157803;11180599;11346656;11427524;11549580;11780052;11964309;11999354;12036964;12107827;12297837;12357247;12370358;12427653;12442286;12477932;12482954;12496248;12497640;12649809;12684674;12826675;12842995;14714274;14726396;14769803;15254769;15258909;15280477;15358557;15466172;15489334;15712272;15781650;15905075;15919944;16013021;16023595;16307184;16403414;16575836;16791277;16823852;17301032;17359939;17368936;17507991;17661408;17720887;17822320;17984306;17990101;18060036;18077452;18079963;18192230;18266235;18563556;18593716;18632624;18784255;19150223;19150886;19181211;19204726;19393188;19398721;19430482;19453261;19460752;19542446;19586525;19603167;19682396;19728763;19780835;19816565;19913121;19915977;19935714;19948535;20038814;20040020;20052673;20096396;20237496;20301450;20331378;20437614;20517681;20554499;20580881;20586101;20628086;20634891;20683201;20720151;20800871;20812035;20819075;20819128;20829885;20833210;20870935;20953350;21062756;21103979;21145176;21199807;21266409;21348951;21602525;21637926;21639801;21685392;21752016;21753153;21757656;21810559;21820430;21866461;21890473;21893051;21906983;21909110;21909115;21911304;22020917;22040217;22080880;22174012;22204979;22296176;22348356;22357466;22405927;22465068;22487239;22504420;22526456;22618231;22847978;22871495;23086448;23157415;23300864;23339193;23375636;23379739;23416080;23752887;23758219;23934482;23956173;24239355;24573085;8923452;8955070;9207787;9207788;9268641;9462510;9585603;9707552 182 P78504;Q99740 ABBA01053936;AF003837;AF028593;AI268246;AK302554;AK312722;AL035456;AMYH02036699;AMYH02036700;BC028007;BC098393;BC126205;BC126207;BF056748;CH471133;NG_007496;NM_000214;U61276;U73936;U77720;U77914 AAB39007;AAB84053;AAC50909;AAC51323;AAC51731;AAC52020;AAH98393;AAI26206;AAI26208;ADR83289;BAG35596;BAG63823;EAX10341;NP_000205;P78504 Hs.224012;Hs.626544 1718807;1775205;1791498;1796142;2111762;2126579;2129007;2133250;2143967;2146999;2176778 D20S1091;JAG1_1238;PMC111189P2;RH123107;SHGC-33818;STS-T96855;WI-12707;WI-17032;WI-8071;Z94359;Z94625 AGS;AHD;AWS;CD339;HJ1;JAGL1;MGC104644 Alagille syndrome;OTTHUMP00000030278;jagged 1 (Alagille syndrome);jagged1;protein jagged-1 APPROVED protein-coding ENSG00000101384 HGNC:6188 03562 118450;187500;601920 REVIEWED 1605275 JAKMIP1 janus kinase and microtubule interacting protein 1 ENCODES a protein that exhibits GABA receptor binding; RNA binding; INVOLVED IN cognition; ASSOCIATED WITH Melanoma (inferred); FOUND IN extrinsic component of membrane; ribonucleoprotein complex; INTERACTS WITH copper atom; copper(0); fonofos 4 4 4 p16.1 5926442 6102430 - 6026661 6202318 - 6026199 6200591 - 6480464;8554872 12477932;14702039;14718537;15277531;15324660;16344560;17500595;17519220;17572408;17761393;17804789;18941173;20379614;22566498;23382691;23481296 152789 F2Z2K5;Q96N16 ABBA01008271;ABBA01008272;ABBA01012716;AC092442;AC113615;AK056126;AK098536;AK124718;AK294356;AK295339;AK307983;AM412307;AM412308;AM412309;AM412310;AMYH02008661;AMYH02008662;AMYH02008663;AW157571;AY382340;BC026343;BC047075;CH471131;DA155551;NM_001099433;NM_144720 AAH47075;AAR26235;ADZ15555;BAB71098;BAC05325;BAG54078;BAG57621;BAG58310;CAL80778;CAL80779;CAL80780;CAL80781;EAW82401;EAW82402;NP_001092903;NP_653321;Q96N16 Hs.479066 1657033;1657758;1765935;1788986;1853997;2116763;2119072;2119380;2140671;2140673 D4S1059;D4S1127;D4S827;D4S912;G33502;G65572;SHGC-149339;SHGC-25149;SHGC-51705;SHGC-67226 FLJ31564;JAMIP1;MARLIN1 GABA-B receptor-binding protein;Gababrbp;Jak and microtubule interacting protein 1;OTTHUMP00000155144;OTTHUMP00000203209;OTTHUMP00000203210;OTTHUMP00000203212;OTTHUMP00000217225;OTTHUMP00000217781;janus kinase and microtubule-interacting protein 1;marlin-1;multiple alpha-helices and RNA-linker protein 1;multiple coiled-coil GABABR1-binding protein APPROVED protein-coding ENSG00000152969 HGNC:26460 11292 611195 VALIDATED 6767055 JAKMIP2-AS1 JAKMIP2 antisense RNA 1 INTERACTS WITH valproic acid 5 5 5 q32 143021577 143123464 + 146939557 147041572 + 147559994 147662009 + 6480464 14702039 153469 ABBA01026323;AC011370;AC126775;AK027578;AMYH02012427;KF458031;NR_038902 Hs.184323 1338306;1666119;1679714;1697964;1735538;1757319;1856720;2145432;2157346 D5S1387;D5S1668E;D5S1764;D5S2490;D5S2847;RH102511;RH80687;SHGC-144720;WI-20658 APPROVED ncrna HGNC:27203 VALIDATED 1342770 JAGN1 jagunal homolog 1 (Drosophila) INVOLVED IN granulocyte colony-stimulating factor signaling pathway; neutrophil differentiation; vesicle-mediated transport; ASSOCIATED WITH Failure to thrive (inferred); Neutropenia (inferred); Recurrent bacterial infections (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH atrazine; copper(2+) sulfate; (S)-nicotine (ortholog) 3 3 3 p25.2 9867730 9871500 + 9932271 9936033 + 9890587 9894349 + 737633;6480464;8699517 12477932 14702039;15342556;16303743;21103663;21139048;21832049;8125298 84522 Q8N5M9 ABBA01020397;AC018809;AF212230;AK027508;AK074760;AK225756;AMYH02006239;BC008507;BC032101;BP262753;CH471055;CQ782694;NM_032492 AAH32101;AAK14916;ABM83207;ABM86407;BAB55163;BAC11188;CAF85930;EAW64015;NP_115881;Q8N5M9 Hs.24054 2128653 A004P23 FLJ14602;GL009;SCN6 OTTHUMP00000158646;protein jagunal homolog 1 protein-coding ENSG00000171135 HGNC:26926 13749 616012;616022 VALIDATED 1605109 JAKMIP2 janus kinase and microtubule interacting protein 2 The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 5 5 5 q32 143052668 143244124 - 146965002 147162411 - 147585439 147782848 - 6480464 12477932;12892780;14718537;14996095;15489334;16189514;16344560;17471488;17551518;17572408;17971050;19845895;20379614;20890944;22250954;9628581 9832 Q96AA8 AB011127;ABBA01026323;AC011370;AC011415;AC126775;AF273057;AK291280;AK299724;AMYH02012427;AMYH02012428;BC003189;BC017354;CH471062;DB072234;EF512550;NM_001270934;NM_001270941;NM_001282282;NM_014790 AAH03189;AAH17354;AAM44460;ABP62932;BAA25481;BAF83969;BAG61622;EAW61820;EAW61821;EAW61822;EAW61823;NP_001257863;NP_001257870;NP_001269211;NP_055605;Q96AA8 Hs.740461;Hs.744926 1338306;1341507;1666119;1679714;1695160;1697964;1735538;1856720;2113806;2145432;2157346;2174552 2B1;D5S1387;D5S1668E;D5S1764;D5S2446;D5S2490;D5S2847;D5S463;G48220;RH102511;RH80687;WI-20658 JAMIP2;KIAA0555;NECC1 CTCL tumor antigen HD-CL-04;Jak and microtubule interacting protein 2;OTTHUMP00000160146;OTTHUMP00000160147;OTTHUMP00000223882;janus kinase and microtubule-interacting protein 2;neuroendocrine long coiled-coil 1;neuroendocrine long coiled-coil protein 1 APPROVED protein-coding ENSG00000176049 HGNC:29067 11090 611197 REVIEWED 737593 JAK3 Janus kinase 3 The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008] 19 19 19 p13.1 17837310 17860555 - 17935591 17958880 - 17824782 17848071 - 1600254;1625126;1580863;1357939;1357935;6480464;6484113;6907045;7240710;8554872;8699517 12032773;12039028;17312100;7659163 10037026;10373548;10395671;10506573;10531356;10733938;10825200;10872802;10875931;10899310;10982185;11133764;11160325;11278738;11349123;11485409;11557047;11585385;11668610;11668621;11850821;11909529;11994288;12145687;12200137;12207328;12351625;12477932;12559972;12605694;12613524;12777975;12794134;14593182;14615376;14726805;14968112;15057824;15067075;15121872;15385932;15584866;15588985;15592455;15611059;15831699;15996891;16153455;16192633;16273093;16308103;16344560;16515549;16763206;16790275;16825495;16843266;16932349;17081797;17252020;17456055;17537734;17554063;17938255;18250158;18297515;18397343;18559588;18633131;18676680;18755984;19012493;19017763;19139084;19141860;19170196;19248116;19282076;19290934;19385051;19423540;19464057;19470474;19531027;19573080;19608866;19625176;19692168;19734221;19773279;19859091;19889552;19913121;19923221;20040389;20098747;20138049;20190194;20237298;20339477;20372811;20406964;20438785;20478313;20568250;20568388;20628086;20697856;20800603;20959405;21048031;21095188;21345943;21346774;21414324;21537335;21599579;21691072;21821710;21868263;21906983;21952639;21969365;21971513;21988832;22039266;22130498;22221142;22368272;22425895;22505724;22705984;23012362;23238254;23341462;23384681;23404507;23832011;23898208;23934551;23990909;24045942;24048415;24446122;24548303;24795043;24843152;7481768;7481769;7499365;7535338;7538655;7559633;7594533;7662955;7973658;7973659;8022485;8022486;8022790;8493579;8662778;8921370;9045636;9047382;9133417;9133424;9168059;9182906;9226382;9354668;9391116;9512511;9520455;9553136;9637477;9753072;9822709;9973401 3718 P52333 ABBA01051233;AC007201;AF513860;AK296383;AK304392;AMYH02035714;BC028068;BF512748;BM561964;CH471106;DA405504;NG_007273;NM_000215;U08340;U09607;U31317;U31601;U57096;U70065;XM_005259896;XM_006722745;XR_430137 AAA17743;AAA19626;AAC50225;AAC50226;AAC50542;AAC50950;AAD22741;AAH28068;AAM44860;BAG59055;BAG65227;EAW84637;EAW84638;EAW84639;EAW84640;NP_000206;P52333;XP_005259953;XP_006722808 Hs.515247 1796146;2146975;2156587;2158454;5014063;5015619;5037552;5095010 D11S3114;D15S1390;D8S2279;JAK3;JAK3_768;RH70552;SHGC-35252;SHGC-58024 JAK-3;JAK3_HUMAN;JAKL;L-JAK;LJAK Janus kinase 3 (a protein tyrosine kinase, leukocyte);OTTHUMP00000230594;OTTHUMP00000230595;leukocyte Janus kinase;tyrosine-protein kinase JAK3 APPROVED protein-coding ENSG00000105639 HGNC:6193 02547 600173;600802 REVIEWED 1316212 JAKMIP3 Janus kinase and microtubule interacting protein 3 ENCODES a protein that exhibits kinase binding (inferred); microtubule binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); INTERACTS WITH aflatoxin B1; amiodarone; benzene 10 10 10 q26.3 127562508 127643434 + 133879367 133998482 + 132065864 132184978 + 6480464;8554872 12477932;14702039;15164054;15277531;16385451;17572408;23144326 282973 Q5VZ66 ABBA01006174;ABBA01006175;ABBA01006176;ABBA01006177;AK095176;AK097818;AK123426;AK126964;AL137551;AL162274;AL512622;AL832756;AMYH02024061;AMYH02024062;AMYH02024063;AMYH02024064;AMYH02024065;AMYH02024066;BC045170;CH471066;NM_001105521;XM_005252672;XM_005252673;XM_005252674;XM_005252675;XM_005252676;XM_005252677;XM_006717780 BAC86766;CAH10388;EAW49141;NP_001098991;Q5VZ66;XP_005252729;XP_005252730;XP_005252731;XP_005252732;XP_005252733;XP_005252734;XP_006717843 Hs.106254 1670567;1720713;1763029;1778093;2173660;5093098 A009F48;G32518;G59328;RH11288;SHGC-146776;WI-21586 C10orf14;C10orf39;FLJ37857;FLJ41432;Jamip3;NECC2;bA140A10.5 OTTHUMP00000210418;janus kinase and microtubule-interacting protein 3;neuroendocrine long coiled-coil 2;neuroendocrine long coiled-coil protein 2 protein-coding ENSG00000188385 HGNC:23523 12574 611198 PROVISIONAL 69102 JAK1 Janus kinase 1 Janus kinase 1 (JAK1), is a member of a new class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The second phosphotransferase domain bears all the hallmarks of a protein kinase, although its structure differs significantly from that of the PTK and threonine/serine kinase family members. JAK1 is a large, widely expressed membrane-associated phosphoprotein. JAK1 is involved in the interferon-alpha/beta and -gamma signal transduction pathways. The reciprocal interdependence between JAK1 and TYK2 activities in the interferon-alpha pathway, and between JAK1 and JAK2 in the interferon-gamma pathway, may reflect a requirement for these kinases in the correct assembly of interferon receptor complexes. These kinases couple cytokine ligand binding to tyrosine phosphorylation of various known signaling proteins and of a unique family of transcription factors termed the signal transducers and activators of transcription, or STATs. [provided by RefSeq, Jul 2008] 1 1 1 p32.3-p31.3 63589792 63723086 - 65298906 65432593 - 64833223 64966910 - 1625126;1580863;1357942;1357935;5686839;6480464;5688379;6484113;6907045 12039028;12884916;17312100;21115385;21881215 10037796;10373548;10433356;10502458;10531356;10586060;10702271;10707961;10777583;10809230;10825200;10856136;10875931;10899310;10918587;10954736;10982844;10993906;11016959;11036942;11133764;11160325;11162588;11163768;11201744;11294897;11350938;11418623;11468294;11527382;11557047;11694501;11722592;11742534;11751854;11751884;11786531;11801527;11839738;11909529;11940572;12089333;12130510;1213395;12133952;12163560;12200137;12207328;12223098;12242343;12244095;12374810;12403768;12447867;12456798;12477932;12549820;12551917;12559972;12576423;12620806;12626508;12637327;12734330;12738762;12775419;12777975;12817007;12960323;1373877;14551213;14674010;14978237;15063116;15194700;15277531;15284024;15322115;15526032;15588985;1581631;15883164;15894543;15923602;15988755;15996891;16102578;16239216;16273093;16280321;16474838;16710296;16767694;17158029;17290288;17353931;17433443;17560945;17641294;17686504;17703412;17951261;17982039;18160671;18178840;18187620;18266209;18270328;18271526;18320073;18362173;18390202;18413761;18430728;1848670;18559588;18566411;18787400;18787531;18789440;18948751;18976975;19017763;19139102;19167051;19176360;19180571;19239328;19255588;19258923;19434718;19457567;19464057;19470474;19559055;19604093;19730683;19764985;19802007;19887489;19900094;19913121;20052595;20065083;20072651;20103601;20128689;20139093;20167706;20237496;20368117;20379614;20409569;20467438;20503287;20588308;20628086;20697856;20868368;20974963;20980339;21048031;21051030;21139048;21151131;21160051;21216930;21220115;21277633;21325207;21420464;21439476;21537335;21551237;21679692;21689637;21827323;21840487;21861134;21880637;21880948;21890473;21903422;21906983;21949722;21963094;21965659;21987572;22084247;22226123;22301404;22368272;22406175;22427350;22505724;22542455;22558273;22661199;22684105;22748021;22798525;22844427;22859983;22901011;22939624;23000965;23084401;23184937;23185365;23246001;23402259;23406773;23611997;23674219;23703473;23762317;23768868;23818941;23860541;23920124;23941832;23990909;24048415;24073214;24154688;24158701;24413661;24816145;24843152;24882218;24886089;7499365;7510216;7512720;7543024;7589562;7629131;7657660;7690989;7698020;7759950;7973658;7973659;8041779;8232552;8247543;8272872;8493579;8536716;8609418;8612580;8626374;8647212;8657151;8700888;8702790;8756628;8995399;9020188;9047382;9133424;9178903;9388212;9417082;9446616;9452495;9484840;9492017;9510175;9516124;9520455;9553136;9566874;9597132;9651359;9774657;9774693 3716 P23458;Q8IV82 AB209057;AB219242;ABBA01074552;ABBA01074553;ABBA01074554;AC093427;AK128375;AK314257;AL590436;AL606517;AMYH02001172;AMYH02001173;BC009079;BC023604;BC062431;BC111401;BC132729;BX647675;BX648044;CH471059;HC002094;KC876867;KC876881;M64174;NG_023402;NM_002227;XM_005270841;XM_006710624 AAA36527;AAH23604;AAH62431;AAI11402;AAI32730;BAD92294;BAE02826;CBG22571;EAX06547;EAX06548;NP_002218;P23458;XP_005270898;XP_006710687 Hs.207538 1341724;1656313;1692336;1693120;1719587;1771673;2130274;2175041 AL033825;AL034288;D1S2825;G22293;RH123697;SHGC-74938;SHGC-74942;SHGC-74955 JAK-1;JAK1A;JAK1B;JTK3 Janus kinase 1 (a protein tyrosine kinase);OTTHUMP00000010896;tyrosine-protein kinase JAK1 APPROVED protein-coding ENSG00000162434 HGNC:6190 00992 147795 REVIEWED 5684146 JARID2-AS1 JARID2 antisense RNA 1 6 6 6 p22.3 16485946 16486785 - 15248048 15248927 - 15247686 15248696 - 12477932 100506681 AI218808;AL136162;AMYH02013162;AMYH02013163;BC033996;HY051522;NR_120502;XR_108680;XR_251970 Hs.664092 APPROVED ncrna HGNC:40314 VALIDATED 1343747 JAM2 junctional adhesion molecule 2 This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012] 21 21 21 q21.2 12195003 12270650 + 27011594 27089874 + 25639282 25717562 + 1580863;6480464;7488919;8554872 16297198 10779521;10830953;10945976;11076863;11590146;11823489;12036298;12070135;12476045;12477932;12810109;12953056;12975309;14519386;14702039;15340161;15489334;15489336;16335952;16381901;17057644;17525755;17822725;18329007;18574677;19734545;20624003;21982860;21988832;23277282 58494 A8MQ45;H0YEX9;P57087 ABBA01057211;AF255910;AI742752;AK056079;AK294769;AK312708;AMYH02037647;AMYH02037648;AP000223;AP000224;AP000225;AP000226;AX772824;AY016009;AY077698;AY358361;BC017779;BG540412;BM804795;BM921497;CH471079;CX870550;KF457126;NM_001270407;NM_001270408;NM_021219;NR_072999;XM_006724037 AAF81223;AAG49022;AAH17779;AAL82538;AAQ88727;BAG35586;BAG57900;CAE06261;CAL37679;CAL37748;CAL38686;EAX09976;EAX09977;EAX09978;NP_001257336;NP_001257337;NP_067042;P57087;XP_006724100 Hs.517227 1647197;1653045;1665103;1679535;1742123;1784466;2159256;5037552;5118576 Cda18a04;D11S3430;D8S2279;G34697;GDB:191984;RH94377;SHGC-170146;SHGC-87519;STS-R68464 C21orf43;CD322;JAM-2;JAM-B;JAM-IT/VE-JAM;JAMB;PRO245;VE-JAM OTTHUMP00000096100;OTTHUMP00000096101;OTTHUMP00000096102;OTTHUMP00000096103;OTTHUMP00000096104;OTTHUMP00000096105;VEJAM;junctional adhesion molecule B;vascular endothelial junction-associated molecule APPROVED protein-coding ENSG00000154721 HGNC:14686 06041 606870 REVIEWED 1344750 JBS Jacobsen syndrome ASSOCIATED WITH Johanson Blizzard syndrome (inferred) 7240710 3719 HGNC:6194 243800 1351723 JBTS1 Joubert syndrome 1 ASSOCIATED WITH Joubert syndrome 1 (inferred); MORM syndrome (inferred) 7240710 10577920 50955 HGNC:21089 213300;610156 1604718 JAZF1 JAZF zinc finger 1 This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008] 7 7 7 p15.2-p15.1 27860144 28210060 - 27870192 28220437 - 27830573 28180818 - 6480464 11371647;12477932;12690205;14702039;15043312;15302918;15489334;16344560;16397222;17197920;17667554;18077430;18264096;18372903;18567820;18591388;18694974;18714373;18722875;18772439;18794092;18952825;19020323;19020324;19139842;19225753;19247373;19258404;19318432;19324937;19343178;19366831;19423541;19502414;19542872;19549807;19592620;19602701;19670153;19720844;19741467;19794065;19833888;19838195;19862325;19866473;19900942;19902474;19933996;19998368;20075150;20161779;20203524;20379614;20406958;20450899;20460480;20490451;20546612;20581827;20690139;20712903;20717903;20816152;20878950;20879858;20881960;20889853;20927120;21068098;21071540;21890473;22113416;22918161;23128233;23328127;23400010;23563607;23740937;24390342;8401585 221895 C9JGY8;C9JKQ6;C9JWY1;F8WCD3;F8WD35;H0Y403;Q86VZ6 ABBA01056776;ABBA01056777;ABBA01056778;ABBA01056779;ABBA01056780;AC004007;AC004549;AC004885;AC005017;AK000711;AK091311;AL832491;AL834234;AMYH02015422;AMYH02015423;AMYH02015424;AMYH02015425;AMYH02015426;AMYH02015427;AY372319;BC042441;BC047229;CH236948;CH471073;DA864624;NG_011499;NM_175061;XM_006715656 AAH42441;AAQ74874;ABZ92144;BAG52333;CAD38912;CAH10579;EAL24212;EAW93905;NP_778231;Q86VZ6;XP_006715719 Hs.368944 1335975;1338347;1644916;1663948;1673704;1680094;1687215;1691384;1697134;1710990;1711834;1711844;1713687;1730447;1739169;1767155;1773971;1788466;1851707;1852328;1853276;1856898;2126436;2126649;2129962;2134130;2146643;2166742;2173576;7183704;7186951 D7S1535;D7S1569;D7S1590;D7S1808;D7S1987;D7S2272;D7S2835;D7S516;D7S547;G29216;G42089;G49448;G49453;GDB:1318436;GDB:4585731;RH102053;RH120726;RH36495;RH92604;RH98830;SHGC-52834;SHGC-56019;SHGC-57972;SHGC-58372;SHGC-84867;STS-T95652;WI-14586;WI-22677;fa14e09.s1 DKFZp761K2222;TIP27;ZNF802 OTTHUMP00000158681;OTTHUMP00000202334;OTTHUMP00000202336;OTTHUMP00000202339;TAK1-interacting protein 27;juxtaposed with another zinc finger gene 1;juxtaposed with another zinc finger protein 1;zinc finger protein 802 APPROVED protein-coding ENSG00000153814 HGNC:28917 09373 606246 REVIEWED 5684130 JAZF1-AS1 JAZF1 antisense RNA 1 7 7 7 p15.1 28209699 28270613 + 28220076 28281523 + 28180457 28241377 + 20379614;21980299 100128081 ABBA01056780;ABBA01056781;AC005017;AK293540;AMYH02015426;AMYH02015427;CH236948;DB481568;HG500142;HG500143;NR_034097 BAH11527 Hs.434307 AC005017.1;FLJ59585 APPROVED ncrna HGNC:41218 VALIDATED 1354253 JARID2 jumonji, AT rich interactive domain 2 This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012] 6 6 6 p24-p23 16484424 16760206 + 15246206 15522273 + 15245975 15522042 + 1580863;6480464;9586018;9586019;8554872 18805276;22681640 10807864;10913339;12477932;12890668;14574404;15057990;15174051;15489334;15542826;16967465;19010785;19010793;19322201;19759154;19884986;20075857;20123894;22110129;22116950;22190018;22215809;23294540;23349640;23435416;24374312;24457600;24462204;24856900;8894700 3720 Q92833 ABBA01022168;ABBA01022169;ABBA01022170;ABBA01022171;ABBA01022172;ABBA01022173;AF401209;AK126552;AK292861;AK299349;AK302624;AK303610;AL021938;AL136162;AMYH02013162;AMYH02013163;AMYH02013164;AMYH02013165;AMYH02013166;AMYH02013167;AMYH02013168;AMYH02013169;BC046184;BC046246;CA435807;CH471087;KF458103;KF458104;NM_001267040;NM_004973;U57592;XM_005249089 AAC50822;AAH46184;AAH46246;AAL02168;BAF85550;BAH13011;BAH13765;BAH13996;EAW55357;EAW55358;NP_001253969;NP_004964;Q92833;XP_005249146 Hs.269059 1337699;1337794;1340636;1654135;1668065;1670642;1675199;1676200;1694812;1710746;1715667;1724683;1730489;1730491;1739075;1750077;1753157;1760969;1771291;1850531;2111322;2122123;2145011;2150183;2155615;2159448;2174103;2217506;7184722;7186828;7187935 B346XE1;D6S1103E;D6S1349;D6S2005;D6S260;D6S289;D6S339;D6S469;D6S89;G43636;JARID2_3393;RH119279;RH121346;RH1514;RH37458;RH37571;RH44612;RH45453;RH45704;RH92536;SHGC-110030;SHGC-112331;SHGC-144924;SHGC-58076;SHGC-58184;SHGC-84005;STS-N32962;WI-12425 JMJ OTTHUMP00000016058;jumonji homolog;jumonji-like protein;jumonji/ARID domain-containing protein 2;protein Jumonji APPROVED protein-coding ENSG00000008083 HGNC:6196 03355 601594 REVIEWED 1602305 JDP2 Jun dimerization protein 2 ENCODES a protein that exhibits chromatin binding (inferred); double-stranded DNA binding (inferred); protein heterodimerization activity (inferred); INVOLVED IN negative regulation of fat cell differentiation (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); positive regulation of histone deacetylation (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 14 14 14 q24.3 55932590 55977500 + 75894509 75939404 + 75427806 75472701 + 6480464 11231009;11602244;12052888;12101239;12225289;12477932;12650714;12707301;14627710;16026868;17347654;17545590;18307971;18396163;18671972;19322201;19553667;20211142;20452405;20677166;20950777;21525011;22699663;22989952;23251661;24120378;24232097;8889548;9154808 122953 H0YKE4;Q8WYK2 AB077880;ABBA01030697;ABBA01030698;ABBA01030699;AC009363;AF111167;AI916777;AMYH02029539;AMYH02029540;AMYH02029541;BC051303;BC068196;BE389064;BU740697;CH471061;NM_001135047;NM_001135048;NM_001135049;NM_130469;XM_005267332;XM_006720031;XM_006720032;XM_006720033 AAC98313;AAF21148;AAH51303;BAB83896;EAW81231;EAW81232;EAW81233;NP_001128519;NP_001128520;NP_001128521;NP_569736;Q8WYK2;XP_005267389;XP_006720094;XP_006720095;XP_006720096 Hs.196482 1649823;1694686;1761221;1769860;2168741 G10731;G43530;RH48884;SHGC-145231;WI-17116 JUNDM2 progesterone receptor co-activator protein-coding ENSG00000140044 HGNC:17546 16360 608657 VALIDATED 737072 ITSN1 intersectin 1 (SH3 domain protein) The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008] 21 21 21 q22.1-q22.2 20214405 20461193 + 35014706 35261609 + 33642400 33889305 + 1580863;6480464;6484113;8554872 10064583;10072581;10373452;10482960;10716926;10777571;10830953;10922467;11381094;11584276;11690630;11744688;11756498;12006984;12376548;12389031;12477932;12787561;12812986;12960435;12970366;14702039;15203208;15231748;15256501;15302935;15719014;15824104;15834155;16169070;16442855;16696976;16874303;16903783;16914641;17081983;17140284;17405881;18029348;18067320;18539136;18654987;18692052;19166927;19356586;19777371;20448150;20493827;20659428;20842712;20936779;20946875;21129155;21139048;21503949;21712076;21876463;21890473;21900206;22266851;22558309;22648170;22745667;22750298;22939629;23000965;23936226;24284073;24816145;25036637;9465890;9630982;9799604;9813051 6453 A7XZY7;C9J1A4;C9JQZ7;C9JXS9;E9PD98;F8W7U0;H0Y3G5;H0Y523;H0Y6W3;H0Y7J7;H7C3F1;H7C429;Q15811;Q6J334;Q6PD56 ABBA01057354;ABBA01057355;ABBA01057356;ABBA01057357;ABBA01057358;ABBA01057359;ABBA01057360;ABBA01057361;ABBA01057362;AF064243;AF064244;AF064245;AF085873;AF114487;AF114488;AF180522;AI857585;AK027846;AK074554;AK075290;AK300274;AMYH02037744;AMYH02037745;AMYH02037746;AMYH02037747;AMYH02037748;AMYH02037749;AP000308;AP000309;AP000310;AP000311;AP000312;AP000313;AY138139;AY254341;AY340592;AY340593;AY603418;AY603419;AY605091;AY605092;AY639648;AY639649;AY639651;AY639652;AY639653;BC013578;BC020269;BC039036;BC058925;BC073744;BC116185;BC116186;BC117560;BX538175;CH471079;DQ340865;DQ386455;DQ679754;DQ679755;DQ679756;DQ679757;EU107386;EU117382;EU120733;EU120734;EU120735;EU120736;EU140799;EU140800;EU152331;EU191901;GU939616;GU939617;GU939621;KF457227;KF511399;KF511404;NG_029504;NM_001001132;NM_003024;U61166;XM_005261026;XM_005261027;XM_005261031;XR_244289 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86926;REN86927;REN86928;REN86929;REN86930;REN86931;REN86932;REN86933;REN86934;REN86935;REN86936;REN86937;REN86938;REN86939;REN86940;REN86941;REN86942;REN86943;REN86944;REN86945;REN86946;REN86947;REN86948;REN86949;REN86950;REN86951;REN86952;REN86953;REN86954;REN86955;REN86956;REN86957;REN86958;REN86959;REN86960;REN86961;REN86962;REN86963;REN86964;REN86965;REN86966;REN86967;REN86968;REN86969;REN86970;REN86971;REN86972;REN86973;REN86974;REN86975;REN86976;REN86977;REN86978;REN86979;REN86980;REN86981;REN86982;REN86983;REN86984;REN86985;REN86986;REN86987;REN86988;REN86989;REN86990;REN86991;REN86992;REN86993;REN86994;REN86995;REN86996;REN86997;REN86998;REN86999;REN87000;REN87001;REN87002;REN87003;REN87004;REN87005;REN87006;REN87007;REN87008;REN87009;REN87010;REN87011;REN87012;REN87013;REN87014;REN87015;REN87016;REN87017;REN87018;REN87019;REN87020;REN87021;REN87022;REN87023;REN87024;REN87025;REN87026;REN87027;REN87028;REN87029;REN87030;REN87031;REN87032;REN87033;REN87034;REN87035;REN87036;REN87037;REN87038;REN87039;REN87040;REN87041;REN87042;REN87043;REN87044;REN87045;REN87046;REN87047;REN87048;REN87049;REN87050;REN87051;REN87052;REN87053;REN87054;REN87055;REN87056;REN87057;REN87058;REN87059;REN87060;REN87061;REN87062;REN87063;REN87064;REN87065;REN87066;REN87067;REN87068;REN87069;REN87070;REN87071;REN87072;REN87073;REN87074;REN87075;REN87076;REN87077;REN87078;REN87079;REN87080;REN87081;REN87082;REN87083;REN87084;REN87085;REN87086;REN87087;REN87088;REN87089;REN87090;REN87091;REN87092;REN87093;REN87094;REN87095;REN87096;REN87097;REN87098;REN87099;REN87100;REN87101;REN87102;RH104301;RH119211;RH122567;RH16546;RH80986;SHGC-170113;SHGC-170295;SHGC-170327;SHGC-37625;SHGC-51824;SHGC-51883;SHGC-6846;SHGC-7353;SHGC-87560;SHGC-87572;SHGC-87604;STS-F02358;STS-H50535;stSG607333;stSG607335;stSG607336;stSG607337;stSG607338;stSG607340;stSG607341;stSG607342;stSG607343;stSG607344;stSG607345;stSG607346;stSG607347;stSG607348;stSG607349;stSG607350;stSG607351;stSG607352;stSG607353;stSG607354;stSG607355;stSG607356;stSG607357;stSG607358;stSG607361;stSG607362;stSG607364;stSG607365;stSG607366;stSG607367;stSG607369;stSG607370;stSG607371;stSG607372;stSG607373;stSG607374;stSG607375;stSG607376;stSG607378;stSG607379;stSG607380;stSG607381;stSG607382;stSG607383;stSG607384;stSG607385;stSG607386;stSG607387;stSG607388;stSG607389;stSG607391;stSG607392;stSG607393;stSG607394;stSG607395;stSG607396;stSG607398;stSG607399;stSG607400;stSG607401;stSG607403;stSG607404;stSG607405;stSG607406;stSG607407;stSG607408;stSG607409;stSG607410;stSG607411;stSG607412;stSG607413;stSG607414;stSG607415;stSG607416;stSG607417;stSG607419;stSG607420;stSG607421;stSG607422;stSG607423;stSG607424;stSG607425;stSG607426;stSG607427;stSG607428;stSG607429;stSG607430;stSG607431;stSG607432;stSG607433;stSG607434;stSG607435;stSG607436;stSG607437;stSG607438;stSG607439;stSG607440;stSG607441;stSG607442;stSG607443;stSG607444;stSG607445;stSG607446;stSG607447;stSG607448;stSG607449;stSG607450;stSG607451;stSG607452;stSG607453;stSG607454;stSG607455;stSG607456;stSG607457;stSG607458;stSG607460;stSG607461;stSG607463;stSG607464;stSG607465;stSG607466;stSG607467;stSG607468;stSG607469;stSG607470;stSG607471;stSG607472;stSG607473;stSG607474;stSG607475;stSG607477;stSG607478;stSG607479;stSG607480;stSG607481;stSG607482;stSG607483;stSG607485;stSG607486;stSG607487;stSG607488;stSG607489;stSG607490;stSG607491;stSG607492;stSG607494;stSG607495;stSG607496;stSG607497;stSG607498;stSG607499;stSG607500;stSG607501;stSG607502;stSG607505;stSG607506;stSG607510;stSG607511;stSG607512;stSG607513;stSG607515;stSG607517;stSG607518;stSG607519;stSG607520;stSG607521;stSG607522;stSG607523;stSG607524;stSG607525;stSG607526;stSG607527 ITSN;MGC134948;MGC134949;SH3D1A;SH3P17 OTTHUMP00000067855;OTTHUMP00000067856;OTTHUMP00000067857;OTTHUMP00000194810;OTTHUMP00000194811;OTTHUMP00000194812;OTTHUMP00000206688;SH3 domain protein-1A;SH3 domain-containing protein 1A;Src homology 3 domain-containing protein;human intersectin-SH3 domain-containing protein SH3P17;intersectin 1 short form variant 3;intersectin 1 short form variant, 11;intersectin short variant 12;intersectin-1 APPROVED protein-coding ENSG00000205726 HGNC:6183 03898 602442 REVIEWED 1318960 JKAMP JNK1/MAPK8-associated membrane protein ENCODES a protein that exhibits ubiquitin protein ligase binding; INVOLVED IN ER-associated ubiquitin-dependent protein catabolic process; FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; formaldehyde 14 14 14 q23.1 40000231 40021171 + 59951161 59972081 + 59484443 59505407 + 6480464 11042152;11076863;11230166;12477932;12800201;14702039;15489334;15489336;16166642;16381901;18784250;19269966;20379614;22505724;23798571 51528 B3KPC2;G3V2M4;G3V2R2;G3V372;G3V4D0;Q9P055 AA461198;ABBA01018270;AF151047;AF161445;AF212245;AF529304;AK021683;AK027591;AK056145;AK128628;AK298209;AL121694;AL136696;AL159140;AL162471;AMYH02029290;BC005198;BC010359;BU928810;BX161501;CH471061;CR457163;CR533510;DC381037;HY340214;NM_001098625;NM_001284201;NM_001284202;NM_001284203;NM_001284204;NM_016475;XM_006720171 AAF29005;AAF36133;AAG41781;AAH05198;AAH10359;AAP85636;BAB13874;BAB55216;BAG51634;BAG60479;CAB66631;CAD61945;CAG33444;CAG38541;CAL37437;CAL37512;EAW80753;EAW80754;EAW80755;EAW80756;EAW80757;EAW80758;NP_001092095;NP_001271130;NP_001271131;NP_001271132;NP_001271133;NP_057559;Q9P055;XP_006720234 Hs.446850 1647744;2114394;2114396;2117841;2117843;2123172;2140584 A005P02;A006D06;D14S828;G20388;G20716;RH11221;SHGC-24111 C14orf100;CDA06;HSPC213;HSPC327;JAMP JNK-associated membrane protein;JNK1-associated membrane protein;Jun N-terminal kinase 1-associated membrane protein;OTTHUMP00000244973;OTTHUMP00000244974;OTTHUMP00000244977;OTTHUMP00000244978;medulloblastoma antigen MU-MB-50.4 APPROVED protein-coding ENSG00000050130 HGNC:20184 12623 611176 VALIDATED 1346212 JAM3 junctional adhesion molecule 3 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011] 11 11 11 q25 131112218 131194832 + 133938820 134021652 + 134068925 134151757 + 6480464;7240710;7488919;7488920;7488936;7488944;7488935;7488937;8554872;8699517 15994945;16297198;19439502;22323465;22950044;23001478 11590146;11739175;11823489;11944976;12070135;12208882;12477932;12810109;12953056;12975309;14702039;15194813;15340161;15485832;15489334;15811349;15879142;16118203;16195363;16303743;16410001;16916751;17057644;17116731;17227766;17429428;17612407;17625065;17822725;18048693;18821692;19143587;19204148;19308021;19461049;19913121;20135068;20592283;20628086;21109224;21593193;21796628;21890473;21982860;22053931;23221386;23255084;23277282;23825230;24584816;8125298 83700 H0YCW9;H0YD98;Q9BX67 ABBA01031111;ABBA01031112;AF356518;AF448478;AJ344431;AJ416101;AK027435;AK074769;AK075309;AK125071;AK225666;AMYH02025833;AP000911;AP001775;AY358335;BC010690;BC012147;BC057284;BC063031;CH471065;CQ782704;CQ783910;HI574154;JA238009;NG_028348;NM_001205329;NM_032801;W76344 AAH10690;AAH12147;AAK27221;AAM20925;AAQ88701;BAC11195;BAC11538;BAG54131;CAC69845;CAC94776;CAF85939;CAF86920;CBX47566;CCA65346;EAW67817;EAW67818;EAW67819;EAW67820;NP_001192258;NP_116190;Q9BX67 Hs.150718 1647569;1651760;1652728;1667426;1674276;1682315;1686328;1767595;1774621;1796148;2161309;2163234 A008R34;AFM193yh2;D11S1045;D11S2387;G02300;JAM3_1398;RH26817;RH40091;SHGC-35044;WI-11521;WI-21682;WI-8498 FLJ14529;JAM-2;JAM-3;JAM-C;JAMC OTTHUMP00000235250;OTTHUMP00000235251;junctional adhesion molecule C APPROVED protein-coding ENSG00000166086 HGNC:15532 06042 606871;613730 REVIEWED 7240943 JMJD1C-AS1 JMJD1C antisense RNA 1 10 10 10 q21.3 58492504 58493838 + 65224989 65226323 + 63465229 63466563 + 12477932 84989 ABBA01019503;AC022022;AK314171;AMYH02023201;BC007866;CH471083;NR_027182 BAG36854;EAW54245 Hs.659950 ncrna ENSG00000272767 HGNC:28222 VALIDATED 7248208 JHDM1D-AS1 JHDM1D antisense RNA 1 (head to head) 7 7 7 q34 134598861 134601241 + 139877061 139879440 + 140177261 140179640 + 16344560 100134229 AA493421;ABBA01034061;AC004849;AK026372;AMYH02016897;CH236950;DA585317;DA816865;NR_024451 Hs.634333 ncrna ENSG00000260231 HGNC:48959 VALIDATED 1320591 JMJD1C jumonji domain containing 1C ENCODES a protein that exhibits dioxygenase activity (inferred); metal ion binding (inferred); thyroid hormone receptor binding (inferred); INVOLVED IN blood coagulation (inferred); chromatin modification (inferred); oxidation-reduction process (inferred); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleoplasm (inferred); INTERACTS WITH (-)-demecolcine; 2-methylcholine; atrazine 10 10 10 q21.3 58194301 58493237 - 64926983 65225880 - 63167221 63521844 - 1580863;6480464;7242632;8554872 23200123 10718198;11500849;12477932;14533015;14702039;16385451;17290275;17353003;17353931;17549425;18940312;19820697;19936222;20379614;20526338;20648472;20686565;21139048;21900206;22001757;22139419;22354554;22423221;22829776;22890011;22936694;23263863;23455924;23593242;23969696;24026423;24097068;24240613;24318875;24501218;7776974 221037 B7ZLC8;H7BXU7;Q15652 AB037801;ABBA01019497;ABBA01019498;ABBA01019499;ABBA01019500;ABBA01019501;ABBA01019502;ABBA01019503;AC022022;AK024991;AK027280;AK056660;AK095584;AK123507;AK126040;AL590502;AL607128;AL713895;AL831917;AMYH02023200;AMYH02023201;AU185724;BC026268;BC037981;BC047331;BC065742;BC067238;BC108649;BC126403;BC143722;BF243713;BX537954;CH471083;DR002533;DR762886;EF068222;HI574084;HI574086;KF455248;L40411;NM_001282948;NM_032776;XM_005269622;XM_005269624;XM_005269626;XM_005269627;XM_005269628;XM_006717707 AAC41741;AAH26268;AAI43723;AAI56415;ABK64187;BAA92618;CAD38578;CAD97921;CBX47531;CBX47532;EAW54242;EAW54243;NP_001269877;NP_116165;Q15652;XP_005269679;XP_005269681;XP_005269683;XP_005269684;XP_005269685;XP_006717770 Hs.413416 1340058;1645543;1656228;1673856;1678787;1740865;1748547;1773760;1848829;1857224;2123127;2135101;2176228;5092692;7186406 A005Q22;D10S1572;D10S561;D20S1080;G32269;RH44815;RH46053;RH47880;RH80661;SHGC-130658;SHGC-36251;STS-AA011025;STS-N24840;WI-22650 DKFZp761F0118;FLJ14374;KIAA1380;RP11-10C13.2;TRIP-8;TRIP8 OTTHUMP00000019677;TR-interacting protein 8;jumonji domain-containing protein 1C;probable JmjC domain-containing histone demethylation protein 2C;thyroid hormone receptor interactor 8;thyroid receptor interacting protein 8;thyroid receptor-interacting protein 8 protein-coding ENSG00000171988 HGNC:12313 05141 604503 VALIDATED 1607006 JMJD4 jumonji domain containing 4 INTERACTS WITH all-trans-retinoic acid; atrazine; copper atom 1 1 1 q42.13 201110595 201114816 - 227918890 227923284 - 227731189 227735411 - 6480464 12477932;14702039;20881960;21139048;21890473;21906983;21963094;22505724;23455924;24250222 65094 Q9H9V9 AA594981;ABBA01009609;AK022579;AK023030;AK026908;AL136378;AMYH02002831;BC011928;BC109272;CH471098;NM_001161465;NM_023007 BAB14109;BAB14366;EAW69818;EAW69819;NP_001154937;NP_075383;Q9H9V9 Hs.555974;Hs.745334 FLJ12517;MGC129896 OTTHUMP00000035836;OTTHUMP00000035837;jmjC domain-containing protein 4;jumonji domain-containing protein 4 protein-coding ENSG00000081692 HGNC:25724 07774 VALIDATED 1601801 JMJD8 jumonji domain containing 8 ASSOCIATED WITH SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 931824 934596 - 731667 734440 - 681667 684440 - 6480464 11157797;12477932 339123 Q96S16 ABBA01030356;AE006464;AF370420;AI022970;AMYH02031202;BC073785;BC094850;BC137100;BC137101;BI463867;CH471112;DQ074695;NG_034141;NM_001005920;XM_005255295;XM_005255297;XM_006720878;Z92544 AAH73785;AAH94850;AAI37101;AAI37102;AAK61243;AAQ15256;AAY82251;EAW85754;EAW85755;NP_001005920;Q96S16;XP_005255352;XP_005255354;XP_006720941 Hs.533771 1680637;2132198;5023495 IB740;RH15604;SHGC-60692 C16orf20;PP14397 jmjC domain-containing protein 8;jumonji domain-containing protein 8 protein-coding ENSG00000161999 HGNC:14148 17351 VALIDATED 2290030 JMJD7-PLA2G4B JMJD7-PLA2G4B readthrough This locus represents naturally-occurring readthrough transcription between the neighboring jumonji domain containing 7 (JMJD7) and phospholipase A2, group IVB (cytosolic) (PLA2G4B) genes. Readthrough transcripts encode fusion proteins that share amino acid sequence with each individual gene product, including a partial JmjC domain and downstream C2 and phospholipase A2 domains. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Oct 2013] 15 15 15 q11.2-q21.3 18887926 18907988 + 42120283 42140346 + 41828085 41848148 + 6907045;6480464;8554872 10085124;10358058;11741884;12477932;15274049;15489334;15862967;15999343;16344560;16617059;19913121;20628086;20967262;8125298;8889548;8889549;9377118;9745929 8681 H0Y9G9;P0C869 AA064721;AB209150;ABBA01038386;AC020659;AF065215;AF065216;AF121908;AMYH02030278;AMYH02030279;BC013415;BC128426;BI768993;BU688449;CH471125;DA080158;DA096882;DA121536;DQ523799;DQ523800;NG_029927;NM_001198588;NM_005090 AAC78836;AAD32135;AAI72355;ABF69195;ABF69196;BAD92387;EAW92521;NP_001185517;NP_005081 Hs.198161 1679948;1693564;1698676;1736504;1849353;1853410;2114144;5015619;5015621;5022578 A004M13;D11S3114;D11S3732;D15S711E;D1S1423;NIB1403;RH102897;RH91785;SHGC-58472;WI-13757 HsT16992;PLA2G4B;cPLA2-beta JMJD7-PLA2G4B read-through;JMJD7-PLA2G4B readthrough transcript;OTTHUMP00000041703;OTTHUMP00000201605;OTTHUMP00000210673;jumonji domain containing 7-phospholipase A2, group IVB (cytosolic) read-through;phospholipase A2, group IVB (cytosolic) APPROVED protein-coding ENSG00000168970 HGNC:34449 07306 REVIEWED 731748 JAK2 Janus kinase 2 This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008] 9 9 9 p24 4910860 5053802 + 4985245 5129948 + 4985245 5129948 + 737719;1624963;1580863;1625125;1625126;737794;1357939;1300048;1357935;1627655;1627661;1641841;1641809;1600094;1600095;2302071;5133683;5686839;6478796;6480464;6483031;6483049;6483034;6483024;6483026;6483023;6483032;6483019;6483022;6483025;6483030;6483041;6484113;6483020;4892610;6483037;6907045;7240710;8694326;8554872;8699517;8694328;8694329;8694332 11064147;12032773;12039028;14630696;15316008;15781101;15932931;15948243;16269269;17010638;17021051;17312100;17823504;17897356;18079966;18636982;18782535;20440769;20627814;20808962;21510883;21596098;21685897;21880982;21881215;22066025;22269120;22275361;23404057;23764464;23796350;24161994;9287353;9314843;9590173;9590174 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3717 O60674 ABBA01065417;ABBA01065418;AF001362;AF005216;AF058925;AI923337;AK292525;AK302618;AK308668;AL158147;AL161450;AL513350;AMYH02019081;AMYH02019082;AMYH02019083;AY973034;AY973037;BC039695;BC043187;CH471071;EF094945;EF194100;NG_009904;NM_004972;XM_005251455 AAB82092;AAC23653;AAC23982;AAH39695;AAY16348;AAY22962;ABK91947;ABM69254;BAF85214;BAG63863;EAW58774;NP_004963;O60674;XP_005251512 Hs.656213 1673370;1688263;1752617;1796144;2136290;2144260;5491971 JAK2-1;JAK2_1315;RH65887;RH92501;SHGC-106489;STS-U89896;WI-11536 JAK-2;JTK10;THCYT3 Janus kinase 2 (a protein tyrosine kinase);OTTHUMP00000021024;tyrosine-protein kinase JAK2 APPROVED protein-coding ENSG00000096968 HGNC:6192 00993 133100;147796;254450;263300;600880;601626;614521 REVIEWED 2298734 JMJD7 jumonji domain containing 7 This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008] 15 15 15 q15.1 18887926 18897428 + 42120283 42129785 + 41828085 41837587 + 6480464;8554872 10085124;10358058;11181995;12477932;15489334;15809658;16344560;16617059;19913121;20628086;8125298;8889548 100137047 B5MC20;C9K0I3;P0C870 ABBA01038386;AC020659;AK000550;AK000663;AK000814;AK225503;AK289833;AK290051;AMYH02030278;AMYH02030279;BC025290;BC067834;BC110415;BC139899;BU739980;CH471125;DA100207;NG_029927;NM_001114632 AAH25290;AAI39900;BAA91385;BAF82522;BAF82740;EAW92520;NP_001108104;P0C870 Hs.198161 1698676;1849353;2114144 A004M13;NIB1403;RH102897 FLJ20543;FLJ20656;FLJ20807;FLJ77014;FLJ78330 OTTHUMP00000201602;OTTHUMP00000201603;OTTHUMP00000201608;jmjC domain-containing protein 7;jumonji domain-containing protein 7 APPROVED protein-coding ENSG00000243789 HGNC:34397 VALIDATED 1345689 JMS Juberg-Marsidi syndrome 3721 HGNC:6197 8548392 JKAMPP1 JNK1/MAPK8-associated membrane protein pseudogene 1 9 9 9 p23 12219928 12221838 + 12287323 12289233 + 12287323 12289233 + 100049717 ABBA01065323;AL357772;AMYH02019171;NG_006081 pseudo HGNC:49759 INFERRED 1606979 JOSD2 Josephin domain containing 2 This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 19 19 19 q13.33 48060563 48065647 - 51009254 51014612 - 50505997 50511355 - 6480464 12477932;15342556;15489334;16611142;17696782;19615732;21118805;21890473;21906983;22118674;23625928;8889548 126119 M0QZL8;Q7Z7N5;Q8TAC2 ABBA01068319;AC008743;AF247787;AK131052;AMYH02036354;AMYH02036355;AMYH02036356;BC051380;BC062416;BM970016;BP328576;CH471135;HY056543;NM_001270639;NM_001270640;NM_001270641;NM_001270686;NM_138334 AAH51380;AAH62416;AAL95692;EAW71874;EAW71875;EAW71876;EAW71877;NP_001257568;NP_001257569;NP_001257570;NP_001257615;NP_612207;Q8TAC2 Hs.467151;Hs.737597 1697124 RH102046 FLJ29018;SBBI54 Josephin-2;josephin domain-containing protein 2 APPROVED protein-coding ENSG00000161677 HGNC:28853 15297 615324 REVIEWED 1350132 JPD juvenile periodontitis ASSOCIATED WITH Aggressive Periodontitis (inferred); Keratosis palmoplantaris with periodontopathia and onychogryposis (inferred); Papillon-Lefevre Disease (inferred) 7240710 3722 HGNC:6198 170650;245000;245010 1604837 JOSD1 Josephin domain containing 1 ENCODES a protein that exhibits omega peptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (+)-catechin; benzene; cyclosporin A 22 22 22 q13.1 22888225 22903135 - 39081548 39097423 - 38685543 38701418 - 6480464;8554872 10591208;12477932;12486728;15461802;15489334;18029348;18579725;19322201;19382171;19615732;19946888;21139048;21890473;21906983;21963094;21987572;22053931;22505724;22626734;22889411;23000965;23625928;25015289;7584044 9929 B0QY55;B0QY56;B0QY57;B0QY58;H0YGT9;Q15040 ABBA01055530;ABBA01055531;AK291827;AL021707;AMYH02038361;BC015026;CH471095;CR456473;CR456923;D31884;NM_014876;XM_005261876;XM_005261877;XM_005261878;XM_005261879 AAH15026;BAA06682;BAF84516;CAG30359;CAG33204;CAK54454;CAK54753;EAW60259;EAW60260;NP_055691;Q15040;XP_005261933;XP_005261934;XP_005261935;XP_005261936 Hs.3094 1666615;1667125;1682185;1685069;1690057;2129830;2147682;5022322 =D22S272;AL022555;D11S2560;D22S923;RH25296;RH91494;SGC31584;SHGC-3369 KIAA0063;dJ508I15.2 Josephin-1;OTTHUMP00000198984;OTTHUMP00000198988;OTTHUMP00000239365;josephin domain-containing 1;josephin domain-containing protein 1 protein-coding ENSG00000100221 HGNC:28953 08823 615323 VALIDATED 1313400 JMJD6 jumonji domain containing 6 This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25 71301287 71315250 - 74708914 74722881 - 76712832 76726799 - 6480464;8554872 10811223;11877474;12477932;12559004;12898702;14645848;14702039;14729065;15072554;15193161;15345036;15453906;15469976;15489334;15622002;16983801;17534701;17947579;18564434;19492415;19574390;20574068;20679243;20684070;21139048;21300889;21890473;21906983;21963094;22189873;22505724;22621393;22701020;22863883;23303181;23455924;23595221;23688307;23776548;24360279;24816145;9628581 23210 B2WTI3;B2WTI4;K7EJU9;Q6NYC1 AA226560;AA775442;AB011157;AB073711;ABBA01028731;AC005837;AK021780;AK294816;AK314541;AMYH02034020;AMYH02034021;BC016837;BC047003;BC066654;CH471099;DB451815;EF527406;EF527407;NM_001081461;NM_015167 AAH47003;AAH66654;ABU68576;ABU68577;BAA25511;BAC16755;BAG51050;BAG57932;EAW89429;EAW89430;EAW89431;EAW89432;EAW89433;EAW89434;NP_001074930;NP_055982;Q6NYC1 Hs.514505 1677842;2109707;5015619 D11S3114;PTDSR_9319;RH93087 KIAA0585;PSR;PTDSR;PTDSR1 OTTHUMP00000240609;OTTHUMP00000240610;OTTHUMP00000240612;bifunctional arginine demethylase and lysyl-hydroxylase JMJD6;histone arginine demethylase JMJD6;jmjC domain-containing protein 6;jumonji domain-containing protein 6;lysyl-hydroxylase JMJD6;peptide-lysine 5-dioxygenase JMJD6;phosphatidylserine receptor APPROVED protein-coding ENSG00000070495 HGNC:19355 05371 604914 REVIEWED 3322361 JPX JPX transcript, XIST activator (non-protein coding) JPX is a nonprotein-coding RNA transcribed from a gene within the X-inactivation center (XIC; MIM 314670) that appears to participate in X chromosome inactivation (Tian et al., 2010 [PubMed 21029862]).[supplied by OMIM, Feb 2011] X X X q13.2 73447638 73573698 + 73164159 73290219 + 73944324 74070384 + 6480464 12477932;14702039;17567985;21029862;21254562 554203 ABBA01059608;ABBA01059609;ABBA01059610;ABBA01059611;ABBA01059612;ABBA01059613;ABBA01059614;ABBA01059615;ABBA01059616;ABBA01059617;ABBA01059618;ABBA01059619;ABBA01059620;ABBA01059621;ABBA01059622;ABBA01059623;ABBA01059624;ABBA01059625;AK056172;AL139400;AL353804;AL627389;AMYH02039774;AV714079;BC029480;BC071776;BP871721;HG512593;KF459160;NR_024582 Hs.648316 1644804;1653279;1658510;1702582;2121526;2136172;2148538;2165832;2171257;2175900;5014051;5014740;5015619;5016478;5021872;5022578;5037552 A007J18;AFM352tf5;D11S3114;D17S610;D1S1423;D8S2278;D8S2279;DXS1680;DXS9743;GDB:434012;RH46225;RH68558;SHGC-32313;SHGC-32393;SHGC-33275;WI-11090;sY3084 DCBALD06;ENOX;LINC00183;NCRNA00183 APPROVED ncrna ENSG00000225470 HGNC:37191 300832 VALIDATED 1318763 JPH1 junctophilin 1 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008] 8 8 8 q21 71144786 71231414 - 75146935 75233721 - 74234700 74321486 - 1580863;6480464;8554872 10891348;10949023;12135771;12477932;12777839;15146197;16421571;17081983;18029348;19095005;19322201;20308539;20360068;20379614;21890473;22020936;23148318;24816145 56704 E5RHU9;Q7Z682;Q86VR1;Q9HDC5 AB042635;ABBA01041979;AC087792;AF110324;AMYH02018234;BC017980;BC049372;BC098299;BC098314;BC099736;BC113856;BC114464;BC139832;BC140875;BC140876;BX537756;CH471068;CN272069;CR627477;NM_020647;XM_005251273;XM_005251274;XM_005251275 AAH49372;AAH98299;AAI13857;AAI14465;AAI39833;AAI40876;AAI40877;BAB11986;CAD97825;CAH10677;EAW87026;EAW87027;EAW87028;EAW87029;EAW87030;EAW87031;NP_065698;Q9HDC5;XP_005251330;XP_005251331;XP_005251332 Hs.657367 1338960;1715245;1735764;1778796;2133140;7184011 D8S1372E;D8S1639;D8S551;RH119873;RH45244 DKFZp762L0313;JP-1;JP1 OTTHUMP00000226895;junctophilin type 1;junctophilin type1;junctophilin-1;mitsugumin72 APPROVED protein-coding ENSG00000104369 HGNC:14201 07286 605266 REVIEWED 1603907 JMY junction mediating and regulatory protein, p53 cofactor ENCODES a protein that exhibits transcription coactivator activity (ortholog); INVOLVED IN 'de novo' actin filament nucleation (ortholog); actin polymerization-dependent cell motility (ortholog); Arp2/3 complex-mediated actin nucleation (ortholog); FOUND IN cell leading edge; nucleus (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 5 5 5 q14.1 74431728 74522800 + 78531925 78623038 + 79236102 79327215 + 6480464 10518217;12477932;14702039;15146197;15706352;16344560;17170761;18398821;19287377;19897726;21625218;21965285;22262458;23758122;24069348;24250222;24816145;8889548 133746 Q8N9B5 ABBA01062009;ABBA01062010;ABBA01062011;ABBA01062012;AC016559;AC020898;AK092475;AK095189;AL708168;AMYH02011642;BC130624;BM668734;BX648048;BX648731;CH471084;CN372786;DA435238;DB313348;DW425980;NM_152405;XM_005248430;XM_006714530 AAI30625;BAC04495;EAW95834;NP_689618;Q8N9B5;XP_005248487;XP_006714593 Hs.482605 1644375;1651439;1699904;2219840 JMY__6491;RH103560;RH46880;WI-22612 FLJ37870;MGC163496;WHDC1L3 OTTHUMP00000161976;WAS protein homology region 2 domain containing 1-like 3;junction-mediating and -regulatory protein;junction-mediating and regulatory protein protein-coding ENSG00000152409 HGNC:28916 05045 604279 VALIDATED 1318170 JPH3 junctophilin 3 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012] 16 16 16 q24.3 71933529 72028806 + 87635441 87731762 + 87601835 87698156 + 1580863;6480426;6480464;7240710;8699517;8554872 18077435 10891348;10949023;11145944;11329013;11694876;11914418;12477932;12805114;14702039;15489334;15527767;15876586;16858508;17353931;17708569;18651325;18816802;19095005;19724895;19851296;20198315;20301334;20301701;20379614;21555070;21697133;22321011;22367996;22447335;24322204;9225980 57338 B4DIC1;F8W9A3;Q8WXH2;Q96HD8 AA813196;AB042636;AB042640;AB593088;ABBA01006913;ABBA01006914;ABBA01006915;AC010536;AC092720;AF429315;AI299726;AK055486;AK126663;AK295518;AK297215;AMYH02032618;AMYH02032619;AW954561;BC008690;BC036533;BG205692;BI553267;BQ014355;CH471114;NG_009797;NM_001271604;NM_001271605;NM_020655;NR_073379;XM_006721237 AAH08690;AAH36533;AAL40941;ABM84495;ABM85346;BAB11983;BAB11987;BAG51525;BAG58433;BAG59698;BAJ84028;EAW95386;EAW95387;NP_001258533;NP_001258534;NP_065706;Q8WXH2;XP_006721300 Hs.592068;Hs.733790 1336182;1729558;1766835;1783356;2110469;2178507;2179799 D16S305;D16S3123;JPH3__6493;RH66295;SHGC-145946;SHGC-152224;SHGC-60765 CAGL237;FLJ44707;HDL2;JP-3;JP3;TNRC22 OTTHUMP00000175011;junctophilin type 3;junctophilin-3;trinucleotide repeat containing 22;trinucleotide repeat-containing gene 22 protein APPROVED protein-coding ENSG00000154118 HGNC:14203 05589 605268;606438 REVIEWED 6480857 JRKL-AS1 JRKL antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 11 11 96176445 96240040 - 96443281 96506876 - 8554872 100874053 ABBA01040005;ABBA01040006;AMYH02025396;AMYH02025397;AP003781;BE972282;HG504121;NR_047481 Hs.742044 RP11-49K4.1 APPROVED ncrna HGNC:43670 VALIDATED 1319078 JRKL JRK-like The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] 11 11 11 q21 93423358 93426927 + 96123158 96126727 + 96389994 96393563 + 1580863;6480464 12477932;16344560;22648509;23128233;8889548;9240447 8690 Q9Y4A0 ABBA01040006;AC018702;AF004715;AK290579;AK314216;AMYH02025392;AP003781;BC031306;BC109202;CA503357;CH471065;DB030091;DB084056;NM_001261833;NM_003772 AAB65833;AAI09203;BAF83268;BAG36890;EAW66986;NP_001248762;NP_003763;Q9Y4A0 Hs.105940;Hs.745352 5493031 UniSTS:483873 HHMJG;MGC129608 OTTHUMP00000207000;erky homolog-like;human homolog of mouse jerky gene protein;jerky protein homolog-like APPROVED protein-coding ENSG00000183340 HGNC:6200 04443 603211 REVIEWED 1603184 JSRP1 junctional sarcoplasmic reticulum protein 1 The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012] 19 19 19 p13.3 2186426 2190598 - 2252250 2256422 - 2252251 2256423 - 6480464 12477932;12871958;14702039;16344560;16423849;20442750;21044950;22927026 126306 K7EKG1;Q96MG2 ABBA01002714;AC005263;AC138127;AK056978;AMYH02035186;AW137573;BC021201;CH471139;DA897543;DA898560;NG_032853;NM_144616 AAH21201;ACE86420;ACE87095;BAB71330;EAW69396;NP_653217;Q96MG2 Hs.330742 2131407 RH71348 FLJ32416;JP-45;JP45 2310032K21Rik;homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45;junctional-face membrane protein of 45 kDa homolog;skeletal muscle sarcoplasmic reticulum protein JP-45 APPROVED protein-coding ENSG00000167476 HGNC:24963 08724 608743 REVIEWED 1315305 JPH4 junctophilin 4 This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 14 14 14 q11 3899912 3910677 - 24037244 24048009 - 23568035 23578800 - 1580863;6480464;8554872 11347906;12477932;14559359;14702039;15489334;16344560;19095005;24250222 84502 F5H1L9;Q96JJ6 AB058734;ABBA01061322;AK055345;AK091572;AK290511;AK304514;AL135999;AL834411;AMYH02028870;AY344068;BC055429;BC109228;CH471078;DA108605;NM_001146028;NM_032452 AAH55429;AAS47836;BAB47460;BAB70905;BAF83200;BAH14203;CAD39073;EAW66135;EAW66139;NP_001139500;NP_115828;Q96JJ6 Hs.597841 1651525;1776936;2160768;7186288 D14S104E;RH15730;STS-AA004314 FLJ34253;JP-4;JP4;JPHL1;KIAA1831 OTTHUMP00000027957;OTTHUMP00000246281;junctophilin like 1;junctophilin-4;junctophilin-like 1 protein APPROVED protein-coding ENSG00000092051 HGNC:20156 17170 REVIEWED 1314867 JRK Jrk homolog (mouse) This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 8 8 8 q24.3 140050845 140059905 - 143738874 143751412 - 142657460 142669994 - 1580863;6480464 10510981;11463517;12477932;14702039;16344560;20379614;22505724;23824909;9675132 8629 D3DWI5;O75564;Q86XJ5 AB209002;ABBA01005290;AC108002;AC145123;AF072467;AF072468;AF072469;AK024145;AK024975;AK025687;AK127631;AMYH02018926;BC024297;BC030566;BC036794;BC043351;BC071862;BX640755;CH471162;DB083591;NG_012215;NM_001077527;NM_001279352;NM_003724;XM_006716677;XM_006716678;XM_006716679 AAC32352;AAC32353;AAC32354;AAH43351;BAC87064;BAD92239;CAE45862;EAW82315;EAW82316;EAW82317;NP_001070995;NP_001266281;NP_003715;O75564;XP_006716740;XP_006716741;XP_006716742 Hs.535903;Hs.683465 1336478;1339060;1774423;2110471;2182113 D8S1751;D8S1836;JRK__6494;STS-F01571;STS-T03654 DKFZp686C24207;FLJ45729;JH8 jerky;jerky homolog;jerky protein homolog APPROVED protein-coding ENSG00000234616 HGNC:6199 04442 603210 REVIEWED 6481083 JTBP1 jumping translocation breakpoint pseudogene 1 22 22 41194043 41194289 + 40798039 40798285 + 100874254 ABBA01055609;AMYH02038419;NG_032231;Z98048 pseudo HGNC:39180 INFERRED 1313081 JPH2 junctophilin 2 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 39448942 39524817 - 42740337 42816218 - 44111697 44187578 - 1580652;1580863;6480270;6480464;8699517;7240710;8554872 15541368;20576937 10891348;10949023;11780052;12477932;14702039;15782160;17081983;17476457;17509612;19095005;20095964;20379614;21216834;21339484;22020936;22389502;23148318;24001019;24519927 57158 Q86VZ3;Q9BR39 ABBA01052633;ABBA01052634;AK098288;AK098303;AK304863;AL034419;AL035447;AL132999;AMYH02037123;AMYH02037124;AMYH02037125;AW014086;BC029957;BC043206;CH471077;NG_031867;NM_020433;NM_175913;XM_006723832;XM_006723833 AAH43206;AAI72751;BAG65601;CAB61347;EAW75940;EAW75941;EAW75942;EAW75943;NP_065166;NP_787109;Q9BR39;XP_006723895;XP_006723896 Hs.441737 CMH17;FLJ40969;JP-2;JP2 OTTHUMP00000031651;OTTHUMP00000031652;junctophilin type 2;junctophilin-2 APPROVED protein-coding ENSG00000149596 HGNC:14202 12006 605267;613873 REVIEWED 736325 JTB jumping translocation breakpoint ENCODES a protein that exhibits protein kinase binding; INVOLVED IN mitotic nuclear division; positive regulation of protein kinase activity; FOUND IN centrosome; cytoplasm; midbody; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; atrazine; copper(2+) sulfate 1 1 1 q21 127018496 127022202 - 153946745 153951096 - 153974269 153977975 - 69865;1580863;6480464 10321732 10762645;11042152;12477932;12586295;12897160;15489334;18029348;19487072;21225229;21832049;21900206;21963094;21988832;22079049;22615844;23297497;8619474;9110174 10899 O76095 AB016488;AB016492;AB016493;ABBA01049460;AF115850;AF131797;AF151056;AK312106;AL358472;AMYH02001912;BC000499;BC000996;BC001363;BC001667;BC004239;BC019277;BM907938;BT007285;BU527541;CH471121;CR456985;NM_006694 AAD09822;AAD20045;AAF36142;AAH00499;AAH00996;AAH01363;AAH01667;AAH04239;AAH19277;AAP35949;BAA33731;BAA33735;BAA33736;BAG35042;CAG33266;EAW53242;NP_006685;O76095 Hs.6396 1654988;1688306;2141947;2164402;2218434 A004O27;CREB3L4_4636;RH11825;RH63845;RH67852 HJTB;HSPC222;PAR;hJT OTTHUMP00000034759;jumping translocation breakpoint protein;prostate androgen-regulated protein protein-coding ENSG00000143543 HGNC:6201 05240 604671 VALIDATED 1351606 JTK5A JTK5A protein tyrosine kinase 3723 HGNC:6202 1344537 JTK5B JTK5B protein tyrosine kinase 3724 HGNC:6203 737195 JUNB jun B proto-oncogene ENCODES a protein that exhibits DNA binding (inferred); double-stranded DNA binding (inferred); RNA polymerase II regulatory region sequence-specific DNA binding (inferred); INVOLVED IN cellular response to calcium ion (inferred); cellular response to hormone stimulus (inferred); decidualization (inferred); PARTICIPATES IN interleukin-6 signaling pathway; ASSOCIATED WITH Kidney Neoplasms (ortholog); Tongue Neoplasms (ortholog); FOUND IN nucleus; INTERACTS WITH (-)-citrinin; (S)-nicotine; 17beta-estradiol 19 19 19 p13.2 12792018 12793833 + 12902310 12904125 + 12791496 12793311 + 1580863;2293758;2293780;6480464;6484113 14674993;9405228 10220381;10764760;10777209;10903323;11036094;11053448;11477071;11726656;12080089;12145210;12165517;12371906;12393503;12477932;12506033;12522006;12592382;12907453;12907627;1406655;14499865;14673171;15025563;15231748;15240010;15302935;15308641;15489334;15507668;15867431;16189514;1633872;16511568;16552541;16880520;17081983;17204476;17306025;17495958;17510411;17601350;17681951;17690253;17965727;18029348;18042260;18259752;18391017;18424718;18628455;18843287;18977241;1899335;19064921;19151755;19321746;19409613;19471022;19666408;19923172;20006998;20030915;20056077;20132737;20195357;20200942;2112242;21225234;21289643;21326808;21393445;21423810;21693764;21822216;21906983;21937452;21963094;21988832;22020339;22082156;22242598;22252121;22328780;22710716;23000965;23259178;23297064;23308222;23661758;23749999;24107296;24136993;24200694;24858691;25117710;2513129;8125298;8432525;8530030;8570175;8649827;8654373;8917518;8945519;8954125;9128241;9154808;9405416;9872330;9889198 3726 P17275;Q5U079 ABBA01029773;AC018761;AK222532;AK313737;AMYH02035557;AY751746;BC004250;BC009465;BC009466;BT019760;CH471106;M29039;NM_002229;U20734;X51345 AAA59198;AAA74915;AAH04250;AAH09465;AAH09466;AAU43800;AAV38565;ABM83947;ABM87265;BAD96252;BAG36478;CAA35738;EAW84307;NP_002220;P17275 Hs.25292 1770924;1793016;5092622 A005B41;G32220;PMC186344P1 AP-1 activator protein 1;transcription factor jun-B protein-coding ENSG00000171223 HGNC:6205 01303 165161 VALIDATED 1342755 K12T K12 temperature sensitivity complementing 455493 3729 HGNC:6209 1350651 KAL2 Kallmann syndrome 2 (autosomal dominant) ASSOCIATED WITH Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (inferred); Jackson-Weiss syndrome (inferred); Kallmann Syndrome (inferred) 7240710 3731 HGNC:6212 101600;123150;147950;166250;190440;615465 1352931 KALP Kallmann syndrome sequence pseudogene X Y Y q11 2963470 2963653 + 15863536 16031902 + 13751656 13920022 + 12815422;1303285;9847074 3734 Q9UDP4 ABBA01065466;ABBA01065467;ABBA01065468;ABBA01065469;ABBA01065470;ABBA01065471;ABBA01065472;ABBA01065473;ABBA01065474;ABBA01065475;ABBA01065476;ABBA01065477;ABBA01065478;ABBA01065479;ABBA01065480;AC006370;AC006371;NG_001153;X68743 AAD54510 1752997;2177758;5018015 KALP-5;SHGC-78698;SY182 KAL-Y ADMLY pseudo HGNC:6214 INFERRED 735346 JUND jun D proto-oncogene The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. This protein has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternative translation initiation site usage results in the production of different isoforms (PMID:12105216). [provided by RefSeq, Nov 2013] 19 19 19 p13.2 18292287 18294173 - 18390563 18392432 - 18279694 18281656 - 1580863;2293758;6480464;6484113;6907045 9405228 10220381;10500243;10523647;10713367;10934195;10942775;11221882;11431474;11477071;11903046;12032852;12052834;12052862;12054733;12080089;12082101;12105216;12165517;12193410;12226747;12477932;12615916;12727841;14559791;14676207;15044019;15302935;15507668;15563473;15688015;15706351;15867431;16007120;16129800;16264271;16423552;16651450;17081983;17204476;17205062;17495958;17510411;17577209;17651017;17681951;18071306;18078517;18095154;18321953;18386285;18443593;18454173;18562690;18671972;18952102;1899335;1903194;19166930;19211927;19322201;19470832;19471022;20195357;2112242;21145461;21315773;21393445;21473742;21559334;21693764;21734453;21906983;21937452;22327296;22493372;22696638;23000965;23289756;23376981;23382074;23667531;23942796;24038602;24140207;24658685;7848298;8125298;8152431;8432525;8570175;8654373;8837781;8889548;8945519;9154808;9739985;9872330;9989505 3727 P17535;U3KPR5 ABBA01051255;ABBA01051256;ABBA01051257;AC008397;AK223630;AMYH02035730;AW027337;BQ130444;CA502969;CB050506;CH471106;EF044249;HY026893;NM_001286968;NM_005354;X51346;X56681 AAI69272;AAI69273;AAI69274;ABJ53425;BAD97350;CAA35739;CAA40010;EAW84684;NP_001273897;NP_005345;P17535 Hs.2780 1792618;1793064;2147558;5017805 G15878;JUND;PMC155158P1;PMC193924P4 AP-1 JunD-FL isoform;activator protein 1;transcription factor jun-D APPROVED protein-coding ENSG00000130522 HGNC:6206 01304 165162 REVIEWED 1350490 KAL1 Kallmann syndrome 1 sequence Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008] X X X p22.32 12674609 12877889 - 8496915 8700227 - 8528874 8732186 - 1580863;6480464;7240710;8554872;8699517 10591208;11297579;11463336;12050219;12477932;12627230;1302031;1303284;15001591;15004876;15146197;15324302;15471890;15548653;15605412;15636431;15949815;16876430;17054399;17213338;17223984;17603054;18160472;18463157;18682503;18723471;1913827;1922361;19696444;19734936;1977309;19844165;20219326;20301509;20362962;20530987;20734064;21351529;21497178;21682876;21717404;22016523;22801565;22939629;23189990;23357298;23410897;23533228;23721716;24189182;24232061;7590336;8504298;8832397;8842728;8989261;9589672;9713559 3730 P23352 ABBA01070639;ABBA01070640;ABBA01070641;ABBA01070642;ABBA01070643;ABBA01070644;ABBA01070645;ABBA01070646;ABBA01070647;ABBA01070648;ABBA01070649;ABBA01070650;ABBA01070651;ABBA01070652;ABBA01070653;ABBA01070654;ABBA01070655;ABBA01070656;ABBA01070657;ABBA01070658;ABBA01070659;ABBA01070660;ABBA01070661;AC005184;AC006062;AC096511;AI582702;AMYH02038820;BC137426;BC137427;CH471074;CN417843;M97252;NG_007088;NM_000216;S60085;S60088;X60299;X82034;XM_005274501 AAA59202;AAB20108;AAI37427;AAI37428;CAA42841;CAA57554;EAW98759;NP_000207;P23352;XP_005274558 Hs.521869 1679475;1702062;1702666;1728907;1730471;1730473;1745861;1745863;1787394;1796152;2144374;2166196;2167211;2188357;2188377;5022859;5022953;5115960;5115964;5116018;5116020 DXS1090;DXS1091;DXS7053;DXS7714;G42691;G66217;G66228;GDB:293971;GDB:293973;GDB:679268;GDB:679271;KAL1_177;KALP-6;RH38682;SHGC-12678;SHGC-172120;sY1758;sY1759;sY1762;sY1889;sY1890 ADMLX;HH1;HHA;KAL;KALIG-1;KMS;WFDC19 Kallmann syndrome interval gene 1;Kallmann syndrome-1 sequence (anosmin-1);OTTHUMP00000022873;WAP four-disulfide core domain 19;adhesion molecule-like X-linked;anosmin-1;kallmann syndrome protein APPROVED protein-coding ENSG00000011201 HGNC:6211 02393 300836;308700 REVIEWED 1343715 KAL3 Kallmann syndrome 3 (autosomal dominant) 3733 HGNC:6213 1350579 KAAG1 kidney associated antigen 1 6 6 6 p22.1 25590506 25591887 + 24357131 24358512 + 24356903 24358284 + 1580863 10601354;12477932;14574404;15489334 353219 Q9UBP8 ABBA01066533;AF181720;AF181722;AL359713;AMYH02013324;BC119739;BC119740;NG_012829;NM_181337 AAF23611;AAF23613;AAI52887;NP_851854;Q9UBP8 Hs.697888 1792856 PMC166143P13 MGC78738;RU2AS OTTHUMP00000016084;RU2 antisense gene protein;kidney-associated antigen 1 protein-coding ENSG00000146049 HGNC:21031 09741 608211 VALIDATED 732396 JUP junction plakoglobin This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008] 17 17 17 q21 36562207 36594276 - 39910859 39942964 - 41754607 41786712 - 1600286;1580863;2291873;2291872;2291883;2291890;2291864;2291880;2291866;2291876;2291882;2301235;2301748;2301746;2301747;2301745;2289818;2291881;6480464;6484113;6907045;7240710;8554872;8699517 10206308;10902626;11276001;11585741;11956097;12635138;14670177;15619205;15701841;15781623;16610682;17008277;17363521;17633921;7604000;9783980;9891472 10403777;10460003;10488109;10769205;10769211;10801826;10803460;10825188;10868478;10910767;10959047;11016852;11136974;11226248;11274246;11348595;11707392;11710948;11711551;11712088;11790773;11984022;12003790;12068170;12370829;12386812;12426320;12477932;12604612;12639940;12707304;12808048;12847106;12939402;14517306;14625392;14661054;14661058;14673151;14739224;15231748;15916880;15942628;15951569;16169070;16189514;16306047;16335966;1639850;16537559;16917092;17002498;17081983;17353931;17924338;17998942;18245958;18469796;18568994;18781797;18837082;1889810;18937352;19056867;19060904;19348003;19584275;19615732;19805454;19815544;20020773;20031617;20101217;20130592;20301310;20400443;20525856;20529814;20529828;20737155;20859650;20864495;20933443;20936779;21059263;21075858;21139048;21145461;21158719;21182205;21319273;21781455;21859801;21906983;21963094;21987572;21988832;22046445;22098624;22276604;22315228;22365833;22454524;22496452;22521077;22797925;22858986;22860065;22863883;22939629;22952844;23110151;23178689;23233089;23326490;23398456;23555187;23583905;23602568;23687381;23688911;23690540;23718855;23806441;24260116;24294380;24441103;24457449;24457600;24550385;24583282;24722188;25027693;2726765;7542250;7650039;7651399;7702605;7738346;7806582;7876318;7890674;7971964;7983064;8074697;8207061;8314871;8576101;8663237;8743961;8749329;9110993;9139698;9168809;9245795;9298899;9348293;9434630;9443898;9535896;9606214;9739078;9762469 3728 C9J826;C9JK18;C9JKY1;C9JPI2;C9JTX4;F5GWP8;K7ERP3;P14923 ABBA01006451;ABBA01006452;AC109319;AF233882;AF306723;AJ249711;AK226051;AMYH02033412;AY243535;BC000441;BC011865;CH471152;CS673474;CS690857;D50808;FB665610;GM706822;M23410;NG_009090;NM_002230;NM_021991;XM_005257313;XM_006721871;XM_006721872;XM_006721873;XM_006721874;XM_006721875;XM_006721876;XM_006721877;XM_006721878;Z68228 AAA64895;AAG16727;AAH00441;AAH11865;AAO85780;ABM82346;ABM85520;BAA09435;CAA92522;CAC04246;CAP07504;CAP11472;CAR97086;CAT82323;EAW60762;EAW60763;EAW60764;EAW60765;NP_002221;NP_068831;P14923;XP_005257370;XP_006721934;XP_006721935;XP_006721936;XP_006721937;XP_006721938;XP_006721939;XP_006721940;XP_006721941 Hs.514174 1669852;1729033;2161765;2162593 G07167;Jup;RH17679;SHGC-30259 ARVD12;CTNNG;DP3;DPIII;PDGB;PKGB OTTHUMP00000164732;OTTHUMP00000164735;OTTHUMP00000164738;catenin (cadherin-associated protein), gamma (80kD);catenin (cadherin-associated protein), gamma 80kDa;catenin gamma;desmoplakin III;desmoplakin-3;gamma-catenin APPROVED protein-coding ENSG00000173801 HGNC:6207 01414 173325;601214;611528 REVIEWED 1601887 KALRN kalirin, RhoGEF kinase Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 3 3 3 q21.2 122221230 122847210 + 123813558 124440036 + 124033498 124726325 + 6480464;6484113;7240710;8554872 10023074;10518015;10737800;10777487;11181995;11756498;11891045;12376548;12477932;12546821;12787561;14623284;14702039;14742910;15272420;15489334;15950621;16344560;16620772;16713569;16964243;17043677;17357071;17640372;17851188;18199770;18839057;18936096;18953434;19056867;19706030;19807924;20080650;20107840;20379614;20604901;20730383;21041834;21078624;21664346;22120753;22139419;22194219;22404213;22429885;22458949;22720673;22889411;24324551;8889548;9139723;9285789 8997 C9IYX8;C9IZQ6;C9J1B4;E7EUZ8;H7BXZ5;H7C0I9;H7C1X7;J3QSW6;O60229 AB011422;ABBA01016433;ABBA01016434;ABBA01016435;ABBA01016436;ABBA01016437;ABBA01016438;ABBA01016439;ABBA01016440;ABBA01016441;ABBA01016442;ABBA01016443;ABBA01016444;AC022336;AC069233;AC080008;AC112129;AC117381;AC117401;AI024603;AK022394;AK096580;AK123068;AK125979;AK126954;AK128223;AK131379;AK296657;AK311154;AK311581;AK314126;AL137629;AMYH02007558;AMYH02007559;AMYH02007560;AMYH02007561;AMYH02007562;AMYH02007563;BC026865;BC037924;BC058015;BM930007;BQ345377;CB045666;CH471052;DA756158;DB450617;HG496003;KF457679;NG_012742;NM_001024660;NM_003947;NM_007064;NR_028136;U94190;XM_006713810;XM_006713811;XM_006713812;XM_006713813;XM_006713814;XM_006713815;XM_006713816;XM_006713817 AAC15791;AAH26865;AAH58015;AAI66705;BAA76314;BAC86373;BAD18530;BAG59254;CAB70850;EAW79410;EAW79414;EAW79415;EAW79416;EAW79417;EAW79418;EAW79419;EAW79420;EAW79421;EAW79422;EAW79423;NP_001019831;NP_003938;NP_008995;O60229;XP_006713873;XP_006713874;XP_006713875;XP_006713876;XP_006713877;XP_006713878;XP_006713879;XP_006713880 Hs.13281;Hs.8004 1335013;1336196;1336734;1339257;1341424;1666160;1701174;1707878;1708156;1721973;1724829;1728045;1751743;1752605;1756361;1758139;1759677;1762163;1770228;1853743;2115720;2128131;2163578;2183814;2187229;2219118;5016781;5019569;5021910;5037552;7186080 AU047679;D3S1269;D3S1765;D3S2322;D3S2460;D3S3384;D3S3646;D3S4197;D8S2279;G16605;G31014;G59872;G63293;HAPIP__6692;RH104215;RH123675;SHGC-105715;SHGC-106416;SHGC-143337;SHGC-146054;SHGC-147506;SHGC-151006;SHGC-67307;SHGC-77292;SHGC-77293;SHGC-79325;SHGC-82179;STS-R40615;WIAF-2074;ha2793 ARHGEF24;CHD5;CHDS5;DUET;DUO;FLJ12332;FLJ16443;FLJ18196;FLJ18623;RP11-71H17.7;TRAD HAPIP;OTTHUMP00000155215;OTTHUMP00000165774;OTTHUMP00000165775;OTTHUMP00000215857;huntingtin-associated protein interacting protein (duo);kalirin;serine/threonine kinase with Dbl- and pleckstrin homology domains;serine/threonine-protein kinase with Dbl- and pleckstrin homology domain APPROVED protein-coding ENSG00000160145 HGNC:4814 06859;12169 604605;608901 REVIEWED 1603552 KANK4 KN motif and ankyrin repeat domains 4 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; aflatoxin B1 1 1 1 p31.3 60990829 61074105 - 62701837 62785083 - 62236165 62319412 - 6480464;8554872 12477932;14702039;15489334;16710414;17996375;19554261;20972266 163782 B1ALP5;B1ALP6;Q5T7N3 AB284127;ABBA01074603;ABBA01074604;ABBA01074605;AK091941;AK096259;AK127461;AL139343;AL162739;AL832644;AMYH02001140;BC033147;BC041418;BC060866;CH471059;KF510729;NM_181712 AAH41418;AAH60866;BAC03774;BAC04741;BAG06866;BAG54508;CAD89966;EAX06587;EAX06588;EAX06589;NP_859063;Q5T7N3 Hs.283398 1715637;1857059;2167281 AL009732;RH119263;SHGC-74926 ANKRD38;FLJ10884;KIAA0172;RP5-1155K23.5;dJ1078M7.1 KN motif and ankyrin repeat domain-containing protein 4;OTTHUMP00000010526;OTTHUMP00000010527;OTTHUMP00000010528;ankyrin repeat domain 38;ankyrin repeat domain-containing protein 38;kidney ankyrin repeat-containing protein 4 protein-coding ENSG00000132854 HGNC:27263 14109 614612 VALIDATED 1602171 KANK3 KN motif and ankyrin repeat domains 3 INTERACTS WITH aflatoxin B1; valproic acid; 17alpha-ethynylestradiol (ortholog) 19 19 19 p13.2 8243994 8264638 - 8387468 8408146 - 8322584 8343262 - 6480464 12477932;14702039;15489334;17996375;19554261;24250222;8619474;9110174 256949 M0QZJ3;Q6NY19 AB284126;ABBA01010850;ABBA01010851;ABBA01010852;AC010323;AK128815;AMYH02035438;AMYH02035439;AY203940;BC035849;BC066124;BC066775;CH471139;NM_198471;XM_005272467;XM_006722718 AAH35849;AAH66124;AAH66775;AAP34463;BAC87620;BAG06865;EAW68932;NP_940873;Q6NY19;XP_005272524;XP_006722781 Hs.745036 1669246;1739529;1762785;1772769;1849595;2165238 D19S816;RH78597;RP_S28_1;SGC30650;SHGC-146566;WI-17737 ANKRD47;FLJ46061 KN motif and ankyrin repeat domain-containing protein 3;ankyrin repeat domain 47;ankyrin repeat domain-containing protein 47;kidney ankyrin repeat-containing protein 3 protein-coding ENSG00000186994 HGNC:24796 13520 614611 VALIDATED 1605247 KANSL1 KAT8 regulatory NSL complex subunit 1 This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012] 17 17 17 q21.31 40754596 40917505 - 44107282 44302740 - 46029916 46225374 - 6480464;8699517;8554872 10574462;11076863;11230166;11256614;11641718;12477932;14702039;15231748;15302935;15489334;15489336;15960975;16189514;16227571;16344560;16381901;16543150;17043677;17694080;18029348;18509094;19854137;20018852;20301783;20360068;20837706;20936779;21217699;21502505;21906983;22504418;22544363;22544367;22939629;23455924;24250222;24429156 284058 I3L233;I3L243;I3L4J3;Q7Z3B3 AB033093;ABBA01031198;ABBA01031199;ABBA01031200;ABBA01031201;ABBA01031202;ABBA01031203;ABBA01031204;ABBA01031205;ABBA01031206;ABBA01031207;ABBA01031208;ABBA01031209;AC004139;AC005829;AC127032;AC217772;AC217773;AC217779;AC243658;AC243899;AI253068;AK094946;AK291259;AL117476;AL137317;AX405678;BC035892;BC098376;BX538006;BX648760;CH471233;CR936218;DA010621;KF495991;NG_032784;NM_001193465;NM_001193466;NM_015443;XM_005257232;XM_005257233;XM_005257234;XM_005257235;XM_005275644;XM_005275645;XM_006721823;XM_006721824;XM_006721825;XM_006721826;XM_006725263;XM_006725264 AAH35892;AAH98376;BAA86581;BAF83948;BAG52961;CAB55949;CAB70694;CAD34785;CAD97958;CAH10565;CAL37692;CAL38562;EAW93576;EAW93577;NP_001180394;NP_001180395;NP_056258;Q7Z3B3;XP_005257289;XP_005257290;XP_005257291;XP_005257292;XP_005275701;XP_005275702;XP_006721886;XP_006721887;XP_006721888;XP_006721889;XP_006725326;XP_006725327 Hs.648744 1659170;1670964;1687415;1688672;1713447;1721445;1752635;1773497;2125279;2126418;2139585;2155955;2174502;2183329;5015619 D11S3114;G17974;G59574;L18229;RH119581;RH45582;RH48560;RH91855;RH93550;SHGC-106446;SHGC-33952;SHGC-57555;SHGC-63641;STS-AA028958;WI-16100 CENP-36;DKFZp686P06109;DKFZp727C091;KDVS;KIAA1267;MGC102843;MSL1v1;NSL1;hMSL1v1 MLL1/MLL complex subunit KANSL1;MLL1/MLL complex subunit KIAA1267;MSL1 homolog 1;NSL complex protein NSL1;centromere protein 36;hypothetical protein LOC284058;male-specific lethal 1 homolog;non-specific lethal 1 homolog APPROVED protein-coding ENSG00000120071 HGNC:24565 11254 610443;612452 REVIEWED 1317065 KANK1 KN motif and ankyrin repeat domains 1 The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseuodgene has been identified on chromosome 20. [provided by RefSeq, Mar 2012] 9 9 9 p24.3 421697 662617 + 470294 746106 + 470294 746106 + 2315654;6480464;7240710;8699517;8554872 12133830 12477932;15164053;15231748;15342556;15489334;15596059;15823577;16344560;16968744;17996375;18029348;18458160;19171758;19506219;19554261;19559006;19834503;20073072;20164854;20360068;20379614;21685469;22084092;22321011;22424883;22876580;22952844;23454270;23793025;24399197;8724849 23189 A8KAC4;Q14678;Q5W0W1;Q5W0W2;Q5W0W3;Q6PIB3 AB205106;AB205107;AB205108;AB205109;AB205110;AB205111;AB205112;AB205113;ABBA01065454;ABBA01065455;ABBA01065456;AK025428;AK025636;AK026421;AK290028;AK292989;AK311119;AL039663;AL136979;AL161725;AL392089;AL832454;AL833015;AL833161;AMYH02019024;AMYH02019025;AMYH02019026;AMYH02019027;AW296327;BC020040;BC037495;BC038116;BP287167;BX648931;CH471071;D79994;DA457624;NG_016331;NM_001256876;NM_001256877;NM_015158;NM_153186;XM_005251410;XM_005251411;XM_005251413;XM_005251414;XM_005251415;XM_005251416;XM_005251417;XM_005251418;XM_005251419;XM_006716743;XM_006716744;XM_006716745;XM_006716746;XM_006716747;XM_006716748 AAH20040;AAH37495;AAH38116;BAA11489;BAD97395;BAD97396;BAD97397;BAD97398;BAD97399;BAF82717;BAF85678;CAD90003;CAH56292;EAW58821;EAW58822;NP_001243805;NP_001243806;NP_055973;NP_694856;Q14678;XP_005251467;XP_005251468;XP_005251470;XP_005251471;XP_005251472;XP_005251473;XP_005251474;XP_005251475;XP_005251476;XP_006716806;XP_006716807;XP_006716808;XP_006716809;XP_006716810;XP_006716811 Hs.306764 1341653;1651529;1674900;1695466;1696476;1735726;1752689;1755529;1758737;1762489;1762695;1774619;1774964;1787140;2120068;2170671;5020946;5022200;5022450;5022578;5022588;5022651;5037552;5092916;5125275 A009C13;D10S275;D11S2921;D1S1423;D5S1597E;D8S1344E;D8S2279;D9S1858;G32411;HSC2FF032;L17971;L18426;RH118407;RH45283;RH48945;RH70155;SHGC-106538;SHGC-142384;SHGC-146309;SHGC-146489;SHGC-150818;SHGC-155656;SHGC-79801;STS-AA004761;WI-16217 ANKRD15;CPSQ2;DKFZp451G231;FLJ18161;KANK;KIAA0172;MGC43128 KN motif and ankyrin repeat domain-containing protein 1;OTTHUMP00000020957;OTTHUMP00000020959;OTTHUMP00000082438;OTTHUMP00000082439;ankyrin repeat domain 15;ankyrin repeat domain-containing protein 15;kidney ankyrin repeat-containing protein APPROVED protein-coding ENSG00000107104 HGNC:19309 09651 607704;612900 REVIEWED 1352192 KANK2 KN motif and ankyrin repeat domains 2 INVOLVED IN negative regulation of cell proliferation; negative regulation of G1/S transition of mitotic cell cycle; negative regulation of intracellular estrogen receptor signaling pathway; FOUND IN cytoplasm; mitochondrion; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; cadmium atom 19 19 19 p13.2 11169761 11203056 - 11274943 11308243 - 11164267 11197567 - 737633;6480464 12477932 10819331;12107410;14702039;15146197;15489334;16344560;17081983;17476305;17996375;19554261;19738201;20360068;21163940;21906983;22797925;22952844;23505323;24722188;24778252;8125298 25959 K7EIU4;K7EL48;K7ERU2;K7ES05;Q63ZY3 AB040951;AB284125;ABBA01029868;ABBA01029869;AC009000;AC011485;AK000011;AK002094;AK023332;AK225038;AL117489;AL701379;AMYH02035522;AMYH02035523;AMYH02035524;AY639929;BC019078;BC030030;BC032745;BC049201;BC082762;BC098105;BC098286;BC098312;BC105989;BQ007409;BQ631109;CA394858;CH471106;CN306249;CR457388;DA889034;DA991654;DB282630;NM_001136191;NM_015493 AAH82762;AAH98105;AAH98286;AAH98312;AAI05990;AAT57879;BAA90882;BAA92081;BAA96042;BAB14531;BAG06864;CAB55958;CAG33669;EAW84175;EAW84176;EAW84177;EAW84178;NP_001129663;NP_056308;Q63ZY3 Hs.284208;Hs.723365;Hs.744940 1847687;1914154;2160045;5014019;5015404;5015861;5015961;5017170;5020740;5021228;5022425;5022578;5024413;5037552;7185938 D10S16;D15S1477;D1S1423;D22S296;D5S2354;D8S2279;GDB:312794;L17705;L17809;L17877;L29953;REN27886;RH45741;STS-W84522 ANKRD25;DKFZp434N161;FLJ20004;KIAA1518;MGC119707;MXRA3;SIP KN motif and ankyrin repeat domain-containing protein 2;SRC-1 interacting protein;SRC-1-interacting protein;SRC-interacting protein;SRC1-interacting protein;ankyrin repeat domain 25;ankyrin repeat domain-containing protein 25;kidney ankyrin repeat-containing protein 2;matrix-remodeling-associated protein 3;matrix-remodelling associated 3 protein-coding ENSG00000197256 HGNC:29300 12463 614610 VALIDATED 7779000 KANTR KDM5C adjacent non-coding transcript X X p11.22 53123129 53152924 + 53094160 53099500 + 24381249 102723508 ABBA01056368;ABBA01056369;AL139396;AL591212;AL599773;AMYH02039459;BX353482;CF994433;EF565109;HG512540;HG512541;HG512542;HG512543;HG512544;HG512545;NR_110456;XR_426529;XR_430516;XR_433756 Hs.633244 LINC01155;Spasm APPROVED ncrna HGNC:49510 VALIDATED 5688525 KANSL1-AS1 KANSL1 antisense RNA 1 INTERACTS WITH valproic acid 17 17 17 q21.31 40918172 40921322 + 44270939 44274089 + 46193573 46196723 + 6480464 12477932;19915575;8889548 644246 Q8WW58 ABBA01031206;AC005829;AC127032;AC139677;AC217773;AC243658;AC243899;BC020847;BC066350;CK300829;NG_032784;NR_034172 AAH20847 Hs.644600 1687415;2126418;2155955 G17974;RH91855;SHGC-57555 APPROVED ncrna ENSG00000214401 HGNC:43740 VALIDATED 1606280 KANSL2 KAT8 regulatory NSL complex subunit 2 ENCODES a protein that exhibits histone acetyltransferase activity (H4-K16 specific); histone acetyltransferase activity (H4-K5 specific); histone acetyltransferase activity (H4-K8 specific); INVOLVED IN histone H4-K16 acetylation; histone H4-K5 acetylation; histone H4-K8 acetylation; FOUND IN histone acetyltransferase complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; cyclosporin A; elemental selenium 12 12 12 q13.11 47842978 47872021 - 49046994 49076035 - 48653211 48682252 - 6480464 12477932;14637001;14702039;15302935;15489334;16344560;16543150;17081983;17694080;20018852;20360068;21832049;21988832;8889548 54934 F8VP38;F8VRX7;F8VUX5;F8VX10;F8VXI8;H0YHH4;H0YHR2;H0YID1;H0YIQ8;Q9H9L4 ABBA01031482;AC079951;AK000443;AK022732;AK094528;AL834467;AMYH02026424;AMYH02026425;BC009746;BC013900;BG760446;BM672156;CH471111;DA278834;KF455646;NM_017822 AAH09746;AAH13900;BAA91169;BAB14211;CAD39126;EAW57991;EAW57992;EAW57993;EAW57994;EAW57995;EAW57996;NP_060292;Q9H9L4 Hs.505412 1740265;1777563 D3S1688;RH65757 C12orf41;FLJ12670;FLJ20436;NSL2 NSL complex protein NSL2;OTTHUMP00000243656;OTTHUMP00000243657;OTTHUMP00000243659;OTTHUMP00000243660;hypothetical protein LOC54934;non-specific lethal 2 homolog;uncharacterized protein C12orf41 APPROVED protein-coding ENSG00000139620 HGNC:26024 07907 615488 VALIDATED 734356 JUN jun proto-oncogene This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. [provided by RefSeq, Jul 2008] 1 1 1 p32-p31 57530296 57533618 - 59246463 59249785 - 58780791 58784113 - 1580863;1549443;2290482;2290481;2290480;2293758;2290478;2290479;2290484;4889994;4890001;2290593;4890002;4889999;6480464;6484113;6907045 10684716;10719210;15800680;16006965;16413376;16733206;17634427;18620825;19158123;19737230;21132399;9405228;9748134 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3725 P05412 ABBA01074656;AL136985;AMYH02001100;AY217548;BC002646;BC006175;BC009874;BC068522;BG831943;BI793062;BT019759;BU782554;CD370800;CH471059;CR541724;CR541752;CS542415;J04111;NM_002228 AAA59197;AAH06175;AAH09874;AAH68522;AAO22993;AAV38564;ABM87431;CAG46525;CAG46552;CAM91157;EAX06628;NP_002219;P05412 Hs.696684 1791870;1791930;1792470;1792558;1794786;1796150;2120470;2130040;2166674;2181300;5018907 D1S3319;D5Lev15;G15909;JUN_454;PMC129043P1;PMC133732P5;PMC151710P1;PMC153970P1;PMC55707P1;RH68404;RH68524 AP-1;AP1;c-Jun;p39 Jun activation domain binding protein;OTTHUMP00000010036;activator protein 1;enhancer-binding protein AP1;jun oncogene;proto-oncogene c-Jun;transcription factor AP-1;v-jun avian sarcoma virus 17 oncogene homolog;v-jun sarcoma virus 17 oncogene homolog APPROVED protein-coding ENSG00000177606 HGNC:6204 01302 165160 REVIEWED 1606446 KANSL1L KAT8 regulatory NSL complex subunit 1-like FOUND IN histone acetyltransferase complex (inferred); INTERACTS WITH cyclosporin A; formaldehyde; progesterone 2 2 2 q34 204653461 204804052 - 210885435 211036068 - 210020711 210171344 - 6480464 12107410;12477932;14702039;16227571;24250222;8889548 151050 A0AUZ9;H7BZ78;H7C1T2;H7C2S5 ABBA01062733;ABBA01062734;AC006994;AC007038;AI679696;AK056911;AK074441;AK124324;AK124963;AK308432;AL133053;AMYH02005678;AMYH02005679;AMYH02005680;AMYH02005681;BC032837;BC070141;BC090854;BC126155;BC143914;BM974116;BQ441909;BQ948513;CA393360;CH471063;NM_152519;XM_005246328;XM_005246329;XM_005246330;XM_005246332;XM_005246333;XM_005246334;XM_005246335;XM_006712319;XM_006712320 A0AUZ9;AAH32837;AAH70141;AAI26156;AAI43915;AAX93088;AAY14880;BAB71308;BAB85085;CAB61379;EAW70475;EAW70476;EAW70477;EAW70478;EAW70479;NP_689732;XP_005246385;XP_005246386;XP_005246387;XP_005246389;XP_005246390;XP_005246391;XP_005246392;XP_006712382;XP_006712383 Hs.282260;Hs.591638 1337451;1665271;1676041;1688544;1690654;1715137;1734914;1850829;2152178;2171093 D2S1686E;D2S254;RH119521;RH12115;RH18489;RH35957;RH79974;RH91925;RH92726;SHGC-33506 C2orf67;FLJ23861;MSL1v2 KAT8 regulatory NSL complex subunit 1-like protein;OTTHUMP00000206446;OTTHUMP00000206449;hypothetical protein LOC151050;male-specific lethal 1 homolog;uncharacterized protein C2orf67 APPROVED protein-coding ENSG00000144445 HGNC:26310 08679 613833 VALIDATED 4889280 KARSP1 lysyl-tRNA synthetase pseudogene 1 13 13 13 23557381 23559334 + 42499708 42501661 + 41925572 41927525 + 100419558 ABBA01021262;AL442203;AMYH02027926;NG_024918 2132534;2191023 MARC_13466-13467:1002299828:1;SHGC-61044 pseudo HGNC:39207 INFERRED 4889279 KARSP2 lysyl-tRNA synthetase pseudogene 2 13 13 13 94610726 94612344 + 113784736 113786354 + 113130422 113132040 + 100419560 ABBA01019861;AL137002;AMYH02028738;NG_024951 1806480;1808834;1809506;1809976;1895416;1895418;1895420;1895422;1895424;1895426;1895428;1895430;1895432;1895434;1895436;1895438;1895440;1895442;1895444;1895446;1895448 ECD04197;ECD05400;ECD05745;ECD05980;REN18493;REN18494;REN18495;REN18496;REN18497;REN18498;REN18499;REN18500;REN18501;REN18502;REN18503;REN18504;REN18505;REN18506;REN18507;REN18508;REN18509 pseudo HGNC:39208 INFERRED 1345099 KARS lysyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q23.1 59955969 59975930 - 75661622 75681585 - 75627724 75647687 - 1580863;6480464;7240710;8554872;8699517 10952987;11333884;11714285;11829477;12477932;12729910;12756246;12819782;12869526;15078180;15142377;15183344;15220430;15479637;15489334;15888436;16055448;16120388;16169070;16189514;16341674;1651330;16702215;17203973;17560997;17724017;18029348;18272479;18274552;18708237;18715867;18781797;18842718;18854154;19458171;19584093;19738201;19825046;19844255;19914238;20056178;20186120;20699648;20877624;20920668;21058683;21093454;21139048;21145461;21181198;21252943;21318276;21536907;21763493;21890473;21900206;21963094;21988832;21994608;22079093;22190034;22235746;22268729;22276994;22539966;22586326;22698876;22751010;22797925;22863883;22939629;23000965;23095741;23159739;23208549;23768514;23799079;23972532;24130170;24147044;24250222;24654937;24816145;25027693;7584044;8052601;8078941;8188258;8449960;8812440;9278442;9525626;9878398 3735 H3BMR9;H3BPV7;H3BQK5;H3BRC9;H3BSN6;H3BVA8;J3KRL2;Q15046 AA503390;ABBA01017057;AC025287;AF285758;AK126584;AK309168;AK315687;AMYH02032405;AMYH02032406;BC004132;BC013246;BM781594;CH471114;D31890;D32053;NG_028025;NM_001130089;NM_005548 AAG30114;AAH04132;ABM83227;ABM86426;BAA06688;BAA22084;BAC86604;EAW95619;EAW95620;EAW95621;EAW95622;EAW95623;EAW95624;NP_001123561;NP_005539;Q15046 Hs.3100 1648924;1700656;2124425;2132534;2191023 D16S2968;MARC_13466-13467:1002299828:1;RH103951;SHGC-61037;SHGC-61044 CMTRIB;DFNB89;KARS1;KARS2;KIAA0070;KRS;lysRS OTTHUMP00000174948;OTTHUMP00000174949;lysine tRNA ligase;lysine--tRNA ligase APPROVED protein-coding ENSG00000065427 HGNC:6215 03249 601421;613641;613916 REVIEWED 1316319 KAT2A K(lysine) acetyltransferase 2A KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009] 17 17 17 q21 36920167 36928419 - 40265129 40273382 - 42113111 42121393 - 1580863;6480464;6907045;9479074;8662965;8554872;9104959 20679336;21151613;23642229 10022868;10373431;10611234;10747963;11090279;11384967;11406595;11418595;11438666;11564863;11839798;11956210;11964378;12154097;12374802;12391296;12477932;12601814;12660246;12878208;12887892;14657027;14767476;15001660;15009097;15115762;15561718;15592455;15715965;15899866;15932940;16096645;16122695;16287840;16494529;16510874;17301242;17375202;17643375;17664281;17967894;18089809;18187620;18206972;18206973;18250150;18250157;18418385;18838386;18842595;18936164;19124466;19339690;19343071;19491097;19615732;19683498;19716452;19773423;19843541;20138641;20224553;20226045;20227660;20508642;20534441;20691906;20937768;20946988;21131905;21367571;21725360;21746879;21828133;21890473;21987584;21988832;22055187;22086303;22465951;22542455;22574209;22623781;23022381;23033487;23044487;23382074;23437046;23543735;23661605;23826228;23863879;23913178;24163370;24250222;24302725;24371122;24480624;24705139;7670491;8552087;8684459;8972232;9073520;9488450;9611240;9722949;9742083 2648 K7EPC4;K7ERS6;Q92830 ABBA01006436;AC105024;AF029777;AMYH02033425;BC032743;BC039907;BC105977;CH471152;DB497139;NM_021078;U57316;XM_006721817;XM_006721818 AAC39769;AAC50641;AAH32743;AAH39907;AAI05978;EAW60801;EAW60802;EAW60803;NP_066564;Q92830;XP_006721880;XP_006721881 Hs.463045 1650796;2109339;2180493;2220644;5019631;5491647 A005Q17;G32267;GCN5L2_3982;MARC_4611-4612:966894521:1;SHGC-31964;UniSTS:486977 GCN5;GCN5L2;MGC102791;PCAF-b;STAF97;hGCN5;hsGCN5 GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 2;General control of amino acid synthesis, yeast, homolog-like 2;OTTHUMP00000164769;general control of amino acid synthesis protein 5-like 2;histone acetyltransferase GCN5;histone acetyltransferase KAT2A;lysine acetyltransferase 2A APPROVED protein-coding ENSG00000108773 HGNC:4201 03807 602301 VALIDATED 1314209 KAT2B K(lysine) acetyltransferase 2B CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008] 3 3 3 p24 20022291 20136515 + 20081524 20195896 + 20040032 20154404 + 1580863;5147892;6480464;6484113;6907045;8662965;9586031;9104959 11306337;20679336;21151613;22199269 10022868;10025406;10207070;10318892;10365964;10373431;10545121;10567539;10619020;10747963;10753971;10766811;10777539;10777601;10779504;10811635;10852958;10891508;10944526;10958685;10966108;11046145;11058129;11118214;11163245;11250901;11304541;11404076;11463815;11486036;11509179;11509661;11547919;11564863;11568182;11581372;11607033;11689696;11741939;11748222;11818576;11830591;11864601;11931765;11937047;11956210;11994312;12015309;12032084;12068014;12082103;12101239;12154097;12297501;12374802;12391158;12419806;12435739;12477932;12486002;12501250;12601814;12660246;12758070;12813456;12815053;12878208;12887892;12888487;12917345;12937166;14500836;14581481;14614455;14645221;14657027;14661947;14747462;14752096;14767476;14769800;14980312;15005629;15009097;15023334;15044952;15123636;15153330;15171254;15183343;15273251;15286281;15350211;15454570;15482860;15489334;15509593;15572685;15604093;15611041;15616580;15647279;15719065;15834423;15987677;15992539;15994459;1602151;16035254;16046164;16050810;16055439;16060659;16096645;16122695;16135803;16146763;16285943;16322561;16332960;16362936;16415179;16537920;16543236;16613856;16630892;16678111;16696975;16728408;16829519;16838299;16878158;16904069;16917507;17141982;17158926;17168834;17189186;17226766;17293853;17301242;17317667;17444627;17468105;17475621;17602165;17611664;17643375;17707232;17726049;17882273;17884818;17908689;17964260;17977830;17982102;18089809;18247445;18250157;18400184;18443043;18497079;18504427;18574470;18586263;18599479;18660489;18663001;18669648;18697823;18710935;18782771;18834332;18838386;18950845;18957410;18987336;19015268;19056724;19084499;19158279;19176998;19188449;19223581;19249677;19276081;19303849;19351588;19407811;19470756;19483727;19525977;19526283;19589782;19716452;19773423;19812265;19950226;19961954;19996091;20107328;20213728;20224553;20227660;20363750;20364308;20379614;20484414;20530585;20589832;20604809;20651253;20663877;20663886;20870727;20889312;20935208;21060154;21062767;21079652;21108945;21148070;21209460;21413932;21444723;21447625;21489275;21775285;21987584;22055187;22100137;22174411;22219331;22335196;22384255;22547391;22709982;22713239;23001180;23044042;23095762;23441852;23591450;23595990;23643089;23667505;23670564;23714681;23826228;23981651;24009623;24013724;24037888;24098694;24112038;24129567;24376456;24423233;24529102;24739390;8684459;8945521;9223281;9267036;9296499;9346901;9445475;9659901;9674425;9687573;9710619;9722949;9733796;9742083;9744860;9809067;9824164;9880483;9885574;9891054;9892017 8850 Q92831 ABBA01025087;ABBA01025088;ABBA01025089;ABBA01025090;AC099057;AL832173;AMYH02006364;AMYH02006365;AMYH02006366;AMYH02006367;AMYH02006368;AMYH02006369;BC060823;BC070075;CH471055;CS330046;NM_003884;U57317;XM_005265528;XR_245162 AAC50890;AAH60823;AAH70075;CAL00151;EAW64305;EAW64306;NP_003875;Q92831;XP_005265585 Hs.533055 1684373;1706638;1707562;1749471;2120873;2151229 RH48918;RH91328;SHGC-111194;SHGC-76766;SHGC-82800;SHGC-84592 CAF;P;P/CAF;PCAF CREBBP-associated factor;OTTHUMP00000161047;histone acetylase PCAF;histone acetyltransferase KAT2B;histone acetyltransferase PCAF;lysine acetyltransferase 2B;p300/CBP-associated factor APPROVED protein-coding ENSG00000114166 HGNC:8638 06780 602303 REVIEWED 732354 KAT5 K(lysine) acetyltransferase 5 The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 11 11 11 q13 62806503 62814088 + 65479473 65487077 + 65711996 65719606 + 1580863;2316155;6480464;6484113;8661225;8662965;9586031;8661232;9495926;8554872;9104959 19450511;20679336;21151613;21502417;21533982;22199269;23532176 10096020;10362352;10364196;10393559;10486269;10720489;10966108;11111051;11262386;11275565;11416127;11441186;11509179;11591700;11839798;11927554;11994312;12032152;12036595;12150997;12154097;12464179;12468530;12477932;12551922;12737628;12776177;12801643;12888553;12963728;14699153;14701804;14966270;15005629;15016909;15017382;15042092;15044485;15121871;15196461;15310756;15331662;15383276;15474031;15489334;15502158;15572661;15572685;15591049;15647280;15829968;15985650;16001085;16141325;16169070;16189514;16223726;16287840;16341205;16344560;16387653;16455055;16469706;16501607;16601686;16603769;16698308;16705183;16835243;16844118;17110330;17126496;17189186;17308053;17360565;17368826;17406968;17418098;17551969;17573780;17636029;17704809;17709392;17728759;17827213;17851107;17967892;17980166;17996965;18003922;18029348;18087039;18096664;18218781;18239623;18263878;18264029;18280244;18285460;18397884;18406329;18414493;18451177;18458078;18485870;18499675;18577246;18625847;18985155;19048121;19114310;19150978;19169279;19176879;19308289;19716452;19783983;19800870;19819149;19846935;19895790;19909775;19938016;20070254;20100829;20159953;20224553;20332121;20351180;20383146;20507282;20542002;20796290;20946988;21045206;21157427;21273583;21320689;21320693;21463657;21574959;21658600;21668587;21699783;21704408;21781306;21832049;21900206;21906983;21936881;21963094;21988832;22018239;22071692;22081016;22084066;22094252;22100137;22110127;22159227;22249179;22354990;22379092;22391203;22398289;22467210;22539723;22573825;22586264;22673729;22902274;22939624;22939629;23044042;23046361;23056207;23178490;23238566;23297341;23555077;23576563;23609452;23624367;23677994;23685072;23708966;23775119;23777805;23857583;24097068;24294372;24427328;8125298;8607265;8889548;9388189 10524 E9PJI1;E9PMG8;E9PRL6;E9PRM3;E9PRS1;H0YEG3;H0YEP0;Q92993 AB209813;ABBA01024105;AK130717;AK225100;AK226002;AK304664;AK313297;AMYH02024962;AP001266;AY214165;BC000166;BC013211;BC064912;BC093032;BC117167;BC143290;BC143296;BG720537;BI463394;BU737532;CH471076;DA043042;DB003934;DB103287;NG_033057;NM_001206833;NM_006388;NM_182709;NM_182710;U40989;U67734;U74667;XM_006718421 AAB02683;AAB18236;AAD00163;AAH00166;AAH64912;AAH93032;AAI17168;AAI43297;AAO21130;ADR83372;BAD93050;BAG36104;BAG65439;EAW74427;EAW74428;EAW74429;EAW74430;EAW74431;EAW74432;NP_001193762;NP_006379;NP_874368;NP_874369;Q92993;XP_006718484 Hs.397010 1670455;1680052;1721733;2108159;2150232;2151675;2163941;2177784;5022578 D1S1423;G59731;HSC0AE062;HTATIP_7974;IB3011;RH18259;RH99016;STS-U40989;WI-17347 ESA1;HTATIP1;PLIP;TIP;TIP60;ZC2HC5;cPLA2 60 kDa Tat-interactive protein;HIV-1 Tat interacting protein, 60kDa;HIV-1 Tat interactive protein, 60kDa;HTATIP;K-acetyltransferase 5;OTTHUMP00000233811;OTTHUMP00000233812;OTTHUMP00000233813;OTTHUMP00000233848;Tat interacting protein, 60kDa;cPLA(2)-interacting protein;cPLA2 interacting protein;histone acetyltransferase HTATIP;histone acetyltransferase KAT5;hiv-1 tat interactive protein, 60 kd;lysine acetyltransferase 5 APPROVED protein-coding ENSG00000172977 HGNC:5275 03245 601409 REVIEWED 1353532 KAT6B K(lysine) acetyltransferase 6B The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 10 10 10 q22.2 69874402 70080888 + 76584685 76792380 + 74824927 75032622 + 6480464;8699517;7240710;8554872;9104959 21151613 10497217;11157802;11965546;12168954;12477932;15271374;15302935;15489334;15561718;16096645;16344560;16385451;16387653;16713569;17081983;17182677;17460191;17980037;18029348;18794358;20379614;21804188;21880731;21890473;22077973;22265014;22265017;22505724;22715153;22747683;23063713;23236640;23436491;24150941;24294372;24816145;9205841 23522 B2RWN8;Q8WYB5 AA416904;AB002381;ABBA01020267;ABBA01020268;ABBA01020269;ABBA01020270;ABBA01020271;ABBA01020272;ABBA01020273;ABBA01020274;ABBA01020275;AC018511;AC063962;AF113514;AF119230;AF119231;AF217500;AK074816;AL832065;AMYH02023357;AMYH02023358;AMYH02023359;AMYH02023360;BC014143;BC021128;BC048199;BC150270;BC150618;CH471083;DA488537;NG_032048;NM_001256468;NM_001256469;NM_012330;XM_005269664 AAF00095;AAF00099;AAF00100;AAH14143;AAH21128;AAH48199;AAI50271;AAI50619;AAL56647;BAA20837;CAH10408;EAW54557;EAW54558;EAW54559;NP_001243397;NP_001243398;NP_036462;Q8WYB5;XP_005269721 Hs.35758;Hs.599543;Hs.740873 1653309;1656226;1685940;2109543;2160278;5018925;5108775 AW534476;D2S2965;D3S1674;MYST4_3804;RH48046;RH92572;STS-N36096 DKFZp313G1618;FLJ90335;GTPTS;KIAA0383;MORF;MOZ2;MYST-4;MYST4;ZC2HC6B;qkf MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4;MOZ-related factor;MYST histone acetyltransferase (monocytic leukemia) 4;OTTHUMP00000019866;OTTHUMP00000019867;OTTHUMP00000019868;OTTHUMP00000019869;OTTHUMP00000019870;histone acetyltransferase KAT6B;histone acetyltransferase MORF;histone acetyltransferase MOZ2;histone acetyltransferase MYST4;monocytic leukemia zinc finger protein-related factor;querkopf APPROVED protein-coding ENSG00000156650 HGNC:17582 07065 603736;605880;606170 REVIEWED 1312590 KAT6A K(lysine) acetyltransferase 6A ENCODES a protein that exhibits acetyltransferase activity; DNA binding; histone acetyltransferase activity; INVOLVED IN cellular senescence; histone acetylation; histone H3 acetylation; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Liver Neoplasms, Experimental (ortholog); FOUND IN Golgi apparatus; MOZ/MORF histone acetyltransferase complex; nucleus; INTERACTS WITH benzene; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 8 8 8 p11 40736067 40858643 - 41786997 41909506 - 41929479 42051988 - 1580863;6480464;2312274;8554872;9104959 17083329;21151613 10824998;11313971;11742995;11965546;12477932;12676584;12771199;14702039;15331439;15342556;15657427;16096645;16344560;16387653;16613851;16702405;16713569;16916647;17081983;17182677;17296583;17697320;17805331;17925393;18469222;18528428;18754862;18794358;18818702;18854154;19001415;19322201;19690564;20581860;20800603;21880731;21890473;22713874;23022987;23063713;23347099;23431171;23994619;24150941;24258712;24816145;8782817;8849440;9558366 7994 A5PKX7;A5PLL3;C9JJY6;C9K0F9;Q92794 ABBA01021142;ABBA01021143;ABBA01021144;AC090571;AK027361;AK128323;AMYH02017884;AMYH02017885;AMYH02017886;AMYH02017887;BC018011;BC142659;BC142959;BP348860;CH471080;DA257528;DA442995;DA758316;NM_001099412;NM_001099413;NM_006766;U47742;XM_005273649 AAC50662;AAI42660;AAI42960;AAI72379;EAW63239;EAW63240;NP_001092882;NP_001092883;NP_006757;Q92794;XP_005273706 Hs.491577 1674612;1727829;1773440;1856787;2218788;5020635;5021960 D7S3207;G63180;MYST3_3901;Myst3;RH12816;RH16550;WI-15071 MGC167033;MOZ;MYST-3;MYST3;RUNXBP2;ZC2HC6A;ZNF220 MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3;MYST histone acetyltransferase (monocytic leukemia) 3;Monocytic leukemia zinc finger protein;OTTHUMP00000197392;OTTHUMP00000197394;OTTHUMP00000225722;histone acetyltransferase KAT6A;histone acetyltransferase MYST3;runt-related transcription factor binding protein 2;runt-related transcription factor-binding protein 2;zinc finger protein 220 APPROVED protein-coding ENSG00000083168 HGNC:13013 03244 601408 VALIDATED 4889169 KARSP3 lysyl-tRNA synthetase pseudogene 3 16 16 16 q22.1 52544798 52547369 - 68036326 68038354 - 68002423 68004451 - 100132079 ABBA01025469;ABBA01025470;AC040162;AMYH02032244;NG_028877 pseudo HGNC:39209 INFERRED 1604339 KANSL3 KAT8 regulatory NSL complex subunit 3 ENCODES a protein that exhibits histone acetyltransferase activity (H4-K16 specific); histone acetyltransferase activity (H4-K5 specific); histone acetyltransferase activity (H4-K8 specific); INVOLVED IN histone H4-K16 acetylation; histone H4-K5 acetylation; histone H4-K8 acetylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN histone acetyltransferase complex; intracellular membrane-bounded organelle; nucleolus; INTERACTS WITH all-trans-retinoic acid; valproic acid; C60 fullerene (ortholog) 2 2 2 q11.2 91700119 91745338 - 97258892 97304116 - 96593155 96638379 - 6480464;8554872 10718198;11076863;11230166;11256614;12477932;14702039;15302935;15342556;15489336;16169070;16344560;16381901;16543150;16712791;17694080;20018852;20360068 55683 C9J491;C9J5A4;C9JF16;F8WB58;F8WD76;F8WEN2;M0R3B6;Q9P2N6 AA526958;AB037731;ABBA01036587;AC079754;AF311326;AI824694;AK000943;AK023813;AK074379;AK091163;AK302646;AK304011;AK311617;AK314367;AL136849;AMYH02004335;AY050169;BC015469;BC024276;BC032746;BC051763;BC063792;BC127820;BP310677;BQ063147;CB123459;CH471207;DB133508;DB275425;DB276915;KF456684;NM_001115016;NR_047653;NR_047654;NR_047655;NR_047656;NR_047657;NR_047658;XM_005263980;XM_005263981;XM_005263982;XM_005263983;XM_005263984;XM_005263985;XM_005263986;XM_005263987;XM_005263988;XM_005263992;XM_006712629;XM_006712630;XM_006712631;XR_244892;XR_427101 AAG33852;AAH15469;AAH32746;AAH51763;AAH63792;AAI27821;AAL13159;AAX88890;BAA91437;BAA92548;BAB14688;BAG36997;BAG63887;BAG64926;CAB66783;CAL37956;CAL38587;EAW71347;EAW71348;EAW71349;EAW71350;EAW71351;EAW71352;EAW71353;EAW71354;EAW71355;EAW71356;EAW71357;EAW71358;NP_001108488;Q9P2N6;XP_005264037;XP_005264038;XP_005264039;XP_005264040;XP_005264041;XP_005264042;XP_005264043;XP_005264044;XP_005264045;XP_005264049;XP_006712692;XP_006712693;XP_006712694 Hs.516341 1340534;1649962;1649964;1671308;1734744;1739905;1769007;1854785;2118838;5037552;5118444;7185441 A002A10;D11S3316;D2S113;D2S1536E;D2S1685E;D2S2120;D8S2279;G19842;G29973;RH47905;RH65669 FLJ10081;FLJ23799;KIAA1310;NSL3;Rcd1 NSL complex protein NSL3;OTTHUMP00000207551;OTTHUMP00000207554;OTTHUMP00000207555;OTTHUMP00000207556;OTTHUMP00000207557;OTTHUMP00000207558;hypothetical protein LOC55683;non-specific lethal 3 homolog;serum inhibited-related protein;testis development protein PRTD;uncharacterized protein KIAA1310 APPROVED protein-coding ENSG00000114982 HGNC:25473 07643 VALIDATED 737003 KAT7 K(lysine) acetyltransferase 7 ENCODES a protein that exhibits histone acetyltransferase activity (inferred); sequence-specific DNA binding transcription factor activity (inferred); transferase activity, transferring acyl groups other than amino-acyl groups (inferred); INVOLVED IN DNA replication; histone H3 acetylation; histone H4-K12 acetylation; PARTICIPATES IN histone modification pathway; FOUND IN cytoplasm; histone acetyltransferase complex; nucleoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; acetylsalicylic acid; all-trans-retinoic acid 17 17 17 q21.32 44321054 44361451 + 47865922 47906458 + 49788619 49829096 + 1580863;6480464;9104959 21151613 10438470;10930412;11278932;11978794;12034878;12477932;14702039;15383276;15489334;15963510;16096645;16169070;16189514;16387653;16428461;16645042;16880509;16964243;17081983;17182677;17954561;18250300;18684714;18832067;19187766;19372580;19393168;19454010;19913121;20053357;20129055;20628086;20980834;21040551;21139048;21832049;21856198;21890473;21900206;21988832;22144582;22334692;23000965;23188630;23319590;23707616;23955388;24065767;24125069;24457600;24816145;25015289 11143 D6RFZ5;E7EUP3;O95251 ABBA01041216;AC015795;AC027801;AF074606;AF140360;AF217502;AK023890;AK122932;AK293976;AK294014;AK294052;AK294367;AK294602;AK294836;AK295914;AK297212;AMYH02033580;BC015485;BC032640;CH471109;DC306552;NM_001199155;NM_001199156;NM_001199157;NM_001199158;NM_007067 AAC99368;AAD42348;AAH32640;AAL56649;ABM81809;ABM84963;BAG51236;BAG53804;BAG57346;BAG57375;BAG57401;BAG57629;BAG57789;BAG57945;BAG58702;BAH12525;EAW94658;EAW94659;EAW94660;EAW94661;NP_001186084;NP_001186085;NP_001186086;NP_001186087;NP_008998;O95251 Hs.21907 1702740;1778716;2110591;2150979;2167596 DXS7479;GDB:451733;MYST2_7995;RH11199;WI-14886 HBO1;HBOA;MYST-2;MYST2;ZC2HC7 MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2;MYST histone acetyltransferase 2;OTTHUMP00000220713;OTTHUMP00000220714;OTTHUMP00000220715;OTTHUMP00000220716;OTTHUMP00000220717;OTTHUMP00000220718;histone acetyltransferase KAT7;histone acetyltransferase MYST2;histone acetyltransferase binding to ORC1;lysine acetyltransferase 7 APPROVED protein-coding ENSG00000136504 HGNC:17016 07135 609880 VALIDATED 7257632 KATNBL1P1 katanin p80 subunit B-like 1 pseudogene 1 13 13 13 9716810 9717576 + 28641724 28642480 + 28067587 28068343 + 100420919 ABBA01035732;AL356915;AMYH02027763;NG_024907 pseudo HGNC:39724 INFERRED 1323009 KAT8 K(lysine) acetyltransferase 8 This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 16 16 16 p11.2 29155307 29169042 - 31128985 31142714 + 31117664 31131393 + 2316155;6480464;6484113;9586031;9586034;9586036;9104959 19450511;21151613;22199269;23394073;24802406 10786633;11742995;11965546;12397079;12477932;14702039;15342556;15489334;15498874;15923642;15960975;16024812;16096645;16227571;17182677;17189187;17694080;17967868;18058815;19578370;19766566;19854137;19913121;20018852;20224553;20360068;20479123;20628086;21217699;21321083;21502975;21691301;22020126;22152480;22586264;22918831;22939629;23602568;23628702;23638218;23863932;24126058;24163370;24837678;24898892;8125298 84148 H3BMX5;Q9H7Z6 AA682878;ABBA01042079;AC009088;AC135050;AF217501;AF260665;AF289578;AK021872;AK024102;AK225660;AK291106;AL050395;AMYH02031843;BC037773;BP342476;CD364543;CH471192;NM_032188;NM_182958 AAF72665;AAH37773;AAL55762;AAL56648;BAB13924;BAB14827;BAF83795;CAH56416;EAW52157;EAW52158;NP_115564;NP_892003;Q9H7Z6 Hs.533803 1668242;1685375;1687766;1691078;5124347 D16S3336;RH65237;RH68632;RH69053;RH98758 FLJ14040;MOF;MYST-1;MYST1;ZC2HC8;hMOF MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1;MYST histone acetyltransferase 1;OTTHUMP00000163246;OTTHUMP00000236628;histone acetyltransferase KAT8;histone acetyltransferase MYST1;lysine acetyltransferase 8;ortholog of Drosophila males absent on the first (MOF);probable histone acetyltransferase MYST1 APPROVED protein-coding ENSG00000103510 HGNC:17933 11381 609912 VALIDATED 1322615 KATNB1 katanin p80 (WD repeat containing) subunit B 1 Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008] 16 16 16 q21 42266969 42288421 + 57769623 57791162 + 57735715 57757250 + 1580863;6480464 10209026;10751153;12477932;15215300;15231747;15489334;15761153;16203747;17081983;18029348;18490357;19261606;19531213;19946888;20508983;21890473;22325007;22939629;24816145;6646120;8221885;8907702;9568719;9658175 10300 H3BPD8;H3BPK1;H3BT67;H3BTU7;H3BTV8;Q9BVA0 AB209250;ABBA01025282;AC018552;AC092118;AF052432;AMYH02032112;BC001353;BT007022;BU501165;CA306372;CH471092;CR456762;NM_005886;XM_005255772;XM_006721121;XM_006721122;XM_006721123 AAC09328;AAH01353;AAP35668;ABM81693;BAD92487;CAG33043;EAW82950;EAW82951;EAW82952;NP_005877;Q9BVA0;XP_005255829;XP_006721184;XP_006721185;XP_006721186 Hs.275675;Hs.732486 1681813;1706320 RH91922;SHGC-80725 KAT OTTHUMP00000164672;katanin (80 kDa);katanin p80 (WD40-containing) subunit B 1;katanin p80 WD40 repeat-containing subunit B1;katanin p80 WD40-containing subunit B1;katanin p80 subunit B1;p80 katanin APPROVED protein-coding ENSG00000140854 HGNC:6217 04081 602703 REVIEWED 7257634 KATNBL1P2 katanin p80 subunit B-like 1 pseudogene 2 1 1 1 p21.3 93370544 93371426 - 95116108 95116990 - 94650552 94651434 - 100130235 ABBA01045506;AC093117;AMYH02001509;NG_022729 pseudo HGNC:49052 INFERRED 7257624 KATNBL1P3 katanin p80 subunit B-like 1 pseudogene 3 18 18 18 2468972 2470216 - 2593673 2594912 - 2593674 2594913 - 100420946 ABBA01049831;AMYH02034213;AP005136;NG_026267 pseudo HGNC:49053 INFERRED 1350599 KATNAL2 katanin p60 subunit A-like 2 ENCODES a protein that exhibits ATP binding (inferred); microtubule binding (inferred); microtubule-severing ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); microtubule severing (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); INTERACTS WITH 3-methylcholanthrene; pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 18 18 18 q21.1 41429772 41479137 + 44497565 44628614 + 46917602 47102243 + 737633;1580863;6480464;8554872 12477932 15146197;17207965;21173776;22495311;22939629;23018867;8889548 83473 K7EIJ8;K7EM02;K7EMW1;K7EPQ6;K7EQ00;Q8IYT4 ABBA01018616;AC012254;AC090373;AC245440;AC245453;AK309134;AL512748;BC034999;CA311572;CH471096;CN303333;NM_031303;XM_005258357;XM_005258358;XM_005258361;XM_006722554 AAH34999;ADQ31811;CAC21672;EAW62901;EAW62902;EAW62903;EAW62904;NP_112593;Q8IYT4;XP_005258414;XP_005258415;XP_005258418;XP_006722617 Hs.404137 1698984;1699618;1705226;1718819;1775030;1848474 D18S1356;RH103061;RH103411;RH123113;SHGC-57953;SHGC-78100 DKFZp667C165;MGC33211 katanin p60 ATPase-containing subunit A-like 2;p60 katanin-like 2 protein-coding ENSG00000167216 HGNC:25387 13754 614697 VALIDATED 7257633 KATNBL1P4 katanin p80 subunit B-like 1 pseudogene 4 5 5 5 q11.2 48175701 48176934 + 51226642 51227870 + 51930808 51932036 + 100128982 ABBA01015712;AC091903;AMYH02011286;NG_021880 pseudo HGNC:49054 INFERRED 7257627 KATNBL1P5 katanin p80 subunit B-like 1 pseudogene 5 6 6 6 26475699 26476290 + 25248417 25249008 + 25248189 25248780 + 100420841 ABBA01066544;AL024509;AMYH02013337;NG_025906 pseudo HGNC:49055 INFERRED 1353857 KATNA1 katanin p60 (ATPase containing) subunit A 1 Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2011] 6 6 6 q25.1 150651214 150694812 - 149916009 149970154 - 149594873 149649018 - 1580863;6480464;8554872 10209026;10445032;10751153;11870226;12477932;14574404;15489334;16203747;16344560;17974975;18029348;18490357;19261606;19287380;19531213;20339000;20508983;21139048;21681775;21890473;21906983;22325007;22939629;23000965;23272056;23904609;24250222;8221885;8907702;9568719;9658175 11104 A8K7S5;B7ZBC8;B7ZBC9;O75449 ABBA01025677;AF056022;AK292090;AL078581;AMYH02014695;AMYH02014696;BC050428;BX276089;CA426364;CH471051;DB031858;NM_001204076;NM_007044;XM_005266804;XM_005266805 AAC25114;AAH50428;BAF84779;EAW47793;EAW47794;EAW47795;NP_001191005;NP_008975;O75449;XP_005266861;XP_005266862 Hs.450175 1662342;1662597;1774986;2140036;5017877 KATNA1;RH46515;SHGC-32611;SHGC-59927;STS-T47614 OTTHUMP00000017392;OTTHUMP00000042860;katanin p60 (ATPase-containing) subunit A 1;katanin p60 ATPase-containing subunit A1;katanin p60 subunit A1;p60 katanin APPROVED protein-coding ENSG00000186625 HGNC:6216 05986 606696 REVIEWED 7257628 KATNBL1P6 katanin p80 subunit B-like 1 pseudogene 6 6 6 6 q24.3 147863228 147865383 - 147122805 147124960 - 146801669 146803824 - 12477932 729176 ABBA01025720;AL138916;AMYH02014656;BC067801;NR_003954 Hs.486708 pseudo HGNC:49056 VALIDATED 1321754 KAZALD1 Kazal-type serine peptidase inhibitor domain 1 This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. It contains an N-terminal insulin growth factor-binding domain, a central Kazal-type serine protease inhibitor and follistatin-like domain, and a C-terminal immunoglobulin-like domain. Studies of the mouse ortholog suggest that this gene product may have a function in bone development and bone regeneration. [provided by RefSeq, Feb 2009] 10 10 10 q24.31 96558719 96563071 + 102820999 102827888 + 101061242 101068131 + 737633;1580863;6480464 12477932 12975309;14702039;15164054;15261838;15340161;15489334;15555553;16344560;16385451;22836805;24002581;8125298 81621 Q96I82 ABBA01063207;AF333487;AK172862;AK172864;AK225949;AL133215;AMYH02023666;AX380751;AY014271;AY359087;BC007758;BC012394;BC053611;CH471066;DA422973;NM_030929;XM_005270193;XM_005270194;XR_246107 AAG50291;AAG50354;AAH07758;AAQ89445;ABM83683;ABM86979;BAD18818;CAD28374;EAW49782;EAW49783;EAW49784;EAW49785;NP_112191;Q96I82;XP_005270250;XP_005270251 Hs.534859;Hs.632079;Hs.733496 BONO1;FKSG28;FKSG40;FLJ24094;IGFBP-rP10 IGFBP-related protein 10;Kazal-type serine protease inhibitor domain 1;OTTHUMP00000020298;bone- and odontoblast-expressed gene 1;kazal-type serine protease inhibitor domain-containing protein 1;novel kazal-type serine protease inhibitor domain and immunoglobulin domain containing protein APPROVED protein-coding HGNC:25460 13755 609208 REVIEWED 1603549 KBTBD12 kelch repeat and BTB (POZ) domain containing 12 INTERACTS WITH benzo[a]pyrene (ortholog); choline (ortholog); folic acid (ortholog) 3 3 3 q21.3 126071864 126136471 + 127634075 127706514 + 127915232 127987671 + 6480464 11076863;12477932;15489336;16381901;20379614 166348 B5MCZ4;Q3ZCT8 ABBA01020886;AC011311;AK128176;AK307108;AMYH02007610;AMYH02007611;BC041365;BX537865;CH471052;NM_207335;XM_005247167;XM_005247168 AAH41365;BAC87309;CAD97868;CAL38186;CAL38334;EAW79328;NP_997218;Q3ZCT8;XP_005247224;XP_005247225 Hs.132087 5015619;5037552 D11S3114;D8S2279 DKFZp779E2271;FLJ46299;KLHDC6 OTTHUMP00000197687;OTTHUMP00000197688;OTTHUMP00000197689;kelch domain containing 6;kelch domain-containing protein 6;kelch repeat and BTB domain-containing protein 12 APPROVED protein-coding ENSG00000187715 HGNC:25731 17001 VALIDATED 1321151 KBTBD2 kelch repeat and BTB (POZ) domain containing 2 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; valproic acid 7 7 7 p14.3 32889471 32913155 - 32907778 32931468 - 32868166 32891856 - 1580863;6480464 10810093;10819331;12477932;15489334;18775313;21145461;21906983;21963094;22505724;23000965;24250222 25948 C9JI11;C9JUE5;C9JZ29;Q8IY47 AACC02000103;AB040922;ABBA01056853;ABBA01056854;AC018648;AF004292;AF151831;AF161402;AK024557;AK292802;AL117562;AMYH02015488;BC014633;BC032367;BC037887;BC047107;CH471073;NM_015483;XM_005249696;XM_005249697 AAD34068;AAF28962;AAH37887;AAH47107;ADZ15597;BAA96013;BAF85491;CAB55994;EAL24459;EAW94000;EAW94001;EAW94002;NP_056298;Q8IY47;XP_005249753;XP_005249754 Hs.372541 1689432;1797098;1853481;2124965;2159183 DKFZP566C134;RH46406;RH92901;STS-N74357;WI-11592 BKLHD1 BTB and kelch domain containing 1;BTB and kelch domain-containing protein 1;OTTHUMP00000202853;kelch repeat and BTB domain-containing protein 2 protein-coding ENSG00000170852 HGNC:21751 13756 VALIDATED 1314664 KATNBL1 katanin p80 subunit B-like 1 FOUND IN nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 15 15 15 q14 11235435 11304861 - 34432875 34502297 - 34140674 34210096 - 737633;6480464 12477932 11076863;11230166;11256614;14702039;15489334;15489336;16169070;16341674;16381901;19322201;21372175;21900206 79768 H0YKW3;H0YL62;H0YLP4;H0YLX9;H0YMR8;H0YNF7;H0YNG2;H0YNH1;H0YNW3;Q9H079 ABBA01038543;AC079203;AK026210;AK293021;AK293695;AK297904;AK311338;AL136908;AL833631;AMYH02030152;AMYH02030153;AMYH02030154;AMYH02030155;AMYH02030156;AMYH02030157;AMYH02030158;BC026234;BC037234;BC047748;BC111000;BM831547;BX389537;CH471125;NM_024713;XM_005254666;XM_005254667;XM_005254668;XM_006720684 AAH26234;AAI11001;BAB15394;BAF85710;BAG57131;BAG60223;CAB66842;CAL38412;EAW92288;EAW92289;EAW92290;NP_078989;Q9H079;XP_005254723;XP_005254724;XP_005254725;XP_006720747 Hs.633566 1644548;1655157;1662763;5015881 G31549;GDB:335751;RH45749;WI-11840 C15orf29;FLJ22557;MGC117356 KATNB1-like protein 1;OTTHUMP00000159730;hypothetical protein LOC79768;uncharacterized protein C15orf29 APPROVED protein-coding ENSG00000134152 HGNC:26199 07995 VALIDATED 1604839 KBTBD11 kelch repeat and BTB (POZ) domain containing 11 INTERACTS WITH 17beta-estradiol; 2-methylcholine; all-trans-retinoic acid 8 8 8 p23.3 1864864 1897747 + 1921949 1955109 + 1973783 2006943 + 6480464 14508709;15592455;22505724;23251661;9314494;9872452 9920 O94819 AB018254;ABBA01016750;ABBA01016751;AC019257;AF009203;AMYH02017237;AMYH02017238;AMYH02017239;AY762229;CH471181;NM_014867;XM_005266043;XM_005266044;XM_005266045;XM_006725112;XM_006725113;XM_006725114 AAI69331;AAI69332;AAW83120;BAA34431;EAW51487;NP_055682;O94819;XP_005266100;XP_005266101;XP_005266102;XP_006725175;XP_006725176;XP_006725177 Hs.5333 1670519;1854224;2119579;2131714;2161572 A003B24;A004A42;AF009209;BCD1479;D8S1382E KIAA0711;KLHDC7C OTTHUMP00000224482;chronic myelogenous leukemia-associated protein;kelch domain-containing protein 7B;kelch repeat and BTB domain-containing protein 11 protein-coding ENSG00000176595 HGNC:29104 17195 VALIDATED 1346287 KBTBD6 kelch repeat and BTB (POZ) domain containing 6 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; cadmium dichloride 13 13 13 q14.11 22759139 22764364 - 41701709 41706936 - 41127573 41132800 - 737633;6480464;8554872 12477932 14702039;15489334;18247557;19295130;19615732;20562859;21145461;21906983;21963094;22797925;24778252;24816145;25036637 89890 Q86V97 ABBA01021277;AK023475;AK056633;AK095195;AK096608;AK299627;AL354696;AL359577;AL833839;AMYH02027917;BC000560;BC051349;BU928896;CD109431;CD557535;CR749688;NM_152903 AAH00560;AAH51349;ACE87007;ACE87695;BAB71238;BAC04826;BAG61555;CAD38699;NP_690867;Q86V97 Hs.534040 1721339;1733288;1856408;2108799;2122059;2137024;5020740;5037552;5092872 A009B24;D13S642;D8S2279;G32384;G59669;KBTBD6_8119;L17809;SHGC-31411;WIAF-2138 DKFZp547E1912;DKFZp547M073;FLJ58260 OTTHUMP00000018312;kelch repeat and BTB domain-containing protein 6 protein-coding ENSG00000165572 HGNC:25340 13758 VALIDATED 1322060 KBTBD3 kelch repeat and BTB (POZ) domain containing 3 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; melphalan 11 11 11 q22.3 103086081 103112731 - 105921825 105948465 - 106048808 106077765 - 6480464;8554872 12477932;14702039;15489334;17342744;20353815;21906983 143879 A8K1K0;E9PKJ3;G3V161;Q8NAB2;U3KQF6 ABBA01039900;AK055247;AK092993;AK124540;AK289915;AMYH02025514;AP001001;BC047311;BC062667;BC107691;BC117466;BX640672;BX647830;CD104687;CH471065;NM_152433;NM_198439;XM_006718767 AAI07692;AAI17467;ACE86677;ACE87362;ADR83076;BAC04012;BAF82604;CAE45804;EAW67072;EAW67073;EAW67074;EAW67075;EAW67076;NP_689646;NP_940841;Q8NAB2;XP_006718830 Hs.101949 1714189;2147284 RH119705;RH47550 BKLHD3;FLJ30685 BTB and kelch domain containing 3;BTB and kelch domain-containing protein 3;OTTHUMP00000232339;OTTHUMP00000232340;kelch repeat and BTB domain-containing protein 3 protein-coding ENSG00000182359 HGNC:22934 10005 VALIDATED 3130125 KBTBD13 kelch repeat and BTB (POZ) domain containing 13 The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010] 15 15 15 q22.31 42247313 42250435 + 65369154 65372276 + 65076816 65079938 + 6480464;7240710;8554872;8699517 11181995;12805120;16207353;16344560;20301465;21109227;22542517 390594 C9JR72 ABBA01038861;AC013553;AMYH02030619;CH471082;DB331058;NG_021411;NM_001101362 C9JR72;EAW77711;NP_001094832 Hs.586890 1336415;1340545 D15S125;D15S155 HCG1645727;NEM6 kelch repeat and BTB domain-containing protein 13;nemaline myopathy type 6 APPROVED protein-coding HGNC:37227 609273;613727 REVIEWED 1606999 KBTBD8 kelch repeat and BTB (POZ) domain containing 8 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoskeleton (inferred); Golgi apparatus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsane; arsenic atom 3 3 3 p14 66994219 67007126 + 67048727 67061634 + 66998303 67011210 + 6480464;8554872 11347906;12477932;14702039;15489334;16344560;19893584;21139048;21145461;22505724;22797727 84541 C9J331;C9JAA6;Q8NFY9 AB058745;ABBA01030870;AC020655;AF385438;AK096640;AK300397;AMYH02006989;BC117487;CH471055;DA246470;DB065239;NM_032505;XM_005264771 AAI17488;AAM43839;ADR83380;BAB47471;BAG62128;EAW65454;NP_115894;Q8NFY9;XP_005264828 Hs.116665 1796902;2112640 D3S4381;TA-KRP_1687 FLJ57592;KIAA1842;TA-KRP OTTHUMP00000213470;T-cell activation kelch repeat protein;kelch repeat and BTB domain-containing protein 8 protein-coding ENSG00000163376 HGNC:30691 18138 VALIDATED 1321017 KBTBD4 kelch repeat and BTB (POZ) domain containing 4 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cyclosporin A; quercetin; trichostatin A 11 11 11 p11.2 47736480 47743298 - 47593749 47600567 - 47572197 47579015 - 6480464;8554872 11042152;12477932;14702039;15489334;16169070;16344560;21145461;21890473;21906983;21963094;22939624 55709 E9PJ66;E9PJY1;E9PL18;E9PM58;E9PQ38;E9PSA4;Q9NVX7 ABBA01060699;ABBA01060700;AC104942;AF151086;AI282006;AK001312;AK001749;AK091607;AK222550;AK222985;AK225062;AL713735;AMYH02024734;BC002736;CH471064;CR457270;DA016320;DA170281;DA559313;KF459542;NM_016506;NM_018095;NR_024222;XM_006718261;XM_006718262 AAF36172;AAH02736;ADZ15413;BAA91616;BAA91880;BAD96270;BAG52391;CAD28521;CAG33551;EAW67898;EAW67899;EAW67900;EAW67901;EAW67902;NP_057590;NP_060565;Q9NVX7;XP_006718324;XP_006718325 Hs.718483 1336012;1712915;1779268;2217508 D11S4109;KBTBD4_3651;RH121093;SHGC-153212 BKLHD4;FLJ10450;HSPC252 BTB and kelch domain containing 4;BTB and kelch domain-containing protein 4;OTTHUMP00000234356;OTTHUMP00000234357;OTTHUMP00000234358;kelch repeat and BTB domain-containing protein 4 protein-coding ENSG00000123444 HGNC:23761 13757 VALIDATED 1346938 KCNA1 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008] 12 12 12 p13.32 6640916 6649264 + 5019073 5027422 + 4909907 4918256 + 1580863;6480464;7240710;8554872;8699517 10355668;10428084;10624965;11013453;11026449;11097830;11773313;11937501;11960817;12435606;12477932;12799903;12893943;12907802;12944270;1349297;14592966;15136567;15351427;15486093;15532032;15837928;16344560;16382104;17136396;17912752;18474843;18926884;19202350;19205071;19307729;19903818;19912772;19913121;19968958;20301317;20301785;20628086;20660867;20823417;21106501;2128063;21307345;21483673;21827920;21847110;22158511;22609616;23349320;24275721;24372310;24782544;7477295;7842011;8541859;8821794;8845167;8871592;8938729;9600245 3736 Q09470 ABBA01048761;AC006063;AMYH02025931;BC101733;BC112180;CH471116;DA236475;L02750;NG_011815;NM_000217 AAA36139;AAI01734;AAI12181;EAW88833;NP_000208;Q09470 Hs.416139 1656627;1729035;1744191;1744193;1744195;1793288;1793290;1796156;2113996;2149157;5492401;5493285 AB063024;GDB:435448;GDB:435453;GDB:435459;KCNA1_867;PMC20739P2;PMC20739P3;RH11273;RH78540;UniSTS:143652;UniSTS:480933;UniSTS:485592 AEMK;EA1;HBK1;HUK1;KV1.1;MBK1;MGC126782;MGC138385;MK1;RBK1 potassium voltage-gated channel subfamily A member 1;voltage-gated K(+) channel HuKI;voltage-gated potassium channel HBK1;voltage-gated potassium channel subunit Kv1.1 APPROVED protein-coding ENSG00000111262 HGNC:6218 08885 160120;176260 REVIEWED 735518 KCNA2 potassium voltage-gated channel, shaker-related subfamily, member 2 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 1 p13 109392891 109395460 - 111136202 111174096 - 110593580 110631474 - 1580863;6480464;7242761 17982915 10428084;10428758;10516156;10624965;10896669;11149959;11401852;11551945;11739373;12151401;12213813;12395204;12435606;12477932;12569367;12815189;12911333;12917345;12944270;14592966;15215309;15588985;16382104;1715584;17234891;17576778;17959782;18003609;18042681;18053989;18474843;19403695;19435843;19713757;19883299;19912772;20584892;20842544;21044565;21906595;2251283;22649228;24782544;2722779;7477295;7905852;8002006;8636142;8662756;8889548;8938729;8980147;9635436;9878055 3737 A8K1Z6;P16389 ABBA01068393;AK290061;AL365361;AMYH02001726;BC043564;BI907383;BM682747;CH471122;L02752;NG_027997;NM_001204269;NM_004974 AAA36141;AAH43564;BAF82750;EAW56455;EAW56456;NP_001191198;NP_004965;P16389 Hs.248139;Hs.657199;Hs.731191 1796158 KCNA2_869 HBK5;HK4;KV1.2;MGC50217;MK2;NGK1;RBK2 HUKIV;OTTHUMP00000013287;OTTHUMP00000234759;potassium channel;potassium voltage-gated channel subfamily A member 2;voltage-gated K(+) channel HuKIV;voltage-gated potassium channel HBK5;voltage-gated potassium channel protein Kv1.2;voltage-gated potassium channel subunit Kv1.2 APPROVED protein-coding ENSG00000177301 HGNC:6220 01443 176262 REVIEWED 1346255 KATNAL1 katanin p60 subunit A-like 1 ENCODES a protein that exhibits ATP binding (inferred); microtubule binding (inferred); microtubule-severing ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); microtubule severing (inferred); spermatogenesis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); microtubule cytoskeleton (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; copper(2+) sulfate 13 13 13 q12.3 11846314 11951125 - 30776767 30881624 - 30202630 30307487 - 737633;1580863;6480464;8554872 12477932 14623284;14702039;15057823;15489334;16189514;16344560;19322201;20519956;21139048;21890473;21897333;22808956;7829101 84056 A2A3H2;B3KUK7;Q5T558;Q9BW62 ABBA01035702;ABBA01035703;ABBA01035704;ABBA01035705;ABBA01035706;ABBA01035707;AK097423;AK291439;AK315724;AL356750;AMYH02027789;AMYH02027790;AMYH02027791;AW019882;BC000612;BX647147;CH471075;DA085487;DR006891;NM_001014380;NM_032116;XM_005266574;XM_006719881 AAH00612;ABM83565;ABM86803;BAF84128;BAG38080;BAG53469;EAX08452;EAX08453;NP_001014402;NP_115492;Q9BW62;XP_005266631;XP_006719944 Hs.243596 1706616;1801448;1802686;1805608;1805956;1807108;1807296;1807776;1808044;1808046;1808460;1808462;1808748;1808826;1809498;1811024;1811394;1817312;1817492;1817680;1818242;1819330;1820620;1820732;1822528;1823190;1823344;1823442;1823532;1824500;1826176;1826270;1826446;1827994;1828466;1829156;1829842;1830138;1830314;1830904;1831650;1831760;1831880;1832172;1832226;1832468;1833040;1833136;1833276;1833918;1834060;1834118;1834222;1834224;1834456;1834940;1835580;1836008;1836416;1837464;1838324;1839538;1839604;1839920;1840550;1841576;1842340;1842476;1843292;1843748;1843832;1844044;1844968;1845212;1846228;1846254;1846342;1846454;1860930;1860932;1860934;1860936;1860938;1860940;1860942;1860944;1860946;1860948;1860950;1860952;1860954;1860956;1860958;1860960;1860962;1860964;1860966;1860968;1860970;1860972;1860974;1860976;1860978;1860980;1860982;1860984;1860986;1860988;1860990;1860992;1860994;1860996;1860998;1861000;1861002;1861004;1861006;1861008;1861010;1861012;1861014;1861016;1861018;1861020;1861022;1861024;1861026;1861028;1861030;1861032;1861034;1861036;1861038;1861040;1861042;1861044;1861046;1861048;1861050;1861052;1861054;1861056;1861058;1861060;1861062;1861064;1861066;1861068;1861070;1861072;1861074;1861076;1861078;1861080;1861082;1861084;1861086;1861088;1861090;1861092;1861094;1861096;1861098;1861100;1861102;1861104;1861106;1861108;1861110;1861112;1861114;1861116;1861118;1861120;1861122;1861124;1861126;1861128;1861130;1861132;1861134;1861136;1861138;1861140;1861142;1861144;1861146;1861148;1861150;1861152;1861154;1861156;1861158;1861160;1861162;1861164;1861166;1861168;1861170;1861172;1861174;1861176;1861178;1861180;1861182;1861184;1861186;1861188;1861190;1861192;1861194;1861196;1861198;1861200;1861202;1861204;1861206;1861208;1861210;1861212;1861214;1861216;1861218;1861220;1861222;1861224;1861226;1861228;1861230;1861232;1861234;1861236;1861238;1861240;1861242;1861244;1861246;1861248;1861250;1861252;1861254;1861256;1861258;1861260;1861262;1861264;1861266;1861268;1861270;1861272;1861274;1861276;1861278;1861280;1861282;1861284;1861286;1861288;1861290;1861292;1861294;1861296;1861298;1861300;1861302;1861304;1861306;1861308;1861310;1861312;1861314;1861316;1861318;1861320;1861322;1861324;1861326;1861328;1861330;1861332;1861334;1861336;1861338;1861340;1861342;1861344;1861346;1861348;1861350;1861352;1861354;1861356;1861358;1861360;1861362;1861364;1861366;1861368;1861370;1861372;1861374;1861376;1861378;1861380;1861382;1861384;1861386;1861388;1861390;1861392;1861394;1861396;1861398;1861400;1861402;1861404;1861406;1861408;1861410;1861412;1861414;1861416;1861418;1861420;1861422;1861424;1861426;1861428;1861430;1861432;1861434;1861436;1861438;1861440;1861442;1861444;1861446;1861448;1861450;1861452;1861454;1861456;1861458;1861460;1861462;1861464;1861466;1861468;1861470;1861472;1861474;1861476;1861478;1861480;1861482;1861484;1861486;1861488;1861490;1861492;1861494;1861496;1861498;1861500;1861502;1861504;1861506;1861508;1861510;1861512;1861514;1861516;1861518;1861520;1861522;1861524;1861526;1861528;1861530;1861532;1861534;1861536;1861538;1861540;1861542;1861544;1861546;1861548;1861550;1861552;1861554;1861556;1861558;1861560;1861562;1861564;1861566;1861568;1861570;1861572;1861574;1861576;1861578;1861580;1861582;1861584;1861586;1861588;1861590;1861592;1861594;1861596;1861598;1861600;1861602;1861604;1861606;1861608;1861610;1861612;1861614;1861616;1861618;1861620;1861622;1861624;1861626;1861628;1861630;1861632;1861634;1861636;1861638;1861640;1861642;1861644;1861646;1861648;1861650;1861652;1861654;1861656;1861658;1861660;1861662;1861664;1861666;1861668;1861670;1861672;1861674;1861676;1861678;1861680;1861682;1861684;1861686;1861688;1861690;1861692;1861694;1861696;1861698;1861700;1861702;1861704;1861706;1861708;1861710;1861712;1861714;1861716;1861718;1861720;1861722;1861724;1861726;1861728;1861730;1861732;1861734;1861736;1861738;1861740;2150377;2158200;2163333;2197302;2197304;2197306;2197308;2197310;2197312;2197314;2197316;2197318;2197320;2197322;2197324;2197326;2197328;2197330;2197332;2197334;2197336;2197338;2197340;2197342;2197344;2197346;2197348;2197350;2197352;2197354;2197356;2197358;2197360;2197362;2197364;2197366;2197368;2197370;2197372;2197374;2197376;2197378;2197380;2197382;2197384;2197386;2197388;2197390;2197392;2197394;2197396;2197398;2197400;2197402;2197404;2197406;2197408;2197410;2197412;2197414;5015959;5122013 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MGC2599 OTTHUMP00000018194;OTTHUMP00000061637;katanin p60 ATPase-containing subunit A-like 1;p60 katanin-like 1 protein-coding ENSG00000102781 HGNC:28361 13753 614764 VALIDATED 1315004 KCMF1 potassium channel modulatory factor 1 ENCODES a protein that exhibits ligase activity (inferred); metal ion binding (inferred); zinc ion binding (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH (-)-demecolcine; cobalt dichloride; copper(2+) sulfate 2 2 2 p11.2 85082587 85114172 + 85198231 85286595 + 84971108 85059472 + 1580863;6480464 12477932;12810064;14702039;15581609;16314831;17550899;21139048;21906983;21963094;21987572;22505724;22797925;22863883;22952844;23383273;23667531;24816145;8619474;9110174 56888 C9J3I2;C9JSW5;Q9P0J7 AB083199;ABBA01075734;AC022210;AC078974;AF131740;AF155652;AK023403;AK311099;AK314761;AL122115;AMYH02004163;AMYH02004164;AMYH02004165;AMYH02004166;AMYH02004167;AMYH02004168;AW466865;BC000178;BU844982;CH471053;CT004343;NM_020122;XM_006712052 AAF67009;AAH00178;AAX88897;AAY24192;ABM85005;BAB14563;BAC43745;BAG37299;CAB59274;EAW99544;EAW99545;EAW99546;NP_064507;Q9P0J7;XP_006712115 Hs.654968 1676964;1700066;1739019;2166963;2217510;5016478;5020881;5022578;5024761;5037552 D1S1423;D2S1877;D8S2279;GDB:434012;KCMF1_3657;L17709;RH103646;RH11910;RH36905;RH93342 DEBT91;DKFZp434L1021;FIGC;PCMF;ZZZ1 E3 ubiquitin-protein ligase KCMF1;FGF-induced in gastric cancer;FGF-induced ubiquitin-protein ligase in gastric cancers;OTTHUMP00000202861;ZZ-type zinc finger-containing protein 1;differentially expressed in branching tubulogenesis 91;zinc finger, ZZ domain containing 1 protein-coding ENSG00000176407 HGNC:20589 13761 614719 VALIDATED 731771 KCNA4 potassium voltage-gated channel, shaker-related subfamily, member 4 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011] 11 11 11 p14 30177828 30184551 - 30031288 30038577 - 30009741 30017030 - 1580863;6480464 10428084;10428758;10896669;11149959;11278603;11352924;11389904;11723117;11744724;11937501;11997254;12065763;12435606;12860415;1362562;1487251;15123239;15136567;15955806;16169070;16308273;16344560;16382104;16637659;17156368;17959711;18640987;19453640;1986382;19912772;19961828;19968958;2001794;21307345;21945024;22087225;22560931;2263489;22889411;23390957;7477295;7905852;8449523;8601796;8938729;9024696;9581762;9786987 3739 P22459 ABBA01060941;AC124657;AK311228;AMYH02024532;BE467209;DA328650;L02751;M55514;M60450;NM_002233 AAA36140;AAA60034;AAA61275;AAI66685;NP_002224;P22459 Hs.592002 1793206;1796160;2143736;2149871 D11S4337;KCNA4;KCNA4_359;PMC20269P1 HBK4;HK1;HPCN2;HUKII;KCNA4L;KCNA8;KV1.4;PCN2 OTTHUMP00000231998;cardiac potassium channel;fetal skeletal muscle potassium channel;potassium channel 2;potassium voltage-gated channel subfamily A member 4;potassium voltage-gated channel, shaker-related subfamily, member 4-like;rapidly inactivating potassium channel;shaker-related potassium channel Kv1.4;type A potassium channel;voltage-gated K(+) channel HuKII;voltage-gated potassium channel HBK4;voltage-gated potassium channel HK1;voltage-gated potassium channel subunit Kv1.4 APPROVED protein-coding ENSG00000182255 HGNC:6222 01444 176266 REVIEWED 1312909 KBTBD7 kelch repeat and BTB (POZ) domain containing 7 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; benzo[a]pyrene 13 13 13 q14.11 22823146 22826137 - 41765711 41768702 - 41191575 41194566 - 737633;6480464;8554872 12477932 11076863;11230166;14702039;15383276;15489334;15489336;16169070;16189514;16381901;18187620;18775313;20132730;20562859;21139048;21145461;21890473;21900206;21906983;21963094;21988832;22505724;22939624;24816145 84078 B4DS80;Q8WVZ9 ABBA01021275;AK091344;AK299614;AK315589;AL136782;AL354696;AMYH02027917;BC022033;CH471075;CR533558;FJ150424;NM_032138 AAH22033;ABM81764;ABM84920;ACH92650;BAC03641;BAG37961;BAG61542;CAB66716;CAG38589;CAL37913;CAL38452;EAX08647;NP_115514;Q8WVZ9 Hs.63841 1733288;1770265;2142218;2148144;2148146;2218782 A004S08;D13S642;KBTBD7_3688;RH47170;SHGC-143;SHGC-35896 DKFZp434E2318 OTTHUMP00000018313;kelch repeat and BTB domain-containing protein 7 protein-coding HGNC:25266 13759 PROVISIONAL 731012 KCNA6 potassium voltage-gated channel, shaker-related subfamily, member 6 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008] 12 12 12 p13 6540177 6582117 + 4918342 4961093 + 4809176 4851927 + 1580863;6480464;8554872 12477932;15489334;16382104;17207965;18162557;18474843;20379614;22939624;2347305;8821794 3742 P17658 ABBA01048762;AC005833;AC006063;AI369246;AK057863;AMYH02025930;AMYH02025931;BC069355;CH471116;NM_002235;X17622;XM_005253686 AAH69355;ADQ31926;CAA35623;EAW88834;NP_002226;P17658;XP_005253743 Hs.306190 1659276;1673484;1733770;2138761;2187409;2191225;5492719 D12S1088;D12S1179E;HSC0CG102;MARC_16417-16418:1033404800:3;STS-X17622;UniSTS:482131;WI-19183 FLJ25134;HBK2;KV1.6;PPP1R96 human brain potassium channel-2;potassium voltage-gated channel subfamily A member 6;voltage-gated potassium channel HBK2;voltage-gated potassium channel protein Kv1.6;voltage-gated potassium channel subunit Kv1.6 APPROVED protein-coding ENSG00000130035 HGNC:6225 08884 176257 REVIEWED 731065 KCNA5 potassium voltage-gated channel, shaker-related subfamily, member 5 Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012] 12 12 12 p13 6774165 6777029 + 5153085 5155954 + 5043919 5046788 + 1580863;1627654;1627659;1627651;6480464;7240710;7242752;7242761;7242768;7242784;8554872;8699517 11358947;15306225;15876811;17267549;17596340;17982915;20303989 10812072;10921884;11149959;11389904;12021261;12130714;12435606;12477932;12601085;12815189;12850541;12860415;12970345;1349297;13679372;14506255;14527939;14578345;15123239;15140747;15217912;15353504;15588985;15623896;15735608;16051887;16236819;16382104;16411137;16466689;16729292;16765315;16780588;16902793;16956964;17060380;17261810;17344312;17428690;17868645;18068743;18083891;18157847;18209767;18218624;18245566;18281375;18385285;18485768;18755741;18987637;19029374;19332619;19343045;19443837;19675065;19706553;1986382;19913121;19961828;2001794;20018952;20025600;20133392;20184887;20346360;20357183;20556823;20581043;20628086;20638934;20646426;20798505;21681339;22053194;22166221;22360360;22547057;22939624;23185428;23221389;23264583;23390957;23847097;7615797;7838127;8242092;8576199;8821794;8889548;8953041;9271355;9760292 3741 P22460 ABBA01048758;AC005906;AMYH02025931;BC096357;BC096358;BC099665;BC099666;BM663787;BM692565;CH471116;M55513;M60451;M83254;NG_012198;NM_002234 AAA36422;AAA60146;AAA61276;AAH96357;AAH96358;AAH99665;AAH99666;EAW88830;NP_002225;P22460 Hs.150208;Hs.741439 1742905;1743981;1771800;1796162;2218712 GDB:214843;GDB:384722;KCNA5_871;Kcna5;WI-7206 ATFB7;HCK1;HK2;HPCN1;KV1.5;MGC117058;MGC117059;PCN1 OTTHUMP00000238372;cardiac potassium channel;insulinoma and islet potassium channel;potassium channel 1;potassium channel protein;potassium voltage-gated channel subfamily A member 5;voltage-gated potassium channel HK2;voltage-gated potassium channel protein Kv1.5;voltage-gated potassium channel subunit Kv1.5 APPROVED protein-coding ENSG00000130037 HGNC:6224 08888 176267;612240 REVIEWED 1604041 KAZN kazrin, periplakin interacting protein This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011] 1 1 1 p36.21 13408144 13927446 + 14219646 15444544 + 13893155 15118048 + 6480464;8554872 10470851;12477932;14702039;15337775;16344560;16713569;18029348;18519826;18840647;19322201;19727525;19843585;20379614;22118674;22513779;23144326;23648065;24324551;8619474;9110174 23254 B0QYQ6;Q674X7 AB015329;ABBA01004718;ABBA01004719;ABBA01004720;ABBA01004721;ABBA01004722;ABBA01004723;AF052120;AK057155;AK125388;AK293806;AL031273;AL031293;AL031732;AL033525;AL034395;AL035405;AL161427;AL357873;AL358793;AL359873;AL391215;AL445263;AMYH02000338;AMYH02000339;AMYH02000340;AMYH02000341;AMYH02000342;AMYH02000343;AMYH02000344;AMYH02000345;AMYH02000346;AMYH02000347;AMYH02000348;AMYH02000349;AMYH02000350;AMYH02000351;AMYH02000352;AY505119;AY505120;AY505121;AY505122;BC035501;BC101637;BC113621;BC143641;BI916330;CH471167;DA317442;DN831635;DR003677;KF495870;KF495871;KF495873;KF510197;NG_029844;NM_001017999;NM_001018000;NM_001018001;NM_015209;NM_201628;XM_005245795;XM_005245796;Z99291 AAH35501;AAI01638;AAI13622;AAI43642;AAS86434;AAS86435;AAS86436;AAS86437;BAA88115;BAG57213;EAW51704;NP_001017999;NP_001018000;NP_001018001;NP_056024;NP_963922;Q674X7;XP_005245852;XP_005245853 Hs.368823 1336132;1339107;1340667;1341167;1645270;1650669;1675666;1686372;1706550;1732974;1732984;1733066;1733114;1735366;1757717;1759507;1789044;1852816;1961526;2119192;2131109;2133621;2141040;2141934;2153353;2175751;5019651;7186331 A006G25;AL009815;AL010010;AL010125;D1S1176;D1S1356;D1S1362;D1S1411;D1S1438;D1S1850E;D1S2672;D1S2728;D1S507;G32345;G65657;REN51636;RH26678;RH64663;RH67949;RH93212;SHGC-146354;SHGC-152962;SHGC-30459;SHGC-30767;SHGC-74252;SHGC-74254;SHGC-81250 DKFZp686D08115;FLJ10199;FLJ32593;FLJ43398;FLJ43806;KAZ;KIAA1026;MGC126686;MGC142181;RP1-21O18.1 OTTHUMP00000002026;OTTHUMP00000002028;OTTHUMP00000221581;OTTHUMP00000221582;kazrin APPROVED protein-coding ENSG00000189337 HGNC:29173 11122 REVIEWED 1312242 KCNA10 potassium voltage-gated channel, shaker-related subfamily, member 10 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 1 p13.1 109307021 109308979 - 111059839 111061797 - 110517217 110519175 - 1580863;6480464 10836990;12060596;12444201;12477932;16382104;19913121;20628086;7789190;9177773 3744 Q16322;Q7KYZ7 ABBA01068393;AL358215;AMYH02001726;BC074990;CA309199;CH471122;NM_005549;S77547;U96110 AAB34663;AAC51333;AAH74990;EAW56454;NP_005540;Q16322 Hs.248140;Hs.622910 1335479;1759563;1796154;5492597;5492717 D1S2708;KCNA10_865;SHGC-151225;UniSTS:481755;UniSTS:482118 Kcn1;Kv1.8 OTTHUMP00000024387;cyclic GMP gated potassium channel;potassium voltage-gated channel subfamily A member 10;voltage-gated potassium channel subunit Kv1.8 APPROVED protein-coding ENSG00000143105 HGNC:6219 03882 602420 REVIEWED 6481298 KCNAB1-AS1 KCNAB1 antisense RNA 1 3 3 156158946 156164694 - 156441157 156446905 - 100874084 ABBA01058840;AC069413;AMYH02007973;BX104028;HG496218;NR_046618 Hs.131282 RP11-53D5.1 APPROVED ncrna ENSG00000242370 HGNC:40316 PREDICTED 6481289 KCNAB1-AS2 KCNAB1 antisense RNA 2 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 155933349 155945672 - 156215560 156227883 - 8554872 100874083 ABBA01058840;AC091607;AI792872;AMYH02007972;HG496217;NR_046617 Hs.603823 RP11-118D22.4 APPROVED ncrna ENSG00000240596 HGNC:40315 PREDICTED 1342945 KCNA3 potassium voltage-gated channel, shaker-related subfamily, member 3 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 109461411 109464756 - 111196182 111217655 - 110653560 110675033 - 1580863;6480464 10428084;10479680;12150982;12435606;12477932;12604782;12632187;12807917;12850541;12909584;12944270;1373731;14745040;1547020;15489334;15632141;16043714;16317062;16344560;16382104;16729292;17088564;17160583;17242956;17579055;17582781;17854350;17878353;18218624;18611390;18818304;19104661;19295169;19371328;19409928;19465885;19489042;19574640;19590190;19712592;19841189;19850126;1986382;19959227;19961728;20060838;20114030;20371822;20601376;20603149;20798505;20865378;20884640;21087602;21220411;21586699;21726550;21834013;22045429;22110135;22134923;22169811;22192444;22258405;22360360;22378744;22505724;2251283;22547057;22931594;22952817;23099443;23300077;23335746;23382885;24055377;24114469;7477295;7829094;8938729;9341123 3738 P22001;Q6P2D3 AA811374;ABBA01068393;AK314009;AL365361;AMYH02001726;BC035059;BC064595;BM995500;CA438434;CH471122;DB086905;HG492418;HY035404;L23499;M38217;M55515;M85217;NM_002232;NR_109845;NR_109846 AAA36425;AAA59457;AAB88073;AAC31761;AAH35059;AAH64595;ABM82589;ABM85776;BAG36720;EAW56457;NP_002223;P22001 Hs.169948;Hs.619197;Hs.628223 1740799;1768939;2170404 D1S3253;D1S3456;SHGC-75313 HGK5;HLK3;HPCN3;HUKIII;KV1.3;MK3;PCN3;RP11-284N8.3 OTTHUMP00000032397;potassium channel 3;potassium voltage-gated channel subfamily A member 3;type n potassium channel;voltage-gated K(+) channel HuKIII;voltage-gated potassium channel protein Kv1.3;voltage-gated potassium channel subunit Kv1.3 APPROVED protein-coding ENSG00000177272 HGNC:6221 15937 176263 REVIEWED 1354203 KCNAB2 potassium voltage-gated channel, shaker-related subfamily, beta member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010] 1 1 1 p36.3 5201212 5275339 + 6052358 6161253 + 5992298 6101193 + 1580863;6480464;8554872 10428084;10477520;10624965;12431995;12477932;12893943;14702039;15489334;15592455;16344560;16710414;16713569;19953087;21139048;21890473;22505724;23264583;23390957;24332808;24816145;7649300;8001150;8636142;8838324;9760292 8514 B2R776;K7EIR5;K7EKU4;Q13303;Q2YD85;Q5TG78;Q5TG80;Q5TG81;Q5TG84 ABBA01035433;ABBA01035434;ABBA01035435;AF029749;AF044253;AK124696;AK131252;AK289819;AK290044;AK312395;AK312871;AK315811;AK315858;AL035406;AMYH02000166;AMYH02000167;AMYH02000168;AW327942;BC110351;BC126424;BC130413;BI907219;CH471130;CR542264;CR542287;CS252321;CS252323;DA340179;NM_001199860;NM_001199861;NM_001199862;NM_001199863;NM_003636;NM_172130;U33429;XM_005263511;XM_005263512;XM_005263513;XM_005263514 AAB84170;AAB99859;AAC50955;AAI10352;AAI26425;AAI30414;ADR82976;BAD18431;BAF82508;BAF82733;BAF98702;BAF98749;BAG35312;BAG35723;BAG54071;CAG47060;CAG47082;CAJ58415;CAJ58416;EAW71512;EAW71513;EAW71514;EAW71515;NP_001186789;NP_001186790;NP_001186791;NP_001186792;NP_003627;NP_742128;Q13303;XP_005263568;XP_005263569;XP_005263570;XP_005263571 Hs.440497;Hs.735032 1769428;1797768;1856271;2154730;2158377 G16215;G34855;KCNAB2_2542;SHGC-74145;SHGC-74152 AKR6A5;HKvbeta2;HKvbeta2.1;HKvbeta2.2;KCNA2B;KV-BETA-2;MGC117289 K(+) channel subunit beta-2;K+ channel beta-2 subunit;OTTHUMP00000000874;OTTHUMP00000000875;OTTHUMP00000000877;OTTHUMP00000000878;OTTHUMP00000000885;potassium channel shaker chain beta 2;voltage-gated potassium channel subunit beta-2 APPROVED protein-coding ENSG00000069424 HGNC:6229 03090 601142 REVIEWED 732211 KCNB1 potassium voltage-gated channel, Shab-related subfamily, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008] 20 20 20 q13.2 44693122 44803814 - 47988505 48099181 - 49368409 49483961 - 1580863;2311121;6480464;8554872 12830383 10484328;10551266;10921884;11780052;11852086;12021261;12060745;12403834;12477932;12560340;12615930;15024041;15353504;15827117;16008572;16382104;16880266;18212012;18690023;19074135;19223394;19265782;19454037;19717445;19953087;20379614;20547671;20566856;20709754;21095721;21455829;22106938;22411134;22442077;22560931;23251661;23431371;24086760;24597762;7774931;8081723;8670833;8980147;9362476 3745 Q14721 ABBA01052745;AF026005;AL035685;AMYH02037211;AMYH02037212;BC110572;BC110573;CH471077;KF456931;L02840;NM_004975;X68302;XM_006723784 AAA36156;AAB88808;AAI10573;AAI10574;AAI56167;AAI72466;CAA48374;EAW75656;NP_004966;Q14721;XP_006723847 Hs.84244 1671371;1691356;1796168;2156238;2166717;2174777 AL031795;D20S1096;D20S809;G01535;KCNB1_1313;SHGC-31067 DRK1;KV2.1;h-DRK1 OTTHUMP00000031697;delayed rectifier potassium channel 1;delayed rectifier potassium channel Kv2.1;h-DRK1 K(+) channel;potassium channel protein DRK1;potassium voltage-gated channel subfamily B member 1;voltage-gated potassium channel subunit Kv2.1 APPROVED protein-coding HGNC:6231 08983 600397 REVIEWED 732631 KCNB2 potassium voltage-gated channel, Shab-related subfamily, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008] 8 8 8 q13.2 69452496 69847725 + 73449626 73850584 + 72537391 72938581 + 1580863;6480464;8554872 14988243;16382104;17474147;17903301;18676988;19010793;19074135;20125193;20379614;22412388;22422395;23953852;8670833;9612272 9312 Q92953 ABBA01041958;ABBA01041959;AC011131;AC013562;AC022881;AC022893;AC090735;AF338730;AF450111;AMYH02018195;AMYH02018196;AMYH02018197;AMYH02018198;AMYH02018199;AMYH02018200;AMYH02018201;AMYH02018202;AMYH02018203;CH471068;NM_004770;U69962;XM_006716483 AAB08433;AAI40388;AAK16585;AAP46292;EAW86988;NP_004761;Q92953;XP_006716546 Hs.661102 1336793;1649611;1658484;1662380;1687201;1717645;1735836;1754343;1755079;1755947;1772767;1796170;2150682;2177306 D22S443;D8S1434E;D8S1776;KCNB2_877;NIB1578;RH122127;RH71254;RH79592;SHGC-132369;SHGC-142013;SHGC-142768;SHGC-2410;SHGC-31224;WI-19811 KV2.2 OTTHUMP00000226831;delayed rectifier potassium channel protein;potassium channel Kv2.2;potassium voltage gated channel, shab-related subfamily, member 2;potassium voltage-gated channel subfamily B member 2;voltage-gated potassium channel subunit Kv2.2 APPROVED protein-coding ENSG00000182674 HGNC:6232 09666 607738 REVIEWED 1350747 KCNAB3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012] 17 17 17 p13.1 7853593 7860422 - 7825177 7833180 - 7921859 7929862 - 1580863;6480464 12477932;15489334;17081983;19953087;21832049;22505724;7649300;8889548;9857044 9196 I3L0P1;I3L4I8;O43448 AA716741;ABBA01054890;AC104581;AF016411;AI090408;AK309378;AK309807;AL079287;AMYH02032918;BC096232;BC096233;BC096234;BC099634;BM727261;BQ277958;CF455307;CH471108;NM_004732;XM_005256849 AAB92499;AAH96232;AAH96234;AAH99634;EAW90112;NP_004723;O43448;XP_005256906 Hs.435074 1646154;1664186;1856326 SHGC-31370;SHGC-31899;WI-18598 AKR6A9;FLJ99419;KCNA3.1B;KCNA3B;KV-BETA-3;MGC116886 K(+) channel subunit beta-3;K+ channel beta-3 subunit;OTTHUMP00000135310;potassium channel, voltage-dependent, beta-3 subunit;voltage-gated potassium channel subunit beta-3 APPROVED protein-coding ENSG00000170049 HGNC:6230 04983 604111 REVIEWED 733063 KCNC3 potassium voltage-gated channel, Shaw-related subfamily, member 3 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014] 19 19 19 q13.33 47869096 47882964 - 50818765 50832634 - 50314937 50329377 - 1580863;6480464;7240710;8554872;8699517 10712820;10820125;15148151;16382104;16501573;1740329;17549794;18592334;19953606;20301317;20301404;21479265;21543613;21827913;22289912;23293936;23734863;23912307;24116147;24250222;8111118;8917565 3748 E7ETH1;E9PQY4;Q14003;Q6ZSE9 AB208930;ABBA01068329;ABBA01068330;ABBA01068331;AC008655;AF055989;AK127492;AMYH02036346;AMYH02036347;CH471135;NG_008134;NM_004977;NR_110912;XM_006723203;Z11585 AAC24118;AAI56303;BAC87004;BAD92167;CAA77671;EAW71844;NP_004968;Q14003;XP_006723266 Hs.467146 1339709;1340062;5124446 D19S219;D19S553;RH27338 KSHIIID;KV3.3;SCA13 OTTHUMP00000042078;OTTHUMP00000232123;Shaw-related voltage-gated potassium channel protein 3;potassium voltage-gated channel subfamily C member 3;voltage-gated potassium channel protein KV3.3;voltage-gated potassium channel subunit Kv3.3 APPROVED protein-coding ENSG00000131398 HGNC:6235 08886 176264;605259 REVIEWED 6481439 KCNC4-AS1 KCNC4 antisense RNA 1 (head to head) 1 p13.3 110208450 110209987 - 100873974 ABBA01068388;AL137790;AMYH02001721;BX089534;NR_046546 Hs.130515 APPROVED ncrna HGNC:39958 VALIDATED 1607081 KCNAB1 potassium voltage-gated channel, shaker-related subfamily, beta member 1 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes three distinct isoforms which are encoded by three alternatively spliced transcript variants of this gene. These three isoforms are beta subunits, which form heteromultimeric complex with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Jul 2008] 3 3 3 q26.1 154260612 154680263 + 155838337 156256927 + 156120548 156539138 + 6480464;8554872 10477520;10756096;11401852;12477932;14592966;14702039;15489334;16344560;17207965;17620599;17903295;17913586;18987637;19322201;19953087;20379614;20800603;21333500;21832049;22547057;23602568;7499366;7603988;7649300;7890032;7890764;8001150;8636142;8838324;8938711;9341123;9857044 7881 B7Z435;B7Z8E5;C9JBV8;C9JQ60;F8W6W4;H7C4S9;Q14722 ABBA01058840;AC022013;AC069413;AC084036;AC091607;AC092927;AC112772;AI344124;AK057059;AK127240;AK292693;AK292999;AK296728;AK303287;AMYH02007969;AMYH02007970;AMYH02007971;AMYH02007972;AMYH02007973;AU076410;AY780786;BC043166;BQ721076;CH471052;DA331209;DA408045;DC410397;L39833;L47665;NM_003471;NM_172159;NM_172160;U16953;U17968;U33428;XM_005247753;XM_005247754 AAC37573;AAC41926;AAC50113;AAC50122;AAC50953;AAH43166;AAV98356;ADQ33020;BAF85382;BAF85688;BAG51856;BAG54461;BAH12421;BAH13931;EAW78732;EAW78733;EAW78734;EAW78735;EAW78736;NP_003462;NP_751891;NP_751892;Q14722;XP_005247810;XP_005247811 Hs.654519;Hs.703187 1336685;1726413;1754839;1758415;1796166;1847125;2119940;2127025;7184029 D3S1275;G62507;KCNAB1_875;SHGC-141756;SHGC-148274;SHGC-31546;SHGC-32084;STS-N40948 AKR6A3;KCNA1B;KV-BETA-1;Kvb1.3;hKvBeta3;hKvb3 K(+) channel subunit beta-1;OTTHUMP00000213051;OTTHUMP00000213124;OTTHUMP00000213125;OTTHUMP00000213126;OTTHUMP00000213127;potassium channel beta 3 chain;potassium channel beta3 subunit;potassium channel shaker chain beta 1a;potassium voltage-gated channel beta subunit;voltage-gated potassium channel beta-1 subunit;voltage-gated potassium channel subunit beta-1 APPROVED protein-coding ENSG00000169282 HGNC:6228 03089 601141 REVIEWED 1320074 KCNA7 potassium voltage-gated channel, shaker-related subfamily, member 7 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46437882 46443410 - 49570675 49576198 - 49067418 49072941 - 1580863;6480464 11368907;11896454;12477932;15639836;16382104;22438204;9488722 3743 Q96RP8 ABBA01032946;AC008687;AC245081;AF315818;AJ310479;AY779768;BC140906;CH471177;NM_031886 AAI40907;AAK63002;AAX11186;CAC29065;EAW52444;NP_114092;Q96RP8 Hs.306973 1796164;5020274;5022651;5037552 D11S2921;D8S2279;KCNA7_873;L18441 HAK6;KV1.7 potassium voltage-gated channel subfamily A member 7;voltage-dependent potassium channel Kv1.7;voltage-gated potassium channel KCNA7;voltage-gated potassium channel subunit Kv1.7 APPROVED protein-coding ENSG00000104848 HGNC:6226 01445 176268 REVIEWED 1348258 KCNC4 potassium voltage-gated channel, Shaw-related subfamily, member 4 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010] 1 1 1 p21 109000516 109023855 + 110753336 110776674 + 110210714 110282631 + 1580863;6480464;8554872 12477932;15485486;15489334;16341674;16344560;16382104;16449802;16710414;1740329;1920536;20093253;20378681;20593490;20707712;21912965;22473424;23443853;7993631;9649584 3749 H7BZ66;Q03721 ABBA01068388;ABBA01068389;AI369490;AK125567;AK310193;AL137790;AMYH02001721;BC025377;BC101769;BF969982;BM765446;BX098184;BX537638;CH471122;CK823243;DA111555;DA404087;DA902474;DA936036;M64676;NM_001039574;NM_004978;NR_036437;XM_006710625;XM_006710626;XM_006710627 AAA57263;AAI01770;EAW56433;EAW56434;EAW56435;EAW56436;NP_001034663;NP_004969;Q03721;XP_006710688;XP_006710689;XP_006710690 Hs.153521 1648770;1655381;1696468;1709592;1724297;1778708;1796174;5124446 Cda0qh11;KCNC4_1814;RH120403;RH27338;RH66840;SHGC-75309;SHGC-79790;SHGC-85156 C1orf30;HKSHIIIC;KSHIIIC;KV3.4;MGC126818 K+ channel subunit;OTTHUMP00000012717;OTTHUMP00000195596;OTTHUMP00000229419;OTTHUMP00000233377;potassium voltage-gated channel subfamily C member 4;voltage-gated potassium channel subunit KV3.4 APPROVED protein-coding HGNC:6236 08887 176265 REVIEWED 1347714 KCND1 potassium voltage-gated channel, Shal-related subfamily, member 1 This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction. [provided by RefSeq, Aug 2013] X X X p11.23 52835266 52844878 + 48818639 48828251 - 48961378 48971844 - 724442;1581430;6480464 10729221;16141270 10228180;10479680;11423117;12349911;12477932;14702039;15454437;15489334;16382104;17687001;19401188;19448731;20930388;25003238 3750 A6NEF1;H7C3V4;Q9NSA2 AB021865;ABBA01046088;ABBA01046089;ABBA01046090;AC233294;AF166003;AF166006;AF207550;AJ005898;AK094431;AK315092;AMYH02039314;AMYH02039315;BC045659;CH471224;NG_012515;NM_004979 AAF65516;AAF65617;AAH45659;BAA96454;BAG37557;BAG52865;CAA06755;EAW50720;EAW50721;NP_004970;Q9NSA2 Hs.55276 1666591;1680819;1689492;1796176 KCND1_1329;RH91735;RH93281;STS-Z38762 KV4.1 OTTHUMP00000025805;OTTHUMP00000025806;potassium voltage-gated channel subfamily D member 1;shal-type potassium channel;voltage-gated potassium channel Kv4.1;voltage-gated potassium channel subunit Kv4.1 APPROVED protein-coding ENSG00000102057 HGNC:6237 02233 300281 REVIEWED 736950 KCNC2 potassium voltage-gated channel, Shaw-related subfamily, member 2 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 12 12 12 q14.1 75101336 75270876 - 75433858 75603584 - 75040078 75209804 - 1580863;6480464;8554872 12477932;12805291;14702039;16344560;16382104;19332619;21912965;23475819;8111118 3747 Q96PR1 AB209994;ABBA01026470;ABBA01026471;AC073525;AC091534;AC130405;AF268896;AF268897;AK094720;AK126235;AK294269;AK309245;AMYH02026772;AMYH02026773;AY118169;AY243473;BC093635;BC111991;CH471054;DA218546;DC323864;KF455668;KF455672;KF455675;NM_001260497;NM_001260498;NM_001260499;NM_139136;NM_139137;NM_153748;XM_005268854;XM_005268855;XM_006719382;XM_006719383;XM_006719384;XM_006719385;XM_006719386;XM_006719387;XM_006719388;XM_006719389;XM_006719390 AAH93635;AAI11992;AAL27272;AAL27273;AAM81577;AAO89503;BAC04407;BAE06076;BAH11717;EAW97287;EAW97288;EAW97289;EAW97290;EAW97291;EAW97292;EAW97293;EAW97294;NP_001247426;NP_001247427;NP_001247428;NP_631874;NP_631875;NP_715624;Q96PR1;XP_005268911;XP_005268912;XP_006719445;XP_006719446;XP_006719447;XP_006719448;XP_006719449;XP_006719450;XP_006719451;XP_006719452;XP_006719453 Hs.27214;Hs.741918 1655875;1709938;1736276;1797770;2169316;2177852 A004A47;D12S1231E;HSC2JH102;KCNC2_2525;SGC30445;SHGC-82234 KV3.2;MGC138196 OTTHUMP00000241942;OTTHUMP00000241943;OTTHUMP00000241944;OTTHUMP00000241945;OTTHUMP00000241946;OTTHUMP00000241947;potassium voltage-gated channel subfamily C member 2;voltage-gated potassium channel Kv3.2 APPROVED protein-coding ENSG00000166006 HGNC:6234 08883 176256 REVIEWED 6481345 KCND3-AS1 KCND3 antisense RNA 1 p13.2 16344560 100873995 AA909267;AI910896;AL390070;BX098424;DB096999 Hs.535274 APPROVED ncrna HGNC:40317 6481136 KCND3-IT1 KCND3 intronic transcript 1 (non-protein coding) 1 p13.2 111853762 111856905 - 100874295 ABBA01068399;AL450997;AMYH02001730;BX096614;NR_046783 Hs.738190 ncrna HGNC:41350 VALIDATED 68574 KCND2 potassium voltage-gated channel, Shal-related subfamily, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008] 7 7 7 q31 114723245 115199902 + 119913689 120390387 + 120273635 120750333 + 1581430;1580863;6480464;8554872 16141270 10470851;10479680;10551270;10676964;10729221;10942109;11102480;11287421;11606724;11847232;12435606;12451113;12477932;12493773;12690205;12853948;14559911;14623880;14980201;14980207;15184042;15358149;15454437;15489334;15563876;15991246;16260497;16382104;16820361;16934482;17102134;17981906;18364354;18463498;19171772;19213956;19361449;19401682;19453640;19596445;20031566;20379614;20498229;20709747;22122031;22488850;22610502;23225603;23692269;24037343;24225951;24811166;25003238;9843794 3751 A4D0V9;H7C445;Q75LS7;Q9NZV8 AB028967;ABBA01057766;ABBA01057767;ABBA01057768;ABBA01057769;ABBA01057770;AC004888;AC004946;AC006332;AC007026;AC073884;AC092020;AF121104;AF142568;AF166007;AF166008;AJ010969;AMYH02016656;AMYH02016657;AMYH02016658;AMYH02016659;BC110449;BC110450;CH236947;CH471070;KF458580;KF458581;NG_034230;NM_012281;XM_005250322 AAC83405;AAD22053;AAD52159;AAF65618;AAI10450;AAI10451;AAS07530;BAA82996;CAB56841;EAL24350;EAW83541;NP_036413;Q9NZV8;XP_005250379 Hs.654739 1338795;1653126;1675057;1678733;1708076;1711754;1723741;1727417;1750153;1771594;1796178;1857044;2127273;2133881;2143940;2147203;2154345;2169359;2174203;2177266;2184101;5016055;7186971 A004D07;D7S1436;D7S1652;D7S1915;D7S2093E;D7S2487;D7S2892;D7S99;G31102;G49386;G63116;GDB:1317200;GDB:3755049;GDB:6028511;KCND2_881;MDB1071;RH118760;RH75415;SHGC-112257;SHGC-81435;WI-18408;WI-19785 KIAA1044;KV4.2;MGC119702;MGC119703;RK5 OTTHUMP00000211253;potassium voltage-gated channel subfamily D member 2;voltage-gated potassium channel Kv4.2;voltage-gated potassium channel subunit Kv4.2;voltage-sensitive potassium channel APPROVED protein-coding ENSG00000184408 HGNC:6238 09254 605410 REVIEWED 1347000 KCNE3 potassium voltage-gated channel, Isk-related family, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 71472396 71485109 - 74165886 74178600 - 74454841 74467555 - 633041;1600040;1580863;6480464;7240710;8554872;8699517 10219239;11207363 10646604;11104781;11680623;11874988;11956246;12414843;12477932;14504341;15037716;15212652;15489334;16303284;16308347;16341674;16374062;16449802;16782062;17495071;18209471;19077539;19122847;19306396;19913121;19961415;20034061;20040519;20301690;20628086;21899751;21900206;22144915;22190306;22987075;8889548 10008 E9PJQ7;E9PJV9;E9PN03;Q2N1I1;Q6IAE6;Q9Y6H6 ABBA01017487;ABBA01017488;AF076531;AF302494;AK311876;AMYH02025106;AP001372;BC032235;BC110612;BC113743;BM757131;CD709836;CH471076;CK301015;CR457209;CR936625;DQ192291;DQ192292;DQ784805;DR006135;NG_011833;NM_005472 AAD28089;AAG16255;AAI10613;AAI13744;ABB00304;ABB00305;ABM81941;ABQ01240;BAG34817;CAG33490;CAI56768;EAW74938;NP_005463;Q9Y6H6 Hs.523899 1666199;1708452;1723127;1796182;2162579;5015619 D11S3114;KCNE3_883;RH123748;RH67902;SHGC-36243;SHGC-85010 DKFZp781H21101;HOKPP;HYPP;MGC102685;MGC129924;MiRP2 OTTHUMP00000230582;OTTHUMP00000230585;OTTHUMP00000230586;cardiac voltage-gated potassium channel accessory subunit;minK-related peptide 2;minimum potassium ion channel-related peptide 2;potassium channel subunit beta MiRP2;potassium voltage-gated channel subfamily E member 3;voltage-gated K+ channel subunit MIRP2 APPROVED protein-coding ENSG00000175538 HGNC:6243 07256 604433;613119 REVIEWED 68576 KCND3 potassium voltage-gated channel, Shal-related subfamily, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 110565074 110778378 - 112318444 112532147 - 111775809 111989530 - 1581430;6480464;7240710;8554872;8699517;8847123 16141270;23747723 10200233;10729221;10942109;12297301;12477932;12928444;14645239;14980207;15498806;15563876;15578212;15890703;16382104;16710414;16782062;17506992;17725712;18052691;18620005;18678642;19213956;19927631;20301317;20301690;20354865;20379614;20550899;20649599;21129448;21349352;21422811;22023388;22198508;22387313;22457051;22589738;22610502;22683750;23036686;23280837;23280838;23291429;23400760;23963749;24845726;8734615;9843794 3752 Q9UK17 ABBA01068399;ABBA01068400;AF048712;AF048713;AF120491;AF137071;AF166009;AF166011;AF187963;AF187964;AF205856;AF205857;AL049557;AL390070;AL450997;AL512665;AMYH02001730;AMYH02001731;BC113475;BC113477;BC143390;CH471122;KF455012;NG_032011;NM_004980;NM_172198;XM_005270851;XM_006710629;XM_006710630;XM_006710631;XM_006710632 AAC05121;AAC05122;AAD38898;AAF01044;AAF01045;AAF20924;AAF20925;AAF68177;AAF68178;AAI13476;AAI13478;AAI43391;ADR83090;EAW56510;EAW56511;EAW56512;NP_004971;NP_751948;Q9UK17;XP_005270908;XP_006710692;XP_006710693;XP_006710694;XP_006710695 Hs.666367 1336363;1340961;1648762;1667331;1692554;1710980;1717185;1729225;1729914;1740529;1760725;1767273;2109443;2123396;2129878;2148659;2179414;7184654;7185565 AL009441;AL009644;AL009679;AL009944;AL033924;D1S175;D1S187;D1S3009;D1S3047;D1S3159;D1S502;G16221;KCND3_2907;M98989;RH121515;SHGC-144251;SHGC-84861 KCND3L;KCND3S;KSHIVB;KV4.3;MGC142035;MGC142037;SCA19;SCA22 OTTHUMP00000013771;OTTHUMP00000013772;potassium ionic channel Kv4.3;potassium voltage-gated channel subfamily D member 3;sha1-related potassium channel Kv4.3;spinocerebellar ataxia 22;voltage-gated K+ channel;voltage-gated potassium channel Kv4.3;voltage-gated potassium channel subunit Kv4.3 APPROVED protein-coding ENSG00000171385 HGNC:6239 16104 605411;607346 REVIEWED 1346142 KCNE4 potassium voltage-gated channel, Isk-related family, member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008] 2 2 2 q36.1 217682314 217685808 + 223916648 223920355 + 223051930 223055637 + 633041;1580863;6480464 10219239 12096056;12477932;12670483;12944270;15342556;15489334;15707997;15815621;16303284;16563243;17016049;18029348;18279388;18463315;19029186;19684603;19773357;20498229;20966902;21118809;23866632;8889548 23704 A5H1P5;Q8WWG9 ABBA01023805;AC017014;AK294423;AK313203;AMYH02005872;AY065987;BC014429;BM662449;BP348485;BP359441;BP362695;CH471063;DQ192293;DQ784806;NM_080671 AAH14429;AAL49979;AAX93228;ABB00306;ABM83442;ABQ01241;ABW03499;BAG36019;BAH11761;EAW70810;NP_542402;Q8WWG9 Hs.348522 1797772 KCNE4_2454 MGC20353;MIRP3 MINK-related peptide 3;OTTHUMP00000203809;cardiac voltage-gated potassium channel accessory subunit 4;minimum potassium ion channel-related peptide 3;potassium channel subunit beta MiRP3;potassium voltage-gated channel subfamily E member 4 APPROVED protein-coding ENSG00000152049 HGNC:6244 09689 607775 VALIDATED 1345038 KCNE1L KCNE1-like Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a membrane protein which has sequence similarity to the KCNE1 gene product, a member of the potassium channel, voltage-gated, isk-related subfamily. This intronless gene is deleted in AMME contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome. [provided by RefSeq, Jul 2008] X X X q22.3 109346567 109348031 - 108866929 108868393 - 109623700 109625164 - 1580863;6480464 10493825;12324418;12477932;15193977;15368194;15489334;16054468;16303284;18313602;20301690;21493962;21730298;21832049;21985337;8125298 23630 Q5JWV7;Q9UJ90 ABBA01043484;AF086499;AJ012743;AK223306;AK314923;AL118496;AMYH02040225;BC035330;CH471120;DQ192294;DQ784807;EF535525;NG_013241;NM_012282 AAH35330;ABB00307;ABM82213;ABM85397;ABM87648;ABM87655;ABM87658;ABM87663;ABQ01242;ABQ08564;BAD97026;BAG37431;CAB58359;EAX02676;NP_036414;Q9UJ90 Hs.522753 2148465;2217512 KCNE1L_456.2;WI-17685 KCNE5 AMME syndrome candidate gene 2 protein;AMMECR2 protein;OTTHUMP00000023845;cardiac voltage-gated potassium channel accessory subunit 5;potassium voltage-gated channel subfamily E member 1-like protein;potassium voltage-gated channel, Isk-related family, member 1-like APPROVED protein-coding ENSG00000176076 HGNC:6241 02268 300328 REVIEWED 735852 KCNF1 potassium voltage-gated channel, subfamily F, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq, Jul 2008] 2 2 2 p25 10967196 10969484 + 11052063 11054351 + 10911937 10914225 + 1580863;6480464 12060745;12477932;15489334;16382104;9434767 3754 Q9H3M0 ABBA01015634;AC019041;AF029780;AF033382;AMYH02003274;BC026110;CH471053;NM_002236 AAC05597;AAG43055;AAH26110;AAX81991;ABW03736;EAX00946;NP_002227;Q9H3M0 Hs.23735 1739995;1778099;1854956;2129074 A005K01;D2S2129;RH78053;RH79190 IK8;KCNF;KV5.1;MGC33316;kH1 OTTHUMP00000147594;potassium channel KH1;potassium channel Kv5.1;potassium voltage-gated channel subfamily F member 1;voltage-gated potassium channel subunit Kv5.1 APPROVED protein-coding ENSG00000162975 HGNC:6246 04808 603787 REVIEWED 731917 KCNE2 potassium voltage-gated channel, Isk-related family, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008] 21 21 21 q22.12 20935893 20943010 + 35736323 35743440 + 34364024 34371141 + 633041;1580501;1580502;1580863;6480464;7240710;7242918;7243942;8554872;8699517 10219239;15368194;15840476;19267230;20381460 10830953;11034315;11101505;11278781;11289718;11313306;11329013;11874988;12185453;12477932;12856183;12923204;14661677;14760488;15051636;15066947;15176425;15489334;15746444;16303284;16414944;16487223;16487842;16631607;16780588;16818214;17210839;17255364;17275752;17310097;17534376;17676362;17895974;17905336;18221016;18501111;18676988;18752142;19077539;19149796;19198609;19219384;19322600;19372218;19716085;19913121;20042375;20108749;20298200;20301308;20386770;20400777;20625512;20628086;20738937;20881960;20920651;20971364;21063070;21063774;21087668;21946350;22166675;22180649;23192594;23483772;23504710;23714088;23890619;24262325;24827085 9992 Q2N1I3;Q9Y6J6 ABBA01057366;AF071002;AF086086;AF302095;AMYH02037753;AP000320;BC093892;BC112087;BG221966;CH471079;DQ192290;DQ784804;NG_008804;NM_172201 AAD28086;AAG13416;AAH93892;AAI12088;ABB00303;ABQ01239;EAX09790;EAX09791;NP_751951;Q9Y6J6 Hs.551521;Hs.736062 1796180;2161525;5021872;5037552 D8S2279;KCNE2_1321;SHGC-87567;sY3084 ATFB4;LQT5;LQT6;MGC138292;MIRP1 OTTHUMP00000108568;cardiac voltage-gated potassium channel accessory subunit 2;minK-related peptide 1;minK-related peptide-1;minimum potassium ion channel-related peptide 1;potassium channel subunit beta MiRP1;potassium channel subunit, MiRP1;potassium voltage-gated channel subfamily E member 2;voltage-gated K+ channel subunit MIRP1 APPROVED protein-coding HGNC:6242 04813 603796;611493;613693 REVIEWED 735437 KCNC1 potassium voltage-gated channel, Shaw-related subfamily, member 1 This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014] 11 11 11 p15 17890030 17937113 + 17757495 17804602 + 17735948 17783055 + 1580863;6480464 12060745;12091563;12477932;12805291;1400413;1432046;14702039;16344560;16382104;19213956;19332619;19913121;20628086;21106837;21912965;21945320;22105078;22387313;23576435;24143882;7559593;8449507 3746 P48547;Q3KNS8 ABBA01061061;ABBA01061062;AC124056;AC124078;AC124301;AI201688;AK123157;AK124243;AK125480;AMYH02024384;AW452561;BC107129;CH471064;DA495469;DN993192;L00621;M96747;NM_001112741;NM_004976;S56770 AAA59458;AAB25764;AAI07130;EAW68425;EAW68426;NP_001106212;NP_004967;P48547 Hs.552896 1336735;1342266;1342280;1775432;1796172;2158465;5124446 D11S1888;D11S2313E;D11S4130;D11S4138;KCNC1_879;RH15955;RH27338 FLJ41162;FLJ42249;FLJ43491;KV3.1;KV4;MGC129855;NGK2 OTTHUMP00000232718;OTTHUMP00000232719;potassium voltage-gated channel subfamily C member 1;voltage-gated potassium channel protein KV3.1;voltage-gated potassium channel subunit Kv3.1;voltage-gated potassium channel subunit Kv4 APPROVED protein-coding ENSG00000129159 HGNC:6233 15936 176258 REVIEWED 6481125 KCNH1-IT1 KCNH1 intronic transcript 1 (non-protein coding) 1 q32.2 211132281 211133422 - 100874296 ABBA01048194;AC092017;AMYH02002616;BU621567;XR_425096;XR_426895;XR_431338 Hs.737764 ncrna HGNC:41351 MODEL 68584 KCNH1 potassium voltage-gated channel, subfamily H (eag-related), member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 1 q32.2 184078007 184534030 - 210851657 211307457 - 210678315 211134115 - 1580863;6480464;8554872 10523298;10880439;11834728;11943152;12060745;12477932;15466192;15548764;16382104;16478480;16537547;17022811;17360457;17451210;17520698;17873312;18080766;18222922;18650019;18927085;19172261;19932096;20083228;20105281;20116193;20126398;20201926;20379614;20523736;20708613;20933057;21138547;21315112;21320466;21508374;21559285;21887469;22061963;22248279;22310694;22357737;22466864;22495877;22778627;22841712;22930803;22984610;22999387;23144454;23381795;23413122;23470693;23569431;24062569;24336491;8159766;9722534;9738473 3756 O95259 ABBA01048194;ABBA01048195;ABBA01048196;ABBA01048197;AC092017;AC096636;AC099755;AF078741;AF078742;AJ001366;AK127526;AL590132;AL603791;AMYH02002612;AMYH02002613;AMYH02002614;AMYH02002615;AMYH02002616;BC113709;BC143599;CH471100;NG_029777;NM_002238;NM_172362 AAC68668;AAC68669;AAI13710;AAI43600;CAA04700;EAW93424;EAW93425;NP_002229;NP_758872;O95259 Hs.553187 1334670;1341025;1692892;1696220;1700762;1709460;1725263;1760993;1765897;1777829;1796184;1878266;2156670;2161037;7187006 AL009671;AL009751;AL010063;AL034158;D1S2812;D1S414;KCNH1_338;REN9820;RH104006;RH120086;SHGC-144939;SHGC-149312;SHGC-78765;SHGC-81779 EAG;EAG1;Kv10.1;MGC142269;h-eag;hEAG1 EAG channel 1;OTTHUMP00000034451;OTTHUMP00000034569;ether-a-go-go potassium channel 1;ether-a-go-go, Drosophila, homolog of;potassium channel, voltage-gated, subfamily H, member 1;potassium voltage-gated channel subfamily H member 1;voltage-gated potassium channel subunit Kv10.1 APPROVED protein-coding ENSG00000143473 HGNC:6250 04492 603305 REVIEWED 1604067 KCNG1 potassium voltage-gated channel, subfamily G, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008] 20 20 20 q13 46324438 46343920 - 49620193 49639675 - 51003656 51023138 - 6480464 11780052;12477932;15146197;15489334;16344560;16382104;18029348;19460752;21906983;22082156;22939624;23918034;8980147;9434767 3755 A2A2I8;A2A2I9;Q5JXL4;Q86Y85;Q9UIX4 ABBA01052792;AF033383;AK290689;AL050404;AL121785;AMYH02037250;AW162513;BC006367;BC046629;BG029104;CH471077;CN301212;CN480356;DA576272;DA580190;DA684016;KF456938;NM_002237;XM_006723785;XM_006723786 AAC05635;AAH06367;AAH46629;BAF83378;EAW75605;NP_002228;Q9UIX4;XP_006723848;XP_006723849 Hs.118695;Hs.735151 2144881 RH48820 K13;KCNG;KV6.1;MGC12878;kH2 OTTHUMP00000043416;OTTHUMP00000165779;potassium channel KH2;potassium channel Kv6.1;potassium voltage-gated channel subfamily G member 1;voltage-gated potassium channel subunit Kv6.1 APPROVED protein-coding ENSG00000026559 HGNC:6248 04809 603788 REVIEWED 1318394 KCNG4 potassium voltage-gated channel, subfamily G, member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008] 16 16 16 q24.1 68557618 68575161 - 84254741 84273356 - 84221135 84239750 - 1580863;6480464;8554872 12060745;12477932;15489334;16096342;16382104;19074135;19717558;20379614;22589738;8889548 93107 Q32MC1;Q547S7;Q8TDN1 ABBA01016918;AC009123;AF348984;AF450108;AMYH02032562;AMYH02032563;BC008969;BC109203;BQ185567;CH471114;NM_172347 AAH08969;AAI09204;AAL83911;AAP46289;ABM84180;ABM87582;EAW95488;EAW95489;EAW95490;NP_758857;Q8TDN1 Hs.335877;Hs.560407;Hs.737415 1776010;2218556 KCNG4_4116;SHGC-8469 KV6.3;KV6.4;MGC129609;MGC4558 OTTHUMP00000174990;potassium voltage-gated channel subfamily G member 4;potassium voltage-gated channel, subfamily G, member 4, isoform 1;voltage-gated potassium channel Kv6.3;voltage-gated potassium channel subunit Kv6.4 APPROVED protein-coding HGNC:19697 16253 607603 REVIEWED 736969 KCNE1 potassium voltage-gated channel, Isk-related family, member 1 The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 21 21 21 q22.12 21018555 21083181 - 35790910 35884573 - 34446688 34512275 - 1580498;1580499;1580863;1580502;1642301;6480464;7242918;1580497;7240710;8554872;8699517 12228786;15389592;15840476;16497176;20381460;9445165 10400998;10493825;10830953;10973849;11101505;11104781;11289718;11299204;11692163;11697903;11714488;11799244;11874988;11891569;12084623;12477932;12634932;14527430;14661677;14702039;14760488;14761891;15051636;15176425;15489334;1553557;15698834;15746444;16132053;16155735;16266404;16303284;16308347;16344560;16374062;16414944;16487223;16487842;16563243;16610241;16631607;16780588;16818214;16823764;17016049;17065152;17141204;17165161;17210839;17227789;17275752;17289006;17310097;17341399;17384445;17534376;17545244;17626898;17646758;17892302;17895974;17905336;17980676;18079560;18157847;18279388;18398469;18426444;18441444;18504315;18611041;18674739;18757482;18803136;18931301;18956684;19019189;19114714;19131515;19139916;19149796;19156197;19202166;19218243;19219384;19305408;19305639;19322600;19340287;19372218;19521339;19523148;19660109;19695459;19716085;19860128;19907016;19913121;19940153;20034061;20062063;20108749;20117060;20139709;20185111;20215044;20298200;20301308;20301579;20386770;20400777;20424473;20479109;20494980;20553101;20628086;20920651;20962273;21063070;21063774;21070882;21149716;21212535;21231794;21244686;21576493;21676880;21691061;21730298;21811988;21854832;22085289;22100668;22250012;22471742;22908235;22999324;23020083;23129484;23224734;23237912;23324056;23359697;23504710;23650380;23714088;23874724;23890619;24142691;24439990;24561123;24827085;2730656;7622063;7828904;8432548;8899564;8900283;9020846;9230439;9312006;9328483;9354783;9354802 3753 A7LFK2;A7LFK4;A8MWV9;C7S316;P15382;Q6FHJ6 ABBA01057368;AF135188;AI720140;AK095442;AK304336;AK311384;AK313543;AMYH02037755;AP000323;AP000324;AP000325;AP000326;AY789479;AY789480;BC036452;BC046224;BC069055;CD370857;CH471079;CR541756;DA418828;DA806205;DB089177;DB214219;DB223354;DB230009;DB233067;DQ784803;EF514881;EF514882;EF514883;EU008568;EU008569;EU008570;KC877871;L28168;L33815;M26685;NG_009091;NM_000219;NM_001127668;NM_001127669;NM_001127670;NM_001270402;NM_001270403;NM_001270404;NM_001270405 AAA36129;AAA58418;AAA63905;AAD25096;AAH36452;AAH46224;AAX11417;AAX11418;ABQ01238;ABS31132;ABS31133;ABS31134;ABS84249;ABS84250;ABS84251;ADZ15784;BAG36319;BAG65181;CAG46556;EAX09783;NP_000210;NP_001121140;NP_001121141;NP_001121142;NP_001257331;NP_001257332;NP_001257333;NP_001257334;P15382 Hs.121495;Hs.745384 1670259;1674875;1680671;1682389;1742125;1745867;1748535;1759879;2176615;2217514;7185659 GDB:191985;GDB:679404;KCNE1_3108;RH38897;SHGC-1246;SHGC-170119;SHGC-51850;SHGC-6903;SHGC-87562;SHGC-87563 FLJ18426;FLJ38123;FLJ94103;ISK;JLNS;JLNS2;LQT2/5;LQT5;MGC33114;MinK IKs producing slow voltage-gated potassium channel subunit beta Mink;OTTHUMP00000108623;OTTHUMP00000108624;OTTHUMP00000108625;OTTHUMP00000108626;cardiac delayed rectifier potassium channel protein;delayed rectifier potassium channel subunit IsK;minimal potassium channel;potassium voltage-gated channel subfamily E member 1;potassium voltage-gated channel, Isk-related subfamily, member 1;voltage gated potassiun channel accessory subunit APPROVED protein-coding ENSG00000180509 HGNC:6240 01442 176261;612347;613695 REVIEWED 733984 KCNH3 potassium voltage-gated channel, subfamily H (eag-related), member 3 ENCODES a protein that exhibits phosphorelay sensor kinase activity (inferred); voltage-gated potassium channel activity (inferred); INVOLVED IN phosphorelay signal transduction system (inferred); potassium ion transport (inferred); regulation of ion transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH atrazine; barium(0); copper(2+) sulfate 12 12 12 q13 48727399 48746536 + 49932834 49952091 + 49539052 49558308 + 70783;1580863;6480464;8554872 10455180 10574462;12477932;12890647;16382104;19923296;20638388 23416 Q8N500;Q9ULD8 AB022696;AB033108;ABBA01031528;AC020612;AMYH02026447;BC033141;BC144254;BC150602;CH471111;NM_012284;XM_005268752;XM_005268753;XM_006719313 AAH33141;AAI50603;BAA83590;BAA86596;EAW58073;EAW58074;NP_036416;Q9ULD8;XP_005268809;XP_005268810;XP_006719376 Hs.64064 1658299;1797774;2108819;2118547 KCNH3_2115;MCRS1_9110;RH41888;STS-F09935 BEC1;ELK2;KIAA1282;Kv12.2 ELK channel 2;OTTHUMP00000241404;brain-specific eag-like channel 1;ether-a-go-go K(+) channel family member;ether-a-go-go-like potassium channel 2;potassium voltage-gated channel subfamily H member 3;voltage-gated potassium channel subunit Kv12.2 protein-coding ENSG00000135519 HGNC:6252 05164 604527 VALIDATED 735863 KCNG3 potassium voltage-gated channel, subfamily G, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 2 2 2 p21 42509472 42561403 - 42669157 42721237 - 42442017 42494097 - 727345;1580863;6480464;8554872 11852086 12060745;12477932;15046870;15489334;16382104;17207965;19074135;22204340 170850 Q8TAE7 AB070604;ABBA01075061;ABBA01075062;ABBA01075063;ABBA01075064;AC025750;AF348982;AF454547;AF454548;AMYH02003675;BC071558;CH471053;NM_133329;NM_172344 AAH71558;AAL83909;AAM93548;AAM93549;AAY24039;ADQ31921;BAB85520;EAX00318;EAX00319;NP_579875;NP_758847;Q8TAE7 Hs.352633 1727383;2185973;2189523 D2S1825;G63099;RH143571 KV10.1;KV6.3 OTTHUMP00000158763;OTTHUMP00000158764;OTTHUMP00000201478;OTTHUMP00000201479;potassium voltage-gated channel subfamily G member 3;voltage-gated potassium channel 6.3;voltage-gated potassium channel Kv10.1;voltage-gated potassium channel subunit Kv10.1;voltage-gated potassium channel subunit Kv6.3;voltage-gated potassium channel subunit Kv6.4 APPROVED protein-coding ENSG00000171126 HGNC:18306 16232 606767 REVIEWED 1319904 KCNG2 potassium voltage-gated channel, subfamily G, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit of the voltage-gated potassium channel. The delayed-rectifier type channels containing this subunit may contribute to cardiac action potential repolarization. [provided by RefSeq, Jul 2008] 18 18 18 q23 74395926 74431476 + 77623668 77659816 + 79863668 79899816 + 1580863;6480464 10551266;16382104;19056867;24143882 26251 Q9UJ96 ABBA01013898;ABBA01013899;AC114341;AJ011021;AMYH02035067;AMYH02035068;AMYH02035069;GM674295;NM_012283 AAI69276;AAI69278;CAB56834;CAV32986;NP_036415;Q9UJ96 Hs.247905 KCNF2;KV6.2 OTTHUMP00000041994;cardiac potassium channel subunit;potassium voltage-gated channel subfamily G member 2;voltage-gated potassium channel subunit Kv6.2 APPROVED protein-coding ENSG00000178342 HGNC:6249 12036 605696 REVIEWED 731415 KCNH5 potassium voltage-gated channel, subfamily H (eag-related), member 5 This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 14 14 14 q23.2 43224258 43619167 - 63173291 63511956 - 62706573 63045238 - 1580863;6480464;8554872 10524757;11943152;12135768;12477932;14702039;15489334;16303743;16382104;18349282;18655026;19172261;19850283;20379614;20800603;22589738;22792721;22855790;23377640;23647072;24133262;24348519 27133 Q86XI1;Q8NCM2 ABBA01018314;ABBA01018315;ABBA01018316;ABBA01018317;AF418206;AF472412;AF493798;AK074484;AL109985;AL132666;AL137191;AL355101;AMYH02029326;AMYH02029327;AMYH02029328;AMYH02029329;AMYH02029330;AMYH02029331;AMYH02029332;AW628656;BC043409;BC073979;BU147537;CH471061;KF455906;KF455907;KF455910;NG_034062;NM_139318;NM_172375;U69185 AAH43409;AAH73979;AAM28435;AAM49565;AAM49574;BAC11016;EAW80818;EAW80819;NP_647479;NP_758963;Q8NCM2 Hs.27043 1335355;1336011;1676412;1719321;1772056;1796186;1853327;2126711;7187881 D14S1059;D14S1251;D14S290;KCNH5_1311;RH123385;RH91702;SHGC-52823;UniSTS:496048 EAG2;H-EAG2;Kv10.2;hEAG2 OTTHUMP00000028093;OTTHUMP00000245140;OTTHUMP00000245141;OTTHUMP00000245142;ether-a-go-go potassium channel 2;ether-a-go-go-related potassium channel 2;potassium channel HEAG2;potassium voltage-gated channel subfamily H member 5;voltage-gated potassium channel EAG2;voltage-gated potassium channel subunit Kv10.2 APPROVED protein-coding HGNC:6254 10421 605716 REVIEWED 733889 KCNH4 potassium voltage-gated channel, subfamily H (eag-related), member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36964227 36987523 - 40308910 40333296 - 42156892 42181278 - 70783;1580863;6480464;8554872 10455180 12890647;16382104;19913121;20628086 23415 Q9UQ05 AB022698;ABBA01006434;ABBA01006435;AC099811;AMYH02033427;AMYH02033428;AW084816;CH471152;NM_012285 AAI40293;BAA83592;EAW60809;NP_036417;Q9UQ05 Hs.304081 1732245;1733476;2133356 D17S1138;D17S1245;D6S2066 BEC2;ELK1;Kv12.3 ELK channel 1;brain-specific eag-like channel 2;ether-a-go-go K(+) channel family member;ether-a-go-go-like potassium channel 1;potassium voltage-gated channel subfamily H member 4;voltage-gated potassium channel subunit Kv12.3 APPROVED protein-coding ENSG00000089558 HGNC:6253 05165 604528 REVIEWED 737542 KCNH6 potassium voltage-gated channel, subfamily H (eag-related), member 6 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] 17 17 17 q23.3 55988522 56014428 + 61600695 61626338 + 63523334 63548977 + 1580863;6480464;8554872 10414305;12477932;12634931;14702039;15203218;15489334;16344560;16382104;21048031;22412388 81033 B4DKC0;B4DPJ3;J3KSC2;J9JID4;Q9H252 AA825356;ABBA01035330;AC113554;AF311913;AK090969;AK091877;AK296498;AK298363;AMYH02033775;BC006334;BE465143;BM561167;CD632730;CH471109;DB147394;DB506421;DB577720;NM_001278919;NM_001278920;NM_030779;NM_173092 AAG40871;AAH06334;ADZ15745;BAC03559;BAC03764;BAG59132;BAG60605;EAW94308;EAW94309;EAW94310;NP_001265848;NP_001265849;NP_110406;NP_775115;Q9H252 Hs.591177 1763577;1796188;5116670 KCNH6_1541;SHGC-147277;sY3122 ERG-2;ERG2;HERG2;Kv11.2;hERG-2 eag related protein 2;eag-related gene member 2;eag-related protein 2;ether-a-go-go related gene potassium channel 2;ether-a-go-go-related gene potassium channel 2;ether-a-go-go-related protein 2;potassium voltage-gated channel subfamily H member 6;voltage-gated potassium channel subunit Kv11.2 APPROVED protein-coding ENSG00000173826 HGNC:18862 16294 608168 REVIEWED 1352658 KCNH8 potassium voltage-gated channel, subfamily H (eag-related), member 8 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008] 3 3 3 p24.3 19130110 19517673 + 19189946 19577135 + 19148454 19535643 + 1580863;6480464;8554872 11897058;12477932;12890647;16382104;17903296;19913121;20628086 131096 B7Z2I7;F8WCG6;Q96L42 AB209053;ABBA01025100;ABBA01025101;ABBA01025102;ABBA01025103;ABBA01025104;ABBA01025105;ABBA01025106;AC015542;AC061958;AC099538;AC116098;AC135452;AC138315;AK294417;AK294759;AK295633;AK309034;AMYH02006358;AMYH02006359;AMYH02006360;AMYH02006361;AMYH02006362;AY053503;BC031226;CH471055;KF457607;NM_144633;XM_006712961;XM_006712962;XM_006712963;XM_006712964 AAI52894;AAL15429;BAD92290;BAH11759;BAH11873;BAH12134;EAW64296;EAW64297;NP_653234;Q96L42;XP_006713024;XP_006713025;XP_006713026;XP_006713027 Hs.475656 1337576;1655328;1696252;1705850;1722371;1727747;1751799;1767825;1797778;2117220 074YF3;D3S2487;D3S3726;G60257;G63139;KCNH8_2484;SHGC-105820;SHGC-76747;SHGC-81183;SHGC-83625 ELK;ELK1;Kv12.1;elk3;hElk1 ELK channel 3;OTTHUMP00000160336;ether-a-go-go-like potassium channel 1;ether-a-go-go-like potassium channel 3;potassium voltage-gated channel subfamily H member 8;voltage-gated potassium channel subunit Kv12.1 APPROVED protein-coding ENSG00000183960 HGNC:18864 10006 608260 REVIEWED 7254992 KCNIP2-AS1 KCNIP2 antisense RNA 1 10 10 10 q24.32 97317565 97327386 + 103578825 103588646 + 101819068 101828889 + 100289509 ABBA01063186;AC010789;AI125777;AMYH02023681;AMYH02023682;BX090826;DB457968;HG503220;NR_045118 Hs.568881 1681574;1683763 RH92563;RH93099 RP11-190J1.10 ncrna ENSG00000226009 HGNC:48680 VALIDATED 732298 KCNIP1 Kv channel interacting protein 1 This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 5 5 5 q35.1 165812814 166196213 + 169780491 170163636 + 170353487 170736632 + 1580863;6480464;7204681;8554872 20668007 10676964;11287421;11423117;11976919;12136098;12477932;12829703;14572458;14980207;15184042;15358149;15489334;15968430;16112838;16260497;17057713;18393943;18415675;19010793;19550036;19913121;20628086;21129448;22020049;22612322;22779921;24792378 30820 E5RJY5;Q9NZI2 ABBA01044091;ABBA01044092;ABBA01044093;ABBA01044094;ABBA01044095;ABBA01044096;ABBA01044097;AC008619;AC008719;AC027306;AC027312;AC034199;AC113432;AC134820;AF199597;AI884645;AJ324960;AK074390;AK301775;AMYH02012718;AMYH02012719;AMYH02012720;AMYH02012721;AMYH02012722;AMYH02012723;AY170821;AY780424;BC035032;BC050375;BF514334;CH471062;DC420716;DQ148476;DQ148477;DQ148478;DQ148479;KF458055;NG_011538;NM_001034837;NM_001034838;NM_001278339;NM_001278340;NM_014592;XM_006714861 AAF33682;AAH50375;AAN77491;AAV51968;AAZ77793;AAZ77794;AAZ77795;AAZ77796;BAH13550;EAW61470;EAW61471;NP_001030009;NP_001030010;NP_001265268;NP_001265269;NP_055407;Q9NZI2;XP_006714924 Hs.484111 1339130;1713863;1756709;1760407;1763223;1764311;1778426;1780530;1780720;1921298;2217516 D5S1402;KCNMB1_3183;REN31472;RH120081;RH79077;SHGC-142398;SHGC-143803;SHGC-146954;SHGC-147924;bac51040T;bac51805S KCHIP1;MGC95;VABP A-type potassium channel modulatory protein 1;Kv channel-interacting protein 1;OTTHUMP00000160999;OTTHUMP00000223190;OTTHUMP00000223191;OTTHUMP00000223192;OTTHUMP00000223229;potassium channel interacting protein 1;potassium channel-interacting protein 1;vesicle APC-binding protein APPROVED protein-coding ENSG00000182132 HGNC:15521 06879 604660 REVIEWED 732101 KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 145199077 145232050 - 150642044 150675402 - 150944956 150978329 - 1580503;1580863;1580502;6480464;7240710;8554872;8699517 15828882;15840476 10086971;10187793;10219239;10220144;10517660;10735633;10790218;10837251;10862094;10862104;10973849;10996323;11136691;11170080;11278781;11289718;11374908;11741928;11743032;11854117;11864985;11953308;11997281;12021266;12062363;12063277;12142119;12151390;12209010;12270925;12354768;12402336;12427763;12431979;12442276;12477932;12527373;12560090;12593854;12621127;12626667;12634931;12690205;12690509;12695533;12736144;12775586;12804575;12829173;12849668;12853948;12885765;12902341;14525949;14661677;14674677;14676148;14714110;14744775;14760488;14973143;14975928;14998624;15051636;15120823;15176425;15181157;15202000;15211519;15231497;15304481;15364333;15365094;15365637;15367556;15475579;15489334;15522280;15528201;15534720;15572050;15699249;15746444;15760896;15778703;15800067;15851119;15961404;15973763;16011830;16132053;16155735;16166152;16169070;16244363;16253915;16263765;16265378;16361248;16382104;16399053;16407206;16414944;16432067;16467651;16472284;16474003;16487223;16487842;16506891;16524878;16550488;16556651;16723117;16769794;16771953;16818214;16880338;16883575;16914520;16923798;17042915;17056009;17120019;17171344;17192395;17210839;17227789;17239714;17272276;17275752;17293393;17363390;17420287;17429906;17444521;17516459;17531263;17534376;17560885;17569659;17576861;17624316;17693551;17709632;17762170;17763876;17823114;17852802;17895974;17905336;17938585;17976575;18042732;18048364;18096051;18162604;18191158;18192214;18209470;18222980;18272172;18345496;18362022;18386051;18414380;18426444;18441445;18504605;18551196;18559421;18570888;18590565;18593567;18596570;18599551;18616963;18617000;18634834;18675227;18680509;18690032;18708743;18752142;18774102;18776039;18781376;18785031;18791070;18808722;18848812;18923542;18948620;18984536;18987434;19002712;19019189;19027781;19029296;19032804;19034038;19034039;19034806;19065538;19070294;19088442;19088443;19136169;19149796;19157587;19160088;19172259;19174314;19187913;19215240;19234087;19244476;19305408;19305409;19305991;19322600;19324319;19406877;19409379;19412172;19413965;19424205;19439805;19479660;19490267;19490382;19495974;19501051;19551538;19577877;19617705;19654002;19668779;19671703;19690348;19716085;19720020;19726881;19765650;19821083;19843919;19859662;19878047;19892732;19913121;19926013;19940115;19949665;19955179;19956635;20004623;20062061;20062063;20071715;20097192;20108749;20116193;20126398;20133899;20140874;20144677;20215044;20226272;20301308;20363888;20375276;20386770;20400777;20465523;20470906;20479154;20507645;20541041;20544339;20547678;20549940;20574821;20605793;20628086;20660661;20662825;20693282;20699637;20712994;20831043;20833965;20851114;20855658;20860824;20875080;20876384;20920651;20931094;20947828;21044581;21048156;21055387;21057041;21063070;21063774;21070882;21109023;21130771;21135103;21135701;21145461;21164565;21170050;21177251;21185499;21219869;21234558;21315844;21320466;21357734;21376840;21440677;21463633;21474444;21483829;21489024;21490315;21496174;21525004;21536673;21536683;21573751;21669058;21680736;21777565;21806934;21820442;21832094;21844197;21908602;21920426;21935437;21936766;21996251;22052838;22100990;22107967;22124116;22161019;22173492;22242185;22292854;22396785;22460808;22465688;22508050;22517356;22554505;22560601;22580281;22613764;22653970;22727609;22764740;22848423;22876326;22879586;22882672;22891279;22905262;22964610;22988594;23010577;23022675;23029143;23033485;23041462;23090949;23103500;23133669;23134353;23136156;23139156;23166209;23237912;23241319;23277474;23300672;23440458;23459091;23465283;23471968;23473737;23524483;23546015;23571109;23571586;23589291;23603386;23608144;23651034;23672495;23714088;23721480;23744352;23761630;23788249;23792956;23864605;23890619;23899126;23936059;23963841;23981618;23995044;23997099;24015048;24021552;24036083;24074973;24112685;24152733;24204727;24213244;24284363;24307198;24325597;24366185;24392021;24403225;24429499;24530480;24606995;24688054;7604285;7736582;7842012;7889573;8159766;8587608;8635257;8877771;8889548;8914737;8995352;9024139;9230439;9351446;9351462;9509262;9511785;9544837;9600240;9693036;9714291;9765245;9845367 3757 Q12809;Q15BH2 AACC02000108;AB009071;AB044806;ABBA01035170;ABBA01035171;AC006343;AC011234;AF052728;AF363636;AJ010538;AJ512214;AJ609614;AMYH02017065;AMYH02017066;AY380044;AY380045;AY380046;AY380047;AY380048;AY380049;AY380050;AY380051;AY380052;AY380053;AY380054;AY380055;AY380056;BC001914;BC004311;BC127673;BG683210;BM674996;BQ478289;BQ890248;BT007336;CH471173;CS114788;CS114790;CS124199;CS124201;DQ120124;DQ120125;DQ525913;DQ784808;FJ938021;NG_008916;NM_000238;NM_001204798;NM_172056;NM_172057;U04270;XM_006715977 AAA62473;AAC69709;AAH01914;AAH04311;AAI27674;AAI67862;AAL37559;AAP36000;AAQ91589;AAQ91590;AAQ91591;AAQ91592;AAQ91593;AAQ91594;AAQ91595;AAQ91596;AAQ91597;AAQ91598;AAQ91599;AAQ91600;AAQ91601;AAS07566;AAS07567;AAZ40507;AAZ40508;ABF71886;ABQ01243;ACR24650;BAA37096;BAB19682;CAA09232;CAD54447;CAE82156;CAJ13411;CAJ13412;CAJ18800;CAJ18801;EAL24491;EAL24492;EAL24493;EAW54071;EAW54072;EAW54073;EAW54074;EAW54075;NP_000229;NP_001191727;NP_742053;NP_742054;Q12809;XP_006716040 Hs.647099 1745575;1851927;2155357;2164628;2164630 A006G22;G20789;GDB:624527;LQT2;RH12781 ERG-1;ERG1;H-ERG;HERG;HERG1;Kv11.1;LQT2;SQT1;hERG-1 OTTHUMP00000212821;OTTHUMP00000212824;eag homolog;eag-related protein 1;ether-a-go-go-related gene potassium channel 1;ether-a-go-go-related potassium channel protein;ether-a-go-go-related protein 1;potassium voltage-gated channel subfamily H member 2;voltage-gated potassium channel subunit Kv11.1 APPROVED protein-coding ENSG00000055118 HGNC:6251 01069 152427;609620;613688 REVIEWED 2300352 KCNIP4-IT1 KCNIP4 intronic transcript 1 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 4 p15.2 22295154 22304999 - 21844964 21854811 - 21843341 21853188 - 8554872 12515386;23251661 359822 ABBA01032657;AC107462;AMYH02008870;AY072607;AY072608;AY072611;BK000166;NR_002813 Hs.354058 NCRNA00099;UM9(5);UM9-5 APPROVED ncrna HGNC:29895 PREDICTED 732016 KCNJ1 potassium inwardly-rectifying channel, subfamily J, member 1 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q24 125874052 125903407 - 128707909 128737268 - 128838014 128867373 - 729173;1580799;1580863;6480464;6907045;7240710;7244390;8554872;8699517 12589089;21606114;7680431 10479680;12086641;12221079;12381810;12477932;12684516;14604981;15489334;15895241;15987778;16344560;16382105;16428287;16543716;17380208;17401586;18211905;18391953;18443236;18550644;18755144;19096086;19170254;19244242;19272129;19349416;19706464;19710010;19913121;20219833;20379614;20424473;20628086;21081491;21355052;21631963;22907731;23211697;23782368;7635463;7929082;8190102;8621594;8841184;9002665;9015377;9099852;9727001 3758 A8K432;P48048 ABBA01023014;AI795925;AK290797;AK308032;AK308033;AK314267;AMYH02025766;AP000920;AP001122;AW611934;BC063109;BC074752;BC136360;BC136361;BE466312;CH471065;DA622270;DA629130;DB199073;NG_009379;NM_000220;NM_153764;NM_153765;NM_153766;NM_153767;S78737;U03884;U12541;U12542;U12543;U12544;U12545;U65406 AAA20594;AAA61712;AAA61713;AAA61714;AAA61715;AAA61716;AAB35012;AAC51220;AAC51221;AAC51222;AAH74752;AAI36361;AAI36362;BAF83486;EAW67721;EAW67722;EAW67723;EAW67724;EAW67725;NP_000211;NP_722448;NP_722449;NP_722450;NP_722451;P48048 Hs.527830 1712873;1732383;1732391;2113554;2143055 D11S1859;D11S1864;D11S4612;KCNJ1_V178;RH120153 KIR1.1;ROMK;ROMK1 ATP-regulated potassium channel ROM-K;ATP-sensitive inward rectifier potassium channel 1;OTTHUMP00000045938;OTTHUMP00000230982;OTTHUMP00000230983;OTTHUMP00000230984;OTTHUMP00000230985;inward rectifier K(+) channel Kir1.1;inwardly rectifying K+ channel;potassium channel, inwardly rectifying subfamily J member 1 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H APPROVED protein-coding ENSG00000151704 HGNC:6255 08981 241200;600359 REVIEWED 735835 KCNIP3 Kv channel interacting protein 3, calsenilin This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 2 q21.1 90316179 90404946 + 95963072 96051825 + 95297324 95386077 + 1580863;6480464;7204681 20668007 10078534;10676964;10854253;10900016;11072133;11094064;11259376;11278424;11535596;11792319;11988022;12006572;12198160;12207970;12217801;12451113;12477932;12648752;12829703;12837631;14702039;14720210;15086516;15184042;15489334;15770150;15815621;16112838;16177826;16189514;16306395;16840549;17102134;17189291;17962406;18187620;18269347;18393943;18507845;18628663;18664571;18957440;19299442;19730683;20211142;21070824;21216226;21813705;21852538;22730276;23019329;23187802;23300953;23692269;23786773;9771752;9819380 30818 Q9Y2W7 ABBA01003559;ABBA01003560;ABBA01003561;ABBA01003562;ABBA01003563;AC009238;AF120102;AF199599;AF367022;AJ131730;AK095539;AK315437;AMYH02004301;BC012850;BI755669;BT020075;BX491997;CH471219;DQ148485;DQ148486;NM_001034914;NM_013434 AAD20350;AAF33684;AAH12850;AAK53711;AAV38878;AAY14752;AAZ77802;AAZ77803;ABM83004;ABM86197;ABM86242;BAG37825;CAB56835;CAB56836;EAX10723;EAX10724;EAX10725;EAX10726;EAX10727;NP_001030086;NP_038462;Q9Y2W7 Hs.437376 1338755;2167957;2191051;2191189 D2S2159;MARC_13819-13820:1006878275:1;MARC_16025-16026:1017084488:1;RH18424 CSEN;KCHIP3;MGC18289 A-type potassium channel modulatory protein 3;DRE-antagonist modulator;DREAM;OTTHUMP00000160938;OTTHUMP00000207345;calsenilin;calsenilin, presenilin binding protein, ef hand transcription factor;calsenilin, presenilin-binding protein, EF hand transcription factor;kv channel-interacting protein 3;potassium channel interacting protein 3 APPROVED protein-coding ENSG00000115041 HGNC:15523 05232 604662 REVIEWED 734396 KCNH7 potassium voltage-gated channel, subfamily H (eag-related), member 7 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008] 2 2 2 q24.2 156838249 157305494 - 163227917 163695257 - 162371407 162838747 - 1580863;6480464;8554872 10414305;12477932;12634931;15961404;16382104;17474147;18285833;19156166;19913121;20379614;20628086;20953190;22359512 90134 Q9NS40 ABBA01004893;ABBA01004894;ABBA01004895;ABBA01004896;ABBA01004897;AC007740;AC010876;AC011900;AC093082;AC104822;AC139719;AF032897;AK098545;AMYH02005094;AMYH02005095;AMYH02005096;AMYH02005097;BC035815;CH471058;DR002425;NM_033272;NM_173162 AAD01946;AAH35815;AAX93139;AAX93153;AAY24106;EAX11346;NP_150375;NP_775185;Q9NS40 Hs.657413 1337565;1686126;1697804;1714617;1751023;1761269;1797776;1856932;2125441;2177514 A004C18;D2S2395;KCNH7_1882;RH102426;RH11941;RH119974;RH92733;SHGC-104913;SHGC-145272;SHGC-30444 ERG-3;ERG3;HERG3;Kv11.3;MGC45986 OTTHUMP00000162950;OTTHUMP00000162951;eag related protein 3;eag-related protein 3;ether-a-go-go related gene potassium channel 3;ether-a-go-go-related gene potassium channel 3;ether-a-go-go-related protein 3;potassium channel erg3;potassium channel subunit HERG-3;potassium voltage-gated channel subfamily H member 7;voltage-gated potassium channel subunit Kv11.3 APPROVED protein-coding ENSG00000184611 HGNC:18863 16295 608169 REVIEWED 734096 KCNIP2 Kv channel interacting protein 2 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008] 10 10 10 q24 97324471 97342415 - 103585731 103603769 - 101825974 101843920 - 737786;6480464;7204681 11747815;20668007 10676964;11076863;11230166;11263977;11287421;11351020;11684073;12135940;12297301;12477932;12829703;12928444;14623880;14702039;14980201;15184042;15356203;15358149;15489334;15489336;15498806;15578212;16112838;16177826;16381901;16385451;16820361;16951992;17353931;18393943;18501111;18585502;18957440;19361449;19927631;20354865;20498229;20649599;20709747;21422811 30819 A6NFF4;B3KSZ5;Q3YAC7;Q9NS61 AB044584;AB044585;ABBA01063186;AC010789;AF199598;AF295076;AF295530;AF347114;AF367018;AF367019;AF367020;AF367021;AJ276317;AK027347;AK055089;AK094668;AK125382;AK130689;AK295324;AK301433;AK309368;AK314536;AK315042;AL136722;AMYH02023682;AMYH02023683;AMYH02023684;AY026328;AY026329;AY026330;AY026331;AY302141;BC034685;BG911444;CH471066;DQ148480;DQ148481;DQ148482;DQ148483;DQ148484;DQ862463;NG_029836;NM_014591;NM_173191;NM_173192;NM_173193;NM_173194;NM_173195;NM_173197;XM_005269729;XM_005269730;XM_006717812 AAF33683;AAG02120;AAG02121;AAH34685;AAK07674;AAK21972;AAK53707;AAK53708;AAK53709;AAK53710;AAK70356;AAP57633;AAZ77797;AAZ77798;AAZ77799;AAZ77800;AAZ77801;ABI51986;BAA96740;BAA96741;BAB55052;BAG37523;BAG51465;BAG52907;BAG58301;BAG62961;CAB66656;CAB77054;CAL37694;EAW49730;EAW49731;EAW49732;EAW49733;EAW49734;EAW49735;EAW49736;EAW49737;EAW49738;EAW49739;EAW49740;NP_055406;NP_775283;NP_775284;NP_775285;NP_775286;NP_775287;NP_775289;Q9NS61;XP_005269786;XP_005269787;XP_006717875 Hs.97044 1666086;1681574;1683763;2109445;2160774;2182834;2182836 A006D27;Bda26a02;D10S2382;G20725;KCNIP2_887;RH92563;RH93099 DKFZp566L1246;KCHIP2;MGC17241 A-type potassium channel modulatory protein 2;Kv channel-interacting protein 2;OTTHUMP00000020332;OTTHUMP00000020333;OTTHUMP00000020334;OTTHUMP00000020335;OTTHUMP00000020336;OTTHUMP00000020337;OTTHUMP00000020338;OTTHUMP00000020339;OTTHUMP00000020340;cardiac voltage gated potassium channel modulatory subunit;cardiac voltage-gated potassium channel modulatory subunit;potassium channel interacting protein 2;potassium channel-interacting protein 2 APPROVED protein-coding ENSG00000120049 HGNC:15522 06880 604661 REVIEWED 733209 KCNIP4 Kv channel interacting protein 4 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p15.32 21186744 22401039 - 20730234 21950424 - 20728616 21948751 - 6480464;7204681;8554872 20668007 11805342;11847232;12477932;15184042;15489334;15815621;16112838;16951992;17353931;17981209;18269347;18393943;18519826;18957440;19240061;19910543;20045463;20379614;20670164;20877300;21156761;21624954;21832049;22981920;23251661;23382691;23457522;23576435;24811166 80333 A8K4N3;F5H395;Q3YAB7;Q6PIL6 ABBA01032646;ABBA01032647;ABBA01032648;ABBA01032649;ABBA01032650;ABBA01032651;ABBA01032652;ABBA01032653;ABBA01032654;ABBA01032655;ABBA01032656;ABBA01032657;ABBA01032658;ABBA01032659;ABBA01032660;AC096576;AC097505;AC098597;AC104065;AC107462;AC108147;AC109360;AC109636;AC110296;AC110612;AC113606;AC116641;AC210756;AF302044;AF305072;AF367023;AF367024;AF453244;AF453246;AK289661;AK289922;AK290998;AK294188;AK314058;AMYH02008853;AMYH02008854;AMYH02008855;AMYH02008856;AMYH02008857;AMYH02008858;AMYH02008859;AMYH02008860;AMYH02008861;AMYH02008862;AMYH02008863;AMYH02008864;AMYH02008865;AMYH02008866;AMYH02008867;AMYH02008868;AMYH02008869;AMYH02008870;AMYH02008871;AX407321;AX407323;AY029176;AY118170;BC032520;BI596848;BX648990;CH471069;DQ148487;DQ148488;DQ148489;DQ148490;DQ148491;DQ148492;NM_001035003;NM_001035004;NM_025221;NM_147181;NM_147182;NM_147183;XM_005248190 AAG36974;AAG36977;AAH32520;AAK31594;AAK53712;AAK53713;AAL86767;AAL86769;AAM81578;AAY40911;AAY40952;AAZ77804;AAZ77805;AAZ77806;AAZ77807;AAZ77808;AAZ77809;ABZ92064;BAF82350;BAF82611;BAF83687;BAG57504;CAD35225;CAD35226;EAW92797;EAW92798;NP_001030175;NP_001030176;NP_079497;NP_671710;NP_671711;NP_671712;Q6PIL6;XP_005248247 Hs.655705 1335128;1336897;1337265;1338364;1340624;1340908;1341287;1342060;1342160;1645923;1647631;1648841;1651978;1659876;1664200;1666507;1668220;1668388;1672280;1676178;1677610;1681300;1691212;1696452;1707008;1714661;1715531;1717683;1723977;1728525;1728717;1729214;1732739;1760643;1771387;1772534;1772814;1778875;1788964;1847842;1848083;1849693;1855654;2113758;2114847;2115993;2121380;2128301;2135112;2136442;2137675;2138205;2139785;2142926;2143580;2143594;2150022;2151171;2152979;2153558;2160453;2161098;2162755;2168153;2172400;2177196;2184778;7186448;7187080;7187387;7187591 AB055381;CHLC.GGAT14F06;D4S1533;D4S1546;D4S1562;D4S1593;D4S2312;D4S2353;D4S2511E;D4S2525E;D4S2620;D4S2707;D4S2708;D4S278;D4S2792;D4S2803;D4S2905;D4S2994;D4S3017;D4S3020;D4S323;D4S3349;D4S3356;D4S337;D4S456;D4S503;D4S893;G16780;G20630;G33687;G33915;G33938;G63700;G63730;G65558;GATA70E01;RH118939;RH119995;RH120910;RH122272;RH12353;RH17093;RH92764;RH93232;SHGC-144186;SHGC-17216;SHGC-24104;SHGC-24820;SHGC-30526;SHGC-50148;SHGC-50646;SHGC-51639;SHGC-51650;SHGC-59487;SHGC-59718;SHGC-59731;SHGC-67313;SHGC-67709;SHGC-67835;SHGC-79761;SHGC-81007;SHGC-8260;STS-F04275;STS-H52461;WI-18093;WI-20656;WI-21155 CALP;KCHIP4;MGC44947 Kv channel-interacting protein 4;OTTHUMP00000158705;OTTHUMP00000218115;OTTHUMP00000218116;OTTHUMP00000219282;OTTHUMP00000219283;OTTHUMP00000219284;a-type potassium channel modulatory protein 4;calsenilin-like protein;potassium channel interacting protein 4;potassium channel-interacting protein 4 APPROVED protein-coding ENSG00000185774 HGNC:30083 12184 608182 REVIEWED 734216 KCNJ13 potassium inwardly-rectifying channel, subfamily J, member 13 This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] 2 2 2 q37 227394843 227405607 - 233630512 233641275 - 232765802 232776565 - 1580863;6480464;7240710;8554872;8699517 10455019;12477932;15489334;15557460;16344560;16382105;18035352;18094146;18179896;18391953;18976636;19240061;19460752;20301475;21763485;22706862;23974872;23977131;9620703;9738472;9786970;9878260 3769 C9JWD6;H7C4D1;O60928 ABBA01002007;AC064852;AF061118;AF082182;AJ006128;AJ007557;AK314019;AMYH02005992;AY758240;AY758241;BC037290;CB410257;CH471063;DA278958;DB173405;DB547266;DN993097;NG_011847;NG_016742;NM_001172416;NM_001172417;NM_002242 AAC15769;AAD08673;AAH37290;AAX08098;AAX08099;AAX93190;ABM82650;ABM85827;BAG36730;CAA06878;CAA07552;EAW71019;NP_001165887;NP_001165888;NP_002233;O60928 Hs.467338 1340264;1681382;1685423;2108183 D2S172;KCNJ13_7654;RH94056;RH94296 KIR1.4;KIR7.1;LCA16;MGC33328;SVD OTTHUMP00000164358;OTTHUMP00000203613;OTTHUMP00000203614;OTTHUMP00000203615;OTTHUMP00000203616;inward rectifier K(+) channel Kir7.1;inward rectifier potassium channel 13 APPROVED protein-coding ENSG00000115474 HGNC:6259 04441 193230;603208;614186 REVIEWED 731912 KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10 This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 133075700 133108518 - 160007257 160040051 - 160037467 160070261 - 1580863;2326035;6480464;5490120;7240710;8662892;8662897;7349365;8554872;8662881;8662888;8662893;8662894;8662901;8699517;8662867;8662869;8662896;8662905;8662868;8662907;8662908;8662866;8662890;8662899 12618319;16330144;17356517;19420365;20132867;20216911;20375134;20833221;20861444;21307341;21487926;21538466;21672350;22055109;22143324;22420318;22987392;23603404;23827367;24070676 10479680;10659995;11927671;12401729;12456399;12477932;12923169;15120748;15123239;15489334;15725393;15911117;16344560;16382105;16710414;17122384;17185339;17628813;17727731;18191638;18391953;19289823;19426954;19523148;19864112;19931615;20301607;20301640;20621367;20651251;20933057;21084311;21088294;21106816;21221631;21300747;21458570;21748805;21832049;21849804;22412181;22802001;22878665;23270518;23392672;23873931;23965030;24014171;24193250;24378235;24415573;24561201;24777949;25008548;8889548;8995301;9148889;9367690;9647694 3766 P78508;Q9BXC5 ABBA01016617;AF344826;AF482710;AK312383;AL121987;AL513302;AMYH02002018;AMYH02002019;BC034036;BC037840;BC131627;BE466069;BM675618;CH471121;DA958759;NG_016411;NM_002241;U52155;U73192;U73193 AAB07046;AAC50923;AAC50924;AAH34036;AAI31628;AAK27517;AAL89708;ABM83318;ABM86533;BAG35301;EAW52748;EAW52749;EAW52750;NP_002232;P78508 Hs.408960 1338824;1670025;1711272;1777767;1797780;2114707;2116682 D1S1167;G31026;KCNJ10_866.2;NIB355;RH47009;RH67793;SHGC-89275 BIRK-10;KCNJ13-PEN;KIR1.2;KIR4.1 ATP-dependent inwardly rectifying potassium channel Kir4.1;ATP-sensitive inward rectifier potassium channel 10;OTTHUMP00000025748;SESAME;glial ATP-dependent inwardly rectifying potassium channel KIR4.1;inward rectifier K(+) channel Kir1.2;inward rectifier K+ channel KIR1.2;potassium channel, inwardly rectifying subfamily J member 10 2314798;2314801 GLUCO117_H;GLUCO120_H APPROVED protein-coding ENSG00000177807 HGNC:6256 03732 600791;602208;612780 REVIEWED 735432 KCNJ14 potassium inwardly-rectifying channel, subfamily J, member 14 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013] 19 19 19 q13 45824005 45834608 + 48958964 48969367 + 48455707 48466110 + 633149;1580863;1581471;6480464;8554872 15936845;9592090 10723734;10942728;11853319;12477932;15489334;15958527;16382105;17347781;18391953;20424473;8889548 3770 Q9UNX9 ABBA01032990;AC008403;AF081466;AF181988;AMYH02036299;BC032682;BC035918;BC042033;BM710116;BU739644;CH471177;NM_013348 AAD51376;AAF97619;AAH35918;EAW52348;NP_037480;Q9UNX9 Hs.144011;Hs.736972;Hs.745133 1749995;1796192;2132522 KCNJ14_874;RH12000;SHGC-111700 IRK-4;IRK4;KIAA1942;KIR2.4;MGC46111 ATP-sensitive inward rectifier potassium channel 14;inward rectifier K(+) channel Kir2.4;inwardly rectifying potassium channel KIR2.4;potassium channel, inwardly rectifying subfamily J member 14 APPROVED protein-coding ENSG00000182324 HGNC:6260 04901 603953 REVIEWED 4144939 KCNJ18 potassium inwardly-rectifying channel, subfamily J, member 18 This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013] 17 17 17 1 559 + 344888 356977 + 21692523 21704612 + 7240710;6480464;8554872 20074522;20301512;21209095;21665951;21963094;22910584 100134444 B7U540 ABBA01017896;ABBA01017897;AC233702;FJ434338;NG_033093;NM_001194958;XM_005276919 ACJ64506;B7U540;NP_001181887;XP_005276976 Hs.200629 1796190;2159374 KCNJ12_870;SHGC-11071 KIR2.6;TTPP2 inward rectifier K(+) channel Kir2.6;inward rectifier potassium channel 18;potassium channel, inwardly rectifying subfamily J member 18;thyrotoxic periodic paralysis susceptibility ion channel APPROVED protein-coding ENSG00000260458 HGNC:39080 613236;613239 REVIEWED 733298 KCNJ12 potassium inwardly-rectifying channel, subfamily J, member 12 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 21271752 21272289 - 21279699 21323184 + 21376387 21419872 + 1580800;1581471;1580863;6480464;8554872 12034888;15936845 11181181;12032359;12417321;12477932;12598232;12794312;14702039;14960569;15024025;15489334;15958527;16258766;16344560;16373386;16382105;17185339;18391953;19016473;20676672;20841375;20881960;20921230;21281576;21963094;23269273;5024025;7859381;8647284;9027495;9430667;9533018 3768 Q14500;Q6L5N3 AB074970;AB181299;AB182123;ABBA01050466;ABBA01050467;ABBA01050468;AC068418;AF005214;AK024229;AMYH02033199;BC027982;BM799671;CH471221;DA115102;L36069;NM_021012;U53143;XM_005256625 AAA65122;AAC01951;AAC50615;AAH27982;ADZ15629;BAC02718;BAD22701;BAD23901;EAW49109;NP_066292;Q14500;XP_005256682 Hs.200629 1796190;2159374;2160354 KCNJ12_870;RH65630;SHGC-11071 FLJ14167;IRK-2;IRK2;KCNJ18;KCNJN1;Kir2.2;Kir2.2v;hIRK;hIRK1;hkir2.2x;kcnj12x ATP-sensitive inward rectifier potassium channel 12;OTTHUMP00000162917;inward rectifier K(+) channel Kir2.2;inward rectifier K(+) channel Kir2.2v;inward rectifier K(+) channel Kir2.6;potassium channel, inwardly rectifying subfamily J member 12;potassium channel, inwardly rectifying subfamily J member 18;potassium inwardly-rectifying channel, subfamily J, inhibitor 1 APPROVED protein-coding ENSG00000184185 HGNC:6258 09083 602323 VALIDATED 731050 KCNJ15 potassium inwardly-rectifying channel, subfamily J, member 15 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013] 21 21 21 q22.2 24826521 24871607 + 39601837 39675043 + 38229915 38303121 + 1580863;6480464;8554872 10479680;10830953;11306656;11804844;11927671;12477932;15068243;15123239;15489334;16344560;16382105;17122384;17185339;18029348;18391953;19420109;20085713;22566534;23595124;8995301;9037601;9299242;9647694;9882736 3772 A8MTZ5;A8MVK1;C9J0W5;C9JTX1;E7EPG3;E7EWV2;F8VW46;F8VX74;Q99712 ABBA01011097;AI344546;AI453386;AJ012369;AK292812;AMYH02037812;AMYH02037813;AP001422;AP001434;AP001438;BC013327;BI832561;CH471079;D87291;DA632853;DA670230;DA673158;DA675388;DA968871;DB008463;DB232867;KF457282;KF457286;NM_001276435;NM_001276436;NM_001276437;NM_001276438;NM_001276439;NM_002243;NM_170736;NM_170737;U73191;XM_005260975;XM_005260976;XM_006724002;Y10745;Y13895;Y13896 AAC50922;AAH13327;ABM87860;BAA13326;BAF85501;CAA71734;EAX09683;EAX09684;EAX09685;NP_001263364;NP_001263365;NP_001263366;NP_001263367;NP_001263368;NP_002234;NP_733932;NP_733933;Q99712;XP_005261032;XP_005261033;XP_006724065 Hs.411299 1686650;1791163;1797782;2115229;2128305 KCNJ15_876.2;Kcnj15;RH70471;RH75919;SHGC-17366 IRKK;KIR1.3;KIR4.2;MGC13584 ATP-sensitive inward rectifier potassium channel 15;OTTHUMP00000115737;OTTHUMP00000115738;OTTHUMP00000115740;OTTHUMP00000115741;OTTHUMP00000115742;OTTHUMP00000115743;OTTHUMP00000115744;OTTHUMP00000115745;OTTHUMP00000115746;OTTHUMP00000115747;inward rectifier K(+) channel Kir1.3;inward rectifier K(+) channel Kir4.2;inward rectifier K+ channel KIR4.2;potassium channel, inwardly rectifying subfamily J member 15 APPROVED protein-coding ENSG00000157551 HGNC:6261 03659 602106 REVIEWED 5687827 KCNJ2-AS1 KCNJ2 antisense RNA 1 (head to head) 17 17 17 q24.3 64734982 64737423 - 68163102 68165543 - 70166961 70169402 - 14702039 400617 ABBA01028924;AC005242;AK093963;AMYH02033900;NG_008798;NR_036534 Hs.225661 2152455 RH48445 FLJ36644 APPROVED ncrna ENSG00000267365 HGNC:43720 VALIDATED 1343172 KCNJ16 potassium inwardly-rectifying channel, subfamily J, member 16 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014] 17 17 17 q24.3 64643318 64703632 + 68071348 68131749 + 70075207 70135608 + 1580863;6480464;8554872 11060447;11240146;11306656;11988170;12456399;12477932;12923169;16344560;16382105;17185339;18391953;19234473;19240061;20379614;20881960;22436252;22863731;22907060;23362303;23704328;23873931;24024966;24193250;24559202;8125298;9882736 3773 A8K434;K7EJR9;K7EKJ4;K7ELL5;K7EPW9;Q8N538;Q9NPI9 ABBA01028925;ABBA01028926;ABBA01028927;AC005208;AF153814;AF153815;AF153816;AF153817;AF179353;AK225944;AK290799;AMYH02033896;AMYH02033897;AMYH02033898;AMYH02033899;BC030961;BC033038;CH471099;DA071381;DA109745;DA128508;DA627411;DA628604;DA636394;KF459700;NM_001270422;NM_001291622;NM_001291623;NM_001291624;NM_001291625;NM_018658;NM_170741;NM_170742;XM_005257334;XM_005257335;XM_005257336;XM_005257337;XM_005257339;XM_005257340;XM_006721882;XM_006721883;XM_006721884;XM_006721885;XM_006721886;XM_006721887;XM_006721888;XM_006721889;XM_006721890 AAF73238;AAF73239;AAF73240;AAF73244;AAG09401;AAH33038;ABM83397;BAF83488;EAW89090;EAW89091;NP_001257351;NP_001278551;NP_001278552;NP_001278553;NP_001278554;NP_061128;NP_733937;NP_733938;Q9NPI9;XP_005257391;XP_005257392;XP_005257393;XP_005257394;XP_005257396;XP_005257397;XP_006721945;XP_006721946;XP_006721947;XP_006721948;XP_006721949;XP_006721950;XP_006721951;XP_006721952;XP_006721953 Hs.463985 1651541;1796194 KCNJ16_878;RH46249 BIR9;KIR5.1;MGC33717 inward rectifier K(+) channel Kir5.1;inward rectifier K+ channel KIR5.1;inward rectifier potassium channel 16;potassium channel, inwardly rectifying subfamily J member 16 APPROVED protein-coding ENSG00000153822 HGNC:6262 16146 605722 REVIEWED 733789 KCNJ3 potassium inwardly-rectifying channel, subfamily J, member 3 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012] 2 2 2 q24.1 149169529 149327383 + 155555093 155714864 + 154698581 154858352 + 1580863;6480464;6907045;8554872 10889209;11345517;11741896;12034888;12297500;12458027;12477932;12743112;15142872;15489334;16109170;16382105;17185339;18097938;18391953;18498071;19135528;19151997;19917775;20110696;20468064;20512921;21044958;21420934;21927946;23175530;23219908;23368630;8088798;8804710;8868049;8929423;9023358;9108307;9119365;9765280;9891030 3760 D2X9V0;D2XBF0;P48549 ABBA01004817;ABBA01004818;ABBA01004819;AC061961;AC093633;AC107060;AK026384;AK293824;AK293924;AMYH02005018;AMYH02005019;AW949825;BC022495;CH471058;GU068048;GU074515;GU074516;NM_001260508;NM_001260509;NM_001260510;NM_002239;U50964 AAB42176;AAH22495;AAX93197;ABM83289;ABM86498;ADB11081;ADB11082;ADB11083;BAG57228;BAG57305;EAX11461;NP_001247437;NP_001247438;NP_001247439;NP_002230;P48549 Hs.591606 1654889;1660566;1739769;1739777;1743905;1752197;1796198;2155682;5015619;5022450;5037552 D10S275;D11S3114;D2S2105E;D2S2106E;D8S2279;GDB:375307;KCNJ3_340;RH70622;SGC31664;SHGC-106069;SHGC-31309 FLJ22731;GIRK-1;GIRK1;KGA;KIR3.1 G protein-activated inward rectifier potassium channel 1;OTTHUMP00000162768;inward rectifier K(+) channel Kir3.1;inward rectifier K+ channel KIR3.1;potassium channel, inwardly rectifying subfamily J member 3;potassium inwardly-rectifying channel subfamily J member 3 splice variant 1e 2314777;2314985 GLUCO106_H;INSUL32_H APPROVED protein-coding ENSG00000162989 HGNC:6264 03323 601534 REVIEWED 733316 KCNJ4 potassium inwardly-rectifying channel, subfamily J, member 4 Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 22627921 22656791 - 38822332 38851205 - 38426327 38455199 - 1580863;1581471;6480464 15936845 10206975;10479680;10591208;10627592;11181181;11306688;11713246;11742811;11997254;12032359;12477932;14960569;15024025;15123239;15461802;15489334;15958527;16258766;16373386;16382105;16855024;17185339;18180291;18391953;18453743;18503768;19635485;20424473;22396414;7607694;8016146;8034048;8051145;8893032;8943291 3761 P48050;Q58F07 ABBA01055519;AMYH02038356;BC032562;BC039618;BC113506;BC113508;BM475496;CH471095;CR456507;KF457449;KF511478;NM_004981;NM_152868;S72503;U07364;U24056;Z97056 AAA19962;AAA66076;AAC60632;AAH32562;AAI13507;AAI13509;CAG30393;CAK54537;CAK54836;EAW60235;EAW60236;NP_004972;NP_690607;P48050 Hs.32505 1683219;1745747;1797784;2125629;5117985 GDB:633469;GDB:633533;KCNJ4_1786;RH70543;RH78616 HIR;HIRK2;HRK1;IRK-3;IRK3;Kir2.3;MGC142066;MGC142068 OTTHUMP00000199208;hippocampal inward rectifier potassium channel;inward rectifier K(+) channel Kir2.3;inward rectifier K+ channel Kir2.3;inward rectifier potassium channel 4;potassium channel, inwardly rectifying subfamily J member 4 APPROVED protein-coding ENSG00000168135 HGNC:6265 02738 600504 REVIEWED 1349904 KCNJ5 potassium inwardly-rectifying channel, subfamily J, member 5 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It may associate with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008] 11 11 11 q24 125929625 125956261 + 128761313 128791060 + 128891418 128921165 + 1580863;1581701;6480464;7240710;8554872;8699517 11693772 10659995;11741896;11879649;12297500;12477932;15142872;15489334;15694835;16109170;16382105;17185339;17207965;17967416;18239147;18289755;18391953;18976975;19135528;19208499;19805912;20110696;20301308;20560207;21311022;21555883;21586291;21637918;21659651;22203740;22252394;22275527;22278422;22308486;22315453;22323562;22442279;22628607;22628608;22645387;22701748;22743686;22798349;22848660;22863749;23012392;23225057;23229280;23318698;23376008;23382865;23383108;23778974;23829355;23872692;24037882;24082052;24148898;24179102;24420545;24506072;24510572;24574546;24711039;7590741;8558261;8834003;8868049;9108307;9169438;9245502;9642257;9765280;9891030 3762 P48544 AB690268;ABBA01023015;AK312837;AMYH02025766;AMYH02025767;AP000920;BC069386;BC069482;BC069499;BC069571;BC074838;BC074839;BC096834;BX647543;CH471065;D50134;JN859132;JN859133;L47208;NG_023406;NM_000890;U39195;X83582;XM_005271543 AAB07269;AAB53093;AAH69386;AAH69482;AAH69499;AAH69571;AAH74838;AAH74839;AAH96834;ADQ31914;AFB82769;AFB82770;BAA08814;BAG35691;BAL72885;CAA58565;EAW67726;EAW67727;NP_000881;P48544;XP_005271600 Hs.444595;Hs.632109 1341470;1656456;1766951;2131689;2181238;5022200;5022588;5022651;5037552 D11S2921;D11S4150;D5S1597E;D8S2279;KCNJ5;L18426;RH18049;RH79150;SHGC-152477 CIR;GIRK-4;GIRK4;IRK-4;KATP-1;KATP1;KIR3.4;LQT13 G protein-activated inward rectifier potassium channel 4;G protein-activated inward rectifier potassium channel 4 (GIRK4) (Potassium channel, inwardly rectifying, subfamily J, member 5) (Inward rectifier K+ channel Kir3.4) (Heart KATP channel) (KATP-1) (Cardiac inward rectifier) (CIR)...;OTTHUMP00000230987;OTTHUMP00000230988;cardiac ATP-sensitive potassium channel;cardiac inward rectifier;heart KATP channel;inward rectifier K(+) channel Kir3.4;inward rectifier K+ channel KIR3.4;potassium channel, inwardly rectifying subfamily J member 5 APPROVED protein-coding HGNC:6266 09010 600734;613485;613677 REVIEWED 69098 KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] 11 11 11 p15.1 17536622 17540705 - 17406795 17410878 - 17385237 17389331 - 1625277;1580863;1625256;1625279;1598644;1598645;2313628;2311063;2311536;2301911;2311533;2311534;2311535;2313610;2311538;6480464;6484113;6907045;7240710;7297042;7297043;7297045;7296920;7297046;8554872;8699517 15292329;15565284;15857625;15964031;15998776;16416420;17108688;17259403;17906066;18001323;18021373;18802029;18940941;19065048;19351728;19498446;19502414;21250976;23785408 10093054;10204114;10338089;10391210;10559219;11136227;11318841;11424233;11825905;12145195;12196481;12199344;12213829;12351459;12356945;12364426;12388475;12477932;12524280;12540637;12540638;12819904;12860923;12934053;12941953;14514649;14551916;14642445;14656703;14681552;14871556;14988278;15004210;15111507;15115830;15448106;15448107;15489334;15504982;15562009;15579781;15579791;15580558;15583126;15718250;15735229;15760904;15784703;15797964;15807877;15838686;15842514;15855351;15930170;15956217;15962003;15983208;16087682;16142506;16320083;16332676;16339180;16357843;16367885;16382105;16429405;16455067;16595597;16609879;16636122;16670688;16731833;16731860;16732049;16733889;16873704;16902404;17020404;17021801;17047922;17065345;17137217;17192350;17192490;17213273;17257281;17259376;17296510;17316607;17327377;17342155;17378627;17380317;17395632;17431820;17446535;17463246;17463248;17463249;17475937;17535866;17570749;17601994;17635943;17652641;17659066;17668386;17720745;17823772;17825556;17855752;17890419;17894829;17898091;17901525;17919178;17922473;17923772;17965292;17965318;17976307;17977958;17978456;17994213;18073297;18159846;18162506;18162508;18212765;18221420;18243136;18281290;18290324;18335204;18372903;18391953;18426861;18498634;18504616;18516622;18544102;18556340;18559200;18566517;18591388;18596924;18597214;18598350;18662362;18664331;18710329;18719881;18752747;18758683;18767144;18796522;18854154;18958766;18972257;18984664;18998097;19002430;19020323;19020324;19033397;19056611;19082521;19139106;19139842;19214942;19225753;19247372;19254908;19258437;19264985;19279076;19324937;19336475;19345438;19357197;19368707;19380854;19401414;19435956;19475716;19481058;19491206;19578796;19587354;19592620;19602701;19685080;19692135;19720844;19766903;19794065;19805355;19808892;19862325;19876004;19913121;19921246;20036918;20043145;20054294;20075150;20079163;20161779;20164212;20203524;20215779;20301549;20301620;20361036;20384434;20401705;20424228;20431170;20437825;20490451;20503258;20540435;20540670;20550665;20571754;20595581;20597906;20616309;20628086;20682687;20685672;20712903;20802253;20816152;20863361;20879858;20922570;20923526;20929593;20980454;21352428;21378087;21418633;21422196;21540348;21544516;21573802;21674179;21682153;21710463;21765448;21820692;21871684;21890473;21981029;22082043;22133355;22163043;22264780;22308858;22360462;22443257;22471336;22512215;22573428;22591706;22648966;22701567;22704848;22768671;22815030;22957706;23050777;23054005;23362136;23412854;23434183;23626843;23652837;23667671;23772394;24018988;24065655;24222218;24429282;24686051;7502040;7847376;8549873;8897013;8923010;9032109;9144288;9703328 3767 B2RC52;E9PPF1;H0YES9;Q14654 ABBA01061065;AC124798;AI377272;AK301550;AK314943;AMYH02024383;BC040617;BC064497;BC112358;BE019467;CH471064;D50582;GU170814;NG_012446;NM_000525;NM_001166290;XM_006718226 AAH40617;AAH64497;AAI12359;ACZ56124;BAA09131;BAG37449;BAG63046;EAW68438;NP_000516;NP_001159762;Q14654;XP_006718289 Hs.248141 1682463;2108181;2150482;5015961;5022200;5022322;5022588;5024761;5037552;5493479 D11S2560;D15S1477;D5S1597E;D8S2279;KCNJ11_868.2;L18426;RH36905;RH41979;RH80766;UniSTS:486675 BIR;HHF2;KIR6.2;MGC133230;PHHI;TNDM3 ATP-sensitive inward rectifier potassium channel 11;IKATP;OTTHUMP00000231509;OTTHUMP00000231510;beta-cell inward rectifier subunit;inward rectifier K(+) channel Kir6.2;inwardly rectifying potassium channel KIR6.2;potassium channel inwardly rectifing subfamily J member 11;potassium channel, inwardly rectifying subfamily J member 11 APPROVED protein-coding ENSG00000187486 HGNC:6257 09022 125853;600937;601820;606176;610582 REVIEWED 1343442 KCNJ9 potassium inwardly-rectifying channel, subfamily J, member 9 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 133120144 133127996 + 160051360 160059212 + 160081561 160090563 + 1580863;6480464;8554872 10341034;10659995;10913335;10956667;11350189;12297500;15911117;16109170;16382105;16710414;17185339;17727731;18391953;19995671;20610389;21637918;8575783 3765 Q92806 ABBA01016617;AF193615;AL121987;AMYH02002019;AMYH02002020;CH471121;NM_004983;U52152;XM_006711305;XM_006711306 AAB07043;AAF89098;AAI67777;EAW52747;NP_004974;Q92806;XP_006711368;XP_006711369 Hs.66726 1651797;1797786;2125721 D1S278E;KCNJ9_2427;RH64482 GIRK-3;GIRK3;KIR3.3 G protein-activated inward rectifier potassium channel 3;G protein-coupled inward rectifier potassium channel;OTTHUMP00000025747;inward rectifier K(+) channel Kir3.3;inwardly rectifier K+ channel KIR3.3;potassium channel, inwardly rectifying subfamily J member 9 2314798;2314801;2315765;2315816;2316338 GLUCO117_H;GLUCO120_H;GLUCO149_H;GLUCO177_H;GLUCO223_H APPROVED protein-coding ENSG00000162728 HGNC:6270 02959 600932 REVIEWED 6481042 KCNJ6-AS1 KCNJ6 antisense RNA 1 q22.13 100874329 AJ003458;AP001430 Hs.580942 KCNJ6-IT1 APPROVED ncrna HGNC:41352 1352992 KCNJ2 potassium inwardly-rectifying channel, subfamily J, member 2 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008] 17 17 17 q24.3 64737556 64748065 + 68164757 68176189 + 70169535 70180044 + 1581471;1580802;6480464;7240710;7247426;7247428;8554872;8699517 12045162;15936845;23543060;23647964 10479680;10559219;10627592;11181181;11240146;11287009;11287423;11371347;11688996;11809752;12032359;12086641;12148092;12163457;12459783;12598232;12923176;14500755;14522976;15024025;15084602;15304517;15465033;15618275;15761194;15795311;15831539;15922306;15958527;16258766;16373386;16382105;16407206;16419128;16533896;16541386;16571646;16637659;16777940;16831831;16834334;16895905;17185339;17210839;17211524;17324964;17341397;17551083;17582433;17619200;18178799;18182162;18216177;18391953;18690034;18854645;19002489;19234473;19305409;19608980;19841300;19843922;19913121;20195514;20301441;20628086;20634891;20676672;20921230;21148745;21281576;21376013;21493816;21501591;21559361;21570948;21703452;21756874;21875779;22186697;22308236;22342860;22399142;22589293;22648509;22863731;22880819;22931594;22995912;23041574;23188060;23251661;23277370;23284291;23396134;23440193;23564459;23595086;23625347;23640888;23644778;23704328;23756044;23867365;24023777;24047492;24227888;24383070;7590287;7680768;7696590;7840300;8821791;9490857;9533862 3759 P63252 ABBA01028924;AC005242;AF011904;AF021139;AF153818;AF153819;AF153820;AMYH02033900;CH471099;CS173015;NG_008798;NM_000891;U12507;U16861;U22413;U24055 AAA64282;AAA91781;AAB50277;AAB88797;AAC39555;AAC50072;AAF73241;AAF73242;AAI52812;CAJ33689;EAW89092;NP_000882;P63252 Hs.1547 1676011;1796196;2114114;2152455;5492777 KCNJ2;KCNJ2_1577;RH48445;RH98566;UniSTS:482479 ATFB9;HHBIRK1;HHIRK1;IRK-1;IRK1;KIR2.1;LQT7;SQT3;hIRK1 cardiac inward rectifier potassium channel;inward rectifier K(+) channel Kir2.1;inward rectifier K+ channel KIR2.1;inward rectifier potassium channel 2;potassium channel, inwardly rectifying subfamily J member 2 APPROVED protein-coding ENSG00000123700 HGNC:6263 02815 170390;600681;609622;613980 REVIEWED 1313992 KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and may be involved in the regulation of insulin secretion by glucose. It associates with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008] 21 21 21 q22.1 24194896 24487265 - 38996778 39288741 - 37624476 37916438 - 1580863;6480464;6483053;6483055;6483052;8554872 20220551;21307845;22178330 10562331;10619846;10659995;10830953;10956667;12034888;12297500;12458027;12477932;12743112;14724209;15068243;15142872;15218035;15489334;15772902;16109170;16382105;16780588;17135278;17185339;18303085;18391953;19135528;19567891;19756153;20379614;20424473;20494980;20655490;20943350;21637918;22252428;22554406;23175530;23739333;23994450;24145411;7550338;7592809;7729621;7796919;7926018;8929423;9023358;9037601;9108307;9503011 3763 P48051 ABBA01000218;ABBA01000219;ABBA01000220;ABBA01000221;AJ001894;AK313997;AMYH02037803;AMYH02037804;AMYH02037805;AMYH02037806;AMYH02037807;AP001407;AP001408;AP001411;AP001416;AP001424;AP001427;AP001430;AP001433;AP001436;AW015013;BC101547;BF110130;CH471079;D87327;DR000377;KC877881;KC877882;KC877884;KC877885;KC877886;KC877887;KC877888;KC877891;KC877893;KF457268;KF457269;KF457270;KF457271;KF457272;KF457273;KF457283;KF495836;KF510557;KF510559;KF510560;KF511413;KF511418;NG_029892;NM_002240;S78685;U24660 AAB34738;AAC50258;AAI01548;BAA13331;BAG36709;EAX09692;NP_002231;P48051 Hs.626242;Hs.658533;Hs.741904 1298173;1337447;1667357;1688237;1724075;1729037;1729782;1730678;1759827;1769811;1790637;1796200;2116788;2118996;2118998;2127113;2139810;2145517;2147995;2149213;2149215;2149611;2149706;2150276;2151406;2154308;2158236;2158783;2174775;2179048;2185190;2185462;2185999 A006A13;D21S1238;D21S1425;D21S1439;D21S1440;D21S233;D21S337;G02353;G20645;G29043;G29044;G29045;G34635;G34693;KCNJ6_880;RH119817;RH18020;RH78100;RH92677;SHGC-10462;SHGC-10469;SHGC-10474;SHGC-10477;SHGC-170067;SHGC-35670;SHGC-51806;SHGC-51857;SHGC-52126;SHGC-52138;SHGC-87628;SHGC-8849;STS_CEB268;UniSTS:143667 BIR1;GIRK-2;GIRK2;KATP-2;KATP2;KCNJ7;KIR3.2;MGC126596;hiGIRK2 G protein-activated inward rectifier potassium channel 2;OTTHUMP00000109101;inward rectifier K(+) channel Kir3.2;inward rectifier potassium channel KIR3.2;potassium channel, inwardly rectifying subfamily J member 6 APPROVED protein-coding HGNC:6267 02929 600877 VALIDATED 732934 KCNK10 potassium channel, subfamily K, member 10 The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008] 14 14 14 q31.3 68692135 68838993 - 88646452 88793256 - 88180108 88326912 - 6480464;8554872 10747911;10880510;11256078;11897838;12477932;16382106;17689202;18516069;19389623;21669980;21890473;23479219;8619474;9110174 54207 G3V5Y5;P57789 ABBA01030532;ABBA01030533;AF279890;AF385399;AF385400;AI693366;AK125389;AK290518;AK313499;AK315263;AL049834;AL133279;AMYH02029696;AMYH02029697;BC075021;BC075022;CH471061;EU978938;EU978939;EU978940;EU978941;NM_021161;NM_138317;NM_138318;U79244 AAG15191;AAH75021;AAH75022;AAL95705;AAL95706;ACH86097;ACH86098;ACH86099;ACH86100;BAF83207;BAG36281;BAG37680;EAW81373;EAW81374;EAW81375;NP_066984;NP_612190;NP_612191;P57789 Hs.560255 1340378;1663128;1736420;1759273;2125757;2128623;2144196;2146895;2149842;2161644;2166338;5023733 AU048745;D14S1058;D14S1253;D14S678E;G35373;G35500;G35889;GDB:313931;SHGC-150900;STS-R38357;WI-20495;Z94611 FLJ43399;K2p10.1;PPP1R97;TREK-2;TREK2 2P domain potassium channel TREK2;OTTHUMP00000244287;OTTHUMP00000244288;OTTHUMP00000244289;TREK-2 K(+) channel subunit;TWIK-related K+ channel 2;outward rectifying potassium channel protein TREK-2;potassium channel TREK-2;potassium channel subfamily K member 10 APPROVED protein-coding ENSG00000100433 HGNC:6273 12061 605873 REVIEWED 68984 KCNK12 potassium channel, subfamily K, member 12 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] 2 2 2 p16.3 47586584 47636146 - 47747914 47797470 - 47520775 47570331 - 67928;1580863;6480464;8554872 11060316 11256078;11263999;12477932;15489334;17081983;18209473;18676988;19890347;24163367 56660 Q9HB15 ABBA01075166;ABBA01075167;AC138655;AF287302;AMYH02003758;BC047749;CH471053;NM_022055 AAG32313;AAH47749;EAX00212;NP_071338;Q9HB15 Hs.591586 1681310;1699856;2114062;2127718 AB060260;D2S2495;RH103535;RH79726 K2p12.1;THIK-2;THIK2 OTTHUMP00000159399;potassium channel subfamily K member 12;tandem pore domain halothane-inhibited potassium channel 2;tandem pore domain potassium channel THIK-2 APPROVED protein-coding HGNC:6274 09562 607366 REVIEWED 68985 KCNK13 potassium channel, subfamily K, member 13 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013] 14 14 14 q32.11 70575304 70699365 + 90528109 90652201 + 90061765 90185857 + 67928;1580863;6480464;8554872 11060316 11256078;12477932;15489334;16382106;16683720;18209473;18516069;20379614;20400778;23870195 56659 Q9HB14 ABBA01030506;ABBA01030507;ABBA01030508;ABBA01030509;AF287303;AL137128;AL355074;AMYH02029721;AMYH02029722;AW117567;BC012779;CH471061;EU978942;NM_022054 AAG32314;AAH12779;ABM84033;ABM87379;ACH86101;EAW81417;NP_071337;Q9HB14 Hs.510191 1649637;1701024;1710942;1760625;1796202;2158255;2163800 D14S922;D14S961;G35936;KCNK13_1417;RH104139;SHGC-144169;SHGC-84444 K2p13.1;THIK-1;THIK1 K2P13.1 potassium channel;OTTHUMP00000244895;potassium channel subfamily K member 13;tandem pore domain halothane-inhibited potassium channel 1;tandem pore domain potassium channel THIK-1 APPROVED protein-coding ENSG00000152315 HGNC:6275 09563 607367 REVIEWED 731904 KCNJ8 potassium inwardly-rectifying channel, subfamily J, member 8 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012] 12 12 12 p11.23 27072901 27082758 - 21917889 21928436 - 21764955 21775566 - 1581700;1580863;1581599;1581698;1581699;1581697;1598645;1598652;729109;6480464 10708603;11984590;12234964;12964027;15857625;16051697;16436388;9399952 10516647;10559219;11007308;11136227;11160857;11825905;11956191;12217870;12356945;12477932;12738227;12934053;15489334;15821440;16382105;16820413;16964409;17081983;18391953;18663158;18996111;19139106;19952277;19959479;20301690;20558321;20624795;20847183;21418633;21836131;22056721;22406554;22410194;22562657;22972803;23369859;25275207;7890693;8595887;9434770;9573340 3764 F5GY12;Q15842 ABBA01067973;AC010185;AK291821;AL546327;AMYH02026170;BC000544;BQ003792;BQ009215;CH471094;D50312;D50315;NM_004982;XM_005253358 AAH00544;ABM82839;ABM86023;BAA08851;BAA08852;BAF84510;EAW96450;EAW96451;NP_004973;Q15842;XP_005253415 Hs.102308;Hs.619408;Hs.741642 1679171;1688402;2113556 KCNJ8_V182;RH80763;RH92325 KIR6.1;uKATP-1 ATP-sensitive inward rectifier potassium channel 8;OTTHUMP00000240074;inward rectifier K(+) channel Kir6.1;inwardly rectifying potassium channel KIR6.1;potassium channel, inwardly rectifying subfamily J member 8 APPROVED protein-coding ENSG00000121361 HGNC:6269 02962 600935 REVIEWED 1345243 KCNK15 potassium channel, subfamily K, member 15 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40083151 40088331 + 43374488 43380954 + 44745847 44752313 + 1580863;6480464 11409881;11431495;11680614;11749039;11780052;12433946;12477932;16382106;17081983;23251661 60598 Q9H427 ABBA01052652;AF257081;AF294350;AF294351;AF294352;AF336342;AL118522;AMYH02037138;BC082981;BC093874;BC143282;CH471077;KF456927;NM_022358 AAG33127;AAH93874;AAI43283;AAK37518;AAK97091;AAK97092;AAK97093;EAW75900;NP_071753;Q9H427 Hs.528664 1772184;2172411 A002B08;D20S1038 K2p15.1;KCNK11;KCNK14;KIAA0237;KT3.3;TASK-5;TASK5;dJ781B1.1 OTTHUMP00000031072;TWIK-related acid-sensitive K(+) channel 5;acid-sensitive potassium channel protein TASK-5;potassium channel subfamily K member 15;potassium channel, subfamily K, member 14;two pore K(+) channel KT3.3;two pore potassium channel KT3.3 APPROVED protein-coding ENSG00000124249 HGNC:13814 09564 607368 REVIEWED 731790 KCNK1 potassium channel, subfamily K, member 1 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] 1 1 1 q42-q43 207020005 207078507 + 233749750 233808258 + 233614004 233672512 + 1580863;2316516;6480464;8554872 17884299 11053038;11165377;11256078;12477932;12855359;14702039;15489334;15820677;16382106;19322201;19571146;19948975;19959478;21139048;21441570;21653227;21906983;21963094;21964404;21987572;21988832;22282804;22699663;8605869;8661042;8978667;9362344;9462864;9832487 3775 O00180;Q5T5E6 ABBA01033079;ABBA01033080;AK090902;AK314016;AL356357;AMYH02002914;AMYH02002915;AMYH02002916;BC018051;BQ022191;CH471098;NM_002245;U33632;U76996;U90065 AAB01688;AAB51147;AAB97878;AAH18051;ABM83309;ABM86521;BAG36727;EAW69989;EAW69990;NP_002236;O00180 Hs.208544 1667349;1672601;1705462;1710860;1796204;1852377;2124772;2133372;2162595 A006F14;G29241;KCNK1_344;RH64590;SHGC-76563;SHGC-83816;SHGC-84204;STS-T89472;WI-20654 DPK;HOHO;K2P1;K2p1.1;KCNO1;TWIK-1;TWIK1 OTTHUMP00000036029;inward rectifying potassium channel protein TWIK-1;potassium channel KCNO1;potassium channel subfamily K member 1;potassium inwardly-rectifying channel, subfamily K, member 1 APPROVED protein-coding ENSG00000135750 HGNC:6272 03447 601745 REVIEWED 1349439 KCNK17 potassium channel, subfamily K, member 17 The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is activated at alkaline pH. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 6 6 6 p21.1 40820048 40835501 - 39266777 39282237 - 39299001 39314461 - 1580863;6480464;8554872 11248242;11263999;12477932;12975309;14574404;15342556;15489334;16382106;18516069;19647252;19910543;21103663;22158537;23391755;24097068 89822 Q96T54 ABBA01038310;ABBA01038311;AF339912;AF358910;AK310582;AK315273;AL136087;AMYH02013589;AY358853;BC025726;BP317866;CH471081;EU978944;NM_001135111;NM_031460;XM_006715239 AAH25726;AAK28551;AAK49533;AAQ89212;ABM82638;ABM85815;ACH86103;BAG37686;EAX03981;NP_001128583;NP_113648;Q96T54;XP_006715302 Hs.162282 K2p17.1;TALK-2;TALK2;TASK-4;TASK4 2P domain potassium channel Talk-2;OTTHUMP00000016346;OTTHUMP00000223189;TWIK-related acid-sensitive K(+) channel 4;TWIK-related alkaline pH-activated K(+) channel 2;acid-sensitive potassium channel protein TASK-4;potassium channel subfamily K member 17 APPROVED protein-coding ENSG00000124780 HGNC:14465 09566 607370 REVIEWED 1345497 KCNK3 potassium channel, subfamily K, member 3 This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008] 2 2 2 p23 26759188 26800097 + 26915581 26954066 + 26692713 26731198 + 1580863;2316516;2316522;6480464;8554872 17884299;18671295 10321245;10575216;10748056;11256078;11680614;11803450;11886861;11907168;12003807;12198146;12433946;12437930;12477932;12837685;15099514;15099524;15197476;15695101;16382106;16420525;16574908;17945357;18375952;18678320;18824070;19188660;19657056;20012522;20049674;20931182;21357689;21362619;21540350;21710317;21838752;22178873;22893713;23164059;23229553;23305490;23772394;23831603;23883380;24015703;24035804;9312005;9721223 3777 B9EIJ4;O14649 ABBA01045187;AC015977;AF006823;AF065163;AMYH02003465;AMYH02003466;BC140701;CH471053;NG_033884;NM_002246;XM_005264293 AAC51777;AAG29340;AAI40702;AAY24312;EAX00678;EAX00679;NP_002237;O14649;XP_005264350 Hs.645288 1337159;1697264;1792766;1796206 DXS8011;KCNK3_888;PMC16288P2;RH102127 K2p3.1;OAT1;PPH4;TASK;TASK-1;TBAK1 OTTHUMP00000155190;TWIK-related acid-sensitive K(+) channel 1;TWIK-related acid-sensitive K+ channel;acid-sensitive potassium channel protein TASK;acid-sensitive potassium channel protein TASK-1;cardiac potassium channel;potassium channel subfamily K member 3;potassium inwardly-rectifying channel, subfamily K, member 3;two P domain potassium channel;two pore K(+) channel KT3.1;two pore potassium channel KT3.1 APPROVED protein-coding HGNC:6278 04451 603220;615344 REVIEWED 1354126 KCNK2 potassium channel, subfamily K, member 2 This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q41 188402753 188634228 + 215178885 215410436 + 215005542 215237093 + 1580863;6480464;8554872 10321245;10784345;11256078;11319549;11319556;12368289;12477932;12878157;14522822;15203218;15685212;15883010;16006563;16250016;16344560;16382106;17035301;17375039;18288090;18474599;18519826;18579071;18579077;18676988;18854423;19130888;19621370;19741570;19837167;19913121;19948975;20083228;20362547;20379614;20628086;20811500;21069514;21262820;21822218;21886777;21964404;21965685;22563662;22811574;23275623;23305490;23479219;23804201;23933981;24154701;24206072;24509840;9003761;9721223 3776 B4DGU6;C9JDK1;C9JXY2;F8WDE6;O95069;Q6ZW95;U3N6F0;U3N834 ABBA01048133;ABBA01048134;ABBA01048135;ABBA01048136;ABBA01048137;ABBA01048138;AC092804;AC099675;AF004711;AF129399;AF171068;AK123409;AK291483;AK294780;AK315249;AL583830;AMYH02002669;AMYH02002670;AMYH02002671;AMYH02002672;AMYH02002673;AMYH02002674;AU280191;AY552980;AY552981;BC069462;BC101693;BC101695;BC143586;CD625291;CD625297;CD625301;CH471100;DA475072;DR001358;EF165334;EF165335;KF182338;KF182339;NM_001017424;NM_001017425;NM_014217;XM_006711307;XR_247027 AAD01203;AAD47569;AAF89743;AAH69462;AAI01694;AAI01696;AAI43587;AAT49015;AAT49016;ABM47413;ABM47414;AGW27105;AGW27106;BAC85609;BAF84172;BAG37671;BAG57907;EAW93347;EAW93348;EAW93349;NP_001017424;NP_001017425;NP_055032;O95069;XP_006711370 Hs.497745 1342325;1655417;1662325;1692560;1693000;2110475;2126397;2139980;2149850;2153895 AL010056;AL033927;AL034226;D1S1602;D1S1666;D1S2141;D1S2475;KCNK2_2527;SHGC-76351;WI-15954 K2p2.1;MGC126742;MGC126744;TPKC1;TREK;TREK-1;TREK1;hTREK-1c;hTREK-1e K2P2.1 potassium channel;OTTHUMP00000035062;OTTHUMP00000035063;OTTHUMP00000216605;OTTHUMP00000216607;OTTHUMP00000216609;TREK-1 K(+) channel subunit;TWIK-related potassium channel 1;outward rectifying potassium channel protein TREK-1;potassium channel subfamily K member 2;potassium channel subfamily k member 2 variant 1;potassium channel subfamily k member 2 variant 2;potassium inwardly-rectifying channel, subfamily K, member 2;tandem-pore-domain potassium channel TREK-1;two pore domain potassium channel TREK-1;two pore potassium channel TPKC1;two-pore potassium channel 1 APPROVED protein-coding ENSG00000082482 HGNC:6277 603219 REVIEWED 1345390 KCNK5 potassium channel, subfamily K, member 5 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008] 6 6 6 p21 40710161 40750667 - 39156747 39197251 - 39188971 39229475 - 1580863;6480464;8554872 10839924;11256078;12477932;12634929;12851074;14702039;15197476;15489334;16382106;18157847;18516069;20582984;20631251;21139048;21314928;21680658;21832049;21906983;21964404;21988832;23251661;23568457;23793025;24285684;8889548;9812978 8645 O95279 ABBA01038308;AF084830;AK001897;AK314298;AL451185;AMYH02013587;AMYH02013588;AMYH02013589;BC060793;BC069573;BU608155;CH471081;EU978936;NM_003740;XM_005249456;XM_006715235 AAC79458;AAH60793;AAH69573;ACH86095;BAG36953;EAX03979;EAX03980;NP_003731;O95279;XP_005249513;XP_006715298 Hs.444448 1336886;1648848;1674687;1797788;2136977 D6S1680;KCNK5_2448;RH17455;RH18520;RH37409 FLJ11035;K2p5.1;TASK-2;TASK2 K2P5.1 potassium channel;OTTHUMP00000016343;TWIK-related acid-sensitive K(+) channel 2;TWIK-related acid-sensitive K+ channel 2;acid-sensitive potassium channel protein TASK-2;potassium channel subfamily K member 5;potassium channel, subfamily K, member 1 (TASK-2) APPROVED protein-coding ENSG00000164626 HGNC:6280 04604 603493 REVIEWED 1319410 KCNK16 potassium channel, subfamily K, member 16 The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008] 6 6 6 p21.2-p21.1 40835738 40843594 - 39282474 39290330 - 39314698 39322554 - 1580863;6480464;8554872 11256078;11263999;12477932;12724142;14574404;16382106;18516069;22158537 83795 D6RC57;Q96T55 ABBA01038311;AF358909;AL136087;AMYH02013589;AY253145;AY253146;AY253147;BC111860;BP387644;CA843225;CH471081;EU978943;FB764117;NM_001135105;NM_001135106;NM_001135107;NM_032115 AAI11861;AAK49532;AAP82866;AAP82867;AAP82868;ACH86102;CAV30657;EAX03982;EAX03983;EAX03984;EAX03985;NP_001128577;NP_001128578;NP_001128579;NP_115491;Q96T55 Hs.287765 K2p16.1;MGC133123;TALK-1;TALK1 2P domain potassium channel Talk-1;OTTHUMP00000016345;OTTHUMP00000223325;OTTHUMP00000223326;OTTHUMP00000223327;OTTHUMP00000223328;TWIK-related alkaline pH-activated K(+) channel 1;pancreatic potassium channel Talk-1;potassium channel subfamily K member 16 APPROVED protein-coding ENSG00000095981 HGNC:14464 09565 607369 REVIEWED 8698960 KCNMA1-AS1 KCNMA1 antisense RNA 1 10 10 q22.3 78647762 78663848 + 76888004 76904090 + 12477932;21708048 101929328 AA634403;ABBA01020239;AC011439;AMYH02023376;BC030624;BX092192;NR_120655;XR_246137;XR_247535;XR_252771 Hs.664552 ncrna HGNC:51213 VALIDATED 1346775 KCNK18 potassium channel, subfamily K, member 18 Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011] 10 10 10 q25.3 112687102 112699920 + 118957000 118969810 + 117197489 117210299 + 1580863;6480464;7240710;8554872 12754259;14981085;15123670;15761153;16382106;16385451;16569637;18397886;18506476;20006580;20215114;20379614;20871611;21855646;22115960;23541583;23911303 338567 Q7Z418 AB087138;ABBA01062947;AL731557;AMYH02023882;NG_028085;NM_181840 AAI48338;AAI52980;BAC78527;NP_862823;Q7Z418 Hs.449650 1782210;2113078 D10S2446;SHGC-172075 K2p18.1;MGR13;TRESK;TRESK-2;TRESK2;TRIK OTTHUMP00000020575;TWIK related spinal cord K+ channel;TWIK-related individual K+ channel;TWIK-related individual potassium channel;TWIK-related spinal cord K+ channel;TWIK-related spinal cord potassium channel;potassium channel subfamily K member 18 APPROVED protein-coding ENSG00000186795 HGNC:19439 17173 613655;613656 REVIEWED 8699140 KCNMA1-AS2 KCNMA1 antisense RNA 2 10 10 q22.3 78900523 78909856 + 77140765 77150100 + 101929310 AA983877;ABBA01020237;AC021032;AMYH02023380;AMYH02023381;HG503037;NR_120654;XR_246136;XR_247536;XR_252770 Hs.666457 ncrna ENSG00000225497 HGNC:51214 VALIDATED 734260 KCNK9 potassium channel, subfamily K, member 9 This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel mental retardation dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 8 8 8 q24.3 136793017 136883509 - 140613081 140715299 - 139600838 139703056 - 729095;1580863;6480464;7240710;8554872;8699517 10734076 10747866;11042359;11249964;11256078;11431495;11749039;11857586;11886861;12433946;12477932;12606773;12676587;12782791;14702039;15197476;15282272;15284350;15322244;15489334;15601307;15781965;15789217;16344560;16382106;17013562;17374744;17547699;17704508;17828294;18094996;18187620;18217213;18375952;18417474;18678320;18824070;18854423;19139046;19703964;20049674;20379614;20931182;21357689;21512417;21540350;21700879;21710317;21761257;21910834;21916012;21946151;22893713;23007462;23164059;23250752;23564779;23772394;24126847;24307172;24342771 51305 Q9NPC2 ABBA01013653;ABBA01013654;AC007869;AF212829;AF248241;AF257080;AF279809;AK090707;AK094401;AK095204;AMYH02018871;AW085193;AX249951;AX407225;AX407227;AY190605;BC034734;BC075079;BC075080;BC112063;BC112065;BX092753;CH471060;DA416784;KF458875;NG_012842;NM_001282534;NR_104210;R38554 AAF63708;AAF85982;AAG31730;AAG33126;AAH75079;AAH75080;AAI12064;AAI12066;AAO38739;CAC88670;CAD35185;CAD35186;EAW92196;EAW92197;EAW92198;NP_001269463;Q9NPC2 Hs.493037;Hs.553147;Hs.664608 1337134;1339934;1727229;1796210 D8S1741;D8S1743;G62869;KCNK9_889 K2p9.1;KT3.2;MGC138268;MGC138270;TASK-3;TASK3 OTTHUMP00000226147;TWIK-related acid-sensitive K(+) channel 3;TWIK-related acid-sensitive K+ channel 3;acid-sensitive potassium channel protein TASK-3;potassium channel TASK3;potassium channel subfamily K member 9;potassium channel, subfamily k, member 9 (task-3);two pore K(+) channel KT3.2;two pore potassium channel KT3.2 APPROVED protein-coding HGNC:6283 16167 605874;612292 REVIEWED 733987 KCNK4 potassium channel, subfamily K, member 4 Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The encoded protein homodimerizes and functions as an outwardly rectifying channel. It is expressed primarily in neural tissues and is stimulated by membrane stretch and polyunsaturated fatty acids. [provided by RefSeq, Jul 2008] 11 11 11 q13 61385692 61394405 + 64058774 64067503 + 64291321 64300031 + 1580863;6480464;8554872 10767409;11042359;11076863;11172753;11230166;11256078;11256614;12191490;12477932;14759258;14996553;15489336;16344560;16381901;16382106;18516069;19913121;20628086;20811500;21988832;22282805;22837380;23341632;24550493 50801 F5GYE0;F5GZ20;Q2YDA1;Q9NYG8 ABBA01003296;AF248242;AF259500;AK296021;AK309443;AMYH02024932;AP001453;AX250709;AX278166;AX278168;BC033577;BC067791;BC110327;CH471076;DB273064;EU978935;NM_033310 AAG31731;AAI10328;AAI60128;AAK49389;ACH86094;BAG58791;CAC93796;CAD10536;CAD10537;EAW74241;EAW74242;EAW74243;NP_201567;Q9NYG8 Hs.647233 1689931 RH98400 K2p4.1;TRAAK1 K2P4.1 potassium channel;OTTHUMP00000236952;OTTHUMP00000236953;OTTHUMP00000236955;OTTHUMP00000236956;TRAAK;TWIK-related arachidonic acid-stimulated potassium channel protein;potassium channel subfamily K member 4;potassium inwardly-rectifying channel, subfamily k, member 4;two pore K(+) channel KT4.1;two pore K+ channel KT4.1;two pore potassium channel KT4.1 APPROVED protein-coding ENSG00000182450 HGNC:6279 12037 605720 REVIEWED 1604643 KCNK7 potassium channel, subfamily K, member 7 This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13 62687036 62690177 - 65360326 65363467 - 65592855 65595996 - 6480464;8554872 10206991;11165377;11256078;12477932;16382106 10089 H0YCM4;H0YEB9;Q3SYI1;Q9Y2U2 ABBA01024108;AF110522;AF110523;AF110524;AMYH02024961;AP001362;BC103809;BC103810;BC103811;CH471076;NM_005714;NM_033347;NM_033348;NM_033455 AAD29578;AAD29579;AAD29580;AAI03810;AAI03811;AAI03812;EAW74411;EAW74412;EAW74413;EAW74414;EAW74415;EAW74416;NP_005705;NP_203133;NP_203134;NP_258416;Q9Y2U2 Hs.175218 1767242;1796208;2190365 D17S2241;KCNK7_346;STS-R80779 K2p7.1;MGC118782;MGC118784;TWIK3 OTTHUMP00000233242;OTTHUMP00000233243;OTTHUMP00000233244;OTTHUMP00000233245;potassium channel subfamily K member 7;potassium channel, subfamily K, member 7, isoform B;two pore domain K+ channel APPROVED protein-coding ENSG00000173338 HGNC:6282 06804 603940 REVIEWED 735903 KCNK6 potassium channel, subfamily K, member 6 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by internal acidification and volatile anaesthetics. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 35612720 35621891 + 38810484 38819654 + 38319831 38333427 + 1580863;6480464 10075682;10206991;10359073;10393428;1088718;10887187;11256078;12477932;14689445;14702039;15489334;16382106;18516069;20029952;21964404;22944692;8125298 9424 B2RDS2;Q9Y257 A94721;ABBA01040679;AC026806;AF117708;AF134149;AF281302;AF281303;AJ297404;AJ297405;AK022344;AK222545;AK315653;AMYH02036068;AX135134;AX135136;BC004367;CH471126;EU978937;NM_004823;XM_005259431;XM_006723508;XM_006723509;XM_006723510 AAD22980;AAD24000;AAG10506;AAG10507;AAH04367;ABM84348;ABM87739;ACH86096;BAD96265;BAG38019;CAB70443;CAC15489;CAC39539;CAC39540;EAW56776;NP_004814;Q9Y257;XP_005259488;XP_006723571;XP_006723572;XP_006723573 Hs.240395 FLJ12282;K2p6.1;KCNK8;TOSS;TWIK-2;TWIK2 K2P6.1 potassium channel;TWIK-originated similarity sequence;TWIK-originated sodium similarity sequence;inward rectifying potassium channel protein TWIK-2;potassium channel subfamily K member 6;potassium channel, subfamily k, member 6 (twik-2) APPROVED protein-coding ENSG00000099337 HGNC:6281 06803 603939 REVIEWED 731981 KCNMA1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q22.3 71914113 72684182 - 78629359 79397577 - 76869601 77637819 - 1580863;6480464;7240710;8554872;8699517 10097176;10489376;10692449;10758170;10840032;11245614;11401860;11604135;11641143;11832330;11880485;11880513;11986367;12009018;12016222;12161564;12223479;12388065;12391293;12434576;12438308;12477932;12566537;14522958;14523450;14584897;14631046;14702039;14715246;15164054;15174051;15194822;15251455;15280542;15489334;15528406;15703204;15849354;15937479;16042390;16081418;16100257;16382103;16385451;16396928;16790810;16895996;16951373;17146446;17150299;17166942;17468961;17483867;17521822;17586600;17591987;17591990;17706472;17901123;17989352;18084004;18162557;18180950;18227273;18316727;18345016;18367663;18385281;18404672;18414909;18458941;18480178;18559348;18719396;18854754;19052171;19096717;19118164;19168436;19204046;19344525;19430934;19456106;19482008;19552602;19617704;19640305;19718020;19738431;20012488;20037152;20051533;20379614;20400778;20424473;20427280;20457834;20479001;20508092;20574420;20624858;20630939;20677014;20808839;20959415;21072171;21078868;21301863;21413024;21613417;21670298;21708048;21724437;21757754;22074915;22140451;22194818;22331907;22446331;22474334;22504420;22538239;22710124;22896041;22899999;23232643;23237801;23255603;23267835;23508624;23626738;23831469;23992640;24067659;24127525;24260325;24414257;24457600;24569989;24602615;24696148;7573516;7687074;7877450;7987297;7993625;8006036;8612769;8821792;8962157;9391153;9829973 3778 B7ZMF5;D5MRH1;H0Y379;H0Y382;H0Y406;H0Y5Z6;H0Y606;J3KQ16;Q12791;Q59FH2;Q5SVJ7;Q5SVJ8;Q5SVJ9;Q5SVK0;Q5SVK3;Q5SVK5;Q6AI34;S4R2X4;S4R453 AB113382;AB113575;AB209488;AB524033;ABBA01020232;ABBA01020233;ABBA01020234;ABBA01020235;ABBA01020236;ABBA01020237;ABBA01020238;ABBA01020239;AC011439;AC021032;AC067745;AF025999;AF118141;AF349445;AK024857;AK055362;AK124355;AK128392;AK310379;AL157833;AL607069;AL627447;AL731556;AL731560;AL731575;AMYH02023376;AMYH02023377;AMYH02023378;AMYH02023379;AMYH02023380;AMYH02023381;AMYH02023382;AY040849;AY445624;BC009695;BC024965;BC062659;BC137115;BC137137;BC144496;BQ574058;BX648925;CH471083;CR627384;NG_012270;NM_001014797;NM_001161352;NM_001161353;NM_001271518;NM_001271519;NM_001271520;NM_001271521;NM_001271522;NM_002247;U02632;U09384;U11058;U11717;U13913;U23767;XM_005269776;XM_005269778;XM_005269779;XM_005269780;XM_005269781;XM_005269785;XM_005269787;XM_005269789;XM_005269792;XM_005269795;XM_005269796;XM_005269797;XM_005269800;XM_005269801;XM_005269803;XM_005269804;XM_006717821;XM_006717822;XM_006717823;XM_006717824;XM_006717825;XM_006717826;XM_006717827;XM_006717828;XM_006717829;XM_006717830 AAA50173;AAA50216;AAA85104;AAA92290;AAB65837;AAB88802;AAC50353;AAD31173;AAH62659;AAI37116;AAI37138;AAI44497;AAK30158;AAK91504;AAS01054;BAD06365;BAD06397;BAD92725;BAJ07308;CAH10480;EAW54597;EAW54598;EAW54599;EAW54600;EAW54601;EAW54602;NP_001014797;NP_001154824;NP_001154825;NP_001258447;NP_001258448;NP_001258449;NP_001258450;NP_001258451;NP_002238;Q12791;XP_005269833;XP_005269835;XP_005269836;XP_005269837;XP_005269838;XP_005269842;XP_005269844;XP_005269846;XP_005269849;XP_005269852;XP_005269853;XP_005269854;XP_005269857;XP_005269858;XP_005269860;XP_005269861;XP_006717884;XP_006717885;XP_006717886;XP_006717887;XP_006717888;XP_006717889;XP_006717890;XP_006717891;XP_006717892;XP_006717893 Hs.144795 1334704;1336331;1341680;1652088;1652150;1653269;1654508;1662572;1667577;1668626;1683391;1697412;1706042;1706262;1712561;1718205;1731112;1744221;1751469;1751843;1754053;1754109;1754567;1755799;1757337;1760953;1765615;1778363;1847333;1854339;1855695;2114372;2134213;2134690;2161656;2172002;2178886;2183182;2186806;5017481;7185534 A003B45;D10S109;D10S1730;D10S2223;D10S2255;D10S2291;D10S2368;D10S2378;D10S307;D10S605;G09279;G10716;G17456;G17472;GDB:438010;KCNMA1;NIB1917;RH102206;RH11276;RH122872;RH41997;RH45858;RH92037;SHGC-105266;SHGC-105839;SHGC-132094;SHGC-132140;SHGC-132853;SHGC-142644;SHGC-144741;SHGC-144912;SHGC-149064;SHGC-53476;SHGC-78665;SHGC-80677;STS-U13913;U09383;WI-13549;WI-15110;WI-18797 BKTM;DKFZp686K1437;KCa1.1;MGC71881;SLO;SLO-ALPHA;SLO1;bA205K10.1;hSlo;k(VCA)alpha;mSLO1 BK channel;BK channel alpha subunit;BKCA alpha subunit;Drosophila slowpoke-like;MaxiK;OTTHUMP00000019904;OTTHUMP00000019905;OTTHUMP00000019906;OTTHUMP00000019907;OTTHUMP00000019908;OTTHUMP00000019909;OTTHUMP00000019910;OTTHUMP00000019911;OTTHUMP00000019912;OTTHUMP00000019913;OTTHUMP00000019914;SAKCA;calcium-activated potassium channel subunit alpha-1;calcium-activated potassium channel, subfamily M subunit alpha-1;maxi K channel;maxi-K channel HSLO;slo homolog;slowpoke homolog;stretch-activated Kca channel APPROVED protein-coding ENSG00000156113 HGNC:6284 15967 600150;609446 REVIEWED 1343155 KCNMB4 potassium large conductance calcium-activated channel, subfamily M, beta member 4 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008] 12 12 12 q 70423736 70488648 + 70760062 70828072 + 70366282 70434292 + 6480464 10692449;10758170;10792058;10804197;10828459;11790768;12136044;12223479;12477932;14702039;15489334;17913586;18559348;18981408;19204046;19578543;21848922;23623847;24414257 27345 H0YC85;Q86W47 A94697;ABBA01026523;ABBA01026524;AC025569;AF160967;AF207992;AF215891;AK054684;AMYH02026723;BC037898;BC042446;BC047427;BC050621;BM805224;BU556960;CH471054;NM_014505;XR_245917 AAF28333;AAF69805;AAF75596;AAH42446;AAH50621;CAB70439;EAW97251;NP_055320;Q86W47 Hs.525529 1649522;1649524;1664401;1668201;1682067;1698898;1728515;1787866;1796214;2162396;2173296;2173298;2174891;5015619;5022651 A004H24;A005A38;A005R39;BCD1535;D11S2921;D11S3114;G20225;G20451;G63695;KCNMB4_893;RH103017;RH94337;SHGC-173523;WI-12177;WI-22339 BKbeta4;hbeta4;k(VCA)beta-4 BK channel subunit beta-4;OTTHUMP00000236251;calcium-activated potassium channel subunit beta-4;calcium-activated potassium channel, subfamily M subunit beta-4;charybdotoxin receptor subunit beta-4;large conductance calcium-dependent potassium ion channel beta 4 subunit;maxi K channel subunit beta-4;slo-beta-4 APPROVED protein-coding ENSG00000135643 HGNC:6289 05564 605223 REVIEWED 8698823 KCNMA1-AS3 KCNMA1 antisense RNA 3 10 10 79114974 79116578 + 77355212 77356820 + 101929286 ABBA01020235;AL627447;AMYH02023381;XR_246135;XR_247537;XR_252769 ncrna HGNC:51215 MODEL 734125 KCNN2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 5 5 5 q22.3 109645171 109779247 + 113698016 113832197 + 114361844 114496500 + 1580863;6480464;6907045;7204683;8554872 21942705 10559207;10713270;10758170;10991935;11146124;11323678;11395478;11527975;12477932;12778407;13679367;14702039;15362045;16382103;16396931;17110593;17452806;19139040;19815520;20972266;21906983;22154908;23251661;23525437;23602568;23677057;24434522 3781 D6RGY7;Q9H2S1 ABBA01069039;ABBA01069040;AC025761;AC109482;AF239613;AF397175;AK090521;AK289948;AMYH02011995;AY258141;BC015371;BC040722;BC117454;BC117456;BG477734;BG769522;CH471086;KF459898;NM_001278204;NM_021614;NM_170775;NR_103458;XM_006714613 AAG16728;AAH15371;AAI17455;AAI17457;AAK84039;AAP45946;BAF82637;EAW48975;EAW48976;NP_001265133;NP_067627;NP_740721;Q9H2S1;XP_006714676 Hs.98280 1340888;1724009;1755555;2217518 D5S2065;KCNN2_3214;RH118957;SHGC-142407 KCa2.2;SK2;SKCA2;SKCa 2;hSK2 OTTHUMP00000159056;OTTHUMP00000222906;apamin-sensitive small-conductance Ca2+-activated potassium channel;small conductance calcium-activated potassium channel protein 2 APPROVED protein-coding ENSG00000080709 HGNC:6291 09323 605879 REVIEWED 1343870 KCNMB2 potassium large conductance calcium-activated channel, subfamily M, beta member 2 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013] 3 3 3 q26.32 176655757 176991073 + 178254086 178562217 + 178536298 178844429 + 1580863;6480464;8554872 10097176;10377337;10692449;10758170;10766764;10792058;11181995;11517232;12136044;12477932;12566540;14522958;15489334;16344560;16446507;17460083;17521822;19204046;19684603;20859064;21832049;22688191;23291589;23825428;24414257;24529757;8889548 10242 B5BNW5;B7Z513;E7EM81;E7ETM2;F8WE19;Q9Y691 AA904191;AB193524;AB193525;AB193526;AB193527;AB193528;AB193529;AB193530;ABBA01058547;ABBA01058548;AC024220;AC092929;AC117457;AC139661;AF099137;AF209747;AK298291;AMYH02008212;AMYH02008213;AMYH02008214;BC017825;BF434939;BG701449;BM983559;CH471052;DA532966;NM_001278911;NM_005832;NM_181361 AAD23380;AAF36562;AAH17825;ABM82937;ABM86126;BAG69602;BAG69603;BAG69604;BAG69605;BAG69606;BAG69607;BAG69608;BAH12749;EAW78428;EAW78429;EAW78430;EAW78431;NP_001265840;NP_005823;NP_852006;Q9Y691 Hs.478368 1338534;1710742;1796212;2111073;2148663;2155426;2155870 1214;D3S1500E;D3S3730;G19162;KCNMB2_891;SHGC-77567;SHGC-84001 BKbeta2;MGC22431;hCG1646471;hbeta2;hbeta3;k(VCA)beta-2;slo-beta-2 BK channel subunit beta-2;MaxiK channel beta 2 subunit;OTTHUMP00000211869;OTTHUMP00000211870;OTTHUMP00000211871;OTTHUMP00000211872;OTTHUMP00000211874;calcium-activated potassium channel subunit beta-2;calcium-activated potassium channel, subfamily M subunit beta-2;charybdotoxin receptor subunit beta-2;large conductance calcium-activated potassium channel beta 2 subunit;large-conductance Ca2+-activated K+ channel beta2 subunit;maxi K channel subunit beta-2 APPROVED protein-coding ENSG00000197584 HGNC:6286 05557 605214 REVIEWED 1347636 KCNMB3P1 potassium large conductance calcium-activated channel, subfamily M, beta member 3 pseudogene 1 22 22 22 q11 683616 685957 - 17061456 17063795 - 16580566 16582905 - 1580863 10585773;15461802;20424473 27093 ABBA01001469;AMYH02037978;AP000365;AP000547;NG_002679 1797790;2183943 KCNMB3_1988;RH65790 KCNMB2L;KCNMB3L;KCNMB3L1;KCNMBLP APPROVED pseudo HGNC:6288 INFERRED 733381 KCNN3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 1 1 1 q21.3 127751520 127913779 - 154669938 154842754 - 154697462 154870278 - 1358338;1358671;6480464;7204683;8554872 12007452;21942705;9672903 10026195;10395215;10732800;10758170;11121173;11146124;11311923;11369031;11395478;11501944;11526470;11532529;11803450;11807415;12434576;12457234;12477932;12497613;12778407;12808432;12898569;12960745;14559917;14638680;14978258;15389773;16086287;16162291;16382103;16393881;17061167;17101631;17207965;17869187;18227067;18519826;19058789;19336370;19472917;19646982;20173747;20360009;20379614;20468064;20872144;20933057;20972266;21266667;21398315;21433290;21832049;21906983;22019810;22030984;22416006;22544366;22947283;22952906;23018797;23251661;23499625;23511633;23535732;23727510;23774210;23792675;24206670;24434522;8781233;8896557;9491810 3782 Q9UGI6 AA284005;ABBA01016726;ABBA01049493;AF031815;AF336797;AF438203;AJ251016;AK310077;AL390204;AL606500;AL954342;AMYH02001931;AMYH02001932;AMYH02001933;AMYH02001934;AW135188;AY049734;AY138900;AY138901;AY258142;BC030100;BC042147;CH471121;NG_016807;NM_001204087;NM_002249;NM_170782;Y08263 AAC26099;AAH42147;AAK15345;AAL10706;AAL40801;AAN46636;AAN46637;AAP45947;ADQ32897;CAA69590;CAB61331;EAW53179;EAW53180;EAW53181;EAW53182;NP_001191016;NP_002240;NP_740752;Q9UGI6 Hs.490765 1652379;1691976;1709448;1758007;1761661;1761663;1765495;1796216;2114461;2144943;5020948;5022200;5022578;5022588;5024039;5037552 AF021127;AL033640;D16S325;D1S1423;D5S1597E;D8S2279;G16005;G35510;KCNN3_897;L18426;SHGC-145644;SHGC-145645;SHGC-147087;SHGC-148977;SHGC-81767;STS-Y08263 KCa2.3;SK3;SKCA3;SKCa 3;hSK3 OTTHUMP00000035369;OTTHUMP00000035370;OTTHUMP00000035371;small conductance calcium-activated potassium channel protein 3 APPROVED protein-coding ENSG00000143603 HGNC:6292 04283 602983 REVIEWED 733456 KCNMB1 potassium large conductance calcium-activated channel, subfamily M, beta member 1 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008] 5 5 5 q34 165837099 165848570 - 169805165 169816681 - 170378161 170389677 - 69871;1581719;1581718;1580863;1298970;6480464;7240710;8554872 14551242;16155733;16293791;9888999 10489376;10792058;11790768;11994272;12011654;12136044;12223479;12434576;12477932;12670831;12893878;12962281;14522958;15057310;15489334;15528406;15671602;16002321;16189514;16344560;16446507;17496725;17700361;18418400;18496125;18535015;18660489;18854753;19050450;19057512;19204046;19282863;19289549;19295429;19430934;19801679;19913121;20424473;20457834;20628086;20861615;20966391;21413024;22114151;23255603;23825428;24569989;8006036;8612769;8764643;8799178 3779 AAB39373;Q16558 AA464625;ABBA01044097;AC134820;AF026002;AF035046;AK313979;AMYH02012719;AY044441;AY515264;BC025707;CH471062;DA619309;NG_011452;NG_011538;NM_004137;U25138;U38907;U42600;U42601;U42603;U61536;U61537 AAA81327;AAB02394;AAB16825;AAB16826;AAB16827;AAB39373;AAB61396;AAB61397;AAB88805;AAH25707;AAK95827;AAS20193;BAG36693;EAW61474;EAW61475;EAW61476;NP_004128;Q16558 Hs.484099;Hs.744947 1778426;2217516 KCNMB1_3183;RH79077 BKbeta1;K(VCA)beta;SLO-BETA;hbeta1;hslo-beta;k(VCA)beta-1;slo-beta-1 BK channel beta subunit;BK channel subunit beta-1;BKbeta;Maxi K channel beta subunit;OTTHUMP00000160996;calcium-activated potassium channel subunit beta;calcium-activated potassium channel subunit beta-1;calcium-activated potassium channel, subfamily M subunit beta-1;charybdotoxin receptor subunit beta-1;large conductance Ca2+-activated K+ channel beta 1 subunit;maxi K channel subunit beta-1 APPROVED protein-coding HGNC:6285 10358 603951;608622 REVIEWED 5688621 KCNQ1-AS1 KCNQ1 antisense RNA 1 p15.5 338653 AC013791;AJ251642 Hs.639425 APPROVED ncrna HGNC:42790 732698 KCNN4 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 41074253 41088976 - 44270685 44286269 - 43766533 43782117 - 729207;1580863;6480464;7204683 21942705;9380751 10026195;10758170;10880439;10961988;11425865;12198491;12421833;12434576;12477932;12493744;12609997;12612194;12773623;14724753;14754884;15039018;15339840;15452196;15489334;15817638;15965951;16251351;16382103;16766578;17151145;17157250;17310992;17353352;17470662;17474152;17585114;17762175;18184876;18227067;18287336;18367588;18547995;18688283;18690018;18792407;18796614;19052260;19270724;19406468;19409928;19587117;19608980;19644414;19823864;20036632;20407432;20501432;20712009;20720181;20808839;21123738;21139048;21172909;21228320;21345794;21465474;21551009;21725609;21828287;21872912;21890473;21906983;21987572;23000965;23261940;23345219;23392713;23407879;23535729;23572150;23589888;23609438;23720748;23792675;23904164;23949222;24138859;24146918;24158513;24227782;24312257;24392001;24963668;9326665;9407042;9693050 3783 D1MQ08;D1MQ09;M0QZ70;M0R1J0;M0R2E8;M0R2F1;O15554 A95651;AB128983;AB128984;AB128985;ABBA01040868;AC115522;AF000972;AF022150;AF022797;AF033021;AF053403;AF305731;AF305735;AF395661;AMYH02036173;AMYH02036174;BC015337;BT007426;CH471126;HC874393;NM_002250;XM_005258882;XM_005258883;XM_005258886 AAB82739;AAC23541;AAC35281;AAC36804;AAC51913;AAG26917;AAH15337;AAK81862;AAP36094;ABM82419;ABM85610;BAI52725;BAI52726;BAI52727;CAB70490;CBM42811;EAW57229;EAW57230;NP_002241;O15554;XP_005258939;XP_005258940;XP_005258943 Hs.10082 1339729;1664267;1778262;7185286;7185560 D19S217;RH47242;SHGC-33130 IK1;IKCA1;KCA4;KCa3.1;SK4;SKCa 4;SKCa4;hIKCa1;hKCa4;hSK4 intermediate conductance calcium-activated potassium channel protein 4;putative Gardos channel;putative erythrocyte intermediate conductance calcium-activated potassium Gardos channel APPROVED protein-coding ENSG00000104783 HGNC:6293 04130 602754 REVIEWED 1349407 KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012] 11 11 11 p15 2696616 2756067 - 2629558 2721228 - 2608328 2699998 - 6480464;7240710;8699517;8554872 10220444;10369866;10393948;11813134;12136243;12439823;12772698;14627666;14702039;15007390;15233993;15340049;15372379;15851119;15888726;15952111;16575194;16950814;16965397;18079696;18249379;18299392;18762571;18951091;19178079;19494037;19617707;19711451;20301568;20581827;20618351;21345374;21420679;21780245;21915889;21920939;22119056;22300968;22386265;22610651;23040914;23153226;23984860;24165912;24934635;7566098;8889549 10984 AA155694;ABBA01032083;AC021424;AC124055;AF086011;AK123073;AMYH02024192;AMYH02024193;AMYH02024194;NG_008935;NG_016178;NR_002728 Hs.604823;Hs.741312 1657546;1676700;1679762;1682626;1793408;1793410;2171707 PMC21842P1;PMC21842P2;RH17571;RH48362;RH94222;RH98704;WI-16373 FLJ41078;KCNQ1-AS2;KCNQ10T1;KvDMR1;KvLQT1-AS;LIT1;NCRNA00012 APPROVED ncrna ENSG00000269821 HGNC:6295 130650;604115 REVIEWED 731634 KCNN1 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 17963835 18011634 + 18062111 18110133 + 17951302 17999324 + 69872;1580863;6480464;7204683 21942705;8781233 10516439;10683185;10758170;11146124;11258935;11844726;12477932;12598727;15489334;16382103;17474147;19850743;20972266;22082156;22154908;24250222;24434522 3780 B4DP30;Q92952;V9GYV2 AB198191;ABBA01051238;ABBA01051239;ABBA01051240;ABBA01051241;ABBA01051242;AC005602;AC020904;AF131948;AK298170;AMYH02035715;AMYH02035716;AMYH02035717;AMYH02035718;AW594619;BC075037;BE504989;CH471106;NG_029893;NM_002248;U69883;XM_005259905;XM_005259906;XM_005259907;XR_244072 AAB09562;AAD37507;AAH75037;BAD86831;BAG60442;EAW84646;EAW84647;NP_002239;Q92952;XP_005259962;XP_005259963;XP_005259964 Hs.158173 1334612;1850539;2179858 D19S1037;D4S2293;SHGC-30545 KCa2.1;SK1;SKCA1;SKCa 1;hSK1 small conductance calcium-activated potassium channel protein 1;small-conductance calcium-activated potassium channel APPROVED protein-coding HGNC:6290 04282 602982 REVIEWED 1349570 KCNQ1DN KCNQ1 downstream neighbor (non-protein coding) Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM, Mar 2008] 11 11 11 p15.4 2925967 2928039 + 2891263 2893335 + 2870033 2872105 + 11056398;11063728;12477932;15489334;22067257 55539 Q9H478 AB039920;ABBA01032080;AC001228;AC013791;AJ404617;AMYH02024194;BC098159;BC098256;BC098319;BC098344;CH471158;NR_024627 CAB95125;EAX02523;Q9H478 Hs.127821 BWRT;HSA404617 APPROVED ncrna ENSG00000237941 HGNC:13335 17174 610980 VALIDATED 1323526 KCNMB3 potassium large conductance calcium-activated channel, subfamily M beta member 3 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009] 3 3 3 q26.3-q27 177388403 177415818 - 178957537 178984838 - 179239749 179267050 - 1580863;6480464 10585773;10692449;10758170;10766764;10792058;10828459;10864947;11382808;11382809;12136044;12477932;12740608;14612589;16958040;18591419;18830713;19204046;23826284;24324551 27094 Q9NPA1 ABBA01058542;ABBA01058543;AC007823;AC076966;AF139471;AF160968;AF170916;AF204159;AF204160;AF204161;AF204162;AF214561;AI990131;AK304837;AMYH02008222;BC082272;BC113851;BM745010;CH471052;NM_001163677;NM_014407;NM_171828;NM_171829;NM_171830;NR_028135 AAD54771;AAF36598;AAF67811;AAF89698;AAF97031;AAF97032;AAF97033;AAF97034;AAI52861;BAH14265;EAW78417;EAW78418;EAW78419;EAW78420;EAW78421;NP_001157149;NP_055222;NP_741979;NP_741980;NP_741981;Q9NPA1 Hs.591285 1754551;1797790;1851173;2109487;2139946;2183943 KCNMB3_1988;LRRFIP1__6241;RH45754;RH65790;SHGC-132833;SHGC-53062 BKBETA3;HBETA3;KCNMB2;KCNMBL;SLOBETA3 BK channel subunit beta-3;K(VCA)beta-3;OTTHUMP00000211971;OTTHUMP00000211972;OTTHUMP00000211973;OTTHUMP00000211974;OTTHUMP00000211975;OTTHUMP00000217170;calcium-activated potassium channel regulatory subunit;calcium-activated potassium channel subunit beta-3;calcium-activated potassium channel, subfamily M subunit beta-3;charybdotoxin receptor subunit beta-3;large conductance, voltage and Ca2+ activated potassium channel Maxi K beta 3 subunit;maxi K channel subunit beta-3;slo-beta-3 APPROVED protein-coding ENSG00000171121 HGNC:6287 05563 605222 REVIEWED 6481344 KCNQ5-AS2 KCNQ5 antisense RNA 2 100873996 AL049845 APPROVED miscrna HGNC:40322 6770693 KCNQ5-IT1 KCNQ5 intronic transcript 1 (non-protein coding) 6 6 6 q13 73733623 73781482 + 73340085 73388282 + 72630426 72678558 + 100507381 ABBA01040299;ABBA01040300;AL049845;AL671823;AMYH02013897;BX104605;FO393414;HG499375;HY037383;NR_120503;XR_158796;XR_159465;XR_171586;XR_426060;XR_427984;XR_432038 Hs.662412 5113036 RH92149 RP3-485C17.1 ncrna HGNC:41354 VALIDATED 736263 KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4 The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p34 39531891 39588392 + 41249684 41306124 + 40784012 40840452 + 1600303;1580863;6480464;7240710;8554872;8699517 10369879 10025409;10571947;10713961;10925378;11042367;11245603;12112653;12484650;12524525;15304482;15660259;16344560;16382104;16823764;16917933;17033161;17237198;17329207;17568767;18030493;18786918;18797286;18941426;19523148;20200978;20301388;20301607;20739290;20832469;20966080;21242547;21651318;21730298;22101641;22420747;23399560;23431407;23443030;23554485;23717403;23750663;24297175;24927567 9132 B3KQH8;H0Y6N7;P56696 ABBA01023160;ABBA01023161;AC119677;AF105202;AF105216;AK074957;AMYH02000862;AMYH02000863;AMYH02000864;CA411644;CH471059;DA782056;KF495919;NG_008139;NM_004700;NM_172163 AAD14680;AAD14681;BAG52040;EAX07197;NP_004691;NP_751895;P56696 Hs.473058 1763019;1763087;1766007;2153362 SHGC-146764;SHGC-146823;SHGC-149399;SHGC-74653 DFNA2;DFNA2A;KV7.4 KQT-like 4;OTTHUMP00000009219;OTTHUMP00000220901;OTTHUMP00000220902;potassium channel KQT-like 4;potassium channel subunit alpha KvLQT4;potassium voltage-gated channel subfamily KQT member 4;potassium voltage-gated channel, subfamily q, member 4;voltage-gated potassium channel subunit Kv7.4 APPROVED protein-coding ENSG00000117013 HGNC:6298 04641 600101;603537 REVIEWED 735595 KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3 This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] 8 8 8 q24 129316946 129668720 - 133133105 133493004 - 132120858 132480757 - 1580863;6480464;7240710;8554872;8699517 10025409;10479678;10684873;10713399;10713961;10781098;10788442;10852552;10908292;10953053;11034315;11159685;12032157;12147327;12223552;12477932;12524525;12640002;12832524;12890507;12928862;14534157;14702039;15304482;15483133;16235065;16319223;16382104;16525039;16721610;16735477;16990515;18089837;18166285;18249525;18425618;1859177;18625963;18676988;18786918;18790849;19464834;19913121;20379614;20437616;20610766;20628086;21730298;21976501;21980481;22334706;22447848;23002961;23087646;23146207;23209695;23271449;23360469;23596459;23870195;24333508;24375629;24646441;24843134;24851285;8102508;9425900;9677360;9836639;9872318 3786 E7ET42;O43525 AB208890;ABBA01014210;ABBA01014211;ABBA01014212;ABBA01014213;AC018540;AC123776;AC131042;AC136373;AF033347;AF071478;AF071491;AK094705;AK095711;AK296293;AMYH02018804;AMYH02018805;AMYH02018806;AMYH02018807;AMYH02018808;AV728013;BC128576;BX538233;CH471060;CS327666;NG_008854;NM_001204824;NM_004519;XM_005250913;XM_005250914;XM_006716554;XM_006716555 AAB97314;AAC96101;AAI28577;AAI52756;BAD92127;BAG58996;CAL00146;EAW92141;EAW92142;NP_001191753;NP_004510;O43525;XP_005250970;XP_005250971;XP_006716617;XP_006716618 Hs.374023 1339115;1340823;1652829;1654153;1698028;1726777;1735830;1748489;1759235;1764075;1770997;1780194;1796220;2113894;2122403;2182647;7184692;7185317;7185460 AB047879;D8S1431E;D8S1835;D8S295E;D8S558;G62778;KCNQ3_350;RH102545;RH47376;RH47380;SHGC-147728;SHGC-150710;SHGC-154560;SHGC-582;STS-AA033801;WI-14883 BFNC2;DKFZp686C0248;EBN2;FLJ37386;FLJ38392;KV7.3 KQT-like 3;OTTHUMP00000174705;OTTHUMP00000227140;OTTHUMP00000227141;potassium channel subunit alpha KvLQT3;potassium channel, voltage-gated, subfamily Q, member 3;potassium voltage-gated channel subfamily KQT member 3;voltage-gated potassium channel subunit Kv7.3 APPROVED protein-coding ENSG00000184156 HGNC:6297 09077 121201;602232 REVIEWED 6481347 KCNQ5-AS1 KCNQ5 antisense RNA 1 6 6 73844526 73853237 - 73134803 73143514 - 100873997 ABBA01040303;AL365232;AMYH02013902;BM552969;HG499376;NR_046621 Hs.741819;Hs.743196 1817024;1921592 ECD09561;REN31619 RP11-257K9.2 APPROVED ncrna ENSG00000229154 HGNC:40323 PREDICTED 1353354 KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 11 p15.5 2501049 2905069 + 2466221 2870340 + 2444991 2849110 + 1580507;1580508;1580509;1580863;1580502;2317967;1581602;6480464;6907045;1580497;7240710;7247625;7247613;8554872;8699517 12051962;12522251;15120704;15389592;15840476;16368876;18587108;22199116;9312006 10024302;10090886;10220144;10220146;10367071;10400998;10409658;10482963;10646604;10654932;10704188;10713961;10728423;10843888;10970817;10973849;11076863;11101505;11104781;11136691;11289718;11299204;11743032;11761407;11799244;11877438;11997281;12080180;12324418;12402336;12442276;12477932;12482884;12511562;12524525;12612194;12670483;12690509;12820704;12849668;14510661;14576198;14661677;14678125;14731347;14743216;14756674;14760488;14761891;14998624;15028050;15051636;15159330;15176425;15226366;15234419;15242738;15340049;15367556;15459184;15511625;15534720;15649981;15696484;15707997;15746444;15851119;15904893;15924777;16129795;16132053;16155735;16246960;16253915;16308347;16382104;16414944;16487223;16487842;16540748;16556865;16556866;16563243;16610241;16631607;16723781;16818214;16823764;16880338;16987820;17010804;17016049;17130521;17161064;17210839;17227916;17255364;17289006;17292394;17310097;17384445;17467630;17470695;17474147;17482572;17534376;17544529;17596298;17626898;17646758;17676362;17698596;17853647;17905336;17916649;17932138;17980676;17984373;17997361;17999538;18079560;18093912;18165683;18174212;18192214;18266681;18279388;18308161;18390900;18400097;18426444;18441444;18464913;18504315;18567635;18580685;18590565;18596570;18599533;18611041;18651418;18711366;18711367;18713323;18752142;18757482;18774102;18803136;18808722;18931301;18991055;19006182;19027783;19029186;19056345;19077539;19114714;19131515;19139916;19149796;19156197;19160088;19167356;19198868;19202166;19218243;19247372;19252135;19261104;19289549;19305408;19305409;19308350;19322600;19340287;19348785;19366866;19372218;19401414;19448982;19490272;19502414;19516902;19521339;19523148;19540844;19551538;19556355;19575309;19584308;19590188;19617707;19632626;19646991;19714318;19716085;19741467;19798621;19808498;19817925;19825999;19841300;19843919;19850681;19880070;19892838;19907016;19913121;19913547;19933996;19934648;19940153;19956635;19959132;20031635;20040519;20044973;20056949;20062063;20071715;20085748;20108749;20138589;20139709;20174558;20186784;20203524;20226272;20301308;20301568;20301579;20368164;20379614;20386770;20400777;20421371;20424473;20470906;20479109;20490451;20509872;20512086;20526338;20533308;20541041;20553101;20581827;20606385;20628086;20662986;20682687;20701788;20802253;20816152;20833965;20850564;20851114;20855658;20861072;20875080;20879858;20881960;20889853;20890437;20920651;20940310;20962273;20981542;21059661;21063070;21063774;21070882;21084310;21084694;21118729;21118809;21129503;21149716;21164565;21185499;21212535;21228319;21231794;21241800;21261977;21320432;21355884;21416855;21451124;21459285;21573907;21691061;21709633;21730298;21767287;21799836;21810471;21844197;21854832;21957902;22024150;22095730;22151254;22206064;22250012;22293141;22309168;22377714;22403629;22406554;22456477;22479571;22508963;22509038;22539601;22560601;22613981;22696034;22708720;22727609;22790062;22805606;22882672;22905262;22908235;22923468;22961080;23000022;23092362;23107108;23133642;23139357;23144361;23166209;23241319;23271129;23291057;23324056;23350853;23359697;23364967;23392653;23400408;23447643;23529131;23542581;23571586;23630301;23631430;23650380;23692438;23710137;23714088;23786590;23788249;23853484;23856471;23861489;23890619;23945395;23975432;23995044;24052033;24070608;24101674;24142691;24165912;24184248;24190995;24214981;24284363;24366043;24373634;24390345;24552659;24606221;24827085;24855057;24912595;8528244;8818942;8872472;8900283;9020845;9020846;9024139;9108097;9164812;9272155;9302275;9305853;9323054;9386136;9482580;9570196;9641694;9693036;9702906;9781056;9799083;9927399 3784 E9PPZ0;F8W824;P51787;Q96AI9 AB015163;ABBA01032081;ABBA01032082;ABBA01032083;ABBA01032084;ABBA01032085;ABBA01032086;ABBA01032087;ABBA01032088;AC001228;AC013791;AC021424;AC124055;AC124057;AF000571;AF003743;AF051426;AI439544;AI473902;AJ006343;AJ006344;AJ006345;AK129678;AK290618;AMYH02024192;AMYH02024193;AMYH02024194;AP006463;AY114213;BC017074;BC113545;CH471158;EF010934;EF010935;KF455303;KF455304;KF455305;KF455306;KF459741;NG_008935;NM_000218;NM_181798;U86146;U89364 AAB53974;AAC00066;AAC05705;AAC51776;AAC51781;AAH17074;AAI11848;AAI13546;AAM94040;ABJ98773;ABJ98774;ADR83214;BAA34738;BAA34739;BAF83307;CAB44649;CAB44650;EAX02517;EAX02518;EAX02519;EAX02520;EAX02521;NP_000209;NP_861463;P51787 Hs.95162 1336629;1337754;1338995;1657546;1676700;1679762;1682626;1703636;1710804;1737721;1737727;1737733;1760833;1766891;1778557;1793182;1793408;1793410;1793440;1796218;2111944;2111948;2118986;2151783;2171707 D10S569;D10S607;D11S3313;D11S3319;D11S3328;D11S4088;D11S4726;D11S4744;G17603;KCNA8;KCNQ1_348;PMC19930P1;PMC21842P1;PMC21842P2;PMC22188P1;RH17571;RH18059;RH48362;RH94222;RH98704;SHGC-144501;SHGC-152334;SHGC-78732;SHGC-84145;WI-16373 ATFB1;ATFB3;FLJ26167;JLNS1;KCNA8;KCNA9;KVLQT1;Kv1.9;Kv7.1;LQT;LQT1;RWS;SQT2;WRS IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1;KQT-like 1;OTTHUMP00000011540;OTTHUMP00000011587;kidney and cardiac voltage dependend K+ channel;potassium voltage-gated channel subfamily KQT member 1;slow delayed rectifier channel subunit;voltage-gated potassium channel subunit Kv7.1 APPROVED protein-coding ENSG00000053918 HGNC:6294 06341 192500;220400;607542;607554;609621 REVIEWED 731286 KCNS3 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013] 2 2 2 p24 17940636 17994899 + 18059105 18114225 + 17877847 17932958 + 1580863;6480464;8554872 10484328;12477932;15489334;15714333;15827117;16344560;16382104;18029348;18676988;20876197;22422395;22939624;22943705;24170294;8125298;9362476;9704029 3790 C9J187;Q9BQ31 ABBA01018507;AC093731;AF043472;AK075088;AK225833;AK314451;AMYH02003343;AMYH02003344;BC004148;BC004987;BC015947;CH471053;DA921825;NG_012873;NM_001282428;NM_002252 AAC13164;AAH04148;AAH04987;AAH15947;AAX88969;ABM82038;ABM82041;ABM85218;BAG37059;EAX00861;EAX00862;NP_001269357;NP_002243;Q9BQ31 Hs.414489 1699670;1796222 KCNS3_457;RH103440 KV9.3;MGC9481 OTTHUMP00000149986;OTTHUMP00000200487;Shab-related delayed-rectifier K+ channel alpha subunit 3;delayed-rectifier K(+) channel alpha subunit 3;potassium voltage-gated channel delayed-rectifier protein S3;potassium voltage-gated channel subfamily S member 3;voltage-gated potassium channel protein Kv9.3;voltage-gated potassium channel subunit Kv9.3 APPROVED protein-coding ENSG00000170745 HGNC:6302 04865 603888 REVIEWED 1316250 KCNRG potassium channel regulator This gene encodes a protein which regulates the activity of voltage-gated potassium channels. This gene is on chromosome 13 and overlaps the gene for tripartite motif containing 13 on the same strand. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 13 13 13 q14.2 31644032 31649698 + 50589390 50595058 + 50015254 50020922 + 1580863;6480464 12477932;12650944;14702039;15188451;15489334;16189514;16499869;16819283;18029348;19251657;19447967;19968958;20237900 283518 Q8N5I3 ABBA01051034;AF086244;AK313401;AL137060;AMYH02028020;AY129653;AY129654;AY169387;AY169388;AY190921;AY190922;BC020887;BC032343;BX116021;CH471075;KF455768;NM_173605;NM_199464 AAH20887;AAH32343;AAN06090;AAN06091;AAO11777;AAO11778;AAO27464;AAO27465;ABM82527;ABM85722;EAX08849;EAX08850;NP_775876;NP_955751;Q8N5I3 Hs.660161 1654760;1671960;1740833;1851231;2107241 D13S1476;KCNRG__6503;RH44787;RH45034;SHGC-57506 DLTET OTTHUMP00000178640;OTTHUMP00000178641;potassium channel regulatory protein;putative potassium channel regulatory protein APPROVED protein-coding ENSG00000198553 HGNC:18893 06404 607947 VALIDATED 734382 KCNT1 potassium channel, subfamily T, member 1 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 9 9 9 q34.3 109111863 109202929 + 138594031 138684993 + 135702185 135793147 + 6480464;8699517;7240710;8554872 10718198;12477932;14702039;15164053;16344560;16382103;23086396;23086397;23147853;24029078;24279416;24591078 57582 C9J9Y7;C9JAX7;C9JBV2;C9JYL2;C9JZ51;F8WC49;Q5JUK3 AB037843;ABBA01030041;ABBA01030042;ABBA01030043;ABBA01030044;ABBA01030045;AK123276;AK124588;AK127272;AL158822;AMYH02021878;AMYH02021879;AMYH02021880;AMYH02021881;AMYH02021882;AMYH02021883;BC136618;BC144304;BC171770;BX110871;CH471090;DA095802;NG_033070;NM_001272003;NM_020822;XM_006717193;XM_006717194 AAI36619;AAI71770;BAA92660;BAG54469;EAW88177;EAW88178;EAW88179;EAW88180;EAW88181;EAW88182;NP_001258932;NP_065873;Q5JUK3;XP_006717256;XP_006717257 Hs.104950 1780152;2132934 SHGC-154477;STS-T51199 EIEE14;ENFL5;FLJ41282;KCa4.1;SLACK;bA100C15.2 OTTHUMP00000022558;OTTHUMP00000215618;OTTHUMP00000215619;OTTHUMP00000215620;OTTHUMP00000215622;OTTHUMP00000215624;potassium channel subfamily T member 1;potassium channel subunit (slack) protein-coding ENSG00000107147 HGNC:18865 608167;614959;615005 REVIEWED 1342899 KCNS2 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 INVOLVED IN potassium ion transmembrane transport (inferred); protein homooligomerization (inferred); regulation of ion transmembrane transport (inferred); FOUND IN plasma membrane (inferred); voltage-gated potassium channel complex (inferred); INTERACTS WITH disodium selenite; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 8 8 8 q22 95625108 95628883 + 99439250 99443025 + 98427022 98430797 + 737625;1580863;6480464 9305895 10574461;12477932;15489334;16382104;8640222 3788 Q9ULS6 AB032970;ABBA01037538;AK293096;AMYH02018484;AP003355;BC027932;BC034778;CH471060;NM_020697 AAH27932;AAH34778;ADZ15418;BAA86458;BAF85785;EAW91780;NP_065748;Q9ULS6 Hs.388045 1659416;1766597;1848930;1851885;2140876 A004D03;RH101843;SHGC-149903;STS-R44628;WI-21518 KV9.2 OTTHUMP00000041400;delayed-rectifier K(+) channel alpha subunit 2;potassium voltage-gated channel subfamily S member 2;voltage-gated potassium channel subunit Kv9.2 protein-coding HGNC:6301 04215 602906 PROVISIONAL 1351112 KCNT2 potassium channel, subfamily T, member 2 ENCODES a protein that exhibits ATP binding (inferred); calcium-activated potassium channel activity (inferred); INVOLVED IN potassium ion transmembrane transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane (inferred); INTERACTS WITH (+)-catechin; arsenite(3-); calcitriol 1 1 1 q31.3 169303964 169686483 - 196194913 196577690 - 196225779 196608560 - 6480464;8554872 12477932;14684870;16344560;16382103;16687497;21116278;23577725;24166878 343450 A9LNM6;Q3SY61;Q6UVM3;Q6ZS12;V9GZ63 ABBA01027602;ABBA01027603;ABBA01027604;ABBA01027605;AK127807;AK131498;AK309729;AL138931;AL139137;AL358853;AL591604;AMYH02002420;AMYH02002421;AMYH02002422;AMYH02002423;AMYH02002424;AMYH02002425;AMYH02002426;AY359444;BC103947;BC103948;BC103949;BC103950;BX647852;CH471067;DA799907;EU251076;JA176826;NM_001287819;NM_001287820;NM_198503;XM_006711294;XM_006711295;XM_006711296;XM_006711297 AAI03948;AAI03949;AAI03950;AAI03951;AAR06170;ABX11496;BAC87144;BAD18642;CAI46099;CCA64132;EAW91255;EAW91256;NP_001274748;NP_001274749;NP_940905;Q6UVM3;XP_006711357;XP_006711358;XP_006711359;XP_006711360 Hs.657046 1659177;1670187;1705440;1724623;1760215;1770340;1778651;1854867;2107623;2160990;2165774;2179312 AL009363;AL009418;AL009532;AL009592;AL009853;RH121310;RH69668;SHGC-132495;SHGC-33360;SHGC-76082;SHGC-83801;SLICK__6855 KCa4.2;MGC119610;MGC119611;MGC119612;MGC119613;RP11-58O13.1;SLICK;SLO2.1 OTTHUMP00000033601;OTTHUMP00000033602;potassium channel subfamily T member 2;sequence like an intermediate conductance potassium channel subunit;sodium activated potassium channel;sodium and chloride activated ATP sensitive potassium channel;sodium and chloride-activated ATP-sensitive potassium channel Slo2.1;sodium- and chloride-activated ATP-sensitive potassium channel;sodium-and chloride-activated ATP-sensitive potassium channel (SLICK) protein-coding ENSG00000162687 HGNC:18866 11584 610044 VALIDATED 1348220 KCNU1 potassium channel, subfamily U, member 1 ENCODES a protein that exhibits calcium-activated potassium channel activity (inferred); ion channel activity (inferred); potassium channel activity (inferred); INVOLVED IN ion transmembrane transport (inferred); multicellular organism reproduction (inferred); potassium ion transmembrane transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH N-acetyl-1,4-benzoquinone imine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 8 8 8 p11.23 35592114 35743914 + 36641842 36793643 + 36784324 36936125 + 6480464;8554872 12477932;16344560;16382103;16421571;20379614;21901158;22747683;23129643;9452476 157855 A8MYU2;E5RGP7;E5RHP1;E5RJA6;E5RK72 ABBA01023575;ABBA01023576;AC090453;AC124076;AC138136;AK302391;AMYH02017806;AMYH02017807;AMYH02017808;BC028701;DB089392;DC401954;NM_001031836;XM_005273424 A8MYU2;BAG63706;NP_001027006;XP_005273481 Hs.13861 1665287;1706346;1716827;1786522 RH121708;SHGC-106159;SHGC-80739;WI-11522 KCNMC1;KCa5;KCa5.1;Kcnma3;Slo3 Calcium-activated potassium channel subunit alpha-3;Calcium-activated potassium channel, subfamily M subunit alpha-3;OTTHUMP00000225498;OTTHUMP00000225499;Slowpoke homolog 3;potassium channel subfamily U member 1 protein-coding ENSG00000215262 HGNC:18867 615215 VALIDATED 736657 KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2 The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.3 58714783 58784129 - 62031561 62103993 - 63400208 63472640 - 1580863;6480464;7240710;8554872;8699517 10323247;10479678;10684873;10713399;10713961;10781098;10788442;10908292;10953053;11034315;11160379;11175290;11572947;11726784;11780052;12032157;12223552;12395102;12458027;12477932;12524525;12640002;12742592;12754513;12832524;12847176;12890507;12975309;14534157;14759258;14985406;15030501;15178210;15249611;15304482;15483133;15489334;15596769;16169070;16235065;16260777;16319223;16382104;16464983;16525039;16691402;16721610;16990515;17044971;17382933;17475800;17675531;17724161;17872363;17993630;18006581;18089837;18166285;18246739;18353052;18448631;18545987;18625963;19464834;19494108;19559753;19818940;20119593;20437616;21156207;21723881;21913284;21937445;21976501;21980481;22169383;22275249;22334706;22447848;22884718;23002961;23065794;23203804;23209695;23290024;23360469;23440208;23621294;23692823;24107868;24318194;24371303;24375629;24599470;24843134;9039501;9425895;9430594;9677360;9827540;9836639;9872318 3785 O43526;Q4VXP6;Q53Y30 ABBA01021395;ABBA01021396;AC210433;AF033348;AF074247;AF110020;AK293727;AL121827;AL121829;AL353658;AMYH02037457;AMYH02037458;AMYH02037459;AY358189;BC000699;BC020384;BC127262;BT007043;CH471077;D82346;KF456987;NG_009004;NM_004518;NM_172106;NM_172107;NM_172108;NM_172109;XM_006723787;XM_006723788;XM_006723789;XM_006723790;XM_006723791;XM_006723792;Y15065 AAB97315;AAC25921;AAD16988;AAH00699;AAI46295;AAP35692;AAQ88556;BAA11557;BAG57155;CAA75348;EAW75271;EAW75272;EAW75273;EAW75274;EAW75275;EAW75276;EAW75277;EAW75278;EAW75279;EAW75280;EAW75281;EAW75282;NP_004509;NP_742104;NP_742105;NP_742106;NP_742107;O43526;XP_006723850;XP_006723851;XP_006723852;XP_006723853;XP_006723854;XP_006723855 Hs.161851;Hs.652468 1677022;1680936;1687718;1729039;1784378;1797792;5022450;5022578 D10S275;D1S1423;KCNQ2_1774.3;RH12581;RH38946;RH98438;SHGC-149529;UniSTS:143684 BFNC;BFNS1;EBN;EBN1;EIEE7;ENB1;HNSPC;KCNA11;KV7.2;KVEBN1 KQT-like 2;OTTHUMP00000031681;OTTHUMP00000031682;OTTHUMP00000031683;OTTHUMP00000031684;OTTHUMP00000031685;OTTHUMP00000031686;OTTHUMP00000031687;OTTHUMP00000031689;OTTHUMP00000214671;neuroblastoma-specific potassium channel protein;neuroblastoma-specific potassium channel subunit alpha KvLQT2;potassium voltage-gated channel subfamily KQT member 2;voltage-gated potassium channel subunit Kv7.2 APPROVED protein-coding ENSG00000075043 HGNC:6296 03757 121200;602235;613720 REVIEWED 735720 KCNS1 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008] 20 20 20 q12 40429593 40438396 - 43720950 43729753 - 45092308 45101112 - 737625;1580863;6480464 9305895 10484328;11549316;11780052;12477932;15489334;16382104;20724292;22925353;23314412;24373571 3787 A2RUL8;Q96KK3 ABBA01052657;AF043473;AK289735;AMYH02037147;BC075033;BC075034;BC132957;BC132959;BC144234;CH471077;NM_002251;XM_005260409;Z93016 AAC13165;AAH75033;AAH75034;AAI32958;AAI32960;AAI44235;BAF82424;EAW75879;EAW75880;NP_002242;Q96KK3;XP_005260466 Hs.117780 1797794 KCNS1_1320 KV9.1 OTTHUMP00000031783;delayed-rectifier K(+) channel alpha subunit 1;delayed-rectifier K+ channel alpha subunit 1;potassium voltage-gated channel subfamily S member 1;voltage-gated potassium channel protein Kv9.1;voltage-gated potassium channel subunit Kv9.1 APPROVED protein-coding ENSG00000124134 HGNC:6300 04214 602905 REVIEWED 1344387 KCS Kenny-Caffey syndrome ASSOCIATED WITH Hypoparathyroidism-retardation-dysmorphism syndrome (inferred); Kenny-Caffey syndrome, Type 1 (inferred) 7240710 9806825 3771 HGNC:6303 241410;244460 731335 KCNV1 potassium channel, subfamily V, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008] 8 8 8 q23.2 107166854 107174580 - 110979233 110987963 - 109967004 109975734 - 1580863;6480464;8554872 12383276;12477932;14697513;16382104;8670833;9079713 27012 B4DMC1;Q6PIU1 AB032013;AB105051;ABBA01037718;ABBA01037719;AC027451;AF167082;AK297393;AK308123;AK313469;AMYH02018608;BC028739;CH471060;NM_014379;XM_005250866;XM_005250867 AAD48031;AAH28739;ABM83339;ABM86553;BAA92316;BAC85099;BAG36254;BAG59833;EAW91938;NP_055194;Q6PIU1;XP_005250923;XP_005250924 Hs.13285 2143596;2169307 RH36043;SHGC-16598 HNKA;KCNB3;KV2.3;KV8.1 OTTHUMP00000230578;neuronal potassium channel alpha subunit HNKA;potassium channel Kv8.1;potassium voltage-gated channel subfamily V member 1;voltage-gated potassium channel subunit Kv8.1 APPROVED protein-coding ENSG00000164794 HGNC:18861 16293 608164 REVIEWED 8548746 KCTD10P1 potassium channel tetramerization domain containing 10 pseudogene 1 9 9 9 28529191 28529807 - 28598662 28599278 - 28598664 28599280 - 100422230 ABBA01065122;AL445526;AMYH02019370;NG_023794 pseudo HGNC:49807 INFERRED 1601689 KCP kielin/chordin-like protein FOUND IN extracellular region (inferred); INTERACTS WITH arsenite(3-); benzo[a]pyrene; formaldehyde 7 7 7 q32.1 123313433 123347287 - 128516919 128550773 - 128876865 128910719 - 6480464 14702039;15793581 375616 Q6ZWJ8 ABBA01057649;ABBA01057650;ABBA01057651;ABBA01057652;AC025594;AK090684;AK090715;AK095464;AK122706;AMYH02016720;CH236950;CH471070;KF495713;KF510975;NM_001135914;NM_199349 BAC03505;BAC04553;BAC85504;EAW83694;NP_001129386;NP_955381;Q6ZWJ8 Hs.371746 1667669;5014063;5015619;5015861;5017227;7185938 D10S16;D11S3114;D15S1390;G38154;WI-14997 CRIM-2;CRIM2;KCP-1;KCP1;NET67 cysteine rich BMP regulator 2 (chordin-like);cysteine-rich BMP regulator 2;cysteine-rich motor neuron 2 protein;kielin;kielin-like;kielin/chordin-like protein 1 protein-coding ENSG00000135253 HGNC:17585 14196 609344 VALIDATED 1316133 KCTD11 potassium channel tetramerization domain containing 11 INVOLVED IN negative regulation of neuroblast proliferation (inferred); negative regulation of smoothened signaling pathway (inferred); positive regulation of neuron differentiation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; dioxygen 17 17 17 p13.1 7281147 7284208 + 7255208 7258263 + 7351889 7354944 + 6480464 12186855;12477932;14702039;15249678;15489334;20081843;20591193;21237243;21472142 147040 Q693B1 ABBA01054860;AC026954;AK056227;AMYH02032898;AY646650;BC019929;BC063604;BC103744;BC110598;CH471108;NM_001002914 AAH19929;AAI10599;AAT75307;BAG51652;EAW90208;NP_001002914;Q693B1 Hs.592112 1335571;5493547 D17S960;UniSTS:487199 C17orf36;KCASH1;MGC129844;REN;REN/KCTD11 BTB/POZ domain-containing protein KCTD11;OTTHUMP00000162941;potassium channel tetramerisation domain containing 11;retinoic acid, EGF, NGF induced gene protein;retinoic acid, EGF, NGF induced gene/potassium channel tetramerization domain containing 11 APPROVED protein-coding ENSG00000213859 HGNC:21302 13763 609848 VALIDATED 1352985 KCTD1 potassium channel tetramerization domain containing 1 ENCODES a protein that exhibits transcription corepressor activity; transcription factor binding; INVOLVED IN negative regulation of transcription, DNA-templated; ASSOCIATED WITH 2-3 toe syndactyly (inferred); 3-4 finger cutaneous syndactyly (inferred); Abnormality of the endocrine system (inferred); FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 18 18 18 q11.2 20845489 21030918 - 24034874 24237365 - 26454910 26657401 - 6480464;8699517;7240710;8554872 11181995;12477932;15146197;15489334;15561718;16344560;17207965;19115315;19471022;20379614;21658281;21693764;23541344;24736394;25027693 284252 J3KQT5;J3KSG1;J3QLL6;J3QRK1;Q719H9 ABBA01022569;ABBA01022570;ABBA01022571;ABBA01022572;ABBA01022573;AC007996;AC012588;AC090206;AF542549;AK289870;AL831954;AMYH02034455;AMYH02034456;AMYH02034457;AMYH02034458;AW575702;BC042371;BC063652;BI667790;BI915955;BQ129398;BU153387;BX366041;CH471088;CN290475;DB285442;DN994590;KF456360;NM_001136205;NM_001142730;NM_001258221;NM_001258222;NM_198991;XM_006722439 AAH63652;AAQ09532;ADQ31963;BAF82559;EAX01222;EAX01223;EAX01224;EAX01225;EAX01226;NP_001129677;NP_001136202;NP_001245150;NP_001245151;NP_945342;Q719H9;XP_006722502 Hs.526630 1336261;1342192;1649809;1655342;1673920;1694804;1709894;2118066;2128454;2145206;2191743 A007G23;D18S1038;D18S1235;D18S66;D18S819;G43629;IB525;MARC_6359-6360:997299586:3;RH18471;SHGC-84789;WI-22219 C18orf5;DKFZp451C132;SENS BTB/POZ domain-containing protein KCTD1;OTTHUMP00000162784;potassium channel tetramerisation domain containing 1;potassium channel tetramerization domain-containing protein 1 APPROVED protein-coding ENSG00000134504 HGNC:18249 11059 181270;613420 VALIDATED 1351630 KCNQ5 potassium voltage-gated channel, KQT-like subfamily, member 5 This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 6 6 6 q14 73724971 74301723 + 73331571 73908574 + 72621843 73198851 + 1580863;6480464;8554872 10787416;10816588;11159685;12032157;12477932;12506198;12890507;14574404;15304482;15489334;16344560;16382104;17237198;18457656;18786918;19910673;19913121;20379614;20628086;21730298;22190306;22347474;23396134;24297175;24855057 56479 A6PVT7;A6PVT8;F8WEA4;H0Y3Z0;Q9NR82 ABBA01040299;ABBA01040300;ABBA01040301;ABBA01040302;ABBA01040303;AF202977;AF249278;AF263835;AJ272506;AK299550;AK299741;AK316070;AL049845;AL360232;AL360236;AL365232;AL513522;AL671823;AMYH02013897;AMYH02013898;AMYH02013899;AMYH02013900;AMYH02013901;AMYH02013902;AMYH02013903;BC050689;BC117359;BC143554;BC143555;BF513800;CH471051;DA801374;FO393414;KF458205;KF510958;NM_001160130;NM_001160132;NM_001160133;NM_001160134;NM_019842 AAF69797;AAF73446;AAF91335;AAH50689;AAI17360;AAI43555;BAG61495;BAG61636;BAH14441;CAC88112;EAW48782;EAW48783;NP_001153602;NP_001153604;NP_001153605;NP_001153606;NP_062816;Q9NR82 Hs.445324 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Kv7.5 KQT-like 5;OTTHUMP00000016729;OTTHUMP00000043674;OTTHUMP00000196167;potassium channel protein;potassium channel subunit alpha KvLQT5;potassium voltage-gated channel subfamily KQT member 5;voltage-gated potassium channel subunit Kv7.5 APPROVED protein-coding ENSG00000185760 HGNC:6299 16241 607357 REVIEWED 1315042 KCTD14 potassium channel tetramerization domain containing 14 INVOLVED IN protein homooligomerization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH amiodarone; copper atom; copper(0) 11 11 11 q14.1 75035230 75042789 - 77726761 77757237 - 78015715 78046191 - 737633;1580863;6480464;8554872 12477932 15489334;21906983;21963094 65987 Q9BQ13 ABBA01017416;AK313892;AMYH02025145;AP003032;BC001062;BC001929;BU631809;CB993622;CH471076;NM_001282406;NM_023930 AAH01062;AAH01929;ABM83668;ABM86914;BAG36615;EAW75043;EAW75044;NP_001269335;NP_076419;Q9BQ13 Hs.709780 1678615;2147479 RH80555;WI-20939 MGC2376 BTB/POZ domain-containing protein KCTD14;OTTHUMP00000196643;potassium channel tetramerisation domain containing 14 APPROVED protein-coding ENSG00000151364 HGNC:23295 13764 VALIDATED 1347079 KCTD10 potassium channel tetramerization domain containing 10 ENCODES a protein that exhibits ubiquitin-protein transferase activity (ortholog); INVOLVED IN proteasome-mediated ubiquitin-dependent protein catabolic process (ortholog); protein ubiquitination (ortholog); FOUND IN cytoplasm; nucleus; Cul3-RING ubiquitin ligase complex (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; benzo[a]pyrene diol epoxide I 12 12 12 q24.11 109510834 109539530 - 109886460 109915165 - 109448655 109477360 - 737633;6480464 12477932 14702039;15489334;15982757;16196087;18029348;18193043;19060906;19125419;19154347;19295130;19531213;19605566;19615732;20360068;20379614;20570916;20864672;21139048;21145461;21890473;21906983;21963094;22118674;22505724;22558309;22810651;23000965;23182705;24457600;25015289;8125298 83892 B3KVY5;F5GWA4;F5GWK6;F5GY15;F5H268;F5H497;F5H6V0;F8W8I7;Q9H3F6;S4R3L9;S4R3Y7 AB209358;ABBA01005069;AC007570;AF113208;AK027543;AK056912;AK092170;AK123733;AK222548;AK309783;AMYH02027172;AY205299;AY597809;BC040062;CH471054;NM_031954;XM_005253945;XM_005253946 AAG39279;AAH40062;AAO47716;AAT09002;BAB55188;BAD92595;BAD96268;BAG52491;BAG53947;EAW97860;EAW97861;EAW97862;EAW97863;EAW97864;NP_114160;Q9H3F6;XP_005254002;XP_005254003 Hs.524731 1667460;2158628;2164122;2172417;2172419;5024761;5037552 1036;A004Z12;D12S177E;D8S2279;RH36905;WI-15687;WI-16017 BTBD28;FLJ41739;MSTP028;ULRO61;hBACURD3 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3;BTB/POZ domain-containing protein KCTD10;OTTHUMP00000240540;OTTHUMP00000240544;OTTHUMP00000240545;OTTHUMP00000240550;OTTHUMP00000240551;potassium channel tetramerisation domain containing 10;potassium channel tetramerization domain-containing protein 10 APPROVED protein-coding ENSG00000110906 HGNC:23236 13762 613421 PROVISIONAL 1319524 KCNV2 potassium channel, subfamily V, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008] 9 9 9 p24.2 2635779 2648010 + 2717526 2730037 + 2717526 2730037 + 1580863;6480464;7240710;8554872;8699517 12060745;12107411;12477932;15164053;15489334;16382104;16909397;17896311;18235024;18400204;18708743;19952985;21402906;21558291;21757650;21882291;21900228;21911584;22005931;23077521;23115240;23143909;23221069;23251661;23720494;23725738;23885164;24029832 169522 Q8TDN2 ABBA01065439;AF348983;AK302215;AL354723;AMYH02019051;BC101352;BC101353;BQ638061;CH471071;EL952823;NG_012181;NM_133497 AAI01353;AAI01354;AAL83910;BAG63572;EAW58803;NP_598004;Q8TDN2 Hs.622675;Hs.624689;Hs.740173 KV11.1;Kv8.2;MGC120515;RCD3B OTTHUMP00000020986;potassium voltage-gated channel subfamily V member 2;voltage-gated potassium channel Kv8.2;voltage-gated potassium channel subunit Kv8.2 APPROVED protein-coding ENSG00000168263 HGNC:19698 12126 607604;610356 REVIEWED 1345683 KCTD13 potassium channel tetramerization domain containing 13 ENCODES a protein that exhibits GTP-Rho binding; ubiquitin-protein transferase activity; INVOLVED IN cell migration; negative regulation of Rho protein signal transduction; proteasome-mediated ubiquitin-dependent protein catabolic process; FOUND IN Cul3-RING ubiquitin ligase complex; INTERACTS WITH atrazine; hydrogen peroxide; paracetamol 16 16 16 p11.2 72859623 72879543 + 29917657 29937545 - 29906336 29926224 - 1302826;737633;1580863;6480464 11593007;12477932 12136098;14702039;15489334;15498874;15726626;16189514;16239304;16751776;18029348;19615732;19782033;21139048;21145461;21890473;21906983;22596160;22902628;24250222;24561123 253980 H3BM90;I3L108;I3L1U2;I3L3K4;Q8WZ19 ABBA01013111;AC120114;AC244166;AF289573;AF401315;AJ328335;AK097407;AK289630;AY027918;BC036228;BI553707;CH471238;KF459558;NM_178863;NR_110933 AAH36228;AAK27301;AAL14962;AAL55757;ABM82481;ABM85668;BAF82319;EAW79969;EAW79970;NP_849194;Q8WZ19 Hs.534590 1676912;1678333;1681965;1697822;1730407;2187158;5019719;5093236;7186465 D16S2638;D16S425E;G32595;G32600;RH102436;RH67286;RH67291;RH78940 BACURD1;FKSG86;PDIP1;POLDIP1;hBACURD1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1;BTB/POZ domain-containing protein KCTD13;OTTHUMP00000163000;TNFAIP1-like protein;polymerase delta-interacting protein 1;potassium channel tetramerisation domain containing 13 APPROVED protein-coding ENSG00000174943 HGNC:22234 12339 608947 VALIDATED 1319755 KCTD12 potassium channel tetramerization domain containing 12 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN protein homooligomerization (inferred); regulation of G-protein coupled receptor protein signaling pathway (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2-methylcholine; 3-isobutyl-1-methyl-7H-xanthine 13 13 13 q22.3 58352296 58358541 - 77454304 77460540 - 76880169 76886405 - 737633;1580863;6480464 12477932 14702039;15345747;15357420;15489334;16344560;17353931;18210030;18347171;19336475;20386566;20562859;21139048;21145461;21275903;22053931;22863883;23290008;23973329;23996491;8619474;8889548;9110174 115207 Q96CX2 ABBA01021659;AC000403;AF052169;AF359381;AK057635;AK128363;AMYH02028310;BC013764;BU742274;CH471093;DB153209;NM_138444 AAH13764;AAQ15187;BAG54666;EAW80558;NP_612453;Q96CX2 Hs.644125 1738407;1739619;1847273;2115090;2117798;2121656;2127015;2138458;2153267;2163736;2171994 A002N08;D13S1209E;D13S1684;D13S668E;D13S831E;D13S844E;RH47229;RH78336;STS-D20072;STS-T94805;WI-17550 C13orf2;FLJ33073;KIAA1778;PFET1 BTB/POZ domain-containing protein KCTD12;OTTHUMP00000018517;PFETIN;potassium channel tetramerisation domain containing 12;predominantly fetal expressed T1 domain APPROVED protein-coding ENSG00000178695 HGNC:14678 11060 610521 VALIDATED 1313572 KCTD15 potassium channel tetramerization domain containing 15 INVOLVED IN multicellular organismal development (inferred); protein homooligomerization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-demecolcine; 1-nitropyrene; atrazine 19 19 19 q13.11 30981389 31000301 + 34287751 34306666 + 33796846 33815761 + 737633;1580863;6480464;8554872 12477932 14702039;15146197;15342556;15345747;15489334;16169070;17207965;19079260;19079261;19164386;19471022;19692490;19746409;19812171;19851340;19910641;19910938;20215397;20386550;20520848;20571754;20712903;20724581;20725061;20811636;20816152;20816195;20935630;21693764;23121087;23251661;23275563;23377640;23382213;24086424;24654937;8125298 79047 K7EIF1;K7EM48;K7EN63;K7EPF0;K7EQS3;Q96SI1;V9GYY8 ABBA01004317;AC005615;AC008556;AC253569;AI741557;AK025590;AK027901;AK096843;AK225793;AK291465;AK294543;AX883448;BC001185;BC009335;BP339379;CN301512;CX752088;NM_001129994;NM_001129995;NM_024076 AAH01185;AAH09335;ADQ32680;BAB55443;BAF84154;BAG53375;BAG57750;CAE91978;NP_001123466;NP_001123467;NP_076981;Q96SI1 Hs.221873;Hs.606506 1656346;1677370;1679109;1773713;2121057;2174456;2176186 RH35892;RH78686;RH93829;RH98215;SHGC-32254;STS-Z40869;WI-13386 MGC25497;MGC2628 BTB/POZ domain-containing protein KCTD15;potassium channel tetramerisation domain containing 15;potassium channel tetramerization domain-containing protein 15 APPROVED protein-coding ENSG00000153885 HGNC:23297 13765 615240 VALIDATED 1353287 KCTD17 potassium channel tetramerization domain containing 17 ENCODES a protein that exhibits identical protein binding; INVOLVED IN protein homooligomerization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH elemental selenium; hydroquinone O-beta-D-glucopyranoside; kojic acid 22 22 22 q12.3 21249109 21260760 + 37447779 37459430 + 37051736 37063390 + 737633;6480464;8554872 12477932 10591208;14702039;15342556;15489334;16189514;16344560;21044950;21145461;21903422;23222517;23402259;23455924 79734 B0QYB2;H0Y731;H7C323;Q8N5Z5 AA761637;ABBA01055459;AK022304;AK308720;AL022314;AMYH02038330;BC009961;BC025403;BC031038;BG832241;BP362002;BX463485;BX951630;CH471095;DA258908;HY029628;HY034580;KF457441;NM_001282684;NM_001282685;NM_001282686;NM_024681;XM_005261741;XM_005261742;XM_005261743;XM_005261744 AAH25403;AAH31038;BAB14007;EAW60136;EAW60137;EAW60138;EAW60139;EAW60140;NP_001269613;NP_001269614;NP_001269615;NP_078957;Q8N5Z5;XP_005261798;XP_005261799;XP_005261800;XP_005261801 Hs.517597 1847101 RH47858 FLJ12242;FLJ98761 BTB/POZ domain-containing protein KCTD17;OTTHUMP00000197756;OTTHUMP00000197757;OTTHUMP00000197758;potassium channel tetramerisation domain containing 17 APPROVED protein-coding ENSG00000100379 HGNC:25705 07764 VALIDATED 1349783 KCTD19 potassium channel tetramerization domain containing 19 INVOLVED IN protein homooligomerization (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid 16 16 16 q22.1 51831659 51868918 - 67323338 67360664 - 67289430 67326761 - 6480464;8554872 12477932;14702039 146212 H3BVC0;J3KRQ9;J3KSZ9;J3QKV2;Q17RG1 ABBA01025434;AC009061;AC040160;AK097481;AK302567;AK302748;AMYH02032230;BC070103;BC094790;BC117335;KC877606;NM_001100915;XM_005255808;XM_006721143 AAI17336;ADR83413;BAC05072;BAG63961;BAH13746;NP_001094385;Q17RG1;XP_005255865;XP_006721206 Hs.299127 1664481;1683094;1689684;5015961;5024039;5037552 D15S1477;D16S325;D8S2279;G09450;RH65202;RH92943 FLJ40162 BTB/POZ domain-containing protein KCTD19;potassium channel tetramerisation domain containing 19 APPROVED protein-coding ENSG00000168676 HGNC:24753 PROVISIONAL 1603870 KCTD21 potassium channel tetramerization domain containing 21 INVOLVED IN protein homooligomerization (inferred); INTERACTS WITH formaldehyde; hydrogen peroxide; menadione 11 11 11 q14.1 75190768 75208148 - 77882289 77900006 - 78171243 78188913 - 6480464 12477932;14702039;15489334;21145461;21472142 283219 E9PJJ5;E9PK99;E9PM10;E9PMS5;E9PRT1;Q4G0X4 ABBA01017408;ABBA01017409;AK095233;AK300320;AMYH02025146;AP002985;BC036058;CH471076;NM_001029859;XM_005273925;XM_005273926;XM_005273928;XM_005273929;XM_006718516;XM_006718517;XM_006718518 AAH36058;BAG62072;EAW75053;EAW75054;NP_001025030;Q4G0X4;XP_005273982;XP_005273983;XP_005273985;XP_005273986;XP_006718579;XP_006718580;XP_006718581 Hs.528439 2114886;2182306 RH17478;SGC33037 KCASH2 BTB/POZ domain-containing protein KCTD21;OTTHUMP00000233063;potassium channel tetramerisation domain containing 21 APPROVED protein-coding ENSG00000188997 HGNC:27452 18763 PROVISIONAL 1320472 KCTD20 potassium channel tetramerization domain containing 20 INVOLVED IN positive regulation of phosphorylation (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH benzo[a]pyrene diol epoxide I; bisphenol A; copper(2+) sulfate 6 6 6 p21.31 37965608 38013359 + 36410544 36458918 + 36442767 36491143 + 6480464 12477932;14574404;14676191;15489334;20379614;21139048;21145461;21890473;21906983;21963094;22053931;22321011;23000965;23080069;24156551;7829101 222658 B4DIP9;C9J5B3;C9J624;C9JY11;F8WF75;H7BXH0;Q7Z5Y7 ABBA01038257;ABBA01038258;ABBA01038259;ABBA01038260;AK295717;AK302861;AK304377;AK316456;AL049282;AL136135;AL832381;AMYH02013554;AMYH02013555;AMYH02013556;AY305862;BC023525;BC035879;BI493539;CH471081;CX872315;KF458142;NM_001286579;NM_001286580;NM_173562;NR_104480;NR_104481;XM_005248940;XM_006715023;XM_006715024;Z85986 AAH23525;AAP74385;BAG58561;BAG64045;BAG65215;BAH14827;CAH10583;EAX03892;EAX03893;NP_001273508;NP_001273509;NP_775833;Q7Z5Y7;XP_005248997;XP_006715086;XP_006715087 Hs.188757 1649009;1687255;1721465;2152165;5015619;5022578;5037552;5118444 D11S3114;D11S3316;D1S1423;D8S2279;G59586;RH93519;WI-20909;WIAF-2103 C6orf69;MGC14254;dJ108K11.3 BTB/POZ domain-containing protein KCTD20;OTTHUMP00000016292;chromosome 6 open reading frame 69;potassium channel tetramerisation domain containing 20 APPROVED protein-coding ENSG00000112078 HGNC:21052 12895 615932 VALIDATED 1320838 KCTD16 potassium channel tetramerization domain containing 16 INVOLVED IN protein homooligomerization (inferred); regulation of G-protein coupled receptor protein signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); postsynaptic membrane (inferred); presynaptic membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 3-methylcholanthrene; phenobarbital 5 5 5 q31.3 139631822 139938294 + 143550437 143858097 + 144170873 144478534 + 6480464;8554872 10718198;12477932;15489334;20379614;21890473;22053931;24529757 57528 A8K8W2;Q68DU8 AB037738;ABBA01026357;ABBA01026358;ABBA01026359;AC008383;AC008652;AC008716;AC010584;AC109441;AK292477;AMYH02012388;AMYH02012389;AMYH02012390;AMYH02012391;AMYH02012392;AX405760;BC111962;BC113435;CR749266;KF458027;KF510892;NM_020768;XM_005268492;XM_005268493;XM_006714789 AAI11963;AAI13436;ADR82992;BAA92555;BAF85166;CAD34867;CAH18122;NP_065819;Q68DU8;XP_005268549;XP_005268550;XP_006714852 Hs.661870 1650748;1717179;1748643;1749567;1785582;2219848;7183772 D7S1511;KCTD16__6505;L28353;RH121512;SHGC-110302;SHGC-111264;SHGC-155132 DKFZp781A1155;KIAA1317;MGC138167 BTB/POZ domain-containing protein KCTD16;OTTHUMP00000223246;OTTHUMP00000223247;potassium channel tetramerisation domain containing 16;potassium channel tetramerization domain-containing protein 16 APPROVED protein-coding HGNC:29244 17175 613423 VALIDATED 1353413 KCTD4 potassium channel tetramerization domain containing 4 INVOLVED IN protein homooligomerization (inferred); INTERACTS WITH silicon dioxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 13 13 13 q14.12 26823093 26831280 - 45766988 45775175 - 45192853 45201040 - 1580863;6480464 12477932;15489334;16189514;16344560 386618 Q8WVF5 ABBA01021218;AK290675;AL138693;AL138963;AMYH02027966;BC018063;BQ575935;CH471075;DA683655;DB557284;NM_198404 AAH18063;ABM86213;ABW03658;BAF83364;EAX08730;NP_940686;Q8WVF5 Hs.23406;Hs.693242 1849039;2111598;2111618;2175922 A004S30;D13S1542;D13S1557;WI-13796 bA321C24.3 BTB/POZ domain-containing protein KCTD4;OTTHUMP00000018343;potassium channel tetramerisation domain containing 4 APPROVED protein-coding HGNC:23227 13767 VALIDATED 1346294 KCTD18 potassium channel tetramerization domain containing 18 INVOLVED IN protein homooligomerization (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; copper(2+) sulfate 2 2 2 q33.1 195108519 195129627 - 201353677 201374817 - 200488954 200510094 - 6480464 12477932;14702039;15489334;15815621;21145461;21832049;21890473;23054586 130535 Q6PI47 ABBA01062515;AC012459;AK055884;AK095137;AK290867;AMYH02005538;BC045189;BC059366;BC067755;BU181789;CB960352;CH471063;NM_152387;XM_005246301 AAH45189;AAH67755;AAY24308;AAY24309;BAB71035;BAF83556;EAW70203;EAW70204;EAW70205;EAW70206;NP_689600;Q6PI47;XP_005246358 Hs.605775 1666001;1727139;5015404;5015861;5016478;5022322;5022578;5024413;7185938 D10S16;D11S2560;D1S1423;G62823;GDB:434012;L17705;L17877;RH69301 6530404F10Rik;FLJ31322;FLJ37818 BTB/POZ domain-containing protein KCTD18;OTTHUMP00000163669;OTTHUMP00000205959;potassium channel tetramerisation domain containing 18 APPROVED protein-coding ENSG00000155729 HGNC:26446 08098 VALIDATED 1321690 KCTD3 potassium channel tetramerization domain containing 3 INVOLVED IN protein homooligomerization (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3-methylcholanthrene; 4-hydroxyphenyl retinamide; aflatoxin B1 1 1 1 q41 188964556 189018971 + 215740528 215795149 + 215567185 215621807 + 6480464;8554872 10508479;12477932;14702039;15231747;15489334;16051665;16710414;17620599;19531213;19615732;21139048;21145461;21890473;21906983;21963094;22678362;22939629;23000965;23382386 51133 H0Y566;H0Y5P8;Q9Y597 ABBA01048130;ABBA01048131;AC092799;AK024547;AK055925;AK296275;AK316272;AL365315;AL833887;AL834389;AMYH02002677;AMYH02002678;BC013868;BC037896;BC094879;BC117188;BC126173;BC143963;CH471100;KF510721;NM_016121;XM_005273156;XM_005273157;XM_005273158 AAH13868;AAH37896;AAH94879;AAI17189;AAI26174;ADR83251;BAG51592;BAG58984;BAH14643;CAD38743;CAD39051;EAW93344;EAW93345;NP_057205;Q9Y597;XP_005273213;XP_005273214;XP_005273215 Hs.335139 1652343;1671257;1736314;1740161;1767343;2147680 AL009561;D1S2043E;D1S2352;D1S2530;SHGC-76347;WI-16536 MGC43935;NY-REN-45 BTB/POZ domain-containing protein KCTD3;NY-REN-45 antigen;OTTHUMP00000035070;potassium channel tetramerisation domain containing 3;renal carcinoma antigen NY-REN-45 APPROVED protein-coding ENSG00000136636 HGNC:21305 13766 613272 VALIDATED 7252619 KCTD21-AS1 KCTD21 antisense RNA 1 11 11 11 q14.1 75186684 75195052 + 77850769 77885023 + 78139793 78173977 + 12477932;14702039;16344560;20379614 100289388 ABBA01017409;AK124949;AMYH02025146;AP002520;AP002985;BC062331;DA156609;DA737651;DA814941;DB082989;HG504028;HG504029;NR_102280;NR_102281 AAH62331 Hs.628183;Hs.719003 1337267;2114886;2182306;5016700;7186147 D11S937;RH17478;RH79802;SGC33037 RP11-705O3.1 ncrna ENSG00000246174 HGNC:48674 VALIDATED 1314738 KCTD7 potassium channel tetramerization domain containing 7 This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] 7 7 7 q11.21 66008064 66022242 - 66093868 66113964 + 66628881 66643229 + 737633;1580863;6480464;7240710;8554872;8699517 12477932 12690205;14702039;15146197;15489334;16344560;16368877;17455289;20301334;20301601;21139048;21145461;21223598;22693283;22748208;22944692;24250222;8889548 154881 C9JTB6;E7ERJ8;E9PHB8;Q96MP8 ABBA01048978;ABBA01048979;AC006001;AK055201;AK056631;AMYH02015912;BC042482;BU682845;BY795857;CH236961;CH471140;CN371295;DA493191;DB095774;NG_028110;NM_001167961;NM_153033 AAH42482;BAB71236;EAL23735;EAX07918;EAX07919;EAX07920;NP_001161433;NP_694578;Q96MP8 Hs.546627 1656162;1852069;2125590;2163088;2171158 GDB:1318635;GDB:4585276;GDB:4585394;RH78008;SHGC-8688 CLN14;EPM3;FLJ32069;FLJ45891 BTB/POZ domain-containing protein KCTD7;OTTHUMP00000159940;OTTHUMP00000210530;OTTHUMP00000210531;potassium channel tetramerisation domain containing 7 APPROVED protein-coding ENSG00000243335 HGNC:21957 13770 611725;611726 REVIEWED 5488959 KCTD9P1 potassium channel tetramerization domain containing 9 pseudogene 1 17 17 17 p11.2 17429044 17430207 + 20015137 20016300 + 20111824 20112987 + 100422273 ABBA01054588;AC007963;AMYH02033180;NG_026227;NG_029768 HsT38306 APPROVED pseudo HGNC:21428 INFERRED 1625839 KCTD9P2 potassium channel tetramerization domain containing 9 pseudogene 2 X X X q22.3 105124763 105128131 + 104650184 104653553 + 105405513 105408882 + 15772651;20029029 643535 ABBA01018934;AL121876;AMYH02040189;NG_011074 1658153;1676346 DXS7627;RH66133 KCTD9L APPROVED pseudo HGNC:29274 INFERRED 8694985 KCTD9P3 potassium channel tetramerization domain containing 9 pseudogene 3 9 9 9 p13.2 37410380 37411545 + 37477146 37478311 + 37477149 37478314 + 21145461 647013 ABBA01050394;AL158156;AMYH02019496;NG_021645 pseudo HGNC:49912 INFERRED 1312748 KCTD5 potassium channel tetramerization domain containing 5 ENCODES a protein that exhibits protein complex binding; INVOLVED IN protein homooligomerization (inferred); viral process (inferred); FOUND IN cytosol; INTERACTS WITH (+)-catechin; 2-methylcholine; benzo[a]pyrene diol epoxide I 16 16 16 p13.3 2932069 2958601 + 2732495 2759031 + 2682494 2709030 + 737633;1580863;6480464 12477932 14702039;15489334;16344560;16501559;17239418;17353931;18573101;19361449;20360068;21139048;21145461;21890473;21906983;21988832;22505724;22952844;23184937;23398456;23402259;23667531;24747150;24816145 54442 H3BSS5;Q9NXV2 ABBA01026711;AC092117;AK000047;AMYH02031271;BC007314;CH471112;DA134449;NM_018992 AAH07314;BAA90906;EAW85488;EAW85489;EAW85490;EAW85491;NP_061865;Q9NXV2 Hs.61960 1768947;2110477;2112892;2125079 D16S3365;KCTD5_9784;RH66453;SHGC-64062 FLJ20040 BTB/POZ domain-containing protein KCTD5;OTTHUMP00000159182;potassium channel tetramerisation domain containing 5 APPROVED protein-coding ENSG00000167977 HGNC:21423 13768 611285 VALIDATED 9586260 KCTD9P4 potassium channel tetramerization domain containing 9 pseudogene 4 11 11 11 109204731 109205880 + 112051496 112052645 + 112180773 112181922 + 100422242 ABBA01039802;AMYH02025586;AP002884;NG_024561 pseudo HGNC:49913 INFERRED 1348745 KCTD2 potassium channel tetramerization domain containing 2 ENCODES a protein that exhibits protein complex binding; INVOLVED IN protein homooligomerization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2-methylcholine; genistein; MeIQx 17 17 17 q25.1 69636216 69648576 + 73043279 73061981 + 75047184 75065886 + 1580863;6480464;8554872 12477932;12620391;20360068;21130836;21145461;21906983;23402259;24778252;8619474;8724849;9110174 23510 H0Y3B9;J3QSC8;Q14681;Q8IYY2 ABBA01028818;ABBA01028819;AC087651;AC111186;AF055014;AI871166;AK307083;AK310690;AK311278;AMYH02033982;BC009633;BC033329;BC047910;BC072404;BC080561;BM906741;CD742648;CH471099;D79998;DA408645;DB460074;NM_015353;NR_110834;NR_110835;XR_243758;XR_248405;XR_253732 AAH33329;AAI60142;BAA11493;EAW89230;NP_056168;Q14681 Hs.514468;Hs.733235 1658301;1665620;1846939;2109447 A002O02;KCTD2_9357;RH78471;SHGC-31760 KIAA0176 BTB/POZ domain-containing protein KCTD2;potassium channel tetramerisation domain containing 2;potassium channel tetramerization domain-containing protein 2 APPROVED protein-coding ENSG00000180901 HGNC:21294 17176 613422 VALIDATED 9586342 KCTD9P5 potassium channel tetramerization domain containing 9 pseudogene 5 5 5 5 37392296 37393463 - 37505793 37506960 - 37505691 37506858 - 100422179 ABBA01024187;AC117532;AMYH02011182;NG_024585 pseudo HGNC:49914 INFERRED 8656127 KCTD9P6 potassium channel tetramerization domain containing 9 pseudogene 6 8 8 8 p12 30036204 30037183 - 31077531 31078486 - 31220015 31220970 - 23251661 642513 ABBA01023642;AC009563;AMYH02017730;NG_030274 pseudo HGNC:49915 INFERRED 1323768 KCTD9 potassium channel tetramerization domain containing 9 INVOLVED IN protein homooligomerization (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid; benzo[a]pyrene diol epoxide I 8 8 8 p21.1 24246240 24277531 - 25285363 25315984 - 25427847 25458468 - 737633;6480464 12477932 11483580;14702039;15489334;16344560;17207965;19032868;19322201;21139048;21145461;21890473;21906983;21963094;23376586;24250222;24722188 54793 B4DPW0;K7ENB5;K7EQN1;Q7L273 ABBA01005564;AC103779;AF075015;AK000045;AK025995;AK298518;AL117436;AMYH02017646;AX223865;BC021216;BC068518;BG249272;BQ022851;BU149129;CH471080;DA115324;NM_017634;XM_005273541;XM_005273542;XM_005273543;XM_005273544;XM_005273545 AAH21216;AAH68518;ADQ32270;BAA90904;BAG60722;CAC69381;EAW63587;EAW63588;EAW63589;EAW63590;NP_060104;Q7L273;XP_005273598;XP_005273599;XP_005273600;XP_005273601;XP_005273602 Hs.188763;Hs.72071 5037552 D8S2279 BTBD27;FLJ20038 BTB/POZ domain-containing protein KCTD9;OTTHUMP00000125275;potassium channel tetramerisation domain containing 9 APPROVED protein-coding ENSG00000104756 HGNC:22401 13772 VALIDATED 1347684 KDELC2 KDEL (Lys-Asp-Glu-Leu) containing 2 FOUND IN endoplasmic reticulum (inferred); INTERACTS WITH cobalt dichloride; copper atom; copper(0) 11 11 11 q22.3 105497757 105524083 - 108342832 108369169 - 108472106 108498432 - 737633;6480464 12477932 12975309;14702039;15489334;21906983;22268729 143888 H0YEM3;Q7Z4H8 ABBA01039865;AF533708;AI628702;AK098206;AK123743;AK125519;AK313534;AMYH02025552;AP005718;AY358616;BC036526;BX648867;CH471065;DN999478;NM_153705 AAH36526;AAQ09021;AAQ88979;BAC05260;BAC86191;BAG36311;EAW67119;EAW67120;NP_714916;Q7Z4H8 Hs.83286 1643826;1689791;1847288;1847290;2121117;2154996;5015619;5022578;5024039;5037552 A006G13;D11S2231E;D11S2251E;D11S3114;D16S325;D1S1423;D8S2279;G20783;RH27238;RH36602 MGC33424 KDEL motif-containing protein 2;OTTHUMP00000233300;OTTHUMP00000233301 protein-coding ENSG00000178202 HGNC:28496 13773 VALIDATED 1323784 KCTD8 potassium channel tetramerization domain containing 8 INVOLVED IN protein homooligomerization (inferred); regulation of G-protein coupled receptor protein signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); postsynaptic membrane (inferred); receptor complex (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; diazinon 4 4 4 p13 44623428 44899318 - 44175920 44450824 - 44173903 44448807 - 6480464;8554872 12477932;14702039;22156575;22216198;22930747;22939624;22952603 386617 H0Y9S2;Q6ZWB6 ABBA01014304;ABBA01014305;ABBA01014306;ABBA01014307;ABBA01014308;ABBA01014309;AC093861;AC131951;AK123347;AK298831;AMYH02009127;AMYH02009128;AMYH02009129;AMYH02009130;AMYH02009131;BC132743;BC136793;DB561746;NM_198353 AAI32744;AAI36794;ADR83369;BAC85588;BAG60961;NP_938167;Q6ZWB6 Hs.479644 1336202;1337121;1340217;1715395;1731920;1750111;1750625;1751359;1772780;1784972;2118544;2125094;2141387;2179302;2186623;2191433;7186889 D4S1547;D4S1627;D4S1639;D4S2295;D7S2647;MARC_21837-21838:1025100922:1;RH120530;SHGC-105209;SHGC-111916;SHGC-111979;SHGC-112243;SHGC-18275;SHGC-50887;SHGC-59732;SHGC-9448;WI-21522 BTB/POZ domain-containing protein KCTD8;OTTHUMP00000125257;potassium channel tetramerisation domain containing 8 APPROVED protein-coding ENSG00000183783 HGNC:22394 13771 VALIDATED 4889171 KDELC1P1 KDEL (Lys-Asp-Glu-Leu) containing 1 pseudogene 1 5 5 5 q23.3 123576907 123578900 + 127444897 127446890 + 128109205 128111198 + 100144494 ABBA01068871;AC011332;AMYH02012166;NG_007523 pseudo HGNC:39193 INFERRED 1317853 KCTD6 potassium channel tetramerization domain containing 6 ENCODES a protein that exhibits ankyrin binding; INVOLVED IN protein homooligomerization (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; arsenous acid; copper(2+) sulfate 3 3 3 p14.3 58497720 58501753 + 58477823 58488087 + 58492096 58502360 + 737633;6480464;8554872 12477932 14702039;15489334;16303743;16344560;17207965;19615732;21139048;21145461;21472142;22573887;24163370;24307990 200845 F5H7I0;Q8NC69 AA721100;ABBA01024381;ABBA01024382;AC116036;AK027572;AK074934;AK075297;AMYH02006890;AX882389;BC022893;CH471055;CQ783437;CQ783758;DA359951;NM_001128214;NM_153331;XM_005264937;XM_006713014 AAH22893;ADQ32205;BAC11301;BAC11531;BAG51347;CAE91561;CAF86641;CAF86847;EAW65374;NP_001121686;NP_699162;Q8NC69;XP_005264994;XP_006713077 Hs.13982 1674559;2219850;5015881;5017227;5109281 D1S1425;G38154;GDB:335751;KCTD6__6506;STS-W80381 KCASH3;MGC27385 BTB/POZ domain-containing protein KCTD6;OTTHUMP00000214221;OTTHUMP00000214222;OTTHUMP00000214223;OTTHUMP00000214224;OTTHUMP00000238332;potassium channel tetramerisation domain containing 6 APPROVED protein-coding ENSG00000168301 HGNC:22235 13769 VALIDATED 1602654 KDF1 keratinocyte differentiation factor 1 INVOLVED IN developmental growth (ortholog); establishment of skin barrier (ortholog); limb epidermis development (ortholog); FOUND IN cell junction (ortholog); cytoplasm (ortholog); INTERACTS WITH copper(2+) sulfate; benzo[a]pyrene (ortholog) 1 1 1 p36.11 25673140 25683994 - 27276047 27286901 - 26949556 26960410 - 6480464 12477932;14702039;16344560;24075906 126695 Q68D65;Q8NAX2 ABBA01034938;ABBA01034939;ABBA01034940;AI216202;AK091952;AL356390;AMYH02000583;BC033143;CH471059;CR749558;DA041083;NM_152365;XM_005245735 AAH33143;BAC03775;CAH18355;EAX07779;NP_689578;Q8NAX2;XP_005245792 Hs.188881 1732920 D1S1326 C1orf172;FLJ34633;RP11-344H11.3 OTTHUMP00000004472;hypothetical protein LOC126695;uncharacterized protein C1orf172 APPROVED protein-coding ENSG00000175707 HGNC:26624 08754 VALIDATED 1315569 KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 45751071 45760059 - 48885827 48894810 - 48382570 48391553 - 1580863;6480464;6484113;6907045 10708517;11703931;12477932;12761501;12821650;12975382;1310258;15308636;15489334;17353931;21139048;21684323;2172835;21890473;22363504;22580821;22990118;8392934;9118249;9405360;9472029 10945 M0R1Y2;P24390 AB097047;ABBA01032998;AC011514;AK075185;AK312647;AMYH02036296;BC008958;BC018778;CH471177;NM_006801;X55885 AAH08958;AAH18778;ABM82918;ABM86108;BAC11457;BAC77400;BAG35531;CAA39371;EAW52340;EAW52341;EAW52342;EAW52343;EAW52344;EAW52345;NP_006792;P24390 Hs.515515 1649833;1769578 WI-19271;WI-9028 ERD2;ERD2.1;HDEL;PM23 ER lumen protein retaining receptor 1;ER lumen protein-retaining receptor 1;KDEL endoplasmic reticulum protein retention receptor 1;KDEL receptor 1;putative MAPK-activating protein PM23 APPROVED protein-coding ENSG00000105438 HGNC:6304 00569 131235 REVIEWED 1321760 KDM1B lysine (K)-specific demethylase 1B Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009] 6 6 6 p22.3 19393595 19462052 + 18155619 18224085 + 18155388 18223854 + 6480464;7242632;8554872 23200123 12477932;14574404;14702039;15489334;16344560;19407342;19615732;19727073;19815555;20670891;20805357;21139048;21890473;21906983;23266887;24250222;7566098 221656 H0Y6H0;Q08EI0;Q8NB78 AA332652;ABBA01022233;ABBA01022234;AJ420481;AK091217;AK125318;AL031774;AL589723;AMYH02013218;AMYH02013219;BC113093;CH471087;CR627410;DA099422;NM_153042;XM_005248925;XM_005248926;XM_005248927;XM_005248928;XM_005248929;XM_006715019;XM_006715020 AAI13094;BAC03612;BAC86124;CAH10499;EAW55400;EAW55401;NP_694587;Q8NB78;XP_005248982;XP_005248983;XP_005248984;XP_005248985;XP_005248986;XP_006715082;XP_006715083 Hs.709336 1699132;2114892;2125785;2170074;5093186;5109281 A009J06;D1S1425;G31479;G32571;RH103142;SHGC-36399 AOF1;C6orf193;DKFZp686I0412;FLJ33898;FLJ34109;FLJ43328;LSD2;bA204B7.3;dJ298J15.2 OTTHUMP00000179124;OTTHUMP00000179125;amine oxidase (flavin containing) domain 1;amine oxidase, flavin containing 1;flavin-containing amine oxidase domain-containing protein 1;lysine-specific histone demethylase 1B;lysine-specific histone demethylase 2 APPROVED protein-coding ENSG00000165097 HGNC:21577 18524 613081 VALIDATED 1323044 KDELR3 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 22 q13.1 22669670 22685024 + 38864067 38879452 + 38468062 38483447 + 1580863;6480464;6907045 10591208;11827452;12477932;12529303;15461802;15489334;21139048;8125298;9118249 11015 O43731 ABBA01055520;AI753246;AK129888;AK222930;AK223238;AK292102;AL035081;AL035082;AMYH02038356;AMYH02038357;BC001277;BC096722;BC098131;BC098156;BC098336;BU621350;CH471095;CR456509;CS300667;NM_006855;NM_016657;Z97056 AAH01277;AAH96722;AAH98131;AAH98156;AAH98336;ABM82666;ABM85843;BAD96650;BAD96958;BAF84791;CAA22673;CAA22674;CAG30395;CAK32331;CAK54539;CAK54838;EAW60237;EAW60238;EAW60239;EAW60240;NP_006846;NP_057839;O43731 Hs.745072 1648103;1684321;2120896;2128524;2148806;2158389;2170828 1574;D22S1199;D22S1255;D22S314E;D22S996E;RH28487;STS-W80852 ERD2L3 ER lumen protein retaining receptor 3;ER lumen protein-retaining receptor 3;KDEL endoplasmic reticulum protein retention receptor 3;KDEL receptor 3;OTTHUMP00000204024;OTTHUMP00000204025 APPROVED protein-coding ENSG00000100196 HGNC:6306 17177 REVIEWED 1312273 KDELC1 KDEL (Lys-Asp-Glu-Leu) containing 1 This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q33 84281120 84295885 - 103436631 103451404 - 102784281 102799054 - 6480464 11167020;12477932;12975309;15057823;15489334;15635705;16344560;21145461;22505724;8125298 79070 Q6UW63 ABBA01027070;AK074974;AK222567;AK225103;AK309238;AL157769;AMYH02028627;AY358959;BC001297;BC051860;CH471085;DA885954;DB204842;NM_024089;XM_005254074;XM_005254075;XM_005254076 AAH01297;AAQ89318;ABM82133;ABM85316;BAD96287;EAX09067;EAX09068;EAX09069;NP_076994;Q6UW63;XP_005254131;XP_005254132;XP_005254133 Hs.408629 1737481 D13S1028 EP58;ERp58;KDEL1;MGC5302 ER protein 58;KDEL motif-containing 1;KDEL motif-containing protein 1;OTTHUMP00000018674;endoplasmic reticulum resident protein 58 APPROVED protein-coding ENSG00000134901 HGNC:19350 11061 611613 REVIEWED 1346048 KDM3A lysine (K)-specific demethylase 3A This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 2 2 2 p11.2 86496309 86547889 + 86668271 86719839 + 86441148 86492716 + 1580863;6480464;7242632;9586363;8554872;9586733 18538129;22120715;23200123 12477932;14702039;15302935;15489334;15815621;16344560;16603237;16619273;17991879;18713068;18984585;19471969;19615732;19858293;19946888;20042601;20127736;20378615;20823141;21139048;21275466;21282530;21541331;21607773;21890473;21906983;22020899;22318714;22645302;23455924;23546878;23576503;23583388;23593242;23891737;24214985;24250222;9872452 55818 C9J7Q7;C9JC73;F5H070;F8WE62;Q9Y4C1 AB018285;ABBA01075782;ABBA01075783;AC068288;AI911797;AK074314;AK125045;AK304276;AL832150;AMYH02004194;AMYH02004195;BC038297;BG723267;BX537674;BX640698;BX647271;BX647752;BX648841;BX649109;CH471053;CR749581;DB087171;DB453517;NM_001146688;NM_018433;XM_006712051 AAI56519;AAI72547;AAY24210;BAA34462;BAG65137;CAE45820;CAH18373;CAH18459;EAW99453;EAW99454;EAW99455;EAW99456;NP_001140160;NP_060903;Q9Y4C1;XP_006712114 Hs.557425 1650411;1688090;1856993 RH69600;RH77990;RH92486 DKFZp686A24246;DKFZp686P07111;JHDM2A;JHMD2A;JMJD1;JMJD1A;KIAA0742;TSGA OTTHUMP00000160707;OTTHUMP00000203309;jmjC domain-containing histone demethylation protein 2A;jumonji C domain-containing histone demethylase 2A;jumonji domain containing 1;jumonji domain containing 1A;jumonji domain-containing protein 1A;lysine-specific demethylase 3A;testis-specific protein A APPROVED protein-coding ENSG00000115548 HGNC:20815 11054 611512 REVIEWED 6766693 KDM4A-AS1 KDM4A antisense RNA 1 1 1 1 p34.1 42447224 42454841 - 44165395 44173032 - 43699724 43707341 - 12477932 100132774 ABBA01050946;AL451062;AMYH02000907;BC073819;BC094867;HG491962;HG491963;HG491964;HG491966;NR_033827 Hs.655569 1338740;1689482;1848081;2164980;5022200;5022639;5108775;5118444 D11S2808;D11S3316;D11S4192;D3S1674;L18426;RH35886;RH79804;SGC34395 RP11-184I16.2 APPROVED ncrna HGNC:40528 VALIDATED 1312161 KDELR2 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 6211338 6234431 + 6500712 6523849 - 6461081 6484218 - 1580863;6480464;6907045 11752456;12071860;12477932;12690205;12853948;1316805;1325562;14702039;15489334;16344560;17353931;19322201;21139048;21890473;24250222;9118249 11014 H7BYF7;P33947 ABBA01056488;ABBA01056489;ABBA01056490;ABBA01056491;ABBA01056492;AC072052;AK093917;AK124072;AK315702;AL547016;AMYH02015175;AMYH02015176;AMYH02015177;AV660600;BC008081;BC012994;BC071982;CH236963;CH878731;DA713413;M88458;NM_001100603;NM_006854;X63745 AAH08081;AAH12994;AAH71982;AAS02002;ABM83805;ABM87127;BAG38064;CAA45277;EAL23722;EAW55029;EAW55030;EAW55031;NP_001094073;NP_006845;P33947 Hs.654552 1647178;1647399;1651784;1675626;1735682;1849023;2120499;2141265;2175019;2176762;2181676 A002F46;A002G37;D7S2139E;D7S2246;D7S2768;D7S2873;RH48479;RH91356;SHGC-53741;SHGC-55953;STS-T98803 ELP-1;ERD2.2;FLJ45532 (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2;ER lumen protein retaining receptor 2;ER lumen protein-retaining receptor 2;ERD-2-like protein;ERD2-like protein 1;KDEL endoplasmic reticulum protein retention receptor 2;KDEL receptor 2;OTTHUMP00000024721;OTTHUMP00000214029 APPROVED protein-coding ENSG00000136240 HGNC:6305 06598 609024 REVIEWED 1314960 KDM4A lysine (K)-specific demethylase 4A This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009] 1 1 1 p34.1 42397631 42453018 + 44115797 44171189 + 43650126 43705518 + 1580863;6480464;9587437;7242632;9587434;9586031;9587460;9587435;9587422;9479148;9479074;8661237;8554872;9586733;8661242 21555854;21936853;22120715;22199269;23168260;23200123;23603248;23642229;24002223;24035451;24326623;24802408 12477932;14527417;15138608;15146197;15342556;15489334;15927959;16024779;16094384;16415788;16601153;16603238;16677698;16710414;16732292;17190600;17207460;17555712;17567753;17589501;17589523;17611647;18029348;18084306;19144645;19615732;20574068;21148561;21228229;21400613;21757720;21768309;21890473;21931800;21962223;21963094;22134899;22322875;22373579;22505724;22948256;22959728;23678541;23692052;23871696;24250222;8889548;9734811 9682 B4DT38;O75164 AB014577;ABBA01050946;ABBA01050947;AC092815;AK294596;AK300039;AK310295;AL451062;AMYH02000906;AMYH02000907;BC002558;BP198064;CA944984;CH471059;CN361683;NM_014663;XM_005271354;XM_005271355;XM_005271356;Z70219 AAH02558;BAA31652;BAG57784;BAG61850;EAX07085;NP_055478;O75164;XP_005271411;XP_005271412;XP_005271413 Hs.155983 1689482;1719927;1848081;2164980;2219838 JMJD2A__6488;RH123656;RH35886;RH79804;SGC34395 JHDM3A;JMJD2;JMJD2A;KIAA0677;TDRD14A OTTHUMP00000008810;jmjC domain-containing histone demethylation protein 3A;jumonji C domain-containing histone demethylase 3A;jumonji domain containing 2;jumonji domain containing 2A;jumonji domain-containing protein 2A;lysine-specific demethylase 4A;tudor domain containing 14A APPROVED protein-coding ENSG00000066135 HGNC:22978 17168 609764 REVIEWED 1319753 KDM2A lysine (K)-specific demethylase 2A This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least six highly degenerated leucine-rich repeats. This family member plays a role in epigenetic silencing. It nucleates at CpG islands and specifically demethylates both mono- and di-methylated lysine-36 of histone H3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 11 11 11 q13.2 64216493 64358014 + 66886740 67025553 + 67119216 67258082 + 1580863;6480464;7242632;9479164 23200123;23697932 10231032;10531035;10531037;10945468;11214971;12168954;12477932;14702039;15070733;15231748;15489334;15635413;16147992;16362057;17081983;17463251;19001877;19322201;19805303;19850743;20080798;20379134;20417597;20682791;20936779;21029866;21139048;21187428;21251613;21609845;21890473;21988832;22083960;22100412;22635273;23074094;23537643;23559091;24200691;24457600;24482232;24553073;25029110 22992 I3VM53;I3VM54;Q9Y2K7 AB023221;AB490246;ABBA01024044;ABBA01024045;ABBA01024046;ABBA01024047;AF179221;AI185920;AK022684;AK024505;AK128293;AK299725;AL117517;AMYH02024987;AMYH02024988;AMYH02024989;AP000729;AP001885;BC001203;BC027467;BC047371;BC047486;BC056905;BC064360;BE675843;CH471076;DR001963;JQ710741;JQ710742;JQ710743;JQ710744;NM_001256405;NM_012308;NR_027473;XM_006718479;XM_006718480;XM_006718481 AAD56012;AAH01203;AAH47371;AAH47486;AAH64360;AFK81540;AFK81541;AFK81542;AFK81543;BAA76848;BAB15795;BAG61623;BAJ05817;CAH10721;EAW74578;EAW74579;EAW74580;NP_001243334;NP_036440;Q9Y2K7;XP_006718542;XP_006718543;XP_006718544 Hs.124147 1650151;1654155;1745977;1857399;2127575;2128250;2132111;2140425;2143444;2143531;2144602;2167129;2168574;2191303;5094928 AFMA190YD5;D11S4540;FBXL11;G09895;MARC_17215-17216:1023895331:5;RH12099;RH124989;RH18199;RH44634;RH45252;RH65398;STS-H69553;STS-N24829;STS-R06543;STS-Z40471 CXXC8;DKFZp434M1735;FBL11;FBL7;FBXL11;FLJ00115;FLJ46431;JHDM1A;KIAA1004;SF-KDM2A CXXC-type zinc finger protein 8;F-box and leucine-rich repeat protein 11;F-box protein FBL11;F-box protein FBL7;F-box protein Lilina;F-box/LRR-repeat protein 11;LILINA;OTTHUMP00000235168;OTTHUMP00000235169;[Histone-H3]-lysine-36 demethylase 1A;jmjC domain-containing histone demethylation protein 1A;jumonji C domain-containing histone demethylase 1A;lysine-specific demethylase 2A APPROVED protein-coding ENSG00000173120 HGNC:13606 05741 605657 REVIEWED 1353550 KDM4D lysine (K)-specific demethylase 4D ENCODES a protein that exhibits histone demethylase activity (H3-K9 specific); INVOLVED IN histone H3-K9 demethylation; PARTICIPATES IN histone modification pathway; FOUND IN blood microparticle; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; kojic acid 11 11 11 q21 91994632 92020465 + 94706845 94732678 + 94973681 94999514 + 6480464;7242632 23200123 12477932;14702039;15138608;15489334;16554811;16603238;17207460;17555712;18187620;18951430;21145461;21382349;22514644;23219879;24163370;24550317;8889548 55693 Q6B0I6 ABBA01040022;AK001113;AK056162;AL137545;AMYH02025374;AP002383;AW593120;BC031862;BC074739;BC119010;BC122858;CA311555;CH471065;NM_018039 AAH74739;AAI19011;AAI22859;BAA91508;BAG51636;CAB70803;EAW66952;NP_060509;Q6B0I6 Hs.503598 5492667 UniSTS:481960 FLJ10251;JMJD2D;MGC141909 OTTHUMP00000237034;jmjC domain-containing histone demethylation protein 3D;jumonji domain containing 2D;jumonji domain-containing protein 2D;lysine-specific demethylase 4D protein-coding ENSG00000186280 HGNC:25498 17169 609766 VALIDATED 2311613 KDM4E lysine (K)-specific demethylase 4E ENCODES a protein that exhibits dioxygenase activity (inferred); metal ion binding (inferred); INVOLVED IN histone H3-K9 demethylation (inferred); oxidation-reduction process (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); furan (ortholog) 11 11 11 q21 92046235 92048573 + 94758422 94760760 + 95025258 95027596 + 6480464 12477932;21076780;23092293 390245 B2RXH2 ABBA01040020;AMYH02025374;AP002383;BC157851;BC157889;BC171916;NM_001161630 AAI57852;AAI57890;AAI71916;B2RXH2;NP_001155102 Hs.714692 JMJD2E;KDM4DL;MGC189713;MGC189746;MGC198631 KDM4D-like protein;OTTHUMP00000237078;lysine (K)-specific demethylase 4D-like;lysine-specific demethylase 4D-like;lysine-specific demethylase 4E APPROVED protein-coding ENSG00000235268 HGNC:37098 VALIDATED 1343523 KDM3B lysine (K)-specific demethylase 3B ENCODES a protein that exhibits dioxygenase activity (inferred); metal ion binding (inferred); INVOLVED IN chromatin modification (inferred); oxidation-reduction process (inferred); regulation of transcription, DNA-templated (inferred); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Breast Neoplasms; Carcinoma, Non-Small-Cell Lung; Colorectal Neoplasms; FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; menadione; nitric oxide 5 5 5 q31 133809116 133893549 + 137688285 137772716 + 138352596 138437027 + 6480464;7242632;9586735;9586737;9586728;8554872;9586731 18975135;22345654;22615488;23200123;23266085 10470851;10737800;11087669;11161817;11687974;12168954;12477932;15138608;15231748;15302935;15489334;15635413;16603237;17081983;18029348;19322201;19471022;19615732;20379614;20400511;21102462;21139048;21693764;21890473;21906983;21963094;22505724;22863883;23000965;23383273;23455924;24550385;24816145 51780 F5H275;H0Y946;H0Y9V5;Q7LBC6 AB029005;ABBA01068673;ABBA01068674;ABBA01068675;ABBA01068676;ABBA01068677;ABBA01068678;ABBA01068679;ABBA01068680;ABBA01068681;AC104116;AC113403;AF251039;AF338242;AK025755;AK304371;AMYH02012291;BC000539;BC001202;BC073869;BC117693;BC146788;BG390435;BI037147;BU149311;BU506660;BU752879;CH471062;NM_016604;W28844;XM_005272018 AAF63765;AAH00539;AAH01202;AAI17694;AAI46789;AAK13499;BAA83034;BAG65210;EAW62141;EAW62142;NP_057688;Q7LBC6;XP_005272075 Hs.483486 1671338;1675905;1774116;1847924;2121832;5017706 D5S1701;JMJD1B;RH36167;RH68817;RH78329;RH93228 5qNCA;C5orf7;JMJD1B;KIAA1082;NET22 OTTHUMP00000224009;jmjC domain-containing histone demethylation protein 2B;jumonji domain containing 1B;jumonji domain-containing protein 1B;lysine-specific demethylase 3B;nuclear protein 5qNCA protein-coding ENSG00000120733 HGNC:1337 11055 609373 VALIDATED 1320989 KDM2B lysine (K)-specific demethylase 2B This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 121504570 121659235 - 121866899 122019110 - 121429096 121581015 - 737633;1580863;6480464;7242632;8554872;9479164 12477932;23200123;23697932 10799292;14702039;15302935;15489334;15520277;16362057;16943429;17463251;17672918;17704768;17994099;19202064;19471022;20211142;20379614;20682791;21139048;21252908;21693764;22086844;22325352;22581228;22825849;23321669;23395003;24457600;24623842;24853546 84678 F5GXC2;F5GXW2;F5H0A1;F5H4A7;F5H4X4;F5H5W7;F5H6N6;F5H7T7;F8WBN2;Q1RLM7;Q8NHM5;S4R3G4 AA504464;AB031230;ABBA01020163;ABBA01020164;ABBA01020165;ABBA01020166;ABBA01020167;ABBA01020168;ABBA01020169;ABBA01020170;ABBA01020171;ABBA01020172;ABBA01020173;ABBA01020174;AC048337;AC073650;AC145422;AJ459424;AK027440;AK027692;AK074718;AK097933;AK127328;AK299827;AK316470;AL133572;AMYH02027393;AMYH02027394;BC008735;BC028612;BC115379;BC115380;BX648928;CA430876;CH471054;KC877509;NG_033820;NM_001005366;NM_032590;XM_005253954;XM_005253955;XM_005253956;XM_005253961 AAH08735;AAI15380;AAI15381;BAA97672;BAB55112;BAB55301;BAC11159;BAG54483;BAG61696;BAH14841;CAB63721;CAD30700;EAW98266;EAW98267;EAW98268;NP_001005366;NP_115979;Q8NHM5;XP_005254011;XP_005254012;XP_005254013;XP_005254018 Hs.524800 1660000;1674783;1676374;1700028;1724449;2129499;2178029;2179505;5014051;5015861;5015961;5020274;5021872;5037552;5109281;7185938 D10S16;D15S1477;D1S1425;D8S2278;D8S2279;G15664;G29079;L18441;RH103626;RH122387;RH94276;SGC31344;SGC34424;SHGC-56772;sY3084 CXXC2;FBXL10;Fbl10;JHDM1B;PCCX2 CXXC-type zinc finger protein 2;F-box and leucine-rich repeat protein 10;F-box protein FBL10;F-box/LRR-repeat protein 10;JEMMA (Jumonji domain, EMSY-interactor, methyltransferase motif) protein;OTTHUMP00000240026;OTTHUMP00000240027;[Histone-H3]-lysine-36 demethylase 1B;jmjC domain-containing histone demethylation protein 1B;jumonji C domain-containing histone demethylase 1B;jumonji domain-containing EMSY-interactor methyltransferase motif protein;lysine-specific demethylase 2B;protein containing CXXC domain 2;protein-containing CXXC domain 2 APPROVED protein-coding ENSG00000089094 HGNC:13610 12362 609078 REVIEWED 6481130 KDM5C-IT1 KDM5C intronic transcript 1 (non-protein coding) p11.22 100874299 AL139396;BG749918;HG512547 ncrna HGNC:41384 1346422 KDM1A lysine (K)-specific demethylase 1A This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 1 1 1 p36.12 21668066 21732323 + 23345937 23410184 + 23019443 23083691 + 737633;6480464;6484113;7242632;9587460;9586031;8554872 12477932;21936853;22199269;23200123 11102443;11171972;12032298;12493763;14702039;15325272;15489334;15561718;15620353;15811342;16079794;16079795;16140033;16169070;16223729;16531230;16710414;16799558;16885027;16914725;16956976;16987819;17043677;17081983;17145880;17277772;17289570;17367163;17409384;17504018;17511474;17529991;17537733;17634443;17643375;17687328;17707228;17805299;17967884;18156491;18197256;18216119;18247557;18343668;18391013;18501190;18573881;18625718;18806873;19052240;19124609;19223552;19242095;19394292;19471022;19497860;19522008;19703393;19880879;19896696;19934284;20042638;20127736;20164337;20189264;20228790;20331966;20333681;20360068;20389281;20448663;20547759;20562920;20585571;20603083;20616235;20833138;20856864;21098664;21115810;21139048;21142040;21252943;21258344;21300290;21320024;21400613;21510664;21531005;21549307;21602794;21670149;21693764;21876670;21890473;21903422;21906983;21937684;21963094;21975933;21987572;22067449;22068108;22143567;22169281;22245111;22278882;22310283;22354994;22399799;22447389;22464800;22493729;22505724;22534796;22542627;22558309;22586326;22797925;22802671;22912744;22939629;22990118;23000965;23011797;23015317;23022380;23054398;23072722;23178685;23236241;23248157;23275444;23314859;23349634;23354309;23384557;23400681;23455924;23528269;23592333;23592795;23626788;23747727;23752268;23755305;23803414;23806369;23900215;23922913;23928305;24068396;24075993;24190971;24217620;24316513;24332808;24388204;24457600;24486797;24561118;24732800;24744315;24993879;25027693;9179496;9628581;9804427 23028 O60341;R4GMP9;R4GMQ1 AA664447;AB011173;ABBA01059860;ABBA01059861;AK128669;AK290328;AL031428;AL833812;AMYH02000483;BC016639;BC025362;BC040194;BC048134;BG717076;BQ006926;CH471134;HI929453;HI964241;NM_001009999;NM_015013;XM_005245786;XM_006710472;XM_006710473;XM_006710474 AAH16639;AAH25362;AAH40194;AAH48134;BAA25527;BAF83017;CAD38675;CBY79414;CBY88366;EAW95031;EAW95032;EAW95033;NP_001009999;NP_055828;O60341;XP_005245843;XP_006710535;XP_006710536;XP_006710537 Hs.591518 1662286;1662845;1677266;1727929;1847438;2140207;2149024;2169619;2173274;2181323;2185948 AFMa129zb5;AL009553;AL009905;G63383;RH63847;RH69757;RH98397;SHGC-33933;SHGC-33968;SHGC-74369;SHGC-74372 AOF2;BHC110;KDM1;KIAA0601;LSD1;RP1-184J9.1 BRAF35-HDAC complex protein BHC110;FAD-binding protein BRAF35-HDAC complex, 110 kDa subunit;OTTHUMP00000003255;OTTHUMP00000003256;amine oxidase (flavin containing) domain 2;flavin-containing amine oxidase domain-containing protein 2;lysine (K)-specific demethylase 1;lysine-specific histone demethylase 1;lysine-specific histone demethylase 1A APPROVED protein-coding ENSG00000004487 HGNC:29079 09800 609132 REVIEWED 1349337 KDM5C lysine (K)-specific demethylase 5C This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] X X X p11.22-p11.21 57049741 57083840 - 53220503 53254604 - 53191321 53225422 - 6480464;6907133;6907137;7240710;7242632;8554872;9587779;9586031;8699517;9586022 21654818;22035299;22199269;22326837;23200123;23932495 12477932;14660691;15302935;15586325;15772651;15840729;16344560;16538222;16541399;16964243;17081983;17320160;17320161;17468742;18078810;18697827;19346402;19826449;20054297;20538609;21139048;21252943;21575681;21725364;21890473;21963094;21996408;22611640;22939629;23246292;23356856;24029645;24250222;7951230;8162017 8242 F8W7H7;F8WDK1;F8WF56;P41229 ABBA01056384;ABBA01056385;ABBA01056386;ABBA01056387;ABBA01056388;ABBA01056389;ABBA01056390;AI221739;AK304732;AK308077;AL139396;AMYH02039459;AMYH02039460;AMYH02039461;BC047751;BC054499;BI711169;CH471154;DB229140;EF613277;L25270;NG_008085;NM_001146702;NM_001282622;NM_004187;XM_005262035;XM_006724609;Z29650 AAA61302;AAH54499;ABR13544;ABZ92271;ACE86790;ACE87476;BAG65494;CAA82758;EAW93145;EAW93146;NP_001140174;NP_001269551;NP_004178;P41229;XP_005262092;XP_006724672 Hs.631768 1644355;1675469;1681370;1684768;1728913;1793600;1794322;5093828;5109463;5492131 A009X24;DXS1272E;G32947;G42695;PMC24149P1;PMC311008P3;RH80792;RH81091;RH93069;Smcx DXS1272E;JARID1C;MRX13;MRXJ;MRXSCJ;MRXSJ;SMCX;XE169 JmjC domain-containing protein SMCX;Jumonji, AT rich interactive domain 1C (RBP2-like);Jumonji/ARID domain-containing protein 1C;OTTHUMP00000023342;OTTHUMP00000023343;OTTHUMP00000023344;OTTHUMP00000197652;Smcx homolog, X chromosome;Smcy homolog, X-linked;histone demethylase JARID1C;jumonji, AT rich interactive domain 1C;lysine-specific demethylase 5C;mental retardation, X-linked 13;selected cDNA on X;smcy homolog, x-linked (mouse) APPROVED protein-coding ENSG00000126012 HGNC:11114 02442 300534;314690 REVIEWED 1322449 KDM5B lysine (K)-specific demethylase 5B ENCODES a protein that exhibits histone demethylase activity (H3-dimethyl-K4 specific); histone demethylase activity (H3-trimethyl-K4 specific); transcription corepressor activity; INVOLVED IN histone H3-K4 demethylation; histone H3-K4 demethylation, trimethyl-H3-K4-specific; negative regulation of transcription, DNA-templated; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Breast Neoplasms; Colorectal Neoplasms; Esophageal Squamous Cell Carcinoma; FOUND IN nucleus (inferred); INTERACTS WITH acetylsalicylic acid; all-trans-retinoic acid; benzene 1 1 1 q32.1 175824418 175906769 - 202696532 202777549 - 202727404 202808421 - 1580863;6480464;7242632;9587774;9587775;9587776;9587778;9587777;8554872;9587743;9587744 10336460;18048344;20226085;21369698;22534467;22669717;23200123;23354547 10878660;11478881;11483573;12237901;12657635;14702039;15640446;15803180;16541399;16645588;17363312;17373667;17709396;17973255;18029348;19242095;19322201;19336002;19389623;19460752;19471022;19536175;19615732;20403335;20478252;20832725;20863814;21105039;21139048;21502505;21693764;21821892;21890473;21906983;21937684;21963094;21969366;21980403;21987572;22152480;22371483;22505724;22615382;23262439;23408432;23759590;23970103;24412361;24778210;24937458 10765 B3KV94;Q9UFD3;Q9UGL1;R4GN45 AB015348;ABBA01027495;ABBA01027496;ABBA01027497;AC098934;AC104463;AF087481;AJ132440;AJ243706;AK001400;AK022521;AK022553;AK074250;AK122752;AK125746;AL133040;AL133048;AL133072;AL137622;AMYH02002502;AMYH02002503;AMYH02002504;AY370676;CF593335;CH471067;NM_006618 AAD16061;AAI56050;AAI57032;AAQ82849;BAA34803;BAG50904;BAG51084;BAG51090;BAG53706;CAB43532;CAB61368;CAB61375;CAB61395;CAB63108;CAB70847;EAW91432;EAW91433;EAW91434;EAW91435;NP_006609;Q9UGL1 Hs.443650 1674571;1681732;1715043;1765619;1855388;2142994;2175520;2180542;2217502 AL009885;D1S1875E;JARID1B_3532;RH120083;RH12289;RH69432;SHGC-149068;SHGC-32074;SHGC-76133 CT31;FLJ10538;FLJ12459;FLJ12491;FLJ16281;FLJ23670;JARID1B;PLU-1;PLU1;PPP1R98;PUT1;RBBP2H1A OTTHUMP00000038815;OTTHUMP00000038816;OTTHUMP00000197658;RBP2-H1;RBP2-like;cancer/testis antigen 31;histone demethylase JARID1B;jumonji, AT rich interactive domain 1B;jumonji, at rich interactive domain 1b (rbp2-like);jumonji/ARID domain-containing protein 1B;lysine-specific demethylase 5B;putative DNA/chromatin binding motif;retinoblastoma-binding protein 2 homolog 1;retinoblastoma-binding protein 2, homolog 1A protein-coding ENSG00000117139 HGNC:18039 09251 605393 VALIDATED 1316776 KDM4C lysine (K)-specific demethylase 4C This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein with one JmjC domain, one JmjN domain, two PHD-type zinc fingers, and two Tudor domains. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form. Chromosomal aberrations and increased transcriptional expression of this gene are associated with esophageal squamous cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 9 9 9 p24.1 6649815 7106122 + 6720863 7175648 + 6720863 7175648 + 6480464;7242632;9587486;9587746;9587748;9587745;9587479;9587481;9587485;9587482;9587752;9587460;9587484;8554872;9587741 15805246;19270706;19339270;19784073;20127736;20410850;21936853;22072270;22483639;23129632;23200123;24224128;24952432 10987278;12477932;15138608;15164053;15489334;16344560;16603238;16732293;17207460;17277772;17403666;17611647;18066052;18649358;18713068;18927281;20379614;20889312;20923822;21575637;21637537;21890473;23067339;23148692;23149075;23251661;23692052;23698634;24285722;9872452 23081 B0QZ60;B4E142;B4E239;B7Z3V6;C9J879;F5GYH2;F8WCN1;Q9H3R0 AB018323;AB037901;ABBA01065377;ABBA01065378;ABBA01065379;ABBA01065380;ABBA01065381;ABBA01065382;ABBA01065383;ABBA01065384;AF085959;AI017056;AK296401;AK303651;AK304032;AK304095;AK310439;AK314355;AL137020;AL161443;AL354707;AL445592;AL513412;AMYH02019099;AMYH02019100;AMYH02019101;AMYH02019102;AMYH02019103;AMYH02019104;AMYH02019105;AMYH02019106;AMYH02019107;BC008296;BC036628;BC053678;BC060771;BC104859;BC104861;BC143571;BX111090;CH471071;DA470476;NM_001146694;NM_001146695;NM_001146696;NM_015061;XM_006716741;XR_428422 AAI04860;AAI04862;AAI43572;BAA34500;BAB16102;BAG64654;BAG64946;BAG65001;BAH12342;EAW58730;EAW58731;EAW58732;EAW58733;EAW58734;NP_001140166;NP_001140167;NP_001140168;NP_055876;Q9H3R0;XP_006716804 Hs.709425 1334628;1647311;1651562;1651564;1677686;1681163;1684383;1685179;1688755;1703234;1703468;1706414;1707044;1767453;1787054;1789100;1793360;1850150;2107237;2119876;2124052;2131738;2154474;2154490;2160504;2181076;2185252 A005A28;CHLC.GGAT12H06;D9S1741;D9S1988;D9S281;G20220;G29179;G65684;JMJD2C__6490;PMC21334P2;RH11993;RH78744;RH80446;RH80582;RH92434;RH93868;RH98875;SGC32195;SGC38281;SHGC-154051;SHGC-80784;SHGC-81035;SHGC-82577;STS-H68313;WI-12612;WI-17067;WI-18118 FLJ25949;GASC1;JHDM3C;JMJD2C;KIAA0780;TDRD14C;bA146B14.1 GASC-1 protein;JmjC domain-containing histone demethylation protein 3C;OTTHUMP00000021052;OTTHUMP00000021053;gene amplified in squamous cell carcinoma 1 protein;jumonji domain containing 2C;jumonji domain-containing protein 2C;lysine-specific demethylase 4C;tudor domain containing 14C APPROVED protein-coding ENSG00000107077;ENSG00000274527 HGNC:17071 12016 605469 REVIEWED 2794502 KDM5DP1 lysine (K)-specific demethylase 5D pseudogene 1 Y Y Y q11.221 7438525 7439399 - 22731576 22732450 - 20569690 20570564 - 12815422;9847074 359796 ABBA01057455;AC007678;NG_002818 SMCYP pseudo HGNC:23976 INFERRED 1349901 KDM4B lysine (K)-specific demethylase 4B ENCODES a protein that exhibits dioxygenase activity (inferred); zinc ion binding (inferred); INVOLVED IN chromatin modification (inferred); oxidation-reduction process (inferred); regulation of transcription, DNA-templated (inferred); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Alopecia Areata; Breast Neoplasms; Colorectal Neoplasms; FOUND IN cell junction; focal adhesion; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; benzo[a]pyrene 19 19 19 p13.3 4906316 5091160 + 4969123 5153609 + 4969112 5153598 + 1580863;6480464;7242632;9586735;9587740;9587755;9587481;9587739;9587754;9587753;9587460;8554872;9586733;9587769 19270706;21445275;21785329;21930796;21936853;22120715;22133676;22345654;23200123;24077348;24473398 10048485;10737800;12168954;12477932;15057824;15138608;15302935;15489334;15927959;16169070;16344560;16603238;17611647;18713068;18984585;20379614;20682797;21502505;21906983;22505724;22745382;22770241;22939629;23046878;23376847;23455924;23589305;24024966;24816145;8619474;9110174 23030 F5GX28;K7EQ54;K7ES23;O94953 AB020683;ABBA01056026;ABBA01056027;ABBA01056028;ABBA01056029;ABBA01056030;AC005595;AC022517;AC053467;AC093033;AC104520;AF052144;AK026040;AK126854;AL133622;AMYH02035310;AMYH02035311;AMYH02035312;AMYH02035313;AMYH02035314;AMYH02035315;AMYH02035316;AMYH02035317;BC015378;BC040014;BC046167;BC063889;BC136611;BC144292;BF917212;CH471139;DA379611;DB636535;KC877698;KC877705;NM_015015;XM_005259521;XM_005259522 AAF31271;AAH63889;AAI36612;AAI44293;BAA74899;BAG54381;CAB63748;EAW69180;EAW69181;EAW69182;EAW69183;NP_055830;O94953;XP_005259578;XP_005259579 Hs.654816 1783810;2122383;2150252;2185760;5022651;5024039 D11S2921;D16S325;D19S1137;RH65659;SHGC-149629;WI-15786 FLJ44906;JMJD2B;KIAA0876;TDRD14B jmjC domain-containing histone demethylation protein 3B;jumonji domain containing 2B;jumonji domain-containing protein 2B;lysine-specific demethylase 4B;tudor domain containing 14B protein-coding ENSG00000127663 HGNC:29136 11056 609765 VALIDATED 1346764 KDM5D lysine (K)-specific demethylase 5D This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Y Y Y q11 5866720 5906241 + 21867301 21906825 - 19703865 19744939 - 6480464;7242632;8699517;8554872 23200123 10747295;10861003;12477932;12815422;14660691;14702039;15613541;16344560;16541399;16988213;17320160;17320162;18459961;19223392;19541808;20301513;21890473;21963094;7524912;7667640;8841177;9039502;9060413;9143681;9678364;9798702 8284 B4E1Y0;C9JGA3;E9PFH2;H7BZF9;Q9BY66 AA864889;ABBA01073781;ABBA01073782;ABBA01073783;ABBA01073784;ABBA01073785;ABBA01073786;AC010889;AF134849;AF273841;AK095923;AK127269;AK304027;BC011053;BC132721;BC144101;BC144102;BC146767;BM052719;BM455812;BX648643;CH471202;D87072;DA940867;NG_032920;NM_001146705;NM_001146706;NM_004653;U52191;U52365;XM_005262560;XM_005262561;XM_005262562;XM_005262563;XR_244571;XR_430568 AAC50806;AAC51135;AAG00951;AAI32722;AAI44103;AAI46768;AAK27839;BAA13241;BAG54468;BAG64942;EAW54663;EAW54664;NP_001140177;NP_001140178;NP_004644;Q9BY66;XP_005262617;XP_005262618;XP_005262619;XP_005262620 Hs.80358 1686182;1747253;1747261;1747263;1747265;1747267;1747269;1747271;1747273;1747275;1747277;1747279;1747281;1747283;1747285;1747287;1747289;1747291;1747297;1747675;1747677;1747679;1747681;1747683;1747685;1747687;1747689;1747691;1747693;2188665;2188683;2217504;5021622;5021624;5021626;5022875;5022877;5022879;5022881;5115578;5115580;5115582;5115584;5115586;5115588;5115590;5115592;5115594;5115596;5115598;5115600;5115602;5115604;5115606;5115608;5115610;5115612;5115614 G65278;G65280;G65282;G65283;G65284;G65311;G65312;G65313;G65314;G65315;G65317;G65318;G65319;G65320;G65321;G65322;G65323;G65324;G65492;G65493;G65494;G65496;G65497;G65498;G65499;G65500;G65536;G65537;G66385;G66544;JARID1D_3488;RH79888;SMCY-1;SMCY-10;SMCY-11;SMCY-12;SMCY-13;SMCY-14;SMCY-15;SMCY-16;SMCY-17;SMCY-18;SMCY-19;SMCY-2;SMCY-20;SMCY-21;SMCY-22;SMCY-23;SMCY-24;SMCY-25;SMCY-26;SMCY-27;SMCY-3;SMCY-4;SMCY-5;SMCY-6;SMCY-7;SMCY-8 H-Y;HY;HYA;JARID1D;KIAA0234;SMCY Jumonji, AT rich interactive domain 1D (RBP2-like);OTTHUMP00000034664;OTTHUMP00000034665;OTTHUMP00000034667;SMC homolog, Y chromosome;Smcy homolog, Y chromosome;Smcy homolog, Y-linked;histocompatibility Y antigen;histone demethylase JARID1D;jumonji, AT rich interactive domain 1D;jumonji/ARID domain-containing protein 1D;lysine-specific demethylase 5D;selected mouse cDNA on Y, human homolog of;smcy homolog, y-linked (mouse) APPROVED protein-coding ENSG00000012817;ENSG00000278871;ENSG00000280101;ENSG00000280358 HGNC:11115 02464 426000 REVIEWED 1602684 KDM8 lysine (K)-specific demethylase 8 This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009] 16 16 16 p12.1 25993442 26011724 + 27214807 27233089 + 27203486 27221768 + 6480464;7242632 23200123 12477932;14702039;16189514;16344560;16858412;17909537;20457893;21115819;22375008;22851697;23251661;23948433;24100311;24250222;24344305;8125298 79831 H3BM39;H3BPT5;H3BR76;Q8N371 ABBA01017151;AC092725;AC106739;AC109449;AK023860;AK225066;AK297166;AK298410;AK308499;AK310885;AMYH02031763;AY345239;BC027911;BQ022832;CH471145;DA497245;NM_001145348;NM_024773;XM_006721092;XM_006721093 AAH27911;AAQ23080;ADZ15750;BAB14706;BAG59661;BAG60638;EAW55759;NP_001138820;NP_079049;Q8N371;XP_006721155;XP_006721156 Hs.145717 FLJ13798;JMJD5 OTTHUMP00000162455;jmjC domain-containing protein 5;jumonji domain containing 5;jumonji domain-containing protein 5;lysine-specific demethylase 8 APPROVED protein-coding ENSG00000155666 HGNC:25840 07836 611917 REVIEWED 1313452 KDM5A lysine (K)-specific demethylase 5A This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013] 12 12 12 p11 1998056 2107462 - 389223 498620 - 280057 389455 - 1580863;6480464;7242632;9587460;9587761;8554872;9586731 21936853;23200123;23266085;24200674 11358960;11445587;12477932;14702039;15302935;15640446;15949438;16344560;16541399;16645588;17081983;17320161;17573780;18029348;18483221;1857421;18722178;19430464;19762557;20231316;20383146;21139048;21348942;21562575;21693764;21890473;21935404;21963094;22505724;22615382;23093672;23752268;24069348;7935440;8125298;8414517;8530100;8619474;8889549;9110174;9129143 5927 E7EV89;F5GZ99;F5GZR8;F5H1F7;F5H322;P29375 AA101935;AB209999;ABBA01048855;ABBA01048856;AC005844;AC007406;AF007135;AK057703;AK225060;AK301150;AK301273;AK307580;AK307689;AL133026;AMYH02025850;AMYH02025851;BC048307;BC053893;BC092417;BC110916;BU182136;CH471116;DA211439;DB079061;NM_001042603;S66431 AAB28544;AAH48307;AAH53893;AAI10917;AAI56462;AAI72533;BAE06081;BAG62741;BAG62835;EAW88970;EAW88971;NP_001036068;P29375 Hs.76272 1656723;1656865;1660401;1688620;1710324;1733596;1761065;1797766;1851252;1854573;2119136;2130767;2140085;2141044;2159660;2168826;2184829 A003M44;D12S1897;D12S1914;D12S928;G41014;JARID1A_2177;RH11182;RH44598;RH47587;RH66643;RH68615;RH70148;RH70779;RH75356;SHGC-145012;SHGC-82407;STS-R65684 JARID1A;RBBP-2;RBBP2;RBP2 Jumonji, AT rich interactive domain 1A (RBP2-like);OTTHUMP00000237742;histone demethylase JARID1A;jumonji, AT rich interactive domain 1A;jumonji/ARID domain-containing protein 1A;lysine-specific demethylase 5A;retinoblastoma binding protein 2;retinoblastoma-binding protein 2 APPROVED protein-coding ENSG00000073614 HGNC:9886 08915 180202 REVIEWED 1316934 KDM6B lysine (K)-specific demethylase 6B ENCODES a protein that exhibits histone demethylase activity (H3-K27 specific); INVOLVED IN cardiac muscle cell differentiation (ortholog); endothelial cell differentiation (ortholog); mesodermal cell differentiation (ortholog); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH cobalt dichloride; crocidolite asbestos; cyclosporin A 17 17 17 p13.1 7771102 7785939 + 7737521 7758118 + 7834203 7854800 + 1580863;6480464;7242632;8554872 23200123 10662545;12477932;17713478;17825402;17923864;18003914;18628393;19451217;20571128;20574068;20667911;21209387;21242977;21245294;21841772;21890490;21900206;22020331;22252741;22505724;22589717;22713873;22770241;22782721;22907667;22915621;22955275;23152497;23236496;23538751;23711388;24158144;24572572;24726732;9205841 23135 I3L0Z0;O15054 AB002344;ABBA01054889;AC025335;AC104581;AMYH02032916;BC009994;BC035897;CH471108;NM_001080424;XM_005256549;XM_005256550;XM_005256551;XM_005256552;XM_005256554;XM_006721483;XM_006721484 AAH09994;BAA21572;EAW90127;EAW90128;NP_001073893;O15054;XP_005256606;XP_005256607;XP_005256608;XP_005256609;XP_005256611;XP_006721546;XP_006721547 Hs.223678 JMJD3;KIAA0346 jmjC domain-containing protein 3;jumonji domain containing 3, histone lysine demethylase;jumonji domain-containing protein 3;lysine demethylase 6B;lysine-specific demethylase 6B protein-coding ENSG00000132510 HGNC:29012 611577 PROVISIONAL 1605110 KEAP1 kelch-like ECH-associated protein 1 This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 10491509 10508764 - 10596796 10614054 - 10486120 10503378 - 6480464;6893370;6893300;6893397;6893398;6892949;6893395;6893386;6893372;5134973;6892947;6892951;6893270;6892954;6892955;5133246;6902919;6907045 18078953;18417483;18559366;18692501;18957896;19520915;19671143;20007347;20718723;20734248;21075092;21439372;21799073;22367278;22459801;22609006 11439354;11909699;11921171;12145307;12360409;12477932;12947090;14517290;14585973;14702039;15166316;15231748;15282312;15367669;15379550;15383316;15475350;15572695;15583386;15601839;15917255;15983046;15985429;16000310;16006525;16137655;16189514;16204884;16344560;16507366;16508120;16687406;16790436;16888629;17015834;17020408;17046835;17145701;17259171;17439941;17462537;17510365;17603223;17636022;17822677;17903176;17925401;17980616;18029348;18062931;18240569;18251510;18316592;18358244;18387606;18417180;18476723;18555005;18757741;18829555;18981988;19321346;19409485;19424503;19424632;19489739;19608619;19615732;19706542;19818716;19920073;19967722;20027226;20061377;20064547;20124447;20196834;20213688;20378532;20421418;20427290;20452971;20452972;20463144;20484052;20486933;20495340;20534351;20534738;20562859;20599909;20600852;20801881;21044950;21139048;21145461;21173573;21248763;21251164;21262351;21357422;21383067;21482715;21506927;21610322;21676886;21693047;21795997;21875324;21890473;21897267;21900206;21903422;21906983;21926171;21963094;21988832;22053931;22072718;22089114;22125611;22215675;22245129;22279539;22348534;22448038;22505724;22558124;22683333;22684020;22872865;22874821;22911784;22943825;23045278;23047008;23052169;23056183;23061798;23066931;23075683;23117207;23188707;23213463;23242280;23249627;23274085;23281314;23318954;23382044;23390006;23402259;23454126;23455180;23645672;23674500;23676014;23722832;23724128;23727018;23766854;23795962;23824739;23857982;23938463;23986495;24011591;24127568;24130096;24224011;24250222;24322982;24323028;24386210;24512214;24704364;24778252;24896564;25036637;8590280;9887101 9817 K7EJ49;K7EJD8;K7EMY1;K7EPZ3;K7EQX2;K7ESE0;Q14145 ABBA01029920;ABBA01029921;AC011461;AF361886;AF361892;AK056204;AMYH02035498;AU130822;BC002417;BC002930;BC003156;BC014118;BC015945;BC021957;CH471106;D50922;NM_012289;NM_203500;XM_005260173;XM_005260174 AAH02417;AAH02930;AAH15945;AAH21957;AAK43722;AAK51082;ABM84565;ABM86523;ABW03660;BAA09481;BAG51647;EAW84110;EAW84111;EAW84112;NP_036421;NP_987096;Q14145;XP_005260230;XP_005260231 Hs.465870 1647431;1664541;1695312;1754699;2131890 Bda20d07;G29193;RH25355;SHGC-133060;SHGC-63493 INrf2;KIAA0132;KLHL19;MGC10630;MGC1114;MGC20887;MGC4407;MGC9454 cytosolic inhibitor of Nrf2;kelch-like family member 19;kelch-like protein 19 APPROVED protein-coding ENSG00000079999 HGNC:23177 12079 606016 REVIEWED 1353242 KERSMCR cytokeratin, Smith Magenis syndrome chromosome region 10615134;1694815 27168 HGNC:6310 1317161 KDSR 3-ketodihydrosphingosine reductase The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008] 18 18 18 q21.3 57714472 57754142 - 60994971 61034506 - 63327738 63367273 - 1598985;1580863;6480464;6907045;8554872 8417785 12477932;12960700;14702039;15328338;15364918;15489334;16711541;17420465;18395445;19019774;19027726;19322201;19773279;19946888;20855565;21988832;23000965;7949096 2531 K7EQS7;K7ERC8;Q06136 ABBA01056215;ABBA01056216;AC021803;AC036176;AF086045;AK025120;AK093874;AK126679;AK297670;AK312360;AMYH02034883;AMYH02034884;AMYH02034885;BC008797;BI458411;BT006782;CH471096;NG_028249;NM_002035;X63657;XM_005266677;XM_006722433 AAH08797;AAP35428;BAG35278;BAG60032;CAA45197;EAW63140;EAW63141;NP_002026;Q06136;XP_005266734;XP_006722496 Hs.74050 1644605;1658693;1687273;1716761;1795878;2148281;2163572;2172232;5015861;5015961;5037552;7185938 D10S16;D15S1477;D18S1033;D18S1366;D8S2279;FVT1_115;RH121674;RH44852;RH91892;SHGC-30232;STS-T87876 DHSR;FLJ36555;FLJ92680;FVT-1;FVT1;SDR35C1 3-dehydrosphinganine reductase;KDS reductase;OTTHUMP00000163681;follicular lymphoma variant translocation 1;follicular variant translocation protein 1;short chain dehydrogenase/reductase family 35C, member 1 APPROVED protein-coding ENSG00000119537 HGNC:4021 00640 136440 REVIEWED 1316929 KEL Kell blood group, metallo-endopeptidase This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008] 7 7 7 q33 137475061 137496363 - 142638201 142659503 - 142941114 142962416 - 1580863;6480464;8554872 10438732;10556484;10620363;11134029;11375401;12477932;12842980;13477267;15489334;15754970;15769748;16189514;16423827;1712490;17379193;18067501;18187620;18510579;19347978;19747286;20431033;20609202;21145461;21900206;23314748;23581578;23721226;23727116;24795954;2980265;7570911;7683930;7737196;7849312;7858266;8652402;8669078;9647734 3792 E7ETW3;E9PHG0;H0Y8A1;P23276 ABBA01034131;AC099652;AC245136;AF172627;AF279657;AK314831;AM183928;AM183929;AM183930;AW294875;AY228336;BC003135;BC050639;CH236959;CH471198;FN998902;HE572750;KC922434;M64934;NG_007492;NM_000420;S76770;S80081;XM_005249993;XM_005249994;XM_005249995;XM_005276988;XM_005276989;XM_005276990 AAA03192;AAB33389;AAB33459;AAB47018;AAH03135;AAH50639;AAK69488;AAO38053;ABM87775;ABW03867;BAG37351;CAJ75457;CAJ75458;CAJ75459;CBS91665;CCC42286;EAW51891;EAW51892;EAW51893;NP_000411;P23276;XP_005250050;XP_005250051;XP_005250052;XP_005277045;XP_005277046;XP_005277047 Hs.368588 1659451;1704610;1854316;2108185;2121871 D7S2887;KEL;KEL_8423;SHGC-37612;SHGC-81465 CD238;ECE3 OTTHUMP00000211578;kell blood group antigen;kell blood group glycoprotein APPROVED protein-coding ENSG00000197993 HGNC:6308 00194 110900;613883 REVIEWED 1346346 KFM Klippel-Feil malformation 3793 HGNC:6311 1354488 KDM6A lysine (K)-specific demethylase 6A This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014] X X X p11.2 48869187 49108532 + 44732419 44972024 + 44873175 45112779 + 1580863;6480464;6907133;6907137;7242632;9586731;8699517;7240710;9586031;9587761;8554872;9479053 21654818;22035299;22199269;22663077;23200123;23266085;24200674 10767340;12477932;14660691;15231748;15302935;15345747;15758204;17178841;17500065;17713478;17761849;17825402;17851529;17925232;18003914;18029348;19047629;19330029;19377476;20054297;20123895;20305087;20442750;20516061;21139048;21209387;21245294;21515470;21575637;21828135;21841772;21865393;21882399;21890473;22002947;22192413;22197486;22306297;22589717;22801502;22840376;22907667;23076834;23184418;23365460;23527641;23644518;23913813;24123378;24491801;9381176;9499428;9854018 7403 B4E0L8;B7ZKN1;B7ZKN5;B7ZKN6;E1U0S6;F5H5V6;F5H6S1;F8W8R6;H0Y5J3;H0Y6I7;H0Y6V5;H7C1F1;O15550;Q59HG3;Q86TD1 AB208795;ABBA01046269;ABBA01046270;ABBA01046271;ABBA01046272;ABBA01046273;ABBA01046274;ABBA01046275;ABBA01046276;ABBA01046277;ABBA01046278;ABBA01046279;ABBA01046280;ABBA01046281;ABBA01046282;ABBA01046283;ABBA01046284;ABBA01046285;ABBA01046286;ABBA01046287;ABBA01046288;ABBA01046289;ABBA01046290;ABBA01046291;ABBA01046292;ABBA01046293;ABBA01046294;ABBA01046295;ABBA01046296;ABBA01046297;ABBA01046298;ABBA01046299;ABBA01046300;AC136488;AF000992;AF000993;AI364446;AK294456;AK303430;AK304114;AK307691;AL041377;AL133545;AL138744;AL831996;AMYH02039246;AMYH02039247;AMYH02039248;AMYH02039249;AY591397;BC093868;BC113381;BC143272;BC143275;BC143277;BC143278;BX640694;CH471141;CR749602;DC381812;DQ062676;DQ062677;DQ062678;EU026283;EU026291;KF510678;NG_016260;NM_001291415;NM_001291416;NM_001291417;NM_001291418;NM_001291421;NM_021140;NR_111960;XM_005272655;XM_005272656;XM_005272657;XM_005272658;XM_005272659;XM_005272660;XM_005272661;XR_430507 AAC51839;AAC51840;AAH93868;AAI13382;AAI43273;AAI43278;AAI43279;AAT86073;AAZ06655;AAZ06656;AAZ06657;ABV82614;ABV82622;BAD92032;BAG57692;BAG64480;BAG65015;CAD89904;CAE45817;CAH18397;EAW59368;NP_001278344;NP_001278345;NP_001278346;NP_001278347;NP_001278350;NP_066963;O15550;XP_005272712;XP_005272713;XP_005272714;XP_005272715;XP_005272716;XP_005272717;XP_005272718 Hs.522616 1730421;2110795;2122202;2167109;2176774;5092370 1376;D13S185;G34976;G49474;RH66464;UTX_8713 DKFZp686A03225;KABUK2;MGC141941;UTX;bA386N14.2 OTTHUMP00000023175;bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX));histone demethylase UTX;lysine-specific demethylase 6A;ubiquitously transcribed TPR protein on the X chromosome;ubiquitously transcribed X chromosome tetratricopeptide repeat protein;ubiquitously transcribed tetratricopeptide repeat protein X-linked;ubiquitously-transcribed TPR gene on the X chromosome;ubiquitously-transcribed TPR protein on the X chromosome;ubiquitously-transcribed X chromosome tetratricopeptide repeat protein APPROVED protein-coding ENSG00000147050 HGNC:12637 02131 300128;300867 REVIEWED 1606499 KDM7A lysine (K)-specific demethylase 7A ENCODES a protein that exhibits histone demethylase activity (H3-K27 specific); histone demethylase activity (H3-K36 specific); histone demethylase activity (H3-K9 specific); INVOLVED IN histone H3-K27 demethylation; histone H3-K36 demethylation; histone H3-K9 demethylation; PARTICIPATES IN histone modification pathway; FOUND IN nucleolus; nucleus; INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 7 7 7 q34 134506404 134598541 - 139784546 139876741 - 140084746 140176941 - 6480464;7242632 23200123 11214970;12477932;14702039;18029348;18187620;20023638;20084082;22143793;24250222 80853 H9KVD6;Q6ZMT4 AB051505;ABBA01034056;ABBA01034057;ABBA01034058;AC004849;AK057208;AK131497;AMYH02016896;AMYH02016897;BC127007;BX641017;BX649115;CH236950;CH471070;NM_030647 AAI27008;AAS00360;BAB21809;BAD18641;CAE46011;EAL24032;EAW83940;NP_085150;Q6ZMT4 Hs.308710 1338681;1670441;1672472;1715287;1720075;1856289;2130881;2158017;2183214 D7S1518;GDB:1318569;GDB:3755067;RH120474;RH123779;RH18256;SHGC-34239;STS-D29463;STS-R69609 JHDM1D;KIAA1718 OTTHUMP00000211962;histone lysine demethylase JHDM1D;jmjC domain-containing histone demethylation protein 1D;jumonji C domain containing histone demethylase 1 homolog D;jumonji C domain-containing histone demethylase 1 homolog D;lysine-specific demethylase 7;lysine-specific demethylase 7A APPROVED protein-coding ENSG00000006459 HGNC:22224 VALIDATED 1347758 KFSD keratosis follicularis spinulosa decalvans ASSOCIATED WITH Keratosis Follicularis Spinulosa Decalvans, X-Linked (inferred) 7240710 3794 HGNC:6313 308800 731018 KDR kinase insert domain receptor (a type III receptor tyrosine kinase) Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009] 4 4 4 q11-q12 53446341 53493673 - 55944426 55991762 - 55078259 55125595 - 1580863;1581717;1304323;1581706;1581713;1626621;1334463;2292019;2291926;2291951;2298727;2313728;2313724;2291925;2291936;2291934;2291949;2291950;2289964;2301252;2298729;2301761;2301756;2301760;2313725;2301758;2301757;2301759;2301755;2301848;2291929;2291952;5684417;1580568;5684385;5684411;5684420;5684382;5684406;5684414;5684389;5684395;5684393;5135061;5684418;5684404;5684407;5684541;5684425;5684426;5684427;5684415;5684538;5684396;5684424;6480464;5684383;5684397;5684428;5684533;5684399;5684402;6484113;6907361;6907045;7207796;8551768;7421586;8552376;8552377;8547977;8552335;8549759;8549716;8549715;8549754;8552374;8552338;8551843;8549713;8551769;8552360;8551851;8549738;8549742;8551844;8552334;8549753;8549714;8549752;8549762;8549773;8551779;8551781;8549772;8551771;8549718;7240710;8551824;8551845;8551848;8551850;8552361;8552363;8549755;8549741;8549746;8549747;1581593;8549717;8554872;8699517 10371349;10506722;10554031;11218896;11220380;11745191;12036917;12378509;12485477;12515274;12541477;12692851;12875575;12937991;12940780;14511401;15039215;15098654;15170218;15249365;15500639;15563310;15665766;15681497;15714119;15753992;15785231;15823121;15838270;15885787;15951738;16139132;16251423;16410746;16422887;16515971;16557278;16633338;16698275;16741021;16816123;16835828;16873710;16951377;17303776;17332933;17349140;17402857;17409380;17465216;17491265;17570036;17584927;17651148;17653245;17658244;17898089;18221855;18263815;18408080;18436847;18614764;18645275;18951929;19013462;19085383;19233483;19380367;19733172;19886888;19888452;19930156;20056215;20058324;20071151;20101028;20501615;20630084;20705122;20808233;20921519;21098094;21277350;21307798;21412823;21528367;21691137;21730877;21731737;21865112;21984395;22121831;22170007;22261574;22271757;22426483;22919317;22997228;23221067;23376569;23411880;23732650;24365177;7876550 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;23418605;23424651;23454747;23475388;23511629;23516476;23533349;23536763;23548264;23555666;23583911;23609797;23620752;23624620;23635398;23636508;23684887;23685409;23688497;23697367;23708980;23709605;23723256;23749886;23754286;23759331;23771478;23792958;23794399;23799140;23831629;23861747;23898208;23934537;23940030;23971975;23972086;23990986;24120473;24123039;24170768;24184958;24260556;24296159;24300896;24303885;24335081;24341227;24442426;24522370;24568071;24585635;24633336;24641672;24652518;24687381;24713547;7559454;7736781;7929439;8126087;8621427;8946838;9256359;9398617;9405464;9435229;9621077;9790910;9804796;9837777;9973224 3791 P35968;Q59EB0 AB209901;ABBA01003408;AC021220;AC111194;AF035121;AF063658;AK293668;AMYH02009240;BC131822;BP280621;CH471057;EU826563;FJ899739;L04947;NG_012004;NM_002253;X61656;X89776 AAA59459;AAB88005;AAC16450;AAI31823;ACF47599;ACR78514;BAD93138;BAG57114;CAA43837;CAA61916;EAX05462;EAX05463;EAX05464;NP_002244;P35968 Hs.479756 1645710;1745617;1745619;2113766;2127359;2151785;2173664;2173666;5114079 A005U41;G20520;GDB:626090;GDB:626093;KDR;RH70435;SHGC-50925;SHGC-59221;SHGC-59525 CD309;FLK1;VEGFR;VEGFR2 OTTHUMP00000158928;fetal liver kinase 1;fetal liver kinase-1;protein-tyrosine kinase receptor Flk-1;soluble VEGFR2;tyrosine kinase growth factor receptor;vascular endothelial growth factor receptor 2 APPROVED protein-coding ENSG00000128052 HGNC:6307 01867 191306;602089 REVIEWED 5688627 KHDC1P1 KH homology domain containing 1 pseudogene 1 6 6 6 q13 74311983 74312939 - 73918806 73919799 - 73209083 73210076 - 17913455 653194 ABBA01040303;AL365232;AMYH02013904 1800436;1803026;1826286;1827086;1839750;1922210;1922212;1922214;1922216;1922218;1922220;1922222;1922224;1922226;1922228;1922230;1922232;1922234;1922236;1922238;1922240;1922242;1922244;1922498;2207008;2207010;2207012 ECD01078;ECD02404;ECD14255;ECD14658;ECD21058;REN31928;REN31929;REN31930;REN31931;REN31932;REN31933;REN31934;REN31935;REN31936;REN31937;REN31938;REN31939;REN31940;REN31941;REN31942;REN31943;REN31944;REN31945;REN32072;stSG625729;stSG625730;stSG625731 pseudo HGNC:43757 MODEL 1314078 KERA keratocan The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010] 12 12 12 q22 91115429 91123289 - 91444268 91452131 - 91050491 91058354 - 1600335;1600400;1580863;6480464;7240710;8554872;8699517 10802664;11683372 10416788;10565548;10828599;10899581;11726611;12477932;15370545;15489334;16157807;16335952;16760896;17011957;17558846;17679937;18620607;19834535;20357198;20360993;20467438;23284291;24376456;7601455;8889548 11081 O60938 ABBA01053409;AC078873;AF063301;AF065988;AF205403;AK314990;AMYH02026915;BC032667;BM722433;CH471054;CV571245;NG_021223;NM_007035 AAC16390;AAC17741;AAF69126;AAH32667;ABM81817;ABM84972;BAG37486;EAW97448;NP_008966;O60938 Hs.125750 1676184;1753483;2176364 D12S1441;RH93820;SHGC-107417 CNA2;KTN;SLRR2B OTTHUMP00000242888;keratan sulfate proteoglycan keratocan APPROVED protein-coding ENSG00000139330 HGNC:6309 04477 217300;603288 REVIEWED 1606385 KGFLP1 fibroblast growth factor 7 pseudogene INTERACTS WITH 17beta-estradiol; afimoxifene; levonorgestrel 9 9 p11.2 46687557 46746820 + 62376256 62435519 + 6480464 12477932;14702039;15146197;15809711 387628 Q8NFD4 AF523265;AK054997;AK307215;AL590399;AMYH02020224;AMYH02020225;AMYH02020226;AMYH02020750;AY098593;BC101842;BC112977;BC112978;CN274734;DB501751;NR_003674;NR_047527 AAM34503;AAM82158;Q8NFD4 Hs.439341;Hs.732660 5021494;5092304 G15911;SHGC-84206 MGC125746;MGC125747;MGC126891 APPROVED pseudo ENSG00000227449 13402 VALIDATED 1348536 KHDC1 KH homology domain containing 1 ENCODES a protein that exhibits RNA binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 6 6 6 q13 74344289 74366140 - 73951037 74019938 - 73241314 73310215 - 6480464 12477932;14702039;16341674;17913455;8889548 80759 A6PVU5;Q4VXA5 ABBA01040304;ABBA01040305;ABBA01040306;ABBA01040307;ABBA01040308;ABBA01040309;ABBA01040310;ABBA01040311;AC019205;AI493466;AK090984;AL365232;AMYH02013904;AMYH02013905;AMYH02013906;BC022080;BM725230;BM747426;CH471051;DA059235;DB473653;DB477180;NM_001251874;NM_030568;NR_027005 AAH22080;EAW48776;EAW48777;EAW48778;EAW48779;EAW48780;NP_001238803;NP_085045;Q4VXA5 Hs.433062;Hs.732094 1653754;1680547;1802462;1805346;1807054;1807858;1807860;1813132;1820630;1823156;1824910;1825942;1830366;1830368;1831136;1831394;1833832;1834320;1834582;1834798;1836652;1842158;1843490;1843556;1844176;1844984;1845322;1922292;1922486;1922488;1922490;1922492;1922494;1922496;1922498;1922500;1922502;1922504;1922506;1922508;1922510;1922512;1922514;1922516;1922518;1922520;1922522;1922524;1922526;1922528;1922530;1922532;1922534;1922536;1922538;1922540;1922542;1922544;1922546;1922548;1922550;1922552;1922554;1922556;1922558;1922560;1922562;1922564;1922566;1922568;1922570;1922572;1922574;1922576;1922578;1922580;1922582;1922584;1922586;1922588;1922590;1922592;1922594;1922596;1922598;1922600;1922602;1922604;1922606;1922608;1922610;1922612;1922614;1922616;1922618;1922620;1922622;1922624;1922626;1922628;1922630;1922632;1922634;1922636;1922638;1922640;1922642;1922644;1922646;1922648;1922650;1922652;1922654;1922656;1922658;1922660;1922662;1922664;1922666;1922668;1922670;1922672;1922674;1922676;1922708;1923014;1923016;2127315;2207062;2207064;2207066;2207068;2207070;2207072;2207074;2207076;2207078;2207080;2207082;2207084;2207086;2207088;2207090;2207092;2207094;2207096 ECD02117;ECD03620;ECD04492;ECD04904;ECD04905;ECD07585;ECD11390;ECD12666;ECD13554;ECD14080;ECD16317;ECD16318;ECD16704;ECD16833;ECD18062;ECD18308;ECD18439;ECD18547;ECD19490;ECD22282;ECD22954;ECD22987;ECD23301;ECD23708;ECD23878;REN31969;REN32066;REN32067;REN32068;REN32069;REN32070;REN32071;REN32072;REN32073;REN32074;REN32075;REN32076;REN32077;REN32078;REN32079;REN32080;REN32081;REN32082;REN32083;REN32084;REN32085;REN32086;REN32087;REN32088;REN32089;REN32090;REN32091;REN32092;REN32093;REN32094;REN32095;REN32096;REN32097;REN32098;REN32099;REN32100;REN32101;REN32102;REN32103;REN32104;REN32105;REN32106;REN32107;REN32108;REN32109;REN32110;REN32111;REN32112;REN32113;REN32114;REN32115;REN32116;REN32117;REN32118;REN32119;REN32120;REN32121;REN32122;REN32123;REN32124;REN32125;REN32126;REN32127;REN32128;REN32129;REN32130;REN32131;REN32132;REN32133;REN32134;REN32135;REN32136;REN32137;REN32138;REN32139;REN32140;REN32141;REN32142;REN32143;REN32144;REN32145;REN32146;REN32147;REN32148;REN32149;REN32150;REN32151;REN32152;REN32153;REN32154;REN32155;REN32156;REN32157;REN32158;REN32159;REN32160;REN32161;REN32178;REN32331;REN32332;RH12703;RH37411;RH76458;stSG625756;stSG625757;stSG625758;stSG625759;stSG625760;stSG625761;stSG625762;stSG625763;stSG625764;stSG625765;stSG625766;stSG625767;stSG625768;stSG625769;stSG625770;stSG625771;stSG625772;stSG625773 C6orf147;C6orf148;Em:AC019205.8;MGC10818;NDG1;bA257K9.4 KH homology domain-containing protein 1;OTTHUMP00000016734;OTTHUMP00000196140 protein-coding ENSG00000135314 HGNC:21366 10790 611688 VALIDATED 734416 KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1 This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 1 1 1 p32 30749379 30779362 + 32479295 32526460 + 32013694 32060859 + 1580863;6480464 10332027;10371501;10437794;10467411;10564280;10564820;10635328;10748127;10749975;10805734;10820259;10913193;10951562;10962565;11118435;11254726;11278465;11437596;11483766;11585385;11604231;11604498;11932418;11960376;12029088;12112020;12134041;12163161;12370808;12370810;12477932;12478298;12482964;12496368;12529443;1374686;1385407;14647465;14702039;15021911;15146197;15190072;15231748;1545818;15489334;15619005;15635413;15701759;15782174;16055720;16083285;16107303;16159877;16169070;16179349;16236470;16274251;16341228;16362077;16568089;16710414;16795043;16888650;17081983;17179751;17264152;17371836;17643375;17764653;17855053;17891136;18377426;18394557;18457437;18606683;18854154;18957126;19041431;19091369;19149558;19149559;19150430;19254361;19531213;19535902;19596686;19596784;19615357;19755649;19912651;20028857;20186122;20186123;20610388;20805487;20876280;20936779;21035519;21139048;21145461;21182205;21282530;21360055;21489997;21549307;21565971;21620750;21642356;21672929;21678403;21700735;21706016;21890473;21906983;21988832;22000517;22005517;22118674;22124844;22174317;22365833;22505724;22745667;22939629;23000965;23018781;23463506;23715268;24316008;24332808;24457600;24639526;24778252;24794312;24816145;7512694;7516469;7537265;7799925;7852312;8175658;8189062;8419471;8576157;8702753;8766817;8810341;8977179;8985255;8995379;9010224;9013542;9045636;9201297;9315091;9315629;9362449;9564850;9743338;9804166;9872323 10657 Q07666 ABBA01023443;ABBA01023444;AK091346;AK293369;AK303218;AK312916;AL139249;AL445248;AMYH02000698;AMYH02000699;AMYH02000700;BC000717;BC010132;BC019109;CA442272;CH471059;CN345570;DB365017;DC351638;M88108;NM_001271878;NM_006559;NR_073498;NR_073499;U78971 AAA59990;AAB47504;AAH00717;AAH10132;AAH19109;ABM86249;BAC03643;BAG35762;BAG56883;BAG64305;EAX07574;EAX07575;EAX07576;EAX07577;NP_001258807;NP_006550;Q07666 Hs.445893 1649293;1664653;1796224;2180904 AL009822;D1S3208;KHDRBS1_903;SHGC-74493 FLJ34027;Sam68;p62;p68 GAP-associated tyrosine phosphoprotein p62 (Sam68);KH domain-containing, RNA-binding, signal transduction-associated protein 1;OTTHUMP00000004022;OTTHUMP00000035623;p21 Ras GTPase-activating protein-associated p62;src associated in mitosis, 68 kda;src-associated in mitosis 68 kDa protein protein-coding ENSG00000121774 HGNC:18116 03926 602489 REVIEWED 1346854 KHRBP1 KH-type RNA binding protein 1 80711 HGNC:14641 1354239 KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 ENCODES a protein that exhibits poly(A) RNA binding; RNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); spermatogenesis (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cisplatin; cobalt dichloride 8 8 8 q24.2 132642482 132831891 + 136469702 136669068 + 135457459 135656500 + 1580863;6480464;8554872 10077576;10332027;10564820;10749975;11118435;11463515;11714634;11741900;12477932;12529443;12921630;15163637;15489334;15901763;16169070;16189514;16810759;17081983;17643375;18029348;18624398;18976975;19091369;19254361;19447967;19561594;19584924;20195357;21078624;21139048;21725612;21988832;22365833;23208506;23333304;23923007;24457600;24816145 10656 E5RG12;E5RHD3;E5RJZ9;H0YAQ1;H0YAQ3;H0YB45;O75525 ABBA01012694;AC040914;AC104371;AF051321;AF051322;AF069681;AMYH02018830;AMYH02018831;BC032606;BC068536;CH471060;NM_006558;XM_005250757;XM_005250758;XR_242372;XR_242374 AAC24857;AAC99294;AAC99295;AAH32606;AAH68536;ABM81812;ABM84967;EAW92182;NP_006549;O75525;XP_005250814;XP_005250815 Hs.444558 1671205;1704658;1747119;1750903;1781276;2154068;2166352 D8S2049;G64006;G64208;SGC30203;SHGC-104658;SHGC-77960;WI-16773 Etle;SALP;SLM-2;SLM2;T-STAR;TSTAR KH domain-containing, RNA-binding, signal transduction-associated protein 3;OTTHUMP00000226029;OTTHUMP00000226038;RNA-binding protein T-Star;Sam68-like phosphotyrosine protein, T-STAR;etoile;sam68-like mammalian protein 2 protein-coding ENSG00000131773 HGNC:18117 10007 610421 PROVISIONAL 69145 KHK ketohexokinase (fructokinase) This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 27155955 27169965 + 27309611 27323619 + 27086743 27100751 + 1580863;1300048;2302253;6480464;6907045;7240710;8554872 6088170 11076863;11256614;12477932;12941785;15489334;15489336;16344560;16372272;16381901;17353931;18029348;19056867;19158351;19237742;19913121;20628086;21139048;21145461;21890473;23112875;23341889;2996495;7833921;8125298;8662230;8889548;9799106 3795 C9JDL1;P50053 AB209518;ABBA01045192;ABBA01045193;AC013403;AJ005168;AK130033;AK223075;AMYH02003471;BC006233;BM681082;BX648873;CH471053;CR456801;DA068313;NG_012199;NM_000221;NM_006488;X78677;X78678;XM_005264294;XM_005264296;XM_005264298;XM_006712008;XM_006712009;XM_006712010;XM_006712011;XM_006712012;XM_006712013;XM_006712014;Y09336;Y09340;Y09341 AAH06233;AAX93167;BAD92755;BAD96795;CAA06409;CAA55346;CAA55347;CAA70516;CAA70521;CAA70522;CAA70523;CAG33082;CAL38164;EAX00640;EAX00641;EAX00642;EAX00643;NP_000212;NP_006479;P50053;XP_005264351;XP_005264353;XP_005264355;XP_006712071;XP_006712072;XP_006712073;XP_006712074;XP_006712075;XP_006712076;XP_006712077 Hs.567297 1651754;1656643;1855424;2132891;2132893;2142354;2152542;5015881 A001Z30;D2S2614;G19822;GDB:335751;RH70916;SHGC-12022;STS-Z41432;WI-15611 OTTHUMP00000122595;OTTHUMP00000122596;OTTHUMP00000200951;hepatic fructokinase;ketohexokinase APPROVED protein-coding ENSG00000138030 HGNC:6315 11774 229800;614058 REVIEWED 1349535 KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 ENCODES a protein that exhibits poly(A) binding (inferred); poly(U) RNA binding (inferred); protein heterodimerization activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH fonofos; parathion; terbufos 6 6 6 q11.1 60547513 61153711 - 62389865 62996100 - 61630434 62286195 - 1580863;6480464;8554872 10077576;12477932;12529443;12549823;14702039;15345239;16189514;17207965;17643375;18029348;18464913;19091369;19254361;19282290;21890473;21906983;22505724;23000965;23503679;24816145 202559 Q5VWX1 ABBA01039500;ABBA01039501;ABBA01039502;ABBA01039503;ABBA01039504;ABBA01039505;AK095983;AK292043;AL049544;AL133459;AL138882;AL161440;AL355347;AL360220;AL391644;AL590202;AMYH02013802;AMYH02013803;AMYH02013804;AMYH02013805;AMYH02013806;AMYH02013807;AMYH02013808;AMYH02013809;AY077838;BC034043;BI597067;CH471143;D60325;KF458179;LN608117;NM_152688;XM_006715354;XM_006715355;XR_427965;Z93021 AAH34043;AAL77219;ADQ32350;BAF84732;BAG53185;EAW88489;EAW88490;EAW88491;NP_689901;Q5VWX1;XP_006715417;XP_006715418 Hs.519794 1337013;1337972;1339527;1717887;1722495;1750143;1750799;1757137;2138279;5022651;7186181 D11S2921;D6S1710;D6S1711;D6S402;G17080;G60171;RH122775;SHGC-103669;SHGC-112256;SHGC-144572 FLJ38664;MGC26664;RP1-240B8.3;SLM-1;SLM1;bA535F17.1;hSLM-1 KH domain-containing, RNA-binding, signal transduction-associated protein 2;OTTHUMP00000016670;Sam68-like mammalian protein 1 protein-coding ENSG00000112232 HGNC:18114 13775 610487 VALIDATED 3340258 KHDC1L KH homology domain containing 1-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper atom; copper(0); valproic acid 6 6 6 q13 74326519 74328427 - 73933267 73935175 - 73223544 73225452 - 6480464;8554872 12477932;14702039 100129128 F5H697;Q5JSQ8 ABBA01040303;AL365232;AMYH02013904;BC004267;NM_001126063 NP_001119535;Q5JSQ8 Hs.663639 1803026;1806910;1807858;1842154;1922210;1922334;1922336;1922338;1922340;1922342;1922344;1922346;1922348;1922350;1922352;1922354;1922356;1922358;1922360;1922362;1922364;1922366;2207034;2207036 ECD02404;ECD04420;ECD04904;ECD22280;REN31928;REN31990;REN31991;REN31992;REN31993;REN31994;REN31995;REN31996;REN31997;REN31998;REN31999;REN32000;REN32001;REN32002;REN32003;REN32004;REN32005;REN32006;stSG625742;stSG625743 OTTHUMP00000163305;RP11-257K9.7;putative KHDC1-like protein protein-coding ENSG00000256980 HGNC:37274 VALIDATED 1604735 KHDC3L KH domain containing 3-like, subcortical maternal complex member The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011] 6 6 6 q13 74466955 74468453 + 74072400 74073898 + 73362671 73364175 + 8699517;7240710;8554872 12477932;12787504;17913455;21885028;22909446;23125094;23232697;23515668;23963444;24105752;24215781 154288 Q587J8 AB211062;ABBA01040314;AC019205;AI638315;AMYH02013907;BC132844;BC137160;CH471051;NG_031942;NM_001017361;XM_006715351 AAI32845;AAI37161;ADR83511;BAD95489;EAW48773;NP_001017361;Q587J8;XP_006715414 Hs.128326 1697602;1802932;1804220;1844654;1923396;1923398;1923400;1923402;1923404;1923406;1923408;1923410;1923412;1923414;1923416;1923418;1923420;1923422;1923424;1923426;1923428;1923430;2207224;2207226;2207228 ECD02356;ECD03032;ECD23541;REN32522;REN32523;REN32524;REN32525;REN32526;REN32527;REN32528;REN32529;REN32530;REN32531;REN32532;REN32533;REN32534;REN32535;REN32536;REN32537;REN32538;REN32539;RH102312;stSG625840;stSG625841;stSG625842 C6orf221;ECAT1;HYDM2 ES cell associated transcript 1;ES cell-associated transcript 1 protein;KHDC3-like protein;OTTHUMP00000196139 APPROVED protein-coding ENSG00000203908 HGNC:33699 18560 611687;614293 REVIEWED 1316201 KHNYN KH and NYN domain containing This gene encodes a protein containing a ribonuclease NYN domain. The function of this protein has yet to be determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 14 14 14 q12 4763777 4775184 + 24898882 24910548 + 24429735 24441342 + 6480464 12477932;15489334;16344560;16712791;17081983;17114934;19561090;20686565;20800603;21139048;21890473;21906983;21963094;24816145;9205841 23351 A8K6L5;G3V331;G3V3G3;O15037 AA493312;AB002321;ABBA01061345;AK291680;AL132800;AMYH02028880;BC015780;BC042554;BM464048;BX161465;CB115247;CH471078;DA674601;NG_034018;NM_001290256;NM_001290257;NM_015299;XM_005267473;XM_005267474;XM_005267476 AAH15780;AAH42554;BAA20781;BAF84369;CAD61924;EAW66013;EAW66014;EAW66015;NP_001277185;NP_001277186;NP_056114;O15037;XP_005267530;XP_005267531;XP_005267533 Hs.713590 1647214;1672218;1674270;2157220;5124711 A002H45;HSCZSG032;RH48917;RH76482;WI-15548 KIAA0323 KH and NYN domain-containing protein;OTTHUMP00000245797;OTTHUMP00000245798;OTTHUMP00000245799 APPROVED protein-coding ENSG00000100441 HGNC:20166 11076 VALIDATED 1605423 KIAA0100 KIAA0100 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; coumestrol 17 17 17 q11.2 23800485 23831200 - 26941458 26972177 - 28614440 28645159 - 6480464;8554872 12477932;14702039;15489334;16289875;16344560;18549609;21139048;21697133;21906983;21963094;24250222;7788527 9703 J3QLM5;K7EMT1;K7EQ86;K7EQR3;Q08E86;Q14667 AB621823;ABBA01015051;ABBA01015052;AC005726;AK130007;AK307216;AMYH02033224;AMYH02033225;AW161205;AY943906;BC008591;BC048096;BC050440;BC103726;BC120873;BM999622;CH471159;CN482281;CR933634;D43947;DB152098;NM_014680;XM_005258073;XM_006722198;XR_429933 AAH08591;AAH48096;AAI03727;AAI20874;AAY19515;BAA07891;BAC85274;BAK64158;CAI45940;EAW51112;EAW51113;EAW51114;EAW51115;NP_055495;Q14667;XP_005258130;XP_006722261 Hs.151761 1667701;1678601;1683150;1734434;1736646;1847515;2123029 D17S1405E;D17S1484E;G19761;RH10564;RH25327;SHGC-12628;SHGC-31911 BCOX;BCOX1;CT101;DKFZp686M0843;MGC111488;MGC134981 OTTHUMP00000233595;U937-associated antigen;UPF0378 protein KIAA0100;antigen MLAA-22;breast cancer overexpressed gene 1;breast cancer-overexpressed gene 1 protein;cancer/testis antigen 101;hypothetical protein LOC9703 protein-coding ENSG00000007202 HGNC:28960 11064 610664 VALIDATED 1353661 KIAA0101 KIAA0101 ENCODES a protein that exhibits chromatin binding; INVOLVED IN cellular response to DNA damage stimulus; centrosome organization; DNA replication; FOUND IN cytoplasm; nucleus; perinuclear region of cytoplasm; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 15 15 15 q22.31 41535211 41551717 - 64657193 64679914 - 64364994 64387687 - 1580863;6480464 11313979;12477932;15334068;15489334;15789362;16288740;16646990;17207965;17213182;17875765;18068894;18727915;18781797;19219066;20118010;20639865;20972266;21070969;21139048;21263028;21628590;21673012;21689861;21890473;21906983;21963094;22053931;22096502;22505724;22576474;22863883;22939629;23000965;23157749;23209346;23240630;23593430;23698777;24055345;24145239;24197986;24654937;24816145;24958773;7788527 9768 H0YKX3;H0YMA4;Q15004 ABBA01038890;ABBA01038891;AC087632;AF529370;AK290748;AMYH02030602;AMYH02030603;AMYH02030604;AV757440;AY598324;BC005832;BC007101;BC016782;BF691807;BG502841;CH471082;D14657;DT220867;JN245882;JN245883;JN245884;JN245885;JN245886;JN245889;JN245890;JN245892;JN245893;JN245894;JN245895;JN245896;JN245897;JN245898;JN245899;JN245900;JN245901;JN245902;JN245903;JN245904;JN245906;JN245907;JN245908;JN245910;JN245911;JN245912;JN245936;JN245937;JN245938;JN245939;JN245940;JN245941;JN245942;JN245943;JN245944;JN245945;NM_001029989;NM_014736;NR_109934 AAH05832;AAH07101;AAH16782;AAQ09604;AAT06735;ADQ32391;AEW89488;AEW89489;AEW89490;AEW89491;AEW89492;AEW89495;AEW89496;AEW89498;AEW89499;AEW89500;AEW89501;AEW89502;AEW89503;AEW89504;AEW89505;AEW89506;AEW89507;AEW89508;AEW89509;AEW89510;AEW89512;AEW89513;AEW89514;AEW89516;AEW89517;AEW89518;AEW89560;AEW89561;AEW89562;AEW89563;AEW89564;AEW89565;AEW89566;AEW89567;AEW89568;AEW89569;BAA03491;BAF83437;EAW77679;EAW77680;EAW77681;NP_001025160;NP_055551;Q15004 Hs.81892 1673183;2114649;2178465;2182070;5014051;5037552 D8S2278;D8S2279;RH17375;RH25328;SHGC-12485;STS-T77881 FLJ58702;L5;NS5ATP9;OEATC-1;OEATC1;PAF;PAF15;p15(PAF);p15/PAF;p15PAF HCV NS5A-transactivated protein 9;OEATC;OTTHUMP00000163974;PCNA-associated factor;PCNA-associated factor of 15 kDa;hepatitis C virus NS5A-transactivated protein 9;overexpressed in anaplastic thyroid carcinoma 1 protein-coding HGNC:28961 13778 610696 VALIDATED 2292468 KIAA0087 KIAA0087 INTERACTS WITH arsenous acid; diarsenic trioxide 7 7 7 p15.2 26561715 26567415 - 26572740 26578444 - 26533121 26538825 - 6480464 11181995;12477932;12690205;16169070;16344560;7788527;9847074 9808 Q14695 ABBA01056750;AC004947;AMYH02015399;BC128257;CH236948;CH471073;D42038;DB147006;NR_022006 AAQ96877;BAA07639;EAL24233;EAW93856;Q14695 Hs.69749 1655182;1682313;1699018;1770417;1789268;1848484;2184687;5022578;5037552 D1S1423;D8S2279;G10725;G65632;GDB:1317142;RH103081;RH17443;RH25315;SGC35318 ncrna HGNC:22191 PREDICTED 2290033 KIAA0040 KIAA0040 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; 5-fluorouracil 1 1 1 q24-q25 148236421 148272507 - 175126123 175162229 - 175156987 175193093 - 6480464;8554872 12477932;15489334;16344560;16710414;18757439;21703634;21956439;24829844;7584026;7584028 9674 J3QR46;Q15053 ABBA01027873;AK292691;AL008626;AL049799;AL049800;AMYH02002182;AMYH02002183;AMYH02002184;BC020789;BC032361;BC050374;BC111699;CH471067;D25539;DA185535;DA337166;DA852435;DB232064;NM_001162893;NM_001162894;NM_001162895;NM_014656;XM_005245628;Z99715 ABZ92279;BAA05022;BAF85380;CAB42560;CAB42561;EAW90987;EAW90988;EAW90989;EAW90990;EAW90991;NP_001156365;NP_001156366;NP_001156367;NP_055471;Q15053;XP_005245685 Hs.518138 1683034;1768646;2164370 D1S2394;RH25277;SHGC-75890 FLJ75822;MGC133301 hypothetical protein LOC9674;uncharacterized protein KIAA0040 protein-coding ENSG00000235750 HGNC:28950 13776 VALIDATED 1353765 KIAA0141 KIAA0141 INVOLVED IN extrinsic apoptotic signaling pathway via death domain receptors; regulation of cysteine-type endopeptidase activity involved in apoptotic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion; INTERACTS WITH (+)-catechin; atrazine; copper atom 5 5 5 q31.3 137380524 137398745 + 141303350 141330027 + 141923785 141950453 + 1580863;6480464;8554872 10942595;12477932;14702039;15146197;15489334;17207965;20563667;20877624;8590280 9812 D6RBI8;H0YA48;Q14154 AA760689;ABBA01026392;ABBA01026393;AC005740;AK093504;AK292869;AMYH02012352;BC007855;BC010452;BC011269;BC011926;BC035486;CH471062;CN307416;D50931;KC877127;NM_001142603;NM_014773;XM_005268547;XM_005268548;XM_005268549;XM_005268550;XM_005268551;XM_005268552;XM_006714812;XR_245861;XR_427782;XR_427783 AAH07855;AAH10452;AAH11269;AAH11926;ADQ32459;BAA09490;BAF85558;EAW61899;NP_001136075;NP_055588;Q14154;XP_005268604;XP_005268605;XP_005268606;XP_005268607;XP_005268608;XP_005268609;XP_006714875 Hs.210532 1645005;1647074;1656959;1740379;1740381;1740415;1767497;2123537;5016298 D5S2203E;D5S2205E;D5S2228E;D5S2653;RH25364;RH77999;SGC33577;WI-22005;WI-22559 DELE OTTHUMP00000160068;OTTHUMP00000222777;OTTHUMP00000222778;death ligand signal enhancer;hypothetical protein LOC9812;uncharacterized protein KIAA0141, mitochondrial protein-coding ENSG00000081791 HGNC:28969 13780 615741 VALIDATED 4889219 KHSRPP1 KH-type splicing regulatory protein pseudogene 1 9 9 9 p21.3 21633491 21638376 + 21695173 21700072 + 21695174 21700073 + 402359 ABBA01065176;AL355679;AL359922;AMYH02019289;NG_006557 2174706 WI-21930 pseudo HGNC:39198 INFERRED 1346014 KIAA0125 KIAA0125 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid 14 14 14 q32.33 86314640 86329299 + 106355985 106398502 + 105917979 105932642 + 6480464;8554872 11042152;11181995;12477932;14702039;3138112;8590280 9834 Q05DB7;Q9NZY2 AB019441;ABBA01074086;AC246787;AF150199;AF161538;AK125627;AW451894;BC016766;BC030286;BC152473;CH471061;D50915;NG_001019;NR_026800;X97051 AAF29025;AAH16766;AAH30286;BAA09474;EAW81952;EAW81953;EAW81954;EAW81955;EAW81976;Q9NZY2 Hs.649259 1777747 RH25348 C14orf110;FAM30A;HSPC053;MGC176731;MGC22719;MGC39943 ncrna HGNC:19955 13779 VALIDATED 1346672 KHSRP KH-type splicing regulatory protein The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010] 19 19 19 p13.3 6351903 6363609 - 6413115 6424822 - 6413104 6424811 - 6480464 10087204;10781591;10911989;11003644;11719186;12477932;14657238;15161980;15175153;15514971;15606899;15851029;1602151;16055720;16648466;16964243;17081983;17177604;17353931;17474147;17549794;17550899;17643375;17908789;18029348;18583400;19003864;19198587;19322201;19458619;19585652;19738201;19775426;19946888;20020773;20332102;20639884;21139048;21145461;21196264;21319273;21627028;21705779;21795706;21890473;21900206;21906983;21935400;21935887;21963094;21987572;22053931;22079093;22118674;22505724;22586326;22623428;22751105;22863883;22939629;23000965;23125841;23142982;23246001;23345520;23463506;23524258;23537643;23874603;24023901;24457600;24550385;24583282;24639526;24816145;8889548;8940189;9136930;9858532 8570 M0QXW7;M0QYG1;M0QYH3;M0R0C6;M0R0I5;M0R251;M0R263;M0R3J3;Q92945 AA976482;AB209662;ABBA01055958;ABBA01055959;AC011491;AC011539;AF093747;AF093748;AK300957;AMYH02035351;BC009473;BC085004;BQ186683;CB216491;CF123311;CH471139;DC388502;NM_003685;U69126;U94832;XM_005259668 AAB53222;AAC50892;AAD29861;AAD29862;AAH85004;BAD92899;BAG62585;EAW69095;EAW69096;EAW69097;NP_003676;Q92945;XP_005259725 Hs.727344 1796226;2150672;2181610;2184552 KHSRP__1186;RH15912;STS-N21621;STS-N79751 FBP2;FUBP2;KSRP;MGC99676;p75 FUSE binding protein 2;FUSE-binding protein 2;KH type-splicing regulatory protein;far upstream element-binding protein 2 APPROVED protein-coding ENSG00000088247 HGNC:6316 10350 603445 VALIDATED 1312654 KIAA0226L KIAA0226-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; all-trans-retinoic acid 13 13 13 q14.13 27971122 28016591 - 46916136 46964177 - 46342000 46390042 - 6480464;8554872 12477932;12766061;14702039;15057823;15489334;16344560;18649358;18987618;19843677;20562859;21796628;23522960;8889548 80183 A8XR14;B7Z6E4;B7ZBN5;E7EMA2;Q5W050;Q9H714 ABBA01050986;AK025215;AK093073;AK125750;AK125950;AK293034;AK300183;AK307854;AK310264;AL139801;AMYH02027985;BC004495;BC021097;BC032311;BC043488;BG054617;BM682058;BX401854;BX641126;CD679213;CH471075;DB050136;DB151884;DB152553;DC330997;NM_001286761;NM_001286762;NM_001286763;NM_001286764;NM_001286765;NM_001286766;NM_025113 AAH04495;AAH43488;BAB15086;BAC86358;BAF85723;BAG52649;BAH13230;EAX08762;EAX08763;EAX08764;NP_001273690;NP_001273691;NP_001273692;NP_001273693;NP_001273694;NP_001273695;NP_079389;Q9H714 Hs.98117 1662929;1680587;1693644;2111524 D13S1499;RH44948;RH98403;SHGC-58563 C13orf18;FLJ21562;FLJ43762 OTTHUMP00000018366;OTTHUMP00000018368;OTTHUMP00000198242;OTTHUMP00000205782;hypothetical protein LOC80183;uncharacterized protein KIAA0226-like APPROVED protein-coding ENSG00000102445 HGNC:20420 12615 VALIDATED 1602497 KIAA0232 KIAA0232 ENCODES a protein that exhibits ATP binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 4 4 4 p16.1 6708296 6787947 + 6784459 6885899 + 6782732 6884172 + 6480464;8554872 12168954;12477932;14702039;15174051;16169070;16344560;17081983;20936779;22139419;23602568;24026423;9039502 9778 A5YKK5;D6REK0;Q92628 ABBA01012729;ABBA01012730;ABBA01012731;AC106045;AF143884;AK124715;AMYH02008674;AMYH02008675;BC150286;BU618566;CH471131;CR457160;D86985;DA137144;DA652967;EF553521;NM_001100590;NM_014743;XM_005248041;XM_006713934;XM_006713935 AAD32701;AAI50287;ABQ66267;BAA13221;CAG33441;EAW82378;NP_001094060;NP_055558;Q92628;XP_005248098;XP_006713997;XP_006713998 Hs.79276 1335860;1779188;1849170;2156276;2158461;2163195;2164033;2171982;2180381 AFM292ya5;D4S1239;D4S2531E;D4S3007;SHGC-30532;SHGC-50915;SHGC-59523;SHGC-67386;SHGC-67847 OTTHUMP00000217448;hypothetical protein LOC9778;uncharacterized protein KIAA0232 protein-coding ENSG00000170871 HGNC:28992 11070 VALIDATED 1318702 KIAA0020 KIAA0020 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN endoplasmic reticulum; nucleolus; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; copper(2+) sulfate 9 9 9 p24.2 2722408 2762387 - 2804152 2844130 - 2804152 2844130 - 1580863;6480464 10942595;11148223;11790298;12135428;12429849;12477932;15164053;15489334;15635413;15840729;16169070;16344560;17558408;18029348;18093280;19454010;19471022;19596686;20353833;21139048;21145461;21266351;22178446;22586326;23251661;23480177;23720494;24058526;24457600;24816145;7584026;7584028;8125298 9933 Q15397;S4R3K8 ABBA01065436;AF490254;AK225953;AK292169;AK315531;AL354723;AL589675;AL832239;AL832245;AMYH02019053;AMYH02019054;AMYH02019055;AY047588;AY047589;AY047590;BC016137;CH471071;CR456957;D13645;DA358022;NM_014878 AAH16137;AAL06072;AAL06073;AAL06074;AAO85462;BAA02808;BAF84858;BAG37911;CAG33238;EAW58802;NP_055693;Q15397 Hs.493309 1645758;1724993;1847302;2180937;5125360 D9S1136;D9S1951;RH118792;RH17371;WI-11706 HA-8;HLA-HA8;MGC8749;PEN;PUF6;RP11-526D20.2;XTP5;hPUF-A HBV X-transactivated gene 5 protein;HBV XAg-transactivated protein 5;OTTHUMP00000020987;minor histocompatibility antigen HA-8;penguin homolog;protein 5 transactivated by hepatitis B virus X antigen (HBxAg);pumilio domain-containing protein KIAA0020 protein-coding ENSG00000080608 HGNC:29676 08822 609960 VALIDATED 1605409 KIAA0195 KIAA0195 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH disodium selenite 17 17 17 q25.1 70046681 70090404 + 73452664 73496533 + 75456583 75500452 + 6480464;8554872 12477932;14702039;15146197;15489334;16344560;20379614;21139048;21890473;23455922;23602568;8619474;8724849;9110174 9772 C9JL75;J3KRN3;J3KRU7;J3KS76;J3KT63;J3KTL5;J3QLC5;J3QLM7;J3QQW3;J3QRT3;J3QRT7;J3QRY7;J3QS17;J3QS24;J3QSG7;Q12767 ABBA01028788;ABBA01028789;ABBA01028790;ABBA01028791;ABBA01028792;ABBA01028793;ABBA01028794;AC100787;AF070545;AK094864;AK128508;AK294526;AK304819;AK308160;AK316060;AMYH02033995;AMYH02033996;AMYH02033997;AMYH02033998;AMYH02033999;BC042942;BC045540;CH471099;CN307648;CR936809;D83779;DA193442;DB545285;H06743;KF456321;NM_014738;XM_005257863;XM_005257864;XM_005257865;XM_005257866;XM_005257867;XM_005257868;XM_006722200 AAC28636;AAH45540;BAA12108;BAG57737;BAG65567;BAH14431;EAW89274;EAW89275;EAW89276;EAW89277;NP_055553;Q12767;XP_005257920;XP_005257921;XP_005257922;XP_005257923;XP_005257924;XP_005257925;XP_006722263 Hs.514474 1686118;1758679;1761815;2153425 RH25408;RH71445;SHGC-145769;SHGC-149140 DKFZp781M1056;FLJ37545;TMEM94 hypothetical protein LOC9772;transmembrane protein 94;uncharacterized protein KIAA0195 protein-coding ENSG00000177728 HGNC:28983 11068 VALIDATED 1353596 KIAA0226 KIAA0226 The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014] 3 3 3 q29 196014953 196093675 - 197398259 197476568 - 197671388 197749845 - 737633;4889529;6480464;8699517;7240710;8554872 12477932;20034776 11181995;15146197;15231748;16344560;16641997;19270693;19270696;19550146;19608861;20379614;20562859;20826435;20943950;20974968;21062745;21241894;22423966;22423967;22527681;23728897;24250222;24980960;9039502 9711 E9PEM3;H0Y6E6;H7C357;H7C3H3;Q8N4U6;Q92622 ABBA01007566;ABBA01007567;ABBA01007568;ABBA01007569;ABBA01007570;AC024560;AI796534;AK295625;AMYH02008521;AMYH02008522;AMYH02008523;BC014173;BC033615;BU501990;BX647598;CH471252;CN288121;D86979;DA007321;DB036516;DB075342;HY003277;NG_034153;NM_001145642;NM_014687;XM_005269374;XM_006713827;XM_006713828;XM_006713829;XM_006713830;XM_006713831 AAH14173;AAH33615;AAI60011;BAA13215;BAG58502;CAI46107;EAW92238;EAW92239;NP_001139114;NP_055502;Q92622;XP_005269431;XP_006713890;XP_006713891;XP_006713892;XP_006713893;XP_006713894 Hs.478868 1652456;1680327;1767115;2132347;2145051;2162388;5015961;5020948;5022578;5109281 D15S1477;D1S1423;D1S1425;G35510;L17937;RH66168;RH99161;SGC34513;SHGC-77701;SHGC-77703 SCAR15 OTTHUMP00000208021;OTTHUMP00000208023;OTTHUMP00000208024;OTTHUMP00000208026;RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein;RUN domain protein as Beclin 1-interacting and cysteine-rich containing;baron;beclin-1 associated RUN domain containing protein;rubicon;run domain Beclin-1 interacting and cystein-rich containing protein;run domain Beclin-1 interacting and cysteine-rich containing protein;rundataxin protein-coding ENSG00000145016 HGNC:28991 613516;615705 REVIEWED 1318189 KIAA0355 KIAA0355 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A 19 19 19 q13.11 31447207 31548203 + 34745456 34846471 + 34254551 34355566 + 6480464;8554872 10737800;11337467;12477932;20215924;20379614;24250222;24255178;9205841 9710 K7EPA0;O15063;U3KPV0;U3KQ15 AB002353;ABBA01004331;ABBA01004332;ABBA01004333;ABBA01004334;ABBA01004335;AC010504;AC010614;AC016627;AC092080;AK311350;AMYH02035951;AMYH02035952;AMYH02035953;AMYH02035954;AMYH02035955;AMYH02035956;AMYH02035957;AU100313;BC017790;BC104761;BC104763;BC128232;BF760219;NM_014686;XM_005259444 AAI04762;AAI04764;AAI28233;BAA20812;NP_055501;O15063;XP_005259501 Hs.330073 1689456;1857560;2028988;5022651 D11S2921;REN85498;RH16002;STS-H96891 hypothetical protein LOC9710;uncharacterized protein KIAA0355 protein-coding ENSG00000166398 HGNC:29016 11077 VALIDATED 1322760 KIAA0367 KIAA0367 q21.13 737633 12477932 12168954;15164053;15489334;16288218;17081983;9205841 23273 Q58A63;Q5JUB9;Q5T473;Q5T474;Q5T475 AB002365;AB050197;AL161626;AL359314;AL834213;AY439213;AY439214;BC022571;CH471089;NM_015225 AAH22571;AAR15150;AAR15151;BAA20822;BAD93351;CAI10912;CAI10914;CAI10915;CAI39747;CAI39749;CAI39750;CAI39752;EAW62581;EAW62582;EAW62583;EAW62584;EAW62585;EAW62586;EAW62587;EAW62588;NP_056040;Q58A63;Q5JUB9;Q5T473;Q5T474;Q5T475 Hs.262857 A214N16.3;BMCC1;BNIPXL;bA214N16.3 protein-coding HGNC:29019 13797 1348294 KIAA0319 KIAA0319 This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 6 6 6 p22.3 25777709 25879725 - 24544332 24646383 - 24544103 24646155 - 6480464;7240710;8554872 12421765;12477932;12834540;14574404;15514892;15717286;16344560;16600991;17033633;17450541;17597587;17846832;18063668;18810304;18829873;19325871;19362708;19419997;19588467;19679544;20068590;20846247;20923822;20943657;21104116;21203818;21207242;21457949;21934641;22262880;22326444;22558177;22683091;23065966;23677054;7939663;9205841;9915954 9856 Q5VV43 AB002317;ABBA01066536;ABBA01066537;ABBA01066538;AF086065;AK295008;AK296310;AK296426;AK307503;AK310289;AL031230;AL031775;AL044313;AL512385;AMYH02013327;BC140821;BC144628;BC152460;BX646625;CH471087;DA316925;DA808234;NG_016206;NM_001168374;NM_001168375;NM_001168376;NM_001168377;NM_001252328;NM_014809;XM_005249504;XM_006715286;XM_006715287;XM_006715288 AAI40822;AAI44629;AAI52461;BAA20777;BAG58068;BAG59008;BAG59087;EAW55455;EAW55456;EAW55457;NP_001161846;NP_001161847;NP_001161848;NP_001161849;NP_001239257;NP_055624;Q5VV43;XP_005249561;XP_006715349;XP_006715350;XP_006715351 Hs.26441 1336614;1338417;1671929;1716795;1767651;1789603;1792872;2114567;2124865;2125371;2133851;2158061;7188001;7191085 A004P20;D6S105;D6S2298;D6S276;D6S461;JA04;PMC166143P8;RH121692;RH45845;RH46742;STS-Z40603;WI-12499;WI-15728 DLX2;DYLX2;DYX2;MGC176717;NMIG OTTHUMP00000016089;dyslexia susceptibility 2;dyslexia-associated protein KIAA0319;neuronal migration APPROVED protein-coding ENSG00000137261 HGNC:21580 18713 600202;609269 REVIEWED 1605339 KIAA0319L KIAA0319-like This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009] 1 1 1 p34.2 34173482 34297431 - 35899091 36023037 - 35433490 35557670 - 6480464;8554872 11347906;12477932;14702039;19085271;19578796;20697954;23740937 79932 B1AN15;B4DYG9;C9J519;C9JQ56;C9JVB2;E7EN73;F8WAW2;H0Y4S8;Q8IZA0 AB058740;ABBA01023339;ABBA01023340;ABBA01023341;AC004865;AF275679;AF289597;AK024287;AK090878;AK097096;AK097107;AK126496;AK302428;AK314605;AK316252;AL356362;AL445211;AL834315;AMYH02000766;AMYH02000767;AX883831;AY163234;BC001858;BC007645;BC014530;BC031672;BX471865;CH471059;DC369564;NM_024874;XM_006710907;XM_006710908;XM_006710909;XM_006710910;XM_006710911;XR_246296 AAD05028;AAG24389;AAH01858;AAH07645;AAH14530;AAH31672;AAL55781;AAN61054;BAB14874;BAB47466;BAC03536;BAG37175;BAG63731;BAH14623;CAD38985;CAE92130;EAX07413;EAX07414;EAX07415;EAX07416;NP_079150;Q8IZA0;XP_006710970;XP_006710971;XP_006710972;XP_006710973;XP_006710974 Hs.456507;Hs.683078 1696558;1781464;2107511;2118513;2154206;2178693;5022651 D11S2921;G09494;PKD1-like__7004;SHGC-112345;SHGC-74573;SHGC-74575;SHGC-78168 FLJ44532;KIAA1837 OTTHUMP00000004589;OTTHUMP00000004590;OTTHUMP00000004591;dyslexia susceptibility 2-like;dyslexia-associated protein KIAA0319-like protein;polycystic kidney disease 1-related APPROVED protein-coding ENSG00000142687 HGNC:30071 11164 613535 REVIEWED 1345855 KIAA0408 KIAA0408 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; methylmercury chloride 6 6 6 q22.33 128501795 128522779 - 127759551 127780535 - 127438406 127459390 - 6480464;8554872 12477932;14574404;14702039;15489334;16189514;17043677;19460752;21900206;21906983;23455924;9455477 9729 E9PQS0;H0YEM8;Q6ZU52 AB007868;ABBA01025931;AK091424;AK125983;AK127114;AL096711;AL596809;AMYH02014449;BC018396;CH471051;NM_014702 AAH18396;BAA23704;BAC86375;BAG52357;EAW48095;NP_055517;Q6ZU52 Hs.319247 1643899;1653424;1774689;2118325;2121678;2147177;5021872;5022578 D1S1423;RH46655;RH47312;RH65429;SHGC-30315;SHGC-34704;STS-F04688;sY3084 FLJ43995;RP3-403A15.2 OTTHUMP00000017174;OTTHUMP00000232128;OTTHUMP00000232146;hypothetical protein LOC9729;uncharacterized protein KIAA0408 protein-coding HGNC:21636 17187 VALIDATED 1605096 KIAA0196 KIAA0196 This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009] 8 8 8 q24.13 122225172 122293224 - 126036502 126104061 - 125024260 125091819 - 6480464;7240710;8554872;8699517 12477932;12665801;14603436;15489334;16344560;17160902;19922875;20301682;20301727;20339536;20360068;20376207;20379614;20833645;20923837;21139048;21890473;21906983;21963094;22118674;22863883;22939629;23000965;23085491;23455931;23881105;24065355;24332808;24816145;8125298;8724849;9973294 9897 E5RFU6;E7EQI7;Q12768 ABBA01037908;AC009908;AC126366;AI266595;AK223628;AK291032;AK296970;AMYH02018726;AMYH02018727;AMYH02018728;BC026951;BC106015;CH471060;D83780;DA185885;NG_012636;NM_014846;XM_005251120 AAH26951;AAI06016;BAA12109;BAD97348;BAF83721;BAG59514;EAW92080;EAW92081;EAW92082;NP_055661;Q12768;XP_005251177 Hs.270043 1337130;1338323;1668810;1727043;1752093;1854107;2133943;2133945;2137667;2147245;5120977 A006G23;AFMA122XE9;D8S1483;D8S1774;D8S1804;D8S1932;G20790;G62920;RH25409;RH47109;SHGC-106032 MGC111053;RTSC;SPG8 OTTHUMP00000228149;OTTHUMP00000228150;OTTHUMP00000228151;WASH complex subunit strumpellin;strumpellin APPROVED protein-coding ENSG00000164961 HGNC:28984 13786 220210;603563;610657 REVIEWED 1605711 KIAA0430 KIAA0430 This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010] 16 16 16 p13.11 15368702 15417500 - 15688226 15737023 - 15594369 15643166 - 6480464 10493829;12477932;14702039;15146197;15489334;15616553;15932519;16344560;17081983;19322201;19389623;19946888;20811636;21906983;22442484;22505724;23090997;25015289;8889548;9455477 9665 F8VRS5;F8VVB8;G8JLP4;H0YIB6;Q9Y4F3 AB007890;AB012134;ABBA01048899;ABBA01048900;AC026401;AC243742;AK095840;AK124564;AK302667;BC041135;BC064914;BC127740;BC137165;BC137170;BC139919;BC141831;BC144514;BC144515;BU607280;BX510172;CH471226;CN310535;DB360504;NG_021407;NM_001184998;NM_001184999;NM_014647;U95740;XM_005255704;XM_005255705;XM_005255706;XM_005255707;XM_005255708;XM_005255709;XM_006720986;XM_006725215;XM_006725216;XM_006725217;XM_006725218;XM_006725219;XM_006725220;XM_006725221 AAC31662;AAH64914;AAI37166;AAI37171;AAI44515;AAI44516;BAA24860;BAB82433;BAG63901;EAW53920;EAW53921;EAW53922;EAW53923;NP_001171927;NP_001171928;NP_055462;Q9Y4F3;XP_005255761;XP_005255762;XP_005255763;XP_005255764;XP_005255765;XP_005255766;XP_006721049;XP_006725278;XP_006725279;XP_006725280;XP_006725281;XP_006725282;XP_006725283;XP_006725284 Hs.173524 1668905;1719445;2108811;2137286 LKAP_8976;RH123441;RH68839;SHGC-60737 A-362G6.1;LKAP;MARF1;PPP1R34 OTTHUMP00000160328;OTTHUMP00000240929;OTTHUMP00000240930;OTTHUMP00000240931;OTTHUMP00000240934;limkain b1;limkain-b1;meiosis arrest female 1;meiosis arrest female protein 1;protein phosphatase 1, regulatory subunit 34 APPROVED protein-coding ENSG00000166783 HGNC:29562 13992 614593 VALIDATED 1604044 KIAA0556 KIAA0556 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular space; nucleus; plasma membrane; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; benzo[a]pyrene 16 16 16 p12.1 26338803 26569056 + 27561441 27791692 + 27550120 27780371 + 6480464;8554872 12421765;12477932;14702039;18029348;19727342;24250222;9628581 23247 H3BNJ6;H3BPM2;O60303 AB011128;ABBA01017158;ABBA01017159;ABBA01017160;ABBA01017161;ABBA01017162;AC002551;AC008732;AC016597;AC025275;AC092330;AK097485;AK295261;AK315974;AMYH02031767;AMYH02031768;AMYH02031769;AMYH02031770;AMYH02031771;BC041053;BC131508;BC150276;BX472933;CH471145;KF456172;KF456175;NM_015202;XM_005255201;XM_005255202;XM_005255203;XM_005255204;XM_005255206;XM_005255207;XM_005255208;XM_006721025 AAI50277;BAA25482;BAC05073;BAG58250;BAH14345;EAW55743;NP_056017;O60303;XP_005255258;XP_005255259;XP_005255260;XP_005255261;XP_005255263;XP_005255264;XP_005255265;XP_006721088 Hs.460459 1650977;1660198;1716039;1738569;1744771;1763185;1765313;2120032;2127583 D16S2734;G09319;GDB:568459;L18090;RH120958;RH48346;SHGC-146913;SHGC-148806;SHGC-60736 hypothetical protein LOC23247;uncharacterized protein KIAA0556 protein-coding ENSG00000047578 HGNC:29068 13806 VALIDATED 1314598 KIAA0368 KIAA0368 INVOLVED IN ER-associated ubiquitin-dependent protein catabolic process; FOUND IN centrosome; cytoplasmic membrane-bounded vesicle; early endosome; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; arsenous acid 9 9 9 q31.3 84622093 84746150 - 114122973 114247025 - 111360693 111484745 - 737633;6480464 12477932 14702039;15164053;15302935;15489334;15496406;16189514;17353931;17643375;19193609;19738201;19946888;20379614;20562859;20682791;21139048;21252943;21890473;21906983;21963094;21987572;22053931;22586326;22863883;22939629;23000965;23464991;23798571;23862649;24084648;24255178;24811749;24816145;8619474;9110174;9205841 23392 F6XAQ5;J3KN16;Q5VYK3;R4GMY1;R4GMY3 AB002366;ABBA01042731;ABBA01042732;AF052139;AK024705;AK025689;AK027063;AK122712;AK124590;AK127247;AK308313;AL159168;AL354661;AMYH02021477;AMYH02021478;BC021127;NM_001080398;XM_005251850;XM_005251851;XM_005251852;XM_005251853;XM_005251854 AAH21127;AAI72431;BAA20823;BAG53684;BAG54464;NP_001073867;Q5VYK3;XP_005251907;XP_005251908;XP_005251909;XP_005251910;XP_005251911 Hs.368255 1335964;1663733;1691316;1849009;1849011;2124879;2185921;5016851;5022594;5024413 A001T21;D9S1008E;D9S105;G19627;L17877;M83638;RH11011;RH79738;RH80031;SGC31712 ECM29;FLJ22036;KIAA1962;RP11-386D8.2 ECM29 homolog, proteasome accessory protein;OTTHUMP00000021908;homolog of yeast Ecm29;proteasome-associated protein ECM29 homolog protein-coding ENSG00000136813 HGNC:29020 PROVISIONAL 1349623 KIAA0247 KIAA0247 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; biochanin A 14 14 14 q24.1 50142416 50245965 + 70078310 70181861 + 69611593 69715144 + 1580863;6480464;8554872 12477932;15489334;17207965;19322201;20236627;21139048;21619678;24250222;24652652;9039502 9766 Q92537 ABBA01030825;ABBA01030826;AK130809;AK309302;AL133445;AL355837;AMYH02029437;AMYH02029438;BC064697;CH471061;D87434;DC346928;NM_014734 AAH64697;ACE86617;ACE87298;ADQ32970;BAA13378;EAW81001;NP_055549;Q92537 Hs.440025 1659140;1669589;1769078;1777409;2157379;2163459;2163892 D14S877;G35528;G35543;G35551;G35921;G36301;SHGC-33845 OTTHUMP00000245516;hypothetical protein LOC9766;uncharacterized protein KIAA0247 protein-coding ENSG00000100647 HGNC:19956 10010 VALIDATED 1605106 KIAA0753 KIAA0753 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centrosome; cytoplasm; INTERACTS WITH aflatoxin B1; atrazine; genistein 17 17 17 p13.1 6502636 6565303 - 6481645 6545066 - 6578151 6641746 - 6480464;8554872 12477932;16344560;18029348;21890473;21906983;21963094;24255178;24613305;9872452 9851 B7Z6L6;F6SFD5;I3L0P7;I3L1P2;I3L2A7;I3L341;I3L3Y0;Q2KHM9 AB018296;ABBA01054835;ABBA01054836;AC004706;AC015916;AK292876;AK296971;AK300547;AL080108;AMYH02032876;BC017566;BC113016;BC113017;CH471108;DB075150;NM_014804;XM_005256881;XM_005256882;XM_005256884;XM_005256885;XM_006721609;XM_006721610;XM_006721611;XM_006721612;XR_429828;XR_429829;XR_429830;XR_429831 AAI13017;AAI13018;BAA34473;BAF85565;BAH12465;BAH13302;CAB45712;EAW90303;NP_055619;Q2KHM9;XP_005256938;XP_005256939;XP_005256941;XP_005256942;XP_006721672;XP_006721673;XP_006721674;XP_006721675 Hs.28070 1337050;1703172;1783472;2128796;2132181;2134315;5017238 D17S1881;RH18356;RH64650;SGC32442;SHGC-130708;SHGC-32950;WIAF-1598 MGC130040;MGC130041 hypothetical protein LOC9851;uncharacterized protein KIAA0753 protein-coding ENSG00000198920 HGNC:29110 11106 VALIDATED 1351889 KIAA0513 KIAA0513 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH calcitriol; copper(2+) sulfate; coumestrol 16 16 16 q24.1 69363621 69430043 + 85061374 85127836 + 85027751 85094230 + 737633;6480464;8554872 12477932 15489334;17010949;18029348;20379614;21832049;22959728;24250222;8619474;9110174;9628581 9764 H3BMU3;H3BNA7;O60268 AB011085;ABBA01016889;ABBA01016890;ABBA01016891;ABBA01016892;ABBA01016893;AC026469;AC092341;AF055005;AK299892;AMYH02032574;BC030280;BU844795;CH471114;NM_001286565;NM_001286566;NM_001297766;NM_014732;U79288;XM_005256265;XM_005256267 AAH30280;BAA25439;BAG61737;EAW95460;EAW95461;EAW95462;NP_001273494;NP_001273495;NP_001284695;NP_055547;O60268;XP_005256322;XP_005256324 Hs.301658 1648672;1648674;1669986;1739637;1749433;1755471;1776215;1793976;2130445;2131777;2152847;2169777;2177381;5015861;7185938 A001Y24;D10S16;D16S3001E;D16S3011;G19785;PMC310711P1;RH68498;SGC30711;SHGC-111165;SHGC-142337;SHGC-60608;SHGC-61159;SHGC-63453;SHGC-63454 hypothetical protein LOC9764;uncharacterized protein KIAA0513 protein-coding ENSG00000135709 HGNC:29058 17192 611675 VALIDATED 1312913 KIAA0391 KIAA0391 INVOLVED IN tRNA processing (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 14 14 14 q13.2 15455607 15607100 + 35591527 35743284 + 35122321 35274078 + 6480464;8554872 12477932;15342556;16344560;17114934;17213182;18984158;19624571;20953189;21139048;21890473;23755257;24763589;24816145;9205841 9692 O15091;S4R3S1;S4R3T4;S4R416 AA838769;AB002389;ABBA01061498;ABBA01061499;ABBA01061500;ABBA01061501;AI431599;AK301931;AK303508;AK304066;AL121594;AMYH02029005;AMYH02029006;BC001542;BC032221;BC044580;BP373829;BQ063741;BX161394;BX161487;CH471078;CX760644;DA459368;DC404874;DT217089;KF455861;NM_001256678;NM_001256679;NM_001256680;NM_001256681;NM_014672;XM_005268237;XM_006720334 AAH32221;AAH44580;BAA20845;BAG63351;BAG64540;BAG64973;CAD61881;CAD61937;EAW65878;EAW65879;EAW65880;EAW65881;EAW65882;EAW65883;EAW65884;NP_001243607;NP_001243608;NP_001243609;NP_001243610;NP_055487;O15091;XP_005268294;XP_006720397 Hs.458487;Hs.739309 1337329;1341898;1750879;1768926;1777516;1854506;2120207;2135177;2137736;2174024;2182587;5016596;5022651;5126381 D10S577;D11S2921;D14S1014;D14S1289;G35479;G35684;G35748;G35869;G36006;G36079;G36298;GDB:631802;RH47252;SHGC-104644 MRPP3;PRORP OTTHUMP00000244840;OTTHUMP00000244863;OTTHUMP00000244874;OTTHUMP00000244876;OTTHUMP00000244909;mitochondrial RNase P protein 3;mitochondrial RNase P subunit 3;mitochondrial ribonuclease P protein 3;proteinaceous RNase P protein-coding ENSG00000100890 HGNC:19958 18711 609947 VALIDATED 2302259 KIAA0895L KIAA0895-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH quercetin; cadmium dichloride (ortholog) 16 16 16 q22.1 51717749 51726115 - 67209505 67217883 - 67175602 67183980 - 6480464;8554872 12477932;14702039 653319 I3L230;Q68EN5 ABBA01025432;AC040160;AC074143;AK092303;AK094787;AK096855;AL834156;AMYH02032226;BC007594;BC080183;BC128539;BX460002;CH471092;NM_001040715 AAH07594;AAH80183;AAI28540;BAC03856;CAD38862;EAW83091;NP_001035805;Q68EN5 Hs.651201 2110601;2137781;2140351;2144813;2158249 D16S3308;NOL3_7932;RH41857;RH47869;WI-20202 hypothetical protein LOC653319;uncharacterized protein KIAA0895-like protein-coding ENSG00000196123 HGNC:34408 VALIDATED 2311475 KIAA0754 KIAA0754 INTERACTS WITH aflatoxin B1; mercury atom; mercury(0) 1 1 1 p34.3 38156554 38163532 + 39875176 39882154 + 39409504 39416482 + 6480464 15174051;21139048;21906983;9872452 643314 O94854 AB018297;ABBA01023209;AL137853;AMYH02000832;BF514886;NM_015038 BAA34474;NP_055853;O94854 Hs.658760 5014051 D8S2278 FLJ42354 OTTHUMP00000234547;hypothetical protein LOC643314;uncharacterized protein KIAA0754 protein-coding ENSG00000127603 HGNC:29111 PREDICTED 1604483 KIAA0825 KIAA0825 ASSOCIATED WITH Lung Neoplasms (inferred) 5 5 5 q15 89346774 89816202 - 93486556 93954309 - 94150851 94618604 - 8554872 10048485;11181995;12477932;14702039;15372022;15489334;20379614;21310492;21832049;22318345;22751105 285600 C9J0Q2;Q8IV33 AB020632;ABBA01069268;ABBA01069269;ABBA01069270;ABBA01069271;ABBA01069272;ABBA01069273;ABBA01069274;ABBA01069275;AC010448;AC025766;AC093311;AC104127;AC117521;AK130941;AK308195;AMYH02011806;AMYH02011807;AMYH02011808;AMYH02011809;AMYH02011810;AMYH02011811;AMYH02011812;BC035515;BX648338;CH471084;NM_001145678;NM_173665;XM_006714588 AAH35515;BAA74848;BAC85469;EAW96021;EAW96022;EAW96025;NP_001139150;NP_775936;Q8IV33;XP_006714651 Hs.425123 1675373;1686674;1697718;1704446;1706594;1712002;1714259;1715027;1720807;1749353;1752541;1752591;1753559;1755091;1851565;2158478;2168767;5014051;5015619;5023543;5037552;5094680 D11S3114;D7S795;D8S2278;D8S2279;G59379;PMC55343P10;PMC55343P12;RH102379;RH118454;RH119908;RH120850;RH80937;RH98532;SHGC-106410;SHGC-106415;SHGC-107492;SHGC-111112;SHGC-142024;SHGC-82693;SHGC-82937;STS-R93123;WI-16828 C5orf36;DKFZp686F0372;FLJ27431;MGC34713 OTTHUMP00000162008;OTTHUMP00000222975;hypothetical protein LOC285600;uncharacterized protein KIAA0825 APPROVED protein-coding ENSG00000185261 HGNC:28532 11337 VALIDATED 2291767 KIAA1024L KIAA1024-like FOUND IN integral component of membrane (inferred) 5 5 5 q23.3 125214247 125231116 + 129083884 129100756 + 129748191 129765063 + 15372022 100127206 P59773 ABBA01068850;AC008591;AMYH02012181;CH471062;DR731264;NM_001257308 EAW62380;NP_001244237;P59773 Hs.582534 UPF0258 protein KIAA1024-like;hypothetical protein LOC100127206 protein-coding HGNC:33914 VALIDATED 1604043 KIAA1024 KIAA1024 FOUND IN integral component of membrane (inferred); INTERACTS WITH calcitriol; hydrogen peroxide; 3,4-methylenedioxymethamphetamine (ortholog) 15 15 15 q25.1 56661717 56701948 + 79724858 79764642 + 79432516 79472304 + 6480464 10470851;12168954;12477932;8619474;9110174 23251 H0YNN7;Q9UPX6 AB028947;ABBA01060608;ABBA01060609;ABBA01060610;AC105231;AF035294;AMYH02030877;BC144700;BC152466;CH471136;NM_015206;XM_006720441 AAI52467;AAI60103;BAA82976;EAW99137;NP_056021;Q9UPX6;XP_006720504 Hs.301654 1672918 WI-14737 UPF0258 protein KIAA1024;hypothetical protein LOC23251 protein-coding ENSG00000169330 HGNC:29172 17206 VALIDATED 1605086 KIAA0907 KIAA0907 ENCODES a protein that exhibits RNA binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; nickel dichloride 1 1 1 q22 128955740 128977072 - 155882834 155904209 - 155913045 155934397 - 6480464;8554872 10048485;12477932;16189514;18029348;19641227;21139048;21639856;23144703;8125298 22889 Q7Z7F0 AB020714;ABBA01016680;AK225714;AK289902;AL355388;AMYH02001956;AY112680;AY112681;AY112682;BC027182;BC062637;CH471121;NM_014949 AAH27182;AAH62637;AAM51855;AAM51856;AAM51857;BAA74930;BAF82591;EAW53021;EAW53022;EAW53023;NP_055764;Q7Z7F0 Hs.24656 1664279;1709264;1715293;2153465;5014051;5015619;5017266;5022651;5491324 D11S2921;D11S3114;D8S2278;L18506;MARC_9785-9786:996688607:1;RH120477;RH17869;SHGC-34121;SHGC-85823 BLOM7;RP11-336K24.1 OTTHUMP00000015929;OTTHUMP00000015930;OTTHUMP00000015931;UPF0469 protein KIAA0907;nuclear ribonucleoprotein K homology domain protein protein-coding ENSG00000132680 HGNC:29145 17198 PROVISIONAL 1323087 KIAA0586 KIAA0586 INVOLVED IN cilium assembly; regulation of establishment of protein localization; cilium morphogenesis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centrosome; ciliary basal body; INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; copper(2+) sulfate 14 14 14 q23.1 38944687 39065541 + 58894103 59015549 + 58427385 58548831 + 6480464;8554872 12477932;15146197;15489334;16344560;16702409;17370265;18029348;191447;19144723;21139048;21906983;22505724;23314748;24163370;24250222;24421332;9628581 9786 B4DYW5;B7Z7W7;G3V2T5;G3V4J0;G3V5U9;H0YJF0;Q9BVV6 AB011158;ABBA01018260;ABBA01018261;ABBA01018262;AI223212;AI378482;AK302579;AK302635;AK302718;AK302836;AK310356;AL042761;AL135752;AL139021;AMYH02029282;AMYH02029283;AY359881;BC000900;BC066647;BX097526;CH471061;CN281643;CN308043;DB271535;DC348119;NM_001244189;NM_001244190;NM_001244191;NM_001244192;NM_001244193;NM_014749;XM_006720336;XM_006720337;XM_006720338;XM_006720339;XM_006720340;XM_006720341;XM_006720342;XM_006720343 AAH00900;AAH66647;AAQ63404;BAA25512;BAG63877;BAG63938;BAG64028;BAH13753;EAW80739;EAW80740;EAW80741;NP_001231118;NP_001231119;NP_001231120;NP_001231121;NP_001231122;NP_055564;Q9BVV6;XP_006720399;XP_006720400;XP_006720401;XP_006720402;XP_006720403;XP_006720404;XP_006720405;XP_006720406 Hs.232532 1649730;1679666;1736434;2115778;2126156;2137223;2169824;2176529;2181356 D14S575;D14S696E;G30978;G35653;G36042;G36197;RH15628;RH41809;WI-20905 Talpid3 OTTHUMP00000245211;OTTHUMP00000245212;OTTHUMP00000245271;OTTHUMP00000245272;ortholog of chicken talpid{3};uncharacterized protein KIAA0586 protein-coding ENSG00000100578 HGNC:19960 11092 610178 VALIDATED 1312287 KIAA0930 KIAA0930 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; benzo[a]pyrene 22 22 22 q13.31 29499561 29548119 - 45588123 45636650 - 45192242 45240769 - 6480464 10231032;10591208;12477932;14702039;15324660;15461802;15489334;17353931;19608861;19615732;21832049;21890473;24255178;24816145;8619474;9110174 23313 B0AZU2;B0QY16;B0QY18;B0QY20;F8WD08;H7C1U5;Q6ICG6;V9GYW7;V9GZ62 AB023147;ABBA01007129;ABBA01007130;AI830875;AK025608;AK094359;AK094937;AK124648;AK297058;AK309015;AK315883;AL008718;AMYH02038512;AMYH02038513;AY007105;BC016882;BC038414;BC053595;CH471138;CR456402;KC154032;KF457482;NM_001009880;NM_015264 AAH16882;AAH38414;AAH53595;BAA76774;BAC85917;BAF98774;BAG52960;BAH12486;CAG30288;CAK54391;CAK54690;EAW73374;EAW73375;EAW73376;NP_001009880;NP_056079;Q6ICG6 Hs.592207 1666059;1739665;2127597;2135353;2189555;5022450;5109281 A006N35;D10S275;D1S1425;D22S1121E;SHGC-16601;STS-Z40753;UniSTS:237369 C22orf9;LSC3 OTTHUMP00000199521;OTTHUMP00000199522;OTTHUMP00000199523;OTTHUMP00000199524;hypothetical protein LOC23313;uncharacterized protein KIAA0930 APPROVED protein-coding HGNC:1314 12802 VALIDATED 1604036 KIAA1107 KIAA1107 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; genistein; melphalan 1 1 1 p22.1 90879002 90896679 + 92632609 92650280 + 92167052 92184723 + 6480464;8554872 10470851;12477932;21900206 23285 E9PEZ5;Q9UPP5 AB029030;ABBA01045551;AC104836;AF017090;AK302496;AMYH02001479;BC037317;BX108841;DC331933;EG328259;NM_015237 AAC28132;AAH37317;BAA83059;BAG63780;NP_056052;Q9UPP5 Hs.21554 1664603;1781864;2144256 SHGC-75146;SHGC-86300;WI-13478 OTTHUMP00000011946;hypothetical protein LOC23285;uncharacterized protein KIAA1107 protein-coding ENSG00000069712 HGNC:29192 VALIDATED 1603694 KIAA1033 KIAA1033 This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 12 12 12 q24.11 105165774 105227195 + 105501492 105562912 + 105107714 105169134 + 6480464;8699517;7240710;8554872 10470851;12477932;14702039;15231748;15489334;19922875;20360068;20376207;20498093;20923837;21139048;21498477;21906983;21963094;22673115;22863883;22939629;24332808;24654937;24816145 23325 F8VNZ5;F8VQX3;F8VYH7;F8W1W1;Q2M389;R4GMM5 AB028956;ABBA01053186;ABBA01053187;AC016257;AF075010;AI753633;AK001657;AK001728;AK023146;AK026950;AK027218;AL137753;AMYH02027109;BC012556;BC031358;BC040936;BC104992;BC104994;BC110850;BC143373;CH471054;KF455706;KF455714;NG_034157;NM_001293640;NM_015275;XM_005268742;XM_005268743;XM_005268744;XM_005268745;XM_005268746;XR_245916 AAH31358;AAH40936;AAI04993;AAI04995;AAI10851;AAI43374;BAA82985;BAA91816;EAW97758;EAW97759;EAW97760;EAW97761;NP_001280569;NP_056090;Q2M389;XP_005268799;XP_005268800;XP_005268801;XP_005268802;XP_005268803 Hs.12144 1680926;1700830;1722331;2156315;2156317;5015961;5037552 D15S1477;D5S2644;D8S2279;G60233;RH104040;RH79600;WIAF-1520 MRT43;SWIP OTTHUMP00000242238;WASH complex subunit 7;strumpellin and WASH-interacting protein protein-coding ENSG00000136051 HGNC:29174 13829 615748;615817 REVIEWED 1604047 KIAA0922 KIAA0922 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; atrazine 4 4 4 q31.3 151681405 151882587 + 154387498 154558760 + 153466346 153636856 + 6480464;8554872 10231032;11230166;12477932;14702039;16344560;18976975;21963094;22268729;22505724;23648065;23690469 23240 A2VDJ0;B3KU55;F8WEQ2;H0Y2M0 AB023139;ABBA01070140;ABBA01070141;ABBA01070142;AC106865;AC116648;AK001454;AK092270;AK096538;AK128028;AK308448;AL136932;AMYH02010322;AMYH02010323;BC044932;BC131505;BQ270562;CH471056;DA778851;NM_001131007;NM_015196;XM_005262869;XM_005262870;XM_005262871 A2VDJ0;AAH44932;AAI31506;BAA76766;BAG50915;BAG52515;BAG53317;CAB66866;EAX04956;EAX04957;EAX04958;EAX04959;NP_001124479;NP_056011;XP_005262926;XP_005262927;XP_005262928 Hs.732450 1657774;1670720;1695214;1695476;1695514;1715049;1716697;1726919;1775393;1787834;1853684;1853686;2121752;2125418;2127801;2145954;2167023;2181031;5093022 A009E20;G32474;G34295;G62703;RH119476;RH121607;SHGC-12258;SHGC-173518;SHGC-24451;SHGC-37299;SHGC-50460;SHGC-50737;SHGC-62919;SHGC-68222;SHGC-68396;SHGC-68612;SHGC4-1534;STS-H60892;STS-N58226 DKFZp586H1322;FLJ10592;TMEM131L OTTHUMP00000203505;OTTHUMP00000203506;OTTHUMP00000205136;transmembrane protein 131-like protein-coding ENSG00000121210 HGNC:29146 13823 VALIDATED 1606528 KIAA1143 KIAA1143 INTERACTS WITH paracetamol; uranium atom 3 3 3 p21.31 44728223 44741161 - 44790236 44803173 - 44748744 44761681 - 6480464 10574461;12477932;15489334;16344560;17081983;21832049;8889548 57456 Q96AT1 AB032969;ABBA01024737;AC098649;AK289549;AMYH02006651;BC008468;BC016790;BC070360;BU741967;CH471055;CS300590;DA183520;DA192476;NM_020696;XM_005265345 AAH08468;AAH16790;BAA86457;BAF82238;CAK32254;EAW64722;EAW64723;NP_065747;Q96AT1;XP_005265402 Hs.744955 1687658;1688991;1694816;2154969;5014051;5015621;5022651;5037552 D11S2921;D11S3732;D3S4052;D8S2278;D8S2279;G43639;RH11250;RH68393 OTTHUMP00000164118;hypothetical protein LOC57456;uncharacterized protein KIAA1143 protein-coding ENSG00000163807 HGNC:29198 13833 VALIDATED 1342853 KIAA1045 KIAA1045 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH hydralazine; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 p13.3 34889783 34914129 + 34957484 34982541 + 34957487 34982544 + 1580863;6480464;8554872 10470851;12477932;15164053 23349 Q9UPV7 AB028968;ABBA01065002;AK294342;AL137621;AL355377;AMYH02019454;AMYH02019455;AY956806;AY956807;AY956808;BC041169;CH471071;NM_015297;XM_005251420;XR_242502 AAX51884;AAX51885;AAX51886;BAA82997;BAH11739;EAW58408;NP_056112;Q9UPV7;XP_005251477 Hs.7989 1668214;1683886;1683888;1739939;1775845;1847324;2159722;2176012 Cda1ch12;D9S1757;RH35829;RH74775;RH74776;SHGC-35868;STS-H40431;WI-13627 DKFZp434I2112;RP11-392A14.4 OTTHUMP00000021312;OTTHUMP00000021313;hypothetical protein LOC23349 protein-coding ENSG00000122733 HGNC:29180 VALIDATED 1603687 KIAA0895 KIAA0895 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; progesterone 7 7 7 p14.2 36348324 36414291 - 36363759 36429734 - 36324150 36390125 - 6480464 10048485;12477932;16344560;19322201;24250222 23366 B4DYW2;C9JGM1;C9JWZ6;E9PE22;Q8NCT3 AB020702;ABBA01056900;ABBA01056901;ABBA01056902;ABBA01056903;ABBA01056904;ABBA01056905;AC006960;AK293912;AK294686;AK302559;AK302632;AMYH02015525;AMYH02015526;AMYH02015527;BC028678;BC056191;BC063658;BC110422;BC136362;BC144032;BE463421;BU507941;CH236951;CH471073;DB060820;DB462178;DC403070;DC403204;NM_001100425;NM_001199706;NM_001199707;NM_001199708;NM_001300956;NM_015314;XM_005249688;XM_005249689;XM_005249690;XM_006715678;XM_006715679 AAH28678;AAH56191;AAI10423;AAI36363;AAI44033;BAA74918;BAG57296;BAG57847;BAG63825;BAG63874;EAW94064;EAW94065;EAW94066;NP_001093895;NP_001186635;NP_001186636;NP_001186637;NP_001287885;NP_056129;Q8NCT3;XP_005249745;XP_005249746;XP_005249747;XP_006715741;XP_006715742 Hs.6224;Hs.735371 1648692;2168905;2175643;2191117;5020948;5022200;5022450;5022578 A002T04;D10S275;D1S1423;G35510;L18426;MARC_14831-14832:1017257326:1;RH12085;RH35996 OTTHUMP00000206975;OTTHUMP00000206977;OTTHUMP00000206978;OTTHUMP00000206979;OTTHUMP00000206980;OTTHUMP00000206982;hypothetical protein LOC23366;uncharacterized protein KIAA0895 protein-coding ENSG00000164542 HGNC:22206 17197 VALIDATED 2301934 KIAA1210 KIAA1210 X X X q24 118667349 118739298 - 118212598 118284542 - 119078635 119150579 - 10574462;15772651;18029348 57481 Q9ULL0 AB033036;ABBA01036715;ABBA01036716;ABBA01036717;ABBA01036718;ABBA01036719;ABBA01036720;ABBA01036721;ABBA01036722;ABBA01036723;ABBA01036724;AL441887;AL590376;AL772284;AMYH02040324;AMYH02040325;AMYH02040326;BX099098;DT932686;DV080213;NM_020721;XM_006724774 BAA86524;NP_065772;Q9ULL0;XP_006724837 Hs.97594 RP13-347D8.3 OTTHUMP00000223055;hypothetical protein LOC57481;uncharacterized protein KIAA1210 protein-coding ENSG00000250423 HGNC:29218 VALIDATED 1602270 KIAA1211L KIAA1211-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; paracetamol; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 2 2 2 q11.2 93615445 93757699 - 99410309 99552684 - 98793846 98936221 - 6480464;8554872 12477932;19416921;20379614 343990 C9JDX0;C9JFM2;C9JK00;C9JXD6;Q6NV74 ABBA01073962;ABBA01073963;ABBA01073964;AC084377;AMYH02004390;AMYH02004391;BC068277;BM922097;CF593294;CH471127;NM_207362;XM_005263923;XM_005263924;XM_005263925;XM_005263926;XM_005263927 AAH68277;EAX01894;EAX01895;NP_997245;Q6NV74;XP_005263980;XP_005263981;XP_005263982;XP_005263983;XP_005263984 Hs.469398 1651187;1701160;1711968;1747965;1777364;1784068;1787678 G66767;RH104208;RH118430;RH45398;SHGC-146666;SHGC-156155;WI-16262 C2orf55;MGC42367 OTTHUMP00000203286;hypothetical protein LOC343990;uncharacterized protein C2orf55;uncharacterized protein KIAA1211-like APPROVED protein-coding ENSG00000196872 HGNC:33454 14620 VALIDATED 1344341 KIAA1109 KIAA1109 This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009] 4 4 4 q27 120475353 120667340 + 123073488 123283914 + 122152333 122362759 + 737633;6480464;8554872 12477932 10470851;10718198;14702039;16386706;16545529;16632497;17190194;17554300;17558408;17999365;18311140;18418394;18840430;19061490;19302705;19430480;19455118;19640479;20190752;20197757;20453842;20553587;21139048;22118674;22876110;23128233;23817571;8125298 84162 H0Y781;H3BLT5;H7C070;H7C0G8;H7C0Y8;H7C121;H7C2X5;H7C3N8;Q2LD37 AB029032;AB037792;ABBA01044734;AC022489;AC104658;AC127089;AK024043;AK025057;AK095216;AK124902;AK127686;AK127698;AK129931;AK225886;AK303483;AK309063;AL137254;AL137384;AL137532;AL833461;AMYH02010016;AMYH02010017;BC018094;BC032408;BC045783;BC108274;CA413044;CH471056;CR936613;DQ335469;KF457817;NG_015813;NM_015312;XM_005263282;XM_005263283;XM_005263284;XM_005263285;XM_005263286;XM_005263287;XM_005263288;XM_005263289;XM_005263290;XM_005263291;XM_005263292;XM_006714342;XM_006714343;XM_006714344 AAH18094;AAH45783;AAI08275;AAY41044;ABC59821;BAA83061;BAA92609;BAB15057;BAC85988;BAC87084;BAG51255;BAG54552;BAG64519;CAB70656;CAB70718;CAB70795;CAI56756;EAX05239;EAX05240;EAX05241;NP_056127;Q2LD37;XP_005263339;XP_005263340;XP_005263341;XP_005263342;XP_005263343;XP_005263344;XP_005263345;XP_005263346;XP_005263347;XP_005263348;XP_005263349;XP_006714405;XP_006714406;XP_006714407 Hs.408142 1645863;1718151;1735354;2126977;2143089;2181348;5094122 D4S2477E;D4S2628;D4S3100;G54558;RH122843;SHGC-50429;SHGC-67953 DKFZp781P0474;FSA;MGC110967 OTTHUMP00000196356;Tweek;fragile site-associated protein;uncharacterized protein KIAA1109 APPROVED protein-coding ENSG00000138688 HGNC:26953 611565 REVIEWED 1603618 KIAA1147 KIAA1147 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH coumestrol; cyclosporin A; paracetamol 7 7 7 q34 136078159 136123586 - 141356528 141401953 - 141652381 141702153 - 6480464;8554872 10574461;12477932;16751776;21890473 57189 A4D1U4;C9J7X6 AB032973;ABBA01034108;ABBA01034109;AC004918;AC211775;AF116707;AF136629;AMYH02016922;AMYH02016923;BC012493;CH236950;CH471070;DQ597625;HG500671;NM_001080392;XR_428180;XR_431079 A4D1U4;AAF71127;AAH12493;AAI56554;AAI72537;BAA86461;EAL24019;EAW83974;NP_001073861 Hs.521240 1649325;1649327;1686404;1735670;1777216;2111206;2115708;2130685;2138757;2151029;2180807;5014057 A002B37;D1S3699;D7S2047E;D7S2132E;D7S810E;G19900;GDB:193149;GDB:4585087;RH18340;RH99114;WI-11397;WI-14889 LCHN;PRO2561;RP5-894A10.2 OTTHUMP00000212267;OTTHUMP00000212268;predicted protein of HQ2561 protein-coding ENSG00000257093 HGNC:29472 VALIDATED 1320364 KIAA1161 KIAA1161 ENCODES a protein that exhibits hydrolase activity, hydrolyzing O-glycosyl compounds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); positive regulation of insulin-like growth factor receptor signaling pathway (inferred); positive regulation of protein kinase B signaling (inferred); FOUND IN integral component of membrane (inferred); nuclear membrane (inferred); INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; rosiglitazone; cadmium dichloride (ortholog) 9 9 9 p13.3 34300413 34308399 - 34368907 34376894 - 34366669 34377093 - 6480464 10574461;12477932;19204726;21963094;22268729 57462 Q6NSJ0;X6RA92 AB032987;ABBA01065012;AI066728;AL356494;AMYH02019445;AW008982;BC070098;BC110493;CB988183;CH471071;NM_020702;XM_006716808 AAH70098;AAI10494;BAA86475;EAW58460;NP_065753;Q6NSJ0;XP_006716871 Hs.522083;Hs.655456 2135461;5019042 G43513;WI-20524 NET37 OTTHUMP00000021254;hypothetical protein LOC57462;uncharacterized family 31 glucosidase KIAA1161 protein-coding HGNC:19918 17208 VALIDATED 2303430 KIAA1211 KIAA1211 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 4 4 4 q12 54542821 54703255 + 57036361 57196890 + 56170195 56330724 + 6480464;8554872 10574462;11230166;12477932;14702039;23314748 57482 F5H1N7;Q6ZU35;R4GNI9 AB033037;ABBA01003420;ABBA01003421;AC022267;AC068620;AK097530;AK126014;AK302486;AL110138;AL133028;AL137336;AMYH02009255;AMYH02009256;BC144536;BC150615;BC171783;NM_020722;XM_005265752;XM_005265754;XM_005265755;XM_005265756;XM_006714044;XM_006714045 AAI44537;AAI50616;AAI67851;AAI71783;BAA86525;BAC86392;BAG63771;CAB61360;CAB70699;NP_065773;Q6ZU35;XP_005265809;XP_005265811;XP_005265812;XP_005265813;XP_006714107;XP_006714108 Hs.596667 1647077;1670772;1675866;1853069;1853071;2111123;2117162;2166738;2185133 D4S1495E;D4S260;G09535;G34122;RH94148;SHGC-18324;SHGC-50836;STS-N21336;STS-N35889 DKFZp564H1363 OTTHUMP00000218888;OTTHUMP00000218923;hypothetical protein LOC57482;uncharacterized protein KIAA1211 protein-coding HGNC:29219 VALIDATED 1601743 KIAA1191 KIAA1191 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH coumestrol; diazinon; paracetamol 5 5 5 q35.2 172713646 172729390 + 175773065 175788809 - 176346061 176361807 - 6480464 10565538;10574461;12477932;15146197;16169070;16344560;17032350;17207965;18482256;18541383;21044950;21078624;21153684;21832049;21900206;8125298 57179 D6RAJ7;D6RCE3;D6RF63;E9PKI5;Q96A73 AA569811;AB033017;ABBA01033501;AC138956;AK315428;AL037719;AL390217;AL567350;AL832558;AMYH02012812;BC006316;BC010448;BC012848;BC017097;BM547296;BX648859;CH471195;CN341192;CR457331;DA789543;DQ073392;HY114499;HY119081;HY120613;NM_001079684;NM_001079685;NM_001287335;NM_001287336;NM_020444;NR_109796;NR_109797;NR_109798;NR_109799;NR_109800;XM_005265941;XM_005265945;XM_005265946 AAH06316;AAH10448;AAH12848;AAH17097;AAY82896;ACE86692;ACE87376;ADQ31901;BAA86505;BAG37816;CAB99231;CAG33612;CAH56134;EAW85087;EAW85088;EAW85089;EAW85090;EAW85091;EAW85092;EAW85093;EAW85094;EAW85095;EAW85096;NP_001073152;NP_001073153;NP_001274264;NP_001274265;NP_065177;Q96A73;XP_005265998;XP_005266002;XP_005266003 Hs.743257 1683627;1757681;2146106;2153753;2158442;5015619;5037552 D11S3114;D8S2279;G20706;RH41058;SGC30272;SHGC-146224;WI-13355 FLJ21022;p60MONOX OTTHUMP00000161238;OTTHUMP00000223265;OTTHUMP00000223266;UPF0498 protein KIAA1191;brain-derived rescue factor p60MONOX;flavin monooxygenase motif-containing protein of 33 kDa;flavine monooxygenase motif-containing protein of 33 kDa;hypothetical protein LOC57179;putative monooxygenase p33MONOX protein-coding ENSG00000122203 HGNC:29209 13839 VALIDATED 1606254 KIAA1324 KIAA1324 Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 1 1 1 p13.3 107925989 108018762 + 109656585 109749403 + 109113963 109206781 + 6480464;8554872 10718198;12477932;12975309;14702039;14767521;16322283;16344560;16712791;19199708;20379614;21072319;21102415 57535 B4DLZ2;B4DWM4;E9PB18;E9PIF6;E9PLQ2;E9PLY8;E9PMS2;E9PS21;H0YDD2;Q6UXG2 AB037745;ABBA01068372;ABBA01068373;ABBA01068374;ABBA01068375;ABBA01068376;AI923722;AJ512825;AJ512826;AK026832;AK057647;AK122934;AK297221;AK297478;AK301598;AK304003;AL138933;AL356389;AMYH02001704;AMYH02001705;AY358366;BC031648;BC125208;BQ101251;CA775143;CB142078;CD108482;CD360008;CH471122;DA998586;DC402202;NG_032763;NM_001267048;NM_001284352;NM_001284353;NM_020775 AAI25209;AAQ88732;BAA92562;BAG59704;BAG59899;BAG63086;BAG64920;CAD55147;CAD55148;EAW56359;EAW56360;EAW56361;EAW56362;EAW56363;NP_001253977;NP_001271281;NP_001271282;NP_065826;Q6UXG2 Hs.708190 1667906;1750151;1779436;5015619;5016596;5016781;5022200;5022651;5037552 D11S2921;D11S3114;D8S2279;GDB:631802;L18426;SHGC-112274;SHGC-153417;SHGC-17442;SHGC-67307 EIG121;MGC150624;RP11-352P4.1;maba1 OTTHUMP00000013429;OTTHUMP00000013430;OTTHUMP00000013431;OTTHUMP00000233619;OTTHUMP00000233620;UPF0577 protein KIAA1324;estrogen induced gene 121;estrogen-induced gene 121 protein;hypothetical protein LOC57535 APPROVED protein-coding HGNC:29618 13850 611298 REVIEWED 1352431 KIAA1217 KIAA1217 INVOLVED IN embryonic skeletal system development (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; all-trans-retinoic acid; bicalutamide 10 10 10 p12.31 23671793 24528691 + 23983675 24836772 + 23694746 24547848 + 737633;6480464;8554872 12477932 10574462;14702039;16189514;16344560;19338451;20125193;20379614;20585627;21963094;22107760;23333304;23563609 56243 B7ZM29;F5H1Q3;Q5T5P0;Q5T5P1;Q5T5P2 AB033043;AB291616;ABBA01034449;ABBA01034450;ABBA01034451;ABBA01034452;ABBA01034453;ABBA01034454;ABBA01034455;ABBA01034456;ABBA01034457;ABBA01034458;ABBA01034459;ABBA01034460;ABBA01034461;AC063961;AK021984;AK024199;AK055179;AK091142;AK096446;AK125675;AK300422;AK303905;AL157473;AL157781;AL353583;AL353650;AL355977;AL356113;AL356477;AL391499;AL392104;AL833280;AMYH02022453;AMYH02022454;AMYH02022455;AMYH02022456;AMYH02022457;AMYH02022458;AMYH02022459;AMYH02022460;AMYH02022461;AMYH02022462;AMYH02022463;AMYH02022464;AMYH02022465;AMYH02022466;AMYH02022467;AMYH02022468;AMYH02022469;AMYH02022470;AMYH02022471;AMYH02022472;BC017424;BC018764;BC098577;BC136521;BC144227;BX640796;BX648451;CH471072;DA408335;DB164876;DC387942;NM_001098500;NM_001282767;NM_001282768;NM_001282769;NM_001282770;NM_019590;XM_005252500;XM_005252501;XM_005252502;XM_005252503;XM_005252504;XM_005252505;XM_005252506;XM_005252507;XM_005252508;XM_005252509;XM_005252512;XM_005252513;XM_005252514;XM_005252515;XM_005252516;XM_005252517;XM_005252518;XM_005252520;XM_005252522;XM_005252523;XM_005252524;XM_006717466;XM_006717467;XM_006717468;XM_006717469;XM_006717470 AAH18764;AAH98577;AAI36522;AAI44228;BAA86531;BAC86241;BAF63529;BAG62149;BAG64835;CAB75668;CAE45879;EAW86123;EAW86124;EAW86125;NP_001091970;NP_001269696;NP_001269697;NP_001269698;NP_001269699;NP_062536;Q5T5P2;XP_005252557;XP_005252558;XP_005252559;XP_005252560;XP_005252561;XP_005252562;XP_005252563;XP_005252564;XP_005252565;XP_005252566;XP_005252569;XP_005252570;XP_005252571;XP_005252572;XP_005252573;XP_005252574;XP_005252575;XP_005252577;XP_005252579;XP_005252580;XP_005252581;XP_006717529;XP_006717530;XP_006717531;XP_006717532;XP_006717533 Hs.445885 1299888;1336798;1337066;1337901;1339095;1341962;1342166;1649643;1671736;1684620;1684870;1698112;1705694;1714309;1716529;1716837;1716969;1717399;1725531;1752559;1755517;1761507;1762419;1766651;1768139;1780216;1789232;1856212;1856902;2149834;2151766;2151778;2159704;2183023;7186372;7187427;7187961 AFM290XE1;D10S1139;D10S1567;D10S1592;D10S1673;D10S1747;D10S1749;D10S550;D10S582;D10S586;G10340;G17481;G65614;RH102588;RH119164;RH119934;RH121550;RH121712;RH121865;RH122190;RH91497;RH93031;SGC38272;SHGC-106427;SHGC-142376;SHGC-145514;SHGC-146251;SHGC-149944;SHGC-154635;SHGC-17223;SHGC-5927;SHGC-83428;WI-11237;WI-17512 DKFZp761L0424;MGC31990;RP11-324E23.1;SKT OTTHUMP00000019313;OTTHUMP00000019314;OTTHUMP00000019316;OTTHUMP00000019317;OTTHUMP00000019318;OTTHUMP00000196692;OTTHUMP00000196693;OTTHUMP00000196694;likely orthologue of Mus musculus enhancer trap locus 4;sickle tail protein homolog protein-coding ENSG00000120549 HGNC:25428 11132 VALIDATED 1317800 KIAA1279 KIAA1279 This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010] 10 10 10 q22.1 64024346 64052614 + 70748477 70776739 + 68988721 69016983 + 6480464;7240710;8554872;8699517 10574462;12477932;15164054;15489334;15883926;16189514;16225668;16344560;16385451;16713569;17353931;20301612;21044950;21139048;21890473;22797925;22863883;23383273;23427148;24072599;24255178;24816145;25036637 26128 Q96EK5 AA913814;AB033105;ABBA01019596;ABBA01019597;AI491993;AK291343;AL050190;AL359844;AMYH02023266;AMYH02023267;BC006427;BC012180;CH471083;DA292451;NG_017061;NM_015634 AAH12180;BAA86593;BAF84032;CAB43311;EAW54308;NP_056449;Q96EK5 Hs.279580 1672785;2130869;2130871;5092352 A005Q41;G20424;G49388;SHGC-36771 DKFZp586B0923;KBP;TTC20 KIF1-binding protein;OTTHUMP00000019712 APPROVED protein-coding ENSG00000198954 HGNC:23419 13848 609367;609460 REVIEWED 1603535 KIAA1324L KIAA1324-like ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; benzene 7 7 7 q21.12 81210196 81394037 - 86506222 86689014 - 86876906 87059698 - 6480464;8554872 12477932;12690205;14702039;16344560;17475571;21177533;8889548 222223 A8MWY0;C9JA41;C9JFK7;F1LLU5;H7BYL8;H7BZ34;H7C2N5 ABBA01045869;AC000122;AC002081;AC004519;AI797353;AK055902;AK296250;AK303619;AMYH02016213;BC117309;BM675231;BX346336;CH236949;CH471091;DA240191;DB500778;DB502291;DY654933;NM_001142749;NM_001291990;NM_001291991;NM_152748;NR_030672;XM_006715894;XM_006715895 A8MWY0;AAI17310;BAB71041;BAG58965;BAG64628;EAL24181;EAW76969;NP_001136221;NP_001278919;NP_001278920;NP_689961;XP_006715957;XP_006715958 Hs.208093 1334981;1696820;1696822;1725335;1732083;1778625;1856064;2161144;2163706;7186801 D7S2481;D7S822;G49154;G49155;GDB:1318010;GDB:1318244;RH118985;RH45487;SHGC-56127 EIG121L;FLJ31340;hEIG121L EIG121-like;OTTHUMP00000204820;OTTHUMP00000204999;OTTHUMP00000205050;OTTHUMP00000205051;UPF0577 protein KIAA1324-like;estrogen-induced gene 121-like protein;hypothetical protein LOC222223 protein-coding ENSG00000164659 HGNC:21945 13405 614048 VALIDATED 1602875 KIAA1456 KIAA1456 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH 4-nonylphenol; all-trans-retinoic acid; valproic acid 8 8 8 p22 11768471 11852572 + 12803183 12887286 + 12945674 13029777 + 6480464 10819331;12477932;14702039;15489334;16344560;17207965;17903295;23381944;23793025 57604 E9PK20;F6XBY7;K7EM26;Q8N9K7;Q9P272 AB040889;ABBA01021630;AC135352;AK094299;AK125638;AK296010;AMYH02017473;AW295329;BC016633;BC035082;DA390356;DC334299;DR001645;NM_001099677;NM_020844;XM_005273584;XM_005273585;XM_005273586;XM_005273587;XM_005273588;XM_005273589;XM_005273590;XM_005273591;XM_005273592;XM_005273593;XM_006716371;XM_006716372;XM_006716373;XM_006716374;XM_006716375;XM_006716376;XM_006716377 AAH16633;ADQ32767;BAA95980;BAC04326;BAG58781;NP_001093147;NP_065895;Q9P272;XP_005273641;XP_005273642;XP_005273643;XP_005273644;XP_005273645;XP_005273646;XP_005273647;XP_005273648;XP_005273649;XP_005273650;XP_006716434;XP_006716435;XP_006716436;XP_006716437;XP_006716438;XP_006716439;XP_006716440 Hs.202521 1334904;1667968;1754491;1786834;2128530;2190685;2190687;5015619;5015961;5016596;5016700;5037552 D11S3114;D15S1477;D8S1106;D8S1109;D8S12982;D8S12994;D8S2279;D8S492;GDB:631802;RH79802;SHGC-132762;SHGC-172451 C8orf79;FLJ36980;MGC43113;TRM9L OTTHUMP00000229268;hypothetical protein LOC57604;putative methyltransferase KIAA1456 APPROVED protein-coding ENSG00000250305 HGNC:26725 13862 615666 VALIDATED 1350923 KIAA1407 KIAA1407 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene 3 3 3 q13.31 112091432 112183887 - 113682984 113775460 - 113964137 114056613 - 6480464;8554872 10718198;12477932;21903422 57577 B4DYL1;C9JA89;F8WCI8;F8WF68;H7C553;Q8NCU4 AB037828;ABBA01061640;AC092896;AC128687;AF509494;AK125304;AK295855;AK302488;AMYH02007456;BC150592;CH471052;NM_020817;XM_005247680;XM_005247681;XM_006713715 AAI67836;AAM34297;BAA92645;BAG58661;BAG63773;EAW79615;NP_065868;Q8NCU4;XP_005247737;XP_005247738;XP_006713778 Hs.477159 1675084;1688550;2178737;2179216 RH92357;SGC33607;SHGC-16540;SHGC-77181 FLJ43314 OTTHUMP00000214924;coiled-coil domain-containing protein KIAA1407;hypothetical protein LOC57577 protein-coding ENSG00000163617 HGNC:29272 13856 PREDICTED 1320499 KIAA1244 KIAA1244 INVOLVED IN negative regulation of phosphatase activity; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; all-trans-retinoic acid; benzo[a]pyrene 6 6 6 q23.3 139223168 139405937 + 138483053 138665800 + 138161916 138344663 + 6480464;8554872 10574462;10737800;11551928;12477932;14702039;19389623;19496786;23956138;24051437;24457600;8889548 57221 B5MDV5;C5NM88;Q5TH69 AB033070;AB252196;ABBA01025809;ABBA01025810;ABBA01025811;ABBA01025812;AF413080;AK000682;AK021955;AK056626;AK124312;AL031003;AL031433;AL391240;AMYH02014575;AMYH02014576;AMYH02014577;AW300603;BC022980;BC137174;BF332780;BF744369;BF943924;BU682567;BX640863;CH471051;DT932721;KF458300;NM_020340;XM_006715519 AAH22980;AAI37175;AAL04174;BAA86558;BAH83562;CAE45924;EAW47918;NP_065073;Q5TH69;XP_006715582 Hs.194408 1651026;1651363;1666660;1678377;1776585;1789146;1853216;1856009;1858251;2120088;2143734;2184305;5037552 A002U24;D6S1080;D6S1144E;D8S2279;G65718;RH1527;RH18421;RH37433;RH46752;RH94257;SHGC-32063;SHGC-53488;WI-14023 A7322;ARFGEF3;BIG3;C6orf92;FLJ32064;PPP1R33;RP3-422G23.4;dJ171N11.1;dJ55C23.6 OTTHUMP00000017295;brefeldin A-inhibited guanine nucleotide-exchange protein 3;protein phosphatase 1, regulatory subunit 33 protein-coding ENSG00000112379 HGNC:21213 13845 VALIDATED 1343837 KIAA1328 KIAA1328 INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; paracetamol 18 18 18 q12.2 31218516 31615191 + 34409069 34812095 + 36829106 37231639 + 6480464 10718198;11076863;11230166;12477932;15489336;15656913;16381901;20936779;24347629 57536 K7EJ61;K7EM46;K7EP66;M0QYQ2;Q86T90 AB037749;ABBA01022423;ABBA01022424;ABBA01022425;ABBA01022426;ABBA01022427;AC009854;AC015961;AC016493;AC023577;AK130479;AK292288;AK304230;AL832625;AMYH02034570;AMYH02034571;AMYH02034572;BC008670;BC037903;BC045585;BX648875;CH471088;NM_020776;XM_005258315;XM_005258317;XM_005258318;XM_005258319;XM_005258321;XM_006722510;XM_006722511 AAH08670;AAH37903;AAI46692;BAA92566;BAF84977;BAG65099;CAD89947;CAL37981;CAL38258;EAX01387;NP_065827;Q86T90;XP_005258372;XP_005258374;XP_005258375;XP_005258376;XP_005258378;XP_006722573;XP_006722574 Hs.4045;Hs.586976 1341942;1728117;1750149;1759345;2150918;5022588;5037552 D18S1160;D5S1597E;D8S2279;G63330;RH66345;SHGC-112273;SHGC-150925 hinderin;uncharacterized protein KIAA1328 protein-coding ENSG00000150477 HGNC:29248 17211 VALIDATED 1603021 KIAA1257 KIAA1257 ASSOCIATED WITH Melanoma (inferred) 3 3 3 q21.3 127121958 127145162 - 128689779 128719915 - 128970936 129001080 - 8554872 10574462;12477932;14702039;16344560;18579725;20379614 57501 D6RH05;Q9ULG3 AB033083;ABBA01020918;AC112484;AK056377;AMYH02007628;BC031632;BC038736;DB086263;DB095211;NM_020741;XM_005247667;XM_005247668;XM_005247669;XM_005247670 AAH31632;AAH38736;BAA86571;NP_065792;Q9ULG3;XP_005247724;XP_005247725;XP_005247726;XP_005247727 Hs.518247 1687516;1784858;5015861;5015961;7185938 D10S16;D15S1477;RH93217;SHGC-156125 OTTHUMP00000217114;OTTHUMP00000217115;OTTHUMP00000217116;hypothetical protein LOC57501;uncharacterized protein KIAA1257 protein-coding ENSG00000114656 HGNC:29231 PREDICTED 1346091 KIAA1462 KIAA1462 INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell-cell junction (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 10 10 10 p11.23 30066704 30113471 - 30301729 30348488 - 30012800 30059559 - 737633;6480464;8554872 12477932 10819331;14702039;19204726;21088011;21378988;21884682;24255178;24349219;24457600 57608 Q9P266 AB040895;ABBA01034353;ABBA01034354;AK055602;AK074200;AK308850;AL050154;AL158036;AL583916;AMYH02022552;AMYH02022553;BC047548;BC071601;BC153865;BX648192;BX648263;BX648773;CB988996;CH471072;NM_020848;XM_005252549 AAH47548;BAA95986;CAC29500;CAI46027;EAW86016;EAW86017;NP_065899;Q9P266;XP_005252606 Hs.533953 1644896;1668794;1683920;1686496;1743189;1846755;2117156;2124813;2142173;2142175;5020319;5022137 A006B30;D10S1863;G09472;G20680;GDB:293953;RH92028;RH92192;SHGC-53401;STS-AA027219;STS-R63343;WI-13418;WI-16935 JCAD OTTHUMP00000019390;hypothetical protein LOC57608;junctional protein associated with coronary artery disease;uncharacterized protein KIAA1462 protein-coding ENSG00000165757 HGNC:29283 614398 VALIDATED 1606251 KIAA1377 KIAA1377 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,4-dichloroaniline; diuron; trichostatin A 11 11 11 q22.1 98946549 99033401 + 101785746 101871793 + 101915015 102001062 + 6480464;8554872 10718198;12107411;12477932;12812986;14702039;15383276;15489334;16169070;19799413;21900206;22264561;22321011;22712476;23080069;24722188;8889548 57562 H0YDI0;H0YF13;Q9P2H0 AB037798;ABBA01039954;AK057230;AK095004;AK296350;AK310418;AL045516;AMYH02025472;AMYH02025473;AMYH02025474;AMYH02025475;AMYH02025476;AP003383;BC036525;BC146807;BM690026;BQ267650;BQ637903;BU785174;BX647415;CA848462;CH471065;DB455438;KF455480;KF495810;NM_020802;XM_005271627 AAI67859;BAA92615;BAG52970;BAG59033;EAW67007;EAW67008;NP_065853;Q9P2H0;XP_005271684 Hs.156352 1647700;1676804;1681991;1723181;1789224;2154261;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;G65610;IB1788;RH118457;RH65365;RH92171;RH93179 OTTHUMP00000235687;hypothetical protein LOC57562;uncharacterized protein KIAA1377 protein-coding ENSG00000110318 HGNC:29264 17212 614634 VALIDATED 1316621 KIAA1509 KIAA1509 ASSOCIATED WITH Hydrocephalus (inferred) 7240710 57641 236600;616053 1603673 KIAA1429 KIAA1429 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 1-nitropyrene; trichostatin A; valproic acid 8 8 8 q22.1 91686588 91751673 - 95500005 95565746 - 94487777 94553518 - 6480464;8554872 10718198;12477932;14702039;15009096;15161933;15302935;15998806;16055720;20811636;21139048;21890473;21906983;21963094;22190034;22586326;22939629;24457600;24639526;24981863 25962 H0YB68;H0YBN5;H0YC41;Q69YN4 AA731668;AB037850;ABBA01037454;AC023632;AF116724;AK000668;AK022906;AL117434;AL832487;AMYH02018428;BC003701;BC053875;BC069239;BC112288;BC113380;BM462567;CD108987;CH471060;CR627454;NM_015496;NM_183009 AAH03701;AAH69239;AAI12289;AAI13381;AAO15300;BAA91316;BAA92667;BAB14301;CAB55922;CAH10535;CAH10773;EAW91715;EAW91716;EAW91717;NP_056311;NP_892121;Q69YN4 Hs.202238 1643924;1654699;1657581;1668718;1697714;2135763;5014063;5016352;5016781;5019070;5020274;5020948;5111358 D15S1390;G35510;G44334;L18441;L30021;RH102375;RH12270;RH66688;SGC33910;SHGC-36249;SHGC-67307;STS-M78676;WI-14180 DKFZp434I116;DKFZp781B2117;MGC138493;MGC141940;MSTP054;fSAP121 OTTHUMP00000226675;OTTHUMP00000226679;functional spliceosome-associated protein 121;protein virilizer homolog protein-coding ENSG00000164944 HGNC:24500 10889 VALIDATED 1605976 KIAA1467 KIAA1467 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 12 12 12 p13.1 18346197 18385250 + 13197300 13236383 + 13044366 13083449 + 6480464;8554872 10819331;12477932;18029348;20379614;21906983;24250222 57613 A2RU67;Q69YM1 AB040900;ABBA01067857;AC023790;AK125278;AK294732;AL832902;AMYH02026067;AMYH02026068;BC030126;BC039267;BC132772;BC132774;CD172292;CH471094;CR936647;NM_020853;XM_005253450 A2RU67;AAH39267;AAI32773;AAI32775;BAA95991;BAC86111;BAG57879;CAH10631;CAI56785;EAW96298;NP_065904;XP_005253507 Hs.132660 1652593;1730151;1772350;1782696;5015619 A002U45;D11S3114;D12S112E;SHGC-155170;WI-10405 DKFZp781O012 OTTHUMP00000239416;OTTHUMP00000239417;hypothetical protein LOC57613;uncharacterized protein KIAA1467 protein-coding ENSG00000084444 HGNC:29288 11149 VALIDATED 1605655 KIAA1551 KIAA1551 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; copper atom 12 12 12 p11.21 11934148 11967834 + 32112353 32146041 + 31959419 31993107 + 6480464;8554872 10997877;12421765;12477932;14702039;17043677;17567985;20379614;21890473;22505724;8889548 55196 F5H488;J3KPI3;Q9HCM1 AB046771;ABBA01031730;AC016957;AC023050;AK000688;AK000703;AK001514;AK092399;AMYH02026289;AMYH02026290;AV750733;BC098115;BC114509;BC114956;BC140819;BM711484;BP872820;CA419041;CH471116;NM_018169;XM_005253405;XM_006719099 AAH98115;AAI14510;AAI14957;AAI40820;BAA91330;BAA91734;BAB13377;EAW88537;EAW88538;NP_060639;Q9HCM1;XP_005253462;XP_006719162 Hs.445129 1645374;1673498;2151641;2152678 A008O23;RH68096;SHGC-64117;WIAF-2210 C12orf35;FLJ10652;FLJ20696 OTTHUMP00000158617;hypothetical protein LOC55196;uncharacterized protein C12orf35;uncharacterized protein KIAA1551 APPROVED protein-coding ENSG00000174718 HGNC:25559 07691 VALIDATED 2292705 KIAA1549 KIAA1549 The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 7 7 7 q34 133253929 133358429 - 138516126 138666064 - 138831381 138981318 - 6480464;8554872 10997877;12421765;12477932;14702039;17118363;18974108;20379614;21555518;21696415;21963094;22157620;22591444;22814862;24255178;25268071 57670 Q9HCM3 AB046769;ABBA01001179;ABBA01001180;AC018663;AC083868;AC093144;AK021793;AK096022;AL136736;AM989467;AM989468;AM989469;AM989470;AM989471;AM989477;AMYH02016874;AMYH02016875;AMYH02016876;AMYH02016877;BC038232;BC069036;BC091523;CH236950;CR533444;KF458625;KF510280;NG_032965;NM_001164665;NM_020910;XM_006716071;XM_006716072 AAH38232;AAH91523;BAB13375;CAB66670;CAG38475;CAQ43105;CAQ43106;CAQ43107;CAQ43108;CAQ43109;CAQ43110;CAQ43116;NP_001158137;NP_065961;Q9HCM3;XP_006716134;XP_006716135 Hs.605380 1339795;1646037;1710614;1719825;1720693;1759167;1789524;1789530;2149140;2150542;5127907 D7S3184;D7S3187;D7S684;G31009;G59164;GDB:4584984;RH123605;RH48859;SHGC-151133;SHGC-152180;SHGC-84095 FLJ11731;FLJ38703;FLJ40644 OTTHUMP00000211716;OTTHUMP00000211809;UPF0606 protein KIAA1549;hypothetical protein LOC57670 protein-coding ENSG00000122778 HGNC:22219 613344 VALIDATED 1604377 KIAA1549L KIAA1549-like FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; atrazine; benzo[a]pyrene diol epoxide I 11 11 11 p13 33710111 33843151 + 33563877 33695648 + 33542331 33674102 + 6480464 11181995;12477932;14702039;15489334;16344560;16713569;18029348;20936779;21423239 25758 H0YDE5;Q12914;Q6ZVL6 ABBA01060884;ABBA01060885;ABBA01060886;AK094307;AK124395;AL049575;AL049629;AMYH02024571;AMYH02024572;AMYH02024573;AMYH02024574;BC025668;CH471064;DA034273;NM_012194;U10991;XM_005252847;XM_005252848 AAA21253;BAC85845;EAW68197;NP_036326;Q6ZVL6;XP_005252904;XP_005252905 Hs.502266 1660645;1665593;1713057;1724099;1744065;1858558;2107129;2122439;2128205;2131015;2149863;2155093;2160268 D11S1025;D11S1086;D11S1123;D11S2259E;D11S2392;D11S4005;G2__6766;GDB:385460;RH119048;RH120313;RH17994;RH78443;SHGC-30174 C11orf41;C11orf69;FLJ36988;G2;MGC34830 OTTHUMP00000197303;OTTHUMP00000232898;UPF0606 protein C11orf41;UPF0606 protein KIAA1549L;Uncharacterized protein C11orf69;hypothetical protein LOC25758 APPROVED protein-coding ENSG00000110427 HGNC:24836 612297 VALIDATED 1343071 KIAA1586 KIAA1586 ENCODES a protein that exhibits nucleic acid binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper atom; copper(0); hydrogen peroxide 6 6 6 p12.1 58574474 58583113 + 56911343 56920023 + 57046532 57055239 + 6480464;8554872 10997877;12477932;15146197;21890473;21906983;21963094;21987572 57691 B4DIC2;F5H2N6;Q9HCI6 AB046806;ABBA01050486;AK290988;AK295519;AL450489;AMYH02013783;BC012011;BC029372;BC041125;BF475674;BF699031;BG028983;CN359914;DC407946;NM_001286274;NM_001286275;NM_001286276;NM_020931 AAH29372;AAH41125;BAB13412;BAF83677;BAG58434;NP_001273203;NP_001273204;NP_001273205;NP_065982;Q9HCI6 Hs.709521 1698236;2169876;5017266 L18506;RH102654;STS-T91050 FLJ30162 OTTHUMP00000016662;hypothetical protein LOC57691;uncharacterized protein KIAA1586;uncharacterized protein LOC57691 protein-coding ENSG00000168116 HGNC:21360 17218 VALIDATED 1343416 KIAA1524 KIAA1524 INVOLVED IN positive regulation of neural precursor cell proliferation (inferred); spermatogenesis (inferred); FOUND IN cytoplasm; plasma membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 3 3 3 q13.13 106665331 106705415 - 108268716 108308491 - 108549869 108589644 - 1580863;6480464 10819331;11076863;11230166;11256614;12118381;12477932;14702039;15489336;16381901;17632056;18029348;18559589;19470954;19671842;19959630;20842459;20964854;21068540;21139048;21140243;21219591;21445343;21479604;21490338;21575984;21655278;21874565;21897396;21906983;21963094;21987572;22053931;22072119;22075943;22085493;22118674;22249265;22310977;22505724;22537152;22537901;22847158;22923389;23117818;23178652;23275123;23306062;23342256;23383273;23383345;23455633;23467938;23471718;23552692;23568706;23743567;23802697;23956138;23983103;24014087;24019920;24098375;24204027;24214971;24293411;24369732;24398514;24399648;24493623;24590173;24816145;24927563 57650 F8WAX6;F8WF26;Q8TCG1 AB040957;ABBA01061703;AC069499;AC092693;AF334474;AK022912;AK056933;AK308315;AK310446;AL713689;AMYH02007398;AMYH02007399;BC017659;BC063433;BC082961;BC130564;BC136371;CH471052;NM_020890;XM_005247682;XM_006713716;XM_006713717 AAH17659;AAH63433;AAI30565;AAI36372;AAL11632;BAA96048;BAB14305;CAD28489;CAL38128;EAW79723;EAW79724;NP_065941;Q8TCG1;XP_005247739;XP_006713779;XP_006713780 Hs.591308 CIP2A;FLJ12850;MGC163436;p90 OTTHUMP00000214434;OTTHUMP00000214435;cancerous inhibitor of PP2A;cancerous inhibitor of protein phosphatase 2A;p90 autoantigen protein-coding ENSG00000163507 HGNC:29302 11151 610643 VALIDATED 1602871 KIAA1522 KIAA1522 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenous acid; atrazine; diarsenic trioxide 1 1 1 p35.1 31476296 31509393 + 33207492 33240571 + 32741891 32774970 + 6480464;8554872 10819331;12477932;19531213;21139048;21988832;24255178;24550385 57648 Q9P206 AB040955;ABBA01023404;AC114489;AI587184;AK298965;AL713671;AL833933;AMYH02000718;BC020306;CH471059;NM_001198972;NM_001198973;NM_020888;XM_005271074;XM_006710791;XM_006710792 AAI56343;BAA96046;BAG61060;CAD28477;EAX07509;EAX07510;NP_001185901;NP_001185902;NP_065939;Q9P206;XP_005271131;XP_006710854;XP_006710855 Hs.591502 1643937;1666576;1854516;2185414 RH64745;SHGC-74542;SHGC-74565;STS-R16166 OTTHUMP00000009761;OTTHUMP00000037516;OTTHUMP00000037517;OTTHUMP00000228547;hypothetical protein LOC57648;uncharacterized protein KIAA1522 protein-coding ENSG00000162522 HGNC:29301 VALIDATED 8661508 KIAA1614-AS1 KIAA1614 antisense RNA 1 q25.3 24886442 103344928 AK026359 Hs.665319 RP11-46A10.4 protein-coding HGNC:50644 1605647 KIAA1614 KIAA1614 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q25.3 153989330 154022258 + 180882313 180920745 + 180913177 180946103 + 8554872 10997877;11181995;12805274;14702039;16344560 57710 Q5VZ46 AB046834;ABBA01027787;ABBA01027788;AK055739;AK090668;AL162431;AMYH02002254;AY270920;CH471067;DA410555;DA807788;NM_020950 BAB13440;BAG52210;EAW91089;EAW91090;NP_066001;Q5VZ46 Hs.734816 1747071;2181456;5109281 D11S1994;D1S1425;G64939 FLJ32095;RP11-46A10.3 OTTHUMP00000033135;OTTHUMP00000033136;hypothetical protein LOC57710;uncharacterized protein KIAA1614 protein-coding HGNC:29327 VALIDATED 1316306 KIAA1468 KIAA1468 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; disodium selenite; valproic acid 18 18 18 q21.33 56573751 56693583 + 59854506 59974355 + 62187273 62307122 + 737633;1580863;6480464;8554872 12477932 10819331;11973628;14702039;20379614;21139048;21890473;21963094;22863883;23000965;23383273 57614 B2RD46;Q96ES0;Q9P260 AA632129;AB040901;ABBA01056190;AC027514;AC090396;AK025228;AK091160;AK315400;AMYH02034866;BC011992;BX648481;CH471096;NM_020854;XM_005266730;XM_005266731;XM_005266732;XM_006722513;XM_006722514;XM_006722515;XR_245467 AAH11992;BAA95992;BAG37793;EAW63120;EAW63121;EAW63122;EAW63123;NP_065905;Q9P260;XP_005266787;XP_005266788;XP_005266789;XP_006722576;XP_006722577;XP_006722578 Hs.465323 1338043;2118024;7186192 D18S60;WI-21772 FLJ33841;HsT3308;HsT885 OTTHUMP00000163668;hypothetical protein LOC57614;lisH domain and HEAT repeat-containing protein KIAA1468 protein-coding ENSG00000134444 HGNC:29289 13866 VALIDATED 2303456 KIAA1644 KIAA1644 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; trichostatin A; valproic acid 22 22 22 28553938 28622910 - 44639545 44727470 - 44243665 44331590 - 6480464;8554872 11258795;12477932;14702039 85352 Q3SXP7 AB051431;ABBA01014596;ABBA01014597;ABBA01014598;AK090953;AL022339;AL031595;AL591914;AL671760;AMYH02038489;AMYH02038490;BC068280;BC104183;BC104184;CR933566;CR936470;CR936488;CU210860;KF457475;KF457477;NM_001099294;XM_005261790;XM_006724344 AAI04184;AAI04185;BAB33314;NP_001092764;Q3SXP7;XP_005261847;XP_006724407 Hs.6829 1677028;1677668;1681927;1719017;1757245;1764623;1778304;1781088;1803050;1821182;1825832;1826310;1829366;1831462;1831922;1839148;1841416;1845254;1845776;2012868;2012878;2012900;2012916;2012920;2012962;2012980;2012986;2012990;2012996;2013010;2013012;2013040;2013050;2013052;2013054;2013076;2013128;2098576;2098578;2098580;2098582;2098596;2098598;2117777;2183569 AL008652;AL021652;ECD02416;ECD11668;ECD14024;ECD14268;ECD15814;ECD16868;ECD17099;ECD20753;ECD21904;ECD23844;ECD24107;REN77363;REN77368;REN77379;REN77387;REN77389;REN77410;REN77420;REN77423;REN77425;REN77428;REN77435;REN77436;REN77450;REN77456;REN77457;REN77458;REN77472;REN77498;RH123214;RH81034;RH8149;RH93869;SHGC-144667;SHGC-148212;STS-H53358;stSG602680;stSG602681;stSG602682;stSG602683;stSG602690;stSG602691;stcN75B3T7 MGC125851;MGC125852 OTTHUMP00000028979;hypothetical protein LOC85352;uncharacterized protein KIAA1644 protein-coding ENSG00000138944 HGNC:29335 PREDICTED 8695876 KIAA1731NL KIAA1731 N-terminal like FOUND IN motile cilium (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dibutyl phthalate (ortholog) 17 17 q25 76886577 76899299 - 78887721 78903217 - 6480464 14702039;16344560 100653515 Q96MC4 ABBA01002914;AC100788;AK057217;AMYH02034075;CH471099;DB037087;NM_001243540;NM_001243541;XM_005256922;XM_006721631 BAB71383;EAW89542;NP_001230469;NP_001230470;XP_005256979;XP_006721694 Hs.734636 DDC8 differential display clone 8 protein-coding ENSG00000178404 HGNC:44659 VALIDATED 2311473 KIAA1671 KIAA1671 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; calcitriol; cytarabine 22 22 22 q11.23 9228329 9397741 + 25348676 25593415 + 24952708 25197448 + 6480464;8554872 11258795;12477932;14702039;15289310;16751776;21509594;21890473;24255178 85379 Q9BY89 AB051458;ABBA01055166;AI340196;AK025418;AK057551;AL022323;AL050312;AL832019;AMYH02038152;AMYH02038153;AMYH02038154;BC171801;BU584987;KF457387;NM_001145206;XM_005261793;XM_005261794;XM_006724346;Z99916 AAI71801;BAB33341;NP_001138678;Q9BY89;XP_005261850;XP_005261851;XP_006724409 Hs.419171 1685546;1732189;2144699;2151692;2151694;5093416;7184831 A002A20;A009O20;D22S1019E;D22S343;G19849;G32705 CTA-221G9.5;OTTHUMP00000198606;hypothetical protein LOC85379;uncharacterized protein KIAA1671 protein-coding ENSG00000197077 HGNC:29345 VALIDATED 1347565 KIAA1598 KIAA1598 ENCODES a protein that exhibits kinase binding (inferred); INVOLVED IN axon guidance (inferred); regulation of establishment of cell polarity (inferred); regulation of neuron migration (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN axonal growth cone (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; arsenous acid 10 10 10 q25.3 112373761 112494434 - 118642888 118886097 - 116883377 117126586 - 737633;6480464;8554872 12477932 10997877;12421765;14702039;16344560;16385451;17030985;17903304;18519736;19953087;20023658;20098747;20379614;21139048;21906983;22087225;22863734;22863883;22939629 57698 A0MZ66 AB046818;ABBA01062951;ABBA01062952;AC012308;AC023283;AK001984;AK091381;AK091410;AK091578;AK095419;AK095703;AK095709;AK302705;AK304865;AL157479;AL731557;AMYH02023876;AMYH02023877;AMYH02023878;AMYH02023879;AMYH02023880;BC022348;BC032303;BE348500;BE897523;BI086871;BX537593;BX648065;CH471066;CR749417;CX783645;DA241212;DC402821;DN993119;EF055487;H17869;NM_001127211;NM_001258298;NM_001258299;NM_001258300;NM_018330;XM_005270002;XM_006717931 A0MZ66;AAH22348;AAH32303;ABK56022;BAA92019;BAB13424;BAG52345;BAG52384;BAG53052;BAG53109;BAG53110;BAG65603;BAH13785;CAH18259;EAW49434;EAW49435;EAW49436;EAW49437;EAW49438;NP_001120683;NP_001245227;NP_001245228;NP_001245229;NP_060800;XP_005270059;XP_006717994 Hs.501140 1335681;1679239;1681550;1687349;1713599;1757243;2106127;2113102;2113954;2118397;2124323;2127154;2138625;2182195;5014051;5024543;7185199 AB046045;D10S1327E;D10S1608;D10S187;D10S2192;D10S2460;D1S3690;D6S2903;D8S2278;RH120672;RH68387;RH77773;RH93201;RH98760;SHGC-144664;WI-17869 DKFZp686A0439;MGC40476 OTTHUMP00000020573;shootin-1;shootin1 protein-coding ENSG00000187164 HGNC:29319 11155 611171 VALIDATED 1351264 KIAA1618 KIAA1618 ASSOCIATED WITH Moyamoya disease 2 (inferred) q25.3 7240710 10997877;12112524;12477932;14702039;15489334 57714 Q9H932 AB046838;AC123764;AC124319;AF397204;AF397205;AK023113;AL832920;BC035987;BC036891;BC040341;CH471099;NM_020954 AAH36891;AAH40341;AAN63520;AAN63521;BAB13444;BAB14411;CAH10615;EAW89593;EAW89594;NP_066005;Q9H932;Q9HCF4 Hs.514554 protein-coding HGNC:19047 11156 607151 1601920 KIAA1875 KIAA1875 The function and protein-coding potential of this gene is unknown. The exon combination is based on AB058778.1 for which two possible open reading frames can be predicted (with start codons at nucleotide 26 or 2614). The position of the first ORF stop codon is consistent with a prediction of nonsense-mediated decay. Given the observation of the first ORF and its length, a predicted translation of the second ORF is inconsistent with the translation leaky scanning theory. Therefore, this gene is represented as a non-protein-coding transcript. [provided by RefSeq, Oct 2008] 8 8 8 q24.3 141500152 141510742 + 145162629 145173218 + 144107726 144118315 + 11347906;14702039;16169070 340390 A6NE52;E9PKB8 AB058778;ABBA01005225;AC104592;AI567202;AK095597;AK124611;AK302485;AL137446;AMYH02018956;BI757563;NR_024207 A6NE52;BAB47504;BAC85899;BAG63770;CAB70740 Hs.98723 1689937;2124587 RH65611;RH79825 APPROVED ncrna ENSG00000179698 HGNC:26959 11168 VALIDATED 1321427 KIAA1919 KIAA1919 ENCODES a protein that exhibits symporter activity (inferred); INVOLVED IN carbohydrate transport (inferred); sodium ion transport (inferred); transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; valproic acid 6 6 6 q22 112327041 112336824 + 111580482 111590263 + 111259279 111269060 + 6480464 11572484;12477932;12590146;14702039;16344560;24250222 91749 B3KSA1;Q5TF39 AB067506;ABBA01026092;AF161363;AI096577;AI151460;AK093136;AK292735;AK315016;AL080317;AMYH02014303;BC036115;BG697347;CH471051;DB024559;DB027926;DB202540;NM_153369 AAF28923;AAH36115;BAB67812;BAF85424;BAG52663;EAW48296;NP_699200;Q5TF39 Hs.400572 5014051;5022200;5022450;5022651;5024039;5037552 D10S275;D11S2921;D16S325;D8S2278;D8S2279;L18426 MFSD4B;MGC33953;NaGLT1 OTTHUMP00000017021;sodium-dependent glucose transporter 1 protein-coding HGNC:21053 13904 VALIDATED 1353790 KIAA1683 KIAA1683 FOUND IN mitochondrion; nucleus; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene 19 19 19 p13.1 18269630 18287045 - 18367906 18385319 - 18257096 18274509 - 6480464 11076863;11214970;11230166;11256614;12477932;14702039;15302935;15489334;15489336;16189514;16344560;16381901;20379614;20800603;21139048 80726 A0JP07;Q9H0B3;U3KQG6;U3KQN7;V9GY12 AB051470;ABBA01051255;AC008397;AK057466;AK093064;AK095765;AK095771;AK302431;AL136867;AMYH02035729;BC034327;BC112932;BC127099;BC127100;BQ006839;CH471106;DB078391;DC403083;NM_001145304;NM_001145305;NM_025249;XM_005260084;XM_006722913 AAH34327;AAI12933;AAI27100;AAI27101;BAB21774;BAB71500;BAG63734;CAB66801;CAL37433;EAW84681;NP_001138776;NP_001138777;NP_079525;Q9H0B3;XP_005260141;XP_006722976 Hs.732366 1731377;1732095 D19S256;D19S460 MGC131731 uncharacterized protein KIAA1683 protein-coding ENSG00000130518 HGNC:29350 13882 VALIDATED 1322143 KIAA1958 KIAA1958 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; trichostatin A 9 9 9 q32 85748149 85921746 + 115249248 115427587 + 112486968 112665311 + 6480464;8554872 11853319;12477932;14702039;15164053;15302935;15489334;17081983;20379614;21693764 158405 Q8N8K9 AB075838;ABBA01042697;AI498819;AK056181;AK096613;AL162732;AL390067;AL445187;AMYH02021488;BC105048;BC113515;BC143372;BC143424;CH471105;NM_001287036;NM_001287038;NM_133465;XM_006716978 AAI05049;AAI13516;AAI43425;BAB71114;BAB85544;BAC04827;EAW59109;EAW59110;NP_001273965;NP_001273967;NP_597722;Q8N8K9;XP_006717041 Hs.656619 1646960;1662356;1677552;1679453;1695170;1735898;2133674;2154440;2176489 D9S1037E;D9S2072;G31003;G48225;RH48718;RH69993;RH92524;RH93310;WI-22223 FLJ39294;MGC142075 OTTHUMP00000021938;hypothetical protein LOC158405;uncharacterized protein KIAA1958 protein-coding ENSG00000165185 HGNC:23427 11173 VALIDATED 2289756 KIAA1755 KIAA1755 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH trichostatin A 20 20 20 q11.23 33547688 33597961 - 36838907 36889174 - 38210505 38260772 - 6480464;8554872 11214970;12477932;14702039;20379614;23583979 85449 Q5JYT7;Q5JYT8 AB051542;ABBA01006639;ABBA01006640;ABBA01006641;AK096202;AL031651;AMYH02037059;BC011516;BC029137;BC047031;CH471077;NM_001029864 BAB21846;EAW76037;EAW76038;EAW76039;NP_001025035;Q5JYT7 Hs.472690 1667484;1684702;2144853;2146250;2157580 D20S458;G18082;RH28471;Z94455;Z94470 RP5-1054A22.3 OTTHUMP00000030955;hypothetical protein LOC85449;uncharacterized protein KIAA1755 protein-coding ENSG00000149633 HGNC:29372 PREDICTED 9586122 KIAA2012 KIAA2012 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 2 2 q33.1 202937978 203061886 + 202073253 202205195 + 8554872 12477932;14702039;15489334;18951430 100652824 Q0VF49 AB095932;ABBA01062553;ABBA01062554;AC069148;AC079354;AK096380;AK295603;AK297413;AMYH02005555;AMYH02005556;AMYH02005557;BC118982;NM_001277372;XM_006712171;XM_006712172 AAI18983;BAC04773;BAC23108;BAG58490;BAH12574;NP_001264301;Q0VF49;XP_006712234;XP_006712235 Hs.686898;Hs.738013 uncharacterized protein KIAA2012 protein-coding ENSG00000182329 HGNC:51250 VALIDATED 1323819 KIAA1715 KIAA1715 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN blood coagulation (inferred); embryonic digit morphogenesis (inferred); embryonic forelimb morphogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum membrane; INTERACTS WITH hydrogen peroxide; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q31 170399546 170476159 - 176790410 176867018 - 175925682 176002839 - 6480464;8554872 11214970;12477932;12732147;14702039;15489334;17081983;17353931;19322201;21890473;22699663;22729086;23251661;24223779;24816145 80856 B7Z829;C9JL94;C9JM95;H7BZA1;Q9C0E8 AB051502;ABBA01062212;ABBA01062213;AC016751;AC016915;AK056532;AK096916;AK301947;AK302833;AL832947;AMYH02005296;BC031530;BC064661;BC105132;BC105134;BC110329;BC143681;BC143683;BG702450;CH471058;CR936742;NM_030650;XM_005246878;XM_005246879;XM_005246880;XM_006712783 AAH31530;AAI05133;AAI05135;AAI10330;AAI43682;AAI43684;BAB21806;BAB71207;BAH13591;BAH13815;CAH56306;EAX11098;EAX11099;NP_085153;Q9C0E8;XP_005246935;XP_005246936;XP_005246937;XP_006712846 Hs.209561 1298319;1676196;1681548;1707858;1734934;1747095;2151562;5015961 AI666268;D15S1477;D2S1697E;D2S1983;D2S2314;RH48765;RH80932;SHGC-82164 DKFZp686G1442;LNP;LNP1;MGC102862;Ul 2310011O18Rik;4921514L11Rik;Lunapark;OTTHUMP00000205099;limb and neural patterns;ulnaless protein-coding HGNC:21610 13886 610236 VALIDATED 1603497 KIAA2022 KIAA2022 An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked mental retardation.[provided by RefSeq, Mar 2009] X X X q13.3 74236153 74428748 - 73952691 74145287 - 74732856 74925452 - 6480464;8699517;8554872;7240710 12477932;15466006;15772651;16344560;18029348;20811636;22531377;23615299;24071057 340533 H7C2N8;Q5QGS0 AB095942;ABBA01059504;ABBA01059505;ABBA01059506;ABBA01059507;ABBA01059508;ABBA01059509;ABBA01059510;ABBA01059511;ABBA01059512;ABBA01059513;ABBA01059514;ABBA01059515;ABBA01059516;ABBA01059517;ABBA01059518;ABBA01059519;ABBA01059520;ABBA01059521;ABBA01059522;ABBA01059523;ABBA01059524;ABBA01059525;AI167637;AK128651;AK307471;AL139395;AL390035;AMYH02039783;AMYH02039784;AY563507;BC038798;BC152557;CH471104;DA776009;NG_027726;NM_001008537;XM_006724645;XM_006724646 AAI52558;AAI67807;AAT67985;BAC23118;EAW98638;NP_001008537;Q5QGS0;XP_006724708;XP_006724709 Hs.124128 1337269;1341445;1654208;1654986;1679095;1767250;2141366;2148939;2161650;2172355 A002N28;A006V02;AF020127;AF020169;DXS7722;DXS8037;DXS8092;G35474;RH18195;RH36660 MRX98;XPN OTTHUMP00000023576;XLMR protein related to neurite extension;XLMR-related protein, neurite extension;hypothetical protein LOC340533;uncharacterized protein KIAA2022 APPROVED protein-coding ENSG00000050030 HGNC:29433 15957 300524;300912 VALIDATED 1323134 KIAA2026 KIAA2026 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; valproic acid 9 9 9 p24.1 5856503 5945514 - 5919008 6008479 - 5919008 6008479 - 6480464;8554872 12477932;14702039;15164053;16713569;20936779;22118674;24211586;24250222 158358 F5H4E5;H0YFF4;H0YGV4;Q5HYC2 AB095946;ABBA01065405;ABBA01065406;ABBA01065407;AL162384;AL353606;AL365360;AL833370;AMYH02019089;BC136846;BX648372;CH471071;DY655479;NM_001017969;XM_005251385;XM_006716730 AAI36847;BAC23122;CAI45993;EAW58754;NP_001017969;Q5HYC2;XP_005251442;XP_006716793 Hs.535060 1663918;1732135;2186701 D9S1645;NIB1019;SHGC-53633 OTTHUMP00000239409;OTTHUMP00000239411;putative uncharacterized protein ENSP00000382813;uncharacterized protein KIAA2026 protein-coding ENSG00000183354 HGNC:23378 18566 PROVISIONAL 1602969 KIAA2018 KIAA2018 ENCODES a protein that exhibits calcium ion binding (inferred); DNA binding (inferred); mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane (inferred); nucleus (inferred); INTERACTS WITH (+)-catechin; aflatoxin B1; crotonaldehyde 3 3 3 q13.2 111775805 111824038 - 113367232 113415493 - 113648385 113696646 - 6480464;8554872 11181995;20936779;22504420;23535732 205717 C9JBW0;Q68DE3 AB095938;ABBA01061651;AC055740;AC108693;AMYH02007452;AMYH02007453;BC043383;BX537728;CH471052;CR749439;KF457673;NM_001009899;NR_111981;XM_005247208;XM_005247209 BAC23114;CAD97821;CAH18277;EAW79632;NP_001009899;Q68DE3;XP_005247265;XP_005247266 Hs.632570 1652557;1686710;1708524;1734262;1856879;2111218;2145535;2154043;2154373;5020946;5024413;5037552 A003P34;A004O36;D3S2753E;D3S430;D8S2279;L17877;L17971;RH93538;SGC33336;SHGC-59898;SHGC-77185;SHGC-85037 DKFZp781O0144 K06A9.1-like;OTTHUMP00000214838;OTTHUMP00000214839;basic helix-loop-helix domain-containing protein KIAA2018;hypothetical protein LOC205717 protein-coding ENSG00000176542 HGNC:30494 13912 VALIDATED 1602668 KIAA2013 KIAA2013 ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH copper(2+) sulfate; paracetamol; cadmium dichloride (ortholog) 1 1 1 p36.22 11093784 11100143 - 11979645 11986485 - 11919588 11926428 - 6480464;8554872 12477932;15146197;19322201;19946888;21906983;22190034;22939629 90231 Q8IYS2 AB095933;ABBA01003062;AL021155;AL096840;AL833697;AL833891;AMYH02000303;BC004501;BC035033;CH471130;CN260339;NM_138346;XM_005263531 AAH04501;AAH35033;BAC23109;CAD38747;EAW71720;EAW71721;EAW71722;EAW71723;NP_612355;Q8IYS2;XP_005263588 Hs.520094 1656053;1675100 SHGC-32783;SHGC-74227 MGC33867;RP5-1077B9.1 OTTHUMP00000002508;uncharacterized protein KIAA2013 protein-coding ENSG00000116685 HGNC:28513 14576 VALIDATED 1601734 KIAA1804 mixed lineage kinase 4 ENCODES a protein that exhibits protein homodimerization activity (ortholog); INVOLVED IN activation of JUN kinase activity (ortholog); protein autophosphorylation (ortholog); protein phosphorylation (ortholog); PARTICIPATES IN c-Jun N-terminal kinases MAPK signaling pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; calcitriol 1 1 1 q42 206733713 206791106 + 233463514 233520894 + 233327768 233385148 + 2293875;6480464;8554872 17306896 11347906;12477932;16710414;18029348;20936779;21441570;21602844;22699663;23319808;24255178 84451 Q5TCX8 AB058707;ABBA01033075;AJ311797;AJ311798;AL133380;AMYH02002912;BC136648;BC136649;CH471098;NM_032435 AAI36649;AAI36650;BAB47433;CAC84639;CAC84640;EAW69987;EAW69988;NP_115811;Q5TCX8 Hs.547779 1680499;1705388 RH93433;SHGC-83555 MLK4;RP5-862P8.2;dJ862P8.3 OTTHUMP00000036006;mitogen-activated protein kinase kinase kinase;mitogen-activated protein kinase kinase kinase MLK4 APPROVED protein-coding ENSG00000143674 10087 614793 VALIDATED 1606998 KIAA1841 KIAA1841 ENCODES a protein that exhibits DNA binding (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; aflatoxin B1 (ortholog) 2 2 2 q14 61136600 61208762 + 61293005 61365169 + 61065870 61138034 + 6480464 11347906;12477932;16344560;19240061;21832049;22412388;23128233;23602568 84542 F8VWD7;F8VY72;Q6NSI8 AB058744;ABBA01075343;ABBA01075344;ABBA01075345;ABBA01075346;AC016747;AK131267;AK309749;AL833595;AMYH02003917;AMYH02003918;AMYH02003919;AW088127;BC039298;BC070104;BX647395;CA421892;CH471053;DA222969;DB086916;DB090584;NM_001129993;NM_032506;XM_005264605;XM_005264606;XM_005264607 AAH39298;AAH70104;BAB47470;BAD18445;EAX00013;EAX00014;EAX00015;EAX00016;NP_001123465;NP_115895;Q6NSI8;XP_005264662;XP_005264663;XP_005264664 Hs.468653 1339092;1727445;1759767;1846861;1857899;5015961;5022578;5022651;5037552;5096013 D11S2921;D15S1477;D1S1423;D2S2332;D2S2927;D8S2279;G33174;G62980;HSC0PG092;SHGC-150972 MGC39557 OTTHUMP00000159790;OTTHUMP00000201313;uncharacterized protein KIAA1841 protein-coding ENSG00000162929 HGNC:29387 13896 VALIDATED 1346274 KIF11 kinesin family member 11 This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008] 10 10 10 q24.1 88094332 88156664 + 94352825 94415152 + 92593068 92655395 + 1580863;6480464;8699517;7240710;8554872 11328809;11416179;12477932;14517947;14527417;14718566;15024728;1505978;15164054;15247293;15489334;15665380;15858821;16115880;16341674;16344560;16385451;16434397;16565220;16604065;16642039;16969080;16969126;17014086;17062577;17101792;17251189;17293876;17562024;17643375;17707232;17827400;17971426;17999913;18003639;18029348;18037705;18212765;18503753;18512732;18640125;18669648;18679583;18806799;18845538;19001501;19322201;19545421;19615732;19619321;19793049;19802393;19824700;19862325;19896928;19946888;19951065;19996280;20018897;20154092;20299460;20404347;20508983;20558732;21106837;21139048;21148480;21151955;21449971;21490949;21522128;21525035;21566458;21642957;21782324;21795388;21906983;21963094;22261065;22268729;22284827;22343406;22353549;22505724;22506066;22552964;22653704;22832270;22939629;22993085;23000965;23036584;23184937;23368718;23371254;23398456;23402259;23444224;23643362;23658017;23751065;23857769;24145034;24488929;24732354;24816145;25027693;7776974;8548803;9235942;9701554 3832 P52732;Q59GZ5 AA504625;AA857025;AB208964;ABBA01021897;ABBA01021898;ABBA01021899;AK314258;AL356128;AL360222;AMYH02023542;BC050421;BC050667;BC126211;BC136474;BM742618;CH471066;CS174237;CU446438;DB078134;JA417644;L40372;NG_032580;NM_004523;U37426;X85137 AAA86132;AAC41739;AAI26212;AAI36475;BAD92201;BAG36923;CAA59449;CAJ34547;CCD32721;EAW50089;NP_004514;P52732 Hs.8878 1337750;1668257;1759115;1766803;2122049 D10S583;RH68796;SHGC-151124;SHGC-152149;STS-U37426 EG5;HKSP;KNSL1;MCLMR;TRIP-5;TRIP5 OTTHUMP00000020099;TR-interacting protein 5;kinesin-like 1;kinesin-like protein 1;kinesin-like protein KIF11;kinesin-like spindle protein HKSP;kinesin-related motor protein Eg5;thyroid receptor interacting protein 5;thyroid receptor-interacting protein 5 APPROVED protein-coding ENSG00000138160 HGNC:6388 01023 148760;152950 REVIEWED 732181 KIDINS220 kinase D-interacting substrate, 220kDa ENCODES a protein that exhibits PDZ domain binding (ortholog); INVOLVED IN cellular response to nerve growth factor stimulus (ortholog); cytoplasmic transport (ortholog); nerve growth factor signaling pathway (ortholog); PARTICIPATES IN neurotrophic factor signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; late endosome (ortholog); protein complex (ortholog); INTERACTS WITH (+)-catechin; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 2 2 2 p24 8783597 8892394 - 8865295 8977755 - 8728857 8837625 - 6480464;6907045;8554872 10574462;10998417;11150334;12477932;14702039;14971036;15167895;15378608;16169070;16284401;16344560;17079733;18048355;18089783;18501627;18539593;19738201;19946888;20195357;21139048;21343931;21381019;21507922;21697133;21890473;21906983;21963094;22053931;22562556;22609016;23000965;23118350;23333500;23359496;23999075;24639526;9069267 57498 E9PH70;F8WAY8;H0Y8E4;H7C584;Q7Z322;Q9ULH0 AB033076;AB621829;ABBA01015572;ABBA01015573;AC012495;AI088931;AK022873;AK023926;AK025528;AK057125;AK074254;AK294464;AK294832;AK295358;AK296459;AL133620;AL137553;AMYH02003243;AMYH02003244;AX463779;BC039409;BC094714;BC130610;BX538189;BX640878;CH471053;DA507846;KJ812119;KJ812120;KJ812121;NM_020738 AAH94714;AAI30611;AIJ27493;AIJ27494;AIJ27495;BAA86564;BAB14285;BAB14728;BAG57695;BAG57942;BAG58324;BAG59106;BAK64164;CAB63746;CAB70807;CAD42170;CAD98059;CAE45935;EAX01014;EAX01015;EAX01016;NP_065789;Q9ULH0 Hs.9873 1680098;1715461;1730287;1771592;2120900;7184896;7187105 D2S184E;D2S2504;RH120895;RH64923;WI-18247 ARMS;MGC163482 OTTHUMP00000200338;OTTHUMP00000214111;OTTHUMP00000214113;OTTHUMP00000214115;OTTHUMP00000214116;ankyrin repeat-rich membrane spanning;ankyrin repeat-rich membrane-spanning protein;kinase D-interacting substrate of 220 kDa;truncated KIDINS220 protein-coding ENSG00000134313 HGNC:29508 17235 615759 VALIDATED 1318282 KIF12 kinesin family member 12 KIF12 is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that play important roles in intracellular transport and cell division (Nakagawa et al., 1997 [PubMed 9275178]).[supplied by OMIM, Mar 2008] 9 9 9 q32 87501219 87508638 - 116853903 116861600 - 114091623 114099320 - 1580863;6480464 12477932;15164053;15489334;15643526;19056867;20237496;22889924;9275178 113220 B1ALC3;Q96FN5;R4GN27 ABBA01042678;AL137850;AMYH02021515;BC010626;BC036824;CH471090;NM_138424;XM_005251683;XM_005251684;XM_005251685;XM_005251686;XM_005251687;XM_006716947;XR_242565;XR_242566;XR_428514 AAH10626;EAW87405;EAW87406;EAW87407;EAW87408;EAW87409;EAW87410;NP_612433;Q96FN5;XP_005251740;XP_005251741;XP_005251742;XP_005251743;XP_005251744;XP_006717010 Hs.28149 1847404;2172644;2191099 A008C07;MARC_14577-14578:1009483106:1;RH78789 RP11-56P10.3 OTTHUMP00000021965;OTTHUMP00000021966;kinesin-like protein KIF12 APPROVED protein-coding ENSG00000136883 HGNC:21495 13914 611278 PROVISIONAL 1349792 KIF13B kinesin family member 13B ENCODES a protein that exhibits 14-3-3 protein binding; protein kinase binding; INVOLVED IN regulation of axonogenesis; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN axon; cytoplasm; INTERACTS WITH aflatoxin B1; arsenous acid; benzo[a]pyrene 8 8 8 p12 27884538 28080223 - 28924795 29120610 - 29067278 29263303 - 1580863;6480464;8554872 10859302;12477932;12496241;16147992;16344560;16864656;17696365;19094064;19615732;20194617;20201926;20339536;20379614;20811636;21057110;21145461;23319000;23934736;24324551;24816145;9734811 23303 E5RK06;E7ERX9;F2Z2F9;H0YBA8;Q9NQT8 AB014539;ABBA01005614;ABBA01005615;AC084262;AC103830;AC108449;AF279865;AI760125;AK000240;AK129580;AK294837;AK307848;AL583912;AMYH02017694;AMYH02017695;AMYH02017696;BC005977;BC014350;BC028056;BC051859;CH471080;DA068190;DA437040;NM_015254;XM_005273458;XM_005273459;XM_006716316;XM_006716317 AAF81263;AAH05977;AAI72411;BAA31614;BAG57946;CAC29496;EAW63486;EAW63487;EAW63488;EAW63489;EAW63490;EAW63491;NP_056069;Q9NQT8;XP_005273515;XP_005273516;XP_006716379;XP_006716380 Hs.444767 1647870;1653704;1667271;1671720;1689288;1697898;1718893;1720651;1721527;1747855;1760305;1856893;1857137;1858030;2116057;2137063;2169605;2174498;2174586;5022014;5093634 A008Q36;A009U09;G32834;G59135;G59618;G66850;KIF13B;RH102477;RH123152;RH45199;RH77858;RH92687;SHGC-132937;SHGC-3342;SHGC-36290;SHGC-52529;SHGC-5760;SHGC-5779;WI-14186;WI-16549;WI-21790 KIAA0639 GAKIN;OTTHUMP00000225649;guanylate kinase associated kinesin;kinesin 13B;kinesin-like protein GAKIN;kinesin-like protein KIF13B protein-coding ENSG00000197892 HGNC:14405 09556 607350 VALIDATED 1352766 KIF18A kinesin family member 18A KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008] 11 11 11 p14.1 28188055 28275612 - 28042163 28129746 - 28020616 28108199 - 737633;1580863;6480464;8554872 12477932 11076863;11230166;11256614;14702039;15231748;15489334;15489336;15878648;16344560;16381901;16565220;17006958;17346968;18029348;18267093;18680169;19625775;20153196;20595236;21139048;21213216;21231887;21884977;21885282;22104080;22595673;22623531;23288039;23746518;24250222 81930 Q4G194;Q8NI77 AB062483;ABBA01060959;ABBA01060960;ABBA01060961;AC023206;AC090159;AK093850;AK312576;AL136819;AMYH02024509;AMYH02024510;AW770226;AY791349;BC026090;BC035917;BC048347;CH471064;DB080843;NM_031217 AAH26090;AAH48347;AAX16185;BAB93508;BAG35470;CAB66753;CAL37983;EAW68271;NP_112494;Q8NI77 Hs.301052 1727981;1761181;1771724 G02275;G63410;SHGC-145194 DKFZp434G2226;MS-KIF18A;PPP1R99 OTTHUMP00000232145;kinesin-like protein KIF18A APPROVED protein-coding ENSG00000121621 HGNC:29441 11177 611271 VALIDATED 2292085 KIF18B kinesin family member 18B ENCODES a protein that exhibits kinesin binding; motor activity; INVOLVED IN metabolic process; microtubule depolymerization; mitotic cell cycle; ASSOCIATED WITH Melanoma (inferred); FOUND IN astral microtubule; cytoplasm; microtubule plus-end; INTERACTS WITH cadmium atom; calcitriol; cobalt dichloride 17 17 17 q21.31 39713954 39735621 - 43002079 43025079 - 44924711 44947711 - 6480464;8554872 12477932;16084724;18029348;20600703;21252943;21737685;21820309;21906983 146909 Q6NWY8;Q86Y91 ABBA01028341;AC015936;AMYH02033503;AMYH02033504;BC044933;BC048263;BC067365;BC136590;BC144271;BX405609;GU808359;NM_001264573;NM_001265577;XM_005257077 AAH44933;AAH67365;AAI36591;AAI44272;ADE43428;NP_001251503;NP_001252506;Q86Y91;XP_005257134 Hs.135094 1338337;1699196;5014051;5016478;5020948;5022200;5022578;5037552 D17S1804;D1S1423;D8S2278;D8S2279;G35510;GDB:434012;L18426;RH103178 kinesin-like protein KIF18B protein-coding ENSG00000186185 HGNC:27102 614570 VALIDATED 1603919 KIF19 kinesin family member 19 ENCODES a protein that exhibits plus-end-directed microtubule motor activity (ortholog); INVOLVED IN axonemal microtubule depolymerization (ortholog); metabolic process (ortholog); plus-end specific microtubule depolymerization (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cilium (ortholog); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); lead diacetate (ortholog); valproic acid (ortholog) 17 17 17 q25.1 68915068 68944681 + 72322351 72351959 + 74326212 74355820 + 6480464;8554872 11416179;12477932;14702039;15489334;16344560;16625196;20379614 124602 F8VW50;Q2TAC6 AA527573;ABBA01028841;AC103809;AK094619;AMYH02033975;AW014742;AW339468;BC026362;BC067749;BC093631;BC104852;BC110989;BC143327;BE219924;CH471099;DA955730;NM_153209;XM_005257029;XM_005257030 AAH93631;AAI04853;AAI10990;AAI43328;BAC04386;EAW89150;EAW89151;EAW89152;EAW89153;NP_694941;Q2TAC6;XP_005257086;XP_005257087 Hs.372773 5015810 GDB:182516 FLJ37300;KIF19A OTTHUMP00000198270;OTTHUMP00000241745;kinesin-like protein KIF19 protein-coding ENSG00000196169 HGNC:26735 08782 VALIDATED 1344438 KIF17 kinesin family member 17 ENCODES a protein that exhibits ATP binding (inferred); microtubule binding (inferred); INVOLVED IN protein complex localization (inferred); protein transport (inferred); vesicle-mediated transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); intraciliary transport particle B (inferred); microtubule (inferred); INTERACTS WITH amiodarone; benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p36.12 19316276 19370087 - 20990475 21044317 - 20663981 20718017 - 1580863;6480464;8554872 10718198;10846156;12477932;12493914;12514209;14673085;15489334;16710414;16713569;18976975;19679349;20378615;20379614;20530208;20646681;20696710;24072717;24816145;9427749 57576 Q9P2E2 AB037826;AB290162;ABBA01059790;ABBA01059791;ABBA01059792;ABBA01059793;ABBA01059794;AF009624;AL391357;AL663074;AMYH02000433;AY484427;BC036871;BC040639;BC065927;BX387401;CH471134;NM_001122819;NM_001287212;NM_020816;XM_005245950;XM_005245951;XR_241202 AAD01428;AAH36871;AAH65927;AAR33039;BAA92643;BAG06716;EAW94941;EAW94942;EAW94943;EAW94944;EAW94945;EAW94946;NP_001116291;NP_001274141;NP_065867;Q9P2E2;XP_005246007;XP_005246008 Hs.130411 1764657;2033334;2120324 REN87674;SHGC-148244;SHGC-74334 KIAA1405;KIF17B;KIF3X;KLP-2;OSM-3 KIF17 variant protein;KIF3-related motor protein;OTTHUMP00000002887;OTTHUMP00000179076;OTTHUMP00000179077;kinesin-like protein KIF17 protein-coding ENSG00000117245 HGNC:19167 10388 605037 VALIDATED 1351410 KIF15 kinesin family member 15 ENCODES a protein that exhibits ATP binding (inferred); DNA binding (inferred); microtubule binding (inferred); INVOLVED IN antigen processing and presentation of exogenous peptide antigen via MHC class II (inferred); blood coagulation (inferred); cell proliferation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 3 3 3 p21.31 44741197 44832714 + 44803209 44894748 + 44761715 44853256 + 1580863;6480464;8554872 10878014;12477932;12747765;14702039;16169070;19818618;19818619;19946888;21139048;22024925;22863883;23791727;24419385;24816145 56992 C9JKA9;D6RCT7;F8WC33;H7BZT2;H7C1K7;Q9NS87 AB035898;ABBA01024735;ABBA01024736;ABBA01024737;AC098649;AF308294;AK027816;AK098533;AK307674;AL832908;AMYH02006651;BC117174;BC143752;CH471055;DR005852;NM_020242;XM_005265328;XM_006713261;XM_006713262;XM_006713263;XM_006713264;XM_006713265 AAG48261;AAI17175;BAB03309;BAB55389;CAH10635;EAW64724;NP_064627;Q9NS87;XP_005265385;XP_006713324;XP_006713325;XP_006713326;XP_006713327;XP_006713328 Hs.658939 1656208;1753601;2139797 G29224;SHGC-107507;SHGC-76903 FLJ25667;HKLP2;KNSL7;NY-BR-62 OTTHUMP00000209709;OTTHUMP00000209753;kinesin-like 7;kinesin-like protein 2;kinesin-like protein 7;kinesin-like protein KIF15;serologically defined breast cancer antigen NY-BR-62 protein-coding ENSG00000163808 HGNC:17273 10037 VALIDATED 1317245 KIF13A kinesin family member 13A This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 6 6 6 p23 18998685 19225796 - 17759414 17987864 - 17759183 17987632 - 1580863;6480464;8554872 10777215;11106728;11374900;11861365;12477932;14574404;15231748;16964243;17474147;18391951;19094064;19328558;19841135;19841138;20208530;20360746;20379614;20798811;21873978;22219177;22863883;24462287;24859087;8125298;8889548;8889549 63971 H0Y307;H0Y925;H0Y9Z7;Q9H1H9 AA037612;ABBA01022227;ABBA01022228;ABBA01022229;AI080622;AJ291578;AJ291579;AK025303;AK225214;AL023807;AL138724;AMYH02013207;AMYH02013208;AMYH02013209;AMYH02013210;AMYH02013211;AMYH02013212;AMYH02013213;AW296537;AY014403;AY014404;BC001730;BC023613;BC062673;BC127115;BC127116;BG481524;BQ184768;CA308223;CH471087;NG_029766;NM_001105566;NM_001105567;NM_001105568;NM_001243423;NM_022113;XM_005249289;XM_005249290;XM_005249291;XM_005249292;XM_005249293;XM_005249294;XM_006715166;XM_006715167 AAG38890;AAG38891;AAI27116;AAI27117;BAB15107;CAC20442;CAC20443;EAW55387;EAW55388;EAW55389;EAW55390;EAW55391;NP_001099036;NP_001099037;NP_001099038;NP_001230352;NP_071396;Q9H1H9;XP_005249346;XP_005249347;XP_005249348;XP_005249349;XP_005249350;XP_005249351;XP_006715229;XP_006715230 Hs.94499 1649773;1661144;1669976;1709080;1715513;1716591;1718495;1722045;1775991;2138050;2150686;2151249;2180637;2185077;2185552;2190387;2190401;5101863 D6S2150;D6S2194;G59909;HSC232_(EPM2B-1);HSC239_(TCAG-20);IB623;RH120979;RH121641;RH122450;RH12679;RH142898;RH16245;RH66449;RH66699;SHGC-58230;SHGC-85690;STS-N32528;WIAF-1541 FLJ27232;RBKIN;bA500C11.2 OTTHUMP00000016071;OTTHUMP00000016072;OTTHUMP00000221508;OTTHUMP00000221519;homolog of mouse KIF13A mannose-6-phosphate receptor transporter;kinesin-like protein KIF13A;kinesin-like protein RBKIN APPROVED protein-coding ENSG00000137177 HGNC:14566 09256 605433 REVIEWED 731799 KIF1C kinesin family member 1C The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014] 17 17 17 p13.2 4916054 4946508 + 4901243 4931694 + 4997948 5028399 + 1580863;6480464;7240710;8699517;8554872 10559254;12477932;15489334;16554367;16964243;17081983;17273843;17979178;19608861;19996280;20360068;20360680;21139048;21988832;23125841;23237952;23251661;24255178;24319291;24482476;24808017;9685376;9734811 10749 I3L1B1;O43896 AB014606;ABBA01054788;ABBA01054789;ABBA01054790;AC004771;AC012146;AK307401;AMYH02032838;BC025365;BC034993;BC040307;BM458656;CH471108;NG_034137;NM_006612;U91329;XM_005256424 AAC52117;AAH34993;BAA31681;EAW90366;EAW90367;EAW90368;EAW90369;NP_006603;O43896;XP_005256481 Hs.435120 1682770;1736953;2109453;5016478;5021872;5022651 D11S2921;D17S1580;GDB:434012;KIF1C_9173;RH98900;sY3084 KIAA0706;LTXS1;SATX2;SAX2;SPAX2;SPG58 OTTHUMP00000125303;kinesin 1c;kinesin-like protein KIF1C;spastic ataxia 2 (autosomal recessive) protein-coding ENSG00000129250 HGNC:6317 04342 603060;611302 REVIEWED 1321678 KIF14 kinesin family member 14 KIF14 is a member of the kinesin superfamily of microtubule-associated motors (see MIM 148760) that play important roles in intracellular transport and cell division (Nakagawa et al., 1997 [PubMed 9275178]).[supplied by OMIM, Mar 2008] 1 1 1 q32.1 173643207 173712428 - 200520625 200589862 - 200551497 200620734 - 1580863;6480464;8554872 12477932;15897902;16431929;16570270;16648480;16820410;17081983;17099872;17203973;17545527;17962437;19123481;19190782;19509238;19596686;19609547;19946888;20306291;20309963;20360068;21139048;21618518;21890473;22586326;22999822;23209302;23414349;23479679;23626713;24255178;24657165;24816145;24854087;7584044;9275178 9928 Q15058 ABBA01027551;AL445483;AMYH02002466;AMYH02002467;BC098582;BC113742;BC144068;CH471067;CQ971990;D26361;HH961790;NM_014875 AAH98582;AAI13743;ADR83299;BAA05392;CAI40582;CBX51368;EAW91315;EAW91316;EAW91317;NP_055690;Q15058 Hs.3104 1649107;1680996;1682301;1755135;2109449;2138704;2152282;2167864;5015619;5022450 AL009312;D10S275;D11S3114;D1S3715;KIF14__6511;RH17402;RH26491;RH93685;SHGC-142061;SHGC-35462 KIAA0042;MGC142302 OTTHUMP00000033836;kinesin-like protein KIF14 APPROVED protein-coding ENSG00000118193 HGNC:19181 06605 611279 VALIDATED 1317032 KIF20A kinesin family member 20A ENCODES a protein that exhibits protein kinase binding; INVOLVED IN microtubule bundle formation; FOUND IN spindle; INTERACTS WITH (S)-colchicine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 5 5 5 q31 133635706 133644693 + 137514408 137523404 + 138178724 138187715 + 1580863;6480464 10233894;10806357;10893188;11060022;11071909;11076863;11416179;12469216;12477932;12939256;15263015;15489334;15489336;15665285;16381901;16565220;17081983;19303298;20360068;21139048;21890473;21906983;21963094;21988832;22053931;22797925;22854760;22887948;23000965;23750214;24457600;9438855 10112 D6R9E4;D6RBN1;H0YAC9;O95235 ABBA01068692;AC106752;AC109442;AF070672;AF153329;AK024804;AK025790;AK296879;AMYH02012284;BC012999;CH471062;DC402781;HH961754;JA885917;JA886351;JA886785;JA887219;JB234916;JB243616;JB254231;JB257204;JB264125;JB276745;JB311556;JB313846;JB318840;JB359905;JB819640;JB820074;NM_005733;XM_006714514 AAC83230;AAD37806;AAH12999;BAG59441;CAL37661;CBX51350;CCQ77691;CCQ77700;CCQ77709;CCQ77718;CDH48197;CDH61619;CDH61673;CDH61692;CDH88990;CDH92528;CDH92542;CDH92553;CDH92800;CDH92897;CDI44672;CDI44681;EAW62157;EAW62158;NP_005724;O95235;XP_006714577 Hs.718626 1669521;1674948;1678153;1775568;2109455 KIF20A_9042;RH48412;RH48651;RH91186;WI-14323 FLJ21151;GG10_2;MKLP2;RAB6KIFL OTTHUMP00000159481;OTTHUMP00000223777;RAB6 interacting, kinesin-like (rabkinesin6);kinesin-like protein KIF20A;mitotic kinesin-like protein 2;rab6-interacting kinesin-like protein;rabkinesin-6 protein-coding ENSG00000112984 HGNC:9787 09292 605664 VALIDATED 1323577 KIF22 kinesin family member 22 The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 16 16 16 p11.2 72979553 72994211 - 29801383 29816706 + 29790062 29805385 + 1580863;6480464;8699517;8554872;7240710 10493829;10966104;10966105;11146551;11416179;11564754;12477932;12606572;12692123;12727876;12805422;15489334;16169070;16176979;16565220;17474147;17726374;18029348;18268099;18329364;19321445;19454010;19471022;20144232;20309963;21139048;21890473;21906983;21963094;22152677;22152678;22505724;23222517;23275563;24626146;8125298;8146198;8599929;9685418;9790757 3835 B7Z9T5;H3BQB9;H3BRB3;H3BTH5;I3L306;Q14807 AB017335;AB017430;ABBA01013118;AC002301;AC009133;AC243914;AK223431;AK294380;AK297893;AK312234;AK316050;AK316389;BC004352;BC028155;BT007259;CH471238;DC370294;L29095;L29096;NG_032055;NM_001256269;NM_001256270;NM_007317;XR_243280 AAA59960;AAA59961;AAC08709;AAC08711;AAC08712;AAH04352;AAH28155;AAP35923;ABM81697;ABM84578;ABM84858;ABM86755;BAA33019;BAA33063;BAD97151;BAG35167;BAG60214;BAH11751;BAH14421;BAH14760;EAW80004;EAW80005;EAW80006;EAW80007;EAW80008;EAW80009;EAW80010;NP_001243198;NP_001243199;NP_015556;Q14807 Hs.612151 1729794;1739137;1851614;7184809;7184854 D13S1104;D16S321;D16S383;STS-L29096 A-328A3.2;KID;KNSL4;OBP;OBP-1;OBP-2;SEMDJL2 OTTHUMP00000123406;kinesin-like 4;kinesin-like DNA-binding protein pseudogene;kinesin-like protein 4;kinesin-like protein KIF22;oriP binding protein;origin of plasmid DNA replication-binding protein APPROVED protein-coding ENSG00000079616 HGNC:6391 04445 603213;603546 REVIEWED 732615 KIF1B kinesin family member 1B This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008] 1 1 1 p36.2 9382204 9553049 + 10270606 10441664 + 10210706 10381603 + 1580863;6480464;7240710;8554872;8699517 10198040;10341097;10762626;10819331;11389829;11526494;11835375;12097473;12204119;12477932;12629046;12888911;14578343;14697242;14702039;15302935;15324660;15342556;15489334;15840729;16169070;16225668;16301330;16344560;16637659;17081983;17418584;17979178;18334619;18614535;18726616;18997785;19322201;19776380;20067515;20190806;20301462;20301532;20301684;20301715;20301782;20379614;20502484;20676096;20682791;20877624;21139048;21424745;21594895;21606458;21680216;21890473;21906983;22053931;22139419;22363396;22505724;22863883;22945799;23000965;23028799;23354307;23528589;23569248;23634229;23831022;24255178;24623842;24816145;7528108;8854876;9409358;9628581 23095 O60333 AA609163;AB011163;AB017133;AB040881;AB088210;AB088211;AB088212;AB088213;ABBA01035594;ABBA01035595;ABBA01035596;ABBA01035597;ABBA01035598;ABBA01035599;ABBA01035600;AF257176;AK022977;AK023184;AK025761;AK025771;AK074279;AK297439;AK308121;AL139424;AL358013;AMYH02000263;AMYH02000264;AMYH02000265;AMYH02000266;AU121683;AV726155;AX039604;AY043362;AY139835;BC001415;BC028114;BC040017;BC047632;BC063684;BC073883;BC094856;BC115395;BF940695;BI601300;BP239973;BT007174;BU626971;CH471130;DA113609;DA485632;DA774937;NG_008069;NM_015074;NM_183416 AAH01415;AAI15396;AAK49332;AAK85155;AAN17742;AAP35838;BAA25517;BAA95972;BAB14341;BAB69038;BAE02543;BAE02544;BAE02545;BAE02546;BAG59865;CAC16629;EAW71641;EAW71642;EAW71643;EAW71644;EAW71645;NP_055889;NP_904325;O60333 Hs.97858 1645319;1645728;1649540;1664519;1676730;1685510;1687167;1690306;1693038;1695314;1711394;1727885;1736164;1751881;1770252;1789208;2109451;2132135;2185143;5017433;5020948;5037552;5092386 AL009478;AL034246;D1S1768E;D1S2021E;D1S2187;D8S2279;G34822;G35510;G42181;G54045;G63359;G65603;KIF1B__6513;RH79628;RH80337;RH94028;RH94196;SHGC-105813;SHGC-2554;SHGC-30747;SHGC-31453;SHGC-63507;STS-T76997 CMT2;CMT2A;CMT2A1;FLJ23699;HMSNII;KIAA0591;KIAA1448;KLP;MGC134844;NBLST1 OTTHUMP00000001772;OTTHUMP00000001773;OTTHUMP00000001774;OTTHUMP00000001775;OTTHUMP00000001776;kinesin superfamily protein KIF1B;kinesin-like protein KIF1B APPROVED protein-coding ENSG00000054523 HGNC:16636 05818 118210;171300;256700;605995 REVIEWED 1343896 KIF21B kinesin family member 21B This gene encodes a member of the kinesin superfamily. Kinesins are ATP-dependent microtubule-based motor proteins that are involved in the intracellular transport of membranous organelles. Single nucleotide polymorphisms in this gene are associated with inflammatory bowel disease and multiple sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 1 1 1 q32.1 174062559 174116875 - 200938514 200992828 - 200969386 201023700 - 737633;1580863;6480464;8554872 12477932 16196087;16710414;17273744;19915572;20007504;20587413;21102463;21743469;21833088;21900206;22190034;23128233;23453885;24065353;24086586;9455484 23046 O75037;Q2UVF0 AB007918;ABBA01027538;ABBA01027539;AC099756;AK131318;AL137395;AL358473;AM177180;AMYH02002474;AMYH02002475;BC031927;BC052964;BC078676;BC137281;BC144557;CH471067;DR002414;FB659860;NM_001252100;NM_001252102;NM_001252103;NM_017596;R42155 AAI37282;AAI44558;BAA32294;CAB70723;CAJ45484;CAS01784;EAW91328;EAW91331;NP_001239029;NP_001239031;NP_001239032;NP_060066;O75037 Hs.169182 1700982;1730189;1756405;1766625;2117297;2139869;2144704;2162151;2162153;5019567;7186327 A002C38;AU047957;D1S291E;G19938;RH104118;RH69911;SHGC-143378;SHGC-149924;STS-R36855;WI-19649 FLJ16314 OTTHUMP00000033935;OTTHUMP00000228887;OTTHUMP00000228888;OTTHUMP00000228889;kinesin-like protein KIF21B APPROVED protein-coding ENSG00000116852 HGNC:29442 608322 REVIEWED 1320877 KIF16B kinesin family member 16B The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 20 20 20 p11.23 16327872 16629179 - 16252742 16554079 - 16272097 16573434 - 6480464;8554872 10997877;11780052;12461558;12477932;14702039;15489334;15882625;16084724;16782399;17203973;17641687;19471022;21139019;22357949;22449649;22558309;23006423;23749212;24250222 55614 H0Y534;Q96L93 AB046810;ABBA01054009;ABBA01054010;ABBA01054011;ABBA01054012;ABBA01054013;ABBA01054014;ABBA01054015;AK000142;AK026698;AK095322;AK307399;AL049794;AL117376;AL118509;AMYH02036752;AMYH02036753;AMYH02036754;AY044654;AY166853;BC015384;BC034984;BC050577;BC110317;BC150261;BQ067573;BX647572;BX648426;CH471133;KF456837;KF456843;NG_028043;NM_001199865;NM_001199866;NM_024704;XM_005260750;XM_005260751;XM_005260752;XM_005260753;XM_005260754;XM_005260755;XM_006723588 AAH34984;AAI10318;AAI50262;AAK98768;AAO17292;BAA90971;BAB13416;BAB15530;CAI46105;CAI46266;EAX10287;EAX10288;EAX10289;EAX10290;NP_001186794;NP_001186795;NP_078980;Q96L93;XP_005260807;XP_005260808;XP_005260809;XP_005260810;XP_005260811;XP_005260812;XP_006723651 Hs.101774 1853628;1856675;2122895;2127303;2152769;2178207;2180164;2187527 G18087;RH78581;WIAF-1621;Z94444;Z94492;Z94570;Z94615;Z94715 C20orf23;KISC20ORF;SNX23 OTTHUMP00000030319;OTTHUMP00000030321;chromosome 20 open reading frame 23;kinesin motor protein;kinesin-like protein KIF16B;sorting nexin 23;sorting nexin-23 APPROVED protein-coding ENSG00000089177 HGNC:15869 10731 REVIEWED 1312759 KIF1A kinesin family member 1A The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012] 2 2 2 q37.3 235326008 235411535 - 241653181 241759725 - 240713764 240820308 - 6480464;7240710;8554872;8699517 10323250;10737800;11701947;12435738;12477932;12522103;14702039;15014437;1538749;15489334;15604093;15722511;15815621;16434418;16946706;18029348;1846075;20162572;20195357;20301682;20467438;21089229;21139048;21487076;21697133;21820098;21824248;21890473;22053931;22258533;22505724;22586326;22863567;23404705;23669038;24722188;7539720;7937745;8619474;8661001;8889548;9110174 547 C9JBH1;F8W8V9;G1UI30;H7C0K6;H7C3Y8;H7C437;Q12756 AB209138;AB210029;AB290172;AB621817;ABBA01048881;ABBA01048882;ABBA01048883;AC011298;AC112784;AF004425;AF038173;AF052089;AI815863;AI878864;AK054791;AK130880;AK307119;AL706949;AMYH02006100;AMYH02006101;AMYH02006102;AW246876;BC009491;BC021199;BC064906;BC111780;BC111799;BF879579;BF946744;BQ924476;BU732893;BX537556;CH471063;KJ534874;KJ534875;KJ534994;KJ535053;L79946;NG_029724;NM_001244008;NM_004321;U37194;XM_005247022;XM_005247023;XM_005247024;XM_005247026;XM_005247027;XM_005247028;XM_006712601;XM_006712602;XM_006712603;XM_006712604;XM_006712605 AAA80352;AAB04640;AAB97363;AAD02917;AAH64906;AAI11781;AAI11800;AAX93238;AAX93239;AHW56514;AHW56515;AHW56634;AHW56692;BAD92375;BAE06111;BAG06726;BAK64153;CAH56161;EAW71214;EAW71215;EAW71216;EAW71217;NP_001230937;NP_004312;Q12756;XP_005247079;XP_005247080;XP_005247081;XP_005247083;XP_005247084;XP_005247085;XP_006712664;XP_006712665;XP_006712666;XP_006712667;XP_006712668 Hs.516802 1341363;1643718;1711406;1712160;1781334;1781336;1781338;2108187;2139002;5021928;7184934 A002D44;D2S140;G31188;G31189;G31190;G42187;G54130;KIF1A_8222;RH47481;ha3288 ATSV;C2orf20;DKFZp686I2094;FLJ30229;HSN2C;HUNC-104;MGC133285;MGC133286;MRD9;SPG30;UNC104 OTTHUMP00000200839;OTTHUMP00000201341;axonal transport of synaptic vesicles;axonal transporter of synaptic vesicles;kinesin, heavy chain, member 1A, homolog of mouse;kinesin-like protein KIF1A;microtubule-based motor KIF1A;spastic paraplegia 30 (autosomal recessive);tmp_locus_27;unc-104- and KIF1A-related protein APPROVED protein-coding ENSG00000130294 HGNC:888 03156 601255;610357;614213;614255 REVIEWED 1349790 KIF24 kinesin family member 24 p13.3 11416179;14702039 55265 AK001795;AL353662;XM_929828;XM_939512 BAA91916;CAI15920;XP_934921;XP_944605 Hs.652809 1336128;1857685;2144788;2173554;2173556;2178712 A002D31;A002P11;D11S4351;D7S1519;G19961;RH16034 FLJ10933;bA571F15.4 protein-coding HGNC:19916 613747 1317081 KIF24 kinesin family member 24 Kinesins, such as KIF24, are microtubule-dependent ATPases that function as molecular motors. They play important roles in intracellular vesicle transport and cell division (summary by Venturelli et al., 2010 [PubMed 20670673]).[supplied by OMIM, Feb 2011] 9 9 9 p13.3 34184223 34260725 - 34252378 34329198 - 34252380 34329200 - 737633;6480464 12477932 10737800;11416179;14702039;15164053;15489334;16344560;17567985;20360068;20670673;21620453;23000965 347240 Q5T7B8 ABBA01065014;ABBA01065015;AK001795;AK125180;AK125872;AK310014;AL353662;AMYH02019443;AMYH02019444;BC048311;BC110502;BC110503;BE856625;BF895212;BP871643;BU660279;CH471071;DA906271;DT932659;DV080193;DV080194;NM_194313;XM_005251450;XM_005251451;XM_006716764 AAH48311;AAI10503;AAI10504;BAC86074;BAC86329;EAW58466;NP_919289;Q5T7B8;XP_005251507;XP_005251508;XP_006716827 Hs.710246 C9orf48;FLJ43884;MGC125677;MGC125678;bA571F15.4 kinesin-like protein KIF24 APPROVED protein-coding ENSG00000186638 HGNC:19916 12963 613747 VALIDATED 1318460 KIF23 kinesin family member 23 The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013] 15 15 15 q23 46595477 46629554 + 69706585 69740766 + 69414246 69448427 + 1580863;6480464 10403813;10506747;11416179;11782313;11827452;11877456;11942621;12477932;1406973;14676191;15009096;15075367;15161933;15197175;15199097;15297875;15302935;15324660;15479732;15489334;15592455;15778465;15796717;16103226;16236794;16344560;16461284;16565220;16790497;16964243;17081983;17198681;17353931;17979178;18329369;18511905;19015243;19471022;19531213;20360068;20451386;20508983;20562859;21139048;21890473;21904957;21906983;21963094;22522702;22586326;22939629;23000965;23562843;23570799;23650552;24128730;8524282 9493 B4E1K0;H0YKQ5;H0YME6;H0YMJ4;H7BYN4;Q02241 AA291944;ABBA01038768;AC027237;AI131325;AK303874;AK308322;AK308361;AK310402;AMYH02030697;AMYH02030698;AU133373;BC017705;BC051826;BG939827;BI093060;BX327654;BX477359;CH471082;DB445953;DR000298;NM_001281301;NM_004856;NM_138555;X67155;XM_005254796;XM_005254797;XM_005254798;XM_005254799;XM_006720778;XM_006720779;XM_006720780;XM_006720781 AAH17705;AAH51826;ABW03421;BAG64812;CAA47628;EAW77841;EAW77842;NP_001268230;NP_004847;NP_612565;Q02241;XP_005254853;XP_005254854;XP_005254855;XP_005254856;XP_006720841;XP_006720842;XP_006720843;XP_006720844 Hs.270845 1662148;1667365;2136772;2166113 D15S1166;RH68564;RH70137;STS-X67155 CHO1;KNSL5;MKLP-1;MKLP1 kinesin-like 5 (mitotic kinesin-like protein 1);kinesin-like protein 5;kinesin-like protein KIF23;mitotic kinesin-like 1;mitotic kinesin-like protein 1 APPROVED protein-coding ENSG00000137807 HGNC:6392 05455 605064 REVIEWED 1345652 KIF25 kinesin family member 25 The protein encoded by this gene is a member of the kinesin-like protein family. Protein family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. However, the particular function of this gene product has not yet been determined. Two alternatively spliced transcript variants which encode products have been described. Other splice variants have been found that lack exon 2 and the initiation codon for translation. [provided by RefSeq, Jul 2008] 6 6 6 q27 169136824 169163917 + 168418553 168445769 + 167998853 168045089 + 1580863;6480464 11416179;12477932;14574404;23319000;9925910;9925916 3834 H0YAK6;Q9UIL4 AB012722;AB012723;AB016897;ABBA01000413;ABBA01000414;AK289488;AL589733;AMYH02014988;BC130489;CH471051;NM_005355;NM_030615;XM_006715473 BAA36417;BAA36418;BAF82177;EAW47474;EAW47475;EAW47476;NP_005346;NP_085118;Q9UIL4;XP_006715536 Hs.150013 KNSL3;MGC163361 OTTHUMP00000017650;OTTHUMP00000017651;OTTHUMP00000219077;kinesin-like 3;kinesin-like protein 3;kinesin-like protein KIF25 APPROVED protein-coding ENSG00000125337 HGNC:6390 04818 603815 REVIEWED 1353712 KIF25-AS1 KIF25 antisense RNA 1 6 6 6 q27 169112016 169116283 - 168393502 168397765 - 167994187 167997077 - 10382971;11181995;12477932;14574404;15489334 100505879;26236 Q9Y6Z4 AB016899;AB016900;ABBA01000415;AL589733;AMYH02014987;AMYH02014988;BC112215;BC143766;CH471051;HG499885;HG499886;NM_014354;NR_103750 AAI43767;BAA78634;BAA78635;EAW47477;EAW47478;Q9Y6Z4 Hs.225962 5493309 UniSTS:485671 C6orf54;HGC6.1.1;MGC138420;NCRNA00300 APPROVED ncrna ENSG00000229921 HGNC:20953 VALIDATED 1312975 KIF21A kinesin family member 21A This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010] 12 12 12 q12 38491506 38641417 - 39687030 39837192 - 39293228 39443390 - 1580863;1600402;6480464;7240710;8554872;8699517 14595441 10225949;10508479;11214970;12477932;12702216;14702039;15223798;15489334;15621876;15621877;15671279;15827546;16157808;16344560;16365788;16939002;17511870;18323871;18332320;18363169;19020088;19165527;19322201;19551685;19559006;19852579;19896199;20301522;21042561;21264235;21805025;21983718;22442075;22465342;22552340;22863883;22968744;23000965;23535681;24120883;24426772;24656932;8075644;9734811 55605 H0YHG9;H0YHT2;H0YI78;H0YIM6;H0YIM7;Q7Z4S6 AB051495;AB290166;ABBA01049532;ABBA01049533;AC084373;AC090668;AC121334;AF155117;AF450487;AK000059;AK124704;AM177179;AMYH02026333;AW131223;AY368076;BC032344;BC041430;BC047572;BC136414;BX537855;CH471111;DA293947;NG_017067;NM_001173463;NM_001173464;NM_001173465;NM_017641;XM_005269007;XM_005269008;XM_005269009;XM_005269010;XM_005269011;XM_005269012;XM_005269013;XM_005269014;XM_005269015;XM_006719493;XM_006719494;XM_006719495;XM_006719496;XR_429108 AAD42883;AAH41430;AAH47572;AAI36415;AAP97680;AAR04774;BAA90916;BAB21799;BAG06720;CAD97863;CAJ45483;EAW57802;EAW57803;EAW57804;EAW57805;EAW57806;NP_001166934;NP_001166935;NP_001166936;NP_060111;Q7Z4S6;XP_005269064;XP_005269065;XP_005269066;XP_005269067;XP_005269068;XP_005269069;XP_005269070;XP_005269071;XP_005269072;XP_006719556;XP_006719557;XP_006719558;XP_006719559 Hs.374201 1746657;1752245;1782578;2122229;2141203;2149970 D12S874;G64663;L17958;SHGC-106147;SHGC-112391;STS-N39407 CFEOM1;DKFZp779C159;FEOM;FEOM1;FEOM3A;FLJ20052;KIAA1708 CFEOM;OTTHUMP00000240839;OTTHUMP00000240842;OTTHUMP00000240843;OTTHUMP00000240844;kinesin-like protein KIF2;kinesin-like protein KIF21A;renal carcinoma antigen NY-REN-62 APPROVED protein-coding ENSG00000139116 HGNC:19349 10506 135700;608283 REVIEWED 735496 KIF2A kinesin heavy chain member 2A The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 5 5 5 q12-q13 58597901 58678136 + 61601989 61683011 + 62306162 62387184 + 724431;1580863;6480464;8699517;7240710;8554872 9177777 12477932;14684825;15302853;15489334;16243029;16565220;16959419;17332754;17394562;17538014;18411309;19351716;19940135;19946888;19996280;20379614;20508983;21139048;21906983;21907836;22118674;22184201;23000965;23022380;23166591;23281010;23960144;24248467;24250222;24255178;24550385;24816145;25002494 3796 B0AZS5;D6R9M0;D6RD93;H0Y8H2;O00139 ABBA01048366;ABBA01048367;ABBA01048368;AC016637;AC034242;AI652174;AK297347;AK302270;AK307880;AK315866;AMYH02011385;AMYH02011386;AY317140;AY429552;BC031828;BC047544;CH471137;DB452624;DB456309;EF560716;EF560728;NM_001098511;NM_001243952;NM_001243953;NM_004520;Y08319 AAH31828;AAP84320;ABM82273;ABM85453;ABQ59026;ABQ59038;ACE87821;ACT64380;BAF98757;BAG59797;BAG63616;CAA69621;EAW51387;EAW51388;EAW51389;EAW51390;NP_001091981;NP_001230881;NP_001230882;NP_004511;O00139 Hs.558351 1650098;1653699;1671245;1697214;1706072;1853569;2108189;5017819;5092940 A009C35;G32425;KIF2A;KIF2_8425;RH102099;RH67870;SHGC-80072;STS-Y08319;WI-20590 CDCBM3;HK2;KIF2 Kinesin, heavy chain, 2;OTTHUMP00000123384;OTTHUMP00000197299;OTTHUMP00000197300;OTTHUMP00000221863;kinesin-2;kinesin-like protein KIF2A APPROVED protein-coding HGNC:6318 03996 602591;615411 REVIEWED 1351135 KIF2B kinesin family member 2B ENCODES a protein that exhibits ATP binding (inferred); microtubule binding (inferred); INVOLVED IN microtubule depolymerization; regulation of chromosome segregation; ASSOCIATED WITH Melanoma (inferred); FOUND IN microtubule cytoskeleton; nucleolus; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog); clofibrate (ortholog) 17 17 17 q22 48360940 48363277 + 51900239 51902573 + 53822878 53825212 + 6480464;8554872 11416179;12368902;12477932;12893827;14702039;15303970;15489334;17538014;18029348;18976975;19060894;20852589;20950786;22535524;23087211 84643 Q8N4N8 ABBA01041276;AC019315;AF333335;AK057272;AK302262;AMYH02033638;BC033802;CH471109;DB457485;HC007060;HC044625;NM_032559 AAH33802;AAK20830;ADZ15482;BAB71406;BAG63610;CBH19335;CBH30642;EAW94554;NP_115948;Q8N4N8 Hs.226805;Hs.744513 FLJ53902 kinesin protein;kinesin-like protein KIF2B protein-coding ENSG00000141200 HGNC:29443 10053 615142 VALIDATED 1605983 KIF26B kinesin family member 26B ENCODES a protein that exhibits ATP binding (inferred); microtubule binding (inferred); microtubule motor activity (inferred); INVOLVED IN establishment of cell polarity (inferred); metabolic process (inferred); microtubule-based movement (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); kinesin complex (inferred); microtubule (inferred); INTERACTS WITH benzo[a]pyrene; hydrogen peroxide; hydroquinone O-beta-D-glucopyranoside 1 1 1 q44 218607159 219157882 + 245318287 245866428 + 245154985 245703126 + 6480464;8554872 11181995;12477932;14702039;20379614;20936779;22768111;23212062;23585914;24337577;24457600 55083 B7WPD9;Q2KJY2 ABBA01047168;ABBA01047169;ABBA01047170;ABBA01047171;ABBA01047172;ABBA01047173;ABBA01047174;ABBA01047175;AC093153;AC104462;AC207442;AK001019;AK125187;AK128806;AK293964;AK297303;AL359983;AL589763;AL592103;AL845334;AMYH02003098;AMYH02003099;AMYH02003100;AMYH02003101;AMYH02003102;AMYH02003103;AMYH02003104;AMYH02003105;AMYH02003106;AY923834;BC035896;BC042481;CH471148;KF495825;NM_018012 AAH35896;AAH42481;AAY17361;BAA91469;BAC86076;BAC87614;BAG57336;BAG59771;EAW77136;NP_060482;Q2KJY2 Hs.368096 1341065;1660477;1692044;1692056;1692278;1719471;1720719;1728391;1750005;1762721;1767499;1779420;2115040;2143606;2152481;2154621;7186910 A274ZC5;AL009620;AL009638;AL033799;AL034002;AL034011;B358WG1;D1S2535;D1S423;G34828;G59332;G63478;RH123454;SHGC-111705;SHGC-146507;SHGC-153409 FLJ10157;MGC35030 OTTHUMP00000037972;OTTHUMP00000227962;kinesin-like protein KIF26B protein-coding ENSG00000162849 HGNC:25484 614026 PROVISIONAL 7381295 KIF28P kinesin family member 28, pseudogene ENCODES a protein that exhibits ATP binding (inferred); microtubule binding (inferred); microtubule motor activity (inferred); INVOLVED IN mitochondrion organization (ortholog); organelle transport along microtubule (ortholog); FOUND IN intracellular (ortholog); mitochondrial membrane (ortholog); INTERACTS WITH valproic acid 1 1 1 220227425 220242212 - 246934900 247003474 - 246771598 246839596 - 6480464 16084724 100130097 B7ZC32 AC113174;AL591848;DV080182;XM_001717074 B7ZC32;XP_001717126 Hs.739045 kinesin-like protein family member 6-like protein-coding HGNC:49205 MODEL 1318298 KIF20B kinesin family member 20B ENCODES a protein that exhibits ATPase activity; WW domain binding; INVOLVED IN ATP catabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; cytoplasm; nucleoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 2,3-dimethoxynaphthalene-1,4-dione 10 10 10 q23.31 85208188 85281517 + 91461264 91534700 + 89701590 89774943 + 1580863;6480464;8554872 10695267;11230166;11470801;12477932;12740395;14702039;15164054;15489334;16385451;16712791;19322201;21139048;21282530;21890473;21963094;22505724;23000965;8290587;8885239 9585 Q96Q89 AB033337;ABBA01021944;AK024959;AK025628;AK074336;AK290439;AL117496;AL137392;AL157389;AL157400;AMYH02023512;AY282406;AY282407;AY739715;BC005221;BC012585;BC042130;BC046134;BC058913;BC093089;BC108688;CB130618;CH471066;CS403020;FB749902;GM983782;L16782;NM_001284259;NM_016195;U93121 AAB88727;AAC37542;AAH46134;AAH58913;AAH93089;AAI08689;AAP40330;AAP40331;AAW65984;BAB15043;BAB15194;BAB69456;BAF83128;CAB55962;CAB70720;CAL40386;CAT02174;CAX21631;EAW50126;EAW50127;EAW50128;NP_001271188;NP_057279;Q96Q89 Hs.240 1668459;1674798;2109523;5114131 D10S1571;MPHOSPH1_8962;STS-H93085;STS-L16782 CT90;DKFZp434B0435;DKFZp434P0810;KRMP1;MPHOSPH1;MPP-1;MPP1 M-phase phosphoprotein 1;OTTHUMP00000020073;OTTHUMP00000020075;cancer/testis antigen 90;kinesin-like protein KIF20B;kinesin-related motor interacting with PIN1;mitotic kinesin-like protein protein-coding ENSG00000138182 HGNC:7212 09268 605498 VALIDATED 1317452 KIF26A kinesin family member 26A ENCODES a protein that exhibits microtubule binding (ortholog); INVOLVED IN enteric nervous system development (ortholog); negative regulation of signal transduction (ortholog); regulation of cell growth by extracellular stimulus (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); kinesin complex (inferred); microtubule (inferred); INTERACTS WITH all-trans-retinoic acid; calcitriol; trichostatin A 14 14 14 q32.33 84659257 84701440 + 104605060 104647235 + 104138723 104180898 + 1580863;6480464;8554872 10574462;11416179;12477932;17620599;19914172;20936779;24250222 26153 C9JFF0;Q9ULI4 AB033062;AB290161;ABBA01048389;ABBA01048390;AK026406;AL117589;AL359399;AMYH02029942;AMYH02029943;BC009415;BC025353;BE540821;NM_015656 AAH09415;AAH25353;BAA86550;BAB15472;BAG06715;CAB56009;NP_056471;Q9ULI4 Hs.134970 1766535;2219852 KIF26A__6514;SHGC-149849 DKFZp434N178;FLJ22753;KIAA1236 KIF26A variant protein;OTTHUMP00000207046;OTTHUMP00000246559;kinesin-like protein KIF26A protein-coding ENSG00000066735 HGNC:20226 613231 VALIDATED 1346328 KIF4B kinesin family member 4B ENCODES a protein that exhibits ATP binding (inferred); DNA binding (inferred); microtubule binding (inferred); INVOLVED IN antigen processing and presentation of exogenous peptide antigen via MHC class II (inferred); axon guidance (inferred); blood coagulation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH lucanthone; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 5 5 5 q33.1 150470108 150474533 + 154393260 154397685 + 155013700 155018125 + 6480464;8554872 10559369;10773663;10978527;16201836;18029348;18684836;19471022;21890473;24816145 285643 Q2VIQ3 ABBA01026217;AC008410;AF241316;AK302388;AMYH02012514;DQ120629;NM_001099293 AAI67779;ABB92415;BAG63704;NP_001092763;Q2VIQ3 Hs.567824 OTTHUMP00000226013;chromokinesin-B;chromosome-associated kinesin KIF4B protein-coding ENSG00000226650 HGNC:6322 609184 PROVISIONAL 731540 KIF3C kinesin family member 3C ENCODES a protein that exhibits ATP binding (inferred); microtubule binding (inferred); microtubule motor activity (inferred); INVOLVED IN antigen processing and presentation of exogenous peptide antigen via MHC class II (inferred); blood coagulation (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); kinesin complex (inferred); microtubule (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene; calcitriol 2 2 2 p23 25989739 26045730 - 26149455 26205443 - 25926586 25982574 - 1580863;6480464;8554872 12477932;15489334;16344560;17043677;17549794;17881655;18187620;21890473;24816145;9446808;9450952;9480755;9487132 3797 A2RU78;F8WAR6;F8WER6;O14782 ABBA01045164;ABBA01045165;ABBA01045166;ABBA01045167;ABBA01045168;ABBA01045169;AC013449;AC064847;AF018164;AF035621;AJ002223;AJ002224;AJ002225;AJ002226;AJ002227;AJ002228;AJ002229;AK293738;AK315324;AMYH02003450;AMYH02003451;AMYH02003452;BC018932;BC042486;BC092406;BC130423;BC132783;BC144223;BQ432434;BX571741;CH471053;DB303776;KF456639;NM_002254;XM_005264299 AAC05302;AAC39562;AAH42486;AAH92406;AAI30424;AAI32784;AAI44224;AAX88877;AAY24261;BAG57162;CAA05252;CAA05253;CAA05254;CAA05255;CAA05256;CAA05257;CAA05258;CAE11867;EAX00712;EAX00713;EAX00714;NP_002245;O14782;XP_005264356 Hs.21611 1732605;2108191;2128651;2151418;2156870;2181432 D2S1253;HSC2CB052;KIF3C_8426;RH12717;RH66315;UniSTS:67245 KIF3C variant protein;OTTHUMP00000120026;OTTHUMP00000201377;kinesin-like protein KIF3C protein-coding ENSG00000084731 HGNC:6321 04164 602845 VALIDATED 1315643 KIF3B kinesin family member 3B The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 27621777 27678845 + 30865443 30922814 + 32277651 32335011 + 1580863;6480464;8554872 10395937;10548469;11780052;11912492;12477932;12821668;12832475;15231748;16298999;16344560;16751776;17008358;17825299;18957512;19056867;19339549;19635168;19664597;19940036;19946888;21139048;21832049;21871436;21988832;22145905;24368420;24816145;7559760;9205841;9427749;9506951;9865700 9371 B4DYF2;O15066 AB002357;ABBA01019278;ABBA01019279;AK098431;AK299877;AK302403;AL121897;AL353976;AL354800;AMYH02036921;AMYH02036922;AMYH02036923;AMYH02036924;BC136310;BC136311;BQ431652;BU621710;CH471077;DA805755;DQ579680;NM_004798 AAI36311;AAI36312;BAA20815;BAG61727;BAG63714;EAW76381;EAW76382;NP_004789;O15066 Hs.369670 1651392;1707112;1728571;2115537;2119766;2142177;2152743;5121714 A002Q37;A002U20;D20S555E;D20S582E;G63577;IB1791;RH12366;SHGC-81319 FLA8;HH0048;KIAA0359;KLP-11 OTTHUMP00000030588;kinesin-like protein KIF3B;microtubule plus end-directed kinesin motor 3B APPROVED protein-coding ENSG00000101350 HGNC:6320 04781 603754 REVIEWED 1352051 KIF3A kinesin family member 3A ENCODES a protein that exhibits spectrin binding; INVOLVED IN cilium assembly (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centrosome; extracellular vesicular exosome; kinesin II complex; INTERACTS WITH (-)-demecolcine; 5-fluorouracil; acetylsalicylic acid 5 5 5 q31 128158460 128203363 - 132028323 132073265 - 132689653 132737573 - 1580863;6480464;6484113;8554872 1054846;10548469;10631107;11912492;12235292;12477932;1447303;14690447;15372022;15489334;16043481;16262723;16298999;17043677;17110338;17418584;17620599;17825299;18854154;18957512;19043453;19056867;19282970;19615732;19654215;19934039;20066075;20133826;20485362;20922562;20936779;21139048;21832049;21841072;21912604;22197932;22990118;23022380;23042114;23278845;23386061;24250222;24338362;24816145;7559760;8889548;9427749;9450952;9506951 11127 C9J9X2;E9PES4;H7C2F6;J3KPF9;Q05CT3;Q9Y496 AB209780;ABBA01068802;AC004039;AC004237;AF041853;AK295089;AK313359;AM177178;AMYH02012219;AW086059;BC020890;BC032599;BC039592;BC045542;BI561509;BM978559;BX114214;BX953147;CH471062;HY154618;NM_001300791;NM_001300792;NM_007054;XM_005271868;XM_005271869;XM_006714526 AAC04475;AAC72294;AAH20890;AAH32599;AAH39592;AAH45542;BAD93017;BAG58130;CAJ45482;EAW62319;EAW62320;EAW62321;NP_001287720;NP_001287721;NP_008985;Q9Y496;XP_005271925;XP_005271926;XP_006714589 Hs.43670 1657924;1800900;1801624;1802946;1805924;1808496;1809010;1811210;1811784;1812230;1812426;1813590;1815222;1819834;1819972;1820040;1820530;1823640;1824386;1825114;1826146;1826666;1828220;1828956;1830888;1831598;1833800;1833854;1834334;1836128;1837394;1839294;1839404;1842098;1842630;1842852;1846146;2000774;2000776;2000778;2000780;2000782;2000784;2000786;2000788;2000790;2000792;2000794;2000796;2000798;2000800;2000802;2000804;2000806;2000808;2000810;2000812;2000814;2000816;2000818;2000820;2000822;2000824;2000826;2000828;2000830;2000832;2000834;2000836;2000838;2000840;2000842;2000844;2000846;2000848;2000850;2000852;2000854;2000856;2000858;2000860;2000862;2000864;2000866;2000868;2000870;2000872;2000874;2000876;2000878;2000880;2000882;2000884;2000886;2000888;2000890;2000892;2000894;2000896;2000898;2000900;2000902;2000904;2000906;2000908;2000910;2000912;2000914;2000916;2000918;2000920;2000922;2000924;2000926;2000928;2000930;2000932;2000934;2000936;2000938;2000940;2000942;2000944;2000946;2000948;2000950;2000952;2000954;2000956;2000958;2000960;2000962;2000964;2000966;2000968;2000970;2000972;2000974;2000976;2000978;2000980;2000982;2000984;2000986;2000988;2000990;2000992;2000994;2000996;2000998;2001000;2001002;2001004;2001006;2001008;2001010;2001012;2001014;2001016;2001018;2001020;2001022;2001024;2001026;2001028;2001030;2001032;2001034;2001036;2001038;2001040;2001042;2001044;2001046;2001048;2001050;2001052;2001054;2001056;2001058;2001060;2001062;2001064;2001066;2001068;2001070;2001072;2001074;2001076;2001078;2001080;2001082;2001084;2001086;2001088;2001090;2001092;2001094;2001096;2001098;2001100;2001102;2001104;2001106;2001108;2001110;2001112;2001114;2001116;2001118;2001120;2001122;2001124;2001126;2001128;2001130;2001132;2001134;2001136;2001138;2001140;2001142;2001144;2001146;2001148;2001150;2001152;2001154;2001156;2001158;2001160;2001162;2096358;2096360;2096362;2096364;2096366;2096368;2096370;2096372;2096374;2096376;2096378;2096380;2096382;2096384;2096386;2096388;2096390;2096392;2096394;2096396;2096398;2096400;2096402;2096404;2096406;2096408;2096410;2096412;2096414;2096416;2096418;2114767;2151921;2151923;2183804;2191137;5015869;5015961;5016596;5094947;5115838;5120437 A005Z19;D15S1477;D5S2320;ECD01315;ECD01690;ECD02363;ECD03915;ECD05230;ECD05488;ECD06603;ECD06896;ECD07122;ECD07220;ECD07818;ECD08646;ECD10987;ECD11057;ECD11092;ECD11340;ECD12912;ECD13291;ECD13658;ECD14183;ECD14447;ECD15235;ECD15605;ECD16580;ECD16936;ECD18045;ECD18073;ECD18315;ECD19225;ECD19864;ECD20827;ECD20884;ECD22252;ECD22522;ECD22633;ECD24293;G20622;GDB:313261;GDB:315881;GDB:631802;KIF3A;MARC_15279-15280:1013611965:1;REN71299;REN71300;REN71301;REN71302;REN71303;REN71304;REN71305;REN71306;REN71307;REN71308;REN71309;REN71310;REN71311;REN71312;REN71313;REN71314;REN71315;REN71316;REN71317;REN71318;REN71319;REN71320;REN71321;REN71322;REN71323;REN71324;REN71325;REN71326;REN71327;REN71328;REN71329;REN71330;REN71331;REN71332;REN71333;REN71334;REN71335;REN71336;REN71337;REN71338;REN71339;REN71340;REN71341;REN71342;REN71343;REN71344;REN71345;REN71346;REN71347;REN71348;REN71349;REN71350;REN71351;REN71352;REN71353;REN71354;REN71355;REN71356;REN71357;REN71358;REN71359;REN71360;REN71361;REN71362;REN71363;REN71364;REN71365;REN71366;REN71367;REN71368;REN71369;REN71370;REN71371;REN71372;REN71373;REN71374;REN71375;REN71376;REN71377;REN71378;REN71379;REN71380;REN71381;REN71382;REN71383;REN71384;REN71385;REN71386;REN71387;REN71388;REN71389;REN71390;REN71391;REN71392;REN71393;REN71394;REN71395;REN71396;REN71397;REN71398;REN71399;REN71400;REN71401;REN71402;REN71403;REN71404;REN71405;REN71406;REN71407;REN71408;REN71409;REN71410;REN71411;REN71412;REN71413;REN71414;REN71415;REN71416;REN71417;REN71418;REN71419;REN71420;REN71421;REN71422;REN71423;REN71424;REN71425;REN71426;REN71427;REN71428;REN71429;REN71430;REN71431;REN71432;REN71433;REN71434;REN71435;REN71436;REN71437;REN71438;REN71439;REN71440;REN71441;REN71442;REN71443;REN71444;REN71445;REN71446;REN71447;REN71448;REN71449;REN71450;REN71451;REN71452;REN71453;REN71454;REN71455;REN71456;REN71457;REN71458;REN71459;REN71460;REN71461;REN71462;REN71463;REN71464;REN71465;REN71466;REN71467;REN71468;REN71469;REN71470;REN71471;REN71472;REN71473;REN71474;REN71475;REN71476;REN71477;REN71478;REN71479;REN71480;REN71481;REN71482;REN71483;REN71484;REN71485;REN71486;REN71487;REN71488;REN71489;REN71490;REN71491;REN71492;REN71493;STS-N25602;WI-13402;ksks161;stSG601456;stSG601457;stSG601458;stSG601459;stSG601460;stSG601461;stSG601462;stSG601463;stSG601465;stSG601466;stSG601467;stSG601468;stSG601469;stSG601470;stSG601471;stSG601472;stSG601473;stSG601474;stSG601475;stSG601476;stSG601477;stSG601478;stSG601479;stSG601480;stSG601481;stSG601482;stSG601483;stSG601484;stSG601485;stSG601486;stSG601488 FLA10;KLP-20 OTTHUMP00000066051;OTTHUMP00000066070;OTTHUMP00000198265;kinesin family protein 3A;kinesin-like protein KIF3A;microtubule plus end-directed kinesin motor 3A protein-coding ENSG00000131437 HGNC:6319 05250 604683 VALIDATED 1344489 KIF27 kinesin family member 27 This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 2012] 9 9 9 q21.32 57021633 57107363 - 86451613 86536428 - 83836698 83921509 - 1580863;6480464;8554872 12477932;12783626;15547729;15547730;16015647;21345331;22281744;24250222 55582 F2Z355;Q86VH2 ABBA01034008;ABBA01034009;ABBA01034010;AK297689;AL133654;AL354733;AMYH02021120;AMYH02021121;AMYH02021122;AMYH02021123;AY237536;AY237537;AY237538;BC071819;BC140788;CH471089;DC376766;HM370398;NM_001271927;NM_001271928;NM_017576;XM_005252089;XM_005252090;XM_005252091;XM_005252092;XM_006717176;XM_006717177;XM_006717178;XR_242596;XR_242597 AAI40789;AAP04413;AAP04414;AAP04415;ADM86750;BAG60047;CAB63770;EAW62667;EAW62668;EAW62669;EAW62670;EAW62671;NP_001258856;NP_001258857;NP_060046;Q86VH2;XP_005252146;XP_005252147;XP_005252148;XP_005252149;XP_006717239;XP_006717240;XP_006717241 Hs.697514 1338229;1751319;1752599;2107243;2114040 AB070138;D9S776;KIF27__7467;SHGC-105140;SHGC-106484 DKFZp434D0917;RP11-575L7.3 OTTHUMP00000021559;kinesin-like protein KIF27 protein-coding ENSG00000165115 HGNC:18632 11179 611253 REVIEWED 1342700 KIF4A kinesin family member 4A This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associates with condensed chromosome arms and may be involved in maintaining chromosome integrity during mitosis. This protein may also be involved in the organization of the central spindle prior to cytokinesis. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, Mar 2010] X X X q13.1 69863214 69994090 + 69509879 69640774 + 70290029 70420924 + 1580863;6480464;8699517 10559369;10773663;10978527;11736643;12477932;12809554;12927788;14702039;15031677;15148359;15166316;15297875;15326200;15489334;15625105;15772651;16344560;16565220;16964243;17081983;17353931;18029348;18502200;18604178;18684836;19471022;19596686;19802344;19946888;20360068;20711700;21139048;21252943;21565503;21566458;21693764;21832049;21841072;21890473;21994733;22586326;22678362;23000965;23305486;23870126;23940115;24237699;24250222;24457600;24816145;25027693;7929562;9168136 24137 O95239;Q59HG1 AB208797;ABBA01067554;ABBA01067555;ABBA01067556;ABBA01067557;ABBA01067558;ABBA01067559;ABBA01067560;ABBA01067561;ABBA01067562;ABBA01067563;ABBA01067564;ABBA01067565;ABBA01067566;ABBA01067567;ABBA01067568;ABBA01067569;ABBA01067570;ABBA01067571;AF071592;AF179308;AF277375;AJ271784;AK000638;AK022592;AK022717;AK024266;AK313133;AL139398;AL357752;AMYH02039656;AMYH02039657;AMYH02039658;AW592235;BC003664;BC011801;BC038459;BC049218;BC050548;CH471132;DA021880;NG_016799;NM_012310 AAD05492;AAD51855;AAF86334;AAH03664;AAH49218;AAH50548;BAD92034;BAG35952;BAG51282;CAB75427;EAX05341;EAX05342;EAX05343;NP_036442;O95239 Hs.648326 1649813;1791252;2120512;2172160;2179133 A005W08;DXS7021E;DXS7112;DXS8367;MARC_8249-8250:996688455:1 FLJ12530;FLJ12655;FLJ14204;FLJ20631;HSA271784;KIF4;KIF4-G1;KIF4G1;MRX100 OTTHUMP00000023473;chromokinesin-A;chromosome-associated kinesin KIF4A APPROVED protein-coding ENSG00000090889 HGNC:13339 06606 300521;300923 REVIEWED 1344841 KIF5B kinesin family member 5B ENCODES a protein that exhibits microtubule binding (ortholog); microtubule motor activity (ortholog); INVOLVED IN positive regulation of establishment of protein localization to plasma membrane; positive regulation of potassium ion transport; regulation of membrane potential; PARTICIPATES IN N-cadherin signaling pathway; FOUND IN cytoplasm; membrane; microtubule organizing center; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; copper(2+) sulfate; cyclosporin A 10 10 10 p11.22 32062826 32110627 - 32297938 32345371 - 32009010 32056443 - 1580863;6480464;6484113 10491391;10913441;10964943;11969417;11986669;12191989;12475239;12477932;14600269;15164054;15184079;15324660;15342556;15459722;15489334;15644324;15778465;15905402;1607388;16157705;16260607;16385451;16498388;17043677;17110338;17220478;17353931;17394562;17643375;17887960;17925227;17979178;18514191;18579780;18817524;18984674;19164528;19242560;19305391;19348763;19615732;19675065;19765186;19773350;19913510;19946888;20071331;20562859;20682791;20936779;21139048;21656749;21900206;21906983;21910419;21915095;21925109;21963094;22172677;22198464;22327624;22404429;22505724;22514732;22586326;22863883;22939629;23000965;23092984;23125841;23378251;23443559;23884313;24072715;24250222;24399297;24457600;24816145;24821626;7514426;8606779;9624122;9657148 3799 P33176;Q6P164;V9HW29 ABBA01033392;ABBA01033393;ABBA01033394;AK289413;AK299542;AK307502;AL161932;AMYH02022577;AMYH02022578;BC010885;BC065267;BC080604;BC111042;BC126279;BC126281;BP361225;BU633712;CH471072;DC399931;FJ224324;NM_004521;X65873 AAH65267;AAH80604;AAI11043;AAI26280;AAI26282;ACI46016;BAF82102;BAG61489;CAA46703;EAW85976;EAW85977;NP_004512;P33176 Hs.327736 1661537;1675768;1684411;1736034;1772154;2130942;2130944;2148122;2165047;2165049;2166978;5093540 A005U02;A009Q24;D10S1308E;G19439;G20497;G32779;HUM0S12E07;RH11000;RH47155;RH93349;SGC32704;WI-19195 HEL-S-61;KINH;KNS;KNS1;UKHC OTTHUMP00000019411;conventional kinesin heavy chain;epididymis secretory protein Li 61;kinesin 1 (110-120kD);kinesin heavy chain;kinesin-1 heavy chain;ubiquitous kinesin heavy chain protein-coding ENSG00000170759 HGNC:6324 07214 602809 VALIDATED 3399986 KIF4CP kinesin family member 4C pseudogene X X X q21.1 78819098 78820583 + 78578796 78580282 + 79323299 79324785 + 10978527 347363 ABBA01030195;AL021786;AMYH02039833;NG_016703 1780436 stbA159L8SP6 KIF4P1 pseudo HGNC:13340 INFERRED 1346574 KIF6 kinesin family member 6 ENCODES a protein that exhibits ATP binding (inferred); microtubule binding (inferred); microtubule motor activity (inferred); INVOLVED IN metabolic process (inferred); microtubule-based movement (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); kinesin complex (inferred); male germ cell nucleus (inferred); INTERACTS WITH paracetamol; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 p21.2 40856140 41246459 - 39302876 39693181 - 39335100 39725405 - 6480464;8554872 12477932;14574404;14702039;15489334;16189514;16344560;17975119;18073581;18222353;18222354;18222355;18510970;18846501;19023099;19060904;19752551;20044086;20215968;20379614;20403483;20659029;20679960;20854963;20886236;20927332;20933357;21406102;21458191;21810021;21871624;21943003;22192511;22216121;22542470;22819534;23001387;23236363;23251661;24250222 221458 B7ZKX5;F6VGH2;H0Y718;Q17RI8;Q2MDE8;Q5JRK0;Q6ZMV9 ABBA01038311;ABBA01038312;ABBA01038313;ABBA01038314;ABBA01038315;AK123217;AK131471;AL035464;AL136087;AL160161;AL161439;AL590387;AL832634;AMYH02013589;AMYH02013590;AMYH02013591;BC022074;BC043552;BC098418;BC117307;BC143444;BC143445;BX649045;DA167995;DB080579;NM_001289020;NM_001289021;NM_001289024;NM_145027;XM_005248904 AAH22074;AAH98418;AAI17308;AAI43445;AAI43446;BAC85560;BAD18616;CAD89950;NP_001275949;NP_001275950;NP_001275953;NP_659464;Q6ZMV9;XP_005248961 Hs.588202 1298229;1718813;1754841;1778296;1785872;1785970;2135145;2141938;2142286;2156855;2157240;2157712;2182068;5022651;5037552 D11S2921;D6S2417;D6S2427;D8S2279;RH123109;RH45052;RH46405;RH68704;SHGC-112435;SHGC-141762;SHGC-149881;SHGC-56752;SHGC-58225;STS-AA011442;STS-H56052 C6orf102;DKFZp451I2418;MGC33317;dJ1043E3.1;dJ137F1.4;dJ188D3.1 OTTHUMP00000016348;OTTHUMP00000164048;kinesin-like protein KIF6 protein-coding ENSG00000164627 HGNC:21202 10786 613919 VALIDATED 1343265 KIF7 kinesin family member 7 This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011] 15 15 15 q26.1 66573786 66601377 - 90171201 90198725 - 89617944 89655494 - 6480464;7240710;8554872;8699517 11416179;12477932;12975309;15547729;15547730;19592253;19615732;20301500;20301743;21139048;21552264;21633164;21890473;22281744;22505724;22587682;23125460;23142271;23251661;24255178 374654 F8WD21;Q2M1P5 ABBA01053018;ABBA01053019;AC013787;AMYH02031024;AMYH02031025;AMYH02031026;AW451733;AY358384;BC040878;BC042063;BC104044;BC112271;BC112273;BC143461;CH471101;NG_030338;NM_198525;XM_005254902;XM_005254903;XM_005254904;XM_006720497 AAH40878;AAI04045;AAI12272;AAI12274;AAI43462;AAQ88750;EAX02057;NP_940927;Q2M1P5;XP_005254959;XP_005254960;XP_005254961;XP_006720560 Hs.513134 1684140;1691274;1697552;1763145;2112954;2112960 D15S1432E;D15S1435E;RH102284;RH92955;RH99140;SHGC-146876 ACLS;HLS2;JBTS12;MGC120653;MGC138476;MGC138478;UNQ340 EQYK340;OTTHUMP00000211643;kinesin-like protein KIF7 APPROVED protein-coding ENSG00000166813 HGNC:30497 14187 200990;611254;614120 REVIEWED 734428 KIF2C kinesin family member 2C This gene encodes a kinesin-like protein that functions as a microtubule-dependent molecular motor. The encoded protein can depolymerize microtubules at the plus end, thereby promoting mitotic chromosome segregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 p34.1 43488387 43516329 + 45205396 45233439 + 44739730 44767767 + 1580863;6480464 10600236;11092768;11256614;11416179;11466324;12383881;12446739;12477932;12620232;14699064;14718566;14960279;15302853;15304328;15479732;15489334;15635413;15775983;15883193;16243029;16344560;16450057;16672973;16751065;17081983;17485487;17538014;17620599;17653072;17944972;17968321;17986458;18029348;18039936;18434591;18440323;18506187;18635958;18663358;18809577;18843200;19001124;19060894;19543227;19632184;19738201;19931454;19937794;19946888;20368358;20406800;20508983;20596523;20889715;21078677;21139048;21165574;21252943;21426902;21471284;21566458;21602793;21693764;21820309;21832049;21873978;21890473;21900206;21906983;21963094;21988832;22118464;22130050;22363599;22403406;22422706;22492725;22990118;23000965;23055517;23098759;23281010;23564489;23830822;23891108;24255178;24816145;25002494;25002679;9434124;9700166 11004 B7Z6Q6;B7Z7M6;H0Y5Z9;Q5JR89;Q5JR91;Q99661 AB264115;ABBA01050910;ABBA01050911;ABBA01050912;ABBA01050913;AK290688;AK300756;AK302267;AK312606;AL046197;AL592166;AMYH02000918;AU130795;AY026505;BC008764;BC014924;BC032038;BT006759;BU615368;CH471059;CR450302;DB045012;DC399082;DC404550;NM_001297655;NM_001297656;NM_001297657;NM_006845;U63743;XM_005270394;XM_005270395;XM_005270396 AAC27660;AAH08764;AAH14924;AAH32038;AAK20168;AAP35405;ABM84726;ABW03629;BAF83377;BAG50306;BAH13342;BAH13662;CAG29298;EAX07025;NP_001284584;NP_001284585;NP_001284586;NP_006836;Q99661;XP_005270451;XP_005270452;XP_005270453 Hs.720061 1646871;1719497;1732948;2109457;2154789 D1S1340;KIF2C_9208;RH123469;SHGC-74693;STS-U63743 CT139;KNSL6;MCAK OTTHUMP00000010066;OTTHUMP00000010067;kinesin-like 6;kinesin-like protein 6;kinesin-like protein KIF2C;kinesin-related protein 2;mitotic centromere-associated kinesin APPROVED protein-coding ENSG00000142945 HGNC:6393 05172 604538 REVIEWED 7175229 KIF9-AS1 KIF9 antisense RNA 1 3 3 3 p21.31 47144239 47224215 + 47205860 47285606 + 47164370 47244116 + 14702039;16344560 285352 ABBA01024699;ABBA01024700;ABBA01024701;ABBA01024702;AC104447;AC127430;AK096853;AMYH02006683;AMYH02006684;AMYH02006685;DA755837;HG495644;NR_033373 Hs.570631 2181242 SHGC-30575 RP11-447D11.2 ncrna HGNC:26822 VALIDATED 1347916 KIF5A kinesin family member 5A This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 57599677 57634382 + 57943812 57980416 + 57550064 57584771 + 1580863;6480464;7240710;8554872;8699517 10441583;10491391;10964943;11278422;11986669;12355402;12477932;14600269;15256501;15303970;15452312;16169070;16489470;17043677;17420921;18029348;18203753;18245137;18500496;18640125;18794853;18853458;19110536;19644859;19674979;19913121;19946888;20049410;20219786;20301682;20439292;20444755;20498205;20508602;20628086;20936779;21044781;21107874;21231887;21623771;21900206;21906983;22785106;22788249;22939629;23000965;23217743;23744071;24449572;24449904;24816145;25008398;7514426;8889548;9624122;9858832 3798 J3KNA1;Q12840 AB210045;AB290174;ABBA01026695;ABBA01026696;ABBA01026697;ABBA01026698;AC022506;AF063608;AK294881;AK315202;AL118561;AL707807;AMYH02026588;BC033961;BC035285;BC051752;BC140009;BC146670;BC150208;BM930000;CH471054;NG_008155;NM_004984;U06698 AAA20231;AAG43166;AAI40010;AAI46671;AAI50209;BAE06127;BAG06728;BAG37640;BAH11913;EAW97030;NP_004975;Q12840 Hs.151219 1699802;2107245;2131223;2140189;2151880;2172943;2180609 25471;D12S1889;D12S2159;KIF5A__6516;RH103508;SHGC-7473;SHGC-7474 D12S1889;MY050;NKHC;SPG10 KIF5A variant protein;OTTHUMP00000243047;OTTHUMP00000243048;kinesin heavy chain isoform 5A;kinesin heavy chain neuron-specific 1;kinesin, heavy chain, neuron-specific;neuronal kinesin heavy chain APPROVED protein-coding ENSG00000155980 HGNC:6323 09108 602821;604187 REVIEWED 1349353 KIFC1 kinesin family member C1 ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN blood coagulation (inferred); microtubule-based movement (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; amiodarone; benzo[a]pyrene 6 6 6 p21.3 34913703 34932095 + 33359301 33377701 + 33391536 33409924 + 1580863;6480464 10369922;11416179;12477932;14574404;15489334;17081983;17326138;18082152;19116309;19190132;19525938;19679349;19851445;19946888;21139048;21252943;21832049;21890473;21963094;22201025;22946058;23000965;23318213;24039245;24250222;24816145;8276466 3833 A2AB20;Q9BW19 ABBA01038147;AI990093;AJ010479;AK297378;AK303239;AL021366;AL050332;AL662799;AMYH02013485;AMYH02013486;BC000712;BC063567;BC073878;BC098438;BC121041;BC121042;BE885900;BX088650;BX248088;CH471081;CR759793;D14678;NM_002263;XM_005249092;XM_005275403;XM_005275553;XM_005275555;XM_006715094;XM_006726001;XM_006726094 AAH00712;AAH63567;AAH73878;AAH98438;AAI21042;AAI21043;BAA03509;BAG59820;BAG64325;CAA09217;CAA16157;CAB63782;EAX03726;EAX03727;EAX03728;NP_002254;Q9BW19;XP_005249149;XP_005275460;XP_005275610;XP_005275612;XP_006715157;XP_006726064;XP_006726157 Hs.436912 1663588;1694162;1853518;2128792;2189549 AL035165;D6S1834;RH36517;STS-D14678;UniSTS:236125 HSET;KNSL2;MGC1202;MGC149736;MGC149737 OTTHUMP00000029296;kinesin-like 2;kinesin-like protein 2;kinesin-like protein KIFC1;kinesin-related protein HSET protein-coding ENSG00000237649 HGNC:6389 603763 VALIDATED 1313687 KIF9 kinesin family member 9 ENCODES a protein that exhibits protein dimerization activity; INVOLVED IN extracellular matrix disassembly; organelle disassembly; regulation of podosome assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN microtubule; podosome; vesicle; INTERACTS WITH (-)-demecolcine; copper atom; copper(0) 3 3 3 p21.31 47207813 47262937 - 47269516 47324337 - 47228026 47282847 - 1580863;6480464;8554872 11483511;12477932;14702039;15489334;21119006;22964304;23455924 64147 A8K932;B4DZK5;C9JWZ7;E7EUW8;Q6PJI1;Q9HAQ2 ABBA01024699;ABBA01024700;AC104447;AF311212;AI741745;AK023894;AK292547;AK302070;AK302974;AK314418;AMYH02006684;AMYH02006685;BC015311;BC030657;BC104479;CH471055;NM_001134878;NM_022342;NM_182902;XM_005265388;XM_005265389;XM_006713291 AAG33849;AAH15311;AAH30657;AAI04480;ABM83394;ABM86607;BAB14713;BAF85236;BAG63460;BAG64117;EAW64813;EAW64814;EAW64815;EAW64816;EAW64817;NP_001128350;NP_071737;NP_878905;Q9HAQ2;XP_005265445;XP_005265446;XP_006713354 Hs.373947 1679383;2106531;2181242 KIF9__6517;RH98504;SHGC-30575 MGC104186 OTTHUMP00000164778;OTTHUMP00000164779;OTTHUMP00000208728;kinesin protein 9;kinesin-like protein KIF9 protein-coding ENSG00000088727 HGNC:16666 07444 607910 VALIDATED 1317029 KIFC3 kinesin family member C3 KIFC3 belongs to the large superfamily of kinesins, molecular motors that use the energy of ATP hydrolysis to translocate cargoes along microtubules. Members share extensive homology within a globular domain containing the microtubule- and ATP-binding sites and have a coiled-coil stalk domain that mediates oligomerization. Different kinesin family members participate in specific and diverse motile processes, such as cell division, organelle transport, and nuclear movement (Hoang et al., 1998 [PubMed 9782090]).[supplied by OMIM, Mar 2009] 16 16 16 q13-q21 42289388 42333720 - 57792129 57896957 - 57758217 57863053 - 1580863;6480464;6484113 10375449;11581287;12135985;12477932;14702039;15489334;16344560;17286855;19041755;19056867;19789344;19913121;19953087;20309963;20360068;20628086;21832049;21963094;21988832;23455924;23954441;24722188;8240664;9782090 3801 B7Z484;B7Z896;F5H3M2;H3BMJ1;H3BMQ3;H3BMR0;H3BMZ5;H3BNZ0;H3BPE2;H3BRQ1;H3BSN2;H3BTE9;H3BTL6;H3BTN1;H3BTU1;H3BUC0;H3BV47;Q9BVG8 AB209290;ABBA01025282;ABBA01025283;AC010543;AC092118;AF004426;AK091891;AK092013;AK291737;AK295926;AK296995;AK299431;AK302743;AK303021;AK304132;AK307846;AMYH02032112;BC001211;BC008014;BC019057;BC034234;BC041132;BC047051;BX647698;CH471092;DA989120;DC381406;DQ426879;FO082293;NM_001130099;NM_001130100;NM_005550;XM_005255937;XM_005255943;XM_005255944;XM_005255945;XM_005255946;XM_006721188;XM_006721189;XM_006721190 AAC24153;AAH01211;AAH08014;AAH34234;AAH41132;AAH47051;ABD90538;ABM82783;ABM85972;BAD92527;BAF84426;BAH12222;BAH12470;BAH13030;BAH13794;BAH13882;BAH14114;CAI46023;EAW82953;EAW82954;EAW82955;EAW82956;NP_001123571;NP_001123572;NP_005541;Q9BVG8;XP_005255994;XP_005256000;XP_005256001;XP_005256002;XP_005256003;XP_006721251;XP_006721252;XP_006721253 Hs.23131 1658886;1683829;1699038;2159540 RH103092;RH65012;SHGC-60791;STS-AA021567 DKFZp686D23201;FLJ34694 OTTHUMP00000164659;kinesin-like protein KIFC3 APPROVED protein-coding ENSG00000140859 HGNC:6326 05171 604535 VALIDATED 1318370 KIF5C kinesin family member 5C ENCODES a protein that exhibits ATP binding (inferred); microtubule binding (inferred); microtubule motor activity (inferred); INVOLVED IN mRNA transport (ortholog); ASSOCIATED WITH Arthrogryposis multiplex congenita (inferred); Autosomal dominant inheritance (inferred); Congenital onset (inferred); FOUND IN cytoplasm (inferred); kinesin complex (inferred); microtubule (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid; cisplatin 2 2 2 q23.1 143347002 143497189 + 149793796 149883273 + 148875223 149026759 + 1580863;6480464;8699517;7240710;8554872 12477932;15644324;16169070;16344560;16835241;17110338;17353931;17887960;17906294;18682247;19011756;19135897;20379614;21139048;21145461;21906983;22751105;23000965;23453885;24816145;7514426;9361024;9624122;9628581;9782088 3800 C9JWB9;O60282;Q59GB8 AA602178;AB011103;AB073396;AB209191;ABBA01004740;ABBA01004741;ABBA01027998;ABBA01027999;AC073271;AC105402;AC108512;AC144443;AC144611;AC153810;AC206420;AEKP01039870;AF010146;AK126689;AL050070;AL117393;AMYH02004958;AMYH02004959;AW162840;BC002721;BC017298;BC025961;BC110287;BC127772;CH471058;DA085551;DA501487;HY003338;NM_004522;NR_111932 AAD01436;AAH02721;AAH17298;AAH25961;AAI10288;AAI27773;AAX82030;AAX82035;AAX82036;AAY24013;BAA25457;BAD92428;BAE45725;CAB55895;EAX11544;NP_004513;O60282 Hs.435557;Hs.660699 1644774;1650561;1651408;1656970;1659636;1730257;1767951;1854093;2132306;2137849;2149502 AFMa067ze1;D2S1809;D2S187E;D2S2503;G16419;RH11753;RH78450;SHGC-30990;STS-M62096;UniSTS:71815;WI-15722 CDCBM2;FLJ44735;KIAA0531;KINN;MGC111478;NKHC;NKHC-2;NKHC2 Kinesin, heavy chain, neuron-specific;OTTHUMP00000204397;OTTHUMP00000204430;kinesin heavy chain isoform 5C;kinesin heavy chain neuron-specific 2 protein-coding ENSG00000168280 HGNC:6325 604593;615282 VALIDATED 1352702 KIFC2 kinesin family member C2 ENCODES a protein that exhibits ATP binding (inferred); microtubule binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; arsenous acid; benzo[a]pyrene 8 8 8 q24.3 141866838 141874598 + 145691432 145699499 + 144466049 144474116 + 1580863;6480464;8554872 12477932;14702039;15489334;16169070;17474147;20467438;21900206;21988832;22130050;8619474;9110174;9115737 90990 Q96AC6 ABBA01005200;ABBA01005201;ABBA01005202;ABBA01005203;ABBA01005204;AC084125;AK055045;AMYH02019008;AY007121;BC015171;BC017311;CH471162;NM_145754;XM_005272357;XM_006716684 AAH15171;AAH17311;BAB70844;EAW82085;EAW82086;EAW82087;NP_665697;Q96AC6;XP_005272414;XP_006716747 Hs.528713 1647959;1767169;1798010 PPP1R16A_1616;RH1549;SGC33369 OTTHUMP00000228552;kinesin-like protein KIFC2 protein-coding ENSG00000167702 HGNC:29530 13916 PROVISIONAL 1315717 KIN Kin17 DNA and RNA binding protein The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 10 10 10 p15-p14 7723177 7755764 - 7792925 7829990 - 7750962 7788027 - 1580863;6480464;8554872 10504327;10779351;10964102;11880372;12359749;12477932;12525703;12751957;12754299;12853634;15635413;15831485;16385451;16511313;16636754;17045609;18029424;1923796;20360068;21139048;21980430;23349634;24140279;24163370;24755081;24816145;9266022 22944 O60870;S4R357 AA768850;ABBA01034735;ABBA01034736;AJ005273;AK296637;AK301789;AK309059;AL158044;AMYH02022085;BC017309;BC037913;BX504040;CH471072;NM_012311;NR_045609;XM_006717434;XM_006717435 AAH17309;BAG63244;BAH12407;CAA06462;EAW86374;NP_036443;O60870;XP_006717497;XP_006717498 Hs.397918 1723365;1731060;1853796;2108801;2164736;5014039;5020885;5021396;5022383;5093568;5109281;5109663 A009S02;D10S277;D1S1425;D22S1584;D7S2067E;ECD04345;G32796;GDB:313783;KIN_9291;L17791;RH118500;WI-17908 BTCD;KIN17;Rts2 DNA/RNA-binding protein KIN17;KIN, antigenic determinant of recA protein homolog;OTTHUMP00000019061;antigenic determinant of recA protein homolog;binding to curved DNA APPROVED protein-coding ENSG00000151657 HGNC:6327 03425 601720 REVIEWED 1351802 KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 52321969 52336480 + 55281265 55295778 + 54769813 54784326 + 1580863;6480464;6907045;8554872 10424431;10429675;10820396;11009104;11163076;11169255;11323700;11904677;12121272;12351398;12393468;12454284;12477932;12559621;12794140;12847262;14607943;15209394;15310528;15730517;15879158;15896204;16112031;16141329;16403292;16508981;16571411;16709835;16774543;17207965;17490516;17493149;17497034;17498266;17522341;17868255;17990989;18186800;18269867;18340360;18543232;18571006;18574028;18604210;18632158;18643961;18643963;18668235;18681957;18687225;18718052;18755860;18778326;18830515;18848853;18945962;19000141;19032228;19046302;19120281;19169284;19181658;19218127;19279038;19309280;19326408;19421224;19450876;19489269;19493232;19527230;19549382;19630074;19664392;19683555;19711124;19761533;19828694;19846535;19850842;19861144;19875891;19897003;19926642;19934297;19936734;19968064;20056126;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20210923;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20580654;20600442;20643584;20650299;20652381;20670355;20878400;20935224;21070852;21179506;21933704;23128233;23354323;23865361;23951916;24043749;24818561;24989671;7716543;7749980;9288975;9378975;9430220;9430221;9686591;9768753;9799338 3802 P43626;Q6H2H2;Q6H2H3 ABBA01068150;AC011501;AC243962;AC245128;AF022045;AF133901;AF135560;AF285431;AF285432;AL133414;AY320039;AY366237;AY366238;AY366239;AY366240;AY366241;AY388471;AY789055;AY789056;BC069344;CU041340;CU041368;CU459006;CU459007;CU466259;CU467018;CU633846;DQ371555;DQ371556;DQ371557;DQ371558;DQ371559;DQ371560;DQ371561;DQ371562;DQ466577;GU182338;GU182339;GU182340;GU182342;GU182343;GU182344;GU182345;GU182346;GU182347;GU182348;GU182350;GU182351;GU182352;GU182354;GU182355;GU182356;GU182357;GU182358;GU182359;GU182360;GU182361;KJ699235;L41267;NG_005994;NM_014218;U24076;U24078;U96189;XM_005258889;XM_005277253;XM_005278262;XM_006725421;XM_006725425;XM_006725428;XM_006725430;XM_006725437;XM_006725438;XM_006725442;XM_006725655;XM_006725656;XM_006725661;XM_006725662;XM_006725663;XM_006725664;XM_006725668;XM_006725788;XM_006725791 AAA69868;AAB54119;AAB95318;AAC50335;AAC50337;AAD24474;AAD48768;AAG34922;AAG34923;AAH69344;AAR16195;AAR16196;AAR16197;AAR16198;AAR16199;AAR26324;AAX23100;AAX23101;ABD38575;ABF13296;ADJ94526;ADJ94540;ADJ94556;ADJ94592;ADJ94605;ADJ94623;ADJ94638;ADJ94653;ADJ94671;ADJ94687;ADQ31987;AIE89873;NP_055033;P43626;XP_005258946;XP_005277310;XP_005278319;XP_006725484;XP_006725488;XP_006725491;XP_006725493;XP_006725500;XP_006725501;XP_006725505;XP_006725718;XP_006725719;XP_006725724;XP_006725725;XP_006725726;XP_006725727;XP_006725731;XP_006725851;XP_006725854 Hs.654605;Hs.690615 1682868;1799396;1799806;1811226;1816700;1819722;1834346;2045990;2046000;2046016;2046018;2046034;2046044;2046084;2046130;2046140;2046142;2046144;2046146;2046148;2046150;2046152;2046154;2046156;2046158;2046162;2046164;2046166;2046168;2046170;2046172;2046174;2046176;2046178;2046180;2046182;2046184;2046186;2046188;2046190;2046192;2046194;2046196;2046198;2046200;2046202;2046204;2046206;2046208;2046210;2046212;2046214;2046216;2046218;2046220;2046222;2046224;2046226;2046228;2046230;2046232;2046252;2046264;2158971;2217520;2219166;5014275;5014380;5016436;5020724;5038184;5038382;5096309;5107975;5111062;5113128 ECD00549;ECD00757;ECD06611;ECD09393;ECD10931;ECD11136;ECD11215;ECD18321;G29839;KIR2DL2_3394;KIR2DL3_2529;REN94062;REN94063;REN94081;REN94086;REN94099;REN94100;REN94109;REN94114;REN94138;REN94166;REN94173;REN94174;REN94175;REN94176;REN94177;REN94178;REN94179;REN94180;REN94181;REN94182;REN94184;REN94185;REN94186;REN94187;REN94188;REN94189;REN94190;REN94191;REN94192;REN94193;REN94194;REN94195;REN94196;REN94197;REN94198;REN94199;REN94201;REN94202;REN94204;REN94205;REN94210;REN94211;REN94212;REN94214;REN94217;REN94218;REN94219;REN94223;REN94224;REN94225;REN94226;REN94227;REN94228;REN94229;REN94230;REN94231;REN94243;REN94251;RH18028;RH76182;RH76307;SHGC-35391;SHGC-35499;SHGC-35500;STS-U24075 CD158A;KIR-K64;KIR221;NKAT;NKAT-1;NKAT1;p58.1 CD158 antigen-like family member A;MHC class I NK cell receptor;OTTHUMP00000068618;OTTHUMP00000165880;killer Ig receptor;killer cell immunoglobulin-like receptor 2DL1;killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 1;killer inhibitory receptor 2-2-1;natural killer-associated transcript 1;p58 NK cell inhibitory receptor NKR-K6;p58 NK receptor CL-42/47.11;p58 killer cell inhibitory receptor KIR-K64;p58 natural killer cell receptor clones CL-42/47.11;p58.1 MHC class-I-specific NK receptor APPROVED protein-coding ENSG00000125498 HGNC:6329 12000 604936 REVIEWED 1351159 KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 52290683 52305210 + 55249974 55264504 + 54738509 54753052 + 1580863;6480464;6907045;8554872 10196125;10424431;10497191;11169255;11904677;11958591;12121272;12477932;12559621;15217996;15227739;15248031;15297676;15489334;15730517;15879158;15896204;16112031;16403292;16571411;16929347;17145370;17200871;17285553;17490516;17498266;17522341;17868255;17882223;18091530;18158964;18269867;18289678;18292496;18322206;18543232;18571006;18604210;18632158;18643961;18668235;18681957;18687225;18755860;18778326;18830515;18848853;19000141;19032228;19046302;19120281;19169284;19181658;19218127;19279038;19309280;19326408;19394706;19421224;19450876;19489269;19493232;19522772;19527230;19549382;19552960;19630074;19664392;19683555;19711124;19761533;19789864;19837691;19846535;19850842;19861144;19875891;19897003;19926642;19934297;19936734;19968064;20056126;20077564;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20483367;20492596;20519398;20525888;20580654;20600442;20643584;20650299;20652381;20670355;20875478;20878400;20935224;21165439;21729574;21832049;21931540;22118180;22185807;22412373;22772445;22960345;23354323;23370861;23686481;23813131;3501368;7716543;7749980;8662091;8692965;9059894;9148918;9234478;9378975;9430220;9430221;9497500;9751747;9768753 3804 E3NZD8;I3L0I9;K7R1S5;P43628;P43631 ABBA01068150;AC006293;AC011501;AC243962;AC245128;AF022048;AF135556;AF135566;AF135567;AF285435;AY789057;BC032422;BC050730;BC110613;CU041368;CU459007;CU464054;CU467816;FJ188688;FJ188689;FJ188690;FJ188691;FJ188692;FJ188693;FN395076;FN552550;GU182338;GU182340;GU182341;GU182342;GU182343;GU182344;GU182346;GU182348;GU182349;GU182350;GU182352;GU182353;GU182354;GU182356;GU182358;GU182360;GU182361;L41268;L76662;L76663;NM_015868;U24074;U50546;U73395;U96190;XM_005277304;XM_006725426;XM_006725427;XM_006725435;XM_006725436;XM_006725669;XM_006726156;XM_006726157 AAA69869;AAB17730;AAB36590;AAB36591;AAB54120;AAB95321;AAC50333;AAC51147;AAD03160;AAD48760;AAD48761;AAD48764;AAG34926;AAH32422;AAH50730;AAI10614;AAX23102;ABM84717;ABM92239;ADN34697;ADN34698;ADN34699;ADN34700;ADN34701;ADN34702;CAZ15556;CBF06602;NP_056952;P43628;XP_005277361;XP_006725489;XP_006725490;XP_006725498;XP_006725499;XP_006725732;XP_006726219;XP_006726220 Hs.654608;Hs.731378 1804244;1810486;1811226;1816700;1835898;1844326;1844328;2045964;2045966;2045968;2045970;2045972;2045974;2045976;2045978;2045980;2045986;2045988;2045990;2045992;2045994;2045996;2045998;2046000;2046002;2046004;2046006;2046008;2046010;2046012;2046014;2046016;2046018;2046020;2046022;2046026;2046028;2046032;2046034;2046036;2046038;2046040;2046042;2046044;2046046;2046048;2046050;2046052;2046054;2046056;2046058;2046060;2046062;2046082;2046096;2046098;2046106;2046108;2046176;2046192;2046196;2046222;2104254;2219166;5014275;5014281;5014283;5014380;5016436;5020724;5038184;5038382;5096309;5111062;5113128 ECD03046;ECD06236;ECD06611;ECD09393;ECD11136;ECD11215;ECD19110;ECD23377;ECD23378;G29839;KIR2DL3_2529;REN94062;REN94063;REN94065;REN94066;REN94067;REN94068;REN94069;REN94070;REN94071;REN94072;REN94073;REN94076;REN94080;REN94081;REN94082;REN94083;REN94084;REN94085;REN94086;REN94087;REN94088;REN94089;REN94090;REN94092;REN94093;REN94094;REN94097;REN94099;REN94100;REN94101;REN94102;REN94105;REN94106;REN94108;REN94109;REN94110;REN94111;REN94112;REN94113;REN94114;REN94115;REN94116;REN94117;REN94118;REN94120;REN94121;REN94122;REN94123;REN94124;REN94125;REN94137;REN94146;REN94148;REN94152;REN94153;REN94191;REN94199;REN94202;REN94226;RH18028;RH76182;SHGC-35391;STS-U24075;stSG606279 CD158B2;CD158b;GL183;KIR-023GB;KIR-K7b;KIR-K7c;KIR2DS5;KIRCL23;MGC129943;NKAT;NKAT-2;NKAT2;NKAT2A;NKAT2B;p58 CD158 antigen-like family member B2;MHC class I NK cell receptor;NK-receptor;OTTHUMP00000068619;killer Ig-like inhibitory receptor;killer cell immunoglobulin-like receptor 2DL3;killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5;killer inhibitory receptor cl 2-3;natural killer associated transcript 2;natural killer cell inhibitory receptor KIR2DL3;natural killer-associated transcript 2;p58 NK receptor CL-6;p58 natural killer cell receptor clone CL-6;p58.2 MHC class-I specific NK receptor;p58.2 MHC class-I-specific NK receptor APPROVED protein-coding ENSG00000243772 HGNC:6331 10383 604938 REVIEWED 1347662 KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 q13.4 21890 36439 + 177968 192511 - 1580863;6480464;6907045 10097129;10190900;10850706;11169255;11750651;12121272;12473268;12559621;14607943;15140215;15146426;15248031;15699512;15730517;15848530;15879158;15896204;16112031;16403292;16469873;16571411;16698429;16698433;16774542;16929347;17092261;17200871;17445184;17498266;17868255;17882223;18091530;18269867;18292496;18322206;18498296;18543232;18571006;18572300;18643961;18668235;18681957;18687225;18755860;18759923;18778326;18830515;18848853;18945643;18945962;19000141;19032228;19046302;19120281;19169284;19181658;19218127;19234149;19279038;19309280;19326408;19392800;19421224;19450876;19489269;19493232;19522772;19527230;19549382;19552960;19630074;19664392;19683555;19761533;19789864;19846535;19850842;19861144;19875891;19877200;19897003;19926642;19934297;19936734;19959527;19968064;20056126;20082482;20082621;20082646;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20580654;20600442;20643584;20650299;20652381;20670355;20875478;20878400;20935224;21206914;21373785;21814282;22022261;22024796;22772445;22807681;22836042;22871633;22960345;23380384;23686481;24349500;24735502;24839813;7749980;8662091;9476117 3803 P43627;Q6H2H0;Q8N742 AF285434;AL133414;AY320039;AY366242;CU464060;CU467816;EU791544;EU791545;EU791546;GL949748;GL949753;GQ921916;GQ921919;GU182339;GU182341;GU182345;GU182347;GU182351;GU182353;GU182355;GU182357;GU182359;L76669;NG_005994;NM_014219;U24075 AAB36597;AAC50334;AAG34925;AAI52937;AAR16200;ACI49715;ACI49716;ACI49717;ACX71617;ACX71620;ADJ94533;ADJ94635;ADJ94646;ADJ94677;CAX15032;NP_055034;P43627 Hs.743949 1682868;2046226;2046228;2104254;2158971;2217520;2219166;5014281;5014380;5016436;5020724;5038382;5096309;5107975;5111062;5113128 ECD11136;ECD11215;G29839;KIR2DL2_3394;KIR2DL3_2529;REN94097;REN94228;REN94229;RH18028;RH76182;RH76307;SHGC-35391;SHGC-35499;SHGC-35500;STS-U24075;stSG606279 CD158B1;CD158b;NKAT-6;NKAT6;p58.2 CD158 antigen-like family member B1;MHC class I NK cell receptor;killer cell immunoglobulin-like receptor 2DL2;natural killer-associated transcript 6;p58 NK receptor CL-43;p58 natural killer cell receptor clone CL-43 APPROVED protein-coding HGNC:6330 16080 604937 REVIEWED 1313072 KIFAP3 kinesin-associated protein 3 The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 1 1 1 q24.2 143000253 143153688 - 169890461 170043882 - 169921329 170074741 - 1580863;6480464;8554872 11912492;12477932;14702039;15032605;15489334;16043481;16262723;16298999;16344560;16710414;16713569;17002498;17043677;17113389;17825299;19064610;19088126;19451621;19654215;19762545;20016921;20080650;20566859;21139048;21659726;21890473;21900206;21988832;23000965;24250222;8900189;9427749;9506951 22920 B7Z7E7;Q92845 ABBA01027945;AI085654;AK026471;AK122897;AK297368;AK301912;AK303052;AK315586;AL121714;AL356475;AL445191;AMYH02002118;AMYH02002119;BC028679;BC048012;BG707718;CH471067;DA144269;KF455070;NG_012883;NM_001204514;NM_001204516;NM_001204517;NM_014970;U59919;XM_005244970 AAC50788;AAH28679;ABM81878;ABM85040;BAG37958;BAH12562;BAH13583;BAH13889;EAW90869;EAW90870;EAW90871;EAW90872;EAW90873;NP_001191443;NP_001191445;NP_001191446;NP_055785;Q92845;XP_005245027 Hs.433442 1656589;1666795;1707434;2107247;2151541;2174324;7184214 A002K17;AL009672;D1S2192;D1S2521;KIFAP3__6518;SHGC-84509 FLA3;FLJ22818;KAP-1;KAP-3;KAP3;SMAP;Smg-GDS;dJ190I16.1 OTTHUMP00000034158;OTTHUMP00000034159;OTTHUMP00000034160;small G protein GDP dissociation stimulator;smg GDS-associated protein APPROVED protein-coding ENSG00000075945 HGNC:17060 03499 601836 REVIEWED 1605151 KIR2DL5B killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 p13.3 166421 175937 - 6480464 10820258;11086080;11237011;12185535;15496913;16403292;17215859;18461314;18498296;19120281;19218127;19450876;19683555;19761533;20193031;20200544;20426625;20492596;20650299;20878400;21206914;21729574;22652695 553128 Q8NHK3;Q8NHK4 AF204905;AF217486;AF271607;AF271608;AF272157;AJ544587;AY320039;GU182339;GU182343;GU182345;GU182347;GU182351;GU182357;KI270914;KI270930;NG_005994;NM_001018081 AAG44777;AAG44778;AAG44797;AAI56861;ADJ94515;ADJ94547;ADJ94564;ADJ94581;ADJ94614;ADJ94663;CAD67580;NP_001018091;Q8NHK3 Hs.740906 1802290;1810030;1819722;2046064;2046070;2046234;2046238;2046396;2046408;2046410;2046484;2158971;5014283;5020724 ECD02029;ECD06007;ECD10931;REN94122;REN94126;REN94131;REN94232;REN94236;REN94318;REN94324;REN94325;REN94362;RH18028;SHGC-35500 KIR2DL5;KIR2DL5.2;KIR2DLX CD158 antigen-like family member F2;killer cell Ig-like receptor;killer cell immunoglobulin-like receptor 2DL5B;killer cell immunoglobulin-like receptor 2DLX APPROVED protein-coding HGNC:16346 18687 615727 REVIEWED 1607012 KIR2DL5A killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 p13.3 47577019 47578436 - 86691 96155 + 6480464;6907045 10820258;11086080;12121272;12185535;15140215;15187115;15896204;16403292;16698429;16722215;16774542;17092261;17200871;17215859;17371997;17464504;17490516;17498266;17557377;17592337;17868255;18074414;18297378;18461314;18498296;18509341;18571006;18638658;18643961;18668235;18687225;18759923;18778326;18830515;18848853;18945962;19000141;19032228;19046302;19120281;19169284;19218127;19279038;19309280;19326408;19421224;19450876;19489269;19493232;19527230;19630074;19664392;19683555;19761533;19846535;19850842;19861144;19875891;19897003;19926642;19936734;19968064;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20426625;20456039;20483367;20492596;20519398;20528243;20580654;20585770;20600442;20643584;20650299;20652381;20670355;20878400;22652695;23234877;23394822 57292 Q0KH99;Q8N109 AF204903;AF204904;AF217485;AF217487;AL133414;AM084878;AY320039;EF102434;EF379096;EF473257;EF473258;EF473261;EF473264;EU031916;EU031917;EU489567;EU489568;FJ804068;GU063856;GU182355;JX008031;NG_005994;NM_020535 AAF72845;AAF74055;AAG37101;AAG40152;AAI60063;ABK97618;ABM92655;ABR88101;ABR88102;ABR88105;ABR88108;ABW04729;ABW04730;ACD49724;ACD49725;ACY78696;ADI95449;ADJ94650;AFV74773;CAJ29894;NP_065396;Q8N109 Hs.740906 1802290;1810030;1819722;2046064;2046070;2046234;2046238;2046408;2046410;2046484;2158971;2217522;5014283;5020724 ECD02029;ECD06007;ECD10931;KIR3DL1_3398;REN94122;REN94126;REN94131;REN94232;REN94236;REN94324;REN94325;REN94362;RH18028;SHGC-35500 CD158F;KIR2DL5;KIR2DL5.1;KIR2DL5.3;KIR2DL5B killer cell immunoglobulin-like receptor 2DL5A;killer cell immunoglobulin-like receptor KIR2DL5A;killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 5A;killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5;killer-cell Ig-like receptor APPROVED protein-coding HGNC:16345 05603 605305 REVIEWED 1350757 KIR2DS3 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 q13.4 150177 164532 - 1580863;6907045 11237011;12559621;15496913;15896204;16403292;16508981;16829306;17462498;17498266;17868255;17882223;18074414;18340360;18480828;18571006;18643961;18668235;18681957;18687225;18764809;18778326;18830515;18848853;19000141;19005473;19032228;19046302;19120281;19169284;19181658;19218127;19279038;19309280;19326408;19410616;19421224;19450876;19489269;19493232;19500138;19527230;19630074;19664392;19683555;19761533;19846535;19850842;19861144;19875891;19897003;19926642;19934297;19936734;19968064;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20371915;20426625;20483367;20492596;20519398;20528243;20580654;20600442;20643584;20650299;20652381;20670355;20878400;21206914;21402922;22219647;22653583;23394822;23826153;7749980;8662091;8765026;9430220;9430221 3808 K7QT50;Q14952 AF022047;AL133414;AM851002;AY320039;AY789063;GU182339;GU182347;GU182351;GU182352;GU182359;JX008031;KI270882;KI270885;KI270886;L76670;NG_005994;NM_012313;X97231;XM_006725434;XM_006725660 AAB36598;AAB95320;AAI56609;AAX23108;ADJ94516;ADJ94582;ADJ94615;AFV74774;CAA65870;CAO98983;NP_036445;Q14952;XP_006725497;XP_006725723 Hs.744266 1849467;5113128 RH69059;RH76182 NKAT-7;NKAT7 MHC class I NK cell receptor;killer cell immunoglobulin-like receptor 2DS3;killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 3;natural killer cell inhibitory receptor;natural killer-associated transcript 7 APPROVED protein-coding HGNC:6335 05386 604954 REVIEWED 1605452 KIR2DP1 killer cell immunoglobulin-like receptor, two domains, pseudogene 1 19 19 19 q13.4 52308170 52312924 + 55267464 55272220 + 54756012 54760768 + 10820258;16403292;17490516;17498266;18074414;18186800;18571006;18643961;18668235;18687225;18778326;18830515;18848853;18945962;19000141;19169284;19218127;19279038;19309280;19421224;19450876;19489269;19493232;19527230;19683555;19761533;19846535;19850842;19861144;19897003;19926642;20082482;20193031;20200544;20210918;20426625;20492596;20519398;20580654;20600442;20650299;20670355;20878400 554300 ABBA01068150;AC011501;AC243962;AC245128;AF204908;AY320039;CU041368;CU459007;CU464054;CU464061;CU466259;GU182338;GU182339;GU182340;GU182342;GU182343;GU182344;GU182345;GU182346;GU182347;GU182348;GU182350;GU182351;GU182352;GU182354;GU182356;GU182357;GU182358;GU182360;GU182361;NG_005994;NG_033793 1807896;1844326;1844328;2045984;2046002;2046010;2046066;2046068;2046070;2046072;2046074;2046076;2046078;2046080;2046082;2046084;2046086;2046088;2046090;2046092;2046094;2046096;2104256;2104258;2104268 ECD04923;ECD23377;ECD23378;REN94075;REN94087;REN94092;REN94127;REN94128;REN94131;REN94132;REN94133;REN94134;REN94135;REN94136;REN94137;REN94138;REN94139;REN94140;REN94141;REN94144;REN94145;REN94146;stSG606296;stSG606297;stSG606318 KIR15;KIR2DL6;KIRY;KIRZ pseudo HGNC:16344 VALIDATED 1353116 KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 52355766 52366672 + 55304500 55325972 + 54803612 54814517 + 1580863;6480464;6907045;8554872 10190900;11169255;11489965;11754000;11994457;12055234;12370356;12477932;12538663;12559621;12616484;12794136;12826375;12902476;14500636;14700593;15333596;15580659;15670976;15730517;15778339;15778373;15780179;15853895;15896204;16344560;16366734;16403292;17171757;17200871;17207965;17490516;17498266;17498270;17610421;17868255;18074414;18082267;18186800;18292514;18314122;18347914;18571006;18586981;18604210;18643961;18668235;18718052;18778326;18848853;18945643;18945962;19000141;19032228;19046302;19134329;19169284;19218127;19279038;19304328;19304799;19309280;19326408;19394279;19450876;19489269;19509110;19527230;19589363;19630074;19675166;19679155;19683555;19700612;19761533;19846535;19861144;19875891;19897003;19926642;19946888;19968064;20082482;20082646;20173784;20173792;20179272;20193031;20200544;20210918;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20580654;20600442;20643584;20650299;20652381;20670355;20878400;21092455;21270397;21607693;21623736;22320834;22467658;23184984;23228393;24033084;24127555;24337374;24337384;8946682;9059894;9234477;9430220;9430221 3805 A8MT18;E7EST5;Q8N736;Q99706 ABBA01068150;AC011501;AC243962;AC245128;AF002256;AF002979;AF002980;AF002981;AF002982;AF003123;AF034771;AF034772;AF034773;AF110035;AF276292;AF285436;AK309531;AK310066;AL133414;AM404442;AY052496;AY052497;AY052498;AY223512;AY223513;AY223514;AY223515;AY250088;AY320039;AY359817;AY601812;AY727757;AY727758;AY727759;AY727760;AY727761;AY727762;AY727763;AY727764;AY789058;AY789059;AY789060;AY789061;AY789062;BC028137;BC041611;BM918119;CH471135;CU151839;CU459006;DA590865;DA934665;DQ266438;DQ272466;DQ371563;DQ371564;DQ371565;DQ371566;DQ371567;DQ371568;DQ371569;EU194340;EU194341;EU194342;GU182338;GU182339;GU182340;GU182341;GU182342;GU182343;GU182344;GU182345;GU182346;GU182347;GU182348;GU182349;GU182350;GU182351;GU182352;GU182353;GU182354;GU182355;GU182356;GU182357;GU182358;GU182359;GU182360;GU182361;HM997084;NG_005994;NM_001080770;NM_001080772;NM_002255;U71199;U73394;X97229;X99479;X99480;X99481;Y13054 AAB49756;AAB61282;AAB61926;AAB71387;AAB71388;AAB71389;AAB71390;AAB95164;AAB95165;AAB95166;AAC51146;AAD24763;AAG34927;AAG44820;AAH41611;AAL14211;AAL14212;AAL14213;AAO46034;AAO46035;AAO46036;AAO46037;AAP02958;AAQ83723;AAT11793;AAW32088;AAW32089;AAW32090;AAW32091;AAW32092;AAW32093;AAW32094;AAW32095;AAX23103;AAX23104;AAX23105;AAX23106;AAX23107;ABB73033;ABB84493;ABD38576;ABW73959;ABW73960;ABW73961;ADJ94534;ADJ94550;ADJ94574;ADQ32875;ADY90046;CAA65868;CAA67842;CAA67843;CAA67844;CAA73497;CAL49524;EAW72279;EAW72280;EAW72281;EAW72282;EAW72283;NP_001074239;NP_001074241;NP_002246;Q99706 Hs.661219;Hs.743945 1799808;1802290;1808176;1808246;1816466;1835528;1840876;2046212;2046372;2046374;2046376;2046378;2046380;2046382;2046384;2046386;2046388;2046390;2046392;2046394;2046398;2046400;2046402;2046404;2046406;2046408;2046410;2046412;2046414;2046416;2046418;2046420;2046422;2046424;2046426;2046428;2046430;2046432;2046434;2046436;2046438;2046440;2046442;2046444;2046446;2046448;2046450;2046452;2046454;2046456;2046458;2046460;2046462;2046464;2046466;2046468;2046470;2046472;2046474;2046476;2046478;2046480;2046482;2046484;2046486;2046488;2104262;2104282;2104284;2104286;2104288;2104290;2104292;2104294;2104296;5014283;5020724;5038184;5095822;5107975;5111062 ECD00758;ECD02029;ECD05069;ECD05104;ECD09275;ECD18920;ECD21631;REN94062;REN94122;REN94218;REN94306;REN94307;REN94308;REN94309;REN94310;REN94311;REN94312;REN94313;REN94314;REN94315;REN94316;REN94317;REN94319;REN94320;REN94321;REN94322;REN94323;REN94324;REN94325;REN94326;REN94327;REN94328;REN94329;REN94330;REN94331;REN94332;REN94333;REN94334;REN94335;REN94336;REN94337;REN94338;REN94339;REN94340;REN94341;REN94342;REN94343;REN94344;REN94345;REN94346;REN94347;REN94348;REN94349;REN94350;REN94351;REN94352;REN94353;REN94354;REN94355;REN94356;REN94357;REN94358;REN94359;REN94360;REN94361;REN94362;REN94363;REN94364;RH18028;SHGC-35499;STS-U24075;STS-X97229;stSG606302;stSG606325;stSG606326;stSG606327;stSG606328;stSG606329;stSG606330;stSG606331;stSG606332 CD158D;G9P;KIR103;KIR103AS CD158 antigen-like family member D;KIR-103AS;MHC class I NK cell receptor KIR103AS;NK cell receptor;OTTHUMP00000068610;OTTHUMP00000068611;OTTHUMP00000068612;OTTHUMP00000068614;OTTHUMP00000068615;OTTHUMP00000068616;killer Ig receptor;killer cell immunoglobulin-like receptor 2DL4;killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 4;killer cell inhibitory receptor 103AS;natural killer cell inhibitory receptor APPROVED protein-coding ENSG00000189013 HGNC:6332 16082 604945 REVIEWED 1345824 KIR2DS5 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 139 2275 - 98112 113132 + 29866 44902 - 1580863;6480464;6907045 11144295;12559621;14607943;15896204;16403292;16698429;16698433;16829306;17174747;17490516;17498266;17592337;17868255;18315912;18498296;18555529;18571006;18624290;18638658;18643961;18668235;18681957;18682925;18687225;18765192;18778326;18830515;18848853;18945962;19000141;19032228;19046302;19120281;19169284;19181658;19218127;19279038;19309280;19326408;19410616;19421224;19450876;19493232;19500138;19527230;19630074;19664392;19683555;19761533;19846535;19850842;19861144;19875891;19897003;19926642;19934297;19936734;19968064;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20580654;20600442;20643584;20650299;20652381;20670355;20865034;20878400;21145461;21206914;21233146;21729574;21867738;22376216;22652695;22836040;23028591;24269691;7749980;8662091;8765026 3810 Q14953 AF208054;AF272389;AL133414;AY320039;AY366247;AY366248;CU459006;CU464054;CU464055;CU464061;GU182343;GU182345;GU182347;GU182355;GU182357;L76672;NG_005994;NM_014513;XM_006725424;XM_006725441;XM_006725648;XM_006725654;XM_006725787;XM_006725790;XM_006725794 AAB36600;AAG35724;AAI60061;AAK83693;AAR16205;AAR16206;ADJ94548;ADJ94565;ADJ94648;ADJ94664;NP_055328;Q14953;XP_006725487;XP_006725504;XP_006725711;XP_006725717;XP_006725850;XP_006725853;XP_006725857 Hs.744266 1770744;1811226;1844326;1844328;1849467;2045990;2046010;2046016;2046018;2046026;2046040;2046044;2046058;2046084;2046132;2046174;2046176;2046178;2046184;2046192;2046194;2046196;2046200;2046202;2046204;2046206;2046208;2046238;2158971;5020724;5107975;5111062;5113128 ECD06611;ECD23377;ECD23378;REN94081;REN94092;REN94099;REN94100;REN94105;REN94112;REN94114;REN94123;REN94138;REN94168;REN94190;REN94191;REN94192;REN94195;REN94199;REN94201;REN94202;REN94205;REN94210;REN94211;REN94212;REN94214;REN94236;RH18028;RH69059;RH76182;SHGC-35499;SHGC-35500;STS-L76672;STS-U24075 CD158G;NKAT-9;NKAT9 CD158 antigen-like family member G;MHC class I NK cell receptor;killer cell immunoglobulin-like receptor 2DS5;killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 5;natural killer cell inhibitory receptor;natural killer-associated transcript 9 APPROVED protein-coding HGNC:6337 05388 604956 REVIEWED 1344459 KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] 19 19 q13.4 131449 145745 + 194385 208698 - 1580863;6480464 10424431;10658980;11169255;11169398;11172020;11369787;11470774;12477932;12559621;12591902;12668644;14514651;14607943;15057824;15146426;15194195;15356118;15580655;15699512;15896204;16112031;16403292;16504727;16623599;16824023;16929347;17200871;17445179;17445184;17490516;17497034;17498266;17767567;17868255;17882223;18074414;18091530;18158964;18292496;18340360;18571006;18643961;18668235;18681957;18687225;18755860;18778326;18830515;18848853;18945962;18976447;19000141;19046302;19120281;19169284;19181658;19218127;19279038;19309280;19326408;19410616;19421224;19450876;19489269;19493232;19527230;19630074;19664392;19683555;19761533;19830740;19846535;19850842;19861144;19875891;19877200;19897003;19926642;19934297;19936734;19968064;20082482;20082621;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20528243;20580654;20600442;20643584;20650299;20652381;20670355;20802150;20878400;21165439;21233146;21373785;21593779;21596150;22024796;22065905;22509813;22836042;22939905;22960345;23325834;23380384;23974321;24011088;24078689;24112428;24185760;24312130;24349500;24369024;24550293;24571473;7716543;7749980;8627176;8662091;9490415;9497500 100132285 K7R1S5;O43755;O75579;P43631;Q14950;Q32MZ1;Q6H2G8 AF074087;AF135565;AF285438;AJ002102;AJ002103;AJ002104;AJ002105;AM409094;AY320039;AY366243;AY366244;BC108917;BC119631;BC119632;BC125146;BC126856;CU464060;CU467816;FR750994;GL949748;GL949753;GU182339;GU182345;GU182347;GU182351;GU182357;L41347;L76667;L76668;NG_005994;NM_001291695;NM_001291696;NM_001291700;NM_001291701;NM_012312;U24079;X89893;XM_006725429;XM_006725653;XM_006725789 AAA65225;AAB36595;AAB36596;AAC26790;AAC50338;AAD48759;AAG34929;AAI08918;AAI19632;AAI19633;AAI25147;AAI26857;AAR16201;AAR16202;CAA05182;CAA05183;CAA05184;CAA05185;CAA61983;CAL64379;CAX15031;CBY85056;NP_001278624;NP_001278625;NP_001278629;NP_001278630;NP_036444;P43631;XP_006725492;XP_006725716;XP_006725852 Hs.512572;Hs.731378 1802494;1804244;1807352;1810486;1844326;1844328;1849467;2045962;2045968;2045970;2045972;2045974;2045976;2045978;2045980;2045986;2045988;2045990;2045992;2045994;2045996;2045998;2046000;2046002;2046006;2046008;2046010;2046014;2046016;2046018;2046024;2046030;2046040;2046044;2046096;2046102;2046118;2046174;2046176;2046192;2046202;2046204;2046206;2104256;2104258;2158971;5016436;5020724;5107975;5111062;5113128 ECD02133;ECD03046;ECD04647;ECD06236;ECD23377;ECD23378;REN94064;REN94067;REN94068;REN94069;REN94070;REN94071;REN94072;REN94073;REN94076;REN94080;REN94081;REN94082;REN94083;REN94084;REN94085;REN94086;REN94087;REN94089;REN94090;REN94092;REN94094;REN94099;REN94100;REN94104;REN94107;REN94112;REN94114;REN94146;REN94150;REN94159;REN94190;REN94191;REN94199;REN94210;REN94211;REN94212;RH18028;RH69059;RH76182;SHGC-35391;SHGC-35499;SHGC-35500;STS-U24075;stSG606296;stSG606297 1060P11.9.2;183ActI;CD158J;CD158b;MGC120018;MGC120020;MGC149477;MGC149478;NKAT-5;NKAT5;cl-49;p58 KIR CD158 antigen-like family member J;MHC class I NK cell receptor;NK receptor 183 ActI;killer cell immunoglobulin-like receptor 2DS2;killer-cell Ig-like receptor;killer-cell immunoglobulin-like receptor two domains short tail 2 protein;natural killer associated transcript 5;natural killer cell inhibitory receptor;natural killer-associated transcript 5;p58 NK receptor CL-49;p58 killer cell inhibitory receptor KIR-K7a;p58 natural killer cell receptor clone CL-49 APPROVED protein-coding HGNC:6334 604953 REVIEWED 1352085 KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 52276698 52288712 + 55235984 55248003 + 54724479 54736536 + 1580863;6480464;6907045 11513144;11960306;12477932;15730517;15778373;15896204;16391939;16403292;16634863;16823588;17490516;17498266;17868255;17900289;18074414;18186800;18347914;18571006;18643961;18668235;18778326;18848853;18945962;19000141;19032228;19046302;19169284;19218127;19279038;19309280;19326408;19450876;19489269;19527230;19630074;19683555;19761533;19846535;19861144;19875891;19897003;19926642;19968064;20082482;20082646;20173784;20173792;20193031;20200544;20210918;20210919;20331834;20356536;20426625;20483367;20492596;20519398;20580654;20600442;20643584;20650299;20652381;20670355;20878400;21607693;9862332 115653 K7R1S5;P43631;Q8N743 ABBA01068150;AC006293;AC243962;AC245128;AF072410;AF352324;AJ938052;AJ938053;AJ938054;AJ938055;AJ938056;AJ938057;AJ938058;AJ938059;AJ938060;AJ938061;AJ938062;AJ938063;AJ938064;AJ938065;AJ938066;AM493896;AY083462;AY320039;AY987937;AY987938;AY987939;AY987940;AY987941;AY987942;AY987943;BC136283;BC143802;CH471135;CU041368;CU459007;CU464054;CU464060;CU466259;CU467816;GU182338;GU182339;GU182340;GU182341;GU182342;GU182343;GU182344;GU182345;GU182346;GU182347;GU182348;GU182349;GU182350;GU182351;GU182352;GU182353;GU182354;GU182356;GU182357;GU182358;GU182360;GU182361;GU944889;HM999922;HM999929;NG_005994;NM_153443;XM_006725779;XM_006725780 AAC99763;AAD03159;AAI36284;AAI43803;AAK30258;AAM00024;ABC03227;ABC03228;ABC03229;ABC03230;ABC03231;ABC03232;ABC03233;ADJ94637;ADY38443;ADY90049;ADY90056;CAI79387;CAI79388;CAI79389;CAI79390;CAI79391;CAI79392;CAI79393;CAI79394;CAI79395;CAI79396;CAI79397;CAI79398;CAI79399;CAI79400;CAI79401;CAM35484;EAW72274;NP_703144;Q8N743;XP_006725842;XP_006725843 Hs.645224 1770744;1806338;1807500;1810030;1811380;1812874;1814852;1816212;1835898;2045850;2045852;2045854;2045856;2045858;2045860;2045862;2045864;2045866;2045868;2045870;2045872;2045874;2045876;2045878;2045880;2045882;2045884;2045886;2045888;2045890;2045892;2045894;2045896;2045898;2045900;2045902;2045904;2045906;2045908;2045910;2045912;2045914;2045916;2045918;2045920;2045922;2045924;2045926;2045928;2045930;2045932;2045934;2045936;2045938;2045940;2045942;2045944;2045946;2045948;2045950;2045952;2045954;2045956;2045958;2045960;2045962;2045964;2045966;2046126;2104236;2104238;2104240;2104242;2104244;2104246;2104248;2104250;2104252;2187779;5014275;5014283;5016436;5020724;5038184;5107975;5113128 ECD04124;ECD04722;ECD06007;ECD06688;ECD07450;ECD08457;ECD09147;ECD19110;G69474;REN94001;REN94002;REN94003;REN94004;REN94005;REN94006;REN94007;REN94008;REN94009;REN94013;REN94014;REN94015;REN94016;REN94017;REN94018;REN94019;REN94020;REN94021;REN94022;REN94023;REN94024;REN94025;REN94026;REN94027;REN94028;REN94029;REN94030;REN94031;REN94032;REN94035;REN94036;REN94037;REN94038;REN94039;REN94040;REN94041;REN94042;REN94043;REN94044;REN94045;REN94046;REN94047;REN94048;REN94049;REN94050;REN94051;REN94052;REN94053;REN94054;REN94055;REN94056;REN94057;REN94058;REN94059;REN94060;REN94061;REN94062;REN94063;REN94064;REN94065;REN94066;REN94122;REN94164;RH18028;RH76182;SHGC-35391;SHGC-35499;STS-L76672;stSG606270;stSG606271;stSG606272;stSG606273;stSG606274;stSG606275;stSG606276;stSG606277;stSG606278 CD158Z;KIR3DL7;KIR44;KIRC1 CD158 antigen-like family member Z;OTTHUMP00000068617;killer cell Ig-like receptor KIR3DL7;killer cell immunoglobulin-like receptor 3DL3;killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 3;killer cell inhibitory receptor 1 APPROVED protein-coding ENSG00000242019 HGNC:16312 17236 610095 REVIEWED 1348050 KIR2DS4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 52384874 52400626 + 55344174 55360023 + 54832676 54848569 + 1580863;6480464;6907045;8554872 10424431;10816589;11169255;11390475;12391228;12445308;12477932;14607943;15219381;15265913;15730517;15896204;16403292;16641046;17145370;17200871;17257315;17321903;17490516;17493145;17498266;17868255;18186800;18340360;18444913;18463675;18571006;18632158;18643961;18668235;18681957;18687225;18778326;18830515;18848853;18945962;19000141;19032228;19046302;19120281;19169284;19181658;19218127;19279038;19309280;19326408;19410616;19421224;19450876;19489269;19493232;19527230;19552960;19589363;19630074;19664392;19683555;19761533;19846535;19850842;19858347;19859704;19861144;19875891;19897003;19926642;19934297;19936734;19968064;20034528;20062104;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20580654;20600442;20643584;20650299;20652381;20670355;20878400;21206914;21216870;21554925;21596150;22128817;22939905;23028591;23325834;23354323;24112428;24239756;7749980;8662091;8765026;9378975;9521070 3809 P43632;Q86VI6;Q8NHJ0;Q9UQL7 ABBA01068150;AC011501;AC245128;AF002255;AF134312;AF134316;AF135563;AJ417554;AJ417555;AJ620615;AJ620616;AY102623;AY102624;AY366245;AY366246;AY388472;AY789064;BC096694;BC101977;BC103693;BC108918;BC125147;BC127084;BC144566;BC171788;CH471135;CU151839;CU464062;CU464063;DQ371638;DQ371639;DQ371640;DQ371641;DQ371642;DQ371643;GU182338;GU182340;GU182341;GU182342;GU182343;GU182344;GU182345;GU182346;GU182348;GU182349;GU182350;GU182351;GU182353;GU182354;GU182356;GU182357;GU182358;GU182360;GU182362;L76671;NM_001281971;NM_001281972;NM_012314;U24077;U96188;X94609 AAB36599;AAB54118;AAB61281;AAC50336;AAD24479;AAD48757;AAH96694;AAI01978;AAI03694;AAI08919;AAI25148;AAI27085;AAI44567;AAI71788;AAM52329;AAM52330;AAR16203;AAR16204;AAR26325;AAX23109;ABD38583;ADJ94510;ADJ94529;ADJ94536;ADJ94543;ADJ94552;ADJ94559;ADJ94569;ADJ94576;ADJ94595;ADJ94602;ADJ94608;ADJ94620;ADJ94634;ADJ94640;ADJ94655;ADJ94667;ADJ94674;ADJ94692;ADJ94698;CAA64317;CAD10378;CAD10379;CAF05810;CAF05811;EAW72287;EAW72288;NP_001268900;NP_001268901;NP_036446;P43632 Hs.654608 1810486;1849467;2046026;2046028;2046092;2046098;2046102;2046104;2046110;2046118;2046174;2158971;5016436;5020724;5107975;5111062;5113128 ECD06236;REN94105;REN94106;REN94144;REN94148;REN94150;REN94151;REN94154;REN94159;REN94190;RH18028;RH69059;RH76182;SHGC-35391;SHGC-35499;SHGC-35500;STS-U24075 CD158I;KIR1D;KIR2DS1;KIR412;KKA3;MGC120019;MGC125315;MGC125317;NKAT-8;NKAT8 CD158 antigen-like family member I;KIR antigen 2DS4;MHC class I NK cell receptor;OTTHUMP00000199030;P58 natural killer cell receptor clones CL-39/CL-17;killer Ig receptor;killer cell immunoglobulin-like receptor 2DS4;killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 1;killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 4;killer inhibitory receptor 4-1-2;natural killer cell inhibitory receptor;natural killer-associated transcript 8;p58 NK receptor CL-39/CL-17 APPROVED protein-coding ENSG00000221957 HGNC:6336 05387 604955 REVIEWED 1343393 KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011] 19 19 19 q13.4 52402500 52419267 + 55361898 55378670 + 54850443 54867215 + 1580863;6480464;6907045;8554872 10774747;10861046;11207248;11859120;11904677;12477932;12538663;12559621;14562047;14607943;15304002;15730517;15896204;16403292;16767680;16948642;16962036;17490516;17498266;17661911;17868255;18061949;18074414;18186800;18347914;18571006;18643961;18668235;18718052;18778326;18848853;18941190;18945962;19000141;19019897;19032228;19046302;19165527;19218127;19279038;19309280;19326408;19450876;19479859;19489269;19527230;19589363;19630074;19683555;19761533;19846535;19858347;19861144;19875891;19897003;19926642;19953898;19968064;20082482;20082646;20137308;20147700;20173784;20173792;20193031;20200544;20210918;20210919;20331834;20356536;20426625;20483367;20492596;20519398;20580654;20600442;20643584;20650299;20652381;20670355;20878400;21248258;21406041;21607693;22190034;22621189;23429988;23440420;7716543;7749980;8617928;8662091;8760804;8777725;9430221 3812 P43630;Q8NHI6;Q8NHK6 ABBA01068150;AC011501;AC245128;AF208683;AF208684;AF208685;AF208686;AF208687;AF208690;AF262965;AF262966;AF262967;AF263617;AJ276125;AW951147;AY059418;AY059419;AY059420;AY366256;AY789067;AY789068;AY789069;AY789070;AY789071;BC105678;BC107951;BP384308;CH471135;CU151839;CU459006;CU464055;CU464061;CU464062;CU464063;CU633846;DQ256504;DQ371620;DQ371621;DQ371622;DQ371623;DQ371624;DQ371625;DQ371626;DQ371627;DQ371628;EF582384;GU065736;GU182338;GU182339;GU182340;GU182341;GU182342;GU182343;GU182344;GU182345;GU182346;GU182347;GU182348;GU182349;GU182350;GU182351;GU182352;GU182353;GU182354;GU182355;GU182356;GU182357;GU182358;GU182359;GU182360;GU182362;HM854038;L41270;L76665;L76666;NG_012802;NM_001242867;NM_006737;U30272;X93595;X93596;X94373;X94374;Y11358 AAA69871;AAB36593;AAB36594;AAB52520;AAF29515;AAF29516;AAF29517;AAF29518;AAF29519;AAF29522;AAI05679;AAI07952;AAK30052;AAK30053;AAK30054;AAK30062;AAL27093;AAL27094;AAL27095;AAR16214;AAX23112;AAX23113;AAX23114;AAX23115;AAX23116;ABB71822;ABD38581;ABU62836;ADI95458;ADJ94537;ADJ94596;ADY90042;CAA63791;CAA63792;CAA64150;CAA64151;CAA72192;CAC35466;CAQ08880;EAW72289;EAW72290;NP_001229796;NP_006728;P43630 Hs.645228;Hs.645532;Hs.654605 1661873;1812936;1816212;2045882;2045968;2045970;2046058;2046214;2046398;2046518;2046542;2046544;2046552;2046554;2046556;2046560;2046568;2046570;2158971;5014380;5038382 ECD07482;ECD09147;ECD11136;ECD11215;REN94020;REN94067;REN94068;REN94123;REN94219;REN94319;REN94380;REN94393;REN94394;REN94398;REN94399;REN94400;REN94402;REN94406;REN94407;SHGC-35500;STS-X93596 CD158K;MGC125321;NKAT-4;NKAT4;NKAT4B;p140 CD158 antigen-like family member K;KIR antigen 3DL2;MHC class I NK cell receptor;OTTHUMP00000068689;OTTHUMP00000068690;killer Ig receptor;killer cell immunoglobulin-like receptor 3DL2;killer cell immunoglobulin-like receptor KIR3DL2;killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 2;natural killer associated transcript 4;natural killer cell inhibitory receptor;natural killer-associated transcript 4;p70 NK receptor CL-5;p70 killer cell inhibitory receptor;p70 natural killer cell receptor clone CL-5 APPROVED protein-coding ENSG00000240403 HGNC:6339 10384 604947 REVIEWED 1347492 KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 q13.4 115099 129113 + 13424 56333 - 1580863;6480464;6907045 10424431;10527385;11169255;12477932;12559621;15057824;15140215;15310528;15896204;16112031;16141329;16185272;16403292;16504727;16698429;16806233;16829306;17092261;17445179;17498266;17617375;17868255;17882223;18074414;18263639;18340360;18461314;18571006;18643961;18643963;18668235;18681957;18687225;18755860;18759923;18778326;18848853;18945962;19000141;19032228;19046302;19120281;19169284;19181658;19218127;19279038;19309280;19326408;19410616;19421224;19450876;19489269;19493232;19500138;19527230;19630074;19664392;19683555;19761533;19830740;19846535;19850842;19861144;19875891;19877200;19897003;19926642;19934297;19936734;19959527;19968064;20082482;20082646;20093094;20137308;20173784;20173792;20193031;20200544;20207982;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20528243;20580654;20600442;20643584;20650299;20652381;20670355;20826009;20878400;21145461;21355085;21479698;21791599;21797986;21844874;22653583;22931314;23380384;23394822;23554313;23831511;24091323;24529855;24778445;24839813;7650491;8627176;9430220;9430221;9464792 3806 B0L652;K7QUS8;Q14954;Q8N109 AF022046;AF285437;AL133414;AM999888;AY320039;BC096725;CU459006;EF690312;GL949747;GU182339;GU182347;GU182352;GU182355;GU182359;JX008030;NG_005994;NM_014512;X89892;X98858;XM_006725422;XM_006725423;XM_006725431;XM_006725432;XM_006725433;XM_006725439;XM_006725440;XM_006725642;XM_006725643;XM_006725657;XM_006725658;XM_006725659;XM_006725665;XM_006725666;XM_006725792;XM_006725793 AAB95319;AAG34928;AAI66637;ABV55503;ADJ94651;AFV74766;CAA61982;CAA67364;CAQ53833;NP_055327;Q14954;XP_006725485;XP_006725486;XP_006725494;XP_006725495;XP_006725496;XP_006725502;XP_006725503;XP_006725705;XP_006725706;XP_006725720;XP_006725721;XP_006725722;XP_006725728;XP_006725729;XP_006725855;XP_006725856 Hs.744319 1799396;1811226;1816700;1819722;1849467;2045990;2046000;2046016;2046018;2046068;2046084;2046118;2046154;2046156;2046158;2046162;2046164;2046166;2046168;2046170;2046172;2046174;2046176;2046178;2046180;2046184;2046186;2046188;2046190;2046192;2046194;2046196;2046200;2046202;2046204;2046206;2046208;2046252 ECD00549;ECD06611;ECD09393;ECD10931;REN94081;REN94086;REN94099;REN94100;REN94128;REN94138;REN94159;REN94180;REN94181;REN94182;REN94184;REN94185;REN94186;REN94187;REN94188;REN94189;REN94190;REN94191;REN94192;REN94193;REN94195;REN94196;REN94197;REN94198;REN94199;REN94201;REN94202;REN94205;REN94210;REN94211;REN94212;REN94214;REN94243;RH69059 CD158H;CD158a;KIR2DL5;KIR2DL5A;KIR2DL5B;p50.1 CD158 antigen-like family member H;KIR2DL1-KIR2DS1;MHC class I NK cell receptor Eb6 ActI;killer cell immunoglobulin-like receptor 2DS1;killer cell immunoglobulin-like receptor KIR2DL5B;killer cell immunoglobulin-like receptor KIRDS1;killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 5A;killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 1;killer-cell immunoglobulin-like receptor APPROVED protein-coding HGNC:6333 05384 604952 REVIEWED 1603443 KIR3DP1 killer cell immunoglobulin-like receptor, three domains, pseudogene 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. This gene is considered to be a pseudogene based on the absence of transcription and it lacks several functional domains compared to other killer cell immunoglobulin-like receptors. A rare haplotype, the result of a recombinantion event, has two copies of this gene, one of which may encode a secreted protein. (PMID: 15580659)[provided by RefSeq, Mar 2011] 19 19 19 q13.42 52338516 52342572 + 55297814 55301870 + 54786362 54790418 + 6480464;8554872 10820258;15194195;15580659;16403292;17498266;18186800;18347914;18571006;18668235;18687225;18778326;18848853;18945962;19000141;19169284;19218127;19279038;19309280;19405872;19450876;19527230;19683555;19761533;19846535;19861144;19897003;20082482;20082646;20193031;20200544;20210918;20426625;20492596;20600442;20650299;20652381;20670355;20878400 548594 A8MWS1 ABBA01068150;AC011501;AC243962;AC245128;AF133901;AF204919;AY320039;CU041368;CU459006;CU459007;CU467816;GU182338;GU182339;GU182340;GU182341;GU182342;GU182343;GU182344;GU182345;GU182346;GU182347;GU182348;GU182349;GU182350;GU182351;GU182352;GU182353;GU182354;GU182355;GU182356;GU182357;GU182358;GU182359;GU182360;GU182361;NG_005994;NG_033792 A8MWS1;AAD24475 1682868;1799396;1799806;1800186;1807088;1807352;1811226;1815164;1816288;1816700;1819056;1819722;1819844;1829458;1841260;2045982;2045990;2046000;2046010;2046016;2046018;2046034;2046044;2046070;2046084;2046090;2046130;2046140;2046142;2046144;2046146;2046148;2046150;2046152;2046154;2046156;2046158;2046160;2046162;2046164;2046166;2046168;2046170;2046172;2046174;2046176;2046178;2046180;2046182;2046184;2046186;2046188;2046190;2046192;2046194;2046196;2046198;2046200;2046202;2046204;2046206;2046208;2046210;2046212;2046214;2046216;2046218;2046220;2046222;2046224;2046226;2046228;2046230;2046232;2046234;2046236;2046238;2046240;2046242;2046244;2046246;2046248;2046250;2046252;2046254;2046256;2046258;2046260;2046262;2046264;2046266;2046268;2046270;2046272;2046274;2046276;2046278;2046280;2046282;2046284;2046286;2046288;2046290;2046292;2046294;2046296;2046298;2046300;2046302;2046304;2046306;2046308;2046310;2046312;2046314;2046316;2046318;2046320;2046322;2046324;2046326;2046328;2046330;2046332;2046334;2046336;2046338;2046340;2046342;2046396;2104264;2104266;2104268;2104270;2104272;2104274;2104276;2104278;2104280;2121622;2217520;2219166 CHLC.GAAT4F04;ECD00549;ECD00757;ECD00950;ECD04509;ECD04647;ECD06611;ECD08616;ECD09186;ECD09393;ECD10594;ECD10931;ECD10992;ECD15860;ECD21826;KIR2DL2_3394;KIR2DL3_2529;REN94074;REN94081;REN94086;REN94092;REN94099;REN94100;REN94109;REN94114;REN94131;REN94138;REN94141;REN94166;REN94173;REN94174;REN94175;REN94176;REN94177;REN94178;REN94179;REN94180;REN94181;REN94182;REN94183;REN94184;REN94185;REN94186;REN94187;REN94188;REN94189;REN94190;REN94191;REN94192;REN94193;REN94194;REN94195;REN94196;REN94197;REN94198;REN94199;REN94201;REN94202;REN94204;REN94205;REN94210;REN94211;REN94212;REN94214;REN94217;REN94218;REN94219;REN94223;REN94224;REN94225;REN94226;REN94227;REN94228;REN94229;REN94230;REN94231;REN94232;REN94235;REN94236;REN94237;REN94238;REN94239;REN94240;REN94241;REN94242;REN94243;REN94244;REN94245;REN94247;REN94249;REN94250;REN94251;REN94253;REN94254;REN94255;REN94256;REN94257;REN94258;REN94259;REN94260;REN94261;REN94262;REN94263;REN94264;REN94265;REN94266;REN94267;REN94268;REN94269;REN94270;REN94271;REN94272;REN94273;REN94274;REN94275;REN94276;REN94277;REN94278;REN94279;REN94280;REN94281;REN94282;REN94283;REN94284;REN94285;REN94286;REN94287;REN94288;REN94289;REN94290;REN94291;REN94318;RH76307;stSG606305;stSG606317;stSG606318;stSG606319;stSG606320;stSG606321;stSG606322;stSG606323;stSG606324 CD158c;KIR2DS6;KIR3DS2P;KIR48;KIRX APPROVED pseudo HGNC:16343 18682 610604 REVIEWED 5132806 KIRREL-IT1 KIRREL intronic transcript 1 (non-protein coding) 1 157995345 158001611 + 100505785 AL139010;XR_108362 miscrna HGNC:41412 MODEL 1349040 KIRREL kin of IRRE like (Drosophila) NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008] 1 1 1 q21-q25 131034468 131136921 + 157963063 158065846 + 157993273 158100262 + 1580863;6480464 11416156;12424224;12477932;12578837;12646566;12660326;12865409;14702039;15144186;15489334;16968734;17968527;18258597;18562307;18922801;20507940;21139048;21402783;21706016;21890473;21963094;22053931;22262837;22505724;23000965;23251661;24255178;24554715 55243 B4DN67;Q5W0F9;Q5W0G0;Q96J84 AA628934;ABBA01016633;ABBA01016634;AK001707;AK022708;AK090554;AK094163;AK096361;AK098412;AK297788;AL139010;AMYH02001999;AMYH02002000;AY017369;AY302131;BC025268;BC051356;BC067097;BC082969;BC109192;BC109193;CH471121;NM_001286349;NM_018240;XM_005245305;XM_005245306;XM_006711430 AAH25268;AAH51356;AAH67097;AAH82969;AAI09193;AAI09194;AAK00529;AAP59845;BAA91850;BAB14192;BAC03476;BAG60129;EAW52852;EAW52853;EAW52854;EAW52855;NP_001273278;NP_060710;Q96J84;XP_005245362;XP_005245363;XP_006711493 Hs.272234;Hs.609291;Hs.657006 1709310;2219854 KIRREL__6520;SHGC-81641 FLJ10845;MGC129542;MGC129543;NEPH1 OTTHUMP00000024054;OTTHUMP00000024055;OTTHUMP00000024056;kin of IRRE-like protein 1;kin of irregular chiasm-like protein 1;nephrin related;nephrin-like protein 1 APPROVED protein-coding ENSG00000183853 HGNC:15734 06306 607428 VALIDATED 1352733 KIR3DS1 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] 19 q13.4 70097 84658 + 1580863;7240710 11098931;11859120;12134147;12477932;12826375;15580659;15896204;15942906;16508981;16698429;16698433;16805919;17182560;17200871;17202323;17301953;17490516;17592337;17641029;17646980;17687550;17694054;17868255;17882223;17990989;17997746;18025129;18074414;18297378;18305035;18317000;18331531;18340360;18351333;18571006;18638658;18643961;18668235;18687225;18778326;18830515;18848853;18945962;19000141;19008943;19019897;19032228;19046302;19120281;19169284;19181658;19211742;19218127;19279038;19309280;19326408;19386717;19411600;19421224;19450876;19454667;19489269;19493232;19522772;19527230;19630074;19664392;19683555;19761533;19846535;19850842;19859704;19861144;19874556;19875891;19897003;19926642;19934297;19936734;19968064;20082482;20082646;20124216;20131260;20137308;20173784;20173792;20193031;20207982;20210918;20210919;20230527;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20528243;20562327;20580654;20600442;20643584;20650299;20652381;20670355;20818412;20878400;21233146;21665278;21779711;21804024;22426166;22652695;22653583;22744805;23325834;23394822;23524032;23613999;23789883;24059286;24308671;24405495;24499056;24601832;8662091;9059894;9430220;9430221 3813 O43469;Q14943;Q4KN23;Q99565 AF022044;AJ417558;AK301140;AY320039;AY760032;AY760055;AY760056;BC098107;BC098288;BC105679;DC390157;DQ371588;DQ371589;DQ371590;DQ371591;DQ371592;DQ371593;DQ371594;DQ371595;EF370406;EF582383;EU156175;GU182339;GU182347;GU182352;GU182355;GU182359;HE613424;JX008028;KF500015;KF500016;KF500017;KF500022;L76661;NG_005994;NM_001083539;NM_001282170;NM_001282171;U73396;X97232;X97233;XM_005272923 AAB36589;AAB95317;AAC51148;AAH98107;AAH98288;AAI05680;AAV32445;AAX89526;AAX89527;ABD38579;ABU62835;ABX88986;ADJ94519;ADJ94585;ADJ94625;ADJ94649;ADJ94684;AFV74754;AHG50462;AHG50468;AHG50469;AHG50474;BAG62732;CAA65871;CAA65872;CAD10382;CCE67068;NP_001077008;NP_001269099;NP_001269100;Q14943;XP_005272980 Hs.743496 1810030;1812936;1814194;1849467;2046184;2046228;2046488;2046490;2046492;2046494;2046496;2046498;2046500;2046502;2046504;2046506;2046508;2046510;2046512;2046514;2046516;2046518;2046528;2046530;2046532;2046534;2046536;2046538;2046540;2046542;2046546;2046548;2046550;2046552;2046554;2046556;2046558;2046562;2046564;2046566;2046568;2046570;2046572;2046574;2046576;2104298;2104302;2158971;2219166;5016436;5020724;5107975;5111062;5113128 ECD06007;ECD07482;ECD08126;KIR2DL3_2529;REN94195;REN94229;REN94364;REN94365;REN94366;REN94367;REN94368;REN94369;REN94370;REN94372;REN94373;REN94374;REN94375;REN94376;REN94377;REN94378;REN94379;REN94380;REN94385;REN94386;REN94387;REN94389;REN94390;REN94391;REN94392;REN94393;REN94395;REN94396;REN94397;REN94398;REN94399;REN94400;REN94401;REN94403;REN94404;REN94405;REN94406;REN94407;REN94408;REN94409;REN94410;RH18028;RH69059;RH76182;SHGC-35391;SHGC-35499;SHGC-35500;STS-U24075;stSG606335;stSG606337 CD158E2;KIR-123FM;KIR-G1;MGC119726;MGC119728;MGC125316;NKAT10 MHC class I NK cell receptor;NKAT-10;killer Ig receptor;killer cell immunoglobulin-like receptor 3DS1;killer cell immunoglobulin-like receptor KIR3DS1;killer cell immunoglobulin-like receptor three domains short cytoplasmic tail 1;natural killer-associated transcript 10 APPROVED protein-coding HGNC:6340 609423 REVIEWED 1602993 KIR3DX1 killer cell immunoglobulin-like receptor, three domains, X1 FOUND IN extracellular region (inferred); INTERACTS WITH fonofos; parathion; terbufos 19 19 19 q13.42 52084442 52095734 + 55043909 55055195 + 54532692 54545768 + 6480464 11441184;12477932;14702039;16911775;20098747;20237496;21145461 90011 F2Z2P8;F8WDC3;Q9H7L2 ABBA01068151;ABBA01068152;AC009892;AC104536;AC245036;AK024467;BC033195;BC171827;BC171832;BC171834;BC171838;BC171839;CH471135;CU024913;CU234142;DQ224421;NR_026716;NR_104095;NR_104096;NR_104097 ABB53378;BAB15757;EAW72255;EAW72256;Q9H7L2 Hs.288520 1801768;1806456;1807556;1808950;1809014;1809154;1811794;1822640;1827398;1827890;1829828;1842514;1843726;2044316;2044318;2044320;2044322;2044324;2044326;2044328;2044330;2044332;2044334;2044336;2044338;2044340;2044342;2044344;2044346;2044348;2044350;2044352;2044354;2044356;2044358;2044360;2044362;2044364;2044366;2044368;2044370;2044372;2044374;2044376;2044378;2044380;2044382;2044384;2044386;2044388;2044390;2044392;2044394;2044396;2044398;2044400;2044402;2044404;2044406;2044408;2044410;2044412;2044414;2044416;2044418;2044420;2044422;2044424;2044426;2044428;2044430;2044432;2104056;2104058;2104060;2104062;2104064;2104066;5014051;5021872;5022578 D1S1423;D8S2278;ECD01765;ECD04184;ECD04750;ECD05458;ECD05494;ECD05566;ECD06901;ECD12408;ECD14815;ECD15068;ECD16047;ECD22464;ECD23074;REN93211;REN93212;REN93213;REN93214;REN93215;REN93216;REN93217;REN93218;REN93219;REN93220;REN93221;REN93222;REN93223;REN93224;REN93225;REN93226;REN93227;REN93228;REN93229;REN93230;REN93231;REN93232;REN93233;REN93234;REN93235;REN93236;REN93237;REN93238;REN93239;REN93240;REN93241;REN93242;REN93243;REN93244;REN93245;REN93246;REN93247;REN93248;REN93249;REN93250;REN93251;REN93252;REN93253;REN93254;REN93255;REN93256;REN93257;REN93258;REN93259;REN93260;REN93261;REN93262;REN93263;REN93264;REN93265;REN93266;REN93267;REN93268;REN93269;sY3084;stSG606144;stSG606145;stSG606146;stSG606147;stSG606149;stSG606152 FLJ00060;KIR3DL0;LENG12 pseudo ENSG00000104970 HGNC:25043 13328 VALIDATED 6481084 KIRREL3-AS1 KIRREL3 antisense RNA 1 100874250 AP000741;BJ989483 Hs.694484 APPROVED ncrna HGNC:42655 6481087 KIRREL3-AS2 KIRREL3 antisense RNA 2 11 11 126810642 126814986 + 126940746 126945090 + 12477932;18464913 100874251 ABBA01022998;AMYH02025755;AP002833;AW303325;BC031955;HG504305;NR_046986 Hs.319053 APPROVED ncrna ENSG00000254960 HGNC:42656 VALIDATED 1318234 KIRREL2 kin of IRRE like 2 (Drosophila) INVOLVED IN negative regulation of protein phosphorylation (inferred); single organismal cell-cell adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); slit diaphragm (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 19 19 19 q13.12 33061989 33072232 + 36342552 36358048 + 35856908 35867146 + 6480464;8554872 11230166;12477932;12504092;12837264;12975309;15340161;15489334;16741999;19703278;19913121;20237496;20628086;21697133;21980157;24219158;8889548 84063 K7EJS8;Q6UWL6;V9GXZ7 AB593116;ABBA01018771;AC002133;AD000864;AK307865;AL136654;AMYH02035992;AX521478;AY305301;AY305302;AY358742;BC007312;BC064925;BM693057;BU730182;KC877729;NG_013356;NM_032123;NM_199179;NM_199180 AAH07312;AAH64925;AAP72166;AAP72167;AAQ89102;BAJ84056;CAB66589;CAD52967;NP_115499;NP_954648;NP_954649;Q6UWL6 Hs.145729 1734144 D19S610 DKFZP564A1164;MGC15718;NEPH3;NLG1 FILTRIN;kin of IRRE-like protein 2;kin of irregular chiasm-like 2;kin of irregular chiasm-like protein 2;nephrin-like 3;nephrin-like gene 1;nephrin-like protein 3 protein-coding ENSG00000126259 HGNC:18816 08473 607762 VALIDATED 1352127 KISS1 KiSS-1 metastasis-suppressor This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012] 1 1 1 q32 177294719 177301077 - 204159469 204165619 - 204190341 204196491 - 1580863;2292123;2292132;2289400;2292135;2302169;2302170;2292128;2292136;2298668;2292127;6480464;8699517;7240710 12547718;15592684;15949424;16283480;16320113;16757546;16952198;17164231;17914099;18005407 11060311;11385580;11387329;11457843;11527393;11606374;11994395;12414911;12477932;12574233;12650602;12879005;12898236;12944565;14977840;15020672;15144186;15219839;15300798;15489334;15498874;15500545;15596153;15598687;16034182;16146758;16174713;16260418;16650418;16710414;16731583;16754659;16964286;17023533;17323132;17334929;17488799;17520389;17562263;17609410;17659469;17695545;17959544;18211678;18252956;18317999;18351443;18395325;18434521;18437914;18583061;18644390;18682503;19109311;19112386;19141682;19154616;19201817;19212644;19286835;19533666;19536175;19575900;19582702;19645016;19895172;19898965;19955756;20022159;20066900;20139371;20213218;20237166;20301509;20303258;20362959;20379614;20392988;20446240;20529119;20534720;20631455;20699467;20727862;20734064;20800054;20816945;20833219;20858464;20951797;21169415;21295095;21347414;21383688;21544801;21672609;21683672;21738347;21804632;21827808;21831501;21832049;21847585;21880801;21928364;21996032;22132116;22168508;22193294;22209985;22210725;22230814;22320990;22320993;22335740;22343183;22349353;22367780;22395416;22424618;22471458;22473757;22526494;22553409;22556014;22672861;22681921;22728025;22768662;22769053;22770630;22899305;22959969;23011920;23015653;23132294;23145030;23152107;23318438;23510953;23549999;23550000;23550001;23550003;23550004;23550006;23550008;23550009;23550010;23550011;23550012;23550013;23550015;23550016;23550018;23550019;23571154;23696833;23716269;23784200;23809625;23869023;23900657;23969598;24033850;24225150;24273038;24295737;24351292;24454770;24596387;8944003;9185708;9192814;9806840 3814 Q15726 ABBA01027449;ABBA01027450;AF218017;AK291695;AL592114;AMYH02002532;AY117143;BC022819;CH471067;HC007062;NG_032151;NM_002256;U43527 AAC79512;AAG17259;AAH22819;AAM78592;ABM83725;ABM87045;BAF84384;CBH19336;EAW91506;EAW91507;NP_002247;Q15726 Hs.95008 1725641;1768233;1769636;2136614;2163171;2183961 G62032;RH35953;SHGC-33412;SHGC-76112;SHGC-76186;STS-T52659 HH13;KiSS-1;MGC39258 OTTHUMP00000034312;kisspeptin;kisspeptin-1;malignant melanoma metastasis-suppressor;metastasis-suppressor KiSS-1;metastin;prepro-kisspeptin APPROVED protein-coding ENSG00000170498 HGNC:6341 04475 603286;614842 REVIEWED 735895 KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 52368593 52382933 + 55327893 55342233 + 54816438 54830778 + 6480464;6907045;7240710;8554872 10774747;11098931;11207248;11733001;11859120;11904677;12244166;12477932;12538663;12559621;12794136;12826375;14607943;14662867;15217996;15580659;15730517;15784466;15896204;15942906;16210627;16403292;16508981;16805919;16818466;17182537;17182560;17200871;17202323;17301953;17383044;17385087;17462498;17490516;17493145;17498266;17694054;17714418;17868255;17950922;17990989;18186800;18269867;18301382;18331531;18340360;18358829;18385451;18453594;18502829;18515573;18549610;18571006;18614872;18632158;18638658;18643961;18668235;18687225;18718052;18778326;18800608;18830515;18848853;18941220;18945962;19000141;19000148;19008943;19019897;19032228;19046302;19116110;19118512;19120281;19151793;19169284;19176033;19181658;19211742;19218127;19279038;19309280;19326408;19386717;19411600;19421224;19450876;19489269;19493232;19522772;19527230;19549379;19630074;19664392;19675166;19683555;19752231;19761533;19846535;19850842;19859704;19861144;19874556;19875891;19897003;19926642;19934297;19936734;19968064;20028428;20061407;20082482;20082646;20131260;20137308;20173792;20193031;20200544;20207982;20210918;20210919;20210921;20230527;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20528243;20574122;20580654;20600442;20631304;20643584;20650299;20652381;20664023;20670355;20818412;20878400;20887224;20935224;21115737;21206914;21471235;21471246;21616111;21690332;21696085;21726204;21746965;21797986;21988832;22020283;22190034;22803950;22842045;23266622;23328843;23354323;23436464;23524032;23984333;24059286;24173144;24349500;24367901;24563253;7650366;7716543;7749980;8046332;8662091;8760804;8777725;9059894;9430220;9430221;9894849 3811 F6QF33;P43629;Q15702;Q5UCE2;Q8N6C9;W4VSQ6 ABBA01068150;AC011501;AC243962;AC245128;AF022049;AF103010;AF103011;AF103012;AF103013;AF104856;AF105239;AF208688;AF208689;AF262968;AF262969;AF262970;AF262971;AF262972;AF262973;AF262974;AJ417556;AJ417557;AY366236;AY366249;AY366250;AY366251;AY366252;AY723746;AY760023;AY760024;AY760025;AY760026;AY760027;AY760028;AY760029;AY760030;AY760031;AY760034;AY760035;AY760036;AY760050;AY789065;AY789066;AY789072;BC028206;BC101540;BC101542;CH471135;CU041368;CU151839;DQ178659;DQ371579;DQ371580;DQ371581;DQ371582;DQ371583;DQ371584;DQ371585;DQ371586;DQ371587;EF462885;EF472674;EF472675;EF472676;EF472677;EF472678;EF472679;FJ158650;GU182338;GU182340;GU182341;GU182342;GU182343;GU182344;GU182345;GU182346;GU182348;GU182349;GU182350;GU182351;GU182353;GU182354;GU182356;GU182357;GU182358;GU182360;GU182361;L41269;L76664;NG_021414;NM_013289;U30273;U30274;U31416;U33328;X94262 AAA69870;AAB36592;AAB52521;AAB52522;AAB95322;AAC23725;AAC23726;AAC83927;AAC83928;AAC83929;AAC83930;AAF29520;AAF29521;AAF61291;AAF61292;AAH28206;AAI01541;AAI01543;AAK30055;AAK30056;AAK30057;AAK30058;AAK30059;AAK30060;AAK30061;AAR16194;AAR16207;AAR16208;AAR16209;AAR16210;AAU29054;AAV32436;AAV32437;AAV32438;AAV32439;AAV32440;AAV32441;AAV32442;AAV32443;AAV32444;AAV32447;AAV32448;AAV32449;AAX23110;AAX23111;AAX23117;AAX89521;ABA56493;ABD38578;ABM82005;ABM85187;ABR88120;ABR88121;ABR88122;ABR88123;ABR88124;ABR88125;ABS53052;ACJ37424;ADJ94535;CAA63938;CAD10380;CAD10381;EAW72284;EAW72285;EAW72286;NP_037421;P43629 Hs.645228 1682868;1810030;1812936;2045952;2046134;2046184;2046226;2046246;2046268;2046488;2046490;2046492;2046494;2046496;2046498;2046500;2046502;2046504;2046506;2046508;2046510;2046512;2046514;2046516;2046518;2046520;2046522;2046524;2046526;2046528;2046530;2046532;2046534;2046536;2046538;2046540;2046542;2046544;2046546;2046548;2046550;2046552;2046554;2046556;2046558;2046560;2046562;2046564;2046566;2046568;2046570;2046572;2046574;2046576;2104262;2104300;2135328;2217522;5014283;5016436;5020724;5038184;5095822;5107975;5111062 ECD06007;ECD07482;KIR3DL1_3398;REN94057;REN94062;REN94122;REN94169;REN94195;REN94228;REN94240;REN94254;REN94364;REN94365;REN94366;REN94367;REN94368;REN94369;REN94370;REN94372;REN94373;REN94374;REN94375;REN94376;REN94377;REN94378;REN94379;REN94380;REN94381;REN94382;REN94383;REN94384;REN94385;REN94386;REN94387;REN94389;REN94390;REN94391;REN94392;REN94393;REN94394;REN94395;REN94396;REN94397;REN94398;REN94399;REN94400;REN94401;REN94402;REN94403;REN94404;REN94405;REN94406;REN94407;REN94408;REN94409;REN94410;RH18028;RH76307;RH79143;SHGC-35391;SHGC-35499;STS-U24075;STS-X97229;stSG606302;stSG606336 CD158E1;KIR;KIR3DL1/S1;MGC119726;MGC119728;MGC126589;MGC126591;NKAT-3;NKAT3;NKB1;NKB1B CD158 antigen-like family member E;HLA-BW4-specific inhibitory NK cell receptor;KIR antigen 3DL1;MHC class I NK cell receptor;NK-receptor;OTTHUMP00000068687;OTTHUMP00000068688;OTTHUMP00000081758;killer Ig receptor;killer cell immunoglobulin-like receptor 3DL1;killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 1;natural killer-associated transcript 3;p70 NK receptor CL-2/CL-11;p70 killer cell inhibitory receptor;p70 natural killer cell receptor clones CL-2/CL-11 APPROVED protein-coding ENSG00000167633 HGNC:6338 09226;10034 604946;609423 REVIEWED 4143040 KIRREL3-AS3 KIRREL3 antisense RNA 3 11 11 11 q24.2 124040185 124041012 + 126872805 126875953 + 127002910 127006058 + 12477932;14702039;15489334;20237496 283165 Q14CW7;Q8N7Y1 ABBA01022998;AK097543;AMYH02025755;AP002833;BC113593;BC113597;CH471065;HG504308;NR_040078 AAI13594;AAI13598;BAC05095;EAW67703;Q8N7Y1 Hs.730461 5493229 UniSTS:485411 FLJ40224;NCRNA00288;PRR10 APPROVED ncrna ENSG00000218109 HGNC:26855 08274 VALIDATED 9068711 KIZ-AS1 KIZ antisense RNA 1 20 20 21134667 21198905 - 21194404 21218289 - 12477932 101929591 ABBA01054100;AL110120;AMYH02036812;BC034426;BC042893;HG511240;HG511241;HG511242;HG511243;KF459716;KF511297;NR_109956 Hs.656066 ncrna ENSG00000232712 HGNC:51231 VALIDATED 731975 KISS1R KISS1 receptor The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 849702 853371 + 917342 921015 + 917342 921015 + 70752;1599279;704404;1599280;1580863;2292123;2292127;6480464;7240710;8554872;8699517 10100623;11994395;12944565;17164231;17914099 11385580;11387329;11414709;11457843;11527393;12414911;12477932;12788881;12879005;12898236;14573733;14977840;15020672;15057824;15519892;15596153;15598687;16034182;16309735;16322390;16731583;16754659;17023533;17334928;17700012;18005407;18395325;18463157;18583061;18682503;18772143;18977201;19112386;19201817;19286835;19331211;19453261;19489874;19506390;19846537;20237166;20301509;20371656;20374724;20734064;21169415;21193544;21282360;21285314;21912371;21996032;22132116;22193294;22210725;22424618;22526494;22619348;23015653;23070548;23277422;23349759;23525242;23550000;23550001;23550005;23608644;23696833;23716269;23969598;24225150;24295737;24596387 84634 K7EQ45;Q969F8;U3KQ86 AA887801;AB051065;ABBA01002609;AC005379;AF343725;AJ309020;AMYH02035129;AY029541;AY253981;AY253982;BC140825;BC141812;CA432866;CH471139;CQ878955;CQ891716;EU883577;NG_008277;NM_032551 AAI40826;AAI41813;AAK33126;AAK83235;AAP82929;AAP82930;ACG60651;BAB55446;CAC40817;CAH60299;CAH68808;EAW69583;NP_115940;Q969F8 Hs.208229 1793122;1793124;1793126;1793128 PMC196911P1;PMC196911P2;PMC196911P3;PMC196911P4 AXOR12;CPPB1;GPR54;HH8;HOT7T175;KISS-1R G protein-coupled receptor 54;G-protein coupled receptor 54;G-protein coupled receptor OT7T175;hypogonadotropin-1;kiSS-1 receptor;kisspeptins receptor;metastin receptor APPROVED protein-coding ENSG00000116014 HGNC:4510 09167 176400;604161;614837 REVIEWED 737118 KITLG KIT ligand This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q22 88556999 88644657 - 88886570 88974250 - 88492793 88580473 - 1299516;1580863;6480464;7240710;8554872;8699517 2208279 10049787;10224464;10320642;10880433;10884405;10901444;11124255;11159541;11905054;11920266;11999217;12002675;12062186;12123753;12297464;12393403;12393703;12421569;12429808;12445210;12477932;12481031;12556557;12637332;12666065;12753403;12829027;1375232;1378327;1379846;1381905;1383693;1427906;14628073;14654075;14662725;14691917;14702039;14985355;15140230;15145934;15217825;15308671;15337769;15355893;15378028;15474101;15475566;15489334;15504546;15504551;15526160;15526978;15576295;15728521;15781331;15866728;16015044;16181409;16213778;16479403;16616334;16647379;16709604;16780589;16905672;1707188;17115933;17175329;17191042;17207965;1724381;17257055;17289809;17410437;17556598;17662946;17687495;17848411;17855052;17952075;18026739;18042633;18083106;18166170;18239612;18339685;18372228;18499891;18602222;18684968;18830255;18834862;18928604;19001805;19074504;19196101;19197368;19285034;19342032;19375057;19416273;19480722;19481739;19483681;19483682;19492092;19570824;19675587;19897599;19912360;19913121;20028869;20117079;20131076;20237496;20305142;20337985;20353940;20384797;20396801;20543847;20596251;20608808;20628086;20857409;21094786;21106245;21161069;21257825;21281800;21320746;21368769;21617256;21636540;21763396;21799876;21906983;21963094;22004924;22072546;22140272;22194441;22204707;22279057;22349512;22467521;22533504;22833529;23060556;23125456;23185384;23222517;23273644;23548203;23662587;23666239;23666240;23680593;23703692;23771924;24083421;24116170;24120139;24449920;24790137;24880339;7528592;7529021;7545103;7680037;8626683;9113989;9239726;9269751;9371281;9590652;9722506;9889281 4254 P21583;Q16493;S4R384;S4R442 ABBA01053424;AC024941;AF119835;AF400436;AF400437;AK025245;AK055903;AK290319;AK293002;AMYH02026901;BC069733;BC069783;BC069797;BC074725;BC126166;BC143899;BX474960;CH471054;CR749222;DC320486;KF455690;M59964;NG_012098;NM_000899;NM_003994;S42571;S45995 AAA85450;AAB22846;AAB23573;AAD22048;AAH69733;AAH69783;AAH69797;AAH74725;AAI26167;AAI43900;AAK92485;AAK92486;ADQ31957;BAF83008;BAF85691;CAH18078;EAW97416;EAW97417;EAW97418;EAW97419;NP_000890;NP_003985;P21583 Hs.1048 1648330;2123689;2137597;2187351;5491386 D12S1453;K-F2_K-R2;MGF;RH11244;RH17708 DKFZp686F2250;FPH2;KL-1;Kitl;MGF;SCF;SF;SHEP7;kit-ligand OTTHUMP00000242388;OTTHUMP00000242389;OTTHUMP00000242390;c-Kit ligand;familial progressive hyperpigmentation 2;mast cell growth factor;steel factor;stem cell factor APPROVED protein-coding HGNC:6343 01698 145250;184745;611664 REVIEWED 1316045 KIZ kizuna centrosomal protein The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 20 20 20 p11.23 21183174 21303815 + 21106624 21227260 + 21125983 21246622 + 6480464 12477932;16980960;19536135;22797925;24680887 55857 B4DEC7;Q2M2Z5;Q69YZ6 ABBA01054100;AF220187;AF451990;AK025476;AK293166;AK293567;AK295355;AK296399;AL110120;AL110196;AL117332;AL121759;AMYH02036812;BC013055;BC039296;BC045826;BC065550;BC090879;BC105093;BC113370;CH471133;DC386700;KF459716;KF511292;KF511297;NG_033122;NM_001163022;NM_001163023;NM_001276389;NM_018474 AAF67652;AAH39296;AAH45826;AAH65550;AAH90879;AAI05094;AAI13371;AAP97689;BAG56710;BAG57038;BAG58321;BAG59066;CAH10726;EAX10188;EAX10189;EAX10190;EAX10191;EAX10192;EAX10193;NP_001156494;NP_001156495;NP_001263318;NP_060944;Q2M2Z5 Hs.187635 1655105;1668323;1725251;2114016;2184236 AB060251;RH118919;RH66519;STS-T79955;Z94688 C20orf19;DKFZp586H021;HT013;MGC102941;MGC141930;NCRNA00153;PLK1S1;RP69 Kizuna;centrosomal protein kizuna;polo-like kinase 1 substrate 1 APPROVED protein-coding ENSG00000088970 HGNC:15865 12760 615757;615780 REVIEWED 1604985 KLB klotho beta ENCODES a protein that exhibits fibroblast growth factor binding; INVOLVED IN carbohydrate metabolic process (inferred); epidermal growth factor receptor signaling pathway (inferred); Fc-epsilon receptor signaling pathway (inferred); PARTICIPATES IN fibroblast growth factor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; hydrogen peroxide 4 4 4 p14 39846293 39890979 + 39408473 39453153 + 39406853 39451533 + 6480464;6484113;8554872 12477932;15489334;16358222;17627937;17711860;18259951;18829467;19059246;19117008;20657013;20717167;20800603;21396369;21653700;22020932;22248288;22271411;22439738;22442730;22523080;23383245;24200957 152831 B4DYH5;Q86Z14 AB079373;ABBA01004121;ABBA01004122;ABBA01004123;ABBA01004124;ABBA01004125;AC021148;AC023135;AK302436;AMYH02009054;BC033021;BC104871;BC113653;BC143575;BJ993426;CH471069;NM_175737;XM_005262644 AAH33021;AAI04872;AAI13654;AAI43576;BAC56857;BAG63737;EAW92925;NP_783864;Q86Z14;XP_005262701 Hs.90756 1701234;1851883;5015961;5024761;5037552 D15S1477;D8S2279;RH104245;RH36905;SHGC-67244 BKL;MGC142213 OTTHUMP00000158728;beta-klotho;betaKlotho;klotho beta like;klotho beta-like protein protein-coding ENSG00000134962 HGNC:15527 14097 611135 VALIDATED 732783 KL klotho This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008] 13 13 13 q12 14657386 14707106 + 33590571 33640282 + 33016063 33066145 + 1581727;1581721;1581730;1581732;1581723;1581599;1580863;6480464;6907045;7240710;8699517;8554872 10892340;15037532;15677572;16436388;16579981;16979405 10579907;10629055;10631108;11043382;11137391;11162628;11792841;12110410;12369777;12669274;12771308;14534538;14702039;15057823;15135068;15763166;15784727;16151675;16262891;16325773;16753056;16955217;16957409;16973281;17014852;17086194;17202338;17205327;17270470;17332731;17339340;17408468;17624411;17710231;17711860;18034366;18308935;18465812;18547997;18591743;18660672;18678710;18682507;18756295;18762812;18818748;18829467;18974842;19019335;19019915;19056867;19077115;19119257;19121771;19230844;19246844;19329831;19349416;19411745;19419323;19421891;19453261;19480830;19527514;19539617;19680556;19690404;19756714;19802015;19878569;19890272;19913121;19913601;20005218;20068287;20140262;20345435;20379614;20394945;20466664;20482749;20628086;20654748;20685863;20686451;20800603;20832068;20955350;21075474;21093413;21115613;21209102;21336305;21376714;21389697;21406293;21411554;21422754;21523445;21529984;21543107;21565945;21571866;21663735;21671493;21695423;21734097;21769735;21818545;21832856;21852584;21859400;21945708;21948763;21982773;22042362;22045427;22193235;22212556;22217880;22245317;22338084;22360923;22396167;22452701;22457086;22492635;22530731;22551879;22590958;22710352;22715479;22782974;22836100;22922788;23000105;23123137;23147162;23176706;23180879;23235154;23248036;23334987;23337450;23360820;23431388;23433103;23437382;23516476;23552627;23559584;23603386;23634661;23652546;23652548;23652549;23652554;23665422;23707222;23711492;23756195;23770558;23818104;23929932;23941507;23993164;24107965;24157012;24165855;24217253;24224012;24606097;24745611;24864466;24939736;9363890;9464267 9365 B3KUJ4;Q9UEF7 AA890465;AB005142;AB009667;ABBA01010153;ABBA01010154;AK097349;AL161898;AMYH02027832;CB988086;CH471075;FB571443;KF511201;NG_011485;NM_004795;XM_006719895;Z84483;Z92540 BAA23382;BAA24940;BAA24941;BAG53456;CAC94767;CAC94773;CAR95139;EAX08525;EAX08526;NP_004786;Q9UEF7;XP_006719958 Hs.524953 1705400;1782810;1782960;2169140;2219866 G31530;KL__6522;SHGC-106169;SHGC-170589;SHGC-83563 OTTHUMP00000018796 1643403 BMD8_H APPROVED protein-coding ENSG00000133116 HGNC:6344 05316 211900;604824 REVIEWED 1352040 KLC1 kinesin light chain 1 Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq, Jul 2008] 14 14 14 q32.3 84149802 84222132 + 104095525 104167888 + 103629188 103701551 + 1580863;5684008;5683912;5683914;5683908;5684007;6480464;8554872 15364413;17917076;17977659;17999208;19911314 10491391;10806115;11106729;11144355;11238452;11907332;12475239;12477932;12594206;12800201;12839500;12893827;14702039;15324660;15342556;15489334;15778465;15905402;15987681;16084724;16169070;16301330;16344560;16964243;17081983;17332754;17353931;17611642;17653041;17825299;17893145;17979178;19046961;19717019;19773279;19861499;19913121;19946888;20601096;20628086;21139048;21385839;21890473;21900206;21906983;21915095;22272245;22470497;22863883;22939629;23776437;24116125;24457600;24497505;24816145;8274221;8786116;8945637;9450959;9624122 3831 F8W6L3;G3V2E7;G3V2P7;G3V3H3;G3V5R9;G5E9S8;H0YG16;H0YGB8;H0YJK1;H0YJL0;H0YJT3;H0YJU9;Q07866;Q7RTQ2 AB451299;AB451431;ABBA01048412;ABBA01048413;ABBA01048414;ABBA01048415;ABBA01048416;ABBA01048417;AF267530;AF527736;AK054874;AK294508;AL049840;AL133587;AL139300;AMYH02029929;AMYH02029930;AY180163;AY180164;AY180165;AY180166;AY180167;AY180168;AY180169;AY180170;AY244715;BC008881;BK000678;BK000679;BK000680;BK000681;BK000682;BK000683;BK000684;BK001163;BK001164;BK001165;BK001166;BK001167;BK001168;BK001169;BK001170;BK001171;BK001172;BM988840;BP274336;BP396130;BQ002171;CA433051;CB050619;CH471061;DA501532;HG506679;HG506680;L04733;NG_012307;NM_001130107;NM_005552;NM_182923;X69658 AAA16576;AAF72543;AAH08881;AAO62548;AAO62549;AAO62550;AAO62551;AAO62552;AAO62553;AAO62554;AAO62555;AAO64641;AAP85635;ABM84182;ABM87584;BAG57724;BAG70113;BAG70245;CAA49349;DAA01262;DAA01263;DAA01264;DAA01265;DAA01266;DAA01267;DAA01268;DAA01289;DAA01290;DAA01291;DAA01292;DAA01293;DAA01294;DAA01295;DAA01296;DAA01297;DAA01298;EAW81832;EAW81833;EAW81834;EAW81835;NP_001123579;NP_005543;NP_891553;Q07866 Hs.20107;Hs.657678 1645624;1658364;1688000;1797048;1849516;1854877;2117684;2139144;2143875;2191133 Cda1ee10;G35384;G35497;G35890;MARC_15241-15242:1012926496:1;RH45519;RH93079;SHGC-31709;WI-11561;XRCC3_1114 KLC;KLC 1;KNS2;KNS2A;MGC15245;RP11-73M18.7;RP11-73M18.8 OTTHUMP00000240450;OTTHUMP00000240451;OTTHUMP00000240452;OTTHUMP00000240453;OTTHUMP00000240454;OTTHUMP00000240457;OTTHUMP00000246739;OTTHUMP00000246740;OTTHUMP00000246741;OTTHUMP00000246742;OTTHUMP00000246743;OTTHUMP00000246744;OTTHUMP00000246745;OTTHUMP00000246746;OTTHUMP00000246747;kinesin 2 60/70kDa;medulloblastoma antigen MU-MB-2.50 APPROVED protein-coding ENSG00000126214 HGNC:6387 02489 600025 REVIEWED 1315239 KLC4 kinesin light chain 4 ENCODES a protein that exhibits microtubule motor activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); kinesin complex (inferred); microtubule (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 6 6 6 p21.1 44579615 44595077 + 43027372 43042833 + 43059594 43075099 + 6480464;8554872 12477932;14574404;14702039;15324660;15489334;16344560;16713569;16964243;17353931;17643375;17979178;19953087;20818331;21832049;21890473;21988832;22863883;22939629;24255178;24457600;8889548 89953 B4DME9;C9J8T5;C9JQU1;C9JXT5;C9JZE5;C9K0D5;F8WCA4;H7C4M1;Q9NSK0 ABBA01050696;AK055293;AK056393;AK094102;AK127018;AK127894;AK297433;AL162078;AL355385;AMYH02013638;AMYH02013639;AMYH02013640;BC012357;BC080637;BC103727;BQ688778;BX640717;CA450484;CH471081;DA104494;DA782235;DA835055;NM_001289034;NM_001289035;NM_138343;NM_201521;NM_201522;NM_201523 AAH12357;AAH80637;AAI03728;ABM83157;ABM86358;ACE86600;ACE87281;BAC86788;BAC87179;BAG51496;BAG51695;BAG52815;BAG59861;CAB82411;CAE45836;EAX04146;EAX04147;EAX04148;EAX04149;NP_001275963;NP_001275964;NP_612352;NP_958929;NP_958930;NP_958931;Q9NSK0 Hs.655123 1699636;2172404 RH103422;STS-R52053 KLC 4;KNSL8;MGC111777;bA387M24.3 OTTHUMP00000016420;OTTHUMP00000216970;OTTHUMP00000216971;OTTHUMP00000216972;OTTHUMP00000216973;OTTHUMP00000216974;OTTHUMP00000217001;kinesin-like 8;kinesin-like protein 8 protein-coding ENSG00000137171 HGNC:21624 13932 VALIDATED 1322814 KIRREL3 kin of IRRE like 3 (Drosophila) The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 11 11 11 q24 123459514 124037646 - 126293388 126870766 - 126423493 127000870 - 6480464;7240710;8554872;8699517 11347906;12424224;12477932;12975309;14702039;15489334;18464913;18951430;19012874;20195266;20237496;20379614;20585627;22747683;23667675;8889548 84623 B4DT91;E9PRX9;Q8IZU9 AB058770;ABBA01022998;ABBA01031219;ABBA01031220;ABBA01031221;AF480410;AK092047;AK300108;AMYH02025750;AMYH02025751;AMYH02025752;AMYH02025753;AMYH02025754;AMYH02025755;AP000741;AP000806;AP001783;AP002832;AP002833;AY358743;AY358760;BC042432;BC065255;BC071838;BC101775;BC101801;BM671831;CH471065;KC877493;KC877498;KF455561;KF455565;KF510363;NG_012971;NM_001161707;NM_001301097;NM_032531;W75978;XM_005271702 AAI01776;AAI01802;AAN73042;AAQ89103;AAQ89120;BAB47496;BAG61903;EAW67698;EAW67699;EAW67700;NP_001155179;NP_001288026;NP_115920;Q8IZU9;XP_005271759 Hs.376015 1649941;1664247;1668331;1684634;1684790;1710386;1714931;1721021;1721417;1731231;1731247;1732389;1736965;1737629;1737677;1737703;1738215;1752225;1756501;1757291;1760847;1762397;1769842;1787506;1851458;2113988;2127435;2135810;2140408;2163244;2163355;2180438;2181252;5015861;5015961;5092656;7185938 A005M34;AB062966;D10S16;D11S1119;D11S1863;D11S2562;D11S2594;D11S2675;D11S3229;D11S3281;D11S3302;D11S3857;D11S4013;D11S430;D11S477;D11S570;D15S1477;D4S3192;G31042;G32242;G59492;G59560;RH120460;RH16279;RH47697;RH91997;SHGC-106162;SHGC-143515;SHGC-144515;SHGC-144698;SHGC-146231;SHGC-155432;SHGC-31257;SHGC-34972;SHGC-82464;WI-12535 KIAA1867;MGC126824;MGC126850;MRD4;NEPH2;PRO4502 KIRRE;OTTHUMP00000231130;OTTHUMP00000231131;OTTHUMP00000231132;kin of IRRE-like protein 3;kin of irregular chiasm-like protein 3;nephrin-like 2;nephrin-like protein 2 APPROVED protein-coding ENSG00000149571 HGNC:23204 09679 607761;612581 REVIEWED 1348365 KLF10 Kruppel-like factor 10 This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 8 8 8 q22.2 99848329 99855302 - 103661005 103668130 - 102648777 102655902 - 6480464 10573529;10816551;10861837;10976766;11438660;12065093;12072443;12173049;12477932;12788480;12804117;15087465;15218362;15231748;15489334;15570219;16344560;16964243;17207965;17377371;17659279;17689119;17931948;18278048;18359287;18483178;18798273;18930345;19240061;19453261;20087894;20201926;20385766;20628624;20691807;20863814;20934684;20953893;21262377;21471442;21524276;21559363;21900206;21906983;21963094;22025675;22094256;22234868;22349513;22563190;22688058;23057549;23134681;23232713;23569208;23770605;23994618;8532536;8584037;9153278;9443078;9492071;9622090;9721211;9748269 7071 Q13118 ABBA01037620;ABBA01037621;AF050110;AK312894;AMYH02018536;AP002851;BC011538;BC095399;BI560615;BQ575313;BT006634;CH471060;DA720479;DA756360;HF546210;HF546211;NG_033271;NM_001032282;NM_005655;NR_103759;NR_103760;S81439;U21847;X75691 AAB36088;AAC34293;AAC34294;AAC50340;AAH11538;AAH95399;AAP35280;ACE86839;ACE87526;ADQ32775;BAG35741;CCO02796;CCO02797;EAW91850;NP_001027453;NP_005646;Q13118 Hs.435001 1856975;2106727;2142980 A006S39;SGC30492;TIEG__5259 EGR-alpha;EGRA;TIEG;TIEG-1;TIEG1 Krueppel-like factor 10;OTTHUMP00000227341;OTTHUMP00000227342;TGFB inducible early growth response;TGFB-inducible early growth response protein 1;early growth response-alpha;transforming growth factor-beta-inducible early growth response protein 1;zinc finger transcription factor TIEG protein-coding ENSG00000155090 HGNC:11810 03527 601878 REVIEWED 1604744 KLC3 kinesin light chain 3 This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008] 19 19 19 q13 42649957 42660732 + 45843998 45854864 + 45340740 45351552 + 6480464 10491391;11319135;11969417;12427867;12477932;12594206;14702039;15324660;15464570;15489334;17353931;17979178;18784752;19913121;20628086;21145461;23108145;8786141;9624122 147700 K7EL76;K7ELP9;K7ENJ3;Q6P597 ABBA01040922;AK092481;AMYH02036198;BC025318;BC062998;BC073841;BC126418;BC133037;BF569806;CH471126;L47234;NM_177417;XM_005258536 AAH62998;AAH73841;AAI26419;AAI33038;AAL48324;ADR83029;BAC03901;EAW57338;EAW57339;EAW57340;NP_803136;Q6P597;XP_005258593 Hs.298079 1675547;1699316;1737315;5022322;5037552 D11S2560;D19S728;D8S2279;RH103245;RH80858 KLC2;KLC2L;KLCt;KNS2B KLC2-like;OTTHUMP00000184890;OTTHUMP00000233126;kinesin light chain 2;kinesin light chain 2-like APPROVED protein-coding ENSG00000104892 HGNC:20717 03212 601334 REVIEWED 1605424 KLF11 Kruppel-like factor 11 The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 2 2 2 p25 10100586 10111182 + 10170776 10194963 + 10042993 10054836 + 2311540;2311539;6480464;7240710;8554872;8699517 15774581;18505768 10207080;11087666;11438660;11827452;12006497;12477932;14702039;15024015;15300592;15489334;15531587;16713569;17114344;17130512;17252542;17308981;17479246;18199129;18593768;19122346;19124506;19322201;19843526;20002157;20124487;20154088;20709022;21592955;21906983;21988832;22318730;22375010;22628545;22801105;22930747;23042817;23535732;23555910;23589285;23915421;24060634;24069400;24885560;9748269 8462 B5MCC4;B7ZAX4;C9JM94;E7EX78;O14901;Q53QU8 ABBA01015601;AC104794;AF028008;AF272830;AI183650;AI755210;AJ275989;AK002186;AK289816;AK302880;AK315345;AK316439;AMYH02003264;AMYH02003265;BC063286;BC069383;BC074922;BG701929;BM548792;BQ881155;CB990375;CH471053;CQ855663;CQ868162;NG_017199;NM_001177716;NM_001177718;NM_003597;XM_005246179 AAC61880;AAF75793;AAH63286;AAH69383;AAH74922;AAX93098;BAF82505;BAG37743;BAG64059;BAH14810;CAC06699;CAH23425;CAH33945;EAX00972;NP_001171187;NP_001171189;NP_003588;O14901;XP_005246236 Hs.12229 1660295;1670603;1771162;1772196;1856851;1856853;2108569 A005P43;G20404;RH11597;RH78629;SHGC-33613;SHGC-36737;TIEG2_8811 FKLF;FKLF1;MODY7;TIEG-2;TIEG2;Tieg3 Krueppel-like factor 11;OTTHUMP00000147532;TGFB-inducible early growth response protein 2;transforming growth factor-beta-inducible early growth response protein 2 APPROVED protein-coding ENSG00000172059 HGNC:11811 04488 603301;610508 REVIEWED 731382 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q12 53026240 53109027 + 55524095 55606881 + 54657928 54740715 + 1600050;1600047;1580863;1600045;1600046;2292419;2292425;2292422;2302173;2292423;2292424;2302172;2302175;2302174;2302176;2292414;2292426;2292421;2292170;2292181;2292430;5133424;6480464;6907045;7240710;8554872;8699517 10362788;12932303;14669790;15033665;15044924;15073597;15502806;15780567;15967102;16721362;1717985;17367465;17768701;17848740;17867595;18006222;18028988;18445266;1912576;9029028;9697690 10022833;10353443;10358045;10377264;10397721;10477727;10582339;10679268;10872802;11018522;11071635;11074500;11124255;11380399;11388751;11505412;11517291;11642722;11786393;11805142;11809791;11825908;11861291;11919394;12008077;12036870;12041664;12063025;12072198;12091362;12111653;12134042;12172985;12177062;12204004;12374739;12379771;12393703;12429808;12444928;12457234;12477932;12485499;12511554;12522257;12542597;12584564;12592353;12598308;12646235;12666065;12711118;12754375;12759497;1279499;12796027;1279971;12824871;12824925;12878163;12918066;1370874;1371879;1373482;1375232;1376329;1377810;1381360;14625290;14634801;14647465;14654075;14657715;14677065;14695343;14707129;14724587;14745431;14871970;14981116;14994370;15007095;15018431;15062876;15073598;15112348;15145934;15146197;15154005;15161681;15167915;15194144;15217946;15224284;15234225;15308671;15315962;15326474;15337769;15339674;15363457;15370139;15471556;15507672;15507676;15512818;15583854;15617841;15618474;15618926;15621809;15623596;15671569;15685537;15688149;15725473;15791568;15791570;15795882;15869870;15897742;15991300;16015387;16029447;16076867;16082245;16129412;16135486;16143141;16175573;16188233;16220461;16235251;16242000;16271084;16320053;16335952;16352739;16357008;16365291;16373964;16426921;16445822;16460801;16479070;16533529;16551858;16597595;16623778;16685437;16697720;16741248;16760463;16773696;16780420;16784237;16785193;16786129;16830365;16840725;16842246;16905672;16928224;17018686;17024483;17060458;17072721;17119051;17124503;1712644;1715789;17193822;1720553;1721869;17289809;17298867;17337216;17372901;17438095;17448763;17452978;17487504;17487541;17495964;17519280;17525721;17526803;17532173;17545544;17546049;17551405;17554063;17573850;17595334;17623951;17632543;17645464;17658483;17662946;17673922;17681176;17691909;17706113;17710669;17720713;17726262;17767956;17827398;17848411;17850794;17855052;17875504;17894554;17904548;17909012;17928050;17943970;17949810;17960171;17965221;17989000;17993265;18029348;18042065;18066592;18084259;18165278;18183595;18187489;18192885;18212542;18214972;18239612;18245707;18246046;18259950;18265633;18265649;18270328;18294292;18312355;18314611;18314612;18337018;18350628;18360281;18372228;18385756;18390729;18404201;18413817;18416137;18424727;18436868;18443272;18486988;18488000;18492696;18500266;18521081;18521824;18542042;18568298;18588518;18592792;18593464;18618605;18622894;18632627;18633766;18636362;18648854;18697750;18715619;18724244;18724245;18729075;18754326;18755984;18766958;18766971;18795925;18831895;18840707;18931652;18955451;18955458;18977345;18980976;18983466;19001805;19010635;19018266;19028276;19047099;19049823;19088079;19126397;19152194;19155737;19158834;19158841;19167335;19176031;19176456;19181784;19221036;19248967;19265199;19276970;19280218;19283847;19291337;19298525;19302534;19307738;19309322;19320733;19326424;19333543;19343301;19351817;19375649;19390946;19411681;19416921;19421145;19430803;19435714;19458628;19461405;19480722;19496203;19501868;19536093;19540337;19574886;19585492;19592542;19603346;19614767;19617878;19620409;19624312;19636022;19644024;19648886;19652583;19652585;19660459;19662984;19675092;19675587;19694830;19696981;19698218;19718013;19723893;19730683;19734423;19737953;19737976;19755855;19770581;19779861;19787330;19789626;19802003;19811659;19847891;19850739;19861442;19862010;19862822;19865100;19893034;19900103;19901887;19912360;19915299;19915372;19943934;19956635;19961019;20001342;20023271;20028869;20030644;20039765;20056794;20064158;20088873;20099418;20100931;20109338;20112369;20119835;20123583;20133985;20137753;20139978;20140688;20146711;20147452;20177846;20197394;20231303;20305341;20378615;20384797;20413811;20416162;20425130;20425418;20431920;20442311;20470368;20471335;20477813;20484085;20553795;20566360;20566478;20591500;20594584;20595514;20596251;20601678;20606738;20633291;20636395;20651373;20651400;20651610;20652953;20658364;20658618;20685234;20686603;20688482;20716168;20806443;20823768;20824047;20833650;20834236;20838624;20838788;20847314;20853134;20857409;20861712;20861915;20927104;20949558;20950418;21030588;21057563;21058037;21072993;21076613;21084381;21113618;21115932;21119596;21131919;21134978;21135090;21157293;21171987;21190722;21195420;21262832;21270602;21273305;21274753;21320746;21325067;21372218;21382095;21387320;21399664;21403518;21417999;21427092;21434524;21454057;21457934;21461555;21478825;21498700;21504297;21523721;21527588;21569090;21573494;21577323;21585622;21595858;21598306;21605429;21606963;21609392;21633298;21640708;21658742;21680281;21680547;21689725;21690468;21692598;21697888;21715005;21725412;21757432;21765473;21787767;21802916;21804459;21835435;21836495;21887372;21951831;21953054;21971089;21971708;21993766;22038222;22042971;22051531;22076173;22077630;22083669;22094233;22101339;22119814;22135725;22140461;22145956;22154054;22160160;22170730;22171430;22173128;22173243;22193299;22197035;22199321;22213031;22233760;22237707;22261446;22264755;22301675;22314183;22330882;22338050;22349512;22357254;22395498;22423624;22448662;22449154;22464346;22469616;22513068;22534474;22558483;22559980;22568210;22608575;22626674;22670177;22672386;22729910;22736149;22751451;22797058;22809251;22815156;22825855;22833529;22839358;22846208;22866542;22892471;22917541;22932406;22937135;22939396;22963430;22993368;22995373;23014346;23016555;23020152;23037870;23053179;23060556;23074272;23075886;23084635;23106360;23127495;23138176;23152053;23160462;23171083;23181448;23190889;23221472;23222517;23242216;23246970;23277171;23285214;23291969;23292839;23363047;23374274;23398044;23411580;23416972;23455185;23456621;23467883;23528260;23528861;23570416;23582185;23582602;23584476;23587226;23587333;23588081;23593401;23598963;23599150;23621836;23621866;23643069;23662587;23664541;23683787;23686805;23696920;23696935;23740774;23742652;23743299;23755839;23771924;23775962;23782496;23783394;23786947;23807750;23817129;23833305;23860532;23887971;23896410;23898208;23926000;23932767;23940219;23965952;23972510;23990986;23993026;24000325;24008320;24009080;24061512;24083421;24091327;24094550;24098785;24128084;24180487;24211243;24223922;24226631;24284075;24295410;24300467;24317392;24322018;24323358;24369323;24375253;24379252;24379393;24379641;24412084;24419427;24449920;24457249;24458279;24462355;2448137;24677542;24695820;24722823;2474787;24751333;24802725;24847623;3360448;7479840;7505199;7506076;7506248;7507133;7509796;7514064;7514077;7520444;7523381;7523489;7526158;7527392;7536744;7537096;7539802;7680037;7684496;7687267;7691885;7693453;8527164;8589724;8611693;8647802;8680409;8751459;8757502;8950973;9027509;9038210;9092574;9108086;9233773;9341198;9355737;9438854;9450866;9528781;9657776;9699740;9788619;9799234;9827716;9847074;9872323;9990072 3815 P10721;Q8TCG9 ABBA01003404;AC006552;AC092545;AJ438313;AK304031;AMYH02009237;BC071593;CH471057;CN414753;CS117948;CS479297;CS542496;DC376760;EU826594;GM868983;GU983671;HM015525;HM015526;HM030712;HM030713;HM437240;KF510866;L04143;NG_007456;NM_000222;NM_001093772;S67773;S68472;U63834;X06182;X65959;X69301;XM_005265740;XM_005265741;XM_005265742;XM_006714038 AAB29301;AAB29529;AAC50968;AAC50969;AAH71593;ACF47630;ADF36702;ADF50068;ADF50069;ADF50070;ADF50071;ADN43071;BAG64945;CAA29548;CAA46771;CAA46772;CAA49159;CAD27356;CAJ15130;CAM35390;CAM91185;CAT16960;EAX05460;EAX05461;NP_000213;NP_001087241;P10721;XP_005265797;XP_005265798;XP_005265799;XP_006714101 Hs.479754 1645011;1657827;1668598;1669504;1741559;1743049;1744539;1745609;1745611;1745613;1856201;2174637 G15879;GDB:181531;GDB:250632;GDB:512789;GDB:626073;GDB:626077;GDB:626080;SHGC-12679;SHGC-50170;SHGC-67781;SHGC4-128;STS-N21003 C-Kit;CD117;PBT;SCFR OTTHUMP00000158901;OTTHUMP00000218587;mast/stem cell growth factor receptor;mast/stem cell growth factor receptor Kit;p145 c-kit;piebald trait protein;proto-oncogene c-Kit;proto-oncogene tyrosine-protein kinase Kit;soluble KIT variant 1;tyrosine-protein kinase Kit;v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein APPROVED protein-coding ENSG00000157404 HGNC:6342 01287 154800;164920;172800;273300;601626;606764 REVIEWED 1319723 KLF1 Kruppel-like factor 1 (erythroid) This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009] 19 19 19 p13.2 12884944 12887725 - 12995236 12998017 - 12884422 12887203 - 1580863;6480464;7240710;8699517;8554872 11018012;11259590;11287616;11844803;12072445;12477932;12556498;14976188;15057824;15542849;15937668;16184297;16858401;18195733;18329016;18487511;18523154;19097174;19220418;19251649;19850899;20379614;20642331;20676097;20676099;20686118;21055716;21157349;21190291;21273267;21610079;21670263;21778342;21821711;22093801;22102705;22393050;22965552;23125034;23161389;23209159;23223429;23474875;23806141;24139988;24443441;24711040;24829204;7753194;8924208;9119377;9722526;9778250 10661 Q13351 ABBA01029763;AC020934;AD000092;AMYH02035560;BC033580;BC040000;CH471106;FJ200444;NG_013087;NM_006563;U37106;U65404 AAB51173;AAC50562;AAC51108;AAH33580;ACM18112;EAW84323;NP_006554;Q13351 Hs.37860 2157258 STS-H60702 CDAN4;EKLF;HBFQTL6;INLU Krueppel-like factor 1;erythroid Kruppel-like factor;erythroid krueppel-like transcription factor;erythroid-specific transcription factor EKLF;monoclonal antibody A3D8 APPROVED protein-coding ENSG00000105610 HGNC:6345 07197 111150;600599;613566;613673 REVIEWED 1603973 KLC2 kinesin light chain 2 Kinesin is a molecular motor that generates ATP-dependent movement of vesicles and organelles along microtubules. Kinesin consists of 2 light chains, such as KLC2, and 2 heavy chains (see KIF5B; MIM 602809) in a 1:1 stoichiometric ratio (Rahman et al., 1998 [PubMed 9624122]).[supplied by OMIM, Mar 2008] 11 11 11 q13.2 1 812 + 66024765 66035332 + 66257294 66267861 + 6480464 10491391;11076863;11106729;11230166;11256614;12477932;14702039;14985359;15146197;15297625;15302935;15324660;15342556;15489334;15489336;15778465;16169070;16344560;16381901;16713569;16964243;17081983;17332754;17353931;17979178;19765186;19773350;19946888;21832049;21890473;21900206;21926972;22470497;22797925;22863883;22939629;23443559;24255178;24457600;24816145;9624122 64837 A8MX29;A8MZ87;C9JHT2;E9PI24;E9PM83;E9PP09;E9PQ02;Q9H0B6 ABBA01024088;AK022449;AK022907;AK094593;AK126489;AK315725;AL136864;AMYH02024974;AP000759;AP001107;BC034373;BE882786;BP214296;CH471076;CN310361;DA198727;DA291004;DA773222;DB136312;NM_001134774;NM_001134775;NM_001134776;NM_022822;XM_005274182;XM_005274183;XM_005274184;XM_006718665 AAH34373;ABM82064;ABM85243;BAB14039;BAB14302;BAG38081;BAG52895;CAB66798;CAL38468;EAW74507;NP_001128246;NP_001128247;NP_001128248;NP_073733;Q9H0B6;XP_005274239;XP_005274240;XP_005274241;XP_006718728 Hs.280792 1683579 RH93160 FLJ12387;KLC 2 OTTHUMP00000165216;OTTHUMP00000165218;OTTHUMP00000165219;OTTHUMP00000165220 APPROVED protein-coding ENSG00000174996 HGNC:20716 13917 611729 VALIDATED 1343776 KLF14 Kruppel-like factor 14 This intronless gene encodes a member of the Kruppel-like family of transcription factors. The encoded protein functions as a transcriptional co-repressor, and is induced by transforming growth factor-beta (TGF-beta) to repress TGF-beta receptor II gene expression. This gene exhibits imprinted expression from the maternal allele in embryonic and extra-embryonic tissues. [provided by RefSeq, Jul 2013] 7 7 7 q32.3 125165236 125166729 - 130417382 130418860 - 130732554 130734033 - 1580863;6480464 12690205;15820306;17480121;19088080;19578363;19936222;20581827;20686565;20889853;21171965;21572415;21906983;23317878;23630301;24097068;24195066;24403052;24759103 136259 A4D1N0;Q8TD94 AA455939;ABBA01057579;AC009274;AC234644;AF490374;AMYH02016762;CH236950;CH471070;DQ534756;DQ534757;NG_016152;NM_138693 AAI60035;AAM08349;ABF82392;ABF82393;EAL24083;EAW83773;NP_619638;Q8TD94 Hs.125240 1847465;2219856;5492837 D7S2937;KLF14__6524;UniSTS:482988 BTEB5 BTE-binding protein 5;Krueppel-like factor 14;OTTHUMP00000207100;basic transcription element-binding protein 5;transcription factor BTEB5 APPROVED protein-coding HGNC:23025 13919 609393 REVIEWED 1344641 KLF13 Kruppel-like factor 13 KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008] 15 15 15 q12 9344613 9395650 + 31619083 31670102 + 31326880 31377899 + 1580863;6480464 10023774;10415854;10828046;11087666;11438660;11477107;11748222;12036432;12050170;12093895;12477932;12758070;15489334;15716005;15937668;16023392;16303770;17053787;17074812;17513757;18056793;19531213;20211142;20410205;20518834;20539070;21906983;21963094;22505724;22797700;24250222;24722188;25015289 51621 H0YK05;H0YKM8;Q9Y2Y9;X5DNR2 ABBA01038331;ABBA01038332;AC012236;AC104759;AC243650;AF132599;AF150628;AL390127;BC010438;BC012741;BC012782;BC013946;BC035503;BC064552;BF797908;BM477172;CH471216;KJ534876;KJ535015;NM_015995 AAD26864;AAD34020;AAH10438;AAH12741;AAH13946;AHW56516;AHW56654;EAW61265;NP_057079;Q9Y2Y9 Hs.525752 1675549;1718681;1788934 RH123031;RH80027;UniSTS:224624 BTEB3;FKLF2;NSLP1;RFLAT-1;RFLAT1 BTE-binding protein 3;Krueppel-like factor 13;OTTHUMP00000159587;RANTES factor of late activated T lymphocytes-1;RANTES factor of late activated T-lymphocytes 1;Sp1 like zinc finger transcription factor;basic transcription element binding protein 3;basic transcription element-binding protein 3;novel Sp1-like zinc finger transcription factor 1;transcription factor BTEB3;transcription factor NSLP1 APPROVED protein-coding ENSG00000169926 HGNC:13672 05620 605328 VALIDATED 1314308 KLF16 Kruppel-like factor 16 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN dopamine receptor signaling pathway (inferred); regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; amiodarone; arsane 19 19 19 p13.3 1786480 1797646 - 1852398 1863564 - 1852399 1863565 - 1580863;6480464 11390978;11438660;12036432;15937668;17480121;17688680;22203677;22939629;24654937 83855 Q9BXK1 ABBA01002689;ABBA01002690;ABBA01002691;AC012615;AF327440;AK025941;AMYH02035168;AMYH02035169;BE243730;BQ447922;BU594659;CH471139;CR985546;CV809534;NM_031918 AAI48408;AAI48794;AAK15698;EAW69448;EAW69449;NP_114124;Q9BXK1 Hs.136280 1697284 RH102139 BTEB4;DRRF;NSLP2 BTE-binding protein 4;Krueppel-like factor 16;basic transcription element binding protein 4;basic transcription element-binding protein 4;dopamine receptor regulating factor;novel Sp1-like zinc finger transcription factor 2;transcription factor BTEB4;transcription factor NSLP2 protein-coding ENSG00000129911 HGNC:16857 12090 606139 VALIDATED 737261 KLF15 Kruppel-like factor 15 ENCODES a protein that exhibits transcription regulatory region DNA binding (ortholog); INVOLVED IN negative regulation of peptidyl-lysine acetylation; positive regulation of transcription from RNA polymerase II promoter; glomerular visceral epithelial cell differentiation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amiodarone; cyclosporin A 3 3 3 q21.3 124486052 124501056 - 126061478 126076236 - 126342635 126357393 - 1580863;6480464;8554872 10982849;11473619;12477932;15489334;15937668;15963234;17438289;17688680;18029348;18586263;19366843;19767294;20141633;20375365;20709022;20956975;21257922;21503941;21937448;21988832;22405069;22493257;22493483;23378610;23455924;23999430;24027338;24407292;24722188 28999 Q9UIH9 AB029254;ABBA01016394;AC063919;AMYH02007583;AMYH02007584;BC036733;BX649049;CH471052;NM_014079;XM_005247400 AAH36733;ABM81837;ABM84988;BAA88561;EAW79367;NP_054798;Q9UIH9;XP_005247457 Hs.272215 1796230 KLF15_1463 DKFZp779M1320;KKLF Krueppel-like factor 15;OTTHUMP00000222546;kidney-enriched Kruppel-like factor;kidney-enriched krueppel-like factor protein-coding ENSG00000163884 HGNC:14536 07568 606465 VALIDATED 7371422 KLF2P4 Kruppel-like factor 2 pseudogene 4 2 2 132056553 132058017 - 131298980 131300444 - 100533668 ABBA01028239;AC131180;AMYH02004808;NG_028774 pseudo HGNC:49283 INFERRED 5131804 KLF17P1 Kruppel-like factor 17 pseudogene 1 12 12 12 q14.1 62295866 62297925 - 62628171 62629296 - 62234390 62235515 - 100133321 ABBA01026638;AC078789;AMYH02026632;NG_028765 pseudo HGNC:41521 INFERRED 1343244 KLF3 Kruppel-like factor 3 (basic) ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN cellular response to peptide (inferred); multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; formaldehyde 4 4 4 p14 39107001 39144340 + 38665790 38703129 + 38664169 38701508 + 1580863;6480464 10582345;12477932;12556451;12812068;15489334;15684403;15937668;16344560;17081983;17207965;18391014;19913121;20379614;20628086;21360637;21470678;21693764;22003205;23455924;23652523;23850713;23918807;24722188;7750094;8889548;9724649 51274 P57682 AB024523;ABBA01074329;AC021860;AF285837;AK313459;AMYH02009038;AMYH02009039;BC030662;BC051687;BU689914;CH471069;DB246277;NM_016531;S77393;XM_006714015 AAH30662;AAH51687;AAK27329;ADQ31936;BAA92271;BAG36246;EAW92895;EAW92896;NP_057615;P57682;XP_006714078 Hs.298658 1735422;2128402;2139356;2143901;2149718;2151285;2169617;2217526 D4S2599E;KLF3_1583;RH36206;SGC31793;SHGC-59602;SHGC-67230;SHGC-67372;SHGC-67940 BKLF;MGC48279;TEF-2 CACCC-box-binding protein BKLF;Krueppel-like factor 3;OTTHUMP00000123486;basic Kruppel-like factor;basic krueppel-like factor;basic kruppel like factor;transcript ch138 protein-coding ENSG00000109787 HGNC:16516 13920 609392 VALIDATED 1319416 KLF12 Kruppel-like factor 12 Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q22 55158964 55607803 - 74260149 74708400 - 73686012 74134263 - 1580863;6480464;8554872 10704285;11042152;11373277;11406275;11935316;12477932;14702039;15057823;15489334;15937668;16189514;16344560;16615998;18668548;19240061;19588488;19907058;20049410;20101243;20379614;21076409;21658422;21822266;21832049;22150086;22359512;23134681;23458459;23897914;24722188;9858544 11278 Q8WWI3;Q9Y4X4 ABBA01050348;ABBA01050349;ABBA01050350;ABBA01050351;ABBA01050352;ABBA01050353;ABBA01050354;ABBA01050355;AF113122;AF161471;AF312872;AF330041;AI949908;AJ243274;AK094419;AK096503;AK126412;AK291397;AL138713;AL139036;AL158054;AL159972;AL160032;AL356319;AMYH02028267;AMYH02028268;AMYH02028269;BC019680;BF515580;CH471093;CQ834616;DB125574;HF546212;NM_007249;XM_005266251;XM_005266252;XM_006719762 AAF14863;AAF29086;AAH19680;AAK12082;AAL37478;ABM82699;ABM85883;BAF84086;CAB46982;CAH05523;CCO02798;EAW80528;EAW80529;NP_009180;Q9Y4X4;XP_005266308;XP_005266309;XP_006719825 Hs.373857;Hs.729350 1341041;1341348;1647155;1655669;1661092;1681590;1690262;1699430;1722209;1738431;1754465;1764173;1766633;1777620;1780314;1780316;1780320;1780332;1780382;1780384;1780398;1796228;2111386;2134045;2142643;2150858;2158672;2175882;2182411;2183206;2189787;2189853;2189863;2189867;2189871;2189873;2189879;5017763;7186249;7186534 123m6REV;308d14REV;343d16FWD;374l18REV;413n5FWD;413n5REV;511g14FWD;D13S156;D13S166;D13S681E;D13S821E;D13S856E;G17687;G60008;G67098;G67103;G67104;G67105;G67106;G67107;G67148;KLF12;KLF12_1562;RH103306;RH15688;RH45042;RH45263;RH45383;RH93662;RH98942;SHGC-132738;SHGC-147813;SHGC-149929;SHGC-4027;SHGC-9129;STS-AA009838;WI-13803;WI-17043 AP-2rep;AP2REP;HSPC122 AP-2 repressor;AP-2rep transcription factor;KLF12 zinc finger transcriptional repressor;Krueppel-like factor 12;OTTHUMP00000018503;transcriptional repressor AP-2rep APPROVED protein-coding ENSG00000118922 HGNC:6346 06336 607531 VALIDATED 2303476 KLF3-AS1 KLF3 antisense RNA 1 4 4 4 p14 39055560 39107460 - 38614322 38666581 - 38612701 38664628 - 14702039 79667 Q8WZ27;Q9H8V8 ABBA01074326;ABBA01074327;ABBA01074328;ABBA01074329;AC021860;AF289565;AK023259;AMYH02009038;CH471069;NR_026804 AAL55749;BAB14493;EAW92893;EAW92894;Q9H8V8 Hs.29725 1651457;1665472;1779628;5037249 D4S744;G31615;REN36941;SHGC-153605 RP11-617D20.1 APPROVED ncrna ENSG00000231160 HGNC:25796 07818 VALIDATED 8548455 KLF4P1 Kruppel-like factor 4 (gut) pseudogene 1 9 9 9 4729388 4730631 - 4803791 4805034 - 4803791 4805034 - 100420113 ABBA01065419;AL353151;AMYH02019079;NG_023778 pseudo HGNC:49738 INFERRED 1344784 KLF17 Kruppel-like factor 17 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (ortholog); transcription regulatory region DNA binding (ortholog); INVOLVED IN regulation of transcription from RNA polymerase II promoter (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH fonofos; parathion; terbufos 1 1 1 p34.1 42868030 42884304 + 44513987 44600812 + 44048316 44135140 + 6480464;8554872 12351194;12477932;14702039;15489334;16344560;16460907;16710414;19801974;19951400;22240024;23325444;24220291;24504364;24947617 128209 Q5JT82 ABBA01050931;AK097479;AK308458;AL139220;AL356653;AL359839;AMYH02000914;BC035408;BC049844;CH471059;DB046781;HC044657;NM_173484;XM_005270464;XM_005270465 AAH49844;BAC05070;CBH30658;EAX07052;EAX07053;NP_775755;Q5JT82;XP_005270521;XP_005270522 Hs.567674 1745973;5019046 G43535;RH124565 FLJ40160;RP4-675G8.1;ZNF393;Zfp393 Krueppel-like factor 17;OTTHUMP00000011242;novel zinc-finger protein;zinc finger protein 393 protein-coding ENSG00000171872 HGNC:18830 08272 609602 VALIDATED 5131808 KLF3P1 Kruppel-like factor 3 (basic) pseudogene 1 5 5 5 q35.1 167713157 167715117 - 171680784 171682744 - 172253780 172255740 - 651815 ABBA01044050;AC024561;AMYH02012748;NG_006658 1854783 A008U21 pseudo HGNC:41518 INFERRED 1351701 KLF2 Kruppel-like factor 2 Kruppel-like factors (KLFs) are a family of broadly expressed zinc finger transcription factors. KLF2 regulates T-cell trafficking by promoting expression of the lipid-binding receptor S1P1 (S1PR1; MIM 601974) and the selectin CD62L (SELL; MIM 153240) (summary by Weinreich et al., 2009 [PubMed 19592277]).[supplied by OMIM, Feb 2011] 19 19 19 p13.11 16337566 16340260 + 16435651 16438345 + 16324840 16327534 + 1580863;6480464 10217429;10458913;11375995;11750135;12176889;12426306;12477932;15003522;15136591;15607822;15718498;15735666;15834135;15878865;15937668;15947087;15980434;16023392;16043642;16116194;16341264;16455954;16466697;16542423;16571724;16617118;16988269;17244683;17688680;17927807;18192240;18218994;18362151;18467642;18814951;18976975;19047056;19322201;19491109;19495417;19592277;19671192;19696221;19786564;19957349;19968965;20032497;20042720;20525885;20651277;20693579;20947822;21160050;21167486;21187410;21382345;21470678;21610079;21768538;22143796;22267480;22267843;22327366;22574900;22683691;22942434;22988032;23002242;23313511;23333304;23507969;23667185;23723375;24107715;7565748;8125298 10365 K7EJ60;Q8IUN4;Q9Y5W3 ABBA01051144;AC020917;AF123344;AF134053;AF205849;AK225820;AMYH02035681;BC035342;BC071983;BQ581981;CA950627;CH471106;HI179182;HI574216;NM_016270 AAD25076;AAD55891;AAF13295;AAH35342;AAH71983;CBX47597;CBX53899;EAW84541;NP_057354;Q9Y5W3 Hs.744182 1685676;2123102;2135311;5095008 KLF2;RH41932;RH98967;SHGC-57513 LKLF Krueppel-like factor 2;Kruppel-like factor 2 (lung);Kruppel-like factor LKLF;lung Kruppel-like zinc finger transcription factor;lung krueppel-like factor APPROVED protein-coding ENSG00000127528 HGNC:6347 03602 602016 VALIDATED 1342656 KLF4 Kruppel-like factor 4 (gut) ENCODES a protein that exhibits core promoter proximal region sequence-specific DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; RNA polymerase II transcription factor binding; INVOLVED IN cellular response to growth factor stimulus; cellular response to laminar fluid shear stress; negative regulation of cell migration involved in sprouting angiogenesis; FOUND IN nuclear chromatin; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17alpha-ethynylestradiol; 17beta-estradiol 9 9 9 q31 80749144 80754056 - 110247133 110252047 - 107484852 107489766 - 1580863;6480464 10392904;10431239;10556311;10666450;10749849;10802067;11521200;12034813;12087155;12297499;12427745;12439907;12477932;12581631;12776194;12853980;12901861;12919939;14627709;14670968;14702039;14724568;15031282;15051827;15102675;15489334;15561714;15674344;15740636;15805274;15806166;15937668;16372018;16507986;16632465;17016435;17017123;17135299;17339326;17508399;17614846;17671182;17688680;17762869;17827213;17908689;17932114;18029348;18056793;18157115;18264726;18376139;18390749;18655026;18768922;18977346;19074836;19197145;19327128;19361279;19409607;19458492;19486889;19495417;19503094;19505997;19522013;19541842;19544095;19549847;19696409;19717984;19737957;19751731;19763260;19779097;19816951;19858207;19968965;20030945;20043075;20071344;20072650;20075075;20215880;20305087;20356845;20385121;20442780;20467438;20479568;20519630;20551324;20629177;20699379;20711222;20718868;20727893;20849362;20972454;21075859;21125297;21132436;21159640;21166929;21177849;21219537;21224073;21242971;21252119;21263130;21312053;21412023;21502426;21518959;21531817;21539536;21586797;21652709;21670502;21673106;21674249;21689550;21746878;21832049;21833590;22170051;22170594;22209344;22267480;22282354;22284679;22364861;22384261;22389506;22407433;22430140;22491752;22528804;22539002;22592916;22653776;22677193;22766303;22835519;22842522;22854048;22937066;23007394;23023329;23045286;23089465;23097599;23118962;23134681;23160196;23202735;23249717;23275339;23348505;23376074;23384942;23395444;23404370;23418515;23440423;23515309;23585530;23599428;23696417;23722653;23737434;23758499;23861801;23867820;23884216;23921950;23926105;24018236;24030402;24060351;24065485;24105022;24156273;24281002;24318462;24388984;24626089;24755985;24763828;24812666;24978920;25042802;8702718;8889548;8940147;9218496;9422764;9428642;9443972;9651398 9314 B7ZBT1;B7ZBT2;O43474;Q5T3J6 ABBA01042788;AF022184;AF105036;AK095134;AK095894;AK313489;AL359552;AL360218;AMYH02021420;BC029923;BC030811;BU739190;CH471105;DN995850;DQ658241;HF546201;HF546202;HF546213;HM026463;JC184558;NM_004235;U70663;XM_005252305 AAB48399;AAC03462;AAD42165;AAH29923;AAH30811;ABG25917;ABM82719;ABM85901;ADL14248;BAG36271;BAG52991;CCO02787;CCO02788;CCO02799;CDM21965;EAW59019;EAW59020;EAW59021;NP_004226;O43474;XP_005252362 Hs.376206 1796232;5492141 KLF4_905;Klf4 EZF;GKLF Krueppel-like factor 4;OTTHUMP00000021862;endothelial Kruppel-like zinc finger protein;epithelial zinc finger protein EZF;gut-enriched krueppel-like factor protein-coding ENSG00000136826 HGNC:6348 602253 VALIDATED 5131806 KLF3P2 Kruppel-like factor 3 (basic) pseudogene 2 3 3 3 q 155118180 155119422 + 156694667 156695909 + 156976878 156978120 + 100124394 ABBA01058836;AC092993;AC117392;AMYH02007978;NG_006657 pseudo HGNC:41519 INFERRED 6481101 KLF7-IT1 KLF7 intronic transcript 1 (non-protein coding) q33.3 10737800 100874272 AC008062;BF751439 ncrna HGNC:41355 1349381 KLF6 Kruppel-like factor 6 This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009] 10 10 10 p15 3763066 3772350 - 3818188 3827473 - 3775996 3785281 - 6480464;7240710;8554872 10802067;11752579;12433697;12477932;12508640;12590140;12651597;12651626;12740910;12794452;15057748;15064720;15067324;15131018;15164054;15172998;15247715;15342556;15378003;15486921;15489334;15735005;15824733;15917248;15937668;16044160;16054710;16169070;16189514;16385451;16431954;16500425;16598737;16702959;16778100;16856969;16872311;16972326;16988269;17071613;17113081;17125911;17143513;17207965;17223258;17347589;17347668;17514651;17621627;17636026;17663506;17893646;18053161;18174288;18190240;18250346;18471523;18515091;18521079;18596922;18691883;18719336;18753303;18755691;18822210;19020536;19097929;19101139;19328586;19333010;19435908;19808645;19967571;20014424;20116377;20126619;20237496;20453000;20545576;20660366;20714872;20801538;20844588;21056892;21109018;21154818;21282102;21309496;21443094;21470678;21538018;21799854;21832049;21849067;21906983;21928351;21940380;22095588;22169644;22277651;22486562;22535637;22581522;22653055;22711891;22782870;22855058;22859706;23048070;23085750;23219426;23322324;23345610;23353867;23508266;23512538;23831683;23870195;23977008;24130502;24366496;24385430;24519062;24634218;8889548;9000136;9083102;9503030;9685731;9689109 1316 D3GC14;Q99612 AB017493;ABBA01035220;AF001461;AF284036;AI355637;AK293259;AK316596;AL450322;AL513303;AMYH02022013;BC000311;BC004301;BC015987;BM544849;BM695496;BP357332;BQ017028;BT006778;BX537374;CD742988;CH471072;CR975091;CR994352;FJ619623;HI573934;HI573936;NG_012277;NM_001160124;NM_001160125;NM_001300;NR_027653;U44975;U51869 AAB94792;AAB94793;AAC23699;AAC39929;AAH00311;AAM73548;AAP35424;ABM81678;ACU45419;ADQ31593;BAA33050;BAG38183;BAG56791;CAD97616;CBX47456;CBX47457;EAW86476;EAW86477;EAW86478;EAW86479;NP_001153596;NP_001153597;NP_001291;Q99612 Hs.4055;Hs.709396 1646880;1725733;2129129;2154045;2159098;2163101;2217180 COPEB_2513;D10S1368E;D10S2364;G62122;RH48829;STS-AA018922;WI-12084 BCD1;CBA1;CPBP;DKFZp686N0199;GBF;PAC1;ST12;ZF9 B-cell-derived protein 1;COPEB;GC-rich binding factor;GC-rich sites-binding factor GBF;Krueppel-like factor 6;Kruppel-like zinc finger protein Zf9;OTTHUMP00000018986;core promoter element binding protein;core promoter element-binding protein;proto-oncogene BCD1;protooncogene B-cell derived 1;suppression of tumorigenicity 12 (prostate);suppressor of tumorigenicity 12 protein;transcription factor Zf9 APPROVED protein-coding ENSG00000067082 HGNC:2235 03632 137215;176807;602053;613659 REVIEWED 1345927 KLF5 Kruppel-like factor 5 (intestinal) This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] 13 13 13 q22.1 54531627 54550162 + 73629114 73651676 + 73054976 73077542 + 1581748;1304323;1304288;1581746;1580863;1581749;6480464 10417400;11120052;14557694;14726538;15098654 10572182;11076828;11152667;12087155;12101409;12113473;12242654;12477932;12576331;12661032;12682370;12901861;14573617;14587307;14612398;15077182;15087132;15489334;15581624;15668237;15735697;15740636;15937668;16023392;16054042;16102021;16102754;16184550;16223724;16341264;16357509;16500892;16595680;16638850;16904982;17178721;17283079;17320083;17430902;17508399;17603560;17622557;17688680;18029348;18039846;18054006;18226501;18500350;18599506;18617520;18660489;18670098;18729074;18774944;18782761;19056724;19189969;19240162;19322201;19366898;19411256;19419955;19448973;19460858;19569049;19628677;19668233;19671674;19684017;20086047;20101243;20388706;20484041;20639455;20694673;21383775;21470678;21487105;21542805;21566082;21674249;21732124;21868761;21885866;21906983;21951574;21953463;21993314;22045023;22094285;22120375;22452784;22584587;22632162;22632819;22936544;22939629;22990386;23112162;23134681;23372710;23521344;23633919;23810009;23869764;23880760;23913682;23975368;24126055;24323942;24398687;24584857;8479902;8889548;9089417;9973612 688 A2TJX0;Q13887;Q5T6X2 AB030824;ABBA01050341;AF132818;AF184924;AF287272;AK131397;AK296900;AK302280;AK304284;AL354720;AMYH02028254;BC007695;BC014302;BC042131;BM982025;BT006641;CH471093;D14520;EF208215;HF546203;HF546204;NM_001286818;NM_001730;XM_005266509;XM_006719862 AAF18307;AAF88068;AAG23126;AAH07695;AAH42131;AAP35287;ABM84666;ABM92198;ABM97548;BAA03393;BAA96461;BAG59458;BAG63623;BAG65143;CCO02789;CCO02790;EAW80524;EAW80525;EAW80526;NP_001273747;NP_001721;Q13887;XP_005266566;XP_006719925 Hs.508234 1780340;1797796;2189777;2189829;2189875;5094985;5111606 116d19FWD;257f24FWD;42o17FWD;G67088;KLF5;KLF5_2413;RH91880 BTEB2;CKLF;IKLF BTE-binding protein 2;GC box binding protein 2;GC-box-binding protein 2;Krueppel-like factor 5;OTTHUMP00000018502;basic transcription element binding protein 2;basic transcription element-binding protein 2;colon krueppel-like factor;colon kruppel-like factor;intestinal-enriched krueppel-like factor;intestinal-enriched kruppel-like factor;transcription factor BTEB2 APPROVED protein-coding ENSG00000102554 HGNC:6349 04212 602903 REVIEWED 1348117 KLF8 Kruppel-like factor 8 This gene encodes a protein which is a member of the Sp/KLF family of transcription factors. Members of this family contain a C-terminal DNA-binding domain with three Kruppel-like zinc fingers. The encoded protein is thought to play an important role in the regulation of epithelial to mesenchymal transition, a process which occurs normally during development but also during metastasis. A pseudogene has been identified on chromosome 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] X X X p11.21 60097322 60152463 + 56258814 56314322 + 56232381 56287889 + 1580863;6480464 10756197;11836360;12477932;12556451;12820964;15489334;15772651;15937668;16023392;16832343;17224162;17671186;18353772;20107328;20182889;20467438;20728449;21151179;21518760;21832049;22276196;22505724;22761862;22766838;23023312;23105099;23134681;23222713;23504025;23703536;23720494;23812425;23885141;23918943 11279 O95600;Q05BZ3 AB209004;ABBA01069447;ABBA01069448;ABBA01069449;ABBA01069450;AK296156;AL050309;AMYH02039522;AMYH02039523;BC031355;BC063276;BC105130;BC112109;BX098438;BX322609;BX641066;CH471154;HF546207;HF546208;HF546209;NG_011949;NM_001159296;NM_007250;XM_005261977;XM_005261978;XM_005261979;XM_006724575;XM_006724576;XR_244466 AAH31355;AAI05131;AAI12110;ABZ92303;BAD92241;BAG58895;CAE46033;CCO02793;CCO02794;CCO02795;EAW93230;EAW93231;EAW93232;NP_001152768;NP_009181;O95600;XP_005262034;XP_005262035;XP_005262036;XP_006724638;XP_006724639 Hs.646614 1656509;1662160;1671987;1695256;1695612;2141251;5015741;5109549;7184470;7184632;7188003 D20S994;D21S1698;DXS741;NIB723;SHGC-62967;SHGC-68451;STS-H42415;WI-18614 BKLF3;DKFZp686O08126;MGC138314;ZNF741 Krueppel-like factor 8;OTTHUMP00000023405;basic krueppel-like factor 3;basic kruppel-like factor 3;zinc finger protein 741 APPROVED protein-coding ENSG00000102349 HGNC:6351 02238 300286 REVIEWED 1350312 KLF9 Kruppel-like factor 9 The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates transcription. [provided by RefSeq, Jul 2008] 9 9 9 q13 43589868 43619934 - 72999513 73029573 - 70384597 70414657 - 70784;6480464 1356762 11438660;12477932;12672823;15164053;15489334;16384861;17717078;18056793;18224337;18426912;18477211;18783612;19322201;19375645;20410205;20463357;21280156;21543766;21906983;21987111;22144178;22259059;22344221;22711835;23865345;24173774;24613345;24737412;7775404;8051167;8257632;8269949;8291025 687 Q13886 AB451404;ABBA01033823;AI458659;AI693223;AK313631;AL162390;AMYH02020951;BC069431;BC074879;BC074880;BE221978;CH471089;CQ834782;D31716;NM_001206;S72504 AAD14110;AAH69431;AAH74879;AAH74880;ABZ92418;BAA06524;BAG36390;BAG70218;CAH05606;EAW62503;EAW62504;NP_001197;Q13886 Hs.150557;Hs.602267 1674386;1684910;1856551;2132676 D9S2058;D9S2095;RH80755;WI-20373 BTEB;BTEB1 BTE-binding protein 1;GC-box-binding protein 1;Krueppel-like factor 9;OTTHUMP00000021441;basic transcription element binding protein 1;basic transcription element-binding protein 1;transcription factor BTEB1 APPROVED protein-coding ENSG00000119138 HGNC:1123 04211 602902 REVIEWED 2303693 KLF7P1 kruppel-like factor 7 pseudogene 1 3 3 3 q26.2 169070548 169112570 - 170670648 170712671 - 170952859 170994882 - 100128036 ABBA01058669;AC061708;AMYH02008129;NG_009752 1644887;1721469;1769247;2126626;2159224;2178799 G59588;RH68967;SHGC-77535;SHGC-77538;UniSTS:31408;WIAF-2194 KLF7P APPROVED pseudo HGNC:17207 INFERRED 5131805 KLF8P1 Kruppel-like factor 8 pseudogene 1 16 16 16 q12.1 33264533 33279016 + 48751836 48766310 + 48717925 48732399 + 100128777 ABBA01000903;AC023827;AMYH02031991;NG_011843 pseudo HGNC:41520 INFERRED 1317857 KLHDC1 kelch domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; INTERACTS WITH arsenous acid; clorgyline; diarsenic trioxide 14 14 14 q21.3 30019483 30079883 + 50159823 50219870 + 49693105 49753152 + 6480464;8554872 12477932;14702039;15489334;16964437;18029348;18095942;20549515;23722832 122773 G3V2D3;G3V3T1;G3V4I4;G3V5V5;Q8N7A1 ABBA01018114;ABBA01018115;ABBA01018116;ABBA01018117;AF111806;AK127202;AL591767;AL833437;AMYH02029151;AMYH02029152;AMYH02029153;AMYH02029154;AMYH02029155;BC031270;BC101595;BC101597;BC143596;BC143597;CH471078;CK822678;NM_172193 AAI01596;AAI01598;AAL39008;BAG54451;EAW65752;EAW65753;NP_751943;Q8N7A1 Hs.509258 5022578 D1S1423 MGC126644;MGC126646;MST025 OTTHUMP00000178979;kelch domain-containing protein 1 protein-coding ENSG00000197776 HGNC:19836 13921 611281 VALIDATED 1606164 KLHDC7A kelch domain containing 7A ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; cyclosporin A 1 1 1 p36.13 17137264 17142332 + 18807424 18812540 + 18480930 18485999 + 6480464;8554872 12477932;14702039;20379614;21441570 127707 Q5VTJ3 ABBA01059735;AK096072;AL591896;AMYH02000410;BC101498;BC101500;BC151205;CH471134;NM_152375 AAI01499;AAI01501;AAI51206;BAC04695;EAW94851;NP_689588;Q5VTJ3 Hs.406913;Hs.710799 1688478 RH93043 FLJ38753;RP11-422P22.2 OTTHUMP00000002531;kelch domain-containing protein 7A protein-coding ENSG00000179023 HGNC:26791 08246 VALIDATED 1316101 KLHDC3 kelch domain containing 3 The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012] 6 6 6 p21.1 44534218 44541273 + 42981841 42989036 + 43014103 43021298 + 6480464;8554872 12444059;12477932;12482870;12606021;12755172;14574404;14702039;15146197;15489334;16344560;16751776;17207965;17353931;18187417;18775313;21139048;21145461;23455922;24250222 116138 E7ERR0;F8W6A4;Q9BQ90 AB055925;ABBA01050697;ABBA01050698;AK097719;AK290384;AK302336;AK308917;AL136304;AMYH02013638;BC000295;BC001789;BC001793;BC007296;BC009460;BC012987;BC021546;BC041793;BC045612;CH471081;CN269587;DB057971;DC395338;NM_057161;NR_040101 AAH00295;AAH01789;AAH01793;AAH07296;AAH09460;AAH21546;AAH41793;AAH45612;ADQ32723;BAB63257;BAC05149;BAF83073;BAG63666;EAX04136;EAX04137;EAX04138;EAX04139;EAX04140;EAX04141;EAX04142;NP_476502;Q9BQ90 Hs.412468 1729049;1797146;1852527;2130517;5123583 D6S1897;MEA;RH35864;UniSTS:143850;WI-18871 PEAS;RP1-20C7.3;dJ20C7.3 OTTHUMP00000016414;OTTHUMP00000207001;hPEAS;kelch domain-containing protein 3;testis intracellular mediator protein APPROVED protein-coding ENSG00000124702 HGNC:20704 13922 611248 REVIEWED 1602130 KLHDC10 kelch domain containing 10 FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH cobalt dichloride; coumestrol; elemental selenium 7 7 7 q32.2 124506108 124571332 + 129710349 129775560 + 130070509 130135720 + 6480464 12477932;12690205;20562859;21139048;21145461;23102700;9039502 23008 C9JRT7;C9JRX2;Q6PID8 ABBA01057596;ABBA01057597;ABBA01057598;ABBA01057599;ABBA01057600;AC087071;AF277177;AMYH02016750;BC009977;BC036464;BC044884;CH236950;CH471070;D87454;NM_014997;XM_005250233 AAH09977;AAH36464;AAH44884;AAK07537;BAA13395;EAL24096;EAW83744;EAW83745;EAW83746;NP_055812;Q6PID8;XP_005250290 Hs.520710 1725795;1767889;1852047;2118084;2142690;2153822;2156394 A006N09;G62136;RH36601;RH67951;SGC35002;SHGC-30776;STS-H67652 KIAA0265;slim OTTHUMP00000212346;OTTHUMP00000212347;PNAS-119;kelch domain-containing protein 10;scruin like at the midline homolog protein-coding ENSG00000128607 HGNC:22194 17182 615152 VALIDATED 1315157 KLHDC2 kelch domain containing 2 FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene diol epoxide I 14 14 14 q21.3 30102486 30117555 + 50234787 50249856 + 49767589 49785622 + 6480464 11384994;12097419;12477932;14702039;15489334;15778465;16169070;16964437;17353931;18187417;18187620;21139048;21145461;21890473 23588 G3V2H2;G3V3U8;Q9Y2U9 ABBA01018118;AF113131;AF244137;AK001771;AK056298;AL591767;AMYH02029157;BC002335;BC024192;BX161429;CD356831;CF994676;CH471078;CR457205;KF459555;NM_014315;XM_006720094 AAD21038;AAF66246;AAH02335;AAH24192;ABM86302;ABW03800;BAA91898;BAG51671;CAD61901;CAG33486;EAW65749;EAW65750;NP_055130;Q9Y2U9;XP_006720157 Hs.509264 5112165 RH102062 HCLP-1;HCLP1;LCP OTTHUMP00000178966;OTTHUMP00000244541;OTTHUMP00000244543;hepatocellular carcinoma-associated antigen 33;host cell factor homolog LCP;host cell factor-like protein 1;kelch domain-containing protein 2 protein-coding ENSG00000165516 HGNC:20231 08824 611280 VALIDATED 1605002 KLHDC9 kelch domain containing 9 INTERACTS WITH aflatoxin B1; arsenous acid; copper(2+) sulfate 1 1 1 q23.3 134135326 134137313 + 161068151 161070138 + 161098361 161100348 + 6480464 12107411;12477932;14702039;15159402;15342556;17207965 126823 Q8NEP7 ABBA01016599;AK093268;AL591806;AMYH02002031;AY601914;BC022077;BC032482;BC066896;BG718418;BI549017;BP379202;BQ638407;BU173744;BU622692;CH471121;NM_001007255;NM_152366;NR_033385;NR_033386 AAH22077;AAH32482;AAH66896;AAT09158;ADQ32971;BAC04114;EAW52659;EAW52660;EAW52661;EAW52662;EAW52663;EAW52664;NP_001007256;NP_689579;Q8NEP7 Hs.507290 1736590;1848987;1855827;2157923;5092620 A005B35;D1S2071E;D1S3274;G32219;WI-15774 KARCA1;MGC33338;RP11-544M22.9 OTTHUMP00000029706;OTTHUMP00000217522;kelch domain-containing protein 9;kelch/ankyrin repeat-containing cyclin A1-interacting protein protein-coding ENSG00000162755 HGNC:28489 13751 VALIDATED 1602285 KLHDC8B kelch domain containing 8B This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010] 3 3 3 p21.31 49166287 49171188 + 49208987 49213919 + 49171566 49176486 + 6480464;7240710;8554872;8699517 12477932;14702039;15489334;15498874;18029348;19706467;20107318;20467438;21102462;21906983;22988245;8401585 200942 Q8IXV7;Q96DZ8 ABBA01024607;AC135506;AK002164;AK294160;AMYH02006745;AY129011;BC013110;BC039083;CH471055;CS072427;NG_027702;NM_173546;T08504;XM_005264938;XM_005264939;XM_005264940;XM_006713015;XM_006713016 AAH13110;AAH39083;AAM98754;BAG57483;CAI93565;EAW64961;EAW64962;EAW64963;NP_775817;Q8IXV7;XP_005264995;XP_005264996;XP_005264997;XP_006713078;XP_006713079 Hs.13781 1683020 RH79955 FLJ11302;MGC35097 OTTHUMP00000210678;kelch domain-containing protein 8B APPROVED protein-coding ENSG00000185909 HGNC:28557 14598 236000;613169 REVIEWED 1314410 KLF7 Kruppel-like factor 7 (ubiquitous) The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 2 2 2 q32 201706987 201792085 - 207938861 208031970 - 207074137 207167246 - 1580863;6480464;8554872 12477932;14644156;14702039;14729953;14986829;15342556;15570219;15800012;15937668;16339272;16344560;17351670;17549794;17553693;19147600;21832049;23134681;24207122;9774444 8609 C9JX20;E7EQY2;E7EUU0;E9PHC9;O75840 AB015132;ABBA01062673;ABBA01062674;ABBA01062675;ABBA01062676;AC007879;AC008062;AK000969;AK027371;AK297312;AK314439;AL042506;AMYH02005639;AMYH02005640;BC012919;BP229510;BX537890;CH471063;CR542112;DA023826;DA800775;DC370575;HF546205;HF546206;NM_001270942;NM_001270943;NM_001270944;NM_003709;NR_073108;XM_005246926;XM_006712815;XM_006712816 AAH12919;AAX88867;AAY15081;BAA33521;BAG37050;BAG51308;BAH12543;CAD97885;CAG46909;CCO02791;CCO02792;EAW70400;EAW70401;EAW70402;EAW70403;NP_001257871;NP_001257872;NP_001257873;NP_003700;O75840;XP_005246983;XP_006712878;XP_006712879 Hs.471221;Hs.59908 1662173;1681945;1699116;1752465;1774759;2114268;2175517 RH103134;RH15615;RH18337;RH78593;SHGC-106368;SHGC-52791;WI-13455 UKLF Krueppel-like factor 7;OTTHUMP00000163863;OTTHUMP00000206511;OTTHUMP00000206512;OTTHUMP00000206517;ubiquitous Kruppel-like transcription factor;ubiquitous krueppel-like factor APPROVED protein-coding ENSG00000118263 HGNC:6350 07279 604865 REVIEWED 1602443 KLHDC7B kelch domain containing 7B INTERACTS WITH benzene-1,2,4-triol; copper atom; copper(0) 22 22 22 q13.33 34862494 34865484 + 50986462 50989452 + 50548033 50551023 + 6480464 12477932;15489334;20139978;20372783;8889548 113730 Q96G42 ABBA01042625;AMYH02038618;BC009980;CH471138;CN479146;NM_138433;U62317 AAH09980;EAW73566;NP_612442;Q96G42 Hs.137007 MGC16635 OTTHUMP00000196771;kelch domain-containing protein 7B protein-coding ENSG00000130487 HGNC:25145 14453 VALIDATED 1344199 KLHL10 kelch-like family member 10 INVOLVED IN cell morphogenesis (inferred); fertilization (inferred); homeostasis of number of cells within a tissue (inferred); ASSOCIATED WITH Abnormal sperm morphology (inferred); Autosomal dominant inheritance (inferred); Infertility (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); tamoxifen (ortholog) 17 17 17 q21.2 36645384 36655940 + 39992572 40004599 + 41836320 41848347 + 6480464;8699517;8554872;7240710 12477932;14702039;15136734;15342556;15489334;17047026;20218307;22939624;23676014 317719 C9J999;C9JHB3;Q6JEL2 ABBA01006448;ABBA01006449;AC091172;AC125257;AK057224;AK301797;AK302141;AMYH02033414;AY495339;BC067753;BP371285;CH471152;HC007064;NM_152467;XM_005257273;XM_005257274 AAI60168;AAS91792;BAB71387;BAG63249;BAG63514;CBH19337;EAW60774;NP_689680;Q6JEL2;XP_005257330;XP_005257331 Hs.127510 1685948;2107249;2174261 Cda17c01;KLHL10__7470;RH35998 FLJ32662;SPGF11 OTTHUMP00000201840;kelch-like 10;kelch-like protein 10 APPROVED protein-coding ENSG00000161594 HGNC:18829 12296 608778;615081 VALIDATED 1346633 KLHL12 kelch-like family member 12 INVOLVED IN COPII vesicle coating; ER to Golgi vesicle-mediated transport; protein monoubiquitination; PARTICIPATES IN Wnt signaling, canonical pathway; FOUND IN Cul3-RING ubiquitin ligase complex; ER to Golgi transport vesicle; Golgi membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; 5-aza-2'-deoxycytidine 1 1 1 q32.1 175989447 176025617 - 202860230 202897766 - 202891102 202928638 - 737633;6480464;6484113 12477932 14702039;15383316;15489334;16108817;16189514;16196087;16547521;16713569;17543862;18303015;18775313;19295130;19536175;20100572;21139048;21145461;21906983;21963094;23676014;24457600;24722188;24778252;8125298 59349 J3QSX3;Q53G59;Q9H7R2 ABBA01027491;ABBA01027492;ABBA01027493;ABBA01027494;ABBA01027495;AC096632;AF190900;AF306687;AF306689;AK024412;AK027656;AK130662;AK223072;AK301791;AMYH02002505;BC003183;BC004175;CH471067;NM_021633;XM_005245403;XM_006711478;XM_006711479 AAG17175;AAH03183;AAH04175;ABZ92369;BAB14914;BAB55271;BAD96792;BAH13554;EAW91444;EAW91445;EAW91446;EAW91447;EAW91448;NP_067646;Q53G59;XP_005245460;XP_006711541;XP_006711542 Hs.706793 1688911;1693042;1719259;2183483 AL034249;RH123350;RH38852;SHGC-76168 C3IP1;DKIR;FLJ27152;hDKIR CUL3-interacting protein 1;DKIR homolog;OTTHUMP00000038799;kelch-like 12;kelch-like protein 12;kelch-like protein C3IP1 APPROVED protein-coding ENSG00000117153 HGNC:19360 13925 614522 PROVISIONAL 1605377 KLHDC8A kelch domain containing 8A This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 1 1 1 q32.1 178440807 178461212 - 205305193 205326218 - 205336065 205357090 - 6480464;8554872 12477932;14702039;15489334;17207965;20133782 55220 Q8IYD2;U3KPW1;U3KPX9;U3KQC2;U3KQH1;U3KQI4;U3KQK4 AA908205;ABBA01027418;AC098933;AC098936;AI698122;AK001610;AK096590;AK299227;AMYH02002547;AX877107;BC036076;CH471067;DA497063;DA682691;DA718283;DA776996;DB055006;NM_001271863;NM_001271864;NM_001271865;NM_018203;XM_006711429 AAH36076;ADQ31686;BAA91787;BAG53332;BAH12975;CAE89574;EAW91550;EAW91551;EAW91552;EAW91553;NP_001258792;NP_001258793;NP_001258794;NP_060673;Q8IYD2;XP_006711492 Hs.10414;Hs.745401 1756573;2122706;2156896;2170113 D1S1889E;SHGC-143606;SHGC-31997;SHGC-76217 FLJ10748 OTTHUMP00000035321;OTTHUMP00000035322;S-delta-E1;kelch domain-containing protein 8A;substitute for delta-EGFR expression 1 protein-coding ENSG00000162873 HGNC:25573 07696 614503 REVIEWED 1342476 KLHL13 kelch-like family member 13 This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] X X X q23-q24 117486583 117706100 - 117031776 117251303 - 117897813 118117340 - 1580863;6480464;6907045;8554872 10718198;12477932;14702039;15342556;15489334;15772651;16344560;17543862;18075312;18247557;18775313;19084217;19295130;19615732;19995937;21145461;21890473;21906983;21963094;22939624;23314748;23676014 90293 B7ZB44;C9JTS9;Q96HC9;Q9P2N7 AB037730;ABBA01036843;ABBA01036844;ABBA01036845;ABBA01036846;ABBA01036847;ABBA01036848;ABBA01036849;ABBA01036850;ABBA01036851;ABBA01036852;ABBA01036853;ABBA01036854;ABBA01036855;ABBA01036856;ABBA01036857;ABBA01036858;ABBA01036859;ABBA01036860;AC003012;AC006963;AC006968;AK001124;AK122724;AK125356;AK296324;AK297523;AK299257;AK302713;AK316509;AL590114;AL591986;AMYH02040308;AMYH02040309;AMYH02040310;AMYH02040311;AMYH02040312;AMYH02040313;BC008729;BC064576;BP380009;CH471161;DA214831;DA413195;DB074659;DC343916;DC354391;NG_016759;NM_001168299;NM_001168300;NM_001168301;NM_001168302;NM_001168303;NM_033495 AAF03529;AAH08729;AAH64576;ABZ92079;BAA91514;BAA92547;BAG53690;BAG54189;BAH12315;BAH12605;BAH12978;BAH13788;BAH14880;CAC41335;EAW89898;EAW89899;EAW89900;NP_001161771;NP_001161772;NP_001161773;NP_001161774;NP_001161775;NP_277030;Q9P2N7 Hs.348262 1691580;1701812;1702000;1776729;2123188;2172340;5095882;5491886 AF020103;AL031562;AL032573;DXS1305;DXS7918;DXS8218;KLHL13;RH65357 BKLHD2;FLJ10262;KIAA1309;MGC74791 BTB and kelch domain containing 2;OTTHUMP00000023881;OTTHUMP00000023882;OTTHUMP00000023883;OTTHUMP00000023885;OTTHUMP00000215715;kelch-like 13;kelch-like protein 13 APPROVED protein-coding ENSG00000003096 HGNC:22931 06461 300655 REVIEWED 1321388 KLHL14 kelch-like family member 14 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH (-)-demecolcine; 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine 18 18 18 q12.1 27060909 27161231 - 30252634 30353815 - 32672671 32773011 - 737633;1580863;6480464;8554872 12477932 10718198;19535332;20379614;22939624;23569223;23676014 57565 J3QQM3;Q9P2G3 AB037805;ABBA01022478;ABBA01022479;ABBA01022480;ABBA01022481;AC012123;AC025887;AK294996;AMYH02034528;BC021267;CH471088;NM_020805;XM_006722512 AAH21267;BAA92622;BAG58061;EAX01294;EAX01295;EAX01296;NP_065856;Q9P2G3;XP_006722575 Hs.446164 1704322;1718975;1755937;2219860 KLHL14__6528;RH123196;SHGC-142763;SHGC-83303 kelch-like 14;kelch-like protein 14;printor;protein interactor of Torsin-1A;protein interactor of torsinA APPROVED protein-coding ENSG00000197705 HGNC:29266 17238 613772 PROVISIONAL 1351915 KLHL15 kelch-like family member 15 This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009] X X X p22.1-p21 28123598 28167503 - 24001833 24045303 - 23983716 24027186 - 1580863;6480464 11214970;12477932;14528312;14702039;15489334;15870933;19615732;21145461;21906983;21963094;22939624;23135275;23676014 80311 Q96M94;V9HWF1 AA825676;AB051464;ABBA01072267;ABBA01072268;ABBA01072269;ABBA01072270;ABBA01072271;AC079169;AC079376;AK057298;AL834313;AMYH02039040;AMYH02039041;BC015415;BC109058;BC109059;CH471074;EU794630;NG_012625;NM_030624;XM_005274596;XM_006724518 AAH15415;AAI09059;AAI09060;ACJ13684;BAB21768;BAB71415;CAD38983;EAW99007;EAW99008;NP_085127;Q96M94;XP_005274653;XP_006724581 Hs.495854 1683505;1787276 RH103164;SHGC-144706 HEL-S-305;KIAA1677;MGC126148;MGC126149 OTTHUMP00000023075;epididymis secretory protein Li 305;kelch-like 15;kelch-like protein 15 APPROVED protein-coding ENSG00000174010 HGNC:29347 REVIEWED 1348319 KLHL17 kelch-like family member 17 The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010] 1 1 1 p36.33 1690578 1695031 - 895967 901099 + 960587 965719 + 625502;6480464;8554872 12063253 12477932;16710414;21145461;23676014 339451 J3QLT4;Q6TDP4 AA774437;ABBA01016005;AK127585;AK293258;AL645608;AMYH02000071;AY423763;BC033192;BC045768;BC105742;CA432461;CH471183;NG_027546;NM_198317;XM_005244744;XM_006710600;XM_006710601;XR_426604;XR_426605 AAH45768;AAI05743;AAI66618;AAR03710;BAG54529;BAG56790;EAW56300;EAW56301;EAW56302;EAW56303;NP_938073;Q6TDP4;XP_005244801;XP_006710663;XP_006710664 Hs.109212 1699068;1757941 RH103110;SHGC-146903 RP11-54O7.6 OTTHUMP00000038433;actinfilin;kelch-like 17;kelch-like protein 17 APPROVED protein-coding ENSG00000187961 HGNC:24023 13926 REVIEWED 1351976 KLHL18 kelch-like family member 18 INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; bisphenol A 3 3 3 p21.31 47262930 47326952 + 47324116 47388306 + 47282786 47346816 + 737633;1580863;6480464 12477932 11076863;11230166;14702039;15489334;15489336;16381901;19295130;19615732;21145461;23676014;9872452 23276 B4DHW4;C9J4G4;F8WCL4;F8WF78;O94889 AB018338;AB062478;ABBA01024698;ABBA01024699;AC104447;AI356423;AK001337;AK023765;AK291477;AK295292;AMYH02006685;AMYH02006686;AMYH02006687;AMYH02006688;AMYH02006689;AY714879;BC015962;BC016388;BC032620;BU625052;BX537953;CH471055;NM_025010;XM_005265001;XM_005265002;XM_005265003;XM_006713079 AAH15962;AAH16388;AAH32620;AAU21222;BAA34515;BAB14670;BAB93503;BAF84166;BAG58276;CAD97920;CAL38147;CAL38642;EAW64818;EAW64819;EAW64820;EAW64821;NP_079286;O94889;XP_005265058;XP_005265059;XP_005265060;XP_006713142 Hs.517946 1725247;2121638;2156433;2160144;2183325 D3S2848E;D3S4067;D3S4079;RH113;RH118916 FLJ13703;FLJ61265;KIAA0795 OTTHUMP00000210050;kelch-like protein 18 APPROVED protein-coding ENSG00000114648 HGNC:29120 10017 VALIDATED 1314975 KLHL2 kelch-like family member 2 ENCODES a protein that exhibits actin binding; INVOLVED IN protein ubiquitination (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN actin cytoskeleton; Cul3-RING ubiquitin ligase complex (ortholog); cytoplasm (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; clorgyline 4 4 4 q21.2 163459950 163579735 + 166128770 166244308 + 165207618 165323156 + 1580863;6480464;8554872 10397770;12477932;15383316;15489334;15735724;16035103;16189514;16344560;19121354;20360068;20379614;21145461;21549840;23676014;23838290;24641320 11275 B4DFZ5;D6R9G5;D6RAP5;D6RGC3;E9PEX9;O95198 AB209727;ABBA01070291;AC012504;AC055120;AC107059;AF059569;AI814691;AK025289;AK294103;AK294336;AK308940;AK315372;AL541403;AMYH02010439;BC022503;BC036468;BX647776;CH471056;DA250099;NM_001161521;NM_001161522;NM_007246;XM_005262710;XM_006714074 AAC67502;AAH22503;AAH36468;ABM84564;ABM86514;BAD92964;BAG37765;BAG57438;BAG57606;EAX04822;EAX04823;EAX04824;EAX04825;NP_001154993;NP_001154994;NP_009177;O95198;XP_005262767;XP_006714137 Hs.388668 1657109;1657111;1705092;1709758;1713289;1719389;2158318;2182214;2190557 D4S1261;D4S1274;EST27A10;G34440;RH120636;RH123422;SHGC-67795;SHGC-79963;SHGC-84692 ABP-KELCH;MAV;kelch MAYVEN;OTTHUMP00000219994;OTTHUMP00000219995;OTTHUMP00000219997;OTTHUMP00000219998;actin-binding protein Mayven;kelch-like 2, Mayven;kelch-like protein 2 APPROVED protein-coding ENSG00000109466 HGNC:6353 09311 605774 VALIDATED 1316652 KLHL1 kelch-like family member 1 The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010] 13 13 13 q21 51176734 51584696 - 70274725 70682625 - 69700593 70108493 - 1580863;6480464;8554872 10819331;10888605;12477932;14702039;15057823;15761153;16982692;17289272;18187620;18708037;19734545;20147652;20379614;21427078;21963094;22085899;22939624;22952603;23251661;23676014;24204828 57626 B7Z3I8;F5H1J3;Q8TBJ7;Q9NR64 AB040923;ABBA01050309;ABBA01050310;ABBA01050311;ABBA01050312;AF252279;AF252283;AK054609;AK291435;AK295939;AL160391;AL162378;AL353738;AL356384;AL590554;AL596302;AMYH02028214;AMYH02028215;AMYH02028216;AMYH02028217;AMYH02028218;AMYH02028219;BC022460;CH471093;NM_001286725;NM_020866 AAF81716;AAF81719;AAH22460;ABM81824;ABM84978;BAA96014;BAF84124;BAH12224;EAW80503;NP_001273654;NP_065917;Q9NR64 Hs.508201 1340040;1649571;1680875;1703642;1705416;1714651;1718685;1737347;1737363;1759203;1848045;1855269;2121834;2164862;5094983 D13S1154;D13S1296;D13S1649;D13S318;D13S942;D13S954;KLHL1;RH119990;RH123033;RH48019;RH65808;SHGC-151142;SHGC-24183;SHGC-78755;SHGC-83571 FLJ30047;KIAA1490;MRP2 Mayven-related protein 2;OTTHUMP00000018492;kelch-like protein 1 APPROVED protein-coding ENSG00000150361 HGNC:6352 05623 605332 VALIDATED 1343100 KLHL20 kelch-like family member 20 The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008] 1 1 1 q25.1 146793483 146865313 + 173684063 173755960 + 173714924 173786822 + 6480464;6484113;8554872 10603472;10888605;12477932;12493773;14668487;14702039;15489334;16169070;16710414;16712791;17395875;18029348;19615732;20389280;21145461;21840486;21888897;21890473;21906983;23455924;23676014;24768539 27252 B4DUR0;Q9Y2M5 AB026190;ABBA01027900;ABBA01027901;ABBA01027902;AJ844466;AK001430;AK300755;AK308048;AL109921;AMYH02002156;BC005253;BC063418;BX248409;CB143306;CH471067;KF510699;NM_014458;XM_005245093;XM_006711277 AAH05253;AAH63418;BAA77027;BAG50912;BAG62422;CAH59617;EAW90952;EAW90953;EAW90954;EAW90955;NP_055273;Q9Y2M5;XP_005245150;XP_006711340 Hs.495035 2141824;2158051 AL009545;SHGC-75892 KHLHX;KLHLX;RP3-383J4.3 KLEIP;Kelch motif containing protein;OTTHUMP00000038347;kelch-like 20;kelch-like ECT2 interacting protein;kelch-like ECT2-interacting protein;kelch-like protein 20;kelch-like protein X APPROVED protein-coding ENSG00000076321 HGNC:25056 13918 REVIEWED 1322601 KLHDC4 kelch domain containing 4 INTERACTS WITH 2-methylcholine; benzene; formaldehyde 16 16 16 q24 72038352 72096399 - 87730239 87799603 - 87696653 87765997 - 6480464 11694876;12477932;14702039;15302935;15342556;15489334;17081983;20301334;20301701;21044950;21906983;21963094;23455924;24816145 54758 H3BP99;H3BQ90;H3BQH3;H3BQL0;H3BTB1;H3BUX8;H3BV82;Q8TBB5 ABBA01006915;ABBA01006916;ABBA01006917;ABBA01006918;AC010536;AK001742;AK023986;AK024496;AK057211;AK092895;AK097097;AK098630;AL133107;AMYH02032619;AMYH02032620;AMYH02032621;AMYH02032622;AY251274;BC001044;BC011680;BC022969;BP215584;CH471114;KF456219;NM_001184854;NM_001184856;NM_017566;XM_005255994;XM_005255998;XM_005255999;XM_005256001;XM_006721201;XM_006721202;XM_006721203;XM_006721204;XM_006721205;XR_424741;XR_429719;XR_429720;XR_429791;XR_433307 AAH01044;AAH11680;AAH22969;AAP04412;BAB14756;BAB15786;BAG53422;CAB61413;EAW95376;EAW95377;EAW95378;EAW95379;EAW95380;EAW95381;EAW95382;EAW95383;EAW95385;NP_001171783;NP_001171785;NP_060036;Q8TBB5;XP_005256051;XP_005256055;XP_005256056;XP_005256058;XP_006721264;XP_006721265;XP_006721266;XP_006721267;XP_006721268 Hs.123450 1647690;2178507 RH48429;SHGC-60765 DKFZp434G0522;FLJ00104 OTTHUMP00000175012;kelch domain-containing protein 4 protein-coding ENSG00000104731 HGNC:25272 11180 VALIDATED 1315423 KLHL11 kelch-like family member 11 INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 17 17 17 q21.2 36661140 36672965 - 40009799 40021629 - 41853547 41865376 - 1580863;6480464 12477932;14702039;15489334;21139048;21145461;21890473;21906983;21963094;22053931;22505724;23000965;23314748;23349464;23676014;24250222 55175 Q9NVR0 ABBA01006448;AC091172;AC125257;AK001434;AK301952;AMYH02033414;BC034470;CH471152;NM_018143 AAH34470;BAA91689;BAG63367;EAW60775;EAW60776;NP_060613;Q9NVR0 Hs.592134 1653211;2184417;2219858 D17S2155;KLHL11__6526;WI-20027 FLJ10572 OTTHUMP00000164771;kelch-like 11;kelch-like protein 11 APPROVED protein-coding ENSG00000178502 HGNC:19008 13924 PROVISIONAL 1602999 KLHL22 kelch-like family member 22 INVOLVED IN cell division; mitotic sister chromatid segregation; mitotic spindle assembly checkpoint; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; Cul3-RING ubiquitin ligase complex; cytoplasm; INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 22 22 22 q11.21 4282529 4336886 - 20795806 20850170 - 20441519 20495883 - 6480464;8554872 12477932;14702039;15461802;15489334;16344560;17543862;18775313;19295130;19615732;19995937;21139048;21145461;21890473;21906983;22797925;22939624;23393555;23455478;23676014;24067371;24250222;8125298 84861 B7Z2G1;C9J191;C9J2T1;C9J5F8;C9JHG1;C9JLE9;C9JRG9;H7BZZ5;Q53GT1 ABBA01015454;ABBA01015455;AC007731;AK024369;AK027266;AK222850;AK290669;AK294682;AMYH02038076;AMYH02038077;BC015923;CH471176;CR456352;DA381792;NM_032775;NR_033825;XM_006724342;XM_006724343 AAH15923;BAB55007;BAD96570;BAF83358;BAH11847;CAG30238;CAK54493;CAK54792;EAX02961;EAX02962;EAX02963;EAX02964;NP_116164;Q53GT1;XP_006724405;XP_006724406 Hs.517419 1684298;2126597;5014051;5020740;5021872;5037552;5118576 D11S3430;D8S2278;D8S2279;L17809;RH93744;STS-N38751;sY3084 KELCHL OTTHUMP00000198478;OTTHUMP00000198518;kelch-like 22;kelch-like protein 22 APPROVED protein-coding ENSG00000099910 HGNC:25888 07858 VALIDATED 1351698 KLHL21 kelch-like family member 21 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN chromosome passenger complex localization to spindle midzone; protein ubiquitination; regulation of cytokinesis; ASSOCIATED WITH Melanoma (inferred); FOUND IN Cul3-RING ubiquitin ligase complex; polar microtubule; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 1 1 1 p36.31 5764642 5776787 - 6650784 6662958 - 6590724 6602898 - 1580863;6480464;8554872 12477932;14702039;16303743;16710414;19995937;21145461;21906983;21963094;21987572;22053931;22505724;23455478;23676014;24778252;9455484 9903 K7ELI0;K7EMF2;K7ESH2;Q9UJP4 AB007938;ABBA01035458;AK057164;AK075305;AK090472;AK307564;AL591866;AMYH02000179;BC034039;BC064980;BC091648;BC111766;CH471130;NM_014851;XM_005263542 AAH34039;AAH91648;AAI11767;BAA32314;BAC03453;BAG52104;EAW71558;EAW71559;NP_055666;Q9UJP4;XP_005263599 Hs.7764 1664171;2136257;2137978;5022651 A002O35;D11S2921;D1S1873E;D1S3612 KIAA0469;MGC99635 OTTHUMP00000001572;OTTHUMP00000001573;kelch-like 21;kelch-like protein 21 APPROVED protein-coding ENSG00000162413 HGNC:29041 17239 PROVISIONAL 1605054 KLHL25 kelch-like family member 25 INVOLVED IN protein ubiquitination; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; regulation of translational initiation; ASSOCIATED WITH Melanoma (inferred); FOUND IN Cul3-RING ubiquitin ligase complex; cytoplasm; INTERACTS WITH atrazine; paracetamol; zinc atom 15 15 15 q25.3 62702507 62738117 - 86302557 86338189 - 85759323 85794958 - 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16344560;16381901;17903295;21145461;22578813;22939624;23000965;23594818;23676014;24025145;24816145 64410 Q9H0H3 ABBA01052969;AC021739;AK022649;AK056663;AK092231;AK126962;AK315541;AL109693;AL136796;AMYH02030971;AMYH02030972;AY764034;BC028100;CH471101;DA337553;DB063745;NM_022480;XM_006720635 AAH28100;AAV51405;ABZ92048;BAB14155;BAG37919;BAG51779;BAG52499;CAB66730;CAL37895;CAL38651;EAX01979;NP_071925;Q9H0H3;XP_006720698 Hs.498371 1664746 WI-13910 ENC-2;ENC2;FLJ12587;FLJ45015 BTB/POZ KELCH domain protein;OTTHUMP00000192901;ectoderm-neural cortex protein 2;ectodermal-neural cortex 2;kelch-like 25;kelch-like protein 25 APPROVED protein-coding ENSG00000183655 HGNC:25732 07780 VALIDATED 6483938 KLHL2P1 kelch-like family member 2 pseudogene 1 4 4 q26 120255484 120299388 + 119334329 119378233 + 20379614;9847074 729249 ABBA01044706;ABBA01044707;AC092656;AC110373;AMYH02009989;NG_012269 1657109;1657111;1709758;2158318;2182214 D4S1261;D4S1274;G34440;SHGC-67795;SHGC-84692 MAVP1 APPROVED pseudo HGNC:44046 INFERRED 1603221 KLHL24 kelch-like family member 24 FOUND IN cell projection (inferred); cytoplasm (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 3,3',4,4'-tetrachlorobiphenyl 3 3 3 q27.1 181794950 181843839 + 183353398 183402307 + 183635610 183684519 + 6480464 12477932;14702039;17254796;18692513;19322201;19615732;21145461;21890473;21963094;23000965;23512275;23676014 54800 C9J0A6;C9J2N4;C9J3M5;C9JCK3;C9JMQ9;C9JN72;C9JQ67;C9JXR5;Q6TFL4 ABBA01058475;AC068769;AK000066;AK024270;AK026326;AK098662;AMYH02008287;AMYH02008288;AMYH02008289;AMYH02008290;AY422472;BC142993;BX648466;BX648812;CH471052;CQ859794;DQ925701;NM_017644;XM_005247552;XM_005247553;XM_005247554;XM_005247555;XM_005247556;XM_006713674;XR_241499 AAI42994;AAI43061;AAR13703;ABI96896;BAA90921;BAB15447;CAH25947;CAI46002;CAI46031;EAW78319;EAW78320;NP_060114;Q6TFL4;XP_005247609;XP_005247610;XP_005247611;XP_005247612;XP_005247613;XP_006713737 Hs.407709 1341893;1746785;1754763;2109249;2126776;2180986;5015619;5015961;5022651;5037552 D11S2921;D11S3114;D15S1477;D3S1618;D8S2279;DRE1_9818;G64810;SHGC-33134;SHGC-77591;SHGC-77598 DRE1;FLJ25796;KRIP6 OTTHUMP00000211001;OTTHUMP00000211002;OTTHUMP00000212605;kainate receptor interacting protein for GluR6;kainate receptor-interacting protein for GluR6;kelch-like 24;kelch-like protein 24 APPROVED protein-coding ENSG00000114796 HGNC:25947 16838 611295 VALIDATED 1605864 KLHL23 kelch-like family member 23 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 q31.1 164169808 164225250 + 170590356 170608396 + 169733846 169751886 + 6480464;8554872 10737800;12477932;14702039;15489334;16765319;19615732;21145461;21890473;21900206;21906983;22505724;22939624;23251661;23676014 151230 H7C0F4;H7C1K9;Q8NBE8;S4R3P4;S4R452 ABBA01014893;ABBA01014894;ABBA01014895;ABBA01014896;AC009967;AC016772;AK095131;AK123454;AMYH02005189;AMYH02005190;AMYH02005191;AMYH02005192;AMYH02005193;BC010437;BC016950;BE326381;BJ990781;BQ343827;CH471058;NM_144711;R08525 AAH10437;AAH16950;ADR82752;BAC04490;EAX11261;NP_653312;Q8NBE8 Hs.655150;Hs.745233 1651803;1651805;1671163;1675702;1784276;2114357 A005O14;Cda1cg02;G20372;RH36243;RH79855;SHGC-172949 DITHP;FLJ37812;FLJ41460;MGC22679;MGC2610 OTTHUMP00000163068;OTTHUMP00000204783;kelch-like 23;kelch-like protein 23 APPROVED protein-coding ENSG00000213160 HGNC:27506 11320 VALIDATED 1602473 KLHL26 kelch-like family member 26 INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; cyclosporin A 19 19 19 p13.11 18650015 18683043 + 18747835 18781308 + 18637028 18670514 + 6480464 12477932;14702039;15489334;16169070;16713569;21139048;21145461;21906983;21963094;21987572;22419666;22505724;22939624;23676014;24250222;8125298 55295 M0QXE1;M0R049;M0R1N0;M0R1P3;Q53HC5 ABBA01051277;ABBA01051278;AC004476;AC008998;AK001940;AK222656;AK294074;AMYH02035737;AMYH02035738;BC026319;CH471106;NM_018316;XM_006722785 AAH26319;ADZ15731;BAA91990;BAD96376;BAG57416;EAW84728;EAW84729;NP_060786;Q53HC5;XP_006722848 Hs.250632 1336238;1721619;2147929;2153963 A004Q16;D19S895;G59820;RH48500 FLJ11078 kelch-like 26;kelch-like protein 26 APPROVED protein-coding HGNC:25623 07728 PROVISIONAL 1606872 KLHL30 kelch-like family member 30 INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); titanium dioxide (ortholog) 2 2 2 q37.3 232759906 232774089 + 239047310 239061547 + 238138722 238152906 + 6480464 12477932;14702039;15489334;23676014 377007 Q0D2K2 ABBA01042601;ABBA01042602;AC016757;AK125364;AMYH02006071;BC103703;BC104749;BC105696;BX280405;CH471063;NM_198582 AAI05697;BAC86148;EAW71141;NP_940984;Q0D2K2 Hs.591595 5020948 G35510 FLJ43374 OTTHUMP00000202680;kelch-like 30;kelch-like protein 30 APPROVED protein-coding ENSG00000168427 HGNC:24770 13472 VALIDATED 1605890 KLHL29 kelch-like family member 29 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 2 2 2 p24.1 23450093 23772958 + 23608298 23931483 + 23385427 23708613 + 6480464;8554872 10737800;11572484;12477932;14702039;15489334;19240061;19913121;20379614;20628086;21347282;21546767;22939624;23251661;23676014;24778252 114818 H0Y2P5;Q96CT2 AA775711;AB067508;ABBA01045092;ABBA01045093;AC009242;AC011239;AC012506;AK024168;AK094600;AL834515;AMYH02003400;AMYH02003401;AMYH02003402;AMYH02003403;AMYH02003404;AMYH02003405;AMYH02003406;AMYH02003407;BC013982;BC015667;BC069271;BE142100;CH471053;DR002067;KF510798;NM_052920;XM_006711929 AAH13982;AAH15667;AAH69271;AAY14852;ADZ15399;BAB67814;CAD39171;EAX00791;NP_443152;Q96CT2;XP_006711992 Hs.130593 1340804;1705656;1706546;1710356;1747759;1759139;1851544;2158597;2160732;2180203 D2S2337;G66811;RH36252;RH45302;SHGC-150971;SHGC-52422;SHGC-81248;SHGC-82435;SHGC-83402;STS-M78941 KBTBD9;KIAA1921 OTTHUMP00000216456;kelch repeat and BTB (POZ) domain containing 9;kelch repeat and BTB domain-containing protein 9;kelch-like 29;kelch-like protein 29 APPROVED protein-coding ENSG00000119771 HGNC:29404 VALIDATED 1349564 KLHL30-AS1 KLHL30 antisense RNA 1 2 q37.3 238726269 238729374 - 12477932;15489334;15815621 394261 Q8NEE0 AC016757;AI693711;BC031945;CH471063;NM_001024676 AAY24334;EAW71142;NP_001019847;Q8NEE0 Hs.591596 APPROVED ncrna HGNC:31018 18620 1346820 KLHL3 kelch-like family member 3 This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012] 5 5 5 q31 133075978 133193214 - 136953189 137150310 - 137617500 137736090 - 1580863;6480464;8699517;7240710;8554872 10574461;10734137;10843806;11259487;12477932;14528312;14702039;15372022;16344560;19322201;22266938;22406640;23387299;23453970;23573258;23576762;23665031;23676014;23838290;23897914;23962426;24266877;24641320 26249 D6R9K4;D6RH21;Q8N4I8;Q9UH77 AB032955;ABBA01068704;ABBA01068705;ABBA01068706;ABBA01068707;AC004021;AC092318;AC106775;AF208068;AF208069;AF208070;AK300172;AK303916;AK310568;AK311594;AK314707;AMYH02012272;AMYH02012273;AMYH02012274;AMYH02012275;AMYH02012276;BC034035;BC045683;CH471062;DA083147;NG_032569;NM_001257194;NM_001257195;NM_017415 AAB97127;AAF20938;AAF20939;AAF20995;AAH34035;AAH45683;BAA86443;BAG37254;BAH13228;BAH14080;EAW62183;EAW62184;NP_001244123;NP_001244124;NP_059111;Q9UH77 Hs.655084 1341676;1651489;1672332;1697020;1780644;1850991;1852794;2145491;2174245;2219862 AFM350yb1;D5S1983;EST179535;KLHL3__6338;L28221;L28232;L31431;RH101986;SGC32895;bac51504T FLJ40871;KIAA1129;MGC44594;PHA2D OTTHUMP00000159431;OTTHUMP00000223401;OTTHUMP00000223402;OTTHUMP00000223403;kelch-like protein 3 APPROVED protein-coding ENSG00000146021 HGNC:6354 09011 605775;614495 REVIEWED 1642111 KLHL33 kelch-like family member 33 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methoxyethanol (ortholog); cadmium dichloride (ortholog); cocaine (ortholog) 14 14 14 q11.2 758117 764951 - 20895866 20904354 - 20427705 20436195 - 6480464;8554872 12477932;16368877;23676014 123103 A6NCF5;B2RUZ8 ABBA01061228;AL355075;AMYH02028824;BC146951;BC146954;BC151130;BY797694;CH471078;NM_001109997;XM_005267347 A6NCF5;AAI46952;AAI46955;AAI51131;EAW66474;NP_001103467;XP_005267404 Hs.556014 OTTHUMP00000244784;kelch-like 33;kelch-like protein 33 APPROVED protein-coding ENSG00000185271 HGNC:31952 VALIDATED 1603872 KLHL34 kelch-like family member 34 FOUND IN extracellular space; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine X X X p22.12 25794508 25797347 - 21673609 21676448 - 21655491 21658330 - 6480464 12477932;14702039;15489334;15772651;22939624;23676014 257240 Q8N239 ABBA01071985;ABBA01071986;AK092279;AL772392;AMYH02039000;BC109031;CH471074;NM_153270 AAI09032;BAC03848;EAW98979;NP_695002;Q8N239 Hs.448572 1659052;2159585 DXS8249;RH46327 FLJ34960;MGC125650;RP11-450P7.3 OTTHUMP00000023043;kelch-like 34;kelch-like protein 34 APPROVED protein-coding HGNC:26634 06558 PROVISIONAL 1322718 KLHL28 kelch-like family member 28 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; amiodarone 14 14 14 q21.2 25254783 25292435 - 45393527 45431179 - 44924324 44961976 - 1580863;6480464;8554872 12477932;14702039;15489334;16344560;21139048;21145461;23676014;8125298 54813 G3V2P9;G3V4Y0;G3V5Y9;J3KNY7;J3KRJ0;Q9NXS3 ABBA01018044;ABBA01018045;AK000088;AK225183;AK225211;AK289855;AL049870;AL713035;AMYH02029100;AMYH02029101;BC012473;BC057794;BC121009;BC121010;BM998529;CA433205;CH471078;DA247273;DA529695;NM_017658;XM_005267769;XM_005267770;XM_006720174 AAI21010;AAI21011;BAA90937;BAF82544;EAW65792;EAW65793;EAW65794;EAW65795;NP_060128;Q9NXS3;XP_005267826;XP_005267827;XP_006720237 Hs.550906 1698162;2109097;2136709;2140005;5015961;5024039;5037552;5093700 A009V11;BTBD5_9825;D15S1477;D16S325;D8S2279;G32872;G36186;RH102616 BTBD5;FLJ20081 BTB (POZ) domain containing 5;BTB/POZ domain-containing protein 5;OTTHUMP00000178912;OTTHUMP00000178913;kelch-like 28;kelch-like protein 28 APPROVED protein-coding ENSG00000179454 HGNC:19741 12539 VALIDATED 2300033 KLHL38 kelch-like family member 38 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); dibutyl phthalate (ortholog) 8 8 8 q24.13 120845677 120852952 - 124657743 124666041 - 123645503 123653800 - 6480464 12477932;20379614;22939624;23676014 340359 Q2WGJ6 AB196636;ABBA01037880;AC135166;AMYH02018708;BC127886;CH471060;NM_001081675;XM_005250901 AAI27887;BAE53438;EAW92045;NP_001075144;Q2WGJ6;XP_005250958 Hs.450252 1731893 D8S44 C8ORFK36 OTTHUMP00000228097;kelch-like 38;kelch-like protein 38 APPROVED protein-coding ENSG00000175946 HGNC:34435 VALIDATED 1350475 KLHL36 kelch-like family member 36 INVOLVED IN protein ubiquitination (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; cisplatin 16 16 16 q24.1 68984322 68998096 + 84682131 84701187 + 84648525 84667581 + 6480464;8554872 12477932;14702039;15489334;20966902;21145461;21906983;22939624;23676014 79786 H3BPB9;H3BQE9;H3BQW5;Q8N4N3 ABBA01016902;ABBA01016903;AC009116;AK022605;AK056197;AK056428;AK074056;AK122745;AMYH02032569;BC008051;BC032400;BC033821;CH471114;NM_024731;XM_005256149;XR_243425 AAH32400;AAH33821;ABZ92060;ADR82747;BAB14124;BAB84882;EAW95473;EAW95474;NP_079007;Q8N4N3;XP_005256206 Hs.222731;Hs.578546 1783430;5022322;5024039;5037552;5116960 D11S2560;D16S325;D8S2279;SHGC-156020;ha2363 C16orf44;FLJ12543 OTTHUMP00000174995;kelch-like 36;kelch-like protein 36 APPROVED protein-coding ENSG00000135686 HGNC:17844 12675 PROVISIONAL 1349490 KLHL4 kelch-like family member 4 This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X X q21.3 87012392 87164729 + 86772715 86925050 + 87517712 87670050 + 1580863;6480464;8554872 10888605;11214970;11401425;11499681;12477932;14702039;15772651;16344560;18029348;18039948;21145461;23676014 56062 A5PKX1;Q9C0H6 AB051474;ABBA01051900;ABBA01051901;ABBA01051902;ABBA01051903;ABBA01051904;ABBA01051905;ABBA01051906;ABBA01051907;ABBA01051908;ABBA01051909;ABBA01051910;ABBA01051911;ABBA01051912;ABBA01051913;ABBA01051914;AF284765;AF284766;AK022715;AK023057;AK056457;AL035424;AL121884;AL831868;AL832514;AMYH02039915;AMYH02039916;BC140839;BC140840;BC142652;BC146677;BC161675;CH471104;DB083610;KF510688;NG_012815;NM_019117;NM_057162;Z95400 AAI40840;AAI40841;AAI42653;AAI46678;AAI61675;AAK49441;AAK49442;BAB14199;BAB14382;BAB21778;BAG51715;CAD38558;CAI46201;EAW98552;EAW98553;NP_061990;NP_476503;Q9C0H6 Hs.49075 1733978;2158946;5017901 DXS262;KLHL4;WI-13626 DKELCHL;KHL4;KIAA1687 OTTHUMP00000023632;OTTHUMP00000023633;kelch-like protein 4 APPROVED protein-coding ENSG00000102271 HGNC:6355 02283 300348 REVIEWED 1348720 KLHL31 kelch-like family member 31 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; progesterone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 p12.1 55174866 55192685 - 53512699 53530506 - 53647901 53665708 - 6480464;8554872 12477932;14574404;14702039;15302408;18719355;23251661;23676014 401265 Q9H511 ABBA01050526;AL157773;AMYH02013749;AMYH02013750;BC137267;BC137269;CH471081;EF633513;NM_001003760;XM_005249107 AAI37268;AAI37270;ABR23528;EAX04428;NP_001003760;Q9H511;XP_005249164 Hs.131064 1706218;1728043 G63292;SHGC-80641 BKLHD6;KBTBD1;KLHL;bA345L23.2 BTB and kelch domain-containing protein 6;OTTHUMP00000016633;kelch repeat and BTB (POZ) domain containing 1;kelch repeat and BTB domain-containing protein 1;kelch-like protein 31;kelch-like protein KLHL APPROVED protein-coding ENSG00000124743 HGNC:21353 13923 610749 VALIDATED 1351992 KLHL41 kelch-like family member 41 INVOLVED IN protein ubiquitination; myofibril assembly (ortholog); regulation of myoblast differentiation (ortholog); ASSOCIATED WITH Cardiomyopathy, Hypertrophic; FOUND IN Cul3-RING ubiquitin ligase complex; cytoplasm; endoplasmic reticulum membrane; INTERACTS WITH cytarabine; dimethyl sulfoxide; methylmercury chloride 2 2 2 q31.1 163985145 164001693 + 170366212 170382772 + 169509702 169526262 + 737633;1580798;1580863;6480464;7240710 11583900;12477932 10713668;12692149;15489334;15983046;16396496;18029348;19424503;20301465;21890473;23676014;24268659;8889549;9655184 10324 O60662;Q3ZTS6 AA194290;ABBA01014890;AC093899;AF056929;AF333387;AK316571;AMYH02005185;AY364252;BC006534;CH471058;NM_006063 AAC13686;AAG52886;AAH06534;AAQ76811;AAY24117;ABM86980;ABW03848;BAG38160;EAX11275;NP_006054;O60662 Hs.50550 1734726;2108179 D2S1514E;KBTBD10_7970 FLJ60989;KBTBD10;Krp1;NEM9 OTTHUMP00000163060;SARCOSIN;kel-like protein 23;kelch repeat and BTB (POZ) domain containing 10;kelch repeat and BTB domain-containing protein 10;kelch-like 41;kelch-like protein 41;kelch-related protein 1;sarcomeric muscle protein APPROVED protein-coding ENSG00000239474 HGNC:16905 07610 607701;615731 VALIDATED 1603871 KLHL35 kelch-like family member 35 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 11 11 11 q13.4 72441187 72449422 - 75133438 75141674 - 75422394 75430629 - 6480464 12477932;14702039;15761153;23676014;24250222 283212 Q6PF15 ABBA01017465;ABBA01017466;AK091109;AL050370;AMYH02025118;AP000744;BC042952;BC057763;BC131539;BC132708;BC132710;BI464945;CH471076;KF510381;NM_001039548 AAH42952;AAH57763;AAI32709;AAI32711;ADR82981;BAC03585;EAW74964;EAW74965;EAW74966;NP_001034637;Q6PF15 Hs.292451 2169707;2182595;5015619;5037552 A005D09;D11S3114;D8S2279;RH35764 26597;DKFZp566C0546;FLJ33790 OTTHUMP00000164943;kelch-like 35;kelch-like protein 35 APPROVED protein-coding ENSG00000149243 HGNC:26597 08747 VALIDATED 1313352 KLHL40 kelch-like family member 40 This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012] 3 3 3 p22.1 42667406 42674333 + 42727011 42733938 + 42685519 42692446 + 6480464 12477932;14702039;15489334;20301465;23676014;23746549;24960163 131377 A8K5H9;Q2TBA0 ABBA01024763;AC006059;AI274020;AI659482;AK056577;AK291294;AK300682;AMYH02006629;AW445105;AY176040;AY177390;BC110491;CH471055;KC876887;NG_033035;NM_152393;XM_005264866 AAI10492;AAO06908;AAO22141;BAB71222;BAF83983;BAG62365;EAW64664;EAW64665;NP_689606;Q2TBA0;XP_005264923 Hs.350288 1849774;2110473 D3S2783E;KBTBD5_8141 FLJ32015;KBTBD5;MGC125350;NEM8;SRYP;SYRP OTTHUMP00000164040;kelch repeat and BTB (POZ) domain containing 5;kelch repeat and BTB domain-containing protein 5;kelch-like 40;kelch-like protein 40;nemaline myopathy type 8;sarcosynapsin APPROVED protein-coding ENSG00000157119 HGNC:30372 11058 615340;615348 VALIDATED 1321228 KLHL32 kelch-like family member 32 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH arsane; arsenic atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 q16.1 98014544 98232272 + 97372496 97588630 + 96924620 97140754 + 1580863;6480464;8554872 11572484;12477932;14702039;16344560;21832049;22939624;23583978;23676014;23718855;23785401 114792 Q5THS9;Q5THT1;Q6IQ08;Q8IXH0;Q96NJ5 AB067487;ABBA01014520;ABBA01014521;ABBA01014522;AF351610;AK055292;AK295479;AK297240;AL023656;AL033375;AL356958;AMYH02014162;AMYH02014163;BC031830;BC047491;BC071627;BI601157;CH471051;DA296671;DC314842;HY334128;NM_001286250;NM_001286251;NM_001286252;NM_001286254;NM_052904;NR_104421;XM_005266812;XM_005266813;XM_005266814;XM_005266815;XM_006715326 AAH71627;AAN76510;BAB67793;BAB70899;BAH12082;BAH12528;EAW48497;EAW48498;EAW48499;EAW48500;NP_001273179;NP_001273180;NP_001273181;NP_001273183;NP_443136;Q96NJ5;XP_005266869;XP_005266870;XP_005266871;XP_005266872;XP_006715389 Hs.45056 1673054;1709160;1710442;2123803;2130429;2148430 D6S2142;RH37442;SHGC-31724;SHGC-82519;SHGC-85742;STS-N40195 BKLHD5;KIAA1900;MGC51280;MGC87753;RP1-39B17.1;UG0030H05;dJ21F7.1 BTB and kelch domain containing 5;BTB and kelch domain-containing protein 5;OTTHUMP00000016883;kelch-like 32;kelch-like protein 32 APPROVED protein-coding ENSG00000186231 HGNC:21221 13898 VALIDATED 6481367 KLHL6-AS1 KLHL6 antisense RNA 1 q27.1 100874019 AC069211;BX091913;NR_046687 APPROVED ncrna HGNC:40850 VALIDATED 1316764 KLHL6 kelch-like family member 6 INVOLVED IN B cell receptor signaling pathway (inferred); germinal center formation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH fonofos; mifepristone; parathion 3 3 3 q27.3 181641698 181709843 - 183205319 183273499 - 183487531 183555711 - 1580863;6480464;8554872 11214971;12477932;12617994;14702039;15342556;15489334;19850743;21906983;22505724;22939624;23676014 89857 Q8WZ60;Q9H7N9 ABBA01058478;AC069211;AC092960;AF441792;AK024439;AK097125;AK314473;AL833667;AMYH02008287;BC032348;BP284594;BX648370;CH471052;NM_130446 AAH32348;AAL35594;ABM85714;ABW03726;BAB15729;BAC04957;BAG37078;EAW78323;EAW78324;EAW78325;EAW78326;NP_569713;Q8WZ60 Hs.659147 1337213;1650365;1715979;1748459;1780028;2107251;5015861;5020948;5037552;5109281;5120437;7185938 B318WE9;D10S16;D1S1425;D3S1521;D8S2279;G35510;GDB:315881;KLHL6__7415;RH122732;SHGC-154287;SHGC-64766 FLJ00029 OTTHUMP00000192902;OTTHUMP00000233274;kelch-like 6;kelch-like protein 6;kelch-like protein KLHL6 APPROVED protein-coding ENSG00000172578 HGNC:18653 10035 614214 VALIDATED 1320120 KLHL5 kelch-like family member 5 ENCODES a protein that exhibits actin binding (inferred); FOUND IN cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; 8-bromo-3',5'-cyclic AMP 4 4 4 p14 39484267 39565622 + 39046308 39127853 + 39044688 39126233 + 1580863;6480464 11590829;12477932;14672410;14702039;15489334;15815621;21145461;21900206;21963094;21988832;23676014;23829686 51088 H0Y9Y5;H0YAF6;Q59HD9;Q7Z6D5;Q96PQ7 AA715102;AB208820;ABBA01004117;AC079921;AF272976;AK001698;AK001836;AK002174;AK002175;AK289785;AL049385;AMYH02009043;AY172948;BC010867;BC048262;BC053860;BC058884;BC081562;BQ438207;BX478676;CH471069;DB451501;DR006899;NM_001007075;NM_001171654;NM_015990;NM_199039;XM_005262654;XM_005262655;XM_005262656 AAH48262;AAH53860;AAH58884;AAH81562;AAI60163;AAL08584;AAO39710;BAA91845;BAA91933;BAA92121;BAD92057;BAF82474;EAW92908;EAW92909;EAW92910;EAW92911;EAW92912;EAW92913;EAW92914;NP_001007076;NP_001165125;NP_057074;NP_950240;Q96PQ7;XP_005262711;XP_005262712;XP_005262713 Hs.272251 1653898;1672250;1675037;1687359;1775557;1790243;1797798;2122607;2172986;2176870;5015621;5015961;5021872;5022578;5037552 D11S3732;D15S1477;D1S1423;D8S2279;KLHL5_2058;RH93229;SGC44694;SHGC-24765;SHGC-44694;SHGC-50250;SHGC-59567;SHGC-67763;SHGC-67904;SW919;sY3084 DKFZp586M1418;FLJ11313 OTTHUMP00000123482;OTTHUMP00000123483;OTTHUMP00000123484;OTTHUMP00000218210;OTTHUMP00000218211;kelch-like protein 5;lymphocyte activation-associated protein APPROVED protein-coding ENSG00000109790 HGNC:6356 10477 608064 VALIDATED 1347061 KLHL9 kelch-like family member 9 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein ubiquitination; PARTICIPATES IN ubiquitin/proteasome degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Cul3-RING ubiquitin ligase complex; midbody; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; 5-fluorouracil 9 9 9 p22 21269331 21273742 - 21331018 21335429 - 21331019 21335430 - 1580863;6480464;6907045;8554872 10718198;12477932;14702039;17113583;17543862;19295130;19615732;19995937;20554658;20574843;21139048;21145461;21890473;21906983;21963094;23455478;23676014;24778252;25036637;9847074 55958 Q58EZ4;Q7Z350;Q9P2J3 AB037775;ABBA01065177;AK022805;AK023630;AK025468;AK091715;AL162420;AL713669;AMYH02019285;AY172949;BC039133;BC052776;BC064958;BC105008;BC113513;BX538121;CH471071;DR978657;NM_018847 AAH39133;AAI05009;AAI13514;AAO39718;BAA92592;BAB14623;BAG52403;CAD28475;CAD98027;EAW58614;NP_061335;Q9P2J3 Hs.701778;Hs.710126;Hs.744736 1851342;2134726;2166485;2167277;5015961;5037552 A002T15;D15S1477;D8S2279;RH11920;RH45983;WI-13834 FLJ21815;RP11-380P16.6 OTTHUMP00000021141;kelch-like 9;kelch-like protein 9 APPROVED protein-coding HGNC:18732 13929 611201 VALIDATED 1348247 KLHL42 kelch-like family member 42 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN proteasome-mediated ubiquitin-dependent protein catabolic process; protein polyubiquitination; regulation of microtubule-based process; FOUND IN Cul3-RING ubiquitin ligase complex; INTERACTS WITH 2-methylcholine; benzo[a]pyrene; melphalan 12 12 12 p11.22 33078741 33101539 + 27933187 27955973 + 27780254 27803040 + 6480464 10718198;12477932;14702039;15489334;16189514;16541075;16713569;19256485;19261606;19295130;19615732;20360068;21139048;21145461;21890473;21906983;21963094;23676014;25011449 57542 B2RNT7;F5H523;H0YGN2;Q9P2K6 AA687307;AB037761;ABBA01068050;ABBA01068051;ABBA01068052;AC009511;AK002197;AK095405;AL118635;AL702640;AMYH02026247;BC028742;BC108669;BC137116;BC137117;BQ218827;BX497104;CA771366;CD521625;CH471094;NM_020782;T83155 AAH28742;AAI08670;AAI37117;AAI37118;ABZ92363;BAA92578;BAG53048;EAW96570;EAW96571;NP_065833;Q9P2K6 Hs.505104 1680020;1686268;1768167;2131141;2137435;2182125 RH44331;RH48843;RH70371;RH80436;RH92079;STS-AA033590 Ctb9;KIAA1340;KLHDC5;MGC131714 OTTHUMP00000240426;cullin-3-binding protein 9;kelch domain containing 5;kelch domain-containing protein 5;kelch-like family, member 42;kelch-like protein 42 APPROVED protein-coding ENSG00000087448 HGNC:29252 17237 VALIDATED 1349866 KLK1 kallikrein 1 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 48373507 48378146 - 51322402 51327043 - 50819146 50823787 - 1581753;1581751;1581752;1641802;1641805;1641800;1641797;1641812;1580863;1641794;1358144;1641806;1641795;1641799;6480464;7240710;7401223 10604522;11849458;12746231;12770935;15086490;15117887;15167446;15809361;15905889;16177542;17015177;17022964;17137568;17272402 10862973;11006094;11016932;11054574;11130770;11258672;11727832;11912256;11913965;12372819;12477932;12492488;12581867;12670744;12887060;1385301;14660481;14988406;15342556;15364809;15489334;15544850;15611141;15651049;15662224;15765151;15855348;16129698;16465461;16800723;16800724;1684954;1691151;16957554;17050061;17158887;17671125;17699431;17761919;17762646;17804733;1783409;18182238;18283336;18327081;18344018;18359858;18402547;18577888;18627303;18689794;18713009;18725990;18844446;19056867;19082699;19232384;19423540;19558318;19578768;19913121;20143645;20225398;20406964;20424135;20438785;20482314;20516044;20533273;20536386;20613781;20628086;21164105;21200088;21211543;21571276;21679467;21823154;23635481;23697984;23765970;23874198;24005896;24530396;24599937;2666327;2686621;2898948;3004571;3163150;3635530;3853975;393608;7492318;7733886;7749372;7749374;7916636;9276160;9368023;9857240 3816 M0R318;P06870 ABBA01068295;ABBA01068296;ABBA01068297;AC010325;AF243527;AF277050;AK293363;AMYH02036364;AY094609;AY429508;AY703451;BC005313;BP323011;BT007253;CA772631;CH471135;L10038;M12706;M25629;M33105;M33109;NG_012094;NM_002257;S77952;X13561;XM_005258900 AAA36135;AAA36136;AAA59201;AAA59455;AAB34120;AAF86333;AAG33353;AAH05313;AAM11874;AAP35917;AAR10467;AAU12569;ABM83998;ABM87327;BAH11493;CAA31912;EAW71912;EAW71913;EAW71914;NP_002248;P06870;XP_005258957 Hs.123107 1685091 RH80224 KLKR;Klk6;hK1 glandular kallikrein 1;kallikrein 1, renal/pancreas/salivary;kallikrein serine protease 1;kallikrein-1;kidney/pancreas/salivary gland kallikrein;tissue kallikrein APPROVED protein-coding ENSG00000167748 HGNC:6357 01003 147910;615953 REVIEWED 1606032 KLK10 kallikrein-related peptidase 10 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 19 19 19 q13 48568045 48575490 - 51516000 51523431 - 51012744 51020175 - 2314845;2314846;2314847;2314848;2314849;2314851;2314850;6480464 11920956;12087468;12788170;16647913;17585892;18766180;19150938 10675891;10969073;11054574;11705853;12185203;12477932;12970725;14696124;14972646;15057824;15489334;16103744;16169070;16254462;16341674;16800723;16800724;16800732;16800735;16800740;16928223;17182177;17937626;18515984;18854834;18855978;19064572;19085836;19383315;19558318;19560453;19760608;20086175;20424135;20680316;20686372;21487810;21988832;22102857;22437349;22874102;23250777;23268413;23499583;24409072;8764136;8889548;9533035;9647736;9809976 5655 M0R132;M0R2S4;O43240 ABBA01068285;ABBA01068286;AC011473;AF024605;AF055481;AF243527;AK292365;AK309456;AMYH02036374;AMYH02036375;AY561634;AY561635;BC002710;BM830577;BU685208;CH471135;CR450327;GN341816;KJ010190;KJ010191;KJ010192;KJ010193;KJ010194;KJ010196;KJ010197;KJ010198;KJ010199;KJ010201;KJ010202;NM_001077500;NM_002776;NM_145888;XM_005259061;XM_005259062;XM_006723287;XM_006723288;XM_006723289 AAB81602;AAC14266;AAG23256;AAG33363;AAH02710;AAS66975;AAS66976;ABM81676;ABM84843;AHK24357;AHK24358;AHK24359;AHK24361;AHK24362;AHK24363;AHK24364;AHK24366;BAF85054;CAG29323;CAY39327;EAW71967;EAW71968;EAW71969;NP_001070968;NP_002767;NP_665895;O43240;XP_005259118;XP_005259119;XP_006723350;XP_006723351;XP_006723352 Hs.275464 2124197;5022200;5022651;5037552 D11S2921;D8S2279;L18426;RH48452 NES1;PRSSL1 breast normal epithelial cell associated serine protease;kallikrein 10;kallikrein 10 protein 1;kallikrein 10 protein 12;kallikrein 10 protein 2;kallikrein 10 protein 3;kallikrein 10 protein 4;kallikrein 10 protein 7;kallikrein 10 protein 8;kallikrein 10 protein 9;kallikrein-10;normal epithelial cell-specific 1;protease serine-like 1;protease, serine-like, 1 APPROVED protein-coding ENSG00000129451 HGNC:6358 04054 602673 REVIEWED 1313665 KLHL7 kelch-like family member 7 This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010] 7 7 7 p15.3 23131633 23201326 + 23145353 23215040 + 23105734 23175421 + 1580863;6480464;7240710;8554872;8699517 11230166;11256614;12477932;12853948;14702039;15489334;16918702;18029348;19520207;20301590;20547956;21139048;21145461;21828050;21890473;21906983;22082156;22084217;22505724;23676014;24250222;24816145;9847074 55975 A8K364;B7Z3P9;B7Z4N7;E5RFN1;H7C259;Q8IXQ5 AA432360;ABBA01056700;AC005082;AC006039;AC073992;AF111113;AK056390;AK290479;AK296219;AK297369;AK297421;AK297595;AK299006;AK302995;AL136597;AMYH02015355;AMYH02015356;AY028802;BC009555;BC039585;BG704835;CH236948;CH471073;DC370850;EF560731;KF458408;NG_016983;NM_001031710;NM_001172428;NM_018846;NR_033328;NR_033329;XM_006715753;XM_006715754;XM_006715755;XM_006715756;XM_006715757 AAF27196;AAH09555;AAH39585;AAK29099;AAO21916;ABQ59041;ACE86550;ACE86588;ACE87231;ACE87822;ACT64372;BAB71175;BAF83168;BAH12285;BAH12563;BAH12577;BAH12623;BAH12925;BAH13872;CAB66532;EAL24261;EAW93770;EAW93771;EAW93772;EAW93773;EAW93774;NP_001026880;NP_001165899;NP_061334;Q8IXQ5;XP_006715816;XP_006715817;XP_006715818;XP_006715819;XP_006715820 Hs.654817 1340676;1668061;1723777;2115565;2141883;2157617;2157619;2219864 A005Y34;D15S130;G20603;KLHL7__6340;RH118626;RH45387;RH46047;SHGC-33150 KLHL6;RP42;SBBI26 OTTHUMP00000202014;OTTHUMP00000202033;OTTHUMP00000202036;kelch-like 6;kelch-like 7;kelch-like protein 7;kelch/BTB APPROVED protein-coding ENSG00000122550 HGNC:15646 13927 611119;612943 REVIEWED 1319630 KLK13 kallikrein-related peptidase 13 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 48611530 48620443 - 51559021 51568367 - 51056206 51065110 - 1580863;2314862;2314865;6480464 12970725;19707197 10675891;10766816;11006094;11054574;11848466;11986781;12477932;12642628;12925213;14687906;15057824;15381110;15489334;16800723;16800724;16847813;17207965;17922479;18627302;19558318;20424135;20678496;21439340;21596022;21689719;21741862;22948777;23371469;24288670 26085 M0R218;Q5BQ95;Q5BQ97;Q86VI7;Q9UKR3 AB108823;AB108824;AB451465;ABBA01068280;ABBA01068281;AC011473;AF135024;AL050220;AMYH02036376;AY923171;AY923172;AY923173;AY923174;AY923175;BC069334;BC069543;CH471135;EU091477;NM_015596 AAD26425;AAG23259;AAH69334;AAH69543;AAX30052;AAX30053;AAX30054;AAX30055;AAX30056;ABU63130;ADQ32940;BAC75825;BAC75826;BAG70279;CAB43320;EAW71979;EAW71980;EAW71981;NP_056411;Q9UKR3 Hs.165296 1683024;2217530 KLK13_3571;RH92090 DKFZp586J1923;KLK-L4;KLKL4 kallikrein 13;kallikrein-13;kallikrein-like gene 4;kallikrein-like protein 4 APPROVED protein-coding HGNC:6361 05693 605505 REVIEWED 5509665 KLHL7-AS1 KLHL7 antisense RNA 1 (head to head) 7 7 p15.3 23140847 23145322 - 23101228 23105703 - 14702039 100775104 ABBA01056700;AC006039;AK054880;AMYH02015355;NR_046220 PLATAK APPROVED ncrna ENSG00000230658 HGNC:43431 VALIDATED 1312275 KLHL8 kelch-like family member 8 INVOLVED IN protein ubiquitination; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; FOUND IN Cul3-RING ubiquitin ligase complex; nucleus; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 4 4 4 q22.1 85371231 85430685 - 88081260 88161466 - 87160108 87220588 - 1580863;6480464 10718198;11076863;11230166;12168954;12477932;15489334;15489336;16381901;16713569;19158078;19322201;19615732;20686565;20800603;21145461;21890473;21906983;22505724;23568457;23676014;24097068;24457600 57563 D6RGH5;Q49A95;Q68DU9;Q7Z330;Q9P2G9 AA878129;AB037799;ABBA01063525;ABBA01063526;ABBA01063527;AC092658;AK128827;AMYH02009667;BC041370;BC041384;BC041901;BX538173;BX640727;BX640744;BX647454;BX648367;CH471057;CN290430;CR749265;HY117925;NM_001292003;NM_001292006;NM_001292007;NM_020803;NR_120447;XM_005263153 AAH41384;AAH41901;BAA92616;BAG54740;CAD98048;CAE45843;CAE45855;CAH18121;CAL38560;EAX05982;EAX05983;EAX05984;NP_001278932;NP_001278935;NP_001278936;NP_065854;Q9P2G9;XP_005263210 Hs.106601 2130980;2140647;2150866;2177495;5016478;5020740;5020948;5022200;5022322;5022578;5024039;5024413 D11S2560;D16S325;D1S1423;G35510;GDB:434012;HSC1NA012;L17809;L17877;L18426;RH18307;RH48469;SHGC-50512 FLJ46304;KIAA1378 OTTHUMP00000161167;OTTHUMP00000219456;OTTHUMP00000219457;OTTHUMP00000219459;kelch-like 8;kelch-like protein 8 APPROVED protein-coding ENSG00000145332 HGNC:18644 13928 611967 VALIDATED 1318610 KLK11 kallikrein-related peptidase 11 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in multiple transcript variants encoding distinct isoforms which are differentially expressed.[provided by RefSeq, Nov 2009] 19 19 19 q13.33 48577546 48583349 - 51525487 51531290 - 51022231 51028034 - 6480464;8554872 10662548;10872828;11054574;11550212;11782391;12477932;12539228;12736044;12845660;12975309;15057824;15102682;15329323;15489334;15893744;16502470;16800723;16800724;16800740;16911518;17207965;18515984;19184568;19190824;19242826;19383315;19560453;20424135;21520985;21618246;22429520;23602830;23639975;23647300;24169449;24288670;9765601 11012 M0QYW4;M0QZI8;M0QZV0;M0R151;Q9UBX7 AB012917;AB013730;AB041036;AB078780;AB259014;AB261897;ABBA01068284;AC011473;AF164623;AF243527;AK308207;AMYH02036375;AY359014;BC015551;BC022068;BG697071;CH471135;NM_001136032;NM_001167605;NM_006853;NM_144947;XM_005258439 AAD47815;AAG23257;AAG33364;AAH22068;AAQ89373;ADQ31834;BAA33404;BAA88713;BAA96797;BAC54105;BAE95335;BAF02733;EAW71970;EAW71971;EAW71972;NP_001129504;NP_001161077;NP_006844;NP_659196;Q9UBX7;XP_005258496 Hs.57771 1698768;2108193;2174348;2217528;5022200 KLK11_3539;KLK12_8032;L18426;RH102947;SHGC-57422 MGC33060;PRSS20;TLSP;hK11 hippostasin;kallikrein 11;kallikrein-11;protease, serine, 20 trypsin-like;protease, serine, trypsin-like;serine protease 20;trypsin-like protease APPROVED protein-coding ENSG00000167757 HGNC:6359 05114 604434 REVIEWED 1353266 KLK4 kallikrein-related peptidase 4 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Alternate splice variants for this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.41 48460680 48464998 - 51409608 51413994 - 50906352 50910738 - 1580863;2314853;2314856;2314857;2314852;2314854;6480464;7240710;8699517;8554872 12370833;15262123;17545602;18687310;19190825 10077646;10438493;10485467;10575207;10863090;11054574;11124349;11258672;11327827;11506707;11735417;12077288;12477932;15057824;15059887;15235027;15489334;15862967;16172196;16322328;16497155;16704423;16800723;16800724;16800736;17207965;17221837;18221492;18308730;18567807;18714142;19372141;19423540;19795418;19966041;20009893;20056842;20180634;20406964;20406994;20424135;20438785;20460480;21874303;22970239;23201139;23251661;23355523;23798432;23867815;23936387;24405067;9465170 9622 M0QYN5;Q5BQA0;Q9Y5K2 ABBA01068294;AC011483;AF113140;AF113141;AF126401;AF135023;AF148532;AF228497;AF243527;AF259964;AF259965;AF259966;AF259967;AF259968;AF259969;AF259970;AF259971;AF464755;AMYH02036370;AY923170;BC069325;BC069403;BC069429;BC069489;BC096175;BC096176;BC096177;BC096178;CH471135;KF459582;NG_012154;NM_004917;XM_005259441 AAD21580;AAD21581;AAD26424;AAD38019;AAF70620;AAF81227;AAG33357;AAG43246;AAH69325;AAH69403;AAH69429;AAH69489;AAH96175;AAH96176;AAH96177;AAH96178;AAK71700;AAK71701;AAK71702;AAK71703;AAK71704;AAK71705;AAK71706;AAL14780;AAL14781;AAL14782;AAQ04828;AAX30051;ADQ32870;EAW71943;EAW71944;EAW71945;NP_004908;Q9Y5K2;XP_005259498 Hs.218366 1792726 PMC15904P1 AI2A1;ARM1;EMSP;EMSP1;KLK-L1;MGC116827;MGC116828;PRSS17;PSTS androgen-regulated message 1;enamel matrix serine protease 1;enamel matrix serine proteinase 1;kallikrein;kallikrein-4;kallikrein-like protein 1;prostase;serine protease 17 APPROVED protein-coding ENSG00000167749 HGNC:6365 04793 204700;603767 REVIEWED 1322213 KLK15 kallikrein-related peptidase 15 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In prostate cancer, this gene has increased expression, which indicates its possible use as a diagnostic or prognostic marker for prostate cancer. The gene contains multiple polyadenylation sites and alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 19 19 19 q13.41 48379647 48385881 - 51328545 51334779 - 50825289 50833549 - 6480464 10675891;11006094;11010966;11054574;11327827;11901813;12439720;12477932;12915603;14759258;15489334;16800723;16800724;17207965;19423540;19819870;19823874;19902474;19913121;20067463;20406964;20424135;20438785;20460480;20473923;20628086;21457553;22132073;22505514;23391636;23620432;23936387;8018728 55554 M0QX22;M0R0D7;M0R2F7;Q6UBM2;Q96RQ0;Q9H2R5 ABBA01068295;AC010325;AF242195;AF243527;AF303046;AMYH02036364;AMYH02036365;AW205420;AY373373;AY373374;BC069480;BC069507;BC069518;BC126137;BC144045;BC144046;BC144047;CH471135;NG_029894;NM_001277081;NM_001277082;NM_017509;NR_102274;X75363;XM_006723265 AAG09469;AAG09470;AAG09471;AAG09472;AAG33354;AAH69480;AAH69507;AAH69518;AAI26138;AAI44047;AAK62813;AAQ82620;AAQ82621;ADQ32882;ADR82887;CAA53145;EAW71915;EAW71916;EAW71917;EAW71918;EAW71919;EAW71920;EAW71921;NP_001264010;NP_001264011;NP_059979;Q9H2R5;XP_006723328 Hs.567535 ACO;HSRNASPH ACO protease;kallikrein 15;kallikrein-15;kallikrein-like serine protease;prostinogen APPROVED protein-coding ENSG00000174562 HGNC:20453 07490 610601 REVIEWED 1320514 KLK5 kallikrein-related peptidase 5 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its expression is up-regulated by estrogens and progestins. The encoded protein is secreted and may be involved in desquamation in the epidermis. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 48496882 48506677 - 51446559 51456344 - 50943303 50953088 - 1580863;6480464 10514489;10608802;10652563;10675891;10969073;11054574;11237385;11948967;12385949;12477932;12738725;12890555;12975309;15140227;15489334;15654974;15675955;15713679;15766562;16517595;16628198;16800723;16885167;17012259;17158887;17459052;17625593;17881000;18163887;18221492;19085836;19118981;19190824;19194479;19383346;19453546;19558318;19560453;19820362;20090765;20424135;21139048;21163944;21273346;21741862;21868565;22102857;22505519;23612974;23629652;24534191;8125298 25818 M0QXX2;Q9Y337 ABBA01068291;ABBA01068292;AC011483;AF135028;AF168768;AF243527;AF435980;AF435981;AK223421;AMYH02036370;AY279380;AY279381;AY359010;AY461805;BC008036;BT006867;CH471135;KC877754;NM_001077491;NM_001077492;NM_012427 AAD26429;AAF03101;AAG33358;AAH08036;AAN63606;AAN63607;AAP35513;AAP42275;AAP42276;AAQ89369;AAR23814;ABM81603;ABM84784;BAD97141;EAW71946;EAW71947;EAW71948;EAW71949;EAW71950;EAW71951;EAW71952;NP_001070959;NP_001070960;NP_036559;Q9Y337 Hs.50915 1773509;2217532 KLK5_3564;SHGC-56840 KLK-L2;KLKL2;SCTE kallikrein 5;kallikrein-5;kallikrein-like protein 2;stratum corneum tryptic enzyme APPROVED protein-coding ENSG00000167754 HGNC:6366 05732 605643 REVIEWED 1319061 KLK12 kallikrein-related peptidase 12 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 48584407 48590207 - 51532348 51538486 - 51029092 51035230 - 6480464;8554872 10652563;10675891;10969073;11006094;11054574;11056051;12477932;12975309;15057824;15300858;16800723;16800724;17391064;18976975;20424135;21439340;21628462;21741862;22351561;23152405;23236234;23612974 43849 E9PPC6;E9PR22;Q49AM7;Q9UKR0 ABBA01068284;AC011473;AF135025;AF243527;AMYH02036375;AY358524;BC035385;BC136341;BC143988;BC143990;BC143991;BX648580;CH471135;NM_019598;NM_145894;NM_145895;XM_005258950;XM_005258951 AAD26426;AAF06065;AAF06066;AAG23258;AAG33365;AAH35385;AAI36342;AAQ88888;EAW71973;EAW71974;EAW71975;EAW71976;EAW71977;EAW71978;NP_062544;NP_665901;NP_665902;Q9UKR0;XP_005259007;XP_005259008 Hs.411572 2108193 KLK12_8032 DKFZp686H1078;KLK-L5;KLKL5;MGC42603 OTTHUMP00000231022;OTTHUMP00000231025;OTTHUMP00000238046;kallikrein 12;kallikrein-12;kallikrein-like protein 5 APPROVED protein-coding ENSG00000186474 HGNC:6360 05705 605539 REVIEWED 1343198 KLK3 kallikrein-related peptidase 3 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its protein product is a protease present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. Serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 19 q13.41 48409273 48415128 + 51358171 51364020 + 50854915 50860764 + 1580863;2301715;6480464;6484113;6907045;7240710 10069662 10218588;10374881;10511594;10604721;10646852;10675891;10759471;10969073;11017939;11027412;11054574;11299734;11317942;11327827;11342264;11391681;11502200;11735417;11784334;11834722;11839651;11909978;12032296;12111704;12124798;12168876;12209605;12210484;12362977;12376473;12398228;12477932;12496487;12589022;12626390;12782640;12865450;12949939;12970732;12970746;1383255;14584757;14607215;14627807;14643026;14693733;14696124;14718574;14761877;15014041;15017213;15050736;15174051;15203212;15233555;15340161;15350307;15389580;15489334;15531881;15542435;15543614;15563730;15599941;15680901;15829968;15893813;15936010;16004602;16091872;16152616;16172196;16172228;16247489;16302261;16365023;16398402;16424004;16425097;16472761;16581345;16675575;16699296;16708371;16741919;16774685;16775173;16800723;16800724;16859836;16934957;1702714;17094454;17151093;1725227;17257635;17387315;17394194;17426252;17440964;17507624;17593395;17635240;17641982;17657743;17718721;17721190;17721809;17894328;17961073;17987534;18029348;18061650;18187150;18202763;18222179;18245536;18264097;18306354;18336535;18356135;18402773;18427570;18431597;18440312;18446367;18491956;18495332;18500692;18515984;18516323;18535354;18619642;18627292;18627304;18645024;18645681;18722876;18768516;18794092;18827812;18977589;19003994;19032406;19095061;19107370;19108411;19109947;19116992;19126541;19152248;19155468;19159616;19250630;19318432;19375843;19380444;19399601;19414393;19434652;19434657;19440011;19440014;19440015;19450995;19489685;19542190;19558318;19659608;19682790;19690023;19705489;19729499;19823874;19855435;19902474;19913121;19937596;20086117;20099974;20180647;20189847;20215802;20218317;20228531;20299777;20424135;20432434;20435461;20460480;20558981;20564319;20606402;20616526;20628086;20632874;20673345;20726802;20800603;20863373;20933321;20947244;20948186;20962505;21056970;21071540;21160077;21189143;21189374;21212412;21278686;21318478;21333366;21421545;21422628;21465221;21482022;21542994;21584487;21600799;21600800;21652145;21661042;21731703;21787114;21791361;21826098;21843902;21858228;21862205;21889270;21934292;21956655;21982682;22019475;22037582;22082156;22103356;22196747;22199313;22209970;22232548;22239030;22325447;22403723;22433834;22528335;22549899;22597536;22627168;22653589;22687565;22705054;22796946;22877366;22901566;22921964;23040885;23103147;23169475;23235975;23246478;23269536;23315126;23345509;23353717;23398767;23544270;23555189;23683475;23684783;23690220;23818154;23842001;23859334;23906321;23936387;23954085;23991415;23998723;24043138;24063616;24210911;2422647;24270797;24288670;24292502;24344022;24344023;2436946;24548953;2456523;2458104;2466464;2467258;2470373;2470553;24711254;2471958;2472789;24747988;24814705;24851609;24854630;24929427;24962004;25043157;25043536;3691515;7509746;7521173;7527295;7535613;7538844;7539415;8583572;8665956;8683730;8732755;8753751;8843739;8849579;9016396;9062481;9092810;9146608;9261179;9751643;9857240 354 M0QX57;M0QZF9;M0R1F0;M0R1Z7;M0R294;P07288;Q546G3;Q8WTQ8 ABBA01068295;AC011523;AF243527;AF335477;AF335478;AJ310937;AJ310938;AJ459782;AJ459783;AJ459784;AJ512346;AK312933;AMYH02036367;AX772834;BC005307;BC050595;BC056665;BF679511;BQ932072;BT019862;CH471135;DQ641251;M21895;M21896;M21897;M24543;M26663;M27274;NG_011653;NM_001030047;NM_001030048;NM_001648;S75755;U17040;X05332;X07730;X13940;X13941;X13942;X13943;X13944;X14810;X75682;XM_006723195;XM_006723196 AAA56764;AAA58802;AAA59995;AAA59996;AAA59997;AAA60192;AAA60193;AAD14185;AAG33355;AAH05307;AAH50595;AAH56665;AAL73204;AAL73205;AAV38665;ABM81596;ABM84777;BAG35776;CAA28947;CAA32123;CAA32124;CAA32126;CAA32127;CAA32915;CAB46487;CAC41631;CAC41632;CAD30844;CAD30845;CAD30846;CAD54617;CAE06266;EAW71922;EAW71923;EAW71924;EAW71925;EAW71926;EAW71927;EAW71928;EAW71929;EAW71930;EAW71931;EAW71932;EAW71933;EAW71934;EAW71935;EAW71936;NP_001025218;NP_001025219;NP_001639;P07288;XP_006723258;XP_006723259 Hs.171995 1669903;1793558;1793562;1793784;1793788;2125087;2183990;2218558;2220252 D19S1013;KLK3;KLK3_4329;PMC230325P1;PMC230325P3;PMC290276P2;PMC290276P4;RH17676;RH70617 APS;KLK2A1;PSA;hK3 P-30 antigen;gamma-seminoprotein;kallikrein 3, (prostate specific antigen);kallikrein-3;prostate specific antigen;prostate-specific antigen;semenogelase;seminin APPROVED protein-coding ENSG00000142515 HGNC:6364 01461 176820;612423 REVIEWED 1318477 KLK14 kallikrein-related peptidase 14 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. An additional transcript variant has been described but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.3-q13.4 48633233 48639581 - 51581154 51587502 - 51077357 51084245 - 1580863;6480464 10969073;11309303;11352573;12439719;12477932;12858357;15057824;15654974;15843175;16434994;16800723;16800724;16800737;16885167;17110383;17158887;17625593;17922479;18056261;18482984;18497543;18627302;19147544;19383315;19558318;20155713;20424135;21057706;22505522;22505523;22505524;23224034 43847 Q9P0G3 ABBA01068280;AC011473;AF161221;AF283669;AF283670;AMYH02036376;BC074904;BC074905;BC114614;CH471135;EU091477;NM_022046;XM_006723224;XM_006723225 AAD50773;AAG23260;AAH74904;AAH74905;AAI14615;AAK48523;AAK48524;ABU63131;EAW71982;EAW71983;NP_071329;Q9P0G3;XP_006723287;XP_006723288 Hs.283925 KLK-L6;hK14 OTTHUMP00000184888;OTTHUMP00000184889;kallikrein 14;kallikrein-14;kallikrein-like protein 6 APPROVED protein-coding ENSG00000129437 HGNC:6362 05844 606135 VALIDATED 1315024 KLK7 kallikrein-related peptidase 7 This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. [provided by RefSeq, May 2011] 19 19 19 q13.41 48531233 48539211 - 51479735 51487320 - 50976479 50984064 - 6480464 10974542;11054574;12477932;12738725;14691584;14972646;15140227;15191543;15297163;15489334;15675955;15766562;16344560;16628198;16800723;16800724;17012259;17275179;17909180;17989887;18163887;18325919;18329042;18343220;18774391;18953252;18976018;19085836;19091121;19118981;19350120;19423540;19453546;19558318;19921697;20090765;20332224;20406964;20424135;20438785;20544292;20665732;20944116;21139048;21168996;21520985;21548205;21616098;21832049;21868565;22118674;22521249;22573795;22825846;23224034;23495698;7794273;8034709;8393902;8889549 5650 B4DHX9;M0QYU8;P49862 A42048;AA101043;ABBA01068286;AC011483;AF166330;AF243527;AF332583;AF411214;AF411215;AI049783;AK289660;AK295313;AMYH02036373;AY601109;AY646152;BC032005;CH471135;CQ785390;DA243628;DA307925;DQ018784;KF963189;KF963190;KF963191;KF963192;L33404;NM_001207053;NM_001243126;NM_005046;NM_139277 AAC37551;AAD49718;AAG33360;AAH32005;AAK69624;AAN03662;AAN03663;AAT66047;AAU04540;AAY97797;ABM81672;ABM84842;AHN52223;AHN52224;BAF82349;BAG58291;CAA02644;CAG17626;EAW71958;EAW71959;EAW71960;EAW71961;NP_001193982;NP_001230055;NP_005037;NP_644806;P49862 Hs.151254 1852416;2107253 D19S1082;KLK7_7860 PRSS6;SCCE;hK7;hSCCE kallikrein 7 (chymotryptic, stratum corneum);kallikrein-7;protease, serine, 6;serine protease 6;signal protein;stratum corneum chymotryptic enzyme APPROVED protein-coding ENSG00000169035 HGNC:6368 05115 604438 REVIEWED 1602787 KLKP1 kallikrein pseudogene 1 FOUND IN cytoplasm (inferred); nucleus (inferred) 19 19 19 q13.41 48436426 48450726 - 51385352 51399654 - 50882096 50896398 - 15498522;16541416;18196551;20103546;23359319;23936387 606293 Q107X0 ABBA01068295;AC011483;AC037199;AF355199;AF464754;AMYH02036367;AMYH02036368;AY302756;AY533562;DQ086829;DQ086830;DQ211698;KC877755;NR_002948 AAQ04827;AAQ15170;AAZ78651;AAZ78652;Q107X0 Hs.643424 KLK31P;KRSP1;PsiKLK1;YKLK1 KARMA pseudo ENSG00000197588 HGNC:21260 PROVISIONAL 1317964 KLK9 kallikrein-related peptidase 9 The protein encoded by this gene is a kallikrein-related serine protease. This gene is activated by steroid hormones in a human breast cancer cell line, making it a good marker for cancer detection. The encoded protein is found primarily in the cytoplasm.[provided by RefSeq, Oct 2010] 19 19 19 q13.41 48557813 48564935 - 51505769 51512890 - 51002513 51009634 - 1580863;6480464 10652563;10783266;11054574;11691797;12477932;15057824;16800723;16800724;20424135;21832049 284366 Q2XQG6;Q6QA55;Q9UKQ9 ABBA01068286;AC011473;AF135026;AF243527;AMYH02036373;AMYH02036374;AY551001;CH471135;CS300780;NG_027832;NM_012315 AAD26427;AAG22845;AAG23255;AAG33362;AAI40230;AAI41614;AAI72590;AAS55655;CAK32444;EAW71965;EAW71966;NP_036447;Q9UKQ9 Hs.448942 2217534 KLK9_3646 KLK-L3;KLK8;KLKL3;MGC50513 kallikrein 9;kallikrein-9;kallikrein-like protein 3 APPROVED protein-coding ENSG00000269741 HGNC:6370 05692 605504 REVIEWED 1346385 KLK2 kallikrein-related peptidase 2 This gene encodes a member of the grandular kallikrein protein family. Kallikreins are a subgroup of serine proteases that are clustered on chromosome 19. Members of this family are involved in a diverse array of biological functions. The protein encoded by this gene is a highly active trypsin-like serine protease that selectively cleaves at arginine residues. This protein is primarily expressed in prostatic tissue and is responsible for cleaving pro-prostate-specific antigen into its enzymatically active form. This gene is highly expressed in prostate tumor cells and may be a prognostic maker for prostate cancer risk. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Jan 2012] 19 19 19 q13.41 48427763 48434897 + 51376689 51383823 + 50873433 50880567 + 1580863;6480464;8554872 10197620;10209959;10386814;10391209;10411640;10463585;10544017;10773882;10969073;10991942;11054574;11130770;11358513;11745444;11834722;12124798;12209605;12477932;12805332;14759258;15057824;15203212;15489334;15542435;15643194;16152616;16344560;16388506;16800723;16800724;17085659;17257635;1726490;17593395;17657743;1783409;18451133;18567807;19003994;19223501;19318432;19372141;19423540;19434652;19558318;19823874;19902474;19913121;20406964;20424135;20438785;20460480;20620409;20628086;21071540;21178268;21832049;22435954;23359319;23555189;23683475;23936387;24122203;24270797;24457600;2468530;24711254;2824146;9016396;9042371;9368023;9428387;9759557 3817 B4DU77;M0QXQ7;M0R0M2;M0R0M4;M0R1T3;M0R2W5;P20151;Q6T774 ABBA01068295;AC037199;AF188745;AF188746;AF188747;AF243527;AF336106;AK300527;AK300549;AK300566;AK309968;AK309969;AK309973;AK309982;AK309985;AK315890;AMYH02036367;AY429509;AY429510;BC005196;BT006650;BX641830;CH471135;DA865689;M18157;NG_031984;NM_001002231;NM_001256080;NM_005551;NR_045762;NR_045763;S39329;XM_006723206;XM_006723207;XM_006723208;XM_006723209 AAA74454;AAD13816;AAD13817;AAF08275;AAF08276;AAF08277;AAG33356;AAH05196;AAL73209;AAP35296;AAR10468;AAR10469;ABM81598;ABM84779;BAF98781;BAG62239;BAG62255;BAG62272;EAW71937;EAW71938;EAW71939;EAW71940;EAW71941;EAW71942;NP_001002231;NP_001243009;NP_005542;P20151;XP_006723269;XP_006723270;XP_006723271;XP_006723272 Hs.515560 2125075;2183457 RH71453;STS-S39329 FLJ17010;FLJ17011;KLK2A2;MGC12201;hGK-1;hK2 glandular kallikrein 2;glandular kallikrein-1;kallikrein 2, prostatic;kallikrein-2;tissue kallikrein-2 APPROVED protein-coding ENSG00000167751 HGNC:6363 01006 147960 REVIEWED 5013846 KLLN killin, p53-regulated DNA replication inhibitor The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by RefSeq, Dec 2012] 10 10 10 q23 83365399 83369675 - 89618918 89623194 - 87859161 87863437 - 6480464;8554872 15146197;18385383;21177507;21584899;21956414;22580995;23386643;23418309;23446638 100144748 B2CW77 ABBA01021960;AC063965;AMYH02023500;EU552092;NG_007466;NG_033079;NM_001126049 ACB45456;B2CW77;NP_001119521 Hs.559820 1699140;1789116;1853828;2162662;5022578;5022651 D11S2921;D1S1423;G65727;RH103146;STS-AA021529;WI-18385 CWS4 killin protein-coding ENSG00000227268 HGNC:37212 612105;615107 REVIEWED 1345877 KLRAP1 killer cell lectin-like receptor subfamily A pseudogene 1 ASSOCIATED WITH Melanoma (inferred) 12 12 12 p13.2 15889435 15900790 - 10741077 10752434 - 10588478 10599835 - 1580863;6480464;8554872 10369937;10457220;10783260;12077248;12477932;15146197;16132082;16344560;16492762;17207965;18426793;19929986;20237496;20379614;21335486;21632721;24802191;9645365;9830044 10748 Q9UNG0 ABBA01067806;AC021049;AF047445;AF126037;AK290077;AK296103;AK304677;AK310151;AMYH02026029;AY334570;BC069672;BC069697;BC069734;BC101471;BC101473;BX950927;CH471094;CN269037;DA776936;NR_028045 AAC35898;AAD44160;AAH69672;AAH69697;AAH69734;AAI01472;AAI01474;AAP94733;ADQ32950;BAF82766;BAG58854;BAG65449;EAW96193;EAW96194;EAW96195 Hs.159297 5022651 D11S2921 KLRA#;KLRA1;LY49L;Ly-49L;Ly49;MGC126520;MGC126522 APPROVED pseudo HGNC:6372 09180 604274 VALIDATED 736738 KLK6 kallikrein-related peptidase 6 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. The encoded enzyme is regulated by steroid hormones. In tissue culture, the enzyme has been found to generate amyloidogenic fragments from the amyloid precursor protein, suggesting a potential for involvement in Alzheimer's disease. Multiple alternatively spliced transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 48512220 48523480 - 51461887 51472929 - 50958631 50969673 - 1358599;1358604;1358596;1580863;1358597;2314866;2314855;2314863;2314864;2314865;2314867;6480464 11802715;12023317;12074831;12480753;12928483;12970725;16340244;16987227;17303231;18992199 10610719;11054574;11668196;11983703;12016211;12232761;12477932;12589961;12709365;12878203;14696124;15207701;15255184;15489334;15557757;15584920;15627893;15837738;15867230;16203767;16321973;16341674;16502470;16800723;16800724;16800739;16885167;17158887;18359858;18627290;18854834;18957059;19088065;19383923;19423540;19426157;19558318;19560453;19707197;19950700;20403393;20406964;20424135;20438785;20680316;20836755;20846516;21193224;21464892;21656738;21741862;21753781;22102857;22285222;22373580;22477710;22505518;22505521;22508489;22699826;22874102;23049835;23136250;23308173;24430362;8898378;9003450;9312124 5653 E7ETY0;M0QYA5;Q92876 ABBA01068287;ABBA01068288;ABBA01068289;ABBA01068290;AC011483;AF013988;AF149289;AF243527;AK314897;AMYH02036371;AMYH02036372;AMYH02036373;AY279383;AY318867;AY318868;AY318869;AY318870;AY457039;BC015525;BM763657;BT006852;CH471135;D78203;DQ223012;GN341818;NG_011825;NM_001012964;NM_001012965;NM_002774;U62801 AAB07113;AAB66483;AAD51475;AAG33359;AAH15525;AAP35498;AAP82446;AAP82448;AAR23148;ABB04464;ABM84474;ABM84771;BAA11306;BAG37411;CAY39328;EAW71953;EAW71954;EAW71955;EAW71956;EAW71957;NP_001012982;NP_001012983;NP_002765;Q92876 Hs.79361 1695988;1851815;2110479 KLK6_3416;SHGC-82735;WI-20869 Bssp;Klk7;MGC9355;PRSS18;PRSS9;SP59;hK6;zyme kallikrein 6;kallikrein-6;neurosin;protease M;serine protease 18;serine protease 9 APPROVED protein-coding ENSG00000167755 HGNC:6367 04037 602652 REVIEWED 1343225 KLRB1 killer cell lectin-like receptor subfamily B, member 1 Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008] 12 12 12 p13 14909231 14921909 - 9747870 9760497 - 9595274 9607901 - 1580863;6480464;6907045 10229828;10458753;12100027;12477932;12858173;14987913;14990792;15489334;16339512;16339513;16455998;16925668;18159636;18219672;18453569;18550855;18663128;19273624;19506219;19711124;19834503;20133607;20237496;20359956;20486123;20800424;21570678;21572041;21610746;21909091;21930700;22833233;23355538;23599932;24392804;8077657;8647203;9218532;9341779;9394825;9603467 3820 Q12918 ABBA01067793;AC006432;AK292022;AMYH02026017;BC027885;BC113997;BC114516;BF432813;CH471094;NM_002258;U11276 AAA21605;AAI13998;AAI14517;BAF84711;EAW96108;NP_002249;Q12918 Hs.169824 1665923 WI-14040 CD161;CLEC5B;MGC138614;NKR;NKR-P1;NKR-P1A;NKRP1A;hNKR-P1A C-type lectin domain family 5 member B;OTTHUMP00000239069;killer cell lectin-like receptor subfamily B member 1;natural killer cell surface protein P1A APPROVED protein-coding HGNC:6373 04201 602890 REVIEWED 1314360 KLK8 kallikrein-related peptidase 8 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in tandem in a gene cluster on chromosome 19. The encoded protein may be involved in proteolytic cascade in the skin and may serve as a biomarker for ovarian cancer. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 19 19 19 q13 48551304 48557002 - 51499264 51504958 - 50996008 51001702 - 6480464 10102990;10485494;10969073;11054574;11309326;12477932;12975309;14749636;15057824;15138549;15282331;16337200;16341674;16800723;16800724;16800733;17178872;17207965;17487847;17761692;18354391;19085836;19125171;19194479;19558318;20360129;20424135;20614312;20940292;21988832;22505524;24614639;7566098;9714609 11202 M0R231;M0R390;O60259 AA320217;AA587273;AB008390;AB008927;AB009849;AB010780;AB012761;ABBA01068286;AC011473;AC011483;AF095742;AF095743;AF243527;AF251125;AMYH02036373;AY359036;AY563055;AY563056;AY563057;AY563058;AY563059;AY563060;AY563061;AY563062;AY563063;AY563064;AY563065;AY563066;AY563067;BC040887;BM845575;CH471135;EU350538;EU350539;NM_001281431;NM_007196;NM_144505;NM_144506;NM_144507;NR_104008 AAD25979;AAD29574;AAF79144;AAF79145;AAG23254;AAG33361;AAQ89395;AAT76913;AAT76914;AAT76915;AAT76916;AAT76917;AAT76918;AAT76919;AAT76920;AAT76921;AAT76922;AAT76923;AAT76924;AAT76925;AAT76926;AAT76927;AAT76928;AAT76929;AAT76930;AAT76931;AAT76932;AAT76933;AAT76934;AAT76935;AAT76936;AAT76937;AAT76938;ACB05869;ACB05870;ADQ33103;BAA28673;BAA28676;BAA82665;BAA82666;BAA88684;EAW71962;EAW71963;EAW71964;NP_001268360;NP_009127;NP_653088;NP_653089;NP_653090;O60259 Hs.104570 2217534 KLK9_3646 HNP;NP;NRPN;PRSS19;TADG14;hK8 KLK8 protein type 1;KLK8 protein type 2;kallikrein 8 (neuropsin/ovasin);kallikrein-8;neuropsin type 1;neuropsin type 2;ovasin;serine protease 19;serine protease TADG-14;tumor-associated differentially expressed gene 14 protein APPROVED protein-coding ENSG00000129455 HGNC:6369 05733 605644 REVIEWED 1349370 KLRC2 killer cell lectin-like receptor subfamily C, member 2 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 p13 15745049 15750188 - 10583198 10588780 - 10430599 10435993 - 1580863;6480464;6907045 10320637;10894168;11751968;12477932;12618865;14688071;15489334;15550116;15940674;17767552;18700876;18976975;19032228;19395088;19694640;2007850;20132973;20379614;20952657;21554925;21988832;22074011;22965785;23396942;23637420;23911737;23918974;24030638;24740502;8436421;8943374;9103421;9486650;9598306;9655483;9683661 3822 F5H518;H0YFK4;H0YGY2;J3KPJ4;P26717 AC068775;AF260134;AJ001684;AK295525;AMYH02026027;BC093644;BC106069;BC112039;NM_002260;X54869;Y13055 AAF86972;AAH93644;AAI06070;AAI12040;BAG58438;CAA04922;CAA38651;CAA73498;NP_002251;P26717 Hs.591157 1650415;1797800;2217536 KLRC1_2531;KLRC2_1688;SGC35438 CD159c;MGC138244;NKG2-C;NKG2C CD159 antigen-like family member C;NK cell receptor C;NKG2-C type II integral membrane protein;NKG2-C-activating NK receptor;OTTHUMP00000238966;OTTHUMP00000238967 APPROVED protein-coding ENSG00000205809 HGNC:6375 04202 602891 REVIEWED 1346640 KLRC3 killer cell lectin-like receptor subfamily C, member 3 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 12 12 12 p13 15726778 15735055 - 10564914 10573194 - 10412315 10420595 - 1580863;6480464;6907045;8554872 10201920;11751968;24177169;24935923;8276468;8943374;9598306;9683661 3823 J3KPJ5;Q07444 ABBA01067805;AC022075;AC068775;AF027164;AF078550;AF350016;AF350017;AF461157;AJ001685;AMYH02026027;CH471094;L14542;NG_029682;NM_002261;NM_007333 AAA16833;AAC17490;AAD46108;AAI60065;AAK83803;AAK83804;AAL65232;CAA04923;EAW96184;EAW96185;EAW96186;NP_002252;NP_031359;Q07444 Hs.654362 1729139;1851785;2154607 D12S1967;G63927;STS-L14542 NKG2-E;NKG2E NK cell receptor E;NKG2-E type II integral membrane protein;NKG2-E-activating NK receptor;OTTHUMP00000235359;OTTHUMP00000235362 APPROVED protein-coding ENSG00000205810 HGNC:6376 04203 602892 REVIEWED 736915 KLKB1 kallikrein B, plasma (Fletcher factor) 1 Plasma prekallikrein is a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. It is synthesized in the liver and secreted into the blood as a single polypeptide chain. Plasma prekallikrein is converted to plasma kallikrein by factor XIIa by the cleavage of an internal Arg-Ile bond. Plasma kallikrein therefore is composed of a heavy chain and a light chain held together by a disulphide bond. The heavy chain originates from the amino-terminal end of the zymogen and contains 4 tandem repeats of 90 or 91 amino acids. Each repeat harbors a novel structure called the apple domain. The heavy chain is required for the surface-dependent pro-coagulant activity of plasma kallikrein. The light chain contains the active site or catalytic domain of the enzyme and is homologous to the trypsin family of serine proteases. Plasma prekallikrein deficiency causes a prolonged activated partial thromboplastin time in patients. [provided by RefSeq, Jul 2008] 4 4 4 q35 184471184 184503982 + 187148502 187179625 + 186227352 186258473 + 1580863;6480464;6907045;7240710;7297047;7327139;7297050;7327150;7327151;7297048;7401223;7401224;7327138;7327152;8554872;8699517 12716755;14986822;16177542;18396440;19307730;2173275;22352684;22739815;8625762;9783057 10068459;10226805;10464316;10543447;10604527;10962009;11031105;11383556;11434682;11864713;12372819;12477932;12754519;12887060;12944405;1466300;14718574;15146197;15489334;16199530;16335952;17318641;17696780;17922805;18029348;18160576;18413232;18713009;19342086;19372141;19423540;19583818;19620246;1993180;1998666;20135073;20339536;20406964;20438785;20725119;21886157;22286219;22916037;23251661;23381795;23672780;2510163;2551064;2844223;291905;3521732;3636155;500690;694428;7686159;7944388;8025275;8226803;8280154;8555184;8761966;89876;9535413 3818 C9IYG8;C9J075;C9JCT1;E9PBC5;H0YAC1;P03952 ABBA01070554;ABBA01070555;AC110771;AF232734;AF232735;AF232736;AF232737;AF232738;AF232739;AF232740;AF232741;AF232742;AK292624;AK297672;AK313378;AMYH02010675;AMYH02010676;AW182528;AY190920;BC117349;BC117351;BC143911;CH471056;CN265612;G41320;M13143;NG_012095;NM_000892;XM_005262987;XM_006714213 AAA60153;AAF79940;AAI17350;AAI17352;AAN84794;AAY40900;ADR83088;BAF85313;BAG36176;BAG60034;EAX04622;EAX04623;NP_000883;P03952;XP_005263044;XP_006714276 Hs.237642 1647258;1688530;1776314;1784986;2119389 D4S3127;D4S3236;SHGC-112359;SHGC4-1080;STS-M13143 KLK3;PPK Fletcher factor;OTTHUMP00000197124;OTTHUMP00000218135;OTTHUMP00000218136;kininogenin;plasma kallikrein;plasma kallikrein heavy chain;plasma kallikrein light chain;plasma prekallikrein APPROVED protein-coding ENSG00000164344 HGNC:6371 01971 229000;612423 REVIEWED 1353186 KLRC1 killer cell lectin-like receptor subfamily C, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 12 12 12 p13 15745049 15753642 - 10594863 10607215 - 10442264 10454616 - 1580863;6480464;6907045 10320637;10488737;11238637;11513152;12165520;12387742;12444112;12461076;12477932;12618865;15489334;15528343;15550116;15561299;15687235;16434388;16690409;16951318;17545086;17706207;17767552;17927829;17976318;18056444;18083576;18172398;18332182;18448674;18500933;18700876;18941190;18981088;19002424;19124726;19395088;19615756;19694640;19782712;20012119;2007850;20139023;20237496;20379614;20550548;20587610;20648603;20654155;20696944;20700504;20952657;21212510;21518478;21538351;22486170;24673109;8436421;8753859;8943374;9034158;9218532;9485206;9486650;9598306;9842883 3821 F5GYZ0;H0YGB7;P26715 AB073871;ABBA01067805;AC068775;AF023840;AF461812;AK310992;AMYH02026027;BC012550;BC053840;DB464226;NM_002259;NM_007328;NM_213657;NM_213658;U54782;U54783;U54784;U54785;U54786;X54867;X54868;XM_005253360 AAB17133;AAC17488;AAH12550;AAH53840;AAL65234;ABM83666;ABM86912;ABM87729;BAB91356;CAA38649;CAA38650;NP_002250;NP_015567;NP_998822;NP_998823;P26715;XP_005253417 Hs.512576 1650415;1729133;1797800;2154064;2217536 D12S1416;G63923;KLRC1_2531;KLRC2_1688;SGC35438 CD159A;MGC13374;MGC59791;NKG2;NKG2A C-lectin type II protein;CD159 antigen-like family member A;NK cell receptor A;NKG2-1/B activating NK receptor;NKG2-A/B type II integral membrane protein;NKG2-A/B-activating NK receptor;NKG2-A/NKG2-B type II integral membrane protein;OTTHUMP00000238969;OTTHUMP00000238970;OTTHUMP00000238971;OTTHUMP00000238972;natural killer cell lectin;natural killer group protein 2 APPROVED protein-coding ENSG00000134545 HGNC:6374 01192 161555 REVIEWED 1342769 KLRC4 killer cell lectin-like receptor subfamily C, member 4 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010] 12 12 12 p13.2-p12.3 15721849 15724222 - 10541529 10562370 - 10407384 10409757 - 1580863;6480464;6907045 10426993;10783260;11323699;11520456;11567106;11751968;11777960;12133964;12426564;12426565;12477932;15140575;15489334;16397273;18006695;20237496;20648603;20654155;20811687;23291587;8436421;9394807;9598306;9683661;9887346 8302 O43908 ABBA01067805;AC022075;AF027164;AF350018;AF350019;AJ001683;AJ001686;AMYH02026027;BC017784;NM_013431;U96845;U96846 AAC17491;AAC51909;AAC51910;AAH17784;AAK83805;AAK83806;ABM82904;ABM86095;CAA04921;CAA04924;NP_038459;O43908 Hs.721094 1693916;2119200 G17638;G42648 FLJ17759;FLJ78582;NKG2-F;NKG2F NK cell receptor F;NKG2-F type II integral membrane protein;NKG2-F-activating NK receptor;OTTHUMP00000238963;natual killer cell group 2-F APPROVED protein-coding ENSG00000183542 HGNC:6377 16008 602893 REVIEWED 7380820 KLRC4-KLRK1 KLRC4-KLRK1 readthrough This locus represents naturally occurring read-through transcription between the neighboring KLRC4 (killer cell lectin-like receptor subfamily C, member 4) and KLRK1 (killer cell lectin-like receptor subfamily K, member 1) genes on chromosome 12. The read-through transcript includes an alternate 5' exon and lacks a significant portion of the KLRC4 coding sequence, including the start codon, and it thus encodes the KLRK1 protein. [provided by RefSeq, Dec 2010] 12 12 p 10524952 10562745 - 10372353 10410146 - 6480464 10426993;10426994;10783260;11751968;11754823;11973127;12679019;14702039;15240696;15294961;15489334;16444266;16541075;18676862;2007850;20967262;23291587;8436421;9598306;9683661;9887346 100528032 H3BQV0;H3BRK7;H3BU71;K7EPB6;P26718 ABBA01067805;AC022075;AF439512;AF461811;AK292020;AK310717;AMYH02026027;NM_001199805;X54870 AAL35226;AAL65233;BAF84709;CAA38652;NP_001186734;P26718 Hs.387787 2115931 STS-X54870 NK cell receptor D;NKG2-D type II integral membrane protein;NKG2-D-activating NK receptor;killer cell lectin-like receptor subfamily K member 1 protein-coding ENSG00000255819 HGNC:48357 VALIDATED 735531 KLRD1 killer cell lectin-like receptor subfamily D, member 1 Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 p13 15618875 15631673 + 10457050 10469850 + 10304451 10360833 + 1580863;6480464;6907045 10023772;10201920;10320637;11493613;11513152;11751968;12149421;12165520;12387742;12444112;12461076;12477932;12618865;14607929;14734748;15489334;15528343;15561299;15940674;16237464;16378079;17706207;17767552;17976318;18083576;18323797;18332182;18363778;18448674;19124726;19303396;19555665;19782712;19811464;19897577;20132973;20237496;20648603;20654155;21212510;22102879;22384114;22486170;22576308;23400010;24030638;24082146;24177169;24673109;24935923;7589107;8046333;8769479;8943374;9034158;9405670;9472066;9485206;9486650;9598306;9601951;9655483;9815261;9886400 3824 E9PCX9;F5GX94;F5H2B7;F6WZH4;H0YFB8;Q13241;Q53ZY6 AB009597;AB010084;ABBA01067803;ABBA01067804;AC022075;AF498040;AF498041;AJ000001;AJ000673;AK291506;AMYH02026027;AY227806;AY327501;BC028009;BC042884;CH471094;NM_001114396;NM_002262;NM_007334;U30610;XM_005253363;XM_006719065;XM_006719066;XM_006719067;XM_006719068;Y14287 AAC50291;AAH28009;AAM70197;AAM70198;AAP57386;AAQ93007;ABM81956;ABM85135;BAA24450;BAA24451;BAF84195;CAA03845;CAA04230;CAA74663;EAW96172;EAW96173;EAW96174;EAW96175;NP_001107868;NP_002253;NP_031360;Q13241;XP_005253420;XP_006719128;XP_006719129;XP_006719130;XP_006719131 Hs.562457 CD94;KP43 CD94 antigen;NK cell receptor;OTTHUMP00000238754;OTTHUMP00000238755;OTTHUMP00000238756;OTTHUMP00000238758;OTTHUMP00000239093;natural killer cells antigen CD94 APPROVED protein-coding ENSG00000134539 HGNC:6378 04204 602894 REVIEWED 1343603 KLRF1 killer cell lectin-like receptor subfamily F, member 1 KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009] 12 12 12 p13.31 15141454 15158976 + 9980038 9997604 + 9827481 9845005 + 1580863;6480464 10671213;11265639;11513955;12477932;15489334;18922855;20237496;21149606;23609447;23929856 51348 Q4KN05;Q4KN30;Q9NZS2 ABBA01067794;AC007068;AF175206;AF175207;AF267244;AF267245;AJ305370;AMYH02026018;AMYH02026019;BC096734;BC098166;BC098257;BC098354;CH471094;KF573680;NM_001291822;NM_001291823;NM_016523;NR_120305 AAF37804;AAF37805;AAH96734;AAH98166;AAH98257;AAH98354;AAL14873;AAL14874;CAC29425;EAW96124;EAW96125;EAW96126;NP_001278751;NP_001278752;NP_057607;Q9NZS2 Hs.183125 1691072;1778730;1850356 AFMa184zc1;D12S1909;RH91505 CLEC5C;MGC119907;MGC119908;MGC119909;NKp80 C-type lectin domain family 5 member C;OTTHUMP00000238675;OTTHUMP00000238676;OTTHUMP00000238678;activating coreceptor NKp80;killer cell lectin-like receptor F1;killer cell lectin-like receptor subfamily F member 1;lectin-like receptor F1 APPROVED protein-coding ENSG00000150045 HGNC:13342 05432 605029 VALIDATED 1347088 KLRH1 killer cell lectin-like receptor subfamily H, member 1 114698 HGNC:16300 1345052 KLRI1 killer cell lectin-like receptor subfamily I, member 1 359810 HGNC:21032 1345828 KLRE1 killer cell lectin-like receptor family E member 1 3825 HGNC:6379 4105863 KLRF2 killer cell lectin-like receptor subfamily F, member 2 ENCODES a protein that exhibits protein homodimerization activity; INVOLVED IN cytokine secretion (inferred); natural killer cell degranulation (inferred); FOUND IN integral component of plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog); Aroclor 1254 (ortholog) 12 12 12 p13 15195471 15209811 + 10034088 10048432 + 9881489 9895833 + 6480464 20194751;23803857 100431172 D3W0D1 ABBA01067795;AC091814;AMYH02026019;GQ398770;NM_001190765 ADC80446;D3W0D1;NP_001177694 Hs.725113 NKp65 activating coreceptor NKp65;killer cell lectin-like receptor subfamily F member 2;lectin-like receptor F2 protein-coding ENSG00000256797 HGNC:37646 VALIDATED 1352252 KMS Kabuki make-up syndrome ASSOCIATED WITH Bardet-Biedl Syndrome (inferred); Kallmann Syndrome (inferred); McKusick Kaufman syndrome (inferred) 7240710 3826 HGNC:6382 209900;236700;308700 737300 KMO kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease. [provided by RefSeq, Oct 2011] 1 1 1 q42-q44 214950683 215013947 + 241695324 241758949 + 241532024 241595647 + 724408;1580863;2290313;2290312;6480464;6907045;8554872 3400092;6466295;9237672 10672018;11401433;12402501;12477932;14704851;15342556;15950064;16344560;16710414;16716206;19626040;21030213;21693093;21727251;23251661;24316190 8564 A8K693;H0Y320;O15229 ABBA01033250;ABBA01033251;AF056032;AI262990;AK291558;AK310937;AL133390;AMYH02003038;AU137977;BC005297;BP276365;CB989076;CH471098;DB373228;FO393423;NM_003679;XM_005273337;XM_005273338;Y13153 AAC62615;AAH05297;BAF84247;CAA73613;EAW70094;EAW70095;EAW70096;NP_003670;O15229;XP_005273394;XP_005273395 Hs.731056;Hs.744065 1298297;1647810;1648696;1657658;1751533;1775034;2148643;2160185;2177017;2182985;2219868 A007K45;D1S3521;D1S3591;D1S547;KMO__6342;SHGC-105324;SHGC-34194;SHGC-58108;SHGC-76597;SHGC-76600;SHGC-76603 dJ317G22.1 OTTHUMP00000037618;OTTHUMP00000037619;OTTHUMP00000037620;kynurenine 3-hydroxylase;kynurenine 3-monooxygenase APPROVED protein-coding ENSG00000117009 HGNC:6381 04642 603538 REVIEWED 1604700 KLRG2 killer cell lectin-like receptor subfamily G, member 2 ENCODES a protein that exhibits carbohydrate binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 3,4-dichloroaniline; coumestrol 7 7 7 q34 133876259 133906629 - 139138088 139168457 - 139452414 139483711 - 6480464 12477932;16344560;20945404 346689 A4D1S0 AA742567;ABBA01001188;ABBA01001189;ABBA01001190;ABBA01001191;ABBA01001192;AC005531;AK126174;AMYH02016887;BC104963;BC104965;BC110858;CH236950;CH471070;DB128604;NM_198508;XM_005250311;XM_006715965 A4D1S0;AAI04964;AAI04966;AAI10859;BAC86473;EAL24036;EAW83921;NP_940910;XP_005250368;XP_006716028 Hs.17572 1674191;2168317 G29153;STS-T95347 CLEC15B;FLJ44186;MGC131846 C-type lectin domain family 15 member B;C-type lectin domain family 15, member B;OTTHUMP00000212370;killer cell lectin-like receptor subfamily G member 2 protein-coding ENSG00000188883 HGNC:24778 13485 VALIDATED 737284 KLRG1 killer cell lectin-like receptor subfamily G, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. Alternatively spliced transcript variants have been reported, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 10679601 10700699 + 9142137 9163343 + 8989541 9058157 + 1580863;6480464;8554872 12393723;12477932;15368283;15879103;16140789;16189514;16461340;17079288;17617594;1831652;19406987;19604491;20213756;20237496;20379614;20394788;21387286;21933704;22684915;23740233;23966413;24022692;24337749;24752778;9765598;9842918;9862378 10219 F5H207;F5H8E3;Q96E93 ABBA01012257;AC006581;AC007436;AF034952;AF081675;AF097358;AI433079;AK301367;AK316337;AMYH02025996;BC012621;CH471116;NM_005810;XM_006719026 AAC32200;AAC34731;AAD03719;AAH12621;ABM83746;ABM87065;BAG62909;BAH14708;EAW88594;EAW88595;NP_005801;Q96E93;XP_006719089 Hs.558446 1341404;1759183;2117765 D12S1695;RH65666;SHGC-152873 2F1;CLEC15A;MAFA;MAFA-2F1;MAFA-L;MAFA-LIKE;MGC13600 C-type lectin domain family 15 member A;C-type lectin domain family 15, member A;ITIM-containing receptor MAFA-L;MAFA-like receptor;OTTHUMP00000238502;OTTHUMP00000238503;killer cell lectin-like receptor subfamily G member 1;mast cell function-associated antigen (ITIM-containing) APPROVED protein-coding HGNC:6380 16076 604874 REVIEWED 1320090 KMT2E lysine (K)-specific methyltransferase 2E This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 99460293 99560171 + 104654637 104754532 + 105014190 105114085 + 1580863;6480464;6907045;7242632;9587761;8554872 23200123;24200674 11597142;12101424;12477932;14702039;14718661;16046540;16954720;18231586;18573682;19322201;20439461;21145461;21205756;21423215;21908553;22797924;23629655;23696512;23754336;23798402;23958951;24130829;24796963;7672722;9218106 55904 C9JNE1;C9JQ68;C9JYI9;E7ETZ7;F8WAU9;H7C4F3;H7C5C4;Q8IZD2;S4R363 ABBA01057960;ABBA01057961;AC005065;AC005070;AC007384;AF067804;AF519459;AK000940;AK024088;AMYH02016466;AMYH02016467;AMYH02016468;AY113691;AY147037;AY157990;AY195568;AY195569;AY211525;AY222296;AY234382;AY438698;AY438699;BC001296;BC009061;BC016382;BC024658;BC040004;BC040848;BC053906;BC062583;BC142987;CH236947;CH471070;JQ809698;NG_033949;NM_018682;NM_182931;XM_005250493;XM_006716049 AAD04721;AAF75564;AAH01296;AAH40004;AAH53906;AAH62583;AAI42988;AAM74947;AAN17675;AAN76325;AAO47009;AAO47010;AAO64395;AAO86416;AAO89072;AAR13893;AAR13894;AGE34449;BAB14821;EAW83355;EAW83356;EAW83357;EAW83358;NP_061152;NP_891847;Q8IZD2;XP_005250550;XP_006716112 Hs.592262 1336199;1674983;1677656;1679005;1685918;1695272;1695384;1699532;1757293;1767914;1767916;2132077;2149911;2162059;2179965;2180179;2189481;2218566;5491567;7186769 D7S2168E;D7S2332;D7S2545;MARC_21397-21398:1032898998:1;MARC_7337-7338:992008345:1;MLL5__3654;RH103363;RH12001;RH46588;RH64853;RH78854;RH92402;SGC30791;SHGC-144699;SHGC-62991;SHGC-68481;WI-15919;WI-16208;WI-21004 FLJ10078;FLJ14026;HDCMC04P;MGC70452;MLL5;NKp44L OTTHUMP00000212083;OTTHUMP00000212085;histone-lysine N-methyltransferase 2E;histone-lysine N-methyltransferase MLL5;lysine N-methyltransferase 2E;myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila);myeloid/lymphoid or mixed-lineage leukemia protein 5 APPROVED protein-coding ENSG00000005483 HGNC:18541 10528 608444 REVIEWED 1605411 KMT2B lysine (K)-specific methyltransferase 2B This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 32922394 32943254 + 36208921 36229781 + 35718019 35738878 + 6480464;6907045;7242632;9587761;8554872;9479053 22663077;23200123;24200674 10409430;10637508;10744724;12477932;15057824;15231748;15302935;15489334;16147992;16199523;16713569;16751776;17021013;17081983;17166833;17474147;17500065;18029348;18320596;18838538;19047629;19060922;19221051;20305087;20433758;20516061;21502505;21890473;21900206;22266653;22665483;22713656;23000965;23129768;23426673;9171351;9205841 9757 Q9UMN6 AB002302;ABBA01018761;ABBA01018762;AD000671;AF104918;AF105279;AF105280;AF186605;AJ007041;AMYH02035989;BC007353;BC009337;BC026861;BM967067;KC877727;KF511267;NM_014727;XM_006723513;XM_006723514;XM_006723515 AAD17932;AAD26112;AAD26113;AAD56420;AAH07353;AAH09337;BAA20763;CAB45385;NP_055542;Q9UMN6;XP_006723576;XP_006723577;XP_006723578 Hs.676457;Hs.92236 1661548;1734716;2189361;2217608;2218130;5021690 D19S705E;MARC_2763-2764:991933378:3;MLL4_3747;STS-H85102;TZFP_3812;ksks195 HRX2;KIAA0304;KMT2D;MLL1B;MLL2;MLL4;TRX2;WBP-7;WBP7 OTTHUMP00000045792;WW domain binding protein 7;WW domain-binding protein 7;histone-lysine N-methyltransferase 2B;histone-lysine N-methyltransferase MLL4;lysine N-methyltransferase 2B;lysine N-methyltransferase 2D;mixed lineage leukemia gene homolog 2;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4;myeloid/lymphoid or mixed-lineage leukemia 4;myeloid/lymphoid or mixed-lineage leukemia protein 4;trithorax homolog 2;trithorax homologue 2 APPROVED protein-coding ENSG00000272333 HGNC:15840 06017 606834 REVIEWED 1604992 KNCN kinocilin FOUND IN apical plasma membrane (inferred); ciliary basal body (inferred); cuticular plate (inferred); INTERACTS WITH paracetamol; choline (ortholog); folic acid (ortholog) 1 1 1 p33 45298709 45304280 - 47011316 47016887 - 46545644 46551215 - 6480464 12477932;14702039;15855039;16344560 148930 A6PVL3;Q96MR4 ABBA01050837;AK056573;AL136373;AMYH02000961;BC101295;BC101296;BC101297;BC101298;CH471059;DA208279;DB324949;NM_001097611 A6PVL3;AAI01296;AAI01297;AAI01298;AAI01299;BAB71220;EAX06906;NP_001091080 Hs.350764 FLJ32011;Kino;L5;MGC120370;MGC120371;MGC120372;RP11-49P4.2 OTTHUMP00000196304;OTTHUMP00000231549;likely orthologue of Mus musculus kinocilin (Kncn) protein-coding HGNC:26488 08117 611455 PROVISIONAL 7247800 KMT2E-AS1 KMT2E antisense RNA 1 (head to head) 7 7 7 q22.3 99456645 99460244 - 104650989 104654588 - 105010542 105014141 - 12477932;14702039 100216545 ABBA01057961;AC007384;AK094372;AK123476;AK124046;AMYH02016466;AW000796;BC017007;CH236947;NG_033949;NR_024586 Hs.631150 ncrna HGNC:40845 VALIDATED 735993 KLRK1 killer cell lectin-like receptor subfamily K, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010] 12 12 12 p13.2-p12.3 15686800 15704498 - 10524952 10542653 - 10372353 10390054 - 6480464;6907045 10367903;10426993;10426994;11239445;11323699;11520456;11567106;11751968;11754823;11777960;11973127;12133964;12384702;12426564;12426565;12477932;12594848;12646700;12679019;12732206;12740575;12902493;14508119;14523385;15051759;15065764;15070686;15187109;15240696;15294961;15328155;15489334;15652646;15657183;15699119;15699512;15814668;15885603;16081780;16136475;16210654;16239914;16272287;16293707;16344560;16517727;16568261;16630603;16690951;16732291;16849432;16887974;16901903;16914326;17043026;17109473;17170457;17173658;17202358;17217747;17255258;17267578;17405908;17470428;17570210;17584663;17609265;17625602;17635809;17661204;17875681;17923698;17991774;18006849;18023027;18024793;18070447;18094399;18094430;18097042;18174257;18202175;18230726;18275895;18280748;18287244;18313361;18316620;18354183;18360276;18361934;18394936;18398827;18398831;18417514;18490724;18490733;18508446;18564160;18599182;18602338;18619507;18657862;18658158;18676862;18700876;18754036;18832705;18836475;18941207;19032228;19038287;19086992;19087227;19118515;19124832;19140827;19155520;19200602;19237603;19286259;19289577;19303396;19319200;19329438;19363685;19424970;19436053;19454690;19489688;19498463;19508374;19542445;19555665;19569244;19587005;19631280;19658097;19689730;19711124;19735685;19794085;19861434;20008788;20012119;20024547;20045334;20074451;2007850;20080967;20150362;20354827;20393128;20415540;20460636;20488792;20511557;20519648;20530257;20536569;20587610;20648603;20667578;20800424;20844584;20863413;20883317;20926796;20959069;21061445;21074271;21075351;21085608;21115900;21179506;21277902;21307295;21321202;21469127;21477352;21518478;21518928;21554925;21590763;21598106;21600899;21626292;21689246;21706044;21712812;21789015;21816829;21994772;22102694;22104546;22105417;22143889;22167753;22170554;22200673;22242197;22252158;22304689;22316211;22360401;22384114;22438812;22449797;22480139;22507622;22585739;22613008;22640649;22730533;22798674;22806577;22870231;22942430;23020627;23115291;23202519;23235109;23251661;23298206;23298273;23302231;23360454;23413900;23417963;23445485;23772752;23846901;23913973;23947399;23994587;24019170;24168855;24282598;24496997;24673109;24891320;8889548;9394807;9598306;9683661 22914 P26718;Q8WZ67 ABBA01067805;AC022075;AF260135;AF260136;AJ001687;AK226161;AK292059;AMYH02026027;BC039836;CB241686;CH471094;DA933271;DA960048;DQ494172;NG_027762;NM_007360 AAF86973;AAF86974;AAH39836;ABF50044;BAF84748;CAA04925;EAW96178;EAW96180;EAW96182;NP_031386;P26718 Hs.387787 2115931 STS-X54870 CD314;D12S2489E;FLJ17759;FLJ75772;KLR;NKG2-D;NKG2D NK cell receptor D;NKG2-D type II integral membrane protein;NKG2-D-activating NK receptor;OTTHUMP00000239062;OTTHUMP00000239064;nkr-p2, ortholog of human nkg2d APPROVED protein-coding ENSG00000213809 HGNC:18788 17240 611817 REVIEWED 1345529 KNO Knobloch syndrome 8776601 3828 HGNC:6384 7251370 KNOP1P1 lysine-rich nucleolar protein 1 pseudogene 1 12 12 12 p12.1 29874122 29884384 + 24736120 24738047 + 24583186 24585113 + 100129937 ABBA01068004;AC087312;AMYH02026213;AMYH02026214;NG_029610 pseudo HGNC:48919 INFERRED 1606640 KNOP1 lysine-rich nucleolar protein 1 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; formaldehyde 16 16 16 p12.3 18866635 18878453 - 19717673 19729726 - 19706351 19718353 - 6480464 10493829;12477932;19471022;21693764;23333304;24654937 400506 H3BMC9;H3BNU8;H3BPL4;Q1ED39 ABBA01028265;AC002550;AMYH02031651;BC047010;BC089430;BC117562;NM_001012991;XM_005255316;XM_005255317;XM_006721046 AAC05805;AAH89430;AAI17563;NP_001013009;Q1ED39;XP_005255373;XP_005255374;XP_006721109 Hs.585209 1735800;1776658;5113103 D8S1410E;RH48839;RH69601 101F10.1;C16orf88;FAM191A;TSG118 family with sequence similarity 191, member A;testis-specific gene 118 protein APPROVED protein-coding HGNC:34404 18415 PROVISIONAL 7252989 KNOP1P2 lysine-rich nucleolar protein 1 pseudogene 2 12 12 12 45072075 45073393 - 46274733 46276051 - 45880950 45882268 - 100420898 ABBA01031452;AC009464;AMYH02026403;NG_024004 pseudo HGNC:48920 INFERRED 1347083 KMT2C lysine (K)-specific methyltransferase 2C This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 146389572 146690258 - 151832010 152133090 - 152134925 152436005 - 1580863;6480464;6907045;7242632;9587761;8554872;9479164;9479053 22663077;23200123;23697932;24200674 10819331;11718452;11891048;12168954;12461691;12477932;12482968;12676563;12853948;14702039;15342556;15365572;16344560;16916647;17021013;17081983;17353931;17403666;17500065;17614854;17761849;17925232;19047629;19136632;19215798;19221051;19240061;19322201;19556342;19913121;20305087;20516061;20600896;20628086;20936779;21116761;21139048;21447625;21502505;21683083;21853109;21900206;22034226;22183980;22266653;22665483;23129768;23259788;23429989;23991983;24081332;24211404;24965397;7895173;8889548;9847074 58508 C9J4Z5;H0Y765;H0YMU7;H0YNL4;H7BY37;H7C212;H7C2V8;Q6N019;Q8NEZ4 AB040939;ABBA01035137;ABBA01035138;ABBA01035139;ABBA01035140;ABBA01035141;AC005631;AC006017;AC006474;AC104692;AF264750;AK022687;AK025553;AK025911;AK075113;AK095628;AL832387;AL833924;AMYH02017083;AMYH02017084;AMYH02017085;AMYH02017086;AMYH02017087;AY024361;BC011921;BC151837;BP281562;BU623509;BU685177;BX640742;CD513584;DA266956;NG_033948;NM_170606;XM_005250025;XM_005250026;XM_005250027;XM_005250028;XM_005250031;XM_006716077;XM_006716078;XM_006716079;XR_428183 AAD45822;AAF74766;AAI51838;AAK00583;AAS00364;BAA96030;BAC11409;CAD38780;CAE45854;NP_733751;Q8NEZ4;XP_005250082;XP_005250083;XP_005250084;XP_005250085;XP_005250088;XP_006716140;XP_006716141;XP_006716142 Hs.647120 1650906;1663401;1668798;1701456;1725107;1751497;1768780;1847408;1848991;2111994;2137693;2143764;2147886;2149244;2163690;2169050;2181865;2183029;2187709;2187711;2187713;2187715;2187717;2187719;2218734;5015404;5016478;5020881;5022463;5022685;5024413 AFMa153wd9;BAGE__4427;D1S3660;D3S1673;D7S2222;D7S3200;D7S3202;D7S3203;D7S3204;D7S3205;D7S3206;G18004;GDB:1318126;GDB:1318392;GDB:434012;GDB:4585181;L17705;L17709;L17877;MLL3;RH104360;RH118851;RH16362;RH16464;RH45284;RH46397;RH69864;SGC34800;SHGC-105317;SHGC-35156;WI-17647 DKFZp686C08112;FLJ12625;FLJ38309;HALR;KIAA1506;MGC119851;MGC119852;MGC119853;MLL3 ALR-like protein;OTTHUMP00000197821;histone-lysine N-methyltransferase 2C;histone-lysine N-methyltransferase MLL3;histone-lysine N-methyltransferase, H3 lysine-4 specific;homologous to ALR protein;lysine N-methyltransferase 2C;myeloid/lymphoid or mixed-lineage leukemia 3;myeloid/lymphoid or mixed-lineage leukemia protein 3 APPROVED protein-coding ENSG00000055609 HGNC:13726 06016 606833 REVIEWED 1603713 KNG1 kininogen 1 This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. In contrast to HMWK, LMWK is not involved in blood coagulation. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 3 3 3 q27 184871536 184898662 + 186435098 186462199 + 186717309 186744410 + 2311541;6480464;6484113;6907045;7240710;7401223;8554872 16177542;17065357 10066772;10464316;10845911;10887113;11278902;11290596;11385996;11434682;11517935;11677365;11689005;11792853;11920276;11970955;1202089;12051729;12071855;12082110;12090937;12173;12213329;12452440;12477932;12492488;12576314;12594059;12663668;12715893;12748173;12754519;12761213;12851878;12887060;12911595;12952972;14506238;14517215;14530218;14597972;14629481;14687935;14718574;14760718;14764580;15028279;15044324;15086463;16014619;16091369;16140359;16335952;16344560;16502470;1652157;16598774;16712791;16754659;17050061;1733668;17585065;17635790;18000168;18029348;18039931;18083112;18156442;18240029;18330734;18455532;18783336;18810490;19056867;19082699;19086053;19126685;19213944;19330902;19584173;19592120;19716087;19885862;19913121;19923143;19966052;20050188;20303064;20379614;20628086;2066106;20876611;21054968;21145461;21270443;21451024;21496200;21527472;21586566;21982724;22701019;22703881;23000411;23082758;23672780;23808406;23874198;2460446;24688027;2834384;291905;2989293;2989294;3038169;3045123;3182782;3366244;3484703;3488317;3689342;3936495;4054110;4952632;500690;6406551;6441591;7492318;7589467;7686159;7901207;7944388;8125298;8253784;8662705;8706894;8710908;8761966;8764310;8807575;9269768;9276160;9428707;9459346 3827 P01042 ABBA01058383;ABBA01058384;AC109780;AC112907;AI133186;AK223589;AK290839;AK298440;AK303768;AK315230;AMYH02008348;AMYH02008349;AMYH02008350;AY248697;BC026253;BC060039;BG430928;CB148843;CD014130;CH471052;DA537547;DC362362;HC918468;K02566;M11437;M11438;M11521;M11522;M11523;M11524;M11525;M11526;M11527;M11528;NG_016009;NM_000893;NM_001102416;NM_001166451 AAA35497;AAB59550;AAB59551;AAH26253;AAH60039;AAO61092;BAD97309;BAF83528;BAG37659;BAG60660;BAG64734;CBN73461;EAW78179;EAW78180;EAW78181;NP_000884;NP_001095886;NP_001159923;P01042 Hs.77741 1665815;1698828;1741445;1772852;1849965;2124731 D3S3899;D3S3935;GDB:181214;RH102978;SHGC-35523;STS-M11437 BDK;BK;HMWK;KNG OTTHUMP00000197128;OTTHUMP00000197129;OTTHUMP00000210109;alpha-2-thiol proteinase inhibitor;bradykinin;fitzgerald factor;high molecular weight kininogen;kininogen-1;williams-Fitzgerald-Flaujeac factor APPROVED protein-coding HGNC:6383 01970 228960;612358 REVIEWED 7247511 KNOP1P5 lysine-rich nucleolar protein 1 pseudogene 5 8 8 8 q24.13 123267493 123269134 + 127084817 127086491 + 126072573 126074247 + 100130158 ABBA01037924;AC024681;AMYH02018741;NG_022436 pseudo HGNC:48923 INFERRED 1347719 KMT2A lysine (K)-specific methyltransferase 2A This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] 11 11 11 q23 115467997 115556730 + 118307205 118397539 + 118436490 118526824 + 1625285;1580863;6480464;6907045;7242632;9587761;8699517;7240710;8554872;9479164;9479053 22663077;23200123;23697932;24200674;8361504 10490642;10588740;10648423;10656681;10706619;10821850;10920186;10995463;11110714;11181995;11259575;11313484;11433529;11733351;11809673;11921290;11930009;11943339;11976948;12023017;12034519;12095151;12096348;12123608;12124344;12127405;12138900;12192052;12203795;12205094;12393701;12461747;12477932;12482972;12547160;12549820;12618766;12618768;12637319;12646957;12660026;12665591;12665971;12696071;12732503;12743608;12829790;12946992;1303259;1423624;1423625;14504097;14551139;14562113;14580777;14607843;14607844;14636557;14702039;14704031;14751928;14978793;14990976;14999297;15132992;15160920;15199122;15221006;15302935;15542854;15592432;15618957;15618964;15621793;15640349;15670842;15710585;15774615;15815718;15960974;15960975;15968309;15996925;16019540;16029447;16061630;16076867;16086288;16138343;16138344;16169901;16193084;16199523;16215946;16239140;16253272;16328057;16357944;16386788;16433901;16510874;16510875;16565220;16604156;16618927;16799563;16843108;16878130;16951254;16970032;16990798;17047146;17081983;17166833;17203973;17205059;1720549;17252016;17268512;17280715;17341662;17410185;17550846;17578910;17581865;17597811;17612494;17671196;17698583;17763464;17851550;17854671;17889710;17905612;17908926;17942719;17957188;18007578;18024407;18082152;18195096;1835902;18450602;18538732;18559874;18566324;18598942;18617057;18642054;18656690;18656699;18676843;18776924;18806775;18829457;18829459;18840606;19028982;19029444;19059939;19109563;19144982;19155294;19187761;19208841;19219072;19220463;19229974;19262598;19264358;19269851;19309322;19438726;19454010;19454493;19528237;19528532;19556245;19631984;19722759;19729989;19763085;19818711;19835597;19855078;19940862;19956635;19965632;20064463;20093773;20113834;20113838;20139053;20153263;20206559;20215641;20299091;20305087;20309963;20332322;20362031;20395514;20452361;20454944;20493169;20520634;20541251;20541477;20558618;20581860;20658337;20677832;20682395;20691474;20818375;20819778;20844554;20854876;20855524;20858288;20861917;20869771;20920256;20961854;20969867;20979663;20980053;21030982;21106533;21116279;21124902;21135039;21135858;21139048;21220120;21285357;21331072;21389315;21436736;21464370;21493871;21518926;21565404;21706045;21726816;21741597;21757704;21836617;21890473;21896721;21900057;21937695;21953510;21959947;21988239;21998658;22012064;22039304;22046413;22052166;22094252;22137486;22174154;22212479;22266653;22304832;22327296;22382894;22427200;22583166;22586326;22665483;22674806;22705992;22740449;22795537;22814291;22845170;22846743;22858909;22895430;22921182;22926525;22927255;22936661;22939629;22989411;23000965;23032693;23079661;23100278;23108137;23129768;23132946;23178754;23192982;23238285;23334362;23340173;23412334;23443559;23453805;23453885;23455922;23457195;23479570;23515098;23562474;23624644;23736260;23744037;23798388;23868976;23923644;23949951;23990460;23994619;24051379;24057258;24081332;24086652;24150221;24163370;24166297;24189350;24235145;24244196;24301523;24323992;24373511;24639526;24680668;24695851;24816145;24880690;24886118;24930734;25016062;7598802;7689231;7794749;8162575;8219184;8378076;8414518;8506328;8703835;8950979;9129043;9353299;9477123;9537414;9694699 4297 E9PR05;H0YEU4;H7BYJ6;H7C5V8;H7C5W4;Q03164 AB209508;ABBA01039706;ABBA01039707;ABBA01039708;AF036405;AF232000;AF232001;AF272370;AF272371;AF272372;AF272378;AF272379;AF272380;AF272381;AF272382;AF487906;AF512944;AK021845;AK295635;AK303179;AMYH02025641;AMYH02025642;AP000941;AP001267;AY187942;AY187943;AY187944;AY187945;AY373585;BC015388;BC039603;BC065385;BC090876;CH471065;D14540;FM165198;JF938536;L01986;L04284;L04731;NG_027813;NM_001197104;NM_005933;S66432;S78570;S78571;U04737;X83604;XM_006718839;XM_006718840;Z69744 AAA18644;AAA58669;AAA92511;AAB28545;AAB34770;AAB34771;AAC95283;AAC95284;AAG26334;AAG26335;AAG31978;AAG31979;AAG31983;AAG31984;AAG31985;AAG31986;AAM14566;AAM82546;AAO38742;AAO38743;AAO38744;AAO38745;AAQ63624;BAA03407;BAD92745;BAG58509;BAG64274;CAA58584;CAA93625;CAQ60122;EAW67380;EAW67381;EAW67382;EAW67383;EAW67384;NP_001184033;NP_005924;Q03164;XP_006718902;XP_006718903 Hs.258855 1672870;1776826;1794800;1853078;2124436;2135238;2136786;2144761;2161181;2190995;5493125 MARC_12741-12742:1029349377:1;MLL1;PMC56962P1;RH16534;RH44274;RH48277;RH65355;STS-AA009746;STS-H92945;STS-T67449;UniSTS:484385 ALL-1;CXXC7;FLJ11783;HRX;HTRX1;MLL;MLL/GAS7;MLL1;MLL1A;TET1-MLL;TRX1;WDSTS CDK6/MLL fusion protein;CXXC-type zinc finger protein 7;MLL-AF4 der(11) fusion protein;MLL/GAS7 fusion protein;MLL/GMPS fusion protein;OTTHUMP00000232648;OTTHUMP00000238461;histone-lysine N-methyltransferase 2A;histone-lysine N-methyltransferase MLL;lysine N-methyltransferase 2A;mixed lineage leukemia 1;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila);myeloid/lymphoid or mixed-lineage leukemia protein 1;trithorax-like protein;zinc finger protein HRX APPROVED protein-coding ENSG00000118058 HGNC:7132 01162 159555;605130 REVIEWED 1351519 KNDC1 kinase non-catalytic C-lobe domain (KIND) containing 1 ENCODES a protein that exhibits protein serine/threonine kinase activity (inferred); Ras guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN cerebellar granule cell differentiation (inferred); positive regulation of protein phosphorylation (inferred); positive regulation of Ras GTPase activity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN dendrite (inferred); guanyl-nucleotide exchange factor complex (inferred); neuronal cell body (inferred); INTERACTS WITH diazinon; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 10 10 10 q26.3 128476610 128543501 - 134973971 135039916 + 133160467 133226412 + 6480464;8554872 11214970;12477932;16344560;16385451;16751776;21145461;21150319 85442 Q5U5J6;Q76NI1 AB000781;AB051555;ABBA01006206;ABBA01006207;AI146357;AI951527;AK057756;AK074179;AK090457;AK131205;AK294170;AL445199;AMYH02024085;AMYH02024086;AMYH02024087;BC047924;BQ719533;DA388038;DQ588046;NM_152643 AAH47924;AAI72419;BAB21859;BAB71561;BAB85005;BAC03438;BAD12625;BAD18397;BAG57491;NP_689856;Q76NI1 Hs.530685 2109459;2142368;5125229 KNDC1__6343;RH78666;SGC32344 C10orf23;FLJ16067;RASGEF2;RP13-439H18.3;bB439H18.3 KIND domain-containing protein 1;OTTHUMP00000179104;RasGEF domain family, member 2;cerebral protein 9;kinase non-catalytic C-lobe domain-containing protein 1;protein very KIND;ras-GEF domain-containing family member 2 protein-coding ENSG00000171798 HGNC:29374 13931 VALIDATED 1349296 KNPEP lysyl aminopeptidase (aminopeptidase Co) 3829 HGNC:6385 1350607 KMT2D lysine (K)-specific methyltransferase 2D The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010] 12 12 12 q13.12 48207544 48243891 - 49412758 49453935 - 49018975 49060147 - 1580863;6480464;6907045;7240710;8554872;7242632;9587761;8699517;9479053 22663077;23200123;24200674 10737800;12477932;12482968;14992727;15231748;15302935;15960974;16159877;16199523;16510874;16510875;16603732;16951254;17081983;17178841;17500065;17761849;17925232;18026121;18082152;19219072;19221051;19556342;19850743;20516061;20711175;20808952;20937768;21139048;21280141;21447625;21502505;21658225;21671394;21683083;21796119;21882399;21890473;22126750;22183980;22266653;22665483;22689669;22829784;22840376;22901312;22939629;23045699;23129768;23130995;23131014;23184418;23192982;23754336;23913813;23995757;24081332;24240169;24250222;24323028;24368734;24491801;24930734;8595911;8896557;9225980;9247308 8085 F8VWW4;H0YEF2;O14686;Q59FG6;Q6PIA1 AB209494;ABBA01031498;AC011603;AF010403;AF010404;AL359940;AMYH02026431;AW997729;BC039197;BC040663;BF739070;BF876885;BF993837;BI031059;BX956541;CH471111;CR749712;NG_027827;NM_003482;U80756;X85325;XM_005269162;XM_006719614;XM_006719615;XM_006719616;Y08267 AAB91448;AAC51734;AAC51735;AAH39197;BAD92731;CAA69593;EAW58034;EAW58035;EAW58036;NP_003473;O14686;XP_005269219;XP_006719677;XP_006719678;XP_006719679 Hs.731384 1671440;2123805;2160868 HSC1JE012;STS-T90896;WIAF-1691 AAD10;ALR;CAGL114;KABUK1;KMS;KMT2B;MLL2;MLL4;TNRC21 ALL1-related protein;Kabuki make-up syndrome;Kabuki mental retardation syndrome;OTTHUMP00000233155;histone-lysine N-methyltransferase 2D;histone-lysine N-methyltransferase MLL2;lysine N-methyltransferase 2B;lysine N-methyltransferase 2D;myeloid/lymphoid or mixed-lineage leukemia 2;myeloid/lymphoid or mixed-lineage leukemia protein 2;trinucleotide repeat containing 21 APPROVED protein-coding ENSG00000167548 HGNC:7133 03664 147920;602113 REVIEWED 7251275 KNOP1P3 lysine-rich nucleolar protein 1 pseudogene 3 2 2 2 p16.3 51577417 51578754 + 51737280 51738618 + 51510142 51511480 + 100128029 ABBA01075221;AC080091;AMYH02003819;NG_021563 pseudo HGNC:48921 INFERRED 1344647 KNSTRN kinetochore-localized astrin/SPAG5 binding protein INVOLVED IN chromosome segregation; mitotic sister chromatid segregation; regulation of attachment of spindle microtubules to kinetochore; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; kinetochore; microtubule cytoskeleton; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; benzo[a]pyrene diol epoxide I 15 15 15 q15.1 17440907 17452474 + 40674922 40686489 + 40382721 40394288 + 737633;6480464;8554872 12477932 14702039;15231747;15489334;15855057;16730941;17974975;19667759;20360068;21139048;21890473;21900206;21963094;22110139;23035123;24816145 90417 H0YKD4;H0YKF8;H0YLA7;H0YLH8;H0YM11;H0YN50;H0YNN6;Q9Y448;V9GY01 ABBA01038453;AC013356;AK027408;AK125765;AK298156;AK301887;AMYH02030237;AW156972;AY652615;BC004543;BC014060;BC021124;BC045739;BC064344;BC107802;BC118559;BC118639;CH471125;DC396708;NM_001142761;NM_001142762;NM_033286;U81002;XM_005254756 AAD24201;AAH04543;AAH14060;AAH45739;AAH64344;AAI07803;AAI18560;AAI18640;AAT66172;BAG60430;BAG63319;EAW92409;EAW92410;EAW92411;EAW92412;NP_001136233;NP_001136234;NP_150628;Q9Y448;XP_005254813 Hs.525796 1666322;1853999 A008N27;RH44711 C15orf23;FLJ14502;HSD11;MGC141728;MGC141729;SKAP;TRAF4AF1 TRAF4 associated factor 1;TRAF4-associated factor 1;kinastrin;kinetochore-localized astrin-binding protein;kinetochore-localized astrin/SPAG5-binding protein;putative TRAF4-associated factor 1;small kinetochore associated protein;small kinetochore-associated protein;small kinetochore-associated protein, kinetochore-localized astrin-binding protein, TRAF4 associated factor 1 APPROVED protein-coding ENSG00000128944 HGNC:30767 12669 614718 VALIDATED 7256684 KNOP1P4 lysine-rich nucleolar protein 1 pseudogene 4 6 6 6 74089202 74090796 + 73696064 73697670 + 72986341 72987947 + 100420843 ABBA01040301;AL360236;AMYH02013898;NG_025954 pseudo HGNC:48922 INFERRED 1347998 KPNA1 karyopherin alpha 1 (importin alpha 5) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 3 3 3 q21 120550374 120643600 - 122140748 122233786 - 122421901 122514939 - 1580863;6480464;6484113;8554872 10366569;10473610;10523667;10525473;10748034;10772949;10860744;10888652;10888660;10951564;10964507;11032817;11035935;11060446;11152524;11278458;11389849;11682607;11824786;11904219;11927559;12011095;12048190;12368302;12414950;12477932;12504543;12610148;12740372;12783858;12861017;14600264;14702039;15037073;15057270;15142377;15231748;15342649;15489334;15731250;15942031;16135813;16298512;1631159;16344560;16439554;16698996;16713569;17304248;17344301;17353931;17411366;17643375;17928350;17938174;17981117;18238777;18707546;19001869;19066626;19118899;19270695;19338763;19412186;19596235;19615732;19801544;19803398;1985200;19889762;19961612;20015032;20193720;20360068;20406804;2064827;20705733;20974480;21139048;21145461;21209321;21252943;21307607;21318276;21326825;21385873;21890473;21906983;21963094;21987768;21988832;22110766;22130666;22174317;22321063;22399302;22422068;22500989;22509482;22770219;22778253;22863883;22939629;22990118;23000965;23425335;23602568;23752268;24163370;24250222;24269683;24778252;24816145;7494303;7559393;7585960;7604027;7745752;7754385;7831767;7859280;7892216;8041734;8041786;8052633;8105392;8529100;8551560;8552640;8619474;8631802;8659115;8692858;8707840;8777717;8876228;9008157;9020149;9102465;9110174;9261351;9275210;9282826;9303297;9366553;9436978;9463369;9548947;9557700;9562972;9582382;9593140;9603322;9695948;9817747;9918876 3836 B3KXZ2;C9J352;C9J4U1;C9JWD9;C9JYI4;F2Z3G4;P52294 AA689229;ABBA01016468;ABBA01016469;AC083798;AC096861;AF035311;AI216375;AK125626;AK128280;AK299030;AK312713;AL700464;AL710311;AMYH02007537;AMYH02007538;AMYH02007539;BC002374;BC003009;BC029937;BC090864;BG287593;BT006959;CA433573;CH471052;CR456743;DA308391;DN991078;NM_002264;NR_026698;S75295;U20620;XM_005247437;XM_005247439 AAC60648;AAH02374;AAH03009;AAH90864;AAP35605;ABM82332;ABM87821;BAG54224;BAG54654;BAG61106;CAG33024;EAW79482;EAW79483;NP_002255;P52294;XP_005247494;XP_005247496 Hs.161008 1648652;1658940;1664245;1671512;1675068;1729041;1735126;1777389;1847073;2143462;2156816;2170076;2185361;5111289 A006N14;A006O36;D3S2793E;Kpna1;RH78274;SGC34836;SHGC-30180;SHGC-30346;SHGC-77259;SHGC-77263;SHGC-77266;WI-11825;WI-12216;WI-15791 IPOA5;NPI-1;RCH2;SRP1 OTTHUMP00000215561;OTTHUMP00000215564;RAG cohort protein 2;SRP1-beta;importin alpha 5;importin subunit alpha-1;importin subunit alpha-5;importin-alpha-S1;karyopherin subunit alpha-1;nucleoprotein interactor 1;recombination activating gene cohort 2 APPROVED protein-coding ENSG00000114030 HGNC:6394 02819 600686 REVIEWED 1344039 KPNA2 karyopherin alpha 2 (RAG cohort 1, importin alpha 1) The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination [provided by RefSeq, Jul 2008] 17 17 17 q24.2 62601848 62612972 + 66031848 66042970 + 68035732 68046854 + 1580863;6480464 10228156;10353244;10359596;10366569;10497201;10523667;10525473;10748034;10772949;10801418;10860744;10869435;10888652;10888660;10930427;10964507;10980193;11035935;11114884;11152524;11278458;11283257;11310559;11389849;11581171;11735022;11790298;11796712;11840567;11882654;11904219;11988093;12011095;12062430;12176322;12368302;12414950;12414990;12477715;12477932;12504098;12504543;12551970;12631736;12881431;12883947;12909615;12933681;14743216;14759373;15037073;15142377;15194443;15234975;15342649;15351208;15383276;15489334;15564377;15579463;15635413;15731250;15795315;15870280;15942031;16188882;16196087;1631159;16380377;16449650;16552725;16565220;16752129;16818692;16964243;17070506;17081983;17148452;17170104;17255955;17306895;17314511;17324944;17344301;17360709;17411366;17537211;17551513;17573780;17586317;17596301;17643375;17899179;18068677;18162579;18561322;18655775;18781797;19103427;19117056;19275582;19332566;19338763;19343720;19412186;19454010;19458171;19471022;19738201;19801544;19803398;19883659;19946888;19950226;19961612;20015032;20020773;20305087;20360068;20362631;20393006;20460684;20562864;20639865;2064827;20658535;20719241;20811636;20859152;21139048;21145461;21220479;21252943;21286940;21318276;21319273;21321119;21326825;21330047;21385873;21418451;21454664;21489275;21690087;21832049;21890473;21906983;21907836;21909132;21963094;21987572;21988832;22053931;22110766;22125623;22174317;22275867;22415091;22417684;22505724;22509482;22623428;22678362;22772608;22797925;22843992;22863883;22928108;22939629;22962582;23000965;23181366;23246001;23283818;23435424;23536776;23602568;23649804;23749771;23887301;23907459;24067372;24070213;24098495;24510842;24654937;24712655;24814927;24816145;24850914;7494303;7565597;7585960;7604027;7745752;7754385;7859280;8016130;8041734;8041786;8105392;8529100;8551560;8552640;8617226;8617227;8631802;8659115;8777717;8876228;8955125;9008157;9020106;9168958;9261351;9275187;9275210;9282826;9303297;9323134;9366553;9428644;9436978;9463369;9497340;9548947;9557700;9562972;9582382;9593140;9603322;9786944;9817747;9891055;9918876 3838 J3KS65;J3QL07;J3QLL0;P52292;Q7Z726 ABBA01028972;ABBA01028973;AC134407;AC145081;AJ303086;AK024833;AK058111;AK291954;AMYH02033864;BC005978;BC013257;BC034443;BC053343;BC067848;BC146905;BT006665;CH471099;NM_002266;U09559;U28386 AAA65700;AAA69957;AAH05978;AAH53343;AAH67848;AAI46906;AAP35311;ABM84694;ABM92216;BAF84643;CAC83080;EAW89040;EAW89041;NP_002257;P52292 Hs.594238 2164842;2217538 KPNA2_2720;SHGC-11874 IPOA1;QIP2;RCH1;SRP1alpha RAG cohort 1;RAG cohort protein 1;SRP1-alpha;importin alpha 1;importin alpha 2;importin subunit alpha-1;importin subunit alpha-2;importin-alpha-P1;karyopherin subunit alpha-2;pendulin APPROVED protein-coding ENSG00000182481 HGNC:6395 02818 600685 REVIEWED 1343568 KPNA5 karyopherin alpha 5 (importin alpha 6) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the importin alpha protein family and is thought to be involved in NLS-dependent protein import into the nucleus. [provided by RefSeq, Jul 2008] 6 6 6 q22.1 117745428 117806105 + 117002367 117063030 + 116681204 116741867 + 1580863;6480464;8554872 10366569;10525473;10860744;10888652;10964507;11035935;11278458;11389849;11904219;12368302;12414950;12477932;12610148;12740372;15037073;15057270;1631159;16713569;16919237;17207965;17411366;17643375;17981117;19961612;20015032;20406804;2064827;21145461;21326825;21460395;21890473;21906983;22509482;22939629;24816145;7494303;7566098;7585960;7745752;7859280;8041734;8041786;8105392;8529100;8551560;8552640;8659115;8876228;9008157;9275210;9282826;9303297;9366553;9395085;9463369;9548947;9557700;9562972;9593140;9603322;9918876 3841 H0Y3K0;O15131;Q5TD90 AA332147;ABBA01026045;AF005361;AK314206;AL132795;AL354716;AMYH02014354;AMYH02014355;BC047409;BG721781;CH471051;KF458260;NM_002269;XM_005266964;XM_006715474 AAC51868;AAH47409;ADQ32456;BAG36882;EAW48216;NP_002260;O15131;XP_005267021;XP_006715537 Hs.182971 1679173;1690202;1797802;1850372;2135022;2154813;5101453 AFM268vh5;D6S2428;KPNA5_2533;RH142657;RH27493;RH78621;RH93670 IPOA6;SRP6 OTTHUMP00000017076;importin alpha 6;importin subunit alpha-6;karyopherin subunit alpha-5 APPROVED protein-coding ENSG00000196911 HGNC:6398 05179 604545 REVIEWED 1322742 KPNA3 karyopherin alpha 3 (importin alpha 4) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009] 13 13 13 q14.3 31328396 31421989 - 50273443 50367057 - 49699307 49792921 - 1580863;6480464 10100610;10366569;10523667;10525473;10744690;10860744;10888652;10964507;11035935;11278458;11389849;11904219;12368302;12414950;12477932;12740372;14743216;14759373;15037073;15057270;15489334;15635413;15882913;16189514;1631159;16344560;16644122;16713569;17081983;17306895;17353931;17411366;17643375;17981117;19343720;19447967;19615732;19961612;20015032;20360068;20562864;2064827;21139048;21145461;21326825;21890473;21988832;22267201;22509482;22665369;22810585;22863883;22960338;22990118;23251661;23752268;24722188;24816145;25036637;7494303;7585960;7745752;7859280;8041734;8041786;8105392;8125298;8529100;8551560;8552640;8659115;8876228;9008157;9154134;9275210;9282826;9303297;9366553;9395085;9435235;9463369;9548947;9557700;9562972;9593140;9603322;9918876 3839 H0Y4S9;O00505;Q8IYQ9 ABBA01051023;ABBA01051024;ABBA01051025;AF005263;AF034756;AI309735;AK223480;AK290528;AK291000;AL135901;AL136301;AMYH02028014;AMYH02028015;AU132188;BC017355;BC024202;BC035090;CH471075;D89618;DN991804;NM_002267;Y12394 AAB87693;AAH17355;AAH24202;AAH35090;AAQ13404;ABM83570;ABM86808;BAA20378;BAD97200;BAF83217;BAF83689;CAA73026;EAX08837;EAX08838;EAX08839;NP_002258;O00505 Hs.527919 1337268;1679644;1736320;1738395;2177145;2190589;2191279;2217540;5111977;5112317;5491830 D13S273;D13S663E;D13S825E;D13S862E;EST9H12;G43604;KPNA3;KPNA3_1525;MARC_17027-17028:1023293711:3;RH103323;SHGC-2160 IPOA4;SRP1;SRP1-gamma;SRP1gamma;SRP4;hSRP1;qip2 OTTHUMP00000018426;importin alpha 4;importin alpha Q2;importin alpha-3;importin subunit alpha-3;importin subunit alpha-4;importin-alpha-Q2;karyopherin subunit alpha-3 APPROVED protein-coding ENSG00000102753 HGNC:6396 03536 601892 REVIEWED 1317369 KNTC1 kinetochore associated 1 This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 122603808 122703457 + 123011796 123110947 + 122527249 122626400 + 1580863;6480464;8554872 11146660;11590237;12477932;12686595;14702039;15824131;17353931;18065224;19468067;20360068;20379614;20677014;20696768;21139048;21890473;21906983;21963094;22863883;22939629;24255178;8724849;8889549 9735 B3KSG2;E7ES84;F5H5V0;H0YFL5;J3KQF2;P50748 AA157787;ABBA01060460;ABBA01060461;ABBA01060462;AC026333;AC127002;AI916095;AK093470;AK293403;AK303337;AMYH02027430;AMYH02027431;AMYH02027432;BC150278;CH471054;D79988;NM_014708;XM_006719706;XR_429122 AAI50279;BAA11483;BAG52724;BAG56910;BAG64400;EAW98333;EAW98334;NP_055523;P50748;XP_006719769 Hs.300559 1666182;1746301;2106765;2106767;2106769;2134735;2161163;5016368 A004D47;D12S2137;G17637;G64576;GC07S08;GC07S25;GC07S57;RH25383 FLJ36151;KIAA0166;ROD;hRod;hsROD OTTHUMP00000236760;Rough Deal homolog, centromere/kinetochore protein;kinetochore-associated protein 1 APPROVED protein-coding ENSG00000184445 HGNC:17255 09561 607363 REVIEWED 2306472 KPNA7 karyopherin alpha 7 (importin alpha 8) ENCODES a protein that exhibits protein transporter activity (inferred); INVOLVED IN cytokine-mediated signaling pathway (inferred); protein import into nucleus (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol (inferred); nucleoplasm (inferred); INTERACTS WITH dibutyl phthalate (ortholog) 7 7 7 q22.1 93500798 93534654 - 98771197 98805089 - 99173574 99209896 - 6480464;8554872 12690205;18258596;20228798;20701745;24275456 402569 A9QM74 ABBA01045693;AC073468;AMYH02016354;AMYH02016355;AW193472;CH236956;EU126604;NM_001145715;XM_006715987 A9QM74;ABW96272;EAL23884;NP_001139187;XP_006716050 Hs.253050 OTTHUMP00000205631;importin subunit alpha-8;karyopherin 7;karyopherin subunit alpha-7 protein-coding ENSG00000185467 HGNC:21839 614107 VALIDATED 1353027 KPRP keratinocyte proline-rich protein ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; genistein; aflatoxin B1 (ortholog) 1 1 1 q21.3 125808584 125812607 + 152730506 152734529 + 152758030 152762053 + 6480464;8554872 16297201;16710414;19056867;21139048;21319273;21565611;23537643 448834 Q5T749 ABBA01049425;AC246972;AL353779;AY960854;NM_001025231 AAI52832;AAX59055;NP_001020402;Q5T749 Hs.149386 1763089;1765729 SHGC-146825;SHGC-149163 C1orf45;hKPRP OTTHUMP00000014333;chromosome 1 open reading frame 45;keratinocyte expressed, proline-rich protein protein-coding ENSG00000203786 HGNC:31823 613260 PROVISIONAL 1322966 KPNA4 karyopherin alpha 4 (importin alpha 3) The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008] 3 3 3 q25.33 158639975 158705390 - 160212783 160283376 - 160494995 160565588 - 1580863;6480464;8554872 10100610;10366569;10523667;10525473;10860744;10888652;10964507;10965137;11035935;11278458;11389849;11904219;12368302;12414950;12477932;12610148;14702039;14759373;15037073;15057270;15489334;15635413;1631159;16375861;17081983;17314511;17353931;17411366;17661348;17855385;17981117;18685789;19322201;19412186;19710421;19801544;19927155;19961612;20015032;20193720;20360068;20504901;20554775;20562864;2064827;20936779;21139048;21145461;21326825;21763491;21832049;21890473;22110766;22113938;22174317;22222486;22509482;22665369;22863883;22928108;23383277;23667531;23752268;23861882;24778252;24816145;25036637;7494303;7585960;7745752;7859280;8041734;8041786;8105392;8529100;8551560;8552640;8619474;8659115;8876228;9008157;9110174;9168958;9275210;9282826;9303297;9366553;9395085;9463369;9548947;9557700;9562972;9593140;9603322;9918876 3840 H7C4F6;O00629 AB002533;ABBA01058795;ABBA01058796;AC078868;AF038199;AK021602;AK055675;AK129841;AK291041;AMYH02008020;AMYH02008021;AMYH02008022;BC007458;BC016754;BC028691;BC034493;BC052814;CH471052;NM_002268;U93240;Y12393 AAC25605;AAH07458;AAH16754;AAH28691;AAH34493;ABM81792;ABM84947;BAA19546;BAF83730;CAA73025;EAW78631;EAW78632;EAW78633;NP_002259;O00629 Hs.467866 1664964;1667269;1744277;1770091;2217542;5015861;5015879;5015961;5016478;5037552;5095830;5109281;5125895;5491893;7185938;7187493 D10S16;D15S1477;D1S1425;D6S1216E;D8S2279;GDB:314949;GDB:434012;GDB:451532;HSC0TF112;KPNA4_907.2;Kpna4;RH46490;STS-N58827;WIAF-1631 FLJ31113;IPOA3;MGC12217;MGC26703;QIP1;SRP3 OTTHUMP00000213880;importin alpha 3;importin alpha Q1;importin subunit alpha-3;importin subunit alpha-4;importin-alpha-Q1;karyopherin subunit alpha-4 APPROVED protein-coding ENSG00000186432 HGNC:6397 04275 602970 REVIEWED 737037 KPNB1 karyopherin (importin) beta 1 Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 17 17 17 q21.32 42179952 42213682 + 45726861 45762037 + 47649838 47683638 + 1580863;6480464;8554872 10037787;10202161;10209022;10228156;10353244;10366569;10367892;10397761;10473610;10523667;10525473;10668806;10749866;10772949;10779340;10811646;10822175;10846168;10860744;10888652;10929717;10944119;10951564;10965137;11024021;11032817;11035935;11257130;11266456;11278458;11283257;11297531;11310559;11311162;11323423;11389849;11401507;11751052;11971900;11984006;12011095;12062430;12095920;12135354;12176322;12368302;12414950;12477932;12504010;12551970;12614157;12764225;12783858;12894213;13679510;14600264;14718574;15037768;15047060;15194443;15231748;15282309;15297880;15342649;15383276;15388255;15489334;15494309;15572412;15795315;15851029;15864302;15870280;15889150;15964792;16115628;16196087;16226712;1631159;16314522;16344560;16354571;16380377;16552725;16704975;16982803;17053781;17110338;17148452;17172643;17314511;17370265;17537211;17573780;17596301;17609381;17620599;17643375;17646395;17661632;17855385;17916694;17938174;18028944;18029348;18051367;18162579;18238777;18258596;18398821;18445273;18655775;18854154;19056867;19117056;19149558;19156129;19275582;19322201;19454010;19596686;19738201;19765186;19801544;1985200;19884259;19925438;19946888;20015032;20085707;20360068;20462248;20547757;20603015;20639865;20658144;20711181;20811636;21081666;21139048;21145461;21209321;21278340;21319273;21321119;21326825;21401918;21625522;21630149;21832065;21890473;21900206;21906983;21963094;21965294;21987572;22020938;22053931;22125623;22145905;22174317;22178446;22190364;22222486;22268729;22321063;22355797;22415091;22417684;22422068;22442722;22500989;22509482;22586326;22623428;22863883;22939629;22952844;22990118;23000965;23012356;23022380;23125841;23184937;23246001;23277564;23438482;23444224;23538446;23557333;23602568;23798571;23862649;23874389;23906023;23956138;24132643;24398670;24457600;24583282;24654937;24712655;24816145;24821838;24854174;24953690;25027693;7559393;7615630;7627554;8105392;8576188;8617226;8617227;8692944;8896452;8909533;9045717;9102465;9135132;9144189;9214382;9261175;9275187;9275210;9323134;9366553;9398662;9405152;9430704;9435235;9436978;9463369;9562972;9582382;9621063;9670026;9687515;9817747;9891055;9891056 3837 B7Z752;J3KS06;J3KTM9;J3QKQ5;J3QR48;J3QRG4;Q14974 ABBA01041138;ABBA01041139;AC015674;AC025682;AC244084;AI076614;AK299145;AK301463;AK314780;AK316421;AMYH02033525;BC003572;BC024045;BC036703;BE046507;BQ009884;BT009797;CH471109;CS531808;DB083013;KF456283;KF570270;L38951;L39793;L39924;NM_001276453;NM_002265 AAA82869;AAC41763;AAH03572;AAH24045;AAH36703;AAP88799;ABM83789;ABM87111;BAG37316;BAH12957;BAH13488;BAH14792;CAM84939;EAW94807;EAW94808;EAW94809;EAW94810;NP_001263382;NP_002256;Q14974 Hs.532793 1668948;1677662;1713457;1797806;5119476;5124246 D11S4360;KPNB1_2429;RH119587;RH68781;SHGC-2553;STS-H47054 IMB1;IPO1;IPOB;Impnb;MGC2155;MGC2156;MGC2157;NTF97;PTAC97 OTTHUMP00000035030;importin 1;importin 90;importin beta-1 subunit;importin subunit beta-1;importin-90;karyopherin subunit beta-1;nuclear factor p97;pore targeting complex 97 kDa subunit APPROVED protein-coding HGNC:6400 04114 602738 REVIEWED 1345392 KRASP1 Kirsten rat sarcoma viral oncogene homolog pseudogene 1 (functional) 6 6 6 p12.1 56296831 56302055 + 54635272 54640504 + 54770474 54775706 + 2894641;6308466;6672765 3844 ABBA01050513;AL356782;AL512363;AMYH02013757;K01912;NG_001154 1678033;1694954;1725789;1741049;1743989 G44377;G62075;GDB:177536;GDB:384734;RH65999 KRAS1P;c-Kras1 APPROVED pseudo HGNC:6406 INFERRED 5130419 KRBOX1 KRAB box domain containing 1 ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); INTERACTS WITH benzo[a]pyrene; 4,4'-diaminodiphenylmethane (ortholog); aflatoxin B1 (ortholog) 3 3 3 p22.1 42915694 42922126 + 42977834 42984284 + 42936342 42942792 + 6480464 11181995;12477932;14702039;15489334;16344560;16641997 100506243 C9JBD0 ABBA01024760;AC092042;AC092043;AK130974;AMYH02006631;BC041820;BC062786;BC103985;BC103986;BC103987;BC118551;BC118662;CH471055;DA207522;DB458286;NM_001205272 C9JBD0;EAW64686;EAW64687;NP_001192201 Hs.720172;Hs.729533 5125044 RH94071 FLJ27464;FLJ51974;MGC141710 KRAB domain-containing protein 1;OTTHUMP00000209910;OTTHUMP00000209912 protein-coding ENSG00000240747 HGNC:38708 VALIDATED 1321189 KPTN kaptin (actin binding protein) This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014] 19 19 19 q13.32 44784164 44793281 - 47978398 47987521 - 47475141 47484264 - 1580863;6480464;8699517;7240710;8554872 10099934;11409409;12019562;12477932;1372044;14702039;15489334;16344560;17353931;21832049;23602568;24239382;8125298 11133 M0QXX4;M0QZ83;M0R238;Q9Y664 ABBA01041040;AC073548;AF105369;AF243529;AK023996;AK225419;AK298672;AMYH02036261;BC009249;BG388698;CH471126;DA129265;DA824599;DR759729;NG_034097;NM_001291296;NM_007059;NR_111923;XM_005258467 AAD39358;AAF98790;AAH09249;BAG51248;BAG60838;EAW57487;NP_001278225;NP_008990;Q9Y664;XP_005258524 Hs.25441 2114698;2167478;5017659 KPTN;SHGC-2349;STS-Z41308 2E4;MRT41 actin-associated protein 2E4;kaptin;kaptin (actin-binding protein) protein-coding ENSG00000118162 HGNC:6404 17241 615620;615637 REVIEWED 1603590 KRBA2 KRAB-A domain containing 2 ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN DNA integration (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); INTERACTS WITH arsenite(3-) 17 17 17 p13.1 8302733 8305618 - 8271973 8280027 - 8368637 8376709 - 6480464 12477932;18976975 124751 A8MX02;Q6ZNG9 ABBA01054914;ABBA01054915;AC135178;AK131219;AMYH02032923;BC024723;BC033390;NM_213597;XM_005256443;XM_006721441;XM_006721442;XM_006721443 AAH33390;AAI46331;AAI48757;BAD18406;NP_998762;Q6ZNG9;XP_005256500;XP_006721504;XP_006721505;XP_006721506 Hs.304604 5020948;5024039 D16S325;G35510 KRAB A domain containing 2;KRAB-A domain-containing protein 2;OTTHUMP00000163762 protein-coding ENSG00000184619 HGNC:26989 14028 PROVISIONAL 5508274 KRBOX1-AS1 KRBOX1 antisense RNA 1 3 3 p22.1 42913578 42916121 - 42975736 42978279 - 14702039 100506275 AC092043;AK057338;NR_122033;XR_110049;XR_112466;XR_171375 Hs.517918 FLJ32776 APPROVED ncrna HGNC:42942 VALIDATED 1315261 KPNA6 karyopherin alpha 6 (importin alpha 7) Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008] 1 1 1 p35.1 30843548 30912069 + 32573644 32642169 + 32108043 32176568 + 1580863;6480464;8554872 10366569;10523667;10525473;10801418;10822175;10860744;10888652;10964507;11035935;11278458;11389849;11751052;11904219;12368302;12414950;12477932;14702039;14743216;15037073;15342556;15489334;16298512;1631159;16344560;16713569;17306895;17353931;17643375;17981117;19270695;19322201;19946888;20360068;2064827;20936779;21139048;21145461;21383067;21697133;21890473;21906983;21963094;22174317;22275867;22770219;22863883;22928108;22939629;23000965;23752268;24778252;24816145;7494303;7585960;7745752;7859280;8041734;8041786;8105392;8529100;8551560;8552640;8659115;8876228;8955125;9008157;9275210;9282826;9303297;9366553;9395085;9463369;9548947;9557700;9562972;9593140;9603322;9918876 23633 O60684;Q5TFJ7;S4R3E5 AB621806;ABBA01023438;ABBA01023439;AF060543;AK000724;AK002111;AK128609;AK295615;AK301714;AK315490;AL049795;AL445248;AMYH02000703;AMYH02000704;AMYH02000705;AU142228;BC020520;BP374991;BT009843;CH471059;NM_012316;XM_005270711 AAC15233;AAH20520;AAP88845;ABM82513;ABM85707;BAG37874;BAG58497;BAG63185;BAK64142;EAX07567;EAX07568;EAX07569;NP_036448;O60684;XP_005270768 Hs.470588;Hs.711019 1658672;1719941;1797804;1850128;1850130;2166215;2169144;2170613;5022200;5112017 A005X47;G20585;G44365;KPNA6_1800;L18426;RH123949;RH66672;RH67781;SHGC-74528;SHGC-74534 FLJ11249;IPOA7;KPNA7;MGC17918 OTTHUMP00000004532;OTTHUMP00000009075;importin alpha 7 subunit;importin subunit alpha-7;importin-alpha-S2;karyopherin subunit alpha-6 APPROVED protein-coding ENSG00000025800 HGNC:6399 09465 610563 REVIEWED 1605393 KRCC1 lysine-rich coiled-coil 1 INTERACTS WITH 17beta-estradiol; 2-methylcholine; 5-aza-2'-deoxycytidine 2 2 2 p11.2 88430632 88459116 + 88326724 88355315 - 88027205 88055796 - 6480464 12477932;17207965;19322201;19414484;21382349;24250222 51315 Q9NPI7 ABBA01018803;AC108479;AF208845;AF217520;AK025986;AMYH02004253;AX405684;BC015927;BC107580;CH471215;EF413023;NM_016618;XM_005264360 AAF64259;AAF67631;AAH15927;AAI07581;AAY24007;ABN71577;ADQ31871;CAD34791;EAW77081;EAW77082;NP_057702;Q9NPI7;XP_005264417 Hs.469254 2124841;2135074;2140901;2141800;2179124;2187106 RH36099;RH65756;RH68031;RH70764;RH77848;RH78740 CHBP2;FLJ22333 OTTHUMP00000160832;cryptogenic hepatitis binding protein;cryptogenic hepatitis-binding protein 2;lysine-rich coiled-coil protein 1 protein-coding ENSG00000172086 HGNC:28039 11269 PROVISIONAL 1603293 KRBA1 KRAB-A domain containing 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 7 7 7 q36 144081358 144100876 + 149412061 149431664 + 149715057 149734575 + 6480464;8554872 11347906;12477932;20368287;20467438;21988832 84626 A5PL33;C9J5U6;C9JYG0;H7C501;H7C530 AACC02000041;AB058765;ABBA01033636;ABBA01033637;AC004897;AL831935;AMYH02017051;BC033229;BC041587;BC142722;BC146667;BC150330;BC152409;BU557058;CH471146;KF459639;KF510992;NG_029620;NM_001290187;NM_032534 A5PL33;AAH33229;AAH41587;AAI42723;AAI46668;AAI50331;AAI52410;BAB47491;EAL24434;EAW80035;EAW80036;EAW80037;NP_001277116;NP_115923 Hs.299560 1681704;1706206;2167772 RH44264;RH92191;SHGC-80632 KIAA1862;MGC176633 KRAB A domain containing 1;OTTHUMP00000221104;OTTHUMP00000221105 protein-coding ENSG00000133619 HGNC:22228 11167 VALIDATED 1351218 KRN1L keratin, cuticle, ultrahigh sulphur 1-like 3847 HGNC:6410 1321902 KREMEN2 kringle containing transmembrane protein 2 This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor. A similar protein in mouse functions interacts with with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 16 16 16 p13.3 3219663 3223827 + 3014217 3018384 + 2964216 2968383 + 1580863;2301921;6480464 17143291 12050670;12477932;14702039;15489334;16303743;20846389;21139048;8125298 79412 Q53F67;Q8NCW0 AB086355;AB086356;AB086357;AB086405;ABBA01026723;AC004235;AK027669;AK075033;AK223422;AK301953;AMYH02031280;BC003533;BC009383;CH471112;NM_001253725;NM_001253726;NM_024507;NM_172229 AAH03533;AAH09383;ABM87446;BAB55281;BAC00823;BAC00824;BAC00825;BAC00872;BAC11365;BAD97142;BAG63368;EAW85445;EAW85446;EAW85447;EAW85448;EAW85449;NP_001240654;NP_001240655;NP_078783;NP_757384;Q8NCW0 Hs.661128 KRM2;MGC10791;MGC16709 OTTHUMP00000159226;OTTHUMP00000159227;dickkopf receptor 2;kremen protein 2;kringle domain-containing transmembrane protein 2;kringle-containing protein marking the eye and the nose APPROVED protein-coding ENSG00000131650 HGNC:18797 13933 609899 REVIEWED 5128957 KRR1P1 KRR1, small subunit (SSU) processome component, homolog (yeast) pseudogene 1 13 13 13 1705945 1708094 - 20644127 20646276 - 20069987 20072136 - 100422486 ABBA01068574;AL137119;AMYH02027630;NG_024834 1651114 RH47132 pseudo HGNC:39580 INFERRED 1314251 KRIT1 KRIT1, ankyrin repeat containing This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] 7 7 7 q21.2 86532835 86579965 - 91828283 91875414 - 92198969 92246128 - 1358458;1598379;1580863;6480464;7240710;7349373;7364738;8699517;8554872 14755725;15079030;23719537;23860236 10508515;10545614;10747990;10814716;11161791;11161805;11342228;11741838;11831930;11854171;11914398;11941540;12140362;12172908;12204286;12477932;12682320;12690205;12724311;12810002;12821674;12853948;12877753;12911633;12925680;14594800;14702039;15046662;15489334;15718512;16037064;16239636;16321204;16373645;16529293;16712798;16769843;17043900;17148043;17290187;17440989;17562932;17568776;17657516;17916086;17954608;18300272;18812969;19088123;19088124;19092252;19182478;19199464;19453802;19454328;19833796;20301470;20306072;20308363;20379614;20419355;20689144;20798775;20884211;21029238;21633110;22577140;22699465;23317506;23485406;23584803;23695561;23814056;23872064;24007869;24058906;7604043;8530042;9285558 889 A4D1F7;C9J3W7;C9J718;C9JBN7;C9JD43;C9JD81;C9JEW7;C9JF32;C9JI47;C9JIY2;C9JJM9;C9JSG7;C9JXI9;O00522 ABBA01045806;ABBA01045807;AC000120;AF296765;AF310133;AF388384;AJ294850;AK055305;AK056537;AK226131;AL049325;AMYH02016261;AY380057;AY380058;AY380059;AY380060;AY993944;AY993945;BC094684;BQ070587;BX648659;CH236949;CH471091;NG_012964;NM_001013406;NM_004912;NM_194454;NM_194455;NM_194456;U90268;U90269;XM_005250660;XM_005250662;XM_005250663;XM_005250664;XM_005250665;XM_005250666;XM_005250667;XM_005250668;XM_005250669;XM_006716160;XM_006716161;XM_006716162;XM_006716163;XM_006716164 AAB58582;AAC01535;AAG10220;AAG47774;AAH94684;AAM19465;AAQ94072;AAQ94073;AAQ94074;AAQ94075;AAS07420;AAY25567;AAY25568;BAG51497;BAG51741;CAC17608;EAL24152;EAW76854;EAW76855;NP_001013424;NP_004903;NP_919436;NP_919437;NP_919438;O00522;XP_005250717;XP_005250719;XP_005250720;XP_005250721;XP_005250722;XP_005250723;XP_005250724;XP_005250725;XP_005250726;XP_006716223;XP_006716224;XP_006716225;XP_006716226;XP_006716227 Hs.531987 1711484;1847930;2219048;5020948 CCM1__4528;D7S535E;G35510;G49243 CAM;CCM1 OTTHUMP00000161833;OTTHUMP00000208802;OTTHUMP00000208803;OTTHUMP00000208804;ankyrin repeat-containing protein Krit1;cerebral cavernous malformations 1;krev interaction trapped 1;krev interaction trapped protein 1 APPROVED protein-coding ENSG00000001631 HGNC:1573 05020 116860;604214 REVIEWED 1607005 KRI1 KRI1 homolog (S. cerevisiae) This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 10558477 10571446 - 10663761 10676702 - 10553085 10566026 - 6480464 12477932;12878157;14702039;16169070;16344560;19240061;19471022;19615732;21139048;21282530;22586326;22990118;24250222;24255178;24778252;24816145;8889548 65095 D3YTE0;F8WFC1;H0YFD2;H0YG91;H0YH26;Q8N9T8 ABBA01029913;ABBA01029914;AC011461;AC011475;AK023011;AK025907;AK093879;AK097181;AK300780;AK300850;AL833189;AMYH02035498;AU280109;BC002890;BC009303;BC009876;BC112249;BC112251;BC143770;BM676050;CH471106;DA438802;NM_023008 AAH02890;AAH09876;AAI12250;AAI12252;AAI43771;AAI66660;BAB14357;BAB15278;BAC04240;BAG62444;BAG62501;EAW84120;EAW84121;NP_075384;Q8N9T8 Hs.709967 1676344;1793886;1797386;2137581;2148559;2152414;5022651 CDKN2D_1963;D11S2921;PMC303366P8;RH18055;RH66593;RH94334;SHGC-35402 FLJ12949 OTTHUMP00000197114;OTTHUMP00000197116;protein KRI1 homolog APPROVED protein-coding ENSG00000129347 HGNC:25769 10969 VALIDATED 1601992 KRBOX4 KRAB box domain containing 4 This encodes a zinc finger protein with an N-terminal KRAB (Kruppel-associated) domain found in transcriptional repressors. This gene is located in a region of the X chromosome thought to be involved in nonsyndromic X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] X X X p11.3 50498482 50525919 + 46306624 46334074 + 46447189 46474639 + 6480464 11944989;12477932;14702039;15489334;15772651;16344560;16385466 55634 C9J804;C9J950;Q5JUW0 ABBA01052208;ABBA01052209;ABBA01052210;ABBA01052211;ABBA01052212;ABBA01052213;AK000351;AK096413;AK097159;AK289703;AL139811;AMYH02039257;BC012569;CH471164;CS185620;DA152034;DA631861;DA877282;NG_022935;NM_001129898;NM_001129899;NM_001129900;NM_017776 AAH12569;BAA91104;BAF82392;BAG53284;CAJ42801;EAW59261;EAW59262;EAW59263;NP_001123370;NP_001123371;NP_001123372;NP_060246;Q5JUW0 Hs.632800 1685674;1686414;1698080;1778292;2155521;5020948 G35510;RH102572;RH26488;RH47775;RH65117;STS-N30728 FLJ20344;RP4-733D15.4;ZNF673 KRAB box domain-containing protein 4;KRAB domain-containing protein 4;OTTHUMP00000023183;OTTHUMP00000023184;OTTHUMP00000216114;OTTHUMP00000216115;OTTHUMP00000216116;OTTHUMP00000216117;putative zinc finger transcription factor;zinc finger family member 673;zinc finger protein 673 APPROVED protein-coding ENSG00000147121 HGNC:26007 06530 300585 REVIEWED 1314657 KRR1 KRR1, small subunit (SSU) processome component, homolog (yeast) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN rRNA processing (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intercellular bridge; membrane; nucleolus; INTERACTS WITH 17beta-estradiol; arsane; arsenic atom 12 12 12 q21.2 75558782 75572781 - 75891419 75905418 - 75497639 75511638 - 6480464;8554872 11027267;11359931;11790298;12429849;12477932;12887920;14702039;15489334;15590835;15635413;15832179;16127453;16189514;16341674;17081983;18029348;19471022;19590578;19615732;19913121;19946888;20628086;21139048;21145461;21282530;21358275;21890473;21906983;22586326;22944692;22990118;23000965;23125841;23602568;23720494;24250222;24457600;24778252;24816145;7505766;8675026 11103 Q13601 ABBA01026469;AC022507;AC121761;AK022133;AK297602;AK313687;AMYH02026775;BC005225;BC014034;BC016778;BC026107;BC033887;BM839950;CH471054;EF010919;NM_007043;U55766 AAB00557;AAH05225;AAH16778;AAH26107;AAH33887;ABJ97679;ABM84478;ABM84479;ABM84480;ABM87514;BAG36436;BAG59987;EAW97309;NP_008974;Q13601 Hs.645517 1651114;1669090;1681510;1739609;1746277;1858144;2118221;2123715;2148384;2181702;2187190;5017863 D12S1480E;G35331;G64412;KRR1;RH149;RH18004;RH46985;RH47132;RH91538;SGC32697;STS-H56474;STS-N32834 HRB2;RIP-1 HIV-1 Rev binding protein 2;HIV-1 Rev-binding protein 2;KRR-R motif-containing protein 1;KRR1 small subunit processome component homolog;OTTHUMP00000242003;OTTHUMP00000242004;Rev interacting protein;rev-interacting protein 1 protein-coding HGNC:5176 11027 612817 VALIDATED 1354394 KRT10 keratin 10 This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008] 17 17 17 q21 35635920 35640414 - 38974369 38978863 - 40818117 40822611 - 1600168;1580863;6480464;6907045;7240710;8554872;8699517 7512983 10098704;10201536;10542138;11487543;11585925;12234709;12427098;12429849;12477932;12566451;1286667;1371013;1378806;1380725;1381287;14645504;14705805;15174051;15254692;15489334;15527767;15952740;1602151;16505000;16831889;16888010;16944923;17342744;17361185;17373842;17542994;17562024;17868192;18219278;18259765;18559605;18637039;19380743;19443303;19474805;19515043;19738201;19776502;19904223;19946888;20391533;20798280;21145461;21151833;21271994;21565611;21615674;21800051;2182100;21906983;21907836;21987572;22178446;22623428;22734720;22939629;23084401;23121977;23182068;23398456;23798571;24390425;24434152;2448602;2459124;2461420;2464696;2465278;24816145;7504553;7507150;7507152;7508181;7509230;7513736;7526210;8999895;9036939;9856845 3858 P13645 ABBA01031821;AC090283;AMYH02033404;BC034697;CH471152;CU455823;J04029;L20218;L20219;M19156;M77663;NG_008405;NG_033147;NM_000421;X14487;XM_005257343 AAA59199;AAA59468;AAA60544;AAB59438;AAB59439;AAH34697;ABM84282;ABM87674;CAA32649;EAW60680;EAW60681;NP_000412;P13645;XP_005257400 Hs.99936 1663795;1683397;1742063;1742315;1742411;1742441;1850425;2107255;2144235 DXS8276;GDB:190618;GDB:196333;GDB:196685;GDB:196997;KRT10_7811;RH75831;STS-M77663;STS-X14487 BCIE;BIE;CK-10;CK10;EHK;K10;KPP OTTHUMP00000165049;cytokeratin 10;keratin, type I cytoskeletal 10;keratin-10 APPROVED protein-coding ENSG00000186395 HGNC:6413 01021 113800;148080;607602;609165 REVIEWED 7247018 KRT125P keratin 125 pseudogene 12 12 12 52775303 52775987 - 53129071 53129755 - 52735287 52735971 - 100418828 ABBA01008295;AC055716;AMYH02026500;NG_024014 pseudo HGNC:48875 INFERRED 1606053 KRT126P keratin 126 pseudogene 12 12 12 q13.13 52754153 52761818 - 53107922 53115587 - 52714138 52721803 - 15085952;16831889 643865 ABBA01008295;AC055716;AMYH02026500;BK003989;NG_005685 1340307;1758947;7187527 D12S96;SHGC-151055 KRT pseudo HGNC:32970 INFERRED 733267 KREMEN1 kringle containing transmembrane protein 1 This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12.1 13268961 13364205 + 29469066 29564321 + 29073078 29168333 + 633127;1580863;2301921;6480464 11267660;17143291 10591208;10737800;12050670;12477932;14702039;15146197;15489334;17804805;18502762;18538647;19453261;20153141;20379614;20634891;20846389;20935629;23041840 83999 H7BZ87;Q96MU8 AB059618;ABBA01055254;ABBA01055255;ABBA01055256;ABBA01055257;AI085656;AK056425;AK172861;AL021393;AL533967;AMYH02038197;AMYH02038198;BC063787;BE706705;BG743250;BX433015;BX451207;CB266010;CH471095;CN310838;NM_001039570;NM_032045;Z95116 AAH63787;BAB40969;BAB71180;BAD18817;EAW59773;EAW59774;EAW59775;NP_001034659;NP_114434;Q96MU8 Hs.229335 1339118;1686798;1747391;1747393;1747395;1747411;1747419;1778720;2156794;2180030;5014051;5014053;5015619;5037552;5109281 AFM284VA9;D11S3114;D1S1425;D1S3693;D22S1113;D22S1150;D22S991E;D8S2278;D8S2279;G65332;G65333;G65395;G65396;G65397;HSC0WE122 FLJ31863;KRM1 OTTHUMP00000028977;OTTHUMP00000164979;OTTHUMP00000198939;dickkopf receptor;kremen;kremen protein 1;kringle domain-containing transmembrane protein 1;kringle-coding gene marking the eye and the nose;kringle-containing protein marking the eye and the nose APPROVED protein-coding ENSG00000183762 HGNC:17550 11182 609898 REVIEWED 5131803 KRT127P keratin 127 pseudogene 12 12 12 52793322 52794059 - 53147095 53147832 - 52753311 52754048 - 100418779 ABBA01008295;AC055716;AMYH02026500;NG_024015 KRT3P1 APPROVED pseudo HGNC:40019 INFERRED 1346930 KRT1 keratin 1 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 52714762 52720433 - 53068520 53074191 - 52674736 52680407 - 1600166;1580863;6480464;7240710;8554872;8699517 11286616 10053007;10066772;10232403;10597140;10688370;10844506;10903910;10942575;11204562;11286630;11290596;11487543;11531804;11549596;11591653;11841545;11897493;11982762;12064938;12406346;12406348;12477932;12603866;12648226;12665801;1281859;1284546;1380725;1381288;14499622;15174051;15324660;15489334;15797458;1602151;16212417;16344560;16361731;16417221;16565220;16789827;16831889;16944923;17361108;17361185;17373842;17668073;18637039;18795921;19380743;19470048;19494018;19515043;19738201;20500210;20972266;21145461;21151833;21271994;21565611;21800051;21853274;21890473;21906983;21907836;21912905;21963094;21987572;22178446;22250628;22348822;22623428;22834809;22936677;22939629;23084401;23132931;23182068;23398456;23576398;23623204;23707440;23798571;24457600;2450142;24583282;2461420;24639526;2470667;2580302;2581964;7507151;7507152;7512983;7528239;7536183;7687781;8780679;8999895;9261168;9520414;9856846 3848 P04264 ABBA01008294;AC055716;AF237621;AF304164;AK313986;AMYH02026500;BC063697;CH471054;DB112126;HI573920;JN866515;JN866516;JN866517;JN866518;JN866519;JN866520;M10938;M98776;NG_008364;NM_006121;X69725;X69758 AAA36153;AAB47721;AAF60327;AAG41947;AAH63697;AFA52002;AFA52003;AFA52004;AFA52005;AFA52006;AFA52007;BAG36698;CBX47449;EAW96642;NP_006112;P04264 Hs.80828 1656426;1732335;1742065;2183237 D12S757;GDB:190621;RH17765;WI-17855 CK-1;CK1;EHK;EHK1;EPPK;K1;KRT1A;NEPPK 67 kDa cytokeratin;OTTHUMP00000241991;cytokeratin 1;cytokeratin-1;epidermolytic hyperkeratosis 1;hair alpha protein;keratin, type II cytoskeletal 1;type-II keratin Kb1 APPROVED protein-coding ENSG00000167768 HGNC:6412 00763 113800;139350;144200;146590;600962;607602;607654 REVIEWED 1342709 KRT14L1 keratin 14-like 1 (20kb) 1694815 3863 HGNC:6417 1353533 KRT14L2 keratin 14-like 2 (10kb) 1694815 3864 HGNC:6418 1312464 KRT12 keratin 12 KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008] 17 17 17 q12 35678983 35685022 - 39017430 39023462 - 40861178 40867210 - 1600169;1580863;6480464;7240710;8554872;8699517 9171831 10644419;10781519;12543196;12665801;15148206;16227835;16352477;16831889;17653038;18245975;18661274;19199708;19380743;20577595;21800051;21906983;21987572;22178446;23222558;23233254;23569037;24099278;24801514;24816145;8759347;9399908 3859 Q99456 AB007119;ABBA01031821;AC004231;AF137286;AK313747;AMYH02033405;CH471152;CV573989;D78367;NG_008077;NM_000223 AAF61432;AAI56642;BAA11376;BAA25063;BAG36487;EAW60685;NP_000214;Q99456 Hs.66739 2107257;2177290 KRT12_2910.2;RH46938 CK-12;K12 OTTHUMP00000164524;cytokeratin-12;keratin, type I cytoskeletal 12;keratin-12 APPROVED protein-coding ENSG00000187242 HGNC:6414 03405 122100;601687 REVIEWED 1350748 KRT14L3 keratin 14-like 3 (6.6kb) 1694815 3865 HGNC:6419 1316671 KRT14 keratin 14 This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36391486 36396102 - 39738531 39743147 - 41582279 41586895 - 1600173;1600174;1600175;1580863;6480464;7240710;8554872;8699517 15809047;16140947;1717157 10583131;10730767;10733662;10820403;10852826;10971341;11684708;11710919;11724817;11973334;12165543;12230514;12477932;12603865;12655565;12707098;12802069;12930305;14660619;14987259;15174051;15489334;15654986;15717329;15731013;15731016;16098032;16344560;16757171;16786515;16831889;16882168;16960809;17039244;1713141;17159913;1720261;17373842;17659012;17891046;18005116;18029348;18049449;18364388;18505935;18701433;18717745;18723014;19032382;19190970;19199708;19380743;19461998;19515043;19616543;19651890;19776502;19797037;19847192;19854623;20030639;20060687;20147963;20151404;20199538;20301543;20634891;20936779;21062750;21145461;21151833;21223690;21375516;21413954;21565611;21593775;21623745;21734713;21900500;21906983;21987572;21988832;22178446;22277943;22363617;22577164;22832485;22911849;22939629;23084401;23528216;24168496;2442174;2451124;24816145;2580298;6186381;6210150;7506097;7506606;7525408;7526926;7526933;7561171;7679677;7682883;7688405;8601736;8636216;8875963;9284105;9457912;9804355;9804357;9989794 3861 P02533;Q13092 ABBA01031809;AC019349;AF186085;AF186086;AF186087;AF186088;AF186089;AF186090;AMYH02033411;BC002690;BC019097;BC042437;BC094830;BT007186;CH471152;DB018715;J00124;M28646;NG_008624;NM_000526;U11076 AAA96689;AAB59562;AAF04034;AAF04035;AAF04036;AAF04037;AAF04038;AAF04039;AAH02690;AAH19097;AAH42437;AAH94830;AAP35850;ABM81659;ABM83923;ABM84831;EAW60745;EAW60746;EAW60747;EAW60748;NP_000517;P02533 Hs.654380 1298308;1335434;1342037;1742339;1744217;2134454;5023288;7185584 D17S800;D17S933;D17S934;G16019;GDB:196353;GDB:437754;SGC35551 CK-14;CK14;EBS3;EBS4;K14;NFJ OTTHUMP00000164624;cytokeratin 14;cytokeratin-14;keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner);keratin, type I cytoskeletal 14;keratin-14 APPROVED protein-coding ENSG00000186847 HGNC:6416 01017 125595;131760;131800;131900;148066;161000;601001 REVIEWED 1343206 KRT15L keratin 15-like 3867 HGNC:6422 1350330 KRT16L1 keratin 16-like 1 (16kb) 1694815;2451124 3869 HGNC:6424 1352785 KRT16L2 keratin 16-like 2 (11kb) 1694815 3870 HGNC:6425 1343343 KRT16P1 keratin 16 pseudogene 1 1281771 3871 HGNC:6426 1354100 KRT16P1 keratin 16 pseudogene 1 17 17 17 p11.2 1 731 + 18343222 18346209 + 18439908 18442895 + 729252 AK301679;AL353997;AMYH02033116;NR_073414 BAG63152 Hs.585811 5023288 G16019 FLJ56791;KRT14P;KRT16P APPROVED pseudo HGNC:6420 VALIDATED 1349257 KRT13 keratin 13 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36310464 36315096 - 39657233 39661865 - 41500981 41505613 - 1304472;1580863;6480464;7240710;8554872 7493031 10561721;10722565;11379896;11591653;11906920;12477932;1385306;1385351;14600690;14702039;15174051;15489334;16831889;16836912;16949723;17081983;18951949;19199708;19380743;19489262;19776502;20936779;21139048;21145461;21371075;21565611;21738394;22301701;23757496;24247036;2472374;2475110;2477803;2483837;6205395;8125298;9284906;9714826 3860 A1A4E9;K7EMD9;K7EMJ2;K7EQH6;K7ERE3;P13646 ABBA01031810;AC019349;AF049259;AK092276;AK223051;AK223077;AK290244;AK296806;AK309752;AMYH02033410;BC002661;BC077718;BC126184;BC136494;CH471152;DR422220;NG_008406;NM_002274;NM_153490;X14640;X52426 AAC35754;AAH02661;AAH77718;AAI26185;AAI36495;ABM81578;ABM84758;ADR83174;BAC03847;BAD96771;BAD96797;BAF82933;BAG59379;CAA32786;CAA36673;EAW60740;EAW60741;NP_002265;NP_705694;P13646 Hs.654550 1656332;1771716;2183847 D17S2048;RH18102;RH66395 CK-13;CK13;K13;MGC161462;MGC3781;WSN2 OTTHUMP00000164632;OTTHUMP00000164633;cytokeratin 13;cytokeratin-13;keratin, type I cytoskeletal 13;keratin-13 APPROVED protein-coding ENSG00000171401 HGNC:6415 01016 148065;193900;615785 REVIEWED 1345926 KRT16 keratin 16 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36419179 36422228 - 39766030 39769079 - 41609778 41612827 - 1600184;1580863;6480464;7240710;8554872;8699517 7539673 10521820;10606845;10839714;10844556;11359398;11840567;11886499;12477932;1286667;12954631;15174051;15239676;15489334;15731013;15731018;16341674;16831889;17623675;17719747;18005116;18489596;18496701;18557933;19199708;19380743;19515043;19738201;19759913;19785597;20301457;20403371;20722389;21139048;21145461;21160496;21565611;21906983;21987572;22098151;22178446;22264670;22623428;22668561;22939629;23084401;23549873;24118415;24218583;2431270;2451124;24816145;7487986;7509163;8595410;8636216 3868 K7ENV3;K7ENW6;P08779 ABBA01031808;AC130686;AF061809;AF061812;AK290853;AMYH02033411;BC039169;BM786499;CH471152;DC394235;M28432;M28433;M28434;M28435;M28436;M28437;M28438;M28439;NG_008301;NM_005557;S72493;S78514;S79867 AAA59460;AAB30058;AAB34564;AAB35421;AAC99326;AAD15829;AAH39169;ABM82233;ABM87817;BAF83542;EAW60749;NP_005548;P08779 Hs.655160 5023288;5111500 G16019;SHGC-12962 CK-16;CK16;FNEPPK;K16;K1CP;KRT16A;NEPPK;PC1 OTTHUMP00000164740;cytokeratin 16;cytokeratin-16;focal non-epidermolytic palmoplantar keratoderma;keratin, type I cytoskeletal 16;keratin-16 APPROVED protein-coding ENSG00000186832 HGNC:6423 01018 144200;148067;167200;600962;613000 REVIEWED 2859651 KRT16P5 keratin 16 pseudogene 5 17 17 p11.1 20396354 20397760 - 20493041 20494447 - 11997339 353196 AC015818;AMYH02033186;NG_002782 pseudo HGNC:37810 INFERRED 3378630 KRT16P3 keratin 16 pseudogene 3 17 17 17 p11.2 48 1250 + 20404826 20407811 - 20501513 20504498 - 12477932;16344560;21906983 644945 ABBA01002177;AC015818;AMYH02033186;BC110641;DB013784;NR_029393 Hs.572477 5023288;5111500 G16019;SHGC-12962 KERSMCR;MGC102966 pseudo ENSG00000214822 HGNC:37808 VALIDATED 1350859 KRAS Kirsten rat sarcoma viral oncogene homolog This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008] 12 12 12 p12.1 30505144 30550804 - 25358180 25403870 - 25205246 25250923 - 1581756;1581769;1600469;1581757;1581768;1600465;1600466;1600467;1600468;1600471;1600472;1600477;1600476;1600499;1581761;2314907;2314910;2314911;2314912;2314913;2314914;2314909;2314838;628557;2306732;2314836;2314915;4143515;5133242;5490965;5490966;5686410;6480464;6907045;7240710;8554872 10775052;11115351;11745231;11851621;12388314;14984964;15210703;15280162;1553789;15864294;16112461;16247081;16321859;16474404;16474405;17056636;18772397;19078924;19117991;19303097;19419940;19430562;19506583;19542870;19820367;19960433;20951313;22177953;3627975;7773929;8816895;8955068 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3845 G3V4K2;G3V5T7;I1SRC5;L7RSL8;P01116 AA812162;ABBA01068017;ABBA01068018;AC087239;AC092794;AF285779;AF493917;AI539465;AK292510;AMYH02026220;AMYH02026221;AW117295;BC010502;BC013572;BC029545;BG258021;BT007153;CD245555;CH471094;EU332849;HC464412;HC464568;HD032929;JC006857;JX512447;K03210;KF459678;L00044;L00045;L00048;L00049;M17087;M26261;M34904;M35504;M35505;M54968;NG_007524;NM_004985;NM_033360;S64261;X01228;X01669;X02825;XM_006719069 AAA35689;AAA35690;AAA36148;AAA36149;AAA36554;AAA36555;AAB41942;AAB59444;AAB59445;AAD13953;AAF91482;AAH13572;AAM12631;AAP35817;ABM81575;ABM84755;ABY87538;AGC09594;BAF85199;CAA25828;CAA26593;CBK51852;CBK51925;CBV35640;CDL93479;EAW96511;EAW96512;EAW96513;EAW96514;NP_004976;NP_203524;P01116;XP_006719132 Hs.505033 1678033;1679820;1694954;1725789;1741007;1741045;1741049;1741053;1741055;1741067;1741187;1741591;1741695;1741739;1743817;1743989;1744927;1745589;1791908;1792962;1796236;2128020;2146675;5016851;5119841 Bda12d09;G44377;G62075;GDB:177365;GDB:177517;GDB:177536;GDB:177540;GDB:177541;GDB:177572;GDB:178532;GDB:181550;GDB:182132;GDB:182546;GDB:182559;GDB:374084;GDB:384734;GDB:581120;GDB:625317;KRAS2_909;PMC130963P3;PMC17763P1;RH65999;RH80031;SHGC-33831;SHGC-64023 C-K-RAS;CFC2;K-RAS2A;K-RAS2B;K-RAS4A;K-RAS4B;KI-RAS;KRAS1;KRAS2;NS;NS3;RASK2 GTPase KRas;K-Ras 2;K-ras p21 protein;Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog;OTTHUMP00000245391;OTTHUMP00000245393;PR310 c-K-ras oncogene;c-Ki-ras;c-Kirsten-ras protein;cellular c-Ki-ras2 proto-oncogene;oncogene KRAS2;transforming protein p21;v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog;v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog APPROVED protein-coding ENSG00000133703 HGNC:6407 01817 109800;114480;115150;137215;163200;190070;211980;260350;609942;615278 REVIEWED 1353171 KRT17 keratin 17 This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008] 17 17 17 q21.2 36428841 36434031 - 39775692 39780882 - 41619440 41624630 - 1600184;1580863;6480464;7240710;8554872;8699517 7539673 10341211;10571744;11348474;11591653;11874497;11886499;12429849;12466114;12477932;12577067;1281771;1372562;14702039;14761598;15102078;15342556;15489334;15795121;16189514;16638858;16831889;1690428;16964243;17192395;17388661;17719747;17786476;18029348;18547302;18936942;19102940;19107515;19199708;19366057;19380743;19460752;19470054;19558792;19615732;19701759;19882246;20301457;20618440;20936779;21139048;21145461;21287500;21356351;21443102;21565611;21693764;21796151;21890473;21906983;21963094;21987572;22006917;22076435;22178446;22235123;22264670;22336949;22466643;22639854;22695933;22795618;22808266;22863883;22939629;23278621;23430585;23455924;23855588;24043308;24168496;24247036;24335642;24583282;24816145;7523421;7529318;7577575;9008238;9630597;9767294;9786956 3872 K7ELP7;K7EPJ9;K7ESE1;Q04695;Q14666 ABBA01031808;AC130686;AK095342;AK304373;AMYH02033411;BC000159;BC011901;BC056421;BC072018;BC072019;BP226061;BX647923;CH471152;EF608068;EF608069;EF608071;NG_008625;NG_009090;NM_000422;S78515;X05803;X62571;XM_005257349;Z19574 AAB34565;AAH00159;AAH11901;AAH56421;AAH72018;AAH72019;ABM82027;ABM85209;ABQ96595;ABQ96596;ABQ96598;BAC04534;BAG65211;CAA29248;CAA44451;CAA79626;EAW60750;EAW60751;EAW60752;EAW60753;NP_000413;Q04695;XP_005257406 Hs.2785 2190609 KRT17 39.1;CK-17;K17;PC;PC2;PCHC1 OTTHUMP00000164770;cytokeratin-17;keratin 17 epitope S1;keratin 17 epitope S2;keratin 17 epitope S4;keratin, type I cytoskeletal 17;keratin-17 APPROVED protein-coding ENSG00000128422 HGNC:6427 01019 148069;167210;184500 REVIEWED 1353793 KRT17P1 keratin 17 pseudogene 1 17 17 p11.2 16745277 16749250 - 16841963 16845936 - 11997339;1281771 147228;3873 ABBA01009769;AC022596;AMYH02033081;NG_002775 pseudo HGNC:6428 INFERRED 1352458 KRT17P2 keratin 17 pseudogene 2 17 17 p11.2 18330120 18334094 + 18426806 18430780 + 11997339;1281771 339241 AL353997;AMYH02033116;NG_002778 pseudo HGNC:6429 INFERRED 1342638 KRT15 keratin 15 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region on chromosome 17q21.2. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36323221 36328494 - 39669997 39678033 - 41513745 41521781 - 1580863;6480464;8554872 10084315;10623468;10623642;10852826;12477932;14702039;15060141;15489334;16189514;16831889;1702379;18789069;19162247;19199708;19380743;19383306;20050020;20656376;20700038;20936779;21139048;21251039;21574054;21906983;21987572;22178446;22538425;22648550;2424675;24260555;2452170;2466616;2468493;24816145;2580298;6186381 3866 A8MT21;B3KVF5;C9JTG5;K7EMX0;K7EQK9;P19012 ABBA01031810;AC019349;AF202320;AK090604;AK091239;AK122864;AK304059;AL832226;AMYH02033410;BC002641;BC110649;BT007261;CH471152;NG_012284;NM_002275;X07696;XM_005257345;XM_006721891 AAF27047;AAH02641;AAP35925;ABM83916;ABM87237;BAG52193;BAG52314;BAG53767;BAG64966;CAA30535;EAW60742;NP_002266;P19012;XP_005257402;XP_006721954 Hs.654570 1710674;2108195;2153045;2166014;5015619;5493906 D11S3114;KRT15_3016;Krt15;RH17477;SHGC-12347;SHGC-79605 CK-15;CK15;K15;K1CO OTTHUMP00000164634;OTTHUMP00000165060;OTTHUMP00000165061;cytokeratin 15;cytokeratin-15;keratin, type I cytoskeletal 15;keratin-15, basic;keratin-15, beta;type I cytoskeletal 15 APPROVED protein-coding ENSG00000171346 HGNC:6421 01009 148030 REVIEWED 2292114 KRT17P3 keratin 17 pseudogene 3 17 17 17 q11.2 25756427 25760382 - 28894778 28898859 - 30567760 30571841 - 729682 ABBA01015000;AC011840;AMYH02033275;NG_009683 1676119 RH98412 pseudo HGNC:33697 INFERRED 8661966 KRT16P6 keratin 16 pseudogene 6 17 17 17 p11.2 1193 3993 - 16721297 16725867 - 16817983 16822553 - 11997339 353194 ABBA01153205;AC022596;AMYH02033081;NG_002781 pseudo HGNC:50719 INFERRED 8662107 KRT17P5 keratin 17 pseudogene 5 FOUND IN extracellular region (inferred) 17 17 p11.2 18325495 18328647 + 18422181 18425333 + 11997339;12477932 339240 Q6ZRU5 ABBA01009727;AK127974;AL353997;AMYH02033116;BC040601;NR_001443 BAC87214;Q6ZRU5 Hs.420616 pseudo HGNC:50723 PROVISIONAL 3255328 KRT16P2 keratin 16 pseudogene 2 17 17 p11.2 16733797 16736147 - 16830483 16832833 - 400578 AC022596;AK304304;AMYH02033081;NR_029392 BAG65157 Hs.723586 5023288 G16019 FLJ53570 pseudo HGNC:37807 VALIDATED 8661913 KRT17P6 keratin 17 pseudogene 6 17 17 p11.2 20416807 20420792 - 20513494 20517479 - 11997339 284196 AC015818;AMYH02033186;NG_002776 pseudo HGNC:50724 INFERRED 8662145 KRT17P7 keratin 17 pseudogene 7 17 17 p11.2 20422386 20425541 - 20519073 20522228 - 11997339 339258 AC015818;AMYH02033186;NG_002780 pseudo HGNC:50725 INFERRED 8661967 KRT17P8 keratin 17 pseudogene 8 12 12 12 p13.31 10817445 10818224 + 9280326 9281105 + 9127730 9128509 + 100130074 ABBA01012257;AC007436;AMYH02025998;NG_021703 pseudo HGNC:50726 INFERRED 1346138 KRT18P10 keratin 18 pseudogene 10 X Y Y p11.2 92218720 92220118 + 5441130 5442529 + 5573089 5574488 + 12815422;9847074 360019 AC012667;NG_002937;NG_011652 2146914;2188181 DXYS12;G66253 pseudo HGNC:23962 INFERRED 1351883 KRT18P11 keratin 18 pseudogene 11 X X X q21.31 92218720 92220118 + 91714610 91716008 + 92459611 92461009 + 12477932 3876 ABBA01069922;AL121869;AMYH02039961;NG_005219;NG_016251 2146914;2188181 DXYS12;G66253 KRT18L1 pseudo HGNC:6431 INFERRED 1603421 KRT18P12 keratin 18 pseudogene 12 1 1 1 q41 187928901 187930280 + 214705488 214706867 + 214532145 214533524 + 643471 ABBA01048143;AL445305;AMYH02002665;NG_009710;NG_028036 pseudo HGNC:33410 INFERRED 2838287 KRT16P4 keratin 16 pseudogene 4 17 17 p11.2 18353267 18354673 + 18449953 18451359 + 11997339 339244 AL353997;AMYH02033116;NG_002779 pseudo HGNC:37809 INFERRED 1346728 KRT18P13 keratin 18 pseudogene 13 9 9 9 q22.33 70975391 70977320 + 100461154 100463083 + 97698872 97700801 + 20350937;22493691 392371 ABBA01042928;AL445531;AMYH02021310;NG_008362;NG_011642 KRT18L3 pseudo HGNC:6432 INFERRED 8662067 KRT17P4 keratin 17 pseudogene 4 17 17 p11.2 16750714 16753866 - 16847400 16850552 - 11997339 339186 ABBA01009769;AC022596;AMYH02033081;NG_002777 pseudo HGNC:50722 INFERRED 1349462 KRT18P14 keratin 18 pseudogene 14 11 11 11 p13 36028980 36030385 - 35881735 35883135 - 35860185 35861585 - 119722 ABBA01060852;AC090692;AMYH02024598;NG_007002 KRT18L4 pseudo HGNC:6433 INFERRED 1642764 KRT18P15 keratin 18 pseudogene 15 3 3 3 p22.3 32237770 32239176 + 32300375 32301781 + 32258883 32260289 + 729211 ABBA01024944;AC097639;AMYH02006493;NG_006999 KRT18L5 pseudo HGNC:32449 INFERRED 1605806 KRT18P18 keratin 18 pseudogene 18 16 16 16 q22.2 57078293 57079691 + 72762464 72763862 + 72728565 72729963 + 342374 ABBA01016805;AC004943;AMYH02032345;NG_009691 pseudo HGNC:33386 INFERRED 1605494 KRT18P16 keratin 18 pseudogene 16 5 5 5 q23.2 118927071 118928475 + 122971757 122973161 + 123636063 123637467 + 19578876 391827 ABBA01068936;AC008541;AMYH02012105;NG_009714 pseudo HGNC:33384 INFERRED 1606103 KRT18P17 keratin 18 pseudogene 17 3 3 3 p25.2 12767126 12768511 - 12828834 12830219 - 12787335 12788720 - 344866 ABBA01025191;AC034198;AMYH02006300;NG_009663 pseudo HGNC:33385 INFERRED 1349327 KRT18P1 keratin 18 pseudogene 1 6 6 6 p21.2 30542960 30544357 - 28936849 28938244 - 28969072 28970467 - 8824804 3879 ABBA01038029;AL662791;AL662865;AL929561;AMYH02013404;BX248109;BX927167;NG_001024;Z84476 dJ25J6.3 pseudo HGNC:6434 INFERRED 1606743 KRT18P20 keratin 18 pseudogene 20 12 12 12 q23.3 105035139 105036532 - 105370462 105371855 - 104976684 104978077 - 121054 ABBA01053189;AC090051;AMYH02027106;NG_009737 pseudo HGNC:33388 INFERRED 1605810 KRT18P19 keratin 18 pseudogene 19 2 2 2 q32.2 183771035 183772415 - 190175931 190177311 - 189311205 189312585 - 339781 ABBA01062377;AC118063;AMYH02005425;NG_009679 pseudo HGNC:33387 INFERRED 1346679 KRT18P2 keratin 18 pseudogene 2 21 21 21 q21.1 6968314 6969626 - 21797207 21798519 - 20424895 20426207 - 10830953 54044 ABBA01057153;AMYH02037586;AP001254;AP001679;NG_000918 pseudo HGNC:6435 INFERRED 1604238 KRT18P21 keratin 18 pseudogene 21 4 4 4 q26 114134141 114135517 + 116841813 116843189 + 115920657 115922033 + 132391 ABBA01063855;AC093657;AMYH02009967;NG_009667 pseudo HGNC:33389 INFERRED 1606351 KRT18P23 keratin 18 pseudogene 23 22 22 22 q13.31 28874702 28876084 + 44962803 44964185 + 44566923 44568305 + 642448 ABBA01017862;AL022317;AL022333;AMYH02038494;NG_009711 1653358;1670626;1708030 AL021681;AL022550;SHGC-81379 pseudo HGNC:33392 INFERRED 1603853 KRT18P24 keratin 18 pseudogene 24 9 9 9 q21.31 52229014 52230409 - 81651269 81652664 - 79036353 79037748 - 21810271 340460 ABBA01033954;AL359642;AMYH02021056;NG_009744 pseudo HGNC:33393 INFERRED 1606084 KRT18P25 keratin 18 pseudogene 25 4 4 4 p14 40460651 40462037 + 40021812 40023198 + 40020192 40021578 + 391647 ABBA01004155;AC098591;AMYH02009065;NG_009739 pseudo HGNC:33394 INFERRED 1606042 KRT18P26 keratin 18 pseudogene 26 2 2 2 p13.1 74364986 74366375 - 74533797 74535185 - 74306670 74308058 - 100418770 ABBA01075600;AC006030;AMYH02004090;NG_023569;NG_032663 pseudo HGNC:33395 INFERRED 1342636 KRT18P3 keratin 18 pseudogene 3 20 20 20 p11.21 22786720 22788123 - 22713371 22714774 - 22732733 22734136 - 170527 ABBA01016172;AL158175;AMYH02036829;NG_001043 bA359G22.1 pseudo HGNC:16540 INFERRED 1606054 KRT18P30 keratin 18 pseudogene 30 INTERACTS WITH copper(2+) sulfate 6 6 6 q14.3 86414332 86422566 + 85987143 85995378 + 85277425 85285660 + 6480464 643858 ABBA01040472;AL122016;AMYH02014034;NG_009655 1667269;1709130 D6S1216E;SHGC-85726 pseudo HGNC:33399 INFERRED 1606354 KRT18P22 keratin 18 pseudogene 22 6 6 6 q22.1 117521490 117522885 - 116778423 116779818 - 116457260 116458655 - 442252 ABBA01026046;AMYH02014353;NG_021116;Z84488 pseudo HGNC:33390 INFERRED 735767 KRT18 keratin 18 KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13 52989626 52993657 + 53342655 53346690 + 52948871 52952901 + 1624318;1580863;6480464;6907045;7240710;8699517;8554872 9011570 10022517;10444072;10625605;10747083;10791969;10809736;10852826;10891503;10954706;11162351;11278913;11356849;11581269;11684708;11788583;11917136;11923318;11955647;12191991;12235123;12388748;12429849;12473120;12477932;12577067;12707304;12717381;12724528;1374067;14556659;14648556;14968112;15102669;15194421;15231747;15314064;15316390;15339273;15368451;15489334;15493875;15529338;15731013;15731014;15822942;15831101;15838910;15952740;15987600;16046547;16143128;16189514;16212417;16424149;16831889;16836912;16892178;1693358;1699878;17034788;1705144;17353931;17361185;17542994;17545523;17617404;17685470;17891046;17954264;18000879;18029348;18038249;18349119;18432282;18460214;18577580;18705345;18712172;18941637;19032382;19087356;19199708;19246484;19249390;19282868;19302716;19357195;19378390;19407366;19419951;19447876;19529960;19575986;19585610;19615282;19615732;19639183;19727975;19738201;19755983;19770641;19891019;19927353;20035625;20109457;20309963;20334631;20362077;20372788;20374042;20398190;20538000;20618440;20634891;20659422;20729549;20936779;21062750;21119362;21139048;21145805;21195700;21357724;21420381;21460362;21548936;21565611;21682752;21705376;21877197;21890473;21906983;21963094;21987572;21988832;22178446;22191568;22304920;22412904;22623428;22677743;22699783;22853896;22863883;22890829;22939629;22967118;23000965;23045527;23154549;23164509;23326448;23327593;23341946;23398456;23438482;23449973;23536001;23752877;23767766;23784459;23792028;23801282;23864450;23945185;23990477;24067262;24157880;2422083;24324749;2434380;2434381;24457600;2454392;2454862;24583282;24660549;2469635;276901;7523419;7529764;7536183;7538124;7541767;8125298;8522590;9150948;9298992;9353322;9367879;9409741;9524113;9560222;9630597;9786957 3875 F8VZY9;P05783 ABBA01008301;AC107016;AF179904;AK129587;AK223093;AK308506;AK313988;AMYH02026504;AY762101;BC000180;BC000698;BC004253;BC008636;BC009754;BC020982;BC072017;BG753529;BT019412;CD106591;CH471054;HC921479;HD063881;L32537;NG_008351;NM_000224;NM_199187;X12876;X12881;X12883 AAA59461;AAA73889;AAH00180;AAH00698;AAH04253;AAH08636;AAH09754;AAH20982;AAH72017;AAV38219;AAX07828;ABM84641;ABM92172;BAD96813;BAG36700;CAA31369;CAA31375;CAA31377;CBU30436;CBU83085;EAW96655;EAW96656;NP_000215;NP_954657;P05783 Hs.406013 1732351;2131648;5021121;5023513;5107221;5107229;5123560 D12S764;G66074;G66248;PMC17321P1;RH71455;SHGC-11808;STS-N95819 CK-18;CYK18;K18 OTTHUMP00000242377;OTTHUMP00000242378;cell proliferation-inducing gene 46 protein;cell proliferation-inducing protein 46;cytokeratin 18;cytokeratin-18;keratin, type I cytoskeletal 18;keratin-18 APPROVED protein-coding ENSG00000111057 HGNC:6430 01020 148070;215600 REVIEWED 1603817 KRT18P32 keratin 18 pseudogene 32 1 1 1 q43 211908489 211909885 + 238654605 238656001 + 238491305 238492701 + 22310353 391179 ABBA01033201;AL359551;AMYH02002999;NG_009477 FLJ33910 pseudo ENSG00000215149 HGNC:33401 INFERRED 1604126 KRT18P33 keratin 18 pseudogene 33 2 2 2 p14 65741439 65742805 + 65893562 65894928 + 65666428 65667794 + 647162 ABBA01075451;AC007389;AC007741;AMYH02003985;NG_008761 1336333 D2S2293 pseudo HGNC:33402 INFERRED 1605789 KRT18P27 keratin 18 pseudogene 27 13 13 13 q31.3 71728020 71729426 + 90882585 90883991 + 90230331 90231737 + 390418 ABBA01027249;AL354915;AMYH02028461;NG_009656 APPROVED pseudo HGNC:33396 INFERRED 1606653 KRT18P28 keratin 18 pseudogene 28 1 1 1 q25.3 156039260 156040653 - 182928154 182929547 - 182959019 182960412 - 343326 ABBA01027757;AL450304;AMYH02002278;NG_009661 pseudo HGNC:33397 INFERRED 1606376 KRT18P35 keratin 18 pseudogene 35 3 3 3 q23 139612943 139614345 - 141189390 141190792 - 141470548 141471950 - 391584 ABBA01059048;AC010184;AMYH02007802;NG_009721 pseudo HGNC:33404 INFERRED 1605142 KRT18P31 keratin 18 pseudogene 31 5 5 5 p13.2 36772195 36773592 + 36885306 36886658 + 36885204 36886556 + 646723 ABBA01024176;AC026741;AMYH02011171;NG_006987;NG_007924 pseudo HGNC:33400 INFERRED 1606375 KRT18P34 keratin 18 pseudogene 34 3 3 3 q25.31 155304013 155305384 - 156880398 156881768 - 157162609 157163979 - 21441570 391589 ABBA01058835;ABBA01058836;AC104411;AMYH02007980;NG_009722 2187353 STS-N34441 pseudo HGNC:33403 INFERRED 1605770 KRT18P36 keratin 18 pseudogene 36 9 9 9 p21.1 30728691 30729618 - 30799856 30800783 - 30799858 30800785 - 442406 ABBA01065097;AL590726;AMYH02019391;NG_006016 pseudo HGNC:33405 INFERRED 1604431 KRT18P37 keratin 18 pseudogene 37 8 8 8 p11.21 40317824 40319191 + 41368742 41370109 + 41511223 41512590 + 392214 ABBA01021131;AC009630;AMYH02017877;NG_009658 1664095 WI-14408 pseudo HGNC:33406 INFERRED 1603490 KRT18P39 keratin 18 pseudogene 39 2 2 2 q33.2 198383808 198385192 - 204628956 204630355 - 203764233 203765632 - 344462 ABBA01062618;AC010138;AC125238;AMYH02005602;NG_008329 pseudo HGNC:33408 INFERRED 1605774 KRT18P38 keratin 18 pseudogene 38 6 6 6 p22.3 20851043 20852445 + 19612919 19614321 + 19612688 19614090 + 441133 ABBA01022244;AL022068;AMYH02013238;NG_009671 1647370;1708548;1709274;2154887;2168219;2190395 D6S1946;G17063;HSC236_(EPM2B-5);RH37428;SHGC-81801;SHGC-85053 pseudo HGNC:33407 INFERRED 1351868 KRT18P4 keratin 18 pseudogene 4 20 20 20 q13.13 45277804 45279190 + 48573236 48574624 + 49956699 49958087 + 391256 ABBA01052763;AL031685;AMYH02037220;NG_001044 dJ963K23.1 pseudo HGNC:16604 INFERRED 1604437 KRT18P40 keratin 18 pseudogene 40 19 19 19 p12 20978776 20981143 + 21143864 21146231 + 20961058 20963425 + 390904 ABBA01051363;AC008739;AMYH02035797;NG_008363 pseudo HGNC:33409 INFERRED 1604472 KRT18P41 keratin 18 pseudogene 41 5 5 5 q35.1 165599520 165600907 - 169567608 169568995 - 170140604 170141991 - 345430 ABBA01044101;AC008660;AMYH02012714;NG_009684 1336195;1698368;7185462 D5S397;RH102725 pseudo HGNC:33411 INFERRED 1605495 KRT18P42 keratin 18 pseudogene 42 5 5 5 q21.3 104862832 104864200 + 108923990 108925361 + 109588289 109589660 + 19578876 391819 ABBA01069089;AC114287;AMYH02011957;NG_009708 2110855 D5S122 pseudo HGNC:33412 INFERRED 1604228 KRT18P43 keratin 18 pseudogene 43 3 3 3 q26.2 168020001 168021386 - 169620701 169622086 - 169902913 169904298 - 151825 ABBA01058701;AC008040;AMYH02008103;NG_009654 pseudo HGNC:33413 INFERRED 1605496 KRT18P45 keratin 18 pseudogene 45 5 5 5 q14.1 75485546 75486987 + 79584219 79585660 + 80288400 80289841 + 391803 ABBA01062033;AC026410;AMYH02011661;NG_009703 pseudo HGNC:33415 INFERRED 1605288 KRT18P44 keratin 18 pseudogene 44 INTERACTS WITH arsenous acid; diarsenic trioxide X X X q25 128237299 128238680 + 127848434 127849808 + 128714456 128715830 + 6480464 139748 ABBA01047716;AL031903;AMYH02040455;CH471107;KF459393;NG_008310 EAX11838 1659763;1670196;1694302;1748105;1857173;2115591;5019855;5092582;5092600 C031XF5;DXS7368;DXS7776;DXS7792;G42846;G54524;G54534;G54546;G65813 pseudo HGNC:33414 INFERRED 1606643 KRT18P46 keratin 18 pseudogene 46 2 2 2 q24.2 156046782 156048161 + 162436539 162437918 + 161580029 161581408 + 391458 ABBA01004888;AC062022;AMYH02005091;CH471058;NG_009012 EAX11366 pseudo HGNC:33416 INFERRED 1605192 KRT18P47 keratin 18 pseudogene 47 15 15 15 q26.1 65904261 65905652 + 89502951 89504342 + 88959720 88961111 + 390634 ABBA01053004;AC067805;AMYH02031015;NG_009743 pseudo HGNC:33417 INFERRED 1603493 KRT18P48 keratin 18 pseudogene 48 X X X q28 153102371 153104300 - 152868676 152870605 - 153603221 153605150 - 340598 AF274858;AMYH02040838;NG_006017 1680489;2145940 D5S2645;SHGC-67772 pseudo HGNC:33418 INFERRED 1603466 KRT18P49 keratin 18 pseudogene 49 X X X q22.3 107143223 107144116 + 106671857 106672750 + 107428627 107429520 + 392516 ABBA01035891;AL035088;AMYH02040213;NG_008327 2141573;2159581;2170655;2174594 AL022461;DXS7663;DXS7667;UniSTS:62823 pseudo HGNC:33419 INFERRED 1345001 KRT18P5 keratin 18 pseudogene 5 22 22 22 q11.21 4323751 4325158 - 20837035 20838442 - 20482748 20484155 - 728300 ABBA01015454;AC007731;AMYH02038077;NG_007006 pseudo HGNC:19259 INFERRED 1605788 KRT18P51 keratin 18 pseudogene 51 4 4 4 q31.21 142821272 142822026 + 145493390 145494144 + 144572238 144572992 + 9847074 391703 ABBA01070017;AC106871;AMYH02010242;NG_007562 pseudo HGNC:33421 INFERRED 1606356 KRT18P50 keratin 18 pseudogene 50 INTERACTS WITH arsenous acid; diarsenic trioxide 6 6 6 q16.1 97080097 97081426 + 96438974 96440277 + 95991098 95992401 + 6480464 442236 ABBA01014529;AL034348;AMYH02014154;CH471051;NG_008361 EAW48513 pseudo HGNC:33420 INFERRED 4109154 KRT18P52 keratin 18 pseudogene 52 2 2 2 31890480 31891303 - 32047663 32048505 - 31822594 31823436 - 100418769 ABBA01074858;AL121652;AMYH02003531;AMYH02003532;NG_021498 2151332 SHGC-74553 pseudo HGNC:37888 INFERRED 7247300 KRT18P57 keratin 18 pseudogene 57 1 1 1 p13.2 110437471 110438840 - 112190850 112192219 - 111648228 111649597 - 643329 ABBA01068399;AL049557;AL139012;AMYH02001728;NG_022732 pseudo HGNC:48884 INFERRED 1605243 KRT18P55 keratin 18 pseudogene 55 INTERACTS WITH 17beta-estradiol; hydrogen peroxide 17 17 17 q11.2 23464746 23496144 - 26603012 26634408 - 28275986 28307382 - 6480464 12477932;14702039;16751776;20379614;24256812 284085 Q8N7Q0 ABBA01015060;ABBA01015061;ABBA01015062;AC061975;AK097823;AMYH02033220;AMYH02033221;BC112026;BC112028;CH471159;DQ597097;NR_028334 AAI12027;AAI12029;BAC05178;EAW51066 Hs.371796 5107221 G66074 FLJ40504;MGC138231;MGC138233 APPROVED pseudo ENSG00000265480 HGNC:26874 08284 PROVISIONAL 7247304 KRT18P58 keratin 18 pseudogene 58 11 11 11 p15.4 6134687 6139665 - 6015050 6016439 - 5993820 5995209 - 644030 ABBA01028658;AC111177;AMYH02024264;NG_029277 pseudo HGNC:48885 INFERRED 7247305 KRT18P59 keratin 18 pseudogene 59 11 11 11 q24.2 122143090 122144794 + 124983450 124984815 + 125113554 125114919 + 399965 ABBA01031248;AMYH02025733;AP001007;NG_029288 pseudo HGNC:48886 INFERRED 7247294 KRT18P60 keratin 18 pseudogene 60 12 12 12 65477957 65479359 - 65812447 65813805 - 65418667 65420025 - 100418829 ABBA01026587;AC079948;AMYH02026673;NG_024029 pseudo HGNC:48887 INFERRED 7247302 KRT18P62 keratin 18 pseudogene 62 22 22 22 q11.21 3097113 3098497 + 19245041 19246384 + 19257518 19258861 + 100287635 ABBA01005421;AC000094;AMYH02038037;NG_022875;NG_033805 pseudo HGNC:48889 INFERRED 7247297 KRT18P61 keratin 18 pseudogene 61 17 17 17 57988356 57989759 + 58887476 58888879 + 60810115 60811518 + 100418865 ABBA01035396;AC079005;AMYH02033730;NG_026259 pseudo HGNC:48888 INFERRED 7247295 KRT18P63 keratin 18 pseudogene 63 4 4 4 p15.31 18378227 18379647 + 17913247 17914667 + 17911624 17913044 + 100288868 ABBA01032617;AC079399;AMYH02008828;NG_015822;NG_022049 pseudo HGNC:48890 INFERRED 7247306 KRT18P65 keratin 18 pseudogene 65 6 6 6 q21 113423867 113425251 - 112682585 112683969 - 112361383 112362767 - 442249 ABBA01026077;AL365214;AMYH02014311;NG_022320 pseudo HGNC:48892 INFERRED 4890232 KRT18P54 keratin 18 pseudogene 54 4 4 4 133627233 133627975 - 136292335 136293077 - 135371180 135371922 - 100418792 ABBA01044891;AC108867;AMYH02010152;NG_025165 pseudo HGNC:39425 INFERRED 7247307 KRT18P66 keratin 18 pseudogene 66 9 9 9 p21.1 30702252 30703639 + 30773461 30774805 + 30773463 30774807 + 442405 ABBA01065097;AL590726;AMYH02019391;NG_021643 pseudo HGNC:48893 INFERRED 1354362 KRT18P6 keratin 18 pseudogene 6 14 14 14 q13.2 15844844 15846212 - 35980973 35982341 - 35511767 35513135 - 122592 ABBA01061507;AL160231;AMYH02029009;NG_007005 pseudo HGNC:20280 INFERRED 7247299 KRT18P68 keratin 18 pseudogene 68 X X X p11.3 50034719 50035827 + 45842750 45843804 + 45983315 45984369 + 139060 ABBA01052155;AL031585;AMYH02039254;NG_029275 pseudo HGNC:48895 INFERRED 1346931 KRT18P8 keratin 18 pseudogene 8 18 18 18 p11.22 9562205 9562561 - 9678239 9678595 - 9678242 9678598 - 125242 ABBA01049954;AMYH02034292;AP000902;NG_006995 pseudo HGNC:31093 INFERRED 1350297 KRT18P7 keratin 18 pseudogene 7 14 14 14 q24.2 51125172 51126566 + 71061219 71062609 + 70594502 70595892 + 100418877;338019 ABBA01030812;AL357153;AMYH02029452;NG_027387 pseudo HGNC:20283 INFERRED 1343332 KRT18P9 keratin 18 pseudogene 9 6 6 6 p21.31 35711910 35713319 + 34157509 34158918 + 34189732 34191141 + 442205 ABBA01038172;AL354740;AMYH02013505;NG_006996 bA513I15.2 pseudo HGNC:17767 INFERRED 1605772 KRT19P1 keratin 19 pseudogene 1 6 6 6 q13 72688217 72689590 + 72294363 72295736 + 71584660 71586033 + 441160 ABBA01040282;AL354933;AMYH02013884;NG_009680 pseudo HGNC:33422 INFERRED 1604118 KRT18P29 keratin 18 pseudogene 29 2 2 2 q31.3 176421601 176422977 - 182825876 182827252 - 181961149 181962525 - 729050 ABBA01062291;AC009962;AMYH02005362;NG_009484 pseudo HGNC:33398 INFERRED 7247308 KRT18P67 keratin 18 pseudogene 67 9 9 125599831 125601170 + 122837552 122838891 + 100631239 ABBA01043717;AL359512;AMYH02021594;NG_029269 pseudo HGNC:48894 INFERRED 1605853 KRT19P2 keratin 19 pseudogene 2 12 12 12 q22 94899423 94900057 + 95228230 95228804 + 94834454 94835028 + 160313 A0A4R5 AB041269;AB041270;ABBA01053356;AC117494;AMYH02026960;NR_036685;U85961 BAA94609;BAA94610 Hs.527883 KRT19P5 pseudo ENSG00000216306 HGNC:33423 VALIDATED 1606625 KRT19P3 keratin 19 pseudogene 3 4 4 4 q25 108093952 108094785 - 110800226 110801059 - 109879070 109879903 - 442114 ABBA01063785;AC005509;AMYH02009902;NG_009651 pseudo HGNC:33424 INFERRED 7240979 KRT19P4 keratin 19 pseudogene 4 10 10 10 q21.3 63294660 63295876 + 70020074 70021290 + 68260317 68261533 + 100128041 ABBA01019557;AC016395;AMYH02023250;NG_022181 pseudo HGNC:45073 INFERRED 733914 KRT19 keratin 19 The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36333093 36337867 - 39679869 39684641 - 41523617 41528389 - 1580863;6480464;8554872 10037815;10212274;10444072;10623642;10809736;10859317;11682035;12477932;12697249;12820323;1286667;14556657;14593079;14761598;15342556;15489334;15716612;15737616;15825149;15870932;15952740;16000376;16083285;16189514;16324274;16344560;16627685;16681689;16736556;16804977;16831889;16879391;16892178;16965897;17071045;17450257;17492378;17509943;17558891;17652531;17697728;17728499;17851895;17955299;18059224;18080980;18095993;18308654;18329483;18394347;18409152;18451221;18559605;18571761;18577250;18602664;18646695;18705345;18833815;18941637;19032382;19087608;19157505;19166031;19185580;19199708;19265690;19380743;19383302;19549321;19574886;19585610;19615732;19623181;19738201;19776502;19849844;19863186;19926583;20050020;20146580;20198455;20204403;20350214;20398190;20538416;20586026;20586028;20723431;20803149;20854102;20920982;20936779;21062750;21070384;21104440;21151833;21159246;21190722;21262401;21270756;21319197;21397974;21427448;21663668;21704007;21705376;21738394;21800051;21804393;21906983;21938557;21976532;21987572;22041857;22045674;22088515;22178446;22253524;22513207;22535608;22555942;22623428;22648550;22989467;22990361;22997967;22999061;23084401;23135478;23171677;23203004;23269585;23352032;23377137;23398456;23408492;23455924;23468917;23585313;23591159;23686805;23728094;23758804;23810363;23824909;23833298;23879483;23886796;23900865;23905896;23909079;23958557;23992005;24178178;24219598;2428612;24457600;2447559;2448790;24583282;2458477;2468493;2469734;24816145;7534649;8661035;9284906;9505886 3880 C9JM50;K7EMS3;P08727 AB041267;AB041268;ABBA01031810;AC019349;AF202321;AK313261;AMYH02033410;AMYH02033411;BC002539;BC007628;BC010409;BC067744;BC084574;BG490639;BG750971;BP328445;CH471152;DA068330;HC921481;HD063883;J03607;NG_012285;NM_002276;Y00503 AAA36044;AAF27048;AAH02539;AAH07628;AAH10409;AAH67744;AAH84574;ABM83105;ABM86299;BAA94607;BAA94608;BAG36071;CAA68556;CBU30437;CBU83086;EAW60743;NP_002267;P08727 Hs.654568 1684528;1793506 PMC22705P1;RH71340 CK-19;CK19;K19;K1CS;MGC15366 40-kDa keratin intermediate filament;OTTHUMP00000164620;cytokeratin 19;cytokeratin-19;keratin, type I cytoskeletal 19;keratin, type I, 40-kd;keratin-19 APPROVED protein-coding ENSG00000171345 HGNC:6436 01007 148020 REVIEWED 1342754 KRT2 keratin 2 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 52684582 52692199 - 53038342 53045959 - 52644558 52652175 - 1600192;1580863;6480464;7240710;8554872;8699517 7524919 10084318;10233306;10233323;10564334;10620137;10688369;11167982;11531804;12477932;12598329;1380918;15489334;15527767;15737202;15949009;16831889;17361185;17373842;17408392;18029348;19199708;19380743;19738201;19946888;20946988;20972266;21145461;21151833;21565611;21853274;21890473;21906983;21907836;21963094;21987572;22178446;22612346;22939629;23084401;23398456;23798571;24390425;24457600;24639526;7521371;8077693;8999895;9036938;9204966;9804344;9833038 3849 P35908 ABBA01008293;AC055715;AC055716;AF019084;AL598277;AMYH02026500;BC096294;BC099643;BC099644;CH471054;M99061;NG_008296;NM_000423 AAB81946;AAC83410;AAH96294;AAH99643;AAH99644;EAW96641;NP_000414;P35908 Hs.707 1732337;1796238;2168464;5117114 D12S1896;D12S758;GDB:437550;KRT2A_890 CK-2e;K2e;KRT2A;KRT2E;KRTE;MGC116967;MGC116968 OTTHUMP00000241990;cytokeratin-2e;epidermal ichthyosis bullosa of Siemens;epithelial keratin-2e;keratin, type II cytoskeletal 2 epidermal;keratin-2 epidermis;keratin-2e;type-II keratin Kb2 APPROVED protein-coding ENSG00000172867 HGNC:6439 02560 146800;600194 VALIDATED 1347381 KRT20 keratin 20 The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35693699 35703063 - 39032141 39041495 - 40875889 40885243 - 1580863;2317676;6480464;8554872 10931219 10973561;11279113;11642721;11844829;11857318;11962749;12477932;12515621;12636102;12857878;12894563;12954496;14631371;15371952;15489334;15871722;16083285;16189514;16286979;16344560;16362976;16473461;16608857;16722930;16831889;1696264;17240035;17378731;17525485;17593078;18029348;18069772;18072261;18092953;18246436;18265645;18387990;18587323;18705345;18804101;18813128;19074466;19098678;19119477;19145500;19188603;19287335;19645077;19664394;19724850;19893584;19914229;20395351;20574624;20936779;21106111;21282015;21574103;21677534;21775107;21938557;22073364;22119824;22178446;22237712;22268990;22348416;22361037;22414974;22677992;22752373;22895272;23150200;23322277;23558939;24025523;24403457;7689500;8359595 54474 P35900 ABBA01031821;AC004231;AK312744;AMYH02033405;BC031559;CH471152;DA426874;DB242980;NG_012286;NM_019010;X73501;X73502;XM_005257464;XM_005277792 AAH31559;ABM81709;ABM87753;BAG35614;CAA51913;CAA51914;EAW60686;NP_061883;P35900;XP_005257521;XP_005277849 Hs.84905 1851831;2158567 D17S1996;RH18130 CD20;CK-20;CK20;K20;KRT21;MGC35423 OTTHUMP00000164518;cytokeratin 20;cytokeratin-20;keratin, type I cytoskeletal 20;keratin-20;protein IT APPROVED protein-coding ENSG00000171431 HGNC:20412 12193 608218 REVIEWED 1342839 KRT22 keratin 22 3154 HGNC:6437 1606170 KRT222 keratin 222 ENCODES a protein that exhibits structural molecule activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intermediate filament (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; cyclosporin A 17 17 17 q21.2 35473458 35483002 - 38811872 38821416 - 40655620 40665164 - 6480464;8554872 12477932;14702039;15085952;16831889;23455924 125113 J3QQR9;Q8N1A0 ABBA01031823;AC073508;AK308598;AMYH02033403;BC032815;BK004052;BX538083;CH471152;CV570846;DB465511;DB543411;NM_152349 AAH32815;ACE86603;ACE86787;ACE87284;ACE87473;CAD98007;DAA04486;EAW60672;EAW60673;NP_689562;Q8N1A0 Hs.6920 1851751;2133706;2161280;2167612 A004H08;D17S1519E;D17S2038;NIB470 KA21;KRT222P;MGC45562 OTTHUMP00000164530;OTTHUMP00000164531;keratin 222 pseudogene;keratin-222 pseudogene;keratin-like protein KRT222;truncated type I keratin KA21 protein-coding ENSG00000213424 HGNC:28695 11354 VALIDATED 1602018 KRT223P keratin 223 pseudogene 17 17 17 q21.2 35535346 35539738 - 38873792 38878184 - 40717540 40721932 - 16831889 643115 ABBA01031822;AC090283;AMYH02033403;NG_009669 pseudo HGNC:32968 INFERRED 1318841 KRT23 keratin 23 (histone deacetylase inducible) The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 17 17 17 q21.2 35740521 35755408 - 39078948 39093895 - 40922696 40937643 - 1580863;6480464;8554872 10737800;11135429;11683385;12015898;12477932;14702039;15081423;16344560;16831889;18676680;19170196;19383294;19625176;19692168;19893584;20936779;21139048;21492476;23682078;24039993;8125298 25984 J3QR55;K7EPI0;Q8TC04;Q9C075;Q9UFN7 AA649738;ABBA01031820;AC004231;AF102848;AK002047;AK225866;AK289449;AK302109;AK310880;AK314604;AL117538;AMYH02033405;BC028356;CH471152;CV373638;DA846104;HY044844;NG_012287;NM_001282433;NM_015515;XM_005257200;XM_005277791 AAH28356;AAK00050;ABM82566;ABM85755;BAA92054;BAF82138;BAG37174;BAH13628;CAB55984;EAW60687;EAW60688;EAW60689;NP_001269362;NP_056330;Q9C075;XP_005257257;XP_005277848 Hs.9029 1657505;1657634;1684666;2173082;2217544 G27718;KRT23_2937;RH76378;STS-W38159;WI-18066 CK-23;CK23;DKFZp434G032;HAIK1;K23;MGC26158 OTTHUMP00000164533;cytokeratin 23;cytokeratin-23;histone deacetylase inducible keratin 23;hyperacetylation-inducible type I keratin;keratin, type I cytoskeletal 23;keratin-23;type I intermediate filament cytokeratin APPROVED protein-coding ENSG00000108244 HGNC:6438 05863 606194 REVIEWED 1349415 KRT24 keratin 24 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jun 2009] 17 17 17 q21.2 35515802 35521547 - 38854243 38860002 - 40697991 40703750 - 6480464 12230514;12477932;16831889;17317818;18029348;19380743;21145461 192666 Q2M2I5 ABBA01031822;AC090283;AK000268;AMYH02033403;BC111964;BC111968;CH471152;NG_012417;NM_019016;XM_006721739 AAI11969;BAA91044;EAW60675;NP_061889;Q2M2I5;XP_006721802 Hs.87383 1683104;2217546 KRT24_2966;RH91917 CK-24;FLJ20261;K24;KA24;MGC138169;MGC138173 OTTHUMP00000164527;cytokeratin-24;keratin, type I cytoskeletal 24;keratin-24;type I keratin-24 APPROVED protein-coding ENSG00000167916 HGNC:18527 09668 607742 REVIEWED 1353851 KRT25 keratin 25 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35565821 35573131 - 38904273 38911584 - 40748021 40755332 - 1580863;6480464;8554872 15085952;15617563;16831889;20379614;21139048;22178446 147183 Q6ZPD6;Q7Z3Z0 ABBA01031822;AC090283;AJ564204;AK129503;AMYH02033403;CH471152;NG_012414;NM_181534;XM_005257088 AAI40409;AAI46489;BAC85169;CAD91904;EAW60676;NP_853512;Q7Z3Z0;XP_005257145 Hs.55412 1729231 G62214 CK-25;K25;K25A;KRT25A OTTHUMP00000164528;OTTHUMP00000164529;cytokeratin-25;keratin 25A;keratin, type I cytoskeletal 25;keratin-25;keratin-25A;type I inner root sheath specific keratin 25 irs1;type I inner root sheath-specific keratin-K25irs1 APPROVED protein-coding ENSG00000204897 HGNC:30839 17242 REVIEWED 1343053 KRT26 keratin 26 The protein encoded by this gene is a member of the keratin superfamily. This keratin protein is a type I keratin that is specific for the inner root sheath of the hair follicle. This gene exists in a cluster with other keratin genes on chromosome 17q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35584037 35589958 - 38922490 38928411 - 40766238 40772159 - 1580863;6480464 12477932;15617563;16831889;16874310;21800051 353288 Q7Z3Y9 ABBA01031821;AC090283;AJ564205;AMYH02033403;BC132951;BC136896;CH471152;NG_012487;NM_181539;XM_005257307;XM_006721864 AAI32952;AAI36897;CAD91905;EAW60677;NP_853517;Q7Z3Y9;XP_005257364;XP_006721927 Hs.592133 CK-26;CK26;K25B;K25IRS2;K26;KRT25B OTTHUMP00000164525;cytokeratin-26;keratin 25B;keratin, type I cytoskeletal 26;keratin-25B;keratin-26;type I inner root sheath specific keratin 25 irs2;type I inner root sheath-specific keratin-K25irs2 APPROVED protein-coding ENSG00000186393 HGNC:30840 17243 REVIEWED 1345701 KRT27 keratin 27 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35594607 35600333 - 38933060 38938786 - 40776808 40782534 - 1580863;6480464 10329736;11591653;15617563;15629149;16831889 342574 Q7Z3Y8 ABBA01031821;AC090283;AF086481;AJ564206;AMYH02033403;CH471152;NG_012418;NM_181537 AAI66634;CAD91906;EAW60678;NP_853515;Q7Z3Y8 Hs.59363 CK-27;K25C;K27;KRT25C OTTHUMP00000164526;cytokeratin-27;keratin 25C;keratin, type I cytoskeletal 27;keratin-25C;keratin-27;type I inner root sheath specific keratin 25 irs3;type I inner root sheath-specific keratin-K25irs3 APPROVED protein-coding ENSG00000171446 HGNC:30841 17244 REVIEWED 1319917 KRT28 keratin 28 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35609995 35617758 - 38948448 38956211 - 40792196 40799959 - 1580863;6480464;8554872 15617563;16831889;21800051;22178446 162605 Q7Z3Y7 ABBA01031821;AC090283;AJ564207;AK129827;AMYH02033404;CH471152;NG_012419;NM_181535 AAI46369;AAI48795;BAC85240;CAD91907;EAW60679;NP_853513;Q7Z3Y7 Hs.59736 1751087 SHGC-105006 CK-28;K25D;K28;KRT25D OTTHUMP00000164517;cytokeratin-28;keratin 25D;keratin, type I cytoskeletal 28;keratin-25D;keratin-28;type I inner root sheath specific keratin 25 irs4;type I inner root sheath-specific keratin-K25irs4 APPROVED protein-coding ENSG00000173908 HGNC:30842 17245 REVIEWED 1353879 KRT3 keratin 3 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 52829698 52836121 - 53183469 53189892 - 52789685 52796108 - 1580863;7240710;6480464;8554872;8699517 15737194;16227835;16831889;18806880;19380743;20972266;21139048;21145461;21890473;21906983;21963094;21987572;22178446;22939629;23569037;2439698;6186379;7510223;8889548;9171831 3850 P12035 ABBA01008295;AC107016;AJ628418;AK314987;AMYH02026501;BM672628;CH471054;CV571376;NG_008350;NM_057088;X05418;X05419;X05420;X05421;XM_005268859;XM_006719392;XM_006719393 AAI56126;AAI72453;CAA28991;CAA28992;CAA28993;CAA28994;CAA28995;CAA28996;CAF31522;EAW96645;EAW96646;NP_476429;P12035;XP_005268916;XP_006719455;XP_006719456 Hs.680652 1651994;2152957 RH18078;RH18079 CK-3;CK3;FLJ95909;K3 65 kDa cytokeratin;OTTHUMP00000242121;cytokeratin 3;cytokeratin-3;keratin, type II cytoskeletal 3;type-II keratin Kb3 APPROVED protein-coding ENSG00000186442 HGNC:6440 01013 122100;148043 REVIEWED 1315199 KRT31 keratin 31 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36203187 36207055 - 39549976 39553844 - 41393724 41397592 - 1580863;6480464;8554872 10391933;12477932;15140206;16713569;16831889;17353931;19615732;19738201;21145461;2465162;7528047;7578244;7686952;9405442;9457912;9756910 3881 Q15323;Q16275 ABBA01031811;AC003958;AC207056;AK313419;AMYH02033410;BC114468;CH471152;NG_012288;NM_002277;S75797;X86570;XM_005257351;XM_005276944;Y16787 AAB32812;AAI14469;CAA60378;CAA76383;EAW60730;NP_002268;Q15323;XP_005257408;XP_005277001 Hs.41696 2159390 STS-X86570 HA1;Ha-1;K31;KRTHA1;MGC138630;hHa1 OTTHUMP00000164621;hair keratin, type I Ha1;hard keratin, type I, 1;keratin, hair, acidic,1;keratin, type I cuticular Ha1;keratin-31 APPROVED protein-coding ENSG00000094796 HGNC:6448 03047 601077 REVIEWED 1313247 KRT32 keratin 32 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36268990 36276862 - 39615765 39623638 - 41459513 41467386 - 1580863;6480464;8554872 10391933;12543931;16831889;17353931;19380743;2456239;7556444;7686952;8823373 3882 Q14532 ABBA01031810;AC019349;AI190798;AMYH02033410;CH471152;NG_012424;NM_002278;X81419;X90761 AAI46287;AAI48741;CAA57179;CAA62284;EAW60735;NP_002269;Q14532 Hs.41752 2185182;2219876 KRTHA2__6358;STS-X81419 HA2;HKA2;K32;KRTHA2;hHa2 OTTHUMP00000164628;hair keratin, type I Ha2;hard keratin, type I, 2;keratin, hair, acidic, 2;keratin, type I cuticular Ha2;keratin-32;type I cuticular hair keratin APPROVED protein-coding ENSG00000108759 HGNC:6449 04134 602760 REVIEWED 1314759 KRT33A keratin 33A This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012] 17 17 17 q21.2 36155587 36160272 - 39502344 39507064 - 41346092 41350812 - 1580863;6480464;8554872 10391933;12477932;15617563;16831889;17353931;7565656;7686952;9756910 3883 O76009 ABBA01031811;AC003958;AJ633621;AK314088;AMYH02033410;BC069135;CH471152;NG_012289;NM_004138;X82650;Y16788 AAH69135;BAG36784;CAA76384;CAG17613;EAW60727;NP_004129;O76009 Hs.512579 1700716 RH103983 HA3I;Ha-3I;K33A;KRTHA3A;Krt1-3;hHa3-I OTTHUMP00000164630;hair keratin, type I Ha3-I;hard keratin, type I,3I;keratin, hair, acidic, 3A;keratin, type I cuticular Ha3-I;keratin-33A APPROVED protein-coding ENSG00000006059 HGNC:6450 04135 602761 REVIEWED 1346723 KRT33B keratin 33B This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012] 17 17 17 q21.2 36172962 36179263 - 39519746 39526052 - 41363494 41369800 - 1580863;6480464 10391933;11359384;12477932;14718574;15489334;15617563;16831889;17353931;19380743;19615732;21139048;21145461;21565611;23455924;7565656;7686952;9756910 3884 Q14525 ABBA01031811;AC003958;AMYH02033410;BC009971;CH471152;NG_012290;NM_002279;X82634;Y16789 AAH09971;ABM84378;ABM87285;CAA57956;CAA76385;EAW60728;NP_002270;Q14525 Hs.32950 1772532 SGC35567 HA3II;Ha-3II;K33B;KRTHA3A;KRTHA3B;hHa3-II OTTHUMP00000164627;hair keratin, type I Ha3-II;hard keratin, type I, 3II;keratin, hair, acidic, 3B;keratin, type I cuticular Ha3-II;keratin-33B;type I hair keratin 3B APPROVED protein-coding ENSG00000131738 HGNC:6451 04136 602762 REVIEWED 1350893 KRT34 keratin 34 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36187136 36191851 - 39533921 39538636 - 41377669 41382384 - 1580863;6480464;8554872 10391933;12477932;16286979;16831889;17353931;19380743;19615732;22790218;2431943;7686952;9756910 3885 O76011 ABBA01031811;AC003958;AC207056;AMYH02033410;BC033252;BC041070;CH471152;NG_012291;NM_021013;Y16790 AAH33252;AAH41070;CAA76386;EAW60729;NP_066293;O76011 Hs.296942 1688893;2182611;2219878 KRTHA4__6359;RH99021;SHGC-57298 HA4;Ha-4;K34;KRTHA4;hHa4 OTTHUMP00000164635;hair keratin, type I Ha4;hard keratin, type I, 4;keratin, hair, acidic, 4;keratin, type I cuticular Ha4;keratin-34 APPROVED protein-coding ENSG00000131737 HGNC:6452 04137 602763 REVIEWED 1354440 KRT35 keratin 35 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36286163 36290612 - 39632941 39637392 - 41476689 41481140 - 1580863;6480464;8554872 10391933;15140206;16831889;17353931;18021261;19380743;19615732;21139048;7686952;8823373;9756910 3886 C4AM86;Q92764 ABBA01031810;AC019349;AMYH02033410;CH471152;NG_012292;NM_002280;X90762;X90763;Y16791 AAI40366;AAI46509;CAA62285;CAA62286;CAA76387;EAW60736;EAW60737;NP_002271;Q92764 Hs.73082 2156139;2219880 KRTHA5__6360;STS-X90762 HA5;Ha-5;K35;KRTHA5;hHa5 HHa5 hair keratin type I intermediate filament;OTTHUMP00000164623;hair keratin, type I Ha5;hard keratin, type I, 5;keratin, hair, acidic, 5;keratin, type I cuticular Ha5;keratin-35 APPROVED protein-coding ENSG00000197079 HGNC:6453 04138 602764 REVIEWED 1314039 KRT36 keratin 36 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36295609 36299337 - 39642388 39648799 - 41486136 41492546 - 1580863;6480464 10391933;12477932;16831889;17081983;17353931;19380743;19615732;21145461;21832049;7686952;7979242;9756910 8689 O76013 ABBA01031810;AC019349;AMYH02033410;BC043581;CH471152;NG_012293;NM_003771;XM_005257762;Y16792 AAH43581;CAA76388;EAW60738;EAW60739;NP_003762;O76013;XP_005257819 Hs.248189 HA6;K36;KRTHA6;hHa6 OTTHUMP00000164629;OTTHUMP00000166116;hair keratin, type I Ha6;keratin, hair, acidic, 6;keratin, type I cuticular Ha6;keratin-36 APPROVED protein-coding ENSG00000126337 HGNC:6454 05174 604540 REVIEWED 1346996 KRT37 keratin 37 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36230021 36234322 - 39576809 39580822 - 41420557 41424570 - 1580863;6480464;8554872 10391933;15617563;16831889;19380743;7686952;9756910 8688 O76014;Q6ZW03 ABBA01031810;AC003958;AJ786655;AMYH02033410;CH471152;NG_012294;NM_003770;Y16793 AAI40320;CAA76389;CAH10350;EAW60731;EAW60732;EAW60733;NP_003761;O76014 Hs.673852 2219882 KRTHA7__6361 HA7;K37;KRTHA7;hHa7 OTTHUMP00000164972;hair keratin, type I Ha7;keratin, hair, acidic, 7;keratin, type I cuticular Ha7;keratin-37 APPROVED protein-coding ENSG00000108417 HGNC:6455 05175 604541 REVIEWED 1350539 KRT38 keratin 38 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36245857 36250831 - 39592621 39597596 - 41436369 41441344 - 1580863;6480464;8554872 10391933;12477932;15248378;15617563;16831889;19380743;7686952;9756910 8687 O76015 ABBA01031810;AC019349;AJ786656;AMYH02033410;BC131715;CH471152;NG_012295;NM_006771;Y16794 AAI31716;CAA76390;CAH10351;EAW60734;NP_006762;O76015 Hs.248188 2219884 KRTHA8__6362 HA8;K38;KRTHA8;hHa8 OTTHUMP00000164638;hair keratin, type I Ha8;keratin, hair, acidic, 8;keratin, type I cuticular Ha8;keratin-38 APPROVED protein-coding ENSG00000171360 HGNC:6456 05176 604542 REVIEWED 1604916 KRT39 keratin 39 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35776241 35784715 - 39114669 39123144 - 40958417 40966892 - 6480464 12477932;15085952;15617563;16831889;17301834 390792 J3QRE9;Q6A163 ABBA01031819;AC004231;AC007455;AC037482;AJ786657;AMYH02033406;BC157887;BC171907;BK004054;CH471152;NG_012415;NM_213656 AAI57888;AAI60073;CAH10352;DAA04487;EAW60690;NP_998821;Q6A163 Hs.28467 CK-39;K39;KA35 OTTHUMP00000164622;cytokeratin-39;keratin, type I cytoskeletal 39;keratin-39;type I hair keratin KA35 APPROVED protein-coding ENSG00000196859 HGNC:32971 13750 REVIEWED 1342912 KRT4 keratin 4 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 52846566 52854610 - 53200327 53207900 - 52806543 52814116 - 1600193;1580863;6480464;7240710;8554872;8699517 7493030 10652003;11132762;12477932;12828738;14702039;15489334;16831889;1689954;17709412;18992023;19380743;19460752;19468300;19468302;19515043;19615732;20562859;21139048;21145461;21371075;21498718;22178446;23182699;2433356;2452170;24550385;2466616;7684424;9452892;9727005 3851 B4DRS2;F8VX05;F8VZR6;P19013 ABBA01008295;AC107016;AF066051;AK056254;AK098110;AK296582;AK299394;AK299400;AK299451;AK307941;AMYH02026501;AW082111;AY043326;BC003630;BC012867;BC032132;BC042174;CH471054;DR423040;NG_007380;NM_002272;X07695;X61028;X67683;X97566 AAC34807;AAH03630;AAH32132;AAH42174;AAL14196;ACE86926;ACE87613;BAG59202;BAG61379;BAG61384;BAG61423;CAA30534;CAA43362;CAA47914;EAW96647;NP_002263;P19013 Hs.654610;Hs.731814 1732333;1775230;2178741 D12S756;RH18084;RH18127 CK-4;CK4;CYK4;FLJ31692;K4;WSN1 OTTHUMP00000242122;cytokeratin 4;cytokeratin-4;keratin, type II cytoskeletal 4;type-II keratin Kb4 APPROVED protein-coding ENSG00000170477 HGNC:6441 00478 123940;193900 REVIEWED 1606169 KRT40 keratin 40 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35795581 35804999 - 39133968 39143387 - 40977716 40987135 - 12477932;14702039;15085952;15617563;16831889;17301834 125115 G3V1C2;Q6A162 ABBA01031819;AC007455;AC037482;AJ786658;AK093919;AMYH02033406;BC130396;BC144250;BC150174;BC150191;BK004055;CH471152;NG_012412;NM_182497;XM_005257054;XM_005277788 AAI30397;AAI44251;AAI50175;AAI50192;ADR83001;BAC04250;CAH10353;DAA04488;EAW60691;EAW60692;NP_872303;Q6A162;XP_005257111;XP_005277845 Hs.534929 1661106;1761089;1857759;2107239;2220344;2220640 D17S1193;D17S1194;KA36__6499;SHGC-145068;UniSTS:480451;UniSTS:486954 CK-40;FLJ36600;K40;KA36 OTTHUMP00000164963;cytokeratin-40;keratin, type I cytoskeletal 40;keratin-40;type I hair keratin KA36 APPROVED protein-coding ENSG00000204889 HGNC:26707 08304 REVIEWED 1348786 KRT41P keratin 41 pseudogene 17 17 17 q21.2 36215503 36222163 - 39562291 39568951 - 41406039 41412699 - 16831889;9756910 8686 ABBA01031810;AC003958;AMYH02033410;NG_029330;Y16795 HHaA;KRTHAP1 keratin, hair, acidic, pseudogene 1;phihHaA pseudo HGNC:6457 INFERRED 1604961 KRT42P keratin 42 pseudogene 17 17 17 q21.2 36435728 36449308 - 39782579 39796451 - 41626327 41640199 - 6480464 14702039;16831889 284116 Q6ZU61 ABBA01006460;ABBA01031807;ABBA01031808;AC130686;AK095281;AK125965;AMYH02033411;NG_009090;NR_033415 BAC86365 Hs.725790 pseudo ENSG00000214514 HGNC:27581 VALIDATED 7247006 KRT43P keratin 43, pseudogene 17 17 17 36257938 36258880 - 39604714 39605656 - 41448462 41449404 - 100418861 ABBA01031810;AC019349;AMYH02033410;NG_026184 pseudo HGNC:48870 INFERRED 1343872 KRT5 keratin 5 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 52554605 52560489 - 52908359 52914328 - 52514575 52520459 - 1600195;1600196;1580863;6480464;7240710;8554872;8699517 1372711;7507402 10234505;10383750;10494094;10727209;10730767;10782015;10852826;10903910;11167681;11407988;11407989;11591653;11973334;12466114;12477932;12648226;12655565;12707098;12802069;1284070;12925204;1378478;14702039;14723728;15140024;15174051;15324323;15347343;15489334;15618924;15647384;15731013;15731015;16098032;16152605;16465624;16757171;16786515;16831889;16882168;17039244;1713141;1718160;1720261;17229601;17388661;17549391;17650314;17855059;17975119;18035671;18064689;18261623;18499686;18662989;18833821;19023099;19102940;19156550;19199708;19220453;19267394;19278431;19366057;19380743;19430419;19461998;19529775;19578363;19605815;19616543;19651890;19675450;19691749;19720911;19738201;19797037;19847192;19882246;19946888;20030639;20055872;20060687;20085233;20128788;20151404;20189848;20199538;20222933;20301543;20665103;20877624;20923750;20936779;20972266;21062750;21080425;21144712;21145461;21164283;21365123;21375516;21427063;21490615;21565611;21569119;21890473;21900500;21906983;21963094;21987572;22161089;22178446;22277943;22437315;22553810;22639907;22640275;22832485;22939629;23011826;23075894;23084401;23184698;23327593;23450297;23588208;23708665;23798571;24238509;24326984;24403052;2447486;2455002;2456903;24583282;24639526;24658685;2476664;7506097;7520042;7525601;7534039;7537780;7679677;7684424;7686424;7688477;8636216;8757772;8799157;8807337;8999895;9036937;9129237;9406827;9740251;9786957;9804357;9989794 3852 F8VU69;F8VV57;F8W0C6;H0YI76;H0YIN9;P13647 ABBA01008292;AC055736;AF274874;AK093720;AK296823;AK303972;AK310827;AMYH02026499;AY373434;BC024292;BC042132;BC071906;CH471054;D50666;M19723;M21389;M28496;NG_008297;NM_000424;S56203 AAA36143;AAA36145;AAD14917;AAF97931;AAH24292;AAH42132;AAH71906;AAQ81588;ABM83772;ABM87091;BAA09320;BAG59394;BAG64893;EAW96632;EAW96633;EAW96634;EAW96635;NP_000415;P13647 Hs.433845 1732339;1779284;2129743;2137558;2137804 D12S2098;D12S759;RH77823;SHGC-153281;STS-D29027 CK-5;CK5;DDD;DDD1;EBS2;K5;KRT5A 58 kda cytokeratin;OTTHUMP00000241816;cytokeratin-5;epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types;keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types);keratin, type II cytoskeletal 5;type-II keratin Kb5 APPROVED protein-coding ENSG00000186081 HGNC:6442 01010 131760;131800;131900;131960;148040;179850;601001;609352 REVIEWED 1346482 KRT6A keratin 6A The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014] 12 12 12 q13.13 52527198 52533425 - 52880958 52887181 - 52487174 52493397 - 1580863;6480464;7240710;8554872 11886499;12477932;15174051;15489334;15731013;15731017;15737194;16189514;16344560;16831889;1713141;17650314;17719747;18489596;19199708;19380743;19416275;19699613;19720911;19806570;19946888;20140871;20301457;20403371;20470930;20972266;21145461;21554383;21565611;21890473;21906983;21963094;21987572;22098151;22178446;22264670;22623428;22668561;23006328;23075894;23398456;23455924;24326984;24457600;24639526;6191871;7525601;7543104;7545493 3853 P02538 ABBA01008292;AC055736;AK290245;AK299386;AK299428;AK301686;AMYH02026499;BC008807;BC014152;BC069269;BC125058;BC139753;BG059253;BT006899;CH471054;DA451441;L42575;L42576;L42577;L42578;L42579;L42580;L42581;L42582;L42583;L42593;L42601;NG_008298;NM_005554;V01516 AAC41767;AAC41769;AAH08807;AAH14152;AAH69269;AAI25059;AAI39754;AAP35545;AAP36273;ABM84714;ABM92236;BAF82934;BAG61372;BAG61408;BAG63158;CAA24760;EAW96631;NP_005545;P02538 Hs.700779 1714495;1732343;1747991;2107259;2135585;2158202;2165809;2182788 D12S1938;D12S761;G64265;KRT6A_7810;RH119759;RH17580;RH17657;SHGC-35512 CK6A;CK6C;CK6D;K6A;K6C;K6D;KRT6C;KRT6D;PC3 KDAMP;OTTHUMP00000241634;cytokeratin 6A;cytokeratin 6C;cytokeratin 6D;kamp-keratin derived antimicrobial peptide;keratin, epidermal type II, K6A;keratin, type II cytoskeletal 6A;type-II keratin Kb6 APPROVED protein-coding ENSG00000205420 HGNC:6443 01011;17246 148041;167200;615726 REVIEWED 1349887 KRT6B keratin 6B The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 52486679 52492154 - 52840435 52845910 - 52446651 52452126 - 1580863;6480464;7240710 12477932;1284199;1286667;15174051;15489334;16189514;16831889;1713141;19199708;19380743;19720911;20301457;20972266;21145461;21565611;21800051;21890473;21906983;21963094;21987572;22178446;22264670;23075894;23084401;23455924;2410904;2470667;7543104;9618173 3854 P04259 ABBA01008292;AC055736;AK296729;AMYH02026499;BC034535;BG679927;CH471054;HI519564;L00205;L42584;L42585;L42586;L42587;L42588;L42589;L42590;L42591;L42592;L42612;M11229;NG_008299;NM_005555 AAA59466;AAC41768;AAC41771;AAH34535;ABM82253;ABM85437;BAG59316;CBX54363;EAW96626;EAW96627;NP_005546;P04259 Hs.708950 1732345;1797808;1851105 D12S762;KRT6B_1646;RH17408 CK-6B;CK6B;K6B;KRTL1;PC2;PC4 OTTHUMP00000241630;cytokeratin 6B;cytokeratin-6B;keratin, epidermal, type II, K6B;keratin, type II cytoskeletal 6B;keratin-6B;keratin-like 1 (a type II keratin sequence);type-II keratin Kb10 APPROVED protein-coding ENSG00000185479 HGNC:6444 01012 148042;167210;615728 REVIEWED 1351268 KRT6C keratin 6C Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009] 12 12 12 q13.13 52508540 52513809 - 52862300 52867569 - 52468516 52473785 - 1580863;6480464;8699517;7240710;8554872 11683385;12477932;16541075;16831889;19380743;19609311;20081885;20085233;20972266;21145461;21565611;21890473;21906983;21963094;21987572;23662636;7543104;9054461 286887 P48668 ABBA01008292;AC055736;AK299478;AK313239;AMYH02026499;BC110639;BC130583;BC130585;BK000962;CH471054;L42611;NG_012416;NM_173086 AAC41770;AAI10640;AAI30584;AAI30586;BAG36050;BAG61442;DAA01484;EAW96628;EAW96629;NP_775109;P48668 Hs.709234 CK-6C;CK-6E;K6C;K6E;KRT6E;MGC102925;MGC163455;MGC163457;PPKNEFD OTTHUMP00000241633;cytokeratin-6C;cytokeratin-6E;keratin 6E;keratin K6h;keratin, type II cytoskeletal 6C;keratin-6C;type-II keratin Kb12 APPROVED protein-coding ENSG00000170465 HGNC:20406 17247 612315;615735 REVIEWED 1347673 KRT6D keratin 6D q12-q13 1580863 16831889;7543104 140466 L42610 AAB60696 CK6D;K6D protein-coding HGNC:20405 1322014 KRT7 keratin 7 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 51429401 51445152 + 52626954 52642709 + 52233170 52248925 + 1580863;2317439;2317307;2317308;6480464 18393293;19260470;8570173 10492017;11169732;11591653;11840567;11888936;11962749;12072504;12359226;12477932;12577067;14513050;14631371;15231748;15371952;15489334;15489654;15502805;15782174;15894926;16483709;16831889;16879391;17081983;1713141;17388661;17593078;17715023;18029348;18042078;18092953;18317225;18478571;18602664;18604734;18936968;18949396;19032382;19098678;19157505;19302533;19396034;19419944;19601945;19614771;20001343;20043065;20398190;20538416;20557372;20574624;20727680;20849852;21139048;21228364;21282015;21358552;21574103;21681009;21884201;21890473;21906983;21963094;21987572;22053931;22119824;22178446;22203179;22268990;22304920;22361037;22382985;22390404;22505724;22716237;22863883;22895272;22939629;23434146;23455924;23590728;23887291;2415537;2436934;24403459;2459129;24816145;24908142;8125298;8895530;9614373;9734130 3855 P08729 ABBA01031629;ABBA01031630;AC021066;AF509887;AF509891;AF509892;AJ238246;AK025881;AK128505;AK128848;AK129924;AK225498;AMYH02026499;BC002700;BC009521;BC042076;BC107082;BC107083;BE740515;BE744321;BU527162;CH471111;NG_012296;NM_005556;X03212;X13320;XR_245927;Z36852 AAH02700;AAH09521;AAI07083;AAI07084;AAN64031;AAN64035;ABM83922;ABM87243;BAG54741;CAA26956;CAA31695;CAB41416;EAW58240;EAW58241;NP_005547;P08729 Hs.411501;Hs.670221 1338710;1732349;1757139;1759391;2156818;2217548;5022200;5022578;7185372 D12S368;D12S763;D1S1423;KRT7_2779;L18426;SGC33015;SHGC-144573;SHGC-150981 CK-7;CK7;K2C7;K7;MGC129731;MGC3625;SCL OTTHUMP00000241595;OTTHUMP00000241596;cytokeratin 7;cytokeratin-7;keratin, 55K type II cytoskeletal;keratin, simple epithelial type I, K7;keratin, type II cytoskeletal 7;keratin-7;sarcolectin;type II mesothelial keratin K7;type-II keratin Kb7 APPROVED protein-coding ENSG00000135480 HGNC:6445 01014 148059 REVIEWED 1604251 KRT71 keratin 71 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009] 12 12 12 q13.13 52583937 52593175 - 52937693 52946931 - 52543909 52553147 - 6480464;8554872 11982755;12477932;12648212;14702039;16831889;21139048;21145461;21890473;21906983;21963094;21987572;22592156;23084401 112802 Q3SY84 ABBA01008293;AC055736;AJ308599;AJ308600;AJ308601;AK122795;AMYH02026499;BC103917;BC103918;CH471054;NG_012426;NM_033448 AAI03918;AAI03919;ACE87776;ACT64442;BAG53733;CAC43429;EAW96636;NP_258259;Q3SY84 Hs.660007 1682579 RH99054 CK-71;HYPT13;K6IRS1;K71;KRT6IRS;KRT6IRS1;MGC119390;MGC119391;hK6irs;hK6irs1 OTTHUMP00000236990;cytokeratin-71;keratin 6 irs;keratin, type II cytoskeletal 71;keratin-71;type II inner root sheath-specific keratin-K6irs1;type-II keratin Kb34 APPROVED protein-coding ENSG00000139648 HGNC:28927 09745 608245;615896 REVIEWED 1605869 KRT72 keratin 72 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009] 12 12 12 q13.13 52625614 52641566 - 52979373 52995322 - 52585589 52601538 - 6480464;8554872 11703281;12477932;12648212;14702039;16831889;17388661;20189848;21139048;21890473;21906983;21963094;21987572;22553810;9630597 140807 B4DXK4;H0YHD9;H0YIG3;Q14CN4 ABBA01008293;AC055715;AK093060;AK293645;AK302016;AMYH02026499;AY033495;AY033496;BC113686;BX089867;CH471054;HC007066;NG_012427;NM_001146225;NM_001146226;NM_080747 AAI13687;AAK55108;AAK55109;ADR83208;BAC04039;BAG57099;BAG63416;CBH19338;EAW96638;EAW96639;NP_001139697;NP_001139698;NP_542785;Q14CN4 Hs.662013 1732331;2219844 D12S766;K6IRS2__6498 CK-72;K6IRS2;K6irs;K72;KRT6;KRT6IRS2;MGC142246 OTTHUMP00000241984;OTTHUMP00000241985;cytokeratin-72;keratin 6, inner root sheath, 2;keratin protein K6irs;keratin, type II cytoskeletal 72;keratin-72;type II inner root sheath-specific keratin-K6irs2;type-II keratin Kb35 APPROVED protein-coding ENSG00000170486 HGNC:28932 09746 608246 REVIEWED 1605236 KRT73 keratin 73 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009] 12 12 12 q13.3 52647597 52658586 - 53001354 53012343 - 52607570 52618559 - 6480464;8554872 12477932;12648212;16831889;19199708;19380743;21139048;21800051;21890473;21906983;21963094;21987572 319101 H0YIC5;Q86Y46 ABBA01008293;AC055715;AJ508776;AMYH02026499;BC109212;CH471054;NG_012319;NM_175068 AAI09213;CAD48513;EAW96640;NP_778238;Q86Y46 Hs.55410 2150392 SHGC-57111 CK-73;IRT6IRS3;K6IRS3;K73;KRT6IRS3;MGC129635;MGC129636 OTTHUMP00000241988;OTTHUMP00000241989;cytokeratin-73;keratin 6 irs3;keratin, type II cytoskeletal 73;keratin-73;type II inner root sheath-specific keratin-K6irs3;type-II keratin Kb36 APPROVED protein-coding ENSG00000186049 HGNC:28928 16304 608247 REVIEWED 7969377 KRT73-AS1 KRT73 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 12 12 12 q13.13 52640727 52654089 + 53003635 53009089 + 52609851 52615305 + 8554872 100127967 ABBA01008293;AC055715;AK128146;AMYH02026499;HG504779;NR_126005;XR_245985;XR_247820;XR_253063 Hs.689466 RP11-641A6.2 ncrna ENSG00000257495 HGNC:49607 VALIDATED 1605882 KRT74 keratin 74 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009] 12 12 12 q13.13 52605846 52613853 - 52959603 52967609 - 52565819 52573825 - 7240710;6480464;8554872;8699517 11683385;12648212;14968112;16831889;17975119;19023099;20346438;20379614;21188418;21565611;21890473;21906983;21963094;21987572 121391 F8W1S1;Q7RTS7 ABBA01008293;AC055715;AF086480;AI092341;AJ508777;AMYH02026499;BK000977;CH471054;NG_012321;NM_175053 AAI60050;CAD48514;DAA00404;EAW96637;NP_778223;Q7RTS7 Hs.660125 1697036;1776018 RH101995;SHGC-57352 ADWH;CK-74;HTSS2;HYPT3;K5C;K6IRS4;K74;KRT5C;KRT6IRS4 OTTHUMP00000241822;OTTHUMP00000241823;cytokeratin-74;keratin 5c;keratin 6 irs4;keratin, type II cytoskeletal 74;keratin-5c;keratin-74;type II inner root sheath-specific keratin-K6irs4;type-II keratin Kb37 APPROVED protein-coding ENSG00000170484 HGNC:28929 10504 194300;608248;613981 REVIEWED 1603409 KRT75 keratin 75 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008] 12 12 12 q13 52464010 52474265 - 52817854 52828110 - 52424070 52434326 - 6480464;7240710;8554872 10692104;11939812;15086549;15292489;16831889;18499686;19366057;19380743;19614992;21145461;21427063;21890473;21906983;21963094;21987572;22178446;23084401;24550385;24639526;8125298;9856802 9119 O95678 ABBA01008292;AC055736;AK225962;AK298960;AMYH02026499;CH471054;NG_008403;NM_004693;Y17282;Y19212 AAI60175;BAG61056;CAA76730;CAB76832;EAW96625;NP_004684;O95678 Hs.697046 1757797;2219842 K6HF__6497;SHGC-146541 CK-75;K6HF;K75;KB18;PFB;hK6hf OTTHUMP00000241629;cytokeratin type II;cytokeratin-75;keratin, type II cytoskeletal 75;keratin-6 hair follicle;keratin-75;type II keratin-18;type II keratin-K6hf;type-II keratin Kb18 APPROVED protein-coding ENSG00000170454 HGNC:24431 11057 609025;612318 REVIEWED 1605387 KRT76 keratin 76 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009] 12 12 12 q13.13 52808167 52817357 - 53161939 53171129 - 52768155 52777345 - 6480464;8554872 1282112;15737194;16831889;18029348;19380743;20972266;21145461;21890473;21906983;21963094;21987572 51350 Q01546 ABBA01008295;AC068988;AC139763;AJ564103;AK299390;AMYH02026500;CH471054;M99063;NG_012420;NM_015848 AAA35746;AAI67839;BAG61375;CAD91891;EAW96644;NP_056932;Q01546 Hs.654392 1774336;2121860 D12S1935;G15846 CK-2P;HUMCYT2A;K2P;K76;KRT2B;KRT2P OTTHUMP00000242120;cytokeratin 2;cytokeratin-2P;keratin 2p;keratin, type II cytoskeletal 2 oral;keratin-76;type-II keratin Kb9 APPROVED protein-coding ENSG00000185069 HGNC:24430 17123 REVIEWED 1352886 KRT77 keratin 77 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009] 12 12 12 q13.13 52729653 52743480 - 53083396 53097247 - 52689612 52703463 - 1580863;6480464;8554872 11683385;12477932;15737194;16117782;16541075;16831889;17353931;19380743;19615732;20972266;21139048;21145461;21890473;21906983;21963094;21987572;24639526 374454 F8VS61;Q0IIN1;Q7Z794 ABBA01008295;AC055716;AJ564104;AMYH02026500;BC033366;BC118598;BC122558;BK000975;CH471054;NG_012322;NM_175078;XM_005268853 AAI18599;AAI22559;CAD91892;DAA00402;EAW96643;NP_778253;Q7Z794;XP_005268910 Hs.334989 1699260;2142171 RH103212;STS-AA025411 CK-1B;K1B;K77;KRT1B;MGC148087 OTTHUMP00000241148;cytokeratin-1B;keratin 1B;keratin, type II cytoskeletal 1b;keratin-77;type-II keratin Kb39 APPROVED protein-coding ENSG00000189182 HGNC:20411 13934 611158 REVIEWED 1606944 KRT78 keratin 78 This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 52879026 52889058 - 53231588 53242778 - 52837804 52848994 - 6480464 10692104;11683385;11792552;14702039;15085952;15737194;16344560;16831889;17353931;19199708;19380743;21139048;21145461;21565611;21800051;21890473;21963094;21987572;2433356;24583282 196374 B4DQ49;F8VS93;H0YI54;Q8N1N4 ABBA01008295;AC107016;AI143912;AK096419;AK290901;AK298636;AMYH02026501;BK000646;BX647095;CH471054;DA667429;NG_012297;NM_001300814;NM_173352;XM_005268695;XM_005268696 AAI41555;BAC04782;BAF83590;BAG60811;CAI46001;DAA00377;EAW96649;EAW96650;NP_001287743;NP_775487;Q8N1N4;XP_005268752;XP_005268753 Hs.665267 CK-78;K5B;K78;Kb40 OTTHUMP00000242361;OTTHUMP00000242362;cytokeratin-78;keratin 5b;keratin, type II cytoskeletal 78;keratin-5b;keratin-78;type-II keratin Kb40 APPROVED protein-coding ENSG00000170423 HGNC:28926 17171 611159 REVIEWED 1602275 KRT79 keratin 79 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009] 12 12 12 q13.13 52861510 52874357 - 53215231 53228077 - 52821447 52834293 - 6480464;8554872 11683385;12477932;15737194;19199708;19380743;19615732;21890473;21906983;21963094;21987572;22178446;23382074;23824909;24198274;24639526 338785 H0YID6;Q5XKE5 ABBA01008295;AC107016;AJ564105;AK130156;AMYH02026501;BC039148;BC063648;BK000976;CH471054;NG_012323;NM_175834 AAH39148;AAH63648;CAD91893;DAA00403;EAW96648;NP_787028;Q5XKE5 Hs.711471 CK-79;FLJ26646;K6L;K79;KRT6L OTTHUMP00000242359;cytokeratin-79;keratin 6-like;keratin 6L;keratin, type II cytoskeletal 79;keratin-6-like;keratin-6L;keratin-79;type-II keratin Kb38 APPROVED protein-coding ENSG00000185640 HGNC:28930 11183 611160 REVIEWED 735536 KRT8 keratin 8 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 12 12 12 q13 52937521 52945403 - 53290971 53343650 - 52897187 52949866 - 1600062;1580863;6480464;7240710;8699517;8554872 11372009 10791969;10809736;10852826;10954706;11076863;11581269;11684708;11781324;11788583;11790298;11923318;12168793;12218095;12235123;12366696;12367790;12388748;12429849;12474161;12477932;12577067;12724528;12868678;12938929;1371500;1374067;14556659;14568682;14756564;15090596;15194421;15235035;15248378;15252834;15314064;15319370;15368451;15489334;15489336;15529338;15731013;15737616;15822942;15838910;15846844;15952740;15972820;16000376;16083285;16143128;16169070;16212417;16327287;16341674;16344560;16381901;16565220;16608857;16818723;16831889;16892178;1690513;1691124;16911694;1692965;16944923;16964243;17034788;17039343;1705144;17081983;1711732;17126832;17213200;17353931;17373842;17509943;17685470;17954264;18236071;18343496;18353540;18432282;18497550;18577580;18725232;18941637;18953437;19032382;19115206;19188445;19190970;19199708;19204726;19246484;19282868;19380743;19419944;19585610;19615732;19738201;19755983;19845941;20098747;20109457;20398190;20508642;20530580;20538000;20587546;20618440;20659422;20729549;20817646;20926822;20936779;20972266;21062750;21139048;21548936;21565611;21705376;21743057;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22114688;22178446;22270320;22304920;22344252;22354665;22379894;22412904;22419260;22505724;22623428;22677743;22853896;22939629;23078008;23164509;23327593;23341946;23358244;23398456;23438482;23449973;23801880;23940030;23990477;24003221;24115814;24166186;24183726;24327340;24337577;24338534;2434381;24457600;2456993;24583282;2459839;2467436;2471065;24816145;2482017;6186379;8037842;8125298;8895530;9054461;9150948;9211903;9409741;9459484;9560222;9630597;9988531 3856 F8VP67;F8VQY3;F8VRG4;F8VUG2;F8W1U3;H0YIB2;P05787;Q7L4M3 ABBA01008297;ABBA01008298;ABBA01008299;ABBA01008300;ABBA01008301;AC107016;AI150751;AK222941;AK290938;AK310257;AK315826;AMYH02026502;AMYH02026503;AMYH02026504;BC000654;BC008200;BC011373;BC063513;BC073760;BC075839;BE300986;BM854215;BX417476;CH471054;CX166336;DA051933;DA825311;M26512;M26513;M34225;M34482;M77025;NG_008402;NM_001256282;NM_001256293;NM_002273;NR_045962;U76549;X12882;X74929;X74981;X98614;Z36777 AAA35748;AAA35763;AAA51542;AAB18966;AAH00654;AAH08200;AAH11373;AAH63513;AAH73760;AAH75839;ABM83563;ABM86801;BAD96661;BAF83627;BAF98717;CAA31376;CAA52882;CAA52916;CAA67203;CAL37704;CAL37770;EAW96651;EAW96652;EAW96653;EAW96654;NP_001243211;NP_001243222;NP_002264;P05787 Hs.533782;Hs.708445 1732353;1743947;5015678;5113059;5114655;5120325 D12S765;D17S1697;GDB:277179;GDB:376877;RH47175;RH79790 CARD2;CK-8;CK8;CYK8;K2C8;K8;KO OTTHUMP00000242366;OTTHUMP00000242367;OTTHUMP00000242368;OTTHUMP00000242369;OTTHUMP00000242370;cytokeratin 8;cytokeratin-8;keratin, type II cytoskeletal 8;keratin-8;type-II keratin Kb8 APPROVED protein-coding ENSG00000170421 HGNC:6446 01015 148060;215600 REVIEWED 1606454 KRT80 keratin 80 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010] 12 12 12 q13.13 51365224 51388227 - 52562780 52585798 - 52168996 52192014 - 6480464 12477932;15737194;16831889;17207965;20843789;21139048;21145461;21800051;21906983;21987572;24465473 144501 Q6KB66 ABBA01031628;AC021066;AJ717743;AL162069;AMYH02026499;BC033114;BC047308;BC065180;BU151185;BX537567;CH471111;NG_012324;NM_001081492;NM_182507;XM_005268675;XM_005268676 AAH65180;ADQ32921;CAD97784;CAG30732;EAW58235;EAW58236;EAW58237;NP_001074961;NP_872313;Q6KB66;XP_005268732;XP_005268733 Hs.140978 1782738 SHGC-156072 CK-80;K80;KB20 OTTHUMP00000196565;OTTHUMP00000196566;cytokeratin-80;keratin b20;keratin, type II cytoskeletal 80;keratin-80;type II keratin;type-II keratin Kb20 APPROVED protein-coding ENSG00000167767 HGNC:27056 14068 611161 REVIEWED 1352979 KRT81 keratin 81 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008] 12 12 12 q13 51482369 51487973 - 52679697 52685299 - 52285913 52291515 - 1600197;1580863;6480464;7240710;8554872;8699517 9402962 10692104;11792552;12477932;14520698;15231748;15489334;15797458;16189514;16831889;18021261;19380743;19615732;19738201;21799879;21987572;22539802;23088713;23438482;24530479;24816145;7490069;7528047;7556444;9457912;9665406 3887 Q14533 ABBA01031630;AC121757;AMYH02026499;AY121753;AY123848;BC006452;BC021241;BC031978;BC117465;BC117467;CH471111;NG_008184;NM_002281;S75796;X80197;X81420;Y13621;Y19206 AAB32813;AAH06452;AAH21241;AAI17466;AAI17468;AAM92877;AAM94951;ADR83185;CAA56488;CAA57180;CAA73943;CAB76826;EAW58243;NP_002272;Q14533 Hs.658118 1687311;1694726;1748353;2109461;2122675 G64252;KRTHB1_8430;RH121971;RH17914;RH98291 HB1;Hb-1;K81;KRTHB1;MLN 137;MLN137;ghHb1;ghHkb1;hHAKB2-1 OTTHUMP00000236200;hair keratin K2.9;hard keratin, type II, 1;keratin, hair, basic, 1;keratin, type II cuticular Hb1;keratin-81;metastatic lymph node 137 gene protein;type II hair keratin Hb1;type-II keratin Kb21 APPROVED protein-coding ENSG00000205426 HGNC:6458 03691 158000;602153 REVIEWED 1350237 KRT82 keratin 82 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008] 12 12 12 q13 52433892 52446333 - 52787735 52800176 - 52393951 52406392 - 1580863;6480464;8554872 10692104;15737194;16831889;17353931;19380743;2431943 3888 Q701L7;Q9NSB4 ABBA01008291;AC078865;AJ628419;AMYH02026499;CH471054;NG_012298;NM_033033;Y19207 AAI48498;AAI53100;CAB76827;CAF31523;EAW96624;NP_149022;Q9NSB4 Hs.134640 HB2;Hb-2;K82;KRTHB2 OTTHUMP00000241744;hard keratin, type II, 2;keratin, hair, basic, 2;keratin, type II cuticular Hb2;keratin-82;type II hair keratin Hb2;type-II keratin Kb22 APPROVED protein-coding ENSG00000161850 HGNC:6459 03048 601078 REVIEWED 1318342 KRT83 keratin 83 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008] 12 12 12 q13 74 5002 - 52708085 52715182 - 52314301 52321398 - 1580863;6480464;7240710;8554872;8699517 10692104;11445569;12477932;15744029;15797458;16831889;19380743;21987572;24816145;9084137 3889 P78385 ABBA01011917;ABBA01031630;AC121757;AK314904;AMYH02026499;BC069546;BC126935;BC128063;NG_008352;NM_002282;X99141;XM_005268864;XM_005275721;XM_006709960;Y19208 AAH69546;AAI26936;AAI28064;BAG37418;CAA67578;CAB76828;NP_002273;P78385;XP_005268921;XP_005275778;XP_006710023 Hs.720768 1340257;1748355 D12S270;G64253 HB3;Hb-3;K83;KRTHB3;MGC141663;hHb3 OTTHUMP00000241740;hair keratin K2.10;hard keratin, type II, 3;keratin, hair, basic, 3;keratin, type II cuticular Hb3;keratin-83;type II hair keratin Hb3;type-II keratin Kb23 APPROVED protein-coding ENSG00000170523 HGNC:6460 09097 158000;602765 REVIEWED 1343377 KRT84 keratin 84 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008] 12 12 12 q13 52417750 52425573 - 52771596 52779417 - 52377812 52385633 - 1580863;6480464;8554872 10692104;12477932;15489334;15737194;16831889;19380743;19615732;21145461;21890473;21906983;21963094;21987572;2431943 3890 Q9NSB2 ABBA01008291;AC078865;AJ628420;AK314030;AMYH02026499;BC069647;CH471054;NG_012299;NM_033045;Y19209 AAH69647;BAG36740;CAB76829;CAF31524;EAW96623;NP_149034;Q9NSB2 Hs.272336 1757785 SHGC-146512 HB4;K84;KRTHB4 OTTHUMP00000241743;hard keratin, type II, 4;keratin, hair, basic, 4;keratin, type II cuticular Hb4;keratin-84;type II hair keratin 4;type II hair keratin Hb4;type-II keratin Kb24 APPROVED protein-coding ENSG00000161849 HGNC:6461 09098 602766 REVIEWED 1350889 KRT85 keratin 85 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq, Jul 2008] 12 12 12 q13 52399944 52407463 - 52753790 52761309 - 52360006 52367525 - 1580863;6480464;7240710;8554872;8699517 10391933;10692104;10727209;16525032;16831889;17353931;18021261;19380743;19615732;19684603;19865094;20409997;20562859;21145461;21987572;24816145;8823373;9084137 3891 F5GYI5;P78386 ABBA01008291;AC078865;AK302303;AMYH02026499;CH471054;NG_008353;NM_001300810;NM_002283;X99140;XM_005268865;Y19210 AAI66627;BAH13669;CAA67577;CAB76830;EAW96622;NP_001287739;NP_002274;P78386;XP_005268922 Hs.182507 1677624;1748357;1846924;2108197 G64255;KRTHB5_8431;RH94339;STS-X99140 ECTD4;HB5;Hb-5;K85;KRTHB5;hHb5 OTTHUMP00000241741;OTTHUMP00000241742;hair keratin K2.12;hard keratin, type II, 5;keratin, hair, basic, 5;keratin, type II cuticular Hb5;keratin-85;type II hair keratin Hb5;type-II keratin Kb25 APPROVED protein-coding ENSG00000135443 HGNC:6462 04139 602032;602767 REVIEWED 1348087 KRT86 keratin 86 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008] 12 12 12 q13 51498324 51499639 + 52642892 52702947 + 52274651 52309163 + 1600198;1580863;6480464;7240710;8554872;8699517 9241275 10469314;10504448;10594761;10692104;12477932;15183744;15489334;15797458;16831889;17207965;18393232;19380743;19505862;21139048;21987572;22568869;22670615;23383108;23956138;23981620;24816145;7556444;9084137;9402962;9457912 3892 O43790;Q9NSB0;U3KPR1 ABBA01031630;AC021066;AC121757;AF416705;AF416706;AJ000263;AK057905;AK292237;AK297794;AMYH02026499;AY152543;AY152544;AY152545;BC069585;NG_008086;NM_002284;X99142;XM_005268866;Y19211 AAH69585;AAN04663;AAN04664;AAN75225;AAN75226;AAN75227;ADQ31947;BAF84926;BAG60134;CAA03979;CAA67579;CAB76831;NP_002275;O43790;XP_005268923 Hs.278658 1687311;1694726;1732349;1748353;1748359;1756013;2109461;2122675;2156818;2217548 D12S763;G64252;G64254;KRT7_2779;KRTHB1_8430;RH121971;RH17914;RH98291;SGC33015;SHGC-142829 FLJ25176;HB6;Hb1;K86;KRTHB1;KRTHB6;MNX;hHb6 OTTHUMP00000241597;hair keratin K2.11;hard keratin, type II, 6;keratin protein HB6;keratin, hair, basic, 6 (monilethrix);keratin, type II cuticular Hb6;keratin-86;type II hair keratin Hb6;type-II keratin Kb26 APPROVED protein-coding ENSG00000170442 HGNC:6463 03567 158000;601928 REVIEWED 1348943 KRT87P keratin 87 pseudogene ENCODES a protein that exhibits structural molecule activity (inferred); FOUND IN extracellular space; INTERACTS WITH chloroprene (ortholog); diethylstilbestrol (ortholog) 12 12 12 q13 51445848 51455571 - 52643405 52653128 - 52249621 52259344 - 6480464 10692104;15489334;16541075;16831889;21565611;24816145 85349 A6NCN2 ABBA01031630;AC021066;AMYH02026499;NG_000944;Y19216 A6NCN2 HBD;KRT121P;KRTHBP4 keratin, hair, basic, pseudogene 4 APPROVED pseudo HGNC:30198 INFERRED 1351826 KRT88P keratin 88 pseudogene 12 12 12 q13 51460008 51464728 + 52657565 52662281 + 52263781 52268497 + 10692104;16831889 85348 ABBA01031630;AC021066;AMYH02026499;NG_000943;Y19215 HBC;KRT122P;KRTHBP3 keratin, hair, basic, pseudogene 3 APPROVED pseudo HGNC:30197 INFERRED 1345423 KRT89P keratin 89 pseudogene 12 12 12 q13 52380934 52394400 + 52734781 52748247 + 52340997 52354463 + 10692104;16831889 85344 ABBA01008291;AC078865;AC121757;AMYH02026499;NG_000940;Y19214 HBB;KRT123P;KRTHBP2 keratin, hair, basic, pseudogene 2 APPROVED pseudo HGNC:30196 INFERRED 1347354 KRT8P1 keratin 8 pseudogene 1 14 14 14 q21.1 19060633 19062414 + 39196168 39197965 + 38726964 38728761 + 338017 ABBA01061540;AL359950;AMYH02029048;NG_007444 pseudo HGNC:20281 INFERRED 1603845 KRT8P10 keratin 8 pseudogene 10 2 2 2 q32.1 177531684 177533403 - 183935524 183937290 - 183070796 183072562 - 344320 ABBA01062310;AC064871;AMYH02005373;NG_009650 pseudo HGNC:33364 INFERRED 1345213 KRT8P11 keratin 8 pseudogene 11 9 9 9 q22.33 72581226 72582993 + 102067366 102069133 + 99305084 99306851 + 6480464 347265 ABBA01042902;AL137067;AMYH02021329;NG_005157 KRT8L1;RP11-13B9.3 keratin 8-like 1 pseudo HGNC:31058 INFERRED 1605908 KRT8P12 keratin 8 pseudogene 12 INTERACTS WITH arsenous acid; diarsenic trioxide; genistein 3 3 3 q25.33 158707581 158709274 + 160285567 160287260 + 160567779 160569472 + 6480464 12477932 90133 ABBA01058795;AC078868;AL133645;AMYH02008022;BC125159;BC125160;NG_005512 Hs.595594 2124554 RH78601 KRT8L2 pseudo HGNC:28057 INFERRED 1604854 KRT8P13 keratin 8 pseudogene 13 3 3 3 q26.2 168612331 168614062 + 170213154 170214885 + 170495365 170497096 + 730023 ABBA01058677;AC008041;AMYH02008122;NG_005969;NG_034121 pseudo HGNC:33365 INFERRED 1606394 KRT8P14 keratin 8 pseudogene 14 X X X p11.3 49683498 49685237 - 45491316 45493055 - 45632071 45633810 - 347333 ABBA01052108;AL034412;AL391134;AMYH02039250;NG_009729 1702080;2188963 DXS1446;G66005 pseudo HGNC:33366 INFERRED 1604128 KRT8P15 keratin 8 pseudogene 15 2 2 2 q33.1 197457496 197459267 - 203704809 203706580 - 202840086 202841857 - 645834 ABBA01062590;AC010900;AMYH02005580;NG_009732 2111362 D2S1509E pseudo HGNC:33367 INFERRED 1603537 KRT8P16 keratin 8 pseudogene 16 10 10 10 p14 8504073 8509937 - 8578699 8584564 - 8536736 8542601 - 220959 ABBA01034722;AL139403;AMYH02022096;NG_006099 1712753 RH120090 pseudo HGNC:33368 INFERRED 1603815 KRT8P17 keratin 8 pseudogene 17 X X X p11.21 62168713 62170439 - 58011039 58012765 + 57984605 57986331 + 392479 ABBA01015325;AL034396;AMYH02039543;NG_005968 1730425 D13S187 pseudo HGNC:33369 INFERRED 1606855 KRT8P18 keratin 8 pseudogene 18 3 3 3 p22.3 35199024 35214142 - 35256950 35272126 - 35215458 35230634 - 442078 ABBA01024883;AC092052;AC096916;AC109585;AMYH02006536;NG_009736 1713879;1728521;1784916 G63698;RH119370;SHGC-85768 pseudo HGNC:33370 INFERRED 1606615 KRT8P19 keratin 8 pseudogene 19 12 12 12 q14.1 61942184 61943912 + 62273025 62274753 + 61879244 61880972 + 644998 ABBA01026640;AC020647;AMYH02026630;NG_009706 1714457;1850082 RH119739;WI-3818 pseudo HGNC:33371 INFERRED 1344322 KRT8P2 keratin 8 pseudogene 2 14 14 14 q21.2 23870167 23871045 - 44009876 44010718 - 43540673 43541515 - 390472 ABBA01018029;AL358913;AMYH02029088;NG_029068 pseudo HGNC:20282 INFERRED 1605481 KRT8P20 keratin 8 pseudogene 20 7 7 7 p14.1 38682593 38684310 + 38694744 38696462 + 38655144 38656862 + 441218 ABBA01056930;AC011309;AMYH02015555;AMYH02015556;CH236951;NG_009704 pseudo HGNC:33372 INFERRED 1605004 KRT8P21 keratin 8 pseudogene 21 1 1 1 p31.1 71806785 71808490 + 73570462 73572167 + 73104779 73106484 + 126811 ABBA01074437;AL606535;AL732618;AMYH02001263;NG_009686 2162227 D1S2466 pseudo HGNC:33373 INFERRED 1605536 KRT8P22 keratin 8 pseudogene 22 16 16 16 q23.1 62381427 62383097 - 78082134 78083869 - 78048237 78049972 - 342419 ABBA01017026;AC079414;AMYH02032436;NG_009713 pseudo ENSG00000260731 HGNC:33374 INFERRED 1605193 KRT8P23 keratin 8 pseudogene 23 15 15 15 q24.3 54202760 54204342 - 77271170 77272868 - 76978829 76980527 - 390610 ABBA01060558;AC090181;AMYH02030843;NG_009733 pseudo HGNC:33375 INFERRED 1606847 KRT8P24 keratin 8 pseudogene 24 15 15 15 q21.1 26157548 26159387 + 49263922 49265761 + 48971725 48973564 + 729344 ABBA01039133;ABBA01039134;AC091073;AMYH02030390;NG_009475 pseudo HGNC:33376 INFERRED 1605780 KRT8P25 keratin 8 pseudogene 25 INTERACTS WITH aflatoxin B1 3 3 3 p11.2 88125607 88127316 + 87372346 87374056 + 87323196 87324906 + 6480464 402134 ABBA01004629;AC130885;AMYH02007211;NG_009735 pseudo HGNC:33377 INFERRED 1606378 KRT8P26 keratin 8 pseudogene 26 11 11 11 q13.1 62821693 62822841 + 65494338 65495486 + 65726867 65728015 + 390211 ABBA01024103;AMYH02024963;AP001266;AP001362;NG_005967 pseudo HGNC:33378 INFERRED 1605767 KRT8P27 keratin 8 pseudogene 27 X X X q11.2 64188971 64191266 + 63842160 63844455 + 64622280 64624575 + 442455 ABBA01066916;AL356265;AMYH02039601;NG_009685 pseudo HGNC:33379 INFERRED 1604147 KRT8P28 keratin 8 pseudogene 28 1 1 1 q21.3 125036499 125038094 - 151921871 151923466 - 151949395 151950990 - 391099 ABBA01049408;AL450992;AMYH02001890;NG_009726 pseudo HGNC:33380 INFERRED 1603818 KRT8P29 keratin 8 pseudogene 29 1 1 1 q32.1 176977048 176978658 - 203841702 203843315 - 203872574 203874187 - 391155 ABBA01027466;AC118554;AMYH02002519;NG_009747 1781532 SHGC-143044 pseudo HGNC:33381 INFERRED 1353644 KRT8P3 keratin 8 pseudogene 3 8 8 8 q12.3 58480900 58482671 + 62490703 62492474 + 61578144 61579915 + 11181995;21906983 399551;728638 ABBA01041827;AC090094;AMYH02018063;CH471068;NG_006536;NG_013210 EAW86850;EAW86851 APPROVED pseudo HGNC:31056 INFERRED 1606641 KRT8P30 keratin 8 pseudogene 30 2 2 2 q35 213587864 213588446 - 219818123 219818705 - 218953401 218953983 - 391485 ABBA01023854;AC097468;AMYH02005810;NG_009677 pseudo HGNC:33382 INFERRED 5130837 KRT8P31 keratin 8 pseudogene 31 5 5 5 q12.1 56980074 56981754 - 60039144 60040871 - 60743317 60745044 - 728167 ABBA01015803;AC109133;AMYH02011370;NG_021853 pseudo HGNC:39865 INFERRED 5130834 KRT8P32 keratin 8 pseudogene 32 5 5 5 q15 93611803 93613531 - 97727520 97729314 - 98391816 98393610 - 100289133 ABBA01069211;AC094106;AMYH02011843;NG_021858 pseudo HGNC:39866 INFERRED 5130831 KRT8P33 keratin 8 pseudogene 33 5 5 5 118691901 118693597 - 122736366 122738112 - 123400672 123402418 - 100418737 ABBA01068940;AC010369;AMYH02012100;NG_024625 pseudo HGNC:39867 INFERRED 5130824 KRT8P34 keratin 8 pseudogene 34 17 17 17 34651261 34652982 - 37990977 37992746 - 39834724 39836493 - 100418811 ABBA01031852;AC090844;AMYH02033388;NG_026180;NG_029104 pseudo HGNC:39868 INFERRED 5130829 KRT8P35 keratin 8 pseudogene 35 3 3 3 63099850 63101359 - 63081922 63083431 - 63096246 63097755 - 100418747 ABBA01024325;AC104299;AMYH02006942;NG_025586 2136548 D12S1995 pseudo HGNC:39869 INFERRED 5130828 KRT8P36 keratin 8 pseudogene 36 3 3 3 136244751 136246463 - 137820078 137821835 - 138101236 138102993 - 100418748 ABBA01059096;AC023049;AMYH02007763;NG_025632 pseudo HGNC:39870 INFERRED 5130835 KRT8P37 keratin 8 pseudogene 37 10 10 10 p14 8480842 8482550 - 8555462 8557170 - 8513499 8515207 - 100287325 ABBA01034722;AC025946;AMYH02022096;NG_022138 pseudo HGNC:39871 INFERRED 5130825 KRT8P38 keratin 8 pseudogene 38 10 10 10 84234123 84235493 + 90487301 90488671 + 88727544 88728914 + 100418799 ABBA01021953;AL358532;AMYH02023504;NG_025532 pseudo HGNC:39872 INFERRED 5130826 KRT8P39 keratin 8 pseudogene 39 12 12 12 68762787 68764496 + 69099336 69101045 + 68705556 68707265 + 100418781 ABBA01026552;AC124890;AMYH02026699;NG_024106 pseudo HGNC:39873 INFERRED 5130832 KRT8P40 keratin 8 pseudogene 40 2 2 2 171665150 171665719 + 178062709 178063278 + 177197981 177198550 + 100418728 ABBA01062229;AC079305;AMYH02005312;NG_023748 pseudo HGNC:39874 INFERRED 5130791 KRT8P41 keratin 8 pseudogene 41 11 11 11 p15.4 9237760 9239589 + 9115910 9117737 + 9094363 9096190 + 12477932 283102 Q6ZRU0 ABBA01061201;AC079296;AK127993;AMYH02024306;BC093663;BC112006;NR_027713 BAC87219 Hs.689472 5493319 UniSTS:485693 FLJ46111;MGC138211 pseudo ENSG00000213538 HGNC:39875 VALIDATED 5130827 KRT8P42 keratin 8 pseudogene 42 6 6 6 135358910 135360892 - 134617882 134619919 - 134296744 134298781 - 100418750 ABBA01025856;AL355881;AMYH02014528;NG_025872 pseudo HGNC:39876 INFERRED 5130833 KRT8P43 keratin 8 pseudogene 43 6 6 6 p22.3 25831526 25833560 + 24598180 24600214 + 24597952 24599986 + 100289319 ABBA01066537;AL031230;AL512385;AMYH02013327;NG_016206;NG_022349 1716795;2125371 D6S2298;RH121692 pseudo HGNC:39877 INFERRED 5130836 KRT8P44 keratin 8 pseudogene 44 6 6 6 q26 163718961 163720618 + 162989335 162990998 + 162568303 162569966 + 100129958 ABBA01015123;AMYH02014919;AP000888;CH471051;NG_008289;NG_023305 EAW47576 pseudo HGNC:39878 VALIDATED 5130839 KRT8P45 keratin 8 pseudogene 45 1 1 1 q23.1 130114156 130115876 + 157042973 157044690 + 157073181 157074898 + 149501 ABBA01016640;AL157713;AMYH02001989;NG_022808 pseudo HGNC:39879 INFERRED 5130830 KRT8P46 keratin 8 pseudogene 46 4 4 4 100948957 100950655 - 103649679 103651404 - 102728522 102730247 - 100418744 ABBA01063702;AC018797;AMYH02009819;NG_025145 pseudo HGNC:39880 INFERRED 6904254 KRT8P47 keratin 8 pseudogene 47 1 1 1 p34.1 42852338 42853903 - 44568735 44570377 - 44103063 44104705 - 644743 ABBA01050931;AL139220;AMYH02000914;NG_022720 1692370;2178345 AL033831;SHGC-74670 pseudo HGNC:44461 INFERRED 7243768 KRT8P48 keratin 8 pseudogene 48 5 5 146085574 146087237 - 146706011 146707674 - 100887067 ABBA01026335;AC011357;AMYH02012419;NG_032709 pseudo HGNC:48344 INFERRED 7243432 KRT8P49 keratin 8 pseudogene 49 11 11 11 p15.4 4867975 4869657 - 4743721 4745471 - 4722491 4724241 - 643447 ABBA01028642;AC103710;AMYH02024247;NG_021770 pseudo HGNC:48345 INFERRED 1348279 KRT8P5 keratin 8 pseudogene 5 18 18 18 q12.3 38709375 38711103 - 41900525 41902253 - 44320560 44322288 - 23251661 342732 ABBA01022346;AC110014;AMYH02034630;NG_007003 pseudo HGNC:31094 INFERRED 1603465 KRT8P6 keratin 8 pseudogene 6 X X X q26.3 137935805 137937049 - 137569827 137571071 - 138487668 138488912 - 392552 ABBA01065945;AL357692;AMYH02040602;NG_021118;Z81311 5094460 G54811 pseudo HGNC:33360 INFERRED 1603718 KRT8P7 keratin 8 pseudogene 7 11 11 11 q23.3 116634468 116636187 - 119473331 119475092 - 119602619 119604380 - 729131 ABBA01039666;AMYH02025670;AP003393;NG_009479 1672060;1764759;2164626 A007K41;SHGC-148338;WI-12594 pseudo HGNC:33361 INFERRED 1604904 KRT8P8 keratin 8 pseudogene 8 X X X q28 151894742 151896465 + 151647973 151649696 + 152479501 152481224 + 402429 ABBA01037318;AC108171;AMYH02040790;NG_009749 pseudo HGNC:33362 INFERRED 1605194 KRT8P9 keratin 8 pseudogene 9 15 15 15 q23 48041875 48043600 + 71150976 71152701 + 70858637 70860362 + 390601 ABBA01038750;AC090868;AMYH02030723;NG_009731 1686764;1740185;2187249 D15S893;D8S1691;RH11335 pseudo HGNC:33363 INFERRED 736715 KRT9 keratin 9 This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36375050 36381264 - 39722093 39728310 - 41565841 41572058 - 1600065;1580863;6480464;7240710;8554872;8699517 7512862 10218578;11487543;11774369;12477932;12532041;1385292;14675368;15174051;15324660;16043929;16169070;16212417;16831889;17362238;17373842;18029348;18477167;18573708;19106041;19380743;19451521;19548225;19738201;19874353;19946888;20391533;20964665;21145461;21151833;21221983;2140676;21489919;21565611;21715251;21800051;22178446;22262370;22623428;22678789;22939629;23084401;23265708;23278372;23397986;23398456;23798571;24510562;24583282;24639526;24862219;7504553;7507869;7511021;7516304;7523529;7532199;8647270;9204965;9856842 3857 K7EQQ3;P35527 AB001594;ABBA01031809;AC019349;AMYH02033411;BC121170;CH471152;KF456280;NG_008300;NM_000226;S69510;X75015;Z29074 AAC60619;AAI21171;AAI67813;BAA19418;CAA52924;CAA82315;EAW60744;NP_000217;P35527 Hs.654569 1339372;1743429;1743431;1759369 D17S1787;GDB:316944;GDB:316947;SHGC-150918 CK-9;EPPK;K9 OTTHUMP00000164967;cytokeratin 9;cytokeratin-9;keratin, type I cytoskeletal 9;keratin-9;type I cytoskeletal 9 APPROVED protein-coding ENSG00000171403 HGNC:6447 06351 144200;607606 REVIEWED 1347780 KRT90P keratin 90 pseudogene 12 12 12 q13 52453802 52459181 - 52807645 52813024 - 52413861 52419240 - 10692104;16831889 85340 ABBA01008292;AC055736;AMYH02026499;NG_000938;Y19213 HBA;KRT124P;KRTHBP1 keratin, hair, basic, pseudogene 1 APPROVED pseudo HGNC:30195 INFERRED 1345098 KRTAP1-1 keratin associated protein 1-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q12 35858415 35859317 - 39196811 39197713 - 41040559 41041461 - 1580863;6480464 11279113;11841537;12228244;12477932;15489334 81851 Q07627 AB052868;AB052934;AB055057;ABBA01031817;AC007455;AC037482;AJ406926;AMYH02033406;BC069321;BC069450;BC105069;BC105071;CH471152;NM_030967;X63337 AAI05070;AAI05072;BAB61024;BAB61026;BAB61031;CAA44937;CAC27565;EAW60699;NP_112229;Q07627 Hs.247934 5492957;5493959 UniSTS:480525;UniSTS:483435 HB2A;KAP1.1;KAP1.1A;KAP1.1B;KAP1.6;KAP1.7;KRTAP1.1;KRTAP1A;hKAP1.7 OTTHUMP00000164958;high sulfur keratin-associated protein 1.1;keratin associated protein 1.7;keratin associated protein 1A;keratin-associated protein 1-1;keratin-associated protein 1.1;keratin-associated protein 1.6;keratin-associated protein 1.7 APPROVED protein-coding ENSG00000188581 HGNC:16772 12304 608819 REVIEWED 1351871 KRTAP1-3 keratin associated protein 1-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35851742 35852713 - 39190136 39191107 - 41033884 41034855 - 6480464 11279113;12228244;12477932;1279380;15489334 81850 Q8IUG1 AB081339;ABBA01031818;AC007455;AC037482;AJ406927;AMYH02033406;BC069161;BC101150;BC101151;BC101152;BC101153;CH471152;NM_030966 AAH69161;AAI01151;AAI01152;AAI01153;AAI01154;BAC15620;CAC27566;EAW60698;NP_112228;Q8IUG1 Hs.534495 5492827;5493953 UniSTS:480523;UniSTS:482901 KAP1.2;KAP1.3;KAP1.6;KAP1.8A;KAP1.8B;KAP1.9;KRTAP1.3;MGC119903;MGC119904;MGC119905 OTTHUMP00000164950;keratin associated protein 1.6;keratin-associated protein 1-3;keratin-associated protein 1.8;keratin-associated protein 1.9 APPROVED protein-coding ENSG00000221880 HGNC:16771 12305 608820 REVIEWED 1349275 KRTAP1-4 keratin associated protein 1-4 The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009] 17 17 17 q21.2 35847556 35847936 - 39185929 39186377 - 41029677 41030125 - 6480464 11279113;12228244;16625196 728255 P0C5Y4 ABBA01031818;AC007455;AC037482;AMYH02033406;NM_001257305 NP_001244234;P0C5Y4 Hs.744827 1772856 D17S1196 KAP1.4;KRTAP1.4 OTTHUMP00000165000;high sulfur keratin-associated protein 1.4;keratin-associated protein 1-4;keratin-associated protein 1.4 APPROVED protein-coding ENSG00000204887 HGNC:18904 608821 VALIDATED 1347123 KRTAP1-5 keratin associated protein 1-5 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35843884 35845060 - 39182278 39183454 - 41026026 41027202 - 1580863;6480464 11279113;12228244;12477932;15489334 83895 Q9BYS1 ABBA01031818;AC007455;AC037482;AJ406928;AMYH02033406;BC069533;BC093841;BC101555;CH471152;NM_031957 AAH69533;AAH93841;AAI01556;CAC27567;EAW60697;NP_114163;Q9BYS1 Hs.534499 5492413;5493299 UniSTS:480970;UniSTS:485631 KAP1.5;KRTAP1.5;MGC126604 OTTHUMP00000164953;high sulfur keratin-associated protein 1.5;keratin associated protein 1.5;keratin-associated protein 1-5;keratin-associated protein 1.5 APPROVED protein-coding ENSG00000221852 HGNC:16777 12306 608822 REVIEWED 1605520 KRTAP10-1 keratin associated protein 10-1 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 31066742 31067752 - 45959068 45960078 - 44539185 44540195 - 6480464;8554872 10830953;12359730;12477932;14962103;15028290;23702583 386677 P60331 AB076347;ABBA01074169;AJ566380;AMYH02037916;AP001067;BC120959;BC120960;CH471079;NG_033806;NM_198691 AAI20960;AAI20961;BAD01534;CAD97461;EAX09420;NP_941964;P60331 Hs.688631 KAP10.1;KAP18-1;KAP18.1;KRTAP10.1;KRTAP18-1;KRTAP18.1 OTTHUMP00000063323;high sulfur keratin-associated protein 10.1;keratin-associated protein 10-1;keratin-associated protein 10.1;keratin-associated protein 18-1;keratin-associated protein 18.1 APPROVED protein-coding ENSG00000215455 HGNC:22966 11184 REVIEWED 1345335 KRTAP10-10 keratin associated protein 10-10 ASSOCIATED WITH Melanoma (inferred); FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 21 21 21 q22.3 31164909 31166008 + 46057273 46058372 + 44637356 44638455 + 1580863;6480464;8554872 10830953;14962103;15028290 353333 P60014 AB076358;ABBA01074169;AJ566387;AL773602;AMYH02037916;CH471079;NG_033806;NM_181688 AAI56524;AAI72516;BAD01545;CAD97467;EAX09410;NP_859016;P60014 Hs.474001 KAP10.10;KAP18.10;KRTAP18-10;KRTAP18.10 OTTHUMP00000063327;high sulfur keratin-associated protein 10.10;keratin-associated protein 10-10;keratin-associated protein 10.10;keratin-associated protein 18-10;keratin-associated protein 18.10 protein-coding ENSG00000221859 HGNC:22972 11185 VALIDATED 1354095 KRTAP10-11 keratin associated protein 10-11 FOUND IN keratin filament (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 21 21 21 q22.3 31173967 31175203 + 46066331 46067567 + 44646414 44647650 + 6480464 10830953;12477932;15028290 386678 P60411;P60412 AB076359;ABBA01074169;AF086314;AL773602;AMYH02037917;BC131611;BX103563;CH471079;NG_033806;NM_198692 AAI31612;BAD01546;EAX09409;NP_941965;P60412 Hs.58076 1700712 RH103979 KAP10.11;KAP18.11;KRTAP18-11;KRTAP18.11 OTTHUMP00000063322;high sulfur keratin-associated protein 10.11;keratin associated protein 18-11;keratin-associated protein 10-11;keratin-associated protein 10.11;keratin-associated protein 18-11;keratin-associated protein 18.11 protein-coding ENSG00000243489 HGNC:20528 11186 VALIDATED 1350396 KRTAP10-12 keratin associated protein 10-12 FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 21 21 21 q22.3 31224656 31225528 + 46117087 46117959 + 44697172 44698044 + 6480464 10830953;12477932;15028290 386685 P60413 AB076364;ABBA01074170;AL773604;AMYH02037917;BC137339;BC137341;CH471079;NG_033806;NM_198699 AAI37340;AAI37342;BAD01551;EAX09404;NP_941972;P60413 Hs.297526 KAP10.12;KRTAP18-12;KRTAP18.12 OTTHUMP00000063325;high sulfur keratin-associated protein 10.12;keratin associated protein 18-12;keratin-associated protein 10-12;keratin-associated protein 10.12;keratin-associated protein 18-12;keratin-associated protein 18.12 protein-coding ENSG00000189169 HGNC:20533 11187 VALIDATED 6481180 KRTAP10-13P keratin associated protein 10-13, pseudogene 21 21 46121949 46122716 + 44702034 44702801 + 100874224 ABBA01074170;AL773604;AMYH02037917;NG_032197;NG_033806 pseudo HGNC:34213 INFERRED 1605519 KRTAP10-2 keratin associated protein 10-2 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 31077991 31079046 - 45970240 45971388 - 44550435 44551505 - 6480464;8554872 10830953;12359730;14962103;15028290 386679 P60368;Q76LM9 AB076348;AB076349;ABBA01074169;AJ566381;AMYH02037916;AP001067;CH471079;NG_033806;NM_198693 AAI46373;AAI46566;BAD01535;BAD01536;CAD97462;EAX09419;NP_941966;P60368 Hs.664660;Hs.689667 5493509 UniSTS:486938 KAP10.2;KAP18-2;KAP18.2;KRTAP10.2;KRTAP18-2;KRTAP18.2 OTTHUMP00000063321;high sulfur keratin-associated protein 10.2;keratin-associated protein 10-2;keratin-associated protein 10.2;keratin-associated protein 18-2;keratin-associated protein 18.2 APPROVED protein-coding ENSG00000205445 HGNC:22967 11188 REVIEWED 1605517 KRTAP10-3 keratin associated protein 10-3 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 31085576 31086313 - 45977906 45978643 - 44558023 44558760 - 6480464;8554872 10830953;12359730;12477932;14962103;15028290 386682 P60369 AB076350;ABBA01074169;AJ566383;AMYH02037916;AP001067;BC133677;NG_033806;NM_198696 AAI33678;BAD01537;CAD97463;NP_941969;P60369 Hs.688630 KAP10.3;KAP18-3;KAP18.3;KRTAP10.3;KRTAP18-3;KRTAP18.3 OTTHUMP00000063324;high sulfur keratin-associated protein 10.3;keratin-associated protein 10-3;keratin-associated protein 10.3;keratin-associated protein 18-3;keratin-associated protein 18.3 APPROVED protein-coding HGNC:22968 11189 REVIEWED 1345547 KRTAP10-4 keratin associated protein 10-4 This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014] 21 21 21 q22.3 31101276 31102657 + 45993606 45994987 + 44573729 44575110 + 6480464;8554872 10830953;12359730;12477932;14962103;15028290;15489334 386672 P60372 AB076351;ABBA01074169;AJ566382;AL773602;AMYH02037916;AP001067;BC125048;BC125049;CH471079;NG_033806;NM_198687 AAI25049;AAI25050;BAD01538;EAX09416;NP_941960;P60372 Hs.567901 1730924;7187920 D21S171 KAP10.4;KAP18-4;KRTAP10.4;KRTAP18-4;KRTAP18.4;MGC149545;MGC149546 OTTHUMP00000063336;high sulfur keratin-associated protein 10.4;keratin associated protein 18-4;keratin-associated protein 10-4;keratin-associated protein 10.4;keratin-associated protein 18-4;keratin-associated protein 18.4 APPROVED protein-coding ENSG00000215454 HGNC:20521 11190 REVIEWED 1605518 KRTAP10-5 keratin associated protein 10-5 This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014] 21 21 21 q22.3 31107234 31108151 - 45999564 46000481 - 44579687 44580604 - 6480464;8554872 10830953;12359730;12477932;14962103;15028290;15489334 386680 P60370 AB076352;ABBA01074169;AJ566384;AL773602;AMYH02037916;AP001067;BC120949;BC120950;CH471079;NG_033806;NM_198694 AAI20950;AAI20951;BAD01539;CAD97464;EAX09415;NP_941967;P60370 Hs.688629 KAP10.5;KAP18-5;KAP18.5;KRTAP10.5;KRTAP18-5;KRTAP18.1;KRTAP18.5 OTTHUMP00000063334;high sulfur keratin-associated protein 10.5;keratin-associated protein 10-5;keratin-associated protein 10.5;keratin-associated protein 18-5;keratin-associated protein 18.5 APPROVED protein-coding HGNC:22969 11191 REVIEWED 1349451 KRTAP10-6 keratin associated protein 10-6 FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 21 21 21 q22.3 31118823 31120060 - 46011149 46012386 - 44591268 44592505 - 6480464 10830953;12359730;12477932;14962103;15028290 386674 P60371 AB076353;ABBA01074169;AL773602;AMYH02037916;AP001067;BC140725;CH471079;NG_033806;NM_198688 AAI40726;AAI60131;BAD01540;EAX09414;NP_941961;P60371 Hs.689666 KAP10.6;KAP18.6;KRTAP18-6;KRTAP18.6 OTTHUMP00000063330;high sulfur keratin-associated protein 10.6;keratin associated protein 18-6;keratin-associated protein 10-6;keratin-associated protein 10.6;keratin-associated protein 18-6;keratin-associated protein 18.6 protein-coding ENSG00000188155 HGNC:20523 11192 VALIDATED 1605522 KRTAP10-7 keratin associated protein 10-7 FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cadmium dichloride (ortholog); indole-3-methanol (ortholog) 21 21 21 q22.3 31128158 31129735 + 46020497 46022091 + 44600597 44602174 + 6480464 10830953;12359730;12477932;14962103;15028290;17803354;21832049 386675 P60409 AB076354;ABBA01074169;AJ566385;AL773602;AMYH02037916;AP001067;BC119643;CH471079;NG_033806;NM_198689 AAI19644;BAD01541;CAD97465;EAX09413;NP_941962;P60409 Hs.473999 KAP10.7;KAP18.7;KRTAP18-7 OTTHUMP00000063331;high sulfur keratin-associated protein 10.7;keratin associated protein 18-7;keratin-associated protein 10-7;keratin-associated protein 10.7;keratin-associated protein 18-7;keratin-associated protein 18.7 protein-coding ENSG00000272804 HGNC:22970 11193 VALIDATED 1342479 KRTAP10-8 keratin associated protein 10-8 FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 21 21 21 q22.3 31139631 31140506 + 46031996 46032871 + 44612079 44612954 + 6480464 10830953;12477932;15028290;15489334 386681 P60410 AB076355;ABBA01074169;AL773602;AMYH02037916;BC127016;CH471079;NG_033806;NM_198695 AAI27017;BAD01542;EAX09412;NP_941968;P60410 Hs.528021 KAP10.8;KRTAP18-8;KRTAP18.8 OTTHUMP00000063328;high sulfur keratin-associated protein 10.8;keratin associated protein 18-8;keratin-associated protein 10-8;keratin-associated protein 10.8;keratin-associated protein 18-8;keratin-associated protein 18.8 protein-coding ENSG00000187766 HGNC:20525 11194 VALIDATED 1605521 KRTAP10-9 keratin associated protein 10-9 FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 21 21 21 q22.3 31154676 31155931 + 46047040 46048295 + 44627123 44628378 + 6480464 10830953;12477932;14962103;15028290 386676 P60411;Q76LM8 AB076356;AB076357;ABBA01074169;AJ566386;AL773602;AMYH02037916;BC131613;CH471079;NG_033806;NM_198690 AAI31614;BAD01543;BAD01544;CAD97466;EAX09411;NP_941963;P60411 Hs.474000 5493509 UniSTS:486938 KAP10.9;KAP18.9;KRTAP18-9 OTTHUMP00000063333;high sulfur keratin-associated protein 10.9;keratin associated protein 18-9;keratin-associated protein 10-9;keratin-associated protein 10.9;keratin-associated protein 18-9;keratin-associated protein 18.9 protein-coding ENSG00000221837 HGNC:22971 11195 VALIDATED 1350814 KRTAP11-1 keratin associated protein 11-1 ENCODES a protein that exhibits structural molecule activity (inferred); FOUND IN keratin filament (inferred) 21 21 21 q22.1 17435937 17436848 - 32252963 32253874 - 30880644 30881555 - 1580863 10830953;12359730;12477932;15385554;20494980 337880 Q3LI55;Q8IUC1 AB096963;ABBA01057277;AJ457065;AMYH02037705;AP000244;BC130555;BC130557;NM_175858 AAI30556;AAI30558;BAE46378;CAD29721;NP_787054;Q8IUC1 Hs.407654 HACL-1;HACL1;KAP11.1 OTTHUMP00000063456;high sulfur keratin-associated protein 11.1;keratin-associated protein 11-1 protein-coding ENSG00000182591 HGNC:18922 11196 600064 VALIDATED 1343627 KRTAP12-1 keratin associated protein 12-1 ASSOCIATED WITH Melanoma (inferred); FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); titanium dioxide (ortholog) 21 21 21 q22.3 31209126 31209713 - 46101491 46102078 - 44681576 44682163 - 1580863;6480464;8554872 10830953;12477932;14962103;15028290;15489334 353332 P59990 AB076363;ABBA01074170;AJ566388;AL773604;AMYH02037917;BC119713;BC120942;BC127648;CH471079;NG_033806;NM_181686 AAI19714;AAI20943;AAI27649;BAD01550;CAD97468;EAX09405;NP_859014;P59990 Hs.688628 KAP12.1;KRTAP12.1 OTTHUMP00000063335;high sulfur keratin-associated protein 12.1;keratin-associated protein 12-1;keratin-associated protein 12.1 protein-coding ENSG00000187175 HGNC:20529 11197 VALIDATED 1352453 KRTAP12-2 keratin associated protein 12-2 FOUND IN keratin filament (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 21 21 21 q22.3 31193740 31194478 - 46086106 46086844 - 44666189 44666927 - 1580863;6480464 10830953;12477932;14962103;15028290;15489334 353323 P59991 AB076362;ABBA01074169;AJ566389;AL773602;AMYH02037917;BC120941;CH471079;NG_033806;NM_181684 AAI20942;BAD01549;CAD97469;EAX09406;NP_859012;P59991 Hs.567902 KAP12.2;KRTAP12.2 OTTHUMP00000063332;high sulfur keratin-associated protein 12.2;keratin-associated protein 12-2;keratin-associated protein 12.2 protein-coding ENSG00000221864 HGNC:20530 11198 VALIDATED 1350615 KRTAP12-3 keratin associated protein 12-3 FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); titanium dioxide (ortholog) 21 21 21 q22.3 31185485 31185894 + 46077849 46078258 + 44657932 44658341 + 6480464 10830953;15028290 386683 P60328 AB076361;ABBA01074169;AL773602;AMYH02037917;CH471079;NG_033806;NM_198697 AAI60116;BAD01548;EAX09407;NP_941970;P60328 Hs.528023 2219870 KRTAP12-3__6347 KRTAP12.3 OTTHUMP00000063326;high sulfur keratin-associated protein 12.3;keratin-associated protein 12-3;keratin-associated protein 12.3 protein-coding ENSG00000205439 HGNC:20531 11199 VALIDATED 1347376 KRTAP12-4 keratin associated protein 12-4 FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); titanium dioxide (ortholog) 21 21 21 q22.3 31181766 31182212 - 46074130 46074576 - 44654213 44654659 - 6480464 10830953;12477932;15028290;15489334 386684 P60329 AB076360;ABBA01074169;AL773602;AMYH02037917;BC125198;CH471079;NG_033806;NM_198698 AAI25199;BAD01547;EAX09408;NP_941971;P60329 Hs.689664 2219872 KRTAP12-4__6348 KRTAP12.4;MGC150594 OTTHUMP00000063329;high sulfur keratin-associated protein 12.4;keratin-associated protein 12-4;keratin-associated protein 12.4 protein-coding ENSG00000212933 HGNC:20532 11200 VALIDATED 1343187 KRTAP13-1 keratin associated protein 13-1 Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM, Mar 2008] 21 21 21 q22.1 16951529 16952277 + 31768392 31769140 + 30396074 30396822 + 1580863;6480464;8554872 10830953;12359730;12477932 140258 Q8IUC0 AB096939;ABBA01057270;AJ457066;AMYH02037701;AP000567;AP001708;BC113536;BC113538;CH471079;NM_181599 AAI13537;AAI13539;BAE46354;CAD29722;EAX09899;NP_853630;Q8IUC0 Hs.407653 5492977 UniSTS:483528 KAP13.1;KRTAP13.1 OTTHUMP00000063472;high sulfur keratin associated protein 13.1;high sulfur keratin-associated protein 13.1;keratin-associated protein 13-1 APPROVED protein-coding ENSG00000198390 HGNC:18924 10570 608718 VALIDATED 1345812 KRTAP13-2 keratin associated protein 13-2 FOUND IN intermediate filament (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dibutyl phthalate (ortholog) 21 21 21 q22.1 16926843 16927691 - 31743709 31744557 - 30371391 30372239 - 6480464 12359730;12477932;15489334;20494980 337959 Q52LG2 AB096938;ABBA01057270;AMYH02037700;AP000885;AP001708;BC093934;BC093936;BX104478;CH471079;NM_181621;W72002 AAH93934;AAH93936;BAE46353;EAX09900;NP_853652;Q52LG2 Hs.58152 5492993 UniSTS:483566 KAP13-2 OTTHUMP00000063470;keratin-associated protein 13-2 protein-coding ENSG00000182816 HGNC:18923 11201 VALIDATED 1352819 KRTAP13-3 keratin associated protein 13-3 ASSOCIATED WITH Melanoma (inferred); FOUND IN intermediate filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dibutyl phthalate (ortholog); dimethylarsinic acid (ortholog) 21 21 21 q22.1 16980857 16981376 - 31797711 31798230 - 30425393 30425912 - 6480464;8554872 12359730;12477932;15489334 337960 Q3SY46 AB096940;ABBA01057270;AMYH02037702;AP000567;AP001708;BC103965;NM_181622 AAI03966;BAE46355;NP_853653;Q3SY46 Hs.553687 2220536 UniSTS:484206 KAP13.3;MGC119828 OTTHUMP00000063458;keratin-associated protein 13-3 protein-coding HGNC:18925 11202 PROVISIONAL 1343476 KRTAP13-4 keratin associated protein 13-4 ASSOCIATED WITH Melanoma (inferred); FOUND IN intermediate filament (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dibutyl phthalate (ortholog) 21 21 21 q22.1 16985741 16986223 + 31802594 31803076 + 30430276 30430758 + 6480464;8554872 12359730;12477932;20494980 284827 Q3LI77 AB096941;ABBA01057270;AMYH02037702;AP000567;AP001708;BC131691;NM_181600 AAI31692;BAE46356;NP_853631;Q3LI77 Hs.553677 2219874 KRTAP13-4__6351 KAP13.4 OTTHUMP00000063453;keratin-associated protein 13-4 protein-coding HGNC:18926 11203 PROVISIONAL 1353317 KRTAP13-5P keratin associated protein 13-5, pseudogene 21 21 21 q22.1 16992119 16992418 - 31808972 31809271 - 30436654 30436953 - 10830953;12359730 337964 ABBA01057270;AMYH02037702;AP000567;AP001708;NG_002667 KAP13A;KRTAP13P1 APPROVED pseudo HGNC:18929 INFERRED 1603508 KRTAP13-6P keratin associated protein 13-6, pseudogene 21 21 21 q22.1 16912226 16912326 - 31729093 31729193 - 30356775 30356875 - 12359730 337965 ABBA01057269;AMYH02037700;AP000885;NG_002668 1750555 SHGC-111862 KAP13B;KRTAP13P2 APPROVED pseudo HGNC:18930 INFERRED 1322358 KRTAP15-1 keratin associated protein 15-1 FOUND IN intermediate filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); bis(2-chloroethyl) sulfide (ortholog); cadmium dichloride (ortholog) 21 21 21 q22.1 16995793 16996245 + 31812646 31813098 + 30440328 30440780 + 6480464 12359730;12477932;15489334 254950 Q3LI76 AB096942;ABBA01057270;AMYH02037702;AP000567;AP001708;BC104925;BC104927;NM_181623 AAI04926;AAI04928;BAE46357;NP_853654;Q3LI76 Hs.553654 2106533;2220488 KRTAP15-1__6352;UniSTS:483547 KAP15.1 OTTHUMP00000063463;keratin-associated protein 15-1 protein-coding HGNC:18927 11204 PROVISIONAL 1602313 KRTAP16-1 keratin associated protein 16-1 FOUND IN keratin filament (inferred) 17 17 17 q21.2 36117145 36118698 - 39463952 39465505 - 41307700 41309253 - 10830953;11181995;11279113;16625196 100505753 A8MUX0 ABBA01031811;AC003958;AMYH02033410;CH471152;NM_001146182 A8MUX0;EAW60725;NP_001139654 Hs.721600 KAP16.1 OTTHUMP00000165006;keratin-associated protein 16-1;putative keratin-associated protein 10-like ENSP00000375147 protein-coding ENSG00000212657 HGNC:18916 INFERRED 1343387 KRTAP17-1 keratin associated protein 17-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36124395 36125158 - 39471169 39471947 - 41314917 41315695 - 1580863;6480464 11279113;12477932;15489334;18347808;20379614 83902 Q9BYP8 ABBA01031811;AC003958;AJ406952;AMYH02033410;BC069078;BC069297;CH471152;NM_031964 AAH69078;AAH69297;AAI46277;AAI46561;CAC27591;EAW60726;NP_114170;Q9BYP8 Hs.307009 2220358;2220464;5493797 UniSTS:480641;UniSTS:482912;UniSTS:494880 KAP17.1;KRTAP16.1;KRTAP17.1 OTTHUMP00000164631;keratin associated protein 16.1;keratin-associated protein 16.1;keratin-associated protein 17-1 APPROVED protein-coding ENSG00000186860 HGNC:18917 13935 REVIEWED 1344074 KRTAP19-1 keratin associated protein 19-1 FOUND IN intermediate filament (inferred); INTERACTS WITH dioxygen; disodium selenite; ethyl methanesulfonate 21 21 21 q22.1 17035510 17035782 - 31852364 31852636 - 30480045 30480317 - 1580863;6480464 10830953;12359730;12477932 337882 Q8IUB9 AB096943;ABBA01057270;AJ457067;AMYH02037703;AP000567;AP001708;BC126284;BC126286;CH471079;NM_181607 AAI26285;AAI26287;AAI46601;AAI48507;BAE46358;CAD29723;EAX09898;NP_853638;Q8IUB9 Hs.61552 1685770;2126669;2220530 RH93984;UniSTS:484203;UniSTS:494437 KAP19.1 OTTHUMP00000063451;high tyrosine-glycine keratin-associated protein 19.1;keratin-associated protein 19-1 protein-coding HGNC:18936 11205 PROVISIONAL 1603504 KRTAP19-10P keratin associated protein 19-10, pseudogene 21 21 21 q22.1 17070031 17070282 - 31886898 31887149 - 30514580 30514831 - 12359730 337983 ABBA01057270;AMYH02037703;AP000567;NG_002689 KAP19B;KRTAP19P2 APPROVED pseudo HGNC:18951 INFERRED 1603503 KRTAP19-11P keratin associated protein 19-11, pseudogene 21 21 21 q22.1 17092638 17092870 - 31909497 31909727 - 30537178 30537408 - 12359730 337984 ABBA01057270;AMYH02037704;AP000567;NG_002671 KAP19C;KRTAP19P3 APPROVED pseudo HGNC:18952 INFERRED 1349642 KRTAP19-2 keratin associated protein 19-2 FOUND IN intermediate filament (inferred); INTERACTS WITH indole-3-methanol (ortholog); N-acetyl-L-cysteine (ortholog); N-nitrosodiethylamine (ortholog) 21 21 21 q22.1 17042656 17042814 - 31859509 31859667 - 30487190 30487348 - 6480464 12359730 337969 Q3LHN2 AB180041;ABBA01057270;AMYH02037703;AP000567;AP001708;NM_181608 AAI40342;AAI48696;BAE46380;NP_853639;Q3LHN2 Hs.553692 2220494 UniSTS:483567 KAP19.2 OTTHUMP00000155192;keratin-associated protein 19-2 protein-coding HGNC:18937 11206 PROVISIONAL 1345436 KRTAP19-3 keratin associated protein 19-3 FOUND IN intermediate filament (inferred); INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog); cadmium dichloride (ortholog) 21 21 21 q22.1 17046933 17047426 - 31863782 31864275 - 30491464 30491957 - 6480464 12359730;12477932 337970 Q7Z4W3 AB096944;ABBA01057270;AF139541;AMYH02037703;AP000567;AP001708;BC126280;BC126282;CH471079;NM_181609 AAI48586;AAI48792;AAP97270;BAE46359;EAX09897;NP_853640;Q7Z4W3 Hs.60480 1673128;1699202;2126685;2220470 RH103181;SHGC-87542;UniSTS:483024;UniSTS:494912 GTHRP;GTRHP;KAP19.3 OTTHUMP00000063462;glycine/tyrosine-rich protein;keratin-associated protein 19-3 protein-coding ENSG00000244025 HGNC:18938 11207 VALIDATED 1347700 KRTAP19-4 keratin associated protein 19-4 FOUND IN intermediate filament (inferred); INTERACTS WITH (+)-catechin; 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 21 21 21 q22.1 17052323 17052577 - 31869174 31869428 - 30496856 30497110 - 6480464 12359730;12477932;15489334 337971 Q3LI73 AB096945;ABBA01057270;AMYH02037703;AP000567;AP001708;BC117197;BC117199;NM_181610 AAI17198;AAI17200;ADR82788;ADR83449;BAE46360;NP_853641;Q3LI73 Hs.553693 2220544 UniSTS:484294 KAP19.4 OTTHUMP00000063450;keratin-associated protein 19-4 protein-coding ENSG00000186967 HGNC:18939 11208 PROVISIONAL 1344454 KRTAP19-5 keratin associated protein 19-5 FOUND IN intermediate filament (inferred); INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog); cadmium dichloride (ortholog) 21 21 21 q22.1 17057329 17057547 - 31874190 31874408 - 30501872 30502090 - 6480464 12359730;12477932;17353931;20494980 337972 Q3LI72 AB096946;ABBA01057270;AMYH02037703;AP000567;AP001708;BC100836;BC100837;BC100838;BC100839;BC113020;BC113021;NM_181611 AAI00837;AAI00838;AAI00839;AAI00840;AAI13021;AAI13022;BAE46361;NP_853642;Q3LI72 Hs.553694 2220532 UniSTS:484204 KAP19.5 OTTHUMP00000063457;keratin-associated protein 19-5 protein-coding HGNC:18940 11209 PROVISIONAL 1353157 KRTAP19-6 keratin associated protein 19-6 FOUND IN intermediate filament (inferred); INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog); valproic acid (ortholog) 21 21 21 q22.1 17096999 17097325 - 31913854 31914181 - 30541535 30541862 - 6480464 12359730;12477932 337973 Q3LI70 AB096947;AB096948;ABBA01057270;AMYH02037704;AP000567;AP001708;BC101813;BC101815;NM_181612 AAI01814;AAI01816;AAI56857;BAE46362;BAE46363;NP_853643;Q3LI70 Hs.553695 2220512 UniSTS:483774 KAP19.6 KRTAP19-6-V1;KRTAP19-6-V2;OTTHUMP00000063461;keratin-associated protein 19-6 protein-coding ENSG00000186925 HGNC:18941 11210 PROVISIONAL 1346372 KRTAP19-7 keratin associated protein 19-7 FOUND IN intermediate filament (inferred) 21 21 21 q22.1 17116560 17116751 - 31933417 31933608 - 30561098 30561289 - 12359730;12477932;15489334 337974 Q3SYF9 AB096949;ABBA01057270;AMYH02037704;AP001069;AP001708;BC103836;BC103837;BC103838;NM_181614 AAI03837;AAI03838;AAI03839;BAE46364;NP_853645;Q3SYF9 Hs.553696 2220472 UniSTS:483025 KAP19.7;MGC118928 OTTHUMP00000063464;keratin-associated protein 19-7 protein-coding HGNC:18942 11211 PROVISIONAL 2291778 KRTAP19-8 keratin associated protein 19-8 FOUND IN intermediate filament (inferred); INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog); C60 fullerene (ortholog) 21 21 21 q22.11 17593449 17593766 - 32410478 32410795 - 31038159 31038476 - 6480464 728299 Q3LI54 AB096964;ABBA01057279;AMYH02037706;AP000245;NM_001099219 BAE46379;NP_001092689;Q3LI54 Hs.580875 OTTHUMP00000063466;keratin-associated protein 19-8 protein-coding ENSG00000206102 HGNC:33898 PROVISIONAL 1603505 KRTAP19-9P keratin associated protein 19-9, pseudogene 21 21 21 q22.1 17065739 17065941 - 31882605 31882807 - 30510287 30510489 - 12359730 337982 ABBA01057270;AMYH02037703;AP000567;NG_002688 KAP19A;KRTAP19P1 APPROVED pseudo HGNC:18950 INFERRED 1344432 KRTAP2-1 keratin associated protein 2-1 FOUND IN keratin filament (inferred); INTERACTS WITH 17alpha-ethynylestradiol; bisphenol A; curcumin 17 17 17 q21.2 35864397 35865172 - 39202793 39203568 - 41046541 41047316 - 1580863;6480464 11181995;11279113;12477932 81872 F5H1T9;Q9BYU5 ABBA01031817;AC007455;AC037482;AC100808;AJ296345;AMYH02033406;CH471152;NM_001123387 CAC24555;EAW60700;NP_001116859;Q9BYU5 Hs.528921 KAP2.1A;KRTAP2.1A OTTHUMP00000164955;high sulfur keratin-associated protein 2.1;keratin associated protein KRTAP2.1A;keratin-associated protein 2-1;keratin-associated protein 2.1 protein-coding ENSG00000212725 HGNC:16775 VALIDATED 1352995 KRTAP2-2 keratin associated protein 2-2 FOUND IN keratin filament (inferred); INTERACTS WITH genistein; indole-3-methanol (ortholog) 17 17 17 q21.2 35872354 35873172 - 39210750 39211463 - 41054498 41055211 - 6480464 11181995;11279113;16625196 728279 F5H6S0;Q9BYT5 ABBA01031817;AC025904;AC037482;AC100808;AJ302536;AMYH02033406;NM_033032 CAC27564;NP_149021 Hs.650131 KAP2.2 OTTHUMP00000164959;putative keratin-associated protein ENSP00000381495 protein-coding ENSG00000214518 HGNC:18905 VALIDATED 1351254 KRTAP2-3 keratin associated protein 2-3 FOUND IN keratin filament (inferred); INTERACTS WITH indole-3-methanol (ortholog) 17 17 17 q21.2 35877201 35878052 - 39215492 39216344 - 41059240 41060092 - 6480464 11181995;11279113;12477932;16625196 730755 P0C7H8;Q9BYR9 ABBA01031817;AC025904;AC037482;AC100808;AMYH02033406;BC012486;BC063625;CH471152;NM_001165252 AAH63625;EAW60702;NP_001158724;P0C7H8 Hs.406714 KAP2.3;KRTAP2.3 Keratin-associated protein 2-3;high sulfur keratin-associated protein 2.4;keratin-associated protein 2.3 protein-coding ENSG00000212724 HGNC:18906 VALIDATED 1343099 KRTAP2-4 keratin associated protein 2-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35883081 35883844 - 39221368 39222131 - 41065116 41065879 - 1580863;6480464 11181995;11279113;12477932;15489334 85294 P0C7H8;Q9BYR9 ABBA01031817;AC025904;AC037482;AC100808;AJ406930;AMYH02033406;BC101147;BC101148;BC101149;CH471152;NM_033184 AAI01148;AAI01149;AAI01150;CAC27569;EAW60703;NP_149440;Q9BYR9 Hs.560502 5492831 UniSTS:482929 KAP2.1B;KAP2.4;KRTAP2.4;MGC119882;MGC119884;MGC119885;MGC74790 OTTHUMP00000164960;high sulfur keratin-associated protein 2.4;keratin associated protein 2.1B;keratin-associated protein 2-4;keratin-associated protein 2.4 APPROVED protein-coding ENSG00000213417 HGNC:18891 13936 REVIEWED 1348270 KRTAP2-5P keratin associated protein 2-5, pseudogene 17 17 17 q21.2 35889913 35890313 + 39228198 39228598 + 41071946 41072346 + 11279113 85343 ABBA01031817;AC025904;AC037482;AC100808;AMYH02033406;NG_000939 KAP2A;KRTAP2P1 APPROVED pseudo HGNC:18920 INFERRED 1344445 KRTAP20-1 keratin associated protein 20-1 FOUND IN intermediate filament (inferred); INTERACTS WITH indole-3-methanol (ortholog); N-acetyl-L-cysteine (ortholog); N-nitrosodiethylamine (ortholog) 21 21 21 q22.1 17172204 17172374 + 31988774 31988944 + 30616455 30616625 + 6480464 12359730;12477932;15489334 337975 Q3LI63 AB096955;ABBA01057274;AMYH02037705;AP001069;AP001708;BC104846;BC104872;NM_181615 AAI04847;AAI04873;BAE46370;NP_853646;Q3LI63 Hs.553697 2220662 UniSTS:488030 KAP20.1 OTTHUMP00000063473;keratin-associated protein 20-1 protein-coding HGNC:18943 11212 PROVISIONAL 1352336 KRTAP20-2 keratin associated protein 20-2 FOUND IN intermediate filament (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); C60 fullerene (ortholog) 21 21 21 q22.1 17191013 17191210 + 32007583 32007780 + 30635264 30635461 + 6480464 12359730;12477932;15489334 337976 Q3LI61 AB096957;ABBA01057274;AMYH02037705;AP001069;AP001708;BC111084;NM_181616 AAI11085;BAE46372;NP_853647;Q3LI61 Hs.553698 2220534 UniSTS:484205 KAP20.2;MGC133104 OTTHUMP00000063465;keratin-associated protein 20-2 protein-coding HGNC:18944 11213 PROVISIONAL 1350262 KRTAP20-3 keratin associated protein 20-3 FOUND IN intermediate filament (inferred) 21 21 21 q22.11 17198613 17198885 + 32015183 32015455 + 30642864 30643136 + 10830953;12359730 337985 Q3LI60 AB096958;ABBA01057274;AMYH02037705;AP001069;AP001708;NM_001128077 BAE46373;NP_001121549;Q3LI60 Hs.580878 KAP19D;KAP20.3;KRTAP19P4 keratin associated protein 19 pseudogene 4;keratin-associated protein 20-3 APPROVED protein-coding ENSG00000206104 HGNC:34001 VALIDATED 2293213 KRTAP20-3 keratin associated protein 20-3 FOUND IN intermediate filament (inferred) q22.11 100151753 AB096958 BAE46373;Q3LI60 Hs.580878 KAP19D;KAP20.3;KRTAP19P4 protein-coding HGNC:34001 2302448 KRTAP20-4 keratin associated protein 20-4 FOUND IN intermediate filament (inferred) 21 21 21 q22.11 17176377 17176600 + 31992946 31993169 + 30620627 30620850 + 10830953 100151643 Q3LI62 ABBA01057274;AMYH02037705;AP001069;AP001708;NR_023342 Hs.580879 KAP20.4 ncrna ENSG00000206105 HGNC:34002 PROVISIONAL 1346788 KRTAP21-1 keratin associated protein 21-1 FOUND IN intermediate filament (inferred); INTERACTS WITH indole-3-methanol (ortholog); N-acetyl-L-cysteine (ortholog); N-nitrosodiethylamine (ortholog) 21 21 21 q22.1 17310417 17310656 - 32127457 32127696 - 30755139 30755378 - 6480464 12359730;12477932;15489334 337977 Q3LI58;Q3ZCR5 AB096960;ABBA01057274;AMYH02037705;AP000243;AP001709;BC105029;BC105031;NM_181619 AAI05030;AAI05032;BAE46375;NP_853650;Q3LI58 Hs.567837 2220514;5021250 G09810;UniSTS:483775 KAP21.1 OTTHUMP00000063459;keratin-associated protein 21-1 protein-coding HGNC:18945 11214 PROVISIONAL 1349542 KRTAP21-2 keratin associated protein 21-2 ENCODES a protein that exhibits structural constituent of cutaneous appendage (inferred); FOUND IN intermediate filament (inferred); INTERACTS WITH indole-3-methanol (ortholog); N-acetyl-L-cysteine (ortholog); N-nitrosodiethylamine (ortholog) 21 21 21 q22.1 17302229 17302480 - 32119269 32119520 - 30746951 30747202 - 6480464 12359730 337978 Q3LI59 AB096959;ABBA01057274;AMYH02037705;AP000243;AP001709;NM_181617 AAI56535;AAI57081;BAE46374;NP_853648;Q3LI59 Hs.553699 2220474 UniSTS:483026 KAP21.2 OTTHUMP00000063452;keratin-associated protein 21-2 protein-coding HGNC:18946 11215 PROVISIONAL 2311719 KRTAP21-3 keratin associated protein 21-3 FOUND IN intermediate filament (inferred) 21 21 21 q22.11 17274274 17274526 - 32090843 32091095 - 30718525 30718777 - 100288323 Q3LHN1 AB180042;ABBA01057274;AMYH02037705;AP000243;NM_001164435 BAE46381;NP_001157907;Q3LHN1 Hs.580877 OTTHUMP00000155194;keratin-associated protein 21-3 protein-coding ENSG00000231068 HGNC:34216 PROVISIONAL 1603502 KRTAP21-4P keratin associated protein 21-4, pseudogene 21 21 q22.1 32114099 32114932 - 30741781 30742614 - 12359730 337986 ABBA01057274;AMYH02037705;AP000243;NG_002673 KAP21A;KRTAP21P1 APPROVED pseudo HGNC:18954 INFERRED 1352120 KRTAP22-1 keratin associated protein 22-1 FOUND IN intermediate filament (inferred) 21 21 21 q22.1 17156870 17157016 + 31973440 31973586 + 30601121 30601267 + 12359730;12477932;15489334 337979 Q3MIV0 AB096953;ABBA01057274;AMYH02037705;AP001069;AP001708;BC101682;BC101686;NM_181620 AAI01683;AAI01687;BAE46368;NP_853651;Q3MIV0 Hs.553700 2220496 UniSTS:483568 KAP22.1;MGC126731;MGC126735 OTTHUMP00000063460;keratin-associated protein 22-1 protein-coding HGNC:18947 11216 PROVISIONAL 2311721 KRTAP22-2 keratin associated protein 22-2 FOUND IN intermediate filament (inferred) 21 21 21 q22.11 17145854 17146146 - 31962424 31962716 - 30590105 30590397 - 100288287 Q3LI68 AB096950;ABBA01057273;AMYH02037705;AP001069;NM_001164434 BAE46365;NP_001157906;Q3LI68 Hs.580880 1336067 D21S1239 KAP22.2 OTTHUMP00000068284;keratin-associated protein 22-2 protein-coding ENSG00000206106 HGNC:37091 VALIDATED 1354302 KRTAP23-1 keratin associated protein 23-1 FOUND IN intermediate filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dibutyl phthalate (ortholog); dimethylarsinic acid (ortholog) 21 21 21 q22.1 16903853 16904060 - 31720717 31720924 - 30348399 30348606 - 6480464 12359730;12477932 337963 A1A580 ABBA01057269;AMYH02037700;AP000885;AP001708;BC128435;NM_181624 A1A580;AAI28436;NP_853655 Hs.553688 2126677 UniSTS:494642 KAP23.1 OTTHUMP00000214164;keratin-associated protein 23-1 protein-coding ENSG00000186980 HGNC:18928 11217 PROVISIONAL 2292073 KRTAP24-1 keratin associated protein 24-1 ENCODES a protein that exhibits structural molecule activity (inferred); FOUND IN keratin filament (inferred) 21 21 21 q22.11 16836766 16838415 - 31653627 31655276 - 30281309 30282958 - 16939781;17235325 643803 Q3LI83 AB096935;ABBA01057268;AM238513;AMYH02037700;AP000884;KF457192;NM_001085455 BAE46350;CAJ87483;NP_001078924;Q3LI83 Hs.580883 1655338;1735180 D3S2824E;STS-Z28407 KAP24.1 OTTHUMP00000155134;keratin-associated protein 24-1 protein-coding ENSG00000188694 HGNC:33902 VALIDATED 2293249 KRTAP25-1 keratin associated protein 25-1 FOUND IN intermediate filament (inferred) 21 21 21 q22.11 16844602 16844971 - 31661463 31661832 - 30289145 30289514 - 10830953 100131902 Q3LHN0 AB180043;ABBA01057268;AMYH02037700;AP000884;AP001707;NM_001128598 BAE46382;NP_001122070;Q3LHN0 Hs.580882 KAP25.1 OTTHUMP00000155133;keratin-associated protein 25-1 protein-coding ENSG00000232263 HGNC:34003 VALIDATED 1603240 KRTAP26-1 keratin associated protein 26-1 ASSOCIATED WITH Melanoma (inferred); FOUND IN intermediate filament (inferred) 21 21 21 q22.11 16874587 16875745 - 31691449 31692607 - 30319131 30320289 - 8554872 12477932;15489334;17207965;23088713 388818 Q6PEX3 AB096936;ABBA01057269;AM941740;AMYH02037700;AP000885;BC057825;CB996254;HC007104;HC044565;NM_203405 AAH57825;ADQ32499;BAE46351;CAQ03502;CBH19357;CBH30612;NP_981950;Q6PEX3 Hs.28704 1858257;2148645 SHGC-87536;STS-R67568 MGC71787 OTTHUMP00000063449;keratin associated protein;keratin-associated protein 26-1 protein-coding ENSG00000197683 HGNC:33760 14206 VALIDATED 2292072 KRTAP27-1 keratin associated protein 27-1 FOUND IN intermediate filament (inferred); INTERACTS WITH dioxygen 21 21 21 q22.11 16892468 16893149 - 31709331 31710012 - 30337013 30337694 - 6480464 643812 Q3LI81 AB096937;ABBA01057269;AMYH02037700;AP000885;NM_001077711 BAE46352;NP_001071179;Q3LI81 Hs.580881 OTTHUMP00000065885;keratin-associated protein 27-1 protein-coding ENSG00000206107 HGNC:33864 PROVISIONAL 5129240 KRTAP29-1 keratin associated protein 29-1 FOUND IN keratin filament (inferred) 17 17 q21.2 39458078 39459103 - 41301826 41302851 - 16625196 100533177 A8MX34 ABBA01031811;AC006070;AMYH02033410;CH471152;NM_001257309 A8MX34;EAW60724;NP_001244238 Hs.744833 KAP29.2 Keratin-associated protein 29-1;Keratin-associated protein 29.2 protein-coding ENSG00000212658 HGNC:34211 INFERRED 1314968 KRTAP3-1 keratin associated protein 3-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35826379 35826972 - 39164773 39165366 - 41008521 41009114 - 1580863;6480464 11279113;12477932;15489334 83896 Q9BYR8 ABBA01031818;AC007455;AC037482;AJ406931;AMYH02033406;BC113077;BC113078;CH471152;CS300806;NM_031958 AAI13078;AAI13079;CAC27570;CAK32470;EAW60695;EAW60696;NP_114164;Q9BYR8 Hs.307027 2220356;2220462 UniSTS:480630;UniSTS:482911 KAP3.1;KRTAP3.1 OTTHUMP00000164961;high sulfur keratin-associated protein 3.1;keratin-associated protein 3-1;keratin-associated protein 3.1 APPROVED protein-coding ENSG00000212901 HGNC:16778 13937 REVIEWED 1346288 KRTAP3-2 keratin associated protein 3-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35817049 35817742 - 39155445 39156138 - 40999193 40999886 - 1580863;6480464 11279113;12477932;15489334;16189514;23088713 83897 Q9BYR7 ABBA01031819;AC007455;AC037482;AJ406932;AMYH02033406;BC034582;CH471152;NM_031959 AAH34582;ABM83329;ABM86541;CAC27571;EAW60694;NP_114165;Q9BYR7 Hs.307026 KAP3.2;KRTAP3.2 OTTHUMP00000164948;high sulfur keratin-associated protein 3.2;keratin associated protein 3.2;keratin-associated protein 3-2;keratin-associated protein 3.2 APPROVED protein-coding ENSG00000212900 HGNC:16779 13938 REVIEWED 1316737 KRTAP3-3 keratin associated protein 3-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35811286 35811989 - 39149682 39150385 - 40993430 40994133 - 1580863;6480464 11279113;12477932;15489334;17207965;23088713 85293 Q9BYR6 ABBA01031819;AC007455;AC037482;AJ406933;AMYH02033406;BC069099;BC069448;BC093845;BC093847;CH471152;NM_033185 AAH69099;AAH69448;AAH93845;AAH93847;ADQ32922;CAC27572;EAW60693;NP_149441;Q9BYR6 Hs.662759 1761089;2220344;2220640 SHGC-145068;UniSTS:480451;UniSTS:486954 KAP3.3;KRTAP3.3;MGC95374 OTTHUMP00000164957;high sulfur keratin-associated protein 3.3;keratin-associated protein 3-3;keratin-associated protein 3.3 APPROVED protein-coding ENSG00000212899 HGNC:18890 13939 REVIEWED 1347025 KRTAP3-4P keratin associated protein 3-4, pseudogene 17 17 17 q21.2 35822376 35822615 - 39160772 39161011 - 41004520 41004759 - 11279113;18077133;9427749 85345 ABBA01031819;AC007455;AC037482;AMYH02033406;NG_000941 KAP3A;KRTAP3P1 APPROVED pseudo HGNC:18919 INFERRED 1349794 KRTAP4-1 keratin associated protein 4-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36003949 36004684 - 39340352 39341147 - 41184100 41184895 - 6480464 11279113;12477932;15489334;15955084 85285 Q9BYQ7 ABBA01031813;AC006070;AJ406942;AMYH02033408;BC065372;BC103845;BC103846;CH471152;NM_033060 AAI03846;AAI03847;CAC27581;EAW60715;NP_149049;Q9BYQ7 Hs.437079 2220522 UniSTS:484076 KAP4.1;KAP4.10;KRTAP4-10;KRTAP4.10;MGC118980;MGC118981 keratin associated protein 4-10;keratin-associated protein 4-1;keratin-associated protein 4-10;keratin-associated protein 4.1;keratin-associated protein 4.10;ultrahigh sulfur keratin-associated protein 4.10 APPROVED protein-coding HGNC:18907 13940 REVIEWED 1347351 KRTAP4-11 keratin associated protein 4-11 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009] 17 17 17 q21.2 35935423 35936596 - 39273433 39274606 - 41117181 41118354 - 6480464 11181995;11279113;12477932;15489334;15955084 653240 Q9BYQ6 ABBA01008204;AC025904;AC037482;AC100808;AJ406944;AMYH02033407;BC126131;BC130562;CH471152;NM_033059 AAI26132;AAI30563;CAC27583;EAW60708;NP_149048;Q9BYQ6 Hs.307015 5492725;5493447;5494039 UniSTS:480799;UniSTS:482143;UniSTS:486373 KAP4.11;KAP4.14;KRTAP4-14;KRTAP4.14;MGC161409;MGC163434 OTTHUMP00000164952;keratin associated protein 4-14;keratin-associated protein 4-11;keratin-associated protein 4-14;keratin-associated protein 4.11;keratin-associated protein 4.14;ultrahigh sulfur keratin-associated protein 4.14 APPROVED protein-coding ENSG00000212721 HGNC:18911 REVIEWED 1343990 KRTAP4-12 keratin associated protein 4-12 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35941327 35942403 - 39279343 39280419 - 41123091 41124167 - 1580863;6480464 11279113;12477932;15489334;16189514;16713569;23088713 83755 Q495H9;Q9BQ66 ABBA01031814;AC037482;AC100808;AJ406943;AMYH02033407;BC004180;BC004212;BC101159;BC101160;BC101161;BC101162;CH471152;NM_031854 AAH04180;AAH04212;AAI01160;AAI01161;AAI01162;AAI01163;ABM84555;ABW03482;CAC27582;EAW60709;NP_114060;Q9BQ66 Hs.572443 2220440;5493057 UniSTS:482170;UniSTS:484054 KAP4.12;KRTAP4.12 OTTHUMP00000165001;keratin-associated protein 4-12;keratin-associated protein 4.12;ultrahigh sulfur keratin-associated protein 4.12 APPROVED protein-coding ENSG00000213416 HGNC:16776 13941 REVIEWED 1354306 KRTAP4-13 keratin associated protein 4-13 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. q12-q21 1580863 11279113 85283 AJ296168 CAC27563 Hs.307022 KAP4.13;KRTAP4.13 protein-coding HGNC:18895 1350812 KRTAP4-14 keratin associated protein 4-14 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. q12-q21 1580863 11279113;12477932;15489334 85282 Q9BYQ6 AC037482;AJ406944;BC126131;BC130562;CH471152;NM_033059 AAI26132;AAI30563;CAC27583;EAW60708;NP_149048;Q9BYQ6 Hs.307015 KAP4.14;KRTAP4.14 protein-coding HGNC:18892 13943 1346080 KRTAP4-16P keratin associated protein 4-16, pseudogene FOUND IN keratin filament (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); paracetamol (ortholog); potassium dichromate (ortholog) 17 17 17 q21.2 35919570 35920477 - 39257654 39258561 - 41101402 41102309 - 6480464 11279113 85354 G5E9R7 ABBA01008207;AC025904;AC037482;AC100808;AMYH02033406;AMYH02033407;NG_005311 KAP4A;KRTAP4P1 APPROVED pseudo HGNC:18921 INFERRED 1352495 KRTAP4-2 keratin associated protein 4-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35997300 35998062 - 39333698 39334460 - 41177446 41178208 - 1580863;6480464 11279113;12477932;15489334 85291 Q9BYR5 ABBA01031813;AC006070;AJ406934;AMYH02033408;BC127252;CH471152;NM_033062 AAI27253;CAC27573;EAW60714;NP_149051;Q9BYR5 Hs.380165 2220386;2220432;2220440;5493625 UniSTS:481046;UniSTS:482101;UniSTS:482170;UniSTS:489968 KAP4.2;KRTAP4.2;MGC119940 OTTHUMP00000164636;keratin-associated protein 4-2;keratin-associated protein 4.2;ultrahigh sulfur keratin-associated protein 4.2 APPROVED protein-coding ENSG00000244537 HGNC:18900 13944 REVIEWED 1344789 KRTAP4-3 keratin associated protein 4-3 INVOLVED IN aging; hair cycle; FOUND IN keratin filament (inferred); INTERACTS WITH lead(0); lead(2+); potassium dichromate (ortholog) 17 17 17 q21.2 35987173 36004628 - 39323483 39324424 - 41167231 41168172 - 1580863;6480464 11279113 85290 Q9BYR4 ABBA01031813;AC006070;AJ406935;AMYH02033408;CH471152;NM_033187 CAC27574;EAW60713;NP_149443;Q9BYR4 Hs.307023 2220386;2220432;2220440;2220522 UniSTS:481046;UniSTS:482101;UniSTS:482170;UniSTS:484076 KAP4.3 OTTHUMP00000165005;keratin-associated protein 4-3;keratin-associated protein 4.3;ultrahigh sulfur keratin-associated protein 4.3 protein-coding ENSG00000196156 HGNC:18908 VALIDATED 1347393 KRTAP4-4 keratin associated protein 4-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35979610 35980688 - 39315905 39316983 - 41159653 41160731 - 1580863;6480464 11279113;15955084 84616 Q9BYR3 ABBA01031813;AC100808;AJ296168;AJ406936;AMYH02033408;CH471152;NM_032524 AAI56149;AAI56987;CAC27563;CAC27575;EAW60712;NP_115913;Q9BYR3 Hs.307022 2220346;2220404;2220440;5493629 UniSTS:480452;UniSTS:481500;UniSTS:482170;UniSTS:489963 KAP4.13;KAP4.4;KRTAP4-13;KRTAP4.13;KRTAP4.4 OTTHUMP00000164626;keratin associated protein 4-13;keratin associated protein 4.4;keratin-associated protein 4-13;keratin-associated protein 4-4;keratin-associated protein 4.13;keratin-associated protein 4.4;ultrahigh sulfur keratin-associated protein 4.13;ultrahigh sulfur keratin-associated protein 4.4 APPROVED protein-coding ENSG00000171396 HGNC:16928 13945 REVIEWED 1351130 KRTAP4-5 keratin associated protein 4-5 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35968892 35969785 - 39305176 39306054 - 41148924 41149802 - 1580863;6480464 11279113;20379614 85289 Q9BYR2 ABBA01031813;AC100808;AJ406937;AMYH02033408;CH471152;NM_033188 AAI60148;CAC27576;EAW60711;NP_149445;Q9BYR2 Hs.514863 2220440;5492577;5492741;5493687 UniSTS:481721;UniSTS:482169;UniSTS:482170;UniSTS:490326 KAP4.5;KRTAP4.5 OTTHUMP00000165004;keratin-associated protein 4-5;keratin-associated protein 4.5;ultrahigh sulfur keratin-associated protein 4.5 APPROVED protein-coding ENSG00000198271 HGNC:18899 13946 REVIEWED 1353828 KRTAP4-6 keratin associated protein 4-6 q12-q21 1580863 85288 AC025904;AJ406938 CAC27577;Q9BYR1 Hs.307014 KAP4.15;KAP4.6;KRTAP4-15 protein-coding HGNC:18909 1346065 KRTAP4-6 keratin associated protein 4-6 FOUND IN keratin filament (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); paracetamol (ortholog); potassium dichromate (ortholog) 17 17 17 q21.2 35957664 35958712 - 39295685 39296739 - 41139433 41140487 - 1580863;6480464 11279113;15955084 81871 Q9BYQ5 ABBA01031814;AC025904;AC100808;AJ406938;AJ406945;AMYH02033407;CH471152;NM_030976 CAC27577;CAC27584;EAW60710;NP_112238;Q9BYQ5 Hs.307014 KAP4.15;KAP4.6;KRTAP4-15;KRTAP4.15 keratin associated protein 4-15;keratin-associated protein 4-6;keratin-associated protein 4.6;ultrahigh sulfur keratin-associated protein 4.15 APPROVED protein-coding ENSG00000198090 HGNC:18909 VALIDATED 1352061 KRTAP4-7 keratin associated protein 4-7 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009] 17 17 17 q21.2 35902179 35903281 + 39240459 39241396 + 41084207 41085144 + 1580863;6480464 11181995;11279113;12477932;15489334;16625196 100132476 Q9BYR0 ABBA01031815;AC100808;AMYH02033406;NM_033061 NP_149050 Hs.632746 2126673 UniSTS:494599 KAP4.7;KRTAP4.7;MGC161699;MGC161701 OTTHUMP00000164949;Ultrahigh sulfur keratin-associated protein 4.7;putative keratin-associated protein 4-X APPROVED protein-coding ENSG00000240871 HGNC:18898 VALIDATED 1342775 KRTAP4-8 keratin associated protein 4-8 INVOLVED IN aging; hair cycle; FOUND IN keratin filament (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); paracetamol (ortholog); potassium dichromate (ortholog) 17 17 17 q21.2 35915120 35916293 - 39253233 39254375 - 41096981 41098123 - 1580863;6480464 11181995;11279113;16625196 728224 Q9BYQ9 ABBA01031814;AC025904;AC037482;AC100808;AJ406940;AMYH02033406;CH471152;NM_031960 CAC27579;EAW60705;NP_114166;Q9BYQ9 Hs.307019 5492725 UniSTS:482143 KAP4.8;KRTAP4.8 OTTHUMP00000164947;keratin associated protein 4.8;keratin-associated protein 4-8;keratin-associated protein 4.8;ultrahigh sulfur keratin-associated protein 4.8 protein-coding ENSG00000204880 HGNC:17230 PROVISIONAL 1347406 KRTAP4-9 keratin associated protein 4-9 INVOLVED IN aging; hair cycle; FOUND IN keratin filament (inferred); INTERACTS WITH formaldehyde; 3,4-methylenedioxymethamphetamine (ortholog); paracetamol (ortholog) 17 17 17 q21.2 35923557 35924656 + 39261641 39262740 + 41105389 41106488 + 1580863;6480464 11279113 100132386 Q9BYQ8 AC025904;AC037482;AC100808;AJ406941;AMYH02033407;CH471152;NM_001146041 CAC27580;EAW60707;NP_001139513;Q9BYQ8 Hs.307018 2172787 D17S1191 KAP4.9 OTTHUMP00000164951;keratin-associated protein 4-9;keratin-associated protein 4.9;ultrahigh sulfur keratin-associated protein 4.9 protein-coding ENSG00000212722 HGNC:18910 VALIDATED 1352638 KRTAP5-1 keratin associated protein 5-1 ASSOCIATED WITH Melanoma (inferred); FOUND IN keratin filament (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 11 11 11 p15.5 1642711 1643652 - 1605572 1606513 - 1584342 1585283 - 6480464;8554872 12234709;15144888;16442267 387264 Q6L8H4 AB126070;ABBA01012150;AC130310;AP006285;NM_001005922 AAI48863;BAD20197;NP_001005922;Q6L8H4 Hs.632147 1335574;1679061 D11S922;SHGC-3361 KRN1L;KRTAP5.1 OTTHUMP00000063273;keratin, cuticle, ultrahigh sulphur 1-like;keratin, hair cuticle, ultrahigh-sulfur, 1-like;keratin-associated protein 5-1;keratin-associated protein 5.1;ultrahigh sulfur keratin-associated protein 5.1 protein-coding ENSG00000205869 HGNC:23596 13948 148022 VALIDATED 1351402 KRTAP5-10 keratin associated protein 5-10 ASSOCIATED WITH Melanoma (inferred); FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 11 11 11 q13.4 68553063 68577766 + 71276609 71277666 + 71565563 71566620 + 6480464;8554872 12477932;15144888 387273 A6NC61;Q6L8G5 AB126079;AP000867;BC137550;BC137566;NM_001012710 AAI37551;AAI37567;BAD20206;NP_001012728;Q6L8G5 Hs.661887 1688542;1689879;1721131;1742521;1847879;2154767;2159696;2220424 G59550;GDB:197848;KRN1;RH12555;RH18107;RH39939;SHGC-12671;UniSTS:481756 KRTAP5.10 OTTHUMP00000063296;keratin-associated protein 5-10;keratin-associated protein 5.10;ultrahigh sulfur keratin-associated protein 5.10 protein-coding ENSG00000204572 HGNC:23605 12394 VALIDATED 1605177 KRTAP5-11 keratin associated protein 5-11 FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 11 11 11 q13.4 68592144 68593164 - 71292901 71293921 - 71581855 71582875 - 6480464 12477932;15144888 440051 Q6L8G4 AB126080;ABBA01017551;AJ628244;AMYH02025068;AP000867;BC130498;BC130502;NM_001005405 AAI48464;BAD20207;NP_001005405;Q6L8G4 Hs.679617 KRTAP5-5;KRTAP5-6;KRTAP5.11 OTTHUMP00000063297;keratin associated protein 5-5;keratin-associated protein 5-11;keratin-associated protein 5.11;ultrahigh sulfur keratin-associated protein 5.11 protein-coding ENSG00000204571 HGNC:23606 17248 VALIDATED 1353361 KRTAP5-13P keratin associated protein 5-13, pseudogene 11 11 q13.4 71279598 71280047 + 71568552 71569001 + 15144888 387275 ABBA01017551;AMYH02025068;AP000867;NG_027924 KRTAP5.P1;KRTAP5P1 APPROVED pseudo HGNC:23607 INFERRED 1345328 KRTAP5-14P keratin associated protein 5-14, pseudogene 11 11 q13.4 71290558 71291027 + 71579512 71579981 + 15144888 387276 ABBA01017551;AMYH02025068;AP000867;NG_027925 KRTAP5.P2;KRTAP5P2 APPROVED pseudo HGNC:23608 INFERRED 1351556 KRTAP5-2 keratin associated protein 5-2 ASSOCIATED WITH Melanoma (inferred); FOUND IN keratin filament (inferred); INTERACTS WITH cadmium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 11 11 11 p15.5 1655845 1656962 - 1618407 1619524 - 1597177 1598294 - 6480464;8554872 12477932;15144888;23590728 440021 Q701N4 AB126071;ABBA01012151;AC130310;AJ628245;AMYH02024173;AP006285;BC132882;BC132908;NM_001004325 AAI32883;AAI32909;AAI46602;AAI56417;BAD20198;CAF31637;NP_001004325;Q701N4 Hs.633229;Hs.673618 KRTAP5-8;KRTAP5.2 OTTHUMP00000230140;keratin-associated protein 5-2;keratin-associated protein 5-8;keratin-associated protein 5.2;keratin-associated protein 5.8;ultrahigh sulfur keratin-associated protein 5.2 protein-coding ENSG00000205867 HGNC:23597 17249 VALIDATED 1342991 KRTAP5-3 keratin associated protein 5-3 FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 11 11 11 p15.5 1666231 1667121 - 1628795 1629693 - 1607565 1608463 - 6480464 15144888 387266 Q6L8H2 AB126072;ABBA01012151;AC130310;AJ628246;AMYH02024174;AP006285;AY597812;NM_001012708 AAI48333;AAI48734;AAT09005;BAD20199;CAF31638;NP_001012726;Q6L8H2 Hs.532471 KRTAP5-9;KRTAP5.3 OTTHUMP00000063274;UHS KerB-like;keratin-associated protein 5-3;keratin-associated protein 5-9;keratin-associated protein 5.3;keratin-associated protein 5.9;ultrahigh sulfur keratin-associated protein 5.3 protein-coding ENSG00000196224 HGNC:23598 12395 VALIDATED 1347838 KRTAP5-4 keratin associated protein 5-4 ASSOCIATED WITH Melanoma (inferred); FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 11 11 11 p15.5 1679609 1680967 - 1642188 1643368 - 1620958 1622138 - 6480464;8554872 15144888 387267 A8MUN0;Q6L8H1 AB126073;ABBA01012151;ABBA01012152;AC130310;AMYH02024174;NM_001012709 AAI46562;AAI48330;BAD20200;NP_001012727;Q6L8H1 Hs.539087 1688542;1689879 RH12555;RH39939 KRTAP5.4 OTTHUMP00000063271;keratin-associated protein 5-4;keratin-associated protein 5.4;ultrahigh sulfur keratin-associated protein 5.4 protein-coding ENSG00000241598 HGNC:23599 12396 PROVISIONAL 1605485 KRTAP5-5 keratin associated protein 5-5 ASSOCIATED WITH Melanoma (inferred); FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 11 11 11 p15.5 1688633 1689712 + 1651033 1652160 + 1629803 1630930 + 6480464;8554872 15144888 439915 Q701N2 AB126074;ABBA01012152;AC130310;AJ628247;AP006285;NM_001001480;XM_003846544;XM_006725534 BAD20201;CAF31639;NP_001001480;Q701N2;XP_003846592;XP_006725597 Hs.653467;Hs.673618 1772689 SHGC-57627 KRTAP5-11;KRTAP5.5 OTTHUMP00000063272;keratin associated protein 5-11;keratin-associated protein 5-11;keratin-associated protein 5-5;keratin-associated protein 5.11;keratin-associated protein 5.5;ultrahigh sulfur keratin-associated protein 5.5 protein-coding HGNC:23601 VALIDATED 1605180 KRTAP5-6 keratin associated protein 5-6 FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 11 11 11 p15.5 1756626 1757186 + 1718425 1718985 + 1697195 1697755 + 6480464 12477932;15144888 440023 Q6L8G9 AB126075;ABBA01012156;AC068580;AC130310;AMYH02024175;BC130399;BC133035;NM_001012416 AAI30400;AAI33036;BAD20202;NP_001012416;Q6L8G9 Hs.534863 KRTAP5.6 OTTHUMP00000063267;keratin-associated protein 5-6;keratin-associated protein 5.6;ultrahigh sulfur keratin-associated protein 5.6 protein-coding ENSG00000205864 HGNC:23600 17250 VALIDATED 1605178 KRTAP5-7 keratin associated protein 5-7 FOUND IN keratin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 11 11 11 q13.4 68531695 68532592 + 71238313 71239210 + 71527267 71528164 + 6480464 12477932;15144888 440050 Q6L8G8 AB126076;ABBA01017551;AJ628243;AMYH02025068;AP000867;BC136967;BC136968;NM_001012503 AAI36968;AAI36969;AAI48791;BAD20203;CAF31636;NP_001012521;Q6L8G8 Hs.710675 KRTAP5-3;KRTAP5.7 OTTHUMP00000063283;keratin-associated protein 5-3;keratin-associated protein 5-7;keratin-associated protein 5.3;keratin-associated protein 5.7;ultrahigh sulfur keratin-associated protein 5.7 protein-coding HGNC:23602 17251 VALIDATED 1605356 KRTAP5-8 keratin associated protein 5-8 FOUND IN keratin filament (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 11 11 11 q13.4 68542453 68543635 + 71249071 71250253 + 71538025 71539207 + 6480464 10023043;15144888 57830 O75690 AB126077;ABBA01017551;AJ006692;AMYH02025068;AP000867;AY360461;BX099510;NM_021046 AAI60147;AAQ62965;BAD20204;CAA07188;NP_066384;O75690 Hs.445245 1680982 RH92105 KRTAP5-2;KRTAP5.8 OTTHUMP00000063284;UHS KERB-like protein;UHS KerB;UHS keratin B;UHSKerB;keratin, ultra high-sulfur matrix protein B;keratin, ultrahigh sulfur, B;keratin-associated protein 5-8;keratin-associated protein 5.8;ultrahigh sulfur keratin-associated protein 5.8 protein-coding ENSG00000241233 HGNC:23603 17252 VALIDATED 1603711 KRTAP5-9 keratin associated protein 5-9 INVOLVED IN epidermis development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN keratin filament (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 11 11 11 q13.5 68552848 68554035 + 71259466 71260653 + 71548420 71549607 + 6480464;8554872 10023043;12477932;15144888;15489334;16344560;1703541;17207965;1724400;23088713 3846 P26371 AB126078;ABBA01017551;AJ006693;AMYH02025068;AP000867;BC069531;BC101744;DB339866;NM_005553;X55293;X63755 AAH69531;AAI01745;ADQ32902;BAD20205;CAA07189;CAA39005;CAA45283;NP_005544;P26371 Hs.709220 1721131;1742521;1847879;2154767;2159696;2220424;5492923 G59550;GDB:197848;KRN1;RH18107;SHGC-12671;UniSTS:481756;UniSTS:483250 KRN1;KRTAP5-1;KRTAP5.9;MGC126793 OTTHUMP00000235550;UHS KerA;UHS keratin A;keratin, cuticle, ultrahigh sulfur 1;keratin, cuticle, ultrahigh sulphur 1;keratin, ultra high-sulfur matrix protein A;keratin-associated protein 5-9;keratin-associated protein 5.9;ultrahigh sulfur keratin-associated protein 5.9 protein-coding ENSG00000254997 HGNC:23604 01008 148021 VALIDATED 7245622 KRTAP5-AS1 KRTAP5-1/KRTAP5-2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 11 11 11 p15.5 1631081 1657852 + 1593971 1620414 + 1572741 1599184 + 8554872 14702039;16344560 338651 ABBA01012150;ABBA01012151;AC130310;AK055141;AK057910;AMYH02024172;AMYH02024173;AMYH02024174;AP006285;DA040009;DA061271;NR_021489 BAB70862 Hs.633229;Hs.673618 1335574;1679061;1688542;1689879;7185697 D11S922;RH12555;RH39939;SHGC-3361 ncrna ENSG00000233930 HGNC:27877 VALIDATED 1344528 KRTAP6-1 keratin associated protein 6-1 FOUND IN cytosol; INTERACTS WITH atrazine; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 21 21 21 q22.1 17169435 17169653 - 31986005 31986223 - 30613686 30613904 - 6480464 12359730;12477932;16780588 337966 Q3LI64 AB096954;ABBA01057274;AMYH02037705;AP001069;AP001708;BC104426;BC104427;NM_181602 AAI48583;AAI53092;BAE46369;NP_853633;Q3LI64 Hs.194301;Hs.553689 1932676;2220528 REN37170;UniSTS:484202 C21orf103;KAP6.1 OTTHUMP00000063467;keratin-associated protein 6-1 protein-coding HGNC:18931 11218 VALIDATED 1353226 KRTAP6-2 keratin associated protein 6-2 FOUND IN intermediate filament (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 21 21 21 q22.1 17154435 17154623 - 31971005 31971193 - 30598686 30598874 - 6480464 12359730 337967 Q3LI66 AB096952;ABBA01057274;AMYH02037705;AP001069;AP001708;NM_181604 AAI41489;AAI48772;BAE46367;NP_853635;Q3LI66 Hs.553690 2220510 UniSTS:483773 KAP6.2 OTTHUMP00000063471;keratin-associated protein 6-2 protein-coding HGNC:18932 11219 VALIDATED 1352489 KRTAP6-3 keratin associated protein 6-3 FOUND IN intermediate filament (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 21 21 21 q22.1 17148189 17148804 + 31964759 31965374 + 30592440 30593055 + 6480464 12359730;12477932 337968 Q3LI67 AB096951;ABBA01057273;AMYH02037705;AP001069;AP001708;BC101121;BC101122;BC118547;BC118624;NM_181605 AAI01122;AAI01123;AAI18548;AAI18625;AAI60114;BAE46366;NP_853636;Q3LI67 Hs.553691 2220468 UniSTS:483023 KAP6.3 OTTHUMP00000063468;keratin-associated protein 6-3 protein-coding ENSG00000212938 HGNC:18933 11220 VALIDATED 1352307 KRTAP7-1 keratin associated protein 7-1 (gene/pseudogene) FOUND IN intermediate filament (inferred); INTERACTS WITH paracetamol (ortholog) 21 21 21 q22.1 17384322 17385016 - 32201357 32202051 - 30829039 30829732 - 1580863;6480464 10830953;12359730 337878 Q8IUC3 AB096962;ABBA01057276;AJ457063;AMYH02037705;AP000244;AP001709;KF510536;NM_181606 BAE46377;CAD29719;NP_853637;Q8IUC3 Hs.407656 KAP7.1 high tyrosine-glycine keratin-associated protein 7.1;keratin-associated protein 7-1 APPROVED protein-coding ENSG00000274749 HGNC:18934 VALIDATED 1354331 KRTAP8-1 keratin associated protein 8-1 FOUND IN intermediate filament (inferred); INTERACTS WITH dibutyl phthalate (ortholog); dimethylarsinic acid (ortholog); paracetamol (ortholog) 21 21 21 q22.1 17367980 17368535 - 32185015 32185570 - 30812697 30813252 - 1580863;6480464 10830953;12359730;12477932;23791804 337879 Q8IUC2 AB096961;ABBA01057274;AJ457064;AMYH02037705;AP000244;BC130397;BC133033;CH471079;NM_175857 AAI30398;AAI33034;BAE46376;CAD29720;EAX09896;NP_787053;Q8IUC2 Hs.407655 KAP8.1 OTTHUMP00000063454;high glycine-tyrosine keratin-associated protein 8.1;keratin-associated protein 8-1 protein-coding ENSG00000183640 HGNC:18935 11221 VALIDATED 1603507 KRTAP8-2P keratin associated protein 8-2, pseudogene 21 21 21 q22.1 17357524 17357646 - 32174561 32174683 - 30802243 30802365 - 12359730 337980 ABBA01057274;AMYH02037705;AP000244;NG_002669 1730630;1730634;2169283 D21S307;D21S309;SHGC-51829 KAP8A;KRTAP8P1 APPROVED pseudo HGNC:18948 INFERRED 1603506 KRTAP8-3P keratin associated protein 8-3, pseudogene 21 21 21 q22.1 17362273 17362383 - 32179308 32179418 - 30806990 30807100 - 12359730 337981 ABBA01057274;AMYH02037705;AP000244;NG_002670 KAP8B;KRTAP8P2 APPROVED pseudo HGNC:18949 INFERRED 1347378 KRTAP9-1 keratin associated protein 9-1 FOUND IN keratin filament (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q21.2 36009674 36010454 + 39346139 39346891 + 41189887 41190639 + 6480464 11279113;16625196 728318 A8MXZ3;H7BXR9;H7BYC4 ABBA01031813;AC006070;AMYH02033408;NM_001190460;XM_005257633 A8MXZ3;NP_001177389;XP_005257690 Hs.727478 KAP9.1;KRTAP9L3 OTTHUMP00000165003;Putative keratin-associated protein 9-2-like 3;keratin associated protein 9-like 3;keratin-associated protein 9-1;keratin-associated protein 9-2-like 3-like protein-coding ENSG00000240542 HGNC:18912 INFERRED 1353696 KRTAP9-11P keratin associated protein 9-11, pseudogene 17 17 q21.2 39427563 39428087 + 41271311 41271835 + 11279113 85347 ABBA01031811;ABBA01031812;AC006070;NG_000942 KAP9A;KRTAP9P1 APPROVED pseudo HGNC:18918 INFERRED 7247192 KRTAP9-12P keratin associated protein 9-12, pseudogene 17 17 17 q21.2 36032522 36033221 + 39368967 39369668 + 41212715 41213416 + 100287715 ABBA01031813;AC006070;AC213246;AMYH02033408;NG_022467 pseudo HGNC:48873 INFERRED 1350529 KRTAP9-2 keratin associated protein 9-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36046440 36047444 + 39382900 39383904 + 41226648 41227652 + 1580863;6480464 11279113;12477932;17353931 83899 I3NI30;Q9BYQ4 ABBA01031813;AC006070;AC209539;AJ406946;AMYH02033408;BC069560;BC110619;BC117287;CH471152;NM_031961 AAH69560;AAI10620;AAI17288;CAC27585;EAW60718;NP_114167;Q9BYQ4 Hs.307013 1685662;2220382;5493109 RH80392;UniSTS:480975;UniSTS:484315 KAP9.2;KRTAP9.2;MGC130013 OTTHUMP00000164973;keratin-associated protein 9-2;keratin-associated protein 9.2;ultrahigh sulfur keratin-associated protein 9.2 APPROVED protein-coding ENSG00000239886 HGNC:16926 13949 REVIEWED 1347666 KRTAP9-3 keratin associated protein 9-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36052255 36053246 + 39388715 39389706 + 41232463 41233454 + 1580863;6480464 11279113;12477932;15489334;17353931;19380743 83900 Q9BYQ3 ABBA01004437;AC006070;AC209539;AJ406947;AMYH02033408;BC074918;BC074919;CH471152;NM_031962 AAH74918;AAH74919;CAC27586;EAW60719;NP_114168;Q9BYQ3 Hs.307012 2220354;5492419 UniSTS:480528;UniSTS:480978 KAP9.3;KRTAP9.3 OTTHUMP00000164625;keratin associated protein 9.3;keratin-associated protein 9-3;keratin-associated protein 9.3;ultrahigh sulfur keratin-associated protein 9.3 APPROVED protein-coding ENSG00000204873 HGNC:16927 13950 REVIEWED 1346768 KRTAP9-4 keratin associated protein 9-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36069428 36070394 + 39405939 39406905 + 41249687 41250653 + 1580863;6480464;8554872 11279113;12477932;15489334 85280 Q9BYQ2 ABBA01031813;AC006070;AC209539;AC213246;AJ406948;AMYH02033408;BC121094;CH471152;NM_033191 AAI21095;CAC27587;EAW60721;NP_149461;Q9BYQ2 Hs.528700 1685171;2220354;2220382;2220436;5493109 RH98356;UniSTS:480528;UniSTS:480975;UniSTS:482140;UniSTS:484315 KAP9.4;KRTAP9.4 OTTHUMP00000164637;keratin-associated protein 9-4;keratin-associated protein 9.4;ultrahigh sulfur keratin-associated protein 9.4 APPROVED protein-coding ENSG00000241595 HGNC:18902 13951 REVIEWED 1353120 KRTAP9-5 keratin associated protein 9-5 q12-q21 1580863 11279113 85279 Q9BYQ1 AC006070;AJ406949;XM_926671;XM_937223 CAC27588;Q9BYQ1;XP_931764;XP_942316 Hs.307010 KAP9.5 protein-coding HGNC:18913 1352438 KRTAP9-6 keratin associated protein 9-6 q12-q21 11279113 85278 AC006070 KAP9.6 protein-coding HGNC:18914 2799203 KRTAP9-6 keratin associated protein 9-6 FOUND IN keratin filament (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); paracetamol (ortholog); pirinixic acid (ortholog) 17 17 q21.2 39421630 39422112 + 41265378 41265860 + 6480464 11279113;16625196 100507608 A8MVA2 ABBA01031813;AC006070;AC209539;NM_001277331;XM_003846481 A8MVA2;NP_001264260;XP_003846529 KAP9.6;KRTAP9-6;KRTAP9.6;KRTAP9L2 Putative keratin-associated protein 9-2-like 2;keratin associated protein 9-like 2;keratin-associated protein 9-2-like 2-like;keratin-associated protein 9-6 APPROVED protein-coding HGNC:18914 INFERRED 1349870 KRTAP9-7 keratin associated protein 9-7 FOUND IN keratin filament (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); paracetamol (ortholog); pirinixic acid (ortholog) 17 17 17 q21.2 36085133 36085657 + 39431950 39432459 + 41275698 41276207 + 6480464 11279113;16625196 100505724 A8MTY7 ABBA01031811;AC006070;AMYH02033408;AMYH02033409;CH471152;NM_001277332;XM_006726760 A8MTY7;EAW60723;NP_001264261;XP_006726823 KAP9.7;KRTAP9L1 OTTHUMP00000164971;Putative keratin-associated protein 9-2-like 1;keratin associated protein 9-like 1;keratin-associated protein 9-7 protein-coding HGNC:18915 INFERRED 1348121 KRTAP9-8 keratin associated protein 9-8 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36057760 36058746 + 39394270 39395256 + 41238018 41239004 + 1580863;6480464 11279113;12477932;15489334 83901 Q9BYQ0 ABBA01010965;AC006070;AC209539;AC213246;AJ406950;AMYH02033408;BC074981;BC074982;CH471152;NM_031963;XM_006726315;XM_006726316;XM_006726742 AAH74981;AAH74982;CAC27589;EAW60720;NP_114169;Q9BYQ0;XP_006726378;XP_006726379;XP_006726805 Hs.307011 1685171;1685662;2220382;2220436;5492415 RH80392;RH98356;UniSTS:480975;UniSTS:480979;UniSTS:482140 KAP9.8;KRTAP9.8 OTTHUMP00000164970;keratin associated protein 9.8;keratin-associated protein 9-8;keratin-associated protein 9.8;ultrahigh sulfur keratin-associated protein 9.8 APPROVED protein-coding ENSG00000187272 HGNC:17231 REVIEWED 1343161 KRTAP9-9 keratin associated protein 9-9 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36075127 36076122 + 39411636 39412616 + 41255384 41256364 + 1580863;6480464;8554872 11279113 81870 Q9BYP9 ABBA01031813;AC006070;AC209539;AC213246;AJ406949;AJ406951;AMYH02033408;NM_030975 CAC27588;CAC27590;NP_112237;Q9BYP9 Hs.722077 1685171;1685662;2220354;2220382;2220436 RH80392;RH98356;UniSTS:480528;UniSTS:480975;UniSTS:482140 KAP9.5;KAP9.9;KRTAP9-5;KRTAP9.9 OTTHUMP00000164969;keratin-associated protein 9-5;keratin-associated protein 9-9;keratin-associated protein 9.5;ultrahigh sulfur keratin-associated protein 9.9 APPROVED protein-coding ENSG00000198083 HGNC:16773 REVIEWED 2800936 KRTAP9L1 keratin associated protein 9-like 1 FOUND IN keratin filament (inferred) q21.2 16625196 728341 AC006070;XM_001719339 A8MTY7;XP_001719391 Putative keratin-associated protein 9-2-like 1;keratin-associated protein 9-2-like 1-like protein-coding HGNC:37139 1318165 KRTCAP2 keratinocyte associated protein 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN oligosaccharyltransferase complex (ortholog); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; cycloheximide 1 1 1 q22 128213149 128217068 - 155141884 155151331 - 155169408 155173328 - 737633;1580863;6480464;8554872 12477932 12752121;14702039;15489334;15835887;16710414;21832049;22266900;24250222 200185 Q8N6L1 ABBA01016714;AK024167;AK311907;AL607067;AMYH02001941;AX588188;AX588513;AY157577;BC029806;BC048205;BC057233;BX647396;CH471121;NM_173852 AAH29806;AAH48205;AAH57233;AAO13161;ABM81719;ABM84874;BAG34848;BAG51267;CAD61413;CAD61569;EAW53111;NP_776251;Q8N6L1 Hs.516671;Hs.704676 1652743;5015961 D15S1477;WI-11760 KCP-2;KCP2 OTTHUMP00000015784;keratinocyte-associated protein 2;keratinocytes associated protein 2 protein-coding ENSG00000163463 HGNC:28942 17253 VALIDATED 1342898 KRTCAP3 keratinocyte associated protein 3 ASSOCIATED WITH Melanoma (inferred); SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH progesterone; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 p23.3 27511407 27515522 + 27665233 27669348 + 27442366 27446481 + 6480464;8554872 12477932;12752121;15489334;16341674;16712791;18976975;21906983;23505323 200634 F8WDP6;H7BZ70;Q53RY4 ABBA01045208;AC074117;AMYH02003479;AY157576;AY358993;BC101687;BC101689;BC143574;BM794111;CB160871;CH471053;NM_001168364;NM_173853;XM_005264197;XM_005264198 AAI01688;AAI01690;AAI43575;AAO13160;AAQ89352;AAY14848;EAX00576;EAX00577;NP_001161836;NP_776252;Q53RY4;XP_005264254;XP_005264255 Hs.59509 1768936;2136586;5124970 D2S1979;RH47842;RH92034 KCP-3;KCP3;MGC126736;MGC126738;MRV222;PRO9898 OTTHUMP00000123419;OTTHUMP00000200820;keratinocyte-associated protein 3;keratinocytes associated protein 3 protein-coding ENSG00000157992 HGNC:28943 17254 VALIDATED 1603836 KRTDAP keratinocyte differentiation-associated protein This gene encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 19 19 19 q13.12 32691750 32694878 - 35978226 35981433 - 35487324 35490531 - 6480464 11054531;11076863;12477932;12975309;15140226;15489336;16381901;7566098 388533 P60985 ABBA01018746;AD001502;AI184682;AJ293408;AMYH02035985;AY359007;BC130501;NG_030050;NM_001244847;NM_207392;W95920 AAI30502;AAQ89366;ADR83458;CAL37452;CAL37545;CAL37550;CAL37616;CAL37725;CAL37729;CAL38275;CAL38354;NP_001231776;NP_997275;P60985 Hs.112457 KDAP;MGC163373;UNQ467 KIPV467;OTTHUMP00000208018 APPROVED protein-coding ENSG00000188508 HGNC:16313 18262 REVIEWED 1317686 KSR1 kinase suppressor of ras 1 ENCODES a protein that exhibits ATP binding (inferred); MAP-kinase scaffold activity (inferred); metal ion binding (inferred); INVOLVED IN intracellular signal transduction (inferred); positive regulation of MAPK cascade (inferred); protein phosphorylation (inferred); PARTICIPATES IN ceramide signaling pathway; platelet-derived growth factor signaling pathway; the extracellular signal-regulated Raf/Mek/Erk signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; calcitriol; formaldehyde 17 17 17 q11.2 22660877 22812553 + 25799036 25950718 + 27456464 27626441 + 2293880;5686410;6480464;6484113;6907045;8554872 17726577;22177953 10764733;11741534;11940661;12007434;12105213;12477932;12941695;14702039;14724641;15090600;15489334;15520853;15520859;15899786;16625196;16732322;17081983;17979178;18332145;18426801;18719367;19188442;19718030;19946888;20379614;20945381;21435442;21555152;21829671;22752157;22939624;23128233;23250398;23416464;24095280;24129246;24255178;8521512;9115393;9858547 8844 A8MY87;J3QKR8;J3QLI1;J3QQK5;J3QQL4;J3QR75;J3QSG8;Q8IVT5 ABBA01015068;ABBA01015069;ABBA01015070;AC015688;AC069366;AK095721;AK124344;AK130719;AMYH02033210;AMYH02033211;AX823573;AX823575;BC035488;BC037586;BC042106;BI829205;BX396814;CH471159;NM_014238;U43586;XM_006722151;XM_006722152;XM_006722153;XM_006722154;XM_006722155;XM_006722156;XM_006722157;XM_006722158;XM_006722159 AAC50354;AAH42106;AAI67812;BAC85413;CAE84533;CAE84534;EAW51034;EAW51035;NP_055053;Q8IVT5;XP_006722214;XP_006722215;XP_006722216;XP_006722217;XP_006722218;XP_006722219;XP_006722220;XP_006722221;XP_006722222 Hs.133534 1340911;1690486;1855719;2191545;5024039;5037552 D16S325;D17S1543;D17S696;D8S2279;MARC_26164-26165:1030455897:1;RH65090 KSR;RSU2 OTTHUMP00000162931 protein-coding ENSG00000141068 HGNC:6465 601132 VALIDATED 1351357 KSR2 kinase suppressor of ras 2 ENCODES a protein that exhibits ATP binding (inferred); MAP-kinase scaffold activity (inferred); metal ion binding (inferred); INVOLVED IN calcium-mediated signaling (inferred); intracellular signal transduction (inferred); positive regulation of MAPK cascade (inferred); PARTICIPATES IN the extracellular signal-regulated Raf/Mek/Erk signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); cytosol (inferred); membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; silicon dioxide; 4-vinylcyclohexene dioxide (ortholog) 12 12 12 q24.22-q24.23 117521406 118036368 - 117890817 118406399 - 117453012 117968594 - 5686410;6480464;8554872 22177953 12471243;12477932;12975377;14702039;15489334;16039990;17599832;19260141;19563921;19913121;20379614;20628086;20945381;21145461;21403620;21441910;22505724;22589738;22939624;23303246;23472165;23793025;24209692 283455 E9PB13;Q6VAB6 ABBA01020031;ABBA01020032;ABBA01020033;ABBA01020034;ABBA01020035;ABBA01020036;ABBA01020037;ABBA01020038;ABBA01020039;ABBA01020040;ABBA01020041;ABBA01020042;ABBA01020043;ABBA01020044;AC073864;AC079127;AC084291;AC092936;AC127166;AK098831;AMYH02027315;AMYH02027316;AMYH02027317;AMYH02027318;AMYH02027319;AMYH02027320;AMYH02027321;AMYH02027322;AMYH02027323;AY345972;BC107106;BC107107;BC127603;BX648958;CH471054;CQ893713;DW009880;DW009881;NM_173598;XM_006719357 AAI07107;AAI07108;AAI27604;AAQ24226;BAC05426;CAH68720;EAW98111;EAW98112;NP_775869;Q6VAB6;XP_006719420 Hs.375836 1339432;1732598;1736306;1746251;1746751;1746795;1746847;1746849;1749019;1749063;1750575;1759329;1760849;1760963;1763917;1766859;1772889;1782660;2123975;2134363;2161234;2180850;2182358 AFMa184zf5;D12S1246E;D12S1720;D12S1780;D12S1974;D12S810;D8S2109;G17626;G64589;G64753;G64754;G64843;G64860;SHGC-110659;SHGC-110724;SHGC-111879;SHGC-144516;SHGC-144921;SHGC-147582;SHGC-149743;SHGC-151170;SHGC-152266;WI-7483 FLJ25965;hKSR2 OTTHUMP00000239951;kinase suppressor of Ras-2 protein-coding ENSG00000171435 HGNC:18610 13952 610737 VALIDATED 1352277 KSS Kearns-Sayre syndrome 3894 HGNC:6466 1603926 KTI12 KTI12 homolog, chromatin associated (S. cerevisiae) ENCODES a protein that exhibits ATP binding (inferred); INTERACTS WITH copper(2+) sulfate; formaldehyde; quercetin 1 1 1 p32.3 50785258 50786954 - 52497777 52499472 - 52032105 52033800 - 6480464 11929532;12477932;21139048;22505724 112970 Q96EK9 ABBA01074781;AF327348;AK313746;AL445685;AMYH02001008;BC012173;BI909162;CH471059;NM_138417 AAH12173;AAL56009;ABM83165;ABM86365;BAG36486;EAX06801;NP_612426;Q96EK9 Hs.476033 1666982;1846930;1846932;1854432 A001V30;A004C17;G07351;G19690 MGC20419;RP11-91A18.3;SBBI81;TOT4 OTTHUMP00000010301;protein KTI12 homolog protein-coding ENSG00000198841 HGNC:25160 14471 VALIDATED 1343201 KTN1 kinectin 1 (kinesin receptor) This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012] 14 14 14 q22.1 36096260 36200637 + 56046925 56151302 + 55580207 55684584 + 6480464;8554872 10692099;10850414;10913441;11058868;11162552;11329013;11689693;11973345;12477932;12508121;12773547;12773565;14702039;14743216;15060627;15489334;16344560;16890462;16950774;17013387;17081983;17370265;17620599;18029348;19472918;19596686;19615732;19946888;20379614;20936779;21111237;21139048;21305317;21693764;21890473;21906983;22184201;22261722;22679391;22863883;22939629;23000965;23402259;24457600;24583282;24816145;7584026;7584028;7787243;7787244;8039706;8575822;8769096;8889548;9535835;9605849 3895 B7Z6P3;G3V475;G3V4L8;G3V4Y7;G3V5G2;G3V5P0;G3V5Q0;H0YJB7;H0YJP2;H0YJV5;H0YJZ8;Q86UP2 ABBA01018214;ABBA01018215;ABBA01018216;AJ270687;AK055870;AK124180;AK125499;AK300703;AK302797;AK308272;AK309840;AL138499;AMYH02029242;AY264265;AY536375;BC050555;BC058736;BC066337;BC104648;BC112337;BC117132;BC143720;BG206718;BM981127;BQ014936;BX537523;BX537639;CH471061;D13629;DA452468;DA769269;L25616;NM_001079521;NM_001079522;NM_001271014;NM_004986;NR_073128;NR_073129;XM_006720138;XM_006720139;XM_006720140;XM_006720141;Z22551 AAB65853;AAH50555;AAH58736;AAH66337;AAI04649;AAI12338;AAI17133;AAI43721;AAP20418;AAT66048;BAA02794;BAG51588;BAG54208;BAG64000;BAH13329;CAA80271;EAW80681;EAW80682;EAW80683;EAW80684;EAW80685;NP_001072989;NP_001072990;NP_001257943;NP_004977;Q86UP2;XP_006720201;XP_006720202;XP_006720203;XP_006720204 Hs.509414 1657870;1665202;1674822;1753105;2110481;2153757;5095311 G36019;KTN1;KTN1_8432;RH25245;SGC30666;SHGC-68629;WI-11582 CG1;KIAA0004;KNT;MGC133337;MU-RMS-40.19 CG-1 antigen;OTTHUMP00000179009;OTTHUMP00000179010;OTTHUMP00000179011;OTTHUMP00000179012;OTTHUMP00000179013;kinectin;kinesin receptor APPROVED protein-coding ENSG00000126777 HGNC:6467 02661 600381 REVIEWED 1353594 KTN1-AS1 KTN1 antisense RNA 1 INTERACTS WITH all-trans-retinoic acid; paracetamol 14 14 14 q22.3 36092210 36096145 - 56027807 56046810 - 55576157 55580092 - 6480464 16344560 100129075 Q86SY8 ABBA01018212;AK124927;AL138499;AL356801;AMYH02029242;BX248296;DA616132;HG506226;HG506227;HG506228;HG506229;JX046911;JX628584;NR_027123 CAD62624;Q86SY8 Hs.633724 1731627;1850541;1852138;1858032;2117041;2134674;2159631;2170352;5020948;5022450;5109281;5117897 D10S275;D14S1282;D14S178;D1S1425;G19269;G35473;G35510;G35735;G36085;G36088;GDB:631813;SHGC-34478 C14orf33 APPROVED ncrna ENSG00000186615 HGNC:19842 VALIDATED 8663364 KU-MEL-3 uncharacterized LOC497048 6 p25.1 4610846 4612153 + 12477932;15614040 497048 AL034376;AY870321;BC130651;BC130655;CH471087;NR_122107;XR_108704;XR_112821;XR_171549 AAI30652;AAI30656;AAW58142;EAW55167 Hs.591355 2116751 STS-N21216 ncrna 17255 VALIDATED 1350027 KWE keratolytic winter erythema (Oudtshoorn skin disease) ASSOCIATED WITH Keratolytic winter erythema (inferred) 7240710 9311742 3896 HGNC:6468 148370 1601969 KXD1 KxDL motif containing 1 INVOLVED IN vesicle-mediated transport (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN BLOC-1 complex (ortholog); INTERACTS WITH valproic acid 19 19 19 p13.11 18570781 18582406 + 18668572 18680197 + 18557762 18569387 + 6480464;8554872 12477932;14702039;16189514;16341674;16344560;17207965;18854154;21159114;21988832;22554196;22558309;24250222 79036 M0QX74;M0QXN9;M0QXP3;M0QY77;M0R0B4;M0R228;M0R2G3;Q9BQD3 ABBA01051271;ABBA01051272;AC005253;AF173381;AK091145;AK098346;AK125365;AMYH02035735;BC001080;BC006479;BM781878;BX648739;CH471106;DA542130;DA616317;NM_001171948;NM_001171949;NM_024069;XM_005260073;XM_006722883 AAC25583;AAH01080;AAH06479;AAQ13622;ADQ32857;EAW84712;EAW84713;EAW84714;NP_001165419;NP_001165420;NP_076974;Q9BQD3;XP_005260130;XP_006722946 Hs.714548 1660682;5016478;5037552 D8S2279;GDB:434012;WI-13411 C19orf50;DKFZp686B1038;FLJ25480;FLJ43375;KXDL;MGC2749;MST096;MSTP096 UPF0459 protein C19orf50;hypothetical protein LOC79036;kxDL motif-containing protein 1 APPROVED protein-coding ENSG00000105700 HGNC:28420 14526 615178 VALIDATED 1313421 KY kyphoscoliosis peptidase ENCODES a protein that exhibits peptidase activity (inferred); INVOLVED IN muscle organ development (inferred); neuromuscular junction development (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Z disc (ortholog); INTERACTS WITH 17beta-estradiol (ortholog); C60 fullerene (ortholog); cocaine (ortholog) 3 3 3 q22.2 132744525 132796369 - 134318765 134370522 - 134599923 134651680 - 6480464;8554872 12477932;14702039;15385448;16344560;20379614 339855 B4DGA7;Q8NBH2 ABBA01059151;AC016931;AC109912;AF086360;AK090526;AK126993;AK293840;AK294500;AMYH02007723;BC024014;BC037842;BC136349;CH471052;DA212239;DA238247;NM_178554;XM_005247417;XM_005247418;XM_006713612 BAC03471;BAC86780;BAG57718;BAH11610;EAW79131;EAW79132;EAW79133;NP_848649;Q8NBH2;XP_005247474;XP_005247475;XP_006713675 Hs.146730 1696740;1705494;1750087 SHGC-112333;SHGC-77924;SHGC-83837 FLJ33207 OTTHUMP00000216501;OTTHUMP00000216502;OTTHUMP00000216503 protein-coding HGNC:26576 13953 605739 VALIDATED 734173 KYNU kynureninase Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] 2 2 2 q22.2 137347656 137512293 + 143506497 143799885 + 142877626 143042316 + 70787;1580863;2290313;2290312;2303721;6480464;6907045;8554872 3400092;6466295;7236232;9180257 11985583;12477932;14704851;16080802;16712791;17207965;17334708;18029348;18781797;1939450;20379614;20877624;21890473;21963094;21987572;22012986;22863883;22939629;23503679;6468727;8125298;8706755;9291104 8942 B8ZZA3;F8WEP1;Q16719 ABBA01028075;ABBA01028076;ABBA01028077;ABBA01028078;ABBA01028079;ABBA01028080;AC013437;AC013444;AK223426;AK290900;AK292095;AK315343;AL548658;AMYH02004910;AMYH02004911;AMYH02004912;AMYH02004913;AW290980;AW296221;BC000879;CB151988;CH471058;CR457423;NG_023254;NM_001032998;NM_001199241;NM_003937;U57721 AAC50650;AAH00879;AAX93159;AAY14727;ADQ32345;BAD97146;BAF83589;BAF84784;BAG37742;CAG33704;EAX11599;EAX11600;EAX11601;NP_001028170;NP_001186170;NP_003928;Q16719 Hs.470126 1664441;1754393;2143513;2166564 A004C41;SHGC-132405;SHGC-33569;WI-11702 KYNU {ECO:0000255|HAMAP-Rule:MF_03017};L-kynurenine hydrolase {ECO:0000255|HAMAP-Rule:MF_03017};OTTHUMP00000162647;OTTHUMP00000204304;OTTHUMP00000204305;kynureninase (L-kynurenine hydrolase);kynureninase {ECO:0000255|HAMAP-Rule:MF_03017};l-kynurenine hydrolase APPROVED protein-coding ENSG00000115919 HGNC:6469 08940 605197 REVIEWED 4889239 KYNUP1 kynureninase pseudogene 1 17 17 17 p11.2 8207 10177 - 19070571 19072541 - 19167258 19169228 - 729321 AC007952;NG_022445 pseudo HGNC:39199 INFERRED 4889240 KYNUP2 kynureninase pseudogene 2 17 17 17 p11.2 8207 10177 - 18986174 18988144 + 19082861 19084831 + 729310 ABBA01187317;AC007952;AMYH02033141;AMYH02033142;NG_022458 pseudo HGNC:39200 INFERRED 4889238 KYNUP3 kynureninase pseudogene 3 17 17 17 p11.2 8207 10177 - 19112346 19114310 + 19209033 19210997 + 729323 AC106017;NG_022459 pseudo HGNC:39201 INFERRED 1352608 L1CAM L1 cell adhesion molecule The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013] X X X q28 153360655 153375083 - 153126969 153151628 - 153861514 153886174 - 1580863;6480464;6483445;6483456;6483012;6483033;6483035;6483075;6483078;6483011;6483044;6483447;6483449;6483061;6483010;6483013;6483029;6483043;6483073;6483067;6483092;6483084;7240710;8554872;8699517 13678974;16298234;16424028;17093074;17640175;17873897;18430502;19565280;19746433;19995872;20018220;20162456;20419098;21376041;21395909;21671795;22186713;22349829;7920659;7920660 10495434;10611478;10797421;10805190;10871287;10934197;11222639;11393533;11425011;11438988;11770884;11857550;11897831;12070130;12082080;12139915;12435569;12477932;12490317;12524354;12558975;12725590;12777533;12942088;12957823;1303258;14657231;14718570;15128735;15146195;15148591;15368500;15489334;15609076;15647482;15716380;15772651;15790807;15820228;16000162;16020776;16169070;16229685;1627459;16335952;16344560;16377081;16400320;16401420;16506207;16650080;16650578;16816908;17081983;17211730;17294222;17328266;17420921;1769655;17699774;17952127;18059459;18090124;18332088;18386459;18483249;18555990;18676824;1870106;18701456;18781797;18847309;18931829;18972120;19018795;19086053;19165527;1923824;19260824;19273627;1932117;19343046;19401151;19414364;19435915;19523119;19581412;19617634;19639167;19641926;19661372;19720049;19787228;19909241;19913121;19920102;1993895;20237819;20301612;20301657;20301682;20447653;20501614;20501702;20621658;20628086;20799950;20811670;20940017;21094640;21097529;21123622;21139048;21195422;21195665;21271669;21318226;21367865;21496863;21541352;21600041;21685041;21688291;21860410;21884209;21957033;21963094;21985405;21987572;22088438;22095073;22176577;22222883;22228447;22246010;22248567;22268729;22305014;22307136;22344793;22354677;22370595;22472175;22544341;22554690;22648184;22677742;22711166;22718627;22764136;22796939;22815787;22846990;22859744;22869145;22888955;22904263;22911547;22948185;22973895;22983139;23048039;23212305;23267165;23399902;23530769;23781004;2387585;24002299;24140408;24155914;24166603;24422715;3136168;7513709;7562969;7595520;7762552;7881431;8401576;8509458;8556302;8592152;8663493;8898967;8929944;8947027;8956051;9118141;9195224;9268105;9300653;9479034;9521424;9570805;9744477;9832035;9832558;9837910 3897 E7EMY4;E7EPI4;E7EVM4;E9PHJ4;H0Y5C3;H3BLW5;P32004 AB101921;AB101922;AB101923;AB101924;AB101925;AB101926;AB101927;AB101928;AB101929;AB101930;AB101931;AB101932;AB101933;AB101934;AB101935;AB101936;AB101937;AB101938;AB101939;AB101940;AB101951;AB101952;AB101953;AB101954;AB101955;AB101956;AB101957;AB101958;AB101959;AB101960;AB101961;AB101962;AB101963;AB101964;AB101965;AB101966;AB101967;AB101968;AB101969;AB101970;AB101981;AB101982;AB101983;AB101984;AB101985;AB101986;AB101987;AB101988;AB101989;AB101990;AB101991;AB101992;AB101993;AB101994;AB101995;AB101996;AB101997;AB101998;AB101999;AB102000;AB102011;AB102012;AB102013;AB102014;AB102015;AB102016;AB102017;AB102018;AB102019;AB102020;AB102021;AB102022;AB102023;AB102024;AB102025;AB102026;AB102027;AB102028;AB102029;AB102030;AB102041;AB102042;AB102043;AB102044;AB102045;AB102046;AB102047;AB102048;AB102049;AB102050;AB102051;AB102052;AB102053;AB102054;AB102055;AB102056;AB102057;AB102058;AB102059;AB102060;AB102071;AB102072;AB102073;AB102074;AB102075;AB102076;AB102077;AB102078;AB102079;AB102080;AB102081;AB102082;AB102083;AB102084;AB102085;AB102086;AB102087;AB102088;AB102089;AB102090;AB102101;AB102102;AB102103;AB102104;AB102105;AB102106;AB102107;AB102108;AB102109;AB102110;AB102111;AB102112;AB102113;AB102114;AB102115;AB102116;AB102117;AB102118;AB102119;AB102120;AB102653;ABBA01045346;ABBA01045347;AI361399;AK289754;AMYH02040846;AMYH02040847;AMYH02040848;AY167680;AY167681;AY167682;AY167683;AY167684;AY167685;AY167686;AY167687;AY167688;AY167689;AY167690;AY167691;AY167692;AY167693;AY167694;AY167695;AY167696;AY167697;AY167698;AY167699;AY167700;AY167701;AY167702;AY167703;AY167704;AY167705;AY167706;AY167707;AY167708;AY167709;AY167710;AY167711;AY167712;AY167713;AY167714;AY167715;AY167716;AY167717;AY167718;AY167719;AY167720;AY167721;AY167722;AY167723;AY167724;AY167725;AY167726;AY927629;BC025843;BC126229;BC136447;CH471172;DA122729;DQ173589;DQ173592;DQ173593;DQ173594;DQ173595;DQ173596;DQ173597;DQ173598;DQ173599;DQ173600;DQ173601;DQ173602;DQ173603;DQ173604;DQ173605;DQ173606;DQ173607;DQ173608;DQ173609;DQ173610;DQ173611;DQ173612;DQ173613;DQ173614;DQ173615;DQ173616;DQ173617;DQ173618;DQ173619;DQ173620;DQ173621;DQ173622;DQ173623;DQ173624;DQ173625;DQ173626;DQ173627;DQ173628;DQ173629;DQ173630;DQ173631;DQ173632;DQ173633;DQ173634;DQ173635;DQ173636;DQ173637;DQ173638;DQ173639;DQ173640;DQ173641;DQ173642;EF506611;FO681481;HY119527;KF459515;M55271;M74387;M77640;NG_009645;NM_000425;NM_001143963;NM_001278116;NM_024003;U52111;U52112;X58775;X58776;X59847;X67912;Z29373 AAA36353;AAA59476;AAC14352;AAH25843;AAI26230;AAI36448;AAO17583;AAO17584;AAO17585;AAO17586;AAO17587;AAO17588;AAO17589;AAO17590;AAO17591;AAO17592;AAO17593;AAO17594;AAO17595;AAO17596;AAO17597;AAO17598;AAO17599;AAO17600;AAO17601;AAO17602;AAO17603;AAO17604;AAO17605;AAO17606;AAO17607;AAO17608;AAO17609;AAO17610;AAO17611;AAO17612;AAO17613;AAO17614;AAO17615;AAO17616;AAO17617;AAO17618;AAO17619;AAO17620;AAO17621;AAO17622;AAO17623;AAO17624;AAO17625;AAO17626;AAO17627;AAO17628;AAO17629;ABB58724;ABC25730;ABC25735;ABC25740;ABC25745;ABC25750;ABC25755;ABC25759;ABC25764;ABC25769;ABC25774;ABC25779;ABC25784;ABC25789;ABC25794;ABC25799;ABC25804;ABC25809;ABC25814;ABC25819;ABC25824;ABC25829;ABC25834;ABC25839;ABC25844;ABC25849;ABC25854;ABC25859;ABC25864;ABC25869;ABC25874;ABC25879;ABC25884;ABC25889;ABC25894;ABC25899;ABC25904;ABC25909;ABC25914;ABC25919;ABC25924;ABC25929;ABC25934;ABC25939;ABC25944;ABC25949;ABC25954;ABC25959;ABC25964;ABC25969;ABC25974;ABC25979;ABP88252;BAC80480;BAC80481;BAC80482;BAC80483;BAC80484;BAC80485;BAC80486;BAC80487;BAC80488;BAC80489;BAC80490;BAC80491;BAC80492;BAC80493;BAC80494;BAC80495;BAC80496;BAC80497;BAC80498;BAC80499;BAC80510;BAC80511;BAC80512;BAC80513;BAC80514;BAC80515;BAC80516;BAC80517;BAC80518;BAC80519;BAC80520;BAC80521;BAC80522;BAC80523;BAC80524;BAC80525;BAC80526;BAC80527;BAC80528;BAC80529;BAC80540;BAC80541;BAC80542;BAC80543;BAC80544;BAC80545;BAC80546;BAC80547;BAC80548;BAC80549;BAC80550;BAC80551;BAC80552;BAC80553;BAC80554;BAC80555;BAC80556;BAC80557;BAC80558;BAC80559;BAC80570;BAC80571;BAC80572;BAC80573;BAC80574;BAC80575;BAC80576;BAC80577;BAC80578;BAC80579;BAC80580;BAC80581;BAC80582;BAC80583;BAC80584;BAC80585;BAC80586;BAC80587;BAC80588;BAC80589;BAC80600;BAC80601;BAC80602;BAC80603;BAC80604;BAC80605;BAC80606;BAC80607;BAC80608;BAC80609;BAC80610;BAC80611;BAC80612;BAC80613;BAC80614;BAC80615;BAC80616;BAC80617;BAC80618;BAC80619;BAC80630;BAC80631;BAC80632;BAC80633;BAC80634;BAC80635;BAC80636;BAC80637;BAC80638;BAC80639;BAC80640;BAC80641;BAC80642;BAC80643;BAC80644;BAC80645;BAC80646;BAC80647;BAC80648;BAC80649;BAC80660;BAC80661;BAC80662;BAC80663;BAC80664;BAC80665;BAC80666;BAC80667;BAC80668;BAC80669;BAC80670;BAC80671;BAC80672;BAC80673;BAC80674;BAC80675;BAC80676;BAC80677;BAC80678;BAC80679;BAC81122;BAF82443;CAA41576;CAA42508;CAA82564;CAB37831;EAW72787;EAW72788;EAW72789;NP_000416;NP_001137435;NP_001265045;NP_076493;P32004 Hs.522818 1677646;1697598;1702116;1745481;1745483;1745485;1745487;1745489;1745491;1745493;1745495;1745497;1745499;1745501;1745503;1745505;1745507;1745509;1745511;1745513;1745515;1745517;1745519;1745521;1745523;1745525;1745527;1745529;1745531;1798536;1798768;1798872;1800454;1800648;1801248;1801368;1802534;1802794;1802848;1802906;1803970;1804822;1805934;1821048;1825200;1825668;1848234;2033816;2033818;2033820;2033822;2033824;2033826;2033828;2033830;2033832;2033834;2033836;2033838;2033840;2033842;2033844;2033846;2033848;2033850;2033852;2033854;2033856;2033858;2033860;2033862;2033864;2033866;2033868;2033870;2033872;2033874;2033876;2033878;2033880;2033882;2033884;2033886;2033888;2033890;2033892;2033894;2033896;2033898;2033900;2033902;2033904;2033906;2033908;2033910;2033912;2033914;2033916;2033918;2033920;2033922;2033924;2033926;2033928;2033930;2033932;2033934;2033936;2033938;2033940;2033942;2033944;2033946;2033948;2033950;2033952;2033954;2033956;2033958;2033960;2102056;2102058;2102060;2102062;2102064;2102066;2102068;2102070;2102072 ECD00106;ECD00224;ECD00276;ECD01087;ECD01185;ECD01496;ECD01556;ECD02153;ECD02284;ECD02312;ECD02342;ECD02899;ECD03345;ECD03920;ECD11601;ECD13701;ECD13942;GDB:381859;GDB:618098;GDB:618230;GDB:618289;GDB:618293;GDB:618341;GDB:618400;GDB:618484;GDB:618487;GDB:618831;GDB:618836;GDB:618839;GDB:618842;GDB:618846;GDB:618849;GDB:618851;GDB:618866;GDB:619117;GDB:619157;GDB:619161;GDB:623452;GDB:623456;GDB:623463;GDB:623467;GDB:623470;GDB:623474;GDB:623477;REN87917;REN87918;REN87919;REN87920;REN87921;REN87922;REN87923;REN87924;REN87925;REN87926;REN87927;REN87928;REN87929;REN87930;REN87931;REN87932;REN87933;REN87934;REN87935;REN87936;REN87937;REN87938;REN87939;REN87940;REN87941;REN87942;REN87943;REN87944;REN87945;REN87946;REN87947;REN87948;REN87949;REN87950;REN87951;REN87952;REN87953;REN87954;REN87955;REN87956;REN87957;REN87958;REN87959;REN87960;REN87961;REN87962;REN87963;REN87964;REN87965;REN87966;REN87967;REN87968;REN87969;REN87970;REN87971;REN87972;REN87973;REN87974;REN87975;REN87976;REN87977;REN87978;REN87979;REN87980;REN87981;REN87982;REN87983;REN87984;REN87985;REN87986;REN87987;REN87988;REN87989;RH102310;RH80837;STS-M74387;stSG603648;stSG603649;stSG603650;stSG603651;stSG603652;stSG603653;stSG603655;stSG603656;stSG603657 CAML1;CD171;HSAS;HSAS1;MASA;MIC5;N-CAM-L1;N-CAML1;NCAM-L1;S10;SPG1 OTTHUMP00000025992;OTTHUMP00000025993;OTTHUMP00000063091;antigen identified by monoclonal antibody R1;neural cell adhesion molecule L1 APPROVED protein-coding ENSG00000198910 HGNC:6470 02394 303350;304100;307000;308840 REVIEWED 1603640 L1TD1 LINE-1 type transposase domain containing 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 5-fluorouracil; all-trans-retinoic acid 1 1 1 p31.3 60949488 60966989 + 62660474 62678000 + 62194802 62212328 + 6480464;8554872 12477932;14702039;15146197;15231748;18842996;21445976;21559406;22162396;23179365;23415968;8889548 54596 Q5T7N2 AB211065;ABBA01074607;ABBA01074608;AK001746;AK001973;AL162739;AL834314;AMYH02001138;AMYH02001139;BC012555;BC060808;BC111559;BQ429140;BU677875;BX382228;CH471059;CN428323;CX166941;CX167172;DR005055;NM_001164835;NM_019079 AAI11560;BAA91878;BAA92011;BAD95492;CAD38984;EAX06590;NP_001158307;NP_061952;Q5T7N2 Hs.685462 1672208;5014051;5015619;5022200;5022588;5037552 D11S3114;D1S2476;D5S1597E;D8S2278;D8S2279;L18426 ECAT11;FLJ10884;MGC133253;RP5-1155K23.3 ES cell-associated protein 11;LINE-1 type transposase domain-containing protein 1;OTTHUMP00000010477 protein-coding ENSG00000240563 HGNC:25595 07708 VALIDATED 7343904 L1TD1P1 LINE-1 type transposase domain containing 1 pseudogene 1 13 13 13 q 83511704 83513932 - 102668922 102671150 - 102016572 102018800 - 100126007 ABBA01027078;AL512629;AMYH02028623;NG_006963 pseudo HGNC:49127 INFERRED 1314761 L2HGDH L-2-hydroxyglutarate dehydrogenase This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. [provided by RefSeq, Jul 2008] 14 14 14 q21.3 30576287 30646077 - 50704285 50778947 - 50242434 50312229 - 6480464;6907045;7240710;8554872;8699517 12477932;14702039;15385440;15489334;15548604;16005139;16134148;17876720;18362286;18415700;18671189;18780161;19911013;20020533;20052767;20727073;20852250;20877624;21139048;21625441;24347629;24501781;24606602;24816145;25027693;6787330;8241290 79944 C9JVN9;G3V272;G3V3E2;G3V5S1;Q9H9P8 ABBA01018131;AK022680;AK292627;AK309294;AL109758;AL359397;AMYH02029166;AMYH02029167;AMYH02029168;AX879594;AY757363;BC006117;CA424871;CH471078;NG_008092;NM_024884;XM_005268075;XM_005268077 AAH06117;AAV52330;ADZ15391;BAB14174;BAF85316;CAE90580;EAW65725;NP_079160;Q9H9P8;XP_005268132;XP_005268134 Hs.256034 1768683;2146838;2165719;5022200 G35689;G35769;L18426;RH44101 C14orf160;FLJ12618 2-hydroxyglutarate dehydrogenase;L-2-hydroxyglutarate dehydrogenase, mitochondrial;L-alpha-hydroxyglutarate dehydrogenase;OTTHUMP00000178967;OTTHUMP00000178968;OTTHUMP00000244606;alpha-hydroxyglutarate oxidoreductase;alpha-ketoglutarate reductase;duranin APPROVED protein-coding ENSG00000087299 HGNC:20499 12640 236792;609584 REVIEWED 1313918 L3HYPDH L-3-hydroxyproline dehydratase (trans-) ENCODES a protein that exhibits hydro-lyase activity; INVOLVED IN metabolic process; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH calcitriol; paracetamol; 2,2',4,4',5,5'-hexachlorobiphenyl (ortholog) 14 14 14 q23.1 39988476 40000143 - 59925698 59951281 - 59458966 59484473 - 6480464;8554872 12477932;20379614;22528483;22939629 112849 D6RC46;E9PKK7;Q96EM0 ABBA01018270;AK058165;AL159140;AMYH02029290;BC012131;CH471061;NM_144581;XM_005267298;XM_006720016;XR_245659;XR_245660;XR_245661 AAH12131;BAB71696;EAW80752;NP_653182;Q96EM0;XP_005267355;XP_006720079 Hs.729061 1681294 RH98979 C14orf149;FLJ25436 OTTHUMP00000028034;OTTHUMP00000218012;probable proline racemase;proline racemase-like;trans-3-hydroxy-l-proline dehydratase;trans-3-hydroxyl-L-proline dehydratase;trans-L-3-hydroxyproline dehydratase APPROVED protein-coding ENSG00000126790 HGNC:20488 08065 614811 PROVISIONAL 1344736 L3MBTL1 l(3)mbt-like 1 (Drosophila) This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] 20 20 20 q13.12 38850523 38878002 + 42136320 42179590 + 43507680 43541895 + 1580863;6480464;9479074;8661237;8554872;8661242 23642229;24002223;24326623 10445843;10737800;11549316;11780052;12477932;12588862;12842041;15123827;15334543;15489334;15566354;15790807;16344560;17540172;18026117;18042461;18408754;18474616;19144645;20585043;20870725;21149733;21341991;21837478;22120668;23652004;24243547;24250222;8889548;9734811 26013 B0QYN4;B0QYN5;H0Y7I2;Q9Y468 AB014581;ABBA01052617;ABBA01052618;ABBA01052619;AK123176;AK299199;AK308334;AK310345;AL031681;AL110279;AMYH02037113;BC034398;BC039820;BG956397;BI040370;BU741824;CH471077;DA204976;DR003568;NG_009238;NM_015478;NM_032107;R42592;Z98752 AAH39820;ABZ92019;BAA31656;BAC85548;BAG61241;CAB53714;EAW75957;EAW75958;EAW75959;EAW75960;EAW75961;EAW75962;NP_056293;NP_115479;Q9Y468 Hs.709356;Hs.736988 1662978;1663505;1721621;1767244;1772097;1856460;2219886;5020948 D20S1121;D20S721;G35510;G59821;L3MBTL__6365;RH69623;SHGC-24255;Z94467 DKFZp586P1522;FLJ41181;H-L(3)MBT;KIAA0681;L3MBTL;ZC2HC3;dJ138B7.3 OTTHUMP00000031022;OTTHUMP00000031024;OTTHUMP00000031026;OTTHUMP00000197636;l(3)mbt protein homolog;lethal (3) malignant brain tumor l(3);lethal(3)malignant brain tumor-like protein;lethal(3)malignant brain tumor-like protein 1 APPROVED protein-coding ENSG00000185513 HGNC:15905 16387 608802 REVIEWED 1318418 L3MBTL2 l(3)mbt-like 2 (Drosophila) ENCODES a protein that exhibits histone binding; methylated histone binding; INVOLVED IN chromatin modification (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus; INTERACTS WITH aflatoxin B1; trichostatin A; 17alpha-ethynylestradiol (ortholog) 22 22 22 q13.31-q13.33 25407662 25433655 + 41601312 41627276 + 41205309 41231271 + 1580863;6480464 10591208;11076863;11230166;11256614;11682070;12004135;12477932;14702039;15461802;15489334;15489336;16189514;16381901;17540172;18029348;19233876;19241375;19471022;20360068;20385135;21549307;21596310;21693764;21988832;22325352;24369422;24457600;24654937;25027693 83746 F8WBL1;H0Y5M2;H7C228;Q969R5 ABBA01055624;ABBA01055625;ABBA01055626;AJ305226;AJ305227;AK056443;AK074091;AK097052;AK307763;AL035658;AL035681;AL136564;AMYH02038430;AMYH02038431;BC017191;BU184979;CH471095;CR456482;NM_031488 AAH17191;ABM83238;ABM86438;BAB84917;BAC04936;BAG51710;CAB66499;CAC37794;CAC37795;CAG30368;CAK54463;CAK54762;CAL37685;CAL38517;EAW60410;EAW60411;EAW60412;EAW60413;EAW60414;EAW60415;EAW60416;NP_113676;Q969R5 Hs.517641 1694778;1847627;2189455;5016596;7186361 D22S1539;G43605;GDB:631802;MARC_6537-6538:992007286:1 H-l(3)mbt-l;L3MBT H-l(3)mbt-like protein 2;L(3)mbt-like protein 2;OTTHUMP00000198763;OTTHUMP00000198764;lethal(3)malignant brain tumor-like protein 2 protein-coding ENSG00000100395 HGNC:18594 13954 611865 VALIDATED 1313522 L3MBTL3 l(3)mbt-like 3 (Drosophila) INVOLVED IN chromatin modification (inferred); erythrocyte maturation (inferred); granulocyte differentiation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 8-bromo-3',5'-cyclic AMP; calcitriol 6 6 6 q23 131086140 131209005 + 130339728 130462594 + 130018583 130141449 + 6480464;8554872 11347906;12477932;14574404;14702039;15489334;15889154;16344560;17081983;18391951;19001729;20211142;20881960;21890473;21906983;23455924;23563607;24163370;24250222;24722188 84456 E9PI01;E9PLL7;Q96JM7 AB058701;ABBA01025901;ABBA01025902;ABBA01025903;ABBA01025904;AI123736;AK092756;AK094137;AK290219;AL355581;AL356579;AL583846;AMYH02014473;AMYH02014474;AMYH02014475;AMYH02014476;BC060845;CF529850;CH471051;DA927626;DB059438;NM_001007102;NM_032438;XM_005267161;XM_006715576;XM_006715577;XM_006715578 AAH60845;ABZ92070;ADR82676;BAB47427;BAF82908;EAW48073;EAW48074;NP_001007103;NP_115814;Q96JM7;XP_005267218;XP_006715639;XP_006715640;XP_006715641 Hs.658051 1689666;1707202;1756183;2107261;2149844 L3MBTL3__7423;RH98682;SHGC-143035;SHGC-79187;STS-N22856 MBT-1;MBT1;RP11-73O6.1 H-l(3)mbt-like protein 3;OTTHUMP00000017192;OTTHUMP00000233102;OTTHUMP00000233145;OTTHUMP00000233146;OTTHUMP00000233147;l(3)mbt-like protein 3;lethal(3)malignant brain tumor-like protein 3 protein-coding ENSG00000198945 HGNC:23035 11222 VALIDATED 1353313 L3MBTL4 l(3)mbt-like 4 (Drosophila) ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); zinc ion binding (inferred); INVOLVED IN chromatin modification (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cyclosporin A 18 18 18 p11.31 5840619 6300202 - 5954705 6414910 - 5954706 6414911 - 737633;1580863;6480464;8554872 12477932 14702039;19913121;20379614;20628086;20694011;20698951;21832049;23728906;2444974;8889548 91133 F8W9S8;J3KRN7;J3KS41;J3QLK8;Q8NA19 ABBA01049887;ABBA01049888;ABBA01049889;ABBA01049890;ABBA01049891;ABBA01049892;ABBA01049893;ABBA01049894;ABBA01049895;AK026733;AK091075;AK093255;AMYH02034251;AMYH02034252;AMYH02034253;AMYH02034254;AP000874;AP001021;AP005060;AP005228;BC039316;CA313345;CH471113;DB455331;NM_173464;XM_005258166;XM_005258168;XM_006722362;XM_006722363;XM_006722364;XM_006722365;XM_006722366;XR_430047 AAH39316;BAC04111;BAG52277;EAX01639;EAX01640;NP_775735;Q8NA19;XP_005258223;XP_005258225;XP_006722425;XP_006722426;XP_006722427;XP_006722428;XP_006722429 Hs.128279 1299911;1647840;1649455;1658306;1659903;1670415;1704028;1704496;1706038;1734576;1754893;1858564;2138841;2146226;2148024;2153763;2165964;2168612;2176417;5037552;5093768;5094755 A004U39;A006W22;A009W18;AFM238YG3;AGAT060;D18S471;D18S936E;D18S981;D8S2279;G18042;G31015;G32912;L18017;RH16507;RH36215;SHGC-141820;SHGC-2285;SHGC-34628;SHGC-77812;SHGC-78662;SHGC-83006;WI-14891 HsT1031 H-l(3)mbt-like protein 4;OTTHUMP00000162321;OTTHUMP00000162322;OTTHUMP00000162323;l(3)mbt-like protein 4;lethal(3)malignant brain tumor-like protein 4 protein-coding ENSG00000154655 HGNC:26677 08198 VALIDATED 9587341 L3MBTL4-AS1 L3MBTL4 antisense RNA 1 18 18 p11.31 6256706 6260933 + 6256707 6260934 + 101927150 ABBA01049890;AMYH02034254;AP000874;BC040631;BM923686;HG509705;NR_110765;XR_243822;XR_248439;XR_253757 ncrna HGNC:51320 VALIDATED 1602651 LACC1 laccase (multicopper oxidoreductase) domain containing 1 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 13 13 13 q14.11 25509562 25524213 + 44453420 44468068 + 43879284 43893932 + 6480464 12477932;14702039;15489334;16344560;16740638;17207965;18587394;19068216;19760754;19834535;20018961;20473688;21102463;22504414;23128233 144811 A2A3Z5;Q7Z395;Q8IV20 ABBA01021238;AK096044;AL512506;AMYH02027949;BC035749;BX503941;BX538036;CH471075;DA332005;DR001026;NM_001128303;NM_153218;XM_005266261;XM_006719766;XM_006719767 AAH35749;ADQ31766;BAC04686;CAD97980;EAX08701;NP_001121775;NP_694950;Q8IV20;XP_005266318;XP_006719829;XP_006719830 Hs.210586 C13orf31;DKFZp686D11119;FLJ38725;RP11-5G9.2 OTTHUMP00000178593;hypothetical protein LOC144811;laccase domain-containing protein 1 APPROVED protein-coding ENSG00000179630 HGNC:26789 08793 613409 VALIDATED 1349497 LACE1 lactation elevated 1 This gene encodes a protein with possible ATPase function. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. [provided by RefSeq, Jul 2008] 6 6 6 q22.1 109362234 109590401 + 108616098 108846751 + 108294894 108525548 + 6480464 12079282;12477932;18237552;19913121;20379614;20628086;20872768;20877624;23251661;23535732;24654937 246269 A6ZJA2;H0Y5F4;H7C448;Q8WV93 ABBA01026145;ABBA01026146;ABBA01026147;ABBA01026148;ABBA01026149;ABBA01026150;AF520418;AL139106;AL162721;AL353706;AL356121;AL832793;AMYH02014271;AMYH02014272;AMYH02014273;AMYH02014274;BC018445;CH471051;KF458241;KF510932;NM_145315;XM_005266885;Z98742 AAH18445;AAM74228;ADZ16107;EAW48375;EAW48376;EAW48377;NP_660358;Q8WV93;XP_005266942 Hs.259666 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AFG1 ATPase family gene 1 homolog;CG8520 gene product;OTTHUMP00000016943;OTTHUMP00000196344;lactation elevated protein 1;protein AFG1 homolog APPROVED protein-coding ENSG00000135537 HGNC:16411 11223 REVIEWED 1344511 LACRT lacritin The protein encoded by this gene is highly expressed in the lacrimal glands and localized primarily to secretory granules and secretory fluid. It augments lacrimal acinar cell secretion, promotes ductal cell proliferation, and stimulates signaling through tyrosine phosphorylation and release of calcium. [provided by RefSeq, Jul 2008] 12 12 12 q13 54676508 54680548 - 55024623 55028663 - 54630839 54634879 - 6480464;8554872 11419941;12477932;12613904;14574570;15489334;15851553;15952718;16488965;16740002;16865190;16923831;16982797;17207965;17850790;18334948;18840430;19714880;19770725;20375347;21139048;21832049;22118674;22736608;22871838;22918641;22956620;23272196;23308132;23422824;23425695;23482462;23504321;23640897;23748026;23769845;24163370;24550385 90070 F8W0V3;H0YI00;Q9GZZ8 ABBA01008377;AC079310;AF238867;AMYH02026537;AY005150;BC062217;BC069317;CH471054;CS072263;NM_033277 AAG32949;AAG44392;AAH62217;AAH69317;ADQ32912;CAI93401;EAW96793;NP_150593;Q9GZZ8 Hs.307096 MGC71934 OTTHUMP00000242493;OTTHUMP00000242494;extracellular glycoprotein lacritin APPROVED protein-coding ENSG00000135413 HGNC:16430 06302 607360 REVIEWED 1312433 LACTB lactamase, beta This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013] 15 15 15 q22.1 40293752 40313875 + 63413999 63434260 + 63121800 63142065 + 1580863;6480464 11551941;11707067;12164938;12477932;12975309;14702039;15489334;15840729;17081983;18029348;18226203;18344982;18538381;19322201;19858488;20686565;20877624;21139048;21886157;22990118;23042605;24097068;24816145;8889549 114294 H0YNN5;P83111 AA186367;ABBA01038919;AC087612;AI621121;AK027808;AMYH02030580;AY358709;BC037198;BC067288;BG250900;BU624474;CH471082;NM_001288585;NM_032857;NM_171846;XM_005254143;XR_429442 AAH67288;AAQ89072;BAB55384;EAW77637;EAW77638;NP_001275514;NP_116246;NP_741982;P83111;XP_005254200 Hs.410388 1335467;1646619;1646621;1690504;2161852;2186569;2186571;7186692 A005R42;A006I36;D15S159;G20452;G20855;G31564;RH91565 FLJ14902;G24;MRPL56 OTTHUMP00000163691;mitochondrial 39S ribosomal protein L56;mitochondrial ribosomal protein L56;serine beta lactamase-like protein LACTB;serine beta-lactamase-like protein LACTB, mitochondrial APPROVED protein-coding ENSG00000103642 HGNC:16468 07466 608440 REVIEWED 1317324 LACTB2 lactamase, beta 2 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (+)-catechin; (-)-demecolcine; (-)-epigallocatechin 3-gallate 8 8 8 q13.3 67547128 67579082 - 71549501 71581447 - 70637266 70669212 - 6480464 10810093;12477932;20877624;21139048;21906983;21988832;22939629;24654937;8125298 51110 Q53H82 ABBA01041941;ABBA01041942;AC022731;AF151841;AK222699;AK290201;AMYH02018179;BC000878;BC008505;CH471068;DB445101;NM_016027 AAD34078;AAH00878;ACE86632;ACE87314;BAD96419;BAF82890;EAW86969;EAW86970;NP_057111;Q53H82 Hs.118554 1646258;1786584;5016883 RH98763;SHGC-141879;SHGC-31052 CGI-83 OTTHUMP00000226691;OTTHUMP00000226692;beta-lactamase-like protein 2 protein-coding ENSG00000147592 HGNC:18512 13955 VALIDATED 3077861 LACTBL1 lactamase, beta-like 1 ASSOCIATED WITH Lung Neoplasms (inferred) 1 1 1 p36.12 21601685 21611819 - 23279536 23299524 - 22953043 22973031 - 8554872 16710414 646262 A8MY62;H0Y608 ABBA01059859;AL035704;AMYH02000481;AMYH02000482;NM_001289974;XM_003846221;XM_003846622;XM_003960118 A8MY62;NP_001276903;XP_003846269;XP_003846670;XP_003960167 1781546 SHGC-144018 OTTHUMP00000203816;Putative beta-lactamase-like protein ENSP00000383859;beta-lactamase-like protein ENSP00000383859-like;putative beta-lactamase-like 1 protein-coding ENSG00000215906 HGNC:35445 VALIDATED 1321680 LAD1 ladinin 1 The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008] 1 1 1 q25.1-q32.3 174473817 174492312 - 201349966 201368669 - 201380838 201399541 - 1580863;6480464 12477932;15778465;16083285;18029348;20830310;21832049;24457600;8618013;8618014;8983017;9119369;9665393;9804354 3898 E9PDI4;H0Y901;O00515 ABBA01027533;ABBA01027534;AC119427;AK310917;AK313388;AMYH02002477;BC009742;BC071890;BX647307;CH471067;NM_005558;U42408;U58994 AAB58817;AAD10849;AAH09742;AAH71890;ABM84582;ABM86734;BAG36186;CAH56166;EAW91363;EAW91364;NP_005549;O00515 Hs.519035 LadA;MGC10355;lad-1 OTTHUMP00000033878;OTTHUMP00000033879;ladinin-1;linear IgA bullous dermatosis antigen;linear IgA disease antigen homolog APPROVED protein-coding ENSG00000159166 HGNC:6472 03815 602314 REVIEWED 1344873 LAG3 lymphocyte-activation gene 3 Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided by RefSeq, Jul 2008] 12 12 12 p13.32 8498967 8504918 + 6881670 6887621 + 6772504 6778455 + 1580863;6480464 10545478;11592063;11937541;12477932;12775570;12825348;1380059;14644131;15674389;16519819;16757686;1692078;17020785;18322184;19773279;20228263;20237496;20331378;20385810;20421648;20568250;21441454;23261718;24441096;8097522;9159144;9382927;9634475;9780176 3902 P18627 A21353;AA687676;ABBA01017655;AC125494;AI274900;AK292104;AMYH02025955;BC037962;BC052589;CH471116;NM_002286;X51984;X51985;Y10211;Y13537;Y13586 AAH52589;BAF84793;CAA01547;CAA36242;CAA36243;CAA73914;EAW88740;EAW88741;NP_002277;P18627 Hs.409523 1777925;2139698;5125441 A21356;RH44859;RH71279 CD223 OTTHUMP00000240397;lymphocyte activation gene 3 protein APPROVED protein-coding ENSG00000089692 HGNC:6476 01077 153337 REVIEWED 1602901 LAGE3 L antigen family, member 3 This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008] X X X q28 153866292 153868647 - 153705241 153707596 - 154477769 154479257 - 6480464 12384295;12477932;15489334;15772651;17207965;17353931;18781797;21139048;21145461;21890473;21906983;22053931;22863883;22912744;22939629;23000965;23349634;23455922;24250222;24816145;25015289;8733135;8786131 8270 Q14657 ABBA01045276;AC244090;BC015744;BC019012;BC062330;BQ649305;BX936365;CH471172;NM_006014;X92896 AAH15744;AAH62330;ACE86897;ACE87584;ADQ32548;CAA63489;EAW72701;NP_006005;Q14657 Hs.444619 1817382;1817470;2037432;2037434;2037436;2037438;2037440;2037442;2037444;2037446;2037448;2037450;2037452;2037454;2037456;2037458;2037460;2037462;2037464;2037466;2037468;2037470;2037472;2102582;2102584;2102586;2173761 A008I20;ECD09741;ECD09785;REN89727;REN89728;REN89729;REN89730;REN89731;REN89732;REN89733;REN89734;REN89735;REN89736;REN89737;REN89738;REN89739;REN89740;REN89741;REN89742;REN89743;REN89744;REN89745;REN89746;REN89747;stSG604080;stSG604082;stSG604083 CVG5;DXS9879E;DXS9951E;ESO3;ITBA2 EKC/KEOPS complex subunit LAGE3;L antigen family member 3;OTTHUMP00000032119;protein ESO-3 APPROVED protein-coding ENSG00000196976 HGNC:26058 02087 300060 REVIEWED 9586212 LAGE3P1 L antigen family, member 3 pseudogene 1 9 9 9 p21.1 32950782 32956282 - 33019703 33020130 - 33019705 33020132 - 646808 ABBA01065072;AL162590;AMYH02019413;NG_030084 pseudo HGNC:49909 INFERRED 1344054 LAIR1 leukocyte-associated immunoglobulin-like receptor 1 The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 19 19 19 q13.4 51905911 51917397 - 54865235 54882241 - 54353625 54370553 - 6480464 10229813;10404045;10453657;10540327;10660620;10764762;10903717;11069054;11160222;12072189;12477932;12757266;14565933;14604962;14702039;15065762;15489334;15939744;15950745;16344560;16380958;16754721;17330824;17567994;17764536;18029348;18063695;18209062;18288129;18394348;19345263;19380792;20007810;20237496;20713462;21151495;21216234;21832049;21955987;21982860;22355402;22505724;23093673;23649467;23691008;23778340;24380839;24386309;24399813;24585933;24750832;9285412;9692876 3903 A8MZ84;C9IZB2;D3YTC8;F2Z3B9;F8WC07;Q6GTX8;W4VSQ5 ABBA01068164;ABBA01068165;ABBA01068166;AC008746;AC245884;AF013249;AF109683;AF251509;AF251510;AK093559;AK097869;AK290415;AK303261;AK309895;AK315419;BC027899;BI756388;BM918573;CA435919;CH471135;CR542051;CU104682;CU207370;CU467018;DA419411;DA462442;DA941174;DB134342;DB143367;DC379147;DC389365;DC390481;DC391314;HY279173;NM_001289023;NM_001289025;NM_001289026;NM_001289027;NM_002287;NM_021706;NR_110279;NR_110280;XM_005258920;XM_005258924;XM_005277109;XM_005277111;XM_005277309;XM_006726158 AAB69324;AAF17107;AAF71274;AAF71275;AAH27899;ABM82998;ABM86192;BAF83104;BAG37808;BAG53543;BAG64343;CAG46848;EAW72233;EAW72234;EAW72235;EAW72236;EAW72237;EAW72238;NP_001275952;NP_001275954;NP_001275955;NP_001275956;NP_002278;NP_068352;Q6GTX8;XP_005258977;XP_005258981;XP_005277166;XP_005277168;XP_005277366;XP_006726221 Hs.572535 1804772;1809568;1810484;1810622;1811314;1812740;1814616;1815228;1815882;1817080;1818650;1819998;1820914;1823052;1829216;1829218;1837402;1842584;1843538;1844524;2042990;2042992;2042994;2042996;2042998;2043000;2043002;2043004;2043006;2043008;2043010;2043012;2043014;2043016;2043018;2043020;2043022;2043024;2043026;2043028;2043030;2043032;2043034;2043036;2043038;2043040;2043042;2043044;2043046;2043048;2043050;2043052;2043054;2043056;2043058;2043060;2043062;2043064;2043066;2043068;2043070;2043072;2043074;2043076;2043078;2043080;2043082;2043084;2043086;2043110;2044094;2044100;2044102;2044116;2044128;2044132;2044140;2044146;2044148;2103898;2103900;2103902;2103906;2103908;2103910;5014051;5021872;5022651;5037552 D11S2921;D8S2278;D8S2279;ECD03319;ECD05776;ECD06235;ECD06304;ECD06655;ECD07381;ECD08338;ECD08649;ECD08981;ECD09589;ECD10389;ECD11070;ECD11533;ECD12614;ECD15737;ECD15738;ECD19868;ECD22499;ECD22978;ECD23476;REN92544;REN92545;REN92546;REN92547;REN92548;REN92549;REN92550;REN92551;REN92552;REN92553;REN92554;REN92555;REN92556;REN92557;REN92558;REN92559;REN92560;REN92561;REN92562;REN92563;REN92564;REN92565;REN92566;REN92567;REN92568;REN92569;REN92570;REN92571;REN92572;REN92573;REN92574;REN92575;REN92576;REN92577;REN92578;REN92579;REN92580;REN92581;REN92582;REN92583;REN92584;REN92585;REN92586;REN92587;REN92588;REN92589;REN92590;REN92591;REN92592;REN92604;REN93100;REN93103;REN93104;REN93111;REN93117;REN93119;REN93123;REN93126;REN93127;sY3084;stSG605999;stSG606000;stSG606001;stSG606006;stSG606007;stSG606008 CD305;LAIR-1;hLAIR1 OTTHUMP00000068183;OTTHUMP00000068184;OTTHUMP00000068185;OTTHUMP00000068186;OTTHUMP00000068187;leukocyte-associated Ig-like receptor 1 APPROVED protein-coding ENSG00000167613 HGNC:6477 04292 602992 REVIEWED 1344794 LAIR2 leukocyte-associated immunoglobulin-like receptor 2 The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to leukocyte-associated immunoglobulin-like receptor 1, a membrane-bound receptor that modulates innate immune response. The protein encoded by this locus is a soluble receptor that may play roles in both inhibition of collagen-induced platelet aggregation and vessel formation during placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013] 19 19 19 q13.4 52054534 52062418 + 55014013 55021900 + 54502797 54510690 + 6480464 10229813;10941842;12477932;15489334;17207965;17567994;18209062;19345263;20237496;20730098;22294640;23332415;23691008;8889549;9285412 3904 C9JFQ0;Q6ISS4 AA133246;ABBA01068154;AC008746;AC245036;AF013250;AI262718;BC057790;BC069366;BX106365;CH471135;CU024913;CU467002;DQ656002;EF174570;HI574262;HI574264;NM_002288;NM_021270;XM_005277264 AAB69325;AAH69366;ABO69591;ADQ32884;CBX47620;CBX47621;EAW72253;EAW72254;NP_002279;NP_067154;Q6ISS4;XP_005277321 Hs.43803 1809568;1810484;1810622;1811314;1812740;1814616;1815882;1817080;1819998;1829216;1829218;1830658;1838000;1841332;2043030;2043032;2043034;2043044;2043046;2043048;2043066;2043068;2043070;2043074;2043110;2044090;2044092;2044094;2044096;2044098;2044100;2044102;2044104;2044106;2044108;2044110;2044112;2044114;2044116;2044118;2044120;2044122;2044124;2044126;2044128;2044130;2044132;2044134;2044136;2044138;2044140;2044142;2044144;2044146;2044148;2103904;2104020;2104022;2104024;2104026;2104028 ECD05776;ECD06235;ECD06304;ECD06655;ECD07381;ECD08338;ECD08981;ECD09589;ECD11070;ECD15737;ECD15738;ECD16465;ECD20171;ECD21862;REN92564;REN92565;REN92566;REN92571;REN92572;REN92573;REN92582;REN92583;REN92584;REN92586;REN92604;REN93098;REN93099;REN93100;REN93101;REN93102;REN93103;REN93104;REN93105;REN93106;REN93107;REN93108;REN93109;REN93110;REN93111;REN93112;REN93113;REN93114;REN93115;REN93116;REN93117;REN93118;REN93119;REN93120;REN93121;REN93122;REN93123;REN93124;REN93125;REN93126;REN93127;stSG606004;stSG606119;stSG606120;stSG606121;stSG606122;stSG606123 CD306;LAIR-2;MGC71634 OTTHUMP00000068389;OTTHUMP00000068390;leukocyte-associated Ig-like receptor 2;leukocyte-associated Ig-like receptor-2 APPROVED protein-coding ENSG00000167618 HGNC:6478 04293 602993 REVIEWED 1353473 LAKLG lymphokine-activated killer cell ligand 3905 HGNC:6479 153435 737361 LALBA lactalbumin, alpha- This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq, Jul 2008] 12 12 12 q13 47757465 47759827 - 48961467 48963829 - 48567684 48571745 - 1580863;6480464;6907045;8554872 10037730;10080897;10366425;10818224;11518539;11718563;11947697;12477932;12594043;12833543;12860137;12888554;14627739;14627740;15075403;15134431;15141307;15558602;15956205;16121399;16851644;18939797;19038921;19766656;19968717;2002399;20618441;20717070;20800603;21152271;22735492;23005341;24105470;2954544;3015198;3479943;5049057;6285305;7644538;7708733;9136116;9346914;9365923;9537992;9925761 3906 F8VWU1;P00709 AB049976;ABBA01031482;AC089987;AMYH02026423;BC069103;BC112316;BC112318;BX281629;CH471111;CR541987;CR542017;J00270;NM_002289;X05153;XM_006719395 AAA60345;AAH69103;AAI12317;AAI12319;ADR82816;BAC06860;CAA28799;CAA28800;CAG46784;CAG46814;EAW57990;NP_002280;P00709;XP_006719458 Hs.72938 1744037;2155266;2183235;5492120 GDB:384890;LALBA;STS-J00270;WI-7600 MGC138521;MGC138523 OTTHUMP00000243652;OTTHUMP00000243653;alpha-lactalbumin;lactose synthase B protein;lysozyme-like protein 7 APPROVED protein-coding ENSG00000167531 HGNC:6480 01024 149750 REVIEWED 1316264 LAMA1 laminin, alpha 1 This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014] 18 18 18 p11.3 6802111 7003045 - 6941743 7117813 - 6941744 7117814 - 1580863;6480464;6484113;6907045;8554872;8699517 10470109;10620696;10837144;10934193;10964500;11311202;11798066;11827968;12111806;12149247;12180907;12393739;12477932;12524166;12615822;14557481;14702039;15885076;16196087;16677310;16709410;1714537;17166913;17307732;17618648;18162078;18436868;18519826;18661771;19416897;19587235;19672032;19913121;20019771;20237901;20301317;20379614;2049067;20628086;20876614;2099832;21541277;21570970;21963094;22159078;22693455;22760553;22840390;22919069;23602568;2373692;2591971;2733383;3488995;7698745;7925941;8360181;8463343;8601594;8995276;8999915;9006922;9136074;9169408;9334356;9597096;9647658;9688542 284217 P25391 ABBA01049901;ABBA01049902;ABBA01049903;ABBA01049904;ABBA01049905;AF351616;AK091949;AK093376;AMYH02034259;AMYH02034260;AMYH02034261;AMYH02034262;AP002409;AP005062;AP005210;BC016997;BC032758;BC039051;BC062318;BC107693;BC144590;CH471113;NG_034251;NM_005559;X58531 AAH39051;AAH62318;AAI72449;AAN76516;BAG52448;BAG52700;CAA41418;EAX01628;EAX01629;EAX01630;EAX01631;NP_005550;P25391 Hs.270364 1704138;1708708;1713729;1748693;1787906;5037552 D8S2279;RH120747;SHGC-110348;SHGC-173636;SHGC-79763;SHGC-81499 LAMA;PTBHS;S-LAM-alpha OTTHUMP00000164711;S-LAM alpha;S-laminin subunit alpha;laminin A chain;laminin subunit alpha-1;laminin-3 subunit alpha 2315440 INSUL43_H protein-coding ENSG00000101680 HGNC:6481 01033 150320;615960 REVIEWED 1318918 LAMA2 laminin, alpha 2 Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q22-q23 129950556 130583793 + 129204286 129837711 + 128883141 129516566 + 1600200;1600206;1600207;1580863;6480464;6907045;7240710;8554872;8699517 10335943;10773239;7550355 10225960;10616210;11054877;11071490;11311202;11584042;11591858;11938437;12100448;12467726;12552556;12601554;12609502;14557481;15146197;15210115;15452315;16084089;16212419;16216942;16226104;16335952;16344560;16504180;16709410;17426950;18053718;18700894;19294599;19553699;19692349;19893454;20207543;20301468;20379614;20397748;20477750;20607928;2099832;21822266;2185464;21906983;21953594;22006699;22038115;22420014;22654118;22675738;23396134;24144296;24347629;24529757;7535762;7925941;8294519;8798547;8889548;8910357;8939648;9131649;9158149;9271224;9597096 3908 P24043;Q59H37 AB208922;ABBA01025912;ABBA01025913;ABBA01025914;ABBA01025915;ABBA01025916;ABBA01025917;ABBA01025918;ABBA01025919;AK026829;AL041786;AL356124;AL445439;AL513527;AL583853;AL589927;AL590613;AL669984;AMYH02014463;AMYH02014464;AMYH02014465;AMYH02014466;AMYH02014467;AMYH02014468;AMYH02014469;AMYH02014470;BM984634;CA421469;CH471051;CN414799;DA864571;DB106101;KF458292;M59832;NG_008678;NM_000426;NM_001079823;U66796;XM_005266981;XM_005266982;Z26653 AAA63215;AAB18388;AAI72257;AAI72564;BAD92159;CAA81394;CAI16682;EAW48080;EAW48081;EAW48082;NP_000417;NP_001073291;P24043;XP_005267038;XP_005267039 Hs.200841 1649978;1653122;1653821;1696510;1703410;1707296;1713387;1713643;1717277;1749575;1750633;1750933;1756259;1761027;1762793;1764423;1766647;1779368;1786052;1853333;2144426;2163860;2183198;2187194;5115345 D6S1457;D6S2085;D6S2413;D6S2437;G30956;RH119549;RH120703;RH122053;RH46671;SGC44486;SHGC-104670;SHGC-111271;SHGC-111945;SHGC-143161;SHGC-144988;SHGC-146573;SHGC-148006;SHGC-149941;SHGC-153360;SHGC-155545;SHGC-68772;SHGC-79252;SHGC-83145;WI-12009;WI-17944 LAMM OTTHUMP00000017189;laminin M chain;laminin subunit alpha-2;laminin-12 subunit alpha;laminin-2 subunit alpha;laminin-4 subunit alpha;merosin heavy chain APPROVED protein-coding ENSG00000196569 HGNC:6482 01125 156225;607855 REVIEWED 1345784 LAMA3 laminin, alpha 3 Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. The protein encoded by this gene is the alpha-3 subunit of laminin 5, which is a complex glycoprotein composed of three subunits (alpha, beta, and gamma). Laminin 5 is thought to be involved in cell adhesion, signal transduction and differentiation of keratinocytes. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 18 18 18 q11.2 18085885 18351313 + 21269562 21535030 + 23689598 23955066 + 1600080;1580863;6480464;6484113;6907045;7240710;8554872;8699517 8586427 10637308;10801807;10806203;10811835;10956663;11278628;11311202;11373281;11707406;11775027;11810295;11891209;12136098;12196012;12382139;12477932;12482924;12532327;12802069;12826666;12875969;12915477;12943669;12947106;14612440;14695139;14702039;15044476;15149852;15316072;15373767;15694127;15695818;15854126;16169070;16179086;16219677;16297184;16344560;16537560;16757171;16870608;17000025;17071854;17137774;17466943;17482449;17825249;18603785;18664273;19343720;19724895;19752234;19773554;19834535;19851296;19936049;19940114;19945619;20036365;20198315;20301304;20301481;20372818;20936779;21034821;21276136;21940345;22351752;22434185;22563463;22673183;22898004;22959728;22963541;23443559;23869449;23907728;7633458;7775432;7921537;8077230;8618022;8939648;9010770;9151674;9395076;9597096;9759651;9950675 3909 K7EIP4;K7EMU9;K7EPP3;K7EQ42;K7ERM0;Q16787 AA001432;AB107369;AB208853;ABBA01022623;ABBA01022624;ABBA01022625;ABBA01022626;ABBA01022627;AC010754;AC067796;AC090366;AF005258;AJ330420;AK024889;AK096422;AMYH02034419;AMYH02034420;AMYH02034421;AMYH02034422;AMYH02034423;AMYH02034424;AMYH02034425;AY327114;AY327115;AY327116;BC033663;BC043618;BC093406;CA427431;CB990144;DA862923;EF444992;KF456351;L34155;L34156;NG_007853;NM_000227;NM_001127717;NM_001127718;NM_198129;X84392;X84900;X85107;X85108 AAA59483;AAA59484;AAC51867;AAH33663;AAH93406;AAI72402;AAI72580;AAQ72569;AAQ72570;AAQ72571;ACA06010;ACA06011;BAD13428;BAD92090;CAA59114;CAA59325;CAA59428;CAA59429;NP_000218;NP_001121189;NP_001121190;NP_937762;Q16787 Hs.436367 1652883;1658033;1666265;1691380;1705398;1761203;1783738;1783750;1791516;1792166;2122367;2153495;5021872;5022651;5037552 A009G17;D11S2921;D18S1260;D8S2279;G18025;G42069;PMC113197P1;PMC138037P1;SHGC-145215;SHGC-155337;SHGC-156081;SHGC-83562;STS-D29067;WI-9358;sY3084 BM600;E170;LOCS;lama3a BM600 150kD subunit;LAMNA;OTTHUMP00000162700;OTTHUMP00000162726;epiligrin 170 kda subunit;epiligrin alpha 3 subunit;epiligrin subunit alpha;kalinin 165kD subunit;kalinin subunit alpha;laminin subunit alpha-3;laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin);laminin-5 alpha 3 chain;laminin-5 subunit alpha;laminin-6 subunit alpha;laminin-7 subunit alpha;nicein 150kD subunit;nicein subunit alpha APPROVED protein-coding ENSG00000053747 HGNC:6483 02883 226650;226700;245660;600805;615235 REVIEWED 1320894 LAMA4 laminin, alpha 4 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011] 6 6 6 q21 113170441 113317106 - 112429134 112575924 - 112107931 112254722 - 1580863;6480464;6907045;8699517;7240710;8554872 10934193;11102753;11311202;12133914;12393739;12445830;12454288;12477932;14557481;14574404;14980521;15086543;15231748;15342556;15915502;16146715;16169070;16344560;16824487;17533363;17646580;18084776;18496706;18978678;19048114;19199708;19469865;20433883;20485444;20936779;21988832;7781776;7921537;7959779;8077230;8706685;8889548;9060828;9271224;9310354;9597096 3910 E5RFD7;E5RFQ2;E5RHF3;E5RK79;H0Y351;H0YAP9;H0YAQ5;Q16363;Q5D044;Q6LET9 AB210027;ABBA01026078;ABBA01026079;AJ710266;AK027151;AK304401;AL590106;AMYH02014311;BC004241;BC026237;BC066552;BM014298;BM662226;BP234809;BT006690;BX648467;CH471051;CR407622;DB271101;KF510935;NG_008209;NM_001105206;NM_001105207;NM_001105208;NM_001105209;NM_002290;S78569;U77706;X70904;X76939;X91171;XM_005266983;XM_005266984;XM_006715480;XM_006715481;Y14240;Z99289 AAB34635;AAB36540;AAH04241;AAH26237;AAH66552;AAP35336;ADZ15943;BAE06109;BAH14174;CAA50261;CAA54258;CAA62596;CAA74636;CAG28550;EAW48266;EAW48267;EAW48268;EAW48269;EAW48270;NP_001098676;NP_001098677;NP_001098678;NP_001098679;NP_002281;Q16363;XP_005267040;XP_005267041;XP_006715543;XP_006715544 Hs.654572 1335960;1663662;1684756;1690930;1707754;1710918;1848040;2122351;2131950;2138082;2139922;2139924;2146655;2147927;2178500;2180973;7185393;7185516 A005A32;A006N46;D6S1066;D6S1133E;D6S416;G20221;RH18133;RH45937;RH79598;RH92961;SGC38229;SHGC-82095;SHGC-84081;WI-11550;WI-12186;WI-18524 CMD1JJ;DKFZp686D23145;LAMA3;LAMA4*-1 OTTHUMP00000017039;OTTHUMP00000017043;OTTHUMP00000017044;OTTHUMP00000226932;OTTHUMP00000226933;OTTHUMP00000226935;OTTHUMP00000226993;laminin alpha 4 chain;laminin subunit alpha-4;laminin-14 subunit alpha;laminin-8 subunit alpha;laminin-9 subunit alpha APPROVED protein-coding ENSG00000112769 HGNC:6484 02532 600133;615235 REVIEWED 1354079 LAMA5 laminin, alpha 5 This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013] 20 20 20 q13.2-q13.3 57619270 57677579 - 60884116 60942368 - 62309060 62367312 - 1580863;6480464;6484113;6907045;8554872 10207021;10617638;10620696;10671376;10956663;10964500;10964957;11104726;11133776;11159210;11311202;11352943;11572484;11780052;11821406;11891225;11964076;11985661;12242717;12244066;12366691;12379663;12382139;12393739;12477932;12682087;12691260;12743034;12817023;14557481;14691145;15231748;15302884;15579904;15774758;15967115;15975931;16169070;16226104;16236823;16289162;16339173;16460839;16581764;16723698;16940506;17888902;18496706;18523231;18635166;18654987;18694491;19056867;19615022;19752234;19913121;20019771;20433883;20628086;20819124;20951195;20972440;21067603;21195710;21461966;21858073;21890473;21921666;21963094;22099024;22268729;22666383;23022198;23264881;23535732;23715200;24036115;24503541;7499364;9006922;9245798;9271224;9353324;9597096;9628581 3911 H7C5J6;O15230 AB010099;AB011105;AB067494;ABBA01040092;ABBA01040093;ABBA01040094;ABBA01040095;ABBA01040096;ABBA01040097;AF443072;AK074307;AL354836;AMYH02037419;AMYH02037420;AMYH02037421;AMYH02037422;AMYH02037423;AMYH02037424;AMYH02037425;AMYH02037426;AMYH02037427;BC003355;BC015386;BC085017;CH471077;NM_005560;XM_006723796;XM_006723797;XM_006723798;Z95636 AAH85017;AAM12527;BAA25459;BAA31347;BAB67800;CAB09137;EAW75372;EAW75373;EAW75374;NP_005551;O15230;XP_006723859;XP_006723860;XP_006723861 Hs.473256 2135518;5037552 D8S2279;RH17482 KIAA1907 OTTHUMP00000031475;laminin alpha-5 chain;laminin subunit alpha-5;laminin-10 subunit alpha;laminin-11 subunit alpha;laminin-15 subunit alpha APPROVED protein-coding ENSG00000130702 HGNC:6485 03020 601033 REVIEWED 8662009 LAMA5-AS1 LAMA5 antisense RNA 1 20 20 60928054 60931536 + 62353010 62356480 + 12107413;8889548 101928158 ABBA01040093;AL354836;AMYH02037426;BM670160;BM700151;BQ188912;CD675432;HG511511;HG511512;HG511513;HG511514;NR_109922;NR_109923;NR_109924 Hs.473256;Hs.570397 ncrna ENSG00000228812 HGNC:40334 VALIDATED 1314859 LAMB1 laminin, beta 1 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011] 7 7 7 q22 102371233 102450770 - 107564244 107643804 - 107923801 108003359 - 1624317;1580863;6480464;6907045;7240710;8699517;8554872 15523497 10225960;10407855;10671376;10801807;10842354;10964500;11054877;11067943;11096140;11311202;11683410;11891225;12477932;12615822;12743034;12853948;14557481;15123239;15474030;15604093;15706419;15894315;15967115;15987446;16146715;16236823;16289578;16335952;16344560;16713569;17170699;17517882;18029348;18162078;18450753;18474427;1864606;18691630;19058789;19122664;19147489;19416897;19526105;1975589;19834535;19915572;20201926;20228799;20360068;20936779;2099832;21078624;21139048;21276136;21370991;21744425;21906983;21963094;22268729;22863883;22939629;23382691;23472759;23679161;24163370;2563160;2704655;3493487;3611077;3661559;7921537;8702753;9184849;9196901;9309712;9435560;9647658 3912 C9J296;E7EPA6;E9PCS6;G3XAI2;P07942;Q8TAS6 ABBA01057899;AC005046;AC078853;AK303501;AK307611;AK309921;AMYH02016521;AMYH02016522;BC026018;BC044633;BC052598;BC113455;BX648251;CH236947;CH471070;DA861108;M20206;M55370;M61916;M61951;NG_023255;NM_002291 AAA59482;AAA59485;AAA59486;AAA59487;AAH26018;AAI13456;AAS07514;BAG64534;EAL24388;EAW83423;EAW83424;NP_002282;P07942 Hs.650585 1665873;1672210;1687477;1691224;1698232;1700888;1711446;1751605;1756881;1858237;2135868;2141620;2142783;2153058;2167305;2172025;2176372;2179804 D7S2809;D7S3074;D7S777;G36368;G36373;GDB:1317194;LAMB1;RH102652;RH104071;RH71457;RH80344;RH80938;SHGC-105537;SHGC-144048;STS-H01470;STS-N30158;STS-R09502;WI-19020 CLM;LIS5;MGC142015 OTTHUMP00000195574;OTTHUMP00000195576;cutis laxa with marfanoid phenotype;laminin B1 chain;laminin subunit beta-1;laminin-1 subunit beta;laminin-10 subunit beta;laminin-12 subunit beta;laminin-2 subunit beta;laminin-6 subunit beta;laminin-8 subunit beta APPROVED protein-coding ENSG00000091136 HGNC:6486 01029 150240;615191 REVIEWED 733412 LAMB2 laminin, beta 2 (laminin S) Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011] 3 3 3 p21 49115499 49127552 - 49158547 49170599 - 49121114 49133166 - 728961;1580863;6480464;6907045;7240710;7207425;7207449;7207433;8554872;8699517 15367484;19864299;21511833;2922051 10393422;10454804;10671376;10964500;11311202;11891225;11964076;14557481;14702039;15146197;15231748;15342556;15603881;16146715;16236823;16581764;16751776;16898484;16912710;16921188;17371932;17426950;17804866;17943323;18029348;18058136;18065803;18594871;18672223;19048114;19147489;19199708;19367581;20507940;20556798;20936779;2099832;21078624;21125408;21139048;21236492;21906983;21963094;21988832;22268729;22863883;23000965;23402259;7698745;7795887;7921537;7967523;8662701;9645947 3913 F5H520;P55268 ABBA01024612;AC135506;AK094050;AMYH02006742;BP354643;CH471055;CN265778;CN265784;CV814167;NG_008094;NM_002292;S77512;X72760;X79683;XM_005265127;Z68155;Z68156 AAB34682;AAI72384;BAC04272;CAA51288;CAA56130;CAA92279;EAW64958;EAW64959;NP_002283;P55268;XP_005265184 Hs.439726 2148532 D3S3922 LAMS;NPHS5 OTTHUMP00000210663;OTTHUMP00000210664;S-LAM beta;S-laminin subunit beta;laminin B1s chain;laminin S;laminin subunit beta-2;laminin, beta 2;laminin-11 subunit beta;laminin-14 subunit beta;laminin-15 subunit beta;laminin-3 subunit beta;laminin-4 subunit beta;laminin-7 subunit beta;laminin-9 subunit beta APPROVED protein-coding ENSG00000172037 HGNC:6487 01034 150325;609049;614199 REVIEWED 1346017 LAMB2P1 laminin, beta 2 pseudogene 1 INTERACTS WITH trichostatin A; valproic acid 3 3 3 p21.3-p21.2 49147443 49148985 - 49190292 49191834 - 49152859 49154401 - 6480464 10393422;8889548;9925618 22973 ABBA01024609;AC135506;AJ009558;AMYH02006742;BM683069;BM719107;NR_004405 Hs.607092 1768415 SHGC-76926 LAMB2L APPROVED pseudo HGNC:6488 PROVISIONAL 1344175 LAMB3 laminin, beta 3 The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q32 183019124 183056711 - 209788215 209825820 - 209614870 209652475 - 1600209;1580863;6480464;6907045;7240710;8554872;8699517 7698759 10577906;10637308;10806203;10811835;10964684;11296269;11311202;11689492;11867230;12477932;12482924;12802069;12875969;14612440;15146197;15149852;15331737;15342556;15363037;15370542;15373767;15489334;15538630;15854126;16147969;16179086;16537560;16710414;16757171;16870608;17137774;17170699;17476356;17482449;18284540;18331784;18387282;18603785;19275936;19383890;19700013;19701966;19940114;20163849;20301304;20301481;21034821;21139048;21345334;21906983;21963094;21987572;22563463;22673183;22898004;23441154;23769655;23958762;7512558;7550237;7550320;7706760;7774918;7775432;8088808;8530036;8824879;9205497;9242513;9457915;9501007;9579554;9767254;9840442;9856855;9989793 3914 Q13751;Q5THA1;X1WI29 ABBA01048215;AK296851;AK309524;AL023754;AL031316;AL555685;AMYH02002598;AY035783;BC058922;BC075838;BP350980;BX345166;CH471100;CN414822;D37766;L25541;NG_007116;NM_000228;NM_001017402;NM_001127641;U17744;U17745;U17746;U17747;U17748;U17749;U17750;U17751;U17752;U17753;U17754;U17755;U17756;U17757;U17758;U17759;U17760;XM_005273124 AAA61834;AAC51352;AAH75838;AAK61364;ACE86477;ACE87158;BAA22263;BAG59417;EAW93448;EAW93449;NP_000219;NP_001017402;NP_001121113;Q13751;XP_005273181 Hs.497636 1734196;1744871;1793930;1793932;1793934;2178845;2218560;5014724;5095754;5115144 D1S1735E;G60380;GDB:574129;LAMB3__4002;PMC310500P1;PMC310500P2;PMC310500P3;RH48497;RH68249;WI-7944 BM600-125KDA;FLJ99565;LAM5;LAMNB1 OTTHUMP00000034555;OTTHUMP00000034640;epiligrin subunit bata;kalinin B1 chain;kalinin subunit beta;kalinin-140kDa;laminin B1k chain;laminin S B3 chain;laminin subunit beta-3;laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD));laminin-5 subunit beta;nicein subunit beta;nicein-125kDa APPROVED protein-coding ENSG00000196878 HGNC:6490 01032 150310;226650;226700 REVIEWED 1342609 LAMB4 laminin, beta 4 INVOLVED IN cell adhesion (inferred); PARTICIPATES IN cell-extracellular matrix signaling pathway; Entamoeba histolyca infection pathway; small cell lung cancer pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN basement membrane (inferred); INTERACTS WITH benzo[a]pyrene; mercury atom; mercury(0) 7 7 7 q31 102470963 102577805 - 107663996 107770801 - 108023551 108130356 - 6480464;6907045;8554872 11311202;11329013;11483367;12477932;16228230;16344560;19401682;19615732;21876539;9847074 22798 A4D0S4;C9JMJ0 ABBA01057896;ABBA01057897;ABBA01057898;ABBA01057899;AC005048;AF028816;AF029325;AF172277;AK300385;AK301777;AMYH02016523;AMYH02016524;AMYH02016525;BC045172;BC140804;BC142619;BC144591;BG216241;CH236947;CH471070;DA859196;NM_007356;XM_005250232 A4D0S4;AAC95123;AAC95124;AAF22284;AAH45172;AAI40805;AAI42620;AAI44592;BAG62119;BAG63235;EAL24387;EAW83425;EAW83426;NP_031382;XP_005250289 Hs.62022 1337977;1696406;1724491;1775046;1777347;2108199;2121396;5022578;5109281;7187537 D1S1423;D1S1425;D7S2456;G36372;GDB:1317874;LAMB4_8000;RH122504;SHGC-57526;SHGC-83325 OTTHUMP00000206849;laminin beta-1-related protein;laminin subunit beta-4 protein-coding ENSG00000091128 HGNC:6491 11224 VALIDATED 1318553 LAMC1 laminin, gamma 1 (formerly LAMB2) Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011] 1 1 1 q31 156103698 156225839 + 182992572 183114727 + 183023460 183145592 + 1580863;6480464;6907045 10671376;10964500;11054877;11067943;11133776;11311202;11683410;11891225;12111806;12477932;12526023;12615822;12743034;12754519;14557481;15146197;15159456;15231748;15370542;15561105;15604093;15967115;16146715;16169070;16236823;16335952;16344560;17021862;17170699;17517882;17554784;18029348;1806043;18073332;18697739;19056867;19322201;19416897;19834535;1985895;20223449;20628624;20688161;21139048;21192846;21276136;21832049;21900206;21906983;21963094;21988832;22268729;22321639;22342894;22377151;22892598;22911854;22968451;23039241;23053286;23266556;23443559;23602568;23674478;24163370;24180678;24300951;24639526;2922051;3234037;3360804;3402995;3552045;7698745;7921537;8889548;9647658;9733643;9755123;9885251 3915 P11047;Q6NVY8;R4GNC7 ABBA01027752;ABBA01027753;ABBA01027754;AL354953;AL450304;AMYH02002279;AMYH02002280;BC015586;BC035429;BC067813;BF507385;BI768612;CF125114;CH471067;CN388644;DA401791;J03202;M27654;M55210;NG_011463;NM_002293;X13939 AAA59488;AAA59489;AAA59492;AAH15586;AAH67813;CAA32122;EAW91144;EAW91145;NP_002284;P11047 Hs.609663 1661010;1712701;1742595;1764645;1765953;1770774;1849930;2140645;2166801;2175618 D1S3330;D1S3536;GDB:197916;RH121047;SHGC-148234;SHGC-149351;SHGC-75980;SHGC-76013;SHGC-76019;WI-19021 LAMB2;MGC87297 OTTHUMP00000033450;S-LAM gamma;S-laminin subunit gamma;laminin B2 chain;laminin subunit gamma-1;laminin-1 subunit gamma;laminin-10 subunit gamma;laminin-11 subunit gamma;laminin-2 subunit gamma;laminin-3 subunit gamma;laminin-4 subunit gamma;laminin-6 subunit gamma;laminin-7 subunit gamma;laminin-8 subunit gamma;laminin-9 subunit gamma APPROVED protein-coding ENSG00000135862 HGNC:6492 01030 150290 REVIEWED 1315384 LAMC2 laminin, gamma 2 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011] 1 1 1 q25-q31 156266276 156325361 + 183147952 183214262 + 183178827 183258333 + 1600210;6480464;6907045;7240710;8554872;8699517 8012393 10637308;10713141;10749670;10801807;10806203;10811835;10951251;10964684;11279058;11311202;11564184;11733994;11810295;11920553;11992550;12138239;12197671;12477932;12482924;12517801;12519076;12643602;12802069;12875969;1383240;14612440;14632187;15105812;15149852;15363037;15370542;15373767;15609083;15743799;15854126;15963983;16103736;16179086;16285938;16395714;16537560;16624538;16710414;16757171;16870608;17137774;17170699;17314405;17353186;17390227;17426950;17482449;17786338;18332212;18559558;18603785;18669583;18697739;18713836;19047908;19147813;19265264;19351903;19383890;19469865;19582886;19667121;19701966;19934926;19940114;20143393;20301304;20301481;20307265;20631633;20729552;21034821;21042753;21345334;21347282;21408207;21664646;21771037;21906983;21955313;22101459;22209340;22563463;22673183;22898004;22917688;23124251;23588386;23590307;23740937;23798558;24070183;24124977;24170107;24238220;7849725;7921537;7987320;8012394;8265624;8306988;8786121;9010770;9721586;9989793 3918 Q13753 ABBA01027752;AK296944;AK307945;AL354953;AL356981;AMYH02002280;BC112286;BC113378;BC143653;CH471067;NG_007079;NM_005562;NM_018891;U31178;U31179;U31180;U31181;U31182;U31183;U31184;U31185;U31186;U31187;U31188;U31189;U31190;U31191;U31192;U31193;U31194;U31195;U31196;U31197;U31198;U31199;U31200;U31201;X73902;XM_005245150;XM_006711316;Z15008;Z15009 AAC50456;AAC50457;AAI12287;AAI13379;BAG59493;CAA52108;CAA78728;CAA78729;EAW91146;EAW91147;NP_005553;NP_061486;Q13753;XP_005245207;XP_006711379 Hs.591484 1648626;1663189;2160069;2161132;2162806;2190611;2217550;5120482;5120484;5120486 D1S2385;GDB:335853;GDB:335857;GDB:335860;LAMC2;LAMC2_4004;RH18131;RH68245;SHGC-35434;SHGC-76024 B2T;BM600;CSF;EBR2;EBR2A;LAMB2T;LAMNB2;MGC138491;MGC141938 BM600-100kDa;CSF 140 kDa subunit;OTTHUMP00000033550;OTTHUMP00000230852;cell-scattering factor 140 kDa subunit;epiligrin subunit gamma;kalinin (105kD);kalinin subunit gamma;kalinin-105kDa;ladsin (140kDa);ladsin 140 kDa subunit;laminin B2t chain;laminin subunit gamma-2;laminin-5 subunit gamma;large adhesive scatter factor 140 kDa subunit;nicein (100kDa);nicein subunit gamma;nicein-100kDa 2292936;2293000 PRSTS117_H;PRSTS118_H APPROVED protein-coding ENSG00000058085 HGNC:6493 01031 150292;226650;226700 REVIEWED 1319725 LAMC3 laminin, gamma 3 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011] 9 9 9 q31-q34 104423595 104507538 + 133884504 133968446 + 131009117 131093059 + 1580863;6480464;6907045;8699517;7240710;8554872 10225960;11162474;11311202;11964076;16303743;16581764;18697739;19913121;20237496;20628086;21572413;21963094;21988832;22961762;7921537;9645947 10319 H7BY04;Q5JTC4;Q8N2D6;Q9Y6N6 AB208887;ABBA01012071;ABBA01012072;ABBA01012073;ABBA01012074;ABBA01012075;ABBA01012076;AF041835;AK075536;AL133595;AL157938;AL355872;AL551493;AL583807;AMYH02021776;AMYH02021777;AMYH02021778;BX327938;CH471090;NG_029800;NM_006059;R45355;XM_006716921 AAD36991;AAI56275;BAC11679;BAD92124;CAB63732;EAW87954;EAW87955;EAW87956;EAW87957;NP_006050;Q9Y6N6;XP_006716984 Hs.201805 1657165;1738275;1740531;1767435;2219888;5037552;7185921 D8S2279;D9S110;D9S148;D9S313;D9S903;LAMC3__6368;WI-14302 DKFZp434E202;OCCM OTTHUMP00000022392;OTTHUMP00000022393;laminin subunit gamma-3;laminin-12 subunit gamma;laminin-14 subunit gamma;laminin-15 subunit gamma APPROVED protein-coding ENSG00000050555 HGNC:6494 05069 604349;614115 REVIEWED 737544 LAMP1 lysosomal-associated membrane protein 1 The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008] 13 13 13 q34 94778100 94804252 + 113951436 113977746 + 113297154 113323426 + 1580863;4892310;4892631;6480464;6907045 18690537;20548331 10222041;11584299;12144129;12230470;12477932;12754519;12885763;14702039;15052268;15052658;15292400;15613468;15744340;15792797;15916720;16004603;16335952;16542649;16570122;16710742;16718270;16778144;16887987;17048695;17381240;17506821;18329387;18388320;18417583;18835598;18958159;19056867;19079288;19286658;19322201;19343823;19524015;1959930;19802344;19946888;20012524;20459747;20622010;20926008;20967466;21139048;21152024;21674799;21789505;21906983;21909394;21963094;22268729;2243102;22640649;22641697;22733818;22768177;22863883;22939629;23098255;23172893;23246001;2332441;23603048;23632890;23696512;23729440;23826410;23847195;24086611;24134738;24147000;24334114;24619419;24970085;24998849;2584229;2912382;3131762;3174652;3198605;7569928;8323299;8517882;8647888;9482728;9685355 3916 P11279 AB209319;ABBA01019864;ABBA01019865;AK092398;AK301584;AL136221;AMYH02028740;AMYH02028741;BC006345;BC007845;BC021288;BC025335;BC093044;BU849686;CH471085;DB462451;J03263;J04182;NM_005561 AAA59524;AAA60382;AAH06345;AAH07845;AAH21288;AAH93044;ABM83540;ABM86780;BAD92556;BAG52545;BAG63075;EAX09202;EAX09203;NP_005552;P11279 Hs.494419 1856400;2124613;5022651 D11S2921;RH44107;WI-9160 CD107a;LAMP-1;LGP120 CD107 antigen-like family member A;LAMPA;OTTHUMP00000018748;lysosomal membrane glycoprotein 1;lysosome-associated membrane glycoprotein 1;lysosome-associated membrane protein 1 APPROVED protein-coding ENSG00000185896 HGNC:6499 01076 153330 REVIEWED 1344665 LAMP1P1 lysosomal-associated membrane protein 1 pseudogene 1 12 12 12 p13.3 3581469 3582575 - 1973747 1974853 - 1864581 1865687 - 100421198 ABBA01048814;AC005343;AMYH02025879;NG_023963 2181730 G09509 LAMP1L1 APPROVED pseudo HGNC:6500 INFERRED 735952 LAMP2 lysosomal-associated membrane protein 2 The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008] X X X q24 120024817 120068016 - 119560003 119603204 - 120426148 120469349 - 1580822;1580823;1580826;1580863;4892310;6480464;6907045;7240710;8554872;8699517 10972294;15673802;16144992;20548331 10222041;11139587;12144129;12477932;12505983;12536145;12754519;1435334;14561493;15229288;15297306;15333840;15340161;15489334;15772651;15894275;15907287;15908444;16190986;16335952;16344560;16570122;17048695;17296900;17506821;17873513;17897319;17899313;18004770;18061453;18403758;18550537;18635949;18958159;19056867;19057086;19292867;19322201;19343823;19362087;19458911;19474101;19524015;19533775;19535332;19588270;1959930;19815536;19912576;19913121;20086096;20173215;2032724;20513107;20518820;20540933;20628086;20920663;20926008;21139048;21161685;21462217;21514572;21674799;21988832;22365987;2243102;22541782;22593165;22641697;22732524;22863883;22867958;22874552;22939629;23071649;2332441;23349634;23443559;23492776;23503679;23603048;23704322;23880665;24068328;24203998;24334114;24691104;24721399;24980434;2912382;3198605;7487911;7488019;7999007;8323299;8517882;8660832;8743190;8995204;9010755;9668075;9746610 3920 B4E2S7;B7Z2R9;H0YCG2;P13473 ABBA01049588;ABBA01049589;ABBA01049590;AC002476;AC006962;AK291090;AK293931;AK295038;AK304405;AMYH02040362;AY561849;BC002965;BC040653;BP386088;CH471107;DA405328;J04183;L09717;NG_007995;NM_001122606;NM_002294;NM_013995;S79873;U36336;X77196 AAA60383;AAA91149;AAB35426;AAB41647;AAB67313;AAB67314;AAH02965;AAS67876;ABM83021;ABM86214;BAF83779;BAG57310;BAG65239;BAH11955;CAA54416;EAX11881;EAX11882;EAX11883;EAX11884;NP_001116078;NP_002285;NP_054701;P13473 Hs.496684 1654856;1663478;1667665;1668222;1725113;1846871;1846873;1849343;1849345;2117813;2122908;2128872;2130970;2146079;2150366;2157910;2171633;2171836;2175954;2217552;2220274;5092780;5117522 A001X10;A005Z05;A006D20;AL008932;DXS7032E;DXS7521;DXS7878;DXS8328;G19741;G20613;G32325;GDB:574059;KAL1;LAMP2_3399;RH124059;RH36081;RH78986;RH79207;STS-AA009802;STS-G07303;STS-N63463;WI-11028;WI-13810 CD107b;LAMP-2;LAMPB;LGP110 CD107 antigen-like family member B;OTTHUMP00000023943;OTTHUMP00000023944;OTTHUMP00000226572;lysosomal membrane glycoprotein 2;lysosome-associated membrane glycoprotein 2;lysosome-associated membrane protein 2 APPROVED protein-coding ENSG00000005893 HGNC:6501 02396 300257;309060 REVIEWED 1317407 LAMP3 lysosomal-associated membrane protein 3 Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010] 3 3 3 q26.3-q27 181274880 181315525 - 182840003 182880667 - 183122215 183162879 - 6480464;8554872 12477932;15111122;15489334;16204031;16344560;16887987;17056097;17554300;17606713;18292234;19308021;19335688;19913121;20414141;20628086;20863830;21254220;21292315;21319150;21596034;21738487;21810281;21988832;22809326;23569139;23651994;23876802;23898208;24045183;24434718;9721848;9768752 27074 C9JDI8;C9JYP5;E7ETP9;Q9UQV4 AB013924;ABBA01058485;AC104641;AJ005766;AK302894;AK313172;AMYH02008277;AMYH02008278;BC032940;BI462212;CH471052;DA994656;DC399447;HI573952;NM_014398;XM_005247360;XM_006713586 AAH32940;ABM83044;BAA34533;BAG35989;BAG64067;CAA06691;CBX47465;EAW78337;EAW78338;NP_055213;Q9UQV4;XP_005247417;XP_006713649 Hs.518448 1740257;2108803;2112588;2112702;2145130;2145132 A005L36;D3S1690;D3S4355;D3S4413;G20317;LAMP3_3573.2 CD208;DC LAMP;DC-LAMP;DCLAMP;LAMP;LAMP-3;TSC403 DC-lysosome-associated membrane glycoprotein;OTTHUMP00000212868;OTTHUMP00000212869;lysosome-associated membrane glycoprotein 3 APPROVED protein-coding ENSG00000078081 HGNC:14582 12062 605883 VALIDATED 1315920 LAMP5 lysosomal-associated membrane protein family, member 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum-Golgi intermediate compartment membrane; endosome membrane; plasma membrane; INTERACTS WITH all-trans-retinoic acid; arsenite(3-); atrazine 20 20 20 p12 9565283 9581196 + 9495005 9511171 + 9514358 9530524 + 6480464;8554872 11780052;12477932;15489334;21642595 24141 Q9UJQ1 ABBA01053928;AK295336;AK316114;AL031652;AL121740;AMYH02036689;AMYH02036690;BC050727;BG707942;BI602543;CH471133;CS185536;GM048030;GM048061;GM675596;NM_001199897;NM_012261 AAH50727;BAG58309;BAH14485;CAB57330;CAJ42717;CAT03711;CAT03723;CAV33173;EAX10361;EAX10362;NP_001186826;NP_036393;Q9UJQ1 Hs.22920 1674765;2174472;2174474 A001Z47;G19835;Z94425 C20orf103;LAMP-5;UNC-43 BAD-LAMP;BADLAMP;LAMP family protein C20orf103;OTTHUMP00000030243;brain and dendritic cell associated LAMP;brain and dendritic cell-associated LAMP;brain-associated LAMP-like protein;lysosome-associated membrane glycoprotein 5;lysosome-associated membrane protein 5 APPROVED protein-coding ENSG00000125869 HGNC:16097 12736 614641 VALIDATED 8177071 LAMP5-AS1 LAMP5 antisense RNA 1 20 20 9485827 9495645 - 9505180 9514998 - 14702039;24488769 101929329 ABBA01053928;AK096264;AL031652;AMYH02036689;HG511170;NR_109957 Hs.589878 RP5-1119D9.4 ncrna ENSG00000225988 HGNC:40754 VALIDATED 1605997 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity; protein complex scaffold; INVOLVED IN cell growth; cellular protein localization; cellular response to amino acid stimulus; FOUND IN extracellular vesicular exosome; Golgi apparatus; intracellular membrane-bounded organelle; INTERACTS WITH valproic acid; phenobarbital (ortholog) 11 11 11 q13.4 69110285 69116380 - 71805371 71814433 - 72097292 72103387 - 6480464 12358155;12477932;14702039;15489334;15498874;15592455;16169070;17342744;18029348;19056867;19177150;19322201;19654316;20381137;20544018;20972266;21087931;21139048;21674799;21816923;21890473;21906983;21963094;21987572;22053931;22424946;22505724;22513874;22939629;23000965;23824909;24583282;25015289 55004 F5GX19;F5H267;F5H3Y3;F5H479;H0YFI1;Q6IAA8 ABBA01017542;AF289583;AK000632;AK300681;AMYH02025075;AP000812;BC001706;BX381569;CH471076;CR457247;NG_021423;NM_017907 AAH01706;AAL55767;BAA91297;BAG62364;CAG33528;EAW74836;EAW74837;NP_060377;Q6IAA8 Hs.731528 1857281;2148684;2148686;2191507 A005V05;D11S2238E;G20526;MARC_24275-24276:1044473527:2 C11orf59;FLJ20625;PDRO;Prdo;Ragulator1;p18;p27RF-Rho OTTHUMP00000237128;OTTHUMP00000237131;OTTHUMP00000237132;late endosomal/lysosomal adaptor and MAPK and MTOR activator 1;lipid raft adaptor protein p18;p27Kip1-releasing factor from RhoA;p27kip1 releasing factor from RhoA;protein associated with DRMs and endosomes;ragulator complex protein LAMTOR1;ragulator complex protein PDRO;rhoA activator C11orf59 APPROVED protein-coding ENSG00000149357 HGNC:26068 07933 613510 VALIDATED 1606308 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 1 1 1 q22 129097578 129101362 + 156024517 156028301 + 156054726 156058510 + 6480464;7240710;8699517;8554872 11042152;11266467;12477932;15489334;16710414;17897319;18976975;20381137;21139048;21829671;21988832;22939629;22968171;23341997 28956 Q9Y2Q5 ABBA01016673;AF070659;AK307086;AL355388;AMYH02001960;BC024190;BM353842;BU184679;CA438137;CH471121;DB566869;NG_009898;NM_001145264;NM_014017 AAD20965;AAH24190;ABM83891;ABM87211;EAW53004;NP_001138736;NP_054736;Q9Y2Q5 Hs.632483 5016248 RH45081 HSPC003;MAPKSP1AP;ROBLD3;RP11-336K24.9;Ragulator2;p14 ENDAP;MAPBP-interacting protein;MAPBPIP;MAPKSP1 adaptor protein;OTTHUMP00000018850;OTTHUMP00000018851;OTTHUMP00000018852;endosomal adaptor protein p14;late endosomal/lysosomal Mp1-interacting protein;late endosomal/lysosomal adaptor and MAPK and MTOR activator 2;mitogen-activated protein-binding protein-interacting protein;mitogen-activated protein-binding protein-interacting protein (MAPBPIP);ragulator complex protein LAMTOR2;roadblock domain containing 3;roadblock domain-containing protein 3 APPROVED protein-coding ENSG00000116586 HGNC:29796 17463 610389;610798 REVIEWED 1316146 LAMTOR3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011] 4 4 4 q23 98096915 98113123 - 100799495 100815703 - 99878338 99894546 - 6480464;6907045 11266467;11483580;12477932;12479806;14611647;14702039;15016825;15118098;15263099;15489334;15547943;15923628;16344560;17113937;17178906;17254543;17908799;19056867;19322201;20381137;20655927;21139048;21490707;21829671;21890473;21900206;21988832;22939629;23341997;23408059;8125298;9733512 8649 Q9UHA4 ABBA01063674;AF130115;AF201947;AF305816;AK022313;AK223311;AK311755;AL544981;AMYH02009802;AP001962;BC005340;BC026245;BC110402;BI562630;CH471057;DA300823;FB746701;NM_001243736;NM_021970;NR_024170 AAF17239;AAG35540;AAH26245;AAK55519;ABM84034;ABM87380;BAD97031;BAG34698;CAT04668;EAX06112;EAX06113;NP_001230665;NP_068805;Q9UHA4 Hs.433332 1680355;1685185;1696298;1699342;1768455;1770585;2107311 MAP2K1IP1__7369;RH103258;RH94142;SHGC-36699;SHGC-54246;SHGC-67358;SHGC-77725 MAP2K1IP1;MAPBP;MAPKSP1;MP1;PRO0633;Ragulator3 MAPK scaffold protein 1;MEK binding partner 1;MEK partner 1;MEK-binding partner 1;OTTHUMP00000161681;OTTHUMP00000219461;late endosomal/lysosomal adaptor and MAPK and MTOR activator 3;mitogen-activated protein kinase kinase 1 interacting protein 1;mitogen-activated protein kinase kinase 1-interacting protein 1;mitogen-activated protein kinase scaffold protein 1;ragulator complex protein LAMTOR3 APPROVED protein-coding ENSG00000109270 HGNC:15606 04485 603296 REVIEWED 5129390 LAMTOR3P1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 1 13 13 13 q13.3 18563865 18565112 + 37496580 37497827 + 36922443 36923690 + 100130119 ABBA01021350;AL138706;AMYH02027873;NG_008635;NG_016963 pseudo HGNC:39726 INFERRED 6480954 LAMTOR3P2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 2 5 5 118468380 118468597 - 119132685 119132902 - 100874516 ABBA01068978;AC118465;AMYH02012054;NG_032353 pseudo HGNC:39727 INFERRED 1604690 LAMTOR4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity; protein complex scaffold; INVOLVED IN cellular response to amino acid stimulus; positive regulation of GTPase activity; positive regulation of TOR signaling; ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular membrane-bounded organelle; lysosome; Ragulator complex; INTERACTS WITH dibutyl phthalate (ortholog); toluene (ortholog) 7 7 7 q22.1 94481881 94487184 + 99746530 99751833 + 100148907 100154210 + 6480464;8554872 12477932;22980980;23500468;24250222 389541 C9JXA7;Q0VGL1 ABBA01013232;AC073842;AMYH02016374;AX588498;BC063401;BC105609;BC130553;BC130559;BE733059;BG715626;CH236956;CH471091;NM_001008395 AAH63401;AAI05610;AAI30554;AAI30560;ADR82787;CAD61554;EAW76584;EAW76585;NP_001008396;Q0VGL1 Hs.406520 1774863;2120403;2134644 D7S1909;D7S2925;WI-20780 C7orf59;MGC163425;MGC163431 OTTHUMP00000206821;OTTHUMP00000210553;UPF0539 protein C7orf59;hypothetical protein LOC389541;late endosomal/lysosomal adaptor and MAPK and MTOR activator 4;ragulator complex protein LAMTOR4 APPROVED protein-coding ENSG00000188186 HGNC:33772 17380 VALIDATED 1312775 LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 109191059 109197730 - 110943875 110950546 - 110401253 110407924 - 1580863;6480464 11788598;11925594;12477932;12773388;14578865;14702039;15489334;15955450;16055925;16169070;16176273;17050029;17303008;17428866;18029348;18032378;18158869;18976975;19885569;20811532;20877624;21139048;21343296;21651858;21706058;21988832;22209835;22293503;22740693;22939629;22980980;23266610;23291272;23352642;23494474;23537647;23667255;24464787;24882622;9499022 10542 E9PLX3;O43504;R4GMU8 AA443738;ABBA01068392;AF029890;AK054769;AK056679;AL390797;AMYH02001723;AY623819;BC062619;BX092018;CH471122;CR456866;CR542130;NM_006402 AAC52032;AAH62619;AAV30683;ADR82678;BAG51783;CAG33147;CAG46927;EAW56447;NP_006393;O43504 Hs.439815 1679157;2172821;2172823;5015619;5022578;5037552;5109281 A006J43;D11S3114;D1S1423;D1S1425;D8S2279;G20883;WIAF-2073 HBXIP;MGC71071;XIP HBV X-interacting protein;HBx-interacting protein;OTTHUMP00000013288;OTTHUMP00000234793;OTTHUMP00000234794;hepatitis B virus X-interacting protein;hepatitis B virus x interacting protein;hepatitis B virus x-interacting protein (9.6kD);late endosomal/lysosomal adaptor and MAPK and MTOR activator 5;ragulator complex protein LAMTOR5 APPROVED protein-coding ENSG00000134248 HGNC:17955 09773 608521 REVIEWED 7243078 LAMTOR5-AS1 LAMTOR5 antisense RNA 1 1 1 p13.3 110950431 110961046 + 110407809 110416274 + 101410535 ABBA01068392;AL390797;AMYH02001723;AMYH02001724;BE547292;BG718030;HG492387;HG492388;HG492389;HG492390;HG492391;HG492392;HG492393;HG492395;HG492396;HY022359;NR_102697 Hs.559121 RP11-225L12.2 ncrna HGNC:40823 VALIDATED 69464 LANCL1 LanC lantibiotic synthetase component C-like 1 (bacterial) This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008] 2 2 2 q33-q35 205064000 205109528 - 211295973 211342347 - 210431249 210477623 - 1580863;6480464 10944443;11474189;12477932;15082773;15489334;18029348;18781797;19343720;19528316;21139048;21145461;21906983;21963094;21987572;22118674;22234250;22891245;22939629;23000965;24591637;9512664 10314 B2R602;E9PHS0;F8WDS9;H7C2E3;O43813;Q53TN2 ABBA01062737;AC007970;AJ289236;AK294674;AK309295;AK312381;AMYH02005682;BC007041;BC028685;BX473106;CH471063;CR541777;DC321883;DC324843;NM_001136574;NM_001136575;NM_006055;XM_005246243;Y11395 AAH28685;AAY14696;ABM84706;BAG35299;BAG57838;CAA72205;CAC21950;CAG46576;EAW70487;EAW70488;EAW70489;EAW70490;EAW70491;NP_001130046;NP_001130047;NP_006046;O43813;XP_005246300 Hs.13351 1652580;1669367;1686556;1734816;1734842;1772993;2120631;2124867;2177048 A004N22;Cda0gh01;D2S1578E;D2S1594E;D2S1997;RH69510;RH98466;SHGC-36761;WI-13674 GPR69A;p40 40 kDa erythrocyte membrane protein;G protein-coupled receptor 69A;LanC (bacterial lantibiotic synthetase component C)-like 1;LanC (bacterial lantibiotic synthetase component);OTTHUMP00000163940;OTTHUMP00000206535;OTTHUMP00000206536;OTTHUMP00000206537;OTTHUMP00000206538;lanC-like protein 1 APPROVED protein-coding ENSG00000115365 HGNC:6508 16040 604155 REVIEWED 8662054 LANCL1-AS1 LANCL1 antisense RNA 1 2 q34 210442673 210468584 + 16344560 102724820 ABBA01062737;AC007970;AL599033;AMYH02005682;BM678410;BX119066;DA820426;HG495176;NR_110604;NR_110605;NR_110606;XR_425521;XR_427222;XR_431531 Hs.659232 LANCLOT ncrna HGNC:50727 VALIDATED 1321926 LANCL2 LanC lantibiotic synthetase component C-like 2 (bacterial) ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding; phosphatidylinositol-4-phosphate binding; phosphatidylinositol-5-phosphate binding; INVOLVED IN negative regulation of transcription, DNA-templated; positive regulation of abscisic acid-activated signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cortical actin cytoskeleton; cytoplasm; cytosol; INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; cisplatin 7 7 7 q31.1-q31.33 55536348 55604629 + 55433141 55501435 + 55365448 55433742 + 1580863;6480464;8554872 11762191;12477932;12566319;12690205;12853948;14702039;15489334;16979580;18029348;19165527;19615732;19667068;20512604;21044950;21139048;21832049;21963094;22037458;22354994;22939629;23000965;23956138;24816145;8125298 55915 B3KTN5;H7BZ40;Q9NS86 AA994905;AB035966;ABBA01011851;ABBA01011852;ABBA01011853;AC073347;AF353942;AJ278245;AK095857;AK225958;AK301747;AK313326;AL713665;AMYH02015733;AMYH02015734;BC004887;BC070049;BF590020;BI869599;CH236957;CH471201;NM_018697 AAH04887;AAH70049;AAK83286;AAQ93360;BAA96800;BAG36131;BAG53147;BAG63209;CAC21715;CAD28471;EAL23810;EAW50968;NP_061167;Q9NS86 Hs.595384;Hs.706612 1657334;1670880;1676654;1735702;1771741;2122768;2136490;2141724;2155852;2159875 D7S2128E;D7S2156E;GDB:1317264;GDB:4585065;GDB:4585709;RH79715;SHGC-32070;WI-16990;WI-18503;WIAF-2178 GPR69B;MGC87139;TASP G protein-coupled receptor 69B;LanC (bacterial lantibiotic synthetase component C)-like 2;OTTHUMP00000159664;lanC-like protein 2;testis-specific adriamycin sensitivity protein protein-coding ENSG00000132434 HGNC:6509 13956 612919 VALIDATED 1349608 LANCL3 LanC lantibiotic synthetase component C-like 3 (bacterial) ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH (+)-catechin; benzo[a]pyrene; diazinon X X X p21.1 41568483 41674412 + 37430822 37536750 + 37571569 37677497 + 6480464 10409428;12477932 347404 Q6ZV70 ABBA01047101;ABBA01047102;ABBA01047103;ABBA01047104;ABBA01047105;ABBA01047106;ABBA01047107;ABBA01047108;ABBA01047109;ABBA01047110;ABBA01047111;ABBA01047112;ABBA01047113;ABBA01047114;AC233283;AC233297;AI989993;AK124915;AL121577;AL627244;AMYH02039169;AMYH02039170;BC093667;BC093669;BC143528;BG944288;CH471141;NG_016368;NM_001170331;NM_198511 AAH93667;AAH93669;BAC85993;EAW59455;NP_001163802;NP_940913;Q6ZV70 Hs.521932 FLJ42925 OTTHUMP00000031917;OTTHUMP00000031918;lanC-like protein 3 protein-coding ENSG00000147036 HGNC:24767 13957 VALIDATED 1317491 LAP3 leucine aminopeptidase 3 ENCODES a protein that exhibits aminopeptidase activity (inferred); manganese ion binding (inferred); metalloexopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); PARTICIPATES IN arginine and proline metabolic pathway; glutathione metabolic pathway; FOUND IN cytoplasm; extracellular vesicular exosome; focal adhesion; INTERACTS WITH arsenous acid; atrazine; diarsenic trioxide 4 4 4 p15.32 18043925 18074586 + 17578927 17609590 + 17577304 17607967 + 1580863;6480464;6907045 12477932;14702039;15489334;16009940;1602151;16513116;18029348;19056867;1908238;20379614;20562859;20877624;21139048;21832049;21890473;21900206;21906983;22505724;22863883;22990118;24250222;24457600;24583282;24816145;3733731;4692835;6350155;689684;752511;752543;8125298;8506345 51056 H0Y983;H0Y9Q1;P28838 ABBA01032610;ABBA01032611;ABBA01032612;ABBA01032613;AC006160;AF061738;AK022055;AK130293;AK225511;AK298613;AK298790;AK307723;AMYH02008822;BC006199;BC065564;BI827557;BM800626;CH471069;CR457128;FJ224308;NM_015907 AAD17527;AAH06199;AAH65564;ACI46000;BAG51065;BAG60795;BAG60927;CAG33409;EAW92780;NP_056991;P28838 Hs.570791 1696150;1775288;2118439;2152088;2152090;2219890 LAP3__6369;RH65094;SHGC-24779;SHGC-50545;SHGC-59685;SHGC-79088 HEL-S-106;LAP;LAP-3;PEPS LAPEP;OTTHUMP00000158664;cytosol aminopeptidase;epididymis secretory protein Li 106;leucyl aminopeptidase;peptidase S;proline aminopeptidase;prolyl aminopeptidase protein-coding ENSG00000002549 HGNC:18449 07516 170250 VALIDATED 6482762 LAP3P1 leucine aminopeptidase 3 pseudogene 1 6 6 83634546 83634841 - 82924827 82925122 - 100873864 ABBA01040448;AL355613;AMYH02014007;NG_032656 pseudo HGNC:42364 INFERRED 5135125 LAP3P2 leucine aminopeptidase 3 pseudogene 2 6 6 6 p21.2 38196568 38198263 + 36641527 36643222 + 36673750 36675445 + 389386 ABBA01038265;AL121715;AMYH02013558;NG_022353 1789685;2152088 RW1;SHGC-50545 pseudo HGNC:42365 INFERRED 1346215 LAPTM4A lysosomal protein transmembrane 4 alpha This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008] 2 2 2 p24.1 20094750 20114129 - 20232411 20251789 - 20032650 20052028 - 1580863;6480464 10942595;12477932;12766061;12975309;15342556;15489334;16169070;19322201;20972266;21139048;21553234;21621269;21890473;21906983;21963094;21987572;22096579;22505724;22939629;23000965;24250222;7788527;8621662 9741 Q15012;Q6IBP4 ABBA01018483;ABBA01018484;AC079145;AC098828;AK129875;AK304433;AMYH02003364;AY359028;BC000421;BC003158;BC093075;BP354016;CB962971;CD679337;CH471053;CR456758;D14696;DR156048;NM_014713 AAH00421;AAH03158;AAH93075;AAQ89387;AAX88938;AAY24172;ADZ15846;BAA03522;BAG65258;CAG33039;EAX00833;EAX00834;EAX00835;EAX00836;NP_055528;Q15012 Hs.467807 1654225;1663944;1673924;1712038;1767725;1767727;1796240 A005V18;D2S1999;G20533;LAPTM4A_1462;RH118716;RH17379;RH25334 HUMORF13;KIAA0108;LAPTM4;MBNT;Mtrp OTTHUMP00000115941;golgi 4-transmembrane-spanning transporter MTP;lysosomal-associated protein transmembrane 4 alpha;lysosomal-associated transmembrane protein 4A;membrane nucleoside transporter APPROVED protein-coding ENSG00000068697 HGNC:6924 13959 REVIEWED 1323527 LAPTM4B lysosomal protein transmembrane 4 beta INVOLVED IN transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 8 8 8 q22.1 94973714 95050765 + 98787809 98864830 + 97775581 97852602 + 1580863;6480464;8554872 11076863;11230166;12477932;12640618;12902989;15162524;15489334;15489336;15911104;15968325;16303743;16381901;16769693;17074969;17965115;18334282;18949404;19690886;19843073;20358632;20379614;20583413;20711237;20881850;21139048;21416470;21429547;21618708;21656743;22037872;22096579;22156622;22193644;22207410;22270081;22302286;22412199;22509374;22578410;22971479;22984585;22984631;23023342;23292099;23312008;23345117;23364988;23469012;24563515;24746178 55353 H0YBN1;Q86VI4 ABBA01037521;ABBA01037522;ABBA01037523;ABBA01037524;ABBA01037525;ABBA01037526;AF317417;AF527412;AI079853;AK075326;AK311377;AL136942;AMYH02018474;AMYH02018475;AMYH02018476;AP002906;AP003357;AY057051;AY198226;AY219176;AY219177;AY261384;BC014129;BC031021;BC038117;CH471060;NM_018407 AAH14129;AAH31021;AAH38117;AAK69595;AAL17908;AAO63563;AAO64358;AAO64359;AAO84265;AAP14034;BAC11549;CAB66876;CAL37604;CAL38567;EAW91763;NP_060877;Q86VI4 Hs.492314 1662493;1686893;2158316;5015619;5015961;5022322 D11S2560;D11S3114;D15S1477;RH65107;SHGC-31823;WI-18673 LAPTM4beta;LC27 OTTHUMP00000227369;OTTHUMP00000227371;lysosomal associated protein transmembrane 4 beta;lysosomal-associated transmembrane protein 4B;lysosome-associated transmembrane protein 4-beta protein-coding ENSG00000104341 HGNC:13646 613296 VALIDATED 1354375 LAPTM5 lysosomal protein transmembrane 5 This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009] 1 1 1 p34 29461191 29486564 - 31205315 31230683 - 30732468 30757836 - 1580863;6480464 12477932;12527926;12886255;15231748;17116753;18187620;18202799;18203646;19787053;19953087;21890473;21906983;22009753;22505724;22733818;22880058;23824909;25015289;7788527;8661146 7805 Q13571;Q5TBB8 ABBA01023497;AF401210;AK292009;AK297014;AL137027;AL137857;AMYH02000663;BC106896;BC106897;BF000809;CH471059;CT003824;D42042;NM_006762;U30498;U30499;U51240 AAA74018;AAB08975;AAI06897;AAI06898;BAA07643;BAF84698;BAG59547;EAX07640;EAX07641;NP_006753;Q13571 Hs.371021 1657702;1692190;1797812;2131067 AL033732;LAPTM5_1436;RH25313;SHGC-12619 CLAST6;FLJ61683;FLJ97251;MGC125860;MGC125861 CD40-ligand-activated specific transcripts;OTTHUMP00000003806;human retinoic acid-inducible E3 protein;lysosomal associated multispanning membrane protein 5;lysosomal multispanning membrane protein 5;lysosomal-associated multitransmembrane protein 5;lysosomal-associated transmembrane protein 5;retinoic acid-inducible E3 protein APPROVED protein-coding ENSG00000162511 HGNC:29612 03280 601476 REVIEWED 1318927 LARGE like-glycosyltransferase This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] 22 22 22 q12.3 17471158 18118297 - 33668509 34316464 - 33272523 33920476 - 1358756;1580863;6480464;7240710;8554872;8699517 12966029 10591208;12140558;12477932;15184894;15210115;15461802;15489334;15661757;15752776;15958417;17436019;17878207;18519826;19244252;19299310;20201926;20301468;20379614;20800603;21203384;21248746;21727005;21987822;22223806;22589738;23705025;23870195;24132234;24165912;24629698;24709677;24722188;9628581;9892679 9215 B0QY08;B0QY11;B0QYZ8;B0QYZ9;B0QZ00;B0QZ01;B0QZ02;B7ZB84;B7ZB85;O95461;X5DR28 AB011181;ABBA01055386;ABBA01055387;ABBA01055388;ABBA01055389;ABBA01055390;ABBA01055391;ABBA01055392;ABBA01055393;ABBA01055394;AI167885;AI198348;AI199197;AJ007583;AK294766;AK295636;AK301808;AK310462;AL008630;AL008640;AL008715;AL023577;AL096754;AL133451;AMYH02038276;AMYH02038277;AMYH02038278;AMYH02038279;AMYH02038280;AMYH02038281;BC117425;BC126404;BF057493;CH471095;CR456510;DR000293;KF457408;KF457413;KF457415;KF457416;KF457417;KF457420;KF510583;KF510588;KF510590;KF510591;KF511439;KF511440;KJ534877;KJ535033;KJ535073;KJ535074;NG_009929;NM_004737;NM_133642;XM_005261831;XM_005261832;XM_006724375;Z49866;Z54073;Z68287;Z68324;Z69042;Z69713;Z69715;Z69943;Z70288;Z73421;Z73429;Z76736;Z77853;Z82173;Z82179;Z97354 AAI17426;AAI26405;ADR83266;AHW56517;AHW56672;AHW56712;AHW56713;BAA25535;BAH11875;BAH12135;BAH13559;CAA07571;CAG30396;CAI17890;CAK54540;CAK54839;CAQ09433;CAQ09434;CAQ09435;CAX15214;CAX15215;EAW60041;EAW60042;EAW60043;NP_004728;NP_598397;O95461;XP_005261888;XP_005261889;XP_006724438 Hs.474667 1336985;1341353;1658252;1664014;1669304;1700870;1713161;1717909;1723539;1735052;1747437;1756309;1757059;1852464;2114319;2115200;2133774;2139767;2142590;2143335;2162054;2175235;2181630;2184554;5094396 A002V10;A004Q39;AL021653;Cda01d03;D22S1162;D22S1172;D22S1203;D22S38;D22S577;D22S579;D22S605;D22S739;D22S984E;DXS7708;G54753;G65342;RH104061;RH118587;RH120368;RH122781;SHGC-143268;SHGC-144435;SHGC-16516;STS-T94556;WI-13920 KIAA0609;MDC1D;MDDGA6;MDDGB6 OTTHUMP00000198703;OTTHUMP00000198704;acetylglucosaminyltransferase-like 1A;acetylglucosaminyltransferase-like protein;glycosyltransferase-like protein LARGE1;like-acetylglucosaminyltransferase APPROVED protein-coding ENSG00000133424 HGNC:6511 04665 603590;608840;613154 REVIEWED 7256609 LARGE-AS1 LARGE antisense RNA 1 22 22 34120972 34146804 + 33724986 33750817 + 12477932;14702039 100506195 ABBA01055392;AK057493;AMYH02038277;BC035866;BC043255;DB455410;KF510588;NR_038949;NR_038950;Z68324 Hs.658872 ncrna ENSG00000224973 HGNC:40336 VALIDATED 6481045 LARGE-IT1 LARGE intronic transcript 1 (non-protein coding) q12.3 16344560 100874331 DB024615;Z68324 Hs.691155 ncrna HGNC:41357 1603686 LARP1 La ribonucleoprotein domain family, member 1 ENCODES a protein that exhibits eukaryotic initiation factor 4E binding; mRNA 3'-UTR binding; mRNA 5'-UTR binding; INVOLVED IN cell proliferation; positive regulation of macroautophagy; positive regulation of translation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; membrane; nucleus; INTERACTS WITH 17beta-estradiol; bis(2-chloroethyl) sulfide; cobalt dichloride 5 5 5 q33.2 150169448 150274651 + 154062224 154197167 + 154682664 154817607 + 6480464;8554872 10878606;12477932;14702039;15060081;15302935;15324660;15489334;16964243;17081983;17267499;17353931;17979178;19322201;19542561;19596686;19608861;19710015;19946888;20020773;20360068;21139048;21145461;21890473;21900206;21906983;22053931;22113938;22586326;22623428;22863883;22939629;22952844;22990118;23000965;23443559;23602568;23667531;23711370;23825951;24255178;24457600;24532714;24778252;24816145;9872452 23367 E5RH50;E5RHK4;H0YAN4;H0YAX9;H0YBJ5;H0YBM7;H0YBR8;H0YBW1;H0YC33;H0YC73;Q6PKG0 AB018274;ABBA01026222;ABBA01026223;ABBA01026224;ABBA01026225;ABBA01026226;ABBA01026227;ABBA01026228;ABBA01026229;AC008379;AC112169;AK091465;AK307554;AK312203;AL133034;AMYH02012509;AMYH02012510;AMYH02012511;BC001460;BC003063;BC010144;BC015573;BC033856;BC038220;BQ003824;BQ422667;CH471062;KC877140;KF458036;NM_015315;XM_005268404;XM_005268406;XM_005268407;XM_005268408;XM_006714775;XM_006714776 AAH01460;AAH33856;ABZ92312;ADZ15536;BAA34451;BAC03668;BAG35136;CAB61364;EAW61632;EAW61633;EAW61634;NP_056130;Q6PKG0;XP_005268461;XP_005268463;XP_005268464;XP_005268465;XP_006714838;XP_006714839 Hs.292078 1656684;1672164;1674320;1691320;1735474;1780996;1857498;2166489;5017722 1956;D5S1595E;D6S2372;LARP1;RH17791;RH69928;RH81060;STS-N33780;bac5638T KIAA0731;LARP;MGC19556 OTTHUMP00000160694;OTTHUMP00000225969;la-related protein 1 protein-coding ENSG00000155506 HGNC:29531 11225 612059 VALIDATED 1605666 LARP1B La ribonucleoprotein domain family, member 1B This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and adjacent amino acids fold into an RNA recognition motif. The La motif is also found in proteins unrelated to the La protein. Alternative splicing has been observed at this locus and multiple variants, encoding distinct isoforms, are described. Additional splice variation has been identified but the full-length nature of these transcripts has not been determined. [provided by RefSeq, Jun 2013] 4 4 4 q28.2 126363570 126513216 + 128982421 129144086 + 128061266 128222931 + 6480464 12045101;12477932;14702039;16344560;19322201;21145461;21832049;21906983;21988832;22327645;22797925;23314748;8889549 55132 D6R9W6;D6RJB0;G3V0E9;H0Y9B4;H0Y9K3;Q659C4 AA037692;ABBA01044808;ABBA01044809;ABBA01044810;ABBA01044811;ABBA01044812;ABBA01044813;ABBA01044814;AC096898;AC099340;AC108045;AC114735;AC124030;AI374914;AK001240;AK027164;AK092764;AK098437;AK310421;AL137759;AL832170;AMYH02010075;AMYH02010076;AMYH02010077;AMYH02010078;AMYH02010079;AMYH02010080;BC002840;BC018794;BC030516;BC050654;BC062606;BC110300;BM129812;BX537937;CH471056;DA181086;DB230609;NM_001278604;NM_018078;NM_032239;NM_178043;XM_005263086;XM_005263087;XM_005263088;XM_005263089;XM_005263090;XM_005263092;XM_005263093;XM_005263094;XM_005263095;XM_005263097;XM_005263098;XM_005263100;XM_005263101;XM_006714249;XM_006714250;XM_006714251;XM_006714252 AAH30516;AAH50654;AAH62606;AAI10301;AAI48513;AAY41031;AAY41042;BAA91576;BAB15679;BAC03970;BAC05306;CAD97908;CAH56210;CAH56379;EAX05184;EAX05185;EAX05186;EAX05187;NP_001265533;NP_060548;NP_115615;NP_835144;Q659C4;XP_005263143;XP_005263144;XP_005263145;XP_005263146;XP_005263147;XP_005263149;XP_005263150;XP_005263151;XP_005263152;XP_005263154;XP_005263155;XP_005263157;XP_005263158;XP_006714312;XP_006714313;XP_006714314;XP_006714315 Hs.657067 1684580;1769895;1775758;1785052;1847049;2126257;2127671;2143841;2153590 G01821;RH80069;SHGC-14401;SHGC-154468;SHGC-24749;SHGC-50527;SHGC-51061;STS-H96643;STS-X16707 DKFZp686L13217;LARP2;MGC117277;MGC75174 La ribonucleoprotein domain family, member 2;OTTHUMP00000164482;OTTHUMP00000219824;OTTHUMP00000219825;OTTHUMP00000219826;OTTHUMP00000219827;OTTHUMP00000219828;la ribonucleoprotein domain family member 2;la-related protein 1B;la-related protein 2 APPROVED protein-coding ENSG00000138709 HGNC:24704 10963 REVIEWED 6484508 LARP1BP1 La ribonucleoprotein domain family, member 1B pseudogene 1 4 4 4 q13.1 61674836 61677085 + 64215735 64217192 + 63350017 63351474 + 644578 ABBA01022850;AC021856;AMYH02009337;NG_028891 2128398;2162507;2166284;2180997 D4S2863;G01779;SHGC-50617;SHGC-51419 pseudo HGNC:37097 INFERRED 6484482 LARP1BP3 La ribonucleoprotein domain family, member 1B pseudogene 3 X X X q26.2 133724646 133726770 + 133337813 133339937 + 134203783 134205907 + 644403 ABBA01042406;AC002407;AMYH02040525;NG_022704 1748115;2141526;5094462 AL008919;G54812;G66747 pseudo HGNC:44085 INFERRED 1354379 LARP1P1 La ribonucleoprotein domain family, member 1 pseudogene 1 6 6 6 p22 27393562 27397705 + 26164261 26168404 + 26164033 26168176 + 100379623;493819 ABBA01066553;ABBA01066554;AL353759;AMYH02013347;AMYH02013348;NG_029346 2166489 D6S2372 HCG10P;dJ221C16.7 APPROVED pseudo HGNC:23183 INFERRED 1603283 LARP4 La ribonucleoprotein domain family, member 4 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cytoskeleton organization; regulation of cell morphogenesis; FOUND IN membrane; INTERACTS WITH 17beta-estradiol; 2-methylcholine; benzo[a]pyrene diol epoxide I 12 12 12 q13.12 49590531 49670923 + 50794592 50873788 + 50400809 50480005 + 6480464 12477932;14702039;15498874;15572213;16344560;16682284;18781797;19322201;19946888;20020773;21098120;21139048;21145461;21693764;21832049;21890473;22505724;22586326;23000965;23537643;23887937;24778252;24816145;25027693;8619474;9110174 113251 E5RHZ8;E5RJH8;F8VNV1;F8VSA9;F8VXL0;F8VY40;F8VZ60;F8W1I4;F8W1Z5;Q6P4E2;Q71RC2;Q8TBL5;Q96J85;X6RLN4 ABBA01031572;ABBA01031573;ABBA01031574;ABBA01031575;ABBA01031576;AC090058;AF131755;AF370416;AK055521;AK125113;AK291746;AL050205;AL832198;AL833272;AMYH02026459;AMYH02026460;AW002420;AY004310;BC017395;BC022377;BC032444;BC063479;BX647457;CH471111;CR936626;DB061954;NM_001170803;NM_001170804;NM_001170808;NM_052879;NM_199188;NM_199190;NR_033200;XM_005268613;XM_006719215;XM_006719216 AAF86614;AAH17395;AAH22377;AAH63479;AAQ15252;ACE86572;ACE86666;ACE87255;ACE87350;BAB70940;BAC86052;BAF84435;CAI56769;EAW58139;EAW58140;EAW58141;EAW58142;EAW58143;EAW58144;EAW58145;EAW58146;EAW58147;EAW58148;NP_001164274;NP_001164275;NP_001164279;NP_443111;NP_954658;NP_954660;Q71RC2;XP_005268670;XP_006719278;XP_006719279 Hs.26613 1744341;2136253;2170910;5093478;5491286 A009P30;D12S1872;G32742;GDB:451748;UniSTS:234689 DKFZp686E039;MGC74631;PP13296 OTTHUMP00000224649;OTTHUMP00000224650;OTTHUMP00000224651;OTTHUMP00000224652;OTTHUMP00000224663;OTTHUMP00000224664;OTTHUMP00000241154;c-Mpl binding protein;la-related protein 4 protein-coding ENSG00000161813 HGNC:24320 17289 VALIDATED 1321780 LARP4B La ribonucleoprotein domain family, member 4B This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012] 10 10 10 p15.3 805808 882035 - 852854 977645 - 806914 931705 - 737633;6480464;8554872 12477932 12388589;15164054;15489334;16964243;17081983;19299548;19322201;19946888;20138158;20379614;20573744;21139048;21145461;21890473;21906983;21988832;22586326;22678362;22939624;22939629;23602568;24163370;24778252;9039502 23185 B5MCU2;H0Y4V9;H0Y641;Q92615;V9GYI5;X6RCG6 ABBA01035262;AL157709;AL359878;AMYH02021984;AMYH02021985;BC003381;BC131630;BC152443;CH471072;CR749653;D86971;HY013410;NM_015155;XM_005252431;XM_005252432;XM_005252433;XM_005252435;XM_006717436 AAH03381;AAI31631;AAI52444;BAA13207;CAH18446;EAW86530;EAW86531;NP_055970;Q92615;XP_005252488;XP_005252489;XP_005252490;XP_005252492;XP_006717499 Hs.159069 1644402;1648041;1671849;1677622;1695016;1718453;1728055;1736052;2138944;2143037;2150864;2178546;2187464;5024409;5093882 A006M38;A009Y17;D10S1315E;D10S1324E;D10S1357E;D10S2271;G21398;G29158;G32979;G44721;G63298;RH122427;RH76373;RH79186;WI-13461 DKFZp686M23113;KIAA0217;LARP5;RP11-164C1.3 La ribonucleoprotein domain family, member 5;OTTHUMP00000018944;la ribonucleoprotein domain family member 5;la-related protein 4B;la-related protein 5 protein-coding ENSG00000107929 HGNC:28987 13787 REVIEWED 3302346 LARP4P La ribonucleoprotein domain family, member 4 pseudogene 15 15 15 q14 13669299 13673173 + 36909213 36910624 + 36617012 36618423 + 554354 ABBA01038496;AC013640;AC103988;AMYH02030197;NG_016303;NG_034055 pseudo HGNC:21438 INFERRED 1605069 LARP6 La ribonucleoprotein domain family, member 6 ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); INVOLVED IN regulation of translation (inferred); RNA processing (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); ribonucleoprotein complex (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; 5-aza-2'-deoxycytidine 15 15 15 q23 48014786 48037397 - 71123889 71146498 - 70831524 70854265 - 6480464 12477932;14702039;15489334;16344560;17081983;17383118;18029348;19889961;19917293;21387291;21832049;21873549;22139627;22558309;23887937;24469459 55323 H0YMC6;K7EPD2;Q9BRS8 ABBA01038750;AC009269;AC090868;AF443828;AF443829;AI376944;AK002058;AK130092;AL833876;AMYH02030722;AMYH02030723;BC006082;BC009446;BC014018;BC039153;BI913258;CH471082;DA715263;DN992782;NM_001286679;NM_018357;NM_197958 AAH06082;AAH09446;AAH14018;AAH39153;AAN76710;AAN76711;BAA92061;CAD38733;EAW77860;EAW77861;NP_001273608;NP_060827;NP_932062;Q9BRS8 Hs.416755 2119463 WI-19667 ACHN;FLJ11196 OTTHUMP00000164516;acheron;death-associated LA motif protein;la-related protein 6 protein-coding HGNC:24012 10966 611300 VALIDATED 1604813 LARP7 La ribonucleoprotein domain family, member 7 This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 4 4 4 q25 110852197 110872835 + 113558120 113578748 + 112636964 112657592 + 6480464;8699517;8554872;7240710 12477932;15146197;16344560;17643375;18029348;18191186;18249148;18281698;18483487;20332099;20360068;20410271;20471949;20562857;20683478;20811636;21145461;21832049;21853533;21900206;21957495;22113938;22190034;22488152;22567366;22586326;22863883;22865833;22990118;23340209;23455922;23455924;23518577;23602568;23678366;23887937;24250222;24367103;24457600;24607481;24778252;24816145;8125298;8889548 51574 D6R9Z6;D6RAF3;D6RBH8;D6RF22;D6RF49;D6RFF0;H0YA82;Q4G0J3 ABBA01063816;AC106864;AF068284;AI652351;AK000274;AK225900;AL049996;AMYH02009937;AMYH02009938;BC006981;BC066945;BC107709;BM979591;BX647100;CA314598;CH471057;CN346208;DB270203;EU667388;NG_032779;NM_001267039;NM_015454;NM_016648;NR_049768 AAF65503;AAH06981;AAH66945;AAI07710;ACD13786;CAB43230;EAX06282;EAX06283;EAX06284;EAX06285;NP_001253968;NP_056269;NP_057732;Q4G0J3 Hs.713663 1651799;2109381;5123663 G33497;HDCMA18P_9741;SHGC-35945 DKFZp564K112;HDCMA18P;MGC104360;PIP7S ALAZS;OTTHUMP00000163828;OTTHUMP00000219762;P-TEFb-interaction protein for 7SK stability;la-related protein 7 APPROVED protein-coding ENSG00000174720 HGNC:24912 17095 612026;615071 REVIEWED 8548391 LARP7P4 La ribonucleoprotein domain family, member 7 pseudogene 4 3 3 3 143662858 143663739 + 145241313 145242194 + 145523526 145524407 + 100421509 ABBA01058994;AC073895;AMYH02007850;NG_025752 pseudo HGNC:49766 INFERRED 1312707 LARS leucyl-tRNA synthetase This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. Alternatively spliced transcript variants of this gene have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008] 5 5 5 q32 141572531 141642218 - 145492589 145562294 - 146113026 146182731 - 1580863;6480464;6907045 10200289;10718198;10913161;11042152;11181995;11714285;11829477;12477932;14702039;16055448;16344560;1651330;17353931;17363246;17378584;18187620;18446061;18781797;19426743;19702327;19738201;20562859;20805241;21081666;21139048;21145461;21319273;21890473;21906983;21963094;22190034;22424946;22505724;22607940;22623428;22863883;22939629;23000965;23125841;24654937;24816145;25027693;6933703;8052601;8078941;8125298;8188258;8449960;9278442;9878398 51520 B4DER1;B4DJ10;Q9P2J5 AB037773;ABBA01026344;ABBA01026345;AC091887;AC091959;AF151026;AK000277;AK001457;AK001682;AK021413;AK023777;AK025441;AK095870;AK127009;AK225372;AK293750;AK295874;AK304134;AK315178;AL390155;AMYH02012403;AMYH02012404;AMYH02012405;AY513284;AY926480;BC068041;BC105581;BC110084;BC131798;BC150213;BC151214;BC152422;CH471062;CK902545;D84223;DB086913;NM_020117;U56252 AAF36112;AAH68041;AAI05582;AAI31799;AAI50214;AAI51215;AAI52423;AAT08037;AAX10025;BAA91702;BAA91833;BAA92590;BAA95667;BAB13817;BAB14674;BAG37619;BAG54421;BAG57172;BAG58672;BAG65028;CAB99091;EAW61848;EAW61849;EAW61850;NP_064502;Q9P2J5 Hs.432674 1688434;1697984;1757707;1780696;1785256;1785728;2174166;5015404;5015961;5016781;5020635;5020740;5022463;5022578;5024039;5037552;5037554 D15S1477;D16S325;D1S1423;D3S1673;D7S3207;D8S2279;D8S2282;L17705;L17809;RH102521;RH11474;SGC31858;SHGC-104997;SHGC-146339;SHGC-67307;SHGC-80759;bac51638T FLJ10595;FLJ21788;HSPC192;ILFS1;KIAA1352;LARS1;LEUS;LFIS;LRS;PIG44;RNTLS;hr025Cl LEURS;OTTHUMP00000223912;OTTHUMP00000223913;cytoplasmic leucyl-tRNA synthetase;cytosolic leucyl-tRNA synthetase;leucine tRNA ligase 1, cytoplasmic;leucine translase;leucine--tRNA ligase;leucine--tRNA ligase, cytoplasmic;leucine-tRNA ligase;leucyl-tRNA synthetase, cytoplasmic;proliferation-inducing gene 44 APPROVED protein-coding ENSG00000133706 HGNC:6512 01042 151350;615438 REVIEWED 1318191 LARS2 leucyl-tRNA synthetase 2, mitochondrial This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 45368449 45528754 + 45430053 45590334 + 45388561 45548842 + 1580863;6480464;6907045;8699517;7240710;8554872 10647888;10684970;12477932;12527375;12549915;12821328;15123417;15161933;15489334;15737668;15919814;1684970;18796578;19129950;19847392;20194621;20877624;21903180;23541342;24654937;24816145;25254289;7584026;7584028;9408748 23395 C9IZR7;C9JYR8;E9PHM2;Q15031 ABBA01024725;ABBA01024726;ABBA01024727;ABBA01024728;AC006515;AC092500;AC099539;AJ312685;AK025465;AK026113;AK308146;AMYH02006661;AMYH02006662;AMYH02006663;AMYH02006664;BC025989;BI463427;CH471055;D21851;KF457627;NG_033907;NM_015340;XM_005265006 AAH25989;ABM92170;ABW03301;BAA04877;CAC35916;EAW64740;NP_056155;Q15031;XP_005265063 Hs.526975 1660487;1691016;1706796;1709708;1731365;2129575;2154865;2160255;2219892 D3S1358;D3S2354;LARS2__6372;RH25266;RH92625;SHGC-12886;SHGC-80871;SHGC-86343;STS-D21851 KIAA0028;MGC26121;PRLTS4 LEURS;OTTHUMP00000164232;OTTHUMP00000210279;OTTHUMP00000210280;leucine tRNA ligase 2, mitochondrial;leucine tRNA ligase 2, mitocondrial;leucine translase;probable leucine--tRNA ligase, mitochondrial;probable leucyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000011376 HGNC:17095 05178 604544;615300 REVIEWED 6483988 LARS2-AS1 LARS2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred); PERRAULT SYNDROME 4 (inferred) 3 3 p21.31 45524187 45551037 - 45482695 45509545 - 8554872 16344560 100885795 ABBA01024726;AC099539;AMYH02006661;AMYH02006662;DB017595;DB335501;HG495640;KF457627;NG_033907;NR_048543 Hs.641094 RP11-107O13.1 APPROVED ncrna HGNC:40796 VALIDATED 1354295 LAS1L LAS1-like (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN rRNA processing (inferred); FOUND IN cytoplasm; membrane; microtubule organizing center; INTERACTS WITH lead(0); lead(2+); menadione X X X q12 65079606 65101830 - 64732462 64754686 - 65512582 65534806 - 737633;6480464 12477932 12429849;14702039;15489334;15635413;15772651;15960975;16196087;16344560;16964243;17353931;18029348;19394292;19471022;19946888;20442285;20647540;21139048;21145461;21282530;21549307;21693764;21890473;21906983;21963094;21987572;22083961;22190735;22505724;22586326;22939629;22990118;23443559;23667531;24457600;24654937;24778252;25027693;8125298 81887 Q9Y4W2;R4GNF7 ABBA01067022;AF116730;AK022587;AK054695;AK054817;AK074087;AK097383;AK125760;AK127207;AK225059;AK295591;AL050306;AMYH02039609;AMYH02039610;BC014545;BC018610;BC019302;CH471132;DA619280;DQ323624;DQ323625;DQ323626;NG_016369;NM_001170649;NM_001170650;NM_031206;XM_005262301;XM_005262303;XM_005262304;XM_005262305;XM_005262306;XM_005262307;XR_244504;XR_430522 AAH14545;AAH18610;AAH19302;AAO15306;ABD39127;ABD39128;ABD39129;BAB14114;BAB84913;BAG51428;BAG53459;BAG54243;BAH12117;EAX05401;EAX05402;EAX05403;EAX05404;NP_001164120;NP_001164121;NP_112483;Q9Y4W2;XP_005262358;XP_005262360;XP_005262361;XP_005262362;XP_005262363;XP_005262364 Hs.522675 1698498 RH102799 FLJ12525;FLJ30133;FLJ45274;Las1-like;RP3-475B7.2;dJ475B7.2 OTTHUMP00000023435;OTTHUMP00000023436;OTTHUMP00000023437;protein LAS1 homolog;ribosomal biogenesis protein LAS1L protein-coding ENSG00000001497 HGNC:25726 06519 VALIDATED 68601 LASP1 LIM and SH3 protein 1 This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012] 17 17 17 q11-q21.3 33687074 33739007 + 37026112 37078023 + 38869859 38921770 + 1580863;6480464 12432067;12477932;12571245;12665801;14702039;15004028;15146197;15465019;15489334;16094384;16189514;16430883;17211471;17376794;17956604;18029348;19060904;19155088;19177205;19718473;19738201;20360068;20379614;20419088;20461080;20660701;20812987;20843712;20924110;21044950;21139048;21215099;21890473;21906983;21987572;22481019;22505724;22514729;22665060;22713668;22897902;22940702;23000965;23040864;23084841;23254782;23275563;23463506;23968734;24386158;24816145;25027693;7490069;7589475;9688835;9848085 3927 B4DIC4;C9J9W2;F6S2S5;J3KSN1;K7ESD6;Q14847 ABBA01031894;AC006441;AC110749;AK095958;AK289847;AK294704;AK295522;AK296092;AK307868;AK309933;AMYH02033366;AMYH02033367;BC007367;BC007560;BC012460;BQ961916;CH471152;CN371189;DC324561;DC333179;NM_001271608;NM_006148;NR_073384;X82456 AAH07560;AAH12460;ABM82465;ABM85654;BAF82536;BAG57861;BAG58436;BAG58846;CAA57833;EAW60543;EAW60544;EAW60545;NP_001258537;NP_006139;Q14847 Hs.741156 1339788;1669195;1790223;2160366;2167881 A008J32;CSSM15;D17S838;IB1521;RM186 Lasp-1;MLN 50;MLN50 LIM and SH3 domain protein 1;OTTHUMP00000164238;OTTHUMP00000164239;metastatic lymph node gene 50 protein APPROVED protein-coding ENSG00000002834 HGNC:6513 04229 602920 REVIEWED 1342944 LAT linker for activation of T cells The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 27951162 27957119 + 28996147 29002104 + 28984826 28990783 + 1580863;6480464;6907045 10021361;10072481;10204488;10224278;10449770;10469124;10488157;10506192;10562325;10781611;10811803;10942756;11048639;11259588;11279207;11368773;11390470;11572860;11607830;11752630;11756537;12029091;12077228;12084069;12186560;12359715;12438705;12477932;12515827;12570875;12646565;12847255;12857726;14523017;14696041;14702039;14722116;14996932;15029250;15100278;15144186;15153499;15174051;15449076;15489334;15659558;15696170;15699071;15745852;16160011;16236370;16460687;16464244;16467851;16906159;16938345;17192395;17492476;17652306;17938199;18579528;18645037;18683785;19018007;19068093;19343046;19380807;19427038;19615732;19710135;19915061;20237496;20723025;20875087;20890395;20940326;21102463;21152094;21251717;21282515;21282648;21508261;21642986;21966541;21988832;22034845;22396725;22802418;22984075;22998346;23240581;23360572;23487428;23514740;23986795;24038088;24200054;24204825;8063801;8798643;8995379;9489702;9529333;9729044;9846481;9846483;9891970 27040 C7C5T5;C7C5T7;H3BQD8;O43561 ABBA01045680;AC109460;AF036905;AF036906;AJ223280;AK093815;AK307342;AMYH02031820;BC011563;BI769296;BI911769;CH471267;FN432831;FN432832;FN432833;FN432834;NM_001014987;NM_001014988;NM_001014989;NM_014387 AAC39636;AAC39637;AAH11563;CAA11218;CBA11532;CBA11533;CBA11534;CBA11535;EAW52024;EAW52025;EAW52026;EAW52027;EAW52028;EAW52029;EAW52030;EAW52031;NP_001014987;NP_001014988;NP_001014989;NP_055202;O43561 Hs.632179 2183319;5015404;5022651 D11S2921;L17705;SHGC-61115 LAT1;p36-38;pp36 36 kDa phospho-tyrosine adapter protein;36 kDa phospho-tyrosine adaptor protein;OTTHUMP00000162563;OTTHUMP00000162564;linker for activation of T cells, transmembrane adaptor;linker for activation of T-cells family member 1 APPROVED protein-coding ENSG00000213658 HGNC:18874 03832 602354 REVIEWED 1342914 LAT2 linker for activation of T cells family, member 2 This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 69103651 69123730 + 73624087 73644164 + 74209757 74229834 + 1549872;6480464 11003705 11042152;11124535;12477932;12486104;12514734;12853948;14702039;14722116;15010370;15153499;15489334;15745852;16160011;16713569;17192395;17277102;17993265;18645037;19183565;19343046;19808856;19879355;20643813;21139048;21890473;22269118;23000965;23001822;24456692;25015289;8125298;8808592;8812460 7462 C9JA24;C9JDY7;C9JXP0;F8W947;Q9GZY6 ABBA01063903;ABBA01063904;ABBA01063905;ABBA01063906;AC005081;AF045555;AF086239;AF161531;AF252611;AF252612;AF252613;AF252614;AF257135;AI492348;AK002099;AK092904;AK225150;AK290074;AK290916;AMYH02016040;AMYH02016041;AMYH02016042;AX083396;AX878172;AY190023;BC001609;BC006080;BC009204;BM468969;CH471200;NG_023256;NM_014146;NM_032463;NM_032464;XM_005250562 AAF29018;AAF74978;AAF91352;AAH01609;AAH09204;AAK37429;AAK37430;AAK37431;AAK37633;AAO63155;AAS07404;AAS07405;ACE87022;ACE87709;BAA92084;BAF82763;BAF83605;BAG52627;CAC33299;CAE90041;EAW69609;EAW69610;EAW69611;EAW69612;EAW69613;EAW69614;NP_054865;NP_115852;NP_115853;Q9GZY6;XP_005250619 Hs.741249 1669102;1769348;1774515;1790409;1849601;2108995;2180254;5024039;5037552 D16S325;D7S2101E;D7S2789;D7S3269;D8S2279;HSC10F112;SGC32507;SHGC-56095;WBSCR5_8726 HSPC046;LAB;NTAL;WBSCR15;WBSCR5;WSCR5 OTTHUMP00000160648;OTTHUMP00000179118;OTTHUMP00000179119;OTTHUMP00000212052;OTTHUMP00000213098;OTTHUMP00000233173;Williams-Beuren syndrome chromosome region 15;linker for activation of B cells;linker for activation of B-cells;linker for activation of T cells, transmembrane adaptor 2;linker for activation of T-cells family member 2;membrane-associated adapter molecule;non-T cell activation linker;non-T-cell activation linker;williams-Beuren syndrome chromosomal region 15 protein;williams-Beuren syndrome chromosomal region 5 protein APPROVED protein-coding ENSG00000086730 HGNC:12749 09304 605719 REVIEWED 1349703 LATS1 large tumor suppressor kinase 1 The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. Two protein-coding transcripts and one non-protein coding transcript have been found for this gene. [provided by RefSeq, Jul 2012] 6 6 6 q25.1 150717306 150774645 - 149979289 150039392 - 149658153 149718256 - 1580863;6480464 10518011;10831611;12372621;12379777;12477932;12624101;15122335;15144186;15220930;15302935;15489334;15688006;15746036;16007220;16061636;16674920;17049657;17130845;17379520;17889669;18158288;18328708;18413746;18640976;19739119;19799973;19927127;19962312;20048001;20407010;20453000;20508983;20624913;20841485;20936779;21041411;21139048;21145461;21145499;21212414;21233212;21383157;21555462;21822051;21832049;22078877;22195963;22623531;22641346;22863277;22909338;23230145;23564455;23573293;23885148;24026096;24101513;24106267;24225952;24255178;24682895;25026211;7743921;7829101;9988268;9988269 9113 H0YG09;O95835;Q6PJG3 ABBA01025674;ABBA01025675;ABBA01025676;ABBA01025677;AF104413;AF164041;AK310422;AL358852;AL583963;AMYH02014696;AMYH02014697;AW021064;BC002767;BC015665;BX276089;CH471051;NM_001270519;NM_004690;NR_073033;XM_006715603 AAD16882;AAD50272;AAH02767;AAH15665;EAW47792;NP_001257448;NP_004681;O95835;XP_006715666 Hs.549084 1707560;1767339;2118898;2219896 G17023;LATS1__6377;SHGC-84591;WIAF-1623 WARTS;wts LATS (large tumor suppressor, Drosophila) homolog 1;LATS, large tumor suppressor, homolog 1;OTTHUMP00000237239;OTTHUMP00000237240;WARTS protein kinase;h-warts;large tumor suppressor homolog 1;serine/threonine-protein kinase LATS1 APPROVED protein-coding ENSG00000131023 HGNC:6514 09147 603473 REVIEWED 1314216 LATS2 large tumor suppressor kinase 2 This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq, Jul 2008] 13 13 13 q11-q12 2609110 2697695 - 21547175 21635722 - 20973036 21061583 - 1580863;6480464;8554872 10673337;10871863;12477932;12853976;14702039;15131260;15147269;15265683;15688006;15746036;16413547;16564011;17015431;17049657;18158288;18413746;18565851;18640976;18927464;19008013;19322201;19501585;19739119;19797269;19799973;19855428;19919647;19937137;20335167;20379614;20508983;20624913;20841485;20858893;20932276;21041410;21041411;21118956;21233212;21245096;21278236;21498571;21822051;21832154;21952048;22020941;22098159;22286172;22863277;23111389;23267128;23852372;23886938;24026096;24101513;24106267;24157836;24225952;24255178;24360964;24735543;25026211 26524 Q59EB4;Q9NRM7 AB028019;AB209897;ABBA01068595;ABBA01068596;ABBA01068597;AF207547;AK123520;AK314235;AL161613;AL356285;AMYH02027651;AMYH02027652;AMYH02027653;AMYH02027654;BC036437;BC071572;BC127671;BQ774580;CH471075;DB452765;NM_014572;XM_005266342 AAF80561;AAI56424;AAI72545;BAA92381;BAD93134;BAG36905;EAX08286;EAX08287;NP_055387;Q9NRM7;XP_005266399 Hs.78960 2117775;5022200;5022578;5037552 D1S1423;D8S2279;L18426;SHGC-33925 FLJ13161;KPM LATS (large tumor suppressor, Drosophila) homolog 2;LATS, large tumor suppressor, homolog 2;OTTHUMP00000018106;kinase phosphorylated during mitosis protein;large tumor suppressor homolog 2;serine/threonine kinase KPM;serine/threonine-protein kinase LATS2;serine/threonine-protein kinase kpm;warts-like kinase APPROVED protein-coding ENSG00000150457 HGNC:6515 07277 604861 REVIEWED 6481277 LATS2-AS1 LATS2 antisense RNA 1 q12.11 100874066 AL356285 APPROVED ncrna HGNC:39912 1606285 LAX1 lymphocyte transmembrane adaptor 1 ENCODES a protein that exhibits protein kinase binding; SH2 domain binding; INVOLVED IN B cell activation; immune response; inactivation of MAPK activity; FOUND IN cytoplasm; Golgi apparatus; integral component of membrane; INTERACTS WITH crocidolite asbestos; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); trimellitic anhydride (ortholog) 1 1 1 q32.1 176864509 176875721 + 203734284 203745500 + 203765156 203776372 + 6480464 12359715;12477932;14702039;15489334;15843560;18029348;18981125;19536175;19946888;22505724;22662118;24515439;24722188;8125298 54900 Q8IWV1 ABBA01027471;AC114402;AK000347;AK225331;AK301076;AK301421;AMYH02002517;AMYH02002518;AY090784;BC069650;BC089408;CH471067;DC414389;NM_001136190;NM_001282878;NM_017773;XM_006711397;XM_006711398 AAH69650;AAH89408;AAM09818;BAA91101;BAG62682;BAH13480;EAW91489;EAW91490;EAW91491;NP_001129662;NP_001269807;NP_060243;Q8IWV1;XP_006711460;XP_006711461 Hs.272794 1709172;2184051;5020946 D1S2087;L17971;SHGC-85748 FLJ20340;LAX LAT-like membrane associated protein;OTTHUMP00000034094;OTTHUMP00000034095;linker for activation of x cells;lymphocyte transmembrane adapter 1;membrane-associated adapter protein LAX protein-coding ENSG00000122188 HGNC:26005 08312 VALIDATED 1604525 LAYN layilin ENCODES a protein that exhibits hyaluronic acid binding; FOUND IN focal adhesion; cell surface (ortholog); ruffle (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; arsenite(3-) 11 11 11 q23.1 108564419 108584973 + 111411233 111432470 + 111540508 111561745 + 6480464 11294894;12477932;12975309;14702039;15489334;15913605;16344560;21139048;23000965;23048036;23251661;9786953 143903 B4DDS5;E9PI98;E9PK64;E9PMI0;E9PQU7;E9PQY8;E9PR90;Q6UX15 ABBA01039819;AK055539;AK055654;AK293317;AK296231;AK298165;AMYH02025573;AP002008;AY358554;BC025407;CH471065;DA608521;DB006476;NM_001258390;NM_001258391;NM_178834;XM_006718769;XM_006718770 AAH25407;AAQ88918;BAB70946;BAB70978;BAG56836;BAG58952;BAG60438;EAW67143;EAW67144;EAW67145;NP_001245319;NP_001245320;NP_849156;Q6UX15;XP_006718832;XP_006718833 Hs.503831 FLJ30977;FLJ31092 OTTHUMP00000234053;OTTHUMP00000234054;OTTHUMP00000234055;OTTHUMP00000234057 protein-coding ENSG00000204381 HGNC:29471 17299 VALIDATED 1604281 LBH limb bud and heart development INVOLVED IN regulation of blood coagulation; regulation of gene expression; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; all-trans-retinoic acid 2 2 2 p23.1 30288761 30325820 + 30454397 30482899 + 30231531 30260033 + 6480464 11076863;11181995;11230166;11336496;12477932;14702039;15489336;15958514;16094384;16381901;17192395;17390236;18029348;18391951;19240061;20546612;20587334;20606007;21383967;21810271;21988832;24390342;8125298;8889548 81606 B5MBX5;B5MC28;B5MCM2;B5MCP4;F8WC18;Q53QV2 ABBA01074839;AC104698;AF110224;AF258555;AI302040;AK023425;AK027232;AK092206;AK223541;AK314598;AL136703;AMYH02003516;BC012373;BC109376;BC126434;BC130415;BU687531;CH471053;CN485291;EF025586;NM_030915 AAG23758;AAI09377;AAI26435;AAI30416;AAL36912;AAY24349;ABK30936;ADR83474;BAD97261;BAG37169;CAB66638;CAL37943;CAL38159;NP_112177;Q53QV2 Hs.567598;Hs.593113 1644285;1644287;1780042;2144726 A001X24;A005C12;G19750;SHGC-154296 DKFZp566J091;MGC104312;MGC163287;hLBH OTTHUMP00000201112;OTTHUMP00000201113;limb bud and heart development homolog APPROVED protein-coding ENSG00000213626 HGNC:29532 13965 611763 VALIDATED 1604294 LBHD1 LBH domain containing 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cobalt dichloride; copper(2+) sulfate; diazinon 11 11 11 q12.3 59759867 59768820 - 62430289 62439241 - 62662817 62671769 - 6480464;8554872 12477932;14702039;16196087;17154719;21139048 79081 E9PMK4;E9PQ29;E9PRG8;F5H6J2;Q9BQE6 ABBA01003235;ABBA01003236;AK055736;AK124145;AK302538;AMYH02024895;AMYH02024896;AP001458;AX888070;BC001434;BI831485;CH471076;NM_024099 AAH01434;BAG63810;CAE93995;EAW74052;EAW74053;EAW74054;EAW74055;EAW74056;EAW74057;EAW74058;NP_077004;Q9BQE6 Hs.9061 1671442;1769769;5022200;5022578;5022651;5109281 D11S2921;D11S4642;D1S1423;D1S1425;L18426;RH66004 MGC2477 OTTHUMP00000236272;OTTHUMP00000236273;OTTHUMP00000236274;hypothetical protein LOC79081;uncharacterized protein C11orf48 APPROVED protein-coding ENSG00000162194 HGNC:28351 14499 VALIDATED 1347766 LBP lipopolysaccharide binding protein The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012] 20 20 20 q11.23 33683680 33714456 + 36974814 37005653 + 38346411 38377011 + 1580863;6480464;6484113;6907045;7247704;8554872 22119168 10079194;10453023;10768924;10811873;10919979;11373419;11528597;11544322;11598069;11739189;11773072;11780052;11976738;11991204;12117913;12417309;12477932;12521224;12538700;12594207;12615620;12754215;12831460;12932360;14718574;15127192;15618154;15932345;16303759;16493079;16512634;16907704;16928689;18029348;18056482;18056918;18288274;18397383;18559343;18783308;18987746;19010986;19056867;19200604;19423540;19522765;19560454;19707138;19718443;19913121;20346360;20379614;20381257;20406964;20438785;20530747;20628086;20800603;20865702;21353369;21633598;21702700;21722015;21740312;21901123;21988832;22476641;22552880;22736337;22960476;23349936;23382691;23430250;23463341;24024966;2402637;24120359;24276451;24312369;2477488;7517398;7583357;8409400;8432532;8663389;8985160;9179291;9240454;9338787;9441745;9568897;9665271 3929 P18428;Q8TCF0 ABBA01052520;ABBA01052521;ABBA01052522;ABBA01052523;AF013512;AF105067;AK313625;AL080249;AL391095;AMYH02037060;AMYH02037061;AY344471;BC022256;BQ028088;CH471077;L42172;M35533;NG_034239;NM_004139;X98657 AAA59493;AAA66446;AAC39547;AAD21962;AAH22256;AAR03787;ABM82320;ABM85360;BAG36385;CAA67226;CAC10462;EAW76033;EAW76034;NP_004130;P18428 Hs.154078 1788466;2160684;2217554 LBP_2743;RH11581;fa14e09.s1 BPIFD2;MGC22233 BPI fold containing family D, member 2;LPS-binding protein;OTTHUMP00000030965;lipopolysaccharide-binding protein APPROVED protein-coding ENSG00000129988 HGNC:6517 07175 151990 REVIEWED 736984 LBR lamin B receptor The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q42.1 198779808 198807126 - 225589204 225616557 - 225401502 225428855 - 1600215;2316868;2316857;6480464;7240710;9479148;8554872;8699517 12118250;12668600;16876788;24035451 10049757;10390541;10744724;10828963;11034899;11846796;12438562;12477932;12490158;12490533;12618959;14617022;14701833;14702039;14718546;15324660;15489334;15698635;15882967;16344560;17274640;17353931;17620599;17725712;18029348;19331822;19454010;19645629;19913121;19940018;19946888;20576617;20628086;21103616;21139048;21252943;21326950;21327084;21327094;21795390;21890473;21906983;21987572;22052904;22354994;22412018;22505724;22581323;22939629;23000965;23382691;23602568;23824842;24293108;24457600;24816145;2847165;7679672;8125298;8157662;8157663;8663349;8838815;9003786;9169472;9878250 3930 C9JES9;C9JXK0;Q14739 AB209514;ABBA01009674;AC092811;AK125116;AK222834;AK303589;AK312258;AMYH02002785;AU134026;AW504657;BC020079;BE243907;CH471098;CQ834832;DA447510;DB091880;L25931;L25937;L25941;NG_008099;NM_002296;NM_194442;XM_005273125 AAA59494;AAA59495;AAH20079;ABM81975;ABM85153;BAD92751;BAD96554;BAG35190;BAG64605;CAH05631;EAW69741;EAW69742;EAW69743;NP_002287;NP_919424;Q14739;XP_005273182 Hs.435166;Hs.735694 1645884;1654149;1700402;1705142;2110485;2122944;5037552 D8S2279;LBR_8434;RH103821;RH64516;SHGC-12892;SHGC-76434;SHGC-80004 DHCR14B;FLJ43126;LMN2R;MGC9041;PHA;TDRD18 OTTHUMP00000035631;integral nuclear envelope inner membrane protein;lamin-B receptor;tudor domain containing 18 APPROVED protein-coding ENSG00000143815 HGNC:6518 02488 169400;215140;600024;613471 REVIEWED 1606568 LBX1 ladybird homeobox 1 This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008] 10 10 10 q24 96724401 96726385 - 102986733 102989954 - 101226976 101230327 - 6480464 11309850;12477932;12913067;15164054;15489334;16600870;19651985;22019779;22301463;23096252;23308168;7518789;8645601 10660 P52954;Q6LBH2 ABBA01063204;AJ004949;AL135794;AMYH02023669;BC069156;BC136321;CH471066;NG_009236;NM_006562;X74863;X90828;XM_005269443 AAH69156;AAI36322;CAA06237;CAA52856;CAA62342;EAW49777;NP_006553;P52954;XP_005269500 Hs.37128 5492715 UniSTS:482114 HPX-6;HPX6;LBX1H OTTHUMP00000180669;homeobox;lady bird-like homeobox;ladybird homeobox homolog 1;ladybird homeobox protein homolog 1;transcription factor LBX1;transcription factor similar to D. melanogaster homeodomain protein lady bird late APPROVED protein-coding HGNC:16960 09178 604255 REVIEWED 7245672 LBX1-AS1 LBX1 antisense RNA 1 (head to head) 10 10 10 q24.31 96727019 96736278 + 102989351 102998616 + 101229594 101238859 + 14702039 399806 AA431734;ABBA01063204;AK096698;AK123344;AK294034;AL133387;AL135794;AMYH02023669;NR_029380 BAG57386 Hs.386143 1689881 RH92279 RP11-324L3.3 ncrna HGNC:48678 VALIDATED 1347358 LBX2 ladybird homeobox 2 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 2 2 2 p13.1 74555808 74561607 - 74724644 74730443 - 74497517 74503316 - 6480464 11386758;12477932;9847074 85474 G3V218;Q6XYB7 ABBA01075602;AC005041;AMYH02004091;AY203953;AY305861;BC150517;CH471053;NM_001009812;NM_001282430;XM_006712124;XM_006712125 AAI50518;AAI60076;AAP34476;AAP74384;EAW99636;NP_001009812;NP_001269359;Q6XYB7;XP_006712187;XP_006712188 Hs.516124 1670276;1672312 RH70325;STS-AA037704 LP3727 OTTHUMP00000202660;OTTHUMP00000243937;lady bird-like homeobox 2;lady bird-like homeobox 2 (drosophila);ladybird homeobox homolog 2;ladybird homeobox protein homolog 2;ladybird-like homeobox 2;ladybird-like homeodomain protein 2;transcription factor LBX2 protein-coding ENSG00000179528 HGNC:15525 16235 607164 VALIDATED 1602293 LBX2-AS1 LBX2 antisense RNA 1 INTERACTS WITH quercetin 2 2 2 p13.1 74560908 74563356 + 74729744 74732192 + 74502617 74505065 + 6480464 11181995;12477932;14702039;24905231 151534 ABBA01075602;AC005041;AK096725;AK125271;AMYH02004091;BC009264;BC101224;BC101225;BC101226;BC101227;CH471053;NR_024606 EAW99634;EAW99635 Hs.745121 1670276;1672312;5493167 RH70325;STS-AA037704;UniSTS:484522 MGC120166 APPROVED ncrna ENSG00000257702 HGNC:25136 14091 PREDICTED 1346881 LCA3 Leber congenital amaurosis 3 ASSOCIATED WITH Leber Congenital Amaurosis 3 (inferred) 7240710 9799089 3789 HGNC:6520 604232 1318396 LCA5 Leber congenital amaurosis 5 This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009] 6 6 6 q14.1 80609792 80662233 - 80194708 80247147 - 79484991 79537430 - 6480464;7240710;8554872;8699517 10631161;12477932;12642313;14574404;15489334;16082399;17546029;18000884;18334959;19172513;19503738;19800048;20301475;21302353;21850168;23509613;23602568;23946133;24144451;8889548 167691 Q86VQ0;S4R3K6 ABBA01040410;ABBA01040411;AK299314;AL391840;AL832214;AMYH02013969;BC050327;BE883302;BX648161;CF890814;CH471051;NG_016011;NM_001122769;NM_181714;XM_005248665 AAH50327;ADZ15609;BAG61324;EAW48705;EAW48706;NP_001116241;NP_859065;Q86VQ0;XP_005248722 Hs.21945 1704714;1849707;2163612;2164005;2164007 A002Y30;A005V06;G20527;RH46625;SHGC-79017 C6orf152 Lebercilin;OTTHUMP00000016774;OTTHUMP00000165989;leber congenital amaurosis 5 protein APPROVED protein-coding ENSG00000135338 HGNC:31923 10791 604537;611408 REVIEWED 1345568 LCA5L Leber congenital amaurosis 5-like INTERACTS WITH benzo[a]pyrene; 17beta-estradiol (ortholog) 21 21 21 q22.2 25975464 26013823 - 40777770 40817676 - 39405844 39445791 - 6480464 10830953;12477932;15489334;17546029;23455924 150082 C9J198;C9J293;C9J5D2;C9J9Z3;C9JFB6;C9JIJ8;C9JRD7;C9JYR0;O95447;U3KPS7 ABBA01009337;AF121781;AL163279;AMYH02037832;AMYH02037833;AMYH02037834;BC026122;BC031059;BC043006;BX647793;BX648744;CH471079;NM_152505;XM_005260926;XM_006723967;XM_006723968;XM_006723969;XM_006723970;XM_006723971;XM_006723972;XM_006723973 AAD12066;AAH31059;AAH43006;CAB90455;EAX09641;EAX09642;EAX09643;EAX09644;NP_689718;O95447;XP_005260983;XP_006724030;XP_006724031;XP_006724032;XP_006724033;XP_006724034;XP_006724035;XP_006724036 Hs.517284 1675377;1689354;1793990;1808542;1808628;1810868;1811554;1813200;1813348;1813416;1814006;1814722;1815712;1817326;1818018;1818518;1818520;1821228;1821484;1821556;1823076;1824124;1825692;1826100;1826282;1831008;1831130;1831998;1832930;1833826;1835808;1836722;1837364;1838332;1846016;1857740;1899310;1899312;1899314;1899316;1899318;1899320;1899322;1899324;1899326;1899328;1899330;1899332;1899334;1899336;1899338;1899340;1899342;1899344;1899346;1899348;1899350;1899352;1899354;1899356;1899358;1899360;1899362;1899364;1899366;1899368;1899370;1899372;1899374;1899376;1899378;1899380;1899382;1899384;1899386;1899388;1899390;1899392;1899394;1899396;1899398;1899400;1899402;1899404;1899406;1899408;1899410;1899412;1899414;1899416;1899418;1899420;1899422;1899424;1899426;1899428;1899430;1899432;1899434;1899436;1899438;1899440;1899442;1899444;1899446;1899448;1899450;1899452;1899454;1899456;1899458;1899460;1899462;1899464;1899466;1899468;1899470;1899472;1899474;1899476;1899478;1899480;1899482;1899484;1899486;1899488;1899490;1899492;1899494;1899496;1899498;1899500;1899502;1899504;1899506;1899508;1899510;1899512;1899514;1899516;1899518;1899520;1899522;1899524;1899526;1899528;1899530;1899532;1899534;1899536;1899538;1899540;1899542;1899544;1899546;1899548;1899550;1899552;1899554;1899556;1899558;1899560;1899562;1899564;1899566;1899568;1899570;1899572;1899574;1899576;1899578;1899580;1899582;1899584;1899586;1899588;1899590;1899592;1899594;1899596;1899598;1899600;1899602;1899604;1899606;1899608;1899610;1899612;1899614;1899616;1899618;1899620;1899622;1899624;1899626;1899628;1899630;1899632;1899634;1899636;1899638;1899640;1899642;1899644;1899646;1899648;1899650;1899652;1899654;1899656;1899658;1899660;1899662;1899664;2184192;2203206;2203208;2203210;2203212;2203214;2203216;2203218;2203220;2203222;2203224;2203226;2203228;2203230;2203232;2203234;2203236;2203238;2203240;2203242;2203244;2203246;2203248;2203250;2203252;2203254;2203256;2203258;2203260;2203262;2203264;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;ECD05253;ECD05296;ECD06432;ECD06780;ECD07620;ECD07695;ECD07729;ECD08030;ECD08392;ECD08894;ECD09713;ECD10065;ECD10321;ECD10322;ECD11691;ECD11826;ECD11864;ECD12626;ECD13158;ECD13954;ECD14159;ECD14253;ECD16640;ECD16701;ECD17137;ECD17606;ECD18059;ECD19065;ECD19525;ECD19849;ECD20340;ECD24228;G34554;PMC310729P1;REN20453;REN20454;REN20455;REN20456;REN20457;REN20458;REN20459;REN20460;REN20461;REN20462;REN20463;REN20464;REN20465;REN20466;REN20467;REN20468;REN20469;REN20470;REN20471;REN20472;REN20473;REN20474;REN20475;REN20476;REN20477;REN20478;REN20479;REN20480;REN20481;REN20482;REN20483;REN20484;REN20485;REN20486;REN20487;REN20488;REN20489;REN20490;REN20491;REN20492;REN20493;REN20494;REN20495;REN20496;REN20497;REN20498;REN20499;REN20500;REN20501;REN20502;REN20503;REN20504;REN20505;REN20506;REN20507;REN20508;REN20509;REN20510;REN20511;REN20512;REN20513;REN20514;REN20515;REN20516;REN20517;REN20518;REN20519;REN20520;REN20521;REN20522;REN20523;REN20524;REN20525;REN20526;REN20527;REN20528;REN20529;REN20530;REN20531;REN20532;REN20533;REN20534;REN20535;REN20536;REN20537;REN20538;REN20539;REN20540;REN20541;REN20542;REN20543;REN20544;REN20545;REN20546;REN20547;REN20548;REN20549;REN20550;REN20551;REN20552;REN20553;REN20554;REN20555;REN20556;REN20557;REN20558;REN20559;REN20560;REN20561;REN20562;REN20563;REN20564;REN20565;REN20566;REN20567;REN20568;REN20569;REN20570;REN20571;REN20572;REN20573;REN20574;REN20575;REN20576;REN20577;REN20578;REN20579;REN20580;REN20581;REN20582;REN20583;REN20584;REN20585;REN20586;REN20587;REN20588;REN20589;REN20590;REN20591;REN20592;REN20593;REN20594;REN20595;REN20596;REN20597;REN20598;REN20599;REN20600;REN20601;REN20602;REN20603;REN20604;REN20605;REN20606;REN20607;REN20608;REN20609;REN20610;REN20611;REN20612;REN20613;REN20614;REN20615;REN20616;REN20617;REN20618;REN20619;REN20620;REN20621;REN20622;REN20623;REN20624;REN20625;REN20626;REN20627;REN20628;REN20629;REN20630;RH94177;SHGC-32517;SHGC-6832;stSG622756;stSG622757;stSG622758;stSG622759;stSG622760;stSG622761;stSG622762;stSG622763;stSG622764;stSG622765;stSG622766;stSG622767;stSG622768;stSG622769;stSG622770;stSG622772;stSG622773;stSG622774;stSG622775;stSG622776;stSG622777;stSG622778;stSG622779;stSG622780;stSG622781;stSG622782;stSG622783;stSG622784;stSG622785;stSG622786 C21orf13;MGC33295 Lebercilin-like protein;OTTHUMP00000069084;OTTHUMP00000069085;leber congenital amaurosis 5-like protein protein-coding ENSG00000157578 HGNC:1255 10742 VALIDATED 737383 LCAT lecithin-cholesterol acyltransferase This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52482244 52486472 - 67973787 67978656 - 67939884 67944112 - 1581773;1581787;1600654;1581779;1581780;1581769;1581781;1581778;1580863;6480464;6907045;7240710;8554872;8699517 11966470;12139471;12673583;12935429;15280162;16061733;16258026;16640830 10026251;10222237;10559507;10722751;10858436;11435418;11882335;12032172;12048121;12051518;12167653;12174215;12417987;12477932;12573451;12957688;12966036;14651331;1468226;14718574;15102891;15110745;15115696;1516702;15210842;15231747;15297675;15472210;15489334;15544352;15654758;1571050;1587806;15936482;15994445;16051254;16115486;16216249;16335952;1644835;16542392;16543491;1662503;16770077;16780378;1681161;16883530;17113061;17206937;17216278;17272829;17357073;1737840;17526537;17711302;17855807;18178167;18193043;18397721;18485513;1859405;18676680;18719109;18782872;18823627;18922527;18996102;19060906;19060910;19170196;19306528;19336370;19515369;19625176;19671930;19687369;19692168;19698944;19800416;19878569;19913121;19948975;20031551;20160193;20167577;2052566;20571754;20628086;20634891;20679960;20686565;20714348;20855565;20864672;20884842;20890173;20972250;21315357;21347282;21597230;21600519;21659329;21798542;21822774;21875686;21901787;22090275;22133847;22189200;22326749;22418575;23023370;23078883;23132909;23142243;23152129;2370048;24097068;24140107;24383078;24423117;24620755;2823801;2823898;2880847;3104518;3458198;3674753;3797244;4335615;6078131;6624548;7607641;7613477;7711728;806250;8318557;8326012;8432868;8675648;8807342;9162740;9829992 3931 I3L0J6;I3L1Q6;I3L215;I3L3R0;J3QKT0;J3QSE5;P04180 ABBA01025467;AC040162;AF140503;AMYH02032244;AY422210;BC014781;BT009748;CH471092;M12625;M17959;M26268;NG_009778;NM_000229;S74079;X04981;X06537 AAA59498;AAA59499;AAA59500;AAB20750;AAD28484;AAH14781;AAP88750;AAR03499;CAA28651;CAB56610;EAW83190;NP_000220;P04180 Hs.387239 1677604;1741357;1741601;1776732;1798164;1853812;5021682;5123001 G11801;GDB:180918;GDB:181557;RH70676;RH79953;SHGC-61154;SLC12A4_2007;ksks15 OTTHUMP00000174856;lecithin cholesterol acyltransferase;phosphatidylcholine-sterol acyltransferase;phospholipid-cholesterol acyltransferase APPROVED protein-coding ENSG00000213398 HGNC:6522 06098 136120;245900;606967 REVIEWED 1349719 LCCS1 lethal congenital contracture syndrome 1 ASSOCIATED WITH Lethal Arthrogryposis With Anterior Horn Cell Disease (inferred); Lethal congenital contracture syndrome 1 (inferred) 7240710 9683599 8012 HGNC:30995 253310;611890 1345859 LCE1A late cornified envelope 1A LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratum corneum proteins, and these genes are expressed relatively late during fetal assembly of the skin cornified envelope (Jackson et al., 2005 [PubMed 15854049]). For further information on the LCE gene cluster, see GENE FAMILY below.[supplied by OMIM, Feb 2009] 1 1 1 q21.3 125870205 125870537 + 152799949 152800573 + 152827473 152828097 + 6480464;8554872 11698679;15854049;16710414 353131 Q5T7P2 ABBA01049426;AC246972;AL162596;CH471121;NM_178348 AAI46368;AAI53156;EAW53362;NP_848125;Q5T7P2 Hs.534645 2220498 UniSTS:483578 LEP1 OTTHUMP00000014400;late cornified envelope protein 1A;late envelope protein 1 APPROVED protein-coding HGNC:29459 13966 612603 VALIDATED 1349264 LCE1B late cornified envelope 1B INVOLVED IN keratinization (inferred); INTERACTS WITH (-)-demecolcine; (S)-nicotine; arsenite(3-) 1 1 1 q21.3 125854703 125855841 + 152784447 152785585 + 152811971 152813109 + 6480464 11698679;12477932;15854049;16710414 353132 Q5T7P3 ABBA01049426;AC246972;AL162596;BC031811;BC104232;BC104233;BC133657;CH471121;NM_178349 AAI04233;AAI04234;EAW53363;NP_848126;Q5T7P3 Hs.375103 2220632 UniSTS:486661 LEP2;SPRL2A OTTHUMP00000016119;late cornified envelope protein 1B;late envelope protein 2;small proline rich-like (epidermal differentiation complex) 2A;small proline-rich-like epidermal differentiation complex protein 2A protein-coding ENSG00000196734 HGNC:16611 17259 612604 VALIDATED 1344293 LCE1C late cornified envelope 1C INVOLVED IN keratinization (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; disodium selenite; 17alpha-ethynylestradiol (ortholog) 1 1 1 q21.3 125847567 125849363 - 152777311 152779107 - 152804835 152806631 - 6480464 11698679;15854049;16710414;20379614;20643763 353133 Q5T751;U3KQM4 ABBA01049426;AC246972;AL353779;CH471121;NM_001276331;NM_178351 AAI40395;AAI46478;EAW53364;EAW53365;NP_001263260;NP_848128;Q5T751 Hs.516429;Hs.660502 2155100;5493833 STS-AA029647;UniSTS:495188 LEP3 OTTHUMP00000014399;late cornified envelope protein 1C;late envelope protein 3 protein-coding HGNC:29464 13967 612605 VALIDATED 1354412 LCE1D late cornified envelope 1D INVOLVED IN cellular response to calcium ion; cognition; FOUND IN cornified envelope; cytoplasm; perinuclear region of cytoplasm; INTERACTS WITH arsenite(3-); benzo[a]pyrene; paracetamol 1 1 q21.3 152769227 152770657 + 152796751 152798181 + 6480464 11698679;15854049;16710414 353134 Q5T752 ABBA01006071;AC246972;AL353779;BG697954;NM_178352 AAI60112;NP_848129;Q5T752 Hs.490235 2220500 UniSTS:483579 LEP4 OTTHUMP00000014398;late cornified envelope protein 1D;late envelope protein 4 protein-coding ENSG00000172155 HGNC:29465 13968 612606 VALIDATED 1342802 LCE1E late cornified envelope 1E INVOLVED IN keratinization (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 1 1 1 q21.3 125836828 125838902 + 152758753 152760902 + 152786277 152788426 + 737633;6480464 12477932 11698679;15854049;16710414 353135 Q5T753 ABBA01049425;ABBA01049426;AC246972;AL353779;BC038391;CH471121;NM_178353 AAI60110;EAW53366;EAW53367;NP_848130;Q5T753 Hs.250236 2220500 UniSTS:483579 LEP5 OTTHUMP00000014335;OTTHUMP00000014397;late cornified envelope protein 1E;late envelope protein 5 protein-coding ENSG00000186226 HGNC:29466 13969 612607 VALIDATED 1346167 LCE1F late cornified envelope 1F INVOLVED IN keratinization (inferred); INTERACTS WITH disodium selenite; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q21.3 125826923 125827279 + 152748848 152749445 + 152776372 152776969 + 6480464 11698679;15854049;16710414;18316326 353137 Q5T754 ABBA01049425;AC246972;AL353779;CH471121;NM_178354 AAI40331;AAI46482;BAG73340;EAW53368;NP_848131;Q5T754 Hs.553712 LEP6 OTTHUMP00000016098;late cornified envelope protein 1F;late envelope protein 6 protein-coding HGNC:29467 13970 612608 VALIDATED 1351409 LCE2A late cornified envelope 2A INVOLVED IN keratinization (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 17alpha-ethynylestradiol (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 1 1 1 q21.3 125748904 125749982 + 152670840 152671918 + 152698364 152699442 + 6480464 11329013;11698679;12477932;15854049;16710414 353139 Q5TA79 ABBA01049425;AC246972;AL139247;BC119707;BC127647;BG217525;CH471121;JB025800;NM_178428 AAI19708;CCV20018;EAW53371;NP_848515;Q5TA79 Hs.334054 LEP9 OTTHUMP00000014329;late cornified envelope protein 2A;late envelope protein 9 protein-coding ENSG00000187173 HGNC:29469 13971 612609 VALIDATED 1347147 LCE2B late cornified envelope 2B This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cultured keratinocytes or in any other tested cell types or tissues. [provided by RefSeq, Jul 2008] 1 1 1 q21 125736662 125737940 + 152658599 152659877 + 152686123 152687401 + 6480464;8554872 11329013;11698679;12477932;15854049;9344646 26239 O14633 ABBA01049425;AC246972;AF005080;AF086289;AL139247;BC117235;BC117237;BG211939;CH471121;JB025798;NM_014357 AAB83960;AAI46414;CCV20017;EAW53372;NP_055172;O14633 Hs.234766 2109463;2129638;5492613;5492893 LCE2B_9475;SHGC-57859;UniSTS:481796;UniSTS:483178 LEP10;SPRL1B;XP5 OTTHUMP00000014334;late cornified envelope protein 2B;late envelope protein 10;skin-specific protein Xp5;small proline rich-like (epidermal differentiation complex) 1B;small proline-rich-like epidermal differentiation complex protein 1B APPROVED protein-coding ENSG00000159455 HGNC:16610 17260 612610 REVIEWED 1344616 LCE2C late cornified envelope 2C INVOLVED IN keratinization (inferred); INTERACTS WITH copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q21.3 125725834 125727113 + 152647791 152649050 + 152675315 152676574 + 6480464 11698679;12477932;15854049;16710414 353140 Q5TA81 ABBA01049424;AC246972;AL139247;BC125197;CH471121;NM_178429 AAI60113;EAW53373;NP_848516;Q5TA81 Hs.553713 LEP11 OTTHUMP00000014326;late cornified envelope protein 2C;late envelope protein 11 protein-coding ENSG00000187180 HGNC:29460 13972 612611 VALIDATED 1347104 LCE2D late cornified envelope 2D INVOLVED IN keratinization (inferred); INTERACTS WITH disodium selenite; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q21.3 125713937 125715200 + 152635887 152637135 + 152663411 152664659 + 6480464 11698679;12477932;15854049;16710414 353141 Q5TA82 ABBA01049424;AC246972;AL139247;AW300079;BC130603;BC130605;CH471121;NM_178430 AAI30604;AAI30606;EAW53374;NP_848517;Q5TA82 Hs.490225 LEP12;SPRL1A OTTHUMP00000016117;late cornified envelope protein 2D;late envelope protein 12;small proline rich-like (epidermal differentiation complex) 1A;small proline-rich-like epidermal differentiation complex protein 1A protein-coding ENSG00000187223 HGNC:16518 17261 612612 VALIDATED 1348988 LCE3A late cornified envelope 3A INVOLVED IN keratinization (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; paracetamol; chloroethene (ortholog) 1 1 1 q21.3 125673374 125673643 - 152595310 152595579 - 152622834 152623103 - 6480464 11698679;12477932;15854049;16710414;18316326;19169255;19601998;25036637 353142 Q5TA76 ABBA01049423;AL139247;AMYH02001896;BC120933;BC120934;CH471121;NM_178431 AAI52958;BAI46950;EAW53376;NP_848518;Q5TA76 Hs.553714 LEP13;MGC184217 OTTHUMP00000016103;late cornified envelope protein 3A;late envelope protein 13 protein-coding ENSG00000185962 HGNC:29461 13973 612613 VALIDATED 1346486 LCE3B late cornified envelope 3B INVOLVED IN keratinization (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; paracetamol 1 1 1 q21.3 122904018 122904305 + 152586287 152586574 + 152613811 152614098 + 6480464 11698679;12477932;15854049;16710414;19169253;20016497;20213803;20331852;20376060;20624365;21107349;21400479;21435436;21509048;21628307;21711330;21995181;22048733;22384135;22512642;22926764;23631431 353143 Q5TA77 ABBA01049423;AL139247;CH878618;NM_178433 AAI60117;EAW50651;NP_848520;Q5TA77 Hs.553715 LEP14 OTTHUMP00000016102;late cornified envelope protein 3B;late envelope protein 14 protein-coding ENSG00000187238 HGNC:29462 13974 612614 VALIDATED 1343921 LCE3C late cornified envelope 3C INVOLVED IN keratinization (inferred); INTERACTS WITH cadmium dichloride; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chloroethene (ortholog) 1 1 1 q21.3 122890869 122891293 + 152573138 152573562 + 152600662 152601086 + 6480464 11698679;12477932;15854049;16710414;18854154;19169253;20016497;20213803;20331852;20376060;20624365;21107349;21400479;21435436;21509048;21628307;21711330;21995181;22048733;22384135;22512642;22926764;23631431 353144 Q5T5A8 ABBA01049423;AL139247;AL356426;BC130365;BC130367;CH878618;NM_178434 AAI30366;AAI30368;ADR82782;EAW50650;NP_848521;Q5T5A8 Hs.490211 LEP15;SPRL3A OTTHUMP00000016120;late cornified envelope protein 3C;late envelope protein 15;small proline rich-like (epidermal differentiation complex) 3A;small proline-rich-like epidermal differentiation complex protein 3A protein-coding ENSG00000244057 HGNC:16612 17262 612615 VALIDATED 1352688 LCE3D late cornified envelope 3D INVOLVED IN keratinization (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; chloroethene (ortholog); progesterone (ortholog) 1 1 1 q21 125662668 125663788 - 152551860 152552980 - 152579384 152580504 - 6480464 11698679;12477932;15489334;15854049;16710414;19169255;20953190;21208785;23602568 84648 Q0VAS7;Q9BYE3 AB048288;ABBA01049418;AL356426;AMYH02001893;BC069291;BC101784;BC120935;BC120936;CH471121;NM_032563 AAH69291;AAI01785;AAI20936;AAI20937;BAB40643;EAW53377;NP_115952;Q9BYE3 Hs.244349 5492969;5493999 UniSTS:480714;UniSTS:483458 LEP16;MGC126833;SPRL6A;SPRL6B OTTHUMP00000014324;late cornified envelope protein 3D;late envelope protein 16;small proline rich-like (epidermal differentiation complex) 6A;small proline rich-like (epidermal differentiation complex) 6B;small proline-rich-like epidermal differentiation complex protein 6A;small proline-rich-like epidermal differentiation complex protein 6B protein-coding ENSG00000163202 HGNC:16615 17263 612616 VALIDATED 1346899 LCE3E late cornified envelope 3E INVOLVED IN keratinization (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; chloroethene (ortholog) 1 1 1 q21.3 125648938 125650056 - 152538175 152539229 - 152565699 152566753 - 6480464 11698679;12477932;15854049;16710414;19721433;20585627 353145 Q5T5B0 ABBA01049418;AL356426;AMYH02001893;BC131716;CH471121;NM_178435 AAI31717;EAW53378;NP_848522;Q5T5B0 Hs.490208 LEP17 OTTHUMP00000014330;late cornified envelope protein 3E;late envelope protein 17 protein-coding ENSG00000185966 HGNC:29463 13975 612617 VALIDATED 1345430 LCE4A late cornified envelope 4A INVOLVED IN keratinization (inferred); INTERACTS WITH hydrogen peroxide; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q21.3 125759587 125759992 + 152681523 152681910 + 152709047 152709434 + 6480464 11698679;12477932;15489334;15854049;16710414 199834 Q5TA78 AL139247;BC113446;BC113448;CH471121;KF455034;NM_178356 AAI13447;AAI13449;ADR82790;EAW53370;NP_848133;Q5TA78 Hs.447955 1713009;2220486 RH120595;UniSTS:483538 LEP8;SPRL4A OTTHUMP00000016107;late cornified envelope protein 4A;late envelope protein 8;small proline rich-like (epidermal differentiation complex) 4A;small proline-rich-like epidermal differentiation complex protein 4A protein-coding ENSG00000187170 HGNC:16613 17264 612618 VALIDATED 1352803 LCE5A late cornified envelope 5A INVOLVED IN keratinization (inferred); INTERACTS WITH aflatoxin B1 1 1 1 q21.3 125594141 125595474 + 152483320 152484653 + 152510844 152512177 + 6480464 11698679;15854049;16710414;19601998;19896111 254910 Q5TCM9 ABBA01049418;AL135842;AMYH02001893;AW291010;CH471121;NM_178438 AAI40435;AAI56867;EAW53380;NP_848525;Q5TCM9 Hs.516410 2219714;2220466;5493809 SPRL5A__5301;UniSTS:483006;UniSTS:494910 LEP18;SPRL5A OTTHUMP00000016118;late cornified envelope protein 5A;late envelope protein 18;small proline rich-like (epidermal differentiation complex) 5A;small proline-rich-like epidermal differentiation complex protein 5A protein-coding ENSG00000186207 HGNC:16614 17265 612619 VALIDATED 1343793 LCE6A late cornified envelope 6A INVOLVED IN keratinization (inferred); ASSOCIATED WITH Melanoma (inferred) 1 1 1 q21.3 125885590 125886719 + 152815330 152816459 + 152842854 152843983 + 8554872 11329013;15854049 448835 A0A183 ABBA01049426;AC246972;AL162596;BG210316;CS300793;DQ991251;NM_001128600 A0A183;ABJ55982;CAK32457;NP_001122072 Hs.62927 C1orf44 OTTHUMP00000210240;chromosome 1 open reading frame 44;late cornified envelope protein 6A protein-coding ENSG00000235942 HGNC:31824 VALIDATED 1353715 LCEP1 late cornified envelope pseudogene 1 1 1 1 q21.3 125794856 125795163 + 152716775 152717082 + 152744299 152744606 + 15854049 450208 ABBA01049425;AC246972;AL353779;NG_006116 pseudo HGNC:31806 INFERRED 1342794 LCEP2 late cornified envelope pseudogene 2 1 1 1 q21.3 125788075 125788425 + 152709994 152710344 + 152737518 152737868 + 15854049 450209 ABBA01049425;AC246972;AL353779;NG_006117 pseudo HGNC:31807 INFERRED 1346595 LCEP3 late cornified envelope pseudogene 3 1 1 1 q22 125706873 125707052 + 152628808 152628987 + 152656332 152656511 + 15854049 450211 ABBA01049424;AL139247;AMYH02001896;NG_006119 pseudo HGNC:31809 INFERRED 1348136 LCEP4 late cornified envelope pseudogene 4 1 1 1 q21.3 125694934 125695258 - 152616869 152617193 - 152644393 152644717 - 15854049 450210 ABBA01049423;AL139247;AMYH02001896;NG_006118 pseudo HGNC:31808 INFERRED 1344945 LCK LCK proto-oncogene, Src family tyrosine kinase This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants, encoding the same protein, have been described. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 30987010 31022233 + 32716840 32751766 + 32251239 32286165 + 1600225;1580863;1600221;2316557;5131492;6480464;6484113;6907045;8699517 14507881;15380937;16828835;17711737 10208934;10209036;10214954;10229084;10318843;10330160;10358157;10364375;10383400;10422873;10430626;10447714;10449731;10455176;10482988;10488096;10544125;10553045;10574931;10617656;10636863;10642173;10652356;10669745;10733577;10748115;10764799;10790433;10799545;10799874;10799879;10816433;10825200;10858437;10880360;10896916;10918587;10921922;10975838;11048639;11067948;11075717;11278465;11278738;11294838;11294897;11298344;11351273;11369760;11381116;11389730;11431473;11525746;11572860;11591716;11739864;11741599;11741929;11741956;11827988;11839738;11854499;11855827;11904433;12007789;12036857;12055221;12100025;12150984;12171035;12181444;12186560;12237775;12359715;12370810;12401726;12429743;12468540;12477932;12485116;12496362;12527887;12538589;12560083;12565834;12570875;12589038;12614355;12628756;12637327;12645944;12660731;12697812;12732664;12734017;12746907;12755691;12817007;12835311;12837766;12884910;12899942;12923183;1351058;1382070;1385527;14500983;14523017;14534291;14583609;14592831;14610044;14623872;14625311;14688329;14699120;14702039;14757743;14766232;1491632;14965316;14993658;1500851;15016553;15047060;15078178;15085197;15096483;15144186;15163734;15186530;15199125;15263807;15322115;15331563;1535086;1535787;15371598;1548763;15489916;15536084;15554700;15638726;15641485;15671290;15687496;15696170;15707590;15743820;15751964;15784897;1579166;15867154;15870274;15892963;15958529;15967991;15976924;15980863;16099425;16107303;16116473;16185072;16195219;16219325;1622897;16245368;16257509;16274251;16293614;16339550;16344560;16354835;16374509;1638019;16446405;16461343;16474166;16600997;16740747;16769579;16806069;16818765;16860758;16888650;16899217;16938345;17005671;17008721;17078813;1709155;17118402;17266559;17382937;17586321;17632570;17652306;17897955;17897956;17910071;17932036;17998336;18029348;18030346;18067320;18314490;18424699;18473783;1850098;18541536;18683785;18714047;18792408;18854243;18991294;19010391;19019957;19050260;19109140;19149577;19167335;19168706;19192391;19201754;19201869;19343496;19439470;19592652;19776125;19850743;1988541;19912576;20007709;20012528;20035083;20040600;20056178;20064523;20098747;2014052;20237292;20300113;20305788;20360068;20372794;20379614;2040625;20421494;2047859;20538612;20541955;20555418;20594957;20729329;20835359;20842205;20971076;2115123;21152094;21234523;21266711;214242;21453975;21508261;21738584;21757751;21819973;21834013;21900206;21917715;21952639;21983898;22034844;22034845;22123847;22345475;22378744;22422068;22457183;22505724;22537596;22613726;22674786;22802418;22863785;22939624;23202272;23227982;23505068;23559827;23601552;23872305;23931554;23946459;23986795;24155921;24227778;24231767;24447338;24454946;24688028;2470098;24816145;2558056;2787474;2835736;2850479;3257410;3265417;3489486;3493153;7486703;7494315;7495859;7504174;7512963;7513045;7513706;7522245;7539035;7539106;7539724;7543024;7545683;7657660;7680610;7682059;7690989;7774645;7831289;7852312;7853525;7859737;7871751;7896837;7961936;8020561;8062594;8077654;8086341;8104794;8114715;8139546;8246987;8258691;8262984;8294442;8405050;8473339;8506364;8551220;8576115;8576267;8618896;8626429;8626543;8626561;8636141;8648738;8650207;8663450;8671590;8692915;8702662;8794306;8797825;8798643;8798764;8864141;8870842;8871625;8879209;8883579;8887682;8900205;8910285;8939988;8943371;8945479;8995379;9020138;9032261;9036944;9038134;9043947;9045636;9047237;9075929;9091579;9092949;9121430;9123823;9169414;9178760;9178909;9195899;9257837;9269777;9312162;9341123;9341793;9344703;9403695;9446569;9461588;9488700;9573028;9621091;9624175;9664084;9685404;9687533;9705913;9710204;9712716;9741627;9751747;9778343;9788619;9790917;9792645;9880255;9973379;9973453;9989602 3932 E9PAP0;E9PI33;E9PJ92;E9PKQ8;E9PQ10;F8W6B9;P06239;Q573B4 AA747421;ABBA01023431;ABBA01023432;ABBA01023433;ABBA01023434;AF228313;AJ865079;AK098027;AK303073;AL109945;AL121991;AMYH02000706;AMYH02000707;AMYH02000708;AMYH02000709;AMYH02000710;BC013200;BN000073;CH471059;DA007906;DB122062;DB129997;HY261581;M21510;M26692;M26693;M36824;M36881;NG_023387;NM_001042771;NM_005356;U07236;X04476;X05027;X06369;X13529;X14055;XM_005270862;XM_005270863;XM_005270864 AAA18225;AAA59501;AAA59502;AAA59503;AAF34794;AAH13200;ABM82601;ABM85787;BAG53565;BAG64189;CAA28165;CAA28691;CAA29667;CAA31884;CAA32211;CAD55807;CAI23831;EAX07542;EAX07543;EAX07544;EAX07545;EAX07546;NP_001036236;NP_005347;P06239;XP_005270919;XP_005270920;XP_005270921 Hs.470627 1796242;2129737;2145243;2160382;2175344 LCK_1394;RH69098;SHGC-12348;SHGC-74495;SHGC-74532 IMD22;LSK;YT16;p56lck;pp58lck OTTHUMP00000008640;OTTHUMP00000008740;OTTHUMP00000008741;OTTHUMP00000228508;T-lymphocyte specific protein tyrosine kinase p56lck;leukocyte C-terminal Src kinase;lymphocyte cell-specific protein-tyrosine kinase;lymphocyte-specific protein tyrosine kinase;p56(LSTRA) protein-tyrosine kinase;proto-oncogene tyrosine-protein kinase LCK;t cell-specific protein-tyrosine kinase;tyrosine-protein kinase Lck APPROVED protein-coding ENSG00000182866 HGNC:6524 01080 153390;615758 REVIEWED 1347425 LCLAT1 lysocardiolipin acyltransferase 1 ENCODES a protein that exhibits 1-acylglycerol-3-phosphate O-acyltransferase activity (inferred); transferase activity, transferring acyl groups (inferred); INVOLVED IN cardiolipin acyl-chain remodeling (inferred); CDP-diacylglycerol biosynthetic process (inferred); cellular lipid metabolic process (inferred); PARTICIPATES IN glycerophospholipid metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; paracetamol 2 2 2 p23.1 30513207 30710198 + 30670102 30867091 + 30447236 30644225 + 1580863;6480464;6907045;8554872 12477932;12975309;14702039;15152008;16620771;17675553;19075029;19322201;19946888;21139048;21890473;21906983;21963094;24457600;24779708;8889548 253558 C9J5S5;C9J6F4;C9JA02;C9JMW2;C9JUV9;C9JXY8;C9K0C3;F8WEY2;Q6UWP7 AA455668;ABBA01074845;ABBA01074846;AC073255;AC132154;AK023269;AK095284;AK296965;AK297262;AK302562;AMYH02003517;AMYH02003518;AY358702;BC146817;BF439401;BF513499;BU674604;BX537607;BX647953;CF264801;CH471053;NM_001002257;NM_182551;XM_005264244;XM_005264245;XM_006711981 AAI46818;AAQ89065;BAC04522;BAG59509;BAG59738;BAG63827;EAX00495;NP_001002257;NP_872357;Q6UWP7;XP_005264301;XP_005264302;XP_006712044 Hs.468048;Hs.662770 1717077;1753031;1848421;1925930;2155394;2160736;2218852;5117897 GDB:631813;REN33791;RH121455;RH69977;SHGC-60157;SHGC-79100;UNQ1849__5010;WIAF-2200 1-AGPAT 8;1AGPAT8;AGPAT8;ALCAT1;FLJ37965;HSRG1849;UNQ1849 1-AGP acyltransferase 8;1-acylglycerol-3-phosphate O-acyltransferase 8;LYCAT;OTTHUMP00000125173;OTTHUMP00000125174;OTTHUMP00000214133;acyl-CoA:lysocardiolipin acyltransferase 1 protein-coding ENSG00000172954 HGNC:26756 17458 614241 VALIDATED 1351587 LCMT1 leucine carboxyl methyltransferase 1 LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM, Mar 2008] 16 16 16 p12.1 23903957 23969431 + 25123047 25189551 + 25111726 25178230 + 1580863;6480464;6907045;8554872 10600115;10810093;12477932;14702039;15489334;16189514;17207965;17724024;21206058;21292165;21900206;21906983;22443683;22732552;22990118;23943618;24816145;25027693;8125298 51451 H3BUP7;H7BYF0;I3L2E3;I3L2Q8;I3L4A2;I3L537;Q9UIC8 ABBA01017114;ABBA01017115;ABBA01017116;ABBA01017117;ABBA01017118;AC008741;AC133552;AF037601;AF151826;AK025884;AK223364;AK225271;AK291885;AK314409;AL137283;AL560574;AMYH02031739;BC001214;BC014217;BF058787;BI459868;CH471145;NM_001032391;NM_016309;XM_005255354;XM_006721050 AAD34063;AAF18267;AAH01214;AAH14217;ADQ32744;BAB15270;BAD97084;BAF84574;BAG37031;CAB70677;EAW55771;EAW55772;EAW55773;EAW55774;NP_001027563;NP_057393;Q9UIC8;XP_005255411;XP_006721113 Hs.337730 1655883;1686981;1713059;1852653 RH120317;RH64916;RH68799;RH70074 CGI-68;LCMT;PPMT1 [Phosphatase 2A protein]-leucine-carboxy methyltransferase 1;protein phosphatase methyltransferase 1;protein-leucine O-methyltransferase APPROVED protein-coding ENSG00000205629 HGNC:17557 17266 610286 VALIDATED 8698723 LCMT1-AS1 LCMT1 antisense RNA 1 16 p12.1 25100549 25111554 - 16341674 102723510 ABBA01017114;AC133552;AL600125;AMYH02031738;AMYH02031739;BM790349;HG507867;HG507868;NR_120306;XR_424774;XR_429684;XR_433226 Hs.569596;Hs.637659 ncrna HGNC:51177 VALIDATED 8699235 LCMT1-AS2 LCMT1 antisense RNA 2 16 16 25151892 25160353 - 25140571 25149032 - 14702039 100506655 ABBA01017116;AC133552;AK002209;AK023796;AK056728;AMYH02031739;H57848;HG507869;NR_039998 Hs.657576 ncrna ENSG00000260034 HGNC:51178 VALIDATED 1314097 LCMT2 leucine carboxyl methyltransferase 2 The protein encoded by this intronless gene belongs to the highly variable methyltransferase superfamily. This gene is the inferred homolog of the Saccharomyces cerevisiae carboxymethyltransferase gene PPM2 that is essential for the synthesis of the hypermodified guanosine Wybutosine (yW). [provided by RefSeq, Jul 2008] 15 15 15 q15.3 20390821 20393738 - 43619974 43622820 - 43327776 43330622 - 6480464;6907045 10600115;12477932;12485877;12853982;15489334;15813917;16344560;16642040;16830365;17026958;17568008;19287006;21139048;21906983;21963094;21987572;22253232;22505724;24816145;9628581 9836 B4DUW3;H3BU01;O60294 ABBA01038350;AC009852;AF265443;AK292587;AK300820;AMYH02030303;AW505587;BC015949;DB260484;DQ102852;NM_014793 AAF75774;AAH15949;AAY88744;BAF85276;BAG62475;NP_055608;O60294 Hs.200596;Hs.533913;Hs.745356 2156899 STS-H54034 FLJ51321;KIAA0547;MGC9534;PPM2;TYW4 OTTHUMP00000161298;p21WAF1/CIP1 promoter-interacting protein;tRNA wybutosine-synthesizing protein 4;tRNA wybutosine-synthesizing protein 4 homolog;tRNA yW-synthesizing protein 4;tRNA yW-synthesizing protein 4 homolog;tRNA(Phe) (7-(3-amino-3-(methoxycarbonyl)propyl)wyosine(37)-N)-methoxycarbonyltransferase;tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine(37)-O)-methyltransferase;tRNA-Wybutosine-synthesizing protein 4;tRNA-yW synthesizing protein 4 APPROVED protein-coding HGNC:17558 17267 611246 REVIEWED 1344178 LCN1 lipocalin 1 This gene encodes a member of the lipocalin family of small secretory proteins. Lipocalins are extracellular transport proteins that bind to a variety of hydrophobic ligands. The encoded protein is the primary lipid binding protein in tears and is overproduced in response to multiple stimuli including infection and stress. The encoded protein may be a marker for chromosome aneuploidy as well as an autoantigen in Sjogren's syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and two pseudogenes of this gene are also located on the long arm of chromosome 9. [provided by RefSeq, Nov 2011] 9 9 9 q34 108930399 108935455 + 138413284 138418386 + 135521438 135526540 + 1580863;6480464 10558865;11287427;11727836;11850445;12477932;12591932;12613960;12613961;12613963;1400345;15461462;15489334;15489503;15851553;16249071;17353931;17869594;17945179;18334931;19586017;19770509;20360068;21139048;21324447;21466861;21791187;24550385;7606920;7679926;8112601;8276406;8500570;8898072;8999869;9759656 3933 P31025 ABBA01030037;AL161452;AMYH02021871;BC065721;BC074925;BC074926;CD721968;CH471090;CK429694;CK430667;CK431106;L14927;M90424;NM_001252617;NM_001252618;NM_001252619;NM_002297;X62418;X67647 AAA18633;AAA61845;AAH65721;AAH74925;AAH74926;CAA44284;CAA47889;EAW88156;EAW88157;NP_001239546;NP_001239547;NP_001239548;NP_002288;P31025 Hs.530311 5017155 RH66542 MGC71975;PMFA;TLC;TP;VEGP OTTHUMP00000022539;OTTHUMP00000022540;VEG protein;Von Ebner gland protein;lipocalin 1 (tear prealbumin);lipocalin 1-like 2;lipocalin-1;protein migrating faster than albumin;tear lipocalin;tear prealbumin APPROVED protein-coding ENSG00000160349 HGNC:6525 01059 151675 REVIEWED 1347368 LCN10 lipocalin 10 Members of the lipocalin family, such as LCN10, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] 9 9 9 q34.3 110145737 110150529 - 139632619 139637411 - 136738167 136742959 - 1580863;6480464 12477932;14702039;15363845 414332 E9PK15;E9PQQ7;E9PRR3;H0YCM3;Q6JVE6 ABBA01022719;AK091788;AL355987;AL832485;AMYH02021909;AY301271;BC036875;BC040963;BC046377;BC064596;BC133045;BC144440;BC144441;BC171741;NM_001001712 AAI33046;AAI44442;AAQ81976;NP_001001712;Q6JVE6 Hs.98132 1683040 RH98407 OTTHUMP00000197345;OTTHUMP00000197346;OTTHUMP00000229789;epididymal-specific lipocalin-10 APPROVED protein-coding HGNC:20892 13977 612904 VALIDATED 1350830 LCN12 lipocalin 12 Members of the lipocalin family, such as LCN12, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] 9 9 9 q34.3 110361011 110364149 + 139844032 139849957 + 136949580 136955497 + 6480464 12477932;15363845;23291589 286256 Q5SQ16;Q6JVE5;Q8IW14;R4GN38 ABBA01022733;AI681012;AL807752;AMYH02021914;AY301272;BC031600;BC041168;BX281250;CH471090;NM_178536;XM_005266068;XM_005266069;XM_005266070;XM_006717065;XM_006717066;XR_245331;XR_428526;XR_428527 AAH41168;AAQ81977;EAW88317;EAW88318;EAW88319;EAW88320;NP_848631;Q6JVE5;XP_005266125;XP_005266126;XP_005266127;XP_006717128;XP_006717129 Hs.440519 1758253 SHGC-147801 MGC34753;MGC48935 OTTHUMP00000165093;epididymal-specific lipocalin-12;lipocalcin 12 APPROVED protein-coding ENSG00000184925 HGNC:28733 13978 612905 VALIDATED 1603824 LCN15 lipocalin 15 ENCODES a protein that exhibits small molecule binding (inferred); transporter activity (inferred); INVOLVED IN lipid metabolic process (inferred); transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH aflatoxin B1; ampicillin; benzo[a]pyrene 9 9 9 q34.3 110167242 110172130 - 139654086 139658965 - 136759634 136766255 - 6480464;8554872 12477932;12975309 389812 Q49AN5;Q6UWW0 ABBA01022719;AL355987;AMYH02021909;AY358618;BC035124;BC093893;BC093895;NM_203347;XM_006717105 AAH35124;AAH93893;AAH93895;AAQ88981;NP_976222;Q6UWW0;XP_006717168 Hs.413902 5015619;5127085 D11S3114;D7S1473 PRO6093;RP11-216L13.5;UNQ2541 MSFL2541;OTTHUMP00000162517;lipocalin-15 protein-coding ENSG00000177984 HGNC:33777 15614 PROVISIONAL 1354328 LCN1P1 lipocalin 1 pseudogene 1 FOUND IN extracellular space; INTERACTS WITH ammonium chloride (ortholog); cadmium dichloride (ortholog) 9 9 9 q34.2 106641652 106645393 - 136100292 136104038 - 133224905 133228651 - 6480464 286310 Q5VSP4 ABBA01032468;AL732364;AL772161;AMYH02021824;NG_022883;Y10826 Q5VSP4 LCN1L1;bA430N14.2 APPROVED pseudo HGNC:23412 INFERRED 2307456 LCN1P2 lipocalin 1 pseudogene 2 9 9 q34.2 106734944 106735810 + 136184440 136185304 + 20147318;20167578 653163 AL158826;AL772161;NG_009693 LCN1L2;bA244N20.11 APPROVED pseudo HGNC:23680 INFERRED 69453 LCN2 lipocalin 2 ENCODES a protein that exhibits iron ion binding (ortholog); INVOLVED IN innate immune response (ortholog); siderophore transport (ortholog); ASSOCIATED WITH Diabetic Nephropathies; Glomerulonephritis, IGA; Hydronephrosis; FOUND IN extracellular space; extracellular vesicular exosome; extracellular region (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3,4-dichloroaniline 9 9 9 q34 101562624 101566626 + 130911732 130915734 + 128149453 128153455 + 1580863;2316514;2316490;2316515;6480464;7245500;7245489;7245497;7244373;7245503;7245951;7245960;7245471;7244371;7244370;7245484;7245983;7245985;7245469;2316492 15623795;18292240;20043115;20057160;21279810;21467131;22015481;22342673;22542304;22923545;22997966;23085062;23085980;23335628;23364806;23547217;23673972;23683031 10339412;10475571;10529240;10684642;10737800;10777108;11486081;11986950;12473066;12477932;1281792;15084671;15342556;15489334;15637066;15670845;15691834;15711640;16060857;16061852;16146540;16254208;16335952;16374475;16381001;16502470;16671099;16733850;16740002;16798734;16827865;17114340;17229907;17253959;17294443;17360238;17530720;17554627;17570904;17721627;17847728;17874137;17901710;17907186;17949711;18001501;18029348;18064607;18070344;18275504;18287807;18317594;18337554;18362300;18375251;18392050;18393169;18398717;18437016;18464118;18600028;18663364;18676832;18710473;18753796;18768801;18798264;18803290;18809975;18852336;18927283;19015448;19055468;19056867;19092815;19148153;19148711;19176795;19201208;19237579;19249501;19249502;19287180;19308044;19321980;19342674;19419554;19454345;19466389;19474273;19540040;19549696;19638718;19649660;19661117;19680166;19708926;19714584;19727808;19732769;19850388;19857721;19863663;19875582;19887608;19889214;19904630;19938135;19951994;20030526;20056755;20068352;20072790;20086155;20101218;20123318;20179686;20208456;20306447;20363104;20373132;20412947;20435938;20496473;20502037;20504246;20504881;20511727;20512104;20527084;20551266;20559153;20587610;20596614;20620526;20628624;20680102;20703446;20802417;20819195;20853162;20870707;20921623;20960272;20961744;21030534;21031541;21048034;21104585;21115620;21132267;21133718;21143924;21150136;21160226;21184133;21257679;21273640;21278918;21300375;21307379;21334721;21403867;21412214;21420718;21439274;21442621;21457438;21463871;21511111;21518160;21545264;21555394;21573795;21576334;21612443;21622717;21649922;21691251;21723753;21726963;21740336;21741997;21756081;21756891;21763306;21836143;21836147;21855366;21872946;21874256;21885675;21947917;21978028;21986252;22035911;22123561;22164937;22169111;22172816;22200895;22200942;22222228;22222353;22226205;22237710;22251225;22291019;22292925;22325322;22340728;22371224;22371904;22404749;22441986;22469622;22500106;22505707;22515481;22529161;22537138;22559235;22562534;22640376;22695331;22705926;22707293;22710694;22723447;22728279;22749388;22767506;22800509;22811364;22820397;22835414;22851691;22876548;22876549;22928018;22932106;22950345;22965758;22976261;22982376;23020231;23056218;23056397;23100449;23128339;23146921;23150684;23150981;23167703;23179203;23207546;23242471;23318563;23327592;23332549;23343559;23344473;23349979;23376114;23389669;23391290;23396290;23403985;23406465;23426707;23439619;23554037;23568978;23580616;23627612;23633156;23668802;23668886;23684135;23696034;23712081;23726574;23735150;23736029;23754672;23775308;23799122;23799980;23825078;23838135;23838697;23863624;23936859;23940770;23964619;23972287;23988549;24009223;24022330;24052978;24054338;24118080;24133923;24149112;24182633;24199457;24239146;24240113;24262504;24295734;24305547;24308223;24316309;24321290;24325180;24359145;24375576;24383284;24384771;24391115;24475761;24518829;24651681;24821156;24851612;24916903;24937428;25029806;7554268;7683678;7829063;7835423;7997842;8060329;8195592;8633182;8889548;9339356;9842963 3934 P80188;X6R8F3 ABBA01043868;AK301694;AK316217;AL590708;AMYH02021708;AW778875;BC033089;BF354583;BM977724;BP272828;BX644845;CA454137;CH471090;CR542092;EU644752;N79823;NM_005564;S75256;X83006;X99133 AAD14168;AAH33089;ACD02429;BAG63166;BAH14588;CAA58127;CAA67574;CAG46889;EAW87748;EAW87749;EAW87750;NP_005555;P80188 Hs.204238 1686450;1792524;2150496 PMC152639P4;RH93784;STS-X99133 24p3;MSFI;NGAL;p25 25 kDa alpha-2-microglobulin-related subunit of MMP-9;OTTHUMP00000022238;OTTHUMP00000022239;OTTHUMP00000022240;lipocalin-2;migration-stimulating factor inhibitor;neutrophil gelatinase-associated lipocalin;oncogene 24p3;siderocalin;siderocalin LCN2 protein-coding ENSG00000148346 HGNC:6526 02551 600181 VALIDATED 1342771 LCN5 lipocalin 5 353176 AF082221 HGNC:17559 1349815 LCN6 lipocalin 6 INVOLVED IN single fertilization (inferred); FOUND IN extracellular region (inferred) 9 9 9 q34.3 110151587 110156098 - 139638469 139642980 - 136744017 136748528 - 12477932;12975309;14617364;14702039;15363845;15489334 158062 K7ERN5;P62502 ABBA01022719;AF303084;AL355987;AMYH02021909;AY301269;AY358598;BC040937;BC062746;CH471090;NM_198946 AAH62746;AAQ14494;AAQ81974;AAQ88961;ADR82687;EAW88259;EAW88260;NP_945184;P62502 Hs.522504 LCN5;UNQ643;hLcn5 OTTHUMP00000197341;OTTHUMP00000197342;epididymal-specific lipocalin LCN6;epididymal-specific lipocalin-6;lipocalin 5;lipocalin-5 protein-coding ENSG00000267206 HGNC:17337 17268 609379 VALIDATED 1343207 LCN8 lipocalin 8 Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] 9 9 9 q34.3 110161959 110165851 - 139648838 139652995 - 136754388 136758279 - 6480464 12477932;14702039;15164053;15363845 138307 Q6JVE9;Q6ZT51 ABBA01022719;AK090647;AK124003;AK126902;AL355987;AMYH02021909;AY301268;BC024235;BC042109;BC128381;BC130465;BC132714;CH471090;NM_178469;XM_005266058;XM_006716953 AAI30466;AAI32715;AAQ81973;ADR83321;BAC03496;BAC86743;EAW88264;EAW88265;NP_848564;Q6JVE9;XP_005266115;XP_006717016 Hs.323991 5113173 RH98389 EP17;LCN5 OTTHUMP00000022602;epididymal-specific lipocalin-8;lipocalin 5 APPROVED protein-coding ENSG00000204001 HGNC:27038 18549 612902 PROVISIONAL 1345733 LCN9 lipocalin 9 Members of the lipocalin family, such as LCN9, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] 9 9 9 q34.3 109072999 109075781 + 138555168 138562577 + 135663322 135677782 + 1580863;6480464 15164053;15363845 392399 Q8WX39;V9HWI8 ABBA01030041;AL158822;AMYH02021878;AY301270;CH471090;EU794679;NM_001001676;XM_006717106 AAI46406;AAI48848;AAQ81975;ACJ13733;EAW88172;EAW88173;NP_001001676;Q8WX39;XP_006717169 Hs.532679 5019211 RH104568 9230102I19Rik;HEL129 MUP-like lipocalin;OTTHUMP00000244575;epididymal-specific lipocalin-9;epididymis luminal protein 129 APPROVED protein-coding ENSG00000148386 HGNC:17442 13979 612903 PROVISIONAL 1601788 LCNL1 lipocalin-like 1 9 9 9 q34.3 110389580 110392345 + 139877445 139880210 + 136982993 136985758 + 12477932 401562 F2Z3E7;Q6ZST4 ABBA01022734;AK127160;AK127236;AL807752;AMYH02021915;BC062468;BC137559;BC137567;NM_207510 AAI37560;AAI37568;BAC86862;BAC86897;NP_997393;Q6ZST4 Hs.695210 1336264;2116388 D9S905;STS-M98539 FLJ45224 OTTHUMP00000215782;lipocalin-like 1 protein protein-coding ENSG00000214402 HGNC:34436 16983 VALIDATED 1344018 LCO liver cancer oncogene 2846240;3014525 3935 HGNC:6527 1603601 LCOR ligand dependent nuclear receptor corepressor LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008] 10 10 10 q24 92333590 92465797 + 98592017 98724198 + 96832260 96964441 + 6480464 11347906;12477932;12535528;12560079;12700765;14702039;15164054;15193453;15489334;16344560;17207965;19744931;19744932;20211142;20379614;21565892;21856747;22277651;23502783;24722188 84458 Q96JN0 AB058698;AB072899;ABBA01021820;ABBA01021821;ABBA01021822;ABBA01021823;AK023248;AK095345;AL162502;AL442123;AL832044;AL832106;AL834245;AMYH02023600;AMYH02023601;BC053359;BC128542;CH471066;DA507116;DA788606;NM_001170765;NM_001170766;NM_032440;XM_006718033;XM_006718034 AAH53359;AAI28543;ADQ32582;BAB47424;CAD38921;CAD91159;CAD91160;EAW49962;EAW49963;EAW49964;EAW49965;EAW49966;NP_001164236;NP_001164237;NP_115816;Q96JN0;XP_006718096;XP_006718097 Hs.745068 1653200;1655383;1699760;1700788;1704782;1725883;1788468;2133347;2153177;2184655;2219932;5019827;5093690 A009V05;A009Z04;AI396692;D10S2269;G32866;G33004;G62415;MLR2__6322;RH103486;RH104019;RH44777;SHGC-79857;WI-15944 FLJ38026;KIAA1795;MLR2;RP11-175O19.1 OTTHUMP00000020179;OTTHUMP00000020180;OTTHUMP00000020181;ligand-dependent corepressor;mblk1-related protein 2 APPROVED protein-coding ENSG00000196233 HGNC:29503 07609 607698 VALIDATED 1604965 LCORL ligand dependent nuclear receptor corepressor-like This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 p15.31 18309820 18488472 - 17844839 18023483 - 17843216 18021860 - 6480464;8554872 12477932;12560079;14702039;16344560;17207965;18391951;18391952;19266077;19343178;20189936;20379614;20397748;20546612;20881960;21900206;21906983;21998595;22021425;23202124;23563607;24025145;24722188;8889548 254251 B4DSW0;C9JI46;D6RA10;Q8N3X6 AA625769;ABBA01032617;AC005768;AC079399;AI671443;AK054796;AK055258;AK096181;AK299939;AL133031;AMYH02008827;AMYH02008828;AMYH02008829;BC037322;BC062661;BE254250;BM721547;BX107807;BX354708;CH471069;DA408372;NG_015822;NM_001166139;NM_153686 AAH37322;ADQ32482;BAB70892;BAG61772;EAW92786;EAW92787;EAW92788;EAW92789;NP_001159611;NP_710153;Q8N3X6 Hs.446201;Hs.677572 1666861;1673858;1698918;1846970;2120891;2156770;2180285;5093308 A009L13;D4S327;G32642;RH103028;RH47077;SHGC-51641;SHGC-67761;STS-R67597 FLJ30696;MLR1 LCOR-like protein;MBLK1-related protein;OTTHUMP00000158672;OTTHUMP00000158673;ligand-dependent nuclear receptor corepressor-like protein;transcription factor MLR1 APPROVED protein-coding ENSG00000178177 HGNC:30776 10088 611799 REVIEWED 1317977 LCP1 lymphocyte cytosolic protein 1 (L-plastin) Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008] 13 13 13 q14.3 27755067 27811461 - 46700058 46756459 - 46125923 46182324 - 1580863;6480464;8554872 10446213;10668786;10737800;10903868;11279160;11591653;12119179;12477932;12963694;14702039;14756805;1491005;15489334;15592455;16115810;16193335;16287074;16344560;16502470;16636079;17290393;17294403;17370265;17676665;18029348;19056867;19142861;19738201;19795399;19799649;20169155;20183869;20683899;20878578;21098731;2111166;21139048;21525390;21805466;21890473;21906983;22118674;22505724;2252891;22581862;22586326;22939629;23001012;23213074;23479363;2378651;24009233;24236012;24438191;24816145;25015289;3211125;3261603;3864729;7806577;8125298;8139549;8428952;8428953;8663066;9923600 3936 P13796;Q5TBN3;Q5TBN5 AB208984;ABBA01050983;AK058152;AK097275;AK129625;AK223305;AK300556;AK309009;AK312393;AL137141;AMYH02027984;AMYH02027985;AY960627;BC007673;BC010271;BC015001;BC053839;BF893502;CH471075;CR936795;DA820090;DB156931;EU794648;J02923;M22300;M34426;NM_002298;S54531;XM_005266374 AAA36184;AAA63236;AAB02845;AAH07673;AAH10271;ABM83861;ABM87183;ACJ13702;BAD92221;BAD97025;BAG35310;BAG53443;BAG62262;EAX08757;EAX08758;NP_002289;P13796;XP_005266431 Hs.381099;Hs.658408 1664008;1851704;2111532;2125081;2154156 D10S2284;D13S1503;RH17581;STS-D19729;WI-17631 CP64;DKFZp781A23186;FLJ25423;FLJ26114;FLJ39956;HEL-S-37;LC64P;LCP-1;LPL;PLS2 L-PLASTIN;L-plastin (Lymphocyte cytosolic protein 1) (LCP-1) (LC64P);Lymphocyte cytosolic protein-1 (plasmin);OTTHUMP00000018362;bA139H14.1 (lymphocyte cytosolic protein 1 (L-plastin));epididymis secretory protein Li 37;plastin 2;plastin-2 APPROVED protein-coding ENSG00000136167 HGNC:6528 01082 153430 REVIEWED 732713 LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) SLP-76 was originally identified as a substrate of the ZAP-70 protein tyrosine kinase following T cell receptor (TCR) ligation in the leukemic T cell line Jurkat. The SLP-76 locus has been localized to human chromosome 5q33 and the gene structure has been partially characterized in mice. The human and murine cDNAs both encode 533 amino acid proteins that are 72% identical and comprised of three modular domains. The NH2-terminus contains an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation. SLP-76 also contains a central proline-rich domain and a COOH-terminal SH2 domain. A number of additional proteins have been identified that associate with SLP-76 both constitutively and inducibly following receptor ligation, supporting the notion that SLP-76 functions as an adaptor or scaffold protein. Studies using SLP-76 deficient T cell lines or mice have provided strong evidence that SLP-76 plays a positive role in promoting T cell development and activation as well as mast cell and platelet function. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 165707014 165756761 - 169675088 169724822 - 170248084 170297818 - 1580863;6480464;6907045 10021361;10026222;10204582;10224278;10229072;10469124;10477741;10497204;10556826;10562326;10636929;10660534;10747096;10790433;10820259;10993915;11048639;11301322;11314042;11331248;11390650;11487585;11607830;12029088;12084069;12176364;12190313;12477932;12496419;12496421;12640123;12773374;12817019;12847255;14662865;14702039;14722089;14757747;15144186;15388330;15489334;15558067;15588985;15623534;15668918;15699071;15708849;16094384;16354835;16356554;16439309;16467851;16914752;17148460;17235283;17237383;17420479;17652306;18187620;18549800;18564921;19380743;19635790;19667077;19710135;19812192;20079431;20457812;20534575;20562827;20842205;20890395;20936779;21282515;21469089;21725281;21832049;21887278;21900206;21949020;21988832;22267732;22323535;22534133;22786724;22802418;22806433;22844345;22902619;23071622;23227982;23293025;23514740;23901140;23935094;23979596;24816145;7565724;7706237;8661136;8666952;8695800;8702662;8703037;8760799;8995445;9047237;9115214;9207119;9341187;9489702;9697839;9716598;9765283;9846482 3937 E5RKA2;E7ESF6;Q13094 ABBA01044098;ABBA01044099;ABBA01044100;ABBA01044101;AC034199;AK122637;AK292890;AK296098;AK300000;AK310369;AMYH02012715;AMYH02012716;AMYH02012717;AMYH02012718;BC016618;BG911397;BT007273;CH471062;FN432830;NM_005565;U20158;U44065 AAA93308;AAC50135;AAH16618;AAP35937;ABM81607;ABM84789;BAF85579;BAG58851;BAG61819;CBA11531;EAW61478;EAW61479;EAW61480;NP_005556;Q13094 Hs.304475 1646814;1654229;1719013;1772841;2150203;2180874;5491790 G58254;LCP2;RH70367;RH70635;RH79005;SGC35415;STS-T25868 SLP-76;SLP76 76 kDa tyrosine phosphoprotein;OTTHUMP00000223178;OTTHUMP00000223180;SH2 domain-containing leukocyte protein of 76 kDa;SH2 domain-containing leukocyte protein of 76kD;SLP-76 tyrosine phosphoprotein;lymphocyte cytosolic protein 2;lymphocyte cytosolic protein 2 (sh2 domain-containing leukocyte protein of 76kd) APPROVED protein-coding HGNC:6529 03362 601603 REVIEWED 1349602 LCS1 lymphedema-cholestasis syndrome 1 ASSOCIATED WITH Aagenaes syndrome (inferred) 7240710 10968776 84565 1336732;1340735 D15S652;D15S979 HGNC:15737 214900 1344800 LCT lactase The protein encoded by this gene belongs to the family 1 of glycosyl hydrolases. The protein is integral to plasma membrane and has both phlorizin hydrolase activity and lactase activity. [provided by RefSeq, Jul 2008] 2 2 2 q21 130256175 130305504 - 136545415 136594750 - 135787845 135837180 - 1600240;1580863;6480464;6907045;7240710;8554872;8699517 17218984 10677375;11751874;11788828;12011060;12459179;12692047;12795467;12915462;14753735;15054412;15106124;15107297;15178553;15365657;15479673;15667380;15716664;15831909;16024930;16109658;16301215;16391332;16400612;16876487;17015546;17020404;17120047;17143950;17159977;17311063;17327935;17451204;17478481;17507622;17574225;17651714;17701907;17706627;17911653;17934640;18030226;18042517;18080747;18179885;18194137;18237552;18275674;18396155;18454942;18468259;18544679;18568133;18605960;18704543;18940163;18974842;18980667;19010095;1902057;19034520;19039706;19138442;19156157;19161632;19168163;19174780;19299182;19370782;19422935;19453261;19799794;19844753;19889824;19913121;19947896;19955176;20015952;20190720;20225268;20362522;20390408;20430969;20509822;20585563;20587610;20616560;20628086;20960210;21125297;21136048;21193851;21327791;21340236;21365615;21686221;21763294;21829377;21836184;22278929;22937140;22948027;22965418;22989008;23029545;23030683;23211657;23252911;23256641;23327608;23415628;23647908;23913618;23985982;23993196;2460343;7487100;7523415;8257087 3938 H0Y4E4;P09848 ABBA01028160;ABBA01028161;ABBA01028162;ABBA01028163;AC011893;AMYH02004854;AMYH02004855;AMYH02004856;CH471058;M61834;M61839;M61840;M61841;M61850;NG_008104;NM_002299;X07994 AAA59504;AAI56076;AAI56951;AAX88924;CAA30801;EAX11622;NP_002290;P09848 Hs.551506 2106535;2128887;2133704;2181147;2182904 AFMa338ye5;D2S2819;LCT__6380;RH70816;STS-X07994 LAC;LPH;LPH1 OTTHUMP00000162531;lactase-glycosylceramidase;lactase-phlorizin hydrolase;lactase-phlorizin hydrolase-1 APPROVED protein-coding ENSG00000115850 HGNC:6530 04437 223000;603202 REVIEWED 1602287 LCTL lactase-like This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which are required for enzymatic activity. The mouse ortholog of this protein has been characterized and has a domain structure of an N-terminal signal peptide, glycosidase domain, transmembrane domain, and a short cytoplasmic tail. It lacks one of the conserved glutamic acid residues important for catalysis, and its function remains to be determined (PMID: 12084582). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 15 15 15 q22.31 43728610 43745941 - 66839806 66858317 - 66547468 66565979 - 6480464 12084582;12975309;14702039;15340161;22020932;9779294 197021 H3BQI3;Q6UWM7 ABBA01038815;AC116913;AK090598;AK311441;AMYH02030650;AMYH02030651;AY358729;CH471082;EB361548;NM_001278562;NM_207338;NR_103739;XM_006720430 AAI48355;AAI52991;AAQ89091;BAG52192;EAW77781;NP_001265491;NP_997221;Q6UWM7;XP_006720493 Hs.680983 1778007 RH15756 FLJ33279;KLG;KLPH KL lactase phlorizin hydrolase;OTTHUMP00000164269;klotho gamma;klotho/lactase-phlorizin hydrolase-related protein;lactase-like protein protein-coding ENSG00000188501 HGNC:15583 13930 REVIEWED 1321219 LDB1 LIM domain binding 1 ENCODES a protein that exhibits enzyme binding; LIM domain binding; RNA polymerase II activating transcription factor binding; INVOLVED IN negative regulation of transcription, DNA-templated; positive regulation of transcription from RNA polymerase II promoter; histone H3-K4 acetylation (ortholog); FOUND IN nuclear chromatin; transcription factor complex; nucleus (ortholog); INTERACTS WITH 17beta-estradiol; aflatoxin B1; ethyl methanesulfonate 10 10 10 q24-q25 97608243 97621137 - 103866315 103880210 - 102106558 102120453 - 6480464 10083735;10640831;10767331;10866689;11751867;11882901;12153047;12239153;12381786;12477932;12642495;12727888;12792813;12874135;12925972;14743429;15164054;15231748;15489334;16189514;16314316;16385451;16407974;16713569;16815859;17437998;17910069;18583962;19117995;19497860;20211142;20423330;20447379;20603019;21139048;21988832;22010104;23000965;23812588;9209374;9214632;9315627;9391090;9452425;9503020;9736723;9799849;9872335 8861 Q86U70 AB016485;AB250384;ABBA01063171;AF064491;AF068652;AJ243098;AK300588;AK308481;AL500527;AMYH02023688;BC000482;BC009246;BT007054;CH471066;CV575131;NM_001113407;NM_003893;XM_005270262 AAC28341;AAC77818;AAH00482;AAH09246;AAP35703;ABM81698;ABM84859;BAA31991;BAE95402;BAG62286;CAB45409;EAW49722;EAW49723;EAW49724;NP_001106878;NP_003884;Q86U70;XP_005270319 Hs.454418 1797814;2191563 LDB1_2220;MARC_26540-26541:1033662278:1 CLIM-2;CLIM2;LDB-1;NLI;hLdb1 LIM domain-binding factor CLIM2;LIM domain-binding factor-1;LIM domain-binding protein 1;OTTHUMP00000020360;carboxy terminal LIM domain protein 2;carboxyl-terminal LIM domain-binding protein 2;nuclear LIM interactor protein-coding ENSG00000198728 HGNC:6532 09144 603451 VALIDATED 1317395 LDB2 LIM domain binding 2 Genes encoding LIM domain-binding factors were initially isolated in a screen for proteins that physically interact with the LIM domains of nuclear proteins (summarized by Semina et al., 1998 [PubMed 9799849]). These proteins, such as the one encoded by the LDB2 gene, are capable of binding to a variety of transcription factors and are likely to function at enhancers to bring together diverse transcription factors and form higher order activation complexes or to block formation of such complexes (Jurata and Gill, 1997 [PubMed 9315627]). The family of genes encoding LIM domain-binding factors includes 2 members isolated from the mouse, Clim1 (Bach et al., 1997 [PubMed 9192866]) and Clim2/Lbd1/Nli (Agulnick et al., 1996 [PubMed 8918878]; Jurata et al., 1996 [PubMed 8876198]; Bach et al., 1997 [PubMed 9192866]) and their homologs cloned from the frog, chicken, and fly. The fact that LIM domain-binding factors are likely to be involved in the coordination of the transcriptional activity of many diverse factors might implicate them in human phenotypes characterized by multiple affected sites.[supplied by OMIM, Jul 2010] 4 4 4 p16 16968377 17365469 - 16503164 16900424 - 16501541 16898801 - 1580863;6480464;8554872 10083735;10431247;10861853;12477932;14702039;15231748;15489334;16344560;18330356;19997623;20211142;20379614;23000965;23534349;23585552;8125298;8876198;8918878;9192866;9315627;9799849;9853615;9880598 9079 B7Z2D3;D6RAT1;E7EX95;E9PFI4;E9PGU0;G5E9Y7;H0YA09;O43679 ABBA01032585;ABBA01032586;ABBA01032587;ABBA01032588;ABBA01032589;ABBA01032590;ABBA01032591;ABBA01032592;AC005690;AC097515;AC104656;AC105353;AC106894;AF047337;AF052389;AF064492;AF064493;AF068651;AK095238;AK226029;AK294588;AK300119;AK312881;AMYH02008810;AMYH02008811;AMYH02008812;AMYH02008813;AMYH02008814;AMYH02008815;BC034019;BG704168;CH471069;DA166898;NM_001130834;NM_001290;XM_005248197;XM_005248198;XM_005248201;XM_005248202;XM_005248203;XM_005248205;XM_006713975;XM_006713976;XM_006713977;XM_006713978;XM_006713979;XM_006713980;XM_006713981;XM_006713982;XM_006713983;XM_006713984 AAC13274;AAC28342;AAC28343;AAC77817;AAC83552;AAH34019;AAY40912;ABM82907;ABM86097;BAH11819;BAH13216;EAW92765;EAW92766;EAW92767;NP_001124306;NP_001281;O43679;XP_005248254;XP_005248255;XP_005248258;XP_005248259;XP_005248260;XP_005248262;XP_006714038;XP_006714039;XP_006714040;XP_006714041;XP_006714042;XP_006714043;XP_006714044;XP_006714045;XP_006714046;XP_006714047 Hs.714330 1341098;1664952;1668551;1716875;1719947;1731445;1766487;1772300;1774853;1785120;1785170;1797816;2113762;2118236;2137194;2171398;2181387;2186353;5023099 AB046090;D4S1525;D4S2642;D4S590;D4S599;D4S731;G09887;G34137;GDB:3755021;LDB2;LDB2_2122;RH121731;RH123952;SHGC-149811;SHGC-155343;SHGC-156280;SHGC-50314;SHGC-59820;SHGC-67928 CLIM-1;CLIM1;LDB-2;LDB1 LIM binding domain 2;LIM domain-binding factor CLIM1;LIM domain-binding factor-2;LIM domain-binding protein 2;OTTHUMP00000158632;OTTHUMP00000217823;OTTHUMP00000217824;OTTHUMP00000217825;OTTHUMP00000217827;carboxyl-terminal LIM domain-binding protein 1 APPROVED protein-coding ENSG00000169744 HGNC:6533 16022 603450 VALIDATED 1351488 LDB3 LIM domain binding 3 This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010] 10 10 10 q22.3-q23.2 82430979 82498948 + 88426542 88495829 + 86666717 86736072 + 1580827;1581815;1580863;5131491;5131492;6480464;7240710;8554872;8699517 11696561;14660611;15380937;18491053 10391924;10427098;10727866;11076863;11842093;12477932;14662268;14702039;15174051;16344560;16385451;16476425;17394203;17987659;18513529;19377068;19472918;20066428;20201937;20301486;20301672;20474083;22349865;22929165;23271734;23996002;24668811;8681137;8823300;9734811 11155 O75112;V5T7C5 AA180065;AB014513;ABBA01033680;ABBA01033681;AC067750;AF086263;AF276807;AF276808;AF276809;AJ133766;AJ133767;AJ133768;AK093184;AK294696;AK297871;AK300692;AK304760;AL601484;AMYH02023481;AMYH02023482;BC010929;BC023609;CH471142;DA762127;DA898241;DC357269;EF179181;F33274;KF772970;NG_008876;NM_001080114;NM_001080115;NM_001080116;NM_001171610;NM_001171611;NM_007078;XM_005269464;XM_005269465;XM_005269466;XM_005269467;XM_005269468;XM_006717598;XM_006717599;XM_006717600;XM_006717601 AAH10929;AAI11458;AAQ14316;AAQ14317;AAQ14318;ABN05284;AHB60054;BAA31588;BAG57855;BAG60197;BAG62375;BAG65515;CAB46727;CAB46728;CAB46729;EAW80322;EAW80323;EAW80324;EAW80325;EAW80326;EAW80327;EAW80328;EAW80329;NP_001073583;NP_001073584;NP_001073585;NP_001165081;NP_001165082;NP_009009;O75112;XP_005269521;XP_005269522;XP_005269523;XP_005269524;XP_005269525;XP_006717661;XP_006717662;XP_006717663;XP_006717664 Hs.657271 1674830;1693474;1717261;1723503;1736002;1736032;1782084;2178213;5022578;5095315;5118576 D10S1290E;D10S1307E;D11S3430;D1S1423;LDB3;RH118568;RH122045;RH41795;RH48664;SHGC-154028;SHGC-57810 CMD1C;CMPD3;FLJ35865;KIAA01613;KIAA0613;LDB3Z1;LDB3Z4;LVNC3;MFM4;PDLIM6;ZASP CYPHER;LIM domain-binding protein 3;ORACLE;OTTHUMP00000020008;OTTHUMP00000020009;PDZ and LIM domain 6;Z-band alternatively spliced PDZ motif protein;Z-band alternatively spliced PDZ-motif protein;cardiomyopathy, dilated 1C (autosomal dominant) APPROVED protein-coding ENSG00000122367 HGNC:15710 16172 601493;605906;609452 REVIEWED 736025 LDHA lactate dehydrogenase A The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008] 11 11 11 p15.4 18550876 18564695 + 18415936 18429765 + 18394389 18408218 + 1600277;1600281;1300048;1580863;6480464;6484113;6907045;7240710;8554872;8699517 11085542;12438314 10508479;10897012;11125887;11276087;11487543;11582518;12107167;12145195;12160330;12477932;12555229;12629811;12712614;1297552;1445373;14702039;14760703;15161933;15231747;15240094;15489334;15592455;15635413;15710247;16009940;16027165;16132575;16196087;16263121;16344560;16766262;17178662;17220478;17483170;18039033;18160415;18521687;18534967;18781797;18814027;18821170;19021062;19135240;19276158;1953713;1959923;19668225;19738201;19838163;19847924;19923867;19946888;20385008;20639865;20677014;20828817;20849852;20877624;20946988;20951115;21044950;21081666;21124955;21139048;21145461;21249322;21252943;21319273;21452021;21632858;21726808;21853274;21858537;21890473;21906983;21963094;21969607;21987572;21988832;22053931;22079093;22127970;22268729;22304920;22360420;22429998;22505724;22536838;22593701;22623428;22863883;22897481;22923663;22939629;22948140;22961700;22990118;23000965;23025307;23125841;2315312;23166385;23184277;23266049;23318563;2334430;23349634;23404405;23467744;23516535;23583676;23722553;23797802;23859015;24250222;24332808;24337577;2434947;24401755;24457600;24679073;24714743;24744144;25015289;25027693;3000353;3838278;5014440;7273846;7908613;8125298;8327147 3939 F5GWW2;F5GXC7;F5GXH2;F5GXU1;F5GXY2;F5GYU2;F5GZQ4;F5H5J4;F5H6W8;F5H8H6;P00338;V9HWB9 ABBA01061057;AC084117;AK026515;AK130035;AK130105;AK130587;AK223078;AK296089;AK296667;AK298834;AK307477;AMYH02024395;AMYH02024396;AMYH02024397;AY423727;BC067223;BG424022;BG760757;BM995301;BU507758;CD243986;CH471064;CR456775;CR541714;DA609380;DB502157;DC392310;DC396757;EU794632;NG_008185;NM_001135239;NM_001165414;NM_001165415;NM_001165416;NM_005566;NR_028500;X02152;X03077 AAH67223;AAS00490;ACJ13686;BAC85389;BAD96798;BAG58843;BAG59264;BAH12879;CAA26088;CAA26879;CAG33056;CAG46515;EAW68395;EAW68396;EAW68397;NP_001128711;NP_001158886;NP_001158887;NP_001158888;NP_005557;P00338 Hs.2795 1658003;1690544;1742523;1742877;1849279 D11S4625;GDB:197849;GDB:212868;LDHA;RH93049 GSD11;HEL-S-133P;LDH-A;LDH-M;LDH1;LDHM;PIG19 L-lactate dehydrogenase A chain;LDH muscle subunit;OTTHUMP00000165205;OTTHUMP00000165206;OTTHUMP00000165207;OTTHUMP00000236636;OTTHUMP00000236642;OTTHUMP00000236646;OTTHUMP00000236647;cell proliferation-inducing gene 19 protein;epididymis secretory sperm binding protein Li 133P;lactate dehydrogenase M;proliferation-inducing gene 19;renal carcinoma antigen NY-REN-59 APPROVED protein-coding ENSG00000134333 HGNC:6535 01025 150000;612933 REVIEWED 1345599 LDHAL6A lactate dehydrogenase A-like 6A ENCODES a protein that exhibits L-lactate dehydrogenase activity (inferred); INVOLVED IN cellular carbohydrate metabolic process (inferred); oxidation-reduction process (inferred); PARTICIPATES IN cysteine and methionine metabolic pathway; gluconeogenesis pathway; glycolysis pathway; FOUND IN extracellular vesicular exosome 11 11 11 p15.1 18612987 18636752 + 18477374 18501814 + 18455827 18479600 + 737633;6907045 12477932 14702039;17500595;18351441;19322201;21139048;21565611;22505724;22939629 160287 Q6ZMR3;Q96L19 ABBA01061055;AC027544;AK131523;AMYH02024397;AX776047;AY581313;BC014340;CH471064;NM_001144071;NM_144972;XM_005252805;XM_006718158 AAH14340;AAS93432;BAD18662;CAE11711;EAW68387;EAW68388;NP_001137543;NP_659409;Q6ZMR3;XP_005252862;XP_006718221 Hs.668877 1673552;1716067;1777023 RH120997;RH47368;SHGC-34534 LDH6A;MGC23940 L-lactate dehydrogenase A-like 6A;OTTHUMP00000236659;OTTHUMP00000236660 protein-coding ENSG00000166800 HGNC:28335 13980 VALIDATED 1342929 LDHAL6B lactate dehydrogenase A-like 6B ENCODES a protein that exhibits L-lactate dehydrogenase activity (inferred); INVOLVED IN cellular carbohydrate metabolic process (inferred); oxidation-reduction process (inferred); PARTICIPATES IN cysteine and methionine metabolic pathway; gluconeogenesis pathway; glycolysis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4',5-pentachlorobiphenyl (ortholog) 15 15 15 q22.2 36386997 36388669 + 59499015 59500787 + 59206816 59208588 + 1580863;6480464;6907045;8554872 12107167;12477932;14702039;15489334;15870898;20800603;20877624;21853274;22863883;22939629;23455924 92483 Q9BYZ2 ABBA01038968;AC092756;AK058192;AMYH02030541;AY009108;AY642121;BC022034;CH471082;CS072266;DB511998;HC007068;HC044517;NG_031999;NM_033195 AAG49399;AAH22034;AAT65080;BAB71710;CAI93404;CBH19339;CBH30588;EAW77566;NP_149972;Q9BYZ2 Hs.307052 LDH6B;LDHAL6;LDHL L-lactate dehydrogenase A-like 6B;OTTHUMP00000163569;lactate dehydrogenase A -like;lactate dehydrogenase A-like 6 protein-coding ENSG00000171989 HGNC:21481 13981 VALIDATED 6782128 LDHAL6CP lactate dehydrogenase A-like 6C, pseudogene 12 12 12 q14.2 63065680 63067113 + 63397208 63398768 + 63003428 63004988 + 17903294;19679512 121498 ABBA01026625;AC078814;AMYH02026644;NG_021722 1676230;1736274 D12S1230E;RH92267 LDH6C pseudo HGNC:39423 INFERRED 6777894 LDHAL6DP lactate dehydrogenase A-like 6D, pseudogene 11 11 11 80835063 80836165 - 83525502 83526604 - 83814459 83815561 - 100420508 ABBA01017352;AMYH02025196;AP002370;NG_024390 pseudo HGNC:44239 INFERRED 6777895 LDHAL6EP lactate dehydrogenase A-like 6E, pseudogene 4 4 4 69656683 69660157 - 72300125 72303599 - 71434408 71437882 - 100420462 ABBA01022966;AC079230;AMYH02009440;NG_025129 pseudo HGNC:44241 INFERRED 6777896 LDHAL6FP lactate dehydrogenase A-like 6F, pseudogene 6 6 6 158359166 158360540 - 157719659 157721283 - 157298627 157300251 - 100420477 ABBA01021121;AL607068;AMYH02014826;NG_025884 pseudo HGNC:44240 INFERRED 1354252 LDHAP1 lactate dehydrogenase A pseudogene 1 4 4 4 p16.2 4792358 4794001 - 4895351 4896995 - 4893624 4895268 - 11990523;3793094;3838278;9847074 3940 ABBA01008253;AC092437;AMYH02008649;NG_003016;X02153 LDHAL1 APPROVED pseudo HGNC:6536 INFERRED 1345292 LDHAP2 lactate dehydrogenase A pseudogene 2 1 1 1 q42.3 209144521 209146235 + 235901195 235902909 + 235737895 235739609 + 3793094 100190799 ABBA01033144;AL121997;AMYH02002950;NG_008633 LDHAL2 APPROVED pseudo HGNC:6537 INFERRED 1347892 LDHAP3 lactate dehydrogenase A pseudogene 3 2 2 2 p21 41886294 41888295 + 42046788 42048789 + 41819648 41821649 + 3180843 442013 ABBA01075055;AC009413;AMYH02003664;NG_009318 LDHAL3 APPROVED pseudo HGNC:6538 INFERRED 1353140 LDHAP4 lactate dehydrogenase A pseudogene 4 9 9 9 p22.3 14854195 14855939 - 14920687 14922431 - 14920689 14922433 - 3000353;3180843 158222 ABBA01065293;AF461457;AL592293;AMYH02019201;NG_001313 1742523;1849279 GDB:197849;LDHA LDHAL4 APPROVED pseudo HGNC:6539 INFERRED 1346556 LDHAP5 lactate dehydrogenase A pseudogene 5 10 10 10 q26.11 114422225 114423412 - 120691608 120692795 - 118932096 118933283 - 3180843 729666 ABBA01062927;AL157788;AMYH02023898;NG_008632 1712532 AU046641 LDHAL5 APPROVED pseudo HGNC:6540 INFERRED 1352174 LDHAP7 lactate dehydrogenase A pseudogene 7 2 2 2 p11.2 84831900 84834230 - 85003113 85005443 - 84775989 84778319 - 100190800 ABBA01075727;AC010087;AMYH02004158;NG_008634 LDHAL7 APPROVED pseudo HGNC:23144 INFERRED 735463 LDHB lactate dehydrogenase B This gene encodes an enzyme which catalyzes the reversible conversion of lactate and pyruvate, and NAD and NADH, in the glycolytic pathway. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on the X chromosome and on chromosome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2010] 12 12 12 p12.2-p12.1 26943264 26965789 - 21788275 21810789 - 21635341 21657971 - 1300048;1580863;6480464;6907045;7240710 10211631;10508479;10509905;1081369;11125887;11276087;11509017;11582518;12160330;12477932;12555229;1371976;15489334;15492215;15576338;15592455;15710247;1587525;16130169;16196087;16236267;17178662;18457437;18593994;18781797;19056867;19135240;19338310;19596686;19738201;19786724;19946888;20000738;20499337;20592382;20639865;20877624;20951115;21044950;21139048;21145461;21199794;21319273;21356207;21853274;21858537;21890473;21906983;21963094;21987572;21988832;22027740;22053931;22248949;22304920;22461886;22505724;22623428;22752059;22807456;22863883;22891270;22892192;22939629;22990118;23000965;23125841;23139210;23166591;23184937;23202721;23224736;23246001;23266049;2334429;23349634;23437403;23516535;23697991;24457600;24682390;25015289;25027693;2930497;3435492;7273846;7821789;8314553;8462975;8611651;9929983 3945 A8MW50;C9J7H8;F5H793;P07195;Q5U077 AB209231;ABBA01067971;AC010197;AK129881;AK312328;AL516910;AMYH02026169;AY189689;BC002362;BC015122;BC022835;BC071860;BT019764;BT019765;CH471094;CX867875;D28368;EU794633;EU919185;NG_017038;NM_001174097;NM_002300;X13794;X13800;XM_006719074;Y00711 AAH02362;AAH15122;AAH71860;AAO85222;AAV38569;AAV38570;ABM82780;ACF98331;ACJ13687;BAA05734;BAD92468;BAG35250;CAA32033;CAA68701;EAW96448;EAW96449;NP_001167568;NP_002291;P07195;XP_006719137 Hs.446149 1688108;1743995;1754067;1772070;1782778;1847212;2186327;5109747 D13S838E;G07018;GDB:384749;RH15605;SHGC-12682;SHGC-132102;SHGC-173311;STS-X13800 HEL-S-281;LDH-B;LDH-H;LDHBD;TRG-5 L-lactate dehydrogenase B chain;LDH heart subunit;OTTHUMP00000165228;OTTHUMP00000165229;OTTHUMP00000165231;epididymis secretory protein Li 281;lactate dehydrogenase H chain;renal carcinoma antigen NY-REN-46 APPROVED protein-coding ENSG00000111716 HGNC:6541 01026 150100;614128 REVIEWED 1344718 LDHBP1 lactate dehydrogenase B pseudogene 1 13 13 13 q34 94757621 94758678 + 113930989 113932046 + 113276674 113277731 + 100289475 ABBA01019864;AL136221;AMYH02028740;NG_021974 1647159;1688108 RH15605;SHGC-53640 LDHBL1 APPROVED pseudo HGNC:6542 INFERRED 1348419 LDHBP2 lactate dehydrogenase B pseudogene 2 X X X q13.3 75834770 75836037 - 75555042 75556309 - 76334643 76335910 - 2393406 3947 ABBA01059347;AL442646;AMYH02039800;M60601;NG_001155 1754067;1772070 G07018;SHGC-132102 LDHBL2;LDHBP APPROVED pseudo HGNC:6543 INFERRED 4145467 LDHBP3 lactate dehydrogenase B pseudogene 3 5 5 5 q14.3 88036132 88036919 - 92176544 92177331 - 92840837 92841624 - 100129283 ABBA01069289;AC008517;AMYH02011796;NG_016809 pseudo HGNC:39136 INFERRED 1349750 LDHC lactate dehydrogenase C Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008] 11 11 11 p15.1 18568783 18608411 + 18433851 18472798 + 18412304 18451246 + 1580863;6480464;6907045 11125887;11377399;11582518;12438276;12477932;14985855;15489334;16600870;17178662;17207965;17935709;18368308;18930904;20499337;21124955;21858537;22990118;23077236;23428871;2440048;24529757;2596827;2844458;2930531;3175768;7382246;8318584;8614414 3948 F5GWS6;F5GZ11;F5H155;F5H245;F5H326;F5H5G7;G3XAP5;P07864 ABBA01061055;ABBA01061056;AC027544;AC084117;AF401094;AF401095;AF401096;AF401097;AK058181;AMYH02024397;AY286300;BC019249;BC064388;BC090043;BG717645;CH471064;GU479374;HQ386000;HQ386001;HQ386002;HQ386003;HQ386004;J02938;L15230;NG_011816;NM_002301;NM_017448;U13680;XM_005252918;XM_005252919 AAA21348;AAA59507;AAH19249;AAH64388;AAH90043;AAN87112;AAP37402;ADG58108;ADQ32611;AEW43811;AEW43812;AEW43813;AEW43814;EAW68389;EAW68390;EAW68391;EAW68392;EAW68393;EAW68394;NP_002292;NP_059144;P07864;XP_005252975;XP_005252976 Hs.654377 1681634;1855285;2153918 LDHC;RH98700;STS-U13680 CT32;LDH-C;LDH-X;LDH3;LDHX;MGC111073 L-lactate dehydrogenase C chain;LDH testis subunit;OTTHUMP00000236649;OTTHUMP00000236651;OTTHUMP00000236655;OTTHUMP00000236657;cancer/testis antigen 32;lactate dehydrogenase C4;lactate dehydrogenase c variant 1;lactate dehydrogenase c variant 3;lactate dehydrogenase c variant 4 APPROVED protein-coding ENSG00000166796 HGNC:6544 01027 150150 REVIEWED 1317689 LDHD lactate dehydrogenase D The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 16 16 16 q23.1 59438660 59443568 - 75145758 75150670 - 75111860 75116772 - 1580863;6480464;6907045 11125887;11582518;12127981;12477932;15489334;19844255;20499337;20877624;21145461;23333299;23665963 197257 H3BM70;Q86WU2 ABBA01058123;AC099508;AMYH02032392;AY092767;BC040279;BC047902;BM544922;CH471114;NM_153486;NM_194436 AAH40279;AAH47902;AAM50322;EAW95664;EAW95665;EAW95666;EAW95667;NP_705690;NP_919417;Q86WU2 Hs.380929 1665564 SHGC-60690 DLD;MGC57726 D-lactate dehydrogenase;OTTHUMP00000174943;probable D-lactate dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000166816 HGNC:19708 06318 607490 REVIEWED 735594 LDLR low density lipoprotein receptor The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] 19 19 19 p13.2 11094887 11139322 + 11200037 11244506 + 11089362 11133830 + 1580510;1581823;1580998;1581826;1331525;1581824;1580863;1626106;2324626;2324630;5490243;5490246;5490253;5490254;5490232;5490242;5490245;5490248;1581819;5490239;5490241;5490244;5490231;5490255;6480464;6907045;7240710;7241070;8554872;8699517 12209363;12730697;12873747;12969990;15118671;15526154;15585340;15689450;16378661;16459141;16741934;16741953;16796766;17239995;17288738;17380167;18054320;18316222;1867200;19811272;21755005;21795641;9614153 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30;8182149;8300609;8347689;8462973;8555255;8626535;8664907;8740918;8889549;9016531;9026534;9104431;9143924;9222758;9254862;9259195;9262405;9265653;9555943;9654205;9678702;9733438;9744476;9788750;9837937;9852677 3949 H0YM92;H0YMD1;H0YMQ3;J3KMZ9;P01130 AA292214;AB209409;ABBA01029871;ABBA01029872;ABBA01029873;ABBA01029874;AC011485;AF217403;AK295612;AK296312;AK299038;AK300313;AMYH02035520;AMYH02035521;AMYH02035522;AY114155;AY324609;AY504954;BC014514;BM785950;BT007361;BX648281;CH471106;CS173038;DA008286;DB081391;DC306821;FJ525879;KF456500;L00352;L29401;M28219;NG_009060;NM_000527;NM_001195798;NM_001195799;NM_001195800;NM_001195803;S40543;S70123;U59436;XR_244074 AAA56833;AAA59509;AAB02658;AAB22609;AAB30338;AAF24515;AAH14514;AAM56036;AAP36025;AAP72971;AAR98971;ABM84805;ACN81317;BAD92646;BAG58495;BAG59010;BAG61112;BAG62065;CAJ33700;EAW84168;EAW84169;EAW84170;EAW84171;EAW84172;NP_000518;NP_001182727;NP_001182728;NP_001182729;NP_001182732;P01130 Hs.213289;Hs.713981 1341372;1648220;1655394;1694902;1722445;1740975;1741171;1741605;1741653;1741811;1741919;1741991;1745279;1745635;1745689;1745691;1792126;1792128;1794406;2169343;5014051;5015619;5016478;5022651;5037552;5120702 D11S2921;D11S3114;D19S1126;D19S584;D8S2278;D8S2279;G44338;G60299;GDB:177082;GDB:178396;GDB:181559;GDB:181630;GDB:185228;GDB:186840;GDB:187708;GDB:371455;GDB:434012;GDB:597677;GDB:626790;GDB:631903;GDB:631909;PMC137182P7;PMC137182P8;PMC311069P3;RH66831;STS-M28219 FH;FHC;LDLCQ2 LDL receptor;low-density lipoprotein receptor;low-density lipoprotein receptor class A domain-containing protein 3 1643248 BW138_H APPROVED protein-coding ENSG00000130164 HGNC:6547 06091 143890;606945 REVIEWED 1603477 LDLRAD1 low density lipoprotein receptor class A domain containing 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH paracetamol; flutamide (ortholog); titanium dioxide (ortholog) 1 1 1 p32.3 52762183 52771480 - 54472971 54483859 - 54007298 54018186 - 6480464;8554872 12477932;24722188;8889548 388633 Q5T700 ABBA01074729;AL353898;AMYH02001044;BC103740;BC127708;BC127709;BC140760;BC144466;BC171743;BM977091;CF887342;CH471059;NM_001010978;NM_001276392;NM_001276393;NM_001276394;NM_001276395;XM_006710641;XM_006710642 AAI27709;AAI27710;AAI40761;AAI44467;EAX06712;NP_001010978;NP_001263321;NP_001263322;NP_001263323;NP_001263324;Q5T700;XP_006710704;XP_006710705 Hs.439583 OTTHUMP00000010102;OTTHUMP00000010103;low density lipoprotein receptor A domain containing 1;low-density lipoprotein receptor class A domain-containing protein 1 protein-coding ENSG00000203985 HGNC:32069 17372 VALIDATED 1606368 LDLRAD2 low density lipoprotein receptor class A domain containing 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p36.12 20461696 20474651 + 22138758 22151714 + 21812265 21825221 + 6480464 12477932 401944 Q5SZI1 ABBA01059833;AK127275;AL590103;AMYH02000460;AMYH02000461;BC043362;BC146860;CH471134;NM_001013693;XM_005245873;XR_241191 AAI46861;BAC86913;EAW94993;NP_001013715;Q5SZI1;XP_005245930 Hs.745158 1687926;1744665;1775748;2137094 G15904;GDB:549190;RH79675;STS-M85289 OTTHUMP00000002767;low density lipoprotein receptor A domain containing 2;low-density lipoprotein receptor class A domain-containing protein 2 protein-coding ENSG00000187942 HGNC:32071 18436 VALIDATED 1605868 LDLRAD3 low density lipoprotein receptor class A domain containing 3 ENCODES a protein that exhibits beta-amyloid binding (inferred); INVOLVED IN receptor-mediated endocytosis (inferred); regulation of protein processing (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cell junction; INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-nicotine; 17beta-estradiol 11 11 11 p13 36112827 36400880 + 35965537 36253688 + 35944062 36231291 + 6480464;8554872 12477932;16303743;19322201;20379614;20410850;21795536 143458 E9PR86;Q86YD5 ABBA01060850;ABBA01060851;ABBA01060852;AC026269;AC087277;AC129502;AK075546;AK293930;AK299186;AL136146;AMYH02024600;AMYH02024601;AMYH02024602;AMYH02024603;BC042754;BC136286;BC143823;BC143824;CH471064;CS051393;NM_174902 AAH42754;AAI36287;AAI43825;BAC11689;BAH11629;BAH12964;CAI72191;EAW68125;EAW68126;EAW68127;NP_777562;Q86YD5 Hs.745134 1338334;1340462;1667486;1719357;1749289;1755563;1779220;1782400;1782406;2162693;7187874 D11S4185;D11S4419;D11S935;RH123406;RH45480;SHGC-110963;SHGC-142418;SHGC-152853;SHGC-154579;SHGC-154746 LRAD3 OTTHUMP00000232573;OTTHUMP00000232574;OTTHUMP00000232575;low-density lipoprotein receptor class A domain-containing protein 3 protein-coding HGNC:27046 14063 PROVISIONAL 1313099 LDLRAD4 low density lipoprotein receptor class A domain containing 4 ENCODES a protein that exhibits R-SMAD binding; INVOLVED IN negative regulation of cell migration; negative regulation of epithelial to mesenchymal transition; negative regulation of pathway-restricted SMAD protein phosphorylation; FOUND IN early endosome membrane; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 18 18 18 p11.21 13101030 13535088 + 13218729 13652753 + 13218016 13652754 + 6480464 12477932;14702039;15074360;15489334;16344560;17207965;19430479;19461657;19834535;20379614;22505724;23180869;24627487;7566098;8889548;9129712;9399696;9479497 753 A8K6A9;K7EJM9;K7EKD6;K7EMG1;O15165 AA310737;ABBA01074036;ABBA01074037;ABBA01074038;ABBA01074039;ABBA01074040;ABBA01074041;ABBA01074042;AF009424;AF009425;AF009426;AF009427;AF009428;AF009429;AF009430;AF009431;AF009432;AF009433;AF009434;AF009435;AF009436;AF009437;AI668861;AI878844;AK023474;AK055028;AK291574;AMYH02034345;AMYH02034346;AMYH02034347;AMYH02034348;AMYH02034349;AMYH02034350;AMYH02034351;AP001010;AP002439;AP002505;AP005131;BC029958;BC030199;BC047093;BC066971;BM715555;BM805426;BM917439;BM991627;BX114947;CH471113;CR748400;DA126127;DA246476;DA276009;DA321390;DA369876;DA391326;DA412541;DA418068;DB107684;DB272592;DC327672;DC328561;H04910;HY115972;HY309264;JA738551;JA738553;JA738555;JA738557;JA738559;JA738561;N48737;N63974;NM_001003674;NM_001003675;NM_001276249;NM_001276251;NM_181481;NM_181482;XM_005258140;XM_006722350;XM_006722351;XM_006722352;XM_006722353;XM_006722354;XM_006722355 AAC52023;AAC52024;AAC52025;AAC52026;AAH30199;AAH66971;ADQ31925;BAF84263;BAG51451;CCF76928;CCF76929;CCF76930;CCF76931;CCF76932;CCF76933;EAX01511;EAX01512;EAX01513;EAX01514;NP_001003674;NP_001003675;NP_001263178;NP_001263180;NP_852146;NP_852147;O15165;XP_005258197;XP_006722413;XP_006722414;XP_006722415;XP_006722416;XP_006722417;XP_006722418 Hs.731853;Hs.745141 1649033;1650007;1658314;1662652;1671454;1676408;1679591;1688668;1689153;1708728;1722019;1740219;1762767;1765885;1777724;1848922;1848924;2127791;2128008;2151365;2154410;2163754;2176999 A005V34;D18S1074;D18S852;G20539;G29169;G59896;RH15947;RH16027;RH16149;RH48512;RH65178;RH70515;RH75211;RH79722;RH92128;SHGC-146549;SHGC-149303;SHGC-56441;SHGC-58439;SHGC-81577;STS-AA001607;WI-15670;WIAF-2137 C18orf1 clone 22;hypothetical protein LOC753;low-density lipoprotein receptor class A domain-containing protein 4;uncharacterized protein C18orf1 APPROVED protein-coding ENSG00000168675 HGNC:1224 07358 606571 VALIDATED 7244557 LDLRAD4-AS1 LDLRAD4 antisense RNA 1 18 18 18 p11.21 13301452 13309541 - 13419498 13427533 - 13419499 13427534 - 14702039;17213182 100288122 ABBA01074041;AK098298;AMYH02034348;AP002439;BC042085;DT217238;HG509793;NR_040031 Hs.646264;Hs.739715 1708728 SHGC-81577 RP11-691H4.1 ncrna ENSG00000267690 HGNC:48592 VALIDATED 1606809 LDLRAP1 low density lipoprotein receptor adaptor protein 1 The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008] 1 1 1 p36-p35 24265963 24291423 + 25870071 25895377 + 25543580 25591211 + 1626106;1626107;6480464;6907045;7240710;8554872;8699517 15599766;17380167 11326085;11897284;12016260;12221107;12417523;12451172;12464675;12477932;12535754;12746448;12788851;12805363;14528014;14702039;15166224;15489334;15497461;15728179;16129683;16189514;16344560;16710414;16870701;16984970;17686643;17727637;18417616;19081568;19477448;19841541;19913121;20124734;20237496;20628086;20686565;21139048;21444685;21778424;21872251;21906983;21915095;22509010;23000965;23510778;23564733;24097068 26119 B3KR97;Q5SW96 ABBA01017760;AK024397;AK091219;AK124554;AK309850;AK309853;AL117654;AL606491;AMYH02000542;AY389348;BC029770;BX572623;CH471059;DA930479;NG_008932;NM_015627;XM_006710558;XM_006710559;XM_006710560;XM_006710561;XM_006710562;XR_426598 AAH29770;AAQ90407;BAB14908;BAG52309;CAB56030;EAX07872;EAX07873;EAX07874;EAX07875;NP_056442;Q5SW96;XP_006710621;XP_006710622;XP_006710623;XP_006710624;XP_006710625 Hs.590911 1657451;1692992;1756999;2109057;2152995;2173829;5019889;5093424 A009O34;AL034214;ARH_9459;G32710;G54707;SHGC-144355;SHGC-74391;SHGC-74429 ARH;ARH1;ARH2;DKFZp586D0624;FHCB1;FHCB2;MGC34705 LDL receptor adaptor protein;OTTHUMP00000008526;autosomal recessive hypercholesterolemia protein;low density lipoprotein receptor adapter protein 1 APPROVED protein-coding ENSG00000157978 HGNC:18640 05765 603813;605747 REVIEWED 1344664 LDOC1 leucine zipper, down-regulated in cancer 1 The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. [provided by RefSeq, Jul 2008] X X X q27 140808897 140810277 + 140269930 140271310 - 141175745 141177214 - 1580863;6480464 10403563;12477932;12712434;15489334;15588942;15670815;15716091;15772651;16093683;16189514;19060904;20195357;21139048;21310924;21547351;21986234;22546831;23362108;23775301;24125169;24722188 23641 O95751 AB019527;ABBA01007703;AC234778;AF086537;AL109799;AMYH02040641;BC003104;CH471170;CR457088;NM_012317 AAH03104;ABZ92315;BAA34364;CAC18891;CAG33369;EAW78004;NP_036449;O95751 Hs.45231 1795216;5016035 LDOC1;bG82i1.9,_DNA_segment_containing_(CA)_repeat BCUR1;Mar7;Mart7 OTTHUMP00000024174;breast cancer, up-regulated 1;leucine zipper protein down-regulated in cancer cells APPROVED protein-coding ENSG00000182195 HGNC:6548 02322 300402 REVIEWED 1345067 LDOC1L leucine zipper, down-regulated in cancer 1-like INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; menadione 22 22 22 q13.31 28800351 28805906 - 44888450 44894005 - 44492570 44498125 - 6480464 11230166;12477932;15461802;15716091;16093683;18029348;20562859;20811636 84247 Q6ICC9;Q9BQJ3 ABBA01017866;AK126304;AK296479;AK313688;AL023973;AL136553;AMYH02038494;BC018713;BC030232;BX648506;CR456439;NM_032287;Z75407 AAH30232;BAG36437;BAG59119;CAB66488;CAG30325;CAK54468;CAK54767;NP_115663;Q6ICC9 Hs.744991 1671430;2172646;2185838 A007A35;RH45500;WI-14034 DKFZp761O17121;Mar6;Mart6;dJ1033E15.2 OTTHUMP00000197431;leucine zipper protein down-regulated in cancer cells-like;mammalian retrotransposon-derived protein 6 protein-coding ENSG00000188636 HGNC:13343 13982 VALIDATED 1601831 LEAP2 liver expressed antimicrobial peptide 2 This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by RefSeq, Sep 2014] 5 5 5 q31.1 128339383 128340607 + 132209358 132210582 + 132873666 132874890 + 6480464 12477932;12493837;15489334;19852990;20038463;20379614;20845358 116842 Q7Z5F5;Q969E1 ABBA01068794;AC004500;AF143867;AJ306405;AJ409064;AJ409065;AMYH02012220;AY052782;BC070199;BX443829;CH471062;NG_030340;NM_052971 AAH70199;AAL14242;CAC51306;CAC51515;CAC51516;EAW62306;EAW62307;NP_443203;Q969E1 Hs.337588 1697030;1803498;1805654;1806800;2002250;2002252;2002254;2002256;2002258;2002260;2002262;2002264;2002266;2002268;2002270;2002272;2002274;2002276;2002278;2002280;2096586;2096588;2116327 ECD02647;ECD03777;ECD04362;REN72037;REN72038;REN72039;REN72040;REN72041;REN72042;REN72043;REN72044;REN72045;REN72046;REN72047;REN72048;REN72049;REN72050;REN72051;REN72052;RH101992;STS-R93723;stSG601588;stSG601589 LEAP-2 OTTHUMP00000066208;liver-expressed antimicrobial peptide 2 APPROVED protein-coding HGNC:29571 17269 611373 REVIEWED 1347278 LECT1 leukocyte cell derived chemotaxin 1 This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 13 13 13 q14.3 34263294 34299841 - 53277399 53313947 - 52703087 52739812 - 737626;1580863;6480464;8554872 10103018 10570955;10750556;10912526;11323410;12477932;14744535;15107420;15174051;16142856;16980969;17980151;18077449;20026108;20663886;21150319;22041680;23143879;9731231 11061 E9PKI9;O75829 AB005999;AB006000;AB021290;ABBA01037066;AF050147;AL139085;AL139089;AMYH02028050;AY368652;BC025659;CH471124;CR541910;NM_001011705;NM_007015;XM_006719760;XM_006719761 AAC98971;AAH25659;AAQ72693;BAA33443;BAA77384;BAA86262;CAG46708;EAW52047;EAW52048;NP_001011705;NP_008946;O75829;XP_006719823;XP_006719824 Hs.421391 1679087;2111154;2111670;5023103 D13S1589;D13S300;RH92491;btcn2277 BRICD3;CHM-I;CHM1;MYETS1 BRICHOS domain containing 3;OTTHUMP00000018466;OTTHUMP00000235443;chondromodulin I;chondromodulin-1;chondromodulin-I;leukocyte cell-derived chemotaxin 1;multiple myeloma tumor suppressor 1 APPROVED protein-coding ENSG00000136110 HGNC:17005 05511 605147 REVIEWED 1313416 LECT2 leukocyte cell-derived chemotaxin 2 This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protein has high sequence similarity to the chondromodulin repeat regions of the chicken myb-induced myeloid 1 protein. A polymorphism in this gene may be associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 131407331 131415454 - 135282600 135290723 - 135946911 135955034 - 1580863;6480464 10857804;11752456;12477932;15239100;15243190;15372022;15489334;15561248;15561249;19240061;20237496;20951486;21139048;21394108;23519812;24114941;24390366;24415538;24478397;24792621;8877413;9266841;9524238;9545637;9832057 3950 D6RD58;D6RGX8;E5RHW6;O14960 AB007546;ABBA01068719;AC002428;AC004763;AK314092;AMYH02012261;AV661075;BC093670;BC101579;BI825931;CH471062;D63521;KF458008;NM_002302 AAB66905;AAC17734;AAH93670;AAI01580;BAA23609;BAA25669;BAG36787;EAW62201;NP_002293;O14960 Hs.512580 2184107;2217556 LECT2_3048;RH68467 MGC126628;chm-II;chm2 OTTHUMP00000159422;OTTHUMP00000223349;OTTHUMP00000228311;chondromodulin-II;leukocyte cell-derived chemotaxin-2 APPROVED protein-coding ENSG00000145826 HGNC:6550 04196 602882 REVIEWED 735736 LEF1 lymphoid enhancer-binding factor 1 This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereby conferring maximal enhancer activity. This transcription factor is involved in the Wnt signaling pathway, and it may function in hair cell differentiation and follicle morphogenesis. Mutations in this gene have been found in somatic sebaceous tumors. This gene has also been linked to other cancers, including androgen-independent prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 q23-q25 106263513 106384975 - 108968701 109090112 - 108047545 108168956 - 1580863;2293188;2298717;2298720;2301908;6480464;6907045;7240710 10528152;14520463;16459154;18432252 10644691;10756202;10825188;10890911;10958684;11266540;11326276;11440173;11604490;11696550;11731474;11751639;11835406;12032083;12048204;12052822;12077367;12095232;12161443;12183361;12192039;12235165;12408825;12446687;12477932;12551949;12556497;12589056;12707037;12748295;12901858;14661054;14759258;14990565;15000148;15143193;15194563;15245424;15489334;15525529;15684397;15728254;15750622;15756419;15768032;16014379;16120831;16142310;16204248;16228014;16344550;16415175;16424171;16474850;16510874;16510875;16565724;16714285;16809766;17063141;17132729;17240357;17360796;17466981;17585052;17785436;17785445;1783375;17947518;17980157;18029348;18077326;1827423;18296023;18316418;18445004;18579517;18615589;18636547;18794125;18936100;19060910;19079342;19131506;19244345;19304756;19351848;19402906;19453261;19460168;19576624;19590514;19620402;19653274;19784072;1989880;20019092;20098615;2010090;20124220;20194509;20211142;20219685;20332099;20363964;20595513;20634891;20676368;21190562;21270130;21282610;21285352;21383983;21444716;21471213;21527502;21544627;21599871;21685909;21744004;21781440;21795403;21980470;21988832;21998751;22020335;22111711;22261717;22291604;22359570;22436613;22505724;22507326;22639890;22686279;22766851;22769578;22792274;22815426;22837378;22905168;23001182;23068607;23224985;23325550;23375451;23449499;23572277;23713453;23770605;23913826;24098538;24394665;24419084;24816145;24897388;7537238;7657162;7958926;8125298;8631802;8757136;9119227;9119228;9308964;9419974;9488439;9671491;9751710;9843967 51176 D6RAB1;D6RID7;D6RIV1;Q659G9;Q9UJU2 ABBA01063757;ABBA01063758;ABBA01063759;AC092539;AC097067;AC118062;AC123576;AF086339;AF198532;AF203908;AF288571;AF294627;AK128255;AK225772;AK294395;AK303143;AK303272;AL049409;AMYH02009881;AMYH02009882;AMYH02009883;AY129650;BC040559;BC050632;CH471057;DC405840;DC406065;JN232202;NG_015798;NM_001130713;NM_001130714;NM_001166119;NM_016269;XM_005263046;XM_005263047;XM_005263048;XM_006714233 AAF13268;AAG01022;AAG26886;AAH40559;AAH50632;AAN06089;ABZ92402;AEW16365;BAG57649;BAG64247;BAH13928;CAH56421;EAX06221;EAX06222;EAX06223;EAX06224;EAX06225;NP_001124185;NP_001124186;NP_001159591;NP_057353;Q9UJU2;XP_005263103;XP_005263104;XP_005263105;XP_006714296 Hs.743478 1648928;1717149;1718257;1785042;1796244;2120553 LEF1_1628;RH121496;RH122898;SHGC-154060;SHGC-18750;SHGC-18753 DKFZp586H0919;FLJ46390;LEF-1;TCF1-alpha;TCF10;TCF1ALPHA;TCF7L3 OTTHUMP00000162624;OTTHUMP00000219736;OTTHUMP00000219737;OTTHUMP00000219738;T cell-specific transcription factor 1-alpha;lymphoid enhancer binding factor 1 APPROVED protein-coding ENSG00000138795 HGNC:6551 01075 153245 REVIEWED 6483969 LEF1-AS1 LEF1 antisense RNA 1 4 4 4 q25 106383544 106392449 + 109088681 109097586 + 108167525 108176430 + 12477932;16751776 641518 Q8WUE9 ABBA01063759;AC097067;AMYH02009883;BC020624;BC041819;BC067877;NR_029373;NR_029374 AAH20624 Hs.535760 1708008;1785042;5124570 RH99070;SHGC-154060;SHGC-84673 APPROVED ncrna ENSG00000232021 HGNC:40339 VALIDATED 1350904 LEFTY1 left-right determination factor 1 This gene encodes a member of the TGF-beta family of proteins. A similar secreted protein in mouse plays a role in left-right asymmetry determination of organ systems during development. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq, Jul 2008] 1 1 1 q42.1 199265024 199267877 - 226073982 226076846 - 225886282 225889146 - 6480464;6907045 10053005;10886363;11100524;12477932;12975309;15308665;15489334;16710414;17038673;18187620;19874624;19913121;20628086;20734064;21266536;21401636;22441145;23407711;23592333;8125298 10637 O75610 ABBA01009662;AF081504;AF081505;AF081506;AF081507;AF081512;AK129605;AK222714;AK309263;AK313115;AL117348;AMYH02002798;AY358873;BC027883;CH471098;NM_020997 AAC33967;AAD48144;AAH27883;AAQ89232;ABM87625;BAD96434;BAG35937;EAW69760;NP_066277;O75610 Hs.656214 2108805 LEFTB_9158 LEFTB LEFTYB;OTTHUMP00000035572;left-right determination factor B;left-right determination, factor B;protein lefty-1;protein lefty-B APPROVED protein-coding ENSG00000243709 HGNC:6552 09116 603037 REVIEWED 1348079 LEFTY2 left-right determination factor 2 This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2010] 1 1 1 q42.1 199315346 199320132 - 226124298 226129083 - 225936598 225941383 - 1598793;6480464;6907045;7240710;8554872 10902804 10053005;10886363;11100524;12215426;12477932;14702039;15308665;15536155;16303743;16344560;17038673;20634891;20734064;21266536;21401636;21988832;22469982;3457014;9153275;9230066;9496783;9665343 7044 O00292 AA922485;ABBA01009662;AF081508;AF081509;AF081510;AF081511;AF081513;AK027520;AK075344;AK094077;AK304549;AL117348;AMYH02002799;BC035718;BC065929;CH471098;DA269806;NG_008118;NM_001172425;NM_003240;U81523 AAB53269;AAC32600;AAD48145;AAH35718;ADZ15929;BAC11556;BAG51336;BAG65344;EAW69766;EAW69767;NP_001165896;NP_003231;O00292 Hs.520187 1795722 EBAF_62 EBAF;MGC46222;TGF-beta-4;TGFB4 LEFTA;LEFTYA;OTTHUMP00000035570;endometrial bleeding associated factor;endometrial bleeding-associated factor;left-right determination factor A;protein lefty-2;protein lefty-A;transforming growth factor beta-4 APPROVED protein-coding ENSG00000143768 HGNC:3122 03526 601877 REVIEWED 1605790 LEKR1 leucine, glutamate and lysine rich 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); orphenadrine (ortholog) 3 3 3 q25.31 154967679 155187419 + 156543069 156763918 + 156825280 157046129 + 6480464;8554872 12477932;14702039;16344560;19010793;20372150;21441570;22073261;22504420;22911880;23575227 389170 D3DNK7;D6RAK6;D6RJ01;J3KP02;Q6ZMV7 ABBA01058836;ABBA01058837;AC092993;AC106708;AC117392;AK094480;AK131473;AMYH02007976;AMYH02007977;AMYH02007978;AMYH02007979;BC041967;CH471052;DA075031;NM_001004316;NM_001193283;XM_005247441;XM_005247442;XM_006713631;XM_006713632;XM_006713633;XM_006713634;XM_006713635;XM_006713636 BAD18618;EAW78718;EAW78719;EAW78720;EAW78721;EAW78722;NP_001004316;NP_001180212;Q6ZMV7;XP_005247498;XP_005247499;XP_006713694;XP_006713695;XP_006713696;XP_006713697;XP_006713698;XP_006713699 Hs.478048 1679479;1686358;1688845;1715055;1729313;2106167 D6S2755;G64202;RH119479;RH27392;RH64874;RH93270 FLJ16641;FLJ37161 OTTHUMP00000213222;OTTHUMP00000217608;leucine-, glutamate- and lysine-rich protein 1 protein-coding ENSG00000197980 HGNC:33765 16915 613536 VALIDATED 1604741 LELP1 late cornified envelope-like proline-rich 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; amiodarone; atrazine 1 1 1 q21.3 126246418 126248095 + 153175906 153177601 + 153203430 153205125 + 6480464;8554872 12477932;15489334;16344560;16710414;17387579;22082156 149018 Q5T871 ABBA01049433;AL161636;AMYH02001901;AX971667;BC087854;BC130507;BC130511;DB069578;DB086762;HC007078;HC044831;NM_001010857 AAH87854;AAI30508;AAI30512;ADR82795;CAF16775;CBH19344;CBH30745;NP_001010857;Q5T871 Hs.125785 OTTHUMP00000015821;late cornified envelope-like proline-rich protein 1;novel small proline rich protein;novel small proline-rich protein protein-coding ENSG00000203784 HGNC:32046 17303 611042 VALIDATED 1346619 LEMD1 LEM domain containing 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; genistein; phenobarbital 1 1 1 q32.1 178485686 178526349 - 205350506 205391214 - 205381378 205449950 - 6480464 12477932;15254688;17207965;20682177 93273 Q68G75 AB084764;AB084765;AB085610;AB096677;AB096678;AB096679;AB096680;AB096681;AB096682;ABBA01027415;ABBA01027416;ABBA01027417;AC098936;AI923802;AK026628;AK302392;AMYH02002547;BC036636;CH471067;DC399934;NM_001001552;NM_001199050;NM_001199051;NM_001199052;NR_037583;XM_006711632 AAH36636;ADQ31927;BAD20779;BAD20780;BAD20781;BAD20782;BAD20783;BAD20784;BAD20785;BAD20786;BAD20787;BAG63707;EAW91554;EAW91555;EAW91556;EAW91557;EAW91558;NP_001001552;NP_001185979;NP_001185980;NP_001185981;Q68G75;XP_006711695 Hs.655520;Hs.745447 1679099;1690426;2144975 G16259;RH80907;RH92566 CT50;LEMP-1 LEM domain protein 1;LEM domain-containing protein 1;OTTHUMP00000035323;OTTHUMP00000035324;OTTHUMP00000035325;cancer/testis antigen 50 protein-coding ENSG00000186007 HGNC:18725 13983 610480 VALIDATED 6766461 LEMD1-AS1 LEMD1 antisense RNA 1 1 1 1 q32.1 178477553 178491741 + 205342380 205356568 + 205373252 205387440 + 14702039 284576 ABBA01027417;ABBA01027418;AC098936;AK090497;AMYH02002547;HG493108;NR_038425 Hs.585440 1690426;5016478;5022651 D11S2921;GDB:434012;RH92566 RP11-576D8.2 APPROVED ncrna ENSG00000226235 HGNC:44132 VALIDATED 1313312 LEMD2 LEM domain containing 2 INVOLVED IN skeletal muscle cell differentiation; FOUND IN integral component of nuclear inner membrane; membrane; nuclear membrane; INTERACTS WITH cyclosporin A; mitoxantrone; potassium dichromate 6 6 6 p21.31 35293376 35311312 - 33738990 33756906 - 33771213 33789129 - 6480464 12477932;16303743;16339967;18029348;19531213;19720741;19851445;19946888;20558539;21890473;22005931;22810585;23251661;23850713;24250222;8889548 221496 D6R958;D6RBV0;H0Y8H8;H0Y9B7;H7C2Z0;Q8NC56 ABBA01038163;AK024858;AK026077;AK074959;AK127084;AK301083;AK309888;AL158049;AMYH02013502;BC039864;BC051803;BM978238;CH471081;CQ782927;DC340017;NM_001143944;NM_181336 AAH51803;BAC11316;BAG62687;CAF86155;EAX03750;EAX03751;NP_001137416;NP_851853;Q8NC56 Hs.444845 1665416;1665418 RH46686;WI-14169 NET25;dJ482C21.1;hLEM2 LEM domain-containing protein 2;OTTHUMP00000016218;OTTHUMP00000222574;OTTHUMP00000222575 protein-coding ENSG00000161904 HGNC:21244 13984 VALIDATED 1343559 LEMD3 LEM domain containing 3 This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009] 12 12 12 q14 65228844 65307664 + 65563351 65642141 + 65169571 65248361 + 1580863;6480464;7240710;8554872;8699517 10671519;11896184;15231748;15489854;15601644;15647271;15681850;16470551;16648637;17081983;17087626;17223882;17505164;17622481;18729074;19438932;20083694;20360068;20618940;20678097;20732851;21139048;21906983;21966431;22412018;22939629;23000965;23779087;24816145 23592 Q9Y2U8 ABBA01026591;ABBA01026592;AC026124;AF112299;AF263918;AK024954;AK295406;AK304317;AK312473;AL137533;AMYH02026672;BX390128;CH471054;KF455665;NG_016210;NM_001167614;NM_014319 AAD31593;AAF73293;AAI67864;BAG58357;BAG65169;CAB70796;EAW97148;EAW97149;NP_001161086;NP_055134;Q9Y2U8 Hs.744150 1338520;1706454;1739713;1746497;1772956;2128810;2164994;5016197;5038486 1930;D12S1499;D12S1649;G60068;G64501;SHGC-37256;SHGC-80813;U28794;WI-14580 MAN1 LEM domain-containing protein 3;OTTHUMP00000239603;inner nuclear membrane protein Man1;integral inner nuclear membrane protein APPROVED protein-coding ENSG00000174106 HGNC:28887 09704 155950;166700;607844 REVIEWED 69166 LENEP lens epithelial protein The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. [provided by RefSeq, Jul 2008] 1 1 1 q22 128037086 128037815 + 154966062 154966791 + 154993586 154994315 + 68892;1580863;6480464;8554872 10655141 11376938;12477932;15489334;16710414;23535732;7641850;8889548 55891 Q9Y5L5 AB451457;ABBA01016723;AF144412;AF268478;AL451085;AMYH02001936;BC069140;BC096714;BC098148;BC098246;BC098253;BM716801;CH471121;NM_018655 AAD38378;AAF73074;AAH69140;AAH96714;AAH98148;AAH98246;AAH98253;BAG70271;EAW53152;NP_061125;Q9Y5L5 Hs.272399 2157760;2220372;5493045 RH64598;UniSTS:480850;UniSTS:484009 LEP503 OTTHUMP00000035554;lens epithelial cell protein LEP503 APPROVED protein-coding ENSG00000163352 HGNC:14429 09569 607377 REVIEWED 1317415 LENG1 leukocyte receptor cluster (LRC) member 1 INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; disodium selenite 19 19 19 q13.4 51700663 51704732 - 54659377 54663446 - 54155639 54159708 - 6480464 10941842;12477932;15489334;16169070;21832049;21900206;24250222;24816145 79165 Q96BZ8 ABBA01068172;AC012314;AC245052;AF211966;BC014986;BP870984;CH471135;CU151838;CU457734;NM_024316 AAG01393;AAH14986;ABM83146;ABM86343;ABM86344;EAW72195;NP_077292;Q96BZ8 Hs.590974 1697682;1805324;1818290;1823866;1825348;1826426;1826884;1828446;1838472;2041430;2041432;2041434;2041436;2041438;2041440;2041442;2041444;2041446;2041448;2041450;2041452;2041454;2041456;2041458;2041460;2041462;2041464;2041466;2041468;2041470;2041472;2041474;2041476;2041478;2041480;2041482;2103632;2103634;2103636;2106999 CNOT3_7840;ECD03609;ECD10202;ECD13025;ECD13780;ECD14327;ECD14557;ECD15349;ECD20410;REN91750;REN91751;REN91752;REN91753;REN91754;REN91755;REN91756;REN91757;REN91758;REN91759;REN91760;REN91761;REN91762;REN91763;REN91764;REN91765;REN91766;REN91767;REN91768;REN91769;REN91770;REN91771;REN91772;REN91773;REN91774;REN91775;REN91776;RH102357;stSG605833;stSG605834;stSG605835 OTTHUMP00000069306;leukocyte receptor cluster member 1 protein-coding HGNC:15502 13985 VALIDATED 1350052 LENG10 leukocyte receptor cluster (LRC) member 10 q13.4 10941842 94057 AF211977 Hs.684553 protein-coding HGNC:16308 1353076 LENG11 leukocyte receptor cluster (LRC) member 11 q13.4 10941842 94058 AF211978 protein-coding HGNC:16307 1344892 LENG3 leukocyte receptor cluster (LRC) member 3 q13.4 10941842 79164 AF211968 Hs.631579 protein-coding HGNC:15498 1345619 LENG6 leukocyte receptor cluster (LRC) member 6 q13.4 10941842 79163 AF211971 protein-coding HGNC:15499 1314652 LENG8 leukocyte receptor cluster (LRC) member 8 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; benzo[a]pyrene 19 19 19 q13.42 52000644 52013775 + 54959605 54973196 + 54448427 54462016 + 6480464;8554872 10941842;11572484;12477932;15146197;16189514;16239144;16344560;16713569;17567994;19060904;20936779;21145461;23455924;24250222;24457600;2470348 114823 B0VJY8;C9J1N5;C9JMY0;E7EWC7;H7BZP5;Q96PV6 AB067519;ABBA01068157;AC008746;AC245884;AF211973;AF211974;AF211975;AF318338;AL834532;BC028048;BM969015;CH471135;CN403513;CU207370;CU467002;DB284556;HY032958;NM_052925;X58237;XM_005258481;XM_005258482;XM_005258483;XM_005258484;XM_005258485;XM_005258486;XM_005277061;XM_005277062;XM_005277063;XM_005277065;XM_005277239;XM_005277240;XM_005277241;XM_005277242;XM_005277243;XM_005277244;XM_005278248;XM_005278249;XM_005278250;XM_005278252;XM_006722996;XM_006722997;XM_006726185;XM_006726186;XM_006726267;XM_006726268;XM_006726305;XM_006726306 AAH28048;AAL55845;ABM83630;ABM85179;ABM86874;ABW03700;BAB67825;CAD39188;EAW72248;EAW72249;EAW72250;NP_443157;Q96PV6;XP_005258538;XP_005258539;XP_005258540;XP_005258541;XP_005258542;XP_005258543;XP_005277118;XP_005277119;XP_005277120;XP_005277122;XP_005277296;XP_005277297;XP_005277298;XP_005277299;XP_005277300;XP_005277301;XP_005278305;XP_005278306;XP_005278307;XP_005278309;XP_006723059;XP_006723060;XP_006726248;XP_006726249;XP_006726330;XP_006726331;XP_006726368;XP_006726369 Hs.502378;Hs.744596 1802542;1802914;1804338;1804952;1808516;1810620;1811452;1814192;1816752;1817292;1818434;1818800;1819116;1819904;1822370;1828674;2043674;2043676;2043678;2043680;2043682;2043684;2043686;2043688;2043690;2043692;2043694;2043696;2043698;2043700;2043702;2043704;2043706;2043708;2043710;2043712;2043714;2043716;2043718;2043720;2043722;2043724;2043726;2043728;2043730;2043732;2043734;2043736;2043738;2043740;2043742;2043744;2043746;2043748;2043750;2043752;2043754;2043756;2043758;2043760;2043762;2043764;2043766;2043768;2043770;2043772;2043774;2043776;2043778;2043780;2043782;2043784;2043786;2043788;2043790;2043792;2043794;2043796;2043798;2043800;2043802;2043804;2103976;2103978;2103980;2103982;2103984;2103986;2103988;2103990;2103992;2103994;2103996;5111901 ECD02157;ECD02346;ECD03093;ECD03416;ECD05240;ECD06303;ECD06725;ECD08125;ECD09420;ECD09696;ECD10276;ECD10464;ECD10624;ECD11023;ECD12273;ECD15464;G42657;REN92887;REN92888;REN92889;REN92890;REN92891;REN92892;REN92893;REN92894;REN92895;REN92896;REN92897;REN92898;REN92899;REN92900;REN92901;REN92902;REN92903;REN92904;REN92905;REN92906;REN92907;REN92908;REN92909;REN92910;REN92911;REN92912;REN92913;REN92914;REN92915;REN92916;REN92917;REN92918;REN92919;REN92920;REN92921;REN92922;REN92923;REN92924;REN92925;REN92926;REN92927;REN92928;REN92929;REN92930;REN92931;REN92932;REN92933;REN92934;REN92935;REN92936;REN92937;REN92938;REN92940;REN92941;REN92942;REN92943;REN92944;REN92945;REN92946;REN92947;REN92948;REN92949;REN92950;REN92951;REN92952;REN92953;stSG606070;stSG606073;stSG606074;stSG606075;stSG606076;stSG606077;stSG606078;stSG606079;stSG606080;stSG606081;stSG606082 KIAA1932;MGC40108;pp13842 OTTHUMP00000068189;OTTHUMP00000199725;OTTHUMP00000211766;leukocyte receptor cluster member 8 protein-coding ENSG00000167615 HGNC:15500 11226 VALIDATED 1317999 LENG9 leukocyte receptor cluster (LRC) member 9 ENCODES a protein that exhibits catalytic activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog); ciguatoxin CTX1B (ortholog) 19 19 19 q13.4 52013555 52015473 - 54972976 54974894 - 54461796 54463711 - 1580863;6480464;8554872 10941842;12477932;15489334;21906983;21963094 94059 Q96B70 ABBA01068157;AC008746;AC245884;AF211976;BC015921;CA450132;CH471135;CU207370;CU467002;NM_001301782;NM_198988 AAH15921;EAW72251;NP_001288711;NP_945339;Q96B70 Hs.590976 1805106;1806698;1806946;1819904;1828982;2043798;2043800;2043802;2043804;2043806;2043808;2043810;2043812;2043814;2043816;2043818;2043820;2043822;2043824;2043826;2043828;2043830;2103998 ECD03495;ECD04306;ECD04438;ECD11023;ECD15618;REN92950;REN92951;REN92952;REN92953;REN92954;REN92955;REN92956;REN92957;REN92958;REN92959;REN92960;REN92961;REN92962;REN92963;REN92964;REN92965;REN92966;stSG606083 OTTHUMP00000068392;leukocyte receptor cluster member 9 protein-coding ENSG00000275183 HGNC:16306 13986 VALIDATED 1602075 LEO1 Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008] 15 15 15 q21.2 29123636 29157376 - 52230222 52263995 - 51938025 51971801 - 6480464 12477932;14702039;15302935;15489334;15632063;15791002;15923622;16307923;16630820;16964243;17081983;17620599;18029348;18469135;19136632;19345177;19471022;20178742;20196086;20305087;20541477;21139048;21252943;21406692;21726809;21890473;21906983;22113938;22451921;22505724;22532828;22863883;22939629;23667531;23891004;24038468;24360965;24686170;24816145 123169 Q8WVC0 ABBA01039074;ABBA01039075;ABBA01039076;AC090971;AK055762;AK297972;AMYH02030441;AY302186;BC018147;CH471082;NM_001286430;NM_138792 AAH18147;AAP68819;BAB71006;BAG60282;EAW77432;EAW77433;NP_001273359;NP_620147;Q8WVC0 Hs.567662 2116889;2153847 RH47199;RH67897 RDL OTTHUMP00000162667;RNA polymerase-associated protein LEO1;replicative senescence down-regulated leo1-like protein;replicative senescence downregulated leo1-like;senescence downregulated leo1-like APPROVED protein-coding ENSG00000166477 HGNC:30401 11231 610507 VALIDATED 69123 LEP leptin This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Jul 2008] 7 7 7 q31.3 122684619 122700967 + 127881241 127897682 + 128241189 128257629 + 1625125;1331525;1580863;1357910;1357909;1643130;2311130;2311134;2311137;2311132;2311124;2311125;2311127;2311131;2311126;2311140;5128777;5128781;5128870;5128772;5128788;5128629;5128846;5128513;5128624;5128771;5128780;5128850;5128676;5128815;5128551;5128697;5128844;5128589;5128875;5128817;5128818;5128549;5128819;5128823;5128507;5128773;5128517;5128869;5128871;5128778;5128597;5128713;5128718;5128579;5128547;6480464;6484113;6909133;6907045;6907074;6907119;7240710;8699517;8694425;8694468;8554872 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3952 A4D0Y8;P41159 ABBA01057678;AC018635;AC018662;AF008123;AK313553;AMYH02016714;AY996373;BC060830;BC069323;BC069452;BC069527;BU752306;CH236947;CH471070;D49487;D63519;D63710;DA762132;DQ054472;NG_007450;NM_000230;U18915;U43415;U43653;XM_005250340 AAA60470;AAB63507;AAC31660;AAC50400;AAH60830;AAH69323;AAH69452;AAH69527;AAX81413;AAY46797;ADQ32891;BAA08448;BAA09787;BAA09839;BAG36329;EAL24315;EAW83640;NP_000221;P41159;XP_005250397 Hs.194236 1666918;2132298;2132300;5037552 D8S2279;OBS;RH70631;STS-U43653 FLJ94114;LEPD;OB;OBS OTTHUMP00000212285;leptin (murine obesity homolog);leptin (obesity homolog, mouse);obese protein;obese, mouse, homolog of;obesity factor 1643260;1643439;1643497;1643500;1643511;2289166;2289223 BW101_H;BW191_H;BW256_H;BW257_H;BW258_H;SLEP5_H;SLEP9_H APPROVED protein-coding ENSG00000174697 HGNC:6553 01249 164160;614962 REVIEWED 735832 LEPR leptin receptor The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010] 1 1 1 p31 64176916 64393787 + 65886335 66103176 + 65420652 65637493 + 1600611;1600612;1581846;1331525;1625125;1580863;1357910;1357909;2311129;2311144;729297;2311138;2311139;2311141;2311142;5129122;5128846;5129123;5129163;5128855;5128823;5128813;5129161;5128873;5129154;5128718;6480464;6907045;7240710;8699517;8554872;5128773 10999797;11460888;11896492;12079865;15118671;15284063;15703762;16021089;17010638;17065694;17229951;18006469;18204169;18413223;18439701;18469142;18564365;18632178;19196818;19337797;20422702;20592105;21148797;21317313;8702432;8841178 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3953 A2RRQ4;P48357;Q4G138 AA813024;ABBA01074542;ABBA01074543;AC097063;AC119800;AI436180;AK001042;AK290208;AMYH02001180;AMYH02001181;AMYH02001182;AMYH02001183;AMYH02001184;AW302522;BC031086;BC035120;BC131779;BX475249;CQ860097;NG_015831;NM_001003679;NM_001003680;NM_001198687;NM_001198688;NM_001198689;NM_002303;U43168;U50748;U52912;U52913;U52914;U59263;U66495;U66496;U66497 AAA93015;AAB07495;AAB07496;AAB07497;AAB09673;AAC23650;AAC50509;AAC50510;AAC50511;AAH31086;AAI31780;AAI60009;BAF82897;CAH25983;NP_001003679;NP_001003680;NP_001185616;NP_001185617;NP_001185618;NP_002294;P48357 Hs.23581;Hs.723178 1667902;1672969;1680799;1693058;1698160;1725781;1750061;1767893;1790377;1793324;1793966;1797934;1853853;1853855;2110547;2113238;2114845;2122315;2159694;2162897;2183596;2218784;5107070 A005R18;AL009879;AL034254;D1S3710;D1S3711;G20438;G62073;LEPR-2;LEPR_4006;MARC_46109-46110:1108421773:4;OBRGRP_2328;PMC209419P1;PMC310709P1;RH102615;RH68452;RH79027;RH80929;SHGC-112228;SHGC-32733;SHGC-56809;SHGC-74936;SHGC-74948;SHGC-74954 CD295;DKFZp686B1731;LEP-R;LEPRD;OB-R;OBR;huB219 OB receptor;OTTHUMP00000010692;OTTHUMP00000010693;OTTHUMP00000010694;OTTHUMP00000010695 2289443;2316884 BW413_H;GLUCO303_H APPROVED protein-coding ENSG00000116678 HGNC:6554 03001 601007;614963 REVIEWED 1353937 LEPROT leptin receptor overlapping transcript LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010] 1 1 1 p31.3 64176916 64192274 + 65886131 66107242 + 65420448 65436007 + 737633;1580863;6480464 12477932 14702039;15489334;16303743;16712791;18042720;19322201;19907080;19913121;20416077;20624279;20628086;8889548;9207021 54741 O15243 ABBA01074543;AC119800;AK023598;AK026175;AK074841;AK094801;AK130096;AK309370;AMYH02001180;BC011027;BC036581;BC056250;BC140007;BI715133;BU677319;BX360952;CA434795;CB140261;CH471059;CQ783702;CQ860091;CQ878351;CR541647;CR541737;HH768651;NG_015831;NM_001198681;NM_001198683;NM_017526;Y12670 AAH11027;AAH56250;ACE86923;ACE87610;BAG52014;CAA73211;CAF86819;CAG46448;CAG46537;CAH25980;CAH59519;CBX85065;EAX06527;EAX06531;NP_001185610;NP_001185612;NP_059996;O15243 Hs.23581;Hs.258228 1667902;1672969;1680799;1698160;1725781;1767893;1797934;1853853;1853855;2122315;2159694;5022200;5037552 A005R18;D8S2279;G20438;G62073;L18426;OBRGRP_2328;RH102615;RH68452;RH79027;RH80929;SHGC-32733;SHGC-74936;SHGC-74954 FLJ37482;FLJ90360;LEPR;OB-RGRP;OBRGRP;VPS55 DnaJ (Hsp40) homolog, subfamily C, member 6;OB-R gene-related protein;OTTHUMP00000010632;endospanin-1;leptin receptor gene related protein;leptin receptor gene-related protein;leptin receptor overlapping transcript protein APPROVED protein-coding ENSG00000213625 HGNC:29477 13987 613461 VALIDATED 1602868 LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011] 1 1 1 p34.1 41493937 41514687 - 43212006 43232755 - 42746335 42767084 - 6480464;7240710;8554872;8699517 10455179;10951563;12477932;14702039;15044469;15489334;16303743;16396496;17277775;18566967;18996919;19056867;19088120;19615732;19846465;19862557;19946888;20000738;20360068;20946018;21139048;21145461;21150319;21667357;21890473;21942715;22268729;22281939;22615817;22863883;24043621;24250222;24550385 64175 E2QRI1;H7C0D1;H7C2W6;Q32P28 ABBA01050974;AC098484;AF097431;AF097432;AK025841;AK027648;AK027680;AK027697;AK075418;AK297980;AK300210;AMYH02000884;AMYH02000885;BC004160;BC015309;BC068461;BC091513;BC108311;BC143961;BC143962;BE675748;BT007039;CH471059;CR749690;CS051227;DC404420;KF495923;NG_008123;NM_001146289;NM_001243246;NM_022356;R67284;XM_005271110 AAG31018;AAG31019;AAH15309;AAI08312;AAP35688;BAB15256;BAB55264;BAB55291;BAB55305;BAC11608;BAG60290;BAG61980;CAH18474;CAI72109;EAX07142;EAX07143;EAX07144;EAX07145;NP_001139761;NP_001230175;NP_071751;Q32P28;XP_005271167 Hs.720014 1661397;1732888;1773511;1781376;2108807;2164406;5020740;5024413;5037552;5094854 D1S1307;D1S3562;D8S2279;L17809;L17877;LEPRE1;LEPRE1__6385.2;SHGC-106195;SHGC-2670;SHGC-74679 GROS1;MGC117314;OI8;P3H1 OTTHUMP00000008735;OTTHUMP00000008736;growth suppressor 1;leprecan;leucine- and proline-enriched proteoglycan 1;prolyl 3-hydroxylase 1 APPROVED protein-coding ENSG00000117385 HGNC:19316 11227 610339;610915 REVIEWED 2293112 LETM1P1 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 1 15 15 15 q22.31 43989202 43991304 + 67100905 67103007 + 66808567 66810669 + 11549311 390597 ABBA01038807;AC110048;AMYH02030658;NG_007651 pseudo HGNC:14649 INFERRED 1312081 LEPREL1 leprecan-like 1 This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 3 3 3 q28 188102461 188268906 - 189674517 189840226 - 189956728 190122437 - 1580863;6480464;8699517;7240710;8554872 10449603;12477932;14702039;15044469;15063763;15489334;16344560;18487197;18519826;19436308;20379614;21757687;21885030;21963094;8889548 55214 C9J313;C9JSL4;Q8IVL5 ABBA01058331;ABBA01058332;ABBA01058333;ABBA01058334;ABBA01058335;ABBA01058336;AC016966;AC063939;AC099660;AJ430351;AK001580;AK056447;AK125134;AMYH02008401;AMYH02008402;AMYH02008403;BC005029;BU621129;BU737886;CH471052;DA720646;DA879789;JC258723;JC303362;NG_031929;NM_001134418;NM_018192 AAH05029;ADZ15758;BAA91769;BAG51712;BAG54151;CAD23039;CDM55389;CDM55570;EAW78109;EAW78110;EAW78111;NP_001127890;NP_060662;Q8IVL5 Hs.374191 1334702;1680335;1681995;1707772;1855302;2147548 D3S1661;D3S2379;RH65174;RH93767;SHGC-82105;STS-N21495 FLJ10718;MCVD;MLAT4;P3H2 OTTHUMP00000209728;OTTHUMP00000209729;leprecan-like protein 1;myxoid liposarcoma associated protein 4;myxoid liposarcoma-associated protein 4;prolyl 3-hydroxylase 2;prolyl 3-hydroxylase 3 APPROVED protein-coding ENSG00000090530 HGNC:19317 17270 610341;614292 REVIEWED 732924 LEPREL4 leprecan-like 4 This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36609515 36619798 - 39958204 39968881 - 41801952 41812629 - 6480464 10952778;12477932;14702039;15489334;15717329;16341674;16396496;20618440;21693764;21963094;23144993;24324551;8125298;8862517 10609 H0YED7;K7EJ03;K7ERA3;Q92791 ABBA01006450;ABBA01006451;AC091172;AC109319;AJ250583;AK056016;AK056085;AK222945;AK301301;AMYH02033413;BC001047;BC007942;BC011701;BM834302;CH471152;NM_006455;U47621;XM_005256952;XM_005256953;XM_006721640 AAC51792;AAH01047;AAH07942;AAH11701;ABM84524;ACE86453;ACE87129;BAD96665;BAG62857;CAC16786;EAW60766;NP_006446;Q92791;XP_005257009;XP_005257010;XP_006721703 Hs.446459 2108901;5016781;5020881;5109281 D1S1425;L17709;SC65_9155;SHGC-67307 NO55;NOL55;SC65 OTTHUMP00000164758;leprecan-like protein 4;nucleolar autoantigen (55kD);nucleolar autoantigen No55;nucleolar autoantigen, 55kDa;synaptonemal complex protein SC65 APPROVED protein-coding ENSG00000141696 HGNC:16946 10126 VALIDATED 2293160 LETM1P2 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 2 19 19 19 q13.43 55599297 55603108 + 58555808 58559619 + 58044440 58048251 + 100131934 ABBA01020786;AC008751;AMYH02036527;NG_007659 1709198 SHGC-85778 pseudo HGNC:33985 INFERRED 2306324 LETM1P3 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 3 8 8 8 q22.2 96893919 96896507 + 100708160 100710748 + 99695932 99698520 + 100151646 ABBA01037558;AC018442;AMYH02018496;NG_007658 pseudo HGNC:33986 INFERRED 1316198 LEPROTL1 leptin receptor overlapping transcript-like 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; atrazine; benzene 8 8 8 p12 28912217 28954626 + 29952922 29995222 + 30095406 30137706 + 1580863;6480464 11042152;11342119;12477932;12975309;15489334;16189514;16303743;16344560;19322201;19876004;19907080;20734064;23793025 23484 C9JVM4;E5RHU8;E5RIL0;E5RIQ0;E5RJS9;H0YBC1;O95214;Q6FHL7 ABBA01023671;ABBA01023672;AC026979;AC044849;AF063605;AF161461;AK075363;AMYH02017711;AY277595;AY358674;BC000642;CH471080;CQ860103;CQ878348;CR541735;CR541760;CS051155;DA258969;HH768647;NM_001128208;NM_015344 AAC98697;AAF29076;AAH00642;AAQ18034;AAQ89037;ABM82823;ABM86009;BAG52122;CAG46535;CAG46560;CAH25986;CAH59518;CAI72073;CBX85063;EAW63468;EAW63469;EAW63470;NP_001121680;NP_056159;O95214 Hs.146585 1656481;1668100;1672448;1672450;1709546;1739363;1770401;2109465;2122551;2145521;2173260;2173262;2178670 A006J29;D8S1575E;D8S1609;D8S1922;D8S2128;G20874;HUM0S15F11;LEPROTL1_9353;RH47165;SGC32717;SHGC-81858;STS-AA029270;WI-20351 HSPC112;Vps55;my047 OTTHUMP00000225045;OTTHUMP00000225046;OTTHUMP00000225061;OTTHUMP00000225062;OTTHUMP00000225063;endospanin-2 protein-coding ENSG00000104660 HGNC:6555 09551 607338 VALIDATED 1344708 LETMD1 LETM1 domain containing 1 This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011] 12 12 12 q13.12 50244071 50256194 + 51442082 51454207 + 51048299 51067374 + 2314918;2314917;6480464 12879013 12061725;12477932;14691448;14702039;16278390;16344560;16762630;16934181;16949218;17207965;18045496;19208263;19435525;20196787;20423485;20591135;20877624;21138632;21832049;21963094;22511601;22851403;24126909;8125298 25875 F8VP71;F8VPY5;F8VQE7;F8VR33;F8VR35;F8VS60;F8VTR1;F8VUZ8;F8VVQ3;F8VXQ4;F8VZA2;F8W0R0;F8W1U1;F8W1Z2;F8W6J0;F8WCD9;H0YH93;H0YHF4;H0YIV5;Q6P1Q0 ABBA01031594;ABBA01031595;AC087884;AF195651;AF315598;AF329277;AI313513;AK000639;AK057866;AK123080;AK126372;AK127540;AK225836;AK301898;AK301955;AK304707;AK315119;AL050286;AMYH02026478;AY259835;AY259836;BC000395;BC019274;BC064943;BM549678;BM998643;BX343550;BX376670;CH471111;DA682074;DC357852;NG_029858;NM_001243689;NM_001300765;NM_015416;NR_045017;NR_045018;NR_045019;NR_045020;XM_006719333;XM_006719334;XM_006719335;XM_006719336;XM_006719337;XM_006719338;XM_006719339;XM_006719340;XR_429089 AAH00395;AAH19274;AAH64943;AAK34885;AAL26878;AAL56993;AAP85624;AAP85625;ADQ32592;BAG37574;BAG54519;BAH13580;BAH13594;BAH14243;CAB43387;EAW58166;EAW58167;EAW58168;EAW58169;EAW58170;EAW58171;EAW58172;NP_001230618;NP_001287694;NP_056231;Q6P1Q0;XP_006719396;XP_006719397;XP_006719398;XP_006719399;XP_006719400;XP_006719401;XP_006719402;XP_006719403 Hs.655272 2129301;2162013;5016478;5022322;5022578;5022588 D11S2560;D12S1202E;D1S1423;D5S1597E;GDB:434012;RH44490 1110019O13Rik;DKFZp586A011;HCCR-1;HCCR-2;HCCR1;HCRR-2 LETM1 domain-containing protein 1;OTTHUMP00000241484;OTTHUMP00000241486;OTTHUMP00000241487;OTTHUMP00000241488;OTTHUMP00000241490;OTTHUMP00000241491;OTTHUMP00000241494;cervical cancer 1 proto-oncogene protein p40;cervical cancer 1 protooncogene;cervical cancer proto-oncogene 2 protein;regulator of TP53 APPROVED protein-coding ENSG00000050426 HGNC:24241 09978 REVIEWED 1322565 LETM2 leucine zipper-EF-hand containing transmembrane protein 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 8 8 8 p11.23 37197089 37219038 + 38240041 38267045 + 38382563 38409527 + 6480464;8554872 11549311;12477932;18628306;21832049;8889548 137994 A8K1M9;E5RJN4;E5RK40;E9PIC7;E9PMA4;E9PN52;H0YCZ8;Q2VYF4 ABBA01023533;ABBA01023534;ABBA01023535;ABBA01023536;AC087362;AC087623;AK058138;AK289944;AK302317;AK302474;AL832241;AMYH02017830;AY173945;BC024250;BC029541;BC069830;CB242043;CH471080;DC398640;NM_001199659;NM_001199660;NM_001286787;NM_001286819;NM_001286821;NM_144652;XM_005273407;XM_006716289;XM_006716290;XM_006716291 AAH29541;AAO49715;BAB71680;BAF82633;BAG63655;BAH13720;EAW63317;EAW63318;NP_001186588;NP_001186589;NP_001273716;NP_001273748;NP_001273750;NP_653253;Q2VYF4;XP_005273464;XP_006716352;XP_006716353;XP_006716354 Hs.696457;Hs.734005 1729570;2116658 D8S135;STS-Z40977 FLJ25409 LETM1 and EF-hand domain-containing protein 2;LETM1 domain-containing protein LETM2, mitochondrial;OTTHUMP00000228314;OTTHUMP00000228348;OTTHUMP00000228407;OTTHUMP00000228416;OTTHUMP00000228417;leucine zipper-EF-hand containing transmembrane protein 1-like protein;leucine zipper-EF-hand-containing transmembrane protein 1-like protein-coding ENSG00000165046 HGNC:14648 08060 VALIDATED 2289877 LEUTX leucine twenty homeobox ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 19 19 19 q13.2 37068806 37078345 + 40267234 40276775 + 39776594 39786135 + 11181995;17963489;20379614 342900 A8MZ59 ABBA01040734;AC005393;AC244229;CH471126;CR746510;NM_001143832 A8MZ59;EAW56915;NP_001137304 Hs.451638 arginine-fifty homeobox-like pseudogene;hCG1657112;leucine-twenty homeobox;putative leucine-twenty homeobox protein-coding ENSG00000213921 HGNC:31953 PROVISIONAL 1313881 LEPREL2 leprecan-like 2 The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013] 12 12 12 p13 8554854 8566302 + 6937572 6949018 + 6828373 6839854 + 1580863;6480464;8554872 12477932;14702039;15044469;15489334;19204726;19436308;19773279;21139048;22437554;8723724;9074930 10536 Q8IVL6 AB209320;ABBA01017661;ABBA01017662;AJ430349;AK025976;AK096771;AK126766;AK297917;AMYH02025956;BC017217;BC067251;BC080630;BQ009002;CH471116;KF459681;NG_033740;NM_014262;U47924;U47926 AAB51312;AAC50464;AAH17217;AAH67251;AAH80630;AAI56267;AAI57129;BAD92557;BAG60235;CAD23037;EAW88731;EAW88732;EAW88733;EAW88734;NP_055077;Q8IVL6 Hs.631655 2125009;2125773;2144935;2152467;2219102;2219898 GRCA__6662;LEPREL2__6387;SHGC-12737;STS-U47924;STS-U47926;WI-21968 GRCB;HSU47926;P3H3 B protein;OTTHUMP00000238901;gene rich cluster, B;leprecan-like 2 protein;leprecan-like protein 2;prolyl 3-hydroxylase 3;protein B APPROVED protein-coding ENSG00000110811 HGNC:19318 10039 610342 REVIEWED 1350319 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase This gene is a member of the fringe gene family which also includes radical and manic fringe genes. They all encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. This gene product is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 7 7 7 p22.2 2521470 2538114 + 2552163 2568811 + 2512529 2529177 + 1302739;1580863;2302204;6480464;6907045;7240710;8554872;8699517 17761886;9187150 10341080;10935626;11346656;12110169;12477932;12486116;14702039;16341674;16385447;19020755;19061953;20301533;20301771;21832049;22624713;24250222;9878264 3955 Q8NES3 ABBA01039376;ABBA01039377;ABBA01039378;AC092488;AF193612;AK096284;AMYH02015075;AY124582;BC014851;BM854210;CH236953;CH471144;NG_008109;NM_001040167;NM_001040168;NM_001166355;NM_002304;U94354 AAC51360;AAF07187;AAH14851;AAM93542;BAG53248;EAW87250;EAW87251;EAW87252;EAW87253;EAW87254;NP_001035257;NP_001035258;NP_001159827;NP_002295;Q8NES3 Hs.159142 1739093;1739583;1769292;2191577 D7S2257;D7S2382E;MARC_26643-26644:1036437678:1;WI-15937 SCDO3 OTTHUMP00000201070;OTTHUMP00000201071;OTTHUMP00000201072;OTTHUMP00000201073;beta-1,3-N-acetylglucosaminyltransferase lunatic fringe;lunatic fringe homolog (drosophila) APPROVED protein-coding ENSG00000106003 HGNC:6560 602576;609813 REVIEWED 1352340 LETM1 leucine zipper-EF-hand containing transmembrane protein 1 This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009] 4 4 4 p16.3 1725718 1769826 - 1813206 1857974 - 1811479 1856247 - 1580863;6480464 10486213;12477932;12665801;14706454;15138253;15489334;17606466;17925330;18029348;18628306;19168126;19318571;19797662;20186120;20824095;20877624;21613221;21815251;21890473;21903422;22641639;22939629;23000965;23716663;23874603;24250222;24255178;24344246;24816145;24898248 3954 O95202 ABBA01029525;ABBA01029526;ABBA01029527;AC105448;AF061025;AK293572;AK310563;AL133650;AMYH02008592;AMYH02008593;BC014500;BC021208;CH471131;NG_013063;NM_012318;XM_005247970;XM_006713884 AAD13138;AAH14500;AAH21208;ABM84532;BAG57043;CAB63769;EAW82560;EAW82561;NP_036450;O95202;XP_005248027;XP_006713947 Hs.120165 1666555;5109281;5115041 D1S1425;RH41928;SHGC-24744 LETM1 and EF-hand domain-containing protein 1, mitochondrial;Mdm38 homolog;OTTHUMP00000149960;leucine zipper-EF-hand-containing transmembrane protein 1 APPROVED protein-coding ENSG00000168924 HGNC:6556 05101 604407 REVIEWED 2303655 LGALS17A Charcot-Leyden crystal protein pseudogene 19 19 19 q13.2 36971581 36978580 + 40170014 40177013 + 39679374 39686373 + 12477932;19497882;23251661;23894747 400696 Q6ZW74 ABBA01040734;AC005515;AK123499;AMYH02036100;BC118595;BC122559;BC128606;FJ613353;FJ613354;NR_034156 AAI18596;AAI22560;AAI28607;ACR09653;ACR09654;BAC85631 Hs.456377 eosinophil lysophospholipase-like;hypothetical protein LOC400696 APPROVED pseudo ENSG00000226025 14221 VALIDATED 1344564 LGALS13 lectin, galactoside-binding, soluble, 13 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 36894885 36899830 + 40093169 40098114 + 39602529 39607474 + 1580863;6480464 10395961;10527825;10571079;11742106;12459492;12477932;15009185;15193867;15489334;17207965;17618748;18186153;18539259;18791734;19087972;19497882;19777530;19813218;19818512;19844942;20509161;21257080;21257081;21596368;21652068;21799738;22015022;22460234;23088713;23406577;23729534;6856484 29124 M0R015;Q9UHV8 ABBA01040734;AC005205;AF117383;AM259729;AMYH02036099;AY055826;BC066304;BC069312;CH471126;FJ613336;FJ613337;FJ613338;HC007070;HC044563;NM_013268 AAF22001;AAH66304;AAH69312;AAL09162;ACR09638;ACR09639;ACR09640;ADQ32924;CAJ97436;CBH19340;CBH30611;EAW56910;NP_037400;Q9UHV8 Hs.23671 2119333 STS-R31571 GAL13;PLAC8;PP13;gal-13 beta-galactoside-binding lectin;galactoside-binding soluble lectin 13;galectin 13;galectin-13;lectin, galactoside-binding, soluble, 13 (galectin 13);placental protein 13;placental tissue protein 13 APPROVED protein-coding ENSG00000105198 HGNC:15449 16375 608717 REVIEWED 1352457 LGALS3BP lectin, galactoside-binding, soluble, 3 binding protein The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq, Jul 2008] 17 17 17 q25 73565513 73574236 - 76967335 76976061 - 78971253 78979979 - 1580863;6480464 10077627;11146440;11867635;11980646;12477932;12754519;14702039;14758079;15084671;15231701;15231747;15489334;16335952;16502470;16518858;16740002;17091455;17091456;17131321;17255364;17353931;17949550;18029348;18450743;18490383;18594176;18646789;18775313;19017490;19056867;19153476;1917996;19291534;19544526;20000738;20019050;20237496;20360068;20581239;20583127;21081666;21094132;21139048;21145461;21474793;21515679;21660451;21890473;21963094;21987572;22190034;22268729;22447108;22496229;22797925;22810585;22864925;22939624;22939629;22970241;23156545;23184915;23233740;23438482;23443559;23667531;23830458;24156545;24302979;24778252;7583357;7698018;8034587;8390986;8813152;9013622;9495353;9501082 3959 B4DWA8;K7EJD3;K7EJY8;K7EKQ5;K7ELA1;K7EM15;K7EN99;K7EP36;K7EQT9;K7ER67;K7ERZ6;K7ES75;K7ESM3;Q08380 ABBA01002910;ABBA01199134;AC100788;AK055977;AK057776;AK293183;AK295442;AK301040;AK301444;AK307665;AMYH02034079;AMYH02034080;BC002403;BC002998;BC015761;BQ649131;CH471099;L13210;NM_005567;X79089 AAA36193;AAH02403;AAH02998;AAH15761;ABM83150;ABM86350;BAG51600;BAG56725;BAG58382;BAG62653;BAG62970;CAA55699;EAW89543;EAW89544;EAW89545;EAW89546;NP_005558;Q08380 Hs.514535 1681726;1796246 LGALS3BP_181;RH80064 90K;BTBD17B;CyCAP;M2BP;MAC-2-BP;MAC2BP;TANGO10B;gp90;mac-2 BP L3 antigen;Mac-2-binding protein;basement membrane autoantigen p105;galectin-3-binding protein;lectin galactoside-binding soluble 3-binding protein;serum protein 90K;transport and golgi organization 10 homolog B;tumor-associated antigen 90K APPROVED protein-coding ENSG00000108679 HGNC:6564 02796 600626 REVIEWED 1602105 LGALS14 lectin, galactoside-binding, soluble, 14 This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 36996513 37001655 + 40194946 40200088 + 39704306 39709448 + 6480464;8554872 11997112;12477932;15489334;16831268;17207965;17975119;19023099;19497882 56891 M0R163;Q8TCE9 ABBA01040734;AC006133;AF123762;AF267852;AF367430;AF367431;AF367432;AI167958;AK312040;AMYH02036100;BC022257;BG434228;BQ007347;CH471126;FJ613341;FJ613342;HC044597;NM_020129;NM_203471 AAF78953;AAH22257;AAK56284;AAK56285;AAK56286;AAP97241;ACR09643;ACR09644;ADQ32203;BAG34977;CBH30628;EAW56912;EAW56913;NP_064514;NP_982297;Q8TCE9 Hs.24236 1712198;2171711 G54150;SHGC-34102 CLC2;MGC22235;PPL13;gal-14 Charcot-Leyden crystal protein 2;galectin-14;placental protein 13-like APPROVED protein-coding ENSG00000006659 HGNC:30054 06268 607260 REVIEWED 1347735 LGALS1 lectin, galactoside-binding, soluble, 1 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 21873464 21877660 + 38071613 38075809 + 37675606 37679802 + 1580863;2316551;2316526;2316550;6480464 16733672;18225978;19079321 10369126;10425546;10490978;10591208;10642604;10764829;10950114;11076863;11146440;11256614;11522829;11709720;11846886;11850528;11937561;12008046;12125737;12271131;12477932;12527107;12615972;12665801;12761501;12810474;12823983;12853445;14507657;14550305;14612929;14617626;14693917;14769876;15050916;15297883;15461802;15489334;15489336;15556936;15556941;15663199;15690107;15778371;15862866;15910247;15929990;15972675;1602151;16033063;16051185;16130169;16247730;16381901;16388708;16530434;16636291;16751364;16785517;16818733;16940423;17043243;17110462;1713454;17177840;17182582;17269744;17304502;17353931;17390012;17438085;17523619;17535296;17537433;17603562;17616672;17649808;17880528;17884770;17984174;18007053;18028978;18223683;18258591;18292532;18315601;18431251;18519761;18570123;18581052;18624398;18630998;18633135;18662664;18671640;18691335;18791848;18796645;18802059;18824694;18838383;18947333;18991278;19011096;19032754;19064001;19103599;19116313;19125585;19128029;19148478;19155496;19171142;19225046;19287070;19287997;19363525;19412433;19454697;19471022;19492862;19506091;19520156;19550395;19561030;19635795;19688976;19730683;19738201;19860718;1988031;19886821;19898636;19900702;19913121;1996404;20006954;20053628;20157731;20177845;20200618;20332322;20360068;20363255;20399482;20525878;20549082;20570633;20592339;20596638;20628086;20644118;20657665;20728947;20816214;20828557;20873803;21113146;21122983;21139048;21147166;21150319;21191065;21292557;21372130;21378323;21385934;21391228;21397408;21505194;21514365;21614093;21632118;21689853;21724180;21747316;21779348;21780106;21807362;21880716;21880749;21890473;21897333;21906983;21963094;21986812;21998324;22022970;22028908;22081313;22155450;22156919;22167721;22174828;22267483;22271227;22285770;22291012;22353504;22373585;22383798;22386573;22432916;22447203;22456341;22524424;22546645;22561438;22583806;22609846;22623428;22689223;22692729;22696230;22716213;22777171;22785208;22844466;22863883;22884463;22936677;22939629;22939954;22942212;23000965;23002109;23022198;23027923;23113677;23121677;23124203;23142379;23223580;23359172;23389289;23402259;23431236;23444403;23510298;23599627;23681112;23824536;2383549;23862649;23929302;23956138;24077937;24211210;24241899;24284396;24407244;24468067;24503541;24530443;24654937;24684681;24752896;25015289;2719646;2719964;2910856;3020551;3065332;3611046;7501023;7750127;7795414;7821789;7869048;8063692;8432540;8449510;8872948;9264263;9572443;9683529 3956 F8WCQ5;F8WEI7;P09382 AB097036;ABBA01055481;AK312161;AL832117;AMYH02038339;BC001693;BC020675;BT006775;CH471095;CR456511;D28452;EU363770;GN043360;HI179170;J04456;M57678;NM_002305;S44881;X14829;X15256;Z83844 AAA36170;AAB00777;AAB19412;AAH01693;AAH20675;AAP35421;ABM83189;ABM86391;ACA58297;BAA05818;BAC77389;BAG35095;CAA32938;CAA33328;CAG30397;CAK54541;CAK54840;CAL37536;CAX48935;CBX53893;EAW60178;NP_002296;P09382 Hs.445351 1773886;5126643 RH48064;WI-18867 DKFZp686E23103;GAL1;GBP;HBL;HLBP14;HPL;gal-1 14 kDa laminin-binding protein;14 kDa lectin;OTTHUMP00000198176;S-Lac lectin 1;beta-galactoside-binding lectin L-14-I;beta-galactoside-binding protein 14kDa;galaptin;galectin 1;galectin-1;lactose-binding lectin 1;putative MAPK-activating protein PM12 APPROVED protein-coding ENSG00000100097 HGNC:6561 01040 150570 REVIEWED 1343899 LGALS5 lectin, galactoside-binding, soluble, 5 (galectin 5) 729015 7890611 3961 HGNC:6566 5485768 LGALS16 lectin, galactoside-binding, soluble, 16 ENCODES a protein that exhibits lactose binding; INVOLVED IN positive regulation of T cell apoptotic process 19 19 19 q13.2 36948198 36952927 + 40146558 40151287 + 39655918 39660647 + 19497882 148003 A8MUM7;M0R108 ABBA01040734;AC005515;AC093051;AMYH02036099;BX095861;FJ613352;KF456575;NM_001190441 A8MUM7;ACR09652;NP_001177370 Hs.667238 1655118 D19S1123 beta-galactoside-binding lectin;galectin-16;hypothetical protein LOC148003 protein-coding ENSG00000249861 HGNC:40039 VALIDATED 1346485 LGALS6 lectin, galactoside-binding, soluble, 6 (galectin 6) 3962 HGNC:6567 1351726 LGALS4 lectin, galactoside-binding, soluble, 4 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The expression of this gene is restricted to small intestine, colon, and rectum, and it is underexpressed in colorectal cancer. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 36094317 36106198 - 39292311 39303740 - 38801671 38813100 - 1580863;6480464;8554872 11971864;12477932;15489334;15546874;15883199;16169070;16940423;17110338;17545668;18539029;19192249;19903339;20445255;20706999;21064109;21724180;23117840;23378274;24339976;24384681;8063692;8889549;9162064;9310382 3960 M0QZ93;M0R1B2;M0R349;P56470;Q6FHZ4 AA130458;AA583424;AB006781;ABBA01040702;AC022144;AC104534;AF014838;AK290269;AK296194;AK296604;AMYH02036082;BC003661;BC005146;BC034750;BT007032;CH471126;CR536544;NM_006149;U82953 AAB86590;AAC51763;AAH03661;AAH05146;AAH34750;AAP35679;BAA22165;BAF82958;BAG58923;BAG59217;CAG38781;EAW56819;EAW56820;NP_006140;P56470 Hs.5302 5024761;5037552 D8S2279;RH36905 GAL4;L36LBP;gal-4 L-36 lactose-binding protein;antigen NY-CO-27;galectin 4;galectin-4;lactose-binding lectin 4 APPROVED protein-coding ENSG00000171747 HGNC:6565 03949 602518 REVIEWED 1350412 LGALS7 lectin, galactoside-binding, soluble, 7 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:653499) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 36063616 36066165 - 39261608 39264157 - 38770968 38773517 - 1580863;6480464 10500176;11706006;12477932;12523890;13679866;15342556;15489334;16196087;16788763;17044979;18418527;19012243;19148478;19596268;19615732;19815544;19885589;20382700;20546628;20562859;21145461;21182205;21289092;21319273;21397408;21677144;22059385;22251572;22354994;22377647;22864818;23376190;23443559;23493985;23564797;23967302;23985992;24134186;24163370;24457600;7534301;7729568;8889548;9305847;9697310;9760227 3963 M0R281;P47929 ABBA01040701;AC022144;AMYH02036080;BM681659;BP225960;CH471126;CR456917;CV575179;NM_002307 CAG33198;EAW56817;NP_002298 Hs.702546 5113856;5121515 RH66782;RH80063 GAL7;LGALS7A galectin 7;galectin-7 APPROVED protein-coding ENSG00000205076 HGNC:6568 09002 600615 REVIEWED 2306147 LGALS7B lectin, galactoside-binding, soluble, 7B The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:3963) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 36081864 36084401 + 39279850 39282394 + 38789210 38791754 + 6480464 11706006;12477932;13679866;15342556;15489334;16169070;16788763;18315601;19199708;21145461;7534301;7729568;9760227 653499 P47929 ABBA01040699;AC022144;AMYH02036082;AW015224;AX497005;BC042911;BC061588;BC073743;CH471126;L07769;NM_001042507;U06643 AAA67899;AAA86820;AAH42911;AAH61588;AAH73743;CAD48636;EAW56818;NP_001035972;P47929 Hs.558355 5113856;5121515 RH66782;RH80063 GAL7;Gal-7;HKL-14;LGALS7;MGC75149;MGC88745;PI7 galectin 7B;galectin-7;galectin-7B;keratinocyte lectin 14;lectin galactoside-binding soluble 7;p53-induced gene 1 protein;p53-induced protein 1 APPROVED protein-coding ENSG00000178934 HGNC:34447 REVIEWED 5488181 LGALS8-AS1 LGALS8 antisense RNA 1 1 1 1 q43 209934665 209936104 - 236686369 236687808 - 236523069 236524508 - 12477932 100287902 Q96CB2 ABBA01033165;AK026321;AL359921;AMYH02002971;BC007739;BC014452;CH471098;NR_034040 AAH14452;EAW70059 Hs.677376 APPROVED ncrna ENSG00000223776 HGNC:40340 VALIDATED 1315798 LGALS12 lectin, galactoside-binding, soluble, 12 This gene encodes a member of the galectin superfamily, a group of beta-galactoside-binding proteins with conserved carbohydrate recognition domains. The related mouse protein is a primary regulator of the early stages of adipose tissue development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010] 11 11 11 q13 60597611 60608333 + 63273524 63284246 + 63506052 63516774 + 1580863;6480464 11283015;11435439;12477932;15131127;15489334;21890473 85329 Q96DT0;Q9NZ03 ABBA01003254;AF222694;AF222695;AF244974;AF244975;AF244976;AF244977;AF310686;AF310687;AK313851;AMYH02024911;AP001591;BC028222;CH471076;NM_001142535;NM_001142536;NM_001142537;NM_001142538;NM_033101 AAF34676;AAF34677;AAG40863;AAG40864;AAH28222;AAK77328;AAK77329;AAK77330;AAK77331;ADZ15855;BAG36579;EAW74151;EAW74152;EAW74153;EAW74154;EAW74155;NP_001136007;NP_001136008;NP_001136009;NP_001136010;NP_149092;Q96DT0 Hs.502774 GAL12;GRIP1 OTTHUMP00000236918;OTTHUMP00000236919;OTTHUMP00000237063;OTTHUMP00000237064;OTTHUMP00000237065;galectin 12;galectin-12;galectin-related inhibitor of proliferation APPROVED protein-coding ENSG00000133317 HGNC:15788 16196 606096 REVIEWED 736794 LGALS9 lectin, galactoside-binding, soluble, 9 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The protein encoded by this gene is an S-type lectin. It is overexpressed in Hodgkin's disease tissue and might participate in the interaction between the H&RS cells with their surrounding cells and might thus play a role in the pathogenesis of this disease and/or its associated immunodeficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 22819983 22838398 + 25958174 25976586 + 27631148 27649560 + 1580863;6480464;8554872 11823532;12115481;12223516;12421975;12477932;12646627;12714580;12761501;14702039;14758084;15837748;16012760;16116184;16286920;17069754;17156439;17167046;17353931;17446336;17449641;17596995;17907924;18005988;18050192;18258591;18264727;18401566;18485114;18977853;19005181;19100864;19335620;19538882;19776007;20206131;20209097;20484929;20574007;21187321;21263071;21426359;21670307;21717191;22027828;22323453;22371007;22438246;22505239;22650413;22938412;23038209;23121677;23128233;23144904;23161469;23180819;23242525;23321864;23339460;23408620;23735749;23818845;23866914;23936526;23967307;24333696;24339967;24477913;24895689;24958847;8125298;9045665;9642261 3965 B4DWP7;F8W9W4;J3KS82;J3KSA0;J3QKK6;J3QS92;K7EPS0;O00182;Q8WYQ7 AB003517;AB005894;AB006782;AB008492;AB040130;ABBA01015068;AC015688;AJ288083;AK126017;AK223232;AK296031;AK301624;AMYH02033211;BC034392;BC105942;BC105944;BC110340;CH471159;NM_002308;NM_009587;NR_024043;XM_006721892;XM_006721893;XM_006721894;XM_006721895;Z49107 AAI05943;AAI05945;AAI10341;BAA22166;BAA31542;BAB83623;BAB83624;BAB83625;BAD96952;BAF76327;BAF76328;BAG54277;BAG58799;BAG63109;CAA88922;CAB93851;EAW51037;EAW51038;EAW51039;EAW51040;EAW51041;EAW51042;EAW51043;EAW51044;EAW51045;NP_002299;NP_033665;O00182;XP_006721955;XP_006721956;XP_006721957;XP_006721958 Hs.81337 HUAT;LGALS9A;MGC117375;MGC125973;MGC125974;gal-9 OTTHUMP00000163272;OTTHUMP00000163273;OTTHUMP00000163275;ecalectin;galectin 9;galectin-9;lectin, galactose binding, soluble 9;tumor antigen HOM-HD-21;urate transporter/channel protein APPROVED protein-coding ENSG00000168961 HGNC:6570 03528 601879 REVIEWED 1354427 LGALS8 lectin, galactoside-binding, soluble, 8 This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q43 209929863 209961279 + 236681514 236716281 + 236518214 236552981 + 729012;1580863;6480464;8554872 7852431 10697573;10852818;10980616;11494049;11675018;11839721;12223276;12234517;12477932;12569102;12851289;12881409;14758080;15342556;15489334;15753078;16189514;16344560;16368432;16751776;17339281;17481580;17580315;18024965;18456665;18511908;18539029;18849583;19009371;19268462;19395456;19407390;19946888;20044599;20800603;20858220;20876211;21139048;21145461;21288902;21757871;21862124;21890473;21906983;22022970;22173878;22240167;22246324;22267735;22285770;22683700;22913484;22973445;22990118;23000965;23386746;23398456;23511477;23555773;23956138;24418318;8692978 3964 B1ANM0;E9PJ77;E9PN19;E9PNC2;E9PPL1;E9PPM4;E9PRN3;F6V2D4;H7BXD8;O00214;Q5T3P9 AB209914;ABBA01033165;ABBA01033166;AF074000;AF074001;AF074002;AF193806;AF342815;AF342816;AF468213;AK098613;AK296061;AL136105;AL359921;AMYH02002971;AU117713;AY037304;BC015818;BC016486;BI758016;BP280070;BP371701;BU561073;BU630272;CH471098;DB053616;EF467046;L78132;NM_006499;NM_201543;NM_201544;NM_201545;X91790 AAB51605;AAD45402;AAD45403;AAD45404;AAF19370;AAH15818;AAH16486;AAK16735;AAK16736;AAK69827;AAL77076;ABM87017;ABQ63077;ABW03852;BAD93151;BAG58824;CAA62904;EAW70053;EAW70054;EAW70055;EAW70056;EAW70057;NP_006490;NP_963837;NP_963838;NP_963839;O00214 Hs.4082;Hs.708114;Hs.735982 1645480;1645482;1645829;1698968;1722589;1739235;1744887;1767208;1794402;1846843;1846905;1847595;1855606;1856470;2148490;2172297;2178100;2180317;2182218;2218786 A005A42;D1F299S1;D1S2293;G20229;G60376;HSCZVH012;LGALS8_4007;PMC311069P11;RH103053;RH16350;RH68829;SGC34592;SHGC-32054;SHGC-76531;SHGC-76541;SHGC-76543;SHGC-76570;SHGC-76571;WI-12386;WI-20466 Gal-8;PCTA-1;PCTA1;Po66-CBP OTTHUMP00000037853;OTTHUMP00000037854;OTTHUMP00000037855;OTTHUMP00000037957;OTTHUMP00000037958;OTTHUMP00000037959;OTTHUMP00000037960;OTTHUMP00000037961;OTTHUMP00000038817;OTTHUMP00000231517;OTTHUMP00000231546;Po66 carbohydrate binding protein;galectin 8;galectin-8;galectin-8g;po66 carbohydrate-binding protein;prostate carcinoma tumor antigen 1 2299934;2299935 PRSTS333_H;PRSTS334_H APPROVED protein-coding ENSG00000116977 HGNC:6569 09356 606099 REVIEWED 736304 LGALS3 lectin, galactoside-binding, soluble, 3 This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 14 14 14 q22.3 35645428 35661641 + 55595935 55612148 + 55129217 55145430 + 1580863;6480464;6484113;8554872 10089212;10536372;10704522;10745073;10925302;10961987;11146440;11160123;11522829;11532191;11724777;11839755;11856751;12112826;12213909;12366402;12375039;12438311;12439750;12477932;12615069;12642626;12673672;12696064;12714580;12767519;12823983;12878156;12963125;14558920;14611647;14961764;15181153;15205467;15279903;15326483;15362030;15386597;15489334;15501810;15555581;15561101;15579437;15604089;15643504;15645276;15843888;15867344;15887854;16045783;16112008;16184379;16244583;16285957;16289162;16365873;16369807;16424226;16518858;16530434;16549783;16600178;16651632;16702978;16722927;16738336;16804396;16818789;16996782;17056590;17082191;17090543;17110338;17189612;17221114;17385862;17420249;17481580;17515507;17534895;17544840;17592963;17597183;17728499;17868400;17888402;17889671;17906980;17949550;18008332;18024302;18045960;18089806;18096829;18263896;18288410;18292532;18302943;18319555;18384511;18395901;18415710;18418527;18438928;18455493;18460740;18495537;18542048;18556657;18581271;18584353;18594826;18630998;18657294;18662664;18670355;18676377;18695044;18757439;18836743;18942707;18951731;18988806;18997617;19016746;19020721;19020999;19053747;19056867;19064001;19074165;19074869;19124005;19136890;19137262;19153476;1917996;19199318;19207946;19225046;19271150;19278794;19286570;19291362;19291534;19309568;19332433;19452726;19453521;19479862;19556244;19603745;19633306;19690136;19699526;19706535;19723119;19747906;19755493;19781269;19798881;19799084;19818774;19818782;19830550;19843071;1988031;19913121;19940114;19946888;20014549;20040515;20056110;20080851;2009535;20130888;20144269;20156641;20198455;20204403;2022338;20363921;20372914;20384870;20401558;20450430;20451577;20490454;20565834;20600357;20622331;20628086;20635166;20682656;20695889;20698585;20711594;20713592;20729207;20800603;20807768;20855213;20881856;20885286;21030859;21070836;21094672;21153652;21167898;21189092;21234707;21258405;21327452;21331750;21350102;21378323;21396839;21397408;21446041;21475983;21494181;21516492;21553103;21555510;21641051;21691201;21698183;21705042;21715185;21715322;21724180;21724837;21750908;21792939;21821001;21832049;21910036;21941373;21958686;21966428;21987825;22004231;22024187;22039439;22071132;22111949;22152245;22155450;22167721;22232548;22236000;22240167;22267483;22367363;22465244;22497866;22513979;22535608;22546645;22549776;22553813;2261464;22673112;22674388;22683626;22729037;22761016;22783570;22795719;22827322;22846995;22886030;22892876;22900040;22916968;22939629;22986745;22990118;22997967;22998064;23015305;23037954;23056639;23065155;23090139;23103626;23113677;23117656;23117840;23118221;23152863;23160381;23202783;23235344;23255567;23259327;23279221;23300668;23316284;23352394;23395934;23401226;23449638;23479624;23487460;23488971;23505301;23541576;23625538;23638216;23650131;23651923;23666680;23711389;23807898;23836758;23850421;23888483;23898060;23907467;23912642;23917726;23926108;23945245;23953881;23956138;23964611;23975852;24007691;2402511;24040451;24065222;24090952;24100038;24102091;24134621;24207066;24264380;24269589;24281352;24303084;24338533;24369793;24398765;24530443;24567334;24619419;24778176;24786210;24837829;24845565;24854395;7573347;7600101;7682704;7729540;7947821;8061935;8063692;8253805;8253806;8390986;8449510;8581828;8692888;8813152;8889548;9162064;9271684;9439577;9447709;9501082;9520085;9582341 3958 G3V3R6;G3V407;P17931 AB006780;AB086821;AB209391;ABBA01018201;AF031425;AF266280;AK314929;AL139316;AMYH02029232;BC001120;BC053667;BC068068;BC128253;BC128403;BG332134;BQ645629;BU681070;BX161455;BX641090;CD518618;CH471061;CR456897;CR542097;HI179168;M35368;M36682;M57710;M64303;NG_017089;NM_001177388;NM_002306;NR_003225;S59012;U10300 AAA35607;AAA36163;AAA88086;AAB26229;AAB86584;AAG44701;AAG44702;AAH01120;AAH53667;AAH68068;ABM83520;ABW03507;BAA22164;BAC45249;BAD92628;BAG37435;CAD61918;CAE46042;CAG33178;CAG46894;CBX53892;EAW80658;EAW80660;NP_001170859;NP_002297;P17931 Hs.531081 1770960;1777722;2136719;2137100;2169531;5127434 D14S878;G35459;RH69146;RH69221;RH70554;WI-15390 CBP35;GAL3;GALBP;L31;LGALS2;MAC2 35 kDa lectin;GALIG;IgE-binding protein;MAC-2 antigen;OTTHUMP00000244927;OTTHUMP00000244928;carbohydrate-binding protein 35;galactose-specific lectin 3;galectin-3;laminin-binding protein;lectin L-29;lectin, galactose binding, soluble 3 APPROVED protein-coding ENSG00000131981 HGNC:6563 01090;17026 153619 REVIEWED 8549327 LGALS9DP lectin, galactoside-binding, soluble, 9D, pseudogene 17 17 17 q11.2 22926660 22945586 + 26064803 26083729 + 27737777 27756703 + 645754 ABBA01015066;ABBA01015067;AC130289;AMYH02033211;NG_005629 pseudo HGNC:49896 INFERRED 735390 LGALS2 lectin, galactoside-binding, soluble, 2 The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 21768112 21777886 - 37966253 37976024 - 37570246 37580017 - 1581852;1581853;1580863;6480464;7240710;8554872 17040205 10591208;12477932;1375225;15129282;15356130;15461802;15489334;15990958;16468038;16940423;17098239;17493152;17497114;17517687;17999373;18029348;18230628;18506375;19013708;19182073;19330599;19380789;19578796;19726041;1988031;19913121;20098747;20379614;20500087;20628086;21514365;21724180;21831908;21832049;22015694;22041458;22310064;23581621;24384681;3020551;8262940;8411163;8449510 3957 B0QYC9;P05162 ABBA01055473;AL022315;AMYH02038337;AMYH02038338;BC029063;BC059782;CD701729;CH471095;CR456512;CR541972;CR542000;M14079;M87842;M87860;NG_012096;NM_006498 AAA36171;AAA59512;AAA59513;AAH29063;AAH59782;CAG30398;CAG46770;CAG46797;CAK54542;CAK54841;EAW60167;NP_006489;P05162 Hs.531776 1689173;1744385;1772062 GDB:452630;RH71441;RH93754 HL14;MGC75071;gal-2 OTTHUMP00000197882;S-Lac lectin 2;beta-galactoside-binding lectin L-14-II;galectin 2;galectin-2;lactose-binding lectin 2;lectin, galactoside-binding, soluble, 2 (galectin 2) APPROVED protein-coding ENSG00000100079 HGNC:6562 08859 150571;608446 REVIEWED 2298931 LGALS9C lectin, galactoside-binding, soluble, 9C This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more telomeric gene. [provided by RefSeq, Jul 2008] 17 17 p11.2 18380099 18398259 + 18476785 18494945 + 6480464 11971863;11997339;12477932;12684513;16341674;16344560;17207965 654346 J3KRF0;J3KSV0;J3KSY2;J3KT17;J3QKS2;J3QR96;J3QSH0;Q6DKI2 AC107983;AK315818;AL353997;AMYH02033116;BC073889;BM769737;DA426549;NM_001040078;XM_005256769;XM_005256770 AAH73889;ADQ32656;BAF98709;NP_001035167;Q6DKI2;XP_005256826;XP_005256827 Hs.462402 2131619;5115842 G13298;ksks301 MGC125972;gal-9C OTTHUMP00000065433;galectin 9 like;galectin-9-like protein B;galectin-9C;lectin, galactoside-binding, soluble, 9 (galectin 9) pseudogene APPROVED protein-coding ENSG00000171916 HGNC:33874 VALIDATED 2298932 LGALS9B lectin, galactoside-binding, soluble, 9B This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more centromeric gene. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 1206 2982 + 20352708 20370848 - 20449395 20467535 - 6480464;8554872 11997339;12477932;16341674;16344560 284194 B4DKP4;J3QRN8;J3QSC5;Q3B8N2 ABBA01154187;AC015818;AK290263;AK296659;AMYH02033185;AMYH02033186;AMYH02033187;AMYH02033188;BC105943;BM769345;DA668702;NM_001042685;XM_006721505 AAI05944;BAF82952;BAG59256;NP_001036150;Q3B8N2;XP_006721568 Hs.462402;Hs.610820 2131619;5115842 G13298;ksks301 FLJ58146;FLJ75081;gal-9B OTTHUMP00000161300;galectin-9 like;galectin-9 pseudogene;galectin-9-like protein A;galectin-9B APPROVED protein-coding ENSG00000170298 HGNC:24842 VALIDATED 1352680 LGCR Langer-Giedion syndrome chromosome region 1684953 3966 HGNC:6571 1344656 LGMD1A limb-girdle muscular dystrophy 1A (autosomal dominant) 9828127 3967 HGNC:6574 733103 LGI1 leucine-rich, glioma inactivated 1 This gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. [provided by RefSeq, Jul 2008] 10 10 10 q24 89258689 89298048 + 95517566 95557916 + 93757809 93798159 + 737768;1580863;6480464;7240710;8554872;8699517 12095917 11810107;11978770;12205652;12217514;12477932;12601709;12771268;12821932;12975309;15009222;15047712;15079010;15079011;15164054;15349881;15489334;15827762;16385451;16518856;16707245;16787412;16990550;17067999;17296837;17875918;18355961;18625862;18711109;19191227;19268539;19387870;19552651;19778537;19780791;19796686;20301709;20580615;20659151;20863412;21444903;21479274;21504429;22122031;22323750;22496201;22744657;23407760;23621105;23651915;24177143;24206907;24227725;24510112;7647791;9879993 9211 O95970;Q59FQ2 AB209408;ABBA01021866;AF055636;AF473548;AK289706;AK303956;AK309416;AL157396;AL358154;AMYH02023560;AMYH02023561;AY358885;BC022500;CH471066;CS072315;DC326684;NG_011832;NM_005097;XM_005270272 AAC99316;AAH22500;AAM22074;AAQ89244;ABM83297;ABM86506;BAD92645;BAF82395;BAG64882;CAI93453;EAW50051;EAW50052;EAW50053;NP_005088;O95970;XP_005270329 Hs.533670 1782114;2107263;2120949;2174653 LGI1__6389;SHGC-155057;T15408;WI-16274 EPT;ETL1;IB1099 ADLTE;ADPAEF;ADPEAF;EPITEMPIN;OTTHUMP00000020121;OTTHUMP00000020122;epitempin-1;leucine-rich glioma-inactivated protein 1 APPROVED protein-coding ENSG00000108231 HGNC:6572 05216 600512;604619 REVIEWED 1353955 LGMD1D limb girdle muscular dystrophy 1D (autosomal dominant) ASSOCIATED WITH Muscular Dystrophy, Limb-Girdle, Type 1E (inferred) 7240710 9973292 9186 2134104 D7S427 HGNC:6576 603511 1344124 LGI4 leucine-rich repeat LGI family, member 4 INVOLVED IN adult locomotory behavior (inferred); glial cell proliferation (inferred); myelination in peripheral nervous system (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4',5-pentachlorobiphenyl (ortholog) 19 19 19 q13.12 32328853 32339614 - 35615417 35626178 - 35124513 35135274 - 6480464 12023020;12095917;12217514;12477932;12975309;14505228;19815358;20220021;24250222;8889548 163175 A5D6Y5;A8MVC2;K7ENQ0;Q8N135 ABBA01018732;ABBA01018733;AC020907;AF467954;AJ487519;AJ487959;AL832968;AMYH02035975;AY358121;BC029943;BC087848;BC136694;BC136697;BC140008;BU740724;KF456566;NM_139284 AAH87848;AAI36695;AAI36698;AAI40009;AAM49552;AAQ88488;CAD31787;CAD32306;CAH56336;NP_644813;Q8N135 Hs.65256 1665198;1770493;1770495;2133672;2156860;2185969 A005M08;G20326;RH11600;RH79072;SGC33373;STS-N52877 LGIL3 LGI1-like protein 3;OTTHUMP00000042035;OTTHUMP00000042036;leucine-rich glioma-inactivated gene 4;leucine-rich glioma-inactivated protein 4;leucine-rich repeat LGI family member 4 protein-coding ENSG00000153902 HGNC:18712 06433 608303 VALIDATED 1321270 LGI2 leucine-rich repeat LGI family, member 2 FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); all-trans-retinoic acid (ortholog) 4 4 4 p15.2 25449352 25481288 - 25000471 25032414 - 24998849 25030792 - 6480464 11572484;12023020;12095917;12217514;12477932;14702039;15489334;16014869;16021519;20183877;20863412;8619474;9110174 55203 H0YA65;Q8N0V4 AB067503;ABBA01032689;AC113614;AF052098;AF467955;AJ487516;AJ487958;AK001537;AK058023;AK126093;AL833647;AMYH02008908;AMYH02008909;BC101759;BC101761;CH471069;CS083233;NM_018176 AAI01760;AAI01762;AAM49553;BAA91746;BAB67809;BAC86435;CAD31784;CAD32305;CAI96003;EAW92828;EAW92829;EAW92830;NP_060646;Q8N0V4 Hs.12488 1335336;2166690;2169110;2179032;2219900 D4S2724;D4S2948;LGI2__6390;RH18349;SHGC-59783 FLJ10675;KIAA1916;LGIL2;MGC126808;MGC126810 LGI1-like protein 2;OTTHUMP00000123374;OTTHUMP00000218075;leucine-rich glioma-inactivated protein 2;leucine-rich repeat LGI family member 2;leucine-rich, glioma inactivated 2 protein-coding ENSG00000153012 HGNC:18710 06431 608301 VALIDATED 1346654 LGMNP1 legumain pseudogene 1 13 13 13 q21.31 46432551 46434513 - 65531688 65533650 - 64957556 64959518 - 122199 ABBA01050265;AL359438;AMYH02028180;NG_001534 1650077;1665151;5018017 LGMN-1;RH78327;SHGC-169 LGMN2P APPROVED pseudo HGNC:23079 INFERRED 1605061 LGR4 leucine-rich repeat containing G protein-coupled receptor 4 G protein-coupled receptors (GPCRs) play key roles in a variety of physiologic functions. Members of the leucine-rich GPCR (LGR) family, such as GPR48, have multiple N-terminal leucine-rich repeats (LRRs) and a 7-transmembrane domain (Weng et al., 2008 [PubMed 18424556]).[supplied by OMIM, Aug 2008] 11 11 11 p14-p13 27532862 27640072 - 27387508 27494338 - 27365961 27472787 - 6480464;7240710;7365107 23085770 10894923;11401528;12477932;17178856;18424556;19301269;19550120;21139048;21693646;22575959;22815884;23444378;23589304;23644456;23803691;24050775;24083742;24083766;24165923;24212090;24225776;24455684;24519938;24639526;9849958 55366 E9PK51;Q59ER8;Q9BXB1 AB209743;ABBA01060971;ABBA01060972;ABBA01060973;AC090597;AC100771;AF257182;AF346711;AI699025;AMYH02024501;AMYH02024502;AMYH02024503;AMYH02024504;BC033039;CB047435;CH471064;NM_018490 AAF68989;AAH33039;AAK31153;ABM83401;ABM86613;BAD92980;EAW68285;EAW68286;NP_060960;Q9BXB1 Hs.502176 1698116;1737021;1748555;1774093;1797634;2115561;2117106;2122806;2186549;5093010 A006R28;A009E07;D11S2772;D11S4640;D11S4703;G32467;GPR48_2097;RH102590;RH36159;SHGC-110152 BNMD17;GPR48 G protein-coupled receptor 48;G-protein coupled receptor 48;G-protein-coupled receptor 48;OTTHUMP00000164774;OTTHUMP00000164775;OTTHUMP00000232237;leucine-rich repeat-containing G protein-coupled receptor 4;leucine-rich repeat-containing G-protein coupled receptor 4 APPROVED protein-coding ENSG00000205213 HGNC:13299 05978 181500;606666;615311 VALIDATED 1605118 LGR5 leucine-rich repeat containing G protein-coupled receptor 5 ENCODES a protein that exhibits transmembrane signaling receptor activity; INVOLVED IN positive regulation of canonical Wnt signaling pathway; PARTICIPATES IN Wnt signaling, canonical pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of plasma membrane; trans-Golgi network membrane; INTERACTS WITH benzo[a]pyrene; copper atom; copper(0) 12 12 12 q22-q23 71496570 71640955 + 71832931 71980090 + 71439154 71586310 + 6480464;7365107;8554872 23085770 10935549;12477932;12601349;16575208;17554300;17934449;18372903;18591388;18688030;19020323;19020324;19030762;19139842;19197002;19549212;19602701;19670153;19720844;19794065;19813087;19833888;19862325;19933996;20042737;20195621;20384634;20571754;20581827;20712903;20879858;20889853;20927120;21125339;21273608;21345220;21436631;21577318;21693646;21829496;21978106;22322201;22473993;22530031;22805276;22815884;22923071;22945475;22969042;22986809;22999937;23081779;23092806;23127514;23142137;23349017;23356221;23377989;23438436;23439653;23475985;23553870;23619912;23664892;23784051;23793848;23912594;23915911;24063790;24172981;24225776;24282287;24340024;24379591;24594994;9642114;9849958 8549 O75473 ABBA01026513;ABBA01026514;AC078860;AC090116;AF061444;AF062006;AK075399;AK294985;AK315133;AMYH02026737;BC096324;BC096325;BC096326;BC099650;BQ774570;CA412916;CH471054;DA811892;DC323352;DR003044;FN820440;H88004;JB746176;JB746306;JB746393;JB746409;NM_001277226;NM_001277227;NM_003667;NR_110596;XM_005269204 AAC28019;AAC77911;AAH96324;AAH96325;AAH96326;AAH99650;BAG58053;CBL95002;CDI30209;CDI30210;CDI30211;CDI30212;EAW97258;EAW97259;NP_001264155;NP_001264156;NP_003658;O75473;XP_005269261 Hs.658889 1681434;1706352;1724389;1725523;1746293;1797636;2142645 AFMA047XB9;G64531;GPR49_2094;RH119160;RH121304;RH92483;SHGC-80742 FEX;GPR49;GPR67;GRP49;HG38;MGC117008 G protein-coupled receptor 49;G protein-coupled receptor 67;G-protein coupled receptor 49;G-protein coupled receptor 67;G-protein coupled receptor HG38;OTTHUMP00000241504;OTTHUMP00000241505;OTTHUMP00000241506;leucine-rich repeat-containing G protein-coupled receptor 5;leucine-rich repeat-containing G-protein coupled receptor 5;orphan G protein-coupled receptor HG38 APPROVED protein-coding ENSG00000139292 HGNC:4504 05979 606667 VALIDATED 69097 LHB luteinizing hormone beta polypeptide This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 46386444 46387554 - 49519237 49520350 - 49015980 49017090 - 1600613;1580863;6480464;6907045;7240710;8699517;8554872 15602022 10065776;10484773;10854700;11829319;11861891;11870227;1191677;12042273;12356936;12419040;12683946;12700240;12734546;12746844;14557487;14585810;14871891;1495492;15569941;16103457;16358135;16410673;1727547;17507624;17761593;18240029;18439297;18703851;18767927;19106225;19129711;19146763;19453261;19574343;19598235;19890021;1991473;20173016;20430510;20734064;21353371;21458524;21764500;22108961;22209983;22546001;22865884;23015653;23160221;2424697;24625195;3470775;4368999;4685398;4719207;6690982;6785294;7513655;7679977;8663226;8961276;8979264;9457942;9619532;9886510 3972 P01229 ABBA01032950;AC008687;AC245081;AF397591;CH471177;NG_011464;NG_033041;NM_000894;S71273;X00264 AAD14960;AAI60107;AAL69719;CAA25067;EAW52432;NP_000885;P01229 Hs.154704 1847990;2151237;5492491;5493027 A002E14;RH47492;UniSTS:481308;UniSTS:483811 CGB4;LSH-B;hLHB LSH-beta;interstitial cell stimulating hormone, beta chain;luteinizing hormone beta;luteinizing hormone beta subunit;lutropin beta chain;lutropin subunit beta APPROVED protein-coding ENSG00000104826 HGNC:6584 01072 152780 REVIEWED 1606012 LGALSL lectin, galactoside-binding-like ENCODES a protein that exhibits carbohydrate binding (inferred); FOUND IN intracellular; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; paracetamol 2 2 2 p14 64527497 64534686 + 64681327 64688517 + 64454193 64461383 + 6480464 11042152;11076863;11256614;12477932;15489336;16381901;16682780;18219197;18320588;19322201;21044950;21139048 29094 B9A055;F8WF17;Q3ZCW2;U3KQ88;U3KQU5 ABBA01075419;AC008074;AF161508;AK025603;AK314656;AMYH02003966;BC036082;BC062691;CH471053;DR001728;NM_014181 AAF29123;AAH36082;AAH62691;BAG37215;CAL38047;EAW99942;EAW99943;NP_054900;Q3ZCW2 Hs.372208 1654052;1687151;2110461;2187396 HSPC159_9577;RH11927;RH80132;SHGC-37647 GRP;HSPC159;MGC33751;MGC71953 OTTHUMP00000159938;OTTHUMP00000202181;OTTHUMP00000202188;galectin-related protein;lectin galactoside-binding-like protein APPROVED protein-coding ENSG00000119862 HGNC:25012 13708 VALIDATED 731860 LGMN legumain This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008] 14 14 14 q32.1 73224285 73269160 - 93170152 93215047 - 92703807 92748702 - 1580863;6480464;6907045;8554872 11085925;12477932;12860980;136644;15100291;15489334;15583024;15788679;15951480;16009940;16341674;16344560;18029348;18374643;18377911;19453521;19615732;20074384;20536387;21139048;21906983;21988832;22232165;22268729;22441772;22718532;22902879;22939629;23124822;23160071;23326369;23383108;23640887;23776206;23942113;24023813;24610907;24654937;8125298;8893817;9065484;9742219;9821970;9872320;9891971 5641 G3V263;G3V2E9;G3V2T4;G3V3Z4;G3V4E4;G3V4P5;G3V5B2;H0YJN9;Q53XC6;Q96CY7;Q99538 ABBA01030447;ABBA01030448;ABBA01030449;ABBA01030450;ABBA01030451;AK225822;AK291534;AK291560;AK297074;AK297780;AL132987;AL136332;AMYH02029765;AMYH02029766;AMYH02029767;BC003061;BC013678;BM838821;BX161380;BX161422;BX161434;CD366588;CH471061;CR457406;D55696;DA347449;FB717466;FB717468;FB717476;NM_001008530;NM_005606;XM_005267862;XM_005267863;Y09862 AAH03061;AAH13678;ABM82810;ABM85996;ABM85997;ABW03452;BAA09530;BAF84223;BAF84249;BAH12490;BAH12664;CAA70989;CAD61872;CAD61895;CAD61906;CAG33687;CAS91767;CAS91768;CAS91772;EAW81500;EAW81501;NP_001008530;NP_005597;Q99538;XP_005267919;XP_005267920 Hs.18069 1650077;1658738;1665151;1850756;5018017;5022578 D1S1423;G35826;G35862;LGMN-1;RH78327;SHGC-169 AEP;LGMN1;PRSC1 OTTHUMP00000245416;OTTHUMP00000245418;OTTHUMP00000245419;OTTHUMP00000245421;asparaginyl endopeptidase;cysteine protease 1;protease, cysteine 1;protease, cysteine, 1 (legumain) APPROVED protein-coding ENSG00000100600 HGNC:9472 04017 602620 REVIEWED 1353750 LGR6 leucine-rich repeat containing G protein-coupled receptor 6 This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 175287040 175412795 + 202163118 202288889 + 202193810 202319761 + 1580863;6480464;8554872 10935549;12044878;12477932;12975309;14702039;15489334;16710414;22615920;22889411;22944692;23535733;8889548 59352 D6R9F0;Q5T508;Q9HBX8 AB049405;AB083616;ABBA01027504;ABBA01027505;ABBA01027506;ABBA01027507;ABBA01027508;AF088074;AF190501;AK027377;AK123055;AL356953;AMYH02002494;AY358119;BC038795;BC047905;BM699180;CH471067;CQ840811;NM_001017403;NM_001017404;NM_021636;XM_005245404;XM_006711480 AAG17168;AAH47905;AAQ88486;BAB39854;BAB55071;BAB89329;CAH05693;EAW91407;EAW91408;EAW91409;EAW91410;NP_001017403;NP_001017404;NP_067649;Q9HBX8;XP_005245461;XP_006711543 Hs.497402 1337357;1698284;1707288;2142817 D1S1727;RH102679;RH64613;SHGC-79247 FLJ14471;GPCR;VTS20631 OTTHUMP00000038794;OTTHUMP00000038795;OTTHUMP00000038796;OTTHUMP00000217676;gonadotropin receptor;leucine-rich repeat-containing G protein-coupled receptor 6;leucine-rich repeat-containing G-protein coupled receptor 6 APPROVED protein-coding ENSG00000133067 HGNC:19719 05974 606653 REVIEWED 1344000 LGSN lengsin, lens protein with glutamine synthetase domain This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 6 6 6 pter-q22.33 62145321 62189340 - 63985856 64029882 - 63275951 63319977 - 6480464;8554872 12107412;12107413;12477932;14574404;16005676;16273301;17010935;17161372;19459848;20379614;21621269;23251661 51557 Q5TDP6 ABBA01023966;AF242388;AL121949;AL450346;AL590456;AMYH02013810;AMYH02013811;BC130366;BC130368;CH471143;DQ682605;DQ682606;NM_001143940;NM_016571 AAF61255;AAI30367;AAI30369;ABG75902;ABG75903;EAW88493;NP_001137412;NP_057655;Q5TDP6 Hs.149585 2107163;5020948;5021431 G35510;GLULD1__6814;L17702 GLULD1;LGS;MGC163238;MGC163240 OTTHUMP00000016672;OTTHUMP00000016673;glutamate-ammonia ligase (glutamine synthase) domain containing 1;glutamate-ammonia ligase domain-containing protein 1;lengsin;lens glutamine synthase-like;lens glutamine synthetase-like APPROVED protein-coding ENSG00000146166 HGNC:21016 13585 611470 REVIEWED 1322345 LGI3 leucine-rich repeat LGI family, member 3 ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN exocytosis (inferred); metabolic process (inferred); regulation of exocytosis (inferred); FOUND IN cell junction (inferred); extracellular region (inferred); neuron projection (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; 17beta-estradiol (ortholog) 8 8 8 p21.3 20966267 20976328 - 22004343 22014344 - 22146830 22156831 - 6480464 12023020;12095917;12217514;12477932;12975309;14702039;15489334;18628660;23505323;23815230 203190 E5RIV5;H0YAP4;Q8N145 ABBA01005505;ABBA01005506;AC105206;AF467956;AJ487518;AJ487961;AK090946;AMYH02017589;AY358116;BC036494;BC042542;BC142997;CH471080;NM_139278 AAH42542;AAI42998;AAM49554;AAQ88483;BAC03553;CAD31786;CAD32308;EAW63708;EAW63709;NP_644807;Q8N145 Hs.33470 1664111 WI-15206 LGIL4 LGI1-like protein 4;OTTHUMP00000162355;OTTHUMP00000224817;OTTHUMP00000224818;leucine-rich glioma-inactivated protein 3;leucine-rich repeat LGI family member 3 protein-coding ENSG00000168481 HGNC:18711 06432 608302 VALIDATED 1347444 LHFP lipoma HMGIC fusion partner This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008] 13 13 13 q12 20971004 21230116 - 39917029 40177356 - 39342892 39603219 - 6480464;8554872 10329012;12477932;15057823;15489334;15905332;16344560;22538188;22745009;23551011;8125298 10186 Q9Y693 ABBA01021311;ABBA01021312;ABBA01021313;AF098807;AK129819;AK223369;AK313036;AL136358;AL137388;AL138685;AL158194;AMYH02027897;AMYH02027898;AMYH02027899;AMYH02027900;BC017824;CH471075;DA375214;NM_005780;XM_006719750 AAD31386;AAH17824;ABM82910;ABM86100;BAD97089;BAG35869;EAX08616;EAX08617;NP_005771;Q9Y693;XP_006719813 Hs.507798 1336537;1724467;1737355;1756653;1772202;1779488;1782882;1782914;1848403;2115051;2119721;2126614;2144083;2153453;2153901;2170205;5022747 A004V01;D13S1253;D13S947;G17714;LHFP;RH122398;RH44814;RH45065;RH46117;RH68375;SHGC-143706;SHGC-153466;SHGC-154037;SHGC-155177;SHGC-34363;SHGC-56345;WIAF-1647 MGC22429 OTTHUMP00000018296 APPROVED protein-coding ENSG00000183722 HGNC:6586 09464 606710 REVIEWED 1601697 LHFPL1 lipoma HMGIC fusion partner-like 1 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] X X X q23 112359143 112408638 - 111873879 111923375 - 112630651 112680147 - 6480464 10329012;12477932;12975309;15489334;15620218;15905332;16344560;8889549 340596 Q86WI0 ABBA01043144;ABBA01043145;ABBA01043146;ABBA01043147;ABBA01043148;ABBA01043149;ABBA01043150;ABBA01043151;ABBA01043152;AC000114;AK289946;AL034450;AMYH02040246;AY217350;AY358208;BC100785;BC100786;BC100787;DA305197;NG_012629;NM_178175;XM_005262128 AAI00786;AAI00787;AAI00788;AAO60107;AAQ88575;BAF82635;NP_835469;Q86WI0;XP_005262185 Hs.297420 1669980;2176638 AL023611;AL031558 MGC118798;MGC118800;MGC118801 LHFP-like protein 1;OTTHUMP00000023865;lipoma HMGIC fusion partner-like 1 protein APPROVED protein-coding ENSG00000182508 HGNC:6587 06610 300566 REVIEWED 1320443 LHFPL2 lipoma HMGIC fusion partner-like 2 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 5 5 5 q14.1 73674222 73837829 - 77781038 77944648 - 78485215 78648825 - 6480464;8554872 10329012;12477932;14702039;15146197;15905332;16344560;19668339;20379614;21906983;8889548;9039502 10184 Q6ZUX7 ABBA01061998;ABBA01061999;AC010252;AC010585;AK091868;AK125227;AMYH02011632;AMYH02011633;AY309920;BC136335;BC136336;BU735939;CH471084;CN314535;CR936660;D86961;DA094988;DB292748;NM_005779;XM_006714515 AAI36336;AAI36337;AAP74733;BAA13197;BAC86089;EAW95818;EAW95819;NP_005770;Q6ZUX7;XP_006714578 Hs.670094;Hs.79299 1656407;1696480;1722729;1725323;1751633;2109467;2167644 B347YF9;G60302;LHFPL2_9056;RH118979;SHGC-105576;SHGC-32444;SHGC-79805 DKFZp781E0375;KIAA0206 LHFP-like protein 2;OTTHUMP00000222104;lipoma HMGIC fusion partner-like 2 protein APPROVED protein-coding ENSG00000145685 HGNC:6588 17272 609718 REVIEWED 6767254 LHFPL3-AS1 LHFPL3 antisense RNA 1 7 7 7 q22.1 99242666 99250252 - 104436953 104444539 - 104796506 104804092 - 12477932 645591 ABBA01057969;AC079796;AC091286;AMYH02016463;BC012751;BC013905;BU161581;CH236947;KF459907;NR_034141;NR_034142 Hs.658835 1650913;1651642;1732545;2147463 D7S1493;D7S2353;GDB:4585119;STS-N33569 APPROVED ncrna ENSG00000226869 HGNC:40341 VALIDATED 737217 LHCGR luteinizing hormone/choriogonadotropin receptor This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008] 2 2 2 p21 48754221 48823183 - 48913913 48982880 - 48686774 48755741 - 1580863;1600291;2292537;2292541;2289157;2302177;2302176;2292545;2292539;1566529;6480464;7240710;8554872;8699517 11857565;11994539;12679452;15044717;15967102;17692113;17709176;2502842;8929952 10215412;10342833;10493819;10580072;10617611;11445554;11867621;11943741;11988313;12036966;12040016;12088926;12091390;12242044;12270268;12444891;12450321;12519858;12727981;12770743;12816543;12843195;12850276;12933660;12972613;14507927;14594799;14605099;14764820;15016840;15031322;15084485;15169923;15292356;15304492;15304512;15539429;15607529;15788387;15878956;15889138;15890674;15908694;16135786;16332935;16344560;1651314;16709601;16837644;16943418;17045393;17045394;17052834;17055147;17074323;17092637;17293445;17458905;17548147;17556863;17609213;18162522;18217981;18240029;18300940;18313839;18372343;18411916;18433292;18439297;18508780;18577758;18596044;18641392;18647647;18758818;18767927;18772599;18848524;18971217;19010824;19064572;19086053;19129711;19147490;1922095;19246536;19356624;19394610;19403562;19453261;19492585;19508998;19551906;19574343;19598235;19616090;19636197;20173016;20374734;20424473;20444430;20570710;20634197;20646984;20716560;20734064;20835841;21147848;21151128;21193408;21330483;21490077;21575145;21622536;21683950;21690095;21711548;21720050;21989932;22002533;22207559;22245602;22260850;22309849;22355044;22356187;22369774;2244890;2249480;2254302;22546001;22659248;22829776;22882535;22885925;22902918;2293030;23044874;23071612;23118426;23225038;23285091;23433069;23537643;23779096;23825122;23884663;23951246;24014605;24365330;24438591;24527662;24554412;2791656;3470775;7556872;7629248;7692306;7714085;7719343;7757065;8281137;8559204;8747461;8829636;9215288;9238862;9435458;9467560;9514160;9528938;9558473;9626144;9626653;9661624;9851790;9858858 3973 E7ENI1;E7EQB5;E7ESK4;H7C226;P22888;R4GN57 ABBA01075197;ABBA01075198;AC073082;AC087816;AF024642;AF082076;AK123498;AMYH02003785;AMYH02003786;BX101581;CH471053;DA376746;KF456667;M63108;M73746;NG_008193;NG_033050;NM_000233;S57793;X84753;X84763;XM_005264309;XM_006712015 AAA59515;AAA70231;AAB19917;AAB88417;AAC98291;AAI56304;AAI57029;AAX88979;AAY15065;CAA59234;EAX00190;EAX00191;EAX00192;NP_000224;P22888;XP_005264366;XP_006712078 Hs.468490 1744715;1744727;1744923;1760415;2110955;2132417;2141304;5017923;5096100 073WF3;D2S215E;D2S2593;GDB:554779;GDB:555464;GDB:581104;LHCGR;RH17720;SHGC-142551 FLJ41504;HHG;LCGR;LGR2;LH/CG-R;LH/CGR;LHR;LHRHR;LSH-R;ULG5 OTTHUMP00000159570;OTTHUMP00000200502;OTTHUMP00000200503;OTTHUMP00000200504;OTTHUMP00000200506;hypergonadotropic hypogonadism;lutropin-choriogonadotropic hormone receptor;lutropin/choriogonadotropin receptor APPROVED protein-coding ENSG00000138039 HGNC:6585 01073 152790;176410;238320 REVIEWED 1343394 LHON Leber optic neuropathy 3974 HGNC:6591 1347478 LHFPL5 lipoma HMGIC fusion partner-like 5 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008] 6 6 6 p21.31 37327661 37346425 + 35773071 35791852 + 35805294 35824075 + 6480464;7240710;8554872;8699517 12477932;15905332;16459341;19102128;20301607;21816241 222662 Q8TAF8 ABBA01038243;AK126841;AL157823;AMYH02013545;AMYH02013546;BC028630;CH471081;NG_012184;NM_182548 AAH28630;ABM82134;ABM85317;BAG54378;EAX03852;NP_872354;Q8TAF8 Hs.367947 DFNB67;MGC33835;TMHS;dJ510O8.8 LHFP-like protein 5;OTTHUMP00000016278;lipoma HMGIC fusion partner-like 5 protein;tetraspan membrane protein of hair cell stereocilia APPROVED protein-coding ENSG00000197753 HGNC:21253 13989 609427;610265 REVIEWED 732963 LHX1 LIM homeobox 1 This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010] 17 17 17 q12 32116628 32122623 + 35294772 35301915 + 36937475 36944615 + 1580863;6480464;8554872 10623575;11882901;12438757;12477932;12642491;15489334;16022279;16625196;19615554;19849868;19889212;20797712;21132009;21778788;22217964;22231913;22740494;22875024;23954021;7700351;8954926;9212161;9452425;9890059 3975 P48742;Q58F18 ABBA01012433;AC023315;AC025882;AC243773;AK298253;AK308646;BC020470;BC036856;BC101674;BC111936;BE612590;BF512551;CH471199;NM_005568;U14755 AAA21644;AAH20470;AAI01675;AAI11937;ABZ92015;BAG60518;EAW57574;NP_005559;P48742 Hs.443727 2163520 RH71201 LIM-1;LIM1;MGC126723;MGC138141;hLim-1 LIM homeobox protein 1;LIM/homeobox protein Lhx1;OTTHUMP00000164082;homeobox protein Lim-1 APPROVED protein-coding ENSG00000273706 HGNC:6593 09067 601999 REVIEWED 1604456 LHFPL4 lipoma HMGIC fusion partner-like 4 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. [provided by RefSeq, Jul 2008] 3 3 3 p25.3 9474743 9530187 - 9540045 9595486 - 9498361 9553802 - 6480464;8554872 12477932;15905332;20379614 375323 Q7Z7J7 ABBA01020408;ABBA01020409;ABBA01020410;ABBA01020411;AC018506;AC026194;AMYH02006234;AY278320;BC029607;BC113964;CH471055;NM_198560 AAP37013;EAW63964;NP_940962;Q7Z7J7 Hs.56782 MGC133162;RP11-58B17.2 LHFP-like protein 4;OTTHUMP00000207205;lipoma HMGIC fusion partner-like 4 protein APPROVED protein-coding ENSG00000156959 HGNC:29568 17361 610240 REVIEWED 6766895 LHFPL3-AS2 LHFPL3 antisense RNA 2 7 7 7 99340764 99372773 - 104535075 104567092 - 104894628 104926645 - 723809 ABBA01057964;ABBA01057965;AC007384;AMYH02016465;BC050337;CH236947;NR_027374 Hs.124316 1338411;2171844;7185198 D7S1530;WI-5394 APPROVED ncrna HGNC:44106 PREDICTED 1349891 LHFPL3 lipoma HMGIC fusion partner-like 3 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008] 7 7 7 q22.2 98775122 99354695 + 103969104 104549005 + 104328656 104908558 + 6480464;8554872 10329012;12477932;12690205;14702039;15905332;19401682;20379614;21552555;23722424;9847074 375612 A1L384;C9JA52;Q86UP9 ABBA01057965;ABBA01057966;ABBA01057967;ABBA01057968;ABBA01057969;ABBA01057970;ABBA01057971;ABBA01057972;ABBA01057973;ABBA01057974;AC000117;AC002432;AC007384;AC007558;AC079796;AC091286;AK124251;AK299759;AMYH02016457;AMYH02016458;AMYH02016459;AMYH02016460;AMYH02016461;AMYH02016462;AMYH02016463;AMYH02016464;AMYH02016465;AW296968;AY260763;BC129937;BC129938;BC129941;CH236947;KF458532;KF459907;KF510966;NM_199000;XM_005250327;XM_005250329 AAI29938;AAI29939;AAI29942;AAP14954;BAG61648;EAL24407;NP_945351;Q86UP9;XP_005250384;XP_005250386 Hs.659164 1299899;1338390;1339800;1650913;1651642;1656645;1672044;1722159;1722989;1732545;1751599;1770473;1771659;1786350;1795760;1851223;1855055;2110487;2131881;2132276;2139082;2147463;2161315;2171844;2180655;5021892;7185564;7186803 D7S1493;D7S1629;D7S1799;D7S2353;D7S2446;D7S2494;D7S2705;EIF4E_1193;G10704;G20190;G31696;G31784;G60129;G60594;GDB:1317168;GDB:1318012;GDB:1318468;GDB:3755033;GDB:4585119;LHFPL3__6394;RH69391;SHGC-105590;SHGC-156069;STS-N33569;WI-5394;ha2344 LHFPL4 LHFP-like protein 3;OTTHUMP00000211895;lipoma HMGIC fusion partner-like 3 protein;lipoma HMGIC fusion partner-like 4 APPROVED protein-coding HGNC:6589 17273 609719 REVIEWED 733849 LHX2 LIM homeobox 2 This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008] 9 9 9 q33.3 97421143 97442696 + 126773889 126795572 + 124011610 124033163 + 1580863;6480464 10051612;10431247;10593900;11069920;12477932;14702039;15489334;20211142;20949537;21203406;22535646;23804753;23966867;8649822;9697309 9355 B3KNJ5;H0YM35;H7C0H1;P50458;U3KQT5 ABBA01043739;AC006450;AK027597;AK094511;AL158052;AMYH02021620;AMYH02021621;BC034458;BC093662;BC112185;CH471090;NM_004789;U11701;XM_006717323 AAB08752;AAH93662;AAI12186;ABZ92216;BAC04371;BAG51357;EAW87576;EAW87577;NP_004780;P50458;XP_006717386 Hs.696425 1797818;2153722 LHX2_2239;NIB1517 LH2;MGC138390;hLhx2 LIM HOX gene 2;LIM homeobox protein 2;LIM/homeobox protein Lhx2;OTTHUMP00000022092;OTTHUMP00000022093;homeobox protein LH-2 APPROVED protein-coding ENSG00000106689 HGNC:6594 04786 603759 REVIEWED 1352685 LHX3 LIM homeobox 3 This gene encodes a member a large protein family which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 9 9 9 q34.3 109606466 109615325 - 139088096 139096955 - 136196250 136205109 - 1580863;6480464;7240710;8554872;8699517 10431247;10593900;10598593;10717474;10788441;10818088;10835633;10903894;11470784;11882901;12477932;12642495;14646405;14714741;15271874;15517599;15567726;15865204;16179410;16394081;16613990;17327381;18407919;18583962;19126629;20189936;20534763;21249393;21697133;22194342;22238406;22286346;22503243;23408906;23766128;24100213;7626792;7665181;8889548;9452425 8022 F1T0D5;F1T0D7;F1T0D9;Q9UBR4 AB593062;AB593063;AB593064;AB593065;AB593066;AB593067;ABBA01030064;ABBA01030065;AF096169;AF156888;AF156889;AF211950;AF214637;AF367089;AL138781;AMYH02021896;BM665174;BM799949;BU165468;CH471090;NG_008097;NM_014564;NM_178138;XM_005263410;XR_244777 AAF17292;AAF26412;AAF36808;AAF36809;AAG10399;AAI52819;AAI56736;AAL26314;BAJ84009;BAJ84010;BAJ84011;BAJ84012;BAJ84013;BAJ84014;EAW88205;EAW88206;NP_055379;NP_835258;Q9UBR4;XP_005263467 Hs.148427 2177917 WI-14818 CPHD3;DKFZp762A2013;LIM3;M2-LHX3 LIM homeobox protein 3;LIM/homeobox protein Lhx3;LIM/homeodomain protein LHX3;OTTHUMP00000022567;OTTHUMP00000022568 APPROVED protein-coding ENSG00000107187 HGNC:6595 02783 221750;600577 REVIEWED 1606248 LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase ENCODES a protein that exhibits inorganic diphosphatase activity; protein homodimerization activity; magnesium ion binding (ortholog); INVOLVED IN phosphate-containing compound metabolic process; protein dephosphorylation (ortholog); PARTICIPATES IN oxidative phosphorylation pathway; FOUND IN cytoplasm; cytosol; nucleus; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; aflatoxin B1; benzo[a]pyrene 10 10 10 q26.13 119922531 120076588 + 126150341 126302710 + 124461772 124614141 + 6480464;6907045 12477932;12801912;14702039;16385451;16430861;18029348;18268499;20379614;22443383;22589738;23251661;23648065 64077 Q5T1Z0;Q9H008 ABBA01034143;ABBA01034144;ABBA01034145;ABBA01034146;ABBA01034147;ABBA01034148;AK055532;AL391708;AL445237;AL513190;AMYH02023976;AMYH02023977;BC007324;BC073172;BC110344;BC113629;BC113631;CH471066;EF151005;NM_001167880;NM_022126;XM_005270025;XM_005270026;XM_005270027;XM_006717943 AAI10345;AAI13630;AAI13632;ADR82914;BAG51532;EAW49264;EAW49265;EAW49266;EAW49267;EAW49268;EAW49269;NP_001161352;NP_071409;Q9H008;XP_005270082;XP_005270083;XP_005270084;XP_006718006 Hs.527748 1335655;1671656;1671658;1730241;1763697;1765575;1782156;2176820 A005K22;D10S2322;D10S237E;G20284;RH44275;SHGC-147372;SHGC-149036;SHGC-155528 FLJ44846;FLJ46044;HDHD2B;MGC117251;MGC142189;MGC142191;hLHPP OTTHUMP00000020691;OTTHUMP00000020692;OTTHUMP00000020693 protein-coding ENSG00000107902 HGNC:30042 17274 VALIDATED 1606630 LHX8 LIM homeobox 8 The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 1 1 1 p31.1 73839451 73872551 + 75594119 75627218 + 75128434 75161533 + 6480464;8554872 10611327;12477932;14702039;16327884;16690745;17207965;17305537;17624344;18574220;18978678;20082688;20572854;20634891;20672350;21143530;21462296;21856374;22204396;22435649;23455924;24316404;9598319 431707 Q68G74 AB050476;ABBA01074422;AC099786;AK094667;AMYH02001275;AY449521;AY449522;AY449523;BC036423;BC040321;CH471059;NM_001001933;NM_001256114 AAH40321;AAR18074;AAR18075;ADQ31972;BAB40306;EAX06405;NP_001001933;NP_001243043;Q68G74 Hs.403934 1765973;2180995 SHGC-149363;SHGC-6203 Lhx7 LIM homeobox protein 8;LIM-homeodomain protein Lhx8;LIM/homeobox protein Lhx8;OTTHUMP00000011261;OTTHUMP00000011262 APPROVED protein-coding ENSG00000162624 HGNC:28838 17275 604425 REVIEWED 1317585 LHX4 LIM homeobox 4 This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010] 1 1 1 q25.2 153306698 153351434 + 180199433 180244188 + 180230298 180275053 + 6480464;7240710;8554872;8699517 10788441;11567216;11844481;12118377;12477932;14714741;15567726;15998782;17527005;17667940;18053794;18073311;18330356;18445675;19856252;20211142;20534763;20800603;21270112;21965270;22232309;23029363;23199197;7913017 89884 H0YKF4;Q969G2 AB037683;AB055703;AB055704;ABBA01027796;AF179849;AF282899;AF405430;AL139141;AMYH02002241;AMYH02002242;AY053457;AY817172;AY817173;AY817174;BC011759;BX954266;CH471067;NG_008081;NM_033343 AAH11759;AAK69169;AAK70923;AAL07260;AAM91896;AAV67806;AAV67807;AAV67808;ABM83830;ABM87154;BAB62817;BAB62818;BAC01272;EAW91078;NP_203129;Q969G2 Hs.658487 1670537;1797820;2124398;2132250;2132252;2177013 A006H48;AL009306;G20828;LHX4_2030;SHGC-75972;WI-15451 CPHD4;FLJ22769;Gsh-4;Gsh4 LIM homeobox protein 4;LIM/homeobox protein Lhx4;OTTHUMP00000033083 APPROVED protein-coding HGNC:21734 03686 262700;602146 REVIEWED 1316364 LIAS lipoic acid synthetase The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 4 4 4 p14 39898493 39917063 + 39460644 39479273 + 39458989 39477653 + 1580863;6480464;6907045;8699517;7240710;8554872 11124703;11389890;12477932;15489334;17207965;18029348;19074983;20877624;22152680;24334290 11019 B4E0L7;D6RCP8;O43766;Q6P5Q6 ABBA01004125;ABBA01004126;AC021148;AI373464;AJ224162;AK026289;AK291985;AK292238;AK303429;AL528262;AMYH02009054;AMYH02009055;AV729111;BC023635;BC062751;BF434814;CH471069;HC916357;HC916375;NG_032111;NM_001278590;NM_001278591;NM_001278592;NM_006859;NM_194451;XM_006713990 AAH23635;AAH62751;ADQ32257;BAF84674;BAF84927;BAG64479;CAA11859;CBN72404;CBN72413;EAW92932;EAW92933;EAW92934;NP_001265519;NP_001265520;NP_001265521;NP_006850;NP_919433;O43766;XP_006714053 Hs.550502 2108809;5015961 D15S1477;LIAS_9211 HUSSY-01;LAS;LIP1;LS;MGC23245;PDHLD OTTHUMP00000125208;OTTHUMP00000125209;OTTHUMP00000218431;OTTHUMP00000218432;lip-syn;lipoate synthase;lipoic acid synthase;lipoyl synthase, mitochondrial APPROVED protein-coding ENSG00000121897 HGNC:16429 09514 607031;614462 REVIEWED 1314642 LHX6 LIM homeobox 6 This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and may be involved in the control of differentiation and development of neural and lymphoid cells. Two alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95613158 95639326 - 124964856 124991166 - 122202577 122228887 - 6480464 10393337;11076863;11230166;11256614;12477932;14702039;15164053;15489334;15489336;16344560;16381901;16732332;20201926;20379614;20428825;21240459;22435649;23229549;24157876 26468 H0YKH7;H0YMH3;H0YMY8;Q9UPM6 AB031041;AB031042;ABBA01043709;ABBA01043710;AI265821;AK126982;AK289827;AK297175;AK299709;AK313808;AL136570;AL162424;AMYH02021586;BC103936;BC103937;BC103938;CH471090;DA799524;NG_029683;NM_001242333;NM_001242334;NM_001242335;NM_014368;NM_199160;XM_005251915;XM_005251916 AAI03937;AAI03938;AAI03939;ABZ92229;BAA83422;BAA83423;BAF82516;BAG36544;BAH12516;BAH13108;CAB66505;CAL37575;CAL38240;EAW87515;EAW87516;EAW87517;NP_001229262;NP_001229263;NP_001229264;NP_055183;NP_954629;Q9UPM6;XP_005251972;XP_005251973 Hs.103137 1664269;1797822 LHX6_2099;RH36482 LHX6.1;MGC119542;MGC119544;MGC119545 LIM homeobox protein 6;LIM homeodomain protein 6.1;LIM/homeobox protein Lhx6;LIM/homeobox protein Lhx6.1;OTTHUMP00000022046;OTTHUMP00000022047;OTTHUMP00000022048;OTTHUMP00000196635 APPROVED protein-coding ENSG00000106852 HGNC:21735 10498 608215 REVIEWED 7246675 LIFR-AS1 LIFR antisense RNA 1 5 5 p13.1 38556888 38671318 + 38556786 38671216 + 12477932 100506495 ABBA01024201;ABBA01024202;AC010425;AC091823;AMYH02011191;AMYH02011192;AMYH02011193;AMYH02011194;AMYH02011195;BC038371;BC045578;BG771462;HG497896;HG497897;KC876959;KC876963;NR_103553;NR_103554 Hs.657602 1686048;1851607 D5S2614;RH65436 ncrna ENSG00000244968 HGNC:43600 VALIDATED 1353192 LIG2 ligase II, DNA, ATP-dependent ASSOCIATED WITH UROFACIAL SYNDROME 2 (inferred) 7240710 3979 HGNC:6599 615112 1354474 LHX9 LIM homeobox 9 This gene encodes a member of the LIM homeobox gene family of developmentally expressed transcription factors. The encoded protein contains a homeodomain and two cysteine-rich zinc-binding LIM domains involved in protein-protein interactions. The protein is highly similar to a mouse protein that causes gonadal agenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 1 1 1 q31.1 171004535 171021892 + 197881635 197904606 + 197912505 197935476 + 1580863;6480464 11397841;12477932;14702039;15761153;16710414;19545367;19568415;7566098;9880598 56956 H0Y330;H0YL54;Q9NQ69 AA316988;ABBA01027585;AJ277914;AJ277915;AJ277916;AJ296272;AK097614;AL590115;AMYH02002440;AMYH02002441;AY273889;BC131622;CH471067;NM_001014434;NM_020204;XM_005245349;XM_005245350;XM_006711459;XM_006711460 AAI31623;AAP32471;CAB97493;CAB98128;CAC33174;EAW91287;EAW91288;EAW91289;EAW91290;EAW91291;EAW91292;NP_001014434;NP_064589;Q9NQ69;XP_005245406;XP_005245407;XP_006711522;XP_006711523 Hs.442578;Hs.706475 1797824;5492298 LHX9_2217;Lhx9 LIM homeobox protein 9;LIM/homeobox protein Lhx9;OTTHUMP00000033675;OTTHUMP00000033676;OTTHUMP00000033677;OTTHUMP00000033678 APPROVED protein-coding HGNC:14222 07299 606066 REVIEWED 731763 LIG1 ligase I, DNA, ATP-dependent This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 19 19 19 q13.2-q13.3 45483843 45538716 - 48618702 48673852 - 48115445 48170603 - 1600089;1580863;1358139;2306716;6480464;6907045;7246935 1351188;18157157;21601536 10523317;10559261;10827190;11948189;12009232;12171929;12200445;12477932;12851383;14627836;15302935;15489334;15565146;1581963;15871698;15907772;15958648;16169070;16731526;16907646;16964243;17081983;17108146;17203305;1733856;17494052;18059021;18440984;18655026;18676680;18709642;1881902;18990028;19064572;19116388;19124499;19170196;19223467;19223468;19237606;19471022;19523882;19536092;19573080;19597347;19625176;19628465;19661089;19692168;19773279;19913121;20006844;20150366;20226869;20453000;20496165;20574454;20575039;20628086;20813000;21139048;21561855;21890473;21900206;21906983;21963094;2197279;2204063;22139380;22863883;22918593;22952233;23000965;23339595;23620595;24084463;24816145;24958773;7489727;8125298;8432525;8530104;8557490;8696349;9081985;9111189;934827;9539976;9649448;9809069 3978 B4DM52;B4DTU4;B4E135;F5GZ28;M0QY71;M0R0Q7;M0R1G7;M0R1S4;M0R254;P18858 AB103328;AB208791;ABBA01033009;ABBA01033010;AC011466;AF527418;AK225863;AK297296;AK300370;AK300607;AK303644;AK314210;AMYH02036285;AMYH02036286;BC108318;BC110622;CH471177;KC877741;M36067;NG_007395;NM_000234;NM_001289063;NM_001289064;NR_110296;XM_005258934;XM_006723215;XM_006723216;XM_006723217;XR_243932;XR_243934;XR_430200;XR_430201 AAA59518;AAI08319;AAI10623;AAM77697;BAC81763;BAD92028;BAG36885;BAG59764;BAG62106;BAG62303;BAG64647;EAW52316;EAW52317;NP_000225;NP_001275992;NP_001275993;P18858;XP_005258991;XP_006723278;XP_006723279;XP_006723280 Hs.1770 1783790;2180803 SHGC-12449;SHGC-132086 MGC117397;MGC130025 DNA ligase 1;dna ligase i;polydeoxyribonucleotide synthase ATP 1;polydeoxyribonucleotide synthase [ATP] 1 APPROVED protein-coding ENSG00000105486 HGNC:6598 00534 126391 REVIEWED 8656422 LHX4-AS1 LHX4 antisense RNA 1 INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 1 1 180238798 180243816 - 180269663 180274681 - 6480464 12477932;14702039;8889548 100527964 ABBA01027796;AK096250;AL139141;AMYH02002242;BC092502;CB240965;NR_037642 Hs.496545 ncrna ENSG00000230124 HGNC:40982 VALIDATED 1348933 LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 19 19 19 q13.4 52145583 52153010 + 55105041 55113846 + 54593576 54602381 + 1580863;6480464;8554872 10781084;10941837;11698424;12477932;15304001;15489334;16344560;17998301;18273033;19658091;20237496;20331378;20595277;20634939;21270408;21388353;21547531;21559424;9548455 11024 O75019 ABBA01068150;ABBA01068151;AC009892;AC245036;AF025529;AF025530;AK290919;AK310122;AK311226;BC032238;BC047007;BC063009;BC093708;BC101514;CH471135;CS540238;CU024913;CU234142;DA999265;EU915602;NM_001278318;NM_001278319;NM_006863;NR_103501;NR_103502;NR_103503;XM_006722979;XM_006722980;XM_006722981;XM_006722982;XM_006726171;XM_006726172;XM_006726173;XM_006726174;XM_006726258;XM_006726259;XM_006726260;XM_006726261;XM_006726294;XM_006726295;XM_006726296;XM_006726297 AAB87663;AAB87664;AAH93708;AAI01515;ACK56068;BAF83608;CAM90896;EAW72261;EAW72262;EAW72263;EAW72264;EAW72265;NP_001265247;NP_001265248;NP_006854;O75019;XP_006723042;XP_006723043;XP_006723044;XP_006723045;XP_006726234;XP_006726235;XP_006726236;XP_006726237;XP_006726321;XP_006726322;XP_006726323;XP_006726324;XP_006726357;XP_006726358;XP_006726359;XP_006726360 Hs.710507 1799580;1800796;1809396;1809486;1809836;1810618;1812368;1815162;1818228;1819014;1819454;1831640;1834212;1840004;2042052;2042340;2042440;2042446;2042448;2042456;2042464;2044676;2044790;2044792;2044794;2044796;2044798;2044800;2044802;2044804;2044806;2044808;2044810;2044812;2044814;2044816;2044818;2044820;2044822;2044824;2044826;2044828;2044830;2044832;2044834;2044836;2044838;2044840;2044842;2044844;2044846;2044848;2044850;2044852;2044854;2044856;2044858;2044860;2044862;2044864;2044866;2044868;2044870;2044872;2044874;2045094;2045110;2045118;2045120;2103820;2104112;2104114;2104116;2104118;2104120;2104134;5014257;5022347;5022355;5037738;5038158;5038160;5105018 D1S3689;ECD00082;ECD00642;ECD00660;ECD01260;ECD05690;ECD05735;ECD05910;ECD06302;ECD07191;ECD08615;ECD10171;ECD10573;ECD10794;ECD16957;ECD18254;ECD21186;REN92065;REN92213;REN92265;REN92266;REN92269;REN92270;REN92274;REN92278;REN93396;REN93455;REN93456;REN93457;REN93458;REN93459;REN93460;REN93461;REN93462;REN93463;REN93464;REN93465;REN93466;REN93468;REN93469;REN93470;REN93471;REN93472;REN93473;REN93476;REN93477;REN93478;REN93479;REN93480;REN93481;REN93482;REN93483;REN93484;REN93485;REN93486;REN93487;REN93488;REN93489;REN93490;REN93491;REN93492;REN93493;REN93494;REN93495;REN93496;REN93497;REN93498;REN93499;REN93500;REN93501;REN93502;REN93615;REN93623;REN93627;REN93628;stSG605942;stSG605948;stSG606186;stSG606187;stSG606188;stSG606189;stSG606191;stSG606206 CD85I;LIR-6;LIR6;MGC126563 CD85 antigen-like family member I;OTTHUMP00000068393;OTTHUMP00000195917;leukocyte immunoglobulin-like receptor 6;leukocyte immunoglobulin-like receptor subfamily A member 1;leukocyte immunoglobulin-like receptor subfamily A member 1 soluble isoform protein-coding ENSG00000104974 HGNC:6602 07272 604810 REVIEWED 1354198 LIFR leukemia inhibitory factor receptor alpha This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 p13-p12 38361644 38482099 - 38475065 38595507 - 38474963 38595405 - 1581860;1600614;1581858;1580863;6480464;6907045;7240710;8554872;8699517 14740318;15786720;16698589 10101017;10383413;10800945;10854707;10858440;11042511;11285233;11730732;11812136;11834704;11834739;11943154;12047380;12574225;12601009;12643274;12707266;12707269;14504285;15044601;15180980;15184896;15342556;1536831;1542794;16051226;16344560;16759928;16949591;17028186;17332938;17436251;18775332;1915266;19453261;19733004;19879916;20237496;20639865;20654748;21617854;21963094;21966484;21971603;22268729;22535017;22829597;23000965;23001183;23382563;23579219;24074901;7512571;7777512;7957045;8276403;8547494;8583009;8864865;8999038;9346946;9525740;9920829 3977 A8K1Z4;D6RF33;D6RJ94;H0YAF2;P42702 ABBA01024200;ABBA01024201;AC010457;AC091823;AK290059;AK308158;AK309882;AMYH02011187;AMYH02011188;AMYH02011189;AMYH02011190;AMYH02011191;BP219669;BQ008945;BX648635;CH471119;DA835819;DA857408;NG_011817;NM_001127671;NM_002310;U66563;X61615 AAB61897;AAI41429;AAI53097;BAF82748;CAA43805;EAW55972;NP_001121143;NP_002301;P42702 Hs.133421 1647235;1652084;1682113;1684716;1686048;1686078;1686582;1689600;1735438;1735552;1777496;1781194;1794310;1796248;2121800;2125117;2178958;2185600 D5S1570E;D5S1675E;D5S2471;D5S2642;G19191;LIFR_185;PMC311006P4;RH26031;RH41252;RH48815;RH65436;RH65837;RH91753;RH93532;SHGC-52479;SHGC-60516;STS-R38064;human.LIFR CD118;FLJ98106;FLJ99923;LIF-R;SJS2;STWS;SWS CD118 antigen;LIF receptor;OTTHUMP00000161786;OTTHUMP00000221308;leukemia inhibitory factor receptor APPROVED protein-coding ENSG00000113594 HGNC:6597 01048 151443;601559 REVIEWED 732692 LHX5 LIM homeobox 5 This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. [provided by RefSeq, Jul 2008] 12 12 12 q24 113527582 113536765 - 113900694 113909877 - 113462889 113472072 - 1580863;6480464 10325223;11137295;11566211;12477932;12782966;15489334 64211 Q9H2C1 ABBA01019960;AC009773;AF291181;AMYH02027241;BC109230;CH471054;NM_022363 AAG36963;AAI09231;EAW98060;NP_071758;Q9H2C1 Hs.302029 MGC129689 LIM homeobox protein 5;LIM/homeobox protein Lhx5;OTTHUMP00000241528 APPROVED protein-coding HGNC:14216 09344 605992 REVIEWED 736774 LIF leukemia inhibitory factor The protein encoded by this gene is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 22 22 22 q12.2 14436129 14442479 - 30636436 30642840 - 30240447 30257381 - 1580863;2326063;2326053;2326058;6480464;6907045 18042242;20051627;20221422 10205054;10591208;11448119;11587067;11811789;11855863;12089333;12153570;12218157;12477932;12574225;12579339;12601009;12643274;12707269;12764151;12807438;14527405;14557674;14647442;14687743;14715713;15044601;15146197;15180980;15341921;15342941;15489334;15543003;15670782;15731310;15837065;15905624;16051226;16263181;16295654;16341766;16489116;16545901;16648972;16759928;1692837;16949591;17000646;17054938;1714745;17332938;17411373;17652170;17671691;17681328;17702963;17848619;17966612;17979974;18029348;18047677;18048043;18258286;18298054;18317962;18468598;18492704;18540977;18637760;18639869;18684446;18953658;19011087;19086053;19213836;19251277;19255255;19342253;19361790;19374770;19453261;19470478;19495417;19541590;19545488;19548631;19550366;19647472;19704963;19751193;19879916;19913121;19915574;20074285;20237496;20396801;20570039;20587610;20597819;20618183;20628086;20734064;20851233;21129244;21155043;21178106;21191816;21399633;21527666;21570299;21613225;21726338;21745467;21966484;21987111;22142941;22252755;22285730;22323722;22341639;22436290;22520363;22537815;22649064;22698642;22712053;22720020;22835519;22905257;23122949;23128233;23541977;23628981;23687977;23729555;23831429;23867815;23876532;24074901;24270418;24310780;24664722;24690239;2475312;2491897;2730639;3128791;3143916;3143918;7508917;7867561;7957045;8058719;8489250;8999038;9349722;9593715;9847074;9920829 3976 P15018 ABBA01055293;AC004264;AI796373;AK315310;AMYH02038214;BC069540;BC093733;BC093735;BC143305;CH471095;CK819709;CN409458;J03261;M27053;M63420;NG_008721;NM_001257135;NM_002309;X13967;XM_005261601;XM_006724240 AAA51699;AAA53188;AAA59517;AAC05174;AAH69540;AAH93733;AAH93735;BAG37714;CAA32147;EAW59863;NP_001244064;NP_002300;P15018;XP_005261658;XP_006724303 Hs.2250 1687379;1761299;2146677;5117857;5117859 GDB:624823;GDB:625815;RH27829;SHGC-145300;SHGC-7772 CDF;DIA;MLPLI D factor;HILDA;OTTHUMP00000198698;cholinergic differentiation factor;differentiation inhibitory activity;differentiation stimulating factor;differentiation-inducing factor;differentiation-stimulating factor;hepatocyte-stimulating factor III;human interleukin in DA cells;melanoma-derived LPL inhibitor 2314778 GLUCO97_H APPROVED protein-coding ENSG00000128342 HGNC:6596 08869 159540 REVIEWED 1312194 LIG4 ligase IV, DNA, ATP-dependent The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 13 13 13 q33-q34 89704529 89715460 - 108859790 108870716 - 108207442 108218368 - 1580863;1600305;2317363;6480464;6907045;7240710;8694072;8662352;8554872;8694074 12471202;19147782;19451691;20192759;24282031 10395545;10608806;10757784;10854421;10945980;11349135;11702069;11779494;11809878;12023982;12036913;12077346;12091904;12150897;12361565;12477932;12517771;12547193;12549820;12589063;12682366;12750264;14578164;15057823;15126335;15194694;15256476;15333585;15385968;15489334;15509577;15520013;15609317;15958648;16291214;16357942;16407418;16412978;16439205;16485136;16571728;16638864;16735143;16857995;17018785;17241822;17290226;17353931;17396150;17492771;17541392;17567543;17963495;18029348;18165945;18270339;18440984;18508926;18579371;18830263;18845326;18951430;18952251;18990028;19064572;19074885;19092295;19116388;19124506;19127255;19142223;19251090;19332554;19408343;19418549;19536092;19573080;19604268;19638463;19661089;19692168;19727724;19773279;19789190;19837014;19859091;20150366;20368557;20400235;20453000;20496165;20496270;20522537;20568250;20610542;20644561;20731661;20811692;20813000;21717429;21974800;21982441;21988832;22534089;22658747;22990118;22994770;23219551;23275564;23630330;23663450;23794378;23967291;23994631;24123394;24530422;24778252;24816145;7760816;8798671;9242410;9259561;9259651;9705934;9809069 3981 P49917 ABBA01027024;ABBA01027025;AF479264;AI809944;AK292419;AK314844;AL157762;AMYH02028678;AMYH02028679;BC037491;BX648833;CD102896;CH471085;NG_007396;NM_001098268;NM_002312;NM_206937;X83441;XM_005254056;XM_005254057;XM_005254058;XM_006719950;XM_006719951;XM_006719952 AAH37491;AAL77435;ABM83400;ABM86612;BAF85108;BAG37361;CAA58467;EAX09094;EAX09095;EAX09096;NP_001091738;NP_002303;NP_996820;P49917;XP_005254113;XP_005254114;XP_005254115;XP_006720013;XP_006720014;XP_006720015 Hs.166091 1678893;1736364;1788086;1788088;1796250;2170715;2186898;5094995 D13S1452;D13S870E;G67233;G67234;LIG4;LIG4_354;RH98317;SGC35475 LIG4S DNA joinase;DNA ligase 4;DNA ligase IV;DNA repair enzyme;OTTHUMP00000018690;polydeoxyribonucleotide synthase [ATP] 4;polynucleotide ligase;sealase APPROVED protein-coding ENSG00000174405 HGNC:6601 03500 254500;601837;602450;606593 REVIEWED 1354395 LILRA3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 This gene encodes a member of a family of immunoreceptors that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane region found in other members of this family. It acts as a soluble receptor for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and is polymorphic in human populations, with many individuals containing a deletion of this genomic region. [provided by RefSeq, Mar 2014] 19 19 19 q13.4 51791564 51827851 - 54799854 54804625 - 270968 275379 - 6480464;8554872 10781084;11698424;12121272;12477932;12651072;12750859;15185041;15340161;15489334;15815690;16189514;16501917;18439545;19195718;19421224;19790059;20331378;20595277;20686565;21030649;21270408;21559424;21666788;23023329;23238213;24085305;24363809;24757135;9079806;9151699;9278324;9382880;9548455 11026 Q8N6C8 ABBA01019123;AC010518;AF014923;AF014924;AF025527;AF353733;AF482762;AF482763;AF482764;AF482765;AF482766;AF482767;AF482768;AF482769;AI655471;BC028208;BX280714;CH471135;CU104682;CU467018;NG_034046;NM_001172654;NM_006865;U91926;U91927;XM_005277092;XM_006710242;XM_006726167;XM_006726168;XM_006726169 AAB68666;AAB68667;AAB87661;AAC51885;AAC51886;AAH28208;AAK58867;AAM18035;AAM18036;AAM18037;AAM18038;AAM18039;AAM18040;AAM18041;AAM18042;ABM82001;ABM85184;EAW72225;NP_001166125;NP_006856;Q8N6C8;XP_005277149;XP_006710305;XP_006726230;XP_006726231;XP_006726232 Hs.113277;Hs.624711 1669834;1686881;1757303;1798650;1800796;1802954;1805854;1806062;1806586;1807434;1807436;1808174;1808514;1809152;1809630;1809632;1809770;1809838;1810920;1812742;1815412;1815692;1816122;1820216;1820542;1821520;1821858;1824408;1824642;1826430;1831040;1833258;1833426;1836920;1839530;1839650;1840532;1842324;1843914;1845148;2041902;2041904;2041908;2042074;2042076;2042078;2042080;2042082;2042086;2042088;2042090;2042092;2042094;2042096;2042098;2042100;2042102;2042104;2042106;2042108;2042110;2042112;2042114;2042118;2042120;2042122;2042124;2042126;2042128;2042132;2042134;2042136;2042138;2042140;2042142;2042144;2042146;2042148;2042150;2042152;2042154;2042158;2042160;2042162;2042164;2042166;2042168;2042170;2042174;2042176;2042178;2042180;2042182;2042184;2042186;2042188;2042190;2042192;2042194;2042196;2042198;2042200;2042202;2042204;2042206;2042208;2042210;2042212;2042214;2042216;2042218;2042220;2042222;2042224;2042226;2042228;2042230;2042232;2042234;2042236;2042238;2042240;2042242;2042244;2042246;2042248;2042250;2042252;2042254;2042256;2042258;2042260;2042262;2042264;2042266;2042268;2042270;2042272;2042274;2042276;2042278;2042280;2042282;2042284;2042286;2042288;2042290;2042292;2042296;2042298;2042300;2042302;2042304;2042306;2042460;2042462;2042464;2042466;2042468;2042470;2042472;2042474;2042476;2042478;2042480;2042482;2042484;2042486;2042488;2042490;2042492;2042494;2042496;2042498;2042500;2042502;2042504;2042506;2042508;2042510;2042660;2044688;2044690;2044814;2045154;2045158;2045206;2045208;2045210;2045214;2045216;2103760;2103762;2103770;2103772;2103774;2103776;2103778;2103780;2103782;2103784;2103786;2103788;2103790;2103792;2103794;2103796;2103822;2103824;2103826;2103828;2103830;2119064;2174682;2219168;5105018 A003P13;ECD00165;ECD01260;ECD02367;ECD03879;ECD03984;ECD04250;ECD04688;ECD04689;ECD05068;ECD05239;ECD05565;ECD05807;ECD05808;ECD05877;ECD05911;ECD06458;ECD07382;ECD08742;ECD08884;ECD09101;ECD11182;ECD11346;ECD11846;ECD12015;ECD13302;ECD13419;ECD14329;ECD16656;ECD17771;ECD17856;ECD19624;ECD20947;ECD21008;ECD21453;ECD22365;ECD23168;ECD23791;LILRB5_2728;REN91988;REN91989;REN91991;REN92076;REN92077;REN92078;REN92079;REN92080;REN92082;REN92083;REN92084;REN92085;REN92086;REN92087;REN92088;REN92089;REN92090;REN92091;REN92092;REN92093;REN92094;REN92095;REN92096;REN92098;REN92099;REN92100;REN92101;REN92102;REN92103;REN92105;REN92106;REN92107;REN92108;REN92109;REN92110;REN92111;REN92112;REN92113;REN92114;REN92115;REN92116;REN92118;REN92119;REN92120;REN92121;REN92122;REN92123;REN92124;REN92126;REN92127;REN92128;REN92129;REN92130;REN92131;REN92132;REN92133;REN92134;REN92135;REN92136;REN92137;REN92138;REN92139;REN92140;REN92141;REN92142;REN92143;REN92144;REN92145;REN92146;REN92147;REN92148;REN92149;REN92150;REN92151;REN92152;REN92153;REN92154;REN92155;REN92156;REN92157;REN92158;REN92159;REN92160;REN92161;REN92162;REN92163;REN92164;REN92165;REN92166;REN92167;REN92168;REN92169;REN92170;REN92171;REN92172;REN92173;REN92174;REN92175;REN92176;REN92177;REN92178;REN92179;REN92180;REN92181;REN92182;REN92183;REN92184;REN92185;REN92187;REN92188;REN92189;REN92190;REN92191;REN92192;REN92276;REN92277;REN92278;REN92279;REN92280;REN92281;REN92282;REN92283;REN92284;REN92285;REN92286;REN92287;REN92288;REN92289;REN92290;REN92291;REN92292;REN92293;REN92294;REN92295;REN92296;REN92297;REN92298;REN92299;REN92300;REN92301;REN92376;REN93404;REN93405;REN93468;REN93646;REN93648;REN93673;REN93674;REN93675;REN93677;REN93678;RH25555;RH46519;SHGC-144707;WI-15638;stSG605909;stSG605910;stSG605914;stSG605915;stSG605916;stSG605917;stSG605919;stSG605920;stSG605921;stSG605922;stSG605923;stSG605924;stSG605925;stSG605926;stSG605927;stSG605928;stSG605945;stSG605946;stSG605947;stSG605948;stSG605949;stSG605950 CD85E;HM31;HM43;ILT-6;ILT6;LIR-4;LIR4;e3 CD85 antigen-like family member E;OTTHUMP00000067955;OTTHUMP00000067956;OTTHUMP00000067957;immunoglobulin-like transcript 6;leucocyte immunoglobulin-like receptor;leukocyte immunoglobulin-like receptor 4;leukocyte immunoglobulin-like receptor A3;leukocyte immunoglobulin-like receptor subfamily A member 3;monocyte inhibitory receptor HM43/HM31 APPROVED protein-coding HGNC:6604 10382 604818 REVIEWED 1350932 LILRA2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 This gene encodes a member of a family of immunoreceptors that are expressed predominantly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The encoded protein is an activating receptor that inhibits dendritic cell differentiation and antigen presentation and suppresses innate immune response. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and there is a pseudogene for this gene on chromosome 3. [provided by RefSeq, Mar 2014] 19 19 19 q13.4 52125725 52139495 + 55084469 55099027 + 54572997 54587560 + 6480464;8554872 10781084;12477932;12529506;12970564;14662864;15242876;15342556;15489334;17202177;17207965;17920929;17998301;18056355;18273033;19230061;19658091;20237496;20331378;22479404;8125298;9079806;9548455;9886363 11027 A8MZH0;E9PDF4;Q8N149 ABBA01068151;AC009892;AC245036;AF025531;AF106253;AF106261;AF106269;AF106277;AK130170;AK222651;AK310088;BC017412;BC027916;BP296918;CB046242;CH471135;CS173041;CU024913;CU234142;DA264697;DA465773;DA931441;EU915609;EU915610;NG_034038;NM_001130917;NM_001290270;NM_001290271;NM_006866;U70665;U82275;U82276;U82277;U82278;XM_005258452;XM_005277053;XM_005277231;XM_005278240;XM_006722986;XM_006722987;XM_006722988;XM_006722989;XM_006722990;XM_006726177;XM_006726178;XM_006726179;XM_006726180;XM_006726181;XM_006726182;XM_006726183;XM_006726262;XM_006726263;XM_006726264;XM_006726265;XM_006726266;XM_006726298;XM_006726299;XM_006726300;XM_006726301;XM_006726302;XM_006726303;XM_006726304 AAB87665;AAC50928;AAC51175;AAC51176;AAC51177;AAC51178;AAD17990;AAD17991;AAD50364;AAD50365;AAH17412;AAH27916;ACK56075;ACK56076;ADQ32777;BAD96371;CAJ33701;EAW72257;EAW72258;EAW72259;EAW72260;NP_001124389;NP_001277199;NP_001277200;NP_006857;Q8N149;XP_005258509;XP_005277110;XP_005277288;XP_005278297;XP_006723049;XP_006723050;XP_006723051;XP_006723052;XP_006723053;XP_006726240;XP_006726241;XP_006726242;XP_006726243;XP_006726244;XP_006726245;XP_006726246;XP_006726325;XP_006726326;XP_006726327;XP_006726328;XP_006726329;XP_006726361;XP_006726362;XP_006726363;XP_006726364;XP_006726365;XP_006726366;XP_006726367 Hs.655593;Hs.739156 1807156;1809242;1809486;1809838;1815162;1815692;1815884;1816286;1816906;1817152;1823252;2042050;2042482;2044658;2044660;2044662;2044664;2044666;2044668;2044670;2044672;2044674;2044676;2044678;2044680;2044682;2044684;2044686;2044688;2044690;2044692;2044694;2044696;2044698;2044700;2044702;2044704;2044706;2044708;2044710;2044712;2044714;2044716;2044718;2044720;2044722;2044724;2044726;2044728;2044730;2044732;2044734;2044736;2044738;2044740;2044742;2044744;2044746;2044748;2044750;2044752;2044754;2044820;2044824;2045378;2104098;2104100;2104102;2108201;5022347 ECD00082;ECD04544;ECD05611;ECD05735;ECD05911;ECD08615;ECD08884;ECD08982;ECD09185;ECD09502;ECD09626;ECD12715;LILRA2_7987;REN92064;REN92287;REN93386;REN93387;REN93388;REN93389;REN93390;REN93392;REN93393;REN93394;REN93395;REN93396;REN93399;REN93400;REN93401;REN93402;REN93403;REN93404;REN93405;REN93406;REN93407;REN93408;REN93409;REN93410;REN93411;REN93412;REN93413;REN93414;REN93415;REN93416;REN93417;REN93418;REN93419;REN93420;REN93421;REN93422;REN93423;REN93424;REN93425;REN93426;REN93427;REN93428;REN93429;REN93430;REN93431;REN93432;REN93433;REN93434;REN93435;REN93436;REN93437;REN93471;REN93473;REN93762;stSG606175;stSG606178;stSG606180 CD85H;ILT-1;ILT1;LIR-7;LIR7 CD85 antigen-like family member H;OTTHUMP00000068394;OTTHUMP00000068395;OTTHUMP00000068396;OTTHUMP00000068397;immunoglobulin-like transcript 1;leukocyte immunoglobulin-like receptor 7;leukocyte immunoglobulin-like receptor subfamily A member 2;leukocyte immunoglobulin-like receptor subfamily A member 2 soluble APPROVED protein-coding ENSG00000239998 HGNC:6603 11992 604812 REVIEWED 1320452 LIG3 ligase III, DNA, ATP-dependent This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 17 17 17 q11.2-q12 30217714 30242284 + 33307517 33332088 + 34980498 35005069 + 1580863;2302580;2317363;6480464;6907045;7246935;8554872 17412650;19147782;21601536 10207110;11163244;11281714;11352725;11994275;12477932;12897160;14627836;15205355;15260972;15367657;15653642;15744309;15758953;16195237;16341674;16344560;16442856;16492928;16543152;16609022;17054425;17081983;17108146;17203305;17242407;17353931;17474147;17492771;17643379;18029348;18238776;18313385;18440984;18524993;18676680;19064572;19170196;19305408;19339270;19471022;19536092;19573080;19625176;19661089;19692168;19773279;20009512;20226869;20227374;20379614;20403997;20453000;20496165;20518483;20522537;20574454;20644561;20731661;20813000;20843780;21139048;21252943;21282530;21390132;21620500;21816818;21832049;21890473;21963094;22174317;22242598;22505724;22632162;24250222;24332808;24342190;24457600;24816145;7565692;7760816;8264637;8889548;8978692;9001252;9136882;9363683;9539976;9705932;9809069 3980 E5KLB5;E5KLB6;K7EJR4;K7ELY6;K7ENR9;K7EQB6;K7ERZ5;P49916 AA872458;ABBA01011223;AC004223;AC022903;AF491645;AK125853;AK300363;AK308407;AMYH02033340;AW166526;BC009026;BC068005;BG470103;BM467239;BM726768;BM759573;CH471147;DB100562;HQ204826;HQ204827;HQ204828;HQ204829;HQ204830;HQ204831;HQ204832;HQ204833;HQ204834;HQ204835;HQ204836;HQ204837;HQ204838;HQ204839;HQ204840;HQ204841;HQ204842;HQ204843;HQ204844;HQ204845;HQ204846;HQ204847;HQ204848;HQ204849;HQ204850;HQ204851;HQ204852;HQ204853;HQ204854;HQ204855;HQ204856;HQ204857;HQ204858;HQ204859;HQ204860;HQ204861;HQ204862;HQ204863;HQ204864;HQ204865;NG_029221;NM_002311;NM_013975;U40671;X84740;XM_005257970;XM_005257971;XM_006721896 AAA85022;AAH09026;AAH68005;AAL91592;ADP89974;ADP89975;ADP89976;ADP89977;ADP89978;ADP89979;ADP89980;ADP89981;ADP89982;ADP89983;ADP89984;ADP89985;ADP89986;ADP89987;ADP89988;ADP89989;ADP89990;ADP89991;ADP89992;ADP89993;ADP89994;ADP89995;ADP89996;ADP89997;ADP89998;ADP89999;ADP90000;ADP90001;ADP90002;ADP90003;ADP90004;ADP90005;ADP90006;ADP90007;ADP90008;ADP90009;ADP90010;ADP90011;ADP90012;ADP90013;ADP90014;ADP90015;ADP90016;ADP90017;ADP90018;ADP90019;ADP90020;ADP90021;ADP90022;ADP90023;ADP90024;ADP90025;ADP90026;ADP90027;ADP90028;ADP90029;ADP90030;ADP90031;ADP90032;ADP90033;ADP90034;ADP90035;ADP90036;ADP90037;ADP90038;ADP90039;ADP90040;ADP90041;ADP90042;ADP90043;ADP90044;ADP90045;ADP90046;ADP90047;ADP90048;ADP90049;ADP90050;ADP90051;ADP90052;ADP90053;BAH13269;CAA59230;EAW80197;EAW80198;EAW80199;NP_002302;NP_039269;P49916;XP_005258027;XP_005258028;XP_006721959 Hs.100299 1788530;1788532;2120806;2141494;2217558;5021990;5491639 D10Chm170;G29180;G67577;G67578;LIG3_3259;MARC_3929-3930:996679185:1;WI-11743 LIG2 DNA ligase 3;DNA ligase III;OTTHUMP00000158641;OTTHUMP00000163854;ligase II, DNA, ATP-dependent;polydeoxyribonucleotide synthase [ATP] 3 APPROVED protein-coding ENSG00000005156 HGNC:6600 02966 600940 REVIEWED 1603957 LILRA6 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 INVOLVED IN immune system process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4,6-trinitrobenzenesulfonic acid (ortholog) 19 19 19 q13.4 1190 3686 + 54740469 54746724 - 54236592 54242991 - 6480464;8554872 10941842;12477932;14702039;15057824;15489334;16344560;19617579;20331378;24096970 79168 D3YTC4;F8WCY4;U5XH19;U5XJZ2 ABBA01164705;AC010492;AC245052;AF041262;AF344431;AF344432;AF344436;AF344441;AF344442;AF344443;AF344651;AF344652;AK124026;BC041708;CU104682;CU151838;CU457734;DA463849;DA619934;KC918856;KC918859;KC918864;KC918865;KC918866;KC918867;KC918868;KC918869;KC918871;KC918872;KC918873;KC918874;KC918875;KC918876;KF294245;KF294246;KF294247;KF294248;KF294250;KF294251;KF294252;KF294253;NM_024318;NR_104098;XM_006723379;XM_006723380;XM_006726275;XM_006726310 AAD02204;AAI41550;AAI56795;AAQ14937;AAQ14938;AAQ14942;AAQ14947;AAQ14948;AAQ14949;AAQ14950;AAQ14951;AGY56148;AGY56149;AGY56150;AGY56151;AGY56153;AGY56154;AGY56155;AGY56156;AGZ61980;AGZ61983;AGZ61988;AGZ61989;AGZ61990;AGZ61991;AGZ61992;AGZ61993;AGZ61995;AGZ61996;AGZ61997;AGZ61998;AGZ61999;AGZ62000;NP_077294;Q6PI73;XP_006723442;XP_006723443;XP_006726338;XP_006726373 Hs.688335 1801374;1801640;1801918;1803646;1829690;1834734;2042026;2042028;2042030;2042032;2042034;2042036;2042038;2042040;2042042;2042044;2042046;2042048;2042050;2042052;2042054;2042056;2042058;2042060;2045650;2103718;2103720;2103722;2103724;2103742;2103744;2103746;2103748;2103752;2103754;5015619;5016596;5037552;5096817 D11S3114;D8S2279;ECD01559;ECD01699;ECD01840;ECD02654;ECD02729;ECD15977;ECD18515;GDB:631802;REN92052;REN92053;REN92054;REN92055;REN92056;REN92057;REN92058;REN92059;REN92060;REN92061;REN92062;REN92063;REN92064;REN92065;REN92066;REN92067;REN92068;REN92069;REN93900;stSG605884;stSG605885;stSG605886;stSG605887;stSG605898;stSG605899;stSG605900;stSG605901;stSG605903;stSG605904 CD85b;ILT-8;ILT5;ILT8;LILRB3;LILRB6 OTTHUMP00000069599;OTTHUMP00000194981;immunoglobulin-like transcript 5;immunoglobulin-like transcript 8;leukocyte Ig-like receptor;leukocyte immunoglobulin-like receptor subfamily A member 6;leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6 protein-coding ENSG00000244482 HGNC:15495 13737 VALIDATED 1601693 LILRA5 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 51859270 51865330 - 54818353 54824409 - 54307070 54313139 - 6480464;8554872 10941842;12393390;16675463;19658091;20331378 353514 A6NI73 ABBA01068167;AC008984;AC245884;AF212842;AF324830;AF499916;AF499917;AF499918;AF499919;CH471135;CS300626;CU104682;CU467018;EU915611;EU915612;NM_021250;NM_181879;NM_181985;NM_181986 A6NI73;AAF73849;AAI48659;AAI53204;AAK52451;AAN27925;AAN27926;AAN27927;AAN27928;ACK56077;ACK56078;CAK32290;EAW72226;EAW72227;EAW72228;EAW72229;NP_067073;NP_870994;NP_871714;NP_871715 Hs.710986 1810686;1817384;1818366;1818432;1825048;1827978;1829768;1833752;1842272;2042612;2042614;2042616;2042618;2042620;2042622;2042624;2042626;2042628;2042630;2042632;2042634;2042636;2042638;2042640;2042642;2042644;2042646;2042648;2042650;2042652;2042654;2042656;2042658;2042660;2042662;2042664;2042666;2042668;2042670;2042672;2042674;2042676;2044668;2045216;2103826;2103844;2103846;2103848 ECD06338;ECD09742;ECD10240;ECD10275;ECD13625;ECD15112;ECD16016;ECD18021;ECD22339;REN92352;REN92353;REN92354;REN92355;REN92356;REN92357;REN92358;REN92359;REN92360;REN92361;REN92362;REN92363;REN92364;REN92365;REN92366;REN92367;REN92368;REN92369;REN92370;REN92371;REN92372;REN92373;REN92374;REN92375;REN92376;REN92377;REN92378;REN92379;REN92380;REN92381;REN92382;REN92383;REN92384;REN93392;REN93678;stSG605947;stSG605960;stSG605963;stSG605965 CD85;CD85F;ILT-11;ILT11;LILRB7;LIR-9;LIR9 CD85 antigen-like family member F;OTTHUMP00000067953;OTTHUMP00000067954;immunoglobulin-like transcript 11 protein;leukocyte Ig-like receptor 9;leukocyte immunoglobulin-like receptor 9;leukocyte immunoglobulin-like receptor subfamily A member 5;leukocyte immunoglobulin-like receptor subfamily A member 5 soluble;leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 7 APPROVED protein-coding ENSG00000187116 HGNC:16309 06924 606047 REVIEWED 1603958 LILRP1 leukocyte immunoglobulin-like receptor pseudogene 1 19 19 19 q13.4 52247567 52249770 + 55208106 55210309 + 54696327 54698529 + 10941842;9862332 79167 ABBA01068150;AC011515;AC243962;AC245128;AF072102;CU041368;CU459007;CU467612;NG_002681 1802366;1803562;1803564;1805660;1805712;2042484;2044684;2045624;2045626;2045628;2045630;2045632;2045634;2045636;2045638;2045640;2045642;2045644;2045646;2045648;2045650;2045652;2045654;2045656;2045658;2045660;2045662;2045664;2104208 ECD02067;ECD02682;ECD02683;ECD03780;ECD03806;REN92288;REN93402;REN93887;REN93888;REN93889;REN93890;REN93891;REN93892;REN93893;REN93894;REN93895;REN93896;REN93897;REN93898;REN93899;REN93900;REN93901;REN93902;REN93903;REN93904;REN93905;REN93906;REN93907;stSG606249 CD85l;ILT9;LILRA6P pseudo HGNC:15496 INFERRED 1606816 LILRA4 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 This gene encodes an immunoglobulin-like cell surface protein preferentially expressed in plasmacytoid dendritic cells (PDCs). This gene is highly expressed in PDCs, and is found to be rapidly down-regulated by interleukin 3 (IL3). This gene is one of the 19 highly related genes that form a leukocyte receptor gene cluster (LRC) at chromosomal region 19q13.4. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 51885612 51891341 - 54844473 54850421 - 54333421 54339150 - 6480464;8554872 10941842;11491530;12384430;12477932;12529506;15094202;16735691;16777052;18006695;18048391;19564354;20331378;22674796;23401591 23547 P59901 ABBA01068167;AC008746;AC008984;AC245884;AF041261;AF283989;BC038829;BC109198;BC109199;BI834924;CH471135;CU104682;CU467018;NM_012276 AAD02203;AAI09199;AAI09200;AAL36993;EAW72230;EAW72231;EAW72232;NP_036408;P59901 Hs.406708 1667545;1802120;1803826;1805380;1807350;1807438;1808604;2042832;2042834;2042836;2042838;2042840;2042842;2042844;2042846;2042848;2042850;2042852;2042854;2042856;2042858;2042860;2042862;2042864;2042866;2042868;2042870;2042872;2042874;2042876;2042878;2042880;2042882;2042884;2042886;2042888;2042890;2042892;2042894;2042896;2042898;2045374;2103874;2103876;2103878;2103880;2103882;2217490;5096817 ECD01942;ECD02654;ECD02824;ECD03637;ECD04646;ECD04690;ECD05284;ILT7_2925;REN92462;REN92463;REN92464;REN92465;REN92466;REN92467;REN92468;REN92469;REN92470;REN92471;REN92472;REN92473;REN92474;REN92475;REN92476;REN92477;REN92478;REN92479;REN92481;REN92482;REN92483;REN92484;REN92485;REN92486;REN92487;REN92488;REN92489;REN92490;REN92491;REN92492;REN92493;REN92494;REN92495;REN92496;REN93760;RH46148;stSG605979;stSG605982;stSG605983;stSG605984;stSG605985 CD85g;ILT-7;ILT7;MGC129597;MGC129598 CD85 antigen-like family member G;OTTHUMP00000067952;immunoglobulin-like transcript 7;leukocyte immunoglobulin-like receptor subfamily A member 4;leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 4 APPROVED protein-coding ENSG00000239961 HGNC:15503 09596 607517 REVIEWED 1353018 LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 4760 9557 + 54777675 54785033 - 54273821 54281178 - 6480464;8554872 10190906;11169396;11491530;11875462;12390682;12477932;12853576;14662864;14971032;15301858;15304001;15489334;15670976;16455647;17056715;17400057;17420263;17567994;17923119;17998301;18439545;18538388;18550825;18802077;19010139;19124746;19356145;19535644;19658091;19860908;20448110;20686565;20702625;21063840;21270408;21559424;22593621;22660330;22664025;22767507;22802125;22888216;23018130;23039892;23112154;23238214;23911358;23955630;24052308;24133137;24596420;24603468;24676037;8125298;9079806;9151699;9259559;9382880;9531263;9548455;9842885 10288 A2IXV5;H7C0C3;Q8N423 ABBA01068168;AC010518;AC245052;AF000574;AF004231;AF011565;AF011566;AF025528;AF283986;AF283987;AK226015;AK297041;AK297071;AK298649;AK310263;BC025766;BC036827;CH471135;CU104682;CU151838;CU207370;CU457734;DC429031;DC429053;DQ655938;EU915606;NM_001080978;NM_001278403;NM_001278404;NM_001278405;NM_001278406;NM_005874;NR_103521;XM_006722966;XM_006722967;XM_006722968;XM_006722969;XM_006722970;XM_006726139;XM_006726140;XM_006726141;XM_006726142;XM_006726143;XM_006726170;XM_006726237;XM_006726238;XM_006726239;XM_006726240;XM_006726241;XM_006726242;XM_006726243;XM_006726244;XM_006726245;XR_430186;XR_431049;XR_431085 AAB67711;AAB87662;AAB88119;AAC51882;AAC51883;AAH36827;AAL36990;AAL36991;ACE87826;ACK56072;ACT64556;BAH12481;BAH12489;BAH12836;EAW72224;NP_001074447;NP_001265332;NP_001265333;NP_001265334;NP_001265335;NP_005865;Q8N423;XP_006723029;XP_006723030;XP_006723031;XP_006723032;XP_006723033;XP_006726202;XP_006726203;XP_006726204;XP_006726205;XP_006726206;XP_006726233;XP_006726300;XP_006726301;XP_006726302;XP_006726303;XP_006726304;XP_006726305;XP_006726306;XP_006726307;XP_006726308 Hs.655652 1669834;1798650;1799212;1799528;1799580;1816122;1820216;1821858;1822368;1822894;1834212;2041902;2041904;2042110;2042288;2042290;2042292;2042294;2042296;2042298;2042300;2042302;2042304;2042306;2042308;2042310;2042312;2042314;2042316;2042318;2042320;2042322;2042324;2042326;2042328;2042330;2042332;2042334;2042336;2042338;2042340;2042342;2042344;2042346;2042348;2042350;2042352;2042354;2044810;2044812;2045098;2045100;2045150;2045154;2045158;2103794;2103796;2103798;2103800;2103802;2103804;2104116;2104136;2104138;5105018 ECD00165;ECD00454;ECD00616;ECD00642;ECD09101;ECD11182;ECD12015;ECD12272;ECD12535;ECD18254;REN91988;REN91989;REN92094;REN92183;REN92184;REN92185;REN92186;REN92187;REN92188;REN92189;REN92190;REN92191;REN92192;REN92193;REN92194;REN92195;REN92196;REN92197;REN92198;REN92199;REN92200;REN92201;REN92202;REN92205;REN92206;REN92207;REN92208;REN92209;REN92212;REN92213;REN92214;REN92216;REN92217;REN92218;REN92219;REN92220;REN92221;REN93465;REN93466;REN93617;REN93618;REN93644;REN93646;REN93648;WI-15638;stSG605927;stSG605928;stSG605929;stSG605930;stSG605931;stSG605932;stSG605948;stSG606188;stSG606208;stSG606209 CD85D;ILT-4;ILT4;LILRA6;LIR-2;LIR2;MIR-10;MIR10 CD85 antigen-like family member D;Ig-like transcript 4;OTTHUMP00000067358;OTTHUMP00000067462;OTTHUMP00000067463;OTTHUMP00000067464;eukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6;immunoglobulin-like transcript 4;leukocyte immunoglobulin-like receptor 2;leukocyte immunoglobulin-like receptor subfamily B member 2;leukocyte immunoglobulin-like receptor subfamily B member 2 soluble isoform;monocyte/macrophage immunoglobulin-like receptor 10 APPROVED protein-coding ENSG00000131042 HGNC:6606 11994 604815 REVIEWED 1347745 LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 52214265 52220001 + 55174271 55181810 + 54662819 54670359 + 6480464;8554872 10781084;10940079;10941837;11491530;11875462;12477932;15489334;15670976;16406677;16433759;16493035;17161342;17266150;17513794;17923119;17993722;17998301;18420485;18486764;18802077;19010139;19380766;19535644;19561330;19658091;19833736;19860908;20237496;21454581;22387553;22664025;22767507;22904259;23018130;23027709;23039892;23128233;23607934;23616249;23666960;9079806;9151699;9278324;9422771;9548455;9786947;9862332;9973385 11006 A8MUE1;C9JST2;Q8NHJ6 ABBA01068150;AC011515;AC243962;AF025532;AF072099;AF189768;AF283988;AK292082;AK309227;AK314783;BC026309;BU175229;BX094825;CH471135;CR542048;CU024913;CU041368;CU459007;CU467612;EU915607;NM_001278426;NM_001278427;NM_001278428;NM_001278429;NM_001278430;U82979;U91925;XM_005277050;XM_005277282;XM_005277284;XM_006726145;XM_006726257;XM_006726292;XM_006726293 AAB68665;AAB87666;AAC51355;AAC99761;AAG02024;AAH26309;AAL36992;ABM83015;ABM86208;ACK56073;BAF84771;CAG46845;EAW72270;EAW72271;EAW72272;NP_001265355;NP_001265356;NP_001265357;NP_001265358;NP_001265359;Q8NHJ6;XP_005277107;XP_005277339;XP_005277341;XP_006726208;XP_006726320;XP_006726355;XP_006726356 Hs.67846;Hs.731841 1804562;1804604;1806064;1806238;1826432;1847937;2045350;2045352;2045354;2045356;2045358;2045360;2045362;2045364;2045366;2045368;2045370;2045372;2045374;2045376;2045378;2045380;2045382;2045384;2045386;2045388;2045390;2045392;2045394;2045396;2045398;2045400;2045402;2045404;2045406;2045408;2045410;2045412;2045414;2045416;2045418;2045420;2045422;2045424;2045426;2045428;2045430;2045432;2045434;2104172;2104174;2104176;2104178;2104180;2104182;2104184 ECD03210;ECD03234;ECD03985;ECD04074;ECD14330;REN93748;REN93749;REN93750;REN93751;REN93752;REN93753;REN93754;REN93755;REN93756;REN93757;REN93758;REN93759;REN93760;REN93761;REN93762;REN93763;REN93764;REN93765;REN93766;REN93767;REN93768;REN93769;REN93770;REN93771;REN93772;REN93773;REN93774;REN93775;REN93776;REN93777;REN93778;REN93779;REN93780;REN93781;REN93782;REN93783;REN93784;REN93785;REN93786;REN93787;REN93788;REN93789;REN93790;RH47724;stSG606227;stSG606228;stSG606229;stSG606230;stSG606231;stSG606232;stSG606234 CD85K;HM18;ILT-3;ILT3;LILRB5;LIR-5;LIR5 CD85 antigen-like family member K;OTTHUMP00000068605;OTTHUMP00000068606;OTTHUMP00000068607;OTTHUMP00000068608;OTTHUMP00000068609;immunoglobulin-like transcript 3;leukocyte immunoglobulin-like receptor 5;leukocyte immunoglobulin-like receptor subfamily B member 4;leukocyte immunoglobulin-like receptor subfamily B member 4 soluble isoform;leukocyte immunoglobulin-like receptor, subfamily B, member 4;monocyte inhibitory receptor HM18 APPROVED protein-coding ENSG00000186818 HGNC:6608 11996 604821 REVIEWED 1316283 LILRB3 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 51761822 51864872 - 54720147 54726997 - 54216278 54223087 - 6480464;6907045;8554872 10941842;12477932;12529506;15242876;16344560;17998301;18802077;19617579;19658091;19913121;20628086;20631139;24096970;8125298;9079806;9151699;9278324;9382880;9548455 11025 B5ME96;C9JWL8;F8W6G6;F8WD89;O75022;Q6PI73;U5XHD7 AC010492;AC012314;AC245052;AF000575;AF009632;AF009633;AF009634;AF009635;AF009636;AF009637;AF009638;AF009639;AF009640;AF009641;AF009642;AF009643;AF009644;AF025533;AF031553;AF031554;AF031555;AF031556;AF256195;AF344427;AF344429;AF344434;AF344435;AF344437;AF344440;AK223265;AK290917;BC028153;BC104993;BC112198;CA434108;CU104682;CU457734;DA620532;EU814627;EU814628;EU915603;EU915604;EU915605;KC918852;KC918854;KC918855;KC918857;KC918858;KC918860;KC918863;KF294235;KF294242;KF294243;KF294244;KF294249;NM_001081450;NM_006864;U91928;XM_006722983;XM_006722984;XM_006722985;XM_006726175;XM_006726176 AAB68668;AAB87667;AAB88120;AAC51887;AAC51888;AAC51889;AAC51890;AAC51891;AAC51892;AAC51893;AAC51894;AAC51895;AAC51896;AAC51897;AAC51898;AAC51899;AAC51900;AAC51901;AAC51902;AAC51903;AAI04994;AAI12199;AAP30716;AAQ14933;AAQ14935;AAQ14940;AAQ14941;AAQ14943;AAQ14946;ACJ26774;ACJ26775;ACK56069;ACK56070;ACK56071;AGY56152;AGY56159;AGY56166;AGY56167;AGY56168;AGZ61976;AGZ61978;AGZ61979;AGZ61981;AGZ61982;AGZ61984;AGZ61987;BAD96985;BAF83606;NP_001074919;NP_006855;O75022;XP_006723046;XP_006723047;XP_006723048;XP_006726238;XP_006726239 Hs.631592;Hs.688335 1799212;1801640;1801918;1802366;1803646;1804064;1806060;1806944;1810028;1811450;1812872;1816122;1820124;1820346;1820664;1821938;1822590;1823514;1823516;1824958;1826586;1827042;1829690;1832210;1834734;1838258;1845338;2041894;2041896;2041898;2041900;2041902;2041904;2041906;2041908;2041910;2041912;2041914;2041916;2041918;2041920;2041922;2041924;2041994;2041996;2041998;2042000;2042006;2042008;2042010;2042014;2042016;2042018;2042020;2042022;2042024;2042058;2042060;2042062;2042064;2042066;2042068;2042070;2042072;2042100;2042188;2042192;2042202;2042236;2042248;2042386;2042392;2042394;2042396;2042398;2042400;2042402;2042404;2042406;2042408;2042410;2042412;2042414;2042416;2042418;2042420;2042422;2042424;2042426;2042428;2042430;2042432;2042434;2042436;2042438;2042442;2042444;2042450;2042452;2042454;2042458;2042466;2042512;2042514;2042516;2042518;2042520;2042522;2042524;2042526;2042528;2042530;2042532;2042534;2042536;2042538;2042540;2042542;2042544;2042546;2042548;2042550;2042552;2042554;2042556;2042558;2042560;2042562;2042564;2042566;2042568;2042570;2042572;2042574;2042576;2042580;2042582;2042584;2042586;2042588;2042590;2042592;2042594;2042596;2042598;2042600;2042602;2042604;2042606;2042608;2042610;2044876;2045164;2045412;2045650;2103712;2103714;2103716;2103718;2103720;2103722;2103724;2103740;2103742;2103748;2103750;2103752;2103754;2103756;2103760;2103762;2103770;2103772;2103774;2103776;2103778;2103780;2103782;2103784;2103786;2103788;2103790;2103792;2103794;2103796;2103810;2103812;2103814;2103816;2103818;2103822;2103826;2103828;2103830;2103832;2103834;2103836;2103838;2103840;2103842;2103844;2103846;2103848;2104122;2219168;5015404;5015621;5037552;5096817;5096925 D11S3732;D8S2279;ECD00454;ECD01699;ECD01840;ECD02067;ECD02654;ECD02729;ECD02949;ECD03983;ECD04437;ECD05567;ECD06006;ECD06724;ECD07449;ECD09101;ECD11135;ECD11248;ECD11407;ECD12055;ECD12383;ECD12848;ECD12849;ECD13578;ECD14407;ECD14636;ECD15977;ECD17243;ECD18515;ECD20303;ECD23886;L17705;LILRB5_2728;REN91984;REN91985;REN91986;REN91987;REN91988;REN91989;REN91990;REN91991;REN91992;REN91993;REN91994;REN91995;REN91996;REN91997;REN91998;REN91999;REN92035;REN92036;REN92037;REN92038;REN92042;REN92043;REN92044;REN92046;REN92047;REN92048;REN92049;REN92050;REN92051;REN92068;REN92069;REN92070;REN92071;REN92072;REN92073;REN92074;REN92075;REN92089;REN92133;REN92135;REN92140;REN92157;REN92163;REN92237;REN92240;REN92241;REN92242;REN92243;REN92244;REN92246;REN92247;REN92248;REN92249;REN92250;REN92251;REN92252;REN92253;REN92254;REN92255;REN92256;REN92257;REN92258;REN92259;REN92260;REN92261;REN92262;REN92263;REN92264;REN92267;REN92268;REN92271;REN92272;REN92273;REN92275;REN92279;REN92302;REN92303;REN92304;REN92305;REN92306;REN92307;REN92308;REN92309;REN92310;REN92311;REN92312;REN92313;REN92314;REN92315;REN92316;REN92317;REN92318;REN92319;REN92320;REN92321;REN92322;REN92323;REN92324;REN92325;REN92326;REN92327;REN92328;REN92329;REN92330;REN92331;REN92332;REN92333;REN92334;REN92336;REN92337;REN92338;REN92339;REN92340;REN92341;REN92342;REN92343;REN92344;REN92345;REN92346;REN92347;REN92348;REN92349;REN92350;REN92351;REN93504;REN93652;REN93779;REN93900;stSG605880;stSG605881;stSG605882;stSG605884;stSG605885;stSG605886;stSG605887;stSG605895;stSG605898;stSG605901;stSG605902;stSG605903;stSG605904;stSG605906;stSG605909;stSG605910;stSG605914;stSG605915;stSG605916;stSG605917;stSG605919;stSG605920;stSG605921;stSG605922;stSG605923;stSG605924;stSG605925;stSG605926;stSG605927;stSG605928;stSG605937;stSG605938;stSG605939;stSG605940;stSG605941;stSG605945;stSG605947;stSG605949;stSG605950;stSG605951;stSG605955;stSG605956;stSG605957;stSG605958;stSG605959;stSG605960;stSG605963;stSG605965;stSG606193 CD85A;HL9;ILT-5;ILT5;LILRA6;LIR-3;LIR3;MGC138403;PIRB CD85 antigen-like family member A;OTTHUMP00000069587;OTTHUMP00000197712;OTTHUMP00000237014;immunoglobulin-like transcript 5;leukocyte immunoglobulin-like receptor 3;leukocyte immunoglobulin-like receptor subfamily B member 3;leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6;monocyte inhibitory receptor HL9 APPROVED protein-coding ENSG00000204577 HGNC:6607 11995 604820 REVIEWED 1351276 LILRB5 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 51794937 51801834 - 54754270 54761167 - 54250406 54257304 - 1580863;6480464 12477932;14702039;15489334;16335952;17998301;20237496;8125298;9548455 10990 O75023 ABBA01068168;AC010492;AC245052;AF025534;AK057072;AK090399;AK092867;AK096122;AK223296;AK290845;AK301112;AK301338;BC025704;CA433575;CH471135;CU104682;CU151838;CU457734;NM_001081442;NM_001081443;NM_006840;XM_005258436;XM_005277049;XM_005277223;XM_005278239;XM_006722978;XM_006726144;XM_006726253;XM_006726254;XM_006726255;XM_006726256;XM_006726288;XM_006726289;XM_006726290;XM_006726291 AAB87668;AAH25704;ABM85028;BAB71361;BAC03380;BAD97016;BAF83534;BAG62710;BAG62886;EAW72218;EAW72219;EAW72220;EAW72221;EAW72222;NP_001074911;NP_001074912;NP_006831;O75023;XP_005258493;XP_005277106;XP_005277280;XP_005278296;XP_006723041;XP_006726207;XP_006726316;XP_006726317;XP_006726318;XP_006726319;XP_006726351;XP_006726352;XP_006726353;XP_006726354 Hs.655338 1757303;1805854;1807434;1808174;1808514;1809630;1815412;1821520;1824408;1840532;1845148;2041904;2041908;2042104;2042106;2042108;2042110;2042112;2042114;2042116;2042118;2042120;2042122;2042124;2042126;2042128;2042130;2042132;2042134;2042136;2042138;2042140;2042142;2042144;2042146;2042148;2042150;2042152;2042154;2042156;2042158;2042160;2042162;2042164;2042166;2042168;2042170;2042172;2042174;2042302;2103764;2103766;2103768;2103770;2103772;2103774;2103776;2119064;2174682;2219168;5038166;5096925 A003P13;ECD03879;ECD04688;ECD05068;ECD05239;ECD05567;ECD05807;ECD08742;ECD11846;ECD13302;ECD21453;ECD23791;LILRB5_2728;REN91989;REN91991;REN92091;REN92092;REN92093;REN92094;REN92095;REN92096;REN92097;REN92098;REN92099;REN92100;REN92101;REN92102;REN92103;REN92104;REN92105;REN92106;REN92107;REN92108;REN92109;REN92110;REN92111;REN92112;REN92113;REN92114;REN92115;REN92116;REN92117;REN92118;REN92119;REN92120;REN92121;REN92122;REN92123;REN92124;REN92125;REN92126;REN92190;REN93649;RH46519;SHGC-144707;stSG605911;stSG605912;stSG605913;stSG605914;stSG605915;stSG605916;stSG605917 CD85C;LIR-8;LIR8 CD85 antigen-like family member C;OTTHUMP00000069600;OTTHUMP00000069609;leukocyte immunoglobulin-like receptor 8;leukocyte immunoglobulin-like receptor subfamily B member 5 APPROVED protein-coding ENSG00000105609 HGNC:6609 11993 604814 REVIEWED 1601849 LILRP2 leukocyte immunoglobulin-like receptor pseudogene 2 INTERACTS WITH hydroquinone O-beta-D-glucopyranoside 19 19 19 q13.4 52260314 52265600 + 55219700 55224955 + 54707916 54713452 + 6480464 10941842;12477932;9862332 79166 ABBA01068150;AC006293;AC243962;AC245128;AF072100;AF072101;BC131616;BG744172;CU041368;CU459007;CU467612;GU182338;GU182339;GU182341;GU182345;GU182349;GU182352;GU182353;GU182358;KF459842;NR_003061 AAC99762;AAD03158 Hs.202680 1798556;1798574;1799312;1805052;1805466;2045656;2045726;2045728;2045730;2045732;2045734;2045736;2045738;2045740;2045742;2045744;2045746;2045748;2045750;2045752;2045754;2045756;2045758;2045760;2045762;2045764;2045766;2045768;2045770;2045772;2045774;2104222;2104224;2104226;5096817 ECD00117;ECD00126;ECD00504;ECD02654;ECD03467;ECD03681;REN93903;REN93938;REN93939;REN93940;REN93941;REN93942;REN93943;REN93944;REN93945;REN93946;REN93947;REN93948;REN93949;REN93950;REN93951;REN93952;REN93953;REN93955;REN93956;REN93957;REN93958;REN93959;REN93960;REN93961;REN93962;REN93963;stSG606258;stSG606260;stSG606261 CD85m;ILT10;LILRA5 pseudo ENSG00000170858 HGNC:15497 13736 VALIDATED 1342579 LIM2 lens intrinsic membrane protein 2, 19kDa This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 19 19 19 q13.4 48934200 48942254 - 51883163 51891210 - 51379909 51387956 - 1600309;1580863;6480464;7240710 11532191;11917274;12107412;12107413;12477932;15968979;1606837;18596884;21386927;22103961;2584203;8137630;8197479;8666393;8889548 3982 P55344 ABBA01068274;AC008750;AF305941;AF340019;AF340020;AMYH02036379;BC069430;BC074916;BC074917;BC126139;BU734982;CD675859;CH471135;L04193;NG_012924;NM_001161748;NM_030657 AAG32328;AAH69430;AAH74916;AAH74917;AAI26140;AAK26327;AAK26328;ADR83503;EAW72010;EAW72011;NP_001155220;NP_085915;P55344 Hs.162754 1743803 GDB:373986 CTRCT19;MP17;MP18;MP19;MP20 lens fiber membrane intrinsic protein APPROVED protein-coding ENSG00000105370 HGNC:6610 01097 154045;615277 REVIEWED 6766381 LIMD1-AS1 LIMD1 antisense RNA 1 3 3 3 p21.31 45657582 45668320 - 45719657 45730374 - 45678165 45688882 - 22041458 644714 ABBA01024722;ABBA01024723;AC098476;AK026206;AMYH02006666;AMYH02006667;BC047037;HG495641;NR_033947 Hs.712889 1647494;2152513 RH46120;SHGC-76912 RP11-697K23.1 APPROVED ncrna HGNC:44107 VALIDATED 1603297 LIMD2 LIM domain containing 2 ENCODES a protein that exhibits zinc ion binding (inferred); INTERACTS WITH aflatoxin B1; arsenous acid; copper(2+) sulfate 17 17 17 q23.3 56161369 56165639 - 61773249 61778527 - 63695889 63701167 - 6480464 12477932;14702039;15203218;15489334;16712791;16751776;22505724;24816145 80774 J3KRR0;J3QL69;J3QQM5;Q9BT23 AA251318;ABBA01035325;ABBA01035326;AC046185;AK092301;AK307353;AK310718;AMYH02033776;AY037154;BC004400;BC025738;BC051812;CB148563;CD632650;CH471109;DQ592947;NM_030576;XM_005257703;XM_005257704;XM_005257705;XM_006722124;XM_006722125 AAH04400;AAH51812;AAK67634;BAC03855;EAW94291;EAW94292;EAW94293;EAW94294;EAW94295;EAW94296;NP_085053;Q9BT23;XP_005257760;XP_005257761;XP_005257762;XP_006722187;XP_006722188 Hs.591166 1770483 WI-11047 MGC10986 LIM domain-containing protein 2 protein-coding ENSG00000136490 HGNC:28142 14407 VALIDATED 1349645 LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 52169103 52189488 + 55128384 55149007 + 54616930 54637556 + 6480464;8554872 10591185;10941837;11114384;11169396;11491530;11751964;11907092;12130517;12390682;12477932;12847262;12853576;12874224;12897781;14662864;14702039;15100307;15304001;15474475;15489334;15585844;15670976;15905516;16014635;16210603;16305801;16344560;16455647;17056715;17400057;17567994;17601702;17869268;17998301;18094328;18398485;18538388;18550825;18632577;18684926;18802077;18821690;18946352;19124746;19136885;19304799;19658091;19841038;19913121;20139023;20194892;20580616;20600445;20628086;20631139;21092455;21213105;21233315;21242521;21270408;21551166;21559424;21817101;22028331;22242197;22296096;22574131;22623953;22844324;22965785;23103378;23208495;23228398;23348966;23404538;23415844;23476104;23514593;23552990;23666960;23685425;23756160;23955630;23997222;24038602;24156302;24453251;24550301;8125298;8258145;9079806;9259559;9285411;9382880;9548455;9842885;9933109 10859 A8MVE2;C9JPH8;D9IDM5;F6TER3;Q8NHL6 ABBA01068150;AC009892;AC245036;AF009005;AF009006;AF009007;AF009220;AF009221;AF189277;AF283984;AF283985;AK094834;AK223310;AK292028;AK292156;BC015731;CH471135;CS540228;CU024913;CU104682;CU234142;CU467612;DA263280;DA953794;DA991480;EU915608;HM135394;HM135401;NM_001081637;NM_001081638;NM_001081639;NM_001278398;NM_001278399;NM_006669;NR_103518;U82279;XM_005277047;XM_006726246;XM_006726247;XM_006726248;XM_006726249;XM_006726250;XM_006726251;XM_006726252;XM_006726281;XM_006726282;XM_006726283;XM_006726284;XM_006726285;XM_006726286;XM_006726287;XR_254255;XR_431086;XR_431087;XR_431094;XR_431095;XR_431096 AAB63521;AAB63522;AAC51179;AAC51879;AAC51880;AAC51881;AAG08984;AAH15731;AAL36988;AAL36989;ABM83156;ABM86357;ACK56074;ADJ55944;ADJ55951;BAD97030;BAF84717;BAF84845;CAM90892;EAW72266;EAW72267;EAW72268;EAW72269;NP_001075106;NP_001075107;NP_001075108;NP_001265327;NP_001265328;NP_006660;Q8NHL6;XP_005277104;XP_006726309;XP_006726310;XP_006726311;XP_006726312;XP_006726313;XP_006726314;XP_006726315;XP_006726344;XP_006726345;XP_006726346;XP_006726347;XP_006726348;XP_006726349;XP_006726350 Hs.667388 1799856;1800796;1807436;1817990;1820216;1821858;1822894;1830660;1835262;1837652;1841614;2042306;2042310;2042312;2042338;2042346;2042348;2042350;2042380;2042382;2042384;2042388;2042390;2044790;2044792;2044982;2044984;2044986;2044988;2044990;2044992;2044994;2044996;2044998;2045000;2045002;2045004;2045006;2045008;2045010;2045012;2045014;2045016;2045018;2045020;2045022;2045024;2045026;2045028;2045030;2045032;2045034;2045036;2045038;2045040;2045042;2045044;2045046;2045048;2045050;2045052;2045054;2045056;2045058;2045060;2045062;2045064;2045066;2045068;2045070;2045072;2045074;2045076;2045078;2045080;2045082;2045084;2045086;2045088;2045090;2045092;2045094;2045096;2045098;2045100;2045102;2045104;2045106;2045108;2045110;2045112;2045114;2045116;2045118;2045120;2045122;2045124;2045126;2045128;2045130;2045132;2045134;2045136;2045138;2045140;2045142;2045144;2045146;2045148;2045150;2045152;2045154;2045156;2045158;2045160;2045162;2045164;2045166;2045168;2045170;2103796;2103804;2103810;2103828;2104130;2104132;2104134;2104136;2104138;2104140;2152694;5022347;5038166;5105018 ECD00082;ECD00782;ECD01260;ECD04689;ECD10050;ECD11182;ECD12015;ECD12535;ECD16466;ECD18786;ECD19993;ECD22004;REN92192;REN92194;REN92195;REN92212;REN92217;REN92218;REN92219;REN92234;REN92235;REN92236;REN92238;REN92239;REN93455;REN93456;REN93557;REN93558;REN93559;REN93560;REN93561;REN93562;REN93563;REN93564;REN93565;REN93566;REN93567;REN93568;REN93569;REN93570;REN93571;REN93572;REN93573;REN93574;REN93575;REN93576;REN93577;REN93578;REN93579;REN93580;REN93581;REN93582;REN93583;REN93584;REN93585;REN93586;REN93587;REN93588;REN93589;REN93590;REN93591;REN93592;REN93593;REN93594;REN93595;REN93596;REN93597;REN93598;REN93599;REN93600;REN93602;REN93603;REN93604;REN93605;REN93606;REN93607;REN93608;REN93609;REN93610;REN93611;REN93613;REN93614;REN93615;REN93616;REN93617;REN93618;REN93619;REN93620;REN93621;REN93622;REN93623;REN93624;REN93625;REN93626;REN93627;REN93628;REN93629;REN93630;REN93631;REN93632;REN93634;REN93635;REN93636;REN93637;REN93638;REN93639;REN93640;REN93641;REN93642;REN93643;REN93644;REN93645;REN93646;REN93647;REN93648;REN93649;REN93650;REN93651;REN93652;REN93653;REN93654;REN93655;RH70709;stSG605928;stSG605932;stSG605937;stSG605948;stSG605949;stSG606204;stSG606205;stSG606206;stSG606208;stSG606209;stSG606211 CD85;CD85J;FLJ37515;ILT-2;ILT2;LIR-1;LIR1;MIR-7;MIR7 CD85 antigen;CD85 antigen-like family member J;Ig-like transcript 2;OTTHUMP00000068384;OTTHUMP00000068385;OTTHUMP00000068386;OTTHUMP00000068387;OTTHUMP00000068408;OTTHUMP00000068409;OTTHUMP00000200114;immunoglobulin-like transcript 2;leukocyte Ig-like receptor-1;leukocyte immunoglobulin-like receptor 1;leukocyte immunoglobulin-like receptor subfamily B member 1;leukocyte immunoglobulin-like receptor subfamily B member 1 soluble isoform;monocyte/macrophage immunoglobulin-like receptor 7 APPROVED protein-coding ENSG00000104972 HGNC:6605 07273 604811 REVIEWED 1603039 LIME1 Lck interacting transmembrane adaptor 1 LIME1 is a raft-associated transmembrane adaptor phosphoprotein that is preferentially expressed in hemopoietic cells, particularly T cells (Brdickova et al., 2003 [PubMed 14610046]; Hur et al., 2003 [PubMed 14610044]).[supplied by OMIM, Mar 2008] 20 20 20 q13.3 59052243 59054730 + 62367480 62370460 + 63736626 63739107 + 6480464 11780052;12477932;14610044;14610046;14702039;15342556;15489334;15498874;16160011;16249387;22395814;23128233;23535732 54923 Q9H400;V9GYI1;X6RKG5 ABBA01021418;AI763397;AK000413;AK054722;AL121845;AMYH02037468;AY203957;BC017016;BP368475;CH471077;KF510480;NM_017806 AAH17016;AAP34480;BAA91148;EAW75213;EAW75214;EAW75215;EAW75216;EAW75217;EAW75218;EAW75219;NP_060276;Q9H400 Hs.233220 1675744;1697038 RH101996;RH75350 FLJ20406;LIME;LP8067;RP4-583P15.5;dJ583P15.4 OTTHUMP00000031598;OTTHUMP00000031599;lck-interacting membrane protein;lck-interacting molecule;lck-interacting transmembrane adapter 1 APPROVED protein-coding ENSG00000203896 HGNC:26016 07904 609809 VALIDATED 1604823 LIMCH1 LIM and calponin homology domains 1 ENCODES a protein that exhibits actin binding (inferred); zinc ion binding (inferred); INVOLVED IN actomyosin structure organization (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3-isobutyl-1-methyl-7H-xanthine 4 4 4 p13 41806095 42146075 + 41362802 41702061 + 41359607 41700044 + 6480464;8554872 10470851;11076863;11230166;11256614;12477932;15302935;15489336;16344560;16381901;19322201;19531213;20379614;21832049;22863883;22939629;23793025;24332808;9847074 22998 B7Z2J4;D6R8Y0;D6RD46;D6RGH8;D6RJ93;E7EPK0;E9PDJ9;G5EA03;H0Y8P3;Q6NVB9;Q9UPQ0 AB029025;ABBA01014262;ABBA01014263;ABBA01014264;ABBA01014265;ABBA01014266;ABBA01014267;ABBA01014268;ABBA01014269;ABBA01014270;ABBA01014271;ABBA01014272;ABBA01014273;AC095043;AC105389;AC108050;AC121159;AC124009;AK026815;AK027231;AK294774;AK295784;AK295836;AK298915;AK299297;AK299835;AK302674;AK309846;AL117572;AL831962;AMYH02009097;AMYH02009098;AMYH02009099;AMYH02009100;BC023546;BC029735;BC053639;BC068200;BC095394;BX537916;BX640692;CH471069;CR749205;CR933645;CR936601;CR936610;CR936658;CR936661;CR936664;DA786971;NM_001112717;NM_001112718;NM_001112719;NM_001112720;NM_001289122;NM_001289124;NM_014988;XM_005248057;XM_005248058;XM_005248059;XM_005248060;XM_005248061;XM_005248062;XM_005248063;XM_005248064;XM_005248065;XM_005248066;XM_005248067;XM_005248068;XM_005248069;XM_005248070;XM_005248071;XM_005248072;XM_005248073;XM_005248074;XM_005248075;XM_006713996;XM_006713997;XM_006713998 AAH23546;AAH29735;AAH68200;AAH95394;BAA83054;BAH11880;BAH12187;BAH12196;BAH12902;BAH12994;BAH13142;BAH13776;CAD38604;CAD97899;CAE45816;CAH18063;CAI45946;CAI56749;CAI56754;CAL37479;CAL37959;EAW92984;EAW92985;EAW92986;EAW92987;EAW92988;NP_001106188;NP_001106189;NP_001106190;NP_001106191;NP_001276051;NP_001276053;NP_055803;Q9UPQ0;XP_005248114;XP_005248115;XP_005248116;XP_005248117;XP_005248118;XP_005248119;XP_005248120;XP_005248121;XP_005248122;XP_005248123;XP_005248124;XP_005248125;XP_005248126;XP_005248127;XP_005248128;XP_005248129;XP_005248130;XP_005248131;XP_005248132;XP_006714059;XP_006714060;XP_006714061 Hs.335163 1335119;1338468;1655184;1658224;1662024;1663136;1671753;1696126;1709678;1723689;1755299;1757269;1773596;1788956;1848013;1851364;2117860;2151351;2151367;2163976;2169289;2177788;2178778;5491533 A006X09;D4S2784;D4S2832;D4S2896;D4S2974;D4S3045;D4S496;G65553;MARC_17197-17198:1021387672:3;RH123087;RH35969;RH64846;SHGC-142189;SHGC-144685;SHGC-31042;SHGC-33782;SHGC-50345;SHGC-59485;SHGC-67780;SHGC-68207;SHGC-78966;SHGC-86324;WI-11797;WI-20741 DKFZp434I0312;DKFZp686A01247;DKFZp686B2470;DKFZp686G18243;DKFZp686G2094;DKFZp781C1754;DKFZp781I1455;LIMCH1A;LMO7B;MGC72127 LIM and calponin homology domains-containing protein 1;OTTHUMP00000218521;OTTHUMP00000218522;OTTHUMP00000218523;OTTHUMP00000218525;OTTHUMP00000218526;OTTHUMP00000218527;OTTHUMP00000218529;OTTHUMP00000218530;OTTHUMP00000218531;OTTHUMP00000218616;OTTHUMP00000218618;OTTHUMP00000218619;OTTHUMP00000218620 protein-coding ENSG00000064042 HGNC:29191 11125 VALIDATED 1320381 LIMD1 LIM domains containing 1 ENCODES a protein that exhibits transcription corepressor activity (ortholog); INVOLVED IN cell migration; cytoplasmic mRNA processing body assembly; cytoskeleton organization; FOUND IN adherens junction; cytoplasm; cytoplasmic mRNA processing body; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; levonorgestrel 3 3 3 p21.3 45574319 45660680 + 45636323 45722755 + 45594831 45681263 + 1580863;6480464 10647888;11158571;11352561;12477932;14702039;15144186;15231748;15489334;15542589;15870274;17889706;18439753;18654987;18712738;19060205;20133701;20226061;21402070;21832049;22118674;22190034;22286099;22863883;22939629;24255178;24654937 8994 C9JRJ5;Q9UGP4 ABBA01024723;ABBA01024724;AC098476;AC099539;AJ132408;AJ297357;AJ312686;AK021508;AMYH02006666;BC027712;BC117236;BC117238;BU428864;CH471055;KC876872;KC876874;KF457631;M80651;NM_014240;XM_005265529;XM_005265530;XM_006713381 AAI17237;AAI17239;ADR83109;CAB63652;CAB95944;CAC35917;EAW64742;NP_055055;Q9UGP4;XP_005265586;XP_005265587;XP_006713444 Hs.193370;Hs.621057 1647494;1693696;1701302;1713721;1713791;1739559;2152513;2184275;5015961;5016781;5022651;5037552;7185900 D11S2921;D15S1477;D3S3457;D8S2279;G15894;RH104280;RH120743;RH120782;RH46120;SHGC-58616;SHGC-67307;SHGC-76912 LIM domain-containing protein 1;OTTHUMP00000164657;OTTHUMP00000210317 protein-coding HGNC:6612 05177 604543 VALIDATED 1350726 LIMM lethal infantile mitochonrial myopathy 3986 HGNC:6615 1602328 LIMA1 LIM domain and actin binding 1 This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011] 12 12 12 q13 49365319 49473110 - 50569563 50677353 - 50175780 50283570 - 6480464;6484113 10618726;10806352;10931946;11230166;11256614;12477932;12566430;14702039;15161933;15302935;15324660;15342556;15489334;15498874;15592455;16083285;16344560;16565220;17081983;17620599;17979178;18029348;18093941;18796137;19221476;20309963;20848180;20876399;21139048;21625216;21832049;21890473;21906983;21963094;22194609;22337587;22493360;22939629;22990118;23000965;23182705;23188829;23314748;23398456;24135282;24255178;24332808;24457600;24816145;8125298 51474 F8VQE1;F8VRN8;F8VS07;F8VTU2;F8VVQ7;Q9UHB6 AA772616;AB209512;ABBA01031560;ABBA01031561;ABBA01031562;ABBA01031563;AC008147;AC139016;AF157325;AF198454;AF198455;AF218025;AK000057;AK000335;AK000372;AK023649;AK096172;AK222971;AK297766;AK314447;AL136911;AMYH02026454;AMYH02026455;AMYH02026456;AMYH02026457;BC001247;BC010664;BC110815;BC136763;BC144402;BC144403;BP216703;BP281423;CH471111;DA738195;NG_029859;NM_001113546;NM_001113547;NM_001243775;NM_016357 AAF23755;AAF23756;AAF67491;AAG17267;AAH01247;AAH10664;AAI10816;AAI36764;BAA90914;BAA91092;BAA91120;BAB14625;BAD92749;BAD96691;BAG37056;BAG53224;BAG60114;CAB66845;EAW58134;EAW58135;EAW58136;NP_001107018;NP_001107019;NP_001230704;NP_057441;Q9UHB6 Hs.525419 1336596;1715709;1736200;1767831;1776492;1852482;2107059;2157185;5017170;5037552;5094894 D12S1145E;D12S1620;D12S1908;D8S2279;EPLIN__7599;L29953;LIMA1;RH119301;RH47470;RH48418;UniSTS:51627 FLJ38853;MGC131726;SREBP3 1110021C24Rik;EPLIN;LIM domain and actin-binding protein 1;OTTHUMP00000242284;OTTHUMP00000242285;OTTHUMP00000242286;OTTHUMP00000242380;OTTHUMP00000242381;OTTHUMP00000242382;epithelial protein lost in neoplasm beta;sterol regulatory element binding protein 3 APPROVED protein-coding ENSG00000050405 HGNC:24636 09755 608364 REVIEWED 732406 LIMK1 LIM domain kinase 1 There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011] 7 7 7 q11.23 68977591 69016280 + 73498107 73536855 + 74083777 74122525 + 6480464;8554872 10196227;10428028;10431247;10436159;10559936;10652353;11003705;11340065;11413130;11418599;11925442;12323073;12361576;12684437;12777619;12821664;12853948;12963706;14530263;14702039;15023529;15189451;15220930;15660133;15897190;16192283;16204183;16278681;16381000;16455074;16456544;16611674;16763828;16837009;17192257;17287949;17294230;17500066;17512523;17572668;17979178;18000399;18028908;18029348;18079118;18096821;18424072;18566305;18978953;19056482;19322201;19662944;19734939;19778628;20041213;20047470;20061392;20100465;20347121;20622363;20634891;20694560;20873970;21219645;21228795;21321123;21682918;21832049;21868383;21923909;22214762;22632162;22715593;22883572;22906279;22939624;23086941;23167938;23239465;23294842;23338717;23602568;23620575;23700283;23702034;24039253;24063279;24696479;8183554;8537403;8673124;8689688;8812460;8824278;8980133;9655398;9685409 3984 E9PC47;P53667 AB209557;ABBA01063919;ABBA01063920;ABBA01063921;ABBA01063922;AC005056;AC005057;AF134379;AK026544;AK125156;AK290162;AK300382;AMYH02016034;AMYH02016035;AW016257;CH471200;D26309;DC296332;NG_008129;NM_001204426;NM_002314;U62293;U63721 AAB17545;AAB17546;AAC13885;AAC13886;AAD25742;AAI48341;AAI52983;AAS07436;AAS07437;AAS07438;BAA05371;BAD92794;BAF82851;BAH13274;EAW69620;EAW69621;EAW69622;EAW69623;NP_001191355;NP_002305;P53667 Hs.647035 1647464;1671191;1674274;1789354;1848188;1853265;2106539;2113476;2189271;5014019;5014051;5015619;5015861;5015961;5016478;5016596;5022200;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D15S1477;D5S2354;D7S3015;D8S2278;D8S2279;G67867;GDB:1317606;GDB:1317608;GDB:1317724;GDB:434012;GDB:631802;L18426;LIMK;LIMK1__6396;UniSTS:230793;WI-15627 LIMK;LIMK-1 LIM motif-containing protein kinase;OTTHUMP00000160532;OTTHUMP00000211913;lim motif-containing protein kinase 1 APPROVED protein-coding ENSG00000106683 HGNC:6613 03210 601329 REVIEWED 1350402 LIMS3 LIM and senescent cell antigen-like domains 3 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amiodarone; copper(2+) sulfate 2 2 2 q13 1956 2356 + 110656009 110683202 + 109898432 109925625 + 1580863;6480464 12477932;14702039;15342556;15489334;15815621;16341674;17435276 96626 P0CW19;P0CW20 ABBA01006019;ABBA01143746;AC013271;AC112229;AF288404;AI887629;AK096170;AK298340;AK300833;AK312178;AK316210;AMYH02004532;AMYH02004533;AMYH02004534;AMYH02004535;AMYH02004536;AMYH02004537;BC054477;BC093812;BC112233;BC171890;BM830478;BP320581;BQ013290;BX108353;CF994716;NM_033514;NR_027467 AAF99328;AAH93812;AAI12234;AAY14903;BAG35111;BAG60588;BAG62484;BAH14581;NP_277049;P0CW19 Hs.535619;Hs.735995 1680595;5016294 RH70783;RH98188 FLJ38851;FLJ59126;FLJ79109;MGC138438;PINCH-3 LIM and senescent cell antigen-like-containing domain protein 3;OTTHUMP00000161843;particularly interesting new Cys-His protein 3;pinch 2 protein-coding ENSG00000256977 HGNC:30047 17277 VALIDATED 5131296 LIMS3L LIM and senescent cell antigen-like domains 3-like ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog); 4-vinylcyclohexene dioxide (ortholog) 2 2 q13 111194191 111230652 - 110436614 110473075 - 6480464 12477932;15489334;15815621 100288695 P0CW19;P0CW20 AA609556;AC108938;AC112229;AC244199;AF288404;AK096170;AK298340;AK300833;AK312178;AK316210;BC054477;BC093812;BC112233;BC171890;NM_001205288;NR_038099;XM_005263563;XM_006712167;XR_244813 AAF99328;AAH93812;AAI12234;AAY24131;BAG35111;BAG60588;BAG62484;BAH14581;NP_001192217;P0CW20;XP_005263620;XP_006712230 Hs.535619;Hs.735995 1688148 RH99316 FLJ59124;MGC120847 LIM and senescent cell antigen-like-containing domain protein 3;LIM and senescent cell antigen-like-containing domain protein 3-like;OTTHUMP00000207222;OTTHUMP00000207223;particularly interesting new Cys-His protein 3 protein-coding HGNC:39941 VALIDATED 733238 LIMK2 LIM domain kinase 2 There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12.2 15408353 15476551 + 31608225 31676066 + 31212264 31280080 + 1580863;1300048;6480464;8554872 10436159;10452946;10591208;10613909;11018042;11076863;11171090;11230166;11340065;11418599;12477932;14702039;15231748;15461802;15489336;15647284;15660133;15923181;16381901;16455074;16505165;16820362;17294230;17572668;18000399;18029348;18852895;18854154;19369647;20041213;20047470;20190821;20379614;21079653;21150874;21321123;22053931;22328514;22492986;22623531;22883572;22939624;23022380;23082153;23239465;23585469;23776197;23991158;8537403;8954941;8980133;9655398 3985 B5MC51;C9JK61;P53671 AB016655;AB016656;AB451269;AB451396;ABBA01055325;ABBA01055326;ABBA01055327;AC002073;AK093554;AK291640;AK293774;AK299112;AK302553;AK314391;AL117466;AMYH02038233;AMYH02038234;BC013051;BU553494;BX385507;CH471095;CR456513;D45906;D85527;KF457401;NG_029895;NM_001031801;NM_005569;NM_016733 AAB54055;AAB54056;AAH13051;BAA08312;BAA12827;BAA36742;BAF84329;BAG37016;BAG52739;BAG57190;BAG61168;BAG63822;BAG70083;BAG70210;CAB55941;CAG30399;CAK54543;CAK54842;CAL37968;EAW59954;EAW59955;EAW59956;EAW59957;EAW59958;EAW59959;NP_001026971;NP_005560;NP_057952;P53671 Hs.474596 1677174;1691346;1856791;2137910;2148018;2219902 A002I09;D22S666;LIMK2__6397;RH26629;RH27387;WI-22681 LIMK-2 OTTHUMP00000199482;OTTHUMP00000199483;OTTHUMP00000199484;OTTHUMP00000199485;lim motif-containing protein kinase 2 APPROVED protein-coding ENSG00000182541 HGNC:6614 03585 601988 REVIEWED 3184182 LIN28AP2 LIN28A pseudogene 2 13 13 13 q31.2 68872898 68874116 - 88031721 88032939 - 87379466 87380684 - 100287388 ABBA01027278;AL360267;AMYH02028421;NG_022998 APPROVED pseudo HGNC:38056 INFERRED 1313937 LIMS1 LIM and senescent cell antigen-like domains 1 The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 2 2 2 q12.3 103464751 103615238 + 109150811 109303702 + 108534355 108687246 + 1580863;2300344;6480464;8554872 16493410 10022929;10409428;10508479;10574708;11078733;11331308;12167643;12432066;12477932;12528177;12665801;12794636;14551191;14676191;14702039;15489334;15565145;15761153;15815621;15878342;15941716;16189514;16273248;17353931;17656471;18063582;18187956;18339839;18436335;18459134;18957717;19060904;19074270;19117955;19952891;20590912;20689998;20714146;20926685;20927395;21139048;21390327;21426571;21987572;22199270;22310984;22939629;22976000;23000965;23088713;23455922;23554879;23970013;24654937;24816145;24895689;7517666;9843575 3987 C9JF46;F8WB59;F8WC86;F8WE10;P48059 ABBA01000759;ABBA01000760;AC010095;AC012487;AF527759;AF527760;AF527761;AF527762;AF527763;AK025661;AK098109;AK296992;AK302411;AK304260;AK310547;AK314217;AL110164;AMYH02004508;AMYH02004509;BC005341;BC015843;BC022365;BG942518;CH471182;DC401794;HI179074;NM_001193482;NM_001193483;NM_001193484;NM_001193485;NM_001193488;NM_004987;U09284;XM_005263946;XM_005263947;XM_005263948;XM_005263949;XM_005263950;XM_005263951;XM_006712524 AAA20086;AAH05341;AAY14983;ABZ92388;BAG36891;BAH12469;BAH13699;BAH14143;CBX53845;EAW53877;EAW53878;EAW53879;EAW53880;NP_001180411;NP_001180412;NP_001180413;NP_001180414;NP_001180417;NP_004978;P48059;XP_005264003;XP_005264004;XP_005264005;XP_005264006;XP_005264007;XP_005264008;XP_006712587 Hs.597715;Hs.613268 1675291;1688148;1703652;1719327;1770589;1773300;1857941;2108203;2146844;2183123;5015619;5016294;5016478;5021872;5022383;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D2S2009;D2S2056;D8S2279;ECD04345;GDB:434012;LIMS1_8437;RH123389;RH66261;RH68512;RH70783;RH99316;SHGC-78787;WI-19400;WI-9344;sY3084 PINCH;PINCH-1;PINCH1 LIM and senescent cell antigen-like-containing domain protein 1;OTTHUMP00000161608;OTTHUMP00000203425;OTTHUMP00000203426;OTTHUMP00000203429;OTTHUMP00000203448;particularly interesting new Cys-His protein 1;renal carcinoma antigen NY-REN-48 APPROVED protein-coding ENSG00000169756 HGNC:6616 03978 602567 REVIEWED 3378723 LIN28AP3 LIN28A pseudogene 3 20 20 20 p12.2 11659218 11659818 - 11589098 11589698 - 11608450 11609050 - 441940 ABBA01053944;AL109837;AMYH02036704;NG_021975 1671845;2145574 Z94399;Z94674 APPROVED pseudo HGNC:38057 INFERRED 1316876 LIN28A lin-28 homolog A (C. elegans) ENCODES a protein that exhibits RNA binding; INVOLVED IN miRNA catabolic process; pre-miRNA processing; RNA 3'-end processing; FOUND IN cytoplasm; cytoplasmic mRNA processing body; cytoplasmic stress granule; INTERACTS WITH all-trans-retinoic acid; cadmium dichloride; methylmercury chloride 1 1 1 p36.11 25134507 25153439 + 26737269 26756219 + 26410778 26429728 + 1580863;6480464 12477932;12798299;14688391;14702039;15003116;15489334;15614775;15722555;16227573;16710414;17617744;18550544;18604195;18951094;19038789;19153603;19483683;19578360;19703396;19878981;19966271;20101213;20881960;20947512;21045151;21057460;21417895;21425412;21553022;21631526;21815640;21912531;21979467;22034885;22081076;22118463;22157959;22162396;22210895;22240064;22263265;22296229;22388813;22429493;22433967;22467868;22532168;22545159;22689537;22713243;22808086;22898984;22935707;22959275;23079661;23161096;23255092;23292830;23307247;23318446;23481595;23500413;23613467;23660113;23728999;23774216;23790802;23840685;23846349;23884650;24006280;24311633;24778252;24860167 79727 Q9H9Z2 ABBA01034908;ABBA01034909;ABBA01034910;AF521099;AK022519;AL513365;AMYH02000568;AX879257;BC028566;CH471059;NM_024674;XM_006710899;XM_006710900 AAH28566;AAM77751;ABM84324;ABM87718;BAB14075;CAE90433;EAX07814;EAX07815;NP_078950;Q9H9Z2;XP_006710962;XP_006710963 Hs.86154 1650999;1685421;2145574;5014023;5015619;5015861;5037552;7185938 D10S16;D11S1085;D11S3114;D13S1553;D8S2279;RH66756;Z94399 CSDD1;FLJ12457;LIN-28;LIN28;ZCCHC1;lin-28A OTTHUMP00000003663;RNA-binding protein LIN-28;protein lin-28 homolog A;zinc finger CCHC domain-containing protein 1;zinc finger, CCHC domain containing 1 APPROVED protein-coding ENSG00000131914 HGNC:15986 17278 611043 VALIDATED 1604919 LIN28B lin-28 homolog B (C. elegans) The protein encoded by this gene belongs to the lin-28 family, which is characterized by the presence of a cold-shock domain and a pair of CCHC zinc finger domains. This gene is highly expressed in testis, fetal liver, placenta, and in primary human tumors and cancer cell lines. It is negatively regulated by microRNAs that target sites in the 3' UTR, and overexpression of this gene in primary tumors is linked to the repression of let-7 family of microRNAs and derepression of let-7 targets, which facilitates cellular transformation. [provided by RefSeq, Jun 2012] 6 6 6 q21 106027398 106153711 + 105384874 105531207 + 104950467 105083332 + 6480464 12477932;14702039;16971064;18029348;18391950;18391951;19211792;19266077;19448620;19448621;19448622;19448623;19483683;19495417;19615732;19703396;19745602;20303062;20350940;20398887;20525879;20546612;20827722;20846217;20881960;20962026;21102462;21145461;21512136;21533284;21625210;22118463;22263265;22433967;22822098;22941191;22964795;22976955;23042116;23052130;23063642;23152804;23318446;23378032;23449627;23482325;23494474;23563607;23639551;23667675;23740805;23798711;24244607;24386298;24602972;24732380;24778252;24780874 389421 Q6ZN17 ABBA01014401;ABBA01014402;ABBA01014403;AK131411;AL135911;AMYH02014221;AMYH02014222;AMYH02014223;AMYH02014224;AW674597;BC127712;BC127713;BC137526;BC137527;BC141959;BC141960;BC150537;BC150538;CH471051;DQ127228;JB830145;NG_032815;NM_001004317;XM_006715477;Z95329 AAI27713;AAI27714;AAI37527;AAI37528;AAI41961;AAI50538;AAI50539;AAZ38897;BAD18558;CDI44686;EAW48433;EAW48434;NP_001004317;Q6ZN17;XP_006715540 Hs.23616 1694256;1706758;1716785;2137409;2150278 AL008739;D6S2097;RH121687;SHGC-58271;SHGC-80846 CSDD2;FLJ16517 Lin-28.2;OTTHUMP00000016909;lin-28B;protein lin-28 homolog B APPROVED protein-coding ENSG00000187772 HGNC:32207 13366 611044 REVIEWED 2805176 LIN28AP1 LIN28A pseudogene 1 2 2 2 q32.1 177721440 177722061 + 184125370 184125991 + 183260642 183261263 + 129402 ABBA01062313;AC021851;AMYH02005375;NG_021592 APPROVED pseudo HGNC:38055 INFERRED 1313204 LIMS2 LIM and senescent cell antigen-like domains 2 This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 2 2 2 q14.3 121706938 121750307 - 128395996 128439360 - 127638421 127681786 - 1580863;2300344;6480464 16493410 11331308;12167643;12477932;14702039;15231748;15342556;15489334;16344560;16959213;20237496;20500520;21832049;23455922;23535033;25027693 55679 B3KNZ3;F8WEF3;H0Y592;Q7Z4I7 ABBA01040199;ABBA01040200;ABBA01040201;AC010976;AC074114;AF484961;AF520987;AF527764;AF527765;AF527766;AF527767;AF527768;AF527769;AF527770;AK000906;AK022470;AK055363;AK091652;AK093692;AK094954;AK095790;AK123014;AK297645;AL512716;AMYH02004735;AMYH02004736;AMYH02004737;AMYH02004738;BC001370;BC008977;BC065816;BP221000;BX458594;CA439343;CH471103;DA848179;DA890151;DC356496;DR006887;KF510755;NM_001136037;NM_001161403;NM_001161404;NM_001256542;NM_017980;XM_005263709;XM_005263710;XM_006712627;XM_006712628;XR_427100 AAH01370;AAH08977;AAH65816;AAM77350;AAM97589;AAQ09011;AAQ09012;AAQ09013;AAQ09014;AAQ09015;AAQ09016;AAQ09017;AAX93074;BAA91419;BAB14047;BAG51505;BAG60013;CAC21657;EAW95327;EAW95328;EAW95329;EAW95330;EAW95331;EAW95332;EAW95333;EAW95334;EAW95335;EAW95336;NP_001129509;NP_001154875;NP_001154876;NP_001243471;NP_060450;Q7Z4I7;XP_005263766;XP_005263767;XP_006712690;XP_006712691 Hs.469881 1657497;1665515;1680184;1709056;2119539;2150421;2181774;2184866 A008U17;RH65992;RH68397;RH70603;RH78384;SHGC-24307;SHGC-85672;WI-13493 FLJ10044;PINCH-2;PINCH2 ILK-binding protein;LIM and senescent cell antigen-like-containing domain protein 2;LIM-like protein 2;OTTHUMP00000162264;OTTHUMP00000203848;OTTHUMP00000203850;OTTHUMP00000203851;OTTHUMP00000203852;OTTHUMP00000203853;OTTHUMP00000203855;OTTHUMP00000203866;OTTHUMP00000205983;particularly interesting new Cys-His protein 2 APPROVED protein-coding ENSG00000072163 HGNC:16084 607908 VALIDATED 731642 LIN7A lin-7 homolog A (C. elegans) ENCODES a protein that exhibits L27 domain binding; INVOLVED IN exocytosis (inferred); inner ear development (inferred); neurotransmitter secretion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 12 12 12 q21 80857386 80997854 - 81191171 81331702 - 80797392 80937923 - 1580863;6480464;8554872 10228153;10341223;10753959;11311936;12110687;12477932;14596909;14722086;14960569;15024025;15494546;16192278;16688213;16855024;17237226;18286632;19615732;20379614;21832049;22053931;23259602;23718855;23782696;9482110;9753324;9822620 8825 H0YI92;H0YIA8;J3KN23;O14910 ABBA01053490;ABBA01053491;AC025568;AC068798;AC078886;AF028826;AF087693;AF173081;AK309256;AK315321;AMYH02026828;AMYH02026829;AMYH02026830;AMYH02026831;BC046926;BC062332;BC099921;BC118609;BC122561;CH471054;CR407680;KF495781;NM_004664;XM_005269212 AAB84251;AAC78481;AAD48500;AAH99921;AAI18610;AAI22562;BAG37724;CAG28608;EAW97370;EAW97371;NP_004655;O14910;XP_005269269 Hs.144333 1669776;1686428;1709378;1722387;1726393;1755409;2109469;5118085 G60266;G62497;G64269;LIN7A_8861;RH46592;RH66117;SHGC-142287;SHGC-81706 LIN-7A;LIN7;MALS-1;MGC148143;TIP-33;VELI1;hLin-7;lin-7-ba;veli-1 OTTHUMP00000243111;mammalian LIN-7 1;mammalian lin-seven protein 1;protein lin-7 homolog A;tax interaction protein 33;vertebrate LIN7 homolog 1;vertebrate lin-7 homolog 1 protein-coding ENSG00000111052 HGNC:17787 04542 603380 VALIDATED 735828 LIN7C lin-7 homolog C (C. elegans) ENCODES a protein that exhibits cytoskeletal protein binding; L27 domain binding; protein domain specific binding; INVOLVED IN morphogenesis of an epithelial sheet; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cell-cell junction; cytoplasm; extracellular vesicular exosome; INTERACTS WITH arsenous acid; cocaine; coumestrol 11 11 11 p14 27661655 27674034 - 27515965 27528326 - 27494418 27506779 - 1580863;6480464;8554872 10341223;12006486;12477932;14596909;14702039;14960569;15024025;16147993;16192275;16344560;17110338;17237226;17942893;17987659;18286632;18543122;18854154;19322201;19615732;20215397;20702775;21139048;21145499;21890473;21906983;22053931;22504420;23000965;24255178;24816145;8125298 55327 G3V1D4;Q9NUP9 ABBA01060970;AC100771;AF090900;AK002077;AK025540;AK223156;AL833601;AMYH02024504;BC009774;BC039459;BC053907;CH471064;DA231006;NM_018362 AAF24024;AAH53907;BAA92072;BAD96876;EAW68282;EAW68283;NP_060832;Q9NUP9 Hs.91393 1647358;1846909;2132137;2143440;5037552 A006U38;D11S1220;D11S4549;D8S2279;WI-17417 FLJ11215;LIN-7-C;LIN-7C;MALS-3;MALS3;VELI3;veli-3 LIN-7 protein 3;OTTHUMP00000232136;OTTHUMP00000232137;mammalian lin-seven protein 3;protein lin-7 homolog C;vertebrate lin-7 homolog 3 protein-coding ENSG00000148943 HGNC:17789 17279 612332 VALIDATED 1603391 LIN37 lin-37 DREAM MuvB core complex component This gene encodes a protein expressed in the eye. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 32952989 32958898 + 36239262 36245420 + 35748361 35754519 + 6480464;8554872 12477932;15057824;15479636;15489334;16189514;16712791;17207965;17531812;17671431;19471022;20360068;21498570;21693764;21890473;24250222 55957 K7ELP2;K7EMY4;M0QYM3;Q96GY3 ABBA01018763;AC002398;AD000671;AF162447;AK293116;AK301992;AMYH02035990;BC009071;BI767008;CB152701;DC396639;KC877720;KC877725;NM_019104 AAB81199;AAH09071;AAQ13584;ADQ31598;BAF85805;BAG63398;NP_061977;Q96GY3 Hs.529100 1680268;1693526;1847945;2166206 D19S615E;RH78604;RH91910;SHGC-58724 F25965;MGC9505;ZK418.4;lin-37 antolefinin;lin-37 homolog APPROVED protein-coding ENSG00000267796 HGNC:33234 16872 VALIDATED 1315617 LIN52 lin-52 DREAM MuvB core complex component INVOLVED IN G2/M transition of mitotic cell cycle (inferred); mitotic cell cycle (inferred); regulation of cell cycle (inferred); FOUND IN DRM complex (inferred); nucleoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; coumestrol; paracetamol 14 14 14 q24.3 54588612 54704404 + 74551656 74667117 + 74084953 74200414 + 6480464 12477932;14702039;15489334;17075059;17081983;17531812;17671431;18029348;20360068;20379614;20585627;21498570;21498571 91750 B3KN83;G3V5T8;Q52LA3 ABBA01030727;ABBA01030728;ABBA01030729;ABBA01030730;ABBA01030731;ABBA01030732;AC005484;AC006349;AK023979;AK055422;AK307062;AMYH02029509;AMYH02029510;AMYH02029511;AMYH02029512;AMYH02029513;BC009539;BC094003;BC094005;CH471061;NM_001024674 AAH94003;AAH94005;BAG51245;EAW81161;NP_001019845;Q52LA3 Hs.612866 1335152;1645807;1658821;1661746;1740685;1740687;1740701;1771283;1774740;2125934;2129361;2139581;2141775;2153499;2167845;5015961;5022200;5022450;5022578;5022651;5037552;7185495 D10S275;D11S2921;D14S1176;D14S1177;D14S1180;D14S71;D14S913;D15S1477;D1S1423;D8S2279;G35617;G35650;G35687;G35947;G36069;G38079;G38085;G38293;L18426;RH66518;WI-17063 C14orf46;c14_5549 OTTHUMP00000245434;OTTHUMP00000245435;chromosome 14 open reading frame 46;lin-52 homolog APPROVED protein-coding HGNC:19856 18708 VALIDATED 734321 LIN7B lin-7 homolog B (C. elegans) ENCODES a protein that exhibits protein domain specific binding; INVOLVED IN exocytosis (inferred); neurotransmitter secretion (inferred); protein transport (inferred); FOUND IN neuron projection (inferred); postsynaptic membrane (inferred); tight junction (inferred); INTERACTS WITH all-trans-retinoic acid; cyclosporin A; hydrogen peroxide 19 19 19 q13.3 46484840 46488937 + 49617618 49621717 + 49114361 49118460 + 1580863;6480464 10341223;11742811;12151522;12477932;12975309;14596909;14960569;15024025;15317815;16192269;16192277;16473877;16979770;17237226;18286632;19460752;20720508;9753324 64130 M0R2U1;Q9HAP6;S4R3R4 ABBA01032941;AC008687;AC245081;AF311862;AY358744;BC027618;CH471177;NM_022165;XM_005259149;XM_006723323;XR_243950 AAG34117;AAH27618;AAQ89104;EAW52454;EAW52455;NP_071448;Q9HAP6;XP_005259206;XP_006723386 Hs.221737 LIN-7B;MALS-2;MALS2;VELI2;hLin7B;hVeli2;lin-7-a;veli-2 OTTHUMP00000165836;OTTHUMP00000165837;mammalian lin-seven protein 2;protein lin-7 homolog B;vertebrate lin-7 homolog 2 protein-coding ENSG00000104863 HGNC:17788 10040 612331 VALIDATED 6769426 LINC-ROR long intergenic non-protein coding RNA, regulator of reprogramming 18 18 q21.31 54721802 54739350 - 57054571 57072119 - 21057500;21112873;23208419;23541921;23597480;24463816;24589415 100885779 ABBA01056127;AC100775;AMYH02034783;AMYH02034784;HG510043;HG975412;HQ315778;NR_048536 Hs.742426 lincRNA-RoR ncrna ENSG00000258609 HGNC:43773 615173 PROVISIONAL 1349797 LINC00032 long intergenic non-protein coding RNA 32 INTERACTS WITH valproic acid 9 9 9 p21 27173838 27210938 - 27245682 27282791 - 27245684 27282793 - 6480464 17099875 158035 P0C843 ABBA01065130;AF418573;AF507953;AL133411;AMYH02019349;AMYH02019350;HG501953;NR_026679 P0C843 Hs.201554 1727795 G63163 C9orf14;NCRNA00032 APPROVED ncrna ENSG00000231459 HGNC:16506 PREDICTED 1602380 LINC00051 long intergenic non-protein coding RNA 51 8 8 8 q24.3 139587706 139596282 + 143279717 143290364 + 142198356 142209003 + 12477932 619434 ABBA01029395;AC103758;AMYH02018914;BC008253;HG501767;NR_024378 Hs.393308 C8orf43;NCRNA00051 APPROVED ncrna ENSG00000254008 HGNC:32028 PREDICTED 1348970 LIN9 lin-9 DREAM MuvB core complex component This gene encodes a tumor suppressor protein that inhibits DNA synthesis and oncogenic transformation through association with the retinoblastoma 1 protein. The encoded protein also interacts with a complex of other cell cycle regulators to repress cell cycle-dependent gene expression in non-dividing cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 1 1 1 q42.12 199609841 199688109 - 226418850 226497789 - 226231149 226310088 - 6480464;8554872 11076766;12477932;14702039;15479636;15489334;15538385;16730350;17081983;17098733;17159899;17531812;17563750;17618148;17671431;18029348;18548008;19619530;20101237;20360068;20360844;20379614;21139048;21480327;21498570;21860417;21890473;22037783;22391450;23381944;23667535;24141769;24475316 286826 B1B047;C9J5J4;H0Y322;H7C4T7;Q5TKA1;Q6P142 ABBA01009641;ABBA01009642;AF190323;AF190324;AK125690;AK126177;AK308823;AL359742;AMYH02002810;AMYH02002811;AMYH02002812;AMYH02002813;AMYH02002814;AY166858;AY166859;AY786184;BC043444;BC045625;BC065302;BX284931;BX537869;CH471098;NM_001270409;NM_001270410;NM_173083;XM_005273102;XM_006711766;XM_006711767 AAH43444;AAH45625;AAH65302;AAN87840;AAN87841;AAQ13710;AAQ13711;AAV41873;BAC86475;CAD97871;EAW69780;EAW69781;EAW69782;NP_001257338;NP_001257339;NP_775106;Q5TKA1;XP_005273159;XP_006711829;XP_006711830 Hs.120817 1698434 RH102762 BARA;BARPsv;Lin-9;TGS;TGS1;TGS2;hLin-9;huLin-9 OTTHUMP00000035665;OTTHUMP00000035666;OTTHUMP00000216685;OTTHUMP00000216686;TUDOR gene similar protein;beta subunit-associated regulator of apoptosis;lin-9 homolog;pRB-associated protein;rb related pathway actor;type I interferon receptor beta chain-associated protein APPROVED protein-coding ENSG00000183814 HGNC:30830 13990 609375 REVIEWED 1606970 LIN54 lin-54 DREAM MuvB core complex component LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010] 4 4 4 q21.22 81136312 81224592 - 83845756 83934097 - 82924603 83012941 - 6480464;8554872 12477932;15479636;17531812;17671431;19322201;19471022;19725879;20360068;20379614;21498570;21693764;21963094;22895175 132660 D6REW4;Q6MZP7;Q7Z3G2 AB111889;ABBA01063449;ABBA01063450;ABBA01063451;ABBA01063452;AC021105;AI208524;AK292769;AK294256;AK299787;AMYH02009610;AMYH02009611;AMYH02009612;BC109277;BC109278;BX108765;BX537919;BX640657;BX640966;CH471057;CK819664;CX871759;DC335927;DC407712;NM_001115007;NM_001115008;NM_001288996;NM_001288997;NM_194282;NR_110253;NR_110254;XM_005262749;XM_005262750;XM_005262752;XM_006714081 AAI09278;AAI09279;ACE86510;ACE86511;ACE87191;ACE87192;BAC98377;BAF85458;BAG57551;BAG61668;CAD97902;CAE45799;CAE45981;EAX05917;EAX05918;EAX05919;EAX05920;NP_001108479;NP_001108480;NP_001275925;NP_001275926;NP_919258;Q6MZP7;XP_005262806;XP_005262807;XP_005262809;XP_006714144 Hs.96952 5015619;5037552 D11S3114;D8S2279 CXCDC1;DKFZp686L1814;JC8.6;MGC129905;MIP120 CXC domain containing 1;CXC domain-containing protein 1;OTTHUMP00000160794;OTTHUMP00000219378;OTTHUMP00000219379;OTTHUMP00000219380;OTTHUMP00000219382;OTTHUMP00000219384;lin-54 homolog APPROVED protein-coding ENSG00000189308 HGNC:25397 13218 613367 VALIDATED 7248244 LINC-PINT long intergenic non-protein coding RNA, p53 induced transcript ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH succimer (ortholog) 7 7 7 q32.3 125379974 125544600 - 130628919 130793562 - 130880992 130913310 - 6480464;8554872 11181995;12107413;12477932;12690205;14702039;16344560;20038947;21908515;24070194;24127041;24381249;24403052;24663402 378805 AA281849;ABBA01057568;ABBA01057569;ABBA01057570;ABBA01057571;ABBA01057572;ABBA01057573;ABBA01057574;ABBA01057575;ABBA01057576;ABBA01057577;ABBA01057578;AC013434;AC016831;AC058791;AI743239;AK095549;AK125651;AL569506;AL713664;AMYH02016765;AMYH02016766;AMYH02016767;AMYH02016768;AV727262;BC039420;BC047367;BC130416;BG706681;BI833488;BI914823;BX451434;CA412672;CD673688;DA182364;DA321983;DB472406;GU321462;GU321464;GU321466;HG500612;HG500613;HG500614;HG500617;HG500618;HG500619;HG500620;HG500621;HG500622;HG500624;KF458598;NR_015431;NR_024153;NR_034120;NR_109850;NR_109851;NR_109852;NR_109853;NR_109854;NR_109855;NR_110472;NR_110473;R67739 Hs.150556;Hs.649308;Hs.702887;Hs.744176 LincRNA-Pint;MKLN1-AS1;PINT APPROVED ncrna ENSG00000231721 HGNC:26885 VALIDATED 1351750 LINC00029 long intergenic non-protein coding RNA 29 20 20 20 q13.33 58342168 58344979 - 61665569 61668380 - 63034217 63037028 - 11181995;11780052;12477932;22219177 100144596 AA609342;ABBA01021379;AL117533;AL121673;AMYH02037448;BC069708;BC134343;CH471077;HG511533;NR_028295 EAW75309;EAW75310 Hs.187773 C20orf51;DKFZp434E222;MGC133148;NCRNA00029;bA305P22.4 APPROVED ncrna HGNC:16184 PREDICTED 1350309 LINC00028 long intergenic non-protein coding RNA 28 20 20 20 q11.21 26829771 26831559 + 30073581 30075377 + 31485778 31487574 + 140875 ABBA01019309;AI675392;AL121751;AMYH02036895;BX280465;HG511296;NR_024358 Hs.283478 1689069 RH91899 C20orf93;NCRNA00028;dJ1093G12.6 APPROVED ncrna ENSG00000233354 HGNC:16224 VALIDATED 1605492 LINC00086 long intergenic non-protein coding RNA 86 INTERACTS WITH (+)-catechin; trichostatin A X X X q26.3 134939821 134944178 + 134555868 134560225 + 135421943 135426300 + 6480464 12107410;12477932;15146197 399668 ABBA01050067;ABBA01050068;AL450472;AMYH02040554;BC030620;BC051704;CA389121;CN430413;DR001138;NR_024359 Hs.374414 MGC39606;NCRNA00086 APPROVED ncrna HGNC:34499 14610 VALIDATED 2301114 LINC00087 long intergenic non-protein coding RNA 87 INTERACTS WITH (+)-catechin; 17beta-estradiol; all-trans-retinoic acid X X X q26.3 134615832 134619550 - 134229015 134232733 - 135094985 135098703 - 6480464 644596 ABBA01042522;AK123302;AL590325;AMYH02040539;NR_024493 Hs.656427 FLJ41308;NCRNA00087 APPROVED ncrna ENSG00000196972 HGNC:34500 VALIDATED 2300350 LINC00092 long intergenic non-protein coding RNA 92 9 9 9 q22.32 69223629 69225652 - 98782014 98784037 - 96019732 96021755 - 100188953 ABBA01043601;AL159167;AMYH02021289;BC043559;NR_024129 Hs.434310 1675255;5022578 D1S1423;SGC31721 NCRNA00092;bA346B7.1 APPROVED ncrna ENSG00000225194 HGNC:31408 PREDICTED 2303659 LINC00052 long intergenic non-protein coding RNA 52 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; coumestrol; resveratrol 15 15 15 q25.3 64520964 64523721 + 88120160 88122917 + 87576929 87579686 + 6480464 12477932;14702039;23594818 145978 Q96N35 ABBA01052990;AC020687;AK056023;AMYH02030997;BC066551;CH471101;CS223363;HG507372;NR_026869 BAB71075;CAJ46921;EAX01986;Q96N35 Hs.350808 5493217 UniSTS:485342 FLJ31461;NCRNA00052;TMEM83 APPROVED ncrna ENSG00000259527 HGNC:26455 08101 VALIDATED 3497317 LINC00102 long intergenic non-protein coding RNA 102 X;Y X;Y p22.33 and Yp11.31 2481032 2483388 - 2612991 2615347 - 100359394 ABBA01038606;AC097314;AMYH02038710;BC034825;NR_037842 Hs.571720 NCRNA00102 APPROVED ncrna ENSG00000230542 HGNC:30470 VALIDATED 1603233 LINC00106 long intergenic non-protein coding RNA 106 p22.33; Yp11.32 8048971;8889549 751580 D29222;H65775;H65776;R00579 Hs.495569 CXYorf8;NCRNA00106 APPROVED ncrna HGNC:31843 1605742 LINC00108 long intergenic non-protein coding RNA 108 X;Y p22.33;Yp11.32 170411 172713 + 677739 ABBA01005326;AL954722;AMYH01021950;NG_005526 CXYorf11;NCRNA00108 APPROVED pseudo HGNC:31847 INFERRED 1345802 LINC00113 long intergenic non-protein coding RNA 113 21 21 21 q21.3 14277973 14306827 + 29094698 29123552 + 27722379 27751233 + 10830953 54088 ABBA01057231;ABBA01057232;AI261615;AI793052;AMYH02037672;AP001608;BF434914;HG511687;HG511688;HG511689;NR_024357 Hs.570434 1334615 D21S1915 C21orf23;NCRNA00113 APPROVED ncrna ENSG00000225298 HGNC:1264 VALIDATED 9586377 LINC00083 long intergenic non-protein coding RNA 83 ENCODES a protein that exhibits carbohydrate binding (inferred) 1 1 1 q25.2 151572655 151573356 - 178463034 178468769 - 178493899 178499634 - 400797 Q6ZU45 ABBA01027835;AK125993;AL035702;AL513013;AMYH02002219;KF455100;LN607888;XR_241155;XR_248661;XR_250908 BAC86382;Q6ZU45 Hs.591460 NCRNA00083 protein-coding HGNC:34521 16970 MODEL 2301593 LINC00115 long intergenic non-protein coding RNA 115 INTERACTS WITH hydrogen peroxide 1 1 1 p36.33 574 1105 + 761586 762902 - 826206 827522 - 6480464 12477932 79854 Q9H632 ABBA01016000;AK026292;AL669831;AMYH02000068;BC017762;NR_024321 BAB15434 Hs.351445 FLJ22639;NCRNA00115 APPROVED ncrna ENSG00000225880 HGNC:26211 08000 VALIDATED 1353518 LINC00111 long intergenic non-protein coding RNA 111 21 21 21 q22.3 28249282 28267294 + 43099462 43117496 + 41679302 41697336 + 10830953 54090 ABBA01012805;ABBA01012806;AMYH02037864;AP001614;AP001615;BX099637;HG511843;NR_024367 Hs.570442 1790641;2160384 D21S1426;STS_CEB272 C21orf21;NCRNA00111 APPROVED ncrna HGNC:1262 VALIDATED 1344622 LINC00112 long intergenic non-protein coding RNA 112 21 21 21 q22.3 28286392 28287538 + 43136596 43137742 + 41716436 41717582 + 10830953;11707072 54089 AA417025;ABBA01012805;AMYH02037864;AP001615;AY040089;HG511848;NR_024028 Hs.98186 1680188 RH98449 C21orf22;NCRNA00112 APPROVED ncrna ENSG00000232401 HGNC:1263 VALIDATED 1346338 LINC00159 long intergenic non-protein coding RNA 159 21 21 q22.11 33452794 33458608 - 32080481 32086295 - 11329013 100551499 ABBA01057308;AMYH02037721;AP000263;BG210590;NR_038033 Hs.224449 1653057 D21S1243 C21orf44;NCRNA00159 APPROVED ncrna HGNC:1285 PREDICTED 2300360 LINC00094 long intergenic non-protein coding RNA 94 INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; tert-butyl hydroperoxide 9 9 9 q34 107438790 107444948 + 136890561 136896719 + 134025439 134031597 + 6480464 12477932;14702039;16751776 266655 ABBA01021990;AK092667;AL445931;AMYH02021844;AY203934;BC053543;BC065204;BC094875;BC108326;BI550746;DQ584426;DQ587601;HG502511;HG502512;HG502513;HG502514;NR_015427 Hs.654869 1647189;1647191;1738357;1738359;1856076;2122954;2132497;2132499;2140484;2151781;2156150;2157493;5020274 A001Y18;A006H47;A008W26;D11S4285;D9S1018E;D9S1341;D9S1342;D9S2096;G19779;G20827;L18441;RH12035;STS-W74619 FLJ35348;LP2477;NCRNA00094;bA374P20.3 APPROVED ncrna HGNC:24742 VALIDATED 1353252 LINC00158 long intergenic non-protein coding RNA 158 ASSOCIATED WITH Lung Neoplasms (inferred) 21 21 21 q21.3 11941791 11987671 - 26758133 26804013 - 25385820 25431701 - 8554872 10830953;11707072 54072 P58513 AA437209;ABBA01057209;AMYH02037643;AP000220;AP001348;AY035382;AY035383;CH471079;HG511665;HG511666;HG511668;KF511358;NR_024027 AAK60446;AAK60447;EAX09985;P58513 Hs.234016 1679654;1725407;1729628;1730602;5492775;7186300 D21S221;D21S289;RH119021;RH92613;UniSTS:482452 C21orf42;NCRNA00158 APPROVED ncrna ENSG00000185433 HGNC:1283 10748 VALIDATED 1342962 LINC00160 long intergenic non-protein coding RNA 160 21 21 21 q22.12 21295678 21309053 + 36096105 36109479 - 34723807 34737182 - 10830953 54064 ABBA01057369;AI761253;AMYH02037757;AP000330;BF511060;BX110236;HG511772;KF511410;NR_024351 Hs.436868 1713115 RH120345 C21orf52;NCRNA00160 APPROVED ncrna ENSG00000230978 HGNC:1294 VALIDATED 1349082 LINC00114 long intergenic non-protein coding RNA 114 21 21 21 q22.2 25308613 25343145 - 40110879 40145401 - 38738955 38773477 - 10830953;14693372 400866 Q6XXX2 ABBA01011090;AMYH02037817;AMYH02037818;AP001038;AP001039;AY204744;AY204745;AY204746;AY204747;AY204748;AY204749;AY204750;BF002570;HG511808;HG511810;NR_027065;NR_027066;NR_027067 AAP41721;AAP41722;Q6XXX2 Hs.278704 2119317;5022651;5109281 D11S2921;D1S1425;G29030 C21orf24;NCRNA00114 APPROVED ncrna ENSG00000223806 HGNC:1265 10744 611723 PREDICTED 1602308 LINC00152 long intergenic non-protein coding RNA 152 INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; cisplatin 2 2 2 p11.2 105885595 105885908 + 87754974 87821037 + 87455455 87521518 + 6480464 12477932;22689435;23801869;24036268;24523021;8889548 112597 AC068491;AC133644;AK312010;AMYH02004230;AMYH02004231;BC009508;BC010491;BC070202;BC073906;BM989746;CF129206;CH878354;DW440910;ES312964;HG494263;HG494266;HG494267;HG494269;NR_024204;NR_024205;NR_024206 AAY24009;AAY24059;BAG34948;EAW50475 Hs.652166 1679115;1721475;1756075;1783934;2147369;2168105 G59591;RH44348;RH99136;SHGC-111923;SHGC-142874;WIAF-2173 AC133644.1;C2orf59;MGC17532;MGC4677;MGC88182;NCRNA00152 APPROVED ncrna ENSG00000222041 HGNC:28717 14654 VALIDATED 1641971 LINC00163 long intergenic non-protein coding RNA 163 21 21 21 q22.3 31516360 31520620 - 46409779 46414001 - 44989864 44994086 - 16826516 727699 ABBA01074180;ABBA01074181;AMYH02037921;AMYH02037922;AP001505;BC036902;BC046564;NR_033840 Hs.397403 C21orf134;NCRNA00163;NLC1-A;NLC1A APPROVED ncrna ENSG00000234880 HGNC:33165 610259 VALIDATED 2303856 LINC00116 long intergenic non-protein coding RNA 116 FOUND IN integral component of membrane (inferred); INTERACTS WITH valproic acid 2 2 2 q13 104826911 104838322 + 110969106 110980517 - 110211529 110222940 - 6480464 12477932 205251 Q8NCU8 ABBA01015966;AC092664;AC140479;AC245043;AF504645;BC031315;BC064430;BC133660;CH878608;NR_027063 AAM28196;EAW50629;Q8NCU8 Hs.128499 1336245 D8S530 NCRNA00116 APPROVED ncrna HGNC:27339 14131 PREDICTED 2837599 LINC00165 long intergenic non-protein coding RNA 165 q22.3 12477932;16826516 727701 BC009635 Hs.382029 C21orf135;NCRNA00165;NLC1-B;NLC1B APPROVED ncrna HGNC:33166 1603512 LINC00174 long intergenic non-protein coding RNA 174 INTERACTS WITH aflatoxin B1; thapsigargin; tunicamycin 7 7 7 q11.21 66250738 66272630 + 65841031 65865395 - 66376044 66400408 - 6480464 12477932;12853948;14702039;15489334;16344560 285908 AA412349;ABBA01048989;AC008267;AK091213;AK092625;AK124597;AMYH02015905;AMYH02015906;AMYH02015907;AMYH02015908;AMYH02015909;AW008847;BC020399;BC093655;BC093657;BQ645787;CH236961;CH471140;DB067709;HG500304;HG500305;NR_026873 EAX07935 Hs.50755 1685175;2176016;5493251 RH46432;RH75452;UniSTS:485442 NCRNA00174 APPROVED ncrna ENSG00000179406 HGNC:27788 14160 VALIDATED 1602029 LINC00173 long intergenic non-protein coding RNA 173 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3-methylcholanthrene; 5-aza-2'-deoxycytidine; cisplatin 12 12 12 q24.22 116600674 116603765 + 116971227 116974318 + 116533422 116536513 + 6480464;8554872 12477932;14702039;15489334 100287569 Q6ZV60 ABBA01020013;AC090670;AK124947;AMYH02027292;BC038547;BC121822;BC122872;NR_027345;NR_027346 BAC86003;Q6ZV60 Hs.441601 FLJ42957;MGC148154;MGC148155;NCRNA00173 APPROVED ncrna ENSG00000196668 HGNC:33791 VALIDATED 1603346 LINC00176 long intergenic non-protein coding RNA 176 INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',5-triiodo-L-thyronine 20 20 20 q13.33 59351802 59357420 + 62665697 62671315 + 64034344 64039962 + 6480464 14702039;16344560 284739 Q6ZNR8 ABBA01021438;AK130777;AK310631;AL157500;AL355803;AMYH02037479;BC033342;DA111479;HG511551;HG511552;HG511553;HG511554;NR_027686;NR_027687 BAC85427;Q6ZNR8 Hs.97840 5493575 UniSTS:487282 DKFZp434G015;FLJ17673;FLJ27267;NCRNA00176;PRR17 APPROVED ncrna ENSG00000196421 HGNC:27655 17341 VALIDATED 2312698 LINC00184 long intergenic non-protein coding RNA 184 1 1 1 q42.3 208035294 208040763 + 234765057 234770526 + 234629311 234634780 + 100302691 ABBA01033104;AJ421679;AL160408;AMYH02002929;BU950959;CK818308;NR_033927 Hs.209162 HANC;NCRNA00184 APPROVED ncrna ENSG00000224939 HGNC:37192 VALIDATED 1345113 LINC00161 long intergenic non-protein coding RNA 161 INTERACTS WITH benzo[a]pyrene; silicon dioxide 21 21 21 q21.3 15094933 15095970 + 29911640 29912677 + 28539318 28540355 + 6480464 12036297;12477932;15489334 118421 ABBA01057240;AF165147;AMYH02037677;AW451670;AY063458;AY063459;BC101414;BC101416;BC101419;BC101420;CH471079;NR_026552;NR_026553 AAL60598;AAL60599;EAX09942;EAX09943 Hs.438549 2220656 UniSTS:487166 C21orf100;MGC125397;MGC125398;MGC125399;MGC125400;NCRNA00161 APPROVED ncrna ENSG00000226935 HGNC:17138 10733 VALIDATED 1345073 LINC00189 long intergenic non-protein coding RNA 189 21 21 21 q22.11 15749254 15843641 + 30565815 30660526 + 29193494 29288205 + 12036298;12477932;23443559;24009623 193629 ABBA01057257;AF124730;AF124731;AF490769;AMYH02037693;BC065252;KC877848;KC877850;NR_027072 AAM18047 Hs.720711 1756187 SHGC-143045 C21orf109;NCRNA00189 APPROVED ncrna ENSG00000215533 HGNC:18461 PREDICTED 1353902 LINC00202-1 long intergenic non-protein coding RNA 202-1 10 10 10 p12.1 26936625 26947423 - 27220135 27230930 - 26931206 26942001 - 12477932;14702039 387644 ABBA01034405;ABBA01034406;AK097405;AK128027;AL365501;AMYH02022505;AMYH02022506;AMYH02022507;BC038408;HG502751;HG502752;NR_026795 Hs.529965 1685303;5022322 D11S2560;RH92912 C10orf51;FLJ40086;FLJ46146;LINC00202;NCRNA00202;bB27G4.1 APPROVED ncrna ENSG00000232224 HGNC:24672 VALIDATED 2301591 LINC00167 long intergenic non-protein coding RNA 167 11 11 11 q24.3 127040672 127043534 + 129872519 129875381 + 130002624 130005486 + 12477932;14702039 440072 Q96N53 ABBA01023024;AK055956;AMYH02025781;AP003041;BC137306;BC137307;NR_024233 BAB71056;Q96N53 Hs.630600 5015961 D15S1477 C11orf37;FLJ31394;MGC168926;MGC168927;NCRNA00167 APPROVED ncrna HGNC:30468 16931 VALIDATED 1605188 LINC00200 long intergenic non-protein coding RNA 200 INTERACTS WITH arsenite(3-) 10 10 10 p15.3 1154821 1159769 + 1205708 1210612 + 1159768 1164672 + 6480464 12477932;14702039 399706 ABBA01035258;AK097673;AL607085;AMYH02021986;BC133038;BC133040;CH471072;HG502572;NR_015376 EAW86512 Hs.721191 1762571 SHGC-146377 C10orf139;FLJ40354;NCRNA00200;RP11-529L18.1 APPROVED ncrna ENSG00000229205 HGNC:30974 17990 PREDICTED 7205184 LINC00202-2 long intergenic non-protein coding RNA 202-2 10 10 10 p12.1 26643682 26654032 + 26932037 26942383 + 26643108 26653454 + 16344560 731789 ABBA01034414;AL390961;AMYH02022498;BX105108;CR749234;DB068553;HG502745;HG502746;NR_026794 CAH18090 Hs.178186 1663898 WI-11372 RP13-16H11.1 ncrna HGNC:44917 VALIDATED 1603150 LINC00207 long intergenic non-protein coding RNA 207 22 22 22 q13.31 28877119 28880228 + 44965220 44968329 + 44569340 44572449 + 12477932;22566634 388910 ABBA01017862;AL022333;AMYH02038494;BC144506;BC144508;BU585030;HG512343;HG512344;HG512345;NR_028409;NR_028410;NR_028411 Hs.332685 1711602;1711604 G49302;G49303 NCRNA00207 APPROVED ncrna ENSG00000187012 HGNC:37255 18389 VALIDATED 1346760 LINC00208 long intergenic non-protein coding RNA 208 8 8 p23.1 11434044 11438850 + 11576535 11581341 + 11896452;24024966 83655 Q96KT6 ABBA01026878;AC022239;AJ291678;AMYH02017439;HG500902;NR_040035 CAC82745;Q96KT6 Hs.742430 C8orf14;NCRNA00208;VIR35 APPROVED ncrna ENSG00000170983 HGNC:15535 VALIDATED 6769429 LINC00210 long intergenic non-protein coding RNA 210 1 1 q41 218066242 218094146 + 217892900 217920804 + 100885798 ABBA01048107;ABBA01048108;ABBA01048109;AL357975;AL445428;AL591414;AMYH02002704;AMYH02002705;BC040896;HG493214;NR_048550 Hs.434632 NCRNA00210 ncrna ENSG00000231814 HGNC:37458 VALIDATED 6481424 LINC00211 long intergenic non-protein coding RNA 211 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 p22.2 38053390 38056541 - 37826247 37875863 - 8554872 14702039;16344560 101929559 ABBA01074985;ABBA01074986;AC010878;AK057187;AMYH02003618;AMYH02003619;BG430067;DB092735;HG493851;HG493852;HY016653;NR_110011;NR_110012 Hs.468200;Hs.722926 NCRNA00211 ncrna ENSG00000237803 HGNC:37459 VALIDATED 4892547 LINC00216 long intergenic non-protein coding RNA 216 q22.3 55451 AF116641;CH471061 AAF71064;EAW80726 C14orf107;NCRNA00216;PRO1617 APPROVED ncrna HGNC:20191 1343544 LINC00221 long intergenic non-protein coding RNA 221 ASSOCIATED WITH Lung Neoplasms (inferred) 14 14 14 q32.33 86876334 86889394 + 106938455 106951529 + 106482439 106495515 + 8554872 11181995;9841928 338005 Q86TR5 AB019438;ABBA01040616;AC244452;AK058096;BX161407;BX248748;BX356743;CH471061;DB461309;NG_001019;NR_027457 CAD61886;CAD66555;EAW82003 Hs.322826 1752313 SHGC-106213 C14orf98;FLJ25367;NCRNA00221 chromosome 14 open reading frame 98 APPROVED ncrna ENSG00000270816 HGNC:20169 VALIDATED 1348638 LINC00205 long intergenic non-protein coding RNA 205 21 q22.3 45290197 45295783 - 6480464 12036297;12477932 102723489;257103 P59089 AF426264;BX322557;CH471079;EL950881;NM_153454;XM_006724071 AAM53520;EAX09348;P59089;XP_006724134 Hs.11637;Hs.695882 C21orf86;NCRNA00205 APPROVED ncrna HGNC:16420 MODEL 1350477 LINC00229 long intergenic non-protein coding RNA 229 22 22 q13.3 45002208 45021299 - 44606328 44625419 - 22566634 414351 ABBA01017860;AL022333;AMYH02038494;BX090786;HG512347;NR_044991 Hs.572878 C22orf10;NCRNA00229;RP3-474I12.6;dJ474I12.C22.2 APPROVED ncrna HGNC:13240 VALIDATED 1347542 LINC00226 long intergenic non-protein coding RNA 226 14 14 14 q32.33 86674763 86675460 + 106744269 106744966 + 106287674 106288372 + 338004 AB019439;ABBA01074095;AC245166;AI651027;AW205017;AW339903;BE672883;NR_033375 Hs.569411;Hs.733991 C14orf97;NCRNA00226 APPROVED ncrna HGNC:20168 VALIDATED 1604895 LINC00238 long intergenic non-protein coding RNA 238 INTERACTS WITH silicon dioxide 14 14 14 q23.3 47012167 47024330 + 66953109 66965271 + 66486371 66498553 + 6480464 12477932 440184 ABBA01023725;AL355093;AMYH02029390;BC033546;BC056671;BC070365;BI829888;CH471061;NR_024338;NR_110307;NR_110308 EAW80921;EAW80922 Hs.412138 C14orf53;MGC88374;NCRNA00238 APPROVED ncrna ENSG00000196553 HGNC:20100 14708 VALIDATED 1349170 LINC00243 long intergenic non-protein coding RNA 243 6 6 p21.33 30780643 30798436 - 30812866 30830659 - 14702039;20848476;22566498;22688191;23382691 401247 ABBA01038061;AK098012;AL662797;AL662848;AL773551;AL805917;AMYH02013437;BX927194;CR388215;CR847861;CT009501;XR_158806;XR_159105;XR_159139;XR_159141;XR_159144;XR_159458;XR_171562 BAC05215 Hs.722921 1790831;2189693;2220198;5037552;7184116 C4_2_12;D6S2700;D6S2827;D8S2279 C6orf214;FLJ40693;NCRNA00243;bQB10J12.2;bQB230F21.2 non-protein coding RNA 243 APPROVED ncrna ENSG00000214894 HGNC:30956 MODEL 1352219 LINC00239 long intergenic non-protein coding RNA 239 INTERACTS WITH benzo[a]pyrene 14 14 14 q32.31 82251595 82253683 + 102196774 102198862 + 101730437 101732525 + 6480464 11181995 145200 ABBA01048507;AI304659;AL355032;AMYH02029879;BX113211;CH471061;CK904714;LN608555;NR_026774 EAW81751 Hs.150840 C14orf72;NCRNA00239 APPROVED ncrna ENSG00000258512 HGNC:20119 VALIDATED 1346647 LINC00244 long intergenic non-protein coding RNA 244 INTERACTS WITH nickel sulfate 7 7 7 q36 150760401 150761011 + 156333185 156333795 + 156540491 156541101 + 6480464 10329000;12853948 64433 ABBA01032377;AC073871;AF107456;AMYH02017146;CH236954;NR_024119 Hs.404170 1855348 WIAF-2185 C7orf4;NCRNA00244 APPROVED ncrna ENSG00000279418 HGNC:13245 VALIDATED 1351430 LINC00222 long intergenic non-protein coding RNA 222 6 6 6 q21 109818761 109837047 + 109072857 109091145 + 108751654 108769942 + 15790807;15998911;23535732 387111 ABBA01026142;AMYH02014276;AY927443;AY927444;AY927445;AY927446;AY927447;AY927448;AY927449;HG499509;HG499510;HG499511;HG499512;HG499513;NR_033376;Z95118 Hs.520310 2183567 D6S1254 C6orf181;NCRNA00222;RP3-354J5.2;dJ354J5.2 APPROVED ncrna ENSG00000203801 HGNC:21560 VALIDATED 1350933 LINC00261 long intergenic non-protein coding RNA 261 INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 20 20 20 p11.21 22614631 22632724 - 22541191 22559280 - 22560553 22578642 - 6480464 11181995;11752456;22581228;22681909;23801869 140828 ABBA01016168;AL121722;AL356742;AMYH02036827;AV648632;BG655894;CH471133;HG511254;NR_001558 EAX10176 Hs.9842 1853365;1855340;2115007 SHGC-36334;SHGC-37039;WI-11485 C20orf56;HCCDR1;NCRNA00261;bA216C10.1;dJ788L20.2 APPROVED ncrna ENSG00000259974 HGNC:16189 VALIDATED 4110643 LINC00260 long intergenic non-protein coding RNA 260 1 1 1 q32.1 176830260 176830430 + 203699705 203700981 + 203730577 203731853 + 12477932 84719 ABBA01027472;AC114402;AMYH02002517;BC000988;CH471067;NR_046213 AAH00988;EAW91488 Hs.661178 5015961;5022450;5024761 D10S275;D15S1477;RH36905 C1orf217;MGC5457;NCRNA00260 APPROVED ncrna HGNC:28770 VALIDATED 1348649 LINC00263 long intergenic non-protein coding RNA 263 10 10 10 q24.31 95871209 95885987 + 102133333 102148111 + 100373576 100388354 + 737633 12477932 14702039;16712791 90271 ABBA01063228;AK023036;AL139819;AMYH02023653;BC024924;BC045787;BC062533;CB159470;NR_026762 Hs.628088 C10orf75;FLJ12974;NCRNA00263;bA34D15.5 APPROVED ncrna HGNC:28060 VALIDATED 1347530 LINC00240 long intergenic non-protein coding RNA 240 6 6 6 p22.2 28541896 28597415 + 26924772 26991753 + 26956993 27023974 + 12477932 100133205 ABBA01037984;ABBA01037985;ABBA01037986;AI028608;AL133255;AL590062;AMYH02013374;BC031943;BC044768;BX647648;NR_026775 Hs.526951 1669264 D6S1918 C6orf41;NCRNA00240;bA373D17.1 APPROVED ncrna ENSG00000224843 HGNC:18772 VALIDATED 2300136 LINC00251 long intergenic non-protein coding RNA 251 ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 q13.1 66073380 66092575 - 65161145 65180340 - 8554872 552859 ABBA01041858;AC104343;AMYH02018089;AMYH02018090;AW118206;BX110670;NR_038901 Hs.156997 C8orf25;NCRNA00251 APPROVED ncrna HGNC:31950 VALIDATED 1344699 LINC00254 long intergenic non-protein coding RNA 254 ASSOCIATED WITH Lung Neoplasms (inferred) 16 16 16 p13.3 2140497 2146443 - 1928286 1934232 - 1878285 1884231 - 8554872 64735 ABBA01030290;ABBA01030291;AC226762;AI209093;AL499628;AMYH02031238;AMYH02031239;AW592188;BE041842;NR_033914 Hs.662737 C16orf32;FLJ60954;NCRNA00254 non-protein coding RNA 254 APPROVED ncrna ENSG00000162039 HGNC:14160 VALIDATED 1344460 LINC00242 long intergenic non-protein coding RNA 242 INTERACTS WITH benzo[a]pyrene 6 6 6 q27 170898669 170908704 - 170188886 170198921 - 169788790 169798825 - 6480464 12477932;14574404;14702039;15489334 401288 Q5T6M2 ABBA01016120;AK056013;AL354892;AMYH02015005;BC119778;BC122871;NR_026781 BAB71073;Q5T6M2 Hs.556095 C6orf122;FLJ31451;NCRNA00242;dJ266L20.5 APPROVED ncrna ENSG00000229214 HGNC:21249 16657 VALIDATED 1602269 LINC00265 long intergenic non-protein coding RNA 265 INTERACTS WITH (+)-catechin 7 7 7 p14.1 39760680 39820124 + 39773167 39834222 + 39733568 39794623 + 12477932;14702039;16344560;16751776;19019082;21890473;21906983 349114 Q8N836 ABBA01058144;ABBA01058145;AC004837;AC004987;AI304809;AK097404;AMYH02015566;AMYH02015567;BC038571;BC053841;CH236951;DA726117;DQ575856;HG500201;HG500202;NR_026999 BAC05037 Hs.414183 1706708;1769603 GDB:1317952;SHGC-82859 AC004987.7;NCRNA00265 APPROVED ncrna HGNC:28019 14182 VALIDATED 3077605 LINC00266-2P long intergenic non-protein coding RNA 266-2, pseudogene Y Y q11.23 26424685 26437623 + 24278538 24291476 + 100287785 ABBA01030399;ABBA01030400;ABBA01030401;AC012005;NG_029403 2188783 G66477 NCRNA00266-2P;NCRNA00266B;NCRNA00266Y;NCRNA00266Y1 APPROVED pseudo HGNC:38529 INFERRED 1353836 LINC00266-3 long intergenic non-protein coding RNA 266-3 6 6 p25.3 54015 92544 - 140264 148159 - 441123 ABBA01026865;AL035696;AL353654;AMYH02012954;DB459734;NR_109817 C6orf88;NCRNA00266-3;NCRNA00266C;dJ24O22.2 APPROVED ncrna ENSG00000170590 HGNC:21112 VALIDATED 1345207 LINC00264 long intergenic non-protein coding RNA 264 INTERACTS WITH (+)-catechin 10 10 10 p12.1 26590434 26594900 + 26878794 26883253 + 26589865 26594324 + 645528 ABBA01034417;AL160287;AMYH02022497;BC038537;HG502743;NR_026793 Hs.634511 C10orf50;NCRNA00264;bA128B16.2 APPROVED ncrna ENSG00000233261 HGNC:17776 VALIDATED 3160484 LINC00265-3P long intergenic non-protein coding RNA 265-3, pseudogene Y Y q11.23 27538928 27540307 - 25392781 25394160 - 9847074 100287470 AC006328;NG_004755 NCRNA00265-3P;NCRNA00265C APPROVED pseudo HGNC:38536 VALIDATED 1626579 LINC00269 long intergenic non-protein coding RNA 269 X X q13.1 68399400 68429767 + 69179557 69209924 + 11181995;14702039 100996279 Q8N2A0 ABBA01067433;ABBA01067434;ABBA01067435;ABBA01067436;ABBA01067437;ABBA01067438;AK090929;AL157699;AL353140;AMYH02039647;CH471132;HG512557;NR_103715 BAC03549;EAX05366;Q8N2A0 5015619 D11S3114 CXorf62;FLJ33610;NCRNA00269;RP13-153N15.1 APPROVED ncrna ENSG00000215162 HGNC:26586 VALIDATED 3476775 LINC00268 long intergenic non-protein coding RNA 268 INTERACTS WITH atrazine 9 p11.2 973 1574 - 12477932 441426 AK126863;AL513478;BC136786;BC136790 AAI36787;AAI36791 Hs.740213 NCRNA00268;NCRNA00268A APPROVED ncrna HGNC:38543 18465 2303453 LINC00271 long intergenic non-protein coding RNA 271 ASSOCIATED WITH Lung Neoplasms (inferred) 6 6 6 q23.3 136559305 136752341 + 135818939 136011976 + 135497801 135690838 + 8554872 12477932;15169551;16344560;16773125;17473831;17668382;20452750;20580033;22610502 100131814 P0C7V0 ABBA01025837;ABBA01025838;ABBA01025839;ABBA01025840;AJ606314;AJ606326;AL035604;AL133544;AL512426;AMYH02014551;BC040979;BC127000;BC127001;EU130902;HG499673;NR_026805 P0C7V0 Hs.734007 1713529;1724643;1770636;1777798;1856998 AL021856;AL021857;G01852;RH120250;RH121322 C6orf217;NCRNA00271 APPROVED ncrna ENSG00000231028 HGNC:32526 PREDICTED 3207431 LINC00265-2P long intergenic non-protein coding RNA 265-2, pseudogene Y Y q11.23 26422134 26423514 + 24275987 24277367 + 100287296 AC012005;NG_004755 NCRNA00265-2P;NCRNA00265B APPROVED pseudo HGNC:38523 VALIDATED 5135341 LINC00266-4P long intergenic non-protein coding RNA 266-4, pseudogene Y Y q11.23 27524818 27537757 - 25378671 25391610 - 9847074 100642176 AC006328;NG_029404 NCRNA00266-4P;NCRNA00266D;NCRNA00266Y2 APPROVED pseudo HGNC:38800 INFERRED 1348961 LINC00266-1 long intergenic non-protein coding RNA 266-1 20 20 q13.33 62921738 62934707 + 64290385 64303354 + 12477932 140849 AL137028;BC118988;BC122537;LN608768;NR_040415 AAI18989;AAI22538 Hs.745565 C20orf69;NCRNA00266;NCRNA00266-1;bA476I15.3 APPROVED ncrna HGNC:16202 PREDICTED 4108279 LINC00272 long intergenic non-protein coding RNA 272 1 1 1 q25.3 155487842 155495038 + 182376756 182383948 + 182407621 182414813 + 12477932;12801632;16710414;19322201 388719 ABBA01027765;AF508909;AL139344;AMYH02002270;BC140780;CH471067;HG492992;NR_034131 AAI40781;EAW91124 Hs.508989 C1orf120;MGC176457;NCRNA00272;RP1-223H12.3 APPROVED ncrna ENSG00000203729 HGNC:26898 17987 VALIDATED 4107349 LINC00276 long intergenic non-protein coding RNA 276 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 p24.3 14368998 14541082 - 14228874 14400958 - 8554872 12477932;22041458 100499171 ABBA01015676;ABBA01015677;ABBA01015678;AC017088;AC064846;AMYH02003308;AMYH02003309;BC035112;HG493675;NR_103814 Hs.565606 AC064846.1;NCRNA00276 APPROVED ncrna ENSG00000230448 HGNC:38663 VALIDATED 6481431 LINC00278 long intergenic non-protein coding RNA 278 ASSOCIATED WITH Lung Neoplasms (inferred) Y Y 2871037 2970313 + 3002996 3102272 + 8554872 100873962 ABBA01069774;ABBA01069775;ABBA01069776;ABBA01069777;ABBA01069778;ABBA01069779;ABBA01069780;AC006032;AC006157;AW772613;BF195971;HG512622;NR_046502 Hs.267256 NCRNA00278;RP13-348B13.2 ncrna ENSG00000231535 HGNC:38712 VALIDATED 2303891 LINC00277 long intergenic non-protein coding RNA 277 INTERACTS WITH cadmium atom 15 15 15 q23 46262493 46277474 + 69365266 69388225 + 69080850 69095824 + 6480464 12477932;14702039;15489334 283673 AA843716;ABBA01038769;AC027088;AK091087;AK097560;AK292174;AMYH02030696;BC101594;BC101596;BX493526;CH471082;HG507158;HG507160;HG507162;HG507164;NR_026949 BAC03580;BAF84863;EAW77833;EAW77834;EAW77835 Hs.177927 1677596;1849164;2220646 D15S927;RH91981;UniSTS:486979 FLJ33768;MGC126643;MGC126645;NCRNA00277;TMEM84 APPROVED ncrna ENSG00000212766 HGNC:26596 08746 VALIDATED 6481428 LINC00279 long intergenic non-protein coding RNA 279 p11.2 100873963 AC064829;AI418589;BX094304;HG512822 Hs.161182;Hs.605012 NCRNA00279 ncrna HGNC:38724 2859135 LINC00268-2P long intergenic non-protein coding RNA 268-2, pseudogene Y Y q11.1 13326407 13327781 - 11170731 11172105 - 9847074 100288610 AC134878;NG_029034 NCRNA00268-2P;NCRNA00268B APPROVED pseudo HGNC:37771 INFERRED 6481427 LINC00280 long intergenic non-protein coding RNA 280 p11.2 100873964 AA431552;AC006335;HG512811;NR_046505 Hs.584731 NCRNA00280 ncrna HGNC:38803 VALIDATED 6481260 LINC00283 long intergenic non-protein coding RNA 283 100874057 AL157769 NCRNA00283 ncrna HGNC:38809 4144905 LINC00293 long intergenic non-protein coding RNA 293 8 8 8 q11.1 43736801 43751700 + 47752508 47767407 + 46840886 46855785 + 12477932;14702039;15676287 497634 ABBA01018439;AC021451;AK097475;AMYH02017931;BC041354;HG501134;HG501135;NR_027012;NR_027013 Hs.406982 NCRNA00293;RP11-101E19.6 BEYLA APPROVED ncrna ENSG00000253314 HGNC:39078 609543 PREDICTED 4144952 LINC00294 long intergenic non-protein coding RNA 294 11 11 11 p13 33244394 33247698 + 33097696 33101000 + 33076150 33079454 + 14702039 283267 ABBA01060898;AC131263;AK054565;AK091059;AMYH02024561;BC006446;BC046921;NR_015451 Hs.533701 1649103;1671173;5014051;5022578;5037552 D11S4385;D1S1423;D8S2278;D8S2279;G17571 NCRNA00294 APPROVED ncrna HGNC:27456 612296 VALIDATED 6481265 LINC00297 long intergenic non-protein coding RNA 297 13 13 30446750 30462542 - 29872613 29888405 - 20460270 100874059 ABBA01035707;AL139188;AMYH02027784;BQ677672;NR_046510 Hs.569261 NCRNA00297 ncrna ENSG00000224329 HGNC:39210 VALIDATED 4143809 LINC00290 long intergenic non-protein coding RNA 290 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 4 q34.3 179313655 179408676 - 181985242 182080302 - 181064089 181159149 - 8554872 11181995 728081 ABBA01070477;AC093699;AF088005;AMYH02010607;AMYH02010608;CH471056;HG497563;NR_033918 EAX04709 Hs.535735 1700386;1856208;2148298;2159208;2160179;2176471 B303XE1;D4S3191;G16214;RH103813;SHGC-14930;SHGC-50688 NCRNA00290;RP11-810C20.1 APPROVED ncrna ENSG00000248197 HGNC:38515 VALIDATED 4110051 LINC00282 long intergenic non-protein coding RNA 282 13 13 13 q14.3 33436122 33467903 - 52387483 52419286 - 51813347 51845150 - 14702039;16344560 283521 ABBA01051051;AK094626;AK124707;AL162377;AMYH02028038;DA339105;NR_027047;NR_027048 Hs.649896 1763429 SHGC-147141 FLJ37307;NCRNA00282 APPROVED ncrna HGNC:26737 PREDICTED 1348895 LINC00302 long intergenic non-protein coding RNA 302 q21.3 9344646 388699 O14635 AF005082 AAB83962;O14635 Hs.516420 C1orf46;NCRNA00302;xp33 APPROVED miscrna HGNC:31825 4106120 LINC00273 long intergenic non-protein coding RNA 273 16 16 16 p11.2 122509 123960 + 33961052 33962503 - 34158585 34160036 - 15353267 649159 Q6PQ33 ABBA01017804;ABBA01017805;AC136932;AMYH02031946;AY587847;NR_038368 AAS99556 Hs.532675 1793006;1793026 PMC18377P1;PMC18810P1 NCRNA00273;TOP APPROVED ncrna ENSG00000256642 HGNC:38595 VALIDATED 1601805 LINC00303 long intergenic non-protein coding RNA 303 1 1 1 q32.1 177136995 177145812 - 204001575 204010392 - 204032447 204041264 - 12477932;14702039;15489334 284573 Q3SY05 ABBA01027458;ABBA01027459;ABBA01027460;AC096645;AK097662;AMYH02002526;AMYH02002527;BC104010;BC104011;BC104012;CH471067;HG493097;HG493098;HG493099;NR_027902 AAI04011;AAI04012;AAI04013;BAC05136;EAW91498;Q3SY05 Hs.406979 C1orf157;FLJ40343;MGC120329;MGC120330;MGC120332;NCRNA00303 APPROVED ncrna ENSG00000176754 HGNC:26865 08279 VALIDATED 7371884 LINC00298 long intergenic non-protein coding RNA 298 2 2 2 p25.1 7974908 8029277 - 8062556 8119441 - 7922425 7976814 - 12477932 339788 ABBA01015553;AC007463;AC007464;AMYH02003233;BC043361;BC103700;BC104747;BC105688;BC107115;CH471053;HG493607;NR_015405 EAX01024 Hs.46864 AC007464.1 ncrna ENSG00000235665 HGNC:49257 VALIDATED 2303826 LINC00301 long intergenic non-protein coding RNA 301 FOUND IN integral component of membrane (inferred) 11 11 11 q12.2 57747506 57818862 + 60383224 60454622 + 60615751 60687149 + 12477932;15489334 283197 Q8NCQ3 ABBA01021511;ABBA01021512;ABBA01021513;AK058123;AMYH02024874;AMYH02024875;AP003399;AP004243;BC029583;BX103095;CH471076;HG503806;HG503807;HG503808;HG503809;NR_026946 ABM82418;ABM85609;EAW73894;EAW73895;EAW73896;Q8NCQ3 Hs.372650 AP004243.1;C11orf64;MGC39681;NCRNA00301 APPROVED ncrna ENSG00000181995 HGNC:28603 17544 VALIDATED 4109757 LINC00284 long intergenic non-protein coding RNA 284 13 13 13 q14.11 25652630 25660759 + 44596471 44604599 + 44022335 44030463 + 14702039 121838 ABBA01021237;AK001938;AK001941;AL646099;AMYH02027951;HG505568;HG505570;HG505573;LK938500;LK938501;NR_026955 Hs.201441 1721925 G59995 NCRNA00284;RP11-65B7.1 APPROVED ncrna HGNC:26981 PREDICTED 1605831 LINC00304 long intergenic non-protein coding RNA 304 INTERACTS WITH copper atom; copper(0); paracetamol 16 16 16 q24.3 74291250 74295695 + 89225628 89230083 + 89159220 89163675 + 6480464 14702039 283860 Q8N9R0 ABBA01014163;AC009113;AK094020;AMYH02032658;HG508497;NR_024347 BAC04270;Q8N9R0 Hs.739138 C16orf81;FLJ36701;NCRNA00304 APPROVED ncrna ENSG00000180422 HGNC:26713 08209 VALIDATED 4108295 LINC00299 long intergenic non-protein coding RNA 299 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 2 p25.1 8060235 8380838 - 8147901 8468549 - 8007771 8328419 - 8554872 12477932;14702039;22075330;23217328;23251661;23817569 339789 Q6ZSB3 ABBA01015553;ABBA01015554;ABBA01015555;AC007464;AC092177;AK127578;AMYH02003234;AMYH02003235;BC043563;HG493609;HG493611;KF456626;NR_034135;U91324 BAC87041;Q6ZSB3 Hs.565619 1335612;1341690;1696550;1722143;1753037;1765103;1775155;2162551;2169148;2174612;7187618 D2S2164;D2S249;D2S359;G60119;SHGC-13005;SHGC-148628;SHGC-60506;SHGC-77907;SHGC-78149;WI-16270 C2orf46;FLJ45673;NCRNA00299 APPROVED ncrna ENSG00000236790 HGNC:27940 14171 PREDICTED 5131738 LINC00307 long intergenic non-protein coding RNA 307 21 21 q22.11 31581469 31584101 - 30209151 30211783 - 12036297 266919 ABBA01057268;AMYH02037700;AP000884;AY063455;HG511719;NR_038855 Hs.561028 AP000884.4;D21S2091E;NCRNA00307 non-protein coding RNA 307 APPROVED ncrna ENSG00000227342 HGNC:16727 VALIDATED 1349398 LINC00308 long intergenic non-protein coding RNA 308 21 21 21 q21.1 8658040 8665104 + 23470936 23488847 + 22098617 22116528 + 12036298 54143 Q8TCZ7 ABBA01057169;AMYH02037610;AP000705;AP000951;AY077696;HG511640;NR_038400 AAL82536;Q8TCZ7 Hs.352631 C21orf74;NCRNA00308;PRED16 APPROVED ncrna ENSG00000184856 HGNC:16023 VALIDATED 5132831 LINC00309 long intergenic non-protein coding RNA 309 2 2 2 p15 64263468 64283871 - 64412212 64432619 - 64185078 64205485 - 150992 ABBA01075416;AC012368;AL137337;AMYH02003965;HG494051;NR_033837 Hs.272318 AC012368.2;DKFZp434G179;NCRNA00309 APPROVED ncrna ENSG00000230923 HGNC:25279 PREDICTED 1347210 LINC00312 long intergenic non-protein coding RNA 312 INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 3 3 3 p25.3 8550226 8552338 + 8613468 8616354 + 8571782 8574668 + 6480464 11780420;12452030;12477932;12918109;14702039;15474036;15489334;19591174;23529758;23602568;24168098;8889548 29931 Q9Y6C7 ABBA01020417;AC087859;AF086709;AK054898;AMYH02006221;AW269670;BC009773;BC016278;BM686558;BQ002364;CH471055;NR_024065 AAD45398;EAW63939;Q9Y6C7 Hs.433151 1669822;2163624 RH35965;SHGC-33743 ERR-10;ERR10;LMCD1DN;LOH3CR2A;NAG-7;NAG7;NCRNA00312 APPROVED ncrna HGNC:6662 17440 610485 VALIDATED 1345949 LINC00315 long intergenic non-protein coding RNA 315 21 21 q22.3 31830584 31831975 - 46723031 46724422 - 12036297;20494980 246704 P59091 AF427488;BX322557;NM_145179;XR_158954;XR_159366;XR_172354 AAM53527;P59091 Hs.171428 C21orf93;NCRNA00315 APPROVED ncrna HGNC:16621 10777 1353720 LINC00310 long intergenic non-protein coding RNA 310 INTERACTS WITH valproic acid 21 21 21 q22.11 20752539 20761781 + 35552978 35562220 + 34180677 34189919 + 6480464 11181995;12036297;12477932;14702039;15489334 114036 P59036 ABBA01057365;AF426258;AK092704;AMYH02037752;AP000316;BC093749;BC111996;CH471079;NR_027266;NR_027267 AAM53514;EAX09792;EAX09793;P59036 Hs.720230 1784478;5118278 D13S985;SHGC-170207 C21orf82;FLJ35385;MGC138201;NCRNA00310 APPROVED ncrna ENSG00000227456 HGNC:16414 VALIDATED 1350860 LINC00314 long intergenic non-protein coding RNA 314 21 21 21 q21.3 14568963 14578808 + 29385682 29395528 + 28013363 28023209 + 12036297;12477932;15489334 246705 ABBA01057233;AF427489;AJ006995;AMYH02037675;BC126226;BC126230;CB049373;CH471079;NR_027246 AAM53528;EAX09944 Hs.505079 C21orf94;NCRNA00314 APPROVED ncrna ENSG00000178457 HGNC:16622 10778 VALIDATED 1354271 LINC00316 long intergenic non-protein coding RNA 316 21 21 21 q22.3 31869206 31872668 - 46758505 46761905 - 45338590 45341990 - 11329013 388830 Q9NSH9 ABBA01074192;ABBA01074193;AL163302;AMYH02037930;BG221750;BG221754;BX322557;CH471079;NR_103811 CAB90481;EAX09347 Hs.592162 C21orf111;NCRNA00316;PRED59 APPROVED ncrna ENSG00000237664 HGNC:19723 VALIDATED 1350003 LINC00305 long intergenic non-protein coding RNA 305 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; cytarabine; valproic acid 18 18 18 q22.1 58467337 58536365 - 61747243 61816260 - 64080009 64149026 - 737633;6480464;8554872 12477932 15489334;18851979 221241 Q7Z4B0 ABBA01056231;AC021607;AMYH02034889;AY336744;BC029565;CH471096;HG510095;KF456426;KF456429;NR_027245 AAQ16114;ABW03412;ABW03742;EAW63167;Q7Z4B0 Hs.567778 1662329;1695816;1714913;1730523;1813120;1813346;1815254;1815562;1816490;1823200;1823448;1823698;1823772;1825380;1827506;1836938;1883714;1883716;1883718;1883720;1883722;1883724;1883726;1883728;1883730;1883732;1883734;1883736;1883738;1883740;1883742;1883744;1883746;1883748;1883750;1883752;1883754;1883756;1883758;1883760;1883762;1883764;1883766;1883768;1883770;1883772;1883774;1883776;1883778;1883780;1883782;1883784;1883786;1883788;1883790;1883792;1883794;1883796;1883798;1883800;1883802;1883804;1883806;1883808;1883810;1883812;1883814;1883816;1883818;1883820;1883822;1883824;1883826;1883828;1883830;1883832;1883834;1883836;1883838;1883840;1883842;1883844;1883846;2200496;2200498;2200500;2200502;2200504;2200506;2200508;2200510;2200512;2200514;2200516 D18S1037;D18S81;ECD07579;ECD07694;ECD08662;ECD08817;ECD09287;ECD12689;ECD12815;ECD12941;ECD12978;ECD13796;ECD14869;ECD19633;REN12550;REN12551;REN12552;REN12553;REN12554;REN12555;REN12556;REN12557;REN12558;REN12559;REN12560;REN12561;REN12562;REN12563;REN12564;REN12565;REN12566;REN12567;REN12568;REN12569;REN12570;REN12571;REN12572;REN12573;REN12574;REN12575;REN12576;REN12577;REN12578;REN12579;REN12580;REN12581;REN12582;REN12583;REN12584;REN12585;REN12586;REN12587;REN12588;REN12589;REN12590;REN12591;REN12592;REN12593;REN12594;REN12595;REN12596;REN12597;REN12598;REN12599;REN12600;REN12601;REN12602;REN12603;REN12604;REN12605;REN12606;REN12607;REN12608;REN12609;REN12610;REN12611;REN12612;REN12613;REN12614;REN12615;REN12616;RH120451;SHGC-82575;stSG619652;stSG619653;stSG619654;stSG619655;stSG619656;stSG619657;stSG619658;stSG619659;stSG619660;stSG619661;stSG619662 C18orf20;HsT1235;MGC39571;NCRNA00305 APPROVED ncrna ENSG00000179676 HGNC:28597 16624 PREDICTED 1348308 LINC00313 long intergenic non-protein coding RNA 313 INTERACTS WITH diazinon 21 21 21 q22.3 29988222 30004630 - 44881974 44898103 - 43462094 43478223 - 12036297;12477932;15489334 114038 P59037 AF426261;AMYH02037896;AP001048;AP001049;BC107109;CH471079;HG511873;LN608790;NR_026863 AAM53517;EAX09488;EAX09489;EAX09490;EAX09491;EAX09492;P59037 Hs.592161 1682233 RH98398 C21orf84;CH507-42P11.5;MGC129789;NCRNA00313 APPROVED ncrna ENSG00000185186 HGNC:16416 10770 PREDICTED 1603251 LINC00323 long intergenic non-protein coding RNA 323 21 21 21 q22.2 27711607 27718170 - 42513427 42524877 - 41141500 41148064 - 14702039 284835 ABBA01044666;AK094492;AL773572;AMYH02037855;HG511833;NR_024100 Hs.106234 1689935 RH80933 C21orf130;FLJ37173;NCRNA00323;PRED42 APPROVED ncrna ENSG00000226496 HGNC:19720 PREDICTED 1345223 LINC00319 long intergenic non-protein coding RNA 319 INTERACTS WITH dioxygen 21 21 21 q22.3 29976153 29980022 + 44869904 44873773 + 43450024 43453893 + 6480464 12477932;14702039;20494980 284836 AK095355;AK128444;AP001047;AW294163;BC128187;BC128188;HG511871;NR_026960 BAC87443 Hs.146127 2220592 UniSTS:485691 C21orf125;FLJ38036;NCRNA00319;PRED49 APPROVED ncrna ENSG00000188660 HGNC:19730 10738 PREDICTED 1344191 LINC00320 long intergenic non-protein coding RNA 320 21 21 21 q21.1 7286014 7346511 - 22114863 22175569 - 20742590 20803108 - 12477932;14702039 387486 ABBA01057157;ABBA01057158;AK094858;AMYH02037593;AP000957;BC042856;BC044727;BC047405;BC064598;BX537735;HG511625;HG511626;HG511627;HG511628;HG511629;NR_024090;NR_109786;NR_109787;NR_109788 Hs.576551 1760279;2138436;2157069 SHGC-132806;SHGC-52096;STS-N40204 C21orf131;DKFZp686B23275;FLJ37539;NCRNA00320;PRED14 APPROVED ncrna ENSG00000224924 HGNC:19690 VALIDATED 2303883 LINC00324 long intergenic non-protein coding RNA 324 INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; aflatoxin B1 17 17 17 p13.1 8152389 8155805 - 8123948 8127361 - 8220630 8224043 - 6480464 12477932;14702039;15489334 284029 ABBA01054904;AC135178;AK092109;AMYH02032923;BC063002;BC089396;BC113564;HG508639;NR_026951 BAC03808 Hs.121692 1698314 RH102697 C17orf44;FLJ34790;MGC104931;NCRNA00324 APPROVED ncrna ENSG00000178977 HGNC:26628 08755 VALIDATED 1604176 LINC00326 long intergenic non-protein coding RNA 326 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 6 6 6 q23.2 134150296 134168794 + 133409219 133427717 + 133088080 133106578 + 6480464 12477932 285735 ABBA01025874;AL591115;AMYH02014509;BC039371;BC101702;BC101704;BI460768;CH471051;HG499639;HG499640;NR_026969 EAW48007 Hs.407549 MGC126751;MGC126753;NCRNA00326;RP11-314E23.1 APPROVED ncrna HGNC:41926 18776 PREDICTED 6480992 LINC00328-2P long intergenic non-protein coding RNA 328-2, pseudogene 13 13 19383970 19384188 + 18809830 18810048 + 100874404 ABBA01068537;AC245149;AL391382;NG_032649 NCRNA00328-2P;NCRNA00328B pseudo HGNC:42027 INFERRED 5133120 LINC00327 long intergenic non-protein coding RNA 327 INTERACTS WITH valproic acid 13 13 13 5106652 5124272 + 24043651 24061603 + 23469512 23487464 + 6480464 22493691 100506697 ABBA01007878;AL354815;AL833146;AMYH02027693;BX098743;HG505461;NR_038995 Hs.50118 1693824;1698770;5015619;5017170;5037552 D11S3114;D8S2279;L29953;RH102948;SHGC-56695 NCRNA00327 APPROVED ncrna ENSG00000232977 HGNC:42009 VALIDATED 7246189 LINC00322 long intergenic non-protein coding RNA 322 21 21 21 q22.3 29854326 29858106 - 44742089 44751919 - 43322209 43332039 - 14702039;17081983;8889548 100126693 Q6ZN03 ABBA01074121;AK131425;AMYH02037895;AP001046;BM691132;HG511867;KC877906;NR_103713 BAD18572;Q6ZN03 Hs.473952 AP001046.4;C21orf136;NCRNA00322 ncrna HGNC:33698 VALIDATED 6481214 LINC00329 long intergenic non-protein coding RNA 329 100874125 AL355595 miscrna HGNC:42038 6481212 LINC00332 long intergenic non-protein coding RNA 332 13 13 40755946 40763167 + 40181809 40189030 + 100874127 ABBA01021302;AL356217;AMYH02027903;BE789257;HG505556;NR_046870 Hs.578028 NCRNA00332;RP11-518D7.1 ncrna ENSG00000230710 HGNC:42049 VALIDATED 6481213 LINC00331 long intergenic non-protein coding RNA 331 13 13 79361454 79398991 - 78787319 78824856 - 23382691 100874126 AA393556;ABBA01021683;AL354869;AMYH02028335;HG505771;HY012880;NR_046869 Hs.577893 NCRNA00331;RP11-600P1.2 ncrna HGNC:42048 VALIDATED 1602153 LINC00336 long intergenic non-protein coding RNA 336 INTERACTS WITH cadmium atom 6 6 6 p21.31 35108262 35115494 - 33553883 33561115 - 33586106 33593338 - 6480464 19851445 401253 Q6ZUF6 ABBA01038158;AK125740;AMYH02013493;NR_027908;Z93017 BAC86269;Q6ZUF6 Hs.520075 1339434;7186216 D6S1560 C6orf227;FLJ43752;NCRNA00336 APPROVED ncrna ENSG00000197251 HGNC:33813 16966 VALIDATED 5133574 LINC00311 long intergenic non-protein coding RNA 311 16 16 16 q24.1 69621629 69622458 + 85316564 85321688 + 85282958 85288082 + 12477932;15489334;21988832 197196 Q8N616 ABBA01016882;AC092275;AMYH02032580;BC030801;CH471114;HG508405;NR_038859 AAH30801;EAW95454;Q8N616 Hs.679002 5020274;5037552 D8S2279;L18441 MGC22001;NCRNA00311;TMEM148 APPROVED ncrna HGNC:28312 14484 PREDICTED 1345302 LINC00317 long intergenic non-protein coding RNA 317 21 21 q21.1 23095613 23109639 - 21723293 21737319 - 12477932 378828 ABBA01057163;AF241725;AMYH02037605;BC009878;BF026848;HG511633;NR_038872 Hs.551009 C21orf117;NCRNA00317;PRED89 APPROVED ncrna ENSG00000238265 HGNC:23126 VALIDATED 7246542 LINC00337 long intergenic non-protein coding RNA 337 1 1 1 p36.31 5412370 5414006 + 6296300 6299504 + 6236240 6239444 + 12477932;15489334 148645 Q8N6G1 ABBA01035439;ABBA01035440;AL031847;AMYH02000169;BC030279;BE546866;CH471130;HG491650;HG491651;NR_103534 AAH30279;EAW71524;Q8N6G1 Hs.185688 2132284;5022651 D11S2921;G21080 C1orf211;NCRNA00337 ncrna HGNC:28620 17550 VALIDATED 5687482 LINC00330 long intergenic non-protein coding RNA 330 13 13 13 q14.11 26429737 26439860 - 45373640 45383766 - 44799504 44809630 - 14702039 144817 ABBA01021226;AK056732;AL136966;AMYH02027960;HG505582;NR_038433 Hs.585616 5016478 GDB:434012 NCRNA00330;RP11-96M12.1 ncrna ENSG00000235097 HGNC:42047 PREDICTED 1353573 LINC00341 long intergenic non-protein coding RNA 341 INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; benzo[a]pyrene 14 14 14 q32.13 75929305 75932128 - 95873603 95876427 - 95407266 95410090 - 6480464 12477932;14702039;15489334;16169070;21832049 79686 Q9H761 ABBA01048604;AK024929;AL138539;AMYH02029797;BC008299;CH471061;CR457337;NR_026779 BAB15037;CAG33618;EAW81600;Q9H761 Hs.41502 1666910;1852029 AFMa301ze1;RH44999 C14orf139;FLJ21276;NCRNA00341 APPROVED ncrna HGNC:20353 16606 VALIDATED 6481219 LINC00344 long intergenic non-protein coding RNA 344 13 q33.2 105730419 105731715 + 100874133 ABBA01027055;AI674044;AL159982;AMYH02028658;XR_424465;XR_429276;XR_432945 Hs.567700 NCRNA00344 ncrna HGNC:42501 MODEL 6481218 LINC00333 long intergenic non-protein coding RNA 333 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 84714737 85137371 + 84140602 84563236 + 8554872 21347282;22365631 100874128 ABBA01021745;ABBA01021746;ABBA01021747;AL162493;AL162494;AL445195;AL445604;AL603627;AMYH02028388;AMYH02028389;AMYH02028390;AMYH02028391;AMYH02028392;BI821261;HG505783;KF455799;NR_046871 Hs.578060 NCRNA00333;RP11-427O13.3 ncrna HGNC:42050 VALIDATED 6481220 LINC00345 long intergenic non-protein coding RNA 345 q14.3 100874134 AL137058 ncrna HGNC:42503 2307246 LINC00346 long intergenic non-protein coding RNA 346 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1 13 13 13 q34 92362548 92368867 - 111516334 111522655 - 110863987 110870308 - 6480464;8554872 12477932;15489334 283487 Q8IVM7 ABBA01026990;AJ295981;AK307956;AL157875;AL831965;AMYH02028714;BC093904;BC104998;BX647632;NR_027701 AAH93904;AAI04999;CAC82494;Q8IVM7 Hs.245390 1740089;2160554;2169389;5015959;5037554;5493143 D10S2448;D13S1221;D13S852E;D8S2282;SHGC-30457;UniSTS:484433 C13orf29;FLJ97904;NCRNA00346 APPROVED ncrna ENSG00000255874 HGNC:27492 14144 VALIDATED 6483997 LINC00348 long intergenic non-protein coding RNA 348 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 q21.33 71717315 71742549 + 71143183 71168417 + 8554872 100885781 AA431807;ABBA01050324;AI480312;AL139001;AL139803;AMYH02028232;HG505720;NR_047699 Hs.372660 RP11-77P3.1 ncrna ENSG00000226846 HGNC:42658 VALIDATED 6481223 LINC00349 long intergenic non-protein coding RNA 349 q11 100874135 AL138715 ncrna HGNC:42667 5133562 LINC00339 long intergenic non-protein coding RNA 339 INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; paracetamol 1 1 1 p36.12 20674703 20680702 + 22351707 22357716 + 22025191 22031224 + 6480464 11042152;12477932 29092 Q9P007 ABBA01059840;AF161506;AL031281;AMYH02000466;BC016053;BC040947;BC056896;BC071749;BG432520;BX509008;CA489192;H87321;HG491766;HG491767;NR_023918;NR_023919;NR_109759;NR_109760;NR_109761;NR_109762 AAF29121 Hs.279842 5024250 SHGC-74351 HSPC157;NCRNA00339;RP1-224A6.4 APPROVED ncrna ENSG00000218510 HGNC:25011 VALIDATED 6481221 LINC00350 long intergenic non-protein coding RNA 350 q12.11 100874136 AL359457 ncrna HGNC:42668 6481226 LINC00352 long intergenic non-protein coding RNA 352 q12.12 100874138 AL354815 ncrna HGNC:42670 6481227 LINC00351 long intergenic non-protein coding RNA 351 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 85937738 86118797 + 85363603 85544662 + 8554872 24529757 100874137 ABBA01012305;AL353623;AL355580;AMYH02028396;AMYH02028397;BM559680;HG505785;KF455808;NR_046989 Hs.742643 RP11-76K10.1 ncrna ENSG00000226317 HGNC:42669 VALIDATED 5488137 LINC00342 long intergenic non-protein coding RNA 342 INTERACTS WITH methylmercury chloride; valproic acid 2 2 q11.2 96472800 96492729 - 95807052 95826981 - 6480464 12477932;14702039 150759 ABBA01030072;AC008268;AK057592;AK057596;AK093195;AL832439;AMYH02004320;BC117383;BC126153;NR_103734 Hs.503463 NCRNA00342 ncrna HGNC:42470 VALIDATED 6481225 LINC00353 long intergenic non-protein coding RNA 353 13 13 90201048 90216667 - 89548794 89564413 - 11329013 100874139 ABBA01027257;AL583783;AMYH02028446;BG193334;HG505807;NR_046991 Hs.742173 RP11-75N6.2 ncrna HGNC:42671 VALIDATED 6481228 LINC00354 long intergenic non-protein coding RNA 354 13 13 q34 112547733 112555253 + 111893379 111900939 + 8889548 101928616 ABBA01019833;AL136302;AMYH02028723;BC032817;BQ186748;BX117816;DB457517;HG505891;HY022991;NR_046992;NR_120401;XR_245843;XR_247967;XR_253215 Hs.528450 ncrna HGNC:42672 VALIDATED 6481231 LINC00357 long intergenic non-protein coding RNA 357 100874142 AL354798 miscrna HGNC:42677 6481229 LINC00356 long intergenic non-protein coding RNA 356 100874141 AL589745 miscrna HGNC:42675 6484000 LINC00359 long intergenic non-protein coding RNA 359 13 13 q 97593535 97636426 - 96941281 96984172 - 16344560 100887754 ABBA01027167;AL353581;AMYH02028541;DA939673;HG505829;NR_051966 Hs.617003 ncrna HGNC:42679 VALIDATED 6481234 LINC00362 long intergenic non-protein coding RNA 362 q12.12 100874144 AL356287;BX107685 Hs.128068 ncrna HGNC:42682 5488551 LINC00347 long intergenic non-protein coding RNA 347 13 13 13 q21.33 56025326 56029594 + 75126980 75131257 + 74552843 74557120 + 12477932;22359512 338864 ABBA01050361;AL157814;AMYH02028272;BC043259;HG505726;HG505728;HG505730;NR_034024;NR_034025 Hs.97408 RP11-285E18.1 ncrna ENSG00000236678 HGNC:27890 VALIDATED 6481233 LINC00364 long intergenic non-protein coding RNA 364 q21.32 11329013 100874145 AL391374;BG210290;BG221194 Hs.508194 uncharacterized protein LOC100874145 ncrna HGNC:42686 6481235 LINC00365 long intergenic non-protein coding RNA 365 q12.3 100874146 AL354674;BX383554 ncrna HGNC:42687 7249871 LINC00367 long intergenic non-protein coding RNA 367 13 q12.11 20938564 20949428 - 101930748 ABBA01068594;AL356285;AMYH02027649;AMYH02027650;BG723634;NR_104058 Hs.637638 ncrna ENSG00000233780 HGNC:42689 VALIDATED 6481232 LINC00366 long intergenic non-protein coding RNA 366 13 13 39141861 39153653 + 38567724 38579516 + 100874147 ABBA01021324;AC017111;AL441986;AMYH02027892;BX643138;NR_046999 Hs.555371 DKFZp781N1822 ncrna HGNC:42688 VALIDATED 5688622 LINC00343 long intergenic non-protein coding RNA 343 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 q33.2 106359179 106414143 + 105730419 105731715 + 8554872 12477932 144920 ABBA01027054;ABBA01027055;ABBA01027056;AI026672;AI674044;AK058053;AL159982;AL359745;AMYH02028657;AMYH02028658;BC126908;BC127249;CD244335;DB514862;HY035387;HY220351;NR_046391;NR_120418;XR_424465;XR_429276;XR_432945 Hs.567700 LINC00344;NCRNA00343;NCRNA00344 ncrna HGNC:42500 VALIDATED 7242868 LINC00371 long intergenic non-protein coding RNA 371 13 13 13 q14.3 32707440 32735212 - 51658151 51687364 - 51084015 51113228 - 23382691 647166 ABBA01051044;ABBA01051045;AL040612;AL040615;AL157817;AL160157;AL583782;AMYH02028029;BX096556;CX751673;DR156254;DV080333;HG505642;HG505643;HG505644;NR_102431;NR_102432 Hs.195052;Hs.539702 1335982;1706460;7186920 D13S284;SHGC-81115 LINC00372;RP11-547C18.3 ncrna HGNC:42693 VALIDATED 6481242 LINC00372 long intergenic non-protein coding RNA 372 100874148 AL160157 miscrna HGNC:42694 8698722 LINC00377 long intergenic non-protein coding RNA 377 q31.1 11329013 103724386 AI039503;BX119215;NR_125770 Hs.539622 TCONS_00021861 ncrna HGNC:42703 VALIDATED 7254050 LINC00380 long intergenic non-protein coding RNA 380 13 q31.3 91087254 91091439 - 101930747 AA609658;ABBA01027237;AL157878;AMYH02028470;BX097335;HG505812;NR_104057 Hs.112745 RP11-51B13.1 ncrna HGNC:42706 VALIDATED 6481240 LINC00379 long intergenic non-protein coding RNA 379 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 91779867 91863952 - 91127613 91211698 - 8554872 100874150 ABBA01027237;AI863608;AL157878;AL353734;AMYH02028470;CD387405;HG505813;NR_047004 Hs.711947 RP11-51B13.2 ncrna HGNC:42705 VALIDATED 6481236 LINC00381 long intergenic non-protein coding RNA 381 13 13 q22.1 74993310 75009296 + 74419173 74435159 + 11181995;22610502 100874151 AA397742;AA421131;ABBA01050359;ABBA01050360;AL355390;AMYH02028270;CH471093;HG505725;NR_047005 EAW80534 Hs.564552;Hs.743188 RP11-512C24.2 ncrna ENSG00000226240 HGNC:42708 VALIDATED 6481230 LINC00358 long intergenic non-protein coding RNA 358 13 13 q21.31 62577658 62603681 - 62003525 62029548 - 12477932 100874143 ABBA01050243;AL445219;AMYH02028150;AMYH02028151;AMYH02028152;BC037867;NR_046995 Hs.552684 ncrna ENSG00000229578 HGNC:42678 VALIDATED 8699002 LINC00383 long intergenic non-protein coding RNA 383 ASSOCIATED WITH Lung Neoplasms (inferred) q21.33 8554872 103689913 AL355478;AL356111;BG527271;BM557184;NR_125752 Hs.585628 ncrna HGNC:42710 VALIDATED 8548002 LINC00368 long intergenic non-protein coding RNA 368 13 13 q34 111748185 111758249 + 111095838 111105902 + 12477932 101927802 ABBA01026989;AL353704;AMYH02028715;BC040271;HG505885;NR_120415;XR_243075;XR_247941;XR_253213 Hs.559193 RP11-551M15.1 ncrna HGNC:42690 VALIDATED 6481237 LINC00387 long intergenic non-protein coding RNA 387 q11 100874152 AL359737 ncrna HGNC:42715 6481238 LINC00388 long intergenic non-protein coding RNA 388 q11 100874153 AL359737 ncrna HGNC:42716 6481239 LINC00391 long intergenic non-protein coding RNA 391 q32.1 100874154 AL137061 ncrna HGNC:42719 6481243 LINC00392 long intergenic non-protein coding RNA 392 q22.1 100874155 AL160032;AW592202;NR_047009 Hs.672679 ncrna HGNC:42720 VALIDATED 6481248 LINC00393 long intergenic non-protein coding RNA 393 q22.1 100874156 AL160032 ncrna HGNC:42721 6481241 LINC00378 long intergenic non-protein coding RNA 378 13 13 q21.2 61251966 61264998 + 60672955 60695806 + 101926930 ABBA01050216;AI024366;AL161901;AMYH02028139;AW105167;HG505692;KF455788;NR_047003 Hs.578045 RP11-521H3.1 ncrna HGNC:42704 VALIDATED 8548029 LINC00382 long intergenic non-protein coding RNA 382 13 13 q31.1 80446721 80492171 + 79872586 79918036 + 12477932 101927195 ABBA01021695;AL512623;AMYH02028345;BC036310;BG717866;HG505779;NR_120413;XR_245448;XR_247937;XR_253188;XR_424457;XR_424458;XR_429263;XR_429264;XR_432932;XR_432933 Hs.342412 RP11-501G7.1;TCONS_00021500 ncrna ENSG00000229175 HGNC:42709 VALIDATED 6481250 LINC00395 long intergenic non-protein coding RNA 395 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 q21.31 64241815 64312151 - 63667682 63738018 - 8554872 100874157 ABBA01050253;AI352571;AL445989;AMYH02028167;AW592306;BE044201;HG505703;NR_047011 Hs.539670;Hs.735640 RP11-473M10.2 ncrna ENSG00000231061 HGNC:42723 VALIDATED 7363090 LINC00384 long intergenic non-protein coding RNA 384 13 q12.3 30151886 30159621 - 102157400 ABBA01035707;AL157770;AMYH02027789;BX648491;XR_424439;XR_429230;XR_432912 Hs.639879 ncrna ENSG00000232117 HGNC:42711 MODEL 6481246 LINC00400 long intergenic non-protein coding RNA 400 ASSOCIATED WITH Lung Neoplasms (inferred) q14.11 8554872 100874159 AL138709;AL445217;AV711458;NR_047013 Hs.633241 ncrna HGNC:42729 VALIDATED 5488928 LINC00403 long intergenic non-protein coding RNA 403 13 13 q34 112760736 112762329 + 112106129 112108015 + 14702039;8889548 100505996 ABBA01019841;AI693652;AK055145;AK091058;AL138691;AL356961;AMYH02028726;BQ184460;DA195709;NR_120392;NR_120394;XR_110304;XR_133036;XR_172024;XR_247966;XR_424472 Hs.654853;Hs.734713 1752261 SHGC-106134 ncrna HGNC:42733 VALIDATED 6481245 LINC00404 long intergenic non-protein coding RNA 404 q34 100874160 AL356961 ncrna HGNC:42734 6481247 LINC00411 long intergenic non-protein coding RNA 411 q32.3 100874161 AA846322;AI183969;AL139374;NR_047015 Hs.143791 ncrna HGNC:42744 VALIDATED 7255965 LINC00397 long intergenic non-protein coding RNA 397 13 q31.2 87801043 87810520 - 101930749 ABBA01027271;AL445647;AMYH02028425;BX097373;HG505796;NR_104059 Hs.539610 RP11-471M2.2 ncrna ENSG00000223404 HGNC:42725 VALIDATED 5488833 LINC00402 long intergenic non-protein coding RNA 402 13 74805581 74834113 + 100507612 XR_110128;XR_172009 Hs.447508 1336658;1780296;7186328 D13S269;G67101 ncrna HGNC:42732 6481249 LINC00413 long intergenic non-protein coding RNA 413 100874162 AL450447 miscrna HGNC:42746 6481244 LINC00398 long intergenic non-protein coding RNA 398 13 13 31377343 31384782 + 30803206 30810645 + 16344560 100874158 ABBA01035689;AL512642;AMYH02027801;DB005052;NR_047012 Hs.577982 ncrna ENSG00000237879 HGNC:42727 PREDICTED 6481251 LINC00415 long intergenic non-protein coding RNA 415 q12.13 100874163 AL139004 ncrna HGNC:42748 6481257 LINC00417 long intergenic non-protein coding RNA 417 13 13 q11 19312240 19314239 - 18738100 18740099 - 16344560 100874164 ABBA01068530;AC245149;AL391382;DB339619;NR_047508 Hs.739604 5112333 RH103540 ncrna VALIDATED 6481258 LINC00419 long intergenic non-protein coding RNA 419 100874165 AL391382 miscrna HGNC:42753 6481252 LINC00420 long intergenic non-protein coding RNA 420 100874166 AL356259;BC017420;BG527679 miscrna HGNC:42754 5488937 LINC00422 long intergenic non-protein coding RNA 422 13 21899764 21922860 - 100505610 XR_110134;XR_111366 miscrna HGNC:42757 5488185 LINC00421 long intergenic non-protein coding RNA 421 13 13 13 q12.11 981044 982744 + 19919189 19920889 + 19345049 19346749 + 12477932 100287114 ABBA01068554;AL356259;AMYH02027613;BC022083;CH471075;NR_034026 EAX08215 Hs.375063 ncrna ENSG00000236834 HGNC:42755 VALIDATED 8655827 LINC00412 long intergenic non-protein coding RNA 412 13 q12.2 27236182 27250648 - 102723332 AI051530;AL159977;BX108969;HG505479;NR_120429;XR_429228 Hs.133166 ncrna HGNC:42745 VALIDATED 6481254 LINC00423 long intergenic non-protein coding RNA 423 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 33383328 33485790 - 32809190 32911652 - 8554872 12477932;21116278 100874167 ABBA01010150;ABBA01010151;ABBA01010152;AL138820;AMYH02027830;AMYH02027831;BC024029;HG505533;KF455755;NR_047020 Hs.406290 RP11-380B4.2 ncrna HGNC:42758 VALIDATED 7248624 LINC00408 long intergenic non-protein coding RNA 408 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 q11 19479579 19500881 + 18905439 18926741 + 8554872 12477932 100652856 ABBA01068540;ABBA01068541;ABBA01068542;AC245087;AC245149;AL355516;BC035261;HG505432;NR_104118 Hs.549878 RP11-442J17.2 ncrna HGNC:42740 VALIDATED 6481138 LINC00424 long intergenic non-protein coding RNA 424 13 13 22446935 22452299 - 21872796 21878160 - 14702039;16344560 100874182 ABBA01068613;AK057351;AL139034;AMYH02027668;BX092749;DB335972;NR_047040 Hs.148951;Hs.737034 FLJ32789 ncrna ENSG00000226722 HGNC:42815 VALIDATED 5488860 LINC00427 long intergenic non-protein coding RNA 427 13 13 11960038 11963580 - 30890497 30894040 - 100507040 XR_110111;XR_111373;XR_171998 1823068;1825070;1825680;1830948;1831882;1832034;1833484;1842406;1861802;1861804;1861806;1861808;1861810;1861812;1861814;1861816;1861818;1861820;1861822;1861824;1861826;1861828;1861830;1861832;1861834;1861836;1861838;1861840;1861842;1861844;1861846 ECD12622;ECD13636;ECD13948;ECD16610;ECD17079;ECD17155;ECD17885;ECD22406;REN1559;REN1560;REN1561;REN1562;REN1563;REN1564;REN1565;REN1566;REN1567;REN1568;REN1569;REN1570;REN1571;REN1572;REN1573;REN1574;REN1575;REN1576;REN1577;REN1578;REN1579;REN1580;REN1581 ncrna HGNC:42762 6481253 LINC00433 long intergenic non-protein coding RNA 433 13 13 89193084 89197764 + 88540829 88545509 + 100874168 ABBA01027264;AL445984;AMYH02028435;AW664738;AW664858;BI520070;NR_047021 Hs.126406 ncrna HGNC:42768 VALIDATED 6481256 LINC00438 long intergenic non-protein coding RNA 438 100874170 AL360267 miscrna HGNC:42775 6481255 LINC00434 long intergenic non-protein coding RNA 434 q21.2 11329013 100874169 AI521184;AL359920;BG221120 Hs.615544;Hs.736761 ncrna HGNC:42769 6481191 LINC00440 long intergenic non-protein coding RNA 440 q31.2 11329013 100874172 AL354997;BG209582 Hs.569291 ncrna HGNC:42777 6481193 LINC00439 long intergenic non-protein coding RNA 439 13 78513393 78549674 - 100874171 ABBA01021669;AL139002;AMYH01005225;BG436360;BM557607;NR_047024 Hs.743195 miscrna HGNC:42776 VALIDATED 5688842 LINC00441 long intergenic non-protein coding RNA 441 13 13 q14.2 48870649 48877797 - 48296513 48303661 - 12477932 100862704 AA804643;ABBA01051004;AL392048;AMYH02028001;AMYH02028002;BC039553;HG505630;NR_046414 Hs.374221 RP11-305D15.2 ncrna ENSG00000231473 HGNC:42778 VALIDATED 5488501 LINC00442 long intergenic non-protein coding RNA 442 13 13 13 q12.11 644247 648622 + 19582399 19586774 + 19008259 19012634 + 12477932 348021 ABBA01068543;AC245087;AK301801;AL137001;BC047425;BC067875;BC094789;HG505434;NR_026852 BAH13557 Hs.314114 RP11-301J16.5 ncrna ENSG00000232685 HGNC:42779 VALIDATED 6481195 LINC00443 long intergenic non-protein coding RNA 443 13 13 107306228 107324528 + 106653880 106672180 + 11329013;16344560 100874173 ABBA01027046;AL442127;AMYH02028666;BG205531;BX117718;DB312066;HG505871;NR_047026 Hs.569297 ncrna ENSG00000230156 HGNC:42780 VALIDATED 6481196 LINC00444 long intergenic non-protein coding RNA 444 q14.2 100874174 AA758995;AL138962 Hs.733716 ncrna HGNC:42781 5687509 LINC00445 long intergenic non-protein coding RNA 445 13 13 13 17338534 17340026 + 36271693 36273138 + 35697556 35699001 + 100507114 ABBA01010170;AL139083;AMYH02027858;XR_110115;XR_111378;XR_172001;XR_245415;XR_245416;XR_247905;XR_247906;XR_253156;XR_253157 ncrna ENSG00000236036 HGNC:42782 MODEL 6481198 LINC00446 long intergenic non-protein coding RNA 446 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 78587018 78627730 + 78012883 78053595 + 8554872 100874175 AA906842;ABBA01021672;AL162852;AMYH02028324;BX109374;HG505767;HG505768;NR_047028 Hs.130364 RP11-267I18.1 ncrna HGNC:42783 VALIDATED 6481135 LINC00448 long intergenic non-protein coding RNA 448 ASSOCIATED WITH Lung Neoplasms (inferred) q21.31 8554872 100874176 AA634411;AA971462;AL355853;AL445668;AL606808;BU569948;CR741874;NR_047029;NR_120403;NR_120404 Hs.402083 ncrna HGNC:42785 VALIDATED 6484484 LINC00452 long intergenic non-protein coding RNA 452 13 13 13 q34 95332160 95371392 + 114586610 114626485 + 113883637 113923512 + 12477932;22491018 643365 Q6ZU18 ABBA01015945;AK126042;AMYH02028749;BC034570;BC068105;BX072579;HG505920;HG505921;NM_001278674;XR_246655 BAC86409;NP_001265603 Hs.740982 FLJ44054;RP11-199F6.8 uncharacterized protein LOC643365 protein-coding HGNC:42800 VALIDATED 6481132 LINC00453 long intergenic non-protein coding RNA 453 q34 100874177 AA723779;AI201233;AI393115;BX072579;BX111115 Hs.127655 ncrna HGNC:42801 8695233 LINC00456 long intergenic non-protein coding RNA 456 q32.1 103625683 AL359925;BG623605;NR_125725 Hs.679591 ncrna HGNC:42804 VALIDATED 6481134 LINC00454 long intergenic non-protein coding RNA 454 13 13 114581641 114586488 - 113878668 113883515 - 100874178 ABBA01015945;AMYH02028749;BI829679;BX072579;HG505912;HG505916;XR_246656;XR_247972;XR_253221 Hs.547957 RP11-199F6.5 ncrna ENSG00000226921 HGNC:42802 MODEL 6481139 LINC00459 long intergenic non-protein coding RNA 459 q21.31 7757816 100874180 AL160151;BX113955;R46019;T24087;Z39313 Hs.7415 2143402 Cda17a11 ncrna HGNC:42808 5488991 LINC00426 long intergenic non-protein coding RNA 426 13 13 13 q12.3 11983953 12017592 - 30914407 30948036 - 30340270 30373899 - 24315451 100188949 ABBA01035702;AL356750;AMYH02027792;BQ420287;BX443263;HG505499;HG505500;HG505501;HG505502;HG505505;KF455753;NR_024464;XR_424438;XR_429231;XR_432913 Hs.439791 1775773;1802378;1803574;1805124;1805796;1809092;1811548;1812036;1814636;1814932;1817406;1818004;1821274;1822914;1825286;1826604;1826606;1827910;1830392;1830750;1830950;1832174;1832820;1833382;1833600;1834644;1836010;1836594;1836934;1839220;1839468;1840964;1841210;1841628;1843294;1845978;1862002;1862004;1862006;1862008;1862010;1862012;1862014;1862016;1862018;1862020;1862022;1862024;1862026;1862028;1862030;1862032;1862034;1862036;1862038;1862040;1862042;1862044;1862046;1862048;1862050;1862052;1862054;1862056;1862058;1862060;1862062;1862064;1862066;1862068;1862070;1862072;1862074;1862076;1862078;1862080;1862082;1862084;1862086;1862088;1862090;1862092;1862094;1862096;1862098;1862100;1862102;1862104;1862106;1862108;1862110;1862112;1862114;1862116;1862118;1862120;1862122;1862124;1862126;1862128;1862130;1862132;1862134;1862136;1862138;1862140;1862142;1862144;1862146;1862148;1862150;1862152;1862154;1862156;1862158;1862160;1862162;1862164;1862166;1862168;1862170;1862172;1862174;1862176;1862178;1862180;1862182;1862184;1862186;1862188;1862190;1862192;1862194;1862196;1862198;1862200;1862202;1862204;1862206;1862208;1862210;1862212;1862214;1862216;1862218;1862220;1862222;1862224;1862226;1862228;1862230;1862232;1862234;1862236;1862238;1862240;1862242;1862244;1862246;1862248;1862250;1862252;1862254;1862256;1862258;1862260;1862262;1862264;1862266;1862268;1862270;1862272;1862274;1862276;1862278;1862280;1862282;1862284;1862286;1862288;1862290;1862292;1862294;1862296;1862298;1862300;1862302;1862304;1862306;1862308;1862310;1862312;2113330;2145029;2197466;2197468;2197470;2197472;2197474;2197476;2197478;2197480;2197482;2197484;2197486;2197488;2197490;2197492;2197494;2197496;2197498;2197500;2197502;2197504;2197506;2197508;2197510;2197512;2197514;2197516;2197518;2197520;2197522 D13S1726;ECD02073;ECD02689;ECD03504;ECD03849;ECD05534;ECD06777;ECD07023;ECD08348;ECD08497;ECD09753;ECD10057;ECD11717;ECD12545;ECD13748;ECD14416;ECD14417;ECD15078;ECD16330;ECD16511;ECD16611;ECD17225;ECD17551;ECD17834;ECD17944;ECD18470;ECD19166;ECD19461;ECD19631;ECD20790;ECD20916;ECD21675;ECD21800;ECD22011;ECD22855;ECD24209;G17759;REN1659;REN1660;REN1661;REN1662;REN1663;REN1664;REN1665;REN1666;REN1667;REN1668;REN1669;REN1670;REN1671;REN1672;REN1673;REN1674;REN1675;REN1676;REN1677;REN1678;REN1679;REN1680;REN1681;REN1682;REN1683;REN1684;REN1685;REN1686;REN1687;REN1688;REN1689;REN1690;REN1691;REN1692;REN1693;REN1694;REN1695;REN1696;REN1697;REN1698;REN1699;REN1700;REN1701;REN1702;REN1703;REN1704;REN1705;REN1706;REN1707;REN1708;REN1709;REN1710;REN1711;REN1712;REN1713;REN1714;REN1715;REN1716;REN1717;REN1718;REN1719;REN1720;REN1721;REN1722;REN1723;REN1724;REN1725;REN1726;REN1727;REN1728;REN1729;REN1730;REN1731;REN1732;REN1733;REN1734;REN1735;REN1736;REN1737;REN1738;REN1739;REN1740;REN1741;REN1742;REN1743;REN1744;REN1745;REN1746;REN1747;REN1748;REN1749;REN1750;REN1751;REN1752;REN1753;REN1754;REN1755;REN1756;REN1757;REN1758;REN1759;REN1760;REN1761;REN1762;REN1763;REN1764;REN1765;REN1766;REN1767;REN1768;REN1769;REN1770;REN1771;REN1772;REN1773;REN1774;REN1775;REN1776;REN1777;REN1778;REN1779;REN1780;REN1781;REN1782;REN1783;REN1784;REN1785;REN1786;REN1787;REN1788;REN1789;REN1790;REN1791;REN1792;REN1793;REN1794;REN1795;REN1796;REN1797;REN1798;REN1799;REN1800;REN1801;REN1802;REN1803;REN1804;REN1805;REN1806;REN1807;REN1808;REN1809;REN1810;REN1811;REN1812;REN1813;REN1814;SHGC-60145;stSG616791;stSG616792;stSG616793;stSG616794;stSG616795;stSG616796;stSG616797;stSG616798;stSG616799;stSG616800;stSG616801;stSG616802;stSG616803;stSG616804;stSG616805;stSG616806;stSG616807;stSG616808;stSG616809;stSG616810;stSG616811;stSG616812;stSG616813;stSG616814;stSG616815;stSG616816;stSG616817;stSG616818;stSG616819 RP11-374F3.4 ncrna ENSG00000238121 HGNC:42761 VALIDATED 6481137 LINC00457 long intergenic non-protein coding RNA 457 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 35009587 35214822 - 34435450 34640685 - 8554872 100874179 ABBA01010164;ABBA01010165;ABBA01010166;AI201900;AI972930;AL138956;AL138961;AL161716;AMYH02027845;AMYH02027846;AMYH02027847;AMYH02027848;AMYH02027849;HG505542;KF455757;KF455758;KF455759;KF455760;NR_047036 Hs.569253 RP11-16D22.1 ncrna ENSG00000225179 HGNC:42805 VALIDATED 5488837 LINC00458 long intergenic non-protein coding RNA 458 13 13 q14.3 54698459 54707001 - 54124324 54132871 - 23725790 100507428 ABBA01037051;AL356052;AMYH02028061;BC017942;BC018008;BC020935;BC026300;CX163049;CX163203;HG505682;HG505685;NR_108062;NR_108063 Hs.351262 LncRNA-ES3;RP11-168P6.1 ncrna ENSG00000234787 HGNC:42807 VALIDATED 5486603 LINC00410 long intergenic non-protein coding RNA 410 13 13 13 q31.3 72388692 72424334 - 91543208 91578851 - 90890954 90926597 - 11181995;14702039 144776 ABBA01027242;AK055781;AL355799;AMYH02028465;AMYH02028466;CH471085;HG505811;KF455813;NR_027039 EAX08924 Hs.434120;Hs.742599 2139779 D13S1190 RP11-432D3.1 ncrna ENSG00000231674 HGNC:42742 VALIDATED 5488222 LINC00460 long intergenic non-protein coding RNA 460 13 13 13 q33.3 87873192 87874421 + 107028911 107030140 + 106376563 106377792 + 12477932 728192 ABBA01027050;AL136159;AMYH02028663;BC009533;BC061905;BI544279;HG505867;HG505869;NR_034119 Hs.559194 RP11-165M6.1 ncrna HGNC:42809 VALIDATED 6484100 LINC00462 long intergenic non-protein coding RNA 462 13 13 13 q14.2 30196499 30219450 - 49151110 49155037 - 48576974 48580901 - 100129597 ABBA01051009;AI307356;AL157813;AMYH02028004;BM472085;HG505633;NR_051983 Hs.175225 1730928;2111604 D13S1545;D13S210 RP11-165D7.4 ncrna ENSG00000233610 HGNC:42811 VALIDATED 8662525 LINC00463 long intergenic non-protein coding RNA 463 13 13 q12.13 25749013 25754139 - 25174875 25180001 - 12477932;8889548 101928922 AA719680;ABBA01007899;AL359757;AMYH02027718;BC022569;BU165513;BU182247;NR_120428;XR_245411;XR_247901;XR_253152 Hs.585620 AMER2-AS1 ncrna HGNC:42813 VALIDATED 6481141 LINC00464 long intergenic non-protein coding RNA 464 100874181 AL138999;AL139081;AL139383;AL161719 ncrna HGNC:42814 1606485 LINC00467 long intergenic non-protein coding RNA 467 INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 1 1 1 q32.3 184782772 184832462 + 211556097 211605877 + 211382755 211432535 + 6480464 12477932;15342556;15489334;16710414;19773279;24586304 84791 Q9BRT7 ABBA01048192;AK130857;AK130858;AL590101;AMYH02002624;BC005997;BP197632;BX382054;CH471100;NR_026761 EAW93415;EAW93416;Q9BRT7 Hs.523932 5037552 D8S2279 C1orf97;FLJ27347;FLJ27348;MGC14801;RP11-318L16.3 APPROVED ncrna HGNC:28227 17500 VALIDATED 1343439 LINC00470 long intergenic non-protein coding RNA 470 INTERACTS WITH calcitriol; silicon dioxide 18 18 18 1143158 1234457 - 1268312 1359630 - 1268311 1359629 - 6480464 11173868;14702039 56651 Q9BZP3 ABBA01049826;AF295725;AF295726;AF295727;AF295728;AF295729;AF295730;AK057505;AMYH02034200;AP000829;AP005119;CH471113;HG509628;HG509629;HG509630;HG509631;HG509633;HG509634;HG509635;KF456342;NR_023925;NR_023926;NR_023927;NR_110327 AAK13319;AAK13320;AAK13321;EAX01703;EAX01704;Q9BZP3 Hs.541165 1740225;2136751;2160782 D18S1076;D18S1316;SHGC-59268 C18orf2 APPROVED ncrna HGNC:1225 07576 VALIDATED 5489845 LINC00466 long intergenic non-protein coding RNA 466 1 1 p31.3 63624754 63782901 - 63159083 63317230 - 12477932 199899 ABBA01074575;ABBA01074576;ABBA01074577;AC096543;AL049636;AL138935;AMYH02001145;AMYH02001146;AMYH02001147;AMYH02001148;AMYH02001149;AMYH02001150;AMYH02001151;AMYH02001152;BC040309;HG492125;HG492127;NR_038252 Hs.116210 ncrna HGNC:27294 VALIDATED 1605277 LINC00471 long intergenic non-protein coding RNA 471 ASSOCIATED WITH Melanoma (inferred) 2 2 2 q37.1 226149538 226155456 - 232373137 232379050 - 231508426 231514339 - 8554872 12477932;23563607 151477 Q8N535 ABBA01002056;AC017104;AMYH02005970;BC033054;CH471063;LN607947;NR_024079 AAY24248;ABM82565;ABM85754;EAW70965 Hs.375211 C2orf52;MGC43122 APPROVED ncrna ENSG00000181798 HGNC:28668 14629 PREDICTED 1342598 LINC00473 long intergenic non-protein coding RNA 473 INVOLVED IN transcription, DNA-templated; INTERACTS WITH benzo[a]pyrene diol epoxide I; torcetrapib 6 6 6 q27 167077057 167141065 - 166337536 166401527 - 165924048 165988039 - 6480464 12477932;16344560;22108211 90632 A8K010 ABBA01015078;ABBA01015079;ABBA01015080;ABBA01015081;AK289375;AL132661;AL590482;AMYH02014958;BC008632;BC039614;CB270066;DA416538;NR_026860;NR_026861 A8K010;BAF82064 Hs.31917 1691924;1697838;1710282;1773832;2167696 AL033626;D6S2174;D6S392;RH102444;SHGC-85237 C6orf176;bA142J11.1 APPROVED ncrna ENSG00000223414 HGNC:21160 VALIDATED 1348848 LINC00475 long intergenic non-protein coding RNA 475 9 9 9 q22.31 65340042 65358183 + 94903749 94921890 + 92141467 92159608 + 12477932;14702039 158314 ABBA01018582;AK023662;AL354751;AMYH02021218;BC128384;LN608301;LN608306;NR_027341 Hs.149940 1680717;1697200;1744883 D17F294S2;RH102091;RH76735 C9orf44 APPROVED ncrna HGNC:23569 PREDICTED 2303472 LINC00472 long intergenic non-protein coding RNA 472 INTERACTS WITH amiodarone; benzo[a]pyrene; valproic acid 6 6 6 q13 72512586 72518885 - 72120876 72130523 - 71414446 71420745 - 6480464 14574404;14702039;16344560;8889548 79940 Q9H8W2 ABBA01040282;AI498652;AI674733;AI688494;AI808466;AI985403;AK023251;AL035467;AMYH02013881;AW274058;BM720568;BX118240;CD674415;CH471051;DA622283;HG499370;HG499372;HG499373;NR_026807;NR_121612;NR_121613;NR_121614;XR_426058;XR_427982;XR_432036 BAB14488;EAW48798;EAW48799;EAW48800;EAW48801;Q9H8W2 Hs.368337;Hs.729593 1747881 G66871 C6orf155;FLJ13189;dJ288M22.3 APPROVED ncrna ENSG00000233237 HGNC:21380 12860 VALIDATED 1343338 LINC00474 long intergenic non-protein coding RNA 474 INTERACTS WITH zinc atom; zinc(0) 9 9 9 q31.3 89298154 89334987 - 118650544 118687377 - 115888265 115925098 - 6480464 10492169;12477932;20583170;21184217;24529757 58483 Q9P2X8 AB021923;ABBA01042650;AL732367;AMYH02021530;BC104240;BC104241;BC112996;BC112997;BC120871;BC128039;CH471090;HG502368;NR_024032 BAA96243;EAW87438;Q9P2X8 Hs.23367 1662847;1667227;1722239 G60025;RH36595;WIAF-2155 C9orf27;EST-YD1;MGC126098;MGC126099 APPROVED ncrna HGNC:23367 12951 PREDICTED 1353553 LINC00476 long intergenic non-protein coding RNA 476 9 9 9 q22.32 69009955 69079860 - 98568370 98638259 - 95806088 95875977 - 14702039;15164053;8889548 100128782 Q8WZ93;Q8WZB0 ABBA01043604;ABBA01043605;AF170307;AF194971;AK092137;AK092145;AL161454;AL354861;AL389954;AMYH02021288;BU687794;CH471174;NR_023389;NR_023390 AAL35407;AAL35408;EAW92634;Q8WZB0 Hs.494549 1675347;1688859;1695998;1708986;1856811;2115922;2128281;5015881;5022649;5024756;5037552 D11S2875;D8S2279;GDB:335751;RH66530;RH79616;RH80030;RH93909;SHGC-57426;SHGC-79554;SHGC-82765;U57801 C9orf130;FLJ34818;FLJ34826;NAG11;NAG12 APPROVED ncrna ENSG00000175611 HGNC:27858 VALIDATED 1605548 LINC00469 long intergenic non-protein coding RNA 469 ASSOCIATED WITH Melanoma (inferred) 17 17 17 q25.1 68329905 68410352 - 71745409 71824676 - 73749270 73828537 - 8554872 12477932;14702039;15489334;23382691 283982 Q8N7U9 ABBA01028855;ABBA01028856;AC125421;AK097638;AMYH02033969;AMYH02033970;BC101213;BC101214;BC101215;CH471099;HG509423;HG509424;KF459803;KF459806;NR_027146 AAI01214;AAI01216;BAC05128;EAW89134;EAW89135;Q8N7U9 Hs.464079 1338578;1762119 D17S1829;SHGC-146017 C17orf54;FLJ40319;MGC120127 APPROVED ncrna HGNC:26863 08277 PREDICTED 1346473 LINC00479 long intergenic non-protein coding RNA 479 INTERACTS WITH atrazine 21 21 21 q22.3 28281476 28285731 - 43131680 43135935 - 41711520 41715775 - 10830953;12477932;14702039;16009131;20494980 150135 Q96M42 ABBA01012805;AK057397;AMYH02037864;AP001615;BC128198;CH471079;HG511844;HG511845;HG511847;NR_027272 BAB71470;EAX09593;EAX09594;Q96M42 Hs.350679 1680188 RH98449 C21orf129;FLJ32835;PRED76 APPROVED ncrna ENSG00000236384 HGNC:19727 10741 VALIDATED 2302584 LINC00483 long intergenic non-protein coding RNA 483 ASSOCIATED WITH Melanoma (inferred) 17 17 17 q21.33 45296105 45306275 - 48834759 48844918 - 50761034 50767515 - 8554872 12477932;15342556 55018 Q53H64 ABBA01041246;AC005921;AK000670;AK000701;AK222717;AK310037;AMYH02033600;BC128165;BC128166;BP382918;CH471109;NR_073199 BAA91328;BAD96437;EAW94582;Q53H64 Hs.389460 2220572;5024761;5037552 D8S2279;RH36905;UniSTS:485494 C17orf73;FLJ20694 APPROVED ncrna ENSG00000167117 HGNC:26080 07942 VALIDATED 1602280 LINC00482 long intergenic non-protein coding RNA 482 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid 17 17 17 q25.3 75910977 75917780 - 79276624 79283048 - 81302824 81309248 - 6480464;8554872 12477932;14702039 284185 Q8N8I6 ABBA01032137;ABBA01032138;AC027601;AK096740;AMYH02034124;AMYH02034125;BC108932;BC108933;CH471099;HG509545;NR_038080 AAI08933;AAI08934;BAC04855;EAW89645;EAW89646;Q8N8I6 Hs.631762 2165357 RH47108 C17orf55;FLJ39421;MGC120553;MGC120556 hypothetical protein LOC284185 APPROVED ncrna HGNC:26816 08254 VALIDATED 6482623 LINC00485 long intergenic non-protein coding RNA 485 12 12 12 q23.2 102866979 102882094 - 103203061 103218177 - 102809283 102824399 - 283432 ABBA01053223;AC069227;AMYH02027078;BC037211;HG505122;NR_033855 Hs.382110 5015861;5022578;5037552;7185938 D10S16;D1S1423;D8S2279 RP11-478G16.1 ncrna ENSG00000258169 HGNC:27476 PREDICTED 2303460 LINC00488 long intergenic non-protein coding RNA 488 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 3 3 3 q13.13 107295148 107302244 + 108897012 108904108 + 109178165 109185261 + 8554872 12477932;14702039 677779 ABBA01061697;AC063923;AK123226;AMYH02007403;BC022563;CX865329;HG495915;NR_026767 Hs.618669 C3orf66;FLJ41232 APPROVED ncrna ENSG00000214381 HGNC:32675 VALIDATED 5686919 LINC00489 long intergenic non-protein coding RNA 489 20 20 q11.23 36247700 36251521 - 37619298 37623119 - 16344560 100861522 ABBA01006623;AL109614;AMYH02037050;DB341379;HG511352;NR_047461 Hs.580680 ncrna ENSG00000225759 HGNC:43426 VALIDATED 1603360 LINC00477 long intergenic non-protein coding RNA 477 FOUND IN integral component of membrane (inferred); INTERACTS WITH fonofos; parathion; terbufos 12 12 12 p12.1 29866796 29884000 - 24719898 24737102 - 24566964 24584168 - 6480464 12477932;14702039;20339536;20639392;23583979 144360 Q96M19 ABBA01068004;AC087312;AK057456;AMYH02026213;BC104436;BC104437;CH471094;HG504593;NR_029451 BAB71495;EAW96495;Q96M19 Hs.350668 1710906;5493159 SHGC-84250;UniSTS:484501 C12orf67;FAM191B;FLJ32894;MGC129798;MGC129799;RP11-615I16.2 APPROVED ncrna ENSG00000197503 HGNC:26557 08738 VALIDATED 5484684 LINC00461 long intergenic non-protein coding RNA 461 INTERACTS WITH valproic acid 5 5 5 q14.3 83729558 83873577 - 87836597 87980620 - 88540779 88684803 - 6480464 12477932;14702039;16344560;20195357;21060863;25209608 645323 ABBA01062135;ABBA01062136;ABBA01062137;AC008525;AC008526;AC012604;AC026701;AK055372;AK091356;AK308694;AK309800;AK311230;AMYH02011759;AMYH02011760;AMYH02011761;BC036480;BC047100;BC048008;DA122372;DA493278;DA778665;DB490657;DC320345;HG498190;HG498192;HG498193;HG498195;HG498196;HG498197;HG498198;HG498199;HG498200;HG498203;HG498204;HG498205;KF573702;NR_015436;NR_024383;NR_024384 Hs.12827;Hs.744298 1659380;1668340;1757611;2111348;2117767;2157795 A008L33;AFMa224we5;D5S1558E;RH66334;SHGC-145106;WI-19356 EyeLinc1;Visc-1a;Visc-1b;Visc-2 ncrna ENSG00000245526 HGNC:42810 VALIDATED 5686947 LINC00492 long intergenic non-protein coding RNA 492 5 q21.1 102581368 102617589 + 22412388;8889548 100861468 ABBA01069151;ABBA01069152;AC099487;AMYH02011876;CA314239;NR_047462 Hs.519483 ncrna ENSG00000250958 HGNC:43429 VALIDATED 5509666 LINC00493 long intergenic non-protein coding RNA 493 INTERACTS WITH valproic acid; zinc atom; zinc(0) 20 20 20 p11.23 18622141 18624272 + 18548073 18550204 + 18567429 18569560 + 6480464 12477932;21906983 388789 ABBA01054048;ABBA01054049;AF147354;AK024594;AL121900;AMYH02036780;BC015983;BC039422;BC092494;BC127753;BC127754;BC141963;BC141964;BC150559;BC150560;NR_015432 Hs.349092 2156379 HUM000HB11 FLJ20941 ncrna ENSG00000232388 HGNC:43430 PREDICTED 6481320 LINC00498 long intergenic non-protein coding RNA 498 q28.3 100874046 AC093903;DB449948 ncrna HGNC:43435 6481323 LINC00499 long intergenic non-protein coding RNA 499 4 4 139230865 139345498 + 138309711 138424344 + 16344560 100874047 ABBA01044915;AC093903;AC105416;AMYH02010180;DA139039;DA150093;DA157986;DA412005;HG497303;NR_051987 Hs.570848 RP11-733C7.2 ncrna ENSG00000251372 HGNC:43436 VALIDATED 6482540 LINC00486 long intergenic non-protein coding RNA 486 2 2 2 p22.3 32895324 33000994 + 33050266 33162270 + 32825443 32937203 + 12477932;14702039;22610502 285045 ABBA01074900;ABBA01074901;ABBA01074902;ABBA01074903;AK095182;AL121656;AL133244;AMYH02003557;AMYH02003558;AMYH02003559;BC040883;BC121144;BC121145;HG493816;HG493817;HG493818;NR_027098;NR_027099;NR_027100 Hs.434660 1339808 D2S2325 AL121656.4 ncrna ENSG00000230876 HGNC:42946 PREDICTED 5509631 LINC00491 long intergenic non-protein coding RNA 491 5 5 q21.2 101944196 102006996 - 102608492 102671292 - 12477932;14702039;15146197;16344560;25200694 285708 ABBA01069151;ABBA01069152;AC099487;AK092078;AMYH02011876;AMYH02011877;BC008363;BG777293;CN270888;DA458115;DA458823;DB322847;HG498293;HG498294;NR_103753;NR_103754;NR_103755;NR_103756 Hs.533011 5014051;5022578;5037552 D1S1423;D8S2278;D8S2279 ncrna HGNC:43428 VALIDATED 5133342 LINC00487 long intergenic non-protein coding RNA 487 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 2 p25.2 6782275 6823418 - 6869300 6910442 - 6729168 6770311 - 8554872 400941 Q6ZVL4 AA768014;ABBA01023892;ABBA01023893;ABBA01023894;AC079923;AK124409;AMYH02003226;BX118372;HG493596;KF510824;NR_038369 BAC85847 Hs.446195 1685810 RH99298 AC079923.1;FLJ42418 APPROVED ncrna ENSG00000205837 HGNC:42947 13462 VALIDATED 6481146 LINC00502 long intergenic non-protein coding RNA 502 10 10 92805565 92821916 + 91045808 91062159 + 16344560 100874184 ABBA01021930;AL365434;AMYH02023520;AW169934;DB339345;NR_047467 Hs.512240 ncrna HGNC:43442 VALIDATED 6481259 LINC00505 long intergenic non-protein coding RNA 505 p33 11329013 100874049 AL137797;BG460604 ncrna HGNC:43556 5552963 LINC00494 long intergenic non-protein coding RNA 494 20 20 20 q13.13 43692215 43702942 + 46988654 46999381 + 48359911 48370638 + 12477932;16344560 284749 AA400799;ABBA01052718;AL137078;AL832259;AMYH02037191;BC035164;BC122555;DB034461;HG511407;NR_026958 AAI22556 Hs.299080 RP1-66N13.3 ncrna ENSG00000235621 HGNC:27657 VALIDATED 5509959 LINC00506 long intergenic non-protein coding RNA 506 3 p12.1 87089280 87157069 + 12477932;16344560;19767753;20676098 100846978 ABBA01004628;AC107204;AC108709;AC123511;AMYH02007210;BC030609;DA227977;DA542035;DB139871;NR_047469;NR_104153 Hs.570649 5015661;5118384;5118686 D11S3243;D11S3553;D3S3184 ncrna HGNC:43557 VALIDATED 5688428 LINC00507 long intergenic non-protein coding RNA 507 12 12 q24.32 128399955 128436097 + 127915410 127951552 + 12477932 100862680 ABBA01060300;AC087894;AMYH02027519;AMYH02027520;AMYH02027521;BC037880;BC045798;HG505360;HG505361;HG505362;NR_046392 Hs.385496 RP11-749H20.6 ncrna ENSG00000256193 HGNC:43558 VALIDATED 5553025 LINC00511 long intergenic non-protein coding RNA 511 17 17 17 q24.3 67165502 67207935 - 70594180 70636611 - 72598041 72640472 - 23400010;24068947 400619 ABBA01028886;ABBA01028887;AC006948;AC080037;AK129994;AMYH02033944;HG509411;KF456313;NR_033876 Hs.447555 FLJ26484 ncrna ENSG00000227036 HGNC:43564 VALIDATED 5683682 LINC00514 long intergenic non-protein coding RNA 514 16 16 16 p13.3 3244505 3249960 + 3039055 3044510 + 2989054 2994509 + 14702039 283875 ABBA01026723;AC004233;AK098017;AK128266;AMYH02031280;HG507639;HG507640;HG507641;NR_033861 Hs.620489;Hs.738691 5015404;5016478;5016781;5022578;5024413;5037552 D1S1423;D8S2279;GDB:434012;L17705;L17877;SHGC-67307 FLJ46402;LA16c-380H5.1 ncrna HGNC:27549 PREDICTED 5509629 LINC00501 long intergenic non-protein coding RNA 501 3 q26.32 177294442 177323435 + 14702039 100820709 ABBA01058577;ABBA01058578;ABBA01058579;AC117465;AK055528;AMYH02008196;NR_047465 Hs.518409 5014051;5022200;5022578;5037552 D1S1423;D8S2278;D8S2279;L18426 ncrna ENSG00000203645 HGNC:43439 VALIDATED 1354296 LINC00523 long intergenic non-protein coding RNA 523 14 14 14 q32.2 81178440 81193917 + 101123605 101139081 + 100657268 100672744 + 12477932;14702039;22118674 283601 Q86TU6 ABBA01048523;AK094097;AL132711;AMYH02029858;BC132989;BC132991;BX161445;CH471061;NR_024096 CAD61912;EAW81709;Q86TU6 Hs.379802 C14orf70 APPROVED ncrna ENSG00000196273 HGNC:20117 16621 PREDICTED 1344728 LINC00521 long intergenic non-protein coding RNA 521 INTERACTS WITH amiodarone; atrazine 14 14 14 q32.12 74517363 74531787 + 94463616 94478041 + 93997270 94011695 + 6480464 12477932;14702039;15014966;15489334;16189514 256369 Q8NCU1 AA412651;ABBA01030424;AK097741;AL079302;AL157489;AMYH02029778;BC021728;BC031252;BI458986;CH471061;DB446670;LK938461;LK938462;LK938463;NR_024182;NR_024183;NR_024184 BAC05156;EAW81544;EAW81545;EAW81546;Q8NCU1 Hs.143845 1690996;2151097;2152366 D14S846;G27504;RH92153 C14orf48;DKFZp434O1910;MGC33356;c14_5713 APPROVED ncrna ENSG00000175699 HGNC:19860 12651 VALIDATED 5684119 LINC00525 long intergenic non-protein coding RNA 525 INTERACTS WITH all-trans-retinoic acid 7 7 p12.3 47801074 47806370 + 47761476 47766772 + 6480464 12477932;12690205;12853948 84847 Q96IP2 ABBA01041085;AC019066;AMYH02015660;BC007354;CH236958;HG500251;NR_038407 AAH07354;AAS07565;EAL23805 Hs.488236 AC019066.3;MGC16075 ncrna ENSG00000146666 HGNC:40290 PREDICTED 1352200 LINC00515 long intergenic non-protein coding RNA 515 INTERACTS WITH valproic acid 21 21 21 q21.3 12138498 12138947 - 26955087 26955536 - 25582775 25583224 - 6480464 282566 ABBA01057210;AF086441;AMYH02037647;AP000223;HG511671;NR_024092 Hs.384586 1699602 RH103402 AP000223.42;C21orf71;PRED21 APPROVED ncrna ENSG00000260583 HGNC:16019 PREDICTED 1342701 LINC00526 long intergenic non-protein coding RNA 526 INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; cyclosporin A 18 18 18 p11.31 5121152 5122457 - 5236723 5238028 - 5236724 5238029 - 737633;6480464 12477932 15489334 147525 Q96FQ7 ABBA01049876;AK292743;AMYH02034241;AP001496;BC010538;CH471113;NR_026849 BAF85432;EAX01649;Q96FQ7 Hs.657197 1339551;2141333 D7S509;RH78881 C18orf18;HsT959;MGC17515 APPROVED ncrna HGNC:28278 VALIDATED 1602284 LINC00518 long intergenic non-protein coding RNA 518 6 6 6 p24.3 11656497 11663529 - 10428018 10435055 - 10427785 10434822 - 12477932;24906614 221718 Q8N0U6 ABBA01022076;AL138885;AMYH02013095;BC016666;BC017496;BC028118;CH471087;HG498974;HG498976;HG498978;NR_027793 AAH17496;AAH28118;EAW55254;EAW55255;EAW55256;Q8N0U6 Hs.44714 1678007 RH94060 C6orf218;MGC40222;RP1-290I10.8 APPROVED ncrna HGNC:28626 17554 VALIDATED 7246732 LINC00528 long intergenic non-protein coding RNA 528 INTERACTS WITH vincristine 22 22 22 q11.21 1879714 1881905 + 18260056 18262247 + 17777290 17779481 + 6480464 14702039;16344560 200298 Q8N1L1 ABBA01001429;AC016026;AK097861;AMYH02038016;AW406974;DB114556;NR_103718 BAC05187;Q8N1L1 Hs.517397 1685321;2161705 RH27783;RH77734 C22orf37 ncrna ENSG00000269220 HGNC:26875 VALIDATED 6481264 LINC00534 long intergenic non-protein coding RNA 534 ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 91233716 91400187 + 90221488 90387959 + 8554872 100874052 ABBA01037407;ABBA01037408;AC004083;AC079967;AMYH02018395;BF212685;BG492574;BG494657;BG496346;HG501443;HG501444;HG501446;NR_051989 Hs.571514 RP11-1058B10.1 ncrna ENSG00000253394 HGNC:43643 VALIDATED 5687411 LINC00536 long intergenic non-protein coding RNA 536 ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 q23.3 116962736 117337297 - 115950511 116325059 - 8554872 12477932 100859921 ABBA01037782;ABBA01037783;ABBA01037784;ABBA01037785;ABBA01037786;ABBA01037787;ABBA01037788;AC090994;AC103863;AEKP01016122;AF130342;AF130343;AMYH02018653;AMYH02018654;AMYH02018655;BC040336;HG501596;KC877324;KC877327;KF458831;NR_046215 Hs.552281 AF130342.1 ncrna ENSG00000249917 HGNC:43645 VALIDATED 5686983 LINC00538 long intergenic non-protein coding RNA 538 1 1 q32.3 214098092 214099997 + 213924749 213926654 + 22258142 100861504 ABBA01048151;AC011700;AMYH02002661;JF495099;NR_046189 Hs.742586 PROX1UP;PROX1UT;Yiya ncrna HGNC:43655 614635 PROVISIONAL 5687497 LINC00539 long intergenic non-protein coding RNA 539 13 13 q12.11 21877373 21929207 - 21303512 21344859 - 10409428;23251661 100652865 AA446493;ABBA01068604;AI206458;AL139380;AL158032;AMYH02027658;AMYH02027659;BF185586;BQ007438;CD684045;HG505449;HG505450;HG505452;NR_103840;NR_103841 Hs.659198 LINC00422 ncrna HGNC:43672 VALIDATED 1345483 LINC00524 long intergenic non-protein coding RNA 524 q32.31 338002 AA602129;AL355096;NR_126006 Hs.124848 C14orf71 chromosome 14 open reading frame 71 APPROVED ncrna HGNC:20118 VALIDATED 5687490 LINC00540 long intergenic non-protein coding RNA 540 INTERACTS WITH valproic acid 13 13 13 3846894 3913141 + 22784424 22850660 + 22210285 22276521 + 6480464 12477932;14702039 100506622 ABBA01068616;AK054845;AL136962;AL137248;AL590804;AMYH02027673;BC035104;NR_103810 Hs.255773 1661014;2176868 D13S115;D13S323 ncrna ENSG00000276476 HGNC:43673 VALIDATED 1312543 LINC00520 long intergenic non-protein coding RNA 520 INTERACTS WITH 3,4-dichloroaniline; copper atom; copper(0) 14 14 14 q22.3 36297194 36312734 - 56247853 56263392 - 55781135 55796674 - 6480464 23251661 645687 ABBA01018217;AL355773;AMYH02029243;BG104219;BU171486;BU178088;LN608516;NR_026796;NR_026797 Hs.569345 1707338 SHGC-79290 C14orf34 APPROVED ncrna HGNC:19843 VALIDATED 5687453 LINC00545 long intergenic non-protein coding RNA 545 INTERACTS WITH valproic acid 13 13 13 q12.3 12503337 12524082 + 31456699 31457532 + 30882562 30883395 + 6480464 11181995;11329013 440132 ABBA01010119;AL353680;AL512642;AL645498;AL929081;AMYH02027802;BG199438;BX510662;CH471075;NR_103813 EAX08468;EAX08469 Hs.729493 1335512;1681817;1755619;1759191;2113420 D13S1774;D13S290;RH98804;SHGC-142473;SHGC-2181 ncrna ENSG00000236094 HGNC:43680 VALIDATED 6480356 LINC00535 long intergenic non-protein coding RNA 535 ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 8 q22.1 90545434 90898770 - 94358695 94712661 - 93346467 93700433 - 8554872 12477932 642924 ABBA01037434;ABBA01037435;ABBA01037436;ABBA01037437;ABBA01037438;AC011118;AC090687;AC120053;AMYH02018413;AMYH02018414;AMYH02018415;AMYH02018416;AMYH02018417;AMYH02018418;AMYH02018419;AMYH02018420;BC037909;HG501471;KF458794;KF458798;KF458803;NR_033858 Hs.434882 1644534;1698054;1708306;1752207;1767737;1772431;1776124;1786796 D8S1455;D8S1637;D8S2097;GDB:1317564;RH102558;SHGC-106116;SHGC-156129;SHGC-79712 RP11-163D8.1 ncrna ENSG00000246662 HGNC:43644 VALIDATED 5687399 LINC00547 long intergenic non-protein coding RNA 547 13 13 q13.3 38109077 38125673 + 37534940 37551536 + 14702039 400121 ABBA01021331;AK092066;AL136220;AL646087;AMYH02027881;LK938483;NR_040244 Hs.558894 FLJ34747 ncrna ENSG00000275226 HGNC:43682 VALIDATED 1604900 LINC00544 long intergenic non-protein coding RNA 544 13 13 13 q12.3 11580295 11594237 + 30510668 30524625 + 29936531 29950488 + 12477932 440131 ABBA01035707;AI026706;AL139188;AMYH02027785;BC132810;BC132836;BX118434;CH471075;HG505491;NR_033889 EAX08450 Hs.132371 1810786;1812882;1814634;1815552;1837524;1858690;1858692;1858694;1858696;1858698;1858700;1858702;1858704;1858706;1858708;1858710;1858712;1858714;1858716;1858718;1858720;1858722;1858724;1858726;1858728;1858730;1858732;1858734;1858736;2196944;2196946;2196948;2196950 ECD06391;ECD07454;ECD08347;ECD08812;ECD19929;REN1;REN10;REN11;REN12;REN13;REN14;REN15;REN16;REN17;REN18;REN19;REN2;REN20;REN21;REN22;REN23;REN24;REN3;REN4;REN5;REN6;REN7;REN8;REN9;stSG616521;stSG616522;stSG616523;stSG616524 APPROVED ncrna HGNC:43679 17398 VALIDATED 5687412 LINC00548 long intergenic non-protein coding RNA 548 13 13 13 q14.11 21821306 21852174 - 40768646 40794639 - 40194509 40220502 - 400123 ABBA01021300;ABBA01021301;ABBA01021302;AK124383;AL356217;AMYH02027903;AMYH02027904;AMYH02027905;LK938488;NR_033877 Hs.577960 FLJ42392 ncrna ENSG00000278772 HGNC:43683 VALIDATED 5687474 LINC00550 long intergenic non-protein coding RNA 550 13 13 q21.33 69435416 69459457 - 68861284 68885325 - 12477932 338862 ABBA01050299;AL450445;AMYH02028211;AMYH02028212;BC042673;NR_038878 ncrna HGNC:43688 VALIDATED 1352058 LINC00527 long intergenic non-protein coding RNA 527 q22.2 54748 Q9UJ94 AJ011409 CAB56458;Q9UJ94 Hs.548784 1821612;1896116;1896118 ECD11892;REN18844;REN18845 APPROVED ncrna HGNC:17215 5687470 LINC00552 long intergenic non-protein coding RNA 552 13 13 13 q34 95179398 95181976 - 114451484 114454062 - 113748511 113751089 - 14702039 100130386 Q8N7Z6 ABBA01015953;AC187648;AK057435;AK097509;AMYH02028748;FP565177;NR_028064 BAB71485;BAC05080 Hs.704121 FLJ32873 ncrna ENSG00000279770 HGNC:43692 VALIDATED 6480350 LINC00554 long intergenic non-protein coding RNA 554 13 q32.3 99994899 99997909 - 12477932 100861542 ABBA01027103;AL355338;AMYH02028602;BC068276;NR_047483 Hs.508571 1737435 D13S1001 ncrna ENSG00000260738 HGNC:43697 VALIDATED 6480381 LINC00556 long intergenic non-protein coding RNA 556 q12.11 100861551 AF086361;AL138688 Hs.572247 1700726;2115776 RH103988;SHGC-57888 ncrna HGNC:43700 6480303 LINC00557 long intergenic non-protein coding RNA 557 q32.1 11991713 100861544 AF339811;AL139381 Hs.48706 1689496 RH91278 ncrna HGNC:43701 6481144 LINC00559 long intergenic non-protein coding RNA 559 13 13 90712501 90771971 - 90060247 90119717 - 12477932 100874187 ABBA01027252;ABBA01027253;AL442126;AMYH02028459;BC043442;HG505809;NR_047489 Hs.564526;Hs.743194 RP11-409J23.1 ncrna ENSG00000261446 HGNC:43703 VALIDATED 6480302 LINC00555 long intergenic non-protein coding RNA 555 q33.1 11991713 100861543 AF339825;AL158063 Hs.554116 1650093 RH48036 ncrna HGNC:43699 6480353 LINC00561 long intergenic non-protein coding RNA 561 q22.2 12477932 100861545 AL359392;BC034981 Hs.638962 ncrna HGNC:43705 5687539 LINC00551 long intergenic non-protein coding RNA 551 13 13 13 q33.3 88114387 88128053 + 107270158 107284006 + 106617810 106631658 + 283483 ABBA01027047;ABBA01027048;AK098538;AL442127;AMYH02028666;HG505870;KF455828;NR_051977 Hs.651365 1762663 SHGC-146458 RP11-297I6.5 ncrna ENSG00000272274 HGNC:43691 VALIDATED 6480355 LINC00558 long intergenic non-protein coding RNA 558 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 q14.3 54389554 54450254 + 53815419 53876119 + 8554872 12477932;20889312 100861552 ABBA01037055;AL390722;AL445225;AMYH02028060;AMYH02028061;BC041877;HG505679;KF455785;NR_047488 Hs.224691 RP11-474J1.1 ncrna ENSG00000261517 HGNC:43702 VALIDATED 6480299 LINC00563 long intergenic non-protein coding RNA 563 13 13 q14.13 46870580 46871979 - 46296445 46297844 - 8619474;9110174 100861554 ABBA01050985;AL139801;AMYH02027985;NR_047493;U79295 Hs.90866 1738385;1764999;2129092;2136877;2140693;2175568;5019667 A009C05;D13S658E;G32404;RH44231;SHGC-148550;STS-F02690;WI-20699 ncrna ENSG00000261097 HGNC:43707 VALIDATED 6480354 LINC00564 long intergenic non-protein coding RNA 564 q31.1 12477932 100861546 AL596085;BC039360 Hs.539621 ncrna HGNC:43708 6480348 LINC00565 long intergenic non-protein coding RNA 565 13 13 q34 114629487 114631964 - 113926514 113928991 - 14702039 100861555 ABBA01015945;AK092053;AMYH02028749;BQ576193;BX072579;NR_047495 Hs.353773 ncrna ENSG00000260910 HGNC:43709 VALIDATED 6480352 LINC00566 long intergenic non-protein coding RNA 566 q12.12 12477932 100861547 AL359736;AL359763;BC038727 Hs.585625 ncrna HGNC:43710 6480818 LINC00570 long intergenic non-protein coding RNA 570 2 2 11534107 11543203 + 11393981 11403077 + 20887892 100874055 ABBA01015648;ABBA01015649;AC099344;AI217162;AMYH02003288;BX102688;HG493656;NR_047499 Hs.102428 AC099344.4;ncRNA-a5 ncrna ENSG00000224177 HGNC:43717 VALIDATED 5687831 LINC00572 long intergenic non-protein coding RNA 572 13 13 q12.3 30492786 30500788 - 29918647 29926651 - 100861573 ABBA01035707;AL139188;AMYH02027785;BC039674;NR_047501 Hs.585619 ncrna ENSG00000224405 HGNC:43722 VALIDATED 6480349 LINC00562 long intergenic non-protein coding RNA 562 q14.2 14702039 100861549 AK123146;AL138962;AL157369;NR_047492 Hs.660978 5022651;5037552 D11S2921;D8S2279 ncrna HGNC:43706 VALIDATED 6480351 LINC00560 long intergenic non-protein coding RNA 560 13 13 q31.2 89279107 89282651 + 88626853 88630397 + 12477932 100861553 ABBA01027264;AL445984;AMYH02028438;BC043278;XR_243052;XR_247965;XR_253191 Hs.560132 ncrna ENSG00000261666 HGNC:43704 MODEL 6480819 LINC00571 long intergenic non-protein coding RNA 571 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 38624954 38717369 - 38050817 38143232 - 8554872 10737800 100874188 ABBA01021327;ABBA01021328;AL137245;AMYH02027887;AMYH02027888;AMYH02027889;BM023585;HG505550;NR_047500 Hs.569249 RP11-196I2.1 ncrna ENSG00000223685 HGNC:43721 VALIDATED 1345612 LINC00574 long intergenic non-protein coding RNA 574 6 6 6 q27 170899952 170912752 + 170190169 170202969 + 169790073 169802873 + 12477932;14574404;14702039;15489334;16344560 80069 Q9H8X3 ABBA01016120;AK023224;AL049612;AL354892;AMYH02015005;BC101251;BC101252;BC101253;BC101396;CH471051;DA918406;HG499911;NR_026780 BAB14475;EAW47434;Q9H8X3 Hs.677182 5015619;5022322 D11S2560;D11S3114 C6orf208;FLJ13162;MGC120218;RP1-266L20.3;dJ182D15.1 APPROVED ncrna ENSG00000231690 HGNC:21598 12876 VALIDATED 1342528 LINC00575 long intergenic non-protein coding RNA 575 4 4 4 q21.3 80825291 80833615 - 83534266 83542590 - 82613113 82621437 - 15218245 439934 Q6W349 ABBA01063438;AC067942;AC073413;AMYH02009603;AY316301;AY316302;CH471057;HG497037;NR_024087;NR_024088 AAR08267;AAR08268;EAX05900;EAX05901;Q6W349 Hs.457189 1674646;1762787;2154293 SHGC-146569;SHGC-31308;SHGC-50348 C4orf11;RP11-791G16.6 APPROVED ncrna ENSG00000231782 HGNC:21342 PREDICTED 6480858 LINC00581 long intergenic non-protein coding RNA 581 6 6 p22.3 21486292 21512123 - 21486061 21511892 - 21112873;22245136 100874531 AA910749;ABBA01022277;AL512380;AMYH02013275;BX118339;HG975386;NR_103790 Hs.112750;Hs.738315 ncrna HGNC:43840 VALIDATED 6480840 LINC00582 long intergenic non-protein coding RNA 582 1 1 1 q42.2 204991901 205012576 - 231727038 231747836 - 231591292 231612090 - 100287814 ABBA01033041;ABBA01033042;AI820788;AL626763;AMYH02002891;AMYH02002892;AMYH02002893;AW207115;BX092370;CH471098;NR_034037 EAW69965 Hs.25555 1658531;2122334 A008K14;RH45079 ncrna ENSG00000229228 HGNC:43842 VALIDATED 6480387 LINC00578 long intergenic non-protein coding RNA 578 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 177159709 177470492 + 177441921 177752704 + 8554872 16344560;20038947;23291589;23743675 100505566 ABBA01058566;ABBA01058567;ABBA01058568;ABBA01058569;ABBA01058570;ABBA01058571;ABBA01058572;AC026311;AC026325;AC026355;AC112136;AI792089;AMYH02008202;AMYH02008203;AMYH02008204;AMYH02008205;BX101293;DB235147;HG496332;HG496333;KF457712;KF457715;KF457719;NR_047568 Hs.581170 1334573;1341366;1642898;1661972;1713847;1721019;1751709;1784738;2179921 D3S1754;D3S2381;D3S3096;D3S3511;D3S3715;G59491;RH120812;SHGC-105734;SHGC-154073 RP11-335L9.1 ncrna HGNC:43807 VALIDATED 5132190 LINC00583 long intergenic non-protein coding RNA 583 9 9 p23 13927970 13945606 + 13927971 13945607 + 11181995;19240061 100113404 B1ANN4 ABBA01065307;ABBA01065308;AI286110;AL360089;AL691508;AMYH02019186;AW070422;CH471071;HG501900;NR_038194 EAW58702 Hs.149786 C9orf146 APPROVED ncrna ENSG00000205636 HGNC:31437 PREDICTED 5686448 LINC00537 long intergenic non-protein coding RNA 537 INTERACTS WITH valproic acid 9 q21.11 68408723 68414763 + 6480464 12477932;16344560 203274 AL117607;BC080605;BC110369;CR786580;DA696519;DB323297;XR_246700;XR_252564 Hs.599821;Hs.741091;Hs.741916 uncharacterized protein LOC203274 ncrna HGNC:43654 1606806 LINC00588 long intergenic non-protein coding RNA 588 INTERACTS WITH benzo[a]pyrene 8 8 8 q12.1 54185577 54190765 + 58192102 58197290 + 57279543 57284731 + 6480464 11230166;12477932 26138 Q9Y4M8 ABBA01041779;AC025674;AL080200;AMYH02018026;BC125038;CH471068;HG501206;NR_026772 CAB45772;EAW86797;Q9Y4M8 Hs.159352 C8orf71;DKFZp434F122 APPROVED ncrna ENSG00000215117 HGNC:24494 PREDICTED 1602606 LINC00589 long intergenic non-protein coding RNA 589 8 8 8 p12 28538481 28565284 - 29578775 29605625 - 29721259 29748109 - 12477932 619351 Q9BTQ3 ABBA01005625;AC069181;AC137741;AMYH02017705;BC003524;BC014230;HG501015;NR_026765 AAH03524 Hs.566911 1734128;2112308 D8S1219;D8S2271 C8orf75 APPROVED ncrna ENSG00000251191 HGNC:32299 PREDICTED 6482980 LINC00592 long intergenic non-protein coding RNA 592 12 12 12 q13.13 51407157 51420044 + 52604714 52617597 + 52210930 52223813 + 12477932 283404 ABBA01031628;AC021066;AMYH02026499;BC039104;HG504772;NR_027358 Hs.662443 1336494 D12S297 ncrna ENSG00000258279 HGNC:27474 PREDICTED 1603141 LINC00593 long intergenic non-protein coding RNA 593 ASSOCIATED WITH Lung Neoplasms (inferred) 15 15 15 q23 47016994 47024730 + 70127573 70135306 + 69835234 69842967 + 8554872 12477932 414926 ABBA01038764;ABBA01038765;AC021818;AMYH02030704;BC031958;HG507188;HG507189;NR_026764 Hs.569502 C15orf50;MGC42951;RP11-19J5.3 APPROVED ncrna ENSG00000259703 HGNC:32382 PREDICTED 6482930 LINC00594 long intergenic non-protein coding RNA 594 q15.1 641314 AI278850 Hs.525794 C15orf36 protein-coding HGNC:32358 1344061 LINC00595 long intergenic non-protein coding RNA 595 q22.3 16341674 414243 AA256890;BQ070817;BQ082446 Hs.55047 C10orf101 APPROVED protein-coding HGNC:31430 1346815 LINC00596 long intergenic non-protein coding RNA 596 FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin 14 14 q11.2 4254157 4266413 - 24391456 24403777 - 414767 Q86U02 AL136419;BX161431;NR_024081 CAD61903;Q86U02 2169379 D14S921 C14orf165;CNSLT1I7G APPROVED ncrna HGNC:23167 18533 1348126 LINC00597 long intergenic non-protein coding RNA 597 INTERACTS WITH copper(2+) sulfate; paracetamol; quinolin-8-ol 15 15 15 q23-q24 54454374 54455885 - 77516235 77517746 - 77223893 77225404 - 6480464 11697146;12477932;15489334 81698 Q9H2U6 ABBA01060563;AC087465;AF216224;AL109679;AMYH02030850;BC069765;BC103988;BC103989;BC103990;BC103991;CH471136;NG_034037;NR_026813 AAG44088;CAB52019;EAW99205;Q9H2U6 Hs.656938 2141515;5493545 UniSTS:487126;WI-17323 C15orf5;MGC120146;MGC120147;MGC120148;MGC120149 APPROVED ncrna HGNC:1193 12672 VALIDATED 6482877 LINC00598 long intergenic non-protein coding RNA 598 13 13 13 q14.11 21978763 22112599 - 40921269 41055143 - 40347132 40481006 - 12764377;20889312;21297633;23128233 646982 Q8NEU3 ABBA01021297;ABBA01021298;ABBA01021299;AK025090;AL391724;AL445143;AMYH02027905;AY116214;AY116215;AY116216;HG505558;KF455765;LK938489;NR_024505;NR_024506;NR_024507 AAM97780;AAM97781;AAM97782 Hs.287664 1670153;1683102;1733292;1749609;1779446;5015861;7185938 D10S16;D13S648;RH70375;RH93071;SHGC-111293;SHGC-153427 FLJ21437;RP11-350A18.1;TTL ncrna ENSG00000215483 HGNC:42770 VALIDATED 7175175 LINC00601 long intergenic non-protein coding RNA 601 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 q26.2 128102438 128110448 - 126413869 126421879 - 8554872 101101772 ABBA01034179;AL589787;AMYH02024004;BF215388;HG503353;NR_073453 Hs.562258 RP11-422P15.3 ncrna ENSG00000235180 HGNC:43916 VALIDATED 5489087 LINC00577 long intergenic non-protein coding RNA 577 6 6 q21 105384169 105388402 - 104936294 104940527 - 100113403 ABBA01014403;AL135911;AL357315;AMYH02014221;BF223582;HG499478;NR_046407 Hs.649249 C6orf220;RP3-439I14.1;dJ439I14.1 chromosome 6 open reading frame 220 APPROVED ncrna ENSG00000203809 HGNC:21553 VALIDATED 1351537 LINC00587 long intergenic non-protein coding RNA 587 ASSOCIATED WITH Lung Neoplasms (inferred) 9 9 q31.1 105309646 105419791 + 102547364 102657509 + 8554872 11181995;12477932 414319 B1AMM8 ABBA01042857;ABBA01042858;ABBA01042859;ABBA01042860;AL354701;AL442644;AMYH02021361;AMYH02021362;BC038565;CH471105;HG502320;NR_103830 B1AMM8;EAW58965 Hs.385790 C9orf107;bA785H23.1 APPROVED ncrna HGNC:31372 VALIDATED 6482932 LINC00599 long intergenic non-protein coding RNA 599 8 8 8 p23.1 8883917 8887182 - 9757574 9760839 - 9900064 9903329 - 14702039;15146197;16344560;8619474;9110174 157627 ABBA01026897;AC055869;AF052108;AK055056;AK091593;AL832535;AMYH02017422;BC042097;CN430287;DA113430;DA155571;HG500872;HG500873;NR_024281 Hs.12513 1656459;1657503;1711414;1789054;2116928;2129438;2141829;2147241;5090966;5092964 A009D10;G32440;G42191;G65662;IB1679;RH78832;SHGC-31177;STS-AA001426;STS-H56495;WI-20494 RP11-403C10.2;Rncr3 ncrna ENSG00000253230 HGNC:27231 VALIDATED 1602791 LINC00602 long intergenic non-protein coding RNA 602 6 6 6 q27 167140577 167142641 + 166401039 166403103 + 165987551 165989615 + 12477932;14702039;20800603 441177 Q8N9P0 ABBA01015078;AK094116;AL132661;AMYH02014958;BC110806;NR_027284 BAC04291;Q8N9P0 Hs.708964 MGC131672 APPROVED ncrna HGNC:43917 18645 VALIDATED 6769317 LINC00605 long intergenic non-protein coding RNA 605 14 14 14 q32.32 83707673 83709480 - 103653558 103655365 - 103187221 103189028 - 12477932 100131366 ABBA01048434;AL161669;AMYH02029918;BC035396;BX161461;HG506672;NR_033938 CAD61922 Hs.147881 RP11-736N17.2 ncrna ENSG00000251533 HGNC:43928 VALIDATED 6769001 LINC00606 long intergenic non-protein coding RNA 606 3 3 3 p25.3 10736625 10741333 - 10801169 10805877 - 10759484 10764192 - 14702039 285370 ABBA01025231;AC018495;AI494446;AK093398;AMYH02006259;HG495487;NR_027102 Hs.157613 AC018495.2 ncrna ENSG00000226567 HGNC:43931 PREDICTED 6769610 LINC00607 long intergenic non-protein coding RNA 607 2 2 2 q35 210245866 210477695 - 216476286 216708259 - 215611563 215843536 - 14702039 646324 ABBA01062796;ABBA01062797;ABBA01062798;ABBA01062799;ABBA01062800;AC012668;AC093850;AC122136;AK091865;AK124897;AMYH02005750;AMYH02005751;HG495204;HG495205;HG495207;HG495209;KF454883;KF454897;KF456771;KF459844;KF459845;KF459847;KF459848;KF459849;KF459850;KF459852;NR_037195 Hs.655713 1342156;1674583;1722541;1727319;1749521;1756535;1760719;1777090;2124578;2143604;5037552;5093778 D2S2361;D8S2279;G32917;G60197;G63067;RH78890;SHGC-111225;SHGC-143565;SHGC-144248;SHGC-33388;STS-AA035344;STS-T95030 AC122136.1 ncrna ENSG00000235770 HGNC:43944 VALIDATED 6769829 LINC00608 long intergenic non-protein coding RNA 608 2 2 2 q35 213610719 213612357 + 219841006 219842644 + 218976284 218977922 + 12477932;22542470 151300 ABBA01023853;AC097468;AI125183;AK098539;AMYH02005811;BC033552;BC049373;BC121084;BC121085;CH471063;NR_015390;NR_024385 EAW70663 Hs.420716 5015961;5016596;5016781;5022578;5037552;5109281;5120437 D15S1477;D1S1423;D1S1425;D8S2279;GDB:315881;GDB:631802;SHGC-67307 ncrna HGNC:27179 VALIDATED 6484192 LINC00613 long intergenic non-protein coding RNA 613 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 136788138 136834835 - 135866983 135913680 - 8554872 11329013 100507528 ABBA01044894;AC104136;AC105362;AMYH02010156;AMYH02010157;AW237894;BG204498;BG220241;HG497282;HG497283;NR_103762;NR_103763 Hs.518987;Hs.730081 1726753 G62764 RP11-782E2.1 ncrna ENSG00000248330 HGNC:44060 VALIDATED 1349008 LINC00614 long intergenic non-protein coding RNA 614 ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN metabolic process (inferred) 10 p12.1 27295734 27300833 - 14702039;15164054;16344560 645587 P0C842 AL044322;AL365501;DB025290;XM_928603 P0C842;XP_933696 C10orf52;FLJ35853 Putative uncharacterized protein C10orf52;chromosome 10 open reading frame 52 APPROVED ncrna ENSG00000236983 HGNC:30165 1602615 LINC00615 long intergenic non-protein coding RNA 615 12 12 12 q21.33 90982930 91013575 + 91311800 91342446 + 90918023 90948669 + 439916 Q96LM1 ABBA01053409;AC078873;AC123024;AC123025;AK058107;AMYH02026915;HG505066;NR_038868 BAB71669;Q96LM1 Hs.350600 1746615 G64429 C12orf37;FLJ25378;RP11-916O13.1 APPROVED ncrna ENSG00000196243 HGNC:26343 VALIDATED 6484073 LINC00616 long intergenic non-protein coding RNA 616 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 q28.3 138948576 139051839 - 138027422 138130685 - 8554872 12477932 641365 ABBA01044911;ABBA01044912;ABBA01044913;AC097511;AC105310;AMYH02010177;AMYH02010178;BC042886;HG497295;HG497296;HG497298;HG497299;NR_037866 Hs.435630 1674394;2164832 D4S1139;SHGC-51032 RP11-8P17.1 ncrna ENSG00000248307 HGNC:44065 VALIDATED 1344034 LINC00619 long intergenic non-protein coding RNA 619 10 10 10 q11.21 40344330 40349646 + 44340754 44346070 + 43845306 43850622 + 12477932;17634449 414260 ABBA01050014;AL139237;AMYH02022717;AMYH02022718;BC017939;HG502845;NR_033923 Hs.351856 C10orf136;bA168P8.1 APPROVED ncrna ENSG00000204187 HGNC:31657 VALIDATED 7175177 LINC00609 long intergenic non-protein coding RNA 609 14 14 q13.2-q13.3 36539633 36634494 + 36070427 36165288 + 23408906 101101773 ABBA01061518;ABBA01061519;ABBA01061520;AL133304;AL162511;AMYH02029018;AMYH02029019;AMYH02029020;DN993271;HG506103;NR_073454 Hs.640678 RP11-259K15.3 ncrna ENSG00000257585 HGNC:43960 VALIDATED 6771241 LINC00620 long intergenic non-protein coding RNA 620 3 3 3 p25.1 13630484 13726447 + 13692221 13788132 + 13650721 13746635 + 21368711;23092984;23478628 285375 ABBA01025168;ABBA01025169;AC090509;AC093611;AMYH02006315;BC039529;HG495496;HG495497;KF457598;KF573664;KF573665;KF573669;KF573709;NR_027103 Hs.319969 1335788;1731355;2139616 D3S100;D3S3608;WI-10346 AC093611.1 ncrna ENSG00000224514 HGNC:44223 PREDICTED 4108161 LINC00612 long intergenic non-protein coding RNA 612 12 12 12 p13.31 10745541 10754795 - 9208185 9217666 - 9055589 9065070 - 6480464 12477932;15489334 253128 Q8N6U2 ABBA01012257;AC007436;AK123808;AMYH02025997;BC028195;CH471116;NR_034140 AAH28195;BAG53963;EAW88592;Q8N6U2 Hs.408739 C12orf33;FLJ41814;MGC40170 APPROVED ncrna ENSG00000214851 HGNC:28621 PREDICTED 1350937 LINC00618 long intergenic non-protein coding RNA 618 14 14 q32.31 97409859 97411727 + 96943579 96945394 + 8889549 145249 ABBA01048581;AL133168;AMYH02029810;HG506538;HG506539;NR_104113 Hs.592323 AL133168.2;C14orf63 APPROVED ncrna ENSG00000225163 HGNC:20110 VALIDATED 7422523 LINC00603 long intergenic non-protein coding RNA 603 5 p13.1 40052291 40053324 + 11329013 102467077 ABBA01024215;AC116363;AMYH02011206;BX100325;NR_104633 Hs.148993 ncrna ENSG00000250048 HGNC:43918 VALIDATED 6777744 LINC00621 long intergenic non-protein coding RNA 621 q12.12 14702039;16344560 100996930 AK091626;DA752665 Hs.380803 5015621;5037552 D11S3732;D8S2279 ncrna HGNC:44227 6893158 LINC00629 long intergenic non-protein coding RNA 629 X X X 134070873 134081247 + 133684054 133694428 + 134550024 134560398 + 10737800;14702039 100506757 ABBA01042455;ABBA01042456;AC004383;AK022994;AMYH02040528;HG512696;NR_038998 Hs.130961 1694116;1748193;1787244 AL035144;G66695;SHGC-132957 AC004383.5 ncrna HGNC:44262 VALIDATED 6778972 LINC00622 long intergenic non-protein coding RNA 622 INTERACTS WITH valproic acid 1 1 1 p12 118333652 118335241 - 120140325 120141914 - 119597702 119599291 - 6480464 12477932;14702039 644242 AI791995;AK123168;AL109966;AMYH02001817;BC015390;BQ433915;NR_036540 AAH15390 Hs.515383 ncrna ENSG00000260941 HGNC:44251 VALIDATED 6893037 LINC00630 long intergenic non-protein coding RNA 630 X X X q22.1 102463143 102579373 + 102024095 102165843 + 102769167 102885410 + 12477932;16344560 100287765 AA679735;ABBA01020969;ABBA01020970;ABBA01020971;ABBA01020972;ABBA01020973;ABBA01020974;ABBA01020975;ABBA01020976;ABBA01020977;ABBA01020978;ABBA01020979;ABBA01020980;ABBA01020981;ABBA01020982;ABBA01020983;ABBA01020984;AL035427;AL590407;AMYH02040161;AMYH02040162;BC032741;BC040959;DA332880;HG512633;HG512634;HG512635;HG512636;HG512638;HG512639;NR_038988;Z68871 Hs.687084 1683677;1856661;2127750;2177756 A008Q11;DXS7692;L47999;RH93084 LL0XNC01-157D4.1;LL0XNC01-237H1.2 ncrna ENSG00000223546 HGNC:44263 VALIDATED 6781867 LINC00623 long intergenic non-protein coding RNA 623 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin 1 1 1 q21.1 503 1537 - 144300512 144340773 - 120913203 120953463 + 6480464 12477932;16341674;16344560 728855 ABBA01016531;AC241377;AK311378;AL592284;BC009950;BC063535;BC089397;BC094809;BE890886;BM761975;BX248398;DA488546;LK938611;LK938615;NR_024510;NR_024511;NR_024584;NR_109754;XR_426752;XR_431230 Hs.456578;Hs.662922 5015567;5106900 D1S3595;G34841 CH17-118O6.2 ncrna ENSG00000226067 HGNC:44252 VALIDATED 6892816 LINC00634 long intergenic non-protein coding RNA 634 22 22 22 q13.2 26154414 26161168 + 42348191 42354946 + 41952187 41958942 + 12477932;15461802 339674 ABBA01055657;AMYH02038449;AMYH02038450;BC040153;BC068568;CR456401;NR_024355;Z99716 CAG30287 Hs.517656 BK250D10.8 ncrna ENSG00000205704 HGNC:27930 VALIDATED 7254644 LINC00632 long intergenic non-protein coding RNA 632 INTERACTS WITH valproic acid X X X q27.1 140161241 140170752 + 139791924 139855124 + 140709759 140772677 + 6480464 10737800;14702039;16344560;24833871 286411 ABBA01023122;ABBA01066180;ABBA01066181;AK054978;AL078639;AL121875;AL137016;AL844175;AMYH02040628;AMYH02040629;AMYH02040630;BM811380;BQ343502;BX508035;DA082671;DA128399;DA247186;DA529197;DB307877;KF459433;LK937821;LK937822;NR_028344;NR_028345;NR_104228 Hs.317627 5022322;5037552 D11S2560;D8S2279 RP1-177G6.2 ncrna ENSG00000203930 HGNC:27865 VALIDATED 6776596 LINC00626 long intergenic non-protein coding RNA 626 1 1 1 q24.2 141865988 141871935 + 168756179 168762126 + 168786941 168792888 + 12477932 79100 ABBA01027957;AL031275;AMYH02002110;AMYH02002111;BC001515;BC001841;BC009319;BC068047;BC082964;HG492904;NR_024160 Hs.250624 RP1-10C16.2 ncrna ENSG00000225826 HGNC:44257 VALIDATED 6892971 LINC00633 long intergenic non-protein coding RNA 633 ASSOCIATED WITH Melanoma (inferred) X X X q26.3 134770006 134771528 + 134252881 134254405 - 135118955 135120477 - 8554872 100129515 AC234771;AI015085;AL590325;AMYH02040539;AY730280;HG512703;NR_033941 AAW56973 Hs.522790 5019120 RH102075 RP11-85L21.3 ncrna ENSG00000224107 HGNC:44269 VALIDATED 6892845 LINC00638 long intergenic non-protein coding RNA 638 14 14 14 q32.33 85341878 85344395 + 105287538 105290055 + 104821201 104823718 + 12477932;14702039 196872 ABBA01008842;AK095404;AK292179;AL590326;AMYH02029952;BC015579;BC041036;CH471061;NR_024396 BAF84868;EAW81884 Hs.352220 ncrna ENSG00000258701 HGNC:28325 VALIDATED 6778362 LINC00624 long intergenic non-protein coding RNA 624 1 1 q21.1 146853914 146989699 - 147382192 147517875 - 12477932;18464913;24324551 100289211 ABBA01004399;ABBA01004400;ABBA01004401;AC242425;AC242628;AL391904;AL590667;BC036212;BC048126;HG492678;LK938624;NR_038423 Hs.323484 1660365;1693450;1696654 SHGC-58830;SHGC-60299;SHGC-82962 RP11-441L11.1 ncrna ENSG00000278811 HGNC:44254 VALIDATED 6892749 LINC00635 long intergenic non-protein coding RNA 635 3 3 3 q13.12 105956922 105993324 - 107560509 107596915 - 107841662 107878068 - 12477932 151658 ABBA01061708;AC117477;AMYH02007391;AMYH02007392;BC039365;BC045586;BC101990;BC101991;BC104745;BC104746;BC113056;BC113057;DB527077;HG495885;HG495886;HG495887;HG495888;HG495889;HG495890;HG495891;HG495892;HG495893;HG495896;HG495897;HG495898;HG495900;NR_015414;NR_024276 Hs.159043 1682469;1767849 RH93695;SHGC-14920 RP11-631B21.1 ncrna ENSG00000241469 HGNC:27184 VALIDATED 6892848 LINC00636 long intergenic non-protein coding RNA 636 3 3 3 q13.12 106039035 106044314 + 107602052 107647754 + 107883205 107928907 + 12477932;14702039 285205 ABBA01061707;ABBA01061708;AC027296;AC117477;AK127985;AMYH02007392;BC039517;BC101228;BC101229;BC101230;BC101231;HG495907;NR_015394 Hs.134882;Hs.737218 1727651 G63238 ncrna ENSG00000240423 HGNC:27702 VALIDATED 6892824 LINC00642 long intergenic non-protein coding RNA 642 14 14 14 q32.12 70968689 70972364 + 90921574 90925249 + 90455230 90458905 + 12477932;14702039 400238 ABBA01030501;AK093266;AL096869;AMYH02029727;BC036259;BX101323;HG506478;NR_033986 Hs.131037 AL096869.5 ncrna ENSG00000233208 HGNC:44293 VALIDATED 6784183 LINC00628 long intergenic non-protein coding RNA 628 1 1 1 q32.1 177472992 177474281 - 204337558 204338847 - 204368430 204369719 - 12477932 127841 ABBA01027447;AL606489;AMYH02002534;BC015457;NR_027022 Hs.213144 ncrna HGNC:27008 VALIDATED 6892745 LINC00637 long intergenic non-protein coding RNA 637 14 14 14 q32.33 84374895 84377107 + 104314058 104324386 + 103847721 103858049 + 12477932 145216 ABBA01048401;AK057986;AL132712;AMYH02029931;BC112204;BC112206;HG506682;NR_038436 Hs.578091 5015861;5015961;5020948;5037552;7185938 D10S16;D15S1477;D8S2279;G35510 ncrna ENSG00000258735 HGNC:27069 VALIDATED 6892810 LINC00643 long intergenic non-protein coding RNA 643 14 14 14 q23.2 42634535 42645592 + 62583849 62600904 + 62117357 62134186 + 12477932;14702039 646113 Q86TS7 ABBA01018306;AK094533;AK096461;AK125380;AK311468;AL390816;AMYH02029320;BC047065;BC132999;BC133001;BX248751;HG506296;LN608527;LN608528;NR_015358 CAD66558;Q86TS7 Hs.445241 1681062;1723177;1736468;2135945 D14S719E;RH118420;RH47362;RH93124 RP11-355I22.3 ncrna HGNC:44296 VALIDATED 7251231 LINC00644 long intergenic non-protein coding RNA 644 ASSOCIATED WITH Lung Neoplasms (inferred) 14 q23.2 62134149 62139973 - 8554872 101954204 ABBA01018306;AL390816;AMYH02029320;AW292481;BE502538;NR_104063 Hs.607093;Hs.741940 ncrna ENSG00000259142 HGNC:44297 VALIDATED 6892896 LINC00641 long intergenic non-protein coding RNA 641 14 14 q11.2 21668238 21675059 - 21200079 21206900 - 12477932;14702039;16344560 283624 ABBA01061240;AK092333;AK093962;AL135744;AL157687;AMYH02028830;BC035145;BX537733;DA323457;NR_038970;NR_038971 Hs.525210 1675118;2185305 RH69515;RH69598 ncrna ENSG00000258441 HGNC:27511 VALIDATED 6892879 LINC00639 long intergenic non-protein coding RNA 639 14 14 14 q21.1 19082993 19250556 - 39218543 39386086 - 38749339 38916882 - 12477932 283547 ABBA01061540;ABBA01061541;AK125018;AK127318;AL132994;AL359950;AL391694;AMYH02029048;BC035119;BC113646;BC113672;HG506121;HG506122;HG506123;KF455857;KF455863;NR_039982 Hs.675941 1851152;2141213 D14S1428;G35463 RP11-566K8.2 ncrna ENSG00000259070 HGNC:27502 VALIDATED 6892886 LINC00640 long intergenic non-protein coding RNA 640 14 14 14 q22.1 31667092 31699256 + 51800111 51832275 + 51333393 51365557 + 11329013 283553 ABBA01018152;AL358332;AMYH02029180;BG198945;BG220842;BX111479;HG506196;HG506197;KF455887;NR_038358 Hs.325752 1756429 SHGC-143414 RP11-255G12.1 ncrna ENSG00000258479 HGNC:44291 VALIDATED 6893153 LINC00648 long intergenic non-protein coding RNA 648 14 14 48234156 48264217 - 47764953 47795014 - 14702039 100506433 ABBA01018096;AK056212;AK056240;AL162551;AMYH02029128;CA435241;HG506165;NR_039996 Hs.547419 1667643;2128197;2172452;5093728 G32889;G36242;RH66200;SHGC-34775 RP11-479H16.1 ncrna ENSG00000259129 HGNC:44302 VALIDATED 2303690 LINC00652 long intergenic non-protein coding RNA 652 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH all-trans-retinoic acid; arsenous acid; diarsenic trioxide 20 20 20 p11.23 18842898 18849505 - 18768615 18775228 - 18787971 18794584 - 6480464;8554872 11042152;12477932;14702039;16344560 29075 Q9NZW7 ABBA01054055;AF161557;AK094606;AL035563;AMYH02036785;BC029555;BC102038;BC102039;BC102040;CH471133;DA760399;DB097906;HG511223;HG511224;HG511225;NR_026883;NR_026884 AAF29044;EAX10225;EAX10226 Hs.584899 1688602;2115280 RH68013;RH93547 HSPC072;RP5-1068E13.3 APPROVED ncrna HGNC:25003 13693 VALIDATED 6892865 LINC00654 long intergenic non-protein coding RNA 654 20 20 20 p12.3 5550059 5556083 - 5479218 5485242 - 5498572 5504596 - 12477932;19204726 149837 ABBA01053880;AK289970;AK291486;AK292266;AL109935;AL137476;AMYH02036641;BC067900;BC117492;BC117494;NR_015406 BAF82659;BAF84175;BAF84955 Hs.123609;Hs.709473 2118424;2183996 A008V36;RH12029 ncrna HGNC:27154 VALIDATED 6893148 LINC00649 long intergenic non-protein coding RNA 649 21 21 35303516 35343487 + 33931212 33971186 + 16344560 100506334 ABBA01057363;AK311545;AL532366;AMYH02037749;AMYH02037750;AMYH02037751;AP000314;AP000569;DA374118;HG511749;HG511751;KF511400;KF511401;KF511402;NR_038883 Hs.532855 1340227;1798672;1801024;1801912;1804192;1807020;1807274;1808732;1817280;1817728;1819644;1821186;1823120;1824088;1826956;1826958;1835256;1836584;1837300;1837810;1838422;1838528;1839526;1841324;1841436;1841490;1841976;1843270;1845018;1845652;2032510;2032512;2032514;2032516;2032518;2032520;2032522;2032524;2032526;2032528;2032530;2032532;2032534;2032536;2032538;2032540;2032542;2032544;2032546;2032550;2032552;2032554;2032556;2032558;2032560;2032562;2032566;2032568;2032570;2032572;2032574;2032576;2032578;2032580;2032584;2032586;2032588;2032590;2032592;2032594;2032596;2032598;2032600;2032602;2032604;2032606;2032608;2032610;2032612;2032614;2032616;2032618;2032620;2032624;2032626;2032628;2032630;2032632;2032634;2032636;2032640;2032642;2032644;2032646;2032648;2032650;2032652;2032654;2032658;2032660;2032662;2032664;2032666;2032668;2032670;2032674;2032676;2032678;2032680;2032682;2032684;2032686;2032688;2032690;2032692;2032694;2032696;2032700;2032702;2032704;2032706;2032708;2032710;2032712;2032716;2032718;2032720;2032722;2032724;2032726;2032728;2032732;2032736;2032738;2032740;2032742;2032744;2032746;2032750;2032752;2032754;2032756;2032758;2032760;2032762;2032764;2032766;2032768;2032770;2032772;2032774;2032776;2032778;2032780;2032782;2032784;2032786;2032788;2032790;2032792;2032794;2032796;2032798;2032800;2032802;2032806;2032808;2032810;2032812;2032814;2032816;2032818;2032820;2032822;2032826;2032828;2032830;2032832;2032834;2032836;2032838;2032842;2032844;2032846;2032848 D1S2782;ECD00176;ECD01378;ECD01837;ECD03016;ECD04475;ECD04605;ECD05348;ECD09690;ECD09917;ECD10889;ECD11670;ECD12648;ECD13140;ECD14593;ECD14594;ECD18783;ECD19456;ECD19817;ECD20075;ECD20385;ECD20438;ECD20945;ECD21858;ECD21914;ECD21941;ECD22191;ECD22843;ECD23725;ECD24044;REN87262;REN87263;REN87264;REN87265;REN87266;REN87267;REN87268;REN87269;REN87270;REN87271;REN87272;REN87273;REN87274;REN87275;REN87276;REN87277;REN87278;REN87279;REN87280;REN87282;REN87283;REN87284;REN87285;REN87286;REN87287;REN87288;REN87290;REN87291;REN87292;REN87293;REN87294;REN87295;REN87296;REN87297;REN87299;REN87300;REN87301;REN87302;REN87303;REN87304;REN87305;REN87306;REN87307;REN87308;REN87309;REN87310;REN87311;REN87312;REN87313;REN87314;REN87315;REN87316;REN87317;REN87319;REN87320;REN87321;REN87322;REN87323;REN87324;REN87325;REN87327;REN87328;REN87329;REN87330;REN87331;REN87332;REN87333;REN87334;REN87336;REN87337;REN87338;REN87339;REN87340;REN87341;REN87342;REN87344;REN87345;REN87346;REN87347;REN87348;REN87349;REN87350;REN87351;REN87352;REN87353;REN87354;REN87355;REN87357;REN87358;REN87359;REN87360;REN87361;REN87362;REN87363;REN87365;REN87366;REN87367;REN87368;REN87369;REN87370;REN87371;REN87373;REN87375;REN87376;REN87377;REN87378;REN87379;REN87380;REN87382;REN87383;REN87384;REN87385;REN87386;REN87387;REN87388;REN87389;REN87390;REN87391;REN87392;REN87393;REN87394;REN87395;REN87396;REN87397;REN87398;REN87399;REN87400;REN87401;REN87402;REN87403;REN87404;REN87405;REN87406;REN87407;REN87408;REN87410;REN87411;REN87412;REN87413;REN87414;REN87415;REN87416;REN87417;REN87418;REN87420;REN87421;REN87422;REN87423;REN87424;REN87425;REN87426;REN87428;REN87429;REN87430;REN87431 ncrna HGNC:44305 VALIDATED 6893141 LINC00645 long intergenic non-protein coding RNA 645 14 14 14 7947355 7974403 + 28081794 28108842 + 27612588 27639636 + 100505967 ABBA01061369;AL390894;AMYH02028912;BC042069;BX538073;BX538140;HG506048;HG506049;KF455842;NR_039992 Hs.668484 RP11-572M18.1 ncrna ENSG00000258548 HGNC:44299 VALIDATED 6893101 LINC00659 long intergenic non-protein coding RNA 659 20 20 61404590 61408208 - 62774121 62776856 - 12477932;16341674;16344560 100652730 ABBA01021369;AL035669;AMYH02037438;BC127851;BC127852;BM850706;DA633805;DB320598;HG511529;NR_046224;NR_046225 Hs.254951 RP5-885L7.10 ncrna HGNC:44316 VALIDATED 6893053 LINC00662 long intergenic non-protein coding RNA 662 19 19 19 q11 24981666 24985112 - 28281401 28284848 - 27790493 27793940 - 12477932;14702039 148189 ABBA01039519;AC006504;AK055559;AK311452;AMYH02035858;BC045720;HG510552;NR_027301 Hs.706547 5015619 D11S3114 ncrna ENSG00000261824 HGNC:27122 VALIDATED 4108223 LINC00656 long intergenic non-protein coding RNA 656 20 20 20 p11.21 23179076 23186646 - 23105705 23113273 - 23125068 23132636 - 12477932;16344560 200261 Q8WY72 ABBA01016174;AF258576;AL118508;AMYH02036831;BC117361;CA748604;CH471133;DA864592;HG511262;NR_034149 AAG23779;AAI17362;EAX10167 Hs.352228 1775120;2220612 UniSTS:485803;Z94530 RP4-737E23.4 APPROVED ncrna ENSG00000233746 HGNC:27304 14124 VALIDATED 6892893 LINC00657 long intergenic non-protein coding RNA 657 20 20 20 q11.23 31381527 31387645 - 34633540 34638882 - 36045618 36050960 - 12477932;14702039 647979 ABBA01019130;AI619767;AK090641;AL035420;AMYH02037012;BC011592;NR_027451 Hs.743232 1777173 RH11841 ncrna ENSG00000260032 HGNC:44311 VALIDATED 2303664 LINC00661 long intergenic non-protein coding RNA 661 19 19 19 p13.12 16025874 16037703 + 16126444 16138272 + 16015634 16027462 + 11441184;12477932;16751776 126536 Q6ZRG2 ABBA01051127;AC004790;AI184190;AK128240;AMYH02035666;BC043535;BC117476;BC128560;BC144048;CR749400;DQ574520;DQ574656;DQ579909;DQ579910;DQ580536;DQ585852;DQ586879;DQ591119;NR_026828 BAC87348 Hs.131824 1699772 RH103492 DKFZp434N1114;DKFZp686O2439 APPROVED ncrna HGNC:27002 18725 VALIDATED 6893203 LINC00658 long intergenic non-protein coding RNA 658 20 20 20 5482682 5496422 - 5412603 5426394 - 5431957 5445748 - 12477932 100507629 AA983844;ABBA01053880;AL121757;AMYH02036640;BC035192;BC048109;HG511145;HG511147;HG511148;HG511149;NR_038239;NR_038240 Hs.121383 RP5-828H9.3 ncrna ENSG00000226995 HGNC:44315 VALIDATED 6893164 LINC00665 long intergenic non-protein coding RNA 665 19 19 q13.12 36803963 36822620 - 36313061 36331718 - 12477932;14702039 100506930 ABBA01016208;AC092296;AI282277;AK090827;AMYH02036012;BC041949;BU071001;HG510707;HG510708;HG510709;HG510711;HG510712;NR_038278;NR_038279 Hs.595153 1679259;1681002;1731369;2172162;5016700;7184802 D18S21;RH79802;RH91190;RH93026;STS-N95430 AC092296.1 ncrna ENSG00000232677 HGNC:44323 VALIDATED 6893076 LINC00668 long intergenic non-protein coding RNA 668 18 18 18 p11.31 6810858 6815253 - 6919275 6929868 - 6925474 6929869 - 12477932;14702039 400643 ABBA01049901;AK095347;AK097613;AMYH02034259;AP005210;BC035413;CH471113;HG509711;HG509712;HG509713;HG509714;HG509715;HG509716;NR_034100 EAX01632 Hs.253920 RP11-146G7.3 ncrna ENSG00000265933 HGNC:44328 VALIDATED 6893089 LINC00667 long intergenic non-protein coding RNA 667 18 18 18 p11.31 5122528 5130937 + 5238041 5246507 + 5238100 5246508 + 12477932;14702039;8619474;9110174 339290 ABBA01049876;AMYH02034241;AP001496;BC027873;BC119664;BC119665;HG509689;HG509692;NR_015389 AAI19666 Hs.643553;Hs.727464 1339551;1652823;1664085;1719737;1720961;1739197;1772885;1851819;2141333;2161827;2170294;2184244;5092822;5109563 A003M05;A004A03;A006G41;D18S1014;D18S915E;D7S509;G32351;G59310;RH123559;RH78881;SHGC-32059;SHGC-36686;WI-18527;WI-21034 RP11-835E18.2 ncrna ENSG00000263753 HGNC:27906 VALIDATED 6892982 LINC00663 long intergenic non-protein coding RNA 663 INTERACTS WITH valproic acid 19 19 19 p13.11 19772542 19792611 - 19867180 19887222 - 19756371 19776413 - 6480464 12477932;14702039;16189514;16344560;21509594;21832049 284440 ABBA01051339;ABBA01051340;ABBA01051341;AC011477;AK022418;AK289657;AMYH02035764;AMYH02035765;BC034236;BC037856;CH471106;DB196080;HG510472;HG510473;HG510474;HG510475;NR_026956 BAF82346;EAW84859 Hs.665307 1645541;2178863;5016700;5037552;5109281 D1S1425;D8S2279;G12418;G30605;RH79802 ncrna HGNC:28609 VALIDATED 6893070 LINC00669 long intergenic non-protein coding RNA 669 ASSOCIATED WITH Lung Neoplasms (inferred) 18 18 18 q12.2-q12.3 33599454 34143492 - 36786888 37331959 - 39206924 39751995 - 8554872 11329013;12477932;14702039;16344560;23251661 647946 ABBA01022392;ABBA01022393;ABBA01022394;ABBA01022395;ABBA01022396;ABBA01022397;ABBA01022398;ABBA01022399;ABBA01022400;ABBA01022401;ABBA01022402;AC011139;AC016205;AC090459;AC099845;AC105201;AK090603;AMYH02034584;AMYH02034585;AMYH02034586;AMYH02034587;AMYH02034588;AMYH02034589;AMYH02034590;AMYH02034591;BC035184;BG220862;DB038664;HG509935;KF456376;KF456380;NR_024391 Hs.649350 1680859;1688646;1705062;1706376;1712813;1718363;1720457;1723347;1728517;1776115;2081030;2142047;2153296 D18S1322;D18S840;G09473;G59181;G63696;REN111723;RH118490;RH120122;RH122954;RH98591;RH99208;SHGC-78051;SHGC-80757 RP11-244M2.1 ncrna ENSG00000267374 HGNC:44332 VALIDATED 6893228 LINC00672 long intergenic non-protein coding RNA 672 17 17 37081421 37085637 + 38925168 38929384 + 12477932;14702039 100505576 ABBA01031894;AC006441;AK090935;AMYH02033367;BC009632;BC042124;BQ007373;BX114764;BY995895;NR_038847 Hs.634043 5015861;5019070;5020242;5022578;5037552;7185938 D10S16;D11S2612;D1S1423;D8S2279;G44334 ncrna HGNC:44353 VALIDATED 4108252 LINC00670 long intergenic non-protein coding RNA 670 ASSOCIATED WITH Lung Neoplasms (inferred) 17 17 17 p12 12478677 12565885 + 12126155 12540504 + 12549968 12637187 + 8554872 12477932;14702039;16344560 284034 Q8NAV9 ABBA01055003;ABBA01055004;ABBA01055005;ABBA01055006;AC005358;AC006079;AC068442;AK092009;AMYH02033008;AMYH02033009;AMYH02033010;BC122562;BC122870;DB255288;HG508690;HG508691;NR_034144;NR_034145 BAC03788 Hs.376614 1647812;1719727 D17S1311;RH123553 APPROVED ncrna ENSG00000179136 HGNC:44338 08176 VALIDATED 7244844 LINC00664 long intergenic non-protein coding RNA 664 19 19 19 p12 21501233 21520770 + 21666517 21686040 + 21483715 21503238 + 14702039;19207018 400680 ABBA01051378;AC010615;AK097381;AMYH02035805;BC040866;BX537835;HG510495;NR_037194 Hs.710554 1331567;5020740;5037552;5109281;7184802 D18S21;D19S215;D1S1425;D8S2279;L17809 ncrna ENSG00000268658 HGNC:44319 VALIDATED 6893029 LINC00675 long intergenic non-protein coding RNA 675 17 17 17 p13.1-p12 10729077 10738263 - 10698230 10707416 - 10794913 10804099 - 12477932;16344560 100289255 ABBA01054981;AC015908;AK024897;AMYH02032970;BC015790;BC041634;BC063383;BM924455;DA425830;NR_036581 Hs.306721 ncrna ENSG00000263429 HGNC:44356 VALIDATED 1346717 LINC00677 long intergenic non-protein coding RNA 677 q32.33 254299 AW103120;AW182802 Hs.252904 C14orf74 chromosome 14 open reading frame 74 APPROVED ncrna HGNC:20121 7243075 LINC00678 long intergenic non-protein coding RNA 678 11 11 p14.1 27639173 27656174 - 27617626 27634627 - 15146197 101410541 ABBA01060968;ABBA01060969;AC104563;AMYH02024505;CD049147;CD049808;CD176172;CN283585;EF565102;HG503630;HG503631;KF455345;NR_102708 Hs.471439;Hs.639639 1725223;5022383 ECD04345;RH118904 RP11-587D21.5 ncrna ENSG00000254934 HGNC:44413 VALIDATED 6907011 LINC00683 long intergenic non-protein coding RNA 683 18 18 q23 71143922 71154650 + 74327169 74337897 + 14702039 400660 AC034110;AK094957;AK127565;NR_120419;XR_159016;XR_159306;XR_172254 Hs.131718 1676466;1764189;1764655;5037552 D8S2279;RH92715;SHGC-147827;SHGC-148243 ncrna HGNC:44467 VALIDATED 6893238 LINC00674 long intergenic non-protein coding RNA 674 17 17 17 q24.2 62668691 62703006 + 66097696 66132070 + 68101555 68135929 + 12477932;14702039;16344560;16751776 100499466 ABBA01028966;ABBA01028967;AC005332;AC145343;AK091150;AK092798;AMYH02033869;BC018754;BC033765;BC045718;BC053686;BC067079;BC073783;BC094861;DA232946;DQ571807;DQ576699;DQ587552;DQ599054;DQ600898;LK938149;LK938150;LK938151;NR_027418 Hs.591212;Hs.647405 1656315;2130895;5024658;5096633;5117206 D17S2020;GDB:451763;RH47730;RH78289;RH91767 ncrna HGNC:44355 VALIDATED 6893232 LINC00673 long intergenic non-protein coding RNA 673 17 17 17 66970817 67160265 - 70399463 70588943 - 72403322 72592804 - 24068947;8889548 100499467 ABBA01028887;ABBA01028888;ABBA01028889;ABBA01028890;ABBA01028891;AC006948;AC007639;AK000477;AK129763;AMYH02033939;AMYH02033940;AMYH02033941;AMYH02033942;AMYH02033943;AMYH02033944;CB241259;HG509401;HG509403;HG509404;KF511236;KF573684;NR_036488 Hs.157726 1336523;1337345;1688781;1700948;1713083;1715051;1719039;5015619;5022651;5037552 D11S2921;D11S3114;D17S1797;D17S1826;D8S2279;RH104101;RH119477;RH120329;RH123226;RH92447 LINC00511 ncrna HGNC:44354 VALIDATED 6892966 LINC00684 long intergenic non-protein coding RNA 684 X X X q13.2 72345415 72346210 - 72158003 72158798 + 72938163 72938958 + 100129407 AA393776;AA833717;AC234776;AI149821;AL353999;AMYH02039758;CH471213;HY038238;NR_034116;NR_120499 EAW71834 Hs.512473;Hs.729437 1697756 RH102401 DMRTC1-AS1;RP1-172N19.1 APPROVED ncrna ENSG00000275520 HGNC:44268 VALIDATED 1602636 LINC00685 long intergenic non-protein coding RNA 685 X;Y X;Y p22.33; Yp11.3 281385 282067 + 319145 321332 + 12477932;14702039;16344560 283981 AK023454;AL954664;AMYH02038636;BC041934;DA066179;DA521837;FO681518;NG_034126;NR_027231;NR_027232 Hs.575741 CXYorf10;NCRNA00107;PPP2R3B-AS1 APPROVED ncrna HGNC:27560 VALIDATED 6906996 LINC00682 long intergenic non-protein coding RNA 682 4 4 p13 41881538 41884588 - 41879521 41882611 - 12477932;16344560 101927074 ABBA01014277;AC108210;AL521949;AMYH02009101;BC025350;DA908871;NR_104143 Hs.611425 ncrna ENSG00000245870 HGNC:44466 VALIDATED 1344735 LINC00686 long intergenic non-protein coding RNA 686 140865 D80415 C20orf90;bA93B14.2 hypothetical protein LOC140865;uncharacterized protein LOC140865 APPROVED ncrna HGNC:16221 7174874 LINC00690 long intergenic non-protein coding RNA 690 3 3 p24.3 16577825 16582880 + 16536318 16541373 + 12477932 100996597 ABBA01025129;AC010139;AMYH02006343;AMYH02006344;BC034913;BX100558;HG495529;NR_103843 Hs.599432 1688114 RH92092 RP11-194G10.1 ncrna ENSG00000233570 HGNC:44503 VALIDATED 7242857 LINC00676 long intergenic non-protein coding RNA 676 13 13 q34 110380621 110382381 + 109728274 109730034 + 10737800 101409253 ABBA01027005;AL162497;AMYH02028704;AW816149;CV353881;HG505878;NR_103846 Hs.578072 RP11-313L9.1 ncrna ENSG00000234854 HGNC:44394 VALIDATED 7174768 LINC00692 long intergenic non-protein coding RNA 692 3 3 3 p24.2 25836891 25852079 - 25900023 25915186 - 25858532 25873695 - 12477932 285326 C9JLB4 ABBA01025014;AC103588;AMYH02006426;AMYH02006427;BC033370;BC126324;BC143987;BC143998;BC143999;NR_034055 Hs.145246 ncrna ENSG00000230891 HGNC:27708 VALIDATED 7174948 LINC00691 long intergenic non-protein coding RNA 691 3 3 3 p24.2 24077096 24080369 - 24141465 24144738 - 24099974 24103247 - 12477932 152024 ABBA01025032;AC098971;AMYH02006408;BC033355;BC039347;BC045572;BC121796;NR_026834 Hs.385606 ncrna ENSG00000224074 HGNC:44514 PREDICTED 7242888 LINC00681 long intergenic non-protein coding RNA 681 8 8 p23.1 12651752 12675800 + 12794243 12818291 + 8889548 101409254 ABBA01021632;AC123777;AMYH02017469;AMYH02017470;BM678210;BM725196;NR_102423 Hs.571476 ncrna ENSG00000255494 HGNC:44423 VALIDATED 7175031 LINC00694 long intergenic non-protein coding RNA 694 3 44462622 44465517 - 100506301 XR_110050;XR_133338;XR_171376 Hs.131918 ncrna HGNC:44570 7174920 LINC00693 long intergenic non-protein coding RNA 693 3 3 3 p24.1 28554658 28735909 + 28616769 28799828 + 28575278 28758337 + 12477932;16344560;21044948 645206 AA434563;ABBA01024975;ABBA01024976;AC093412;AC109586;AMYH02006462;AW665606;BX099378;BX099784;BX333929;BX369823;CH471055;DA824547;HG495561;HG495562;HG495563;NR_038840;R20280;R20979 EAW64402 Hs.376725;Hs.388256;Hs.644308 1337259;1655815;1667475;1714923;1721943;2151318;2161748;2161750;7185506 D3S1283;D3S4535;G59854;RH120456;RH45316;RH65615;SHGC-76787;WI-22619 AC109586.1 ncrna HGNC:44526 VALIDATED 2301499 LINC00696 long intergenic non-protein coding RNA 696 3 3 3 p21.2 52075434 52078452 - 52096110 52099128 - 52062094 52065112 - 100128378 Q6ZRV3 ABBA01024514;AC115284;AK127958;AMYH02006798;NR_027331 Hs.640106 C3orf74 APPROVED ncrna HGNC:34426 VALIDATED 7175204 LINC00698 long intergenic non-protein coding RNA 698 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 3 3 3 p14.2 63106299 63128666 + 63088364 63110738 + 63102688 63125062 + 6480464;8554872 12477932 285401 ABBA01024325;AC104299;AMYH02006942;BC039502;BC043407;BC104474;BC104475;HG495720;HG495722;NR_027104 Hs.211125 RP11-129K20.2 ncrna ENSG00000244342 HGNC:27720 PREDICTED 7109849 LINC00689 long intergenic non-protein coding RNA 689 ASSOCIATED WITH Lung Neoplasms (inferred) 7 7 7 q36.3 153234446 153252331 + 158801045 158818929 + 159008354 159026238 + 8554872 12477932;12690205 154822 ABBA01032301;AC004863;AK125809;AMYH02017189;BC013024;BC024307;BC041429;BC042556;CH236954;NR_024394 EAL23934;EAL23935 Hs.544783;Hs.667767 1689765;5015861;7185938 D10S16;RH93213 ncrna ENSG00000231419 HGNC:27217 VALIDATED 2304639 LINC00671 long intergenic non-protein coding RNA 671 ASSOCIATED WITH Lung Neoplasms (inferred) 17 17 17 q21.31 37682763 37706884 - 41026691 41050751 - 42874674 42898734 - 8554872 12477932;14702039 388387 Q96N93 ABBA01006404;AC016889;AK055784;AK298293;AMYH02033441;BC122867;BC122868;CH471152;DC361857;HG509061;HG509062;HG509063;NR_027254 BAB71012;BAG60551;EAW60899;EAW60900 Hs.632257 2115148;2180024 D17S1208;D17S2095 AC100793.2;FLJ31222;MGC148166 APPROVED ncrna ENSG00000213373 HGNC:44339 13404 VALIDATED 7176786 LINC00702 long intergenic non-protein coding RNA 702 10 10 p15.1 4277487 4286034 - 4206876 4243912 - 15146197;16344560 100652988 ABBA01035211;AC025822;AL133552;AMYH02022020;DA853538;HG502605;HG502606;NR_108040 Hs.433011 RP11-67B16.1 ncrna HGNC:44676 VALIDATED 7175726 LINC00700 long intergenic non-protein coding RNA 700 INTERACTS WITH (+)-catechin 10 10 p15.3 2047667 2056542 - 2005473 2014348 - 14702039 282980 ABBA01035241;AK097474;AL441943;AMYH02021994;HG502577;KF455195;NR_040253 Hs.576810 5024756;5109663 D7S2067E;RH80030 RP11-69C17.1 ncrna ENSG00000234962 HGNC:27422 VALIDATED 7176796 LINC00706 long intergenic non-protein coding RNA 706 10 10 p14 6816265 6821141 - 6774303 6779180 - 16344560 100652997 ABBA01034759;AL590637;AMYH02022069;DB312181;DB484295;NR_108074 Hs.255086 ncrna HGNC:44690 VALIDATED 1351532 LINC00687 long intergenic non-protein coding RNA 687 ASSOCIATED WITH Lung Neoplasms (inferred) 20 20 20 p12.2 11860777 11921520 - 11790635 11852646 - 11809987 11872015 - 8554872 11780052;19204726 728450 ABBA01053946;ABBA01053947;AL080274;AMYH02036707;BX092309;CH471133;HG511196;NR_110635;XR_109647;XR_133255;XR_172304 EAX10329 Hs.560990 1677682;1851853;2121465 AL031203;RH98391;Z94306 C20orf61;dJ1012F16.1 APPROVED ncrna HGNC:16194 VALIDATED 7176523 LINC00701 long intergenic non-protein coding RNA 701 10 10 p15.3 2342513 2357268 - 2300319 2315074 - 12477932 399708 ABBA01035238;AL139818;AMYH02021998;BC055423;HG502584;NR_038884 Hs.521270 1724975 RH120293 RP11-311B18.1 ncrna HGNC:44674 VALIDATED 7175685 LINC00704 long intergenic non-protein coding RNA 704 10 10 10 p15.1 4637464 4663347 - 4692377 4720262 - 4650185 4678070 - 20662065;23251661 100216001 ABBA01035205;AC018978;AL589165;AMYH02022024;BC048320;HG502611;HG502613;NR_024475 Hs.634869 1717519;2152981 RH122266;SHGC-58291 RP11-117P22.1 ncrna ENSG00000231298 HGNC:44678 PREDICTED 7176425 LINC00705 long intergenic non-protein coding RNA 705 INTERACTS WITH (+)-catechin 10 10 10 p15.1 4643433 4649697 + 4698348 4704611 + 4656156 4662419 + 12477932 338588 ABBA01035205;AL589165;AMYH02022024;BC040895;BC101460;BC101989;BC104742;BC129979;HG502614;NR_015425 Hs.121365 2152981 SHGC-58291 RP11-117P22.2 ncrna HGNC:27874 VALIDATED 7177476 LINC00707 long intergenic non-protein coding RNA 707 10 10 10 6744315 6809664 + 6821560 6884868 + 6779598 6842906 + 14702039 100507127 ABBA01034757;ABBA01034758;ABBA01034759;AK094154;AL392086;AL590637;AMYH02022069;BM990174;HG502648;NR_038291 Hs.498571 1718061 RH122648 RP11-799O21.1 ncrna ENSG00000238266 HGNC:44691 VALIDATED 7177444 LINC00703 long intergenic non-protein coding RNA 703 10 10 p15.1 4448652 4450976 + 4384246 4410612 + 14702039;16344560 100507059 ABBA01035210;AC022535;AK095699;AL157889;AMYH02022022;BX095585;DA500285;HG502608;NR_108054;NR_108055;NR_108056 Hs.158438 RP11-34C15.1 ncrna ENSG00000224382 HGNC:44677 VALIDATED 7177493 LINC00708 long intergenic non-protein coding RNA 708 10 10 p14 8301294 8310268 - 8259331 8268305 - 12477932 100507143 ABBA01034722;AL357712;AL390835;AMYH02022093;BC031880;HG502660;NR_108058 Hs.258979 GS1-756B1.2 ncrna ENSG00000232170 HGNC:44694 VALIDATED 7177503 LINC00709 long intergenic non-protein coding RNA 709 10 10 10 p14 9243091 9254593 + 9317576 9329017 + 9275613 9287057 + 24068962 100507163 AA846132;ABBA01034716;AL138773;AMYH02022102;BX111793;NR_108039 Hs.649223 ncrna HGNC:44700 VALIDATED 7205361 LINC00836 long intergenic non-protein coding RNA 836 10 10 p12.1 25940641 26021864 + 25651712 25732935 + 14702039;16344560;23382691 101929052 ABBA01034427;ABBA01034428;AC018509;AK123440;AMYH02022490;AMYH02022491;BE856605;BF435290;BX100192;DA169579;DA762562;NR_108067;NR_108068;NR_108069;W33193;W37259 Hs.128298 ncrna HGNC:44915 VALIDATED 7177209 LINC00710 long intergenic non-protein coding RNA 710 10 10 10 p14 10905288 10922381 - 10976903 10994126 - 10934940 10952163 - 12477932;16344560 254312 ABBA01034699;ABBA01034700;AL136369;AMYH02022118;BC033338;BC106956;BC106957;BC113009;DB038073;NR_015413;NR_024410;NR_024411 Hs.498620 2166057 RH48673 ncrna HGNC:27386 VALIDATED 7205393 LINC00838 long intergenic non-protein coding RNA 838 10 10 10 33813959 33826948 - 34048641 34061608 - 33759713 33772680 - 12477932;16344560 100505583 ABBA01033366;AL353643;AMYH02022596;AMYH02022597;BC042457;DB078335;HG502800;NR_038932 Hs.568804 1761455 SHGC-145463 RP11-359J23.1 ncrna ENSG00000261683 HGNC:44963 VALIDATED 7207708 LINC00840 long intergenic non-protein coding RNA 840 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 44354859 44390881 + 43859411 43895433 + 8554872 14702039 100506835 ABBA01050014;ABBA01050015;AK054825;AL139237;AMYH02022718;HG502846;NR_038268 Hs.462615 1727257;1727475 G62884;G62995 RP11-168P8.2 ncrna ENSG00000226808 HGNC:44987 VALIDATED 7205527 LINC00841 long intergenic non-protein coding RNA 841 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 10 q11.21 40408335 40468930 + 44404752 44465355 + 43909304 43969907 + 8554872 14702039;23251661 283033 ABBA01050016;AK093142;AK310302;AL139237;AL512640;AMYH02022718;AMYH02022719;NR_033846 Hs.730228 1339785;1684558;1765979 D10S1783;RH92399;SHGC-149367 ncrna HGNC:27430 PREDICTED 7205554 LINC00842 long intergenic non-protein coding RNA 842 10 10 10 q11.22 1 1438 + 47096454 47151400 - 46398362 46453306 + 12477932 643650 ABBA01006251;ABBA01127407;AC244230;AL390716;AL391137;BC033221;NR_033957 AAH33221 Hs.744313 1782068;2134149 RH44528;SHGC-153959 RP11-314P12.2 ncrna ENSG00000264230 HGNC:44989 VALIDATED 7205377 LINC00837 long intergenic non-protein coding RNA 837 10 10 10 p12.1 28842946 28849732 - 29078240 29084979 - 28789311 28796050 - 12477932;16344560;16751776 100507605 ABBA01034372;AL080132;AL355376;AMYH02022542;BC028422;DB072413;DB091920;DB099527;DQ570228;DQ570950;DQ571718;DQ571900;DQ572686;DQ572875;DQ573363;DQ573552;DQ574444;DQ574601;DQ574882;DQ575911;DQ577491;DQ577642;DQ578034;DQ578035;DQ578156;DQ578493;DQ579042;DQ579043;DQ579679;DQ579691;DQ580580;DQ580639;DQ581283;DQ581922;DQ582408;DQ582495;DQ583515;DQ583749;DQ584181;DQ584779;DQ585406;DQ585943;DQ585944;DQ586334;DQ587220;DQ587221;DQ587222;DQ587717;DQ587832;DQ589991;DQ590256;DQ590741;DQ591000;DQ591366;DQ591611;DQ591712;DQ591931;DQ592062;DQ592173;DQ592750;DQ592976;DQ593266;DQ593299;DQ594039;DQ594163;DQ594186;DQ594620;DQ594644;DQ594774;DQ595188;DQ595433;DQ595623;DQ595624;DQ595760;DQ595815;DQ596324;DQ597121;DQ597339;DQ597510;DQ598413;DQ598550;DQ598634;DQ598916;DQ599704;DQ601875;HG502763;HG502765;NR_038374;NR_038375;NR_038376 Hs.119207 1696954 RH101949 RP11-478H13.2 ncrna ENSG00000235824 HGNC:27436 VALIDATED 7206989 LINC00843 long intergenic non-protein coding RNA 843 10 10 q11.23 51729786 51734610 + 49942081 49974957 + 102902672 HG502899;HG502900 ncrna HGNC:45009 7206860 LINC00844 long intergenic non-protein coding RNA 844 10 10 10 q21.1 54025137 54026987 + 60759319 60761231 + 58999518 59001617 + 16344560;16712791 100507008 ABBA01019444;AC022539;AMYH02023159;CB157564;DA153602;DB500612;NR_108046 Hs.170953 ncrna HGNC:45031 VALIDATED 8550456 LINC00824 long intergenic non-protein coding RNA 824 8 8 q24.21 129417515 129440162 - 128405269 128427916 - 12477932;16344560;23042114 101927774 ABBA01037957;AC015807;AC067844;AC103822;AMYH02018768;BC009730;BC014119;BC015157;BC019003;BQ223316;DA815696;NR_121672;NR_121673;XR_242432;XR_250413;XR_252475 AAH14119 Hs.628730;Hs.636656;Hs.636657 LINC01263 APPROVED ncrna ENSG00000254275 HGNC:50281 VALIDATED 7206996 LINC00845 long intergenic non-protein coding RNA 845 10 10 q21.2 62776033 62786175 + 61016275 61026417 + 100507058 ABBA01019470;AC011197;AI792470;AMYH02023178;AW000921;NR_108052 Hs.145227 ncrna ENSG00000227244 HGNC:45033 VALIDATED 7240929 LINC00849 long intergenic non-protein coding RNA 849 10 q21.3 70236918 70240681 - 100996629 BC023330;XR_159036;XR_159199;XR_171859 Hs.180408 2122189;2128220;5015869 GDB:313261;RH44651;STS-R73468 ncrna 7240982 LINC00850 long intergenic non-protein coding RNA 850 X X q28 5350106 5404197 + 149825708 149879799 + 23223008 101241891 ABBA01027307;ABBA01027308;ABBA01027309;ABBA01027310;ABBA01027311;ABBA01027312;ABBA01027313;ABBA01027314;ABBA01027315;ABBA01027316;ABBA01027317;ABBA01027318;ABBA01027319;AC244098;AC244099;JX283354;NR_109813 Hs.744829 KUCG1 ncrna HGNC:45092 300892 VALIDATED 7207551 LINC00847 long intergenic non-protein coding RNA 847 5 5 5 q35.3 175872984 175886651 + 180257957 180262726 + 180830957 180835726 + 12477932;14702039;16344560 729678 ABBA01010085;ABBA01010086;AC022413;AK095170;AK308536;AMYH02012913;BC047586;BX419382;DA361911;HG498850;HG498851;HG498852;NR_027183;NR_045678;NR_045679 Hs.348292;Hs.655606 1780732;2185180 STS-H87270;bac51843S ncrna ENSG00000245060 HGNC:45050 VALIDATED 1606857 LINC00851 long intergenic non-protein coding RNA 851 20 20 20 p11.23 18433780 18436217 + 18359693 18362128 + 18379049 18381484 + 12477932 440757 Q8NEA0 ABBA01054045;AL049646;AMYH02036779;BC033985;CH471133;NR_034167 AAH33985;EAX10248 Hs.120399 1684116 RH99246 DZANK1-AS1;MGC44328 APPROVED ncrna ENSG00000237282 HGNC:43424 14632 VALIDATED 2303682 LINC00839 long intergenic non-protein coding RNA 839 10 10 10 q11.21 38974383 38994229 + 42970939 42990785 + 42475491 42495337 + 12477932;14702039;16341674 84856 Q8NAU0 ABBA01049989;AK024638;AK090789;AK092104;AK293138;AL391099;AMYH02022699;BC007394;BI517331;BM738658;CH471160;CK903828;HG502829;HG502830;NR_026827 BAC03807;BAG56686;EAW86555 Hs.55977 1718671;2107363 MGC16291__7677;RH123023 RP11-178A10.1 APPROVED ncrna ENSG00000185904 HGNC:28269 17516 VALIDATED 1606766 LINC00852 long intergenic non-protein coding RNA 852 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol 3 3 3 p25.3 10261911 10263238 + 10326103 10327430 + 10284419 10285746 + 6480464;8554872 12477932 84657 ABBA01020380;AC022384;AF085991;AF280797;AMYH02006255;BC015602;BC132802;BC132804;CH471055;NG_011560;NG_033090;NR_026829 AAK15459;EAW64073 Hs.302131 1653892;2187875 G72349;SHGC-34896 C3orf42;GHRL-AS2;GHRLOS2;NAG73 APPROVED ncrna ENSG00000231177 HGNC:29904 VALIDATED 6480821 LINC00853 long intergenic non-protein coding RNA 853 1 1 47644922 47646011 + 47179250 47180339 + 20887892 100874253 ABBA01050829;AI651041;AI792909;AL135960;AMYH02000968;NR_047498 Hs.435758 PDZK1IP1-AS1;ncRNA-a4 APPROVED ncrna ENSG00000224805 HGNC:43716 VALIDATED 6769766 LINC00854 long intergenic non-protein coding RNA 854 17 17 41373437 41381062 - 43221417 43229011 - 12477932;22196729 100874261 ABBA01006386;ABBA01006387;AC024051;AC109326;AMYH02033453;AMYH02033454;BC073918;NR_047479 Hs.546898 TMEM106A-AS1 APPROVED ncrna HGNC:43658 VALIDATED 7257037 LINC00856 long intergenic non-protein coding RNA 856 10 10 10 q22.3 73294904 73299060 + 80008382 80012402 + 78248625 78252645 + 14702039;20379614;8889548 100132987 ABBA01020221;AC010163;AC012560;AK091031;AK294518;AL583852;AL731570;AMYH02023392;BM666787;NR_038985 BAG57730 Hs.55047;Hs.576887 1335033;1340221;1652930;1703990;1705010;1710168;1731056;1776273;2186459 094YH3;D10S1151;D10S14;D10S1677;G17512;RH67986;SHGC-77775;SHGC-78021;SHGC-82349 ncrna ENSG00000230417 HGNC:45111 VALIDATED 7240948 LINC00857 long intergenic non-protein coding RNA 857 10 10 10 q22.3 75958413 75970348 + 81967466 81979413 + 80207710 80219657 + 12477932 439990 ABBA01003806;AL513174;AMYH02023415;BC009626;BC048265;NR_038464 Hs.365566 ncrna ENSG00000237523 HGNC:45114 VALIDATED 7240859 LINC00858 long intergenic non-protein coding RNA 858 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 10 q23.1 80035419 80050098 + 86039736 86054415 + 84279980 84294659 + 8554872 12477932;14702039 170425 ABBA01003756;AC022389;AK056561;AMYH02023451;BC104895;BC104921;HG503094;HG503095;NR_038220 Hs.434131 RP11-124L5.7 ncrna ENSG00000229404 HGNC:27276 VALIDATED 7241718 LINC00864 long intergenic non-protein coding RNA 864 10 10 q23.2 89156331 89167457 - 87396574 87407700 - 12477932 728218 ABBA01015528;ABBA01015529;AL355334;AMYH02023500;BC065757;HG503119;NR_046091 Hs.713428 5014063 D15S1390 RP11-399L7.2 ncrna HGNC:45163 VALIDATED 1602788 LINC00862 long intergenic non-protein coding RNA 862 FOUND IN integral component of membrane (inferred) 1 1 q32.1 200311672 200342920 - 200342544 200373792 - 12477932;15489334;16710414 554279 A6NCI5 ABBA01027552;ABBA01027553;ABBA01027554;AC097065;AMYH02002458;AMYH02002459;AMYH02002460;AMYH02002461;BC040731;EU250749;HG493061;NR_040064 A6NCI5 Hs.434694;Hs.575858 5015861;7185938 D10S16 C1orf98;SMIM16 APPROVED ncrna ENSG00000203721 HGNC:21901 VALIDATED 7241777 LINC00865 long intergenic non-protein coding RNA 865 10 10 10 q23.31 85335694 85347049 + 91589250 91600618 + 89829493 89840861 + 11181995;12477932;16344560;16751776 643529 ABBA01021943;AL137595;AL138924;AL157389;AL390206;AMYH02023513;BC033541;BC035398;CH471066;DB062095;HG503138;HG503139;NR_038382 EAW50125 Hs.618956 RP11-248C1.2 ncrna ENSG00000232229 HGNC:45170 VALIDATED 7241928 LINC00867 long intergenic non-protein coding RNA 867 10 10 10 q26.11 113847215 113849314 + 120101385 120119257 + 118357108 118359203 + 8889549 100506126 AA121564;ABBA01062932;AI187845;AI733769;AL365498;AMYH02023893;HG503303;HG503304;NR_108045 Hs.69494 1685291 RH93340 RP11-319I23.2 ncrna ENSG00000232139 HGNC:45265 VALIDATED 7254462 LINC00861 long intergenic non-protein coding RNA 861 8 8 8 q24.13 123136019 123146078 - 126934767 126963441 - 125922523 125951197 - 16344560 100130231 ABBA01037923;AC024681;AMYH02018740;AMYH02018741;BX648371;DA818756;DA944021;HG501669;HG501670;HG501671;NR_038446;NR_038447 Hs.729642 1656925;5037552 D8S2279;SHGC-57729 RP11-622O11.2 ncrna ENSG00000245164 HGNC:45133 VALIDATED 7253256 LINC00875 long intergenic non-protein coding RNA 875 1 143718513 143744587 - 12477932 100286793 BC132962;BX284650;NR_027469 Hs.632443;Hs.740852 ncrna HGNC:48310 PREDICTED 7254565 LINC00879 long intergenic non-protein coding RNA 879 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 3 q11.2 93044547 93097615 + 94657107 94710172 + 94938263 94991328 + 8554872 12477932 255025 ABBA01026961;AC140059;AMYH02007256;BC038721;BC048119;BC104171;BC104172;BC115359;BC115360;HG495836;HG495837;HG495839;KF457661;NR_015400 Hs.130994 RP11-118N24.3 ncrna ENSG00000239589 HGNC:48566 VALIDATED 7255634 LINC00866 long intergenic non-protein coding RNA 866 10 10 q24.2 99588235 99609555 - 97828478 97849798 - 100505561 ABBA01021788;AL358938;AMYH02023613;CK818728;HG503190;NR_108035 Hs.351904 RP11-459F3.3 ncrna ENSG00000227356 HGNC:45232 VALIDATED 7252280 LINC00880 long intergenic non-protein coding RNA 880 3 3 3 q25.31 155222918 155264249 - 156799456 156840791 - 157081667 157123002 - 12477932;22911880 339894 ABBA01058836;AC104411;AC117392;AK311218;AMYH02007979;AMYH02007980;BC040669;BC122546;HG496226;NR_034007 Hs.478050 1663376;1678573;1752151;1766527;1784730;5125186 RH68581;RH98608;SHGC-106079;SHGC-149844;SHGC-154009;SHGC-34953 RP11-6F2.4 ncrna ENSG00000243629 HGNC:27948 VALIDATED 7242432 LINC00870 long intergenic non-protein coding RNA 870 3 3 3 p14.2 72131192 72154245 + 72200408 72223490 + 72151257 72174339 + 14702039 201617 ABBA01030943;AC112219;AK055831;AMYH02007056;BE468097;HG495793;NR_038221 Hs.382623 RP11-433A10.1 ncrna ENSG00000243083 HGNC:27319 VALIDATED 7243081 LINC00871 long intergenic non-protein coding RNA 871 ASSOCIATED WITH Lung Neoplasms (inferred) 14 14 q21.2 46533362 46971106 + 46064159 46501903 + 8554872 11329013;8889548 100506412 ABBA01018067;ABBA01018068;ABBA01018069;ABBA01018070;ABBA01018071;ABBA01018072;ABBA01018073;ABBA01018074;AL161664;AL355099;AL358341;AL512342;AL512414;AMYH02029114;AMYH02029115;AMYH02029116;BG186771;BG188315;BM725328;BU194844;BX092746;HG506162;HG506163;HG506164;KF455875;KF455877;KF455879;NR_102699;NR_102700;NR_102701;NR_102702 Hs.207545 ncrna ENSG00000258700 HGNC:47038 VALIDATED 7251899 LINC00883 long intergenic non-protein coding RNA 883 INTERACTS WITH valproic acid 3 3 3 q13.12 105358190 105442153 + 106959539 107045811 + 107240692 107326964 + 6480464 12477932;14702039;16344560;24886442 344595 ABBA01061713;ABBA01061714;ABBA01061715;AC063944;AC074043;AK055934;AK309100;AMYH02007381;AMYH02007382;BC039550;BU618315;DA339707;HG495869;HG495870;NR_028301;NR_028302 Hs.543039 1299926;1661828;1698208;1777308;2120213;2138484 D3S3045;D3S3982;RH102640;RH48614;RH65921;SHGC-77172 RP11-446H18.3 ncrna ENSG00000243701 HGNC:48569 VALIDATED 7253303 LINC00881 long intergenic non-protein coding RNA 881 3 3 3 q25.31 155231131 155242383 + 156807670 156818924 + 157089881 157101135 + 16344560 100498859 ABBA01058836;AC117392;AI192928;AMYH02007979;DA560258;HG496230;NR_034008 Hs.633655 1663376;1678573;5125186 RH68581;RH98608;SHGC-34953 RP11-6F2.6 ncrna ENSG00000241135 HGNC:48567 VALIDATED 7244063 LINC00877 long intergenic non-protein coding RNA 877 3 3 3 p14.2 72015117 72080318 - 72141422 72149409 - 72035519 72100455 - 14702039;16344560;23509962 285286 ABBA01030942;ABBA01030943;AC105265;AK097190;AMYH02007055;AMYH02007056;DA590669;HG495782;HG495783;HG495784;HG495787;NR_104116 Hs.559386 1696658;2149596;2186111 CHLC.GATA68A11;D3S2430;SHGC-82967 RP11-398A8.3 ncrna ENSG00000241163 HGNC:27706 VALIDATED 7254704 LINC00882 long intergenic non-protein coding RNA 882 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 3 q13.12 105227293 105358136 - 106828637 106959485 - 107109790 107240638 - 8554872 11329013;24886442 100302640 ABBA01061715;ABBA01061716;AC074043;AMYH02007379;AMYH02007380;AMYH02007381;BG196202;BX117271;DB443285;HG495864;HG495865;HG495867;KF457670;NR_028303 Hs.648607 1690558;5111623 RH92389;RH92857 RP11-280F2.2 ncrna ENSG00000242759 HGNC:48568 VALIDATED 7252475 LINC00887 long intergenic non-protein coding RNA 887 3 3 3 q29 192437568 192449173 - 194018988 194030593 - 194301199 194312804 - 12477932;14702039 100131551 ABBA01058275;AC117469;AI733313;AK054628;AMYH02008448;BC112168;BC113537;HG496521;NR_024480 Hs.128066;Hs.606465 5014051;5021872;5022651;5037552 D11S2921;D8S2278;D8S2279;sY3084 RP11-513G11.1 ncrna ENSG00000214145 HGNC:48574 VALIDATED 7257426 LINC00886 long intergenic non-protein coding RNA 886 3 3 3 q25.31 154888700 154958403 - 156465132 156534851 - 156747343 156817062 - 14702039;16344560;8889548 730091 ABBA01058837;ABBA01058838;AC106708;AK056401;AMYH02007973;AMYH02007974;AMYH02007975;AMYH02007976;BX115942;CA311498;DA163224;HG496223;KF457700;NR_038387 Hs.659905 1664694;1682605;1685688;1689448;1853251 G16612;RH48706;RH79880;RH93693;SHGC-77485 RP11-392A22.2 ncrna ENSG00000240875 HGNC:48572 VALIDATED 7256495 LINC00888 long intergenic non-protein coding RNA 888 3 3 3 181601027 181609436 + 183165396 183173801 + 183447608 183456013 + 14702039;8889548 100505687 ABBA01058480;AC092960;AK057000;AMYH02008285;AMYH02008286;BU681610;BX421767;NR_038301;NR_038302 Hs.551751 1698234 RH102653 ncrna ENSG00000240024 HGNC:48575 VALIDATED 2303894 LINC00889 long intergenic non-protein coding RNA 889 X X X q26.3 138062880 138065787 - 137696892 137699799 - 138614731 138617638 - 12477932;14702039;16344560 158696 Q969H1 ABBA01065958;AK055234;AK055382;AL357123;AMYH02040603;BC105719;BC105725;BC105726;BC105727;BC139831;CH471150;DA392242;NR_026935 BAB70883;BAB70911;EAW88443 Hs.558664 FLJ30672 APPROVED ncrna HGNC:26410 06549 VALIDATED 7249247 LINC00890 long intergenic non-protein coding RNA 890 X X X q23 111234485 111245222 + 110754890 110765627 + 111511662 111522399 + 401613 AA429445;ABBA01043288;ABBA01043289;ABBA01043290;AL035067;AMYH02040238;BX537697;BY994992;DR005240;HG512653;NR_033974 Hs.98581 1686068 RH92247 DKFZp686D0853;RP6-170F5.2 ncrna ENSG00000260802 HGNC:48576 VALIDATED 7254441 LINC00891 long intergenic non-protein coding RNA 891 X X X q13.1 71269311 71275543 + 70917046 70923256 + 71697196 71703406 + 12477932;14702039 441501 ABBA01046155;AK126424;AK128305;BC127895;BC127896;BC141911;BX276092;NR_034005 Hs.641282;Hs.742520 ncrna HGNC:48577 VALIDATED 7251771 LINC00892 long intergenic non-protein coding RNA 892 X X X q26.3 136085502 136088261 + 135721702 135724588 + 136639543 136642429 + 11329013 100128420 ABBA01055928;AL135783;AMYH02040580;BC042469;BG189095;BX112139;CD639382;CD699893;NR_038461;NR_038462 Hs.152595 ncrna ENSG00000233093 HGNC:48578 VALIDATED 1602259 LINC00885 long intergenic non-protein coding RNA 885 3 3 3 q29 194453955 194455681 + 195869474 195887761 + 196142636 196160890 + 12477932 401109 Q6ZPD5 ABBA01033713;AC139666;AC245464;AC246794;AK129507;BC144578;BC144579;BC144580;BC151150;HG496601;NR_034088 AAI51151;BAC85170 Hs.280133 AC139666.1;FLJ25996 APPROVED ncrna ENSG00000224652 HGNC:48571 16924 VALIDATED 7252096 LINC00893 long intergenic non-protein coding RNA 893 X X X q28 148957866 148970016 - 148609130 148621312 - 149527591 149539752 - 10737977;12477932;14702039;8717057;9147653 100131434 AA757379;ABBA01049648;ABBA01049649;ABBA01049650;AC233288;AC244197;AF011889;AF050144;AI863856;AK124040;AK303548;AK310119;AK310957;BU754560;BX322650;BX927209;DQ160194;HG512732;HG512733;HG512734;HG512735;HG512736;HG512739;HG512741;HG512742;HG512743;HG512744;HG512746;HG512747;NR_027455;U66044;U66045 AAZ93378;BAG64573 Hs.669775 1657386;1670533;2114359;2132703;2132705;2144732;2172413;2174667;5019723 A006J30;A009K15;G20875;G32610;NIB220;RH16561;SHGC-36230;WI-11260;WI-15826 AF011889.4 ncrna ENSG00000241769 HGNC:44265 VALIDATED 7253011 LINC00894 long intergenic non-protein coding RNA 894 INTERACTS WITH valproic acid X X X 149351969 149430725 + 149106766 149185018 + 149938548 150016787 + 6480464 12477932;14702039;16344560;9147653 100272228 ABBA01037068;ABBA01037069;ABBA01037070;ABBA01037071;ABBA01037072;ABBA01037073;ABBA01037074;ABBA01037075;AC244099;AK054813;AK126415;AMYH02040761;BC032484;BX322650;BX927209;DA306809;HG512751;HG512753;HG512759;NR_027456;U66046;U66048 Hs.496916 1675180;2170390 SHGC-52822;STS-H25551 RP13-507I23.1 ncrna ENSG00000235703 HGNC:48579 VALIDATED 7255262 LINC00896 long intergenic non-protein coding RNA 896 22 22 22 q11.21 4044454 4046659 + 20193855 20196060 + 20206332 20208537 + 14702039;15461802 150197 ABBA01005393;AC007663;AK057137;AMYH02038057;BU584467;BU585161;BX114609;CH471176;CR456358;NR_026919 CAG30244;EAX02978 Hs.635544 ncrna ENSG00000236499 HGNC:26519 VALIDATED 7252992 LINC00895 long intergenic non-protein coding RNA 895 22 22 22 q11.21 3405909 3406618 - 19553653 19554362 - 19566130 19566839 - 12477932;14702039 150185 ABBA01005409;AC000070;AK057431;AMYH02038044;BC042984;BC104250;BC104251;BC113002;BC113003;CH471176;NR_024381 EAX03033 Hs.719752;Hs.723715 5015961;5022576;5037552;5109281 D15S1477;D1S1361;D1S1425;D8S2279 ncrna HGNC:48580 VALIDATED 1605489 LINC00898 long intergenic non-protein coding RNA 898 22 22 22 q13.31 31931184 31941712 - 48016792 48027318 - 47621043 47631569 - 12477932;16751776 400932 ABBA01010477;ABBA01010478;AK128136;AL117329;AMYH02038548;BC132762;BC132788;BC144501;BC144502;CH471138;HG512368;HG512369;HG512370;NR_033377;Z83854 EAW73451 Hs.561058 1660099 AL031087 RP11-191L9.6 APPROVED ncrna ENSG00000205634 HGNC:48581 17000 VALIDATED 7251443 LINC00899 long intergenic non-protein coding RNA 899 INTERACTS WITH (+)-catechin 22 22 22 q13.31 30343389 30348295 - 46435787 46440748 - 46039907 46044868 - 11181995;12107413;12477932 100271722 ABBA01010434;ABBA01010435;AI760841;AL137569;AL929387;AMYH02038528;AW137413;BC037213;CD674752;CH471138;NR_027036 EAW73395 Hs.528519 1690121;5022200;5022450;5022578;5022588;5037552 D10S275;D1S1423;D5S1597E;D8S2279;L18426;RH92666 ncrna HGNC:48583 VALIDATED 7254735 LINC00884 long intergenic non-protein coding RNA 884 3 3 3 q29 192623228 192624633 + 194207869 194209274 + 194487140 194488545 + 14702039;16344560 401106 ABBA01001627;AC108676;AK091527;AK094122;AMYH02008453;CN480877;DA504887;DB267472;NR_033929 Hs.407087;Hs.638278 ncrna HGNC:48570 VALIDATED 5144627 LINC00901 long intergenic non-protein coding RNA 901 3 3 3 q13.31 115048261 115059068 + 116640278 116651085 + 116921431 116932238 + 100506724 ABBA01061609;AC069504;AMYH02007481;BC040587;NR_121607;XR_108471;XR_112529;XR_171400 Hs.125983 LSAMP-AS4;TCONS_00005428 APPROVED ncrna ENSG00000242385 HGNC:40352 VALIDATED 7256234 LINC00900 long intergenic non-protein coding RNA 900 11 11 11 q23.3 112781397 112786266 - 115626049 115630918 - 115755331 115760200 - 14702039;16344560;17903296 283143 ABBA01039760;AK090602;AMYH02025612;AP002991;BX094453;DA991791;HG504188;NR_034148 Hs.130499 1774005;2112324;5022649;5022651;5037552 C95573;D11S2875;D11S2921;D11S4899;D8S2279 ncrna HGNC:27444 VALIDATED 5686933 LINC00903 long intergenic non-protein coding RNA 903 q13.31 100861506 AC078784;DB446734 Hs.641878 LSAMP-AS2 APPROVED ncrna HGNC:40351 7244703 LINC00904 long intergenic non-protein coding RNA 904 19 19 35382933 35389847 - 34892029 34898943 - 16751776 100652909 ABBA01018726;AC008555;AMYH02035969;BX091932;DQ576308;DQ578267;DQ580034;HG510661;NR_046222 Hs.374015 ncrna ENSG00000271649 HGNC:44325 VALIDATED 2292051 LINC00905 long intergenic non-protein coding RNA 905 19 19 19 p13.12 16042717 16052352 + 16143286 16152921 + 16033713 16042135 + 12477932 148231 ABBA01051127;AC004790;AC114273;AK058057;AMYH02035666;BC031284;BC069223;BC104220;BC104221;CH471106;DB461577;NR_024335;NR_110321 BAB71644;EAW84519;EAW84520 Hs.631621 2177383 RH65338 MGC126002 APPROVED ncrna ENSG00000167459 HGNC:26334 08056 VALIDATED 7244393 LINC00908 long intergenic non-protein coding RNA 908 18 18 18 q23 71057948 71089126 + 74240612 74271784 + 76528655 76559827 + 12477932;14702039 284276 ABBA01015281;AC018413;AC034110;AK093936;AMYH02035016;AMYH02035017;BC035336;BC121150;BC121151;KF573646;LN608676;LN608677;NR_015417 Hs.390287 5037552 D8S2279 ncrna ENSG00000263812 HGNC:27599 VALIDATED 7245181 LINC00907 long intergenic non-protein coding RNA 907 ASSOCIATED WITH Lung Neoplasms (inferred) 18 18 18 q12.3 36575207 36921932 + 39766633 40271391 + 42186668 42691426 + 8554872 11181995;12477932;21697133;22566634;23251661;23870195;24024966 284260 AB593072;AB593073;AB593074;AB593075;AB593076;ABBA01022364;ABBA01022365;ABBA01022366;ABBA01022367;AC011165;AC015670;AC021735;AC025480;AC084335;AC090239;AMYH02034611;AMYH02034612;AMYH02034613;BC011527;BC021928;BC040725;CH471088;HG509949;HG509950;HG509953;HG509955;HG509956;HG509957;KF456381;KF456384;KF456385;NR_046174;NR_046454;NR_046455;NR_046456;NR_046457;NR_046458 AAH21928;EAX01428;EAX01429 Hs.652819 5037552 D8S2279 RP11-21F16.1 ncrna ENSG00000267586 HGNC:44327 VALIDATED 1606371 LINC00909 long intergenic non-protein coding RNA 909 INTERACTS WITH atrazine 18 18 18 q22.3 69125425 69131524 - 72259010 72265071 - 74591774 74597835 - 12477932;14702039;16344560 400657 ABBA01056328;AC116904;AK001853;AMYH02034993;AX877680;BC036588;BC132930;BC132956;DA004415;DB148466;FP565322;NR_024484 BAG50984;CAE89832 Hs.61508 1665536;2137961;2143398;2143400;2176634;2176846 A005Y36;G20604;RH12437;STS-AA030055;STS-Z41513;WI-16865 FLJ10991 APPROVED ncrna ENSG00000264247 HGNC:44331 17385 VALIDATED 7244454 LINC00914 long intergenic non-protein coding RNA 914 p21.33 101669765 HF678991 Hs.745582 RAGE ncrna HGNC:48604 7245156 LINC00919 long intergenic non-protein coding RNA 919 16 16 52116977 52119038 - 52083065 52085109 - 12477932 100505619 ABBA01066469;AC009039;AK098676;AMYH02032030;BC034401;BC070369;BC105278;HG508071;HG508072;NR_038233 Hs.535454 1687015 RH92391 RP11-152O14.2 ncrna ENSG00000260268 HGNC:48610 VALIDATED 7244601 LINC00917 long intergenic non-protein coding RNA 917 16 16 16 q24.1 70668861 70682726 - 86365456 86379285 - 86331850 86345679 - 12477932;14702039;20339536;21441570;23251661 732275 ABBA01034296;AC092327;AK093244;AL137562;AMYH02032606;BC043250;BC144028;HG508420;HG508421;HG508422;NR_024406 Hs.558087;Hs.735136;Hs.735593 RP11-158I3.2 ncrna ENSG00000168367 HGNC:48607 VALIDATED 7244879 LINC00906 long intergenic non-protein coding RNA 906 INTERACTS WITH (+)-catechin 19 19 19 q12 26157982 26161999 + 29456038 29460055 + 28965131 28969148 + 12477932 148145 ABBA01039529;AC011505;AC011524;AMYH02035868;BC039341;BC101426;BC101427;BC101428;BC122525;BX647231;DB513590;NR_027318 Hs.112651 ncrna ENSG00000267339 HGNC:27121 VALIDATED 7244475 LINC00921 long intergenic non-protein coding RNA 921 INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 16 16 16 p13.3 3519422 3523221 + 3313749 3320201 + 3263768 3267567 + 6480464 12477932;14702039;16344560 283876 ABBA01026738;AI816936;AJ003147;AK096958;AMYH02031287;BC104941;BC104943;DA532447;NR_033904 AAI04942;AAI04944;BAC04912 Hs.592092 1693832;5015619;5037552 D11S3114;D8S2279;SHGC-58951 ncrna ENSG00000006194 HGNC:26830 VALIDATED 1603385 LINC00869 long intergenic non-protein coding RNA 869 INTERACTS WITH benzene 1 1 q21.1 149576262 149672733 + 149607113 149701161 + 6480464 12477932;14702039;16344560;24816145;9455484 57234 P0C866 AB007962;AC242842;AC243772;AK090660;AL358813;AL451058;BC061517;BC073170;BU602007;CB217586;DA711671;HG492724;NR_046135;NR_046136;NR_046137;NR_046138;NR_046139;NR_111950;NR_111951;NR_111952;NR_111953;XR_254365;XR_426842;XR_426843;XR_431279;XR_431280;XR_431281 P0C866 Hs.456578;Hs.573706;Hs.662922 FAM91A2;FLJ97060;FLJ99375;KIAA0493;RP11-403I13.7;RP11-495P10.2 APPROVED ncrna HGNC:29050 VALIDATED 7245391 LINC00910 long intergenic non-protein coding RNA 910 17 17 17 q21.31 38157746 38176800 - 41447213 41466266 - 43369845 43388898 - 14702039;15489334 100130581 ABBA01028418;AC087650;AK123585;AK127427;AK311685;AL832479;AMYH02033457;BC035366;HG509067;HG509068;HG509069;HG509070;NR_027412;NR_027413 BAC85652 Hs.546897;Hs.732952 1733376;1734044;2184470;5015881;5024039;5037552;5109281;5117897 D16S325;D17S1187;D17S1342;D1S1425;D8S2279;GDB:335751;GDB:631813;RH16523 ncrna ENSG00000188825 HGNC:44361 VALIDATED 7245446 LINC00911 long intergenic non-protein coding RNA 911 14 14 85860223 85886418 + 85393879 85420074 + 100996280 AA905171;ABBA01030575;AI688626;AK131026;AL133369;AMYH02029660;AW197808;HG506435;HG506436;NR_102737;NR_102738 Hs.135735;Hs.742397 ncrna ENSG00000259107 HGNC:48596 VALIDATED 7245321 LINC00924 long intergenic non-protein coding RNA 924 ASSOCIATED WITH Lung Neoplasms (inferred) 15 15 15 q26.2 72392542 72467289 + 95976322 96051076 + 95433093 95507847 + 8554872 12477932;14702039;16344560 145820 ABBA01032425;ABBA01032426;AC027013;AC027547;AK057337;AMYH02031112;BC131607;DB021433;HG507471;HG507472;NR_027132;NR_027133 Hs.652702 1700842;5015619;5021872;5022200;5022651;5037552 D11S2921;D11S3114;D8S2279;L18426;RH104047;sY3084 RP11-398J10.1 ncrna ENSG00000259134 HGNC:27081 VALIDATED 7244517 LINC00920 long intergenic non-protein coding RNA 920 16 16 16 50948326 50951938 + 66442427 66444804 + 66408524 66410901 + 14702039;16344560 100505865 ABBA01025405;AC132186;AK056683;AMYH02032203;AW015153;DA813001;NR_046242 Hs.314372 1698722 RH102921 ncrna HGNC:48611 VALIDATED 7244525 LINC00926 long intergenic non-protein coding RNA 926 15 15 15 q21.3 34482836 34490239 + 57592563 57599967 + 57300365 57307769 + 14702039;16344560 283663 ABBA01038994;AC016525;AK090515;AK097083;AK123700;AL713736;AMYH02030519;DB117396;NR_024433 Hs.181297 1688694;2150526;5022322;5037552;7185938 D10S16;D11S2560;D8S2279;RH98862;SHGC-64144 ncrna ENSG00000247982 HGNC:27514 VALIDATED 7245354 LINC00927 long intergenic non-protein coding RNA 927 15 15 15 q25.1 57492866 57571613 - 80555410 80634147 - 80263068 80341805 - 12477932;14702039 283688 ABBA01060624;AC012337;AC016705;AC087761;AK097782;AMYH02030883;BC040586;DB448280;HG507303;NR_033833 Hs.525933 RP11-210M15.3 ncrna ENSG00000259361 HGNC:27522 VALIDATED 7244679 LINC00929 long intergenic non-protein coding RNA 929 15 15 q11.2 26360960 26378184 + 26115813 26133037 + 12477932;22832964 503519 ABBA01048702;AC100836;AI808329;AMYH02030104;BC038777;BX117286;HG506793;HG506794;HG506796;HG506797;NR_038851;NR_038852 Hs.371380 RP11-1084I9.3 ncrna ENSG00000259150 HGNC:48615 VALIDATED 7244887 LINC00923 long intergenic non-protein coding RNA 923 ASSOCIATED WITH Melanoma (inferred) 15 15 15 q26.2 74702174 74833960 - 98285846 98417908 - 97742616 97874429 - 8554872 12477932 91948 ABBA01032404;AC024651;AC027708;AK025311;AMYH02031133;BC105714;BC105715;BC105716;BC105717;LK938412;LK938413;NR_024172;NR_024173 Hs.130423 1338475;1753861;1777126 D15S107;D15S1515;SHGC-108037 ncrna ENSG00000251209 HGNC:28088 VALIDATED 7244977 LINC00922 long intergenic non-protein coding RNA 922 ASSOCIATED WITH Lung Neoplasms (inferred) 16 16 16 q21 49826291 50118739 - 65318402 65610203 - 65284499 65576300 - 8554872 12477932;20379614 283867 ABBA01025392;ABBA01025393;ABBA01025394;ABBA01025395;ABBA01025396;ABBA01025397;AC009055;AC009062;AC092138;AC123909;AMYH02032194;AMYH02032195;AMYH02032196;BC037902;BC104446;BC104447;CH471092;HG508175;HG508176;HG508177;KF456202;NR_027755 EAW83005 Hs.444774 1335902;1727869;2169134 D16S186;D16S3043;G63352 RP11-256I9.1 ncrna ENSG00000261742 HGNC:27545 VALIDATED 7245123 LINC00933 long intergenic non-protein coding RNA 933 15 15 15 61540951 61548939 + 85113880 85123412 + 84570649 84580181 + 16344560;8889548 100506874 AA629286;ABBA01052940;AC048382;AC244519;AK026477;BE859082;BQ429975;CF144159;DB071937;NR_038273;NR_038274 Hs.150824 ncrna HGNC:48625 VALIDATED 7245006 LINC00930 long intergenic non-protein coding RNA 930 15 15 15 q26.1 69522910 69527434 - 93111048 93115493 - 92567818 92572263 - 14702039;16344560;16751776 100144604 ABBA01053092;AC091580;AI149645;AK093148;AL045331;AMYH02031071;DB045163;DB061727;DB337836;DQ572600;DQ579282;DQ579770;DQ582019;DQ582200;DQ583468;DQ583920;DQ584430;DQ584431;DQ586969;DQ591924;DQ593065;DQ593960;DQ594661;DQ595207;DQ600577;HG507432;HG507433;NR_021493 Hs.245476 RP11-304N14.2 ncrna ENSG00000258647 HGNC:48620 VALIDATED 7245307 LINC00934 long intergenic non-protein coding RNA 934 12 12 12 q24.23 119354779 119374316 - 119721630 119741185 - 119283825 119303380 - 12477932;14702039 144742 ABBA01020071;AC084881;AK057497;AMYH02027340;BC101457;BC101458;BC101459;BC118554;BC118632;CH471054;NR_024246 EAW98145 Hs.524782 5037552 D8S2279 ncrna HGNC:27059 VALIDATED 7244653 LINC00928 long intergenic non-protein coding RNA 928 15 15 15 q26.1 66450650 66469760 - 90048161 90067265 - 89504930 89524034 - 12477932 283761 ABBA01053013;AC013391;AMYH02031020;BC039350;BC102002;BC102003;BC102004;BC102005;BC113965;BX103832;HG507396;HG507397;HG507398;NR_027074;NR_027075;NR_027076;NR_027077 Hs.459288 1722119;2150127;2182687 D15S713E;G60102;HSC15C072 RP11-429B14.2 ncrna HGNC:27535 VALIDATED 7244512 LINC00936 long intergenic non-protein coding RNA 936 12 12 12 q21.33 89774400 89777396 + 90102732 90105729 + 89708955 89711952 + 12477932;14702039 338758 ABBA01053417;AC009522;AK094517;AMYH02026905;BC031240;BC040326;BC047477;HG505056;NR_028138 Hs.601766 1744045 GDB:384913 RP11-591N1.1 ncrna ENSG00000271614 HGNC:27883 VALIDATED 7244794 LINC00925 long intergenic non-protein coding RNA 925 15 15 15 q26.1 66323662 66344098 + 89921273 89941718 + 89378042 89398487 + 12477932;14702039 254559 ABBA01053010;ABBA01053011;AC013391;AC133637;AK054710;AK054931;AK096359;AK123792;AK125292;AMYH02031019;BC033240;HG507384;HG507386;HG507387;HG507388;HG507389;HG507390;HG507391;HG507393;HG507394;HG507395;NR_015411 Hs.136313 2113176 D15S1498 ncrna ENSG00000255571 HGNC:27388 VALIDATED 2300993 LINC00937 long intergenic non-protein coding RNA 937 INTERACTS WITH silicon dioxide 12 12 12 p13.31 10075795 10109639 - 8509559 8543348 - 8356963 8390752 - 6480464 12477932 389634 Q8NC93 ABBA01012240;ABBA01012241;AC092745;AC092865;AC247052;AI656939;AK074886;BC044942;BC073935;CH471116;CQ784036;NR_024420 BAC11267;CAF86980;EAW88621 Hs.434403 5022651 D11S2921 APPROVED ncrna ENSG00000226091 HGNC:48629 18395 VALIDATED 7245055 LINC00935 long intergenic non-protein coding RNA 935 INTERACTS WITH silicon dioxide; 1,3-dinitrobenzene (ortholog); indole-3-methanol (ortholog) 12 12 12 q13.12 47917215 47955479 + 49121218 49159569 + 48727435 48765786 + 6480464 12477932 255411 ABBA01031482;ABBA01031483;ABBA01031484;ABBA01031485;AC009775;AC079951;AC117498;AK131005;AMYH02026425;AMYH02026426;BC036043;BC054859;BC146870;BC146877;KF455648;LK938745;LK938746;NR_029448;NR_029449 Hs.404103 1712444;1746325;1749393;1787862;2160765 G54257;G64366;SHGC-111138;SHGC-132667;SHGC-37064 ncrna ENSG00000257987 HGNC:48628 VALIDATED 7245245 LINC00940 long intergenic non-protein coding RNA 940 12 12 12 3646073 3653446 - 2038368 2045742 - 1929202 1936576 - 16344560 100271702 ABBA01048813;ABBA01048814;AC005342;AK296286;AK316036;AMYH02025879;DA269488;NR_036546 BAG58992;BAH14407 Hs.737031 2142962 D12S2045 ncrna ENSG00000235049 HGNC:48634 VALIDATED 7245426 LINC00939 long intergenic non-protein coding RNA 939 12 12 12 q24.31 126049833 126074507 - 126443230 126467920 - 125958684 125983374 - 12477932;14702039 400084 ABBA01060327;AC005186;AK057632;AL137270;AMYH02027490;AMYH02027491;BC057846;HG505308;HG505309;NR_034132 Hs.156191 2152483;5015961;5016478;5020881 D15S1477;GDB:434012;L17709;RH78754 RP5-916L7.1 ncrna ENSG00000249267 HGNC:48631 VALIDATED 7245254 LINC00941 long intergenic non-protein coding RNA 941 12 12 12 p11.21 36090785 36098449 + 30948615 30955645 + 30795681 30802711 + 12477932;16344560 100287314 ABBA01068090;AC010198;AK289874;AMYH02026271;BC072678;DB306709;HG504646;HG504647;KF459781;NR_040245 BAF82563 Hs.355210 5037552 D8S2279 RP11-77I22.3 ncrna ENSG00000235884 HGNC:48635 VALIDATED 7245076 LINC00944 long intergenic non-protein coding RNA 944 12 12 12 q24.32 126820594 126862140 - 127215247 127256808 - 126730701 126772262 - 12477932;16344560 387895 ABBA01060316;AC069235;AMYH02027498;BC040060;DA048939;HG505337;NR_033878 Hs.534660 1341908;1678849;1686816;7183713 D12S307;RH92063;RH92779 RP11-173C20.2 ncrna HGNC:48640 VALIDATED 7245345 LINC00942 long intergenic non-protein coding RNA 942 12 12 12 p13 3216215 3220176 + 1609657 1613590 + 1500491 1504424 + 14702039;20379614 100292680 ABBA01048826;AC004671;AK090616;AMYH02025871;BC019241;BG332174;BQ942184;BQ949914;BQ954540;NR_028415 Hs.391695 1687622;1736270;2184405 D12S1227E;D12S1406;RH91161 ncrna HGNC:48636 VALIDATED 7245912 LINC00948 long intergenic non-protein coding RNA 948 10 10 61496748 61513203 - 59736990 59753445 - 11329013 100507027 AB019391;ABBA01019456;AC022027;AF086308;AMYH02023170;BG210823;BM021470;HG502931;NR_038199;NR_038200 Hs.648790 1689362 RH94047 M1;MUSER1;RP11-59J5.1 ncrna ENSG00000227877 HGNC:48649 VALIDATED 7244899 LINC00938 long intergenic non-protein coding RNA 938 12 12 12 q12 44916439 44918640 - 46119503 46121704 - 45725720 45727921 - 12477932 400027 ABBA01031446;AC008124;AMYH02026403;AX888069;BC008245;BC037237;BC047417;CH471111;NR_028408 CAE93994;EAW57886 Hs.597122 1683447;1778442;2156595 RH80730;SHGC-56814;WI-16886 ncrna HGNC:48630 VALIDATED 4108098 LINC00955 long intergenic non-protein coding RNA 955 4 4 4 p16.3 1685 14138 + 3578596 3592712 + 3576869 3590985 + 12477932;14702039 285492 E7ETJ0 ABBA01029463;ABBA01029464;AK092743;AL121796;AMYH02008633;AX747702;BC131584;CH881024;CR736287;NR_040045 BAC03963;EAW50497 Hs.145563 APPROVED ncrna HGNC:26644 08181 VALIDATED 7245769 LINC00950 long intergenic non-protein coding RNA 950 ASSOCIATED WITH Melanoma (inferred) 9 9 9 p13.3 35793806 35799046 + 35860271 35865515 + 35860274 35865518 + 8554872 14702039;15498874;8619474;9110174 92973 ABBA01064982;AF052116;AF370382;AK054925;AK055303;AL133410;AL832569;AMYH02019466;NR_024006 AAQ15218 Hs.12509 1649289;2137320;2142500;5022651 A003M47;Cda0vb11;D11S2921;SHGC-36744 FP588 ncrna HGNC:28098 VALIDATED 7245594 LINC00957 long intergenic non-protein coding RNA 957 7 7 7 p13 44176646 44180028 + 44078648 44083895 + 44039049 44044296 + 12477932;14702039;16344560 255031 ABBA01058213;AC017116;AK092709;AMYH02015615;BC014556;BC024303;BC064488;BC081571;CH236960;DA066910;DA204840;DA212423;DA293391;DA406714;DA776150;HG500221;NR_015401;NR_072981;NR_072982 Hs.633978;Hs.661253 5022578;5022649;5022651 D11S2875;D11S2921;D1S1423 AC017116.8 ncrna HGNC:22332 VALIDATED 7250164 LINC00945 long intergenic non-protein coding RNA 945 21 q22.11 33057829 33065079 + 101930746 ABBA01057322;AMYH02037730;AP000288;BF204217;HG511738;NR_104056 Hs.580934 AP000288.2 ncrna ENSG00000232539 HGNC:48643 VALIDATED 7245167 LINC00943 long intergenic non-protein coding RNA 943 12 12 127221553 127230802 + 126737007 126746256 + 12477932 100507206 AA400092;ABBA01060316;AC069235;AL567219;AMYH02027498;AY070435;BC039096;DB450910;HG505335;HG505336;NR_038256 AAL65262 Hs.662298 1341908;1678849;1686816;7183713 D12S307;RH92063;RH92779 RP11-173C20.1 ncrna HGNC:48639 VALIDATED 7249385 LINC00958 long intergenic non-protein coding RNA 958 11 11 11 13127151 13137168 - 13001081 13011095 - 12979534 12989548 - 14702039 100506305 ABBA01061126;AC084859;AK001432;AMYH02024347;BQ772479;BQ929741;NR_038904 Hs.153408 1766175;5015961;5037552 D15S1477;D8S2279;SHGC-149549 ncrna ENSG00000251381 HGNC:48671 VALIDATED 7245630 LINC00959 long intergenic non-protein coding RNA 959 10 10 10 q26.3 125533626 125582326 - 131862160 131909081 - 130063896 130110817 - 14702039 387723 ABBA01009124;ABBA01009125;AK094118;AL139123;AMYH02024041;AMYH02024042;AW135007;CH471066;EU250747;KF455300;NR_034125 ACF23537;EAW49158 Hs.127394 2141979;5015961;5022200 D15S1477;L18426;STS-AA036862 ncrna HGNC:48677 VALIDATED 7246751 LINC00961 long intergenic non-protein coding RNA 961 9 9 9 p13.3 35843023 35845160 + 35909480 35911617 + 35909483 35911620 + 12477932;14702039;19240061 158376 ABBA01064979;AK056723;AL135841;AMYH02019467;BC034765;BC113682;BC113684;NR_024283 Hs.302677 2172053 SHGC-33250 ncrna ENSG00000235387 HGNC:27244 VALIDATED 1602151 LINC00951 long intergenic non-protein coding RNA 951 6 6 6 p21.2 41864975 41876630 - 40312084 40323745 - 40344345 40356006 - 12477932;23872665 401260 ABBA01050766;ABBA01050767;AK123643;AL139275;AMYH02013599;BC132803;BC132805;HG499212;NR_038887;R41561 Hs.654837 1644305;1657149;1786086 A002L37;RH78028;SHGC-156247 RP11-552E20.3 APPROVED ncrna HGNC:48662 16954 VALIDATED 7246439 LINC00964 long intergenic non-protein coding RNA 964 8 8 8 q24.13 122142610 122151694 + 125954250 125963337 + 124942008 124951095 + 12477932;14702039;16344560;16751776 157381 ABBA01037906;AC009908;AC100858;AK056899;AMYH02018726;BC033393;BC043249;DB071196;HG501656;HG501658;HG501659;HG501660;HG501661;NR_027321 Hs.638933;Hs.651593 RP11-6D1.6 ncrna ENSG00000249816 HGNC:27226 VALIDATED 7245684 LINC00954 long intergenic non-protein coding RNA 954 2 2 2 p24.1 19930991 19947169 + 20068615 20084808 + 19868854 19885047 + 12477932;14702039;16344560 400946 ABBA01018487;AC013400;AK022396;AK097927;AMYH02003363;BC068572;DB155534;HG493715;HG493716;NR_033875 Hs.289062 1339244;1658881 D9S766;RH45646 AC013400.2 ncrna ENSG00000228784 HGNC:48668 VALIDATED 7246860 LINC00965 long intergenic non-protein coding RNA 965 INTERACTS WITH atrazine 8 8 p23.1 7118141 7121014 - 7260619 7263492 - 12477932;14702039 349196 AF228730;AK090418;AK094835;AMYH02017321;AMYH02017322;AMYH02017323;AMYH02017324;AMYH02017325;BC093747;NR_027000 BAC03399 Hs.559040;Hs.625429 5095804;5126189 D17S1928;SHGC-51374 ncrna HGNC:28022 VALIDATED 7246309 LINC00963 long intergenic non-protein coding RNA 963 9 9 9 102901650 102920073 + 132250939 132275965 + 129488660 129513686 + 11329013;12477932;14702039;24691949 100506190 ABBA01043932;AK024177;AK057050;AK092686;AL353803;AL391056;AMYH02021739;BC019073;BC036842;BC038559;BC044229;BC112296;BC112298;BG192193;DR006520;NR_038955 Hs.529860 1667991;1729886;2127649;2139781;2139783;5014039;5016478;5020946;5022200;5022463;5022578;5022651;5037552 AFMa131wh9;D11S2921;D1S1423;D22S1584;D3S1673;D8S2279;D9S115;GDB:434012;L17971;L18426;RH35902;RH47770;SHGC-34968 ncrna HGNC:48716 VALIDATED 7246217 LINC00967 long intergenic non-protein coding RNA 967 8 8 67104349 67109554 + 66192114 66197319 + 16344560 100505659 ABBA01041870;AC090195;AMYH02018106;BX360434;BX389854;DB379123;HG501297;NR_039979 Hs.529729 1676035 RH79702 RP11-366K18.3 ncrna ENSG00000253138 HGNC:48725 VALIDATED 7245745 LINC00960 long intergenic non-protein coding RNA 960 3 3 p12.3 75721432 75728454 + 75672281 75679303 + 12477932 401074 ABBA01030989;AC108724;AC245159;BC039495;BC111371;HG495809;NR_040004;NR_040005 Hs.528540 1678249 RH78278 RP11-413E6.8 ncrna ENSG00000242516 HGNC:48710 VALIDATED 7246031 LINC00968 long intergenic non-protein coding RNA 968 ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 8 53421676 53463022 - 57430877 57472382 - 56518318 56559823 - 8554872 14702039;16344560 100507632 ABBA01041772;ABBA01041773;AC012349;AC013644;AK055621;AMYH02018020;BF061498;DA589236;HG501187;HG501191;KF458765;NR_038236 Hs.583755 1335996;1644747;1676526;1704976;1772373;2182429 D8S166;D8S1661;D8S444;RH12491;RH92188;SHGC-77990 RP11-16M8.2 ncrna ENSG00000246430 HGNC:48727 VALIDATED 8663355 LINC00969 long intergenic non-protein coding RNA 969 3 3 q29 195423429 195435611 + 195696552 195701527 + 10737800;12477932;16344560;24722188 440993 AC069513;AC233280;AC245434;AK128346;AMYH02008474;BC144457;BG983179;CB046731;DA875776;HG496562;HG496567;KJ535002;NR_122105;XR_427455;XR_430649;XR_430840;XR_430930;XR_430970;XR_430993;XR_431011;XR_431030;XR_431677 BAC87392 Hs.708999;Hs.732717 1654525;1657185;1767301;2164767 SGC33690;SHGC-77679;SHGC-77680;SHGC-77692 ncrna HGNC:48729 18457 VALIDATED 7246996 LINC00973 long intergenic non-protein coding RNA 973 3 3 97091696 97093734 + 98699902 98701876 + 100506377 XR_108458;XR_112526;XR_171397 ncrna HGNC:48868 7246956 LINC00974 long intergenic non-protein coding RNA 974 17 17 q21.31 39705858 39710747 - 41549606 41554495 - 14702039 147093 ABBA01031809;AC019349;AK056318;AMYH02033411;HG509043;NR_038442 Hs.680576 AC019349.2 ncrna ENSG00000226629 HGNC:27105 VALIDATED 7246051 LINC00971 long intergenic non-protein coding RNA 971 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 3 p12.1 85432165 85663645 - 84687556 84918726 - 84638405 84869575 - 8554872 12477932 440970 ABBA01031079;ABBA01031080;ABBA01031081;AC107025;AC117482;AC119039;AMYH02007179;AMYH02007180;AMYH02007181;AMYH02007182;BC068246;HG495826;KF459858;KF459859;NR_033860 Hs.411049 1703608;1721905;1733926;1733948;1733954;1750205;1755057;5014051;5037552;5094318 D3S2542;D3S2554;D3S2557;D8S2278;D8S2279;G54708;G59983;SHGC-112302;SHGC-141997;SHGC-78693 RP11-735B13.1 ncrna ENSG00000242641 HGNC:48737 VALIDATED 7251120 LINC00970 long intergenic non-protein coding RNA 970 ASSOCIATED WITH Lung Neoplasms (inferred) 1 q24.2 168903905 169087005 - 8554872 12477932;23741487 101978719 ABBA01027955;ABBA01027956;ABBA01027957;AL031726;AL135926;AL591862;AMYH02002111;BC041008;HG492905;NR_104091 Hs.517849 RP11-375F2.2 ncrna ENSG00000203601 HGNC:48730 VALIDATED 7247373 LINC00977 long intergenic non-protein coding RNA 977 8 8 8 q24.21 126408000 126432837 - 130228713 130253486 - 129216467 129241240 - 11181995;19656524 728724 ABBA01037962;AC103833;AI822106;AMYH02018775;BX090073;CH471060;HG501697;NR_033916 EAW92118;EAW92119 Hs.49902 RP11-1057N3.1 ncrna ENSG00000250400 HGNC:48902 VALIDATED 7247328 LINC00982 long intergenic non-protein coding RNA 982 1 1 1 p36.32 2174549 2182657 - 2976181 2984289 - 3059617 3067725 - 12477932;21832049;23801869;8889548 440556 ABBA01073667;AK124865;AL008733;AL713743;AL832943;AL833006;AMYH02000133;BC029785;BM931404;CH471248;HG491618;HG491619;HG491620;HG491621;NR_015440;NR_024371 BAC85972;CAD28523;EAW61145 Hs.531041 RP1-163G9.1 ncrna ENSG00000177133 HGNC:48664 VALIDATED 7247352 LINC00987 long intergenic non-protein coding RNA 987 12 12 12 p13.31 10929739 10932786 + 9392599 9395645 + 9240003 9243049 + 14702039 100499405 ABBA01012258;AC010175;AK126248;AMYH02025998;NR_036466 Hs.182314 ncrna ENSG00000237248 HGNC:48911 VALIDATED 7252253 LINC00989 long intergenic non-protein coding RNA 989 4 4 4 q21.21 77709255 77793302 + 80413747 80497614 + 79492593 79576460 + 14702039 100506035 ABBA01063394;ABBA01063395;AC079345;AC092542;AK123913;AMYH02009552;BC047610;HG497021;HG497022;NR_038826 Hs.507664 RP11-234K19.2 ncrna ENSG00000250334 HGNC:48918 VALIDATED 7250101 LINC00992 long intergenic non-protein coding RNA 992 INTERACTS WITH valproic acid 5 5 5 q23.1 112700450 112862317 + 116751208 116915439 + 117415512 117579744 + 6480464 12477932 728342 ABBA01069005;ABBA01069006;ABBA01069007;AC010276;AC027341;AMYH02012031;AMYH02012032;AMYH02012033;AMYH02012034;BC045192;HG498376;KC877076;KF573692;NR_046089 Hs.434420 ncrna HGNC:48943 VALIDATED 7252437 LINC00972 long intergenic non-protein coding RNA 972 7 q21.11 85104543 85118654 + 11329013 100505913 BG220912;XR_108842;XR_132850;XR_133456;XR_171665 Hs.679608 ncrna HGNC:48826 7248139 LINC00996 long intergenic non-protein coding RNA 996 7 7 7 q36.1 144687853 144702336 + 150130742 150145228 + 150433654 150448140 + 12477932;12690205;14702039 285972 AACC02000108;ABBA01035185;AC073111;AK097158;AMYH02017058;BC052099;BC109387;HG500738;NR_034033 EAL24478 Hs.647110 RP11-511P7.2 ncrna ENSG00000242258 HGNC:27800 VALIDATED 7248189 LINC00998 long intergenic non-protein coding RNA 998 FOUND IN integral component of membrane (inferred) 7 7 7 q31.1 107569361 107571225 - 112756773 112758637 - 113116718 113118582 - 12477932 401397 A4D0T7;C9IZ59 ABBA01057836;AC073346;AMYH02016591;BC065765;BC107860;BQ446959;BU630382;BX537645;CH236947;DN995392;LN608150;LN608151;NR_015442;NR_024412 A4D0T7;EAL24371 Hs.117929 ncrna ENSG00000214194 HGNC:48953 VALIDATED 2302188 LINC00999 long intergenic non-protein coding RNA 999 10 10 p11.1 38717074 38741081 + 38428146 38452153 + 16751776 399744 ABBA01001512;ABBA01001513;AK128746;AK293765;AK311605;AL133216;AMYH02022663;BQ000710;DQ599874;NR_024497 BAC87596;BAG57183 Hs.497951 5121336 D17S1929 FLJ59853 APPROVED ncrna HGNC:38537 18408 VALIDATED 7247849 LINC01000 long intergenic non-protein coding RNA 1000 7 7 7 q32.1 123077054 123096813 + 128281295 128301052 + 128641241 128660998 + 12477932;12690205;14702039;16751776 402483 ABBA01057660;AC018638;AC093183;AK093729;AK127273;AK294679;AK302487;AK304049;AMYH02016716;BC047304;BC062355;BC131589;CH236951;DQ577524;DQ584983;DQ589481;NR_024368 BAG57842;BAG63772;BAG64959;EAL23995 Hs.722350;Hs.744076 ncrna HGNC:38541 VALIDATED 7248363 LINC01001 long intergenic non-protein coding RNA 1001 11 11 p15.5 126987 135664 - 126987 131920 - 100133161 AC069287;AK293878;AMYH02024119;AMYH02024120;AMYH02024121;NR_028326 BAG57267 Hs.645398 ncrna HGNC:38540 PREDICTED 1602260 LINC01002 long intergenic non-protein coding RNA 1002 INTERACTS WITH (+)-catechin 19 19 p13.3 197016 202209 - 197016 202209 - 399844 Q6ZQS4 AC010507;AC092299;AK128780;AK303004;AMYH02035099;AMYH02035100;BC117566;LN608696;NR_028324 BAC87609;BAG64137 Hs.356758;Hs.732199;Hs.733048 FLJ56364 APPROVED ncrna HGNC:38538 13506 PREDICTED 7247976 LINC00994 long intergenic non-protein coding RNA 994 3 3 3 p14.1 64080808 64089810 - 64064037 64073039 - 64078361 64087363 - 100287879 ABBA01024311;AC092040;AK125779;AMYH02006951;HG495731;NR_033978 BAC86286 Hs.452789 RP11-129B22.2 ncrna ENSG00000189196 HGNC:48949 VALIDATED 7247990 LINC01003 long intergenic non-protein coding RNA 1003 INTERACTS WITH all-trans-retinoic acid; valproic acid 7 7 7 q36.1 146718359 146719780 + 152161209 152162630 + 152464124 152465545 + 6480464 12477932;8889548 100128822 ABBA01035131;AC005631;AMYH02017090;BC036622;BI755992;BU742627;CF146980;HG500749;NR_027387 Hs.647112 RP5-1129J21.3 ncrna ENSG00000261455 HGNC:48957 VALIDATED 7247955 LINC00997 long intergenic non-protein coding RNA 997 7 7 7 p14.3 32783269 32787902 + 32797898 32802536 + 32758286 32762924 + 14702039 401321 ABBA01056851;AC018645;AF143329;AK092714;AK127989;AMYH02015485;NR_036501 Hs.627604 ncrna HGNC:48952 VALIDATED 7248020 LINC01005 long intergenic non-protein coding RNA 1005 7 7 7 57203631 57209317 - 63484794 63490480 - 64024416 64030102 - 12477932 100506050 ABBA01027969;AC115220;AMYH02015848;BC031977;BC038424;DB525991;NR_039987 Hs.405628 ncrna HGNC:48963 VALIDATED 7247893 LINC01006 long intergenic non-protein coding RNA 1006 7 7 7 150692228 150825634 - 156264793 156395889 - 156472099 156603195 - 11181995;12690205;16341674 100506380 ABBA01032376;ABBA01032377;ABBA01032378;AC005534;AC073871;AMYH02017146;AMYH02017147;BM793926;BU932175;BX103419;CH236954;CH471149;NR_103858 EAL23918;EAX04548;EAX04549 Hs.721001;Hs.741680 ncrna ENSG00000182648 HGNC:48971 VALIDATED 7248383 LINC01007 long intergenic non-protein coding RNA 1007 7 7 7 96216642 96220275 - 101206035 101212286 - 101562755 101569006 - 12477932;16344560;8619474;9110174;9847074 100506527 ABBA01011320;AC004953;AF131787;AMYH02016410;BC027906;BC039094;DA533941;HG500457;NR_103747;NR_103748;NR_103749 Hs.535863 RP5-1059M17.1 ncrna ENSG00000233123 HGNC:48973 VALIDATED 7248331 LINC01010 long intergenic non-protein coding RNA 1010 6 6 6 q23.2 135499718 135566175 + 134758854 134825158 + 134437716 134504020 + 14702039;16344560;21768215 154092 AA952986;ABBA01025854;AK055166;AL078590;AMYH02014532;BC041589;DA244667;DA265202;DA291077;DA419376;DA420003;HG499655;NR_038216;NR_038217;NR_038218;NR_038219 Hs.223718 RP11-557H15.2 ncrna HGNC:48978 VALIDATED 1602155 LINC01011 long intergenic non-protein coding RNA 1011 6 6 6 p25.2 4217216 4220420 + 2988201 2991405 + 2987967 2991171 + 12477932;14702039;16344560 401232 Q96NM8 ABBA01048622;AK055096;AK123663;AL133351;AMYH02012989;BC108683;BC137372;BQ025114;BX640709;DA076107;HG498913;NR_026855;NR_026856 BAB70854;CAE45828 Hs.720158 2165988 WIAF-1583 DKFZP686I15217;RP1-90J20.7 APPROVED ncrna ENSG00000244041 HGNC:33812 16819 VALIDATED 7247996 LINC01013 long intergenic non-protein coding RNA 1013 6 6 6 133202428 133237417 + 132455118 132490514 + 132133978 132169374 + 11329013 100507254 ABBA01025881;ABBA01025882;AF086187;AL021408;AMYH02014499;BC040870;BG195633;HG499635;NR_038981 Hs.103070 RP3-523C21.1 ncrna HGNC:48987 VALIDATED 7247871 LINC01012 long intergenic non-protein coding RNA 1012 6 6 6 29267870 29282949 + 27661814 27678001 + 27694035 27710222 + 12477932 100507173 ABBA01038005;ABBA01038006;ABBA01038007;AL009179;AL120625;AMYH02013388;BC035101;BI771077;NR_038292;NR_038293;NR_038294 Hs.635987;Hs.733567 ncrna HGNC:48986 VALIDATED 7247744 LINC01004 long intergenic non-protein coding RNA 1004 INTERACTS WITH (+)-catechin 7 7 q22.1 104622194 104631612 - 104981747 104991165 - 12477932;14702039 100216546 ABBA01057962;AC007384;AK092446;AK123595;AK126130;AMYH02016466;BC041969;NR_039981 Hs.369356 ncrna HGNC:48961 VALIDATED 6481046 LINC01014 long intergenic non-protein coding RNA 1014 3 3 q26.32 178136989 178175093 + 178419201 178457305 + 11181995 100874330 ABBA01058548;AC024220;AMYH02008211;BX105665;HG496347;HG496349;NR_046786 Hs.201902 KCNMB2-IT1;RP11-33A14.2 APPROVED ncrna ENSG00000223941 HGNC:41353 PREDICTED 7248069 LINC01016 long intergenic non-protein coding RNA 1016 6 6 33857288 33864684 - 33889511 33896907 - 12477932;14702039 100507584 ABBA01038163;AK057709;AL138889;AMYH02013503;BC034285;BC042121;CR745530;HG499174;NR_038989 Hs.547104 RP3-468B3.3 ncrna ENSG00000249346 HGNC:48991 VALIDATED 7248225 LINC01015 long intergenic non-protein coding RNA 1015 6 6 p21.33 29497183 29501345 + 29529406 29533568 + 14702039;16344560;16751776 100507362 ABBA01038032;AK097713;AK126097;AL662826;AL662860;AMYH02013412;BX000531;BX247947;BX927223;CD358111;CR759768;CR759770;CR788300;DB050954;DB052894;HG499088;HG499089;NR_037179;NR_037180;NR_037181 Hs.99161 ncrna ENSG00000224582 HGNC:48988 VALIDATED 7252738 LINC00993 long intergenic non-protein coding RNA 993 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 p11.21 37597432 37635957 + 37309186 37347029 + 8554872 101929520 ABBA01033303;AI733546;AI791937;AL157387;AMYH02022653;AMYH02022654;AW451986;BX102924;HG502817;HG502818;HG502819;NR_104061 Hs.144151 RP11-20F24.4 ncrna ENSG00000235687 HGNC:48948 VALIDATED 8661333 LINC01017 long intergenic non-protein coding RNA 1017 5 p15.33 3496372 3504004 - 102467075 ABBA01009408;AC026743;AMYH02010785;BQ428982;HG497683;NR_104618 Hs.652949 ncrna ENSG00000250716 HGNC:50641 VALIDATED 7247934 LINC01018 long intergenic non-protein coding RNA 1018 5 5 5 p15.31 6609338 6615669 + 6582287 6588613 + 6582136 6588500 + 12477932;14702039;16344560 255167 ABBA01016148;AC027334;AK125283;AMYH02010806;BC043253;BC106918;BC106919;BI602592;BX102675;DA240476;DB572334;HG497712;HG497714;NR_024423;NR_024424 Hs.435515 ncrna ENSG00000250056 HGNC:27394 VALIDATED 7247826 LINC01020 long intergenic non-protein coding RNA 1020 ASSOCIATED WITH Melanoma (inferred) 5 5 5 p15.32 5060736 5096371 + 5034472 5070117 + 5034359 5070004 + 8554872 12477932 340094 ABBA01016132;AC010451;AMYH02010795;BC042977;BC113532;BC113534;HG497698;HG497699;HG497700;HG497701;KC876922;NR_026994 Hs.665092 ncrna ENSG00000215231 HGNC:27968 VALIDATED 7254892 LINC01021 long intergenic non-protein coding RNA 1021 INTERACTS WITH valproic acid 5 5 p14.1 27472399 27496508 + 27472292 27496401 + 6480464 12477932 643401 ABBA01066671;AC093533;AC113355;AMYH02011071;AMYH02011072;BC039509;BC046201;BC101438;BC101982;BC122523;CQ819099;CQ819101;HG497836;HG497837;HG497838;NR_038848 CAG34333;CAG34334 Hs.533212 RP11-46C20.1 ncrna ENSG00000250337 HGNC:48995 VALIDATED 7248649 LINC01028 long intergenic non-protein coding RNA 1028 17 17 q24.3 68047416 68064236 + 70051271 70068095 + 101928141 ABBA01028927;AC005208;AI280429;AMYH02033895;AMYH02033896;BX647864;HG509380;HG509381;NR_104129;NR_104130 Hs.639899 RP11-1064E11.1;TCONS_00025127 ncrna ENSG00000267603 HGNC:49014 VALIDATED 7248528 LINC01023 long intergenic non-protein coding RNA 1023 5 5 108063526 108063962 - 108727825 108728261 - 12477932;14702039;21697133 100652853 AB593118;ABBA01069101;AC034207;AK126449;AMYH02011941;BC011940;BF972671;CH471086;NR_046368 BAJ84058;EAW49059 Hs.133009 HP07349 ncrna ENSG00000272523 HGNC:49004 VALIDATED 7248498 LINC01024 long intergenic non-protein coding RNA 1024 5 5 5 135558321 135563966 - 139482507 139487597 - 140102922 140108012 - 12477932;16344560 100505636 ABBA01026440;AC011379;AL557445;AMYH02012325;BC042448;BG772617;DA277756;DB451602;HG498541;HG498542;HG498543;NR_102739;NR_102740;NR_102741 Hs.438871 ncrna ENSG00000245146 HGNC:49009 VALIDATED 7248623 LINC01029 long intergenic non-protein coding RNA 1029 18 18 q23 75682595 75705683 - 77971294 77993727 - 101927715 ABBA01000937;ABBA01000938;AC134978;AMYH02035037;BC016792;BF183892;NR_104127 Hs.385670;Hs.737756 ncrna HGNC:49015 VALIDATED 9068521 LINC01031 long intergenic non-protein coding RNA 1031 1 1 q31.2 193318263 193324907 + 193348611 193355777 + 101929184 ABBA01027635;AI147111;AL358857;AMYH02002385;BX100123;NR_125789;XR_241166;XR_248650;XR_250919 Hs.146728;Hs.738214 TCONS_00000361 ncrna HGNC:49017 VALIDATED 9586235 LINC01032 long intergenic non-protein coding RNA 1032 ASSOCIATED WITH Lung Neoplasms (inferred) 1 q31.2 192937342 192955008 - 8554872 102724954 ABBA01027637;AL359390;AMYH02002380;AW104394;HG493040;NR_126003;XR_425061;XR_425062;XR_426881;XR_426882;XR_431321;XR_431322 Hs.243488 ncrna HGNC:49018 VALIDATED 7249716 LINC01030 long intergenic non-protein coding RNA 1030 8 q21.3 90592775 90606063 - 101937451 AB015752;ABBA01037409;AMYH02018395;BU568440;HG501447;NR_104062 Hs.583685 AB015752.4 ncrna ENSG00000253799 HGNC:49016 VALIDATED 7249625 LINC01019 long intergenic non-protein coding RNA 1019 ASSOCIATED WITH Lung Neoplasms (inferred) 5 5 5 p15.33 3449517 3567581 - 3417266 3536208 - 3417152 3536094 - 8554872 12477932;16344560 285577 ABBA01009407;ABBA01009408;ABBA01009409;AC016595;AC026743;AMYH02010785;AMYH02010786;BC035019;BC110532;BC122538;DB097708;HG497681;NR_033898 Hs.582442 RP11-121L11.1 ncrna ENSG00000248118 HGNC:27742 VALIDATED 9068859 LINC01038 long intergenic non-protein coding RNA 1038 13 q31.1 79804362 79805682 + 102724076 ABBA01021695;AI799053;AL355595;AMYH02028341;BX103217;NR_125785;XR_424456;XR_429262;XR_432931 Hs.208617 ncrna ENSG00000229011 HGNC:49026 VALIDATED 8699246 LINC01046 long intergenic non-protein coding RNA 1046 q12.11 103689843 AL158032;AW117237;NR_125745 Hs.524902 ncrna HGNC:49040 VALIDATED 8698788 LINC01050 long intergenic non-protein coding RNA 1050 q14.11 103689845 AL138819;CD367180;NR_125747 Hs.422131 ncrna HGNC:49044 VALIDATED 8548433 LINC01049 long intergenic non-protein coding RNA 1049 13 13 91145542 91187596 + 90493288 90535342 + 101927224 ABBA01027248;AL162712;AMYH02028465;BC038529;HG505810;KF455811;NR_120414;XR_243053;XR_247964;XR_253192 Hs.385801 RP11-158A8.1 ncrna HGNC:49043 VALIDATED 9068563 LINC01055 long intergenic non-protein coding RNA 1055 q14.13 103752581 AL139320;BG431110;NR_125786 ncrna HGNC:49049 VALIDATED 8662706 LINC01053 long intergenic non-protein coding RNA 1053 13 q12.13 25181332 25189510 + 21697133 102723318 AB593160;AL359757;AMYH02027718;BU176203;HG505470;NR_120427;XR_429227;XR_432911 Hs.549877 ncrna HGNC:49047 VALIDATED 8699103 LINC01058 long intergenic non-protein coding RNA 1058 q12.3 8889548 103724387 AL161893;CF138692;HY060585;NR_125771 ncrna HGNC:49061 VALIDATED 7249959 LINC01056 long intergenic non-protein coding RNA 1056 20 20 20 58345942 58362692 + 61669363 61685215 + 63038011 63053863 + 12477932;22219177 100144597 ABBA01021379;ABBA01021380;AL121673;AMYH02037448;BC038718;HG511536;NR_033369 Hs.636485 RP11-305P22.5 ncrna ENSG00000237119 HGNC:49050 PREDICTED 7257625 LINC01057 long intergenic non-protein coding RNA 1057 1 1 p21.3 95184344 95207970 - 94657533 94820281 - 12477932 101928079 ABBA01045504;ABBA01045505;ABBA01045506;AC093117;AC093429;AL391555;AMYH02001509;BC030750;HG492276;HG492279;HG492280;HG492281;NR_104131 Hs.596857 RP11-86H7.1 ncrna ENSG00000224081 HGNC:49057 VALIDATED 7249497 LINC01043 long intergenic non-protein coding RNA 1043 13 13 q34 112967781 112976072 + 112313467 112321758 + 101928752 ABBA01019845;AC238892;AL162499;AMYH02028727;BX649107;XR_245846;XR_247970;XR_253218;XR_430705 Hs.513113 ncrna ENSG00000260343 HGNC:49031 MODEL 9068550 LINC01065 long intergenic non-protein coding RNA 1065 13 q14.3 53146442 53148365 - 16344560 102723875 ABBA01037063;AL136359;AMYH02028053;DB043011;NR_125788;XR_424452;XR_429258;XR_432927 Hs.149083 ncrna HGNC:49103 VALIDATED 8698721 LINC01068 long intergenic non-protein coding RNA 1068 q31.1 16344560 103724388 AA961175;BX091945;DA831045;NR_125772 Hs.434862;Hs.578059 ncrna HGNC:49106 VALIDATED 8699490 LINC01048 long intergenic non-protein coding RNA 1048 q13.3 103695431 BX091314;NR_125762 Hs.550637 ncrna HGNC:49042 VALIDATED 7286670 LINC01060 long intergenic non-protein coding RNA 1060 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 4 q35.2 186683554 186830131 + 189340364 189585581 + 188455578 188601908 + 8554872 14702039;16344560 401164 ABBA01070594;ABBA01070595;AC093789;AC114759;AC208866;AI264253;AK095968;AMYH02010715;AMYH02010716;AMYH02010717;AY494056;DA579097;HG497632;HG497634;HG497635;HG497636;NR_033869 Hs.435756 RP11-219G10.3 ncrna ENSG00000249378 HGNC:49081 VALIDATED 7310291 LINC01063 long intergenic non-protein coding RNA 1063 3 3 196358369 196359509 - 196631498 196632638 - 101929769 ABBA01033748;AC023797;AMYH02008492;XR_246052;XR_249552;XR_251530 ncrna ENSG00000232065 HGNC:49092 MODEL 7321929 LINC01069 long intergenic non-protein coding RNA 1069 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 q22.3 78555981 78571963 - 77979766 77994773 - 8554872 14702039 101927176 ABBA01021671;ABBA01021672;AK090854;AL139002;AMYH02028323;HG505766;NR_108076 Hs.116150 RP11-318G21.2 ncrna HGNC:49109 VALIDATED 7294594 LINC01061 long intergenic non-protein coding RNA 1061 4 4 q26 120326678 120331815 - 119405523 119410660 - 14702039;16344560;16751776 401149 ABBA01044708;AC093752;AK294946;AMYH02009989;DB064230;DB089310;DQ574622;DQ574672;DQ594568;DQ599768;NR_037596 BAG58021 Hs.448518;Hs.531400 ncrna HGNC:49084 VALIDATED 9068491 LINC01075 long intergenic non-protein coding RNA 1075 q21.31 103752583 AL160151;AL354803;HY186738;NR_125787 Hs.578048 ncrna HGNC:49118 VALIDATED 7323857 LINC01080 long intergenic non-protein coding RNA 1080 13 q31.1 80011077 80026663 + 16344560;23065742;25019275 101515984 ABBA01021697;AL158064;AMYH02028346;AMYH02028347;DA225206;DA346981;NR_104138 Hs.569290 TCONS_00021856 ncrna HGNC:49123 615230 VALIDATED 7284110 LINC01059 long intergenic non-protein coding RNA 1059 q24.1 10737800 102031123 BX363284;CV373778 Hs.738493 ncrna HGNC:49074 7302269 LINC01070 long intergenic non-protein coding RNA 1070 13 13 q34 112851664 112855314 + 112197333 112201000 + 101928698 ABBA01019843;ABBA01019844;AL162499;AMYH02028727;CR627049;HY055056;NR_108094 Hs.528451 ncrna HGNC:49110 VALIDATED 7383194 LINC01088 long intergenic non-protein coding RNA 1088 4 4 4 77188531 77525625 + 79892902 80229953 + 78971748 79308799 + 8889549 100505875 AA195044;ABBA01063389;ABBA01063390;ABBA01063391;ABBA01063392;AC023277;AC093841;AC108466;AC114796;AMYH02009545;AMYH02009546;AMYH02009547;AMYH02009548;AMYH02009549;AMYH02009550;AMYH02009551;BC036848;HG497010;HG497011;HG497012;KF457779;NR_038342 Hs.480055 RP11-438E5.1 ncrna HGNC:49148 VALIDATED 7369406 LINC01093 long intergenic non-protein coding RNA 1093 4 4 4 183142671 183149131 - 185814153 185820615 - 184893000 184899461 - 14702039;16712791 100506229 ABBA01070522;AC084871;AK096134;AMYH02010656;AY429594;AY429595;CB153796;HG497600;HG497601;NR_039975;NR_039976;NR_039977 Hs.378150 RP11-701P16.4 ncrna HGNC:49218 VALIDATED 7382143 LINC01091 long intergenic non-protein coding RNA 1091 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 4 q28.1 121956429 122234005 + 124573940 124851518 + 123652785 123930363 + 8554872 12477932 285419 ABBA01044758;ABBA01044759;ABBA01044760;ABBA01044761;AC093767;AC096732;AC108075;AMYH02010029;AMYH02010030;BC033378;BC046914;BC053945;CK821624;HG497223;HG497224;HG497225;NR_027105;NR_027106 Hs.535763 RP11-93L9.1 ncrna ENSG00000249464 HGNC:27721 PREDICTED 7846058 LINC01089 long intergenic non-protein coding RNA 1089 12 12 12 q24.31 121869422 121877643 - 122233173 122241589 - 121795267 121803484 - 12477932;14702039 338799 ABBA01020183;AC084018;AK094482;AK095700;AK311480;AMYH02027401;AMYH02027402;BC038786;HG505263;HG505264;HG505265;HG505266;HG505267;HG505268;HG505269;HG505272;HG505273;NR_002809 BAC04367 Hs.524804 ncrna ENSG00000212694 HGNC:27886 PREDICTED 7352685 LINC01085 long intergenic non-protein coding RNA 1085 4 4 4 p15.33 14579748 14607843 + 14113592 14141676 + 14111968 14140052 + 12477932;14702039 152742 ABBA01032549;AC073848;AI031657;AI472966;AK055518;AK311310;AMYH02008786;BC121142;BC121143;DB481652;HG496743;HG496746;KF457735;KF457737;NR_033931 Hs.135435 RP11-341G5.3 ncrna ENSG00000248698 HGNC:27198 VALIDATED 7317661 LINC01082 long intergenic non-protein coding RNA 1082 16 16 16 q24.1 70532985 70536519 + 86229787 86233326 + 86196181 86199720 + 100506542 AA399680;ABBA01034294;AC135012;AI676062;AMYH02032606;BP423579;NR_103859 Hs.111902 TCONS_00024492 ncrna ENSG00000269186 HGNC:49125 614978 VALIDATED 7381322 LINC01094 long intergenic non-protein coding RNA 1094 4 4 79567148 79605655 + 78645994 78684501 + 12477932;14702039;16344560;16712791;22558069 100505702 ABBA01063383;ABBA01063384;AC112253;AK057213;AK124062;AK130099;AMYH02009543;BC040182;BC044613;CB155346;DA199752;HG497003;HG497004;HG497005;HG497006;HG497007;HG497008;NR_038303;NR_038304;NR_038305;NR_038306;NR_038307;NR_038308 Hs.235795 RP11-792D21.2 ncrna HGNC:49219 VALIDATED 7325895 LINC01081 long intergenic non-protein coding RNA 1081 ASSOCIATED WITH Lung Neoplasms (inferred) 16 q24.1 86225580 86286247 - 8554872 24842713 101154687 ABBA01034294;ABBA01034295;ABBA01034296;AC040170;AMYH02032606;CR737045;HG508418;HY035025;NR_104139 Hs.640512 RP11-514D23.2;TCONS00024764;TCONS_00024764 ncrna HGNC:49124 614977 VALIDATED 7371879 LINC01096 long intergenic non-protein coding RNA 1096 4 4 4 p15.33 14013909 14015657 - 13547700 13549448 - 13546076 13547824 - 12477932 285548 ABBA01032544;AC006445;AK058104;AMYH02008784;BC035174;BC048110;BC053955;BG722070;NG_023192;NR_015450 Hs.529284;Hs.745454 ncrna HGNC:27739 VALIDATED 7373653 LINC01097 long intergenic non-protein coding RNA 1097 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 4 p15.33 13994152 13999250 - 13527943 13533041 - 13526319 13531417 - 8554872 14702039 285547 ABBA01032543;ABBA01032544;AC006445;AK096368;AK311420;AMYH02008784;BC035722;NR_034054 Hs.381892 ncrna HGNC:27738 VALIDATED 7382305 LINC01100 long intergenic non-protein coding RNA 1100 3 3 3 q25.33 158155568 158170960 + 159733817 159749210 + 160020649 160031423 + 21399635 730109 C9J6S1 AA453488;AA453489;ABBA01058800;AC010370;AMYH02008013;AW117434;CH471052;LN607991;NR_104132 EAW78654 Hs.99333 ncrna HGNC:49224 VALIDATED 2304155 LINC01101 long intergenic non-protein coding RNA 1101 2 2 2 q14.2 114546830 114548844 - 121221911 121223925 - 120464335 120466349 - 12477932;14702039 84931 Q96K35 ABBA01032225;AC073257;AK027722;AMYH02004664;BC112205;BC113708;CH471103;NR_027181 AAX93136;BAB55323;EAW95244 Hs.334519 5493271 UniSTS:485545 FLJ14816;MGC138410 APPROVED ncrna ENSG00000280409 HGNC:25923 08604 VALIDATED 7367685 LINC01102 long intergenic non-protein coding RNA 1102 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 2 q12.1 99252004 99330413 + 105050805 105129215 + 104434347 104512757 + 8554872 12477932;14702039;16344560 150568 ABBA01073880;ABBA01073881;AC013402;AC068535;AK055090;AK126958;AL137513;AMYH02004459;BC105699;BC105700;BC105701;BC105702;DA506317;HG494395;NR_015399 Hs.107284 AC013402.2 ncrna ENSG00000235597 HGNC:27165 VALIDATED 7380253 LINC01103 long intergenic non-protein coding RNA 1103 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 q12.1 105104914 105126967 - 104488456 104510509 - 8554872 101927360 ABBA01073881;AC013402;AC068535;AMYH02004459;BC040913;HG494396;NR_110113 Hs.650324 AC068535.4 ncrna ENSG00000234781 HGNC:49225 VALIDATED 7385109 LINC01087 long intergenic non-protein coding RNA 1087 2 2 q21.1 132394598 132407188 + 131637025 131649615 + 12477932 101927994 ABBA01028227;AC093838;AMYH02004811;BC036114;NR_108087 Hs.635757 ncrna ENSG00000224559 HGNC:49144 VALIDATED 7386797 LINC01095 long intergenic non-protein coding RNA 1095 4 4 4 144350076 144362534 - 147030607 147043065 - 146109455 146121913 - 12477932;14702039;16344560 100505545 ABBA01070043;AC097372;AK057233;AMYH02010261;BC033400;DB019632;DB525674;HG497357;HG497358;NR_038331 Hs.122199 RP11-6L6.3 ncrna ENSG00000248809 HGNC:49220 VALIDATED 7380793 LINC01104 long intergenic non-protein coding RNA 1104 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 2 q11.2 95029258 95072481 + 100824716 100867946 + 100208254 100251484 + 8554872 12477932;14702039;17554260;20453842;24390342 150577 ABBA01073935;AC104782;AK056640;AMYH02004413;BC105017;BC105019;HG494361;NR_103730 Hs.434127 AC104782.3 ncrna ENSG00000232084 HGNC:49226 VALIDATED 2303661 LINC01105 long intergenic non-protein coding RNA 1105 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 2 p25.2 5986934 6034463 + 6072819 6120350 + 5932687 5980218 + 8554872 12477932;14702039;16344560 150622 Q96NM1 ABBA01023889;AC073479;AC079770;AK055156;AK091363;AK124750;AL713643;AMYH02003221;BC093858;BX648932;CH471053;DA139711;NR_026832 AAX93109;BAB70863;CAH10597;EAX01046 Hs.560891 1734976;1734990;1857854;2121398;2131938;2149125;2181722;5493139 A004Z09;D2S1721E;D2S1728E;RH69963;SHGC-36413;UniSTS:484416;WI-14678;WI-22274 DKFZp761K2322;MGC120893 APPROVED ncrna HGNC:26403 08087 VALIDATED 7365521 LINC01107 long intergenic non-protein coding RNA 1107 2 2 2 q37.3 233131810 233175350 - 239419331 239464140 - 238510690 238555499 - 12477932;14702039 151171 ABBA01042606;AC092619;AK057376;AMYH02006074;BC101453;BC101454;BC101455;BC101456;HG495347;NR_037809 Hs.652076 AC092619.1 ncrna ENSG00000225493 HGNC:49229 VALIDATED 7368781 LINC01111 long intergenic non-protein coding RNA 1111 ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 77318889 77436591 + 76406654 76524356 + 8554872 101926978 ABBA01041996;AC067773;AMYH02018250;BC015449;HG501360;NR_105006 Hs.615028 RP11-706J10.1 ncrna ENSG00000254300 HGNC:49237 VALIDATED 7375246 LINC01098 long intergenic non-protein coding RNA 1098 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 4 q34.3 175976934 176239057 + 178649911 178911904 + 177728757 177990750 + 8554872 12477932;19913121;20379614;20628086;9847074 285501 G5E9X9 ABBA01070434;ABBA01070435;ABBA01070436;ABBA01070437;AC019170;AC021850;AC109519;AMYH02010568;AMYH02010569;AMYH02010570;BC033326;BC113482;BC113484;CH471056;KF457838;KF457846;KF457847;LN608020;NR_028342 EAX04710 Hs.722466 ncrna ENSG00000231171 HGNC:27731 VALIDATED 7368611 LINC01114 long intergenic non-protein coding RNA 1114 2 2 2 q12.1 99564316 99575398 - 105363095 105374177 - 104746637 104757719 - 14702039 284998 ABBA01073875;AC068057;AK090794;AK096621;AMYH02004464;CA415523;HG494402;NR_038231 Hs.410180 AC068057.2 PANCAT ncrna ENSG00000234177 HGNC:49245 VALIDATED 7366250 LINC01109 long intergenic non-protein coding RNA 1109 q21.11 14702039 102216341 AK124684 Hs.49127 lncRNA-N1 ncrna HGNC:49235 7382811 LINC01108 long intergenic non-protein coding RNA 1108 6 p23 14280127 14285454 - 14702039;22193719 102216342 ABBA01022140;AK056826;AL353152;AMYH02013149;CX756078;HG499008;NR_108096;NR_108097 Hs.563409 LncRNA-ES1;RP11-359N11.2 ncrna ENSG00000226673 HGNC:49234 VALIDATED 7382801 LINC01099 long intergenic non-protein coding RNA 1099 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 q34.3 178733200 178829090 - 177812046 177907936 - 8554872 101928656 ABBA01070435;ABBA01070436;ABBA01070437;AC019170;AC021850;AC109519;AMYH02010568;BI439083;BM504346;KF457846;NR_108092;NR_108093 Hs.508131 ncrna ENSG00000251504 HGNC:49222 VALIDATED 7380104 LINC01115 long intergenic non-protein coding RNA 1115 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 2 p25.3 843010 931435 - 779837 864112 - 779840 868426 - 8554872 12477932 339822 ABBA01035635;ABBA01035636;ABBA01035637;AC113607;AC116609;AMYH02003166;AMYH02003167;AMYH02003168;BC043553;BC128382;BC128434;BC128532;HG493477;HG493478;NR_033880;NR_111963 Hs.651879 AC113607.1 ncrna ENSG00000237667 HGNC:49258 VALIDATED 7365532 LINC01116 long intergenic non-protein coding RNA 1116 INTERACTS WITH all-trans-retinoic acid 2 2 2 q31.1 171097103 171158479 - 177494309 177502302 - 176629581 176637574 - 6480464 12477932 375295 ABBA01062224;AC017048;AC079803;AC092162;AI766085;AMYH02005301;AMYH02005302;BC013438;BC013588;BE908176;BF029957;HG494924;HG494925;KF456742;KF456744;NR_040001 AAH13438 Hs.636452 AC017048.3 ncrna HGNC:49259 VALIDATED 7378832 LINC01118 long intergenic non-protein coding RNA 1118 2 2 2 p21 46882438 46888429 + 47043807 47049799 + 46816668 46822660 + 12477932 388948 B8ZZR3;B8ZZS1 ABBA01075143;AC016722;AMYH02003742;BC062774;BC092505;BQ013369;LN607916;LN607917;NR_034099 Hs.728895 ncrna ENSG00000222005 HGNC:49261 VALIDATED 7371859 LINC01121 long intergenic non-protein coding RNA 1121 2 2 2 p21 45239820 45320423 - 45401480 45482080 - 45174341 45254941 - 12975309;14702039 400952 ABBA01075125;AC009236;AK095550;AMYH02003716;AMYH02003717;AMYH02003718;AW291903;AY358255;NR_033831 AAQ88622 Hs.468368 1763189;1783188;1786294;5014051;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;L18426;SHGC-142866;SHGC-146915;SHGC-153349 UNQ6975 ncrna ENSG00000205054 HGNC:49266 VALIDATED 7383653 LINC01123 long intergenic non-protein coding RNA 1123 2 2 q13 110744557 110752858 + 109986980 109995281 + 12477932;14702039;15342556;16344560 440894 ABBA01230277;AC013268;AK056084;AMYH02004544;AMYH02004545;AMYH02004546;BC101448;BP247062;DA999847;HG494457;NR_046110;NR_046111;NR_046112 Hs.516403 AC013268.5 ncrna ENSG00000204588 HGNC:49269 VALIDATED 1606360 LINC01124 long intergenic non-protein coding RNA 1124 2 2 2 q31.1 165185617 165187745 - 171568949 171571077 - 170712439 170714567 - 12477932 440925 E9PB92;Q6ZW80 ABBA01014917;AC007405;AK123485;AMYH02005208;BC132926;BC132928;NR_027433 BAC85625 Hs.668461 APPROVED ncrna ENSG00000222033 HGNC:49270 18455 VALIDATED 7384082 LINC01119 long intergenic non-protein coding RNA 1119 2 2 2 p21 46893633 46924768 + 47055003 47086145 + 46827864 46859006 + 14702039 100134259 C9J0P5 ABBA01075143;AC016722;AK092497;AMYH02003742;BC017573;LN607919;NR_024452 Hs.114449 ncrna ENSG00000239332 HGNC:49262 VALIDATED 7377872 LINC01122 long intergenic non-protein coding RNA 1122 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 2 p16.1 58591257 59134274 + 58747888 59290901 + 58520753 59063766 + 8554872 14702039;21460842;21668797;23055271;23563607;24159190 400955 ABBA01075310;ABBA01075311;ABBA01075312;ABBA01075313;AC007077;AC007092;AC007252;AC007367;AC107076;AK055400;AL534733;AL832565;AMYH02003892;AMYH02003893;HG493999;HG494000;HG494001;HG494002;HG494004;HG494005;KF456662;KF456665;NR_033873 Hs.503210 AC007092.1 ncrna ENSG00000233723 HGNC:49267 VALIDATED 7492439 LINC01112 long intergenic non-protein coding RNA 1112 q21.11 14702039 102578075 AK055040 Hs.592625 lncRNA-N3 ncrna HGNC:49238 7371926 LINC01125 long intergenic non-protein coding RNA 1125 2 2 2 q11.2 92496293 92523496 + 98286206 98319529 + 97669743 97703066 + 12477932;16344560 728537 AA448462;ABBA01073975;AC017099;AI637498;AMYH02004375;AMYH02004376;AMYH02004377;BC039374;DB066031;HG494329;HG494330;HG494331;HG494332;HG494333;HG494334;HG494335;HG494336;HG494337;HG494338;HG494339;HG494340;HG494341;HG494342;HG494343;HG494344;HG494345;HG494346;HG494348;HG494350;HG494351;HG494352;HG494353;HG494355;HG494356;LK937776;NR_038386 Hs.469369 AC017099.3 ncrna ENSG00000228486 HGNC:49272 VALIDATED 7366364 LINC01120 long intergenic non-protein coding RNA 1120 2 2 2 q21.1 125883138 125888465 + 132160474 132165801 + 131402901 131408228 + 12477932;16751776 389043 ABBA01028239;AC073869;AK125982;AMYH02004808;AW628609;BC042817;BC087855;DQ578917;DQ594119;HG494608;NR_036499 Hs.586791 AC073869.19 ncrna HGNC:49265 VALIDATED 7384098 LINC01127 long intergenic non-protein coding RNA 1127 2 2 2 q12.1 96801138 96802778 + 102578518 102602007 + 101983465 101985545 + 14702039;16344560 100506328 ABBA01073900;ABBA01073901;AC005035;AK055877;AMYH02004434;DA382478;DA632880;DB124570;DB153872;NR_103791 Hs.516245 ncrna HGNC:49292 VALIDATED 7372274 LINC01126 long intergenic non-protein coding RNA 1126 2 2 2 p21 43293804 43295448 + 43454350 43455994 + 43227211 43228855 + 12477932 100129726 ABBA01075087;AC010883;AMYH02003692;AW297558;BC032412;CH471053;CR738297;NR_027251 AAH32412;AAY14993;ABM82493;ABM85683;EAX00304 Hs.194480 ncrna ENSG00000279873 HGNC:49275 VALIDATED 2304400 LINC01106 long intergenic non-protein coding RNA 1106 2 2 2 q13 104743689 104745411 - 111132686 111142113 - 110375109 110384536 - 12477932;14702039;15342556;16344560 151009 Q68DL6 ABBA01142032;AC112229;AC245043;AI699847;AK095678;BC101449;BC101450;BC101451;BC113052;BP341570;CH878615;CR749351;DB205082;NR_027244 BAC04604;CAH18204;EAW50645 Hs.643369 1660017;2122649 STS-R37430;WI-21119 DKFZp686K04236;FLJ38359 APPROVED ncrna HGNC:26769 08239 VALIDATED 7391051 LINC01128 long intergenic non-protein coding RNA 1128 INTERACTS WITH valproic acid 1 1 1 p36.33 1802745 1819887 - 762971 794826 + 827591 859446 + 6480464 12477932;14702039;15146197;16344560 643837 ABBA01016000;AI051839;AK026873;AK091100;AK096570;AK311732;AL669831;AMYH02000068;BC015393;BC042880;BC102012;BC102023;BC107481;BM459718;BX095144;CN361275;DA223705;DA721387;DA780029;DB282323;DR005509;DR005973;KF495845;NR_015368;NR_047519;NR_047520;NR_047521;NR_047522;NR_047523;NR_047524;NR_047525;NR_047526 Hs.133183 ncrna ENSG00000228794 HGNC:49377 VALIDATED 7493415 LINC01137 long intergenic non-protein coding RNA 1137 INTERACTS WITH all-trans-retinoic acid 1 1 1 p34.3 36198440 36217995 - 37920480 37940044 - 37454879 37474443 - 6480464 16344560;8889548 728431 ABBA01023278;ABBA01023279;AL162073;AL449284;AMYH02000796;AMYH02000797;BM923085;CK300727;DA727774;HG491913;KF495922;NR_038842 Hs.380738 RP11-422J8.1 ncrna ENSG00000233621 HGNC:49453 VALIDATED 7492083 LINC01136 long intergenic non-protein coding RNA 1136 1 1 1 q32.1 176397160 176403725 - 203267886 203274453 - 203298758 203305325 - 14702039;16344560 730227 ABBA01027483;AK024293;AK309664;AL513326;AMYH02002513;DA707241;HG493094;HG493095;NR_034150;NR_034151 Hs.293928 RP11-134P9.1 ncrna ENSG00000233791 HGNC:49452 VALIDATED 7494936 LINC01133 long intergenic non-protein coding RNA 1133 INTERACTS WITH silicon dioxide 1 1 q23.2 159931014 159948876 + 159961224 159979086 + 6480464 16712791;8889548 100505633 ABBA01016617;AF088076;AL513485;AMYH02002018;BM968712;BU688618;CA311778;CB119247;HG492833;NR_038849 Hs.445045 RP11-48O20.4 ncrna ENSG00000224259 HGNC:49447 VALIDATED 2303830 LINC01138 long intergenic non-protein coding RNA 1138 1 1 1 q21.1 121164814 121167484 - 147905097 147931980 - 148432959 148459858 - 6480464 12477932;14702039 388685 Q8N8A9 ABBA01053736;AC245100;AK097058;AK309393;AK310056;AK310186;AL022240;AL592207;AL691471;BC071624;BM724545;BX284650;DA386627;DB220560;HG492580;NR_027468;NR_104014 BAC04939 Hs.713362;Hs.740852;Hs.745431 FLJ17098;FLJ17228;FLJ99434;LINC00875 APPROVED ncrna ENSG00000274020 HGNC:49454 13438 VALIDATED 7489231 LINC01135 long intergenic non-protein coding RNA 1135 1 1 1 p32.1 57534656 57650231 + 59250823 59365384 + 58785151 58899712 + 14702039;16344560;19734545 100131060 ABBA01074655;ABBA01074656;AC105277;AK055150;AK296298;AL136985;AL606762;AMYH02001100;CH471059;DA202807;DA365881;HG492090;NR_034014;NR_034015;NR_108106 BAG58999;EAX06627 Hs.680604 RP4-794H19.2 ncrna ENSG00000234807 HGNC:49450 VALIDATED 7494427 LINC01134 long intergenic non-protein coding RNA 1134 1 1 1 p36.32 3070604 3085646 + 3816968 3832011 + 3900404 3915447 + 12477932 100133612 ABBA01073650;AK130173;AMYH02000139;BC016994;BC017122;BC062787;BX005110;CR847867;HG491639;NR_024455 Hs.307652 RP13-15E13.1 ncrna ENSG00000236423 HGNC:49449 VALIDATED 7489520 LINC01139 long intergenic non-protein coding RNA 1139 1 1 1 q43 211897566 211903201 - 238643684 238649317 - 238480384 238486017 - 12477932;16751668 339535 ABBA01033200;AI302836;AL359551;AMYH02002999;BC044843;BC064529;BC073894;BC113688;BC113690;CH471098;DQ384462;DQ384463;DQ384464;DQ384466;DQ384467;NR_015407 ABD48886;ABD48887;ABD48888;ABD48889;ABD48890;EAW70074 Hs.532047 ncrna ENSG00000215808 HGNC:27924 VALIDATED 7493087 LINC01132 long intergenic non-protein coding RNA 1132 1 1 1 q42.3 208130028 208137629 + 234859789 234867390 + 234724042 234731643 + 14702039;16344560;20686565;24097068 100506810 ABBA01033107;AK125357;AL160408;AMYH02002929;DA725133;DA854106;DB067123;HG493344;NR_038856 Hs.586634 RP4-781K5.8 ncrna ENSG00000227630 HGNC:49444 VALIDATED 7494480 LINC01144 long intergenic non-protein coding RNA 1144 1 1 1 p34.1 44052964 44054673 + 45769582 45771291 + 45303910 45305619 + 11181995;12477932 400752 ABBA01050886;AL359540;AMYH02000924;BC006119;BC035497;CH471059;NR_024270 EAX07005;EAX07006 Hs.334348 ncrna HGNC:49460 PREDICTED 7494466 LINC01146 long intergenic non-protein coding RNA 1146 ASSOCIATED WITH Lung Neoplasms (inferred) 14 14 q31.3 88490894 88553690 + 88024550 88087346 + 8554872 12477932 283587 ABBA01030534;AL157955;AMYH02029693;BC029479;HG506456;KF455977;NR_046094 Hs.525513 RP11-300J18.3 ncrna ENSG00000258867 HGNC:49467 VALIDATED 7758256 LINC01149 long intergenic non-protein coding RNA 1149 6 6 31409444 31414750 + 31441667 31445803 + 21801394;22864933 101929111 ABBA01038075;AL645933;AL662866;AMYH02013450;BX005439;CR847852;XR_242000;XR_246977;XR_247382;XR_247437;XR_249970;XR_251989 ncrna HGNC:39757 MODEL 7778875 LINC01158 long intergenic non-protein coding RNA 1158 2 2 2 q12 99623100 99669131 - 105421883 105468016 - 104805425 104851476 - 14702039;24381249 100506421 ABBA01073873;ABBA01073874;ABBA01073875;AC018730;AK096498;AMYH02004464;KF456693;NR_037883 Hs.437281 linc-Brn1a ncrna HGNC:49513 VALIDATED 7490396 LINC01142 long intergenic non-protein coding RNA 1142 1 1 1 q24.2 143350335 143363136 - 170240546 170253349 - 170271405 170284208 - 12477932;16344560 284688 ABBA01027944;AL445203;AMYH02002121;BC033381;BC125144;BG150294;BX116913;DB058759;HG492913;HG492914;NR_026957 Hs.135668 RP11-297H3.4 ncrna ENSG00000224286 HGNC:49456 VALIDATED 8160328 LINC01153 long intergenic non-protein coding RNA 1153 10 10 122938214 122945480 + 121178700 121185966 + 22589738;24105470 101927889 ABBA01062864;AC024599;AMYH02023934;XR_246197;XR_247578;XR_252828 ncrna ENSG00000227143 HGNC:49495 MODEL 7490474 LINC01141 long intergenic non-protein coding RNA 1141 INTERACTS WITH (+)-catechin 1 1 1 p36.12 19009385 19078472 - 20686294 20755287 - 20359801 20428794 - 12477932;16344560 339505 ABBA01059777;ABBA01059778;AL139254;AMYH02000429;BC040588;BC041010;BC131526;DB060026;HG491752;HG491753;HG491754;NR_033887 Hs.633269 RP4-749H3.1 ncrna HGNC:49455 VALIDATED 7778999 LINC01159 long intergenic non-protein coding RNA 1159 q12.1 14702039;24381249 102682016 AC018730;AK095498;DB492871;HG494410;NR_110373;NR_110374 Hs.638438 linc-Brn1b ncrna HGNC:49514 VALIDATED 2303861 LINC01140 long intergenic non-protein coding RNA 1140 INTERACTS WITH diazinon 1 1 1 p22.3 85841152 85880575 + 87595448 87634887 + 87129765 87169204 + 12477932;14702039;16344560;19247474;8889548 339524 ABBA01045607;ABBA01045608;AC093155;AL139139;AL833352;AMYH02001419;BC030523;BC041867;BC126240;BC132861;BI818944;BM679066;BM722117;CH471097;DA398164;DA981741;DB100426;DB462107;HG492231;HG492232;HG492233;HG492234;HG492235;HG492236;HG492238;HG492239;NR_026985;NR_026986;NR_026987;NR_026988;NR_026989 AAI26241;EAW73175 Hs.306423 1689207;1781620;2160638;5491304;5493847 AW546958;RH92748;SHGC-153532;SHGC-75102;UniSTS:495279 FLJ11317;MGC161518;RP5-1052I5.1 APPROVED ncrna ENSG00000267272 HGNC:27922 14169 VALIDATED 7768748 LINC01150 long intergenic non-protein coding RNA 1150 11 11 p15.5 1923872 1929254 + 1902642 1908024 + 7892249;8968746 101927624 ABBA01012166;ABBA01012167;AC051649;AMYH02024180;HG503443;L38282;NR_120534;U62668;XR_242841;XR_247613;XR_252849 Hs.523404 2G7;AC051649.16;TCONS_00019134 ncrna HGNC:49469 VALIDATED 7819148 LINC01163 long intergenic non-protein coding RNA 1163 10 10 q26.2 130084212 130115990 + 128285948 128317726 + 14702039 101927381 ABBA01009095;AK124226;AL390763;AMYH02024024;NR_120619;XR_242761;XR_247603;XR_252833 Hs.523342 TCONS_00017722 ncrna HGNC:49530 VALIDATED 7768366 LINC01152 long intergenic non-protein coding RNA 1152 17 q24.3 72030654 72041297 + 16344560;8789441 102606463 AA811230;AA969351;ABBA01028901;AC007461;AMYH02033933;BX114243;D43770;DA197482;HG509391;HG509392;NR_110124;NR_110132 Hs.512309 CMPD;RP11-84E24.3;TCONS_00025128 ncrna ENSG00000256124 HGNC:16752 VALIDATED 8698970 LINC01167 long intergenic non-protein coding RNA 1167 q26.3 103695432 AL691429;BI753673;NR_125763 Hs.680406 TCONS_00018075 ncrna HGNC:49536 VALIDATED 8698776 LINC01170 long intergenic non-protein coding RNA 1170 q23.2 16344560 103724389 AA215598;AC016556;AC021076;AC022449;AC106757;DB206454;HY324337;N72756;NR_125774 Hs.582211;Hs.633988;Hs.739776 ncrna HGNC:49542 VALIDATED 7821801 LINC01168 long intergenic non-protein coding RNA 1168 10 10 10 q26.3 128731345 128742308 - 134779038 134790001 + 132965534 132976497 + 399829 ABBA01006199;AK125849;AL691429;AMYH02024082;HG503387;NR_046231 Hs.252872 RP13-137A17.6 FLJ43861 protein ncrna ENSG00000240707 HGNC:49537 VALIDATED 7780080 LINC01160 long intergenic non-protein coding RNA 1160 1 1 1 p13.2 110388253 110397564 - 112141629 112150946 - 111599007 111608318 - 12477932 100129269 ABBA01068398;AL391063;AL553535;AL576506;AMYH02001727;BC063548;HG492428;HG492429;KF455009;NR_034126 Hs.689728 RP5-836N10.1 ncrna HGNC:49525 PREDICTED 7817095 LINC01176 long intergenic non-protein coding RNA 1176 7 7 30429847 30442638 + 30390885 30404055 + 8889548 100506516 ABBA01056813;AC006027;AMYH02015456;BM981427;NR_108081 ncrna HGNC:49548 VALIDATED 7826771 LINC01169 long intergenic non-protein coding RNA 1169 q22.31 14702039 102723165 AC013564;AK096135;BC016970;KF456073;KF456075;KF456076;NR_110372 Hs.636703 ncrna HGNC:49541 VALIDATED 7825709 LINC01180 long intergenic non-protein coding RNA 1180 17 17 42723732 42727717 - 44646364 44650349 - 12477932 101927017 ABBA01028358;AC091152;AMYH02033491;BC043289;HG509091;NR_110661;XR_243708;XR_248369;XR_253678 Hs.560554 RP11-1072C15.2 ncrna ENSG00000266979 HGNC:49558 VALIDATED 7827418 LINC01184 long intergenic non-protein coding RNA 1184 INTERACTS WITH mercury dichloride; valproic acid 5 5 5 q23.3 123489258 123550775 - 127357243 127418766 - 128021551 128083074 - 6480464 12477932;14702039;23535033;24036268 644873 ABBA01068872;AC005352;AC011332;AF088062;AK090949;AMYH02012166;BC036629;BX648677;HG498462;NR_015360 Hs.340623 ncrna ENSG00000245937 HGNC:49565 PREDICTED 7818146 LINC01182 long intergenic non-protein coding RNA 1182 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 p15.33 13656803 13932852 + 13655179 13931228 + 8554872 14702039;16344560;17903294;21990027 101929071 ABBA01032545;ABBA01032546;ABBA01032547;AC007126;AC095052;AC098830;AK091889;AMYH02008785;AMYH02008786;HG496740;KF457741;NR_121681;XR_241688;XR_249571;XR_251555 Hs.543714 RP11-341G5.1 ncrna ENSG00000250634 HGNC:49564 VALIDATED 7820748 LINC01187 long intergenic non-protein coding RNA 1187 5 5 q35.1 169618583 169624833 - 170191647 170199141 - 14702039 100507267 ABBA01044101;AC008660;AI791423;AK055811;AMYH02012714;HG498740;HG498741;NR_108022 Hs.634846 CTB-27N1.1;KIDR ncrna HGNC:49575 VALIDATED 7819987 LINC01179 long intergenic non-protein coding RNA 1179 4 4 q32.3 166605791 166683930 + 165684639 165762778 + 101928151 ABBA01070297;AC080079;AC097502;AMYH02010443;BX648971;HG497468;NR_121676;XR_244747;XR_249691;XR_251687 Hs.639858 RP11-340B18.1 ncrna ENSG00000249500 HGNC:49556 VALIDATED 7175347 LINC01192 long intergenic non-protein coding RNA 1192 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 3 q26.1 161295861 161421482 - 162895031 163021089 - 163177243 163303301 - 8554872 12477932;15905330;7566098 647107 AA382967;ABBA01058773;ABBA01058774;AC112644;AMYH02008045;AMYH02008046;AMYH02008047;BC027488;HG496259;KF457707;NR_033945 AAH27488 Hs.408584 2142081 D3S4160 CT64;RP11-10O22.2 APPROVED ncrna ENSG00000241369 HGNC:37197 VALIDATED 7849133 LINC01186 long intergenic non-protein coding RNA 1186 INTERACTS WITH silicon dioxide X X p11.3 46185714 46187097 - 46326223 46327662 - 6480464 101927574 ABBA01052192;AL034402;AL700385;AMYH02039256;BC015977;DW451179;NR_110388;XR_246723;XR_250641;XR_254143;XR_426524;XR_430511;XR_433753 AAH15977 Hs.350952 ncrna HGNC:49573 VALIDATED 5133364 LINC01164 long intergenic non-protein coding RNA 1164 10 10 10 q26.3 127231312 127249118 - 133604734 133622535 - 131772398 131790199 - 399827 Q6ZRK0 ABBA01006168;AK128177;AL450307;AMYH02024057;CH471066;LK938939;NR_038365 BAC87310;EAW49149 Hs.523353 1770900 SHGC-14552 APPROVED ncrna ENSG00000189275 HGNC:49533 13530 VALIDATED 7834871 LINC01189 long intergenic non-protein coding RNA 1189 9 9 46829290 46833319 + 62517989 62522018 + 12477932 643648 ABBA01033775;AMYH02020575;AMYH02020576;BC032596;BX005266;BX664725;HG502063;NR_046203 AAH32596 Hs.640178 RP11-211N8.7 ncrna HGNC:49592 VALIDATED 8177884 LINC01185 long intergenic non-protein coding RNA 1185 2 2 2 p16.1 60918486 60952044 - 61074895 61108449 - 60847760 60881314 - 20953189;20953190;22170493 400957 ABBA01075337;ABBA01075338;ABBA01075339;AC010733;AK122786;AMYH02003914;AMYH02003915;AMYH02003916;HG494022;NR_033980 Hs.170358 AC010733.4 ncrna ENSG00000228414 HGNC:49572 VALIDATED 7175372 LINC01193 long intergenic non-protein coding RNA 1193 15 15 q11.2 21145767 21198633 + 20940438 20993304 + 12477932;15905330 348120 ABBA01118703;ABBA01214039;AC037471;AMYH02029995;AMYH02029996;BC047459;HG506733;NR_040094 Hs.116287 1719739 RH123560 CT60;RP11-810K23.3 APPROVED ncrna ENSG00000258710 HGNC:28003 VALIDATED 7835992 LINC01191 long intergenic non-protein coding RNA 1191 2 2 2 q14.1 108057708 108085265 + 114737146 114764887 + 113979569 114007310 + 24440876 440900 ABBA01045976;AC010982;AC110769;AMYH02004604;AW016224;NR_034128 Hs.662205 VIN;lnc-ACTR3 ncrna ENSG00000234199 HGNC:49595 VALIDATED 7175387 LINC01194 long intergenic non-protein coding RNA 1194 5 5 5 12609582 12840023 + 12798873 12805295 + 12798761 12805183 + 14612521;14871852;18157007;18791715 404663 ABBA01020623;AC106771;AC106790;AC106794;AC119151;AMYH02010876;AY328030;AY328031;AY328032;AY328033;AY330599;NR_033383 Hs.552273 CT49;TAG APPROVED ncrna HGNC:37171 VALIDATED 8694476 LINC01198 long intergenic non-protein coding RNA 1198 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 q14.13 47029270 47035366 - 46455203 46464819 - 8554872 12477932 101929344 AI218618;AL138686;AW269438;BC046635;CN278417;HG505614;HG505615;HG505617;HG505618;HY006332;NR_120426;XR_245427;XR_429241 AAH46635 Hs.491939;Hs.539723;Hs.640399 ncrna HGNC:49598 VALIDATED 7944123 LINC01197 long intergenic non-protein coding RNA 1197 ASSOCIATED WITH Lung Neoplasms (inferred) 15 15 15 q26.2 72238339 72286145 - 95822517 95870329 - 95279288 95327100 - 8554872 12477932;20125193 400456 ABBA01032426;AC027547;AC104260;AMYH02031109;AMYH02031110;BC040875;HG507469;HG507470;NR_034095 Hs.536404 ncrna ENSG00000248441 HGNC:49597 PREDICTED 7828993 LINC01166 long intergenic non-protein coding RNA 1166 10 q26.3 134757470 134778789 - 14702039;16344560 101927590 AK095503;AK302096;AL691429;DA356569;DB168259;NR_120626;NR_120627;XR_242766;XR_252838 BAH13626 Hs.448598;Hs.723110 ncrna HGNC:49535 VALIDATED 8158012 LINC01207 long intergenic non-protein coding RNA 1207 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 q32 165675283 165724947 + 164754131 164803795 + 8554872 12477932;14702039 100505989 ABBA01070282;ABBA01070283;ABBA01070284;AC104620;AK095255;AMYH02010426;AMYH02010427;AMYH02010428;BC062791;HG497464;HG497465;NR_038834 Hs.328236 RP11-294O2.2 ncrna ENSG00000248771 HGNC:49638 VALIDATED 8157710 LINC01203 long intergenic non-protein coding RNA 1203 X X X p22.2 17471039 17477609 + 13353360 13359944 + 13335241 13341825 + 100133123 AA412296;AA470018;ABBA01071088;ABBA01071089;ABBA01071090;AC004674;AMYH02038892;CH471074;HG512442;NR_045260 EAW98820 Hs.449499 RP11-142G7.2 ncrna ENSG00000226985 HGNC:49634 VALIDATED 8157761 LINC01204 long intergenic non-protein coding RNA 1204 X X 45364633 45386484 + 45505388 45527239 + 14702039 101927528 ABBA01052097;ABBA01052098;AK127697;AL139810;AL157701;AMYH02039249;BC040858;HG512511;HG512512;NR_104644;NR_104645 Hs.550772 RP11-245M24.1 ncrna ENSG00000229563 HGNC:49635 VALIDATED 8157668 LINC01205 long intergenic non-protein coding RNA 1205 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 3 q13.13 107527845 107612993 + 109128837 109214014 + 109409990 109495167 + 8554872 12477932;21348951 401082 ABBA01061687;ABBA01061688;ABBA01061689;AC092905;AK058092;AMYH02007413;AMYH02007414;AMYH02007415;BC044821;HG495916;NR_109841;NR_109842 Hs.477089 RP11-702L6.4 ncrna ENSG00000228980 HGNC:49636 VALIDATED 8157733 LINC01206 long intergenic non-protein coding RNA 1206 3 3 q26.33 181670152 181728466 + 181952364 182010678 + 12477932 100996490 ABBA01058495;ABBA01058496;AC012081;AC026359;AMYH02008257;AMYH02008258;BC036236;BX641067;CR749396;HG496412;HG496413;HG496414;HG496415;HG496416;HG496417;NR_104146 Hs.606987;Hs.636150 RP11-416O18.1 ncrna ENSG00000242512 HGNC:49637 VALIDATED 8158023 LINC01209 long intergenic non-protein coding RNA 1209 3 3 176531943 176534789 - 176814155 176817001 - 101928684 ABBA01058597;AC092920;AMYH02008189;BC041880;NR_110819;XR_241618;XR_249498;XR_251499 Hs.639352 ncrna ENSG00000228308 HGNC:49640 VALIDATED 8157639 LINC01208 long intergenic non-protein coding RNA 1208 3 3 3 174726310 174757722 - 176321936 176353320 - 176604148 176635532 - 100505547 ABBA01058601;AC092938;AMYH02008187;BX094192;CA436377;HG496325;NR_109968 Hs.253350 RP11-71G7.1 ncrna ENSG00000223715 HGNC:49639 VALIDATED 8157652 LINC01212 long intergenic non-protein coding RNA 1212 3 3 70048895 70064452 + 69999744 70015301 + 12477932 101927152 ABBA01030915;AC104449;AMYH02007027;BC015590;HG495776;HG495777;NR_110000 Hs.382046 RP11-460N16.1 ncrna ENSG00000240405 HGNC:49644 VALIDATED 8157813 LINC01210 long intergenic non-protein coding RNA 1210 3 3 3 135918045 135921100 + 137490180 137499720 + 137771911 137780878 + 12477932 100507274 ABBA01059099;AC007159;AMYH02007763;BC038725;BI460052;HG496082;HG496083;HG496084;HG496085;NR_109987 Hs.360349 RP11-2A4.3 ncrna ENSG00000239513 HGNC:49642 VALIDATED 8157928 LINC01215 long intergenic non-protein coding RNA 1215 3 3 107844668 107855254 + 108125064 108138610 + 101929623 AA813865;ABBA01061707;AC012020;AMYH02007394;AW292872;CT001622;HG495908;NR_110028;NR_110030 Hs.570653 RP11-861A13.4 ncrna ENSG00000271856 HGNC:49651 VALIDATED 6481106 LINC01217 long intergenic non-protein coding RNA 1217 100874276 AC034150 EMCN-IT2 APPROVED ncrna HGNC:41419 8157691 LINC01214 long intergenic non-protein coding RNA 1214 3 3 149983194 150014389 - 150265407 150323747 - 22479202 101928022 ABBA01058927;AC018545;AC135000;AMYH02007888;BF508966;HG496183;HY037516;NR_110186;NR_110187 Hs.555199;Hs.665220 RP11-483E7.1 ncrna HGNC:49650 VALIDATED 6481109 LINC01216 long intergenic non-protein coding RNA 1216 4 4 101581436 101596270 - 100660279 100675113 - 100874275 AA446329;AA446509;ABBA01063684;AC034150;AC116174;AMYH02009806;HG497111;NR_046811 Hs.136318 1700790 RH104020 EMCN-IT3;RP11-115I3.1 APPROVED ncrna ENSG00000250223 HGNC:41418 PREDICTED 6481107 LINC01218 long intergenic non-protein coding RNA 1218 100874277 AC034150 EMCN-IT1 APPROVED ncrna HGNC:41420 8179512 LINC01220 long intergenic non-protein coding RNA 1220 14 14 14 q24.3 55799187 55801420 + 75761107 75763113 + 75294404 75296410 + 12477932;16344560 731223 ABBA01030703;AF111167;AMYH02029536;BC038216;DA847937;HG506382;HG506383;NR_038421 Hs.534624 RP11-293M10.5 ncrna HGNC:49664 VALIDATED 8157852 LINC01213 long intergenic non-protein coding RNA 1213 3 3 149956306 149957990 + 150238519 150240206 + 101927992 ABBA01058929;AC117386;AMYH02007888;AW195433;BF676681;HG496181;HG496182;NR_110167;NR_110168 Hs.534682 RP11-167H9.6 ncrna ENSG00000244541 HGNC:49648 VALIDATED 8548293 LINC01231 long intergenic non-protein coding RNA 1231 9 9 p24.2 3181589 3200500 + 3181589 3200500 + 101929247 ABBA01065434;AL133549;AMYH02019061;BC041456;HG501858;NR_121585;XR_242522;XR_250460;XR_252502 Hs.547178 RP11-32F11.2 ncrna HGNC:49688 VALIDATED 8159246 LINC01222 long intergenic non-protein coding RNA 1222 q32.1 102800316 AC096631;BC040869;HY287539;NR_110525 Hs.568480 TCONS_00000112 ncrna HGNC:49672 VALIDATED 8548395 LINC01232 long intergenic non-protein coding RNA 1232 q32.3 12477932;16344560;24522499 102725509 ABBA01027119;AK123584;AL139035;BC043507;DA079673;DB054769;NR_110731;XM_006709968 XP_006710031 Hs.648968 ncrna HGNC:49755 VALIDATED 8161018 LINC01226 long intergenic non-protein coding RNA 1226 1 1 1 p35.2 30252768 30258575 + 31984036 31989846 + 31518435 31524245 + 12477932;14702039 284551 ABBA01023460;AC114494;AK093618;AMYH02000682;BC139778;HG491856;NR_027085 Hs.658659 RP11-439L8.4 ncrna ENSG00000223907 HGNC:49678 PREDICTED 8547594 LINC01230 long intergenic non-protein coding RNA 1230 p24.3 14702039;24504737 102800446 AI950300;AK055761;AL358976;NR_110643 Hs.171043;Hs.548995 TCONS_00015639;linc-DMRT2;lnc-DRMT2 ncrna HGNC:49686 VALIDATED 8548123 LINC01233 long intergenic non-protein coding RNA 1233 19 19 19 p12 22547461 22548329 + 22715428 22719843 + 22532626 22537041 + 24522499 100128139 ABBA01051411;AC011467;AI221170;AI911139;AMYH02035824;BX092359;HG510510;HY002653;NR_110663;NR_110664;XR_109584;XR_111841;XR_172271 Hs.550683 XLOC_013014 ncrna HGNC:49756 VALIDATED 8548066 LINC01235 long intergenic non-protein coding RNA 1235 9 9 9 p23 13339401 13364350 - 13406379 13431328 - 13406380 13431329 - 14702039;20379614 401492 ABBA01065311;AI949399;AK123194;AL583785;AMYH02019184;HG501897;NR_033863 Hs.632651 RP11-536O18.2 ncrna ENSG00000270547 HGNC:49769 VALIDATED 8168435 LINC01227 long intergenic non-protein coding RNA 1227 16 16 80600691 80603584 - 80567103 80572808 - 101928276 ABBA01016992;ABBA01016993;ABBA01016994;ABBA01016995;AC092332;AC108097;AK098656;AMYH02032492;BX100000;HG508340;HG508341;HG508342;HG508344;NR_104665;NR_104666 Hs.149769 RP11-18F14.1 ncrna ENSG00000260737 HGNC:49680 VALIDATED 8548749 LINC01242 long intergenic non-protein coding RNA 1242 9 9 p21.1 30388933 30408452 - 30388935 30408454 - 12477932 401497 ABBA01065102;AL353808;AL354704;AL390844;AMYH02019389;BC022036;NR_046204 Hs.680131 ncrna HGNC:49810 VALIDATED 8548696 LINC01243 long intergenic non-protein coding RNA 1243 9 9 p21.1 31371609 31381488 - 31371611 31381490 - 101929620 ABBA01065093;AL353783;AMYH02019394;AMYH02019395;BC040892;XR_242539;XR_250441;XR_252520 Hs.547175 ncrna ENSG00000260720 HGNC:49814 MODEL 8548103 LINC01237 long intergenic non-protein coding RNA 1237 2 2 q37.3 242823517 242908523 + 241881363 242078722 + 16344560 101927289 ABBA01018785;ABBA01018786;ABBA01018787;ABBA01018788;ABBA01018789;ABBA01018790;ABBA01018791;ABBA01018792;ABBA01018793;ABBA01018794;ABBA01018795;AC093642;AC131097;AC237191;AC244167;AMYH02006124;AMYH02006125;AMYH02006126;BG772076;DA781142;DA937565;NR_110220 Hs.130180 AC131097.3 ncrna ENSG00000233806 HGNC:49793 VALIDATED 8548211 LINC01234 long intergenic non-protein coding RNA 1234 12 12 114182380 114211489 - 113744577 113773683 - 14702039;16344560;24522499 100506465 ABBA01019964;ABBA01019965;ABBA01019966;AC009731;AK096932;AMYH02027244;AMYH02027245;DB172006;HG505192;HG505193;NR_110025;NR_110026 Hs.211461 RP11-438N16.1 ncrna ENSG00000249550 HGNC:49757 VALIDATED 8548708 LINC01241 long intergenic non-protein coding RNA 1241 9 9 p21.2 25780060 25812966 + 25780056 25812968 + 101929582 ABBA01065141;AL391475;AMYH02019326;BC043546;HG501948;NR_121604;XR_242537;XR_250443;XR_252518 Hs.140547 ncrna HGNC:49804 VALIDATED 8180830 LINC01225 long intergenic non-protein coding RNA 1225 1 1 1 p35.2 30233885 30242897 + 31971836 31974167 + 31500085 31508566 + 12477932;14702039;16344560 149086 ABBA01023460;AC114494;AC209007;AK057562;AMYH02000681;AMYH02000682;BC036357;BC104454;BC104455;DB342154;NR_034112 Hs.729905 RP11-439L8.3 pseudo ENSG00000260386 HGNC:49677 VALIDATED 8549064 LINC01248 long intergenic non-protein coding RNA 1248 2 p25.2 5634141 5649908 - 102723818 ABBA01023885;AC108025;AMYH02003220;BX111928;DB455249;NR_110580;XR_425357;XR_426967;XR_431388 Hs.128107 ncrna HGNC:49842 VALIDATED 8549077 LINC01249 long intergenic non-protein coding RNA 1249 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 2 p25.2 4684113 4712118 - 4675808 4703812 - 4628218 4656222 - 8554872 12477932 727982 ABBA01006089;AC022311;AK307324;AMYH02003210;BC047589;HG493526;HG493528;NR_034134 Hs.444391 ncrna ENSG00000231532 HGNC:49843 VALIDATED 8549329 LINC01250 long intergenic non-protein coding RNA 1250 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 p25.3 2898820 3129798 - 2895048 3126026 - 8554872 14702039;23218918 101927554 ABBA01013719;ABBA01017981;AC011995;AC019118;AC074264;AC145619;AC247146;AK095310;AMYH02003187;HG493496;NR_110228 Hs.638446 ncrna ENSG00000234423 HGNC:49844 VALIDATED 8549143 LINC01251 long intergenic non-protein coding RNA 1251 9 9 33732973 33738414 - 33732975 33738416 - 101929688 ABBA01065042;AL356489;AMYH02019427;BX115224;NR_109755 Hs.372465 ncrna ENSG00000233776 HGNC:49845 VALIDATED 8661824 LINC01246 long intergenic non-protein coding RNA 1246 16344560 102800315 AC097517;BX096693;DB339321;HG493552;HG493553;NR_110498;NR_110500 Hs.729713;Hs.739593 ncrna HGNC:49840 VALIDATED 8548239 LINC01239 long intergenic non-protein coding RNA 1239 9 9 p21.3 22646199 22824212 + 22646200 22824213 + 14702039;19197348;19875103;23453885;8889549 441389 ABBA01065163;ABBA01065164;AC017067;AK092601;AL645734;AMYH02019297;AMYH02019298;KF454916;KF458905;NR_038977 ncrna ENSG00000234840 HGNC:49796 VALIDATED 8549151 LINC01247 long intergenic non-protein coding RNA 1247 2 2 p25.2 6506142 6515554 - 6366010 6375422 - 12477932 101929390 ABBA01023890;AC105253;AMYH02003224;BC044918;HG493537;NR_110251 Hs.434407 ncrna ENSG00000227007 HGNC:49841 VALIDATED 8549357 LINC01252 long intergenic non-protein coding RNA 1252 12 12 12 p13.2 16843227 16859600 + 11700964 11717337 + 11548030 11564403 + 12477932 338817 ABBA01067822;AC007450;AMYH02026033;AMYH02026034;BC041827;HG504524;NR_033890 Hs.733066 ncrna ENSG00000247157 HGNC:27888 VALIDATED 8549051 LINC01254 long intergenic non-protein coding RNA 1254 18 18 p11.22 10405130 10414367 - 10405133 10414370 - 101927350 ABBA01049968;AMYH02034296;AP006219;AY726567;HG509746;NR_110775;XR_243831;XR_248448;XR_253766 Hs.572523 ncrna ENSG00000260913 HGNC:49870 VALIDATED 8549099 LINC01255 long intergenic non-protein coding RNA 1255 18 18 p11.21 11490054 11506977 + 11490055 11506978 + 16344560;23212062 101927433 AA844721;ABBA01073991;AMYH02034310;AP001017;DB338965;HG509760;HG509763;NR_110778;NR_110779;XR_243833;XR_243834;XR_248450;XR_248451;XR_253768;XR_253769 Hs.331210;Hs.691766 ncrna ENSG00000267252 HGNC:49871 VALIDATED 8694876 LINC01257 long intergenic non-protein coding RNA 1257 12 12 12 q24.33 131262942 131310052 + 131649556 131697476 + 131165011 131212931 + 12477932;21988832 116437 ABBA01032818;AC126564;AL137487;AMYH02027563;BC112214;HG505398;KF455741;NR_026670 CAH10699 Hs.675497 ncrna ENSG00000204603 HGNC:26972 VALIDATED 9586216 LINC01260 long intergenic non-protein coding RNA 1260 20 20 20 q13.12 39993733 40009022 - 43285092 43300380 - 44656451 44671739 - 12477932;14702039 79015 ABBA01052646;ABBA01052647;AK090842;AL139352;AMYH02037137;AMYH02037138;BC000849;CH471077;HG511383;HG511384;NR_034104 EAW75901 Hs.671450;Hs.731918 ncrna ENSG00000132832 HGNC:49900 VALIDATED 8552163 LINC01267 long intergenic non-protein coding RNA 1267 3 3 14389951 14394109 - 14348451 14352568 - 101927565 ABBA01025161;AC093496;AK027155;AMYH02006319;HG495501;NR_110135 Hs.306905 ncrna ENSG00000251576 HGNC:50320 VALIDATED 8655839 LINC01268 long intergenic non-protein coding RNA 1268 6 6 q21 114189178 114194512 - 113868013 113873347 - 12477932;24821221 285758 ABBA01026063;AL132660;AMYH02014332;BC037331;FO393415;HG499563;NR_038863 Hs.359399 ncrna ENSG00000227502 HGNC:50323 VALIDATED 8699373 LINC01269 long intergenic non-protein coding RNA 1269 q24.2 16344560 103695436 AC004816;DA437066;NR_125769 Hs.572296 ncrna HGNC:50325 VALIDATED 4108149 LINC01270 long intergenic non-protein coding RNA 1270 20 20 20 q13.13 45613502 45635725 + 48909257 48931456 + 50292720 50314919 + 12477932;14702039 284751 Q4G0G3 ABBA01052777;AK090605;AL354889;AMYH02037233;BC093937;BC093939;HG511430;NR_034124 AAH93937;AAH93939 Hs.282325 1784386 SHGC-153787 APPROVED ncrna ENSG00000203999 HGNC:27658 18771 PREDICTED 8552066 LINC01265 long intergenic non-protein coding RNA 1265 5 5 p13.1 38710469 38711527 - 38710367 38720273 - 101926904 AA393775;ABBA01024202;AC091435;AMYH02011195;HG497900;NR_104631 Hs.634191 ncrna ENSG00000249911 HGNC:50297 VALIDATED 8552024 LINC01266 long intergenic non-protein coding RNA 1266 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 633788 887760 + 592105 846015 + 8554872 20339536 101927215 ABBA01020505;ABBA01020506;ABBA01020507;ABBA01020508;AC087431;AC090044;AK126307;AMYH02006136;AMYH02006137;HG495388;KF510246;KF510851;NR_110118 Hs.650700 ncrna ENSG00000224957 HGNC:50309 VALIDATED 8549695 LINC01262 long intergenic non-protein coding RNA 1262 4 4 q35.2 190580760 190582637 + 189659605 189661483 + 24651478 101928971 ABBA01070609;AC018687;AC243969;BC092460;HG497644;NR_121679;XR_244775;XR_249720;XR_251719;XR_430931 Hs.519164 TCONS_l2_00021807 ncrna ENSG00000250739 HGNC:50275 VALIDATED 8552501 LINC01271 long intergenic non-protein coding RNA 1271 20 20 48927248 48937879 - 50310711 50321342 - 12477932 101927586 ABBA01052777;AL354889;AMYH02037233;BC039367;HG511432;NR_109950 Hs.637665 ncrna ENSG00000233077 HGNC:50327 VALIDATED 8552421 LINC01272 long intergenic non-protein coding RNA 1272 20 20 48884023 48896332 + 50267486 50279795 + 100506115 ABBA01052776;AK307192;AL354889;AMYH02037233;BI861769;BQ430993;CA307108;HG511426;HG511427;NM_001278655;XM_006723680 NP_001265584;XP_006723743 Hs.235484 uncharacterized protein LOC100506115 protein-coding HGNC:50328 VALIDATED 8552452 LINC01277 long intergenic non-protein coding RNA 1277 6 6 6 144027965 144099130 - 143287558 143358719 - 142966421 143037582 - 14702039 100507489 AA405687;ABBA01025751;ABBA01025752;ABBA01025753;ABBA01025754;AK057490;AL023581;AL355304;AMYH02014631;HG499739;NR_038987 Hs.486645 ncrna HGNC:50334 VALIDATED 8552447 LINC01279 long intergenic non-protein coding RNA 1279 3 3 3 q13.2 110724300 110727774 - 112315644 112319118 - 112596794 112601969 - 14702039 100506621 ABBA01061660;AC048334;AK126393;AMYH02007442;NR_109779 Hs.86538 ncrna ENSG00000272761 HGNC:50335 VALIDATED 8552485 LINC01278 long intergenic non-protein coding RNA 1278 ASSOCIATED WITH Lung Neoplasms (inferred) X X X q11.1 62993287 63127714 - 62646438 62780962 - 63426559 63560993 - 8554872 14702039;24024966 92249 ABBA01066787;ABBA01066788;ABBA01066789;ABBA01066790;ABBA01066791;ABBA01066792;ABBA01066793;ABBA01066794;ABBA01066795;ABBA01066796;ABBA01066797;ABBA01066798;AK001756;AK023798;AK129670;AK130294;AL080202;AL158203;AL391277;AMYH02039592;AMYH02039593;AMYH02039594;BC024701;BC048208;NR_015353 BAG50971 Hs.31532;Hs.708316 ncrna ENSG00000235437 HGNC:28090 PREDICTED 8552446 LINC01276 long intergenic non-protein coding RNA 1276 p21.1 15790807;15998911 103106903 AL139331;AY927638;DQ141194;NR_120347 Hs.563396 ncrna HGNC:50333 VALIDATED 8656723 LINC01258 long intergenic non-protein coding RNA 1258 4 4 38422283 38524801 - 38420662 38523180 - 14702039;23251661 101928776 ABBA01074325;ABBA01074326;AC024023;AC096739;AC106893;AK057434;AMYH02009033;AMYH02009034;AMYH02009035;AMYH02009036;HG496837;NR_110951;XR_244606;XR_249582;XR_251568 Hs.586147 ncrna ENSG00000249534 HGNC:49898 VALIDATED 8552393 LINC01284 long intergenic non-protein coding RNA 1284 ASSOCIATED WITH Lung Neoplasms (inferred) X X p11.22 50844121 50844465 - 51095836 51158694 - 8554872 101926971 ABBA01060033;AC239367;AMYH02039368;AMYH02039369;BG212281;BX112678;HG512535;NR_110382;XR_244469;XR_250643;XR_254146;XR_426528 Hs.657995 ncrna ENSG00000230317 HGNC:50342 VALIDATED 8698777 LINC01287 long intergenic non-protein coding RNA 1287 ASSOCIATED WITH Lung Neoplasms (inferred) q36.2 8554872 103724390 AC073236;BF514057;NR_125776 Hs.614280 TCONS_l2_00027522 ncrna HGNC:50351 VALIDATED 8698789 LINC01288 long intergenic non-protein coding RNA 1288 ASSOCIATED WITH Lung Neoplasms (inferred) p12 8554872 16344560 103689844 AC087170;DB066514;NR_125746 Hs.590682 TCONS_00014671 ncrna HGNC:50353 VALIDATED 8552573 LINC01273 long intergenic non-protein coding RNA 1273 20 20 48789127 48793208 + 50172570 50176671 + 16341674 101927541 ABBA01052774;AL161937;AMYH02037231;BM750089;BQ646539;BX091132;HG511425;NR_109943 Hs.570391 ncrna ENSG00000231742 HGNC:50329 VALIDATED 8552463 LINC01282 long intergenic non-protein coding RNA 1282 X X p11.4 39226539 39251028 - 39367285 39391774 - 101927449 ABBA01046944;AC091808;AMYH02039176;BC043536;HG512493;NR_110385;XR_246718;XR_250639;XR_254138 Hs.553988 ncrna ENSG00000236747 HGNC:50338 VALIDATED 8552869 LINC01289 long intergenic non-protein coding RNA 1289 8 8 q12.3 64681988 64698058 + 63769430 63785501 + 12477932;9847074 286184 ABBA01041844;AC069133;AMYH02018079;BC037345;HG501279;KF458764;KF511076;NR_038875 Hs.586402 ncrna ENSG00000253734 HGNC:50354 VALIDATED 9068697 LINC01291 long intergenic non-protein coding RNA 1291 2 p12 74923921 74933024 + 10737800 102724515 ABBA01075616;AC104135;AK125960;AMYH02004094;CV382059;NR_125792;XR_425415;XR_427048;XR_431442 Hs.708649 ncrna HGNC:50358 VALIDATED 9068783 LINC01293 long intergenic non-protein coding RNA 1293 2 2 p12 75167339 75169797 + 74940212 74942670 + 12477932 101927861 ABBA01075616;AC104135;AMYH02004094;BC038580;XR_245025;XR_249151;XR_251095 Hs.385784 ncrna ENSG00000230836 HGNC:50362 MODEL 8663159 LINC01296 long intergenic non-protein coding RNA 1296 14 14 q11.2 19887179 19894784 - 19076244 19096796 + 12477932;14702039 642477 AK096951;AL589182;BC041856;BX248778;NR_122111;NR_122112;XR_429336 CAD66585 Hs.474095;Hs.744284 ncrna HGNC:48904 VALIDATED 8552559 LINC01281 long intergenic non-protein coding RNA 1281 X X p11.4 39164210 39186616 - 39304956 39327362 - 14702039 286442 ABBA01046947;ABBA01046948;AC108879;AK093678;AMYH02039176;HG512491;HG512492;NR_038968 Hs.638478 ncrna ENSG00000235304 HGNC:50337 VALIDATED 8552543 LINC01280 long intergenic non-protein coding RNA 1280 2 2 q35 217455149 217471661 - 216590426 216606938 - 101928232 ABBA01062819;ABBA01062820;AC073321;AK307257;AMYH02005762;HG495218;NR_110392;XR_241408;XR_249300;XR_251277 Hs.694592 ncrna ENSG00000224391 HGNC:50336 VALIDATED 8655330 LINC01299 long intergenic non-protein coding RNA 1299 ASSOCIATED WITH Lung Neoplasms (inferred) 8 8 8 q13.1 62430656 62466322 - 66439243 66474901 - 65527008 65562666 - 8554872 14702039;16344560;23251661 286186 ABBA01041859;AC100814;AK094960;AMYH02018092;DA397003;HG501290;NR_033893 Hs.449427 ncrna ENSG00000254081 HGNC:27839 VALIDATED 8655347 LINC01300 long intergenic non-protein coding RNA 1300 8 8 8 q24.3 138518466 138522538 + 142350648 142354720 + 141340549 141344621 + 12477932;21926972 731779 ABBA01013685;AC100803;AMYH02018904;BC013065;BC029463;HG501761;HG501762;NR_024441 Hs.586414 ncrna ENSG00000253595 HGNC:50460 VALIDATED 8655501 LINC01301 long intergenic non-protein coding RNA 1301 8 8 8 57304814 57315420 - 61314730 61326377 - 60402171 60413818 - 14702039;16344560 100505532 ABBA01041810;ABBA01041811;AC022555;AK124262;AMYH02018052;DA188900;HG501226;NR_103854 Hs.720321 ncrna HGNC:50464 VALIDATED 8655513 LINC01305 long intergenic non-protein coding RNA 1305 2 2 q31.1 175190755 175195371 + 174326027 174330643 + 14702039 285084 ABBA01062187;AC018470;AL833646;AMYH02005269;AMYH02005270;BC043589;HG494891;NR_038897 Hs.275398 ncrna ENSG00000231453 HGNC:27690 VALIDATED 8552526 LINC01285 long intergenic non-protein coding RNA 1285 X X q24 117973522 117991849 + 118839559 118857886 + 14702039;16344560 101928287 AC006965;AK057519;AMYH02040322;DB165975;HG512664;HG512665;NR_110393;XR_244529;XR_254171 Hs.496647 ncrna ENSG00000203650 HGNC:50344 VALIDATED 8655361 LINC01304 long intergenic non-protein coding RNA 1304 2 2 2 p25 4013859 4030217 - 4005245 4021644 - 3957655 3974032 - 12477932 100505964 ABBA01006094;ABBA01006095;ABBA01006096;ABBA01006097;AC107070;AMYH02003204;AMYH02003205;BC043283;BC062482;HG493514;HG493515;HG493520;HG493521;NR_037881 Hs.190267 ncrna ENSG00000237401 HGNC:50472 VALIDATED 8655833 LINC01311 long intergenic non-protein coding RNA 1311 22 22 19159219 19160345 + 19171706 19172832 + 15790807;21697133 100652736 AB593110;ABBA01005421;AC004463;AMYH02038036;AY927637;BU620535;BU621681;CV570998;NR_103767 BAJ84050 Hs.572896 ncrna HGNC:50503 VALIDATED 8655748 LINC01312 long intergenic non-protein coding RNA 1312 INTERACTS WITH (+)-catechin 6 6 6 q23.2 134883481 134916201 + 134142285 134175130 + 133821147 133853992 + 12477932;22306654 154089 ABBA01025868;AL137011;AMYH02014518;BC032958;HG499651;KF458291;NR_027030 Hs.126165 ncrna HGNC:28525 PREDICTED 8655706 LINC01310 long intergenic non-protein coding RNA 1310 22 22 22 q13.32 33205536 33205970 + 49262582 49294198 + 48866770 48898386 + 12477932;14702039 100128946 ABBA01031357;ABBA01031358;AK056844;AK124622;AMYH02038568;AMYH02038569;BC037788;BX324178;HG512379;KF459722;NR_038944 Hs.535676 WI2-81516E3.1 ncrna HGNC:50501 VALIDATED 8656060 LINC01315 long intergenic non-protein coding RNA 1315 22 q13.2 42364406 42369246 - 102723775 ABBA01055673;AI914073;AMYH02038459;AV709904;BC038245;CB050274;NR_120595;NR_120596;NR_120597;XR_425333;XR_425334;XR_430456;XR_430457;XR_433718;XR_433719;Z83851 Hs.335413 lnc-C22orf32-1 ncrna ENSG00000229891 HGNC:50513 VALIDATED 8655729 LINC01314 long intergenic non-protein coding RNA 1314 ASSOCIATED WITH Lung Neoplasms (inferred) 15 15 q25.1 80491138 80496155 - 80198796 80252261 - 8554872 14702039 100996492 ABBA01060624;AC087761;AK124939;AL109671;AL109716;AMYH02030882;AMYH02030883;BF978831;HG507302;NR_120317;XR_243192;XR_248146;XR_253417;XR_424651;XR_429574;XR_433141 Hs.20034;Hs.591126;Hs.593529 ncrna HGNC:50507 VALIDATED 8698720 LINC01322 long intergenic non-protein coding RNA 1322 ASSOCIATED WITH Lung Neoplasms (inferred) q26.1 8554872 16344560 103695433 AL528382;DA156477;DA224933;DA336330;DA390534;NR_125764 Hs.570689;Hs.615134 ncrna HGNC:50528 VALIDATED 8656202 LINC01333 long intergenic non-protein coding RNA 1333 5 5 q13.3 73618316 73624182 + 74322486 74328357 + 101929082 ABBA01061927;AC106732;AMYH02011570;BC043537;HG498082;NR_105010 Hs.434316 ncrna ENSG00000249343 HGNC:50539 VALIDATED 8656113 LINC01338 long intergenic non-protein coding RNA 1338 5 q14.2 82850864 82859836 - 102546175 ABBA01062077;AC108174;AMYH02011704;BX488485;NR_105016 ncrna HGNC:50547 VALIDATED 8698778 LINC01337 long intergenic non-protein coding RNA 1337 q14.1 103689917 AC008434;DB525610;NR_125754 Hs.740035 TCONS_00009713 ncrna HGNC:50546 VALIDATED 2300140 LINC01298 long intergenic non-protein coding RNA 1298 8 8 q22.1 96219235 96228602 - 95207007 95216374 - 619344 AA469917;ABBA01037479;ABBA01037480;AMYH02018445;AMYH02018446;AP003466;AW103292;HG501495;NR_046232 Hs.741630 C8orf69 chromosome 8 open reading frame 69 APPROVED ncrna ENSG00000253351 HGNC:32292 VALIDATED 2298829 LINC01341 long intergenic non-protein coding RNA 1341 INTERACTS WITH thapsigargin 1 1 1 q44 220244830 220246699 + 246952919 246954788 + 246789617 246791486 + 12477932;14702039 149134 Q6ZUZ4 ABBA01031768;AK022825;AK125177;AL591848;AMYH02003120;BC101243;BC101244;BC101245;BC101246;CH471148;NR_015422 BAC86072;EAW77164 Hs.720494 2184075;5493557 SHGC-76640;UniSTS:487204 MGC120210;MGC120211;MGC120212;MGC120213 APPROVED ncrna HGNC:49457 14084 VALIDATED 8656076 LINC01342 long intergenic non-protein coding RNA 1342 1 1 p36.33 1072397 1079436 + 1137017 1144056 + 12477932;23382691 254099 ABBA01016019;ABBA01016020;ABBA01016021;AL390719;AMYH02000081;AMYH02000082;BC028014;BC131698;HG491580;NR_038869 Hs.680488 ncrna ENSG00000223823 HGNC:50551 VALIDATED 8656270 LINC01343 long intergenic non-protein coding RNA 1343 1 1 p34.3 38674706 38680439 - 38209034 38214767 - 12477932;24390342 339442 ABBA01023247;AL390839;AMYH02000812;BC042675;BI827914;HG491918;NR_038928 Hs.434245 ncrna ENSG00000237290 HGNC:50553 VALIDATED 8656439 LINC01346 long intergenic non-protein coding RNA 1346 1 1 1 p36.32 3109979 3114872 + 4000672 4012643 + 3940612 3952583 + 11181995;16344560 728716 ABBA01014074;AK124708;AL928679;AMYH02000140;CH471130;DB288420;HG491641;NR_040065 EAW71497;EAW71498;EAW71499;EAW71500 Hs.668359 ncrna HGNC:50563 VALIDATED 8656973 LINC01335 long intergenic non-protein coding RNA 1335 5 q13.3 74306410 74308325 - 102503429 ABBA01061926;AC106732;AI018361;AMYH02011570;HG498080;NR_105009 Hs.519391 ncrna ENSG00000248942 HGNC:50542 VALIDATED 8656937 LINC01339 long intergenic non-protein coding RNA 1339 5 5 q14.3 89454156 89585798 - 90169301 90261719 - 19734900 101929495 ABBA01062150;ABBA01062151;AC093530;AC099554;AI150213;AI682214;AMYH02011771;AMYH02011772;AW514364;BX105792;NR_120601;XR_425870;XR_427739;XR_431888 Hs.346679 ncrna HGNC:50549 VALIDATED 8656128 LINC01347 long intergenic non-protein coding RNA 1347 1 1 1 q43 216582910 216583981 + 243219616 243265046 - 243056314 243101744 - 731275 ABBA01001592;ABBA01009167;AL137733;AL606534;AMYH02003061;HG493386;HG493387;HG493388;HG493390;NR_029401 Hs.722350 ncrna HGNC:50566 VALIDATED 8656284 LINC01330 long intergenic non-protein coding RNA 1330 3 3 3 q26.1 166012182 166041217 + 167613736 167641799 + 167895948 167924011 + 14702039 646168 ABBA01058724;ABBA01058725;AC026353;AK093355;AMYH02008083;BC043538;BI828519;HG496283;HG496284;HG496285;HG496286;HG496287;HG496289;NR_033843 Hs.390443 pseudo ENSG00000244227 HGNC:50536 VALIDATED 8656349 LINC01340 long intergenic non-protein coding RNA 1340 ASSOCIATED WITH Lung Neoplasms (inferred) 5 q15 97504696 97671051 + 8554872 24324551 102546227 ABBA01069218;ABBA01069219;AC093258;AC108088;AMYH02011839;BQ432570;HG498272;NR_105028 Hs.582516 ncrna ENSG00000250331 HGNC:50550 VALIDATED 8656802 LINC01351 long intergenic non-protein coding RNA 1351 1 1 190447390 190450524 + 190478260 190493858 + 101929120 ABBA01027668;AL158838;AL391645;AMYH02002354;AW118621;CR936711;HG493030;NR_110716;NR_110717;XR_241164;XR_248651;XR_248652;XR_250917;XR_426880;XR_431320 Hs.602301 ncrna HGNC:50577 VALIDATED 8656230 LINC01352 long intergenic non-protein coding RNA 1352 1 1 221002597 221005771 + 220829255 220832429 + 12477932 101929730 ABBA01048073;AL445423;AMYH02002734;BC034007;BC045735;HG493230;NR_110797;XR_247065;XR_248685;XR_250956 Hs.398159 ncrna ENSG00000238078 HGNC:50578 VALIDATED 8656665 LINC01349 long intergenic non-protein coding RNA 1349 1 1 1 p21.2 99350351 99367436 - 101092605 101112560 - 100627049 100647004 - 100128787 AA400514;AA400646;ABBA01045437;ABBA01045438;AC099670;AMYH02001560;CH471097;HG492321;NR_038914 EAW72952;EAW72953 Hs.536050 ncrna HGNC:50568 VALIDATED 8656363 LINC01353 long intergenic non-protein coding RNA 1353 1 1 1 176386099 176387197 + 203256164 203257926 + 203287036 203288798 + 100506775 ABBA01027483;AL359090;AL513326;AMYH02002513;AW117362;CD370898;CK902257;HG493092;HG493093;NR_117097;NR_117098;XR_111974;XR_241175;XR_250927;XR_425053;XR_426888;XR_431329 Hs.443859 ncrna HGNC:50580 VALIDATED 8656791 LINC01354 long intergenic non-protein coding RNA 1354 1 1 1 q42.2 207933633 207937522 - 234663637 234667564 - 234527891 234531779 - 12477932 100506795 ABBA01033100;AL161640;AMYH02002928;BC040195;HG493332;HG493333;NR_038426 Hs.448989 ncrna ENSG00000231768 HGNC:50581 VALIDATED 8656476 LINC01348 long intergenic non-protein coding RNA 1348 1 1 q42 208471673 208476057 - 235065479 235069818 - 16344560 731656 AA345641;ABBA01033113;ABBA01033114;AK128489;AV652367;AV719684;BX100191;DA457760;DB348942;FP700125;NR_027454;W90538 Hs.702477 ncrna HGNC:50567 VALIDATED 8656465 LINC01344 long intergenic non-protein coding RNA 1344 ASSOCIATED WITH Lung Neoplasms (inferred) 1 1 q25.3 182098445 182213534 - 182203945 182314061 - 8554872 14702039 400799 ABBA01027770;ABBA01027771;ABBA01027772;ABBA01027773;AK128015;AL390856;AL513480;AMYH02002266;AMYH02002267;AMYH02002268;AMYH02002269;BX096536;HG492989;HG492991;NR_104175 Hs.634884;Hs.738188 GS1-122H1.2 ncrna ENSG00000228918 HGNC:50554 VALIDATED 8656713 LINC01355 long intergenic non-protein coding RNA 1355 1 1 23607802 23613373 - 23281309 23286609 - 100996511 ABBA01059866;AL109936;AMYH02000489;BQ007283;BX113324;HG491776;NR_110616;XR_425128;XR_426669;XR_431142 Hs.99836 ncrna HGNC:50584 VALIDATED 8656392 LINC01360 long intergenic non-protein coding RNA 1360 1 1 73771853 73804560 + 73306170 73338877 + 12477932 101927295 ABBA01074433;AI674083;AL391297;AMYH02001264;BC041341;HG492172;NR_110676;NR_110677;XR_246344;XR_248791;XR_250761 Hs.436589;Hs.576114 ncrna ENSG00000233973 HGNC:50593 VALIDATED 8656872 LINC01359 long intergenic non-protein coding RNA 1359 1 1 65437908 65458695 - 64972225 65067751 - 14702039;23518928 101927084 ABBA01074551;ABBA01074552;AK126239;AL357078;AL606517;AMYH02001174;AMYH02001175;BC035370;BI825893;HG492136;HY226751;KF495968;NR_119383;XR_246337;XR_425162;XR_425163;XR_425164;XR_425165;XR_426702;XR_426703;XR_426704;XR_426705;XR_431176;XR_431177;XR_431178;XR_431179;XR_431180 Hs.734218 ncrna HGNC:50591 VALIDATED 8656450 LINC01362 long intergenic non-protein coding RNA 1362 p31.1 103283057 BC043539 Hs.551280 ncrna HGNC:50596 8656016 LINC01350 long intergenic non-protein coding RNA 1350 1 1 185527511 185597634 - 185558379 185628502 - 12801632 101929093 ABBA01027713;ABBA01027714;AF508906;AF510427;AL133383;AMYH02002309;HG493009;NR_110793;XR_241163;XR_248653;XR_250916 Hs.535227 GS1-204I12.1 ncrna ENSG00000228309 HGNC:50575 VALIDATED 8656032 LINC01358 long intergenic non-protein coding RNA 1358 ASSOCIATED WITH Lung Neoplasms (inferred) 1 1 59486081 59507897 + 59020409 59103660 + 8554872 101926925 ABBA01074651;ABBA01074652;AC093425;AC105277;AL592431;AMYH02001100;HG492096;HY083857;HY272075;NR_110626;XR_246328;XR_248805;XR_250745;XR_425169;XR_425170;XR_426695;XR_426696;XR_431169;XR_431170 ncrna HGNC:50589 VALIDATED 8656682 LINC01365 long intergenic non-protein coding RNA 1365 4 4 120720261 120725670 - 119799096 119804515 - 12477932 101927007 ABBA01044716;AC125245;AMYH02009991;BC038750;HG497206;HG497207;NR_110660;XR_244705;XR_249649;XR_251644;XR_425767;XR_427595;XR_431765 Hs.143958 ncrna ENSG00000250772 HGNC:50603 VALIDATED 8656256 LINC01364 long intergenic non-protein coding RNA 1364 1 1 1 86064887 86083022 - 87819207 87837338 - 87353524 87371655 - 100505768 ABBA01045606;AC092392;AMYH02001420;BC043534;HG492241;NR_038324 Hs.125247 ncrna ENSG00000227290 HGNC:50599 VALIDATED 8656539 LINC01356 long intergenic non-protein coding RNA 1356 1 1 p13.2 113362791 113393265 - 112820169 112850643 - 12477932;14702039 100996702 Q8N9X3 ABBA01068426;ABBA01068427;ABBA01068428;ABBA01068429;ABBA01068430;ABBA01068431;AK093435;AL390729;AL603832;AMYH02001750;AMYH02001751;AMYH02001752;BC019891;BC028023;HG492445;NR_103746 BAC04163;Q8N9X3 Hs.632431 ncrna ENSG00000215866 HGNC:50587 VALIDATED 8656830 LINC01366 long intergenic non-protein coding RNA 1366 5 5 5 q35.1 165790369 165794038 + 169758435 169762104 + 170331393 170335100 + 12477932;14702039;16344560 257358 ABBA01044097;AC034199;AK093725;AMYH02012718;BC093717;BC111994;BG494977;BQ053612;CD518314;DB107949;DB343102;HG498743;HG498744;HG498745;NR_026945;NR_108024;NR_108025 Hs.249689 ncrna HGNC:27416 VALIDATED 8656561 LINC01361 long intergenic non-protein coding RNA 1361 1 1 83439565 83451891 - 82973882 82986208 - 8889549;9461395 101927498 ABBA01074341;AL354654;AMYH02001369;BC037222;HG492211;HG492212;NR_110632;NR_110633;U80773;XR_246352;XR_246353;XR_248783;XR_248784;XR_250769;XR_250770 ncrna ENSG00000236268 HGNC:50595 VALIDATED 8657314 LINC01370 long intergenic non-protein coding RNA 1370 20 20 38632999 38636997 + 40004461 40008529 + 100505663 ABBA01052555;AL133419;AMYH02037075;BI792917;BQ417071;CK821054;HG511360;HG511361;NR_109936;NR_109937 Hs.559348 ncrna ENSG00000237767 HGNC:50608 VALIDATED 8656597 LINC01363 long intergenic non-protein coding RNA 1363 1 1 167144599 167165042 - 167175362 167195805 - 18940312;21697133 101928484 AB593143;ABBA01047251;ABBA01047252;AL451050;AMYH02002084;HG492890;HG492892;HG492893;NR_110811;XR_241141;XR_248636;XR_250894 Hs.568496 RBSG4 ncrna HGNC:50598 VALIDATED 8661554 LINC01375 long intergenic non-protein coding RNA 1375 10 10 91675246 91717130 - 89915489 89957373 - 14702039 101926924 ABBA01021941;ABBA01021942;AK093219;AL390206;AMYH02023514;HG503140;NR_110655;XR_246158;XR_247572;XR_252788 Hs.500498 ncrna ENSG00000226159 HGNC:50632 VALIDATED 8661500 LINC01377 long intergenic non-protein coding RNA 1377 5 p15.33 3177835 3181232 + 102467074 ABBA01010205;AC091832;AMYH02010784;HY010738;NR_104617 Hs.575250 ncrna HGNC:50642 VALIDATED 8698942 LINC01378 long intergenic non-protein coding RNA 1378 ASSOCIATED WITH Lung Neoplasms (inferred) q26 8554872 103689918 AC092661;AC109592;AC113617;BI758522;DB466276;KF510855;NR_125757 Hs.582062 ncrna HGNC:50645 VALIDATED 7404292 LINC01387 long intergenic non-protein coding RNA 1387 18 18 18 p11.31 6396751 6477258 + 6511415 6590652 + 6511416 6590653 + 16177791;17213182;20379614;22493691 100130480 J3KSC0 ABBA01049896;AMYH02034254;AP001166;AP005202;DT218598;LN608658;NM_001243517;NR_120518 J3KSC0;NP_001230446 Hs.646267 C18orf64 putative uncharacterized protein C18orf64;putative uncharacterized protein LOC100130480 APPROVED ncrna HGNC:44660 VALIDATED 8661578 LINC01391 long intergenic non-protein coding RNA 1391 q22.3 14702039 103344930 AK128202;NR_121649 Hs.195033 ncrna HGNC:50666 VALIDATED 8661322 LINC01393 long intergenic non-protein coding RNA 1393 7 q31.2 115118738 115125475 + 102724386 AC002466;AC068610;AMYH02016614;BC022431;HG500513;HG500514;NR_120521;XR_428231;XR_432214 Hs.352357 ncrna HGNC:50669 VALIDATED 8661431 LINC01395 long intergenic non-protein coding RNA 1395 11 11 q24.3 129482011 129487164 - 129612116 129617269 - 12477932 101929557 AMYH02025775;AP003500;BC038579;NR_120582;XR_246501;XR_252997 Hs.385785 ncrna HGNC:50674 VALIDATED 8698779 LINC01396 long intergenic non-protein coding RNA 1396 p16.2 103695434 AC092437;AW195733;NR_125765 Hs.550830 ncrna HGNC:50675 VALIDATED 8661608 LINC01398 long intergenic non-protein coding RNA 1398 1 1 p33 46912346 46915376 - 46446674 46449704 - 12477932 101929651 ABBA01050837;AL137797;AMYH02000961;BC021746;HG491988;NR_121680;XR_246320;XR_248778;XR_250735 Hs.638707 ncrna ENSG00000224863 HGNC:50678 VALIDATED 8661546 LINC01405 long intergenic non-protein coding RNA 1405 12 12 12 q24.11 111001226 111002072 + 111374406 111375252 + 110936602 110937448 + 100131138 ABBA01019877;AC002351;AJ276555;AMYH02027196;AW015651;NR_036513 CAC81755 Hs.152129 ncrna ENSG00000185847 HGNC:50688 VALIDATED 8657178 LINC01372 long intergenic non-protein coding RNA 1372 7 7 66798930 66805011 + 67335976 67340024 + 101929736 ABBA01048935;AC006480;AMYH02015921;BC017910;HG500319;NR_108104 Hs.634050 ncrna ENSG00000235475 HGNC:50623 VALIDATED 8662025 LINC01410 long intergenic non-protein coding RNA 1410 q13 103352539 AL512625;BC039680;CR627148;NR_121647 Hs.351215 ncrna HGNC:50702 VALIDATED 9068849 LINC01411 long intergenic non-protein coding RNA 1411 5 5 q35.2 173953231 173954142 + 174526228 174527139 + 16344560 101928176 ABBA01044013;AC108104;AC108112;AMYH02012790;BG330133;BM051440;BU620825;BX110485;DA346958;NR_125806;XR_245300;XR_249886;XR_251922 Hs.436014 ncrna HGNC:50703 VALIDATED 8661928 LINC01412 long intergenic non-protein coding RNA 1412 2 2 q22.3 145324003 145337001 + 144521899 144579434 + 101928455 ABBA01028050;ABBA01028051;AC009951;AC010090;AI671392;AMYH02004922;HG494690;HY038051;NR_110570;XR_244867;XR_249209;XR_251190 Hs.333693 ncrna HGNC:50704 VALIDATED 8662188 LINC01413 long intergenic non-protein coding RNA 1413 15 15 q21.3 57615281 57617237 + 57319064 57325039 + 15197164;7782076 101928611 ABBA01038994;AC016525;AI216899;AMYH02030519;CF272694;HG507065;NR_120337;T19324;XR_243154;XR_248128;XR_253378 Hs.569495 ncrna HGNC:50705 VALIDATED 8661979 LINC01419 long intergenic non-protein coding RNA 1419 q21.13 103352670 AC022821;BC038578;NR_122034 Hs.399852 TCONS_00014497 ncrna HGNC:50712 VALIDATED 8662204 LINC01423 long intergenic non-protein coding RNA 1423 21 q22 38325822 38333340 - 16344560 102724678 ABBA01011096;AI752367;AMYH02037814;AP001422;BG938665;DA464432;HG511806;NR_110545;XR_425271;XR_430371;XR_433642 Hs.635675 ncrna HGNC:50732 VALIDATED 8662134 LINC01420 long intergenic non-protein coding RNA 1420 X X X p11.1 60587982 60698133 + 56755718 56844004 + 56729285 56817571 + 12477932;23720494 550643 ABBA01069388;ABBA01069389;ABBA01069390;ABBA01069391;ABBA01069392;ABBA01069393;ABBA01069394;ABBA01069395;ABBA01069396;AL158200;AL354865;AMYH02039526;AMYH02039527;BC048131;BC053960;BC053962;BC062451;BX537532;CH471154;KF459114;NR_015367 CAH56177;EAW93234 Hs.355559 ncrna HGNC:50713 PREDICTED 8661355 LINC01384 long intergenic non-protein coding RNA 1384 20 20 22569653 22588369 - 22587522 22607517 - 20152958 101929685 ABBA01016170;AL121722;AMYH02036828;BQ447805;HG511256;NR_109883 Hs.563018 ncrna ENSG00000237396 HGNC:50656 VALIDATED 8661897 LINC01422 long intergenic non-protein coding RNA 1422 22 22 q12.1 27254406 27262664 + 26790411 26920625 + 16344560 101929539 ABBA01055207;AMYH02038170;AMYH02038171;BX647841;CA335834;DA768843;HG512168;KF457395;NR_110540;XR_425317;XR_430429;XR_430430;XR_433690;Z95889;Z97353 Hs.517505;Hs.639900 ncrna HGNC:50728 VALIDATED 8662241 LINC01424 long intergenic non-protein coding RNA 1424 21 21 46221990 46224018 + 44802241 44804717 + 101928689 ABBA01074173;ABBA01074174;AL773603;AL773604;AMYH02037918;BX100043;HY006996;N50783;NR_109928 Hs.116142 ncrna HGNC:40558 VALIDATED 8662250 LINC01425 long intergenic non-protein coding RNA 1425 21 21 23119305 23169735 + 21746985 21797415 + 101927821 ABBA01057163;AF241725;AMYH02037605;AMYH02037606;AP000475;BC035642;HG511634;HG511635;KF457078;KF457079;KF457083;NR_109958 Hs.334181 ncrna ENSG00000233997 HGNC:50733 VALIDATED 8662039 LINC01427 long intergenic non-protein coding RNA 1427 20 20 p11.22 22260850 22263310 - 22280228 22282672 - 101929663 ABBA01054113;AI142372;AI147364;AL049737;AMYH02036826;BU568468;CR627206;HG511251;NR_110615;XR_244255;XR_248909;XR_253947 Hs.143562 ncrna ENSG00000225321 HGNC:50737 VALIDATED 8661848 LINC01426 long intergenic non-protein coding RNA 1426 21 21 36118122 36157183 + 34745825 34784886 + 16344560 100506385 ABBA01057369;AK025786;AMYH02037757;AMYH02037758;AP000330;DA551587;HG511773;KF457237;KF457238;NR_038885;NR_038886 Hs.120179 ncrna ENSG00000234380 HGNC:50734 VALIDATED 8662068 LINC01430 long intergenic non-protein coding RNA 1430 20 20 43077417 43079197 - 44448777 44450557 - 16344560 101927242 ABBA01052642;AL132772;AMYH02037135;AW172652;BX090567;DB076868;HG511382;NR_109893 Hs.143307 ncrna HGNC:50742 VALIDATED 8661825 LINC01429 long intergenic non-protein coding RNA 1429 20 20 50448336 50479452 - 51831797 51862913 - 14702039;16344560 101927678 ABBA01052813;ABBA01052814;ABBA01052815;ABBA01052816;AK096285;AL034420;AMYH02037268;DA699302;HG511438;NR_110016 Hs.683840 ncrna ENSG00000227964 HGNC:50741 VALIDATED 8661863 LINC01428 long intergenic non-protein coding RNA 1428 20 20 p12.3 7127114 7238911 - 7146467 7258264 - 18759275 101929265 ABBA01053908;ABBA01053909;AL080248;AL096799;AMYH02036669;BC038533;HG511161;HG511162;KF456803;NR_110609;XR_244238;XR_248891;XR_253930 Hs.637730 ncrna HGNC:50738 VALIDATED 8662123 LINC01431 long intergenic non-protein coding RNA 1431 20 20 20 23410604 23412015 - 23337231 23338764 - 23356594 23358127 - 100505683 ABBA01016176;AI693606;AL096677;AMYH02036833;HG511266;HG511267;NR_109884 Hs.140295 ncrna ENSG00000232645 HGNC:50744 VALIDATED 8661914 LINC01432 long intergenic non-protein coding RNA 1432 ASSOCIATED WITH Lung Neoplasms (inferred) 20 20 p11.22 22034728 22055292 + 22054090 22074654 + 8554872 18849991;18849994;22693459 100270679 ABBA01054111;AL109807;AL157412;AMYH02036826;BC038192;BE789145;HG511249;KF456859;NR_038394 Hs.385748 ncrna ENSG00000234435 HGNC:50745 VALIDATED 8698836 LINC01435 long intergenic non-protein coding RNA 1435 ASSOCIATED WITH Lung Neoplasms (inferred) q25.1 8554872 24932682 103695365 AA406208;AL162273;AL355275;BX116650;KF455284;NR_125760 Hs.648991 TCONS_00018040 ncrna HGNC:50753 VALIDATED 8662112 LINC01433 long intergenic non-protein coding RNA 1433 20 20 20 p13 4238561 4241424 + 4173737 4176600 + 4193090 4195953 + 11181995;12477932 728228 ABBA01053849;AL121675;AMYH02036620;AW651752;BC069037;CH471133;HG511141;NR_033917 EAX10456 Hs.636379 ncrna ENSG00000230176 HGNC:50746 VALIDATED 8662659 LINC01436 long intergenic non-protein coding RNA 1436 21 21 q22.12 37377636 37386035 + 36005338 36008988 + 24932682;8889548 100996609 ABBA01057380;AMYH02037771;AP000688;CF127993;HG511777;NR_110419;XR_425267;XR_430368;XR_433639 Hs.742062 ncrna HGNC:50754 VALIDATED 8662785 LINC01440 long intergenic non-protein coding RNA 1440 20 q13.2 55423043 55426791 + 102723578 ABBA01052882;AL121826;AMYH02037324;BI464301;BX107747;DB449830;HG511460;NR_110629;XR_425252;XR_430328;XR_433621 Hs.446269 ncrna ENSG00000235166 HGNC:50762 VALIDATED 8662798 LINC01441 long intergenic non-protein coding RNA 1441 20 20 54036874 54043735 - 55420336 55427197 - 14702039 101927796 ABBA01052882;AK056050;AL121826;AMYH02037324;HG511459;NR_110064 Hs.737040 ncrna ENSG00000224008 HGNC:50763 VALIDATED 8662582 LINC01443 long intergenic non-protein coding RNA 1443 18 18 p11.21 14946266 14973821 + 14946267 14973756 + 12477932 400644 ABBA01048263;AK126243;AMYH02034361;AP005121;BC108325;HG509812;NR_104164 Hs.514732;Hs.651952 ncrna ENSG00000266554 HGNC:50768 VALIDATED 8663050 LINC01442 long intergenic non-protein coding RNA 1442 q21.2 14702039 103456507 AA393276;AK097816 Hs.558805;Hs.638393 ncrna HGNC:50764 8662715 LINC01444 long intergenic non-protein coding RNA 1444 18 18 p11.21 14969003 14970344 - 14969004 14969903 - 101927642 ABBA01048263;AMYH02034361;AP005121;CF995332;HG509814;NR_110783;XR_243839;XR_248458;XR_253773 Hs.711242 ncrna HGNC:50769 VALIDATED 8662564 LINC01445 long intergenic non-protein coding RNA 1445 7 p11.2 54330783 54349828 + 102723605 ABBA01011840;AC073269;AC096658;AMYH02015725;AV709400;BF966467;HG500267;NR_120515;NR_120516;XR_426182;XR_428150;XR_432159 Hs.154626 ncrna ENSG00000231427 HGNC:50771 VALIDATED 8662771 LINC01447 long intergenic non-protein coding RNA 1447 7 7 47661537 47669491 + 47621939 47629893 + 14702039 101929086 ABBA01041094;ABBA01041095;AC095067;AK056440;AMYH02015659;HG500250;NR_108090 Hs.563487 ncrna ENSG00000236078 HGNC:50783 VALIDATED 8662693 LINC01448 long intergenic non-protein coding RNA 1448 7 7 42701325 42746046 - 42661726 42706447 - 101928795 ABBA01058176;ABBA01058177;AC027269;AMYH02015602;BC040864;HG500212;NR_110833;XR_242169;XR_250180;XR_252209 Hs.566753 ncrna ENSG00000238284 HGNC:50790 VALIDATED 8662512 LINC01450 long intergenic non-protein coding RNA 1450 7 7 41004277 41019537 - 40964678 40979939 - 101928744 ABBA01058160;AC005029;AMYH02015585;BX647937;HG500206;KF511033;NR_110831;XR_242167;XR_250178;XR_252207 Hs.639767 ncrna ENSG00000232458 HGNC:50792 VALIDATED 8698941 LINC01461 long intergenic non-protein coding RNA 1461 p22.3 16344560 103695366 AC114482;AL359762;DA091614;NR_125761 Hs.576097 TCONS_00001552 ncrna HGNC:50859 VALIDATED 8695003 LINC01467 long intergenic non-protein coding RNA 1467 14 14 82071688 82089405 - 81605347 81623061 - 101928559 ABBA01030607;AK130854;AL136039;AMYH02029632;BC029835;HG506420;NR_110074 Hs.525499 ncrna ENSG00000258977 HGNC:50911 VALIDATED 1606929 LINC01465 long intergenic non-protein coding RNA 1465 INTERACTS WITH cyclosporin A 12 12 12 q14.1 62664078 62665761 - 62995531 62997214 - 62601751 62603434 - 6480464 12477932 283416 Q8N7H1 ABBA01026631;AC026115;AC048341;AK098456;AMYH02026635;BC038738;BC136288;CH471054;LN608448;NM_175895;NR_121682 AAH38738;AAI36289;BAC05309;EAW97110;NP_787091;Q8N7H1 Hs.375881 1854682;5493695 RH46200;UniSTS:490402 C12orf61;FLJ25590 OTTHUMP00000242557;putative uncharacterized protein C12orf61 APPROVED ncrna HGNC:26364 08070 VALIDATED 8694912 LINC01471 long intergenic non-protein coding RNA 1471 3 3 q21.3 127199533 127255803 - 127480690 127536960 - 101927149 ABBA01020877;AC016968;AK098672;AMYH02007601;BX537548;DB037524;HG496033;NR_125397;XR_241560;XR_249470;XR_251441;XR_425633;XR_431629 Hs.407798 ncrna ENSG00000239921 HGNC:51106 VALIDATED 1602028 LINC01446 long intergenic non-protein coding RNA 1446 ASSOCIATED WITH Lung Neoplasms (inferred) 7 7 7 p12.1 53783722 53940133 - 53723202 53879624 - 53655509 53811931 - 8554872 401337 Q6ZRY6 ABBA01011833;ABBA01011834;ABBA01011835;ABBA01011836;AC007964;AC074348;AK127870;AMYH02015721;CH236957;HG500265;NR_038371 BAC87170 Hs.531378 GS1-179L18.1 APPROVED ncrna ENSG00000205628 HGNC:50773 16997 VALIDATED 8662467 LINC01449 long intergenic non-protein coding RNA 1449 7 7 41141202 41173099 + 41101604 41133501 + 12477932 101928773 ABBA01058161;AC005022;AMYH02015586;BC033981;HG500207;NR_110832;XR_242168;XR_250179;XR_252208 Hs.382363 ncrna ENSG00000224017 HGNC:50791 VALIDATED 8694892 LINC01473 long intergenic non-protein coding RNA 1473 2 2 q32.1 186897460 186946138 - 186033531 186086317 - 8889548 101927217 AA886892;ABBA01062328;ABBA01062329;AC097500;AMYH02005402;AMYH02005403;AMYH02005404;BM725722;HG495039;HG495040;NR_110218 Hs.130011 ncrna ENSG00000237877 HGNC:51109 VALIDATED 8695282 LINC01468 long intergenic non-protein coding RNA 1468 10 10 q21.1 54210637 54215032 - 52450877 52455272 - 25045670 101928687 ABBA01052512;AC009986;AL731545;AMYH02023087;BC015429;BF981308;HG502912;NR_120641;NR_120642;XR_246116;XR_247522;XR_252750 Hs.380362 lnc-MBL2-4 ncrna ENSG00000231131 HGNC:50913 VALIDATED 8695062 LINC01477 long intergenic non-protein coding RNA 1477 18 18 q12.3 37646250 37679197 + 40066286 40099233 + 12477932 101927900 ABBA01022391;AC011266;AC104209;AMYH02034594;BC034625;BC045816;HG509938;NR_110791;XR_243872;XR_248465;XR_253791 Hs.385522 ncrna ENSG00000261715 HGNC:51119 VALIDATED 8695308 LINC01476 long intergenic non-protein coding RNA 1476 ASSOCIATED WITH Lung Neoplasms (inferred) 17 17 q23.1 57529353 57604307 - 59430881 59526839 - 8554872 16344560 101927728 ABBA01041380;ABBA01041381;ABBA01041382;ABBA01041383;ABBA01041384;AC004167;AC005667;AC091059;AMYH02033713;AMYH02033714;AMYH02033715;DA175498;HG509295;HG509296;NR_110813;XR_243735;XR_248395;XR_253710 Hs.569720 ncrna HGNC:51117 VALIDATED 8694535 LINC01478 long intergenic non-protein coding RNA 1478 ASSOCIATED WITH Lung Neoplasms (inferred) 18 18 q12.3 41903400 42111662 - 44323435 44531697 - 8554872 12477932;16344560;22885689 101927921 ABBA01022345;ABBA01022346;AC046181;AC110014;AC120055;AMYH02034630;AMYH02034631;AMYH02034632;AMYH02034633;BC051727;DB037088;HG509959;HG509960;HY218918;KC877691;NR_110792;XR_243873;XR_248464;XR_253792 Hs.464986 ncrna ENSG00000267337 HGNC:51121 VALIDATED 8694954 LINC01474 long intergenic non-protein coding RNA 1474 9 9 q21.13 75486916 75488878 - 72863491 72873962 - 101927258 AA528517;ABBA01033865;ABBA01033866;ABBA01033867;AL162416;AL591031;AMYH02020984;BE391770;BE729650;BE893827;HG502135;HG502136;HG502137;NR_121120;NR_121180;NR_121181;XR_242621;XR_250481;XR_252590;XR_426391;XR_428551;XR_432447 Hs.586433;Hs.636707 ncrna HGNC:51111 VALIDATED 8694634 LINC01475 long intergenic non-protein coding RNA 1475 10 10 q24.2 101286107 101291023 - 99526350 99531266 - 17554261;17554300;18587394;19915572;20228798;20228799;21297633;22412388 101927324 ABBA01063247;AL353719;AL513542;AMYH02023635;DQ372722;DQ372723;HG503193;HG503194;NR_120618;XR_246177;XR_246178;XR_247598;XR_252808;XR_252809 Hs.642588;Hs.642589 ncrna ENSG00000257582 HGNC:51113 VALIDATED 8695849 LINC01484 long intergenic non-protein coding RNA 1484 5 5 q35.2 173135813 173141854 - 173707599 173746209 - 16344560 101928136 ABBA01044018;ABBA01044019;AC008674;AK074818;AMYH02012782;AMYH02012783;DA145520;DB312919;HG498771;NR_108027 Hs.449267;Hs.582570;Hs.638681 ncrna ENSG00000253686 HGNC:51136 VALIDATED 8695429 LINC01483 long intergenic non-protein coding RNA 1483 ASSOCIATED WITH Lung Neoplasms (inferred) 17 17 q24.3 67586136 67624493 + 69593987 69903000 + 8554872 12477932;16344560;22569225;23362303 101928122 ABBA01028928;ABBA01028929;ABBA01028930;ABBA01028931;ABBA01028932;ABBA01028933;ABBA01028934;ABBA01028935;ABBA01028936;AC002538;AC002545;AC003051;AC004756;AMYH02033886;AMYH02033887;AMYH02033888;AMYH02033889;AMYH02033890;AMYH02033891;BC068583;BC094791;DA013434;DA832262;DA856452;HG509372;HG509373;KC877671;KF456312;NR_109971;NR_109972 Hs.579342;Hs.732709 ncrna ENSG00000227517 HGNC:51130 VALIDATED 8695502 LINC01481 long intergenic non-protein coding RNA 1481 ASSOCIATED WITH Lung Neoplasms (inferred) 12 12 q15 70616139 70619272 - 70219133 70225492 - 8554872 16344560 101928062 AC084032;AMYH02026721;CA418524;DA349921;DB462634;HG504949;HG504950;HG504951;HG504954;HY002672;HY013176;HY048577;HY064474;NR_120459;NR_120460;NR_120461;XR_246002;XR_253080;XR_429160;XR_432853 Hs.568059 ncrna HGNC:51126 VALIDATED 8695534 LINC01482 long intergenic non-protein coding RNA 1482 17 17 q24.2 66624295 66675747 + 68628154 68679606 + 24324551 101928104 ABBA01028955;AC005799;AC011591;AC079210;AL117652;AMYH02033876;BX484824;HG509366;NR_110825;XR_243746;XR_248413;XR_253721 Hs.569826 ncrna ENSG00000267659 HGNC:51128 VALIDATED 8695588 LINC01479 long intergenic non-protein coding RNA 1479 ASSOCIATED WITH Lung Neoplasms (inferred) 12 12 q15 68323039 68359874 + 67929259 67970017 + 8554872 16341674 101927922 ABBA01026561;AC005294;AC007286;AMYH02026693;BM850770;BX107064;HG504925;NR_120456;XR_424371;XR_429158;XR_432848 Hs.450769 ncrna ENSG00000255772 HGNC:51123 VALIDATED 7490003 LINC01452 long intergenic non-protein coding RNA 1452 10 p11.21 35778302 35800920 + 102578074 ABBA01033328;AL356093;AMYH02022631;KF154780;NR_110138 PCAT5;TPCAT-10-36067 APPROVED ncrna HGNC:48665 VALIDATED 8695571 LINC01470 long intergenic non-protein coding RNA 1470 ASSOCIATED WITH Lung Neoplasms (inferred) 5 5 q33.1 151998525 152351909 - 152618965 152972349 - 8554872 14702039;22688191 101927134 ABBA01026245;ABBA01026246;ABBA01026247;AC091952;AC091969;AC094098;AC126772;AK092848;AK123816;AMYH02012483;AMYH02012484;AMYH02012485;AMYH02012486;AMYH02012487;AMYH02012488;AMYH02012489;HG498630;HG498631;NR_109877 Hs.531423 ncrna ENSG00000249484 HGNC:51105 VALIDATED 8694848 LINC01485 long intergenic non-protein coding RNA 1485 5 5 q35.2 173215923 173217945 - 173786790 173790942 - 16344560;16712791 101928154 ABBA01044017;AC008674;AMYH02012783;CB162805;DA640657;DA642776;DB321315;HG498775;HG498776;NR_108028 Hs.366725 ncrna HGNC:51138 VALIDATED 8695168 LINC01486 long intergenic non-protein coding RNA 1486 12 12 q24.11 109791992 109797304 - 109354187 109359499 - 101928138 ABBA01005068;AC012384;AI150307;AMYH02027170;BX107914;HG505160;NR_120462;XR_243028;XR_247870;XR_253117 Hs.143843 ncrna ENSG00000256560 HGNC:51137 VALIDATED 8695807 LINC01480 long intergenic non-protein coding RNA 1480 19 19 q13.2 42041746 42042975 + 41535384 41537130 + 101927931 ABBA01040811;AC236970;AC243960;AK123333;BE550500;HG510820;HG510821;NR_110724;XR_243997;XR_248570;XR_253890;XR_424986;XR_424987;XR_430245;XR_430246;XR_430809;XR_430810;XR_430811;XR_433576;XR_433577 Hs.158951 ncrna HGNC:51124 VALIDATED 8695832 LINC01487 long intergenic non-protein coding RNA 1487 3 3 q25.2 154958734 154960913 + 155240945 155243124 + 12477932 101928190 ABBA01058861;AC104831;AMYH02007953;BC037382;BG772196;BU570602;HG496212;NR_125399;XR_241602;XR_251483;XR_425665;XR_427428;XR_431649 Hs.121410 ncrna ENSG00000241336 HGNC:51139 VALIDATED 8694986 LINC01489 long intergenic non-protein coding RNA 1489 12 12 p12.3 15154816 15158135 + 15001833 15006791 + 101928340 AA056540;AA056644;ABBA01067888;AC020613;AMYH02026097;HG504548;NR_120466;XR_242919;XR_247786;XR_253025 Hs.401232 ncrna ENSG00000255727 HGNC:51145 VALIDATED 8694746 LINC01490 long intergenic non-protein coding RNA 1490 12 12 q21.31 81158001 81163670 + 80763154 80769891 + 12477932 101928420 ABBA01053491;AC025568;AMYH02026828;BC037383;DB446795;HG505021;HY030171;NR_120468;NR_120469;NR_120470;XR_246013;XR_247866;XR_253092 Hs.739989 ncrna ENSG00000257741 HGNC:51146 VALIDATED 8695235 LINC01491 long intergenic non-protein coding RNA 1491 15 15 q21.1 48119768 48138426 - 47791169 47846229 - 101928442 ABBA01039146;ABBA01039147;ABBA01039148;AC018900;AMYH02030386;AMYH02030387;AW275130;DB443696;HG506998;HG506999;NR_120336;XR_243148;XR_248135;XR_253371;XR_424632;XR_429528;XR_433094 Hs.242804 ncrna ENSG00000259572 HGNC:51148 VALIDATED 8694554 LINC01492 long intergenic non-protein coding RNA 1492 ASSOCIATED WITH Lung Neoplasms (inferred) 9 9 q31.1 105902810 106087315 - 103140528 103325033 - 8554872 12477932;22005930 101928496 ABBA01042845;ABBA01042846;AL589823;AL589844;AMYH02021365;AMYH02021366;BC035187;BU852916;HG502321;NR_121578;XR_242659;XR_250525;XR_252628 Hs.410860;Hs.649825 ncrna ENSG00000225564 HGNC:51149 VALIDATED 8695295 LINC01493 long intergenic non-protein coding RNA 1493 11 11 p12 38670408 38676803 + 38648858 38655252 + 101928536 ABBA01060829;AC022796;AC027157;AI218577;AMYH02024635;BX099902;HG503701;NR_120553;XR_242868;XR_247633;XR_252878 Hs.144776 ncrna ENSG00000254562 HGNC:51150 VALIDATED 8694677 LINC01494 long intergenic non-protein coding RNA 1494 2 2 q35 219765536 219795358 - 218900814 218930637 - 101928537 ABBA01023855;AC073128;AC097468;AMYH02005810;BC038542;BI488698;HG495235;NR_110238 Hs.611129 ncrna ENSG00000228135 HGNC:51152 VALIDATED 8695860 LINC01495 long intergenic non-protein coding RNA 1495 ASSOCIATED WITH Lung Neoplasms (inferred) 11 p14.3 22445688 22492023 - 8554872 102723378 ABBA01061015;AC040936;AC055878;AMYH02024429;BG192115;BX092575;HG503598;NR_120583;XR_424226;XR_428888;XR_432696 Hs.374255 ncrna ENSG00000255323 HGNC:51161 VALIDATED 8695521 LINC01497 long intergenic non-protein coding RNA 1497 17 q24.3 69981250 69983424 + 102723487 ABBA01028927;AC002539;AC004562;AMYH02033893;BU079253;BX099682;HG509377;NR_110874;NR_110875;XR_424871;XR_430012;XR_433432 Hs.451409 ncrna HGNC:51163 VALIDATED 8694621 LINC01496 long intergenic non-protein coding RNA 1496 X p11.22 51502090 51505969 - 16344560 102723426 AA683332;ABBA01059995;AL390060;AMYH02039370;DB061072;HG512539;NR_110654;XR_426527;XR_430514;XR_433755 Hs.584513 ncrna ENSG00000234766 HGNC:51162 VALIDATED 8694500 LINC01498 long intergenic non-protein coding RNA 1498 12 q23.3 108453814 108473047 - 16344560 102723562 ABBA01053134;ABBA01053135;AC010206;AMYH02027154;BX648662;DB089475;HG505152;NR_120483;XR_424385;XR_429185;XR_432880 Hs.455693 ncrna HGNC:51164 VALIDATED 8694722 LINC01500 long intergenic non-protein coding RNA 1500 14 q23.1 58894312 58948341 + 19165232;23251661 102723742 ABBA01018268;AL049873;AL117356;AMYH02029287;AW102585;BI520443;CR739775;HG506271;HG506272;NR_110547;XR_424508;XR_429368;XR_432985 Hs.232734 ncrna HGNC:51166 VALIDATED 8695650 LINC01488 long intergenic non-protein coding RNA 1488 11 11 q13.3 69300329 69308311 + 69485561 69493543 + 101928292 ABBA01010291;AMYH02025035;AP000439;GU369676;KC136297;KC136298;KC136299;KC136300;KC136301;KC136302;KC136303;KC136304;KC136305;KC136306;KC136307;KC136308;NR_120542;NR_120543;NR_120544;NR_120545;XR_247250;XR_247251;XR_247252;XR_247253;XR_247254;XR_247255;XR_247256;XR_247257;XR_247683;XR_247684;XR_247685;XR_247686;XR_247687;XR_247688;XR_247689;XR_252920;XR_252921;XR_252922;XR_252923;XR_252924;XR_252925;XR_252926;XR_252927;XR_424255 ADB98059 Hs.736219 ncrna HGNC:51144 VALIDATED 8695705 LINC01499 long intergenic non-protein coding RNA 1499 ASSOCIATED WITH Lung Neoplasms (inferred) 11 p12 41714583 41821356 + 8554872 16344560 102723644 ABBA01060797;ABBA01060798;ABBA01060799;ABBA01060800;AC021956;AC023442;AMYH02024665;AMYH02024666;DB021385;DB032745;HG503705;NR_120584;XR_424208;XR_428901;XR_432711 Hs.564283 ncrna HGNC:51165 VALIDATED 8699470 LINC01501 long intergenic non-protein coding RNA 1501 9 9 9 q22.2 63659345 63779688 - 93224714 93345028 - 90462432 90582746 - 12477932;14702039;22841784 340515 ABBA01012841;AK128201;AL353619;AL354853;AMYH02021197;AMYH02021198;BC040625;CH471089;HG502226;KF458929;NR_034157 EAW62779 Hs.522284 ncrna HGNC:27988 VALIDATED 8699374 LINC01503 long intergenic non-protein coding RNA 1503 9 9 q34.11 132094584 132109744 + 129332305 129347465 + 16344560;16712791;25045670 100506119 ABBA01043923;AL353803;AMYH02021735;BF432137;CB127541;DA958985;H43169;HG502471;HG502472;HG502473;NR_120685;NR_120686;XR_426440;XR_426441;XR_426442;XR_428602;XR_428603;XR_428604;XR_432501;XR_432502;XR_432503 Hs.624047 ncrna ENSG00000233901 HGNC:51184 VALIDATED 8699260 LINC01504 long intergenic non-protein coding RNA 1504 9 9 74920322 74958153 + 72305406 72341678 + 14702039 100507540 AA436218;ABBA01033854;AK095210;AL135924;AMYH02020976;HG502133;N93488;NR_110952;NR_110953;XR_108989;XR_133520;XR_171788;XR_242615;XR_242616;XR_250475;XR_250476;XR_252584;XR_252585 Hs.54957 ncrna ENSG00000225434 HGNC:51185 VALIDATED 8699220 LINC01506 long intergenic non-protein coding RNA 1506 9 9 71158457 71161569 - 68543541 68546602 - 101927015 ABBA01033793;AL353616;AMYH02020920;CR745134;HG502110;HG502111;NR_109769 Hs.406454 ncrna ENSG00000234506 HGNC:51187 VALIDATED 8699340 LINC01507 long intergenic non-protein coding RNA 1507 ASSOCIATED WITH Lung Neoplasms (inferred) 9 9 q21.31 82604873 82649549 + 79986376 80041745 + 8554872 101927477 ABBA01033960;ABBA01033961;AL160168;AL161782;AL699629;AMYH02021066;BJ997919;CD708789;HG502153;NR_121212;NR_121213;XR_242630;XR_250490;XR_252599;XR_426398;XR_426399;XR_428558;XR_428559;XR_432454;XR_432455 Hs.571630;Hs.694535 ncrna HGNC:51189 VALIDATED 8698790 LINC01509 long intergenic non-protein coding RNA 1509 9 9 q31.2 110189602 110193038 - 107420284 107430836 - 101928720 ABBA01042789;ABBA01042790;AL359552;AMYH02021419;AMYH02021420;BX109000;CR740219;HG502340;HG502341;NR_121581;XR_242666;XR_250518;XR_252635;XR_432487 Hs.125496 ncrna ENSG00000226825 HGNC:51193 VALIDATED 8699372 LINC01511 long intergenic non-protein coding RNA 1511 5 5 p15.33 1363697 1380188 - 1363582 1380073 - 12477932;25085781 100506791 ABBA01034204;AC026748;AMYH02010764;AMYH02010765;BC034612;NR_125810;XR_108578;XR_133388;XR_171484;XR_430665 Hs.146092 ncrna ENSG00000250584 HGNC:51200 VALIDATED 8698971 LINC01505 long intergenic non-protein coding RNA 1505 ASSOCIATED WITH Lung Neoplasms (inferred) 9 9 q31.2 109378339 109442083 + 106616058 106679802 + 8554872 12477932;14702039 100996590 ABBA01042805;ABBA01042806;AK093363;AL512649;AMYH02021410;BC034311;CR742970;HG502335;NR_104145 Hs.147110 ncrna ENSG00000234229 HGNC:51186 VALIDATED 8698930 LINC01508 long intergenic non-protein coding RNA 1508 ASSOCIATED WITH Lung Neoplasms (inferred) 9 9 93063184 93195787 - 90300896 90433489 - 8554872 11329013;22841784 101927873 AA167811;ABBA01012839;ABBA01012840;ABBA01012841;AL161632;AL354853;AL389888;AMYH02021195;AMYH02021196;AMYH02021197;BG219729;HG502223;HG502224;NR_109795 Hs.598482 ncrna ENSG00000231107 HGNC:51190 VALIDATED 8699044 LINC01502 long intergenic non-protein coding RNA 1502 9 9 9 q34.3 108983678 108995864 + 138466771 138478958 + 135574925 135587112 + 14702039 100130954 ABBA01030039;AK098241;AL354761;AMYH02021872;AMYH02021873;HG502535;HG502536;NR_034016;NR_034017;NR_109814 Hs.550769 ncrna ENSG00000237339 HGNC:51183 VALIDATED 8698994 LINC01512 long intergenic non-protein coding RNA 1512 ASSOCIATED WITH Lung Neoplasms (inferred) 6 6 6 p21.1 45410384 45457876 + 43858765 43905944 + 43891028 43938207 + 8554872 14702039;21757650;23408906;25089627 100132354 ABBA01050660;AK095548;AL365499;AMYH02013651;AMYH02013652;AMYH02013653;NR_024478 Hs.376232 ncrna HGNC:51201 VALIDATED 8698780 LINC01515 long intergenic non-protein coding RNA 1515 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 q21.3 67332804 67430291 + 65572968 65670533 + 8554872 15146197;16344560 101928913 AC020641;CD104896;CN411464;DA381152;HG502950;NR_120647;XR_428757;XR_428758 Hs.568857;Hs.640925 ncrna HGNC:51210 VALIDATED 8699104 LINC01514 long intergenic non-protein coding RNA 1514 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 q24.31 102936080 102953904 + 101176323 101194147 + 8554872 12477932 101927396 ABBA01063204;ABBA01063205;AL135794;AMYH02023668;BC038784;HG503209;HY040460;NR_120620;XR_246179;XR_247596;XR_252810 Hs.551648 ncrna ENSG00000237579 HGNC:51207 VALIDATED 8699003 LINC01516 long intergenic non-protein coding RNA 1516 10 10 p12.1 25401987 25450162 + 25113058 25161233 + 12477932;16344560 101929025 ABBA01034431;ABBA01034432;ABBA01034433;ABBA01034434;AL139821;AMYH02022481;AMYH02022482;BC042983;DA753967;HG502739;NR_120649;XR_242736;XR_247480;XR_252709 Hs.553324;Hs.712230 ncrna ENSG00000231422 HGNC:51211 VALIDATED 8699198 LINC01517 long intergenic non-protein coding RNA 1517 10 10 p12.1 29094976 29097148 + 28792803 28808219 + 101929218 ABBA01034372;AI184680;AL355376;AMYH02022542;HY018074;HY052409;NR_120652;XR_242746;XR_424080;XR_432555 Hs.224866 ncrna ENSG00000232624 HGNC:51212 VALIDATED 8698944 LINC01519 long intergenic non-protein coding RNA 1519 10 10 q23.1 86953177 86958694 - 85193421 85198938 - 14702039;23362303 101929624 ABBA01033645;AK097624;AL358787;AMYH02023463;DB052785;HG503096;NR_120667;NR_120668;XR_246150;XR_247548;XR_252780 Hs.588831;Hs.638401 ncrna ENSG00000237267 HGNC:51217 VALIDATED 8699066 LINC01518 long intergenic non-protein coding RNA 1518 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 q11.21 43168461 43187207 - 42673013 42691759 - 8554872 14702039 101929397 ABBA01049992;AK123067;AL022344;AMYH02022702;DB295003;DB446959;DB454367;HG502831;HY051619;KF455227;NR_120656;NR_120657;NR_120658;NR_120659;XR_246524;XR_247513;XR_252739;XR_424113;XR_424114;XR_428733;XR_428734;XR_432564;XR_432565 Hs.729796 ncrna ENSG00000233515 HGNC:51216 VALIDATED 8698837 LINC01520 long intergenic non-protein coding RNA 1520 ASSOCIATED WITH Lung Neoplasms (inferred) 10 q23.1 87209349 87251758 + 8554872 101929684 AC025428;AL117638;AL731532;BG195264;HG503099;NR_120671;XR_246153;XR_247551;XR_252783 Hs.554059;Hs.736667 ncrna HGNC:51218 VALIDATED 8698694 LINC01510 long intergenic non-protein coding RNA 1510 7 7 q31.2 116210992 116213588 - 116570938 116600934 - 100996266 ABBA01057807;AC002080;AC006159;AMYH02016629;BG189453;BG195638;BG213277;CR745839;DR422469;HG500526;NR_120506;XR_158832;XR_159498;XR_171679;XR_426245;XR_428237;XR_432220 Hs.552122;Hs.607491 ncrna ENSG00000231210 HGNC:51196 VALIDATED 9068628 LINC01521 long intergenic non-protein coding RNA 1521 22 22 22 q12.2 15543236 15543935 + 31742745 31744510 + 31346759 31348524 + 12477932;15461802 54944 ABBA01055327;AC005003;AK000471;AMYH02038235;BC004550;CH471095;CR456348;DA001894;LK937845;NR_120386;XR_158963;XR_159372;XR_172376 BAA91187;CAG30234;EAW59973 Hs.648259 ncrna ENSG00000213888 HGNC:26029 VALIDATED 9068793 LINC01523 long intergenic non-protein coding RNA 1523 20 20 46611970 46613055 + 47983226 47984313 + 101060004 ABBA01052710;AI969358;AL357558;AMYH02037188;BX108395;NR_109942 Hs.129970 ncrna HGNC:51225 VALIDATED 9068686 LINC01524 long intergenic non-protein coding RNA 1524 20 20 51237377 51266965 + 52620838 52650426 + 12477932 101927700 ABBA01052836;ABBA01052837;ABBA01052838;AL049736;AMYH02037283;BC045652;DB461435;HG511440;NR_110038 Hs.434465;Hs.738430 ncrna ENSG00000234948 HGNC:51228 VALIDATED 9479079 LINC01526 long intergenic non-protein coding RNA 1526 6 6 82523003 82523909 - 81813286 81814192 - 25045670 101928770 ABBA01040441;AL078599;AMYH02013992;XR_241867;XR_250026;XR_252044 ncrna ENSG00000224995 HGNC:51265 MODEL 9479089 LINC01529 long intergenic non-protein coding RNA 1529 19 19 19 q13.12 32993970 33002212 - 36279778 36288811 - 35788876 35797909 - 14702039;16344560 644050 ABBA01018765;ABBA01018766;AC002398;AK055260;AMYH02035990;DA464500;HG510694;KC877724;KF456565;KF495832;NR_104176 Hs.651888 ncrna ENSG00000225872 HGNC:51268 VALIDATED 9479406 LINC01535 long intergenic non-protein coding RNA 1535 19 19 q13.12 37742804 37756923 + 37251885 37266021 + 23870195 101927667 ABBA01016183;ABBA01016184;AC016590;AMYH02036033;AMYH02036034;BC041478;BM678244;BX099288;HG510734;HG510735;HG510736;HG510738;HG510739;HY002255;NR_110718;NR_110719;NR_110720;XR_248561;XR_248563;XR_424981;XR_424982;XR_430239;XR_430240;XR_430241;XR_430242;XR_430243;XR_433570;XR_433571;XR_433572;XR_433573;XR_433574 Hs.633102 ncrna HGNC:51282 VALIDATED 9068480 LINC01522 long intergenic non-protein coding RNA 1522 20 20 46606901 46617486 - 47980093 47990117 - 16344560;8889548 101927457 ABBA01052710;AL357558;AMYH02037188;CB240736;DB066225;DB071041;DB088024;HG511405;HY050016;NR_110027 Hs.445823 ncrna HGNC:51224 VALIDATED 9479520 LINC01532 long intergenic non-protein coding RNA 1532 19 19 19 26195425 26206819 + 29493462 29504862 + 29002555 29013955 + 12477932;14702039 100505835 ABBA01039529;ABBA01039530;ABBA01039531;AC011505;AK055100;AMYH02035868;BC039394;HG510598;HG510599;HG510600;NR_040036 Hs.176539 ncrna ENSG00000267014 HGNC:51272 VALIDATED 9586629 LINC01537 long intergenic non-protein coding RNA 1537 11 11 72281636 72284266 + 72570592 72573222 + 25243407 101928555 ABBA01017535;AMYH02025077;AP005019;XR_247262;XR_247705;XR_252932 ncrna ENSG00000227467 HGNC:51301 MODEL 9586474 LINC01538 long intergenic non-protein coding RNA 1538 18 18 18 q22.1 58600474 58647467 - 61880317 61927290 - 64213082 64260055 - 12477932 400654 ABBA01056231;AC100848;AMYH02034889;BC042493;BG722547;HG510101;NR_033983 Hs.434235 ncrna ENSG00000266952 HGNC:51306 VALIDATED 9479357 LINC01534 long intergenic non-protein coding RNA 1534 19 19 q13.12 37176895 37178339 - 36685266 36687466 - 16344560 101927621 ABBA01016198;AC074138;AMYH02036022;BM701845;BQ049787;DA064533;DA195154;HG510723;HG510724;NR_110707;NR_110708;XR_243992;XR_248566;XR_253884 Hs.125653 ncrna HGNC:51281 VALIDATED 9586672 LINC01539 long intergenic non-protein coding RNA 1539 18 18 18 q21.2 50467867 50521986 - 53750587 53804767 - 56083356 56137536 - 14702039 100505474 ABBA01056120;AC006305;AK057336;AK058169;AMYH02034777;HG510034;HG510035;HG510037;HG510038;KF456421;KF456422;NR_040025;NR_040026 Hs.662191 ncrna ENSG00000267712 HGNC:51307 VALIDATED 9479339 LINC01531 long intergenic non-protein coding RNA 1531 19 19 19 q13.12 32612141 32613040 + 35896509 35907742 + 35405607 35416840 + 20379614 100128682 ABBA01018743;ABBA01018744;AC002511;AK128099;AMYH02035984;HG510674;HG510676;HG510677;HG510678;NR_040046 BAC87274 Hs.570008 ncrna ENSG00000205786 HGNC:51270 VALIDATED 9479317 LINC01533 long intergenic non-protein coding RNA 1533 19 19 q13.11 32516768 32530755 + 32025862 32048899 + 14702039 100996665 AA824408;ABBA01039586;AC005547;AC011456;AK097493;AMYH02035913;AMYH02035914;BF511702;BX116841;HG510625;HG510626;HG510627;HG510628;NR_110673;NR_110674;NR_110675;XR_158928;XR_159312;XR_172278 Hs.443685 CTC-360P9.3 ncrna HGNC:51274 VALIDATED 9586485 LINC01543 long intergenic non-protein coding RNA 1543 18 18 p11.21 24002959 24018010 + 26422995 26438046 + 100506787 ABBA01022573;ABBA01022574;AC022069;AI792351;AMYH02034455;HG509868;HY185322;NR_110762;XR_109472;XR_133157;XR_172238 Hs.734746 ncrna HGNC:51310 VALIDATED 9479115 LINC01527 long intergenic non-protein coding RNA 1527 1 1 152902516 152921686 - 152930040 152949210 - 25045670 101927988 ABBA01049428;ABBA01049429;AL356867;AMYH02001897;XR_241125;XR_248619;XR_250878 ncrna ENSG00000224308 HGNC:51266 MODEL 9479140 LINC01530 long intergenic non-protein coding RNA 1530 19 19 19 q13.41 49146097 49148694 - 52095036 52097633 - 51591783 51594380 - 14702039;16344560 729975 ABBA01068268;AC018755;AK054965;AMYH02036385;CA867516;CH471135;DA060240;DB478715;NR_034159 BAB70834;EAW72031 Hs.716785 ncrna HGNC:44320 VALIDATED 9586561 LINC01540 long intergenic non-protein coding RNA 1540 18 18 18 3345906 3358571 + 3466248 3478976 + 3466250 3478978 + 24324551 100505592 ABBA01049851;AJ707365;AMYH02034226;AP001025;BM782281;BX107736;HG509659;HG509660;NR_110428;NR_110429;XR_109463;XR_111761;XR_172233;XR_243821;XR_248438;XR_253756;XR_424888;XR_430051;XR_433453 Hs.635114 GAPLINC ncrna ENSG00000266835 HGNC:51308 VALIDATED 9586396 LINC01541 long intergenic non-protein coding RNA 1541 18 18 69187200 69246192 - 71519964 71578956 - 14702039;15231747 100505776 ABBA01056305;AC019240;AC090312;AK093976;AMYH02034961;BX648957;HG510126;HG510127;NR_038325;NR_038326 Hs.202072 ncrna ENSG00000260676 HGNC:51309 VALIDATED 9586460 LINC01544 long intergenic non-protein coding RNA 1544 18 18 59415409 59421928 + 61748176 61754695 + 14702039 100996669 ABBA01056188;AC105094;AK054836;AK091955;AMYH02034862;HG510087;NR_103449 Hs.586981 ncrna HGNC:51312 VALIDATED 5686938 LINC01545 long intergenic non-protein coding RNA 1545 X X p11.3 46746852 46759139 - 46887417 46899704 - 12477932;15772651 724087 Q5VT33 ABBA01052273;ABBA01052274;ABBA01052275;AL627143;AMYH02039264;BC038573;LN608985;NR_046101 Q5VT33 Hs.679235 1702628 DXS1146 CXorf31 APPROVED ncrna ENSG00000204904 HGNC:17986 VALIDATED 1351457 LINC01547 long intergenic non-protein coding RNA 1547 FOUND IN endoplasmic reticulum; INTERACTS WITH all-trans-retinoic acid; amiodarone; diazinon 21 21 21 q22.3 31459702 31466331 - 46353199 46359828 - 44933284 44939913 - 6480464 11707072;12477932;15489334;16780588;8889548 84536 P58512 ABBA01074179;AF380178;AL844908;AMYH02037921;AY035381;AY040088;BC101235;BC101236;BC101237;BC101238;BC128244;BC128245;BI829356;BI907880;BM674075;CH471079;LN608885;LN608886;NR_027128;NR_027129 AAK60445;AAK74136;AAL34496;EAX09373;EAX09375;P58512 Hs.534504 5493543 UniSTS:487137 C21orf67;C21orf69;MGC120186;MGC120187;MGC120188;MGC120189;MGC149386;MGC149387;PRED54 APPROVED ncrna ENSG00000183250 HGNC:15707 10762 VALIDATED 1345304 LINC01549 long intergenic non-protein coding RNA 1549 INTERACTS WITH valproic acid 21 21 q21.1 18811208 18821503 + 17438890 17449185 + 6480464 10830953;11181995;12477932 100505929;54076 A6NIU2 ABBA01057115;ABBA01057116;AI420675;AMYH02037557;AP000952;BC130500;BC130504;BC144390;BC144391;BX089409;CH471079;LN608865;N47348;N56968;NM_001005521;NR_037585;NR_037586 A6NIU2;AAI44392;EAX10035 Hs.46707 1681861 RH46019 C21orf37 APPROVED ncrna ENSG00000232560 HGNC:1277 VALIDATED 1353623 LINC01550 long intergenic non-protein coding RNA 1550 14 14 14 q32.2 78447769 78500269 - 98391947 98444461 - 97925610 97978124 - 12477932;14702039;23612905 388011 H0YJ13;H0YJ23;H0YJ28;H0YJB0;H0YJM9;H0YJQ2 ABBA01048576;AK091668;AK097943;AL352981;AMYH02029818;BC043585;BX647564;JX073283;KF456003;LN608549;NR_015430 Hs.651477 1771118;5014051;5015619;5022578;5022649;5037552 D11S2875;D11S3114;D14S138;D1S1423;D8S2278;D8S2279 C14orf64 APPROVED ncrna ENSG00000246223 HGNC:20111 PREDICTED 1349584 LINC01548 long intergenic non-protein coding RNA 1548 21 21 21 q22.11 19723776 19728541 - 34537776 34542541 - 33165470 33170236 - 10830953;11181995;12477932;22228203 728409 A6NM66 ABBA01057326;AMYH02037730;AP000290;BC105115;BC105117;BX116511;CH471079;KF511398;LN608874;NR_024102 A6NM66;EAX09847 Hs.125234 1808730;1823048;1826770;1839716;1841808;1842190;1845260;2026248;2026250;2026252;2026254;2026256;2026258;2026260;2026262;2026264;2026266;2026268;2026270;2026272;2026274;2026276;2026278;2026280;2026282;2026284;2026286;2026288;2026290;2026292;2026294;2026296;2026298;2026300;2026302;2026304;2026306;2026308;2026310;2100878;2100880;2100882;2100884;2100886 ECD05347;ECD12612;ECD14499;ECD21041;ECD22103;ECD22298;ECD23847;REN84124;REN84125;REN84126;REN84127;REN84128;REN84129;REN84130;REN84131;REN84132;REN84133;REN84134;REN84135;REN84136;REN84137;REN84138;REN84139;REN84140;REN84141;REN84142;REN84143;REN84144;REN84145;REN84146;REN84147;REN84148;REN84149;REN84150;REN84151;REN84152;REN84153;REN84154;REN84155;stSG606970;stSG606971;stSG606972;stSG606973;stSG606974 C21orf54 APPROVED ncrna ENSG00000229086 HGNC:1296 VALIDATED 2303887 LINC01554 long intergenic non-protein coding RNA 1554 INTERACTS WITH (+)-catechin; atrazine; benzo[a]pyrene 5 5 5 q15 91066688 91074592 + 95187936 95195837 + 95852232 95860133 + 6480464 12477932;14702039 202299 Q52M75 ABBA01069245;AC008592;AK096140;AK314737;AMYH02011822;AW206457;AY168789;BC093643;BC101577;CH471084;LN608055;LN608056;NR_026936 AAO25675;BAG37278;EAW96058;EAW96059;Q52M75 Hs.8373 1767463;2107099 A004D35;FIS__6724 C5orf27;FIS;FLJ38821;MGC126626 APPROVED ncrna ENSG00000236882 HGNC:24687 16896 VALIDATED 1641969 LINC01555 long intergenic non-protein coding RNA 1555 INTERACTS WITH aflatoxin B1 1 1 1 p22.3 83337809 83344598 - 85093913 85100703 - 84628230 84635020 - 6480464 12477932;14702039 439927 Q8NAE3 ABBA01045652;AC114482;AK092806;AMYH02001378;BC137361;BC137362;BC144607;BC171792;CH471097;LN607867;NR_027379 BAC03979;EAW73229;Q8NAE3 Hs.407054 C1orf180;FLJ35487;MGC168982;MGC168983 APPROVED ncrna ENSG00000180869 HGNC:26647 08182 VALIDATED 1346936 LINC01558 long intergenic non-protein coding RNA 1558 6 6 6 q27 168902229 168914578 - 168185217 168197539 - 167784537 167796859 - 10382971;12477932;15489334 26238 Q9Y6Z2 AB016901;ABBA01000417;AL009178;AL732359;AMYH02014984;BC027853;CH471051;LN608122;LN608123;NR_026773 BAA78636;EAW47488;EAW47489;Q9Y6Z2 Hs.520583 1336670;5016478;5024039;5037552 D16S325;D6S503;D8S2279;GDB:434012 C6orf123;HGC6.2;LINC01557;RP3-431P23.4;dJ431P23.4 APPROVED ncrna ENSG00000146521 HGNC:21235 12846 PREDICTED 5133612 LINC01546 long intergenic non-protein coding RNA 1546 X X X p22.33 7470034 7482862 + 3189861 3202694 + 3271820 3284653 + 100129464 A6NGU7 AA662138;ABBA01038671;ABBA01038672;ABBA01038673;ABBA01038674;ABBA01038675;AC004616;AC079172;AI417893;AMYH02038724;AW974771;AW974776;BX101503;CH471074;LN608976;NG_029783;NR_038428 A6NGU7;EAW98723 Hs.187816 1662460;1678353;1732619;1733558;2179461 DXS2497;DXS6773;DXS7099;RH98669;Z94290 CXorf28 APPROVED ncrna ENSG00000228459 HGNC:27336 VALIDATED 1347042 LINC01553 long intergenic non-protein coding RNA 1553 10 10 10 q21.2 54983535 54986224 - 61715188 61720671 - 59958217 59960913 - 737633 12477932 283025 A4QN01 ABBA01019457;AC023904;AMYH02023173;BC038741;BC048976;BC119749;BC119750;BC126326;BC130402;CR933684;NR_024340 A4QN01 Hs.522955 1677782;5493701 RH98450;UniSTS:490443 C10orf40 APPROVED ncrna ENSG00000235931 HGNC:23524 VALIDATED 1350751 LINC01560 long intergenic non-protein coding RNA 1560 INTERACTS WITH paracetamol; valproic acid X X p11.23 51537339 51538554 + 47333966 47343288 + 737633;6480464 12477932 203414 Q8TB33 AL590283;BC025179;CA427930;DA866999;DB481712;HY147632;NG_008238;NR_126059;XR_110617;XR_113303;XR_172402;Z84466 AAH25179;Q8TB33 Hs.597617 APPROVED ncrna HGNC:27333 VALIDATED 1606927 LINC01559 long intergenic non-protein coding RNA 1559 ASSOCIATED WITH Melanoma (inferred) 12 12 12 p13.1 18672658 18678732 - 13523605 13540101 - 13370671 13376745 - 8554872 12477932;14702039;15489334;23377640;8889548 283422 F5GXY3;F5H3P8;Q495D7 ABBA01067858;AC022276;AK091129;AK307179;AMYH02026070;BC101220;BC101222;BC101223;BG421494;BU676022;CH471094;LN608427;NR_036555 AAI01221;AAI01223;AAI01224;BAC03590;EAW96307;Q495D7 Hs.448717 1782626;2179959 RH48049;SHGC-145169 C12orf36;FLJ33810;FLJ97127;MGC120140 putative uncharacterized protein C12orf36 APPROVED ncrna ENSG00000180861 HGNC:26598 08166 VALIDATED 1351499 LINC01552 long intergenic non-protein coding RNA 1552 10 10 10 p12.2 23180340 23200325 - 23492745 23528721 - 23203816 23239792 - 15164054;8889548 387642 Q5QP74 ABBA01034469;AL139281;AMYH02022445;BM976076;CH471072;LN608326;NR_103721 EAW86130;Q5QP74 Hs.132442 1731357 D10S410 C10orf115;bA215C7.4 APPROVED ncrna ENSG00000204566 HGNC:31449 PREDICTED 1352241 LINC01551 long intergenic non-protein coding RNA 1551 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (+)-catechin; valproic acid 14 14 14 q12 9107404 9129488 + 29241910 29264000 + 28772704 28794794 + 6480464;8554872 16341674;20802204 387978 F8VQW4;F8VZL1;Q86U37 ABBA01061377;AI204146;AL049777;AMYH02028917;BM839073;BX111279;BX248251;LN608498;LN608499;NR_026731;NR_026732 CAD62579;Q86U37 Hs.633254 1334576;1736448;2133081;2140526;2144955;5014051;5015619;5037552;5093298 A004D23;A009L03;D11S3114;D14S1042;D14S709E;D14S835;D8S2278;D8S2279;G32636 C14orf23;c14_5148 APPROVED ncrna ENSG00000186960 HGNC:19828 PREDICTED 1351960 LINC01556 long intergenic non-protein coding RNA 1556 6 6 6 p22.1 30517316 30518425 + 28911561 28912315 + 28943784 28944538 + 19851445 729583 Q5JQF7 ABBA01038029;AL662865;AL662871;AL954865;AMYH02013403;BX118328;BX248109;BX927167;CR936883;NR_103538;R07702;Z84476 CAC69878;Q5JQF7 Hs.453549 2128410;2186434 RH46736;WI-17133 dJ25J6.5 APPROVED ncrna HGNC:21195 PREDICTED 1318574 LINGO1 leucine rich repeat and Ig domain containing 1 ENCODES a protein that exhibits epidermal growth factor receptor binding (inferred); INVOLVED IN central nervous system neuron development (inferred); negative regulation of axonogenesis (inferred); negative regulation of oligodendrocyte differentiation (inferred); ASSOCIATED WITH Glaucoma; FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid; tunicamycin 15 15 15 q24.3 54843608 54862572 - 77905369 77988490 - 77613027 77819429 - 6480464;8655601 19422885 12477932;12975309;14686891;14702039;14966521;15694322;16169070;16189514;17005555;17239012;17726113;19182806;19254717;19363035;19553813;19720553;19805735;19908305;20117178;20310002;20369371;20372186;20468067;20600614;20659559;20951767;20957646;21158743;21219542;21264305;21506150;21741293;21752692;21955595;22133804;22216198;22425540;22514275;22710005;23482566;23574883;23682623;23754655 84894 H0YMX3;H0YNK7;H3BM59;H3BMN3;H3BMW2;H3BN48;H3BQ49;H3BS32;Q96FE5 ABBA01060570;ABBA01060571;AC046168;AC105133;AC110607;AK027500;AK291363;AL109677;AL834260;AMYH02030853;AMYH02030854;AMYH02030855;AY324320;AY324322;AY324323;AY358284;BC011057;BC068558;BI523562;BI669707;BI825536;BX355455;CH471136;DA150164;DA182630;DA183673;DA232085;DA328735;DA410114;DA483616;DA494936;DA525603;DA787289;DB165168;H11343;HY342106;NM_001301186;NM_001301187;NM_001301189;NM_001301191;NM_001301192;NM_001301194;NM_001301195;NM_001301197;NM_001301198;NM_001301199;NM_001301200;NM_032808;XM_006720723 AAH11057;AAH68558;AAQ88651;AAQ97216;AAQ97217;AAQ97218;BAB55157;BAF84052;CAD38935;EAW99195;EAW99196;EAW99197;EAW99198;NP_001288115;NP_001288116;NP_001288118;NP_001288120;NP_001288121;NP_001288123;NP_001288124;NP_001288126;NP_001288127;NP_001288128;NP_001288129;NP_116197;Q96FE5;XP_006720786 Hs.656765;Hs.745412 1643935;1721627;1762601;5096125 G59824;SHGC-146402;STS-H11343;WI-21778 FLJ14594;LERN1;LRRN6A;MGC17422;UNQ201 leucine rich repeat neuronal 6A;leucine-rich repeat and immunoglobilin domain-containing protein 1;leucine-rich repeat and immunoglobulin domain-containing protein 1;leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1;leucine-rich repeat neuronal 6A;leucine-rich repeat neuronal protein 1;leucine-rich repeat neuronal protein 6A protein-coding ENSG00000169783 HGNC:21205 14322 609791 VALIDATED 1354064 LINGO3 leucine rich repeat and Ig domain containing 3 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzene-1,2,4-triol; furan (ortholog) 19 19 19 p13.3 2223699 2242250 - 2289774 2308156 - 2289775 2308157 - 11181995;14686891;14702039 353297;645191 P0C6S8 ABBA01002718;AC004152;AC005258;AC104530;AK091795;AMYH02035189;CH471139;CS083241;NM_001101391 CAI96007;EAW69391;NP_001094861;P0C6S8 Hs.371587 LERN2;LRRN6B hCG2040376;leucine rich repeat neuronal 6B;leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3;leucine-rich repeat neuronal protein 2;leucine-rich repeat neuronal protein 6B APPROVED protein-coding HGNC:21206 609792 PROVISIONAL 1352545 LINC01561 long intergenic non-protein coding RNA 1561 10 10 10 q26.12 116089026 116090943 + 122357461 122359635 + 120597949 120600123 + 12477932;14702039;15489334 404216 Q8N1V8 ABBA01062874;AC023282;AK094721;AMYH02023925;AW013915;BC108662;NR_103717 AAI08663;BAC04408;Q8N1V8 Hs.196578 FLJ37402;MGC131689 APPROVED ncrna ENSG00000177234 HGNC:31365 18530 PREDICTED 1606911 LINGO4 leucine rich repeat and Ig domain containing 4 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog) 1 1 1 q21.3 124887448 124892565 - 151772765 151777882 - 151800289 151805406 - 6480464 12477932;12975309;22104011 339398 Q6UY18 ABBA01049405;AL589765;AMYH02001889;AY358115;BC137220;BC137221;NM_001004432 AAI37221;AAI37222;AAQ88482;NP_001004432;Q6UY18 Hs.591477 1858000;2169416 RH16275;SHGC-34816 DAAT9248;LRRN6D;PRO34002 OTTHUMP00000015256;leucine rich repeat neuronal 6D;leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4;leucine-rich repeat neuronal protein 6D protein-coding HGNC:31814 17453 609794 PROVISIONAL 1344562 LINGO2 leucine rich repeat and Ig domain containing 2 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; methamphetamine 9 9 9 p21.2 27876621 28649863 - 27948084 29212998 - 27948086 29213000 - 6480464;8554872 12477932;12975309;14686891;14702039;16344560;19240061;20200978;20369371;20379614;20694011;20935630;21287203;21832049;22123311;23251661;23382691;23563607;24096698;24390345 158038 Q7L985 ABBA01065116;ABBA01065117;ABBA01065118;ABBA01065119;ABBA01065120;ABBA01065121;ABBA01065122;ABBA01065123;ABBA01065124;ABBA01065125;AK056372;AK172834;AK290972;AL158072;AL162388;AL353683;AL353746;AL354758;AL360180;AL445526;AL450428;AL451124;AL592206;AL596323;AMYH02019360;AMYH02019361;AMYH02019362;AMYH02019363;AMYH02019364;AMYH02019365;AMYH02019366;AMYH02019367;AMYH02019368;AMYH02019369;AMYH02019370;AMYH02019371;AMYH02019372;AMYH02019373;AMYH02019374;AMYH02019375;AY358114;BC137514;BC144676;CH471071;CS161398;DA531255;DN991981;NM_001258282;NM_152570;XM_005251372 AAI37515;AAI44677;AAQ88481;BAB71167;BAD18799;BAF83661;CAJ30882;EAW58557;NP_001245211;NP_689783;Q7L985;XP_005251429 Hs.662661;Hs.745029 1336892;1337889;1341110;1645017;1648871;1676432;1704042;1705928;1706256;1712639;1713673;1714559;1724603;1733206;1733784;1752161;1755629;1763187;1765699;1766233;1766827;1787104;1787106;1787188;1788612;2077444;2116956;2123108;2167861;5093044;5120423;7186346 A009E40;BB396479;D9S1678;D9S1736;D9S1875;D9S2025;D9S270;D9S746;D9S963;G15827;G32487;GDB:315517;REN109927;RH119793;RH120170;RH120719;RH121299;RH15970;RH98626;SHGC-106062;SHGC-142482;SHGC-146914;SHGC-149139;SHGC-149594;SHGC-152204;SHGC-155133;SHGC-155134;SHGC-77846;SHGC-78093;SHGC-80671;SHGC-83752 FLJ31810;LERN3;LRRN6C OTTHUMP00000021174;leucine rich repeat neuronal 6C;leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2;leucine-rich repeat neuronal protein 3;leucine-rich repeat neuronal protein 6C protein-coding ENSG00000174482 HGNC:21207 08715 609793 VALIDATED 1345320 LIPB lipase B, lysosomal acid 6937431 3989 HGNC:6618 247980 7244779 LIPE-AS1 LIPE antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 19 19 42901300 43156507 + 42397148 42652355 + 8554872 14702039;8889548 100996307 ABBA01040847;ABBA01040848;ABBA01040849;ABBA01040850;ABBA01040851;ABBA01040852;ABBA01040853;ABBA01040854;AC004558;AC004559;AC004785;AC011497;AC093030;AC104105;AK096849;AK311181;AMYH02036150;AMYH02036151;AMYH02036152;AMYH02036153;AMYH02036154;AMYH02036155;AMYH02036156;BM974950;CH471126;DW455857;HG510833;KF456583;KF456585;KF456587;NR_073179;NR_073180 BAC04875;EAW57136 Hs.466840;Hs.567935;Hs.624933 ncrna ENSG00000213904 HGNC:48589 VALIDATED 736562 LIPA lipase A, lysosomal acid, cholesterol esterase This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014] 10 10 10 q23.2-q23.3 84720143 84758472 - 90973326 91011660 - 89213569 89252039 - 1600620;1600621;1300048;1580863;6480464;7240710;8554872;8699517 6097111;8146180 12162818;12477932;14702039;15164054;15465627;15489334;16013913;16024911;16131527;16344560;16385451;16730122;16806233;1718995;17207965;18796546;18996102;19307143;19322201;19343046;19913121;20237496;20379614;20602615;20628086;21378988;21606135;21890473;21900179;21963785;22227072;22395809;22795295;23164340;23424026;23624251;23652569;24069331;24122380;24250222;7759067;8112342;8125298;8254026;8432549;8725147;8956047;9633819;9705237 3988 P38571;Q5T073;Q5T770 ABBA01021949;AK091558;AK096406;AK125193;AK130882;AK222760;AK290241;AK293491;AK297079;AK314665;AL353751;AL513533;AMYH02023510;AU135835;BC012287;CA435432;CH471066;DA275550;DA394611;DA466221;HY150944;M74775;NG_008194;NM_000235;NM_001127605;NM_001288979;NR_110233;S68069;U04285;U08464;X76488;Z31690 AAA59519;AAB29185;AAB60327;AAB60328;AAH12287;ADQ31728;BAC86078;BAD96480;BAF82930;BAG37222;BAG52380;BAG53281;BAG56978;BAG59596;CAA54026;CAA83495;EAW50140;EAW50141;EAW50142;NP_000226;NP_001121077;NP_001275908;P38571 Hs.643030 1680651;1743183;1770159;1797826;2114781;2132844;2151122 GDB:289781;LIPA_898.2;RH80870;STS-H84912;STS-M74775;WI-18437;WI-18793 CESD;LAL OTTHUMP00000020066;OTTHUMP00000020067;OTTHUMP00000020068;OTTHUMP00000020069;acid cholesteryl ester hydrolase;cholesterol ester hydrolase;cholesteryl esterase;lipase A, lysosomal acid, cholesterol esterase (Wolman disease);lysosomal acid lipase;lysosomal acid lipase/cholesteryl ester hydrolase;sterol esterase APPROVED protein-coding ENSG00000107798 HGNC:6617 02044 278000;613497 REVIEWED 1343616 LIPF lipase, gastric This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 10 10 10 q23.31 84170927 84185402 + 90424146 90438572 + 88664389 88678815 + 1580863;6480464 10092305;10208872;10358049;10411623;10700046;11099794;11241664;11940604;12477932;12941646;15342556;15489334;16341674;16344560;16385451;17255364;18681781;18996102;19913121;20043075;20602615;20628086;20885390;20965171;21163940;21945702;2753032;3181673;3304425;8049245;8125298;8359655;9186906;9323599;9468252 8513 P07098 A01046;A12714;ABBA01021954;AK223468;AK301310;AK301320;AK308224;AK310128;AK312940;AL358532;AL833751;AMYH02023503;AMYH02023504;AY631869;BC112272;BC113711;BM797485;BP341513;CH471066;DA967766;NM_001198828;NM_001198829;NM_001198830;NM_004190;X05997 AAI12273;AAI13712;AAT38115;ADR83149;BAD97188;BAG35782;BAH13457;BAH13459;CAA00125;CAA01053;CAA29413;CAA29414;CAH56244;EAW50161;EAW50162;EAW50163;NP_001185757;NP_001185758;NP_001185759;NP_004181;P07098 Hs.523130 1646309;1857960;1858289;2217560 D10S1411;LIPF_3021;STS-X05997;WI-16578 GL;HGL;HLAL;MGC138477;MGC142271 OTTHUMP00000020038;OTTHUMP00000020039;gastric lipase;gastric triacylglycerol lipase APPROVED protein-coding ENSG00000182333 HGNC:6622 09063 601980 REVIEWED 1602699 LINS lines homolog (Drosophila) The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. [provided by RefSeq, Sep 2010] 15 15 15 q26.3 77522681 77555652 - 101109428 101142445 - 100569223 100602240 - 6480464;8699517;8554872 12119551;12477932;14702039;16344560;19322201;20379614;21906983;23773660;23898208;24250222;8889548 55180 H0YKU3;H0YM78;H0YMK4;H0YMQ0;H3BNM9;H3BNS6;Q8NG48;S4R3B7 AB083157;ABBA01020536;AC027020;AC090695;AI301298;AK001445;AK093868;AK095448;AK292972;AK298946;AMYH02031161;AMYH02031162;BC010363;BI910880;BM723636;CH471101;DA447859;DA674923;DA705707;DA880742;DA958361;NG_034076;NM_001040616;XM_005254941;XM_005254943;XR_243210;XR_429462;XR_429463;XR_429464 BAA91696;BAB93864;BAF85661;BAG61045;EAX02270;EAX02271;EAX02272;EAX02273;NP_001035706;Q8NG48;XP_005254998;XP_005255000 Hs.105633 1659654;1772911;2110803 A008Z41;RH78741;WINS1__4907 FLJ10583;LINS1;MRT27;WINS1 OTTHUMP00000194815;WINS1 protein with Drosophila Lines (Lin) homologous domain;lines homolog 1;protein Lines homolog;wnt-signaling molecule Lines homolog 1 APPROVED protein-coding HGNC:30922 17280 610350 REVIEWED 1321819 LIPG lipase, endothelial The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008] 18 18 18 q21.1 43943480 43974820 + 47087069 47119278 + 49560699 49592908 + 1580864;1580865;1581874;1581875;1580863;1641818;1601237;1641819;6480464;8554872 15304490;15914124;16023652;16354105;16772345;17016617;17526978 10192396;10318835;12032167;12164779;12477932;12569156;12601178;12867537;12884003;12966036;12975309;14499622;14517167;14667806;15117821;15231747;15342690;15485805;15576837;15961789;16039280;16335952;16877778;16940551;16980590;17093291;17207965;17322565;17356047;17495604;17545692;17570372;17644777;17651673;17700364;17822686;17986713;18039650;18193043;18193044;18683147;18988890;18996102;19060906;19060911;19136670;19148283;19287092;19380136;19411665;19411705;19567873;19578796;19780863;19878569;19913121;19936222;19948975;20031538;20045866;20167577;20370913;20394740;20466371;20571754;20602615;20621031;20628086;20679960;20686565;20688330;20691829;20855565;20864672;20923576;20972250;21122200;21130993;21145773;21816559;21852675;21957202;22174694;22286219;22464213;22723003;22740344;22952570;22972429;23075452;23102786;23243195;23251661;23510199;23666239;23673478;23991054;24097068;24115033;24458708 9388 B4DTR8;J3KTN7;J3QQQ0;Q9Y5X9 ABBA01018655;ABBA01018656;ABBA01018657;AC091170;AF118767;AI861822;AK124636;AK125344;AK291799;AK300333;AK315252;AMYH02034697;AY358928;BC060825;CH471096;EU332856;NM_006033;XM_005258390 AAD30434;AAH60825;AAQ89287;ABY87545;ADQ32526;BAF84488;BAG37674;BAG62080;EAW62947;EAW62948;EAW62949;NP_006024;Q9Y5X9;XP_005258447 Hs.465102 1792490;1796252;2170107 D18S1238;LIPG_900;PMC151857P1 EDL;EL;PRO719 endothelial cell-derived lipase;endothelial lipase;lipoprotein lipase H APPROVED protein-coding HGNC:6623 04730 603684 REVIEWED 1605865 LIPI lipase, member I The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. The encoded protein, which can be inhibited by sodium vanadate, may be found exclusively in sperm. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. [provided by RefSeq, Jun 2010] 21 21 21 q11.2 638370 736505 - 15480784 15583361 - 14108463 14211040 - 1625450;6480464;7240710;8554872 12719377 10830953;12963729;15548687;21132378 149998 H0Y3S0;Q5D1Q2;Q6XZB0 ABBA01057083;AC006556;AC246819;AF130358;AL078615;AL160451;AP001347;AP001660;AY197607;AY918476;JN387910;JN387911;JN387912;JN387913;JN387914;JN387915;JN387916;KC877767;KC877770;NG_021434;NM_198996;XM_005260920;XM_005260921;XM_005260922;XM_005260924;XM_006723965;XM_006723966 AAI40337;AAI48692;AAP37476;AAX14040;AEL12688;AEL12689;AEL12690;AEL12691;AEL12692;AEL12693;AEL12694;NP_945347;Q6XZB0;XP_005260977;XP_005260978;XP_005260979;XP_005260981;XP_006724028;XP_006724029 Hs.139907 1689185;1740699;1787586;5124563 D14S1263;RH91932;RH92170;SHGC-155914 CT17;LPDL;PLA1C;PRED5 LPD lipase;OTTHUMP00000082969;cancer/testis antigen 17;lipase member I;mPA-PLA1 beta;membrane-associated phosphatidic acid-selective phospholipase A1-beta;membrane-associated phospholipase A1 beta;membrane-associated phospholipase A1 beta 7B+;membrane-associated phospholipase A1 beta deltaE2-3;membrane-associated phospholipase A1 beta deltaE5;membrane-associated phospholipase A1 beta deltaE6.1;membrane-associated phospholipase A1 beta deltaE7.2;membrane-associated phospholipase A1 beta deltaE8-9;membrane-associated phospholipase A1 beta fl APPROVED protein-coding ENSG00000188992 HGNC:18821 14193 145750;609252 REVIEWED 737132 LIPE lipase, hormone-sensitive The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 39706455 39732367 - 42905664 42931578 - 42401507 42427426 - 1625026;1581867;1580863;1300048;2313581;2313584;2313580;2313583;6480464;6907045;8699517 10729384;11016888;15609025;17318300;17712951;18413675 10318917;10445032;10694408;11026666;11063252;11574428;11581251;11731226;11791141;11812735;11846402;11850754;11979403;12364542;12477932;12514936;12518034;12534454;12562895;12701046;12727985;12730334;12765952;12832420;12864745;12925534;12970365;14641008;14745722;14984467;15231718;15260473;15308678;15345679;15456755;15489334;15627655;15654127;15697220;15871848;16169070;16243839;16328496;16534522;16690773;16752181;16822962;16906479;16940551;17026959;17074755;17327373;17356053;17587400;18249203;18383440;18398140;18660489;18820256;18824087;18996102;19018281;19164092;19336475;19369647;19433586;19491387;19695247;19913121;20017959;20495294;20628086;20734064;20855565;20926921;21081692;21241784;21498783;21543206;21680814;21826994;21906983;21919688;21933124;22553833;23688034;24848981;3420405;7698015;8506334;8812477;9417067 3991 A8K8W7;M0QXB1;M0QXM5;M0QY29;M0QYP8;M0R201;M0R2G1;Q05469 ABBA01040847;AC011497;AK292482;AMYH02036150;BC029301;BC029961;BC070041;CH471126;DQ188033;L11706;NG_034246;NM_005357;U40002;XM_005258937;XM_005258938;XM_005258939;XM_005258940;XM_005258941;XM_006723218 AAA69810;AAC50666;AAH70041;ABA03168;BAF85171;EAW57135;NP_005348;Q05469;XP_005258994;XP_005258995;XP_005258996;XP_005258997;XP_005258998;XP_006723281 Hs.656980 1673263;1683757;1790275;2115152;2131991;5094912 G15903;LIPE;LIPEHSP92I;RH78664;RH79209;RH98494 AOMS4;HSL;LHS hormone-sensitive lipase;hormone-sensitive lipase testicular isoform;lipase, hormone sensitive APPROVED protein-coding ENSG00000079435 HGNC:6621 01062 151750;615980 REVIEWED 1320217 LIPK lipase, family member K ENCODES a protein that exhibits hydrolase activity, acting on ester bonds (inferred); INVOLVED IN lipid catabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2-butoxyethanol (ortholog) 10 10 10 q23.31 84231123 84259400 + 90484301 90512513 + 88724544 88752756 + 6480464;8554872 17562024 643414 Q5VXJ0 ABBA01021953;AL358532;AMYH02023504;EF426482;NM_001080518 AAI52925;ABR08387;NP_001073987;Q5VXJ0 Hs.632092 LIPL2;bA186O14.2 OTTHUMP00000020036;lipase K;lipase member K;lipase-like abhydrolase domain-containing protein 2;lipase-like, ab-hydrolase domain containing 2 protein-coding ENSG00000204021 HGNC:23444 613922 PROVISIONAL 1320902 LIPH lipase, member H This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008] 3 3 3 q27 183671086 183716608 - 185225570 185270369 - 185507782 185552588 - 1580863;6480464;7240710;8699517;8554872 12063250;12213196;12477932;12719377;12963729;14702039;15489334;15520410;17095700;17207965;17333281;18445047;18795930;18820939;18830268;19167195;19262606;19536142;19766349;19892526;20107739;20213768;21352330;21426374;21857648;21906983;22125978;22475755;23066499;23550552;23590372;24380866 200879 A2IBA6;F8WE09;H7BZL3;H7C2X1;Q8WWY8 ABBA01058419;AC099661;AK074229;AK122651;AK298380;AMYH02008326;AY036912;AY093498;BC064941;BI965988;CH471052;EF186228;EF186229;NG_012183;NM_139248;XM_006713529;XM_006713530 AAH64941;AAK63178;AAM18803;ABM67094;ABM67095;ADQ32559;BAB85023;BAG53642;BAG60616;EAW78218;NP_640341;Q8WWY8;XP_006713592;XP_006713593 Hs.68864 1339999;1340035;1341231 D3S1602;D3S2314;D3S3592 AH;ARWH2;HYPT7;LAH2;LPDLR;PLA1B;mPA-PLA1 LPD lipase-related protein;OTTHUMP00000210343;OTTHUMP00000210344;lipase H;lipase member H;mPA-PLA1 alpha;membrane-associated phosphatidic acid-selective phospholipase A1-alpha;membrane-bound phosphatidic acid-selective phospholipase A1;phospholipase A1 member B APPROVED protein-coding ENSG00000163898 HGNC:18483 07392 125853;604379;607365;612797;614025 REVIEWED 1603579 LIPJ lipase, family member J ENCODES a protein that exhibits hydrolase activity, acting on ester bonds (inferred); INVOLVED IN lipid catabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2-butoxyethanol (ortholog) 10 10 10 q23.31 84093334 84113548 + 90346519 90366733 + 88583277 88606976 + 6480464;8554872 12477932 142910 H0YDS3;Q5W064 ABBA01021955;AL139406;AMYH02023503;BC031219;BC042900;CH471066;NM_001010939;XM_005269542;XM_006717635 AAH31219;EAW50165;EAW50166;NP_001010939;Q5W064;XP_005269599;XP_006717698 Hs.440959 FLJ11218;LIPL1;bA425M17.2 OTTHUMP00000020033;lipase J;lipase member J;lipase-like abhydrolase domain-containing protein 1;lipase-like, ab-hydrolase domain containing 1 protein-coding ENSG00000204022 HGNC:21773 17281 613921 VALIDATED 4889222 LIPT1P1 lipoyltransferase 1 pseudogene 1 13 13 13 q33.1 83497261 83498427 + 102654480 102655646 + 102002130 102003296 + 100131188 ABBA01027078;AL512629;AMYH02028623;NG_008317;NG_021973 pseudo HGNC:39278 INFERRED 1312623 LIPM lipase, family member M ENCODES a protein that exhibits hydrolase activity, acting on ester bonds (inferred); INVOLVED IN lipid catabolic process (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2-butoxyethanol (ortholog) 10 10 10 q23.31 84309321 84327123 + 90562487 90580315 + 88802730 88820546 + 6480464 12477932;17562024 340654 Q5VYY2 ABBA01021953;AL353113;AL358532;AMYH02023504;AX521798;BC157888;BC171908;EF426484;NM_001128215;XM_005269764 AAI57889;AAI71908;ABR08389;CAD52970;NP_001121687;Q5VYY2;XP_005269821 Hs.55118 1711022;1717365;2130296 RH122173;SHGC-57024;SHGC-84891 LIPL3;bA304I5.1 OTTHUMP00000020040;lipase M;lipase member M;lipase-like abhydrolase domain-containing protein 3;lipase-like, ab-hydrolase domain containing 3 protein-coding ENSG00000173239 HGNC:23455 613923 VALIDATED 1349924 LIPN lipase, family member N The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011] 10 10 10 q23.31 84268049 84284832 + 90519786 90538648 + 88760029 88778891 + 6480464;8699517;7240710;8554872 17562024;20301593;21439540 643418 Q5VXI9 ABBA01021953;AL358532;AMYH02023504;EF426483;NG_031911;NM_001102469;XM_005270049;XM_006717946 ABR08388;NP_001095939;Q5VXI9;XP_005270106;XP_006718009 Hs.632091 ARCI8;LI4;LIPL4;bA186O14.3 OTTHUMP00000020037;lipase N;lipase member N;lipase-like abhydrolase domain-containing protein 4;lipase-like, ab-hydrolase domain containing 4 APPROVED protein-coding ENSG00000204020 HGNC:23452 613924;613943 REVIEWED 736877 LIPC lipase, hepatic LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008] 15 15 15 q21-q23 35612421 35749365 + 58702953 58861073 + 58410754 58568874 + 1580512;1580513;1600654;1600644;1600664;1600663;1331525;1300048;1580863;2308800;2308783;2308785;2308786;2308789;2308790;2308792;2308794;2308828;2308849;2308796;2308845;2308793;2308844;2308823;2308846;2308788;2308797;2308824;2308835;2308826;2308829;2308830;2308841;2307432;2308781;1581787;2308784;2308798;2308799;2308822;2308839;2308850;2308836;2308834;2308840;6480464;7240710;8699517;8554872 10600655;10844597;11095452;11279518;11395034;11427226;11544558;11916946;12642787;12689525;12841343;12843191;12935429;14531811;15099346;15118671;15656877;1592086;15941898;15983323;16258026;16338252;16429317;16570154;16928730;17175070;18413186;1868959;187516;18758746;1918876;2113037;6340423;6480830;7047662;7078435;7666262;7830494;8636395;8666151;9106496;9186885;9580247 10391209;10660332;11171287;11181756;11322655;11427182;11454011;11512679;11533368;11752456;11947893;11968086;11971936;12006918;12082592;12116231;12235167;12354428;12364471;12364543;12403660;12417924;12477932;12514935;12544508;12547874;12691171;12700335;12777470;12777476;12798568;12818414;12860265;12883629;12964943;12966036;1301939;14531818;14557872;14564687;14585761;14608050;14615390;14630921;14650352;14657196;14679168;14709367;14967812;14985399;15126514;15135251;15135253;15156410;15205216;15292235;15292318;15304509;15379569;15608561;15657615;15721010;15755868;15817871;15821100;15855254;15949705;15961789;15979432;15983229;16005462;16030523;16038892;16039291;16077949;16115483;16122151;16141008;16153627;16164573;16205020;16316842;16324926;16330034;16343038;16419358;16427731;16449872;16542392;16554020;16603721;1671786;16770077;16793047;16822236;16879193;17080261;17137217;17157861;17222414;17234195;17318300;17327141;17342071;17390085;17399967;17406067;17428321;17440012;17537154;17568951;17700364;17855807;17919884;18001531;18059528;18084291;18160998;18164013;18193043;18193044;18249219;182536;18275964;18354102;18364377;18468200;18510853;18513389;18592285;18599739;18622260;18636124;18641720;18660489;18675312;18676680;18724972;1883393;18927546;18978678;18996102;19034316;19043545;19052449;19056482;19060906;19060910;19060911;19088157;19101670;19131662;19136429;19148283;19155102;19155782;19170196;19263529;19285487;19336370;19350521;19367320;19420105;19428034;19429860;19479237;19489872;19528346;19534808;19558527;19578796;19625176;19656773;19689828;19691831;19692168;19695855;19729601;19734193;19773416;19783858;19810818;19876004;19878569;19913121;19936222;20031551;20125193;20139978;20160193;20167577;20186155;20222961;20373033;20384434;20385819;20385826;20400780;20403997;20430392;20444273;20452482;20492333;20536507;20565774;20595410;20602615;20628086;20634891;20673868;20679960;20682687;20686565;20691829;20822508;20851298;20855565;20864672;20888482;21139980;21189265;21252145;21261091;21352420;21371711;21386085;21447678;21548985;21665990;21750705;21943158;21960661;21986251;21988832;22047520;22073289;22262398;22286219;22294764;22359512;22385360;22399527;22449147;22464213;22916037;22935046;23144319;23181436;23222517;2324091;23251661;23281178;23343765;23348725;23351562;23455636;23457133;23505323;23535033;23874450;23991054;24023260;24097068;24223199;24386095;24458708;2447084;2605236;2828141;2839510;3244012;3692485;7721852;8640403;8865179;8865180;9645503;9685400 3990 A6H8L5;E7EUJ1;E7EUK6;P11150 ABBA01038984;AC018904;AC084781;AF037404;AI823349;AK290062;AK292631;AK293324;AK309448;AK315306;AMYH02030526;AMYH02030527;AV645541;BC132825;BC136495;BC146659;CH471082;D83062;D83548;J03540;J03895;JB248648;JB391757;KF456063;M29194;M35433;NG_011465;NM_000236;X07228;XM_005254372;XM_005254374;XM_006720501;XM_006720502 AAA59520;AAA59521;AAA61165;AAB60702;AAC34206;AAI32826;AAI36496;AAI46660;ADR83028;BAA11760;BAA12014;BAF82751;BAF85320;BAG37710;BAG56842;CAA30188;CDH61623;CDH93589;EAW77536;NP_000227;P11150;XP_005254429;XP_005254431;XP_006720564;XP_006720565 Hs.654472 1337709;1680906;1694516;1709636;1718227;1722423;1741557;1742341;1793300;2115386;2122553;2144965;2175055;5015961;5494163 D15S1033;D15S1272;D15S1477;G43001;G60285;GDB:181520;GDB:196354;L17844;PMC20757P1;RH122883;RH71438;RH79657;SHGC-85181;WI-11458;fb73a01.x1 HDLCQ12;HL;HTGL;LIPH OTTHUMP00000163470;hepatic lipase;hepatic triacylglycerol lipase;lipase member C APPROVED protein-coding ENSG00000166035 HGNC:6619 01058 125853;151670;612797;614025 REVIEWED 1350339 LIX1L Lix1 homolog (chicken) like INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; arsenous acid 1 1 1 q21.1 119680440 119702442 + 145477059 145501670 + 145933424 145958019 - 737633;6480464 12477932 15489334 128077 B3KY58;Q8IVB5 ABBA01005742;ABBA01005743;AC243547;AK123675;AK128733;AL160282;BC035727;CH471244;CR627381;NM_153713 AAH35727;BAG54720;CAH10478;EAW71416;EAW71417;NP_714924;Q8IVB5 Hs.740619 1658744;1695340;1698254;5014051;5015619;5015879;5015881;5016478;5020414;5020946;5022578;5024039;5037552 D11S3114;D16S325;D1S1423;D8S2278;D8S2279;GDB:314949;GDB:335751;GDB:434012;L17688;L17971;RH102663;SHGC-3211;SHGC-64769 DKFZp762F237;MGC46719 LIX1-like protein;Lix1 homolog-like;OTTHUMP00000015578 APPROVED protein-coding ENSG00000271601 HGNC:28715 14653 VALIDATED 1343566 LIX1 Lix1 homolog (chicken) INTERACTS WITH all-trans-retinoic acid; bisphenol A; trichostatin A 5 5 5 q15 92311977 92362917 - 96427574 96478520 - 97091870 97142816 - 6480464 11731258;12477932;12638132;14702039;15489334;18395445;19664890;19834535 167410 D6RID5;Q8N485 ABBA01069224;AC008865;AK098400;AK291034;AK307885;AMYH02011838;BC036467;CH471084;NM_153234 AAH36467;BAC05298;BAF83723;EAW96086;EAW96087;NP_694966;Q8N485 Hs.656702 1682988;1723745;1739885;1773072;1850833;2183465;5016006 D5S1934;D5S2426;D5S2466;HSCZSH042;LIX1;RH118608;RH91721 C5orf11;FLJ25534 OTTHUMP00000158908;limb expression 1;protein limb expression 1 homolog protein-coding ENSG00000145721 HGNC:18581 08069 610466 VALIDATED 2947567 LIPT2 lipoyl(octanoyl) transferase 2 (putative) ENCODES a protein that exhibits ligase activity (inferred); lipoyl(octanoyl) transferase activity (inferred); octanoyltransferase activity (inferred); INVOLVED IN cellular protein modification process (inferred); lipoate biosynthetic process (inferred); PARTICIPATES IN lipoic acid metabolic pathway; FOUND IN mitochondrion (inferred); INTERACTS WITH dibutyl phthalate (ortholog); silicon dioxide (ortholog) 11 11 11 q13.4 71509689 71511520 - 74202923 74204755 - 74491878 74493710 - 6480464;6907045 11181995;15146197;20877624;24250222 387787 A6NK58;H0YC96;H0YD50 ABBA01017486;AMYH02025107;AP001372;CH471076;CN348282;CX752266;NM_001144869 A6NK58;EAW74939;NP_001138341 Hs.591971 2186162 STS-AA040074 OTTHUMP00000230589;OTTHUMP00000230590;OTTHUMP00000230591;lipoate-protein ligase B;lipoyl/octanoyl transferase;octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase;putative lipoyltransferase 2, mitochondrial;putative octanoyltransferase, mitochondrial protein-coding ENSG00000175536 HGNC:37216 VALIDATED 1349298 LLP lactation, late, protein (macropodids) 3997 HGNC:6630 1604260 LLPH LLP homolog, long-term synaptic facilitation (Aplysia) ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; disodium selenite 12 12 12 q14.3 66183159 66190843 - 66516849 66524533 - 66123069 66130753 - 6480464 12477932;14702039;15489334;16189514;20360068;21832049;23602568;24816145 84298 Q9BRT6 ABBA01026577;AC078927;AK057947;AK091568;AMYH02026676;BC006002;BC070232;BC107780;BM996194;CH471054;CS300557;KF455658;NM_032338 AAH06002;AAH70232;AAI07781;BAC03699;CAK32221;EAW97155;EAW97156;NP_115714;Q9BRT6 Hs.504820 2107359;5022588;5037552 D5S1597E;D8S2279;MGC14817__7671 C12orf31;MGC104302;MGC14817;hLLP OTTHUMP00000239823;human LAPS18-like protein;protein LAPS18-like;protein LLP homolog protein-coding HGNC:28229 11308 VALIDATED 8695485 LLPH-AS1 LLPH antisense RNA 1 (head to head) q14.3 16344560 103625681 AC078927;DA010836;DA477153;NR_125724 Hs.504820 ncrna HGNC:50493 VALIDATED 1604727 LKAAEAR1 LKAAEAR motif containing 1 20 20 20 q13.33 59400922 59401901 - 62714729 62715712 - 64083376 64084359 - 12477932 198437 Q8TD35 ABBA01021440;AL590548;AMYH02037482;BC036837;CH471077;NM_001007125;XM_005260200 AAH36837;EAW75164;EAW75165;NP_001007126;Q8TD35;XP_005260257 Hs.570316 C20orf201 LKAAEAR motif-containing protein 1;OTTHUMP00000031628;bA299N6.3;hypothetical protein LOC198437;uncharacterized protein C20orf201 APPROVED protein-coding ENSG00000171695 HGNC:33718 17317 PROVISIONAL 735583 LITAF lipopolysaccharide-induced TNF factor Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppresor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2008] 16 16 16 p13.13 11813516 11854903 - 11641578 11681322 - 11547722 11587466 - 1580863;6480464;7240710;8554872;8699517 10200294;11042109;11274176;11713717;12477932;12525712;12761501;14641644;14702039;15064722;15122712;15197774;15231748;15489334;15776429;15786462;15793005;16118794;16169070;16344560;16373087;16787513;16804395;16872372;16912585;18029348;18078129;19170196;19305408;19305409;19322201;19625176;19692168;20301384;20301532;20709679;20957525;21139048;21217782;21326863;21347282;21362361;21836606;21890473;21896645;22282245;22765307;23128233;23166209;23166352;23275563;23333304;23576546;23795761;23824909;9305847 9516 I3L133;I3L1H3;I3L1I9;I3L1P1;I3L1R0;I3L2E2;I3L2T1;I3L2T6;I3L329;I3L3U8;I3L409;Q99732 AA625937;AB034747;ABBA01006822;ABBA01006823;AC007616;AC099489;AF010312;AK095955;AK130788;AK314519;AMYH02031474;BC000053;BC008309;BC016491;BC039840;BC046154;BC065293;BC096063;BC096064;BC096065;BC096066;BC101401;BC101402;BC101969;BI858484;BX537543;CH471112;DA955452;KF456159;NG_009008;NM_001136472;NM_001136473;NM_004862;NR_024320;U77396;XM_006720982;XM_006720983;XM_006720984;XM_006720985 AAB36550;AAC39530;AAH00053;AAH08309;AAH16491;AAH39840;AAH46154;AAH96063;AAH96065;AAH96066;AAI01402;AAI01403;AAI01970;ABZ92218;ACE86599;ACE87280;BAB32547;CAD97778;EAW85148;EAW85149;EAW85150;EAW85151;EAW85152;EAW85153;NP_001129944;NP_001129945;NP_004853;Q99732;XP_006721045;XP_006721046;XP_006721047;XP_006721048 Hs.459940 1335387;1339916;1725747;1737583;1852079;1855165;2114264 D16S2671;D16S3304;D16S519;D16S764;G62064;RH70306;SHGC-61147 FLJ38636;MGC116698;MGC116700;MGC116701;MGC125274;MGC125275;MGC125276;PIG7;TP53I7 LPS-induced TNF-alpha factor;SIMPLE;lipopolysaccharide-induced TNF-alpha factor;lipopolysaccharide-induced tumor necrosis factor-alpha factor;p53-induced gene 7 protein;small integral membrane protein of lysosome/late endosome;tumor protein p53 inducible protein 7 APPROVED protein-coding ENSG00000189067 HGNC:16841 10354 601098;603795 REVIEWED 1321499 LMAN1L lectin, mannose-binding, 1 like ENCODES a protein that exhibits carbohydrate binding (inferred); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH carmustine; lead(0); lead(2+) 15 15 15 q24.1 52055222 52068128 + 75105194 75118099 + 74812853 74825758 + 1580863;6480464;6907045;8554872 11255007;12477932;12880961;12975309;14702039;15489334;17805346;18056485;18283111;19430483;20237496;20379614;21490707 79748 H3BN74;H3BSC9;Q9HAT1 ABBA01060504;ABBA01060505;AC091230;AF303398;AK092591;AK291819;AK294807;AK300517;AK309976;AMYH02030798;AY358724;CH471136;NM_021819 AAG30902;AAI56428;AAI72487;AAQ89086;BAF84508;BAG57926;BAG62229;EAW99308;EAW99309;EAW99310;NP_068591;Q9HAT1 Hs.620644 ERGIC-53L;ERGL ERGIC-53-like protein;ERGIC53-like protein;LMAN1-like protein;OTTHUMP00000183470;lectin mannose-binding 1-like;protein ERGIC-53-like protein-coding ENSG00000140506 HGNC:6632 17284 609548 VALIDATED 1321082 LIPT1 lipoyltransferase 1 The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011] 2 2 2 q11.2 93976106 93984222 + 99771418 99779620 + 99154955 99163157 + 6480464;6907045 10103005;11042152;12477932;15489334;16169070;16344560;17207965;20877624;20972266;21832049;21890473;21926972;24341803;8206978;9405389 51601 C9J6A9;C9J7C5;C9JUU5;C9JW10;Q9Y234 AA811675;AB017566;AB017567;ABBA01073951;AC092587;AMYH02004395;AMYH02004396;BC007001;BC009772;BC070145;BG717409;BQ422048;BQ432795;BX100979;CH471127;DA607268;NM_001204830;NM_015929;NM_145197;NM_145198;NM_145199;NR_037935;NR_037936 AAH07001;AAH09772;AAH70145;AAX88927;ADQ32754;BAA76367;BAA76368;EAX01877;NP_001191759;NP_057013;NP_660198;NP_660199;NP_660200;Q9Y234 Hs.719172;Hs.739177 1648285;1679355;1768679;1768681;2107269 LIPT1__6399;RH79092;RH80012;WI-18450;WI-18495 MGC12290;MGC13378 OTTHUMP00000161220;OTTHUMP00000203291;OTTHUMP00000203292;OTTHUMP00000203293;OTTHUMP00000203294;lipoate biosynthesis protein;lipoate-protein ligase;lipoyl ligase;lipoyltransferase 1, mitochondrial APPROVED protein-coding ENSG00000144182 HGNC:29569 17282 610284 REVIEWED 1319046 LMAN2 lectin, mannose-binding 2 This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq, Oct 2008] 5 5 5 q35.3 171722374 171742745 + 176758563 176778885 - 177331562 177351884 - 1580863;6480464;6907045 10444376;11359937;12477932;12517452;12609988;12754519;12878160;15308636;15489334;16009940;16129679;17169971;17255364;17586539;18025080;18781797;18854154;19056867;20383146;20477988;21139048;21890473;21906983;21987572;21988832;22190034;22645275;22703881;22939629;23000965;23246001;23269669;24332808;8125298 10960 D6RBH1;D6RBV2;D6RDX1;D6RIU4;Q12907 ABBA01033457;ABBA01033458;AC146507;AK222609;AK292099;AK301607;AK308027;AMYH02012834;AMYH02012835;BC017263;CH471195;DC404202;NM_006816;U10362 AAA19572;AAH17263;ADZ15747;BAD96329;BAF84788;BAG63093;EAW85014;EAW85015;NP_006807;Q12907 Hs.75864 1338207;1660703;1664864;5016590;7186397 D5S2435;D5S469;GDB:625967;STS-U10362 C5orf8;GP36B;VIP36 OTTHUMP00000161453;OTTHUMP00000223591;OTTHUMP00000223592;OTTHUMP00000223593;glycoprotein GP36b;vesicular integral protein of 36 kDa;vesicular integral-membrane protein 36;vesicular integral-membrane protein VIP36 APPROVED protein-coding ENSG00000169223 HGNC:16986 17285 609551 REVIEWED 733152 LLGL1 lethal giant larvae homolog 1 (Drosophila) This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 19074368 19089303 + 18128907 18148189 + 18225593 18244875 + 1580863;6480464;8554872 11714708;11997338;12477932;12725730;14676191;15467749;15489334;15735678;16169070;16170365;17369850;18074678;18793635;19322201;19447873;19913121;20562859;20628086;20811636;20829363;21078624;21139048;21145461;21890473;21963094;22843887;23000965;23110097;23277453;23402259;23864775;23907540;24250222;7542763;8565641;9177775 3996 Q15334 ABBA01009736;AC109515;AC127537;AMYH02033110;AMYH02033111;BC028037;BC028214;BC051466;BC151838;BQ923585;BQ937224;CH471196;D50550;NM_004140;X86371;XM_005256643;XM_005256644 AAH28037;AAH28214;AAI51839;AAI67831;BAA19516;CAA60130;EAW55657;EAW55658;EAW55659;EAW55660;NP_004131;Q15334;XP_005256700;XP_005256701 Hs.513983 1684236;1689296;5037552;5119193 D17S1711;D8S2279;RH39400;SHGC-12561 DLG4;HUGL;HUGL-1;HUGL1;LLGL OTTHUMP00000065700;human homolog to the D-lgl gene protein;lethal(2) giant larvae protein homolog 1 APPROVED protein-coding ENSG00000131899 HGNC:6628 02982 600966 REVIEWED 1322831 LMAN2L lectin, mannose-binding 2-like ENCODES a protein that exhibits mannose binding (inferred); metal ion binding (inferred); INVOLVED IN protein transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum membrane; Golgi apparatus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; copper(2+) sulfate 2 2 2 q11.2 91812913 91845986 - 97371666 97405813 - 96705929 96740076 - 1580863;6480464;8554872 11076863;11230166;12477932;12609988;12878160;12975309;15489334;15489336;15815621;16303743;16381901;18025080;21139048;21926972;22182935;24816145;8125298 81562 B4DVH1;F2Z2L5;F8WB07;F8WCX4;F8WEK5;Q9H0V9 ABBA01036583;ABBA01036584;AC068539;AJ549957;AK075347;AK222828;AK295463;AK299740;AK301077;AK304515;AK308085;AK310100;AK312249;AK316331;AL136617;AMYH02004335;AY358929;BC000347;BC004505;BC005822;BC005862;BC067265;BX648002;CH471207;NM_001142292;NM_030805;NR_024518;NR_024519;NR_024520;NR_024521;XM_006712785 AAH00347;AAH05822;AAH05862;AAH67265;AAQ89288;AAX93211;ACE86555;ACE87237;BAC11559;BAD96548;BAG35181;BAG58395;BAG61635;BAG62683;BAG65320;BAH14702;CAB66552;CAD71268;CAH56196;CAL37585;EAW71341;EAW71342;EAW71343;EAW71344;NP_001135764;NP_110432;Q9H0V9;XP_006712848 Hs.655743 1654527;1693726;1751507;2166704;2168706 A005U03;Cda0ma07;D2S1990;SHGC-105336;SHGC-58649 DKFZp564L2423;MGC11139;VIPL LMAN2-like protein;OTTHUMP00000161010;OTTHUMP00000207550;VIP36-like protein protein-coding ENSG00000114988 HGNC:19263 17286 609552 VALIDATED 1352056 LMBR1 limb development membrane protein 1 This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008] 7 7 7 q36 150900771 151113109 - 156470537 156685902 - 156677840 156893208 - 6480464;7240710;8699517;8554872 10329000;10945466;11076863;11090342;11333865;11606546;12032320;12477932;12491086;12690205;12837695;12853948;14702039;14727139;15489334;15489336;16344560;16381901;17152067;17300748;18698406;19136951;20068592;20379614;20446115;21139048;21906983;22495965;22786669;23793141;8533803;9847074 64327 B7Z633;F2Z2Z3;F8WB14;F8WCL1;F8WDW0;F8WEK4;F8WEN8;H0Y6V6;H7C1Y4;Q8NDP7;Q8WVP7 ABBA01032374;ABBA01032375;ABBA01032376;AC005534;AC007075;AC007097;AF063592;AF348513;AF402318;AK021727;AK026940;AK291037;AK299753;AL833934;AL834394;AMYH02017148;AMYH02017149;AMYH02017150;AMYH02017151;BC017663;BC063649;CH236954;CH471149;DA238712;H18430;NG_009240;NM_022458;XM_005249555;XM_005249556;XM_005249558;XM_005249559;XR_428184;XR_428185 AAD43188;AAF03516;AAG43151;AAH17663;AAK31345;AAK94061;AAS00382;BAB13880;BAB15595;BAF83726;BAH13119;CAD38789;CAD39056;CAL37499;CAL38021;CAL38132;CAL38703;EAL23920;EAX04559;EAX04560;EAX04561;EAX04562;NP_071903;Q8WVP7;XP_005249612;XP_005249613;XP_005249615;XP_005249616 Hs.209989 1299922;1659095;1666392;1671157;1687606;1687818;1691298;1694884;1709958;1735680;1789494;1789552;1847142;1847826;2121136;2184903 D7S2078E;D7S2112E;D7S2138E;D7S3159;D7S3164;D7S559;G44324;GDB:1317756;GDB:1318256;RH92221;RH98325;SHGC-30207;SHGC-36739;SHGC-53202;SHGC-57287;SHGC-82247 ACHP;C7orf2;DIF14;FLJ11665;PPD2;THYP;TPT;ZRS OTTHUMP00000211717;OTTHUMP00000211720;chromosome 7 open reading frame 2;differentiation-related gene 14 protein;limb region 1 homolog;limb region 1 protein homolog APPROVED protein-coding ENSG00000105983 HGNC:13243 05700 174500;186200;188740;200500;605522 REVIEWED 1353110 LLGL2 lethal giant larvae homolog 2 (Drosophila) The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 70142313 70161385 + 73521783 73571290 + 75525690 75575209 + 6480464 12477932;12725730;14676191;14702039;15489334;15632202;18029348;18155665;18199550;19403135;19407852;19851296;20198315;20233622;20360068;20941506;21890473;21906983;22580609;23000965;23110097;23332925;24318287 3993 A0PJJ0;J3KRE1;J3KSD5;J3QKM6;J3QL58;J3QLD8;J3QLV4;J3QRV5;J3QRZ8;J3QS20;J3QSA6;Q6P1M3 ABBA01028779;ABBA01028780;ABBA01028781;ABBA01028782;ABBA01028783;ABBA01028784;ABBA01028785;ABBA01028786;AC100787;AK025401;AK125563;AK126687;AK301204;AK315126;AMYH02033999;AMYH02034000;BC006503;BC010879;BC031842;BC064994;BC067840;CH471099;NM_001015002;NM_001031803;NM_004524;X87342;XM_006721897;XM_006721898;XM_006721899;XR_243659 AAH06503;AAH10879;AAH31842;AAH64994;BAG54359;BAG62781;CAA60780;EAW89280;EAW89281;EAW89282;EAW89283;NP_001015002;NP_001026973;NP_004515;Q6P1M3;XP_006721960;XP_006721961;XP_006721962 Hs.514477 1676840;1677738;1773536;2152358;2191575;5100464 D17S631;D17S714;MARC_26641-26642:1036186601:1;RH70937;RH79176;RH98802 HGL;LGL2 human giant larvae homolog;lethal(2) giant larvae protein homolog 2 APPROVED protein-coding ENSG00000073350 HGNC:6629 10041 REVIEWED 1603597 LMBRD2 LMBR1 domain containing 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH aflatoxin B1; cyclosporin A; ethyl methanesulfonate 5 5 5 p13.2 35989107 36037708 - 36103414 36152015 - 36103312 36151961 - 6480464;8554872 12477932;14702039;19176441;19946888;21987572 92255 B4DTZ7;Q68DH5 ABBA01024162;AC008942;AK091295;AK300433;AK307575;AL137370;AMYH02011163;BC110506;BC110507;BI559676;BX647340;CH471119;CR749399;NM_001007527;XR_427666 AAI10507;BAG52328;BAG62159;CAB70714;CAH18245;EAW55932;EAW55933;NP_001007528;Q68DH5 Hs.294103 1755205 SHGC-142113 DKFZp434H2226;DKFZp686G1057;MGC125692;MGC125693 LMBR1 domain-containing protein 2;OTTHUMP00000221402 protein-coding HGNC:25287 16813 VALIDATED 8655256 LMF1-AS1 LMF1 antisense RNA 1 16 16 p13.3 970996 983975 + 920996 934518 + 101929387 ABBA01030338;AMYH02031211;BM547968;BX397433;HG507568;HG507569;KF456135;NR_110945;NR_110946;XR_243330;XR_248263;XR_253474;XR_424753;Z93041 Hs.737087 LA16c-366D3.1 ncrna ENSG00000260439 HGNC:50469 VALIDATED 1603995 LMBR1L limb development membrane protein 1-like INVOLVED IN endocytosis (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 12 12 12 q13.12 48285709 48299467 - 49490334 49504683 - 49096551 49110900 - 6480464 10574461;11287427;12477932;12591932;12975309;14702039;15489334;16344560;16423471;17991420;19136951;20446115;21791187;23964685 55716 E7ESX7;F8VPB1;F8VVE2;F8VYZ9;F8VZU8;F8W054;F8W0N6;F8WE63;H0YHY8;H0YHZ2;H0YI83;H0YIX2;Q6UX01 AB033000;ABBA01031503;AC011603;AF260728;AF351620;AK001356;AK001651;AK093570;AK298026;AK298859;AK310064;AK310674;AL137599;AL556633;AMYH02026434;AY358572;BC008337;BC015015;BC031550;CH471111;DA012883;NM_001300750;NM_001300751;NM_018113;XM_005269022;XM_005269023;XM_006719501;XM_006719502;XR_245944 AAH08337;AAH15015;AAH31550;AAK60600;AAK63067;AAQ88935;ABM83333;ABM86545;BAA86488;BAA91646;BAA91811;BAG60328;BAG60981;CAB70835;EAW58040;EAW58041;EAW58042;EAW58043;EAW58044;EAW58045;EAW58046;EAW58047;NP_001287679;NP_001287680;NP_060583;Q6UX01;XP_005269079;XP_005269080;XP_006719564;XP_006719565 Hs.272838 1685760;2107267;2191093;5112321 LIMR__7410;MARC_14539-14540:1008957287:5;RH103359;RH93826 FLJ10494;FLJ36251;KIAA1174;LIMR OTTHUMP00000197702;OTTHUMP00000243728;limb region 1 homolog-like;limb region 1 protein homolog-like;lipocalin-1 interacting membrane receptor;lipocalin-1-interacting membrane receptor;lipocalin-interacting membrane receptor APPROVED protein-coding ENSG00000139636 HGNC:18268 17276 610007 VALIDATED 1348602 LMF1 lipase maturation factor 1 The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] 16 16 16 p13.3 1107225 1239539 - 903634 1031318 - 853634 981318 - 6480464;7240710;8554872;8699517 11157797;12477932;14702039;15221005;15489334;16344560;17994020;19471043;19783858;19820022;20379614;21447484;23446634;24250222;24909692;8125298;8889548 64788 B3KS80;B4DFZ0;B4DH50;F5H802;H3BN37;H3BP58;H3BQC9;H3BQT4;H3BSB7;H3BUN8;H3BVI4;Q96S06 AB075873;ABBA01030337;ABBA01030338;ABBA01030339;ABBA01030340;AC009041;AE006465;AK022743;AK025955;AK093050;AK125201;AK225065;AK225406;AK294329;AK294932;AL008727;AL031008;AL031716;AL832177;AMYH02031210;AMYH02031211;BC010738;BC014196;BC028099;BM017667;CA427159;CH471112;CK300754;CQ834724;DA200865;HG507575;HG507576;HG507577;KF456135;KF456139;KF456141;KF456144;NG_021286;NM_022773;NR_033645;NR_033646;NR_036442;XM_006720926;XM_006720927;XM_006720928;XM_006720929;XM_006720930;XR_429646;Z93041 AAH10738;AAH28099;AAI56646;AAK61259;BAB14218;BAB15295;BAD38655;BAG52642;BAG54164;BAG57601;BAG58011;CAH05577;EAW85696;EAW85697;EAW85698;EAW85699;EAW85700;NP_073610;Q96S06;XP_006720989;XP_006720990;XP_006720991;XP_006720992;XP_006720993 Hs.71912 1674332;1731695;1767397;2127501;2181226;5019138 A004H36;D16S3341;D16S525;RH102409;RH48283;SHGC-60610 C16orf26;FLJ12681;FLJ22302;HMFN1876;JFP11;RP11-161M6.2;TMEM112;TMEM112A OTTHUMP00000045515;chromosome 16 open reading frame 26;transmembrane protein 112 APPROVED protein-coding ENSG00000103227;ENSG00000260807 HGNC:14154 07789 246650;611761 REVIEWED 733977 LMBRD1 LMBR1 domain containing 1 This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009] 6 6 6 q13 70774043 70895462 - 70385641 70507049 - 69675749 69797157 - 6480464;7240710;8699517;8554872 11042152;12477932;14574404;14702039;15489334;15956556;16344560;19136951;19946888;20127417;20301503;20339536;20446115;21303734;21963094;22939629;23175358;24078630;8125298 55788 Q9NUN5 AB074281;ABBA01008894;ABBA01008895;ABBA01008896;AF113224;AF208863;AF211480;AK002102;AK021916;AK225187;AK225537;AK290069;AL358133;AL583831;AL590702;AMYH02013869;AY136817;BC010360;BC047073;BJ995961;BX647737;CH471051;DA028310;NG_016012;NM_018368;XM_006715511 AAF64277;AAG39295;AAH10360;AAH47073;AAK26247;AAN11301;BAA92087;BAF82758;EAW48831;EAW48832;EAW48833;EAW48834;EAW48835;NP_060838;Q9NUN5;XP_006715574 Hs.271643;Hs.736005 1650653;1770941;1968560;2154674;2175540 1030;1062;D6S343E;REN55157;WI-13678 C6orf209;FLJ11240;FLJ11854;LMBD1;MAHCF;NESI;RP11-810I22.1;bA810I22.1;cblF HDAg-L-interacting protein NESI;LMBR1 domain-containing protein 1;OTTHUMP00000016692;OTTHUMP00000016693;OTTHUMP00000016694;hepatitis delta antigen-L interacting protein;liver regeneration p-53 related protein;nuclear export signal-interacting protein;probable lysosomal cobalamin transporter APPROVED protein-coding ENSG00000168216 HGNC:23038 12877 277380;612625 REVIEWED 1606481 LMF2 lipase maturation factor 2 FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); coumarin (ortholog) 22 22 22 q13.33 34817402 34822161 - 50941376 50946148 - 50502947 50507719 - 6480464 12477932;15461802;19946888;21890473;21906983;22268729;24816145 91289 Q9BU23 ABBA01042627;ABBA01042628;AK130818;AMYH02038617;BC002942;BC014652;BC021143;BI917400;BU628394;BX412067;CH471138;CR456605;NM_033200;U62317;XM_005261955;XM_006724426;XM_006724427 AAB03346;AAH02942;AAH14652;AAH21143;BAC85437;CAG30491;EAW73548;EAW73549;EAW73550;EAW73551;NP_149977;Q9BU23;XP_005262012;XP_006724489;XP_006724490 Hs.150540 1678645 RH93825 TMEM112B;TMEM153 OTTHUMP00000196605;OTTHUMP00000218700;OTTHUMP00000218701;transmembrane protein 112B;transmembrane protein 153 protein-coding ENSG00000100258 HGNC:25096 12519 VALIDATED 732234 LMAN1 lectin, mannose-binding, 1 The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. [provided by RefSeq, Jul 2008] 18 18 18 q21.3-q22 53712874 53744326 - 56995055 57026508 - 59327823 59359276 - 1600100;1580863;6480464;6907045;7240710;8554872;8699517 9546392 10090935;10725420;11333866;11561111;11607788;11840567;11992290;12175909;12477932;12487819;12560567;12665801;12672193;12717434;12727195;12941144;14593599;14629470;14732744;15117939;15145932;15166951;15292203;15308636;15489334;15572157;15632110;15716605;15728497;15886209;16044454;16054885;16114131;16257008;16670774;16735443;16938437;17010120;17496053;17535801;17805346;18025080;18287528;18391077;18508857;18577465;18781797;18974842;19118014;19199708;19322201;19342655;19380618;19423540;19850743;19913121;19946888;20007547;20138881;20237496;20406964;20438785;20460353;20628086;21139048;21757827;21832049;21890473;21906983;21963094;22190034;22337587;22764119;22939629;23000965;23709226;23852824;24237698;24654937;25015289;7876089;8125298;8205612;8223692;8267903;8666845;8854877;9245995;9774442 3998 P49257;Q53FS4 ABBA01056168;AC016229;AC067859;AF081866;AF081867;AF081869;AF081871;AF081873;AF081875;AF081877;AF081879;AF081880;AF081882;AF081884;AF081885;AI280513;AK025773;AK223208;AK225108;AK225111;AK301244;AK312869;AMYH02034827;BC008401;BC017858;BC032330;CH471096;DC308886;NG_012097;NM_005570;U09716;X71661 AAA95960;AAD32479;AAD32480;AAD32481;AAD32482;AAD32483;AAD32484;AAD32485;AAD32486;AAD32487;AAD32488;AAD32489;AAD32490;AAH17858;AAH32330;ABM82180;ABM85366;BAD96928;BAG35721;BAG62812;CAA50653;EAW63096;EAW63097;EAW63098;NP_005561;P49257 Hs.465295 1650948;1712537;1734600;1852303;1857594;2144837;2166513;2184297 D18928;D18S896E;D18S948E;RH47264;RH48271;SHGC-12001;STS-U09716;WI-11993 ERGIC-53;ERGIC53;F5F8D;FMFD1;MCFD1;MR60;gp58 ER-Golgi intermediate compartment 53 kDa protein;OTTHUMP00000163644;endoplasmic reticulum-golgi intermediate compartment protein 53;intracellular mannose specific lectin;intracellular mannose-specific lectin MR60 APPROVED protein-coding ENSG00000074695 HGNC:6631 03338 227300;601567 REVIEWED 6481414 LMLN-AS1 LMLN antisense RNA 1 q29 100873947 AC135893;BF980203;NR_046669 Hs.637166 APPROVED ncrna HGNC:40738 VALIDATED 1319043 LMCD1 LIM and cysteine-rich domains 1 This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 3 3 3 p26-p24 8480112 8546564 + 8543493 8609811 + 8501807 8568125 + 1580863;6480464;8554872 10662546;12477932;14702039;15146197;15489334;16199866;18157088;18816836;19616115;20098747;20379614;21629665;21832049;21996735;23940030;8889549 29995 B4DEY6;B7Z6R5;C9IYS1;F5GX84;F8WB09;H7C3D2;Q9NZU5 ABBA01020417;AC087859;AF169284;AF216709;AI693011;AI951010;AK022176;AK074448;AK293849;AK294455;AK300803;AMYH02006221;BC000646;BU619403;BX114807;CH471055;CN388104;N95437;NM_001278233;NM_001278234;NM_001278235;NM_014583;W47274 AAF34411;AAG36778;AAH00646;ABM82673;ABM85852;BAB13976;BAG57247;BAG57691;BAH13351;EAW63937;EAW63938;NP_001265162;NP_001265163;NP_001265164;NP_055398;Q9NZU5 Hs.475353;Hs.732705 1685007;1771002;1788690;1857840;2167267 RH118390;RH78679;RH93928;SHGC-76678;STS-N95054 LIM and cysteine-rich domains protein 1;OTTHUMP00000207035;OTTHUMP00000207036;dyxin APPROVED protein-coding ENSG00000071282 HGNC:6633 06891 604859 REVIEWED 7056190 LMCD1-AS1 LMCD1 antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 3 p26.1 8200749 8479945 - 8262834 8543344 - 8221147 8501658 - 8554872 17903294;20379614 100288428 ABBA01020417;ABBA01020418;ABBA01020419;ABBA01020420;ABBA01020421;ABBA01020422;AC023481;AC087589;AC087859;AK124088;AMYH02006219;AMYH02006220;AMYH02006221;HG495428;HG495430;HG495431;KF457569;KF457570;KF457571;KF457575;KF573642;KF573701;NR_033378 BAG54005 Hs.651576 1338456;1340651;1679337;1706122;1710718;1722153;1754515;1757255;1787500;1787502;1997950 D16S3131;D3S1537;G60126;REN69886;RH80992;SHGC-132793;SHGC-144674;SHGC-155428;SHGC-155429;SHGC-80102;SHGC-83688 AC087859.1 ncrna ENSG00000227110 HGNC:44477 VALIDATED 1354137 LMNL1 lamin A/C-like 1 8511676 4002 HGNC:6639 1344804 LMNL2 lamin A/C-like 2 8511676 4003 HGNC:6640 1345535 LMNB2 lamin B2 This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012] 19 19 19 p13.3 2365655 2394449 - 2428163 2456966 - 2428165 2456968 - 1580863;6480464;7240710;8554872 10806082;10835276;10960149;11207047;11691994;12477932;12902329;1291239;12912926;15024083;15057824;15284226;15489334;15611042;15910003;1630457;16341674;16543417;16826530;17070523;17081983;17290216;19165527;19322201;1939065;19759913;19913121;20004208;20309963;20628086;21139048;21400569;21890473;21906983;22412018;22505724;22586326;22768673;22797925;23000965;23383273;23398456;23475125;23874603;2406262;24457600;24778252;24816145;2544227;3515346;8543011;924328;9243284;9436978;9490046 84823 J9JID7;Q03252 ABBA01002736;ABBA01002737;AC005624;AC011522;AK129641;AL560944;AMYH02035200;BC006513;BC006551;BC009267;BE791439;BE791473;BM757169;BT007441;CH471139;M94362;M94363;NG_008355;NM_032737 AAA80979;AAB00873;AAC34573;AAH06551;AAP36109;ACE87063;ACE87744;EAW69378;EAW69379;NP_116126;Q03252 Hs.538286 1672866;1680192;1793808 D19S839;PMC291826P2;RH80287 FLJ26130;LAMB2;LMN2;MGC2721 OTTHUMP00000198023;lamin-B2 APPROVED protein-coding ENSG00000176619 HGNC:6638 01037 150341;608709 REVIEWED 1602644 LMNTD1 lamin tail domain containing 1 ENCODES a protein that exhibits structural molecule activity (inferred); INVOLVED IN cell proliferation (inferred); FOUND IN cytoplasm (inferred); intermediate filament (inferred); nuclear envelope (inferred); INTERACTS WITH calcitriol; levonorgestrel 12 12 12 p12.1 30775975 30947972 - 25629016 25801496 - 25476082 25648562 - 6480464 12477932;14702039;15342556;15688036;16344560;21832049;8889548 160492 F5H3Q3;F5H5I3;F5H719;F5H8G2;H0YFE3;H0YFH5;Q8N9Z9 ABBA01068023;ABBA01068024;AC022367;AK093323;AK296816;AK302292;AK310411;AMYH02026224;AMYH02026225;AMYH02026226;BC037957;BM976998;BP359528;CH471094;DB029156;DB039294;DB054364;DW009862;NM_001145727;NM_001145728;NM_001145729;NM_001256266;NM_152590;XM_006719039 AAH37957;BAC04132;BAG59389;BAG63632;EAW96516;EAW96517;EAW96518;NP_001139199;NP_001139200;NP_001139201;NP_001243195;NP_689803;Q8N9Z9;XP_006719102 Hs.44647 1704228;1721561;1755863;2128377 D12S1313;G59785;SHGC-142701;SHGC-83143 FLJ36004;IFLTD1;Pas1c1 OTTHUMP00000240000;OTTHUMP00000240001;OTTHUMP00000240103;OTTHUMP00000240104;OTTHUMP00000240105;intermediate filament tail domain containing 1;intermediate filament tail domain-containing protein 1;lamin tail domain-containing protein 1 APPROVED protein-coding ENSG00000152936 HGNC:26683 08768 VALIDATED 1322938 LMLN leishmanolysin-like (metallopeptidase M8 family) This gene encodes a zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 3 3 3 q29 196303224 196385377 + 197687071 197770591 + 197960200 198043720 + 1580863;6480464;8554872 15557119;16344560;18029348;19706689 89782 B4DR62;C9JF40;F8WCE5;Q96KR4 ABBA01007557;ABBA01007558;ABBA01007559;AC135893;AI967988;AJ312398;AJ312399;AK299119;AL832783;AM920777;AM920778;AMYH02008527;AMYH02008528;CH471252;DB054915;NM_001136049;NM_033029;NR_026786;NR_026787 AAI46294;AAI48742;BAG61174;CAC42882;CAC42883;CAP49203;CAP49204;EAW92251;EAW92252;EAW92253;NP_001129521;NP_149018;Q96KR4 Hs.518540 1653217;2172710;2186896 G16589;G30979;SHGC-77716 GP63;INV;IX14;MSP OTTHUMP00000207833;OTTHUMP00000207834;OTTHUMP00000207835;OTTHUMP00000207836;invadolysin;leishmanolysin-2;leishmanolysin-like peptidase APPROVED protein-coding ENSG00000185621 HGNC:15991 07023 609380 REVIEWED 1603159 LMNTD2 lamin tail domain containing 2 ASSOCIATED WITH Melanoma (inferred) 11 11 11 p15.5 617191 623436 - 554850 560779 - 554850 560779 - 8554872 12477932;15489334 256329 C9JV74;E9PJR3;Q8IXW0 ABBA01015192;AC138374;AI539379;AMYH02024144;AMYH02024145;AP006284;BC037936;BC039077;BX384084;BX384085;CH471158;NM_173573;XM_005252846;XM_006718174;XM_006718175 AAH39077;EAX02345;EAX02346;EAX02347;NP_775844;Q8IXW0;XP_005252903;XP_006718237;XP_006718238 Hs.669395 1693542 SHGC-58456 C11orf35;MGC35138 OTTHUMP00000162850;hypothetical protein LOC256329;lamin tail domain-containing protein 2;uncharacterized protein C11orf35 APPROVED protein-coding ENSG00000185522 HGNC:28561 14600 VALIDATED 1352109 LMO1 LIM domain only 1 (rhombotin 1) This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012] 11 11 11 p15 8363953 8403488 - 8245851 8290182 - 8224304 8268635 - 1580863;6480464 10603358;11528126;12477932;1507224;15123239;15342556;15489334;16103065;1703797;17207965;17471240;20200953;2034676;20379614;2052354;21124317;21602560;22581228;22941191;2303035;2311586;23302769;23743675;2501659;3259177;7957052;8078932;8595880;8876198;9020185;9819382;9872335 4004 E9PK83;P25800 ABBA01028688;ABBA01028689;ABBA01028690;AC091013;AJ277662;AMYH02024289;AW006226;BC039512;BC069673;BC069752;BC069793;BC096056;BC096057;BC096058;BP218183;CH471064;M26682;NG_032827;NM_001270428;NM_002315;NR_073006;U73635;X64244;XM_006718228 AAA36819;AAH39512;AAH69673;AAH69752;AAH69793;AAH96056;AAH96057;AAH96058;ADQ32867;CAC14587;EAW68626;NP_001257357;NP_002306;P25800;XP_006718291 Hs.654426 1729045;1737833;2124113;2217562 D11S3445;D11S4594;LMO1_2846;Lmo1 LMO-1;MGC116692;RBTN1;RHOM1;TTG1 LIM domain only protein 1;OTTHUMP00000231156;OTTHUMP00000231157;OTTHUMP00000231239;T-cell translocation gene 1;T-cell translocation protein 1;cysteine-rich protein TTG-1;rhombotin-1 APPROVED protein-coding ENSG00000166407 HGNC:6641 01738 186921 REVIEWED 733220 LMNB1 lamin B1 The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. This gene encodes one of the two B type proteins, B1. Alternative splicing results in transcript variants and a duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). [provided by RefSeq, Oct 2010] 5 5 5 q23.2 122068688 122128577 + 126112315 126172712 + 126776623 126837020 + 1580863;6480464;7240710;8699517;8554872 10679189;10806082;10960149;11095689;11331782;11441066;11691994;11790298;11792809;11901153;12135703;12477932;12490158;12670476;12898336;14504265;15161933;15265697;15284226;15635413;16083285;16196087;16216881;16236267;16283426;16344560;16365157;16410549;16543417;17550303;17620012;18334554;18524819;19001169;19141474;19151023;19198602;19322201;19348623;19383719;19454010;19471022;19522540;19727227;19738201;19765186;1986862;19946888;19961535;20004208;20085707;20230530;2023931;20360068;20816241;21139048;21225301;21346760;21549307;21890473;21897860;21906983;21909802;21963094;21988832;22053931;22155925;22178446;22246186;22265972;22268729;22412018;22446626;22496421;22505724;22623428;22658654;22751105;22863883;22939629;23000965;23254330;2325650;23261988;23439683;23475125;23649844;23681646;23733478;23798571;23857605;23874603;23934658;23964094;2406262;24157836;24163370;24244333;24293108;24457600;24501781;24583282;24732130;24816145;25015289;25027693;2544227;7557986;7628545;8034666;8324822;8838815;8978814;9128241;9243284;9305626;9367621;9436978;9490046 4001 B4DZT3;E9PBF6;P20700 ABBA01068886;ABBA01068887;ABBA01068888;AC137794;AK303084;AK312603;AMYH02012150;AMYH02012151;AMYH02012152;AMYH02012153;AMYH02012154;AU134245;AW512433;BC012295;BC052951;BC078178;BC103723;CH471086;L37737;L37738;L37739;L37740;L37741;L37742;L37743;L37744;L37745;L37746;L37747;M34458;NG_008360;NM_001198557;NM_005573 AAA36162;AAC37575;AAH12295;AAH78178;AAI03724;ABM82518;ABW03383;BAG35493;BAG64195;EAW48845;EAW48846;NP_001185486;NP_005564;P20700 Hs.89497 1334968;2109471;2182078 D5S804;LMNB1__6401;SGC33978 ADLD;LMN;LMN2;LMNB;MGC111419 OTTHUMP00000159218;lamin-B1 APPROVED protein-coding ENSG00000113368 HGNC:6637 01036 150340;169500 REVIEWED 6481430 LMO7-AS1 LMO7 antisense RNA 1 100873968 AL137244 APPROVED miscrna HGNC:39885 1313837 LMO4 LIM domain only 4 This gene encodes a cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq, Aug 2008] 1 1 1 p22.3 86039830 86060286 + 87794151 87814606 + 87328468 87348923 + 6480464;6484113 10209267;10556429;11751867;12153047;12477932;12727888;12877980;12878195;12925972;15231748;15489334;15677447;15894532;15897450;16288053;17001033;18231110;18330356;18615156;18950845;19020036;19099607;19111533;19648968;19733838;20526802;20936779;21271214;21362019;21738478;21900206;22906635;23291272;23353824;23407556;23407937;25057208;9736723 8543 P61968 ABBA01045606;ABBA01045607;AC092392;AI962216;AK292578;AMYH02001420;AW162477;BC003600;BC017673;BC065818;BU580860;BU619915;CH471097;NM_006769;U24576;XM_005271291 AAB51073;AAH03600;AAH17673;AAH65818;ABM82373;ABM85552;BAF85267;EAW73168;EAW73169;NP_006760;P61968;XP_005271348 Hs.436792 1646331;1654820;1663715;1797828;2130019;2157908;2165002 Cda02b10;D1S2350;LMO4_2326;SHGC-36220;SHGC-75101;SHGC-75104;SHGC-75105 LMO-4 LIM domain only protein 4;LIM domain transcription factor LMO4;OTTHUMP00000011905;OTTHUMP00000011906;breast tumor autoantigen APPROVED protein-coding ENSG00000143013 HGNC:6644 09122 603129 REVIEWED 1351855 LMO7 LIM domain 7 This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, however, the full-length nature of some variants is not known. [provided by RefSeq, Jan 2009] 13 13 13 q22.2 57092445 57331882 + 76194570 76434006 + 75620434 75859870 + 1580863;6480464;8554872 10048485;10531035;10737800;11935316;12168954;12477932;14702039;15161933;15302935;15324660;15778465;15782160;15840729;16083285;16169070;16192285;16344560;16964243;17067998;17081983;17110338;17620012;17979178;20379614;21139048;21525034;21670154;21980299;21988832;22266860;22939629;23182705;23761726;24255178;24332808;24457600;24816145;25027693;9826547 4008 E9PJ10;E9PK58;E9PLU6;E9PMJ6;E9PMP7;E9PMS6;E9PMT2;E9PRE3;E9PRJ0;F8WD26;H0Y424;H0YDG6;H0YDQ3;H0YE95;J3KP06;Q8WWI1;U3KQE6 AA777749;AB020665;ABBA01021646;ABBA01021647;ABBA01021648;ABBA01021649;ABBA01021650;AF092557;AF144237;AF174600;AF330045;AK055465;AK074265;AK092052;AK304051;AL137121;AL137244;AL137782;AL359392;AMYH02028282;AMYH02028283;AMYH02028284;AMYH02028285;AW805522;BC036428;CH471093;DB064574;DB227898;FJ711162;NM_005358;NM_015842;U90654;XM_005266381;XM_005266383;XM_005266387;XM_005266389;XM_005266391;XM_005266392;XM_005266396;XM_005266397;XM_006719810;XM_006719811;XM_006719812;XM_006719813;XM_006719814;XM_006719815;XM_006719816;XM_006719817;XM_006719818;XM_006719819;XM_006719820;XM_006719821;XM_006719822;XM_006719823;XM_006719824;XM_006719825;XM_006719826 AAB86592;AAC96299;AAC96300;AAD33924;AAF04521;AAI48409;AAL37480;ACV60543;BAA74881;BAH14099;EAW80549;EAW80550;EAW80551;EAW80552;EAW80553;EAW80554;EAW80555;NP_005349;NP_056667;Q8WWI1;XP_005266438;XP_005266440;XP_005266444;XP_005266446;XP_005266448;XP_005266449;XP_005266453;XP_005266454;XP_006719873;XP_006719874;XP_006719875;XP_006719876;XP_006719877;XP_006719878;XP_006719879;XP_006719880;XP_006719881;XP_006719882;XP_006719883;XP_006719884;XP_006719885;XP_006719886;XP_006719887;XP_006719888;XP_006719889 Hs.207631 1648317;1665838;1668740;1688626;1696274;1699540;1703462;1714061;1736358;1738443;1779480;1782806;1797830;1851079;2111626;2111672;2122449;2133492;2133494;2157654;2159633;2189521;2189801;2189817;2189845;2189891;5024543;5109745 173d1FWD;214f7FWD;283a3REV;84b6REV;A001Y22;D13S1096E;D13S1562;D13S1590;D13S822E;D13S823E;D13S836E;D13S867E;D1S3690;G19262;G19783;LMO7_2245;RH103368;RH119461;RH143414;RH98953;SHGC-103001;SHGC-153460;SHGC-82570;SHGC-83668;STS-AA007139;STS-H60823;WI-16413;WI-19625 FBX20;FBXO20;KIAA0858;LMO-7;LOMP F-box only protein 20;F-box protein Fbx20;LIM domain only 7;LIM domain only protein 7;OTTHUMP00000018512;OTTHUMP00000018514;OTTHUMP00000018515;OTTHUMP00000232292;OTTHUMP00000232449;OTTHUMP00000232450;zinc-finger domain-containing protein APPROVED protein-coding ENSG00000136153 HGNC:6646 05078 604362 REVIEWED 8550047 LMO7-AS1 LMO7 antisense RNA 1 13 13 q22.2 76178903 76210178 - 75603489 75635994 - 101927155 ABBA01021646;ABBA01021647;AI816891;AL137244;AMYH02028282;AW188034;BF593247;HG505736;HG505737;NR_120410;NR_120411;NR_120412;XR_245446;XR_247935;XR_253186 Hs.564550 UCHL3-AS1 APPROVED ncrna HGNC:50277 VALIDATED 1316093 LMO2 LIM domain only 2 (rhombotin-like 1) LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008] 11 11 11 p13 34027627 34061421 - 33880122 33913836 - 33858576 33892289 - 1580863;6480464;8554872 10431247;10866689;11069036;11751867;11882901;12067721;12239153;12477932;12609830;12727888;12878195;15146197;15489334;15541480;15761153;16189514;16314316;16407974;16793212;16873670;17038524;17268520;17360939;17437998;17878155;17910069;17964543;17972953;17973255;18079736;18187418;18676680;18763096;18844071;19047678;19141387;19170196;1923511;19278969;19336552;19336746;19375645;19487290;19568416;19573080;19625176;19635185;19671288;19692168;19734545;19773279;20346173;2034676;20519628;2052354;20557670;20660332;20676125;20686118;20697248;20731704;20955387;21045296;21059912;21072044;21076045;21375434;21459790;21502424;21670469;21722313;21890473;21988832;22066713;22394247;22517897;22615488;22776842;22914613;23327922;23708655;23812588;23892628;23897248;24330148;7475267;7568177;7731680;7957052;8078932;8889548;9001422;9129143;9209374;9214632;9391090;9452425;9736723;9819382 4005 P25791 ABBA01060880;ABBA01060881;AC113192;AC132216;AF257211;AMYH02024575;BC034041;BC035607;BC042426;BC073973;BM690599;BM699014;CH471064;CN355348;JC009162;KF510368;NM_001142315;NM_001142316;NM_005574;X61118;XM_005252920;XM_005252921;XM_006718229 AAF98804;AAH34041;AAH35607;AAH42426;AAH73973;ABM83259;ABM86464;CAA43430;CDL93511;EAW68181;EAW68182;NP_001135787;NP_001135788;NP_005565;P25791;XP_005252977;XP_005252978;XP_006718292 Hs.34560 1650554;1737237;1742537;1742553;1774101;1796256;1849609;1857554;2118946;2125870;2136345;2161266;2165159;2182500;5019799 A006O42;A009V44;D11S3104;G17573;G32895;GDB:197859;GDB:197868;LMO2;LMO2_187;RH46496;RH70425;SGC31579;STS-H37799;STS-H90759;WI-22117 LMO-2;RBTN2;RBTNL1;RHOM2;TTG2 LIM domain only protein 2;OTTHUMP00000211640;OTTHUMP00000211641;T-cell translocation gene 2;T-cell translocation protein 2;cysteine-rich protein TTG-2;rhombotin 2;rhombotin-2;rhombotin-like 1 APPROVED protein-coding ENSG00000135363 HGNC:6642 01586 180385 REVIEWED 1316308 LMOD1 leiomodin 1 (smooth muscle) The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008] 1 1 1 q32 174989409 175039451 - 201865584 201915716 - 201896456 201946588 - 1580863;6480464;8554872 10520227;11318603;11350761;12477932;14627618;16344560;16633140;18029348;18676680;19170196;19625176;19692168;19913121;2026759;20628086;22157009;22747683;8811043 25802 P29536 ABBA01027522;ABBA01027523;AC099676;AK126474;AK295824;AK304852;AL513217;AMYH02002483;AMYH02002484;AMYH02002485;AMYH02002486;BC001755;BC080187;CH471067;DB228115;NM_012134;X54162 AAH01755;AAH80187;BAG54332;BAG58641;BAG65591;CAA38101;EAW91380;EAW91381;NP_036266;P29536 Hs.519075 1337218;1664976;1774445;2109473;2160969;2174359 D1S1171;D1S3353;LMOD1_9413;RH48177;RH70834;SHGC-30325 1D;64kD;D1;FLJ55689;SM-LMOD 64 kDa autoantigen 1D;64 kDa autoantigen 1D3;64 kDa autoantigen D1;OTTHUMP00000033948;leimodin 1 (smooth muscle);leiomodin, muscle form;leiomodin-1;smooth muscle leiomodin;thyroid and eye muscle autoantigen D1 (64kD);thyroid-associated ophthalmopathy autoantigen APPROVED protein-coding ENSG00000163431 HGNC:6647 04093 602715 REVIEWED 6901146 LMO7DN LMO7 downstream neighbor 13 13 13 q22.2 57343050 57355824 + 76445174 76457948 + 75871038 75883812 + 14702039 729420 F2Z398 ABBA01021651;AK092698;AL359392;AMYH02028285;NM_001257995 BAC03949;F2Z398;NP_001244924 Hs.586820 1737461;2189819;2189843 214f7REV;283a3FWD;D13S1016 C13orf45 uncharacterized protein C13orf45;uncharacterized protein LOC729420 APPROVED protein-coding ENSG00000178734 HGNC:44370 VALIDATED 1345388 LMPDZ1 LIM and PDZ domains 1 634540 9334352 337938 HGNC:13344 732790 LMNA lamin A/C The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012] 1 1 1 q22 129157453 129182870 + 156052369 156109880 + 156082546 156140089 + 1580514;1580515;1580516;1580530;1624984;1624985;1358482;737720;2306091;2306123;2306122;2306094;2302364;2306095;2306092;2306121;6480464;6907045;7240710;8554872;8699517 10587585;12196663;12524233;12628721;12748643;14607793;15205219;15205220;16117820;16461887;17327437;17327461;17446932;18182166;18926329 10080180;10381623;10508479;10514485;10580070;10655060;10662742;10673356;10727209;10739751;10739764;10806082;10814726;10960149;10984438;10999791;11173535;11231979;11243729;11331782;11344241;11440372;11503164;11532159;11576443;11691994;11709282;11790298;11792809;11792810;11792811;11792821;11799477;11801724;11833462;11836312;11897440;11901143;11929849;11953316;11973618;12015247;12018485;12032588;12057196;12075506;12112001;12138353;12145775;12154369;12163176;12409453;12429849;12467734;12475961;12477932;12534602;12629077;12670476;12673789;12702809;12714972;12718522;12729796;12755701;12768443;12783988;12788894;12844477;12920062;12927431;13129702;14597414;14627682;14644157;14675861;14702039;14759373;14985400;15026149;15032975;15080529;15161933;15184648;15219508;15265697;15284226;15298354;15302935;15317753;15342704;15355978;15372542;15476822;15489334;15527767;15551023;15622532;15635413;15636422;15639119;15668447;15671068;15748902;15793835;15798706;15919811;15961312;15982412;1599464;15998779;16009940;1602151;16061563;16083285;16084085;16126733;16129833;16159877;16169070;16179429;16212417;16218190;16236267;16239243;16246140;16248985;16262891;16266469;16288872;16289535;16344005;16344560;16357800;16371512;16410549;16415973;16452503;16481476;16518869;16565220;16645051;1667585;16697197;16738054;16772334;16779558;16823856;16825283;16916647;16964243;16981056;17069459;17081983;17090536;17097067;17117676;17136397;17150192;17227891;17291448;17301031;17306257;17314511;17327460;17334235;17342744;17352743;17360326;17360355;17428859;17454124;17459035;17469202;17536044;17550303;17573780;17605093;17612587;17620012;17683050;17701980;17711925;17718387;17760566;17848622;17870066;17881656;17893350;17935239;17987279;17994215;18029348;18031308;18035086;18041775;18060063;18077842;18093584;18308323;18311132;18337098;18339564;18348272;18364375;18396274;18442054;18442998;18478590;18497734;18497856;18502446;18524819;18538321;18549403;18551513;18564364;18585512;18604166;18606848;18611980;18612243;18643848;18646565;18654987;18667561;18691775;18714339;18714801;18767923;18795223;18805829;18809582;18816602;18830724;18836436;18843043;18848371;18923140;18946024;18950579;18959190;18982914;19015316;19022376;19084400;19124654;19126678;19141474;19144202;19172989;19201734;19204888;19220582;19247430;19270485;19283854;19318026;19323649;19328042;19351612;19384091;19401371;19424285;19427440;19442658;19446900;19471022;19490114;19524666;19574635;19578796;19589617;19596686;19638735;19644448;19645629;19672032;19680556;19725029;19727227;19734887;19738201;19759913;19768759;19775189;19841875;19850743;19855837;19859838;19875404;19875478;19882644;19913121;19926845;19933576;19938095;19948975;19958786;20000738;20004208;20041886;20045150;20054742;20079404;20092787;20127487;20130076;20147387;20155465;20160190;20301300;20301462;20301468;20301486;20301532;20301582;20301609;20301717;20307303;20309963;20458013;20474083;20485444;20497714;20498703;20501691;20526372;20562859;20581439;20605919;20615561;20618440;20625965;20627339;20628086;20709679;20732854;20819672;20848652;20884875;20886652;20974128;21085127;21098080;21139048;21150319;21151901;21179469;21289091;21311568;21319273;21327074;21327842;21346069;21346760;21350821;21400569;21406687;21439080;21462202;21462476;21486941;21498514;21535365;21596650;21599722;21621406;21627864;21632249;21655223;21670151;21670498;21689390;21693764;21724554;21800051;21818408;21846512;21853274;21875900;21890473;21903150;21906983;21915271;21941106;21945321;21963094;21980471;21982404;21987572;21988832;21993218;22029807;22057372;22065502;22071332;22079058;2209722;22178446;22186027;22199124;22224630;22231515;22266370;22268729;22281253;22301279;22326558;22340368;22412018;22413764;22431096;22505724;22533413;22549407;22555846;22560296;22586326;22623428;22700598;22751105;22773734;22806367;22840390;22863883;22893709;22939629;23000965;23048029;23049808;23062543;23064282;23073275;23183350;23197810;23243001;23313286;23319047;23324461;23328570;23329710;23349452;23383273;23427149;23430973;2344612;23450819;23564641;23582089;23605101;23631840;23659872;23666920;23684604;23701190;23702046;23746545;23788249;23793583;23811080;23831462;23846499;23850366;23861385;23874603;23912926;23923041;23977161;23990565;24001739;24034385;24037902;24040437;24041693;2406262;24067370;24080738;24101728;24211782;24244333;24293108;24294364;24315443;24349489;24457600;24583282;24592738;24816145;25015289;25027693;2544227;3403563;3453101;3462705;7628545;7925482;7951328;8058329;8278403;8324822;8344919;8477740;8511676;8621584;8838815;8889548;8978814;9030603;9106535;9243284;9274531;9367621;9436978;9563518 4000 D6RB20;H0YAB0;P02545;Q5TCI8 AA558657;ABBA01016670;ABBA01016671;AF381029;AI872233;AK026584;AK056143;AK056191;AK057997;AK097801;AK098128;AK122732;AK130179;AK294217;AK295390;AK309539;AL135927;AL355388;AL356734;AMYH02001962;AMYH02001963;AMYH02001964;AY357727;AY528714;AY847595;AY847596;AY847597;BC000511;BC003162;BC014507;BC018863;BC033088;BG822820;BU685425;BU732343;CB854404;CH471121;DA421696;DA551594;DB270595;DC400775;HY027676;L12399;M13451;M13452;NG_008692;NM_001257374;NM_001282624;NM_001282625;NM_001282626;NM_005572;NM_170707;NM_170708;X03444;X03445 AAA36160;AAA36164;AAH00511;AAH03162;AAH14507;AAH33088;AAK59326;AAR29466;AAW32538;AAW32539;AAW32540;ABB04050;ACE86595;ACE86831;ACE87276;ACE87517;BAG57524;BAG58344;CAA27173;CAA27174;EAW52996;EAW52997;EAW52998;EAW52999;EAW53000;NP_001244303;NP_001269553;NP_001269554;NP_001269555;NP_005563;NP_733821;NP_733822;P02545 Hs.594444;Hs.706897;Hs.733671 1768328;1792912;1792914;1792916;1792918;1792920;1792922;1796254;2155758;2162853 D20S1027;G15913;LMNA_902;PMC169171P1;PMC169171P2;PMC169171P3;PMC169171P4;PMC169171P5;PMC169171P6;RH69068 CDCD1;CDDC;CMD1A;CMT2B1;EMD2;FPL;FPLD;FPLD2;HGPS;IDC;LDP1;LFP;LGMD1B;LMN1;LMNC;LMNL1;PRO1 70 kDa lamin;OTTHUMP00000015843;OTTHUMP00000015845;OTTHUMP00000015846;OTTHUMP00000015847;OTTHUMP00000015848;OTTHUMP00000217835;lamin;lamin A/C-like 1;lamin a;lamin-A/C;prelamin-A/C;renal carcinoma antigen NY-REN-32 2289451;2315765;2315816 BW299_H;GLUCO149_H;GLUCO177_H APPROVED protein-coding ENSG00000160789 HGNC:6636 01035 115200;150330;151660;159001;176670;181350;212112;248370;275210;605588;610140;613205 REVIEWED 1346701 LMO3 LIM domain only 3 (rhombotin-like 2) The protein encoded by this gene belongs to the rhombotin family of cysteine-rich LIM domain oncogenes. This gene is predominantly expressed in the brain. Related family members, LMO1 and LMO2 on chromosome 11, have been reported to be involved in chromosomal translocations in T-cell leukemia. Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] 12 12 12 p12.3 21845084 21904807 - 16701306 16761148 - 16548372 16610130 - 6480464 11489251;12477932;14702039;1507224;15489334;15930276;16189514;16344560;16713569;18330356;19995558;21573214;22011669;23322301;23823477 55885 C9JE61;F5GYZ6;F5GZR3;F5H2N9;F5H3S4;F5H4K9;F5H4T0;F5H655;F6TDU8;Q05D86;Q8TAP4;Q9NYC6 AB044745;AB044746;ABBA01067907;AC007529;AC007552;AF258348;AK095595;AK294474;AK294909;AK308594;AK308826;AK308896;AK312418;AK316021;AL050152;AL050188;AMYH02026107;AMYH02026108;AMYH02026109;BC017777;BC026311;BC050085;BG714670;BI553855;BQ029059;CH471094;DA780743;DC318689;DC324870;KF455616;M64358;NG_029785;NM_001001395;NM_001243609;NM_001243610;NM_001243611;NM_001243612;NM_001243613;NM_018640;NR_045012;NR_045013;NR_045014;XM_006719110;XM_006719111 AAF71368;AAH17777;AAH26311;AAH50085;ABZ92403;BAC04582;BAD93349;BAD93350;BAG35328;BAG57701;BAG57996;BAH14392;EAW96370;EAW96371;EAW96372;EAW96373;EAW96374;EAW96375;EAW96376;EAW96377;NP_001001395;NP_001230538;NP_001230539;NP_001230540;NP_001230541;NP_001230542;NP_061110;Q8TAP4;XP_006719173;XP_006719174 Hs.504908 1651929;1684082;1726029;1731865;1742885;1772030;1772032;1778603;2177948;2179151 A002A33;BCD1517;D12S383E;G19860;G62377;GDB:214810;RH1605;RH66254;RH91802;SHGC-30138 DAT1;LMO-3;MGC26081;RBTN3;RBTNL2;RHOM3;Rhom-3 LIM domain only protein 3;OTTHUMP00000239576;OTTHUMP00000239577;OTTHUMP00000239578;OTTHUMP00000239582;OTTHUMP00000239583;OTTHUMP00000239584;OTTHUMP00000239586;OTTHUMP00000239589;OTTHUMP00000239592;OTTHUMP00000239593;OTTHUMP00000239594;OTTHUMP00000239596;neuronal specific transcription factor DAT1;neuronal-specific transcription factor DAT1;rhombotin-3;rhombotin-like 2 APPROVED protein-coding ENSG00000048540 HGNC:6643 11832 180386 REVIEWED 1315801 LMTK2 lemur tyrosine kinase 2 The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009] 7 7 7 q21.3 92430124 92532844 + 97736197 97838945 + 98106885 98209633 + 1580863;6480464;8554872 10470851;12393858;12477932;12690205;12832520;12853948;14702039;15005709;16428298;16887929;17081983;18029400;18264097;18429820;18794092;19318432;19366831;19423541;19549807;19767753;19855435;19866473;19900942;19902474;20450899;20460480;20564319;20569440;20878950;21071540;21382349;21906983;22220831;23080069;23114966 22853 Q8IWU2 AB029002;ABBA01045735;ABBA01045736;ABBA01045737;AC073101;AC091654;AK128506;AMYH02016321;AW183515;AY130988;BC080576;BC131504;BC146773;BE049530;BF001752;BM172505;CH236956;CH471091;CS542494;NG_013375;NM_014916 AAI31505;AAI67828;AAN08717;AAS07515;BAA83031;CAM91184;EAL23894;EAW76719;EAW76720;EAW76721;NP_055731;Q8IWU2 Hs.444179 1336691;1658245;1700626;1723541;1766269;2127531;2175806;5014063 A004H27;D12S335;D15S1390;RH103935;RH118588;RH46467;SGC33213;SHGC-149626 AATYK2;BREK;FLJ46659;KIAA1079;KPI-2;KPI2;LMR2;PPP1R100;cprk;hBREK CDK5/p35-regulated kinase;OTTHUMP00000205379;apoptosis-associated tyrosine kinase 2;brain-enriched kinase;cyclin-dependent kinase 5/p35-regulated kinase;kinase phosphatase inhibitor 2;kinase/phosphatase/inhibitor 2;serine/threonine-protein kinase KPI-2;serine/threonine-protein kinase LMTK2 APPROVED protein-coding ENSG00000164715 HGNC:17880 13994 610989 REVIEWED 1603238 LMOD2 leiomodin 2 (cardiac) ENCODES a protein that exhibits actin binding (inferred); tropomyosin binding (inferred); FOUND IN cytoskeleton (inferred); INTERACTS WITH valproic acid; cadmium dichloride (ortholog); orphenadrine (ortholog) 7 7 7 q31.32 118099608 118107893 + 123295861 123304147 + 123655807 123664093 + 6480464 11318603;12477932;12690205;16633140;18403713;9847074 442721 C9J8F4;Q6P5Q4 ABBA01057729;AC006333;AK299389;AK299434;AK300698;AMYH02016682;AMYH02016683;BC017911;BC062765;CH236947;DC385641;NM_207163 AAH17911;AAH62765;BAG61374;BAG61412;BAG62379;EAL24335;NP_997046;Q6P5Q4 Hs.592260 2168418 D7S2043E C-LMOD OTTHUMP00000211996;cardiac leiomodin;leiomodin-2 protein-coding ENSG00000170807 HGNC:6648 608006 VALIDATED 1345352 LMX1B LIM homeobox transcription factor 1, beta This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 9 9 9 q33.3 100030360 100115686 + 129376722 129463311 + 126614443 126701032 + 1599750;1599751;1580863;6480464;7240710;8554872;8699517 15498463;9590287 10571942;10767331;10854116;11668639;11956244;11956245;11978876;12477932;12646768;12792813;12819019;15638822;15928687;17207965;17515884;17710881;17728669;17905480;18414507;18562181;18595794;18634531;18952915;18996370;19189040;19562271;19721866;20211142;20301311;20531206;20570600;20583170;20634891;20643727;20935630;21184584;21246047;21832049;21850167;21901133;23046462;23687361;9199284;9441763;9590288;9618165;9837817 4010 B7ZLH2;O60663;Q6ISE0 ABBA01043813;ABBA01043814;AF057135;AF059575;AL161731;AL161908;AMYH02021668;AMYH02021669;AMYH02021670;BC069588;BC069601;BC112120;BC113491;BC143801;CH471090;EL952935;HG502432;NG_017039;NM_001174146;NM_001174147;NM_002316;U77457 AAC13544;AAC27294;AAC39738;AAH69588;AAH69601;AAI12121;AAI13492;AAI43802;ADQ31979;ADR82982;EAW87641;EAW87642;NP_001167617;NP_001167618;NP_002307;O60663 Hs.129133 1729875;1758043;5024756 D9S112;RH80030;SHGC-147195 LMX1.2;MGC138325;MGC142051;NPS1;RP11-489N22.3 LIM homeobox transcription factor 1-beta;LIM/homeobox protein 1.2;LIM/homeobox protein LMX1B;LMX-1.2;OTTHUMP00000022153;OTTHUMP00000022154 APPROVED protein-coding ENSG00000136944 HGNC:6654 03986 161200;602575 REVIEWED 1603025 LMOD3 leiomodin 3 (fetal) ENCODES a protein that exhibits tropomyosin binding (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH isoprenaline (ortholog); paracetamol (ortholog); titanium dioxide (ortholog) 3 3 3 p14.1 69084149 69099857 - 69156039 69171746 - 69106888 69122595 - 6480464 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16381901;16633140;22881374;24960163 56203 Q0VAK6 ABBA01030898;ABBA01030899;AC092060;AK057852;AK096900;AK300096;AL832033;AL832709;AMYH02007014;BC017925;BC039202;BC121019;CH471055;NM_198271;XM_005264767 AAH39202;AAI21020;BAB71596;BAG61897;CAI46110;CAL38080;EAW65471;EAW65472;NP_938012;Q0VAK6;XP_005264824 Hs.350621 1688520;1715169;1735122;1735128;1735172;1856635;2142954;2147403;5015961;5020740;5022450;5022578;5024413;5037552 Bdy39e03;D10S275;D15S1477;D1S1423;D3S2766E;D3S2792E;D3S2794E;D3S2820E;D8S2279;L17809;L17877;RH119835;RH92403;SHGC-13209 DKFZp313F0135 OTTHUMP00000213436;OTTHUMP00000213437;OTTHUMP00000213438;leiomodin, fetal form;leiomodin-3 protein-coding ENSG00000163380 HGNC:6649 13993 VALIDATED 1312426 LMX1A LIM homeobox transcription factor 1, alpha This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 1 1 1 q24.1 138276288 138431140 - 165171104 165325952 - 165201867 165356715 - 6480464;8554872 12062816;12477932;1358758;14702039;15183721;15188402;16710414;18832589;19064610;19189040;19536175;20379614;20570600;21159062;21177773;21435346;21624811;22882568;23165334;24018208;7698771;8889548;9199284;9315627;9441763;9452425 4009 Q6NZ39;Q8TE12 ABBA01047282;ABBA01047283;AK122800;AK127724;AL160058;AL390730;AL590112;AMYH02002064;AY078391;AY078392;AY078393;AY078394;AY078395;AY078396;AY078397;AY078398;BC066353;BC119743;BC119744;BM678780;CH471067;CS406131;NM_001174069;NM_177398;XM_006711319 AAH66353;AAI19744;AAI19745;AAI60062;AAL82892;AAL82893;ADZ15611;BAG54558;CAL40521;EAW90743;EAW90744;NP_001167540;NP_796372;Q8TE12;XP_006711382 Hs.667312 1340776;1660770;1754749;1763257;1781696;1852869;2108813;2182243;7187477 AL009664;AL009921;D1S2453;D1S426;LMX1A_7814;SHGC-133109;SHGC-146985;SHGC-155128 LMX-1;LMX1;LMX1.1;MGC87616 LIM homeobox transcription factor 1-alpha;LIM/homeobox protein 1.1;OTTHUMP00000032530;OTTHUMP00000032531;OTTHUMP00000032532 1643243;2314796;2314802;2315058;2316879 BW132_H;GLUCO118_H;GLUCO121_H;GLUCO133_H;GLUCO304_H APPROVED protein-coding ENSG00000162761 HGNC:6653 02623 600298 VALIDATED 6481404 LNX1-AS1 LNX1 antisense RNA 1 4 4 54366244 54389441 + 53500077 53523274 + 100873939 AA405946;ABBA01003392;AC058822;AMYH02009220;AMYH02009221;BX103714;HG496896;NR_046622 Hs.662372 RP11-809N18.1 APPROVED ncrna ENSG00000250930 HGNC:40345 VALIDATED 6481420 LNX1-AS2 LNX1 antisense RNA 2 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 54459123 54471549 + 53592956 53605382 + 8554872 100873955 ABBA01003392;ABBA01003393;AC095040;AI298794;AMYH02009221;CA941543;CB046063;NR_046827 Hs.351074 APPROVED ncrna HGNC:41450 VALIDATED 1317771 LNX1 ligand of numb-protein X 1, E3 ubiquitin protein ligase This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q12 51823913 51955241 - 54326437 54518653 - 53460270 53652484 - 1580863;6480464;6484113;8554872 11521506;11782429;11922143;12468544;12477932;12975309;14702039;14990566;15010864;15367597;15489334;16002321;16122940;16189514;16324299;16344560;16713569;16832352;17504929;17936276;18029348;18940473;19132087;19701800;20379614;20864041;21104141;21832049;21988832;22045731;22066909;22087225;22889411;22939624;23455924;23718855;23725790;24722188;9535908 84708 D6RAH9;D6RB76;D6RE08;Q8TBB1 ABBA01003391;ABBA01003392;AC058822;AC095040;AC124017;AF237782;AK056823;AK294611;AMYH02009220;AMYH02009221;AY358326;BC022983;BC034737;BC094772;CH471057;DA154083;DA625539;DA854815;DA874715;DB159390;NM_001126328;NM_032622;XM_005265785;XM_005265786 AAH22983;AAH34737;AAK15039;AAQ88692;AAY41000;ABM84910;BAB71291;BAG57796;EAX05450;EAX05451;NP_001119800;NP_116011;Q8TBB1;XP_005265842;XP_005265843 Hs.518760 1647447;1665184;1705294;1718559;1735412;1739979;1775816;1848995;1848997;1853696;2122130;2177814 A001V35;A006X48;D4S2583E;D4S2783;D4S2897;G19694;RH122481;SHGC-59803;SHGC-67415;SHGC-67779;SHGC-78604;STS-R85294 LNX;MPDZ;PDZRN2 E3 ubiquitin-protein ligase LNX;OTTHUMP00000128293;OTTHUMP00000128294;PDZ domain-containing ring finger protein 2;ligand of numb-protein x;multi-PDZ-domain-containing protein, E3 ubiquitin-protein ligase LNX;numb-binding protein 1 APPROVED protein-coding ENSG00000072201 HGNC:6657 17287 609732 REVIEWED 2291790 LNP1 leukemia NUP98 fusion partner 1 INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; quercetin 3 3 3 q12.2 98510896 98566085 + 100120037 100175170 + 100401193 100456326 + 6480464 12477932;14702039;16467868;23503679 348801 A1A4G5;C9J587;F8WF60 ABBA01061788;ABBA01061789;AC093003;AC128693;AC139015;AK056320;AMYH02007303;AW295433;BC040562;BC067886;BC126362;BC130480;BC144031;CH471052;NM_001085451 A1A4G5;AAI26363;AAI30481;AAI44032;ADR82843;BAG51675;EAW79821;NP_001078920 Hs.591294 1338683;1683894;2112604;2151076;2163033 D3S1544;D3S4364;RH94012;SHGC-77150;STS-Z41110 NP3 OTTHUMP00000214040;OTTHUMP00000214042 protein-coding ENSG00000206535 HGNC:28014 VALIDATED 2303665 LOC100132055 uncharacterized LOC100132055 9 141139782 141149322 + 14702039;15616553 100132055 P0CG43 XR_159005 Hs.646087 5016478 GDB:434012 DKFZp434B2016;FLJ35239 Putative protein FAM157C;family with sequence similarity 157, member C;hypothetical protein LOC100132055 APPROVED ncrna 1350995 LOC100509857 keratin 8 pseudogene 4 8 8 90424742 90427300 - 89412513 89415071 - 100509857;399552 ABBA01037393;AC099816;AMYH02018386 APPROVED pseudo HGNC:31057 MODEL 1343699 LOC100499484-C9ORF174 LOC100499484-C9orf174 readthrough This locus represents a set of read-through transcripts spanning an upstream pseudogene (GeneID:100499484) extending into a downstream protein-coding locus (GeneID:100499483). All of the read-through transcripts are candidates for nonsense-mediated decay (NMD), so they are not thought to express a protein. [provided by RefSeq, Aug 2010] 9 9 9 q22.33 70515062 70653930 + 100000708 100139577 + 97238426 97377295 + 737633;8554872 12477932 10819331;14702039;18978678 57653 ABBA01042933;ABBA01042934;ABBA01042935;ABBA01042936;AL590705;AMYH02021305;AMYH02021306;AMYH02021307;KF458933;KF459923;NR_036527;NR_036528;NR_036529 Hs.435629 1656944;1696086;1726665;1780008;2177163;2185722;5112283 G62568;RH103003;SHGC-14478;SHGC-154259;SHGC-32460;SHGC-54269;SHGC-79118 BDAG1;DKFZp434I2420;DKFZp686G1725;KIAA1529;MGC131724;RP11-23J9.1 Behcet's Disease Associated Gene 1;OTTHUMP00000021741;hypothetical protein LOC57653 APPROVED ncrna 11152 VALIDATED 1606475 LOC113386 similar to envelope protein q13.43 12477932;14702039;8889548 113386 Q6ZRD3;Q96A10 AC010642;AC020915;AK054868;AK126673;AK128311;BC010118;BC011670;BM680245;CH471135;NM_138781 AAH11670;BAC86638;BAC87378;EAW72571;NP_620136;Q6ZRD3;Q96A10 Hs.435404 FLJ44718;FLJ46452 protein-coding 14001 1351306 LMTK3 lemur tyrosine kinase 3 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN negative regulation of phosphatase activity; FOUND IN integral component of membrane (inferred); INTERACTS WITH disodium selenite; lead(0); lead(2+) 19 19 19 q13.33 45853763 45881680 - 48988528 49016446 - 48485271 48513189 - 1580863;6480464 11572484;12477932;15489334;16169070;19389623;21602804;21671015;22869149;23918832;24050776;24174317 114783 Q96Q04 AB067470;ABBA01032988;ABBA01032989;ABBA01032990;AC008403;AMYH02036299;AMYH02036300;BC036690;NM_001080434;XM_006722995 AAH36690;BAB67776;NP_001073903;Q96Q04;XP_006723058 Hs.207426 2137325 RH66744 KIAA1883;LMR3;PPP1R101;TYKLM3 serine/threonine-protein kinase LMTK3 protein-coding ENSG00000142235 HGNC:19295 PROVISIONAL 1605866 LOC149950 uncharacterized LOC149950 20 20 20 q11.21 27931271 27952683 + 31175281 31196695 + 32587479 32608893 + 12477932 149950 Q5W150 ABBA01019260;AL133343;AMYH02036931;BC111383;BC130462;BC130464;LN608753;NR_034152 AAI11384;AAI30463;AAI30465;Q5W150 Hs.516980 1342234;1644363;1693368;1759451;2154982 AL034493;D20S739;D20S843;G18079;SHGC-150945 MGC163334;MGC163336 APPROVED ncrna ENSG00000204393 17304 VALIDATED 3516327 LOC100289279 contactin associated protein-like 3-like 9 9 p13.1 39654254 39655518 - 61330592 61453108 + 16344560 100289279 AMYH02019762;AMYH02019763;BX088645;DA717841;FP700059 Hs.571598 APPROVED protein-coding MODEL 2292117 LOC153684 uncharacterized LOC153684 5 5 5 p12 42931353 42934488 + 43042236 43045370 + 43042134 43045268 + 12477932;14702039 153684 Q6ZVW3 ABBA01024244;AC025171;AK002146;AK123995;AMYH02011231;AMYH02011232;BC101382;BC101383;BC101384;BC101385;NR_015447 BAC85747 Hs.259625 MGC120598 APPROVED ncrna ENSG00000215068 14101 PREDICTED 1606684 LOC200383 similar to Dynein heavy chain at 16F ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); microtubule-based movement (inferred); FOUND IN axonemal dynein complex (inferred); microtubule (inferred) p11.2 6480464 11214970;12477932 200383 AB051484;AB290165;AC010087;AC098975;AK027182;AL512706;BC015442;BC117259 AAH15442;AAI17260;AAX93108;AAX93115;BAB15685;BAB21788;BAG06719;CAC21651;Q9C0G6 Hs.249972 KIAA1697 protein-coding 11244 1606139 LOC155060 AI894139 pseudogene 7 7 7 q36.1 143660372 143663585 + 148982372 148994403 + 149285281 149297312 + 6480464 11181995;12477932;14702039;8619474;9110174;9847074 155060 ABBA01033629;AC004890;AF035281;AK094035;AK095676;AK098351;AK303492;AK310396;AK310453;AK310680;AL832862;AMYH02017045;BC035824;CH471146;NR_036573 BAG64526;EAW80051 Hs.490512 1774922;2169477;5015861;5024756 A005V39;D10S16;RH80030;WI-18584 DKFZp667J212;DKFZp762P2111;FLJ12914;FLJ16713;FLJ17438;FLJ17495;FLJ17722;FLJ25485;FLJ36716;FLJ38357;FLJ61016;MGC149135 OTTHUMP00000213758;OTTHUMP00000213761;protein ZNF783;zinc finger family member 783;zinc finger protein 783 APPROVED pseudo ENSG00000244560 17309 PROVISIONAL 1344222 LOC2748 glutamate dehydrogenase 1 pseudogene 10 10 q11.2 47248344 47248741 + 47558349 47558750 + 2364112;8111403;8244384;8486350 2748 AC245513;AL391137;AL603922;NG_001128;X73122 APPROVED pseudo INFERRED 1604504 LOC220686 hypothetical protein LOC220686 q11.21 12107411;12477932;16189514;7566098 220686 Q6ZT68;Q8WUK7 AA300351;AA425488;AK126860;AP000557;BC020225;BQ638971;BX407261;BX452846;NM_199283 AAH20225;BAC86726;NP_954977;Q6ZT68;Q8WUK7 Hs.448225 protein-coding 14133 732137 LNPEP leucyl/cystinyl aminopeptidase This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 5 5 5 q15 92155866 92249526 + 96271346 96365115 + 96935642 97029411 + 1581849;1581864;1580863;2302393;2306436;2314919;2314923;2311543;1582109;2314920;2314921;2311542;2314922;2314924;6480464;6484113;6907045 10508127;11701721;12591177;15218296;15491750;15687842;15907336;16619500;16967782;17692401;17717074;1789335;7446622 10448104;10759854;10985965;10988299;11389728;11516173;11517297;11707427;11802774;11857741;12080061;12137746;12477932;12569180;12677009;12700100;12871575;14527672;14702039;15187412;15231748;15691326;15894523;16054015;16113565;16136012;17059388;1731608;17373876;17391061;17897319;17999179;18398343;18502721;18713752;18996364;19071192;19498108;19578876;19946888;20150869;20304486;20592285;21314638;21330387;21348480;22268729;22505724;22863883;23128233;23500679;23889750;23897274;3898693;5953194;8550619;9013800;9177475;9733056 4012 Q9UIQ6 AB208883;ABBA01069224;ABBA01069225;ABBA01069226;AC008850;AC008865;AJ131023;AJ131025;AK096804;AK314226;AMYH02011834;AMYH02011835;BC028692;BC111718;BC113117;BG622952;BQ923659;CH471084;D50810;KC877052;KF457949;NM_005575;NM_175920;U62768;U62769 AAB66672;AAB66673;AAI60010;BAA09436;BAD92120;BAG36898;CAB61646;CAB94753;EAW96084;NP_005566;NP_787116;Q9UIQ6 Hs.527199;Hs.656905 1657592;1671806;1682509;1690412;1697778;1707802;1719657;1722117;1727751;1735504;1847713;1849327;1854791;2163820;5493141 D5S1627E;D5S1849;D5S2387;G60101;G63141;RH102413;RH123520;RH93950;RH98440;SGC38194;SHGC-36280;SHGC-82127;UniSTS:484431;WI-11346;WI-14824 CAP;IRAP;P-LAP;PLAP AT (4) receptor;OTTHUMP00000158907;OTTHUMP00000196800;aminopeptidase vp165;angiotensin IV receptor;cystinyl aminopeptidase;insulin-regulated aminopeptidase;insulin-regulated membrane aminopeptidase;insulin-responsive aminopeptidase;leucyl-cystinyl aminopeptidase;otase;oxytocinase;placental leucine aminopeptidase;vasopressinase APPROVED protein-coding ENSG00000113441 HGNC:6656 01041;08255 151300 REVIEWED 1605829 LOC283874 hypothetical protein LOC283874 ENCODES a protein that exhibits structural molecule activity (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); viral envelope (inferred) p13.3 12477932;14702039 283874 Q6ZMS2;Q9NX77 AC092117;AC141586;AK000400;AK091794;AK095440;AK097014;AK097909;AK131509;AX747190;BC043252;BX335435;NM_001012731 BAA91140;BAD18653;NP_001012749;Q6ZMS2;Q9NX77 Hs.647398 FLJ20393 protein-coding 13785 2303841 LOC284837 uncharacterized LOC284837 21 21 21 q22.3 30331233 30338042 - 45225639 45232448 - 43805758 43812567 - 12477932;14702039 284837 Q6ZR03;Q8N4G5 ABBA01074141;AK093410;AK128598;AMYH02037899;AP001053;BC031911;BC034348;BC111558;NR_026961 AAH34348;BAC87522;Q6ZR03 Hs.592159 MGC133248 APPROVED ncrna ENSG00000215458 11256 PREDICTED 1603157 LOC284912 hypothetical gene supported by BC001801 q12.3 12477932 284912 Q9BUY1 AL049747;BC001801;BG471420;CH471095;NM_203375 AAH01801;EAW60068;NP_976309;Q9BUY1 Hs.306978 MGC3170 protein-coding 14155 1642829 LOC285299 FSHD region gene 2 family, member C-like 3 p12.3 76457223 76460104 + 15520407;16641997 285299 AL592170;XM_003119203 XP_003119251 FRG2C protein-coding 1606111 LOC285074 anaphase promoting complex subunit 1 pseudogene 2 2 2 p11.2 86775306 86796062 + 87257798 87303536 - 87030675 87076413 - 6480464 12477932;14702039;21906983 285074 ABBA01007171;ABBA01115667;AC092651;AC125232;AK057663;AMYH02004216;AMYH02004217;BC069048;BC132791;BC132793;BM454994;BX353812;NR_026846 AAH69048 Hs.424184 1775201;5020110;5106944;5110561 RH78790;SGC33166;SHGC-142614;SHGC-35119 pseudo 17345 VALIDATED 1601921 LOC285766 uncharacterized LOC285766 6 6 p25.3 181466 205484 - 181466 205484 - 14702039 285766 ABBA01026865;AC243946;AK097546;AL035696;AMYH02012954;HG498880;NR_126020;XR_241953;XR_249924;XR_251940 Hs.657946 APPROVED ncrna ENSG00000263667 17346 VALIDATED 5686982 LOC284581 uncharacterized LOC284581 FOUND IN integral component of membrane (inferred) 1 1 q32.1 205831207 205865215 + 205862079 205896087 + 14702039 284581 Q8N9I1 ABBA01027402;AK055746;AK094426;AK096315;AL713965;AMYH02002551;NR_046097;NR_046098 Q8N9I1 1685812 RH80179 FLJ37107 ncrna 17338 VALIDATED 1605252 LOC284009 uncharacterized LOC284009 17 17 17 p13.3 2326392 2334827 - 2310275 2318730 - 2406981 2415436 - 12477932;14702039 284009 Q4G0H6 ABBA01054704;ABBA01054705;AC006435;AK093990;AMYH02032773;BC093711;BC112034;CH471108;NR_028335 AAH93711;AAI12035;EAW90540 Hs.632244 1734444;1734464;1736638;2120390;2123539;5015861;5015961;5022322;7185938 D10S16;D11S2560;D15S1477;D17S1413E;D17S1430E;D17S1478E;RH48658;WI-13902 MGC138239 APPROVED ncrna 18767 PREDICTED 1317872 LNX2 ligand of numb-protein X 2 ENCODES a protein that exhibits PDZ domain binding (inferred); zinc ion binding (inferred); INVOLVED IN protein homooligomerization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; ethyl methanesulfonate; formaldehyde 13 13 13 q12.2 9188676 9263351 - 28120048 28194720 - 27545911 27620583 - 1580863;6480464;8554872 11782429;11922143;12477932;14702039;15057823;15489334;16344560;16832352;18187620;19549727;21139048;21471979;22045731;22066909;22087225;22493164;22889411;23000965;23088713;23105109;23319804;24255178;24483146 222484 Q8N448 ABBA01035744;AK022995;AK095319;AK313394;AL136439;AL138699;AMYH02027755;AMYH02027756;BC036755;CH471075;DB220129;DN990012;NM_153371;XM_006719776 AAH36755;BAG36192;EAX08413;EAX08414;NP_699202;Q8N448;XP_006719839 Hs.132359 1681332;1737317;1737339;1774825;2185961;5022651;5037552 D11S2921;D13S924;D13S936;D8S2279;RH91737;SHGC-24292;STS-AA018927 FLJ12933;FLJ23932;FLJ38000;MGC46315;PDZRN1 OTTHUMP00000018170;PDZ domain containing ring finger 1;PDZ domain-containing RING finger protein 1;ligand of Numb protein X 2;numb-binding protein 2 protein-coding ENSG00000139517 HGNC:20421 10042 609733 VALIDATED 1605544 LOC286526 Ras-like GTPase-like ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN protein transport (inferred); protein ubiquitination (inferred); small GTPase mediated signal transduction (inferred); FOUND IN cytoplasm; mitochondrion q22.1 12076535;12477932;15489334;15772651 286526 P0C0E4 BC101169;BC101170;BC101171;BC101172;NM_001031834;Z95624 AAI01170;AAI01171;AAI01172;AAI01173;CAB09136;NP_001027004;P0C0E4 Hs.449517 MGC119958;MGC119959;MGC119960;MGC119961;RAR2 protein-coding 18778 4108202 LOC154872 putative uncharacterized protein LOC154872 7 7 7 q31.33 119222597 119236115 - 124417346 124430864 - 124777292 124790810 - 12477932 154872 A4D0Y5 ABBA01057711;AC004925;AMYH02016689;AMYH02016690;BC130600;BC130604;CH236947;CH471070;LN608161;NM_001024603 A4D0Y5;EAL24324;EAW83614;NP_001019774 Hs.444163 1852498 D7S1757 hypothetical protein LOC154872;uncharacterized protein LOC154872 APPROVED protein-coding ENSG00000275356 18562 PREDICTED 1604172 LOC339059 uncharacterized LOC339059 16 q24.3 88742767 88745748 + 12477932;14702039 339059 Q2NKK6;Q8N7R2 ABBA01015847;AC138028;AK097767;AMYH02032643;BC111769;HG508485;HG508486;NR_120387;XR_109339;XR_111613;XR_172181 AAI11770;BAC05165 Hs.449817 MGC133175 APPROVED ncrna ENSG00000182376 08282 VALIDATED 8663022 LOC387720 uncharacterized LOC387720 10 10 10 q26.2 123204597 123207034 - 129532832 129535539 - 127734568 127737275 - 12477932 387720 ABBA01009089;AK127642;AL391005;AMYH02024021;BC132942;BC132944;CH471066;XR_109027;XR_111130;XR_171874 BAC87069;EAW49193 Hs.527750 ncrna ENSG00000279725 18373 MODEL 2903113 LOC286453 chondroitin sulfate N-acetylgalactosaminyltransferase 2 pseudogene X X X q22.1 100730380 100731324 + 100211582 100212525 + 100956593 100957536 + 286453 ABBA01064111;AMYH02040061;NG_021119;Z97985 1690109;2177862 DXS9781;RH93061 APPROVED pseudo 18368 INFERRED 1601686 LOC388692 uncharacterized LOC388692 1 1 q21.2 149279476 149291742 + 143784836 143797107 + 12477932;14702039 388692 Q6ZVI0 AC239800;AK023642;AK123662;AK124550;AL356957;BC082253;BC127704;BC141801;NR_027002;NR_111933 BAC85672;BAC85881 Hs.271249 1679015;1688510;1693066;2114696;5024039;5111715;5123998;5124497 AL033619;AL034259;D16S325;G34711;RH27224;RH28693;RH47790;RH79070 FLJ13580;FLJ42559 APPROVED ncrna 18386 VALIDATED 2305921 LOC285696 uncharacterized LOC285696 ASSOCIATED WITH Lung Neoplasms (inferred) 5 5 5 p15.1 17155547 17242953 - 17118900 17217531 - 17130028 17217422 - 8554872 12477932;14702039;19668339;23092984 285696 Q8NB94 ABBA01020689;ABBA01020690;ABBA01020691;AC026790;AC091878;AK091366;AK125192;AMYH02010940;AMYH02010941;AMYH02010942;AMYH02010943;AMYH02010944;BC093861;BC093887;CH471102;HG497795;NR_027253 BAC03647;BAG54162;EAX08014 Hs.646924 1785556;2126205;5493331 G16902;SHGC-154910;UniSTS:485733 AC091878.1;FLJ34047;FLJ43202 APPROVED ncrna ENSG00000215196 08169 PREDICTED 1603239 LOC388882 uncharacterized LOC388882 22 22 22 q11.23 7619209 7644118 - 23804477 23829167 - 23469834 23481608 - 12477932 388882 Q8N402 AA868867;ABBA01055111;AMYH02038125;AP000344;AP000345;BC036910;HG512075;NR_110539;XR_425335;XR_430425;XR_430475;XR_430819;XR_430820;XR_433734 AAH36910;Q8N402 Hs.542766 1684920 RH80328 APPROVED ncrna 14207 VALIDATED 1603149 LOC388915 hypothetical LOC388915 q13.31 388915 Q5R3S2 CH471138;NM_001010902;Z78421 CAI18780;EAW73458;NP_001010902;Q5R3S2 Hs.405993 protein-coding 17377 1601792 LOC389832 similar to chromosome 2 open reading frame 27 389832 AK124122;CR382287;NM_001013654;XM_001133346 BAC85780;NP_001013676;Q6ZVT1;XP_001133346 Hs.613108 protein-coding 18615 1602624 LOC389286 similar to FKSG62 q33.1 389286 Q9BXE7;Q9BZ55;Q9BZ61 AF338197;AL161656;NM_001018022 AAK08113;NP_001018022;Q9BXE7;Q9BZ55;Q9BZ61 FKSG69 protein-coding 18613 1602037 LOC389607 hypothetical gene supported by AK128318 p23.3 389607 Q6ZRD0 AC090691;AK128318;NM_001013651 BAC87382;NP_001013673;Q6ZRD0 Hs.679027 protein-coding 18394 1603469 LOC389936 similar to proline-rich proteoglycan 2 p14 389936 Q6ZMV0 AK131480;AL355591;NM_001013656 BAD18625;NP_001013678;Q6ZMV0 Hs.532673 protein-coding 18399 1601791 LOC389834 ankyrin repeat domain 57 pseudogene 4 177059 179480 + 12477932 389834 Q6ZW97 ABBA01005983;ABBA01168746;AK123403;AL354822;BC137367;NR_027420 AAI37368;BAC85607 Hs.720653 2111288;5015621 D11S3732;D17S837 pseudo 18398 VALIDATED 4107890 LOC338797 uncharacterized LOC338797 12 12 12 q24.33 131459657 131460156 + 131832015 131852100 + 131347470 131367555 + 12477932;20400778 338797 Q4G0G9 ABBA01032816;AC092850;AC139874;AC140118;AK098523;AMYH02027564;AMYH02027565;BC093897;BC093899;HG505401;NR_103736 AAH93897;AAH93899 Hs.592007 2126687 UniSTS:495131 APPROVED ncrna 18782 VALIDATED 1626253 LOC391003 PRAME family member-like ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred) 1 1 1 p36.21 12177047 12180563 - 13474053 13477569 - 13222695 13226154 - 6480464 16159394;21347312 391003 Q5VWM3 AC244216;CR854858;NM_001099850 NP_001093320 OTTHUMP00000002959 APPROVED protein-coding ENSG00000279804 INFERRED 1603330 LOC391343 uncharacterized LOC391343 p25.3 391343 ABBA01035637;AC113607;AK128042;XR_249068 Hs.467549 APPROVED ncrna 18405 MODEL 1601911 LOC392395 similar to hemicentin q34.11 392395 Q6ZRS5 AK128020;AL360004;NM_001013664 BAC87234;NP_001013686;Q6ZRS5 Hs.512559 protein-coding 18407 1604912 LOC399886 uncharacterized LOC399886 11 p11.2 45371403 45388508 + 12477932;23251661 399886 A1L4Q6 ABBA01060761;AC018716;AK123417;AMYH02024693;BC130636;BC130638;CH471064;HG503743;NR_122071;XR_109047;XR_111175;XR_171893 A1L4Q6;AAI30637;AAI30639;BAC85611;EAW68041 Hs.559970 APPROVED ncrna ENSG00000255267 13453 VALIDATED 1603329 LOC400464 similar to FLJ43276 protein q26.3 400464 Q6ZSI0 AC090825;AK127420;NM_001013670;XM_942476 BAC86971;NP_001013692;Q6ZSI0;XP_947569 Hs.187134 protein-coding 18413 1603237 LOC400511 uncharacterized LOC400511 16 p12.1 24661422 24671062 - 12477932;23535033 400511 Q6ZSR6 ABBA01017096;ABBA01017097;AC002565;AK127191;AMYH02031720;AMYH02031721;AMYH02031722;AMYH02031723;BC132761;BC132789;HG507862;NR_122072;XR_109271;XR_111652;XR_172139 BAC86880;Q6ZSR6 Hs.592028 APPROVED ncrna ENSG00000224310 16985 VALIDATED 1606636 LOC400576 uncharacterized LOC400576 FOUND IN extracellular space 17 17 p12 14695523 14708138 - 14670900 14683514 - 400576 Q6ZS49 AC005863;AK127731;XR_109367;XR_111669;XR_172190 BAC87106;Q6ZS49 Hs.446616 APPROVED ncrna 13514 8663103 LOC400661 uncharacterized LOC400661 18 q23 74401986 74405592 + 12477932 400661 Q6ZT83 AC034110;AC110743;AK126829;BC119774;BC119776;KF511252;NR_122073;XR_110159;XR_111804;XR_172255 AAI19775;AAI19777;BAC86711;Q6ZT83 Hs.514963 ncrna 13497 VALIDATED 1606079 LOC400707 uncharacterized LOC400707 19 q13.32 51689605 51691595 + 12477932 400707 Q6ZVU4 AC011484;AK124070;BC132839;BC132841;NM_001013673 BAC85766;NP_001013695 Hs.7193 1856416 STS-AA022541 APPROVED ncrna 18417 1606073 LOC400736 PRAME family member-like ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred) 1 1 1 p36.21 11964054 11969151 + 13447414 13452656 - 13196188 13201409 - 6480464 23000965 400736 Q5VWM6 AC244216;AC245056;CR854858;NM_001291380 NP_001278309 OTTHUMP00000009723 APPROVED protein-coding INFERRED 7796617 LOC339010 POTE ankyrin domain family, member B-like q11.2 6480464 12475935;12477932;15276201;15489334;19718026;20379614 339010 A0JP26 AC060814;AC136352;AY465170;AY465173;BC066981;BC101005;BC101006;BC127123;NM_207355;XM_006725172;XR_430714 AAH66981;AAI01006;AAI01007;AAI27124;AAS58869;AAS58872;NP_997238;Q6S5H4;XP_006725235 Hs.722659;Hs.742365 POTE-15 ANKRD26-like family B member 1;POTE ankyrin domain family member B;POTEB;prostate, ovary, testis-expressed protein on chromosome 15 protein-coding 17882 VALIDATED 1604684 LOC399900 uncharacterized LOC399900 11 11 11 q12.3 59070535 59072278 + 61735272 61736956 + 61967800 61969484 + 12477932;14702039 399900 Q8N204 ABBA01003209;AK093779;AMYH02024884;AP003733;BC132894;BC132896;XR_111182;XR_247232;XR_252902 BAC04223 Hs.528437 1683419 RH94224 APPROVED ncrna ENSG00000279491 18410 MODEL 7799238 LOC400863 uncharactered LOC400863 21 21 21 q22.11 20520817 20535849 + 35321230 35336260 + 33948926 33963960 + 400863 ABBA01057363;AK127913;AMYH02037750;AP000314;AP000569;KF511400;KF511401;NM_001288961 BAC87187;NP_001275890 Hs.729814 uncharacterized protein LOC400863 protein-coding 13519 VALIDATED 8663063 LOC400997 uncharacterized LOC400997 2 q13 111098345 111114185 - 12477932;24292274 400997 ABBA01001561;AC096670;AK125994;AMYH02004568;AMYH02004569;AMYH02004570;BC132790;BC132794;HG494479;NR_122074;XR_109903;XR_112372;XR_171321 Hs.652337 ncrna ENSG00000204581 16971 VALIDATED 8663197 LOC401040 uncharacterized LOC401040 2 2 2 q37.3 234194763 234202556 + 240499995 240507788 + 239578301 239586094 + 12477932 401040 ABBA01033515;AC079612;AK127861;AMYH02006085;BC132946;BC132948;XR_109937;XR_112452;XR_171357 BAC87165 Hs.516794 protein-coding ENSG00000196758 16995 MODEL 4140188 LOC400499 uncharacterized LOC400499 INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4,6-trinitrobenzenesulfonic acid (ortholog) 16 16 16 p13.13 11661134 11774135 - 11536047 11585611 - 11439462 11462450 - 6480464 400499 Q6ZTK2 ABBA01006813;ABBA01006814;AC099489;AK126539;AMYH02031469;AMYH02031470;CH471112;XM_006710000;XM_006720997;XM_006726629 BAC86584;EAW85154;Q6ZTK2;XP_006710063;XP_006721060;XP_006726692 Hs.459937 1337035;1753771;1764211;2119378;5015961 D15S1477;D16S2613;D16S2627;SHGC-147848;SHGC-89223 hypothetical protein LOC400499;uncharacterized protein LOC400499 APPROVED protein-coding 18414 MODEL 1605187 LOC401072 hypothetical gene supported by AK125942 p14.1 401072 Q6ZU73 AC104633;AK125942;NM_001013679 BAC86353;NP_001013701;Q6ZU73 Hs.631904 protein-coding 18423 1602619 LOC400924 hypothetical gene supported by AK056895 q12.2 14702039 400924 Q96MI5 AC003071;AK056895;CH471095;CR608861;NM_001013676 BAB71303;EAW59856;NP_001013698;Q96MI5 Hs.534783 protein-coding 18420 1602397 LOC401052 uncharacterized LOC401052 3 3 3 p25.3 9983552 9988232 - 10048102 10052779 - 10006418 10011095 - 14702039 401052 B3KMQ7 ABBA01020396;AC022007;AK022260;AMYH02006243;AX882003;CH471055;HG495474;NM_001008737 BAG51069;CAE91429;EAW64048;NP_001008737 Hs.662766 1699916;5015619 D11S3114;RH103566 hypothetical protein LOC401052;uncharacterized protein LOC401052 APPROVED protein-coding 17389 PREDICTED 1602618 LOC400940 uncharacterized LOC400940 2 2 2 p25.2 6036213 6042467 + 6122110 6128364 + 5981978 5988232 + 14702039;16344560 400940 Q6ZWI0 ABBA01023889;AC073479;AK095714;AK123041;AMYH02003221;DA745281;NR_026833 BAC85522 Hs.378814 FLJ38395 APPROVED ncrna 16952 PREDICTED 1604911 LOC401123 uncharacterized LOC401123 4 4 p15.2 27658547 27659126 - 26818225 26818804 - 401123 Q6ZS92 AC024132;AK127623;XR_041599;XR_041600 Q6ZS92 Hs.429441 APPROVED ncrna 13512 4108091 LOC400943 uncharacterized LOC400943 FOUND IN extracellular region (inferred) 2 2 p25.1 10059544 10059831 - 10143627 10143914 - 12975309 400943 Q6UY13 AC010969;AY358123;AY358741;XR_041686;XR_041687 AAQ88490;AAQ89101;Q6UY13 Hs.526504 APPROVED ncrna 15618 1602797 LOC400867 uncharacterized LOC400867 21 21 21 q22.2 25448157 25448566 - 40249215 40310353 - 38879691 38901927 - 19174780;19422935;20886065;22542470;24024966 400867 Q6ZSX8 ABBA01011089;AF064858;AK127082;AMYH02037820;AMYH02037821;AP001042;AP001043;AP001044;AP001045;NR_120405;XR_248989;XR_254035;XR_425269;XR_425270;XR_430372;XR_430373;XR_430374;XR_433643;XR_433644 BAC86818 Hs.689509 1669452 G29029 APPROVED ncrna 16980 VALIDATED 1604679 LOC401296 uncharacterized LOC401296 7 7 7 p22.3 1700563 1702078 - 1732446 1733961 - 1692810 1694325 - 12477932 401296 Q6ZUE6 ABBA01039353;AC074389;AK125766;AMYH02015057;BC132760;BC137138;CH236953;XR_108728;XR_112967;XR_171619 AAI32761;BAC86279;EAL23946 Hs.520617 APPROVED ncrna ENSG00000205971 18626 MODEL 1604427 LOC401351 hypothetical gene supported by BC040831 q11.21 12477932 401351 Q6ZQP9 AC006455;AK128835;BC040831;XM_379843;XM_926596;XM_935479;XM_935792;XM_938438;XM_943672 BAC87635;Q6ZQP9;XP_379843;XP_931689;XP_940572;XP_940885;XP_943531;XP_948765 Hs.599397 protein-coding 18428 1601908 LOC401410 hypothetical LOC401410 q34 401410 AC005692;BX648692;CH236950;NM_001008742 EAL24021;NP_001008742 Hs.531393 1794810 PMC58741P2 protein-coding 17390 1601906 LOC401467 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like pseudogene 8 8 q21.2 82559379 82561179 - 86787279 86789306 - 401467 AC232323;AF279874;NG_009315 pseudo INFERRED 1601787 LOC401589 uncharacterized LOC401589 X X X p11.22 55930958 55934386 + 51793956 51797351 - 52050860 52054255 - 12477932;14702039 401589 Q8N8P6 AC239585;AK096379;BC137157;BX322790;XR_132683 BAC04772;CAH70175;Q8N8P6 Hs.553803;Hs.722862 APPROVED ncrna ENSG00000182776 18430 MODEL 1602148 LOC401286 uncharacterized LOC401286 6 q27 167666840 167682447 - 401286 Q6ZSV7 ABBA01000421;AK123853;AK127120;AL356123;AMYH02014984;CH471051;HG499882;NR_117091;XR_245638;XR_250114;XR_252130;XR_426117;XR_428060;XR_432101 BAC85709;BAC86839;EAW47492;Q6ZSV7 Hs.487182 APPROVED ncrna 18625 VALIDATED 1602614 LOC439985 hypothetical gene supported by AK125693 q22.2 439985 Q6ZUH8 AC010997;AK125693;NM_001013696 BAC86247;NP_001013718;Q6ZUH8 Hs.621975 protein-coding 18439 1606066 LOC403323 uncharacterized LOC403323 9 q21 62867874 62880626 - 403323 AK000451;AK307773;AK309896;AL512625;AMYH02020750;CR769767;DB521113;HG502076;HG502077;NR_122076;NR_122077;XR_252551;XR_428481;XR_428482;XR_432409 Hs.646340;Hs.693354;Hs.739105 APPROVED ncrna 16916 VALIDATED 8663376 LOC440446 uncharacterized LOC440446 17 q21.33 51336715 51342571 + 12477932 440446 ABBA01041264;AC005823;AK124832;AMYH02033619;BC132910;HG509249;NR_122104;XR_109407;XR_111720;XR_172214 BAC85962 Hs.626751 ncrna ENSG00000225860 13466 VALIDATED 1604897 LOC440157 hypothetical gene supported by AK096951; BC066547 q11.1 12477932 440157 Q6NYL1 AL589743;BC066547;NM_001013701 AAH66547;NP_001013723;Q6NYL1 Hs.659013 protein-coding 18445 1604420 LOC440313 uncharacterized LOC440313 15 15 15 q26.3 77736602 77738367 - 101323681 101325434 - 100783476 100785229 - 12477932 440313 ABBA01020533;AC087762;AK127131;AMYH02031164;BC140899;BC140900;XR_109230;XR_111559;XR_172101 AAI40900;AAI40901 Hs.534903 5015404;5015619;5016478;5019070;5024413 D11S3114;G44334;GDB:434012;L17705;L17877 APPROVED ncrna ENSG00000279588 18448 MODEL 1602027 LOC401357 uncharacterized LOC401357 7 7 p11.2 56876811 56881028 - 56810274 56813335 - 12477932 401357 Q6ZRM9 ABBA01017734;AC118758;AK125790;AK128114;AMYH02015763;BC137417;JX508854;XR_159055;XR_171646;XR_250196;XR_432166 AFT92038;BAC87281;Q6ZRM9 Hs.457696 5127133 RH65122 APPROVED ncrna 18429 MODEL 1603803 LOC440570 LOC440570 p36.13 12477932 440570 A0AVG0;Q6ZUF8 AK125737;BC126340;BX284668;NM_001013708 A0AVG0;AAI26341;BAC86267;NP_001013730;Q6ZUF8 Hs.308060 1744679;5014055;5493703 D1S3697;GDB:549214;UniSTS:490442 protein-coding 18452 1602945 LOC441070 similar to FLJ44076 protein p12 441070 Q6ZWE7 AC116331;AK123203;NM_001013715 BAC85556;NP_001013737;Q6ZWE7 Hs.121853 protein-coding 18458 1606858 LOC440742 hypothetical gene supported by AK124614 q44 440742 Q6ZVG0 AK124614;AL590483;NM_001013710 BAC85901;NP_001013732;Q6ZVG0 Hs.629644 protein-coding 18453 1602793 LOC441120 similar to LOC285679 protein q35.3 14702039 441120 Q8NA96 AC136604;AK093042;NM_001013718 BAC04030;NP_001013740;Q8NA96 Hs.631949 protein-coding 18643 1605480 LOC441257 hypothetical LOC441257 q11.23 12477932 441257 Q2TAP3;Q86WY7 AC005488;BC047594;BC110795;NM_001023562 AAH47594;AAI10796;NP_001018856;Q2TAP3;Q86WY7 Hs.571275;Hs.645327 MGC131642 protein-coding 18650 1602612 LOC441268 hypothetical gene supported by BC044942 q21.3 441268 Q6ZUZ7 AC079781;AK125166;NM_001013725 BAC86069;NP_001013747;Q6ZUZ7 Hs.668620 protein-coding 18463 1605155 LOC541469 hypothetical protein LOC541469 q13.2 12477932 541469 AC011479;AK027130;BC025257;CH471126;CR625148;NM_001013617 AAH25257;BAB15669;EAW56768;NP_001013639 Hs.660510 protein-coding 18479 1601679 LOC441956 similar to cDNA sequence BC021523 q11.2 441956 Q6ZUI3 AK125677;AL050303;NM_001013729 BAC86242;NP_001013751;Q6ZUI3 Hs.535148 2220578 UniSTS:485532 protein-coding 18467 1602381 LOC619427 uncharacterized LOC619427 q24.3 619427 AL834492 Hs.638555 DKFZp434O0331 APPROVED ncrna 2292182 LOC63930 uncharacterized LOC63930 20 20 20 q13.33 58317384 58393930 + 61640735 61716423 + 63009383 63085071 + 11780052;12477932;22219177 63930 ABBA01021378;ABBA01021379;ABBA01021380;ABBA01021381;AK128329;AK310606;AL121673;AMYH02037446;AMYH02037447;AMYH02037448;HG511532;KF456990;NR_033370 Hs.640084 1784374 SHGC-146520 FLJ17648;FLJ46471 APPROVED ncrna ENSG00000272259 12773 PREDICTED 1603422 LOC643406 uncharacterized LOC643406 ASSOCIATED WITH Melanoma (inferred) 20 20 20 p12.3 5521865 5527803 + 5451842 5457780 + 5471196 5477134 + 8554872 12477932 643406 Q8N5R8 ABBA01053880;AK125948;AL121757;AMYH02036641;BC031676;CH471133;NR_029405 AAH31676;BAC86356;EAX10419;EAX10420 Hs.431161 2107383;5118412 D11S3270;MGC35023__7712 MGC35023 APPROVED ncrna 14595 VALIDATED 7375459 LOC728034 BMS1 ribosome biogenesis factor pseudogene 2 94195800 94203390 - 9847074 728034 ABBA01004002;AC026273;NG_034105 APPROVED pseudo INFERRED 1603288 LOC88523 CG016 q13.1 14702039;8812419 88523 Q6ZV26;Q96KV2;Q9Y3H6 AK093514;AL049802;AL137247;AL353665;CR596312;NM_033111;U50529 CAB42563;CAI13193;NP_149102;Q6ZV26;Q96KV2;Q9Y3H6 Hs.507680 protein-coding 14264 5133383 LOC441242 uncharacterized LOC441242 7 7 q11.21 65111924 65235797 - 65647010 65770810 - 12477932;14702039 441242 Q6NXN2 ABBA01008763;ABBA01049023;ABBA01049024;ABBA01049025;ABBA01049026;AC073107;AC104057;AMYH02015890;AMYH02015891;AMYH02015892;AMYH02015893;BC066990;CN483231;NR_038378;NR_103527 AAH66990 Hs.373941 1671887;1725771;2118594;2138914 G23512;G62070;GDB:1317576;GDB:1317598 APPROVED ncrna 18462 VALIDATED 1605154 LOC541473 FK506 binding protein 6, 36kDa pseudogene 7 7 q11.23 75021229 75024708 - 75391949 75395461 - 6480464 12477932 541473 AC006014;AC211486;AK310313;BC022013;BC067783;HY019943;HY214099;NR_003602 Hs.645394;Hs.695009 2136686 GDB:4585047 MGC88170 pseudo ENSG00000146722 18674 VALIDATED 1605900 LOC91431 prematurely terminated mRNA decay factor-like q25 14702039 91431 AC023886;AK090556;AK126054;AL137700;BX647594;NM_001099776 BAC86416;BAG52184;CAB70881;NP_001093246;Q6ZU11 Hs.444338 protein-coding 17436 2292120 LOC93622 Morf4 family associated protein 1-like 1 pseudogene 4 4 4 p16.1 6577846 6579799 + 6675821 6677774 + 6674094 6676047 + 12477932;19322201 93622 ABBA01012726;AC093323;AK026375;AK314832;AMYH02008671;BC006130;BC021542;BC026970;BC040997;BC066911;BC073972;CH471131;NR_015433 BAG37352;EAW82385 Hs.6815 2140278;2156178;2162521 NIB1869;SHGC-50485;SHGC-59840 APPROVED pseudo 14300 PREDICTED 2304143 LOC90768 uncharacterized LOC90768 4 4 4 q34.3 180392107 180397616 - 183060159 183065668 - 182139006 182144515 - 12477932;14702039;15146197;16344560;19010793;20944657;21832049;23551011 90768 ABBA01070487;AC108142;AI380807;AK024300;AK056196;AK094166;AMYH02010618;BC011956;BC033172;CH471056;CN360794;CN360795;DA296106;DA736567;DA736633;HG497567;HG497569;HG497570;HG497572;NR_027107;NR_125905;XR_244768;XR_249712;XR_251709 BAG51287;EAX04707;EAX04708 Hs.175465;Hs.680578 1686476 RH92959 AC108142.1 APPROVED ncrna ENSG00000177822 14643 VALIDATED 9585775 LOC403312 putative uncharacterized protein MGC39545 11 11 11 q24.2 122525561 122527038 + 125365104 125366769 + 125495208 125496873 + 12477932;21832049 403312 Q8IYB0 ABBA01031244;AMYH02025735;AP000708;BC036197;NM_001301851;XR_110535;XR_111226;XR_171927 AAH36197;NP_001288780;Q8IYB0 Hs.450611 protein-coding 17540 VALIDATED 1352245 LOH18CR1 loss of heterozygosity, 18, chromosomal region 1 9718349 23703 HGNC:6659 1316927 LOH12CR1 loss of heterozygosity, 12, chromosomal region 1 INTERACTS WITH copper(2+) sulfate; phenobarbital; 17alpha-ethynylestradiol (ortholog) 12 12 12 p12 17653635 17763988 + 12509967 12637587 + 12357033 12484653 + 6480464 11896457;12477932;15284860;16189514;20473970;23000965;23128233 118426 G3V1P3;Q969J3 ABBA01067839;ABBA01067840;ABBA01067841;ABBA01067842;ABBA01067843;AC007619;AC007621;AK075028;AMYH02026057;AMYH02026058;AY037865;AY037866;BC013668;BP260903;CH471094;CQ783014;NM_001300742;NM_058169;XM_005253296;XR_242884;XR_242885 AAH13668;AAK71328;AAK71329;ABM82704;ABM85888;BAC11360;CAF86221;EAW96257;EAW96258;EAW96259;EAW96260;NP_001287671;NP_477517;Q969J3;XP_005253353 Hs.720779 1652074;1658688;1689995;1853848;2107271;2183267;2185291 G41284;G41285;G41290;G41292;LOH12CR1__6407;RH47690;RH92743 LOH1CR12 OTTHUMP00000238989;OTTHUMP00000238990;OTTHUMP00000238991;loss of heterozygosity 12 chromosomal region 1 protein protein-coding HGNC:17950 17439 VALIDATED 1347476 LOH19CR1 loss of heterozygosity, 19, chromosomal region 1 9241274 8378 HGNC:6660 1602607 LOH12CR2 loss of heterozygosity, 12, chromosomal region 2 (non-protein coding) INTERACTS WITH 17beta-estradiol; trichostatin A 12 12 12 p13.2 17651958 17653616 - 12508342 12510001 - 12355408 12357067 - 6480464 11896457;15284860 503693 Q96QS4 ABBA01067839;AC007621;AMYH02026057;AY037867;BE645784;CH471094;NR_024061 AAK71330;EAW96256 Hs.67553 1658688;5014051;5015619;5022200;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;L18426;RH47690 LOH2CR12 APPROVED ncrna ENSG00000205791 HGNC:26524 VALIDATED 1353466 LOH1CR1 loss of heterozygosity, 1, chromosomal region 1 8377 HGNC:6661 5130639 LONRF2P2 LON peptidase N-terminal domain and ring finger 2 pseudogene 2 13 13 19183186 19183845 + 18609046 18609705 + 100421799 AL359737;AMYH02027602;NG_024885 pseudo HGNC:39829 INFERRED 5130638 LONRF2P1 LON peptidase N-terminal domain and ring finger 2 pseudogene 1 18 18 14450218 14450882 - 14450219 14450883 - 100421827 AMYH02034358;AP006261;NG_026274 pseudo HGNC:39828 INFERRED 1605309 LONRF1 LON peptidase N-terminal domain and ring finger 1 ENCODES a protein that exhibits ATP-dependent peptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN ATP catabolic process (inferred); proteolysis (inferred); INTERACTS WITH arsenite(3-); bisphenol A; cadmium dichloride 8 8 8 p23.1 11544278 11577192 - 12579406 12612992 - 12721897 12755483 - 6480464 12477932;14702039;15489334;18253036;19549727;22493164;23105109 91694 E9PQH4;E9PRX6;H7C5V9;Q17RB8 AA017498;AA284268;ABBA01021632;ABBA01021633;ABBA01021634;AC123777;AI004802;AK074329;AK297266;AK300538;AMYH02017469;BC004538;BC106042;BC117381;BC117385;BQ718281;CH471080;NM_152271;XM_005273685 AAH04538;AAI17382;AAI17386;BAB85052;BAG59741;BAG62246;EAW63860;NP_689484;Q17RB8;XP_005273742 Hs.180178 1677274;2171277;2181706;2190665 D8S12720;RH78063;RH91956;STS-AA007596 FLJ23749;RNF191 LON peptidase N-terminal domain and RING finger protein 1;OTTHUMP00000159901;OTTHUMP00000229915;RING finger protein 191 protein-coding ENSG00000154359 HGNC:26302 08674 PROVISIONAL 1605609 LONP2 lon peptidase 2, peroxisomal ENCODES a protein that exhibits enzyme binding; peptidase activity; protease binding; INVOLVED IN protein processing; protein targeting to peroxisome; regulation of fatty acid beta-oxidation; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; peroxisome; INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; methyl methanesulfonate 16 16 16 q12.1 32785336 32894994 + 48278211 48387888 + 48244300 48353977 + 6480464;8554872 12477932;14561759;14702039;15870080;18281296;19322201;19615732;19946888;20178365;22002062;24550385;24816145 83752 E7EN44;H3BPF7;H3BQ67;H3BUW8;Q86WA8 ABBA01000916;ABBA01000917;AC007600;AC023818;AJ548761;AK027544;AK027666;AK074775;AK090452;AK127125;AK130091;AK172790;AK294779;AL834201;AMYH02031980;BC002916;BC004234;BC093910;BC093912;BC110434;BC143246;BM782695;BQ189130;CH471092;DC316485;DC393124;NM_001300948;NM_031490;T67139;XM_005256191 AAH02916;AAH04234;AAH93910;AAH93912;AAI10435;AAI43247;BAB55278;BAC03433;BAC11201;BAD18769;BAG51340;BAG54439;BAG57906;CAD38889;CAD68987;EAW82723;EAW82724;EAW82725;NP_001287877;NP_113678;Q86WA8;XP_005256248 Hs.295923;Hs.652267;Hs.731827 1661658;1676021;1696970;1729479;1736606;1851408;5022450 D10S275;D16S2600E;D16S285;RH101957;RH15645;RH65180;WI-12239 LONP;LONPL;MGC4840 OTTHUMP00000164187;lon protease 2;lon protease homolog 2, peroxisomal;lon protease-like protein 2;peroxisomal LON protease like;peroxisomal Lon protease homolog 2 protein-coding HGNC:20598 07491 VALIDATED 1604220 LONRF2 LON peptidase N-terminal domain and ring finger 2 ENCODES a protein that exhibits ATP-dependent peptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN ATP catabolic process (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 2 2 2 q11.2 95094286 95143712 - 100889753 100939195 - 100273291 100322733 - 6480464;8554872 12477932;14702039;15489334;19240061;19615732;21890473;23333304 164832 Q1L5Z9 ABBA01073935;AC012493;AC104782;AK056373;AK094044;AK123836;AK124739;AK127206;AK128715;AL157505;AMYH02004413;BC101662;BC101664;BC143468;BC143471;BF436808;CH471127;DQ020495;NM_198461 AAI01663;AAI01665;AAI43469;AAY84832;BAC86883;EAX01846;EAX01847;EAX01848;EAX01849;NP_940863;Q1L5Z9 Hs.21380 1705118;2181743;5022322;5124621 D11S2560;D2S1675E;RH98157;SHGC-79983 FLJ45273;MGC126711;MGC126713;RNF192 LON peptidase N-terminal domain and RING finger protein 2;OTTHUMP00000161253;OTTHUMP00000203187;RING finger protein 192;neuroblastoma apoptosis-related protease protein-coding ENSG00000170500 HGNC:24788 13503 VALIDATED 1312479 LOXHD1 lipoxygenase homology domains 1 This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010] 18 18 18 q21.1 40864351 41044583 - 44056935 44236996 - 46476340 46657033 - 737633;7240710;8554872;8699517 12477932 10737800;14702039;17353931;19732867;20301607;20379614;21465660;22341973 125336 B7Z7T7;C9IYQ1;C9J269;C9JMG7;F5GXP0;F5GZB4;H7BZ41;J3KRE7;J3QKX9;Q8IVV2 ABBA01022317;ABBA01022318;ABBA01022319;AC018931;AC064800;AC091139;AK057232;AK127869;AK302484;AK302848;AMYH02034660;AMYH02034661;AMYH02034662;BC041860;BC047720;BF901688;BG722402;BX647229;CH471088;DR731345;DR731346;KC877690;NG_016646;NM_001145472;NM_001145473;NM_001173129;NM_144612;XM_006722384;XM_006722385;XM_006722386;XM_006722387;XM_006722388;XM_006722389;XM_006722390;XM_006722391 AAH41860;AAH47720;BAB71390;BAH13723;BAH13821;EAX01477;EAX01478;EAX01479;EAX01480;NP_001138944;NP_001138945;NP_001166600;NP_653213;Q8IVV2;XP_006722447;XP_006722448;XP_006722449;XP_006722450;XP_006722451;XP_006722452;XP_006722453;XP_006722454 Hs.345877 1725243;1762685 RH118914;SHGC-146480 DFNB77;FLJ32670;LH2D1 OTTHUMP00000163480;OTTHUMP00000163481;OTTHUMP00000163482;OTTHUMP00000196916;OTTHUMP00000196917;lipoxygenase homology domain-containing protein 1 APPROVED protein-coding ENSG00000167210 HGNC:26521 08316 613072;613079 REVIEWED 1601954 LOC81691 exonuclease NEF-sp ENCODES a protein that exhibits exonuclease activity (inferred); nucleotide binding (inferred); RNA binding (inferred); INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); FOUND IN extracellular vesicular exosome; nucleolus; INTERACTS WITH thioacetamide (ortholog) 16 16 16 p12.3 20127666 20170873 + 20817751 20860990 + 20806445 20849668 + 6480464 10493829;11076863;11230166;11256614;12477932;14702039;15489336;16344560;16381901;19056867;21988832 81691 Q96IC2 ABBA01028287;AC004381;AF332193;AK314458;AL136763;AL162035;AMYH02031666;AMYH02031667;BC007646;BC068503;CH471228;DB030041;DB059505;NM_001144924;NM_001199053;NM_030941;XM_005255604;XM_005255606 AAC31668;AAH07646;AAH68503;AAK17192;BAG37066;CAB66697;CAB82386;CAL37723;EAW66838;EAW66839;EAW66840;EAW66841;NP_001138396;NP_001185982;NP_112203;Q96IC2;XP_005255661;XP_005255663 Hs.177926 1684872;1722389;1756519;2155210 G60267;RH75228;SHGC-143552;SHGC-60631 DKFZp434J0315 OTTHUMP00000162294;putative RNA exonuclease NEF-sp protein-coding ENSG00000005189 17433 VALIDATED 6769573 LOXL1-AS1 LOXL1 antisense RNA 1 INTERACTS WITH valproic acid 15 15 q24.1 74209809 74220589 - 73917468 73928248 - 6480464 14702039;16344560;17690259;20379614 100287616 ABBA01038704;ABBA01038705;AC108137;AK001164;AK056376;AK056885;AMYH02030781;BC017577;BQ020741;BX355383;BX366015;DA021396;DA038997;HG507228;HG507229;HG507230;HG507231;HG507232;HG507234;HG507237;KF495764;NR_040066;NR_040067;NR_040068;NR_040069;NR_040070 Hs.599785 1341809;5022200;5109281 D15S818;D1S1425;L18426 RP11-941F15.1 APPROVED ncrna ENSG00000261801 HGNC:44169 VALIDATED 736846 LOX lysyl oxidase The protein encoded by this gene is an extracellular copper enzyme that initiates the crosslinking of collagens and elastin. The enzyme catalyzes oxidative deamination of the epsilon-amino group in certain lysine and hydroxylysine residues of collagens and lysine residues of elastin. In addition to crosslinking extracellular matrix proteins, the encoded protein may have a role in tumor suppression. Defects in this gene are a cause of autosomal recessive cutis laxa type I (CL type I). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 5 5 5 q23.2 117353346 117368512 - 121398890 121414206 - 122063195 122078360 - 1580835;1581883;1581895;1581887;1581881;1581896;1581899;1581885;1581886;1581902;1580863;6480464 10965315;12393934;12417550;14553832;15218472;15273433;15816421;24127;8562290;8638917 10391127;11642359;11675877;11807790;11916256;12101112;12452073;12477932;12577300;12686141;12750963;12820424;1352776;1357535;15110773;15137057;15146197;15374948;15489334;15609325;15843371;16023247;16251195;16344560;16357151;16440329;16533769;16642001;1683640;1685472;17395448;17616686;17673218;17849172;18566459;18764858;19020742;19029090;19087518;19111879;19394199;19406911;19526206;19570982;19583806;19654310;19661442;19667273;19724858;19816945;20026874;20146053;20179655;20379614;20453000;20498644;20689807;20717923;20812961;20929399;20956321;21215756;21239473;21282564;21306648;21318022;21532881;21536655;21546528;21565611;21575462;21612403;21740577;21995629;22438909;22533780;22722997;22767499;22824984;22883193;22948781;22966818;22994786;23165370;23188504;23262025;23267843;23357697;23400010;23413043;23413430;23494965;23530115;23545606;23560895;23619422;23667531;23750284;23758270;23886186;23970168;23975428;24065528;24113189;24167568;24265769;24574233;24650661;2863189;2874833;3120785;6127904;6144680;6147899;6912069;7706256;7902322;8082810;8100215;8442432;8636146;9111998 4015 B7ZAJ4;D0PNI2;H0YAL3;P28300 ABBA01068960;AC010255;AF039290;AF039291;AF270645;AI536895;AK297709;AK298781;AK307559;AK307732;AK312269;AK315873;AK316309;AMYH02012089;BC074820;BC074872;BC089436;CH471086;CN265862;DA461370;EF094938;L16895;M84150;M94054;NG_008722;NM_001178102;NM_002317;S45875;S78694 AAA16870;AAA59525;AAA59541;AAB21243;AAB23549;AAD02130;AAD10703;AAH74820;AAH74872;AAH89436;AAK58603;ABO15004;BAF98764;BAG35200;BAG60066;BAG60920;BAH14680;EAW48898;NP_001171573;NP_002308;P28300 Hs.102267 1339332;1644048;1742691;1743201;1760253;1767803;1774473;2108207;2119335;2143600;5017945;7186489 D5S2411;D5S467;GDB:201801;GDB:294218;LOX_8440;MARC_64269-64270:1182200887:1;RH47835;RH66702;RH68325;SHGC-132561;SHGC-35935 MGC105112 OTTHUMP00000159161;protein-lysine 6-oxidase APPROVED protein-coding ENSG00000113083 HGNC:6664 01087 153455 REVIEWED 1318705 LOXL1 lysyl oxidase-like 1 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008] 15 15 15 q22 51098617 51121842 + 74218789 74244478 + 73926448 73952137 + 1580863;6480464;7240710;7394726;7394734;7387326;7387328;7387325;7394725;7394723;7387332;7394729;7387327;7387329;7387331;7387333;7387334;7387330 17378376;18223248;18296663;19029039;19098994;19373106;19503743;21212179;21236409;21320968;21740868;22605916;22765198;23288989;23378724 10773658;11642359;12477932;12577300;12686136;14550642;14745449;15086544;15489334;16251195;16842595;17287949;17690259;17690546;17891191;17999374;18036875;18037624;18201684;18254956;18282488;18287813;18332326;18334928;18334947;18385063;18385788;18421074;18450598;18483563;18541854;18552979;18618003;18636115;18648524;18806885;18958304;18974306;19112534;19182211;19240540;19343041;19450918;19584346;19664108;19724858;19763368;19936304;20051886;20142848;20379614;20431720;20436359;20613779;20881960;20940247;21139690;21145461;21190048;21197115;21272281;21510775;21559813;21674292;21738402;21740577;21784201;21855673;21948647;21970694;22128228;22194657;22328822;22633114;22906264;22911823;23196386;23275563;23357697;23411028;23441117;23494965;23563607;23687437;23869164;23886154;24068861;24917141;7689553;7706256 4016 H3BUV8;Q08397 ABBA01038704;ABBA01038705;AC108137;AK303982;AK314222;AL529650;AMYH02030781;BC015090;BC068542;L21186;NG_011466;NM_005576;U24389 AAA50162;AAA68940;AAH15090;AAH68542;ABM84257;BAG36895;BAG64900;NP_005567;Q08397 Hs.65436 1341809;1658957;1679968;1721603;1752671 D15S818;G59811;RH80820;SHGC-106501;WI-18919 LOL;LOXL OTTHUMP00000174929;lysyl oxidase homolog 1;lysyl oxidase-like protein 1 APPROVED protein-coding ENSG00000129038 HGNC:6665 08861 153456;177650 REVIEWED 1347914 LOR loricrin This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008] 1 1 1 q21 126303436 126305857 + 153232179 153234600 + 153259703 153262124 + 1580863;6480464;7240710;8554872 10066784;10798362;10908733;11443109;11698679;11703298;12072018;12200429;12477932;12615358;1355480;15102081;15598222;16169070;17953701;18166499;18844868;19601998;19672094;2007607;20184865;20236940;20634891;21198793;21221983;22831754;23678955;7592852;8248167;8274037;8673107;8999895;9326323;9326398;9690138 4014 P23490;Q6FHY3 AB013076;ABBA01049433;AL161636;AMYH02001902;BC034690;BC108290;CH471121;CR536555;M61120;M94077;NG_011818;NM_000427 AAA36180;AAA36181;AAH34690;AAI08291;BAA25794;CAG38792;EAW53339;NP_000418;P23490 Hs.251680 1742193;1763309;2158690;2162555 D4S3344;GDB:193281;RH17713;SHGC-147038 MGC111513 OTTHUMP00000015823 APPROVED protein-coding ENSG00000203782 HGNC:6663 01070 152445;604117 REVIEWED 734453 LONP1 lon peptidase 1, mitochondrial This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013] 19 19 19 p13.2 5629216 5657543 - 5691845 5720463 - 5691834 5720452 - 633879;1580724;1580863;6480464 12082077;12372343 12198491;12477932;12657466;14702039;14739292;15489334;15683722;17314511;17342744;17418790;17420247;17584658;18021745;18029348;18063578;18174225;18378094;18781797;19615732;19946888;20186120;20562859;20843780;20877624;20933102;21139048;21145461;21163940;21252943;21347624;21659532;22079093;22586326;22623428;22904065;22939629;23201127;23443559;23455922;23667531;23788038;23798571;24250222;24255178;24260536;24414418;24816145;25027693;7961901;8119403;8248235;8666383;9485316 9361 K7EJE8;K7EKE6;K7EQF8;K7ER27;K7ER56;K7ERR6;K7ERS1;P36776 ABBA01055998;ABBA01055999;ABBA01056000;ABBA01056001;AC011499;AF059296;AF059309;AK056366;AK096433;AK096626;AK127867;AK298531;AK309720;AL096720;AMYH02035331;AMYH02035332;BC000235;BC109218;BC109219;BC139726;BI906625;CH471139;HQ204946;HQ204947;HQ204948;HQ204949;HQ204950;HQ204951;HQ204952;HQ204953;HQ204954;HQ204955;HQ204956;HQ204957;HQ204958;HQ204960;HQ204961;HQ204962;HQ204963;HQ204964;HQ204965;HQ204966;HQ204968;HQ204969;HQ204970;HQ204971;HQ204972;HQ204973;HQ204974;HQ204975;HQ204976;HQ204977;HQ204978;HQ204979;HQ204980;HQ204981;HQ204982;HQ204983;HQ204984;HQ204985;NG_033142;NM_001276479;NM_001276480;NM_004793;NR_076392;U02389 AAA61616;AAD24414;AAH00235;AAI09219;AAI39727;ABM83881;ABM87201;ADP90374;ADP90375;ADP90376;ADP90377;ADP90378;ADP90379;ADP90380;ADP90381;ADP90382;ADP90383;ADP90384;ADP90385;ADP90386;ADP90388;ADP90389;ADP90390;ADP90391;ADP90392;ADP90393;ADP90394;ADP90396;ADP90397;ADP90398;ADP90399;ADP90400;ADP90401;ADP90402;ADP90403;ADP90404;ADP90405;ADP90406;ADP90407;ADP90408;ADP90409;ADP90410;ADP90411;ADP90412;ADP90413;BAC04829;BAG51690;BAG53290;BAG54587;BAG60732;EAW69151;EAW69152;EAW69153;EAW69154;NP_001263408;NP_001263409;NP_004784;P36776 Hs.350265 1783776;2108401;5017617 LONP1;PRSS15_7943;SHGC-107998 LON;LONP;LonHS;MGC1498;PIM1;PRSS15;hLON Lon protease-like protein;hLON ATP-dependent protease;lon protease homolog, mitochondrial;mitochondrial ATP-dependent protease Lon;mitochondrial lon peptidase 1;mitochondrial lon protease-like protein;protease, serine, 15;serine protease 15 APPROVED protein-coding ENSG00000196365 HGNC:9479 05689 605490 REVIEWED 1351493 LONRF3 LON peptidase N-terminal domain and ring finger 3 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008] X X X q24 118563552 118606769 + 118108577 118152816 + 118974614 119018355 + 6480464;8554872 12477932;14702039;15489334;15761153;15772651;20195357;23898208;8744354 79836 A8K2D3;B3KUN7;H0Y7Q8;Q496Y0 ABBA01036730;AK026265;AK091777;AK097641;AK290198;AL772284;AMYH02040323;BC098283;BC099847;BC100671;BC103491;CH471161;DA249558;NG_012577;NM_001031855;NM_001289109;NM_024778;NR_110311;XM_005262476 AAH99847;AAI00672;AAI03492;BAB15419;BAC03744;BAF82887;BAG53499;EAW89885;EAW89886;EAW89887;EAW89888;NP_001027026;NP_001276038;NP_079054;Q496Y0;XP_005262533 Hs.144266 2217912;5017907 LONRF3;RNF127_2789 FLJ22612;MGC119463;MGC119465;RNF127 LON peptidase N-terminal domain and RING finger protein 3;OTTHUMP00000023893;OTTHUMP00000023894;OTTHUMP00000023895;OTTHUMP00000215170;ring finger protein 127 APPROVED protein-coding ENSG00000175556 HGNC:21152 06708 REVIEWED 1346284 LPAL1 lipoprotein, Lp(a)-like 1 7679504 4019 HGNC:6668 1318447 LOXL4 lysyl oxidase-like 4 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008] 10 10 10 q24 93744493 93764723 - 100007443 100028007 - 98247686 98268250 - 1580863;6480464;8554872 11292829;11691588;11691589;12477932;12686136;12894545;14551188;14702039;15489334;16189514;16385451;17081983;17287949;17671119;18202753;18586005;18949373;19015874;19060904;19199708;21115907;21139048;21163940;21733505;21740577;22806361;23357697;23455924;24357854 84171 Q96JB6 ABBA01021781;AF338441;AF395336;AK025542;AK172781;AL139241;AMYH02023620;AY036093;BC007522;BC013153;BC015656;BC035470;CH471066;NM_032211;W44920;XM_005270216;XM_006718020 AAH07522;AAH13153;AAK64186;AAK71934;AAL27543;ABM81993;ABM85175;BAB15167;BAD18762;EAW49886;NP_115587;Q96JB6;XP_005270273;XP_006718083 Hs.306814;Hs.671890 1685574;1745167;1745961;1782062 GDB:595852;RH124140;RH44848;SHGC-153475 FLJ21889;LOXC OTTHUMP00000020243;lysyl oxidase homolog 4;lysyl oxidase related C;lysyl oxidase-like 4 pseudogene;lysyl oxidase-like protein 4;lysyl oxidase-related protein C APPROVED protein-coding ENSG00000138131 HGNC:17171 09538 607318 REVIEWED 1322239 LOXL3 lysyl oxidase-like 3 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 p13 74591054 74612170 - 74759946 74781088 - 74532258 74553964 - 1580863;6480464;8554872 11284725;11334717;11386757;11642359;12477932;12686136;16096638;16169070;17018530;17287949;19015874;19724858;21740577;23357697 84695 B8ZZT6;B9A025;C9J5M1;E7END4;H7C248;P58215 ABBA01075602;AC005033;AC005041;AF282619;AF284815;AF311313;AK309474;AK309478;AMYH02004091;BC033130;BC071865;CH471053;DA554977;DQ378059;NG_033047;NM_001289164;NM_001289165;NM_032603 AAH33130;AAH71865;AAK51671;AAK63205;AAK91134;AAX93223;ABD23013;EAW99615;EAW99616;NP_001276093;NP_001276094;NP_115992;P58215 Hs.469045 1650052;1672990;1739293;1745961;1746039;1847028;2107273;2189399;5491918 A006U29;BCD2341;D2S1958E;LOXL3__6411;Loxl3;MARC_4349-4350:991938479:1;RH124140;RH125632;RH15974 LOXL OTTHUMP00000160411;OTTHUMP00000202708;OTTHUMP00000202709;OTTHUMP00000202710;lysyl oxidase homolog 3;lysyl oxidase-like protein 3 APPROVED protein-coding ENSG00000115318 HGNC:13869 06200 607163 REVIEWED 1601956 LPAL2 lipoprotein, Lp(a)-like 2, pseudogene Apolipoprotein(a) is the distinguishing protein moiety of lipoprotein(a), of which elevated plasma levels are correlated with an increased risk of atherosclerosis. This gene is similar to the lipoprotein, Lp(a) gene, but all transcripts produced by this gene contain a truncated open reading frame and are candidates for nonsense-mediated decay. Consequently, this gene is considered to be a pseudogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 6 6 6 q26-q27 161539060 161583620 - 160887587 160932156 - 160466555 160511124 - 6480464 12477932;1454851;1554698;16344560;19198611;21493818;21900290;2268308;23036009;24262325;7679504;7749817 80350 Q16609 ABBA01021054;AK125910;AL591069;AMYH02014880;BC110570;CH471051;DB312928;L07899;M62890;M86877;M86878;M90078;M90079;NR_028092;NR_028093;U19517;U19518 AAA35546;AAA35547;AAA36454;AAA51749;AAA85692;AAA85693;AAB49909;AAB66587;AAI66644;EAW47597;EAW47598;Q16609 Hs.654503 2107277 LPAL2__6413 APOA2;MGC129532;RP11-72O9.2 APOAL;APOARGC APPROVED pseudo ENSG00000213071 HGNC:21210 17441 611682 VALIDATED 1323219 LPAR3 lysophosphatidic acid receptor 3 This gene encodes a member of the G protein-coupled receptor family, as well as the EDG family of proteins. This protein functions as a cellular receptor for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This receptor couples predominantly to G(q/11) alpha proteins. [provided by RefSeq, Jul 2008] 1 1 1 p22.3 83522972 83602786 - 85279086 85358896 - 84811602 84893213 - 1580914;1580863;1626471;1626474;6480464;8554872 15258894;16242672;16504475 10488122;10727522;10891327;11093753;11982483;12123830;12477932;12623301;12668280;12884281;15292052;15489334;16754659;17923111;18006645;18029348;18627789;18840781;19001604;19025891;19081821;19420982;19460752;19860625;19899077;21116120;21832049;21964883;22314276;22566634;22763559;22872026;22922883;23064961;23118302;23167620;23508014;23569130;24061591;2834384 23566 Q9NRB8;Q9UBY5 ABBA01045648;ABBA01045649;AC104169;AF127138;AF186380;AF236117;AK308283;AL139150;AMYH02001379;AMYH02001380;AY322547;BC126268;BC126270;BC144021;BU633960;CH471097;JB028787;NM_012152;XM_006710542 AAD56311;AAF00530;AAF91291;AAI26269;AAI26271;AAP84360;CCV20023;EAW73222;NP_036284;Q9UBY5;XP_006710605 Hs.674915 1791920;2107027;2113560;2151938 AL009531;EDG7_7284;MARC_49104-49105:1117559838:1;PMC133668P2 EDG7;Edg-7;FLJ98231;GPCR;HOFNH30;LP-A3;LPA-3;LPA3;RP4-678I3 LPA receptor 3;LPA receptor EDG7;OTTHUMP00000011573;calcium-mobilizing lysophosphatidic acid receptor LP-A3;endothelial cell differentiation gene 7;endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7;lysophosphatidic acid receptor Edg-7 APPROVED protein-coding ENSG00000171517 HGNC:14298 05486 605106 REVIEWED 1350247 LPAR4 lysophosphatidic acid receptor 4 This gene encodes a member of the lysophosphatidic acid receptor family. It may also be related to the P2Y receptors, a family of receptors that bind purine and pyrimidine nucleotides and are coupled to G proteins. The encoded protein may play a role in monocytic differentiation. [provided by RefSeq, Feb 2009] X X X q21.1 78243611 78252993 + 78003206 78014211 + 78747709 78758714 + 1580863;6480464;8554872 11004484;12477932;12724320;15489334;15772651;16147992;16335952;16344560;16754659;18240029;19860625;20069565;20890765;23467751;23824909;8889548;9073069;9223435 2846 Q99677;V9GY74 AA424772;ABBA01030136;AF005419;AK314134;AL590083;AMYH02039831;AU129897;AY301274;BC069996;BC074722;BC095538;BM973092;BX100826;CH471104;DA368656;DA735126;NG_013242;NM_001278000;NM_005296;U66578;U90322;U90323;XM_005262126;XM_006724639 AAB62087;AAB62088;AAB66322;AAC51301;AAH69996;AAH74722;AAH95538;AAP58404;BAG36824;EAW98596;NP_001264929;NP_005287;Q99677;XP_005262183;XP_006724702 Hs.522701 1662316;1787342;1797622;2156268;5093220;5492655 A009J36;G32591;GPR23_2259;RH71250;SHGC-155049;UniSTS:481918 GPR23;LPA-4;LPA4;P2RY9;P2Y5-LIKE;P2Y9 G protein-coupled receptor 23;G-protein coupled receptor 23;LPA receptor 4;P2Y purinoceptor 9;P2Y5-like receptor;purinergic receptor 9 APPROVED protein-coding ENSG00000147145 HGNC:4478 02099 300086 REVIEWED 1348840 LPAR5 lysophosphatidic acid receptor 5 This gene encodes a member of the rhodopsin class of G protein-coupled transmembrane receptors. This protein transmits extracellular signals from lysophosphatidic acid to cells through heterotrimeric G proteins and mediates numerous cellular processes. Many G protein receptors serve as targets for pharmaceutical drugs. Transcript variants of this gene have been described.[provided by RefSeq, Dec 2008] 12 12 12 p13.31 8344855 8362273 - 6728001 6745297 - 6618835 6636131 - 1580863;6480464;8554872 11062477;11574155;12044878;12477932;15489334;16651401;16774927;17920662;18499677;19366702;19860625;20069565;21464938;21832242;24632199 57121 Q5KU18;Q9H1C0 AB041943;AB083600;ABBA01017648;ABBA01017649;ABBA01017650;AC135892;AF411112;AJ272207;AK313127;AMYH02025953;BC033571;BC072394;CH471116;CQ859776;DC328599;DC329320;HQ995529;NM_001142961;NM_020400 AAH33571;AAH72394;AAL26483;ABM83823;ABM87144;ADZ31974;BAB89313;BAD83597;BAG35947;CAC03715;CAH25938;EAW88775;EAW88776;NP_001136433;NP_065133;Q9H1C0 Hs.155538 1848712 SHGC-31323 GPR92;GPR93;KPG_010;LPA-5;LPA5 G protein-coupled receptor 92;G-protein coupled receptor 92;G-protein coupled receptor 93;LPA receptor 5;OTTHUMP00000239241 APPROVED protein-coding ENSG00000184574 HGNC:13307 09495 606926 REVIEWED 731581 LPAR1 lysophosphatidic acid receptor 1 The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Two transcript variants encoding the same protein have been identified for this gene [provided by RefSeq, Jul 2008] 9 9 9 q31.3 84135330 84299600 - 113635542 113801523 - 110873262 111039243 - 1580863;1626474;1626471;2317680;2317696;6480464;8554872 16242672;16504475;17026968;19000703 11093753;11948806;12123830;12393875;12477932;12668728;12670925;12761501;14688263;14696401;14702039;15208267;15292052;15489334;15755723;16263766;16716145;16754659;16809448;17496233;17531530;17923111;18006645;18089565;18089805;18325907;18577758;18617617;18625619;18627789;18703779;18754873;19025891;19081821;19306925;19420982;19853236;19860625;19899077;19913121;20628086;20659327;20708100;20881960;21116120;21234797;21738480;21971049;21978933;21988832;22021336;22659570;22797060;22824789;23017203;23291589;23569130;23838008;24061591;8922387;9069262;9070858;9600933;9804623;9893266 1902 B1AP63;B4DK36;B4DQ18;Q5VZX0;Q92633 ABBA01042740;ABBA01042741;ABBA01042742;ABBA01042743;AC007157;AK022808;AK290287;AK296374;AK298590;AK299279;AL157881;AL442064;AMYH02021469;AMYH02021470;AMYH02021471;AX085538;AX882309;AY322546;BC030615;BC036034;BC073167;BI461641;CH471105;NM_001401;NM_057159;U78192;U80811;XM_005251781;XM_005251782;Y09479 AAC00530;AAC51139;AAH30615;AAH36034;AAH73167;AAP84359;BAF82976;BAG51118;BAG59048;BAG60780;BAG61296;CAA70686;CAA70687;CAC34034;CAE91525;EAW59068;EAW59069;NP_001392;NP_476500;Q92633;XP_005251838;XP_005251839 Hs.126667 1646637;1687954;1700268;1770203;1787172;2119221;2122455;2133402;2136426;2147999;2187619;2217284 AFM317zf1;D9S1040E;EDG2_3612;G10384;G19228;RH103751;RH66299;RH91223;SHGC-172279;SHGC-37372;T03432;WI-17785 EDG2;GPR26;Gpcr26;LPA-1;LPA1;Mrec1.3;VZG1;edg-2;rec.1.3;vzg-1 LPA receptor 1;OTTHUMP00000021903;OTTHUMP00000021904;OTTHUMP00000021905;endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2;lysophosphatidic acid receptor Edg-2;ventricular zone gene 1 APPROVED protein-coding ENSG00000198121 HGNC:3166 03790 602282 REVIEWED 1312931 LPAR2 lysophosphatidic acid receptor 2 This gene encodes a member of family I of the G protein-coupled receptors, as well as the EDG family of proteins. This protein functions as a lysophosphatidic acid (LPA) receptor and contributes to Ca2+ mobilization, a critical cellular response to LPA in cells, through association with Gi and Gq proteins. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 p12 19638539 19643114 - 19734464 19739039 - 19623655 19628230 - 1580863;6480464;8554872 10537322;10729222;10818441;10922489;10954727;11024010;11093753;12123830;12477932;12668280;12759391;14688263;14702039;15057824;15143197;15489334;15535846;15728708;15755723;16147992;16203867;16341674;16344560;16754659;16904289;17496233;17765657;17965021;18703779;18754873;18976975;19001604;19025891;19081821;19116446;19293149;19306925;19860625;19899077;20890765;21134377;21234797;21964883;22359512;23084965;23275563;23569130;23974872;24061591;24613836;2834384;9525886;9804623 9170 K7EJJ9;K7ELJ6;K7ENG7;K7ER68;Q9HBW0 ABBA01051337;AC002306;AC011458;AF011466;AF197929;AF233092;AK123043;AK316573;AMYH02035760;AU133824;AY322548;BC025695;BM840024;CH471106;JB028785;NM_004720 AAB61528;AAC27728;AAF43409;AAG28521;AAH25695;AAP84361;BAG38162;BAG53861;CCV20022;EAW84836;EAW84837;NP_004711;Q9HBW0 Hs.122575 5017809 EDG4 EDG-4;EDG4;FLJ93869;LPA-2;LPA2 G protein-coupled receptor;LPA receptor 2;LPA receptor EDG4;endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4;lysophosphatidic acid receptor EDG4;lysophosphatidic acid receptor Edg-4 APPROVED protein-coding ENSG00000064547 HGNC:3168 605110 REVIEWED 1318201 LOXL2 lysyl oxidase-like 2 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008] 8 8 8 p21.3 22116981 22224289 - 23154410 23261722 - 23296897 23404209 - 1580863;6480464;8554872 10212285;11162352;11642359;12477932;12670920;12686136;12820424;14702039;15489334;16023247;16096638;17170699;17287949;18559498;18590575;19015874;19383344;19394199;19625348;19724858;20012301;20026874;20043065;20306300;20439985;20732625;20802105;21233336;21519871;21732535;21740577;21835952;22204712;22483618;22739041;23030485;23319596;23357697;23494965;23640157;23677379;23933800;24008674;24014025;24654937;8125298;9079631;9722957 4017 E5RFE2;E5RFY0;E5RHH3;E5RI22;E5RJL2;H0YAP6;H0YAR1;Q9Y4K0;R4GMS2 ABBA01005540;ABBA01005541;ABBA01005542;AC090197;AC104561;AF117949;AK098436;AK124508;AK222477;AK293292;AK312266;AMYH02017608;AMYH02017609;AMYH02017610;AMYH02017611;BC000594;BC020481;CH471080;KF928961;KF975332;NM_002318;U89942 AAB49697;AAD34343;AAH00594;ABM83611;ABM86855;AHJ59530;AHL69790;BAD96197;BAG35197;BAG56815;EAW63625;EAW63626;EAW63627;NP_002309;Q9Y4K0 Hs.626637 1336279;1720507;1745961;1761717;1762239;2110489;2119658 D16S3138;G59207;LOXL2__6410;RH124140;SHGC-145691;SHGC-146104;STS-U89942 LOR2;WS9-14 OTTHUMP00000224942;lysyl oxidase homolog 2;lysyl oxidase related 2;lysyl oxidase-like 2 delta e13;lysyl oxidase-like protein 2;lysyl oxidase-related protein 2;lysyl oxidase-related protein WS9-14 APPROVED protein-coding ENSG00000134013 HGNC:6666 09446 606663 REVIEWED 1602676 LPCAT1 lysophosphatidylcholine acyltransferase 1 Lysophosphatidylcholine (LPC) acyltransferase (LPCAT; EC 2.3.1.23) catalyzes the conversion of LPC to phosphatidylcholine (PC) in the remodeling pathway of PC biosynthesis (Nakanishi et al., 2006 [PubMed 16704971]).[supplied by OMIM, May 2008] 5 5 5 p15.33 1499585 1562101 - 1461542 1525644 - 1461427 1523961 - 6480464;6907045;8554872 12477932;12693554;14702039;15489334;16449650;16704971;18029348;18156367;18974965;19322201;19383981;19946888;20407208;21139048;21498505;21726808;21857022;22101258;22939629;22990118;23000965;23455922;23567080;23602568;23941784;24250222;24816145;8619474;9110174 79888 D3DTC2;Q8NF37 AB244719;ABBA01034202;ABBA01034203;AC026748;AC091849;AF052162;AF530061;AK022499;AK022505;AK090444;AK095552;AK123603;AL831864;AMYH02010765;AMYH02010766;BC002543;BC020166;BQ961819;BU539058;CH471102;NM_024830;XM_005248373 AAH20166;AAI40368;AAQ09945;BAB14061;BAB14065;BAC03425;BAE94688;CAD38556;EAX08154;EAX08155;EAX08156;NP_079106;Q8NF37;XP_005248430 Hs.368853 1646795;1735518;1740475;1785444;2169363 A003B27;D5S1652E;D5S2269E;NIB2003;SHGC-145778 AYTL2;FLJ12443;FLJ41609;PFAAP3;lpcat 1-acylglycerophosphocholine O-acyltransferase;1-alkylglycerophosphocholine O-acetyltransferase;LPC acyltransferase 1;LPCAT-1;OTTHUMP00000190886;OTTHUMP00000220660;acetyl-CoA:lyso-PAF acetyltransferase;acetyl-CoA:lyso-platelet-activating factor acetyltransferase;acyl-CoA:lysophosphatidylcholine acyltransferase 1;acyltransferase like 2;acyltransferase-like 2;lyso-PAF acetyltransferase;lysoPAFAT;lysoPC acyltransferase 1;phosphonoformate immuno-associated protein 3;regulated by phosphonoformate APPROVED protein-coding ENSG00000153395 HGNC:25718 08572 610472 VALIDATED 1606279 LPCAT2 lysophosphatidylcholine acyltransferase 2 This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009] 16 16 16 q12.2 40057142 40134813 + 55542913 55620582 + 55509001 55586670 + 6480464;6907045 12477932;14702039;15489334;17182612;18029348;19913121;20363836;20379614;20628086;21048031;21498505;21565611;21890473;21906983;21963094;23408906;23844124 54947 H3BU68;Q7L5N7 AB244718;ABBA01066525;AC007336;AC026802;AI915099;AK000488;AK023271;AK308386;AMYH02032075;AMYH02032076;AW366682;BC002472;BC005981;BG772279;BX641069;CH471092;JA738663;NM_017839;XM_005256006;XM_006721211 AAH02472;ACE86445;ACE87121;BAA91199;BAF47696;CAE46034;CCF76984;EAW82829;NP_060309;Q7L5N7;XP_005256063;XP_006721274 Hs.460857 1678895;1724351;1736538;5118444 D11S3316;D16S2539E;RH119098;RH94125 1-AGPAT 11;AYTL1;DKFZp686H22112;FLJ20481;LPCAT-2 1-AGP acyltransferase 11;1-acylglycerol-3-phosphate O-acyltransferase 11;1-acylglycerophosphocholine O-acyltransferase;1-alkylglycerophosphocholine O-acetyltransferase;LPAAT-alpha;LPC acyltransferase 2;LysoPAFAT;OTTHUMP00000164315;acetyl-CoA:lyso-PAF acetyltransferase;acetyl-CoA:lyso-platelet-activating factor acetyltransferase;acyl-CoA:lysophosphatidylcholine acyltransferase 2;acyltransferase like 1;acyltransferase-like 1;lyso-PAF acetyltransferase;lyso-platelet-activating factor (PAF) acetyltransferase;lysoPC acyltransferase 2;lysophosphatidic acid acyltransferase alpha APPROVED protein-coding ENSG00000087253 HGNC:26032 07913 612040 REVIEWED 1349646 LPAR6 lysophosphatidic acid receptor 6 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 13 13 13 q14 30039912 30073567 - 48985181 49018840 - 48411045 48444704 - 1580863;6480464;7240710;8554872;8699517 10737800;11004484;12477932;14702039;15057823;15489334;15582581;16754659;18240029;18297070;18297072;18461368;18577758;18692127;18803659;18830268;19061667;19292720;19386608;19529952;21048031;21426374;22385360;22531990;22621192;23084965;23773027;7902321;8125298;8889552;9240460;9755289 10161 B3KVQ5;P43657 ABBA01051006;AF000546;AF551763;AK122856;AK123059;AK223389;AL136960;AL392048;AMYH02028003;BC039373;BC040850;BC045651;BC054346;BC070295;BC106756;BF950635;BF951153;BQ006077;BX537392;BX537438;BX537445;BX647109;CH471075;HQ995530;JF810890;L78805;NG_009009;NG_012874;NM_001162497;NM_001162498;NM_005767 AAB62190;AAH40850;AAH45651;AAH70295;AAI06757;AAL40065;AAN64134;ACE86673;ACE87357;ADZ31975;AEP43757;BAD97109;BAG53764;BAG53867;CAD97634;CAD97680;CAD97687;EAX08796;EAX08797;NP_001155969;NP_001155970;NP_005758;P43657 Hs.123464 1654934;5493151 RH17879;UniSTS:484469 ARWH1;HYPT8;LAH3;LPA-6;MGC120358;P2RY5;P2Y5 G-protein coupled purinergic receptor P2Y5;LPA receptor 6;OTTHUMP00000018396;OTTHUMP00000178634;P2Y purinoceptor 5;RB intron encoded G-protein coupled receptor;oleoyl-L-alpha-lysophosphatidic acid receptor;purinergic receptor 5;purinergic receptor P2Y G protein-coupled protein 5;purinergic receptor P2Y, G-protein coupled, 5 APPROVED protein-coding ENSG00000139679 HGNC:15520 16465 278150;609239 REVIEWED 1604192 LPCAT4 lysophosphatidylcholine acyltransferase 4 Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM, May 2008] 15 15 15 q14 11456123 11464429 - 34651089 34659397 - 34358888 34367196 - 6480464;6907045;8554872 12477932;14702039;15489334;16243729;18458083;19322201;19946888;21906983;23815430;7566098;8619474;9110174 254531 H3BMK4;Q643R3 ABBA01038535;AC025678;AF007155;AF529233;AF542964;AK001119;AK290273;AK308910;AL832237;AMYH02030162;AY734233;BC024892;BC028209;BC048430;BC092463;BC144236;CH471125;NM_153613;T29943;XM_006720454;XR_243087;XR_243088 AAC19156;AAH24892;AAH92463;AAI44237;AAN33178;AAP97722;AAU34184;BAF82962;EAW92306;EAW92307;EAW92308;NP_705841;Q643R3;XP_006720517 Hs.352614 1698728 RH102924 AGPAT7;AYTL3;FLJ10257;LPAAT-eta;LPEAT2 1-AGP acyltransferase 7;1-AGPAT 7;1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta);1-acylglycerophosphocholine O-acyltransferase;1-acylglycerophosphoserine O-acyltransferase;1-alkenylglycerophosphoethanolamine O-acyltransferase;1-alkylglycerophosphocholine O-acetyltransferase;PLSC domain containing protein;acyl-CoA:lysophosphatidylethanolamine acyltransferase 2;acyltransferase like 3;acyltransferase-like 3;lysophosphatidylethanolamine acyltransferase 2;lysophospholipid acyltransferase LPCAT4;plasmalogen synthase APPROVED protein-coding ENSG00000176454 HGNC:30059 08315 612039 VALIDATED 1353817 LPGAT1 lysophosphatidylglycerol acyltransferase 1 Acyl-CoA:lysophosphatidylglycerol (LPG) acyltransferase catalyzes the reacylation of LPG to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin (Yang et al., 2004 [PubMed 15485873]).[supplied by OMIM, Mar 2008] 1 1 1 q32 185143875 185229750 - 211916799 212048531 - 211743457 211875189 - 1580863;6480464;6907045;8554872 10942595;12477932;15485873;15489334;17207965;19322201;19946888;21890473;21903422;21906983;23362303;23464991;23505186;9039502;9637538 9926 Q92604 ABBA01048187;AC096637;AI264005;AL445488;AMYH02002629;AY561706;BC034621;CH471100;D86960;NM_014873;XM_005273362;XM_005273363;XM_005273364;XM_006711695 AAH34621;AAS66979;ADQ32322;BAA13196;EAW93407;EAW93408;NP_055688;Q92604;XP_005273419;XP_005273420;XP_005273421;XP_006711758 Hs.744851 1673732;1694616;2161418;2163772;2170681;2170683;5037552;5123907 A005L30;D8S2279;G20313;G43326;RH78177;SHGC-76298;SHGC-76302;SHGC-76307 FAM34A;FAM34A1;NET8 OTTHUMP00000035214;OTTHUMP00000035215;acyl-CoA:lysophosphatidylglycerol acyltransferase 1;family with sequence similarity 34, member A APPROVED protein-coding ENSG00000123684 HGNC:28985 14304 610473 VALIDATED 1351682 LPGP1 lipogenic protein 1 4021 HGNC:6675 1348408 LPGAT1P1 lysophosphatidylglycerol acyltransferase 1 pseudogene 1 8 8 8 p12 29801024 29801886 - 30840975 30841837 - 30983459 30984321 - 100129398;404667 ABBA01023647;AC008066;AMYH02017725;NG_022384 1706878;2112034 D8S2158;SHGC-80925 FAM34A2P;FAM34BP pseudo HGNC:31402 INFERRED 8656310 LPHN3-AS1 LPHN3 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 62985946 63027481 - 62071755 62165554 - 8554872 101927186 ABBA01022836;AC007511;AMYH02009328;DB518756;HG496945;HG496946;HG496947;HG496948;NR_110595;XR_425737;XR_427554;XR_431726 Hs.723269 ncrna ENSG00000248692 HGNC:50604 VALIDATED 3563725 LPCAT2BP lysophosphatidylcholine acyltransferase 2b, pseudogene INTERACTS WITH paracetamol (ortholog); potassium dichromate (ortholog) 1 1 1 p22.1 90778456 90779769 + 92532017 92533330 + 92066460 92067773 + 6480464 20210993 100128094 ABBA01045554;AC104836;AMYH02001477;NG_022792 pseudo HGNC:38003 INFERRED 1604396 LPCAT3 lysophosphatidylcholine acyltransferase 3 ENCODES a protein that exhibits 1-acylglycerophosphocholine O-acyltransferase activity; INVOLVED IN glycerophospholipid biosynthetic process (inferred); metabolic process (inferred); phosphatidylcholine acyl-chain remodeling (inferred); PARTICIPATES IN glycerophospholipid metabolic pathway; FOUND IN membrane; INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 12 12 12 p13 8706367 8748731 - 7085347 7125842 - 6976185 7018538 - 6480464;6907045 10446276;11076863;11230166;12477932;14702039;15489334;15489336;16344560;16381901;16541075;18195019;18772128;18781350;18782225;19351971;19946888;20018618;20837115;21139048;21890473;21906983;23580142;24250222;24816145;8723724;9074930 10162 B7Z3N5;F5GYT3;F5H0M4;F5H680;F5H7K7;Q6P1A2 ABBA01017670;ABBA01017671;AC006512;AK058063;AK096775;AK296145;AK296164;AK296171;AK311727;AK315538;AMYH02025958;AMYH02025959;AMYH02025960;AU125262;BC000664;BC065194;BT007000;BX647983;BX648009;CH471116;NM_005768;U47924;U72515 AAB51326;AAC51640;AAH00664;AAH65194;AAP35646;BAG37917;BAH12269;BAH12270;BAH12271;CAL38149;EAW88691;EAW88692;EAW88693;NP_005759;Q6P1A2 Hs.655248 1653654;1658902;1665352;1680305;2144626;2147127;2219042;5024756;5094020 C3F__4486;D12S1206E;G33059;RH11325;RH26657;RH44811;RH47084;RH80030;SHGC-33346 C3F;LPCAT;LPLAT 5;LPSAT;MBOAT5;OACT5 1-acylglycerophosphocholine O-acyltransferase;1-acylglycerophosphoserine O-acyltransferase;O-acyltransferase (membrane bound) domain containing 5;O-acyltransferase domain-containing protein 5;OTTHUMP00000239848;OTTHUMP00000239849;lyso-PC acyltransferase 3;lyso-PS acyltransferase;lysophosphatidylserine acyltransferase;lysophospholipid acyltransferase 5;membrane bound O-acyltransferase domain containing 5;membrane-bound O-acyltransferase domain-containing protein 5;nessy;putative protein similar to nessy protein-coding ENSG00000111684 HGNC:30244 12816 611950 VALIDATED 1343679 LPA lipoprotein, Lp(a) The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009] 6 6 6 q26 161603977 161685098 - 160952506 161097478 - 160531483 160666375 - 1580863;5509899;5509903;5509904;5509909;5509912;5509908;5509910;5509894;5509891;5509897;5509915;5509916;5509091;5509907;5509911;5509914;6480464;7240710;8699517;8554872 10764684;12894903;1440702;14656611;15211075;15748240;16643992;18775538;20026018;20124324;20303190;21484527;21523363;22056596;7702412;9736419 10073957;10187779;10484779;10672142;10980194;11126727;11285247;11294842;11332648;11440434;11485023;11816712;11822583;11833851;11865151;11947970;11999088;12082592;12111551;12127051;12220441;12359323;12482643;12562843;12578871;12738397;12940514;14718574;14746139;15041277;15258620;15479125;15515480;15523644;15543335;15654123;15708348;15905467;15983325;16053196;16113787;16122830;16150826;16197951;16202171;16403785;16497311;16625232;16840570;16893192;17145597;17460176;17462619;17478739;17537433;17569884;17603063;17683612;17845920;17908332;17923276;17942087;17975119;18086931;18163888;18198982;18280807;18304554;18386550;18464913;18479303;18513389;18560444;18582452;18594118;18599799;18622136;18660489;18682748;18682798;18776185;18806883;18848929;18983515;19014618;19023099;19124843;19131662;19198611;19208510;19222374;19233690;19263529;19335423;19348789;19349573;19479237;19496273;19509380;19545557;19564206;19572086;19636317;19642912;19646429;19672030;19808717;19880117;19913121;19948975;20014954;20032323;20036902;20106478;20129380;20129381;20129382;20129383;20143106;20160194;20197188;20379614;20444451;20452482;20580413;20593350;20601648;20605575;20628086;20673868;20679960;20686565;20691971;20705065;20971364;21078622;21086792;21127300;21149283;21153771;21179199;21231777;21252144;21283670;21300353;21378990;21404224;21473861;21493818;21519277;21592478;21749171;21802535;21900290;21907882;21914687;21914962;21970553;21986921;22010162;22134617;22192511;22207727;22283971;22327610;22331829;22368281;22387060;22407494;22422337;22485129;22516069;22633661;22633779;22710560;22748161;22753196;22762941;23010950;23036009;23040268;23099120;23118302;23137279;23165148;23183511;23202367;23243000;23357149;23375930;23388002;23484137;23652366;23667177;23701863;23701995;23726366;23735648;23903772;23914433;23951216;23973688;23978127;24083682;24089516;24092750;24097068;24161323;24243886;24262325;24356104;24632281;24839811;2530631;2531657;3410459;3670400;7918682;8047165;8642595;8864963;9111002;9269765;9548923;9717723;9925657 4018 P08519;Q9UKJ7 ABBA01015158;ABBA01021051;ABBA01021052;ABBA01021053;ABBA01021054;AF158656;AF158657;AF158661;AF158663;AL109933;AL596089;AMYH02014880;AMYH02014881;AMYH02014882;AMYH02014883;AMYH02014884;AMYH02014885;AMYH02014886;AMYH02014887;AY039748;CH471051;DQ452068;NG_016147;NM_005577;X06290 AAF03676;AAF03677;AAF03679;AAF03680;AAK74187;ABF47086;CAA29618;EAW47596;NP_005568;P08519 Hs.520120 1338682;1658657;1704326;1745139;2107277;2145080;2154859 D6S1423;D6S1579;D6S1951;GDB:595276;LPAL2__6413;SHGC-83306;STS-X06290 AK38;APOA;LP;apo(a);lp(a) OTTHUMP00000017543;antiangiogenic AK38 protein;apolipoprotein(a) APPROVED protein-coding ENSG00000198670 HGNC:6667 01063 152200 REVIEWED 733163 LPHN1 latrophilin 1 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Oct 2008] 19 19 19 p13.2 14152822 14211284 - 14258549 14316997 - 14147737 14206185 - 1580863;2314400;6480464;8554872 12225880 10048485;10958799;10964907;10994649;11520923;12477932;14702039;15066411;15144186;15203201;15489334;19322201;20400778;20936779;20971062;21078624;21906983 22859 K7EK47;K7ERC3;K7ESH3;O94910 AB020628;AB065919;ABBA01029684;ABBA01029685;ABBA01029686;ABBA01029687;ABBA01029688;AC011509;AC022098;AF307079;AK022001;AMYH02035607;BC002974;BC007587;BC013275;BC019928;BC028296;BC052627;BC072445;BC090949;CH471106;NM_001008701;NM_014921;XM_005259818;XM_005259819;XM_006722688;XM_006722689;XM_006722690 AAG27461;AAH02974;AAH07587;AAH28296;AAI68378;BAA74844;BAB13950;BAC06134;EAW84404;EAW84405;EAW84406;EAW84407;EAW84408;EAW84409;NP_001008701;NP_055736;O94910;XP_005259875;XP_005259876;XP_006722751;XP_006722752;XP_006722753 Hs.94229 1648815;1685045;1734718;2109475;2120776;5111967;5491282 A003B10;D19S706E;G43524;LPHN1__6414;RH15904;RH71187;Vsx1 CIRL-1;CIRL1;CL1;LEC2 calcium-independent alpha-latrotoxin receptor 1;cl1ba protein;latrophilin-1;lectomedin-2 APPROVED protein-coding ENSG00000072071 HGNC:20973 14305 REVIEWED 732054 LPHN2 latrophilin 2 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 p31.1 80498753 80690763 + 82266082 82458107 + 81579300 81992423 + 1580863;6480464;8554872 10030676;10760572;10964907;10994649;11520923;12477932;15066411;15203201;16710414;17456239;17903293;21139048;21988832;22085899;22832960;23251661;23464991;23934736;8889548;9872452 23266 B1ALU1;B1ALU3;H0Y3V3;H0Y5C0;O95490 AB018329;ABBA01074352;AC113949;AC117944;AF104266;AF104938;AF104939;AJ131581;AJ242517;AJ242518;AJ244492;AJ244493;AJ244494;AJ244495;AJ244496;AJ244497;AJ244498;AJ244499;AJ244500;AJ244501;AJ244502;AJ244503;AJ244504;AJ244505;AJ244506;AJ244507;AJ244508;AJ244509;AJ244510;AJ244511;AJ244512;AJ244513;AJ244514;AJ244515;AJ244516;AK123422;AL138799;AL157903;AL358939;AL359705;AMYH02001358;AW008295;BC031321;BM983870;CH471059;DQ925675;KF454971;KF510734;NM_001297704;NM_001297705;NM_001297706;NM_012302;XM_005270666;XM_005270667;XM_005270668;XM_005270670;XM_005270673;XM_005270674;XM_006710485;XM_006710486;XM_006710487;XM_006710488;XM_006710489;XM_006710490;XM_006710491;XM_006710492;XM_006710493;XM_006710494;XM_006710495;XM_006710496;XM_006710497;XR_246350;XR_246351;XR_248785;XR_248786;XR_250767;XR_250768 AAD54675;AAD54676;AAD54677;ABL59902;BAA34506;BAG53903;CAA10458;CAB60201;CAB60202;CAB60203;CAB60204;CAB60205;CAB60206;CAB60207;CAB60229;EAX06321;EAX06322;EAX06323;EAX06324;EAX06325;EAX06326;EAX06327;EAX06328;EAX06329;EAX06330;EAX06331;EAX06332;EAX06333;EAX06334;EAX06335;EAX06336;EAX06337;EAX06338;EAX06339;EAX06340;EAX06341;NP_001284633;NP_001284634;NP_001284635;NP_036434;O95490;XP_005270723;XP_005270724;XP_005270725;XP_005270727;XP_005270730;XP_005270731;XP_006710548;XP_006710549;XP_006710550;XP_006710551;XP_006710552;XP_006710553;XP_006710554;XP_006710555;XP_006710556;XP_006710557;XP_006710558;XP_006710559;XP_006710560 Hs.24212;Hs.649282 1335117;1664347;1673133;1692482;1693124;1740743;1751433;1776443;2140827;2142976;2160858;2186138;2191057;5094888;5120946 AL009673;AL010037;AL010067;AL033892;AL034278;D1S2856;D1S3237;LPHN2;MARC_13861-13862:1007063395:1;RH46315;SHGC-105258;SHGC-36772;SHGC-75052;SHGC-75058;WI-11936 CIRL-2;CIRL2;CL2;LEC1;LPHH1 OTTHUMP00000011441;OTTHUMP00000011442;OTTHUMP00000011443;OTTHUMP00000011444;OTTHUMP00000011445;OTTHUMP00000011447;OTTHUMP00000011448;OTTHUMP00000011449;OTTHUMP00000011450;OTTHUMP00000011451;OTTHUMP00000011452;calcium-independent alpha-latrotoxin receptor 2;latrophilin 1;latrophilin homolog 1;latrophilin homolog 2 (cow);latrophilin-2;lectomedin-1 APPROVED protein-coding ENSG00000117114 HGNC:18582 06116 607018 REVIEWED 6481386 LPP-AS1 LPP antisense RNA 1 3 q28 188562237 188568666 - 100873917 ABBA01058354;AC063932;AMYH02008389;AW592678;NG_016932;NR_046623 Hs.674993 APPROVED ncrna ENSG00000224563 HGNC:40346 VALIDATED 1353351 LPHN3 latrophilin 3 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. [provided by RefSeq, Jul 2008] 4 4 4 q13.1 59821669 60396265 + 62066949 62938168 + 61497121 62072450 + 2314400;6480464;8554872 12225880 10964907;10994649;11520923;12477932;14702039;15066411;15203201;19043545;19260141;20157310;20379614;20522523;20677014;21040458;21107309;21184580;21432600;21606926;22105624;22405201;22486528;22575564;22832519;23000965;23245769;23317273;7937745;9847074;9872452 23284 E7EMR3;E7EN28;E7ENK1;E7ES20;E7ESV6;E7ETE3;E7EUP0;E7EUW2;E7EVD6;E7EW95;E7EX52;E9PBG4;H0Y9K5;Q9HAR2 AB018311;ABBA01022830;ABBA01022831;ABBA01022832;ABBA01022833;ABBA01022834;ABBA01022835;ABBA01022836;AC007511;AC020741;AC092663;AC092668;AC096723;AC104813;AC108161;AC225889;AK000781;AK094703;AK294689;AK299651;AK309793;AMYH02009320;AMYH02009321;AMYH02009322;AMYH02009323;AMYH02009324;AMYH02009325;AMYH02009326;AMYH02009327;AMYH02009328;BC039452;CH471057;KF457762;KF457763;NG_033950;NM_015236;XM_006714153;XM_006714154;XM_006714155;XM_006714156 AAY40992;BAA34488;BAA91375;BAH11848;BAH13089;EAX05525;EAX05526;EAX05527;EAX05528;EAX05529;EAX05530;NP_056051;Q9HAR2;XP_006714216;XP_006714217;XP_006714218;XP_006714219 Hs.28391;Hs.570770 1298324;1336129;1644674;1657684;1663910;1668085;1673653;1680753;1705650;1719245;1727787;1730125;1735392;1753555;1761295;1767317;1778506;1855691;2014492;2109477;2118941;2133236;2135202;2140993;2141732;2144849;2149954;2150850;2151711;2155484;2161815;2164205;2166023;2173748;2179143;7183402;7186325 1754;A004G27;D20S1010;D4S1017;D4S1600;D4S2559E;D4S2778E;D4S3085;D4S399;D4S472;D4S528;D4S586;G01805;G09520;G16255;G63159;HUMXT00114;LPHN3_9332;REN78185;RH123343;RH36109;SHGC-107457;SHGC-14245;SHGC-145295;SHGC-32352;SHGC-34181;SHGC-50484;SHGC-51538;SHGC-59823;SHGC-59839;SHGC-63452;SHGC-83398;SHGC4-1183;WI-14844;WI-21794 CIRL-3;CIRL3;LEC3 OTTHUMP00000218740;OTTHUMP00000218742;OTTHUMP00000218743;OTTHUMP00000218744;OTTHUMP00000218745;OTTHUMP00000218746;OTTHUMP00000218747;OTTHUMP00000218748;OTTHUMP00000218749;OTTHUMP00000218750;OTTHUMP00000218751;OTTHUMP00000218752;OTTHUMP00000218753;OTTHUMP00000218754;calcium-independent alpha-latrotoxin receptor 3;latrophilin homolog 3 (cow);latrophilin-3;lectomedin 3 APPROVED protein-coding ENSG00000150471 HGNC:20974 10055 REVIEWED 1320729 LPO lactoperoxidase This gene encodes an oxidoreductase secreted from salivary, mammary, and other mucosal glands that functions as a natural antibacterial agent. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 17 17 17 q23.1 52777558 52807657 + 56315787 56345879 + 58238426 58268518 + 1580863;6480464;8554872 10715594;10814547;10828600;12477932;12584448;12626341;15384204;15489334;15894800;16344560;16740002;19059195;19199708;19423540;19505917;20237496;20406964;20438785;21139048;2222811;23382691;8964511;9030719 4025 F5H386;H0Y3I2;J3KT11;J3QSD8;P22079 ABBA01041328;ABBA01041329;AC004687;AC005962;AF027971;AK131496;AK300653;AK303903;AK308378;AK310965;AMYH02033687;AY324876;BC107166;BC107167;BX487327;BX538344;BX648309;CH471109;DB230339;EF579964;M58151;NM_001160102;NM_006151;NR_027647;U39573 AAA63213;AAC50717;AAG38481;AAI07167;AAI07168;AAP72968;ABQ53140;BAG62341;BAG64833;CAD98107;EAW94474;EAW94475;NP_001153574;NP_006142;P22079 Hs.234742 1336134;1341644;1693446;1718563;2145426;2219906;5022651 D11S2921;D17S1161;D17S1290;G42386;LPO__6416;RH122485;STS-M58151 MGC129990;MGC129991;SPO salivary peroxidase APPROVED protein-coding ENSG00000167419 HGNC:6678 11825 150205 REVIEWED 5144617 LPP-AS2 LPP antisense RNA 2 INTERACTS WITH valproic acid 3 3 3 q27.3 186299475 186302359 - 187868994 187871876 - 188151206 188154088 - 6480464 12477932 339929 ABBA01058361;AC022498;AMYH02008377;BC042414;NG_016932;NR_036497 Hs.596639 APPROVED ncrna ENSG00000270959 HGNC:27952 VALIDATED 1312114 LPIN2 lipin 2 Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008] 18 18 18 p11.31 2792438 2887255 - 2916992 3013313 - 2916994 3013315 - 1580863;6480464;7240710;8554872 10884287;11138012;12477932;15862761;15994876;17081983;17804763;18694939;19136718;19717560;20032092;20301735;20379614;20735359;21139048;21490949;22321011;22334674;22481384;23087183;23517042;24324551;2722772;8944226;9039502 9663 J3KTK1;J3QQN0;Q92539 ABBA01049839;ABBA01049840;ABBA01049841;AMYH02034216;AMYH02034217;AMYH02034218;AP000919;AP005431;BC152448;BQ014306;CH471113;D87436;KF456341;NG_007507;NM_014646;XM_005258177;XM_005258178;XM_005258179;XM_006722368;XR_243814 AAI52449;AAI60018;BAA13380;EAX01686;EAX01687;NP_055461;Q92539;XP_005258234;XP_005258235;XP_005258236;XP_006722431 Hs.132342 1667123;1671161;1689839;1698322;1710588;1722319;1846643;1854181;2108815;2132870;2138093;2141678;2162275;2164354;2186675 A006I48;A008A48;G29225;G60225;HSC1YH092;LPIN2_8975;RH102701;RH46193;RH8145;SHGC-82401;STS-R01450;STS-T69724;WI-15441;WIAF-1505;WIAF-2076 KIAA0249 OTTHUMP00000162242;lipin-2;phosphatidate phosphatase LPIN2 APPROVED protein-coding ENSG00000101577 HGNC:14450 16114 605519;609628 REVIEWED 1342644 LPIN3 lipin 3 The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] 20 20 20 q12 36680226 36699888 + 39969495 39989222 + 41340797 41360582 + 1580863;6480464 10884287;11138012;11780052;12477932;20735359;22481384;23263658 64900 H0Y5E1;Q9BQK8 ABBA01052576;ABBA01052577;AL031667;AL132654;AMYH02037088;AMYH02037089;BC140806;BC144598;BX505800;BX647082;BX648609;CH471077;NM_001301860;NM_022896;NR_126051;XM_005260515;XM_005260516;XM_006723859;XM_006723860;XM_006723861;XM_006723862;XM_006723863;XR_430311;XR_430312 AAI40807;EAW75985;EAW75986;NP_001288789;NP_075047;Q9BQK8;XP_005260572;XP_005260573;XP_006723922;XP_006723923;XP_006723924;XP_006723925;XP_006723926 Hs.25897 1336808;2117483;2118468;2183657;2191441 D6S1604;MARC_23321-23322:1024689677:5;RH69661;SHGC-34161;STS-R52161 LIPN3L;SMP2;dJ450M14.2;dJ450M14.3;dJ620E11.2 OTTHUMP00000031711;lipin 3-like;lipin-3;lipin-3-like;phosphatidate phosphatase LPIN3 APPROVED protein-coding ENSG00000132793 HGNC:14451 605520 VALIDATED 1321494 LPP LIM domain containing preferred translocation partner in lipoma This gene encodes a member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 3 3 3 q28 186302146 187042707 + 187871097 188608460 + 188153310 188890671 + 1580863;6480464;6484113;7240710;8699517;8554872 10637295;11066083;11329013;11433529;12063392;12441356;12477932;12505264;12522270;12581855;12615977;12760907;14702039;15144186;15592455;15649318;15951569;16094384;16137684;16169070;16271958;16375854;16397143;16484626;16738319;17322171;18029348;18311140;19073967;19156129;19205907;19236753;19240061;19322201;19693089;19701494;19851299;20190752;20379614;20410501;20647273;20949626;21139048;22075330;22286099;22404213;22589738;22610502;22639458;22797727;22863883;22939629;22951725;23056290;23218918;23251661;23447672;23749188;23817569;23817571;24457600;24465431;24654937;24681953;7670494;8812423;9772904 4026 B7Z8W0;B7ZLW0;C9J1K7;C9J2R5;C9J3U9;C9J4E3;C9J5C8;C9JE51;C9JIY7;C9JT42;C9JUT4;C9JXK9;Q93052 A52566;A79998;AA813328;ABBA01058351;ABBA01058352;ABBA01058353;ABBA01058354;ABBA01058355;ABBA01058356;ABBA01058357;ABBA01058358;ABBA01058359;ABBA01058360;ABBA01058361;AC009319;AC022498;AC055711;AC063932;AC069226;AC069430;AC117507;AI126032;AK055214;AK123506;AK302959;AK304035;AL833171;AMYH02008377;AMYH02008378;AMYH02008379;AMYH02008380;AMYH02008381;AMYH02008382;AMYH02008383;AMYH02008384;AMYH02008385;AMYH02008386;AMYH02008387;AMYH02008388;AMYH02008389;AMYH02008390;AMYH02008391;AMYH02008392;AW301088;AX253466;BC042960;BC130584;BC144076;BG192042;BX474180;BX641108;CD697098;CH471052;CR457074;KF457718;KF510228;NG_016932;NM_001167671;NM_001167672;NM_005578;U29116;U49957;U49968;XM_005247444;XM_005247445;XM_005247446;XM_005247447;XM_005247448;XM_005247450;XM_005247451;XM_005247453;XM_006713637 AAC50738;AAC50739;AAI30585;AAI44077;BAH13857;BAH14096;CAA03407;CAB59169;CAC94500;CAG33355;EAW78127;EAW78128;EAW78129;EAW78130;EAW78131;EAW78132;EAW78133;EAW78134;NP_001161143;NP_001161144;NP_005569;Q93052;XP_005247501;XP_005247502;XP_005247503;XP_005247504;XP_005247505;XP_005247507;XP_005247508;XP_005247510;XP_006713700 Hs.720220 1335556;1336775;1342246;1660469;1673243;1679670;1696048;1700358;1705064;1705212;1705312;1708688;1710758;1717647;1735306;1739047;1753217;1755735;1761039;1771201;1848413;2108209;2121051;2134379;2161952;2178616;2179563;2180621;5014051;5016700;5020948;5022588;5022637;5037552;5095859;5096568;7185070 A004N18;D11S2766;D3S1580;D3S1761;D3S2943E;D3S2973;D3S3104;D3S3245;D3S3596;D3S3961;D3S4143;D5S1597E;D8S2278;D8S2279;G15841;G15999;G16600;G35510;LPP_8442;RH103799;RH122128;RH79802;RH93795;SHGC-110014;SHGC-13234;SHGC-142584;SHGC-144996;SHGC-77606;SHGC-77641;SHGC-78052;SHGC-78075;SHGC-78614;SHGC-81486;SHGC-83198;SHGC-84029;STS-T96174 DKFZp779O0231;FLJ30652;FLJ41512 LIM protein;OTTHUMP00000209793;lipoma-preferred partner APPROVED protein-coding ENSG00000145012 HGNC:6679 02828 600700;601626 REVIEWED 1604322 LPPR2 lipid phosphate phosphatase-related protein type 2 ENCODES a protein that exhibits phosphatidate phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; bisphenol A; diazinon 19 19 19 p13.2 11360936 11371242 + 11466062 11476374 + 11355386 11365698 + 6480464 12477932;14702039;14750979;16344560;24250222;8125298 64748 Q69YU8;Q96GM1 ABBA01029860;AC024575;AK023117;AK094869;AK225482;AL353953;AMYH02035526;AY304516;AY339628;BC009378;CH471106;CR936652;CS300733;DB169285;NM_001170635;NM_022737;XM_005260017 AAH09378;AAP72153;AAQ73540;ABM84418;ABM87435;ABW03584;ABW03585;BAB14414;BAC04443;CAH10684;CAI56790;CAK32397;EAW84200;EAW84201;EAW84202;EAW84203;NP_001164106;NP_073574;Q96GM1;XP_005260074 Hs.6846 1699558;1777606;2219908;5124558 LPPR2__6417;RH103379;RH98197;STS-N51328 DKFZp761E1121;FLJ13055;PRG-4;PRG4 plasticity related gene 4;plasticity-related gene 4 protein protein-coding ENSG00000105520 17442 VALIDATED 1316957 LPIN1 lipin 1 This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their full-length structures have not been determined. [provided by RefSeq, May 2012] 2 2 2 p25.1 11803878 11884673 + 11817705 11967535 + 11677545 11827409 + 1580863;1641826;1641822;6480464;7240710;8699517;8554872 14718385;17563064 10644441;10884287;11138012;11792863;12111372;12477932;14702039;15342556;15489334;16344560;16357106;16467296;16950137;17003347;17035674;17105729;17940119;17950103;18070763;18362392;18437145;18591397;18693052;18694939;18817903;18829900;18974842;19543209;19553673;19717560;19753306;20101248;20231281;20308432;20356931;20385772;20530740;20583302;20735359;21139048;21263402;21413788;21448847;21478406;21616074;21803291;21911493;22055193;22094256;22157924;22467849;22480698;22481384;22853689;23426360;23426382;23928362;24558042;8724849;8944226 23175 C9IYP2;C9J278;H7C3T1;Q14693 ABBA01015653;ABBA01015654;ABBA01015655;ABBA01015656;AC012456;AC106875;AF147446;AI379040;AK127039;AK290235;AK293787;AK294742;AK294853;AK302922;AK310450;AL357194;AMYH02003292;AMYH02003293;BC018071;BC030537;BI459149;BP192775;CH471053;CR749806;D80010;DB086946;DB153243;DC334711;HI573914;NG_012843;NM_001261427;NM_001261428;NM_001261429;NM_145693;XM_006711869;XM_006711870;XM_006711871;XM_006711872;XM_006711873;XM_006711874;XM_006711875 AAH30537;AAY14695;ABM85602;BAA11505;BAF82924;BAG57200;BAG57885;BAG57957;BAH13844;CAH18666;CBX47446;EAX00918;EAX00919;EAX00920;NP_001248356;NP_001248357;NP_001248358;NP_663731;Q14693;XP_006711932;XP_006711933;XP_006711934;XP_006711935;XP_006711936;XP_006711937;XP_006711938 Hs.467740;Hs.739141 1341431;1341704;1643737;1710670;1734794;1734940;1755779;1774120;1857205;2132286;2150160 D2S1566E;D2S1701E;D2S262;D2S2785;D2S328;RH25402;RH68248;RH70046;RH78739;SHGC-142622;SHGC-79603 DKFZp781P1796;KIAA0188;PAP1 OTTHUMP00000147624;OTTHUMP00000179151;OTTHUMP00000179153;lipin-1;phosphatidate phosphatase LPIN1 1643262;1643271 BW207_H;BW214_H APPROVED protein-coding ENSG00000134324 HGNC:13345 09271 268200;605518 REVIEWED 1602461 LPPR3 lipid phosphate phosphatase-related protein type 3 The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM, Mar 2008] 19 19 19 p13.3 317 3691 + 812488 821952 - 812488 821952 - 8554872 11230166;12477932;12730698;14702039;16169070;21890473 79948 Q6T4P5 ABBA01002597;ABBA01002598;ABBA01002599;AC004799;AC006273;AC112703;AF357888;AF541282;AK021597;AL136596;AMYH02035123;AMYH02035124;AMYH02035125;AY304517;AY436785;BC012339;BC017295;CH471242;NM_001270366;NM_024888 AAH12339;AAO85401;AAP57771;AAP72154;AAR10818;BAB13851;CAB66531;EAW61149;EAW61150;EAW61151;NP_001257295;NP_079164;Q6T4P5 Hs.546439;Hs.745399 LPR3;PRG-2;PRG2 OTTHUMP00000226891;OTTHUMP00000226892;PAP-2-like protein 2;plasticity-related gene 2 protein APPROVED protein-coding ENSG00000129951 07755 610391 VALIDATED 1603210 LPPR1 lipid phosphate phosphatase-related protein type 1 This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 74304663 74601009 + 103791031 104087417 + 101028749 101325135 + 6480464;8554872 12477932;12730698;14750979;17207965;8125298 54886 Q8TBJ4 ABBA01042875;ABBA01042876;ABBA01042877;ABBA01042878;ABBA01042879;ABBA01042880;ABBA01042881;AK000307;AK225306;AK303718;AK303807;AK309115;AL161631;AL357935;AL359893;AMYH02021347;AMYH02021348;AMYH02021349;AMYH02021350;AMYH02021351;AMYH02021352;AY304515;AY337718;BC022465;BC029380;BI601921;BI914341;CA772610;CH471105;NM_017753;NM_207299 AAH22465;AAP72152;AAQ73539;ADQ31714;BAA91072;BAH14030;BAH14055;EAW58938;EAW58939;EAW58940;EAW58941;NP_060223;NP_997182;Q8TBJ4 Hs.382683 1643650;1644339;1669710;1704502;1723121;1725209;1751225;1756651;2109695;2111101;2162761;2164112;2166079;2176407;2176409;2185649 1638;A005N10;A008T08;D9S2013;D9S221E;G20345;NIB1507;PRG-_3_9840;RH118897;RH123745;SHGC-105095;SHGC-143704;SHGC-24321;SHGC-83014;STS-M78268;WI-13839 MGC26189;PRG-3;RP11-35N6.1 OTTHUMP00000021800;OTTHUMP00000021801;plasticity related gene 3;plasticity-related gene 3 protein APPROVED protein-coding ENSG00000148123 17906 REVIEWED 1604517 LPPR5 lipid phosphate phosphatase-related protein type 5 The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p21.3 97609711 97724382 - 99355801 99470449 - 98890245 99004893 - 6480464;8554872 12477932;16010976;20032306;20379614;23064961;23251661;23259602;8619474;9110174 163404 Q32ZL2 ABBA01045460;AF131783;AK295688;AL161744;AL445433;AL590110;AMYH02001542;AMYH02001543;AMYH02001544;AY574039;AY634620;BC040174;BC136350;BC144000;BF514931;CH471097;DR001828;FJ472844;NM_001010861;NM_001037317;R37934 AAH40174;AAI36351;AAI40087;AAI43087;AAI44001;AAS76645;AAT64918;ACJ60628;BAG58540;EAW72994;NP_001010861;NP_001032394;Q32ZL2 Hs.483948 1652428;1675541;1681779;1857558;2117715;5122241 AL009347;RH36855;RH64658;RH79763;SHGC-75188;STS-T87228 PAP2;PAP2D;PRG-5;PRG5 OTTHUMP00000012445;OTTHUMP00000235208;phosphatidic acid phosphatase 2d;phosphatidic acid phosphatase type 2;plasticity-related gene 5 protein;plasticity-related protein 5 APPROVED protein-coding ENSG00000117598 12966 REVIEWED 68515 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] 4 4 4 q32.1 152996143 153005248 + 155665163 155674270 + 154626961 154753118 + 1599754;1580863;6480464;6893650;6484694;6484672;6484679;6907045;7240710;8547535;8547536;8699517;8554872 11381255;19700416;20212494;21447403;21621639;21718801;23701314 10819989;11133845;11162450;12009892;12477932;1322170;14581364;14596594;14702039;14704332;15161698;15186777;15474300;15489334;15583024;16115871;16939223;17011878;17438524;18055821;18544127;18652909;18823527;19471114;19665987;20301475;20301590;20356843;20574532;20591486;20801516;21465477;22559933;22570351;22605381;23890161;24036882;24613493;9767084;9920938 9227 D6RC94;O95237 ABBA01070159;ABBA01070160;AC009567;AC092616;AC107385;AF071510;AK056234;AK292598;AMYH02010337;AMYH02010338;AY546085;AY546086;BC031053;CH471056;DB364008;DQ266889;NG_009110;NM_001301645;NM_004744;XM_006714412 AAD13529;AAH31053;AAS49412;AAS49413;ACT64530;ACT64531;ADZ15832;BAF85287;EAX04904;NP_001288574;NP_004735;O95237;XP_006714475 Hs.658427;Hs.736130 1661123;1696162;2108213;2138602;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;LRAT_8915;SHGC-67616;SHGC-67662;SHGC-79148 LCA14;MGC33103 OTTHUMP00000220354;OTTHUMP00000220355;lecithin retinol acyltransferase APPROVED protein-coding ENSG00000121207 HGNC:6685 05332 604863;613341 REVIEWED 1313845 LRCH1 leucine-rich repeats and calponin homology (CH) domain containing 1 This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010] 13 13 13 q14.11 28183132 28383118 + 47127296 47327176 + 46553161 46753041 + 6480464;8554872 10231032;12168954;12477932;14702039;16344560;16447229;16891653;17549794;17762607;18049793;18729074;20237151;20805893;21906983;22325041;23022380;24255178;24457600;24654937;8889548 23143 C9J5B8;C9JWE0;Q9Y2L9 AB023233;ABBA01050995;AK123654;AK292898;AK309937;AL136958;AL138704;AL359880;AL530544;AMYH02027988;AMYH02027989;AMYH02027990;AMYH02027991;AY050631;AY050632;BC026097;BC112937;BC117472;BC143883;BE018226;BM679696;BM991796;BM994390;CB529998;CB999464;CH471075;CR739467;DA231068;NG_021335;NM_001164211;NM_001164213;NM_015116 AAH26097;AAI12938;AAI17473;AAI43884;AAK95567;AAK95568;ADR83344;BAA76860;BAF85587;EAX08766;NP_001157683;NP_001157685;NP_055931;Q9Y2L9 Hs.507971 1337545;1655938;1661256;1661810;1675207;1684162;1696656;1698708;1707726;1729938;1760245;1779710;1782838;2111616;2129214;2158192 D10S194;D13S126;D13S1555;D13S328;RH102914;RH44520;RH44695;RH46302;RH80890;SHGC-132545;SHGC-141900;SHGC-153685;SHGC-33657;SHGC-82078;SHGC-82965;STS-T60161 CHDC1;FLJ41660;KIAA1016;NP81 OTTHUMP00000018372;OTTHUMP00000018373;OTTHUMP00000214856;leucine-rich repeat and calponin homology domain-containing protein 1;neuronal protein 81 APPROVED protein-coding ENSG00000136141 HGNC:20309 14307 610368 REVIEWED 70836 LPL lipoprotein lipase LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008] 8 8 8 p22 18759678 18787858 + 19796582 19824770 + 19939071 19967259 + 1580533;1580536;1580537;1580539;1302535;1300048;1580863;1302536;1556571;1578729;1580535;1556752;1357916;2313304;2313580;2313305;2313581;2313298;2313300;2313302;2313303;6480464;2306755;6909179;2308781;6907045;7240710;8554872;8699517 11016888;11071388;12483461;12708905;14531811;15127290;16132104;16431216;16813599;17712951;17848837;18321693;18780778;18823627;18952837;18985010;1907278;22009636;7635990;8641022;9920508;9973300 10085125;10391209;10660334;10727238;11073182;11096142;11126401;11132601;11140837;11171287;11194013;11205691;11229437;11284423;11316129;11341749;11395037;11427211;11441189;11484171;11500192;11533368;11534394;11579204;11593500;11605530;11680797;11683775;11702052;11702219;11711487;11714857;11714860;11730816;11796707;11796709;11834518;11852057;11893776;11893778;11897170;11899831;11921083;11947965;11996946;12042669;12044583;12082592;12107736;12117735;12133533;12133567;12164879;12174215;12208477;12226739;12230584;12370850;12408999;12446192;12477932;12501246;12514935;12544508;12573449;12636935;12647273;12655575;12679477;12687649;12690214;12701046;12704407;12732844;12740382;12746411;12747600;12755701;12777470;12782148;12793009;1281473;12818414;12862202;12865761;12866915;12876415;12889841;12905705;12915220;12919138;12964943;12966036;1371284;1400331;1406652;14553962;14564687;14570890;14580156;14580165;14581156;14660566;14669227;14693718;14702039;14764824;1479292;14967813;14984315;14988233;14988305;15019539;15051515;15060087;15076187;15115692;1511985;15135251;15155715;15178420;15189363;15202783;1521525;15221136;15253101;15256516;15257172;15270617;15292370;15292372;15331147;15356086;1537564;15386377;15489334;15543643;15545743;15562208;15608561;15637076;15657615;15696473;15699916;15721013;15749185;15764642;1576758;15793775;15795426;15802535;15857159;15858619;15878772;15896905;15928243;15939061;15961789;15979432;1598907;15994321;16013913;16015281;16029634;16030523;16086925;16106048;16122151;16135440;16141008;16142021;16168296;16169070;16179346;1619366;16195478;16205020;16253639;16256241;16343038;16344560;16353345;16357806;16364275;16369102;16378107;1639392;16416313;16418216;16419488;16430904;16446009;16449872;16451134;16460718;16466345;16517593;16519597;16534528;16542392;16544732;16552397;16630553;16635607;16651467;16702309;16741292;1674945;16755277;16763159;16770077;16776623;16799404;16822320;16829344;16837242;16840197;16864937;16894468;16896939;16926441;16928730;16965549;16989840;17001213;17006673;17018885;1702428;17029199;17032721;17058522;17072956;17093291;17130180;17137217;17157861;17163816;17244606;17291198;17299085;17299379;1730727;17311894;1731801;17318300;17328917;17342071;17347923;17356047;17374417;1737848;17428620;17436307;17463246;17473385;17476032;17484619;17487735;17517063;1752947;17533471;17535427;17555736;17560523;17562973;17568951;17587400;17615573;17620184;17644777;17652898;17653444;17662793;17681919;17700364;17705673;17706445;17717288;17721767;17726453;17727701;17761930;17803213;17855807;17903299;17919884;17939375;17997385;18020971;18068174;18175800;18187430;18187620;18193043;18193044;18193046;18223635;18242618;182536;18275685;18275964;18325076;18336668;18354102;18449420;18454146;18494281;18513389;18534873;18535540;18590804;18596051;18603820;18616755;18619685;18635818;18636124;18649389;18660489;18676680;18681781;18693040;18724972;18821565;18922999;18927546;18986377;18996102;19004026;19018513;19028676;19034041;19034316;19052449;19060906;19060910;19060911;19099922;19131662;19148283;19155782;19167106;19170196;19185650;19191728;19207029;19246456;19254215;19259048;19295657;19299407;19335919;19336370;19336475;19340428;19357293;19367093;19367320;19368142;19403283;19420105;19428034;19471043;19479237;19489872;19501493;19534808;19542565;19556723;19558660;19563912;19578796;19584682;19596235;19602472;19625176;19629056;19642912;19656773;19664517;19689828;19692168;1969408;19709746;19729601;1975597;19766899;19772655;19773416;19780863;19783858;19818126;19834535;19875996;19878569;19884647;19888660;19899640;19910634;19913121;19936222;19948975;19956635;20031538;20031551;20031591;20075597;20092038;20099167;2010533;20108206;20139978;20150529;20160193;20167577;20228263;20235787;20301485;20347446;20350420;2038366;20385819;20400780;20403997;20410100;20416077;20421589;20429872;20430250;20430392;20452482;20506644;20536507;20538960;20565774;20571754;20581395;20588308;20595410;20596061;20602615;20616609;20628086;20634891;20650961;20657596;20673868;20679960;20686565;20691829;20693566;20694148;20712903;20714348;20836743;20855565;20864672;20926921;20929345;20943490;21044743;21060192;2110364;21127884;21139048;21145461;21146168;21159338;21162862;21193198;2121025;21252145;21252727;21385844;21386085;21398697;21419757;21448664;21478160;21499891;21508119;21518912;21621348;21722517;21816453;21832049;21840003;21854610;21862952;21909109;21943158;21966368;21978733;21980507;21988832;22018640;22078753;22095987;22101375;22123668;22171074;22239554;22244040;22286219;22368174;22399527;2243796;22541364;22729917;22772754;22773878;22810051;22820186;22828442;22916037;2294743;23008484;23056264;23089926;23320821;23344322;23377670;2340307;23478142;2349938;23505323;23614796;23623643;23661675;23726366;23735640;23761384;23880163;23902956;23991054;24004859;24009459;24023261;24081181;24097068;24121499;24212298;24223199;24262325;24308220;24314358;24340925;24386095;24458708;24704550;24974629;2536938;2701938;3355847;3515966;3692485;3823907;3973011;7510694;7592875;7647785;7686151;7713910;7753827;7806969;7818530;7906986;7989348;8096693;8125298;8135797;8144523;8288243;8301230;8308035;8325986;8449037;8486765;8567671;8956048;9183545;9298816;9374130;9401010;9430364;9519338;9662394;9719626 4023 E5RHN7;E5RJI0;E5RJZ4;E7EW14;P06858 ABBA01021552;AC100802;AC107964;AF050163;AK092286;AK222464;AK290290;AK297164;AK312311;AMYH02017567;AY092405;BC011353;BT006726;CH471080;CR457054;DA485210;DQ083390;M15856;M76722;NG_008855;NM_000237;S76076;S76077;S78266;X14390;X54516;X68111 AAA59528;AAB20999;AAB21000;AAB59536;AAC61679;AAH11353;AAM23256;AAP35372;AAY85371;ABM84467;ABM84677;BAD96184;BAF82979;BAG35236;BAG52519;BAH12512;CAA32564;CAA38372;CAA48230;CAG33335;EAW63764;NP_000228;P06858 Hs.180878 1643689;1656410;1664251;1709098;1741027;1741719;1742021;1742095;1742873;1743179;1745533;2176766;2190769;2217564 D8S1948;GDB:177387;GDB:182360;GDB:189516;GDB:191079;GDB:212664;GDB:285016;GDB:623664;LPL;LPL_4009;RH36522;RH70259;SHGC-85707;STS-M15856 HDLCQ11;LIPD OTTHUMP00000034806 2289455;2314771;2314781;2314791 BW300_H;BW512_H;GLUCO108_H;GLUCO109_H APPROVED protein-coding ENSG00000175445 HGNC:6677 01999 144250;238600;609708 REVIEWED 1312734 LPXN leupaxin The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by, tyrosine kinase activity. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] 11 11 11 q12.1 55653452 55704742 - 58294344 58345688 - 58526871 58578239 - 1580863;6480464 10604475;12477932;12674328;15144186;15342556;15489334;15592455;15786712;16094384;16189514;17329398;17640867;18451096;18497331;19760607;19913121;19917054;19946888;20098747;20543562;20628086;21890473;21900206;21906983;21988832;22505724;23088713;23128233;23349640;24654937;24722188;8125298;8889548;9565592 9404 B7Z5P7;E9PNX9;O60711 ABBA01021488;ABBA01021489;ABBA01021490;AF062075;AK223165;AK299264;AK300955;AK301093;AK313306;AMYH02024860;AP001350;AP003557;BC007490;BC019035;BC034230;BP261314;BU688891;CH471076;CR536531;NM_001143995;NM_004811;XM_006718750 AAC16014;AAH19035;ABM83631;ABM86880;BAD96885;BAG36111;BAG62583;BAG62693;BAH12983;CAG38768;EAW73807;EAW73808;EAW73809;NP_001137467;NP_004802;O60711;XP_006718813 Hs.125474 1679313;1719353;1736991;2108211;2167866;2184620 D11S2720;LPXN_8932;RH123404;RH36139;RH93068;STS-W46419 LDPL OTTHUMP00000235992;OTTHUMP00000235993 APPROVED protein-coding ENSG00000110031 HGNC:14061 05651 605390 REVIEWED 1354195 LRCH2 leucine-rich repeats and calponin homology (CH) domain containing 2 This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011] X X X q23 114780355 114903805 - 114345179 114468635 - 115110616 115234072 - 6480464;8554872 10819331;12477932;14702039;15772651;17643375;18029348;20616063;20805893;21145461;21606681;23443559;24255178 57631 Q5VUJ6 AB040928;ABBA01053642;ABBA01053643;ABBA01053644;ABBA01053645;ABBA01053646;ABBA01053647;ABBA01053648;ABBA01053649;ABBA01053650;ABBA01053651;ABBA01053652;ABBA01053653;ABBA01053654;ABBA01053655;AC239923;AK022128;AL121878;AL445164;AL589786;AMYH02040272;AMYH02040273;AMYH02040274;BC042004;BC125223;BC125224;BG541540;BX647193;CH471120;NG_021299;NM_001243963;NM_020871;XM_006724724 AAI25224;AAI25225;BAA96019;BAB13966;EAX02617;EAX02618;NP_001230892;NP_065922;Q5VUJ6;XP_006724787 Hs.65366 1663134;2115631;2148573 DXS7310;L77633;NIB1759 KIAA1495;MGC150671;dA204F4.4 OTTHUMP00000023873;leucine-rich repeat and calponin homology domain-containing protein 2 APPROVED protein-coding ENSG00000130224 HGNC:29292 06602 REVIEWED 1322886 LRBA LPS-responsive vesicle trafficking, beach and anchor containing The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 4 4 4 q31.3 148505159 149256493 - 151185811 151936879 - 150264659 151015727 - 1580863;6480464;8699517;7240710;8554872 11254716;12160729;12477932;14702039;1505956;15554694;17081983;17353931;17474147;19738201;19946888;20379614;21139048;21890473;21906983;22053931;22608502;22721650;22863883;23000965;23022380;23092984;23824909;24250222;24816145;25015289 987 E9PEM5;H0Y9N9;H0YA17;H0YAC6;P50851 AA810175;AB208838;ABBA01070087;ABBA01070088;ABBA01070089;ABBA01070090;ABBA01070091;ABBA01070092;ABBA01070093;ABBA01070094;ABBA01070095;ABBA01070096;AC079794;AC092544;AC092612;AC093748;AC097373;AC104796;AC110813;AF216648;AF217149;AF467287;AK026483;AK098039;AK098552;AK122920;AMYH02010292;AMYH02010293;AMYH02010294;AMYH02010295;AMYH02010296;AMYH02010297;AMYH02010298;AMYH02010299;AMYH02010300;AMYH02010301;AMYH02010302;BC012535;BC064834;BT007180;BX537552;CH471056;CR749633;M83822;NG_032855;NM_001199282;NM_006726;XM_005263372;XM_005263373;XM_005263374;XM_005263375;XM_005263376;XM_005263377;XM_006714429 AAB09603;AAG48558;AAG48559;AAH12535;AAH64834;AAM53530;AAP35844;AAY40973;AAY40984;BAD92075;BAG53798;CAH18427;EAX04996;NP_001186211;NP_006717;P50851;XP_005263429;XP_005263430;XP_005263431;XP_005263432;XP_005263433;XP_005263434;XP_006714492 Hs.480938 1338007;1338030;1652487;1658969;1668606;1674648;1678163;1681604;1706488;1708942;1713209;1718953;1749251;1756127;1760903;1773648;1849299;1851422;2146266;2149163;2151959;2158065;2164414;2173752 AFM308zg5;Cda1jc12;D4S1549;D4S1606;D4S3296;D4S3308;D4S861;G17087;G33590;RH120392;RH123184;RH18383;RH35889;RH36164;SHGC-110939;SHGC-142923;SHGC-144646;SHGC-24704;SHGC-52898;SHGC-79526;SHGC-81135;SHGC4-530;STS-H68709;WI-10361 BGL;CDC4L;CVID8;DKFZp686A09128;DKFZp686K03100;DKFZp686P2258;FLJ16600;FLJ25686;LAB300;LBA;MGC72098 CDC4-like protein;OTTHUMP00000220231;OTTHUMP00000220232;OTTHUMP00000220234;beige-like protein;cell division cycle 4-like;lipopolysaccharide-responsive and beige-like anchor protein;vesicle trafficking, beach and anchor containing APPROVED protein-coding ENSG00000198589 HGNC:1742 07344 606453;614700 REVIEWED 1345231 LRE1 LINE retrotransposable element 1 ENCODES a protein that exhibits identical protein binding; single-stranded DNA binding; single-stranded RNA binding; INVOLVED IN transposition, RNA-mediated; FOUND IN cytoplasm; cytoplasmic stress granule; nucleolus; INTERACTS WITH 5-aza-2'-deoxycytidine; 5-azacytidine; benzo[a]pyrene 6480464 4029 Q15606;Q9UN81 HGNC:6686 151626 6770658 LRCOL1 leucine rich colipase-like 1 ENCODES a protein that exhibits enzyme activator activity (inferred); INVOLVED IN digestion (inferred); lipid catabolic process (inferred); positive regulation of catalytic activity (inferred); FOUND IN extracellular region (inferred) 12 12 12 q24.33 132879558 132886785 - 133179672 133187229 - 132603086 132610451 - 11752456;16344560;16541075 100507055 A6NCL2 ABBA01012380;AC131212;AMYH02027590;AV653338;BX282338;CH471218;DB344052;JQ012741;JQ012742;NM_001195520;XM_006719729;XM_006719730;XM_006719731;XM_006719732;XM_006719733 A6NCL2;AFD01644;EAW54842;NP_001182449;XP_006719792;XP_006719793;XP_006719794;XP_006719795;XP_006719796 Hs.282811 2119607 G16012 RP13-554M15.6 leucine-rich colipase-like protein 1;uncharacterized protein LOC645277 protein-coding ENSG00000204583 HGNC:44160 VALIDATED 1350031 LRE3 LINE retrotransposable element 3 8393568 4031 HGNC:6688 1353895 LRE2 LINE retrotransposable element 2 7920631 4030 Q12881 U09116 HGNC:6687 151628 1346612 LRE4 LINE retrotransposable element 4 4032 HGNC:6689 1350359 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; hydrogen peroxide; 17alpha-ethynylestradiol (ortholog) 11 11 11 q13.2 63953000 63956070 + 66624558 66627946 + 66857087 66860475 + 737633;6480464 12477932 15146197;15489334;16495444;16828986;21704618;21926972;22268729;22677168 78999 E7ENX6;Q6PJG9 AB209005;ABBA01024059;AMYH02024982;AP003176;BC000207;BC007718;BC014040;BC015581;BC027475;BC071866;BC094813;CH471076;CN297399;NG_008319;NM_024036;XM_005274239 AAH00207;AAH07718;AAH14040;AAH15581;AAH27475;AAH71866;AAH94813;BAD92242;EAW74573;EAW74574;NP_076941;Q6PJG9;XP_005274296 Hs.209979;Hs.714189 1675818 RH98812 FIGLER6;MGC3103;SALM3;SALM3. OTTHUMP00000235159;fibronectin type III, immunoglobulin and leucine rich repeat domains 6;leucine-rich repeat and fibronectin type-III domain-containing protein 4 protein-coding ENSG00000173621 HGNC:28456 14310 612810 VALIDATED 1605099 LPPR4 lipid phosphate phosphatase-related protein type 4 The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 1 p21.2 97983902 98029193 + 99729848 99775140 + 99264292 99309584 + 6480464;8554872 12069809;12477932;12730698;16169070;19766573;20379614;20381006;23213074;9455484 9890 Q7Z2D5 AB007924;ABBA01045458;AF357013;AF541281;AK291369;AK300361;AL136147;AL139425;AL834390;AMYH02001545;AY304518;BC041386;BC042963;CH471097;NM_001166252;NM_014839 AAH41386;AAH42963;AAI48349;AAO85400;AAP57770;AAP72155;BAA32300;BAF84058;BAG62101;CAD39052;EAW72991;EAW72992;NP_001159724;NP_055654;Q7Z2D5 Hs.13245 1771923;1852556;2135870;2142629;2143720;2148585;2162157;5024547;5094076 A006O32;A009B28;D1S2428;D1S3698;G34958;SHGC-75184;SHGC-75185;SHGC-75201;SHGC-75202 KIAA0455;LPR4;PHP1;PRG-1;PRG1;RP4-788L13.1 OTTHUMP00000012462;brain-specific phosphatidic acid phosphatase-like protein 1;plasticity related gene 1;plasticity-related gene 1 protein APPROVED protein-coding ENSG00000117600 07425 607813 REVIEWED 1314681 LRCH3 leucine-rich repeats and calponin homology (CH) domain containing 3 FOUND IN cytoplasm; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; afimoxifene 3 3 3 q29 196134228 196214562 + 197518112 197615307 + 197791241 197884311 + 737633;6480464 12477932 14702039;15324660;15489334;20805893;21890473;22505724;23398456;23443559;24250222;24255178 84859 B4E0T7;E9PD99;F8WFB5;H7C0F9;H7C0J8;H7C1G3;Q96II8 ABBA01007561;ABBA01007562;ABBA01007563;AC055764;AC135893;AC144530;AK024647;AK055819;AK125235;AK128758;AK293745;AK300466;AK303521;AL137527;AMYH02008524;AMYH02008525;BC007504;BC008625;BC010565;CH471252;NM_032773;XM_005269362;XM_005269363;XM_005269365;XM_005269367;XM_006713791;XM_006713792;XM_006713793 AAH07504;AAH10565;ABM84194;ABM87597;BAG51577;BAG57168;BAG62185;BAG64549;CAB70791;EAW92242;EAW92243;EAW92244;EAW92245;NP_116162;Q96II8;XP_005269419;XP_005269420;XP_005269422;XP_005269424;XP_006713854;XP_006713855;XP_006713856 Hs.518414;Hs.744956 1662458;1671519;1675323;1699296;1777950;1856967;2122609;2147582;5037552 D3S2839E;D8S2279;G16562;G29222;RH103233;RH12742;RH80465;STS-D80227;WI-20825 FLJ20994;FLJ43245;FLJ44976;MGC4126 2210409B11Rik;OTTHUMP00000207958;OTTHUMP00000207959;OTTHUMP00000207960;OTTHUMP00000207961;OTTHUMP00000207962;leucine-rich repeat and calponin homology domain-containing protein 3 protein-coding ENSG00000186001 HGNC:28637 14308 PROVISIONAL 1349039 LRG1 leucine-rich alpha-2-glycoprotein 1 The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O'Donnell et al., 2002 [PubMed 12223515]).[supplied by OMIM, Mar 2008] 19 19 19 p13.3 4476013 4478822 - 4537227 4540036 - 4537215 4540024 - 1580863;6480464;8554872 11801638;12223515;12477932;14718574;14760718;15221005;15489334;16335952;16502470;16699948;16740002;17194537;17207965;17583700;18029348;19324010;19851871;20442399;21282491;21557262;22116432;22277732;22374925;23284758;24058569;24760273;3856868 116844 P02750;Q68CK4 AB073607;ABBA01056062;AC011498;AF403428;AK027382;AK303861;AK314506;AMYH02035292;BC034389;BC070198;CH471139;NM_052972 AAH34389;AAH70198;AAK95527;ADQ31727;BAD38644;BAG37106;BAG51312;BAG64800;EAW69211;NP_443204;P02750 Hs.655559 1680495;1682449;2129426;5014051;5022578;5022588 D1S1423;D5S1597E;D8S2278;RH48973;RH80514;RH91548 FLJ45787;HMFT1766;LRG 1300008B03Rik;2310031E04Rik;leucine rich alpha 2 glycoprotein;leucine-rich alpha-2-glycoprotein APPROVED protein-coding HGNC:29480 10056 611289 VALIDATED 1319662 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); cyclosporin A; cytarabine 14 14 14 q21.1 21937439 22234297 + 42076764 42373752 + 41607561 41904549 + 1580863;6480464;8554872 12477932;14702039;16344560;16828986;18029348;20379614;20410109;21736948;22443383;23459443 145581 G3V364;G3V4N1;Q96NI6 ABBA01018006;ABBA01018007;ABBA01018008;ABBA01018009;ABBA01018010;AK055365;AK096627;AK299632;AL109662;AL121821;AL138498;AL832129;AMYH02029068;AMYH02029069;AW013887;BC043165;CH471078;DA096504;KF455872;NM_152447;XM_005267369;XR_429293 AAH43165;ADZ15608;BAB70910;BAG53340;BAG61560;EAW65799;NP_689660;Q96NI6;XP_005267426 Hs.136893 1703918;1708634;1728413;1774427;1852975;2191323 G63641;MARC_17372-17373:1021901358:1;RH48353;SHGC-31628;SHGC-83626;SHGC-85115 C14orf146;DKFZp686G0210;FIGLER8;FLJ30803;SALM5 OTTHUMP00000178908;fibronectin type III, immunoglobulin and leucine rich repeat domains 8;leucine-rich repeat and fibronectin type-III domain-containing protein 5 protein-coding ENSG00000165379 HGNC:20360 17445 612811 VALIDATED 1603986 LRIF1 ligand dependent nuclear receptor interacting factor 1 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN actin cytoskeleton; nucleus; INTERACTS WITH benzo[a]pyrene; cadmium sulfate; copper(2+) sulfate 1 1 1 p13.3 109736827 109753586 - 111489812 111506825 - 110877276 110964197 - 6480464;8554872 12477932;14702039;15383276;15489334;16169070;16189514;16710414;17207965;17455211;18029348;18187620;20562864;21252943;21900206;21906983;21963094;21987572;22505724;23251661;23542155;24250222 55791 Q5T3J3 ABBA01068395;AK001826;AK002131;AL354713;AL360270;AL391064;AL834466;AMYH02001726;AY190122;BC008115;BQ787643;BU192014;BU664417;CD686306;CH471122;NM_001006945;NM_018372;XM_005271029;XM_006710763 AAH08115;AAO43631;ADQ32762;BAA91928;BAA92097;CAD39125;EAW56460;EAW56461;NP_001006946;NP_060842;Q5T3J3;XP_005271086;XP_006710826 Hs.25245 1676027;1776834;2190571 AFMb017zg1;EST4F4;RH98723 C1orf103;FLJ11269;RIF1;RP11-96K19.1 OTTHUMP00000013687;OTTHUMP00000233497;ligand-dependent nuclear receptor-interacting factor 1;receptor interacting factor 1;receptor-interacting factor 1 APPROVED protein-coding ENSG00000121931 HGNC:30299 17975 615354 VALIDATED 1323493 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); integral component of membrane (inferred); postsynaptic membrane (inferred); INTERACTS WITH all-trans-retinoic acid; calcitriol; testosterone 6 6 6 p21.2-p21.1 41912256 42107705 - 40359373 40555126 - 40391634 40587387 - 1580863;6480464;8554872 10574462;12477932;14574404;16495444;16828986;20379614;22174418;23103227;23251661;24256812;25011449 57497 Q9ULH4 AB033072;ABBA01050765;ABBA01050766;AK291474;AL033380;AL359475;AL591063;AMYH02013599;AMYH02013600;BC109041;BC109042;BC142616;CH471081;NM_020737 AAI42617;BAA86560;BAF84163;EAX04006;NP_065788;Q9ULH4 Hs.250015 1338964;1710158;1714613;1718365;2126383;5124658;7185440 D6S1607;RH119972;RH122955;RH78230;RH98364;SHGC-82338 FIGLER2;KIAA1246;RP11-535K1.2;SALM1 OTTHUMP00000016361;fibronectin type III, immunoglobulin and leucine rich repeat domains 2;leucine-rich repeat and fibronectin type-III domain-containing protein 2;synaptic adhesion-like molecule 1 protein-coding ENSG00000156564 HGNC:21226 17444 612808 PROVISIONAL 1315602 LRIG1 leucine-rich repeats and immunoglobulin-like domains 1 INVOLVED IN innervation (inferred); otolith morphogenesis (inferred); sensory perception of sound (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 3 3 3 p14 66375063 66496661 - 66429221 66551446 - 66378797 66500421 - 6480464;8554872 11414704;12067728;12234026;12477932;12684867;14520461;15282549;15345710;15489334;16168117;16877544;17178829;17624990;17851870;18037903;18542056;18922900;19300910;19490591;20379614;21076409;21087604;21128282;21431282;21632100;21821674;21909108;22241084;22464327;22484910;22528225;22554477;22797727;23124613;23165628;23208509;23208928;23383273;23581227;23624915;23648065;23723069;23850692;24314030;24324551;24548859;24828152;24879564;8798419 26018 Q96JA1 AB050468;ABBA01030865;AC092034;AC099665;AC126122;AF381545;AK126745;AK294984;AK314103;AL117666;AMYH02006983;AMYH02006984;AY730707;BC014276;BC071561;BC140907;CH471055;NM_015541 AAH14276;AAH71561;AAI40908;AAK62357;AAU44786;BAB40659;BAG54369;BAH11940;CAB56036;EAW65452;EAW65453;NP_056356;Q96JA1 Hs.518055 1649736;1709754;1763091;1765999;1857226;2122113;2184897;5113469 RH91921;SHGC-146827;SHGC-149392;SHGC-33872;SHGC-77066;SHGC-77070;SHGC-84688;WI-22136 DKFZp586O1624;LIG-1;LIG1 OTTHUMP00000213345;OTTHUMP00000213346;leucine-rich repeat protein LRIG1;leucine-rich repeats and immunoglobulin-like domains protein 1;ortholog of mouse integral membrane glycoprotein LIG-1 protein-coding ENSG00000144749 HGNC:17360 10057 608868 VALIDATED 1312309 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 FOUND IN cell junction (inferred); integral component of membrane (inferred); postsynaptic membrane (inferred); INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; bisphenol A; hydralazine 19 19 19 q13.2 36599137 36607655 - 39797457 39806740 - 39306817 39316116 - 6480464 10819331;12477932;16169070;16828986;21900206;21906983 57622 Q96C50;Q9P244 AB040917;ABBA01040726;AC011445;AMYH02036088;BC014678;BC025310;BC040681;CH471126;NM_020862;XM_005259102 AAH14678;AAH25310;BAA96008;EAW56872;NP_065913;Q9P244;XP_005259159 Hs.97860 1662666;2219910;5023733 AU048745;G31081;LRFN1__6420 KIAA1484;SALM2 leucine-rich repeat and fibronectin type III domain-containing protein 1;synaptic adhesion-like molecule 2 protein-coding ENSG00000128011 HGNC:29290 612807 VALIDATED 1603904 LRGUK leucine-rich repeats and guanylate kinase domain containing ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); INVOLVED IN phosphorylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH benzo[a]pyrene; chloroprene (ortholog); potassium dichromate (ortholog) 7 7 7 q33 128549620 128686380 + 133812105 133948933 + 134127352 134264181 + 6480464;8554872 12477932;12690205;14702039;18498660;20379614 136332 Q96M69 ABBA01001105;ABBA01001106;ABBA01001107;AC008154;AC018646;AK057348;AMYH02016805;AMYH02016806;AMYH02016807;BC038800;BC104897;BC104899;CH236950;CH471070;KF510982;NM_144648 AAI04898;AAI04900;BAB71441;EAL24072;EAW83807;NP_653249;Q96M69 Hs.149774 1335577;1341748;1655165;1713389;1723603;1726481;1727639;1850518;7187415;7187842 D7S2438;D7S631;D7S725;D8S2110;G62620;G63230;RH119550;RH121440 FLJ32786 OTTHUMP00000207723;leucine-rich repeat and guanylate kinase domain-containing protein protein-coding ENSG00000155530 HGNC:21964 08734 PROVISIONAL 1319957 LRIG2 leucine-rich repeats and immunoglobulin-like domains 2 INVOLVED IN innervation (inferred); regulation of platelet-derived growth factor receptor signaling pathway (inferred); sensory perception of sound (inferred); ASSOCIATED WITH Autosomal recessive inheritance (inferred); Constipation (inferred); Enuresis (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH cyclosporin A; formaldehyde; levonorgestrel 1 1 1 p13.1 111845570 111897091 + 113615792 113667824 + 113073170 113125202 + 1580863;6480464;8699517;8554872;7240710 12477932;14702039;15145052;15203213;15592455;18037903;18992012;20446891;21632100;21823015;22268729;22484910;23313374;23967498;9872452 9860 O94898 AB018349;ABBA01068447;ABBA01068448;ABBA01068449;AK074825;AK123606;AK291031;AL161998;AL357055;AMYH02001759;AMYH02001760;AMYH02001761;BC017961;BC117368;BC117370;CH471122;CR936669;NM_014813;XM_005271369;XM_006711072;XM_006711073 AAI17369;AAI17371;BAA34526;BAF83720;BAG52009;BAG53920;CAB82328;EAW56556;EAW56557;NP_055628;O94898;XP_005271426;XP_006711135;XP_006711136 Hs.448972;Hs.729143 1653299;1752895;2219914;5024087 A008L45;LRIG2__6423;SHGC-106802;SHGC-75336 DKFZp451C181;KIAA0806;LIG-2;LIG2;UFS2 OTTHUMP00000013964;leucine-rich repeats and immunoglobulin-like domains protein 2 protein-coding HGNC:20889 12321 608869;615112 PROVISIONAL 1605227 LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013] 4 4 4 q25 108066231 108087218 + 110769340 110793471 + 109848184 109872315 + 6480464;8699517;7240710;8554872 12477932;20332099;22673519;23246293;8889548 345193 Q3SXY7 ABBA01063785;AC005509;AC126283;AK126648;AMYH02009902;BC104037;BM665581;CH471057;DN994055;DT932743;JQ354981;NG_033249;NM_198506;XM_005262979 AAI04038;AFH56665;BAC86628;EAX06256;NP_940908;Q3SXY7;XP_005263036 Hs.308127 CSNB1F;FIGLER4;FLJ44691;MGC120618 OTTHUMP00000205710;fibronectin type III, immunoglobulin and leucine rich repeat domains 4;leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 protein-coding ENSG00000183423 HGNC:24783 13495 615004;615058 REVIEWED 1314592 LRCH4 leucine-rich repeats and calponin homology (CH) domain containing 4 This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008] 7 7 7 q22 94901433 94913573 - 100171634 100183806 - 100574011 100586183 - 1580863;6480464 12477932;12690205;14702039;15489334;16169070;16189514;16449650;17081983;18851979;19060904;20508642;20805893;24255178;9799793 4034 C9JYK0;H7C5D9;O75427 ABBA01013198;AC069281;AF459638;AI491709;AK074833;AK097420;AK128189;AK302410;AMYH02016384;BC007634;BC018529;BG722226;CH236956;CH471091;DC397219;DR422652;NM_001289934;NM_002319;XM_005250346;XM_005250347 AAH07634;AAH18529;AAQ04768;ABM84491;ABM85166;BAG52011;BAG63720;EAL23828;EAW76519;EAW76520;NP_001276863;NP_002310;O75427;XP_005250403;XP_005250404 Hs.125742 5022651 D11S2921 FLJ40101;FLJ46315;LRN;LRRN1;LRRN4;PP14183;SAP25 OTTHUMP00000215775;leucine rich repeat neuronal 4;leucine-rich neuronal protein;leucine-rich repeat and calponin homology domain-containing protein 4;leucine-rich repeat neuronal protein 4 APPROVED protein-coding ENSG00000077454 HGNC:6691 10062 REVIEWED 1347856 LRIG3 leucine-rich repeats and immunoglobulin-like domains 3 INVOLVED IN otolith morphogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; calcitriol 12 12 12 q14.1 58927578 58975904 - 59265937 59314319 - 58872155 58920538 - 6480464;8554872 12477932;12975309;14702039;15203213;16344560;16532360;17393120;18037903;19200647;19216216;19224171;19448407;20379614;20445134;20446891;21145461;21505989;23165628;23392718;23723069 121227 C9K080;F8VYZ5;H0YID8;Q6UXM1 ABBA01026681;ABBA01026682;AC078963;AK074921;AK130083;AK292857;AK301162;AL833710;AMYH02026610;AY358288;AY358295;AY505340;BC012380;BC126169;BC126171;BC143960;CH471054;DA456424;KF511180;NM_001136051;NM_153377 AAI26170;AAI26172;AAQ88655;AAQ88662;AAR98629;BAC11295;BAF85546;BAG62752;EAW97094;EAW97095;NP_001129523;NP_700356;Q6UXM1 Hs.253736 FLJ26573;FLJ90440;KIAA3016;LIG-3;LIG3 OTTHUMP00000242498;OTTHUMP00000242499;OTTHUMP00000242500;leucine-rich repeats and immunoglobulin-like domains protein 3 protein-coding ENSG00000139263 HGNC:30991 08317 608870 VALIDATED 1313671 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction (inferred); cell projection (inferred); integral component of membrane (inferred); INTERACTS WITH cobalt dichloride; copper(2+) sulfate; cyclosporin A 19 19 19 q13.12 33142210 33150285 + 36428022 36436097 + 35937120 35945195 + 737633;1580863;6480464;8554872 12477932 12975309;14702039;15489334;16495444;16828986;17081983 79414 Q9BTN0 ABBA01018774;AF038458;AK172754;AK313579;AMYH02035997;AY358127;BC003578;KF456567;NM_024509 AAH03578;AAQ88494;ABM84598;ABM86751;BAD18740;NP_078785;Q9BTN0 Hs.143792 FIGLER1;MGC2656;SALM4 fibronectin type III, immunoglobulin and leucine rich repeat domains 1;leucine-rich repeat and fibronectin type-III domain-containing protein 3;synaptic adhesion-like molecule 4 protein-coding ENSG00000126243 HGNC:28370 14309 612809 PROVISIONAL 1352534 LRIT2 leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog); paracetamol (ortholog) 10 10 10 q23.1 79975750 79980793 - 85980241 85985339 - 84220485 84225589 - 6480464 12477932;20237496;20379614 340745 A6NDA9 ABBA01003757;AC022389;AC022394;AL603756;AMYH02023450;BC140765;BC144475;BX648524;CH471142;NM_001017924;NM_001284223 A6NDA9;AAI40766;AAI44476;EAW80360;NP_001017924;NP_001271152 Hs.450425 1341923;1667802;1711400;1735998;1766671;2107285;2156294;2164856;2164858;2173622;2179525 A001T01;D10S1287E;D10S1427;D10S1717;D10S2359;G19610;G42184;LRRC22__6430;RH15739;SHGC-149959;WI-18665 LRRC22 OTTHUMP00000019992;leucine rich repeat containing 22;leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2;leucine-rich repeat-containing protein 22 protein-coding ENSG00000204033 HGNC:23443 18595 VALIDATED 1321391 LRP10 low density lipoprotein receptor-related protein 10 INVOLVED IN endocytosis (inferred); FOUND IN membrane; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 14 14 14 q11.2 3203856 3210189 + 23340822 23350789 + 22871613 22881580 + 6480464 11123907;12477932;12766061;12975309;15101818;15489334;15498874;16751776;19946888;20093106;21139048;22734645;8619474;8889548;9110174 26020 H0YHW7;Q7Z4F1 ABBA01061287;AF131760;AF172816;AF177336;AK025898;AK291030;AL080164;AL110149;AL135998;AL834518;AMYH02028851;AY358399;BC000424;BC018816;BC064901;BC080648;BC088378;BC113714;BC113716;BG699535;BX161500;CD677124;CF125793;CH471078;CR457151;NM_014045;XM_005267510 AAD20037;AAG17980;AAH64901;AAH80648;AAH88378;AAI13715;AAI13717;AAQ13610;AAQ88765;BAF83719;CAB45753;CAD39174;CAD61944;CAG33432;EAW66232;EAW66233;EAW66234;EAW66235;NP_054764;Q7Z4F1;XP_005267567 Hs.525232 1678199;1684524;2130015;2162968;2189415;2189423;2217566;5015861;5022578;5037552;7185938 180;D10S16;D1S1423;D8S2279;LRP10_3807;MARC_5443-5444:991939581:1;MARC_5751-5752:991939703:3;RH1635;RH70905;RH79166 DKFZp564C1940;LRP-10;LRP9;MGC142274;MGC142276;MGC8675;MST087;MSTP087 OTTHUMP00000164496;OTTHUMP00000243387;low-density lipoprotein receptor-related protein 10 protein-coding ENSG00000197324 HGNC:14553 14311 609921 VALIDATED 1343006 LRMP lymphoid-restricted membrane protein The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008] 12 12 12 p12.1 30352134 30408250 + 25205181 25261269 + 25052101 25108335 + 1580863;6480464;8554872 12477932;15489334;16344560;16410263;18029348;18299280;19789190;19946888;20237496;20379614;20453000;20639392;20936779;8021504;8798562;8889548;9314557 4033 F5H006;F8VRE4;F8W9L6;G3V2F6;G3V3C2;G3V513;H0YJ39;H0YJC6;Q12912 ABBA01068014;ABBA01068015;AC023510;AI949664;AK303103;AK303256;AMYH02026217;AMYH02026218;AW206014;AW408383;BC029391;BC100277;BC126417;BC144164;BC144165;BC144170;BG505192;BM466207;BQ220483;BQ420905;BU679233;CH471094;DB135324;JA738685;NM_001204126;NM_001204127;NM_006152;U10485;XM_005253370;XM_005253371;XM_005253372;XM_005253374;XM_006719075;XM_006719076;XM_006719077;XR_242890;XR_429033 AAA21604;AAH29391;AAI26418;ADR83025;BAG64212;BAG64339;CCF76995;EAW96503;EAW96504;EAW96505;NP_001191055;NP_001191056;NP_006143;Q12912;XP_005253427;XP_005253428;XP_005253429;XP_005253431;XP_006719138;XP_006719139;XP_006719140 Hs.124922 1670792;1689091;1728349;1754055;2107281;2109109;2118361;2129902;2154617 CASC1_9888;D12S1350E;G63456;LRMP_7815;RH17991;RH45039;RH92803;SHGC-132095;STS-H93733 JAW1 OTTHUMP00000243182;OTTHUMP00000243183;OTTHUMP00000243184;OTTHUMP00000243185;OTTHUMP00000244197 APPROVED protein-coding ENSG00000118308 HGNC:6690 03593 602003 REVIEWED 1318469 LRP11 low density lipoprotein receptor-related protein 11 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene 6 6 6 q25.1 150874576 150920142 - 150139894 150186398 - 149795188 149864348 - 6480464;8554872 12477932;14574404;14702039;15489334;17620599;18976975;21906983;8125298 84918 B4DS68;Q5VYB9;Q86VZ4 ABBA01025669;ABBA01025670;AK027641;AK223134;AK299599;AL355312;AMYH02014699;BC025239;BC043141;CH471051;N91459;NM_032832;XM_006715583;XM_006715584 AAH25239;AAH43141;BAB55257;BAG61530;EAW47784;EAW47785;NP_116221;Q86VZ4;XP_006715646;XP_006715647 Hs.408355 1664413;1664415;1739541;1776705;2181262;2181264;5037552 A001W48;D6S1224E;D6S1515;D8S2279;G19732;RH16466;SHGC-34285 FLJ14735;LRP-11;MANSC3;MGC39092;bA350J20.3 OTTHUMP00000017405;low-density lipoprotein receptor-related protein 11 protein-coding ENSG00000120256 HGNC:16936 17446 VALIDATED 1312675 LRP12 low density lipoprotein receptor-related protein 12 This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 8 8 8 q22.2 101688117 101787906 - 105501459 105601252 - 104489231 104589024 - 1580863;6480464;8554872 12477932;12809483;14676824;14702039;15489334;18029348;20439316;21139048;21757650;22570617;24024966;9921901;9927190 29967 E5RIW8;Q59H02;Q9Y561 AB208957;ABBA01037649;ABBA01037650;AC087370;AC090827;AF064841;AF166350;AI828757;AK022991;AK126348;AK289752;AK299374;AL698796;AMYH02018552;AMYH02018553;AMYH02018554;AMYH02018555;AP002847;BC017381;BC032109;CH471060;CR749434;CS265759;DC372924;KF458818;NM_001135703;NM_013437 AAD44360;AAH32109;ABM83249;ABM86451;BAD92194;BAF82441;BAG54310;BAG61364;CAH18272;CAJ78400;EAW91895;EAW91896;EAW91897;EAW91898;NP_001129175;NP_038465;Q9Y561 Hs.600630;Hs.715867 1688981;1713081;2109481;2137028;5015861;5024761;5037552;7185938 D10S16;D8S2279;G32152;LRP12_9618;RH120328;RH36905;RH91323 DKFZp781F1053;FLJ12929;ST7 OTTHUMP00000227839;OTTHUMP00000227840;low-density lipoprotein receptor-related protein 12;suppressor of tumorigenicity 7 protein APPROVED protein-coding ENSG00000147650 HGNC:31708 17447 REVIEWED 731744 LRP4 low density lipoprotein receptor-related protein 4 This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010] 11 11 11 p11.2 47024050 47085802 - 46878268 46940173 - 46856717 46918622 - 68762;1580863;6480464;7240710;8549508;8554872;8699517 23032192;9693030 12421765;12477932;15489334;16344560;16517118;16554811;17549794;17620599;19079262;20005200;20205790;20381006;20554715;20686565;21471202;21502573;21645651;21890473;21969364;22794264;23321396;23664847;24097068;24297891;24530233 4038 E9PNJ5;O75096 AB011540;AB084910;AB231861;ABBA01060726;ABBA01060727;ABBA01060728;AC021573;AK027175;AMYH02024713;AMYH02024714;AMYH02024715;BC037360;BC041048;BC136667;BC136668;BQ446811;CH471064;DA799511;DB061460;NG_021394;NM_002334;XM_005252923;XM_006718231 AAH37360;AAH41048;AAI36668;AAI36669;BAA32468;BAD83615;BAE19679;EAW67974;EAW67975;NP_002325;O75096;XP_005252980;XP_006718294 Hs.4930 1854047 NIB347 CLSS;KIAA0816;LRP-4;LRP10;MEGF7;SOST2 OTTHUMP00000234021;low-density lipoprotein receptor-related protein 4;multiple epidermal growth factor-like domains 7 APPROVED protein-coding ENSG00000134569 HGNC:6696 18517 212780;604270;614305 REVIEWED 733839 LRP3 low density lipoprotein receptor-related protein 3 INVOLVED IN receptor-mediated endocytosis (inferred); FOUND IN coated pit (inferred); integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; copper(2+) sulfate 19 19 19 q13.11 30379187 30393366 + 33685599 33699773 + 33194693 33208867 + 633319;1580863;6480464 9693042 11390366;12477932;14702039;15489334;16303743;16344560;7959795;8889548 4037 O75074;V9GYG8 AB009462;ABBA01039621;AC008738;AF085860;AK074751;AK126750;AK129963;AK295505;AK296536;AK316314;AMYH02035938;BC007408;BU739456;DA496540;DR002806;HG510641;NM_002333;XM_005258945 AAH07408;ABW03838;BAA32330;BAC85262;BAG51998;BAG58424;BAG59164;BAH14685;NP_002324;O75074;XP_005259002 Hs.515340 2145241 SHGC-52396 LRP-3;hLRp105 105 kDa low-density lipoprotein receptor-related protein;CTD-2540B15.13;low-density lipoprotein receptor-related protein 3 protein-coding ENSG00000130881 HGNC:6695 04406 603159 VALIDATED 6767168 LRP4-AS1 LRP4 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 11 11 11 47013725 47041753 + 46867962 46895967 + 46846411 46874416 + 8554872 21502573 100507401 ABBA01060728;AC021573;AMYH02024713;AMYH02024714;DB443018;DB507953;HG503761;HG503762;NR_038909 Hs.675301 1685806;1700372;1854047 NIB347;RH103806;RH75410 RP11-411D10.1 APPROVED ncrna ENSG00000247675 HGNC:44128 VALIDATED 1601755 LRP2BP LRP2 binding protein FOUND IN cytoplasm (inferred); INTERACTS WITH atrazine; benzo[a]pyrene (ortholog); cadmium dichloride (ortholog) 4 4 4 q35.1 183611183 183626320 - 186285032 186318297 - 185363878 185396860 - 6480464 10718198;12477932;12508107;15809689;19366958;19577669 55805 D6RGF6;G5E9Z9;Q9P2M1 AB037746;ABBA01070531;ABBA01070532;AC073344;AC106897;AC112722;AK126913;AL161975;AMYH02010661;AMYH02010662;BC150161;BC152444;CH471056;NM_018409;XM_005263123;XM_005263124;XM_005263125;XM_006714260;XM_006714261;XM_006714262;XM_006714263;XM_006714264;XM_006714265 AAI50162;AAI52445;BAA92563;BAG54395;CAB82313;EAX04649;EAX04650;NP_060879;Q9P2M1;XP_005263180;XP_005263181;XP_005263182;XP_006714323;XP_006714324;XP_006714325;XP_006714326;XP_006714327;XP_006714328 Hs.558513 1657674;1658488;1773006;1776112;5015619;5022578 D11S3114;D1S1423;G33559;SGC38377;SHGC-37425;STS-H99959 DKFZp761O0113;FLJ44965;megBP LRP2-binding protein;OTTHUMP00000218251;OTTHUMP00000218253;OTTHUMP00000218254;megalin-binding protein protein-coding ENSG00000109771 HGNC:25434 10911 VALIDATED 1606195 LRP5L low density lipoprotein receptor-related protein 5-like INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 22 22 22 q11.23 9551510 9581668 - 25747218 25801337 - 25351418 25381577 - 6480464 12477932;14702039;21900206;7566098 91355 A4QPB2;F5H316 AA307886;ABBA01055171;AK125903;AL022324;AL137651;AMYH02038157;BC091519;BC137460;BC137463;BC139736;CH471095;NM_001135772;NM_182492;XM_006724372 A4QPB2;AAI37461;AAI37464;AAI39737;EAW59690;NP_001129244;NP_872298;XP_006724435 Hs.634058 1747367 G65410 DKFZp434O0213 LRP-5-like;OTTHUMP00000198679;OTTHUMP00000198680;low-density lipoprotein receptor-related protein 5-like protein protein-coding ENSG00000100068 HGNC:25323 13200 VALIDATED 1316786 LRP1 low density lipoprotein receptor-related protein 1 The protein encoded by this gene is an endocytic receptor involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the A2M-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer patients. [provided by RefSeq, Jan 2010] 12 12 12 q13.3 57176220 57261424 + 57522282 57607142 + 57128499 57213359 + 1625030;1581910;1581921;1625022;1581913;1625012;1358747;1581911;1580863;6480464;6484113;6907045;7243102;8554872 12402342;14557872;14623925;14739216;15121769;16979164;17303763;18037995;9635959 10318830;10471328;10514495;10608878;10632583;10652313;10747918;10772929;10827173;10880251;11006321;11076057;11100124;11158305;11247302;11248808;11279011;11359936;11421580;11436125;11479307;11560994;11600564;11705989;11720768;11729193;11823454;11854294;11861214;11867643;11907044;11931574;11992244;12069755;12169628;12194978;12212791;12393177;12394648;12412500;12417024;12473559;12477932;12522143;12522212;12531796;12555245;12637503;12672816;12713657;12732394;12750160;12789267;12793904;12807892;1281473;12821648;12857755;12888553;12960961;1374383;1377168;1423505;14585398;14593097;14597676;14645246;1464627;14699139;14702039;14739301;14980518;14991768;15001579;1502153;15044004;15048651;15131125;15135046;15226301;15231748;15264223;15272003;15288502;15294142;15328156;15591119;15634227;15647823;15705569;15705932;15749709;15769472;15772078;15800028;15863833;15925094;15944146;16040006;16088940;16102056;16167883;16175004;16328515;16335952;16362633;16402284;16407289;16459332;16567404;16606588;16697011;16697675;16751776;16807059;16821592;16839343;16929535;16956829;1698775;17012232;1702392;17124247;17155964;1718973;17203175;17258834;17326667;17360663;17570828;17620659;17694066;17709443;17711877;17889283;17897319;17908054;17942912;17974965;18156630;18166789;18194421;18231792;18277139;18281370;18288927;18317248;18321860;18373737;18381291;18489712;18635818;18648652;18653767;18683150;18685438;18706476;18834984;18940800;18941243;18990694;19008962;19036715;19036954;19098903;19105203;19176371;19251705;19299462;19336475;19383717;19393132;19420105;19439404;19446849;19615732;19631509;19664312;19665999;19684401;19795391;19815552;19823686;19885591;19913121;19948975;19968964;20048078;20101615;20167577;20205790;20220145;20381197;20468060;20472562;20535486;20558745;20568118;20610799;20628086;20637261;20644732;20685197;20686565;20716178;20826454;20869432;20980003;21054788;21078624;2112085;21139048;21165580;21212259;21325077;21383009;21391865;21408136;21454812;21471105;21496869;21518850;21610072;21650223;21666692;21671167;21676498;21676865;21946350;21951552;21966368;21968187;22027013;22034896;22055160;22072275;22081071;22238606;22268729;22298529;22347399;22392894;22412921;22427881;22454511;22467855;22534531;22683712;22711991;22817990;22819221;22822085;22873206;22914594;22967844;23064555;23096408;23166318;23167255;23186781;23228658;23241409;23264627;23267846;23284291;23357958;23386606;23386614;23404896;23425335;23484911;23498137;23640058;23675525;23755898;23793025;23812296;23898049;23922991;23926111;23936774;23959870;24030729;24054777;24072693;24097068;24126057;24129569;24139096;24474687;24484584;24504736;24877199;2548950;2597675;2779654;3266596;7508685;7510694;7534747;7543026;7721852;7775583;7961982;7989348;8307199;8546712;8626514;8703036;8806749;9045712;9045716;9051770;9252371;9295345;9782078;9804823;9820815;9837937 4035 H0YJ88;H0YJI8;Q07954;Q59FG2;Q6PJ72;Q7Z7K9;Q86SW0 AB209498;ABBA01008451;ABBA01008452;ABBA01008453;ABBA01026708;ABBA01026709;AC023237;AC137628;AC137834;AF058427;AF370375;AK122840;AMYH02026578;BC021204;BC045107;BC052593;BC072015;BU502641;CH471054;DQ314873;NG_016444;NM_002332;X13916;X15424;X55077;Y18524;Y18525 AAC64265;AAH21204;AAH45107;AAH52593;AAH72015;AAQ15211;ABC40732;BAD92735;CAA32112;CAA33464;CAA38905;CAA77211;CAD57169;EAW96990;EAW96991;NP_002323;Q07954 Hs.162757 1754879;2144387;2147010;5108386 D12S113E;G28611;RH44498;SHGC-141809 A2MR;APR;CD91;FLJ16451;IGFBP3R;LRP;LRP-1;LRP1A;MGC88725;TGFBR5 APOER;OTTHUMP00000245726;TbetaR-V/LRP-1/IGFBP-3 receptor;alpha-2-macroglobulin receptor;apolipoprotein E receptor;prolow-density lipoprotein receptor-related protein 1;type V tgf-beta receptor APPROVED protein-coding ENSG00000123384 HGNC:6692 00138 107770 REVIEWED 1314617 LRP1B low density lipoprotein receptor-related protein 1B LRP1B belongs to the low density lipoprotein (LDL) receptor gene family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands (Liu et al., 2001 [PubMed 11384978]).[supplied by OMIM, Mar 2008] 2 2 2 q21.2 134700555 136601626 - 140988996 142889270 - 140231427 142131701 - 1580863;6480464;8554872 10766186;11031110;11384978;12004004;12194987;14702039;15126508;15166012;15172977;15963947;16095885;16918994;17227771;17620599;19367585;20095042;20379614;20395239;20932654;20935630;21057533;21102462;21145461;21420681;21953277;23382691;23521319;24024966;24159190 53353 E7ERG8;H0Y7T7;H7C0A8;Q9NZR2 AB209707;ABBA01028090;ABBA01028091;ABBA01028092;ABBA01028093;ABBA01028094;ABBA01028095;ABBA01028096;ABBA01028097;ABBA01028098;ABBA01028099;ABBA01028100;ABBA01028101;ABBA01028102;ABBA01028103;ABBA01028104;ABBA01028105;ABBA01028106;AC010740;AC012003;AC012353;AC068195;AC068287;AC068943;AC073319;AC078882;AC079585;AC087056;AC092156;AC092575;AC093039;AC093859;AC108036;AC110087;AC110770;AC117947;AF176832;AF283327;AF283328;AF283329;AF283330;AF283331;AF283332;AF283333;AF283334;AF283335;AF283336;AF283337;AF283338;AF283339;AF283340;AF283341;AF283342;AF283343;AF283344;AF283345;AF283346;AF283347;AF283348;AF283349;AF283350;AF283351;AF283352;AF283353;AF283354;AF283355;AF283356;AF283357;AF283358;AF283359;AF283360;AF283361;AF283362;AF283363;AF283364;AF283366;AF283367;AF283368;AF283369;AF283370;AF283371;AF283372;AF283373;AF283374;AF283376;AF283377;AF283378;AF283379;AF283380;AF283381;AF283382;AF283383;AF283384;AF283385;AF283386;AF283387;AF283388;AF283389;AF283390;AF283391;AF283392;AF283393;AF283394;AF283395;AF283396;AF283397;AF283398;AF283399;AF283400;AF283401;AF283402;AF283403;AF283404;AF283405;AF283406;AF283407;AF283408;AF283409;AF283410;AF283411;AF283412;AF283414;AF283415;AF283416;AK054663;AMYH02004888;AMYH02004889;AMYH02004890;AMYH02004891;AMYH02004892;AMYH02004893;AMYH02004894;AMYH02004895;AMYH02004896;AMYH02004897;AMYH02004898;AMYH02004899;AMYH02004900;AMYH02004901;AMYH02004902;AMYH02004903;AMYH02004904;AMYH02004905;AMYH02004906;AMYH02004907;CH471058;KF456719;NM_018557 AAF70379;AAL38107;AAL38108;AAL38109;AAL38110;AAL38111;AAL38112;AAX81990;AAX88846;AAX88911;AAX88968;AAX93075;AAX93103;AAX93208;AAX93243;AAY14689;AAY15024;AAY24167;AAY24318;BAB70786;BAD92944;EAX11602;NP_061027;Q9NZR2 Hs.656461 1335535;1336321;1336652;1339868;1340948;1342082;1342370;1646900;1647011;1668664;1670835;1672764;1676588;1681915;1685215;1695572;1696508;1704734;1705252;1707130;1710952;1717217;1718357;1718597;1720351;1726593;1726953;1727555;1728065;1728179;1738459;1744351;1752497;1767558;1783920;1784012;1784198;1784290;1857683;2130284;2130578;2141759;2146879;2165588;2172359;5093296;5491439;7185617;7186679 1850;A009L02;D13S1153;D2S127;D2S129;D2S1764;D2S1769;D2S1840;D2S1863;D2S2007;D2S2053;D2S2239;D2S2266;D2S2286;D2S2334;D2S349;D4S2727;G32635;G62529;G62722;G63035;G63303;G63512;GDB:451785;MARC_12159-29372:1046810869:1;RH122023;RH122951;RH122984;RH123926;RH91786;RH92045;SGC38031;SHGC-106350;SHGC-107477;SHGC-143348;SHGC-14438;SHGC-155491;SHGC-1646;SHGC-16622;SHGC-60470;SHGC-62012;SHGC-68764;SHGC-78116;SHGC-79647;SHGC-81331;SHGC-83144;SHGC-84451 LRP-1B;LRP-DIT;LRPDIT LRP-deleted in tumors;OTTHUMP00000162611;low density lipoprotein receptor related protein-deleted in tumor;low density lipoprotein-related protein 1B (deleted in tumors);low-density lipoprotein receptor-related protein 1B;low-density lipoprotein receptor-related protein-deleted in tumor APPROVED protein-coding ENSG00000168702 HGNC:6693 16383 608766 VALIDATED 1313932 LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011] 1 1 1 p34 51999058 52081130 - 53708036 53793821 - 53242364 53328149 - 1358346;1358468;2306125;2306124;2324974;6480464;6483063;6483065;6483062;6483059;6484113;6483064;7240710;8554872 12399018;12764038;12893944;17614163;17847002;18592168;19846452;20208369;21119114;22419519 10218790;10231386;10380922;10508213;10571240;10827173;11152697;11369809;12167620;12169628;12426372;12477932;12621059;12670700;12681505;12807892;12824284;12871934;12899622;12950167;14702039;14732905;15313836;15459198;15489334;15950758;16034672;16332682;16481437;16642433;16951405;17470198;18039658;18089558;18489431;19056482;19116273;19282863;19439088;19661487;19720620;19913121;19946888;19948739;20331378;20493228;20628086;21157031;21316997;21347244;21554715;21601501;21906983;21963094;22109552;22170052;22404453;22589174;22889673;23192594;23524007;23739027;24076391;24344333;8626535;9079678 7804 E9PKG2;E9PP15;H0YCA4;H0YEA5;H0YEV6;Q14114 AA775280;ABBA01074742;AK096482;AK122887;AL119002;AL355483;AL606760;AMYH02001035;BC006443;BC051836;BE543079;BM477111;CD300289;CF593917;CH471059;D50678;D86407;DB452432;DB455425;DR002432;HG492034;NG_011517;NM_001018054;NM_004631;NM_017522;NM_033300;XM_005271173;XM_005271174;XM_005271175;XM_005271176;XM_006710881;XM_006710882;Z75190 AAH06443;AAH51836;BAA09328;BAA21824;BAA21825;BAG53302;CAA99509;EAX06740;EAX06741;EAX06742;EAX06743;EAX06744;EAX06745;NP_001018064;NP_004622;NP_059992;NP_150643;Q14114;XP_005271230;XP_005271231;XP_005271232;XP_005271233;XP_006710944;XP_006710945 Hs.280387 1653102;1692322;1765311;2153398;2217570;5022651 AL033818;D11S2921;LRP8_3896;SHGC-148805;SHGC-32417;SHGC-74840 APOER2;HSZ75190;LRP-8;MCI1;RP5-1024G6.8 ApoE receptor 2;OTTHUMP00000010479;OTTHUMP00000010480;OTTHUMP00000010481;OTTHUMP00000231869;apolipoprotein E receptor 2;low-density lipoprotein receptor-related protein 8 APPROVED protein-coding HGNC:6700 04002 602600;608446 REVIEWED 1354477 LRPAP1 low density lipoprotein receptor-related protein associated protein 1 This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 4 4 4 p16.3 3424737 3444504 - 3505324 3534224 - 3503597 3532497 - 1358749;1581921;1581922;1580863;1641936;1641937;6480464;6484113;8554872 11425005;12394648;14557872;7723231;7778686 10071930;10464330;10571241;10747918;10783161;11006321;11167825;11181995;11382778;11384978;11557679;11735425;11793025;11912251;11992244;12477932;12637503;12899622;1374383;1400426;14674767;14959998;15213425;15342917;15489334;15576338;15815621;16169070;16175004;16263759;16344560;16517593;16630895;16650578;16678114;16704534;16798736;16837242;16938309;17000644;17123336;1712782;1718973;17536759;17913606;17987404;18029348;18055545;18075286;18494379;18721259;19098903;19826010;19851296;19913121;20002523;20198315;20403997;20628086;20637261;20936779;21062971;21139048;21988832;2229028;23000965;23754288;23830514;23894629;23969696;24097068;24250222;24816145;3266596;7510321;7512726;7535288;7538675;7592875;7615497;7774585;7789983;7822276;7959795;8083232;8125298;8610058;8654360;8940146;9010785;9013611;9099728;9207124;9712858;9727037;9782079;9873007 4043 D6REW6;P30533 ABBA01029467;AF035767;AK222504;AK222527;AK292321;AK310598;AK310851;AK311600;AK312698;AL365520;AL365522;AL590235;AMYH02008633;BC007841;BC105074;BC112067;BX647984;CH471131;CS101462;DB035408;HG496681;M63959;NG_033873;NM_002337;NR_110005;U06976 AAA51553;AAA87889;AAC67373;AAH07841;AAI05075;AAI12068;BAD96224;BAD96247;BAF85010;BAG35576;CAJ00723;EAW82460;EAW82461;NP_002328;P30533 Hs.40966 1649043;1660747;1721483;1730031;1742471;1744875;1745463;1851765;1854184;2127957;2155987;2166627;5016506;5022651;5109281;7184660 D11S2921;D1S1425;D4S125;G33876;G59595;GDB:197442;GDB:574135;GDB:574140;GDB:607744;SHGC-31233;SHGC-51659;SHGC-59848;STS-L33987;STS-U06976;WI-22663 A2MRAP;A2RAP;HBP44;MGC138272;MRAP;MYP23;RAP;RP11-529E10.6;alpha-2-MRAP 39 kDa receptor-associated protein;OTTHUMP00000115346;alpha-2-macroglobulin receptor-associated protein;alpha-2-macroglobulin receptor-associated protein 1;lipoprotein receptor associated protein;low density lipoprotein receptor-related protein-associated protein 1;low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1) protein-coding HGNC:6701 00082 104225;615431 REVIEWED 1322717 LRR1 leucine rich repeat protein 1 The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011] 14 14 14 q21.3 29925243 29941208 + 50065383 50081390 + 49598665 49614672 + 6480464 11804328;12477932;15489334;15601820;19295130;19615732;21074724;21139048;21145461;21906983;21963094;22948661;23000965;25011449 122769 G3V5H2;Q6AWA7;Q6P393;Q96L50 AA742244;ABBA01018110;ABBA01018111;AK293156;AL139099;AMYH02029147;AMYH02029148;AY052405;BC030142;BC064133;BC093697;BC107888;BC112241;BC139921;BI825814;BI826606;BI829295;BQ059807;BX248298;BX648029;CH471078;NM_152329;NM_203467;NR_037792;NR_037793;XM_006720028;XR_245664 AAH30142;AAH64133;AAH93697;AAI07889;AAI12242;AAI39922;AAI46426;AAI48860;AAL11430;ABM83195;ABM86396;BAG56701;CAD62625;CAH10374;EAW65761;EAW65762;EAW65763;EAW65764;NP_689542;NP_982292;Q96L50;XP_006720091 Hs.451090 1699254;2146981;2164074 G36188;RH103208;SHGC-57967 4-1BBLRR;LRR-1;MGC20689;PPIL5 4-1BB-mediated signaling molecule;4-1BB-mediated-signaling molecule;LRR-repeat protein 1;OTTHUMP00000178930;OTTHUMP00000178931;OTTHUMP00000244627;OTTHUMP00000244628;cyclophilin-like 5;leucine-rich repeat protein 1;peptidylprolyl isomerase (cyclophilin) like 5;peptidylprolyl isomerase (cyclophilin)-like 5, isoform 3;peptidylprolyl isomerase-like 5 APPROVED protein-coding ENSG00000165501 HGNC:19742 15164 609193 REVIEWED 1348592 LRRC10 leucine rich repeat containing 10 ENCODES a protein that exhibits actin binding (inferred); alpha-actinin binding (inferred); INVOLVED IN cardiac muscle cell development (inferred); FOUND IN cytoskeleton (inferred); mitochondrion (inferred); nucleus (inferred); INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog); titanium dioxide (ortholog) 12 12 12 q15 69666001 69668599 - 70002344 70004942 - 69608564 69611162 - 6480464 12477932;14702039;14751244;15489334;18391951 376132 Q3KP57;Q5BKY1 ABBA01026537;AC018921;AK095935;AK123908;AMYH02026713;BC090881;BC106892;BC106893;CH471054;NM_201550 AAH90881;AAI06893;AAI06894;BAC85724;EAW97231;NP_963844;Q5BKY1 Hs.448708 5493639 UniSTS:490079 HRLRRP;LRRC10A;MGC125812 OTTHUMP00000240979;leucine-rich repeat-containing protein 10 protein-coding ENSG00000198812 HGNC:20264 17449 610846 PROVISIONAL 1319617 LRP5 low density lipoprotein receptor-related protein 5 This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 11 11 11 q13.4 65414949 65552023 + 68080077 68216743 + 68312609 68449275 + 1599835;1625350;1580863;2293188;2293491;6480464;6484113;6907045;7240710;8554872;8699517 15346351;15923619;17002564;18432252 10049586;11029007;11336703;11401438;11448771;11516963;11719191;11741193;11793484;12015390;12054167;12121999;12477932;12509515;12579474;12581525;12700977;12817748;12857724;14727154;14731402;14735475;15024691;15035989;15077203;15084453;15201508;15221492;15231748;15355556;15619672;15777745;15781005;15824851;15824861;15908424;15923613;15979013;15981244;16115379;16168727;16234968;16355283;16513652;16613987;16622736;16631011;16679074;16723389;16754270;16772034;16956801;16958596;17002572;17052975;17086708;17087607;17137849;17202888;17223614;17229572;17241106;17276019;17306638;17307038;17505772;17680723;17700537;17953969;17955262;17972053;18026682;18044981;18058054;18073493;18285546;18349089;18350154;18406176;18418639;18455228;18493104;18502762;18521528;18524778;18588671;18632848;18676680;18684085;18721193;18762581;18825883;18932002;19023643;19107203;19147944;19148563;19158955;19170196;19177549;19225709;19233690;19336475;19453261;19506792;19571442;19625176;19629617;19673927;19692168;19746449;19789208;19801982;19810105;19851296;19898734;19913121;19948975;20034086;20045498;20101398;20141633;20146170;20198315;20200960;20200978;20301326;20534768;20554715;20613673;20628086;20630166;20846389;20926594;20953208;20960157;20961463;21116122;21139048;21147715;21351148;21397183;21407258;21432225;21471826;21528003;21542013;21774378;21821287;21840657;21885484;21887268;21906983;21963094;22000856;22167346;22207519;22303459;22487062;22504420;22513174;22589387;22696217;22848540;23041840;23054017;23077402;23238007;23242660;23318847;23441120;23490293;23800666;24130145;24249740;24266894;24403228;24412065;24706814;24715757;24921217;7775583;8659519;9199553;9714764;9790987;9831343 4041 E9PHY1;H0YE98;O75197 AA279383;AA953315;AB017498;ABBA01023997;ABBA01023998;ABBA01023999;ABBA01024000;ABBA01024001;ABBA01024002;AF064548;AF077820;AF088027;AF283320;AF283321;AI583742;AMYH02025011;AMYH02025012;AMYH02025013;AMYH02025014;AMYH02025015;AMYH02025016;AMYH02025017;AP000807;AP002813;BC098397;BC150595;CH471076;DN999254;KF455408;NG_015835;NM_001291902;NM_002335;XM_005273994 AAC36467;AAC72791;AAI50596;AAK52433;BAA33051;EAW74705;EAW74706;NP_001278831;NP_002326;O75197;XP_005274051 Hs.6347 1298330;1340317;1340887;1341994;1663604;1676854;1687666;1722861;1738047;1757145;2108217;2148932;7187871 AFM289ya9;D11S1337;D11S3666;D11S4087;D11S4178;D11S970;D11S987;G60523;LRP5_7818;RH11806;RH12415;SHGC-144578 BMND1;EVR1;EVR4;HBM;LR3;LRP-5;LRP7;OPPG;OPS;OPTA1;VBCH2 OTTHUMP00000236183;low density lipoprotein receptor-related protein 7;low-density lipoprotein receptor-related protein 5 1643405 BMD9_H APPROVED protein-coding ENSG00000162337 HGNC:6697 04616 144750;166710;259770;601813;601884;603506;607634;607636 REVIEWED 736558 LRIT1 leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 FOUND IN integral component of endoplasmic reticulum membrane (ortholog); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; bisphenol A; 17alpha-ethynylestradiol (ortholog) 10 10 10 q23 79986785 79996866 - 85991276 86001217 - 84231520 84241461 - 633658;1580863;6480464 10777785 16385451;17081983;20237496;20800603 26103 Q9P2V4 AB031547;ABBA01003756;ABBA01003757;AC022389;AL080175;AMYH02023450;CH471142;NM_015613 AAI40297;BAA95681;CAB45761;EAW80359;NP_056428;Q9P2V4 Hs.226000 2106541 LRRC21__6429 DKFZp434K091;FIGLER9;LRRC21;PAL OTTHUMP00000019991;fibronectin type III, immunoglobulin and leucine rich repeat domains 9;leucine rich repeat containing 21;leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1;leucine-rich repeat-containing protein 21;photoreceptor-associated LRR superfamily protein;retina-specific protein PAL protein-coding ENSG00000148602 HGNC:23404 14315 VALIDATED 68599 LRP2 low density lipoprotein receptor-related protein 2 The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009] 2 2 2 q31.1 163608960 163839028 - 169983619 170219123 - 169127109 169362613 - 1580863;1641843;1641827;1641836;1641842;1641839;1641847;5510026;5490966;6480464;6484113;6907045;7240710;8554872;8699517 10404822;10919857;11685557;11841627;12121845;15266031;18772397;20635334 10073957;10203351;10330424;10364184;10753646;10769163;10772929;10827173;10982792;11095640;11158855;11274227;11278724;11421580;11595644;11717447;11912251;11994745;12107412;12169628;12508107;12707383;12713445;12723989;12768436;12879166;1382088;14528014;14657389;15134832;15583024;15670845;15951480;16174284;16344560;16713569;16828734;16908842;17260971;17457342;17474147;17555532;17632512;17897319;17979745;18070591;18174661;18448595;18559602;18685438;18791690;19056867;19913121;19940034;20031551;20038220;20052685;20139978;20301533;20301732;20379614;20468071;20628086;20800603;20971101;21079607;21104416;21595846;22170372;22174918;22437417;22565184;22578327;22649097;23274376;23275343;23673647;23909735;23978537;24093454;24197071;2786251;7512726;7579068;7657789;7686151;7768901;7775583;7959795;8187828;8344937;8706697;8710893;8898021;9071320;9228033;9334227;9492085;9655248;9727058;9773776;9837937 4036 E9PC35;P98164;Q7Z5C0;Q7Z5C1 ABBA01004962;ABBA01004963;ABBA01004964;AC007556;AC008178;AF065440;AK295005;AK302843;AMYH02005176;AMYH02005177;AMYH02005178;AMYH02005179;AMYH02005180;AMYH02005181;AMYH02005182;AY265357;AY265358;CD673312;CH471058;DA200673;DA339827;DA401915;NG_012634;NM_004525;S73145;U04441;U33837;XM_006712526;XM_006712527;XM_006712528 AAB02882;AAB30825;AAB41649;AAC17129;AAP88585;AAP88586;AAX88965;AAY24266;BAG58066;BAG64033;EAX11280;NP_004516;P98164;XP_006712589;XP_006712590;XP_006712591 Hs.657729 1645809;1647482;1661997;1705188;1713219;1724823;1725177;2108215;2118339;2119668;5093446 A009P03;D2S1416;D2S2879;G32722;LRP2_7816;RH120397;RH123671;RH124065;RH45139;SHGC-80045;WI-17537 DBS;GP330;LRP-2 Heymann nephritis antigen homolog;OTTHUMP00000163042;calcium sensor protein;glycoprotein 330;low-density lipoprotein receptor-related protein 2;megalin APPROVED protein-coding ENSG00000081479 HGNC:6694 02509 222448;600073 REVIEWED 1348401 LRRC14 leucine rich repeat containing 14 This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 8 8 8 q24.3 141919071 141926237 + 145743349 145750562 + 144517965 144525178 + 6480464;8554872 12477932;15489334;18976975;19295130;19615732;21139048;21145461;24250222;7584026 9684 E9PNL0;E9PP40;E9PRP5;Q15048 ABBA01005200;AC084125;AK289473;AMYH02019009;BC011377;BU634522;CH471162;D25216;NG_033083;NM_001272036;NM_014665;XM_005272358;XM_005272359;XM_005272360;XM_005272361;XM_006716688;XM_006716689 AAH11377;ACT64568;ACT64569;BAA04946;BAF82162;EAW82066;EAW82067;EAW82068;EAW82069;NP_001258965;NP_055480;Q15048;XP_005272415;XP_005272416;XP_005272417;XP_005272418;XP_006716751;XP_006716752 Hs.459391 1790463;2118336;2124514 LW61-40;RH25253;SGC30393 KIAA0014;LRRC14A OTTHUMP00000228789;OTTHUMP00000228790;leucine-rich repeat-containing protein 14 protein-coding ENSG00000160959 HGNC:20419 14312 VALIDATED 1318108 LRRC1 leucine rich repeat containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 6 6 6 p12.1 55321959 55451099 + 53659295 53789490 + 53794980 53924121 + 1580863;6480464;8554872 11440998;12200217;12477932;14702039;15489334;16169070;16344560;18029348;19322201;19596235;21139048;21832049;21890473;21906983;21963094;22939629;23000965;23602568;23645086;24816145 55227 Q5T0G3;Q9BTT6 ABBA01050522;ABBA01050523;AF332199;AF359380;AJ420513;AK001637;AK021896;AK292248;AL033384;AL513211;AMYH02013752;AU119761;BC003193;CH471081;NM_018214 AAH03193;AAK69623;AAK72246;ABW03439;BAA91801;BAB13929;BAF84937;EAX04429;EAX04430;NP_060684;Q9BTT6 Hs.606493;Hs.646997 1334969;1341760;1694158;1700754;1725085;1758661;2113272;2152905;2175257;2187685;2187687;2187689;2187691;2219916 AL035183;D6S1573;D6S2405;D6S466;G67400;G67401;G67403;G67404;LRRC1__6424;RH104002;RH118838;RH46765;RH47431;SHGC-149098 FLJ10775;FLJ11834;LANO;dJ523E19.1 LANO adapter protein;LAP (leucine-rich repeats and PDZ) and no PDZ protein;LAP and no PDZ protein;OTTHUMP00000016634;leucine-rich repeat-containing 1;leucine-rich repeat-containing protein 1 protein-coding ENSG00000137269 HGNC:14307 608195 VALIDATED 1315270 LRPPRC leucine-rich pentatricopeptide repeat containing This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012] 2 2 2 p21 43952087 44062100 - 44113363 44223144 - 43886224 43996005 - 1600674;1600676;1580863;6480464;7240710;8554872;8699517 12529507;17050673 11464862;11827465;12477932;12762840;12832482;14743216;15047060;15272088;15907802;16196087;17314511;17353931;18029348;18063578;18457437;18781797;19615732;19738201;19946888;20186120;20200222;20201926;20220140;20308539;20473970;20562859;20633537;20843780;20877624;21081666;21109938;21139048;21252943;21266382;21319273;21525035;21693764;21890473;21971050;21987572;22045337;22145905;22190034;22268729;22446626;22586326;22623428;22661577;22797925;22808186;22904065;22939629;22952844;23000965;23125841;23184937;23254330;23349634;23358156;23361976;23443559;23599432;23798571;23822101;23825951;23878239;24244333;24337577;24375316;24457600;24583282;24639526;24816145;24984263;25027693;8012652;8619474;9110174 10128 B8ZZ38;C9JCA9;E5KNY5;H7C3W8;P42704 ABBA01075097;ABBA01075098;AC108476;AC127379;AF052133;AK125781;AK130686;AK290016;AK299869;AK308348;AMYH02003700;AMYH02003701;AMYH02003702;AY289212;BC010282;BC026034;BC038181;BC050311;BC130285;BQ021667;CH471053;HQ205426;HQ205427;HQ205428;HQ205429;HQ205430;HQ205431;HQ205432;HQ205433;HQ205434;HQ205435;HQ205436;HQ205437;HQ205438;HQ205439;HQ205440;HQ205441;HQ205442;HQ205443;HQ205444;HQ205445;HQ205446;HQ205447;HQ205448;HQ205449;HQ205450;HQ205451;HQ205452;HQ205453;HQ205454;HQ205455;HQ205456;HQ205457;HQ205458;HQ205459;HQ205460;HQ205461;HQ205462;HQ205463;HQ205464;HQ205465;M92439;NG_008247;NM_133259;XM_006711915;XM_006711916 AAA67549;AAH10282;AAH26034;AAH50311;AAI30286;AAP41922;AAY24012;AAY24043;ADP90894;ADP90895;ADP90896;ADP90897;ADP90898;ADP90899;ADP90900;ADP90901;ADP90902;ADP90903;ADP90904;ADP90905;ADP90906;ADP90907;ADP90908;ADP90909;ADP90910;ADP90911;ADP90912;ADP90913;ADP90914;ADP90915;ADP90916;ADP90917;ADP90918;ADP90919;ADP90920;ADP90921;ADP90922;ADP90923;ADP90924;ADP90925;ADP90926;ADP90927;ADP90928;ADP90929;ADP90930;ADP90931;ADP90932;ADP90933;BAC86287;BAF82705;BAG61722;EAX00284;NP_573566;P42704;XP_006711978;XP_006711979 Hs.368084 1335659;1341481;1659595;1675852;1709400;1775818;1778324;1789566;2127281;2182713;5015663 ATA47C04;D2S1761;D2S1882;D2S2298;D2S4009;RH11763;RH65967;RH70240;RH91337;SHGC-8019;SHGC-81724 CLONE-23970;GP130;LRP130;LSFC 130 kDa leucine-rich protein;LRP 130;OTTHUMP00000202377;leucine-rich PPR motif-containing protein, mitochondrial;leucine-rich PPR-motif containing;mitochondrial leucine-rich PPR motif-containing protein APPROVED protein-coding ENSG00000138095 HGNC:15714 06343 220111;607544 REVIEWED 3208116 LRRC10B leucine rich repeat containing 10B INTERACTS WITH 2-methoxyethanol (ortholog); benzo[a]pyrene (ortholog); C60 fullerene (ortholog) 11 11 11 q12.2 58611635 58613853 + 61276272 61278490 + 61508800 61511018 + 6480464 16554811;24250222 390205 A6NIK2 ABBA01003201;AMYH02024879;AMYH02024880;AP003108;AW137416;NM_001145077 A6NIK2;NP_001138549 Hs.441122 2110235 UniSTS:471080 LRRC10-like protein ENSP00000367315;OTTHUMP00000238202;leucine rich repeat containing 10-like;leucine-rich repeat-containing protein 10B protein-coding ENSG00000204950 HGNC:37215 VALIDATED 733250 LRRC15 leucine rich repeat containing 15 ENCODES a protein that exhibits collagen binding; fibronectin binding; laminin binding; INVOLVED IN negative regulation of establishment of protein localization to plasma membrane; positive regulation of cell migration; receptor-mediated virion attachment to host cell; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; genistein; valproic acid 3 3 3 q29 192490979 192505408 - 194075976 194090472 - 194355247 194369743 - 1580863;6480464;8554872 11785964;12477932;12923058;14702039;16098915;16641997;17643375;18385238;19056867;19615732;20020773 131578 B3KWI4;Q8TF66 AB071037;ABBA01001629;AC125362;AC174158;AK022342;AK125112;AMYH02008451;BC101064;BC101065;BK001325;BQ183882;CH471052;NM_001135057;NM_130830 AAI01065;AAI01066;BAB84587;BAG54146;DAA01740;EAW78054;NP_001128529;NP_570843;Q8TF66 Hs.288467 1335762;1644149;1657374;2123356 D3S240;RH66634;STS-AA010814;WI-9793 LIB;hLib OTTHUMP00000209124;OTTHUMP00000209125;leucine-rich repeat protein induced by beta amyloid;leucine-rich repeat protein induced by beta-amyloid;leucine-rich repeat protein induced by beta-amyloid homolog;leucine-rich repeat-containing protein 15 protein-coding ENSG00000172061 HGNC:20818 10058 VALIDATED 3418715 LRRC14B leucine rich repeat containing 14B ASSOCIATED WITH Melanoma (inferred) 5 5 5 p15.33 291236 295074 + 191626 195468 + 191511 195353 + 8554872 389257 A6NHZ5 ABBA01034263;AC021087;AMYH02010746;NM_001080478 A6NHZ5;AAI56516;AAI72511;NP_001073947 Hs.683662 OTTHUMP00000220418;leucine-rich repeat-containing protein 14-like;leucine-rich repeat-containing protein 14B protein-coding ENSG00000185028 HGNC:37268 PROVISIONAL 1352045 LRRC18 leucine rich repeat containing 18 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH hydrogen peroxide; 17alpha-ethynylestradiol (ortholog); cadmium dichloride (ortholog) 10 10 10 q11.23 43703127 43707879 - 50117528 50147980 - 48909483 48939935 - 6480464;8554872 12477932;12975309;15489334;15707978;16189514;17207965;17903303;19838193 474354 Q8N456 ABBA01047230;AC060234;AMYH02022981;AY358137;BC036722;CH471187;NM_001006939;XM_005269857;XM_005269858;XM_006717865;XM_006717866;XM_006717867;XM_006717868 AAH36722;AAQ88504;ADQ32476;EAW93123;NP_001006940;Q8N456;XP_005269914;XP_005269915;XP_006717928;XP_006717929;XP_006717930;XP_006717931 Hs.202438 MGC34773;UNQ933;UNQ9338;VKGE9338 OTTHUMP00000019568;leucine-rich repeat-containing protein 18 protein-coding ENSG00000165383 HGNC:23199 17450 VALIDATED 1312373 LRP6 low density lipoprotein receptor-related protein 6 This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009] 12 12 12 p13.2 17412009 17562835 - 12268959 12419811 - 12116025 12266877 - 1580863;2293188;2298725;2298724;4110127;6480464;6484113;6907045;7240710;8554872 12660824;18006602;18432252 10036184;11029007;11357136;11448771;11742004;12121999;12477932;12581525;12857724;12897152;14702039;14739301;15035989;15084453;15271658;15342556;15469977;15489334;15516984;15908424;16263759;16355283;16365045;16384981;16513652;16543246;16564009;16815997;16890161;16989816;17326769;17332414;17376403;17517621;17569865;17698587;17765217;17804805;18077588;18083125;18215320;18350154;18362152;18378904;18406176;18493104;18502762;18505732;18524778;18606139;18676680;18717822;18762581;18772438;18838381;18948618;18981475;19015224;19107203;19170196;19293931;19339249;19453261;19477926;19625176;19667113;19692168;19711366;19801552;19833493;19881541;19898734;19910923;19913121;20053636;20057906;20093360;20128690;20137080;20194742;20227366;20351274;20388731;20390408;20460648;20543981;20628086;20676368;20846389;20926594;20974802;21139048;21245321;21397183;21536646;21887268;21906983;21944579;21963094;21984209;22000855;22000856;22128165;22372892;22393312;22490400;22570728;22575959;22589387;22606268;22645275;22682247;22696217;22871567;22899650;22907437;23000965;23077088;23218566;23302227;23306204;23395167;23638027;23666756;23703864;23754096;23773994;23811937;23870195;23959799;23987510;24265322;24289859;24392029;24412065;24457908;24639526;24704686;8889549;9704021 4040 F5H0Z3;F5H7J9;H0YGH0;H0YGW5;O75581 AA126261;AB209683;ABBA01067829;ABBA01067830;AC007537;AC007621;AF074264;AF090131;AK074543;AK074902;AK094666;AK124760;AMYH02026050;AMYH02026051;AMYH02026052;AMYH02026053;AMYH02026054;AMYH02026055;BC029941;BC117136;BC126405;BC143725;BP229563;CH471094;JA738609;JC239720;KF455603;NG_016168;NM_002336;XM_006719078;XR_429034;XR_429035 AAC33006;AAD21410;AAI17137;AAI26406;AAI43726;BAD92920;BAG51971;BAG52027;CCF76957;CDM49020;EAW96253;NP_002327;O75581;XP_006719141 Hs.584775;Hs.658913 1660248;1669841;1685692;1701154;1853826;2167326;2217568;5491501;5492333 D12S1310;G41286;G41288;LRP6_4011;Lrp6;MARC_16075-16076:1041970786:1;RH104205;RH70320;RH80314 ADCAD2;FLJ90062;FLJ90421;LRP-6 OTTHUMP00000238979;OTTHUMP00000238980;OTTHUMP00000238982;low-density lipoprotein receptor-related protein 6 APPROVED protein-coding ENSG00000070018 HGNC:6698 04617 603507;610947 REVIEWED 1602483 LRRC20 leucine rich repeat containing 20 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH benzo[a]pyrene; copper atom; copper(0) 10 10 10 q22.1 65338800 65422388 - 72058726 72142406 - 70298970 70382650 - 6480464;8554872 12477932;12975309;14702039;15164054;15489334;16341674;16344560;16385451;17207965;20379614;20659327;21139048;21890473;23000965;23471985;24250222;24816145 55222 Q8TCA0;X6RK58 ABBA01019622;ABBA01019623;ABBA01019624;AC022532;AI703022;AK001613;AK001706;AK094734;AL122117;AL355138;AMYH02023286;AY358318;BC024001;BG771737;BM788766;CF552977;CH471083;DA032832;DA160782;DA386385;DA704994;DA775185;DA821329;NM_001278211;NM_001278212;NM_001278213;NM_001278214;NM_018205;NM_018239;NM_207119;NR_103467;NR_103468 AAH24001;AAQ88684;ADQ32781;BAA91789;BAA91849;BAC04409;EAW54388;EAW54389;EAW54390;EAW54391;EAW54392;EAW54393;EAW54394;EAW54395;EAW54396;EAW54397;NP_001265140;NP_001265141;NP_001265142;NP_001265143;NP_060675;NP_060709;NP_997002;Q8TCA0 Hs.7778 1341788;1646537;1766167;1772130;1858476;2123996 A001Z09;D10S1285E;D10S1436;D10S676;RH46509;SHGC-149545 FLJ10751;FLJ10844 OTTHUMP00000019750;OTTHUMP00000019751;OTTHUMP00000019752;OTTHUMP00000019753;OTTHUMP00000035622;leucine-rich repeat-containing protein 20 protein-coding ENSG00000172731 HGNC:23421 14314 VALIDATED 1345850 LRRC2-AS1 LRRC2 antisense RNA 1 INTERACTS WITH cobalt dichloride 3 3 3 p21.3 46537026 46537541 + 46598888 46601178 + 46557398 46559688 + 6480464 11896456;12461651 83598 Q9BQQ8 ABBA01024713;AC104304;AI954616;AJ312775;AMYH02006672;BX279889;CH471055;LK937709;NG_021214;NR_073385 CAC37400;EAW64772 Hs.570630 LUZP3;LUZP3P;LUZPP1 APPROVED ncrna ENSG00000268324 HGNC:15571 VALIDATED 1349280 LRRC16B leucine rich repeat containing 16B ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methoxyethanol (ortholog); 3,3',4,4',5-pentachlorobiphenyl (ortholog) 14 14 14 q11.2 4385685 4403416 + 24521206 24538937 + 24051997 24069728 + 6480464;8554872 10737800;12477932;15028280;16344560;19846667;21102520 90668 Q8ND23 ABBA01061330;AI017934;AI631690;AK074167;AL136295;AL834197;AMYH02028878;BC008134;BG913168;BG977591;BU102125;DA121863;DT932621;NM_138360 AAH08134;BAB84993;CAD38886;NP_612369;Q8ND23 Hs.26135 1713793;2144432;2174641 RH120783;SHGC-32365;STS-F02322 C14orf121;CARMIL3;crml-1 leucine-rich repeat-containing protein 16B protein-coding ENSG00000186648 HGNC:20272 11278 614716 VALIDATED 1350270 LRRC19 leucine rich repeat containing 19 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol (ortholog); choline (ortholog); flutamide (ortholog) 9 9 9 p21.2 26921285 26933841 - 26993134 27005691 - 26993136 27005693 - 1580863;6480464 12477932;14702039;15489334;19679103;8125298 64922 Q53GE4;Q9H756 ABBA01065135;AK024955;AK025070;AK222987;AL355432;AMYH02019343;AMYH02019344;BC056252;BC126156;BC136298;BF431646;CH471071;NM_022901 AAI26157;AAI36299;ADR82971;BAB15042;BAD96707;EAW58574;NP_075052;Q9H756 Hs.128071 5022578 D1S1423 FLJ21302 OTTHUMP00000021165;leucine-rich repeat-containing protein 19 protein-coding ENSG00000184434 HGNC:23379 14313 VALIDATED 1605162 LRRC24 leucine rich repeat containing 24 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); C60 fullerene (ortholog); choline (ortholog) 8 8 8 q24.3 141923441 141928096 - 145747761 145752416 - 144522377 144527032 - 6480464;8554872 12477932;15489334;22082156;24250222;7584026;8889548 441381 G3V1D8;Q50LG9 AB178281;ABBA01005200;AC084125;AMYH02019009;BC111067;BQ185133;CH471162;NG_033083;NM_001024678 AAI11068;BAD97811;EAW82065;NP_001019849;Q50LG9 Hs.740859 1648009;2118336;2124514 RH11522;RH25253;SGC30393 LRRC14OS;MGC111484 OTTHUMP00000228794;OTTHUMP00000228795;leucine-rich repeat-containing protein 24 protein-coding ENSG00000254402 HGNC:28947 18651 VALIDATED 1315346 LRRC16A leucine rich repeat containing 16A ENCODES a protein that exhibits protein complex binding; INVOLVED IN cell migration; lamellipodium assembly; positive regulation of cell migration; FOUND IN cytoplasm; extracellular vesicular exosome; lamellipodium; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 6 6 6 p22.2 26506841 26847962 + 25279656 25620758 + 25279428 25620530 + 6480464 10737800;12477932;15146197;15302935;16054028;16712791;17370265;18029348;19084217;19199708;19460752;19503597;19531213;19846667;19861489;19890391;20162742;20162743;20360068;20379614;20800603;21890473;22118674;22139419;22411988;22423221;22939629;23904264;24318514;25015289;8125298 55604 Q5VZK9;Q8IW66 ABBA01066544;ABBA01066545;ABBA01066546;ABBA01066547;ABBA01066548;AI142012;AK000055;AK123817;AK125696;AK225208;AL022170;AL024509;AL160037;AMYH02013338;AMYH02013339;AMYH02013340;AMYH02013341;BC040903;BC140770;BE765272;BF330246;BG978388;BQ423885;CB132825;CD691491;CN283219;CV330537;FJ009082;KF458124;KF458126;NM_001173977;NM_017640;XM_005249218;XM_006715136;XM_006715137;XM_006715138;XM_006715139;XM_006715140;Y10210;Y10508;Y10514;Y10518;Y10519;Z83935;Z83950 AAH40903;AAI40771;AAI72272;AAI72573;ACI49709;BAA90912;BAC85701;BAC86250;NP_001167448;NP_060110;Q5VZK9;XP_005249275;XP_006715199;XP_006715200;XP_006715201;XP_006715202;XP_006715203 Hs.649550 1337397;1337992;1654359;1659181;1667509;1683201;1754257;1765231;1788818;1788864;1788908;1788910;1847836;1847838;1852734;2122723;2138519;2158105;2160675;2184683;2189687;2189695 A008W31;D6S1281;D6S1621;D6S1964;D6S2233;D6S2234;D6S2294;D6S2295;G31035;G67624;G67625;G67626;G67635;RH17549;RH37444;RH46745;RH98607;SHGC-132275;SHGC-148722;SHGC-35058;SHGC-53482;SHGC-53569 CARMIL1;CARMIL1a;FLJ20048;FLJ43708;LRRC16;dJ501N12.1;dJ501N12.5 CARMIL;CARMIL homolog;OTTHUMP00000016106;capping protein, Arp2/3, and Myosin-I Linker homolog 1;leucine rich repeat containing 16;leucine-rich repeat-containing protein 16A protein-coding ENSG00000079691 HGNC:21581 11285 609593 VALIDATED 1344845 LRRC17 leucine rich repeat containing 17 INVOLVED IN bone marrow development (ortholog); negative regulation of osteoclast differentiation (ortholog); FOUND IN extracellular space (ortholog); INTERACTS WITH 1-nitropyrene; 17beta-estradiol; 2-methylcholine 7 7 7 q22.1 97360514 97393405 + 102553344 102585558 + 102912897 102945111 + 6480464 12477932;12853948;12975309;15489334;16344560;19336404;8125298;8982252 10234 C9JT74;Q8N6Y2 ABBA01057996;AC005250;AC073127;AI961444;AK225701;AK226021;AK290305;AMYH02016446;AMYH02016447;AY358889;BC027903;CH471070;DA749917;NM_001031692;NM_005824;U32907;XM_005250108 AAB41565;AAH27903;AAQ89248;AAS07483;ACE86884;ACE87571;BAF82994;EAW83307;EAW83308;NP_001026862;NP_005815;Q8N6Y2;XP_005250165 Hs.567412 1656518;2107283;2145387 G30989;G31044;LRRC17__6427 P37NB 37 kDa leucine-rich repeat (LRR) protein;OTTHUMP00000211713;OTTHUMP00000211714;leucine-rich repeat-containing protein 17 protein-coding ENSG00000128606 HGNC:16895 10059 VALIDATED 1604054 LRRC23 leucine rich repeat containing 23 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; atrazine 12 12 12 p13 8632507 8642019 + 7013897 7023406 + 6904733 6914242 + 6480464 12477932;15489334;16030496;16341674;16344560;16712791;1847722;8125298;8723724;8889548;9074930 10233 A8K8K2;C9JEW3;C9JKE8;C9JQN5;E9PDZ4;F2Z299;Q53EV4 ABBA01017666;AI524335;AK223535;AK292291;AK292367;AMYH02025957;AY834277;BC011980;BC014450;BC029858;BM714841;BM822373;CA444672;CB140563;CH471116;DB027456;NM_001135217;NM_006992;NM_201650;U47924;U72508;U72509;U72510 AAB51319;AAC51638;AAH29858;AAV97885;ABM82277;ABW03381;BAD97255;BAF84980;BAF85056;EAW88712;EAW88713;EAW88714;EAW88715;EAW88716;NP_001128689;NP_008923;NP_964013;Q53EV4 Hs.155586;Hs.661103 1683821;2133406;2144775 RH71256;RH99235;STS-U72508 B7;LRPB7 OTTHUMP00000210370;OTTHUMP00000210371;OTTHUMP00000210372;OTTHUMP00000210377;OTTHUMP00000210378;OTTHUMP00000210379;leucine-rich protein B7;leucine-rich repeat-containing protein 23 protein-coding ENSG00000010626 HGNC:19138 09818 VALIDATED 1603823 LRRC26 leucine rich repeat containing 26 ENCODES a protein that exhibits potassium channel regulator activity; INVOLVED IN ion transport (inferred); FOUND IN extracellular vesicular exosome; voltage-gated potassium channel complex; INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; apigenin (ortholog) 9 9 9 q34.3 110577036 110578146 - 140063210 140064491 - 137168758 137170039 - 6480464 12477932;16585525;16712791;19199708;19250639;20613726;21822313;24639523 389816 Q2I0M4 ABBA01022747;AL929554;AMYH02021925;BC140911;CB160046;DN996987;DQ355157;NG_011507;NM_001013653 AAI40912;ABC79623;NP_001013675;Q2I0M4 Hs.669977 CAPC;bA350O14.10 BK channel auxiliary gamma subunit LRRC26;BK channel auxilliary gamma subunit LRRC26;OTTHUMP00000022690;cytokeratin associated protein;cytokeratin-associated protein;cytokeratin-associated protein in cancer;leucine-rich repeat-containing protein 26 protein-coding ENSG00000184709 HGNC:31409 18397 613505 VALIDATED 1352396 LRRC25 leucine rich repeat containing 25 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; beta-naphthoflavone 19 19 19 p13.11 18403783 18410244 - 18501947 18508428 - 18391137 18397618 - 737633;1580863;6480464 12477932 12384430;12975309;14702039;17207965;21044950 126364 Q8N386;Q8TAB8 ABBA01051260;AC008397;AJ422148;AK095435;AMYH02035732;AY358151;BC025744;BC033825;BC053659;BC071640;BC093842;BI910095;CH471106;NM_145256;XM_005259739 AAH25744;AAH53659;AAH71640;AAH93842;AAQ88518;ABM81850;ADQ31930;BAC04548;CAD19531;EAW84695;EAW84696;NP_660299;Q8N386;XP_005259796 Hs.332156 5015861;7185938 D10S16 FLJ38116;MAPA leucine-rich repeat-containing protein 25;monocyte and plasmacytoid activated molecule;monocyte and plasmacytoid-activated protein protein-coding ENSG00000175489 HGNC:29806 09597 607518 VALIDATED 1318562 LRRC27 leucine rich repeat containing 27 INTERACTS WITH 17beta-estradiol; valproic acid; 17alpha-ethynylestradiol (ortholog) 10 10 10 q26.3 127790642 127841583 + 134145614 134195010 + 132332110 132381506 + 6480464 11214970;12477932;14702039;15164054;15489334;16344560;24250222 80313 B3KUK5;B4DJ72;B4DW88;H0Y4N5;Q9C0I9 AB051461;ABBA01006179;AK091472;AK093250;AK097418;AK098652;AK295953;AK301422;AL096806;AL512722;AL590105;AMYH02024070;BC029902;BC050097;BC058159;BQ775276;BX117491;CH471066;DA203895;DA658738;DC352688;NM_001143757;NM_001143758;NM_001143759;NM_030626;NR_026559;XM_006717983;XM_006717984;XM_006717985;XM_006717986;XR_428717;XR_428718;XR_428719 AAH50097;BAB21765;BAC04108;BAC05366;BAG53467;BAG58734;BAG62950;EAW49121;EAW49122;EAW49123;EAW49124;NP_001137229;NP_001137230;NP_001137231;NP_085129;Q9C0I9;XP_006718046;XP_006718047;XP_006718048;XP_006718049 Hs.119897 1701374;5015619;5015861;5021872;5037552;5109281;7185938 D10S16;D11S3114;D1S1425;D8S2279;RH104317;sY3084 OTTHUMP00000020759;OTTHUMP00000020760;OTTHUMP00000020761;OTTHUMP00000020762;leucine-rich repeat-containing protein 27 protein-coding ENSG00000148814 HGNC:29346 17451 VALIDATED 1353942 LRRC29 leucine rich repeat containing 29 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51749274 51769135 - 67241042 67260901 - 67207139 67226998 - 6480464;8554872 10531037;12477932;14702039;15489334 26231 C9JPW1;C9JSY0;C9K0K3;Q8WV35 ABBA01025432;AC040160;AF176701;AK096101;AK298088;AK316602;AMYH02032227;BC018785;BI085522;CH471092;NM_001004055;NM_012163 AAF03701;AAH18785;ABM82922;ABM86112;BAG38189;BAG53213;BAG60374;EAW83099;EAW83100;EAW83101;EAW83102;EAW83103;EAW83104;NP_001004055;NP_036295;Q8WV35 Hs.461000 2109483;2140909;2165686 LRRC29_9474;RH48583;RH78539 FBL9;FBXL9 F-box and leucine-rich repeat protein 9;F-box protein FBL9;F-box/LRR-repeat protein 9;OTTHUMP00000205610;OTTHUMP00000205611;OTTHUMP00000205612;OTTHUMP00000205613;OTTHUMP00000205614;leucine-rich repeat-containing protein 29 APPROVED protein-coding ENSG00000125122 HGNC:13605 14317 REVIEWED 1323318 LRRC2 leucine rich repeat containing 2 This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011] 3 3 3 p21.31 46494616 46545734 - 46556875 46621589 - 46515386 46566550 - 6480464 11896456;12461651;12477932;14702039;15489334;16344560;16432833;20379614;20420713;20616063;21606681;22082156;8125298 79442 Q53F49;Q9BYS8 ABBA01024713;AC098613;AC104304;AJ308569;AK057808;AK223440;AK314658;AK315636;AMYH02006671;AMYH02006672;AX063232;BC029118;BP420656;CH471055;DA144445;DA342323;NG_021214;NM_024512;XM_006713332 AAH29118;BAB71585;BAD97160;BAG37217;BAG38004;CAC25077;CAC33442;EAW64769;EAW64770;EAW64771;NP_078788;Q9BYS8;XP_006713395 Hs.657345 1854771;2110491;5015404;5015861;5022450;5037552;7185938 D10S16;D10S275;D8S2279;L17705;LRRC2__6428;WI-15076 OTTHUMP00000164712;OTTHUMP00000209906;leucine-rich repeat-containing protein 2 APPROVED protein-coding ENSG00000163827 HGNC:14676 06213 607180 REVIEWED 5686930 LRRC3-AS1 LRRC3 antisense RNA 1 (head to head) 21 21 q22.3 45870869 45875167 - 44450986 44455284 - 8889548 100861510 AA725743;ABBA01074168;AMYH02037914;AP001065;BM664107;BM703952;HG511896;NR_047476 Hs.505254 AP001065.3 APPROVED ncrna ENSG00000229356 HGNC:43636 VALIDATED 1346329 LRRC31 leucine rich repeat containing 31 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 3 3 3 q26.2 167956313 167987206 - 169557029 169587723 - 169839241 169869935 - 6480464;8554872 12477932;12975309;14702039;15489334;16344560 79782 Q6UY01 ABBA01058701;ABBA01058702;ABBA01058703;AC078795;AK026912;AK097338;AMYH02008102;AMYH02008103;AY358138;BC117401;BC143569;BC143582;CH471052;DA425899;DA967755;EU668335;KF457714;NM_001277127;NM_001277128;NM_024727 AAI17402;AAI43570;AAQ88505;ACF94488;ADR83061;BAB15589;BAC05004;EAW78535;NP_001264056;NP_001264057;NP_079003;Q6UY01 Hs.411295 1773820;2182991 B317ZB9;SHGC-77516 FLJ23259;FLJ40019;HEL-S-293 OTTHUMP00000226663;OTTHUMP00000226664;OTTHUMP00000226665;epididymis secretory protein Li 293;leucine-rich repeat-containing protein 31 protein-coding ENSG00000114248 HGNC:26261 08023 VALIDATED 1604227 LRRC34 leucine rich repeat containing 34 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; cadmium atom; copper atom 3 3 3 q26.2 167909695 167929051 - 169511216 169530574 - 169793428 169812789 - 6480464;8554872 12477932;14702039;15489334;20379614;23583980;23900074;24163127;8889548 151827 B4DHF2;G3V115;H0YEZ4;Q8IZ02 ABBA01058704;AC078795;AK095125;AK130856;AK293661;AK295065;AK302466;AMYH02008100;BC028610;BC032841;BC040162;CH471052;CN479293;DB500348;NM_001172779;NM_001172780;NM_153353;XM_005247133;XM_006713508 AAH32841;BAG52989;BAG57108;BAG58113;BAG63756;EAW78537;EAW78538;EAW78539;EAW78540;EAW78541;EAW78542;NP_001166250;NP_001166251;NP_699184;Q8IZ02;XP_005247190;XP_006713571 Hs.591289 1648583;1675947;1700226;2184753;5022578 D1S1423;RH103730;RH47355;RH91874;STS-D59623 FLJ27346;MGC27085 OTTHUMP00000226659;OTTHUMP00000226660;OTTHUMP00000226661;leucine-rich repeat-containing protein 34 protein-coding ENSG00000171757 HGNC:28408 14519 VALIDATED 8549323 LRRC34P2 leucine rich repeat containing 34 pseudogene 2 4 4 4 53681166 53682058 - 56179199 56180091 - 55313032 55313924 - 100420613 ABBA01003411;AC064824;AMYH02009240;NG_025106 pseudo HGNC:49888 INFERRED 8549355 LRRC34P1 leucine rich repeat containing 34 pseudogene 1 12 12 12 p12.1 27874751 27875860 + 22726930 22728039 + 22573996 22575105 + 100288378 ABBA01067986;AC053513;AMYH02026180;NG_021708 pseudo HGNC:49887 INFERRED 732363 LRRC3 leucine rich repeat containing 3 FOUND IN integral component of membrane (inferred); INTERACTS WITH ammonium chloride (ortholog); benzo[a]pyrene (ortholog); C60 fullerene (ortholog) 21 21 21 q22.3 30983450 30986796 + 45875393 45878739 + 44455510 44458856 + 6480464 12036297;12477932;12975309;15489334;17474147;21906983 81543 Q6ZSA1;Q9BY71 AB058646;ABBA01074166;ABBA01074167;ABBA01074168;ABBA01074169;AK127604;AMYH02037914;AP001065;AY061857;AY358120;BC064321;BC119648;BC119649;CH471079;NM_030891 AAI19649;AAI19650;AAL35741;AAQ88487;BAB40229;BAC87053;EAX09425;NP_112153;Q9BY71 Hs.326579 1659194;1784450;1790613;5020885;5037552;5492151 D8S2279;L17791;SHGC-154943;SHGC-87688;STS_CEB245;Trpm2 C21orf102 OTTHUMP00000038507;leucine-rich repeat-containing 3;leucine-rich repeat-containing protein 3 protein-coding HGNC:14965 11286 VALIDATED 1316267 LRRC28 leucine rich repeat containing 28 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-hydroxy-5alpha-androstan-3-one; 5-aza-2'-deoxycytidine 15 15 15 q26.3 76210623 76345463 + 99791567 99930934 + 99251362 99390729 + 737633;6480464;8554872 12477932 12975309;14702039;15489334;16344560;17207965;21139048;21906983;8889548 123355 B4DEX4;B4DHL3;B4DK22;H0YK92;H0YKF6;H0YKM4;H0YKS9;H0YLR7;H0YM55;H0YM85;H0YNW4;Q86X40;Q8NB41;Q8WUS2 ABBA01020554;ABBA01020555;ABBA01020556;AC022819;AC037479;AK091588;AK127177;AK292887;AK293832;AK295161;AK296352;AMYH02031152;AMYH02031153;AY358082;BC019704;BC047306;BM681658;CH471101;DA787321;NM_001284400;NM_144598;XM_005254861;XM_006720388;XM_006720389;XM_006720390;XM_006720391;XR_429443 AAH19704;AAH47306;AAQ88449;ADQ33047;BAC03702;BAC86870;BAF85576;BAG57235;BAG58175;BAG59034;EAX02240;EAX02241;EAX02242;EAX02243;EAX02244;NP_001271329;NP_653199;Q86X40;XP_005254918;XP_006720451;XP_006720452;XP_006720453;XP_006720454 Hs.578684 1670287;1680727;1682075;1774769;1790367;1853513;2144693;2191525 Bdyc7c01;G09713;MARC_26038-26039:1032450563:1;RH67937;RH98641;STS-AA009801;STS-H99801;TRA1 FLJ34269;FLJ45242;MGC24976 OTTHUMP00000194790;leucine-rich repeat-containing protein 28 protein-coding ENSG00000168904 HGNC:28355 14316 VALIDATED 1343727 LRRC30 leucine rich repeat containing 30 INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl (ortholog) 18 18 18 p11.23 7116420 7117325 + 7231137 7232042 + 7231139 7232044 + 6480464 339291 A6NM36 ABBA01049911;AMYH02034265;AP005270;NM_001105581 A6NM36;NP_001099051 Hs.647588 1709240 SHGC-85808 leucine-rich repeat-containing protein 30 protein-coding ENSG00000206422 HGNC:30219 PROVISIONAL 1319230 LRRC32 leucine rich repeat containing 32 This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008] 11 11 11 q13.5-q14 73676360 73689583 - 76368568 76381990 - 76657524 76670946 - 1580863;6480464;8554872 10737800;12477932;12800150;1543912;15489334;16344560;17192395;18628982;19453521;19651619;19666573;19750484;20237496;21615933;21907864;22036096;22070912;22278742;23650616;23817569;23817571;23886662;24098777;8180135;8840187 2615 C9JYU3;Q14392 ABBA01017449;AK314971;AMYH02025129;AP001189;BC052210;BC070079;BI010671;CA775494;CH471076;DA591993;FB570994;KF455417;NM_001128922;NM_005512;XM_005273902;XM_005273903;XR_428911;Z24680 AAH52210;AAH70079;CAA80847;CAR94995;EAW75001;EAW75002;NP_001122394;NP_005503;Q14392;XP_005273959;XP_005273960 Hs.151641 1677404;1731311;1769707;2148279;2150634;2185563 D11S356;D11S4584;D11S787;GARP;SGC30829;WI-19833 D11S833E;GARP OTTHUMP00000165067;OTTHUMP00000165068;OTTHUMP00000200860;garpin;glycoprotein A repetitions predominant;leucine-rich repeat-containing protein 32 APPROVED protein-coding ENSG00000137507 HGNC:4161 00667 137207 REVIEWED 6480588 LRRC37A10P leucine rich repeat containing 37, member A10, pseudogene 17 17 42000143 42003711 - 43922775 43926343 - 100533791 ABBA01028395;AC007993;AMYH02033466;NG_028733 pseudo HGNC:43814 INFERRED 6480580 LRRC37A16P leucine rich repeat containing 37, member A16, pseudogene 17 17 17 q24.2 62693493 62719949 - 66122557 66149006 - 68126416 68152865 - 12477932;14702039;16344560 651250 ABBA01028966;AC005332;AMYH02033869;NG_023507 1656315;1783490;2130895 RH47730;RH78289;SHGC-144152 pseudo HGNC:43820 INFERRED 7244109 LRRC37A17P leucine rich repeat containing 37, member A17, pseudogene 17 17 17 q21.32 41544051 41584037 + 45094556 45131778 + 47017190 47054412 + 644397 ABBA01041111;ABBA01041112;ABBA01041113;ABBA01041114;ABBA01041115;AC005670;AC068152;AMYH02033515;NG_028735 1774779 D17S1689 pseudo HGNC:48365 INFERRED 1602023 LRRC37A2 leucine rich repeat containing 37, member A2 FOUND IN integral component of membrane (inferred); INTERACTS WITH cadmium atom; ammonium chloride (ortholog); indole-3-methanol (ortholog) 17 17 17 q21.31 715 2887 - 44587323 44633016 + 46512710 46555648 + 6480464 12477932;14702039;16625196;22419166;23064749 474170 A6NM11;Q5YKG5 AC138645;AC138688;AC217769;AC217778;AC243627;AC243899;AK091733;AK126994;AW149940;AY386262;BC088375;BC144427;BC144428;BQ649697;JQ790563;JQ790564;JQ790568;JQ790570;JQ790571;JQ790576;JQ790584;JQ790590;JQ790591;JQ790595;JQ790598;JQ790606;JQ790610;JQ790617;JQ790626;JQ790628;JQ790636;JQ790641;JQ790662;JQ790663;JQ790665;JQ790675;JQ790677;JQ790700;JQ790703;JQ790710;JQ790718;JQ790723;JQ790735;JQ790739;JQ790740;JQ790748;JQ790750;JQ790764;NM_001006607 A6NM11;AAI44428;AAI44429;AAI72235;AAI72554;AAR28083;BAG52406;NP_001006608 Hs.646568;Hs.744157;Hs.744758 2151297;5015861;5016781;7185938 D10S16;SHGC-67307;STS-AA029927 FLJ45049;LRRC37 c114 SLIT-like testicular protein;leucine-rich repeat-containing protein 37A2 protein-coding ENSG00000238083 HGNC:32404 14227 VALIDATED 1602879 LRRC37A4P leucine rich repeat containing 37, member A4, pseudogene INTERACTS WITH copper(2+) sulfate; valproic acid 17 17 q21.31 43583249 43597889 - 45505883 45520523 - 6480464 12477932;14702039 55073 Q32Q44 ABBA01003970;AC091132;AC139677;AC217775;AC225613;AC244161;AC244163;AC244207;AK000982;BC041653;BC088374;BC107850;NR_002940;XR_430756;XR_430757;XR_430758;XR_430759;XR_430760;XR_430761;XR_430762;XR_430763;XR_430764;XR_430765;XR_430766;XR_430767;XR_430768;XR_430769;XR_430770;XR_430771;XR_430772;XR_430773;XR_430774;XR_430775 AAI07851;BAA91454 Hs.596756 5126386 SHGC-34684 FLJ10120;KIAA0563;LRRC37A4;MGC111480 APPROVED pseudo HGNC:25479 07646 VALIDATED 1605801 LRRC37A3 leucine rich repeat containing 37, member A3 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 17 17 17 q24.1 57323675 57323949 - 62850486 62914903 - 64854370 64918785 - 6480464;8554872 12477932;14702039;15489334;23064749;9628581 374819 B4DSF2;F8W7X0;J3KT91;J3KT96;J3QKQ2;J3QL27;J3QTJ5;O60309 AB011135;ABBA01041109;ABBA01041110;ABBA01041111;ABBA01041112;ABBA01041113;ABBA01041114;ABBA01041115;AC103810;AK091625;AK294371;AK299714;AK308554;AK315945;AMYH02033799;AMYH02033800;BC043145;BC048966;BC113643;BC117274;JQ790599;JQ790603;JQ790607;JQ790608;JQ790612;JQ790613;JQ790632;JQ790633;JQ790634;JQ790635;JQ790639;JQ790640;JQ790667;JQ790668;JQ790670;JQ790671;JQ790673;JQ790676;JQ790678;JQ790680;JQ790704;JQ790705;JQ790706;JQ790709;JQ790712;JQ790713;JQ790717;JQ790722;JQ790728;JQ790731;JQ790733;JQ790734;JQ790737;JQ790747;JQ790751;JQ790753;JQ790759;JQ790760;JQ790761;JQ790762;JQ790765;JQ790766;JQ790767;NM_199340 AAH43145;AAI13644;AAI17275;BAA25489;BAC03710;BAG57631;BAG61614;BAH14316;NP_955372;O60309 Hs.551962;Hs.744157;Hs.744758 1851494;5020881 L17709;SHGC-57505 FLJ34306;KIAA0563;LRRC37;LRRC37A;MGC41826;MGC57168 leucine-rich repeat-containing protein 37A3 protein-coding ENSG00000176809 HGNC:32427 PROVISIONAL 1606382 LRRC37A6P leucine rich repeat containing 37, member A6, pseudogene 10 10 10 p12.1 27251213 27257666 - 27534782 27541235 - 27245853 27252306 - 6480464 387646 Q6ZT63 ABBA01034394;AK126872;AL160291;AMYH02022510;CH471072;KF459738;NR_003525 BAC86731;EAW86057 Hs.631829 1675810 RH98463 FLJ44924 APPROVED pseudo ENSG00000230445 HGNC:33746 17363 PROVISIONAL 6480403 LRRC37A7P leucine rich repeat containing 37, member A7, pseudogene 18 18 18 26111300 26112759 + 29304190 29305649 + 31724227 31725686 + 100421589 ABBA01022507;AC017100;AMYH02034513;NG_026286 pseudo HGNC:43792 INFERRED 6480587 LRRC37A8P leucine rich repeat containing 37, member A8, pseudogene 17 17 q12 34233644 34238024 - 35906640 35911020 - 14702039 100533789 Q6ZRG5 ABBA01011241;AC015849;AC244100;AK125932;AK128235;AL833376;NR_126038 Q6ZRG5 Hs.167595;Hs.732260 pseudo HGNC:43793 VALIDATED 6480586 LRRC37A9P leucine rich repeat containing 37, member A9, pseudogene 17 17 34238576 34241846 - 35911572 35914842 - 100533790 ABBA01011241;AC015849;AC244100;NG_028732 pseudo HGNC:43813 INFERRED 1606474 LRRC37B leucine rich repeat containing 37B ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 2-methylcholine; aflatoxin B1; copper(2+) sulfate 17 17 17 27268007 27296802 + 30348155 30380519 + 32021136 32053500 + 6480464;8554872 10843809;11468690;12477932;15236313;16625196;17632510;18029348;19291764;19322201;20881960;21906983;23064749;8889548 114659 F5H5K1;J3KTP0;J3QKM3;J3QL10;J3QLE7;J3QLI7;J3QSU1;Q96QE4 ABBA01014939;ABBA01014940;ABBA01014941;AC090616;AJ314647;AK299772;AK302740;AK310287;AMYH02033308;AMYH02033309;AY386261;BC117373;BC143578;BC143581;BF979626;BM718301;JQ790561;JQ790565;JQ790567;JQ790569;JQ790582;JQ790583;JQ790601;JQ790602;JQ790604;JQ790615;JQ790616;JQ790618;JQ790619;JQ790620;JQ790621;JQ790622;JQ790623;JQ790627;JQ790672;JQ790679;JQ790687;JQ790695;JQ790697;JQ790707;JQ790746;JQ790754;NM_052888 AAI17374;AAI43582;AAR28082;ADR83284;BAG61655;BAG63955;CAC44536;NP_443120;Q96QE4 Hs.514071;Hs.744157 1643776;1662179;1687972;5023455;5123733 A005R32;G20446;RH65739;RH91783;WI-12393 LRRC37 C66 SLIT-like testicular protein;OTTHUMP00000163674;leucine-rich repeat-containing protein 37B protein-coding ENSG00000185158 HGNC:29070 14004 VALIDATED 1602439 LRRC38 leucine rich repeat containing 38 INVOLVED IN ion transport (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred) 1 1 1 p36.21 12283571 12322369 - 13801445 13840242 - 13474977 13513781 - 12477932 126755 Q5VT99 ABBA01017212;ABBA01017213;ABBA01017214;AC243961;AL354712;AL603749;AMYH02000324;BC016048;CH471167;NM_001010847;XM_006710336 AAH16048;EAW51689;NP_001010847;Q5VT99;XP_006710399 Hs.657356 1666326 D1S2028E RP4-597A16.1 BK channel auxiliary gamma subunit LRRC38;BK channel auxilliary gamma subunit LRRC38;OTTHUMP00000009643;leucine-rich repeat-containing protein 38 protein-coding ENSG00000162494 HGNC:27005 615212 VALIDATED 1605363 LRRC36 leucine rich repeat containing 36 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); potassium dichromate (ortholog); progesterone (ortholog) 16 16 16 q22.1 51869004 51927309 + 67360747 67419109 + 67326844 67385206 + 6480464;8554872 12477932;14702039;15342556 55282 B7Z4G3;B7Z7B3;H3BND7;H3BNV0;H3BQI9;H3BRB2;H3BRP7;H3BS33;H3BSQ6;J3QRT0;J3QSG3;Q1X8D7;Q9NV11 ABBA01025434;ABBA01025435;AC009061;AK001866;AK292311;AK297329;AK301766;AK309897;AK311487;AMYH02032230;AMYH02032231;AY313780;AY963267;BC018031;BC026156;BP294008;CH471092;NM_001161575;NM_018296;XM_005256025;XM_005256026;XM_005256027;XM_005256028;XR_243416;XR_429723 AAH26156;AAP81011;AAY46032;BAA91949;BAF85000;BAH12549;BAH13549;EAW83125;EAW83126;EAW83127;NP_001155047;NP_060766;Q1X8D7;XP_005256082;XP_005256083;XP_005256084;XP_005256085 Hs.125139 2138637;5022651;5109281 D11S2921;D1S1425;STS-AA024526 FLJ11004;RORBP70;XLHSRF2 ROR gamma binding protein 70;ROR gamma-binding protein 70;heat shock regulated 2;leucine-rich repeat-containing protein 36 protein-coding ENSG00000159708 HGNC:25615 08558 VALIDATED 4108078 LRRC37A5P leucine rich repeat containing 37, member A5, pseudogene 9 9 9 q31.3 84864182 84874904 - 114365111 114375833 - 111602831 111613553 - 12477932;15164053;15489334 652972 Q49AS3 ABBA01042728;AL135787;AMYH02021478;BC031236;NR_034087 AAH31236;Q49AS3 Hs.551134 C9orf29;MGC39589 APPROVED ncrna ENSG00000204173 HGNC:23369 VALIDATED 1606975 LRRC39 leucine rich repeat containing 39 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); dibutyl phthalate (ortholog) 1 1 1 p21.2 98871291 98900621 - 100614004 100643829 - 100148448 100178273 - 6480464;8554872 11076863;12477932;12975309;14702039;15489334;15489336;16381901;16710414;20379614;20847312 127495 Q96DD0 ABBA01045445;AK096892;AL445928;AL711357;AL833417;AMYH02001554;AW961910;AY358131;BC009613;BC022420;BX645870;CH471097;DB449006;N70864;NM_001256385;NM_001256386;NM_001256387;NM_144620;XM_005270459 AAH09613;AAQ88498;ABM84416;ABM87433;BAG53394;CAL37579;CAL37984;EAW72965;EAW72966;EAW72967;EAW72968;EAW72969;NP_001243314;NP_001243315;NP_001243316;NP_653221;Q96DD0;XP_005270516 Hs.44277;Hs.729095 1671101;1679692;1767493;1854972;2122479;2161654 RH26808;RH69486;SHGC-31027;SHGC-34523;SHGC-75218;SHGC-75223 DKFZp313O1122;MGC14816 OTTHUMP00000012531;OTTHUMP00000012587;densin hlg;leucine-rich repeat-containing protein 39 protein-coding ENSG00000122477 HGNC:28228 17501 VALIDATED 1605100 LRRC37A leucine rich repeat containing 37A FOUND IN integral component of membrane (inferred); INTERACTS WITH ammonium chloride (ortholog); indole-3-methanol (ortholog); methamphetamine (ortholog) 17 17 17 q21.31 41544100 41585544 + 44316744 44415160 + 46239370 46337794 + 6480464 12477932;14702039;15489334;15533724;16344560;22419166;22952603;23064749;9628581 9884 A6NMS7;A8MUI5;E9PP10 ABBA01008166;ABBA01008167;AC005829;AC127032;AC138688;AC139026;AC217777;BC040501;CR749232;DA397530;JQ790562;JQ790566;JQ790572;JQ790577;JQ790578;JQ790579;JQ790580;JQ790581;JQ790593;JQ790594;JQ790596;JQ790637;JQ790642;JQ790664;JQ790688;JQ790690;JQ790691;JQ790692;JQ790693;JQ790694;JQ790699;JQ790715;JQ790716;JQ790720;JQ790724;JQ790725;JQ790726;JQ790727;JQ790729;JQ790730;JQ790732;JQ790738;JQ790743;JQ790744;JQ790749;JQ790755;JQ790756;JQ790757;JQ790758;JQ790763;NM_014834;XM_005257878;XM_005257879;XM_005257880;XM_005257882;XM_005257883;XM_005257884;XM_005257887;XM_005275659;XM_005275660;XM_005275662;XM_005275664;XM_005275665;XM_005275667;XM_005275669;XM_006722208;XM_006722209;XM_006722210;XM_006722211;XM_006722212;XM_006722213;XM_006725279;XM_006725280;XM_006725281;XM_006725282;XM_006725283 A6NMS7;AAH40501;CAH18088;NP_055649;XP_005257935;XP_005257936;XP_005257937;XP_005257939;XP_005257940;XP_005257941;XP_005257944;XP_005275716;XP_005275717;XP_005275719;XP_005275721;XP_005275722;XP_005275724;XP_005275726;XP_006722271;XP_006722272;XP_006722273;XP_006722274;XP_006722275;XP_006722276;XP_006725342;XP_006725343;XP_006725344;XP_006725345;XP_006725346 Hs.579108;Hs.744157;Hs.744758 2151297 STS-AA029927 DKFZp686N1231;KIAA0563;LRRC37 OTTHUMP00000194770;OTTHUMP00000194771;OTTHUMP00000233379;leucine-rich repeat-containing protein 37A protein-coding ENSG00000176681 HGNC:29069 14303 VALIDATED 5131999 LRRC3C leucine rich repeat containing 3C FOUND IN integral component of membrane (inferred) 17 17 17 q12-q21.1 34757993 34761247 + 38097727 38100987 + 39941474 39944734 + 11181995;16625196;19820697 100505591 A6NJW4 ABBA01031852;AC090844;AMYH02033389;CH471152;DY655553;NM_001195545 A6NJW4;EAW60623;NP_001182474 Hs.145136 leucine-rich repeat-containing protein 3C;putative LRRC3-like protein ENSP00000367157 protein-coding ENSG00000204913 HGNC:40034 VALIDATED 1351394 LRRC3DN LRRC3 downstream neighbor (non-protein coding) FOUND IN nucleus 21 21 21 q22.3 30987877 30990136 + 45878827 45882079 + 44458944 44462196 + 6480464 10830953;16780588;19710015;20494980 54083 Q9UFM2 AL117578;AMYH02037914;AP001065;CH471079;XR_109680;XR_172352 CAB56001;EAX09424;Q9UFM2 Hs.542533 C21orf30;DKFZP434C128 APPROVED ncrna HGNC:1270 MODEL 1345434 LRRC3B leucine rich repeat containing 3B ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; trichostatin A 3 3 3 p24 26600894 26688865 + 26664300 26752267 + 26622809 26710776 + 6480464;8554872 11076863;12477932;12975309;15489334;15489336;16381901;18377727;18757430;18815942;19240061;22101383;22321817;22889411 116135 C9J6A1;C9JMC7;Q96PB8 ABBA01025006;ABBA01025007;ABBA01025008;AC099754;AC114877;AF396933;AMYH02006432;AMYH02006433;AMYH02006434;AMYH02006435;AY358282;BC040656;BC067784;BC087849;CH471055;KF457616;KF457618;NM_052953;XM_005264847;XM_005264849;XM_005264850;XM_006712959 AAH40656;AAH67784;AAH87849;AAK84157;AAQ88649;CAL37719;CAL37871;CAL38040;CAL38081;CAL38282;CAL38323;CAL38499;CAL38694;EAW64373;EAW64374;NP_443185;Q96PB8;XP_005264904;XP_005264906;XP_005264907;XP_006713022 Hs.517868 1668451;1784652;2164533;2176698 SHGC-142117;SHGC-36389;SHGC-76784;WI-20503 LRP15;MGC102927 OTTHUMP00000161131;OTTHUMP00000208343;OTTHUMP00000208344;OTTHUMP00000209366;OTTHUMP00000209367;leucine-rich repeat protein LRP15;leucine-rich repeat-containing protein 3B protein-coding ENSG00000179796 HGNC:28105 14318 PROVISIONAL 2289765 LRRC37BP1 leucine rich repeat containing 37B pseudogene 1 17 17 17 q11.2 25865227 25865738 - 28903483 28964484 + 30576465 30637466 + 11181995;12477932;15236313;16303743;16344560;21906983 147172 ABBA01014994;ABBA01014995;ABBA01014996;ABBA01014997;ABBA01014998;ABBA01014999;ABBA01015000;AC005562;AC011840;AI420621;AK075282;AK124001;AK124759;AK125981;AL359623;AL713754;AMYH02033275;AMYH02033276;AMYH02033277;BC035414;BC042455;BC118647;CH471159;CQ783411;DB024747;NR_015341 BAC11518;BAG53991;BAG54091;CAD28527;CAF86615;EAW51242 Hs.568209 1335526;1340819;1643776;1662179;1680631;1684004;1687972;5015619;5020740;5022651;5024413;5037552;5123066 D11S2921;D11S3114;D17S1863;D2S313;D8S2279;L17809;L17877;RH46557;RH65739;RH78000;RH79618;RH91783;WI-12393 DKFZp667M2411;FLJ43993;LRRC37B2 putative LRRC37B-like protein 2 APPROVED pseudo HGNC:25390 13217 VALIDATED 2859971 LRRC37A11P leucine rich repeat containing 37, member A11, pseudogene INTERACTS WITH benzo[a]pyrene 17 17 17 q12 33846995 33870286 + 37186159 37209458 + 39029906 39053205 + 6480464 12477932 342666 ABBA01031886;AC091178;AK125814;AMYH02033370;BC111725;NR_033753 AAI11726;BAC86303 Hs.129645 1334791;1336119 D17S1818;D17S250 FLJ43826;MGC133195 APPROVED pseudo ENSG00000214553 HGNC:43815 13478 VALIDATED 1604206 LRRC45 leucine rich repeat containing 45 ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; INTERACTS WITH (+)-catechin; 2-methylcholine; atrazine 17 17 17 q25.3 1349 3123 - 79981280 79989027 + 82023323 82031151 + 6480464;8554872 12477932;15489334;18330356;21139048;22939629;24035387 201255 J3KTD4;Q96CN5 ABBA01019660;AC137723;AMYH02034146;BC014109;NM_144999;XM_006722275 AAH14109;ADZ15347;NP_659436;Q96CN5;XP_006722338 Hs.143774 1762803 SHGC-146582 MGC20806 leucine-rich repeat-containing protein 45 protein-coding ENSG00000169683 HGNC:28302 14476 PROVISIONAL 1604548 LRRC42 leucine rich repeat containing 42 INTERACTS WITH 5-aza-2'-deoxycytidine; bisphenol A; cisplatin 1 1 1 p33-p32.1 52699725 52721528 + 54411999 54433841 + 53946326 53968168 + 6480464 12477932;14702039;15489334;16303743;17207965;21139048;21145461;21832049;21906983;21963094;22939629;23000965;24250222;24806090;8889548 115353 A6NL66;E7EP35;Q9Y546 ABBA01074729;AK074521;AK075201;AK090881;AK095767;AL031427;AMYH02001043;BC013101;CB851494;CH471059;CQ783291;CX783955;NM_001256409;NM_052940;XM_006710327;XM_006710328 AAH13101;ADQ31754;BAC11038;BAC11466;CAF86501;EAX06713;EAX06714;EAX06715;EAX06716;NP_001243338;NP_443172;Q9Y546;XP_006710390;XP_006710391 Hs.40094 2107393;2170440 HUM000S154;MGC8974__7731 MGC8974;dJ167A19.4 OTTHUMP00000010107;OTTHUMP00000010108;leucine-rich repeat-containing protein 42 protein-coding ENSG00000116212 HGNC:28792 14711 VALIDATED 1602198 LRRC46 leucine rich repeat containing 46 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); titanium dioxide (ortholog) 17 17 17 q21.32 42361797 42367883 + 45908993 45915079 + 47831627 47837713 + 6480464;8554872 12477932;15489334;16344560;17207965;24250222;8889548 90506 J3KSP7;J3QQW4;Q96FV0 ABBA01041146;AC003665;AK027206;AK292765;AK315665;AMYH02033529;BC010412;BM663857;CH471109;DB024018;NM_033413;XM_005257775 AAH10412;ADQ32356;BAF85454;BAG38031;EAW94793;EAW94794;NP_219481;Q96FV0;XP_005257832 Hs.130767 1652222 WI-16780 FLJ23553;MGC16309 leucine-rich repeat-containing protein 46 protein-coding ENSG00000141294 HGNC:25047 08320 VALIDATED 1603205 LRRC47 leucine rich repeat containing 47 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN metabolic process (inferred); INTERACTS WITH (S)-colchicine; adenine; atrazine 1 1 1 p36.32 2950824 2967113 - 3696784 3713068 - 3780220 3796504 - 6480464 10574461;12477932;15489334;16710414;17081983;19322201;19615732;21139048;21145461;22190034;22268729;22586326;22589738;22863883;22939629;23463506;23720494;24816145;25027693 57470 J3KRP5;Q8N1G4 AB033011;ABBA01073652;ABBA01073653;AL365330;AMYH02000138;BC012300;BC031301;CH471130;NM_020710 AAH31301;BAA86499;EAW71478;EAW71479;NP_065761;Q8N1G4 Hs.268488 1646477;1656327;5015619;5037552;5093632 A009U07;D11S3114;D8S2279;G32833;SHGC-74134 KIAA1185;RP1-286D6.3 OTTHUMP00000003589;leucine-rich repeat-containing protein 47 protein-coding HGNC:29207 13837 VALIDATED 1607070 LRRC41 leucine rich repeat containing 41 INVOLVED IN protein ubiquitination (inferred); FOUND IN membrane; INTERACTS WITH cytarabine; elemental selenium; lead(0) 1 1 1 p34.1 45031452 45056418 - 46744072 46769038 - 46278400 46303366 - 6480464 11384984;12477932;14702039;15489334;15498874;16169070;16189514;16498413;17081983;18187417;19946888;21139048;21145461;21890473;21906983;21963094;22505724;22990118;23000965;8125298;8889548 10489 Q15345 ABBA01050841;AF370430;AK024051;AK125827;AK223420;AK291283;AK296436;AK297596;AL121602;AL122001;AMYH02000956;BC004953;BC092479;BC101522;BC101524;BM548142;BU155079;BX537366;CF125098;CH471059;NM_006369;X86018;XM_005270376 AAH04953;AAH92479;AAI01523;AAI01525;AAQ15266;BAB14801;BAC86308;BAD97140;BAF83972;BAG59091;BAG59981;CAA60013;CAD97609;EAX06927;EAX06928;NP_006360;Q15345;XP_005270433 Hs.144941 1848897;2109733;2117603;2124723;2153360;5020946 L17971;RAD54L_8807;RH47045;RH70932;RH70950;SHGC-74777 MGC126571;MGC126573;MUF1;PP7759;RP4-636H5.2 MUF1 protein (MUF1);OTTHUMP00000009479;elongin BC-interacting leucine-rich repeat protein;leucine-rich repeat-containing protein 41 protein-coding ENSG00000132128 HGNC:16917 10102 VALIDATED 1349330 LRRC4 leucine rich repeat containing 4 This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008] 7 7 7 q31.3 122470530 122474408 - 127667124 127671002 - 128027071 128030949 - 1580863;6480464 10964959;12477932;12690205;12969517;12975309;14595443;14702039;15489334;15967442;16077900;16188120;16215635;16723503;16941076;17541939;18976507;21435336;21809374;22779921;22834685;24404152;8889548 64101 C9J7K7;C9J7V8;C9JA92;Q9HBW1 ABBA01057681;AC008039;AF196976;AI568859;AJ297858;AK172751;AK314047;AMYH02016712;AY358307;BC036685;BC111561;BC111745;BU682120;CH236947;CH471070;NM_022143 AAG28019;AAI11562;AAI11746;AAQ88674;BAD18737;BAG36756;CAC82651;EAL24316;EAW83639;NP_071426;Q9HBW1 Hs.655003 1651485;1769786;2138862 GDB:4585141;RH47485;STS-H23117 MGC133342;MGC133343;NAG14;NGL-2 OTTHUMP00000212281;OTTHUMP00000212282;OTTHUMP00000212283;OTTHUMP00000212284;brain tumor associated protein LRRC4;brain tumor-associated protein BAG;leucine-rich repeat-containing 4;leucine-rich repeat-containing protein 4;nasopharyngeal carcinoma-associated gene 14 protein;netrin-G2 ligand APPROVED protein-coding ENSG00000128594 HGNC:15586 10060 610486 VALIDATED 1606494 LRRC48 leucine rich repeat containing 48 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 17 17 17 p11.2 18816897 18861264 + 17876127 17920203 + 17972813 18016889 + 6480464;8554872 11076863;11230166;11256614;11840190;11997338;12477932;14702039;15489334;15489336;16344560;16381901;20379614;23354437 83450 B3KSC6;J3KRB8;J3KRN8;J3QR90;J3QRC9;J3QRH8;J3QS14;J3QSG4;K7EJT6;Q9H069 ABBA01009742;ABBA01009743;AC087163;AK093317;AK293011;AL136926;AMYH02033100;AMYH02033101;BC040276;BC047873;BC050419;BC050665;CH471196;DB032678;NM_001130090;NM_001130091;NM_001130092;NM_031294;XM_005256810;XM_006721583;XM_006721584;XM_006721585 AAH40276;AAH47873;AAH50419;AAH50665;BAF85700;BAG52688;CAB66860;CAL37611;CAL37643;EAW55681;EAW55682;EAW55683;NP_001123562;NP_001123563;NP_001123564;NP_112584;Q9H069;XP_005256867;XP_006721646;XP_006721647;XP_006721648 Hs.579264 1665009;1775977;1857734;2132144;2157224;2166655 RH11962;RH12043;RH68538;RH78106;SHGC-30411;WI-20708 DKFZp586M1120 OTTHUMP00000065661;OTTHUMP00000065662;OTTHUMP00000065663;leucine-rich repeat-containing protein 48 protein-coding ENSG00000171962 HGNC:25384 13181 VALIDATED 1603449 LRRC52 leucine rich repeat containing 52 INVOLVED IN ion transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); furan (ortholog); isoprenaline (ortholog) 1 1 1 q24.1 138618739 138638444 + 165513478 165533185 + 165544241 165563948 + 6480464;8554872 12477932;14702039;16710414;19064610;19536175 440699 Q8N7C0 AA725678;ABBA01047282;AK098677;AL157714;AMYH02002065;BC132981;BC132983;NM_001005214 AAI32982;AAI32984;BAC05375;NP_001005214;Q8N7C0 Hs.664975 1683188;2169251 D1S2197;RH99273 FLJ25811 BK channel auxiliary gamma subunit LRRC52;BK channel auxilliary gamma subunit LRRC52;OTTHUMP00000032565;leucine-rich repeat-containing protein 52 protein-coding ENSG00000162763 HGNC:32156 13396 615218 VALIDATED 1602639 LRRC43 leucine rich repeat containing 43 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH lead(0); lead(2+); lead diacetate (ortholog) 12 12 12 q24.31 122241514 122277364 + 122652266 122688018 + 122167719 122203471 + 6480464;8554872 12477932;16344560;24250222 254050 F5H0N3;Q8N309 ABBA01060479;ABBA01060480;AC048338;AK124107;AMYH02027415;AMYH02027416;BC029245;DA951767;NM_001098519;NM_152759 AAH29245;BAC85772;NP_001091989;NP_689972;Q8N309 Hs.374856 1720037 RH123813 MGC35140 OTTHUMP00000239739;leucine-rich repeat-containing protein 43 protein-coding ENSG00000158113 HGNC:28562 14601 VALIDATED 2292704 LRRC53 leucine rich repeat containing 53 FOUND IN integral component of membrane (inferred) p31.3 11181995;16710414 100144878 A6NM62 AC105271;CH471059 A6NM62;EAX06416 protein-coding HGNC:25255 1601993 LRRC40 leucine rich repeat containing 40 FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; cyclosporin A 1 1 1 p31.1 68900426 68961308 - 70610485 70671361 - 70144802 70205678 - 6480464 12477932;14702039;15489334;16344560;16710414;17643375;19946888;21139048;21890473;21906983;21963094;22053931;22939629;24457600;24816145;25036637;8125298 55631 Q9H9A6 ABBA01074488;ABBA01074489;AI015897;AK000338;AK022951;AK225337;AL162076;AL353771;AMYH02001238;BC003407;BC008586;CH471059;DA310461;NM_017768;XM_005271013;XM_006710757 AAH03407;AAH08586;ADZ15560;BAA91094;BAB14326;CAB82410;EAX06460;NP_060238;Q9H9A6;XP_005271070;XP_006710820 Hs.147836 1334854;1337628;1673815;7186790 D1S2798;D1S462;WI-15590 FLJ20331;RP4-677H15.1;dJ677H15.1 OTTHUMP00000010944;leucine-rich repeat-containing protein 40 protein-coding ENSG00000066557 HGNC:26004 08622 VALIDATED 1603880 LRRC55 leucine rich repeat containing 55 INVOLVED IN ion transport (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH trichostatin A; ketamine (ortholog) 11 11 11 q12.1 54308169 54318131 + 56949221 56959188 + 57181747 57191714 + 6480464 12477932;14702039;15340161;20379614 219527 Q6ZSA7 ABBA01021468;AK023401;AK127591;AL832845;AMYH02024838;AP001786;BC136737;BC136739;BC150572;CH471076;NM_001005210 AAI36738;AAI36740;AAI50573;BAC87047;EAW73729;NP_001005210;Q6ZSA7 Hs.199853 1755723 SHGC-142571 DKFZp667D0425;FLJ13339;FLJ45686 BK channel auxiliary gamma subunit LRRC55;BK channel auxilliary gamma snit LRRC55;OTTHUMP00000214782;leucine-rich repeat-containing protein 55 protein-coding ENSG00000183908 HGNC:32324 16990 615213 VALIDATED 1602825 LRRC57 leucine rich repeat containing 57 FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; ethyl methanesulfonate 15 15 15 q15.2 19602426 19608708 - 42834720 42841002 - 42542522 42548804 - 6480464 12477932;14702039;15146197;15489334;16344560;17207965;19056867;21139048;21890473;21906983;22505724;22939629;23000965;24816145 255252 H3BSW0;Q8N9N7 ABBA01038368;AC018362;AF087994;AK094131;AK094891;AK309861;AMYH02030286;BC051262;BC058935;BE301068;BQ130124;BX538324;CH471125;CN350663;CR749223;DA749946;NM_153260 AAH58935;ADQ32576;BAC04294;BAC04451;CAD98097;CAH18079;EAW92560;EAW92561;EAW92562;EAW92563;EAW92564;EAW92565;NP_694992;Q8N9N7 Hs.234681 2130224;5015961;5022450;5037552 D10S275;D15S1477;D8S2279;STS-N20577 DKFZp686H1865;FLJ36812 OTTHUMP00000161266;leucine-rich repeat-containing protein 57 protein-coding ENSG00000180979 HGNC:26719 08212 VALIDATED 1606554 LRRC49 leucine rich repeat containing 49 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; copper atom 15 15 15 q23 48075878 48233321 + 71145578 71342436 + 70853239 71050097 + 6480464;8554872 12477932;14702039;15489334;16344560;18575747;21906983;8125298;8889548 54839 B7Z7G0;H0YKE9;H0YKI5;H0YKQ0;H0YKS7;H0YLQ8;H0YLZ6;H0YM43;H0YMT2;H0YMZ6;H0YNI5;H0YNV5;H3BNA9;Q8IUZ0 ABBA01038750;AC013752;AC084703;AC090868;AK000163;AK097752;AK123672;AK125732;AK225137;AK295547;AK301971;AMYH02030723;AMYH02030724;BC026157;BC037982;BM662008;BM979547;BU729331;CH471082;DA395472;KF456086;NM_001199017;NM_001199018;NM_001284357;NM_017691;XM_005254492 AAH37982;BAA90984;BAG53524;BAG53933;BAH12102;BAH13596;EAW77864;EAW77865;EAW77866;EAW77867;NP_001185946;NP_001185947;NP_001271286;NP_060161;Q8IUZ0;XP_005254549 Hs.12692 1338409;1677176;1680433;2152800;2170977;2174145;5109281 D15S131;D15S914;D1S1425;HSC26A052;RH93029;SHGC-3419;WI-12203 FLJ20156;PGs4 leucine-rich repeat-containing protein 49;tubulin polyglutamylase complex subunit 4 protein-coding ENSG00000137821 HGNC:25965 07880 VALIDATED 1605967 LRRC4C leucine rich repeat containing 4C NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008] 11 11 11 p12 40289300 40469240 - 40135524 41481186 - 40114199 41459636 - 6480464;8554872 10997877;12477932;12975309;14595443;15489334;15590698;16344560;20029409;20379614;20548944;21107309;21988832;22365631;23382691;23986473;24324551 57689 E9PLP4;Q4JIV9;Q4JIW0;Q9HCJ2 AB046800;ABBA01060801;ABBA01060802;ABBA01060803;ABBA01060804;ABBA01060805;ABBA01060806;ABBA01060807;ABBA01060808;ABBA01060809;ABBA01060810;ABBA01060811;AC013488;AC016845;AC018951;AC021824;AC023943;AC025069;AC080100;AC090138;AC090720;AC104235;AC104387;AC116015;AI806109;AK289646;AMYH02024649;AMYH02024650;AMYH02024651;AMYH02024652;AMYH02024653;AMYH02024654;AMYH02024655;AMYH02024656;AMYH02024657;AMYH02024658;AMYH02024659;AMYH02024660;AY358293;BC041374;BX951676;CH471064;DA387604;DQ084201;DQ084202;NM_001258419;NM_020929;NR_047673;NR_047674 AAH41374;AAQ88660;AAY86708;AAY86709;BAB13406;BAF82335;EAW68107;NP_001245348;NP_065980;Q9HCJ2 Hs.745123 1334599;1335111;1722785;1750163;1756065;2219178;5492287 D11S1360;D11S4173;G60334;Lrrc4c;NGL-1__6051;SHGC-112280;SHGC-142869 KIAA1580;NGL-1;NGL1 OTTHUMP00000232761;leucine-rich repeat-containing protein 4C;netrin-G1 ligand APPROVED protein-coding ENSG00000148948 HGNC:29317 12303 608817 VALIDATED 1351490 LRRC6 leucine rich repeat containing 6 The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Dec 2012] 8 8 8 q24.22 129759252 129862622 - 133584201 133687863 - 132570419 132684968 - 6480464;8699517 10775177;11329013;12477932;15489334;15831481;19395640;20215474;20301301;23122586;23122589;23527195;23891469;25036637 23639 E5RHF9;G5EA20;H0YAS5;H0YBC4;Q86X45 ABBA01014205;ABBA01014206;ABBA01014207;AF216667;AK313107;AMYH02018808;BC027589;BC047286;BG204280;CH471060;DA310108;KC877337;KC877338;KF495736;KF511065;KF511067;NG_033068;NM_012472;NR_073525;XM_006716538;XM_006716539;XR_428377 AAH27589;AAH47286;EAW92143;EAW92144;NP_036604;Q86X45;XP_006716601;XP_006716602 Hs.591865 2132217;2155095 RH70686;STS-T91224 CILD19;LRTP;TSLRP OTTHUMP00000227142;OTTHUMP00000227144;leucine rich testes protein;leucine-rich repeat-containing protein 6;leucine-rich testis-specific protein;protein TILB homolog;testis specific leucine rich repeat protein;testis-specific leucine-rich repeat protein protein-coding ENSG00000129295 HGNC:16725 10286 614930;614935 REVIEWED 1316128 LRRC4B leucine rich repeat containing 4B ENCODES a protein that exhibits receptor binding (inferred); INVOLVED IN positive regulation of synapse assembly (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); cerebellar mossy fiber (inferred); integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); benzo[a]pyrene (ortholog) 19 19 19 q13.33 48071474 48122624 - 51020149 51071302 - 50516892 50568162 - 1580863;6480464;8554872 11441184;12477932;15057824;15489334 94030 M0R2G0;Q9NT99 ABBA01068315;ABBA01068316;ABBA01068317;ABBA01068318;AC008743;AL137451;AMYH02036356;AMYH02036357;AMYH02036358;AX392983;AX590252;BC019687;BC032460;BC056207;BC131897;CH471135;CS083253;NM_001080457;XM_005259429;XM_006723506 AAH19687;AAH32460;AAH56207;AAI31898;AAI56080;AAI72459;CAB70743;CAD29039;CAD61785;CAI96013;EAW71884;EAW71885;EAW71886;NP_001073926;Q9NT99;XP_005259486;XP_006723569 Hs.120873 1335307 D19S907 DKFZp761A179;HSM;LRIG4;NGL-3 leucine-rich repeat-containing protein 4B;leucine-rich repeats and immunoglobulin-like domains 4;netrin-G3 ligand protein-coding ENSG00000131409 HGNC:25042 PROVISIONAL 1602410 LRRC66 leucine rich repeat containing 66 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH trichostatin A; cadmium dichloride (ortholog); mono(2-ethylhexyl) phthalate (ortholog) 4 4 4 q12 50354945 50381556 - 52859806 52886477 - 51993640 52020311 - 6480464;8554872 12477932 339977 Q68CR7 ABBA01003374;AC093858;AC104784;AMYH02009196;BC040414;CR749811;NM_001024611;XM_005265739 CAH18671;NP_001019782;Q68CR7;XP_005265796 Hs.661450 1674669;1718233;1725453;1778936;2143428 D4S2486E;RH119122;RH122886;SHGC-50265;STS-W81563 OTTHUMP00000218615;leucine-rich repeat-containing protein 66 protein-coding ENSG00000188993 HGNC:34299 18593 PROVISIONAL 1604970 LRRC63 leucine rich repeat containing 63 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH C60 fullerene (ortholog); pyridaben (ortholog) 13 13 13 q14.13 27841088 27905853 + 46786083 46850944 + 46211943 46276803 + 6480464;8554872 12477932;17903304;24250222 220416 J3KQU2;M0QXR7;Q05C16 ABBA01050984;ABBA01050985;AL137141;AL139801;AMYH02027985;BC030276;CH471075;NM_001282460 AAH30276;EAX08759;EAX08760;EAX08761;NP_001269389;Q05C16 Hs.267765 2111516 D13S1495 OTTHUMP00000018363;RP11-139H14.4;leucine-rich repeat-containing protein 63 protein-coding ENSG00000173988 HGNC:34296 18580 VALIDATED 1604547 LRRC56 leucine rich repeat containing 56 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH fonofos; parathion; terbufos 11 11 11 p15.5 599982 617257 + 536722 554916 + 536722 554916 + 6480464;8554872 12477932;14702039;15489334 115399 Q8IYG6;Q9H7I5 ABBA01015192;AC137894;AC138374;AK024495;AL831961;AMYH02024143;AMYH02024144;AP006284;BC016439;BC035936;BC035937;CH471158;NM_198075;XM_005252775;XM_005252776;XM_005252777;XM_006718132;XM_006718133;XM_006718134;XM_006718135;XM_006725131;XM_006725132;XM_006725133;XM_006725134;XM_006725135 AAH16439;AAH35937;BAB15785;CAD38603;EAX02342;EAX02343;EAX02344;NP_932341;Q8IYG6;XP_005252832;XP_005252833;XP_005252834;XP_006718195;XP_006718196;XP_006718197;XP_006718198;XP_006725194;XP_006725195;XP_006725196;XP_006725197;XP_006725198 Hs.567655 1693542;1757861;1757863 SHGC-146715;SHGC-146716;SHGC-58456 DKFZp761L1518;FLJ00101 OTTHUMP00000162846;leucine-rich repeat-containing protein 56 protein-coding ENSG00000161328 HGNC:25430 13227 VALIDATED 8695327 LRRC6P1 leucine rich repeat containing 6 pseudogene 1 11 11 11 38386519 38387929 + 38232939 38234349 + 38211389 38212799 + 100420589 ABBA01060834;AC021829;AMYH02024633;NG_024476 pseudo HGNC:51151 INFERRED 1606179 LRRC58 leucine rich repeat containing 58 INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; benzo[a]pyrene 3 3 3 q13.33 118452974 118477585 - 120043576 120068186 - 120324729 120349339 - 6480464 11076863;12477932;14702039;15489336;16381901;21139048;21890473;21906983;21963094;21987572;22053931;22174851;22505724;22566634;23000965;24250222;25015289 116064 Q96CX6 ABBA01061566;AC063952;AK056809;AMYH02007511;BC013757;CH471052;NM_001099678 AAH13757;CAL38114;EAW79529;NP_001093148;Q96CX6 Hs.518084 1775701;1777846;5015322;5015619;5022578;5037552 D10S512;D11S3114;D1S1423;D8S2279;RH36137;SHGC-77231 OTTHUMP00000215179;leucine-rich repeat-containing protein 58 protein-coding ENSG00000163428 HGNC:26968 VALIDATED 2302535 LRRC70 leucine rich repeat containing 70 FOUND IN integral component of membrane (inferred); INTERACTS WITH bisphenol A; crotonaldehyde; (2,4,5-trichlorophenoxy)acetic acid (ortholog) 5 5 5 q12.1 58871496 58874209 + 61874562 61877275 + 62578735 62581448 + 6480464 11181995;12477932;12767927;12975309;14702039;22505724 100130733 D6RD14;Q7Z2Q7 ABBA01048360;AC114982;AK123022;AMYH02011391;AY280614;AY358733;BC067275;BC110838;BF511602;CH471137;CS161380;FJ695194;NM_181506 AAP36706;AAQ89095;BAC85517;CAJ30881;EAW51382;NP_852607;Q7Z2Q7 Hs.721348 2109861 SLRN__6857 DKFZp686E10165;FLJ41026;SLRN OTTHUMP00000221872;leucine-rich repeat-containing protein 70;synleurin protein-coding ENSG00000186105 HGNC:35155 VALIDATED 1349743 LRRC7 leucine rich repeat containing 7 PARTICIPATES IN calcium/calmodulin dependent kinase 2 signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); cytoplasm (inferred); postsynaptic membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; cocaine; potassium chromate 1 1 1 p31.1 68515739 68879117 + 70033230 70589171 + 69567547 70124234 + 1580863;6480464;7240705;8554872 22717267 10718198;11160423;11729199;12390249;12477932;12525888;12819232;15767459;16120608;16710414;16741999;17039495;17353931;17581699;17968527;18029348;20379614;21610080;21784300;22072671;22322875;22419666;23251661;23782696;24348519;25011449;8824323 57554 B1AKT2;F8WE45;K7ELH5;Q96NW7;V9GY23;V9GYE1;V9GZ42 AB037786;ABBA01074489;ABBA01074490;ABBA01074491;ABBA01074492;ABBA01074493;AF434715;AF498274;AK294206;AL117353;AL157948;AL158840;AL359412;AL359894;AL391728;AMYH02001234;AMYH02001235;AMYH02001236;AMYH02001237;BC128989;CH471059;CR749629;KF454959;NM_020794;XM_006710782 AAI28990;AAL28133;AAP06801;BAA92603;BAH11697;CAH18423;EAX06461;EAX06462;EAX06463;EAX06464;EAX06465;NP_065845;Q96NW7;XP_006710845 Hs.479658 1654127;1671054;1691878;1692116;1692538;1700942;2109653;2113686;2117749;2122489;2128420;2154252;2170398;2174382;2190911;5111234 A006P38;AB047969;AL009998;AL033698;AL033922;AL033992;D1S1886E;D1S2489;D1S3046;G09705;MARC_11455-11456:1000490363:1;PIN1L__6997;RH104098;RH78155;SHGC-30900;SHGC-75056 DKFZp686I1147;KIAA1365;MGC144918 OTTHUMP00000065336;OTTHUMP00000065337;densin;densin-180;leucine-rich repeat-containing protein 7 protein-coding ENSG00000033122 HGNC:18531 09930 614453 VALIDATED 5508492 LRRC72 leucine rich repeat containing 72 7 7 7 p21.1 16546301 16600867 + 16566505 16621114 + 16526880 16581489 + 12853948;20379614;9847074 100506049 A6NJI9;F8VSY1 ABBA01056629;ABBA01056630;AC005014;AMYH02015304;AW341438;BF222754;CH236948;DT932641;DT932642;NM_001195280 A6NJI9;NP_001182209 Hs.278036 OTTHUMP00000201685;leucine-rich repeat-containing protein 72;leucine-rich repeat-containing protein ENSP00000371558 protein-coding ENSG00000205858 HGNC:42972 VALIDATED 2293909 LRRC69 leucine rich repeat containing 69 INTERACTS WITH trichostatin A; valproic acid 8 8 8 q21.3 88309873 88425524 + 92114847 92231473 + 91102619 91219236 + 6480464 12477932;14702039;20972266 100130742 E5RHQ9;E5RJ66;Q6ZNQ3 ABBA01037416;ABBA01037417;AC087439;AC104966;AC104967;AK097393;AK130865;AMYH02018398;AMYH02018399;AMYH02018400;AMYH02018401;CH471060;NM_001129890 BAC85448;EAW91678;NP_001123362;Q6ZNQ3 Hs.733070 1745555;1745557;1745561;1745563;1745565;1745567;1745569;1755783;1786686;1849047 D3S3906;GDB:624444;GDB:624447;GDB:624453;GDB:624457;GDB:624463;GDB:624469;GDB:624472;SHGC-142626;SHGC-154077 MGC104559 OTTHUMP00000246886;leucine-rich repeat-containing protein 69 protein-coding HGNC:34303 PROVISIONAL 1602102 LRRC61 leucine rich repeat containing 61 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; pirinixic acid 7 7 7 q31-q35 144577385 144592335 + 150020296 150035245 + 150322659 150338156 + 6480464;8554872 12477932;12690205;12853948;14702039;15489334;16344560;17207965;19060904 65999 Q9BV99;Q9P087 AACC02000108;ABBA01035192;AC005586;AF161413;AK025869;AK055954;AK093915;AK098061;AMYH02017057;AW444958;BC001354;CH471173;DB001467;NM_001142928;NM_023942;XM_006716095 AAF28973;AAH01354;AAS00383;ADQ31611;BAG51597;BAG52784;BAG53572;EAL24472;EAW54123;EAW54124;EAW54125;NP_001136400;NP_076431;Q9BV99;XP_006716158 Hs.647119 1775212;1856543;2145972 GDB:4585543;RH18192;SGC34814 FLJ22216;FLJ31392;HSPC295;MGC3036 OTTHUMP00000212801;OTTHUMP00000212802;OTTHUMP00000212803;leucine-rich repeat-containing protein 61 protein-coding ENSG00000127399 HGNC:21704 08326 VALIDATED 1602795 LRRC74B leucine rich repeat containing 74B 22 22 22 q11.21 4891551 4909746 + 21400249 21418457 + 21045960 21064168 + 12477932 400891 Q6ZQY2 ABBA01015432;AC002472;AK128646;AMYH02038086;BC028231;BC036220;BC140948;BC140950;CH471176;NM_001291006;NR_027006;NR_110991 BAC87547;EAX02907;NP_001277935;Q6ZQY2 Hs.291198 1674448;1716383;1754745;1761305;2126084;5021872;5022450;5037552 D10S275;D22S548;D22S555;D8S2279;RH121372;SHGC-133106;SHGC-145314;sY3084 leucine-rich repeat-containing protein LOC400891 APPROVED protein-coding ENSG00000187905 HGNC:34301 18419 VALIDATED 1604449 LRRC75A leucine rich repeat containing 75A INTERACTS WITH all-trans-retinoic acid; valproic acid; chloroprene (ortholog) 17 17 17 p11.2 16248226 16298391 - 16345319 16395505 - 16442005 16492191 - 6480464 12477932;14702039;20379614 388341 B7ZMA3;Q8NAA5 ABBA01035652;AC093484;AC127540;AI298465;AK093015;AL833245;AL833260;AMYH02033078;BC144381;BF966204;CH471222;DB460063;DN997688;NM_001113567;NM_207387 AAI44382;BAC04020;EAX04516;EAX04517;NP_001107039;NP_997270;Q8NAA5 Hs.25425 1685197;1686254;1686600;1687862;1754423;2117735;2160830;2170358;2170360 D17S1366E;D17S1661;RH36840;RH66249;RH79195;RH94093;RH94205;SHGC-132464;SHGC-3233 C17orf76;FAM211A;FLJ35696 OTTHUMP00000064962;OTTHUMP00000064963;family with sequence similarity 211, member A;leucine-rich repeat-containing protein 75A;leucine-rich repeat-containing protein C17orf76;leucine-rich repeat-containing protein FAM211A APPROVED protein-coding ENSG00000181350 HGNC:32403 16939 VALIDATED 1601719 LRRC71 leucine rich repeat containing 71 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; paracetamol; dibutyl phthalate (ortholog) 1 1 1 q23.1 129961654 129974111 + 156890400 156902881 + 156920608 156933089 + 6480464;8554872 12477932;14702039;8889548 149499 A8K8H7;Q8N4P6 ABBA01016641;AK057446;AK292342;AL356104;AMYH02001983;BC033790;BU689904;CH471121;NM_144702;XM_005244926;XM_005244927;XM_005244928;XM_006711185;XM_006711186;XM_006711187;XM_006711188;XM_006711189;XM_006711190;XR_241072 AAH33790;BAB71490;BAF85031;EAW52895;EAW52896;EAW52897;EAW52898;NP_653303;Q8N4P6;XP_005244983;XP_005244984;XP_005244985;XP_006711248;XP_006711249;XP_006711250;XP_006711251;XP_006711252;XP_006711253 Hs.491734 2119018 RH47680 C1orf92;FLJ32884;FLJ77598;MGC45468;RP11-356J7.1 OTTHUMP00000038729;leucine-rich repeat-containing protein 71;leucine-rich repeat-containing protein C10orf92 APPROVED protein-coding ENSG00000160838 HGNC:26556 08737 VALIDATED 1606646 LRRC75B leucine rich repeat containing 75B INTERACTS WITH calcitriol; cyclosporin A; testosterone 22 22 22 q11.23 8781332 8788778 - 24981588 24989073 - 24585620 24593106 - 6480464 12477932;14702039;15489334;18940312;21909109 388886 F8WCG9;F8WCZ7;Q2VPJ9 ABBA01055141;AK097054;AMYH02038144;AP000356;BC017595;BC032388;BC108684;BI544432;CH471095;DB535827;KF511433;NG_008111;NM_207644;XM_005261600;XR_244373 AAH17595;AAH32388;AAI08685;BAC04937;EAW59674;EAW59675;EAW59676;NP_997527;Q2VPJ9;XP_005261657 Hs.113314 C22orf36;FAM211B;MGC131773 OTTHUMP00000198391;family with sequence similarity 211, member B;leucine-rich repeat-containing protein 75B;leucine-rich repeat-containing protein C22orf36;leucine-rich repeat-containing protein FAM211B APPROVED protein-coding ENSG00000178026 HGNC:33155 14208 VALIDATED 1346466 LRRC73 leucine rich repeat containing 73 INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 6 6 6 p21.1 45026328 45030045 - 43474703 43478081 - 43506965 43510343 - 6480464 12477932;14574404;15489334 221424 Q3B825;Q5JTD7 ABBA01050680;AK126786;AL355802;AMYH02013648;BC107130;BC108661;CH471081;HY024930;NM_001012974;NM_001271882;XM_006715015 AAI07131;AAI08662;BAG54373;EAX04202;NP_001012992;NP_001258811;Q5JTD7;XP_006715078 Hs.445552 2154952;2159452;2186339 D6S2069;RH46607;STS-D29507 C6orf154;FLJ44836;MGC131686;dJ337H4.2 OTTHUMP00000016460;hypothetical protein LOC221424;leucine-rich repeat-containing protein 73;uncharacterized protein C6orf154 APPROVED protein-coding ENSG00000204052 HGNC:21375 10167 VALIDATED 1606168 LRRC75A-AS1 LRRC75A antisense RNA 1 FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; cadmium atom 17 17 17 p11.2 16245200 16276873 + 16342301 16374344 + 16438987 16470648 + 6480464 10393949;12477932;15146197;15342556;16344560;16712791;17207965;17567985;19322201;21900206;8889548 125144 Q8N1F1;Q96EF2 ABBA01035652;AC093484;AC127540;AJ012499;AK098643;AK307982;AK308482;AK309961;AK311247;AMYH02033078;BC012396;BC019833;BC027986;BC040159;BI333700;BP353162;BP377665;BP870476;BQ070126;BQ954204;BU165462;BU506593;BU599615;BX538291;CB150672;CD050014;CD389053;CF126952;CH471222;CN297624;CR989654;DA131201;DA193585;DA383448;DA440445;DA485648;DA494627;DA769571;DA793334;DA802938;DA857697;DA867958;DB258221;DW409012;NR_027158;NR_027159;NR_027160;NR_027161;NR_027162;NR_027163;NR_027164;NR_027165;NR_027166;NR_027167;NR_027168;NR_027169;NR_027170;NR_027171;NR_027172;NR_027173;NR_027174;NR_027175;NR_027176;NR_027177;NR_027178;NR_027179;NR_027667;NR_045021;NR_045022;NR_045023;NR_045024;NR_045025;NR_045026;NR_045027;NR_045028;NR_045029 AAH12396;AAH19833;AAH27986;AAH40159;ADQ31723;CAD98086;EAX04510;EAX04511;EAX04512;EAX04513;EAX04514;EAX04515;Q8N1F1 Hs.368934 1685197;1686254;1686600;1687862;1754423;1783516;2117735;2160830;2170358;2170360 D17S1366E;D17S1661;RH36840;RH66249;RH79195;RH94093;RH94205;SHGC-132464;SHGC-149766;SHGC-3233 C17orf45;C17orf76-AS1;FAM211A-AS1;FLJ25777;MGC40157;NCRNA00188;TSAP19 APPROVED ncrna ENSG00000175061 HGNC:28619 17549 PREDICTED 1605059 LRRC59 leucine rich repeat containing 59 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN endoplasmic reticulum; membrane; mitochondrial nucleoid; INTERACTS WITH 4-hydroxynon-2-enal; cyclosporin A; formaldehyde 17 17 17 q21.33 44919883 44936207 - 48458594 48474914 - 50381233 50397553 - 6480464 12477932;12665801;15489334;16344560;16541025;16751776;17215244;17353931;17361185;18029348;18063578;19615732;19710015;19738201;19946888;20848231;21139048;21145461;21832049;21890473;21906983;21907836;21963094;22113938;22178446;22321063;22412018;22505724;22623428;22939629;23000965;23125841;23246001;24583282;24816145;8889548 55379 I3L223;I3L2E8;Q96AG4 ABBA01041239;ABBA01041240;AC004707;AF119857;AK025328;AK130572;AK316593;AMYH02033589;BC017168;BC033695;BC052279;BM664133;CH471109;DA782636;DQ579028;NM_018509 AAF69611;AAH17168;AAH52279;ABM83301;ABM86515;BAG38180;EAW94615;EAW94616;NP_060979;Q96AG4 Hs.370927 1725759;1774306;2107047;2133631;2133633;2143934;2146576;2183388 A006I13;EME1__7583;G09433;G20838;G62125;RH48149;SGC32559;WI-11424 FLJ21675;PRO1855;p34 OTTHUMP00000221187;OTTHUMP00000221216;leucine-rich repeat-containing protein 59;ribosome-binding protein p34 protein-coding ENSG00000108829 HGNC:28817 15181 614854 VALIDATED 1320026 LRRC8D leucine rich repeat containing 8 family, member D INVOLVED IN ion transport (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 p22.2 88532275 88647680 + 90286573 90401991 + 89821014 89936432 + 6480464 12477932;12975309;14702039;15094057;15231747;15342556;15489334;16344560;16710414;18187620;19946888;21555518;21832049;8125298;8619474;9110174 55144 B3KRU1;E9PJ89;E9PJS7;E9PL08;E9PMF9;Q5VWA0;Q7L1W4;Q96GG5 ABBA01045585;ABBA01045586;AC099568;AI671275;AK001332;AK092238;AK222787;AL391497;AL831880;AL832952;AMYH02001439;AMYH02001440;AMYH02001441;AMYH02001442;AY007147;AY358874;BC009486;BC024159;BP283613;BX093623;CH471097;DA126452;DB097950;NM_001134479;NM_018103;XM_005270991 AAH09486;AAH24159;AAQ89233;BAA91631;BAD96507;BAG52503;CAH56273;CAH56285;EAW73130;EAW73131;EAW73132;NP_001127951;NP_060573;Q7L1W4;XP_005271048 Hs.482087 1711974;1748717;1750251;1771915;2109485 LRRC5_9879;RH118438;SHGC-110361;SHGC-112470;SHGC-75120 FLJ10470;FLJ20403;LRRC5 OTTHUMP00000012307;OTTHUMP00000012308;OTTHUMP00000012395;OTTHUMP00000231587;leucine rich repeat containing 5;leucine-rich repeat-containing 5;leucine-rich repeat-containing protein 5;leucine-rich repeat-containing protein 8D;volume-regulated anion channel subunit LRRC8D protein-coding ENSG00000171492 HGNC:16992 11287 612890 VALIDATED 1603492 LRRC9 leucine rich repeat containing 9 INTERACTS WITH kojic acid; potassium dichromate (ortholog) 14 14 14 q23.1 40435670 40579626 + 60386431 60530277 + 59919713 60063559 + 6480464 341883 H3BUB1;H3BUS4;Q6ZRR7 ABBA01018275;ABBA01018276;ABBA01018277;ABBA01018278;AK128037;AL133299;AL157911;AMYH02029291;AMYH02029292;NR_075071 BAC87242;Q6ZRR7 Hs.666245 1646884;1646886;1672742;1690888;1699882;1718889;2114643 A005A34;D14S1159;G20222;RH103549;RH123150;RH80977;STS-Z41154 FLJ46156 pseudo ENSG00000131951 HGNC:19848 13525 VALIDATED 1351641 LRRC74A leucine rich repeat containing 74A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol 14 14 14 q24.3 57331332 57375219 + 77292725 77336656 + 76826382 76870302 + 6480464;8554872 12477932;16344560;20379614 145497 B4DX10;G3V356;G3V5M6;H7BXD0;Q0VAA2;Q9Y628 ABBA01030669;ABBA01030670;AF111169;AK058106;AK125722;AK301762;AMYH02029556;AMYH02029557;AMYH02029558;BC062799;BC121159;BC121160;BC143896;CH471061;DB337977;DC397584;NM_194287;XM_005267360;XM_006720053;XM_006720054;XM_006720055 AAD44363;AAD44364;AAI21160;AAI21161;BAC86259;BAG63222;EAW81265;NP_919263;Q0VAA2;XP_005267417;XP_006720116;XP_006720117;XP_006720118 Hs.147276 1341109;1700940;1754123;2156881;7186436 D14S263;G36225;RH104097;SHGC-132157 C14orf166B;LRRC74 OTTHUMP00000196473;hypothetical protein LOC145497;leucine rich repeat containing 74;leucine-rich repeat-containing protein 74;uncharacterized protein C14orf166B APPROVED protein-coding ENSG00000100565 HGNC:23346 12621 VALIDATED 1604274 LRRC8C leucine rich repeat containing 8 family, member C INVOLVED IN fat cell differentiation (inferred); ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; bis(2-chloroethyl) sulfide; cadmium atom 1 1 1 p22.2 88344351 88430780 + 90098644 90185094 + 89633085 89719535 + 6480464;8554872 11230166;12477932;14702039;15094057;15184384;15489334;19946888;20379614;21139048;21890473;21906983;24529757 84230 A6NED7;E9PHY6;Q8TDW0 AB081509;ABBA01045586;AC093423;AC099569;AI014679;AK094804;AK127881;AL136919;AL699030;AMYH02001435;AMYH02001436;BC036122;BC103929;BC113973;CH471097;HI574124;NM_032270;XM_006710960 AAH36122;AAI13974;BAB86303;BAG54591;CAB66853;CBX47551;EAW73134;NP_115646;Q8TDW0;XP_006711023 Hs.412836 1685578;1698788;1775024;1848843;2122665;2159801;2218180 AD158__4251;AFMa205xd5;D5S2885;RH102957;RH99276;SHGC-63626;SHGC-75116 AD158;DKFZp586J1119;FAD158;MGC138551 OTTHUMP00000011964;factor for adipocyte differentiation 158;hypothetical protein AD158;leucine rich repeat containing 8C;leucine-rich repeat-containing protein 8C;volume-regulated anion channel subunit LRRC8C protein-coding ENSG00000171488 HGNC:25075 13284 612889 VALIDATED 4890229 LRRFIP1P1 leucine rich repeat (in FLII) interacting protein 1 pseudogene 1 3 3 q27 178975048 178979355 - 179257260 179261567 - 101290506 ABBA01058542;AC007823;AMYH02008222;NG_033175 pseudo ENSG00000240429 HGNC:32937 INFERRED 1323279 LRRC8A leucine rich repeat containing 8 family, member A This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34.11 102296285 102332152 + 131644391 131680318 + 128882112 128918039 + 1599837;6480464;7240710;8699517;8554872 14660746 10718198;12477932;12975309;14660738;14702039;15094057;15164053;15183935;15489334;16303743;16344560;17081983;19322201;19946888;21139048;21890473;22939629;24725410;24790029 56262 A8K1C7;Q8IWT6 AB037858;ABBA01043907;ABBA01043908;AK001199;AK024649;AK027495;AK074723;AK123611;AK289842;AL672142;AMYH02021728;AY143166;AY358286;BC000775;BC051322;BX376144;CA446287;CH471090;DA243590;NG_009630;NM_001127244;NM_001127245;NM_019594;XM_005252095;XM_005252096;XM_006717186 AAH51322;AAN18279;AAQ88653;BAA91549;BAA92675;BAB55153;BAC11161;BAF82531;EAW87842;EAW87843;NP_001120716;NP_001120717;NP_062540;Q8IWT6;XP_005252152;XP_005252153;XP_006717249 Hs.643600 1698830;1852279;1855848;5107094 D13S1783;RH102979;SGC34869;STS-D29325 AGM5;FLJ10337;FLJ41617;KIAA1437;LRRC8 OTTHUMP00000022308;OTTHUMP00000022309;leucine rich repeat containing 8;leucine-rich repeat-containing protein 8A;swelling protein 1;volume-regulated anion channel subunit LRRC8A APPROVED protein-coding ENSG00000136802 HGNC:19027 608360;613506 REVIEWED 5132687 LRRD1 leucine-rich repeats and death domain containing 1 INVOLVED IN signal transduction (inferred) 7 7 7 q21.2 86478757 86499146 - 91774169 91808900 - 92144884 92165276 - 12477932;14702039 401387 A4D1F6;C9K0I1 ABBA01045808;ABBA01045809;ABBA01045810;ABBA01045811;AC000120;AMYH02016259;BC026112;BC144674;BC144678;CH236949;NM_001161528 A4D1F6;AAH26112;AAI44675;AAI44679;EAL24153;NP_001155000 Hs.671729 1691790;1712052;5037552 D8S2279;G42253;G54006 FLJ34004;MGC178225;MGC178229 OTTHUMP00000208799;leucine-rich repeat and death domain-containing protein;leucine-rich repeat and death domain-containing protein 1;leucine-rich repeat and death domain-containing protein LOC401387 protein-coding ENSG00000240720 HGNC:34300 VALIDATED 1604796 LRRC8E leucine rich repeat containing 8 family, member E This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012] 19 19 19 p13.2 7824591 7838110 + 7953390 7966908 + 7888505 7902023 + 6480464 11076863;11230166;12477932;14702039;15094057;15489334;15489336;16344560;16381901;18854154;21139048;21906983;21963094 80131 M0QZ48;M0R2D8;M0R2K8;M0R3C1;Q6NSJ5 ABBA01010878;ABBA01010879;AC010336;AK027073;AK091134;AL834474;AMYH02035411;BC022216;BC070089;BC108252;BX538180;CB049178;CD109368;CF593782;CH471139;DA447942;KF459574;NM_001268284;NM_001268285;NM_025061;XM_005272497 AAH22216;AAH70089;AAI08253;BAB15648;BAG52290;CAD39133;CAL38392;EAW68969;NP_001255213;NP_001255214;NP_079337;Q6NSJ5;XP_005272554 Hs.501511 FLJ23420 leucine-rich repeat-containing protein 8E;volume-regulated anion channel subunit LRRC8E APPROVED protein-coding ENSG00000171017 HGNC:26272 08670 612891 REVIEWED 1604564 LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 INVOLVED IN mitotic nuclear division (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 8 8 8 q21.2 82024953 82063634 + 86019323 86058315 + 85107088 85146080 + 6480464;8554872 11214970;12477932;14702039;16169070;16344560;18029348;18728398;21890473 85444 B4DTJ0;E5RGA4;E5RI08;Q9C099 AA000990;AB051551;ABBA01004013;ABBA01004014;ABBA01004015;AC011773;AC083962;AK056185;AK057990;AK300234;AK300874;AK302648;AK307350;AK307443;AK307636;AMYH02018348;AMYH02018349;BC030701;BC070092;BR000818;CH471068;DA412089;DB458600;NM_033402;XM_005251317;XM_005251318;XM_005251319;XM_005251320;XM_005251321;XM_005251322 AAH30701;BAB21855;BAB71115;BAB71626;BAG62002;BAG62518;BAG63888;EAW87120;EAW87121;FAA00427;NP_208325;Q9C099;XP_005251374;XP_005251375;XP_005251376;XP_005251377;XP_005251378;XP_005251379 Hs.193115 Clerc;KIAA1764;SAP2;VFL1 OTTHUMP00000227499;OTTHUMP00000227504;centrosomal leucine-rich repeat and coiled-coil containing protein;centrosomal leucine-rich repeat and coiled-coil domain-containing protein;leucine rich repeat and coiled-coil domain containing 1;leucine-rich repeat and coiled-coil domain-containing protein 1;sodium channel associated protein 2;variable number of flagella 1 homolog APPROVED protein-coding ENSG00000133739 HGNC:29373 11160 VALIDATED 1606820 LRRC8B leucine rich repeat containing 8 family, member B INVOLVED IN ion transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; arsenous acid 1 1 1 p22.2 88236130 88309141 + 89989933 90063420 + 89524374 89597861 + 6480464;8554872 12477932;12975309;15094057;15489334;20379614;23648065;25011449;7829101;9039502 23507 C9JGJ7;Q6P9F7 ABBA01045587;AC099569;AF385436;AMYH02001435;AW022123;AY358112;AY640232;BC030607;BC035081;BC037831;BC053565;BC060782;BI459217;CH471097;D86984;NM_001134476;NM_015350;XM_005270701;XM_005270702;XM_005270703;XM_005270704;XM_006710541 AAH30607;AAH37831;AAH60782;AAM43837;AAQ88479;AAU14245;BAA13220;EAW73137;EAW73138;NP_001127948;NP_056165;Q6P9F7;XP_005270758;XP_005270759;XP_005270760;XP_005270761;XP_006710604 Hs.482017;Hs.741594 1660745;1663527;1771536;1781530;1798238;2114796;2171593;2171595;2187144;5017170;5109281 A001X03;Cda0pe09;D1S1425;D1S1575;D1S2373;G19735;L29953;RH25437;SHGC-142702;TA-LRRP_2565;WI-15594 KIAA0231;MGC42220;TA-LRRP;TALRRP OTTHUMP00000011820;T cell activation leucine repeat rich protein;T-cell activation leucine repeat-rich protein;leucine-rich repeat-containing protein 8B;volume-regulated anion channel subunit LRRC8B protein-coding ENSG00000197147 HGNC:30692 18145 612888 VALIDATED 1343054 LRRIQ1 leucine-rich repeats and IQ motif containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (+)-catechin; methyl methanesulfonate; pirinixic acid (ortholog) 12 12 12 q21.31 85093691 85302430 + 85430099 85658235 + 85036321 85264457 + 737633;6480464;8554872 12477932 11347906;14702039;16344560;18976975;20379614;8889548 84125 A8MY60;H0YCJ9;H0YEZ5;Q96JM4 AB058704;ABBA01053445;AC025418;AC079631;AC133794;AK022365;AK307799;AMYH02026870;AMYH02026871;AMYH02026872;AU122206;BC005399;BC093088;BU608190;BU677204;CA502842;CH471054;DB447399;DN831755;HG505044;KF455686;NM_001079910;XM_005269181;XM_005269183;XM_006719632;XM_006719633;XM_006719634;XM_006719635 AAH93088;BAB14022;BAB47430;EAW97393;EAW97394;EAW97395;EAW97396;NP_001073379;Q96JM4;XP_005269238;XP_005269240;XP_006719695;XP_006719696;XP_006719697;XP_006719698 Hs.402200 1340244;1713669;1746253;1746255;1746843;2165510;5014051;5022200;7186182 D12S81;D8S2278;G64415;G64511;G64788;L18426;RH120717;STS-N40969 FLJ12303;RP11-193M21.1 OTTHUMP00000232102;leucine-rich repeat and IQ domain-containing protein 1 protein-coding ENSG00000133640 HGNC:25708 09952 VALIDATED 2293898 LRRIQ4 leucine-rich repeats and IQ motif containing 4 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH dexamethasone (ortholog); lead diacetate (ortholog) 3 3 3 q26.2 167938185 167954845 + 169530658 169555561 + 169812870 169837773 + 6480464;8554872 344657 A6NIV6 ABBA01058703;ABBA01058704;AC078795;AMYH02008100;AMYH02008101;AMYH02008102;NM_001080460;XM_005247421;XM_006713613 A6NIV6;NP_001073929;XP_005247478;XP_006713676 Hs.319484 1334657 D3S3523 LRRC64 OTTHUMP00000226662;leucine rich repeat containing 64;leucine-rich repeat and IQ domain-containing protein 4;leucine-rich repeat-containing protein 64 protein-coding ENSG00000188306 HGNC:34298 PROVISIONAL 1345511 LRRN1 leucine rich repeat neuronal 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; arsenite(3-) 3 3 3 p26.2 3781602 3829467 + 3841121 3889708 + 3799437 3848024 + 6480464;8554872 10819331;11076863;12477932;12880961;12975309;14702039;15340161;15489334;15489336;16381901;18591937;20678249;21139048;23874384 57633 Q6UXK5 AB040930;AB074161;ABBA01020479;AC023484;AK023273;AK291717;AMYH02006172;AY358312;BC034947;CH471055;NM_020873;XM_005265351 AAH34947;AAQ88679;BAA96021;BAB14500;BAE45733;BAF84406;CAL37408;CAL38112;CAL38432;CAL38647;EAW63900;EAW63901;NP_065924;Q6UXK5;XP_005265408 Hs.163244 1669714;1696400;1696928;1723395;1724895 RH101933;RH118509;RH119212;RH48342;SHGC-77858 FIGLER3;KIAA1497;NLRR-1 OTTHUMP00000206968;fibronectin type III, immunoglobulin and leucine rich repeat domains 3;leucine-rich repeat neuronal protein 1;neuronal leucine-rich repeat protein 1 protein-coding ENSG00000175928 HGNC:20980 14320 VALIDATED 1603911 LRRIQ3 leucine-rich repeats and IQ motif containing 3 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; methyl methanesulfonate 1 1 1 p31.1 72737273 72909434 - 74491699 74663871 - 74026015 74198187 - 6480464;8554872 12477932;21057379;23247143;23503679;23934736;24250222 127255 A6PVS8;A6PVT2;A8MSG4;H0Y5F9 ABBA01074429;AC098692;AK131476;AL359205;AMYH02001267;BC020778;BC062795;BX647210;CH471059;NM_001105659;XM_005270451;XM_005270452;XM_005270453;XM_005270454;XM_006710352;XM_006710353 A6PVS8;AAH20778;AAH62795;BAD18621;EAX06418;EAX06419;EAX06420;EAX06421;EAX06422;EAX06423;NP_001099129;XP_005270508;XP_005270509;XP_005270510;XP_005270511;XP_006710415;XP_006710416 Hs.644625 1711004;1716857;1724939;1749803;1773898;2153913;5093916 A009Y47;G32999;RH119236;RH121722;SHGC-111542;SHGC-75034;SHGC-84880 LRRC44;MGC22773 OTTHUMP00000196434;leucine rich repeat containing 44;leucine-rich repeat and IQ domain-containing protein 3;leucine-rich repeat-containing protein 44 protein-coding ENSG00000162620 HGNC:28318 14485 PROVISIONAL 1313534 LRRN2 leucine rich repeat neuronal 2 The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 177721461 177789729 - 204586298 204654597 - 204617170 204685469 - 6480464 12477932;12975309;14702039;15489334;16710414;20379614;21988832;23535732;23535733;23722424;8401585;9662332 10446 O75325 ABBA01027438;ABBA01027439;AF030435;AK001246;AK024867;AK226055;AK312408;AL161793;AL512306;AL833565;AMYH02002538;AMYH02002539;AY358290;BC034047;BC068541;CH471067;NM_006338;NM_201630;T08293;XM_005244827;XM_006711115;XM_006711116 AAC39792;AAH34047;AAH68541;AAQ88657;ABM83316;ABM86531;BAG35321;BAG50878;EAW91520;EAW91521;EAW91522;NP_006329;NP_963924;O75325;XP_005244884;XP_006711178;XP_006711179 Hs.26312 FIGLER7;GAC1;LRANK1;LRRN5 OTTHUMP00000034222;OTTHUMP00000035083;OTTHUMP00000035084;fibronectin type III, immunoglobulin and leucine rich repeat domain 7;glioma amplified on chromosome 1 protein;leucine rich and ankyrin repeats 1;leucine rich repeat neuronal 5;leucine-rich repeat neuronal protein 2;leucine-rich repeat neuronal protein 5 APPROVED protein-coding ENSG00000170382 HGNC:16914 16109 605492 REVIEWED 1317516 LRRK1 leucine-rich repeat kinase 1 ENCODES a protein that exhibits identical protein binding; INVOLVED IN protein phosphorylation (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; mitochondrion; INTERACTS WITH all-trans-retinoic acid; arsenous acid; benzo[a]pyrene 15 15 15 q26.3 77872799 78023725 + 101459460 101610317 + 100919255 101070112 + 6480464;8554872 11347906;12477932;14654223;14702039;15489334;16243488;16572171;17225181;17324517;17353931;17394548;18029348;18045479;18272292;19380743;19712061;20697350;21963094;22337768;22952686;22988872;23291589;24241507;25011449;8125298;8889548 79705 E9PK39;E9PLF8;E9PMK9;H0YEW1;Q38SD2 AB058693;ABBA01020529;ABBA01020530;ABBA01020531;AC015712;AC090907;AK026772;AK054662;AK058028;AK094556;AK130975;AK131075;AK225575;AMYH02031166;AMYH02031167;AMYH02031168;AW592808;BC005408;BC018934;BC020379;BC066655;BC068080;BC110293;BC144705;BC146769;BC171802;BQ187037;CH471101;DQ013130;NM_024652;XM_005254979 AAH05408;AAH66655;AAH68080;AAI46770;AAI72446;AAY67799;BAB15547;BAB47419;BAC85125;BAC85472;BAG51407;BAG52887;EAX02287;EAX02288;EAX02289;NP_078928;Q38SD2;XP_005255036 Hs.407918 1644631;1675445;1740573;1775732;2107287;2116027;2159194;2180527 D10S1702;D15S1136;LRRK1__7334;RH44810;RH93536;SHGC-64945;STS-N32240;STS-Z40893 FLJ23119;FLJ27465;KIAA1790;RIPK6;Roco1 OTTHUMP00000230021;leucine-rich repeat serine/threonine-protein kinase 1 protein-coding ENSG00000154237 HGNC:18608 14319 610986 VALIDATED 1313178 LRRN4 leucine rich repeat neuronal 4 INVOLVED IN long-term memory (inferred); visual learning (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 20 20 20 p12.3 6092695 6105965 - 6021192 6034726 - 6040546 6054080 - 6480464;8554872 11780052;12477932;15342556;15489334;15870286;16189514;16344560;19448619;21984916 164312 Q6ZMD1;Q8WUT4 AA464555;ABBA01053897;AK172833;AK290123;AL035461;AL118505;AMYH02036654;BC019612;BC027720;BP252017;CH471133;DA737583;NM_152611 AAH27720;BAD18798;BAF82812;EAX10397;NP_689824;Q8WUT4 Hs.149133;Hs.741648;Hs.741928 C20orf75;FLJ23994;MGC25027;NLRR-4;NLRR4;dJ1056H1.1 OTTHUMP00000030221;leucine-rich repeat neuronal protein 4;neuronal leucine-rich repeat protein 4 protein-coding ENSG00000125872 HGNC:16208 12784 VALIDATED 1603349 LRRN4CL LRRN4 C-terminal like FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); potassium dichromate (ortholog); titanium dioxide (ortholog) 11 11 11 q12.3 59755691 59785570 - 62453874 62457371 - 62686402 62689899 - 6480464 12477932;12975309;23602568 221091 Q8ND94 ABBA01003237;ABBA01003238;AK291334;AL834319;AMYH02024896;AP001458;AY358354;BC053902;BQ678065;NG_033077;NM_203422 AAH53902;AAQ88720;BAF84023;CAD38988;NP_981967;Q8ND94 Hs.427449 1739963;1745985;2127309;2167540;5014051;5015619;5015961;5016700;5021872;5022322;5022651;5037552 D11S2560;D11S2921;D11S3114;D11S4063;D11S4928;D15S1477;D8S2278;D8S2279;RH125269;RH12527;RH79802;sY3084 MGC61707 LRRN4 C-terminal-like protein;OTTHUMP00000236221 protein-coding ENSG00000177363 HGNC:33724 17322 VALIDATED 1348771 LRRFIP1 leucine rich repeat (in FLII) interacting protein 1 ENCODES a protein that exhibits DNA binding; protein homodimerization activity; INVOLVED IN innate immune response (inferred); positive regulation of type I interferon production (inferred); regulation of transcription from RNA polymerase II promoter (inferred); FOUND IN cytoplasm; plasma membrane; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; (S)-nicotine 2 2 2 q37.3 232249255 232403327 + 238536224 238690290 + 237627581 237781647 + 1580863;6480464 10364563;10366446;12477932;14522076;14702039;15302935;15489334;15815621;16199883;16964243;16990252;17081983;19265123;20379614;20833976;21102652;22739583;22750095;22863883;22939629;23099021;23505185;24457600;24567534;24639526;24690174;24816145;8889548;9525888;9671805;9705290 9208 B4DPC0;C9JTC6;Q32MZ4 AA975133;ABBA01042594;ABBA01042595;AC012076;AC096574;AF115510;AJ223075;AK000884;AK298270;AK307485;AMYH02006065;AMYH02006066;AMYH02006067;AMYH02006068;BC001385;BC004958;BC010662;BC018883;BC019335;BC071618;BC083492;BC108913;BC108914;BE390005;BG699031;BU685896;CH471063;NM_001137550;NM_001137551;NM_001137552;NM_001137553;NM_004735;U69609;XM_005246112;XM_005246113;XM_005246114;XM_005246115;XM_005246116;XM_005246117;XM_005246118;XM_005246119;XM_005246120;XM_005246121;XM_005246122;XM_005246123;XM_005246124;XM_005246125;XM_005246126;XM_005246127;XM_005246128;XM_005246129;XM_005246130;XM_005246131;XM_005246132;XM_005246133;XM_005246134;XM_005246135;XM_005246136;XM_005246137;XM_005246138;XM_005246139;XM_005246140;XM_005246141;XM_005246142;XM_006712840;XM_006712841;XM_006712842;XM_006712843;XM_006712844;XM_006712845;XM_006712846;XM_006712847;XM_006712848;XM_006712849;XM_006712850 AAC32037;AAD41258;AAH01385;AAH10662;AAH19335;AAI08914;AAI08915;AAY14672;AAY14673;ACE86442;ACE87118;ACE87782;ACE87783;ACT64449;ACT64450;BAG60532;CAA11076;EAW71122;EAW71123;EAW71124;EAW71125;NP_001131022;NP_001131023;NP_001131024;NP_001131025;NP_004726;Q32MZ4;XP_005246169;XP_005246170;XP_005246171;XP_005246172;XP_005246173;XP_005246174;XP_005246175;XP_005246176;XP_005246177;XP_005246178;XP_005246179;XP_005246180;XP_005246181;XP_005246182;XP_005246183;XP_005246184;XP_005246185;XP_005246186;XP_005246187;XP_005246188;XP_005246189;XP_005246190;XP_005246191;XP_005246192;XP_005246193;XP_005246194;XP_005246195;XP_005246196;XP_005246197;XP_005246198;XP_005246199;XP_006712903;XP_006712904;XP_006712905;XP_006712906;XP_006712907;XP_006712908;XP_006712909;XP_006712910;XP_006712911;XP_006712912;XP_006712913 Hs.471779 1658194;1714489;1725431;1754551;1775799;1851173;1852535;2109487;2126550;2139946;2152721;2174537;5037552 D8S2279;LRRFIP1__6241;RH119111;RH119756;RH36116;RH36320;RH45754;RH68594;RH70121;SHGC-132833;SHGC-53062;SHGC-57018;WI-16831 FLAP-1;FLAP1;FLIIAP1;GCF-2;GCF2;HUFI-1;MGC10947;MGC119738;MGC119739;TRIP GC-binding factor 2;LRR FLII-interacting protein 1;NEDD8-conjugating enzyme;OTTHUMP00000164477;OTTHUMP00000164478;OTTHUMP00000196808;OTTHUMP00000196809;TAR RNA-interacting protein;leucine-rich repeat flightless-interacting protein 1;transcription factor 9-like protein-coding ENSG00000124831 HGNC:6702 04460 603256 VALIDATED 1351021 LRRTM1 leucine rich repeat transmembrane neuronal 1 INVOLVED IN exploration behavior (inferred); locomotory behavior (inferred); long-term synaptic potentiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN axon; endoplasmic reticulum; growth cone; INTERACTS WITH all-trans-retinoic acid; arsenite(3-); trichostatin A 2 2 2 p12 80357641 80360125 - 80515481 80531718 - 80288356 80304593 - 1580863;6480464;8554872 12477932;12676565;12975309;14702039;15489334;17667961;19125365;19125366;19125367;19626025;20678249;21041608;21708131;8125298 347730 C9JEE2;C9JF97;C9JPM9;Q86UE6 AA977181;ABBA01075679;AC016670;AK056644;AK225779;AK290512;AMYH02004132;AY182024;AY358310;BC045113;BI756350;CH471053;NM_178839;XR_244930;XR_244931 AAH45113;AAO67545;AAQ88677;ADR82640;BAB71240;BAF83201;EAW99566;EAW99567;NP_849161;Q86UE6 Hs.591580 1696082;1739287;2107289 D2S1942E;LRRTM1__7335;SHGC-79114 FLJ32082 OTTHUMP00000194829;OTTHUMP00000202791;OTTHUMP00000202801;OTTHUMP00000202802;OTTHUMP00000203402;OTTHUMP00000203403;OTTHUMP00000203404;leucine-rich repeat transmembrane neuronal 1 protein;leucine-rich repeat transmembrane neuronal protein 1 protein-coding ENSG00000162951 HGNC:19408 14323 610867 VALIDATED 1352645 LRRTM4 leucine rich repeat transmembrane neuronal 4 ENCODES a protein that exhibits heparan sulfate proteoglycan binding (inferred); INVOLVED IN alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (inferred); regulation of presynaptic membrane organization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (inferred); cell junction (inferred); postsynaptic membrane (inferred); INTERACTS WITH all-trans-retinoic acid; cadmium atom; hydroquinone O-beta-D-glucopyranoside 2 2 2 p12 76805254 77579821 - 76974849 77749502 - 76747723 77522376 - 1580863;6480464;8554872 12477932;12676565;12975309;14702039;15489334;16344560;20379614;20467438;23382691 80059 B3KV11;B8ZZ84;C9JM64;Q4KMX1;Q6ZT31;Q86VH4;Q9H9T0 ABBA01075631;ABBA01075632;ABBA01075633;ABBA01075634;ABBA01075635;ABBA01075636;ABBA01075637;ABBA01075638;ABBA01075639;ABBA01075640;ABBA01075641;ABBA01075642;ABBA01075643;ABBA01075644;AC013408;AC013716;AC016758;AC068048;AC068616;AC079117;AC079146;AC079614;AI079273;AK022630;AK122612;AK126961;AL353610;AMYH02004105;AMYH02004106;AMYH02004107;AMYH02004108;AMYH02004109;AMYH02004110;AMYH02004111;AMYH02004112;AY182030;AY358324;BC017769;BC098267;BC098301;BC099738;BC110058;CH471053;DB305042;DB366645;NM_001134745;NM_001282924;NM_001282928;NM_024993 AAH17769;AAH98267;AAH98301;AAH99738;AAI10059;AAO67551;AAQ88690;BAB14141;BAC86764;BAG53623;EAW99585;NP_001128217;NP_001269853;NP_001269857;NP_079269;Q86VH4 Hs.285782 1655205;1666806;1696034;1696036;1705436;1711038;1716047;1718175;1721881;1734878;1747645;1761385;1765317;1776167;1778985;1784314;2107291;2114750;2121402;2133147;2190933 1460;D2S1637E;D2S1774;D2S2714;G59971;G65482;LRRTM4__7336;MARC_11727-11728:1029181145:1;RH120962;RH122856;RH45848;RH66713;RH67975;SHGC-145401;SHGC-148810;SHGC-81647;SHGC-83183;SHGC-83192;SHGC-83799;SHGC-86146;STS-F04951 FLJ12568;MGC120633;MGC120636 OTTHUMP00000202553;OTTHUMP00000202554;OTTHUMP00000202556;leucine-rich repeat transmembrane neuronal 4 protein;leucine-rich repeat transmembrane neuronal protein 4 protein-coding ENSG00000176204 HGNC:19411 11288 610870 VALIDATED 1314733 LRRFIP2 leucine rich repeat (in FLII) interacting protein 2 ENCODES a protein that exhibits LRR domain binding; INVOLVED IN Wnt signaling pathway (inferred); ASSOCIATED WITH Colorectal Neoplasms, Hereditary Nonpolyposis (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; afimoxifene 3 3 3 p22.2 37036882 37151380 - 37094117 37217992 - 37052626 37176501 - 1580863;6480464;8554872 10366446;12477932;14702039;15489334;15677333;16344560;17081983;17110338;19265123;19322201;20360068;20379614;21220426;21785361;23036196;23398456;23942110;24816145 9209 A8MXR0;C9J0U5;C9J321;C9JC17;C9JJC9;C9JSU1;H7C3N9;Q9Y608 ABBA01024854;ABBA01024855;ABBA01024856;ABBA01024857;ABBA01024858;AC006583;AC126118;AF115509;AK000255;AK024692;AK026336;AK124432;AK291514;AK302282;AMYH02006554;AMYH02006555;BC053668;BX648794;CH471055;CR749705;DB033703;DC336346;NM_001134369;NM_001282691;NM_006309;NM_017724;R27776;XM_005265538;XM_005265539;XM_005265540;XM_005265550;XM_005265551;XM_005265553;XM_005265554;XM_005265555;XM_005265556;XM_005265557;XM_006713385;XM_006713386;XM_006713387;XM_006713388;XM_006713389;XM_006713390;XM_006713391;XM_006713392;XM_006713393;XM_006713394;XM_006713395;XM_006713396;XM_006713397;XM_006713398;XM_006713399;XM_006713400;XM_006713401;XM_006713402;XM_006713403;XM_006713404 AAD41257;AAH53668;BAA91035;BAF84203;BAG63625;CAH18481;EAW64486;EAW64487;EAW64488;EAW64489;EAW64490;EAW64491;NP_001127841;NP_001269620;NP_006300;NP_060194;Q9Y608;XP_005265595;XP_005265596;XP_005265597;XP_005265607;XP_005265608;XP_005265610;XP_005265611;XP_005265612;XP_005265613;XP_005265614;XP_006713448;XP_006713449;XP_006713450;XP_006713451;XP_006713452;XP_006713453;XP_006713454;XP_006713455;XP_006713456;XP_006713457;XP_006713458;XP_006713459;XP_006713460;XP_006713461;XP_006713462;XP_006713463;XP_006713464;XP_006713465;XP_006713466;XP_006713467 Hs.740522 1660820;1712190;1745989;1772706;2108219;2138908;2141749;2160965;2163620;2179360 D3S4239;G54146;LRRFIP2_8913;RH125441;RH16680;RH66477;RH66486;STS-N68834;STS-W88502;WI-19620 DKFZp434H2035;FLJ20248;FLJ22683;FLJ58304;HUFI-2 LRR FLII-interacting protein 2;OTTHUMP00000161359;OTTHUMP00000161360;OTTHUMP00000208871;OTTHUMP00000208872;OTTHUMP00000208873;leucine-rich repeat flightless-interacting protein 2 protein-coding ENSG00000093167 HGNC:6703 10061 614043 VALIDATED 1342647 LRS1 Larsen syndrome 1 (autosomal dominant) ASSOCIATED WITH Atelosteogenesis, type 1 (inferred); ATELOSTEOGENESIS, TYPE III (inferred); Boomerang dysplasia (inferred) 7240710 7485161 4044 HGNC:6704 108720;108721;112310;150250;272460 1345909 LRRTM2 leucine rich repeat transmembrane neuronal 2 ENCODES a protein that exhibits neurexin family protein binding (inferred); INVOLVED IN long-term synaptic potentiation (inferred); negative regulation of receptor internalization (inferred); synapse organization (inferred); FOUND IN cell junction (inferred); excitatory synapse (inferred); integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cisplatin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 5 5 5 q31.2 134326860 134332826 - 138205079 138211057 - 138869390 138875368 - 1580863;6480464 12477932;12676565;15489334;16344560;19240791;21708131;9455477 26045 B7Z4G4;E5RHE5;E5RIQ2;O43300 AB007876;ABBA01068653;AC011405;AK291064;AK297332;AK309790;AMYH02012308;AY182026;BC028172;BC126408;BC126410;BC143926;CH471062;DA400927;NM_015564 AAI26409;AAI26411;AAI43927;AAO67547;ADR83048;BAA24846;BAF83753;BAH12550;EAW62125;NP_056379;O43300 Hs.656653 1654738;1688221;2147993;2159620;2174861;2191049;5493881 A002T30;D5S1856;Lrrtm2;MARC_13807-13808:1006870442:1;RH91185;SHGC-2340;WI-17966 FLJ76283;FLJ99831 OTTHUMP00000224214;OTTHUMP00000224215;OTTHUMP00000224216;leucine-rich repeat neuronal 2 protein;leucine-rich repeat transmembrane neuronal 2 protein;leucine-rich repeat transmembrane neuronal protein 2 protein-coding ENSG00000146006 HGNC:19409 17454 610868 VALIDATED 1343012 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012] 9 9 9 q33.3 100864640 100916667 + 130213765 130265780 + 127451486 127503501 + 737633;6480464;8699517;7240710;8554872 12477932 12975309;14635195;14702039;15164053;15256501;15489334;16169070;16344560;16713569;16808324;18029348;18077552;19542561;19549727;19690564;20301462;20301532;20616063;20865121;21044950;21078624;21139048;21890473;21906983;21987572;22012984;22493164;22781092;22863883;22939624;22939629;23105109;23245322;24816145;7757816 90678 Q6UWE0 ABBA01043833;AF086398;AI364608;AK056203;AK056305;AK091589;AK097094;AK226106;AL445222;AMYH02021683;AMYH02021684;AMYH02021685;AMYH02021686;AMYH02021687;AY358830;BC009239;CH471090;DA165729;DA393757;DA726792;DB165274;DB309230;NG_032008;NM_001005373;NM_001005374;NM_001190723;NM_138361;XM_006717316;XR_242606;Z44095 AAH09239;AAQ89189;BAB71119;BAB71144;BAC03703;EAW87671;EAW87672;EAW87673;EAW87674;NP_001005373;NP_001005374;NP_001177652;NP_612370;Q6UWE0;XP_006717379 Hs.495188 1339158;1665273 A008L27;D9S904 CMT2P;FLJ31641;TAL E3 ubiquitin-protein ligase LRSAM1;OTTHUMP00000022173;OTTHUMP00000022174;OTTHUMP00000022175;RIFLE;Tsg101-associated ligase;leucine-rich repeat and sterile alpha motif-containing protein 1 APPROVED protein-coding ENSG00000148356 HGNC:25135 14325 610933;614436 REVIEWED 1606530 LRTM1 leucine-rich repeats and transmembrane domains 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; (2,4,5-trichlorophenoxy)acetic acid (ortholog); 17beta-estradiol (ortholog) 3 3 3 p14.3 54918491 54928203 - 54952264 55001115 - 54918237 54967088 - 6480464 10931946;12477932;15489334;17081983;24315451 57408 Q9HBL6 ABBA01024460;AC092797;AC109584;AF225421;AMYH02006839;BC040732;BC074741;CH471055;NM_020678;XM_005265337 AAG09723;AAH40732;AAH74741;EAW65305;EAW65306;NP_065729;Q9HBL6;XP_005265394 Hs.591668 1337433;2110465;2159403 D3S1613;HT017__7511;RH78885 HT017 OTTHUMP00000213116;leucine-rich repeat and transmembrane domain-containing protein 1 protein-coding ENSG00000144771 HGNC:25023 13718 PROVISIONAL 734364 LRRN3 leucine rich repeat neuronal 3 ENCODES a protein that exhibits protein complex binding (inferred); INVOLVED IN positive regulation of protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN clathrin adaptor complex (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; atrazine 7 7 7 q31.1 105543350 105577801 + 110731062 110765510 + 111091006 111125454 + 1580863;6480464;8554872 11549284;12477932;12975309;14702039;15489334;16344560;20379614;20678249;21908575 54674 A4D0T1;E7EW58;Q9H3W5;Q9NUU4 AB060967;ABBA01057864;AC004142;AF134481;AK001991;AK292556;AL442092;AMYH02016568;AY358280;BC035133;CH236947;CH471070;CR457397;CS265753;DA494543;DB095402;JA738665;JA738667;JA738669;NG_030016;NM_001099658;NM_001099660;NM_018334 AAH35133;AAP97258;AAQ88647;ADZ15603;BAA92025;BAB47184;BAF85245;CAC09450;CAG33678;CAJ78398;CCF76985;CCF76986;CCF76987;EAL24380;EAW83449;EAW83450;NP_001093128;NP_001093130;NP_060804;Q9H3W5 Hs.3781 1670003;1675114;1700912;1850362;2173136;2173138;2178479 A001X05;AFM191yc5;D7S2117E;G19737;RH104083;RH47469;STS-AA025228 FIGLER5;FLJ11129;NLRR-3;NLRR3 OTTHUMP00000207165;OTTHUMP00000207166;OTTHUMP00000207167;fibronectin type III, immunoglobulin and leucine rich repeat domains 5;leucine-rich repeat neuronal protein 3;leucine-rich repeat protein, neuronal 3;neuronal leucine-rich repeat protein 3 protein-coding ENSG00000173114 HGNC:17200 14321 VALIDATED 5144647 LSAMP-AS1 LSAMP antisense RNA 1 3 116078871 116088932 + 100506708 XR_108470;XR_133350 APPROVED ncrna HGNC:40350 1347242 LSAMP limbic system-associated membrane protein The protein encoded by this gene is a neuronal surface glycoprotein found in cortical and subcortical regions of the limbic system. During development of the limbic system, this encoded protein is found on the surface of axonal membranes and growth cones, where it acts as a selective homophilic adhesion molecule, and guides the development of specific patterns of neuronal connections. [provided by RefSeq, Jul 2008] 3 3 3 q13.2-q21 113929271 114572430 - 115521210 116164385 - 115802363 116445538 - 1580863;6480464;8554872 12477932;14667507;14702039;15146195;15489334;17500595;18268500;18318786;18433483;19441093;19724913;20379614;21982860;22892717;8666243;9615236 4045 C9J5G3;F5H5G1;H3BLU2;Q13449 ABBA01061613;ABBA01061614;ABBA01061615;ABBA01061616;ABBA01061617;ABBA01061618;ABBA01061619;ABBA01061620;ABBA01061621;ABBA01061622;AC012598;AC021657;AC067725;AC078784;AC078805;AC078813;AC084408;AK091573;AK092715;AK094535;AK299851;AK315286;AMYH02007468;AMYH02007469;AMYH02007470;AMYH02007471;AMYH02007472;AMYH02007473;AMYH02007474;AMYH02007475;AMYH02007476;AMYH02007477;BC033803;BC041405;BC045591;BM041903;CH471052;NM_002338;U41901;XM_005247454;XM_006713638 AAC50569;AAH33803;ABM83025;ABM86218;BAG37695;BAH13147;EAW79588;EAW79589;EAW79590;EAW79591;NP_002329;Q13449;XP_005247511;XP_006713701 Hs.26409;Hs.723683 1336068;1338665;1646791;1654784;1655755;1655757;1657864;1660485;1664932;1695224;1695520;1705648;1706750;1709474;1722577;1724293;1726479;1735238;1735332;1753943;1758857;1773581;2111089;2116536;2118809;2120223;2121597;2127220;2142308;2147220;2153162;2156610;2163604;2165594;2169299;2171750;2174582;2174584;2191205;5094434;7187083 2118;A005K02;A006D03;AF020123;D3S1502E;D3S1579;D3S2904E;D3S2958E;D3S3420;D3S3529;D3S3535;G09430;G16561;G16587;G20276;G20714;G54795;G60220;G62619;HSCZWD042;MARC_16134-16135:1018552266:3;RH119071;RH68489;SGC34765;SHGC-13245;SHGC-151002;SHGC-62929;SHGC-68406;SHGC-77221;SHGC-77226;SHGC-77227;SHGC-80838;SHGC-81789;SHGC-83397;SHGC-89376;STS-H47384;STS-N30425;STS-Z40445;WI-12484;WI-22395 FLJ34254;FLJ35396;FLJ37216;FLJ54658;IGLON3;LAMP IgLON family member 3;OTTHUMP00000214774;OTTHUMP00000214775 APPROVED protein-coding ENSG00000185565 HGNC:6705 09128 603241 REVIEWED 1605448 LRTM2 leucine-rich repeats and transmembrane domains 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 12 12 12 p13.33 3537149 3553636 + 1929433 1945919 + 1820267 1836753 + 6480464;8554872 12477932;14702039;16344560;23942779 654429 F5GZY9;F5H2B4;Q8N967 ABBA01048815;ABBA01048816;AC005343;AK095610;AK124687;AK125402;AK126866;AMYH02025877;AMYH02025878;BC036868;BC129997;BC146894;BC146910;BC150567;BC150568;BX115405;CH471116;DA336140;DA418133;NG_012663;NM_001039029;NM_001163925;NM_001163926;XM_006719010 AAI46895;AAI46911;AAI50569;BAC04589;BAC86158;BAG54068;EAW88921;EAW88922;NP_001034118;NP_001157397;NP_001157398;Q8N967;XP_006719073 Hs.585579 FLJ42697 OTTHUMP00000237869;OTTHUMP00000237870;leucine-rich repeat and transmembrane domain-containing protein 2 protein-coding ENSG00000166159 HGNC:32443 VALIDATED 1312552 LRRTM3 leucine rich repeat transmembrane neuronal 3 INVOLVED IN positive regulation of beta-amyloid formation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction (inferred); integral component of membrane (inferred); postsynaptic membrane (inferred); INTERACTS WITH aflatoxin B1; phenobarbital; bisphenol A (ortholog) 10 10 10 q21.3 61961031 62136119 + 68685792 68861309 + 66926034 67101109 + 1580863;6480464;8554872 12477932;12676565;12975309;15489334;16344560;17098871;19105203;20678249;21598020;22393166;22710909;23750206 347731 Q86VH5 ABBA01019540;ABBA01019541;AC022401;AC069536;AK290168;AK294029;AL139240;AMYH02023238;AMYH02023239;AMYH02023240;AY182028;AY358315;BC111492;BC113715;BC113717;BU154601;BX640611;CH471083;DB029785;NG_034072;NM_178011;NR_111909;XR_246122;XR_247527;XR_252756 AAI11493;AAI13716;AAI13718;AAO67549;AAQ88681;ADR83071;BAF82857;BAG57384;CAE45717;EAW54253;NP_821079;Q86VH5 Hs.652155;Hs.712279 1667189;1706740;1707460;1713667;1764027;1775958;2106807;2150040;2186125 CGR167;HSC1UA032;RH120716;SHGC-147682;SHGC-80827;SHGC-84525;STS-AA009437;STS-Z39591;WI-22233 MGC131810 OTTHUMP00000019682;OTTHUMP00000019683;leucine-rich repeat transmembrane neuronal protein 3 protein-coding HGNC:19410 14324 610869 VALIDATED 7207650 LSINCT5 long stress-induced non-coding transcript 5 p15.33 20214974;21532345;23359273 101234261 GU228577 protein-coding HGNC:37824 615764 1603534 LRWD1 leucine-rich repeats and WD repeat domain containing 1 ENCODES a protein that exhibits chromatin binding; methyl-CpG binding; methylated histone binding; INVOLVED IN chromatin organization; establishment of protein localization to chromatin; ASSOCIATED WITH Melanoma (inferred); FOUND IN nuclear origin of replication recognition complex; nucleus; pericentric heterochromatin; INTERACTS WITH (+)-catechin; copper(2+) sulfate; menadione 7 7 7 q22.1 97117725 97125881 + 102105335 102113615 + 102464888 102473168 + 6480464;8554872 12477932;15302935;16751776;20180869;20360068;20850016;20932478;21139048;22427655;22645314;22935713;22939629;24250222;24778252;24816145 222229 F8WBP5;F8WDB4;H7C4Q9;H7C5N7;H7C5S6;Q9UFC0 AB209379;ABBA01011281;AC093668;AC244503;AK290967;AK313771;AL133057;BC009436;BC018769;BC030547;CH471197;NM_152892;XM_005250203;XM_005250204 AAH09436;AAH18769;AAH30547;BAD92616;BAF83656;BAG36509;CAB61382;EAW50250;NP_690852;Q9UFC0;XP_005250260;XP_005250261 Hs.274135 1651984;1654313;5022578;5109281 D1S1423;D1S1425;STS-H73947;STS-L37127 CENP-33;DKFZp434K1815;ORCA ORC-associated;OTTHUMP00000212406;centromere protein 33;leucine-rich repeat and WD repeat-containing protein 1;origin recognition complex associated;origin recognition complex-associated protein protein-coding ENSG00000161036 HGNC:21769 10904 615167 PROVISIONAL 1602965 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing This gene includes two transcript forms. The short form has one open reading frame (ORF), which encodes the leucine-rich repeats (LRR)-containing protein of unknown function. This protein is called LRTOMT1 or LRRC51. The long form has two alternative ORFs; the upstream ORF has the same translation start codon as used in the short form and the resulting transcript is a candidate for nonsense-mediated decay, and the downstream ORF encodes a different protein, which is a transmembrane catechol-O-methyltransferase and is called LRTOMT2, TOMT or COMT2. The COMT2 is essential for auditory and vestibular function. Defects in the COMT2 can cause nonsyndromic deafness. Alternatively spliced transcript variants from each transcript form have been found for this gene. [provided by RefSeq, Sep 2012] 11 11 11 q13.4 69093343 69123775 + 71791377 71821828 + 72080331 72110782 + 6480464;7240710;8554872;8699517 12477932;15489334;16344560;17066295;17166180;17211611;18794526;18953341;19322201;20301607;21739586;23053991 220074 C9JDG7;F5GYI0;F5H0M6;F5H614;F5H6F7;F5H6K5;F8WBA5;Q8WZ04;Q96E66 ABBA01017542;AF289588;AK298997;AK302772;AK311690;AK313150;AK315892;AMYH02025075;AP000812;AP002490;BC012855;BC035223;BX115135;CH471076;DA151871;DA637921;DA664751;EU627066;EU627067;EU627068;EU627069;EU627070;NG_021423;NM_001145307;NM_001145308;NM_001145309;NM_001145310;NM_001205138;NM_001271471;NM_145309;NR_026886;XM_006718471;XM_006718472;XM_006718473;XM_006718474 AAH12855;AAL55772;ACF40876;ACF40877;ACF40878;ACF40879;ACF40880;BAF98783;BAG35968;BAH12920;BAH13802;EAW74832;EAW74833;EAW74834;EAW74835;NP_001138779;NP_001138780;NP_001138781;NP_001138782;NP_001192067;NP_001258400;NP_660352;Q8WZ04;Q96E66;XP_006718534;XP_006718535;XP_006718536;XP_006718537 Hs.317243;Hs.667985 1667195;1683379;1737631;1774463;1847699;1851895;1857281;2146328;2148684;2148686;2155819;2191507;5014051;5015861;5020948;5022200;5022578;5022651;5024039;5037552;5109281;7185938 A002T20;A005V05;D10S16;D11S2238E;D11S2921;D11S3230;D11S4065;D11S4284;D16S325;D1S1423;D1S1425;D8S2278;D8S2279;G20526;G35510;L18426;MARC_24275-24276:1044473527:2;RH44914;RH92229;WI-13701;WI-14272 CFAP111;COMT2;DFNB63;FLJ52451;LRRC51;LRTOMT1;LRTOMT2 OTTHUMP00000206871;OTTHUMP00000206872;OTTHUMP00000206873;OTTHUMP00000206874;OTTHUMP00000236840;OTTHUMP00000236841;OTTHUMP00000236843;OTTHUMP00000237056;catechol O-methyltransferase 2;leucine rich repeat containing 51;leucine rich transmembrane and 0-methyltransferase domain containing;leucine-rich repeat-containing protein 51;transmembrane O-methyltransferase APPROVED protein-coding ENSG00000184154 HGNC:25033 11839 611451;612414 REVIEWED 1350873 LSM10 LSM10, U7 small nuclear RNA associated ENCODES a protein that exhibits histone pre-mRNA DCP binding (ortholog); INVOLVED IN positive regulation of G1/S transition of mitotic cell cycle; FOUND IN Cajal body; nucleus; U7 snRNP; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; disodium selenite 1 1 1 p34.3 35134165 35138630 - 36859031 36863493 - 36393430 36397892 - 1580863;6480464 10207079;11574479;11782445;12477932;12975319;15188402;15231747;15489334;16087681;16189514;16914750;19060904;19277982;19928837 84967 Q7Z2T2;Q969L4 ABBA01023298;AC119675;AF166092;AF394685;AMYH02000785;AMYH02000786;BC007623;CH471059;NM_032881 AAH07623;AAL07689;AAQ13594;EAX07367;NP_116270;Q969L4 Hs.603131 1647672;1766349;2185594 AL010116;SHGC-149690;SHGC-74607 MGC15749;MST074;MSTP074 OTTHUMP00000009845;U7 snRNA-associated Sm-like protein LSm10;U7 snRNP-specific Sm-like protein LSM10 protein-coding ENSG00000181817 HGNC:17562 14326 PROVISIONAL 1605064 LSG1 large 60S subunit nuclear export GTPase 1 This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.[provided by RefSeq, Feb 2009] 3 3 3 q29 192777382 192808648 - 194361517 194393206 - 194640788 194672477 - 6480464;6907045;8554872 10737800;11076863;11230166;11256614;12477932;14702039;15489336;16209721;16344560;16381901;18029348;19946888;21139048;21906983;23000965;24654937;24778252;24816145;8125298 55341 F8WFC6;H7C2X7;Q9H089 ABBA01001621;ABBA01001622;ABBA01001623;AC046143;AK002163;AK130804;AK225094;AL136897;AMYH02008455;AW748476;BC015042;BC040119;BC058891;BC068500;BQ009975;CH471052;DA101432;DA414880;NM_018385 AAH15042;AAH40119;AAH68500;BAA92116;CAB66831;CAL37455;EAW78035;EAW78036;EAW78037;EAW78038;EAW78039;NP_060855;Q9H089 Hs.744061 1655503;1655505;1683257;2141742;5022578;5037552 D1S1423;D8S2279;RH16567;SHGC-33507;SHGC-67649;STS-AA010049 FLJ11301;FLJ27294;hLsg1 OTTHUMP00000209073;large subunit GTPase 1 homolog APPROVED protein-coding ENSG00000041802 HGNC:25652 07748 610780 REVIEWED 1312715 LSM1 LSM1, U6 small nuclear RNA associated This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Nov 2011] 8 8 8 p11.2 36973393 36986562 - 38020839 38034248 - 38163321 38176730 - 1580863;6480464 10369684;10523320;10851237;11920408;11953827;12477932;12515382;14667819;15231747;15342556;15489334;16147992;16699599;16756390;17001308;17178857;18172165;18218995;18559850;20379614;21139048;21788678;22037555;22863883;22939629;24035562;24250222;8980254;9230209 27257 E5RH18;E5RJ47;O15116 ABBA01023548;ABBA01023549;ABBA01023550;AC084024;AF000177;AF147348;AJ238094;AK312159;AMYH02017826;BC001767;BE670269;BP376421;BU521199;BU941962;CH471080;HC879396;HD033105;NM_014462;NR_045492;NR_045493 AAB62189;AAH01767;BAG35093;CAB45865;CBM42914;CBV35647;EAW63332;EAW63333;NP_055277;O15116 Hs.425311 2124735;2152372;2165596 D8S2102;RH46977;STS-T10665 CASM;YJL124C LSM1 homolog, U6 small nuclear RNA associated;OTTHUMP00000225703;OTTHUMP00000225704;U6 snRNA-associated Sm-like protein LSm1;cancer-associated Sm-like;small nuclear ribonuclear CaSm APPROVED protein-coding ENSG00000175324 HGNC:20472 06281 607281 REVIEWED 1354131 LSM11 LSM11, U7 small nuclear RNA associated ENCODES a protein that exhibits U7 snRNA binding; INVOLVED IN positive regulation of G1/S transition of mitotic cell cycle; histone mRNA 3'-end processing (ortholog); FOUND IN nucleus; U7 snRNP; histone pre-mRNA 3'end processing complex (ortholog); INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; diarsenic trioxide 5 5 5 q33.3 153197357 153210338 + 157170755 157183746 + 157743747 157756738 + 737633;6480464 12477932 11574479;12975319;14702039;15489334;16087681;16714279;16914750;18029348;19322201;19928837;22939629;23071092;24250222;24816145 134353 P83369 ABBA01044264;AC026407;AK095592;AMYH02012556;BC051353;BC126449;CH471062;NM_173491 AAH51353;AAI26450;BAC04581;EAW61589;NP_775762;P83369 Hs.631954 2107293;2149814;5022200;5037552 AFMa205yh9;D8S2279;L18426;LSM11__7339 FLJ38273 2210404M20Rik;LSM11 homolog, U7 small nuclear RNA associated;OTTHUMP00000160748;U7 snRNA-associated Sm-like protein LSm11 protein-coding HGNC:30860 11289 PROVISIONAL 1642112 LSM12P1 LSM12 pseudogene 1 8 8 8 p12 34331214 34333388 - 35381097 35383292 - 35523579 35525774 - 11181995 653122 ABBA01023585;AC013302;AMYH02017790;CH471080;NG_005566 EAW63386 1728975;1745983 D5Bwg0676e;RH125247 LSM12P APPROVED pseudo HGNC:32453 INFERRED 1606981 LSM12 LSM12 homolog (S. cerevisiae) INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chloroprene (ortholog) 17 17 17 q21.31 38820096 38853084 - 42112003 42144987 - 44034635 44067619 - 6480464 12477932;14702039;15225602;16169070;16196087;17353931;19738201;20020773;21139048;21145461;21890473;21906983;22190034;22939629;22990118;24130170;24250222;24778252;24816145 124801 K7ELG9;Q3MHD2 ABBA01028388;ABBA01028389;ABBA01028390;ABBA01028391;ABBA01028392;AC023855;AF277193;AK055218;AK300637;AL832076;AMYH02033467;AMYH02033468;AMYH02033469;BC016791;BC044587;BC066298;BC105288;CH471178;KF456277;NM_152344 AAH44587;AAI05289;BAB70877;BAG62326;EAW51639;NP_689557;Q3MHD2 Hs.355570 1728975;1733370;1745983 D17S1184;D5Bwg0676e;RH125247 FLJ30656;MGC104211;PNAS-135 protein LSM12 homolog protein-coding ENSG00000161654 HGNC:26407 08701 611793 VALIDATED 1351489 LSM14B LSM14B, SCD6 homolog B (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN multicellular organismal development (inferred); regulation of translation (inferred); FOUND IN ribonucleoprotein complex (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; methylmercury chloride 20 20 20 q13.33 57432693 57445609 + 60697517 60710434 + 62122460 62135378 + 6480464 11780052;12477932;14702039;15489334;16169070;16344560;18976975;21139048;21906983;22053931;22505724;23000965;24163370;24250222;24639526;24778252;24816145 149986 Q5TBP9;Q5TBQ0;Q5TBQ1;Q9BX40 ABBA01040106;AF165185;AF172328;AK058202;AK298748;AL078633;AL137077;AMYH02037414;BC035702;BC054888;BC057387;BM547301;BX370449;BX375905;CH471077;CX166280;DB336439;NM_144703;XM_005260302;XM_005260303;XM_006723715 AAD46654;AAD52585;AAH57387;BAB71714;BAG60891;EAW75401;EAW75402;EAW75403;EAW75404;EAW75405;NP_653304;Q9BX40;XP_005260359;XP_005260360;XP_006723778 Hs.105379 1679812 RH92552 C20orf40;FAM61B;FLJ25473;FT005;LSM13;MGC61931;RAP55B;bA11M20.3;hRAP55B LSM14 homolog B;OTTHUMP00000031461;OTTHUMP00000031463;Putative uncharacterized protein C20orf40;RNA-associated protein 55B;chromosome 20 open reading frame 40;family with sequence similarity 61, member B protein-coding ENSG00000149657 HGNC:15887 12768 VALIDATED 1353141 LRRK2 leucine-rich repeat kinase 2 This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008] 12 12 12 q12 39422059 39566110 + 40618813 40763087 + 40225011 40369285 + 5508408;5508405;5508406;5508410;5508417;5508418;5508419;5508399;5508401;5508404;5508407;5508409;5508414;5508416;5508420;5508415;6480464;6907045;7240710;8554872;8699517 17082220;17639429;20669305;20720502;20721916;20729864;20818610;21159540;21167764;21280089;21375368;21483109;21796139;21954089;21983832;21989859 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396 120892 C9JBF0;E9PC85;H7C3B6;Q17RV3;Q5S007 ABBA01031368;ABBA01031369;ABBA01031370;AC079630;AC084290;AC107023;AK026776;AK122640;AK127729;AK131537;AL832453;AL834529;AMYH02026337;AMYH02026338;AY792511;BC117180;BM285390;BR000408;BU634341;BX640975;CN294292;NG_011709;NM_198578;XM_005268629 AAI17181;AAV63975;CAD39185;CAE45989;FAA00322;NP_940980;Q5S007;XP_005268686 Hs.187636 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AURA17;PARK8;RIPK7;ROCO2 DARDARIN;OTTHUMP00000179167;augmented in rheumatoid arthritis 17;leucine-rich repeat serine/threonine-protein kinase 2 APPROVED protein-coding ENSG00000188906 HGNC:18618 607060;609007 REVIEWED 6893098 LSM3P1 LSM3 pseudogene 1 17 17 17 q 42742770 42743493 - 46288425 46289148 - 48211280 48211786 - 100303748 ABBA01041162;AC027152;AMYH02033539;NG_012904 APPROVED pseudo HGNC:44346 INFERRED 6893099 LSM3P2 LSM3 pseudogene 2 12 12 12 q 94655729 94656364 + 94984514 94985154 + 94590738 94591378 + 100303745 ABBA01053361;AC026672;AMYH02026956;NG_012901 APPROVED pseudo HGNC:44347 INFERRED 1350592 LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 19. [provided by RefSeq, Nov 2011] 6 6 6 p21.3 33363418 33372989 - 31765169 31774761 - 31797392 31806984 - 1580863;6480464;6907045;8554872 10523320;10601333;10851237;10931946;11275683;11920408;11971955;11991638;12226669;12477932;12515382;14656967;14667819;15231747;15342556;15489334;15592455;16169070;16189514;17620012;17643375;18095154;18781797;19471022;19615732;19851445;19913121;20628086;21139048;22365833;22863883;22939629;23667531;24056301;24250222;24816145;8428774 57819 Q9Y333 ABBA01038086;AF134726;AF136977;AF182288;AF196468;AI570628;AJ245416;AL662834;AL671762;AL929592;AMYH02013455;BA000025;BC009192;BP203102;BU189898;CH471081;CR542146;CR542157;CR759787;CR759915;CR925765;NM_021177 AAD21818;AAD56226;AAG33023;AAG49438;AAH09192;ABM83829;ABM87538;BAB63302;CAB52190;CAG46943;CAG46954;EAX03525;EAX03526;NP_067000;Q9Y333 Hs.103106 1697904;2140943 RH102480;STS-AA035265 C6orf28;G7b;YBL026W;snRNP OTTHUMP00000029159;U6 snRNA-associated Sm-like protein LSm2;small nuclear ribonuclear protein D homolog;snRNP core Sm-like protein Sm-x5 APPROVED protein-coding ENSG00000204392 HGNC:13940 06282 607282 REVIEWED 6893069 LSM3P3 LSM3 pseudogene 3 2 2 2 p11.2 85157246 85158105 - 85328963 85329822 - 85101840 85102699 - 647302 ABBA01075736;AC011236;AMYH02004170;NG_012903 APPROVED pseudo HGNC:44348 INFERRED 6892981 LSM3P4 LSM3 pseudogene 4 4 4 4 q31.21 140569006 140569566 + 143238367 143238927 + 142317214 142317774 + 9847074 100130178 ABBA01069992;AC093860;AMYH02010225;NG_012902 APPROVED pseudo HGNC:44349 INFERRED 6893100 LSM3P5 LSM3 pseudogene 5 16 16 16 q 62689525 62690062 + 78389391 78389957 + 78355494 78356060 + 100303743 ABBA01017020;AC109134;AMYH02032439;NG_012900 APPROVED pseudo HGNC:44350 INFERRED 1314318 LSM3 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004] 3 3 3 p25.1 14158457 14178097 + 14220228 14239869 + 14178728 14198369 + 6480464;6907045 10369684;10523320;10851237;11920408;11991638;12477932;12515382;14667819;15231747;15489334;16169070;16344560;17643375;18187620;19060904;21139048;21988832;22365833;22623428;22939629;23443559;23463506;23667531 27258 P62310 ABBA01025161;AC093495;AF182289;AF182418;AJ238095;AK312189;AMYH02006318;BC007055;CH471055;CR457185;DB289601;DB499707;NM_014463 AAD56227;AAG14954;AAH07055;BAG35122;CAB45866;CAG33466;EAW64190;NP_055278;P62310 Hs.111632 SMX4;USS2;YLR438C OTTHUMP00000160275;U6 snRNA-associated Sm-like protein LSm3 APPROVED protein-coding HGNC:17874 06283 607283 VALIDATED 3051011 LSM6P2 LSM6 pseudogene 2 12 12 12 48960678 48960854 + 50164743 50164919 + 49770960 49771136 + 100462857 ABBA01031534;AC131157;AMYH02026448;NG_021717 APPROVED pseudo HGNC:37811 INFERRED 8548312 LSM1P1 LSM1, U6 small nuclear RNA associated pseudogene 1 9 9 p22.2 16775228 16775741 - 16775230 16775743 - 100820732 ABBA01065255;AL162418;AMYH02019223;NG_030485 pseudo HGNC:49776 INFERRED 1313874 LSM14A LSM14A, SCD6 homolog A (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008] 19 19 19 q13.11 31356940 31413990 + 34663352 34720420 + 34172447 34229515 + 737633;6480464;8554872 12477932 14702039;15489334;15851029;16484376;17074753;17081983;18029348;18723115;19322201;20360068;21139048;22053931;22113938;22614839;22745163;22939629;22973032;23000965;24163370;24816145 26065 B4DTG6;I3L4Q1;K7EMZ9;Q8ND56 AB069974;AB069975;ABBA01004323;ABBA01004324;ABBA01004325;AC010614;AC210437;AK027369;AK027643;AK127401;AK300208;AL117499;AL833221;AL834398;AMYH02035949;AMYH02035950;BC016842;NM_001114093;NM_015578;XM_005258719;XM_005258720;XM_005258721;XM_005276948;XM_005276949;XM_005276950 AAH16842;BAB55066;BAB55259;BAC99045;BAC99046;BAG61978;CAB55964;CAD39060;NP_001107565;NP_056393;Q8ND56;XP_005258776;XP_005258777;XP_005258778;XP_005277005;XP_005277006;XP_005277007 Hs.744009 1645364;1689243;1738983;1797214;1822366;2041966;2138994;2140551;2145658 CSAP26E;D19S1104;D19S802;ECD12271;REN92021;RH44323;RH70420;RH93647;WI-15149 C19orf13;DKFZp434D1335;FAM61A;RAP55;RAP55A;alphaSNBP;hRAP55;hRAP55A LSM14 homolog A;RNA-associated protein 55;RNA-associated protein 55A;chromosome 19 open reading frame 13;family with sequence similarity 61, member A;protein SCD6 homolog;putative alpha-synuclein-binding protein APPROVED protein-coding ENSG00000257103 HGNC:24489 12697 610677 VALIDATED 3362200 LSM6P1 LSM6 pseudogene 1 18 18 18 q21.33 56003446 56003686 - 59285569 59285809 - 61618336 61618576 - 100129011 ABBA01056188;AC090409;AMYH02034859;NG_016615 1676252 RH93775 HsT818;LSM6P APPROVED pseudo HGNC:31738 INFERRED 1313330 LSM7 LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004] 19 19 19 p13.3 2255614 2262707 - 2321520 2328614 - 2321521 2328615 - 1580863;6480464;6907045 10523320;10851237;11591653;11920408;12165861;12477932;12515382;14603251;14667819;15057824;15231747;15452143;15489334;17643375;19615732;21890473;21906983;21988832;22365833;22939629;23000965;24250222;25015289;25036637 51690 K7EML7;K7ENY5;Q9UK45 ABBA01002722;AC005258;AF182293;AMYH02035190;BC018621;BI553911;CH471139;FB336555;HH767894;NM_016199 AAC25622;AAD56231;AAG45442;AAH18621;ABM86086;ABM86327;ABW03771;CAR81225;CBX84703;EAW69389;EAW69390;NP_057283;Q9UK45 Hs.512610 1653571 RH47890 YNL147W U6 snRNA-associated Sm-like protein LSm7 APPROVED protein-coding ENSG00000130332 HGNC:20470 06287 607287 VALIDATED 1606916 LSMEM1 leucine-rich single-pass membrane protein 1 FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; cyclosporin A; formaldehyde 7 7 7 q31.1 106932874 106942905 + 112120908 112130943 + 112480327 112491062 + 6480464 12477932;12690205;14702039;16344560;21832049;8889549 286006 Q8N8F7 AA121517;ABBA01057846;AC005192;AK096894;AMYH02016583;BC031976;BC126149;BC130568;CH236947;CH471070;DA894907;DA898266;DB456503;NM_001134468;NM_182597;XM_006715931;XM_006715932 AAI26150;AAI30569;ADR82831;BAC04886;EAL24374;EAW83464;EAW83465;NP_001127940;NP_872403;Q8N8F7;XP_006715994;XP_006715995 Hs.396189 1699256;1852768 RH103209;STS-AA035585 C7orf53;FLJ39575;MGC161427;MGC163440;MGC42850 OTTHUMP00000207390;OTTHUMP00000207392;coiled-coil domain-containing transmembrane protein C7orf53;hypothetical protein LOC286006 APPROVED protein-coding ENSG00000181016 HGNC:22036 08258 VALIDATED 1315632 LSM4 LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 19 19 19 p13.11 18319475 18335755 - 18417040 18434001 - 18306230 18323191 - 1580863;6480464;6907045 10369684;10523320;10851237;10931946;11920408;11971955;12477932;12515382;12549820;15231747;15489334;15905169;16189514;17178857;17353931;17643375;19088440;19240061;19615732;20360068;21139048;21890473;21906983;21988832;22365833;22939629;24250222;24255165;24550385;24816145;8889548 25804 M0QXB0;Q9Y4Z0;U3KQK1;U3KQS7;V9GZ56 AA722246;ABBA01051257;AC008397;AF117235;AF182290;AF251218;AJ238096;AMYH02035730;BC000387;BC003652;BC022198;BC023665;BF432099;BQ069184;BU539495;BX096089;CF147062;CH471106;DB493307;NM_001252129;NM_012321 AAD56228;AAF17216;AAF90055;AAH00387;AAH03652;AAH22198;AAH23665;ACE87088;ACE87767;CAB45867;EAW84686;EAW84687;EAW84688;EAW84689;NP_001239058;NP_036453;Q9Y4Z0 Hs.515255 1776061;1778019;5095012 G29334;LSM4;RH64873 GRP;YER112W U6 snRNA-associated Sm-like protein LSm4;glycine-rich protein APPROVED protein-coding ENSG00000130520 HGNC:17259 06284 607284 REVIEWED 1318552 LSM5 LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004] 7 7 7 p14.3 32508861 32518784 - 32524945 32534870 - 32485333 32495258 - 1580863;6480464;6907045 10369684;10523320;10851237;11591653;11920408;12477932;12515382;12690205;14702039;15231747;15489334;16341674;16344560;17207965;21139048;21890473;22365833;22505724;22939629;23362303;23824909;24816145 23658 B8ZZF8;F8W8Y8;Q9Y4Y9 AACC02000087;ABBA01056837;AC018641;AF182291;AJ238097;AK022772;AK024217;AMYH02015476;BC005938;BC040717;BF667238;BF700164;BM786181;CH471073;CX782029;DA736378;FB336553;HH767892;NM_001130710;NM_001139499;NM_012322;NR_024466 AAD56229;AAH05938;ADQ33157;CAB45868;CAR81224;CBX84702;EAL24440;EAW93990;EAW93991;NP_001124182;NP_001132971;NP_036454;Q9Y4Y9 Hs.424908 1847645;1855837;2144988;5020948 G35510;GDB:594250;SHGC-56022;SHGC-56023 FLJ12710;YER146W OTTHUMP00000123495;OTTHUMP00000202663;OTTHUMP00000202664;OTTHUMP00000202665;OTTHUMP00000202666;OTTHUMP00000202667;U6 snRNA-associated Sm-like protein LSm5 APPROVED protein-coding ENSG00000106355 HGNC:17162 06285 607285 VALIDATED 1602071 LSMEM2 leucine-rich single-pass membrane protein 2 FOUND IN integral component of membrane (inferred) 3 3 3 p21.31 50289343 50298377 + 50316458 50325545 + 50278540 50288114 + 12477932;14702039;15489334;21832049 132228 Q8N112 ABBA01024552;AK095927;AMYH02006766;AMYH02006767;BC028000;CH471055;NM_153215;U73167;U90094;XM_005264882;XM_006712979;XM_006712980;XM_006712981 AAH28000;ACE86783;ACE87469;BAC04652;EAW65068;NP_694947;Q8N112;XP_005264939;XP_006713042;XP_006713043;XP_006713044 Hs.315177 1684152;2108165;2157644 IFRD2_8768;RH76408;SHGC-76999 C3orf45;FLJ38608 OTTHUMP00000211056;hypothetical protein LOC132228;uncharacterized protein C3orf45 APPROVED protein-coding ENSG00000179564 HGNC:26781 08789 PROVISIONAL 6481435 LSP1P2 lymphocyte-specific protein 1 pseudogene 2 3 3 75444339 75444473 + 75395188 75395322 + 100873967 ABBA01030984;AC139453;AMYH02007085;NG_032351 pseudo HGNC:39717 INFERRED 6483669 LSP1P3 lymphocyte-specific protein 1 pseudogene 3 5 5 5 p13.3 28809602 28810045 + 28926977 28927420 + 28926870 28927313 + 6480464 12477932;17903296 729862 Q0VAF9 ABBA01066690;AC010385;AMYH02011082;BC121073;BC121074;NR_033961 AAI21074;AAI21075 Hs.646006 MGC150340 pseudo HGNC:39718 VALIDATED 1318211 LSM8 LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae) This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010] 7 7 7 q31.31 112633566 112653561 + 117824086 117844093 + 118184032 118204039 + 1580863;6480464;6907045 10369684;10523320;11920408;12477932;12690205;12853948;14667819;14702039;15231747;15489334;16051491;16344560;17620012;19398576;19615732;19660095;20360068;21139048;21988832;22365833;22863883;22875987;22939629;23667531;24250222;8889548;9847074 51691 A4D0W0;C9JIZ0;C9JNV3;F2Z2Y6;O95777 ABBA01057790;AC006389;AF182294;AK090561;AK311936;AL600056;AMYH02016641;BC002742;BC022440;BC042464;BC045532;BC053644;BC064376;BM972935;CH236947;CH471070;DA112078;DA318705;DA478457;DB275674;NM_016200 AAD15542;AAD56232;AAH02742;AAH22440;BAG34877;EAL24351;EAW83535;EAW83536;EAW83537;NP_057284;O95777 Hs.655046 FLJ33242;NAA38;YJR022W LSM8 homolog, U6 small nuclear RNA associated;MAK31-like protein;N-alpha-acetyltransferase 38, NatC auxiliary subunit;OTTHUMP00000211114;OTTHUMP00000211115;OTTHUMP00000211116;U6 snRNA-associated Sm-like protein LSm8 APPROVED protein-coding HGNC:20471 06288 607288 REVIEWED 736744 LSR lipolysis stimulated lipoprotein receptor INVOLVED IN liver development (ortholog); FOUND IN extracellular vesicular exosome; plasma membrane (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; arsenous acid 19 19 19 q13.12 32452998 32472305 + 35739290 35758867 + 35248656 35267964 + 6480464 10224102;12477932;14702039;15057824;15324660;15489334;15778465;16083285;16303743;16341674;17975147;17979178;18029348;19199708;21139048;21245199;21890473;21906983;21988832;22053931;22252869;23000965;23631918;24250222;8889548 51599 B4DKL4;M0QZL9;M0R0W1;M0R1W9;Q86X29;S4R3V8 ABBA01018736;ABBA01018737;AC002128;AD000684;AF130366;AK075426;AK126834;AK130367;AK296618;AMYH02035980;BC000015;BC004381;BC047376;BM837160;BM971691;BQ711340;CF141732;JA738591;JA738593;JA738595;NM_001260489;NM_001260490;NM_015925;NM_205834;NM_205835;XM_005258980;XM_005258982 AAB51178;AAB58317;AAD22101;AAH00015;AAH04381;AAH47376;BAC11614;BAC86714;BAG59226;CCF76948;CCF76949;CCF76950;NP_001247418;NP_001247419;NP_057009;NP_991403;NP_991404;Q86X29;XP_005259037;XP_005259039 Hs.466507 1851955;2150254 RH48421;RH68134 ILDR3;LISCH7;MGC10659;MGC48312;MGC48503 LISCH protein;immunoglobulin-like domain containing receptor 3;lipolysis-stimulated lipoprotein receptor;lipolysis-stimulated receptor;lipolysis-stimulated remnant;liver-specific bHLH-Zip transcription factor;liver-specific bhlh-zip transcription factor 7 protein-coding ENSG00000105699 HGNC:29572 17283 VALIDATED 5129375 LSP1P1 lymphocyte-specific protein 1 pseudogene 1 13 13 13 q12.13 6655095 6655231 + 25591540 25591676 + 25017402 25017538 + 100463528 ABBA01007898;AL590099;AMYH02027714;NG_023189 pseudo HGNC:39716 INFERRED 736635 LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009] 21 21 21 q22.3 32720748 32761140 - 47608360 47648738 - 46188446 46228824 - 1580863;1300048;1626611;2316857;2316919;6480464 1429550;16440058;16876788 10598817;10830953;11421484;12477932;14702039;14741744;14766201;15489334;15525992;15790807;16344560;16806233;17186944;17255364;18660489;19119143;19913121;19946888;20379614;20628086;21139048;21890473;21906983;21963094;21987572;21988832;22053931;22505724;23000965;24250222;24654937;24816145;25015289;3515096;7639730;8593458;8655142;8820110;8889548;9763219 4047 B2R694;C9J315;H7C3A5;P48449 AA922470;ABBA01021757;ABBA01021758;ABBA01021759;AJ239031;AK092334;AK096769;AK098352;AK128839;AK226141;AK296313;AK312489;AMYH02037950;AP001468;AP001469;AY927524;BC035638;BM662957;BU728696;BX443698;CH471079;D63807;DA333499;GN121355;HB965870;HB966073;HD023280;HD023483;NG_011510;NM_001001438;NM_001145436;NM_001145437;NM_002340;S81221;X87809;XM_006724003;XM_006724004 AAB36220;AAH35638;ABM82160;ABM85344;BAA09875;BAC03865;BAC04859;BAC05289;BAC87638;BAG35391;BAG59011;CAA61078;CAB42828;CAY34695;CBG17604;CBG17696;CBV30957;CBV31050;EAX09299;EAX09300;EAX09301;EAX09302;EAX09303;NP_001001438;NP_001138908;NP_001138909;NP_002331;P48449;XP_006724066;XP_006724067 Hs.596543 1654377;1674796;1693678;1757159;1790627;2119132 RH78361;SHGC-144587;SHGC-58604;SHGC-87723;SHGC-87729;STS_CEB254 FLJ25486;FLJ35015;FLJ39450;FLJ46393;OSC;hOSC 2,3-epoxysqualene--lanosterol cyclase;2,3-epoxysqualene-lanosterol cyclase;2,3-oxidosqualene: lanosterol cyclase;OTTHUMP00000115784;OTTHUMP00000115785;OTTHUMP00000225573;lanosterol synthase;oxidosqualene--lanosterol cyclase APPROVED protein-coding ENSG00000160285 HGNC:6708 02945 600909 REVIEWED 1345160 LSM6 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004] 4 4 4 q31.22 144416300 144430678 + 147096835 147111213 + 146175683 146190061 + 6480464;6907045 10369684;10523320;10851237;11920408;12477932;12515382;15231747;15489334;19615732;21832049;21890473;22365833;22939629;23667531;24825905 11157 P62312 ABBA01070044;AC097372;AF182292;AI351504;AJ238098;AK312126;AMYH02010261;AMYH02010262;BC016026;BC019894;CH471056;DB465201;NM_007080 AAD56230;AAH16026;AAY41032;ABM83254;ABW03308;BAG35062;CAB45869;EAX05029;EAX05030;EAX05031;NP_009011;P62312 Hs.190520 1676252;2172283 RH93775;SHGC-59433 YDR378C OTTHUMP00000220223;OTTHUMP00000220224;OTTHUMP00000220225;OTTHUMP00000221100;Sm protein F;U6 snRNA-associated Sm-like protein LSm6 APPROVED protein-coding ENSG00000164167 HGNC:17017 06286 607286 VALIDATED 1348020 LTB4R leukotriene B4 receptor ENCODES a protein that exhibits leukotriene B4 receptor activity (inferred); leukotriene receptor activity (inferred); nucleotide binding (inferred); INVOLVED IN cellular component movement (inferred); G-protein coupled receptor signaling pathway (inferred); immune response (inferred); PARTICIPATES IN G protein mediated signaling pathway; ASSOCIATED WITH Arteriosclerosis (ortholog); Carotid Artery Diseases (ortholog); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',5-triiodo-L-thyronine; 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one 14 14 14 q11.2-q12 4645334 4651863 + 24780705 24787242 + 24311499 24318036 + 1581956;1580863;1581954;6480464 16043658;16293697 10934229;10934230;11907121;12077128;12163367;12244116;12374694;12477932;12664610;12787680;12895595;12902330;12913925;12943671;14688279;15358776;15489334;15728714;15789613;15814727;16493075;16624877;16754659;16920986;17075244;17139258;17158791;17237498;17445804;17931111;18323512;18421027;18490452;18571838;18797182;18852255;19064572;19136615;19309698;20395453;20489206;20688055;21596548;21988832;22206291;22215047;22707565;23137534;23167751;23304088;24663678;8558062;8702478;8889549;8921391;9177352;9268704;9742207 1241 G3V244;G3V4Q5;Q15722 AA021034;AB008193;ABBA01061340;ABBA01061341;AL096870;AMYH02028880;AW242534;AX151031;AY322535;BC004545;BQ182452;BT007267;BU146237;CH471078;D89078;D89079;NM_001143919;NM_181657;U33448;U41070;X98356 AAB16747;AAC50628;AAH04545;AAP35931;AAP84348;ABM84725;ABW03628;BAA20423;BAA20424;BAB00611;CAA67001;CAC42548;EAW66029;NP_001137391;NP_858043;Q15722 Hs.567248 2137569;2148486;2162411;5037552 D14S1352;D8S2279;RH70604;STS-AA021034 BLT1;BLTR;CMKRL1;GPR16;LTB4R1;LTBR1;P2RY7;P2Y7 G protein-coupled receptor 16;G-protein coupled receptor 16;LTB4-R 1;LTB4-R1;OTTHUMP00000164789;OTTHUMP00000164790;OTTHUMP00000246420;OTTHUMP00000246422;P2Y purinoceptor 7;chemoattractant receptor-like 1;chemokine receptor-like 1;leukotriene B4 receptor 1;purinergic receptor P2Y, G-protein coupled, 7 2315792 GLUCO171_H protein-coding ENSG00000213903 HGNC:6713 03320 601531 VALIDATED 1322731 LTA4H leukotriene A4 hydrolase ENCODES a protein that exhibits aminopeptidase activity; epoxide hydrolase activity; leukotriene-A4 hydrolase activity; INVOLVED IN leukotriene biosynthetic process; peptide catabolic process; PARTICIPATES IN leukotriene metabolic pathway; lipoxygenase mediated pathway of arachidonic acid metabolism; arachidonic acid metabolic pathway; ASSOCIATED WITH Adenocarcinoma (ortholog); Asthma (ortholog); Carcinoma, Squamous Cell (ortholog); FOUND IN cytoplasm; extracellular vesicular exosome; nucleus; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 12 12 12 q22 96060902 96095656 - 96394531 96437298 - 96000753 96043520 - 1580863;2313910;2316582;2316606;2316607;6480464;6907045 12865451;15715933;17517102;17985342 10887124;11154734;11175901;11451962;11675384;12477932;1357660;15078870;1516710;15489334;15886380;16169070;16282974;16293801;16344560;16698924;17353931;18029348;18318662;18323512;18547289;18599387;18781797;18804029;1881903;1897988;19056482;19056867;19130089;19131661;19214143;19322201;19622707;1975494;19913121;19919819;20067482;20211140;20237496;20432426;20562859;20628086;20810156;20966902;21044950;21081666;21112816;21139048;21890473;21906983;21963094;21987572;22053931;22206291;2233358;2244921;22505724;22586326;22848428;22939629;23000965;23079278;23153620;23504711;23573270;23828562;24816145;2821541;3038871;3654641;6490615;7628486;7843421;8615763;9395533;9578147;9733439 4048 B4DEH5;P09960 AB209740;ABBA01053319;AC007298;AK293630;AK298017;AK301308;AK308184;AK310461;AK310522;AMYH02026994;BC032528;BC036555;BX647158;CH471054;CR457068;DB019628;DC358373;J02959;J03459;NM_000895;NM_001256643;NM_001256644;R41544;U27293;XM_005268871 AAA36176;AAA36177;AAA89077;AAH32528;AAH36555;ADZ15951;BAD92977;BAG57086;BAG60321;BAG62860;CAG33349;EAW97557;EAW97558;EAW97559;EAW97560;NP_000886;NP_001243572;NP_001243573;P09960;XP_005268928 Hs.524648 1672502;1855764;2111860;7186780 D12S1883;D12S206;D12S2087 FLJ17564 LTA-4 hydrolase;OTTHUMP00000243570;OTTHUMP00000243571;OTTHUMP00000243572;leukotriene A-4 hydrolase protein-coding ENSG00000111144 HGNC:6710 01056 151570 VALIDATED 1350273 LST1 leukocyte specific transcript 1 The protein encoded by this gene is a membrane protein that can inhibit the proliferation of lymphocytes. Expression of this gene is enhanced by lipopolysaccharide, interferon-gamma, and bacteria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 6 6 6 p21.3 33152171 33154901 + 31553956 31556686 + 31586179 31588909 + 2316570;2316565;6480464;7240710;8554872 16362817;9808588 10562324;10668961;10706707;10944527;11478849;11828009;12477932;12646700;1352700;14574404;14656967;14667819;15090600;17192395;18818748;19019335;19242354;19527514;19663701;19773279;19851445;19913121;20173083;20628086;20663564;20668555;20689807;20854863;21102463;22589543;23239025;7590964;8824804;9367684 7940 F2Z2M1;H7C4M3;H7C4Z3;O00453;Q2HNT4;Q5HYT5;Q5STB1 ABBA01038081;AF000424;AF000425;AF000426;AF129756;AI091696;AJ705986;AL662801;AL662847;AL929587;AMYH02013452;AV711621;AV715235;AW925228;AY852265;AY852266;BA000025;BC103855;BC103856;BI838080;BX248519;BX647293;BX927320;CD742958;CH471081;CR753892;CR759886;CR942185;DQ099382;M74228;NG_030378;NM_001166538;NM_007161;NM_205837;NM_205838;NM_205839;NM_205840;NR_029461;NR_029462;U00921;XM_006715206;XM_006715207;XM_006715208;XM_006715209;XM_006715210;XM_006715211;XM_006725043;XM_006725044;XM_006725045;XM_006725046;XM_006725047;XM_006725048;XM_006725049;XM_006725522;XM_006725523;XM_006725524;XM_006725525;XM_006725526;XM_006725527;XM_006725740;XM_006725741;XM_006725742;XM_006725743;XM_006725744;XM_006725745;XM_006725746;XM_006725848;XM_006725849;XM_006725850;XM_006725851;XM_006725852;XM_006725853;XM_006725937;XM_006725938;XM_006725939;XM_006725940;XM_006725941;XM_006725942;XM_006726038;XM_006726039;XM_006726040;XM_006726041;XM_006726042;XM_006726043;XM_006726126;XM_006726127;XM_006726128;XM_006726129;XM_006726130;XM_006726131;Y18486;Y18487;Y18488;Y18489;Y18490 AAB57724;AAB86998;AAB86999;AAB87000;AAD18090;AAI03856;AAI03857;AAX45331;AAX45332;AAZ13758;BAB63394;CAB59903;CAB59904;CAB59905;CAB59906;CAB60038;EAX03427;EAX03428;EAX03429;EAX03430;EAX03431;EAX03432;EAX03433;EAX03434;EAX03435;EAX03436;EAX03437;EAX03438;NP_001160010;NP_009092;NP_995309;NP_995310;NP_995311;NP_995312;O00453;XP_006715269;XP_006715270;XP_006715271;XP_006715272;XP_006715273;XP_006715274;XP_006725106;XP_006725107;XP_006725108;XP_006725109;XP_006725110;XP_006725111;XP_006725112;XP_006725585;XP_006725586;XP_006725587;XP_006725588;XP_006725589;XP_006725590;XP_006725803;XP_006725804;XP_006725805;XP_006725806;XP_006725807;XP_006725808;XP_006725809;XP_006725911;XP_006725912;XP_006725913;XP_006725914;XP_006725915;XP_006725916;XP_006726000;XP_006726001;XP_006726002;XP_006726003;XP_006726004;XP_006726005;XP_006726101;XP_006726102;XP_006726103;XP_006726104;XP_006726105;XP_006726106;XP_006726189;XP_006726190;XP_006726191;XP_006726192;XP_006726193;XP_006726194 Hs.436066 1679712;1791003;2106183;2106185;2110493;2148169;2168186;5111600;5117003;5492625;7188787;7188789 D6S2789;D6S2790;LST1_7911;RH76281;RH76316;SHGC-63639;STS-U00921;TNFd;TNFe;UniSTS:481830 B144;D6S49E;LST-1;MGC119006;MGC119007 OTTHUMP00000029390;OTTHUMP00000029391;OTTHUMP00000029392;OTTHUMP00000029393;OTTHUMP00000029394;OTTHUMP00000029395;OTTHUMP00000029396;OTTHUMP00000029397;OTTHUMP00000029398;OTTHUMP00000029399;OTTHUMP00000166010;OTTHUMP00000166011;OTTHUMP00000166013;OTTHUMP00000166014;OTTHUMP00000166016;OTTHUMP00000166017;OTTHUMP00000166018;OTTHUMP00000166019;OTTHUMP00000215143;leucocyte specific transcript 1;leukocyte-specific transcript 1 protein;lymphocyte antigen 117 APPROVED protein-coding ENSG00000204482 HGNC:14189 00172 109170;237450 REVIEWED 1353964 LTB lymphotoxin beta (TNF superfamily, member 3) Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33146550 33148417 - 31548335 31550202 - 31580558 31582425 - 1580863;6480464;6907045;8548819;8548822;8548820 11390430;12115620;17911622 10202016;10318773;10668961;11823516;12474234;12477932;14656967;15034048;15077289;15248211;15489334;15910501;15969671;16702430;1670638;1671667;1714477;17981284;18292573;18379788;19115949;19222863;19729601;19735075;19800575;19851445;19913121;19948975;20356761;20628086;20662065;21029472;21102463;21211989;21248773;22294627;22652080;22742857;2995927;7590964;7601445;7916655;7995952;8081366;8499947;8586432;8629302;8824804;9185077;9235946;9299492;9317127;9480751;9545284 4050 Q06643;Q5STB2 AB088106;AB103612;AB202114;ABBA01038081;AF129756;AK312210;AL662801;AL662847;AL929587;AMYH02013452;AY070219;AY216497;BA000025;BC055090;BC069330;BC093783;BX248519;BX927320;CH471081;CR753892;CR759886;CR942185;CS081478;L11015;L11016;NM_002341;NM_009588;U79029;U89922;Y14768 AAA36191;AAA99888;AAB37342;AAC51769;AAD18089;AAH69330;AAH93783;AAL49954;AAL49955;AAO21134;BAB63395;BAC54938;BAE78640;BAF31273;BAG35143;CAA75069;CAI95950;EAX03425;EAX03426;NP_002332;NP_033666;Q06643 Hs.376208 1685776;5492935 RH75844;UniSTS:483258 LT-beta;TNF-C;TNFC;TNFSF3;p33 OTTHUMP00000029185;OTTHUMP00000215145;lymphotoxin-beta;tumor necrosis factor C;tumor necrosis factor ligand superfamily member 3 APPROVED protein-coding ENSG00000227507 HGNC:6711 02987 600978 REVIEWED 1353949 LTB4R2 leukotriene B4 receptor 2 ENCODES a protein that exhibits leukotriene B4 receptor activity (inferred); leukotriene receptor activity (inferred); INVOLVED IN chemotaxis (inferred); G-protein coupled receptor signaling pathway (inferred); keratinocyte migration (inferred); FOUND IN membrane; INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 3,3',4,4',5-pentachlorobiphenyl; bisphenol A 14 14 14 q12 4643986 4645888 + 24779357 24781259 + 24310151 24312053 + 1580863;6480464 10889186;10913346;10913347;10934229;10934230;11006272;12044878;12477932;12895595;12913925;15489890;16624877;16754659;16920986;18082638;18323512;18421027;18781173;18852255;18981151;19126593;19131661;19286633;19448154;19748928;19946888;20026606;20090768;20194723;21252614;22044535;22215047;22396544;22426480;23145117;23167751;23347335;23603839;23799854;23928309;23986446 56413 B4E292;E9PIC1;E9PNJ6;Q9NPC1 AB008193;AB029892;AB032558;AB044402;AB083604;ABBA01061340;AF277230;AF308571;AJ278605;AK304169;AL096870;AMYH02028880;AY268433;BC038437;BC119674;BC127643;CH471078;DC408599;NM_001164692;NM_019839 AAF81261;AAG40857;AAI19675;AAI27644;AAI72240;AAI72548;AAP23200;BAA99539;BAA99553;BAB00610;BAB89317;BAD83590;BAG65054;CAB96134;EAW66030;NP_001158164;NP_062813;Q9NPC1 Hs.642693;Hs.657595 1685165 RH94061 BLT2;BLTR2;JULF2;KPG_004;LTB4-R 2;LTB4-R2;NOP9 LTB4 receptor JULF2;OTTHUMP00000235299;OTTHUMP00000235300;leukotriene B4 receptor BLT2;seven transmembrane receptor BLTR2 protein-coding ENSG00000213906 HGNC:19260 16153 605773 VALIDATED 736405 LTBP3 latent transforming growth factor beta binding protein 3 The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] 11 11 11 q13.1 62632308 62652081 - 65306030 65325858 - 65538559 65558228 - 6480464;7240710;8554872;8699517 10743502;10930463;11104663;11846885;12062452;12154076;12358597;12477932;14702039;15231748;15489334;16157329;16223572;16751776;18672106;19199708;19344874;19453261;19897194;20587546;20708005;21078624;21700711;21988832;22268729;23263486;7719025;7798248;9620332 4054 B9EG76;E9PJR2;E9PKW1;E9PPT7;E9PQR0;E9PR75;E9PR84;E9PRF2;F5GWC4;H0YC99;H0YCQ2;H0YCX6;H0YE75;Q8WYU6;Q9NS15 ABBA01024112;ABBA01024113;AF011407;AF135960;AF135961;AF318354;AK024477;AK090750;AK097212;AK124524;AK126126;AK127484;AK298858;AK299351;AK309230;AL117551;AMYH02024961;AP000769;AP001362;BC008761;BC136277;CH471076;DQ572158;NG_016437;NM_001130144;NM_001164266;NM_021070 AAB64201;AAF62352;AAF62353;AAH08761;AAI36278;AAL55861;BAB15767;BAG54046;BAG60980;BAG61347;CAB55988;EAW74401;EAW74402;EAW74403;EAW74404;EAW74405;NP_001123616;NP_001157738;NP_066548;Q9NS15 Hs.289019 1770095;1773880;2109533;2158869;5037552;5109281 D1S1425;D8S2279;L18006;MTVR1_9385;RH65764;WI-15382 DKFZp586M2123;FLJ33431;FLJ39893;FLJ42533;FLJ44138;FLJ45576;LTBP-3;LTBP2;STHAG6;pp6425 OTTHUMP00000233545;OTTHUMP00000233546;OTTHUMP00000233549;OTTHUMP00000233550;latent TGF beta binding protein 3;latent-transforming growth factor beta-binding protein 3 APPROVED protein-coding ENSG00000168056 HGNC:6716 03649 251750;602090;613086;613097;614819 REVIEWED 1315988 LTBP4 latent transforming growth factor beta binding protein 4 The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] 19 19 19 q13.1-q13.2 37898123 37934766 + 41099072 41135725 + 40593166 40629820 + 1582112;6480464;7240710;8554872;8699517 12208849 10930463;11104663;11683420;16157329;16456143;16713569;18276110;18487557;18585707;18654987;18985028;19836010;19897194;19913121;19998449;20175115;20424473;20587546;20628086;20800603;21078624;21468687;21505857;21963094;21988832;22268729;22558309;22829427;23440719;23741501;9271198;9660815 8425 B3KXY6;E7ENG9;E7EUU1;F8WAA0;M0QXV3;M0QYE9;M0QZX0;M0R351;Q8N2S1 ABBA01040777;ABBA01040778;ABBA01040779;AC010412;AF051344;AF051345;AF054501;AF054502;AK074499;AK128191;AK304612;AK309484;AMYH02036118;AMYH02036119;AMYH02036120;BQ001109;CH471126;HI574228;HI574230;HI574232;KF459702;NG_021201;NM_001042544;NM_001042545;NM_003573;Y13622 AAC39879;AAC39880;AAC39881;AAC39882;BAC11024;BAG54648;BAH14224;CAA73944;CBX47603;CBX47604;CBX47605;EAW56982;EAW56983;EAW56984;EAW56985;NP_001036009;NP_001036010;NP_003564;Q8N2S1 Hs.466766 1689923;1698180;1750521;5091287;5491697 G29622;MARC_8055-8056:996688248:1;RH102626;RH94117;SHGC-111828 ARCL1C;FLJ46318;FLJ90018;LTBP-4;LTBP-4L;LTBP4L;LTBP4S latent transforming growth factor-beta binding protein 4L;latent-transforming growth factor beta-binding protein 4 APPROVED protein-coding ENSG00000090006 HGNC:6717 05274 604710;613177 REVIEWED 1319795 LTBR lymphotoxin beta receptor (TNFR superfamily, member 3) This gene encodes a member of the tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012] 12 12 12 p13 8110613 8117993 + 6484534 6500737 + 6375368 6391571 + 1580863;6480464;6907045;8554872 10200501;10207006;10229841;10318773;10753918;10799510;11092613;11279055;12083416;12169272;12387745;12393901;12419817;12466117;12477932;12485937;12566458;12571250;12761501;14517219;14702039;15236187;15489334;15917993;16002734;16272360;16344560;16934497;17010447;17018619;17336158;17355640;17360402;17896993;18292573;18347013;18412315;19423540;19593445;19773279;19800575;20185819;20237496;20348096;20406964;20423844;20438785;20568250;20592286;20599198;20603617;20732415;21139048;21195057;21245292;21963094;21988832;22044682;22152226;22417320;23524463;24248355;24563505;7859281;7916655;8171323;8486360;8530100;8642291;8663299;8798772;8995654;9029113;9122217;9162022;9202035;9371602;9388227;9462508;9511754;9626059;9817170;9882379 4055 F5H1S5;F5H2E7;F5H627;F5H6F8;P36941 AB125676;ABBA01017642;AC005840;AK027080;AK095418;AK128019;AK293187;AMYH02025950;BC026262;BX648074;CH471116;DA679291;DC424721;JA362588;L04270;NG_033039;NM_001270987;NM_002342;XM_005253688;XM_006718983 AAA36757;AAH26262;ABM82921;ABM86111;BAD01488;BAG53051;BAH11468;CCA94576;EAW88801;EAW88802;NP_001257916;NP_002333;P36941;XP_005253745;XP_006719046 Hs.1116 1775378;1777304;1797832;2172515;5037552 D12S1911;D8S2279;G16208;LTBR_2435;RH45015 CD18;D12S370;LT-BETA-R;TNF-R-III;TNFCR;TNFR-RP;TNFR2-RP;TNFR3;TNFRSF3 OTTHUMP00000238625;OTTHUMP00000238626;TNF-RIII;TNFR superfamily, member 3;TNFR-III;lymphotoxin B receptor;lymphotoxin-beta receptor;tumor necrosis factor C receptor;tumor necrosis factor receptor 2-related protein;tumor necrosis factor receptor superfamily member 3;tumor necrosis factor receptor superfamily, member 3;tumor necrosis factor receptor type III APPROVED protein-coding ENSG00000111321 HGNC:6718 02988 600979 REVIEWED 1314573 LSP1 lymphocyte-specific protein 1 This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 333 5385 + 1874200 1913493 + 1852970 1892263 + 1580863;6480464;6907045;8554872 10233704;10925289;11746662;12477932;12972289;14702039;15090600;15188402;15489334;17296787;17481585;17529967;17827388;17997823;18029348;18437204;18973230;19094228;19232126;19656774;19700666;19718030;19789366;19843670;19856316;19913121;19946888;20054709;20095854;20145138;20237496;20417875;20453838;20554749;20605201;20628086;21127985;21297633;2174784;22454379;2295815;23119100;23128233;23182705;23535729;23824909;23936387;24163127;24681604;24867235;25015289;2674678;7561054;7706408;8125298;8274738;8468046;8838798;8995217;9890705 4046 A8K7L8;C9J9B9;C9JDV1;C9JKF7;C9JNQ1;C9JU59;E7EMG9;E9PBD8;P33241 ABBA01012161;ABBA01012162;ABBA01012163;AC051649;AF043107;AF043349;AI817126;AK056576;AK092071;AK093859;AK129684;AK222733;AK290279;AK292033;AMYH02024178;AMYH02024179;BC001785;BE043985;BQ893037;BQ893821;CH471158;CR541728;CR541754;NG_011509;NM_001013253;NM_001013254;NM_001013255;NM_001242932;NM_001289005;NM_002339;S58726;S67783;X55188;XM_005252924;XM_005252926;XM_005252927;XM_006718232 AAB29545;AAB99825;AAC00495;AAD13906;AAH01785;BAC85216;BAD96453;BAF82968;BAF84722;BAG51753;BAG52478;CAA38971;CAG46529;CAG46554;EAX02470;EAX02471;NP_001013271;NP_001013272;NP_001013273;NP_001229861;NP_001275934;NP_002330;P33241;XP_005252981;XP_005252983;XP_005252984;XP_006718295 Hs.56729 1737283;1798676;1798722;1799448;1799536;1799620;1799700;1799920;1800098;1800420;1800504;1800558;1801072;1802030;1802138;1802190;1802250;1802496;1803568;1803762;1803764;1803884;1804136;1805276;1805474;1806014;1806344;1806524;1811078;1813236;1817226;1818370;1818660;1821738;1822242;1825908;1828532;1832302;1834498;1845958;2089418;2089420;2089422;2089424;2089426;2089428;2089430;2089432;2089434;2089436;2089438;2089440;2089442;2089444;2089446;2089448;2089450;2089452;2089454;2089456;2089458;2089460;2089462;2089464;2089466;2089468;2089470;2089472;2089474;2089476;2089478;2089480;2089482;2089484;2089486;2089488;2089490;2089492;2089494;2089496;2089498;2089500;2089502;2089504;2089506;2089508;2089510;2089512;2089514;2089516;2089518;2089520;2089522;2089524;2089526;2089528;2089530;2089532;2089534;2089536;2089538;2089540;2089542;2089544;2089546;2089548;2089550;2089552;2089554;2089556;2089558;2089560;2089562;2089564;2089566;2089568;2089570;2089572;2089574;2089576;2089578;2089580;2089582;2089584;2089586;2089588;2089590;2089592;2089594;2089596;2089598;2089600;2089602;2089604;2089606;2089608;2089610;2089612;2089614;2089616;2089618;2089620;2089622;2089624;2089626;2089628;2089630;2089632;2089634;2089636;2089638;2089640;2089642;2089644;2089646;2089648;2089650;2089652;2089654;2089656;2089658;2089660;2089662;2089664;2089666;2089668;2089670;2089672;2089674;2089676;2089678;2089680;2089682;2089684;2089686;2089688;2089690;2089692;2089694;2089696;2089698;2089700;2180785;2216454;2216456;2216458;2216460;2216462;2216464;2216466;2216468;2216470;2216472;2216474;2216476;2216478;2216480;2216482;2216484;2216486;2216488;2216490;2216492;2216494;2216496;2216498;2217572;5108327;5108329 D11S3146;ECD00178;ECD00201;ECD00575;ECD00620;ECD00664;ECD00704;ECD00814;ECD00905;ECD01070;ECD01112;ECD01140;ECD01405;ECD01896;ECD01951;ECD01978;ECD02009;ECD02134;ECD02686;ECD02788;ECD02789;ECD02855;ECD02987;ECD03584;ECD03685;ECD03960;ECD04127;ECD04219;ECD06537;ECD07638;ECD09663;ECD10242;ECD10394;ECD11955;ECD12207;ECD14063;ECD15393;ECD17290;ECD18397;ECD24199;LSP1_2796;REN115971;REN115972;REN115973;REN115974;REN115975;REN115976;REN115977;REN115978;REN115979;REN115980;REN115981;REN115982;REN115983;REN115984;REN115985;REN115986;REN115987;REN115988;REN115989;REN115990;REN115991;REN115992;REN115993;REN115994;REN115995;REN115996;REN115997;REN115998;REN115999;REN116000;REN116001;REN116002;REN116003;REN116004;REN116005;REN116006;REN116007;REN116008;REN116009;REN116010;REN116011;REN116012;REN116013;REN116014;REN116015;REN116016;REN116017;REN116018;REN116019;REN116020;REN116021;REN116022;REN116023;REN116024;REN116025;REN116026;REN116027;REN116028;REN116029;REN116030;REN116031;REN116032;REN116033;REN116034;REN116035;REN116036;REN116037;REN116038;REN116039;REN116040;REN116041;REN116042;REN116043;REN116044;REN116045;REN116046;REN116047;REN116048;REN116049;REN116051;REN116052;REN116053;REN116054;REN116055;REN116056;REN116061;REN116062;REN116063;REN116064;REN116065;REN116067;REN116068;REN116069;REN116070;REN116071;REN116072;REN116073;REN116074;REN116075;REN116076;REN116077;REN116078;REN116079;REN116080;REN116081;REN116082;REN116083;REN116084;REN116085;REN116086;REN116087;REN116088;REN116089;REN116090;REN116091;REN116092;REN116093;REN116094;REN116095;REN116096;REN116097;REN116098;REN116100;REN116102;REN116103;REN116104;REN116105;REN116106;REN116107;REN116108;REN116109;REN116110;REN116111;REN116112;REN116113;REN116114;REN116115;REN116116;REN116117;REN116118;REN116119;REN116120;REN116121;REN116122;STS-W73739;stSG548524;stSG548525;stSG548526;stSG548527;stSG548528;stSG548530;stSG548531;stSG548532;stSG548533;stSG548534;stSG548536;stSG548537;stSG548541;stSG548542;stSG548543;stSG548544;stSG548545;stSG548546;stSG548547;stSG548548;stSG548550;stSG548551;stSG548552 WP34;pp52 47 kDa actin binding protein;47 kDa actin-binding protein;52 kDa phosphoprotein;F-actin binding and cytoskeleton associated protein;OTTHUMP00000014138;OTTHUMP00000014139;OTTHUMP00000014140;OTTHUMP00000069612;OTTHUMP00000069614;OTTHUMP00000069615;OTTHUMP00000069616;leufactin (leukocyte F-actin binding protein);leukocyte-specific protein 1;lymphocyte-specific antigen WP34;lymphocyte-specific protein pp52 APPROVED protein-coding ENSG00000130592 HGNC:6707 01083 153432 REVIEWED 1345394 LTA lymphotoxin alpha The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkin's lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 6 p21.3 33138091 33140313 + 31539876 31542101 + 31572099 31574324 + 1580414;1580415;1580416;1580417;1581940;1581936;1625035;1625033;1625034;1625036;1625042;1581937;1581939;1580863;1625038;2313255;2313262;2313261;2313264;2313263;2313253;2313257;2313259;4143370;4143264;4143254;4143247;4143248;4143371;4143260;4143373;4143234;6480464;6767553;6484113;6907045;7240710;8548790;8548797;8548807;8548775;8548776;8548784;8548798;8548819;8548782;8548777;8548806;8548778;4143220;8548804;8548835;8548802;8548841;8548842;8548772;8548773;8548785;8548799;8548821;8548787;8548795;8548800;8548801;8548805;8548791;8548836;8548796;8548786;8548789;8554872 10600011;11037831;11141334;11145686;11390430;11399938;11591192;11678832;11809756;11841482;12438370;12530118;12622777;12691703;12709814;1346144;14593215;15175864;15533732;15542404;15579454;15713215;15729581;15969671;15973460;16132956;16135717;16950634;16979413;17045328;17065682;17536219;17989340;18409070;18575614;1883913;18947013;18953879;19120272;19225544;19564380;19833626;20180006;20663564;20952683;21993476;22294627;22480318;22545387;2338821;23398946;7593556;7595196;7783649;7914110;7928443;8242903;8356596;9182821;9184655;9245742;9342542;9669810;9726033 10202016;10668961;11092520;11113269;11120931;11163081;11164894;11167813;11194890;11196686;11210078;11233912;11243953;11250044;11257271;11258696;11319038;11334675;11349201;11371414;11401880;11410733;11544434;11574100;11576577;11732226;11737072;11775944;11781708;11800584;11808761;11820636;11823516;11841484;11924527;11975986;12028020;12030733;12047333;12082592;12116197;12126516;12149604;12164325;12169181;12351419;12392859;12414751;12426569;12439617;12477932;12478078;12519452;12528108;12545006;12558135;12559634;12566517;12568117;12648734;12651071;12661999;12679941;12714268;12717265;12746914;12768436;12770792;12780951;1279199;12828656;12888330;12906716;12915440;12917036;12953135;1310388;1353024;1451807;14566095;14569193;14572794;14617046;14635012;14637275;14647194;14656967;14681301;14987295;15009068;15034015;15041959;15052269;15061799;15077289;15128916;15129282;15159312;15174288;15187748;15194285;15219382;15224026;15236755;15248209;15286263;15306179;15306845;15342556;15354858;15380900;15381184;15457442;15489334;15513316;15517637;15526004;15548263;15583987;15639341;15639929;15649304;15663746;15667484;15695296;15699425;15718364;15803361;15811521;15843211;15851552;15861005;15890243;15932622;15951664;15955450;15976383;15999154;16054631;16095118;16107511;16164697;16186631;16193177;16204594;16215460;16246225;16249504;16276011;16293872;16298864;16313841;16323614;16375755;16386648;16389181;16447204;16545485;16609369;16643431;16702430;1670638;1671667;16723241;16728705;16775170;16788244;16814297;16839190;16867312;16872485;16874159;16882065;16928504;16931032;16931544;16934308;16939911;16971410;16988060;17014622;17018637;17029750;17036337;17040205;17071996;17103073;17113059;17113632;17140746;17174749;17194634;17207711;17212707;17216494;17220333;17295710;17311253;17315188;17332138;17335371;17336158;1733919;17345061;17348243;17349875;17353895;17355643;17380888;17388919;17444587;17444864;17450233;17483704;17485095;17493152;17497114;17517687;17521734;17530646;17559370;17595314;17635597;17640324;17640627;17700210;17703412;17767060;17767555;17953695;17971052;17981284;17989341;18032375;18062795;18069935;18071035;18190265;18230628;18271063;18273643;18292573;18299433;18349535;18354254;18384488;18385169;18394614;18398039;18405969;18442814;18457972;18496506;18504081;18513389;18633131;18636124;18676680;18700950;18754435;18797991;18805892;18806884;18819899;18922873;18974840;18974842;18977990;18987644;18990758;19000388;19009622;19012493;19013708;19013788;19021060;19028820;19034549;19050632;19052714;19074885;19103156;19131662;19143814;19167443;19170196;19182073;19183163;19238444;19242354;19244371;19247692;19253056;19258923;19263529;19264973;19281305;19317746;19336475;19353239;19365711;19369902;19374512;19392621;19392797;19420105;19427781;19474452;19479237;19495883;19505916;19528505;19550417;19559392;19573080;19578796;19625176;19626584;19629486;19654554;19661089;19664671;19672706;19692168;19700502;19726041;19729601;19735075;19738620;19773279;19773451;19789445;19800575;19837266;19851445;19860767;19889075;19890662;19894308;19900796;19913121;19933216;19948975;19958618;20014019;20035431;20047977;20070603;20080841;20145925;20177654;20188863;20189261;20214763;20237496;20307689;20335604;20356761;20395963;20396759;20416077;20452482;20453000;20459604;20463618;20472930;20485444;20491592;20500087;20503287;20536507;20536609;20537163;20548340;20568250;20578820;20587610;20603037;20608170;20627040;20628086;20644561;20662065;20668555;20673868;20811626;20835611;20848459;20854863;20878356;20933106;20957367;21029472;21067489;21102463;21271873;21319595;21323572;21366408;21459939;21482522;21544635;2160731;21628868;21765051;21793721;22001640;22100609;22177457;22193458;22225620;22243485;22310064;22311026;22427961;2243081;22464751;22507624;22568977;22748850;22882567;22897480;22901152;23051989;23159874;23289732;23299818;23364796;23377953;23524463;23547113;23550407;23683942;23824834;23834030;23840460;23884763;23953530;24035239;24054031;24136744;24197700;24244632;24259423;24349304;2545693;2567059;2995927;3001109;3001529;3536896;3555974;6334807;6608523;7590964;7601445;7695626;7818827;7916655;7995952;8081366;8123048;8139045;8171323;8182064;8288897;8323280;8387891;8499947;8629302;8912010;9153189;9185077;9235946;9282784;9307242;9317127;9462508;9480751;9552007 4049 P01374;Q5ST95;Q5STV3;Q6FG55 A06316;AB088112;AB103618;AB202113;ABBA01038081;AF129756;AL662801;AL662847;AL929587;AMYH02013452;AY070490;AY216498;AY274903;AY274904;AY274905;AY274906;AY274907;AY274908;AY274909;AY274910;AY274911;AY274912;AY274913;AY274914;AY274915;AY274916;AY274917;AY274918;AY274919;AY274920;AY274921;AY274922;AY274923;AY274924;AY274925;AY274926;BA000025;BC034729;BG685356;BP338937;BX108399;BX248519;BX927320;CH471081;CR542253;CR542273;CR753892;CR942185;CS081477;D00102;D12614;DQ123821;DQ123822;DQ123823;DQ123824;DQ123825;DQ123826;DQ123827;M16441;M55913;NG_007462;NG_012010;NM_000595;NM_001159740;X01393;X02911;Y14768;Z15026 AAA61199;AAB59455;AAD18092;AAH34729;AAL49956;AAO21135;AAP51421;AAP51422;AAP51423;AAP51424;AAP51425;AAP51426;AAP51427;AAP51428;AAP51429;AAP51430;AAP51431;AAP51432;AAP51433;AAP51434;AAP51435;AAP51436;AAP51437;AAP51438;AAP51439;AAP51440;AAP51441;AAP51442;AAP51443;AAP51444;AAZ32914;AAZ32915;AAZ32916;AAZ32917;AAZ32918;AAZ32919;AAZ32920;ABM82045;ABM85224;BAA00064;BAA02139;BAB63397;BAC54943;BAE78638;BAF31278;CAA00536;CAA25649;CAA26670;CAA75071;CAA78746;CAG47049;CAG47069;CAI95949;EAX03422;EAX03423;NP_000586;NP_001153212;P01374 Hs.36 1741729;1794598;1796260;2106181;2160579;2165242;5120049 D6S2791;GDB:182383;GDB:192948;LTA_189;PMC32163P1;RH17367;RH71008 LT;TNFB;TNFSF1 LT-alpha;OTTHUMP00000029184;OTTHUMP00000165897;TNF superfamily, member 1;TNF-beta;lymphotoxin-alpha;tumor necrosis factor beta;tumor necrosis factor ligand superfamily member 1 APPROVED protein-coding ENSG00000226979 HGNC:6709 01084 153440;607507;608446;610988 REVIEWED 68547 LTBP1 latent transforming growth factor beta binding protein 1 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 2 p22-p21 33011085 33463289 + 33172221 33624576 + 32947154 33399509 + 1580863;6480464;6907045;8554872 10646116;10743502;10930463;11104663;12358597;12429738;12477932;12962157;14626352;15564041;16157329;16713569;16825507;17293099;17580303;18029348;18602101;18677313;19258388;19339270;19431147;19453261;19829035;19893584;19895311;19897194;19998449;20189936;20379614;20446778;20587546;20599762;20699357;20881960;21071877;21078624;21106222;21161366;21843572;21924590;22015652;22169532;22268729;22295116;22322529;22410565;22414291;22610502;22632886;22820497;23184937;23395279;23442056;23462118;2350783;23563607;23696034;23998914;24489852;8287682;8537398;8617200;8756760;9060478;9274625 4052 B7ZLY3;C9JD84;C9JDW2;E7EV71;H7BZ76;H7C0I7;H7C2H7;H7C4L5;Q14766 AA935267;AB208801;ABBA01074904;ABBA01074905;ABBA01074906;ABBA01074907;AC019127;AC019195;AC020594;AF489528;AK298027;AK299237;AK299912;AK302857;AK315991;AL133244;AL703596;AMYH02003559;AMYH02003560;AMYH02003561;AMYH02003562;AMYH02003563;AMYH02003564;AMYH02003565;AMYH02003566;BC130289;BC144127;BC144128;BM147075;BX103725;BX472809;BX492839;CA419949;CD657511;CF995689;CH471053;DR001861;L48925;M34057;NM_000627;NM_001166264;NM_001166265;NM_001166266;NM_206943;XM_005264315;XM_005264316;XM_005264317;XM_005264318;XM_005264319;XM_006712019 AAA61160;AAA96327;AAI30290;AAI44129;AAM03124;AAY14953;AAY15036;AAY24260;BAD92038;BAG60329;BAG61269;BAG61750;BAG64043;BAH14362;EAX00435;EAX00436;EAX00437;EAX00438;EAX00439;NP_000618;NP_001159736;NP_001159737;NP_001159738;NP_996826;Q14766;XP_005264372;XP_005264373;XP_005264374;XP_005264375;XP_005264376;XP_006712082 Hs.619315 1337884;1647412;1661936;1668538;1670746;1677949;1767485;1788920;1847309;1851921;1856926;2126993;2170608;2173635;2181883;5017732 D2S1794;D2S2005;D2S2347;D2S2901;G09490;G16444;G67795;LTBP1;RH46335;RH48056;RH65879;RH69620;RH98657;WI-16788;WI-18311;WI-9249 MGC163161 LTBP-1;OTTHUMP00000201218;OTTHUMP00000201281;OTTHUMP00000201282;OTTHUMP00000201676;OTTHUMP00000201704;TGF-beta1-BP-1;lanc (bacterial lantibiotic synthetase component c)-like 1;latent-transforming growth factor beta-binding protein 1;transforming growth factor beta-1-binding protein 1 APPROVED protein-coding ENSG00000049323 HGNC:6714 01039 150390 REVIEWED 733491 LTC4S leukotriene C4 synthase The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family includes a number of human proteins, several of which are involved the production of leukotrienes. This gene encodes an enzyme that catalyzes the first step in the biosynthesis of cysteinyl leukotrienes, potent biological compounds derived from arachidonic acid. Leukotrienes have been implicated as mediators of anaphylaxis and inflammatory conditions such as human bronchial asthma. This protein localizes to the nuclear envelope and adjacent endoplasmic reticulum. [provided by RefSeq, Jul 2008] 5 5 5 q35 174846142 174848669 + 179219263 179223616 + 179793985 179796512 + 1300048;2313910;2316612;2316641;2302283;6480464;6907045;7240710;8699517 17517102;18461660;19908283;7827126 10436863;10591082;10673221;10970815;11034337;11770699;11934880;12063521;12360108;12477932;12589355;12591277;12664565;12728163;12816731;12968987;14520724;1454853;14749922;15131571;1517222;15489334;15530365;16024972;16211251;16293801;16340173;16675353;16730545;17063752;17110605;17153879;17291864;17460547;17483957;17632546;17632548;17883728;17924829;18276912;18323512;18366797;18974840;19028820;19080532;19080797;19131661;19131662;19214143;19223558;19233132;19247692;19263529;19280718;19450127;19479237;19524426;19559392;19703064;19862937;19956635;20128419;20395963;20456754;20536507;20603037;20980252;21078989;21307858;21454538;21729626;22139193;22217203;22722751;22884858;23079278;23828562;23889244;24366866;7599836;7663172;7937884;8052639;8446623;8626689;8706658;8898379;9092565;9113110;9435249 4056 B5MCC3;D6RJA1;Q16873 ABBA01010042;AC008393;AI480325;AK312033;AMYH02012892;BC029498;BI597970;BI819419;CH471165;NG_028161;NM_145867;U09353;U11552;U50136;U62025 AAA20467;AAA50555;AAB06723;AAC50476;AAH29498;ABM81888;ABM85060;BAG34970;EAW53796;EAW53797;EAW53798;EAW53799;NP_665874;Q16873 Hs.706741 MGC33147 LTC4 synthase;OTTHUMP00000197039;leukotriene-C(4) synthase APPROVED protein-coding ENSG00000213316 HGNC:6719 02004 246530;614037 REVIEWED 1322627 LTV1 LTV1 ribosome biogenesis factor FOUND IN cytoplasm; nucleus; INTERACTS WITH atrazine; cyclosporin A; disodium selenite 6 6 6 q24.2 144904917 144925352 + 144164508 144184943 + 143843371 143863806 + 6480464 12477932;14702039;17207965;18029348;19471022;20360068;21282530;21906983;21963094;22113938;22863883;22939629;23612971;24778252;24816145 84946 Q96GA3 ABBA01025744;AK027815;AK091447;AK300360;AL049844;AMYH02014640;BC009855;CH471051;NM_032860 AAH09855;ADQ32684;BAB55388;BAG62100;EAW47858;EAW47859;EAW47860;NP_116249;Q96GA3 Hs.185675 1686758;1849820;2171719;5019251;5019831 A009Z26;DXS7944;G33020;RH16386;RH99001 C6orf93;FLJ14909;FLJ18519;dJ468K18.4 LTV1 homolog;OTTHUMP00000017340 APPROVED protein-coding ENSG00000135521 HGNC:21173 12906 PROVISIONAL 6769468 LTV1P1 LTV1 homolog (S. cerevisiae) pseudogene 1 4 4 4 q27 118391677 118392889 - 121012204 121013416 - 120091049 120092261 - 100289220 ABBA01044719;AC097173;AMYH02009996;NG_022033 pseudo HGNC:44049 INFERRED 5130586 LUC7L3P1 LUC7-like 3 (S. cerevisiae) pseudogene 1 13 13 13 51567142 51568086 - 70665071 70666015 - 70090939 70091883 - 100420198 ABBA01050311;AL160391;AMYH02028219;NG_024867 pseudo HGNC:39790 INFERRED 1319608 LTK leukocyte receptor tyrosine kinase The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 15 15 15 q15.1-q21.1 18563799 18574044 - 41795840 41806085 - 41503642 41513887 - 1580863;6480464;8554872 10445845;12107410;12237455;12477932;14695357;16344560;1655406;17910947;19815557;2156206;22347506;2320375;2836739;7685902;7851890;8084603;8427607;8910363;8995435;9223670 4058 H3BVG6;P29376 ABBA01038404;AC016134;AC087721;AK296892;AK314006;AMYH02030271;BC045607;BC143903;BX329448;CA394397;CH471125;CS542498;D16105;DA452723;DB331746;NM_001135685;NM_002344;NM_206961;X52213;X60702;XM_005254381;XM_005254382;XM_006720505 AAH45607;BAA03679;BAG59451;CAA36460;CAA43113;CAM91186;EAW92494;EAW92495;EAW92496;EAW92497;EAW92498;EAW92499;EAW92500;EAW92501;NP_001129157;NP_002335;NP_996844;P29376;XP_005254438;XP_005254439;XP_006720568 Hs.434481 1670691;1678209;1778234;1847315;2161114;2166326;7186318 G06356;RH78391;RH80861;SHGC-30069;STS-T16315;STS-X54938 TYK1 OTTHUMP00000160858;OTTHUMP00000160859;leukocyte tyrosine kinase receptor;protein tyrosine kinase 1 APPROVED protein-coding ENSG00000062524 HGNC:6721 01052 151520 REVIEWED 1604358 LUC7L3 LUC7-like 3 (S. cerevisiae) This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009] 17 17 17 q21.33 45258274 45291420 + 48796926 48830072 + 50719565 50752711 + 6480464 10631324;10754390;11329013;12477932;12565863;14702039;14729963;15146197;15324660;15798186;16344560;16462885;16482509;17353931;17643375;17726058;18029348;18663000;19454010;19471022;19574390;19710015;20237496;20508642;20677014;21139048;21145461;21182205;21859973;21906983;22558309;22939629;22939879;22990118;23602568;24457600;24550385;24816145;8125298 51747 A8K3C5;B4DJ96;C9JL41;D6RDI2;D6RHH0;E7EN55;H0YA81;H0YAR4;H0YAX1;H0YAY6;H0YBV7;H7C5U7;J3KPP4;O95232;Q86Y74;U3KQT3 ABBA01041244;ABBA01041245;AC005921;AF069250;AF147357;AK001925;AK023672;AK027723;AK225980;AK290540;AK295983;AL050121;AMYH02033598;AMYH02033599;BC002925;BC047043;BC056409;BC061896;BG213545;CH471109;CN271700;DA231851;DQ013876;NM_006107;NM_016424;XM_005257448;XM_005257449;XM_005257450;XM_005257451;XM_005257452;XM_005257454;XM_005257455;XM_006721943;XR_243663 AAC79807;AAH02925;AAH47043;AAH56409;AAI56955;AAY26238;BAA91981;BAF83229;BAG51216;BAG58758;EAW94583;EAW94584;EAW94585;EAW94586;EAW94587;NP_006098;NP_057508;O95232;XP_005257505;XP_005257506;XP_005257507;XP_005257508;XP_005257509;XP_005257511;XP_005257512;XP_006722006 Hs.130293 1778144;2137924;2139184;2169381;2170036;2190505 D17S1482E;EST12G4;RH45275;RH45304;SGC31696;SHGC-2641 CRA;CREAP-1;CROP;LUC7A;OA48-18;hLuc7A CRE-associated protein 1;OTTHUMP00000221730;OTTHUMP00000221731;OTTHUMP00000221733;OTTHUMP00000221734;cAMP regulatory element-associated protein 1;cisplatin resistance associated overexpressed protein;cisplatin resistance-associated overexpressed protein;cisplatin resistance-associated-overexpressed protein;luc7-like protein 3;okadaic acid-inducible phosphoprotein OA48-18 APPROVED protein-coding ENSG00000108848 HGNC:24309 16759 609434 REVIEWED 68549 LTBP2 latent transforming growth factor beta binding protein 2 The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008] 14 14 14 q24 55003271 55117403 - 74964886 75079034 - 74498183 74612331 - 1580863;6480464;7240710;8554872;8699517 10743502;10930463;11104663;11870232;12477932;12508121;12716902;15063762;17293099;17474147;17581631;18697872;19182256;19361779;19453261;19656777;19681046;19817957;19851296;20179738;20198315;20301293;20301314;20424473;20587546;20617341;20881960;21041550;21081970;21540769;21698479;21700711;21737283;22025892;22515403;22539340;22587491;22743615;22827404;22924778;23218701;23378721;23401661;7719025;7798248;8697098;8964588;9150447;9685426;9709808 4053 G3V3X5;G3V511;H0YJ20;Q14767 AB209865;ABBA01030715;ABBA01030716;ABBA01030717;AC005479;AC013451;AF113211;AMYH02029519;AMYH02029520;BC032434;BC047742;BC062686;BC078659;CB054045;CH471061;NG_021486;NM_000428;S82451;Z37976 AAB37459;AAF87081;AAG39282;AAH78659;BAD93102;CAA86030;EAW81182;EAW81183;NP_000419;Q14767 Hs.512776;Hs.597522 1670499;1682565;1716945;2140600;2143576;2151600;2162647;5096485;5119462 D14S1174;D14S1193;D14S1250;G35817;RH11328;RH121852;RH70743;RH98192;SHGC-24140 C14orf141;GLC3D;LTBP-2;LTBP3;MSPKA;MSTP031;WMS3 OTTHUMP00000246131;OTTHUMP00000246132;OTTHUMP00000246133;latent-transforming growth factor beta-binding protein 2 APPROVED protein-coding ENSG00000119681 HGNC:6715 03650 251750;602091;613086;613097;614819 REVIEWED 7246623 LUCAT1 lung cancer associated transcript 1 (non-protein coding) 5 5 5 q14.3 86508816 86512266 - 90598803 90610219 - 91302986 91314402 - 14702039;16344560;23672216 100505994 ABBA01062166;ABBA01062167;AC123595;AK091866;AMYH02011786;BQ232757;DA373878;DA375303;DA713469;HG498233;HG498235;NR_103548;NR_103549 Hs.628363;Hs.745403 5022651;5111739 AL033747;D11S2921 RP11-213H15.3;RP11-213H15.4;SCAL1 ncrna ENSG00000248323 HGNC:48498 VALIDATED 1316796 LUC7L LUC7-like (S. cerevisiae) The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 437860 478332 - 238970 279449 - 188971 229450 - 1580863;6480464 11157797;11170747;12477932;14702039;15383276;15489334;15840729;16169070;17081983;17207965;17353931;19615732;19913121;20139978;20508642;20628086;21139048;21988832;22365833;22990118;23263863;23455924;23602568;23940030;24250222;24457600;24816145;8125298 55692 A8MYV2;B8ZZ08;B8ZZ09;B8ZZ10;B8ZZ12;D3DU41;F2Z322;F8WBC1;H7C2U4;Q1W6G4;Q9NQ29 ABBA01030384;ABBA01030385;ABBA01030386;AE006462;AJ404326;AK001093;AK097974;AK223084;AK309376;AMYH02031182;AMYH02031183;AX875997;AY005111;BC003194;BC065198;BX647161;CH471112;DQ431198;NM_018032;NM_201412;XM_005255426;XM_005255427;XM_005255428;XM_005255429;XM_006720903;XM_006720904;Z69706;Z69890;Z84716 AAG22846;AAH03194;AAH65198;AAK61218;ABD95913;ADQ32579;BAA91500;BAD96804;CAB93981;CAB93982;CAE89085;CAM26669;CAM26670;CAM26671;CAM26672;CAX15222;CAX15223;CAX15224;EAW85850;EAW85851;EAW85852;EAW85853;EAW85854;EAW85855;EAW85856;EAW85857;EAW85858;EAW85859;EAW85860;NP_060502;NP_958815;Q9NQ29;XP_005255483;XP_005255484;XP_005255485;XP_005255486;XP_006720966;XP_006720967 Hs.16803 1687241;1799810;1803128;1803758;1805244;1805714;1805938;1811572;1811938;1815166;1820348;1823126;1824094;1826162;1826320;1829770;1831270;1831808;1835696;1836190;1836922;1837236;1838152;1838876;1844920;1846206;1846310;2047756;2047758;2047760;2047762;2047764;2047766;2047768;2047770;2047772;2047774;2047776;2047778;2047780;2047782;2047784;2047786;2047788;2047790;2047792;2047794;2047796;2047798;2047800;2047802;2047804;2047806;2047808;2047810;2047812;2047814;2047816;2047818;2047820;2047822;2047824;2047826;2047828;2047830;2047832;2047834;2047836;2047838;2047840;2047842;2047844;2047846;2047848;2047850;2047852;2047854;2047856;2047858;2047860;2047862;2047864;2047866;2047868;2047870;2047872;2047874;2047876;2047878;2047880;2047882;2047884;2047886;2047888;2047890;2047892;2047894;2047896;2047898;2047900;2047902;2047904;2047906;2047908;2047910;2047912;2047914;2047916;2047918;2047920;2047922;2047924;2047926;2047928;2047930;2047932;2047934;2047936;2047938;2047940;2047942;2047944;2047946;2047948;2047950;2047952;2047954;2047956;2047958;2047960;2047962;2047964;2047966;2047968;2047970;2047972;2047974;2047976;2047978;2047980;2047982;2047984;2047986;2047988;2047990;2047992;2047994;2047996;2047998;2048000;2048002;2048004;2048006;2048008;2048010;2048012;2048014;2048016;2048018;2048020;2048022;2048024;2048026;2048028;2048030;2048032;2048034;2048036;2048038;2048040;2048042;2048044;2048046;2048048;2048050;2048052;2048054;2048056;2048058;2048060;2048062;2048064;2048066;2048068;2048070;2048072;2048074;2048076;2048078;2048080;2048082;2048084;2048086;2104478;2104480;2104482;2104484;2104486;2104488;2104490;2104492;2104494;2104496;2104498;2104500;2104502;2104504;2104506;2104508;2104510;2104512;2104514;2104516;2104518;2104520;2107295;2171334;5016478;5109281;5118250 D11S3159;D1S1425;ECD00759;ECD02455;ECD02786;ECD03567;ECD03807;ECD03922;ECD06789;ECD06973;ECD08617;ECD11249;ECD12651;ECD13143;ECD14191;ECD14273;ECD16017;ECD16771;ECD17042;ECD19005;ECD19256;ECD19625;ECD19785;ECD20248;ECD20617;ECD23676;ECD24323;ECD24375;GDB:434012;LUC7L__7341;REN95014;REN95015;REN95016;REN95017;REN95018;REN95019;REN95020;REN95021;REN95022;REN95023;REN95024;REN95025;REN95026;REN95027;REN95028;REN95029;REN95030;REN95031;REN95032;REN95033;REN95034;REN95035;REN95036;REN95037;REN95038;REN95039;REN95040;REN95041;REN95042;REN95043;REN95044;REN95045;REN95046;REN95047;REN95048;REN95049;REN95050;REN95051;REN95052;REN95053;REN95054;REN95055;REN95056;REN95057;REN95058;REN95059;REN95060;REN95062;REN95063;REN95064;REN95065;REN95066;REN95067;REN95068;REN95069;REN95070;REN95071;REN95072;REN95073;REN95074;REN95075;REN95076;REN95077;REN95078;REN95079;REN95080;REN95081;REN95082;REN95083;REN95084;REN95085;REN95086;REN95087;REN95088;REN95089;REN95090;REN95091;REN95092;REN95093;REN95094;REN95095;REN95096;REN95097;REN95098;REN95099;REN95100;REN95101;REN95102;REN95103;REN95104;REN95105;REN95106;REN95107;REN95108;REN95109;REN95110;REN95111;REN95112;REN95113;REN95114;REN95115;REN95116;REN95117;REN95118;REN95119;REN95120;REN95121;REN95122;REN95123;REN95124;REN95125;REN95126;REN95127;REN95128;REN95129;REN95130;REN95131;REN95132;REN95133;REN95134;REN95135;REN95136;REN95137;REN95138;REN95139;REN95140;REN95141;REN95142;REN95143;REN95144;REN95145;REN95146;REN95147;REN95148;REN95149;REN95150;REN95151;REN95152;REN95153;REN95154;REN95155;REN95156;REN95157;REN95158;REN95159;REN95160;REN95161;REN95162;REN95163;REN95164;REN95165;REN95166;REN95167;REN95168;REN95169;REN95170;REN95171;REN95172;REN95173;REN95174;REN95175;REN95176;REN95177;REN95178;REN95179;REN95180;RH46576;SHGC-60792;stSG608935;stSG608936;stSG608937;stSG608938;stSG608939;stSG608940;stSG608941;stSG608942;stSG608943;stSG608945;stSG608946;stSG608947;stSG608948;stSG608949;stSG608950;stSG608952;stSG608954;stSG608955;stSG608956;stSG608957;stSG608960;stSG608962 FLJ10231;LUC7-LIKE;LUC7B1;Luc7;SR+89;hLuc7B1 OTTHUMP00000067165;OTTHUMP00000067166;OTTHUMP00000067167;OTTHUMP00000194916;putative RNA-binding protein Luc7-like 1;putative SR protein LUC7B1;sarcoplasmic reticulum protein LUC7B1 APPROVED protein-coding ENSG00000007392 HGNC:6723 08476 607782 VALIDATED 1322590 LTN1 listerin E3 ubiquitin protein ligase 1 Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010] 21 21 21 q22.11 15483199 15548010 - 30300466 30365277 - 28928144 28992956 - 1580863;6480464;8554872 10830953;12477932;14702039;19196968;19690564;20195357;20379614;20835226;21139048;21565611;21697133;21890473;21903422;22118674;22678362;23956138;24811749;25036637;9872452 26046 H7BYG8;O94822;S4R3T2 AB018257;AB621822;ABBA01057245;ABBA01057246;ABBA01057247;AF129075;AF161350;AF260011;AK001915;AK023499;AL163248;AL163249;AMYH02037688;BC007525;BC029371;BC031633;BC045726;BC140790;BC150284;BF059116;CH471079;DB452437;KF511370;NM_015565;XM_006723987 AAF28910;AAH29371;AAI40791;AAI50285;BAA34434;BAA91976;BAB14589;BAK64157;CAB90429;CAB90430;EAX09935;EAX09936;EAX09937;NP_056380;O94822;XP_006724050 Hs.288773 1650429;1659060;1669539;1673302;1678369;1731391;1734362;2218676;5492149 AFM144xc3;D21S1223;D21S1701;G34593;RH93127;SHGC-7635;SHGC-87530;ZNF294__4812;Zfp294 C21orf10;C21orf98;FLJ11053;KIAA0714;RNF160;ZNF294 E3 ubiquitin-protein ligase listerin;OTTHUMP00000096472;RING finger protein 160;zinc finger protein 294 APPROVED protein-coding ENSG00000198862 HGNC:13082 10327 613083 VALIDATED 1318546 LUC7L2 LUC7-like 2 (S. cerevisiae) This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 7 7 7 q34 133782802 133846369 + 139025105 139108203 + 139340359 139423457 + 737633;1580863;6480464;8554872 12477932 10810093;12777385;12853948;14702039;15231748;15324660;15383276;15489334;15635413;16051665;16169070;16344560;17043677;17081983;17207965;17353931;17361185;17643375;17656373;17726058;18781797;19322201;19454010;19574390;19584937;19710015;19953087;20020773;20098747;21139048;21145461;21832049;21890473;21900206;21906983;22863883;22939629;22990118;23125841;23463506;23602568;24429498;24457600;24583282;24654937;24816145 51631 Q9Y383 ABBA01001188;AC083880;AC083883;AF151817;AF151832;AK001476;AK001519;AK022895;AK092044;AK093864;AK094081;AK095839;AK298166;AMYH02016884;AMYH02016885;AMYH02016886;AU144525;BC017163;BC041001;BC042625;BC050708;BC056886;CH236950;CH471070;DA342563;DB086483;HY018775;NG_030012;NM_001244585;NM_001270643;NM_016019 AAD34054;AAD34069;AAH17163;AAH42625;AAH50708;AAH56886;AAS07477;ACE86770;ACE87456;ADQ32722;BAA91713;BAA91737;BAB14297;BAG52473;BAG52777;BAG52810;BAH12736;EAW83916;EAW83917;EAW83918;NP_001231514;NP_001257572;NP_057103;Q9Y383 Hs.731488 1662890;1674956;1676774;1697928;1847024;1857073;2120401;2143432;5014003;5015619;5015861;5016851;5021228;5024413;5037552;7185938 D10S16;D11S3114;D17S1136;D7S1625;D8S2279;GDB:312794;L17877;RH102493;RH36239;RH80031;RH91232;SGC30686;SGC38047;SHGC-17271;SHGC-37384 CGI-59;CGI-74;FLJ10657;LUC7B2;hLuc7B2 H_NH0792N18.3;OTTHUMP00000200420;putative RNA-binding protein Luc7-like 2 APPROVED protein-coding ENSG00000146963 HGNC:21608 17456 613056 REVIEWED 8699436 LURAP1L-AS1 LURAP1L antisense RNA 1 9 9 p23 12758801 12759752 - 12758802 12790765 - 16344560 101929467 ABBA01065319;AI521216;AL138753;AL157828;AMYH02019173;AMYH02019174;BQ416907;DA290299;DA711357;NR_125775;XR_242532;XR_250448;XR_252513;XR_426374;XR_428447;XR_432374 Hs.586443 ncrna HGNC:49761 VALIDATED 1317610 LURAP1L leucine rich adaptor protein 1-like INTERACTS WITH 1-nitropyrene; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 9 9 9 p23 12707578 12755676 + 12774989 12823059 + 12774990 12823060 + 6480464 12477932;12766061;14702039;15164053;15221005;15489334;16341674;21832049;25107909 286343 Q8IV03 AB073606;ABBA01065319;AK074752;AK095824;AL138753;AL157828;AMYH02019173;AMYH02019174;AMYH02019175;BC036923;BE464662;BM739457;BX508229;CD678148;NM_203403;XM_005251443 AAH36923;ADR82650;BAC04633;BAD38643;NP_981948;Q8IV03;XP_005251500 Hs.445356 1670705;1670707;2170010 RH16529;SHGC-33182;WI-13707 C9orf150;FLJ38505;FLJ90271;HYST0841;LRAP35b;MGC46502;bA3L8.2 OTTHUMP00000021058;hypothetical protein LOC286343;leucine repeat adaptor protein 35b;uncharacterized protein C9orf150 APPROVED protein-coding HGNC:31452 12944 VALIDATED 1605156 LURAP1 leucine rich adaptor protein 1 INVOLVED IN positive regulation of cytokine production; positive regulation of I-kappaB kinase/NF-kappaB signaling; FOUND IN cytoplasm; INTERACTS WITH melphalan 1 1 1 p34 44956745 44974672 + 46669006 46686928 + 46203334 46221256 + 6480464 12477932;14702039;15489334;16189514;16710414;18854160;21048106 541468 Q96LR2 ABBA01050844;ABBA01050845;AI077554;AK057892;AL672043;AMYH02000954;BC034422;BX370151;CH471059;CR746264;NG_009205;NM_001013615 AAH34422;ADZ15857;BAB71608;EAX06931;NP_001013633;Q96LR2 Hs.568642 5016352 L30021 C1orf190;FLJ25163;LRAP35a;LRP35A NF-kappa-B activator C1orf190;OTTHUMP00000008903;hypothetical protein LOC541468;leucine repeat adapter protein 35A;leucine repeat adaptor protein 35a APPROVED protein-coding ENSG00000171357 HGNC:32327 18478 VALIDATED 1344357 LUM lumican This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008] 12 12 12 q21.33 91168384 91176693 - 91497232 91505542 - 91103455 91111765 - 1582117;1582123;1582120;1582121;1582122;1580863;2317230;2317695;2317682;2317692;2317694;724427;6480464;8554872 11348051;11890723;12645630;12787392;1385211;14996436;15871312;15970583;17671699;18482974;19843670 10656267;10734230;10802664;10892350;11016924;11956587;12366811;12477932;14718574;14720136;14760718;15149859;15336555;15466200;15489334;15505028;16169070;16335952;16760896;16902402;17050378;17558846;18093185;18477477;18620607;19008226;19012040;19020750;19036156;19060265;19330863;19394140;19569180;19616852;19643966;19686741;19913121;20010793;20138170;20357198;20360993;20628086;20819773;21421073;21885486;21988832;22073367;22228989;22441960;22711178;22721676;22809227;22814255;23145541;23284291;23399832;23480731;23643269;23719483;23747391;23846574;24061151;24367547;24376456;24927138;7558030;7665616;8125298;8595806;8889549 4060 P51884;Q53FV4 AA036658;ABBA01053409;AC078873;AK223177;AK312682;AMYH02026915;BC007038;BC035997;BG548387;BT006707;CH471054;NM_002345;U18728;U21128 AAA85268;AAA91639;AAH07038;AAH35997;AAP35353;ABM83480;ABM86691;BAD96897;BAG35562;EAW97449;NP_002336;P51884 Hs.406475 1661393;1667339;1669395;1669716;1732580;1745251;1790229;2159366 D12S805;GDB:596270;RH18011;RH44503;RH48690;RH69649;RME09;SHGC-35342 LDC;SLRR2D KSPG lumican;OTTHUMP00000242889;keratan sulfate proteoglycan lumican;lumican proteoglycan APPROVED protein-coding HGNC:6724 02793 600616 REVIEWED 7204786 LUZP4P1 leucine zipper protein 4 pseudogene 1 10 21536681 21537001 + 101060111 ABBA01034505;AL731547;AMYH01002169 pseudo HGNC:44904 MODEL 736317 LUZP1 leucine zipper protein 1 This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 1 1 1 p36 21732655 21817493 - 23410516 23504301 - 23084023 23168858 - 61655;6480464;8554872 8812416 12477932;12693554;14702039;15342556;15489334;16710414;17081983;19946888;20508642;21139048;21145461;22266860;22505724;23000965;24255178;24816145 7798 E5RFK8;E5RHU7;Q05DE3;Q86V48 ABBA01059861;ABBA01059862;AK000297;AK025345;AK074153;AK093016;AL031428;AL049576;AL161672;AL831896;AMYH02000483;AMYH02000484;AMYH02000485;AMYH02000486;AMYH02000487;BC002428;BC016175;BC033219;BC051733;BP200621;CH471134;NM_001142546;NM_033631 AAH16175;AAH33219;AAH51733;ABZ92513;BAB84979;EAW95034;EAW95035;EAW95036;NP_001136018;NP_361013;Q86V48 Hs.257900 1339560;1672567;1687542;1732874;1758797;1790289;1847438;2141863;2149024;2160262;2162910;5015619;5037552 D11S3114;D14S1232;D1S1299;D1S458;D8S2279;KS165;RH16407;RH80648;SHGC-151074;SHGC-33933;SHGC-74361;SHGC-74367;SHGC-74372 FLJ35697;KIAA0601;LUZP OTTHUMP00000003262 APPROVED protein-coding ENSG00000169641 HGNC:14985 03250 601422 REVIEWED 2290193 LUZP6 leucine zipper protein 6 A bi-cistronic transcript encodes the products of both the myotrophin and leucine zipper protein 6 genes, which are located on chromosome 7. A cryptic ORF at the 3' end of the myotrophin transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008] 7 7 7 q33 130348855 130399560 - 135611503 135662204 - 135926755 135977456 - 6480464 16344560;16982933 767558 Q538Z0 AA742560;ABBA01001128;ABBA01001129;AC015987;AF106075;AK055660;AK056225;AK309816;AL110137;AL834231;AMYH02016827;AMYH02016828;AY611627;BC028093;BC034722;CH236950;DA325904;NM_001128619 AAH28093;AAP97226;AAU14892;BAG51651;CAD38909;NP_001122091;Q538Z0 Hs.602015 1770135;1775406;1786246;2153263 RH70309;SHGC-141825;STS-N23029;WI-21170 MPD6;MTPNUT myeloproliferative disease-associated 6 kDa antigen;myeloproliferative disease-associated SEREX antigen;myeloproliferative disease-associated antigen, 6-kD;myotrophin 3'UTR transcript APPROVED protein-coding HGNC:33955 611050 REVIEWED 1351321 LY6E lymphocyte antigen 6 complex, locus E INVOLVED IN adrenal gland development (inferred); cell surface receptor signaling pathway (inferred); epinephrine secretion (inferred); FOUND IN anchored component of membrane (inferred); integral component of plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; 3-methylcholanthrene; all-trans-retinoic acid 8 8 8 q24.3 140409515 140413440 + 144099902 144103827 + 143018485 143022410 + 1580863;6480464 11576217;11784869;12477932;12516096;15489334;16712791;18755862;18990604;19672991;20237496;21963094;8125298;8650192;8757598;9366413;9551972;9575182 4061 E5RGI6;E5RI33;E5RI58;E5RIQ1;E7EWF8;Q16553 ABBA01005278;AC083982;AF085875;AK129615;AK223074;AK311983;AMYH02018931;BC003392;BC119708;BC119709;BU625581;CB138313;CH471162;DB458093;NM_001127213;NM_002346;U42376;U56145;U66711;Z68179 AAB07513;AAC50519;AAC50616;AAH03392;AAI19709;AAI19710;BAD96794;BAG34922;CAA92321;EAW82285;EAW82286;EAW82287;EAW82288;EAW82289;EAW82290;NP_001120685;NP_002337;Q16553 Hs.521903 1676646 RH80139 RIG-E;RIGE;SCA-2;SCA2;TSA-1;ly-6E OTTHUMP00000227386;OTTHUMP00000227387;OTTHUMP00000227407;OTTHUMP00000227411;OTTHUMP00000227413;OTTHUMP00000227414;OTTHUMP00000227415;OTTHUMP00000227416;OTTHUMP00000227418;OTTHUMP00000227419;lymphocyte antigen 6E;retinoic acid induced gene E;retinoic acid-induced gene E protein;stem cell antigen 2;thymic shared antigen 1 protein-coding ENSG00000160932 HGNC:6727 03227 601384 VALIDATED 1313477 LTF lactotransferrin This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] 3 3 3 p21.31 46414868 46443775 - 46477496 46506598 - 46436005 46465142 - 1580863;6480464;7243106;7243107;7243109;7243948;7243943;7243953;7243945;7243861;7243860;8554872 10030017;16905637;17922408;19202053;21532506;23201854;23425819;8296641;9791051 10089347;10089508;10340976;10558865;10666301;10944471;11083624;11083760;11313366;11549422;11675140;11697537;11702692;11730482;11748357;11756570;11787671;11907569;11908638;11908641;11911118;11937551;12037568;12065686;12097406;12103434;12165435;12165535;12296849;12438385;12450380;12477932;12522210;12525164;12535064;12563088;12565886;12646274;12693969;12710738;12766201;12774664;12788072;12826902;1327110;1369293;14573629;1464627;14702039;14717698;1480183;15166119;15221967;15222480;15222484;15222485;15297857;15299793;15342556;15364102;15378004;1544444;15489334;15525592;15543612;15588942;15709021;15793153;15851553;15955101;15993972;1599934;16152584;16208406;16261253;16261256;16432833;16502470;1661314;16644090;16650524;16769765;16787913;16820307;16842782;16928883;16936800;16936805;16936811;16954396;17015741;17030385;1703177;17079302;17208010;17211147;17342646;17353931;17390038;17461450;17475866;17476971;17503830;17515863;17543335;17568188;17597152;17601350;17703412;17947640;18022620;18156281;18183929;18285402;18453607;18573312;18619616;18697201;18785755;18973542;18977241;19033648;19199708;19240970;19258923;19282435;19334538;19348738;19382280;19435495;19454813;19563039;19651866;19834535;19916937;19997820;20136960;20155438;20207115;20237496;20238236;20345905;20360068;20379614;20401683;20404350;20411301;20452482;20485928;2049066;20503287;20587610;20594128;20598696;20668874;20673868;20922188;20963400;20972893;21055448;21139048;21163060;21400573;21502085;21525168;21572958;21847071;21935933;21937479;22006997;22011934;22118674;22173721;22226679;22261723;22320386;22380846;22406253;22433582;22523385;22553915;22586326;22731992;22763972;22806010;22900286;23069661;23077236;23314748;23333090;23427237;23460521;23479198;23602568;2374734;2402455;24077968;24340941;24654937;2585506;2981589;3028636;3356163;3477300;3995055;6510420;6794640;7049727;7744878;7762432;8870657;9003186;9122171;9223490;9359845;9770539;9781360;9873069 4057 C9JCF5;E7EQB2;E7ER44;P02788;V9HWI4 ABBA01024714;AC098613;AF332168;AF508798;AK093852;AK290859;AK292813;AK298035;AK303889;AK303995;AK316330;AMYH02006670;AY137470;AY156717;AY165046;AY178998;AY360320;AY493417;AY875691;BC015822;BC015823;BC022347;BP342557;CD722125;CH471055;DQ522304;EU779935;EU794669;KF510846;KF992208;M18642;M73700;M83202;M83205;M93150;NG_023257;NM_001199149;NM_002343;S52659;U07643;U84119;U95626;X52941;X53961 AAA36159;AAA58656;AAA59479;AAA59511;AAA86665;AAB24877;AAB57795;AAB60324;AAG48753;AAH15822;AAH15823;AAH22347;AAN11304;AAN63998;AAN75578;AAN84790;AAO14686;AAR12276;AAS72878;AAW71443;ABF69105;ABM83781;ABM87101;ACF19793;ACJ13723;AHL67504;BAF83548;BAF85502;BAG52774;BAG64824;BAG64912;BAH12708;BAH14701;CAA37116;CAA37914;EAW64767;NP_001186078;NP_002334;P02788 Hs.529517 1713403;1721261;1731407;1741447;1857875 D3S1478;D3S4169;G59627;GDB:181215;RH119558 GIG12;HEL110;HLF2;LF OTTHUMP00000209779;OTTHUMP00000209780;OTTHUMP00000209781;epididymis luminal protein 110;growth-inhibiting protein 12;kaliocin-1;lactoferricin;lactoferrin;lactoferroxin;neutrophil lactoferrin;talalactoferrin APPROVED protein-coding ENSG00000012223 HGNC:6720 01028 150210 REVIEWED 737325 LXN latexin This gene encodes the only known protein inhibitor of zinc-dependent metallocarboxypeptidases. [provided by RefSeq, Oct 2008] 3 3 3 q25.32 156806788 156813067 - 158384203 158390482 - 158666414 158672693 - 1580863;6480464 11455960;12477932;15489334;15738388;17207965;17353931;21466706;21567403;22939629;23028717;23364479;23712706;24399246 56925 H7C5A4;Q9BS40 ABBA01058813;AC025033;AC080013;AF087851;AF282594;AF282626;AF303587;AMYH02008000;BC005346;BC008438;CH471052;NG_008441;NM_020169 AAF82807;AAH05346;AAH08438;AAK69518;AAL09331;AAP97162;ACE86723;ACE87409;ADQ32822;EAW78683;EAW78684;NP_064554;Q9BS40 Hs.478067 1698760 RH102943 ECI;MUM;TCI OTTHUMP00000213517;endogenous carboxypeptidase inhibitor;tissue carboxypeptidase inhibitor APPROVED protein-coding ENSG00000079257 HGNC:13347 14327 609305 REVIEWED 1346509 LY6G5C lymphocyte antigen 6 complex, locus G5C LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] 6 6 6 p21.33 33242682 33246372 - 31644461 31648150 - 31676684 31680373 - 6480464 12079290;17192395;18835879;19851445 80741 F8WBQ4;H7BYB1;Q5SRR4 AA179679;AA731226;ABBA01038084;AF129756;AJ315540;AJ315541;AJ315542;AJ315543;AJ315544;AL662899;AL670886;AL805934;AMYH02013452;BA000025;BX511262;CH471081;CR354443;CR753842;CR759761;NM_025262 AAD18080;AAI40343;AAI41638;BAB63384;CAC85522;CAC85542;EAX03478;EAX03479;EAX03480;EAX03481;NP_079538;Q5SRR4 Hs.25738 1858487;5109281 D1S1425;RH15840 C6orf20;G5c;LY6G5CA;LY6G5CB;NG33 OTTHUMP00000063241;lymphocyte antigen 6 complex locus protein G5c;lymphocyte antigen-6 G5C APPROVED protein-coding ENSG00000204428 HGNC:13932 14328 610434 VALIDATED 1352485 LUZP4 leucine zipper protein 4 This gene encodes a protein which contains two sets of heptad repeats in the N-terminus; the C-terminal most repeats form a leucine zipper domain. The presence of a leucine zipper domain suggests the protein may have DNA-binding activity and the protein has been shown to localize with a spliceosome protein (PMID: 12032826). [provided by RefSeq, Aug 2011] X X X q23 114959452 114977280 + 114524292 114542121 + 115289726 115307556 + 6480464 11051238;12032826;12477932;14702039;16344560 51213 Q5JX98;Q9P127 ABBA01053660;ABBA01053661;ABBA01053662;ABBA01053663;AC239923;AF124430;AK093369;AK314765;AL109751;AMYH02040274;AW118228;BC128134;BC128135;CH471120;DB035084;DB041564;HC044609;NG_021297;NM_016383;XM_005268343 AAF28870;AAI28135;AAI28136;BAG37303;BAG52698;CAC09922;CAI42482;CBH30634;EAX02616;NP_057467;Q9P127;XP_005268400 Hs.242183 CT-28;CT-8;CT28;HOM-TES-85 HOM-TES-85 tumor antigen;OTTHUMP00000023874;OTTHUMP00000023875;cancer/testis antigen 28;tumor antigen HOM-TES-85 APPROVED protein-coding ENSG00000102021 HGNC:24971 06589 300616 REVIEWED 1344908 LY6G6C lymphocyte antigen 6 complex, locus G6C LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] 6 6 6 p21.33 33284651 33287736 - 31686425 31689511 - 31718648 31721734 - 1304532;6480464 10384126 12079290;12477932;12975309;14656967;19851445;19913121;20628086 80740 G3V1A8;O95867 ABBA01038084;AF129756;AJ012008;AJ315533;AJ315534;AL662899;AL670886;AL844216;AMYH02013453;AY359119;BA000025;BC036302;BX248244;CH471081;CR354443;CR759787;CR936239;NG_029044;NM_025261 AAD18076;AAH36302;AAQ89477;BAB63379;CAB46081;CAC85539;EAX03490;EAX03491;NP_079537;O95867 Hs.732272 2107297;2130309;2144142 LY6G6C__7344;RH65853;SHGC-57410 C6orf24;G6c;NG24 OTTHUMP00000029367;lymphocyte antigen 6 complex locus protein G6c;lymphocyte antigen-6 G6C APPROVED protein-coding ENSG00000204421 HGNC:13936 14329 610435 VALIDATED 1314571 LY6D lymphocyte antigen 6 complex, locus D INVOLVED IN cell adhesion (inferred); lymphocyte differentiation (inferred); response to stilbenoid (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN anchored component of membrane (inferred); cell surface (inferred); membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; diazinon 8 8 8 q24 140176029 140177739 - 143866298 143868008 - 142784882 142786592 - 1580863;6480464;8554872 12477932;15340161;15489334;17207965;17474147;18187620;21988832;23075424;23672314;7790363;8889548;9366413;9551972 8581 Q14210;Q8N4D8 ABBA01005288;AC083841;AK312164;AMYH02018927;BC022806;BC031330;BC034542;BM019592;BU689475;CH471162;NM_003695;U66837;X82693;Y12642 AAB07524;AAH22806;AAH31330;AAH34542;ADQ32149;BAG35098;CAA58014;CAA73189;EAW82297;EAW82298;NP_003686;Q14210 Hs.415762 2137945 RH18136 E48;Ly-6D OTTHUMP00000227232;e48 antigen;lymphocyte antigen 6D protein-coding ENSG00000167656 HGNC:13348 09370 606204 VALIDATED 1349012 LY6G5B lymphocyte antigen 6 complex, locus G5B LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] 6 6 6 p21.3 33236949 33238448 + 31638728 31640227 + 31670951 31672450 + 6480464 12079290;17008713;17975119;19023099;19143814;19738201;19851445;19913121;20628086;21963094;23443559;23521802;8812450 58496 N0E641;Q8NDX9 ABBA01038084;AF129756;AJ245417;AJ315545;AK289364;AL662899;AL670886;AL805934;AMYH02013452;BA000025;BX511262;CF264683;CH471081;CR354443;CR753842;CR759761;HE864450;HE864451;NM_021221 AAF04397;AAI40261;AAI46530;AAI72589;BAB63385;BAF82053;CAB52191;CAC85543;CCI79687;CCI79688;EAX03476;EAX03477;NP_067044;Q8NDX9 Hs.708719 1712122;1712306;1790303;2116736;2189381 CSNK2B;D6S2007;G54062;G54110;MARC_3347-3348:991937077:1 C6orf19;G5b OTTHUMP00000060098;OTTHUMP00000060099;OTTHUMP00000205616;lymphocyte antigen 6 complex locus protein G5b;lymphocyte antigen-6 G5B;lymphocyte antigen-6 G5B splicing isoform 690;lymphocyte antigen-6 G5B splicing isoform 837 APPROVED protein-coding HGNC:13931 10063 610433 VALIDATED 1348643 LY6G6E lymphocyte antigen 6 complex, locus G6E (pseudogene) LY6G6E belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] 6 6 6 p21.3 33277981 33280070 - 31679753 31681842 - 31711976 31714065 - 6480464 10384126;10553908;12079290;12477932;16344560;17008713;19116923;19851445 79136 A2ABS3;A2ABS4;B7ZCA4;Q9UKT1 ABBA01038084;AF129756;AJ245419;AJ315538;AJ315539;AL662899;AL670886;AL844216;AMYH02013453;BA000025;BC069141;BX248244;CH471081;CR354443;CR759787;CR936239;DA786728;NR_003673;NR_024541 AAF04398;BAB63381;CAB52193;EAX03488;EAX03489 Hs.247883 1338813;2106199;2106201;2189747;5494023;7183494;7184081;7184139;7184140;7185886;7187268 22-38114;D6S273;D6S2783;N3_2_4;UniSTS:480737 C6orf22;FLJ50806;G6e APPROVED pseudo HGNC:13934 14330 610437 VALIDATED 1347178 LUZP2 leucine zipper protein 2 This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 11 11 11 p14.3 24655784 25243047 + 24518516 25104186 + 24496970 25082640 + 6480464;8554872 12477932;12856284;12975309;16344560;18519826;19084217;20379614;20700443;22589738;22881374 338645 E9PP05;Q86TE4 ABBA01060996;ABBA01060997;ABBA01060998;ABBA01060999;AC023869;AC040968;AC067902;AC087373;AC115990;AC135168;AK126974;AK127695;AK309077;AL832641;AMYH02024464;AMYH02024465;AMYH02024466;AMYH02024467;AMYH02024468;AMYH02024469;AMYH02024470;AMYH02024471;AMYH02024472;AY164460;AY358386;BC042863;BC132829;BC144177;BC151234;CH471064;DA706662;NG_030588;NM_001009909;NM_001252008;NM_001252010;X81895;XM_005252887;XM_005252890 AAI32830;AAQ88752;ADR83136;BAC87089;CAD90000;EAW68308;NP_001009909;NP_001238937;NP_001238939;Q86TE4;XP_005252944;XP_005252947 Hs.144138;Hs.655032 1340392;1342065;1645805;1694654;1709050;1711006;1722469;1737647;1752639;1755157;1763415;1779097;2138573;2167140;2174355;2186699;5022450 D10S275;D11S1090;D11S2278E;D11S3251;D11S4084;D11S4163;D11S4387;D11S4566;G43504;G60158;RH78228;SHGC-106494;SHGC-142080;SHGC-147128;SHGC-17511;SHGC-79632;SHGC-84882 FLJ45795;KFSP2566;PRO6246 OTTHUMP00000231905;OTTHUMP00000231906 APPROVED protein-coding ENSG00000187398 HGNC:23206 17348 608178 REVIEWED 1342827 LY6G6F lymphocyte antigen 6 complex, locus G6F The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008] 6 6 6 p21 33272902 33276590 + 31674625 31678372 + 31706907 31710595 + 6480464 12477932;12852788;17192395;19851445;20587610 259215 Q5SQ64 ABBA01038084;AF129756;AJ496460;AL662899;AL670886;AL805934;AMYH02013453;BA000025;BC137212;BC137213;BX248244;CH471081;CR354443;CR753842;CR759787;NM_001003693 AAD18078;AAI37213;AAI37214;BAB63382;CAD42968;EAX03487;NP_001003693;Q5SQ64 Hs.591794 2106197 D6S2760 C6orf21;G6f;LY6G6D;NG32 OTTHUMP00000029369;lymphocyte antigen 6 complex locus protein G6f;lymphocyte antigen 6 complex, locus G6D APPROVED protein-coding ENSG00000204424 HGNC:13933 12878 611404 PROVISIONAL 1323593 LY6H lymphocyte antigen 6 complex, locus H INVOLVED IN nervous system development (inferred); organ morphogenesis (inferred); FOUND IN anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH bilirubin; cytarabine; nickel atom 8 8 8 q24.3 140549466 140552209 - 144239331 144242053 - 143157914 143160636 - 1580863;6480464 12477932;15342556;15489334;16169070;20237496;3028776;9799603 4062 O94772 AB012293;ABBA01005271;AC083982;AK314139;AMYH02018932;AMYH02018933;BC028894;BC030192;BC053355;BI914261;BP347868;CH471162;CR457034;DB471677;DB502453;NM_001130478;NM_001135655;NM_002347;XM_006716559;XM_006725098 AAH28894;AAH30192;ABM84514;ABM85870;BAA34115;BAG36829;CAG33315;EAW82277;EAW82279;NP_001123950;NP_001129127;NP_002338;O94772;XP_006716622;XP_006725161 Hs.159590 NMLY6;ly-6H OTTHUMP00000206889;OTTHUMP00000206890;OTTHUMP00000206891;lymphocyte antigen 6H protein-coding ENSG00000176956 HGNC:6728 04691 603625 VALIDATED 1345514 LY6K lymphocyte antigen 6 complex, locus K FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; crocidolite asbestos 8 8 8 q24.3 140092617 140096675 + 143781529 143785588 + 142700111 142704170 + 737633;6480464 12477932 12516096;14702039;16751776;17784873;18029348;18089789;20237496;21963094;21987572;22072328;22988241 54742 E5RGJ8;H0YB07;Q17RY6 ABBA01005289;AC108002;AI740834;AJ001348;AK092545;AMYH02018926;BC001291;BC117142;BC117144;BE258596;BG491223;CB528496;CH471162;NM_001160354;NM_001160355;NM_017527;XM_005250989;XM_005250990 AAH01291;AAI17143;AAI17145;CAA04692;EAW82310;EAW82311;NP_001153826;NP_001153827;NP_059997;Q17RY6;XP_005251046;XP_005251047 Hs.69517;Hs.716823 1651123;2107299;5015961;5022322;5022576;5109281 D11S2560;D15S1477;D1S1361;D1S1425;LY6K__7345;RH65649 CT97;FLJ35226;HSJ001348;ly-6K OTTHUMP00000227296;OTTHUMP00000227334;cancer/testis antigen 97;lymphocyte antigen 6K protein-coding HGNC:24225 17457 615093 VALIDATED 1354154 LY6G6D lymphocyte antigen 6 complex, locus G6D LY6G6D belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Apr 2009] 6 6 6 p21.3 33281361 33283807 + 31683048 31685698 + 31715356 31717804 + 6480464 10384126;12079290;12477932;19423540;19807019;20406964;20438785 58530 F6XWZ1;O95868 ABBA01038084;AF129756;AJ012008;AJ315535;AJ315536;AJ315537;AL662899;AL670886;AL844216;AMYH02013453;BA000025;BC125138;BX248244;CH471081;CR354443;CR759787;CR936239;NM_021246 AAD18077;AAI25139;BAB63380;CAB46082;CAC85540;CAC85541;EAX03486;NP_067069;O95868 Hs.591792 1338813;7183493;7183494;7184010;7184081;7184139;7184140;7185886;7187268 D6S273 C6orf23;G6D;LY6-D;MEGT1;MGC150334;NG25 OTTHUMP00000070738;OTTHUMP00000070739;lymphocyte antigen 6 complex locus protein G6d;lymphocyte antigen-6 G6D;megakaryocyte-enhanced gene transcript 1 protein APPROVED protein-coding ENSG00000244355 HGNC:13935 16192 606038 VALIDATED 1349135 LY96 lymphocyte antigen 96 This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2010] 8 8 8 q21.11 70901437 70939164 + 74903564 74941314 + 73991329 74029079 + 1580863;5685019;6480464;6907045;7247704;8662876 21741580;22119168;23033384 10359581;10891475;11160242;11435474;11466383;11593030;11717200;11923281;11976338;12324469;12447442;12477932;12594207;12642668;12738639;12754215;12960171;14556004;14607928;14625308;15057266;15111623;15121639;15276183;15328161;15337750;15489334;15557191;15694388;15840729;16024789;16177092;16275943;16338228;16547263;16754682;16785528;16940155;17093906;17404865;17545685;17569869;17592304;17803912;17934216;17956942;17977838;18181766;18215718;18251133;18325643;18384879;18424732;18519568;18559343;18650420;18810425;18845299;18991397;19064998;19200604;19201903;19209789;19252480;19254290;19321453;19423540;19556306;19584052;19632992;19710105;19783674;19840833;20018893;20092898;20377740;20435923;20592019;20699280;20730709;20805788;20848773;21037101;21048031;21130168;21191086;21389010;21572044;21738462;21918188;21924775;21948372;21988832;22433852;22872782;23059983;23333304;23437263;23800176;24021278;24165011;24532584 23643 Q9Y6Y9 AB018549;AB446498;ABBA01041977;AC022868;AC087672;AF168121;AMYH02018231;BC020690;BG435728;CH471068;HI574322;NM_001195797;NM_015364 AAF89635;AAH20690;BAA78717;BAG55275;CBX47650;EAW87024;NP_001182726;NP_056179;Q9Y6Y9 Hs.726603 1336921;2118608;7186814 D8S417;D8S526 ESOP-1;MD-2;MD2;ly-96 OTTHUMP00000226858;OTTHUMP00000226888;myeloid differentiation protein-2 APPROVED protein-coding ENSG00000154589 HGNC:17156 05579 605243 REVIEWED 8662008 LYARP1 Ly1 antibody reactive pseudogene 1 2 2 2 82324277 82325219 - 82495862 82496804 - 82268738 82269680 - 100420968 ABBA01075690;AC105761;AMYH02004142;NG_023577 pseudo HGNC:50747 INFERRED 1343680 LY75 lymphocyte antigen 75 ENCODES a protein that exhibits carbohydrate binding (inferred); receptor activity (inferred); INVOLVED IN endocytosis (inferred); immune response (inferred); inflammatory response (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; cytarabine; doxorubicin 2 2 2 q24 154271706 154373097 - 160659866 160761267 - 159803355 159904756 - 6480464 10233701;10980384;11058570;11337467;12477932;12824192;16344560;17229838;17592270;18519810;19203752;19706888;20237496;21323541;21413003;21887537;22736794;22841832;22865700;22988114;8595155;8855966;9553150;9862343 4065 O60449;Q59H44 AA279177;AB208915;ABBA01004868;ABBA01004869;ABBA01004870;AC009961;AC093873;AF011333;AF064827;AK310678;AMYH02005078;AMYH02005079;AU099700;BC057232;DB135177;DB146492;DB150194;NM_002349 AAC17636;AAC62622;AAI72265;AAY14943;AAY24189;BAD92152;NP_002340;O60449 Hs.153563 1696904;1796262;5015861;5015961;5037552;7185938 D10S16;D15S1477;D8S2279;LY75_172;RH101918 CD205;CLEC13B;DEC-205;GP200-MR6;LY-75 C-type lectin domain family 13 member B;OTTHUMP00000162895;OTTHUMP00000220536;OTTHUMP00000220537 protein-coding ENSG00000054219;ENSG00000248672 HGNC:6729 05161 604524 VALIDATED 1602188 LYG1 lysozyme G-like 1 ENCODES a protein that exhibits lysozyme activity (inferred); INVOLVED IN cell wall macromolecule catabolic process (inferred); peptidoglycan catabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q11.2 94105373 94122311 - 99900701 99921205 - 99284238 99304742 - 6480464;8554872 11329013;12477932;12574869;12975309;15489334;21926972 129530 Q8N1E2 ABBA01073949;AC079447;AMYH02004399;AMYH02004400;AX068266;AX118949;AY358988;BC029126;BG194505;CH471127;NM_174898;XM_005263869;XM_005263870;XM_005263871 AAH29126;AAQ89347;AAX93256;ACE86656;ACE87338;ADZ15802;CAC27251;CAC38548;EAX01872;NP_777558;Q8N1E2;XP_005263926;XP_005263927;XP_005263928 Hs.164589 1680751 RH92412 SALW1939 OTTHUMP00000161219;OTTHUMP00000203483;lysozyme g-like protein 1 protein-coding ENSG00000144214 HGNC:27014 14043 VALIDATED 1343769 LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1 This gene represents a basic helix-loop-helix transcription factor. The encoded protein may play roles in blood vessel maturation and hematopoeisis. A translocation between this locus and the T cell receptor beta locus (GeneID 6957) on chromosome 7 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Sep 2010] 19 19 19 p13.2 13100251 13104085 - 13208002 13213974 - 13097188 13103160 - 1580863;6480464;7240710;8699517 10023675;12477932;15057824;15489334;16094422;16344560;1763056;18160048;19176012;19497860;19608273;19671288;20418284;20603019;2067848;20844761;2268576;23327922;23812588;2752424;7957052;8432525;8628307;8649774;9242638 4066 K7ER61;P12980 ABBA01029755;AC005546;AC007787;AI554151;AMYH02035567;BC002796;BI908195;CH471106;DB036722;JC009142;KF456509;M22637;M22638;NG_027756;NM_005583;XM_005259912;XM_006722752;XM_006722753;XM_006722754 AAA88084;AAA88085;AAA92488;AAC33149;AAH02796;CDL93505;EAW84344;NP_005574;P12980;XP_005259969;XP_006722815;XP_006722816;XP_006722817 Hs.46446;Hs.728534 bHLHa18 class A basic helix-loop-helix protein 18;lymphoblastic leukemia derived sequence 1;lymphoblastic leukemia-derived sequence 1;protein lyl-1 APPROVED protein-coding ENSG00000104903 HGNC:6734 01046 151440 REVIEWED 5131384 LY75-CD302 LY75-CD302 readthrough This locus represents naturally occurring read-through transcription between the neighboring lymphocyte antigen 75 (LY75) and CD302 molecule (CD302) genes. Alternative splicing results in multiple transcript variants encoding fusion products that share sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 2 2 q 160625139 160761267 - 159768628 159904756 - 6480464;8554872 12824192;20967262 100526664 O60449 ABBA01004868;ABBA01004869;ABBA01004870;AC009961;AC093873;AMYH02005077;AMYH02005078;AMYH02005079;AY184222;AY314006;NM_001198759;NM_001198760 AAN85434;AAP79899;AAY14943;AAY24189;NP_001185688;NP_001185689 Hs.153563 1649421;1858014;2119134;2125281;2170991;5037552 A007L02;D2S2971;D8S2279;RH25260;RH70502;SGC30020 DEC-205/DCL-1 fusion;LY75-CD302 fusion protein;OTTHUMP00000220536;OTTHUMP00000220537 APPROVED protein-coding ENSG00000248672 HGNC:38828 VALIDATED 1604346 LYAR Ly1 antibody reactive ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 4 4 4 p16.3 4167051 4189521 - 4269428 4291896 - 4267701 4290169 - 6480464 11076863;11230166;11256614;11790298;12429849;12477932;12777385;14702039;15489334;15489336;16083285;16169070;16381901;17353931;19710015;20972266;21044950;21139048;21145461;21182205;21386990;21903422;21907836;21988832;22952844;22990118;23383273;24250222;24457600;24495227;24816145;25027693;8491376 55646 D6RDJ1;Q9NX58 ABBA01008244;AC011744;AF229835;AI418609;AK000432;AK290750;AL136750;AMYH02008640;BC015796;BQ775341;CH471131;CR533548;KF457733;NM_001145725;NM_017816 AAF42870;AAH15796;BAA91162;BAF83439;CAB66684;CAG38579;CAL37754;CAL37964;EAW82437;EAW82438;EAW82439;NP_001139197;NP_060286;Q9NX58 Hs.425427 1650854;1655561;1770287;5022670 D4S1359;G34214;LYAR;SHGC-67674 FLJ20425;ZC2HC2 Ly1 antibody reactive homolog;OTTHUMP00000155128;ZLYAR;cell growth-regulating nucleolar protein APPROVED protein-coding ENSG00000145220 HGNC:26021 10064 VALIDATED 1603530 LYG2 lysozyme G-like 2 The protein encoded by this gene contains a SLT domain, a protein domain present in bacterial lytic transglycosylase (SLT) and in eukaryotic lysozymes (GEWL). SLT domain catalyzes the cleavage of the beta-1,4-glycosidic bond between N-acetylmuramic acid (MurNAc) and N-acetyglucosamine (GlcNAc). [provided by RefSeq, Jul 2008] 2 2 2 q11.2 94063301 94076202 - 99858709 99871570 - 99241680 99255107 - 6480464 12477932;12574869;15489334;15815621;21093056;21926972;8889548 254773 C9J4J0;C9JBA4;Q86SG7 ABBA01073949;ABBA01073950;AC079447;AF323919;AMYH02004398;AMYH02004399;AY026238;BC100882;BC100883;BC100884;BC100885;BQ184834;BQ187749;CH471127;NM_175735;XM_006712395 AAI00883;AAI00884;AAI00885;AAI00886;AAK16605;AAO32945;AAX93255;EAX01873;EAX01874;NP_783862;Q86SG7;XP_006712458 Hs.436468 LYGH;MGC119046;MGC119047;MGC119049 OTTHUMP00000161223;OTTHUMP00000203477;OTTHUMP00000203478;OTTHUMP00000203479;lysozyme g-like protein 2;lysozyme-like APPROVED protein-coding ENSG00000185674 HGNC:29615 14331 REVIEWED 2303895 LY86-AS1 LY86 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH silicon dioxide 6 6 6 p25.1 7576359 7852837 - 6346698 6623059 - 6346465 6622826 - 6480464;8554872 12477932;14702039;16344560;20038947 285780 Q8NBC3 ABBA01022019;ABBA01022020;AK091027;AL031123;AL133326;AL137181;AL162719;AL512305;AMYH02013047;AMYH02013048;AMYH02013049;BC031936;CH471087;DA148042;HG498952;HG498954;KF458087;KF459896;KF459901;KF459902;KF459903;KF459904;KF459905;KF459906;KF459909;NR_026970 BAC03570;EAW55187;EAW55188;EAW55189;EAW55190 Hs.655737 1339142;1644333;1663028;1678133;1682261;1688070;1755891;1785998;2119719;2120148;2130873;2131048;2146413;2146881;2168947 D6S1442;D6S1677;D6S2141;RH68066;RH76559;RH79038;RH93579;RH93816;SHGC-142730;SHGC-154802;SHGC-36971;SHGC-52702;SHGC-59926;SHGC-59953;STS-F10068 FLJ33708;LY86-AS;LY86AS;RP3-398D13.3 APPROVED ncrna ENSG00000216863 HGNC:26593 08165 VALIDATED 1318055 LY9 lymphocyte antigen 9 LY9 belongs to the SLAM family of immunomodulatory receptors (see SLAMF1; MIM 603492) and interacts with the adaptor molecule SAP (SH2D1A; MIM 300490) (Graham et al., 2006 [PubMed 16365421]).[supplied by OMIM, Mar 2008] 1 1 1 q23.3 133834603 133866716 + 160765864 160798045 + 160796074 160828255 + 1580863;6480464;8554872 10970093;11369645;11389028;11477068;11689425;12242590;12477932;12621057;15879090;15905546;16365421;16710414;17207965;18216865;20237496;21606160;22184727;22989874;23956418;24376606;7797269;8537117;8619474;9110174 4063 Q05CA2;Q0VAI0;Q5VYH8;Q5VYH9;Q5VYI1;Q9HBG7;R4GNG7;V9GY30 ABBA01016611;AF055708;AF055709;AF244129;AI378426;AK128573;AK292048;AK303403;AL121985;AL354714;AMYH02002027;AY007142;BC027920;BC042905;BC062589;BC064485;BC121049;BG546913;BX090162;CH471121;DC406206;L42621;NM_001033667;NM_001261456;NM_001261457;NM_002348;XM_005245164;XM_006711320;XM_006711321;XM_006711322;XM_006711323;XM_006711324;XM_006711325 AAA92623;AAF21753;AAF21754;AAG02002;AAG14995;AAH27920;AAH64485;AAI21050;ADQ32178;BAF84737;BAG64457;EAW52695;EAW52696;EAW52697;EAW52698;EAW52699;EAW52700;EAW52701;NP_001028839;NP_001248385;NP_001248386;NP_002339;Q9HBG7;XP_005245221;XP_006711383;XP_006711384;XP_006711385;XP_006711386;XP_006711387;XP_006711388 Hs.403857 1335027;1651689;2147005;2217574;5015861;5015961;5020740;7185938;7186362 D10S16;D15S1477;D1S484;L17809;LY9_2650;SHGC-64119;STS-L42621 CD229;SLAMF3;hly9;mLY9 OTTHUMP00000025671;OTTHUMP00000025672;OTTHUMP00000025673;OTTHUMP00000025675;SLAM family member 3;T-lymphocyte surface antigen Ly-9;cell surface molecule Ly-9;cell-surface molecule Ly-9;signaling lymphocytic activation molecule 3 APPROVED protein-coding ENSG00000122224 HGNC:6730 02817 600684 VALIDATED 1352251 LYPD2 LY6/PLAUR domain containing 2 FOUND IN extracellular vesicular exosome; INTERACTS WITH diazinon; benzo[a]pyrene (ortholog); C60 fullerene (ortholog) 8 8 8 q24.3 140142653 140144977 - 143831628 143833952 - 142750210 142752534 - 6480464 12477932;12975309;15489334;21697133 137797 F1T0L0;Q6UXB3 AB593150;ABBA01005288;AC083841;AK290331;AMYH02018926;AY358432;BC119019;BC119812;CH471162;NM_205545 AAI19020;AAI19813;AAQ88798;BAF83020;BAJ84084;EAW82307;NP_991108;Q6UXB3 Hs.441280 LYPDC2;MGC148106;UNQ430 OTTHUMP00000227217;RGTR430;ly6/PLAUR domain-containing protein 2 protein-coding ENSG00000197353 HGNC:25215 14334 PROVISIONAL 70834 LYPD3 LY6/PLAUR domain containing 3 ENCODES a protein that exhibits laminin binding (inferred); INVOLVED IN cell-matrix adhesion (inferred); cellular component movement (inferred); FOUND IN extracellular space; INTERACTS WITH afimoxifene; atrazine; bleomycin A5 19 19 19 q13.31 40765674 40770557 - 43964946 43969831 - 43460794 43465679 - 6480464 11179665;11245483;12477722;12477932;12592373;12975309;15012588;15057824;15342556;15489334;16303743;16344560;16502470;17207965;17706320;17849475;17912244;18979631;20360068;20825414;22404718;22431918;23708783 27076 B2RBR3;O95274 ABBA01040861;AC018758;AF082889;AJ223603;AK075464;AK290905;AK314773;AL832153;AMYH02036163;AY359006;BC039167;BC041061;BP367221;CH471126;DA837818;NM_014400 AAD13751;AAG09062;AAH39167;AAQ89365;ADQ31960;BAF83594;BAG37310;BAG52146;CAA11469;CAI46120;EAW57190;NP_055215;O95274 Hs.631594 2115065;2116382;2133310 STS-D29356;STS-T69460;STS-W72299 C4.4A;MIG-C4 2310061G07Rik;GPI-anchored metastasis-associated protein C4.4A homolog;GPI-anchored metastasis-associated protein homolog;ly6/PLAUR domain-containing protein 3;matrigel-induced gene C4 protein protein-coding ENSG00000124466 HGNC:24880 10783 609484 VALIDATED 1602183 LYPD4 LY6/PLAUR domain containing 4 ASSOCIATED WITH Melanoma (inferred); FOUND IN anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); furan (ortholog) 19 19 19 q13.2 39140840 39148195 - 42339356 42348774 - 41833686 41844766 - 6480464;8554872 12477932;12975309;15489334;16751776;18187620 147719 A8K8E0;Q6UWN0 ABBA01040814;AC010616;AC020956;AC243967;AK292305;AY358726;AY771680;BC034279;BC034629;CH471126;LK938006;NM_001291419;NM_173506;XM_005258543;XM_005278383;XM_005278385;XM_005278387;XM_005278388;XM_006723035 AAH34629;AAQ89088;AAX08121;BAF84994;EAW57066;EAW57067;NP_001278348;NP_775777;Q6UWN0;XP_005258600;XP_005278440;XP_005278442;XP_005278444;XP_005278445;XP_006723098 Hs.382361;Hs.98660 1338317;1759397;5016725 D19S423;RH98464;SHGC-151187 AC020956.3;MGC42718;SMR ly6/PLAUR domain-containing protein 4;sperm membrane receptor protein-coding ENSG00000273111 HGNC:28659 14626 VALIDATED 1349683 LYPD1 LY6/PLAUR domain containing 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 5-aza-2'-deoxycytidine 2 2 2 q21.2 127117594 127144318 - 133402337 133429070 - 132644764 132671497 - 737633;1580863;6480464;8554872 12477932 12975309;14702039;15489334;16303743;16344560;16368877;16413018;16712791;20379614 116372 F8WD77;Q8N2G4 ABBA01028212;ABBA01028213;AC010974;AC079773;AI150931;AK075487;AK094501;AK123029;AK130005;AK309668;AK309849;AMYH02004815;AY358628;BC011449;BC017318;BC040046;BE386060;BG057775;BY800190;CB110132;CH471058;CS051317;DA687169;DA776269;NM_001077427;NM_144586;XM_005263583;XM_005263584 AAH17318;AAH40046;AAQ88991;AAX93107;AAX93206;BAC04368;BAC11647;BAC85273;BAC85518;CAI72153;EAX11673;EAX11674;EAX11675;EAX11676;EAX11677;NP_001070895;NP_653187;Q8N2G4;XP_005263640;XP_005263641 Hs.432395 1671300;1690372;1727303;2107373 G63058;MGC29643__7700;RH44409;RH80444 FLJ41033;LYPDC1;MGC29643;PHTS OTTHUMP00000204190;OTTHUMP00000204191;ly6/PLAUR domain-containing protein 1;putative HeLa tumor suppressor protein-coding ENSG00000150551 HGNC:28431 14333 610450 VALIDATED 1604308 LYNX1 Ly6/neurotoxin 1 This gene encodes a member of the Ly-6/neurotoxin gene family, a group of lymphocyte antigens that attach to the cell surface by a glycosylphosphatidylinositol anchor and have a unique structure showing conserved 8-10 cysteine residues with a characteristic spacing pattern. Functional analysis indicates that this protein is not a ligand or neurotransmitter but has the capacity to enhance nicotinic acetylcholine receptor function in the presence of acetylcholine. This gene may also play a role in the pathogenesis of psoriasis vulgaris. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 140155485 140169371 - 143845756 143859640 - 142764338 142778224 - 6480464 10402197;11906696;12477932;12573258;12975309;16575903;17089039;17643396;18559515;19639180;20379614;21252236;23585571;24163370;8889548 66004 G3V0Z9;H0YB12;Q9BZG9 AB081838;ABBA01005288;AC083841;AF321824;AI494395;AK123335;AK126845;AL353948;AMYH02018927;AW449754;AY358417;AY587277;BC014560;BC047923;BI603715;BM172253;BQ685632;BU683767;CH471162;DB501423;KF459649;NM_023946;NM_177457;NM_177458;NM_177476;NM_177477 AAK01642;AAQ88783;AAT00512;BAC56859;EAW82299;EAW82301;EAW82302;EAW82303;EAW82304;EAW82306;NP_076435;NP_803252;NP_803253;NP_803429;NP_803430;Q9BZG9 Hs.158665;Hs.604828 1683501;1761597;2161414;2163307;2217576;5113789 LYNX1_2866;RH16413;RH79201;RH80085;SHGC-145591;WI-19719 MGC40364;SLURP2 Ly-6 neurotoxin-like protein 1;OTTHUMP00000227233;OTTHUMP00000227234;OTTHUMP00000227235;OTTHUMP00000227292;OTTHUMP00000227293;OTTHUMP00000227295;SLURP-2;ly-6/neurotoxin-like protein 1;secreted Ly-6/uPAR domain-containing protein 2;secreted Ly-6/uPAR-related protein 2;secreted Ly6/uPAR related protein 2 APPROVED protein-coding ENSG00000180155 HGNC:29604 16201 606110 REVIEWED 1604488 LYPD5 LY6/PLAUR domain containing 5 FOUND IN anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH calcitriol; 3,4-methylenedioxymethamphetamine (ortholog); phenobarbital (ortholog) 19 19 19 q13.31 41103571 41128348 - 44300079 44324808 - 43784310 43820656 - 6480464 12477932;12975309;14702039;15340161;15489334;16344560;19913121;20628086;23535729;23896969 284348 M0QYY3;M0R1J4;Q6UWN5 ABBA01040869;ABBA01040870;AC011508;AC115522;AK055031;AK301693;AMYH02036174;AY358719;BC044237;BC057816;CF529795;CH471126;CK823626;DA093306;DA286806;DC364960;NM_001031749;NM_001288763;NM_182573;XM_006723156;XM_006723157 AAH57816;AAQ89081;BAB70840;BAG63165;EAW57232;NP_001026919;NP_001275692;NP_872379;Q6UWN5;XP_006723219;XP_006723220 Hs.44289 2147919;5106786 D19S712;STS-W81532 FLJ30469;PRO4356 ly6/PLAUR domain-containing protein 5;metastasis-associated protein protein-coding ENSG00000159871 HGNC:26397 08084 VALIDATED 1605579 LYPD6 LY6/PLAUR domain containing 6 Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).[supplied by OMIM, Apr 2010] 2 2 2 q23.2 143801045 143944084 + 150186499 150330662 + 149329985 149474148 + 6480464;8554872 12477932;12975309;14702039;15340161;15489334;16344560;19653121;20379614;23987510 130574 C9IYE7;Q86Y78 ABBA01004742;AC007394;AK055699;AK124733;AK309248;AL831852;AMYH02004961;AMYH02004962;AY358623;BC032836;BC047013;BX105614;CH471058;DA246384;NM_001195685;NM_194317;R45082 AAH32836;AAH47013;AAQ88986;AAY14698;BAG54082;CAH56278;EAX11538;EAX11539;EAX11540;NP_001182614;NP_919298;Q86Y78 Hs.21929 1674968;1722457;1854095;2116575;2121034;2122396 A006O33;Cda0td05;D2S1995;G60156;RH12313;SHGC-16727 MGC52057 OTTHUMP00000162676;OTTHUMP00000204367;ly6/PLAUR domain-containing protein 6 APPROVED protein-coding ENSG00000187123 HGNC:28751 14676 613359 VALIDATED 6771298 LYPD8 LY6/PLAUR domain containing 8 FOUND IN anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH silicon dioxide 1 1 1 q44 222199317 222211071 - 248902716 248903171 - 248739415 248755787 - 6480464 12975309;16344560 646627 K7ELG6;Q6UX82 ABBA01023059;ABBA01023060;AEKP01210869;AMYH02003154;AY358469;BC033943;BQ027877;CA433021;CH471257;CR589904;DA425843;DA922659;FP476111;FP885904;NM_001085474;NM_001291283;XM_006711811 AAQ88833;EAW57531;NP_001078943;NP_001278212;Q6UX82;XP_006711874 Hs.146268;Hs.632511 ly6/PLAUR domain-containing protein 8;phospholipase inhibitor;uncharacterized protein UNQ511/PRO1026 protein-coding ENSG00000259823 HGNC:44208 VALIDATED 1320546 LY86 lymphocyte antigen 86 INVOLVED IN positive regulation of lipopolysaccharide-mediated signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); plasma membrane (inferred); INTERACTS WITH disodium selenite; ethyl methanesulfonate; fonofos 6 6 6 p25.1 7818693 7884995 + 6588934 6655216 + 6588656 6654983 + 1580863;6480464;8554872 10079183;10880523;12477932;14574404;15340161;15489334;16907704;17207965;18001295;19255686;20038947;20237496;20935629;21130168;21426727;21832049;21959264;23563607;23966867;24735745;9686597;9763566 9450 O95711 AB020499;ABBA01022020;ABBA01022021;AF057178;AL031123;AMYH02013049;AY931019;BC038846;CD695164;CH471087;NM_004271;XM_006715273 AAC98152;AAH38846;AAY17402;ADQ32509;BAA76410;EAW55191;EAW55192;NP_004262;O95711;XP_006715336 Hs.653138 1336771;1678133;1694214;1774988;2107301;2119719;2131048;2146413;2146881 AL035199;D6S1442;D6S1668;LY86__7346;RH68066;RH93579;SHGC-33709;SHGC-59926;SHGC-59953 MD-1;MMD-1;RP1-80N2.1;dJ80N2.1;ly-86 MD-1, RP105-associated;OTTHUMP00000015993 protein-coding HGNC:16837 05578 605241 VALIDATED 6484055 LYPLA1P2 lysophospholipase I pseudogene 2 4 4 4 q25 109159657 109160374 - 111866268 111866985 - 110945112 110945829 - 391686 ABBA01063800;AC004062;AMYH02009916;NG_022025 pseudo HGNC:44006 INFERRED 6484050 LYPLA1P3 lysophospholipase I pseudogene 3 6 6 6 q13 72263329 72265810 + 71874683 71877159 + 71164980 71167456 + 157713 ABBA01040278;AL365267;AMYH02013880;NG_001063 1680954 RH80504 pseudo HGNC:44007 INFERRED 6484020 LYPLA1P1 lysophospholipase I pseudogene 1 7 7 7 q31.32 117673855 117674545 - 122870118 122870808 - 123230064 123230754 - 100129401 ABBA01057737;AC073054;AMYH02016679;CH236947;NG_022546 pseudo HGNC:44005 INFERRED 1602653 LYPD6B LY6/PLAUR domain containing 6B ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; trichostatin A 2 2 2 q23.2 143508885 143685705 + 149894981 150071776 + 149038467 149215262 + 6480464;8554872 12477932;18360792;20164180;20379614;23453885 130576 F8WB42;F8WCH4;F8WEI1;H7BXI7;Q8NI32 ABBA01004741;ABBA01004742;AC009230;AC073271;AF435957;AMYH02004959;BC018203;BC040176;CH471058;NM_177964;XM_005246304;XM_005246305;XM_005246306;XM_005246308;XM_005246309;XM_005246310;XM_006712277;XM_006712278;XM_006712279;XM_006712280;XM_006712281;XM_006712282;XM_006712283 AAH18203;AAH40176;AAM20908;AAY14974;AAY24304;EAX11541;EAX11542;EAX11543;NP_808879;Q8NI32;XP_005246361;XP_005246362;XP_005246363;XP_005246365;XP_005246366;XP_005246367;XP_006712340;XP_006712341;XP_006712342;XP_006712343;XP_006712344;XP_006712345;XP_006712346 Hs.357567 1688048;1690700;1723731;1757453;2176491 D2S1812;RH118755;RH70008;RH94091;SHGC-144830 CT116;LYPD7 OTTHUMP00000204361;OTTHUMP00000204362;OTTHUMP00000204363;cancer/testis antigen 116;ly6/PLAUR domain-containing protein 6B protein-coding ENSG00000150556 HGNC:27018 14045 PROVISIONAL 1601894 LYPLA2P1 lysophospholipase II pseudogene 1 INTERACTS WITH cyclosporin A 6 6 6 p21.32 34886867 34888505 - 33332501 33334139 - 33364724 33366362 - 6480464 19851445 653639 ABBA01038144;AL050332;AL662799;AL662827;AMYH02013485;BX248088;CR759793;CT009514;NG_027926 2184254 G23097 APT;LYPLA2L;dJ570F3.6 pseudo HGNC:21069 VALIDATED 8656213 LYPLAL1-AS1 LYPLAL1 antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 1 1 1 q41 192541023 192564843 - 219254315 219347130 - 219080973 219173788 - 8554872 12477932;16344560 643723 ABBA01048098;ABBA01048099;AC092808;AL360093;AMYH02002723;BC086863;DA132981;HG493219;NR_038845 Hs.519774 ncrna HGNC:50560 VALIDATED 8553072 LYPLA2P3 lysophospholipase II pseudogene 3 9 9 9 q21.2 50159867 50160610 + 79585198 79585941 + 76970282 76971025 + 100128790 ABBA01033916;AL353637;AMYH02021029;NG_021664 pseudo HGNC:50446 INFERRED 8553145 LYPLA2P2 lysophospholipase II pseudogene 2 19 19 19 p13.2 7814709 7816321 - 7943504 7945117 - 7878619 7880232 - 11181995;15146197;21906983 388499 ABBA01010880;AC010336;AMYH02035410;CH471139;CN341866;NR_033250 EAW68970 Hs.730360 pseudo HGNC:50445 VALIDATED 735384 LYPLA1 lysophospholipase I This gene encodes a member of the alpha/beta hydrolase superfamily. The encoded protein functions as a homodimer, exhibiting both depalmitoylating as well as lysophospholipase activity, and may be involved in Ras localization and signaling. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 4, 6, and 7. [provided by RefSeq, Jul 2013] 8 8 8 q11.23 50949236 51005140 - 54958927 55014577 - 54046367 54102017 - 1580863;6480464;6907045 10064899;10395961;10760470;11042152;11080636;12477932;1531641;15489334;16344560;18976975;19322201;19439193;19465924;19738201;20418879;20685872;21139048;21890473;21906983;22623428;23000965;23396970;24250222;25015289;7566098;8619474;9110174 10434 B4DP64;E5RFT6;E5RGR0;E5RI35;E5RJ48;O75608;Q6IAQ1 AA307642;AA827237;ABBA01041735;ABBA01041736;AC100821;AF035293;AF052112;AF077198;AF077199;AF081281;AF291053;AK289400;AK298206;AK307277;AK313739;AMYH02017999;BC008652;BC010397;CH471068;CR457103;DA817192;DA881616;DA883059;NM_001279356;NM_001279357;NM_001279358;NM_001279359;NM_001279360;NM_006330;XM_005251127;XM_006716417;XR_428339 AAB88180;AAC31610;AAD26993;AAD26994;AAG10063;AAH08652;AAH10397;ABM82453;ABM85643;BAF82089;BAG36480;BAG60476;CAG33384;EAW86742;EAW86743;EAW86744;EAW86745;EAW86746;NP_001266285;NP_001266286;NP_001266287;NP_001266288;NP_001266289;NP_006321;O75608;XP_005251184;XP_006716480 Hs.744046 1680954;2107303 LYPLA1__7347;RH80504 APT-1;APT1;LPL-I;LPL1;hAPT1 LYSOPLA;OTTHUMP00000226435;OTTHUMP00000226436;OTTHUMP00000226437;OTTHUMP00000226439;OTTHUMP00000226442;acyl-protein thioesterase 1;acyl-protein thioesterase-1;lysoPLA I;lysophospholipase 1;lysophospholipid-specific lysophospholipase APPROVED protein-coding ENSG00000120992 HGNC:6737 07063 605599 REVIEWED 732668 LYN LYN proto-oncogene, Src family tyrosine kinase This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 8 8 8 q13 52784229 52915775 + 56792386 56925006 + 55879827 56012447 + 1580863;2303708;1581410;2303711;6480464;6484113;6907045;8554872 16529858;17039281;17845203 10026222;10066823;10206997;10228003;10318860;10327049;10339479;10362357;10403844;10415030;10428862;10432313;10469124;10488096;10544125;10564259;10571082;10574931;10586033;10633085;10642173;10733577;10748054;10748115;10749872;10790433;10858437;10872802;10891478;10933394;10942405;10945993;10945997;10981967;11042209;11046148;11071635;11104670;11131153;11157475;11162638;11226282;11301322;11306681;11311138;11313396;11358993;11388899;11389892;11435302;11443118;11514608;11517336;11524430;11526478;11536198;11594778;11598012;11602604;11739737;11744621;11782428;11823534;11825908;11826756;11877294;11943772;11971018;12095152;12096713;12138090;12149655;12181444;12202484;12244095;12244174;12393728;12456510;12468540;12477932;12495897;12496276;12509383;12538589;12586738;12588871;12594225;12642697;12734410;12750561;12810716;12846735;12882960;14662334;14667819;14726379;14969582;14993658;15078178;1508184;1510669;15144186;15166241;15173188;15190072;15262430;1544885;15489334;15489917;15501776;15546919;1557373;15592455;15638726;15665117;15707590;15744341;15784897;15795233;1602151;16118313;16249387;16316995;16320343;16344560;16374509;16454711;16467205;16568084;16597828;16621960;16640565;16687414;16791881;16799092;16849330;1689310;17081983;1715582;17164290;17192257;1720539;1722201;17230226;17233630;17254966;17353931;17692281;17701175;17910947;18029348;18070987;18086677;18174230;18235045;18272395;18363812;18391951;18453587;18457834;18577747;18579528;18768392;18802065;18817770;19086053;19234487;19258394;19290526;19322201;19340007;19356729;19369946;19492092;19590497;19619611;19641380;19710703;19807924;19893451;19930468;19965664;1998697;20056178;20079716;20189992;20215510;20379614;20534535;20546612;20561033;20605918;2065070;20679348;20693279;20946164;20962850;21106848;21139048;21309750;21345943;21513978;21628423;21730355;21749309;21822214;21890473;21906983;21918188;21951684;21952639;21963094;21978158;22246800;22261722;22364282;22393415;22430206;2247464;22490227;22731636;22745667;22845063;22895079;22939624;23039362;23131831;23223229;23378338;23396948;23398456;23450709;23503679;23583449;23645696;23696637;23866081;23896410;23918783;23949219;23975833;24091144;24108461;24407241;25015289;2505253;3561390;7515933;7516335;7516469;7528770;7545683;7568175;7575560;7589101;7612892;7636265;7650013;7682059;7682714;7721825;7782294;7831290;7859737;7895172;8051175;8058772;8084605;8114715;8125304;8197119;8395016;8612628;8621063;8621719;8629002;8630736;8647200;8657103;8692915;8705993;8753773;8756631;8806683;8885868;8910336;8943427;8943850;9020138;9028946;9045636;9104825;9160881;9169421;9169439;9171348;9195899;9202419;9230816;9268059;9295288;9341198;9427690;9446655;9531288;9573010;9581808;9590210;9633884;9687533;9712716;9748231;9819391;9820500;9837776;9892356;9892651;9973406 4067 A8K379;E5RJ37;P07948;Q6NUK7 ABBA01041754;ABBA01041755;AC018607;AC046176;AK130135;AK290494;AK298677;AMYH02018015;AMYH02018016;AMYH02018017;BC059394;BC068551;BC075001;BC075002;BC126456;BC126458;BG059526;BU954348;CB990993;CH471068;CN480554;DA948647;M16038;M79321;NG_029593;NM_001111097;NM_002350;XM_005251233 AAA59540;AAB50019;AAH59394;AAH68551;AAH75001;AAH75002;AAI26457;AAI26459;BAF83183;BAG60841;EAW86764;EAW86765;EAW86766;EAW86767;EAW86768;NP_001104567;NP_002341;P07948;XP_005251290 Hs.491767;Hs.545418 1341917;1744091;1769518;1775209;1796264;2139260;2163035;2164746;2165732 D8S1516;D8S1828;D8S1930;GDB:386774;LYN_1415;RH18289;RH48206;RH69081;SHGC-58186 FLJ26625;JTK8;p53Lyn;p56Lyn OTTHUMP00000226393;OTTHUMP00000226394;Yamaguchi sarcoma viral (v-yes-1) related oncogene homolog;lck/Yes-related novel protein tyrosine kinase;lyn protein non-receptor kinase;tyrosine-protein kinase Lyn;v-yes-1 Yamaguchi sarcoma viral related oncogene homolog APPROVED protein-coding ENSG00000254087 HGNC:6735 01301 165120 REVIEWED 733893 LYPLA2 lysophospholipase II Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. There are alternatively spliced transcript variants described for this gene but the full length nature is not known yet. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 22447208 22451593 + 24117275 24122029 + 23791123 23795539 + 1580863;6480464;6907045;8554872 10395961;12477932;15489334;16169070;16710414;16806233;19056867;19738201;21152083;21832049;21890473;21906983;22623428;23396970;24816145 11313 O95372;Q5QPN5;Q5QPN9;Q5QPQ0;Q5QPQ1;Q5QPQ2;Q5QPQ3 ABBA01059886;AF090423;AF098668;AK024724;AL031295;AMYH02000509;BC017034;BC017193;CH471134;NM_007260;XM_005245728 AAC72844;AAH17034;AAH17193;AAP97210;ABM87823;ABW03732;EAW95077;EAW95078;EAW95079;EAW95080;EAW95081;EAW95082;NP_009191;O95372;XP_005245785 Hs.533479 1666456;2184254;5124771 G23097;RH8138;SHGC-74383 APT-2;DJ886K2.4;LPL-II OTTHUMP00000002999;OTTHUMP00000003001;OTTHUMP00000003002;OTTHUMP00000037932;OTTHUMP00000037933;OTTHUMP00000037934;acyl-protein thioesterase 2;lysoPLA II APPROVED protein-coding ENSG00000011009 HGNC:6738 07127 REVIEWED 1345825 LYRM4 LYR motif containing 4 INVOLVED IN small molecule metabolic process (inferred); ASSOCIATED WITH Autosomal recessive inheritance (inferred); COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (inferred); Failure to thrive (inferred); FOUND IN nucleus; INTERACTS WITH all-trans-retinoic acid; cyclosporin A; formaldehyde 6 6 6 p25.1 6335563 6487960 - 5047395 5261172 - 5031753 5260950 - 6480464;8699517;7240710;8554872 11342225;12477932;14574404;14702039;15489334;16341090;17331979;18029348;19068216;19174780;19422935;19454487;19760754;19913121;20628086;20877624;20886065;20972266;21072187;21890473;21968932;21988832;21998595;22277967;23509962;23814038;8889548 57128 C9J799;C9JRX8;C9JY28;F5H189;H7C4Q5;Q9HD34 AA764791;ABBA01022005;ABBA01022006;ABBA01022007;ABBA01022008;AF088060;AF170070;AF258559;AF285118;AK126470;AK291158;AK309458;AK309661;AL035653;AL121978;AL139094;AL162381;AL359643;AMYH02013028;AMYH02013029;AMYH02013030;AMYH02013031;BC009552;BC067762;BC105601;BI226933;BI753819;BI758258;BM984752;BX353584;BX446965;CA310019;CH471087;CK819966;HG498947;HY168919;KF458078;KF458082;KF458083;KF510955;NM_001164840;NM_001164841;NM_020408;NR_104417;NR_104418;XM_005249237;XM_005249239;XM_006715151 AAF25797;AAG01155;AAG23762;AAH09552;ACE86635;ACE87317;BAF83847;EAW55176;EAW55177;EAW55178;NP_001158312;NP_001158313;NP_065141;Q9HD34;XP_005249294;XP_005249296;XP_006715214 Hs.387755;Hs.650699 1644709;1694974;1753939;1775909;2138264;2138266;2173067;5014023;5118506 A005W03;AL035373;D11S3374;D13S1553;D6S1789;G20545;RH12460;SHGC-108146;SHGC-57597 C6orf149;CGI-203;COXPD19;ISD11;RP11-428J1.4 LYR motif-containing protein 4;OTTHUMP00000214151;OTTHUMP00000214159;homolog of yeast Isd11;mitochondrial matrix Nfs1 interacting protein protein-coding ENSG00000214113 HGNC:21365 12855 613311;615595 VALIDATED 1602082 LYRM7 LYR motif containing 7 Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] 5 5 5 q23.3 126637021 126671498 + 130506641 130541119 + 131170948 131205426 + 6480464;8699517;7240710;8554872 12477932;14702039;15489334;19240061;20877624;21832049;21890473;23168492;24014394;24606901;24816145 90624 D6R994;D6RBV5;Q5U5X0 ABBA01068832;AC004650;AC005179;AK000803;AK056991;AMYH02012196;AMYH02012197;AMYH02012198;BC022429;BC037930;BC047079;BG714193;BI601105;BI667583;CH471062;DA996312;NG_034163;NM_001293735;NM_181705;NR_121658 AAH37930;AAH47079;EAW62375;NP_001280664;NP_859056;Q5U5X0 Hs.115467 1331601;1772679;1850447;2142288;2182572;5015619;5015961;5016478;5016596;5020740;5020988;5022322;5022578;5022651;5109281 A008S03;D11S2560;D11S2921;D11S3114;D15S1477;D1S1423;D1S1425;D22S958;D5S666;GDB:1318710;GDB:434012;GDB:631802;L17809;RH78570;STS-N53458 C5orf31;FLJ20796;MC3DN8;MGC24679;MZM1L LYR motif-containing protein 7;Lyrm7 homolog;OTTHUMP00000159243;OTTHUMP00000223170;complex III assembly factor LYRM7 APPROVED protein-coding ENSG00000186687 HGNC:28072 14276 615831;615838 REVIEWED 1606960 LYRM5 LYR motif containing 5 FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 12 12 12 p12.1 30495105 30504913 + 25348150 25357949 + 25195216 25205015 + 6480464 12477932;14702039;15489334;17207965;20877624 144363 G3V332;G3V427;G3V4R2;G3V521;Q6IPR1 ABBA01068017;AC092794;AK057730;AK095164;AMYH02026219;AMYH02026220;BC071769;BC100276;BG771497;CH471094;NM_001001660;XM_005253319;XM_005253320 AAH71769;AAI00277;ADQ32000;EAW96510;NP_001001660;Q6IPR1;XP_005253376;XP_005253377 Hs.209151 1679820;1796236;2099610;2128020 Bda12d09;KRAS2_909;SHGC-33831;stSG603220 LYR motif-containing protein 5;OTTHUMP00000245378;OTTHUMP00000245379;OTTHUMP00000245380;OTTHUMP00000245384;OTTHUMP00000245385 protein-coding ENSG00000205707 HGNC:27052 14067 VALIDATED 1603386 LYRM2 LYR motif containing 2 FOUND IN mitochondrion (inferred); INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; phenobarbital 6 6 6 q15 90760915 90767451 - 90341943 90348474 - 89632224 89638755 - 6480464 12477932;14702039;15342556;15489334;16344560;17207965;21890473;24250222;7829101 57226 E5RG38;E5RJK7;G3V136;Q9NU23 ABBA01040533;AK024783;AK094994;AK311151;AK311180;AK311275;AK311948;AL096678;AL122090;AMYH02014086;AV710669;BC009782;BC104668;BI492982;BP280644;CH471051;DA160441;NM_020466;NR_028493;NR_028494;NR_028495 AAH09782;AAI04669;ACE86424;ACE87099;ADQ33179;BAG34889;EAW48547;EAW48548;EAW48549;NP_065199;Q9NU23 Hs.177275 1650910;1660803;1673271;1682395;1685934;1694544;1772284;5022651;5037552;5123909 D11S2921;D6S1132E;D8S2279;G31052;G43165;RH46755;RH67824;SGC30401;SHGC-36707;STS-AA025624 DJ122O8.2;FLJ18193;FLJ18317;FLJ21130;MGC104253 LYR motif-containing protein 2;OTTHUMP00000224998;OTTHUMP00000224999 protein-coding ENSG00000083099 HGNC:25229 13146 VALIDATED 1603473 LYSMD1 LysM, putative peptidoglycan-binding, domain containing 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 1 1 1 q21.3 124247515 124253715 - 151132224 151138424 - 151159748 151165948 - 6480464;8554872 12477932;15489334;16344560;16710414;17207965 388695 Q96S90 ABBA01049379;AK298706;AK298814;AL122088;AL592424;AMYH02001873;AY037156;BC031649;BX647911;CH471121;DA176882;NM_001136543;NM_212551 AAH31649;AAK67635;ADQ31937;BAG60863;BAG60947;CAH10574;CAH10716;EAW53467;NP_001130015;NP_997716;Q96S90 Hs.591482 1687083;2106589;2113678 AB062973;RH79577;SB145__5549 MGC35223;RP11-68I18.5;SB145 OTTHUMP00000014153;OTTHUMP00000235064;lysM and putative peptidoglycan-binding domain-containing protein 1 protein-coding ENSG00000163155 HGNC:32070 18017 VALIDATED 1601746 LYRM1 LYR motif containing 1 FOUND IN mitochondrion (inferred); nucleus (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; ethyl methanesulfonate 16 16 16 p11.2 20221438 20246212 + 20911204 20936328 + 20900235 20925006 + 6480464 10493829;12477932;15489334;16344560;19022914;19284880;20826099;20877624;20938407;21988832;22820890 57149 H3BNA8;H3BNK2;O43325 ABBA01028288;AC002394;AK308690;AK310055;AK311415;AK311881;AL359616;AMYH02031667;BC017039;BI547471;CD237780;CH471228;CX163936;DB054440;NM_001128301;NM_001128302;NM_020424;XM_005255444;XM_005255445;XM_006721070 AAC05810;AAH17039;ADZ15700;BAG34822;EAW66843;EAW66844;EAW66845;EAW66846;EAW66847;EAW66848;EAW66849;NP_001121773;NP_001121774;NP_065157;O43325;XP_005255501;XP_005255502;XP_006721133 Hs.745012 2154143;2154536;2164138 1042;HUMHM02C01;RH66147 A211C6.1 LYR motif-containing protein 1;OTTHUMP00000162292 protein-coding ENSG00000102897 HGNC:25074 14254 614709 VALIDATED 1606711 LYSMD4 LysM, putative peptidoglycan-binding, domain containing 4 FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; raloxifene 15 15 15 q26.3 76686562 76692579 - 100267610 100273766 - 99720842 99733444 - 6480464 12477932;14702039;15489334;16344560;20379614;23377640;23870195 145748 B3KWE4;C9J1B9;Q5XG99 ABBA01020551;AC022692;AK056718;AK057570;AK124852;AK290296;AMYH02031154;BC041097;BC084545;BG420645;BX640928;CB989579;CH471101;DA405564;DA594971;DB044672;HY131530;KF459559;NM_001284417;NM_001284418;NM_001284419;NM_001284420;NM_001284421;NM_001284422;NM_152449;XM_005254867;XM_006720394;XM_006720395;XM_006720396;XM_006720397 AAH41097;AAH84545;BAB71528;BAF82985;BAG54106;CAE45966;EAX02253;EAX02254;EAX02255;EAX02256;NP_001271346;NP_001271347;NP_001271348;NP_001271349;NP_001271350;NP_001271351;NP_689662;Q5XG99;XP_005254924;XP_006720457;XP_006720458;XP_006720459;XP_006720460 Hs.562568 1727385;1775419 D15S901;G63100 FLJ33008;MGC99501 OTTHUMP00000194788;OTTHUMP00000194789;lysM and putative peptidoglycan-binding domain-containing protein 4 protein-coding ENSG00000183060 HGNC:26571 08153 VALIDATED 1605838 LYSMD2 LysM, putative peptidoglycan-binding, domain containing 2 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 15 15 15 q21.2 28908680 28937069 - 52015261 52043650 - 51723064 51751453 - 6480464 12477932;15489334;15592455 256586 H0YK98;Q8IV50 ABBA01039080;AC026770;AK129759;AMYH02030437;AY125955;BC022075;BC033515;BI822634;BQ446302;CH471082;CR936638;NM_001143917;NM_153374 AAH22075;AAH33515;AAM94507;ABM83350;ABM86564;CAI56778;EAW77427;NP_001137389;NP_699205;Q8IV50 Hs.603629 DKFZp686I2243;MGC35274 OTTHUMP00000162616;lysM and putative peptidoglycan-binding domain-containing protein 2 protein-coding ENSG00000140280 HGNC:28571 17531 VALIDATED 6481097 LYST-AS1 LYST antisense RNA 1 q42.3 100874266 AL133286;AW118885 LYST-IT2 APPROVED ncrna HGNC:41320 6481096 LYST-IT1 LYST intronic transcript 1 (non-protein coding) 100874265 AL121997 miscrna HGNC:41319 1322525 LYPLAL1 lysophospholipase-like 1 INVOLVED IN negative regulation of Golgi to plasma membrane protein transport (inferred); protein depalmitoylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; bisphenol A 1 1 1 q41 192564906 192603940 + 219347192 219386207 + 219173850 219212865 + 6480464;8554872 12477932;12706107;15489334;16344560;16710414;19557161;20703240;20724581;20881960;20935629;21139048;21674055;21890473;21906983;21953277;22052940;22179955;22479202;22581228;22589738;22797925;23221025;23563607;23754948;24250222 127018 Q5VWZ2 AA417842;AA424278;ABBA01048098;AK123628;AK129913;AK291542;AK309689;AL360093;AMYH02002723;AW967835;AY341430;BC016711;BF115063;BX282451;CB851909;CH471100;CS185550;DA822882;HY106571;NM_001300769;NM_001300770;NM_001300771;NM_001300772;NM_138794;XM_005273046;XM_005273047;XM_005273048;XM_005273049;XM_006711162 AAH16711;AAQ17077;BAF84231;BAG53925;CAJ42731;EAW93319;EAW93320;EAW93321;EAW93322;EAW93323;NP_001287698;NP_001287699;NP_001287700;NP_001287701;NP_620149;Q5VWZ2;XP_005273103;XP_005273104;XP_005273105;XP_005273106;XP_006711225 Hs.657617 1644186;1698292;1781488;2123955 RH102683;SHGC-132850;SHGC-53443;SHGC-76379 FLJ99730;KIAA1238;Q96AV0 OTTHUMP00000035229;OTTHUMP00000035230;lysophospholipase-like protein 1 protein-coding ENSG00000143353 HGNC:20440 14335 VALIDATED 1606178 LYSMD3 LysM, putative peptidoglycan-binding, domain containing 3 FOUND IN integral component of membrane (inferred); INTERACTS WITH (S)-nicotine; copper atom; copper(0) 5 5 5 q14.3 85713583 85727549 - 89811443 89825401 - 90515626 90529584 - 6480464 11076863;11230166;12477932;14702039;15489334;15489336;16381901;17567985;24250222;24816145 116068 A8K613;G5E9N8;Q7Z3D4 ABBA01062155;AC027323;AK023604;AK291478;AL137315;AL832721;AMYH02011774;BC058027;BC136740;BC136741;BP873090;BX500166;BX537972;CH471084;CR933624;CS300697;DN994993;NM_001286812;NM_198273;XM_005248421 AAH58027;AAI36741;AAI36742;AAI46688;BAF84167;CAB70692;CAD97936;CAI45934;CAK32361;CAL38090;CAL38656;EAW95983;EAW95984;NP_001273741;NP_938014;Q7Z3D4;XP_005248478 Hs.136235 DKFZp686F0735;FLJ13542 OTTHUMP00000222487;OTTHUMP00000222488;OTTHUMP00000222490;OTTHUMP00000222491;lysM and putative peptidoglycan-binding domain-containing protein 3 protein-coding ENSG00000176018 HGNC:26969 VALIDATED 1604070 LYST lysosomal trafficking regulator This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013] 1 1 1 q42.1-q42.2 209067680 209273532 - 235824331 236047008 - 235661031 235883708 - 6480464;7240710;8554872;8699517 10482950;10648412;10737800;11102458;11857544;11984006;12125812;12446740;12477932;12753649;14759258;15896657;16344560;16710414;1672300;18043242;19620308;20301751;20463881;21139048;21488161;21890473;24072239;24112114;24521565;3013924;3322007;6154765;6445041;8717042;8751863;8751864;8896560;9145619;9215679;9215680;9606205 1130 H7C4F5;Q99698 AA486745;ABBA01033142;ABBA01033143;ABBA01033144;ABBA01033145;ABBA01033146;AK307457;AK310790;AK311664;AL121997;AL133286;AL390765;AMYH02002950;AMYH02002951;AMYH02002952;BC033098;BC144702;BF692337;BI031463;BX649113;CD702969;CH471098;DB265889;KF455167;L77889;NG_007397;NM_000081;NM_001301365;NR_102436;U67615;U70064;U72192;U84744;XM_005273027;XM_005273028;XM_005273029;XM_005273030;XM_006711731 AAB39697;AAB41309;AAB41533;AAB51608;AAB87737;AAI44703;EAW70034;EAW70035;EAW70036;EAW70037;EAW70038;NP_000072;NP_001288294;Q99698;XP_005273084;XP_005273085;XP_005273086;XP_005273087;XP_006711794 Hs.532411 1298318;1654713;1656477;1680290;1692494;1692616;1706244;1730377;1850569;1857135;2107933;2159196;2179410;5017448;5094841;7183716;7184698 AAT243;AL009516;AL033898;AL034066;CHS1_8257;D1S235;D1S2483;D1S300E;LYST;RH11279;RH68211;SGC35175;SHGC-32758;SHGC-76548;SHGC-80663 CHS;CHS1 Chediak-Higashi syndrome 1;OTTHUMP00000038327;beige homolog;beige protein;lysosomal-trafficking regulator APPROVED protein-coding ENSG00000143669 HGNC:1968 06060 214500;606897 REVIEWED 1343889 LYZL2 lysozyme-like 2 Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL2 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009] 10 10 10 p11.23 30666222 30684162 - 30900708 30918647 - 30611779 30629718 - 1580863;6480464 12477932;15164054;15489334;16014814;17207965;18984674;23064961 119180 Q7Z4W2 ABBA01034339;ABBA01034340;ABBA01034341;ABBA01034342;AF139543;AI637906;AL451107;AMYH02022561;AMYH02022562;BC066294;CH471072;NM_183058 AAH66294;AAP97272;ADQ32989;EAW86003;NP_898881;Q7Z4W2 Hs.522610 1755145 SHGC-142069 OTTHUMP00000019400;lysozyme 2;lysozyme-2;lysozyme-like protein 2 APPROVED protein-coding ENSG00000151033 HGNC:29613 14337 612748 VALIDATED 3210028 LYRM9 LYR motif containing 9 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 3,3',5-triiodo-L-thyronine; dimethyl sulfoxide 17 17 17 q11.2 23067202 23082270 - 26205340 26220409 - 27878314 27893383 - 6480464;8554872 12477932;14702039;24315451 201229 A8MSI8;D6RAR2;D6RFL2;J3QLB4 ABBA01015066;AC005697;AI804732;AK055808;AMYH02033214;AMYH02033215;AY251535;BC018092;CH471159;DB474433;DR155808;NM_001076680;XM_005257943;XM_005257944 A8MSI8;AAP20058;EAW51051;NP_001070148;XP_005258000;XP_005258001 Hs.687951 1647806;1689815 D17S2150;RH11796 C17orf108;HSD24 LYR motif-containing protein 9;OTTHUMP00000222810;UPF0631 protein C17orf108;hypothetical protein LOC201229 APPROVED protein-coding ENSG00000232859 HGNC:27314 VALIDATED 1350038 LYZL1 lysozyme-like 1 ENCODES a protein that exhibits lysozyme activity (inferred); INVOLVED IN cell wall macromolecule catabolic process (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4',5-pentachlorobiphenyl (ortholog) 10 10 10 p12.1 29343639 29365823 + 29577980 29607158 + 29289051 29318328 + 737633;6480464 12477932 11329013;12975309;15164054;15342556;15489334;18519826;20379614;23362303 84569 H0YDZ2;Q6UWQ5 ABBA01034366;ABBA01034367;AI393331;AL158167;AMYH02022545;AY358694;BC021730;BF057063;BG209290;BP369317;CH471072;HC007138;NM_032517;XM_005252627;XR_428650 AAH21730;AAQ89057;ADZ15709;CBH19374;EAW86025;NP_115906;Q6UWQ5;XP_005252684 Hs.558572 1755145 SHGC-142069 KAAG648;LYC2;MGC33408;PRO1278;bA534G20.1 OTTHUMP00000019386;lysozyme-like protein 1 protein-coding ENSG00000120563 HGNC:30502 14336 VALIDATED 1342780 LYZL6 lysozyme-like 6 This gene encodes a member of the C-type lysozyme/alpha-lactalbumin family. C-type lysozymes are bacteriolytic factors that play a role in host defense, whereas alpha-lactalbumins mediate lactose biosynthesis. The encoded protein contains catalytic residues characteristic of C-type lysozymes and may play a role in male reproduction. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011] 17 17 17 q11.2 31171081 31176066 - 34261522 34270714 - 35934518 35943710 - 737633;1580863;6480464 12477932 10213461;11329013;12975309;15489334;16014814;17207965 57151 O75951 ABBA01011242;AC004675;AC244100;AF088219;AY359018;AY742214;BC054481;BE550275;BG195727;CH471147;DB462957;HC007140;HC044567;NM_001199951;NM_020426;XM_005258013;XM_006725329 AAC63332;AAH54481;AAQ89377;AAU93343;ADQ32150;CBH19375;CBH30613;EAW80115;NP_001186880;NP_065159;O75951;XP_005258070;XP_006725392 Hs.97477 1675523 RH92094 1700023H08Rik;LYC1;PRO1485;TKAL754;UNQ754 OTTHUMP00000163949;OTTHUMP00000163950;lysozyme homolog;lysozyme-like protein 6 APPROVED protein-coding ENSG00000275722 HGNC:29614 14339 612751 REVIEWED 1319494 LZIC leucine zipper and CTNNBIP1 domain containing ENCODES a protein that exhibits beta-catenin binding (inferred); INVOLVED IN response to ionizing radiation (inferred); ASSOCIATED WITH Osteosarcoma (ortholog); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; atrazine 1 1 1 p36.22 9100817 9113859 - 9982168 10003460 - 9922110 9943402 - 1580863;2314410;6480464 19444910 11712074;12477932;15489334;16710414;17207965;19913121;20098747;20628086;21139048;24816145 84328 K7ES95;Q8WZA0 AB060688;ABBA01035575;ABBA01035576;AK304348;AK312550;AL357140;AMYH02000257;AMYH02000258;BC007240;BC063443;CH471130;CS300634;NM_032368;XM_005263505;XM_005263506;XM_005263507;XM_005263508;XM_005263509 AAH07240;AAH63443;ADQ32527;BAB72100;BAG35447;BAG65192;CAK32298;EAW71633;EAW71634;NP_115744;Q8WZA0;XP_005263562;XP_005263563;XP_005263564;XP_005263565;XP_005263566 Hs.327252 5491411 MARC_10271-10272:998920602:1 MGC15436 OTTHUMP00000001733;OTTHUMP00000001734;leucine zipper and CTNNBIP1 domain-containing protein;leucine zipper and ICAT homologous domain-containing protein;leucine zipper domain and ICAT homologous domain containing protein-coding ENSG00000162441 HGNC:17497 14340 610458 PROVISIONAL 1319250 LZTR1 leucine-zipper-like transcription regulator 1 This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 4827905 4844645 + 21336558 21353326 + 20982269 20999037 + 1580863;6480464 12477932;15461802;15489334;15761153;16344560;16356934;19060904;19851296;20198315;20211142;21139048;21145461;21906983;21963094;24362817;7633402;8619474;9110174 8216 B7Z3T9;F8WB67;F8WCB6;F8WEQ8;H7BZQ9;H7C0X1;H7C305;Q8N653 ABBA01015433;AC002470;AK296347;AK310747;AK313502;AL833698;AMYH02038086;BC026214;BQ019651;BQ182728;CH471176;CT841521;D38496;DA194822;KF457365;NG_034193;NM_006767;U79243 AAH26214;ABW03361;ABW03703;BAA07508;BAG36282;BAH12325;CAJ86451;CAK54544;CAK54843;EAX02923;NP_006758;Q8N653 Hs.78788 1669454;1797138;2137120;5020713;5094770 AGAT120;LZTR1;MARC_4081-4082:991938342:1;RH69679;SHGC-31563 BTBD29;LZTR-1;MGC21205;SWNTS2;TCFL2 OTTHUMP00000198635;leucine-zipper-like regulator-1;leucine-zipper-like transcriptional regulator 1 APPROVED protein-coding ENSG00000099949 HGNC:6742 08992 600574;615670 REVIEWED 1322012 LYVE1 lymphatic vessel endothelial hyaluronan receptor 1 This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq, Jul 2008] 11 11 11 p15 10700953 10711906 - 10578712 10590365 - 10557866 10568818 - 6480464;8554872 10037799;11689016;11719431;12091407;12477932;12554094;12912978;12975309;15489334;16303743;16335952;16344560;16424896;16569201;17087938;17144490;17884820;18078989;18090227;18181096;18342921;18386053;18564921;18689706;19033446;19291537;19742347;19908110;20011036;20191305;20863269;21291635;21500548;21660043;21912471;21974896;22241180;22673514;23264596;23717428;7829517 10894 B2R672;E7EPC7;F2Z296;Q9Y5Y7 ABBA01061157;AC009532;AF118108;AF127670;AK075443;AK300885;AK312462;AMYH02024327;AMYH02024328;AY358925;BC026231;CA449932;CH471064;CS051263;DA924658;NM_006691 AAD42764;AAD49220;AAH26231;AAQ89284;ABM82966;ABM86158;BAG35369;BAG52138;BAG62527;CAI72127;EAW68565;NP_006682;Q9Y5Y7 Hs.655332 1658332;1850676 D11S4637;RH12873 CRSBP-1;HAR;LYVE-1;XLKD1 OTTHUMP00000230796;OTTHUMP00000230798;cell surface retention sequence binding protein-1;cell surface retention sequence-binding protein 1;extracellular link domain containing 1;extracellular link domain-containing 1;extracellular link domain-containing protein 1;hyaluronic acid receptor;lymphatic vessel endothelial hyaluronic acid receptor 1 APPROVED protein-coding HGNC:14687 05753 605702 REVIEWED 6481267 LZTS1-AS1 LZTS1 antisense RNA 1 8 8 20133284 20147969 + 20275773 20290458 + 100874051 ABBA01021548;AC023403;AC025853;AMYH02017572;BC038538;NR_047509 Hs.385799 APPROVED ncrna ENSG00000253733 HGNC:43630 PREDICTED 1348547 LYZL4 lysozyme-like 4 Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL4 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009] 3 3 3 p22.1 42378992 42392482 - 42438575 42452125 - 42397083 42410609 - 737633;1580863;6480464 12477932 15489334;16014814;17207965;21107309;23824909 131375 Q96KX0 ABBA01024769;AC092048;AF326749;AMYH02006626;BC016747;CH471055;HG931734;NM_144634;XM_005264865;XM_006712968 AAH16747;AAO32946;ADQ31748;CDM98735;EAW64648;NP_653235;Q96KX0;XP_005264922;XP_006713031 Hs.234895 1810009N24Rik;LYC4;LYZA;MGC26768 OTTHUMP00000162604;OTTHUMP00000209346;lysozyme A;lysozyme-4;lysozyme-like protein 4 APPROVED protein-coding ENSG00000157093 HGNC:28387 14338 612750 PROVISIONAL 736900 LZTS1 leucine zipper, putative tumor suppressor 1 This gene encodes a tumor suppressor protein that is ubiquitously expressed in normal tissues. In uveal melanomas, expression of this protein is silenced in rapidly metastasizing and metastatic tumor cells but has normal expression in slowly metastasizing or nonmetastasizing tumor cells. This protein may have a role in cell-cycle control by interacting with the Cdk1/cyclinB1 complex. This gene is located on chromosomal region 8p22. Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer. [provided by RefSeq, Nov 2009] 8 8 8 p22 19066273 19075376 - 20103676 20161492 - 20246165 20303981 - 1600104;1580863;6480464;7240710;8699517 10097140 11464283;11504921;12377406;12477932;12851677;15489334;17349584;18029348;18559591;18686028;19339270;19885841;20038947;20083228;20508983;21419475;23064961;23259602;23551011;23620142;23695671;24802407 11178 Q9Y250 ABBA01021548;AC023403;AC025853;AF123652;AF123653;AF123654;AF123655;AF123656;AF123657;AF123658;AF123659;AMYH02017570;AMYH02017571;BC075006;BC075007;CH471080;HI573950;KF458703;NG_015834;NM_021020;XM_005273394;XM_006716281 AAD23833;AAD23834;AAD23835;AAD23836;AAD23837;AAD23838;AAD23839;AAD23840;AAH75006;AAH75007;ABZ92469;CBX47464;EAW63752;EAW63753;EAW63754;EAW63755;EAW63756;NP_066300;Q9Y250;XP_005273451;XP_006716344 Hs.521432 1656927;1699074;1722199;2110495;2154022;2174061 D8S2124;G60003;LZTS1_9234;RH103113;WI-20580;WIAF-1517 F37;FEZ1 F37/Esophageal cancer-related gene-coding leucine-zipper motif;OTTHUMP00000122524;OTTHUMP00000224720;leucine zipper putative tumor suppressor 1;psd-zip70 2301749;2301750;2301751;2301752;2301753;2301754 PRSTS420_H;PRSTS421_H;PRSTS422_H;PRSTS423_H;PRSTS424_H;PRSTS425_H APPROVED protein-coding ENSG00000061337 HGNC:13861 05945 133239;606551 REVIEWED 1315352 LZTFL1 leucine zipper transcription factor-like 1 This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013] 3 3 3 p21.3 45803051 45821229 - 45864808 45957216 - 45823316 45915724 - 6480464;7240710;8554872;8699517 11352561;12477932;14702039;15146197;16344560;19322201;20233871;20237496;20301537;21139048;21988832;22072986;22510444;22863883;24816145 54585 C9J0R9;F2Z2E6;F8WB22;H7C488;Q9NQ48 ABBA01024720;ABBA01024721;AC098476;AC099782;AJ289880;AJ297351;AK024323;AK027165;AK093705;AK129805;AK303416;AMYH02006668;BC025988;BC042483;BX112707;BX640604;CH471055;CN429018;DA408809;DC410047;HY159348;NG_033917;NM_001276378;NM_001276379;NM_020347;NR_075080;XM_006713207 AAH25988;AAH42483;ABW03334;BAG52751;BAG64469;CAB95836;CAB96873;CAE45710;EAW64749;EAW64750;NP_001263307;NP_001263308;NP_065080;Q9NQ48;XP_006713270 Hs.30824 1853931;2162409;2187493 SHGC-76871;SHGC-76894;WI-19320 BBS17;FLJ36386 OTTHUMP00000164656;OTTHUMP00000210185;leucine zipper transcription factor-like protein 1 protein-coding ENSG00000163818 HGNC:6741 07586 209900;606568 REVIEWED 1350209 M195 membrane external protein 195kDa 4079 HGNC:6747 735254 LYZ lysozyme This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014] 12 12 12 q15 69405811 69411693 + 69742134 69748013 + 69348354 69354233 + 1599840;1599842;6480464;7240710;8554872;8699517 12675840;8464497 10534505;10558865;10561612;11849445;11887182;11927576;11946553;11946554;11986950;12183536;12401807;12477932;12564923;12709420;14976184;15155566;15489334;15713462;15745733;16023673;16126226;16329101;16416029;16441658;16502470;16799949;17054380;17353931;17360367;17407782;17524359;1794972;18029788;18344136;18391951;18434581;19056867;19179970;19380743;19435495;19563039;19615732;20167661;20452482;2061330;20673868;21139048;21145461;21319273;21460390;21486364;21574221;21965601;2207098;22096116;22118674;22952844;23125841;23155290;23264227;23443559;23898208;24308818;24340941;24495950;2467766;24850914;2546758;2829884;2971592;3015198;3413092;366724;5168859;5284421;6876162;7334520;8503881;8566845;8765309;9359845;9659355;9745729;9757091;9883972 4069 B2R4C5;F8VV32;P61626 ABBA01026542;AC020656;AK130127;AK130149;AK311779;AMYH02026709;AMYH02026710;BC004147;CH471054;FJ795023;J03801;KJ841928;M19045;M21119;NG_008195;NM_000239;U25677;X14008 AAA36188;AAA59535;AAA59536;AAC63078;AAH04147;ABM83197;ABM86398;ACO37637;AIL02126;BAG34722;CAA32175;EAW97220;EAW97221;EAW97222;NP_000230;P61626 Hs.524579 1720175;1720177;1721939;1744023;1771857;2179561;5014051;5037552;5106053 D12S1417;D8S2278;D8S2279;G59852;GDB:384857;LYZ;RH123998;RH123999;RH45271 LZM 1,4-beta-N-acetylmuramidase C;OTTHUMP00000240861;OTTHUMP00000240877;c-type lysozyme;lysozyme C;renal amyloidosis APPROVED protein-coding ENSG00000090382 HGNC:6740 01085 105200;153450 REVIEWED 1350753 MAA microphthalmia or anophthalmia and associated anomalies ASSOCIATED WITH Microphthalmia, syndromic 1 (inferred) 7240710 4080 HGNC:6755 309800 1604532 M1AP meiosis 1 associated protein This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 2 2 2 p13.1 74616118 74706273 - 74785010 74875994 - 74557883 74648867 - 6480464;8554872 12477932;16189514;16881047;20379614;20549515;21906983;23269666;9927484 130951 B3KX03;C9JPR9;F8WBR6;F8WEA5;Q8TC57 ABBA01075602;ABBA01075603;ABBA01075604;ABBA01075605;ABBA01075606;ABBA01075607;ABBA01075608;ABBA01075609;AC005033;AC007387;AK126374;AK130161;AK300188;AMYH02004091;BC014602;BC025997;CH471053;DR158220;NM_001281295;NM_001281296;NM_138804;XM_005264150;XM_005264152;XM_006711946;XM_006711947;XM_006711948 AAH14602;AAH25997;AAX93225;BAC85295;BAG54315;BAH13233;EAW99609;EAW99610;EAW99611;NP_001268224;NP_001268225;NP_620159;Q8TC57;XP_005264207;XP_005264209;XP_006712009;XP_006712010;XP_006712011 Hs.348645 1720137;1784252 RH123846;SHGC-171999 C2orf65;D6Mm5e;FLJ44410;SPATA37 OTTHUMP00000202714;OTTHUMP00000202715;hypothetical protein LOC130951;meiosis 1 arrest protein;meiosis 1 arresting protein;meiosis 1-arresting protein;meiosis 1-associated protein;spermatogenesis associated 37;spermatogenesis-associated protein 37;uncharacterized protein C2orf65 APPROVED protein-coding ENSG00000159374 HGNC:25183 14047 REVIEWED 737584 LZTS3 leucine zipper, putative tumor suppressor family member 3 FOUND IN postsynaptic density (ortholog); INTERACTS WITH arsenite(3-); atrazine; paracetamol 20 20 20 p13 3205231 3211165 - 3143263 3154238 - 3162617 3173592 - 6480464 11780052;12477932;16012743;16522626;21840719;23602568;24550385;8889548;9628581 9762 O60299 AB011124;ABBA01053812;ABBA01053813;AL121891;AMYH02036594;BC038860;BU684906;CH471133;HY126776;NM_001282533;XM_005260890;XM_005260891;XM_005260892;XM_005260893 AAH38860;ABM86581;BAA25478;EAX10545;EAX10546;EAX10547;NP_001269462;O60299;XP_005260947;XP_005260948;XP_005260949;XP_005260950 Hs.90232 2132449;2139071;2139073 A005R07;G20430;WI-13669 KIAA0552;PROSAPIP1;RP5-1187M17.10 OTTHUMP00000030091;OTTHUMP00000160460;ProSAP/Shank-interacting protein 1;leucine zipper putative tumor suppressor 3;proSAP-interacting protein 1;proline rich synapse associated protein interacting protein 1 APPROVED protein-coding ENSG00000088899 11461 610484 VALIDATED 1346781 MAATS1 MYCBP-associated, testis expressed 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH silicon dioxide; valproic acid; titanium dioxide (ortholog) 3 3 3 q12-q13.3 117830398 117895034 + 119421869 119485949 + 119703022 119767102 + 6480464;8554872 11701469;12223483;12477932;12692006;14551891;14702039;15863901;17967944;23503679;8889548 89876 F8WC74;F8WEV1;F8WF10;H7C5C8;Q7Z4T9 AB063296;AB063297;AB063298;ABBA01061577;ABBA01061578;AC069444;AC117466;AF364606;AF440403;AF497717;AK055558;AK289914;AK294413;AK302699;AK303997;AK309317;AK311599;AL133066;AMYH02007504;BC035248;BC126394;BU689679;BX647600;CA950011;CB241685;CR749242;DB445414;NM_033364;XM_006713807;XM_006713808;XM_006713809;XR_427386;XR_427387 AAH35248;AAI26395;AAM19218;AAP97317;ADR83405;BAB60902;BAB60903;BAB60904;BAF82603;BAG51535;BAG57663;BAG63926;BAG64914;CAB61389;CAH18098;NP_203528;Q7Z4T9;XP_006713870;XP_006713871;XP_006713872 Hs.341906 1672999;1675311;1847607 AFMa085wg9;RH46147;RH92245 AAT-1;AAT1;AAT1-alpha;AAT1alpha;C3orf15;CaM-IP2;DKFZp781A2221;SPATA26 AMY-1-associating protein expressed in testis 1;MYCBP-binding protein;MYCBP/AMY-1-associated testis-expressed protein 1;MYCBP/AMY-1-associated, testis expressed 1;OTTHUMP00000215234;spermatogenesis associated 26 APPROVED protein-coding ENSG00000183833 HGNC:24010 10782 609910 VALIDATED 1343203 MAB21L1 mab-21-like 1 (C. elegans) This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008] 13 13 13 q13 17114816 17117722 - 36047926 36052786 - 35473789 35476695 - 1580863;6480464 10556287;11526470;12477932;12826745;16344560;21465527;21697133;8733127;9950369 4081 B2R805;F1T0A2;Q13394 AB073388;AB593021;AB593022;ABBA01010168;AK313185;AL390071;AMYH02027856;BC028170;CH471075;CR457420;DA611205;DA909813;NG_016811;NG_028156;NM_005584 AAH28170;ABM82648;ABM85825;BAE45718;BAG36002;BAJ83976;BAJ83977;CAG33701;EAX08547;NP_005575;Q13394 Hs.584776 1676468;2108223;2177716 G09543;MAB21L1_8448;RH80830 CAGR1;FLJ10197;Nbla00126 OTTHUMP00000018238;mab-21-like protein 1;protein mab-21-like 1 APPROVED protein-coding HGNC:6757 03178 601280 REVIEWED 1323458 MAB21L2 mab-21-like 2 (C. elegans) This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008] 4 4 4 q31 148822534 148825268 + 151503077 151505845 + 150581925 150584693 + 6480464 10556287;12477932;14702039;17207965;21832049;23602568;24906020 10586 Q9Y586 ABBA01070091;AC110813;AF155219;AF262032;AF370007;AK055665;AMYH02010294;BC009983;CH471056;NG_032855;NM_006439 AAD40248;AAG09800;AAH09983;AAK54206;ADQ32673;BAG51549;EAX04998;EAX04999;EAX05000;NP_006430;Q9Y586 Hs.584852 FLJ31103;MCOPS14 OTTHUMP00000220230;protein mab-21-like 2 APPROVED protein-coding ENSG00000181541 HGNC:6758 05075 604357;615877 REVIEWED 1343241 LZTS2 leucine zipper, putative tumor suppressor 2 INVOLVED IN kidney development (inferred); microtubule severing (inferred); mitotic nuclear division (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome (inferred); cytoplasm (inferred); microtubule (inferred); INTERACTS WITH atrazine; cadmium atom; copper(2+) sulfate 10 10 10 q24 96494688 96505313 + 102756864 102767593 + 100997107 101007836 + 6480464;8554872 11347906;11709705;12477932;14702039;15231748;15489334;16189514;16385451;16713569;17000760;17950943;18490357;20508983;21139048;21163940;21890473;21988832;23000965;23275340;23398456;23443559;23602568;23761130;24255178;24324551;24550385;24722188;8889548 84445 B1AL11;B1AL12;B1AL13;Q9BRK4;S4R3W7 AB058716;ABBA01063209;ABBA01063210;ABBA01063211;AK097997;AK298208;AL133215;AL834338;AMYH02023664;AY029201;BC005855;BC006212;BC058938;BM544815;CB243010;CH471066;NM_032429;XM_005270222;XM_005270223;XM_005270224;XM_006718032 AAH05855;AAH06212;AAH58938;AAK31577;BAB47442;BAG60478;CAD39005;EAW49790;EAW49791;EAW49792;NP_115805;Q9BRK4;XP_005270279;XP_005270280;XP_005270281;XP_006718095 Hs.523221;Hs.734981 1675991 RH92972 KIAA1813;LAPSER1;RP11-108L7.8;hLZTS2 OTTHUMP00000020289;OTTHUMP00000020290;leucine zipper putative tumor suppressor 2 protein-coding ENSG00000107816 HGNC:29381 14341 610454 VALIDATED 6480856 MACC1-AS1 MACC1 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 7 7 20181539 20193154 + 20141916 20153531 + 8554872 100874041 ABBA01056667;AC005083;AC007001;AMYH02015329;BX114725;HG500063;NR_046756 Hs.145104 AC007001.4 APPROVED ncrna ENSG00000228598 HGNC:41257 PREDICTED 1602631 MACC1 metastasis associated in colon cancer 1 MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009] 7 7 7 p21.1 20158544 20241270 - 20174278 20257013 - 20134655 20217390 - 6480464;8554872 12477932;18029348;19098908;19499089;19556890;19787327;19807924;20682999;20944120;21093878;21447729;21498695;21508357;21734401;21923915;21955323;22179665;22251819;22484916;22493396;22533346;22814258;22838389;23095620;23166620;23232575;23291068;23414367;23457029;23573286;23648065;23665971;23717574;23737034;23812675;23982875;24065195;24124150;24163085;24220141;24310811;24425103;24465159;24910416;8889548 346389 Q6ZN28 ABBA01056667;ABBA01056668;AC005083;AC007001;AF086401;AJ313524;AK128850;AK131400;AL359055;AMYH02015329;BC137090;BC144470;CB240872;CH236948;CH471073;NM_182762 AAI37091;BAC87646;BAD18547;CAC86408;EAL24276;EAW93719;NP_877439;Q6ZN28 Hs.598388 1341226;1786666;2157041;5014051;5022651;5037552;7187839 D11S2921;D7S2551;D8S2278;D8S2279;GDB:1317646;SHGC-152029 7A5;SH3BP4L OTTHUMP00000158523;OTTHUMP00000201891;SH3 domain-containing protein 7a5;metastasis-associated in colon cancer protein 1;putative binding protein 7a5 APPROVED protein-coding ENSG00000183742 HGNC:30215 12381 612646 VALIDATED 2974664 MACROD2-AS1 MACROD2 antisense RNA 1 20 20 p12.1 14864899 14910161 - 14884253 14929518 - 100379174 ABBA01053990;ABBA01053991;AL138808;AL161800;AMYH02036739;BC039528;BX417920;HG511207;HG511208;HY015789;KF456840;NR_037841;NR_072988;NR_110318 Hs.407533 1677088 RH92861 BA318C17.1;NCRNA00186 APPROVED ncrna ENSG00000235914 HGNC:37193 VALIDATED 1354089 M6PR mannose-6-phosphate receptor (cation dependent) This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011] 12 12 12 p13 10630371 10639657 - 9092957 9102357 - 8940361 8949761 - 1580863;6480464 10799489;10829017;11106728;11387475;11859375;11886874;12223278;12477932;12493773;12697764;14702039;15044437;15078902;15167696;15469932;15489334;15620351;16751776;17207965;17210618;17255364;18003638;18088323;18367545;1849818;18621992;19345684;19801188;19928875;19946888;20351714;21139048;2172972;22015004;22163010;22268729;22768187;22939629;24407285;2441386;2960682;7640295;8099077;8125298;8674621;9590177;9604938 4074 F5GXE0;F5GXU0;F5H4U1;F5H883;H0YF90;H0YFL0;H0YFY9;H0YGE9;H0YGT2;P20645 AA648974;ABBA01012257;AC006581;AK057556;AK222792;AK291143;AK312689;AMYH02025995;AX498275;AX961802;BC017111;BC024206;BG750588;BM546062;BU166950;CH471116;CR457412;DC341018;M16985;NM_001207024;NM_002355;X56253;X56254;X56255;X56256;X56257;XM_005253376 AAA59542;AAH17111;AAH24206;ADQ32047;BAD96512;BAF83832;BAG35569;CAB94715;CAD48709;CAF06410;CAG33693;EAW88596;EAW88597;EAW88598;EAW88599;NP_001193953;NP_002346;P20645;XP_005253433 Hs.134084;Hs.744902 1645397;1685035;1742897 GDB:214831;RH104;STS-X56253 CD-MPR;FLJ32994;MPR 46;MPR-46;MPR46;SMPR 46 kDa mannose 6-phosphate receptor;46-kDa mannose 6-phosphate receptor;CD Man-6-P receptor;Mr 46,000 Man6PR;OTTHUMP00000238493;cation-dependent mannose-6-phosphate receptor;small mannose 6-phosphate receptor APPROVED protein-coding ENSG00000003056 HGNC:6752 01106 154540 REVIEWED 1602303 MAB21L3 mab-21-like 3 (C. elegans) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cadmium atom 1 1 1 p13.1 114883120 114906605 + 116654376 116677861 + 116111755 116135240 + 6480464;8554872 12477932;14702039 126868 Q8N8X9 ABBA01068483;AK096035;AL121982;AMYH02001790;BC128148;BC128149;CH471122;NM_152367;XM_006710341 AAI28149;AAI28150;BAC04682;EAW56642;EAW56643;NP_689580;Q8N8X9;XP_006710404 Hs.376194 5022615 D11S2467 C1orf161;FLJ38716;RP5-1185H19.1 OTTHUMP00000013940;hypothetical protein LOC126868;protein mab-21-like 3 APPROVED protein-coding ENSG00000173212 HGNC:26787 08245 VALIDATED 1348588 MACROD2-IT1 MACROD2 intronic transcript 1 (non-protein coding) 20 14554384 14628908 + 140848 ABBA01053984;ABBA01053985;ABBA01053986;ABBA01053987;AL121582;AL139825;AMYH02036734;CR747489;HG511205;NR_104193 Hs.570367 C20orf68;NCRNA00227;bA467D7.4 non-protein coding RNA 227 APPROVED ncrna HGNC:16201 VALIDATED 1347920 MACROD2 MACRO domain containing 2 ENCODES a protein that exhibits deacetylase activity; hydrolase activity, acting on glycosyl bonds; INVOLVED IN cellular response to DNA damage stimulus; protein de-ADP-ribosylation; purine nucleoside metabolic process; ASSOCIATED WITH HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (inferred); Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH aflatoxin B1; amiodarone; benzo[a]pyrene 20 20 20 p12.1 14051522 16108818 + 13976146 16033842 + 13995500 16053197 + 6480464;8554872 12477932;16344560;17586838;18593871;18655026;18987618;19240061;19553259;19820697;19847924;20044523;20379614;20663923;20708005;20811636;21656903;23251661;23471985;23509613;23568457;24529757 140733 A1Z1Q3 ABBA01053978;ABBA01053979;ABBA01053980;ABBA01053981;ABBA01053982;ABBA01053983;ABBA01053984;ABBA01053985;ABBA01053986;ABBA01053987;ABBA01053988;ABBA01053989;ABBA01053990;ABBA01053991;ABBA01053992;ABBA01053993;ABBA01053994;ABBA01053995;ABBA01053996;ABBA01053997;ABBA01053998;ABBA01053999;ABBA01054000;ABBA01054001;ABBA01054002;ABBA01054003;ABBA01054004;AC006198;AK125899;AK131348;AL031677;AL035073;AL049633;AL049867;AL050324;AL079338;AL117333;AL118503;AL118510;AL121582;AL121584;AL132826;AL133462;AL136991;AL136992;AL138808;AL139825;AL158088;AL161800;AL353798;AL354773;AL355133;AL357654;AMYH02036726;AMYH02036727;AMYH02036728;AMYH02036729;AMYH02036730;AMYH02036731;AMYH02036732;AMYH02036733;AMYH02036734;AMYH02036735;AMYH02036736;AMYH02036737;AMYH02036738;AMYH02036739;AMYH02036740;AMYH02036741;AMYH02036742;AMYH02036743;AMYH02036744;AMYH02036745;AMYH02036746;AMYH02036747;AMYH02036748;AMYH02036749;AMYH02036750;BC018687;BC035876;BC036403;BC101216;BC101217;BC101218;BC101219;BC126936;BC128036;BX281637;CH471133;DB125529;DB495787;DR001087;EF159161;KF456834;KF456835;KF456836;KF456838;KF456840;KF456841;KF511289;NM_001033087;NM_080676;XM_005260667;XM_006723544 A1Z1Q3;AAH18687;ABM46908;BAD18504;BAG54262;EAX10302;NP_001028259;NP_542407;XP_005260724;XP_006723607 Hs.661576 1337756;1339198;1339278;1339321;1340195;1340493;1341144;1645235;1645655;1646106;1650517;1657002;1659274;1659483;1662825;1673426;1673461;1677088;1693362;1693384;1693424;1693426;1693480;1694236;1708590;1713889;1715739;1716249;1717493;1718751;1718887;1724073;1724961;1724963;1725505;1729506;1729954;1731443;1738465;1748913;1749281;1750377;1752259;1753097;1753295;1753317;1753337;1753543;1754785;1755049;1759501;1759967;1761047;1768594;1775715;1846749;1850670;2110409;2115222;2118576;2121984;2122214;2122530;2125856;2128903;2131205;2134847;2137885;2139463;2141261;2141612;2144547;2146767;2150290;2159764;2164078;2169235;2169773;2171320;2176180;2178847;2179461;2180144;2181017;2184421;2187315;5014051;5022578;5037552;7186548;7186882 AL034504;AL034525;AL034526;AL034539;AL035219;D1S1423;D20S1045;D20S138;D20S152;D20S155;D20S166;D20S447;D20S495;D20S497;D20S51;D20S623;D20S66;D20S747;D20S753;D20S798;D20S830;D20S852;D20S898;D20S904;D20S910;D20S98;D8S2278;D8S2279;FLRT3__6738;G10360;G10547;G18071;GDB:314281;RH118768;RH118769;RH118777;RH119149;RH119316;RH119375;RH121152;RH122252;RH123065;RH123149;RH35903;RH68531;RH92861;SGC34935;SHGC-106150;SHGC-110571;SHGC-110959;SHGC-111266;SHGC-112569;SHGC-140535;SHGC-141990;SHGC-145001;SHGC-150944;SHGC-58147;SHGC-68731;SHGC-68832;SHGC-82516;SHGC-84071;SHGC-84441;SHGC-85084;STS-H89893;STS-M78325;WI-10088;Z94278;Z94290;Z94292;Z94312;Z94329;Z94344;Z94377;Z94420;Z94426;Z94442;Z94445;Z94497;Z94528;Z94534;Z94551;Z94565;Z94582;Z94613;Z94632;Z94634;Z94649;Z94697;Z94707 C20orf133;RP11-189J1.1;dJ631M13.5 MACRO domain-containing protein 2;O-acetyl-ADP-ribose deacetylase;O-acetyl-ADP-ribose deacetylase MACROD2;OTTHUMP00000109425;OTTHUMP00000200340;[Protein ADP-ribosylglutamate] hydrolase protein-coding ENSG00000172264 HGNC:16126 16640 611567 VALIDATED 1352225 MACF1 microtubule-actin crosslinking factor 1 This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013] 1 1 1 p32-p31 37828167 38234164 + 39549839 39952810 + 39084167 39487138 + 1580863;6480464;8554872 10529403;10559237;10574462;10601340;1074709;10747097;11112700;11443112;11845288;12168954;12421765;12477932;14636561;14702039;15231748;15265687;15604093;16076900;16097034;16344560;16710414;16815997;17043677;17081983;17113391;18239623;18685082;19405953;19738201;19913121;20237496;20379614;20395553;20628086;20686565;20811636;20936779;20937854;21139048;21145461;21295697;21890473;22505724;22586326;22863883;22939629;23000965;23184944;23667531;24163370;24250222;24816145;7635207;9455484 23499 B4DQX9;B4E2T3;E9PLY0;E9PLY5;E9PNZ4;E9PS75;H0Y314;H0Y390;H0Y4F5;H0Y6T5;H0Y7I1;H0YD69;H3BPE1;H3BQK9;Q6ZSD7;Q9UPN3 AB007934;AB029290;AB033077;ABBA01023209;ABBA01023210;ABBA01023211;ABBA01023212;ABBA01023213;ABBA01023214;ABBA01023215;ABBA01023216;ABBA01023217;ABBA01023218;ABBA01023219;ABBA01023220;AF317696;AF325327;AF325328;AF325341;AF325342;AF325343;AI400583;AK023285;AK023406;AK023821;AK127519;AK297854;AK299010;AK304414;AL137853;AL355477;AL356055;AL365277;AL442071;AMYH02000826;AMYH02000827;AMYH02000828;AMYH02000829;AMYH02000830;AMYH02000831;AMYH02000832;AMYH02000833;BC007330;BC071925;BC107866;BX107650;BX647441;CH471059;DA512687;DR423112;HI574076;HI574078;KF495921;L40626;NM_012090;XM_005270694;XM_005270695;XM_005270696;XM_005270697;XM_005270698;XM_005270700;XM_006710519;XM_006710520;XM_006710521;XM_006710522;XM_006710523;XM_006710524;XM_006710525;XM_006710526;XM_006710527;XM_006710528;XM_006710529;XM_006710530;XM_006710531;XM_006710532;XM_006710533;XM_006710534;XM_006710535;XM_006710536;XM_006710537;XM_006710538;XM_006710539;XM_006710540 AAC31661;AAH07330;AAH71925;AAI07867;AAL09459;AAL38995;AAL38996;AAL38997;AAL38998;AAL38999;AAL39000;BAA32310;BAA83821;BAA86565;BAB14509;BAC87016;BAG60186;BAG61091;BAG65245;CBX47527;CBX47528;EAX07274;EAX07275;EAX07276;EAX07277;EAX07278;EAX07279;EAX07280;EAX07281;EAX07282;NP_036222;Q9UPN3;XP_005270751;XP_005270752;XP_005270753;XP_005270754;XP_005270755;XP_005270757;XP_006710582;XP_006710583;XP_006710584;XP_006710585;XP_006710586;XP_006710587;XP_006710588;XP_006710589;XP_006710590;XP_006710591;XP_006710592;XP_006710593;XP_006710594;XP_006710595;XP_006710596;XP_006710597;XP_006710598;XP_006710599;XP_006710600;XP_006710601;XP_006710602;XP_006710603 Hs.472475;Hs.692278 1337976;1341136;1661420;1665392;1692532;1724361;1724969;1744357;1780086;1857279;2123348;2129852;2134547;2164834;2166308;2182525;5015619;5019687;5022200;5022651;5037552;5093686;7187090 A009E27;A009U48;AL009294;AL010132;AL033918;D11S2921;D11S3114;D1S1591;D4S1629;D4S175;D4S192;D8S2279;G32478;G32864;GDB:451809;L18426;RH118772;RH122343;RH70142;SHGC-154406;SHGC-74632;SHGC-74638;SHGC-74734 ABP620;ACF7;FLJ45612;FLJ46776;KIAA0465;KIAA1251;MACF;OFC4 620 kDa actin binding protein;OTTHUMP00000009301;OTTHUMP00000009302;OTTHUMP00000009303;OTTHUMP00000234541;actin cross-linking family protein 7;macrophin 1;microtubule-actin cross-linking factor 1;trabeculin-alpha APPROVED protein-coding ENSG00000127603 HGNC:13664 09750 608271 REVIEWED 1603052 MACROD1 MACRO domain containing 1 ENCODES a protein that exhibits deacetylase activity; hydrolase activity, acting on glycosyl bonds; INVOLVED IN cellular response to DNA damage stimulus; protein de-ADP-ribosylation; purine nucleoside metabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 11 11 11 q11 61092805 61259693 - 63766006 63933602 - 63998558 64166130 - 6480464;8554872 12107411;12477932;12578638;12790785;15489334;15691879;16368544;16831279;17532767;17914104;19022849;19403568;19698216;19824120;19840441;19958623;20035625;20355243;21483817;23824909 28992 Q9BQ69 ABBA01003284;ABBA01003285;AF086206;AF202922;AMYH02024925;AMYH02024926;AMYH02024927;AMYH02024928;AMYH02024929;AMYH02024930;AP000721;AP006333;BC000270;BC003188;BC007297;BC008316;BQ637198;CH471076;NM_014067;XM_005273939;XM_005273940;XM_005273941;XM_006718521;XM_006718522 AAF15294;AAH00270;AAH03188;AAH07297;AAH08316;EAW74192;EAW74193;NP_054786;Q9BQ69;XP_005273996;XP_005273997;XP_005273998;XP_006718584;XP_006718585 Hs.602898 1645604;1715087;1737029;1754901;2109311;2131264;2186685 D11S2779;FLRT1__6736;G19248;RH119495;SGC33133;SHGC-141828;STS-R38365 LRP16 MACRO domain-containing protein 1;O-acetyl-ADP-ribose deacetylase;O-acetyl-ADP-ribose deacetylase MACROD1;OTTHUMP00000237037;[Protein ADP-ribosylglutamate] hydrolase protein-coding ENSG00000133315 HGNC:29598 17448 610400 VALIDATED 1319368 MAD2L1BP MAD2L1 binding protein The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 45148900 45160310 + 43597279 43608689 + 43629542 43640952 + 1580863;6480464 10942595;11591653;12456649;12477932;14574404;15257285;15489334;16169070;16189514;16525508;17207965;17934339;18022368;19060904;19276188;20360068;21300909;21772247;21890473;21906983;21937719;21963094;21965286;22100920;22235654;22544748;22566641;22939629;23000965;24131926;24596092;7788527 9587 Q15013 AA883912;ABBA01050671;AK297172;AL136131;AL353602;AL537692;AMYH02013650;BC002904;BE297042;BI255998;BU845738;CB991410;CH471081;CR456893;D14811;NM_001003690;NM_014628 AAH02904;ADQ31873;BAA03552;BAG59665;CAG33174;EAX04219;NP_001003690;NP_055443;Q15013 Hs.122346;Hs.715485 1672713;1684826;2115602;2144889;2150945;2154917 D6S2070;RH17380;RH25335;RH46838;SHGC-35799;WI-18748 CMT2;KIAA0110;MGC11282;RP1-261G23.6 MAD2L1-binding protein;OTTHUMP00000016496;OTTHUMP00000221652;caught by MAD2 protein APPROVED protein-coding ENSG00000124688 HGNC:21059 10065 REVIEWED 1346709 MAD2L1P1 MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene 1 14 14 14 q23.1 41296830 41298232 + 61246583 61247985 + 60779865 60781267 + 326596 ABBA01018290;AL132777;AMYH02029301;NG_002592 1685794;1744283 GDB:451562;RH80245 MAD2L1P APPROVED pseudo HGNC:20019 INFERRED 1316729 MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast) The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008] 1 1 1 p36 10846601 10863739 - 11734537 11751678 - 11674480 11691621 - 1580863;6480464;6907045 10366450;10527948;10660610;11277934;11459825;11459826;11485998;11717438;12477932;12529368;12951035;14667819;14702039;15189446;15380106;15489334;15988022;16618761;16710414;17044027;17268814;17296730;17333263;17541814;17719540;18624398;19060904;19443654;19753112;20054135;20164194;20360068;20554254;21139048;21143968;21152103;21690293;21890473;21906983;21926160;22303021;22505724;22589738;22660985;22828282;22859296;22869133;23000965;23007861;23254330;23287467;24100295;24597627 10459 B1AK43;B1AK44;B1AK45;B1AK46;B1AK47;Q9UI95 ABBA01003057;AF072933;AF080398;AF139365;AF157482;AK027327;AK094316;AL031731;AMYH02000299;AMYH02000300;BC015244;BI517654;CH471130;DQ017900;NM_001127325;NM_006341;XM_005263423 AAD30290;AAD41647;AAF20267;AAF34357;AAH15244;AAY26393;ABM81964;ABM85143;BAG51305;BAG52858;EAW71697;EAW71698;EAW71699;NP_001120797;NP_006332;Q9UI95;XP_005263480 Hs.19400 1681610;1734206;2126430 D1S1742E;G16288;RH80622 MAD2B;POLZ2;REV7;hREV7 MAD2 (mitotic arrest deficient, yeast, homolog)-like 2;MAD2-like protein 2;OTTHUMP00000002273;OTTHUMP00000002274;OTTHUMP00000002275;OTTHUMP00000002276;OTTHUMP00000002278;REV7 homolog;mitotic arrest deficient 2-like protein 2;mitotic arrest deficient homolog-like 2;mitotic spindle assembly checkpoint protein MAD2B;polymerase (DNA-directed), zeta 2, accessory subunit APPROVED protein-coding ENSG00000116670 HGNC:6764 07246 604094 REVIEWED 1605917 MAEL maelstrom spermatogenic transposon silencer ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN DNA methylation involved in gamete generation (ortholog); gene silencing by RNA (ortholog); piRNA metabolic process (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); nucleus (ortholog); P granule (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; fonofos; formaldehyde 1 1 1 q24.1 140063652 140096580 + 166958394 166991451 + 166975582 167022214 + 6480464;8554872 12477932;14702039;15489334;16710414;17207965;18029348;18694567;19064610;19536175;19693694;20379614;23929794;24189637;25036637 84944 E9JVC4;Q96JY0;X6RGB1 ABBA01047253;AK027810;AK131066;AK302253;AL009182;AL133073;AL158837;AMYH02002081;BC028595;BC034310;CH471067;DQ076156;GU383113;GU383114;NM_001286377;NM_001286378;NM_032858;XM_006711582;XM_006711583 AAH28595;AAH34310;AAY82463;ADQ32386;ADU33235;ADU33236;BAB55385;BAG63605;CAB61396;EAW90780;EAW90781;EAW90782;NP_001273306;NP_001273307;NP_116247;Q96JY0;XP_006711645;XP_006711646 Hs.651245 2148880;5015861;5022651;7185938 D10S16;D11S2921;G16295 CT128;FLJ14904;RP11-102C16.1;SPATA35 OTTHUMP00000032343;OTTHUMP00000032344;cancer/testis antigen 128;maelstrom homolog;spermatogenesis associated 35 APPROVED protein-coding ENSG00000143194 HGNC:25929 08609 611368 VALIDATED 1344591 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 312275 321128 - 496487 505343 + 496490 505343 + 1580863;2311550;2311544;2311545;2311549;6480464 11703369;14670821;17827401;9313747 10702270;11705388;11807247;12100519;12477932;12586641;12588680;12724634;14669317;14702039;15050155;15057824;15483224;16344560;16750586;18308860;19157500;19286444;21296888;23297416;23839340;2474557;8502297;8609404;8989586;9162097;9212736;9233649;9655832;9873398 8174 Q13477;U3KQ59 ABBA01002565;ABBA01002566;AC005775;AK092211;AMYH02035111;AY732484;AY819760;BC136408;BC137506;BC137507;BC142629;BC144065;CH471242;DB323303;DQ076657;NM_130760;NM_130762;U43628;U80012;U80013;U80014;U80015;U80016;U82483 AAB02194;AAC13661;AAC51354;AAC62844;AAI36409;AAI37507;AAI37508;AAI42630;AAI44066;AAV33123;AAV68345;AAY82472;EAW61194;EAW61195;NP_570116;NP_570118;Q13477 Hs.102598 1666889;1677626 RH93497;SGC33099 MACAM1 MAdCAM-1;hMAdCAM-1;mucosal addressin cell adhesion molecule 1;mucosal addressin cell adhesion molecule-1 APPROVED protein-coding ENSG00000099866 HGNC:6765 00035 102670 REVIEWED 1322050 MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008] 4 4 4 q27 118360054 118367490 - 120980577 120988013 - 120059422 120066858 - 1580863;6480464;6907045 10200259;10366450;10527948;10660610;10700282;10706629;11134360;11181178;11274370;11285280;11438673;11459825;11459826;11535616;11551900;11572763;11702782;11707408;11741929;11742988;11799067;11804586;11907259;11912137;12006501;12196507;12351790;12456649;12477932;12574116;12640463;12970887;13678590;14561775;14593737;14607335;15013707;15024386;15070740;15257285;15306814;15457580;15484292;15489334;15525512;15563594;15591789;15694304;15824131;16112690;16189514;16214181;16275333;16495226;16497171;16525508;16714000;17210994;17268814;17333263;17353931;17360335;17363900;17443180;17443186;17498870;17621272;17934339;17998396;18022367;18022368;18318601;18354482;18383837;18423499;18477210;18541701;18592005;18597777;18691855;18692475;18712773;18715617;18794143;18852296;18953867;18981471;18997788;19098431;19154722;19229290;19261806;19276188;19461085;19468067;19615732;19620968;19719327;19826003;19904549;20007324;20081372;20132188;20189264;20190817;20231385;20332099;20360068;20440596;20459534;20512932;20516147;20624899;20643875;20923822;21041666;21046120;21063845;21139048;21145461;21326311;21335556;21376419;21407176;21472690;21525009;21575600;21665145;21743465;21751967;21772247;21832049;21890473;21906983;21926987;21963094;21988832;22000412;22037211;22053931;22069160;22100920;22170163;22174851;22193957;22340593;22405866;22505724;22797604;22869558;22992948;23000965;23007648;23160376;23239745;23382044;23443559;23454898;23455922;23643811;23754430;23791783;23995871;24151075;24250222;24344181;24425774;24457600;24491803;24581499;24596092;24654460;24711138;24747134;24792619;24816145;25012665;25036637;25092294;8125298;8824189;9092546;9345911;9356466;9546394;9615237;9628895;9637688;9736712 4085 D6RJE3;Q13257 AA443733;AB056160;ABBA01044719;AC097173;AF202273;AF394735;AJ000186;AK223433;AK298228;AK313827;AMYH02009996;BC000356;BC005945;BC070283;CH471056;NM_002358 AAH00356;AAH05945;AAH70283;AAK38174;AAN74648;AAY40945;ACE86742;ACE87428;BAB63410;BAD97153;BAG36562;BAG60497;CAA03943;EAX05270;EAX05271;EAX05273;NP_002349;Q13257 Hs.591697 1681724;1685794;1744283;2108817;5023097 GDB:451562;MAD2L1;MAD2L1_7819;RH80245;SHGC-68173 HSMAD2;MAD2 MAD2 (mitotic arrest deficient, yeast, homolog)-like 1;MAD2-like protein 1;OTTHUMP00000163919;mitotic arrest deficient 2-like protein 1;mitotic arrest deficient, yeast, homolog-like 1;mitotic spindle assembly checkpoint protein MAD2A APPROVED protein-coding HGNC:6763 03274 601467 REVIEWED 1604438 MAFA v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008] 8 8 8 q24.3 140823405 140824466 - 144510230 144512602 - 143428060 143430432 - 6480464;6907045 11416124;12011435;12368292;14973194;15664997;15664999;15665000;15993959;16847327;17636040;17941991;18042454;18508668;18522939;18753309;18948074;19393272;19407223;19573128;20158571;20208071;20213756;20718938;21278380;21278484;22761608;22847061;23660596;23863625;24013263;24157940 389692 Q8NHW3 AB086960;ABBA01005253;AC105118;AMYH02018940;AY083269;NM_201589 AAI56444;AAL89527;BAC20389;NP_963883;Q8NHW3 Hs.521914 1791766 PMC124472P1 RIPE3b1 OTTHUMP00000228235;hMafA;pancreatic beta-cell-specific transcriptional activator;transcription factor MafA;transcription factor RIPE3b1 APPROVED protein-coding ENSG00000182759 HGNC:23145 14346 610303 VALIDATED 1320456 MAEA macrophage erythroblast attacher This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. The encoded protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 4 4 4 p16.3 1215633 1265565 + 1283642 1333925 + 1251817 1340137 + 6480464 12477932;14702039;16196087;16289162;16510120;17467196;18029348;21139048;21890473;21906983;21963094;21987572;22158537;22456796;22505724;22797925;22863883;22939629;22952844;23000965;23251661;23566571;23667531;23945395;9763581 10296 B4DQT1;B4DVN3;D6R8Z3;D6RA86;D6RDW4;D6RE80;D6REW7;D6RIB6;D6RID6;E7ESC7;Q7L5Y9 AB208907;ABBA01019362;ABBA01019363;AC078852;AC092535;AF084928;AK001088;AK022515;AK022586;AK091951;AK094253;AK125501;AK127875;AK128302;AK296174;AK298944;AK300572;AK301155;AK308901;AMYH02008578;AMYH02008579;AMYH02008580;AY189687;AY236486;BC001225;BC006470;BT006957;BU607457;CH471131;DC299400;DC331820;DC400017;NM_001017405;NM_001297430;NM_001297431;NM_001297432;NM_001297433;NM_005882;NR_123716;XM_005272243;XM_005272247;XM_006713849;XM_006713850;XM_006713851 AAC67543;AAH01225;AAH06470;AAO85220;AAP35603;AAP74806;BAA91499;BAB14072;BAB14113;BAD92144;BAG52449;BAG54590;BAG58910;BAG61043;BAG62274;BAG62745;EAW82586;EAW82587;EAW82588;EAW82589;EAW82590;EAW82591;EAW82592;EAW82593;EAW82594;EAW82595;EAW82596;NP_001017405;NP_001284359;NP_001284360;NP_001284361;NP_001284362;NP_005873;Q7L5Y9;XP_005272300;XP_005272304;XP_006713912;XP_006713913;XP_006713914 Hs.139896 1690244;1749329;1764895;1796270;1854676 HSCZXD042;MAEA_904;RH91095;SHGC-111090;SHGC-148451 EMLP;EMP;GID9;HLC-10;PIG5 GID complex subunit 9, FYV10 homolog;OTTHUMP00000217706;OTTHUMP00000217707;OTTHUMP00000217708;OTTHUMP00000217709;OTTHUMP00000217710;OTTHUMP00000217711;OTTHUMP00000217716;OTTHUMP00000217718;cell proliferation-inducing gene 5 protein;erythroblast macrophage protein;human lung cancer oncogene 10 protein;lung cancer-related protein 10;proliferation-inducing gene 5 APPROVED protein-coding ENSG00000090316 HGNC:13731 08427 606801 REVIEWED 1601952 MAF1 MAF1 homolog (S. cerevisiae) This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 141496826 141500038 + 145159305 145162515 + 144104402 144107612 + 6480464 10737800;11230166;11256614;11438659;12477932;12504022;15489334;16169070;16189514;17081983;17205138;17207965;17499043;17505538;19060904;20233713;20543138;20817737;21383183;21428925;21900206;21906983;21963094;22810236;23673667;8889548 84232 E9PJ05;E9PR76;E9PSH4;H0YEV4;Q9H063 ABBA01005225;AC104592;AL136937;AMYH02018956;BC014082;BC018714;BC031273;BE093055;BE515145;BF339064;BF984144;BG179308;BG757465;BM721318;CH471162;CR533463;DN997000;NM_032272 AAH14082;AAH18714;AAH31273;ADQ31906;ADZ16003;CAB66871;CAG38494;EAW82158;EAW82159;NP_115648;Q9H063 Hs.19673 1689937;2124587 RH65611;RH79825 MGC20332;MGC31779;MGC39758 OTTHUMP00000229044;OTTHUMP00000229045;OTTHUMP00000229046;homolog of yeast MAF1;repressor of RNA polymerase III transcription MAF1 homolog APPROVED protein-coding ENSG00000179632 HGNC:24966 14345 610210 REVIEWED 1346502 MAFD1 major affective disorder 1 ASSOCIATED WITH Major Affective Disorder 1 (inferred) 7240710 8533768 4095 1339053;1729916;5024426;7185374 D18S1150;D18S1353;D18S40;D18S71 HGNC:6777 125480 732545 MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008] 20 20 20 q11.2-q13.1 36024991 36028352 - 39314488 39317880 - 40685848 40689240 - 1580863;6480464;8699517;7240710;8554872 10444328;10698492;10909854;11036080;11780052;12196529;12477932;12499396;12542795;12542796;12798298;14702039;14965474;15107855;15121870;15135046;15489334;15598817;16219768;16344560;16456583;16473681;18029348;18615156;18830254;18832725;19013005;19060906;19332055;19395026;20211142;20436469;20506502;20581830;20686565;20969674;21129249;21567910;21732829;21834038;21839147;21988832;22387013;22753311;22903061;23225151;23251661;23661758;23863625;23956186;24097068;24472656;8001130;8620536;8632993 9935 Q9Y5Q3 ABBA01052564;AF086178;AF134157;AK027324;AL035665;AMYH02037078;BC028098;BC036689;BQ271704;CH471077;DA719830;NG_023378;NM_005461 AAD30106;AAH28098;AAH36689;BAG51303;EAW76000;NP_005452;Q9Y5Q3 Hs.169487 1699042;1775178;1792996;5017831 G06850;MAFB;PMC180917P2;RH103094 KRML;MCTO;MGC43127;maf-B Kreisler maf-related leucine zipper homolog;MAFB/Kreisler basic region/leucine zipper transcription factor;OTTHUMP00000031698;transcription factor MafB;v-maf musculoaponeurotic fibrosarcoma oncogene family, protein b (avian) APPROVED protein-coding ENSG00000204103 HGNC:6408 07129 166300;608968 REVIEWED 1312218 MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p22 1824029 2242272 - 1855428 2272583 - 1815792 2232948 - 1599865;6480464;6907045;7240710;8699517;8554872 11423979 10049595;10198256;10229200;10366450;10593926;10597320;10660610;11101889;11106735;11181178;11370785;11459826;11707408;11804586;11980658;12006501;12351790;12477932;12853948;12876282;14702039;14978040;15282543;15302935;15388328;15489334;15694304;15782113;15824131;16189514;16288203;16341674;16565220;16713569;16964243;17333263;17363900;17674037;17998396;18029348;18271930;18318601;18491369;18922800;18981471;19010891;19224688;19762557;20360068;20379614;20516147;20544396;20624899;20677014;20834067;20889312;21139048;21327106;21345218;21394085;21525009;21772247;21890473;21926972;21988832;22100920;22294699;22351768;22493223;22688191;22778409;22783022;22863883;23000965;23099851;23314748;23349634;23407047;23453885;23459071;23666239;23860928;23974872;24095110;24166486;24280982;24344181;24374861;24581499;24637323;24816145;24862574;25012665;25036637;9546394 8379 C9J9H5;C9JIR0;C9JJ38;C9JKI7;C9JP81;C9JPS1;C9JTA2;C9JX80;C9K086;Q9Y6D9 ABBA01039356;ABBA01039357;ABBA01039358;ABBA01039359;ABBA01039360;ABBA01039361;ABBA01039362;AC005282;AC006433;AC069288;AC104129;AC110781;AF083811;AF123318;AK090959;AK310481;AK310831;AK314227;AMYH02015060;AMYH02015061;AMYH02015062;AMYH02015063;BC009964;BC018870;BM818088;BQ684437;BU617803;CH236953;CH471144;KF458357;KF458358;KF511002;NG_011518;NM_001013836;NM_001013837;NM_003550;U33822;XM_005249876;XM_005249877;XM_005249878;XM_006715788 AAC52059;AAD20359;AAD24498;AAH09964;AAP21876;AAS07503;ACE86492;ACE87173;BAG52253;EAL23947;EAW87219;EAW87220;NP_001013858;NP_001013859;NP_003541;Q9Y6D9;XP_005249933;XP_005249934;XP_005249935;XP_006715851 Hs.654838 1655272;1659116;1667677;1715619;1766077;2118956;2129875;2144280;2145925;2151445;2151836 A008Z42;D7S1579;GDB:4585273;NIB499;RH119252;RH17785;RH71224;SHGC-149461;SHGC-32279;SHGC-33698;SHGC-56993 HsMAD1;MAD1;PIG9;TP53I9;TXBP181;hMAD1 MAD1-like protein 1;OTTHUMP00000200097;OTTHUMP00000200098;OTTHUMP00000200099;mitotic arrest deficient 1-like protein 1;mitotic checkpoint MAD1 protein homolog;mitotic spindle assembly checkpoint protein MAD1;mitotic-arrest deficient 1, yeast, homolog-like 1;tax-binding protein 181;tumor protein p53 inducible protein 9 APPROVED protein-coding ENSG00000002822 HGNC:6762 04065 176807;602686 REVIEWED 1353487 MAFD2 major affective disorder 2 ASSOCIATED WITH Major Affective Disorder 2 (inferred) 7240710 4096 HGNC:6778 309200 732838 MADD MAP-kinase activating death domain Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 47430145 47490862 + 47290927 47351582 + 47269376 47330031 + 6480464;6484113;7240710;8554872 10756096;10825539;10970871;11577081;12410563;12421765;12477932;14695193;14702039;14716293;14735464;15007167;15103018;15208670;15489334;16273344;16344560;16682944;17314102;17410194;18029348;18223207;18794122;18849981;19060911;19289468;19913121;20081858;20185807;20237496;20419449;20484047;20571754;20628086;20936779;21044950;21103350;21139048;21873549;21887289;21906983;22482404;22529996;22581228;22678883;22952844;23443411;23457619;24038283;8988362;9115275;9205841;9482930;9796103 8567 C9J6B0;C9JLZ9;C9JM97;C9K0L0;F8W8U2;Q8WXG6 AB002356;ABBA01060720;ABBA01060721;AC018410;AC090582;AF440100;AF440101;AF440102;AF440103;AF440434;AK092919;AK093619;AK292442;AK308780;AMYH02024728;AU077339;BC040484;BE242736;CH471064;DA187733;DA759613;NG_029462;NM_001135943;NM_001135944;NM_003682;NM_130470;NM_130471;NM_130472;NM_130473;NM_130474;NM_130475;NM_130476;U44953;U48254;U77352;XM_005253188;XM_005253189;XM_005253190;XM_005253191;XM_005253192;XM_005253193;XM_005253194;XM_005253195;XM_005253196;XM_005253197;XM_005253198;XM_005253199;XM_005253200;XM_005253201;XM_005253202;XM_005253203;XM_005253204;XM_005253205;XM_005253206;XM_006718360;XM_006718361;XM_006718362;XM_006718363;XR_242830 AAB05595;AAB57735;AAD12154;AAH40484;AAL35261;AAL40265;AAL40266;AAL40267;AAL40268;BAA20814;BAF85131;EAW67930;EAW67931;EAW67932;EAW67933;EAW67934;EAW67935;EAW67936;EAW67937;EAW67938;EAW67939;EAW67940;NP_001129415;NP_001129416;NP_003673;NP_569826;NP_569827;NP_569828;NP_569829;NP_569830;NP_569831;NP_569832;Q8WXG6;XP_005253245;XP_005253246;XP_005253247;XP_005253248;XP_005253249;XP_005253250;XP_005253251;XP_005253252;XP_005253253;XP_005253254;XP_005253255;XP_005253256;XP_005253257;XP_005253258;XP_005253259;XP_005253260;XP_005253261;XP_005253262;XP_005253263;XP_006718423;XP_006718424;XP_006718425;XP_006718426 Hs.82548 1685477;1794632;1795158;2108321;2116349;2144395;2160632;5115848;7184962 NR1H3_7962;PMC33205P3;PMC99927P1;RH76662;RH79033;STS-U22662;WI-20765;ksks34 DENN;FLJ35600;FLJ36300;IG20;KIAA0358;RAB3GEP MAP kinase-activating death domain protein;OTTHUMP00000197131;OTTHUMP00000197132;OTTHUMP00000197133;OTTHUMP00000197134;OTTHUMP00000197135;OTTHUMP00000197136;OTTHUMP00000197137;OTTHUMP00000197138;OTTHUMP00000237191;OTTHUMP00000238029;Rab3 GDP/GTP exchange factor;differentially expressed in normal and neoplastic cells;insulinoma glucagonoma clone 20;insulinoma-glucagonoma protein 20 APPROVED protein-coding ENSG00000110514 HGNC:6766 04664 231680;603584 REVIEWED 5684558 MAFG-AS1 MAFG antisense RNA 1 (head to head) INTERACTS WITH (+)-catechin; 5-aza-2'-deoxycytidine; cisplatin 17 17 17 q25.3 76489745 76492669 + 79885705 79888629 + 81927829 81930753 + 6480464 12477932 92659 ABBA01019654;AC145207;AMYH02034146;BC009233;BC025326;BC038198;BC046361;BC063671;BC134411;NR_015454 Hs.336958 APPROVED ncrna ENSG00000265688 HGNC:43649 VALIDATED 2303835 MAFIP MAFF interacting protein (pseudogene) This gene was originally thought to be a protein coding gene. However, the encoded protein sequence is highly similar to the C-terminal sequence of the tektin-4 protein, and the transcript sequences of this gene are highly similar to the TEKT4 pseudogenes, which are found on chromosomes 4, 21 and Y, respectively. Therefore, this gene is thought to be another pseudogene of the TEKT4 gene (GeneID:150483). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012] 14 4 14 105 2717 - 53589 115071 - 53589 115071 - 6480464 14702039;15252450;15498874;15881666;16344560;16549056;19723544;21109981;21834855;21988832 727764 Q8TEH8;Q8WZ33 ABBA01009475;ABBA01015427;AC145212;AF289559;AK074146;AK096952;BG771232;CA419667;CK004054;DA007572;DQ786282;NR_046439;NR_046440;NR_046441;NR_046442 AAL55743;BAB84972;Q8WZ33 Hs.626311 1694758;1786990;2111288;2153135 D17S837;G27368;G43582;SHGC-147299 FLJ00219;FLJ39633;MIP;TEKT4P4;pp5644 MAFF interacting protein;maFF-interacting protein;tektin-4 like protein PP5644 APPROVED pseudo ENSG00000277400 HGNC:31102 VALIDATED 1319919 MAFF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 22 22 22 q13.1 22402653 22417221 + 38597939 38612518 + 38201932 38216511 + 1580863;6480464 10527846;10591208;11036080;11772409;12477932;12490281;14702039;15489334;16169070;16344560;16371591;16549056;19471022;19723544;20211142;20360068;21693764;21988832;23661758;23737527;24118457;24140708;8107826;8816476;8932385 23764 B0QY70;B0QY71;Q9ULX9 AB025247;ABBA01055508;ABBA01055509;AI610651;AJ010857;AK002001;AK097953;AK300932;AL021977;AMYH02038355;BC015037;BC067751;CH471095;DA209378;DA425613;DA654696;DB319587;NM_001161572;NM_001161573;NM_001161574;NM_012323 AAH15037;AAH67751;BAA86871;BAA92029;BAG62561;CAB52435;EAW60221;NP_001155044;NP_001155045;NP_001155046;NP_036455;Q9ULX9 Hs.517617 1738473;1784490;2108227;5024039 D16S325;D22S1054;MAFF__7349;SHGC-106918 U-MAF;hMafF OTTHUMP00000199298;OTTHUMP00000199300;OTTHUMP00000199301;transcription factor MafF;v-maf avian musculoaponeurotic fibrosarcoma oncogene family protein F APPROVED protein-coding ENSG00000185022 HGNC:6780 05343 604877 REVIEWED 731331 MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 16 16 16 q22-q23 63926698 63933512 - 79627745 79634622 - 79593848 79600725 - 1580863;6480464;7240710;8554872;8699517 11036080;11295643;11772997;11943779;12011435;12149651;12193719;12381733;12477932;12835653;12939343;14688382;14692531;14998484;14998494;15749884;16424013;16470690;16498264;16675956;17044113;17082780;17287852;17490615;17823980;17875642;17897790;17901057;17982426;18058096;18059226;18585411;18616618;19151714;19215682;19336002;19553542;19687312;19844255;19851340;19883431;20067416;20080955;20127678;20571754;20668459;20676092;20712903;21163924;21209279;21216956;21362551;21565293;21767287;21833088;21876034;22345400;22427637;22494929;22797727;22875803;23229156;23263486;23408906;23512105;23661758;8108109;9070273;9566892;9616139 4094 H3BP11;O75444 ABBA01017004;ABBA01017005;AC009159;AF055376;AF055377;AF055378;AF447709;AF540388;AMYH02032475;AMYH02032476;BC038438;BC081542;BE644986;BF726289;NG_016440;NM_001031804;NM_005360 AAC27037;AAC27038;AAC27039;AAH81542;AAN76723;AAO16209;NP_001026974;NP_005351;O75444 Hs.134859 1650270;1656805 RH41999;RH47061 CCA4;MGC71685;c-MAF Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene;OTTHUMP00000174965;OTTHUMP00000196745;T lymphocyte c-maf long form;c-maf proto-oncogene;proto-oncogene c-Maf;transcription factor Maf APPROVED protein-coding ENSG00000178573 HGNC:6776 01518 177075;610202 REVIEWED 732303 MAG myelin associated glycoprotein The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2010] 19 19 19 q13.1 32496476 32518142 + 35782989 35804710 + 35292086 35313807 + 1580863;6480464;8554872 11423128;11733546;12011108;12020971;12089450;12160746;12237860;12426574;12477932;12528815;12558975;12692556;1282933;12951563;14702039;15057824;15146195;15489334;15820319;16039057;17335080;17964117;17974963;18236455;18496213;18816614;18941509;19151627;19720975;19725832;21199182;21565611;21832049;22491194;23726766;24129569;2446864;2447011;2475262;2476987;2479762;2655996;6177705;7505568;7525550;8125298;8432525;9668345 4099 M0QZU4;M0R3B9;M0R3I4;P20916;Q53ES7 ABBA01018739;ABBA01018740;AC002132;AD000684;AK094545;AK222649;AK222680;AK223562;AK294644;AK308976;AMYH02035982;AMYH02035983;BC034042;BC053347;BC093045;BI755065;DC331168;M29273;NG_034078;NM_001199216;NM_002361;NM_080600;X98405 AAA59545;AAB58805;AAH53347;AAH93045;BAD96369;BAD96400;BAD97282;BAH11831;CAA67055;NP_001186145;NP_002352;NP_542167;P20916 Hs.643440 1685191;1734142;2156174;2217578 D19S609;MAG_3070;RH80561;WI-15623 GMA;S-MAG;SIGLEC-4A;SIGLEC4A myelin-associated glycoprotein;sialic acid binding Ig-like lectin 4A;sialic acid-binding immunoglobulin-like lectin 4A APPROVED protein-coding ENSG00000105695 HGNC:6783 01160 159460 REVIEWED 1348245 MAGEA1 melanoma antigen family A, 1 (directs expression of antigen MZ2-E) This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008] X X X q28 152677805 152682399 + 152481522 152486116 - 153179284 153183878 + 1580863;6480464 10363990;10854409;11691819;11776148;12443884;12477932;12525503;14672620;15059299;15316101;15342556;15353125;15489334;16114059;16189514;16344560;16497664;16516880;17007017;17208940;17611652;17634428;17704924;18094622;18197853;18330356;1840703;18505125;18820946;19259094;19467731;20348248;20368287;20420712;20423514;20592351;20862285;21042944;21139048;21273595;21364888;21906983;21987572;22134685;22447174;23000965;23472218;24911587;7627949;7823968;7927540;7927954;8037761;8039421;8050815;8113684;8302824;8575766;8647853 4100 AAB33086;P43355;Q8WX99 ABBA01023742;ABBA01023743;ABBA01023744;AC152005;AC236972;AF463515;AK314979;AMYH02040830;AY148486;BC017555;BP314195;BT009789;CA428506;CH471172;DB053667;EU161102;FB746165;M77481;NG_013243;NM_004988 AAA03229;AAB33086;AAH17555;AAL69948;AAN62752;AAP88791;ABM82075;ABM85255;ABW06861;BAG37478;CAT04602;EAW72885;NP_004979;P43355 Hs.72879 1852251 G29877 CT1.1;MAGE1;MGC9326 MAGE-1 antigen;OTTHUMP00000025911;antigen MZ2-E;cancer/testis antigen 1.1;cancer/testis antigen family 1, member 1;melanoma antigen MAGE-1;melanoma antigen family A 1;melanoma-associated antigen 1;melanoma-associated antigen MZ2-E APPROVED protein-coding ENSG00000198681 HGNC:6796 02059 300016 REVIEWED 1352065 MAGEA12 melanoma antigen family A, 12 This gene is closely related to several other genes clustered on chromosome X. These genes may be overexpressed in tumors. Multiple alternatively spliced variants encoding the same protein have been identified. [provided by RefSeq, Jun 2014] X X X q28 152144103 152147994 - 151899293 151903184 - 152733779 152737669 + 6480464;8554872 10820289;10854409;10890380;11750719;12077290;12477932;12673681;15489334;16189514;16687489;17634428;18057533;18197853;21139048;21963094;21987572;22707303;23000965;23090077;23574628;23950870;7927540;8037761;8575766;8889548 4111 P43365;Q6FHH8 ABBA01043701;AC244102;AF002997;AK314168;BC003408;BC098146;BQ436888;BT007108;CF123053;CH471169;CR541775;L18877;NG_013228;NG_015852;NM_001166386;NM_001166387;NM_005367 AAA19023;AAH03408;AAP35772;ABM81927;ABM85104;BAG36852;CAG46574;EAW99432;NP_001159858;NP_001159859;NP_005358;P43365 Hs.169246 1744951;5125115;5125117 GDB:581738;SHGC-35594;SHGC-35597 CT1.12;MAGE12 MAGE-12 antigen;MAGE12F antigen;OTTHUMP00000024231;cancer/testis antigen 1.12;cancer/testis antigen family 1, member 12;melanoma-associated antigen 12 APPROVED protein-coding ENSG00000213401 HGNC:6799 02169 300177 REVIEWED 1345818 MAGEA10 melanoma antigen family A, 10 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream melanoma antigen family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011] X X X q28 151548374 151552508 - 151301782 151307050 - 152133310 152138578 - 6480464;8554872 10446460;12477932;15355897;15489334;16344560;16712791;17039243;17650306;18237105;18322177;21139048;21710496;21906983;22116775;23000965;7927540;8575766 4109 B2RAE8;C9J958;C9J9A2;J3KT71;J3QRD7;P43363 ABBA01037289;ABBA01037290;AC116666;AK314161;AMYH02040786;AMYH02040787;AX026469;AX026473;AY522506;AY531264;BC004105;BQ026281;CB158974;CB959556;CH471169;DA827990;NM_001011543;NM_001251828;NM_021048;U10685 AAA68869;AAH04105;ABM83957;ABM87274;BAG36845;CAC09073;CAC09076;EAW99421;EAW99422;NP_001011543;NP_001238757;NP_066386;P43363 Hs.18048 1744947;5037552 D8S2279;GDB:581731 CT1.10;MAGE10;MGC10599 MAGE-10 antigen;OTTHUMP00000025894;OTTHUMP00000025895;OTTHUMP00000025896;cancer/testis antigen 1.10;cancer/testis antigen family 1, member 10;melanoma-associated antigen 10 APPROVED protein-coding ENSG00000124260 HGNC:6797 02280 300343 REVIEWED 1352039 MAFG v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DNA-binding activity consists of a heterodimer containing a ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM 600197) and the tissue-restricted protein p45 NFE2 (MIM 601490). Both subunits are members of the activator protein-1-like superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160).[supplied by OMIM, Mar 2010] 17 17 17 q25.3 76480214 76489629 - 79876145 79885587 - 81918269 81927711 - 1580863;6480464 11013233;11036080;11154691;11875518;12149651;12477932;12496124;15489334;16169070;16716189;16751776;17928287;18538669;19011633;19471022;20211142;20360068;20689807;21555518;21693764;21890473;21987572;21988832;22321011;22505724;22855609;22939624;22942279;23000965;23661758;23737527;24118457;24140708;24250222;8816476;8889548;8932385;9150357;9166829;9195958;9286713;9421508;9763667 4097 I3L2F8;O15525 AA775797;ABBA01019653;ABBA01019654;AC145207;AF059195;AK130699;AL520760;AMYH02034144;AMYH02034145;AMYH02034146;BC006143;BC012327;BC103722;BE258646;BE264273;BF976800;BI763651;BM721518;BQ212603;BU195720;CH471099;DQ591919;DR156847;NM_002359;NM_032711;U84249;XM_006722282;Y11514 AAC14427;AAC51737;AAH12327;ABM81635;CAA72284;EAW89712;EAW89715;NP_002350;NP_116100;O15525;XP_006722345 Hs.252229;Hs.744113 1734504;2108229;2116301;2185079 D17S1450E;D17S2144;MAFG__7350;RH78412 MGC13090;MGC20149;hMAF basic leucine zipper transcription factor MafG;transcription factor MafG APPROVED protein-coding ENSG00000197063 HGNC:6781 03605 602020 VALIDATED 1350091 MAFK v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008] 7 7 7 p22.3 1537624 1549935 + 1570368 1582679 + 1530732 1543043 + 1580863;6480464 10037736;10747902;11013233;11036080;12477932;12690205;12805554;12853948;14702039;17083329;18241676;18538669;19011633;19471022;20360068;21693764;21890473;21987572;21988832;22505724;22855609;23000965;23737527;24140708;24232097;8355703;8816476;8887638;9150357;9763667;9878398 7975 O60675 ABBA01039346;AC093734;AF059194;AK056767;AK092414;AL831913;AMYH02015056;BC012777;BC094871;BC143040;BC143041;BC148194;BC148265;BC152387;CH236953;CH471144;NM_002360;XM_005249851;XM_006715773 AAC14426;AAI48266;AAI52388;AAP21866;BAG52549;CAD38575;EAL23943;EAW87207;EAW87208;NP_002351;O60675;XP_005249908;XP_006715836 Hs.520612 1769953;2175837 A007E29;RH78695 FLJ32205;MGC71717;NFE2U;P18 OTTHUMP00000200037;OTTHUMP00000200038;OTTHUMP00000200039;basic-leucine zipper transcription factor MafK;erythroid transcription factor NF-E2 p18 subunit;nuclear factor erythroid-2, ubiquitous (p18);transcription factor MafK;v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein K;v-maf musculoaponeurotic fibrosarcoma oncogene homolog K APPROVED protein-coding ENSG00000198517 HGNC:6782 02561 600197 VALIDATED 1353296 MAGEA3 melanoma antigen family A, 3 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008] X X X q28 152112403 152115991 + 151934652 151938250 - 152698742 152702347 + 6480464;8554872 10854409;11691819;12393675;12477932;12710945;14672620;15489334;15885805;16114059;16446550;16516880;16806467;17007017;17495964;17634428;17699848;18181974;18197853;18237105;18316621;18330356;18381936;1840703;18483279;18505125;18829569;18976975;18982744;19261683;19326132;19471022;19795170;20015885;20036422;20423514;20591578;20864041;21135695;21264495;21273595;21277283;21347689;21452042;21556122;21565982;21804405;21876767;21906983;21963094;21987572;22134685;22183072;22323448;22498264;22925930;23728352;24675493;7591235;7757970;7927540;8037761;8113684;8125298;8575766;9044853;9700202 4102 E7EMU0;P43357 ABBA01043699;ABBA01043700;AC244102;AF002997;AK223519;AK292384;BC000340;BC005963;BC011744;BC016803;BC017389;CR541767;CR541768;CR541774;CR542020;NG_013244;NM_005362;U03735;XM_005274676;XM_006724818 AAA17446;AAH00340;AAH05963;AAH11744;AAH16803;AAH17389;ABM82776;ABM85966;BAD97239;BAF85073;CAG46566;CAG46567;CAG46573;CAG46817;NP_005353;P43357;XP_005274733;XP_006724881 Hs.417816 1744933;2109489;5125115;5125117 GDB:581707;MAGEA3_8451;SHGC-35594;SHGC-35597 CT1.3;HIP8;HYPD;MAGE3;MAGEA6;MGC14613 MAGE-3 antigen;OTTHUMP00000024220;OTTHUMP00000024221;antigen MZ2-D;cancer/testis antigen 1.3;cancer/testis antigen family 1, member 3;melanoma-associated antigen 3 APPROVED protein-coding ENSG00000221867 HGNC:6801 02166 300174 REVIEWED 2925270 MAGEA13P melanoma antigen family A, 13 pseudogene INTERACTS WITH benzo[a]pyrene (ortholog) X X X q26.3 137930826 137932422 + 137564847 137566443 + 138482689 138484285 + 6480464 139363 A6NCF6 ABBA01065945;AL357692;AMYH02040602;CH471150;NG_022882;Z81311 A6NCF6;EAW88445 pseudo HGNC:35154 INFERRED 1353714 MAGEA4 melanoma antigen family A, 4 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. At least four variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] X X X q28 151329673 151339236 + 151080972 151093642 + 151912889 151925170 + 6480464 11502003;11985796;12209610;12209997;12477932;12525503;12759544;14739298;15489334;16061876;16114059;16189514;16596224;16651421;16712791;17207965;17214847;18197853;18982744;19533752;19545928;20591578;20715104;20862285;21044950;21139048;21264495;21452042;21556122;21613820;21815906;21832049;21906983;22134685;22323448;22653756;22842486;23000965;23124547;23172894;24238058;24722188;7591235;7642112;7927540;8037761;8575766;9119398 4103 C9J9C2;C9JIR1;C9JK50;C9JZJ5;P43358 ABBA01037266;ABBA01037267;ABBA01037268;AF274855;AK300179;AK313862;AMYH02040783;AY954624;BC017723;BC096712;BM548926;BM562570;BX479311;CB120212;CH471169;D32075;D32077;NG_013245;NM_001011548;NM_001011549;NM_001011550;NM_002362;U10340;U10687;U10688;XM_005274677;XM_005274678;XM_005274679 AAA19007;AAA68871;AAA68872;AAH17723;AAH96712;AAY27261;ABM82611;ADQ32337;BAA06841;BAA06843;BAG36590;BAG61958;EAW99410;EAW99411;EAW99412;EAW99413;NP_001011548;NP_001011549;NP_001011550;NP_002353;P43358;XP_005274734;XP_005274735;XP_005274736 Hs.37107 1744935;1795180;2110499;2181857 GDB:581711;HSC273_(Tri381);MAGEA4_8452;SGC35636 CT1.4;MAGE-41;MAGE-X2;MAGE4;MAGE4A;MAGE4B;MGC21336 MAGE-4 antigen;MAGE-41 antigen;MAGE-X2 antigen;OTTHUMP00000025881;OTTHUMP00000025882;OTTHUMP00000025883;OTTHUMP00000025884;OTTHUMP00000025885;OTTHUMP00000025886;OTTHUMP00000025887;OTTHUMP00000025889;OTTHUMP00000025890;OTTHUMP00000025891;cancer/testis antigen 1.4;cancer/testis antigen family 1, member 4;melanoma-associated antigen 4 APPROVED protein-coding ENSG00000147381 HGNC:6802 02167 300175 REVIEWED 1606582 MAGEA2 melanoma antigen family A, 2 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] X X X q28 152128271 152132247 + 151918387 151922408 - 152749863 152753884 - 6480464 10854409;11337467;12477932;12525503;15489334;16341674;16847267;17634428;18197853;1840703;20864041;21422315;21906983;21963094;22117195;22134685;7591235;7927540;8113684;8276455;8416750;8575766 4101 P43356;Q6P448 AC244102;AF002997;AK290443;AU100045;BC013098;BC063681;BC108720;BC109188;BC112158;BC112160;BG575302;BM781931;BX282627;CA429655;CH471169;DR158683;L18920;NM_001282501;NM_001282502;NM_001282504;NM_001282505;NM_005361;NM_175742;NM_175743;U82671 AAA17729;AAH13098;AAH63681;AAI08721;AAI09189;AAI12159;AAI12161;AAI46450;BAF83132;EAW99429;EAW99430;EAW99431;NP_001269430;NP_001269431;NP_001269433;NP_001269434;NP_005352;NP_786884;NP_786885;P43356 Hs.534597;Hs.713061;Hs.736992 1687958;2110497;2182344;5493371 G29880;MAGEA2__7353;RH80789;UniSTS:485861 CT1.2;MAGE2;MAGEA2A;MAGEA2B;MGC131923 MAGE-2 antigen;OTTHUMP00000024219;cancer/testis antigen 1.2;cancer/testis antigen family 1, member 2;melanoma antigen 2;melanoma-associated antigen 2 APPROVED protein-coding ENSG00000268606 HGNC:6800 02165 300173 REVIEWED 1349621 MAGEA2B melanoma antigen family A, 2B This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. [provided by RefSeq, Jul 2008] X X X q28 152130536 152132232 + 151885384 151887080 + 152714586 152718607 + 6480464 10854409;12477932;15489334;16847267;1840703;20864041;21963094;21987572;24722188;7927540;8113684;8276455;8575766 266740 B9A060;E7ENJ0;E7EP80;E7EQY6;E7ER35;E9PC03;P43356;Q96E03 ABBA01043700;AC244102;AF002997;AK290443;BC013098;BC063681;BC108720;BC109188;BC112158;BC112160;NM_153488;U82671;XM_005277836;XM_005277838;XM_005277839;XM_006724814 AAH13098;AAH63681;AAI08721;AAI09189;AAI12159;AAI12161;ABM82609;ABM85794;BAF83132;NP_705692;P43356;XP_005277893;XP_005277895;XP_005277896;XP_006724877 Hs.534597;Hs.713061 1687958;2110497;2182344;5493371 G29880;MAGEA2__7353;RH80789;UniSTS:485861 CT1.2;MAGE2;MAGEA2;MGC16973 MAGE-2 antigen;OTTHUMP00000024226;OTTHUMP00000205534;OTTHUMP00000205535;OTTHUMP00000205536;OTTHUMP00000205537;OTTHUMP00000205539;OTTHUMP00000205540;cancer/testis antigen 1.2;melanoma antigen 2;melanoma antigen, family A, 2, copy b;melanoma-associated antigen 2 APPROVED protein-coding ENSG00000183305 HGNC:19340 14347 300549 REVIEWED 7243079 MAGEA8-AS1 MAGEA8 antisense RNA 1 (head to head) X X q28 149007563 149025779 - 149878763 149897006 - 16344560;23223008 101410537 ABBA01027318;ABBA01027319;ABBA01027320;ABBA01027321;AC016941;AC244099;CB961226;DA302815;DA783364;HG512749;NR_102703 Hs.573643 ncrna HGNC:45093 VALIDATED 1348686 MAGEA7P melanoma antigen family A, 7, pseudogene X X X q28 149221331 149221608 + 148890201 148890478 + 149808539 149808816 + 7927540;8575766 4106 ABBA01027305;AC016939;AC232272;AC244098;NG_001156;U10692 1744941 GDB:581722 MAGE7;MAGEA7 APPROVED pseudo HGNC:6805 INFERRED 1348802 MAGEA8 melanoma antigen family A, 8 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2009] X X X q28 149293931 149298625 + 149009941 149014609 + 149881141 149885835 + 6480464 10521804;12477932;21139048;21987572;23000965;24722188;7927540;8575766;8889549 4107 B2R9W4;P43361 AA045817;ABBA01027319;AC016941;AC244099;AK313943;BC002455;BC012744;BC098120;BI092675;BT007340;CH471169;NG_015868;NM_001166400;NM_001166401;NM_005364;U10693 AAA68876;AAH02455;AAH12744;AAP36004;BAG36661;EAW99373;NP_001159872;NP_001159873;NP_005355;P43361 Hs.522803 1744943;2110501;5015341 GDB:581725;MAGEA8_8453;SGC35637 CT1.8;MAGE8;MGC2182 MAGE-8 antigen;OTTHUMP00000024218;cancer/testis antigen 1.8;cancer/testis antigen family 1, member 8;melanoma-associated antigen 8 APPROVED protein-coding ENSG00000156009 HGNC:6806 02278 300341 REVIEWED 1349031 MAGEA11 melanoma antigen family A, 11 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q28 149067183 149096209 + 148769903 148798928 + 149688237 149717268 + 1580863;6480464;8554872 10521804;12477932;14702039;15489334;15684378;16189514;17081983;18029348;18048459;18212060;19147576;19372581;19828458;20448036;21139048;21730049;22334658;22891251;23064813;23172223;23839233;23853093;24316396;24722188;7927540;8575766;9495246 4110 C9J2X2;G5E962;P43364 ABBA01027296;ABBA01027297;ABBA01027298;ABBA01027299;ABBA01027300;AC016939;AC139014;AC231844;AC232272;AC244098;AC244197;AI691089;AK127849;AY747607;BC004479;BQ212898;BX337921;CH471169;NG_012803;NM_001011544;NM_005366;U10686 AAA68870;AAH04479;AAW71787;BAC87161;EAW99364;EAW99365;EAW99366;NP_001011544;NP_005357;P43364 Hs.670252 1744949;1775339 GDB:581735;SGC35635 CT1.11;MAGE-11;MAGE11;MAGEA-11;MGC10511 MAGE-11 antigen;OTTHUMP00000024217;OTTHUMP00000082460;cancer/testis antigen 1.11;cancer/testis antigen family 1, member 11;melanoma-associated antigen 11 APPROVED protein-coding ENSG00000185247 HGNC:6798 02281 300344 REVIEWED 1603231 MAGEA6 melanoma antigen family A, 6 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X q28 152112418 152115980 + 151867245 151870814 + 152766147 152769716 - 6480464 12208877;12477932;12631591;15489334;16341674;17353931;18197853;18976975;20864041;21139048;21906983;21963094;21987572;22134685;22707303;23000965;7642112;7927540;8037761;8575766 4105 E7ETG4;E7EUF2;P43360 AC244102;AF002997;AK289437;BC041599;BC067731;BM843807;BX640600;D32076;EU161101;NM_005363;NM_175868;U10339;U10691 AAA19006;AAA68875;AAH41599;AAH67731;ABW06860;BAA06842;BAF82126;CAE45706;NP_005354;NP_787064;P43360 Hs.441113 1744939;2109489;5125115;5125117 GDB:581719;MAGEA3_8451;SHGC-35594;SHGC-35597 CT1.6;MAGE-3b;MAGE3B;MAGE6;MGC52297 MAGE-6 antigen;MAGE3B antigen;OTTHUMP00000024223;OTTHUMP00000024224;OTTHUMP00000205538;cancer/testis antigen 1.6;cancer/testis antigen family 1, member 6;melanoma-associated antigen 6 APPROVED protein-coding ENSG00000197172 HGNC:6804 02168 300176 REVIEWED 1642211 MAGEA9B melanoma antigen family A, 9B MAGEA9B is a duplication of the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about 194 kb (Hartz, 2009).[supplied by OMIM, Mar 2009] X X X q28 149194719 149200530 + 148663309 148669125 - 149581653 149587468 - 6480464 12477932;14702039;15489334;16344560;7927540;8575766;9147653 728269 P43362 ABBA01049646;AC016940;AC233288;AC244197;AK292272;AK313321;AY310325;BC002351;BC098100;DB015621;NM_001080790;XM_005278192;XM_005278193;XM_005278194 AAH02351;AAP82171;BAF84961;BAG36126;NP_001074259;P43362;XP_005278249;XP_005278250;XP_005278251 Hs.460974 1744945;2108231;2166578;5015341 GDB:581728;MAGEA9_8454;SGC35637;SHGC-35638 CT1.9;MAGEA9 MAGE-9 antigen;OTTHUMP00000216441;cancer/testis antigen 1.9;melanoma antigen family A, 9 -like;melanoma-associated antigen 9 APPROVED protein-coding ENSG00000267978 HGNC:31909 300764 VALIDATED 1606155 MAGEB10 melanoma antigen family B, 10 This gene encodes a member of the B subfamily of the melanoma associated antigen protein family. The encoded protein is specifically expressed in testis and tumor cells. [provided by RefSeq, Apr 2010] X X X p21.3 31954589 31969417 + 27826107 27841131 + 27807990 27823014 + 6480464 11454705;12477932;14702039;15489334;21139048;21906983;23000965 139422 Q96LZ2 ABBA01072674;ABBA01072675;ABBA01072676;AC107613;AC112492;AF333708;AK057527;AMYH02039076;BC101307;BC101308;BC101309;BC101310;CH471074;HC044787;NG_017094;NM_182506 AAI01308;AAI01309;AAI01310;AAI01311;AAK00360;BAB71522;CBH30723;EAW99040;NP_872312;Q96LZ2 Hs.447363 1702058;1757627;2156425;5037552 D8S2279;DXS1094;RH48603;SHGC-145528 FLJ32965;MGC120394 MAGE family testis and tumor-specific protein;MAGE-B10 antigen;OTTHUMP00000043236;melanoma-associated antigen B10 APPROVED protein-coding ENSG00000177689 HGNC:25377 06554 300761 REVIEWED 1353190 MAGEB16 melanoma antigen family B, 16 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cadmium atom; diuron (ortholog) X X X p21.1 39944075 39949468 + 35816459 35821852 + 35798342 35803735 + 6480464;8554872 11454705;15772651 139604 A2A368 ABBA01073510;AL161722;AMYH02039164;NM_001099921 A2A368;NP_001093391 Hs.700562 1787410 SHGC-78982 MAGE-B16 antigen;OTTHUMP00000159283;OTTHUMP00000159284;OTTHUMP00000159285;melanoma antigen family B, 16 (pseudogene);melanoma-associated antigen B16 protein-coding ENSG00000189023 HGNC:21188 300762 VALIDATED 2301779 MAGEB17 melanoma antigen family B, 17 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH bisphenol A (ortholog); lead diacetate (ortholog) X X X p22.2 20302062 20307798 + 16185604 16189516 + 16167481 16171393 + 6480464;8554872 11454705;15772651 645864 A8MXT2 ABBA01071388;ABBA01071389;AC078993;AMYH02038920;CH471074;DV080535;NM_001277307 A8MXT2;EAW98911;NP_001264236 Hs.632792 OTTHUMP00000159267;melanoma antigen family B, 17 (pseudogene);melanoma-associated antigen B17 protein-coding ENSG00000182798 HGNC:17418 300763 VALIDATED 1605545 MAGEB18 melanoma antigen family B, 18 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH cadmium atom; 17alpha-ethynylestradiol (ortholog); mono(2-ethylhexyl) phthalate (ortholog) X X X p21.3 30283735 30286128 + 26156460 26158853 + 26138343 26140736 + 6480464;8554872 12477932;14702039;15489334;16189514;16713569;19060904;20864041;20932654;23275563 286514 Q96M61 ABBA01072501;AC129850;AK057361;AMYH02039063;BC029525;CH471074;HC044853;NG_016370;NM_173699 AAH29525;BAB71450;CBH30756;EAW99033;NP_775970;Q96M61 Hs.350683 MGC33889 MAGE-B18 antigen;OTTHUMP00000023091;melanoma-associated antigen B18 protein-coding ENSG00000176774 HGNC:28515 06647 VALIDATED 1343521 MAGEA5 melanoma antigen family A, 5 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This MAGEA gene encodes a protein that is C-terminally truncated compared to other family members, and this gene can be alternatively interpreted to be a pseudogene. The protein is represented in this Gene record in accordance with the assumed protein-coding status defined in the literature. Read-through transcription exists between this gene and the upstream melanoma antigen family A, 10 (MAGEA10) gene. [provided by RefSeq, Oct 2011] X X X q28 151528019 151531937 - 151282521 151286411 - 152114049 152117939 - 6480464;8554872 10521804;12477932;15489334;18197853;22134685;7927540;8575766 4104 P43359 ABBA01037286;AF274856;AI200443;AMYH02040786;AY310324;BC109187;CH471169;NG_016417;NM_021049;U10689;U10690 AAA68873;AAA68874;AAI09188;EAW99420;NP_066387;P43359 Hs.18048;Hs.668021 1744937;2124727 DXS7493;GDB:581715 CT1.5;MAGE5;MAGEA4;MGC129526 MAGE-5 antigen;MAGE-5a antigen;MAGE-5b antigen;OTTHUMP00000217952;cancer/testis antigen 1.5;cancer/testis antigen family 1, member 5;melanoma-associated antigen 5 APPROVED protein-coding ENSG00000242520 HGNC:6803 02277 300340 REVIEWED 1353042 MAGEB3 melanoma antigen family B, 3 This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of tumor antigens recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters of MAGE genes on chromosome X. The members of the MAGE-A subfamily are located in the Xq28 region, while the members of the MAGE-B subfamily are clustered in the Xp21 region. [provided by RefSeq, Jul 2008] X X X p21.3 34370173 34377229 + 30248553 30255612 + 30230436 30237493 + 6480464;8554872 10861452;12477932;14702039;15489334;15772651;17207965;9441743 4114 O15480 AA934059;ABBA01072921;AC005185;AK057441;AMYH02039107;AMYH02039108;AMYH02039109;BC069784;BC074756;BC126320;BC126322;HC044729;NG_015869;NM_002365;U93163;XM_005274510 AAC23618;AAD10636;AAH69784;AAH74756;AAI26321;AAI26323;ADQ31977;ADR82935;BAG51914;CBH30694;NP_002356;O15480;XP_005274567 Hs.113290 1703084;5492657;5493709 DXS1098;UniSTS:481898;UniSTS:490448 CT3.5 MAGE-B3 antigen;OTTHUMP00000023099;cancer/testis antigen family 3, member 5;melanoma-associated antigen B3 APPROVED protein-coding ENSG00000198798 HGNC:6810 02149 300152 REVIEWED 1346783 MAGEB4 melanoma antigen family B, 4 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEB genes are clustered on chromosome Xp22-p21. This gene sequence ends in the first intron of MAGEB1, another family member. This gene is expressed in testis. [provided by RefSeq, Jul 2008] X X X p21.3 34381677 34383930 + 30260057 30262310 + 30241940 30244193 + 6480464;8554872 12477932;15489334;15772651;16189514;16344560;21139048;21906983;23000965;9441743 4115 O15481 ABBA01072922;AC005185;AK313769;AMYH02039109;BC032852;CH471074;CR541779;DB056993;NG_015870;NG_016336;NM_002367;U93163 AAC23619;AAD10637;AAH32852;ABM82162;ABM85347;BAG36507;CAG46578;EAW99050;NP_002358;O15481 Hs.113291 2107305 MAGEB4__7357 CT3.6;MGC33144 MAGE-B4 antigen;OTTHUMP00000023100;cancer/testis antigen family 3, member 6;melanoma-associated antigen B4 APPROVED protein-coding ENSG00000120289 HGNC:6811 02150 300153 REVIEWED 1344901 MAGEA9 melanoma antigen family A, 9 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008] X X X q28 149194726 149200530 + 148863584 148869399 + 149781921 149787739 + 6480464 10521804;12477932;15489334;15900605;19147576;19460752;19533752;21139048;21906983;21987572;23000965;24316396;7927540;8575766;9147653 4108 P43362 AC016939;AC232272;AC244098;AK292272;AK313321;AY310325;BC002351;BC098100;CH471169;NM_005365;U10694;U66083;XM_005262334;XM_005262335;XM_005262336 AAA68877;AAB67888;AAH02351;AAI56348;AAI57102;AAP82171;ABM82347;ABM85521;BAF84961;BAG36126;EAW99372;NP_005356;P43362;XP_005262391;XP_005262392;XP_005262393 Hs.460974;Hs.512582 1744945;2108231;2166578;5015341 GDB:581728;MAGEA9_8454;SGC35637;SHGC-35638 CT1.9;MAGE9;MAGEA9B;MGC8421 MAGE-9 antigen;OTTHUMP00000226030;OTTHUMP00000226031;OTTHUMP00000226032;OTTHUMP00000226034;cancer/testis antigen 1.9;cancer/testis antigen family 1, member 9;melanoma-associated antigen 9 APPROVED protein-coding ENSG00000123584 HGNC:6807 02279 300342 REVIEWED 1351406 MAGEB1 melanoma antigen family B, 1 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region, and expressed in testis and in a significant fraction of tumors of various histological types. This gene and other MAGEB members are clustered on chromosome Xp22-p21. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] X X X p21.3 34383468 34391775 + 30261848 30270155 + 30243731 30252038 + 6480464;8554872 12018852;12477932;15489334;15772651;16344560;18029348;19953087;21139048;21364888;21906983;23000965;23602568;7761436;8535061;9441743 4112 P43366;Q96TG1 ABBA01072922;AC005185;AK314977;AMYH02039109;BC013772;BU166425;CH471074;CR541762;DB022312;NG_016336;NM_002363;NM_177404;NM_177415;S80936;U93163;X82539 AAC23616;AAC97145;AAD10634;AAH13772;ABM81611;ABM84793;BAG37476;CAA57889;CAG46562;EAW99049;NP_002354;NP_796379;NP_803134;P43366 Hs.73021 1681518;1702206;2107305;2110503;7184041 DXS1020;MAGEB1__7355;MAGEB4__7357;RH80239 CT3.1;DAM10;MAGE-Xp;MAGEL1;MGC9322 DSS-AHC critical interval MAGE superfamily 10;DSS/AHC critical interval MAGE superfamily 10;MAGE-B1 antigen;MAGE-XP antigen;OTTHUMP00000023101;cancer/testis antigen 3.1;cancer/testis antigen family 3, member 1;melanoma-associated antigen B1 APPROVED protein-coding ENSG00000214107 HGNC:6808 02108 300097 REVIEWED 1351509 MAGEB6P1 melanoma antigen family B, 6 pseudogene 1 X X X p21.3 30306156 30307965 + 26178643 26180530 + 26160526 26162413 + 392433 ABBA01072504;AC129850;AMYH02039063;NG_008389 MAGEB6B APPROVED pseudo HGNC:28824 INFERRED 1350701 MAGEB2 melanoma antigen family B, 2 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008] X X X p21.3 34355297 34359830 + 30233675 30238206 + 30215558 30220089 + 6480464 12018852;12477932;15489334;15772651;17012225;17207965;17353931;17361185;20864041;21139048;21906983;21907836;23000965;23029077;23275563;23455924;8125298;8535061;9441743;9538511 4113 AAB50665;O15479;Q53G50 ABBA01072920;ABBA01072921;AC005185;AF015766;AK223081;AK313347;AMYH02039107;BC026071;CH471074;NG_013246;NM_002364;U93163 AAB50665;AAC23617;AAD01565;AAD10635;AAH26071;ABW03680;ADQ31880;BAD96801;BAG36150;EAW99047;NP_002355;O15479 Hs.113824 1787266;2108233;7184041 DXS1020;MAGEB2_8457;SHGC-144093 CT3.2;DAM6;MAGE-XP-2;MGC26438 DSS-AHC critical interval MAGE superfamily 6;DSS/AHC critical interval MAGE superfamily 6;MAGE XP-2 antigen;MAGE-B2 antigen;OTTHUMP00000023098;cancer/testis antigen 3.2;cancer/testis antigen family 3, member 2;melanoma-associated antigen B2 APPROVED protein-coding ENSG00000099399 HGNC:6809 02109 300098 REVIEWED 1347095 MAGEC1 melanoma antigen family C, 1 This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number of unique short repetitive sequences in front of the MAGE-homologous sequence, and therefore is about 800 aa longer than the other MAGE proteins. [provided by RefSeq, Jul 2008] X X X q26 141279438 141284773 + 140991642 140997187 + 141903856 141909401 + 6480464;8554872 11872084;12115486;12477932;15772651;16344560;17137291;17607369;18029348;18237105;20015885;20108890;20621094;20696919;20862285;21738656;21810217;21822266;21906983;22110734;23000965;23180015;23529156;23667531;23923079;9485030;9618514 9947 O60732 ABBA01066226;AF056334;AF064589;AL022152;AL023279;AMYH02040673;BC025969;BC127771;BC153867;BQ772869;CH471170;DB065460;NG_015871;NM_005462;XM_003846772 AAC18837;AAC24227;AAI27772;EAW78010;NP_005453;O60732;XP_003846820 Hs.132194 1796272;2110505 MAGEC1_1817;MAGEC3__7360 CT7;CT7.1;MAGE-C1;MGC39366 MAGE-C1 antigen;OTTHUMP00000024183;cancer/testis antigen 7.1;cancer/testis antigen family 7, member 1;melanoma-associated antigen C1 APPROVED protein-coding ENSG00000155495 HGNC:6812 02201 300223 REVIEWED 1603580 MAGEC3 melanoma antigen family C, 3 This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal tissues, except for testis, and are expressed in tumors of various histological types. The MAGEC genes are clustered on chromosome Xq26-q27. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q27.2 141213897 141273414 + 140926102 140985618 + 141838316 141897832 + 6480464;8554872 10861452;12477932;15772651 139081 Q3SYA6;Q8TD91 ABBA01066217;ABBA01066218;ABBA01066219;ABBA01066220;ABBA01066221;ABBA01066222;ABBA01066223;AF333706;AF333707;AF490508;AL022152;AL023279;AL049177;AMYH02040672;AMYH02040673;BC103893;BC103894;CH471170;NG_013272;NM_138702;NM_177456;XM_005262366 AAI03894;AAI03895;AAK00358;AAK00359;AAM08355;EAW78008;EAW78009;NP_619647;NP_803251;Q8TD91;XP_005262423 Hs.356870 1788000;2110505;5493095 G67199;MAGEC3__7360;UniSTS:484189 CT7.2;HCA2;MAGE-C3;MAGEC4;MGC119270;MGC119271 MAGE family testis and tumor-specific protein;MAGE-C3 antigen;OTTHUMP00000024185;OTTHUMP00000204090;cancer/testis antigen 7.2;cancer/testis antigen family 7, member 2;hepatocellular carcinoma-associated antigen 2;hepatocellular carcinoma-associated protein HCA2;melanoma-associated antigen C3 APPROVED protein-coding ENSG00000165509 HGNC:23798 06629 300469 REVIEWED 1348631 MAGEB6 melanoma antigen family B, 6 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is expressed in testis, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008] X X X p21.3 30337984 30341189 + 26210557 26213763 + 26192440 26195646 + 6480464 10861452;12477932;14702039;15489334;17207965;23275563 158809 Q8N7X4 ABBA01072508;AC005297;AF320514;AK097561;AMYH02039063;BC067286;BC074920;CH471074;HC044777;NG_013247;NM_173523 AAG48624;AAH67286;AAH74920;ADQ31954;BAC05102;CBH30718;EAW99034;NP_775794;Q8N7X4 Hs.376011 5492745 UniSTS:482173 CT3.4;FLJ40242;MAGE-B6;MAGEB6A MAGE-B6 antigen;OTTHUMP00000023093;cancer/testis antigen 3.4;cancer/testis antigen family 3, member 4;melanoma-associated antigen B6 APPROVED protein-coding ENSG00000176746 HGNC:23796 06628 300467 REVIEWED 1604588 MAGED4 melanoma antigen family D, 4 INTERACTS WITH 17beta-estradiol; ciglitazone; diazinon X X X p11.22 55916032 55923388 + 51927919 51935364 + 52184823 52192268 + 6480464 11181995;11406556;11602350;12477932;16196087;16225959;22505724;22544753;22797925;24250222 728239 Q96JG8 AB040527;AB040528;AB040529;AB058762;ABBA01059939;AC245177;AF320908;AF329733;AK094541;AK098830;AK289458;AK308365;AL136582;AL928717;AMYH02039383;BC001207;BC063838;BC081566;CH471230;NM_001098800;NM_001272061;NM_001272062;NM_001272063;XM_005276713;XM_006726845 AAG38604;AAH01207;AAH63838;AAH81566;AAL50032;BAB33378;BAB33379;BAB33380;BAB47488;BAF82147;CAB66517;EAW62886;EAW62887;EAW62889;EAW62890;EAW62891;EAW62892;EAW62893;NP_001092270;NP_001258990;NP_001258991;NP_001258992;Q96JG8;XP_005276770;XP_006726908 Hs.522650;Hs.571729;Hs.733143 1853335 WI-15363 FLJ39060;KIAA1859;MAGE-E1;MAGE1;MAGED4B;MAGEE1;MGC3210 MAGE-D4 antigen;MAGE-E1 antigen;OTTHUMP00000039224;melanoma-associated antigen D4 protein-coding ENSG00000154545 HGNC:23793 300702 VALIDATED 1351080 MAGEC2 melanoma antigen family C, 2 This gene is a member of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the other MAGEC genes are clustered on chromosome Xq26-q27. [provided by RefSeq, Oct 2009] X X X q27 141577705 141580653 - 141290128 141293076 - 142202342 142205290 - 1580863;6480464 10699956;10861452;11406556;11602350;12097419;12477932;12920247;14999777;15061963;15342556;15489334;15772651;17096150;17495964;18942708;19380743;20621094;20862285;20864041;21277283;21364888;21595801;21738656;21754986;21780320;21876767;22808956;22925930;23096706;23180015;23667531;24866244 51438 Q6IAI7;Q9UBF1 ABBA01066252;ABBA01066253;AF116194;AF116195;AF151378;AF196482;AF196483;AF239802;AK313591;AL031073;AMYH02040678;BC005891;BC013318;BM548987;BP370466;CH471170;CR457168;NG_015872;NM_016249 AAF07210;AAF07211;AAF34816;AAF34817;AAF36533;AAH05891;AAH13318;AAK15073;ABM83868;ABM87190;BAG36358;CAG33449;EAW78014;EAW78015;EAW78016;NP_057333;Q9UBF1 Hs.123536 1675591 RH99306 CT10;HCA587;MAGEE1;MGC13377 MAGE-C2 antigen;MAGE-E1 antigen;OTTHUMP00000024186;cancer/testis antigen 10;hepatocellular cancer antigen 587;hepatocellular carcinoma-associated antigen 587;melanoma antigen, family E, 1, cancer/testis specific;melanoma-associated antigen C2 APPROVED protein-coding ENSG00000046774 HGNC:13574 06632 300468 REVIEWED 736331 MAGED1 melanoma antigen family D, 1 This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X p11.23 56085672 56184754 - 51546155 51645450 + 51803059 51902354 + 6480464;6907045 10409427;10985348;11084035;11087672;11280991;11313144;11546791;11959851;12023963;12204258;12376548;12477932;12598531;12716928;12754255;12787561;15094062;15162511;15489334;15772651;15930293;16125672;16169070;16196087;16388736;16713569;17140727;17149546;17353931;17453828;17488777;17558393;18457437;18985028;19639218;20100315;20237496;20864041;20868560;20972266;21109781;21139048;21145461;21726808;21890473;21903422;21906983;21988832;22053931;22190034;22505724;22544753;22797925;22935435;23000965;23314527;23443559;23455922;24250222;24255178;24710624;24722188;24947323;25036637 9500 B4DQ04;Q9Y5V3 ABBA01059953;ABBA01059954;ABBA01059955;ABBA01059956;ABBA01059957;ABBA01059958;ABBA01059959;ABBA01059960;ABBA01059961;ABBA01059962;ABBA01059963;ABBA01059964;ABBA01059965;ABBA01059966;ABBA01059967;AC241520;AC247046;AF124440;AF132205;AF217963;AF258554;AF300328;AK074092;AK298574;AK308706;AK314053;AL133628;AL929101;AL929410;AMYH02039375;BC014070;BC032473;BF529661;BG819042;BX422007;CD387872;CH471230;KF459115;NG_012559;NM_001005332;NM_001005333;NM_006986 AAD31421;AAG09704;AAG23757;AAG35551;AAH14070;AAH32473;AAQ14483;BAB84918;BAG60766;CAB63752;EAW62896;EAW62897;NP_001005332;NP_001005333;NP_008917;Q9Y5V3 Hs.5258 1702496;1702550;1717239;1754629;2139061;2160071;5015861;5016596;5022425;5037552;7185938 D10S16;D22S296;D8S2279;DXS1381;DXS1401;DXS7718;GDB:631802;RH122034;SHGC-132977;SHGC-58265 DLXIN-1 MAGE tumor antigen CCF;MAGE-D1 antigen;NRAGE;OTTHUMP00000023302;OTTHUMP00000023303;OTTHUMP00000023304;OTTHUMP00000023305;melanoma antigen, family d, 1;melanoma-associated antigen D1;neurotrophin receptor-interacting MAGE homolog APPROVED protein-coding ENSG00000179222 HGNC:6813 02202 300224 REVIEWED 1349538 MAGEB5 melanoma antigen family B, 5 X X X p21.3 30361713 30363673 + 26234286 26236387 + 26216169 26218270 + 10861452 347541 Q9BZ81 ABBA01072512;AC005297;AF333705;AMYH02039063;CR747535;NM_001271752 AAK00357;NP_001258681;Q9BZ81 Hs.224079 2107307 MAGEB5__7358 CT3.3;MAGE-B5 MAGE family testis and tumor-specific protein;MAGE-B5 antigen;cancer/testis antigen 3.3;cancer/testis antigen family 3, member 3;melanoma-associated antigen B5 protein-coding ENSG00000188408 HGNC:23795 300466 VALIDATED 1346034 MAGEE2 melanoma antigen family E, 2 This gene encodes a member of the E subfamily of MAGE (melanoma antigen-encoding gene) gene family. The gene is intronless and the encoded protein has two of the MAGE domains which are characteristic of MAGE family proteins. [provided by RefSeq, Sep 2011] X X X q13.3 75286151 75288407 - 75002823 75005079 - 75782988 75785244 - 6480464;8554872 11454705;12477932;14702039;15489334;15772651;16344560 139599 Q8TD90 ABBA01059408;AF490509;AK094624;AL391495;AMYH02039791;BC093964;BC111949;CH471104;DA793762;NG_021324;NM_138703 AAH93964;AAI11950;AAM08356;BAC04387;EAW98625;NP_619648;Q8TD90 Hs.356869 1658267 SHGC-36373 HCA3;MGC138154 MAGE-E2 antigen;OTTHUMP00000023584;hepatocellular carcinoma-associated protein 3;hepatocellular carcinoma-associated protein HCA3;melanoma-associated antigen E2 APPROVED protein-coding ENSG00000186675 HGNC:24935 06585 300760 REVIEWED 1348798 MAGEF1 melanoma antigen family F, 1 This intronless gene encodes a member of the MAGE superfamily. It is ubiquitously expressed in normal tissues and in tumor cells. This gene includes a microsatellite repeat in the coding region. [provided by RefSeq, Jul 2008] 3 3 3 q13 182876192 182877873 - 184428155 184429836 - 184710367 184712048 - 6480464 11313144;11454705;12477932;15489334;17207965;20800603;20864041;21139048;21364888;21906983;22797925;24911587 64110 Q9HAY2 ABBA01058434;AC107294;AF295378;AF320910;AMYH02008312;BC010056;BQ058163;BQ070043;CH471052;NM_022149 AAG30208;AAG38606;AAH10056;ADQ32642;EAW78235;NP_071432;Q9HAY2 Hs.306123 2112590;2119938;2191509 A006Q20;D3S4356;MARC_24277-24278:1030041558:1 MGC19617 MAGE-F1 antigen;OTTHUMP00000210456;melanoma-associated antigen F1 APPROVED protein-coding ENSG00000177383 HGNC:29639 14348 609267 REVIEWED 734427 MAGED2 melanoma antigen family D, 2 This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked mental retardation (XLMR). This gene may also be involved in several types of cancer, including breast cancer and melanoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X p11.2 58666731 58675005 + 54834131 54842445 + 54807599 54816015 + 6480464 10463614;10752678;11856887;12477932;14702039;15162511;15302935;15465002;15489334;15772651;16169070;16196087;17081983;17643375;17912449;18095154;18781797;19946888;20237496;20562859;21139048;21145461;21364888;21726808;21890473;21906983;21963094;21987572;22053931;22505724;22678362;22791814;22797925;22863883;22939629;23000965;23254330;23443559;23602568;23667531;24250222;24457600;24816145;25036637 10916 Q5H907;Q5H909;Q9UNF1 ABBA01069585;ABBA01069586;ABBA01069587;AF126181;AF128527;AF128528;AF148815;AF320907;AJ293618;AK091003;AK092463;AK098645;AK297910;AK301599;AK301821;AMYH02039494;BC000304;BC091503;BM043994;BM803170;BQ423605;BX647995;CH471154;DB467873;HY017171;NG_012844;NM_014599;NM_177433;NM_201222;U92544;Z98046 AAD00728;AAD28598;AAD33392;AAD33393;AAF73137;AAG38603;AAH00304;AAH91503;ABM82338;ABM85513;ABM87819;BAC03896;BAG60229;BAG63087;BAG63267;CAC19410;EAW93189;EAW93190;EAW93191;EAW93192;EAW93193;EAW93194;EAW93195;EAW93196;EAW93197;EAW93198;NP_055414;NP_803182;NP_957516;Q9UNF1 Hs.522665 1682181;1739491;1772413;1776554;2117278 DXS7159;DXS7547;RH64607;RH68550;RH77912 11B6;BCG-1;BCG1;HCA10;JCL-1;MAGE-D2;MGC8386 MAGE-D2 antigen;MAGED;OTTHUMP00000023381;OTTHUMP00000023382;OTTHUMP00000023383;OTTHUMP00000023384;breast cancer associated gene 1;breast cancer-associated gene 1 protein;hepatocellular carcinoma associated protein;hepatocellular carcinoma-associated protein HCA10;hepatocellular carcinoma-associated protein JCL-1;melanoma antigen, family d, 2;melanoma-associated antigen D2 APPROVED protein-coding ENSG00000102316 HGNC:16353 06630 300470 REVIEWED 1349577 MAGEH1 melanoma antigen family H, 1 This gene belongs to the non-CT (non cancer/testis) subgroup of the melanoma-associated antigen (MAGE) superfamily. The encoded protein is likely associated with apoptosis, cell cycle arrest, growth inhibition or cell differentiation. The protein may be involved in the atRA (all-trans retinoic acid) signaling through the STAT1-alpha (signal transducer and activator of transcription 1-alpha) pathway. [provided by RefSeq, Aug 2013] X X X p11.21 59313626 59315087 + 55478538 55479999 + 55452089 55453568 + 729117;1580863;6480464;8554872 12414813 10948432;11454705;12477932;15383276;15489334;15694019;15772651;16169070;16189514;16574066;18759029;20088962;21364888;21418516;21832049;21906983;21988832;23000965 28986 Q9H213 AA634056;ABBA01069526;AF143235;AF320912;AI191172;AK313527;AL590410;AMYH02039501;BC011954;BI916425;CH471154;CS185548;NG_013248;NM_014061 AAD31314;AAG38608;AAH11954;ABM85572;BAG36306;CAJ42729;EAW93221;EAW93222;NP_054780;Q9H213 Hs.279819 1857435;2133834;2136951;5106108 DXS8146;MAGEH1;STS-N25539;WI-19776 APR-1;APR1 MAGE-H1 antigen;MAGEH;OTTHUMP00000023401;apoptosis-related protein 1;melanoma antigen, family H, 1 protein;melanoma-associated antigen H1;restin APPROVED protein-coding ENSG00000187601 HGNC:24092 06633 300548 REVIEWED 1320098 MAGEL2 MAGE-like 2 Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010] 15 15 15 q11-q12 2049600 2053898 - 23888696 23892993 - 23643549 23647846 - 6480464;8699517;7240710;8554872 10556298;10915770;12477932;20301505;20467835;20864041;21139048;23452853;24076603 54551 H0YDD5;Q9UJ55 ABBA01048681;AC124309;AF200625;AJ243531;AMYH02030086;BC035839;BC063834;BC112257;BC112259;CH471151;NG_016776;NM_019066 AAG28577;AAH35839;AAH63834;AAI12258;AAI12260;AAI67825;CAB62393;EAW57609;NP_061939;Q9UJ55 Hs.141496 1796274 MAGEL2_358 NDNL1;PWLS;nM15 MAGE-like protein 2;OTTHUMP00000236233;necdin-like protein 1 APPROVED protein-coding ENSG00000254585 HGNC:6814 12008 605283;615547 REVIEWED 6481334 MAGI1-AS1 MAGI1 antisense RNA 1 3 3 65879491 65910972 + 65893816 65925297 + 100873983 ABBA01024299;AC025589;AMYH02006974;BX089101;HG495756;NR_046575 Hs.663889 APPROVED ncrna ENSG00000240175 HGNC:40091 VALIDATED 1626386 MAGED4B melanoma antigen family D, 4B This gene is a member of the MAGED gene family. It is expressed only in brain and ovary, and some transcript variants of this gene are specifically expressed in glioma cells. This gene is clustered with other MAGED genes on chromosome Xp11. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] X X X p11 55915943 55923388 + 51804923 51812368 - 52061827 52069272 - 6480464 11230166;11347906;11406556;11602350;12168954;12477932;14702039;15489334;16169070;16225959;19615732;20864041;21364888;21618523;21900206;21906983;22459352;22505724;24068544;24250222 81557 D6RBW3;H0Y8Z3;H0Y937;Q96JG8 AB040527;AB040528;AB040529;AB056059;AB058762;AC239585;AF320908;AF329733;AK094541;AK098830;AK289458;AK308365;AL136582;BC001207;BC063838;BC081566;BX537154;CH471230;NG_029896;NM_001242362;NM_030801;NM_177535;NM_177537;XM_006724607;XM_006724608 AAG38604;AAH01207;AAH63838;AAH81566;AAL50032;BAB33378;BAB33379;BAB33380;BAB47488;BAB61778;BAB61779;BAB61780;BAF82147;CAB66517;CAI41307;EAW62885;EAW62888;EAW62894;NP_001229291;NP_110428;NP_803879;NP_803881;Q96JG8;XP_006724670;XP_006724671 Hs.522650;Hs.571729;Hs.733143 1853335 WI-15363 KIAA1859;MGC3210;MGC88639 MAGE-D4 antigen;MAGE-E1 antigen;OTTHUMP00000023307;OTTHUMP00000217090;OTTHUMP00000217091;OTTHUMP00000217094;melanoma-associated antigen D4 APPROVED protein-coding ENSG00000187243 HGNC:22880 06631 300765 REVIEWED 6481362 MAGI2-AS1 MAGI2 antisense RNA 1 100874020 AA293893;AC008071;HG500352 Hs.583506 APPROVED ncrna HGNC:40860 6481365 MAGI2-AS2 MAGI2 antisense RNA 2 7 7 78638304 78641593 + 79008988 79012277 + 100874021 ABBA01058030;AC006324;AMYH02016124;BX102296;HG500353;NR_046689 Hs.128252 AC006324.1 APPROVED ncrna ENSG00000226978 HGNC:40861 PREDICTED 1349261 MAGEE1 melanoma antigen family E, 1 This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to mental retardation. [provided by RefSeq, Mar 2010] X X X q13.3 75927786 75931486 + 75648046 75651746 + 76427653 76431353 + 1580863;6480464 10997877;12477932;14623885;15489334;16344560;16713569;18029348;20862285;20864041;21139048;22632162;23268337 57692 Q9HCI5 AB046807;ABBA01059333;AF320909;AF490507;AK291270;AL096827;AL590789;AMYH02039801;BC050588;CH471104;DA411859;NG_016774;NM_020932 AAG38605;AAH50588;AAM08354;BAB13413;BAF83959;CAI42970;EAW98620;NP_065983;Q9HCI5 Hs.8453 2178556;2220292 AB060256;DXS9755 HCA1;KIAA1587 DAMAGE;MAGE-E1 antigen;OTTHUMP00000023588;alpha-dystrobrevin-associated MAGE Protein;dystrobrevin-associated MAGE protein;hepatocellular carcinoma-associated HCA1;hepatocellular carcinoma-associated protein 1;melanoma-associated antigen E1 APPROVED protein-coding ENSG00000198934 HGNC:24934 06583 300759 REVIEWED 1605344 MAGIX MAGI family member, X-linked INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsane; arsenic atom X X X p11.23 52640533 52645188 - 49019181 49023836 + 49162564 49183497 + 6480464 12477932;14702039;16344560;24250222 79917 C9J123;Q9H6Y5 ABBA01046129;ABBA01046130;AC231657;AC232271;AF196779;AI369342;AK025340;AK094251;AK096058;AMYH02039321;BC027995;BC067800;BC114943;CH471224;DA072017;DQ884401;NM_001099681;NM_001099682;NM_024859;XM_005278062;XM_005278063;XM_005278064;XM_005278065;XM_006724560;XR_430508 ABI63368;BAB15115;EAW50691;EAW50692;EAW50693;NP_001093151;NP_001093152;NP_079135;Q9H6Y5;XP_005278119;XP_005278120;XP_005278121;XP_005278122;XP_006724623 Hs.193170 1853502;2146871;2174500;5015619 D11S3114;RH70282;RH77979;SHGC-57082 FLJ21687;JM10;MGC138889;PDZX OTTHUMP00000032420;OTTHUMP00000032421;OTTHUMP00000032422;OTTHUMP00000032423;OTTHUMP00000032424;OTTHUMP00000032425;OTTHUMP00000226738;PDZ domain containing protein;PDZ domain containing, X chromosome;PDZ domain-containing protein MAGIX protein-coding ENSG00000269313 HGNC:30006 06538 VALIDATED 1605836 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ENCODES a protein that exhibits ATP binding (inferred); frizzled binding (inferred); INVOLVED IN positive regulation of JUN kinase activity (inferred); viral process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); plasma membrane (inferred); tight junction (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; quercetin 1 1 1 p12-p11.2 112163278 112457777 + 113933087 114228545 + 113390465 113685923 + 6480464;8554872 10748157;10997877;11969287;12140759;12421765;12477932;12615970;14702039;15195140;15652357;16316992;16904289;16964398;18518978;19071123;19144635;19615732;20379614;21134377;21853274;23251661;23568457;23782696 260425 Q5TCQ9;Q9H8K0 AA992863;AB046854;ABBA01068454;ABBA01068455;ABBA01068456;ABBA01068457;AF213259;AK026417;AK311589;AL133517;AL365225;AL389921;AL390759;AL391058;AMYH02001765;AMYH02001766;AMYH02001767;AMYH02001768;AMYH02001769;AMYH02001770;AMYH02001771;AMYH02001772;AMYH02001773;BC130409;BC144144;CH471122;NM_001142782;NM_152900;XM_005270737 AAG43837;AAI30410;BAB13460;BAB15479;EAW56559;EAW56560;EAW56561;EAW56562;EAW56563;NP_001136254;NP_690864;Q5TCQ9;XP_005270794 Hs.486189 1658453;1672646;1680341;1684479;1684876;1692256;1693662;1697844;1791260;2135248;2164531;5092426 AL033791;G16325;G54309;MARC_9651-9652:996688495:1;RH102449;RH45978;RH48436;RH76599;RH98931;SHGC-58592;SHGC-75342;SHGC-75346 MAGI-3;MGC163281;RP4-730K3.1;dJ730K3.2 OTTHUMP00000013454;OTTHUMP00000013455;OTTHUMP00000013456;OTTHUMP00000013457;membrane-associated guanylate kinase inverted 3;membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3;membrane-associated guanylate kinase-related 3 protein-coding ENSG00000081026 HGNC:29647 11290 615943 VALIDATED 1346623 MAGOH3P mago-nashi homolog 2, proliferation-associated (Drosophila), pseudogene 14 14 14 q24.1 49387173 49388245 + 69328440 69329510 + 68861723 68862793 + 12508121 90352 ABBA01023683;AL132986;AMYH02029426;NG_002581 MAGOHP1 MAGOHP APPROVED pseudo HGNC:20020 INFERRED 2292057 MAGOH2 mago-nashi homolog 2 (pseudogene) 17 17 17 10649861 10650684 - 10619260 10619899 - 10715943 10716582 - 23084401;24068947 100506898 ABBA01054979;AC002347;AMYH02032969;AW371909;AY672100;NR_049723 Hs.674373 mago-nashi homolog 2, proliferation-associated (Drosophila) APPROVED pseudo HGNC:30148 VALIDATED 1322871 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 p14.1 65356153 66040780 - 65339200 66024511 - 65353525 66038836 - 1580863;6480464;8554872 10772923;11168587;11274227;11350080;11969287;12042308;12097473;12477932;12773569;14627983;14702039;15317815;15509766;15778465;15908431;16019084;16043488;16169070;16217014;16316992;16339077;16464232;17191119;17353931;18519826;18562638;19071123;19586902;20379614;20562105;20936779;21070662;21123374;21139048;21238461;21489588;21685691;21942217;22381734;22718816;22911767;23382691;23534349;23782696;24204828;24250222;24255178;9169421;9225980;9395497;9647693;9647739 9223 H7C4S7;H7C4U7;H7C535;H7C5T8;Q96QZ7 AB010894;ABBA01024298;ABBA01024299;ABBA01024300;ABBA01024301;ABBA01024302;AC025589;AC099058;AC104438;AC106827;AC112516;AC121493;AC133438;AC145425;AF088016;AF401654;AF401655;AF401656;AK023358;AK124433;AK127518;AK130632;AK289803;AK307794;AK310365;AL050184;AMYH02006964;AMYH02006965;AMYH02006966;AMYH02006967;AMYH02006968;AMYH02006969;AMYH02006970;AMYH02006971;AMYH02006972;AMYH02006973;AMYH02006974;BC062367;CH471055;HG495754;KC170987;KF457639;NG_029778;NM_001033057;NM_004742;NM_015520;U80754;U96115;XM_005265563;XM_005265564;XM_005265565;XM_005265566;XM_005265568;XM_005265570;XM_005265571;XM_005265574;XM_006713407;XM_006713408;XM_006713409;XM_006713410;XM_006713411;XM_006713412;XM_006713413;XM_006713414 AAC04844;AAC51326;AAI67863;AAK94064;AAK94065;AAK94066;AGT57742;BAA32002;BAF82492;EAW65439;EAW65440;EAW65441;EAW65442;EAW65443;EAW65444;EAW65445;NP_001028229;NP_004733;NP_056335;Q96QZ7;XP_005265620;XP_005265621;XP_005265622;XP_005265623;XP_005265625;XP_005265627;XP_005265628;XP_005265631;XP_006713470;XP_006713471;XP_006713472;XP_006713473;XP_006713474;XP_006713475;XP_006713476;XP_006713477 Hs.476636 1648411;1655981;1660054;1666568;1672947;1673799;1704568;1706134;1715477;1718799;1728625;1740237;1760349;1762363;1763747;1766365;1772794;1774523;1784192;1784572;2112676;2112744;2114378;2120869;2122893;2132668;2135965;2139958;2151101;2156563;2159503;2218292;5093802 A009X02;AFMA303ZF9;BAIAP1_4428;D3S1720;D3S2413;D3S3902;D3S4397;D3S4439;G32932;G63604;GDB:313465;RH120905;RH123103;RH17837;RH45407;RH68778;RH78728;SGC30284;SGC38291;SHGC-106950;SHGC-13632;SHGC-141924;SHGC-14443;SHGC-146194;SHGC-147419;SHGC-149703;SHGC-155346;SHGC-58161;SHGC-77041;SHGC-80108;SHGC-83091;WI-15222;WI-18488 AIP-3;AIP3;BAIAP1;BAP-1;BAP1;MAGI-1;Magi1d;RP11-88H12.2;TNRC19;WWP3 BAI1-associated protein 1;OTTHUMP00000212270;OTTHUMP00000212271;OTTHUMP00000212272;OTTHUMP00000212273;OTTHUMP00000212274;OTTHUMP00000212275;OTTHUMP00000222428;WW domain-containing protein 3;atrophin-1 interacting protein 3;atrophin-1-interacting protein 3;membrane associated guanylate kinase inverted-1;membrane-associated guanylate kinase inverted 1;membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1;trinucleotide repeat-containing gene 19 protein APPROVED protein-coding ENSG00000151276 HGNC:946 04020 602625 REVIEWED 5144473 MAGI2-AS3 MAGI2 antisense RNA 3 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 7 7 7 73784287 73794034 + 79082273 79100524 + 79452957 79471208 + 6480464;8554872 14702039;15146197;16344560;18487259;19416867 100505881 AB371456;ABBA01058033;AC004945;AK021837;AK311103;AL833456;AMYH02016132;AMYH02016133;BI521274;BI868593;BQ008953;BX641113;CH236949;CN311982;CR749529;DA758742;GD146486;NR_038343;NR_038344;NR_038345;NR_038346 Hs.31474 1661950;1689564;1773816;1857720;2185458;5015861;5015881;5024039;5024761;5109663;7185938 D10S16;D16S325;D7S2067E;GDB:335751;HUM000S144;RH36905;RH46565;RH47667;RH66151;SHGC-32490 DKFZp686F08110 APPROVED ncrna ENSG00000234456 HGNC:40862 VALIDATED 735850 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008] 7 7 7 q21 72346978 73783869 - 77646374 79083121 - 78017057 79453805 - 6480464;8554872 10080919;10548487;10681527;10760291;11526121;11707428;11826105;12421765;12477932;12589829;12690205;12853948;14529612;15122254;15451561;15652357;16316992;17353931;17880912;17989107;18565486;18720471;19086053;19240061;19668339;19913121;19948740;20096742;20101691;20379614;20628086;20668459;20966902;21515326;22041458;22381734;22649501;23007406;23236378;23251661;23754155;23782696;23897914;24324551;9647693;9734811;9847074 9863 E7EWI0;F5GWH1;Q86UL8 AA448362;AA890379;AB014605;ABBA01058021;ABBA01058022;ABBA01058023;ABBA01058024;ABBA01058025;ABBA01058026;ABBA01058027;ABBA01058028;ABBA01058029;ABBA01058030;ABBA01058031;ABBA01058032;ABBA01058033;AC004547;AC004808;AC004945;AC004990;AC005246;AC006043;AC006324;AC006355;AC007237;AC007361;AC008071;AC073092;AC073200;AC074024;AF038563;AK297353;AK297580;AK298988;AK308685;AK309012;AMYH02016113;AMYH02016114;AMYH02016115;AMYH02016116;AMYH02016117;AMYH02016118;AMYH02016119;AMYH02016120;AMYH02016121;AMYH02016122;AMYH02016123;AMYH02016124;AMYH02016125;AMYH02016126;AMYH02016127;AMYH02016128;AMYH02016129;AMYH02016130;AMYH02016131;AMYH02016132;BC150277;CH236949;CH471091;KF495982;KF495983;KF495984;KF495985;KF511045;NG_011487;NM_001301128;NM_012301;XM_005250725;Z19922 AAC05370;AAC23438;AAC25530;AAC61488;AAC79151;AAD15413;AAF66080;AAI50278;AAP21886;AAP22360;BAA31680;BAH12560;BAH12619;BAH12916;EAL24194;EAW77021;EAW77022;EAW77023;EAW77024;EAW77025;NP_001288057;NP_036433;Q86UL8;XP_005250782 Hs.603842 1299970;1334763;1335195;1335509;1336457;1644508;1645528;1647457;1651347;1651752;1669862;1670656;1674622;1704780;1705320;1705612;1706086;1707158;1707810;1710276;1710380;1710776;1714645;1715387;1725249;1735674;1754365;1768823;1773623;1851009;1853329;1853492;1857301;2114242;2116299;2121828;2121855;2124410;2128748;2135410;2135923;2136063;2136162;2139657;2141640;2141902;2142514;2160081;2161664;2167313;2186363;2218204;5017537;5023069;5093844;7184000;7186484 A009X37;AFM312xb5;AFMb281wd5;AIP1__4270;CHLC.GATA8G02;D7S1446;D7S1859;D7S1885;D7S1950;D7S2135E;D7S2204;D7S2421;D7S2517;D7S2526;D7S2815;D7S669;G17119;G17176;G32958;GDB:1317594;GDB:1317710;GDB:1317832;GDB:1317838;GDB:1317842;GDB:1317844;GDB:1317846;GDB:1317902;GDB:1318088;GDB:1318152;GDB:1318164;GDB:1318491;GDB:4585245;MAGI2;RH118918;RH119987;RH120526;SGC30594;SHGC-132385;SHGC-31005;SHGC-31136;SHGC-53900;SHGC-60231;SHGC-60232;SHGC-79835;SHGC-79837;SHGC-80080;SHGC-81349;SHGC-82131;SHGC-82461;SHGC-83003;SHGC-84053;SHGC-85234;WI-18076;WI-22277;ha2177 ACVRIP1;AIP-1;AIP1;ARIP1;MAGI-2;SSCAM OTTHUMP00000161290;OTTHUMP00000208077;OTTHUMP00000208078;activin receptor interacting protein 1;atrophin 1 interacting protein 1;atrophin-1 interacting protein A;atrophin-1-interacting protein 1;atrophin-1-interacting protein A;membrane-associated guanylate kinase inverted 2;membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 APPROVED protein-coding ENSG00000187391 HGNC:18957 16212 606382 REVIEWED 1602707 MAGOHB mago-nashi homolog B (Drosophila) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA processing (inferred); mRNA transport (inferred); RNA splicing (inferred); PARTICIPATES IN mRNA decay pathway; spliceosome pathway; FOUND IN nucleus (inferred); INTERACTS WITH copper atom; copper(0); coumestrol 12 12 12 p13.2 15905150 15914533 - 10756364 10766208 - 10603765 10613609 - 6480464;6907045 12477932;14702039;15324660;15489334;15970630;16189514;16501559;20379614;21044950;21139048;21319273;21890473;21906983;21963094;21987572;22505724;22939629;23000965;23166591;23917022;24416299;24457600;24816145 55110 F5H124;F5H3U9;F5H6N1;F5H6P7;Q96A72 ABBA01067806;AC021049;AF165518;AK001154;AK022720;AK096106;AMYH02026029;BC010905;BG533740;CD357202;CH471094;KF051004;NM_001300739;NM_018048;XM_005253402 AAF86648;AAH10905;AHX83790;BAA91522;BAB14202;EAW96196;EAW96197;EAW96198;EAW96199;NP_001287668;NP_060518;Q96A72;XP_005253459 Hs.104650 1686730;2126879;2167713 RH44698;RH94106;SHGC-54535 FLJ10292;MGN2;mago OTTHUMP00000238720;OTTHUMP00000238722;mago-nashi homolog 2;magoh;protein mago nashi homolog 2 protein-coding ENSG00000111196 HGNC:25504 08544 VALIDATED 1348409 MAL2 mal, T-cell differentiation protein 2 (gene/pseudogene) This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008] 8 8 8 q23 116410022 116447299 + 120220610 120257913 + 119208371 119245673 + 1580863;6480464 11549320;12370246;12477932;12963375;14576188;14702039;14729876;15168355;15466889;15489334;16445687;16620967;17145811;17255364;19056867;19175940;19322201;19668339;19683524;20846453;21573057;21988832;22321011 114569 Q969L2 ABBA01037813;AC087856;AK172820;AK312030;AL117612;AMYH02018675;AY007723;BC012367;CH471060;CV574204;GN341820;KF495716;NM_052886 AAG15576;AAH12367;ABM84669;ABM92201;BAD18789;BAG34967;CAY39329;EAW91981;EAW91982;NP_443118;Q969L2 Hs.201083 1654561;1672680;1698338;1735842;1796276 D8S1437E;MAL2_906;RH102710;RH47269;SHGC-32002 MAL proteolipid protein 2;MAL2 proteolipid protein APPROVED protein-coding ENSG00000147676 HGNC:13634 14351 609684 REVIEWED 1350635 MAK16 MAK16 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 1-nitropyrene; 17beta-estradiol; aflatoxin B1 8 8 8 p12 32292407 32308483 + 33342685 33358778 + 33485167 33501260 + 6480464;8554872 11790298;12429849;12477932;14702039;15342556;15489334;15635413;17081983;17207965;19322201;21139048;21890473;22113938;22586326;22678362;23891004;24816145;8125298 84549 H0YBV6;Q9BXY0 ABBA01023609;ABBA01023610;AC091144;AF251062;AK027469;AK225476;AK314491;AL049422;AMYH02017768;BC015965;BC028230;BC039740;BC050528;BP281245;CH471080;CS300754;NM_032509 AAH15965;AAH28230;AAH39740;AAH50528;AAK34952;ADQ33073;BAB55134;BAG37091;CAK32418;EAW63400;NP_115898;Q9BXY0 Hs.583805 1652276;1674174;2144186;5017857 27STS02;G29147;SHGC-32777;SHGC-5767 MAK16L;NNP78;RBM13 OTTHUMP00000225467;RNA binding motif protein 13;RNA binding protein;protein MAK16 homolog protein-coding ENSG00000198042 HGNC:13703 15223 VALIDATED 735676 MAL mal, T-cell differentiation protein The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012] 2 2 2 q11.1 90041551 90070642 + 95691400 95719737 + 95025655 95053992 + 1580863;1358761;6480464;8554872 15193296 10366425;10428054;10512878;10739088;12153479;12429796;12477932;12776198;15188492;15466889;15489334;16785208;17151798;17213182;17408629;18346269;19002170;19064572;19208741;19423540;19445022;19642140;19670627;20048342;20400509;20406964;20438785;20448286;20822478;21092172;21190187;21389098;21508261;21988832;22485159;23176198;23224601;23381221;23456988;23940119;23983209;24265315;24511665;3257199;3494249;8088843;8132541;9003426;9168919;9528996 4118 P21145 ABBA01003576;ABBA01003577;AC103563;AK311844;AMYH02004297;BC000458;BC003006;CH471219;CR541879;DT215613;HI178996;HI178998;HI179000;HI179002;M15800;NM_002371;NM_022438;NM_022439;NM_022440;X76220;X76221;X76222;X76223;X76678;X76679;X76680;X76681 AAA36196;AAH00458;AAH03006;AAY24121;BAG34786;CAA53809;CAA54100;CAA54101;CAA54102;CAA54103;CAG46677;CBX53807;CBX53808;CBX53809;CBX53810;EAX10705;EAX10706;EAX10707;EAX10708;EAX10709;EAX10710;NP_002362;NP_071883;NP_071884;NP_071885;P21145 Hs.80395 1647861;2124877;2170518;2217582;5120476 GDB:331320;MAL_3219;RH69079;SHGC-57042;WIAF-2545 OTTHUMP00000162859;OTTHUMP00000162860;OTTHUMP00000162861;OTTHUMP00000162862;T-cell differentiation protein MAL;T-lymphocyte maturation-associated protein;myelin and lymphocyte protein APPROVED protein-coding ENSG00000172005 HGNC:6817 01789 188860 REVIEWED 1346754 MALAT1 metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) INTERACTS WITH (S)-nicotine; 5-fluorouracil; all-trans-retinoic acid 11 11 11 q13.1 62591512 62600220 + 65265224 65273940 + 65497762 65506469 + 6480464 10843802;12477932;12837690;12970751;16441420;17270048;19041754;19167051;19690017;20149803;20213048;20711585;20797886;21503572;21678027;21941126;22078878;22088988;22560368;22722759;22751105;22858678;23129630;23153939;23243023;23555285;23726266;23847102;23898077;23973260;24120702;24244343;24602777;25025966;9253601 378938 Q9UHZ2 ABBA01024115;AF001542;AF132202;AF203815;AJ535465;AK130345;AL050210;AMYH02024960;AP000769;BC018448;BC025986;BC063689;BC104662;BK001411;BK001418;BX538238;BX640764;EF177381;HG503869;NR_002819 Hs.621695;Hs.642877 1647614;1647616;1666695;1673265;1674412;1675305;1736168;1736180;1739791;1768565;1774399;1776765;1847820;2119293;2126655;2145448;2154585;2167557;2169253;2173495;2185168;5093562 1072;1192;A005V08;A009Q43;D11S1957E;D11S2256E;D11S2289E;D11S4055E;D11S4570;D11S951E;G20528;G32792;RH12529;RH17566;RH42001;RH67818;SGC30658;SGC35206;SHGC-31329;SHGC-35161;STS-T94789;WI-12191 HCN;LINC00047;MALAT-1;NCRNA00047;NEAT2;PRO2853 mascRNA ncrna ENSG00000251562 HGNC:29665 607924 PROVISIONAL 1342796 MALL mal, T-cell differentiation protein-like This gene encodes an element of the machinery for raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. [provided by RefSeq, Jul 2008] 2 2 2 q13 104933285 104965980 + 110841447 110874143 - 110083870 110116566 - 6480464;8554872 11294831;12477932;1294831;14702039;15489334;16189514;16341674;18305945;7622049;9168137;9326933;9361039 7851 C9IZ55;F8WE57;Q13021 ABBA01015964;AC013268;AI911238;AK056616;AK125647;AK311353;AMYH02004557;AMYH02004558;AMYH02004559;AMYH02004560;AMYH02004561;BC003179;BM743962;CH878608;CS300695;NM_005434;U17077 AAA76738;AAH03179;ABM83796;ABM87117;BAG51765;BAG54228;CAK32359;EAW50639;NP_005425;Q13021 Hs.185055 1686052;1694484;2107891;2145460 BENE_8767;RH122303;RH79121;SHGC-62016 BENE;MGC4419 MAL-like protein;OTTHUMP00000161842 APPROVED protein-coding ENSG00000144063 HGNC:6818 15997 602022 VALIDATED 731507 MAGT1 magnesium transporter 1 This gene encodes a magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause mental retardation X-linked type 95 (MRX95). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. [provided by RefSeq, Jan 2010] X X X q21.1 77322738 77391930 - 77081861 77151090 - 77826364 77895568 - 6480464;7240710;8699517;8554872 11230166;11483580;12477932;12887896;12975309;14702039;15164054;15489334;15804357;15835887;16196087;16303743;17207965;18455129;19717468;19946888;20301507;21139048;21627970;21796205;21890473;21906983;21963094;21983175;21987572;22190034;22268729;22939629;24130152;24457600;8125298 84061 Q9H0U3 ABBA01029592;ABBA01029593;ABBA01029594;ABBA01029595;ABBA01029596;ABBA01029597;ABBA01029598;ABBA01029599;ABBA01029600;ABBA01029601;ABBA01029602;ABBA01029603;ABBA01029604;ABBA01029605;AF130104;AK027632;AK075394;AK172735;AK223131;AK294943;AK296743;AK314309;AL136636;AL138743;AL356235;AMYH02039818;AMYH02039819;AMYH02039820;AY358691;BC018447;BC041014;BC050657;BC060842;BC063037;CH471104;DC329979;DQ000004;NG_016390;NM_032121 AAG35529;AAH41014;AAH60842;AAH63037;AAQ89054;AAY18811;ACE86560;ACE87242;ADQ33025;BAB55249;BAC11592;BAD96851;BAG36961;BAG58019;BAG59327;CAB66571;EAW98608;EAW98609;EAW98610;NP_115497;Q9H0U3 Hs.323562 2117212;2117214;2150564;2151543;2176238;5015404;5022576;5491491 A006B26;D1S1361;DXS7160;DXS7802;G20677;L17705;MARC_15757-15758:1017937100:1;WI-17398 DKFZp564K142;FLJ14726;IAP;MGC64926;MRX95;OST3B;PRO0756;RP11-217H1.1;XMEN;bA217H1.1 OTTHUMP00000023589;implantation-associated protein;magnesium transporter protein 1;oligosaccharyltransferase 3 homolog B APPROVED protein-coding ENSG00000102158 HGNC:28880 06487 300715;300716;300853 REVIEWED 1313047 MAGOH mago-nashi homolog, proliferation-associated (Drosophila) Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. [provided by RefSeq, Jul 2008] 1 1 1 p32.3 51980410 51992053 - 53692564 53704282 - 53226892 53238610 - 6480464;6907045 10662555;11042152;11447110;11696323;11707413;11991638;12226669;12477932;12730685;12781131;14730019;14973490;15324660;15489334;16014633;16170325;16209946;16452507;16601204;16710414;16923391;16931718;17333237;17353931;18026120;19254694;19410547;19417104;20371770;21139048;21890473;21906983;21963094;21987572;21988832;22365833;22505724;23000965;23084401;23602568;23917022;24457600;24816145;9272960;9479507 4116 P61326 ABBA01074742;ABBA01074743;AF035940;AF067173;AF086246;AK297895;AK312113;AL606760;AMYH02001035;BC018211;BX283982;CH471059;NM_002370 AAC39606;AAD32457;AAH18211;ABM82215;ABM85399;BAG35049;BAG60216;EAX06747;EAX06748;NP_002361;P61326 Hs.421576 1680988;2163585;2174214 RH66217;RH91960;SHGC-74847 MAGOH1 MAGOHA;OTTHUMP00000010485;OTTHUMP00000010486;protein mago nashi homolog APPROVED protein-coding ENSG00000162385 HGNC:6815 04005 602603 REVIEWED 733464 MAK male germ cell-associated kinase The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. It is expressed almost exclusively in the testis, primarily in germ cells. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. There is, however, a study of the mouse homolog that has identified high levels of expression in developing sensory epithelia so its function may be more generalized. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 6 6 6 p24 11991430 12059559 - 10762956 10838788 - 10762723 10838555 - 1580863;6480464;8699517;7240710;8554872 12084720;12477932;14574404;14702039;1473268;15342556;16344560;16951154;16954377;20301590;21697133;21825139;2183027;21832049;21835304;21986944;21988832;22110072;23602568;23743448;8188277;8321219;8359591;8889548 4117 B3KUS6;F8VBW7;P20794;Q8IXN4 AB593146;ABBA01022085;ABBA01022086;ABBA01022087;ABBA01022088;ABBA01022089;AF505623;AK097831;AK310329;AK314408;AL024498;AMYH02013098;AMYH02013099;AMYH02013100;AMYH02013101;BC033002;BC039825;BM704130;BM978645;BP246863;CH471087;DB082719;JN135248;JN226411;M35863;NG_030040;NM_001242385;NM_001242957;NM_005906;XM_006715098;XR_427831 AAA36195;AAH39825;AAN16405;AEJ36294;AEL29206;BAG53538;BAJ84080;EAW55282;EAW55283;EAW55284;EAW55285;NP_001229314;NP_001229886;NP_005897;P20794;XP_006715161 Hs.446125 1675501;1681115;1688518;1711392;1789226;2160421;5022322 D11S2560;G42180;G65611;RH16150;RH91826;RH94354;RH98702 RP62;dJ417M14.2 OTTHUMP00000016025;male germ cell-associated kinase retinal-enriched isoform;serine/threonine protein kinase MAK;serine/threonine-protein kinase MAK APPROVED protein-coding ENSG00000111837 HGNC:6816 01101 154235;614181 REVIEWED 7246294 MAMDC2-AS1 MAMDC2 antisense RNA 1 9 9 72768050 72790804 - 70153134 70175888 - 100507244 ABBA01033820;AC212493;AK124126;AL392044;AMYH02020949;BC043510;HG502125;NR_040076 BAC85782 Hs.556816 1648057 D9S1999 RP11-195E11.2 ncrna ENSG00000204706 HGNC:48719 VALIDATED 1319401 MALT1 mucosa associated lymphoid tissue lymphoma translocation gene 1 This gene has been found to be recurrently rearranged in chromosomal translocation with two other genes - baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) and immunoglobulin heavy chain locus - in mucosa-associated lymphoid tissue lymphomas. The protein encoded by this gene may play a role in NF-kappaB activation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 18 18 18 q21 53055193 53133688 + 56338618 56417371 + 58671386 58750139 + 1599913;1599912;1580863;6480464;6484113;6907045;8699517;7240710;8554872 10523859;12560219 10339464;10406266;10610122;10626814;10702396;11090634;11096264;11162514;11262391;11707622;11960389;12406890;12477932;12651604;12761501;12819136;12931213;14562112;14695475;14702039;14760068;15125833;15191563;15363040;15489334;15598810;15696476;15982633;16123224;16341151;16395399;16395405;16630178;16804917;16874300;16891304;17047224;17101977;17135271;17145608;17189706;17199743;17353931;17363905;17894851;17948050;18029348;18212736;18223652;18231929;18367485;18625728;18691973;18806265;18931663;19060847;19112107;19234489;19279678;19394813;19444310;19494296;19841089;19897720;19965626;20079017;20551178;20695076;20804738;21055028;21139048;21273489;21283787;21448133;21513986;21757570;21833088;21873235;21906983;21966355;22309193;22323290;22366302;22574776;22689981;23018871;23238016;23238017;23264041;23322406;23358872;23416615;23455924;23690623;23770847;23778523;23799590;23946259;23977204;24004675;24074955;24130731;24332264;24491438;24654937;25015289;8619474;9110174 10892 A8K5S1;K7EP42;Q9UDY8 AB026118;ABBA01056155;ABBA01056156;AC104365;AC104971;AF070528;AF130356;AF316597;AK024859;AK092004;AK291386;AL137399;AMYH02034813;AMYH02034814;AMYH02034815;BC030143;CH471096;NG_033893;NM_006785;NM_173844;XM_005266644 AAD38507;AAG38589;AAH30143;ABM83245;ABM86447;BAA83099;BAF84075;CAB70725;EAW63078;EAW63079;NP_006776;NP_776216;Q9UDY8;XP_005266701 Hs.601217 1677256;1681847;1707568;2165865;2217580 MALT1_3779;RH68024;RH79985;RH93611;SHGC-84595 DKFZp434L132;IMD12;MLT;MLT1 MALT associated translocation;MALT lymphoma-associated translocation;MALT-lymphoma associated translocation;OTTHUMP00000163647;OTTHUMP00000163648;caspase-like protein;mucosa-associated lymphoid tissue lymphoma translocation protein 1;paracaspase APPROVED protein-coding ENSG00000172175 HGNC:6819 06892 604860;615468 REVIEWED 1315834 MALSU1 mitochondrial assembly of ribosomal large subunit 1 INVOLVED IN negative regulation of mitochondrial translation; ribosomal large subunit biogenesis; FOUND IN mitochondrion; INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; quercetin 7 7 7 p15.3 23325228 23335467 + 23338940 23349180 + 23299321 23309561 + 6480464 12477932;12690205;15489334;16548050;16730941;18029348;20186120;21890473;21963094;22238375;22238376;22939629;23171548 115416 Q96EH3 ABBA01056703;ABBA01056704;AC005082;AK127742;AK316559;AMYH02015361;BC012331;CH236948;CH471073;NM_138446 AAH12331;BAG38148;BAG54562;EAL24258;EAW93785;NP_612455;Q96EH3 Hs.87385 1653097;1852290;2134493;2179519;2184353;5024563;5024638;5125156 D7S1891;D7S2309;D7S2395;RH18504;RH36584;RH65486;RH68002;RH77863 C7orf30;mtRsfA OTTHUMP00000158559;hypothetical protein LOC115416;mitochondrial assembly of ribosomal large subunit protein 1;uncharacterized protein C7orf30 APPROVED protein-coding HGNC:21721 12918 614624 VALIDATED 1313593 MAML2 mastermind-like 2 (Drosophila) ENCODES a protein that exhibits transcription coactivator activity; INVOLVED IN Notch signaling pathway; positive regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN Notch signaling pathway; Notch signaling pathway; Notch signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Golgi apparatus; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 11 11 11 q21 93009819 93376547 - 95711440 96076344 - 95976593 96343180 - 2302204;6480464;6484113;6907045;8554872 17761886 11347906;12370315;12386158;12477932;12539049;14720503;15729701;15961999;16344560;16818685;17334997;17437281;17551948;18029348;18050304;18206539;19176441;19240061;19269006;19521953;19531414;19749740;20379614;20588178;20625861;21074686;21119597;21658281;21668476;21777943;21988832;22582766;22833306;23035786;23128233;23192594;23322567;23333304;23456168;23855785;23975434;24121173;24134933;24468654;24855209 84441 Q1HA41;Q8IZL2 AB058722;ABBA01040006;ABBA01040007;ABBA01040008;ABBA01040009;AK308157;AMYH02025388;AMYH02025389;AMYH02025390;AMYH02025391;AMYH02025392;AP000779;AP000848;AP000870;AW513171;AY040322;BC143529;BC152449;CH471065;CR627398;DA862475;DQ886024;KF455456;KF455461;KF455469;KF510387;KF511172;NM_032427 AAI43530;AAI52450;AAK93831;ABK63989;BAB47448;CAH10491;EAW66975;NP_115803;Q8IZL2 Hs.428214;Hs.745167 1335901;1336991;1669788;1673033;1678021;1687698;1696312;1698670;1700776;1704954;1716727;1718067;1731509;1733296;1737103;1737197;1737217;1756069;1758921;1771222;1848427;2114467;2122543;2133153;2138480;2147249;2151197;2151201;2157036;2167959;2179877 119XH4;A008T20;AFM238yh4;D11S1215;D11S1240;D11S1925;D11S2868;D11S3065;D11S3082;D11S4007;D11S4016;D11S4134;D11S4649;D11S919;G29142;L18075;RH102894;RH104013;RH121655;RH122651;RH47561;RH65520;RH78641;RH79787;RH99268;SHGC-142871;SHGC-151054;SHGC-77733;SHGC-77976;SHGC-899;WI-18444 DKFZp686N0150;KIAA1819;MAM-3;MAM2;MAM3;MGC176701;MLL-MAML2;mam-2 OTTHUMP00000236424;OTTHUMP00000236425;mastermind-like protein 2 protein-coding ENSG00000184384 HGNC:16259 09608 607537 VALIDATED 1318517 MAML1 mastermind-like 1 (Drosophila) This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008] 5 5 5 q35 174784899 174829445 + 179159833 179208035 + 179732850 179777286 + 1580863;2302204;6480464;6484113;6907045;8554872 17761886 11101851;11390662;11585921;11997524;12050117;12370315;12386158;12391150;12477932;12644465;15546612;16510869;16530044;17317671;17875709;18029348;18155729;19751190;19838210;19913121;20203086;20628086;21124806;21640102;21820430;22006371;22100894;22249263;22325781;22864395;22990361;23022380;23029358;23365452;23454378;24680774;8724849;9874765 9794 Q92585 AA975821;AB209135;ABBA01010035;ABBA01010036;ABBA01010037;ABBA01010038;ABBA01010039;ABBA01010040;AC113426;AF221759;AK295139;AMYH02012888;AMYH02012889;AMYH02012890;AMYH02012891;AMYH02012892;BC047937;CH471165;D83785;NM_014757 AAF34658;BAA12114;BAD92372;BAH11986;EAW53801;NP_055572;Q92585 Hs.631951 1664020;1677616;1722767;2139625;2171534;2217584;5106337 D5S2383;G60322;MAML1_3517;RH25413;RH46179;SHGC-24426;STS-N25670 FLJ53540;KIAA0200;Mam-1;Mam1 OTTHUMP00000223437;mastermind homolog;mastermind-like protein 1 APPROVED protein-coding ENSG00000161021 HGNC:13632 05665 605424 REVIEWED 1317803 MAML3 mastermind-like 3 (Drosophila) ENCODES a protein that exhibits transcription coactivator activity; INVOLVED IN Notch signaling pathway; positive regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN Notch signaling pathway; FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; crocidolite asbestos; disodium selenite 4 4 4 q28 137970363 138407341 - 140637545 141075233 - 139716391 140154079 - 1580863;2302204;6480464;6907045 17761886 11347906;12370315;12386158;12477932;12539049;14702039;16344560;18029348;20211142;20379614;23022380;23708190;9225980 55534 E7ESR8;H0Y920;Q96JK9;Q9NPV6 AA236382;ABBA01069969;ABBA01069970;ABBA01069971;ABBA01069972;ABBA01069973;ABBA01069974;AC097464;AC104798;AC108053;AC131182;AK123604;AK296891;AL359614;AMYH02010203;AMYH02010204;AMYH02010205;AMYH02010206;AMYH02010207;AW136739;BC137130;BC137131;BX506733;CH471056;DA408716;DN999776;NM_018717;R15711 AAI37131;AAI37132;BAG53919;BAG59450;CAB94884;EAX05107;NP_061187;Q96JK9 Hs.586165 1339690;1340807;1655130;1660871;1670486;1671644;1673308;1675267;1697656;1697728;1705798;1715423;1715651;1751669;1755185;1764837;1772881;1784974;1847364;1848585;2127132;2132228;2142870;2142872;2147184;2167853;2182814;2185834;2217586;7184046;7190747;7190751 D4S1170;D4S1579;D4S2608;D4S3089;D4S3148;D4S3169;D4S397;D4S878;MAML3_3602;RH102343;RH102386;RH119271;RH120544;RH45816;RH66669;SHGC-105617;SHGC-112071;SHGC-142102;SHGC-148398;SHGC-50309;SHGC-51064;SHGC-53408;SHGC-59304;SHGC-59764;SHGC-67807;SHGC-67961;SHGC-67964;SHGC-78981;STS-N24579 CAGH3;ERDA3;GDN;MAM-2;MAM2;TNRC3;mam-3 CAG repeat containing (glia-derived nexin I alpha);CAG repeat domain;OTTHUMP00000220228;OTTHUMP00000220229;expanded repeat domain, CAG/CTG 3;mastermind-like protein 3;polyglutamine rich;trinucleotide repeat containing 3 protein-coding ENSG00000196782 HGNC:16272 10066 608991 VALIDATED 1604980 MAMDC4 MAM domain containing 4 INVOLVED IN protein transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3H-1,2-dithiole-3-thione (ortholog); ammonium chloride (ortholog) 9 9 9 q34.3 110260608 110269040 + 139746819 139755251 + 136852367 136860799 + 6480464 12477932;12975309;7829488 158056 Q6UXC1 ABBA01022726;AL137659;AL355987;AL834531;AMYH02021914;AY358419;BC144258;BC144259;BF339007;BQ270782;CH471090;NM_206920 AAI56097;AAI72486;AAQ88785;CAD39187;EAW88293;EAW88294;EAW88295;NP_996803;Q6UXC1 Hs.376780 2132405 STS-N90764 AEGP;DKFZp434M1411 MAM domain-containing protein 4;OTTHUMP00000022621;OTTHUMP00000162515;apical early endosomal glycoprotein;apical endosomal glycoprotein;endotubin protein-coding ENSG00000177943 HGNC:24083 12434 VALIDATED 1344424 MAMLD1 mastermind-like domain containing 1 This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] X X X q28 149780137 149930293 + 149529836 149682448 + 150361422 150514178 + 6480464;7240710;8554872;8699517 12477932;14702039;16344560;17086185;17848411;18162467;18635673;19339788;20347055;22479329;22610502;22934520;23044878;23333304;8640223;8789451;8889548;9169146 10046 F8WAK3;Q13495 ABBA01037104;ABBA01037105;ABBA01037106;ABBA01037107;ABBA01037108;ABBA01037109;ABBA01037110;ABBA01037111;ABBA01037112;ABBA01037113;ABBA01037114;ABBA01037115;ABBA01037116;ABBA01037117;ABBA01037118;ABBA01037119;ABBA01037120;ABBA01037121;AC109994;AC136957;AC235697;AC235953;AK094563;AK125184;AK294478;AK297504;AK302612;AK315217;AL034384;AMYH02040762;AMYH02040763;AMYH02040764;AMYH02040765;AW594465;BC136324;BU687638;BX537560;CH471169;DA106253;DA527328;DC320452;DR001800;NG_017093;NM_001177465;NM_001177466;NM_005491;U46023;XM_005274636;XM_006724802;XM_006724803 AAC50551;AAI36325;BAC86075;BAG37651;BAG57704;BAG59917;BAG63859;EAW99376;NP_001170936;NP_001170937;NP_005482;Q13495;XP_005274693;XP_006724865;XP_006724866 Hs.20136 1339855;1684202;1702534;1702768;1703098;1740863;2171145;2181193;5095084;5095243 CXorf6;DXS10134_-_Allele_32.1;DXS1282;DXS1299;DXS462;DXS8069;DXS8377;RH80378;SHGC-13668;WI-11570 CG1;CXorf6;F18;HYSP2 OTTHUMP00000025851;OTTHUMP00000240704;mastermind-like domain-containing protein 1 APPROVED protein-coding ENSG00000013619 HGNC:2568 02126 300120;300758 REVIEWED 1604486 MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator ENCODES a protein that exhibits nucleic acid binding (inferred); RNA polymerase II transcription factor binding transcription factor activity (inferred); INVOLVED IN positive regulation of myotube differentiation (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); transcription from RNA polymerase II promoter (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cyclosporin A 19 19 19 q13.33 46082348 46089068 - 49215999 49222976 - 48712742 48719760 - 6480464 12477932;14702039;16818234;20686565;21060863;21833088;21926972;23449627;24097068 284358 M0QXF1;M0QY28;Q6ZN01 ABBA01032971;AC008888;AK093389;AK131427;AMYH02036310;BC105056;BC105058;BC106047;BC143443;BM973739;BX280379;BX431574;CH471177;NM_001130915;NM_001297753;NM_182574;XM_005258790;XM_006723160 AAI05057;AAI05059;AAI06048;AAI43444;BAC04152;BAD18574;EAW52390;EAW52391;EAW52392;NP_001124387;NP_001284682;NP_872380;Q6ZN01;XP_005258847;XP_006723223 Hs.191815 2109739;2128034;2147841;2153122;2172742 A004F11;D19S1127;EST196348;RASIP1_9847;WI-16013 FLJ36070;MASTR;MGC117259 MEF2-activating SAP transcriptional regulator;MEF2-activating SAP transcriptional regulatory protein;MEF2-activating motif and SAP domain-containing transcriptional regulator;likely ortholog of MEF2-activating SAP transcriptional regulator protein-coding ENSG00000176909 HGNC:26689 08204 610349 VALIDATED 1346421 MALRD1 MAM and LDL receptor class A domain containing 1 INVOLVED IN cholesterol homeostasis (inferred); negative regulation of bile acid biosynthetic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); membrane (inferred) 10 10 10 p12.31 19077832 19709527 + 19337700 20023407 + 19048771 19734478 + 8554872 11329013;16344560;19103277;19591129;20062062;20379614;23251661;23747249 340895 B7ZBP3;B7ZBR1;H0Y3D6;Q5VYJ5;R9WAE9;U5GXS0 ABBA01034517;ABBA01034518;ABBA01034519;ABBA01034520;ABBA01034521;ABBA01034522;ABBA01034523;ABBA01034524;ABBA01034525;ABBA01034526;ABBA01034527;ABBA01034528;ABBA01034529;ABBA01034530;AK297683;AL157895;AL354695;AL357520;AL391992;AL450470;AL589943;AL590378;AMYH02022388;AMYH02022389;AMYH02022390;AMYH02022391;AMYH02022392;AMYH02022393;AMYH02022394;AMYH02022395;AMYH02022396;AMYH02022397;AMYH02022398;AMYH02022399;AMYH02022400;AMYH02022401;AMYH02022402;BG192521;DB087413;KC843478;KF455210;NM_001142308 AGN95661;BAG60043;NP_001135780;Q5VYJ5 Hs.646734 1298189;1335560;1338165;1342292;1650439;1668992;1669486;1680254;1703274;1704480;1728295;1728415;1754203;1755441;1755565;1756727;1764395;2167652;2174430;2179653;5015947;5105665 D10S1125;D10S1423;D10S1574;D10S2336;D10S2474;D10S466;D10S518;ECD22897;G10494;G15902;G17464;G63429;G63642;RH92837;SHGC-132236;SHGC-142269;SHGC-142311;SHGC-142420;SHGC-143838;SHGC-147985;SHGC-68251;SHGC-82987 C10orf112;DIET1;FLJ60310;bA265G8.2 MAM and LDL-receptor class A domain-containing protein 1;MAM and LDL-receptor class A domain-containing protein C10orf112;MAM and LDL-receptor class A domain-containing protein C10orf112-like;OTTHUMP00000209453;novel MAM domain containing protein APPROVED protein-coding ENSG00000204740 HGNC:24331 PROVISIONAL 8655838 MAN1A2P1 mannosidase, alpha, class 1A, member 2 pseudogene 1 19 19 19 q12 25983742 25985803 - 29281717 29283778 - 28790810 28792871 - 100129507 ABBA01039527;AC008530;AC016046;AC090428;AMYH02035866;NG_021747 pseudo HGNC:50488 INFERRED 7246026 MAN1B1-AS1 MAN1B1 antisense RNA 1 (head to head) 9 9 9 q34.3 110492857 110494721 - 139979398 139981269 - 137084946 137086817 - 11181995;12477932;14702039 100289341 ABBA01022740;AK023312;AL807752;AMYH02021922;AX882830;BC020858;BC032375;CH471090;NG_031978;NR_027447 AAH20858;CAE91746;EAW88344 Hs.593896 5022651;5109281 D11S2921;D1S1425 ncrna HGNC:48715 VALIDATED 1320278 MAN1A2 mannosidase, alpha, class 1A, member 2 Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008] 1 1 1 p13 116138692 116296183 + 117910085 118068320 + 117367393 117528872 + 1580863;6480464;6907045 10915796;11530211;12477932;12560567;14702039;15231748;15489334;16344560;16710414;1736542;18029348;18987618;19199708;19850743;19946888;20379614;2187500;2283726;2355006;2541446;2542563;2649653;2829950;3099781;3264072;8093218;8218172;8673525;8892864;9109416;9592125 10905 H0Y543;H0Y7H1;O60476;Q5T9E3 ABBA01068501;ABBA01068502;ABBA01068503;AF027156;AF053621;AF053626;AK001970;AK090840;AK098129;AK307842;AL157902;AL358072;AMYH02001799;AMYH02001800;AMYH02001801;AU133800;BC015874;BC052954;BC063300;CH471122;NM_006699;XM_006710302 AAC26169;AAC26200;AAC26201;AAH63300;BAG50997;EAW56675;EAW56676;NP_006690;O60476;XP_006710365 Hs.435938;Hs.602811 1652300;1724587;1760457;1762125;1856414;2128973;2146273;2147495;2151373;2167173;2177119;2184327 D1S1561;D1S2747;D1S3557;D1S3587;G31192;G31193;G31194;RH121290;SHGC-143073;SHGC-146026;SHGC-75382;SHGC-75386 MAN1B OTTHUMP00000013983;alpha-1,2-mannosidase IB;alpha1,2-mannosidase;mannosyl-oligosaccharide 1,2-alpha-mannosidase IB;processing alpha-1,2-mannosidase IB APPROVED protein-coding ENSG00000198162 HGNC:6822 05067 604345 VALIDATED 1312980 MAMDC2 MAM domain containing 2 ENCODES a protein that exhibits glycosaminoglycan binding (inferred); INVOLVED IN peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH 5-fluorouracil; 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene 9 9 9 q21.12 43248875 43432272 + 72658435 72841899 + 70043581 70226972 + 737633;6480464 12477932 11076863;11256614;15164053;15489334;15489336;16381901;20379614 256691 Q7Z304 ABBA01033820;AC212493;AK304040;AK304531;AL158153;AL392044;AMYH02020949;AMYH02020950;AMYH02020951;BC015417;BC016383;BC040299;BC045569;BC063634;BX538309;CH471089;CS083249;NM_153267;NR_125850 AAH15417;AAH16383;AAH63634;BAG64951;BAG65332;CAD98089;CAI96011;CAL37645;EAW62493;EAW62494;EAW62495;EAW62496;EAW62497;NP_694999;Q7Z304 Hs.547172 1648057;1649861;1661241;1708416;1710510;1787084;2154431;2163636;5117184 D9S1077;D9S1999;GDB:451646;RH47183;SHGC-12216;SHGC-154936;SHGC-83496;SHGC-86281;STS-N33222 MGC21981 MAM domain containing 1;MAM domain-containing protein 2;MAM domain-containing proteoglycan;OTTHUMP00000021440;mamcan protein-coding ENSG00000165072 HGNC:23673 14353 612879 VALIDATED 1320140 MAN1C1 mannosidase, alpha, class 1C, member 1 ENCODES a protein that exhibits calcium ion binding (inferred); mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); metabolic process (inferred); post-translational protein modification (inferred); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; N-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; aflatoxin B1; benzo[a]pyrene 1 1 1 p35 24340032 24507337 + 25943959 26111258 + 25617468 25786207 + 1580863;6480464;6907045;8554872 10915796;11530211;12477932;12560567;15231748;16344560;16710414;16964243;1736542;17727818;20379614;2187500;2283726;2355006;2406237;2541446;2542563;2649653;2829950;3099781;3264072;8093218;8218172;8673525;8889548;8892864;9109416 57134 A6NGN6;B1AJZ5;Q59G34;Q9NR34 AB209275;ABBA01017762;ABBA01017763;ABBA01017764;ABBA01017765;ABBA01017766;ABBA01034885;AF261655;AK128560;AL020996;AL031280;AL049274;AMYH02000544;AMYH02000545;AMYH02000546;BC038959;BC137017;CH471059;DA068812;KF495901;NM_001289010;NM_020379;XM_005245945 AAF97058;AAI37018;BAD92512;EAX07870;EAX07871;NP_001275939;NP_065112;Q9NR34;XP_005246002 Hs.197043 1733094;1733162;1751513;1772122;1776455;2135157;2146314;2147843;2170631;5015961;5017516;5020948;5037552 A005U19;D15S1477;D1S1427;D1S1468;D8S2279;G35510;MAN1C1;RH36069;RH36124;SHGC-105318;SHGC-37693;SHGC-74415;WI-14148 HMIC;MAN1A3;MAN1C;pp6318 1,2-alpha-mannosidase IC;OTTHUMP00000004643;OTTHUMP00000004644;OTTHUMP00000004645;mannosyl-oligosaccharide 1,2-alpha-mannosidase IC;processing alpha-1,2-mannosidase IC protein-coding ENSG00000117643 HGNC:19080 14354 VALIDATED 1322054 MAN1A1 mannosidase, alpha, class 1A, member 1 This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012] 6 6 6 q22 120243528 120415211 - 119498366 119671774 - 119177201 119350605 - 1580863;6480464;6907045;8554872 10409699;10521544;10915796;11530211;12477932;12560567;14574404;15308636;16344560;1736542;17727818;18215327;18217416;18314154;18330979;18854154;19056867;19258393;19946888;20379614;21577142;2187500;2283726;2355006;2406237;2541446;2542563;2649653;2829950;3099781;3264072;7588811;8093218;8218172;8223597;8673525;8892864;9109416;9219526;9592125 4121 P33908 ABBA01026018;ABBA01026019;AK024588;AK025599;AK307383;AL022722;AL078600;AL138886;AMYH02014380;AMYH02014381;AMYH02014382;BC065827;BQ008013;CH471051;DA981556;NM_005907;XM_005266986 AAH65827;EAW48185;EAW48186;EAW48187;NP_005898;P33908;XP_005267043 Hs.102788;Hs.742378 1338670;1341107;1653158;1654182;1682359;1710024;1722511;1761157;2148454;2155652;2170639;2179131;7186419;7186537 D6S1696;D6S287;G60180;RH37584;RH46080;RH68575;RH68722;RH92665;SHGC-145161;SHGC-82286;STS-X74837;WI-7313 HUMM3;HUMM9;MAN9 Man9-mannosidase;OTTHUMP00000017107;alpha-1,2-mannosidase IA;man(9)-alpha-mannosidase;mannosyl-oligosaccharide 1,2-alpha-mannosidase IA;processing alpha-1,2-mannosidase IA APPROVED protein-coding ENSG00000111885 HGNC:6821 05066 604344 REVIEWED 735705 MAN2A1 mannosidase, alpha, class 2A, member 1 This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013] 5 5 5 q21.3 104964014 105143634 + 109025156 109203429 + 109689366 109869625 + 1580863;6480464;6907045 11158608;11530211;12477932;12560567;15004235;16335952;16435400;1736542;17466984;1757461;18174230;18215327;18314154;18330979;1885615;19056867;19277980;19465480;19946888;20189245;20379614;20512086;2187500;2217175;2283726;22939629;23535033;2355006;2541446;2542563;2649653;2829950;3099781;3264072;3922977;8093218;8218172;8314846;8524845;8673525;8892864;9109416;9230311;9472029 4124 Q16706;Q49A69 ABBA01069083;ABBA01069084;ABBA01069085;ABBA01069086;ABBA01069087;AC008417;AC011366;AC012603;AK314090;AL833486;AMYH02011957;BC031659;BC043416;BC111062;BC142656;BC142696;BX341412;BX643508;CH471086;CR936691;D63998;KF457972;NM_002372;U31520;XM_006714616 AAC50302;AAH43416;AAI42657;AAI42697;BAA10017;EAW49048;NP_002363;Q16706;XP_006714679 Hs.432822 1654902;1657099;1663047;1667207;1735564;1785412;1785668;1785698;2110507;2116192;2120629;2172259;2184957;5037746;5093086 A005D24;A009F34;D1S3696;D5S1681E;D5S2496;G32511;MAN2A1_8458;RH17531;SGC32412;SGC35577;SHGC-144534;SHGC-68501;SHGC-79229;STS-W86997;WI-18306 AMan II;GOLIM7;MANA2;MANII;man II Golgi alpha-mannosidase II;OTTHUMP00000222794;alpha-mannosidase 2;golgi integral membrane protein 7;mannosidase 2, alpha 1;mannosidase, alpha type II;mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase APPROVED protein-coding HGNC:6824 01110 154582 REVIEWED 1347467 MAN1B1 mannosidase, alpha, class 1B, member 1 This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011] 9 9 9 q34 110494869 110517868 + 139981379 140003639 + 137086862 137109187 + 1580863;6480464;6907045;8699517;7240710;8554872 10409699;10521544;10995765;11530211;12090241;12477932;12560567;12736254;12815101;12829701;12975309;14702039;15164053;15489334;15713668;15785934;16303743;16341674;16344560;1736542;17727818;18003979;18303019;18619586;19444872;19739260;20301507;20643940;21145461;21697506;21763484;2187500;21900206;21906983;21987572;2283726;23427261;2355006;23940818;2406237;24250222;24348268;24566669;2541446;2542563;2649653;2829950;3099781;3264072;8093218;8218172;8673525;8892864;9109416;9592125 11253 B3KQC5;H0YFU3;H0YG20;H0YGQ1;H0YGV7;H0YI64;H0YIU0;Q9UKM7 AB209276;ABBA01022740;ABBA01022741;ABBA01022742;AF145732;AF148509;AI312031;AK074559;AK074699;AK094878;AK126926;AK127005;AK128033;AK128257;AK128341;AK130143;AK298480;AK299043;AK309808;AK315797;AL110221;AL807752;AL929554;AMYH02021922;AY358465;BC002953;BC006079;BE731944;BM848429;BQ448144;CH471090;CR749534;DA763005;NG_031978;NM_016219;NR_045720;NR_045721;XM_006716945;XM_006716946 AAD45504;AAF03215;AAH02953;AAH06079;AAQ88830;ABM82787;ABM85976;BAC11060;BAD92513;BAG51987;BAG54653;BAG54664;BAG60691;BAG61117;CAB53680;CAH18340;EAW88345;EAW88346;EAW88347;NP_057303;Q9UKM7;XP_006717008;XP_006717009 Hs.279881 1712206;5037552 D8S2279;G54155 ERMan1;FLJ37559;MANA-ER;MRT15 ER alpha 1,2-mannosidase;ER alpha-1,2-mannosidase;ER mannosidase 1;Man9GlcNAc2-specific processing alpha-mannosidase;OTTHUMP00000022681;OTTHUMP00000237863;OTTHUMP00000237864;alpha 1,2-mannosidase;endoplasmic reticulum alpha-mannosidase 1;endoplasmic reticulum alpha-mannosidase I;endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase;endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1;man9GlcNAc2-specific-processing alpha-mannosidase APPROVED protein-coding ENSG00000177239 HGNC:6823 05068 604346;614202 REVIEWED 1321024 MAN2A2 mannosidase, alpha, class 2A, member 2 ENCODES a protein that exhibits alpha-mannosidase activity (inferred); carbohydrate binding (inferred); hydrolase activity, hydrolyzing N-glycosyl compounds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); cellular protein metabolic process (inferred); mannose metabolic process (inferred); PARTICIPATES IN N-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; potassium chromate 15 15 15 q26.1 67856382 67874776 + 91447420 91465815 + 90902218 90922585 + 1580863;6480464;6907045;8554872 11530211;12477932;12560567;14759258;16169070;1736542;18215327;18314154;18330979;18839057;2187500;22268729;2283726;2355006;24250222;2541446;2542563;2649653;2829950;3099781;3264072;8093218;8218172;8524845;8673525;8892864;9109416 4122 B4DEU9;B4DRE0;H0YK77;H0YKH9;H0YKM7;H0YKQ2;H0YKT0;H0YL67;H0YLB9;H0YLL4;H0YLU3;H0YML7;H0YMU0;H0YNC8;H0YNG5;P49641;Q9P1E4 ABBA01053070;AC067986;AC068831;AF116691;AI361497;AI697595;AK289863;AK293799;AK295646;AK299213;AK308838;AK316150;AL110288;AL832306;AMYH02031054;BC136448;BC144111;CA442098;CH471101;D55649;L28821;NM_006122;XM_005254910;XM_005254911;XM_006720507;XR_243208 AAA92022;AAF71111;AAI36449;BAA09510;BAF82552;BAG57210;BAG58516;BAG61252;BAH14521;EAX02118;EAX02119;EAX02120;EAX02121;EAX02122;EAX02123;EAX02124;NP_006113;P49641;XP_005254967;XP_005254968;XP_006720570 Hs.116459 1696710;1712178;1733402;2107309;2112958;2113154;2113162;2113164;2113172;2173163;5023387 D15S1173;D15S1434E;D15S1482;D15S1488;D15S1491;D15S1496;D15S545;G54140;MAN2A2__7365;SHGC-83061;STS-T97988 MANA2X MAN IIx;alpha-mannosidase 2x;alpha-mannosidase IIx;mannosidase, alpha type II-X;mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase;manosidase, alpha-, type II, isozyme X protein-coding ENSG00000196547 HGNC:6825 02994 600988 VALIDATED 733679 MAN2C1 mannosidase, alpha, class 2C, member 1 ENCODES a protein that exhibits alpha-mannosidase activity (inferred); carbohydrate binding (inferred); zinc ion binding (inferred); INVOLVED IN mannose metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 2-methylcholine; atrazine 15 15 15 q24.2 52574572 52587381 - 75648133 75661455 - 75355792 75369114 - 1580863;6480464;8554872 11230166;11530211;12477932;12560567;12643454;14667819;15231747;15489334;16721356;17081983;1736542;1757461;18215327;18314154;18330979;19018777;19572206;20978011;21508515;21556061;2187500;21890473;21906983;2283726;22990118;23486476;2355006;2420791;2541446;2542563;2649653;2829950;3099781;3264072;3709545;396129;752528;8093218;8125298;8218172;8452531;8673525;8892864;9109416 4123 B4DH23;H3BMJ3;H3BQH9;H3BQJ2;H3BRI3;H3BRV3;H3BSE5;H3BUW3;Q9NTJ4 AB209141;ABBA01060522;AC068338;AF044414;AK225145;AK294892;AK295265;AK311065;AL136876;AMYH02030814;BC010081;BC038594;BC050550;BC080191;BM151712;BX647111;CH471136;DC342919;NM_001256494;NM_001256495;NM_001256496;NM_006715;U37248;XM_005254384;XM_006720508 AAC00190;AAC00568;AAH50550;AAH80191;BAD92378;BAG57984;BAG58253;CAB66810;EAW99252;EAW99253;EAW99254;NP_001243423;NP_001243424;NP_001243425;NP_006706;Q9NTJ4;XP_005254441;XP_006720571 Hs.26232;Hs.598731 1646966;1687327;5014051;5015619;5021728;5022200;5022578;5037552 D11S3114;D1S1423;D8S2278;D8S2279;L18426;RH91923;WI-12510;rs1128933 DKFZp686E23167;MAN6A8;MANA;MANA1;MGC87979 alpha mannosidase 6A8B;alpha-D-mannoside mannohydrolase;alpha-mannosidase 2C1;mannosidase, alpha 6A8;mannosidase, alpha A, cytoplasmic protein-coding ENSG00000140400 HGNC:6827 01109 154580 VALIDATED 1348586 MAN2B1 mannosidase, alpha, class 2B, member 1 This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] 19 19 19 p13.2 12647038 12667305 - 12757322 12777591 - 12646508 12666777 - 1580863;6480464;7240710;8554872;8699517 11530211;12477932;12560567;12718372;12754519;15231748;15489334;15712269;16344560;1736542;18215327;18314154;18330979;18816836;19722277;20301570;20800603;2187500;22268729;2283726;22863883;22939629;23449646;2355006;23739915;24383474;24816145;2541446;2542563;2649653;2829950;3034518;3099781;3264072;7832746;8093218;8166692;821469;8218172;848490;8673525;8889548;8892864;8910458;9109416;9158146;9192839;9758606;9915946 4125 A8K6A7;M0QXY0;M0QYZ1;M0QZG6;M0R174;O00754 AB209921;ABBA01029783;ABBA01029784;ABBA01029785;AC010422;AK291572;AK303418;AMYH02035550;AU127707;AU128464;AW172353;BC000736;BI828908;BM147968;BM982008;BU659731;CH471106;DB237901;NG_008318;NM_000528;NM_001173498;U05572;U60266;U60885;U60886;U60887;U60888;U60889;U60890;U60891;U60892;U60893;U60894;U60895;U60896;U60897;U60898;U60899;U68382;U68567;XM_005259913 AAB03816;AAC34130;AAC50811;AAC50812;AAC51362;AAH00736;ABM82804;ABM85992;BAD93158;BAF84261;BAG64471;EAW84279;EAW84280;EAW84281;NP_000519;NP_001166969;O00754;XP_005259970 Hs.356769;Hs.657204 1743445;1846954;2119630 GDB:335318;NIB1927;WI-18725 MANB LAMAN;OTTHUMP00000209823;OTTHUMP00000209824;lysosomal acid alpha-mannosidase;lysosomal alpha-mannosidase;mannosidase alpha-B;mannosidase, alpha B, lysosomal APPROVED protein-coding ENSG00000104774 HGNC:6826 02007 248500;609458 REVIEWED 1353697 MANBB mannosidase, beta B, soluble 4127 HGNC:6832 5687775 MANEA-AS1 MANEA antisense RNA 1 (head to head) 6 6 q16.1 96007676 96025317 - 95560096 95577451 - 12477932 101927288 ABBA01014533;AL671884;AMYH02014149;BC047582;CR736359;HY091097;NR_047502;NR_104136 Hs.616643;Hs.738875 APPROVED ncrna ENSG00000261366 HGNC:43732 VALIDATED 1604520 MANEAL mannosidase, endo-alpha-like ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; afimoxifene; all-trans-retinoic acid 1 1 1 p34.3 36537598 36545102 + 38259721 38267278 + 37794049 37801606 + 6480464 12477932;14702039;15489334;16710414 149175 E9PMU5;H0YCZ3;Q5VSG8 AB188490;ABBA01023263;ABBA01023264;AK055996;AK301399;AL929472;AMYH02000803;BC009952;BC031903;BC038190;BC063587;BC077730;BM312572;CH471059;NM_001031740;NM_001113482;NM_152496;XM_005270510 AAH09952;AAH31903;AAH63587;AAH77730;BAB71068;BAG62934;EAX07319;EAX07320;NP_001026910;NP_001106954;NP_689709;Q5VSG8;XP_005270567 Hs.534562;Hs.706404 2132744;2177213;5014051;5016478;5021872;5022200;5037552 Cda0ha06;D1S2368;D8S2278;D8S2279;GDB:434012;L18426;sY3084 FLJ31434;MGC78681;RP11-109P14.3 OTTHUMP00000004509;OTTHUMP00000004510;OTTHUMP00000232298;OTTHUMP00000232299;OTTHUMP00000232300;glycoprotein endo-alpha-1,2-mannosidase-like protein protein-coding ENSG00000185090 HGNC:26452 08713 VALIDATED 1314025 MANBA mannosidase, beta A, lysosomal This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008] 4 4 4 q24 100851923 100981403 - 103552643 103682151 - 102631486 102760994 - 1580863;6480464;7240710;8554872;8699517 11530211;12477932;12560567;15489334;16344560;1736542;17899454;18215327;18314154;18330979;18854154;19728872;19773279;20332099;20800603;21833088;2187500;22268729;2283726;23128233;2355006;2541446;2542563;2649653;2829950;3099781;3264072;7876128;8093218;8218172;8285582;8673525;8892864;9109416;9384606 4126 D6RA01;E9PFW2;O00462 AB209846;ABBA01063701;ABBA01063702;AC018797;AF213884;AI079197;AK291598;AK300015;AK312827;AMYH02009817;AMYH02009818;AMYH02009819;AU132611;BC015743;CH471057;EU009130;KF454940;NG_012804;NM_005908;U60337 AAC39573;AAF35233;AAH15743;ABS29701;BAD93083;BAF84287;BAG61830;EAX06137;NP_005899;O00462 Hs.480415 1341874;1726383;1766191;1852666;2121199;2165388;2170865;2174686 2010;A001Z33;D4S1070;D4S3043;G62492;RH36011;SHGC-149558;SHGC-16519 MANB1 OTTHUMP00000161766;OTTHUMP00000219645;beta-mannosidase;lysosomal beta A mannosidase;mannanase;mannase APPROVED protein-coding ENSG00000109323 HGNC:6831 02008 248510;609489 REVIEWED 1318845 MAN2B2 mannosidase, alpha, class 2B, member 2 ENCODES a protein that exhibits alpha-mannosidase activity (inferred); carbohydrate binding (inferred); zinc ion binding (inferred); INVOLVED IN mannose metabolic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; cisplatin 4 4 4 p16.1 6478589 6525854 + 6576902 6624188 + 6575175 6622461 + 1580863;6480464 10231032;10407159;11530211;12477932;12560567;15489334;15815621;16115860;16303743;1736542;19460752;19722277;20379614;20800603;2187500;21906983;22268729;2283726;2355006;2541446;2542563;2649653;2829950;3099781;3264072;8093218;8218172;8673525;8889548;8892864;9109416;9425289 23324 E9PCD7;H0YA68;Q05BN7;Q9Y2E5 AA453331;AB023152;ABBA01012723;ABBA01012724;ABBA01012725;ABBA01012726;AC093323;AK025803;AK075246;AK301473;AL832232;AL833071;AMYH02008670;AMYH02008671;BC033307;BC036836;BC094773;BE243063;BM146210;BM730115;BX350248;CF135581;CH471131;NM_001292038;NM_015274;XR_241647 AAH33307;AAH36836;AAH94773;BAA76779;BAG52093;BAH13490;CAD89971;EAW82389;EAW82390;EAW82391;EAW82392;NP_001278967;NP_056089;Q9Y2E5 Hs.188464 1648951;1671825;1680411;1684401;1777165;2133496;2133498;2136739;2183883;5022578 A005V09;D1S1423;G20529;G33597;RH40651;RH64841;SHGC-24717;SHGC-59610;SHGC-59768;WI-20841 KIAA0935 OTTHUMP00000217460;OTTHUMP00000217558;OTTHUMP00000217559;core-specific lysosomal alpha-1,6-Mannosidase;epididymis-specific alpha-mannosidase protein-coding ENSG00000013288 HGNC:29623 14355 VALIDATED 1353788 MANBAL mannosidase, beta A, lysosomal-like FOUND IN integral component of membrane (inferred); INTERACTS WITH benzene; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 20 20 20 q11.23 32625331 32652944 + 35918051 35945663 + 37289648 37317260 + 1580863;6480464 11780052;12477932;15489334;17207965;19322201;21078624 63905 A2A2E0;Q9NQG1 ABBA01006617;AK026708;AK292971;AL034422;AMYH02037045;AV753915;BC014672;BC016822;BI754866;BQ051237;CH471077;NM_001003897;NM_022077 AAH14672;AAH16822;ACE87014;ACE87702;ADQ32409;BAF85660;EAW76068;EAW76069;EAW76070;EAW76071;NP_001003897;NP_071360;Q9NQG1 Hs.6126 1668384;2165388 A001Z33;AL031195 OTTHUMP00000030917;OTTHUMP00000030918;OTTHUMP00000178824;OTTHUMP00000178825 protein-coding ENSG00000101363 HGNC:15799 14356 VALIDATED 1353615 MANSC1 MANSC domain containing 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 12 12 12 p13.2 17625840 17646790 - 12482195 12503475 - 12329284 12350235 - 737633;6480464 12477932 12975309;14702039;15489334;18029348 54682 F5H3M3;F5H6G8;Q9H8J5 ABBA01067835;ABBA01067836;ABBA01067837;ABBA01067838;ABBA01067839;AC007621;AK001160;AK023622;AK298681;AMYH02026057;AX876122;AY358563;BC032998;CH471094;NM_018050 AAH32998;AAQ88926;ABZ92341;BAA91526;BAB14621;BAG60844;CAE89131;EAW96254;EAW96255;NP_060520;Q9H8J5 Hs.591145 1671500;1754427;2110509;2132846;5015619;5015961;5022322;5037552 D11S2560;D11S3114;D15S1477;D8S2279;G41289;MANSC1__7367;SHGC-132467;SHGC-32457 9130403P13Rik;FLJ10298;LOH12CR3 MANSC domain-containing protein 1;OTTHUMP00000238984;OTTHUMP00000238985;loss of heterozygosity 12 chromosomal region 3 protein protein-coding ENSG00000111261 HGNC:25505 10067 VALIDATED 1345544 MANEA mannosidase, endo-alpha N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008] 6 6 6 q16.1 96666751 96698498 + 96025373 96057333 + 95577497 95609457 + 6480464 11076863;11230166;11530211;12477932;12560567;14574404;14702039;15489336;15677381;15760709;16381901;16696976;16733250;1736542;18029348;18438686;19255376;20379614;2187500;24250222;24816145;2541446;2542563;2649653;2829950;3099781;3264072;8093218;8673525;9109416;9361017 79694 Q5SRI9;X6R7A2 ABBA01014533;AJ577574;AK022900;AK291940;AL671884;AMYH02014149;AMYH02014150;AY048774;AY048775;AY372528;BC137014;BC137016;BC146671;BC150199;BQ018032;BX481372;BX537398;BX640869;CR936827;NM_024641;XM_005267147 AAI37015;AAI37017;AAI46672;AAI46690;AAI50200;AAL07306;AAL07307;AAQ75077;BAB14298;BAF84629;CAD97640;CAE12165;CAE45927;CAL37750;CAL38349;NP_078917;Q5SRI9;XP_005267204 Hs.734632;Hs.743412 DKFZp686D20120;ENDO;FLJ12838 OTTHUMP00000017907;alpha 1,2-endomannosidase;endo-alpha mannosidase;endomannosidase;glycoprotein endo-alpha-1,2-mannosidase;hEndo;mandaselin APPROVED protein-coding ENSG00000172469 HGNC:21072 14357 612327 VALIDATED 1316336 MANF mesencephalic astrocyte-derived neurotrophic factor The protein encoded by this gene is localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and results in cell proliferation. Activity of this protein is important in promoting the survival of dopaminergic neurons. The presence of polymorphisms in the N-terminal arginine-rich region, including a specific mutation that changes an ATG start codon to AGG, have been reported in a variety of solid tumors; however, these polymorphisms were later shown to exist in normal tissues and are thus no longer thought to be tumor-related. [provided by RefSeq, Apr 2014] 3 3 3 p21.1 51397046 51401182 + 51422692 51426828 + 51385261 51389397 + 1599219;1599220;2325804;2317157;2325813;2325809;6480464 17072959;19641128;19773801;8649854;8971156;9174057 10767373;12477932;12665801;12794311;14699964;15146197;15489334;16462600;18561914;18718866;19258449;19399876;20186704;20685313;21047780;21139048;21890473;23000965;23255601;23956175;24583282;24816145;9230196 7873 A8K878;H7C2D6;P55145 ABBA01024531;AC092037;AK292243;AMYH02006783;BC007282;BC033055;BC113588;BC113590;BE514267;BT007110;CH471055;CN410909;CN410911;CQ834850;KF459625;M83751;NG_012652;NM_006010 AAB08753;AAH07282;AAI13589;AAI13591;AAP35774;ACE87065;ACE87746;BAF84932;CAH05640;EAW65138;NP_006001;P55145 Hs.436446 1657694;1712535;1739313;1740223;1778846;2129517;2136519 D17914;D3S1679;D3S3306E;D3S4001;RH12752;RH1498;SGC32878 ARP;MGC142148;MGC142150 ARMET;OTTHUMP00000210954;arginine-rich, mutated in early stage tumors APPROVED protein-coding ENSG00000145050 HGNC:15461 03558 601916 REVIEWED 5132067 MANSC4 MANSC domain containing 4 FOUND IN integral component of membrane (inferred) 12 12 12 p11.22 33061159 33069766 - 27915599 27924209 - 27762666 27771406 - 16541075 100287284 A6NHS7 ABBA01068050;AC009509;AMYH02026247;CH471094;NM_001146221;XM_006719024 A6NHS7;EAW96569;NP_001139693;XP_006719087 Hs.202178 1648977 D12S2104 MANSC domain-containing protein 4;MANSC domain-containing protein ENSP00000370673;OTTHUMP00000240425 protein-coding ENSG00000205693 HGNC:40023 PROVISIONAL 1347480 MAP1LC3A microtubule-associated protein 1 light chain 3 alpha MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. The expression of variant 1 is suppressed in many tumor cell lines, suggesting that may be involved in carcinogenesis. [provided by RefSeq, Feb 2012] 20 20 20 q11.22 29883843 29897277 + 33134688 33148149 + 34546884 34560345 + 1580863;1643329;1643198;4890444;6480464 15325588;17665967;20562859 11076863;11096062;11230166;11278895;11780052;12477932;12740394;15187094;15213446;15342556;15383276;15489334;15489336;15857831;16169070;16286508;16303767;16341674;16381901;16704426;17102583;17438365;17580304;17804493;18448665;18653543;18688877;18695874;19056683;19250911;19322194;19427866;19623642;19696020;19812190;19820708;19838173;20004946;20010802;20023420;20061800;20153330;20168092;20204693;20352102;20382705;20398630;20417604;20479004;20495340;20505359;20529957;20639871;20713600;20937856;21045561;21048031;21262964;21316776;21412173;21415575;21460636;21497758;21507968;21537144;21556768;21617041;21628531;21674156;21684337;21709020;21729531;21812771;21832049;21845828;21909394;21935636;21943220;21988832;22011618;2212989;22237724;22249245;22281431;22328508;22354992;22411133;22421968;22505714;22647537;22648564;22714671;22728060;22963397;22974335;23043107;23089287;23209295;23219390;23239879;23333394;23345115;23376921;23434281;23449484;23459205;23602568;23624503;23632916;23681079;23752596;23787295;23956998;23989536;24023838;24067654;24070620;24100292;24186908;24282606;24290141;24404161;24440703;24528869;24619419;2470876;24998849;25026213;25042851;7908909;8833088;8997639 84557 Q9H492 ABBA01019191;ABBA01019192;AF276658;AL118520;AL833855;AMYH02036980;BC015810;BM740344;BM919877;BP212418;BT007452;CH471077;EL954540;H18312;NM_032514;NM_181509;XM_005260577 AAH15810;AAK35151;AAP36120;ABM84567;ABM86462;CAD38714;CAL37468;EAW76263;EAW76264;EAW76265;EAW76266;NP_115903;NP_852610;Q9H492;XP_005260634 Hs.632273 1774439;5017951 Map1lc3a;RH46990 ATG8E;LC3;LC3A;MAP1ALC3;MAP1BLC3 MAP1 light chain 3-like protein 1;MAP1A/1B light chain 3 A;MAP1A/MAP1B LC3 A;MAP1A/MAP1B light chain 3 A;OTTHUMP00000030696;OTTHUMP00000030697;OTTHUMP00000030698;autophagy-related protein LC3 A;autophagy-related ubiquitin-like modifier LC3 A;microtubule-associated proteins 1A/1B light chain 3;microtubule-associated proteins 1A/1B light chain 3A APPROVED protein-coding ENSG00000101460 HGNC:6838 03144 601242 REVIEWED 1607026 MAP10 microtubule-associated protein 10 ENCODES a protein that exhibits microtubule binding; INVOLVED IN cytoplasmic microtubule organization; positive regulation of cytokinesis; regulation of microtubule-based process; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; cytoplasmic microtubule; midbody 1 1 1 q42.2 206211063 206216517 + 232940638 232946092 + 232804892 232810346 + 8554872 10718198;12477932;15489334;16710414;17081983;23264731 54627 Q9P2G4 AB037804;ABBA01033067;AK290216;AL451083;AMYH02002911;BC036663;BC109122;CH471098;NM_019090 AAH36663;AAI09123;BAA92621;BAF82905;EAW69975;NP_061963;Q9P2G4 Hs.160373 FLJ75125;KIAA1383;MGC126467;MTR120 OTTHUMP00000035938;hypothetical protein LOC54627;microtubule regulator 120 KDa;microtubule regulator of 120 KDa;uncharacterized protein KIAA1383 APPROVED protein-coding HGNC:29265 VALIDATED 2301276 MAP1LC3B2 microtubule-associated protein 1 light chain 3 beta 2 INVOLVED IN autophagy (inferred); FOUND IN cytoplasmic vesicle (inferred); membrane (inferred); microtubule (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 12 12 12 q24.22 116626684 116643942 + 116997186 117014425 + 116559381 116576620 + 6480464 16541075;19684603;21139048;21890473;24816145 643246 A6NCE7 ABBA01020013;AC090670;AC125603;AMYH02027293;AMYH02027294;CH471054;NM_001085481 A6NCE7;AAI56863;EAW98085;NP_001078950 Hs.506947 1683399 RH70752 ATG8G Microtubule-associated proteins 1A/1B light chain 3B-like protein;microtubule-associated protein 1 light chain 3 beta-like;microtubule-associated proteins 1A/1B light chain 3 beta 2 protein-coding HGNC:34390 PROVISIONAL 1350223 MAP1LC3B microtubule-associated protein 1 light chain 3 beta The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008] 16 16 16 q24.2 71722569 71735146 + 87423157 87438380 + 87389551 87404774 + 1580863;1643329;4890444;6480464 15325588;20562859 11060023;11076863;11256614;11825910;11890701;12477932;12740394;12932674;14702039;14713272;15187094;15231747;15355958;15489334;15489336;16169070;16189514;16303767;16344560;16381901;18083104;18184459;19250911;19623642;20010802;20038797;20863706;20889906;21099673;21383079;21617041;21890473;21900206;21988832;22056771;22080440;22095627;2212989;22170153;22174682;22354992;22434781;22472876;22482402;22496786;22948227;22963397;23043107;23209295;23209807;23333919;23371253;23429496;23721406;23787295;23805866;23935917;24023838;24141623;24220335;24250222;24288667;24566975;24582747;24816145;24879152;25007327;8997639 81631 H3BM99;H3BTE7;H3BTL1;H6UMI0;Q49A36;Q658J6;Q9GZQ8 ABBA01034328;ABBA01034329;ABBA01034330;AC010531;AF087871;AF183417;AF303888;AK024571;AK025556;AK290956;AK310224;AK310335;AL834298;AMYH02032614;AMYH02032615;BC018634;BC041874;BC045759;BC048009;BC067797;BG771621;CH471114;DA577457;DB055844;JN663879;NG_029030;NM_022818;XM_005256184 AAG09686;AAG23182;AAH18634;AAH41874;AAH45759;AAH67797;AAM10499;ABM84078;ABM87447;AEZ06292;BAB15169;BAF83645;CAD38970;CAL38438;EAW95392;EAW95393;EAW95394;EAW95395;EAW95396;EAW95397;EAW95398;EAW95399;NP_073729;Q9GZQ8;XP_005256241 Hs.356061 1683399;1702692;1744885;2158083;5122918 D16F298S2;D16S2663;GDB:451550;RH70752;SHGC-60567 ATG8F;LC3B;MAP1A/1BLC3;MAP1LC3B-a MAP1 light chain 3-like protein 2;MAP1A/MAP1B LC3 B;MAP1A/MAP1B light chain 3 B;OTTHUMP00000175009;autophagy-related protein LC3 B;autophagy-related ubiquitin-like modifier LC3 B;microtubule-associated proteins 1A/1B light chain 3;microtubule-associated proteins 1A/1B light chain 3B APPROVED protein-coding ENSG00000140941 HGNC:13352 14358 609604 REVIEWED 733041 MAP1B microtubule-associated protein 1B This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008] 5 5 5 q13 67298553 67400783 + 71403118 71505397 + 72107291 72209570 + 737795;1580863;2304029;2304042;2304007;2304015;2304062;6480464;6484113;8554872 10906717;11395167;12598335;17880387;3252178;8577753 10764738;10899930;11002287;11102469;11698390;11733546;12147674;12477932;12684070;12689591;12807913;14702039;14760703;15032605;15205320;15345747;15381419;15762842;16014633;16212419;16227972;16478718;16996626;17081983;1712602;17361185;17620599;18063656;18079022;18195017;18656471;1881920;18839057;19054571;19389623;19567321;19615732;20195357;20562859;20719958;21081666;21139048;21145461;21151955;21159966;21508097;21565611;21645326;21890473;22308378;22586326;22779921;23000965;23084401;23184937;23333304;23398456;23402259;23455922;24457600;2470876;24754922;7519512;7806212;7908020;9533556;9570753;9813091;9892354 4131 D6RA32;D6RA40;D6RCL2;D6RGJ3;P46821;Q6PJD3;Q86X89 ABBA01061901;ABBA01061902;AC012609;AC093218;AF085863;AK055112;AK096273;AK125194;AK307990;AK308147;AMYH02011551;AMYH02011552;BC017240;BC025240;BC032516;BC033486;BC039822;BC046114;BC056145;BC062464;BC063669;BC073993;BC094834;BC108733;BC139918;BC141853;BC150196;BN001084;BN001085;BX647077;CA429544;CH471084;CR933720;L06237;L31916;NM_005909;XM_005248507;Y09836 AAA18904;AAH17240;AAH32516;AAH46114;AAH94834;AAI08734;AAI39919;AAI41854;AAI50197;AAI72388;CAI46250;CAM06633;CAM12311;EAW95696;EAW95697;EAW95698;EAW95699;EAW95700;NP_005900;P46821;XP_005248564 Hs.335079 1649865;1658395;1715263;1730163;1742271;1745953;1771827;1779846;2110937;2111125;2117035;2134788;2139814;2146277;2146367;2168132;2178136 AFMB332XE9;D5S1491;D5S1639E;D5S2382;D5S451E;D5S522E;D5S572E;FB10E8;G10477;GDB:194651;RH119882;RH12515;RH78085;SHGC-153845;WI-16218;WI-19293;X51396 DKFZp686E1099;DKFZp686F1345;FLJ38954;FUTSCH;MAP-1B;MAP5;PPP1R102 OTTHUMP00000126944 APPROVED protein-coding ENSG00000131711 HGNC:6836 01139 157129 VALIDATED 736437 MAP1A microtubule-associated protein 1A This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008] 15 15 15 q15.3 20580478 20594490 + 43803165 43823818 + 43510967 43531620 + 1580863;2304042;6480464;8554872 3252178 10747088;11002287;11164566;11278895;11418592;11896150;11925566;12123681;12411430;12477932;12812986;15202935;15231747;15251455;15342556;15591041;15592455;16014633;16478718;16537434;16996626;17081983;18056259;19165527;19251251;20085233;20391533;20467438;20471030;20562859;20936779;21139048;2212989;22779921;2470876;24816145;6142895;7629894;7806212;7820861;7908020;7908909;8812494;8997639;9593747;9786987 4130 E9PGC8;P78559;Q504X9 ABBA01038346;AC018924;AC019011;AF095910;AF200415;AI124707;AK291052;AMYH02030308;AW296788;AW379921;BC010470;BC055312;BC094702;BI756580;BP309709;BQ000917;CH471125;NM_002373;U14577;U38291;U38292;U80458;XM_005254385;Z47035;Z47038 AAA81362;AAB41132;AAB41133;AAD00355;AAF03480;AAF08305;AAH55312;AAH94702;ACX32325;BAF83741;CAA87104;EAW92606;EAW92607;EAW92608;NP_002364;P78559;XP_005254442 Hs.194301;Hs.619338 1660853;1713045;1736814;1736816;1744063;1772718;1799236;1799410;1799412;1800120;1800326;1801220;1801338;1801606;1801670;1805252;1805556;1805818;1806038;1806092;1806294;1806378;1806604;1932568;1932570;1932572;1932574;1932576;1932578;1932580;1932582;1932584;1932586;1932588;1932590;1932592;1932594;1932596;1932598;1932600;1932602;1932604;1932606;1932608;1932610;1932612;1932614;1932616;1932618;1932620;1932622;1932624;1932626;1932628;1932630;1932632;1932634;1932636;1932638;1932640;1932642;1932644;1932646;1932648;1932650;1932652;1932654;1932656;1932658;1932660;1932662;1932664;1932666;1932668;1932670;1932672;1932674;1932676;1932678;1932680;1932682;1932684;1932686;1932688;1932690;1932692;1932694;1932696;1932698;1932700;1932702;1932704;1932706;1932708;1932710;1932712;2111111;2132302;2135538;2173489;2208800;2208802;2208804;2208806;2208808;2208810;2208812;2208814;2208816;2208818;5021686 D15S180E;D15S801;D15S803;ECD00466;ECD00556;ECD00557;ECD00916;ECD01021;ECD01482;ECD01541;ECD01681;ECD01714;ECD03571;ECD03726;ECD03860;ECD03972;ECD03999;ECD04102;ECD04144;ECD04259;GDB:385407;REN37116;REN37117;REN37118;REN37119;REN37120;REN37121;REN37122;REN37123;REN37124;REN37125;REN37126;REN37127;REN37128;REN37129;REN37130;REN37131;REN37132;REN37133;REN37134;REN37135;REN37136;REN37137;REN37138;REN37139;REN37140;REN37141;REN37142;REN37143;REN37144;REN37145;REN37146;REN37147;REN37148;REN37149;REN37150;REN37151;REN37152;REN37153;REN37154;REN37155;REN37156;REN37157;REN37158;REN37159;REN37160;REN37161;REN37162;REN37163;REN37164;REN37165;REN37166;REN37167;REN37168;REN37169;REN37170;REN37171;REN37172;REN37173;REN37174;REN37175;REN37176;REN37177;REN37178;REN37179;REN37180;REN37181;REN37182;REN37183;REN37184;REN37185;REN37186;REN37187;REN37188;RH120306;RH66325;RH79118;STS-T08733;STS-Z47038;WI-19303;ksks17;stSG627748;stSG627750;stSG627751;stSG627752;stSG627753;stSG627754;stSG627755;stSG627756;stSG627757;stSG627758 FLJ77111;MAP-1A;MAP1L;MTAP1A OTTHUMP00000196074;microtubule-associated protein 1 a;microtubule-associated protein 1-like;proliferation-related protein p80 APPROVED protein-coding ENSG00000166963 HGNC:6835 02549 600178 REVIEWED 8548078 MAP1LC3BP1 microtubule-associated protein 1 light chain 3 beta pseudogene 1 9 9 9 p22.1 19386995 19389458 - 19460884 19490506 - 19460886 19463389 - 392288 ABBA01065196;AL158206;AMYH02019264;XM_001716795;XM_006716908;XM_006726472 XP_001716847;XP_006716971;XP_006726535 protein-coding HGNC:49783 MODEL 1350200 MAP1LC3P microtubule-associated protein 1 light chain 3 pseudogene 18 18 18 q21.2 49339207 49339831 + 52621644 52622268 + 54954413 54955037 + 387615 ABBA01056107;AC098848;AMYH02034769;AY389342;NG_004859 HsT312 pseudo HGNC:31004 INFERRED 732580 MAOB monoamine oxidase B The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008] X X X p11.23 47765631 47881481 - 43625857 43741721 - 43766610 43882475 - 1358484;1300048;1580863;2307352;2316771;6480464;6907045;8699517;8554872 17417741;18802767;9129714 10653595;11049757;11171904;11295131;11396715;11753429;11761322;11861643;11956220;12011284;12098640;12136060;12360111;12428723;12465073;12477932;12563176;12732844;12763335;12777388;12815660;12815741;12825788;12855685;12913124;12963742;1432104;14659989;14697881;14743364;14962671;15024015;15027868;15028609;15057517;15211623;15247489;15261699;15355491;15461973;15589121;15694196;15699372;15710600;15753616;15772651;15862518;15921854;15955630;16129825;16344560;16366596;16427095;16455660;16484337;16610949;16674552;16807522;17044053;17270484;17289152;17427196;17449559;17628790;17640790;17885758;17918234;17938636;18092818;18205889;18270970;18327668;18405071;18430257;18553363;18832861;19053775;19058789;19086053;19156168;19221690;19268543;19455600;19506579;19598235;19657584;19693267;19789505;19863190;19874574;19913121;19956754;20022119;20127808;2023912;20461808;20467438;20479760;20485326;20589923;20603187;20628086;20648649;20734064;21075085;21177257;21359973;21610556;21781348;21786798;21906983;21971000;21971001;21978362;21978760;21988832;22270014;22414661;22974659;23054588;23093014;23319194;23474901;24772965;3387449;3540317;4016087;4687789;6951409;7063850;7499273;8060341;8316221;8515265;8602220;8613523;8665924;8889548;9045087;9596006 4129 B7Z242;B7Z5H3;P27338 ABBA01046436;ABBA01046437;ABBA01046438;ABBA01046439;ABBA01046440;ABBA01046441;ABBA01046442;ABBA01046443;ABBA01046444;ABBA01046445;ABBA01046446;AK294306;AK298942;AK310458;AK312679;AL008709;AL020990;AL133791;AMYH02039231;AMYH02039232;AU127841;BC022494;BM726427;CA975968;CH471141;DC326844;KF459094;KF510676;M69135;M69177;M89637;NG_008723;NM_000898;S62734;XM_005272607;XM_005272608;Z95125 AAA59550;AAA59551;AAB27229;AAB46386;AAH22494;ACT64566;ACT64567;BAG35560;BAH11728;BAH12909;EAW59378;EAW59379;EAW59380;NP_000889;P27338;XP_005272664;XP_005272665 Hs.654473 1338845;1664196;1665470;1741285;1741945;2116216;2119198;2133042;2143732;2160748;5096380;7185580 AFM217YA7;AL023616;DXS6741;DXS7152;DXS7700;DXS8035;DXS9741;GDB:180345;GDB:186952;RH45779;STS-H69551 MAO-B;MGC26382 MAO, brain;MAO, platelet;OTTHUMP00000023166;adrenalin oxidase;amine oxidase [flavin-containing] B;monoamine oxidase type B;tyramine oxidase APPROVED protein-coding ENSG00000069535 HGNC:6834 02401 309860 REVIEWED 1606859 MAP1LC3C microtubule-associated protein 1 light chain 3 gamma Autophagy is a highly regulated bulk degradation process that plays an important role in cellular maintenance and development. MAP1LC3C is an ortholog of the yeast autophagosome protein Atg8 (He et al., 2003 [PubMed 12740394]).[supplied by OMIM, Nov 2010] 1 1 1 q43 215414462 215418051 - 242158792 242164630 - 241995490 242001328 - 4890444;6480464 20562859 12477932;12740394;15146197;15187094;15489334;16710414;19250911;2212989;23022382;23043107;23209807;8997639 440738 Q9BXW4 ABBA01033265;AF276659;AMYH02003042;BC127722;BC132986;BC132988;BX571673;CH471098;CN260933;NM_001004343;XM_005273139 AAI27723;AAI32987;AAI32989;AAK35152;EAW70108;NP_001004343;Q9BXW4;XP_005273196 Hs.534971 5015619;5022200 D11S3114;L18426 ATG8J;LC3C LC3-like protein 2;MAP1 light chain 3-like protein 2;MAP1 light chain 3-like protein 3;MAP1A/MAP1B LC3 C;MAP1A/MAP1B light chain 3 C;OTTHUMP00000037810;autophagy-related protein LC3 C;autophagy-related ubiquitin-like modifier LC3 C;microtubule-associated proteins 1A/1B light chain 3C APPROVED protein-coding ENSG00000197769 HGNC:13353 14226 609605 VALIDATED 1317942 MAP1S microtubule-associated protein 1S ENCODES a protein that exhibits actin filament binding; beta-tubulin binding; DNA binding; INVOLVED IN execution phase of apoptosis; microtubule bundle formation; neuron projection morphogenesis; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction; cell projection; cytoplasm; INTERACTS WITH 2-methylcholine; benzene; paracetamol 19 19 19 p13.11 17731926 17747113 + 17830303 17845324 + 17719494 17734515 + 6480464;8554872 11827465;12477932;12762840;14627543;14702039;15205320;15302935;15528209;15753381;15907802;15964851;16055720;16297881;16396496;17658481;19027008;19759419;20360068;20562859;21139048;21262964;21890473;21906983;22505724;22863883;23455922;24163370;24255178;24816145 55201 M0QX37;M0QXE8;M0QXK6;M0QXQ9;M0QY41;M0QYI5;M0QZ50;M0R1J2;M0R1M7;Q66K74 AA905204;AB062430;ABBA01051228;AC008761;AJ440784;AK001531;AK023118;AK027623;AK292555;AK294936;AK308975;AL834233;AMYH02035712;BC006358;BC007253;BC008806;BC067115;BC080547;BC113952;BG771546;CH471106;DQ387861;NM_018174 AAH06358;AAH07253;AAH08806;AAH67115;AAH80547;AAI13953;ABD47682;BAA91743;BAB14415;BAB55242;BAB93493;BAF85244;BAG58014;CAD29574;CAD38911;EAW84626;NP_060644;Q66K74 Hs.66048 1853171;5112305 D19S1132;RH103228 BPY2IP1;C19orf5;FLJ10669;MAP-1S;MAP8;MGC133087;VCY2IP-1;VCY2IP1 BPY2 interacting protein 1;BPY2-interacting protein 1;VCY2 interacting protein 1;VCY2-interacting protein 1;microtubule-associated protein 8;variable charge Y chromosome 2-interacting protein 1 protein-coding ENSG00000130479 HGNC:15715 10461 607573 VALIDATED 1350730 MAP2K1P1 mitogen-activated protein kinase kinase 1 pseudogene 1 8 8 8 p12 28845667 28845856 + 29884760 29887355 + 30027244 30029839 + 29778 ABBA01023672;AC044849;AF157487;AMYH02017708;NG_001273 1685355;1750053 RH68988;SHGC-112319 pseudo ENSG00000254013 HGNC:6841 INFERRED 1343460 MAP2K2 mitogen-activated protein kinase kinase 2 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 4029762 4063598 - 4090319 4124126 - 4090321 4124189 - 1580863;1626216;2298686;2292627;6480464;6484113;6907045;7240710;8554872 10216485;17310240;18060073 10224087;10409742;10489373;10509564;10712923;10780709;10799874;10828601;10862698;10982368;11044099;11104681;11134045;11260070;11409852;11520933;11579140;11726657;11823456;11909642;12032872;12063167;12089333;12167619;12477932;12482669;12505790;12531514;12582162;12612059;12775419;12788955;12792650;12839928;14499342;14517288;14656894;14672918;14702039;14724641;15071496;15118098;15276183;15284233;15292274;15302935;15489334;15543157;15638726;15979847;16103188;16239230;16332685;16439621;16454711;16533805;16651638;16957420;16964243;17038630;17081983;17101779;17192257;17366577;17380122;17419998;17461449;17603482;17623298;17643375;17704260;17979178;17981815;18042262;18390968;18413255;18424438;18569454;18617556;18624398;19014680;19156172;19164283;19206169;19447520;19453261;19496172;19500021;19565474;19681119;19816936;19850743;19858308;19884766;20172001;20301365;20302979;20358587;20404718;20837746;20885957;20936779;21139048;21178588;21365009;21445343;21447798;21458501;21509657;21525035;21615688;21675959;21890473;21906983;21963094;21969554;21988832;22052387;22053931;22185284;22197931;22298595;22805291;22805292;22833572;22895183;22902540;22935974;22946697;22990118;23000965;23237773;23423222;23555914;23684925;24011934;24255178;24311457;24501087;24639526;24704364;24797263;24816145;25027693;7566098;7687743;7839144;8157000;8226933;8388392;8393135;8529659;8626767;8668348;8702863;9006895;9069267;9159118;9223324;9325171;9427625;9558095;9563949;9621077;9671314;9733512;9781012;9808624;9915804 5605 B3KS97;G5E9C7;M0R1B6;P36507 AA312322;ABBA01056089;AC016586;AK093125;AK126446;AK129586;AMYH02035277;BC000471;BC018645;BX538081;CH471139;KF511270;L11285;NG_007996;NM_030662;XM_006722799 AAH00471;AAH18645;ABM84527;ABM85986;BAC85187;BAG52659;CAD98005;EAW69262;EAW69263;EAW69264;EAW69265;NP_109587;P36507;XP_006722862 Hs.465627 1342050;1701108;2116458;2116640;5014051;5015404;5022651 D11S2921;D12S84;D8S2278;L17705;RH104182;RH12333;RH17501 CFC4;FLJ26075;MAPKK 2;MAPKK2;MEK 2;MEK2;MKK2;PRKMK2 ERK activator kinase 2;MAP kinase kinase 2;MAPK/ERK kinase 2;OTTHUMP00000165826;OTTHUMP00000165827;dual specificity mitogen-activated protein kinase kinase 2;mitogen-activated protein kinase kinase 2, p45 APPROVED protein-coding ENSG00000126934 HGNC:6842 03164 115150;601263;615280 REVIEWED 6480555 MAP2K4P1 mitogen-activated protein kinase kinase 4 pseudogene 1 X X X q13.2 73027588 73066397 - 72744111 72782921 - 73524275 73563085 - 12376211;14702039 139201 ABBA01059663;ABBA01059664;ABBA01059665;ABBA01059666;ABBA01059667;ABBA01059668;ABBA01059669;AF332564;AK056535;AL358796;AL450108;AMYH02039771;NR_029423 Hs.586477 1661525 RH70575 pseudo ENSG00000269904 HGNC:43837 VALIDATED 1315342 MAP2K3 mitogen-activated protein kinase kinase 3 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 858 11046 - 21187968 21218552 + 21284656 21315240 + 1580863;1641940;2293891;2298758;6480464;6484113;6907045;7495806;7495807;7495809;7495810;7495813;7243113;7495808 11473637;12618338;16183734;16805832;17406030;17481747;19427893;20550965;20980434;24233520 10497253;10856288;10997882;11062067;11062068;11181995;11279118;11279172;11414763;11562357;11971971;11980910;12024021;12054652;12377770;12477932;12589052;12761180;13679851;14702039;15276183;15375157;15489334;15516490;15677464;15778394;15797859;15866172;16341674;16344560;16709574;16709866;16728640;17255949;17438131;19047046;19302196;19672773;19737936;19946888;20067578;20173330;20213747;20805296;21044950;21048031;21137025;21139048;21206905;21368234;21832049;21890473;21900206;21906983;21963094;21988832;22154358;22164285;22505724;22623531;22696064;23000965;23535064;23602568;23825110;24112539;24487387;24797263;24816145;7750576;7839144;8125298;8226933;8622669;8626699;8900184;9038352;9162092;9465908;9768359;9786855;9841871 5606 E9PMA8;E9PRZ0;J3KRV4;J3QL77;J3QR49;P46734;Q6FI23;X6RB39 AB451226;AB451349;ABBA01050464;AC087294;AI758302;AK093838;AK223490;AK315505;AMYH02033199;BC032478;BM836867;CH879350;CR536514;CR541793;D87116;DA131175;DA987047;GQ225578;KF456263;L36719;NG_028256;NM_002756;NM_145109;U66839;U66840;XM_005256721;XM_005256722;XM_005256723 AAB40652;AAB40653;AAC41718;AAH32478;ABM85114;ACT33197;BAA13248;BAD97210;BAG37889;BAG52769;BAG70040;BAG70163;CAG38752;CAG46592;EAW50386;NP_002747;NP_659731;P46734;XP_005256778;XP_005256779;XP_005256780 Hs.514012 1657998;1686258;1796280 D17S624;MAP2K3_360;RH69047 MAPKK 3;MAPKK3;MEK 3;MEK3;MKK3;PRKMK3;SAPKK-2;SAPKK2 MAP kinase kinase 3;MAPK/ERK kinase 3;OTTHUMP00000166043;OTTHUMP00000166044;SAPK kinase 2;dual specificity mitogen-activated protein kinase kinase 3;mitogen activated protein kinase kinase 3;stress-activated protein kinase kinase 2 APPROVED protein-coding ENSG00000034152 HGNC:6843 03816 602315 REVIEWED 1347407 MAP2K7 mitogen-activated protein kinase kinase 7 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 19 19 19 p13.3-p13.2 7839967 7850565 + 7968665 7979363 + 7903780 7914478 + 1580863;2293334;2293337;2298567;2298561;2293875;2298577;2293338;6480464;6484113;6907045 10051439;15680699;16322247;16489030;17064355;17306896;17577251 10187804;10347227;10490659;10629060;10713157;10756100;10969079;11062067;11104681;11274363;11318610;11390361;11726277;11836244;11891214;11959861;11959862;12138158;12189133;12220515;12477932;12659851;12821118;13130464;14500727;14697235;14743220;14968112;15001580;15276183;15299019;15465036;15489334;15753034;15866172;16169070;16243842;16313339;16442502;16456539;16533805;16802349;16840345;17110930;17189706;17485467;18222647;18286207;18343408;18436711;18713996;19302196;19322201;19737936;19910486;20067578;20156194;21074392;21139048;21148294;21749326;21890473;21906983;21988832;22154358;22159816;22267733;22268729;22505724;22509080;22623531;22899651;22903704;22939624;23341463;23900681;24104474;24250222;24533778;24816145;24975362;9207092;9312068;9372971;9488659;9535930;9661668 5609 O14733 ABBA01010877;ABBA01010878;AC010336;AF003199;AF006689;AF013588;AF013589;AF014401;AF022805;AK098807;AK300988;AK313899;AMYH02035411;BC005365;BC038295;BF445461;CH471139;DQ445915;HY063492;HY099294;NG_029438;NM_001297555;NM_001297556;NM_145185;XM_005272489;XM_005272490;XM_006722800 AAB63374;AAB88048;AAB97813;AAC16272;AAC16273;AAC26142;AAH38295;ABE03013;ABM82200;ABM85388;BAG36622;BAG62607;EAW68962;EAW68963;EAW68964;EAW68965;EAW68966;EAW68967;EAW68968;NP_001284484;NP_001284485;NP_660186;O14733;XP_005272546;XP_005272547;XP_006722863 Hs.531754 1694744;1751431;2167770;5015961;5022161;5037552;5109281 D15S1477;D1S1425;D8S2279;G43572;RH65754;SHGC-105254;WI-17148 JNKK 2;Jnkk2;MAPKK 7;MAPKK7;MEK;MEK 7;MKK7;PRKMK7;SAPKK-4;SAPKK4 JNK kinase 2;JNK-activating kinase 2;MAP kinase kinase 7;MAPK/ERK kinase 7;OTTHUMP00000174396;OTTHUMP00000174397;OTTHUMP00000174398;SAPK kinase 4;c-Jun N-terminal kinase kinase 2;dual specificity mitogen-activated protein kinase kinase 7;stress-activated protein kinase kinase 4 APPROVED protein-coding ENSG00000076984 HGNC:6847 603014 REVIEWED 735708 MAP2K5 mitogen-activated protein kinase kinase 5 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011] 15 15 15 q23 44722555 44987508 + 67835021 68099455 + 67542683 67807117 + 1580866;1580863;1582271;2298795;1582263;2298532;6480464;6907045;8554872 11387209;12618764;12860565;15631999;16376520 10531364;10593883;11073940;11158308;11520859;12219026;12477932;12628002;12659851;12813044;12842996;14583600;14702039;14743216;15075238;15378007;15489334;15805119;16728640;16730941;16758967;16861740;17474147;17637780;17872495;18071319;18588859;19223043;19279021;19294699;19605361;19822783;19903815;19913121;20396431;20628086;20935630;20936779;21166929;21767578;21779176;21820407;21861603;21900206;21925394;21988832;22344219;22594783;22939624;23563607;23950888;24975362;7499418;7759517;8889548;9384584;9790194 5607 A6NK28;H7BZL1;Q13163 ABBA01038790;ABBA01038791;ABBA01038792;ABBA01038793;ABBA01038794;ABBA01038795;ABBA01038796;ABBA01038797;ABBA01038798;ABBA01038799;AC009292;AC016355;AC103753;AK024766;AK057521;AK293459;AK315435;AMYH02030669;AMYH02030670;AMYH02030671;AMYH02030672;BC008838;BI460343;BM682675;BT006780;CH471082;CR542229;DN998338;HH961878;KF456084;NG_029143;NM_001206804;NM_002757;NM_145160;U71087;U71088 AAB16851;AAB16852;AAH08838;AAP35426;ADZ15346;BAG37823;BAG51927;BAG56954;CAG47025;CBX51412;EAW77799;EAW77800;EAW77801;EAW77802;NP_001193733;NP_002748;NP_660143;Q13163 Hs.114198 1340701;1659285;1697076;1727617;1764103;1783282;1783296;1852568;2114176;2128059;2144910;2148613;2178398;2191789;5126347 AFM276YB5;BCD1447;D15S1015;D15S1220;D15S1242;G63218;MARC_7855-7856:996688103:1;RH102019;RH67871;SHGC-147756;SHGC-156118;SHGC-172623;SHGC-34905;STS-H66629;WI-19238 HsT17454;MAPKK 5;MAPKK5;MEK 5;MEK5;PRKMK5 MAP kinase kinase 5;MAP kinase kinase MEK5b;MAPK/ERK kinase 5;OTTHUMP00000164363;dual specificity mitogen-activated protein kinase kinase 5 APPROVED protein-coding ENSG00000137764 HGNC:6845 03951 602520 REVIEWED 732023 MAP2K1 mitogen-activated protein kinase kinase 1 The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008] 15 15 15 q22.1-q22.33 43568908 43673089 + 66679182 66783882 + 66386844 66491544 + 1580863;1580093;1582169;1357969;1302505;1626216;2292630;2292631;2306052;2298686;2306053;2292627;2292629;5133243;5133242;6480464;6484113;6907045;7240710;8554872 10209122;10216485;10536014;12644821;12688676;12835716;15520221;16439621;17310240;18060073;18172299;20951313;21277552;7664295 10395327;10402467;10409742;10489373;10509564;10523642;10570282;10712923;10716983;10748187;10757792;10780709;10799874;10806207;10828601;10848576;10912793;10958680;10969079;10982368;10997882;11044099;11044439;11104681;11134045;11226259;11260070;11266467;11278389;11279118;11352917;11409852;11520933;11535599;11579140;11604401;11684694;11726657;11741534;11741894;11823456;11891225;11940661;11948406;12032872;12063167;12089333;12167619;12370306;12456688;12477932;12482669;12522135;12522145;12531514;12556561;12594221;12609978;12612059;12663662;12682854;12689928;12697810;12775419;12788955;12792650;12807433;1281467;12839928;12917419;12975377;14500727;14581471;14656894;14672918;14724641;15020233;15021912;15069060;15090600;15118098;15155804;15231747;15258589;15276183;15284233;15292274;15297310;15299019;15302887;15353548;15485920;15520859;15538402;15543157;15557124;15572374;15615716;15638726;15657353;15657590;15665520;15757891;15866172;15888452;15979847;16086581;16093354;16239230;16291755;16313339;16344560;16454711;16533805;16728640;16737746;16810323;16820947;16861903;16888650;16957420;17038630;17054908;17101779;17182854;17192257;17197157;17260965;17366577;17419998;17461449;17490600;17603482;17623298;17667937;17704260;17951252;17979178;17981815;18029348;18042262;18192500;18329369;18332145;18390968;18413255;18424438;18434598;18533112;18556463;18569454;18593598;18617556;18632602;18660489;19001375;19014680;19056740;19133693;19153083;19156172;19164283;19206169;19261809;19322201;19342664;19411838;19447520;19453261;19500021;19565474;19567590;19625741;19681119;19802003;19816936;19835659;19858308;19953087;20007706;20019835;20056645;20172001;20179161;20212043;20299489;20301303;20301365;20302979;20354455;20404718;20433920;20512084;20610816;20676060;20885957;20926789;20936779;20956560;21131601;21139048;21179471;21336309;21383288;21447798;21458501;21567396;21621846;21675959;21705440;21707777;21713404;21835307;21890473;21906983;21965271;22037177;22052387;22053931;22180573;22188669;22197931;22241220;22298595;22327936;22357202;22495818;22546605;22588879;22707717;22752157;22773810;22791812;22805291;22805292;22833572;22902540;22935974;22946047;22946697;23000965;23001481;23157514;23225884;23237773;23241949;23360980;23383273;23423222;23524336;23555914;23684925;23698055;23727904;23746211;23852369;23923067;24011934;24091658;24114843;24132923;24211253;24241536;24255178;24338975;24419498;24445144;24501087;24639526;24704364;24816145;24909280;25015289;7601337;7624324;7731720;7957875;7969158;8131746;8157000;8226933;8388392;8394352;8529659;8621729;8626767;8631303;8900182;8939914;9006895;9069267;9223324;9311917;9325171;9351825;9465908;9553107;9558095;9563949;9564043;9621077;9733512;9765203;9841871 5604 A4QPA9;B4DFY5;H3BRW9;Q02750 ABBA01038819;ABBA01038820;ABBA01038821;ABBA01038822;AC011276;AC055855;AC116913;AK291500;AK294322;AK312356;AMYH02030645;AMYH02030646;AMYH02030647;AMYH02030648;AMYH02030649;BC137459;BC139729;BE856741;BG709050;CA419665;CH471082;DA653983;L05624;L11284;NG_008305;NM_002755;XM_005254541;XM_006720608 AAA36318;AAI37460;AAI39730;BAF84189;BAG57596;EAW77765;EAW77766;EAW77767;EAW77768;EAW77769;NP_002746;Q02750;XP_005254598;XP_006720671 Hs.145442 1336989;1684367;1685355;1797840;5493615 D15S534;MAP2K1_2178;RH28581;RH68988;UniSTS:489729 CFC3;MAPKK 1;MAPKK1;MEK 1;MEK1;MKK1;PRKMK1 ERK activator kinase 1;MAP kinase kinase 1;MAPK/ERK kinase 1;OTTHUMP00000164252;dual specificity mitogen-activated protein kinase kinase 1;mitogen activated protein kinase kinase 1;protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1) APPROVED protein-coding HGNC:6840 01469 115150;176872;615279 REVIEWED 732805 MAP2K6 mitogen-activated protein kinase kinase 6 This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008] 17 17 17 q24.3 63982421 64110030 + 67410838 67538470 + 69414697 69542329 + 1582277;1302548;1580863;1582275;2293334;2293337;2298758;2293338;2293891;6480464;6484113;6907045;7495813;7495833;7495829;7495840;7495832;7495806;8554872 11473637;11593045;12392790;14749328;15492008;15722372;16183734;16322247;16489030;17016428;17481747;17577251;20980434;23157661 10094049;10497253;10570156;10702308;10838074;10848581;10961885;11062067;11062068;11104681;11279118;11460167;11562357;11689443;11727828;11836244;11971971;12052864;12054652;12242293;12477932;12509443;12556533;12589052;12609980;12697810;12761180;12820963;14633987;15229216;15276183;15375157;15489334;15516490;15550393;15590691;15677464;15717329;15764709;15778394;15790570;15866172;15923648;16157600;16313339;16342939;16344560;16498455;16728640;16893890;16960152;17079228;17255097;17255949;17363905;17363973;17384642;18327563;19047046;19141286;19234473;19302196;19672773;19675569;19737936;19846005;19913121;20067578;20162623;20213747;20364819;20628086;20706999;20805296;20869211;20932476;21078955;21139048;21308746;21368234;21890473;21926646;22154358;22164285;22383536;22569225;23535064;23606331;23744074;24936062;7750576;8125298;8621675;8622669;8626699;8663074;8861944;9218798;9430721;9768359;9808624;9841871 5608 A8K3Y2;K7EIW3;K7ELM6;P52564 AA932919;AB451252;AB451376;ABBA01028938;ABBA01028939;ABBA01028940;ABBA01028941;ABBA01028942;ABBA01028943;ABBA01028944;AC002546;AC015920;AK225719;AK290747;AMYH02033884;AMYH02033885;BC012009;BX641121;CH471099;D87905;DB111443;EU332850;JX512448;NG_029437;NM_002758;U39064;U39065;U39656;U39657;U49732;X96757;XM_005257515;XM_005257516;XM_005257517;XM_006721975 AAB03705;AAB03708;AAB05035;AAC50388;AAC50389;AAH12009;ABM82414;ABM85599;ABY87539;AGC09595;BAA13496;BAF83436;BAG70066;BAG70190;CAA65532;CAE46056;EAW89084;EAW89085;EAW89086;NP_002749;P52564;XP_005257572;XP_005257573;XP_005257574;XP_006722038 Hs.463978 1336518;1736628;1774617;1849160;1849162;5021351 A005K40;D17S1471E;D17S1526;D17S1786;G20292;MARC_24286-24287:1044369540:1 MAPKK 6;MAPKK6;MEK 6;MEK6;MKK6;PRKMK6;SAPKK-3;SAPKK3 MAP kinase kinase 6;MAPK/ERK kinase 6;SAPK kinase 3;dual specificity mitogen-activated protein kinase kinase 6;protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6);stress-activated protein kinase kinase 3 APPROVED protein-coding HGNC:6846 03155 601254 REVIEWED 733668 MAP2 microtubule-associated protein 2 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010] 2 2 2 q34-q35 204056618 204366628 + 210288733 210598842 + 209424009 209734118 + 1580863;6480464;6483087;6483088;6483323;6483080;6483086;6483090;6483091;6483322;6483319;6483324;6483079;6483085;6483089;6483082;6483083;8554872 19966940;20024519;20092829;20568963;20873448;21300124;21401443;21421895;21704982;21858873;21933624;21948028;22083255;22265658;22444278 10527895;10781592;10862698;11029056;11171103;11546790;11831386;11922706;12023276;12079519;12082079;12477932;12605092;12629046;12775713;12879020;12890753;12927759;14594945;14604896;14702039;14759258;1494913;15146346;15285794;15285795;15345747;15465982;15536091;15623521;15822905;16145685;16195780;16611822;16916793;1708129;17081983;17326138;18073143;18341635;19009302;1902666;19165527;19309409;19369632;19701075;19880519;19913121;19953087;20100193;20195357;20379614;20628086;21139048;21249135;21832049;2212989;22272295;22403409;22863883;22874672;22985576;23077641;24069608;24163370;24250222;2455776;2481044;2561973;2701845;2777757;3027087;3103857;3200318;7479905;7556643;7820861;7854050;8294038;8624078;8631898;8997639;9384577;9588626 4133 A8MZ31;E7EV03;H7BZB9;P11137;Q6NYC5 AB209330;ABBA01062724;ABBA01062725;ABBA01062726;ABBA01062727;ABBA01062728;ABBA01062729;AC006385;AC019106;AC079833;AC108072;AF088065;AK055674;AK056148;AK291446;AK307603;AL833567;AMYH02005671;AMYH02005672;AMYH02005673;AMYH02005674;AMYH02005675;AV718243;BC027583;BC038857;BC066648;BC110423;BC117123;BC143245;BX431335;BX474027;BX485448;BX490896;CH471063;CK903071;M25668;NM_001039538;NM_002374;NM_031845;NM_031847;S76756;U01828;U34061;U89329;U89330;XM_005246554;XM_005246555;XM_005246556;XM_005246557;XM_005246558;XM_005246559;XM_005246560;XM_005246561;XM_005246562;XM_005246563;XM_005246564;XM_005246565;XM_005246566;XM_005246567;XM_006712529;XM_006712530;XM_006712531;XM_006712532;XM_006712533 AAA03354;AAA59552;AAB33379;AAB48097;AAB48098;AAH38857;AAH66648;AAI10424;AAI17124;AAI43246;AAI72263;AAI72568;ADZ15552;BAD92567;BAF84135;EAW70453;EAW70454;EAW70455;EAW70456;EAW70457;EAW70458;EAW70459;EAW70460;EAW70461;EAW70462;EAW70463;EAW70464;NP_001034627;NP_002365;NP_114033;NP_114035;P11137;XP_005246611;XP_005246612;XP_005246613;XP_005246614;XP_005246615;XP_005246616;XP_005246617;XP_005246618;XP_005246619;XP_005246620;XP_005246621;XP_005246622;XP_005246623;XP_005246624;XP_006712592;XP_006712593;XP_006712594;XP_006712595;XP_006712596 Hs.368281 1340822;1668836;1673085;1707018;1723337;1726571;1742475;1784208;1855844;2111095;2126945;2142702;2151849;2167025;5094892 D2S1366;D2S1369;D2S241E;G62667;GDB:197515;GDB:372046;MAP2;RH118485;RH48276;RH66399;SHGC-155562;SHGC-31054;SHGC-81013;STS-U01828;WI-14008 DKFZp686I2148;MAP-2;MAP2A;MAP2B;MAP2C OTTHUMP00000163915;OTTHUMP00000163916;OTTHUMP00000165185;OTTHUMP00000208143;OTTHUMP00000208144 APPROVED protein-coding ENSG00000078018 HGNC:6839 01140 157130 REVIEWED 1316000 MAP2K4 mitogen-activated protein kinase kinase 4 This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 17 17 17 p12 11954698 12077624 + 11924135 12047148 + 12020818 12143831 + 1580863;2289400;2293334;2293338;2306057;2293332;2298561;2298577;2293875;2293337;2293333;5490968;5490966;6480464;6484113;6907045;7495829;7495827;7495828;7495823;7495824;7495830;7495825;7495826;8554872 10051439;11306453;15592684;15665277;16322247;16489030;16627982;17064355;17306896;17577251;18772397;19404734;19668425;20610622;20699612;21378167;21454599;23157661;23859770;9195981 10187804;10489373;10521444;10523642;10620019;10713157;10715136;10969079;11062067;11090355;11104681;11279118;11562357;11707464;11754110;11836244;12189133;12220515;12223490;12228228;12368275;12391307;12429732;12456688;12477932;12556533;12659851;12714585;12730213;12788955;13130464;14500727;14504284;14511403;14581471;14661062;14702039;14716300;15256484;15258908;15262961;15276183;15299005;15299019;15328343;15496400;15623633;15670787;15737736;15866172;15911620;15998799;16167336;16197369;16339111;16344560;16388335;16472679;16533805;16709574;16802349;16964394;17009014;17110930;17158870;17178861;17322004;17389591;17541429;17675521;17906693;18337456;18408005;18436711;18713996;19001375;19012245;19265040;19294699;19302196;19351724;19351817;19513509;19593445;19610067;19638505;19737936;19782076;19861690;20156194;20309881;20554746;20732303;20801953;21030692;21048031;21333379;21372598;21487811;21518142;21575258;21638028;21702039;21822214;21832049;21896780;21900206;21915030;21925502;21988832;22154052;22154358;22158075;22335172;22366412;22526163;22535895;22730327;22828509;22952603;23299404;23355465;23653187;23877919;23921907;23960075;24532253;24797263;24816145;7716521;7839144;7997270;8631303;8755474;8786147;9002521;9006895;9162092;9182538;9207092;9331070;9405400;9582321;9622070;9661668;9712898;9761781;9808624;9841871 6416 B7ZA62;J3QLE2;K7EP58;P45985;R4GN37;R4GN68 AA293365;ABBA01054999;ABBA01055000;AC005244;AC005410;AF070082;AF070085;AF070088;AF070090;AK122997;AK131544;AK294923;AK313053;AK316100;AK316177;AMYH02032997;AU150695;BC036032;BC050386;BC060764;BQ028457;BT019676;CH471108;CR536564;DQ015703;L31902;L36870;NG_033952;NM_001281435;NM_003010;U17743;XM_005256753;XM_005256755;XM_006721568 AAC24130;AAC41719;AAC50127;AAH36032;AAH60764;AAV38482;AAY22176;BAG35884;BAG54774;BAG58005;BAH14471;BAH14548;CAG38801;EAW89973;EAW89974;EAW89975;EAW89976;NP_001268364;NP_003001;P45985;XP_005256810;XP_005256812;XP_006721631 Hs.514681 1661525;1682521;1783614;1796282;2133859;2144996;2162479;2174155;5014051;5022200;5022578;5022651;5037552 A003B48;D11S2921;D1S1423;D8S2278;D8S2279;L18426;MAP2K4_908;RH12704;RH46488;RH48101;RH70575;SHGC-171541;SHGC-35988 JNKK;JNKK1;MAPKK 4;MAPKK4;MEK 4;MEK4;MKK4;PRKMK4;SAPKK-1;SAPKK1;SEK1;SERK1;SKK1 JNK activating kinase 1;JNK-activated kinase 1;JNK-activating kinase 1;MAP kinase kinase 4;MAPK/ERK kinase 4;SAPK kinase 1;SAPK/ERK kinase 1;c-Jun N-terminal kinase kinase 1;dual specificity mitogen-activated protein kinase kinase 4;stress-activated protein kinase kinase 1 APPROVED protein-coding ENSG00000065559 HGNC:6844 03213 601335 REVIEWED 735751 MAOA monoamine oxidase A This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012] X X X p11.3 47658765 47745839 + 43514155 43606071 + 43654907 43746824 + 1600723;1600725;1600720;1580863;6480464;6907045;7240710;8554872;8699517 15088153;15670397;15900229 10647887;11121185;11140838;11304831;11353450;11443519;11761322;11805333;11812236;11861643;11920860;11927135;11945082;11963571;11992558;11992559;11992560;11999895;12098640;12116182;12136060;12140786;12151768;12161658;12163988;12164325;12170473;12360111;12399942;12428723;12445480;12477932;12497608;12497620;12502014;12554604;12555227;12555234;12563176;12566936;12607224;12629534;12648733;12650952;12668354;12773616;12777388;12778446;12815746;12824808;12877392;12886034;12919132;1432104;14520117;14697881;14962671;15024395;15034227;15052272;15088154;15094788;15150530;15211623;15241435;15261699;15292674;15341275;15346539;15349769;15450911;15457497;1546132;15486489;15489334;15498245;15523490;15539858;15556933;15564894;15635592;15694196;15722955;1578281;15806601;15870836;15936529;15956990;15990460;16094253;16110245;16125147;16129825;16139427;16174289;16186632;16202396;16207390;16272956;16319504;16360899;16455660;16526025;16538181;16538182;16547693;16584839;16610949;16674552;16725119;16728402;16741202;16763378;16770335;16801953;16806099;16814261;16829576;16848906;16856146;16890910;16893905;16894395;16896926;16930369;16944667;16958037;17007976;17008143;17020906;17026953;17034017;17044053;17141746;17167335;17192957;17208375;17217235;17220478;17221847;17230031;17295220;17298646;17328795;17340199;17393061;17400359;17417058;17426915;17427196;17429405;17440951;17449559;17453062;17476365;17519928;17534436;17563839;17585061;17592478;17627031;17657171;17680543;17692293;17728669;1783405;17868476;17883400;17884271;17885625;17885758;17894408;17920180;17931441;17943028;17944104;18023041;18029114;18046978;18046979;18075472;18079067;18092818;18188752;18212819;18227761;18239643;18248494;18258310;18261931;18270970;18294618;18337637;18361446;18387780;18388730;18391214;18405062;18405071;18430257;18437281;18454435;18463263;18474080;18486967;18501009;18504633;18544183;18566880;18596609;18607773;18626920;18639608;18676680;18726986;18752729;18810510;18827956;18832011;18845200;1886775;18937309;18955512;18971477;19005081;19032968;19058789;19064571;19077664;19086053;19100789;19120058;19156168;19168625;19170196;19194374;19214141;19223155;19224413;19247474;19248248;19255579;19267171;19302089;19309535;19333405;19337825;19357553;19368859;19382113;19398936;19415821;19455600;19485616;19492728;19506579;19506906;19539632;19548263;19573521;19583892;19593178;19625011;19642709;19645722;19657584;19666839;19692168;19693267;19727210;19777560;19796878;19818126;19829167;19859025;19874574;19892410;19913121;19915868;19935847;19941049;19951362;20010318;20033274;20041956;20046877;20078943;20127808;20152292;20175604;20187845;20201935;20204405;20206656;20213484;2021654;20218801;2023912;20303364;20332182;20351714;20354746;20364435;20374544;20421737;20435093;20461808;20464528;20468064;20477771;20485326;20497231;20573161;20589923;20595415;20628086;20652353;20677440;20691428;20729761;20731636;20734064;20734127;20820831;20850185;20862259;20869421;20873971;20967566;21039487;21075085;21099450;21114364;21147794;21152968;21177257;21236646;21273708;21295226;21299892;21302344;21359973;21383264;21422455;21516943;21521428;21530215;21538940;21605465;21610556;21698196;21761555;21775495;21819071;21884321;21890473;21906983;21912191;21912392;21934643;21971000;21971001;21971004;21978760;21983350;22030358;22041522;22162429;22193458;22198720;22336227;22351881;22436428;22473857;22569243;22619623;22627167;22711722;22781862;22832821;22906985;22911667;22948232;22985017;23044341;23054588;23067570;23076524;23088179;23111930;23116433;23157339;23197227;23215821;23313272;23319006;23344637;23391042;23449091;23480342;23499704;23544600;23548774;23627963;23707423;23726513;23738520;23742855;23746491;23746540;23755928;23786983;23866280;23888755;24008922;2414414;24229476;24247011;24360188;2483108;24865426;2744764;2764901;2793188;2906043;3178846;3387449;3418353;3540317;6408492;6788990;7063850;7519662;8125298;8211186;8316221;8503438;8584674;8678123;8889548 4128 P21397;Q49A63;Q53YE7 ABBA01046449;ABBA01046450;ABBA01046451;ABBA01046452;ABBA01046453;ABBA01046454;ABBA01046455;ABBA01046456;AK223499;AK291769;AK293926;AL020990;AL109855;AMYH02039231;AY684850;AY684858;AY685682;AY685685;BC008064;BC044787;BG534382;BT006651;BU684121;BX501303;BX530072;CH471141;M68840;M68845;M68857;M69226;M89636;NG_008957;NM_000240;NM_001270458;S72704;S81371;X17192;X60811;X60813;X60819 AAA59547;AAA59548;AAA59549;AAB46385;AAD14113;AAD14361;AAH08064;AAH44787;AAP35297;AAV34705;AAV34711;AAV34717;AAV34720;ABM81602;ABM84783;BAD97219;BAF84458;BAG57307;EAW59381;EAW59382;EAW59383;NP_000231;NP_001257387;P21397 Hs.183109 1651287;1656398;1671263;1701848;1702872;1742019;1742109;1742111;1791900;1796278;1856623;2137445;2183051;2220300 AFMa040yf9;DXS7156;DXS8277;GDB:178075;GDB:189507;GDB:191609;GDB:191610;GDB:313553;LAMP2;MAOA;MAOA_1352;PMC130047P4;STS-AA035648;WI-19024 MAO-A OTTHUMP00000023165;amine oxidase [flavin-containing] A;monoamine oxidase type A APPROVED protein-coding ENSG00000189221 HGNC:6833 02400 300615;309850 REVIEWED 737536 MAP3K12 mitogen-activated protein kinase kinase kinase 12 This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010] 12 12 12 q13 53524658 53543802 - 53873456 53893444 - 53479672 53499660 - 1580863;2293875;6480464;6907045;8554872 17306896 10187804;10442638;10490457;10490659;10801814;10922377;12477932;14504284;14697235;14702039;15489334;15611134;15695824;16169070;18995835;19146952;19322201;19675578;19730683;19851984;20029029;21139048;21526495;21893036;21900206;22505724;22939624;7790002;7983011;8037767;8637721;8663324;9353328 7786 F8VUG4;H3BMF0;Q12852 AB209453;ABBA01008341;ABBA01008342;ABBA01008343;AC023509;AF283475;AK094195;AK314530;AMYH02026524;AMYH02026525;BC037585;BC050050;CH471054;NM_001193511;NM_006301;U07358;XM_005269138;XM_005269140;XM_006719588;XM_006719589 AAA67343;AAH50050;AAL67158;BAD92690;BAG52841;EAW96712;EAW96713;EAW96714;EAW96715;EAW96716;NP_001180440;NP_006292;Q12852;XP_005269195;XP_005269197;XP_006719651;XP_006719652 Hs.713539 1340023;1650453;1715357;1745099;2145852;5022651;5109281;5492168 D11S2921;D12S1618;D12S2095;D1S1425;G15864;GDB:593999;PMC87148P1;RH120510 DLK;MEKK12;MUK;ZPK;ZPKP1 MAPK-upstream kinase;OTTHUMP00000242300;OTTHUMP00000242301;OTTHUMP00000242302;dual leucine zipper bearing kinase;dual leucine zipper kinase DLK;leucine zipper protein kinase;leucine-zipper protein kinase;mixed lineage kinase;protein kinase MUK;zipper protein kinase APPROVED protein-coding ENSG00000139625 HGNC:6851 02709 600447 REVIEWED 6893004 MAP3K14-AS1 MAP3K14 antisense RNA 1 17 17 17 q21.31 40034668 40055364 + 43325292 43345997 + 45247925 45268630 + 12477932;14702039 100133991 ABBA01028318;AC003963;AC008105;AK097219;AK311429;AK311564;AL710937;AMYH02033512;BC031942;CH471178;DB133288;DB294632;DB466340;HG509112;HG509114;HG509115;HG509116;HG509117;HG509120;HG509121;NR_024434;NR_024435;NR_110324;NR_110325;NR_110326 EAW51531 Hs.668927 1648004;1656743;1664379;1849938;1857718;2165470 RH11891;SHGC-32453;SHGC-7073;STS-D29513;STS-Y10256;WI-16011 RP5-1169K15.1 ncrna ENSG00000267278 HGNC:44359 VALIDATED 1351586 MAP3K13 mitogen-activated protein kinase kinase kinase 13 The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008] 3 3 3 q27 183526871 183646121 + 185000729 185206882 + 185282941 185489094 + 1580863;2293875;6480464;6907045;8554872 17306896 11163770;11726277;12186766;12477932;12492477;14702039;15489334;20379614;21988832;22505724;22623531;22837378;8274451;9353328 9175 C9IYH2;C9J4W2;C9JP65;F8WF41;H7C459;O43283 AB001872;ABBA01058419;ABBA01058420;ABBA01058421;ABBA01058422;ABBA01058423;ABBA01058424;ABBA01058425;AC099661;AC128680;AC132516;AI690808;AK123148;AK296961;AK297646;AK302951;AK312714;AMYH02008321;AMYH02008322;AMYH02008323;AMYH02008324;AMYH02008325;AMYH02008326;BC015996;BC031677;BC036593;BC111726;BQ432918;CH471052;NM_001242314;NM_001242317;NM_004721;NR_038322;Z25428 AAH31677;AAI11727;BAA24817;BAG35589;BAG59505;BAG60014;BAG64106;CAA80915;EAW78224;EAW78225;NP_001229243;NP_001229246;NP_004712;O43283 Hs.591306;Hs.634586 1656530;1688744;1697334;1744317;1774118;1851759;2138203;2179897;5022200;5037552 D8S2279;GDB:451670;L18426;RH102164;RH16526;RH65816;RH81085;SHGC-35912;SHGC-36455;SHGC-77628 LZK;MEKK13;MGC133196;MLK OTTHUMP00000210395;OTTHUMP00000210397;OTTHUMP00000210398;OTTHUMP00000210400;leucine zipper-bearing kinase;mixed lineage kinase APPROVED protein-coding ENSG00000073803 HGNC:6852 05372 604915 REVIEWED 1318115 MAP3K10 mitogen-activated protein kinase kinase kinase 10 The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 37497195 37521034 + 40697504 40721487 + 40191598 40215580 + 1580863;2293875;6480464;6484113;8554872 17306896 10490659;10801775;11076863;11152698;11278395;11416147;11850617;12105200;12477932;12881483;14504284;15062575;15753034;17121608;17584736;18455992;19019082;19332348;19801649;20596961;20936779;21678419;21979919;21988832;23178452;23760366;7731697;8195146;8477742;8536694;9182538;9427749;9516438;9629920;9742220 4294 M0R0A7;M0R1J8;M0R365;Q02779 ABBA01040744;ABBA01040745;ABBA01040746;AC011496;AC118344;AMYH02036104;AMYH02036105;AMYH02036106;BF594729;BU633407;CH471126;NM_002446;X90846;XM_005258948;XM_005258949;XM_006723222;XM_006723223;Z48615 AAI11461;CAA62351;CAA88531;EAW56937;NP_002437;Q02779;XP_005259005;XP_005259006;XP_006723285;XP_006723286 Hs.466743 1797842;2128222 MAP3K10_3063;RH66451 MEKK10;MLK2;MST MKN28 derived nonreceptor_type serine/threonine kinase;MKN28 kinase;mixed lineage kinase 2;protein kinase MST APPROVED protein-coding ENSG00000130758 HGNC:6849 02533 600137 REVIEWED 1347603 MAP3K11 mitogen-activated protein kinase kinase kinase 11 The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008] 11 11 11 q13.1-q13.3 62691942 62708437 - 65365226 65381720 - 65597755 65614338 - 1580863;2298577;2298567;2293875;2293876;6480464;6484113;6907045;7240533;8554872 15680699;17064355;17306896;20626350;8910292 10187804;10490659;10629060;10713178;10799501;11053428;11152698;11306803;11590155;11713255;11784851;11969422;12190962;12354290;12376551;12458207;12477932;12504027;12529434;12917434;14504284;14702039;15001580;15069087;15258589;15489334;15923109;16253996;16344560;16456539;16537381;16687404;16964243;17192257;17584736;17711861;18222647;18624398;18851832;19546888;19586614;19782705;19946888;19955118;20145118;20150185;20158498;20368287;20514022;20890305;20936779;20937558;21880738;21979919;21988832;22078707;22118674;22139075;22509080;22566623;22652451;22700880;22761715;23172226;23857585;23906792;24044867;24912674;8125298;8183572;8195146;9267807;9427749;9430657;9829970 4296 E9PID4;E9PLB1;E9PRQ2;H0YCF5;Q16584 AB209655;ABBA01024108;AK057256;AK090614;AK092015;AK222781;AK299609;AK315557;AK316032;AMYH02024961;AP001362;AU119082;BC011263;BC064543;CH471076;CS079388;L32976;NM_002419;U07747;XR_428915 AAA19647;AAA59859;AAH11263;AAH64543;BAD92892;BAD96501;BAG37933;BAG51893;BAG52196;BAG61538;BAH14403;CAI94235;EAW74417;EAW74418;NP_002410;Q16584 Hs.502872 1662074;1767242;1791546;1795008;1796284;2124385;2136933;2161341;2167397;2191217;5015961;5022322;5022578;5037744 D11S2560;D11S4583;D15S1477;D1S1423;D1S3694;G33123;G33125;MAP3K11_1779;MARC_16324-16325:1017678844:1;MLK3;PMC114715P1;PMC87148P2;STS-R80779;WI-16754 MEKK11;MGC17114;MLK-3;MLK3;PTK1;SPRK OTTHUMP00000233249;OTTHUMP00000233268;SH3 domain-containing proline-rich kinase;mixed lineage kinase 3;protein-tyrosine kinase PTK1;src-homology 3 domain-containing proline-rich kinase APPROVED protein-coding ENSG00000173327 HGNC:6850 02502 600050 REVIEWED 1345894 MAP3K15 mitogen-activated protein kinase kinase kinase 15 The protein encoded by this gene is a member of the mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death triggered by cellular stresses. [provided by RefSeq, Jul 2010] X X X p22.12 23499514 23656927 - 19378174 19533379 - 19360058 19515261 - 6480464;8554872 14702039;15146197;15772651;18029348;20362554;20562859;21139048;22939624 389840 E7EWI5;Q6ZN16 ABBA01071752;ABBA01071753;ABBA01071754;ABBA01071755;ABBA01071756;ABBA01071757;ABBA01071758;ABBA01071759;ABBA01071760;ABBA01071761;ABBA01071762;ABBA01071763;ABBA01071764;ABBA01071765;ABBA01071766;ABBA01071767;ABBA01071768;ABBA01071769;ABBA01071770;ABBA01071771;ABBA01071772;ABBA01071773;ABBA01071774;ABBA01071775;AK122632;AK131412;AK131477;AL732326;AL732423;AMYH02038963;AMYH02038964;AMYH02038965;AMYH02038966;AMYH02038967;AMYH02038968;CH471074;CN293540;DV080548;NG_021184;NM_001001671 BAD18559;BAD18622;BAG53631;EAW98962;EAW98963;NP_001001671;Q6ZN16 Hs.713701 1337599;1645303;1676490;1689646;1701976;1759523;1787230;1791205;1791215;1791227;2145660;5015861;5016478;5020881;5022578;7185938 345L8_T7;442A14_T7;501O24_SP6;D10S16;D1S1423;DXS7592;DXS9734;GDB:434012;GDB:438035;L17709;RH65815;RH81017;RH93821;SHGC-112075;SHGC-152957 ASK3;FLJ16518;bA723P2.3 MAPK/ERK kinase kinase 15;MEK kinase 15;MEKK 15;OTTHUMP00000183505;OTTHUMP00000224565;apoptosis signal-regulating kinase 3 APPROVED protein-coding ENSG00000180815 HGNC:31689 14359 300820 VALIDATED 1604798 MAP3K19 mitogen-activated protein kinase kinase kinase 19 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred) 2 2 2 q21.3 129435196 129495171 - 135722076 135782301 - 134964491 135030487 - 8554872 12477932;14702039;15489334;15815621 80122 A8MWG7;C9JEJ9;C9JGQ2;H7C041;Q56UN5 ABBA01028188;AC016725;AC020602;AK026727;AK097522;AK122935;AK131216;AK309454;AMYH02004838;AMYH02004839;AY574901;AY574902;AY574903;AY574904;AY574905;BC034417;BC137276;BC137277;BC144555;BG484791;BU676900;CH471058;NM_001018044;NM_001018046;NM_001018047;NM_001282883;NM_025052;XM_006712774 AAH34417;AAI37277;AAI37278;AAI44556;AAT81410;AAT81411;AAT81412;AAT81413;AAT81414;AAY14999;BAB15538;EAX11642;EAX11643;NP_001018054;NP_001018056;NP_001018057;NP_001269812;NP_079328;Q56UN5;XP_006712837 Hs.659395 1644808;1696526;1722549;2134766;5015619;5022651;5037552 D11S2921;D11S3114;D8S2279;G16468;G60202;RH46022;SHGC-83250 FLJ23074;RCK;YSK4 OTTHUMP00000082723;OTTHUMP00000083261;OTTHUMP00000083262;OTTHUMP00000083263;OTTHUMP00000083264;SPS1/STE20-related protein kinase YSK4;YSK4 Sps1/Ste20-related kinase homolog;regulated in COPD kinase;regulated in COPD, protein kinase;yeast Sps1/Ste20-related kinase 4 APPROVED protein-coding ENSG00000176601 HGNC:26249 08016 VALIDATED 1354206 MAP3K2 mitogen-activated protein kinase kinase kinase 2 The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [provided by RefSeq, Jul 2008] 2 2 2 q14.3 121373314 121412005 - 128056245 128100805 - 127298669 127343229 - 1580863;2293875;2293879;2298532;6480464;6907045;8554872 16376520;17306896;9305638 10085062;10713157;10818102;11032806;11073940;12477932;12640115;12659851;12912994;14515274;14681216;14702039;14734742;15001576;15075238;15324660;15778465;15815621;15820682;15988011;16001074;17192257;17906693;17979178;18761086;19289468;19318350;19593445;19690195;19773279;19903815;19953087;20098747;20174665;20588253;20830310;20936779;21139048;21804577;21890473;21906983;21988832;22139075;22505724;22939624;23000965;24255178;24491810;24816145;24847881;24975362;7997270;8621389;9162092;9372971;9452471 10746 F8W6K3;Q9Y2U5 AB208963;ABBA01040208;ABBA01040209;AC068282;AC110926;AF111105;AF239798;AI760702;AK027345;AK074577;AK075004;AK093893;AK315007;AMYH02004731;AMYH02004732;BC065755;BC136293;BM470563;BQ423724;CH471103;CS116757;NM_006609;W07290 AAD28547;AAF63496;AAH65755;AAI36294;AAY15043;AAY15070;BAB55050;BAC11348;BAD92200;CAJ15104;EAW95315;EAW95316;NP_006600;Q9Y2U5 Hs.145605 1339366;1659308;1663801;1686865;1697258;1730389;2167378;2179308;5019753;5112149 A009P05;D2S2271;D3S3285E;G32724;RH101970;RH102123;RH71143;RH91915;SHGC-56784;SHGC-58044 MEKK 2;MEKK2;MEKK2B MAP/ERK kinase kinase 2;MAPK/ERK kinase kinase 2;MEK kinase 2;OTTHUMP00000203817;OTTHUMP00000203818 APPROVED protein-coding ENSG00000169967 HGNC:6854 10068 609487 REVIEWED 1321416 MAP3K14 mitogen-activated protein kinase kinase kinase 14 This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008] 17 17 17 q21 40049855 40103781 - 43340488 43394414 - 45263121 45317048 - 1580863;2292172;6480464;6484113;6907045;8554872 18267068 10022904;10072079;10094049;10195894;10521444;10733566;10779355;10807933;10887201;10921914;11002417;11035039;11116146;11239468;11278268;11511100;11585904;11801607;12049732;12185077;12393548;12477932;12853971;12874243;14743126;14743216;15001576;15084608;15208311;15252129;15489334;16009713;16286467;16344560;17158868;17543278;17563756;17620599;17729113;18022362;18029348;18056702;18434448;18439422;18752500;18976975;19262425;19453261;19593445;19641626;19641890;19646419;19897484;19909783;20125184;20184394;20338663;20348096;20385093;20466000;20501937;20682767;20735436;20804734;20823135;20937806;21048031;21257964;21273489;21833088;21846802;21869881;21887257;21900206;21906983;21963094;21963849;22105365;22469134;22474019;22685329;22718757;22939624;22968463;23301098;23536439;23543740;24250222;24362935;9020361;9244310;9275204;9346485;9520446;9689078;9742107;9751059;9799091;9819420;9927690 9020 Q68D39;Q99558 AA564389;ABBA01028318;AC003070;AC003963;AC008105;AK123696;AK131438;AK290203;AK313085;AMYH02033512;AMYH02033513;BC022296;BC035576;BE645094;BU623799;CH471178;CR749592;DA856801;DQ314874;HY096069;HY287427;KF459698;NG_033823;NM_003954;Y10256 AAH35576;ABC40733;ABM84990;BAD18584;BAF82892;CAA71306;CAH18391;EAW51529;EAW51530;NP_003945;Q99558 Hs.404183;Hs.735695 1648004;1656743;1679750;1796286;2157829;2165470;5015322;5015861;5015961;5019070;5020946;5022576;5022651;5024413;5037552;5109281;7185938 D10S16;D10S512;D11S2921;D15S1477;D1S1361;D1S1425;D8S2279;G44334;L17877;L17971;MAP3K14_912;RH15917;RH92291;SHGC-32453;STS-D29513;STS-Y10256 FTDCR1B;HS;HSNIK;NIK NF-kappa-beta-inducing kinase;serine/threonine protein-kinase;serine/threonine-protein kinase NIK APPROVED protein-coding ENSG00000006062 HGNC:6853 05230 604655 REVIEWED 1322520 MAP3K4 mitogen-activated protein kinase kinase kinase 4 The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Several alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, May 2014] 6 6 6 q26 162142470 162267820 + 161412816 161538417 + 160991784 161117385 + 1580863;2293875;2293879;6480464;6484113;6907045;7240533 17306896;20626350;9305638 11498536;12052864;12477932;12878610;14702039;14743220;14968112;15262978;15601262;15866172;15881658;16157600;16256071;17496914;19270716;20221403;20624154;20936779;21097508;21152872;22309839;22547678;22732089;22773346;23760366;24036211;7566098;9039502;9079650;9305639;9482735;9827804;9841871 4216 F5H1X6;F5H2S6;F5H4R1;F5H534;F5H538;J3KNB8;Q9P1M2;Q9Y6R4 AA314177;ABBA01015151;AF002715;AF116604;AK124430;AK307866;AL109942;AL139393;AL591045;AL596452;AMYH02014889;AMYH02014890;BC136276;BC143735;BC143743;BC143750;BC146770;BE278366;BQ009477;CH471051;D86968;KF458343;NM_001291958;NM_001301072;NM_005922;NM_006724;NR_120425;XM_005266988;XM_005266989;XR_245517 AAB68804;AAF71029;AAI36277;AAI43736;AAI46771;BAA13204;EAW47586;EAW47587;NP_001278887;NP_001288001;NP_005913;NP_006715;Q9Y6R4;XP_005267045;XP_005267046 Hs.390428 1656475;1669543;1721397;1770362;1772665;1780200;2149112;2153671;2153673;2217590;5017875 G59700;MAP3K4;MAP3K4_3336;RH25424;RH46613;RH46673;RH46702;SHGC-154618;SHGC-30412;STS-H27759;WI-18238 FLJ42439;KIAA0213;MAPKKK4;MEKK 4;MEKK4;MTK1;PRO0412 MAP three kinase 1;MAP/ERK kinase kinase 4;MAPK/ERK kinase kinase 4;MEK kinase 4;OTTHUMP00000017559;OTTHUMP00000017560;OTTHUMP00000239074;OTTHUMP00000239075;OTTHUMP00000239076;SSK2/SSK22 MAP kinase kinase kinase, yeast, homolog of;dJ473J16.1 (mitogen-activated protein kinase kinase kinase 4);predicted protein of HQ0412 APPROVED protein-coding ENSG00000085511 HGNC:6856 03886 602425 REVIEWED 1312092 MAP3K3 mitogen-activated protein kinase kinase kinase 3 This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 17 17 17 q23.3 56087919 56161790 + 61699404 61773670 + 63622044 63696310 + 1580863;2293891;2293875;2293879;2298532;6480464;6484113;6907045;7240533 16376520;17306896;17481747;20626350;9305638 10085062;10593883;10700190;11073940;11076863;11230166;11256614;11429546;12065326;12391307;12392720;12477932;12761501;12813044;12912994;14661019;14662759;14681216;14702039;1474216;14743216;15001576;15047705;15205325;15489336;15572679;16039990;16126726;16169070;16260783;16381901;16407301;16737960;16861740;17197697;17985933;18308725;18391951;19265138;19318350;19560753;19843958;19903815;19913121;19953087;20068038;20448038;20495538;20615764;20628086;20936779;21900206;21988832;21998595;22021425;22105580;24383423;24418622;24975362;8125298;8889548;9006902;9162092;9452471 4215 J3KRN4;J3KTC4;J3QRB6;J3QS19;J3QS54;Q99759 ABBA01035326;ABBA01035327;AC046185;AF172823;AK022333;AK225784;AK308152;AK315305;AL834303;AMYH02033776;AX775739;AX775741;BC008336;BC010464;BC018021;BC090859;BC093672;BC093674;BC143224;BC143235;BM479726;BM728104;BM800091;BQ643432;BU633068;CH471109;CQ760470;DQ454151;NM_002401;NM_203351;U78876;XM_005257376;XM_005257377;XM_005257378;XM_006721909 AAB41729;AAH08336;AAH90859;AAH93672;AAH93674;AAQ13617;ABE11554;BAG37709;CAD38973;CAE11569;CAE11570;CAF32906;CAL37711;EAW94297;EAW94298;EAW94299;NP_002392;NP_976226;Q99759;XP_005257433;XP_005257434;XP_005257435;XP_006721972 Hs.29282 1647003;1706748;1770483;1851745;2158337;2191439;5015619;5015961;5022200;5022450;5024761;5037552 D10S275;D11S3114;D15S1477;D17S1562;D8S2279;L18426;MARC_21879-21880:1041541704:1;RH18305;RH36905;SHGC-80835;WI-11047;WI-17510 MAPKKK3;MEKK 3;MEKK3 MAP/ERK kinase kinase 3;MAPK/ERK kinase kinase 3;MEK kinase 3 APPROVED protein-coding ENSG00000198909 HGNC:6855 03965 602539 REVIEWED 733801 MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012] 5 5 5 q11.2 53065179 53146179 + 56110900 56191979 + 56815073 56896152 + 1580863;1357969;737800;2289657;2293875;2293879;2293357;2293356;6480464;6484113;6907045;8699517;8554872;7240710 12835716;17306896;17529967;17997823;18036273;9305638;9836645 10346818;10465784;10523642;10611349;10713157;10805784;10829020;10969079;11057907;11746500;11756439;11782455;11784851;11815602;11884395;11903060;11971970;11971971;12048245;12049732;12079429;12185592;12223491;12228228;12456688;12584189;12600818;12763138;12796506;12878610;14500727;14581471;14612408;14743216;14968112;15001576;15161980;15205333;15276183;15299005;15684388;15829968;15866172;16044153;16046415;16286467;16344560;16434970;16469706;16472679;16636664;16714289;16760432;17301822;17397260;17620599;17889508;17906693;18032450;18287093;18308848;18355772;18420486;18434448;18437204;18467339;18521924;18784253;18785201;18973230;18984593;19028704;19094228;19232126;19262425;19270716;19289468;19330030;19453261;19513748;19593445;19617217;19690564;19789366;19843670;19913121;20128690;20145138;20237344;20301714;20417875;20453838;20554749;20605201;20628086;20686565;20809358;20923779;20940704;21048223;21129722;21139048;21152872;21336309;21364884;21512573;21906983;21921033;21963094;22053931;22110214;22468730;22990118;23209189;23225170;23535729;23634849;23754948;23966867;24097068;24135036;24204828;24253898;8597633;9008162;9135144;9405400;9452471;9563508;9689078;9712898;9733714;9808624;9819420 4214 Q13233 AA602425;ABBA01015768;AC008937;AF042838;AK307828;AMYH02011332;BU194120;BX537527;DA889202;NG_031884;NM_005921;U29671;XM_005248519;XM_005248520 AAB05828;AAC97073;NP_005912;Q13233;XP_005248576;XP_005248577 Hs.653654 1649714;1718165;1799156;1799158;1799378;1800766;1801098;1801982;1802056;1803420;1803618;1803902;1805510;1805624;1805684;1806030;1806484;1808770;1808772;1808914;1809196;1809358;1809444;1809512;1810216;1811104;1811106;1811270;1811404;1811488;1814296;1814298;1814728;1814730;1814886;1815190;1815568;1816506;1816792;1817514;1818760;1818902;1819620;1820378;1820628;1820872;1821618;1822200;1822404;1823282;1823838;1824458;1824460;1824676;1824748;1825936;1826104;1826620;1827078;1827266;1828178;1829912;1830026;1830868;1831346;1831486;1831782;1832054;1832144;1833162;1834892;1835394;1835752;1836782;1837680;1837886;1837928;1839326;1839672;1841894;1842004;1842600;1842934;1845354;1845538;1858670;1914372;1914374;1914376;1914378;1914380;1914382;1914384;1914386;1914388;1914390;1914392;1914394;1914396;1914398;1914400;1914402;1914404;1914406;1914408;1914410;1914412;1914414;1914416;1914418;1914420;1914422;1914424;1914426;1914428;1914430;1914432;1914434;1914436;1914438;1914440;1914442;1914444;1914446;1914448;1914450;1914452;1914454;1914456;1914458;1914460;1914462;1914464;1914466;1914468;1914470;1914472;1914474;1914476;1914478;1914480;1914482;1914484;1914486;1914488;1914490;1914492;1914494;1914496;1914498;1914500;1914502;1914504;1914506;1914508;1914510;1914512;1914514;1914516;1914518;1914520;1914522;1914524;1914526;1914528;1914530;1914532;1914534;1914536;1914538;1914540;1914542;1914544;1914546;1914548;1914550;1914552;1914554;1914556;1914558;1914560;1914562;1914564;1914566;1914568;1914570;1914572;1914574;1914576;1914578;1914580;1914582;1914584;1914586;1914588;1914590;1914592;1914594;1914596;1914598;1914600;1914602;1914604;1914606;1914608;1914610;1914612;1914614;1914616;1914618;1914620;1914622;1914624;1914626;1914628;1914630;1914632;1914634;1914636;1914638;1914640;1914642;1914644;1914646;1914648;1914650;1914652;1914654;1914656;1914658;1914660;1914662;1914664;1914666;1914668;1914670;1914672;1914674;1914676;1914678;1914680;1914682;1914684;1914686;1914688;1914690;1914692;1914694;1914696;1914698;1914700;1914702;1914704;1914706;1914708;1914710;1914712;1914714;1914716;1914718;1914720;1914722;1914724;1914726;1914728;1914730;1914732;1914734;1914736;1914738;1914740;1914742;1914744;1914746;1914748;1914750;1914752;1914754;1914756;1914758;1914760;1914762;1914764;1914766;1914768;1914770;1914772;1914774;1914776;1914778;1914780;1914782;1914784;1914786;1914788;1914790;1914792;1914794;1914796;1914798;1914800;1914802;1914804;1914806;1914808;1914810;1914812;1914814;1914816;1914818;1914820;1914822;1914824;1914826;1914828;1914830;1914832;1914834;1914836;1914838;1914840;1914842;1914844;1914846;1914848;1914850;1914852;1914854;1914856;1914858;1914860;1914862;1914864;1914866;1914868;1914870;1914872;1914874;1914876;1914878;1914880;1914882;1914884;1914886;1914888;1914890;1914892;1914894;1914896;1914898;1914900;1914902;1914904;1914906;1914908;1914910;1914912;1914914;1914916;1914918;1914920;1914922;1914924;1914926;1914928;1914930;1914932;1914934;1914936;1914938;1914940;1914942;1914944;1914946;1914948;1914950;1914952;1914954;1914956;1914958;1914960;1914962;1914964;1914966;1914968;1914970;1914972;1914974;1914976;1914978;1914980;1914982;1914984;1914986;1914988;1914990;1914992;1914994;1914996;1914998;1915000;1915002;1915004;1915006;1915008;1915010;1915012;1915014;1915016;1915018;1915020;1915022;1915024;1915026;1915028;1915030;1915032;1915034;1915036;1915038;1915040;1915042;1915044;1915046;1915048;1915050;1915052;1915054;1915056;1915058;1915060;1915062;1915064;1915066;1915068;1915070;1915072;1915074;1915076;1915078;1915080;1915082;1915084;1915086;1915088;1915090;1915092;1915094;1915096;1915098;1915100;1915102;1915104;1915106;2205790;2205792;2205794;2205796;2205798;2205800;2205802;2205804;2205806;2205808;2205810;2205812;2205814;2205816;2205818;2205820;2205822;2205824;2205826;2205828;2205830;2205832;2205834;2205836;2205838;2205840;2205842;2205844;2205846;2205848;2205850;2205852;2205854;2205856;2205858;2205860;2205862;2205864;2205866;2205868;2205870;2205872;2205874;2205876;2205878;2205880;2205882;2205884;2205886;2205888;2205890;2205892;2205894;2205896;2205898;2205900;2205902;2205904;2205906;2205908;2205910;2205912;2205914;2205916;2205918;2217588 ECD00424;ECD00425;ECD00539;ECD01245;ECD01418;ECD01872;ECD01909;ECD02607;ECD02715;ECD02864;ECD03703;ECD03762;ECD03792;ECD03968;ECD04199;ECD05368;ECD05369;ECD05440;ECD05588;ECD05670;ECD05714;ECD05748;ECD06100;ECD06550;ECD06551;ECD06633;ECD06700;ECD06744;ECD08177;ECD08178;ECD08395;ECD08396;ECD08474;ECD08630;ECD08820;ECD09295;ECD09442;ECD09807;ECD10444;ECD10515;ECD10877;ECD11264;ECD11389;ECD11512;ECD11895;ECD12186;ECD12290;ECD12730;ECD13011;ECD13327;ECD13328;ECD13436;ECD13472;ECD14077;ECD14161;ECD14424;ECD14654;ECD14748;ECD15214;ECD16089;ECD16146;ECD16570;ECD16809;ECD16880;ECD17028;ECD17165;ECD17210;ECD17723;ECD18596;ECD18852;ECD19037;ECD19555;ECD20007;ECD20113;ECD20135;ECD20844;ECD21019;ECD22149;ECD22205;ECD22507;ECD22675;ECD23894;ECD23987;ECD24536;MAP3K1_3196;REN27995;REN27996;REN27997;REN27998;REN27999;REN28000;REN28001;REN28002;REN28003;REN28004;REN28005;REN28006;REN28007;REN28008;REN28009;REN28010;REN28011;REN28012;REN28013;REN28014;REN28015;REN28016;REN28017;REN28018;REN28019;REN28020;REN28021;REN28022;REN28023;REN28024;REN28025;REN28026;REN28027;REN28028;REN28029;REN28030;REN28031;REN28032;REN28033;REN28034;REN28035;REN28036;REN28037;REN28038;REN28039;REN28040;REN28041;REN28042;REN28043;REN28044;REN28045;REN28046;REN28047;REN28048;REN28049;REN28050;REN28051;REN28052;REN28053;REN28054;REN28055;REN28056;REN28057;REN28058;REN28059;REN28060;REN28061;REN28062;REN28063;REN28064;REN28065;REN28066;REN28067;REN28068;REN28069;REN28070;REN28071;REN28072;REN28073;REN28074;REN28075;REN28076;REN28077;REN28078;REN28079;REN28080;REN28081;REN28082;REN28083;REN28084;REN28085;REN28086;REN28087;REN28088;REN28089;REN28090;REN28091;REN28093;REN28094;REN28095;REN28096;REN28097;REN28098;REN28099;REN28100;REN28101;REN28102;REN28103;REN28104;REN28105;REN28106;REN28107;REN28108;REN28109;REN28110;REN28111;REN28112;REN28113;REN28114;REN28115;REN28116;REN28117;REN28118;REN28119;REN28120;REN28121;REN28122;REN28123;REN28124;REN28125;REN28126;REN28127;REN28128;REN28129;REN28130;REN28131;REN28132;REN28133;REN28134;REN28135;REN28136;REN28137;REN28138;REN28139;REN28140;REN28141;REN28142;REN28143;REN28144;REN28145;REN28146;REN28147;REN28148;REN28149;REN28150;REN28151;REN28152;REN28153;REN28154;REN28155;REN28156;REN28157;REN28158;REN28159;REN28160;REN28161;REN28162;REN28163;REN28164;REN28165;REN28166;REN28167;REN28168;REN28169;REN28170;REN28171;REN28172;REN28173;REN28174;REN28175;REN28176;REN28177;REN28178;REN28179;REN28180;REN28181;REN28182;REN28183;REN28184;REN28185;REN28186;REN28187;REN28188;REN28189;REN28190;REN28191;REN28192;REN28193;REN28194;REN28195;REN28196;REN28197;REN28198;REN28199;REN28200;REN28201;REN28202;REN28203;REN28204;REN28205;REN28206;REN28207;REN28208;REN28209;REN28210;REN28211;REN28212;REN28213;REN28214;REN28215;REN28216;REN28217;REN28218;REN28219;REN28220;REN28221;REN28222;REN28223;REN28224;REN28225;REN28226;REN28227;REN28228;REN28229;REN28230;REN28231;REN28232;REN28233;REN28234;REN28235;REN28236;REN28237;REN28238;REN28239;REN28240;REN28241;REN28242;REN28243;REN28244;REN28245;REN28246;REN28247;REN28248;REN28249;REN28250;REN28251;REN28252;REN28253;REN28254;REN28255;REN28256;REN28257;REN28258;REN28259;REN28260;REN28261;REN28262;REN28263;REN28264;REN28265;REN28266;REN28267;REN28268;REN28269;REN28270;REN28271;REN28272;REN28273;REN28274;REN28275;REN28276;REN28277;REN28278;REN28279;REN28280;REN28281;REN28282;REN28283;REN28284;REN28285;REN28286;REN28287;REN28288;REN28289;REN28290;REN28291;REN28292;REN28293;REN28294;REN28295;REN28296;REN28297;REN28298;REN28299;REN28300;REN28301;REN28302;REN28303;REN28304;REN28305;REN28306;REN28307;REN28308;REN28309;REN28310;REN28311;REN28312;REN28313;REN28314;REN28315;REN28316;REN28317;REN28318;REN28319;REN28320;REN28321;REN28322;REN28323;REN28324;REN28325;REN28326;REN28327;REN28328;REN28329;REN28330;REN28331;REN28332;REN28333;REN28334;REN28335;REN28336;REN28337;REN28338;REN28339;REN28340;REN28341;REN28342;REN28343;REN28344;REN28345;REN28346;REN28347;REN28348;REN28349;REN28350;REN28351;REN28352;REN28353;REN28354;REN28355;REN28356;REN28357;REN28358;REN28359;REN28360;REN28361;REN28362;REN28363;RH122850;RH70595;stSG625092;stSG625095;stSG625096;stSG625097;stSG625098;stSG625099;stSG625100;stSG625101;stSG625102;stSG625103;stSG625104;stSG625105;stSG625106;stSG625107;stSG625108;stSG625109;stSG625110;stSG625111;stSG625112;stSG625113;stSG625114;stSG625115;stSG625116;stSG625117;stSG625118;stSG625119;stSG625120;stSG625122;stSG625123;stSG625124;stSG625125;stSG625126;stSG625127;stSG625128;stSG625129;stSG625130;stSG625131;stSG625132;stSG625133;stSG625134;stSG625135;stSG625136;stSG625137;stSG625138;stSG625139;stSG625140;stSG625141;stSG625142;stSG625143;stSG625144;stSG625145;stSG625146;stSG625147;stSG625148;stSG625149;stSG625150;stSG625151;stSG625152;stSG625153;stSG625154;stSG625155;stSG625156;stSG625157;stSG625158;stSG625159 MAPKKK1;MEKK;MEKK 1;MEKK1;SRXY6 MAP/ERK kinase kinase 1;MAPK/ERK kinase kinase 1;MEK kinase 1;OTTHUMP00000065818;mitogen-activated protein kinase kinase kinase 1 APPROVED protein-coding ENSG00000095015 HGNC:6848 600982;613762 REVIEWED 1347445 MAP3K7CL MAP3K7 C-terminal like FOUND IN cytosol; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; chromium(6+) 21 21 21 q22.3 15636331 15731645 + 30449659 30548210 + 29077471 29175889 + 6480464 10830953;11076863;11230166;11707072;12477932;14702039;14759258;15168726;15489334;15489336;16189514;16381901;16780588;21988832;23259602 56911 B0EVZ6;B0EVZ7;B0EVZ8;B4DFW0;C9J990;C9JLK6;P57077 ABBA01057251;ABBA01057252;ABBA01057253;ABBA01057254;ABBA01057255;ABBA01057256;ABBA01057257;AF124730;AF129075;AF269161;AF269162;AF269163;AF269164;AK056341;AK122780;AK294287;AK309998;AL163249;AL713701;AMYH02037690;AMYH02037691;AMYH02037692;AY033900;AY171599;BC008567;BG566433;BI911525;BX108010;CH471079;EF219157;EF219158;EF219159;EF219160;FB659856;KF457182;KF457183;KF457184;KF457189;NM_001286617;NM_001286618;NM_001286619;NM_001286620;NM_001286622;NM_001286623;NM_001286624;NM_001286634;NM_020152;XM_006724033 AAF81751;AAF81752;AAF81753;AAF81754;AAH08567;AAK68718;AAO16519;ABN09903;ABN09904;ABN09905;ABN09906;BAG51683;BAG57571;CAB90434;CAD28500;CAL38552;CAL38649;CAS01782;EAX09918;EAX09919;EAX09920;EAX09921;EAX09922;EAX09923;NP_001273546;NP_001273547;NP_001273548;NP_001273549;NP_001273551;NP_001273552;NP_001273553;NP_001273563;NP_064537;P57077;XP_006724096 Hs.222802 1767908;2177023 SHGC-87526;STS-H89679 C21orf7;HC21ORF7;TAK1L;TAKL;TAKL-1;TAKL-2;TAKL-4 MAP3K7 C-terminal-like protein;OTTHUMP00000096476;OTTHUMP00000096477;TAK1-like protein;TAK1-like protein 1;TAK1-like protein 2;TAK1-like protein 4;TGF-beta activated kinase APPROVED protein-coding ENSG00000156265 HGNC:16457 10764 611110 VALIDATED 1352186 MAP3K9 mitogen-activated protein kinase kinase kinase 9 ENCODES a protein that exhibits protein serine/threonine kinase activity; JUN kinase kinase kinase activity (ortholog); protein homodimerization activity (ortholog); INVOLVED IN protein autophosphorylation; protein phosphorylation; activation of JNKK activity (ortholog); PARTICIPATES IN c-Jun N-terminal kinases MAPK signaling pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH crocidolite asbestos; formaldehyde; quercetin 14 14 14 q24.2 51258808 51339845 - 71189243 71275912 - 70722526 70809193 - 2293875;6480464;8554872 17306896 11416147;12477932;14504284;14702039;15489334;15610029;16344560;18976975;19826002;20379614;21107309;22197930;22939624;23836671;8195146;8477742;8536694 4293 B4DZC4;G3V347;G3V4P9;J3KPI6;P80192;Q8NEB1 ABBA01030809;ABBA01030810;ABBA01030811;AC004816;AF251442;AK091645;AK123430;AK294571;AK299727;AK302849;AMYH02029452;AMYH02029453;AMYH02029454;AY327900;BC033197;BC040716;BC043010;BC111407;BC133706;BX648924;CH471061;DB099391;NM_001284230;NM_001284231;NM_001284232;NM_033141;XM_005267683;XM_006720149;XM_006720150 AAG44591;AAH33197;AAI11408;AAI33707;AAQ23054;BAG52397;BAG57765;BAG61625;BAG64036;EAW81045;EAW81046;NP_001271159;NP_001271160;NP_001271161;NP_149132;P80192;XP_005267740;XP_006720212;XP_006720213 Hs.445496;Hs.593542 1662389;1667452;1690822;1704438;1705910;1717221;1847420;2110511;2110877;2121287;2127192;2135155;2144900;5015961;5037552;5108028;7183844 D14S102E;D14S1292;D15S1477;D8S2279;G36245;G36246;G38082;G38287;G38295;G38333;L17738;MAP3K9_3244.2;RH11238;RH122025;SHGC-78084;SHGC-82925 MEKK9;MLK1;PRKE1 OTTHUMP00000245576;OTTHUMP00000245577;OTTHUMP00000245578;OTTHUMP00000245579;OTTHUMP00000245580;mixed lineage kinase 1 (tyr and ser/thr specificity) protein-coding ENSG00000006432 HGNC:6861 15965 600136 VALIDATED 1343248 MAP4 microtubule-associated protein 4 The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 3 3 3 p21 47842039 48079819 - 47892180 48130769 - 47850690 48089279 - 1580863;6480464 10341201;10542369;10791892;11683421;12079337;12123579;12477932;12773533;12855424;12890753;14527689;14594945;14702039;14759258;1477887;15123239;15144186;15302935;15489334;15528234;15604093;15840946;16009940;16093351;16169070;16344560;16565220;16804917;16964243;17081983;1718985;17474147;18029348;18187620;18613117;18781797;18854154;1905296;19367581;19380743;19531213;19596686;19738201;19834535;20020773;20391533;20562859;20972266;21044950;21139048;21145461;21822276;21890473;21900206;21906983;21907836;21909110;21988832;22018492;22164227;22298430;22586326;22863883;22939629;22952844;23000965;23151878;23314748;23572511;23824909;24140250;24332808;24639526;24816145;7857940;7876309;7909279;8619474;8631898;9110174;9365275;9398320 4134 B4DSQ1;B5MEG9;E7EVA0;F8W9U4;H0Y2V1;H7C456;H7C4C5;P27816 AA206810;AA447222;AA904866;AB209377;ABBA01024659;ABBA01024660;ABBA01024661;ABBA01024662;ABBA01024663;ABBA01024664;ABBA01024665;ABBA01024666;ABBA01024667;ABBA01024668;ABBA01024669;AC124916;AC139667;AF052156;AF454938;AI078534;AK054577;AK054696;AK091042;AK125245;AK297242;AK299854;AK307606;AL831878;AMYH02006706;AMYH02006707;AMYH02006708;AMYH02006709;AMYH02006710;AMYH02006711;AMYH02006712;BC008715;BC012794;BC015149;BC019229;BC048200;BC051843;BC067228;BG760540;BI549723;CH471055;CR749544;DA114613;DA150735;DC343259;M64571;NM_001134364;NM_002375;NM_030885;U19727;XM_005265133;XM_005265134;XM_005265135;XM_005265138;XM_005265139;XM_005265147;XM_005265155;XM_005265157;XM_005265158;XM_005265159;XM_006713140;XM_006713141;XM_006713142;XM_006713143;XM_006713144;XM_006713145;XM_006713146;XM_006713147;XM_006713148;XM_006713149;XM_006713150;XM_006713151;XM_006713152;XM_006713153;XM_006713154;XM_006713155;XM_006713156;XM_006713157;XM_006713158;XM_006713159;XM_006713160;XM_006713161;XM_006713162;XM_006713163 AAA59553;AAA67361;AAH08715;AAH12794;AAH15149;AAH19229;AAH48200;AAH51843;AAH67228;AAP97697;ACE86527;ACE87206;BAB70795;BAC86099;BAD92614;BAG59722;BAG61713;CAD38562;CAH18346;EAW64837;EAW64838;EAW64839;EAW64840;EAW64841;EAW64842;EAW64843;EAW64844;EAW64845;EAW64846;EAW64847;EAW64848;NP_001127836;NP_002366;NP_112147;P27816;XP_005265190;XP_005265191;XP_005265192;XP_005265195;XP_005265196;XP_005265204;XP_005265212;XP_005265214;XP_005265215;XP_005265216;XP_006713203;XP_006713204;XP_006713205;XP_006713206;XP_006713207;XP_006713208;XP_006713209;XP_006713210;XP_006713211;XP_006713212;XP_006713213;XP_006713214;XP_006713215;XP_006713216;XP_006713217;XP_006713218;XP_006713219;XP_006713220;XP_006713221;XP_006713222;XP_006713223;XP_006713224;XP_006713225;XP_006713226 Hs.517949 1335084;1338779;1342285;1680835;1682700;1698532;1705686;1730383;1732061;1735108;1735134;1735178;1750763;1759357;1759665;1767967;1767982;1774180;1778248;1797140;2128119;2145446;2152186;2159380;2167904;2168065;5015619;5037554;7184699 D11S3114;D3F293S1;D3S1322E;D3S2420;D3S2785E;D3S2798E;D3S2823E;D3S3640;D3S3729;D3S3908;D3S3939;D8S2282;MAP4;RH102817;RH11703;RH28396;RH46453;RH79999;SHGC-102208;SHGC-150988;SHGC-150989;SHGC-63486;SHGC-63487;SHGC-76914;SHGC-76920;SHGC-83423;STS-M64571;STS-T95605 DKFZp779A1753;MAP-4;MGC8617 OTTHUMP00000210722;OTTHUMP00000210723;OTTHUMP00000210725;OTTHUMP00000210726;OTTHUMP00000210727;OTTHUMP00000210730 APPROVED protein-coding ENSG00000047849 HGNC:6862 01141 157132 REVIEWED 1315043 MAP3K5 mitogen-activated protein kinase kinase kinase 5 Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008] 6 6 6 q22.33 137618672 137854128 - 136878184 137113656 - 136557040 136793047 - 1580863;2293891;2296020;2298708;2293875;6480464;6484113;6907045;7240533;8554872 12215209;12524169;17306896;17481747;20626350 10411906;10523862;10734135;10843682;10921914;11003656;11090355;11096076;11154276;11278289;11298454;11323689;11336675;11356842;11416155;11427728;11493600;11495919;11689443;11920685;11959862;12050113;12077134;12089063;12189133;12244106;12372597;12391142;12473108;12477932;12482984;12543931;12556535;12566458;12697749;12813029;12819028;12820963;12912994;12968034;14574404;14607843;14668338;14688258;14743220;14761963;14968112;15023544;15094778;15210709;15218033;15246877;15258908;15299005;15310755;15328343;15489334;15670787;15701637;15755722;15782121;15843568;15864780;15866172;15925322;15983381;16038411;16316999;16407264;16476732;16512785;16515547;16532036;16636664;16644673;16648474;16709866;17015619;17210579;17220297;17244475;17292829;17325029;17331470;17331951;17389591;17456047;17541429;17543279;17595347;17652454;17724081;17827388;17883330;17937911;18028450;18054391;18178252;18211888;18219322;18292600;18327563;18380010;18501712;18759454;18776134;18822283;18841476;19001375;19004820;19149577;19287004;19293155;19306926;19351724;19449444;19570911;19590015;19748889;19782076;19789334;19880523;19903888;19913121;19920149;19935702;19940360;19953087;19961619;20005844;20035634;20048146;20068037;20130137;20185809;20213747;20349136;20364819;20379614;20385180;20430109;20448643;20512919;20562859;20601186;20609399;20628086;20661259;20674765;20800594;20843792;20936779;21187402;21378396;21383696;21496457;21510938;21594902;21725208;21738216;21764682;21771788;22095282;22110360;22167179;22197930;22399290;22609355;22723553;22844345;22925655;22939624;23015639;23031789;23087182;23102700;23219526;23319048;23382671;23416061;23556445;23569274;23580093;23744074;23747528;23799149;23847689;23982205;23986795;24008424;24082073;24448648;24912301;8940179;8974401;9465908;9564042;9651337;9743501;9774977;9875215 4217 Q99683 AB209093;ABBA01025825;ABBA01025826;AK293953;AK294507;AK310942;AL024508;AL121933;AMYH02014559;AMYH02014560;AMYH02014561;BC054503;BC088829;CH471051;D84476;NG_011965;NM_005923;U67156;XM_005266990;XM_005266991;XM_005266992;XM_006715482 AAC50894;AAH54503;AAH88829;BAA12684;BAD92330;BAG57328;BAG57723;EAW47942;NP_005914;Q99683;XP_005267047;XP_005267048;XP_005267049;XP_006715545 Hs.186486 1647478;1693586;1696524;1696548;1697724;1698376;1699290;1753761;1796288;2116150;2134035;2159273;2190781;5125470 D6S1974;D6S2004;FCA844;MAP3K5_913;RH102384;RH102729;RH103229;RH46739;SHGC-100583;SHGC-58491;SHGC-78146;SHGC-83246;STS-N39603;WI-13489 ASK-1;ASK1;MAPKKK5;MEKK 5;MEKK5 MAP/ERK kinase kinase 5;MAPK/ERK kinase kinase 5;MEK kinase 5;OTTHUMP00000017275;apoptosis signal regulating kinase 1;apoptosis signal-regulating kinase 1 APPROVED protein-coding ENSG00000197442 HGNC:6857 03904 602448 REVIEWED 1312170 MAP3K6 mitogen-activated protein kinase kinase kinase 6 This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 p36.11 26078953 26090620 - 27681670 27693558 - 27355179 27367054 - 1580863;6480464;6484113;6907045 11689443;12477932;17210579;17714688;18327563;19214184;19246638;19913121;19935702;20562859;20628086;21139048;21906983;21963094;21987572;22939624;9875215 9064 H0Y894;H0Y8A3;JE0363;O95382 AB167411;AB208805;ABBA01034970;AF100318;AI582755;AI658745;AMYH02000599;AW771625;BC015914;BC109032;BC129950;BC129951;BF115137;CH471059;FO393419;NM_001297609;NM_004672;XM_005246029;XR_241205 AAD05304;AAH15914;AAI09033;AAI29951;AAI29952;BAD12485;BAD92042;EAX07758;JE0363;NP_001284538;NP_004663;O95382;XP_005246086 Hs.194694 1685722 RH94083 ASK2;MAPKKK6;MEKK6;MGC125653;MGC20114 OTTHUMP00000005063;OTTHUMP00000005064;OTTHUMP00000179079;apoptosis signal regulating kinase 2;apoptosis signal-regulating kinase 2 APPROVED protein-coding ENSG00000142733 HGNC:6858 05126 604468 REVIEWED 731488 MAP3K8 mitogen-activated protein kinase kinase kinase 8 This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011] 10 10 10 p11.23 30487787 30515686 + 30722950 30750762 + 30434021 30461833 + 1580863;6480464;6907045;7240710;7240533;8699517 20626350 10072079;10669751;10896655;11278268;11932422;12138205;12477932;12667451;12975377;14517305;14743216;15164054;15169888;15188402;15287022;15466476;15489334;15575964;15670770;16087150;16291755;16344560;16371247;16385451;16565081;16806191;17290588;17324460;17398070;17724252;17848581;18029348;18187448;18319612;1833717;18439422;18518937;18572386;18795070;18984674;19001140;19054068;19272346;19804365;19939924;19953087;20227498;20379614;20487506;20603871;2072910;20945381;21107320;21267413;21539449;21741362;21868363;21988832;22197930;22939624;23125217;23128233;23252623;23322277;23527104;23533274;23828905;23982215;24275658;24404585;24723682;8226782;8479752;8631303;8889549;9257820;9603908;9742107;9950430 1326 P41279;Q5T853;Q5T854;Q5T857 AA156603;AB209539;ABBA01034343;ABBA01034344;AK290320;AK313295;AL161651;AL547407;AMYH02022560;AY309013;BC104833;BC113566;CH471072;CR542284;D14497;DA308072;DB271664;NG_029984;NM_001244134;NM_005204;XM_005252364;XM_005252366;XM_006717377;Z14138 AAI04834;AAI13567;AAP45053;ADR83009;BAA03387;BAD92776;BAF83009;BAG36102;CAA78512;CAG47079;EAW86004;EAW86005;EAW86006;EAW86007;NP_001231063;NP_005195;P41279;XP_005252421;XP_005252423;XP_006717440 Hs.432453;Hs.731448 1695666;2109493;2168862;2187125 MAP3K8_915;SHGC-35244;SHGC-78707;WI-14992 COT;EST;ESTF;FLJ10486;MEKK8;TPL2;Tpl-2;c-COT Cancer Osaka thyroid oncogene;Ewing sarcoma transformant;OTTHUMP00000019392;OTTHUMP00000019393;cot (cancer Osaka thyroid) oncogene;proto-oncogene c-Cot;proto-oncogene serine/threoine protein kinase;serine/threonine-protein kinase cot;tumor progression locus 2;tumor progression locus-2 APPROVED protein-coding ENSG00000107968 HGNC:6860 01863 191195;211980 REVIEWED 1346481 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q11.2-q21 30752350 30866424 - 50885211 50999376 - 50418493 50532658 - 1580863;6480464;6484113 10477597;10490605;10648385;12477932;12591926;14702039;15146197;15489334;16699725;17192257;17474147;18029348;19322201;19380743;19953087;20125193;20936779;21139048;21900206;21906983;24347629;8274451;9038372;9788432;9949177 11183 B3KWC4;G3V3V7;G3V4Q4;G3V4T8;G3V5C6;Q9Y4K4 ABBA01018136;ABBA01018137;ABBA01018138;AK124738;AK313612;AL118556;AMYH02029169;BC013159;BC036013;CB959746;CB990293;CH471078;CN343360;FB775504;FB775506;NM_006575;NM_198794;U77129;XM_006720013;XM_006720014;Z25426 AAB48435;AAH36013;ABM85112;BAG36375;BAG54086;CAA80913;CAV30709;CAV30710;EAW65710;EAW65711;EAW65712;EAW65713;NP_006566;NP_942089;Q9Y4K4;XP_006720076;XP_006720077 Hs.130491 1797846;2116337;2116485;2123273;2141419;2145158;2149547;5022651;5108741 D11S2921;D14S158;D14S955;G35390;G35831;MAP4K5_2192;RH66715;SHGC-64061;WI-18091 GCKR;KHS;KHS1;MAPKKKK5 MAPK/ERK kinase kinase kinase 5;MEK kinase kinase 5;MEKKK 5;OTTHUMP00000244662;germinal center kinase-related;kinase homologous to SPS1/STE20 APPROVED protein-coding ENSG00000012983 HGNC:6867 05374 604923 REVIEWED 1319782 MAP3K7 mitogen-activated protein kinase kinase kinase 7 The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 6 6 6 q15 91646249 91717462 - 91223292 91297020 - 90513573 90587301 - 2293891;2298803;2298758;2293875;2298805;5490218;5490215;5685014;6480464;6484113;6907045;7240533;5490225;8554872 12967473;16183734;17306896;17481747;17785553;18535784;20086235;20626350;21135871;21235323 10022904;10066798;10094049;10187861;10195894;10224067;10702308;10748100;10779355;10807933;10838074;10882101;10921914;11104763;11118615;11259596;11397816;11460167;11544529;11585904;11737269;11809792;11865055;12048196;12089335;12242293;12296995;12372426;12429732;12477932;12496252;12547194;12556533;12589052;12609980;12804775;12842894;12859960;12874243;12975377;14574404;14592977;14633987;14670075;14702039;14743216;14960582;14982987;15075345;15082531;15125833;15276183;15277532;15489334;15590691;15670770;15764709;15782160;15917247;15917296;16000313;16115877;16153868;16186825;16251197;16260783;16280329;16289117;16293250;16301747;16446357;16498455;16517750;16527194;16543241;16543409;16603398;16835226;16893890;17047224;17079228;17081983;17114179;17158449;17173073;17189706;17197697;17202147;17276978;17277779;17325661;17348859;17363905;17363973;17379600;17384642;17449468;17559674;17608743;17620599;17626013;17709393;17828308;17947236;17947700;17948050;17965022;17982039;18021073;18037881;18079694;18206350;18286207;18299321;18316610;18326498;18332137;18345001;18456659;18570872;18591963;18617512;18625728;18758450;18762249;18838386;18949366;18950863;18976975;19026643;19047046;19074436;19112497;19197243;19232515;19284290;19410630;19419968;19521662;19531477;19556242;19578758;19584092;19675569;19687304;19760754;19820695;19843958;19955178;20038579;20061393;20164171;20190752;20194509;20200282;20306291;20379614;20448286;20462248;20538596;20585109;20677014;20682854;20837137;20932476;20936779;21048031;21098640;21139048;21159881;21220427;21233843;21331078;21498517;21512569;21512573;21572451;21575904;21606198;21700681;21743023;21817100;21841780;21866272;21873447;21890473;21896478;21900206;21903422;21906983;22057290;22069318;22081109;22084099;22167179;22256769;22341439;22341466;22384029;22467172;22490020;22576335;22590573;22643835;22649101;22797925;22802624;22835455;22843747;22851693;22924441;22939629;22941947;22972987;23000965;23077317;23087682;23221546;23229544;23244239;23264041;23272845;23322406;23370768;23472066;23514740;23534745;23575687;23606331;23705972;23760366;23776175;23934659;23962979;23973329;24061540;24072697;24084649;24113182;24270572;24277938;24434549;24529757;24686082;24721172;24816145;24911653;24947323;3031469;7708055;8533096;8638164;8663074;9079627;9162092;9278437;9380693;9466656;9480845;9556573;9689078;9742107;9744859;9878061 6885 O43318;Q9UG54 AB009356;AB009357;AB009358;ABBA01040553;ABBA01040554;AF218074;AI147171;AK055901;AK299268;AK315774;AL050393;AL121837;AL121964;AL520975;AMYH02014101;BC017715;BM172351;BT019654;BT019655;CH471051;DQ314875;NG_011966;NM_003188;NM_145331;NM_145332;NM_145333;XM_006715553 AAF27652;AAH17715;AAV38460;AAV38461;ABC40734;BAA25025;BAA25026;BAA25027;BAG38124;BAG61290;CAB43687;EAW48525;EAW48526;EAW48527;EAW48528;EAW48529;NP_003179;NP_663304;NP_663305;NP_663306;O43318;XP_006715616 Hs.594838 1663075;1668162;1669804;1785882;2137443;2147597;2156533;2171956;2179285;5093986 A010A09;D6S1420;G33039;RH16422;RH36246;SHGC-132368;SHGC-24062;SHGC-34216;STS-N93759;WI-19992 MEKK7;TAK1;TGF1a OTTHUMP00000016870;OTTHUMP00000016871;OTTHUMP00000016872;OTTHUMP00000016873;TGF-beta activated kinase 1;TGF-beta-activated kinase 1;transforming growth factor-beta-activated kinase 1 APPROVED protein-coding ENSG00000135341 HGNC:6859 04011 602614 REVIEWED 1602463 MAP6D1 MAP6 domain containing 1 This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that binds and stabilizes microtubules but also associates with the Golgi membranes through N-terminal palmitoylation. [provided by RefSeq, Oct 2008] 3 3 3 q27.1 181977044 181986772 - 183533664 183543393 - 183815876 183825605 - 6480464 12477932;14702039;15489334;16837464 79929 C9JPF8;H7BZQ6;Q9H9H5 AA890498;ABBA01058471;AC131160;AK022810;AMYH02008296;BC006434;BI669125;CH471052;NM_024871 AAH06434;BAB14254;EAW78313;EAW78314;NP_079147;Q9H9H5 Hs.478465 1338876;1784838;1784840;2122832;2136180;5114206 D3S1571;RH78134;SHGC-155660;SHGC-155661;SHGC-77592;STS-AA022862 FLJ12748;MAPO6D1;SL21 21 kDa STOP-like protein;MAP6 domain-containing protein 1;OTTHUMP00000210966;OTTHUMP00000210967;STOP-like protein 21 APPROVED protein-coding ENSG00000180834 HGNC:25753 07793 610593 REVIEWED 1606581 MAP6 microtubule-associated protein 6 This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.5 72605749 72687267 - 75297959 75379479 - 75586918 75668730 - 6480464;8554872 10516426;11279055;11347906;12231625;12477932;14567673;14692697;14702039;15604093;16624526;17210638;19165527;20379614;22904321;23831686;24357581;8700896;9501006 4135 Q96JE9 AB058781;ABBA01017462;ABBA01017463;AK054873;AK096511;AK123340;AMYH02025120;AP001922;BC041411;BC063860;BC139780;BC150254;NM_033063;NM_207577;XM_006718556 AAH63860;AAI39781;AAI50255;BAB47507;BAC85586;NP_149052;NP_997460;Q96JE9;XP_006718619 Hs.585540 1656109;1664152;1693684;1697760;1732295;1737181;1737659;2114881;5096542 D11S1839;D11S3043;D11S3266;RH102403;RH12090;RH44209;SHGC-58607;STS-H10425;WI-21082 FLJ41346;KIAA1878;MAP-6;MTAP6;N-STOP;STOP OTTHUMP00000229411;OTTHUMP00000229417;OTTHUMP00000229418;stable tubule-only polypeptide APPROVED protein-coding ENSG00000171533 HGNC:6868 15989 601783 REVIEWED 1313504 MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1 ENCODES a protein that exhibits ATP binding; MAP kinase kinase kinase kinase activity; protein serine/threonine kinase activity; INVOLVED IN cell proliferation; intracellular signal transduction; peptidyl-serine phosphorylation; PARTICIPATES IN mitogen activated protein kinase signaling pathway; ASSOCIATED WITH Ischemic Attack, Transient (ortholog); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; 5-aza-2'-deoxycytidine 19 19 19 q13.1-q13.4 35880315 35910669 - 39078281 39108643 - 38587640 38618035 - 1580863;6480464;6907045;7495847;7495845;8554872 18382279;18498770 10224067;10233887;10567356;10602493;11053428;11278340;11279207;11313918;11432831;11487585;11514608;12496419;12522005;14563325;15100220;15302935;15364934;15743830;16196087;16341093;16449643;17024227;17192257;17353368;17474147;17712048;17895239;19141650;19706536;19915061;19946888;20697350;21145461;21915030;21988832;22105350;22421156;22541691;22801218;22939624;22974441;23460610;24362026;8824585;9346925;9788432;9891069 11184 B4E087;K7EJS6;K7EKT6;K7ER95;K7ERT2;Q92918 AA995240;ABBA01040689;ABBA01040690;AC005933;AC008649;AK303267;AMYH02036075;AMYH02036076;AW137524;BX345201;CH471126;HY074876;NM_001042600;NM_007181;U66464;XM_006722993 AAB97983;AAI48360;AAI52995;BAG64349;EAW56799;EAW56800;EAW56801;EAW56802;NP_001036065;NP_009112;Q92918;XP_006723056 Hs.95424 1741701;2172994 GDB:182154;RH71249 HPK1 MAPK/ERK kinase kinase kinase 1;MEK kinase kinase 1;MEKKK 1;hematopoietic progenitor kinase 1 protein-coding ENSG00000104814 HGNC:6863 03583 601983 VALIDATED 1317839 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. [provided by RefSeq, Jul 2008] 11 11 11 q13 61882785 61896890 - 64556609 64570720 - 64789137 64803248 - 1580863;6480464;6484113;6907045 11784851;12477932;1570017;17192257;1740341;17584736;18029348;19913121;20332113;20628086;21044950;21768215;21900206;21906983;22433857;22505724;22939624;24072714;7477268;7515885;8643544;9253601;9712898 5871 C9JCU6;F2Z2B3;F8WCP4;H7C208;Q12851 ABBA01024145;AK298383;AK304495;AMYH02024942;AP001462;AW574847;BC039839;BC047865;BM458161;CH471076;NG_033040;NM_004579;U07349;XM_005274142;XM_005274143;XM_006718650;XM_006718651 AAA20968;AAH47865;BAG60619;BAG65303;EAW74299;EAW74300;EAW74301;EAW74302;NP_004570;Q12851;XP_005274199;XP_005274200;XP_006718713;XP_006718714 Hs.534341 1651599;1799180;1801804;1805088;1805918;1806048;1806498;1806854;1806922;1807334;1807410;1807482;1807526;1808486;1809372;1809750;1810308;1810742;1812706;1814532;1814748;1815850;1816606;1819694;1819768;1820456;1822212;1823488;1831144;1832506;1833726;1839194;1839572;1840134;1842956;1843010;1846072;1849430;1851193;1971152;1971154;1971156;1971158;1971160;1971162;1971164;1971166;1971168;1971170;1971172;1971174;1971176;1971178;1971180;1971182;1971184;1971186;1971188;1971190;1971192;1971194;1971196;1971198;1971200;1971202;1971204;1971206;1971208;1971210;1971212;1971214;1971216;1971218;1971220;1971222;1971224;1971226;1971228;1971230;1971232;1971234;1971236;1971238;1971240;1971242;1971244;1971246;1971248;1971250;1971252;1971254;1971256;1971258;1971260;1971262;1971264;1971266;1971268;1971270;1971272;1971274;1971276;1971278;1971280;1971282;1971284;1971286;1971290;1971292;1971294;1971300;1971302;1971306;1971308;1971310;1971312;1971314;1971316;1971318;1971322;1971324;1971326;1971328;1971330;1971332;1971334;1971344;1971346;1971348;1971350;1971352;1971356;1971358;1971360;1971362;1971364;1971366;1971368;1971370;1971372;1971374;1971376;1971378;1971380;1971382;1971384;1971386;1971388;1971390;1971392;1971394;1971396;1971400;1971402;1971404;1971406;1971408;1971410;1971412;1971414;1971416;1971418;1971420;1971422;1971424;1971428;1971430;1971432;1971434;1971436;1971438;1971440;1971442;1971444;1971446;1971448;1971450;1971454;1971456;1971458;1971460;1971462;1971464;1971466;1971468;1971470;1971474;1971476;1971478;1971480;1971482;1971484;1971488;1971490;1971492;1971494;1971496;1971500;1971502;1971504;1971506;1971508;1971510;1971512;1971514;1971516;1971518;1971520;1971522;1971524;1971526;1971528;1971530;1971532;1971534;1971536;1971538;1971540;1971542;1971544;1971546;2110513;2115997;2133818;2153390;2214914;2214916;2214918;2214920;2214922;2214924;2214926;2214928;2214930;2214932;2214934;2214936;2214938;2214940;2214942;2214944;2214946;2214948;2214950;2214952;2214954;2214956;2214958;2214960;2214962;2214964;2214966;2214968;2214970;2214972;2214974;2214976;2214978;2214980;2214982;2214984;5119454 A007D15;D11S1080;D11S4946;D20S991;ECD00438;ECD01783;ECD03486;ECD03912;ECD03977;ECD04206;ECD04392;ECD04426;ECD04638;ECD04676;ECD04713;ECD04735;ECD05225;ECD05678;ECD05867;ECD06146;ECD06366;ECD07364;ECD08296;ECD08405;ECD08965;ECD09345;ECD10914;ECD10954;ECD11303;ECD12192;ECD12835;ECD16708;ECD17392;ECD18008;ECD20777;ECD20969;ECD21251;ECD22686;ECD22713;ECD24256;MAP4K2_2786;REN56459;REN56460;REN56461;REN56462;REN56463;REN56464;REN56465;REN56466;REN56467;REN56468;REN56469;REN56470;REN56471;REN56472;REN56473;REN56474;REN56475;REN56476;REN56477;REN56478;REN56479;REN56480;REN56481;REN56482;REN56483;REN56484;REN56485;REN56486;REN56487;REN56488;REN56489;REN56490;REN56491;REN56492;REN56493;REN56494;REN56495;REN56496;REN56497;REN56498;REN56499;REN56500;REN56501;REN56502;REN56503;REN56504;REN56505;REN56506;REN56507;REN56508;REN56509;REN56510;REN56511;REN56512;REN56513;REN56514;REN56515;REN56516;REN56517;REN56518;REN56519;REN56520;REN56521;REN56522;REN56523;REN56524;REN56525;REN56526;REN56528;REN56529;REN56530;REN56533;REN56534;REN56536;REN56537;REN56538;REN56539;REN56540;REN56541;REN56542;REN56544;REN56545;REN56546;REN56547;REN56548;REN56549;REN56550;REN56555;REN56556;REN56557;REN56558;REN56559;REN56561;REN56562;REN56563;REN56564;REN56565;REN56566;REN56567;REN56568;REN56569;REN56570;REN56571;REN56572;REN56573;REN56574;REN56575;REN56576;REN56577;REN56578;REN56579;REN56580;REN56581;REN56583;REN56584;REN56585;REN56586;REN56587;REN56588;REN56590;REN56591;REN56592;REN56593;REN56594;REN56595;REN56596;REN56598;REN56599;REN56600;REN56601;REN56602;REN56603;REN56604;REN56605;REN56606;REN56607;REN56608;REN56609;REN56611;REN56612;REN56613;REN56614;REN56615;REN56616;REN56617;REN56618;REN56619;REN56621;REN56622;REN56623;REN56624;REN56625;REN56626;REN56628;REN56629;REN56630;REN56631;REN56632;REN56634;REN56635;REN56636;REN56637;REN56638;REN56639;REN56640;REN56641;REN56642;REN56643;REN56644;REN56645;REN56646;REN56647;REN56648;REN56649;REN56650;REN56651;REN56652;REN56653;REN56654;REN56655;REN56656;REN56657;RH68087;STS-U07349;WI-18813;stSG635687;stSG635688;stSG635689;stSG635690;stSG635691;stSG635692;stSG635693;stSG635694;stSG635695;stSG635696;stSG635697;stSG635698;stSG635700;stSG635701;stSG635702;stSG635703;stSG635704;stSG635705;stSG635708;stSG635709;stSG635710;stSG635711;stSG635713;stSG635714;stSG635715;stSG635716;stSG635717;stSG635719;stSG635720;stSG635721;stSG635722;stSG635723;stSG635724;stSG635725;stSG635726;stSG635728 BL44;GCK;RAB8IP B lymphocyte serine/threonine protein kinase;GC kinase;MAPK/ERK kinase kinase kinase 2;MEK kinase kinase 2;MEKKK 2;OTTHUMP00000042793;OTTHUMP00000069727;Rab8 interacting protein;b lymphocyte serine/threonine-protein kinase;germinal center kinase;germinal centre kinase (GC kinase);rab8-interacting protein APPROVED protein-coding ENSG00000168067 HGNC:6864 04408 603166 REVIEWED 1603999 MAP7D1 MAP7 domain containing 1 INVOLVED IN microtubule cytoskeleton organization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; microtubule cytoskeleton; INTERACTS WITH (+)-catechin; aflatoxin B1; benzo[a]pyrene diol epoxide I 1 1 1 p34.3 34896283 34920916 + 36621751 36646450 + 36155965 36180849 + 6480464;8554872 10574461;12477932;14702039;16169070;16713569;17370265;19615732;20360068;21139048;21890473;22261722;22505724;24163370;24816145;8619474;9110174;9921901 55700 B3KU03;C9JIR3;D3DPS3;E9PLH3;H0YF21;Q3KQU3 AB033013;ABBA01023312;AC114484;AF064852;AF218002;AK001212;AK095939;AK096341;AK309966;AL136547;AMYH02000778;AY007099;BC003083;BC015885;BC027334;BC057293;BC067256;BC082266;BC106053;BC111428;BC128042;CH471059;CR457254;NM_001286365;NM_001286366;NM_018067;XM_005271024;XM_005271025;XM_005271027;XM_006710759;XM_006710760;XM_006710761 AAG17244;AAH27334;AAH67256;AAI06054;AAI28043;BAA86501;BAA91557;BAC04654;BAG53265;CAB66482;CAG33535;EAX07381;EAX07382;EAX07383;EAX07384;NP_001273294;NP_001273295;NP_060537;Q3KQU3;XP_005271081;XP_005271082;XP_005271084;XP_006710822;XP_006710823;XP_006710824 Hs.356096 1668284;1673387;2184002;2191405;7186807 D11S4371;D11S952E;MARC_21357-21358:1023909441:1;SHGC-31916 FLJ10350;FLJ39022;MGC117315;PARCC1;RPRC1 MAP7 domain-containing protein 1;OTTHUMP00000009182;OTTHUMP00000009183;OTTHUMP00000228575;arginine/proline rich coiled-coil 1;arginine/proline-rich coiled-coil domain-containing protein 1;proline arginine rich coiled coil 1;proline/arginine-rich coiled-coil domain-containing protein 1 protein-coding ENSG00000116871 HGNC:25514 07666 VALIDATED 1605254 MAP7D2 MAP7 domain containing 2 INVOLVED IN microtubule cytoskeleton organization (inferred); FOUND IN microtubule (inferred); INTERACTS WITH (-)-demecolcine; calcitriol; formaldehyde X X X p22.12 24148899 24259048 - 20024831 20135114 - 20006713 20116996 - 6480464 12477932;14702039;15772651;16344560;16959974;19413330;21890473;21906983;24250222 256714 B7Z895;Q96T17 ABBA01071830;ABBA01071831;ABBA01071832;ABBA01071833;ABBA01071834;ABBA01071835;ABBA01071836;ABBA01071837;ABBA01071838;ABBA01071839;ABBA01071840;ABBA01071841;ABBA01071842;ABBA01071843;ABBA01071844;ABBA01071845;AK027409;AK098768;AK127056;AK294788;AK296319;AK303019;AK316117;AL732366;AMYH02038980;AMYH02038981;AMYH02038982;AMYH02038983;AW138738;BC037165;BC052256;BC089400;BC136379;CH471074;DA409284;DC342615;JQ319659;JQ319660;NG_016371;NM_001168465;NM_001168466;NM_001168467;NM_152780;R45976;XM_005274478;XM_005274479;XM_005274480;XM_006724481;XM_006724482 AAH37165;AAH89400;AAI36380;AFG73613;AFG73614;BAB55093;BAC05407;BAG54432;BAH11884;BAH12313;BAH13881;BAH14488;EAW98971;NP_001161937;NP_001161938;NP_001161939;NP_689993;Q96T17;XP_005274535;XP_005274536;XP_005274537;XP_006724544;XP_006724545 Hs.127951 1673213;1691006;1702006;1702086;1732685;1791191;1791211;2139757;2164100 188G3_T7;382L18_T7;A004N33;D17S1162;DXS1525;DXS6730;RH11293;RH44291;sWXD1124 FLJ14503;MGC104944;RP11-393H10.2 MAP7 domain containing 2 protein varaint 1;MAP7 domain containing 2 protein varaint 2;MAP7 domain-containing protein 2;OTTHUMP00000023029;OTTHUMP00000023030;OTTHUMP00000245297;OTTHUMP00000245298 protein-coding ENSG00000184368 HGNC:25899 06525 VALIDATED 732595 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 2 2 2 p22.1 39317367 39505201 - 39476407 39664453 - 39249266 39437312 - 1580863;6480464;6484113;6907045;8554872 11384986;12127567;12477932;14702039;16344560;17474147;19587239;19806019;19913121;20200978;20227368;20379614;20628086;20936779;21706016;21983831;22867055;22898570;23981581;24250222;9275185;9847074 8491 A8K602;B3KMM5;B4DSS3;F5H5A3;F8WAZ1;F8WBC3;H7C1A4;Q8IVH8;V9GY95 ABBA01075030;ABBA01075031;ABBA01075032;AC007684;AC079615;AF445413;AK021553;AK291467;AK299889;AK314487;AK316144;AMYH02003640;AMYH02003641;AMYH02003642;AMYH02003643;BC060880;BC071579;CH471053;DA409370;NG_028007;NM_001270425;NM_003618 AAF19240;AAH71579;AAN75849;AAN75850;AAY14734;ACE87796;ACT64392;BAF84156;BAG51037;BAG61735;BAH14515;EAX00346;EAX00347;NP_001257354;NP_003609;Q8IVH8 Hs.655750 1647005;1671334;1673626;1727797;1778408;1796290;2115991 1386;D2S1852;G09793;G63164;MAP4K3_361;SHGC-54631;SHGC-64118 GLK;MAPKKKK3;MEKKK 3;MEKKK3;RAB8IPL1 MAPK/ERK kinase kinase kinase 3;MEK kinase kinase 3;OTTHUMP00000128322;OTTHUMP00000204178;OTTHUMP00000204180;germinal center kinase-like kinase;germinal center kinase-related protein kinase APPROVED protein-coding ENSG00000011566 HGNC:6865 05373 604921 REVIEWED 1605620 MAP9 microtubule-associated protein 9 ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008] 4 4 4 q32.1 153594215 153629626 - 156263810 156298122 - 155342658 155376970 - 6480464 12477932;14702039;15090612;15815621;16049101;17925329;18029348;20379614;20615875;22672907;23443559;8889548 79884 A2VCS9;A8MSM7;C9JXH8;E7ETZ8;H0Y945;Q05CN5;Q49MG5 ABBA01070166;ABBA01070167;AC097467;AK024730;AK024812;AK301075;AMYH02010340;AY690636;BC022852;BC056683;BC128540;BC128541;BC146864;CF144347;CH471056;CR749274;NM_001039580;XM_006714306;XM_006714307;XM_006714308 AAH22852;AAH56683;AAI28541;AAI28542;AAI46865;AAW02921;AAY40981;BAB14978;BAB15017;BAG62681;CAH18129;EAX04898;EAX04899;EAX04900;NP_001034669;Q49MG5;XP_006714369;XP_006714370;XP_006714371 Hs.61271 1662821;1678157;1684800;1687237;1690706;2148969;2167963 D4S1062;G34102;RH45691;RH92472;RH98645;RH98945;RH99321 ASAP;FLJ21159 OTTHUMP00000196619;OTTHUMP00000196622;OTTHUMP00000220311;aster-associated protein APPROVED protein-coding ENSG00000164114 HGNC:26118 07957 610070 VALIDATED 1318886 MAP7 microtubule-associated protein 7 The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 6 6 6 q23.3 137404328 137612277 - 136663419 136871957 - 136342281 136551009 - 1580863;6480464;8554872 11719555;12477932;12755995;12845596;14517216;14574404;15218243;15489334;16344560;16565220;16712791;16964243;17081983;18029348;18695889;19531213;19913121;20628086;21044950;22863883;24778252;24816145;7490279;8408219;9989799 9053 B7Z3E1;B7Z3Y3;B7ZB64;Q14244 AB073649;ABBA01025826;ABBA01025827;ABBA01025828;AI344295;AJ242501;AJ242502;AJ420541;AK294461;AK295749;AK296483;AK296556;AK299355;AK307873;AK311114;AK311227;AK311234;AK311236;AK311270;AK312789;AK316062;AK316529;AL023284;AL024508;AL042021;AL133511;AMYH02014554;AMYH02014555;AMYH02014556;AMYH02014557;AMYH02014558;BC025777;BF792432;CB162980;CD557798;CH471051;DA329576;DA341792;DC325462;DC332469;NM_001198608;NM_001198609;NM_001198611;NM_001198614;NM_001198615;NM_001198616;NM_001198617;NM_001198618;NM_001198619;NM_003980;X73882;XM_005267209;XM_006715598;XM_006715599;XM_006715600;XM_006715601 AAH25777;ABM81872;ABM87811;BAG35651;BAH11776;BAH12177;BAH12369;BAH12386;BAH13013;BAH14433;BAH14900;CAA52086;CAB88030;CAB88031;EAW47944;EAW47945;EAW47946;EAW47947;NP_001185537;NP_001185538;NP_001185540;NP_001185543;NP_001185544;NP_001185545;NP_001185546;NP_001185547;NP_001185548;NP_003971;Q14244;XP_005267266;XP_006715661;XP_006715662;XP_006715663;XP_006715664 Hs.486548 1650932;1659952;1670453;1673763;1696738;1711066;1719663;1754599;1775638;1796292;2119648;2129622;2135254;2166511;2174507;2174509;2177836;7187607 1736;AL020982;D6S1258;D6S1494;D6S1849;D6S1865;D6S323E;MAP7_917;RH123523;RH46709;RH63710;SHGC-132897;SHGC-77904;SHGC-86169;STS-M61959;STS-X73882;WI-20359 E-MAP-115;EMAP115;MAP-7 OTTHUMP00000017274;dJ325F22.2 (microtubule-associated protein 7 (EMAP115, E-MAP-115));ensconsin;epithelial microtubule-associated protein of 115 kDa APPROVED protein-coding ENSG00000135525 HGNC:6869 04982 604108 REVIEWED 1606231 MAP7D3 MAP7 domain containing 3 The protein encoded by this gene belongs to the MAP7 (microtubule-associated protein 7) family. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Mar 2010] X X X q26.3 135658025 135701290 - 135295379 135338641 - 136213220 136256482 - 6480464;8554872 12477932;14702039;18029348;19531213;19946888;20562864;21139048;21890473;21906983;22142902;23383273;23443559;24927501 79649 Q8IWC1 ABBA01055873;ABBA01055874;ABBA01055875;ABBA01055876;ABBA01055877;ABBA01055878;AK022711;AK301478;AL078638;AL832120;AL832475;AMYH02040573;AMYH02040574;AMYH02040575;AMYH02040576;AMYH02040577;AW139720;AW206053;BC040518;BC064350;CH471150;DB454674;NG_016801;NM_001173516;NM_001173517;NM_024597;XM_005262472 AAH40518;AAH64350;BAB14195;BAG62994;EAW88475;NP_001166987;NP_001166988;NP_078873;Q8IWC1;XP_005262529 Hs.446275 1691572;2135698;5015861;5022578;7185938 AL032562;D10S16;D1S1423;STS-W44435 FLJ12401;FLJ12649;MDP3;RP11-535K18.3 MAP7 domain-containing protein 3;OTTHUMP00000024119;OTTHUMP00000024120;OTTHUMP00000195153 APPROVED protein-coding ENSG00000129680 HGNC:25742 300930 REVIEWED 1313282 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 2 q11.2-q12 96515852 96712368 + 102314165 102511152 + 101697703 101894690 + 1580863;6480464;6484113;6907045;8554872 10669731;10805734;10807933;11369779;11967148;12185077;12387898;12477932;12612079;14578343;14702039;14966141;15302935;15951441;16344560;16537454;17192257;17227768;18981001;19615732;19690174;20857524;20936779;21139048;21196414;21382349;21890473;21906983;21988832;22321011;22505724;22824148;22939624;22952844;22990118;23000965;23094072;23453885;23543740;24233838;24244164;24255178;24816145;9135144;9734811;9890973 9448 B7Z3V5;C9J840;E7EN19;E7ENQ1;E7ESS2;E7ETN6;E7EX83;G3XAA2;G5E948;H7C0P6;H7C360;H7C3Z6;O95819;V9HWH3 AB013385;AB014587;ABBA01073902;ABBA01073903;ABBA01073904;ABBA01073905;ABBA01073906;ABBA01073907;AC005035;AC007005;AF096300;AK000380;AK001272;AK025610;AK074592;AK074900;AK130085;AK295610;AK296396;AK307879;AL137755;AMYH02004428;AMYH02004429;AMYH02004430;AMYH02004431;AMYH02004432;AMYH02004433;AMYH02004434;AY212247;AY834276;BC010909;BC040077;BC045694;BC051791;BC054038;BC064691;BC065036;BU595561;BU625485;CH471127;DB086475;DR002278;EU794634;NM_001242559;NM_001242560;NM_004834;NM_145686;NM_145687;XM_005264044;XM_005264045;XM_005264046;XM_005264047;XM_005264048;XM_005264049;XM_005264050;XM_005264052;XM_005264053;XM_005264054;XM_005264055;XM_005264056;XM_005264057;XM_005264058;XM_005264059;XM_005264060;XM_005264061;XM_005264062;XM_005264063;XM_005264064;XM_005264065;XM_005264066;XM_005264068;XM_005264069;XM_005264071;XM_006712864;XM_006712865;XM_006712866;XM_006712867;XM_006712868;XM_006712869 AAD16137;AAI56090;AAI56888;AAO32626;AAV97884;AAY14969;AAY14970;AAY24319;ACJ13688;BAA31662;BAA33714;BAA91127;BAH12124;BAH12341;CAB70907;EAX01805;EAX01806;EAX01807;EAX01808;EAX01809;EAX01810;NP_001229488;NP_001229489;NP_004825;NP_663719;NP_663720;O95819;XP_005264101;XP_005264102;XP_005264103;XP_005264104;XP_005264105;XP_005264106;XP_005264107;XP_005264109;XP_005264110;XP_005264111;XP_005264112;XP_005264113;XP_005264114;XP_005264115;XP_005264116;XP_005264117;XP_005264118;XP_005264119;XP_005264120;XP_005264121;XP_005264122;XP_005264123;XP_005264125;XP_005264126;XP_005264128;XP_006712927;XP_006712928;XP_006712929;XP_006712930;XP_006712931;XP_006712932 Hs.701013 1334924;1646204;1661249;1676934;1683347;1684968;1713547;1769493;1797844;1849262;2111368;2117769;2119734;2152554;2191615;5015861;5114252;5120902;7183867;7185938 A002T17;Cda0gg02;D10S16;D2S1511E;D2S1670E;D2S2264;MAP4K4_2040;MARC_27547-27548:1035300711:1;NIB1426;RH120260;RH47983;RH68076;RH68579;RH69786;RH91166;SHGC-34865;STS-F04654;WI-18219 FLH21957;FLJ10410;FLJ20373;FLJ90111;HEL-S-31;HGK;KIAA0687;MEKKK4;NIK HPK/GCK-like kinase HGK;MAPK/ERK kinase kinase kinase 4;MEK kinase kinase 4;MEKKK 4;OTTHUMP00000207902;OTTHUMP00000207903;OTTHUMP00000207971;OTTHUMP00000207972;OTTHUMP00000207973;OTTHUMP00000207974;Ste20 group protein kinase HGK;epididymis secretory protein Li 31;hepatocyte progenitor kinase-like/germinal center kinase-like kinase;nck-interacting kinase APPROVED protein-coding ENSG00000071054 HGNC:6866 05235 604666 REVIEWED 731716 MAPK12 mitogen-activated protein kinase 12 Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34566234 34574992 - 50691331 50700248 - 50252902 50261660 - 1580863;1300048;2293891;6480464;6907045 17481747 10212242;10508788;10567720;10591208;10848581;11062067;11062068;11104762;11181841;11520933;11741894;11991731;12167088;12171600;12226093;12239168;12387894;12429732;12477932;12536241;12761180;12915405;1330687;14592936;14702039;15123239;15158451;15284239;15342622;15461802;15489334;15850461;15923648;16637659;17081983;17088247;17724032;17906618;18221368;18559936;19251701;19294699;19913121;19953087;20332238;20605917;20628086;20804750;21044950;21172807;21532888;21862636;21878638;21988832;22399296;22522454;22730326;22730327;22939629;23602568;24250222;7566346;8633070;8920915;9019171;9169156;9199504;9297626;9353289;9564043;9565682;9628874;9735171;9771888;9832145 6300 A8MY48;B5MDL5;B7Z274;P53778 ABBA01011380;AK098058;AK123665;AK289770;AK294422;AK307421;AK307724;AK308768;AL022328;AMYH02038602;BC015741;BX640648;CH471138;CR456515;NM_002969;U66243;X79483;XM_003846644;XM_005275911;Y10487 AAB40118;AAH15741;ABM83713;ABM87033;BAF82459;BAG53571;BAG53932;BAH11760;CAA55984;CAA71511;CAE45794;CAG30401;CAK54546;CAK54845;EAW73521;EAW73522;NP_002960;P53778;XP_003846692;XP_005275968 Hs.432642 1677802;1789342;1789344;1789346;1789348;2108235;5015619;5022200;5037552 D11S3114;D8S2279;G67863;G67870;G67895;G67897;L18426;MAPK11_7859;RH65991 ERK-6;ERK3;ERK6;MAPK 12;P38GAMMA;PRKM12;SAPK-3;SAPK3 MAP kinase 12;MAP kinase p38 gamma;OTTHUMP00000028548;OTTHUMP00000196671;extracellular signal-regulated kinase 6;mitogen-activated protein kinase 3;mitogen-activated protein kinase p38 gamma;stress-activated protein kinase 3 APPROVED protein-coding ENSG00000188130 HGNC:6874 03868 602399 REVIEWED 1604966 MAPK15 mitogen-activated protein kinase 15 ENCODES a protein that exhibits MAP kinase activity; INVOLVED IN MAPK cascade; protein autophosphorylation; ASSOCIATED WITH Breast Neoplasms; FOUND IN nucleus (inferred); INTERACTS WITH atrazine; 1,3-dinitrobenzene (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 8 8 8 141109455 141115595 + 144798507 144804633 + 143716337 143722463 + 2304230;6480464 12917323 11875070;12239168;12477932;15342556;15489334;16336213;16484222;16624805;18029348;19166846;20395206;20733054;21190936;22939624;22948227;23251661;23326322;23455922;23602568;9880541 225689 Q8TD08 ABBA01005242;ABBA01005243;AC105219;AMYH02018947;AY065978;AY994058;BC028034;BP357805;CH471162;NM_139021;XM_006716528;XM_006716529;XM_006725077;XM_006725078 AAH28034;AAL40897;AAY44299;ABM82399;ABM85587;EAW82203;EAW82204;EAW82205;NP_620590;Q8TD08;XP_006716591;XP_006716592;XP_006725140;XP_006725141 Hs.493169 ERK-7;ERK-8;ERK7;ERK8;MAPK 15 MAP kinase 15;OTTHUMP00000189334;extracellular regulated kinase 8 delta;extracellular signal regulated kinase 8;extracellular signal-regulated kinase 7;extracellular signal-regulated kinase 8 protein-coding ENSG00000181085 HGNC:24667 16867 VALIDATED 1319634 MAPK11 mitogen-activated protein kinase 11 This gene encodes a member of a family of protein kinases that are involved in the integration of biochemical signals for a wide variety of cellular processes, including cell proliferation, differentiation, transcriptional regulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses through phosphorylation by mitogen activated protein kinase kinases (MKKs). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 22 22 22 q13.33 34577045 34583684 - 50702142 50708779 - 50263713 50270350 - 1580863;2293891;6480464;6484113;6907045 17481747 10201954;10207622;10330143;10362531;10391889;10591208;10608813;10744763;10782990;10811012;10820433;10878576;10952989;11154262;11162833;11211234;11359773;11448946;11495898;11551945;11579095;11847341;12171600;12239168;12384504;12454855;12475989;12477932;12510156;12586546;12761180;14522966;14557269;14651992;14680475;14688370;14724572;15048855;15249224;15273249;15304097;15304344;15326477;15356147;15461802;15489334;15708845;15728454;15923648;16120828;16341674;16643845;16966330;17241234;17254968;17380123;17906618;18192325;18950637;19082897;19622861;19706373;19913121;20053787;20056178;20110267;20162623;20188673;20378550;20626350;20628086;20724307;21757713;21832049;21900206;21911485;21988832;22157753;22515544;22522454;23435415;23602568;23625915;23824909;8663524;9029150;9199504;9207191;9218798;9235954;9430721;9628874;9632706;9687510;9832563 5600 F8WDP4;Q15759 ABBA01011381;ABBA01011382;AF001008;AF001174;AF031135;AK291845;AK299745;AK308969;AK309046;AL022328;AMYH02038602;BC027933;BM857051;BX361670;BX444192;CH471138;CR456514;DQ279722;EU332851;JX512451;NG_034042;NM_002751;NR_110887;U53442;U92268;Y14440 AAB05036;AAB66313;AAC12714;AAC51250;AAC51373;AAH27933;ABB72677;ABM82654;ABM85831;ABY87540;AGC09598;BAF84534;BAH13116;CAA74792;CAG30400;CAK54545;CAK54844;EAW73524;EAW73525;EAW73526;NP_002742;Q15759 Hs.57732 1789350;1789356;2108235 G67869;G67896;MAPK11_7859 P38B;P38BETA2;PRKM11;SAPK2;SAPK2B;p38-2;p38Beta MAP kinase 11;MAP kinase p38 beta;MAPK 11;OTTHUMP00000196653;OTTHUMP00000196655;mitogen-activated protein kinase p38 beta;mitogen-activated protein kinase p38-2;stress-activated protein kinase 2;stress-activated protein kinase 2b;stress-activated protein kinase-2;stress-activated protein kinase-2b APPROVED protein-coding ENSG00000185386 HGNC:6873 04208 602898 REVIEWED 737240 MAPK13 mitogen-activated protein kinase 13 This gene encodes a member of the mitogen-activated protein (MAP) kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 6 p21.31 37652800 37662381 + 36098261 36112301 + 36130484 36144524 + 1580863;1300048;2293891;6480464;6907045;8554872 17481747 10066767;10201954;10727080;11378392;11500363;11520933;12080077;12171600;12239168;12244047;12477932;12482858;12810719;14574404;15231748;15340077;15489334;15850461;16344560;16644870;16751776;17906618;18367666;18559936;18624398;19135240;19279008;19816939;19913121;20056178;20090411;20478268;20628086;20804750;20805296;21832049;21906983;21988832;22199349;22730327;23187130;23383273;23590314;23602568;23722928;23798682;23878395;24447338;24599959;8125298;9199504;9207191;9218798;9295308;9297626;9374491;9628874;9731215;9841871 5603 O15264;Q5R3E6 AB209586;AB451221;AB451344;ABBA01038252;AF004709;AF015256;AF092535;AF100546;AK222922;AK308018;AMYH02013551;BC000433;BC001641;BC004428;BC085196;BM921729;BT007221;CH471081;CR536490;CR541687;DB335275;DB473379;DQ588728;DR006449;NM_002754;NR_072996;U93232;Y10488;Z95152 AAB87639;AAC51374;AAC51758;AAD23377;AAF36772;AAH00433;AAH01641;AAH04428;AAH85196;AAP35885;ABM82298;ABM85477;ACE86820;ACE87506;BAD92823;BAD96642;BAG70035;BAG70158;CAA71512;CAG38729;CAG46488;EAX03874;EAX03875;EAX03876;NP_002745;O15264 Hs.178695 1674380;1774699;1788598;1796296 MAPK13_919;MARC2561-2562;RH46763;WI-17354 MAPK 13;MAPK-13;MGC99536;PRKM13;SAPK4;p38delta MAP kinase 13;MAP kinase p38 delta;OTTHUMP00000016282;OTTHUMP00000016283;mitogen activated protein kinase 13;mitogen-activated protein kinase p38 delta;stress-activated protein kinase 4 APPROVED protein-coding HGNC:6875 09113 602899 REVIEWED 736964 MAPK4 mitogen-activated protein kinase 4 Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 18 18 18 q21.1 44943273 45114970 + 48086484 48258196 + 50560114 50731826 + 1580863;6480464;8554872 12008033;12239168;12477932;1319925;16360641;16973613;18720373;19473979;21177870;21675959;21988832;22046431;22800433;22939624;23602568;24020373;24651460;7601337;7969157;8290275;8607977;9069255 5596 B4DEW2;K7ELV1;K7EN18;P31152 AA771957;ABBA01018672;ABBA01018673;ABBA01018674;AC012433;AC090395;AC090638;AI088913;AK293818;AK295058;AK303601;AMYH02034703;BC040493;BC050299;BC117216;BC143769;CH471096;NM_001292039;NM_001292040;NM_002747;X59727;XM_005258299 AAH50299;AAI17217;ADR83381;BAG57223;BAG58107;BAG64616;CAA42411;EAW62976;EAW62977;NP_001278968;NP_001278969;NP_002738;P31152;XP_005258356 Hs.433728 1649359;1679626;1686492;1694560;1707836;1719683;1721615;1751535;1767068;2124817;2135694;2171478 D18S962;G43235;G59817;RH123531;RH80094;RH80975;SHGC-105304;SHGC-30831;SHGC-82149;STS-R37298;STS-T28761;STS-X59727 ERK-4;ERK3;Erk4;MAPK 4;PRKM4;p63-MAPK;p63MAPK Erk3-related;MAP kinase 4;MAP kinase isoform p63;extracellular signal-regulated kinase 4;mitogen activated protein kinase 4 APPROVED protein-coding ENSG00000141639 HGNC:6878 01497 176949 REVIEWED 733646 MAPK6 mitogen-activated protein kinase 6 The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008] 15 15 15 q21 29205905 29252893 + 52296377 52358462 + 52004265 52066265 + 1580863;6480464;8554872 11148204;11741894;12239168;12477932;12808096;12915405;15172640;15226418;15489334;16344560;16360641;16964379;18235225;18720373;19322201;2032290;20936779;21139048;21317288;21890473;21900206;21906983;21988832;22190034;22261722;22505454;22645313;23443559;23602568;24585635;7969157;8621539;8626698;8875998 5597 Q16659 AB451301;ABBA01039069;AC023906;AC090970;AF420474;AK313633;AMYH02030443;BC035492;CH471082;CR749401;DA109756;KC877556;L77964;NM_002748;X80692;XM_005254536;XM_005254537;XM_005254538;XM_005254539 AAA98769;AAH35492;AAL17605;ABM82544;ABM85736;BAG36392;BAG70115;CAA56709;CAH18246;EAW77434;NP_002739;Q16659;XP_005254593;XP_005254594;XP_005254595;XP_005254596 Hs.411847 1694630;2217592;5014719;5096042;5113126;5124915 FB21D1;G19713;G43355;MAPK6_180.2;RH39451;RH66852 DKFZp686F03189;ERK-3;ERK3;HsT17250;MAPK 6;PRKM6;p97-MAPK;p97MAPK MAP kinase 6;MAP kinase isoform p97;OTTHUMP00000162717;extracellular signal-regulated kinase 3;extracellular signal-regulated kinase, p97;protein kinase, mitogen-activated 5;protein kinase, mitogen-activated 6 APPROVED protein-coding HGNC:6879 04213 602904 REVIEWED 1322925 MAPK1IP1L mitogen-activated protein kinase 1 interacting protein 1-like INTERACTS WITH all-trans-retinoic acid; hydrogen peroxide; paracetamol 14 14 14 q22.3 35567856 35586404 + 55518362 55536912 + 55051644 55070194 + 6480464 12011110;12477932;12508121;14702039;15489334;16189514;17081983;17207965;19060904;21139048;21988832;8619474 93487 Q8NDC0 ABBA01018201;AK025580;AK054650;AK315501;AL139316;AL834285;AMYH02029231;AMYH02029232;BC015621;CH471061;NM_144578;U90909 AAH15621;ADQ33151;BAG37885;CAD38959;EAW80656;EAW80657;NP_653179;Q8NDC0 Hs.594338 1643998;1666162;1673691;1688104;1688552;1698696;1782006;1787854;2123072;2135711;2149677;2166179;2171496;2176386;2176448;2179603;2183354;5014051;5016478;5018951;5037552;5093994 A006P30;A010A14;D14S1293;D8S2278;D8S2279;G33044;G35628;G42230;GDB:434012;RH102908;RH41012;RH44362;RH48168;RH68520;RH79653;SGC34709;SHGC-132642;SHGC-147156;SHGC-31047;SHGC-36814;SHGC-36859;WI-15641 C14orf32;MGC23138;MISS;c14_5346 MAPK-interacting and spindle-stabilizing protein;MAPK-interacting and spindle-stabilizing protein-like;OTTHUMP00000244925;mitogen activated protein kinase 1 interacting protein 1-like;mitogen-activated protein kinase 1-interacting protein 1-like protein-coding ENSG00000168175 HGNC:19840 12647 VALIDATED 1345876 MAPK6PS1 mitogen-activated protein kinase 6 pseudogene 1 8 8 8 q11.23 50439635 50444884 + 54448877 54454126 + 53536317 53541566 + 12504858 317686 ABBA01041718;AC022034;AMYH02017988;NG_002454 Erk3ps1 pseudo HGNC:18980 INFERRED 733441 MAPK10 mitogen-activated protein kinase 10 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This protein is a neuronal-specific form of c-Jun N-terminal kinases (JNKs). Through its phosphorylation and nuclear localization, this kinase plays regulatory roles in the signaling pathways during neuronal apoptosis. Beta-arrestin 2, a receptor-regulated MAP kinase scaffold protein, is found to interact with, and stimulate the phosphorylation of this kinase by MAP kinase kinase 4 (MKK4). Cyclin-dependent kianse 5 can phosphorylate, and inhibit the activity of this kinase, which may be important in preventing neuronal apoptosis. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 4 4 4 q22.1-q23 84225414 84570629 - 86933452 87374283 - 86012299 86453130 - 1580863;1300048;2298567;2298561;2293875;6480464;6484113;6907045;7240710;8554872 10051439;15680699;17306896 10383391;10471813;10523642;10629060;10715136;10756100;10878576;11090355;11185509;11231586;11259409;11322657;11356842;11359773;11468147;11504923;11698270;11718727;11823425;12089333;12167088;12189133;12239168;12436199;12477932;12714584;12775419;12788955;12818176;12857973;12960231;12963725;14702039;15246824;15276183;15299005;15489334;15603708;15693750;16007099;16169070;16249883;16344560;16481105;16611996;16737965;16824735;17670986;17680991;18408005;18624398;19001375;19204086;1922387;19294699;19527717;19782076;19879840;20056178;20525557;20936779;21041242;21166945;21321401;21832049;21988832;22001757;22047447;22505724;22523077;23142346;23329067;23602568;24412749;24483146;24767251;7826642;8125298;8619474;8654373;9045910;9110174;9349820;9393873;9403476;9739089;9847074 5602 A8MPV1;A8MWW6;D6R9C1;D6RAJ0;D6RAU3;D6RBH2;D6RC26;D6RCB1;D6RDG1;D6RFX8;D6RFZ7;D6RJF9;H0Y9H3;P53779;Q499Y8 ABBA01063498;ABBA01063499;ABBA01063500;AC096953;AC104059;AC104827;AC108054;AF052141;AK022161;AK057723;AK091104;AK124791;AK225974;AK294125;AK307129;AMYH02009652;AMYH02009653;AMYH02009654;AMYH02009655;AX027295;BC022492;BC035057;BC051731;BC065516;BI549234;CH471057;CS693282;CS693286;CS693290;DA192997;HG497056;NG_013325;NM_002753;NM_138980;NM_138981;NM_138982;U07620;U34819;U34820;XM_005263129;XM_005263130;XM_005263131;XM_005263135;XM_005263136;XM_005263138;XM_006714267;XM_006714268;XM_006714269;XM_006714270;XM_006714271;XM_006714272 AAC50101;AAC50604;AAC50605;AAH35057;AAH51731;AAH65516;BAG51956;BAG52284;BAG54096;BAH11677;CAC09126;CAP12256;CAP12257;CAP12259;EAX05962;EAX05963;NP_002744;NP_620446;NP_620447;NP_620448;P53779;XP_005263186;XP_005263187;XP_005263188;XP_005263192;XP_005263193;XP_005263195;XP_006714330;XP_006714331;XP_006714332;XP_006714333;XP_006714334;XP_006714335 Hs.125503;Hs.13438 1652280;1660606;1665641;1666409;1696794;1697348;1708710;1720373;1740007;1747893;1775187;1779165;1785806;1796294;2107789;2111372;2129767;2149201;2151787;2156748;2171057;2174193;2185630;5014051;5022200;5037552 AFMa059xc9;D4S1019;D4S1055;D4S1153;D4S2469E;D4S2785;D4S2898;D4S3161;D8S2278;D8S2279;G01820;G10714;G34449;G66840;L18426;MAPK10_182;MARC_31431-31432:1049827311:1;RH102171;RH123938;SHGC-24232;SHGC-50852;SHGC-59777;SHGC-7527;SHGC-79840;SHGC-81500;SHGC4-1855 FLJ12099;FLJ33785;JNK3;JNK3A;MGC50974;PRKM10;RP13-514E23.1;SAPK1b;p493F12;p54bSAPK JNK3 alpha protein kinase;MAP kinase 10;MAP kinase p49 3F12;MAPK 10;OTTHUMP00000161179;OTTHUMP00000161180;OTTHUMP00000161181;OTTHUMP00000161182;OTTHUMP00000161183;OTTHUMP00000218566;OTTHUMP00000218717;OTTHUMP00000218718;c-Jun N-terminal kinase 3;mitogen activated protein kinase 10;stress activated protein kinase beta;stress-activated protein kinase 1b;stress-activated protein kinase JNK3 APPROVED protein-coding ENSG00000109339 HGNC:6872 04207 602897 REVIEWED 1342650 MAPK6PS2 mitogen-activated protein kinase 6 pseudogene 2 21 21 21 q21.1 8989753 8993784 - 23807356 23811387 - 22435036 22439067 - 12504858 254664 ABBA01057174;AMYH02037613;AP000953;NG_002448 pseudo HGNC:16756 INFERRED 1351416 MAPK6PS3 mitogen-activated protein kinase 6 pseudogene 3 13 13 13 q14.13 23699530 23703691 - 42641853 42646014 - 42067717 42071878 - 12504858 317684 ABBA01021259;AL157932;AMYH02027929;NG_002453;NG_029191 pseudo HGNC:18977 INFERRED 1347733 MAPK6PS4 mitogen-activated protein kinase 6 pseudogene 4 8 8 8 q11.1 43867121 43871190 - 47882951 47887020 - 46971328 46975397 - 12504858 286065 ABBA01018441;AC026241;AC103773;AMYH02017932;NG_002451 2217592 MAPK6_180.2 Erk3ps4 pseudo HGNC:18456 INFERRED 619570 MAPK3 mitogen-activated protein kinase 3 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 72661419 72670625 + 30125426 30134630 - 30114105 30123309 - 1580863;1357969;737801;1626216;6480464;6484113;6907045;8553011 10558995;12835716;16955078;17310240 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5595 B3KR49;E9PBK7;E9PJF0;E9PQW4;E9PRH7;H0YDH9;H0YEX6;L7RXH5;P27361;Q9BWJ1 ABBA01013103;AC012645;AC243947;AJ222708;AK091009;AK307995;AY033607;AY033608;BC000205;BC013992;BX537897;CH471238;DA351318;DQ399291;EU332853;HC462820;JX512450;KJ534878;M84490;NG_029936;NM_001040056;NM_001109891;NM_002746;X60188;XR_243293;Z11696 AAA36142;AAH00205;AAH13992;AAK52329;AAK52330;ABD60302;ABM84366;ABM87777;ABY87542;AGC09597;AHW56518;BAG52261;CAA42744;CAA77754;CAD97888;CBK51145;EAW79912;EAW79913;EAW79914;EAW79915;EAW79916;EAW79917;NP_001035145;NP_001103361;NP_002737;P27361 Hs.861 1662843;1684726;1687037;1797848 G15873;MAPK3_2268;RH77963;SHGC-61070 ERK-1;ERK1;ERT2;HS44KDAP;HUMKER1A;MAPK 1;MAPK 3;MGC20180;P44ERK1;P44MAPK;PRKM3;p44-ERK1;p44-MAPK MAP kinase 1;MAP kinase 3;MAP kinase isoform p44;OTTHUMP00000163018;OTTHUMP00000174538;OTTHUMP00000174539;OTTHUMP00000174540;OTTHUMP00000174541;OTTHUMP00000233574;OTTHUMP00000233575;OTTHUMP00000233577;extracellular signal-regulated kinase 1;extracellular signal-related kinase 1;insulin-stimulated MAP2 kinase;microtubule-associated protein 2 kinase;mitogen-activated protein kinase 1 APPROVED protein-coding ENSG00000102882 HGNC:6877 03479 601795 REVIEWED 619564 MAPK14 mitogen-activated protein kinase 14 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 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1432 B4E0K5;B5TY33;E7EX54;H7C4E2;L7RSM2;Q16539 AB074150;ABBA01038249;ABBA01038250;ABBA01038251;AF100544;AK291709;AK303414;AMYH02013551;BC000092;BC031574;BT006933;CH471081;CR536505;DA438432;EU332860;FJ032367;FJ032368;JX512452;L35263;L35264;NM_001315;NM_139012;NM_139013;NM_139014;U19775;XM_006714998;Z25432;Z95152 AAA57455;AAA57456;AAC50329;AAF36770;AAH00092;AAH31574;AAP35579;ABY87549;ACI00233;ACI00234;AGC09599;BAB85654;BAF84398;BAG64467;CAA80919;CAG38743;EAX03867;EAX03868;EAX03869;EAX03870;EAX03871;EAX03872;EAX03873;NP_001306;NP_620581;NP_620582;NP_620583;Q16539;XP_006715061 Hs.485233 1342261;1659174;1671566;1678359;1680914;1714715;1778148;1796298;1852948;2133597;2133599;2142206;2173680 A006I20;D3S2320;D6S1210E;D6S1848;G20844;MAPK14_184;RH120022;RH17930;RH37452;RH46846;RH80957;STS-AA022950;STS-L35253 CSBP;CSBP1;CSBP2;CSPB1;EXIP;Mxi2;PRKM14;PRKM15;RK;SAPK2A;p38;p38ALPHA CSAID-binding protein;Csaids binding protein;MAP kinase 14;MAP kinase Mxi2;MAP kinase p38 alpha;MAPK 14;MAX-interacting protein 2;OTTHUMP00000216561;OTTHUMP00000216562;OTTHUMP00000216563;OTTHUMP00000216564;OTTHUMP00000216566;cytokine suppressive anti-inflammatory drug binding protein;cytokine suppressive anti-inflammatory drug-binding protein;mitogen-activated protein kinase p38 alpha;p38 MAP kinase;p38 mitogen activated protein kinase;p38alpha Exip;stress-activated protein kinase 2A APPROVED protein-coding ENSG00000112062 HGNC:6876 02619 600289 REVIEWED 1348878 MAPK6PS5 mitogen-activated protein kinase 6 pseudogene 5 8 8 8 q23.1 106670052 106672167 + 110482367 110484483 + 109470138 109472254 + 12504858 286156 ABBA01037712;AC021001;AMYH02018602;NG_002452 1694630 G43355 pseudo HGNC:18979 INFERRED 1345501 MAPK6PS6 mitogen-activated protein kinase 6 pseudogene 6 10 10 10 q11.23 44565707 44569062 + 50979109 50982464 + 49771063 49774418 + 12504858 282967 ABBA01041068;AC069546;AMYH02022988;NG_002449 pseudo HGNC:18978 INFERRED 733615 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011] 11 11 11 p11.2 46054811 46075621 + 45907047 45928016 + 45885496 45906465 + 633194;1580863;1579811;2293880;6480464;6907045;7240710;8554872 15816852;17726577;9442013 10490659;10574993;10629060;10700186;10748095;10827173;11147798;11238452;11517249;11585908;11700324;11724784;11726277;11790792;11907332;11912189;12024021;12064607;12194869;12477932;12508107;12524447;12563035;12665528;12740599;12756254;12783873;12893827;12917434;12937412;14507925;15138488;15868948;15894166;15911620;15998799;16169070;16273093;16301330;16456539;16533805;16840345;17200414;17709393;18055217;18286207;18480379;19491104;19616077;20173330;20205790;21237154;23172226;23360921;23770673;23825109;24144296;8619474;9110174;9235893;9733513;9933567 9479 E9PBB9;Q6NUQ9;Q9UQF2 AB209720;ABBA01060758;AC068385;AF007134;AF074091;AK293637;AK295942;AMYH02024693;BC035920;BC068470;BI548334;CH471064;DB473314;NG_012153;NM_005456;XM_005253226 AAC19150;AAD20443;AAH68470;BAD92957;BAG58726;BAH11553;EAW68027;EAW68028;NP_005447;Q9UQF2;XP_005253283 Hs.234249 1700176;1730173;1760995;2145254;5122207 D11S946E;RH103702;RH64899;RH78669;SHGC-144940 IB-1;IB1;JIP-1;JIP1;PRKM8IP C-Jun-amino-terminal kinase-interacting protein 1;JNK MAP kinase scaffold protein 1;JNK-interacting protein 1;OTTHUMP00000166057;OTTHUMP00000166058;PRKM8 interacting protein;islet-brain 1;mitogen-activated protein kinase 8-interacting protein 1 APPROVED protein-coding ENSG00000121653 HGNC:6882 05223 125853;604641 REVIEWED 1351126 MAPK8IPP mitogen-activated protein kinase 8 interacting protein, pseudogene 17 17 q21.31 44320972 44322410 + 46243606 46245044 + 9933567 644253 AC005829;AC127032;AC139677;AC243899;NG_022469 1730173 D11S946E PRKM8IPP pseudo HGNC:6885 INFERRED 1320222 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014] 22 22 22 q13.33 34915169 34926024 + 51039131 51049979 + 50600702 50611551 + 1580863;2293891;2293880;6480464;6907045 17481747;17726577 10490659;10591208;10629060;10756100;10827173;11378392;12023290;12024021;12244047;12477932;12508107;12524447;12529303;12893827;15489334;16169070;16273093;16301330;16456539;18286207;20173330;21048139;21890473;21900206;23225497;24551779;24561123;8619474;8889548;9110174 23542 J3KNN6;Q13387 ABBA01042622;ABBA01042623;ABBA01042624;AF136382;AF218778;AK293580;AK294265;AL021708;AMYH02038620;BC009940;BC037271;BC047527;BQ270598;BU732443;CH471138;DB483256;KF573648;NG_032955;NM_012324;NM_016431;U62317;U79261 AAB03340;AAB50207;AAF00980;AAF32323;AAH09940;AAH47527;ACE87814;ACT64536;BAG57050;BAG57558;CAA16714;EAW73577;EAW73578;EAW73579;EAW73580;NP_036456;NP_057515;Q13387 Hs.558180 1748377;1773609 G65735;SHGC-2955 IB-2;IB2;JIP-2;JIP2;PRKM8IPL C-Jun-amino-terminal kinase-interacting protein 2;JNK MAP kinase scaffold protein 2;JNK MAP kinase scaffold protein JIP2;JNK-interacting protein 2;OTTHUMP00000196549;OTTHUMP00000196550;PRKM8 interacting protein-like;homologous to mouse JIP-1;islet-brain 2;islet-brain-2;mitogen-activated protein kinase 8-interacting protein 2 APPROVED protein-coding ENSG00000008735 HGNC:6883 09674 607755 REVIEWED 1345735 MAPK7 mitogen-activated protein kinase 7 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16693845 16699668 + 19281034 19286857 + 19377721 19383544 + 1580863;2298794;2298796;2298532;6480464;6907045 11782488;16376520;18071319 10072598;10473620;10531364;10781600;10849446;11139578;11254654;11278431;11544482;11739740;11948414;12042304;12048211;12091247;12239168;12477932;12628002;12637502;12659851;14583600;14679215;14718574;15075238;15276183;15548525;15608616;15692064;15716121;15994942;16166637;16177794;16316418;16344560;16456541;16626623;16735500;16835228;16941494;16950928;17018293;17052197;17131384;17148583;17272811;17322878;17342168;17452529;17567985;17624732;17692050;17998143;18280112;18322228;18472963;18567890;18588859;18716062;18973138;19011954;19089993;19304531;19414528;19440538;19605361;19666008;19823867;19855844;19913121;20232315;20237496;20538799;20551324;20628086;20628425;20643107;20687930;20729331;20736307;20736311;20830310;20832753;20936779;20956558;21166929;21187442;21266977;21394196;21483099;21767578;21820407;21832049;21988832;22154052;22213073;22260700;22707717;22869143;22939624;23043106;23321517;23382384;23428871;23446998;23532886;23602568;23608189;23730213;23804708;23824909;23950888;24095924;24250222;24264602;24462874;24501354;24857985;24975362;7646528;7759517;8631994;9384584;9461566;9535905;9535909;9753748;9790194;9858528 5598 C9JUK9;I3L0J8;J3KT50;J3KT61;Q13164;S4R3I1 AB209611;ABBA01054609;AC124066;AK295376;AMYH02033165;AY534741;BC007404;BC007992;BC009963;BC030134;BP871947;CH471212;DA452383;DB133227;NM_002749;NM_139032;NM_139033;NM_139034;U25278;U29725;U29726;U29727;XM_005256719;XM_006721557;XM_006721558;XM_006721559;XM_006721560 AAA81381;AAA82931;AAA82932;AAA82933;AAH07404;AAH07992;AAH09963;AAH30134;AAS38577;ADR82751;BAD92848;BAG58335;EAW50883;EAW50884;EAW50885;EAW50886;EAW50887;NP_002740;NP_620601;NP_620602;NP_620603;Q13164;XP_005256776;XP_006721620;XP_006721621;XP_006721622;XP_006721623 Hs.150136 1657872;1681913;1850159;2191425;2218562;5492261;7185892 D17S1287;MAPK7_4125;MARC_21800-21801:1025034309:1;Mapk7;RH64914;RH79913;STS-U29725 BMK-1;BMK1;ERK-5;ERK4;ERK5;MAPK 7;PRKM7 BMK1 kinase;MAP kinase 7;OTTHUMP00000065906;OTTHUMP00000065907;big MAP kinase 1;extracellular signal-regulated kinase 5;extracellular-signal-regulated kinase 5 APPROVED protein-coding ENSG00000166484 HGNC:6880 03952 602521 REVIEWED 1313344 MAPKAP1 mitogen-activated protein kinase associated protein 1 This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008] 9 9 9 q33.3 98848793 99118649 - 128199673 128469513 - 125437394 125707234 - 1580863;2308795;6480464;6484113 19339977 12477932;15324660;15363842;15489334;15718470;15722200;15778465;15988011;16000324;16189514;16919458;16962653;17043309;17054722;17081983;17303383;17314511;17461779;18030348;18316587;1849280;18505677;18566586;18566587;18570873;18687895;19851296;19875983;19913121;20198315;20379614;20628086;20832730;21045808;21139048;21170086;21177249;21757730;21988832;22505404;22990118;23564492;23762398;24161930;24250222;24365180;24395886 79109 B1AMA5;B1AMA6;B1AMB1;B1AMB2;B7Z5E5;E9PGB8;H0Y7F8;H0Y866;Q9BPZ7 ABBA01043789;ABBA01043790;ABBA01043791;AK290060;AK295364;AK298841;AK309507;AK310361;AK316149;AL162584;AL358074;AL359632;AL833042;AMYH02021651;AMYH02021652;AY425957;AY524429;AY524430;AY524431;AY524432;AY633624;AY633625;AY633626;BC002326;BC003044;BC035236;BX438260;CH471090;M37191;NM_001006617;NM_001006618;NM_001006619;NM_001006620;NM_001006621;NM_024117 AAA36551;AAH02326;AAH03044;AAR07950;AAS90839;AAS90840;AAS90841;AAS90842;AAT46478;AAT46479;AAT46480;ABM83654;ABW03519;BAF82749;BAH12045;BAH12881;BAH14520;CAH56311;EAW87630;EAW87631;EAW87632;EAW87633;NP_001006618;NP_001006619;NP_001006620;NP_001006621;NP_001006622;NP_077022;Q9BPZ7 Hs.495138 1675161;1786920;1786938;1786946;1787180;1848999;2140957;2141349;2159142;2161494 D9S1113;D9S1925;RH41772;SHGC-133110;SHGC-142173;SHGC-142548;SHGC-79850;STS-H61698;WI-14903;WI-18185 JC310;MGC2745;MIP1;SIN1;SIN1b;SIN1g;mSIN1 MEKK2-interacting protein 1;OTTHUMP00000022135;OTTHUMP00000022137;OTTHUMP00000022139;OTTHUMP00000022140;OTTHUMP00000022141;OTTHUMP00000215289;SAPK-interacting protein 1;TORC2 subunit MAPKAP1;mitogen-activated protein kinase 2-associated protein 1;ras inhibitor MGC2745;stress-activated map kinase interacting protein 1;stress-activated map kinase-interacting protein 1;stress-activated protein kinase-interacting 1;target of rapamycin complex 2 subunit MAPKAP1 APPROVED protein-coding ENSG00000119487 HGNC:18752 17464 610558 REVIEWED 1312732 MAPKAPK3 mitogen-activated protein kinase-activated protein kinase 3 This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011] 3 3 3 p21.3 50627403 50659525 + 50649293 50686728 + 50611862 50649297 + 1580863;2315047;6480464;6907045 16421520 10781029;11157753;11520933;11975836;12171600;12477932;15276183;15302577;15489334;15563468;15850461;16341674;17207965;17894482;19208361;19367581;19913121;19937655;19953087;20628086;21832049;21900206;21988832;22087225;22505724;23000965;23127979;23455922;23487458;23602568;24816145;8603390;8622688;8626550;8774846;8846784;8943323;9207191;9297626 7867 C9J8E1;C9JPW3;H7C0G6;Q16644 AB451303;AB451434;ABBA01024542;ABBA01024543;AC096920;AK290969;AK313565;AMYH02006773;AMYH02006774;BC001662;BC007591;BC010407;BC068497;BE301676;BM848086;CH471055;DB450001;NM_001243925;NM_001243926;NM_004635;U09578;U43784 AAC50428;AAD09136;AAH01662;AAH07591;AAH10407;ACE87034;ACE87718;ADQ32312;BAF83658;BAG36339;BAG70117;BAG70248;EAW65131;EAW65132;EAW65133;NP_001230854;NP_001230855;NP_004626;Q16644 Hs.234521;Hs.735013 1664597;1680537;1793456;1793478;2107313;2112644;2146132 D3S4383;MAPKAPK3__7370;PMC22669P1;PMC22669P2;RH70632;RH93496;WI-13560 3PK;MAPKAP-K3;MAPKAP3;MAPKAPK-3;MK-3 MAP kinase-activated protein kinase 3;MAPK-activated protein kinase 3;MAPKAP kinase 3;OTTHUMP00000210805;OTTHUMP00000210806;OTTHUMP00000210807;chromosome 3p kinase APPROVED protein-coding ENSG00000114738 HGNC:6888 03678 602130 REVIEWED 732271 MAPK8 mitogen-activated protein kinase 8 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jun 2013] 10 10 10 q11.22 43195579 43229096 + 49514682 49647403 + 48306639 48439360 + 1581694;1582310;1582313;1580863;1582325;1582316;1582317;1582311;1582329;1582315;2298577;2298561;2293875;5490968;6480464;6484113;6907045;6218988;8554872 10051439;10773432;11435459;12668503;15302844;15309413;15608632;15797868;16311603;16699462;17064355;17306896;20699612;21894146 10187783;10346818;10357815;10383391;10391943;10393177;10394361;10419510;10446219;10471813;10490659;10509564;10521505;10523642;10551811;10567572;10585392;10597297;10601313;10629060;10713157;10722755;10747973;10756100;10797012;10799874;10856240;10878576;10912793;10913135;10962563;11042694;11057897;11062067;11108663;11153078;11238452;11260070;11278395;11278789;11278799;11279118;11279197;11279232;11283254;11323415;11350938;11387337;11408587;11432831;11448159;11468147;11479302;11489891;11504923;11517249;11525649;11551945;11566021;11602244;11606564;11698270;11700324;11707464;11749722;11781324;11788583;11865055;11907583;11912216;11931768;11944898;11948398;11971973;11983683;11988087;12023963;12039864;12052834;12058026;12058028;12079429;12089333;12095152;12097334;12121974;12135322;12138158;12140754;12143039;12148599;12167088;12171600;12185592;12189133;12206715;12223491;12225289;12228228;12239168;12242293;12296995;12351658;12351702;12354774;12359245;12376548;12391307;12413764;12417588;12421945;12477932;12478662;12514174;12538493;12576423;12591950;12592382;12646240;12646564;12659851;12689591;12697749;12707267;12714584;12734330;12756254;12763138;12775419;12787561;12788955;12804775;12810082;12818176;12821118;12847227;12853963;12857973;12859962;12874243;12878610;12902351;12917434;12958075;12960231;12963725;13130464;14500675;14500727;14504284;14514687;14517282;14532003;14551213;14557276;14561739;14572659;14597672;14612408;14633987;14637155;14688370;14699155;14701702;14701799;14702039;14724588;14729602;14764673;14766760;14967141;14981905;15013949;15169762;15184502;15225643;15238629;15246824;15276183;15299005;15302935;15326485;15334056;15345747;15383283;15456887;15474087;15483136;15516492;15527495;15528994;15538975;15542843;15569856;15590691;15603708;15629131;15637062;15655348;15657352;15659383;15665513;15677475;15688026;15693750;15696159;15721744;15722200;15733859;15749833;15755722;15769735;15778365;15778501;15827086;15850461;15857981;15860507;15890690;15958389;15979846;15981086;15998799;16007099;16038800;16086581;16105650;16153436;16157600;16166642;16176806;16243842;16260419;16260609;16264271;16282329;16283431;16291755;16307741;16321971;16328781;16339571;16344560;16381010;16395283;16407310;16412424;16434970;16446428;16465391;16481105;16533805;16539678;16549498;16569638;16581800;16611996;16636664;16648634;16687404;16699726;16740711;16760468;16794185;16802349;16810318;16814421;16815888;16824735;16895791;16912864;16927023;16972261;16983342;17008315;17023523;17054907;17074809;17079291;17145805;17158878;17178870;17189706;17192257;17255354;17296730;17303384;17317777;17363973;17453826;17478078;17481915;1748630;17496921;17541429;17545598;17568996;17584736;17603935;17620321;17626013;17640761;17652454;17690186;17693927;17699782;17702750;17703233;17704768;17719653;17785464;17875713;17883418;17904874;17908987;17913539;17933493;17942603;17967471;17982228;18003900;18025271;18036196;18055217;18082745;18086557;18087676;18094581;18160848;18164704;18181766;18199680;18212053;18218857;18219313;18249102;18253836;18256527;18276794;18286207;18288129;18292600;18293403;18297686;18316600;18316603;18325654;18337589;18344085;18348163;18356158;18373696;18387958;18401423;18405916;18429822;18439101;18457359;18495129;18506470;18524773;18540881;18541008;18547751;18570871;18573678;18594007;18603327;18620777;18636174;18651223;18663379;18667537;18681908;18682391;18703151;18713649;18713996;18718914;18723442;18757369;18769111;18782768;18813780;18815275;18818208;18845538;18922473;18936517;18950845;18957422;18978303;18979912;18982452;18989785;18996088;19033664;19036714;19037093;19041150;19052872;19056926;19060920;19069644;19071215;19074436;19097143;19153595;19154785;19159663;19166930;19168796;19194824;19204086;19206162;19234442;19245816;19248119;19270716;19275580;19286999;19287189;19319745;19339050;19351724;19352384;19418584;19424800;19454725;19468799;19478459;19479051;19523467;19527717;19567513;19570911;19574423;19589256;19593445;19596001;19604147;19616043;19620725;19638579;19651615;19664626;19667122;19676104;19686584;19690982;19693773;19695707;19723092;19723627;19748889;19778898;19782079;19801633;19802005;19803394;19806201;19815509;19822148;19822666;19859790;19862774;19864026;19877043;19893453;19900593;19901160;19910486;19913121;19923798;19937141;19940138;19940360;19966288;19995557;19996270;20018857;20027304;20051532;20056178;20056910;20060003;20069553;20070836;20070945;20074375;20086174;20088952;20102411;20103647;20116378;20130137;20133937;20138424;20139358;20142324;20145041;20150185;20156194;20173753;20194509;20225236;20336759;20371626;20380698;20432452;20450729;20452983;20457808;20483637;20483734;20490718;20495362;20510162;20511226;20512919;20512932;20525557;20551953;20566643;20573157;20581839;20622336;20628086;20632440;20647313;20648623;20680486;20717968;20732415;20735357;20829350;20870032;20878914;20919940;20944115;20960177;21106355;21122381;21123173;21134350;21139048;21145111;21148294;21148313;21152872;21156789;21172010;21172429;21187925;21191018;21212517;21223552;21237154;21362231;21364631;21364637;21368226;21378396;21384452;21439937;21444723;21454558;21465527;21483469;21483669;21504622;21511059;21524306;21526344;21629969;21651489;21660049;21697181;21719561;21729547;21752354;21757743;21764057;21768777;21775054;21806545;21817106;21822690;21832049;21856198;21863240;21900206;21906983;21930785;21931671;21943220;21948112;21959987;21964465;21984578;21988832;22005259;22014979;22021110;22087220;22100391;22110360;22114267;22154358;22164242;22171160;22184250;22283740;22327296;22351776;22357202;22363806;22394200;22433870;22435755;22446103;22447977;22450687;22456510;22493283;22493490;22505724;22506718;22509080;22689214;22729748;22749438;22763043;22766602;22844345;22850273;22870247;22902540;22920299;23020677;23051914;23056263;23077074;23237571;23258237;23273084;23290789;23326144;23359252;23393199;23416355;23440494;23555914;23580093;23602568;23603344;23608488;23608534;23615449;23662689;23712703;23715767;23762317;23770673;23799149;23816567;23817665;23857473;23861391;23863879;23891538;23900581;23900681;23906792;23912840;23916702;23922701;24008433;24023255;24023291;24037431;24040019;24044867;24055030;24086554;24091673;24127566;24170769;24184208;24225136;24316756;24335928;24366007;24457963;24502975;24515990;24589734;24661418;24679696;24704364;24975362;7535770;7642542;7737129;7737130;7839144;8001819;8137421;8177321;8224842;8586671;8621542;8632909;8654373;8846788;8917518;9020136;9030579;9045910;9129988;9162092;9195981;9199329;9199504;9207092;9211903;9223324;9235954;9343414;9374537;9393873;9396779;9399639;9403476;9405400;9405416;9520479;9575168;9621077;9661668;9670954;9692890;9724739;9732264;9733513;9774977;9788880;9808624;9851932;9872331;9889198 5599 A1L4K2;A6NF29;C9J762;C9JWQ4;P45983 AA808177;AB074280;AB451231;AB451271;AB451354;AB451398;ABBA01047222;AC016397;AC074325;AK125150;AK292523;AL137667;AMYH02022973;AMYH02022974;BC130570;BC130572;BC144063;CH471187;DA159335;DQ234352;L26318;NG_029053;NM_001278547;NM_001278548;NM_002750;NM_139046;NM_139049;U34822;U35004;U35005;XM_006717917;XM_006717918;XM_006717919 AAA36131;AAC50607;AAC50610;AAC50611;AAI30571;AAI30573;AAI44064;ABB29981;ADR83167;BAF85212;BAG70045;BAG70085;BAG70168;BAG70212;EAW93129;EAW93130;EAW93131;EAW93132;EAW93133;EAW93134;EAW93135;EAW93136;EAW93137;EAW93138;NP_001265476;NP_001265477;NP_002741;NP_620634;NP_620637;P45983;XP_006717980;XP_006717981;XP_006717982 Hs.138211;Hs.522924 1653647;2118276;2121024;2143357;2151805;2158579;2172214;2173400;2190993;2191017 A004M36;D10S2185;G17482;G17487;HSC1IF052;MARC_12374-12375:997362452:1;MARC_13424-13425:1002294866:1;RH69616;STS-L26318;STS-T94087 JNK;JNK-46;JNK1;JNK1A2;JNK21B1/2;MAPK 8;PRKM8;SAPK1;SAPK1c JNK1 alpha protein kinase;JNK1 beta protein kinase;JUN N-terminal kinase;MAP kinase 8;OTTHUMP00000019552;OTTHUMP00000019555;OTTHUMP00000019556;OTTHUMP00000019558;c-Jun N-terminal kinase 1;mitogen-activated protein kinase 8 isoform JNK1 alpha1;mitogen-activated protein kinase 8 isoform JNK1 beta2;protein kinase JNK1;stress-activated protein kinase 1;stress-activated protein kinase 1c;stress-activated protein kinase JNK1 APPROVED protein-coding ENSG00000107643 HGNC:6881 03100 601158 REVIEWED 1354160 MAPKAPK5 mitogen-activated protein kinase-activated protein kinase 5 The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012] 12 12 12 q24.13 111905742 111956689 + 112280032 112331228 + 111842199 111893424 + 2315047;6480464;6907045 16421520 10708586;10978317;12117915;12130507;12171600;12477932;12808055;14702039;15489334;17254968;17894482;18029348;18720373;19166925;19473979;19484198;19953087;20849292;20936779;21177870;21336308;21675959;21900206;21988832;22279049;23022185;23602568;23685072;8636128;9468497;9480836;9628874 8550 F8VRP2;Q8IW41;R4GN33;R4GN93 ABBA01019911;ABBA01019912;ABBA01019913;ABBA01019914;ABBA01019915;AC003029;AF032437;AK122767;AL110301;AMYH02027212;AW780199;BC000833;BC041049;BC047284;BG502445;CH471054;NM_003668;NM_139078;XM_005253974;XM_005253975;XM_005253976;XM_005253977;XM_005253978;XM_005253979 AAC39863;AAH00833;AAH41049;AAH47284;BAG53717;CAB53747;EAW97979;EAW97980;EAW97981;NP_003659;NP_620777;Q8IW41;XP_005254031;XP_005254032;XP_005254033;XP_005254034;XP_005254035;XP_005254036 Hs.333120;Hs.413901 1666597;1779039;2108237;2171613;5093788 A009W37;D12S1333;G32924;MAPKAPK5_8828;RH17458 MAPKAP-K5;MK-5;MK5;PRAK MAP kinase-activated protein kinase 5;MAPK-activated protein kinase 5;MAPKAP kinase 5;MAPKAPK-5;OTTHUMP00000241666;OTTHUMP00000241669;p38-regulated/activated protein kinase APPROVED protein-coding ENSG00000089022 HGNC:6889 09467 606723 REVIEWED 2292059 MAPKAPK5-AS1 MAPKAPK5 antisense RNA 1 INTERACTS WITH all-trans-retinoic acid; valproic acid 12 12 12 q24.12 111903036 111906169 - 112277571 112280706 - 111839769 111842902 - 6480464 12477932;14702039 51275 Q8N8E1 ABBA01019911;AC003029;AF229831;AK096935;AMYH02027212;BC007973;BC015633;BC023547;BC032560;BC107695;CH471054;HG505178;HG505180;NR_015404 AAF42916;BAC04904;EAW97977;EAW97978;Q8N8E1 Hs.333120 1682834;5493189 RH15759;UniSTS:484688 AC003029.1;C12orf47;FLJ39616 APPROVED ncrna ENSG00000234608 HGNC:24091 16946 PREDICTED 1347522 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1968494 2032593 + 1756184 1820318 + 1706183 1770317 + 1580863;2293339;2293880;6480464;6907045;8699517;8554872 16805806;17726577 10470851;10523642;10629060;11024282;11044439;11106729;11157797;11214971;11274738;11738026;12189133;12226752;12477932;12941697;14702039;14968112;15146197;15258908;15302935;15532711;15616553;15911620;16141199;16147992;16169070;16341674;16368877;16456539;19036714;19574423;20018857;20173330;20946988;21697133;21775604;22072677 23162 E9PFH7;H3BN91;Q9UPT6 AB028989;AB621811;ABBA01030296;ABBA01030297;ABBA01030298;ABBA01030299;AC012180;AE006639;AI291346;AK024437;AL031710;AL031717;AL031718;AMYH02031235;BC087861;BC137123;BC137124;BC144486;BC150266;BM791368;BQ083050;BQ231003;BQ961808;BY795428;CA776361;CD557812;CH471112;CN361410;CN405914;CN405915;CR749696;NM_001040439;NM_015133;XM_005255187;XM_005255188;XM_005255190;XM_006720868;XM_006720869 AAI37124;AAI37125;AAI44487;AAI50267;AAK61290;BAA83018;BAB15727;BAK64147;CAB72318;CAH18476;EAW85630;EAW85631;EAW85632;EAW85633;NP_001035529;NP_055948;Q9UPT6;XP_005255244;XP_005255245;XP_005255247;XP_006720931;XP_006720932 Hs.207763 2117786;2220256 AB071076;SHGC-64938 DKFZp762N1113;FLJ00027;JIP-3;JIP3;JSAP1;KIAA1066;SYD2;syd C-Jun-amino-terminal kinase-interacting protein 3;C-jun-amino-terminal kinase interacting protein 3;JNK MAP kinase scaffold protein 3;JNK-interacting protein 3;JNK/SAPK-associated protein-1;JNK/stress-activated protein kinase-associated protein 1;OTTHUMP00000158803;homolog of Drosophila Sunday driver 2;mitogen-activated protein kinase 8-interacting protein 3 APPROVED protein-coding ENSG00000138834 HGNC:6884 12014 605431 REVIEWED 1606829 MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2 This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q32 180109718 180159069 + 206858295 206907630 + 206684949 206734285 + 2315047;6480464;6484113;6907045 16421520 10318869;10383393;10559880;10753652;10779545;10781029;11042204;11359875;11448140;11520933;11551945;11839738;11844797;12147348;12171600;12171911;12377770;12456657;12477932;12565831;12582162;12751751;12791252;12829704;12861023;1332886;14499342;14517288;14688255;15014438;15094067;15271996;15276183;15287722;15489334;15629715;15688025;15692053;15850461;16278218;16407830;16424170;16456544;16774924;16861915;17030608;17255097;17292828;17395714;17481585;18160429;18326031;18371353;18440775;19171422;19322201;19672773;19951368;20057052;20068172;20081887;20212154;20375303;20595389;20805296;20932473;21078877;21131586;21145461;21182205;21606198;21675959;21988832;22119462;22200507;22268119;22351694;22883146;22983351;23128233;23152511;23185379;23202365;23264053;23455922;23602568;23657501;23740979;23744329;24020373;24056810;24082115;24304496;24469230;24816145;6150037;7592979;7799959;7901013;7905823;7923354;8179591;8280084;8413226;8617238;8774846;8846784;8887554;8995217;8995385;9297626;9628873;9687510;9759836;9768359 9261 P49137 ABBA01010192;AK307499;AL591846;AMYH02002553;BC036060;BC052584;BU621009;CH471100;NG_029640;NM_004759;NM_032960;X75346;XM_005273353 AAH36060;AAH52584;CAA53094;EAW93525;EAW93526;EAW93527;EAW93528;EAW93529;EAW93530;EAW93531;EAW93532;NP_004750;NP_116584;P49137;XP_005273410 Hs.643566;Hs.713747 1761677;1768992;2121962;2131462;2165000;2169689;2181618 AL010045;D1S3257;RH70191;RH70252;SHGC-145653;SHGC-34637;SHGC-76226 MAPKAP-K2;MK-2;MK2 MAP kinase-activated protein kinase 2;MAPK-activated protein kinase 2;MAPKAP kinase 2;MAPKAPK-2;OTTHUMP00000034531;OTTHUMP00000034532 APPROVED protein-coding ENSG00000162889 HGNC:6887 11882 602006 REVIEWED 736023 MAPK9 mitogen-activated protein kinase 9 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008] 5 5 5 q35 175286573 175345058 - 179660594 179719071 - 180233594 180292071 - 1580863;1582314;1300048;1302568;2298577;2304231;2298561;2293875;6480464;6484113;6907045 10051439;10559486;15567863;17064355;17306896;18081878 10376527;10381549;10383391;10471813;10490605;10490659;10523642;10629060;10669748;10797012;10811224;10878576;11024282;11042694;11057897;11062067;11172026;11278395;11278789;11279232;11359773;11468147;11504923;11527157;11566021;11602244;11698270;11749722;11948398;11959861;12023963;12089333;12110590;12151396;12167088;12171600;12189133;12225289;12228228;12239168;12384512;12417588;12477932;12538493;12714584;12743126;12775419;12788955;12818176;12821118;12857973;12960231;14504284;14581471;14724588;15158451;15184502;15246824;15262983;15276183;15326485;15474087;15489334;15527495;15603708;15629715;15637069;15655348;15693750;15778501;15860507;15911620;15998799;1602151;16169070;16189514;16381010;16412424;16481105;16533805;16552729;16611996;16824735;17074809;17189706;17192257;17296730;17397142;17637567;17785791;17875713;17908987;18262097;18423204;18439101;18586006;18612143;18801372;18838864;18940813;18950845;19060904;19093167;19097143;19153595;19154785;19204086;19339050;19385049;19527717;19567513;19589256;19591174;19596001;19620725;19651615;19667122;19806201;19864026;19906316;19910486;19913278;19996270;20056178;20174665;20354187;20379614;20432452;20483637;20525557;20595622;20871632;20936779;21110917;21139048;21357683;21364637;21384452;21504622;21572099;21629969;21749326;21890473;21900206;21906983;21988832;22105759;22217202;22366412;22505724;22689214;22730327;22748923;22910906;22939629;23045269;23071284;23171849;23273084;23341463;23515281;23602568;23615449;23900581;23912840;24127566;24335928;24447338;24704364;24722904;24740539;24802394;24816145;602896;7642542;7737129;7969172;8001819;8548291;8626452;8649858;8654373;8846788;8945519;8985011;9019171;9045910;9130707;9155018;9374467;9393873;9403476;9405416;9628874;9732264;9733513 5601 D7R525;D7R528;E5RJ57;J3KNK1;P45984 AB451302;AB451355;AB451433;ABBA01010059;ABBA01010060;ABBA01010061;ABBA01010062;ABBA01010063;AC008610;AC104115;AK289638;AMYH02012903;BC032539;BQ025589;CH471165;CR536580;DB451562;DQ066599;EU927388;HM036706;HM036707;HM036708;HM036709;L31951;NG_029059;NM_001135044;NM_002752;NM_139068;NM_139069;NM_139070;U09759;U34821;U35002;U35003;XM_005265940;XM_006714891 AAA56831;AAA74740;AAC50606;AAC50608;AAC50609;AAH32539;AAY46156;ABM84639;ABW03645;ACH57450;ADH10365;ADH10366;ADH10367;ADH10368;BAF82327;BAG70116;BAG70169;BAG70247;CAG38817;EAW53757;EAW53758;EAW53759;EAW53760;EAW53761;EAW53762;EAW53763;EAW53764;EAW53765;NP_001128516;NP_002743;NP_620707;NP_620708;NP_620709;P45984;XP_005265997;XP_006714954 Hs.484371 1687013;1688297;1717441;1730345;1735460;1750245;1762521;1763481;1785724;1797850;2166545;2172536;2172724;2185297 1806;D5S1584E;D5S1618E;D5S2449;D5S445E;MAPK9_2236;RH122211;RH15681;RH36378;RH80226;SHGC-112628;SHGC-146334;SHGC-147181;SHGC-80682 JNK-55;JNK2;JNK2A;JNK2ALPHA;JNK2B;JNK2BETA;MAPK 9;PRKM9;SAPK;SAPK1a;p54a;p54aSAPK Jun kinase;MAP kinase 9;OTTHUMP00000161542;OTTHUMP00000161543;OTTHUMP00000224159;OTTHUMP00000224168;OTTHUMP00000224169;OTTHUMP00000224170;c-Jun N-terminal kinase 2;c-Jun kinase 2;stress activated protein kinase alpha ii;stress-activated protein kinase 1a;stress-activated protein kinase JNK2 APPROVED protein-coding ENSG00000050748 HGNC:6886 04206 602896 REVIEWED 5684449 MAPRE1P3 MAPRE1 pseudogene 3 2 2 166141763 166142555 + 165285253 165286045 + 100422229 ABBA01004917;AC011303;AMYH02005132;NG_031906 pseudo HGNC:37762 INFERRED 732502 MAPK1 mitogen-activated protein kinase 1 This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014] 22 22 22 q11.21 5931476 6039519 - 22113946 22221970 - 21759657 21867680 - 1582284;1580863;1582283;1582282;1582281;1357969;1302576;1626216;2314939;6480464;6484113;6907045;8553011;7244171;7243971;7243957;7244173;7244159;7243969;7243972;8554872 12835716;14502223;15213271;15583728;15607907;15653762;15669185;15928662;16955078;17310240;19923143;20203158;22045654;22392145;22950999;23698112 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5594 P28482;Q1HBJ4;Q499G7 ABBA01055067;ABBA01055068;ABBA01055069;ABBA01055070;ABBA01055071;AC245452;AI004470;AK055080;AK057143;AK090869;AK295188;AK307615;AMYH02038121;AP000553;AP000554;AP000555;BC017832;BC099905;BQ774391;CH471095;DQ399292;DQ508104;EF565108;EU332852;HC462822;JX512449;NG_023054;NM_002745;NM_138957;Z11694;Z11695 AAH17832;AAH99905;ABD60303;ABF47102;ABW03774;ABY87541;ACE86441;ACE87116;AGC09596;BAG58192;CAA77752;CAA77753;CBK51146;EAW59479;EAW59480;EAW59481;EAW59482;NP_002736;NP_620407;P28482 Hs.431850 1672214;1735064;1735070;1784550;1796300;2130847;2167908 D22S1011E;D22S1022E;G30303;MAPK1_921;RH47000;SHGC-172572;SHGC-34055 ERK;ERK-2;ERK2;ERT1;MAPK 2;MAPK2;P42MAPK;PRKM1;PRKM2;p38;p40;p41;p41mapk;p42-MAPK MAP kinase 1;MAP kinase 2;MAP kinase isoform p42;OTTHUMP00000028754;OTTHUMP00000174492;extracellular signal-regulated kinase 2;mitogen activated protein kinase 1;mitogen-activated protein kinase 2;protein tyrosine kinase ERK2 APPROVED protein-coding ENSG00000100030 HGNC:6871 01496 176948 REVIEWED 7241985 MAPKAPK5P1 mitogen-activated protein kinase-activated protein kinase 5 pseudogene 1 10 10 110607961 110609317 + 108848203 108849559 + 100533849 ABBA01063046;AL356476;AMYH02023783;NG_028758 pseudo HGNC:45246 INFERRED 1604640 MAPKBP1 mitogen-activated protein kinase binding protein 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; trichostatin A; vincristine 15 15 15 q15.1 18834268 18887696 + 42066632 42120053 + 41774434 41827855 + 6480464;8554872 10471813;12477932;14702039;15491607;16713569;19913121;20628086;22700971;23341463;9628581 23005 D6R9F7;D6RAI2;D6RHX7;O60336 AB011168;AB177850;ABBA01038386;ABBA01038387;ABBA01038388;ABBA01038389;AC020659;AC073657;AK091616;AK292414;AK302482;AL833267;AMYH02030277;AMYH02030278;BC036660;BC113983;BC114493;BX640787;BX648786;CH471125;NM_001128608;NM_001265611;NM_014994;NR_049761;NR_049762;XM_006720438;XM_006720439 AAH36660;AAI13984;AAI14494;BAA25522;BAD66828;BAF85103;BAG63769;EAW92514;EAW92515;EAW92516;EAW92517;EAW92518;EAW92519;NP_001122080;NP_001252540;NP_055809;O60336;XP_006720501;XP_006720502 Hs.513661 1747845;1768914;1783192;1849353;2114144 A004M13;G66816;NIB1403;RH77834;SHGC-144837 JNKBP-1;MGC138851;MGC138852 JNK-binding protein 1;OTTHUMP00000217816;OTTHUMP00000217817;OTTHUMP00000217820;mitogen activated protein kinase binding protein 1;mitogen-activated protein kinase binding protein 1-like;mitogen-activated protein kinase-binding protein 1 protein-coding ENSG00000137802 HGNC:29536 17465 VALIDATED 3184476 MAPRE1P2 MAPRE1 pseudogene 2 4 4 4 p15.1 33452151 33452951 - 33010889 33013440 - 33009267 33011818 - 20031603 642305 ABBA01074268;AC017013;AMYH02008996;NG_028945 1794588 PMC321570P4 pseudo HGNC:37761 INFERRED 1343455 MAPRE3 microtubule-associated protein, RP/EB family, member 3 The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008] 2 2 2 p23.3-p23.1 27039865 27096433 + 27193525 27250087 + 26970657 27027219 + 1580863;6480464 10188731;10644998;11161807;12477932;14514668;15117959;15489334;15631994;16079286;16169070;16189514;17310996;18029348;19146815;19255245;19696028;20008324;20195357;20632835;21768326;21890473;22275434;23000965;23159740;23456299;23712260;24040250;24250222;9233623 22924 C9JB30;Q9UPY8 AB025186;ABBA01045192;AC013472;AF288787;AK302950;AK312342;AMYH02003470;BC011557;CH471053;CR536523;CR541845;NM_012326;XM_006711967;XM_006711968;Y11174 AAH11557;AAK07556;AAK07557;AAY14653;ABM83231;ABM86430;BAA82958;BAG35263;BAH13853;CAA72060;CAG38760;CAG46643;EAX00660;EAX00661;EAX00662;EAX00663;EAX00664;EAX00665;EAX00666;NP_036458;Q9UPY8;XP_006712030;XP_006712031 Hs.515860 1677678;1697390;1734788;1756557;1851484 D2S1562E;RH102194;RH12421;RH98551;SHGC-143589 EB3;EBF3;EBF3-S;RP3 APC binding protein;EB1 protein family member 3;OTTHUMP00000122582;OTTHUMP00000200909;OTTHUMP00000200910;OTTHUMP00000200911;end-binding protein 3;microtubule-associated protein RP/EB family member 3 APPROVED protein-coding ENSG00000084764 HGNC:6892 16156 605788 REVIEWED 5688568 MAPT-AS1 MAPT antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 17 17 17 q21.31 40567998 40620168 - 43920722 43972879 - 45843356 45895513 - 8554872 12477932;21738487;22693459;24429156;8889548 100128977 ABBA01031190;ABBA01031191;AC003662;AC010792;AC217770;AC217771;AC243621;AW205584;AW770488;BC018035;BM714794;BX544879;NR_024559 Hs.666302 1734406;2122405 D17S1380E;D17S1668 APPROVED ncrna HGNC:43738 VALIDATED 5688574 MAPT-IT1 MAPT intronic transcript 1 (non-protein coding) 17 17 17 q21.31 40620438 40623453 + 43973149 43976164 + 45895783 45898798 + 14702039;16344560 100130148 Q8NB19 ABBA01031191;AC004139;AC010792;AC217771;AC243621;AK091698;BF108492;BX544879;DA504438;DA789878;NG_007398;NR_024560 BAC03725 Hs.669307 ncrna ENSG00000279685 HGNC:43741 VALIDATED 2824416 MAPRE1P1 MAPRE1 pseudogene 1 8 8 8 q 132807959 132810407 - 136635827 136638275 - 135623584 135626032 - 11161807 80327 ABBA01012694;AC104371;AF288786;AMYH02018831;NG_002682 MAPRE1P pseudo HGNC:29624 INFERRED 1353139 MAPRE1 microtubule-associated protein, RP/EB family, member 1 The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008] 20 20 20 q11.1-q11.23 28161619 28192142 + 31407699 31438211 + 32819893 32850405 + 1580863;6480464;6484113;8554872 10030671;10188731;10226031;10644998;10773885;10811817;10899006;11076968;11470413;11701125;11780052;11943150;12221128;12388762;12475954;12477932;12686597;12852856;12857735;14514668;15489334;15592455;15616574;15631994;16030254;16455083;16462731;17002498;17350042;17968321;18029348;18477699;18937283;19126680;19255245;19543227;19632184;19696028;19737819;19738201;20008324;20205790;20508983;20696710;21139048;21319273;21562367;21565611;21737685;21737692;21768326;21832049;21890473;21906983;21963094;21988832;22277732;22467876;22543185;22623428;22735596;22748319;22863883;22869553;22898821;22939629;23000965;23001180;23128140;23251535;23455922;23527680;23595990;23687376;23698468;23824909;23864329;23871111;23900080;24040250;24237699;24462004;24492008;24616220;24725408;24816145;25015289;25065758;7606712;7790358;8889548;9724749 22919 B4DM33;Q15691 ABBA01019251;AK297273;AK310817;AK312590;AL035071;AMYH02036942;BC040410;BC106068;BC109281;BC128442;BJ992159;BM983860;CH471077;NM_012325;U24166 AAC09471;AAI06069;AAI09282;AAI28443;ACE87787;ACT64430;BAG35484;BAG59745;EAW76348;EAW76349;NP_036457;Q15691 Hs.472437 1671267;1784370;1794588;2141276;2164376;5015698;5111470 D17S2001;D5S1940;HSC03G092;PMC321570P4;RH18019;RH67821;SHGC-145265 EB1;MGC117374;MGC129946 APC-binding protein EB1;OTTHUMP00000030608;adenomatous polyposis coli-binding protein EB1;end-binding protein 1;microtubule-associated protein RP/EB family member 1 APPROVED protein-coding ENSG00000101367 HGNC:6890 04379 603108 REVIEWED 1606267 MARC2 mitochondrial amidoxime reducing component 2 ENCODES a protein that exhibits molybdenum ion binding; molybdopterin cofactor binding; nitrate reductase activity; INVOLVED IN nitrate metabolic process; oxidation-reduction process; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; mitochondrion; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; copper atom 1 1 1 q41 194141035 194176957 + 220921325 220958157 + 220747987 220784815 + 6480464;8554872 11076863;11230166;11256614;11886751;12477932;14702039;15489334;15489336;16381901;16710414;16973608;19875103;20379614;20808825;20861021;20877624;21029045;21803866;21890473;21916412;21963094;23703616;24500710 54996 F6V6Z1;Q969Z3;X1WI34 ABBA01048073;AK000583;AK000612;AL136931;AL359353;AL606726;AMYH02002734;AX191529;BC010366;BC011973;BC015829;BC016859;CH471100;EU567145;NM_017898;XM_005273168;XM_006711407;XR_247029 AAH11973;AAH15829;AAH16859;ACB21048;BAA91287;CAB66865;CAC51155;CAL37897;CAL38507;EAW93292;EAW93293;EAW93294;EAW93295;NP_060368;Q969Z3;XP_005273225;XP_006711470 Hs.369042 1666800;1718399 RH122974;SHGC-76375 FLJ20605;MOSC2;RP11-270A6.1 MOCO sulphurase C-terminal domain containing 2;MOSC domain-containing protein 2;MOSC domain-containing protein 2, mitochondrial;OTTHUMP00000035465;moco sulfurase C-terminal domain-containing protein 2;molybdenum cofactor sulfurase C-terminal domain-containing protein 2 APPROVED protein-coding ENSG00000117791 HGNC:26064 08628 614127 PROVISIONAL 1642105 MARCH11 membrane-associated ring finger (C3HC4) 11 MARCH11 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). These enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their intracellular transport. March11 appears to have a role in ubiquitin-mediated protein sorting in the trans-Golgi network (TGN)-multivesicular body (MVB) transport pathway (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010] 5 5 5 p15.1 16091141 16203521 - 16067474 16179897 - 16067365 16179788 - 6480464 12477932;17604280;20379614 441061 A6NNE9;H0Y9K6 ABBA01020654;ABBA01020655;ABBA01020656;ABBA01020657;AC016650;AC092335;AMYH02010917;AMYH02010918;BC150513;BC150514;DB455291;NM_001102562 A6NNE9;AAI50514;AAI50515;NP_001096032 Hs.662216 1700556;1855893;2137474 AFM242yb2;L31477;RH103899 MARCH-XI E3 ubiquitin-protein ligase MARCH11;OTTHUMP00000220741;membrane-associated RING finger protein 11;membrane-associated RING-CH protein XI APPROVED protein-coding ENSG00000183654 HGNC:33609 613338 PROVISIONAL 1344538 MAPRE2 microtubule-associated protein, RP/EB family, member 2 The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 18 18 18 q12.1 29364930 29530087 + 32556892 32723434 + 34976928 35143470 + 1580863;6480464;8554872 10030671;10188731;10811817;11076863;11161807;11256614;11470413;11593399;12388762;12475954;12477932;14514668;14702039;15489334;15489336;15592455;15631994;16007168;16189514;16381901;16455083;16763565;17081983;17350042;17558393;17889670;18081319;19656400;19696028;19778897;19787265;20008324;20379614;20391533;20585629;21139048;21462343;21832049;21890473;21963094;21988832;22216133;22424550;22505724;22939629;22990118;23000965;23813963;24816145;7606712;8889548;9233623;9724749 10982 K7EL66;K7ENB3;K7ERD8;M0QX52;Q15555 AB016823;ABBA01022453;ABBA01022454;AC009277;AC015967;AK090945;AK294833;AK296251;AK315766;AMYH02034548;AMYH02034549;AMYH02034550;AMYH02034551;BC007318;BM673789;BT020086;CH471088;CR536545;DC335558;DC341673;DC354326;DR422766;HI574148;KF456373;NM_001143826;NM_001143827;NM_001256420;NM_014268;NR_046177;X94232;XM_006722375 AAH07318;AAV38889;ABM83849;ABM87171;BAA83375;BAG38118;BAG52251;BAG58966;BAH11899;CAA63923;CAG38782;CAL38581;CBX47563;EAX01336;EAX01337;EAX01338;EAX01339;EAX01340;NP_001137298;NP_001137299;NP_001243349;NP_055083;Q15555;XP_006722438 Hs.532824 1337862;1646946;1685800;1687792;1715197;1718835;1734552;1770261;1796302;2118258;2160490;2161889;2176137 D18S1139;D18S1232;D18S1305;D18S912E;D18S960;D18S995;G18017;MAPRE2_365;RH119849;RH12114;RH123121;RH36306;SHGC-63455 EB1;EB2;RP1 APC-binding protein EB1;APC-binding protein EB2;OTTHUMP00000163373;T-cell activation protein, EB1 family;end-binding protein 2;microtubule-associated protein RP/EB family member 2 APPROVED protein-coding ENSG00000166974 HGNC:6891 16157 605789 REVIEWED 1344254 MARCH3 membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013] 5 5 5 q23.2 122380313 122496109 - 126203406 126366500 - 126867714 127030808 - 1580863;6480464;8554872 12477932;14722266;15489334;16428329;19549727;21832049;8619474;9110174 115123 Q86UD3 ABBA01068884;ABBA01068885;AC004507;AC005221;AC093532;AC137794;AF055007;AK000103;AK290129;AMYH02012156;AMYH02012157;AMYH02012158;BC047569;BC146948;BC146964;BG719261;CH471086;DB455278;NG_033192;NM_178450;XM_005271870 AAH47569;AAI46949;AAI46965;BAF82818;EAW48844;NP_848545;Q86UD3;XP_005271927 Hs.132441 1644183;1669535;1681362;1693508;1693556;2118491;2118493;2130192;2130269;2147789;2159887;2162875;2178066 RH12395;RH16315;RH17775;RH47138;RH47554;SGC30895;SGC33891;SGC35038;SHGC-57692;SHGC-58339;SHGC-58434;SHGC-58466;WI-20738 FLJ20096;MARCH-III;MGC48332;RNF173 E3 ubiquitin-protein ligase MARCH3;OTTHUMP00000159217;RING finger protein 173;membrane-associated RING finger protein 3;membrane-associated RING-CH protein III APPROVED protein-coding ENSG00000173926 HGNC:28728 14362 613333 REVIEWED 1604320 MARC1 mitochondrial amidoxime reducing component 1 ENCODES a protein that exhibits molybdenum ion binding; molybdopterin cofactor binding; nitrate reductase activity; INVOLVED IN nitrate metabolic process; oxidation-reduction process; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrion (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 1 1 1 q41 194179397 194207116 + 220960039 220987741 + 220786697 220814399 + 6480464;8554872 11886751;12477932;14702039;15489334;16196087;16344560;16710414;19053771;20686565;20861021;20877624;21029045;21139048;21326311;21493818;21803866;21890473;21963094;21987572;22118674;22939629;23086957;23503661;23703616;24097068;24500710;8125298 64757 H0YDX4;H7BYZ9;Q5VT66;X6RIL1 ABBA01048073;AK000035;AK026043;AK092439;AK094105;AK225416;AK290812;AL445423;AL606726;AMYH02002734;BC010619;CA439234;CB048738;CH471100;DA878171;NM_022746 AAH10619;BAB15333;BAC04286;BAF83501;EAW93291;NP_073583;Q5VT66 Hs.497816 1763219;1767751;2174306;2174308 A005B27;G20248;SHGC-146951;WI-20349 FLJ22390;MOSC1;RP11-295M18.1 MOCO sulphurase C-terminal domain containing 1;MOSC domain-containing protein 1;MOSC domain-containing protein 1, mitochondrial;OTTHUMP00000035461;OTTHUMP00000035462;mitochondrial amidoxime-reducing component 1;moco sulfurase C-terminal domain-containing protein 1;molybdenum cofactor sulfurase C-terminal domain-containing protein 1 APPROVED protein-coding HGNC:26189 08653 614126 VALIDATED 1601818 MARCH10 membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase MARCH10 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010] 17 17 17 q23.2 55166551 55273592 - 60778675 60885705 - 62701314 62808381 - 6480464;8554872 12477932;14702039;15489334;17604280;19549727;19724895;19851296;20198315;20467438;21658281;21832049;23602568;24722188 162333 B3KVK0;G3V1Q5;J3KTK3;J3KTN9;J3QLJ2;J3QRH7;Q8NA82 ABBA01035337;ABBA01035338;ABBA01035339;ABBA01035340;ABBA01035341;ABBA01035342;AC005821;AC068512;AC080038;AI223162;AI262871;AK093076;AK097506;AK122947;AMYH02033765;AMYH02033766;AMYH02033767;AMYH02033768;AW138484;AW263642;AW473122;BC035021;BX105355;BX648705;CH471109;HC007264;HY007336;HY010920;KF456303;KF459572;NM_001100875;NM_001288779;NM_001288780;NM_152598;XM_005257095;XM_005257096;XM_005257097;XM_005257098;XM_005257100;XM_005257102;XM_005257103;XM_005257105;XM_005257106 AAH35021;BAC04044;BAC05079;BAG53812;CBH19437;EAW94337;EAW94338;EAW94339;EAW94340;NP_001094345;NP_001275708;NP_001275709;NP_689811;Q8NA82;XP_005257152;XP_005257153;XP_005257154;XP_005257155;XP_005257157;XP_005257159;XP_005257160;XP_005257162;XP_005257163 Hs.665663 1336388;1707504;1751441;5097846;7186460 AU048752;D17S794;SHGC-105257;SHGC-84552 FLJ35757;MARCH-X;RNF190 membrane-associated RING finger protein 10;membrane-associated RING-CH protein X;probable E3 ubiquitin-protein ligase MARCH10;ring finger protein 190 APPROVED protein-coding ENSG00000173838 HGNC:26655 08762 613337 VALIDATED 1353584 MARCH4 membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase MARCH4 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH4 reduces surface accumulation of several membrane glycoproteins by directing them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010] 2 2 2 q35 210889243 211003395 - 217122585 217236750 - 216257862 216372027 - 1580863;6480464 10718198;12477932;14722266;15489334;20870941;21151997;22683712;8619474;9110174 57574 Q9P2E8 AB037820;ABBA01062813;AC012513;AC069155;AC098820;AL353945;AMYH02005759;AW051292;BC048793;BC098448;CH471063;NM_020814;U79281 AAH48793;AAH98448;ACE87030;ACE87716;BAA92637;EAW70566;NP_065865;Q9P2E8 Hs.170388 1716801;1778328;1784330;2190107 99-5472;RH121695;SHGC-32061;SHGC-85201 MARCH-IV;MGC104908;RNF174 E3 ubiquitin-protein ligase MARCH4;OTTHUMP00000206781;RING finger protein 174;membrane-associated RING finger protein 4;membrane-associated RING-CH protein IV APPROVED protein-coding ENSG00000144583 HGNC:29269 16299 608208 VALIDATED 1354489 MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010] 4 4 4 q32.2 161777720 162636895 - 164445450 165305093 - 163524298 164383255 - 1580863;6480464;8554872 14702039;14722266;17540176;18305173;18389477;19117940;20379614;21490949;21757542;21896490;22508929;23264739;23300075;23400868;23606747;9847074 55016 A8K0Z6;B7Z739;D6REN1;D6RGC4;Q8TCQ1 ABBA01070272;ABBA01070273;ABBA01070274;ABBA01070275;ABBA01070276;ABBA01070277;ABBA01070278;ABBA01070279;AC079232;AC079240;AC092631;AC093788;AC098867;AC105250;AC108154;AC112247;AK000675;AK091335;AK289711;AK301408;AL713759;AMYH02010417;AMYH02010418;AMYH02010419;AMYH02010420;AMYH02010421;AMYH02010422;AMYH02010423;AMYH02010424;AMYH02010425;AV716666;AW118953;CH471056;NM_001166373;NM_017923;XM_006714247;XM_006714248 AAI48532;AAI53125;BAA91319;BAF82400;BAH13475;CAD28529;EAX04834;EAX04835;NP_001159845;NP_060393;Q8TCQ1;XP_006714310;XP_006714311 Hs.592804;Hs.608487 1335753;1644820;1644871;1651507;1651668;1653730;1672226;1675159;1678541;1695450;1705628;1711960;1714079;1722165;1725357;1726411;1729007;1749207;1755483;1756051;1761189;1763711;1764327;1768764;1784980;1790295;2123021;2127925;2130180;2132872;2146357;2156064;2164807;2169142;2174408;2174517 074ZH11;1026;A008U27;D4S1378;D4S2332;D4S2398;D4S2834;D4S3086;D4S3090;D4S866;G33654;G34235;G41991;G60133;G62506;Hspa5;KS702;RH118423;RH118996;RH119644;RH12318;RH93599;SHGC-110883;SHGC-112118;SHGC-142348;SHGC-142859;SHGC-145201;SHGC-147381;SHGC-147934;SHGC-32105;SHGC-57357;SHGC-68564;SHGC-83381;STS-M78266;STS-Z41099;WI-19849 DKFZp564M1682;FLJ20668;MARCH-I;RNF171 E3 ubiquitin-protein ligase MARCH1;OTTHUMP00000220027;OTTHUMP00000220028;OTTHUMP00000220029;OTTHUMP00000220284;RING finger protein 171;membrane-associated RING finger protein 1;membrane-associated RING-CH protein I APPROVED protein-coding ENSG00000145416 HGNC:26077 07940 613331 VALIDATED 1346314 MARCH5 membrane-associated ring finger (C3HC4) 5 MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008] 10 10 10 q23.32-q23.33 87795448 87858230 + 94050920 94113721 + 92291163 92353964 + 737633;6480464;8554872 12477932 14702039;14722266;15164054;15489334;16874301;16936636;17606867;18781797;19549727;19741096;19946888;20103533;20682791;20851218;21139048;21625535;21890473;21906983;21987572;22308378;22505724;23253261;23503661;23727017;24722297 54708 B4DGV8;Q9NX47 AB191202;ABBA01021911;ABBA01021912;ABBA01021913;ABBA01021914;AK000452;AK294799;AK309175;AL158040;AL161652;AMYH02023533;BC015480;BE393612;CH471066;NM_017824;XM_005269923 AAH15480;ADZ16088;BAA91173;BAF02285;BAG57919;EAW50094;EAW50095;EAW50096;NP_060294;Q9NX47;XP_005269980 Hs.573490 1337342;1655737;1736048;1857277 D10S1173;D10S1319E;D10S2384;WI-11025 FLJ20445;MARCH-V;RNF153 E3 ubiquitin-protein ligase MARCH5;MITOL;OTTHUMP00000020096;membrane-associated RING finger protein 5;membrane-associated RING-CH protein V;mitochondrial ubiquitin ligase;ring finger protein 153 APPROVED protein-coding ENSG00000198060 HGNC:26025 07909 610637 VALIDATED 1351107 MARCH2 membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010] 19 19 19 p13.2 8334842 8361884 + 8478187 8503901 + 8413303 8439017 + 6480464 11042152;12477932;14722266;15146197;15489334;15689499;16428329;16751776;17192395;17980554;19322201;23166351;23818989;8619474;9110174 51257 M0QXU4;M0R0S4;M0R138;M0R1P2;Q9P0N8 AB197929;ABBA01010843;ABBA01010844;ABBA01010845;ABBA01010846;AC136469;AF151074;AK130163;AMYH02035442;AMYH02035443;AMYH02035444;BC015910;BC032624;BC111388;BI546028;CH471139;CN363445;DQ582066;NM_001005415;NM_001005416;NM_016496;XM_006722762;XM_006722763 AAF36160;AAH15910;AAH32624;AAI11389;BAD89359;EAW68924;NP_001005415;NP_001005416;NP_057580;Q9P0N8;XP_006722825;XP_006722826 Hs.631861 1769476;2109495;2131415;5022576 D1S1361;MARCH-_II_9691;RH47612;STS-N27628 HSPC240;MARCH-II;RNF172 E3 ubiquitin-protein ligase MARCH2;RING finger protein 172;membrane-associated RING finger protein 2;membrane-associated RING-CH protein II APPROVED protein-coding ENSG00000099785 HGNC:28038 14361 613332 VALIDATED 1351043 MARCH9 membrane-associated ring finger (C3HC4) 9 MARCH9 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH9 induces internalization of several membrane glycoproteins and directs them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Hoer et al., 2007 [PubMed 17174307]).[supplied by OMIM, Apr 2010] 12 12 12 q14.1 57806495 57811284 + 58148881 58154193 + 57755098 57760410 + 737633;1580863;6480464 12477932 14702039;14722266;15489334;17174307;19913121;20467438;20628086;20870941;22939624 92979 Q86YJ5;Q8N9T1 ABBA01026694;AC025165;AK093897;AK313925;AMYH02026593;BC009489;BC036455;BC050397;CH471054;NM_138396 AAH09489;AAH36455;AAH50397;BAC04247;BAG36646;EAW97063;EAW97064;EAW97065;NP_612405;Q86YJ5 Hs.632709 1677544;1696912 RH101924;RH80928 FLJ36578;MARCH-IX;RNF179 E3 ubiquitin-protein ligase MARCH9;OTTHUMP00000243862;RING finger protein 179;membrane-associated RING finger protein 9;membrane-associated RING-CH protein IX APPROVED protein-coding ENSG00000139266 HGNC:25139 14360 613336 VALIDATED 1352052 MARCKSL1 MARCKS-like 1 This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. Members of this family play a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junction. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on the long arm of chromosomes 6 and 10. [provided by RefSeq, Jun 2012] 1 1 1 p35.1 31069907 31072301 - 32799430 32801840 - 32333829 32336239 - 6480464;6907045 10827182;11076863;11230166;11256614;12477932;15345747;15489334;15489336;16381901;16429158;16710414;17081983;17110338;17292354;17897642;1864362;19246034;19322201;19924305;21139048;21319273;21890473;21906983;22751924;22772381;22939629;23000965;23398456;23602568;24244333;24654937;8132675;8619474;9110174;9598313 65108 P49006 ABBA01023429;ABBA01023430;AF031640;AI879076;AL109945;AL713653;AMYH02000710;AY007131;AY293577;BC007904;BC066915;CH471059;DT218825;L76376;N70661;NM_023009;NR_052852;X70326 AAH07904;AAH66915;AAP37955;ABM84163;ABM87566;CAA49793;CAD28462;CAL38382;EAX07537;EAX07538;EAX07539;NP_075385;P49006 Hs.75061 1681183;1729173;1745987;2135303;2168953;5491895 Marcksl1;RH125343;RH70887;RH77985;SHGC-11999;WI-8367 F52;MLP;MLP1;MRP MACMARCKS;MARCKS-like protein 1;MARCKS-related protein;OTTHUMP00000008870;mac-MARCKS;macrophage myristoylated alanine-rich C kinase substrate APPROVED protein-coding ENSG00000175130 HGNC:7142 04247 602940 REVIEWED 7241967 MARCKSL1P1 MARCKS-like 1 pseudogene 1 10 10 104935130 104936835 + 103175373 103177078 + 100913183 ABBA01063119;AL360001;AMYH02023721;NG_032812 pseudo HGNC:45239 INFERRED 1603971 MARCH7 membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010] 2 2 2 q24.2 154180871 154236930 + 160568980 160625084 + 159712457 159768583 + 6480464 12477932;14702039;14722266;15489334;15670816;15815621;16344560;16713569;16868077;17161353;18410486;18654987;19549727;19901269;21139048;21906983;21963094;21987572;22493164;22544753;23105109;24905733;8125298 64844 B7Z5K0;B7ZAR7;C9J159;F5H6W4;H7BZU7;Q9H992 ABBA01004867;ABBA01004868;AC009961;AI863394;AK022973;AK124225;AK222880;AK292836;AK299051;AK302347;AK310238;AK316382;AL050171;AL597638;AL833651;AMYH02005074;AMYH02005075;AMYH02005076;AMYH02005077;AX882469;BC003404;BC065014;BI462287;CH471058;CR627026;DA825046;NM_001282805;NM_001282806;NM_001282807;NM_022826;XM_005246773;XM_005246774;XR_427106 AAH03404;AAH65014;AAY14941;BAB14340;BAD96600;BAF85525;BAH12936;BAH13681;BAH14753;CAE91593;EAX11401;EAX11402;NP_001269734;NP_001269735;NP_001269736;NP_073737;Q9H992;XP_005246830;XP_005246831 Hs.529272 1734996;1797310;2117281;2125281;2138180;2138182;2154154;2170991 A005L03;A007L02;AXOT_710;D2S1731E;G20298;RH69485;RH70502;RH77955 AXO;AXOT;DKFZp586F1122;MARCH-VII;RNF177 E3 ubiquitin-protein ligase MARCH7;OTTHUMP00000162900;OTTHUMP00000204988;OTTHUMP00000204989;RING finger protein 177;axotrophin;membrane-associated RING finger protein 7;membrane-associated RING-CH protein VII APPROVED protein-coding ENSG00000136536 HGNC:17393 09817 613334 VALIDATED 1343716 MARCH6 membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 5 5 5 p15.2 10391947 10473622 + 10353751 10440500 + 10353639 10440388 + 737633;1580863;6480464;6907045;8554872 12477932 11641273;14702039;14722266;15215312;15489334;15673284;16196087;16344560;16373356;18798335;19103148;19322201;19651899;19946888;21139048;21679772;21890473;21906983;21963094;21987572;22446040;22505724;23000965;24449766;24811749;24840124;25074266;25088257;9049630;9628581 10299 D6RHY7;O60337 AB011169;ABBA01020600;ABBA01020601;AC012640;AC092336;AF009301;AF056433;AK000970;AK056198;AK296585;AK299339;AK300034;AK314686;AL080234;AMYH02010847;AMYH02010848;AMYH02010849;AMYH02010850;BC013761;BC039293;BC046148;BC111494;BC136461;BC136462;BC142679;BC142694;BX116291;CH471102;CQ834252;DB072938;NM_001270660;NM_001270661;NM_005885;U52827 AAB66840;AAH46148;AAI36462;AAI36463;AAI42680;AAI42695;BAA25523;BAG37238;BAG50840;BAG59204;BAG61341;BAG61845;CAH05341;EAX08065;EAX08066;EAX08067;NP_001257589;NP_001257590;NP_005876;O60337 Hs.432862 1647113;1648744;1648889;1669244;1680707;1689237;1708296;1726805;1761365;1769145;1857636;2114504;2117110;2121351;2129273;2145601;2149394;2153586;2157686;2157688;2172519 A001X45;D5S1598E;D5S1645E;D5S1646E;D5S1654E;D5S438E;G19766;G62792;RH12605;RH27917;RH35927;RH68720;RH92217;SGC35190;SHGC-145385;SHGC-37071;SHGC-79719;WI-11573;WI-17007;WI-22102;WIAF-1507 DOA10;KIAA0597;MARCH-VI;RNF176;TEB4 E3 ubiquitin-protein ligase MARCH6;OTTHUMP00000221092;OTTHUMP00000221093;OTTHUMP00000221094;RING finger protein 176;doa10 homolog;membrane-associated RING finger protein 6;membrane-associated RING-CH finger protein 6;membrane-associated RING-CH protein VI;protein TEB-4 APPROVED protein-coding ENSG00000145495 HGNC:30550 11095 613297 REVIEWED 7241966 MARCKSL1P2 MARCKS-like 1 pseudogene 2 6 6 138722976 138724783 - 138401839 138403646 - 100913182 ABBA01025809;AL031003;AMYH02014579;NG_032810 pseudo HGNC:45240 INFERRED 1347759 MARCKSP1 myristoylated alanine-rich protein kinase C substrate pseudogene 1 21 21 21 q21.3 12783306 12791654 - 27599849 27608197 - 26227530 26235878 - 10830953;11950773;12140758;1427823 4083 ABBA01057218;ABBA01057219;AMYH02037659;AP000230;NG_007487 1681372;2116303;2116305 D9S2085;RH69166;WI-18735 MACSL1 APPROVED pseudo HGNC:6760 INFERRED 1349062 MARCO macrophage receptor with collagenous structure The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008] 2 2 2 q14.2 113024535 113078253 + 119699745 119752236 + 118942169 118994660 + 1580863;6480464;8554872 10331948;10651831;11315932;11820786;12097327;12444143;12477932;12847263;15489334;16237101;16335952;19240061;19403625;20237496;20810988;21299846;21886847;21986627;22470185;22470186;23154236;23249958;23617307;23739639;7867067;9468508 8685 C9JKT8;Q4ZG40;Q9UEW3 ABBA01045933;ABBA01045934;ABBA01045935;AC013457;AF035819;AF128186;AK297030;AK301407;AK313139;AMYH02004643;BC016004;CB529479;CH471103;KF456701;NM_006770 AAC08800;AAD41064;AAH16004;AAX88875;ABM83749;ABM83759;ABM87079;BAG35958;BAG59558;BAG62941;EAW95207;NP_006761;Q9UEW3 Hs.67726 1335957;2126344 D2S1251;RH46911 SCARA2 OTTHUMP00000162090;OTTHUMP00000203591;macrophage receptor MARCO;scavenger receptor class A member 2;scavenger receptor class A, member 2 APPROVED protein-coding ENSG00000019169 HGNC:6895 05337 604870 REVIEWED 5130576 MARK2P1 MAP/microtubule affinity-regulating kinase 2 pseudogene 1 3 3 3 9831889 9832516 + 9896589 9897216 + 9854905 9855532 + 100421501 ABBA01020398;AC018809;AMYH02006237;NG_025672 pseudo HGNC:39792 INFERRED 1353860 MARCH8 membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010] 10 10 10 q11.21 41950772 42088280 - 45950033 46090354 - 45454585 45594906 - 6480464;8554872 12477932;12582153;14550572;14702039;14722266;15164054;15489334;16385451;16751776;18096478;19117940;19862010;20139978;20379614;21151997;21752829;21757542;22082156;22904187;23170932;23222517;23300075;23400868;23606747;24097068 220972 Q5T0T0 AA418494;ABBA01050027;ABBA01050028;ABBA01050029;ABBA01050030;ABBA01050031;ABBA01050032;AK023636;AK025472;AK057289;AK125414;AK307667;AK313340;AL445201;AL512595;AL731567;AL833316;AMYH02022735;BC025394;BC066988;BF195460;BG433948;BG717635;BM151615;BM906478;CH471160;DQ588226;DQ595937;DQ599376;HY047787;NM_001002266;NM_001282866;NM_145021;XM_005271804;XM_006717704;XM_006717705;XR_246519 AAH25394;AAH66988;BAG36144;EAW86644;EAW86645;EAW86646;EAW86647;EAW86648;EAW86649;EAW86650;EAW86651;EAW86652;NP_001002266;NP_001269795;NP_659458;Q5T0T0;XP_005271861;XP_006717767;XP_006717768 Hs.499489 1657915;1670368;1680847;1684431;1688732;1689464;1698134;1710936;1772232;2184616 A008O14;RH102600;RH66569;RH68855;RH68975;RH70123;RH92176;SGC30405;SHGC-13143;SHGC-84440 MARCH-VIII;MIR;RNF178;c-MIR E3 ubiquitin-protein ligase MARCH8;OTTHUMP00000020830;OTTHUMP00000020832;RING finger protein 178;c-mir, cellular modulator of immune recognition;cellular modulator of immune recognition (c-MIR);membrane-associated RING finger protein 8;membrane-associated RING-CH protein VIII APPROVED protein-coding ENSG00000165406 HGNC:23356 17466 613335 VALIDATED 5130473 MARK2P10 MAP/microtubule affinity-regulating kinase 2 pseudogene 10 7 7 7 q21.3 91181425 91182932 + 96487476 96488983 + 96858164 96859671 + 12690205 402679 ABBA01045760;AC092595;AMYH02016313;CH236949;NG_023195 EAL24124 1334903;1336377;1337384;1724903;1778109;1854845;2165065;2187080;7186174 A004Q32;AFM284ZC1;D7S1796;D7S491;D7S624;RH119216;RH47418;WI-21635 pseudo HGNC:39801 INFERRED 735485 MARCKS myristoylated alanine-rich protein kinase C substrate The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. [provided by RefSeq, Jul 2008] 6 6 6 q22.2 114919922 114926047 + 114178527 114184652 + 113857348 113863475 + 1580863;6480464 10359664;10734119;11327693;11533058;11825894;11930178;12477932;12577052;1396720;1427823;14506265;14574404;14702039;15146197;15239673;15345747;15489334;1560845;15623535;15889447;16677610;16941482;17081983;17292354;17456004;18055557;18314541;18329017;18457437;1860846;18781797;18940893;19056867;19135240;19302977;19322201;19475567;19574534;19773446;19924305;20047593;20203291;21139048;21448919;21763456;21890473;21906983;22053931;22304920;22555845;22710197;22773836;22779921;22810585;22863883;22939629;23376641;23377348;23443559;23704996;23876235;24240590;24244333;24322204;2473066;24735036;7588787;8034575;8162705;8420923;8486722;8557118;8566422;8798548;9295331 4082 P29966;Q6NVI1 ABBA01026063;ABBA01026064;AI142997;AK027274;AK074526;AL132660;AMYH02014332;AW163148;BC013004;BC028284;BC039492;BC068059;BC089040;CH471051;CN345330;CS105042;D10522;DQ341274;FO393415;M68955;M68956;NM_002356 AAA59554;AAA59555;AAH13004;AAH28284;AAH68059;AAH89040;ABC67467;ACE86901;ACE87588;BAA01392;CAI19942;CAJ01280;EAW48258;EAW48259;NP_002347;P29966 Hs.519909;Hs.712658 1681372;1794578;2116303;2116305 D9S2085;PMC321570P10;RH69166;WI-18735 80K-L;FLJ14368;FLJ90045;MACS;PKCSL;PRKCSL OTTHUMP00000017045;myristoylated alanine rich protein kinase c substrate;myristoylated alanine-rich C-kinase substrate;myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L);phosphomyristin;protein kinase C substrate, 80 kDa protein, light chain APPROVED protein-coding ENSG00000277443 HGNC:6759 07519 177061 REVIEWED 5488960 MARK2P11 MAP/microtubule affinity-regulating kinase 2 pseudogene 11 5 5 157411652 157416992 - 157984644 157989984 - 100421484 ABBA01044257;AC008677;AMYH02012567;NG_024636 pseudo HGNC:39802 INFERRED 5130572 MARK2P12 MAP/microtubule affinity-regulating kinase 2 pseudogene 12 13 13 13 54880795 54881331 - 73981926 73982462 - 73407789 73408325 - 100421565 ABBA01050347;AL138964;AMYH02028266;NG_024868 pseudo HGNC:39803 INFERRED 6770541 MARK2P13 MAP/microtubule affinity-regulating kinase 2 pseudogene 13 7 7 36148634 36150482 - 36109024 36110872 - 100631260 ABBA01056899;AC078841;AMYH02015522;NG_029259 pseudo HGNC:39804 INFERRED 7256147 MARK2P15 MAP/microtubule affinity-regulating kinase 2 pseudogene 15 10 10 85072125 85074207 - 83312369 83314451 - 100533794 ABBA01003768;AL451146;AMYH02023442;NG_028751 pseudo HGNC:45119 INFERRED 7174997 MARK2P14 MAP/microtubule affinity-regulating kinase 2 pseudogene 14 3 3 11948046 11954903 + 11906572 11913429 + 100631261 ABBA01025211;AC090958;AMYH02006280;NG_029270 pseudo HGNC:44495 INFERRED 1344457 MARK2 MAP/microtubule affinity-regulating kinase 2 This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] 11 11 11 q13.1 60932277 61004686 + 63606400 63678492 + 63838928 63911020 + 6480464;6484113;8554872 10516437;11257119;11433294;12429843;12477932;14676191;14743216;14976552;15158914;15161933;15302935;15324659;15365179;15489334;15492257;15778465;16257959;16306228;16344560;16396636;16472737;16551573;16554811;16707567;16775013;16803889;16964243;16968750;16980613;17081983;17192257;17234589;17353931;17442826;17979178;18005242;18045904;18292230;18315603;18626018;18760999;19011111;19530321;19553522;19615732;19945424;19953087;20194617;20360068;20508642;21130132;21139048;21513698;21890473;22072711;22238344;22298430;22848487;22883624;23000965;23383273;23443559;24165937;24251416;24255178;24259665;24354359;24358023;24816145;7613050;8125298;8274451;8889548;8938448;9108484;9730619 2011 A8K2S4;E7ETY4;E9PC69;F5H4F6;F5H4J8;F5H6N2;F6UPU4;Q5DNC5;Q7KZI7 AB188493;AB271694;ABBA01003271;ABBA01003272;ABBA01003273;ABBA01003274;ABBA01003275;AF387638;AI524222;AK225766;AK290339;AK307858;AMYH02024920;AMYH02024921;AMYH02024922;AP003780;AP006289;AY562187;AY562188;BC008771;BC084540;BM719402;BM724555;BT007342;BX383836;CH471076;DA855402;NG_029771;NM_001039469;NM_001163296;NM_001163297;NM_004954;NM_017490;U73647;X97630;XM_006718441;XM_006718442;XM_006718443;XM_006718444;XM_006718445;XM_006718446;Z25427 AAH08771;AAH84540;AAK82368;AAP36006;AAT67601;AAT67602;ABM81619;ABM84802;BAD37141;BAF83028;BAF96440;CAA66229;CAA80914;EAW74174;EAW74175;EAW74176;EAW74177;EAW74178;EAW74179;EAW74180;NP_001034558;NP_001156768;NP_001156769;NP_004945;NP_059672;Q7KZI7;XP_006718504;XP_006718505;XP_006718506;XP_006718507;XP_006718508;XP_006718509 Hs.567261 1686606;1738221;1773386;2134087;2137629;2163528;5491280 D11S1226;D11S1227;D11S3862;D11S993;MARC_7553-7554:992008491:1;RH47044;STS-R39857 EMK-1;EMK1;MGC99619;PAR-1;Par-1b;Par1b ELKL motif kinase 1;OTTHUMP00000218338;OTTHUMP00000218339;OTTHUMP00000218340;OTTHUMP00000218343;OTTHUMP00000236749;OTTHUMP00000236750;OTTHUMP00000236758;OTTHUMP00000237224;PAR1 homolog;PAR1 homolog b;Ser/Thr protein kinase PAR-1B;serine/threonine protein kinase EMK;serine/threonine-protein kinase MARK2 APPROVED protein-coding ENSG00000072518 HGNC:3332 02753 600526 REVIEWED 7241608 MARK2P16 MAP/microtubule affinity-regulating kinase 2 pseudogene 16 10 10 91597302 91599091 - 89837545 89839334 - 100533795 ABBA01021943;AL157389;AMYH02023513;NG_028752 pseudo HGNC:45171 INFERRED 5130575 MARK2P2 MAP/microtubule affinity-regulating kinase 2 pseudogene 2 3 3 3 9989521 9990270 + 10054068 10054817 + 10012384 10013133 + 100421502 ABBA01020396;AC022007;AMYH02006243;NG_025674 pseudo HGNC:39793 INFERRED 8552162 MARK2P17 MAP/microtubule affinity-regulating kinase 2 pseudogene 17 3 3 3 126993853 126995468 - 128561596 128563211 - 128842753 128844368 - 100421499 ABBA01020915;AC023598;AMYH02007628;NG_025622 pseudo HGNC:50318 INFERRED 5130574 MARK2P3 MAP/microtubule affinity-regulating kinase 2 pseudogene 3 3 3 3 127484579 127485354 + 129053373 129054148 + 129334530 129335305 + 100421507 ABBA01020935;AC137695;AMYH02007639;NG_025740 pseudo HGNC:39794 INFERRED 5130579 MARK2P4 MAP/microtubule affinity-regulating kinase 2 pseudogene 4 4 4 4 174261352 174263848 - 176933179 176935675 - 176012028 176014524 - 100421496 ABBA01070409;AC110794;AMYH02010550;NG_025187 1726307 G62454 pseudo HGNC:39795 INFERRED 732241 MARK1 MAP/microtubule affinity-regulating kinase 1 ENCODES a protein that exhibits ATP binding; magnesium ion binding; phosphatidic acid binding; INVOLVED IN intracellular signal transduction; protein phosphorylation; cytoskeleton organization (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN plasma membrane; cytoplasm (ortholog); cytoskeleton (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; arsenite(3-); atrazine 1 1 1 q41 193920723 194057269 + 220701568 220837799 + 220528183 220664457 + 633320;1580863;6480464;8554872 9108484 10090741;10737616;10819331;12387894;12435421;12477932;14517247;14594945;14676191;14702039;14976552;15489334;15778465;16306228;16344560;16710414;16803889;17192257;18254724;18492799;18976975;19090997;19615732;20158304;20379614;21890473;21897333;21988832;22205951;22298430;23000965;23666762;24163370;24243102;24255178;24362629;24722188;7706316;7931292;8631898;8999860;9735171;9771888;9832145 4139 B4DIB3;Q9H051;Q9P0L2;X5D2M4 AB040910;ABBA01048073;ABBA01048074;ABBA01048075;ABBA01048076;AC096640;AF154845;AK027493;AK098103;AK295506;AK314614;AL512724;AL592406;AMYH02002732;BC068608;BC113869;BC114478;CA412112;CH471100;DB308514;KJ534879;KJ534880;KJ534881;KJ535089;NM_001286124;NM_001286126;NM_001286128;NM_001286129;NM_018650;XM_005273134;XM_006711326;XM_006711327 AAF72103;AAI13870;AAI14479;AHW56519;AHW56520;AHW56521;AHW56728;BAA96001;BAB55152;BAG58425;CAC21661;EAW93298;EAW93299;EAW93300;EAW93301;EAW93302;NP_001273053;NP_001273055;NP_001273057;NP_001273058;NP_061120;Q9P0L2;XP_005273191;XP_006711389;XP_006711390 Hs.497806 1656822;1769687;2107315 AL009560;D1S3598;MARK1__7373 KIAA1477;MARK;MGC126512;MGC126513;Par-1c;Par1c OTTHUMP00000035457;OTTHUMP00000035458;PAR1 homolog c;serine/threonine-protein kinase MARK1 protein-coding ENSG00000116141 HGNC:6896 07353 606511 VALIDATED 5130580 MARK2P5 MAP/microtubule affinity-regulating kinase 2 pseudogene 5 5 5 5 15408039 15408668 + 15384340 15384969 + 15384231 15384860 + 100421485 ABBA01020649;AC114964;AMYH02010904;NG_024655 pseudo HGNC:39796 INFERRED 5130577 MARK2P6 MAP/microtubule affinity-regulating kinase 2 pseudogene 6 3 3 3 127002720 127004108 - 128570463 128571851 - 128851620 128853008 - 100421500 ABBA01020915;AC023598;AMYH02007628;NG_025623 pseudo HGNC:39797 INFERRED 5130573 MARK2P7 MAP/microtubule affinity-regulating kinase 2 pseudogene 7 7 7 7 36171037 36172228 + 36186443 36187634 + 36146834 36148025 + 100421531 ABBA01056899;AC078841;AMYH02015522;CH236951;NG_026553 pseudo HGNC:39798 INFERRED 5130578 MARK2P8 MAP/microtubule affinity-regulating kinase 2 pseudogene 8 3 3 3 126899162 126900488 - 128466999 128468325 - 128748156 128749482 - 100421498 ABBA01020911;AC079945;AMYH02007627;NG_025620 pseudo HGNC:39799 INFERRED 736496 MAPT microtubule-associated protein tau This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008] 17 17 17 q21.1 40619037 40753014 + 43971702 44105700 + 45894336 46028334 + 1300048;1358432;1302530;1358431;1302532;1302531;1580863;6480464;6484113;6907045;7240710;8158094;8158096;8158105;8158108;8158106;8158107;8158113;8158095;8158112;8158097;8158098;8158093;8158100;8158099;8554872;8699517 11117542;11520987;15494405;15524282;15792962;16839689;17386961;18162161;18668363;18785640;19155101;19308965;19879020;22052241;22221882;22874558;22911817;23116876;9641683 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4137 B3KTM0;I3L170;I3L2Z2;P10636 AB073354;ABBA01031191;ABBA01031192;ABBA01031193;ABBA01031194;ABBA01031195;ABBA01031196;ABBA01031197;ABBA01031198;AC004139;AC010792;AC217771;AC217779;AC243621;AC243658;AF047863;AF456477;AK055986;AK095802;AK226139;AK299658;AK299704;AW161357;AW295014;AY526356;AY730549;BC000558;BC032572;BC040444;BC061892;BC071830;BC094805;BC098281;BC099721;BC101936;BC114504;BC114948;BI552187;BN000503;BT006772;BX544879;CH471233;CR936218;DN996935;DR002467;FJ429137;HI635311;J03778;JA078072;M25298;NG_007398;NM_001123066;NM_001123067;NM_001203251;NM_001203252;NM_005910;NM_016834;NM_016835;NM_016841;X14474;XM_005257362;XM_005257364;XM_005257365;XM_005257366;XM_005257367;XM_005257368;XM_005257369;XM_005257370;XM_005257371;XM_005257372;XM_005275647;XM_005275648;XM_006725265;XM_006725266;XM_006725267;XM_006725268;XM_006725269;XM_006725270;XM_006725271;XM_006725272;XM_006725273;XM_006725274;XM_006725275;XM_006725616;XM_006725617;XM_006725618;XM_006725619;XM_006725620;XM_006725621;XM_006725622;XM_006725623;XM_006725624;XM_006725625 AAA57264;AAA60615;AAC04277;AAC04278;AAC04279;AAH00558;AAH98281;AAH99721;AAI01937;AAI14505;AAI14949;AAP35418;AAS17881;AAU45390;ACJ54951;BAB71065;BAG53132;BAG61575;BAG61605;CAA32636;CAG26750;CBX55119;CCA63951;EAW93565;EAW93566;EAW93567;EAW93568;EAW93569;EAW93570;EAW93571;EAW93572;EAW93573;EAW93574;NP_001116538;NP_001116539;NP_001190180;NP_001190181;NP_005901;NP_058518;NP_058519;NP_058525;P10636;XP_005257419;XP_005257421;XP_005257422;XP_005257423;XP_005257424;XP_005257425;XP_005257426;XP_005257427;XP_005257428;XP_005257429;XP_005275704;XP_005275705;XP_006725328;XP_006725329;XP_006725330;XP_006725331;XP_006725332;XP_006725333;XP_006725334;XP_006725335;XP_006725336;XP_006725337;XP_006725338;XP_006725679;XP_006725680;XP_006725681;XP_006725682;XP_006725683;XP_006725684;XP_006725685;XP_006725686;XP_006725687;XP_006725688 Hs.101174 1648287;1716699;1727285;1734506;1793588;1848771;1849985;1849987;1850453;2116707;2118824;2134720;2149964;2154791;2177685;5024417;5093642 A001X18;A007F48;A009U15;D17S1383E;D17S1451E;D17S2046;G19745;G32838;G63048;PMC23724P1;RH11914;RH121608;RH17756;RH44969;RH47296;STS-H17335;WI-16913 DDPAC;FLJ31424;FTDP-17;MAPTL;MGC138549;MSTD;MTBT1;MTBT2;PPND;PPP1R103;TAU G protein beta1/gamma2 subunit-interacting factor 1;OTTHUMP00000239567;OTTHUMP00000239568;OTTHUMP00000239569;OTTHUMP00000239570;OTTHUMP00000239571;PHF-tau;microtubule-associated protein tau, isoform 4;neurofibrillary tangle protein;paired helical filament-tau APPROVED protein-coding ENSG00000186868 HGNC:6893 01142 157140;168600;172700;260540;600274;601104 REVIEWED 5130474 MARK2P9 MAP/microtubule affinity-regulating kinase 2 pseudogene 9 10 10 10 q23.33 87920822 87921853 - 94178418 94179363 + 92418661 92419606 + 14702039 100507674 ABBA01021909;AL161652;AMYH02023538;DB460108;NR_038243 Hs.568772;Hs.742186 1758533 SHGC-148647 FLJ42127 pseudo HGNC:39800 VALIDATED 8552023 MARK3P1 MAP/microtubule affinity-regulating kinase 3 pseudogene 1 12 12 12 45872816 45873559 - 47075774 47076517 - 46681991 46682734 - 100421550 ABBA01031460;AC008014;AMYH02026409;NG_024005 pseudo HGNC:50312 INFERRED 8552134 MARK3P2 MAP/microtubule affinity-regulating kinase 3 pseudogene 2 3 3 3 12837102 12838474 + 12898813 12900185 + 12857314 12858686 + 100421503 ABBA01025188;AC034198;AMYH02006302;NG_025676 pseudo HGNC:50313 INFERRED 1353944 MARVELD1 MARVEL domain containing 1 FOUND IN cytoplasm (inferred); cytoskeleton (inferred); integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; atrazine; cobalt dichloride 10 10 10 q24.2 93210735 93215179 + 99473465 99477909 + 97713708 97718152 + 737633;1580863;6480464 12477932 15164054;15489334;19364627;21139048;22320884;24055813;8889548 83742 Q9BSK0 ABBA01021790;AF325259;AI347102;AK025996;AK027093;AL355315;AMYH02023612;BC004995;BC062544;CF125014;CH471066;NM_031484 EAW49903;NP_113672;Q9BSK0 Hs.744073 1644943;1653371;1680623;2116714 D10S1320E;RH17810;RH25179;RH64896 FLJ22343;FLJ23440;GB14;MARVD1;MGC4415;MRVLDC1;RP11-548K23.8;bA548K23.8 MARVEL (membrane-associating) domain containing 1;MARVEL domain-containing protein 1;OTTHUMP00000236949;putative MARVEL domain-containing protein 1 protein-coding ENSG00000155254 HGNC:28674 14364 VALIDATED 8551958 MARK3P3 MAP/microtubule affinity-regulating kinase 3 pseudogene 3 3 3 128566536 128568254 - 128847693 128849411 - 100533754 ABBA01020915;AC023598;AMYH02007628;NG_028736 pseudo HGNC:50314 INFERRED 1345417 MARVELD2 MARVEL domain containing 2 The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 5 5 5 q13.2 65713884 65740393 + 68710939 68738701 + 69415112 69442874 + 737633;1580863;6480464;7240710;8699517;8554872 12477932 10409428;14702039;15489334;15538632;15951569;16365161;17081983;17186462;18084694;19322201;19535456;19538290;19915590;20033365;20164257;20301607;20533305;21480761;21624353;21868126;21890473;21906983;22097895;22394074;23073616;23239027;23250572 153562 A1BQX2;D6RA09;D6RAH8;Q8N4S9 AB219936;AB219937;ABBA01048273;AC144587;AC145145;AC145146;AK055094;AK292962;AMYH02011475;AMYH02011476;BC033689;BG943115;CH471137;DQ682656;DQ682657;DQ682658;NG_017201;NM_001038603;NM_001244734;XM_005248445;XM_005248446;XM_005248447;XM_005276757;XM_005276758;XM_005276760 AAH33689;ABG89104;ABG89105;ABG89106;BAB70853;BAE54513;BAE54514;BAF85651;EAW51277;EAW51278;NP_001033692;NP_001231663;Q8N4S9;XP_005248502;XP_005248503;XP_005248504;XP_005276814;XP_005276815;XP_005276817 Hs.657687 1657815;1678697;1691348;1796644;2219948;5022450;5024761;5037552;5093318 A009L22;D10S275;D8S2279;G32648;G41776;MRVLDC2__6159;RAD17_783;RH36905;RH98911 DFNB49;FLJ30532;MARVD2;MRVLDC2;Tric MARVEL (membrane-associating) domain containing 2;MARVEL domain-containing protein 2;OTTHUMP00000222223;OTTHUMP00000222224;OTTHUMP00000222225;OTTHUMP00000222345;tricellulin APPROVED protein-coding ENSG00000152939 HGNC:26401 11293 610153;610572 REVIEWED 1347121 MARVELD3 MARVEL domain containing 3 INVOLVED IN cell-cell junction organization; tight junction assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic vesicle; tight junction; INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; trichostatin A 16 16 16 q22.2 55976129 55991929 + 71660056 71675868 + 71626153 71641965 + 1580863;6480464;8554872 12477932;14702039;15146197;15342556;15489334;15616553;16341674;17207965;20028514;20164257;21763689;21906983;22895189;23203797;24567356 91862 H3BQK1;J3KSM2;Q96A59 AA568498;ABBA01016779;ABBA01016780;AC009097;AI420156;AK056842;AK292185;AK307585;AMYH02032320;AMYH02032321;BC005052;BC011893;BC013376;BM742281;BP320419;BX109314;BX348391;CH471166;CN277354;CN311659;CR740484;HI574246;HI574248;NM_001017967;NM_001271329;NM_052858 AAH05052;AAH11893;AAH13376;ADQ31751;BAB71294;BAF84874;CBX47612;CBX47613;EAW59227;EAW59228;EAW59229;NP_001017967;NP_001258258;NP_443090;Q96A59 Hs.513706 2107413;5020881;5022450;5037552 D10S275;D8S2279;L17709;MRVLDC3__7189 FLJ32280;MARVD3;MRVLDC3 MARVEL (membrane-associating) domain containing 3;MARVEL domain-containing protein 3;OTTHUMP00000174924;OTTHUMP00000174925 protein-coding ENSG00000140832 HGNC:30525 14365 614094 VALIDATED 1349073 MARS2 methionyl-tRNA synthetase 2, mitochondrial This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014] 2 2 2 q33.1 192325854 192328884 + 198570028 198573114 + 197705304 197708390 + 1580863;6480464;6907045;7240710;8554872;8699517 12477932;14702039;15274629;15489334;15779907;15815621;20877624;21832049;22448145;24250222 92935 B4DVV7;Q96GW9 AB107013;ABBA01062490;AC073058;AK098121;AK301252;AMYH02005523;BC009115;BC026361;BC040934;BC126294;CH471063;DC342319;NG_034122;NM_138395 AAH09115;AAH40934;AAI26295;AAX93244;ADR83080;BAC05238;BAC92749;BAG62819;EAW70170;NP_612404;Q96GW9 Hs.744330 1678293;1701184;2107425;2125660 MetRS__7391;RH104220;RH94003;SHGC-52872 MetRS;SPAX3;mtMetRS OTTHUMP00000205806;methionine tRNA ligase 2, mitochondrial;methionine--tRNA ligase 2;methionine--tRNA ligase, mitochondrial;methionine-tRNA ligase;methionine-tRNA synthetase 2 (mitochondrial);methionine-tRNA synthetase 2, mitochondrial;methionyl-tRNA synthetase 2;methionyl-tRNA synthetase, mitochondrial;mitochondrial methionine--tRNA ligase;mitochondrial methionyl-tRNA synthetase protein-coding ENSG00000247626 HGNC:25133 14363 609728;611390 REVIEWED 2292062 MAS1LP1 MAS1L pseudogene 1 6 6 6 p22.1 31048846 31049892 - 29442802 29443848 - 29475025 29476071 - 19851445 646366 ABBA01038032;AL645927;AL662869;AMYH02013412;BX000531;BX247947;BX927133;CR388393;CR759768;CR759956;NG_009738 2220056 D6S2770 MAS1LP APPROVED pseudo HGNC:33448 INFERRED 1353156 MARK3 MAP/microtubule affinity-regulating kinase 3 The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 14 14 14 q32.32 83905890 84024379 + 103851701 103970168 + 103385364 103503831 + 1580863;6480464;8554872 10557092;11333986;11433294;11551930;11741534;12477932;12556533;12879020;12941695;14594945;14676191;14760703;15161933;15182702;15319445;15324660;15489334;15778465;16169070;16189514;16306228;16344560;16968750;16980613;17192257;17353931;17672918;17726107;17979178;18254724;18626018;19079262;19615732;20058232;20214879;20508642;20534768;20554715;20642453;20811636;21139048;21890473;22053931;22298430;22504420;23000965;23666762;23894155;24255178;24816145;25015289;8816492;9278512;9533022;9543386 4140 A2SY06;H0YIY6;H0YKJ3;H0YKP9;H0YNV4;J3KNR0;P27448;Q86U11 AB209542;ABBA01048425;ABBA01048426;ABBA01048427;ABBA01048428;ABBA01048429;AF170723;AF387637;AF465413;AK124459;AK296643;AK307448;AL133367;AMYH02029922;AMYH02029923;AMYH02029924;AMYH02029925;BC024773;BX161395;BX248250;CH471061;DA707357;DQ368336;KF456011;M80359;M83780;NG_030339;NM_001128918;NM_001128919;NM_001128920;NM_001128921;NM_002376;U64205;XM_005267641;XM_005267642;XM_005267643;XM_006720146;XM_006720147 AAA59991;AAC15093;AAD51631;AAH24773;AAK82367;AAL69982;ABD15137;ABM82641;ABM85818;BAD92779;BAG59243;CAD61882;CAD62578;EAW81812;EAW81813;EAW81814;EAW81815;EAW81816;EAW81817;EAW81818;EAW81819;NP_001122390;NP_001122391;NP_001122392;NP_001122393;NP_002367;P27448;XP_005267698;XP_005267699;XP_005267700;XP_006720209;XP_006720210 Hs.35828 1645199;1653552;1667711;1693702;1715991;2108239;2117960;2122256;2125410;2134120;2150692;2163919;2182155;2184111;5014063;5022450;5110882 D10S275;D14S1227;D15S1390;G29162;G35351;G35449;G35520;G35569;G35659;G35891;MARK3_8460;RH122738;RH1619;RH69189;RH70198;RH70390;SHGC-58619 C-TAK1;CTAK1;EMK-2;KP78;PAR1A;Par-1a ELKL motif kinase 2;OTTHUMP00000246863;OTTHUMP00000246864;OTTHUMP00000246865;OTTHUMP00000246866;OTTHUMP00000246867;OTTHUMP00000246868;cdc25C-associated protein kinase 1;protein kinase STK10;ser/Thr protein kinase PAR-1;serine/threonine-protein kinase p78 APPROVED protein-coding ENSG00000075413 HGNC:6897 04058 602678 REVIEWED 1351772 MAS1L MAS1 proto-oncogene like, G protein-coupled receptor ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 6 6 6 p22.1 31060587 31061723 - 29454543 29455679 - 29486766 29487902 - 1580863;6480464;8554872 11551509;12477932;14574404;15489334;1723144;18029348;18636314;19851445 116511 P35410;Q502V9;W8W3J1 ABBA01038032;AL035542;AL645927;AL662869;AMYH02013412;BC069127;BC069345;BC095511;BC101176;BC101177;BX000531;BX247947;BX927133;CH471081;CR388393;CR759768;CR759956;NM_052967;S78653 AAB21255;AAH69127;AAH69345;AAH95511;AAI01177;AAI01178;CAB44503;EAX03197;NP_443199;P35410 Hs.533297 1654535;5493965 RH70224;UniSTS:480553 MAS-L;MAS-R;MGC119987;MRG;dJ994E9.2 MAS1 oncogene-like;MAS1-like;OTTHUMP00000029101;mas-related G protein-coupled MRG;mas-related G-protein coupled receptor MRG APPROVED protein-coding ENSG00000204687 HGNC:13961 06251 607235 PROVISIONAL 1342525 MASP1P1 mannan-binding lectin serine peptidase 1 pseudogene 1 p34 10475605;12601245 246050 AB036334;NG_002640 mannan-binding lectin serine protease 1 pseudogene 1 pseudo HGNC:18574 1313280 MARS methionyl-tRNA synthetase This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011] 12 12 12 q13.3 57535658 57566266 + 57881736 57910438 + 57487953 57516655 + 1580863;6480464;6907045;8554872 10200289;10448063;10791971;10913161;11714285;11732605;12477932;12729910;14702039;15489334;16055448;16169070;16196087;16344560;17314511;17353931;18029348;19064003;19064571;19460752;19738201;19913121;19946888;20305087;20473970;20628086;20877624;21081666;21139048;21145461;21252943;21890473;21900206;21906983;21963094;21988832;22106287;22190034;22268729;22505724;22623428;22863883;22939629;23000965;23729695;23956138;24103465;24457600;24482476;25027693;6585969;8052601;8078941;8125298;8188258;8449960;8921912;9278442;9878398 4141 F5H2V6;F8VPL7;F8VS26;F8VZZ9;F8W0M7;F8W0S4;H0YHL6;H0YHV5;H0YI27;H0YI94;H0YIC2;H0YIP0;P56192 ABBA01026699;ABBA01026700;AC022506;AK092986;AK122956;AK222767;AK290857;AK293945;AK303349;AMYH02026584;AMYH02026585;AMYH02026586;BC002384;BC006328;BC011639;BC011849;BC015011;BC065187;BT007338;CH471054;D84224;DA489707;HH961788;NG_034077;NM_004990;X94754;XM_006719398;Z49216 AAH02384;AAH06328;AAH11639;AAH11849;AAH15011;AAP36002;BAA95668;BAC04011;BAD96487;BAF83546;BAG53819;BAG57322;BAG64411;CAA64381;CAA89153;CBX51367;EAW97019;EAW97020;NP_004981;P56192;XP_006719461 Hs.632707 1655432;1769907;1792408;1792876;2183069 D12S1943;PMC150726P8;PMC166200P1;RH17412;RH17902 FLJ35667;METRS;MRS;MTRNS;SPG70 OTTHUMP00000242692;OTTHUMP00000242693;cytosolic methionyl-tRNA synthetase;methionine tRNA ligase 1, cytoplasmic;methionine--tRNA ligase;methionine--tRNA ligase, cytoplasmic;methionyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000166986 HGNC:6898 08864 156560;615486 REVIEWED 1354102 MAST1 microtubule associated serine/threonine kinase 1 ENCODES a protein that exhibits ATP binding (ortholog); magnesium ion binding (ortholog); protein serine/threonine kinase activity (ortholog); INVOLVED IN cytoskeleton organization (ortholog); intracellular signal transduction (ortholog); protein phosphorylation (ortholog); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); plasma membrane (inferred); INTERACTS WITH 2-methylcholine; cyclosporin A; valproic acid 19 19 19 p13.2 12838964 12875474 + 12949259 12985766 + 12838445 12874952 + 1580863;6480464 10231032;10404183;11441184;12477932;12614677;15057824;15489334;15951562;16344560;17081983;20029029;21139048;21163940;22101766;8889548 22983 K7EJI7;K7EJZ9;K7EME4;Q9Y2H9 AB023190;ABBA01029764;ABBA01029765;ABBA01029766;ABBA01029767;ABBA01029768;ABBA01029769;AC020934;AD000092;AK297553;AMYH02035559;BC017485;BC026709;BC027985;BM681304;CH471106;DA769770;NM_014975;XM_005259820;XM_006722691 AAB51171;AAH27985;BAA76817;BAG59946;EAW84317;EAW84318;EAW84319;NP_055790;Q9Y2H9;XP_005259877;XP_006722754 Hs.227489 1335390;1705984;2148977 D2S2287;RH65998;SHGC-78625 KIAA0973;SAST;SAST170 microtubule-associated serine/threonine-protein kinase 1;syntrophin associated serine/threonine kinase;syntrophin-associated serine/threonine-protein kinase protein-coding ENSG00000105613 HGNC:19034 17469 612256 VALIDATED 731461 MAS1 MAS1 proto-oncogene, G protein-coupled receptor This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012] 6 6 6 q25.3-q26 160974252 160975386 + 160320218 160329339 + 159906942 159908076 + 1581849;1581931;1580863;737797;2313799;2316776;5129169;6480464;6907045;8549482;8549486 15687842;16520407;18679036;19793108;21040717;21963897;22120037;9565612 10785460;11967280;12477932;12829792;14574404;15123239;15489334;16611642;17207965;1725048;18636314;19164480;19240061;19461648;20361351;20592051;20674894;21316680;2197067;22003054;22048948;22164327;22319643;22510001;22518283;22518286;23459756;23488800;23592774;24128372;24168260;24583173;3329713;3419518;3708691;8661154 4142 P04201;W8W3P4 ABBA01021058;AL035691;AMYH02014875;BC069142;BC069581;BC110454;CH471051;CR542261;HG426065;M13150;NM_002377 AAA36199;AAH69142;AAH69581;AAI10455;ADQ32918;CAG47057;CDG86183;EAW47609;EAW47610;EAW47611;NP_002368;P04201 Hs.99900 1667719;1676166;1741571;2107321;5492441 GDB:181539;MAS1__7376;RH17660;RH93491;UniSTS:481078 MAS;MGC119966;MGRA MAS1 oncogene;Mas-related G protein-coupled receptor A;OTTHUMP00000017535;proto-oncogene Mas APPROVED protein-coding HGNC:6899 01306 165180 REVIEWED 1321076 MARK4 MAP/microtubule affinity-regulating kinase 4 This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 19 19 19 q13.3 42560416 42614109 + 45754516 45808541 + 45251258 45305283 + 633320;1580863;6480464;8554872 9108484 11326310;11347906;12477932;12735302;14594945;14676191;14702039;14976552;15009667;16169070;16306228;16344560;16959763;17192257;17924967;18254724;18482256;19019082;19245655;19615732;19759416;19953087;20460622;20634891;21906983;22156016;22506312;23184942;23400999;23666762 57787 K7EK17;K7EKG8;K7EN95;Q6IPE9;Q96L34 AB049127;AB058763;AB073663;AB088047;ABBA01040917;ABBA01040918;ABBA01040919;ABBA01040920;AC005581;AC005781;AC006126;AK027619;AK074578;AK075272;AMYH02036194;AMYH02036195;AY057448;AY120867;BC009049;BC071948;CH471126;CQ784017;DB100014;NM_001199867;NM_031417;XM_006723307 AAC33487;AAH09049;AAH71948;AAI66620;AAL23683;AAM55491;BAB39380;BAB47489;BAB55238;BAC03375;BAC11070;BAC11510;BAE45729;CAF86971;EAW57332;EAW57333;EAW57334;EAW57335;EAW57336;NP_001186796;NP_113605;Q96L34;XP_006723370 Hs.34314 1663034;1775062;1776843;1849792;2107317;2121974;2147308;2147310;2158867;2178512;5015619;5037552 A005Q13;D11S3114;D19S1005;D19S1105;D19S836;D8S2279;G20412;MARK4__7374;RH45702;RH46237;SGC30757;STS-H97748 FLJ12177;FLJ90097;KIAA1860;MARK4L;MARK4S;MARKL1;MARKL1L;Nbla00650;PAR-1D MAP/microtubule affinity-regulating kinase like 1;MAP/microtubule affinity-regulating kinase-like 1;MARK4 serine/threonine protein kinase;putative protein product of Nbla00650 APPROVED protein-coding ENSG00000007047 HGNC:13538 09402 606495 REVIEWED 733853 MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 3 3 3 q27-q28 185365700 185441644 - 186933873 187009810 - 187216085 187292022 - 1580863;6480464;6907045;8699517;8554872;7240710 10475605;10639434;10679061;10878362;10925294;10946292;11485744;11527969;11532276;11752456;11907111;12370377;12421953;12477932;12538697;12601245;12771190;16102832;16112196;16712791;17182967;17444953;17938215;18029348;18456010;18596036;18676680;18842294;19170196;19423540;19564340;19607727;19625176;19667088;19692168;19917686;19939495;20053996;20406964;20438785;20673767;20817870;21035106;21054788;21145461;21258343;21625439;21900206;22511776;22536427;22607836;22670777;22691502;22854970;22966085;23220946;23386610;23402018;23602568;23785123;23792966;23841802;23861840;23911397;24023860;24424083;24472859;24489848;24529757;24683193;7759119;8018603;8240317;8921412;9719152 5648 C9J1C7;C9JLU5;C9JMA2;F8W876;P48740 AB007617;ABBA01058375;ABBA01058376;AC007920;AF284421;AI278088;AI828640;AK129893;AK291157;AK291686;AK300663;AK304334;AL134380;AL137646;AL708781;AMYH02008359;AV686235;BC039724;BC106945;BC106946;BX641029;BX647237;CB162101;CH471052;CR749615;D61695;DC423174;KF457720;NG_029440;NM_001031849;NM_001879;NM_139125;NR_033519;XM_006713700;XM_006713701 AAH39724;AAI06946;AAI06947;AAK84071;BAA34864;BAA89206;BAF83846;BAF84375;BAG62349;BAG65179;CAB70856;CAE46018;CAH18409;CAI46037;EAW78150;EAW78151;EAW78152;EAW78153;NP_001027019;NP_001870;NP_624302;P48740;XP_006713763;XP_006713764 Hs.89983 1655276;1656252;1665544;1681638;1682844;1709508;1739309;1739823;1760839;1768403;1774243;1775705;1797852;2151392;2156961;2165778;2185530;5024761 D3S3302E;D3S3315;D3S3485E;G15960;MASP1_923.2;RH12357;RH12435;RH16233;RH36905;RH75422;RH93986;SHGC-144506;SHGC-34843;SHGC-77643;SHGC-81815;STS-D17525;WI-16893;WI-9292 3MC1;CRARF;CRARF1;DKFZp686I01199;FLJ26383;MAP1;MASP;MASP3;MAp44;MGC126283;MGC126284;PRSS5;RaRF OTTHUMP00000209926;OTTHUMP00000209927;OTTHUMP00000209928;OTTHUMP00000209929;OTTHUMP00000209930;Ra-reactive factor serine protease p100;complement factor MASP-3;complement-activating component of Ra-reactive factor;mannan-binding lectin serine protease 1;mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor);mannose-binding lectin-associated serine protease 1;mannose-binding protein associated serine protease-1;mannose-binding protein-associated serine protease;serine protease 5 APPROVED protein-coding ENSG00000127241 HGNC:6901 02749 257920;600521 REVIEWED 5133133 MAST4-AS1 MAST4 antisense RNA 1 5 5 63295834 63298169 - 66297446 66299781 - 100506600 XR_108604;XR_112739 1789613 KT3 APPROVED ncrna HGNC:40865 6481029 MAST4-IT1 MAST4 intronic transcript 1 (non-protein coding) q12.3 100874310 AC092349 ncrna HGNC:41448 1312089 MAST2 microtubule associated serine/threonine kinase 2 ENCODES a protein that exhibits phosphatase binding; ATP binding (ortholog); magnesium ion binding (ortholog); INVOLVED IN protein phosphorylation (ortholog); regulation of interleukin-12 biosynthetic process (ortholog); spermatid differentiation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; INTERACTS WITH copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p34.1 44556926 44789085 + 46269269 46501796 + 45803597 46036124 + 6480464;8554872 10404183;10646847;11099500;12117771;12421765;12477932;14702039;14760703;14764729;15146197;15308666;15489334;15951562;16159897;16710414;17081983;17353931;17979178;18029348;19635844;19961423;21832049;21900206;21988832;22101766;22195963;22609064;22939624;23504457;24140425;24250222;24255178;8246979;8889548;8902215;9872452 23139 E7ERL6;Q6P0Q8;V9GXZ1 AB018350;AB047005;ABBA01050847;ABBA01050848;ABBA01050849;ABBA01050850;ABBA01050851;ABBA01050852;ABBA01050853;AK027123;AK055291;AK096519;AK309510;AL137594;AL358075;AL540100;AL603882;AL603888;AL645480;AL772251;AL833919;AMYH02000941;AMYH02000942;AMYH02000943;AMYH02000944;AMYH02000945;AMYH02000946;AMYH02000947;AMYH02000948;BC006166;BC015816;BC065499;BM675011;CH471059;CN297081;NM_015112;XM_005270652;XM_005270653;XM_005270654;XM_005270655;XM_005270656;XM_005270659;XM_006710475;XM_006710476;XM_006710477 AAH06166;AAH15816;AAH65499;BAA34527;BAB40778;BAG51495;BAG53313;CAB70833;CAD38775;EAX06948;EAX06949;NP_055927;Q6P0Q8;XP_005270709;XP_005270710;XP_005270711;XP_005270712;XP_005270713;XP_005270716;XP_006710538;XP_006710539;XP_006710540 Hs.319481 1648455;1656873;1763847;1776343;1854376;2107325;2128931;2138698;2159307;2163562;5110710 AL009603;MAST2__7379;RH47223;RH65021;RH67834;SHGC-147513;SHGC-30506;SHGC-32364;SHGC-74768;SHGC-74779;WI-21964 FLJ39200;KIAA0807;MAST205;MTSSK;RP4-533D7.1 OTTHUMP00000009697;OTTHUMP00000009698;microtubule associated testis specific serine/threonine protein kinase;microtubule-associated serine/threonine-protein kinase 2 protein-coding ENSG00000086015 HGNC:19035 11294 612257 VALIDATED 1601915 MAST4 microtubule associated serine/threonine kinase family member 4 This gene encodes a member of the microtubule-associated serine/threonine protein kinases. The proteins in this family contain a domain that gives the kinase the ability to determine its own scaffold to control the effects of their kinase activities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] 5 5 5 q12.3 62890649 63463832 + 65892176 66465426 + 66596348 67169598 + 6480464;8554872 12477932;14702039;15231748;16344560;17086981;20009918;20379614;22360420;22949513;9205841 375449 B4DKT8;B4DS23;B5MC73;C9J249;C9JKM7;D6RAK1;E7EWQ5;E7EX28;F8WBH1;H7C0U3;H7C146;H7C1I9;H7C2A9;H7C2V7;H7C3S4;J3QT34;O15021;Q6T2V4 AB002301;ABBA01048309;ABBA01048310;ABBA01048311;ABBA01048312;ABBA01048313;ABBA01048314;ABBA01048315;ABBA01048316;AC008872;AC008920;AC016634;AC034208;AC044799;AC092349;AC092373;AC113365;AK057601;AK131421;AK296707;AK299538;AK299706;AK309559;AMYH02011439;AMYH02011440;AMYH02011441;AMYH02011442;AMYH02011443;AMYH02011444;AY439222;AY830839;BC003646;BC018692;BC033215;BF515864;BM967134;BX648796;BX648980;CB044105;CH471137;DA452178;DA794310;KC877001;KC877010;KC877013;NG_034036;NM_001164664;NM_001290226;NM_001290227;NM_001290228;NM_001297651;NM_015183;NM_198828;XM_005248498;XM_006714602;XM_006714603;XM_006714604;XM_006714605;XM_006714606;XM_006714607;XM_006714608;XM_006714609;XM_006714610;XM_006714611;XM_006714612 AAH33215;AAR13901;AAW52510;BAA20762;BAB71532;BAG59300;BAG61485;BAG61607;EAW51319;EAW51320;EAW51321;NP_001158136;NP_001277155;NP_001277156;NP_001277157;NP_001284580;NP_055998;NP_942123;O15021;XP_005248555;XP_006714665;XP_006714666;XP_006714667;XP_006714668;XP_006714669;XP_006714670;XP_006714671;XP_006714672;XP_006714673;XP_006714674;XP_006714675 Hs.595458;Hs.732793 1335487;1339001;1339907;1643754;1655840;1677440;1691300;1693576;1695478;1695722;1710392;1714455;1718701;1720423;1727017;1752235;1755809;1760487;1779314;1780968;1789613;1789615;1789617;1789619;1789621;1789623;1789625;2113786;2121392;2155447;2170259;2175170;2180293;2182144;5024761;5095014;7187015 AB056382;AFMA296ZE5;D5S2072;D5S2089;D5S2697;D5S647;G59014;G62906;KT3;KT4T3;KT4T7;KT5T3;KT5T7;KTB12L;KTB12R;L28229;L28398;L31437;LOC375449;RH119738;RH123041;RH36905;RH47992;RH65868;RH80944;RH99012;SHGC-106144;SHGC-13353;SHGC-142653;SHGC-143417;SHGC-153316;SHGC-58481;SHGC-68613;SHGC-82470;SHGC-82627;bac55085T DKFZp686E18148;DKFZp686N1467;FLJ16540;FLJ33039;KIAA0303 OTTHUMP00000201718;OTTHUMP00000201719;OTTHUMP00000201720;OTTHUMP00000201722;OTTHUMP00000201724;OTTHUMP00000201725;microtubule-associated serine/threonine-protein kinase 4;similar to microtubule associated testis specific serine/threonine protein kinase protein-coding ENSG00000069020 HGNC:19037 14195 REVIEWED 1319386 MASTL microtubule associated serine/threonine kinase-like This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010] 10 10 10 p12.1 27160210 27192290 + 27443753 27475848 + 27154824 27186919 + 1580863;1598951;6480464;7240710;8554872;8699517 12890928 10521306;10891439;12477932;14702039;15164054;15489334;16344560;16385451;16964243;19471022;20360068;20818157;21139048;21444715;21693764;21890473;21906983;21963094;22102272;22412018;23000965;23455922;24391510;8125298 84930 Q96GX5 ABBA01034399;ABBA01034400;ABBA01034401;ABBA01034402;AK027719;AK074804;AK123004;AK225319;AL160291;AMYH02022508;AMYH02022509;AW408392;AW675108;BC009107;BC013704;BU430288;CH471072;DA524606;DB150802;NG_016987;NM_001172303;NM_001172304;NM_032844;XM_005252630;XM_005252631;XM_005252632;XM_006717518;XM_006717519;XM_006717520 AAH09107;BAB55321;BAC11218;EAW86064;EAW86065;EAW86066;EAW86067;NP_001165774;NP_001165775;NP_116233;Q96GX5;XP_005252687;XP_005252688;XP_005252689;XP_006717581;XP_006717582;XP_006717583 Hs.276905 1336798;1339766;1658123;2219918;5017865;7187443 D10S1639;D10S586;D10S588;MASTL;MASTL__6289;RH45019 FLJ14813;GW;GWL;MAST-L;RP11-85G18.2;THC2;hGWL GREATWALL;OTTHUMP00000019368;OTTHUMP00000019369;OTTHUMP00000019370;greatwall protein kinase;microtubule-associated serine/threonine-protein kinase-like;serine/threonine-protein kinase greatwall APPROVED protein-coding ENSG00000120539 HGNC:19042 10499 188000;608221 REVIEWED 1316095 MAST3 microtubule associated serine/threonine kinase 3 ENCODES a protein that exhibits ATP binding (inferred); magnesium ion binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; cyclosporin A; paracetamol 19 19 19 p13.11 18110327 18164218 + 18208585 18262502 + 18097775 18151692 + 1580863;6480464;8554872 10737800;12421765;15057824;15951562;16344560;17979178;18650832;20562859;9628581 23031 O60307;V9GYV0 AB011133;ABBA01051246;ABBA01051247;ABBA01051248;AC005793;AC007192;AC020904;AC093054;AMYH02035723;AMYH02035724;AMYH02035725;BI907332;BQ340083;DA134568;NM_015016;XM_005259822;XM_005259823;XM_005259824;XM_005259825;XM_005259826;XM_005259827;XM_005259828;XM_006722693;XM_006722694;XM_006722695;XM_006722696;XM_006722697;XM_006722698;XM_006722699;XM_006722700 AAC62830;AAD22670;BAA25487;NP_055831;O60307;XP_005259879;XP_005259880;XP_005259881;XP_005259882;XP_005259883;XP_005259884;XP_005259885;XP_006722756;XP_006722757;XP_006722758;XP_006722759;XP_006722760;XP_006722761;XP_006722762;XP_006722763 Hs.466184 2107327;2184117;5024039 D16S325;MAST3__7380;WI-5938 KIAA0561 microtubule-associated serine/threonine-protein kinase 3 protein-coding ENSG00000099308 HGNC:19036 612258 VALIDATED 6768883 MATN1-AS1 MATN1 antisense RNA 1 1 1 1 p35.2 29446499 29454473 + 31191619 31199593 + 30718772 30726746 + 14702039 100129196 ABBA01023498;AK057725;AK128076;AL137857;AMYH02000662;BC044253;CH471059;HG491846;HG491847;HG491849;NG_027941;NR_034182 BAB71552;EAX07645 Hs.659751 1732962;1740597 D1S112;D1S1348 RP5-1166H10.2 APPROVED ncrna ENSG00000186056 HGNC:40364 VALIDATED 1352772 MATN1 matrilin 1, cartilage matrix protein This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008] 1 1 1 p35 29439005 29451312 - 31184124 31196432 - 30711277 30723585 - 1580863;6480464 10196235;11882030;11896063;12175111;12477932;15075323;15552564;16303743;16710414;17176459;18951430;18985072;19834535;20092731;20137399;20137728;20729554;20739701;21308753;22193623;22278929;2246248;24250222;7989046;9083061 4146 P21941;Q8WVV1 ABBA01023498;ABBA01023499;AK075519;AK312949;AL137857;AMYH02000662;BC131710;CH471059;M55675;M55682;M55683;NG_027941;NM_002379 AAA63904;AAB38702;AAI31711;AAI60064;BAG35790;BAG52161;EAX07642;EAX07643;NP_002370;P21941 Hs.150366 1732962;1740597;1742465;1742847;1797854;1856031;2115898;5094858 D1S112;D1S1348;GDB:197115;GDB:210803;MATN1;MATN1_2620;SGC35368;STS-M55683 CMP;CRTM OTTHUMP00000003805;cartilage matrix protein;matrilin-1 APPROVED protein-coding ENSG00000162510 HGNC:6907 00276 115437 REVIEWED 1606320 MASP2 mannan-binding lectin serine peptidase 2 The Ra-reactive factor (RARF) is a complement-dependent bactericidal factor that binds to the Ra and R2 polysaccharides expressed by certain enterobacteria. Alternate splicing of this gene results in two transcript variants encoding two RARF components that are involved in the mannan-binding lectin pathway of complement activation. The longer isoform is cleaved into two chains which form a heterodimer linked by a disulfide bond. The encoded proteins are members of the trypsin family of peptidases. [provided by RefSeq, Jul 2008] 1 1 1 p36.3-p36.2 10198893 10219593 - 11086580 11107296 - 11026523 11047239 - 6480464;6907045;7240710;8554872 10092804;10330290;10393416;10639434;10679061;10878362;10925294;10946292;11426320;11532276;11907111;12421953;12477932;12538697;12904520;15117939;15364579;15746044;16029433;16040602;16112196;16344560;16395704;16710414;17045845;17096357;17182967;17252003;17303612;17565323;17614162;17709141;17971300;17984804;18177377;18221301;18295674;18400978;18582923;18596574;18638656;18842294;18849076;19050632;19056867;19234189;19275590;19307021;19344414;19405982;19423540;19737459;19775369;19817957;19913121;19948975;20002787;20042521;20150204;20406964;20438785;20467438;20593422;20628086;20817870;21198752;21203938;21489885;21843573;21871896;21926545;21974696;22071314;22173059;22178059;22236007;22380611;22511776;22691502;22966085;23142462;23220946;23402018;23785123;23861212;23911397;23935922;24227370;24424083;8018603;9087411;9777418 10747 O00187 AB008047;AB033742;ABBA01003032;ABBA01003033;ABBA01003034;ABBA01003035;ABBA01003036;AF321558;AF321562;AJ297949;AJ300188;AK290823;AL109811;AMYH02000279;BC052299;BC067359;BC080556;CH471130;CS250107;CS250110;CS251161;CS251164;DA638135;JA630821;JA630824;JA638685;JA638688;JA638750;JA638753;JA638815;JA638818;JA672720;JA672723;JA878777;JA878780;JA883814;JA883817;JA883879;JA883882;JB259191;JB259194;KF495863;NG_007289;NM_006610;NM_139208;X98400;Y09926;Y18281;Y18282;Y18283;Y18284;Y18286;Y18287 AAG50274;AAG50275;AAI56087;AAI56887;BAA78616;BAA85658;BAA85659;BAF83512;CAA67050;CAA71059;CAB50728;CAB50729;CAB50730;CAB50731;CAB50732;CAB50733;CAB50734;CAB50735;CAC15568;CAC17138;CAC17139;CAJ58371;CAJ58372;CAJ58410;CAJ58411;CCE53520;CCE53521;CCE67082;CCE67083;CCE67087;CCE67088;CCE67092;CCE67093;CCF12073;CCF12074;CCQ77657;CCQ77658;CCQ77663;CCQ77664;CCQ77668;CCQ77669;CDH61698;CDH61699;EAW71674;NP_006601;NP_631947;O00187 Hs.655645 1660840 SHGC-34104 MAP19;MASP-2;MASP1P1;sMAP MBL-associated plasma protein of 19 kD;MBL-associated serine protease 2;OTTHUMP00000002174;OTTHUMP00000002175;mannan-binding lectin serine peptidase 1 pseudogene 1;mannan-binding lectin serine protease 1 pseudogene 1;mannan-binding lectin serine protease 2;mannose-binding protein-associated serine protease 2;small MBL-associated protein APPROVED protein-coding ENSG00000009724 HGNC:6902 05484 605102;613791 REVIEWED 1606800 MAT2B methionine adenosyltransferase II, beta The protein encoded by this gene belongs to the methionine adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethionine from methionine and ATP. This protein is the regulatory beta subunit of MAT. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012] 5 5 5 q34-q35 158964332 158980423 + 162930070 162946359 + 163503064 163519353 + 6480464;6907045;7242425 23073625 10644686;11076863;11230166;11256614;11337507;12477932;12671891;12878157;12975309;14702039;15489336;16344560;16381901;18041713;18045590;18698677;18753136;18781797;19027726;19048631;19322201;19683694;19913121;20421296;20628086;20634891;20877624;21139048;21813468;21829377;21832049;21890473;21906983;22505724;22773346;22863883;22939629;23000965;23325601;23425511;23814050;23824909;23940030;25027693;7213623;9055605 27430 E5RJR3;H7C0X7;Q9NZL9 AB073390;ABBA01044183;AC112205;AF113225;AF182814;AJ243721;AK096178;AK291919;AK294069;AK312365;AL136664;AMYH02012635;AU279489;AW966728;AY033822;AY358695;BC005218;BC066645;BC093030;CH471062;DA146198;DQ395260;DQ413182;DQ413183;HY091756;HY366761;NM_013283;NM_182796 AAF28477;AAG39296;AAH05218;AAH66645;AAH93030;AAQ89058;ABD59011;ABD85290;BAE45720;BAF84608;BAG35283;BAH11664;CAB56837;CAB66599;CAL37975;CAL38612;EAW61517;EAW61518;EAW61519;EAW61520;NP_037415;NP_877725;Q9NZL9 Hs.54642 1660021;1685912;1740177;2131615;5020948 D5S1942;G35510;RH93678;SHGC-56899;STS-D25599 MAT-II;MATIIbeta;MGC12237;Nbla02999;SDR23E1;TGR MAT II beta;OTTHUMP00000160916;OTTHUMP00000160917;OTTHUMP00000224275;OTTHUMP00000224294;beta regulatory subunit of methionine adenosyltransferase;dTDP-4-keto-6-deoxy-D-glucose 4-reductase;methionine adenosyltransferase 2 subunit beta;putative dTDP-4-keto-6-deoxy-D-glucose 4-reductase;putative protein product of Nbla02999;short chain dehydrogenase/reductase family 23E, member 1 APPROVED protein-coding ENSG00000038274 HGNC:6905 05701 605527 REVIEWED 737506 MAT2A methionine adenosyltransferase II, alpha The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011] 2 2 2 p11.2 85594476 85600591 + 85766101 85772403 + 85538978 85545280 + 1580863;1300048;1359040;6480464;6907045;7242425 11099469;23073625 10644686;12477932;12660248;12671891;1426236;14530285;15489334;15815621;16413417;17631143;18041713;18423013;18781797;18854154;19019082;19048023;19048631;19161160;19322201;19683694;19913121;20615890;20628086;20634891;21139048;21145461;21247894;21362551;21406062;21460102;21890473;21906983;21963094;21987572;22268729;22318685;22505724;22863883;22879628;22939629;22952844;23000965;23184937;23349634;23425511;24583282;24654937;24816145;25027693;7213623;7665609;9703951 4144 P31153 ABBA01075756;ABBA01075757;AC016753;AK291126;AK293841;AK297758;AK297797;AK303877;AK308591;AK308758;AK309338;AK316411;AMYH02004184;BC001686;BC001854;BI549760;CH471053;DC322518;DQ083239;NG_029183;NM_005911;X68836 AAH01686;AAH01854;AAY24339;AAY85355;ADZ15336;BAF83815;BAG57239;BAG60107;BAG60136;BAG64814;BAH14782;CAA48726;EAW99511;EAW99512;EAW99513;EAW99514;NP_005902;P31153 Hs.516157 1809410;2075838;2075840;2183618 D3S3930;ECD05697;REN109121;REN109122 MAT 2;MAT-II;MATA2;MATII;SAMS2 OTTHUMP00000160677;OTTHUMP00000204973;S-adenosylmethionine synthase isoform type-2;S-adenosylmethionine synthetase isoform type-2;adoMet synthase 2;adoMet synthetase 2;methionine adenosyltransferase 2 APPROVED protein-coding ENSG00000168906 HGNC:6904 03275 601468 REVIEWED 1350110 MATR1 matrin F/G 1 4024 HGNC:6911 1312907 MATN3 matrilin 3 This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] 2 2 2 p24-p23 20054150 20074788 - 20191813 20212455 - 19992052 20012694 - 1599920;1599919;1580863;6480464;7240710;8554872;8699517 11479597;15121775 10486325;11896063;12477932;12736871;14729835;14994237;15075323;15459972;15523498;15694129;16199550;16287128;16344560;16641049;16769693;17311924;17517694;17881354;18205203;18759284;19840795;20077500;20201926;20237151;20301302;21922596;21965141;22270056;22973175;23523902;9287130;9350998;9799608;9847074 4148 O15232 AA461483;ABBA01018484;ABBA01018485;AC079145;AJ001047;AJ224741;AK290856;AMYH02003364;AU121718;BC139907;CA447528;CH471053;EU541440;NG_008087;NM_002381;Y13341 AAI39908;AAX88937;ACB29772;BAF83545;CAA04501;CAA12110;CAA73785;EAX00837;NP_002372;O15232 Hs.656199 1298132;1334924;1697990;1791282;1847256;2109497;2163866;7185342 D2S1399;D2S1789;D2S2264;D2S373;MARC_9961-9962:996688712:1;MATN3_8462;RH102524;WIAF-2090 EDM5;HOA;OS2 DIPOA;OADIP;OTTHUMP00000200547;matrilin-3 APPROVED protein-coding ENSG00000132031 HGNC:6909 03661 140600;602109;607078;608728 REVIEWED 1320229 MATN4 matrilin 4 This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 20 20 20 q13.1-q13.2 40630630 40645500 - 43922086 43937206 - 45293446 45308566 - 1580863;6480464;8554872 10367731;10830110;11279097;11549321;11780052;11896063;12477932;14702039;15075323;16303743;16344560;17267810;18005044;19404940;19531486;20171186;21496664;22876117;9027493;9827539 8785 A2RRP8;A5D8U1;A6NNA4;B3KQB2;O95460 ABBA01052660;AJ007581;AK027323;AK074495;AK074593;AK074595;AK074597;AL021578;AMYH02037148;AMYH02037149;AW134923;BC131763;BC141811;BC143625;BC151219;CH471077;DA970379;NG_033953;NM_003833;NM_030590;NM_030592;XM_005260597;XM_005260598;XM_005260599 AAI31764;AAI41812;AAI51220;BAC11081;BAC11083;BAG51302;BAG51974;CAA07569;EAW75866;EAW75867;EAW75868;NP_003824;NP_085080;NP_085095;O95460;XP_005260654;XP_005260655;XP_005260656 Hs.278489 FLJ14417;HE6WCR54 OTTHUMP00000031671;OTTHUMP00000031672;OTTHUMP00000031673;matrilin-4 APPROVED protein-coding ENSG00000124159 HGNC:6910 04873 603897 REVIEWED 1313328 MATN2 matrilin 2 This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 q22 95067247 95234866 + 98881284 99048948 + 97869056 98036720 + 1580863;6480464;8554872 11124542;11852232;11896063;12164922;12180907;12477932;12975309;14702039;15489334;16303743;16401863;16713569;18328806;18386166;19730683;19834535;19913121;20628086;21078624;21988832;23648065;9083061 4147 E5RJM4;H0YBD5;H0YBF2;H0YBJ4;H0YBM3;H0YBN2;H0YBU5;H0YBV5;J3KN08;O00339;Q8N2G3 ABBA01037527;ABBA01037528;ABBA01037529;AI434413;AK027775;AK075489;AK289721;AL137638;AL833931;AMYH02018476;AMYH02018477;AMYH02018478;AMYH02018479;AP002906;AP003352;AY358895;BC010444;BC016394;BX649093;CB988661;CH471060;KC877283;NM_002380;NM_030583;U69263;XM_005250920 AAC51260;AAH10444;AAH16394;AAQ89254;BAB55358;BAC11648;BAF82410;CAB70853;CAD38787;EAW91764;EAW91765;EAW91766;EAW91767;EAW91768;NP_002371;NP_085072;O00339;XP_005250977 Hs.189445 1655233;1655235;1661339;1670596;1721025;1727447;1763617;2107329;2120233;2186081;5491405 A006G02;D8S2004;G20777;G59494;G62981;HSCZPH042;MARC_10159-10160:996678914:1;MATN2__7381;RH66182;SHGC-147305;SHGC-36779 OTTHUMP00000227538;OTTHUMP00000227539;OTTHUMP00000227540;OTTHUMP00000227541;OTTHUMP00000227542;matrilin-2 APPROVED protein-coding ENSG00000132561 HGNC:6908 03660 602108 REVIEWED 1318717 MAU2 MAU2 sister chromatid cohesion factor ENCODES a protein that exhibits protein N-terminus binding; INVOLVED IN maintenance of mitotic sister chromatid cohesion; ASSOCIATED WITH Melanoma (inferred); FOUND IN chromatin; nucleoplasm; nucleus; INTERACTS WITH arsenous acid; atrazine; diarsenic trioxide 19 19 19 p13.11 19335703 19373641 + 19431496 19469563 + 19320687 19358754 + 6480464;8554872 10048485;12477932;14702039;15489334;16368877;16682347;16802858;20379614;20562864;21890473;21934712;22939629;23022380;23974872;7829101 23383 G8JL95;Q9Y6X3;V9GYS3;V9GZ52 AB020699;ABBA01051323;ABBA01051324;ABBA01051325;ABBA01051326;AC003030;AC022543;AK001349;AK025285;AK025896;AK098275;AK125914;AK126227;AK128029;AL110250;AMYH02035753;BC010222;BC063863;BG149411;BG425236;BI492808;BU617329;BU619900;BY795974;CH471106;NM_015329;XM_005259837;XM_005259838;XM_006722711;XR_430132 AAD03161;AAH10222;BAA74915;BAC05274;BAC86343;BAC86497;BAC87236;CAB53698;EAW84814;EAW84815;EAW84816;EAW84817;NP_056144;Q9Y6X3;XP_005259894;XP_005259895;XP_006722774 Hs.654939;Hs.744479 1720407;1783832;1856576;2156204;5022651 D11S2921;G59006;RH11565;SHGC-156040;T03529 KIAA0892;MAU-2;MAU2L;MGC75361;SCC4 MAU2 chromatid cohesion factor homolog;OTTHUMP00000196563;cohesin loading complex subunit SCC4 homolog;sister chromatid cohesion 4 APPROVED protein-coding ENSG00000129933 HGNC:29140 11117 614560 VALIDATED 732753 MAT1A methionine adenosyltransferase I, alpha This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008] 10 10 10 q22 76021909 76039786 - 82031576 82049721 - 80271820 80289957 - 1580863;1300048;1359039;1599915;6480464;6907045;7242932;7240710;7242425;8699517;8554872 2292587;23073625;9042912;9202427 1056281;10677294;12477932;15164054;15489334;15935930;16341674;16385451;1683972;1772450;18500573;19048631;19161160;19913121;20146079;20201926;20335551;20628086;20634891;20675163;21185701;21678410;21813468;21890473;21906983;22270009;22318685;22807109;22939629;22951388;23000965;23241961;23425511;24231718;3812486;7213623;7271238;7560086;8314764;8393662;8770875;9175157;9482646 4143 B1ANE6;Q00266 ABBA01003804;AK026931;AK290820;AL359195;AMYH02023415;BC018359;BM738684;BX496326;CH471142;D49357;NG_008083;NM_000429;X69078;XM_005269842;XM_005269843 AAH18359;ABM81999;ABM85182;BAA08355;BAF83509;CAA48822;EAW80396;EAW80397;NP_000420;Q00266;XP_005269899;XP_005269900 Hs.282670 1668158;1755131;2108241;2148726;5018021 G15884;MAT1A;MAT1A_8461;RH1570;SHGC-142059 MAT;MAT 1;MAT-I/III;MATA1;SAMS;SAMS1 OTTHUMP00000019971;S-adenosylmethionine synthase isoform type-1;S-adenosylmethionine synthetase isoform type-1;adoMet synthase 1;adoMet synthetase 1;methionine adenosyltransferase 1;methionine adenosyltransferase I/III APPROVED protein-coding ENSG00000151224 HGNC:6903 02013 250850;610550 REVIEWED 1606258 MAVS mitochondrial antiviral signaling protein This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral immunity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 20 20 20 p13 3889325 3918630 + 3827446 3856770 + 3846799 3876123 + 6480464;6907045 10574462;11002417;11780052;12477932;12761501;14702039;15489334;16125763;16127453;16153868;16177806;16239922;16301520;16341674;16344560;16585524;16707574;16731946;16858409;16914100;16964243;16984921;17093192;17911629;18207245;18307765;18550535;18692023;18756281;18818105;18927075;18977754;18984593;19028691;19193783;19351494;19380491;19419966;19454348;19546225;19591957;19609254;19631370;19644511;19690333;19701189;19734229;19881509;19893624;19902255;19914245;19996094;20032188;20044805;20071582;20080758;20097753;20127681;20154210;20159242;20161788;20406818;20434986;20483786;20538852;20554965;20628368;20661427;20699220;20711230;20877624;20962078;21068253;21127988;21130742;21139048;21170385;21187438;21200404;21203974;21268286;21285412;21292167;21421666;21625535;21782231;21813773;21865020;21903422;21957149;22022264;22079989;22105485;22114345;22131337;22341464;22383950;22427742;22588174;22623778;22626058;22674996;22792062;22870331;22901541;22908223;22939629;23028469;23028806;23087404;23246644;23308256;23399697;23460740;23545497;23574001;23582325;23929719;24048902;24285545;24390337;24391214;24529381;24613846;24622840;24623417;24729608;24889249 57506 M1P2Z0;Q7Z434 AB033097;AB097003;AB232371;ABBA01053835;ABBA01053836;ABBA01053837;ABBA01053838;AK023799;AK056260;AK092705;AK095370;AK123956;AK130992;AK291785;AK296897;AL109804;AL353194;AL390136;AL833736;AMYH02036609;AMYH02036610;AMYH02036611;BC000073;BC028962;BC040719;BC040930;BC044952;BC052583;BC062310;BC063593;BM834250;BX649084;CH471133;CQ871280;DB219666;DQ167126;DQ174270;DQ181928;EF467323;EF467324;KC415005;NG_030028;NM_001206491;NM_020746;NR_037921 AAH44952;AAZ80417;ABA19229;ABA54890;ABR24161;ABR24162;ACE86983;ACE87672;AGF94754;BAA86585;BAB14684;BAC77356;BAC85473;BAC85734;BAE79738;BAF84474;BAG59455;CAH56821;EAX10481;EAX10482;NP_001193420;NP_065797;Q7Z434 Hs.570362 1734194;2148256;5014063;5015619;5015869;5015879;5016478;5016596;5016851;5018937;5022463;5022578;5022651;5024756;5037552;5109281;5117897;5118444;5120375;5120437 D11S2921;D11S3114;D11S3316;D15S1390;D1S1423;D1S1425;D20S517E;D3S1673;D8S2279;GDB:313261;GDB:313317;GDB:314949;GDB:315881;GDB:434012;GDB:631802;GDB:631813;RH80030;RH80031;RH80438;WI-17681 DKFZp547C224;DKFZp666M015;FLJ27482;FLJ31698;FLJ35386;FLJ38051;FLJ41962;IPS-1;IPS1;KIAA1271;MGC3260;VISA CARD adapter inducing interferon beta;CARD adapter inducing interferon-beta;CARD adaptor inducing IFN-beta;CARDIF;IFN-B promoter stimulator 1;OTTHUMP00000030141;interferon beta promoter stimulator protein 1;interferon-beta promoter stimulator protein 1;mitochondrial anti-viral signaling protein;mitochondrial antiviral-signaling protein;putative NF-kappa-B-activating protein 031N;virus-induced signaling adapter variant 1b;virus-induced signaling adaptor;virus-induced signaling adaptor variant 1a;virus-induced-signaling adapter APPROVED protein-coding ENSG00000088888 HGNC:29233 13847 609676 REVIEWED 736833 MATR3 matrin 3 This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013] 5 5 5 q31.2 134731161 134789067 + 138609441 138667366 + 139273752 139331677 + 69882;1580863;6480464;7240710;8554872;8699517 2033075 10931946;11525732;12469345;12477932;12840015;12927788;14702039;15302935;15489334;15840729;16189514;16196087;16713569;17043677;17081983;17267499;17353931;17643375;17658460;17932509;18029348;18618731;18676680;18781797;19170196;19240791;19344878;19454010;19471022;19562669;19596686;19625176;19692168;19738201;19836620;19946888;20000738;20020773;20029029;20360068;20421735;21139048;21145461;21182838;21252943;21319273;21549307;21642987;21683594;21771346;21771347;21771348;2180926;21858232;21890473;21900206;21906983;21963094;21987572;22053931;22174317;22178446;22190034;22365833;22505724;22623428;22939629;22963397;23000965;23084401;23125841;23158102;23398456;23443559;23874603;24244333;24332808;24457600;24550385;24583282;24591637;24639526;24654937;24686783;24816145;25027693;8619474;9110174;9630250;9757574;9837826;9872452 9782 A8MXP9;B3KM87;B4DF66;D6R8Z5;D6R991;D6R9F3;D6R9N0;D6RAM9;D6RAY2;D6RB45;D6RBI2;D6RBK5;D6RBS2;D6RCM3;D6RE02;D6REK4;D6REM6;D6RGW7;D6RIA2;H0Y8S1;H0Y8T4;P43243;Q9H4N1 AA233906;AB018266;ABBA01068643;ABBA01068644;AC011404;AF117236;AJ224166;AJ224169;AK001388;AK057645;AK293952;AK299399;AK307872;AK309195;AK316420;AL117541;AMYH02012314;AMYH02012315;AMYH02012316;AY007157;BC015031;BC036498;BU187803;BX510145;BX537365;BX647153;CH471062;CR749210;CR749625;CR936615;DC333260;DC401586;M63483;NG_012846;NM_001194954;NM_001194955;NM_001194956;NM_001282278;NM_018834;NM_199189 AAF17217;AAG02007;AAH15031;ABM85263;ABW03706;BAA34443;BAG50899;BAG57327;BAG61383;BAH14791;CAH18067;CAH18419;CAI56758;EAW62114;EAW62115;EAW62116;EAW62117;NP_001181883;NP_001181884;NP_001181885;NP_001269207;NP_061322;NP_954659;P43243 Hs.268939;Hs.595110 1339413;1645031;1679091;1685520;1690312;1717769;1780630;1853948;2150511;2160315;5014039;5014481;5016478;5020948;5022200;5022450;5024761;5037552;5092990 A007K48;A009D38;D10S275;D22S1584;D5S2530;D5S393;D8S2279;G32456;G35510;GDB:434012;L18426;RH121793;RH36905;RH64907;RH69161;RH70751;RH91334;WI-15469;bac51452T ALS21;DKFZp686K0542;DKFZp686K23100;KIAA0723;MGC9105;MPD2;VCPDM OTTHUMP00000159531;OTTHUMP00000159532;OTTHUMP00000223737;OTTHUMP00000223738;OTTHUMP00000223739;OTTHUMP00000223740;OTTHUMP00000223742;OTTHUMP00000223743;matrin-3;vocal cord and pharyngeal weakness with distal myopathy APPROVED protein-coding ENSG00000015479 HGNC:6912 05270 164015;606070 REVIEWED 1601820 MB21D2 Mab-21 domain containing 2 ENCODES a protein that exhibits protein complex binding; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 3 3 3 q29 190940598 191061951 - 192514604 192635950 - 192796815 192918161 - 6480464;8554872 12477932;14702039;15489334;20379614;21139048;24816145 151963 Q8IYB1 ABBA01058296;ABBA01058297;ABBA01058298;ABBA01058299;ABBA01058300;ABBA01058301;AC090025;AC117416;AK002025;AK056276;AK290447;AMYH02008427;AMYH02008428;AMYH02008429;AMYH02008430;AMYH02008431;AMYH02008432;AMYH02008433;BC013123;BC036194;BC045582;BX648517;CH471052;NM_178496 AAH13123;AAH36194;AAH45582;BAF83136;BAG51663;EAW78082;EAW78083;NP_848591;Q8IYB1 Hs.151443 1644656;1710390;1724609;1739307;1747823;1750113;2111091;2122599;2124957;2143996;2179887;5121727;5121729 A006H10;D3S1503E;D3S2867E;D3S3297E;G20801;G66834;RH121302;RH16535;SHGC-112244;SHGC-33221;SHGC-57353;SHGC-77664;SHGC-82467 C3orf59 OTTHUMP00000208598;hypothetical protein LOC151963;mab-21 domain-containing protein 2 APPROVED protein-coding ENSG00000180611 HGNC:30438 14092 VALIDATED 1353865 MB21D1 Mab-21 domain containing 1 ENCODES a protein that exhibits cyclic-GMP-AMP synthase activity; DNA binding; INVOLVED IN activation of innate immune response; cellular response to exogenous dsRNA; cyclic nucleotide biosynthetic process; FOUND IN cytosol; INTERACTS WITH cadmium atom; methyl methanesulfonate; zinc atom 6 6 6 q13 74529415 74556286 - 74134856 74162043 - 73416514 73452330 - 6480464 12477932;14574404;14702039;15489334;15592455;16344560;19322201;21890473;21963094;23000965;23258413;23707061;23707065;23722159;23929945;24116191;24269171;24462292;24528868;24813208 115004 A6PW79;Q8N884 ABBA01040316;AC019205;AK097148;AL603910;AMYH02013909;AMYH02013910;BC012928;BC108714;BC113606;BC113608;BC143694;CH471051;DA375117;KC294566;NM_138441;XM_006715327 AAH12928;AAI08715;AAI13607;AAI13609;AAI43695;ADR83057;AGB51853;BAC04965;EAW48769;NP_612450;Q8N884;XP_006715390 Hs.658405 1814950;1815652;1815832;1821760;1827694;1830512;1836948;1838598;1838838;1839556;1839810;1841642;1842356;1843424;1845926;1923808;1923810;1923896;1923898;1923900;1923902;1923904;1923906;1923908;1923910;1923912;1923914;1923916;1923918;1923920;1923922;1923924;1923926;1923928;1923930;1923932;1923934;1923936;1923938;1923940;1923942;1923944;1923946;1923948;1923950;1923952;1923954;1923956;1923958;1923960;1923962;1923964;1923966;1923968;1923970;1923972;1923974;1923976;1923978;1923980;1923982;1923984;1923986;1923988;1923990;1923992;1923994;1923996;1923998;1924000;1924002;1924004;1924006;1924008;1924010;1924012;1924014;1924016;1924018;1924020;1924022;1924024;1924026;1924028;1924030;1924032;1924034;1924036;1924038;1924040;1924042;1924044;1924046;1924048;1924050;1924052;1924054;1924056;1924058;1924060;1924062;1924064;1924066;1924068;1924070;1924072;1924074;1924076;1924078;1924080;1924082;1924084;1924086;1924088;1924090;2207322;2207324;2207326;2207328;2207330;2207332;2207334;2207336;2207338;2207340;2207342;2207344;2207346;2207348;2207350;2207352;2207354 ECD08506;ECD08864;ECD08956;ECD11966;ECD14968;ECD16391;ECD19638;ECD20473;ECD20598;ECD20960;ECD21088;ECD22018;ECD22381;ECD22921;ECD24183;REN32728;REN32729;REN32772;REN32773;REN32774;REN32775;REN32776;REN32777;REN32778;REN32779;REN32780;REN32781;REN32782;REN32783;REN32784;REN32785;REN32786;REN32787;REN32788;REN32789;REN32790;REN32791;REN32792;REN32793;REN32794;REN32795;REN32796;REN32797;REN32798;REN32799;REN32800;REN32801;REN32802;REN32803;REN32804;REN32805;REN32806;REN32807;REN32808;REN32809;REN32810;REN32811;REN32812;REN32813;REN32814;REN32815;REN32816;REN32817;REN32818;REN32819;REN32820;REN32821;REN32822;REN32823;REN32824;REN32825;REN32826;REN32827;REN32828;REN32829;REN32830;REN32831;REN32832;REN32833;REN32834;REN32835;REN32836;REN32837;REN32838;REN32839;REN32840;REN32841;REN32842;REN32843;REN32844;REN32845;REN32846;REN32847;REN32848;REN32849;REN32850;REN32851;REN32852;REN32853;REN32854;REN32855;REN32856;REN32857;REN32858;REN32859;REN32860;REN32861;REN32862;REN32863;REN32864;REN32865;REN32866;REN32867;REN32868;REN32869;stSG625889;stSG625890;stSG625891;stSG625892;stSG625893;stSG625894;stSG625895;stSG625896;stSG625897;stSG625898;stSG625899;stSG625900;stSG625901;stSG625902;stSG625903;stSG625904;stSG625905 C6orf150;MGC131892;MGC142166;MGC142168;cGAS;h-cGAS OTTHUMP00000016743;OTTHUMP00000194907;OTTHUMP00000196169;cGAMP synthase;cyclic GMP-AMP synthase;hypothetical protein LOC115004;mab-21 domain-containing protein 1 APPROVED protein-coding HGNC:21367 12857 613973 VALIDATED 69108 MATK megakaryocyte-associated tyrosine kinase The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3715610 3739451 - 3777967 3801810 - 3777969 3801812 - 1580863;6480464 10080957;10329710;12063569;12122014;12429987;12477932;12782282;14702039;15057824;15302935;15329911;15489334;15748901;15890649;16168623;16189514;16273093;16344560;16574955;16707123;1722201;17492661;17934522;18029348;18292939;21078624;21697133;21799000;21890473;21963094;22623531;22939624;23251661;23901102;7516063;7530249;7536744;7936664;8125298;8134117;8288563;8999872;9038210;9171348;9255603 4145 F1T0G6;K7EKC4;K7EKS5;K7ENL8;K7EPP2;K7EQV3;K7EQY5;K7ERY4;K7ES68;P42679 AB593100;ABBA01002843;ABBA01002844;ABBA01002845;ABBA01002846;ABBA01002847;AC005777;AK055395;AK225834;AK315646;AL137754;AMYH02035262;AMYH02035263;AMYH02035264;BC000114;BC003109;BG396388;BM925586;BQ109562;CH471139;DA592994;L18974;NM_002378;NM_139354;NM_139355;S71669;S75164;S75168;X77278 AAA16703;AAB30995;AAC60645;AAC62843;AAH00114;AAH03109;BAG38013;BAG51511;BAJ84040;CAA54493;CAB70906;EAW69284;EAW69285;EAW69286;EAW69287;NP_002369;NP_647611;NP_647612;P42679 Hs.631845 1789362;1789364;1789366;2219170 G67865;G67866;G67868;MATK_2943 CHK;CTK;DKFZp434N1212;HHYLTK;HYL;HYLTK;Lsk;MGC1708;MGC2101 CSK homologous kinase;Csk-homologous kinase;Csk-type protein tyrosine kinase;HYL tyrosine kinase;hematopoietic consensus tyrosine-lacking kinase;hydroxyaryl-protein kinase;leukocyte carboxyl-terminal src kinase related;megakaryocyte-associated tyrosine-protein kinase;protein kinase HYL;tyrosine kinase MATK;tyrosine-protein kinase CTK;tyrosylprotein kinase APPROVED protein-coding ENSG00000007264 HGNC:6906 02496 600038 REVIEWED 1354197 MB myoglobin This gene encodes a member of the globin superfamily and is expressed in skeletal and cardiac muscles. The encoded protein is a haemoprotein contributing to intracellular oxygen storage and transcellular facilitated diffusion of oxygen. At least three alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 19806063 19822655 - 36002811 36019401 - 35606764 35623354 - 1582385;1582429;1582427;1582393;1582388;1582428;1580863;6480464;7244253;7244259 12530625;12558149;12788661;15132981;15762290;15976963;23497406;9822635 10591208;10779502;11452891;12006163;12030657;12477932;12601813;12745799;12760310;14506721;15048578;15226628;15226631;15461802;15485667;15489334;15601759;15644316;16712791;17311997;17605115;17883274;17996904;18029348;19005161;19523464;19541931;19650765;20124401;20531416;20668762;20873231;21139048;21256983;21601304;21639835;21640426;21782983;21832049;21930697;23247055;23297402;2342104;23931877;24026678;24076247;2989088;4627044;477257;5285572;5540041;5555219;5555226;5805522;6326055;6571704;7895732;8007964;9722578;9791540 4151 B0QYF7;B0QYF8;F2Z2F1;F2Z337;P02144;Q8WVH6 ABBA01055423;AK300657;AK314057;AL022334;AL049747;AMYH02038306;BC014547;BC018001;BQ925917;BQ956082;BU585249;CB140824;CH471095;CR456516;CR541949;DQ003030;HG531366;HG531368;HG531369;HG531370;HG531371;HG531372;HG531373;HG531378;HG531379;HG531380;M10090;M14602;M14603;NG_007075;NM_005368;NM_203377;NM_203378;X00371;X00372;X00373;XM_005261605 AAA59595;AAH14547;AAH18001;AAX84516;ABM84605;ABM87049;BAG36764;BAG62343;CAA25109;CAG30402;CAG46747;CAK54547;CAK54846;CDI64131;CDI64132;CDI64133;CDI64134;CDI64135;CDI64138;EAW60065;EAW60066;EAW60067;NP_005359;NP_976311;NP_976312;P02144;XP_005261662 Hs.517586 1679758;1680391;1743131;1790347;2163595;2182937 D22S1549;D22S978E;GDB:270294;MB;RH27830;RH70805 MGC13548;PVALB OTTHUMP00000197919;OTTHUMP00000197921;OTTHUMP00000197922;OTTHUMP00000197935;OTTHUMP00000197936;myoglobgin APPROVED protein-coding ENSG00000198125 HGNC:6915 01170 160000 REVIEWED 1312368 MBD2 methyl-CpG binding domain protein 2 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 18 18 18 q21 48536865 48607453 - 51677971 51751158 - 54151601 54224788 - 1580863;6480464;9585661;8695954 23324617;24880148 10050851;10441743;10444591;10471499;10947852;10950960;11102443;11297506;11553631;11710831;11756549;11960994;11984006;12124384;12177048;12183469;12388720;12477932;12588985;12646234;12665568;14610093;14633992;14688029;15112265;15456747;15489334;15674330;15701600;16052033;16168120;16217013;16410616;16415179;16428440;16951344;16980624;16998846;17049487;17081983;17353267;17360956;17634428;17634443;17688412;18414412;18676680;18830263;18931530;18952593;19019634;19124506;19170196;19454010;19505873;19625176;19661918;19690890;19692168;20300195;20453000;20523938;20937307;21078759;21086164;21165562;21258344;21296012;21316665;21377502;21693597;21724586;21937684;21988832;22048253;22258532;22876037;23071088;23127209;23239876;23361464;23667531;23752268;23770133;23820632;23955541;24024966;24204564;24338710;24816145;9610721;9774669;9790534;9804427 8932 J3KSA7;Q9UBB5;X6RBL6 ABBA01018714;ABBA01018715;AC090666;AC093462;AF039701;AF072242;AF072246;AF072252;AF120988;AF120989;AF120994;AL110266;AMYH02034752;AMYH02034753;AMYH02034754;AW151547;AW274866;BC032638;BE540652;BQ228712;CH471096;NG_029550;NM_003927;NM_015832 AAC18050;AAC68871;AAC68875;AAD56596;AAD56597;AAH32638;CAH10725;EAW62997;EAW62998;EAW62999;NP_003918;NP_056647;Q9UBB5 Hs.25674 1340561;1683341;1710120;1791396;2116666;7185395 D18S487;PMC109239P1;RH36568;RH98619;SHGC-81536 DKFZp586O0821;NY-CO-41 DMTase;OTTHUMP00000163558;demethylase;methyl-CpG-binding domain protein 2;methyl-CpG-binding protein MBD2 APPROVED protein-coding ENSG00000134046 HGNC:6917 04647 603547 REVIEWED 1601828 MBD3L2 methyl-CpG binding domain protein 3-like 2 This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has been found in germ cell tumors and some somatic tissues. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 6961220 6963675 - 7049351 7051746 + 7049340 7051735 + 6480464 12477932;12504854;15701600;23239876 125997 Q8NHZ7 ABBA01009192;AC010606;AF503919;AMYH02035374;CH471139;NM_144614 AAI72325;AAM28154;EAW69051;NP_653215;Q8NHZ7 Hs.567667 1783798 SHGC-144858 MBD3-like protein 2;methyl-CpG-binding domain protein 3-like 2 APPROVED protein-coding ENSG00000230522 HGNC:18532 12139 607964 REVIEWED 731306 MAX MYC associated factor X The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 14 14 14 q23 45527481 45623823 - 65472819 65569413 - 65006101 65102695 - 6480464;6907045;7240710;8554872 10229200;10319872;10465786;10593926;10597290;10611234;10918583;11031250;11208609;11283613;11509179;11535131;11602341;12004135;12391307;12477932;12551947;12553908;12584560;12821782;12824180;1323849;14749374;14759258;15121849;15258910;15302589;15358760;15467743;15489334;15548375;15572685;1557420;15592455;1566084;15674325;15809730;1594250;15960975;16126174;16140957;16189514;16201965;16287840;16352593;16475822;16596619;16705173;16878156;16908182;17072308;17081983;17082780;17157259;17217336;17274640;17289033;17314511;17315254;17353931;17418410;17468742;17471507;17643117;17700062;17705400;17876039;17938259;18003922;18029348;18271930;19086036;19114306;19260139;19578763;19623651;19862010;2006410;20195357;20214878;20301715;20382893;20936779;20946988;21150319;21653943;21670079;21685915;21815647;21859806;21873430;21988832;22086303;22325352;22384171;22452945;22696478;22733550;22939624;22939629;23222517;23251661;23707073;23720494;23816886;7479834;8224841;8247525;8425218;8426752;8479534;8521822;8861962;9050988;9115440;9184233;9199327;9528857;9680483;9708738;9886493 4149 G3V2N4;G3V2R5;G3V302;G3V563;G3V570;G3V5L1;P61244;Q6V3B1;Q8TAX8 ABBA01018375;ABBA01018376;ABBA01018377;ABBA01018378;AI652319;AI655674;AI769390;AI917842;AI954328;AK290130;AK290929;AK292189;AK292630;AK303412;AL139022;AL833643;AMYH02029365;AMYH02029366;AMYH02029367;AMYH02029368;AY353088;BC003525;BC004516;BC013669;BC025685;BC027924;BC036092;BF038005;BF062526;BG177865;CH471061;CR542191;DB451269;DB482510;HY018878;M64240;NG_029830;NM_001271068;NM_001271069;NM_002382;NM_145112;NM_145113;NM_145114;NM_197957;NR_073137;NR_073138;X60287;X66867;XR_429315 AAA36200;AAA36201;AAH03525;AAH04516;AAH13669;AAH25685;AAH27924;AAH36092;AAQ57210;ADZ15775;BAF82819;BAF83618;BAF84878;BAF85319;BAG64465;CAA42827;CAA47337;CAA47338;CAA47339;CAG46988;EAW80898;EAW80899;EAW80900;EAW80901;EAW80902;EAW80903;EAW80904;EAW80905;EAW80906;NP_001257997;NP_001257998;NP_002373;NP_660087;NP_660088;NP_660089;NP_932061;P61244 Hs.285354 1658500;1664728;1667169;1667283;1675638;1771925;2108103;2126618;2154883;2175195;2176004;2190793 A003A45;FNTB_8353;MAX;RH48540;RH66378;RH67850;RH68943;RH69913;RH93897;STS-R42375;WI-18777;WI-9215 MGC10775;MGC11225;MGC18164;MGC34679;MGC36767;bHLHd4;bHLHd5;bHLHd6;bHLHd7;bHLHd8;orf1 OTTHUMP00000183461;OTTHUMP00000183462;OTTHUMP00000183463;OTTHUMP00000183464;OTTHUMP00000183465;OTTHUMP00000246625;OTTHUMP00000246626;OTTHUMP00000246627;OTTHUMP00000246630;OTTHUMP00000246639;OTTHUMP00000246658;class D basic helix-loop-helix protein 4;helix-loop-helix zipper protein;myc-associated factor X APPROVED protein-coding ENSG00000125952 HGNC:6913 01113 154950;171300 REVIEWED 1317930 MBD3L1 methyl-CpG binding domain protein 3-like 1 This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 8836084 8836831 + 8943074 8954016 + 8842593 8843340 + 1580863 12477932;12504854;12920132;15456747;15489334;23239876 85509 Q8WWY6 AB451462;ABBA01014652;AC008734;AMYH02035453;AY038022;BC112058;BC112064;CH471106;NM_145208 AAI12059;AAI12065;AAK72591;BAG70276;EAW83996;NP_660209;Q8WWY6 Hs.133912 2217594;5492475;5493303 MBD3L1_3698;UniSTS:481223;UniSTS:485638 MBD3L;MGC138263;MGC138269 MBD3-like protein 1;methyl-CpG-binding domain protein 3-like 1 APPROVED protein-coding ENSG00000170948 HGNC:15774 12138 607963 REVIEWED 1316562 MBD3 methyl-CpG binding domain protein 3 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 19 19 19 p13.3 1511530 1527508 - 1576670 1592760 - 1576671 1592761 - 1580863;6480464;9585661;8554872 24880148 10441743;10444591;10471500;10947852;11102443;11297506;11331609;11756549;11836615;12124384;12183469;12354758;12453419;12477932;12705869;14702039;15057824;15454082;15456747;15489334;15701600;16091750;16159877;16217013;16428440;16469706;16738318;17049487;17452452;17626165;17827154;18500823;18602768;18644863;19041848;19322201;19454010;19703393;20004753;20127688;20388487;20523938;20547755;20676135;21139048;21196933;21258344;21532573;21670149;21890473;21937684;22196727;22678362;22939629;23239876;23281010;23361464;23443559;23455924;23752268;24250222;24338710;24385926;2470348;24816145;24821728;8889548;9774669;9790534;9804427 53615 K7EIE8;O95983 AA576859;ABBA01002663;AC005943;AF072247;AK001474;AK021532;AK092508;AK290882;AL390153;AMYH02035155;BC000872;BC009372;BC009438;BC018784;BC032443;BC043619;BM684485;BU181763;CH471139;NG_029897;NM_001281453;NM_001281454;X58233 AAC68876;AAC72104;AAH09372;AAH09438;AAH18784;AAH32443;AAH43619;BAF83571;BAG50920;CAA41191;EAW69477;EAW69478;EAW69479;EAW69480;EAW69481;NP_001268382;NP_001268383;O95983 Hs.178728;Hs.595754 1690175;1730205;1797142 D1S281E;MBD3;RH91108 methyl-CpG-binding domain protein 3;methyl-CpG-binding protein MBD3 APPROVED protein-coding ENSG00000071655 HGNC:6918 04653 603573 REVIEWED 5477527 MBD3L3 methyl-CpG binding domain protein 3-like 3 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); lead diacetate (ortholog); mono(2-ethylhexyl) phthalate (ortholog) 19 19 p13.2 7056216 7058645 - 7056205 7058634 - 6480464 15057824 653657 A6NE82 AC010606;AMYH02035374;NM_001164425 A6NE82;NP_001157897 Hs.448960 MBD3-like 3;MBD3-like protein 3;putative methyl-CpG-binding domain protein 3-like 3 protein-coding ENSG00000182315 HGNC:37205 VALIDATED 5477533 MBD3L4 methyl-CpG binding domain protein 3-like 4 This gene encodes a member of a family of proteins that are related to methyl-CpG-binding proteins but lack the methyl-CpG binding domain. There is no definitive support for transcription of this locus, and the transcript structure is inferred from other family members. [provided by RefSeq, Aug 2009] 19 19 p13.2 7037755 7040184 - 7037744 7040173 - 6480464 15057824 653656 A6NDZ8 AC010606;AMYH02035373;NM_001164419 A6NDZ8;NP_001157891 Hs.723810 MBD3-like 4;MBD3-like protein 4;putative methyl-CpG-binding domain protein 3-like 4 protein-coding ENSG00000205718 HGNC:37206 PROVISIONAL 5477562 MBD3L5 methyl-CpG binding domain protein 3-like 5 INTERACTS WITH benzo[a]pyrene (ortholog); lead diacetate (ortholog); mono(2-ethylhexyl) phthalate (ortholog) 19 19 19 p13.2 6961216 6963670 - 7030594 7033022 + 7030583 7033011 + 6480464 15057824 284428 A6NJ08 ABBA01177859;AC010606;AMYH02035371;NM_001136507 A6NJ08;NP_001129979 Hs.717312 1783798 SHGC-144858 MBD3-like 5;MBD3-like protein 5;putative methyl-CpG-binding domain protein 3-like 5 protein-coding ENSG00000237247 HGNC:37204 PROVISIONAL 1314332 MBD1 methyl-CpG binding domain protein 1 The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011] 18 18 18 q21 44651771 44664698 - 47793252 47808144 - 50266882 50281774 - 6480464;8695954;8554872 23324617 10187827;10441743;10454587;10581239;10648624;10866667;12124384;12384770;12477932;12646234;12665582;12697822;12711603;12770674;12788925;14555760;14610093;14728690;15081425;15231748;15327775;15489334;15691849;15777793;15851553;16094384;16284366;16432238;16696318;16713569;16757475;16998846;17066076;17428788;17634428;18445260;18666890;18668384;19074829;19471022;19666599;20062064;20211142;20819778;21326358;21491466;21693764;21832049;21890473;22990118;23000965;23275563;23331011;23588667;24250222;24464130;24654937;8125298;9207790;9774669 4152 A8K654;B4DI41;B4DUR3;K7EIN3;K7EMA9;K7EN65;K7EPZ6;Q9UIS9 AB209765;ABBA01018670;AC090246;AF072241;AF078830;AF078831;AF078832;AF078833;AF120979;AF120980;AF120981;AF120982;AJ564845;AK225889;AK225948;AK291519;AK295401;AK300759;AK302004;AMYH02034703;BC033242;BC047353;BP384783;CD723822;CH471096;DB458244;DC403953;EF488685;NG_029505;NM_001204136;NM_001204137;NM_001204138;NM_001204139;NM_001204140;NM_001204141;NM_001204142;NM_001204143;NM_001204151;NM_002384;NM_015844;NM_015845;NM_015846;NM_015847;XM_005258262;XM_005258264;XM_005258265;XM_005258268;XM_005258271;XM_005258272;XM_005258274;XM_006722452;XM_006722453;XM_006722454;XM_006722455;XM_006722456;XM_006722457;XM_006722458;XM_006722459;XM_006722460;XM_006722461;XM_006722462;XM_006722463;XM_006722464;XM_006722465;XM_006722466;XM_006722467;XM_006722468;XM_006722469;XM_006722470;XM_006722471;XM_006722472;XM_006722473;XM_006722474;XM_006722475;Y10746 AAC68870;AAD50371;AAD51442;AAD51443;AAD51444;AAD51445;AAH33242;ABP02056;BAD93002;BAF84208;BAG58353;BAG62425;BAG63407;CAA71735;CAD92308;EAW62962;EAW62963;EAW62964;EAW62965;EAW62966;EAW62967;NP_001191065;NP_001191066;NP_001191067;NP_001191068;NP_001191069;NP_001191070;NP_001191071;NP_001191072;NP_001191080;NP_002375;NP_056669;NP_056670;NP_056671;NP_056723;Q9UIS9;XP_005258319;XP_005258321;XP_005258322;XP_005258325;XP_005258328;XP_005258329;XP_005258331;XP_006722515;XP_006722516;XP_006722517;XP_006722518;XP_006722519;XP_006722520;XP_006722521;XP_006722522;XP_006722523;XP_006722524;XP_006722525;XP_006722526;XP_006722527;XP_006722528;XP_006722529;XP_006722530;XP_006722531;XP_006722532;XP_006722533;XP_006722534;XP_006722535;XP_006722536;XP_006722537;XP_006722538 Hs.405610 1644849;1666972;1676302;1687489;1734588;2107981;2154670;2176029;2176031;2180856;5093180 A005R33;A009I40;CXXC1_8030;D18S1024;D18S942E;G20447;G32567;RH91758;RH94118;SHGC-57822;WI-19692 CXXC3;PCM1;RFT CXXC-type zinc finger protein 3;OTTHUMP00000163504;OTTHUMP00000163505;OTTHUMP00000163506;OTTHUMP00000163507;methyl-CpG binding domain protein 1 isoform PCM1;methyl-CpG-binding domain protein 1;methyl-CpG-binding protein MBD1;protein containing methyl-CpG-binding domain 1;the regulator of fibroblast growth factor 2 (FGF-2) transcription APPROVED protein-coding ENSG00000141644 HGNC:6916 01133 156535 REVIEWED 1314857 MBIP MAP3K12 binding inhibitory protein 1 ENCODES a protein that exhibits identical protein binding; INVOLVED IN histone H3 acetylation; ASSOCIATED WITH Chorea (inferred); FOUND IN Ada2/Gcn5/Ada3 transcription activator complex; cytoplasm; nucleolus; INTERACTS WITH (+)-catechin; copper(2+) sulfate; crocidolite asbestos 14 14 14 q13.3 16631420 16653542 - 36767764 36789882 - 36298558 36320676 - 1580863;6480464;8554872 10801814;11042152;12477932;1495496;15489334;15840729;16189514;17207965;18029348;18838386;19060904;19471022;21139048;21693764;21906983;21988832;22267200;23408906;24163370;24722188 51562 B2RCV0;Q9NS73;S4R2X9;S4R3N2;S4R3P6;S4R3Y0 AA761503;AB038523;ABBA01061523;AF208857;AK293473;AK315290;AL137226;AMYH02029025;BC005197;BC016821;BX248287;CH471078;NM_001144891;NM_016586;XM_005267754;XM_005267755;XM_005267756 AAF64271;AAH05197;AAH16821;ADQ31677;BAA94083;BAG37697;BAG56966;CAD62615;EAW65862;EAW65863;EAW65864;EAW65865;NP_001138363;NP_057670;Q9NS73;XP_005267811;XP_005267812;XP_005267813 Hs.368647 1649407;1742659;1742665;2109499;5022657 GDB:198189;GDB:198192;MBIP;MBIP_9739;STS-W55968 MAP3K12-binding inhibitory protein 1;MAPK upstream kinase-binding inhibitory protein;MUK-binding inhibitory protein;OTTHUMP00000178844;OTTHUMP00000244269;OTTHUMP00000244270;OTTHUMP00000244271;OTTHUMP00000244272 protein-coding ENSG00000151332 HGNC:20427 14368 609431 VALIDATED 1315360 MAZ MYC-associated zinc finger protein (purine-binding transcription factor) ENCODES a protein that exhibits poly(A) RNA binding; RNA polymerase II core promoter sequence-specific DNA binding; INVOLVED IN termination of RNA polymerase II transcription; transcription initiation from RNA polymerase II promoter; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; ampicillin 16 16 16 p11.2 72973757 72978406 - 29817417 29822504 + 29806096 29811183 + 1580863;6480464 10448092;10493829;10727212;11527412;12270922;12477932;12509857;12528113;14765995;1502157;15067082;15379550;15528467;1567856;16648491;16888022;17237427;17902047;17927842;19028685;19074642;19242545;19583771;19615732;21665940;23602568;23609189;24163370;8626793;8831693;8889548;9685418;9790757 4150 H3BPU3;H3BQI4;H3BQS2;H3BRC5;H3BTS8;I3L0M3;I3L0V8;I3L2Z5;I3L411;I3L4D3;I3L4Y2;P56270;Q59GP8 AA588396;AB017335;AB209061;ABBA01013117;AC002301;AC009133;AC243914;AF489858;AI079560;AI360548;AK074720;BC039057;BC041629;BI198991;BM695402;BQ431307;BU615653;BX362240;BX363391;CH471238;CN483327;D85131;EF059746;FJ532357;HY067550;HY087969;L01420;M93339;M94046;NM_001042539;NM_001276275;NM_001276276;NM_002383;NR_074080;U33819;XM_006721047;XM_006721048 AAB04121;AAC08710;AAH41629;AAL31317;AAN03800;ABN80996;ACS26236;BAA12728;BAA33064;BAD92298;EAW79994;EAW79995;EAW79996;EAW79997;EAW79998;EAW79999;EAW80000;EAW80001;EAW80002;EAW80003;NP_001036004;NP_001263204;NP_001263205;NP_002374;P56270;XP_006721110;XP_006721111 Hs.23650 1649937;1851614;7187772 D16S429E;STS-L29096 MAZI;PUR1;Pur-1;SAF-1;SAF-2;SAF-3;ZF87;ZNF801;Zif87 myc-associated zinc finger protein;purine-binding transcription factor;serum amyloid A activating factor 1;serum amyloid A activating factor 2;serum amyloid A-activating factor-1;transcription factor Zif87;zinc finger protein 801;zinc-finger protein, 87 kilodaltons protein-coding ENSG00000103495 HGNC:6914 02999 600999 VALIDATED 1344111 MBD5 methyl-CpG binding domain protein 5 This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Mar 2010] 2 2 2 q23.1 142492728 142985183 + 148778580 149271046 + 148021011 148513477 + 1580863;6480464;7240710;8554872;8699517 10819331;12421765;12477932;12529184;14702039;15489334;16344560;17847001;19056867;19904302;20700456;20936779;21271666;21981781;23055267;23422940;24250222;24885232 55777 E9PHH0;H7C066;Q9P267 AB040894;ABBA01028004;ABBA01028005;ABBA01028006;ABBA01028007;ABBA01028008;ABBA01028009;ABBA01028010;ABBA01028011;AC016731;AC018465;AC019070;AC019226;AC079391;AC092605;AK055079;AK090496;AK304424;AMYH02004949;AMYH02004950;AMYH02004951;AMYH02004952;AMYH02004953;AMYH02004954;AMYH02004955;BC014534;BC150264;CA449443;CH471058;DA240785;EF542797;KF456728;NG_017003;NM_018328;XM_005263711;XM_005263712 AAI50265;AAY14912;ABQ18300;BAA95985;BAG52172;BAG65253;EAX11550;EAX11551;EAX11552;NP_060798;Q9P267;XP_005263768;XP_005263769 Hs.458312 1298121;1334630;1335255;1337844;1687467;1709656;1714163;1754621;1774154;1775341;1778404;1792346;1855801;2108243;2113898;2115859;2132608;2160291;2169591;2175342;2191259;5015093;5121420 A004M40;AB055304;D2S1287;D2S2184;D2S222;D2S2335;D2S2365;D2S2925;G09491;G16397;MARC_16821-16822:1021560530:2;MBD5_8066;PMC149351P2;RH119690;RH45661;RH69599;RH92574;SHGC-132968;SHGC-152978;SHGC-31239;SHGC-58144;SHGC-61983;SHGC-85194 FLJ11113;FLJ30517;KIAA1461;MRD1 OTTHUMP00000197369;OTTHUMP00000197370;methyl-CpG-binding domain protein 5;methyl-CpG-binding protein MBD5 APPROVED protein-coding ENSG00000204406 HGNC:20444 11295 156200;611472 REVIEWED 1343390 MBL1P mannose-binding lectin (protein A) 1, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 17alpha-ethynylestradiol (ortholog); 2,4-dinitrotoluene (ortholog) 10 10 10 q22.3 75670857 75673805 + 81679934 81682875 + 79920178 79923119 + 6480464 15458704;15716605;16115813;20210993;21889966;24008740;9501312 8512 ABBA01003818;AF019382;AL512662;AMYH02023411;NR_002724 Hs.733579 1769803 STS-H92757 COLEC3P;MBL1P1 APPROVED pseudo ENSG00000242600 HGNC:6921 VALIDATED 1313885 MBD4 methyl-CpG binding domain protein 4 The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] 3 3 3 q21.3 127576629 127585688 - 129149787 129159022 - 129430944 129440179 - 1580863;2316846;6480464;6907045;8695954 19469655;23324617 10097147;10441743;10499592;10545939;10583946;10930409;11056019;11836615;11937636;12220634;12430186;12477932;12702765;12766061;12926109;14614141;14667819;15205355;15342556;15489334;15899845;16803845;16831587;17049487;17143486;17285135;17360956;18029348;18162445;18452947;18495292;18519584;18676680;19170196;19395862;19403629;19471022;19625176;19692168;20100009;20226869;20453000;20522537;20574454;20644561;20676650;20731661;21139048;21377502;21820404;21890473;21900206;21971312;21988832;22560993;22848106;23027038;23275563;23316048;23455924;24004570;24250222;9774669;9823339 8930 D6RBI7;O95243 ABBA01059231;AF072250;AF114784;AF120999;AF494057;AF532602;AK303013;AK312878;AL449212;AM180876;AMYH02007640;BC011752;BC034463;BP370521;BY997577;CD678412;CH471052;CR450305;DB568237;NG_033106;NM_001276270;NM_001276271;NM_001276272;NM_001276273;NM_003925 AAC68879;AAD22195;AAD50374;AAH11752;AAM00008;AAP97338;ADZ15439;BAG64144;CAG29301;CAJ55826;EAW79251;EAW79252;EAW79253;EAW79254;EAW79255;NP_001263199;NP_001263200;NP_001263201;NP_001263202;NP_003916;O95243 Hs.35947 1687594;1855977;2135497 RH78192;RH93317;STS-AA010492 MED1 3,N(4)-ethenocytosine glycosylase;G/5-fluorouracil mismatch glycosylase with biphasic kinetics;G/T mismatch glycosylase;G/U mismatch glycosylase;OTTHUMP00000215413;OTTHUMP00000215522;OTTHUMP00000215523;OTTHUMP00000215694;methyl-CpG-binding domain protein 4;methyl-CpG-binding endonuclease 1;methyl-CpG-binding protein MBD4;mismatch-specific DNA N-glycosylase;putative methyl-CpG binding protein APPROVED protein-coding ENSG00000129071 HGNC:6919 04654 603574 REVIEWED 1601715 MBLAC2 metallo-beta-lactamase domain containing 2 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH acetaldehyde; ethyl methanesulfonate; formaldehyde 5 5 5 q14.3 85655867 85672432 - 89754020 89770585 - 90458203 90474768 - 6480464 12477932;14702039;21139048;21890473;21963094;22505724;24654937 153364 B3KY36;Q68D91 ABBA01062154;AC093510;AI288430;AK096942;AK128603;AK289778;AMYH02011773;BC038230;BI918374;CH471084;CR749512;NM_203406 AAH38230;BAC04908;BAF82467;BAG54698;CAH18329;EAW95979;NP_981951;Q68D91 Hs.64004 1338598;1768193;5092632;7186665 A005C27;D5S618;G32227 DKFZp686P15118;MGC46734 OTTHUMP00000162004;beta-lactamase-like;metallo-beta-lactamase domain-containing protein 2 protein-coding ENSG00000176055 HGNC:33711 14099 VALIDATED 7175184 MBNL1-AS1 MBNL1 antisense RNA 1 3 3 3 q25.1 150398488 150405498 - 151980405 151987415 - 152262616 152269626 - 11181995;14702039;16341674 401093 AA884826;ABBA01058899;AC106722;AK026494;AK126417;AK304857;AK316515;AMYH02007908;BM790896;CH471052;NR_027037;NR_027038 BAG65595;BAH14886;EAW78786;EAW78787;EAW78788 Hs.725347 1655312;1663036;1684912;2178321 RH48416;RH92411;SHGC-77467;STS-N21420 ncrna ENSG00000229619 HGNC:44584 VALIDATED 1343274 MBL3P mannose-binding lectin family member 3, pseudogene 10 10 q22.3 81342054 81344633 - 79582298 79584877 - 14557465;19059118;20579738 50639 ABBA01020206;AMYH02023402;BX248123;NG_029674 COLEC2;MBL APPROVED pseudo HGNC:2221 INFERRED 1602638 MBLAC1 metallo-beta-lactamase domain containing 1 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH potassium dichromate; flutamide (ortholog); pirinixic acid (ortholog) 7 7 7 q22.1 94459580 94461384 + 99724317 99726121 + 100126694 100128498 + 6480464 12477932;12690205 255374 A4D2B0;C9JAV3 ABBA01013235;AC073842;AMYH02016372;AW449216;AW772344;BC031288;BQ441096;CH236956;CH471091;NM_203397;XM_005250250 A4D2B0;AAH31288;EAL23849;EAW76587;NP_981942;XP_005250307 Hs.632319 1682628;2180267 RH99005;SHGC-57793 MGC39819 OTTHUMP00000206812;OTTHUMP00000210552;metallo-beta-lactamase domain-containing protein 1 protein-coding ENSG00000214309 HGNC:22180 18584 VALIDATED 1603984 MBNL3 muscleblind-like splicing regulator 3 This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009] X X X q26.2 131889747 132010400 - 131503342 131624063 - 132369314 132490035 - 6480464 10970838;11929853;12297108;12477932;14702039;15257297;15489334;15772651;16344560;17102799;18029348;19095965;21139048;23602568 55796 B1AKI2;B1AKI4;B1AKI5;B1AKI6;Q9NUK0 AB077698;AB077699;ABBA01042225;ABBA01042226;ABBA01042227;ABBA01042228;ABBA01042229;ABBA01042230;ABBA01042231;ABBA01042232;ABBA01042233;ABBA01042234;ABBA01042235;AF467070;AF491305;AI633721;AJ427918;AJ427919;AK002178;AK300248;AK307194;AL050310;AL133625;AL161442;AMYH02040500;AMYH02040501;AW665447;AY072692;AY372211;BC042090;BC074775;BC074776;BU569439;CH471107;CR627122;DA832176;DB023330;DC380677;KF459422;NG_016324;NM_001170701;NM_001170702;NM_001170703;NM_001170704;NM_018388;NM_133486;XM_005262431;XM_005262432;XM_005262433;XM_005262434;XM_005262435;XM_005262436;XM_005262437;XM_005262438;XM_005262439;XM_005262440;XM_005262441;XM_005262442;XM_006724766 AAH42090;AAH74775;AAH74776;AAL65661;AAL87670;AAM09533;AAQ75759;ABZ92515;BAA92124;BAB85648;BAB85649;BAG62014;CAB63751;CAD20869;CAD20870;EAX11778;EAX11779;EAX11780;NP_001164172;NP_001164173;NP_001164174;NP_001164175;NP_060858;NP_597846;Q9NUK0;XP_005262488;XP_005262489;XP_005262490;XP_005262491;XP_005262492;XP_005262493;XP_005262494;XP_005262495;XP_005262496;XP_005262497;XP_005262498;XP_005262499;XP_006724829 Hs.105134;Hs.596347 1691662;1698478;1700256;1705824;1776231;1851270;2144061;2158136;2176267;2179370;2180195;2186025 A004B40;AL032596;DXS9775;RH102788;RH103745;RH12514;RH36394;RH36548;RH69876;SGC34596;SHGC-78081;STS-H98521 CHCR;FLJ11316;FLJ97142;MBLX;MBLX39;MBXL Cys3His CCG1-required protein;OTTHUMP00000024038;OTTHUMP00000024039;OTTHUMP00000024040;OTTHUMP00000024041;OTTHUMP00000024042;OTTHUMP00000024043;OTTHUMP00000024044;muscleblind-like 3;muscleblind-like X-linked protein;muscleblind-like protein 3 APPROVED protein-coding ENSG00000076770 HGNC:20564 02329 300413 REVIEWED 1322301 MBD6 methyl-CpG binding domain protein 6 ENCODES a protein that exhibits chromatin binding; FOUND IN chromocenter; nucleus; INTERACTS WITH 2-methylcholine; arsenite(3-); disodium selenite 12 12 12 57572491 57579763 + 57915463 57923931 + 57520710 57530148 + 1580863;6480464 11572484;12477932;12529184;14702039;16169070;16713569;18029348;19322201;20700456;23052207;23055267;24250222 114785 F8VNX1;F8VPC4;F8VU14;F8VVK7;F8VW40;F8VZD7;H0YHD1;H0YHN1;H0YIU1;Q6P0P0;Q96DN6 AB067474;ABBA01026698;ABBA01026699;ABBA01026700;AC022506;AK056399;AK093078;AK296990;AL834230;AMYH02026586;AMYH02026587;AMYH02026588;BC034295;BC040149;BC051370;BC065530;CH471054;CR627478;NM_052897;XM_005268617;XM_005268618;XM_005268620;XM_006719217;XM_006719218;XR_429073;XR_429074;XR_429075;XR_429076;XR_429077;XR_429078;XR_429079 AAH65530;BAB67780;BAB71176;BAC04045;BAG59530;CAD38908;CAH10678;EAW97024;EAW97025;EAW97026;NP_443129;Q96DN6;XP_005268674;XP_005268675;XP_005268677;XP_006719280;XP_006719281 Hs.524523 1655432;1728955;1744241;1769907;1792348;1792408;1850637;2108245;2183069 D10Wsu93e;D12S1943;GDB:438520;MBD6_8173;PMC149351P3;PMC150726P8;RH17412;RH17902;RH70660 KIAA1887 OTTHUMP00000242810;methyl-CpG-binding domain protein 6;methyl-CpG-binding protein MBD6 protein-coding ENSG00000166987 HGNC:20445 11296 VALIDATED 1322766 MBOAT1 membrane bound O-acyltransferase domain containing 1 This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] 6 6 6 p22.3 21334020 21445825 - 20099915 20212695 - 20099684 20212464 - 737633;6480464;6907045 12477932 14574404;14702039;15489334;17440500;17890783;18287005;18718904;18772128;18821565;20339536;23251661;24489884;8889548 154141 Q6ZNC8 AB305043;ABBA01022249;ABBA01022250;AK093994;AK131269;AK296857;AK304748;AL008627;AL158198;AL355139;AMYH02013254;AMYH02013255;AMYH02013256;BC045695;BC150650;BC150652;BM978819;NM_001080480;NR_073465;XM_006714999;XM_006715000 AAI50651;AAI50653;AAI56594;BAC04264;BAD18447;BAF93899;BAG59421;BAG65506;NP_001073949;Q6ZNC8;XP_006715062;XP_006715063 Hs.377830 1649295;1679509;1731977;1788868;2112226;5014051;5015619;5022200;5037552 D11S3114;D6S2246;D6S488;D8S2278;D8S2279;G67630;L18426;RH48125;STS-D29509 1;LPEAT1;LPLAT;LPLAT 1;LPSAT;MGC44669;OACT1;dJ434O11.1 1-acylglycerophosphoserine O-acyltransferase;O-acyltransferase (membrane bound) domain containing 1;O-acyltransferase domain-containing protein 1;OTTHUMP00000016082;lyso-PS acyltransferase;lysophosphatidylethanolamine acyltransferase 1;lysophosphatidylserine acyltransferase;lysophospholipid acyltransferase 1;membrane-bound O-acyltransferase domain-containing protein 1 APPROVED protein-coding HGNC:21579 611732 REVIEWED 1315628 MBNL2 muscleblind-like splicing regulator 2 This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012] 13 13 13 q32.1 78721989 78893793 + 97874549 98046374 + 97222295 97394120 + 6480464 11929853;11991713;12477932;15057823;15257297;15489334;16273094;16946708;19095965;19177353;19322201;20379614;21529783;21906983;22884328;23251661;23739326;24440524;24457600 10150 A2A3S3;B4E3F7;O95205;Q5JSC0;Q5VZF2 ABBA01027163;ABBA01027164;ABBA01027165;ABBA01027166;ABBA01027167;AF061261;AF116683;AF339782;AF491866;AK291727;AK304699;AK315844;AL161430;AL442067;AMYH02028542;AMYH02028543;AMYH02028544;AMYH02028545;AMYH02028546;AY101770;BC020418;BC020430;BC032426;BC104038;BC104039;BC104040;BE246602;CA429672;CH471085;CR749802;DW415513;NM_144778;NM_207304;XM_005254018;XM_005254019;XM_005254020;XM_005254021;XM_005254022;XM_006719912 AAC67242;AAF71103;AAH20418;AAH32426;AAI04039;AAI04040;AAI04041;AAM09798;AAM50085;ABZ92286;BAF84416;BAF98735;BAG65469;CAH18662;EAX08968;EAX08969;EAX08970;EAX08971;NP_659002;NP_997187;Q5VZF2;XP_005254075;XP_005254076;XP_005254077;XP_005254078;XP_005254079;XP_006719975 Hs.657347 1335651;1660825;1693294;1736354;1760395;1761901;1771886;1771888;1789070;1856086;1856197;2113404;2118143;2123555;2124690;2134600 A005C24;D13S1179;D13S1766;D13S322;D13S863E;D13S892;G20272;G42350;G65670;RH44531;SGC34959;SGC38389;SHGC-142290;SHGC-145835;STS-H64804;WI-17498 DKFZp781H1296;MBLL;MBLL39;MGC120625;MGC120626;MGC120628;PRO2032;RP11-128N14.1 OTTHUMP00000018578;OTTHUMP00000178763;muscleblind-like 2;muscleblind-like protein 1;muscleblind-like protein 2;muscleblind-like protein-like 39 APPROVED protein-coding ENSG00000139793 HGNC:16746 09543 607327 REVIEWED 1602605 MBOAT4 membrane bound O-acyltransferase domain containing 4 ENCODES a protein that exhibits serine O-acyltransferase activity; INVOLVED IN peptidyl-serine octanoylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of endoplasmic reticulum membrane (ortholog); INTERACTS WITH aflatoxin B1; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 8 8 8 p12 28948589 28961567 - 29989187 30002200 - 30131671 30144684 - 6480464;8554872 18443287;19479831;19628676;21035823;21150588;21646729;21930173;22869322;23454172;23879975;24045953;24194510 619373 Q96T53 ABBA01023671;AC026979;AF359269;AMYH02017711;CH471080;EU518495;NM_001100916 AAK43717;ACB05873;EAW63467;NP_001094386;Q96T53 Hs.627194 FKSG89;GOAT;OACT4 O-acyltransferase (membrane bound) domain containing 4;O-acyltransferase domain-containing protein 4;OTTHUMP00000225065;ghrelin O-acyltransferase;membrane-bound O-acyltransferase domain-containing protein 4 protein-coding ENSG00000177669 HGNC:32311 611940 VALIDATED 1606580 MBNL1 muscleblind-like splicing regulator 1 ENCODES a protein that exhibits double-stranded RNA binding; poly(A) RNA binding; RNA binding; INVOLVED IN regulation of RNA splicing; RNA splicing; embryonic limb morphogenesis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; cytoplasmic stress granule; nucleus; INTERACTS WITH 17beta-estradiol; 3-methylcholanthrene; 5-fluorouracil 3 3 3 q25 150403912 150601668 + 151962120 152183569 + 152244321 152465780 + 6480464;8554872 10970838;11433021;11590133;11929853;12477932;14722159;15257297;15546872;15961406;16273094;16394256;16717059;16920640;16946708;17846170;17942744;18335541;19043415;19095965;19345584;19738201;19805260;20519504;21139048;21439371;21454535;21548961;21623381;21685920;21832049;21832083;21900255;21906983;21988832;22106026;22113158;22306654;22355723;22505724;22520280;22558309;22623428;22890842;22939629;23161457;23166594;23739326;23807294;23949219;24048253;24354850;24373687;24440524;8889548;9455477 4154 C9J4T8;C9J7P7;C9JCX1;C9JP00;H7C4T5;H7C4Y1;Q86VM6;Q9NR56 AB007888;ABBA01058896;ABBA01058897;ABBA01058898;ABBA01058899;AC026347;AC106722;AF255334;AF395876;AF401998;AF497718;AF497719;AI971426;AJ308400;AK297133;AK304089;AK307420;AMYH02007908;AMYH02007909;AMYH02007910;AMYH02007911;AW204030;BC005296;BC043493;BC050535;BM686432;BQ223290;BX537491;CH471052;CR749454;NM_021038;NM_207292;NM_207293;NM_207294;NM_207295;NM_207296;NM_207297;XM_005247457;XM_005247458;XM_005247459;XM_005247460;XM_005247461;XM_005247462;XM_005247463;XM_005247464;XM_005247465;XM_005247466;XM_005247467;XM_005247468;XM_005247469;XM_005247470;XM_005247471;XM_005247472;XM_005247473;XM_005247474;XM_005247475;XM_005247476;XM_005247477;XM_006713639;XM_006713640;XM_006713641;Y13829 AAF76138;AAH43493;AAH50535;AAK82889;AAK94915;AAP30726;AAP30727;ABZ92514;BAA24858;BAG59637;BAG64995;CAA74155;CAC83727;CAH18290;EAW78775;EAW78776;EAW78777;EAW78778;EAW78779;EAW78780;EAW78781;EAW78782;EAW78783;NP_066368;NP_997175;NP_997176;NP_997177;NP_997178;NP_997179;NP_997180;Q9NR56;XP_005247514;XP_005247515;XP_005247516;XP_005247517;XP_005247518;XP_005247519;XP_005247520;XP_005247521;XP_005247522;XP_005247523;XP_005247524;XP_005247525;XP_005247526;XP_005247527;XP_005247528;XP_005247529;XP_005247530;XP_005247531;XP_005247532;XP_005247533;XP_005247534;XP_006713702;XP_006713703;XP_006713704 Hs.201858;Hs.725347 1341733;1342114;1645137;1655312;1660353;1667363;1671209;1684912;1701244;1716077;1735132;1735146;1778103;2148363;2151588;2175172;2178321;5017747;7187788 D3S1237;D3S1280;D3S2796E;D3S2805E;MBNL1;RH104250;RH121002;RH36544;RH48416;RH65783;RH92411;SGC34207;SHGC-14582;SHGC-17260;SHGC-32912;SHGC-77464;SHGC-77465;STS-N21420 DKFZp686P06174;EXP;EXP35;EXP40;EXP42;KIAA0428;MBNL OTTHUMP00000214226;OTTHUMP00000214227;OTTHUMP00000214228;OTTHUMP00000214229;OTTHUMP00000214230;OTTHUMP00000214231;OTTHUMP00000214232;OTTHUMP00000214233;OTTHUMP00000214234;OTTHUMP00000214235;OTTHUMP00000214236;muscleblind-like protein 1;triplet-expansion RNA-binding protein APPROVED protein-coding ENSG00000152601 HGNC:6923 07355 606516 VALIDATED 1351867 MBS1 Moebius syndrome 1 ASSOCIATED WITH Moebius syndrome 1 (inferred) 7240710 1870098 4156 HGNC:6926 157900 1348518 MBS2 Moebius syndrome 2 ASSOCIATED WITH Facial paresis, hereditary, congenital (inferred) 7240710 8872479 7880 1340665 D3S1292 HGNC:6927 601471 1314050 MBOAT2 membrane bound O-acyltransferase domain containing 2 ENCODES a protein that exhibits 1-acylglycerol-3-phosphate O-acyltransferase activity (inferred); INVOLVED IN glycerophospholipid biosynthetic process (inferred); phosphatidylcholine acyl-chain remodeling (inferred); phosphatidylethanolamine acyl-chain remodeling (inferred); PARTICIPATES IN glycerophospholipid metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum membrane (inferred); integral component of membrane (inferred); INTERACTS WITH afimoxifene; isotretinoin; valproic acid 2 2 2 p25.1 8911342 9013310 - 8996701 9143876 - 8856571 9003747 - 737633;6480464;6907045;8554872 12477932 14702039;15489334;16303743;17890783;8619474;9110174 129642 C9J2H7;F8WDJ6;H7C5D1;Q6ZWT7 AB305044;ABBA01015574;AC012495;AC112723;AF052107;AK027321;AK074779;AK295907;AK309818;AK315881;AMYH02003244;BC016005;BC146871;BC157827;CH471053;KF510833;NM_138799;XR_241247;XR_241248 AAH16005;AAI46872;AAI57828;BAC11204;BAC85105;BAF93900;BAF98772;BAH12219;EAX01013;NP_620154;Q6ZWT7 Hs.467634;Hs.593538 1341747;1652294;1655733;1663320;1681394;1687804;1689917;1783958;1848989;2170072 D2S2919;D2S415;G29251;RH18247;RH80026;RH92405;RH99216;SHGC-112561;STS-Z40580;WI-20514 FLJ14415;FLJ90298;LPCAT4;OACT2 1-acylglycerophosphate O-acyltransferase;1-acylglycerophosphoethanolamine O-acyltransferase;LPAAT;LPEAT;LPLAT 2;O-acyltransferase (membrane bound) domain containing 2;O-acyltransferase domain-containing protein 2;OTTHUMP00000115421;lyso-PA acyltransferase;lyso-PE acyltransferase;lysophosphatidic acid acyltransferase;lysophosphatidylethanolamine acyltransferase;lysophospholipid acyltransferase 2;membrane-bound O-acyltransferase domain-containing protein 2 protein-coding HGNC:25193 11410 611949 VALIDATED 1346632 MBS3 Moebius syndrome 3 ASSOCIATED WITH Facial paresis, hereditary, congenital (inferred) 7240710 10441582 22811 1337516;1338112 D10S502;D10S581 HGNC:6928 604185 736262 MBP myelin basic protein The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008] 18 18 18 q23 71507828 71661692 - 74690789 74844774 - 76978833 77133708 - 1358488;1580863;1358773;1358763;6480464;7349324;7349336;7327203;7349334;7327204;7327195;7327196;7349338;7349333;7327194;7327197;7327205;7349325 10212300;11460777;16285900;16680560;1691612;18583256;21906685;22750584;23146304;23245577;23614640;23667870;23715956;23727401;23735240;7554482 10339476;10346818;10371216;10383403;10390541;10523312;10708586;10910078;10947953;10958680;10980603;11080454;11120354;11124993;11152681;11258664;11295122;11402450;11500515;11570821;11641781;11683387;11864968;11875070;11940329;11964256;12101123;12237860;12377379;12429732;12477932;12618862;12760422;12939427;12955071;12965257;14530346;14579272;14594813;14702039;14702098;14714495;14743429;15009677;15147269;15328539;15380617;15489334;15728454;15791647;15797222;15870294;15927069;16079912;16216881;16269541;16387849;16412431;16441258;16712791;16713569;16842822;16871440;1689270;16900754;17064692;17081983;17259179;17260967;17331951;17351112;17415991;17584768;17599067;17622942;17690840;17706965;17823288;17906618;18067995;18284662;18543229;18663124;18713991;18720029;18802067;19014520;19034380;19053745;19110265;19154657;19293155;19372141;19385666;19423540;19468823;19570024;19663312;19690890;19692707;19826009;19910486;19950581;20212043;20406964;20438785;20471030;20629634;20807757;21203542;21312222;21315177;21551065;21601398;21609718;21673997;21806997;21860087;21898163;22258479;22496821;22538354;22542401;22705344;22888134;22890910;22939629;22968126;23166209;23264040;23315809;23510371;23520443;23524951;23726766;2413024;2414074;2425357;2426402;2427738;2434243;2437795;2442403;2449425;24667176;2466844;2467009;24681954;2472816;24739384;24816145;24975362;4099924;4108501;4924231;5128665;6083474;6201481;7504278;7544282;7574672;7665586;7685161;8170997;8375396;8537403;8544862;8647104;8786845;8798720;8846788;8889548;9020143;9136767;9155018;9207191;9628874;9782128;9792705;9873047 4155 A8MZH3;C9J6H1;E9PJ72;E9PKX9;E9PLQ9;E9PLU9;E9PMR5;E9PNZ1;E9PQE7;E9PSE2;F5H7N4;F8WEU6;H0YEA2;H0YF02;H7BYR8;J3KS94;J3KT01;J3KT34;J3QKL5;J3QKN5;J3QL64;J3QQK6;P02686 AB208986;ABBA01015291;ABBA01015292;AC018529;AC093330;AK074315;AK093588;AK094611;AK095121;AK098402;AK098513;AK122594;AK123433;AK124830;AK126858;AK128770;AK128788;AK289893;AK293922;AK296492;AK314553;AMYH02035026;AMYH02035027;BC008749;BC030093;BC065248;BC068550;BC080654;BC101771;BC101773;BC130034;BC143348;BC143350;BG766942;BM977768;BU430656;CB153535;CB156561;CH471117;CQ846348;CR536534;CR541919;CR627018;CS255751;HC679210;HI574052;HI574054;HI574056;HI574058;HI574060;HI574062;KF456456;L18862;L18864;L18865;L18866;L41657;M13577;M20009;M30047;M30515;M30516;M63599;N20370;NM_001025081;NM_001025090;NM_001025092;NM_001025100;NM_001025101;NM_002385;X17286;XM_005266699;XR_245459;XR_245460;XR_245461;XR_430073;XR_430074 AAA59559;AAA59560;AAA59561;AAA59562;AAA59563;AAA59564;AAA72008;AAA72009;AAA72010;AAA72011;AAC41944;AAH08749;AAH65248;AAH80654;AAI01772;AAI01774;AAI43349;AAI43351;BAC85616;BAC85961;BAD92223;BAF82582;BAG53615;BAG54728;BAG54734;BAG57303;BAH12372;CAA35179;CAG38771;CAG46717;CAH10321;CAH10359;CAJ75954;CBL86565;CBX47515;CBX47516;CBX47517;CBX47518;CBX47519;CBX47520;EAW66592;EAW66593;EAW66594;EAW66595;EAW66596;EAW66597;EAW66598;EAW66599;EAW66600;NP_001020252;NP_001020261;NP_001020263;NP_001020271;NP_001020272;NP_002376;P02686;XP_005266756 Hs.551713 1338181;1656005;1663966;1672314;1673610;1697726;1700308;1722415;1734564;1742147;1742397;1742407;1742939;1755293;1755733;1758739;1774056;1779058;1796306;2111202;2124478;2138456;2151701;2154214;2158026;2165586;2173358;2176382;2181282;2181407;5114746 D18S1097;D18S1220;D18S1250;D18S540E;D18S908E;D18S927E;G60281;GDB:192404;GDB:196611;GDB:196682;GDB:216766;MBP_206;RH102385;RH103774;RH68154;RH71176;SHGC-142185;SHGC-142581;SHGC-150932;SHGC-30049;SHGC-33881;SHGC-4191;SHGC-56482;SHGC-58298;SHGC-8023;SHGC-8076;SHGC-8101;STS-N24137;WI-15134;WI-15273;WI-9286 Golli-MBP;MGC99675 OTTHUMP00000163774;OTTHUMP00000163775;OTTHUMP00000163776;OTTHUMP00000174383;OTTHUMP00000174384;OTTHUMP00000174385;OTTHUMP00000174386;OTTHUMP00000174387;OTTHUMP00000174388;OTTHUMP00000174389;OTTHUMP00000174390;OTTHUMP00000233691;myelin A1 protein;myelin membrane encephalitogenic protein APPROVED protein-coding ENSG00000197971 HGNC:6925 01158 159430 REVIEWED 1348935 MBTD1 mbt domain containing 1 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN chromatin modification (inferred); embryonic skeletal system development (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH calcitriol; cytarabine; formaldehyde 17 17 17 q21.33 45716030 45798621 - 49254786 49337788 - 51177425 51260427 - 1580863;6480464;8554872 12477932;15146197;17573780;19471022;19841675;21145461;23959973;24250222 54799 K7EQ11;Q05BQ5 ABBA01041259;ABBA01041260;ABBA01041261;AC005839;AC006141;AK000062;AK124061;AL133577;AMYH02033615;AMYH02033616;AMYH02033617;AMYH02033618;BC034364;BC101736;BQ022382;BU195532;CH471109;CN310792;NM_017643;XM_005257467;XM_005257468;XM_005257469;XM_005257470;XM_006721961;XM_006721962 AAH34364;AAI01737;BAA90919;BAC85763;EAW94560;EAW94561;EAW94562;NP_060113;Q05BQ5;XP_005257524;XP_005257525;XP_005257526;XP_005257527;XP_006722024;XP_006722025 Hs.656803 1647013 STS-R99923 FLJ20055;FLJ42067;MGC126785;SA49P01 MBT domain-containing protein 1;OTTHUMP00000197374 protein-coding ENSG00000011258 HGNC:19866 14369 VALIDATED 1348934 MC2R melanocortin 2 receptor (adrenocorticotropic hormone) MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014] 18 18 18 p11.2 13762993 13796477 - 13882043 13915535 - 13882044 13915536 - 1580863;1600745;1600747;5144213;6480464;6484138;6484558;6484136;6484693;7240710;8554872;8699517 12213892;19024088;20852827;22183812;2822467;8094489;8110467 10971458;12036966;12456795;12477932;12530626;12620396;1325670;14671214;15062562;15171714;15240582;15489334;15654338;15879363;15982783;16260430;16497811;17223989;17456795;17595257;17712720;17877367;17959886;18197087;18356748;18359160;18492762;18505908;18551113;18818285;18838498;18840636;18981183;19095219;19329486;19372376;19453261;19558534;19574343;19723618;19903795;20022931;20042918;20403506;20590821;20634197;20734064;20962024;21195128;21211532;21367968;21778684;21862608;21920850;22357529;22487832;22842514;23023242;23231661;24224542;8227361;8276410;8390157;8463333;8636348;9020063;9058374;9167964;9175632;9194567;9218248 4158 Q01718;R4GMM0 AB065915;ABBA01074043;AK289381;AK315319;AMYH02034353;AP001086;AY225229;BC069074;BC094710;BC104169;BC104170;BP196054;CH471113;NG_011819;NM_000529;NM_001291911;X65633;Y10259 AAH69074;AAH94710;AAI04170;AAI04171;AAO67714;BAC06130;BAF82070;BAG37722;CAA46587;EAX01503;NP_000520;NP_001278840;Q01718 Hs.248144 1647423;1796308;5492553;7185383 AFMa152wg9;MC2R_927;UniSTS:481610 ACTHR;MGC125798 ACTH receptor;MC2 receptor;OTTHUMP00000162512;adrenocorticotropic hormone receptor;adrenocorticotropin receptor;corticotropin receptor APPROVED protein-coding ENSG00000185231 HGNC:6930 06304 202200;607397 REVIEWED 1353967 MBOAT7 membrane bound O-acyltransferase domain containing 7 This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 19 19 19 q13.4 51718397 51735417 - 54677106 54693733 - 54173412 54189882 - 6480464;6907045;8554872 10941842;12477932;14702039;16344560;18094042;18772128;18931347;19946888;21139048;21890473;21900206;21903422;21963094;21987572;23000965;23251661;23510452;24250222;24816145;8702217;8889548 79143 A9C4B8;C9J4E9;F8WD95;H7C2M4;M0R1Z5;Q96N66 ABBA01068172;AC012314;AC245052;AF211969;AI032483;AK055908;AK122789;AK123290;AK293199;AK298689;AK311493;AW014416;BC002512;BC003164;BC006309;BC015857;BQ045276;BU633996;CB240899;CH471135;CU151838;CU457734;DA338950;EU016381;NG_033045;NM_001146056;NM_001146082;NM_001146083;NM_024298;S82470 AAB37433;AAH02512;AAH03164;AAH06309;AAH15857;ABV66273;ADZ15668;BAB71043;BAG56739;BAG60849;EAW72199;EAW72200;EAW72201;EAW72202;NP_001139528;NP_001139554;NP_001139555;NP_077274;Q96N66 Hs.467279 1681985;1734664;1801578;1804768;1804770;1804950;1806122;1813092;1815738;1819246;1827888;1828238;1833370;1843274;1844090;1854894;1855201;2041560;2041562;2041564;2041566;2041568;2041570;2041572;2041574;2041576;2041578;2041580;2041582;2041584;2041586;2041588;2041590;2041592;2041594;2041596;2041598;2041600;2041602;2041604;2041606;2041608;2041610;2041612;2041614;2041616;2041618;2041620;2041622;2041624;2041626;2041628;2041630;2041632;2041634;2041636;2041638;2041640;2041642;2041644;2041646;2041648;2041650;2041652;2041654;2041656;2041658;2041660;2041662;2041664;2041666;2041668;2041670;2041672;2041674;2041676;2041678;2041680;2041682;2041684;2041686;2041688;2041690;2041692;2041694;2041696;2041698;2103656;2103658;2103660;2103662;2103664;2103666;2103668;2103670;2103672;2103674;2103676;2103678 A003B05;A008T46;D19S668E;ECD01667;ECD03317;ECD03318;ECD03415;ECD04015;ECD07565;ECD08907;ECD10690;ECD15067;ECD15244;ECD17828;ECD22845;ECD23258;REN91815;REN91816;REN91817;REN91818;REN91819;REN91820;REN91821;REN91822;REN91825;REN91826;REN91827;REN91828;REN91829;REN91830;REN91831;REN91832;REN91833;REN91834;REN91835;REN91836;REN91837;REN91838;REN91839;REN91840;REN91841;REN91842;REN91843;REN91844;REN91845;REN91846;REN91847;REN91848;REN91849;REN91850;REN91851;REN91852;REN91853;REN91854;REN91855;REN91856;REN91857;REN91858;REN91859;REN91860;REN91861;REN91862;REN91863;REN91864;REN91865;REN91866;REN91867;REN91868;REN91869;REN91870;REN91871;REN91872;REN91873;REN91874;REN91875;REN91876;REN91877;REN91878;REN91879;REN91880;REN91881;REN91882;REN91883;REN91884;REN91885;REN91886;RH93451;stSG605847;stSG605848;stSG605849;stSG605850;stSG605851;stSG605852;stSG605854;stSG605855;stSG605856;stSG605857;stSG605858;stSG605860 BB1;FLJ41296;LENG4;LPLAT 7;LRC4;MBOA7;OACT7;h-mboa-7;hMBOA-7 1-acylglycerophosphatidylinositol O-acyltransferase;LPIAT;O-acyltransferase domain-containing protein 7;OTTHUMP00000069334;OTTHUMP00000069335;OTTHUMP00000069336;OTTHUMP00000197707;bladder and breast carcinoma-overexpressed gene 1 protein;leukocyte receptor cluster (LRC) member 4;leukocyte receptor cluster member 4;lyso-PI acyltransferase;lysophosphatidylinositol acyltransferase;lysophospholipid acyltransferase 7;malignant cell expression-enhanced gene/tumor progression-enhanced;membrane-bound O-acyltransferase domain-containing protein 7 APPROVED protein-coding ENSG00000125505 HGNC:15505 06925 606048 REVIEWED 732575 MBTPS1 membrane-bound transcription factor peptidase, site 1 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014] 16 16 16 q24 68389268 68452435 - 84087368 84150517 - 84053763 84116912 - 1580863;2317203;6480464;6907045 19933148 10428864;10428865;10619424;10644685;10944850;11152678;11163209;11756446;11821395;12477932;14702039;15299016;15489334;16973377;17124500;17867930;17898072;18029348;18343183;18400865;18660489;19729656;19913121;20467438;20558613;20628086;21568902;21719679;21805236;21805237;21890473;21900206;21906983;22679642;23360427;23536681;23775089;23884247;24464131;7788527;9070434;9139737;9809072;9990022 8720 H3BS61;H3BU75;H3BV53;Q14703 ABBA01016920;AC040169;AK054744;AK091212;AK291773;AK299067;AL133583;AL701753;AMYH02032560;AMYH02032561;BC026330;BC114555;BC114961;BM048055;BM680126;BP364386;BX472644;CH471114;D42053;NG_033017;NM_003791 AAI14556;AAI14962;BAA07653;BAF84462;BAG52308;BAG61133;CAB63727;EAW95505;EAW95506;NP_003782;Q14703 Hs.75890 1737303;1740099;1762511;1765027;1778420;1850429;2114554;2116970;2159287;2166209;5093286;5124180 A009A27;A009K43;D16S2645;D16S2940;D16S3012;G32629;RH25319;SHGC-146327;SHGC-148572;SHGC-60638;SHGC-60819;SHGC-61039 KIAA0091;MGC138711;MGC138712;PCSK8;S1P;SKI-1 OTTHUMP00000174991;endopeptidase S1P;membrane-bound transcription factor protease, site 1;membrane-bound transcription factor site-1 protease;proprotein convertase subtilisin/kexin type 8;site-1 protease;subtilisin/kexin isozyme-1;subtilisin/kexin-isozyme 1 APPROVED protein-coding ENSG00000140943 HGNC:15456 04522 603355 REVIEWED 1342985 MBTPS2 membrane-bound transcription factor peptidase, site 2 This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009] X X X p22.12-p22.11 25979352 26025249 + 21857656 21916427 + 21839538 21885423 + 1580863;2317203;6480464;6907045;7240710;8554872;8699517 19933148 10419520;10805775;11163209;11795864;11850408;12477932;14702039;15299016;15772651;18660489;19361614;19689518;20672378;20854407;21315478;21426410;21963094;22816986;22931912;23316014;23571157;9659902;9847074 51360 B9ZVQ3;O43462 ABBA01072004;ABBA01072005;ABBA01072006;ABBA01072007;ABBA01072008;ABBA01072009;ABBA01072010;AF019612;AK056736;AK292933;AK307143;AK312474;AMYH02039001;AMYH02039002;AMYH02039003;AW204540;AW664372;BC036465;BX489533;CH471074;DC338559;KF459022;KF459025;NG_012797;NM_015884;U72788;U73479 AAC51937;AAD08631;AAD08632;BAF85622;EAW98982;NP_056968;O43462 Hs.443490 1645111;1739919;2140376;2140378;2141454;2152028;2166097;2168624;2170703;2174087;5037552 A008R38;D8S2279;DXS6998E;DXS7157;DXS7480;DXS7577;DXS7674;DXS8242;DXS8252;SGC30434;WI-17374 FLJ32174;IFAP;KFSD;KFSDX;OLMSX;S2P BRESEK;OTTHUMP00000023046;OTTHUMP00000023047;SREBPs intramembrane protease;endopeptidase S2P;keratosis follicularis spinulosa decalvans;membrane-bound transcription factor protease, site 2;membrane-bound transcription factor site-2 protease;sterol regulatory element-binding proteins intramembrane protease APPROVED protein-coding ENSG00000012174 HGNC:15455 02243 300294;300918;308205;308800 REVIEWED 732421 MC5R melanocortin 5 receptor This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010] 18 18 18 p11.2 13706729 13708047 + 13825543 13826861 + 13825544 13826862 + 1580863;1626222;1626223;5144213;6480464;6484138;8554872 20852827;22183812;9392003;9512481 11286624;11606131;12036966;12477932;15470082;15489334;16314755;17482720;18551113;19329486;19428994;19502010;19913121;20468064;20628086;21602033;22871966;23414113;7739752;7956366;8185570;8396929;8932521;9058374;9240466;9892020 4161 K7ER30;P33032 ABBA01074042;AMYH02034353;AP001525;AY268429;BC069153;BC069545;BC095531;CH471113;EF444993;L27080;NM_005913;U08353;Z25470 AAA59566;AAB60376;AAH69153;AAH69545;AAH95531;AAP23196;ACA06012;CAA80962;EAX01504;NP_005904;P33032 Hs.248145 1684000;2191621;5492115;5492517 MARC_28657-28658:1062515202:1;MC5R;RH71364;UniSTS:481427 MC2 OTTHUMP00000162511;melanocortin receptor 5;melanocortin-5 receptor 1643084;2316326 BW114_H;GLUCO230_H APPROVED protein-coding ENSG00000176136 HGNC:6933 08965 600042 REVIEWED 735547 MBL2 mannose-binding lectin (protein C) 2, soluble This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008] 10 10 10 q11.2 47788072 47794392 - 54525140 54532578 - 52760860 52772818 - 1582151;1582150;1582153;1582154;1582155;1580863;4889447;4889459;4889436;4889467;4889478;4889479;4889496;4889579;4889421;4889155;4889443;4889477;4889425;4889433;4889448;4889453;4889458;4889456;4889476;4889156;4889446;4889484;4889439;4889577;4889452;4889483;6480464;6903268;6903260;6903263;6903267;6903262;6903266;6903259;6903261;6907045;7240710;8694068;8693746;8693723;8693725;8693716;4889482;8693748;8693700;8693720;8693721;8693711;8693694;8694069;8693758;8694071;8693709;8693752;8693728;8693744;5147979;8693703;8693705;8554872;8693726;8693692;8693727;8693724;8693695;8693750;8693755;8693717;8693722 10449435;10652157;11474427;11561111;12047967;12375325;12485445;15144709;15249448;15295097;15498041;15509537;15693089;15730518;15790942;15838797;15882434;16385529;16487239;16750996;16801331;16879250;16955210;17133182;17202308;17311505;17335555;17337399;17357060;17470593;18582923;18637104;18641104;18831943;18988662;19083122;19104434;19169708;19199550;19330263;19411612;19416237;19467940;19480845;19593977;19715891;19767106;19804807;19959685;19997692;20064561;20068595;20568383;20642202;20650301;20688922;20712489;21054877;21327568;21510992;22335808;22360648;22444663;22512728;22995279;23113841;23144819;23246423;24721319;9631454 10368295;10447262;10578050;10639434;10725420;10878362;10888598;10925294;11023480;11145046;11196679;11196698;11255386;11274270;11302870;11361219;11393663;11485744;11487077;11532276;11549596;11560994;11564800;11712863;11737072;11781711;11804586;11891230;11906616;11986203;12175909;12370377;12393699;12421953;12439623;12472676;12477932;12487819;12492252;12517417;12560567;12595908;12640191;12641410;12648279;12651071;12672193;12699957;12715245;12761563;12770793;12847552;12918709;12921293;12934195;12941144;12957407;1303250;1304173;14564351;14582818;1458688;14669753;14739370;14764589;14994386;15061663;15101708;15117456;15127191;15148336;15148337;15161763;15254284;15292002;15306844;15381182;15381817;15467537;15472209;15480986;15488604;15489334;15516675;15535834;15572157;15592292;15627619;15645196;15647440;15653690;15674393;15697204;15723707;15728497;15742161;15753758;15829288;15829302;15853952;15855341;15857180;15888042;15989776;15994813;16006058;16029433;16034120;16046196;16083697;16094691;16099048;16099912;16102832;16105157;16110781;16112196;16115848;16152689;16170752;16178865;16185324;16200716;16208516;16214215;16216673;16220211;16231358;16256117;16320344;16369192;16385451;16429424;16439442;16476012;16500704;16517152;16522396;16553818;16677572;16681863;16721783;1672848;16729310;16738667;16751976;1675710;16792667;16827883;16856624;16911830;16912583;16916656;16951387;16953214;16960176;17014624;17044201;17045187;17071626;17072973;17083310;17083312;17092257;17096357;17157384;17174748;17178888;17195187;17222001;17259116;17266113;17275645;17289451;17303612;17314117;17380431;17419286;17439930;17442667;17442954;17478467;17480019;17482281;17484222;17496053;17513174;17552055;17554527;17559949;17565323;17567900;17610319;17610322;17626901;17634432;17651383;17652092;17653692;17659761;17665457;17678865;17703412;17763324;17845414;17846289;17848669;17855170;17869647;17872904;17875183;17896801;17898783;17921115;17922403;17942155;17942372;17990579;18029348;18031556;18052966;18082567;18091754;18166320;18174230;18177377;18192915;18194386;18209939;18211540;18214570;18221301;18231631;18288881;18292811;18317236;18322223;18334024;18336595;18347304;18348874;18361935;18361938;18368489;18374983;18396436;18400978;18415846;18452612;18455525;18478332;18486762;18494378;18495592;18496832;18498240;18543229;18552214;18562462;18592362;18596036;18602571;18602696;18611155;18612667;18633131;18637753;18676680;18700861;18715406;18727690;18729778;18754287;18782274;18818748;18823346;18847375;18927129;18936436;18950864;18952132;18957309;18988385;19019335;19021583;19035512;19050632;19056797;19057812;19064572;19073229;19086549;19094203;19139195;19143554;19161617;19170196;19185543;19238444;19252378;19258923;19273450;19275921;19276308;19286845;19307021;19328949;19336370;19344414;19352197;19366862;19371855;19380618;19408100;19423540;19425063;19430499;19432958;19465640;19466271;19468207;19477015;19481774;19501100;19517215;19527514;19540295;19557622;19580835;19590686;19606686;19625176;19657091;19692168;19703233;19709662;19711212;19716183;19729601;19738092;19775369;19789190;19790141;19796526;19796822;19817957;19827946;19833760;19840833;19853314;19854517;19879913;19891773;19896716;19913121;19917506;19939454;19969625;20022898;20038440;20042521;20056178;20065005;20078874;20079790;20087947;20110521;20127985;20132924;20140243;20150204;20172753;20182871;20193030;20196868;20207250;20237496;20298391;20331378;20331735;20334849;20351616;20356797;20374367;20406964;20408832;20438785;20442634;20443743;20452482;20453525;20463618;20499118;20503287;20504205;20522590;20570631;20573835;20592033;20593422;20595266;20598754;20605050;20610664;20618520;20628086;20636396;20673868;20682603;20693349;20712490;20732365;20799037;20833838;20848568;20881011;20887383;20930093;21045008;21054788;21088049;21091907;21106539;21142772;21171930;21182784;21192229;21194488;21203938;21211797;21281477;21334396;21394075;21488869;21496252;21536088;21544638;21554230;21557458;21592999;21640628;21655939;21681178;21695215;21702710;21707593;21722964;21729275;21733090;21893516;21895981;21911261;21920399;21974696;22002015;22019001;22022564;22050689;22050925;22082351;22131319;22134613;22172537;22173059;22183303;22206649;22215653;22221294;22225939;22247351;22258234;22282660;22296677;22301353;22302853;22331020;22363494;22377282;22380611;22441636;22504420;22523362;22578937;22607836;22633170;22650645;22673492;22674410;22762710;22774989;22813781;22820623;22848725;22882323;22938690;22974720;22994203;23000376;23000377;23062612;23065234;23073041;23094532;23172101;23225056;23289185;23326517;23348713;23417614;23423485;23439277;23448728;23524205;23563916;23592124;23602874;23637788;23662819;23711995;23741476;23750697;23806468;23861212;23865867;23911397;24035792;24045948;24047736;24086711;24116040;24126531;24134411;24182802;24227370;24255984;24321303;24339961;24376633;24391218;24391778;24429128;24430505;24453114;24472859;2450948;2477486;2477488;24861434;24886325;2590164;7634089;7707811;7982896;8062452;8206524;8267903;8666845;9087411;9476117;9570553;9743385;9799711 4153 P11226 AB025350;ABBA01052515;AF080508;AF080510;AF360991;AF482699;AF482700;AL583855;AL731550;AMYH02023091;AY826184;BC069338;BC096179;BC096180;BC096181;BC096182;CH471083;CS251180;DQ217939;EU596574;JA630840;JA638704;JA638769;JA638834;JA672739;JA878796;JA883833;JA883898;JB259210;NG_008196;NM_000242;X15422;X15954;XM_005269844;XM_006717860;XM_006717861;XM_006717862;Y16576;Y16577;Y16578;Y16579;Y16580;Y16581;Y16582 AAC31937;AAH69338;AAH96179;AAH96180;AAH96181;AAH96182;AAK52907;AAN39274;AAN39275;AAV80468;ABB01009;ACC62880;BAB17020;CAA33462;CAA34079;CAB56044;CAB56045;CAB56120;CAB56121;CAB56122;CAB56123;CAB56124;CAJ58412;CCE53522;CCE67084;CCE67089;CCE67094;CCF12075;CCQ77659;CCQ77665;CCQ77670;CDH61700;EAW54148;EAW54149;NP_000233;P11226;XP_005269901;XP_006717923;XP_006717924;XP_006717925 Hs.499674 1651811;1714157;1742247;1796304;2113944;2159362;2170803;2178353;2178604 D10S1570;D10S2146;G10512;GDB:193870;MBL2;MBL2_461;RH119687;STS-X15422;STS-X15955 COLEC1;HSMBPC;MBL;MBL2D;MBP;MBP-C;MBP1;MBPD;MGC116832;MGC116833 OTTHUMP00000019622;collectin-1;mannan-binding lectin;mannose-binding lectin (protein C) 2, soluble (opsonic defect);mannose-binding lectin 2, soluble (opsonic defect);mannose-binding protein C;mannose-binding protein c (liver) APPROVED protein-coding ENSG00000165471 HGNC:6922 01107 154545;614372 REVIEWED 1345990 MC3R melanocortin 3 receptor This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008] 20 20 20 q13.2-q13.3 51563099 51564182 + 54823788 54824871 + 56248732 56249815 + 1625179;1580863;1625178;5144213;6480464;6484138;6484587;7240710;1331525;8554872 11889220;15118671;16123355;17192297;20852827;22183812 11140838;11397906;11747427;11780052;12036966;12047904;12077332;12142547;12161058;12477932;12532156;15276649;15292330;15470082;15489334;15582585;15597110;15636422;15927146;16314751;16430209;17041250;17207965;17413091;17482720;17639020;17964765;18180070;18231126;18291523;18420963;18551113;18577758;18614155;18996102;19058789;19091795;19329486;19367093;19656839;19743876;20144537;20468064;20538960;20539302;20602615;20734064;20882712;20972733;21047972;21050724;21368909;21695122;21920079;21983807;22079958;22327910;22433616;22884546;23264184;23280863;23323615;23497691;23827504;24142065;7949735;8175743;8276410;8463333;8957262;9058374;9213373;9237634;9276742;9658201;9893984 4159 P41968 ABBA01052890;AL139824;AMYH02037337;AY227893;BC069105;BC069591;BC069599;BC096702;BC096737;BC098169;BC098351;CH471077;CS248086;L06155;NG_012200;NM_019888 AAC13541;AAH69105;AAH69599;AAH96702;AAH96737;AAH98169;AAH98351;AAO72726;ADQ31958;CAJ56570;EAW75566;NP_063941;P41968 Hs.248018 1340050;1741231;1796310;5493983 D20S438;GDB:178876;MC3R_1509;UniSTS:480643 BMIQ9;MC3;MC3-R;OB20;OQTL OTTHUMP00000031326;Obesity quantitative trait locus;melanocortin receptor 3 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;1643376;1643383;1643385;1643396;2289429;2289431 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;BW305_H;BW306_H;BW311_H;BW312_H APPROVED protein-coding ENSG00000124089 HGNC:6931 01115 155540;602025;607948 REVIEWED 1607045 MCAT malonyl CoA:ACP acyltransferase (mitochondrial) The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012] 22 22 22 q13.31 27438586 27449778 - 43528212 43539403 - 43132206 43143397 - 6480464;6907045 10591208;12477932;12529303;12882974;15489334;16344560;16434556;16806233;17000644;18781797;19767753;20186120;20564319;20877624;22939629;24654937 27349 Q8IVS2;V9GYY6 AA402283;ABBA01017908;AI811069;AK314059;AL022237;AL359401;AL359403;AMYH02038471;BC030985;BC042195;BI464466;BX111669;CA422238;CH471138;DB306307;NM_014507;NM_173467;NR_046423 AAH30985;AAH42195;BAG36765;CAA18261;CAB94789;CAB94790;CAQ07851;EAW73286;EAW73287;NP_055322;NP_775738;Q8IVS2 Hs.349111 1338422;1752703;2109535;2127706;2150679 D22S1151;MT_9553;SHGC-106512;STS-AA022736;WI-17858 FASN2C;MCT;MGC47838;MT;NET62;fabD OTTHUMP00000198291;OTTHUMP00000198292;[Acyl-carrier-protein] malonyltransferase;malonyl-CoA-acyl carrier protein transacylase, mitochondrial;malonyl-CoA:acyl carrier protein transacylase, mitochondrial;mitochondrial malonyl CoA:ACP acyltransferase;mitochondrial malonyltransferase APPROVED protein-coding ENSG00000100294 HGNC:29622 14786 614479 REVIEWED 1351997 MCC mutated in colorectal cancers This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q21 108303413 108772341 - 112357796 112824527 - 113022099 113488830 - 1300441;1580863;6480464;7240710;8699517;8554872 1848370 11076863;11173969;11230166;12477932;1315124;14702039;14743216;15123239;15489334;15489336;16381901;1651563;17353931;18029348;1846539;18591935;19555689;19851296;20198315;20308991;20360068;20379614;20889312;21279955;21326311;21832049;21900206;21988832;22213290;22480440;22542170;23455922;23913442;24483146;8012355;8626604;8889548 4163 D6REY2;P23508 ABBA01069045;ABBA01069046;ABBA01069047;ABBA01069048;AC008536;AC010431;AC079465;AC093208;AC106750;AC126917;AK096212;AK128596;AK300259;AL359558;AMYH02011979;AMYH02011980;AMYH02011981;AMYH02011982;AMYH02011983;BC009279;BC018919;BC043431;BX537952;BX647710;CF887436;CH471086;CR749713;KC877092;KF457973;KF457974;M62397;NG_012265;NM_001085377;NM_002387;XM_005271991;XM_006714617 AAA52069;AAH09279;AAH18919;ACE86745;ACE87431;BAC87521;BAG53232;BAH13246;CAD97919;CAL38488;EAW48984;EAW48985;EAW48986;EAW48987;NP_001078846;NP_002378;P23508;XP_005272048;XP_006714680 Hs.593171 1338667;1341408;1653560;1655923;1661738;1675874;1710220;1711286;1722935;1724753;1726297;1732171;1735480;1737953;1740367;1741541;1741889;1742435;1750405;1751391;1755571;1780904;1785246;1785374;1846947;2107331;2112172;2115685;2127039;2134267;2161073;2177215;5022576;7186613 AFMB359YB5;D11S3562;D1S1361;D5S1170;D5S1600E;D5S2001;D5S2194E;D5S2770;D5S585;D5S656;G16907;G60565;G62449;GDB:181466;GDB:186555;GDB:196992;L28379;MCC__7383;RH122583;RH69379;RH94304;SHGC-102579;SHGC-105238;SHGC-112582;SHGC-12754;SHGC-141190;SHGC-142425;SHGC-83739;SHGC-89294;STS-M62397;STS-N27832;WI-18946;bac53226S DKFZp762O1615;FLJ38893;FLJ46755;MCC1 OTTHUMP00000159017;OTTHUMP00000222860;OTTHUMP00000222861;OTTHUMP00000223206;colorectal mutant cancer protein APPROVED protein-coding ENSG00000171444 HGNC:6935 01157 114500;159350 REVIEWED 1352481 MCCD1 mitochondrial coiled-coil domain 1 FOUND IN mitochondrion (inferred) 6 6 6 p21.33 33094977 33096246 + 31496739 31498008 + 31528962 31530231 + 12477932;14527716;14574404;19115949;19851445;20379614;20854863 401250 P59942 ABBA01038080;AL662801;AL662847;AL663061;AMYH02013452;BC132994;BC132996;BN000141;BX001040;BX248516;BX682535;BX927320;CR753820;CR753864;CT009531;NM_001011700 AAI32995;AAI32997;CAD71139;NP_001011700;P59942 Hs.558922 1689300;1706756 RH1521;SHGC-80845 OTTHUMP00000165898;mitochondrial coiled-coil domain protein 1 protein-coding HGNC:20668 17470 609624 VALIDATED 732868 MCAM melanoma cell adhesion molecule INVOLVED IN glomerular filtration; vascular wound healing; ASSOCIATED WITH Pulmonary Disease, Chronic Obstructive; Uveal melanoma; Emphysema (ortholog); FOUND IN external side of plasma membrane; focal adhesion; INTERACTS WITH 17beta-estradiol; acetylsalicylic acid; aflatoxin B1 11 11 11 q23.3 116339434 116348037 - 119179234 119189087 - 119308524 119318377 - 1580863;6480464;7364782;7364787;7364780;7364775;7364777 10076889;19958117;23621518;23649916;24023647 10211875;10451481;10687524;10702685;10726166;10756096;11036077;11329371;11536311;11709656;11722842;11848444;12406332;12477932;12496470;12771231;14534536;14597988;14702039;15231748;15489334;15610525;15897668;16098047;16204154;16541130;16570276;16804906;16835268;16969099;17081983;17320204;17490776;17545460;17786470;17872908;17982057;18029348;18160586;18175063;18604730;18834073;18922915;19029148;19034879;19123925;19200179;19221091;19229070;19703903;19782948;20067117;20127798;20448216;20589320;20657552;21095067;21139048;21239604;21334670;21415267;21450088;21467165;21725352;21804459;21906983;21959269;21963094;21987572;22051146;22057013;22076922;22088599;22311021;22399604;22610942;22635231;22718841;22801967;22826148;22939629;22952755;22975388;23000965;23108590;23223580;23256918;23266426;23333866;23389031;23412095;23670160;23712706;23738744;23749325;23878390;24139427;24188055;24204598;24335906;24473396;24561123;2602381;8162602;8292890;8378324;8573133;9036955;9462829;9730695;9756930 4162 P43121 AB209925;ABBA01039674;AF089868;AJ297452;AK126303;AK128335;AK291571;AK312430;AMYH02025665;AP002956;AU076908;BC056418;CH471065;JA738581;KC877491;M28882;M29277;NM_006500;X68264;X68271;XM_005271551;XM_005271552;XM_006718836;XM_006718837;XM_006718838 AAA20824;AAA20922;AAD17799;AAH56418;ACE87805;ACT64464;BAC86520;BAD93162;BAF84260;BAG35339;BAG54661;CAA48332;CAB97348;CCF76943;EAW67477;EAW67478;NP_006491;P43121;XP_005271608;XP_005271609;XP_006718899;XP_006718900;XP_006718901 Hs.599039 1665265;2115084;2129326;2134013;5021347;5121142;5123718;5123720 A002O48;G15959;G15978;MARC_15973-15974:1016732079:3;RH47288;RH78313;SGC35254;STS-M29277 CD146;MUC18 Gicerin;OTTHUMP00000232151;S-endo 1 endothelial-associated antigen;cell surface glycoprotein MUC18;cell surface glycoprotein P1H12;l-gicerin;melanoma adhesion molecule;melanoma-associated antigen A32;melanoma-associated antigen MUC18 protein-coding ENSG00000076706 HGNC:6934 01120 155735 VALIDATED 1352586 MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta) This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008] 5 5 5 q12-q13 66778848 66850229 + 70883115 70954533 + 71587288 71658706 + 1580863;2316864;6480464;6907045;7240710;8554872;8699517 11170888 11181649;11401427;11406611;12477932;14702039;15146197;15489334;16010683;16023992;17360195;17876819;17968484;18457437;19380743;19851296;20186120;20198315;20301313;20811636;20877624;21071250;21139048;21145461;21642987;21906983;22150417;22264772;22939629;23752268;23798571;24244333;24583282;24654937 64087 D6R9R1;D6RD67;D6RDF7;Q9HCC0 AB050049;AB050050;ABBA01061895;ABBA01061896;ABBA01061897;AC138832;AC143336;AF261884;AF301000;AF310971;AK025591;AK090834;AK310194;AL079298;AMYH02011548;BC014897;BC065027;CH471084;CN309723;NG_008882;NM_022132;XM_005248567 AAG53094;AAH14897;AAH65027;AAK16404;AAK49409;BAB16880;BAB41121;BAG52236;CAB45194;EAW95691;EAW95692;EAW95693;NP_071415;Q9HCC0;XP_005248624 Hs.604789 1682684;1693572;1725469;1740375;1774239;2142300;5022651;5094969 D11S2921;D5S2198E;G09869;MCCC2;RH119130;RH93252;SHGC-34463;SHGC-58479 MCCB 3-methylcrotonyl-CoA carboxylase 2;3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit;3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta;MCCase subunit beta;OTTHUMP00000222178;OTTHUMP00000222180;biotin carboxylase;methylcrotonoyl-CoA carboxylase beta chain, mitochondrial;methylcrotonoyl-Coenzyme A carboxylase 2 (beta);non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase APPROVED protein-coding ENSG00000131844 HGNC:6937 01952 210210;609014 REVIEWED 733058 MC4R melanocortin 4 receptor The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010] 18 18 18 q22 54756638 54758075 - 58038564 58040001 - 60371331 60372768 - 1600752;1600756;1580863;1600755;1331525;1600750;1357925;1626222;5144213;6480464;6484233;6484144;6484214;6484138;6484557;6484229;6484113;6478803;7240710;6484210;8554872;8699517 11443223;12588803;12646665;12646666;15118671;15189116;20081244;20371568;20852827;21343543;21527895;21779089;21985621;22183812;9019399;9392003 10199800;10318826;10585465;11101306;11487744;11692184;11747427;11823452;11912210;12015205;12032748;12036966;12045190;12140789;12165561;12244039;12364415;12477932;12499395;12620396;12629567;12639913;12690102;12732337;12815165;12959994;12970296;13678297;14504270;14523020;14531729;14633862;14671178;14764812;14764818;14973783;15037865;15126516;15215606;15292469;15448103;15466016;15470082;15486053;15489334;15489963;15533382;15585384;15597110;15805150;15821099;15865442;15927146;15951321;16030156;16032553;16081629;16083993;16114870;16231025;16278267;16279363;16344560;16459314;16507637;16611215;16614075;16710097;16820227;16886960;17041250;17185898;17286227;17322114;17356525;17376547;17418015;17445027;17482720;17492953;17517245;17519222;17545153;17579204;17587397;17590021;17668051;17713970;17822895;17941900;17986382;18029348;18239646;18377640;18454146;18454148;18461507;18551113;18559663;18682847;18697794;18777518;18779298;18801902;18809499;18835933;18974267;18992263;18996102;18997677;19011902;19016587;19050674;19058789;19073769;19077438;19079260;19079261;19091795;19092146;19151714;19153581;19164386;19184404;19207921;19214805;19244934;19255736;19265794;19283510;19284607;19298524;19301229;19303903;19329486;19367093;19463742;19470880;19491387;19557197;19629057;19668254;19680233;19692490;19696756;19737927;19741604;19743876;19746409;19794065;19803416;19812171;19844209;19851340;19880856;19889825;19906786;19913121;20007308;20070976;20092643;20147580;20161779;20181787;20214954;20215397;20215774;20220015;20374728;20386550;20397748;20400458;20406574;20421936;20468064;20520848;20530052;20538960;20571754;20580033;20600126;20616199;20628086;20631012;20682687;20686565;20696697;20703240;20712903;20724581;20725061;20733583;20734064;20816152;20816195;20843981;20881960;20935630;20957447;20966902;20966905;20975296;21046283;21047921;21063808;21085626;21094029;21207518;21211532;21222259;21283731;21303735;21347432;21404042;21544599;21625854;21719532;21720444;21729752;21736789;21738238;21750520;21818152;21822216;21921652;21935397;21976721;21988832;22013104;22020349;22106157;22310352;22327910;22344221;22350153;22447289;22463805;22466342;22492873;22544740;22566560;22605619;22688572;22695173;22724641;22822657;22869321;22989167;23014838;23014839;23049848;23054017;23088915;23124548;23130628;23146882;23147118;23151679;23159449;23185251;23201545;23211571;23251400;23263486;23277235;23284998;23318717;23447422;23460509;23493066;23505181;23512951;23563607;23563609;23669352;23727064;23740648;23762205;23895708;23920449;24040077;24064335;24066140;24091943;24097068;24139164;24348519;24512492;7854347;7949735;8392067;8794897;9058374;9763669;9771698;9771699 4160 P32245 ABBA01056177;AC091576;AK314130;AMYH02034846;AY236539;BC069172;BC101802;BC111992;CH471096;DA362673;L08603;NG_016441;NM_005912;S77415 AAA35791;AAB33341;AAH69172;AAI01803;AAI11993;AAO92061;BAG36820;EAW63105;NP_005903;P32245 Hs.532833 1743953;1790315;1794070;1794072;1794454;1794456;1794458;1794460;1794462;1794470;2106543;2170651;5492615;5492927 GDB:378002;MC4R;MC4R_4126;PMC310777P6;PMC310777P7;PMC314306P1;PMC314306P2;PMC314306P3;PMC314306P4;PMC314306P5;PMC314308P1;RH70223;UniSTS:481806;UniSTS:483261 MC4-R;MGC126851;MGC138197 OTTHUMP00000163654;melanocortin receptor 4 1643312;1643553;1643573;1643583;2289640 ACTIV1_H;ACTIV2_H;BW246_H;BW510_H;FOCO1_H APPROVED protein-coding ENSG00000166603 HGNC:6932 01116 155541;601665 REVIEWED 1342844 MCDR1 macular dystrophy, retinal, 1 (North Carolina type) ASSOCIATED WITH Macular dystrophy, retinal, 1, North Carolina type (inferred) 7240710 4167 HGNC:6939 136550 6482155 MCCD1P1 mitochondrial coiled-coil domain 1 pseudogene 1 6 6 p22.1-p21.33 29875560 29876422 - 29907783 29908645 - 100048903 ABBA01038039;AL645935;AL845454;AL928614;AMYH02013425;BX284699;BX927141;CR388220;CR759913;CT009517;NG_032195 pseudo HGNC:33449 INFERRED 1345546 MCDR2 macular dystrophy, retinal 2 ASSOCIATED WITH Cone-Rod Dystrophy 12 (inferred); Macular Dystrophy, Retinal, 2 (inferred); Retinitis Pigmentosa 41 (inferred) 7240710 317667 HGNC:18438 603786;608051;612095;612657 1348819 MCDR3 macular dystrophy, retinal 3 ASSOCIATED WITH MACULAR DYSTROPHY, RETINAL, 3 (inferred) 7240710 317668 HGNC:20206 608850 1604975 MCEMP1 mast cell-expressed membrane protein 1 This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 7613125 7615901 + 7741943 7744719 + 7677057 7679833 + 6480464;8554872 12477932;15489334;15953541;23383108 199675 M0R0S5;Q8IX19 ABBA01010892;AC008763;AF461155;AF461156;AMYH02035405;BC035847;BC104796;BC104798;CA309750;CH471139;NM_174918 AAI04797;AAI04799;AAO15597;AAO15598;EAW69013;EAW69014;NP_777578;Q8IX19 Hs.709539 C19orf59;MGC132456 APPROVED protein-coding HGNC:27291 14119 609565 REVIEWED 1320595 MCEE methylmalonyl CoA epimerase The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 71187499 71208089 - 71336806 71357394 - 71109676 71130264 - 6480464;6907045;7240710;8554872;8699517 11481338;12477932;15489334;16697227;16752391;16843692;17823972;20301334;20301409;20877624;21832049 84693 F5GZ54;H7BZS7;Q96PE7 AB209469;ABBA01075549;AC007881;AF364547;AI033764;AMYH02004048;BC020825;BM271757;CH471053;NG_008977;NM_032601;XM_005264613;XM_006712120 AAH20825;AAK52052;AAY14749;ABM82301;ABM85479;BAD92706;EAW99778;NP_115990;Q96PE7;XP_005264670;XP_006712183 Hs.94949 1767936;5015961;5016478;5020740;5022578;5024761;5037552 D15S1477;D1S1423;D8S2279;GDB:434012;L17809;RH36905;RH45964 GLOD2 DL-methylmalonyl-CoA racemase;OTTHUMP00000160122;glyoxalase domain containing 2;methylmalonyl-CoA epimerase, mitochondrial APPROVED protein-coding ENSG00000124370 HGNC:16732 12229 251120;608419 REVIEWED 6483488 MCCD1P2 mitochondrial coiled-coil domain 1 pseudogene 2 6 6 p21.33 29962919 29963091 - 29995142 29995314 - 100048924 ABBA01038041;AL645935;AL671277;AL845454;AMYH02013426;BX005091;BX927229;CR388205;CR759763;CR759943;NG_032719 BPG309N1.16 pseudo HGNC:33462 INFERRED 1321620 MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha) This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008] 3 3 3 q27 181167501 181251735 - 182733006 182817373 - 183015218 183099585 - 1580863;6480464;6907045;7240710;8554872;8699517 11170888;11181649;11401427;11406611;12477932;14702039;1517917;15489334;16010683;16023992;17360195;17968484;18029348;19339287;19706617;20301313;20379614;20877624;21071250;21139048;21145461;21292315;21642987;21738487;22150417;22189597;22264772;22939629;23496138;24078573;24457600;24816145;25027693 56922 E9PG35;E9PHF7;F2Z2Z7;F2Z3E2;F5GYT8;F8WDI3;F8WF46;G5E9X5;Q96RQ3 AB029826;AB209737;ABBA01058485;ABBA01058486;ABBA01058487;AC104641;AC108741;AF297332;AF310339;AF310972;AK023051;AK098411;AK294882;AK295293;AK316428;AL442091;AL532496;AL556872;AMYH02008276;BC004187;BC004214;BC036395;BC042453;BF795651;CH471052;CR749608;DA487016;NG_008100;NM_001293273;NM_020166;NR_120639;NR_120640;XM_006713702;XR_241502 AAG50245;AAG53095;AAH04187;AAH04214;AAK67986;BAA99407;BAB14377;BAD92974;BAG57977;BAG58277;BAH14799;CAH18403;EAW78339;EAW78340;NP_001280202;NP_064551;Q96RQ3;XP_006713765 Hs.47649 1690179;1714807;1793180;2147188;2167715;5022450 D10S275;PMC199271P1;RH120070;RH36308;RH99319;SHGC-57632 DKFZp686B20267;FLJ25545;MCC-B;MCCA 3-methylcrotonyl-CoA carboxylase 1;3-methylcrotonyl-CoA carboxylase biotin-containing subunit;3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha;MCCase subunit alpha;OTTHUMP00000212827;OTTHUMP00000212828;OTTHUMP00000212829;OTTHUMP00000212832;methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial;methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) APPROVED protein-coding ENSG00000078070 HGNC:6936 01951 210200;609010 VALIDATED 1352917 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; paracetamol 3 3 3 q27.1 181330990 181581485 - 182895831 183146031 - 183178004 183428269 - 1580863;6480464;8554872 10048485;12421765;12477932;16344560;18259684;19343720;19648752;20379614;20667095 23101 C9J326;Q86YR7 AB020668;ABBA01058480;ABBA01058481;ABBA01058482;ABBA01058483;ABBA01058484;ABBA01058485;AC069417;AC092960;AC104641;AC112647;AK124500;AK301698;AK310962;AMYH02008278;AMYH02008279;AMYH02008280;AMYH02008281;AMYH02008282;AMYH02008283;AMYH02008284;AMYH02008285;AY172737;BC029074;BC064632;BM920156;BX647790;BX648525;BX649003;CH471052;DA300306;DA348492;DR000125;NM_015078 AAH29074;AAH64632;AAO19651;BAA74884;BAC85866;BAG63170;EAW78329;EAW78330;EAW78331;EAW78332;NP_055893;Q86YR7 Hs.208267 1654658;1664271;1686630;1704270;1784706;5014051;5022578;5022651;5024039;5037552;5112017;5118624 D11S2921;D11S3492;D16S325;D1S1423;D8S2278;D8S2279;G44365;RH98948;SHGC-149665;SHGC-34179;SHGC-83272;WI-13813 ARHGEF22;DKFZp686H2395;DKFZp686K0690;FLJ42509;KIAA0861 MCF2-transforming sequence-like protein 2;OTTHUMP00000212872;OTTHUMP00000212875;Rho family guanine-nucleotide exchange factor;dbs-related Rho family guanine nucleotide exchange factor;probable guanine nucleotide exchange factor MCF2L2 protein-coding ENSG00000053524 HGNC:30319 08308 VALIDATED 1350244 MCFD2 multiple coagulation factor deficiency 2 This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010] 2 2 2 p21 46967630 47007856 - 47129009 47168994 - 46901870 46941855 - 6480464;7240710;8554872;8699517 10090934;10090935;12477932;12717434;12832409;14702039;15292203;15489334;15815621;15886209;16044454;16344560;17010120;17610559;17785371;18056485;18391077;18590741;18685427;19787799;20004600;20007547;20138881;20339536;21832049;21890473;22337587;22535353;22764119;22939629;23660967;23709226;23852824;2463956 90411 B4DF17;C9JTR4;H7BZ18;Q8NI22 ABBA01075146;ABBA01075147;AC016722;AC093732;AF475284;AF537214;AI079820;AI371370;AK095006;AK292127;AK293889;AL833900;AMYH02003743;AMYH02003744;AMYH02003745;AMYH02003746;BC037845;BC040357;BI553070;CF994192;CH471053;CR749562;CS208035;DA194356;DA226366;DA324623;DA330030;DA404031;DA412975;DB096245;DC321899;DC332658;HB867220;M23161;NG_016428;NM_001171506;NM_001171507;NM_001171508;NM_001171509;NM_001171510;NM_001171511;NM_139279 AAH37845;AAH40357;AAM28465;AAP23162;AAY15013;ABM82030;ABM85211;BAF84816;BAG57278;CAD38756;CAH18359;CAJ44943;CBF57596;EAX00230;EAX00231;EAX00232;EAX00233;NP_001164977;NP_001164978;NP_001164979;NP_001164980;NP_001164981;NP_001164982;NP_644808;Q8NI22 Hs.662152 1690476;1703998;1772810;1772812;5109549 A005Q18;D21S1698;G20415;RH92899;SHGC-77786 DKFZp686G21263;F5F8D;F5F8D2;LMAN1IP;SDNSF OTTHUMP00000203114;OTTHUMP00000203115;OTTHUMP00000203116;OTTHUMP00000203117;OTTHUMP00000203118;OTTHUMP00000203119;OTTHUMP00000203120;OTTHUMP00000203121;multiple coagulation factor deficiency protein 2;neural stem cell derived neuronal survival protein;neural stem cell-derived neuronal survival protein APPROVED protein-coding ENSG00000180398 HGNC:18451 09693 607788;613625 REVIEWED 1346657 MCFD2P1 multiple coagulation factor deficiency 2 pseudogene 1 6 6 6 p22.1 28981497 28983465 + 27375502 27377470 + 27407723 27409691 + 645927 ABBA01037994;AL031118;AMYH02013382;NG_009330 C6orf44;MCFD2L;NUCB2-L;dJ153G14.2 APPROVED pseudo HGNC:21582 INFERRED 5130620 MCF2L-AS1 MCF2L antisense RNA 1 13 13 13 q34 94446351 94447505 - 113621798 113622952 - 112967484 112968638 - 11181995;12477932 100289410 ABBA01019855;AL356740;AMYH02028735;BC004179;BC064982;BC080517;BQ012856;CH471085;NR_034002 EAX09173;EAX09174 Hs.667436 1800662;1802310;1809504;1827346;1829252;1894128;1894130;1894132;1894134;1894136;1894138;1894140;1894142;1894144;1894146;1894148;1894150;1894152;1894154;2202326;5121855;5121857 ECD01192;ECD02039;ECD05744;ECD14788;ECD15755;REN17818;REN17819;REN17820;REN17821;REN17822;REN17823;REN17824;REN17825;REN17826;REN17827;REN17828;REN17829;REN17830;REN17831;REN17832;REN17833;stSG621865 APPROVED ncrna HGNC:39825 VALIDATED 1345996 MCF2 MCF.2 cell line derived transforming sequence The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010] X X X q27 139031369 139157817 - 138663930 138790381 - 139581771 139708222 - 1580863;6480464;8699517;8554872 10518015;10652228;10854437;10925207;11062019;11134331;11756498;11907027;12376548;12376551;12445822;12787561;13679059;15772651;1611909;16344560;17178836;17538024;17606614;18470881;18728402;19373475;20479760;2065022;21712385;21963094;22984590;2577874;2613238;3056717;3281159;3491366;8276860 4168 B2R9S6;H0Y662;P10911;Q5JYJ5 AB085901;AB085902;ABBA01066049;ABBA01066050;ABBA01066051;ABBA01066052;ABBA01066053;ABBA01066054;ABBA01066055;ABBA01066056;ABBA01066057;ABBA01066058;ABBA01066059;AK296488;AK296529;AK302957;AK313900;AK316416;AL033403;AL117234;AL161777;AMYH02040614;CH471150;DA326503;DA391685;DA723464;DC298193;J03639;NG_016439;NM_001099855;NM_001171876;NM_001171877;NM_001171878;NM_001171879;NM_005369;X12556;X13230;XM_005262413;XM_005262414;XM_006724757 AAA52172;AAI60052;BAC41200;BAC41201;BAG36623;BAH12371;BAH12378;BAH13855;BAH14787;CAA31069;CAA31617;CAB55301;EAW88426;EAW88427;EAW88428;EAW88429;EAW88430;NP_001093325;NP_001165347;NP_001165348;NP_001165349;NP_001165350;NP_005360;P10911;XP_005262470;XP_005262471;XP_006724820 Hs.387262 1674374;1675152;1691554;1691654;1702396;2107333;2133177 AL032592;AL032612;DXS9752;MCF2__7384;STS-X12556;UniSTS:99307;WI-14785 ARHGEF21;DBL OTTHUMP00000024155;OTTHUMP00000024156;OTTHUMP00000024157;OTTHUMP00000024158;OTTHUMP00000024159;OTTHUMP00000226076;Oncogene MCF2 (oncogene DBL);proto-oncogene DBL;proto-oncogene MCF-2 APPROVED protein-coding ENSG00000101977 HGNC:6940 02406 311030 REVIEWED 7248214 MCHR2-AS1 MCHR2 antisense RNA 1 6 6 6 q16.3 101085885 101168376 + 100441877 100524295 + 99994038 100076419 + 728012 ABBA01014471;ABBA01014472;AI635357;AL590725;AL590732;AL603909;AMYH02014190;BU154553;BU853836;BX097456;DB461069;HG499472;HG499473;KF458236;NR_038384 Hs.434366 RP11-14I4.3 ncrna ENSG00000229315 HGNC:48980 VALIDATED 733421 MCHR1 melanin-concentrating hormone receptor 1 The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 24878864 24882500 + 41075182 41078818 + 40679178 40682814 + 1624359;1580863;1624360;704404;6480464 15363890;16186414 10421367;10421368;10441476;10591208;10860944;11416225;11478907;11839762;12127971;12176038;12208518;12220661;12477932;12620396;12865333;14632194;15166293;15340116;15461802;15489334;15590649;15928315;15941924;16039987;16741940;16754659;18198296;18577758;18722347;19058789;19320743;19453261;19502010;20633139;20734064;20833795;20888736;21637341;22081064;22154049;24305679;8977118 2847 A6ZJ87;Q5IFI4;Q99705 AB063174;ABBA01055608;AF490537;AI934819;AK314857;AMYH02038411;AY562945;AY745811;AY747629;BC001736;BC021146;BT006725;CH471095;CR456497;NG_029686;NM_005297;U71092;XM_005261581;Z86090 AAC14587;AAH01736;AAH21146;AAO14670;AAP35371;AAS72373;AAV98052;AAV98053;ABM84529;ABM85991;BAB60890;BAG37373;CAG30383;CAK54525;CAK54824;EAW60387;EAW60388;NP_005288;Q99705;XP_005261638 Hs.248122 1647694;1679748;1699474;1740081;1795940 D22S1131;GPR24_1570;RH103329;RH80848;WI-22361 GPR24;MCH-1R;MCH-R1;MCH1R;MCHR;MCHR-1;MGC32129;SLC-1;SLC1 G protein-coupled receptor 24;G-protein coupled receptor 24;MCH receptor 1;OTTHUMP00000196796;somatostatin receptor-like protein APPROVED protein-coding ENSG00000128285 HGNC:4479 11874 601751 REVIEWED 6771255 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein ENCODES a protein that exhibits identical protein binding; INVOLVED IN motile cilium assembly; regulation of mitotic cell cycle; centriole assembly (ortholog); FOUND IN nucleus 5 5 5 q11.2 51468215 51475934 - 54515425 54523143 - 55219597 55227315 - 21543332;22231168;24064211 345643 D6RGH6;I6L8E2 ABBA01015739;AC091977;AMYH02011310;FR854393;NM_001190787 CCA89438;D6RGH6;NP_001177716 Hs.394578 IDAS;MCI;MCIN multiciliate cell differentiation 1;multiciliate differentiation and DNA synthesis-associated cell cycle protein;multicilin APPROVED protein-coding ENSG00000234602 HGNC:40050 614086 VALIDATED 1347761 MCHR2 melanin-concentrating hormone receptor 2 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH benzo[a]pyrene 6 6 6 q16 101011840 101086179 - 100367786 100442114 - 99919910 99994238 - 1580863;6480464;8554872 11274220;11355873;11404457;11416225;11459838;11478907;11839762;12127971;12477932;12620396;14574404;14702039;15229878;15340116;15489334;15941924;16754659;17698913;19502010;19683862;19927306;20099459;21102462;22123324 84539 Q969V1 AB058849;AB060151;ABBA01014472;ABBA01014473;AF347063;AF399937;AK123634;AL590725;AMYH02014188;AMYH02014189;AMYH02014190;AY029596;AY562946;BC038441;BC095515;CH471051;NM_001040179;NM_032503 AAH95515;AAK32193;AAK38157;AAL05528;AAS72374;BAB55677;BAB87842;BAG53926;EAW48459;EAW48460;NP_001035269;NP_115892;Q969V1 Hs.591342 1794706;1794708 PMC34708P1;PMC34708P2 GPR145;GPRv17;MCH-2R;MCH-R2;MCH2;MCH2R;MCHR-2;SLT G protein-coupled receptor 145;G protein-coupled receptor slt;G-protein coupled receptor 145;MCH receptor 2;OTTHUMP00000016901;melanin-concentrating hormone 2 2289234;2289252 BW141_H;BW142_H protein-coding ENSG00000152034 HGNC:20867 12088 606111 VALIDATED 1343881 MCKD2 medullary cystic kidney disease 2 (autosomal dominant) ASSOCIATED WITH Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (inferred); HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 (inferred); Medullary Cystic Kidney Disease 2 (inferred) 7240710 10330352 10122 HGNC:6942 162000;603860;609886 1347319 MCKD1 medullary cystic kidney disease 1 (autosomal dominant) ASSOCIATED WITH Medullary cystic kidney disease 1 (inferred) 7240710 9536096 4169 1337416;1339714;1340021 D1S1595;D1S2125;D1S498 HGNC:6941 174000 1352112 MCM3AP-AS1 MCM3AP antisense RNA 1 INTERACTS WITH benzo[a]pyrene; disodium selenite; valproic acid 21 21 21 q22.3 32761560 32784035 + 47649158 47671604 + 46229524 46235453 + 6480464 12036297;12477932;14702039;21900206 114044 ABBA01021760;ABBA01021761;AF426262;AF426263;AK001370;AK054878;AMYH02037952;AP001469;BC002458;BC016306;BC030022;BC047759;BC059792;HG511936;HG511939;NR_002776;NR_110565;NR_110566;NR_110567;XR_244337;XR_249008 Hs.655095;Hs.731747 2153152;2165939;2176499;2176501 D21S2038;SHGC-51870;SHGC-87721;STS-N58265 C21orf85;FLJ10508;MCM3AP-AS;MCM3APAS;MCM3APASB;MGC61921;NCRNA00031 mcm3 minichromosome maintenance deficient 3 (s. cerevisiae) associated protein antisense APPROVED ncrna ENSG00000215424 HGNC:16417 VALIDATED 735512 MCL1 myeloid cell leukemia 1 This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010] 1 1 1 q21 123662793 123667900 - 150547027 150552214 - 150574551 150579738 - 70678;2313975;6480464;6484113 17322918;9356461 10198631;10579309;10634649;10766760;10837489;10965038;10978339;11130466;11483855;11546872;11598139;11781193;11877256;11911971;12057933;12070027;12149273;12176902;12223490;12359245;12445202;12475993;12477932;12496428;12637318;12660820;12782407;12783855;12787138;12855556;12901848;12915532;12960271;14633975;14982947;15014070;15077116;15078892;15122313;15126604;15217829;15241487;15262975;15370246;15378010;15451437;15489334;15550399;15588513;15611089;15613543;15626746;15637055;15694340;15713684;15721256;15728130;15753661;15842635;15901672;15902294;15940637;15989957;16007132;16027162;16091744;16109713;16196087;16213503;16229017;16289418;16327976;16339575;16380381;16456709;16478725;16538501;16543145;16697956;16710414;16725198;16761109;16782027;16822835;16901898;16969094;16978419;17009247;17072336;17145774;17200126;17227835;17384650;17387146;17463001;17495975;17498302;17525735;17545167;17553788;17561513;17599053;17634558;17670986;17698840;17805325;17823113;17893147;17907802;17927446;17928528;17942758;18006817;18025305;18029348;18032706;18046444;18088462;18089567;18178565;18208354;18234961;18292181;18415656;18452656;18483275;18495871;18543107;18552129;18599795;18609706;18647593;18676738;18676833;18757878;18768389;18769617;18781797;19008456;19012245;19037233;19051025;19077158;19092849;19099185;19148187;19150432;19167051;19285955;19288493;19369967;19372583;19401626;19481066;19484260;19503096;19523441;19549371;19571464;19581935;19582795;19587033;19605477;19616548;19622586;19634140;19654003;19676043;19683529;19684859;19734538;19737931;19748896;19763916;19773546;19782681;19808698;19838163;19840460;19841168;19887550;19913121;19933775;19942343;19949310;19955184;19965632;19966861;19968497;19968719;19968986;20004446;20007713;20023629;20038816;20051518;20066663;20066738;20074640;20085644;20156337;20173022;20189983;20197552;20308427;20392693;20501829;20503275;20526282;20571074;20628086;20647761;20677014;20693279;20802294;21036904;21132008;21138867;21139048;21139567;21139584;21148306;21151390;21216463;21220745;21228225;21247487;21253591;21258408;21292770;21298030;21368833;21393866;21406400;21412051;21423203;21471522;21504623;21507240;21516346;21566062;21596068;21613222;21628457;21659544;21670080;21674276;21730980;21734342;21750559;21824245;21841196;21846680;21863213;21887682;21896753;21899728;21906983;21907705;21947543;21951844;21952639;21963094;21983785;21993632;22024133;22056880;22072062;22108005;22125448;22152474;22188816;22190034;22194343;22203987;22219388;22231730;22253918;22257632;22266706;22268450;22270368;22277751;22279045;22292048;22311987;22354970;22361683;22403404;22451485;22456335;22496479;22505724;22527182;22548841;22552282;22623531;22686245;22796578;22873792;22934750;22994781;23000965;23024798;23056582;23059828;23064357;23088735;23097624;23158473;23171055;23174563;23195034;23257783;23301543;23341456;23364598;23369735;23418490;23431241;23455323;23456625;23463670;23478333;23503679;23524145;23546867;23547049;23580240;23585552;23608884;23611778;23618862;23636231;23640248;23681223;23696245;23711389;23750239;23756231;23790646;23872733;23883584;23887890;23904379;23954445;23977882;23991020;24025188;24038028;24040284;24091677;24113155;24127964;24234443;24260268;24263101;24491548;24650799;24680709;24688049;24735609;24811167;24999239;7682708;7835896;7896880;8790944;9184696;9671497;9731710 4170 C8YZ26;Q07820 AA453505;ABBA01049348;AF118124;AF118276;AF118277;AF118278;AF147742;AF162677;AF198614;AF203373;AK294462;AK297217;AK300499;AK304775;AK312508;AK316267;AL356356;AMYH02001854;BC017197;BC071897;BC107735;BT006640;CA421486;CH471121;DQ088966;FJ917536;L08246;NG_029146;NM_001197320;NM_021960;NM_182763 AAD13299;AAF15309;AAF15310;AAF15311;AAF64255;AAF64256;AAF74821;AAG00896;AAG00904;AAH17197;AAH71897;AAI07736;AAP35286;AAY68220;ABM84721;ABM92245;ACV83304;BAG35409;BAG57694;BAG59700;BAG62213;BAG65530;BAH14638;EAW53538;EAW53539;EAW53540;EAW53541;NP_001184249;NP_068779;NP_877495;Q07820 Hs.632486 1652302;1683172;1792492;1796312;2139212;2155629;2155897;2171536;5091994 D1S3568;MCL1_369;PMC152246P2;RH67950;RH68997;RH78781;SHGC-2474;SHGC-34987;WI-20019 BCL2L3;EAT;MCL1-ES;MCL1L;MCL1S;MGC104264;MGC1839;Mcl-1;TM;bcl2-L-3;mcl1/EAT OTTHUMP00000032794;OTTHUMP00000032795;bcl-2-like protein 3;bcl-2-related protein EAT/mcl1;induced myeloid leukemia cell differentiation protein Mcl-1;myeloid cell leukemia ES;myeloid cell leukemia sequence 1;myeloid cell leukemia sequence 1 (BCL2-related);myeloid cell leukemia sequence 1, isoform 1 APPROVED protein-coding ENSG00000143384 HGNC:6943 08870 159552 REVIEWED 1322725 MCM10 minichromosome maintenance complex component 10 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 p13 13130372 13179899 + 13203554 13253104 + 13161554 13211104 + 6480464 11095689;11230166;11602595;11864598;11889827;12045100;12477932;12791985;12808023;12844493;14702039;15136575;15164054;15195143;15226314;15232106;15489334;15707391;16189514;16344560;16385451;17370265;17643375;17699597;17761813;17823614;17975119;17997977;17997981;18029348;19023099;19447967;19608746;19696745;19795399;19805216;20064936;20098747;20379614;21139048;21832049;21906983;22570418;22918587;23000965;23449222;23750504 55388 AAB34309;AAB34784;C9J600;Q5T670;Q7L590 AB042719;ABBA01034632;AF119869;AK055695;AK292701;AL136840;AL138764;AL355355;AMYH02022171;BC004876;BC009108;BC101727;BC143490;CH471072;DA024424;NM_018518;NM_182751 AAB34309;AAB34784;AAF69623;AAH04876;AAI01728;AAI43491;BAB18723;BAB70988;BAF85390;CAB66774;EAW86297;EAW86298;NP_060988;NP_877428;Q7L590 Hs.198363 1851370 SHGC-5841 CNA43;DNA43;MGC126776;PRO2249 MCM10 minichromosome maintenance deficient 10;OTTHUMP00000019133;OTTHUMP00000019134;OTTHUMP00000216196;homolog of yeast MCM10;hsMCM10;mcm10 minichromosome maintenance deficient 10 (s. cerevisiae);protein MCM10 homolog APPROVED protein-coding ENSG00000065328 HGNC:18043 11297 609357 VALIDATED 737008 MCF2L MCF.2 cell line derived transforming sequence-like ENCODES a protein that exhibits 1-phosphatidylinositol binding (inferred); Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN apoptotic signaling pathway (inferred); intracellular signal transduction (inferred); neurotrophin TRK receptor signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular space; INTERACTS WITH 8-bromo-3',5'-cyclic AMP; aflatoxin B1; arsenous acid 13 13 13 q34 94447310 94578431 + 113548692 113754053 + 112894378 113099739 + 1580863;6480464;8554872 10518015;11756498;11889037;12006984;12147231;12376548;12376551;12477932;12787561;14701795;14702039;15157669;15531584;15790807;16344560;17562712;17568003;17903294;18029348;19911011;20379614;21871595;21890473;21900206;22615457;23381943;24163127;7957046;9205841 23263 A2A3G7;A2A3H1;A2A639;A2A640;B7ZBR9;F8WBK7;G5E9A1;H0Y4M6;H0Y519;H0Y7A3;H3BLT1;H7BYP9;H7C275;H7C2S1;M0R1J7;M0R393;O15068;X6RE72 AB002360;AB116074;AB116075;ABBA01019855;ABBA01019856;ABBA01019857;ABBA01019858;ABBA01019859;AF086413;AK022184;AK057899;AK092739;AK094768;AK123267;AK295047;AK295670;AK307867;AK315969;AL137002;AL162454;AL356740;AL596093;AMYH02028735;AMYH02028736;AMYH02028737;AMYH02028738;AW241629;BC011853;BC020208;BC107066;BC107067;BX648279;CH471085;CR988747;DA114166;DA313448;DA769805;DB476653;EF212235;NM_001112732;NM_024979;XM_005268307;XM_005268308;XM_005268309;XM_005268310;XM_005268312;XM_005268313;XM_005268314;XM_005268315;XM_005268316;XM_006719966;XM_006719967;XM_006719968;XR_429282 AAH11853;AAH20208;AAI07067;AAI07068;ABM82967;ABM86159;BAA20817;BAB71611;BAD08351;BAD08352;BAG52925;BAG58097;BAG58528;BAH14340;EAX09175;EAX09176;EAX09177;EAX09178;EAX09179;EAX09180;NP_001106203;NP_079255;O15068;XP_005268364;XP_005268365;XP_005268366;XP_005268367;XP_005268369;XP_005268370;XP_005268371;XP_005268372;XP_005268373;XP_006720029;XP_006720030;XP_006720031 Hs.170422;Hs.693538 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ARHGEF14;DBS;FLJ12122;KIAA0362;OST DBL's big sister;MCF2 transforming sequence-like protein;MCF2-transforming sequence-like protein;OTTHUMP00000018740;OTTHUMP00000018741;OTTHUMP00000018742;OTTHUMP00000081739;OTTHUMP00000202677;guanine nucleotide exchange factor DBS protein-coding ENSG00000126217 HGNC:14576 14371 609499 VALIDATED 1315674 MCM3AP minichromosome maintenance complex component 3 associated protein The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014] 21 21 21 q22.3 32767449 32817670 - 47655047 47706211 - 46235125 46286572 - 1580863;6480464;8554872 10733502;10830953;11024281;11258703;11526238;11641399;12167160;12226073;12421765;12477932;12885157;14702039;15231748;15489334;16169070;16780588;16914116;18276110;18976975;19578742;19686285;20005110;20384790;20507984;20714864;20811636;20936779;21139048;21195085;21890473;21900206;21963094;21988832;22395445;22412018;22505724;22586326;22942428;23000965;23094019;23652018;23666240;24123876;24198285;24816145;9628581;9712829 8888 O60318 AA659734;AB005543;AB011144;ABBA01021760;ABBA01021761;AJ010089;AK022303;AK026578;AK095181;AK126313;AK127239;AK304208;AL079407;AMYH02037952;AMYH02037953;AMYH02037954;AP000471;AP001469;AY590469;BC004497;BC013285;BC104958;BC104960;CH471079;HF584748;NG_033881;NM_003906;XM_005261203;XM_005261204;XM_005261205;XM_005261206;XM_006724064;XM_006724065 AAH04497;AAH13285;AAI04959;AAI04961;AAS89300;BAA25170;BAA25498;BAG53000;BAG54306;BAG54460;BAH14134;CAB52687;CCQ44045;EAX09296;NP_003897;O60318;XP_005261260;XP_005261261;XP_005261262;XP_005261263;XP_006724127;XP_006724128 Hs.389037;Hs.592438 1673018;1768839;2153152;2165939;2176499;2176501;2182680;5015869;5020946 D21S2038;G13218;GDB:313261;L17971;SHGC-51870;SHGC-52108;SHGC-87721;SHGC-87728;STS-N58265 FLJ44336;FLJ45306;GANP;KIAA0572;MAP80;SAC3 80 kDa MCM3-associated protein;MCM3 acetylating protein;MCM3 acetyltransferase;MCM3 import protein;MCM3 minichromosome maintenance deficient 3 associated protein;OTTHUMP00000115776;germinal center-associated nuclear protein;germinal-center associated nuclear protein;germinal-centre associated nuclear protein;mcm3 minichromosome maintenance deficient 3 (s. cerevisiae) associated protein;minichromosome maintenance deficient 3-associated protein APPROVED protein-coding ENSG00000160294 HGNC:6946 04483 603294 REVIEWED 1313036 MCM3 minichromosome maintenance complex component 3 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 6 6 6 p12 53789937 53810711 - 52128812 52149679 - 52264014 52284881 - 1580863;6480464;6907045 10436018;10454562;10464337;10733502;10780780;10846177;11024281;11046155;11095689;11248027;11258703;11779870;11931757;12045100;12226073;12364596;12477932;12519773;12614612;12791985;14574404;15161933;15210935;15226314;15232106;15236977;15302935;15385968;15489334;1549468;15623617;15635413;15654075;15671553;15707391;15766559;15775975;16226712;16537544;16902406;16951160;16964243;17081983;17148452;17244605;17296731;17353931;17540176;17620599;18029348;18247557;18524952;18781797;19454010;19471022;19596686;19738201;19818763;19862764;19946888;20211142;20473970;20508983;20545442;20661220;21055985;21081666;21139048;21145461;21149733;21252943;21383955;21504906;21509594;21658608;21693764;21880767;21890473;21900206;21906983;21963094;21965652;21987572;22053931;22058115;22079093;22113938;22145905;22268729;22505724;22623428;22805320;22863883;22918583;22939629;23000965;23022380;23158102;23364796;23382044;23821456;23862649;23886132;24190967;24239288;24322982;24324072;24344040;24583282;24816145;25027693;25036637;7601140;7615659;7622621;7705359;7758114;7760938;8125298;8265339;8631321;8798650;9099751;9250678;9712829;9843502 4172 B4DUQ9;B4DWW4;J3KQ69;M0QYS9;P25205;Q7Z6P5 ABBA01050558;AI683709;AK222586;AK299566;AK300754;AK301704;AK312928;AL034343;AMYH02013731;AY032603;AY621074;BC001626;BC003509;BI463632;CH471081;D38073;DC404097;HH769478;NM_001270472;NM_002388;X62153 AAH01626;AAH03509;AAK56392;AAT27321;ABM84580;ABM86766;BAA07267;BAD96306;BAG35772;BAG61508;BAG62421;BAG63176;CAA44078;CBX85467;EAX04366;EAX04367;NP_001257401;NP_002379;P25205 Hs.179565 1668974;1682373;1685363;1789845;2155836;2159546;2191649;5094703 MARC_13500-13501:1002732289:3;MARC_3939-3940:996679197:3;RH46848;RH70755;RH80718;RH80758;STS-T91828;csnpmcm3-pcr1-1 HCC5;MGC1157;P1-MCM3;P1.h;RLFB;p102 DNA polymerase alpha holoenzyme-associated protein P1;DNA replication factor MCM3;DNA replication licensing factor MCM3;MCM3 minichromosome maintenance deficient 3;OTTHUMP00000016600;RLF subunit beta;cervical cancer proto-oncogene 5;hRlf beta subunit;mcm3 minichromosome maintenance deficient 3 (s. cerevisiae);minichromosome maintenance deficient 3;replication licensing factor, beta subunit APPROVED protein-coding ENSG00000112118 HGNC:6945 04072 602693 REVIEWED 735578 MCM4 minichromosome maintenance complex component 4 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 8 8 8 q11.2 44858902 44875475 + 48872763 48890720 + 47960203 47978160 + 6480464;6907045;7240710;8699517;8554872 10436018;10567526;10748114;10846177;11095689;11136247;11248027;11454864;11931757;12045100;12207017;12364596;12477932;12614612;12694531;12714602;12771218;12791985;14702039;15037254;15081408;15226314;15232106;15236977;15302935;15489334;15635413;15707391;16341674;16387653;16517729;16519687;16902406;16964243;17005684;17046832;17081983;17222376;17296731;17620012;18029348;18162579;18190532;18247557;18274552;19053250;19074885;19322201;19471022;19615732;19738201;19773279;19862764;19946888;20211142;20333247;20398247;20508983;20639865;20800603;20884074;21055985;21081666;21113133;21139048;21149733;21252943;21693764;21890473;21906983;21963094;22053931;22145905;22157815;22160829;22190034;22354167;22354170;22407294;22499342;22505724;22586326;22623428;22668557;22797925;22863883;22918583;22939629;22990118;23000965;23264620;23658844;24038355;24250222;24583282;24816145;24958773;25027693;25036637;7601140;8265339;8631321;8798650;9099751;9284934;9305914;9465298;9642275 4173 B3KMX0;B4DLA6;E5RFJ8;E5RFR3;E5RG31;E5RG53;E5RHP5;P33991 ABBA01041643;ABBA01041644;AC021236;AK022899;AK296913;AK309812;AM493756;AMYH02017944;AY588245;BC031061;BF793151;BM781972;BQ058022;BQ689703;CH471068;HH769490;NG_032967;NM_005914;NM_182746;U63630;U90415;X74794;XM_005251234 AAB51723;AAC52018;AAH31061;AAS83108;BAG51132;BAG59468;CAA52801;CAM35476;CBX85473;EAW86684;EAW86685;EAW86686;NP_005905;NP_877423;P33991;XP_005251291 Hs.460184 1678069;1698082;1792268;1792270;1792272;1792274;1792276;1792278;2128311;2140431;2158408;2158767;5017646;5020948;5022200;5022578 D1S1423;G32123;G35510;L18426;MCM4;PMC140533P1;PMC140533P2;PMC140533P3;PMC140533P4;PMC140533P5;PMC140533P6;RH102573;RH78302;RH80868;SHGC-35380;STS-N27515 CDC21;CDC54;MGC33310;NKCD;NKGCD;P1-CDC21;hCdc21 CDC21 homolog;DNA replication licensing factor MCM4;MCM4 minichromosome maintenance deficient 4;OTTHUMP00000226180;OTTHUMP00000226181;OTTHUMP00000226184;homolog of S. pombe cell devision cycle 21;mini chromosome maintenance deficient 4 homolog (s. cerevisiae);minichromosome maintenance deficient 4 APPROVED protein-coding ENSG00000104738 HGNC:6947 09094 602638;609981 REVIEWED 1313689 MCM2 minichromosome maintenance complex component 2 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012] 3 3 3 q21 125743735 125767756 + 127317200 127341279 + 127598357 127622436 + 1580863;6480464;6907045 10436018;10454562;10523313;10567526;10748114;10846177;11095689;11248027;11259605;11278932;11472637;11568184;11864598;11872961;11931757;12045100;12087101;12119552;12207017;12392551;12477932;12480933;12519773;12614612;12694531;12740381;12791985;12805274;12966424;15210935;15226314;15232106;15236977;15302935;15345747;15489334;15635413;15654075;15707391;15766559;16083285;16169070;16189514;16226712;16344560;16387653;16428461;16446360;16609045;16629645;16722928;16826239;16864800;16882345;16899510;16902406;16964243;17081983;1710453;17296731;17512033;17557111;17620012;17927916;17940502;18184650;18190532;18248354;18249467;18286467;18465232;18774496;18781797;18803052;19001846;19001876;19077563;19144445;19243005;19318354;19471022;19522849;19525936;19615732;19647517;19696745;19738201;19805216;19819239;19862764;20085707;20174894;20184667;20227376;20333247;20508983;20562859;20628624;20661220;20694513;20697251;20847638;21044950;21055984;21055985;21081666;21097442;21113133;21139048;21145461;21149733;21237484;21252943;21319273;21383955;21457648;21478101;21543106;21775519;21832049;21866463;21868526;21868554;21890473;21906983;21943228;21947329;21963094;21965782;21988832;22053931;22058115;22113938;22115939;22145905;22407294;22474384;22505724;22554381;22590819;22623428;22778705;22863883;22918583;22939629;23066029;23329420;23347057;23364796;23390603;23770000;23803736;24250222;24583282;24654937;24816145;25027693;25036637;7584026;7584028;7842741;8175912;8258304;8798650;9099751;9642275 4171 C9J013;C9JZ21;F8WDM3;H0Y8E6;H7C4N9;P49736 ABBA01020881;AC023593;AK128291;AK299934;AK304204;AK309335;AMYH02007603;AMYH02007604;AY270230;AY675259;BC000300;BC006165;BC007670;BC007938;BC014272;BC017258;BC017490;BC030131;BM153020;BT009734;CH471052;D21063;D83987;DB100427;FB572966;HH769468;JA397303;NM_004526;NR_073375;X67334 AAH00300;AAH06165;AAH07670;AAH07938;AAH14272;AAH17258;AAH17490;AAH30131;AAP88735;AAP88736;AAT70723;BAA04642;BAA12177;BAG54656;BAG61767;BAH14132;CAA47749;CAR95152;CBX85462;CCD32687;EAW79339;NP_004517;P49736 Hs.477481 1744787;1789841;1789843;1848063;2107335;2163453;2181684;5016905 D3S3345;GDB:568593;MCM2_7820;RH25268;SHGC-30693;STS-X67334;csnpmcm2-pcr1-1;csnpmcm2-pcr6-1 BM28;CCNL1;CDCL1;D3S3194;KIAA0030;MGC10606;cdc19 DNA replication licensing factor MCM2;MCM2 minichromosome maintenance deficient 2, mitotin;MITOTIN;OTTHUMP00000216047;OTTHUMP00000216050;cell devision cycle-like 1;cyclin-like 1;mcm2 minichromosome maintenance deficient 2, mitotin (s. cerevisiae);minichromosome maintenance deficient 2 (mitotin);minichromosome maintenance protein 2 homolog;nuclear protein BM28 APPROVED protein-coding ENSG00000073111 HGNC:6944 00303 116945 REVIEWED 9068598 MCM8-AS1 MCM8 antisense RNA 1 20 20 5971449 5986467 - 5990795 6005821 - 101929225 ABBA01053897;AI222400;AK058185;AL035461;AMYH02036654;KF456799;LK937879;NR_110101 Hs.635771 ncrna ENSG00000278719 HGNC:51230 VALIDATED 1313114 MCM8 minichromosome maintenance complex component 8 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013] 20 20 20 p12.3 6002910 6047121 + 5931298 5975852 + 5950652 5995206 + 6480464 10436018;11095689;11125146;11780052;11931757;12045100;12477932;12527764;12771218;12791985;14702039;15226314;15489334;15684404;15707391;18072282;19448619;19448621;19913121;20205591;20628086;20800603;22131368;22267201;22696150;23307926;23401855;23551011;25036637;8889548 84515 B4DN82;Q9UJA3 ABBA01053893;ABBA01053894;ABBA01053895;ABBA01053896;ABBA01053897;AI200387;AJ439063;AK027644;AK297806;AK314654;AL035461;AMYH02036653;AMYH02036654;AY158211;BC005170;BC008830;BC080656;BC101054;BC101055;BC101056;BC101057;BM664368;CH471133;CS402789;CS402791;CS402793;CS402795;CS402799;CS402801;KF454943;NM_001281520;NM_001281521;NM_001281522;NM_032485;NM_182802;XM_005260859 AAH08830;AAH80656;AAI01055;AAI01056;AAI01057;AAI01058;AAO21222;BAB55260;BAG37214;BAG60144;CAD27750;CAL40366;CAL40367;CAL40368;CAL40369;CAL40371;CAL40372;EAX10403;EAX10404;EAX10405;NP_001268449;NP_001268450;NP_001268451;NP_115874;NP_877954;Q9UJA3;XP_005260916 Hs.597484 1668522;1778025;1792698;1848036;2108249;5112225 MCM8_8114;PMC156728P1;RH102540;RH68660;SGC32385;WI-17957 C20orf154;MGC119522;MGC119523;MGC12866;MGC4816;REC;dJ967N21.5 DNA helicase MCM8;DNA replication licensing factor MCM8;MCM8 minichromosome maintenance deficient 8;OTTHUMP00000030217;OTTHUMP00000030218;REC homolog;mcm8 minichromosome maintenance deficient 8 (s. cerevisiae);minichromosome maintenance 8 APPROVED protein-coding ENSG00000125885 HGNC:16147 12186 608187 REVIEWED 1352854 MCM6 minichromosome maintenance complex component 6 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012] 2 2 2 q21 130307953 130344734 - 136597196 136634047 - 135839626 135876477 - 1580863;6480464;6907045;7240710;8699517;8554872 10327050;10436018;10567526;10748114;10846177;11095689;11136247;11248027;11788828;11931757;12045100;12192004;12207017;12477932;12519773;12614612;12694531;12771218;12791985;15146197;15226314;15232106;15236977;15489334;15635413;15707391;16159877;16189514;16344560;16387653;16438930;16899510;16902406;16964243;17148452;17159977;17294730;17296731;17410335;17620012;17643375;17911653;17955473;18029348;18162579;18184650;18247557;18781797;18797476;19454010;19615732;19738201;19862764;19937006;20085707;20103649;20173814;20202939;20227376;20447925;20508983;20628624;21055984;21055985;21081666;21099365;21113133;21139048;21145461;21149733;21252943;21319273;21853274;21890473;21906983;21963094;22053931;22058115;22079093;22140117;22190034;22407294;22505724;22586326;22623428;22863883;22918583;22939629;22990118;23000965;23166591;23824909;24038355;24190967;24250222;24816145;25015289;25027693;25036637;8798650;8921380;8977093;9099751;9286856;9305914;9516426 4175 Q14566;Q53T61 AA577398;ABBA01028160;AC011893;AC011999;AK299236;AK303455;AK312575;AMYH02004856;AU124893;AY220757;BC008774;BC020268;BC032374;CH471058;CN389677;CS566136;D84557;DA521248;JB259166;NG_008958;NM_005915;U46838 AAC50766;AAH32374;AAO26043;AAX88925;AAY15028;BAA12699;BAG35469;BAG61268;BAG64499;CAN37618;CDH61697;EAX11621;NP_005906;Q14566 Hs.444118 1676510;1706084;1724221;1789847;1789849;1789851;1789853;1789855;1789857;1789859;1789861;1789863;1789865;2125277;2144784;2176887;2185214 G29257;RH121248;RH46031;RH67906;RH77976;RH93355;SHGC-80078;csnpmcm6-pcr1-1;csnpmcm6-pcr10-1;csnpmcm6-pcr11-1;csnpmcm6-pcr12-1;csnpmcm6-pcr17-1;csnpmcm6-pcr3-1;csnpmcm6-pcr5-1;csnpmcm6-pcr6-1;csnpmcm6-pcr7-1;csnpmcm6-pcr9-1 MCG40308;Mis5;P105MCM DNA replication licensing factor MCM6;MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe);MIS5 homolog;OTTHUMP00000162532;mcm6 minichromosome maintenance deficient 6 (mis5 homolog, s. pombe) (s. cerevisiae);minichromosome maintenance deficient (mis5, S. pombe) 6;minichromosome maintenance deficient 6 homolog APPROVED protein-coding ENSG00000076003 HGNC:6949 03485 223100;601806 REVIEWED 1349273 MCO microphthalmia (Los Angeles type) 4178 HGNC:6952 1605856 MCMDC2 minichromosome maintenance domain containing 2 ENCODES a protein that exhibits ATP binding (inferred); DNA binding (inferred); INVOLVED IN DNA replication (inferred); INTERACTS WITH benzo[a]pyrene 8 8 8 q13.1 63776478 63827777 + 67782984 67834283 + 66870749 66922048 + 6480464 12477932;15489334 157777 B4DXX4;F8WCM6;F8WDR8;G3XAN3;Q4G0Z9 AA928149;ABBA01041882;AC011031;AK098558;AK302169;AK302672;AK303003;AK304170;AL833526;AMYH02018116;AMYH02018117;BC034576;BC063108;BG722401;BX537587;CH471068;NM_001136160;NM_001136161;NM_173518;XM_005251174;XM_006716427;XM_006716428;XM_006716429;XM_006716430;XM_006716431;XM_006716432;XM_006716433 AAH34576;AAH63108;BAC05333;BAG63536;BAG63905;BAG64136;BAG65055;CAD97790;EAW86921;EAW86922;EAW86923;NP_001129632;NP_001129633;NP_775789;Q4G0Z9;XP_005251231;XP_006716490;XP_006716491;XP_006716492;XP_006716493;XP_006716494;XP_006716495;XP_006716496 Hs.437006 1647136;1653537;2161197;5022651 D11S2921;RH47443;RH47823;STS-AA035428 C8orf45;FLJ25692 MCM domain-containing protein 2;MCM domain-containing protein C8orf45;OTTHUMP00000211426;OTTHUMP00000211427;OTTHUMP00000211429;OTTHUMP00000228341;minichromosome maintenance complex component-like;uncharacterized protein C8orf45 APPROVED protein-coding ENSG00000178460 HGNC:26368 08072 VALIDATED 1313696 MCM9 minichromosome maintenance complex component 9 The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010] 6 6 6 q22.31 119976419 120000945 - 119134612 119256327 - 118813449 118935162 - 6480464 12477932;14574404;14702039;15850810;16226853;16495042;18657502;19292915;19342892;21139048;21145461;21906983;23401855;23403237;25036637;8125298 254394 D6RE85;D6RHY8;H0Y6M9;Q9NXL9 ABBA01026024;ABBA01026025;AC247045;AK000177;AK122665;AK225233;AK299076;AL132874;AL359634;BC024976;BC031658;BN000882;BX649114;CH471051;DB453085;DB476942;FP885910;NM_017696;NM_153255 AAH31658;ABM83391;ABM86604;BAA90991;BAG53653;BAG61142;CAJ70648;EAW48191;EAW48192;NP_060166;NP_694987;Q9NXL9 Hs.279008;Hs.733116;Hs.736853 1698124;2158417;2172176 RH102595;RH46678;SHGC-31008 C6orf61;FLJ13942;FLJ20170;FLJ56845;MCMDC1;MGC35304;dJ329L24.1;dJ329L24.3;hMCM9 DNA helicase MCM9;DNA replication licensing factor MCM9;OTTHUMP00000017098;OTTHUMP00000017099;mini-chromosome maintenance deficient domain-containing protein 1;minichromosome maintenance 9;minichromosome maintenance deficient domain containing 1 APPROVED protein-coding ENSG00000111877 HGNC:21484 17472 610098 REVIEWED 1347363 MCM7 minichromosome maintenance complex component 7 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 7 7 7 q21.3-q22.1 94425063 94434086 - 99690351 99699563 - 100092728 100101940 - 1580863;2317697;2317698;6480464;6907045;8554872 15548371;17394799 10436018;10454562;10464337;10473096;10518787;10567526;10649446;10722676;10748114;10846177;11056214;11095689;11248027;11779870;11861392;11931757;12045100;12207017;12477932;12519773;12614612;12690205;12694531;12771218;12791985;14516785;14550576;14678972;14702039;14743216;15123239;15210935;15226314;15232106;15236977;15489334;15538388;15635413;15654075;15707391;15720416;16189514;16196087;16247466;16289477;16335966;16344560;16438930;16703398;16902406;16912045;17094475;1710453;17296731;17310990;17314511;17353931;17557111;17623298;18029348;18072282;18162579;18247557;18636144;18781797;19144445;19189662;19270065;19318354;19389623;19401682;19454010;19471022;19486527;19596686;19696745;19738201;19805216;19834905;19862764;19946888;20048674;20098747;20236609;20388916;20473970;20508983;20639865;20661220;20811636;20953179;21055985;21076460;21078875;21081666;21139048;21145461;21149733;21252943;21319273;21383955;21415862;21478101;21619671;21658608;21832049;21880767;21890473;21906983;21963094;21965782;21987572;21988832;22053931;22058115;22108332;22145905;22190034;22268729;22407294;22456526;22505724;22623428;22784096;22863883;22918583;22939629;23000965;23125841;23166591;23201130;23313748;23318911;23443559;23602568;23703321;23720738;23764002;23803736;23824909;23860238;24190967;24239288;24244333;24324072;24416400;24457600;24816145;24958773;25015289;25027693;25036637;7601140;7842741;8258304;8265339;8619474;8626784;8631321;8652665;8798650;9099751;9110174;9133452;9223437;9305914;9566894;9714754;9852095 4176 C6EMX8;C9J8M6;H0YH42;P33993 AB004270;ABBA01013238;AC073842;AF279900;AI083651;AK055379;AK096959;AK226175;AK293172;AK314575;AMYH02016371;AY007130;BC009398;BC013375;CH236956;CH471091;D55716;D86748;DA253520;DA397394;DA538092;HH769510;JB259164;NM_001278595;NM_005916;NM_182776;X74796;XM_005250348 AAG01994;AAH09398;AAH13375;AAK07555;ABM86873;ABW03896;BAA09534;BAG37153;BAG51508;BAG53399;BAG56716;BAH84845;CAA52803;CBX85483;CDH61696;EAL23855;EAL23856;EAW76598;EAW76599;EAW76600;NP_001265524;NP_005907;NP_877577;P33993;XP_005250405 Hs.438720 1757283;1788738;1855782;2114981;2135181;2181167;5110673 D7S2929;RH128042;RH47672;RH65692;RH78474;SHGC-144694;WI-19563 CDABP0042;CDC47;MCM2;P1.1-MCM3;P1CDC47;P85MCM;PNAS-146;PNAS146;PPP1R104 CDC47 homolog;DNA replication licensing factor MCM7;OTTHUMP00000206385;homolog of S. cerevisiae Cdc47;mcm7 minichromosome maintenance deficient 7 (s. cerevisiae);minichromosome maintenance deficient 7 APPROVED protein-coding ENSG00000166508 HGNC:6950 01154 600592 REVIEWED 1315334 MCM5 minichromosome maintenance complex component 5 The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 19598790 19623167 + 35796116 35820495 + 35400063 35454094 + 1580863;6480464;6907045 10327050;10436018;10454562;10591208;10846177;11095689;11248027;11839717;11931757;12045100;12364596;12477932;12614612;12791985;14702039;14743216;15226314;15232106;15236977;15324660;15385968;15461802;15489334;15635413;15696126;15707391;16189514;16199513;16335966;16341674;16902406;17296731;17353931;17557111;17940502;17988337;18181189;18239623;18247557;18274552;18465232;18799789;19074885;19130399;19318354;19531213;19615732;19738201;19862764;19946888;20085707;20508983;20694513;21055985;21081666;21106093;21139048;21149733;21233845;21252943;21478101;21832049;21890473;21900206;21906983;21963094;21987572;22268729;22505724;22586326;22623428;22863883;22918583;22939629;22944692;23000965;23022380;23095216;23463506;23824909;24190967;24457600;24816145;25027693;25036637;7705359;8125298;8265339;8751386;8798650;9099751;9223437;9843502 4174 B1AHA9;B1AHB0;B1AHB1;B1AHB2;F8WFD7;P33992 AB209612;ABBA01055413;ABBA01055414;AK122853;AK130620;AK223323;AK291136;AK298624;AK301121;AK308343;AK312533;AMYH02038301;AMYH02038302;AY212028;BC000142;BC003656;BM787690;BX936361;CH471095;CR456517;D83986;FO393417;HH769500;NM_006739;X74795;XM_006724242;Z82244 AAH00142;AAH03656;AAO21127;BAA12176;BAD92849;BAD97043;BAF83825;BAG35432;BAG53762;BAG60801;BAG62717;CAA52802;CAG30403;CAK54548;CAK54847;CBX85478;EAW60060;EAW60061;EAW60062;EAW60063;NP_006730;P33992;XP_006724305 Hs.517582 2108247;2132886;2180886 AL008648;MCM5_7823;SGC35494 CDC46;MGC5315;P1-CDC46 CDC46 homolog;DNA replication licensing factor MCM5;MCM5 minichromosome maintenance deficient 5, cell division cycle 46;OTTHUMP00000198814;OTTHUMP00000198821;mcm5 minichromosome maintenance deficient 5, cell division cycle 46 (s. cerevisiae);minichromosome maintenance deficient 5 (cell division cycle 46) APPROVED protein-coding ENSG00000100297 HGNC:6948 04075 602696 REVIEWED 1351745 MCPH2 microcephaly, primary autosomal recessive 2 ASSOCIATED WITH Microcephaly, Primary Autosomal Recessive, 2 (inferred) 7240710 4181 HGNC:6955 604317 1343826 MCPH3 microcephaly, primary autosomal recessive 3 ASSOCIATED WITH Microcephaly, Primary Autosomal Recessive, 3 (inferred) 7240710 23702 HGNC:6956 604804 1315515 MCMBP minichromosome maintenance complex binding protein This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 10 10 10 q26.11 115320043 115363436 - 121588916 121633140 - 119829404 119873628 - 737633;6480464;8554872 12477932 14702039;15146197;15489334;16189514;16344560;16385451;16964243;17296731;18029348;19615732;20090939;20562859;20972266;21139048;21145461;21196493;21252943;21890473;21906983;21963094;21987572;22053931;22250201;22505724;22540012;22797925;22863883;24190967;24250222;24816145;25036637 79892 Q9BTE3 AA292620;ABBA01062885;AC027672;AK001928;AK023143;AK094075;AMYH02023913;AMYH02023914;AMYH02023915;BC000935;BC004183;BC007219;BQ929053;CH471066;CN259319;CR457299;DA381502;NM_001256378;NM_001256379;NM_024834;XM_005270157 AAH00935;AAH04183;AAH07219;BAB14427;BAG52809;CAG33580;EAW49375;EAW49376;EAW49377;EAW49378;NP_001243307;NP_001243308;NP_079110;Q9BTE3;XP_005270214 Hs.124246 1655707;1703176;2178166;5019625;5022578 A005M41;D1S1423;G32243;SGC32380;WI-17160 C10orf119;FLJ13081;FLJ36756;MCM-BP MCM-binding protein;OTTHUMP00000020611;OTTHUMP00000020612;chromosome 10 open reading frame 119;mini-chromosome maintenance complex-binding protein;minichromosome maintenance complex-binding protein APPROVED protein-coding ENSG00000197771 HGNC:25782 07624 610909 VALIDATED 1319026 MCOLN1 mucolipin 1 This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009] 19 19 19 p13.2 7460019 7471418 + 7587496 7598895 + 7522610 7534009 + 1599926;1580863;6480464;7204689;7240710;8554872;8699517 10973263;20716668 10441585;11013137;11030752;11317355;11318610;11326278;11845410;12125810;12182165;12459486;12477932;14702039;14749347;15070744;15178326;15336987;15345747;15489334;15523648;16133264;16169070;16257972;16287144;16361256;16382100;16517607;16606612;16645217;16978393;17239335;17306511;17897319;17924347;17988215;18029348;18264947;18504305;18794901;19006653;19638346;19763610;19864416;19885840;20301393;20736310;20864526;21224396;21256127;21290297;21540176;21613607;21889421;22262857;22415822;22733759;23047439;23368743;23418601;23685283;24192042;2874839;8125298 57192 M0QXD0;M0R1X7;Q9GZU1 AA831948;ABBA01010900;AC008878;AF171088;AF249319;AF287269;AF287270;AF305579;AJ293659;AJ293970;AK026102;AK222673;AK294330;AK310109;AMYH02035399;BC005149;CH471139;DC356874;NG_015806;NM_020533 AAG00797;AAG00798;AAG10422;AAG42242;AAH05149;AAQ13604;ABM82770;ABM85958;BAB15360;BAD96393;BAG57602;CAC07813;CAC08215;EAW69031;EAW69032;EAW69033;EAW69034;NP_065394;Q9GZU1 Hs.631858 1655491;1680104;1681955;1685281;1795042;5037552;5037554 D8S2279;D8S2282;PMC88885P1;RH68764;RH80512;RH91529;RH93812 MG-2;ML4;MLIV;MST080;MSTP080;TRP-ML1;TRPM-L1;TRPML1 mucolipidin;mucolipidosis type IV protein;mucolipin-1 APPROVED protein-coding ENSG00000090674 HGNC:13356 05582 252650;605248 REVIEWED 1346684 MCPH4 microcephaly, primary autosomal recessive 4 ASSOCIATED WITH Microcephaly, Primary Autosomal Recessive, 4 (inferred); SECKEL SYNDROME 5 (inferred) 7240710 23701 HGNC:6957 604321;613823 1344440 MCPH6 microcephaly, primary autosomal recessive 6 ASSOCIATED WITH Microcephaly, Primary Autosomal Recessive, 6 (inferred); SECKEL SYNDROME 4 (inferred) 7240710 170629 HGNC:17120 608393;613676 1342873 MCPHA microcephaly, Amish ASSOCIATED WITH Amish lethal microcephaly (inferred); THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (inferred) 7240710 246765 HGNC:15665 607196;613710 1318177 MCOLN3 mucolipin 3 This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 1 1 1 p22.3 83727669 83758074 - 85483765 85514585 - 85018082 85048902 - 1580863;6480464;8554872 11326278;12403827;12477932;14702039;15342556;16382100;16606612;16710414;16712791;17962195;18162548;18369318;19299509;19497048;19522758;19885840;20378547;20736310;21890473;22753890;23469151;23602568;24269818 55283 B1ANB7;Q8TDD5;S4R386 ABBA01045645;ABBA01045646;AF475085;AK001868;AK093948;AK095148;AK292206;AK314354;AL358789;AMYH02001381;BC060765;BP358726;BQ006750;BU634119;BX483450;BX647497;CB159774;CH471097;JA738735;NM_001253693;NM_018298;W03483;XM_005271003;XM_006710750;XM_006710751;XM_006710752 AAH60765;AAL84622;BAA91951;BAF84895;CCF77020;EAW73215;EAW73216;EAW73217;EAW73218;NP_001240622;NP_060768;Q8TDD5;XP_005271060;XP_006710813;XP_006710814;XP_006710815 Hs.535239 FLJ11006;FLJ36629;MGC71509;TRP-ML3;TRPML3 OTTHUMP00000011616;OTTHUMP00000011617;mucolipin-3 APPROVED protein-coding ENSG00000055732 HGNC:13358 09585 607400 VALIDATED 1351022 MCS Miles-Carpenter X-linked mental retardation syndrome ASSOCIATED WITH Miles-Carpenter x-linked mental retardation syndrome (inferred) 7240710 1605216;2018061 4183 HGNC:6961 309605 1605937 MCTP1 multiple C2 domains, transmembrane 1 ENCODES a protein that exhibits calcium ion binding; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane; INTERACTS WITH 17beta-estradiol; 3,4-dichloroaniline; all-trans-retinoic acid 5 5 5 q15 89904181 90498783 - 94038280 94620279 - 94703690 95284575 - 6480464;8554872 12477932;14702039;15203218;15528213;19416921;20379614;23568457 79772 D6R8Z9;D6RA42;D6RC97;E5RJR1;H0Y8M9;H0Y9S8;H0Y9Y6;H0YA70;Q6DN14 ABBA01069256;ABBA01069257;ABBA01069258;ABBA01069259;ABBA01069260;ABBA01069261;ABBA01069262;ABBA01069263;ABBA01069264;ABBA01069265;ABBA01069266;ABBA01069267;ABBA01069268;AC008534;AC008573;AC010362;AC012312;AC099507;AK025997;AK057694;AK058012;AK091330;AK297325;AMYH02011814;AMYH02011815;AMYH02011816;AMYH02011817;AY656715;AY656716;BC030005;BQ003171;CD632270;CH471084;DC410959;DC422762;KF510930;NM_001002796;NM_001297777;NM_024717;XM_005272082;XM_005272083;XM_005272084;XM_005272085;XM_005272086;XM_005272087;XM_005272088;XM_005272089;XM_005272090;XM_005272091;XM_006714692;XM_006714693;XM_006714694;XR_427720 AAH30005;AAT73058;AAT73059;BAB15311;BAB71547;BAC03637;BAH12547;EAW96031;EAW96032;EAW96033;NP_001002796;NP_001284706;NP_078993;Q6DN14;XP_005272139;XP_005272140;XP_005272141;XP_005272142;XP_005272143;XP_005272144;XP_005272145;XP_005272146;XP_005272147;XP_005272148;XP_006714755;XP_006714756;XP_006714757 Hs.591248;Hs.655087 1703732;1712589;1712675;1724887;1752081;1761553;1772469;1776967;1777021;1847115;1856027;2114420;2118343;2119926;2135600;2143262;2148957;2154174;2154176;2159469 1790;A002B42;A007H21;AFM205wg7;D5S1450;D5S1628E;D5S1649E;D5S2468;D5S2486;G19904;L28355;L28422;RH119208;RH120103;RH122001;RH66318;SHGC-106024;SHGC-145548;SHGC-2934;SHGC-78910 FLJ22344 OTTHUMP00000222616;OTTHUMP00000222618;OTTHUMP00000222620;OTTHUMP00000222621;OTTHUMP00000222622;OTTHUMP00000222671;OTTHUMP00000225845;multiple C2 and transmembrane domain-containing protein 1;multiple C2-domains with two transmembrane regions 1 protein-coding ENSG00000175471 HGNC:26183 08652 VALIDATED 1351081 MCTS1 malignant T cell amplified sequence 1 ENCODES a protein that exhibits translation initiation factor activity (inferred); INVOLVED IN formation of translation preinitiation complex; IRES-dependent translational initiation; ribosome disassembly; FOUND IN cytoplasm; cytosolic small ribosomal subunit; plasma membrane; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; 1-chloro-2,4-dinitrobenzene X X X q24 120202071 120219337 + 119737744 119755014 + 120603889 120621159 + 1580863;6480464 11709712;12477932;12637315;12938157;14702039;15342556;16169070;17207965;17549794;18824261;19372582;20076993;20658178;20823576;21138557;21139048;21890473;21963094;22336915;22863883;22939629;23000965;23258846;7566098;8889548;9766643 28985 Q8NHH5;Q9ULC4 AA375691;AB034206;ABBA01036051;ABBA01036052;ABBA01049573;ABBA01049574;AC011890;AF456465;AK096956;AK294834;AK311993;AMYH02040364;AMYH02040365;AW957695;AY364258;BC001013;BC095461;BM671542;BP226595;CH471107;NM_001137554;NM_014060 AAH01013;AAH95461;AAM50513;AAQ76817;ADQ33199;BAA86055;BAG34931;BAG57943;EAX11874;EAX11875;NP_001131026;NP_054779;Q9ULC4 Hs.102696;Hs.670803 1777979;5015881;5016478;5021872;5022578;5022651;5024605;5037552;5118444 D11S2921;D11S3316;D1S1423;D8S2279;DXS8324;GDB:335751;GDB:434012;RH75489;sY3084 FLJ39637;MCT-1;MCT1 OTTHUMP00000023950;OTTHUMP00000023951;malignant T cell-amplified sequence 1;malignant T-cell-amplified sequence 1;multiple copies T-cell malignancies protein-coding HGNC:23357 06634 300587 VALIDATED 1603987 MCTP2 multiple C2 domains, transmembrane 2 ENCODES a protein that exhibits calcium ion binding; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane; membrane; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; copper atom 15 15 15 q26.2 71256603 71442889 + 94774772 95027181 + 94231543 94483952 + 6480464;8554872 12477932;14702039;15342556;15528213;16344560;18367154;19223264;19483685;19946888;20125193;20379614;21139048;21658281;21832049;23028342;23362303;23773997;24009623;24322204 55784 F5H415;Q6DN12 ABBA01032434;ABBA01032435;ABBA01032436;AC103749;AC110027;AC135626;AK001953;AK002037;AK026984;AK090622;AK300325;AL360258;AL697863;AL832048;AL832717;AMYH02031099;AMYH02031100;AMYH02031101;AMYH02031102;AMYH02031103;AX878051;AY656717;BC025708;BC041387;BC111024;BC131527;BP292512;CH471101;DA450908;DA862691;FJ515839;NM_001159643;NM_001159644;NM_018349;XM_005254955;XM_005254957;XM_005254958;XM_005254959;XM_005254960;XM_006720602;XM_006720603 AAH25708;AAH41387;AAI11025;AAI31528;AAT73060;ACS13731;ACS13732;BAA91998;BAA92048;BAH13258;CAB96177;CAE89988;EAX02180;NP_001153115;NP_001153116;NP_060819;Q6DN12;XP_005255012;XP_005255014;XP_005255015;XP_005255016;XP_005255017;XP_006720665;XP_006720666 Hs.33368 1338561;1338593;1649089;1714037;1714069;2131023;2131195;2170083;2187438;5128449 D15S1038;D15S816;G10401;G31452;RH119450;RH119638;RH46429;SHGC-132623;SHGC-36666;SHGC-36676 FLJ11175;FLJ33303;MGC111402;RP11-4F5.2 OTTHUMP00000246832;multiple C2 and transmembrane domain-containing protein 2;multiple C2-domains with two transmembrane regions 2 1 protein-coding ENSG00000140563 HGNC:25636 07738 VALIDATED 1323153 MCRS1 microspherule protein 1 ENCODES a protein that exhibits histone acetyltransferase activity (H4-K16 specific); histone acetyltransferase activity (H4-K5 specific); histone acetyltransferase activity (H4-K8 specific); INVOLVED IN histone H4-K16 acetylation; histone H4-K5 acetylation; histone H4-K8 acetylation; PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN histone acetyltransferase complex; Ino80 complex; MLL1 complex; INTERACTS WITH 2-methylcholine; Aroclor 1254; cobalt dichloride 12 12 12 q13.12 48746544 48756370 - 49952077 49961928 - 49558294 49568145 - 1580863;6480464;9495926 21502417 11948183;12477932;14667819;15044100;15231747;15345747;15489334;15829507;15960975;16186106;16189514;16547491;16565220;16571602;16964243;17014843;17081983;17109818;17353931;17721549;18029348;18798870;18922472;19060904;19187526;19549253;20360068;20479123;21139048;21303910;21533551;21906983;22081094;22563078;22609355;22773039;22975844;22990118;22994740;23069210;23225332;23455924;23519485;23996240;24250222;24361335;24816145;9654073;9765390 10445 F8VP44;F8VVA6;F8VZC2;F8W0I9;F8W126;H0YI67;H0YIA0;Q96EZ8 ABBA01031528;AC020612;AF015308;AF068007;AK308581;AMYH02026447;AY336730;BC011794;BX538079;CH471111;HY078747;NM_001012300;NM_001278341;NM_006337;R66413;XM_005268572;XM_005268573 AAC52086;AAC68599;AAH11794;AAQ84517;ABM83813;ABW03528;CAD98003;EAW58075;EAW58076;EAW58077;EAW58078;EAW58079;EAW58080;NP_001012300;NP_001265270;NP_006328;Q96EZ8;XP_005268629;XP_005268630 Hs.25313 1648320;1658299;2108819;2118547;5127359 MCRS1_9110;RH41888;RH77809;STS-AA099057;STS-F09935 ICP22BP;INO80Q;MCRS2;MSP58;P78 58 kDa microspherule protein;INO80 complex subunit J;INO80 complex subunit Q;OTTHUMP00000241702;OTTHUMP00000241703;OTTHUMP00000241706;OTTHUMP00000242564;cell cycle-regulated factor (78 kDa);cell cycle-regulated factor p78 protein-coding ENSG00000187778 HGNC:6960 11298 609504 VALIDATED 1343502 MCU mitochondrial calcium uniporter This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 10 10 10 q22.1 67737028 67932591 + 74451889 74647452 + 72692131 72887694 + 6480464;7204696 22850819 12477932;15489334;18029348;18614015;19322201;20186120;20877624;21139048;21685886;21685888;21906983;21934651;22123069;22605770;22672876;22904319;22939629;23400777;23602897;24815697;24816145 90550 Q8NE86;S4R319;S4R332;S4R3F5;S4R3W8;S4R468 ABBA01020345;ABBA01020346;ABBA01020347;ABBA01020348;ABBA01020349;ABBA01020350;AC016542;AC069548;AK025699;AK075439;AK128016;AK301475;AK310455;AK311133;AK315519;AMYH02023323;AMYH02023324;AMYH02023325;AMYH02023326;AMYH02023327;BC010682;BC034235;CH471083;HY146050;KF455255;NM_001270679;NM_001270680;NM_138357;NR_073062 AAH10682;AAH34235;ADZ15882;BAG37900;BAG54619;BAG62992;EAW54460;EAW54461;EAW54462;NP_001257608;NP_001257609;NP_612366;Q8NE86 Hs.591366 1646999;1668017;1777114;2124416;2128283;5020575 AFMa066ya9;RH138309;RH44569;RH44656;SHGC-33194;SHGC-36107 C10orf42;CCDC109A;FLJ46135 OTTHUMP00000019789;OTTHUMP00000019790;calcium uniporter protein, mitochondrial;coiled-coil domain containing 109A;coiled-coil domain-containing protein 109A APPROVED protein-coding ENSG00000156026 HGNC:23526 10696 614197 REVIEWED 8548576 MCTS2P malignant T cell amplified sequence 2, pseudogene INTERACTS WITH paracetamol (ortholog) 20 20 20 q11.2 26891366 26892204 + 30135185 30136023 + 31547382 31548220 + 6480464 16815567;24402520 100101490 ABBA01019305;AL110115;AMYH02036896;BQ051214;BX401565;NR_003677 Hs.373741;Hs.710741 MCTS2;PSIMCT-1 pseudo HGNC:49760 VALIDATED 1318909 MCOLN2 mucolipin 2 Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009] 1 1 1 p22 83635160 83706701 - 85391266 85462796 - 84925583 84997113 - 1580863;6480464;8554872 12403827;12477932;14702039;16382100;16606612;17662026;19763610;19885840;19940139;20379614;20736310;22753890 255231 G5EA24;Q8IZK6 ABBA01045646;ABBA01045647;ABBA01045648;AK094010;AK129786;AK309858;AL139150;AL358789;AMYH02001381;AV713773;AY083533;BC104891;BC104893;BF512441;CH471097;JA738659;NM_153259;XM_005270719;XM_005270720;XM_006710552 AAI04892;AAI04894;AAM08926;BAC04267;CCF76982;EAW73219;EAW73220;EAW73221;NP_694991;Q8IZK6;XP_005270776;XP_005270777;XP_006710615 Hs.591446 1699464;1705282;2107337 MCOLN2__7385;RH103324;SHGC-78598 FLJ36691;TRP-ML2;TRPML2 OTTHUMP00000011614;OTTHUMP00000228588;mucolipin-2 APPROVED protein-coding ENSG00000153898 HGNC:13357 09584 607399 REVIEWED 1353447 MDCR Miller-Dieker syndrome chromosome region 4186 HGNC:6964 1348817 MDC1 mediator of DNA-damage checkpoint 1 The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 32265722 32283590 - 30667584 30685458 - 30699807 30717681 - 1580863;6480464;8661232;9479074;8554872;8661242 21533982;23642229;24002223 10975465;12475977;12477932;12499369;12551934;12556884;12607003;12607004;12607005;12611903;14519663;14574404;14578343;14695167;15201865;15279781;15302935;15377652;15569676;15604234;15734998;15784679;16009723;16049003;16051665;16186822;16377563;16427010;16872911;16901786;17081983;17158742;17525332;17535811;17546051;17577209;17827148;17884766;17925396;17977515;18001824;18001825;18006705;18029348;18173747;18411307;18471438;18582474;18583988;18635967;18664457;18678890;18757370;18986980;19001859;19074885;19322201;19394292;19471022;19505873;19638463;19690177;19759913;19766185;19797077;19804756;19826003;19851445;20023648;20081839;20159462;20224574;20364298;20394854;20460517;20521098;20529673;20587610;20729195;20813677;21139048;21148072;21293379;21482717;21551225;21622030;21676867;21784059;21853275;21857162;21890473;21906983;22108332;22211259;22234878;22273583;22412018;22586326;22635276;22661229;22661230;22677490;22860035;22942284;22962268;22990118;23038782;23115235;23145133;23230272;23382691;23891287;24239288;24240613;24332808;24349352;24457600;24509855;8724849 9656 A1Z5I7;A1Z5I9;A2AB05;A2AB06;A2AB07;H0Y6Z8;Q14676 AB088099;AB202097;ABBA01038054;AK298749;AK302434;AL662797;AL662848;AL845353;AMYH02013437;BA000025;BC110645;BC131491;BC152556;BU621433;BX248307;BX927283;CH471081;CR749828;CR759873;CR788240;CR936878;D79992;EF177820;EF177821;EF177822;EF177823;NM_014641;XM_005249492;XM_005249493;XM_005249494;XM_005249497;XM_005249498;XM_005272909;XM_005272910;XM_005272911;XM_005272914;XM_005272915;XM_005274899;XM_005274900;XM_005274901;XM_005274904;XM_005274905;XM_005275065;XM_005275066;XM_005275067;XM_005275070;XM_005275071;XM_005275196;XM_005275198;XM_005275199;XM_005275200;XM_005275321;XM_005275322;XM_005275323;XM_005275326;XM_005275327;XM_005275492;XM_005275493;XM_005275494;XM_005275497;XM_005275498;XM_005275629;XM_005275630;XM_005275631;XM_005275634;XM_005275635;XM_006725856 AAI10646;AAI52557;ABM47418;ABM47419;ABM47420;ABM47421;BAA11487;BAB63322;BAC54931;BAE78617;BAG60892;BAG63736;CAH18685;EAX03321;NP_055456;Q14676;XP_005249549;XP_005249550;XP_005249551;XP_005249554;XP_005249555;XP_005272966;XP_005272967;XP_005272968;XP_005272971;XP_005272972;XP_005274956;XP_005274957;XP_005274958;XP_005274961;XP_005274962;XP_005275122;XP_005275123;XP_005275124;XP_005275127;XP_005275128;XP_005275253;XP_005275255;XP_005275256;XP_005275257;XP_005275378;XP_005275379;XP_005275380;XP_005275383;XP_005275384;XP_005275549;XP_005275550;XP_005275551;XP_005275554;XP_005275555;XP_005275686;XP_005275687;XP_005275688;XP_005275691;XP_005275692;XP_006725919 Hs.653495 1671884;1759801;1774625;2126831 RH25387;RH36324;SHGC-170044;WI-15445 DKFZp781A0122;KIAA0170;MGC166888;NFBD1 OTTHUMP00000029090;homologue to Drosophila photoreceptor protein calphotin;mediator of DNA damage checkpoint 1;mediator of DNA damage checkpoint protein 1;nuclear factor with BRCT domains 1 APPROVED protein-coding ENSG00000137337 HGNC:21163 16252 607593 REVIEWED 1349094 MCUR1 mitochondrial calcium uniporter regulator 1 INVOLVED IN calcium ion import; mitochondrial calcium ion transport; positive regulation of mitochondrial calcium ion concentration; FOUND IN integral component of mitochondrial inner membrane; INTERACTS WITH 2-methylcholine; bisphenol A; copper(2+) sulfate 6 6 6 p23 15030815 15054586 - 13786781 13814794 - 13786549 13814562 - 6480464 12477932;14702039;15342556;16344560;20877624;23178883 63933 Q96AQ8;U3KQP8 ABBA01022132;ABBA01022133;AI309194;AK024611;AK123750;AL023583;AMYH02013142;BC008234;BC016850;BP382285;BX640678;CH471087;DA892975;NM_001031713;XR_241912 AAH08234;AAH16850;BAB14934;EAW55346;EAW55347;EAW55348;NP_001026883;Q96AQ8 Hs.214043 1684377;1739761;1754409;1856962;2145788;5014063;5015959;5022651 D10S2448;D11S2921;D15S1390;D1S2504E;RH16354;RH99047;SHGC-132423;SHGC-31321 C6orf79;CCDC90A;FLJ20958 OTTHUMP00000016056;chromosome 6 open reading frame 79;coiled-coil domain containing 90A;coiled-coil domain-containing protein 90A, mitochondrial APPROVED protein-coding ENSG00000050393 HGNC:21097 12833 VALIDATED 1323826 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 75049377 75052475 + 89984287 89987385 + 89917879 89920977 + 1600618;1600619;1580863;5144213;5687320;5687324;5687198;5687319;5687321;5687323;5687317;6480464;6484136;6484138;6484659;7240710;5687322;8554872 11030758;16543288;17434924;18304533;18757499;18790174;19889022;20126537;20357480;20852827;21052032;22183812;8110467;8894704 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HC11126;AHC11129;AHC11131;AHC11133;AHC11135;AHC11136;AHC11139;AHC11141;AHC11142;AHC11143;AHC11145;AHC11147;AHC11149;AHC11150;AHC11151;AHC11155;AHC11156;AHC11157;AHC11159;AHC11161;AHC11162;AHC11163;AHC11165;AHC11166;AHC11167;AHC11168;AHC11169;AHC11171;AHC11173;AHC11175;AHC11177;AHC11178;AHC11179;AHC11180;AHC11181;AHC11182;AHC11183;AHC11187;AHC11188;AHC11189;AHC11193;AHC11195;AHC11197;AHC11199;AHC11201;AHC11203;AHC11204;AHC11205;AHC11207;AHC11208;AHC11209;AHC11210;AHC11211;AHC11213;AHC11214;AHC11215;AHC11217;AHC11218;AHC11219;AHC11221;AHC11223;AHC11225;AHC11227;AHC11228;AHC11229;AHC11230;AHC11231;AHC11233;AHC11234;AHC11235;AHC11236;AHC11237;AHC11238;AHC11239;AHC11240;AHC11241;AHC11242;AHC11243;AHC11245;AHC11246;AHC11249;AHC11251;AHC11253;AHC11254;AHC11255;AHC11259;AHC11261;AHC11263;AHC11264;AHC11265;AHC11267;AHC11268;AHC11269;AHC11273;AHC11274;AHC11275;AHC11276;AHC11277;AHC11278;AHC11279;AHC11280;AHC11283;AHC11284;AHC11289;AHC11291;AHC11293;AHC11295;AHC11296;AHC11299;AHC11300;AHC11301;AHC11303;AHC11305;AHC11311;AHC11312;AHC11315;AHC11316;AHC11317;AHC11318;AHC11319;AHC11321;AHC11323;AHC11325;AHC11327;AHC11328;AHC11329;AHC11331;AHC11333;AHC11335;AHC11337;AHC11338;AHC11339;AHC11341;AHC11342;AHC11345;AHC11346;AHC11347;AHC11349;AHC11350;AHC11351;AHC11353;AHC11354;AHC11355;AHC11356;AHC11357;AHC11359;AHC11361;AHC11363;AHC11365;AHC11367;AHC11368;AHC11369;AHC11370;AHC11371;AHC11372;AHC11373;AHC11374;AHC11375;AHC11377;AHC11378;AHC11379;AHC11381;AHC11383;AHC11385;AHC11386;AHC11387;AHC11388;AHC11389;AHC11390;AHC11391;AHC11393;AHC11394;AHC11395;AHC11396;AHC11397;AHC11399;AHC11403;AHC11404;AHC11405;AHC11406;AHC11409;AHC11410;AHC11411;AHC11412;AHC11413;AHC11414;AHC11415;AHC11419;AHC11420;AHC11423;AHC11425;AHC11426;AHC11427;AHC11429;AHC11430;AHC11431;AHC11432;AHC11433;AHC11434;AHC11435;AHC11436;AHC11437;AHC11439;AHC11440;AHC11441;AHC11443;AHC11444;AHC11447;AHC11449;AHC11451;AHC11453;AHC11454;AHC11455;AHC11456;AHC11459;AHC11460;AHC11461;AHC11462;AHC11463;AHC11465;AHC11467;AHC11469;AHC11470;AHC11471;AHC11473;AHC11474;AHC11475;AHC11477;AHC11479;AHC11480;AHC11481;AHC11483;AHC11484;AHC11485;AHC11486;AHC11487;AHC11488;AHC11489;AHC11490;AHC11493;AHC11495;AHC11496;AHC11497;AHC11498;AHC11501;AHC11502;AHC11503;AHC11504;AHC11507;AHC11508;AHC11509;AHC11510;AHC11511;AHC11513;AHC11514;AHC11515;AHC11517;AHC11518;AHC11519;AHC11520;AHC11521;AHC11522;AHC11525;AHC11527;AHC11528;AHC11529;AHC11531;AHC11532;AHC11533;AHC11534;AHC11535;AHC11536;AHC11537;AHC11539;AHC11541;AHC11543;AHC11544;AHC11545;AHC11547;AHC11549;AHC11550;AHC11551;AHC11552;AHC11553;AHC11554;AHC11555;AHC11557;AHC11559;AHC11560;AHC11561;AHC11563;AHC11564;AHC11565;AHC11569;AHC11570;AHC11571;AHC11572;AHC11573;AHC11575;AHC11576;AHC11579;AHC11580;AHC11581;AHC11583;AHC11584;AHC11585;AHC11586;AHC11587;AHC11589;AHC11591;AHC11592;AHC11593;AHC11594;AHC11595;AHC11596;AHC11599;AHC11600;AHC11603;AHC11605;AHC11609;AHC11610;AHC11611;AHC11612;AHC11613;AHC11614;AHC11617;AHC11618;AHC11619;AHC11620;AHC11621;AHC11623;AHC11625;AHC11626;AHC11627;AHC11628;AHC11629;AHC11635;AHC11636;AHC11637;AHC11638;AHC11639;AHC11641;AHC11642;AHC11643;AHC11644;AHC11645;AHC11646;AHC11647;AHC11649;AHC11651;AHC11652;AHC11653;AHC11654;AHC11655;AHC11657;AHC11659;AHC11660;AHC11661;AHC11663;AHC11665;AHC11667;AHC11668;AHC11669;AHC11671;AHC11672;AHC11673;AHC11674;AHC11675;AHC11676;AHC11677;AHC11678;AHC11681;AHC11682;AHC11683;AHC11684;AHC11685;AHC11687;AHC11689;AHC11690;AHC11691;AHC11693;AHC11695;AHC11697;AHC11699;AHC11701;AHC11703;AHC11704;AHC11705;AHC11706;AHC11707;AHC11709;AHC11711;AHC11712;AHC11713;AHC11717;AHC11719;AHC11720;AHC11721;AHC11722;AHC11723;AHC11724;AHC11725;AHC11726;AHC11727;AHC11729;AHC11731;AHC11732;AHC11735;AHC11736;AHC11737;AHC11738;AHC11739;AHC11741;AHC11743;AHC11745;AHC11747;AHC11749;AHC11751;AHC11752;AHC11753;AHC11754;AHC11755;AHC11756;AHC11757;AHC11758;AHC11759;AHC11760;AHC11761;AHC11762;AHC11763;AHC11765;AHC11769;AHC11770;AHC11773;AHC11774;AHC11775;AHC11776;AHC11779;AHC11781;AHC11782;AHC11783;AHC11785;AHC11786;AHC11787;AHC11789;AHC11790;AHC11791;AHC11793;AHC11795;AHC11796;AHC11797;AHC11798;AHC11799;AHC11800;AHC11801;AHC11802;AHC11803;AHC11804;AHC11807;AHC11808;AHC11811;AHC11812;AHC11813;AHC11815;AHC11817;AHC11819;AHC11820;AHC11821;AHC11823;AHC11824;AHC11825;AHC11827;AHC11828;AHC11829;AHC11831;AHC11832;AHC11833;AHC11834;AHC11835;AHC11837;AHC11838;AHC11839;AHC11841;AHC11843;AHC11844;AHC11845;AHC11849;AHC11850;AHC11851;AHC11852;AHC11853;AHC11855;AHC11856;AHC11857;AHC11859;AHC11860;AHC11861;AHC11862;AHC11863;AHC11864;AHC11865;AHC11866;AHC11867;AHC11868;AHC11869;AHC11870;AHC11871;AHC11872;AHC11873;AHC11874;AHC11875;AHC11876;AHC11877;AHC11878;AHC11880;AHC11882;AHC11883;AHC11884;AHC11885;AHC11886;AHC11887;AHC11890;AHC11892;AHC11894;AHC11896;AHC11898;AHC11900;AHC11902;AHC11903;AHC11904;AHC11908;AHC11909;AHC11910;AHC11912;AHC11913;AHC11914;AHC11915;AHC11916;AHC11917;AHC11920;AHC11921;AHC11922;AHC11923;AHC11926;AHC11927;AHC11932;AHC11933;AHC11934;AHC11936;AHC11938;AHC11940;AHC11942;AHC11943;AHC11944;AHC11946;AHC11948;AHC11949;AHC11950;AHC11951;BAE94306;BAE94307;BAE94308;BAE94309;BAE94310;BAE94311;BAE94312;BAE94313;BAE94314;BAE94315;BAE94316;BAE94317;BAG51277;BAG51408;BAK20450;BAK20452;CAA46588;CAA47865;EAW66676;NP_002377;Q01726 Hs.513829 1677114;1779186;1790381 M73K;RH92296;SHGC-61142 CMM5;MC1-R;MGC14337;MSH-R;SHEP2 OTTHUMP00000245286;melanocortin receptor 1;melanocyte-stimulating hormone receptor;melanotropin receptor APPROVED protein-coding ENSG00000258839 HGNC:6929 01118 155555;203200;266300;613098;613099 REVIEWED 1315985 MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 INVOLVED IN brain development (ortholog); neuron migration (ortholog); spinal cord association neuron differentiation (ortholog); FOUND IN anchored component of plasma membrane; extracellular space; INTERACTS WITH dasatinib (anhydrous); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 6 6 6 p21 39155326 39220811 - 37600284 37665766 - 37632508 37697990 - 1580863;6480464 12082541;14702039;15019943;15922729;16335952;18384059;20036297;20379614;21146959;22889411 266727 D6RFG6;D6RHU8;H0Y4Q2;H0YA23;Q8NFP4 ABBA01038287;ABBA01038288;AF478693;AK055376;AK090677;AK091149;AK091650;AK092308;AK126965;AL049553;AMYH02013572;BX647180;BX647253;CH471081;NM_153487;XM_006715056;XM_006715057 AAI52818;AAI56660;AAM77220;BAC03502;EAX03950;EAX03951;EAX03952;EAX03953;EAX03954;NP_705691;Q8NFP4;XP_006715119;XP_006715120 Hs.437993 1675919;1777802;2107339;2184430 MDGA1__7387;RH12822;RH98646;STS-H99490 DKFZp686K0262;DKFZp686L0262;FLJ45018;GPIM;MAMDC3 GPI and MAM protein;MAM domain-containing glycosylphosphatidylinositol anchor protein 1;MAM domain-containing protein 3;OTTHUMP00000016331;OTTHUMP00000016332;glycosyl-phosphatidyl-inositol-MAM;glycosylphosphatidylinositol-MAM protein-coding ENSG00000112139 HGNC:19267 14374 609626 VALIDATED 1349111 MCPH1 microcephalin 1 This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] 8 8 8 p23.1 6241660 6478643 + 6264113 6501140 + 6406592 6643619 + 6480464;7240710;8554872;8699517;9479074 23642229 11857108;12046007;12477932;12571366;12837246;14702039;15056608;15199523;15220350;15489334;16151009;16217032;16344560;16479174;16687438;16783362;16872911;17102619;17220170;17251122;17566767;17925396;18204051;18635967;18660752;18718915;19267414;19475667;19525936;19546241;19549900;19690177;19793310;19829069;19925808;20056645;20080800;20101680;20107607;20301772;20379614;20485444;20508983;20602615;20632086;20949544;21150325;21297427;21515671;21799462;21911480;21934293;21988832;21993531;22136275;22139841;22154951;22219182;22240313;22908299;22952573;23001041;23117476;23296058;23455924;23472065;23697381;23729656;23908141;24483146;9683597 79648 Q8NEM0 ABBA01007056;ABBA01007057;ABBA01007058;AC016065;AC018398;AF287957;AI379664;AI480294;AK022909;AK023946;AK057995;AK301702;AK308387;AMYH02017286;AMYH02017287;AMYH02017288;AMYH02017289;AMYH02017290;AX087870;AY307773;AY307774;AY307775;AY307776;AY307777;AY307778;AY307779;AY307780;AY307781;AY307782;AY307783;AY307784;AY307785;AY307786;AY307787;AY307788;AY307789;AY307790;AY307791;AY307792;AY307817;AY307818;AY307819;AY307820;AY307821;AY307822;AY307823;AY307824;AY307825;AY307826;AY307827;AY307828;AY307829;AY307830;AY307831;AY307832;AY307833;AY307834;AY307835;AY307836;AY505571;AY505572;AY505573;AY505574;AY505575;AY505576;AY505577;AY505578;AY505579;AY505580;AY505581;AY505582;AY505583;AY505584;AY505585;AY505586;AY505587;AY505588;AY505589;AY505590;AY505591;AY505592;AY505593;AY505594;AY505595;AY505596;AY505597;AY505598;AY505599;AY505600;AY505601;AY505602;AY505603;AY505604;AY505605;AY505606;AY505607;AY505608;AY505609;AY505610;AY505611;AY505637;AY505638;AY505639;AY505640;AY505641;AY505642;AY505643;AY505644;AY505645;AY505646;AY505647;AY505648;AY505649;AY505650;AY505651;AY505652;AY505653;AY505654;AY505655;AY505656;AY505657;AY505658;AY505659;AY505660;AY505661;AY505662;AY505663;AY505664;AY505665;AY505666;AY505667;AY505668;AY505669;AY505670;AY505671;AY505672;AY505673;AY505674;AY505675;AY505676;AY505677;AY505703;AY505704;AY505705;AY505706;AY505707;AY505708;AY505709;AY505710;AY505711;AY505712;AY505713;AY505714;AY505715;AY505716;AY505717;AY505718;AY505719;AY505720;AY505721;AY505722;AY505723;AY505724;AY505725;AY505726;AY505728;AY505729;AY505730;AY505731;AY505732;AY505733;AY505734;AY505735;AY505736;AY505737;AY505738;AY505739;AY505740;AY505741;AY505742;AY505743;AY505769;AY505770;AY505771;AY505772;AY505773;AY505774;AY505775;AY505776;AY505777;AY505778;AY505779;AY505780;AY505781;AY505782;AY505783;AY505784;AY505785;AY505786;AY505787;AY505788;AY505789;AY505790;AY505791;AY505792;AY505793;AY505794;AY505795;AY505796;AY505797;AY505798;AY505799;AY505800;AY505801;AY505802;AY505803;AY505804;AY505805;AY505806;AY505807;AY505808;AY505809;AY505835;AY505836;AY505837;AY505838;AY505839;AY505840;AY505841;AY505842;AY505843;AY505844;AY505845;AY505846;AY505847;AY505848;AY505849;AY505850;AY505851;AY505852;AY505853;AY505854;AY505855;AY505856;AY505857;AY505858;AY505859;AY505860;AY505861;AY505862;AY505863;AY505864;AY505865;AY505866;AY505867;AY505868;AY505869;AY505870;AY505871;AY505872;AY505873;AY505874;AY505875;AY505901;AY505902;AY505903;AY505904;AY505905;AY505906;AY505907;AY505909;AY505912;AY505913;AY505914;AY505915;AY505916;AY505917;AY505918;AY505919;AY505920;AY505921;AY505922;AY505923;AY505924;AY505925;AY505926;AY505927;AY505928;AY505929;AY505930;AY505931;AY505932;AY505933;AY505934;AY505935;AY505936;AY505937;AY505938;AY505939;AY505940;AY505941;AY505967;AY505968;AY505969;AY505970;AY505971;AY505972;AY505973;AY505974;AY505975;AY505976;AY505977;AY505978;AY505979;AY505980;AY505981;AY505982;AY505983;AY505984;AY505985;AY505986;AY505987;AY505988;AY505989;AY505990;AY505991;AY505992;AY505997;AY505998;AY505999;AY506000;AY506001;AY506002;AY506003;AY506004;AY506005;AY506006;AY506007;AY506008;AY506009;AY506010;AY506011;AY506012;AY506013;AY506014;AY506015;AY506016;AY506017;AY506018;AY506019;AY506020;AY506021;AY506022;AY506023;AY506024;AY506025;AY506026;AY506027;AY506028;AY506029;AY506030;AY506031;AY506032;AY506033;AY506034;AY506035;AY506036;AY506037;AY506063;AY506064;AY506065;AY506066;AY506067;AY506068;AY506069;AY506070;AY506071;AY506072;AY506073;AY506074;AY506075;AY506076;AY506077;AY506078;AY506079;AY506080;AY506081;AY506082;AY506083;AY506084;AY506085;AY506086;AY506087;AY506088;AY506089;AY506090;AY506091;AY506092;AY506093;AY506094;AY506095;AY506096;AY506097;AY506098;AY506099;AY506100;AY506101;AY506102;AY506103;AY506129;AY506130;AY506131;AY506132;AY506133;AY506134;AY506135;AY506136;AY506137;AY506138;AY506139;AY506140;AY506141;AY506142;AY506143;AY506144;AY506145;AY506146;AY506147;AY506148;AY506149;AY506150;AY506151;AY506152;AY506153;AY506154;AY506155;AY506156;AY506157;AY506158;AY506159;AY506160;AY506161;AY506162;AY506163;AY506164;AY506165;AY506166;AY506167;AY506168;AY506169;AY506195;AY506196;AY506197;AY506198;AY506199;AY506200;AY506201;AY506202;AY506203;AY506204;AY506205;AY506206;AY506207;AY506208;AY506209;AY506210;AY506211;AY506212;AY506213;AY506214;AY506215;AY506216;AY506217;AY506218;AY506219;AY506220;AY506221;AY506222;AY506223;AY506224;AY506225;AY506226;AY506227;AY506228;AY506229;AY506230;AY506231;AY506232;AY506233;AY506234;AY506235;AY506261;AY506262;AY506263;AY506264;AY506265;AY506266;AY506267;AY506268;AY506269;AY506270;AY506271;AY506272;AY506273;AY506274;AY506275;AY506276;AY506277;AY506278;AY506279;AY506280;AY506281;AY506282;AY506283;AY506284;AY506285;AY506286;AY506294;AY506298;AY506299;AY506300;AY506304;AY506307;AY506308;AY506309;AY506311;AY506312;AY506314;AY506315;AY506316;AY506317;AY506318;AY506320;AY506321;AY506327;AY506328;AY506330;BC030702;BC056195;BK004076;CH471153;DB051427;DC321458;KC877206;KC877207;NG_016619;NM_001172574;NM_001172575;NM_024596;XM_005266034;XM_005266035 AAH30702;AAQ92669;AAQ92670;AAQ92671;AAQ92672;AAQ92673;AAQ92674;AAQ92675;AAQ92676;AAQ92677;AAQ92678;AAQ92679;AAQ92680;AAQ92681;AAQ92682;AAQ92683;AAQ92684;AAQ92685;AAQ92686;AAQ92687;AAQ92688;AAQ92713;AAQ92714;AAQ92715;AAQ92716;AAQ92717;AAQ92718;AAQ92719;AAQ92720;AAQ92721;AAQ92722;AAQ92723;AAQ92724;AAQ92725;AAQ92726;AAQ92727;AAQ92728;AAQ92729;AAQ92730;AAQ92731;AAQ92732;AAS86449;AAS86450;AAS86451;AAS86452;AAS86453;AAS86454;AAS86455;AAS86456;AAS86457;AAS86458;AAS86459;AAS86460;AAS86461;AAS86462;AAS86463;AAS86464;AAS86465;AAS86466;AAS86467;AAS86468;AAS86469;AAS86470;AAS86471;AAS86472;AAS86473;AAS86474;AAS86475;AAS86476;AAS86477;AAS86478;AAS86479;AAS86480;AAS86481;AAS86482;AAS86483;AAS86484;AAS86485;AAS86486;AAS86487;AAS86488;AAS86489;AAS86515;AAS86516;AAS86517;AAS86518;AAS86519;AAS86520;AAS86521;AAS86522;AAS86523;AAS86524;AAS86525;AAS86526;AAS86527;AAS86528;AAS86529;AAS86530;AAS86531;AAS86532;AAS86533;AAS86534;AAS86535;AAS86536;AAS86537;AAS86538;AAS86539;AAS86540;AAS86541;AAS86542;AAS86543;AAS86544;AAS86545;AAS86546;AAS86547;AAS86548;AAS86549;AAS86550;AAS86551;AAS86552;AAS86553;AAS86554;AAS86555;AAS86581;AAS86582;AAS86583;AAS86584;AAS86585;AAS86586;AAS86587;AAS86588;AAS86589;AAS86590;AAS86591;AAS86592;AAS86593;AAS86594;AAS86595;AAS86596;AAS86597;AAS86598;AAS86599;AAS86600;AAS86601;AAS86602;AAS86603;AAS86604;AAS86606;AAS86607;AAS86608;AAS86609;AAS86610;AAS86611;AAS86612;AAS86613;AAS86614;AAS86615;AAS86616;AAS86617;AAS86618;AAS86619;AAS86620;AAS86621;AAS87606;AAS87607;AAS87608;AAS87609;AAS87610;AAS87611;AAS87612;AAS87613;AAS87614;AAS87615;AAS87616;AAS87617;AAS87618;AAS87619;AAS87620;AAS87621;AAS87622;AAS87623;AAS87624;AAS87625;AAS87626;AAS87627;AAS87628;AAS87629;AAS87630;AAS87631;AAS87632;AAS87633;AAS87634;AAS87635;AAS87636;AAS87637;AAS87638;AAS87639;AAS87640;AAS87641;AAS87642;AAS87643;AAS87644;AAS87645;AAS87646;AAS87672;AAS87673;AAS87674;AAS87675;AAS87676;AAS87677;AAS87678;AAS87679;AAS87680;AAS87681;AAS87682;AAS87683;AAS87684;AAS87685;AAS87686;AAS87687;AAS87688;AAS87689;AAS87690;AAS87691;AAS87692;AAS87693;AAS87694;AAS87695;AAS87696;AAS87697;AAS87698;AAS87699;AAS87700;AAS87701;AAS87702;AAS87703;AAS87704;AAS87705;AAS87706;AAS87707;AAS87708;AAS87709;AAS87710;AAS87711;AAS87712;AAS87738;AAS87739;AAS87740;AAS87741;AAS87742;AAS87743;AAS87744;AAS87746;AAS87749;AAS87750;AAS87751;AAS87752;AAS87753;AAS87754;AAS87755;AAS87756;AAS87757;AAS87758;AAS87759;AAS87760;AAS87761;AAS87762;AAS87763;AAS87764;AAS87765;AAS87766;AAS87767;AAS87768;AAS87769;AAS87770;AAS87771;AAS87772;AAS87773;AAS87774;AAS87775;AAS87776;AAS87777;AAS87778;AAS87804;AAS87805;AAS87806;AAS87807;AAS87808;AAS87809;AAS87810;AAS87811;AAS87812;AAS87813;AAS87814;AAS87815;AAS87816;AAS87817;AAS87818;AAS87819;AAS87820;AAS87821;AAS87822;AAS87823;AAS87824;AAS87825;AAS87826;AAS87827;AAS87828;AAS87829;AAS87834;AAS87835;AAS87836;AAS87837;AAS87838;AAS87839;AAS87840;AAS87841;AAS87842;AAS87843;AAS87844;AAS87845;AAS87846;AAS87847;AAS87848;AAS87849;AAS87850;AAS87851;AAS87852;AAS87853;AAS87854;AAS87855;AAS87856;AAS87857;AAS87858;AAS87859;AAS87860;AAS87861;AAS87862;AAS87863;AAS87864;AAS87865;AAS87866;AAS87867;AAS87868;AAS87869;AAS87870;AAS87871;AAS87872;AAS87873;AAS87874;AAS87900;AAS87901;AAS87902;AAS87903;AAS87904;AAS87905;AAS87906;AAS87907;AAS87908;AAS87909;AAS87910;AAS87911;AAS87912;AAS87913;AAS87914;AAS87915;AAS87916;AAS87917;AAS87918;AAS87919;AAS87920;AAS87921;AAS87922;AAS87923;AAS87924;AAS87925;AAS87926;AAS87927;AAS87928;AAS87929;AAS87930;AAS87931;AAS87932;AAS87933;AAS87934;AAS87935;AAS87936;AAS87937;AAS87938;AAS87939;AAS87940;AAS87966;AAS87967;AAS87968;AAS87969;AAS87970;AAS87971;AAS87972;AAS87973;AAS87974;AAS87975;AAS87976;AAS87977;AAS87978;AAS87979;AAS87980;AAS87981;AAS87982;AAS87983;AAS87984;AAS87985;AAS87986;AAS87987;AAS87988;AAS87989;AAS87990;AAS87991;AAS87992;AAS87993;AAS87994;AAS87995;AAS87996;AAS87997;AAS87998;AAS87999;AAS88000;AAS88001;AAS88002;AAS88003;AAS88004;AAS88005;AAS88006;AAS88032;AAS88033;AAS88034;AAS88035;AAS88036;AAS88037;AAS88038;AAS88039;AAS88040;AAS88041;AAS88042;AAS88043;AAS88044;AAS88045;AAS88046;AAS88047;AAS88048;AAS88049;AAS88050;AAS88051;AAS88052;AAS88053;AAS88054;AAS88055;AAS88056;AAS88057;AAS88058;AAS88059;AAS88060;AAS88061;AAS88062;AAS88063;AAS88064;AAS88065;AAS88066;AAS88067;AAS88068;AAS88069;AAS88070;AAS88071;AAS88072;AAS88624;AAS88625;AAS88626;AAS88627;AAS88628;AAS88629;AAS88630;AAS88631;AAS88632;AAS88633;AAS88634;AAS88635;AAS88636;AAS88637;AAS88638;AAS88639;AAS88640;AAS88641;AAS88642;AAS88643;AAS88644;AAS88645;AAS88646;AAS88647;AAS88648;AAS88649;AAS88657;AAS88661;AAS88662;AAS88663;AAS88667;AAS88670;AAS88671;AAS88672;AAS88674;AAS88675;AAS88677;AAS88678;AAS88679;AAS88680;AAS88681;AAS88683;AAS88684;AAS88690;AAS88691;AAS88693;BAB14304;BAG63174;CAC34661;DAA04567;EAW80468;EAW80469;EAW80470;NP_001166045;NP_001166046;NP_078872;Q8NEM0;XP_005266091;XP_005266092 Hs.656769;Hs.708770 1653114;1656759;1676612;1676736;1696300;1707412;1713147;1721979;1724167;1755763;1765359;2137994;2139384;2140366;2149054;2164586;2171456;2186109;2186904;2187306;5015861;5020645;5022651;7185938 A004X20;D10S16;D11S2921;D8S1413E;D8S1935;D8S2077;G19225;G59875;G66160;RH120360;RH121218;RH47768;RH48380;RH69270;RH75428;RH93262;SHGC-142612;SHGC-148851;SHGC-36472;SHGC-77726;SHGC-84494;STS-AA011655;WIAF-2168 BRIT1;FLJ12847;MCT BRCT-repeat inhibitor of TERT expression 1;OTTHUMP00000224448;OTTHUMP00000224501;OTTHUMP00000224562;microcephalin;microcephaly, primary autosomal recessive 1 APPROVED protein-coding ENSG00000147316 HGNC:6954 06174 251200;607117 REVIEWED 732327 MDH1 malate dehydrogenase 1, NAD (soluble) Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the cytoplasm and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Nov 2010] 2 2 2 p13.3 63661163 63679336 + 63815743 63834331 + 63588609 63607197 + 1300048;1580863;6480464;6907045 10075524;10190973;12477932;15489334;15565635;15815621;16027165;16169070;16196087;16263121;17500595;18029348;18781797;18996102;19056867;19110265;19229245;20011630;20029029;20602615;20877624;21044950;21139048;21565611;21890473;21906983;21963094;21988832;22360420;22693256;22939629;23000965;23503661;2449162;24654937;24816145;2775751;3052244;7151307;7698769;7895732;8786100;9799840 4190 B8ZZ51;B9A041;C9IZI0;C9JF79;C9JLV6;C9JRL4;F8WFC2;P40925;V9HWF2 ABBA01075404;AC016734;AK295931;AK300719;AK307273;AK312331;AMYH02003957;BC001484;BI667299;CB266998;CH471053;CR457405;D55654;EU794635;NM_001199111;NM_001199112;NM_005917;U20352;XM_005264320 AAC16436;AAH01484;AAY14893;ACJ13689;BAA09513;BAG35252;BAG62394;BAH12223;CAG33686;EAW99959;EAW99960;EAW99961;EAW99962;EAW99963;NP_001186040;NP_001186041;NP_005908;P40925;XP_005264377 Hs.526521 1721459;1734796;1775911;1797144;1858044;2149144 D2S1567E;G59582;MDH1;RH16368;SHGC-31543;WIAF-2167 HEL-S-32;MDH-s;MDHA;MGC:1375;MOR2 OTTHUMP00000159898;OTTHUMP00000202064;OTTHUMP00000202070;cytosolic malate dehydrogenase;diiodophenylpyruvate reductase;epididymis secretory protein Li 32;malate dehydrogenase, cytoplasmic;soluble malate dehydrogenase APPROVED protein-coding ENSG00000014641 HGNC:6970 01100 154200 VALIDATED 1343433 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 INVOLVED IN spinal cord motor neuron differentiation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH trichostatin A; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q21.3 27169381 28004719 - 47308826 48144157 - 46839623 47674954 - 1580863;6480464;8554872 12477932;12508121;12975309;14702039;15019943;16344560;17903294;18029348;18762592;19440164;19557195;19913121;19997561;20125193;20379614;20628086;21399569;21542908;21660437;22445761;22491018;23000965;23251661;23358245;23382691;24429156 161357 E9PMG9;G3V5U0;G3V5Z1;H0YJ52;Q7Z553 ABBA01018082;ABBA01018083;ABBA01018084;ABBA01018085;ABBA01018086;ABBA01018087;ABBA01018088;ABBA01018089;ABBA01018090;ABBA01018091;ABBA01018092;ABBA01018093;ABBA01018094;AK123307;AK309211;AL079306;AL157792;AL162551;AL358832;AL359951;AL591771;AMYH02029118;AMYH02029119;AMYH02029120;AMYH02029121;AMYH02029122;AMYH02029123;AMYH02029124;AMYH02029125;AMYH02029126;AMYH02029127;AMYH02029128;AY328482;AY358125;AY369208;BC028193;BC142947;BX538065;CH471078;DB041561;DB095976;KF455881;KF455882;NM_001113498;NM_182830;NR_103766;XM_006720068 AAI60160;AAP97010;AAQ73312;AAQ88492;BAG53887;EAW65772;EAW65773;EAW65774;NP_001106970;NP_878250;Q7Z553;XP_006720131 Hs.436380 1336154;1336900;1338901;1339297;1341271;1644930;1648542;1653041;1658492;1667097;1667099;1672012;1703762;1707532;1713959;1718015;1721321;1721635;1731589;1751425;1751733;1756955;1760755;1761235;1768428;1773475;1777773;1783146;2146355;2152324;2170928;2173513;2178335;2179856;2180299;7186774 D14S1009;D14S1239;D14S1277;D14S150;D14S541;D14S595;D14S613;D14S743;D14S748;D14S755;D14S869;D14S88E;D14S976;D22S273;G35646;G36066;G59660;G59828;RH119408;RH122624;RH44884;RH47671;SHGC-105251;SHGC-105707;SHGC-144123;SHGC-144273;SHGC-145243;SHGC-79318;SHGC-83187;SHGC-84575;STS-AA019736;STS-M78666;WI-10389;WI-21509;WIAF-2147 MAMDC1;c14_5286 MAM domain containing 1;MAM domain-containing glycosylphosphatidylinositol anchor protein 2;MAM domain-containing protein 1;OTTHUMP00000028200;OTTHUMP00000179128 protein-coding ENSG00000139915 HGNC:19835 14352 611128 VALIDATED 1317321 MDH1B malate dehydrogenase 1B, NAD (soluble) ENCODES a protein that exhibits malate dehydrogenase activity (inferred); oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (inferred); INVOLVED IN carbohydrate metabolic process (inferred); malate metabolic process (inferred); oxidation-reduction process (inferred); INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q33.3 201363918 201391481 - 207602487 207630268 - 206737763 206765549 - 6480464 12477932;20379614 130752 B4DY40;C9JER5;Q5I0G3 ABBA01062666;ABBA01062667;AC008269;AI076012;AK058070;AK292378;AK292386;AK302250;AK308257;AK309144;AMYH02005632;AMYH02005633;BC033509;BC088356;BF979825;BI464613;CH471063;DC397743;KF456757;NM_001039845;NM_001282940;NR_104261;XM_005246315;XM_005246316 AAH33509;AAH88356;AAX93274;BAF85067;BAF85075;BAG63602;EAW70392;EAW70393;NP_001034934;NP_001269869;Q5I0G3;XP_005246372;XP_005246373 Hs.147816 2115454 RH46229 FLJ25341;RP11-95H11 OTTHUMP00000163839;OTTHUMP00000206519;OTTHUMP00000206520;putative malate dehydrogenase 1B protein-coding ENSG00000138400 HGNC:17836 14375 VALIDATED 1352515 MDM1 Mdm1 nuclear protein homolog (mouse) This gene encodes a nuclear protein similar to the mouse double minute 1 protein. The mouse gene is located in double minute (DM) chromatin particles, is amplified in the mouse transformed 3T3 cell line, and the encoded protein is able to bind to p53. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 12 12 12 q15 68352374 68390189 - 68688346 68726161 - 68294566 68332381 - 6480464;8554872 12477932;16341674;16344560;18805803;22365631;23752268;3182840;8619474;9110174 56890 B2RB22;F5H529;F5H804;H0Y301;H0YGX6;Q8TC05 ABBA01026559;AC022511;AF007130;AF267851;AK026745;AK297311;AK314461;AMYH02026693;BC010622;BC022042;BC028355;BC034945;BM787113;CD704611;CH471054;DA958566;NM_001205028;NM_001205029;NM_017440;NM_020128;XM_005269026;XM_005269027 AAC19149;AAF78952;AAH22042;AAH28355;BAG37069;BAG59777;EAW97183;EAW97184;EAW97185;NP_001191957;NP_001191958;NP_059136;NP_064513;Q8TC05;XP_005269083;XP_005269084 Hs.655702 1690159;1701106;1797856;2184653 MDM1_1873;RH104181;RH92922;WI-17450 FLJ95264 Mdm4, transformed 3T3 cell double minute 1, p53 binding protein;OTTHUMP00000240160;OTTHUMP00000240161;OTTHUMP00000240163;OTTHUMP00000240165;OTTHUMP00000240166;nuclear protein MDM1;nuclear protein double minute 1 APPROVED protein-coding ENSG00000111554 HGNC:29917 14376 613813 REVIEWED 1353332 MDFI MyoD family inhibitor This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008] 6 6 6 p21 43159635 43175423 + 41606194 41621984 + 41638456 41654246 + 1580863;6480464 11238923;12107410;12477932;14530267;14574404;15207726;15489334;16189514;16713569;17289077;19060904;19447967;19850743;21664411;22632162;23088713;24722188;8797820;9250874;9799236 4188 B1AKB6;B1AKB7;B1AKB8;B1AKB9;B1AKC0;B1AKC1;Q99750 ABBA01050751;ABBA01050752;AK290735;AL035588;AMYH02013607;AMYH02013608;BC007836;BG818571;BI824391;BJ989485;BX397111;CA393148;CA487393;CH471081;HY007825;NM_001300804;NM_001300805;NM_001300806;NM_005586;U78313;XM_005249117;XM_005249118;XM_005249119;XM_005249120 AAB39748;AAH07836;ADZ15682;BAF83424;EAX04051;EAX04052;EAX04053;NP_001287733;NP_001287734;NP_001287735;NP_005577;Q99750;XP_005249174;XP_005249175;XP_005249176;XP_005249177 Hs.520119 1796316;1799844;1800898;1802830;1805644;1815214;1818414;1818470;1819964;1824936;1826646;1827454;1827856;1828210;1828424;1828586;1829360;1833110;1836040;1838614;1978838;1978840;1978842;1978844;1978846;1978848;1978850;1978852;1978854;1978856;1978858;1978860;1978862;1978864;1978866;1978868;1978870;1978872;1978874;1978876;1978878;1978880;1978882;1978884;1978886;1978888;1978890;1978892;1978894;1978896;1978898;1978900;1978902;1978904;1978906;1978908;1978910;1978912;1978914;1978916;1978918;1978920;1978922;1978924;1978926;1978928;1978930;1978932;1978934;1978936;1978938;1978940;1978942;1978944;1978946;1978948;1978950;1978952;1978954;1978956;1978958;1978960;1978962;1978964;1978966;1978968;1978970;1978972;1978974;1978976;1978978;1978980;1978982;1978984;1978986;1978988;1978990;1978992;1978994;2129145;2216068;2216070;2216072;2216074;2216076;2216078;2216080;2216082;2216084 ECD00776;ECD01314;ECD02303;ECD03772;ECD08642;ECD10265;ECD10296;ECD11053;ECD13567;ECD14437;ECD14843;ECD15051;ECD15230;ECD15338;ECD15420;ECD15811;ECD17697;ECD19181;ECD20481;MDFI_463;REN60309;REN60310;REN60311;REN60312;REN60313;REN60314;REN60315;REN60316;REN60317;REN60318;REN60319;REN60320;REN60321;REN60322;REN60323;REN60324;REN60325;REN60326;REN60327;REN60328;REN60329;REN60330;REN60331;REN60332;REN60333;REN60334;REN60335;REN60336;REN60337;REN60338;REN60339;REN60340;REN60341;REN60342;REN60343;REN60344;REN60345;REN60346;REN60347;REN60348;REN60349;REN60350;REN60351;REN60352;REN60353;REN60354;REN60355;REN60356;REN60357;REN60358;REN60359;REN60360;REN60361;REN60362;REN60363;REN60364;REN60365;REN60366;REN60367;REN60368;REN60369;REN60370;REN60371;REN60372;REN60373;REN60374;REN60375;REN60376;REN60377;REN60378;REN60379;REN60380;REN60381;REN60382;REN60383;REN60384;REN60385;REN60386;REN60387;WIAF-2075;stSG634898;stSG634899;stSG634900;stSG634901;stSG634902;stSG634905;stSG634907;stSG634908;stSG634909 I-MF;I-mfa OTTHUMP00000016375;OTTHUMP00000016376;OTTHUMP00000043543;OTTHUMP00000196103;OTTHUMP00000196104;OTTHUMP00000196105;OTTHUMP00000196414;OTTHUMP00000196415;inhibitor of MyoD family a;myogenic repressor I-mf APPROVED protein-coding ENSG00000112559 HGNC:6967 07280 604971 REVIEWED 733026 MDH2 malate dehydrogenase 2, NAD (mitochondrial) Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] 7 7 7 cen-q22 70545928 70564452 + 75677182 75696826 + 76048019 76067508 + 1582465;1582468;1582470;1300048;1580863;2306828;6480464;6907045;8554872 16786185;6282622;938457;9753871 10075524;11029287;12477932;12601813;12853948;14702039;1505215;15342556;15489334;15592455;15635413;1602151;16169070;16196087;16740313;16751257;17603759;18029348;19056867;19135240;19738201;20379614;20849852;20877624;21081666;21139048;21145461;21152271;21319273;21890473;21906983;21963094;22079093;22304920;22505724;22623428;22939629;22944692;23000965;23349634;23473034;23503661;23862649;23874603;24583282;24816145;2759092;2899080;3591372;606506;6439716;6576816;7285903;7698769;8349677;8401585;9792106;9792662 4191 B3KTM1;G3XAL0;P40926;U3KQ63 AA214555;ABBA01005903;AC005077;AC006330;AF047470;AI793009;AK095803;AK290779;AK293460;AK316587;AMYH02016077;BC001917;BM463639;BP382246;CH471220;CR536548;DC354622;DQ402957;NM_001282403;NM_001282404;NM_005918;NR_104165 AAC03787;AAH01917;AAS07425;AAS07534;ABD77290;ABM84006;ABM87340;BAF83468;BAG38175;BAG53133;BAG56955;CAG38785;EAW71796;EAW71797;EAW71798;NP_001269332;NP_001269333;NP_005909;P40926 Hs.520967 1667631;1670878;1709388;2117796;2126593;2127355;2128806;2128808;2150018;2152645 A001X26;A002I38;D7S2059E;D7S553E;G19751;GDB:4584955;RH12763;RH78279;SHGC-56100;SHGC-81711 M-MDH;MDH;MGC:3559;MOR1 OTTHUMP00000161017;OTTHUMP00000210118;OTTHUMP00000210119;malate dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000146701 HGNC:6971 01099 154100 REVIEWED 69142 MDK midkine (neurite growth-promoting factor 2) This gene encodes a member of a small family of secreted growth factors that binds heparin and responds to retinoic acid. The encoded protein promotes cell growth, migration, and angiogenesis, in particular during tumorigenesis. This gene has been targeted as a therapeutic for a variety of different disorders. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012] 11 11 11 p11.2 46550196 46552952 + 46402334 46405387 + 46380784 46383837 + 1581202;1581200;1582484;1582476;1299187;1582475;1582478;1582488;1580863;6480464;6484113;8554872 10683378;11340082;12127679;15146411;15450683;15734764;15780085;9568069 10212223;10772929;11048798;11925507;12077357;12122009;12147681;12175547;12477932;12579281;12841873;14517843;14970216;15050737;15138367;15146197;15197188;15201962;15340161;15355893;15489334;15781266;15897897;16169070;16341674;1639750;16713569;16895951;1701366;17066487;17171794;17267033;17368428;17379400;17451201;17493173;17607302;1768439;17845207;17931612;17971413;18176965;18195496;18329695;18422745;18469519;18476626;18657127;18682710;18698021;18712601;1883381;18851943;18956201;18985819;19016768;19060126;19112919;19250738;19409372;19538527;19698107;19728850;20030927;20030935;2025291;20308059;20350697;20431264;20442752;20447063;20511550;20525245;20544404;20589434;20694011;20811700;21094842;21208277;21212259;21233844;21787488;21826666;21900206;21917682;21989914;22051879;22099874;22249249;22415659;22417224;22562257;22669742;22672821;22707563;22871361;23129424;23212314;23224432;23243020;23391998;23553629;23602568;23719264;23815177;23899719;24164595;24500281;7835084;8241100;8406506;8471163;8621465;8694802;9089390;9384573;9452495 4192 C9JHA4;E9PLM6;E9PPJ5;P21741 ABBA01060748;AC116021;AI494596;AK130889;AK308210;AK309963;AMYH02024699;AMYH02024700;AMYH02024701;BC011704;BF684205;BI915189;BM016739;BM761575;BM887813;BX346163;CH471064;CN266354;CN266369;CN266376;D10604;DQ323888;DQ323889;DQ323890;JA464939;M69148;M94250;NM_001012333;NM_001012334;NM_001270550;NM_001270551;NM_001270552;NM_002391;NR_073039;X55110 AAA58478;AAA59850;AAH11704;ABC55425;ABC55426;ABC55427;ABM84146;ABM87548;BAA01457;CAA38908;CCD35255;EAW68005;NP_001012333;NP_001012334;NP_001257479;NP_001257480;NP_001257481;NP_002382;P21741 Hs.82045 1648159;1795688;2132304;2153584;2180096 D11S4595;DGKZ_1591;MDK;RH12588;SGC33101 ARAP;FLJ27379;MK;NEGF2 OTTHUMP00000197041;OTTHUMP00000197042;OTTHUMP00000197043;OTTHUMP00000197044;OTTHUMP00000197045;OTTHUMP00000233051;OTTHUMP00000233088;amphiregulin-associated protein;midgestation and kidney protein;midkine;neurite outgrowth-promoting factor 2;neurite outgrowth-promoting protein;retinoic acid inducible factor APPROVED protein-coding ENSG00000110492 HGNC:6972 01200 162096 REVIEWED 1601722 MDP1 magnesium-dependent phosphatase 1 ENCODES a protein that exhibits metal ion binding (inferred); protein tyrosine phosphatase activity (inferred); INVOLVED IN peptidyl-tyrosine dephosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; copper(2+) sulfate; valproic acid 14 14 14 q12 4547795 4549879 - 24683143 24685276 - 24213937 24216070 - 6480464;8554872 10889041;12477932;14702039;15489334;16344560;16670083;17207965;22939629;23824909 145553 Q86V88 AA918790;ABBA01061337;AK092821;AK312038;AL096870;AMYH02028880;BC009495;BC046912;BC051382;CB046258;CH471078;DA287183;NM_001199821;NM_001199822;NM_138476 AAH46912;AAH51382;ADQ32179;BAC03984;BAG34975;EAW66060;EAW66061;EAW66062;EAW66063;EAW66064;NP_001186750;NP_001186751;NP_612485;Q86V88 Hs.220963 1646846;1721141;1771358;2107431 D14S853;G59405;NEDD8_7836;WI-15002 FN6Pase;MDP-1;MGC5987 OTTHUMP00000164705;OTTHUMP00000234835;fructosamine-6-phosphatase protein-coding ENSG00000213920 HGNC:28781 14695 VALIDATED 1349726 MDRV muscular dystrophy, with rimmed vacuoles ASSOCIATED WITH Vacuolar Neuromyopathy (inferred) 7240710 4195 1339612 D19S894 HGNC:6978 601846 1319408 MDS1 myelodysplasia syndrome 1 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred) q26 1580863 11552981;12477932;12927815;15489334;16582916;8171026;8643684 4197 AC007849;AC024099;AC069220;AC074033;AC078985;BC069498;CH471052;CR541866;CR541886;DC347146;NM_004991;U43292;U43293 AAB05839;AAB05840;AAH69498;CAG46664;CAG46684;EAW78549;EAW78550;NP_004982;Q13465;Q6FH90 Hs.659873 MDS1-EVI1;PRDM3 protein-coding HGNC:6979 11418 8548693 ME2P1 malic enzyme 2, NAD(+)-dependent, mitochondrial pseudogene 1 9 9 9 p21.1 29752254 29755261 - 29823709 29826716 - 29823711 29826718 - 286239 ABBA01065109;AL513132;AMYH02019381;NG_016134 pseudo HGNC:49809 INFERRED 2304163 MDS2 myelodysplastic syndrome 2 translocation associated FOUND IN extracellular space; INTERACTS WITH hydralazine; valproic acid 1 1 1 p36 22283531 22296763 + 23953824 23967056 + 23627334 23640566 + 6480464 12203785;12477932;16710414;20700443 259283 Q8NDY4 ABBA01059879;ABBA01059880;AJ310434;AL451000;AMYH02000500;AMYH02000501;BC041472;BC069164;NR_027042 CAD27416 Hs.523369 5016851 RH80031 RP11-223J15.1 ncrna ENSG00000197880 HGNC:29633 607305 PREDICTED 1321157 ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009] 18 18 18 q21 45262199 45332954 + 48405432 48476165 + 50879062 50949795 + 1580863;6480464;6907045;7240710 10467136;10477256;10700286;10913357;11358520;11401430;12121650;12477932;12665801;12962632;14760703;15532013;16171388;16190936;16344560;17418816;17638511;18029348;19066393;19691144;1993674;20186120;20824065;20877624;21116278;22586326;23334421;23756480;24816145;3689803;511162;680703;7496989;7757881 4200 P23368 AB045122;ABBA01018678;ABBA01018679;ABBA01018680;ABBA01018681;AC015864;AC087687;AJ294818;AK313391;AMYH02034706;AMYH02034707;AMYH02034708;AU119085;BC000147;BI465083;BI559761;CD370709;CH471096;DA644731;M55905;NG_016198;NM_001168335;NM_002396 AAA36197;AAH00147;BAB40980;BAG36189;CAC14574;EAW62980;EAW62981;EAW62982;NP_001161807;NP_002387;P23368 Hs.233119 1673193;1701122;1729924;1849914;1850140;2168735;2185959;5015867;5016478;5019653;5022578;5037552 A006G43;D18S1338;D18S46;D18S961;D1S1423;D8S2279;G32352;GDB:312714;GDB:434012;RH104189;RH71383;SHGC-36368 NAD-ME;ODS1 NAD-dependent malic enzyme, mitochondrial;OTTHUMP00000163546;malate dehydrogenase;pyruvic-malic carboxylase APPROVED protein-coding HGNC:6984 01103 154270;600669;610064 REVIEWED 1607030 MDFIC MyoD family inhibitor domain containing This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 7 7 7 q31.1-q31.2 109368760 109466574 + 114562169 114659971 + 114922154 115019916 + 6480464 10671520;11139147;12192039;12370022;12477932;12944466;16260749;17064770;17289077;18029348;19041912;19428567;19582149;20379614;20417616;21401918;21988832;22939629;23818313 29969 C9J104;C9J784;H7BZY3;H7C4B9;J3KN13;Q9P1T7 AA406528;ABBA01057825;AC017003;AF054589;AI668639;AMYH02016611;AMYH02016612;AY196485;BC040713;CB048531;CH236947;CH471070;KF510968;NG_029463;NM_001166345;NM_001166346;NM_199072 AAF36998;AAF36999;AAI56447;AAP33842;EAW83487;NP_001159817;NP_001159818;NP_951038;Q9P1T7 Hs.741413 1335772;1645984;1675846;1689574;1798798;1798936;1799452;1799540;1799590;1799624;1799716;1799928;1800320;1800802;1801140;1801588;1801720;1801722;1802146;1802616;1802802;1805482;1805728;1806140;1806632;1806958;1807232;1807288;1807622;1807624;1808112;1809090;1809850;1810258;1810850;1811800;1811880;1812302;1812458;1812460;1812808;1813246;1815424;1816048;1816298;1816376;1816558;1816634;1816840;1817164;1817866;1818584;1818814;1819586;1821656;1821862;1821946;1822466;1822728;1822806;1823134;1823336;1824026;1824490;1824570;1825524;1826172;1826898;1827324;1828252;1828790;1829230;1829894;1829948;1830710;1830992;1831046;1831174;1831470;1831568;1831570;1831686;1831874;1832028;1833068;1834170;1834738;1834828;1835206;1835650;1836238;1836976;1837038;1838160;1839738;1840072;1840458;1840540;1840724;1841626;1842126;1842338;1842912;1843152;1844390;1844460;1844806;1844960;1845102;1845104;1845308;1845498;1845786;1846388;1846418;2066520;2066522;2066524;2066526;2066528;2066530;2066532;2066534;2066536;2066538;2066540;2066542;2066544;2066546;2066548;2066550;2066552;2066554;2066556;2066558;2066560;2066562;2066564;2066566;2066568;2066570;2066572;2066574;2066576;2066578;2066580;2066582;2066584;2066586;2066588;2066590;2066592;2066594;2066596;2066598;2066600;2066602;2066604;2066606;2066608;2066610;2066612;2066614;2066616;2066618;2066620;2066622;2066624;2066626;2066628;2066630;2066632;2066634;2066636;2066638;2066640;2066642;2066644;2066646;2066648;2066650;2066652;2066654;2066656;2066658;2066660;2066662;2066664;2066666;2066668;2066670;2066672;2066674;2066676;2066678;2066680;2066682;2066684;2066686;2066688;2066690;2066692;2066694;2066696;2066698;2066700;2066702;2066704;2066706;2066708;2066710;2066712;2066714;2066716;2066718;2066720;2066722;2066724;2066726;2066728;2066730;2066732;2066734;2066736;2066738;2066740;2066742;2066744;2066746;2066748;2066750;2066752;2066754;2066756;2066758;2066760;2066762;2066764;2066766;2066768;2066770;2066772;2066774;2066776;2066778;2066780;2066782;2066784;2066786;2066788;2066790;2066792;2066794;2066796;2066798;2066800;2066802;2066804;2066806;2066808;2066810;2066812;2066814;2066816;2066818;2066820;2066822;2066824;2066826;2066828;2066830;2066832;2066834;2066836;2066838;2066840;2066842;2066844;2066846;2066848;2066850;2066852;2066854;2066856;2066858;2066860;2066862;2066864;2066866;2066868;2066870;2066872;2066874;2066876;2066878;2066880;2066882;2066884;2066886;2066888;2066890;2066892;2066894;2066896;2066898;2066900;2066902;2066904;2066906;2066908;2066910;2066912;2066914;2066916;2066918;2066920;2066922;2066924;2066926;2066928;2066930;2066932;2066934;2066936;2066938;2066940;2066942;2066944;2066946;2066948;2066950;2066952;2066954;2066956;2066958;2066960;2066962;2066964;2066966;2066968;2066970;2066972;2066974;2066976;2066978;2066980;2066982;2066984;2066986;2066988;2066990;2066992;2066994;2066996;2066998;2067000;2067002;2067004;2067006;2067008;2067010;2067012;2067014;2067016;2067018;2067020;2067022;2067024;2067026;2067028;2067030;2067032;2067034;2067036;2067038;2067040;2067042;2067044;2067046;2067048;2067050;2067052;2067054;2067056;2067058;2067060;2067062;2067064;2067066;2067068;2067070;2067072;2067074;2067076;2067078;2067080;2067082;2067084;2067086;2067088;2067090;2067092;2067094;2067096;2067098;2067100;2067102;2067104;2067106;2067108;2067110;2067112;2067114;2067116;2067118;2067120;2067122;2067124;2067126;2067128;2067130;2067132;2067134;2067136;2067138;2067140;2067142;2067144;2067146;2067148;2067150;2067152;2067154;2067156;2067158;2067160;2067162;2067164;2067166;2067168;2067170;2067172;2067174;2067176;2067178;2067180;2067182;2067184;2067186;2067188;2067190;2067192;2067194;2067196;2067198;2067200;2067202;2067204;2067206;2067208;2067210;2067212;2067214;2067216;2067218;2067220;2067222;2067224;2067226;2067228;2067230;2067232;2067234;2067236;2067238;2067240;2067242;2067244;2067246;2067248;2067250;2067252;2067254;2067256;2067258;2067260;2067262;2067264;2067266;2067268;2067270;2067272;2067274;2067276;2067278;2067280;2067282;2067284;2067286;2067288;2067290;2067292;2067294;2067296;2067298;2067300;2067302;2067304;2067306;2067308;2067310;2067312;2067314;2067316;2067318;2067320;2067322;2067324;2067326;2067328;2067330;2067332;2067334;2067336;2067338;2067340;2067342;2067344;2067346;2067348;2067350;2067352;2067354;2067356;2067358;2067360;2067362;2067364;2067366;2067368;2067370;2067372;2181403;2193442;2193444;2193446;2193448;2193450;2193452;2193454;2193456;2193458;2193460;2193462;2193464;2193466;2193468;2193470;2193472;2193474;2193476;2193478;2193480;2193482;2193484;2193486;2193488;2193490;2193492;2193494;2193496;2193498;2193500;2193502;2193504;2193506;2193508;2193510;2193512;2193514;2193516;2193518;2193520;2193522;2193524;2193526;2193528;2193530;2193532;2193534;2193536;2193538;2193540;2193542;2193544;2193546;2193548;2193550;2193552;2193554;2193556;2193558;2193560;2193562;2193564;2193566;2193568;2193570;2193572;2193574;2193576;2193578;2193580;2193582;2193584;2193586;2193588;2219136;5015861;5022651;5024761;5037552;7185334;7185938 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104843;REN104844;REN104845;REN104846;REN104847;REN104848;REN104849;REN104850;REN104851;REN104852;REN104853;REN104854;REN104855;REN104856;REN104857;REN104858;REN104859;REN104860;REN104861;REN104862;REN104863;REN104864;REN104865;REN104866;REN104867;REN104868;REN104869;REN104870;REN104871;REN104872;REN104873;REN104874;RH36905;RH91352;RH92125;WI-17702;stSG611689;stSG611691;stSG611692;stSG611693;stSG611694;stSG611695;stSG611696;stSG611697;stSG611698;stSG611699;stSG611700;stSG611701;stSG611702;stSG611703;stSG611704;stSG611705;stSG611706;stSG611707;stSG611708;stSG611709;stSG611710;stSG611711;stSG611712;stSG611713;stSG611714;stSG611715;stSG611716;stSG611717;stSG611718;stSG611719;stSG611720;stSG611721;stSG611722;stSG611723;stSG611724;stSG611725;stSG611726;stSG611727;stSG611728;stSG611729;stSG611730;stSG611731;stSG611732;stSG611733;stSG611734;stSG611735;stSG611736;stSG611737;stSG611738;stSG611739;stSG611740;stSG611741;stSG611742;stSG611743;stSG611744;stSG611745;stSG611746;stSG611747;stSG611748;stSG611749;stSG611750;stSG611751;stSG611752;stSG611753;stSG611754;stSG611755;stSG611756;stSG611757;stSG611758;stSG611759;stSG611760;stSG611761;stSG611762;stSG611764 HIC I-mfa domain-containing protein;OTTHUMP00000025265;OTTHUMP00000206391;OTTHUMP00000220850;myoD family inhibitor domain-containing protein APPROVED protein-coding ENSG00000135272 HGNC:28870 17103 614511 REVIEWED 6481322 MEAF6P1 MYST/Esa1-associated factor 6 pseudogene 1 2 2 210046558 210046794 + 209181834 209182070 + 100874045 ABBA01062720;AC013409;AMYH02005670;NG_032529 pseudo HGNC:42660 INFERRED 1346327 MEA1 male-enhanced antigen 1 INVOLVED IN cell differentiation (inferred); male gonad development (inferred); spermatogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; coumestrol 6 6 6 p21.3-p21.1 44532206 44533859 - 42948082 42981947 - 42980344 43014209 - 1580863;6480464;8554872 12444059;12477932;14574404;15489334;16189514;19380743;21890473;22863883;22939629;24250222;2813404 4201 Q16626 AA448322;ABBA01050698;AK309759;AL136304;AL158815;AMYH02013638;BC001754;BQ232807;BT009831;CH471081;L10400;M27937;NM_014623;XM_005249121;XM_005249122;XM_005249123 AAA36208;AAA36209;AAH01754;AAP88833;EAX04135;NP_055438;Q16626;XP_005249178;XP_005249179;XP_005249180 Hs.278362 1655124;1729049;1797146;2130517;5123583 D6S1897;MEA;RH46598;UniSTS:143850;WI-18871 HYS;MEA;MEA-1 Male-enhanced antigen (H-Y structural gene);OTTHUMP00000016417;male-enhanced antigen protein-coding HGNC:6986 00885 143170 VALIDATED 736133 ME1 malic enzyme 1, NADP(+)-dependent, cytosolic This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008] 6 6 6 q12 84353414 84574177 - 83920108 84140938 - 83210389 83431219 - 1580863;1300048;6480464;6907045;8554872 1088824;11085912;11352855;11358520;12121650;12477932;14574404;15489334;16344560;16757477;18029348;18660489;19293334;19416979;19464998;2015102;20877624;21139048;21555518;21890473;21906983;21963094;22456781;22863883;23114090;23284632;23334421;24816145;3169368;4689040;7496989;7622060;7757881;8125298;8187880;8804575;9174159 4199 B4DZ70;P48163 A38056;ABBA01040450;ABBA01040451;ABBA01040452;ABBA01040453;ABBA01040454;AJ420574;AK223417;AK289783;AK301875;AK302777;AL049699;AL136970;AL391416;AMYH02014012;AMYH02014013;AMYH02014014;AMYH02014015;AMYH02014016;BC017403;BC025246;BX376125;CH471051;DA520723;KF458214;L34035;L34809;NM_002395;U43944;X77244 AAB01380;AAC50613;AAD15054;AAH17403;AAH25246;ABM83081;ABW03488;BAD97137;BAF82472;BAG63311;BAG63982;CAA02318;CAA54460;EAW48664;NP_002386;P48163 Hs.21160 1338241;1341531;1674252;1690840;1773966;2130152;2130706;2133410 D6S1020;D6S1235E;D6S2105;D6S391;GDB:313147;RH74979;WI-11126;WI-7362 MES HUMNDME;Malic enzyme, cytoplasmic;NADP-ME;NADP-dependent malic enzyme;OTTHUMP00000016792;malate dehydrogenase;malic enzyme 1;malic enzyme 1, soluble;pyruvic-malic carboxylase APPROVED protein-coding ENSG00000065833 HGNC:6983 01102 154250 REVIEWED 1343918 MEAX myopathy with excessive autophagy 4202 HGNC:6987 1343734 MEB muscle-eye-brain disease ASSOCIATED WITH MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (inferred); MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (inferred); Walker-Warburg Syndrome (inferred) 7240710 9915951 4203 HGNC:6988 253280;613151;613157 1604318 MEAF6 MYST/Esa1-associated factor 6 This gene encodes a nuclear protein involved in transcriptional activation. The encoded protein may form a component of several different histone acetyltransferase complexes. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 1 1 1 p35.3-p33 36236125 36258295 - 37955561 37980420 - 37489960 37514819 - 6480464;9495926 21502417 12477932;12601173;12963728;14702039;14966270;15489334;15647280;16189514;16230350;16341674;16387653;16710414;17207965;17903294;18029348;18684714;18794358;19060904;19187766;19322201;19454010;19471022;22144582;22467210;22505724;24250222;24530230;24816145;8125298;8619474;9110174 64769 B1AK63;Q9HAF1 ABBA01023276;ABBA01023277;AK021792;AK225434;AK225598;AK308118;AK309663;AL034379;AMYH02000797;AY007166;AY211926;BC016328;BC043239;BC056406;BM840891;BX386498;BX538212;BX640719;CH471059;DQ099384;NM_001270875;NM_001270876;NM_022756;NR_073090;NR_073091;NR_073092;XM_006710821 AAH16328;AAH56406;AAO65179;AAZ13760;ACE86515;ACE87002;ACE87691;ADQ33137;BAB13898;CAD98071;CAE45838;EAX07339;EAX07340;EAX07341;EAX07342;EAX07343;EAX07344;NP_001257804;NP_001257805;NP_073593;Q9HAF1;XP_006710884 Hs.17118 1656011;1688326;1688416;1778209;1856269;2126271;2184260;5014003;5015869;5016596;5021872;5024035 D13S116;D17S1136;GDB:313261;GDB:631802;RH69809;RH70456;RH79090;SHGC-32897;SHGC-64322;SHGC-74622;STS-AA001404;sY3084 C1orf149;CDABP0189;CENP-28;Eaf6;FLJ11730;NY-SAR-91;RP3-423B22.2;hEAF6 Esa1p-associated factor 6 homolog;OTTHUMP00000004401;OTTHUMP00000004402;OTTHUMP00000004403;centromere protein 28;chromatin modification-related protein MEAF6;esa1-associated factor 6 homolog;protein EAF6 homolog;sarcoma antigen NY-SAR-91 APPROVED protein-coding HGNC:25674 13347 611001 REVIEWED 1319584 MDM4 MDM4, p53 regulator This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011] 1 1 1 q32 177620715 177662398 + 204485507 204596131 + 204516379 204627003 + 1580863;2316155;2316156;6480464;6484113;6907045;8663434 16601750;19450511;23262034 10075736;10218570;10469568;10608892;10827196;11223036;11297540;11528400;11840332;11840567;11953423;12101245;12107410;12162806;12370303;12393902;12477932;12483531;12532331;12640683;12860999;12874296;12963717;14660608;14702039;14739777;15199139;15342556;15489334;15604276;15735705;15782125;15788536;15876864;15906355;15907800;15916963;15944197;16024788;16027727;16055726;16082221;16163388;16227609;16266988;16510145;16511560;16511572;16616333;16710414;16943424;17018606;17080083;17110929;17159902;17301054;17616658;17651783;17875722;18086887;18172009;18219319;18279506;18335186;18356162;18451213;18485870;18644346;18677113;18785023;18826207;19075013;19084022;19153082;19255450;19273224;19305137;19432880;19470478;19497887;19507240;19521340;19580521;19619542;19683495;19721810;19734545;19762336;19838211;19913121;19946469;20062013;20172729;20174603;20190571;20333547;20372076;20379614;20417304;20472715;20473904;20484049;20520810;20628086;20657550;20677014;20680659;20705607;20713061;20724842;20819778;20855462;20863813;21075307;21081495;21084273;21088494;21148311;21503588;21540763;21541195;21572037;21750655;21784052;21823114;21832049;21910853;21925390;21965653;21988832;22040960;22120712;22180099;22266850;22290440;22333590;22374672;22410433;22490292;22493164;22556425;22586610;22807444;22820643;22825724;22845047;22870278;22916154;22937789;22939624;23028042;23277204;23324352;23535732;23535733;23544013;23671280;23722424;23724042;23793604;23874713;23934659;23946421;23994448;24018792;24027430;24127580;24190973;24285179;24325915;24445145;24667108;24755078;8125298;8895579;9226370 4194 B4E122;O15151;Q59FS6;Q5T0Y2;Q5T0Y3;Q5T0Y4;Q68DC0 AB209383;ABBA01027439;ABBA01027440;ABBA01027441;ABBA01027442;AF007111;AK097188;AK223228;AK303626;AK304698;AK310607;AK310903;AL512306;AMYH02002537;AY207458;AY923176;AY949028;BC025993;BC067299;BC105106;BC143431;BC143432;BM475824;BP247507;BP334671;BX108199;BX640923;CA395099;CH471067;CR749470;KC479043;KF435149;KF435150;NG_029367;NM_001204171;NM_001204172;NM_001278516;NM_001278517;NM_001278518;NM_001278519;NM_002393;XM_006711328;XM_006711329;XR_241079;XR_426774;XR_426775 AAB62928;AAH67299;AAI05107;AAO13494;AAX51227;AAY22054;AGJ70143;AGZ93683;AGZ93684;BAD92620;BAD96948;BAG64634;BAG65468;CAE45961;CAH18300;EAW91515;EAW91516;NP_001191100;NP_001191101;NP_001265445;NP_001265446;NP_001265447;NP_001265448;NP_002384;O15151;XP_006711391;XP_006711392 Hs.497492 1648858;1660810;1685395;1775382;2144757;5015961;5016700;5016781;5020274;5022322;5022578;5024035;5037552;5109281 D11S2560;D13S116;D15S1477;D1S1423;D1S1425;D1S2250;D1S3601;D8S2279;L18441;RH79802;RH80388;SHGC-67307;SHGC-76181;SHGC-76197 DKFZp781B1423;HDMX;MDMX;MGC132766;MRP1 MDM4 protein variant G;MDM4 protein variant Y;MDM4-related protein 1;Mdm4 p53 binding protein homolog;Mdm4, transformed 3T3 cell double minute 4, p53 binding protein;OTTHUMP00000034072;double minute 4 homolog;double minute 4 protein;double minute 4, human homolog of;mdm2-like p53-binding protein;p53-binding protein Mdm4 APPROVED protein-coding ENSG00000198625 HGNC:6974 04082 602704 REVIEWED 1314985 MDN1 MDN1, midasin homolog (yeast) ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; intermediate filament cytoskeleton; membrane; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; all-trans-retinoic acid 6 6 6 q15 90772202 90948387 - 90352494 90529442 - 89642775 89819764 - 1580863;6480464;6907045;8554872 12102729;12477932;14574404;15302935;15635413;17081983;17400507;18187620;19394292;19596686;19738201;19762545;19850743;19946888;21139048;21549307;21890473;21906983;21963094;22586326;22939629;23022380;23314748;23383273;23667531;23752268;24515614;24816145;9205841 23195 M0QXR3;Q5T795;Q9NU22 AB002299;ABBA01040533;ABBA01040534;ABBA01040535;ABBA01040536;ABBA01040537;ABBA01040538;ABBA01040539;AF503925;AK027048;AK098453;AK124025;AK125181;AL096678;AL158813;AL353692;AMYH02014086;AMYH02014087;AMYH02014088;AMYH02014089;AMYH02014090;BC014882;BC020432;BC036888;BC040330;BP360573;CH471051;CR627399;NG_034012;NM_014611;XM_005248699;XM_005248700;XM_006715404;XM_006715405;XR_427966 AAH14882;AAM77722;BAA20761;BAC85754;CAH10492;EAW48545;EAW48546;NP_055426;Q9NU22;XP_005248756;XP_005248757;XP_006715467;XP_006715468 Hs.529948 1647567;1656587;1666945;1681608;1787842;1791400;1849949;2107341;2111164;5017298 A006O38;D6S482;MDN1__7388;PMC109273P2;RH35920;RH46864;RH66597;RH99130;SHGC-132631;SHGC-36736 DKFZp686H16106;FLJ23395;FLJ25587;FLJ42031;FLJ43191;KIAA0301 MIDAS-containing protein;OTTHUMP00000016865;midasin protein-coding ENSG00000112159 HGNC:18302 10069 VALIDATED 733084 MECR mitochondrial trans-2-enoyl-CoA reductase ENCODES a protein that exhibits trans-2-enoyl-CoA reductase (NADPH) activity; INVOLVED IN fatty acid metabolic process; FOUND IN mitochondrion; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; copper(2+) sulfate 1 1 1 p35.3 27915536 27953607 - 29519385 29557460 - 29192657 29230958 - 6480464 10810093;12477932;12654921;14702039;15489334;16710414;18029348;18479707;20877624;24161390;24250222;24816145;8125298;9795230 51102 H3BM30;Q5SYU3;Q9BV79 ABBA01035080;ABBA01035081;ABBA01035082;AF151821;AK025830;AK095099;AK225687;AK226084;AK300889;AK315274;AL590729;AL711403;AMYH02000645;BC001419;CH471059;CR456703;H17678;HY116509;NM_001024732;NM_016011;XM_005245885;XM_005245886;XM_005245887;XM_005245888;XM_005245889;XM_006710674 AAD34058;AAH01419;ADZ15732;BAG52984;BAG62530;CAG32984;EAX07653;EAX07654;EAX07655;EAX07656;NP_001019903;NP_057095;Q9BV79;XP_005245942;XP_005245943;XP_005245944;XP_005245945;XP_005245946;XP_006710737 Hs.183646 1701196;1854154;2155326 RH104226;SHGC-74499;STS-W47099 CGI-63;FASN2B;NRBF-1;NRBF1;hsNrbf-1 OTTHUMP00000065098;OTTHUMP00000065099;OTTHUMP00000065100;homolog of yeast 2-enoyl thioester reductase;mitochondrial 2-enoyl thioester reductase;nuclear receptor binding factor 1;nuclear receptor-binding factor 1;trans-2-enoyl-CoA reductase, mitochondrial protein-coding ENSG00000116353 HGNC:19691 12192 608205 VALIDATED 1322216 MECOM MDS1 and EVI1 complex locus The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 3 3 3 q26.2 167199811 167780346 - 168801287 169381563 - 169083499 169663775 - 1580863;6480464;6907045;8554872 10856240;11050005;11181995;11313276;11328817;11552981;11568182;11922610;12393383;12461752;12477932;14555651;14603251;15489334;15849193;15897867;15914564;16014322;16342172;16582916;17014970;17243162;17507183;17635584;17693189;17693194;17894555;18181178;18262061;18272813;18452556;18500823;18619962;18655152;18752846;18815193;18976975;19010836;19208846;19241117;19322201;19352083;19385966;19430479;19430483;19605700;19767769;19776757;20084277;20098431;20308656;20357826;20363750;20379614;20512145;20532840;20634891;20700443;20842122;20855866;2115646;21176350;21190993;21289308;21362509;21555002;21636719;21750091;21782286;21872826;21909110;21909115;21946350;22033412;22161860;22295105;22308434;22488406;22553314;22555662;22610502;22634393;22797727;22887804;22894935;22939622;23008312;23155256;23212151;23284291;23349225;23455924;23457546;23502783;23509296;23517670;23665236;23667531;23752186;23770046;23776681;23858473;24021671;24055488;24568904;24703711;24703906;24856998;8171026;8313895;8557637;8643684;8700545;9665135;9724649 2122 C7FEN9;C9JU02;E7EPY2;E7EQ57;E7ERX0;E7EU48;E7EUL6;E9PGE9;F6VZI5;H9KVD4;Q03112;Q13465;Q8IU84 AA043944;ABBA01058708;ABBA01058709;ABBA01058710;ABBA01058711;ABBA01058712;ABBA01058713;AC007849;AC024099;AC069220;AC074033;AC078985;AF164154;AF164155;AF164156;AF164157;AF487422;AF487423;AF487424;AK025934;AK292865;AK304098;AK308404;AK310509;AL700380;AMYH02008096;AMYH02008097;AMYH02008098;BC012450;BC031019;BC069498;BC130520;BC143951;BC143952;BX484790;BX640908;BX647613;CH471052;CR541866;CR541886;DC347146;DC348381;GQ352634;KF457717;NG_028279;NM_001105077;NM_001105078;NM_001163999;NM_001164000;NM_001205194;NM_004991;NM_005241;S82592;U43292;U43293;X54989;XM_005247213;XM_005247214;XM_005247215;XM_005247216;XM_005247219;XM_005247220;XM_005247221;XM_005247223;XM_005247224;XM_005247225;XM_005247226;XM_006713536;XM_006713537 AAB05839;AAB05840;AAB37456;AAF04008;AAF04009;AAF04010;AAF04011;AAH31019;AAH69498;AAI30521;AAI43952;AAI43953;AAN39687;AAN39688;AAN39689;ACE86801;ACE87488;ACU31119;BAF85554;BAH14103;CAA38735;CAE45952;CAG46664;CAG46684;CAI46086;EAW78549;EAW78550;EAW78552;EAW78553;EAW78554;EAW78555;EAW78556;EAW78557;EAW78558;EAW78559;NP_001098547;NP_001098548;NP_001157471;NP_001157472;NP_001192123;NP_004982;NP_005232;Q03112;Q13465;XP_005247270;XP_005247271;XP_005247272;XP_005247273;XP_005247276;XP_005247277;XP_005247278;XP_005247280;XP_005247281;XP_005247282;XP_005247283;XP_006713599;XP_006713600 Hs.744090 1340848;1644247;1659196;1660363;1705860;1713423;1717371;1719239;1719635;1747941;1750127;1756933;1761469;2121158;2130390;2151437;2152172;2181440;5093024;5127666;7189751;7189753 A009E23;D15S1165;D3S1282;G32475;G66892;RH119568;RH122176;RH123340;RH123722;RH36509;RH48013;SGC38138;SHGC-10621;SHGC-112224;SHGC-144103;SHGC-145476;SHGC-2494;SHGC-77512;SHGC-77524;SHGC-81191 AML1-EVI-1;EVI1;MDS1;MDS1-EVI1;MGC163392;MGC97004;PRDM3 AML1-EVI-1 fusion protein;MDS1 and EVI1 complex locus protein EVI1;MDS1 and EVI1 complex locus protein MDS1;OTTHUMP00000213163;OTTHUMP00000213164;OTTHUMP00000213165;OTTHUMP00000213187;OTTHUMP00000213191;OTTHUMP00000213192;ecotropic viral integration site 1;ecotropic virus integration site 1 protein homolog;myelodysplasia syndrome 1 protein;myelodysplasia syndrome-associated protein 1;oncogene EVI1;zinc finger protein Evi1 APPROVED protein-coding ENSG00000085276 HGNC:3498 01310 165215 REVIEWED 1322332 ME3 malic enzyme 3, NADP(+)-dependent, mitochondrial Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 11 11 11 cen-q22.3 83462760 83694235 - 86152150 86383678 - 86441108 86672636 - 1580863;6480464;6907045;8554872 12023963;12477932;14702039;18959763;19236308;19416979;20379614;20471030;20800603;20877624;23648065;24025145;24816145;511162;7818469;8889548 10873 B2R995;E9PKA0;E9PMB9;E9PND9;E9PNN2;Q16798;Q6TCH8 AA403046;AA449933;ABBA01017321;ABBA01017322;AI198184;AI560417;AI948779;AK092181;AK300974;AK313695;AMYH02025232;AMYH02025233;AP001148;AP001831;AP002492;AY424278;BC022472;BM906572;BQ882896;CB306059;CH471076;DC388623;NM_001014811;NM_001161586;NM_006680;X79440;XM_005273717;XM_006718423;XR_247183 AAH22472;AAR04784;ABM83306;ABM84211;ABM87616;BAC03822;BAG36442;BAH13386;CAA55956;EAW75138;EAW75139;EAW75140;EAW75141;EAW75142;NP_001014811;NP_001155058;NP_006671;Q16798;XP_005273774;XP_006718486 Hs.199743 1659306;1673571;1674964;1682982;1756965;1768254;1782402;1782468;1857306;2130425;2173872;2179128;2183443;5491457 D11S360;D11S800;G10364;HSC2HH112;MARC_13809-13810:1046871162:1;RH15865;RH66727;RH92528;SGC31065;SHGC-144137;SHGC-154704;SHGC-156111;WI-16172;WI-21566 FLJ34862;NADP-ME NADP-dependent malic enzyme, mitochondrial;OTTHUMP00000235498;OTTHUMP00000235499;malate dehydrogenase;malic enzyme, NADP+-dependent, mitochondrial;mitochondrial NADP(+)-dependent malic enzyme 3;pyruvic-malic carboxylase APPROVED protein-coding ENSG00000151376 HGNC:6985 06862 604626 REVIEWED 1606637 MED11 mediator complex subunit 11 MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008] 17 17 17 p13.2 4649916 4652104 + 4634723 4636902 + 4731428 4733607 + 6480464 12477932;12584197;14576168;14638676;15175163;15989967;18976975;20133760;21729782;21832049;22939629;23275444;23322298;23602568;24250222;24816145 400569 I3L2Q0;I3L3E8;Q9P086 ABBA01054772;AC091153;AF161414;AMYH02032832;BC070377;CH471108;HG518163;NM_001001683 AAF28974;AAH70377;CDI06886;EAW90417;NP_001001683;Q9P086 Hs.513885 1697918;1699510;2162217 RH102488;RH103349;STS-W86753 HSPC296;MGC88387 mediator of RNA polymerase II transcription subunit 11;mediator of RNA polymerase II transcription, subunit 11 homolog APPROVED protein-coding ENSG00000161920 HGNC:32687 14709 612383 PROVISIONAL 1352033 MED12L mediator complex subunit 12-like The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010] 3 3 3 q25.1 149217541 149572796 + 150803452 151154465 + 151086798 151436677 + 6480464;8554872 10997877;11524702;12477932;14702039;19762545;19913121;20379614;20467438;20628086;24023788 116931 F8WAE6;H7C4I9;Q86YW9 AB046855;ABBA01058908;ABBA01058909;ABBA01058910;ABBA01058911;ABBA01058912;ABBA01058913;AC024886;AC078816;AC108726;AF087980;AF090917;AF388364;AF388365;AF399708;AK022714;AK124913;AK128165;AMYH02007894;AMYH02007895;AMYH02007896;AMYH02007897;AMYH02007898;AMYH02007899;AMYH02007900;AMYH02007901;BC144559;BX108326;CH471052;KF510224;NG_021244;NM_053002;XM_006713487 AAF24035;AAI44560;AAI72368;AAL09579;AAL09580;AAO38813;BAB13461;BAB14198;BAG54642;EAW78800;EAW78801;EAW78802;NP_443728;Q86YW9;XP_006713550 Hs.744234 1337856;1338430;1340218;1655063;1666156;1668325;1686780;1687534;1699070;1723147;1729369;1729373;1729375;1729387;1729389;1729391;1729393;1729395;1729397;1729399;1729401;1729403;1729405;1729407;1729409;1759119;1773219;1784790;1793096;1794608;1794610;1851324;2106483;2107705;2113728;2121281;2127857;2187575;2219420;5100332;7186207 AB062981;D3S1279;D3S1594;D3S3625;D3S3817;D3S3882;D3S4238;G54346;G54348;G54349;G54357;G54358;G54359;G54360;G54361;G54362;G54363;G54365;G54366;G54368;G54369;G54370;G54371;GPR86_4097;P2RY12__5801;PMC196132P2;PMC328092P1;PMC328092P2;RH103111;RH123758;RH25242;RH91840;RH98359;SHGC-13689;SHGC-151126;SHGC-155106;SHGC-44399;STS-D13626;TRALPUSH__5128;WI-14128 FLJ46288;KIAA1635;TNRC11L;TRALP NOPAR;OTTHUMP00000216726;OTTHUMP00000216773;TRALPUSH;mediator of RNA polymerase II transcription subunit 12-like protein;mediator of RNA polymerase II transcription, subunit 12 homolog-like;no opposite paired repeat protein;thyroid hormone receptor-associated-like protein;trinucleotide repeat-containing gene 11 protein-like APPROVED protein-coding ENSG00000144893 HGNC:16050 10278 611318 REVIEWED 1604270 MED10 mediator complex subunit 10 MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008] 5 5 5 p15.31 6397998 6404598 - 6372039 6378639 - 6371926 6378526 - 6480464 10024883;10198638;10882111;10993082;11867769;12101254;12149480;12477932;12584197;14576168;14638676;15175163;15334068;15657623;15989967;16169070;16303743;20133760;21139048;21729782;21890473;21900206;21963094;22939629;23275444;23322298;23602568 84246 Q9BTT4 AA648258;ABBA01016143;AC010635;AC093307;AK075493;AMYH02010803;AY277599;AY453397;AY598325;BC003353;BI597082;CH471102;FJ515848;NM_032286 AAH03353;AAQ18038;AAS47514;AAT06736;ACS13739;EAX08110;NP_115662;Q9BTT4 Hs.13885 1712076;2110569;2129704;2151932 G54086;MGC5309__7724;RH45323;STS-H90053 L6;MGC5309;NUT2;TRG-17;TRG-20;TRG20 OTTHUMP00000220564;mediator of RNA polymerase II transcription subunit 10;mediator of RNA polymerase II transcription subunit 10-like protein;mediator of RNA polymerase II transcription, subunit 10;transformation-related gene 17 protein;transformation-related gene 20 protein APPROVED protein-coding ENSG00000133398 HGNC:28760 14680 612382 VALIDATED 1350145 MED12 mediator complex subunit 12 The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009] X X X q13 70692310 70716179 + 70338406 70362304 + 71118556 71142454 + 1358728;6480464;7240710;8554872;8699517 12216017 10198638;10235266;10235267;10480376;10882111;11424983;11524702;11834832;11840515;11867769;11984006;12037571;12136106;12218053;12477932;12584197;12612078;12627458;12660246;12777533;12860370;14636573;14638676;14657022;15108174;15175163;15717329;15989967;16109376;16344560;16538184;16565090;16799563;17000779;17081983;17088561;17110338;17299734;17334363;17369503;17716226;17967894;18029348;18418385;18691967;18973276;19036726;19047373;19240132;19596686;19946888;20098423;20133760;20301719;20507344;20508642;20720539;21139048;21293490;21729782;21868628;21890473;21963094;21987572;22182697;22223266;22428002;22505724;22532225;22586326;22768200;22939629;23091001;23132392;23178117;23222489;23225304;23275444;23322298;23347103;23395478;23443020;23517922;23563140;23602568;23635816;23661306;23913526;24039113;24163370;24196187;24457600;24816145;8710870;8724849;8781769;8889548;9225980;9375929;9702738 9968 H7C191;H7C274;Q93074 AB102551;AB102552;AB102553;AB102554;AB102555;AB102556;AB102557;AB102558;AB102559;AB102560;AB102561;AB102562;AB102563;AB102564;AB102565;AB102566;AB102567;AB102568;AB102569;AB102570;AB102581;AB102582;AB102583;AB102584;AB102585;AB102586;AB102587;AB102588;AB102589;AB102590;AB102591;AB102592;AB102593;AB102594;AB102595;AB102596;AB102597;AB102598;AB102599;AB102600;AB102611;AB102612;AB102613;AB102614;AB102615;AB102616;AB102617;AB102618;AB102619;AB102620;AB102621;AB102622;AB102623;AB102624;AB102625;AB102626;AB102627;AB102628;AB102629;AB102630;AB102668;ABBA01067668;ABBA01067669;ABBA01067670;ABBA01067671;ABBA01067672;ABBA01067673;ABBA01067674;AF071309;AF132033;AJ306428;AK302543;AL590764;AMYH02039671;BM662470;CH471132;D83783;DB069668;FN430679;NG_012808;NM_005120;U23863;U80742;XM_005262317;XM_005262319 AAB91440;AAC83163;AAD44162;AAI56137;AAI56979;BAA12112;BAC81020;BAC81021;BAC81022;BAC81023;BAC81024;BAC81025;BAC81026;BAC81027;BAC81028;BAC81029;BAC81030;BAC81031;BAC81032;BAC81033;BAC81034;BAC81035;BAC81036;BAC81037;BAC81038;BAC81039;BAC81050;BAC81051;BAC81052;BAC81053;BAC81054;BAC81055;BAC81056;BAC81057;BAC81058;BAC81059;BAC81060;BAC81061;BAC81062;BAC81063;BAC81064;BAC81065;BAC81066;BAC81067;BAC81068;BAC81069;BAC81080;BAC81081;BAC81082;BAC81083;BAC81084;BAC81085;BAC81086;BAC81087;BAC81088;BAC81089;BAC81090;BAC81091;BAC81092;BAC81093;BAC81094;BAC81095;BAC81096;BAC81097;BAC81098;BAC81099;BAC81137;BAG63815;CAC84084;CAZ90628;EAX05314;EAX05315;EAX05316;EAX05317;EAX05318;NP_005111;Q93074;XP_005262374;XP_005262376 Hs.409226 1675393;1703024;2132391;5119174 DXS441;DXS7537;RH25405;RH79662 ARC240;CAGH45;FGS1;HOPA;KIAA0192;MED12S;OKS;OPA1;TNRC11;TRAP230 CAG repeat protein 45;OHDOX;OPA-containing protein;OTTHUMP00000023490;OTTHUMP00000023491;OTTHUMP00000023493;activator-recruited cofactor 240 kDa component;human opposite paired;mediator of RNA polymerase II transcription subunit 12;mediator of RNA polymerase II transcription, subunit 12 homolog;mediator of rna polymerase ii transcription, subunit 12 homolog (yeast);putative mediator subunit 12;thyroid hormone receptor-associated protein complex 230 kDa component;thyroid hormone receptor-associated protein, 230 kDa subunit;trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit);trinucleotide repeat-containing gene 11 protein APPROVED protein-coding ENSG00000184634 HGNC:11957 02176 300188;300895;305450;309520 REVIEWED 4110708 MED13P1 mediator complex subunit 13 pseudogene 1 X Y Y q11.221 4005720 4005892 + 17019776 17019948 + 14907896 14908068 + 9847074 100499481 ABBA01056995;AC017032;NG_023546 pseudo HGNC:38733 INFERRED 1312495 MED13 mediator complex subunit 13 This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008] 17 17 17 q22-q23 59121027 59243778 - 60019966 60142643 - 61942605 62065282 - 1580863;6480464;8554872 10024883;10198638;10235266;10235267;10882111;11042152;11454195;11834832;11867769;12037571;12050112;12150923;12218053;12421765;12477932;14638676;14657022;14702039;15146197;15175163;15302935;15342556;15896744;15989967;16799563;17081983;17967894;18418385;19240132;19730683;19946888;20098423;20133760;20379614;20508642;21139048;21729782;21906983;22939629;23322298;23563140;23602568;8710870;9628581 9969 J3QRB7;Q9UHV7 AB011165;ABBA01035371;ABBA01035372;ABBA01035373;ABBA01035374;AC008158;AC018628;AC060798;AF117754;AF151055;AK054894;AMYH02033752;AMYH02033753;AMYH02033754;AMYH02033755;AMYH02033756;BC044258;BC140891;BP332524;BQ709424;CH471179;CN273870;CQ834416;KF456300;NM_005121 AAD22032;AAF36141;AAI40892;BAA25519;CAH05423;EAW51437;EAW51438;EAW51439;NP_005112;Q9UHV7 Hs.282678 1676069;1677006;1689672;1723421;1738969;1767971;1783480;2106721;2123423;2172327;5017677;5019739 A009M23;D17S1598;G32669;RH118523;RH17559;RH79872;RH91246;RH91848;SHGC-133090;THRAP1;THRAP1__5254;WI-20400 ARC250;DRIP250;HSPC221;KIAA0593;THRAP1;TRAP240 activator-recruited cofactor 250 kDa component;mediator of RNA polymerase II transcription subunit 13;mediator of RNA polymerase II transcription, subunit 13 homolog;thyroid hormone receptor associated protein 1;thyroid hormone receptor-associated protein 1;thyroid hormone receptor-associated protein complex 240 kDa component;thyroid hormone receptor-associated protein complex component TRAP240;thyroid hormone receptor-associated protein, 240 kDa subunit;vitamin D3 receptor-interacting protein complex component DRIP250 APPROVED protein-coding ENSG00000108510 HGNC:22474 07229 603808 REVIEWED 1351174 MED1 mediator complex subunit 1 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008] 17 17 17 q12 34221470 34268494 - 37560538 37607527 - 39404285 39451274 - 1580863;5128512;6480464;8554872 16394250 10024883;10037764;10198638;10235266;10235267;10478845;10485914;10508170;10733574;10760302;10770935;10882111;10935544;11027271;11117530;11118038;11266503;11438648;11500849;11724781;11840331;11867769;11912212;12037571;12082103;12089346;12101254;12130544;12145330;12189208;12218053;12356758;12477932;12556447;12562779;12584197;12738788;12796488;14636573;14638676;14657022;14983011;15026545;15095040;15175163;15187081;15302935;15342556;15471764;15572376;15604093;15848166;15863722;15886699;15919092;15989967;16055720;16204234;16239144;16239257;16314496;16396960;16434701;16554032;16574658;16723356;16799563;16934225;16964243;17081983;17082781;17117180;17132730;17223341;17254542;17468099;17478428;17502350;17641689;17786964;17827210;17967894;18003614;18339625;18391015;18418385;18660489;18691967;18950845;19127118;19183483;19243021;19255064;19322201;19497978;19521987;19766566;19913121;19946888;20098423;20133760;20160030;20398753;20473893;20508642;20520624;20534441;20628086;21139048;21292004;21326907;21454576;21556051;21729782;21868449;21988832;22102282;22331469;22342682;22343046;22869146;22939629;22964581;23160722;23275444;23322298;23538858;23563140;23602568;23824909;23936234;24245781;24390342;24816145;7776974;8710870;9325263;9444950;9653119;9989412 5469 J3KSD7;J3QKZ7;Q15648 ABBA01031867;ABBA01031868;ABBA01031869;ABBA01031870;AC005288;AC009283;AF055994;AF157513;AF283812;AK299789;AK314185;AMYH02033377;AMYH02033378;AMYH02033379;BC006517;BC060758;BC131783;BP357374;CH471152;L40366;NM_004774;XM_005257465;XM_006721957;Y13467 AAC39854;AAC41736;AAF98352;AAH06517;AAH60758;AAI31784;ADZ15646;BAG36866;BAG61669;CAA73867;EAW60575;NP_004765;Q15648;XP_005257522;XP_006722020 Hs.643754 1651854;1664253;1683299;1686851;1746357;1774821;2117170;2117429;2137236;2190949;5096757 G64397;MARC_12057-12058:1004548952:1;PPARBP_2041;RH11014;RH12583;RH47206;RH64892;RH79708;RH91484;SGC32796;SHGC-36242 ARC205;CRSP1;CRSP200;DRIP205;DRIP230;MGC71488;PBP;PPARBP;PPARGBP;RB18A;TRAP220;TRIP-2;TRIP2 OTTHUMP00000164284;OTTHUMP00000164285;PPAR binding protein;PPAR-binding protein;PPARG binding protein;TR-interacting protein 2;activator-recruited cofactor 205 kDa component;mediator of RNA polymerase II transcription subunit 1;p53 regulatory protein RB18A;peroxisome proliferator-activated receptor-binding protein;thyroid hormone receptor-associated protein complex 220 kDa component;thyroid hormone receptor-associated protein complex component TRAP220;thyroid receptor interacting protein 2;thyroid receptor-interacting protein 2;vitamin D receptor-interacting protein 230 kD;vitamin D receptor-interacting protein complex component DRIP205 APPROVED protein-coding ENSG00000125686 HGNC:9234 05055 604311 REVIEWED 1314183 MED13L mediator complex subunit 13-like The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010] 12 12 12 q24.21 116025985 116344576 - 116396381 116714991 - 115958576 116277186 - 1580649;6480464;7240710;8554872;8699517 14638541 10470851;12168954;12477932;14702039;15145061;15175163;20379614;21729782;21761138;21906983;22249253;23322298;23403903;23602568 23389 F8VRB8;H0YHC1;H0YIQ7;H0YIQ9;Q71F56 AB028948;ABBA01019997;ABBA01019998;ABBA01019999;ABBA01020000;ABBA01020001;ABBA01020002;ABBA01020003;AC009321;AC012157;AC026334;AC060226;AC130895;AF515599;AK023837;AK025280;AK127706;AL133033;AL137644;AMYH02027277;AMYH02027278;AMYH02027279;AMYH02027280;AMYH02027281;AMYH02027282;AMYH02027283;AMYH02027284;AY338463;BC038768;BC130422;CH471054;CR749332;NG_023366;NM_015335;XM_006719305;XM_006719306;XM_006719307 AAI30423;AAQ08182;AAR08418;BAA82977;BAB14697;BAB15103;CAB61363;CAB70855;CAH18186;EAW98081;NP_056150;Q71F56;XP_006719368;XP_006719369;XP_006719370 Hs.603766;Hs.715095 1648276;1663826;1680952;1682379;1710314;1712414;1712522;1713689;1716661;1717359;1739135;1746609;1746643;1754533;2124967;2140524;2148062;2157009;2159084;2181735;5093942;5094078 A009F32;A009Z17;D12S1112;D12S1357;G33014;G34960;G54211;G54241;G64563;G64564;RH120727;RH121588;RH122170;RH1606;RH46450;RH80999;SGC38179;SHGC-132816;SHGC-52532;SHGC-82396;STS-Z40829;WI-16346 DKFZp781D0112;FLJ21627;KIAA1025;PROSIT240;THRAP2;TRAP240L OTTHUMP00000241000;mediator of RNA polymerase II transcription subunit 13-like;thyroid hormone receptor associated protein 2;thyroid hormone receptor-associated protein 2;thyroid hormone receptor-associated protein complex 240 kDa component-like APPROVED protein-coding HGNC:22962 10579 608771;608808 REVIEWED 6481333 MED14OS MED14 opposite strand DISCONTINUED: This gene prediction was withdrawn by NCBI staff because of lack of EST or mRNA support. p11.4 12477932 100873985 AC092474;AC093029;BC039399;HG512499;NM_001289773 NP_001276702 Hs.460579 MED14-AS1 MED14 antisense RNA 1;uncharacterized protein LOC100873985 APPROVED protein-coding HGNC:40162 VALIDATED 1343255 MED14P1 mediator complex subunit 14 pseudogene 1 X Y Y q11.1 1724204 1739619 - 14730917 14746332 - 12618985 12634401 - 12815422 359791 ABBA01065629;ABBA01065630;ABBA01065631;ABBA01065632;AC004617;AC004810;AC244504;NG_002807 1746055;2188307;2188317;5114641 DYS388;G49203;G66186;G66192 CRSP2P;CXorf4P;MED14P APPROVED pseudo HGNC:2371 INFERRED 1343143 MED15P1 mediator complex subunit 15 pseudogene 1 14 14 14 q11.2 1 2350 - 19498019 19502383 - 19485323 19489687 + 326615 AL512624;AMYH02028782;NG_002605 MED15P;PCQAPP APPROVED pseudo HGNC:19271 INFERRED 7245855 MED15P4 mediator complex subunit 15 pseudogene 4 2 2 2 q21.1 126018516 126019833 - 132291917 132295005 - 131534344 131537432 - 100127989 ABBA01028229;AC093838;AMYH02004810;CH471058;NG_023317 EAX11691 pseudo HGNC:48653 INFERRED 7245927 MED15P5 mediator complex subunit 15 pseudogene 5 2 2 2 q21.1 124282405 124283640 + 131009075 131010310 + 130251502 130252737 + 391436 ABBA01017954;AC068137;AC134915;AMYH02004775;NG_021585 pseudo HGNC:48654 INFERRED 7245835 MED15P6 mediator complex subunit 15 pseudogene 6 14 14 20021205 20074901 + 18912805 18916955 - 100996438 AL929601;AMYH02028801;AMYH02028802;AMYH02028803;AMYH02028804;AMYH02028805;AMYH02028806;AMYH02028807 pseudo HGNC:48655 MODEL 7245656 MED15P7 mediator complex subunit 15 pseudogene 7 22 22 16288909 16342783 + 15635180 15689054 - 100996466 ABBA01165217;AMYH02037969;AP000530;AP000531;CR545463 pseudo HGNC:48656 MODEL 1349232 MECP2 methyl CpG binding protein 2 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq, Jul 2009] X X X q28 153520969 153596868 - 153287025 153363188 - 154021800 154097731 - 728918;1601320;1580863;1601318;1601319;6480464;7240710;8554872;8699517;8695954 11214906;11309367;1606614;16183801;23324617 10232754;10369871;10398236;10508514;10518942;10577905;10723722;10745042;10756192;10767337;10773092;10814718;10814719;10854091;10944854;10986043;10991688;10991689;11007980;11022934;11055898;11076863;11238684;11241840;11256614;11269512;11283202;11313756;11376998;11402105;11432961;11441023;11462237;11524737;11524741;11691937;11706982;11738883;11748221;11768391;11805248;11807877;11809720;11836365;11885030;11896459;11896461;11913564;11930274;11955928;12030010;12075485;12081725;12107440;12111643;12111644;12161600;12170461;12180070;12210319;12325019;12384770;12399542;12427740;12442230;12449561;12473678;12477932;12481990;12535940;12545250;12555243;12567420;12615169;12640384;12646234;12707946;12746406;12770674;12872250;12966522;12966523;14529314;14560307;14593184;14598336;14612906;14618241;14623222;14633992;14647463;14649548;14649549;14974082;14981718;15034150;15034579;15056664;15057977;15109260;15211631;15302935;15322089;15351775;15367913;15489334;15489336;15526354;15557528;15578581;15635068;15675358;15689352;15689435;1569166;15696166;15712379;15757975;15772651;15809268;15814190;15857422;15917271;15954098;15959553;16077729;16077736;16080119;16182491;16182497;16199017;16251272;16331260;16331274;16381901;16389588;16399702;16473305;16613900;16647997;16672765;16681803;16682435;16708070;16763620;16780651;16832102;16879196;16905679;16932552;16966553;17026625;17084570;17088400;17089071;17101000;17101771;17142618;17171659;17172942;17236109;17296936;17309881;17339270;17351020;17383248;17387578;17407838;17413451;17420401;17427193;17440498;17486179;17486180;17531413;17634428;17660293;17684768;17698499;17701895;17712354;17881312;17965611;17965612;17968969;17986102;18029348;18042715;18075316;18174548;18174559;18184939;18190595;18295506;18310203;18320046;18332345;18337588;18385275;18434641;18477000;18499664;18512755;18535484;18652533;18666890;18688080;18773074;18820302;18842453;18985075;18989701;19000991;19018795;19034540;19057379;19058783;19058789;19125863;19133691;19165708;19168818;19174478;19189931;19190538;19194883;19309269;19309283;19322201;19324899;19331822;19333917;19365833;19386901;19442733;19464849;19471022;19495527;19552836;19559301;19562714;19573459;19592282;19652677;19664534;19717458;19722030;19724012;19736351;19806472;19820693;19844254;19898528;19900619;19913121;19914908;20007372;20019788;20031356;20032179;20032810;20035514;20065105;20093853;20098342;20116947;20207612;20215141;20301323;20301334;20301461;20301615;20301670;20345957;20368621;20376788;20385708;20400852;20405910;20420693;20425298;20425814;20425824;20479760;20491871;20497345;20504995;20628086;20631224;20661168;20682201;20697302;20728410;20811636;20881011;20956852;21085180;21119712;21151932;21278419;21300488;21316312;21326285;21372149;21435439;21467044;21530498;21531908;21632916;21636779;21654506;21731748;21821449;21824415;21825235;21831886;21865261;21871116;21878110;21888765;21890473;21940684;21954873;21982064;21988832;22009741;22030772;22113206;22119903;22123427;22129561;22182064;22213695;22262897;22275515;22277191;22331013;22348320;22357617;22363746;22378884;22427975;22455563;22473088;22474603;22476991;22497713;22525432;22528406;22532851;22561697;22578097;22615490;22707285;22751105;22781840;22783988;22848609;22877836;22883432;22904263;22909152;22939629;23015442;23055267;23123205;23135915;23169761;23226951;23233309;23238081;23260135;23262346;23349465;23400946;23428850;23431031;23444193;23446634;23449173;23452848;23493374;23514909;23565077;23619607;23624957;23633923;23659895;23696494;23750231;23770565;23791832;23857988;23866855;23948639;24043878;24094964;24129071;24129406;24150225;24163370;24199952;24250222;24291980;24300809;24328834;24390342;24528171;24531693;24657437;24671997;24709033;24738188;24750837;24777420;24816145;24914495;25076025;8563762;8672133;8976388;9038338;9171351;9222958;9377804;9546328;9620779;9620804;9710633 4204 B5MCB4;C9JH89;D3YJ43;H7BY72;P51608;Q59FJ6 AB209464;ABBA01045312;ABBA01045313;ABBA01045314;ABBA01045315;ABBA01045316;ABBA01045317;ABBA01045318;ABBA01045319;ABBA01045320;ABBA01045321;ABBA01045322;AC244097;AF030876;AF158180;AJ132917;AK289444;AMYH02040852;AMYH02040853;AY541280;BC011612;BC031833;BX538060;CH471172;GQ203293;GQ203294;GQ203295;GQ896382;GU479943;GU812285;GU812286;HM020402;HM156732;HM156733;HQ141377;HQ141378;HQ154629;L37298;NG_007107;NM_001110792;NM_004992;U52112;X89430;X94628;X99686;XM_005274681;XM_005274682;XM_005274683;XM_006724819;Y12643 AAC08757;AAC32737;AAF33023;AAH11612;AAH31833;AAS55455;ABM82865;ABW03457;ACS92725;ACS92726;ACY24448;ADD17354;ADE87881;ADE87882;ADG26557;ADK25710;ADK25711;ADM88591;ADW01219;ADW01220;BAD92701;BAF82133;CAA61599;CAA64331;CAA68001;CAA73190;CAB46446;CAD97991;CAL37435;EAW72757;EAW72758;EAW72759;NP_001104262;NP_004983;P51608;XP_005274738;XP_005274739;XP_005274740;XP_006724882 Hs.200716;Hs.702514 1341292;1684776;1685111;1702682;1703022;1795174;1800250;1800406;1801492;1802184;1802488;1802606;1802852;1803126;1803506;1804556;1804602;1805320;1805658;1806120;1806326;1806940;1807430;1810542;1811932;1813086;1813460;1814848;1815146;1815148;1815474;1816542;1816620;1816694;1818572;1819994;1820474;1821392;1822174;1822296;1825202;1825268;1826250;1826316;1826686;1826772;1826878;1826880;1828138;1829214;1829300;1829544;1831168;1831736;1832022;1832710;1834552;1834680;1834978;1835306;1835734;1836698;1836916;1838582;1838624;1839094;1840250;1841258;1841562;1841810;1843040;1844220;1845336;1845438;1845518;1846046;1856498;2035010;2035012;2035014;2035016;2035018;2035022;2035024;2035026;2035028;2035030;2035032;2035034;2035036;2035038;2035042;2035044;2035046;2035048;2035050;2035052;2035054;2035056;2035058;2035060;2035062;2035064;2035066;2035068;2035070;2035072;2035074;2035098;2035100;2035102;2035104;2035106;2035108;2035110;2035112;2035114;2035116;2035118;2035120;2035122;2035124;2035126;2035128;2035130;2035132;2035134;2035136;2035138;2035140;2035142;2035144;2035146;2035148;2035150;2035152;2035154;2035156;2035158;2035160;2035162;2035164;2035166;2035168;2035170;2035172;2035174;2035176;2035178;2035180;2035182;2035184;2035186;2035188;2035190;2035192;2035194;2035196;2035198;2035200;2035202;2035204;2035206;2035208;2035210;2035212;2035214;2035216;2035218;2035220;2035222;2035224;2035226;2035228;2035230;2035232;2035234;2035236;2035238;2035240;2035242;2035244;2035246;2035248;2035250;2035252;2035254;2035256;2035258;2035260;2035262;2035264;2035266;2035268;2035270;2035272;2035274;2035276;2035278;2035280;2035282;2035284;2035286;2035288;2035290;2035292;2035294;2035296;2035298;2035300;2035302;2035304;2035306;2035308;2035310;2035312;2035314;2035316;2035318;2035320;2035322;2035324;2035326;2035328;2035330;2035332;2035334;2035336;2035338;2035340;2035342;2035344;2035346;2035348;2035350;2035352;2035354;2035356;2035358;2035360;2035362;2035364;2035366;2035368;2035370;2035372;2035374;2035376;2035378;2035380;2035382;2035384;2035386;2035388;2035390;2035392;2035394;2035396;2035398;2035400;2035402;2035404;2035406;2035408;2035410;2035412;2035414;2035416;2035418;2035420;2035422;2035424;2035426;2035428;2035430;2035432;2035434;2035436;2035438;2035440;2035442;2035444;2035446;2035448;2035450;2035452;2035454;2035456;2035458;2035460;2035462;2035464;2035466;2035468;2035470;2035472;2035474;2035476;2035478;2035480;2035482;2035484;2035486;2035488;2035490;2035492;2035494;2035496;2035498;2035500;2035502;2035504;2035506;2035508;2035510;2035512;2035514;2035516;2035518;2035520;2035522;2035524;2035526;2035528;2035530;2035532;2035534;2035536;2035538;2035540;2035542;2035544;2035546;2035548;2035550;2035552;2035554;2035556;2035558;2035560;2035562;2035564;2035566;2035568;2035570;2035572;2035574;2035576;2035578;2035580;2035582;2035584;2035586;2035588;2035590;2035592;2035594;2035596;2035598;2035600;2035602;2035604;2035606;2035608;2035610;2035612;2035614;2035616;2035618;2035620;2035622;2035624;2035626;2035628;2035630;2035632;2035634;2035636;2035638;2035640;2035642;2035644;2035646;2035648;2035650;2035652;2035654;2035656;2035658;2035660;2035662;2035664;2035666;2035668;2035670;2035672;2035674;2035676;2035678;2035680;2035682;2035684;2035686;2035688;2035690;2035692;2035694;2035696;2035698;2035700;2035702;2035704;2035706;2035708;2035710;2035712;2035714;2035716;2035718;2035720;2035722;2035724;2035726;2035728;2035730;2035732;2035734;2035736;2035738;2102226;2102228;2102230;2102232;2102238;2102240;2102242;2102244;2102246;2102248;2102250;2102252;2102254;2102256;2102258;2102260;2102262;2102264;2102266;2102268;2102270;2102272;2102274;2102276;2102278;2102280;2102282;2102284;2102286;2102288;2102290;2102292;2102294;2102296;2102298;2102300;2102302;2102304;2102306;2102308;2102310;2102312;2102314;2102316;2102318;2102320;2102322;2102324;2102326;2102328;2102330;2102332;2160611;2218564;5094506 DXS1012E;DXS7069;DXS8103;ECD00983;ECD01063;ECD01621;ECD01974;ECD02130;ECD02190;ECD02314;ECD02454;ECD02651;ECD03207;ECD03233;ECD03607;ECD03779;ECD04014;ECD04118;ECD04435;ECD04686;ECD06264;ECD06970;ECD07562;ECD07751;ECD08455;ECD08607;ECD08608;ECD08773;ECD09313;ECD09352;ECD09390;ECD10348;ECD11068;ECD11312;ECD11780;ECD12173;ECD12235;ECD13702;ECD13735;ECD14237;ECD14271;ECD14457;ECD14500;ECD14554;ECD14555;ECD15192;ECD15734;ECD15779;ECD15903;ECD16720;ECD17005;ECD17149;ECD17496;ECD18424;ECD18488;ECD18640;ECD18808;ECD19024;ECD19513;ECD19622;ECD20465;ECD20486;ECD20726;ECD21309;ECD21825;ECD21978;ECD22104;ECD22728;ECD23323;ECD23885;ECD23937;ECD23977;ECD24243;G54853;HSC270_(M3);MECP2_4127;REN88514;REN88515;REN88516;REN88517;REN88518;REN88520;REN88521;REN88522;REN88523;REN88524;REN88525;REN88526;REN88527;REN88528;REN88530;REN88531;REN88532;REN88533;REN88534;REN88535;REN88536;REN88537;REN88538;REN88539;REN88540;REN88541;REN88542;REN88543;REN88544;REN88545;REN88546;REN88558;REN88559;REN88560;REN88561;REN88562;REN88563;REN88564;REN88565;REN88566;REN88567;REN88568;REN88569;REN88570;REN88571;REN88572;REN88573;REN88574;REN88575;REN88576;REN88577;REN88578;REN88579;REN88580;REN88581;REN88582;REN88583;REN88584;REN88585;REN88586;REN88587;REN88588;REN88589;REN88590;REN88591;REN88592;REN88593;REN88594;REN88595;REN88596;REN88597;REN88598;REN88599;REN88600;REN88601;REN88602;REN88603;REN88604;REN88605;REN88606;REN88607;REN88608;REN88609;REN88610;REN88611;REN88612;REN88613;REN88614;REN88615;REN88616;REN88617;REN88618;REN88619;REN88620;REN88621;REN88622;REN88623;REN88624;REN88625;REN88626;REN88627;REN88628;REN88629;REN88630;REN88631;REN88632;REN88633;REN88634;REN88635;REN88636;REN88637;REN88638;REN88639;REN88640;REN88641;REN88642;REN88643;REN88644;REN88645;REN88646;REN88647;REN88648;REN88649;REN88650;REN88651;REN88652;REN88653;REN88654;REN88655;REN88656;REN88657;REN88658;REN88659;REN88660;REN88661;REN88662;REN88663;REN88664;REN88665;REN88666;REN88667;REN88668;REN88669;REN88670;REN88671;REN88672;REN88673;REN88674;REN88675;REN88676;REN88677;REN88678;REN88679;REN88680;REN88681;REN88682;REN88683;REN88684;REN88685;REN88686;REN88687;REN88688;REN88689;REN88690;REN88691;REN88692;REN88693;REN88694;REN88695;REN88696;REN88697;REN88698;REN88699;REN88700;REN88701;REN88702;REN88703;REN88704;REN88705;REN88706;REN88707;REN88708;REN88709;REN88710;REN88711;REN88712;REN88713;REN88714;REN88715;REN88716;REN88717;REN88718;REN88719;REN88720;REN88721;REN88722;REN88723;REN88724;REN88725;REN88726;REN88727;REN88728;REN88729;REN88730;REN88731;REN88732;REN88733;REN88734;REN88735;REN88736;REN88737;REN88738;REN88739;REN88740;REN88741;REN88742;REN88743;REN88744;REN88745;REN88746;REN88747;REN88748;REN88749;REN88750;REN88751;REN88752;REN88753;REN88754;REN88755;REN88756;REN88757;REN88758;REN88759;REN88760;REN88761;REN88762;REN88763;REN88764;REN88765;REN88766;REN88767;REN88768;REN88769;REN88770;REN88771;REN88772;REN88773;REN88774;REN88775;REN88776;REN88777;REN88778;REN88779;REN88780;REN88781;REN88782;REN88783;REN88784;REN88785;REN88786;REN88787;REN88788;REN88789;REN88790;REN88791;REN88792;REN88793;REN88794;REN88795;REN88796;REN88797;REN88798;REN88799;REN88800;REN88801;REN88802;REN88803;REN88804;REN88805;REN88806;REN88807;REN88808;REN88809;REN88810;REN88811;REN88812;REN88813;REN88814;REN88815;REN88816;REN88817;REN88818;REN88819;REN88820;REN88821;REN88822;REN88823;REN88824;REN88825;REN88826;REN88827;REN88828;REN88829;REN88830;REN88831;REN88832;REN88833;REN88834;REN88835;REN88836;REN88837;REN88838;REN88839;REN88840;REN88841;REN88842;REN88843;REN88844;REN88845;REN88846;REN88847;REN88848;REN88849;REN88850;REN88851;REN88852;REN88853;REN88854;REN88855;REN88856;REN88857;REN88858;REN88859;REN88860;REN88861;REN88862;REN88863;REN88864;REN88865;REN88866;REN88867;REN88868;REN88869;REN88870;REN88871;REN88872;REN88873;REN88874;REN88875;REN88876;REN88877;REN88878;RH45050;RH79177;RH80656;RH80797;stSG603763;stSG603764;stSG603765;stSG603766;stSG603772;stSG603773;stSG603774;stSG603775;stSG603776;stSG603778;stSG603779;stSG603781;stSG603782;stSG603784;stSG603786;stSG603787;stSG603788;stSG603789;stSG603790;stSG603791;stSG603792;stSG603793;stSG603794;stSG603795;stSG603797;stSG603798;stSG603799;stSG603800;stSG603801;stSG603803;stSG603804;stSG603805;stSG603806;stSG603807;stSG603808;stSG603809;stSG603810;stSG603811;stSG603812;stSG603813;stSG603814;stSG603815;stSG603816;stSG603817;stSG603818;stSG603820;stSG603821;stSG603822;stSG603823;stSG603824;stSG603825;stSG603826 AUTSX3;DKFZp686A24160;MRX16;MRX79;MRXS13;MRXSL;PPMX;RS;RTS;RTT OTTHUMP00000026021;OTTHUMP00000064436;OTTHUMP00000199821;meCp-2 protein;methyl-CpG-binding protein 2;mutant methyl CpG binding protein 2;mutant methyl CpG binding protein 2 transcript 1;mutant methyl CpG binding protein 2 variant 1 APPROVED protein-coding ENSG00000169057 HGNC:6990 02050 105830;300005;300055;300260;300496;300673;312750 REVIEWED 6766771 MED15P9 mediator complex subunit 15 pseudogene 9 2 2 2 q21.2 124167664 124169345 + 130887196 130896986 + 130129623 130139413 + 12477932;21906983 285103 ABBA01017941;AC018804;AMYH02004774;BC036597;NR_033903 Hs.570106 CCDC74B-AS1 APPROVED pseudo ENSG00000223760 HGNC:44130 VALIDATED 1343127 MED14 mediator complex subunit 14 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008] X X X p11.4 44649421 44734350 - 40508795 40595374 - 40649543 40736122 - 1580863;5147892;6480464;8554872 11306337 10024883;10198638;10235266;10235267;10508170;10770935;10882111;11416138;11834832;11867769;12037571;12089346;12101254;12218053;12477932;12509459;12660246;12825353;14576168;14636573;14638676;14657022;14702039;15175163;15302935;15604093;15625066;15989967;16109376;16204234;16239144;16239257;16799563;17081983;17132730;17306756;17474147;18187620;18418385;18854154;19805454;19946888;20098423;20133760;20194623;20508642;21139048;21729782;21890473;21906983;21963094;22939629;23000965;23275444;23322298;23563140;23572530;23602568;24163370;8619474;8710870;9110174;9598311;9734358;9989412 9282 H7C017;H7C3E5;O60244 AB006651;AB006652;ABBA01046782;ABBA01046783;ABBA01046784;ABBA01046785;ABBA01046786;ABBA01046787;ABBA01046788;ABBA01046789;ABBA01046790;ABBA01046791;ABBA01046792;ABBA01046793;ABBA01046794;AC092474;AC093029;AF070563;AF104256;AF135802;AF304448;AJ012077;AK023368;AK293070;AK308871;AMYH02039193;AMYH02039194;AMYH02039195;BC098377;BC132672;BC132674;BC144231;CH471141;KF459070;NG_016325;NM_004229;XM_005272699;XM_005272700;XM_005272701 AAD12725;AAD24360;AAG22547;AAH98377;AAI32673;AAI32675;BAA28626;BAA28627;BAF85759;EAW59419;EAW59420;NP_004220;O60244;XP_005272756;XP_005272757;XP_005272758 Hs.407604 1711830;1850698;2121359;2133209;2133892;2159348;2173012;2184529 DXS6731;DXS7582;DXS9714;G06191;G49442;STS-AA011019;STS-H16735;WI-15558 ARC150;CRSP150;CRSP2;CSRP;CXorf4;DRIP150;EXLM1;MGC104513;RGR1;TRAP170;hRGR1 CRSP complex subunit 2;OTTHUMP00000025778;RGR1 homolog;activator-recruited cofactor 150 kDa component;cofactor required for Sp1 transcriptional activation subunit 2;cofactor required for Sp1 transcriptional activation, subunit 2 (150kD);human homolog of yeast RGR1;mediator of RNA polymerase II transcription subunit 14;thyroid hormone receptor-associated protein complex 170 kDa component;thyroid hormone receptor-associated protein complex component TRAP170;transcriptional co-activator CRSP150;transcriptional coactivator CRSP150;vitamin D receptor-interacting protein complex component DRIP150;vitamin D3 receptor-interacting protein complex 150 kDa component APPROVED protein-coding ENSG00000180182 HGNC:2370 02172 300182 REVIEWED 1347067 MED18 mediator complex subunit 18 MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008] 1 1 1 p35.3 27051267 27058232 + 28655513 28662478 + 28329002 28335967 + 737633;1580863;6480464 12477932 12584197;14576168;14638676;15175163;15989967;16344560;18250152;20133760;20508642;21139048;21729782;21906983;22622162;22939629;23275444;23602568;24250222;24816145 54797 B4DJL3;Q9BUE0 AB107222;ABBA01035021;AK000052;AK296130;AL353622;AMYH02000623;BC002694;BG752399;CH471059;DA090416;NM_001127350;NM_017638;XM_005245914 AAH02694;BAA90910;BAD06869;BAG58875;EAX07699;EAX07700;EAX07701;EAX07702;NP_001120822;NP_060108;Q9BUE0;XP_005245971 Hs.479911 1698200;5117897 GDB:631813;RH102636 FLJ20045;p28b OTTHUMP00000003645;TRAP/mediator complex subunit p28b;mediator of RNA polymerase II transcription subunit 18;mediator of RNA polymerase II transcription, subunit 18 homolog;mediator of rna polymerase ii transcription, subunit 18 homolog (yeast) APPROVED protein-coding ENSG00000130772 HGNC:25944 17476 612384 VALIDATED 1313299 MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013] 12 12 12 q14.3-q15 68865796 68903026 + 69201952 69239324 + 68808172 68845544 + 1580863;2293626;2317393;2317412;2317415;2317417;2317397;2317401;2317409;2317361;2317414;2317357;2316186;2317416;2316155;2316156;2317395;6480464;6484113;6907045;7240710;8663434 14555611;14644432;15165363;15563574;15619210;15777295;15810085;15844214;1614537;16505435;16601750;19165225;19450511;19752772;19850968;20019189;23262034 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4193 A7UKX7;A7UKX8;A7UKX9;A7UKY0;E5RHE2;E5RJQ0;E7EMW5;E7EPE2;F5GWH7;F5GZB0;F5GZC3;F5H1M7;F5H4Q8;F6RKA8;G3XA89;J3KN53;J3QST1;Q00987;Q8NDW1;Q96DS0;Q96DS5;Q9H4C3;Q9H4C5 AA708958;ABBA01026550;AC025423;AF092843;AF092844;AF092845;AF201370;AF201371;AF385322;AF385323;AF385324;AF385325;AF385326;AF385327;AF527840;AJ251943;AJ276888;AJ278975;AJ278976;AJ278977;AJ278978;AJ430612;AJ430613;AJ430614;AJ491698;AJ491699;AJ491700;AJ491701;AJ517838;AJ517839;AJ517840;AJ550516;AJ550517;AJ550518;AJ550519;AJ550520;AK290341;AK312105;AMYH02026700;AMYH02026701;AMYH02026702;AX057138;BC006795;BC065505;BC107414;BC152384;BC152390;BE296905;BE930512;BF208689;BT007258;CH471054;EU076746;EU076747;EU076748;EU076749;GQ848196;HM213901;HM213902;HM213903;HM213904;HY174841;JX015379;JX015380;JX015381;JX015382;JX015383;JX015384;JX015385;JX015386;JX015387;JX015388;JX015389;JX015390;JX015391;JX015392;M92424;NG_016708;NM_001145337;NM_001145339;NM_001145340;NM_001278462;NM_002392;U28935;U33199;U33200;U33201;U33202;U33203;U39736;XM_005268872;XM_006719399;XM_006719400;Z12020 AAA60568;AAA75514;AAA75515;AAA75516;AAA75517;AAA75518;AAA82061;AAA82237;AAF42995;AAI48523;AAI52385;AAI52391;AAI53118;AAL13242;AAL13243;AAL13244;AAL13245;AAL13246;AAL13247;AAL40178;AAL40179;AAL40180;AAM78554;AAP35922;ABT17083;ABT17084;ABT17085;ABT17086;ACX31156;AFM80527;AFM80528;AFM80529;AFM80530;AFM80531;AFM80532;AFM80533;AFM80534;AFM80535;AFM80536;AFM80537;AFM80538;AFM80539;AFM80540;BAF83030;BAG35041;CAA78055;CAB64448;CAC07809;CAC07810;CAC07811;CAC07812;CAC22426;CAD23251;CAD23252;CAD36959;CAD36960;CAD36961;CAD36962;CAD57166;CAD57167;CAD57168;CAD79455;CAD79456;CAD79457;CAD79458;CAD79459;EAW97201;EAW97202;EAW97203;EAW97204;EAW97205;EAW97206;EAW97207;EAW97208;EAW97209;EAW97210;EAW97211;EAW97212;EAW97213;EAW97214;NP_001138809;NP_001138811;NP_001138812;NP_001265391;NP_002383;Q00987;XP_005268929;XP_006719462;XP_006719463 Hs.484551;Hs.733536 1643918;1656661;1682005;1689316;1744309;1748319;1748321;1769548;1791292;1791876;1796318;2155513;2185174;5014051;5014427;5120704 D8S2278;G66928;G66929;GDB:371587;GDB:451622;MDM2_1161;PMC100259P1;PMC129072P1;RH11003;RH44942;RH45597;RH45825;RH65828;RH93271;SGC38056;STS-H58373 ACTFS;HDMX;MGC5370;MGC71221;hdm2 E3 ubiquitin-protein ligase Mdm2;HDM2 transcript variant MYO-1;HDM2 transcript variant MYO-18;HDM2 transcript variant MYO-20;HDM2 transcript variant MYO-24;HDM2 transcript variant MYO-25;HDM2 transcript variant MYO-26;HDM2 transcript variant MYO-32;HDM2 transcript variant MYO-4;MDM2 oncogene, E3 ubiquitin protein ligase;MDM2 variant FB28;MDM2 variant FB30;Mdm2 p53 binding protein homolog;Mdm2, p53 E3 ubiquitin protein ligase homolog;Mdm2, transformed 3T3 cell double minute 2, p53 binding protein;OTTHUMP00000183488;OTTHUMP00000183489;OTTHUMP00000183490;OTTHUMP00000183492;OTTHUMP00000183494;OTTHUMP00000183495;OTTHUMP00000183496;OTTHUMP00000183497;OTTHUMP00000240280;OTTHUMP00000240285;OTTHUMP00000240290;double minute 2, human homolog of;double minute 2, human homolog of, p53-binding protein;oncoprotein Mdm2;ubiquitin-protein ligase E3 Mdm2 APPROVED protein-coding ENSG00000135679 HGNC:6973 01272 164785;614401 REVIEWED 1320392 MED21 mediator complex subunit 21 This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 12 12 12 p11.23 32321635 32328835 + 27175455 27183606 + 27022522 27030673 + 1580863;6480464 10024883;10198638;10882111;11278802;11441538;11591653;11834832;11867769;12037571;12101254;12477932;12584197;14636573;15175163;15249124;15489334;15635413;15710619;15989967;16344560;18231578;18654987;19096501;19322201;20133760;20211142;20520624;21139048;21729782;21890473;21906983;21963094;21987572;22479149;22505724;22939629;23000965;2320128;23275563;23322298;23602568;8598913;8609996;9121429;9159119;9305922;9315662;9443979;9710619;9734358;9872325 9412 F5GZQ1;F5H872;Q13503 ABBA01068042;AC092747;AK309064;AK311838;AMYH02026243;BC008380;CH471094;CR456999;DA420057;DB024509;HY075642;NM_001271811;NM_004264;NR_073463;NR_073464;U46837;U52960 AAA98511;AAB06944;AAH08380;ABZ92459;BAG34780;CAG33280;EAW96544;EAW96545;EAW96546;EAW96547;NP_001258740;NP_004255;Q13503 Hs.286145 1671560;1671912;1733610;5113433 D12S935;RH98906;STS-U46837;UniSTS:81128 SRB7;SURB7;hSrb7 OTTHUMP00000240653;OTTHUMP00000240654;RNA polymerase II complex component SRB7;RNA polymerase II holoenzyme component SRB7;RNAPII complex component SRB7;SRB7 suppressor of RNA polymerase B homolog;mediator of RNA polymerase II transcription subunit 21 APPROVED protein-coding HGNC:11473 09156 603800 REVIEWED 1344644 MED19 mediator complex subunit 19 MED19 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008] 11 11 11 q12.1 54827666 54836153 - 57471182 57479804 - 57703710 57712324 - 737633;6480464 12477932 12584197;14576168;14638676;15175163;15989967;16169070;18029348;18854154;18976975;19049968;20133760;20890603;21306606;21372827;21478038;21519921;21542455;21729782;21732059;21832049;21871180;21988832;22565189;23076562;23098456;23276457;23322298;23563140;23705783;24565852;9417904 219541 A0JLT2;J3KR33 ABBA01021475;AMYH02024844;AP000662;AY148462;BC009723;BC037223;CH471076;NM_153450;U92995;XM_005273821 A0JLT2;AAH09723;AAH37223;AAN16075;EAW73774;EAW73775;EAW73776;NP_703151;XP_005273878 Hs.43619 1682848;1685612 RH79721;RH80430 DT2P1G7;LCMR1 OTTHUMP00000235465;lung cancer metastasis-related protein 1;mediator of RNA polymerase II transcription subunit 19;mediator of RNA polymerase II transcription, subunit 19 homolog APPROVED protein-coding ENSG00000156603 HGNC:29600 17477 612385 PROVISIONAL 1317518 MED16 mediator complex subunit 16 ENCODES a protein that exhibits receptor activity; thyroid hormone receptor binding; thyroid hormone receptor coactivator activity; INVOLVED IN androgen receptor signaling pathway; intracellular steroid hormone receptor signaling pathway; positive regulation of receptor activity; FOUND IN mediator complex; membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 4-hydroxyphenyl retinamide 19 19 19 p13.3 793449 825585 - 867961 893218 - 867961 893218 - 1580863;6480464 10198638;10235266;10882111;11337467;11867769;12101254;12218053;12477932;14636573;14638676;14657022;15175163;15489334;15989967;16239144;17967894;18418385;19410544;19946888;20098423;20133760;20211142;20508642;21139048;21729782;21890473;21906983;21963094;22505724;22939629;23000965;23275444;23322298;23602568;24163370;8710870 10025 B9TWZ6;K7EKS6;K7EKX2;K7EKX6;Q9Y2X0;U3KQ43;U3KQB4 ABBA01002605;ABBA01002606;AC112706;AC212840;AF106934;AF121228;AL137732;AMYH02035126;AMYH02035127;AU098434;BC004554;BC007853;BC011841;BC017282;BI461485;BQ015734;CB050542;CH471139;EU392448;EU392449;EU392450;EU392451;EU392452;EU392453;EU392454;EU392455;EU392456;EU392457;EU392458;EU392459;EU392460;EU392461;EU392462;EU392463;EU392464;EU392465;EU392466;EU392467;EU392468;EU392469;EU392470;EU392471;EU392472;EU392473;EU392474;EU392475;EU392476;EU392477;EU392478;EU392479;EU392480;EU392481;EU392482;EU392484;EU392485;EU392487;EU392488;EU392489;EU392490;EU392496;NM_005481;XM_006722600 AAD30032;AAD31087;AAH04554;AAH07853;AAH11841;AAH17282;ABM84604;ABM86859;ACB88881;ACB88882;ACB88883;ACB88884;ACB88885;ACB88886;ACB88887;ACB88888;ACB88889;ACB88890;ACB88891;ACB88892;ACB88893;ACB88894;ACB88895;ACB88896;ACB88897;ACB88898;ACB88899;ACB88900;ACB88901;ACB88902;ACB88903;ACB88904;ACB88905;ACB88906;ACB88907;ACB88908;ACB88909;ACB88910;ACB88911;ACB88912;ACB88913;ACB88914;EAW69586;EAW69587;NP_005472;Q9Y2X0;XP_006722663 Hs.365207 1773927 RH78104 DRIP92;THRAP5;TRAP95 mediator of RNA polymerase II transcription subunit 16;thyroid hormone receptor-associated protein 5;thyroid hormone receptor-associated protein complex 95 kDa component;thyroid hormone receptor-associated protein, 95-kD subunit;vitamin D3 receptor-interacting protein complex 92 kDa component protein-coding ENSG00000175221 HGNC:17556 06816 604062 VALIDATED 1316826 MED15 mediator complex subunit 15 The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 22 22 22 q11.2 4352845 4432848 + 20861849 20941919 + 20507582 20587632 + 1358555;1580863;6480464;8554872 12497610 10235267;11024300;11414760;11834832;12167862;12477932;14657022;14691453;14702039;14983011;15175163;15318033;15455391;15461802;15489334;15989967;16169070;16189514;16239144;16713569;16799563;16904669;17135252;18029348;18418385;18568018;18854154;19946888;20025940;20098423;20133760;20508642;20534441;20720539;21139048;21729782;22916034;22939629;23000965;23275444;23322298;23602568;24374838;24816145;9225980 51586 B4DGD6;B4DM43;C9J1I1;C9JCQ3;C9JEM1;C9JGN2;C9JJ12;C9JLN7;C9JM58;C9JWK5;C9JZV5;F2Z2B7;F8WCS1;F8WDM6;F8WEJ4;G3V1P5;H7C308;Q96RN5 ABBA01015451;AC004033;AC005500;AC007050;AC007731;AF056191;AF328769;AK000003;AK074230;AK074268;AK090465;AK124276;AK124925;AK126208;AK294540;AK294734;AK297284;AK297789;AK315540;AL832151;AL832923;AMYH02038077;AW245653;BC003078;BC005027;BC007529;BC013985;BC017110;BX478424;CB156495;CB988805;CH471176;CR456537;DA182752;KF274544;KF274593;NM_001003891;NM_001293234;NM_001293235;NM_001293236;NM_001293237;NM_015889;U80745;XM_005261632;XM_006724261;XM_006724262;XM_006724263;XM_006724264 AAB91443;AAC12944;AAH03078;AAH07529;AAH13985;AAK58423;BAA92228;BAB85034;BAC03446;BAG54024;BAG54113;BAG57747;BAG59755;BAG60130;BAH11863;CAG30423;CAH10580;CAH10623;CAK54568;CAK54867;EAX02948;EAX02949;EAX02950;EAX02951;EAX02952;EAX02953;EAX02954;EAX02955;EAX02956;NP_001003891;NP_001280163;NP_001280164;NP_001280165;NP_001280166;NP_056973;Q96RN5;XP_005261689;XP_006724324;XP_006724325;XP_006724326;XP_006724327 Hs.517421 1649835;1682523;1734284;1743225;1784530;2109633;2148579;5112371 AF021108;D22S663;D22S934;GDB:305493;PCQAP_9742;RH104435;RH92306;SHGC-171544 ARC105;CAG7A;CTG7A;DKFZp686A2214;DKFZp762B1216;FLJ42282;FLJ42935;PCQAP;TIG-1;TIG1;TNRC7 CTG repeat protein 7a;OTTHUMP00000198544;OTTHUMP00000198545;OTTHUMP00000198546;OTTHUMP00000198567;PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein;PC2 glutamine/Q-rich-associated protein;PC2-glutamine-rich-associated protein;TPA inducible gene-1;TPA inducible protein;TPA-inducible gene 1 protein;activator-recruited cofactor 105 kDa component;activator-recruited cofactor, 105-kD;mediator of RNA polymerase II transcription subunit 15;positive cofactor 2 glutamine/Q-rich-associated protein;positive cofactor 2, glutamine/Q-rich-associated protein;trinucleotide repeat containing 7;trinucleotide repeat-containing gene 7 protein APPROVED protein-coding ENSG00000099917 HGNC:14248 12117 607372 REVIEWED 1606323 MED20 mediator complex subunit 20 MED20 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009] 6 6 6 p21.1 43425870 43441669 - 41873092 41888877 - 41905354 41921139 - 6480464;8554872 10882111;11867769;12477932;12584197;12838346;14574404;14576168;14636573;14702039;15175163;15489334;15989967;18976975;19322201;20133760;20139978;20508642;21139048;21729782;21988832;23263863;23275444;23322298;23602568;24250222;24816145;9933582 9477 A6PVP4;B3KUJ9;B4DE08;B7ZBQ1;B7ZBQ3;Q9H944 ABBA01050745;AF097725;AF116602;AJ420544;AK023092;AK097385;AK293412;AK300573;AK307070;AL050196;AL160163;AMYH02013614;BC012618;BC015189;BC019866;BC032552;BC033498;BC040950;BC063509;BU597139;CH471081;NM_004275 AAD16169;AAF71027;AAH12618;AAH19866;AAH32552;AAH40950;ABZ92460;BAB14399;BAG53461;BAG56919;BAG62275;CAB43314;EAX04067;EAX04068;NP_004266;Q9H944 Hs.278434 2164664;5014051;5015619;5037552 A002F15;D11S3114;D8S2278;D8S2279 DKFZp586D2223;MGC29869;PRO0213;TRFP;hTRFP OTTHUMP00000016389;OTTHUMP00000196106;OTTHUMP00000205788;OTTHUMP00000205789;TRF-proximal protein homolog;Trf (TATA binding protein-related factor)-proximal homolog;mediator complex subunit 20mediator complex subunit 20mediator complex subunit 20Trf (TATA binding protein-related factor)-proximal homolog;mediator of RNA polymerase II transcription subunit 20 APPROVED protein-coding ENSG00000124641 HGNC:16840 15638 612915 VALIDATED 1352604 MED26 mediator complex subunit 26 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008] 19 19 19 p13.11 16587557 16640853 - 16685718 16739015 - 16574907 16628204 - 1580863;6480464 10235267;10811649;11834832;12050112;12477932;14638676;14657022;14702039;14759369;15175163;15989967;16239144;16799563;17081983;18418385;18976975;19049968;20098423;20133760;20508642;21729782;23275444;23563140;24250222;9989412 9441 M0QXW8;M0R064;M0R2P1;M0R2Y4;O95402 ABBA01051151;ABBA01051152;ABBA01051153;AC008764;AC024075;AF104253;AK128435;AK313778;AMYH02035685;AMYH02035686;BC047040;BC063628;BC105951;BC105952;BC105953;BC110430;BC127214;BC127215;BC143047;CH471106;NG_031959;NM_004831 AAD12722;AAI10431;AAI27216;BAG36516;EAW84554;NP_004822;O95402 Hs.715040 1696896;2217200 CRSP7_3508;RH101914 ARC70;CRSP7;CRSP70 CRSP complex subunit 7;activator-recruited cofactor 70 kDa component;cofactor required for Sp1 transcriptional activation subunit 7;cofactor required for Sp1 transcriptional activation, subunit 7 (70kD);cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa;mediator of RNA polymerase II transcription subunit 26;transcriptional coactivator CRSP70 APPROVED protein-coding ENSG00000105085 HGNC:2376 05437 605043 VALIDATED 1606332 MED22 mediator complex subunit 22 This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013] 9 9 9 q34.2 106758235 106765458 - 136207751 136215011 - 133340901 133348156 - 6480464 11891058;12477932;12584197;14638676;14759258;15175163;15489334;15989967;16169070;17207965;19913121;20098423;20133760;20508642;20628086;21890473;22331469;22939629;23000965;23267103;23275444;23322298;23602568;23667531;8499913;8586415;9196076;9740673 6837 E7EN96;E9PGW7;Q15528;Q5T8T7;Q5T8T8 ABBA01032461;AC002107;AJ224358;AJ224359;AJ224360;AJ224639;AK124518;AK126069;AL158826;AL772161;AMYH02021826;AMYH02021827;BC024225;BC040111;BI756582;CH471090;GD160955;HY154869;NM_133640;NM_181491;X85178;Y17213 AAH24225;AAH40111;ADQ33033;BAG54045;BAG54286;CAA11915;CAA11916;CAA11917;CAA12052;CAA12053;CAA59462;CAA76691;CAI12827;CAI12829;CAI12830;CAI12831;EAW88056;EAW88057;EAW88058;EAW88059;EAW88060;NP_598395;NP_852468;Q15528 Hs.78354 1679642;1852786;1854033;2109913;2186863;5015747;5015961;5022322;5119005 D11S2560;D11S4359;D15S1477;D9S1310;D9S1772;RH66808;RH91137;RP_L7A;SURF5_8662 MED24;MGC48682;SURF5;surf-5 OTTHUMP00000022480;OTTHUMP00000022481;OTTHUMP00000022482;OTTHUMP00000022483;OTTHUMP00000215369;OTTHUMP00000215370;OTTHUMP00000215371;OTTHUMP00000215372;OTTHUMP00000215373;mediator of RNA polymerase II transcription subunit 22;surfeit 5;surfeit locus protein 5 APPROVED protein-coding ENSG00000148297 HGNC:11477 01713 185641 REVIEWED 1354293 MED28 mediator complex subunit 28 ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN negative regulation of smooth muscle cell differentiation (inferred); regulation of transcription, DNA-templated (inferred); stem cell maintenance (inferred); FOUND IN cortical actin cytoskeleton (inferred); mediator complex (inferred); membrane (inferred); INTERACTS WITH (S)-nicotine; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2-methylcholine 4 4 4 p16 18081269 18091156 + 17616273 17626160 + 17614650 17624537 + 6480464 10656681;11591653;11779215;12477932;12584197;14638676;15175163;15467741;15489334;15989967;16024617;16189514;16899217;16964398;17568184;17848560;18029348;18187620;18976975;19322201;20133760;20508642;20584319;21729782;22053931;22495818;22939629;23322298;23455924;23602568;23950709;24250222 80306 H0YAA8;Q9H204 ABBA01032613;ABBA01032614;AC006160;AF317678;AF317679;AF317680;AF318059;AF358829;AK313928;AMYH02008823;BC011936;CH471069;NM_025205 AAH11936;AAK11563;AAK32724;AAL26906;ABM84317;ABM87712;EAW92781;EAW92782;NP_079481;Q9H204 Hs.731966 2178970 STS-H97895 1500003D12Rik;DKFZp434N185;EG1 OTTHUMP00000217938;OTTHUMP00000217939;endothelial-derived gene 1;endothelial-derived protein 1;magicin;mediator of RNA polymerase II transcription subunit 28;mediator of RNA polymerase II transcription, subunit 28 homolog;mediator of rna polymerase ii transcription, subunit 28 homolog (yeast);merlin and Grb2-interacting cytoskeletal protein;tumor angiogenesis marker EG-1 protein-coding HGNC:24628 14381 610311 PROVISIONAL 7240920 MED28P1 mediator complex subunit 28 pseudogene 1 10 10 10 q22.1 64026762 64027293 + 70750893 70751424 + 68991137 68991668 + 100420207 ABBA01019596;AL359844;AMYH02023266;NG_025514 pseudo HGNC:45078 INFERRED 7240881 MED28P3 mediator complex subunit 28 pseudogene 3 2 2 2 q32.1 180825158 180825690 + 187229325 187229857 + 186364598 186365130 + 100131051 ABBA01062335;AC017071;AMYH02005405;NG_021593 pseudo HGNC:45080 INFERRED 1322408 MED17 mediator complex subunit 17 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008] 11 11 11 q14 90808857 90837937 + 93517405 93546496 + 93784239 93813330 + 1580863;6480464;7240710;8554872;8699517 10198638;10235266;10235267;10882111;11504724;11834832;11867769;12037571;12101254;12149480;12154023;12218053;12477932;12509459;12584197;14576168;14636573;14638676;14657022;14702039;15175163;15489334;15989967;16109376;16204234;16239144;16344560;16799563;17132730;17643375;17967894;18418385;18562274;18976975;19946888;20098423;20133760;20508642;20950787;21182203;21326907;21729782;21890473;21906983;21963094;21987572;22668559;22797925;22939629;23275444;23322298;23602568;24816145;8710870;9989412 9440 E9PJZ4;E9PKQ4;E9PM72;Q9NVC6 ABBA01040039;ABBA01040040;ABBA01040041;AF104254;AF105421;AF117657;AK001674;AK022156;AK023209;AK299702;AMYH02025366;AMYH02025367;AP001894;BC021101;CH471065;DA506467;DA921529;NG_028028;NM_004268;XR_247218 AAD12723;AAD22031;AAD30856;AAH21101;BAA91827;BAB13973;BAG51169;BAG61603;EAW66920;EAW66921;NP_004259;Q9NVC6 Hs.444931 1643692;1661517;1697678;2139422;2169072;2175526;2217198;5021872;5022651;5093440 A009O47;CRSP6_3507;D11S2921;G32719;RH102355;RH16177;SHGC-34263;SHGC-52959;WI-15663;sY3084 ARC77;CRSP6;CRSP77;DRIP80;FLJ10812;TRAP80 CRSP complex subunit 6;OTTHUMP00000236036;activator-recruited cofactor 77 kDa component;cofactor required for Sp1 transcriptional activation subunit 6;cofactor required for Sp1 transcriptional activation, subunit 6 (77kD);cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa;mediator of RNA polymerase II transcription subunit 17;thyroid hormone receptor-associated protein complex 80 kDa component;thyroid hormone receptor-associated protein, 80-KD subunit;transcriptional coactivator CRSP77;vitamin D receptor interacting protein 80-kD;vitamin D3 receptor-interacting protein complex 80 kDa component APPROVED protein-coding HGNC:2375 04816 603810;613668 REVIEWED 7240967 MED28P4 mediator complex subunit 28 pseudogene 4 X X X p11.3 50003158 50003686 - 45811237 45811765 - 45951802 45952330 - 100130359 ABBA01052152;AL031585;AMYH02039254;NG_022594 pseudo HGNC:45081 INFERRED 7240880 MED28P7 mediator complex subunit 28 pseudogene 7 20 20 20 p11.1 25724111 25724637 - 25650496 25651022 - 25669860 25670386 - 729327 ABBA01048714;AL031673;AMYH02036854;NG_021979 pseudo HGNC:45084 INFERRED 7240966 MED28P8 mediator complex subunit 28 pseudogene 8 1 1 82022802 82024205 - 81557117 81558520 - 101060144 ABBA01074355;AL138799;AMYH02001353 pseudo HGNC:45085 MODEL 1349942 MED27 mediator complex subunit 27 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011] 9 9 9 q34.13 105275611 105497127 - 134735497 134955274 - 131860110 132079887 - 6480464;8554872 1020353;10882111;12477932;12584197;14638676;14702039;15164053;15175163;15342556;15489334;15989967;18029348;18562274;18976975;20133760;20508642;21139048;21729782;21890473;21906983;21988832;22505724;22939629;23000965;23275444;23322298;23602568;24816145;8895530;9989412 9442 Q6P2C8 ABBA01012105;ABBA01032497;ABBA01032498;AF104252;AF230382;AI033804;AK022289;AK124232;AK298436;AK316345;AL160271;AL513102;AL603649;AL691506;AL713892;AMYH02021800;AMYH02021801;AMYH02021802;BC002878;BC064608;BC070331;BP255072;BU069864;CD388680;CH471090;DQ099387;HG518166;NM_001253881;NM_001253882;NM_004269;XM_005272236;Z36848 AAD12721;AAF37290;AAH02878;AAH64608;AAZ13763;ABZ92276;BAG60657;BAH14716;CDI06889;EAW87989;EAW87990;EAW87991;EAW87992;EAW87993;NP_001240810;NP_001240811;NP_004260;Q6P2C8;XP_005272293 Hs.374262 1701594;1757983;1758649;1786904;2139595;2145256;2153694;2217202;5016478;5020948;5037552 A007C13;CRSP8_3509;D8S2279;FB3E1;G28634;G35510;GDB:434012;RH104433;SHGC-106947;SHGC-147034;SHGC-149023 CRAP34;CRSP34;CRSP8;FLJ42238;MGC11274;TRAP37 CRSP complex subunit 8;OTTHUMP00000022426;OTTHUMP00000022427;cofactor required for Sp1 transcriptional activation subunit 8;cofactor required for Sp1 transcriptional activation, subunit 8 (34kD);cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa;mediator of RNA polymerase II transcription subunit 27;p37 TRAP/SMCC/PC2 subunit;transcriptional coactivator CRSP34 APPROVED protein-coding ENSG00000160563 HGNC:2377 05438 605044 REVIEWED 1319681 MED30 mediator complex subunit 30 The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010] 8 8 8 q24.11 114721685 114741221 + 118532532 118552510 + 117520713 117540262 + 1580863;6480464 10198638;10235266;10235267;11591653;11867769;11909976;12136098;12218053;12477932;12584197;14638676;15175163;15489334;15989967;18691967;20133760;20211142;20493979;20508642;21139048;21729782;21832049;21890473;22446961;23322298;23602568 90390 Q96HR3 AA812233;ABBA01037798;AC024329;AC087361;AJ325138;AMYH02018662;AW160991;AY083305;BC008226;CH471060;FM179284;NM_001282986;NM_080651 AAH08226;AAL89787;ABM82444;ABM85634;CAQ76893;EAW91970;EAW91971;NP_001269915;NP_542382;Q96HR3 Hs.492612 1768307 RH48821 MED30S;MGC9890;THRAP6;TRAP25 OTTHUMP00000227900;OTTHUMP00000227901;TRAP/Mediator complex component TRAP25;mediator of RNA polymerase II transcription subunit 30;putative mediator of RNA polymerase II transcription subunit 30;thyroid hormone receptor associated protein 6;thyroid hormone receptor-associated protein 6;thyroid hormone receptor-associated protein complex 25 kDa component APPROVED protein-coding ENSG00000164758 HGNC:23032 11631 610237 VALIDATED 1348876 MED24 mediator complex subunit 24 This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21.1 34835411 34870944 - 38175350 38210889 - 40019097 40054636 - 1580863;6480464;8554872 10024883;10198638;10235266;10235267;10377381;10406464;10882111;11117530;11454195;11834832;11867769;12101254;12167862;12189208;12218053;12477932;14638676;14702039;15175163;15302935;15489334;15896744;15989967;16109376;16204234;16239144;16344560;16799563;17081983;17643375;18418385;19762545;20133760;20139978;20467438;21738480;21832049;21890473;21900206;21906983;21963094;22037903;22939629;23275444;23322298;23502783;23602568;24816145;8590280;8710870;9637681;9653119;9989412 9862 B4DDR8;B9TX62;E9PFL1;F5GY88;F5H0M2;F5H2D6;F5H3E6;F5H5K2;H0YEG1;J3KSL1;J3KSU0;J3KTL3;J3QLC0;J3QLC2;J3QLF8;J3QLV7;J3QRH9;O75448 ABBA01031847;ABBA01031848;ABBA01031849;ABBA01031850;ABBA01031851;AC090844;AC102799;AF055995;AF277379;AK022508;AK291040;AK293309;AK299864;AK300992;AK303502;AK303745;AMYH02033391;BC011375;CH471152;CQ834868;D50920;DB144359;EU392533;EU392534;EU392535;EU392536;EU392537;EU392538;EU392539;EU392540;EU392541;EU392542;EU392543;EU392544;EU392545;EU392546;EU392547;EU392548;EU392549;EU392550;EU392551;EU392552;EU392553;NM_001079518;NM_001267797;NM_014815;NR_052017;XM_005257870;XM_005257871;XM_005257872;XM_005257873;XM_005257874;XM_006722203;XM_006722204;XM_006722205;XM_006722206;XM_006722207;XR_429934 AAC39855;AAF78764;AAH11375;ABM82008;ABM85190;ACB88915;ACB88916;ACB88917;ACB88918;ACB88919;ACB88920;ACB88921;ACB88922;ACB88923;ACB88924;ACB88925;ACB88926;ACB88927;ACB88928;ACB88929;BAA09479;BAF83729;BAG51081;BAG56829;BAG61718;BAG62611;BAG64535;BAG64717;CAH05649;EAW60629;EAW60630;EAW60631;NP_001072986;NP_001254726;NP_055630;O75448;XP_005257927;XP_005257928;XP_005257929;XP_005257930;XP_005257931;XP_006722266;XP_006722267;XP_006722268;XP_006722269;XP_006722270 Hs.462983 1656569;1733348;1762299;1764041;1779408;2135048;2181143 D17S1179;L17843;RH25353;RH66540;SHGC-146145;SHGC-147700;SHGC-153395 ARC100;CRSP100;CRSP4;DRIP100;KIAA0130;MGC8748;THRAP4;TRAP100;hTRAP100 CRSP complex subunit 4;OTTHUMP00000164458;OTTHUMP00000164459;OTTHUMP00000164460;OTTHUMP00000164462;activator-recruited cofactor 100 kDa component;cofactor required for Sp1 transcriptional activation subunit 4;cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa;mediator of RNA polymerase II transcription subunit 24;mediator of RNA polymerase II transcription, subunit 24 homolog;thyroid hormone receptor associated protein 4;thyroid hormone receptor-associated protein 4;thyroid hormone receptor-associated protein complex 100 kDa component;vitamin D3 receptor-interacting protein complex 100 kDa component;vitamin D3 receptor-interacting protein complex component DRIP100 APPROVED protein-coding ENSG00000008838 HGNC:22963 06107 607000 REVIEWED 1347126 MED25 mediator complex subunit 25 This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010] 19 19 19 q13.3 47190990 47209687 + 50321319 50340237 + 49818279 49836980 + 6480464;7240710;8554872;8699517 10235267;11112660;11230166;11834832;12163014;12477932;14638676;14657022;14702039;14983011;15175163;15989967;16239144;16799563;17135252;17641689;18418385;19290556;20089804;20133760;20301462;20301532;20508642;20974256;21110951;21135126;21378963;21378965;21427722;21729782;21785987;21890473;21906983;21963094;21987572;22447446;22505724;22952853;23000965;23022380;23275444;23563140;23720494;23864652;24250222;24960263;9110174 81857 M0QYR4;M0QZQ2;Q71SY5 ABBA01032908;ABBA01032909;AC006942;AC018766;AF261072;AF283769;AF447873;AJ617479;AK055844;AK289460;AK298897;AK307330;AL136746;AMYH02036332;AY533507;BC021543;BC024312;BC065297;BG770032;BI520216;CH471177;DC410997;EU392499;EU392500;EU392501;EU392502;EU392503;EU392504;EU392505;EU392506;EU392507;EU392508;EU392509;EU392510;EU392511;EU392512;EU392513;EU392514;EU392515;EU392516;EU392517;EU392518;EU392519;NG_017091;NM_030973 AAD15565;AAG15589;AAH24312;AAH65297;AAM20739;AAQ04648;AAS45401;ACB88861;ACB88862;ACB88863;ACB88864;ACB88865;ACB88866;ACB88867;ACB88868;ACB88869;ACB88870;ACB88871;ACB88872;ACB88873;ACB88874;ACB88875;ACB88876;ACB88877;ACB88878;ACB88879;ACB88880;ACE86988;ACE87677;BAF82149;BAG51583;BAG61008;CAB66680;CAE84581;EAW52544;EAW52545;EAW52546;EAW52547;EAW52548;EAW52549;EAW52550;EAW52551;NP_112235;Q71SY5 Hs.656639;Hs.745568 1335307;1337083;1789466;5024761 D19S902;D19S907;G68144;RH36905 ACID1;ARC92;CMT2B2;DKFZp434K0512;MGC70671;P78;PTOV2;TCBAP0758 ARC/mediator transcriptional coactivator subunit;activator interaction domain-containing protein 1;activator-recruited cofactor 92 kDa component;mediator of RNA polymerase II transcription subunit 25;mediator of RNA polymerase II transcription, subunit 25 homolog;prostate-derived protein 78 kDa APPROVED protein-coding ENSG00000104973 HGNC:28845 14380 605589;610197 REVIEWED 1354139 MED4 mediator complex subunit 4 This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 13 13 13 q14.2 29704843 29723982 - 48649864 48669277 - 48075728 48095141 - 6480464 10198638;10235266;10235267;10882111;11042152;11867769;12218053;12421765;12477932;12584197;14638676;14702039;15057823;15175163;15231748;15342556;15489334;15680972;15690163;15989967;16189514;16239144;17438371;17620012;17643375;18029348;18187620;18250152;18685082;18976975;19322201;19411183;19911042;19946888;20133760;20211142;20508642;21139048;21182203;21505449;21729782;21890473;21906983;22505724;22939629;23000965;23275444;23322298;23602568;24250222;24332808;24722188;24816145;8125298 29079 Q5T911;Q9NPJ6 ABBA01051002;AF161475;AF230381;AF300618;AI613470;AK001934;AK222713;AK223017;AK301835;AL158196;AMYH02027998;BC005189;BP309440;CH471075;CR457276;CR541830;HG518167;NM_001270629;NM_014166 AAF29090;AAF37289;AAG22542;AAH05189;ABM84002;ABM87332;BAA91987;BAD96433;BAD96737;BAG63279;CAG33557;CAG46629;CDI06890;EAX08783;EAX08784;EAX08785;EAX08786;NP_001257558;NP_054885;Q9NPJ6 Hs.181112;Hs.741275 1647278;1664259;1664261;1689634;1780178;1854294 A005N38;D13S917;G20362;SHGC-154547;SHGC-16168;SHGC-24298 ARC36;DRIP36;FLJ10956;HSPC126;RP11-90M2.2;TRAP36;VDRIP OTTHUMP00000018390;OTTHUMP00000018391;OTTHUMP00000018392;TRAP/SMCC/PC2 subunit p36;TRAP/SMCC/PC2 subunit p36 subunit;activator-recruited cofactor 36 kDa component;mediator of RNA polymerase II transcription subunit 4;mediator of RNA polymerase II transcription, subunit 4 homolog;mediator of rna polymerase ii transcription, subunit 4 homolog (yeast);mediator, 34-kD subunit, homolog;p36 TRAP/SMCC/PC2 subunit;vitamin D receptor interacting protein;vitamin D receptor-interacting protein, 36-kD;vitamin D3 receptor-interacting protein complex 36 kDa component APPROVED protein-coding ENSG00000136146 HGNC:17903 16145 605718 REVIEWED 6481432 MED4-AS1 MED4 antisense RNA 1 13 13 48651273 48654129 + 48077137 48079993 + 11329013 100873965 ABBA01051002;AL158196;AMYH02027998;BG189114;BG460082;HG505629;NR_046511 Hs.616241 MED4-AS;RP11-90M2.4 APPROVED ncrna ENSG00000229111 HGNC:39213 VALIDATED 7241615 MED6P1 mediator complex subunit 6 pseudogene 1 10 10 10 q23.31 83554370 83554875 - 89807908 89808413 - 88048151 88048656 - 100128990 ABBA01021958;AC063965;AL356142;AMYH02023500;NG_022151 pseudo HGNC:45164 INFERRED 1351639 MED29 mediator complex subunit 29 MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009] 19 19 19 q13.2 36683645 36692896 + 39881893 39891203 + 39391323 39400563 + 6480464 12477932;14576168;14638676;14702039;15175163;15555573;15989967;17332321;17643375;20133760;20508642;21729782;21890473;21906983;22939629;23275444;23322298;23602568 55588 B4DUA7;M0R0A0;M0R0U2;M0R3F3;Q9NX70 ABBA01040729;AC005239;AC011500;AC104106;AK000411;AK026527;AK090877;AK092909;AK124629;AK294667;AK297772;AK298014;AK300563;AK316010;AL137304;AMYH02036092;AMYH02036093;AY729650;BC019015;CH471126;NM_017592 AAH19015;AAU43732;BAA91147;BAG57835;BAG60118;BAG60318;BAG62269;BAH14381;CAB70687;EAW56884;NP_060062;Q9NX70 Hs.611541 5015961;5022200;5022578;5037552 D15S1477;D1S1423;D8S2279;L18426 DKFZp434H247;IXL intersex-like protein;mediator of RNA polymerase II transcription subunit 29 APPROVED protein-coding ENSG00000063322 HGNC:23074 13748 612914 PROVISIONAL 1321116 MED6 mediator complex subunit 6 ENCODES a protein that exhibits transcription coactivator activity; transcription factor binding; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; FOUND IN mediator complex; membrane; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; bisphenol A 14 14 14 q24.2 51114912 51131341 - 71050306 71067401 - 70583221 70600690 - 1580863;6480464 10024883;10198638;10235266;10235267;10508479;10882111;10993082;11416138;11834832;11867769;12037571;12167862;12477932;12584197;14576168;14638676;14657022;14983011;15175163;15489334;15808511;15989967;16204234;16239144;16344560;16799563;17641689;18187620;18691967;18854154;18976975;19946888;20133760;20508642;21139048;21729782;21890473;21906983;21963094;22479149;22668559;22939629;23322298;23563140;23602568;24816145;24825905;8125298;9234719;9671713;9734358 10001 G3V4A5;O75586 ABBA01030812;AF074723;AF155104;AK222587;AK223346;AK290647;AK300417;AK300460;AK304361;AL357153;AMYH02029452;BC004106;BM152825;BM802752;BM999935;BT006831;CH471061;CR541697;DA869309;HG506344;HY064772;NM_001284209;NM_001284210;NM_001284211;NM_005466;U78082 AAB84363;AAC26869;AAD42870;AAH04106;AAP35477;BAD96307;BAD97066;BAF83336;BAG62146;BAG62179;BAG65202;CAG46498;EAW81038;EAW81039;EAW81040;EAW81041;EAW81042;NP_001271138;NP_001271139;NP_001271140;NP_005457;O75586 Hs.497353 1719151;2175415;2191373;5015619 D11S3114;D14S625;MARC_17915-17916:1025020646:1;RH123293 ARC33;CTD-2540L5.5;NY-REN-28;hMed6 OTTHUMP00000245583;OTTHUMP00000245584;OTTHUMP00000245585;OTTHUMP00000245831;activator-recruited cofactor 33 kDa component;mediator of RNA polymerase II transcription subunit 6;mediator of RNA polymerase II transcription, subunit 6 homolog;mediator of rna polymerase ii transcription, subunit 6 homolog (yeast);renal carcinoma antigen NY-REN-28 protein-coding ENSG00000133997 HGNC:19970 04284 602984 VALIDATED 1343042 MED31 mediator complex subunit 31 ENCODES a protein that exhibits protein complex binding (inferred); RNA polymerase II transcription cofactor activity (inferred); INVOLVED IN gene expression (inferred); limb development (inferred); negative regulation of fibroblast proliferation (inferred); FOUND IN mediator complex (inferred); nucleoplasm (inferred); INTERACTS WITH carbamazepine; diclofenac; formaldehyde 17 17 17 p13.1 6567689 6576019 - 6546633 6555191 - 6643313 6651799 - 737633;1580863;6480464 12477932 10024883;10198638;10810093;11591653;12149480;12584197;14576168;14638676;14702039;15175163;15383276;15489334;15989967;16169070;18976975;20133760;20211142;20508642;21729782;21900206;23322298;23602568;24816145 51003 I3L0P8;I3L2J1;Q9Y3C7 ABBA01054836;AC004706;AF151883;AK094033;AK130946;AK311875;AMYH02032876;BC012539;CH471108;NM_016060;XM_005256671 AAD34120;AAH12539;ADZ15770;BAG34816;EAW90301;NP_057144;Q9Y3C7;XP_005256728 Hs.567493 1675868;1734416;2107733;2133445;2166253;2189517;5014051;5022200;5037552 D17S1392E;D8S2278;D8S2279;G73120;L18426;RH47146;RH91775;STS-N30572;TXNL5__5171 3110004H13Rik;CGI-125;FLJ27436;FLJ36714;Soh1;hSOH1 OTTHUMP00000128225;mediator complex subunit SOH1;mediator of RNA polymerase II transcription subunit 31;mediator of RNA polymerase II transcription, subunit 31 homolog;mediator of rna polymerase ii transcription, subunit 31 homolog (yeast) protein-coding ENSG00000108590 HGNC:24260 14382 VALIDATED 1342976 MEF2AP1 myocyte enhancer factor 2A pseudogene 1 1 1 1 q24-q25 152524988 152525847 - 179416723 179417575 - 179447588 179448440 - 8697817 4206 ABBA01027813;AL451075;AMYH02002233;NG_003072;NG_033075;U44888 1774132;2190751 SHGC-75886;UniSTS:265599 MEF2AP APPROVED pseudo HGNC:6994 INFERRED 1316995 MED23 mediator complex subunit 23 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012] 6 6 6 q22.33-q24.1 132641744 132696002 - 131895106 131949379 - 131573966 131628239 - 1580863;6480464;8699517;7240710;8554872 10235266;10235267;10353252;10574462;10823961;10993082;11076863;11230166;11416138;11834832;11867769;11934987;12089346;12242338;12421765;12477932;12543799;12708845;14574404;14638676;14657022;14759369;15025473;15175163;15489336;15572696;15893730;15989967;16147992;16204234;16239144;16381901;16799563;16964286;17438371;18418385;18660489;18691967;19322201;19913121;20098423;20133760;20508642;20628086;20720539;21139048;21729782;21868677;21890473;21906983;22505724;22797925;22939629;22988093;23022380;23275444;23322298;23340209;23602568;24816145;9989412 9439 Q05DL5;Q5JWT2;Q9ULK4 AB033042;ABBA01025889;ABBA01025890;ABBA01025891;AF104255;AF105332;AF135022;AI249380;AJ420587;AK304711;AK315030;AL121575;AL136776;AMYH02014494;AW295188;BC007088;BC060759;CH471051;DB453121;EU392520;EU392521;EU392522;EU392523;EU392526;EU392527;EU392528;EU392529;EU392530;EU392531;EU392532;KF458294;NG_031860;NM_001270521;NM_001270522;NM_004830;NM_015979;XM_005267223;XM_006715612 AAD12724;AAD30202;AAD31729;AAH07088;AAH60759;ACB88848;ACB88849;ACB88850;ACB88851;ACB88854;ACB88855;ACB88856;ACB88857;ACB88858;ACB88859;ACB88860;ACE86877;ACE87565;BAA86530;BAG65476;CAB66710;CAL38449;EAW48049;EAW48050;EAW48051;EAW48052;NP_001257450;NP_001257451;NP_004821;NP_057063;Q9ULK4;XP_005267280;XP_006715675 Hs.29679 1668724;1674328;1742075;1742431;1847479;1852440;2136370;2140260;2173279;5491952 CRSP3-1;GDB:190876;GDB:196989;RH46810;RH66704;SGC38314;SHGC-16174;SHGC-34762;STS-M14502;STS-N54839 ARC130;CRSP130;CRSP133;CRSP3;DKFZp434H0117;DRIP130;MRT18;SUR-2;SUR2 130 kDa transcriptional co-activator;133 kDa transcriptional co-activator;OTTHUMP00000017204;OTTHUMP00000017205;OTTHUMP00000017206;OTTHUMP00000017207;OTTHUMP00000017208;activator-recruited cofactor 130 kDa component;cofactor required for Sp1 transcriptional activation subunit 3;mediator of RNA polymerase II transcription subunit 23;vitamin D3 receptor interacting protein APPROVED protein-coding ENSG00000112282 HGNC:2372 05436 605042;614249 REVIEWED 1605918 MEDAG mesenteric estrogen-dependent adipogenesis INVOLVED IN positive regulation of fat cell differentiation (ortholog); FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene 13 13 13 q12.3 12546863 12566248 + 31480312 31499709 + 30906175 30925572 + 6480464 12477932;14702039;15057823;15489334;17207965;22510272 84935 H0Y831;Q5VYS4 AB055407;ABBA01010119;AK027740;AK055635;AL353680;AMYH02027802;BC040165;BC101624;BC101626;CH471075;NM_032849 AAH40165;AAI01625;AAI01627;ADQ32958;BAB70975;BAC53805;EAX08473;EAX08474;NP_116238;Q5VYS4 Hs.147880;Hs.708377 1341943 D13S1229 AWMS3;C13orf33;FLJ14834;MEDA-4;MEDA4;MGC126673;MGC126675;hAWMS3 OTTHUMP00000018205;OTTHUMP00000018206;activated in W/Wv mouse stomach 3 homolog;hypothetical protein LOC84935;mesenteric estrogen-dependent adipogenesis protein;mesenteric estrogen-dependent adipose 4;uncharacterized protein C13orf33 APPROVED protein-coding ENSG00000102802 HGNC:25926 07872 VALIDATED 1349775 MED9 mediator complex subunit 9 The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18319685 18335921 + 17380300 17396534 + 17476986 17493220 + 737633;1580863;6480464 12477932 11997338;14638676;14702039;15175163;20098423;20133760;21729782;21832049;21890473;22939629;23322298;23602568;24250222 55090 J3KTK5;Q9NWA0 ABBA01009759;AC073621;AK001055;AMYH02033089;BC000647;BC010906;BC104988;BC112029;CH471196;NM_018019 AAI04989;AAI12030;BAA91483;EAW55706;EAW55707;NP_060489;Q9NWA0 Hs.244595 1680361;1700142;2168258;2217598 MED25_3599;RH103684;RH25975;SHGC-31700 FLJ10193;MED25;MGC138234 OTTHUMP00000065542;mediator of RNA polymerase II transcription subunit 9;mediator of RNA polymerase II transcription, subunit 9 homolog;mediator of rna polymerase ii transcription, subunit 9 homolog (yeast);mediator subunit 25 APPROVED protein-coding ENSG00000141026 HGNC:25487 14383 609878 REVIEWED 1321085 MED7 mediator complex subunit 7 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q33.3 152591982 152596452 - 156565451 156569921 - 157138440 157142910 - 1580863;6480464 10235266;10235267;10353252;10377381;10882111;11834832;11867769;12101254;12477932;12584197;14638676;14657022;15175163;15489334;15989967;16189514;16204234;16239144;16344560;17353931;17709345;18187620;18391015;18854154;18976975;19471022;20211142;21729782;21890473;22939629;23275444;23563140;23602568;9420330;9671713;9989412 9443 E5RIE8;O43513;Q6IAZ5 ABBA01044273;AC010609;AF031383;AF104251;AK308393;AMYH02012547;AV711090;BC005250;BC006968;BQ011916;BQ130907;BT007368;CH471062;CR457009;CR541696;NM_001100816;NM_004270 AAC52115;AAD12720;AAP36032;CAG33290;CAG46497;EAW61610;EAW61611;NP_001094286;NP_004261;O43513 Hs.279902;Hs.744244 1671668;2118345;2191431;2217204;5094940 A006U21;CRSP9;CRSP9_3510;MARC_21827-21828:1025099615:1;NIB574 ARC34;CRSP33;CRSP9;MGC12284;hMED7 CRSP complex subunit 9;OTTHUMP00000160735;RNA polymerase transcriptional regulation mediator subunit 7 homolog;activator-recruited cofactor 34 kDa component;cofactor required for Sp1 transcriptional activation subunit 9;cofactor required for Sp1 transcriptional activation, subunit 9 (33kD);cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa;mediator of RNA polymerase II transcription subunit 7;transcriptional coactivator CRSP33 APPROVED protein-coding ENSG00000155868 HGNC:2378 05439 605045 REVIEWED 1313646 MED8 mediator complex subunit 8 This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] 1 1 1 p34.2 42131740 42137635 - 43849579 43855483 - 43383908 43389812 - 1580863;6480464 10235267;11572939;11752456;12149480;12477932;12584197;14576168;14638676;15175163;15489334;15989967;16169070;16239144;16712791;16973571;18976975;19471022;20133760;20194623;20427562;20508642;21209843;21512757;21693764;21729782;21832049;22939629;23275444;23322298;23602568;9671713 112950 Q96G25 ABBA01050956;AF521562;AL139289;AMYH02000898;AV684532;BC010019;BC010543;BF196855;BG620658;BI488866;CB161514;CB162354;CH471059;NM_001001653;NM_052877;NM_201542 AAH10019;AAH10543;AAM76709;ABM82714;ABM87828;EAX07099;NP_001001653;NP_443109;NP_963836;Q96G25 Hs.301756 2171097;2183218 D1S1808E;RH15983 ARC32;MGC17544;MGC19641 OTTHUMP00000008573;OTTHUMP00000008581;OTTHUMP00000197861;activator-recruited cofactor 32 kDa component;mediator of RNA polymerase II transcription subunit 8;mediator of RNA polymerase II transcription subunit MED8;mediator of RNA polymerase II transcription, subunit 8 homolog APPROVED protein-coding ENSG00000159479 HGNC:19971 06991 607956 REVIEWED 1351770 MEF2B myocyte enhancer factor 2B The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207. [provided by RefSeq, Jan 2014] 19 19 19 p13.11 19161210 19185929 - 19256376 19281098 - 19145567 19170289 - 1580863;6480464;8554872 10458488;10531067;11181995;11230166;11517243;12700764;12861002;14702039;15057824;15084602;1516833;15489334;15567413;16189514;16344560;16504037;1748287;17974005;19093215;19913121;20628086;21796119;21906983;21951798;22302709;23382691;23974956;7760790;8575763;9430690 100271849 B3KQ23;B8ZZJ5;C9J4J4;Q02080 ABBA01051312;ABBA01051313;ABBA01051314;ABBA01051315;AC002126;AI499707;AK057210;AMYH02035751;AMYH02035752;CH471106;DA488022;NM_001145785 AAB86982;BAG51885;EAW84788;EAW84789;EAW84790;EAW84791;EAW84792;EAW84793;NP_001139257;Q02080 Hs.153629 FLJ32648;RSRFR2 MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B);OTTHUMP00000206144;OTTHUMP00000206145;OTTHUMP00000206146;OTTHUMP00000220464;myocyte-specific enhancer factor 2B;serum response factor-like protein 2 APPROVED protein-coding ENSG00000064489;ENSG00000213999 HGNC:6995 600661 VALIDATED 8549354 MEF2BNBP1 MEF2B neighbor pseudogene 1 12 12 12 p12.3 24406264 24406596 - 19260785 19261117 - 19107851 19108183 - 100128109 ABBA01067929;AC092828;AMYH02026130;NG_011617 pseudo HGNC:49883 INFERRED 7248460 MEF2C-AS1 MEF2C antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 5 5 q14.3 88185125 88513260 + 88883330 89032379 + 8554872 16344560;23400010;23801869;24162737;24249740 101929423 ABBA01062139;ABBA01062140;AC008835;AC010259;AC116339;AL050132;AMYH02011764;BG503445;BM996458;BU599131;BX091476;DA520067;DB471951;HG498209;HG498212;HG498213;HG498214;HG498218;NR_104031;NR_109940;NR_109941 Hs.130138;Hs.566312;Hs.649917 CTC-454M9.1 ncrna ENSG00000248309 HGNC:48908 VALIDATED 1349172 MEF2C myocyte enhancer factor 2C This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] 5 5 5 q14.3 83907023 84092551 - 88014058 88199922 - 88718241 88904105 - 1580863;1580546;5131608;5131610;2312263;6480464;6907045;7240710;7327215;8554872;8699517 16469744;18413674;18949272;20041152;23948075 10082551;10330143;10458488;10523670;10737771;10790371;10805738;11160896;11279209;11486037;11504882;11535832;11554755;11744164;11792813;11809751;12061776;12130539;12135755;12376544;12477932;12659851;12709441;12861002;15084602;15140898;15276183;15340086;15342556;15486975;15561718;15743821;15743823;15831463;15834131;15923648;15964851;16043483;16478538;16504037;16510869;17611778;17696759;17903302;18029348;18067759;18079734;18332106;18463162;18588859;18660489;18950845;19011954;19065516;19093215;19453261;19553684;19592390;19720801;19751190;19801982;19828686;19913121;20211142;20333642;20412115;20513142;20610535;20628086;20709755;20881960;20936779;21060863;21481790;21533022;21652706;21849497;21890473;21901155;21906983;21988832;22073279;22139419;22275376;22363514;22449245;22504420;22670137;22718505;22798246;22997707;23001426;23174904;23226416;23382706;23389741;23400010;23402836;23468913;23572186;23776548;24008018;24162737;24249740;24290359;24412363;7679508;8455629;8548800;8575763;8575784;8663403;8900141;8948587;9001254;9069290;9384584;9418854;9748305;9753748;9770491;9798649;9857019;9858528 4208 D6R942;D6R9J8;D6RAH2;D6RB91;D6RC63;D6RCM6;D6RG14;D6RG21;D6RJ95;D6RJA7;D6RJG6;D8L7E9;Q06413 ABBA01062138;ABBA01062139;AC008525;AC008835;AK307883;AK312472;AL833268;AL833274;AMYH02011761;AMYH02011762;AMYH02011763;AMYH02011764;AX214546;BC026341;BP231922;CH471084;DC318557;DC377336;DC377710;FM163484;FM180475;L08895;NG_023427;NM_001131005;NM_001193347;NM_001193348;NM_001193349;NM_001193350;NM_002397;S57212;XM_005248511;XM_006714618;XM_006714619;XM_006714620;XM_006714621;XM_006714622;XM_006714623;XM_006714624;XM_006714625 AAA59578;AAB25838;AAI52785;AAI56604;ABZ92163;ACE87843;ACT64353;ACT64355;ACT64526;ACT64527;BAG35378;CAC69373;CAQ57795;CAQ86609;EAW95961;EAW95962;EAW95963;EAW95964;EAW95965;EAW95966;EAW95967;EAW95968;NP_001124477;NP_001180276;NP_001180277;NP_001180278;NP_001180279;NP_002388;Q06413;XP_005248568;XP_006714681;XP_006714682;XP_006714683;XP_006714684;XP_006714685;XP_006714686;XP_006714687;XP_006714688 Hs.649965 1663523;1674898;1688374;1700512;1713211;1716513;1717099;1750267;1752539;1785746;1797858;1850080;2121812;2126277;2130280;2131275;2132290;2141269;2168558;2174241;2182786;2185612;5017716 1372;D5S1705;D5S1755;D5S2436;G10647;L28334;MEF2C;MEF2C_2028;RH103877;RH120393;RH121467;RH121542;RH93636;SGC30054;SGC30495;SHGC-106419;SHGC-112475;SHGC-56442;SHGC-60182;SHGC-60204;SHGC-81868;STS-Z40067;WI-11682 C5DELq14.3;DEL5q14.3 MADS box transcription enhancer factor 2, polypeptide C;OTTHUMP00000222409;OTTHUMP00000222410;OTTHUMP00000222411;OTTHUMP00000222412;OTTHUMP00000222416;OTTHUMP00000222540;OTTHUMP00000222542;OTTHUMP00000222543;OTTHUMP00000222544;OTTHUMP00000222656;myocyte-specific enhancer factor 2C APPROVED protein-coding ENSG00000081189 HGNC:6996 02809 600662;613443 REVIEWED 733415 MEF2D myocyte enhancer factor 2D This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 1 1 1 q12-q23 129506529 129543551 - 156433513 156470634 - 156463721 156500842 - 1580863;6480464 10458488;10523670;10531067;10737771;10825153;10849446;10933397;10944115;11096067;11433030;11904443;12213324;12477932;12896970;14702039;15302935;15489334;15743823;15744350;15834131;15902271;16043483;16166628;16356933;16964243;17081983;17158926;17959722;18026121;18029348;18299387;18541383;18660489;19093215;19119233;19188441;19453261;19471022;19851296;19913121;20198315;20363751;20590529;20628086;20682687;20936779;21393861;21414300;21693764;21832049;21890473;21906983;22094256;22256741;22683712;23793025;24279793;24390737;8269842;8575763;8798771;8900141;9753748;9858528 4209 Q05BX2;Q14814 AB210005;ABBA01016655;ABBA01016656;AF086193;AK027180;AK056972;AK308641;AL139412;AL365181;AMYH02001972;BC018985;BC032479;BC040949;BC054520;BX640792;BX647226;CH471121;DC377787;HI574186;L16794;L16795;NM_001271629;NM_005920;R42560;XM_005245169;XM_005245170;XM_006711330;XM_006711331;XM_006711332;XM_006711333;XM_006711334 AAA59579;AAA93194;AAH32479;AAH40949;AAH54520;BAE06087;CBX47582;EAW52948;EAW52950;EAW52951;EAW52952;NP_001258558;NP_005911;Q14814;XP_005245226;XP_005245227;XP_006711393;XP_006711394;XP_006711395;XP_006711396;XP_006711397 Hs.314327;Hs.744524 1685331;1730195;1797860;2117246;2129803;2164066;2191255 1996;D1S262E;HSC1IB102;MARC_16813-16814:1021558453:1;MEF2D_2065;RH70462;RH81006 DKFZp686I1536 MADS box transcription enhancer factor 2, polypeptide D;MADS box transcription enhancer factor 2, polypeptide D (myocyte enhancer factor 2D);MEF2D/DAZAP1 fusion;OTTHUMP00000031810;OTTHUMP00000031852;OTTHUMP00000031853;myocyte enhancer factor 2D/deleted in azoospermia associated protein 1 fusion protein;myocyte-specific enhancer factor 2D protein-coding ENSG00000116604 HGNC:6997 02810 600663 REVIEWED 5131351 MEF2BNB MEF2B neighbor INVOLVED IN heart development; INTERACTS WITH valproic acid; C60 fullerene (ortholog); indole-3-methanol (ortholog) 19 19 19 p13.11 19192547 19208203 - 19287713 19303400 - 19176904 19192591 - 6480464 10458488;12477932;14702039;15489334;16189514;16344560;19913121;20379614;20628086;24250222;8889548 729991 K7ENY0;Q96FH0;U3KPZ4 ABBA01051316;ABBA01051317;ABBA01051318;AC002126;AK057161;AK128256;AMYH02035752;BC000489;BC004449;BC010178;BC010931;BC064537;BC073957;BC157837;BC157868;BC171829;BC171869;BQ186686;CA421006;DA440390;NM_001145783;NM_001145784 AAH04449;AAI57838;AAI57869;ACE86430;ACE86454;ACE87105;ACE87130;NP_001139255;NP_001139256;Q96FH0 Hs.153629 2165397;2184321;5014019;5022578;5022651;5024039 A006X47;D11S2921;D16S325;D19S648E;D1S1423;D5S2354 AK128256;FLJ32599;FLJ46391;MGC189732;MGC189763 MEF2B neighbor gene protein;OTTHUMP00000220467;OTTHUMP00000220468;hypothetical protein LOC729991 protein-coding ENSG00000064489;ENSG00000254901 HGNC:37247 VALIDATED 737570 MEFV Mediterranean fever This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3497690 3512281 - 3292028 3306648 - 3242028 3256648 - 1580863;5129184;5129189;5129186;6480464;6907045;7240710;7349346;7349344;7349343;7349347;8554872;8699517 12746942;18219832;20217092;20602240;22451026;23038988;23862117 10024914;10090880;10234504;10364520;10612841;10666224;10737995;10782044;10787449;10807793;10842288;10854105;11115844;11139244;11175300;11464238;11464248;11468188;11470495;11484206;11498534;11588211;11781702;12054656;12077709;12105243;12124996;12180071;12384939;12401847;12461684;12477932;12615073;12646168;12687559;12700594;12762136;12905488;12929299;12955725;12966608;14578967;14595024;14615741;14636645;14679589;14727057;14727457;14985395;15018633;15024744;15071491;15122067;15146467;15458961;15643295;15667491;15674370;15717684;15724392;15805719;15903027;15942916;15958759;16037825;16118480;16225401;16234278;16245224;16255051;16378925;16387839;16403826;16439335;16498413;16523434;16523438;16614989;16627024;16707534;16721494;16730661;16785446;16907704;17067442;17067447;17090974;17102945;17195238;17276496;17454935;17469185;17489852;17520284;17566872;17594097;17665427;17696266;17697637;17710881;17711558;17889261;17938136;17964261;18000697;18006045;18035151;18061974;18097735;18177465;18177471;18266121;18300119;18307385;18318646;18328141;18330885;18340637;18353061;18389382;18403822;18496034;18512793;18576390;18577712;18597091;18609258;18648395;18662100;18691160;18725973;18795391;18825879;18832548;18843775;18984609;19014044;19026119;19026701;19033264;19115056;19119044;19158676;19210876;19253030;19262573;19309279;19346738;19373257;19397405;19423540;19449169;19465590;19473580;19479870;19479871;19489440;19494323;19531756;19579027;19641922;19675583;19688293;19714479;19729025;19755381;19762364;19777236;19784369;19820229;19820675;19845843;19863562;19913121;19929404;19934083;19934105;19998717;20008920;20031469;20041150;20113338;20151816;20165923;20177433;20194447;20224922;20301405;20306331;20373849;20391345;20406964;20437121;20438785;20483145;20485448;20506103;20518828;20533539;20534143;20549290;20628086;20645115;20669279;20677014;20828792;20845072;20937419;21153919;21179105;21231959;21246368;21284530;21294448;21299735;21366387;21385537;21562927;21615705;21623663;21695514;21789721;21819621;21833519;21901355;22019805;22037353;22207183;22281876;22337722;22351163;22368275;22453916;22467954;22532615;22580583;22614345;22705602;22771921;22783597;22790142;22798132;22808562;22810105;22884555;22934972;22953644;22960328;23015306;23031807;23053724;23137073;23155201;23164758;23206693;23228227;23269568;23297013;23325590;23360841;23479736;23505238;23588594;23592051;23633568;23663176;23800337;23812619;23844200;23973724;23981758;24009456;24064016;24071932;24261764;24383976;24929125;24980720;9152834;9177779;9288094;9288758;9572633;9653642;9668175;9735379 4210 D2DTW1;D2DTW2;E3P8H6;F5GZV9;F5H2E5;F5H595;F5H6N9;F8W6Z2;I3L0S7;O15553 ABBA01026737;ABBA01026738;AF018080;AF111163;AF301150;AF301151;AJ003147;AK298660;AMYH02031287;BC101511;BC101537;CH471112;FJ785717;FJ785718;FJ785719;FJ785720;FJ785721;FJ785722;NG_007871;NM_000243;NM_001198536;XM_006720879;Y14441 AAB70557;AAD26152;AAI01512;AAI01538;AAK97223;AAK97224;ACV82585;ACV82586;ACV82587;ACV82588;ACV82589;ACV82590;BAG60828;CAA05906;CAA74793;EAW85382;EAW85383;NP_000234;NP_001185465;O15553;XP_006720942 Hs.632221 1339525;1340085;5015404;5015619;5015879;5015961;5016478;5020414;5020946;5024413;5037552 D11S3114;D15S1477;D16S3070;D16S3082;D8S2279;GDB:314949;GDB:434012;L17688;L17705;L17877;L17971 FMF;MEF;MGC126560;MGC126586;TRIM20 OTTHUMP00000159670;OTTHUMP00000237919;OTTHUMP00000237926;OTTHUMP00000238138;OTTHUMP00000238139;OTTHUMP00000238140;OTTHUMP00000238141;marenostrin;pyrin APPROVED protein-coding ENSG00000103313 HGNC:6998 02012 134610;249100;608107 REVIEWED 1351308 MEG3 maternally expressed 3 (non-protein coding) This gene is a maternally expressed imprinted gene. Multiple alternatively spliced transcript variants have been transcribed from this gene and all of them are long non-coding RNAs (lncRNAs). This gene is expressed in many normal tissues, but its expression is lost in multiple cancer cell lines of various tissue origins. It inhibits tumor cell proliferation in vitro. It also interacts with the tumor suppressor p53, and regulates p53 target gene expression. Its deletion enhances angiogenesis in vivo. Many experimental evidences demonstrate that this gene is a lncRNA tumor suppressor. [provided by RefSeq, Mar 2012] 14 14 14 q32 81346520 81381440 + 101292445 101327363 + 100826108 100861026 + 6480464 10759892;11337479;11731499;12477932;14602737;14702039;15644399;16344560;16793321;17213841;17569660;18176563;18282507;18454453;18478039;18628527;19595458;19656776;19786834;19966805;20032057;20179190;20395239;20585555;21112873;21625215;21850407;21871428;22234798;22393162;23295831;23307326;23415968;23790166;24006224;24098911;24173021;24374217;24515776;8619474;9110174 55384 Q9UI56 AB032607;ABBA01048519;AF052114;AJ413186;AJ413187;AK055725;AK057522;AK092504;AK092707;AK098378;AK124580;AK127864;AL117190;AMYH02029862;AV704361;AY314975;BC023543;BC036882;BC051294;BC062783;BC092509;BQ270557;BQ613976;CH471061;DB179384;DB449068;GQ183494;GQ183495;GQ183496;GQ183497;GQ183498;GQ183499;GQ183500;GQ183501;GQ183502;GQ183503;HG506584;HG506585;HG506586;HG506587;HG506588;HG506589;HG506590;HG506591;HG506592;HG506593;HG506595;HG506596;HG506599;HG506600;HG506601;HG506606;HG506607;HG975417;NG_016853;NR_002766;NR_003530;NR_003531;NR_033358;NR_033359;NR_033360;NR_046464;NR_046465;NR_046466;NR_046467;NR_046468;NR_046469;NR_046470;NR_046471;NR_046472;NR_046473 Hs.654863 1340546;1644291;1648663;1659927;1668553;1678513;1680176;1683004;1698026;1698602;1740043;1759449;1775769;2124688;2145329;2182856;2185351;5015861;5024039;5092806;5096182;5109281;5492033;7185938 A005C18;A006G07;D10S16;D14S902;D14S985;D16S325;D1S1425;G32342;MARC_7455-7456:974218208:1;RH102544;RH102854;RH44666;RH44918;RH68771;RH80879;RH91376;RH91436;SHGC-150904;SHGC-34694;SHGC-35154;STS-N59777;STS-W38427;WI-16835 FLJ31163;FLJ42589;FLJ44703;FP504;GTL2;LINC00023;NCRNA00023;PRO0518;PRO2160;prebp1 APPROVED ncrna ENSG00000214548 HGNC:14575 605636 REVIEWED 6482599 MEG9 maternally expressed 9 (non-protein coding) 14 14 14 81592300 81595326 + 101536248 101539274 + 101069911 101072937 + 14702039;19194500;23322567 100507257 ABBA01048514;AK021527;AK094562;AL132709;AMYH02029867;CK824083;NR_047664 Hs.301755 1671919;1680451;1857117 RH70134;RH91474;STS-T54659 LINC00584 ncrna ENSG00000223403 HGNC:43874 VALIDATED 1601732 MEGF10 multiple EGF-like-domains 10 This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012] 5 5 5 q33 122757239 122927674 + 126565206 126796914 + 127290764 127461222 + 6480464;8699517;7240710;8554872 11347906;12421765;12477932;14702039;16344560;17205124;17498693;17643423;18179784;19197986;19721717;20379614;20813413;20828568;22101682;22371254;23382691;23535033 84466 Q96KG7 AB058676;ABBA01068878;ABBA01068879;ABBA01068880;ABBA01068881;AC008402;AC008682;AC010424;AK021631;AK123568;AK307919;AMYH02012162;BC020198;BC152478;CH471062;CR749437;DA240513;DA738723;KC877097;KC877107;NG_032072;NM_001256545;NM_032446;XM_006714722 AAH20198;AAI52479;BAB47409;CAH18275;EAW62406;EAW62407;NP_001243474;NP_115822;Q96KG7;XP_006714785 Hs.438709 1674863;1708668;1712000;1715291;1751829;1751955;1755873;1780632;1780880;1785276;2140639;2174806;2179697;5094949 L28280;MEGF10;RH118453;RH120476;RH65273;SHGC-105805;SHGC-105973;SHGC-106891;SHGC-142712;SHGC-34560;SHGC-81475;WI-13521;bac51467T;bac53144T DKFZp781K1852;FLJ41574;KIAA1780 EMARDD;OTTHUMP00000159235;OTTHUMP00000223094;multiple EGF-like domains protein 10;multiple epidermal growth factor-like domains protein 10 APPROVED protein-coding ENSG00000145794 HGNC:29634 14384 612453;614399 REVIEWED 1350137 MEG8 maternally expressed 8 (non-protein coding) This gene is located in a cluster of imprinted genes on chromosome 14q32.3. It encodes a a non-protein coding transcript that is preferentially expressed from the maternal allele in skeletal muscle, and appears to be coordinately regulated with other imprinted genes in this region. [provided by RefSeq, Oct 2010] 14 14 14 q32.31 81414929 81427137 + 101361107 101373305 + 100894770 100906968 + 6480464 11337479;11481034;12045206;12107410 79104 ABBA01048514;ABBA01048515;ABBA01048516;AL117190;AMYH02029863;AMYH02029864;AMYH02029865;CA396130;HG506611;HG506612;NR_024149 Hs.655789 1768378;1773701;2176822 A003P35;G09851;RH44958 Bsr;Irm;LINC00024;NCRNA00024;RP11-909M7.1;Rian APPROVED ncrna ENSG00000258399 HGNC:14574 613648 REVIEWED 1322126 MEF2A myocyte enhancer factor 2A The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] 15 15 15 q26 76525015 76675549 + 100106133 100256688 + 99565583 99716483 + 1580548;1580549;1580546;1580863;2312263;6480464;7240710;8554872 15811259;15841183;16469744;18413674 10330143;10458488;10487761;10531066;10737771;10748098;10825153;10835359;10849446;10852968;11076863;11160896;11230166;11316766;11792813;11904443;12061776;12371907;12477932;12586839;12626519;12691662;12861002;1329097;14630949;14645853;14960415;15043778;15057983;15084602;15123239;15132737;15140898;1516833;15173318;15276183;15466416;15489334;15489336;15496429;15798210;15834131;15841171;15861005;15923648;15958500;16043483;16195615;16314281;16344560;16381901;16484498;16504037;16563226;16767660;16872533;16951497;16956611;16980305;17112666;1748287;17579569;17611778;18073218;18086930;18160598;18222924;18249389;19058854;19093215;19153100;19161138;19364819;19389706;19453261;19684601;19782985;19913121;19935709;20031581;20086047;20132824;20363751;20379614;20467438;20546016;20590529;20628086;20682687;21450604;21468593;21693764;21741404;21767578;21890473;21906983;21988832;22028303;22363637;22446626;22484155;23028138;23224591;23326349;23382855;23461724;23955241;24043307;24250222;7760790;8548800;8575763;8662987;8697817;8798771;8889549;8900141;9418854;9753748;9858528 4205 F8W966;H0YKY6;H0YM62;H0YNI2;Q02078 AB208985;ABBA01020551;ABBA01020552;ABBA01020553;ABBA01020554;AC022692;AC103967;AK291835;AK294207;AL831995;AMYH02031153;AMYH02031154;BC013437;BC053871;CH471101;DA778137;N93079;NG_016443;NM_001130926;NM_001130927;NM_001130928;NM_001171894;NM_005587;U49020;X63381;X68503;X68504;X68505;XM_005254914;XM_005254915;XM_005254916;XM_006720509;XM_006720510;XM_006720511;XM_006720512;XM_006720513;XM_006720514;XM_006720515;XM_006720516;XM_006720517;XM_006720518;XM_006720519;XM_006720520;XM_006720521;Y16312 AAB17195;AAB17196;AAH13437;AAH53871;ABZ92017;BAD92222;BAF84524;BAG57518;CAA44979;CAA48516;CAA48517;CAA76175;CAL37617;CAL38731;EAX02249;EAX02250;EAX02251;EAX02252;NP_001124398;NP_001124399;NP_001124400;NP_001165365;NP_005578;Q02078;XP_005254971;XP_005254972;XP_005254973;XP_006720572;XP_006720573;XP_006720574;XP_006720575;XP_006720576;XP_006720577;XP_006720578;XP_006720579;XP_006720580;XP_006720581;XP_006720582;XP_006720583;XP_006720584 Hs.268675 1644064;1649233;1723307;1745947;1774132;1775419;2114353;2128526;2170552;2173902;2176220;2176340;2190751;5022578;5093062 A009F05;D15S1215;D15S901;D15S907;D1S1423;G32497;G64293;RH118469;RH15752;RH45068;RH70651;RH78714;SHGC-75886;STS-U44889;UniSTS:265599 ADCAD1;RSRFC4;RSRFC9;mef2 MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A);myocyte-specific enhancer factor 2A;serum response factor-like protein 1 APPROVED protein-coding ENSG00000068305 HGNC:6993 02807 600660;608320 REVIEWED 736662 MEGF6 multiple EGF-like-domains 6 ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 5-azacytidine; aflatoxin B1; all-trans-retinoic acid 1 1 1 p36.3 2657546 2783180 - 3404506 3528059 - 3487942 3611495 - 68762;1580863;6480464 9693030 12122015;12168954;16710414;16713569;18654987;20029029;21078624;8889548 1953 H7C557;H7C5N9;O75095 AB011539;AB231860;ABBA01073655;ABBA01073656;ABBA01073657;ABBA01073658;AF086226;AF086414;AL512413;AL513320;AMYH02000136;AMYH02000137;BM984873;BU501408;NM_001409;XM_006710406;XM_006710407;XM_006710408;XM_006710409;XM_006710410;XR_426590;XR_426591;XR_426592;XR_426593 AAI46387;BAA32467;BAE19678;NP_001400;O75095;XP_006710469;XP_006710470;XP_006710471;XP_006710472;XP_006710473 Hs.593645 1658798;1711152;1732960;1761955;1781746;1851378;2146405 D1S1347;D1S3578;SHGC-145891;SHGC-155369;SHGC-74093;SHGC-74138;SHGC-85309 EGFL3;KIAA0815 EGF-like protein 3;EGF-like-domain, multiple 3;OTTHUMP00000000663;OTTHUMP00000215006;OTTHUMP00000215007;epidermal growth factor-like protein 3;multiple EGF-like domains protein 6;multiple epidermal growth factor-like domains protein 6 protein-coding HGNC:3232 11973 604266 VALIDATED 1342735 MEGF9 multiple EGF-like-domains 9 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; bilirubin; methotrexate 9 9 9 q32-q33.3 94011363 94124882 - 123363196 123476765 - 120600918 120714487 - 68762;1580863;6480464;8554872 9693030 12477932;12975309;15164053;20339536;24098452;8889548 1955 Q9H1U4 AB011542;ABBA01016245;ABBA01016246;ABBA01016247;ABBA01016248;AJ420444;AK295380;AL138836;AMYH02021571;AY358370;BC008313;BC016989;CH471090;CK300579;NM_001080497 AAI56249;AAI57030;AAQ88736;BAA32470;BAH12051;EAW87465;NP_001073966;Q9H1U4 Hs.744903 1298108;1668463;1687842;1715895;1766977;2131099;2174771;2175741;5022651;5037552 D11S2921;D8S2279;D9S1087;D9S1850;RH122682;RH47226;RH80677;SHGC-152520;STS-N34474;STS-T79417 EGFL5 EGF-like protein 5;EGF-like-domain, multiple 5;OTTHUMP00000022793;epidermal growth factor-like protein 5;multiple EGF-like domains protein 9;multiple epidermal growth factor-like domains protein 9 protein-coding ENSG00000106780 HGNC:3234 604268 VALIDATED 1349359 MEHMO mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome ASSOCIATED WITH MEHMO syndrome (inferred) 7240710 9781023 8422 1702866 DXS365 HGNC:6999 300148 1603600 MEGF11 multiple EGF-like-domains 11 INVOLVED IN homotypic cell-cell adhesion (ortholog); retina layer formation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 15 15 15 q22.31 43065556 43436170 - 66187634 66546075 - 65895296 66253737 - 6480464;8554872 11347906;12477932;12975309;14702039;16713569;17498693;19851296;20198315 84465 A6BM72;C9JYE7;H3BR81 AB058677;AB300051;ABBA01038831;ABBA01038832;ABBA01038833;ABBA01038834;ABBA01038835;AC011847;AC084854;AC087382;AC209298;AK090663;AL834326;AMYH02030637;AMYH02030638;AMYH02030639;AMYH02030640;AMYH02030641;AMYH02030642;AY358226;BC029999;BC117419;BC126313;CH471082;KF456072;NM_032445;XM_006720722 A6BM72;AAI17420;AAI26314;AAQ88593;BAB47410;BAF64841;CAD38994;EAW77754;EAW77755;EAW77756;EAW77757;NP_115821;XP_006720785 Hs.712886 1335226;1340314;1663881;1686188;1686340;1727491;1780138;2110553;2153582;7186701 D15S1213;D15S213;D15S651;G63003;MEGF11__7389;RH79766;RH92758;SHGC-154443;SHGC-17601 DKFZp434L121;KIAA1781 OTTHUMP00000164230;OTTHUMP00000203023;multiple EGF-like domains protein 11;multiple epidermal growth factor-like domains protein 11 protein-coding ENSG00000157890 HGNC:29635 14385 612454 VALIDATED 737434 MEGF8 multiple EGF-like-domains 8 The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 19 19 19 q12 39630557 39683710 + 42829730 42882921 + 42325609 42378769 + 68762;1580863;6480464;8699517;7240710;8554872 9693030 12477932;12546731;15489334;16335952;16712791;16713569;19056867;21078624;22268729;23063620;24250222 1954 F5GZG7;M0QZL2;M0R0Q0;Q7Z7M0 AB011541;ABBA01040846;ABBA01040847;AC011497;AC024078;AF497566;AK026018;AMYH02036149;AMYH02036150;AY280362;BC033228;BC093649;BC111942;BC153880;BF941059;CB122799;CH471126;NG_033030;NM_001271938;NM_001410 AAH33228;AAI53881;AAO85531;AAP35084;BAA32469;EAW57132;EAW57133;NP_001258867;NP_001401;Q7Z7M0 Hs.132483 1769546;5022578;5024761 D1S1423;RH36905;STS-R97176 C19orf49;CRPT2;EGFL4;FLJ22365;MGC120684;MGC138147;SBP1 EGF-like domain-containing protein 4;EGF-like protein 4;EGF-like-domain, multiple 4;HBV pre-S2-binding protein 1;HBV pre-s2 binding protein 1;OTTHUMP00000197110;Putative uncharacterized protein C19orf49;epidermal growth factor-like protein 4;hepatitis B virus pre-S2-binding protein 1;multiple EGF-like domain protein 4;multiple EGF-like domains protein 8;multiple epidermal growth factor-like domains 8;multiple epidermal growth factor-like domains protein 8 protein-coding ENSG00000105429 HGNC:3233 10370 604267;614976 REVIEWED 1642765 MEI1 meiosis inhibitor 1 INVOLVED IN male meiosis I (inferred); spermatid development (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; potassium dichromate (ortholog) 22 22 22 q13.2 25901954 26001526 + 42095518 42195459 + 41699505 41799456 + 6480464;8554872 12477932;14668445;14702039;16503656;16683055;20379614 150365 F5GZT0;H0Y787;Q4G0I1;Q5TIA1 ABBA01055651;ABBA01055652;AK092934;AK093341;AK094461;AK097834;AK128158;AK301391;AK301435;AK303957;AK307341;AL021453;AL023879;AMYH02038447;AMYH02038448;AMYH02038449;AY952376;AY952377;BC025400;BC029582;BC032248;BC035720;BC070111;BC144638;CH471095;NM_152513;XM_006724154;XM_006724155;XM_006724156;XR_430401;Z83840 AAH25400;AAH32248;AAH35720;AAH70111;AAI68371;AAY27427;AAY27428;BAC04138;BAC04361;BAC05179;BAC87303;BAH13471;BAH13481;BAH14083;EAW60465;NP_689726;Q5TIA1;XP_006724217;XP_006724218;XP_006724219 Hs.116419 1681004;1701142;5014051;5015619;5016781;5037552 D11S3114;D8S2278;D8S2279;RH104199;RH74961;SHGC-67307 MGC40042;SPATA38 MEI1 {ECO:0000312|HGNC:HGNC:28613};OTTHUMP00000199479;meiosis defective 1;meiosis defective protein 1;meiosis inhibitor protein 1;spermatogenesis associated 38 protein-coding ENSG00000167077 HGNC:28613 608797 VALIDATED 1348116 MEIG1 meiosis/spermiogenesis associated 1 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); FOUND IN nucleus (inferred); INTERACTS WITH formaldehyde; pirinixic acid; 17alpha-ethynylestradiol (ortholog) 10 10 10 p13 14930330 14943726 + 14996324 15014856 + 14954383 14972857 + 6480464 11329013;15328412;17643375;19805151;23258628 644890 Q5JSS6 AA971146;ABBA01034601;ABBA01034602;ABBA01034603;AI694434;AL360083;AMYH02022205;BG189536;NM_001080836;XM_005252559;XM_005252560;XM_005252561 NP_001074305;Q5JSS6;XP_005252616;XP_005252617;XP_005252618 Hs.257249 2125965 RH66273 SPATA39;bA2K17.3 OTTHUMP00000019179;meiosis expressed gene 1 homolog;meiosis expressed gene 1 protein homolog;spermatogenesis associated 39 APPROVED protein-coding ENSG00000197889 HGNC:23429 614174 VALIDATED 1604193 MEIOB meiosis specific with OB domains ENCODES a protein that exhibits chromatin binding (ortholog); single-stranded DNA 3'-5' exodeoxyribonuclease activity (ortholog); single-stranded DNA binding (ortholog); INVOLVED IN double-strand break repair via homologous recombination (ortholog); female meiosis I (ortholog); fertilization (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; cadmium atom 16 16 16 p13.3 2096249 2134396 - 1883984 1922179 - 1833983 1872178 - 6480464 11157797;12477932;20379614;24068956;24163370 254528 H3BSU6;H3BU10;H3BU18;Q8N635 ABBA01030291;ABBA01030292;ABBA01030293;AE006639;AL031722;AL132823;AL499628;AMYH02031236;AMYH02031237;AMYH02031238;BC029829;CD300613;CH471112;DB461414;NM_001163560;NM_152764 AAH29829;AAK61296;ABM82225;ABM85409;CAM28376;EAW85604;EAW85605;EAW85606;EAW85607;NP_001157032;NP_689977;Q8N635 Hs.729604 C16orf73;MGC35212;gs129 OTTHUMP00000158865;OTTHUMP00000211672;hypothetical protein LOC254528;meiosis-specific with OB domain-containing protein;uncharacterized protein C16orf73 APPROVED protein-coding ENSG00000162039 HGNC:28569 17530 VALIDATED 6481350 MEIS1-AS1 MEIS1 antisense RNA 1 p14 100873999 AC092669;CA772438 APPROVED ncrna HGNC:40371 7255827 MEI4 meiosis-specific 4 homolog (S. cerevisiae) INVOLVED IN meiotic DNA double-strand break formation (ortholog); oogenesis (ortholog); spermatogenesis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN lateral element (ortholog) 6 6 78360302 78634476 + 77650586 77924759 + 8554872 14574404;20551173 101928601 A8MW99 ABBA01040388;ABBA01040389;ABBA01040390;ABBA01040391;AL590785;AL591027;AL591500;AL603628;AMYH02013951;AMYH02013952;AMYH02013953;AMYH02013954;AMYH02013955;AMYH02013956;AMYH02013957;AMYH02013958;AMYH02013959;NM_001282136;XM_005248773;XM_005248774;XM_006715298 A8MW99;NP_001269065;XP_005248830;XP_005248831;XP_006715361 meiosis-specific 4 homolog;meiosis-specific protein MEI4-like protein-coding HGNC:43638 INFERRED 6480305 MEIS1-AS3 MEIS1 antisense RNA 3 2 2 2 p14 66502425 66509919 - 66650474 66660602 - 66423342 66433470 - 16344560;8889548 730198 ABBA01075458;AC092669;AMYH02003988;AMYH02003989;CF891067;DA226783;DA702499;DA708779;DA735371;HG494086;KF456673;NR_046438 Hs.526753 1755751 SHGC-142599 AC092669.5 APPROVED ncrna HGNC:40369 VALIDATED 1354497 MEIS3P1 Meis homeobox 3 pseudogene 1 This gene appears to be a retrotransposed pseudogene based on its lack of exons compared to other family members, one of which is found on chromosome 19 (MEIS3). It does appear to be transcribed and has an ORF that may encode a protein of similar size and sequence to that encoded by MEIS3. [provided by RefSeq, Jul 2008] 17 17 p12 15690164 15693019 + 15786850 15789705 + 6480464 14702039;16625196;8889548;9049632 4213 A6NDR6 ABBA01035673;ABBA01035674;AC015922;AK054814;AMYH02033060;BM463727;BQ575773;BU685266;NR_002211;U68385 A6NDR6;AAB19195 Hs.356135 1687932;1689259 RH47617;RH80845 MEIS3;MEIS4;MRG2 meis1, myeloid ecotropic viral integration site 1 homolog 4 (mouse) APPROVED pseudo HGNC:7002 VALIDATED 1606930 MEIS3P2 Meis homeobox 3 pseudogene 2 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 17 17 17 p11.2 3598 3914 + 20492338 20494128 + 20589025 20590815 + 6480464 14702039;16625196 257468 A8K0S8 AC087499;AK289643;AMYH02033186;NG_002418 BAF82332 Hs.462484 1687932;1689259 RH47617;RH80845 pseudo HGNC:17638 INFERRED 1348772 MELAS mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 4219 HGNC:7008 1315277 MEIS1 Meis homeobox 1 Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. [provided by RefSeq, Jul 2008] 2 2 2 p14 66510942 66648316 + 66662257 66799891 + 66435125 66572759 + 1580863;6480464 10082572;10373562;10471746;10523646;11161815;11331288;11342305;12477932;12609849;14701735;14702039;14966272;15103390;15160920;15161102;15466398;15479723;15489334;15617687;15654074;15681849;16087734;16172981;17000644;17637780;17805329;18195096;18216367;18410541;18541116;18692240;18973687;19109563;19126776;19223043;19240061;19279021;19473990;19559479;19563517;19620287;19620614;19776672;19799567;19822783;19913121;20062060;20211142;20237320;20379614;20396431;20541704;20600580;20628086;21422461;21518888;21572129;21703237;21710629;21779176;21858198;21925394;21986840;21988832;22185299;22242598;22353710;22972982;23139255;23660297;23868827;24022755;24244575;24617557;24995868;7565694;8889548;9049632;9226379;9343407;9405651;9847074 4211 B7Z4T5;E9PDC4;F5GYS8;H0YNY8;O00470;U3KPR8 AB040810;ABBA01075458;ABBA01075459;AC007392;AC092669;AC093641;AI203963;AK098174;AK297109;AK297817;AK314949;AL832770;AMYH02003989;AMYH02003990;AMYH02003991;BC036511;BC043503;CB854199;CH471053;NG_011467;NM_002398;U85707;XM_005264321;XM_005264322;XM_005264323;XM_005264324;XM_005264325;XM_006712020;XR_244932;XR_244933 AAC51642;AAH43503;AAN40012;AAY15006;AAY24268;BAB15814;BAG37454;BAG53586;BAH12499;BAH12671;EAW99892;EAW99893;EAW99894;EAW99895;EAW99896;NP_002389;O00470;XP_005264378;XP_005264379;XP_005264380;XP_005264381;XP_005264382;XP_006712083 Hs.526754;Hs.603755 1334749;1340270;1659978;1688983;1719005;1719889;1727411;1729051;1755415;1794650;1858433;2107343;2130476;7183245;7186022 D2S134;D2S290;G63113;MEIS1_7825;Meis1;NIB1519;PMC343796P1;RH123209;RH123637;RH68793;RH75716;SHGC-142293;WI-12712 MGC43380 Meis1, myeloid ecotropic viral integration site 1 homolog;OTTHUMP00000198324;OTTHUMP00000198326;OTTHUMP00000202694;WUGSC:H_NH0444B04.1;homeobox protein Meis1;leukemogenic homolog protein;meis1, myeloid ecotropic viral integration site 1 homolog (mouse) APPROVED protein-coding ENSG00000143995 HGNC:7000 03442 601739 REVIEWED 6481346 MEIS1-AS2 MEIS1 antisense RNA 2 2 2 p14 66666230 66667444 - 66439098 66440514 - 100873998 ABBA01075458;AC092669;CA438676;CA772438;XR_245014;XR_249139 Hs.734698 MEIS1-AS1 APPROVED ncrna HGNC:40370 MODEL 1606647 MEMO1P1 mediator of cell motility 1 pseudogene 1 21 21 21 q22.12 22701269 22703076 + 37502405 37504212 + 36130107 36131914 + 10830953;11707072;16201836;22623428 728556 Q2VIM3 AB041013;ABBA01057384;AMYH02037775;AP000689;AP001725;CH471079;DQ120661;NG_005842 ABB92445;EAX09751 1690456;1794250 PMC310876P2;RH79780 C21orf19;C2orf4P;MEMO1P;rcC2orf4 APPROVED pseudo HGNC:23274 INFERRED 1320537 MEMO1 mediator of cell motility 1 INVOLVED IN regulation of microtubule-based process; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); dioxygen (ortholog) 2 2 2 p22-p21 31937749 32080568 - 32092892 32236116 - 31867823 32011047 - 6480464;8554872 10810093;11707072;12477932;14702039;15156151;15489334;16780588;17043677;18045866;18955552;19223396;20379614;21890473;21906983;21963094;22623428;22824790;23861392;24250222;24654937;25027693 51072 B5MCI6;C9JSD7;Q9Y316 AB041018;AB041019;ABBA01074858;ABBA01074859;ABBA01074860;AF132961;AF363446;AF529368;AK057760;AK290753;AK297128;AL121652;AL121655;AL161966;AMYH02003533;AMYH02003534;AMYH02003535;AMYH02003536;BC018733;BC036262;BC070046;BC094681;BG033287;BP248979;BU628425;CD250945;CH471053;NM_001137602;NM_001301833;NM_001301852;NM_015955;NR_126032;NR_126034;XM_005264351;XM_005264352;XM_006712028;XR_244937;XR_426982 AAD27736;AAH18733;AAH70046;AAH94681;AAL34462;AAQ09602;ABM82960;ABM86151;BAD74066;BAD74067;BAF83442;BAG59632;EAX00467;EAX00468;EAX00469;EAX00470;EAX00471;EAX00472;EAX00473;EAX00474;NP_001131074;NP_001288762;NP_001288781;NP_057039;Q9Y316;XP_005264408;XP_005264409;XP_006712091 Hs.444969 1673999;1690456;1751015;1794250;2151525;2169090;2173624 Cda0sd05;PMC310876P2;RH79780;SHGC-104933;SHGC-32192;SHGC-57714;SHGC-61993 C2orf4;CGI-27;DKFZp434I0135;FLJ25031;MEMO;NS5ATP7;memo-1 C21orf19-like protein;HCV NS5A-transactivated protein 7;OTTHUMP00000158569;OTTHUMP00000201122;OTTHUMP00000201123;OTTHUMP00000225827;chromosome 2 open reading frame 4;hepatitis C virus NS5A-transactivated protein 7;mediator of ErbB2-driven cell motility 1 protein-coding ENSG00000162959 HGNC:14014 12814 611786 VALIDATED 3340340 MEMO1P2 mediator of cell motility 1 pseudogene 2 6 6 6 q23.3 135959399 135960848 + 135218974 135220423 + 134897836 134899285 + 645175 ABBA01025848;AL021939;AMYH02014541;NG_022967 pseudo HGNC:38502 INFERRED 3077586 MEMO1P3 mediator of cell motility 1 pseudogene 3 3 3 3 166004563 166004950 + 167606118 167606505 + 167888330 167888717 + 100462782 ABBA01058725;AC026353;AMYH02008083;NG_022281 pseudo HGNC:38503 INFERRED 2304753 MEF2BNB-MEF2B MEF2BNB-MEF2B readthrough This gene represents numerous read-through transcripts that span GeneID:729991 and 100271849. Many read-through transcripts are predicted to be nonsense-mediated decay (NMD) candidates, and are thought to be non-coding. Some transcripts are predicted to be capable of translation reinitiation at a downstream AUG, resulting in expression of at least one isoform of myocyte enhancer factor 2B (MEF2B) from this read-through locus. At least one additional MEF2B variant and isoform can be expressed from a downstream promoter, and is annotated on GeneID:100271849. [provided by RefSeq, Oct 2010] 19 19 19 p13.11 19161210 19208203 - 19256376 19303400 - 19145567 19192591 - 6480464;8554872 10531067;11230166;12477932;12700764;14702039;15057824;1516833;15489334;16189514;16344560;1748287;19453261;19913121;20379614;20628086;20967262;21906983;23382691;24250222 4207 H3BNR1;Q02080 ABBA01051312;ABBA01051313;ABBA01051314;ABBA01051315;ABBA01051316;ABBA01051317;ABBA01051318;AC002126;AK301086;AK316328;AMYH02035751;AMYH02035752;BC126245;BC136457;BC171767;NM_005919;NR_027307;NR_027308;X63380;X68502 AAI26246;AAI36458;AAI71767;BAG62689;BAH14699;CAA44978;CAA48515;NP_005910 Hs.153629 2165397;2184321 A006X47;D19S648E LOC729991-MEF2B;MEF2B LOC729991-MEF2B readthrough;OTTHUMP00000206144;OTTHUMP00000206145;OTTHUMP00000206146;myocyte enhancer factor 2B APPROVED protein-coding ENSG00000064489;ENSG00000213999 HGNC:39979 02808 VALIDATED 8661570 MEOX2-AS1 MEOX2 antisense RNA 1 (head to head) 7 7 15726656 15736174 + 15688378 15696892 + 12853948;16344560 101927524 ABBA01056624;AC005550;AI263603;AMYH02015288;DA829065;HG500022;NR_110094 Hs.386790 ncrna HGNC:50672 VALIDATED 1318950 MEOX1 mesenchyme homeobox 1 This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 17 q21 38425737 38447247 - 41717757 41739262 - 43640389 43661894 - 1580863;6480464;7240710;8699517;8554872 11423130;12477932;15039437;15489334;15793308;16582099;17764081;18029348;21832049;22567123;23290072;24073994;24722188;7874108;7987315;9373945 4222 F8VXS6;P50221 ABBA01028402;AC004149;AC068675;AK291139;AMYH02033463;AW410297;BC069474;BC069506;BE898972;BG677020;BQ003431;BQ028272;BX284090;CH471178;NG_032987;NM_001040002;NM_004527;NM_013999;U10492;U10493 AAA19983;AAA19984;AAH69474;AAH69506;ABZ92165;BAF83828;EAW51671;EAW51672;NP_001035091;NP_004518;NP_054705;P50221 Hs.438 1335277;1729847;1732772;1734042;1744229;1744231;1744233;1744235;2107347;2145213 D17S1171;D17S1339;D17S680;D17S965;GDB:438128;GDB:438129;GDB:438132;GDB:438137;MEOX1_7256;SGC35253 KFS2;MOX1 OTTHUMP00000243947;OTTHUMP00000243948;OTTHUMP00000243949;homeobox protein MOX-1;mesenchyme homeo box 1 APPROVED protein-coding ENSG00000005102 HGNC:7013 02537 214300;600147 REVIEWED 1348191 MEP1AL3 meprin A, alpha-like 3 10405340 10852 HGNC:7018 3077604 MEMO1P4 mediator of cell motility 1 pseudogene 4 X X X 123285200 123285570 + 122899172 122899542 + 123765322 123765692 + 100462785 ABBA01036376;AL023575;AMYH02040402;NG_022698 1832652;1839826;1960810;1960812;1960814;1960816;1960818;1960820;1960822 ECD17467;ECD21096;REN51276;REN51277;REN51278;REN51279;REN51280;REN51281;REN51282 pseudo HGNC:38504 INFERRED 733480 MEOX2 mesenchyme homeobox 2 This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease. [provided by RefSeq, Jul 2008] 7 7 7 p22.1-p21.3 15630544 15706034 - 15650837 15726308 - 15611212 15686683 - 1580863;6480464;8554872 10831122;11423130;12477932;12690205;12842453;12853948;15489334;16116430;16189514;16335786;16344560;16713569;17074759;17957028;19336002;19340300;19383287;19760604;20379614;20421348;22206000;22644917;23720494;24722188;7607679;7713505;8266988;9073066 4223 P50222;Q6FHY5 ABBA01056623;ABBA01056624;AC004452;AC005550;AK309472;AK313386;AMYH02015286;AMYH02015287;AMYH02015288;BC017021;BQ025060;CH236948;CH471073;CR536553;DA586635;L36328;NG_032988;NM_005924;X82629 AAA58497;AAC06184;AAC33152;AAH17021;BAG36184;CAA57949;CAG38790;EAL24289;EAW93666;NP_005915;P50222 Hs.170355 1669458;1722407;1725513;1753183;1848223;1858472;2116317;2146689;2157065;2217600 BMS3034;D7S2109E;G60276;GDB:1317668;MEOX2;MEOX2_3097;RH119153;RH68870;SHGC-110076;SHGC-12960 GAX;MOX2 OTTHUMP00000201586;growth arrest-specific homeo box;growth arrest-specific homeobox;homeobox protein MOX-2;mesenchyme homeo box 2;mesenchyme homeo box 2 (growth arrest-specific homeo box) APPROVED protein-coding ENSG00000106511 HGNC:7014 02760 600535 REVIEWED 1313085 MEIS2 Meis homeobox 2 This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q14 13943263 14153527 - 37183222 37393500 - 36891021 37101299 - 6480464;8554872 10619030;10764806;11279116;11438208;11834421;12477932;14702039;14702098;15161102;15489334;15617687;16344560;17178831;18029348;18408019;18821565;18973687;19559479;19584346;20195266;20211142;20379614;20523026;20553494;21368052;21746878;21832049;22028617;23541832;23667531;24002674;24722188;25043012;8889548;9049632;9383298 4212 B3KP81;B3KPD8;B7Z6F6;H0YKE5;H0YKN2;H0YM65;H0YMX5;O14770;U3KQ95;U3KQI2 ABBA01038494;ABBA01038495;ABBA01038496;AC018563;AC069483;AC078909;AF017418;AF178948;AF179896;AF179897;AF179898;AF179899;AK001298;AK055936;AK056038;AK056216;AK056620;AK094531;AK226072;AK294411;AK300247;AK311546;AMYH02030201;AMYH02030202;AMYH02030203;AMYH02030204;AY349358;BC001516;BC001844;BC007202;BC050431;BM679305;CH471125;DA648763;DA689122;NG_029108;NM_001220482;NM_002399;NM_170674;NM_170675;NM_170676;NM_170677;NM_172315;NM_172316;NR_051953;XM_006720522;XM_006720523;XM_006720524;XM_006720525;XM_006720526;XM_006720527;XM_006720528;XM_006720529 AAB70270;AAF81638;AAF81639;AAF81640;AAF81641;AAF81642;AAH01516;AAH01844;AAH07202;AAH50431;AAQ56722;ABZ92164;ACE86583;ACE86590;ACE87272;BAG51593;BAG51610;BAG51650;BAG51768;BAH11758;BAH13242;EAW92343;EAW92344;EAW92345;EAW92346;EAW92347;EAW92348;EAW92349;EAW92350;EAW92351;EAW92352;EAW92353;EAW92354;EAW92355;EAW92356;EAW92357;EAW92358;NP_001207411;NP_002390;NP_733774;NP_733775;NP_733776;NP_733777;NP_758526;NP_758527;O14770;XP_006720585;XP_006720586;XP_006720587;XP_006720588;XP_006720589;XP_006720590;XP_006720591;XP_006720592 Hs.510989 1709152;1761051;1784206;2107345;2131568;2155731;2186857 D15S555;MEIS2_7826;SHGC-145003;SHGC-155559;SHGC-85737;UniSTS:34756;WI-18493 HsT18361;MGC2820;MRG1 Meis homolog 2;Meis1, myeloid ecotropic viral integration site 1 homolog 2;Meis1-related gene 1;OTTHUMP00000160208;OTTHUMP00000160209;TALE homeobox protein Meis2;homeobox protein Meis2;meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse);meis1-related protein 1 2289561 BW440_H APPROVED protein-coding ENSG00000134138 HGNC:7001 03443 601740 REVIEWED 1319059 MELK maternal embryonic leucine zipper kinase ENCODES a protein that exhibits calcium ion binding; non-membrane spanning protein tyrosine kinase activity; protein serine/threonine kinase activity; INVOLVED IN apoptotic process; cell proliferation; peptidyl-tyrosine phosphorylation; FOUND IN cell cortex; membrane; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 9 9 9 p13.2 36506192 36610971 + 36572859 36677680 + 36572862 36677683 + 1300444;1580863;6480464 9136115 11802789;12400006;12477932;14699119;15342556;15489334;15908796;16159311;16216881;16344560;17081983;17280616;17722061;17960622;19615732;19671159;19946888;20433920;21139048;21558073;21806965;21890473;21906983;21963094;22505724;22945237;23000965;23283305;23357462;23836907;23922895;24185907;8125298;8724849;9305775 9833 B7Z1G6;Q14680 AB183427;AB183428;AB267395;ABBA01050412;ABBA01050413;ABBA01050414;ABBA01050415;ABBA01050416;ABBA01050417;ABBA01050418;ABBA01050419;ABBA01050420;ABBA01050421;AI590871;AK222811;AK293284;AK293423;AK293447;AK296820;AK299164;AK300761;AK300821;AK301131;AK302374;AK309470;AL354932;AL442063;AMYH02019480;AMYH02019481;AMYH02019482;BC014039;BP365611;CH471071;CS401372;CS401374;CS401376;D79997;DB368226;HC679607;JA388888;JB319313;KF458917;NM_001256685;NM_001256687;NM_001256688;NM_001256689;NM_001256690;NM_001256691;NM_001256692;NM_001256693;NM_014791;NR_046337;W01871 AAH14039;BAA11492;BAD96531;BAF73615;BAF73616;BAF74635;BAH11482;BAH11502;BAH11508;BAH12436;BAH12961;BAH13343;BAH13354;BAH13416;BAH13687;CAL40334;CAL40335;CAL40336;CBL93957;CCB07557;CDH92804;EAW58302;EAW58303;EAW58304;NP_001243614;NP_001243616;NP_001243617;NP_001243618;NP_001243619;NP_001243620;NP_001243621;NP_001243622;NP_055606;Q14680 Hs.184339 1337000;1723461;1724451;2109501;2158225 D9S1859;MELK_9001;RH118549;RH122388;RH25391 HPK38;KIAA0175;hMELK OTTHUMP00000021377;pEg3 kinase;protein kinase Eg3;protein kinase PK38;tyrosine-protein kinase MELK protein-coding ENSG00000165304 HGNC:16870 06119 607025 VALIDATED 735747 MEP1A meprin A, alpha (PABA peptide hydrolase) ENCODES a protein that exhibits metalloendopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN digestion (inferred); proteolysis (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH arsenous acid; copper(2+) sulfate; diarsenic trioxide 6 6 6 p12-p11 48313551 48359899 + 46761094 46807519 + 46793357 46839782 + 1580863;6480464 10348167;10620696;10898933;11267665;11278902;11301339;11487543;12189145;12477932;12556482;16159877;16344560;16378686;17195012;19262505;1939172;20631730;20806899;22096485;22326557;22923609;24388959;24474695;7340337;7774936;8063866;8125298;8262185;8660687;8760356;9288916;9914532 4224 B7ZL91;Q16819 ABBA01050614;AF478685;AK225212;AK290282;AK315246;AK315840;AL161618;AMYH02013688;BC131714;BC143649;BC143650;BC143651;CH471081;DA432559;M82962;NM_005588 AAA21338;AAI31715;AAI43652;AAL85339;BAF82971;BAF98731;BAG37669;EAX04306;NP_005579;Q16819 Hs.179704 1663030;5122869;5124092 D6S2059;RH65261;STS-M82962 PPHA N-benzoyl-L-tyrosyl-P-amino-benzoic acid hydrolase subunit alpha;OTTHUMP00000016556;PABA peptide hydrolase;PPH alpha;bA268F1.1 (meprin A alpha (PABA peptide hydrolase));endopeptidase-2;meprin 1 alpha;meprin A subunit alpha protein-coding ENSG00000112818 HGNC:7015 02666 600388 VALIDATED 1350793 MEP1AL4 meprin A, alpha-like 4 10405340 10851 HGNC:7019 1352087 MEP1AP1 meprin A, alpha pseudogene 1 9 9 9 p12 1 142 + 42332061 42339039 - 40187043 40194021 - 10405340 642840 AL773545;NG_006472 MEP1AL1 APPROVED pseudo HGNC:7016 INFERRED 4145435 MEP1AP4 meprin A, alpha pseudogene 4 9 9 p11.2 44147807 44154768 + 42816351 42823312 - 643157 ABBA01033775;AMYH02020194;BX664718;CR848007;NG_006471 pseudo HGNC:39138 INFERRED 1318359 MEIS3 Meis homeobox 3 ENCODES a protein that exhibits sequence-specific DNA binding; INVOLVED IN negative regulation of apoptotic signaling pathway (inferred); positive regulation of protein kinase B signaling (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); C60 fullerene (ortholog); choline (ortholog) 19 19 19 q13.32 44710265 44726668 - 47906375 47922785 - 47403118 47419528 - 737633;1580863;6480464;8554872 12477932 15489334;15617687;17178831;20553494;8950991;9049632 56917 H0YLL0;H0YMV2;H0YNA8;H3BLU4;Q99687;U3KQJ9;U3KQV2 AB209455;ABBA01041032;ABBA01041033;AC073548;AK098710;AK289950;AL537583;AMYH02036260;AY091593;BC014430;BC025404;BC042183;BC045741;BC069251;BI522513;BM783223;CF993984;CH471126;DB545063;NM_001009813;NM_001301059;NM_020160;XM_005259086 AAH25404;AAH45741;AAH69251;AAM09846;BAD92692;BAF82639;EAW57478;EAW57479;EAW57480;EAW57481;EAW57482;EAW57483;NP_001009813;NP_001287988;NP_064545;Q99687;XP_005259143 Hs.380923 1687932 RH80845 DKFZp547H236;MRG2 Meis1, myeloid ecotropic viral integration site 1 homolog 3;homeobox protein Meis3;meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse);meis1-related protein 2 protein-coding ENSG00000105419 HGNC:29537 14386 VALIDATED 1603022 MEPCE methylphosphate capping enzyme ENCODES a protein that exhibits poly(A) RNA binding; RNA methyltransferase activity; S-adenosylmethionine-dependent methyltransferase activity; INVOLVED IN RNA methylation; snRNA metabolic process; snRNA modification; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 7 7 7 q22.1 94756212 94761548 + 100026321 100031749 + 100428790 100434126 + 6480464 12107412;12358911;12477932;12690205;14702039;15342556;16009940;16712791;17643375;17978174;18281698;18483487;18781797;19615732;19906723;20471949;21145461;21890473;22190034;22567366;22863883;22990118;23455922;23602568;23667531;24250222;24367103;24457600;24654937;24778252 56257 Q7L2J0 ABBA01013213;AC092849;AF264752;AI432993;AK000264;AK055964;AK291366;AMYH02016379;BC000556;BC016396;BC018935;BP217791;CB152355;CD672398;CH236956;CH471091;NM_001194990;NM_001194991;NM_001194992;NM_019606 AAF74767;AAH00556;AAH16396;AAH18935;BAA91040;BAF84055;BAG51598;EAL23834;EAW76534;EAW76535;EAW76536;EAW76537;NP_001181919;NP_001181920;NP_001181921;NP_062552;Q7L2J0 Hs.178011 1648498;1700950;2143195 RH104102;STS-Z41431;WIAF-1510 BCDIN3;FLJ20257 7SK snRNA methylphosphate capping enzyme;OTTHUMP00000207605;OTTHUMP00000207606;OTTHUMP00000207607;bicoid-interacting protein 3 homolog;bin3 homolog;bin3, bicoid-interacting 3, homolog protein-coding ENSG00000146834 HGNC:20247 07889 611478 VALIDATED 1350045 MER5 antigen identified by monoclonal antibody 2D8 4228 HGNC:7023 4742435 MEP1AP3 meprin A, alpha pseudogene 3 9 9 p12 43162902 43169678 + 66182324 66189100 + 389747 AL513478;AMYH02020138;NG_006474 pseudo HGNC:39137 INFERRED 736255 MEPE matrix extracellular phosphoglycoprotein This gene encodes a secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components of the extracellular matrix of bone and dentin and regulate bone mineralization. Deficiency of a similar protein in mouse results in increased bone mass. Mice lacking this gene are resistant to aging-related trabecular bone loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 4 4 4 q21.1 86030825 86056232 + 88742563 88767969 + 87821411 87846817 + 1580863;6480464;8554872 10945470;11414762;12421822;12477932;12489176;12791601;15108058;15292364;15329369;15954904;17474147;18547474;19005008;19031789;19453261;19679205;19801982;19808933;19998030;20581062;21312267;21739089;21779381;22341070;22504420;22582013;23064961;23570370;24249740;24255709 56955 D6RAC8;D6RFW6;Q8NC19;Q9NQ76 ABBA01063539;AC093768;AF325916;AJ276396;AK075076;AK307774;AMYH02009683;BC128158;CA436639;CH471057;DC314534;DC326111;DQ854717;NG_034073;NM_001184694;NM_001184695;NM_001184696;NM_001184697;NM_001291183;NM_020203;XM_006714278 AAI28159;AAK70343;ABI64294;BAC11386;CAB97250;EAX06001;EAX06002;EAX06003;NP_001171623;NP_001171624;NP_001171625;NP_001171626;NP_001278112;NP_064588;Q9NQ76;XP_006714341 Hs.676357 OF45 OTTHUMP00000161165;OTTHUMP00000161166;OTTHUMP00000219482;matrix, extracellular phosphoglycoprotein with ASARM motif (bone);osteoblast/osteocyte factor 45 protein-coding ENSG00000152595 HGNC:13361 06908 605912 REVIEWED 1342681 MEP1AP2 meprin A, alpha pseudogene 2 9 q21.11 70727366 70734147 - 10405340 644777 AL591479;AMYH02020916;NG_006473 MEP1AL2 APPROVED pseudo HGNC:7017 INFERRED 736443 MEN1 multiple endocrine neoplasia I This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008] 11 11 11 q13 61897163 61904940 - 64570986 64578766 - 64803514 64811294 - 1581203;1601326;1601327;1580863;2317273;2317335;2317303;2317327;2317340;2317314;2317319;2317331;2317334;2317360;2317341;2317354;2317292;2317294;2317313;2317351;2317288;2317293;2317347;619590;2317310;2317277;6480464;7240710;8554872;8699517;9479053 11295574;11302744;12030908;12036912;12917331;12941803;15944766;16465412;16563611;16840830;17135306;17278096;17623761;17766710;17854391;17953629;17975067;18045958;18300794;18549467;19170121;19208834;19620250;20138042;22663077;9215690 10090472;10500243;10534569;10647896;10709111;10879731;11027505;11134142;11274402;11369988;11500056;11526476;11740047;11765049;11765051;11836268;11903322;11956591;12050235;12112656;12145286;12169273;12203793;12213668;12226747;12324758;12417605;12459032;12477932;12505253;12509449;12649288;12746426;12837246;12874027;12915685;14508515;14516745;14559791;14985373;14992727;15026366;15031321;15034196;15054094;15070966;15150273;15199122;15205994;15240620;15254225;15256779;15281352;15292357;15331604;15374998;15489334;15563473;15635078;15640349;15670192;15754732;15960975;16199523;16239140;16324211;16368411;16510874;16510875;16595707;16604156;16618927;16651450;16690369;16951149;16997566;17047380;17050672;17138574;17179192;17188139;17194968;17353931;17356705;17388795;17500065;17526943;17555499;17555500;17671196;17766243;17803708;17823710;17853334;17879353;17940620;18026121;18029348;18036394;18082152;18084346;18206547;18249304;18310293;18314630;18398822;18435740;18524795;18598942;18601604;18616711;18636154;18752793;18775714;18779856;19011561;19068082;19074834;19079338;19294466;19309299;19351817;19391077;19407509;19474519;19596783;19654304;1968641;19749796;19818711;19837273;19847644;19913121;20058152;20064463;20093773;20301710;20453000;20480190;20507346;20566584;20616437;20628086;20669561;20706287;20710116;20961854;20969866;21078971;21127195;21139048;21184284;21252315;21264250;21266030;21318185;21378168;21627674;21678021;21726266;21768215;21819486;21830623;22026581;22090276;22187299;22275377;22327296;22409234;22490989;22522645;22542456;22543820;22584706;22666734;22761894;22797925;22825745;22829075;22878668;22936661;22939629;23027861;23093699;23188049;23224434;23321498;23334809;23391111;23435440;23579270;23648481;23652667;23788249;23850066;23905891;24074368;24101467;24157940;24178797;24276465;24302194;24439903;24457600;24563463;24778252;24816145;24920291;24930734;25099597;8938448;9103196;9215689;9241276;9253601;9341881;9361035;9463336;9465067;9498491;9554741;9671267;9683585;9740255;9747036;9792884;9832038;9843042;9888389;9989505 4221 E7EN32;E7ENS2;E7EPR4;E7ET29;O00255;Q9GZQ5 AA877856;ABBA01024141;ABBA01024142;ABBA01024143;ABBA01024144;AJ132593;AJ132594;AJ132596;AJ297485;AJ297486;AJ297487;AJ297488;AJ297489;AMYH02024942;AP001462;AY306001;BC002544;BC002664;BE267140;CH471076;EF443091;EF443092;EF443093;EF443094;EF443095;EF443096;EF443097;NG_008929;NM_000244;NM_130799;NM_130800;NM_130801;NM_130802;NM_130803;NM_130804;U93236;U93237;XM_005274001;XM_005274002;XM_005274003;XM_006718557;Y12338 AAC51228;AAC51229;AAC51230;AAH02544;AAH02664;AAP74572;ABM81683;ABQ12621;ABQ12622;ABQ12623;ABQ12624;ABQ12625;ABQ12626;ABQ12627;CAA73007;CAC14129;CAC14130;CAC14131;CAC14132;CAC14133;EAW74303;EAW74304;EAW74305;EAW74306;EAW74307;EAW74308;EAW74309;EAW74310;EAW74311;EAW74312;EAW74313;EAW74314;EAW74315;NP_000235;NP_570711;NP_570712;NP_570713;NP_570714;NP_570715;NP_570716;O00255;XP_005274058;XP_005274059;XP_005274060;XP_006718620 Hs.423348 1651599;1801804;1805088;1805918;1806048;1806498;1806854;1806922;1807334;1807410;1807482;1807526;1808486;1810308;1812614;1812706;1814532;1816606;1817832;1822212;1823488;1831144;1832506;1833726;1839194;1840134;1842956;1843010;1971268;1971270;1971272;1971274;1971276;1971278;1971280;1971282;1971284;1971286;1971288;1971290;1971292;1971294;1971296;1971298;1971300;1971302;1971304;1971306;1971308;1971310;1971312;1971314;1971316;1971318;1971320;1971322;1971324;1971326;1971328;1971330;1971332;1971334;1971336;1971338;1971340;1971342;1971344;1971346;1971348;1971350;1971352;1971354;1971356;1971358;1971360;1971362;1971364;1971366;1971368;1971370;1971372;1971374;1971376;1971378;1971380;1971382;1971384;1971386;1971388;1971390;1971392;1971394;1971396;1971400;1971402;1971404;1971406;1971408;1971410;1971412;1971414;1971416;1971418;1971420;1971422;1971424;1971428;1971430;1971432;1971434;1971436;1971438;1971440;1971442;1971444;1971446;1971448;1971450;1971454;1971456;1971458;1971460;1971462;1971464;1971466;1971468;1971470;1971474;1971476;1971478;1971480;1971482;1971484;1971488;1971490;1971492;1971494;1971496;1971500;1971502;1971504;1971506;1971508;1971510;1971512;1971514;1971516;1971518;1971520;1971522;1971524;1971526;1971528;1971530;1971532;1971534;1971536;1971538;1971540;1971542;1971544;1971546;1971548;1971554;2115997;2133818;2214938;2214940;2214942;2214944;2214946;2214948;2214950;2214952;2214954;2214956;2214958;2214960;2214962;2214964;2214966;2214968;2214970;2214972;2214974;2214976;2214978;2214980;2214982;2214984 A007D15;D11S1080;D11S4946;ECD01783;ECD03486;ECD03912;ECD03977;ECD04206;ECD04392;ECD04426;ECD04638;ECD04676;ECD04713;ECD04735;ECD05225;ECD06146;ECD07317;ECD07364;ECD08296;ECD09345;ECD09970;ECD12192;ECD12835;ECD16708;ECD17392;ECD18008;ECD20777;ECD21251;ECD22686;ECD22713;REN56517;REN56518;REN56519;REN56520;REN56521;REN56522;REN56523;REN56524;REN56525;REN56526;REN56527;REN56528;REN56529;REN56530;REN56531;REN56532;REN56533;REN56534;REN56535;REN56536;REN56537;REN56538;REN56539;REN56540;REN56541;REN56542;REN56543;REN56544;REN56545;REN56546;REN56547;REN56548;REN56549;REN56550;REN56551;REN56552;REN56553;REN56554;REN56555;REN56556;REN56557;REN56558;REN56559;REN56560;REN56561;REN56562;REN56563;REN56564;REN56565;REN56566;REN56567;REN56568;REN56569;REN56570;REN56571;REN56572;REN56573;REN56574;REN56575;REN56576;REN56577;REN56578;REN56579;REN56580;REN56581;REN56583;REN56584;REN56585;REN56586;REN56587;REN56588;REN56590;REN56591;REN56592;REN56593;REN56594;REN56595;REN56596;REN56598;REN56599;REN56600;REN56601;REN56602;REN56603;REN56604;REN56605;REN56606;REN56607;REN56608;REN56609;REN56611;REN56612;REN56613;REN56614;REN56615;REN56616;REN56617;REN56618;REN56619;REN56621;REN56622;REN56623;REN56624;REN56625;REN56626;REN56628;REN56629;REN56630;REN56631;REN56632;REN56634;REN56635;REN56636;REN56637;REN56638;REN56639;REN56640;REN56641;REN56642;REN56643;REN56644;REN56645;REN56646;REN56647;REN56648;REN56649;REN56650;REN56651;REN56652;REN56653;REN56654;REN56655;REN56656;REN56657;REN56658;REN56661;stSG635700;stSG635701;stSG635702;stSG635703;stSG635704;stSG635705;stSG635708;stSG635709;stSG635710;stSG635711;stSG635713;stSG635714;stSG635715;stSG635716;stSG635717;stSG635719;stSG635720;stSG635721;stSG635722;stSG635723;stSG635724;stSG635725;stSG635726;stSG635728 MEAI;SCG2 OTTHUMP00000042868;OTTHUMP00000070175;OTTHUMP00000070176;OTTHUMP00000070180;OTTHUMP00000070181;OTTHUMP00000070182;OTTHUMP00000070184;endocrine adenomatosis, multiple;menin;multiple endocrine neoplasia 1 APPROVED protein-coding ENSG00000133895 HGNC:7010 00564 131100;613733 REVIEWED 737385 MEP1B meprin A, beta Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011] 18 18 18 q12.2-q12.3 26576994 26607343 + 29769987 29800367 + 32190024 32220404 + 1580863;6480464;8554872 11267665;11278902;12093806;12387727;12399461;12477932;12556482;12941954;14968112;16095909;17195012;19748582;20379614;20631730;20806899;20953144;21646356;22879596;22940918;24114056;24239627;24258247;24474695;7710697;7774936;8063866;8262185;8660687;8760356;8939981;9288916;9914532 4225 J3KRK1;J3QKX5;Q16820 ABBA01022489;AC011825;AC015563;AMYH02034520;AY695931;BC136559;BC144244;CH471088;NM_005925;X81333;XM_005258275 AAI36560;AAI44245;AAU05377;CAA57107;EAX01284;EAX01285;NP_005916;Q16820;XP_005258332 Hs.194777 1695682;1729926;1774521;5019337 D18S1025;D18S47;MARC_7239-7240:996687677:1;SHGC-78721 N-benzoyl-L-tyrosyl-P-amino-benzoic acid hydrolase subunit beta;N-benzoyl-L-tyrosyl-p-amino-benzoic acid hydrolase beta subunit;PABA peptide hydrolase;PPH beta;endopeptidase-2;meprin A subunit beta;meprin B APPROVED protein-coding ENSG00000141434 HGNC:7020 02667 600389 VALIDATED 1321194 MESDC2 mesoderm development candidate 2 ENCODES a protein that exhibits low-density lipoprotein particle receptor binding (inferred); INVOLVED IN protein folding (ortholog); FOUND IN endoplasmic reticulum (inferred); plasma membrane (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; methyl methanesulfonate 15 15 15 q13 58205577 58219691 - 81239667 81282235 - 80975754 80989864 - 1580863;6480464 10508479;10737800;11247670;12168954;12477932;12581525;12975309;15489334;15917269;16989816;19746449;21337463;21397183;21832049;21900206;21907199;22190034;23469146;24250222;24816145;7788527 23184 H0YLI4;Q14696 ABBA01060632;ABBA01060633;AC068870;AK026606;AK301416;AMYH02030891;AY359110;BC007867;BC009210;BC012746;BE004295;CH471136;CS185566;D42039;NM_015154 AAH09210;AAH12746;AAQ89468;BAA07640;BAG62946;CAJ42747;EAW99109;EAW99110;NP_055969;Q14696 Hs.578450;Hs.732380 1771018;2114717;2153027;2169521 D15S894;RH17444;RH25309;WI-13829 BOCA;KIAA0081;MESD LDLR chaperone MESD;mesoderm development protein;renal carcinoma antigen NY-REN-61 protein-coding ENSG00000117899 HGNC:13520 12129 607783 VALIDATED 1606451 MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2 This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008] 15 15 15 q26.1 66722377 66724773 + 90319589 90321985 + 89776358 89778754 + 6480464;7240710;8554872;8699517 11578861;12477932;14516699;15122512;16996494;18485326;20301533;20301771;20687255;22744456;24250222 145873 H0YKZ5;Q0VG99 ABBA01053024;AC079075;AL360139;AMYH02031027;BC111413;BK000142;NG_008608;NM_001039958 AAI11414;DAA00304;NP_001035047;Q0VG99 Hs.37311 1778579 STS-W74095 SCDO2;bHLHc6 class C basic helix-loop-helix protein 6;mesoderm posterior 2 homolog;mesoderm posterior protein 2 APPROVED protein-coding ENSG00000188095 HGNC:29659 605195;608681 REVIEWED 1605813 MESTP1 mesoderm specific transcript pseudogene 1 6 6 6 q22-q23 129995170 129997621 - 129248901 129251361 - 128927756 128930216 - 338470 ABBA01025918;AL445439;AMYH02014463;NG_002694;NG_008678 APPROVED pseudo HGNC:29660 INFERRED 4110191 MESTP2 mesoderm specific transcript pseudogene 2 15 15 15 37233372 37234230 - 60345406 60346264 - 60053207 60054065 - 100421572 ABBA01038954;AC009654;AMYH02030550;NG_025325 APPROVED pseudo HGNC:18208 INFERRED 3231977 MESTP3 mesoderm specific transcript pseudogene 3 4 4 4 p15.1 29275271 29276207 - 28824869 28825805 - 28823247 28824183 - 645641 ABBA01032754;AC096566;AMYH02008955;NG_022008 APPROVED pseudo HGNC:38553 INFERRED 1603631 MESP1 mesoderm posterior basic helix-loop-helix transcription factor 1 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; INVOLVED IN cardiac atrium formation; cardiac muscle cell differentiation; cardiac vascular smooth muscle cell differentiation; FOUND IN nucleus (inferred); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 3-methylcholanthrene; all-trans-retinoic acid 15 15 15 q26.1 66695858 66697300 - 90293098 90294540 - 89749867 89751309 - 6480464 11578861;12477932;15342556;18297060;22826236;24056064;24250222;8787751 55897 Q9BRJ9;Q9NSF0 ABBA01053019;AC079075;AL357533;AL357534;AL357535;AL357570;AL357571;AMYH02031026;BC006219;BP212916;CH471101;NM_018670 AAH06219;ABZ92404;CAB93425;CAB93426;CAB93427;EAX02066;NP_061140;Q9BRJ9 Hs.447531 1770372 RH11209 MGC10676;bHLHc5 OTTHUMP00000194686;class C basic helix-loop-helix protein 5;mesoderm posterior 1 homolog;mesoderm posterior protein 1 APPROVED protein-coding HGNC:29658 10070 608689 VALIDATED 1323243 MESDC1 mesoderm development candidate 1 INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cobalt dichloride 15 15 15 q13 58230781 58233831 + 81293295 81296345 + 81000954 81004004 + 6480464 11247670;12477932;15146197;15489334;16989816;19322201;22179486 59274 Q9H1K6 ABBA01060633;AC068870;AMYH02030891;AY007810;BC001373;BC084554;CH471136;CN370100;DN995580;NM_022566 AAG41058;AAH84554;EAW99108;NP_072088;Q9H1K6 Hs.513071 1696916;1788716 RH101926;RH136635 MGC99595 OTTHUMP00000185570 protein-coding HGNC:13519 11300 615466 VALIDATED 1354193 MESTIT1 MEST intronic transcript 1, antisense RNA This gene encodes a non-protein coding antisense RNA that is imprinted, and preferentially expressed from the paternal allele. It is located in an intron of MEST gene in the opposite orientation, and shares the promoter region in common with one of the promoters (P2) of MEST gene. The antisense RNA is expressed predominantly in testis and mature motile spermatozoa, suggesting that it may be involved in the regulation of MEST expression during development.[provided by RefSeq, Oct 2010] 7 7 7 q32.2 124922670 124926785 - 130126898 130131291 - 130487057 130491172 - 11821432;12095916;12746419;14962666 317751 ABBA01057587;AC007938;AF482998;AMYH02016755;CH236950;NR_004382 Hs.627349 MEST-AS1;MEST-IT;MEST-IT1;NCRNA00040;PEG1-AS APPROVED ncrna HGNC:17991 607794 REVIEWED 1345318 MEST mesoderm specific transcript This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011] 7 7 7 q32 124921818 124941908 + 130126016 130146138 + 130486175 130506297 + 6480464;8554872 10554015;10631159;10679925;10860668;10955473;10958657;11536368;11718568;11754049;11821432;11920156;12023987;12095916;12477932;12690205;12754712;15146197;15547750;16338457;16344560;17192395;17353931;17450433;18029348;18585117;18644838;18676680;19019082;19170196;19199708;19625176;19692168;20301499;20339302;20628624;21575949;21832049;21900206;21988832;22249249;22456293;22531794;23209187;23229728;23343754;23415968;23775149;8884280;9158153;9192843;9526615;9781054 4232 A4D1L9;B4DQW6;C9JCM6;C9JG66;C9JRA9;C9JSW2;C9JUD2;C9JW74;C9JWU9;Q5EB52;R4GN52 AA728839;AB045582;ABBA01057587;AC007938;AK098397;AK298984;AK312688;AMYH02016755;AU118070;BC002413;BC011908;BC014564;BC018695;BC090049;BG831799;BI459412;BT007056;CH236950;CH471070;CN425918;CR457040;CR627364;D78611;D87367;DA487705;DB454206;DC367784;NG_009226;NM_001253900;NM_001253901;NM_001253902;NM_002402;NM_177524;NM_177525;Y11534 AAH02413;AAH11908;AAH14564;AAH18695;AAH90049;AAP35705;ABM81688;ABM83690;ABM84851;ABM87003;BAA11432;BAA21757;BAC02716;BAG35568;BAG61078;CAA72297;CAG33321;CAH10465;EAL24086;EAL24087;EAW83765;EAW83766;EAW83767;NP_001240829;NP_001240830;NP_001240831;NP_002393;NP_803490;NP_803491;Q5EB52 Hs.270978 1847069;2138856;2218754 COPG2_4062;GDB:3755019;RH12524 DKFZp686L18234;MGC111102;MGC8703;PEG1 OTTHUMP00000210358;OTTHUMP00000210359;OTTHUMP00000210360;OTTHUMP00000210361;OTTHUMP00000210362;OTTHUMP00000210364;OTTHUMP00000210367;mesoderm specific transcript homolog;mesoderm-specific transcript homolog protein;paternally expressed gene 1;paternally-expressed gene 1 protein APPROVED protein-coding ENSG00000106484 HGNC:7028 06776 601029 REVIEWED 1605558 METAP1D methionyl aminopeptidase type 1D (mitochondrial) The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008] 2 2 2 q31.1 166481016 166561688 + 172864804 172947158 + 171999897 172080859 + 6480464 12477932;14532271;14702039;16568094;19913121;20379614;20628086;20877624;23535729;24654937 254042 Q6UB28 ABBA01020733;ABBA01020734;AC015976;AC114745;AK093827;AMYH02005227;AMYH02005228;AY374142;BC029123;BC113644;BC143913;CH471058;CQ819354;DQ005576;NM_199227 AAI13645;AAR27795;AAY55948;CAG34354;EAX11188;EAX11189;EAX11190;EAX11191;NP_954697;Q6UB28 Hs.298250 MAP 1D;MAP1D;MetAP 1D;Metap1l CDS of metAP-3 within PCR fragment;OTTHUMP00000163125;methionine aminopeptidase 1D, mitochondrial;methionyl aminopeptidase type 1D, mitochondrial;peptidase M 1D APPROVED protein-coding HGNC:32583 17462 610267 VALIDATED 1353878 METRN meteorin, glial cell differentiation regulator Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 965338 967645 + 765173 769655 + 715173 717480 + 6480464 11157797;12477932;14702039;15085178;15489334;15616553 79006 H3BSC8;H3BUM1;I3L2T3;J3KMW6;Q9UJH8 ABBA01030353;AE006464;AK057053;AK308711;AL360260;AMYH02031205;BC000662;CH471112;CS179964;HB435052;JC181135;NM_024042;Z97653 AAH00662;AAK61247;CAL15420;CAZ68030;CDM21925;EAW85747;EAW85748;NP_076947;Q9UJH8 Hs.533772;Hs.732288 2116206 RH36609 C16orf23;MGC2601;c380A1.2 OTTHUMP00000045518;meteorin APPROVED protein-coding HGNC:14151 14388 610998 VALIDATED 731631 MERTK MER proto-oncogene, tyrosine kinase This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008] 2 2 2 q14.1 106258379 106389184 - 112656056 112797293 + 111898479 112039716 + 1582496;1580863;6480464;7240710;8699517;8554872 15130911 10343112;11062461;11727200;12477932;12768229;12920122;15111602;15146197;15188402;15231748;15479819;15673687;15733062;16288044;16335952;16675557;16710167;16837475;17005688;17047157;17626743;18039660;18174230;18246816;18250462;18395422;18587056;18620092;18815424;18922854;19204785;19403518;19541935;19922767;19953087;20098747;20130272;20300561;20301590;20379614;20538656;20546121;20591486;20637106;20654219;20664904;20801516;20959443;20978472;21139048;21347448;21384080;21496228;21542987;21677792;21792939;21833088;21890473;21906983;21987572;22053931;22180149;22363695;22469987;22841784;22890323;22939624;22942426;22997156;23000965;23065156;23390493;23474756;23585477;23617806;23662598;23835724;24939420;7688222;8086340;8621659;8702477;8889548;8939948;9891051 10461 E9PD22;E9PHX8;H7C3L9;Q12866 ABBA01005789;ABBA01005790;ABBA01005791;ABBA01005792;AC093675;AC104651;AF366903;AK026681;AK294196;AK308695;AK316584;AL705756;AMYH02004577;AMYH02004578;AMYH02004579;AMYH02004580;AW627665;BC114917;BC114918;BM719997;BX474860;CA454601;CH471245;CN371299;CN371300;D16316;NG_011607;NM_006343;U08023;XM_005263565;XM_005263568 AAB60430;AAI14918;AAI14919;AAK54121;AAX93144;AAY24213;BAA03823;BAG38172;BAG57511;EAW52096;EAW52097;NP_006334;Q12866;XP_005263622;XP_005263625 Hs.306178 1298183;1667507;1710532;1712891;1764927;1776548;1777244;1784106;2110887;2123265;2129616;5120718;5491816;7184429 D14S1201;D2S1896;D2S1987;D2S212E;GDB:372731;MERTK;RH121080;RH70546;SHGC-148485;SHGC-153615;SHGC-37233;SHGC-86295;STS-U08023 MER;MGC133349;RP38;c-mer MER receptor tyrosine kinase;OTTHUMP00000161952;OTTHUMP00000203538;STK kinase;c-mer proto-oncogene tyrosine kinase;proto-oncogene c-Mer;receptor tyrosine kinase MerTK;tyrosine-protein kinase Mer APPROVED protein-coding ENSG00000153208 HGNC:7027 05269 604705;613862 REVIEWED 1313634 METAP1 methionyl aminopeptidase 1 ENCODES a protein that exhibits aminopeptidase activity (inferred); hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN platelet aggregation; FOUND IN cytoplasm (inferred); cytosol (inferred); cytosolic ribosome (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cobalt dichloride; fumagillin 4 4 4 q23 97214261 97281435 + 99916788 99983960 + 98995637 99062809 + 1580863;6480464 12144506;12477932;14532271;15231748;15489334;15592455;15635413;16274222;16344560;16386852;17114291;17353931;17929833;19898482;20379614;20521764;21139048;21906983;21963094;23767698;24163370;24654937;25027693;7788527 23173 D6RF24;H0Y903;H0Y955;H0Y9L0;H0YAI3;P53582 ABBA01063668;AC019131;AK304239;AK309465;AMYH02009795;BC030054;CH471057;CR936632;D42084;DA178462;NM_015143;XM_005262867;XM_005262868 AAH30054;BAA07679;BAG65108;CAI56775;EAX06082;EAX06083;NP_055958;P53582;XP_005262924;XP_005262925 Hs.480364 1645836;1686608;1769782;2120299;2127148;2169725;2172608 D4S3163;G33395;RH17446;RH91583;SHGC-59276;SHGC-59522;SHGC-59855 DKFZp781C0419;KIAA0094;MAP 1;MAP1A;MetAP1A;metAP 1 OTTHUMP00000219920;methionine aminopeptidase 1;peptidase M 1 protein-coding ENSG00000164024 HGNC:15789 10071 610151 VALIDATED 3132381 MESTP4 mesoderm specific transcript pseudogene 4 3 3 3 p24.1 29065716 29066767 + 29128837 29131107 + 29087346 29089616 + 22747683 131572 ABBA01024972;AC097361;AMYH02006464;NG_028940 APPROVED pseudo HGNC:38554 INFERRED 1352209 METTL1 methyltransferase like 1 This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008] 12 12 12 q13 57819946 57823509 - 58162254 58165914 - 57768471 57772131 - 1580863;6480464 10329009;12403464;12477932;12539042;15489334;15861136;16189514;18029348;19525955;19692168;19913121;20394945;20628086;21890473;21906983;22863883;22939629;23000965;23349634;7566098;8125298 4234 F8VSD9;H0YHU4;H0YHX0;H0YIH0;Q9UBP6 AA317248;ABBA01026694;AC025165;AI168455;AK223202;AK314851;AMYH02026593;BC000550;BG420288;BQ651940;CH471054;NG_007076;NM_005371;NM_023033;W56190;X96698;XM_005268873;Y18642;Y18643 AAH00550;BAD96922;BAG37368;CAA65470;CAA77238;CAA77239;EAW97066;EAW97069;EAW97070;EAW97071;NP_005362;NP_075422;Q9UBP6;XP_005268930 Hs.42957 1848538 A007H24 C12orf1;FLJ95748;TRM8;TRMT8;YDL201w D1075-like gene product;OTTHUMP00000196422;OTTHUMP00000196423;methyltransferase-like 1;methyltransferase-like protein 1;tRNA (guanine(46)-N(7))-methyltransferase;tRNA (guanine-N(7)-)-methyltransferase;tRNA(m7G46)-methyltransferase APPROVED protein-coding ENSG00000037897 HGNC:7030 06834 604466 REVIEWED 1604914 METTL10 methyltransferase like 10 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; copper atom 10 10 10 q26.13 120221319 120254368 - 126434336 126480439 - 124758837 124791870 - 6480464 12477932;14702039;16385451;21906983;23251661 399818 G3V238;M0QZ67;Q5JPI9;Q8TC28 ABBA01034149;ABBA01034150;ABBA01034151;ABBA01034152;AC068896;AF318345;AK022354;AL832292;AMYH02023978;AMYH02023979;AMYH02023980;AMYH02023981;AMYH02023982;AX405699;BC026167;CH471066;NM_212554 AAH26167;AAL55852;CAD34806;CAI46179;EAW49258;NP_997719;Q5JPI9 Hs.741365 1698204;2162102 D10S1451;RH102638 C10orf138;Em:AC068896.3;FLJ13019 OTTHUMP00000020696;methyltransferase-like protein 10 protein-coding HGNC:33787 14216 VALIDATED 2304141 METTL12 methyltransferase like 12 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH methyl methanesulfonate; paracetamol; quercetin 11 11 11 q12.3 59762357 59764501 + 62432725 62434923 + 62665234 62668108 + 6480464;8554872 12477932;15489334;16368877;16554811;17154719 751071 A8MUP2 ABBA01003235;AK297138;AMYH02024896;AP001458;BC041359;BC147001;BC147011;BG676615;BX348415;BY796224;NM_001043229;XM_005274232 A8MUP2;AAI47002;AAI47012;BAH12507;NP_001036694;XP_005274289 Hs.640726 5015861;5037552;7185938 D10S16;D8S2279 U99HG OTTHUMP00000236144;Putative methyltransferase LOC751071, mitochondrial;methyltransferase LOC751071, mitochondrial-like;methyltransferase-like protein 12, mitochondrial protein-coding HGNC:33113 VALIDATED 1604624 METTL13 methyltransferase like 13 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; paracetamol 1 1 1 q24-q25.3 144860163 144876258 + 171750761 171766856 + 171781621 171797716 + 6480464 10048485;10810093;12168954;12477932;14702039;15489334;16341674;16710414;17353931;21139048;21145461;21890473;21906983;21963094;22053931;22355534;22505724;22939629;24816145;25027693;8125298 51603 B4E2X3;C4B4C6;Q8N6R0 AB020666;AB242174;AB242175;ABBA01027923;ABBA01027924;AF132936;AK001172;AK027552;AK027621;AK027886;AK074552;AK094818;AK124482;AK129561;AK223493;AK291740;AK304471;AL031864;AL049669;AMYH02002144;BC006814;BC029083;BI091265;BM833930;BX094025;CH471067;JB734812;NM_001007239;NM_014955;NM_015935;XM_005245256 AAD27711;AAH06814;AAH29083;BAA74882;BAB55240;BAC11055;BAD97213;BAF84429;BAG50862;BAG51342;BAG51390;BAG65285;BAH58098;BAH58099;CAB41243;CDI30188;EAW90911;EAW90912;EAW90913;EAW90914;NP_001007240;NP_055770;NP_057019;Q8N6R0;XP_005245313 Hs.494705 2118470;2142956;2163512;5016478;5022450;5022651;5114937 A008C33;D10S275;D11S2921;GDB:434012;RH78865;SHGC-75891;SHGC-75916 5630401D24Rik;CGI-01;FLJ10310;KIAA0859;feat OTTHUMP00000032874;OTTHUMP00000032999;OTTHUMP00000033000;antiapoptotic protein FEAT;methyltransferase-like protein 13 protein-coding ENSG00000010165 HGNC:24248 13821 VALIDATED 1348183 METRNL meteorin, glial cell differentiation regulator-like ENCODES a protein that exhibits hormone activity (ortholog); INVOLVED IN brown fat cell differentiation (ortholog); fat cell differentiation (ortholog); negative regulation of inflammatory response (ortholog); FOUND IN extracellular vesicular exosome; extracellular space (ortholog); INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 17 17 17 q25.3 77634605 77649087 + 81037567 81052867 + 83079691 83095122 + 6480464 12477932;14702039;19199708 284207 I3L0R0;Q641Q3 A75737;ABBA01019714;ABBA01019715;AC127518;AC130371;AC144831;AF086149;AK093748;AMYH02034177;AMYH02034178;AMYH02034179;BC050568;BC082252;BC118558;BC118638;CH471099;HC434525;JC214343;NM_001004431;XM_005256349;XM_006725291 AAH50568;AAH82252;AAI18559;AAI18639;BAG52757;CAB58552;CBJ57243;CDM22127;EAW89833;NP_001004431;Q641Q3;XP_005256406;XP_006725354 Hs.378821 1697480;2158700 RH102241;SHGC-56898 MGC99788 meteorin-like protein;subfatin protein-coding ENSG00000176845 HGNC:27584 11255 PROVISIONAL 732103 METAP2 methionyl aminopeptidase 2 This gene is a member of the methionyl aminopeptidase family and encodes a protein that binds 2 cobalt or manganese ions. This protein functions both by protecting the alpha subunit of eukaryotic initiation factor 2 from inhibitory phosphorylation and by removing the amino-terminal methionine residue from nascent protein. Increased expression of this gene is associated with various forms of cancer and the anti-cancer drugs fumagillin and ovalicin inhibit the protein by irreversibly binding to its active site. A pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Jul 2008] 12 12 12 q22 95538718 95580736 + 95867822 95909615 + 95474046 95515839 + 1580863;6480464 10388536;11123929;11485930;11994292;12118091;12477932;12581743;12718546;14532271;14702039;15102683;15126329;15336565;15489334;15544353;15782160;15814649;15840729;15962312;16160854;16267007;16274222;16386852;16632353;16790550;17446530;18264137;18337751;18781797;18828628;18850631;19446321;19703310;20521764;20689807;21139048;21832049;21890473;21906983;21937698;21963094;22505724;22863883;23000965;23161775;24041691;24816145;7644482;7738010;7873610;8098621;8858118;9177176;9812898;9860943 10988 B4DUX5;F8VQZ7;F8VRR3;F8VSC4;F8VY03;F8VZX9;G3V1U3;P50579 ABBA01053335;ABBA01053336;AC018475;AK055692;AK091730;AK125296;AK300836;AK315559;AMYH02026980;BC013782;BC016008;CH471054;DW409106;NM_006838;U13261;XM_005268583 AAC63402;AAH13782;AAH16008;ABM81939;ABM85119;BAC03733;BAG37935;BAG54178;BAG62487;EAW97537;EAW97538;EAW97539;NP_006829;P50579;XP_005268640 Hs.444986 1669514;1671061;1686656;1690752;1736250;1856912;2124156;2127911;2134411;2174182 D12S1183E;D12S1199E;D12S1806;RH39871;RH46408;RH92290;SGC31600;SHGC-64320;STS-N33173;WI-21736 MAP 2;MAP2;MNPEP;metAP 2;p67;p67eIF2 OTTHUMP00000243392;OTTHUMP00000243393;OTTHUMP00000243394;OTTHUMP00000243395;OTTHUMP00000243398;OTTHUMP00000243399;eIF-2-associated p67 homolog;initiation factor 2-associated 67 kDa glycoprotein;methionine aminopeptidase 2;peptidase M 2 APPROVED protein-coding ENSG00000111142 HGNC:16672 03522 601870 REVIEWED 1605185 METTL15P1 methyltransferase like 15 pseudogene 1 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog); paracetamol (ortholog) 3 3 3 q25.31 154852536 154856162 - 156429192 156432818 - 156711403 156715029 - 6480464 100130758 P0C7V9 ABBA01058839;AC106708;AMYH02007973;CH471052;NG_011761 EAW78723;P0C7V9 METT5D2 APPROVED pseudo HGNC:31926 INFERRED 1604216 METTL15 methyltransferase like 15 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; copper(2+) sulfate 11 11 11 p14.1 28275664 28500176 + 28129798 28355054 + 28108251 28352308 + 6480464 12477932;14702039;16344560;21145461;21890473;23251661;24250222 196074 A6NJ78;B5MC64;F8WD83 ABBA01060956;ABBA01060957;ABBA01060958;ABBA01060959;AC023206;AC087376;AC104978;AJ011598;AJ131606;AK091298;AL832668;AMYH02024510;AMYH02024511;BC030997;BC066900;BC105287;CH471064;DA800481;DB327106;DB458698;NM_001113528;NM_001297775;NM_152636;XM_005252809;XM_006718162;XM_006718163;XM_006718164;XM_006718165;XM_006718166 A6NJ78;AAH30997;AAI05288;BAC03631;EAW68266;EAW68267;EAW68268;EAW68269;NP_001107000;NP_001284704;NP_689849;XP_005252866;XP_006718225;XP_006718226;XP_006718227;XP_006718228;XP_006718229 Hs.243326;Hs.539002;Hs.684649 1662298;1679664;1773993;1847447;2120492;2158912;2165284;2183606;5019745 A009N46;G32693;RH38920;RH66431;RH68038;SHGC-33830;SHGC-36288;SHGC-64847;WI-16368 FLJ33979;METT5D1 OTTHUMP00000197377;OTTHUMP00000197378;OTTHUMP00000197379;methyltransferase 5 domain containing 1;methyltransferase 5 domain-containing protein 1;probable S-adenosyl-L-methionine-dependent methyltransferase METT5D1;probable methyltransferase-like protein 15;putative S-adenosyl-L-methionine-dependent methyltransferase METT5D1 APPROVED protein-coding ENSG00000169519 HGNC:26606 08750 VALIDATED 1601929 METTL11B methyltransferase like 11B ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH lead diacetate (ortholog) 1 1 1 q24.2 143225003 143246729 + 170115188 170136923 + 170146047 170167782 + 6480464;8554872 12477932;16710414;19901119 149281 Q5VVY1 ABBA01027944;AL445203;AMYH02002120;BC157860;BC171858;NM_001136107 AAI57861;AAI71858;NP_001129579;Q5VVY1 Hs.553612 1775970 AL009846 C1orf184;HOMT1B;NTM1B OTTHUMP00000034162;X-Pro-Lys N-terminal protein methyltransferase 1B;alpha N-terminal protein methyltransferase 1B;methyltransferase-like protein 11B protein-coding ENSG00000203740 HGNC:31932 VALIDATED 5128570 METTL15P3 methyltransferase like 15 pseudogene 3 X X X p22.11 26574644 26575861 + 22453715 22454932 + 22435598 22436815 + 729650 ABBA01072078;AMYH02039013;BX294437;NG_022648 2169187 DXS8181 pseudo HGNC:39558 INFERRED 1603373 METTL18 methyltransferase like 18 ENCODES a protein that exhibits protein methyltransferase activity (inferred); INVOLVED IN protein methylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; benzo[a]pyrene diol epoxide I 1 1 1 q24.2 142871462 142873823 - 169761670 169764088 - 169792529 169794920 - 6480464;8554872 12477932;15489334;16169070;16710414;17207965;19064610;19536175;20864530;21900206;23349634;24816145 92342 O95568;Q5TI78 ABBA01027946;AK313909;AL021940;AL035369;AL556604;AMYH02002117;AY744366;BC008679;CH471067;CR450330;NM_033418;XM_005245606;XM_006711627 AAH08679;AAU95377;ADQ32334;BAG36632;CAA23019;CAG29326;EAW90861;EAW90862;NP_219486;O95568;XP_005245663;XP_006711690 Hs.33922 1645514;1656700;5093896 A009Y28;AL009882;G32987 AsTP2;C1orf156;HPM1;MGC9084;RP1-117P20.4 OTTHUMP00000033956;OTTHUMP00000033958;arsenic-transactivated protein 2;histidine protein methyltransferase 1 homolog;hypothetical protein MGC9084;methyltransferase-like protein 18 APPROVED protein-coding ENSG00000171806 HGNC:28793 14713 615255 VALIDATED 5128571 METTL15P2 methyltransferase like 15 pseudogene 2 12 12 12 q14.1 59108747 59109610 - 59447102 59447965 - 59053321 59054184 - 644915 ABBA01026681;AC068305;AMYH02026611;NG_021691 pseudo HGNC:39559 INFERRED 1602640 METTL20 methyltransferase like 20 ENCODES a protein that exhibits protein methyltransferase activity (inferred); INVOLVED IN protein methylation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4',5-pentachlorobiphenyl (ortholog) 12 12 12 p11.21 11622361 11644279 + 31800094 31822016 + 31647160 31669082 + 6480464 12477932;16344560;17207965;22948820;23349634 254013 F5H481;G5EA40;Q8IXQ9 ABBA01031743;ABBA01031744;AC023157;AC068774;AK290248;AL832339;AMYH02026282;AMYH02026283;BC039107;BC039417;BC039535;CH471116;DA303137;NM_001135863;NM_001135864;NM_173802;XM_006719060 AAH39107;AAH39535;ADQ33124;BAF82937;EAW88545;EAW88546;EAW88547;EAW88548;NP_001129335;NP_001129336;NP_776163;Q8IXQ9;XP_006719123 Hs.740628 1727425;1761059;1767747;2153618;2163568;5015861;5022450;5022588;7185938 D10S16;D10S275;D5S1597E;G62970;RH11230;SHGC-145009;SHGC-56513;WI-20441 C12orf72;MGC50559 OTTHUMP00000240053;OTTHUMP00000240054;OTTHUMP00000240055;OTTHUMP00000240056;hypothetical protein LOC254013;methyltransferase-like protein 20 APPROVED protein-coding ENSG00000139160 HGNC:28739 14666 615256 VALIDATED 1604299 METTL16 methyltransferase like 16 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN methylation (inferred); INTERACTS WITH disodium selenite; formaldehyde; lead(0) 17 17 17 p13.3 2335440 2431686 - 2319343 2415200 - 2416049 2511906 - 6480464 12477932;14702039;16344560;17643375;18021804;20602751;21832049;22939629;24816145;7698749 79066 B7Z3X7;I3L362;I3L3W3;I3L4V1;K7EKQ8;Q86W50 ABBA01054705;ABBA01054706;ABBA01054707;ABBA01054708;ABBA01054709;AC006435;AC015799;AK027410;AK294547;AK296464;AL832612;AMYH02032773;AMYH02032774;AMYH02032775;AMYH02032776;AMYH02032777;AMYH02032778;BC001213;BC050603;BX647255;CH471108;DB227557;KC877629;NM_024086;XM_005256801;XR_429822 AAH01213;AAH50603;BAB55094;BAH11803;BAH12363;CAD89999;EAW90537;EAW90538;EAW90539;NP_076991;Q86W50;XP_005256858 Hs.632237 1649557;1729564;1734444;1734464;1736638;1746069;1746075;1746079;2120390;5037552;7184717 D17S1413E;D17S1430E;D17S1478E;D17S2111;D17S379;D8S2279;G54859;G54860;G54862;WI-13902 METT10D;MGC3329 methyltransferase 10 domain containing;methyltransferase 10 domain-containing protein;methyltransferase-like protein 16;putative methyltransferase METT10D APPROVED protein-coding ENSG00000127804 HGNC:28484 14556 VALIDATED 5132551 METTL21AP1 methyltransferase like 21A pseudogene 1 21 21 21 25804964 25805583 - 40607327 40607946 - 39235401 39236020 - 100421629 ABBA01009346;AF129408;AMYH02037825;NG_025044;NG_029919 1810370;1810714;1816784;1897934;1897936;1897938;1897940;1897942;1897944;1897946;1897948;1897950;1897952;1897954;1897956;1897958 ECD06177;ECD06352;ECD09437;REN19760;REN19761;REN19762;REN19763;REN19764;REN19765;REN19766;REN19767;REN19768;REN19769;REN19770;REN19771;REN19772 pseudo HGNC:41921 INFERRED 1601980 METTL17 methyltransferase like 17 ENCODES a protein that exhibits copper ion binding (inferred); methyltransferase activity (inferred); INVOLVED IN methylation (inferred); translation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); ribosome (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; disodium selenite 14 14 14 q11.2 1318833 1326059 + 21457432 21465194 + 20989806 20997035 + 6480464;8554872 11278769;12477932;16189514;16713569;17207965;18029348;20186120;20877624;21900206;22990118;24137763;24654937;24778252;24816145 64745 B4E298;G3V353;G3V3X6;G3V4H5;G3V4P2;H0YJW1;Q9H7H0 ABBA01061237;AF321002;AF321003;AK024512;AK303484;AK304180;AK315999;AL355922;AMYH02028826;BC005053;BG437086;CH471078;HI574204;HI574206;NM_001029991;NM_022734;U56431;XM_006720235;XM_006720236;XM_006720237 AAH05053;AAK08200;AAK08201;ADQ31778;BAB14919;BAG64520;BAG65060;BAH14370;CBX47591;CBX47592;EAW66432;EAW66433;EAW66434;NP_001025162;NP_073571;Q9H7H0;XP_006720298;XP_006720299;XP_006720300 Hs.512693 1682207;2158861;2170117 D6S1417;RH25166;SHGC-24064 FLJ20859;METT11D1 OTTHUMP00000028294;OTTHUMP00000164258;false p73 target gene protein;methyltransferase 11 domain containing 1;methyltransferase 11 domain-containing protein 1;methyltransferase-like protein 17, mitochondrial;protein RSM22 homolog, mitochondrial APPROVED protein-coding ENSG00000165792 HGNC:19280 13379 VALIDATED 1604024 METTL21B methyltransferase like 21B ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); FOUND IN intracellular; INTERACTS WITH cisplatin; disodium selenite 12 12 12 q14.1 57823978 57833935 + 58166383 58176324 + 57772600 57782541 + 6480464 11076863;11256614;12477932;15489336;16381901;19322201;20190274;22948820;23349634 25895 F8VZI8;F8W226;Q96AZ1 ABBA01026694;AC025165;AF455816;AK024983;AK292276;AL050100;AMYH02026593;AMYH02026594;AMYH02026595;BC016395;BC099841;BC103501;CH471054;NM_015433;NM_206914 AAH16395;AAH99841;AAI03502;AAL66294;BAB15049;BAF84965;CAB43271;CAL38120;CAL38637;EAW97072;EAW97073;EAW97074;NP_056248;NP_996797;Q96AZ1 Hs.632720 1678041;1856037;2126516 RH45049;RH91309;SHGC-37617 DKFZp586D0919;FAM119B OTTHUMP00000243870;OTTHUMP00000243872;OTTHUMP00000243873;family with sequence similarity 119, member B;hepatocellular carcinoma-associated antigen 557a;hepatocellularcarcinoma-associated antigen HCA557a;hypothetical protein LOC25895;methyltransferase-like protein 21B;protein-lysine methyltransferase METTL21B APPROVED protein-coding ENSG00000123427 HGNC:24936 08532 615258 VALIDATED 1606433 METTL21C methyltransferase like 21C ENCODES a protein that exhibits protein-lysine N-methyltransferase activity; INVOLVED IN peptidyl-lysine methylation; protein methylation; FOUND IN nucleus (inferred); INTERACTS WITH chloroprene (ortholog) 13 13 13 q33.1 84180440 84189196 - 103338097 103346871 - 102685747 102694521 - 6480464 12477932;23349634 196541 Q5VZV1 ABBA01027071;AL158063;AMYH02028625;BC132748;BC132750;BX089441;CH471085;NM_001010977 AAI32749;AAI32751;ADR83125;EAX09060;EAX09061;EAX09062;NP_001010977;Q5VZV1 Hs.508623 1677058;1726471 G62615;RH45836 C13orf39 OTTHUMP00000018663;hypothetical protein LOC196541;methyltransferase-like protein 21C;protein-lysine methyltransferase METTL21C APPROVED protein-coding ENSG00000139780 HGNC:33717 17315 615259 VALIDATED 1605646 METTL14 methyltransferase like 14 ENCODES a protein that exhibits mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity; INVOLVED IN mRNA methylation; mRNA destabilization (ortholog); stem cell maintenance (ortholog); FOUND IN MIS complex; nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; ethyl methanesulfonate 4 4 4 q26 116967249 116992643 + 119606525 119633374 + 118685370 118712219 + 6480464 10997877;12477932;14702039;17207965;20332099;21139048;21906983;22939629;24316715;24816145 57721 D6RBL4;D6RD73;Q9HCE5 AB046847;ABBA01044692;ABBA01044693;AC110079;AK055555;AK296056;AMYH02009984;BC006565;BC007449;CH471229;NM_020961;XM_005263166;XM_006714283 AAH06565;AAH07449;ADQ32728;BAB13453;BAB70954;BAG58819;EAW73651;EAW73652;NP_066012;Q9HCE5;XP_005263223;XP_006714346 Hs.657806 1769436;1775472;2151813 SHGC-24254;SHGC-50843;SHGC-7036 KIAA1627 N6-adenosine-methyltransferase subunit METTL14;OTTHUMP00000219836;OTTHUMP00000219837;methyltransferase-like protein 14 protein-coding ENSG00000145388 HGNC:29330 13879 PROVISIONAL 2298732 METTL23 methyltransferase like 23 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); ASSOCIATED WITH Depressed nasal bridge (inferred); Flat occiput (inferred); Global developmental delay (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); INTERACTS WITH indometacin; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q25.1 71315319 71322335 + 74722912 74729962 + 76726056 76733880 + 6480464;8699517;8554872 12477932;15146197;16344560;21900206;23349634 124512 K7EJ00;K7EL83;K7EMR3;K7ENU9;K7EPR8;K7EPT5;K7ERS2;K7ESG7;Q86XA0;Q8N712 ABBA01028731;AC005837;AMYH02034021;BC033998;BC045819;BC106939;BF575183;BI819093;BI829268;BU176249;BU182031;BX403283;CH471099;CN372746;DA094787;DA685885;JQ313903;NM_001080510;NM_001206983;NM_001206984;NM_001206985;NM_001206986;NM_001206987;NR_038193;XM_006721672;XM_006721673;XM_006721674;XM_006721675;XM_006721676;XM_006721677;XM_006721678;XM_006721679;XM_006721680 AAH33998;AAH45819;AFH41797;EAW89435;EAW89437;EAW89438;NP_001073979;NP_001193912;NP_001193913;NP_001193914;NP_001193915;NP_001193916;Q86XA0;XP_006721735;XP_006721736;XP_006721737;XP_006721738;XP_006721739;XP_006721740;XP_006721741;XP_006721742;XP_006721743 Hs.74655 1852762 RH11488 C17orf95;MRT44 hypothetical protein LOC124512;methyltransferase-like protein 23 APPROVED protein-coding ENSG00000181038 HGNC:26988 615262;615942 VALIDATED 1343913 METTL24 methyltransferase like 24 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular region (inferred) 6 6 6 q21 111313748 111426096 - 110566666 110679475 - 110245946 110358272 - 8554872 728464 Q5JXM2 ABBA01026119;ABBA01026120;AL050350;AL445068;AMYH02014285;AMYH02014286;NM_001123364 NP_001116836;Q5JXM2 Hs.722171 1703538;1726397;2133995 D6S1302;G62499;SHGC-82730 C6orf186;FLJ45203;dJ71D21.2 D-aspartate oxidase-like;OTTHUMP00000017000;UPF0624 protein C6orf186;chromosome 6 open reading frame 186;methyltransferase-like protein 24 APPROVED protein-coding ENSG00000053328 HGNC:21566 INFERRED 5490883 METTL21EP methyltransferase like 21E, pseudogene ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH chloroprene (ortholog) 13 13 13 q33.1 84376936 84392873 + 103532449 103548383 + 102880099 102896033 + 6480464 14702039;19773279 121952 A6NDL7 ABBA01027069;AK096424;AL137246;AL157769;AMYH02028627;NR_026965 A6NDL7 Hs.660773 1336803;1650388;2190213;5022578;7186116 99-79427;D13S280;D1S1423;RH47429 METTL21CP1 APPROVED pseudo ENSG00000250878 HGNC:41948 PROVISIONAL 1602087 METTL25 methyltransferase like 25 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; cadmium dichloride 12 12 12 q21.31 82419836 82540592 + 82752276 82873018 + 82358497 82479239 + 6480464 11329013;12477932;14702039;15489334;16344560;20379614;21832049 84190 F8VZA8;H0YIN2;H0YIW7;Q8N6Q8 ABBA01053471;AC083811;AC089998;AK026442;AK310231;AMYH02026848;BC029120;BG186273;CH471054;DB059865;KF570265;NM_032230;XM_005269184;XM_005269185;XM_005269186;XM_006719636;XM_006719637 AAH29120;BAB15484;EAW97381;EAW97382;NP_115606;Q8N6Q8;XP_005269241;XP_005269242;XP_005269243;XP_006719699;XP_006719700 Hs.506222 1685736;1723861;1858470 RH118666;RH46448;RH98258 C12orf26;FLJ22789 OTTHUMP00000243351;hypothetical protein LOC84190;methyltransferase-like protein 25;uncharacterized protein C12orf26 APPROVED protein-coding ENSG00000127720 HGNC:26228 10979 VALIDATED 1601800 METTL2A methyltransferase like 2A ENCODES a protein that exhibits tRNA (cytosine) methyltransferase activity (ortholog); INVOLVED IN tRNA methylation (ortholog); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 17 17 17 q23.2 54888315 54914521 + 60501246 60527454 + 62423885 62450093 + 6480464 11042152;11738826;12477932;14702039;15342556;15489334;16344560;16625196;19322201;21139048;21900206;21906983;24816145 339175 B3KM33;Q96IZ6 ABBA01035354;ABBA01035355;AC008026;AF161384;AF161385;AK000991;AK022822;AMYH02033762;BC006985;BF975211;BP255803;CH471109;DA027807;NM_181725 AAF28944;AAF28945;AAH06985;ADZ15687;BAB14260;BAG50845;EAW94353;NP_859076;Q96IZ6 Hs.381204 1684176;1684499;1700302;1778788;2219922;5016240;5021872;5022200;5022450;5022578;5022588;5024039 D10S275;D16S325;D1S1423;D5S1597E;GDB:4585159;L18426;METTL2__6308;RH103771;RH69392;RH69532;RH78397;sY3084 FLJ12760;METTL2 methyltransferase-like protein 2A protein-coding ENSG00000087995 HGNC:25755 07795 VALIDATED 1348378 METTL3 methyltransferase like 3 This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryotic mRNAs, forming N6-methyladenosine. [provided by RefSeq, Jul 2008] 14 14 14 q11.1 1829623 1842799 - 21966282 21979517 - 21498138 21511315 - 1580863;6480464;8554872 11470232;12355263;12477932;12508121;14702039;15489334;16964243;21139048;21963094;22797925;22939629;24209618;9409616 56339 B4DTN4;B4E349;F5H6D8;H0YFV6;Q86U44 ABBA01061255;AE000658;AF014837;AF283991;AK000222;AK093509;AK097873;AK098655;AK300289;AK304251;AK304570;AL161747;AMYH02028842;BC001650;BC003031;BC014427;BC052244;BX247964;CH471078;NG_001332;NM_019852;XM_006720206 AAB71850;AAG13956;AAH01650;AAH03031;AAH52244;ABZ92354;BAG52732;BAG62046;BAG65118;BAG65361;CAD62303;EAW66379;NP_062826;Q86U44;XP_006720269 Hs.168799 1645047;2126076;2128688;5015961 D15S1477;RH44762;SHGC-36315;SHGC-64027 IME4;M6A;MGC4336;MT-A70;Spo8 N6-adenosine-methyltransferase 70 kDa subunit;OTTHUMP00000239551;adoMet-binding subunit of the human mRNA (N6-adenosine)-methyltransferase;mRNA m(6)A methyltransferase;methyltransferase-like protein 3 APPROVED protein-coding ENSG00000165819 HGNC:17563 14389 612472 REVIEWED 1346719 METTL4 methyltransferase like 4 ENCODES a protein that exhibits methyltransferase activity (inferred); nucleic acid binding (inferred); INVOLVED IN methylation (inferred); nucleobase-containing compound metabolic process (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; cyclosporin A; potassium chromate 18 18 18 p11.32 2412830 2446793 - 2537524 2571489 - 2537525 2571490 - 737633;6480464 12477932 14702039;15489334;16341674;21139048;23834954;8889548 64863 I3L0Y1;I3L3W2;I3L4A0;J3KNJ7;Q8N3J2;V9GYU3 ABBA01049830;ABBA01049831;AK022584;AK026670;AK290001;AL834296;AMYH02034212;AP005136;BC056270;BC111020;BC136766;BC136767;BI489580;BI771801;BM828675;BU741018;BX647373;CH471113;NM_022840;XM_005258132;XM_005258133;XM_006722339;XR_243813 AAH56270;AAI11021;AAI36767;AAI36768;BAB15520;BAF82690;CAD38969;EAX01698;NP_073751;Q8N3J2;XP_005258189;XP_005258190;XP_006722402 Hs.126888 1699902;1717627;2114128;2125524 AB046105;RH103559;RH122118;RH48981 FLJ23017;HsT661;MGC117235 OTTHUMP00000162205;methyltransferase-like protein 4 protein-coding ENSG00000101574 HGNC:24726 14390 VALIDATED 1601964 METTL22 methyltransferase like 22 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cyclosporin A; formaldehyde; lead(0) 16 16 16 p13.2 8883593 8908224 + 8715497 8740079 + 8621640 8646222 + 6480464 12477932;14702039;23349634;24140279;24250222 79091 H3BSA9;H3BTF5;H3BTI6;H3BTR2;H3BV20;I3L2J5;I3L3I8;I3L483;Q9BUU2 ABBA01019724;AC007224;AC138420;AK022495;AK315383;AMYH02031402;AMYH02031403;AMYH02031404;AY203956;BC001908;BC103725;CH471112;KF456157;NM_024109;XM_005255570;XM_005255571;XM_005255572;XR_243304;XR_243305 AAH01908;AAP34479;BAB14058;BAG37776;EAW85210;EAW85211;EAW85212;NP_077014;Q9BUU2;XP_005255627;XP_005255628;XP_005255629 Hs.306380 1669854 WI-21012 C16orf68;FLJ12433;LP8272;MGC2654 OTTHUMP00000160106;hypothetical protein LOC79091;methyltransferase-like protein 22 APPROVED protein-coding ENSG00000067365 HGNC:28368 08324 615261 VALIDATED 1605295 METTL6 methyltransferase like 6 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); PARTICIPATES IN histidine metabolic pathway; tyrosine metabolic pathway; INTERACTS WITH atrazine; cisplatin; cyclosporin A 3 3 3 p25.1 15389607 15407274 - 15422782 15469054 - 15381275 15427547 - 6480464;6907045 12477932;14702039;15489334;18759275;21906983;22118674 131965 B4DDX3;H7C1L4;H7C3H9;M0R0W0;Q8TCB7 ABBA01025141;AC027125;AK027185;AK057791;AK293370;AMYH02006331;BC022400;BG701912;BI913767;BU183521;CA430635;CH471055;CX872865;NM_001301790;NM_001301791;NM_001301792;NM_152396;XM_005264867;XM_005264869;XM_005264870;XM_006712969;XM_006712970;XM_006712971;XM_006712972;Z44406 AAH22400;ABM82944;ABM86134;BAB71574;BAG56884;EAW64232;EAW64233;NP_001288719;NP_001288720;NP_001288721;NP_689609;Q8TCB7;XP_005264924;XP_005264926;XP_005264927;XP_006713032;XP_006713033;XP_006713034;XP_006713035 Hs.149487 1788696;2157108;5015861;5037552;7185938 D10S16;D8S2279;RH135807;SHGC-76744 MGC24132 OTTHUMP00000209876;OTTHUMP00000210874;OTTHUMP00000210877;methyltransferase-like protein 6 protein-coding ENSG00000206562 HGNC:28343 14494 VALIDATED 1602980 METTL21A methyltransferase like 21A ENCODES a protein that exhibits ATPase binding; Hsp70 protein binding; protein-lysine N-methyltransferase activity; INVOLVED IN peptidyl-lysine methylation; protein methylation; FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 2 2 2 q33.3 202237420 202251254 - 208473839 208490652 - 207609115 207625928 - 6480464 12477932;14702039;23183491;23349634;23824909;23921388;24529757 151194 C9JES0;C9JSX1;H7BXH9;Q8WXB1 ABBA01062680;ABBA01062681;ABBA01062682;ABBA01062683;AC079767;AF455817;AK093812;AMYH02005644;AMYH02005645;BC009462;BC033720;BG832122;CH471063;NM_001127395;NM_145280;XM_005246336;XM_005246337;XM_005246338;XM_005246339;XM_005246340;XM_005246341;XM_006712327;XM_006712328;XM_006712329 AAH09462;AAH33720;AAL66295;AAX93175;BAC04229;EAW70411;EAW70412;EAW70413;EAW70414;EAW70415;EAW70416;EAW70417;NP_001120867;NP_660323;Q8WXB1;XP_005246393;XP_005246394;XP_005246395;XP_005246396;XP_005246397;XP_005246398;XP_006712390;XP_006712391;XP_006712392 Hs.664764 1941836;1941838;5015861;5020274;5022578;5037552;5037670;7185938 D10S16;D1S1423;D3S4354;D8S2279;L18441;REN41760;REN41761 FAM119A;HCA557b;HSPA-KMT;MGC45373 HSPA lysine methyltransferase;OTTHUMP00000163862;OTTHUMP00000206647;OTTHUMP00000206648;OTTHUMP00000206651;OTTHUMP00000206652;family with sequence similarity 119, member A;heat shock protein 70kDa lysine (K) methyltransferase;hepatocellular carcinoma-associated antigen 557b;hypothetical protein LOC151194;methyltransferase-like protein 21A;protein N-lysine methyltransferase METTL21A;protein-lysine methyltransferase METTL21A APPROVED protein-coding ENSG00000144401 HGNC:30476 14090 615257 VALIDATED 1350099 METTL2B methyltransferase like 2B This gene is a member of a family of methyltransferases that share homology with, but are distinct from, the UbiE family of methyltransferases. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 7 7 7 q32.1 122919873 122946301 + 128116783 128142978 + 128476729 128502924 + 6480464;6907045;8554872 11042152;11738826;12477932;12975309;14702039;15342556;15489334;16625196;21139048;21832049;21906983;21963094 55798 F8WAS9;H7C2C8;H7C552;Q6P1Q9 ABBA01057669;ABBA01057670;AC010655;AC090114;AK002212;AK125539;AK299960;AK302775;AMYH02016716;AY358237;BC064929;BC107586;BC121115;BC121116;BP247182;NM_018396 AAH64929;AAI07587;AAI21116;AAI21117;AAQ88604;BAA92136;BAG61786;BAG63980;NP_060866;Q6P1Q9 Hs.433213 1684176;1684499;2219922;5015861;5016240;5016478;5020414;5021872;5022578;5024039;5109281;7185938 D10S16;D16S325;D1S1423;D1S1425;GDB:434012;GDB:4585159;L17688;METTL2__6308;RH69392;RH69532;sY3084 FLJ11350;FLJ12760;METL;METTL2;METTL2A;PSENIP1 OTTHUMP00000184916;OTTHUMP00000212398;methyltransferase-like protein 2B APPROVED protein-coding ENSG00000165055 HGNC:18272 09705 607846 REVIEWED 7247007 METTL7AP1 methyltransferase like 7A pseudogene 1 12 12 52622491 52627065 - 52228707 52233281 - 100996686 ABBA01140646;AC021066;AMYH02026499 pseudo HGNC:48874 MODEL 1603260 METTL7B methyltransferase like 7B ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; pirinixic acid 12 12 12 q13.2 55727803 55730867 + 56075330 56078395 + 55681546 55684611 + 6480464;8554872 12477932;12975309;15489334;17004324;21103663;21139048 196410 Q6UX53 ABBA01008384;AC009779;AK290112;AMYH02026548;AY358508;BC020509;CH471054;NM_152637 AAQ88872;BAF82801;EAW96818;NP_689850;Q6UX53 Hs.51483 1644637;1710586;1855839;2153247 RH11299;SHGC-82400;STS-X74295;WI-16635 ALDI;MGC17301 OTTHUMP00000202178;associated with lipid droplets 1;methyltransferase-like protein 7B protein-coding ENSG00000170439 HGNC:28276 14458 VALIDATED 8549324 METTL8P1 methyltransferase like 8 pseudogene 1 12 12 12 p12.3 20552618 20553701 - 15407674 15408757 - 15254740 15255823 - 728996 ABBA01067890;AC022334;AMYH02026098;NG_007062 pseudo HGNC:49856 INFERRED 1606016 METTL5 methyltransferase like 5 ENCODES a protein that exhibits methyltransferase activity (inferred); nucleic acid binding (inferred); protein methyltransferase activity (inferred); INVOLVED IN methylation (inferred); protein methylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; atrazine 2 2 2 q31.1 164284639 164297724 - 170668267 170681439 - 169811757 169824929 - 6480464;8554872 11042152;12477932;14702039;15489334;15815621;21139048;21890473;21906983;21963094 29081 B8ZZC8;B8ZZE3;B8ZZY8;E7EMN2;F5H4E8;H0YFV5;H7C0M7;Q9NRN9 ABBA01014899;ABBA01014900;AC009967;AF161482;AF201938;AK001321;AL523293;AMYH02005195;AMYH02005196;BC000921;BC093014;CA337169;CH471058;NM_001293186;NM_001293187;NM_014168;XM_005246478;XM_005246479;XM_006712458 AAF29097;AAF86874;AAH00921;AAH93014;AAY14869;BAA91622;EAX11252;EAX11253;EAX11254;EAX11255;NP_001280115;NP_001280116;NP_054887;Q9NRN9;XP_005246535;XP_005246536;XP_006712521 Hs.470553 1679746;2174216;5113234 D2S2569;RH12569;RH68407 FLJ10459;HSPC133 OTTHUMP00000205104;OTTHUMP00000205105;OTTHUMP00000205106;OTTHUMP00000205107;OTTHUMP00000205108;OTTHUMP00000205109;methyltransferase-like protein 5 protein-coding ENSG00000138382 HGNC:25006 VALIDATED 1625811 MEX3A mex-3 RNA binding family member A ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; calcitriol; copper atom 1 1 1 q22 129114865 129124850 - 156041804 156051789 - 156072013 156081998 - 6480464 12477932;14702039;17267406;18779327 92312 A1L020 ABBA01016672;AK024097;AK095491;AK125482;AL355388;AMYH02001961;AMYH02001962;AY950677;BC033283;CX873216;NM_001093725 A1L020;AAY34145;NP_001087194 Hs.591496 2135031;2182619 RH47365;RH48986 MEX-3A;RKHD4 OTTHUMP00000233099;RING finger and KH domain-containing protein 4;RNA-binding protein MEX3A;ring finger and KH domain containing 4;ring finger and KH domain containing protein APPROVED protein-coding ENSG00000254726 HGNC:33482 611007 VALIDATED 1601879 METTL7A methyltransferase like 7A ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 1-nitropyrene; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 12 12 12 q13.12 50120003 50127771 + 51317780 51326300 + 50923811 50932517 + 6480464 12477932;12975309;14702039;15489334;17207965;17342744;18781797;19322201;21139048;21890473;21906983;21963094;8125298 25840 F8VQX6;H0YI09;Q9H8H3 ABBA01031589;AC008121;AF113007;AJ536233;AK023693;AK024409;AK130665;AK225595;AK225689;AK293356;AK307071;AL050159;AMYH02026474;AX883145;AY358797;BC004492;BC008180;BM805242;CH471111;CS072370;NM_014033;XM_006719332 AAF20268;AAH04492;AAH08180;AAQ89157;ACE87066;ACE87748;ADQ31657;BAB14643;BAB14913;BAG56872;CAB43300;CAD60207;CAE91852;CAI93508;EAW58154;EAW58155;EAW58156;NP_054752;Q9H8H3;XP_006719395 Hs.711113;Hs.744021 1658804;1768882;1772208;1772210;2147003;2185670;5014063;5024756 A006H14;Cdy0bc04;D12S1922;D15S1390;G20804;RH68506;RH80030;WI-12477 AAM-B;DKFZp586A0522 methyltransferase-like protein 7A protein-coding ENSG00000185432 HGNC:24550 13179 VALIDATED 1321562 MEX3D mex-3 RNA binding family member D ENCODES a protein that exhibits AU-rich element binding; poly(A) RNA binding; FOUND IN nucleus; perinuclear region of cytoplasm; INTERACTS WITH arsenous acid; atrazine; bisphenol A 19 19 19 p13.3 1489519 1502909 - 1554668 1568057 - 1554669 1568058 - 6480464 12477932;14769789;15489334;17267406;18779327;19322201;21139048 399664 Q86XN8;S4R446 AB062435;AB107353;ABBA01002661;ABBA01002662;AC005943;AC027307;AF458084;AMYH02035154;AY950680;BC113384;BC113741;CB218195;CB218196;CH471139;DQ225272;DQ225273;NM_001174118;NM_203304;XM_006726771 AAI13385;AAI13742;AAQ04763;AAY34148;ABB04031;ABB04032;BAB93498;BAC67658;EAW69483;NP_001167589;NP_976049;Q86XN8;XP_006726834 Hs.436495 KIAA2031;MEX-3D;MEX3;OK/SW-cl.4;RKHD1;RNF193;TINO OTTHUMP00000197230;OTTHUMP00000197231;RING finger and KH domain-containing protein 1;RING finger protein 193;RNA-binding protein MEX3D;bcl-2 ARE RNA binding protein;ring finger (C3HC4 type) and KH domain containing 1;ring finger and KH domain containing 1 APPROVED protein-coding ENSG00000181588 HGNC:16734 15254 611009 VALIDATED 1319133 MEX3C mex-3 RNA binding family member C This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009] 18 18 18 q21.2 45557653 45580784 - 48700920 48724051 - 51174550 51197681 - 737633;1580863;6480464 12477932 14702039;15489334;16177791;17015768;17267406;18029348;18779327;19322201;20379614;21906983;22610502;22658931;22863774;24706898;24816145 51320 K7ER23;Q5U5Q3 ABBA01018687;ABBA01018688;ABBA01018689;AC090330;AF208855;AK096190;AL833519;AMYH02034715;AMYH02034716;AW079942;AY950679;BC032952;BC041122;BC063244;BC153820;CH471096;NG_015801;NM_016626 AAF64269;AAH41122;AAI46417;AAI48856;AAI53821;AAY34147;BAG53227;EAW62989;NP_057710;Q5U5Q3 Hs.465144 2109761;2152709 NIB1810;RKHD2_9704 BM-013;FLJ38871;MEX-3C;RKHD2;RNF194 OTTHUMP00000163545;RING finger and KH domain-containing protein 2;RING finger protein 194;RNA-binding E3 ubiquitin-protein ligase MEX3C;RNA-binding protein MEX3C;ring finger and KH domain containing 2 APPROVED protein-coding ENSG00000176624 HGNC:28040 15255 611005 REVIEWED 1346735 MF4 metacarpal 4-5 fusion ASSOCIATED WITH Leukemia, Lymphocytic, Chronic, B-Cell (inferred); METACARPAL 4-5 FUSION (inferred) 7240710 4235 HGNC:7031 309630;609630 1605633 METTL8 methyltransferase like 8 ENCODES a protein that exhibits histone acetyltransferase activity (inferred); methyltransferase activity (inferred); INVOLVED IN fat cell differentiation (inferred); histone acetylation (inferred); methylation (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; calcitriol 2 2 2 q31.1 165790476 165907900 - 172173912 172291312 - 171317402 171434802 - 6480464 12477932;14702039;15992539;17207965;21832049;22745009;24250222;24816145 79828 A8K7U3;B3KW44;B4DLT0;B5ME25;C9J3F1;C9J6U8;C9JE69;E7ETE0;H7C2P8;Q9H825 ABBA01020722;ABBA01020723;ABBA01020724;ABBA01020725;AC007739;AC007969;AC008065;AI129960;AK023396;AK024046;AK055616;AK093218;AK124092;AK292108;AK297141;AMYH02005221;AMYH02005222;AMYH02005223;BC025250;CH471058;DC349499;KF459614;NM_024770;XM_006712762;XM_006712763;XM_006712764;XM_006712765 AAH25250;AAX93077;AAX93284;ADQ32256;BAB14797;BAF84797;BAG54006;BAG59642;EAX11214;EAX11215;EAX11216;EAX11217;NP_079046;Q9H825;XP_006712825;XP_006712826;XP_006712827;XP_006712828 Hs.135146 1644461;5015619;5015861;5015961;5016596;5020635;5022578;5022639;5037552;5109281;5117897;5118444;5491557;7185938 D10S16;D11S2808;D11S3114;D11S3316;D15S1477;D1S1423;D1S1425;D7S3207;D8S2279;GDB:631802;GDB:631813;MARC_17695-17696:1031748757:1;STS-AA041295 FLJ13334;FLJ13984;FLJ31054;FLJ42098;FLJ77788;TIP OTTHUMP00000163093;OTTHUMP00000163094;OTTHUMP00000163095;OTTHUMP00000200296;methyltransferase-like protein 8;tension-induced/inhibited protein protein-coding ENSG00000123600 HGNC:25856 07845 609525 VALIDATED 1602890 METTL9 methyltransferase like 9 INTERACTS WITH benzo[a]pyrene; bisphenol A; copper atom 16 16 16 p12.2 21292599 21350540 + 21608543 21668792 + 21597221 21657473 + 6480464 10810093;11132146;11329013;12477932;16303743;16413759;16730941;16837177;20237496;21139048;21963094;8889548 51108 H3BM54;H3BN86;H3BPE9;H3BQD2;H3BRP5;H3BTS9;Q9H1A3 ABBA01008651;ABBA01008652;AC005632;AC092719;AC241400;AC241409;AF151839;AI096621;AJ278577;AJ278578;AJ278581;AK025565;AK074529;AK075022;AK075237;AK313077;BC000195;BG183771;BM149762;BU621488;BX647201;CF146931;CH878403;CQ782469;CQ783008;NM_001077180;NM_001288659;NM_001288660;NM_016025;XM_006721049 AAD34076;AAH00195;BAC11042;BAC11356;BAC11490;BAG35903;CAC20437;CAC20438;CAC20439;CAF85755;CAF86217;EAW50517;EAW50518;EAW50519;EAW50520;EAW50521;EAW50522;NP_001070648;NP_001275588;NP_001275589;NP_057109;Q9H1A3;XP_006721112 Hs.279583 1649254;1649939;1685848;1685986;1687185;1777911;2133593;2133595;2187550;5014051;5017691;5022200 A001Z18;D6S1405;D8S2278;G19815;L18426;METTL9;RH41956;RH65112;RH77714;RH80447;SHGC-60716;SHGC-61128 CGI-81;DREV;DREV1;FLJ21912;PAP1 DORA reverse strand protein 1;OTTHUMP00000162337;methyltransferase-like protein 9;p53 activated protein 1 protein-coding ENSG00000197006 HGNC:24586 16839 609388 VALIDATED 1346115 MEX3B mex-3 RNA binding family member B This gene encodes an RNA-binding phosphoprotein that is part of the MEX3 (muscle excess 3) family of translational regulators. The encoded protein contains N-terminal nuclear export and nuclear localization signals and is exported from the cytoplasm to the nucleus. The protein binds to RNA via two KH domains and also colocalizes with MEX3A, Dcp1A decapping factor and Argonaute proteins within P (processing) bodies. [provided by RefSeq, Oct 2012] 15 15 15 q25.2 59273384 59277617 - 82334119 82338484 - 82041778 82046143 - 737633;1580863;6480464 12477932 11076863;11230166;11256614;14702039;15489334;15489336;15761153;16169070;16381901;17267406;18029348;18779327;19079261;20531441;21139048;21900206;21906983;22082156;22645275;24250222;24326307;24816145 84206 Q6ZN04 AA442153;AB095929;ABBA01060646;AC026956;AK094145;AK094633;AK131424;AL136778;AMYH02030903;AMYH02030904;AY950678;BC036211;BC111545;CH471136;HY013949;NM_032246 AAH36211;AAI11546;AAY34146;BAC23105;BAD18571;CAB66712;CAL37893;CAL38674;EAW99090;NP_115622;Q6ZN04 Hs.104744;Hs.745180 1678917;1698772;2122740 G31454;RH102949;RH92966 DKFZp434J0617;MEX-3B;MGC117199;RKHD3;RNF195 OTTHUMP00000190867;RING finger and KH domain-containing protein 3;RING finger protein 195;RNA-binding protein MEX3B;ring finger and KH domain containing 3 APPROVED protein-coding ENSG00000183496 HGNC:25297 15256 611008 REVIEWED 1322643 MFAP3L microfibrillar-associated protein 3-like FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 4 4 4 q32.3 168240037 168279718 - 170907748 170948371 - 169986597 170032078 - 737633;1580863;6480464 12477932 15489334;21139048;21890473;21906983;21963094;23000965;24735981;9734811 9848 D6R9L7;D6RAB5;D6RCC0;D6RCF0;D6RDM6;D6RGZ8;O75121 AB014526;ABBA01070343;AC084866;AF327560;AK290041;AK308263;AMYH02010486;AW015769;AY391838;BC001279;BC031941;BC066912;BI459190;BM552945;CH471056;DA324165;DA412844;DB026038;NM_001009554;NM_001301647;NM_001301648;NM_021647;NR_125890;XM_005263366;XM_005263368;XM_005263369;XM_005263370;XM_005263371;XM_006714423;XM_006714424;XM_006714425;XM_006714426;XM_006714427;XM_006714428 AAH01279;AAH66912;AAK15700;AAS55434;AAY41028;AAY41029;BAA31601;BAF82730;EAX04773;EAX04774;EAX04775;NP_001009554;NP_001288576;NP_001288577;NP_067679;O75121;XP_005263423;XP_005263425;XP_005263426;XP_005263427;XP_005263428;XP_006714486;XP_006714487;XP_006714488;XP_006714489;XP_006714490;XP_006714491 Hs.593942;Hs.733667 1650383;1682413;1683691;1686122;1772898;1850303;2139714;5093118 A009G24;G32530;RH92002;RH92235;SHGC-17377;SHGC-24761;SHGC-30654;SHGC-67275 NYD-sp9 OTTHUMP00000219353;OTTHUMP00000219354;OTTHUMP00000219390;OTTHUMP00000219393;OTTHUMP00000219394;testis development protein NYD-SP9 protein-coding ENSG00000198948 HGNC:29083 14391 VALIDATED 5129399 MFAP1P1 microfibrillar-associated protein 1 pseudogene 1 13 13 13 q12.3 12185113 12186367 - 31115780 31117034 - 30541643 30542897 - 646755 ABBA01035694;AL353648;AMYH02027799;NG_011532 2113396 D13S1762 pseudo HGNC:39694 INFERRED 70824 MET MET proto-oncogene, receptor tyrosine kinase The proto-oncogene MET product is the hepatocyte growth factor receptor and encodes tyrosine-kinase activity. The primary single chain precursor protein is post-translationally cleaved to produce the alpha and beta subunits, which are disulfide linked to form the mature receptor. Various mutations in the MET gene are associated with papillary renal carcinoma. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q31 111119882 111245969 + 116312406 116438440 + 116672357 116798386 + 1600122;1600123;1600124;70557;1580863;1642762;2299174;2317613;2317505;2317526;2317534;2317601;2317487;2317495;2317532;2317574;2317235;2317441;2317559;2317467;2317469;2317493;2317515;2317546;2317547;2317555;2317520;2317530;2317513;2317516;2317606;2317607;2317605;2317575;2317582;2317554;2317564;2317585;2317612;2317578;5133243;5133242;5133241;5490965;6480464;6484113;6907045;7240710;8548617;8548616;8548612;8548613;8554872;8699517 10489112;10590366;11719459;11737224;11830493;11956651;12114431;14656942;14685170;15448002;15892172;16818635;16827730;16958060;16982975;17009398;17053076;17065554;17113948;17154373;17311762;17405187;17549731;17940345;18175071;18194445;18208800;19506583;19956499;20019837;20519133;20662906;20848408;20951313;21277552;22704061;7639332;7693339;7866999;8077049;8781331;8997394;9140397;9211490;9308731;9815967;9927037 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AUTS9;HGFR;RCCP2;c-Met;cMet HGF receptor;HGF/SF receptor;OTTHUMP00000024917;OTTHUMP00000069168;SF receptor;hepatocyte growth factor receptor;mesenchymal-epithelial transition factor;met proto-oncogene tyrosine kinase;oncogene MET;proto-oncogene c-Met;scatter factor receptor;tyrosine-protein kinase Met APPROVED protein-coding ENSG00000105976 HGNC:7029 01280 114550;164860;605074 REVIEWED 1314413 MFAP2 microfibrillar-associated protein 2 Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 1 1 1 p36.1-p35 15623335 15630419 - 17300997 17308081 - 16974502 16981586 - 6480464;6484113 10664011;11284693;11481325;11723132;11796718;12477932;12878157;15044481;15233806;15489334;16492672;16710414;17692555;19182256;20881960;21540769;21946350;22534017;22885067;23201136;23284291;23563607;3015971;7759096;8125298;8761465;9278443 4237 P55001 ABBA01000261;ABBA01000262;AJ009948;AK222751;AK301655;AL049569;AMYH02000387;AMYH02000388;AU280150;BC015039;BC028033;CH471134;CR407678;DN996554;NG_029688;NM_001135247;NM_001135248;NM_002403;NM_017459;U19718;U19719 AAA79920;AAH15039;ABM86468;ABW03655;BAD96471;BAH13532;CAG28606;EAW94818;EAW94819;EAW94820;EAW94821;EAW94822;EAW94823;NP_001128719;NP_001128720;NP_002394;NP_059453;P55001 Hs.389137 1673284;1769557;2159382;2217602 MFAP2_4016;RH64188;RH79126;SHGC-74283 FLJ50901;MAGP;MAGP-1;MAGP1;MFAP-2 OTTHUMP00000002397;OTTHUMP00000002398;microfibril-associated glycoprotein 1 APPROVED protein-coding ENSG00000117122 HGNC:7033 01137 156790 REVIEWED 1317270 MFAP4 microfibrillar-associated protein 4 This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 17 17 17 p11.2 16699566 16703304 - 19286755 19290532 - 19383442 19387219 - 1580863;6480464 10424889;10542261;12477932;15340161;15342556;15489334;16335952;16867155;17207965;17539903;19380743;20628624;22315970;22355679;23443559;24324779;7633408 4239 K7ES70;P55083 ABBA01054609;AC124066;AK293056;AK304528;AMYH02033165;BC035560;BC047725;BC062415;BI765707;BP371800;BQ017631;CH471212;CS208039;HB867224;L38486;NG_027952;NM_001198695;NM_002404 AAB00968;AAH62415;ADQ31952;BAF85745;BAG65329;CAJ44945;CBF57598;EAW50888;EAW50889;EAW50890;NP_001185624;NP_002395;P55083 Hs.296049 1657872;1681358;1681913;1850159;2107351;2218562;7185892 D17S1287;MAPK7_4125;MFAP4_7828;RH64914;RH79913;RH80796;STS-U29725 OTTHUMP00000065899;OTTHUMP00000065920;microfibril-associated glycoprotein 4 APPROVED protein-coding ENSG00000166482 HGNC:7035 02789 600596 REVIEWED 1321011 MFF mitochondrial fission factor This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 2 2 2 q36.3 221961362 221991712 + 228189867 228222552 + 227325151 227357836 + 6480464 12477932;16344560;18029348;18353969;21139048;21149567;21509594;21701560;21725060;21885730;21906983;21963094;22334657;22499341;22595523;22878233;22939629;23284813;23444366;23530241;23921378 56947 C9J846;C9JAF1;C9JHF5;C9JI76;C9JU19;E9PK16;E9PKS0;E9PPR7;E9PPW6;E9PQX8;H7C433;Q9GZY8 AA629429;ABBA01050185;AC097662;AF226049;AF246239;AF258660;AK026137;AL517791;AL559606;AL833032;AMYH02005919;BC000797;BC093024;BI550249;BQ653061;CH471063;DA737008;DB043777;NG_033153;NM_001277061;NM_001277062;NM_001277063;NM_001277064;NM_001277065;NM_001277066;NM_001277067;NM_001277068;NM_020194;NR_102266;W58482;XM_005246681;XM_005246682;XM_005246683;XM_005246684;XM_005246685;XM_005246686;XM_005246687;XM_005246688;XM_006712637;XM_006712638;XM_006712639 AAF86949;AAG44486;AAG44658;AAH00797;AAH93024;AAY24252;BAB15373;CAH56328;EAW70859;EAW70860;EAW70861;EAW70862;EAW70863;EAW70864;EAW70865;EAW70866;EAW70867;EAW70868;EAW70869;NP_001263990;NP_001263991;NP_001263992;NP_001263993;NP_001263994;NP_001263995;NP_001263996;NP_001263997;NP_064579;Q9GZY8;XP_005246738;XP_005246739;XP_005246740;XP_005246741;XP_005246742;XP_005246743;XP_005246744;XP_005246745;XP_006712700;XP_006712701;XP_006712702 Hs.471528 1653215;1754153;1760387;1769965;2142731;2144535;2145756;7187396 A003P11;D2S2842;SHGC-132181;SHGC-142182;SHGC-32970;WI-12020;WIAF-1526 C2orf33;DKFZp666J168;GL004;MGC110913 OTTHUMP00000164235;OTTHUMP00000203987;OTTHUMP00000203989;mitochondrial fission factor homolog B protein-coding ENSG00000168958 HGNC:24858 16653 614785 REVIEWED 736002 MFGE8 milk fat globule-EGF factor 8 protein ENCODES a protein that exhibits integrin binding (inferred); phosphatidylethanolamine binding (inferred); phosphatidylserine binding (inferred); INVOLVED IN angiogenesis (inferred); cell adhesion (inferred); phagocytosis, engulfment (inferred); ASSOCIATED WITH Giant Cell Arteritis; FOUND IN extracellular matrix; extracellular space; extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; arsane 15 15 15 q25 65843230 65857979 - 89441914 89456685 - 88898683 88913454 - 1582497;1580863;6480464 11748647 10411933;11787681;11856354;12000961;12477932;12670504;14561811;14702039;15478463;16115445;16344560;16502470;17420351;17637751;17679143;17906662;18029348;18160406;18303131;18647368;18974133;18990388;19056867;1909932;19196164;19204935;19443842;19502262;19834535;19946888;20213738;20956946;21127199;21139048;21177637;21841820;21868707;21890473;22018779;22070546;22118674;22204000;22438901;22558449;22770563;22921913;23194669;23262193;23832117;23898208;24122204;24262600;24424369;24958900;8125298;8639264;8889548;9027496;9101712;9260929;9535276;9546740;9643686;9773837 4240 F5GZN3;H0YKB5;H0YKS8;Q08431;X6R3G6 ABBA01053003;AC067805;AK095908;AK222735;AK223182;AK304627;AK310357;AK312640;AMYH02031012;AU134066;AY141974;BC003610;BT006948;BU726667;BX537974;CH471101;NM_001114614;NM_005928;S56151;U58516;XM_005254920;XM_005254921 AAB19771;AAC50549;AAH03610;AAN08508;AAP35594;ACE87081;ACE87761;BAD96455;BAD96902;BAG35524;BAG53164;BAG65408;CAD97938;EAX02025;EAX02026;EAX02027;EAX02028;EAX02029;EAX02030;NP_001108086;NP_005919;Q08431;XP_005254977;XP_005254978 Hs.3745 1674204;1733662;1777810;1794368;2109503;2110941;2155829 D15S168E;D15S630E;G15928;MFGE8__6309;PMC311040P3;RH78066;SHGC-52839 BA46;EDIL1;HMFG;HsT19888;MFG-E8;MFGM;OAcGD3S;SED1;SPAG10;hP47 O-acetyl disialoganglioside synthase;OTTHUMP00000192921;breast epithelial antigen BA46;lactadherin;medin;sperm associated antigen 10;sperm surface protein hP47 protein-coding ENSG00000140545 HGNC:7036 03789 602281 VALIDATED 1317391 MFAP5 microfibrillar associated protein 5 This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] 12 12 12 p13.1-p12.3 10336125 10353038 - 8798540 8815433 - 8645944 8662888 - 1580863;6480464;6484113 10224057;12122015;12477932;12878157;15489334;16492672;18417156;19962670;20345228;22885067;23201136;23963447;24496384;8557636;8889548;9792630 8076 B3KW70;F5GYX4;F5H1C0;F5H2W4;F5H413;F5H7Z2;H0YG03;H0YGS3;Q13361 ABBA01012245;AC092184;AC092490;AF084918;AF084919;AF084920;AF084921;AF084922;AF084923;AF084924;AF084925;AF084926;AF084927;AI494006;AK124368;AK290585;AK299475;AK315807;AL833019;AMYH02025992;AU280458;AY339060;BC005901;BM678444;BU929788;BX396041;CH471116;DA544968;DB247952;DN996275;NM_001297709;NM_001297710;NM_001297711;NM_001297712;NM_003480;NR_123733;NR_123734;U37283;XM_005253485;XM_006719154;XR_242903;XR_242904 AAA96752;AAC83942;AAH05901;AAQ18021;ACE87011;BAF83274;BAF98698;BAG54032;BAG61439;EAW88613;EAW88614;NP_001284638;NP_001284639;NP_001284640;NP_001284641;NP_003471;Q13361;XP_005253542;XP_006719217 Hs.512842 1654282;1673710;1689468;1767660;2165818;5022578;5037552 D1S1423;D8S2279;RH99231;SHGC-36539;SHGC-58129;STS-W94200;WI-17490 MAGP-2;MAGP2;MFAP-5;MP25 OTTHUMP00000239218;OTTHUMP00000239219;OTTHUMP00000239220;OTTHUMP00000239266;OTTHUMP00000239268;OTTHUMP00000239269;OTTHUMP00000239270;OTTHUMP00000239271;OTTHUMP00000239272;microfibril-associated glycoprotein 2;microfibril-associated glycoprotein-2;microfibrillar-associated protein 5 APPROVED protein-coding ENSG00000197614 HGNC:29673 03063 601103 REVIEWED 1321226 MFAP1 microfibrillar-associated protein 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN extracellular matrix organization (inferred); FOUND IN microfibril; INTERACTS WITH 2-methylcholine; atrazine; benzene 15 15 15 q15-q21 20986194 21006411 - 44096733 44116951 - 43804535 43824753 - 1580863;6480464 11799066;12477932;1374398;15302935;15324660;15345747;16565220;17081983;19913121;20628086;21139048;21319273;21693764;21890473;21906983;21963094;21987572;22113938;22174317;22365833;22505724;22939629;22990118;23667531;24457600;24816145;7835894 4236 P55081 ABBA01039222;ABBA01039223;AC018512;AK312867;AMYH02030324;BC023557;BC050742;BF981568;CH471082;NM_005926;U04209 AAA92786;AAH23557;AAH50742;ABM84315;ABM87708;BAG35719;EAW77247;NP_005917;P55081 Hs.61418 1771468;1802754;1805254;1808066;1809872;1815654;1818770;1820506;1827008;1831306;1831530;1836950;1838280;1843426;1846360;1933804;1933806;1933808;1933810;1933812;1933814;1933816;1933818;1933820;1933822;1933824;1933826;1933828;1933830;1933832;1933834;1933836;1933838;1933840;1933842;1933844;1933846;1933848;1933850;1933852;1933854;1933856;1933858;1933860;1933862;1933864;1933866;1933868;1933870;1933872;1933874;1933876;1933878;1933880;1933882;1933884;1933886;1933888;1933890;1933892;1933894;1933896;1933898;1933900;1933902;1933904;1933906;1933908;1933910;1933912;1933914;1933916;1933918;1933920;1933922;1933924;1933926;1933928;1933930;1933932;1933934;1933936;1933938;1933940;1933942;1933944;1933946;1933948;1933950;1933952;1933954;1933956;1933958;1933960;1933962;1933964;1933966;1933968;1933970;1933972;1933974;2150774;2179881;2209106;2209108;2209110;2209112;2209114;2209116;2209118;2209120;2209122;2209124 D15S1342;ECD02264;ECD03572;ECD05011;ECD05928;ECD08865;ECD10449;ECD11328;ECD14619;ECD16789;ECD16902;ECD19639;ECD20314;ECD22922;ECD24400;REN37735;REN37736;REN37737;REN37738;REN37739;REN37740;REN37741;REN37742;REN37743;REN37744;REN37745;REN37746;REN37747;REN37748;REN37749;REN37750;REN37751;REN37752;REN37753;REN37754;REN37755;REN37756;REN37757;REN37758;REN37759;REN37760;REN37761;REN37762;REN37763;REN37764;REN37765;REN37766;REN37767;REN37768;REN37769;REN37770;REN37771;REN37772;REN37773;REN37774;REN37775;REN37776;REN37777;REN37778;REN37779;REN37780;REN37781;REN37782;REN37783;REN37784;REN37785;REN37786;REN37787;REN37788;REN37789;REN37790;REN37791;REN37792;REN37793;REN37794;REN37795;REN37796;REN37797;REN37798;REN37799;REN37800;REN37801;REN37802;REN37803;REN37804;REN37805;REN37806;REN37807;REN37808;REN37809;REN37810;REN37811;REN37812;REN37813;REN37814;REN37815;REN37816;REN37817;REN37818;REN37819;REN37820;STS-R01211;STS-U04209;stSG627961;stSG627963;stSG627964;stSG627965;stSG627967;stSG627968;stSG627969;stSG627970;stSG627971;stSG627972 OTTHUMP00000066512 protein-coding ENSG00000140259 HGNC:7032 02569 600215 VALIDATED 5144539 MFI2-AS1 MFI2 antisense RNA 1 INTERACTS WITH valproic acid 3 3 3 195316645 195318489 + 196729777 196731615 + 197002906 197004744 + 6480464 12477932 100507057 ABBA01033762;AC068302;AMYH02008507;BC032042;HG496614;HG496617;NR_038285 Hs.666451 1697646;2129765 RH102338;STS-M12154 AC068302.3 APPROVED ncrna ENSG00000228109 HGNC:40373 VALIDATED 1318798 MFHAS1 malignant fibrous histiocytoma amplified sequence 1 Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 7770247 7879341 - 8640864 8751131 - 8783354 8893621 - 1599928;1580863;6480464 9973190 12477932;14691450;14702039;16094384;18846501;20379614;20616063;20734064;22210626;22988871;23327923 9258 Q9Y4C4 AB016816;ABBA01026915;ABBA01026916;AC090567;AK027007;AK096504;AMYH02017397;AMYH02017398;AMYH02017399;BC014226;CH471157;NG_009444;NM_004225;XR_246634 AAH14226;AAI67810;BAA74737;EAW65566;NP_004216;Q9Y4C4 Hs.379414 1645876;1649064;1662805;1663805;1670100;1687914;2114158;2190649;2190651 D8S11490;D8S11550;D8S1672;RH35881;RH48369;RH80386;SGC33697;STS-AA007564;WI-18400 FLJ23354;LRRC65;MASL1 MFH-amplified sequences with leucine-rich tandem repeats 1;OTTHUMP00000224521;leucine rich repeat containing 65;malignant fibrous histiocytoma-amplified sequence 1;malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1;malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1 APPROVED protein-coding ENSG00000147324 HGNC:16982 12010 605352 REVIEWED 1350797 MFAP3 microfibrillar-associated protein 3 INVOLVED IN extracellular matrix organization (inferred); FOUND IN extracellular region (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH all-trans-retinoic acid; tamibarotene; valproic acid 5 5 5 q32-q33.2 149494051 149512547 + 153418519 153437014 + 154038959 154057454 + 1580863;6480464 12477932;14702039;15489334;19913121;20628086;21139048;21701570;21890473;21906983;21963094;23000965;7782085 4238 E5RH26;E5RHQ6;E5RJ59;P55082 ABBA01026241;AC010232;AC022088;AK000358;AK296468;AK315573;AL037715;AL049404;AMYH02012499;BC026244;CB994356;CH471062;L35251;NM_001135037;NM_001242336;NM_005927 AAC41753;AAH26244;ABM82905;ABM86096;BAA91108;BAG37947;BAG59113;EAW61645;NP_001128509;NP_001229265;NP_005918;P55082 Hs.432818 1674824;1683333;1745287;1767177;2107349;2118385;2176018;5094936 GDB:599277;MFAP3;MFAP3_7827;RH35762;RH47390;RH93513;SHGC-52995;STS-L35251 DKFZp586F0219 OTTHUMP00000160644;OTTHUMP00000224299;OTTHUMP00000224300;OTTHUMP00000224301;microfibril-associated glycoprotein 3 protein-coding HGNC:7034 02731 600491 VALIDATED 1349900 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase This gene is a member of the fringe gene family which also includes radical and lunatic fringe genes. They all encode evolutionarily conserved secreted proteins that act in the Notch receptor pathway to demarcate boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. [provided by RefSeq, Oct 2009] 22 22 22 q12 21665904 21683281 - 37865101 37882499 - 37469063 37486440 - 1302739;1580863;2302204;6480464;6907045;8554872 17761886;9187150 10341080;10591208;10640833;10935626;11346656;11978185;12036964;12477932;12486116;15280477;15461802;15489334;16344560;20237496;9207795;9878264 4242 A9UJP9;A9UJQ0;A9UJQ1;F6T992;F8WE05;F8WE21;H0Y6Q9;O00587 ABBA01055469;AI363008;AK292123;AK297149;AK297833;AK316555;AMYH02038334;BC094814;BM457814;CH471095;CR456518;DA815501;FP325335;NM_001166343;NM_002405;NR_029413;U94352;Z93096 AAC51358;AAH94814;BAF84812;BAG59648;BAG60167;BAG65633;CAB07511;CAG30404;CAK54549;CAK54848;CAP58790;CAP58791;CAP58792;CAP58793;EAW60161;EAW60162;NP_001159815;NP_002396;O00587 Hs.517603 2108253;2154772 MFNG_8469;RH78577 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase;OTTHUMP00000197828;beta-1,3-N-acetylglucosaminyltransferase manic fringe;manic fringe homolog (drosophila) APPROVED protein-coding ENSG00000100060 HGNC:7038 03988 602577 REVIEWED 1317764 MFI2 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008] 3 3 3 q28-q29 195315485 195343561 - 196728611 196756687 - 196988621 197029816 - 1580863;6480464 10691965;10737800;11337467;11852110;12230555;12477932;12710945;12750156;12809550;12860420;14702039;1544447;15489334;15716025;1633859;16449191;16449192;16449195;16704991;16713448;17170699;17196552;17227112;17449903;17452986;17570828;18691669;19056867;19815549;21190562;2419904;2463331;2540389;3010712;3754536;6843660;7556058;8300636;8705293;9176405 4241 C9JVN1;P08582;Q53XS6 A00127;AA442552;ABBA01033761;ABBA01033762;AC011322;AC068302;AK096182;AMYH02008507;AU099352;AW083943;BC001875;BC002623;BC007550;BC032752;BC034933;BC053510;BC068085;BC071910;BC082761;BC093920;BC111947;BC143257;BQ332373;BT007377;CH471191;K03200;M12154;NM_005929;NM_033316;XM_006713642;XM_006713643;XM_006713644 AAA59992;AAH01875;AAH02623;AAH07550;AAH71910;AAH93920;AAI11948;AAI52833;AAP36041;CAA00012;EAW53616;EAW53617;NP_005920;NP_201573;P08582;XP_006713705;XP_006713706;XP_006713707 Hs.184727 1697646;2108251;2129765;5024543;5119737;5493707 D1S3690;GDB:181216;MFI2_8468;RH102338;STS-M12154;UniSTS:490436 CD228;FLJ38863;MAP97;MGC4856;MTF1 OTTHUMP00000208148;OTTHUMP00000208149;melanoma-associated antigen p97, isoform 2;melanotransferrin;membrane-bound transferrin-like protein APPROVED protein-coding ENSG00000163975 HGNC:7037 01122 155750 REVIEWED 1316695 MFRP membrane frizzled-related protein This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013] 11 11 11 q23 116370323 116378054 - 119209644 119217383 - 119338934 119346673 - 6480464;7240710;8554872;8699517 11263980;12477932;12944416;14702039;15976030;16123440;16123441;16352475;16442268;17167404;18334955;18363166;18554571;18648522;18781223;19169412;19753314;19850743;20361016;21416382;22565643;22605927;22933837;23112574;23127749;23143909;23378726 83552 Q9BY79 AB055505;ABBA01039674;AJ862823;AK055132;AK295203;AL110261;AMYH02025666;AP003396;BC029485;BC036675;CH471065;EF444994;NG_012235;NM_031433 AAI60191;ACA06013;ACA06015;BAB39771;BAB70859;BAG58200;CAH93521;EAW67483;NP_113621;Q9BY79 Hs.632102 1847650;2219924 D11S869E;MFRP__6310 DKFZp586B0621;FLJ30570;MCOP5;MGC32938;NNO2;RD6 OTTHUMP00000232153;OTTHUMP00000232154;OTTHUMP00000232155;membrane-type frizzled-related protein APPROVED protein-coding ENSG00000259159 HGNC:18121 06941 606227;609549;611040 REVIEWED 1604055 MFSD10 major facilitator superfamily domain containing 10 This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 4 4 4 p16.3 2843479 2847778 - 2932288 2936586 - 2930561 2934859 - 6480464 12477932;15146197;17362938;18638446;21139048;21906983;21963094;8353488 10227 D6R9N3;D6RA47;D6RE79;D6RHV1;D6RIZ4;Q14728 ABBA01029483;AL390065;AMYH02008622;AMYH02008623;BC001502;BC014979;BC023537;BI769550;BX359190;CH471131;CN422014;L11669;NM_001120;NM_001146069;XM_005247927;XM_005247928;XR_427465;XR_427466 AAA36729;AAH01502;AAH14979;ABW03540;ABW03844;EAW82496;EAW82497;NP_001111;NP_001139541;Q14728;XP_005247984;XP_005247985 Hs.632581 1854325;2118060 SGC34157;STS-R53618 OTTHUMP00000151166;OTTHUMP00000216849;OTTHUMP00000216851;OTTHUMP00000216930;OTTHUMP00000216932;TETRAN;TETTRAN;major facilitator superfamily domain-containing protein 10;tetracycline transporter-like protein APPROVED protein-coding ENSG00000109736 HGNC:16894 10265 610977 REVIEWED 1317080 MFSD12 major facilitator superfamily domain containing 12 INVOLVED IN transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN lysosomal membrane; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; hydrogen peroxide 19 19 19 p13.3 3475073 3494380 - 3538263 3557582 - 3538720 3557584 - 737633;6480464;8554872 12477932 15489334;17897319;22441875 126321 K7EJS5;K7EKU1;K7ENE1;K7EQ22;K7ERJ8;Q6NUT3 ABBA01002829;AC005786;AC005787;AF218008;AL556500;AMYH02035257;BC036706;BC068439;BG763518;CH471139;EU375738;HY061678;KF456477;NM_001287529;NM_174983;XM_005259490;XM_006722646;XM_006722647 AAG17250;AAH36706;AAH68439;ABM83210;ABM86410;ABY76320;EAW69309;EAW69310;EAW69311;NP_001274458;NP_778148;Q6NUT3;XP_005259547;XP_006722709;XP_006722710 Hs.656901 1684792;1851490;2155078 RH47754;RH48811;RH98774 C19orf28;MGC20700;PP3501 hypothetical protein LOC126321;major facilitator superfamily domain-containing protein 12;uncharacterized MFS-type transporter C19orf28 APPROVED protein-coding ENSG00000161091 HGNC:28299 12704 VALIDATED 732569 MFN2 mitofusin 2 This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 11153903 11187236 + 12040238 12073572 + 11980181 12013515 + 1580863;1601409;1601408;6480464;7240710;8554872;8699517 15064763;16437557 11181170;11950885;12477932;12499352;12598526;12759376;14702039;15322553;15382611;15489334;15549395;15829499;15878861;15961417;16043786;16083859;16087932;16123358;16160866;16710414;16762064;16936636;17121834;17215403;17309650;17437620;17537722;17697539;17718388;17828388;17874344;17940179;18092941;18316077;18336293;18425620;18458227;18480994;18490623;18946002;18957892;18974884;19052620;19168699;19427854;19618221;19690333;19754948;19812251;19889647;20008656;20032281;20163430;20193559;20301462;20301532;20301684;20335458;20339081;20350294;20418531;20514460;20530328;20580691;20587496;20654126;20661427;20803103;20804729;20819609;20871098;20877624;20936726;20940517;21139048;21173115;21190094;21220420;21258814;21408142;21508331;21615408;21715711;21839087;21890473;21892769;21906983;21913423;21963094;21987543;21987572;22139419;22189565;22253285;22438978;22442078;22510407;22526351;22546700;22653593;22748923;22762946;22778543;22926664;22957060;23000965;23060438;23498974;23503661;23549803;23555273;23588792;23601695;23727017;23831624;23906296;23929728;23941871;24023840;24081906;24126688;24503793;24928385;9039502 9927 O95140;Q5JXC5 ABBA01003066;ABBA01003067;ABBA01003068;AF036536;AI857365;AK001189;AK021947;AK022453;AK289828;AK295890;AL096840;AL122114;AL137666;AMYH02000304;AMYH02000305;AY028429;BC017061;BU178912;CH471130;D86987;DC401346;NG_007945;NM_001127660;NM_014874;XM_005263543;XM_005263545;XM_005263547;XM_005263548 AAD02058;AAH17061;AAK18728;ABM85107;ABW03721;BAA34389;BAF82517;BAG50864;BAG51062;BAG51075;BAH12214;CAB70866;EAW71726;EAW71727;NP_001121132;NP_055689;O95140;XP_005263600;XP_005263602;XP_005263604;XP_005263605 Hs.376681 1336018;1734388;1849347;1849349;2120586;2151129 A002C35;D1S1753E;D1S489;G19936;RH12722;SHGC-127 CMT2A;CMT2A2;CPRP1;HSG;KIAA0214;MARF OTTHUMP00000002509;hyperplasia suppressor;mitochondrial assembly regulatory factor;mitofusin-2;transmembrane GTPase MFN2 1643585 SGHRL1_H APPROVED protein-coding ENSG00000116688 HGNC:16877 08495 601152;608507;609260 REVIEWED 8657171 MFSD1P1 major facilitator superfamily domain containing 1 pseudogene 1 17 17 17 p13.2 4216021 4218162 + 4204542 4206677 + 4301247 4303382 + 100313532 ABBA01054759;AC087742;AMYH02032820;NG_015881 pseudo HGNC:50625 INFERRED 1603960 MFSD11 major facilitator superfamily domain containing 11 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH paracetamol; quercetin; valproic acid 17 17 17 q25 71326156 71367727 + 74732647 74775336 + 76736565 76779254 + 6480464;8554872 12477932;23776548;9358160 79157 K7ELU3;K7EM95;K7EMP0;K7EQL2;K7ERE5;K7ES57;K7ES99;K7ESK9;O43934 ABBA01028730;ABBA01028731;AC005837;AC027694;AF015183;AF015184;AF015185;AF015186;AF015187;AF015188;AF015189;AF015190;AK000233;AK025849;AK308058;AMYH02034021;AMYH02034022;BC002753;BC062563;CH471099;NM_001242532;NM_001242533;NM_001242534;NM_001242535;NM_001242536;NM_001242537;NM_024311;XM_005257661;XM_005257662 AAB92495;AAB92496;AAB92497;AAH02753;AAH62563;ABM87232;BAA91025;EAW89449;EAW89450;EAW89451;EAW89452;EAW89453;EAW89454;NP_001229461;NP_001229462;NP_001229463;NP_001229464;NP_001229465;NP_001229466;NP_077287;O43934;XP_005257718;XP_005257719 Hs.732019;Hs.73965 1655915;1754459;2147224;2158926;2167324;2179240 D17S1544;D17S2101;D17S657;D4S2570E;RH12539;SHGC-132733 ET;FLJ20226;FLJ22196 UNC93-like protein MFSD11;major facilitator superfamily domain-containing protein 11 protein-coding ENSG00000092931 HGNC:25458 13281 VALIDATED 1346472 MFSD1 major facilitator superfamily domain containing 1 INVOLVED IN transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; formaldehyde 3 3 3 q25.32 156942471 156970268 + 158519051 158547508 + 158801926 158829719 + 737633;1580863;6480464 12477932 14702039;15489334;21139048;21752829;21890473;21987572;23000965;24024966;8889548 64747 C9J5G6;C9JAC3;C9JBA3;C9JCH3;C9JZW5;H7C4F4;H7C593;H7C5U3;Q9H3U5 AB014732;ABBA01058812;AC080013;AC128694;AF351617;AK023478;AK024215;AK294628;AK297034;AK297593;AK300497;AK301680;AMYH02008001;AX191565;BC017661;BC030542;BC042197;BU608918;CH471052;NM_001167903;NM_001289406;NM_001289407;NM_022736;NR_110328;XM_006713730 AAH30542;AAH42197;AAN76517;BAB14852;BAB20269;BAG57809;BAG59562;BAG59980;BAG62211;BAG63153;CAC51171;EAW78672;EAW78673;EAW78674;NP_001161375;NP_001276335;NP_001276336;NP_073573;Q9H3U5;XP_006713793 Hs.58663 1662019;1754527;2171175;5114834 RH17522;SGC33811;SHGC-132809;SHGC-52391 FLJ14153;SMAP-4;SMAP4;UG0581B09 OTTHUMP00000213564;major facilitator superfamily domain-containing protein 1;smooth muscle cell-associated protein 4 protein-coding ENSG00000118855 HGNC:25874 07851 VALIDATED 1605597 MFSD3 major facilitator superfamily domain containing 3 INVOLVED IN transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cobalt dichloride 8 8 8 q24.3 141910025 141912062 + 145733161 145736596 + 144509169 144511206 + 6480464 12477932;15489334;16189514;21139048;21988832 113655 Q96ES6 ABBA01005200;AC084125;AMYH02019009;BC011982;CH471162;NM_138431 AAH11982;EAW82072;EAW82073;EAW82074;EAW82075;EAW82076;NP_612440;Q96ES6 Hs.7678 1662469;1675644 RH65331;WI-15870 OTTHUMP00000228785;major facilitator superfamily domain-containing protein 3 protein-coding ENSG00000167700 HGNC:25157 14003 PROVISIONAL 1606200 MFSD2A major facilitator superfamily domain containing 2A ENCODES a protein that exhibits phospholipid transporter activity (ortholog); symporter activity (ortholog); INVOLVED IN establishment of blood-brain barrier (ortholog); fatty acid transport (ortholog); lipid transport across blood brain barrier (ortholog); FOUND IN cytoplasm; plasma membrane; integral component of plasma membrane (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 1 1 1 p34.2 38702422 38717260 + 40420784 40435630 + 39955112 39969968 + 6480464 12477932;12975309;14702039;15221005;15342556;15489334;15498874;16303743;16344560;16710414;17145094;18694395;18988732;20236515;21677192;21736709;23177091;23349019;23534349 84879 B4DNN7;E7EPI8;Q5SSK0;Q71RE4;Q8NA29 AB073383;ABBA01023194;AF289609;AF370364;AK027396;AK074186;AK075183;AK093223;AK291540;AK297991;AK301533;AL663070;AL834184;AMYH02000838;AMYH02000839;AY358636;BC006353;BC011587;BC092414;BP321361;CH471059;CQ783264;DB376308;DC297497;NM_001136493;NM_001287808;NM_001287809;NM_032793;NR_109896;XM_005271285 AAH06353;AAH11587;AAH92414;AAL55793;AAQ15200;AAQ88999;BAC04100;BAC11456;BAD38634;BAF84229;BAG60299;BAG63034;CAF86469;EAX07246;EAX07247;EAX07248;EAX07249;NP_001129965;NP_001274737;NP_001274738;NP_116182;Q8NA29;XP_005271342 Hs.655177 1684688;1735528;2122272;5014051;5037552 AL010130;D1S1874E;D8S2278;D8S2279;RH80981 FLJ14490;FLJ35904;FP1147;HMFN0656;MFSD2;NLS1;PP10484;RP3-342P20.1 OTTHUMP00000010893;OTTHUMP00000010894;major facilitator superfamily domain containing 2;major facilitator superfamily domain-containing protein 2A;sodium-dependent LPC symporter 1;sodium-dependent lysophosphatidylcholine symporter 1 APPROVED protein-coding ENSG00000168389 HGNC:25897 07861 614397 VALIDATED 1605282 MFSD4 major facilitator superfamily domain containing 4 INVOLVED IN transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; ethyl methanesulfonate; formaldehyde 1 1 1 q32.1 178673289 178707766 + 205538112 205572046 + 205568984 205602918 + 6480464;8554872 12477932;12975309;14702039;15489334 148808 B7Z8X3;F5H391;Q8N468;Q96KX6 ABBA01027413;ABBA01027414;AC096533;AK057733;AK090831;AK091896;AK127321;AK293816;AK295148;AK304109;AK304120;AL713676;AMYH02002549;AY358107;BC016377;BC036549;CH471067;DC317463;NM_181644 AAH16377;AAH36549;AAQ88474;BAC03767;BAH11603;BAH11991;BAH14106;BAH14109;CAD28481;EAW91564;EAW91565;EAW91566;EAW91567;EAW91568;EAW91569;NP_857595;Q8N468 Hs.567714 1643816;1650624;1659547;1664992;1777143;1849869;2116997;2138212;2167440;2184618;5037552;5093184;5109281 A002U12;A009J04;D1S1425;D1S1856E;D1S2427;D8S2279;G32569;RH16681;SHGC-30130;SHGC-76230;SHGC-76231;SHGC-76239;SHGC-76242 DKFZp564C1416;DKFZp761N1114;FLJ25004;FLJ34577;FLJ45392;UNQ3064 OTTHUMP00000035320;major facilitator superfamily domain-containing protein 4 protein-coding ENSG00000174514 HGNC:25433 13228 VALIDATED 3476989 MFSD2B major facilitator superfamily domain containing 2B INVOLVED IN transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred) 2 2 2 p23.3 24073356 24087524 + 24232953 24248698 + 24010083 24025828 + 8554872 12477932;18694395;19197348 388931 A6NFX1;H7BZN4;J3KNU6 ABBA01045100;AC104665;AMYH02003410;BC033385;BX647146;NM_001080473;XM_005264301 A6NFX1;NP_001073942;XP_005264358 Hs.407482 1655141;1664648;2125876;5014051;5037552;5113465;5123024 D8S2278;D8S2279;G11813;G16493;RH46847;RH68763;RH70337 OTTHUMP00000200728;major facilitator superfamily domain-containing protein 2B protein-coding ENSG00000205639 HGNC:37207 PROVISIONAL 1603890 MFSD6L major facilitator superfamily domain containing 6-like ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH titanium dioxide (ortholog) 17 17 17 p13.1 8731303 8733542 - 8700428 8702667 - 8797110 8799349 - 6480464;8554872 12477932;14702039;20379614 162387 Q8IWD5 ABBA01054925;AC009451;AK093092;AMYH02032934;AY129026;BC040487;BM986935;CH471108;NM_152599 AAH40487;AAM98769;BAC04050;EAW90042;NP_689812;Q8IWD5 Hs.213603 FLJ35773 major facilitator superfamily domain-containing protein 6-like protein-coding ENSG00000185156 HGNC:26656 08186 VALIDATED 1604571 MFSD7 major facilitator superfamily domain containing 7 INVOLVED IN transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cadmium dichloride; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 p16.3 616683 623713 - 669992 683257 - 676205 689468 - 6480464 12477932;12975309;14702039;15489334;15498874 84179 D6R9R0;D6RB07;D6RED0;D6RIZ6;Q6UXD7 ABBA01019337;AC107464;AK025922;AK292010;AMYH02008559;AY203936;AY358401;BC030246;CH471131;CK725033;NM_001294341;NM_001294342;NM_032219;XM_005272295;XM_005272297;XM_005272299;XM_006713918;XM_006713919;XR_246613;XR_427480;XR_427481 AAH30246;AAP34459;AAQ88767;BAB15283;BAF84699;EAW82658;EAW82659;NP_001281270;NP_001281271;NP_115595;Q6UXD7;XP_005272352;XP_005272354;XP_005272356;XP_006713981;XP_006713982 Hs.567612 1673616;1742155;1797978;2136235;2157146 GDB:192428;PDE6B_1997;SHGC-59575;SHGC-67900;WI-19161 FLJ22269;LP2561;MYL5 OTTHUMP00000147528;OTTHUMP00000217194;OTTHUMP00000217195;OTTHUMP00000217196;OTTHUMP00000217197;major facilitator superfamily domain-containing protein 7;myosin light polypeptide 5 regulatory protein protein-coding ENSG00000169026 HGNC:26177 08650 VALIDATED 1606209 MFSD9 major facilitator superfamily domain containing 9 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; methyl methanesulfonate; nickel sulfate 2 2 2 q12.1 97534826 97554500 - 103331089 103353341 - 102714630 102736882 - 6480464;8554872 12477932;16303743;16344560;22952603;23400010;24250222;8619474;9110174 84804 B4DKY6;F2Z2A2;F8WDV5;F8WE00;H7C3S7;Q8NBP5 ABBA01073894;ABBA01073895;AC007239;AC007251;AK075376;AK290589;AK296768;AK307178;AMYH02004441;BC006242;BC009310;CH471127;CS051423;DB316151;DC344851;NM_032718;U79290;XM_005264032 AAH06242;AAH09310;AAX88847;AAY14910;BAC11577;BAF83278;BAG59348;CAI72206;EAX01787;NP_116107;Q8NBP5;XP_005264089 Hs.590898;Hs.720914 1682331;2107357;5015619 D11S3114;MGC11332__7666;RH98606 MGC11332 OTTHUMP00000161341;major facilitator superfamily domain-containing protein 9 protein-coding HGNC:28158 14418 VALIDATED 1606119 MFSD8 major facilitator superfamily domain containing 8 This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008] 4 4 4 q28.2 126217913 126268512 - 128838960 128887185 - 127917805 127965984 - 6480464;7240710;8554872;8699517 10191125;11589000;12477932;15146197;16303743;16344560;17564970;17897319;18029348;18850119;19177532;19201763;19277732;20301334;20301601;20826447;24250222 256471 B7Z205;B7Z2B2;E7ERQ4;Q8NHS3 AA242881;ABBA01044796;ABBA01044797;ABBA01044798;ABBA01044799;AC099340;AK074564;AK294184;AK294439;AK294527;AK294957;AK315596;AMYH02010072;AMYH02010073;BC029503;BI553701;BQ015234;CB956202;CH471056;CN310788;CX873070;DA481070;NG_008657;NM_152778;XM_005262893;XM_005262896;XM_005262897;XM_005262898;XM_005262900 AAH29503;ADZ15480;BAC11062;BAG37968;BAH11691;BAH11766;BAH11798;BAH11934;EAX05193;EAX05194;EAX05195;NP_689991;Q8NHS3;XP_005262950;XP_005262953;XP_005262954;XP_005262955;XP_005262957 Hs.480701 2168668;2168670;2169892 RH48272;SHGC-16476;SHGC-50195 CLN7;MGC33302 OTTHUMP00000164425;OTTHUMP00000219818;ceroid-lipofuscinosis neuronal protein 7;ceroid-lipofuscinosis, neuronal 7, late infantile;major facilitator superfamily domain-containing protein 8 APPROVED protein-coding ENSG00000164073 HGNC:28486 14557 610951;611124 REVIEWED 731663 MFN1 mitofusin 1 The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008] 3 3 3 q26.33 177496491 177542028 + 179065480 179111014 + 179347692 179393226 + 6480464 11181170;11751411;11950885;12475957;12477932;12759376;14702039;15489334;15509649;15961417;17718388;18832378;19168699;19754948;20103533;20339081;20661427;20871098;20877624;20974255;20981029;21139048;21173115;21408142;21615408;21839087;21890473;21906983;21963094;22484496;22505724;22649485;22939629;23000965;23060438;23253261;23319602;23427266;23498974;23503661;23713734;23727017;24722297;24751536;24824927;8358434;8619474;9110174;9230308 55669 C9JQT7;C9JXQ1;H7C5H5;Q8IWA4 AB043588;AB043589;ABBA01058537;ABBA01058538;AC007620;AC007823;AF054986;AF329637;AI656503;AK000700;AK314306;AMYH02008224;AMYH02008225;BC020661;BC040557;CH471052;CR627379;KF457722;NM_033540;U95822;XM_005247595;XM_005247596 AAB64220;AAC09347;AAH20661;AAH40557;AAK06840;ACE86976;ACE87665;ADZ16006;BAA91327;BAE16564;BAE16565;BAG36958;CAH10476;EAW78406;EAW78407;EAW78408;EAW78409;EAW78410;EAW78411;EAW78412;NP_284941;Q8IWA4;XP_005247652;XP_005247653 Hs.478383 1684530;2158902 D3S3388;RH92241 DKFZp762F247;FLJ20693;MGC41806;hfzo1;hfzo2 OTTHUMP00000212064;OTTHUMP00000212066;OTTHUMP00000212067;fzo homolog;mitochondrial transmembrane GTPase FZO-2;mitochondrial transmembrane GTPase Fzo-1;mitofusin-1;putative transmembrane GTPase;transmembrane GTPase MFN1 APPROVED protein-coding HGNC:18262 16344 608506 REVIEWED 1605912 MFSD5 major facilitator superfamily domain containing 5 INVOLVED IN ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; atrazine; benzene 12 12 12 q13.13 53294460 53297280 + 53645035 53648190 + 53251251 53254406 + 6480464;8554872 12477932;12975309;14702039;15231747;15489334;16303743;16344560;17207965;19946888;21890473;21988832;23864651;8125298 84975 F8VV69;Q6N075 ABBA01008321;AC021072;AK074684;AK097576;AK225998;AMYH02026517;AX118981;AY358604;BC007703;BC067795;BX640649;CH471054;CQ782634;DA428788;DA565785;DA695979;NM_001170790;NM_032889;XM_005269197;XM_005269198 AAH07703;AAH67795;AAQ88967;ADQ31809;BAC05108;BAC11137;CAC38564;CAE45795;CAF85892;EAW96679;EAW96680;NP_001164261;NP_116278;Q6N075;XP_005269254;XP_005269255 Hs.654660 1682824 RH28518 MGC11308;hsMOT2 OTTHUMP00000242632;major facilitator superfamily domain-containing protein 5;molybdate transporter 2 homolog;molybdate-anion transporter protein-coding ENSG00000182544 HGNC:28156 14416 VALIDATED 1603194 MGARP mitochondria-localized glutamic acid-rich protein INVOLVED IN anterograde axon cargo transport (ortholog); axon transport of mitochondrion (ortholog); cellular response to gonadotropin-releasing hormone (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion; integral component of mitochondrial outer membrane (ortholog); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; all-trans-retinoic acid 4 4 4 q31.1 137519484 137533661 - 140187317 140201492 - 139266163 139280338 - 6480464;8554872 12036975;12477932;16565373;19325000;19528298;20016276;20029029;20107910;21447634;23209644 84709 Q8TDB4 ABBA01069953;AC024032;AF329088;AF484960;AMYH02010197;BC037987;BC104173;BC104174;CH471056;NM_032623 AAG59896;AAI04174;AAI04175;AAM09685;EAX05122;NP_116012;Q8TDB4 Hs.710036 C4orf49;CESP-1;HUMMR;MGC125827;MGC125828;OSAP OTTHUMP00000220048;corneal endothelium-specific protein 1;hypoxia up-regulated mitochondrial movement regulator;ovary-specific acidic protein;uncharacterized protein C4orf49 APPROVED protein-coding ENSG00000137463 HGNC:29969 17805 VALIDATED 1343088 MGAT3 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23655378 23690243 + 39843235 39888199 + 39447224 39492194 + 1580863;6480464;6484113;6907045;8554872 10591208;11011143;11768033;12427758;12477932;12716887;14623284;14998999;15461802;15489334;16344560;17652175;19276077;19403558;19776078;20089585;21368380;22268729;22451656;23382691;23671930;8370666;8666260;8706690;8889548 4248 B0QY92;B0QY93;Q09327 ABBA01055572;ABBA01055573;AK125361;AK313664;AL022312;AMYH02038383;BC075025;BC075026;BC113383;BC113718;BG683192;BM675328;CH471095;CR456519;D13789;D85377;D85378;D85379;DA261678;DA370485;DA519457;L48489;NM_001098270;NM_002409;XM_005261608;XM_005261609;XM_006724252;Z83845 AAH75025;AAH75026;AAI13384;AAI13719;ADR83204;BAA02937;BAA19868;BAG36416;CAG30405;CAK54550;CAK54849;EAW60332;NP_001091740;NP_002400;Q09327;XP_005261665;XP_005261666;XP_006724315 Hs.276808 1678833;1716237;1757131;1778794;5017227 G38154;RH121145;RH78550;RH80746;SHGC-144567 FLJ43371;GNT-III;GNT3;MGC141943;MGC142278 GlcNAc-T III;N-acetylglucosaminyltransferase III;N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III;OTTHUMP00000028574;OTTHUMP00000199142;beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase APPROVED protein-coding ENSG00000128268 HGNC:7046 07058 604621 REVIEWED 1349279 MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q35 175841463 175861059 - 180217541 180237939 - 180790541 180810505 - 1580863;6480464;6907045 12077311;12477932;1421759;14702039;15146197;15231748;15489334;16303743;16344560;1702225;17716624;18187620;1827260;19197348;19199708;19219857;19826906;19851299;19946888;20335257;21139048;21304485;21900206;22957033;23400010;24250222;7635144;9020882 4245 D6R9U2;D6RA48;D6RAK2;D6RB69;D6RBS3;D6RD15;D6RF69;D6RHZ8;D6RIS2;P26572 AB209239;ABBA01010082;ABBA01010083;ABBA01010084;AC022413;AF289558;AK057194;AK075429;AK090523;AK092256;AK094130;AK290769;AMYH02012913;BC003575;BG337235;CA426780;CH471165;CN409895;CR456861;DB270226;DC383950;L77081;M55621;M61829;NG_032928;NM_001114617;NM_001114618;NM_001114619;NM_001114620;NM_002406;XM_005265915;XM_005265916;XM_006714866;XM_006714867 AAA52563;AAA75523;AAH03575;AAL55742;ABM83429;ABM86642;BAC11616;BAD92476;BAF83458;BAG51880;BAG52177;BAG52510;BAG52821;CAG33142;EAW53739;EAW53740;EAW53741;EAW53742;EAW53743;EAW53744;EAW53745;NP_001108089;NP_001108090;NP_001108091;NP_001108092;NP_002397;P26572;XP_005265972;XP_005265973;XP_006714929;XP_006714930 Hs.519818 1651695;1668342;1772093;2108255;2112206;2115383 D5S2777;MGAT1_8470;RH47673;RH77949;STS-N39426;STS-W68218 GLCNAC-TI;GLCT1;GLYT1;GNT-1;GNT-I;MGAT N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase I;OTTHUMP00000161546;OTTHUMP00000221720;OTTHUMP00000221721;OTTHUMP00000221722;OTTHUMP00000221739;OTTHUMP00000221740;OTTHUMP00000221750;OTTHUMP00000221751;OTTHUMP00000221752;OTTHUMP00000221753;OTTHUMP00000221754;OTTHUMP00000221755;OTTHUMP00000221756;alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase;glcNAc-T I APPROVED protein-coding ENSG00000131446 HGNC:7044 01189 160995 REVIEWED 1603217 MFSD6 major facilitator superfamily domain containing 6 INVOLVED IN transmembrane transport (inferred); FOUND IN membrane; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 q32.2 184868042 184961979 + 191273081 191367041 + 190408355 190502315 + 6480464 12477932;14702039;19401682;19946888;20123006;20379614;20978832;8125298 54842 B7Z7Y2;C9IYL1;C9J134;C9JAZ7;C9JJH2;H7C0X2;H7C284;Q6ZSS7 AB472299;ABBA01062384;ABBA01062385;ABBA01062386;AC092178;AC093388;AK000167;AK021420;AK098085;AK127176;AK225240;AK302647;AK302753;AMYH02005435;AMYH02005436;BC039058;BC050537;BC062757;CH471058;NM_017694;XM_005246654;XM_005246655;XM_005246656 AAH50537;AAY24173;BAA90987;BAC86869;BAH13768;BAH13796;BAI82196;EAX10867;EAX10868;NP_060164;Q6ZSS7;XP_005246711;XP_005246712;XP_005246713 Hs.418581;Hs.744117 1337032;1649423;1674288;1712791;1776740;1783916;2117152;2122258;2182772;5093218 119XB4;A009J35;D2S2262;D2S2905;D2S2935;G32590;RH120110;SHGC-106927;WI-15064;WI-21678 FLJ20160;MMR2;hMMR2 OTTHUMP00000163510;OTTHUMP00000205546;OTTHUMP00000205548;macrophage MHC class I receptor 2 homolog;macrophage MHC receptor 2;major facilitator superfamily domain-containing protein 6 protein-coding ENSG00000151690 HGNC:24711 13369 613476 VALIDATED 1351170 MGA MGA, MAX dimerization protein ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN MLL1 complex; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; bisphenol A 15 15 15 q14 18720565 18829777 + 41913432 42062141 + 41621229 41769943 + 1580863;6480464;8554872 10601024;12477932;12748276;14702039;15231748;15960975;20936779;21693764;21890473;21906983;21963094;21988832;22325352;22939629;23000965;24131248;24250222;24457600;25027693;9628581 23269 B9EGR5;H3BP52;H3BTF4;H3BTN2;H3BU53;Q8IWI9 AA188751;AB011090;ABBA01038390;ABBA01038391;ABBA01038392;ABBA01038393;ABBA01038394;ABBA01038395;AC016134;AC073657;AI434570;AK022696;AK023360;AK025751;AK055203;AK056470;AK301207;AL050181;AL713737;AMYH02030276;AMYH02030277;BC007584;BC016982;BC038449;BC136659;BQ937819;BX643019;BX648098;DC391039;DR001080;NM_001080541;NM_001164273;XM_005254243;XM_005254244;XM_005254245;XM_005254246;XM_005254247;XM_005254248;XM_005254249;XM_005254252;XM_005254253;XM_005254254;XM_006720442;XM_006720443;XM_006720444;XM_006720445 AAH38449;AAI36660;BAA25444;BAB14186;BAB14543;BAB15232;BAG62783;CAB43310;NP_001074010;NP_001157745;Q8IWI9;XP_005254300;XP_005254301;XP_005254302;XP_005254303;XP_005254304;XP_005254305;XP_005254306;XP_005254309;XP_005254310;XP_005254311;XP_006720505;XP_006720506;XP_006720507;XP_006720508 Hs.187569 1715657;1721551;1773286;2177718;2177927;2190987;2217604;5037552 D8S2279;G59780;MARC_12255-12256:1005143983:1;MGA_3792;RH119274;RH47654;RH70197;WI-11636 FLJ12634;KIAA0518;MAD5;MXD5 MAX dimerization protein 5;MAX gene associated;MAX gene-associated protein APPROVED protein-coding ENSG00000174197 HGNC:14010 VALIDATED 8694056 MGAT4EP MGAT4 family, member E, pseudogene 1 1 1 q31 175918607 175925575 + 202794329 202795421 + 202825201 202826293 + 12477932;15489334;16710414 641515 ABBA01027495;AC098934;AMYH02002504;BC032956;NR_038135 AAH32956 Hs.23459 pseudo HGNC:49418 VALIDATED 731495 MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 14 14 14 q21 29947307 29950017 + 50087460 50090199 + 49620771 49623481 + 1581206;1599932;1599930;1580863;6480464;6907045;7240710;8554872;8699517 11228641;11805078;8808595 11530211;12477932;12560567;12621063;14702039;15489334;16303743;1736542;19946888;20301507;20378551;2187500;2283726;2355006;24573674;24784138;24816145;2541446;2542563;2649653;2829950;3099781;3264072;7635144;7797505;8093218;8218172;8673525;8892864;9109416;9579808 4247 B4DDK9;Q10469 ABBA01018111;AK056167;AK075051;AK075199;AK293231;AL139099;AMYH02029149;BC006390;BC018912;BI764270;BQ023756;CH471078;CS410226;NG_008920;NG_033054;NM_002408;U15128 AAA86956;AAH06390;ABM83639;ABM87858;BAG51637;BAG52082;BAG56770;CAL47688;EAW65758;NP_002399;Q10469 Hs.93338 1648634;1688201;1841944;1930350;2116917 ECD22175;REN36004;RH69276;RH71370;SHGC-36981 CDG2A;CDGS2;GLCNACTII;GNT-II;GNT2 Beta-1,2-N-acetylglucosaminyltransferase II;N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II;OTTHUMP00000178926;UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II;alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase;glcNAc-T II;mannoside acetylglucosaminyltransferase 2 APPROVED protein-coding ENSG00000168282 HGNC:7045 04013 212066;602616 REVIEWED 1605861 MGAT4D MGAT4 family, member D ENCODES a protein that exhibits transferase activity, transferring hexosyl groups (inferred); INVOLVED IN carbohydrate metabolic process (inferred); FOUND IN extracellular region (inferred); membrane (inferred) 4 4 4 q31.1 138694536 138749502 - 141364529 141419531 - 140442956 140498377 - 12477932;15815621;16773575;17903293 152586 A6NG13;D6RCD3 ABBA01069981;AC093671;AMYH02010212;BC041818;BI826002;BI828214;DB444046;DB462368;NM_001277353;XM_006714108 A6NG13;NP_001264282;XP_006714171 Hs.189067 MGC43429 OTTHUMP00000222471;glycosyltransferase 54 domain containing 1;mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase family, member D APPROVED protein-coding ENSG00000205301 HGNC:43619 18736 610310 VALIDATED 1602226 MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008] 5 5 5 q35 174849754 174859109 - 179224597 179233952 - 179797597 179806952 - 6480464;6907045 10372966;11530211;12477932;12975309;14702039;15146197;16169070;16434023;17006639;1736542;17488527;19913121;20628086;2187500;21906983;22939629;2541446;2542563;2649653;2829950;3099781;3264072;8093218;8125298;8673525;9109416 11282 E5RFL0;E5RFS3;H0YB63;H0YB84;H0YB89;H0YC11;H0YC13;H0YC56;H0YC79;Q9UQ53 AB000624;ABBA01010042;AC008393;AK023137;AK225490;AK225492;AL162067;AL537522;AMYH02012892;AY358984;BC009464;BC051835;BQ882570;BQ939735;CH471165;CN369872;KF510916;NM_014275;NM_054013 AAH09464;AAH51835;AAQ89343;BAA83464;BAG51162;CAB82404;EAW53788;EAW53789;EAW53790;EAW53791;EAW53792;EAW53793;EAW53794;EAW53795;NP_055090;NP_463459;Q9UQ53 Hs.567419 1740437;1769260 D5S2244E;RH66666 GNT-IV;GNT-IVB N-acetylglucosaminyltransferase IVb;N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVb;OTTHUMP00000161519;OTTHUMP00000161520;OTTHUMP00000224413;OTTHUMP00000224414;OTTHUMP00000224762;UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV;UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVb;alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B;alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase;aminyltransferase;glcNAc-T IVb;mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B APPROVED protein-coding ENSG00000161013 HGNC:7048 05190 604561 REVIEWED 1313803 MGAT4A mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme B, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008] 2 2 2 q12 93439294 93552735 - 99235569 99347589 - 98619106 98731126 - 1580863;2317701;6480464;6907045;8554872 16434023 10024668;11530211;12477932;14702039;15688387;17006639;1736542;17488527;17953760;19199708;19751437;21738484;2187500;21926972;23169300;2541446;2542563;2649653;2829950;3099781;3264072;8093218;8673525;9109416 11320 Q9UM21;U3KPT4 AB000616;AB053222;ABBA01073965;ABBA01073966;AC064860;AC109826;AK092952;AK128366;AK291533;AK304393;AK309852;AK314024;AMYH02004385;AMYH02004386;AMYH02004387;AMYH02004388;AW138839;BC127107;BC127108;CH471127;NM_001160154;NM_012214 AAI27108;AAI27109;AAY14976;AAY24092;BAA86388;BAC55023;BAF84222;BAG65228;EAX01896;EAX01897;EAX01898;NP_001153626;NP_036346;Q9UM21 Hs.177576 1847883;2108821;2116518;2118923;2169978;5014051;5016596;5021872;5037552;5092652 A005M31;Cda19d01;D8S2278;D8S2279;G32240;GDB:631802;MGAT4A_9262;RH36125;RH46073;sY3084 GNT-IV;GNT-IVA;GnT-4a N-acetylglucosaminyltransferase IVa;N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVa;OTTHUMP00000161122;OTTHUMP00000203150;UDP-GlcNAc:a-1,3-D-mannoside b-1,4-acetylglucosaminyltransferase IV;UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVa;UDP-N-acetylglucosamine:alpha1,3-d-mannoside beta1,4-N-acetylglucosaminyltransferase;alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A;alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase;glcNAc-T IVa;mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A APPROVED protein-coding ENSG00000071073 HGNC:7047 06860 604623 REVIEWED 1345530 MGC1 megalocornea 1 (X-linked) 7240710 4251 1694318;1701734 DXS87;DXS94 HGNC:7052 1606877 MGC12965 similar to Cytochrome c, somatic q13.4 12477932 374408 Q8TB74 AP001372;BC019340;BX647206;CH471076;NM_198519 AAH19340;EAW74941;NP_940921;Q8TB74 Hs.662812 protein-coding 11306 1318097 MGAM maltase-glucoamylase (alpha-glucosidase) This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008] 7 7 7 q34 136417024 136479472 + 141695676 141806547 + 141911494 142106747 + 1580863;6480464;6907045;8554872 12477932;12547908;12853948;16052631;17485087;18036614;18377903;19472353;19913121;20356844;20628086;20675712;21963094;22036121;22058037;22563462;23405089;23568457;23966204;3121301;3143729;9446624 8972 E7ER45;E7EW87;E9PEQ5;O43451 ABBA01034115;ABBA01034116;ABBA01034117;ABBA01034118;ABBA01034119;ABBA01034120;ABBA01034121;ABBA01034122;AC073647;AC091684;AC091742;AF016833;AF432186;AF432202;AMYH02016929;AMYH02016930;BC120872;CH236950;CH471070;NG_033954;NM_004668;XM_006716168;XM_006716169 AAC39568;AAI20873;AAL83559;AAL83560;AAP21875;AAS07445;EAW83988;EAW83989;NP_004659;O43451;XP_006716231;XP_006716232 Hs.122785 1714815;1740631;1787926;2148520;2155762 D20S988;D7S1425;RH120074;SHGC-155418;SHGC-32830 MG;MGA OTTHUMP00000213038;OTTHUMP00000213066;alpha-glucosidase;brush border hydrolase;maltase-glucoamylase, intestinal APPROVED protein-coding ENSG00000257335 HGNC:7043 01104 154360 REVIEWED 1601943 MGC2408 hypothetical protein MGC2408 q27.1 12477932 84291 AC061705;BC005835;BC012449;BC069005;CH471052;CR595932;CR620009;NM_032331 AAH05835;AAH12449;AAH69005;EAW78277;NP_115707;Q6NTG7;Q9BRZ8 Hs.146161 protein-coding 14493 1601930 MGC35440 hypothetical protein MGC35440 q13.11 12477932 147990 Q7Z4H5 AC007773;AF533711;BC029162;NM_153220 AAH29162;AAQ09024;NP_694952;Q7Z4H5;Q8N6Q4 Hs.194392 protein-coding 14607 1604033 MGAT4C MGAT4 family, member C ENCODES a protein that exhibits alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (inferred); metal ion binding (inferred); transferase activity, transferring hexosyl groups (inferred); INVOLVED IN carbohydrate metabolic process (inferred); cellular protein metabolic process (inferred); post-translational protein modification (inferred); PARTICIPATES IN N-linked glycan biosynthetic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); membrane (inferred); INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 12 12 12 q21 86035834 86903303 - 86373037 87232681 - 85976235 86838904 - 6480464;6907045;8554872 10570912;11530211;12477932;14702039;16344560;1736542;19240061;20379614;2187500;24324551;2541446;2542563;2649653;2829950;3099781;3264072;5701727;8093218;8673525;9109416 25834 F8VTY5;F8VWY2;Q9UBM8 AB024911;ABBA01053432;ABBA01053433;ABBA01053434;ABBA01053435;ABBA01053436;ABBA01053437;ABBA01053438;ABBA01053439;AC010196;AC016993;AC025157;AC079596;AC079865;AC087887;AC093122;AC128681;AC139663;AC139697;AK127727;AK299253;AMYH02026878;AMYH02026879;AMYH02026880;AMYH02026881;AMYH02026882;AMYH02026883;AMYH02026884;AMYH02026885;BC026068;BC035851;BC064141;BI667691;CH471054;DA795621;KF511185;KF511187;NM_013244;XM_005268776;XM_005268777;XM_005268779;XM_005268781 AAH26068;AAH64141;BAA83087;BAG54560;BAG61284;EAW97402;NP_037376;Q9UBM8;XP_005268833;XP_005268834;XP_005268836;XP_005268838 Hs.589093 1340531;1341374;1648198;1656350;1666513;1672775;1704538;1715831;1720565;1724189;1724545;1746243;1746245;1746351;1746353;1746415;1746875;1746877;1854761;2111508;2171715;2182878;2185357 D12S1068;D12S1286;D12S1289;D12S1302;D12S1719;D12S2039;D12S2076;D12S294;D12S67;G59236;G64421;G64422;G64423;G64449;G64514;G64785;G64786;RH119612;RH121230;RH122532;SHGC-83072;WI-18146;WI-22550 GNTIVH;HGNT-IV-H N-acetylglucosaminyltransferase IV homolog;N-acetylglucosaminyltransferase IVc;N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVc;OTTHUMP00000242278;UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVc;UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV;UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homolog;alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C;glcNAc-T IVc;gnT-IVc;mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) APPROVED protein-coding HGNC:30871 09575 607385 VALIDATED 737363 MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011] 2 2 2 q21.3 128724443 128919142 + 134877502 135212192 + 134119935 134454621 + 1580863;6480464;6907045;8554872 10395745;10580127;10700233;11864986;11872751;12477932;14702039;15014031;15044007;15313475;15809094;16344560;16467879;16638859;16924681;17451637;17488527;17878270;17971775;18649738;18845630;18931531;19225046;19236842;19403558;19787216;19846580;19910543;19911372;20089585;20117844;20468071;20584650;21115203;21631992;21676538;21908519;22537550;22589738;22614033;22780953;23005037;23107376;23351704;23357422;23563846;23671930;24399258;8292036;8619474;9110174;9235963 4249 Q09328;Q71VM6 ABBA01028192;AC013276;AC013718;AC016906;AC092623;AC115625;AF004882;AF055029;AF113921;AK056461;AK125207;AMYH02004832;AMYH02004833;BC041917;BU191961;BX647087;CH471058;D17716;DB223638;DB237089;NG_030324;NM_002410;XM_005263666;XM_005263668;XM_005263669;XM_005263670;XM_006712534;XM_006712535 AAB81939;AAD22449;AAI56314;AAI57049;AAX93248;AAY14747;AAY14791;BAA04570;EAX11657;EAX11658;NP_002401;Q09328;XP_005263723;XP_005263725;XP_005263726;XP_005263727;XP_006712597;XP_006712598 Hs.4988 1337735;1695296;1696438;1714865;1716317;1717257;1720005;1723987;1739923;1761549;1771494;1851276;1856900;2126599;2133546;2150757;2172421;2180459;2183897;7186148 A002K40;D2S1625E;D2S1989;D2S2122;D2S2507;D2S267;D2S2689;D2S368;RH118945;RH120427;RH121188;RH122043;RH123980;RH36589;RH41981;RH68210;SHGC-145545;SHGC-63014;SHGC-79738 DKFZp686B24166;FLJ31899;FLJ43217;GNT-V;GNT-VA N-acetylglucosaminyl-transferase V;OTTHUMP00000162459;alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A;alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase;glcNAc-T V;mannoside acetylglucosaminyltransferase 5;n-acetylglucosaminyltransferase v APPROVED protein-coding ENSG00000152127 HGNC:7049 03467 601774 REVIEWED 1602621 MGC50722 uncharacterized MGC50722 INTERACTS WITH C60 fullerene (ortholog) 9 9 9 q34 109692458 109715154 - 36342 59027 - 136281385 136304070 - 6480464 12477932 399693 Q8IVT4 ABBA01030069;ABBA01030070;AK125773;BC031926;BC042107;FP326719;NM_001291516;NM_203348;NR_111982 AAH31926;AAH42107;BAC86282;NP_001278445;NP_976223 Hs.530383 hypothetical protein LOC399693;uncharacterized protein LOC399693 APPROVED protein-coding ENSG00000260220 14668 VALIDATED 1602946 MGC70870 C-terminal binding protein 2 pseudogene 12477932;14702039;16344560 403340 Q8NAS8 ABBA01006223;ABBA01006224;AC011841;AK092162;BC063803;BC106037;DA695335;NR_003682 BAC03819 Hs.572501 1694690;2109513;5113787 G43532;MGC70870__7730;RH79776 pseudo 14702 VALIDATED 1348393 MGCR meningioma chromosome region ASSOCIATED WITH Meningioma, familial (inferred) 7240710 4252 HGNC:7053 607174 5133392 MGC39584 uncharacterized LOC441058 4 21 187767263 187794894 + 9781848 9821061 - 12477932 441058 Q8NCQ8 ABBA01132106;AC018687;AC018692;AC244032;AW303457;BC029568;LN608859;NR_038377 AAH29568 Hs.130535 1731779;2122338;2179385 D4S163;D4S3186;G01808 APPROVED ncrna 17542 VALIDATED 737343 MGST1 microsomal glutathione S-transferase 1 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012] 12 12 12 p12.3-p12.1 21643859 21661125 + 16500076 16530123 + 16347142 16377189 + 1580863;1358122;6480464;6907045 14576844 10095775;10524215;10673221;10777602;11034337;11587073;11752456;12359356;12477932;12818425;14726533;15338373;1544849;15489334;16384981;17483957;17714764;18781797;19343046;20195357;20727966;21139048;21963094;22589738;2307478;23314968;23805041;24324551;3372534;7566098;7663172;8812420 4257 F5GX73;F5H613;F5H6X2;F5H760;F5H7F6;P10620 AA314967;ABBA01067900;AC007528;AK291148;AK309707;AMYH02026106;AV655242;AW166965;AY368173;BC005923;BC056863;BE568125;BG569388;BG617746;BG778603;BT006982;CH471094;CR407629;H49331;J03746;NM_001260511;NM_001260512;NM_001267598;NM_020300;NM_145764;NM_145791;NM_145792;NR_048545;NR_048547;R86750;U46498;U46499;U71213;XM_006719079;XM_006719080 AAA35934;AAB17184;AAC50711;AAH05923;AAP35628;AAQ55111;BAF83837;CAG28557;EAW96362;EAW96363;EAW96364;EAW96365;EAW96366;EAW96367;EAW96368;EAW96369;NP_001247440;NP_001247441;NP_001254527;NP_064696;NP_665707;NP_665734;NP_665735;P10620;XP_006719142;XP_006719143 Hs.389700 1655061;1667317;1676720;1681320;1688973;1726121;1796320;2184028 D12S1936;G62228;MGST1_1547;RH17585;RH79624;RH80205;RH91391;SHGC-36494 GST12;MGC14525;MGST;MGST-I OTTHUMP00000239523;OTTHUMP00000239524;OTTHUMP00000239525;OTTHUMP00000239528;OTTHUMP00000239530;glutathione S-transferase 12;microsomal GST-1;microsomal GST-I APPROVED protein-coding ENSG00000008394 HGNC:7061 00705 138330 REVIEWED 1313067 MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008] 17 17 17 q25.2 71457555 71539960 + 74864798 74946472 + 76868716 76950393 + 6480464;6907045;8554872 11530211;12477932;12941944;14561752;14617637;14623122;16413118;16606368;16857188;1736542;18838383;19846580;19913121;20379614;20628086;2187500;22683750;22823124;23088713;23960081;24383474;24722188;2541446;2649653;2829950;3099781;3264072;8093218;8673525;9109416 146664 H3BQ65;H3BR20;Q3V5L5 AB109185;AB114297;AB235153;ABBA01028724;ABBA01028725;ABBA01028726;AC016168;AK123189;AMYH02034023;AMYH02034024;AW191036;BC036948;BC041577;BC062354;BC063862;BC144361;CH471099;NM_001199172;NM_144677;NM_198955;XM_005257065;XM_006721707;XM_006721708;XR_243634 AAH62354;AAH63862;AAI56824;BAC84969;BAD02406;BAE44474;EAW89457;EAW89458;EAW89459;EAW89460;NP_001186101;NP_653278;NP_945193;Q3V5L5;XP_005257122;XP_006721770;XP_006721771 Hs.144531 1336818;1703326;1711372 D17S751;SHGC-68567;SHGC-83342 FLJ25132;GnT-IX;GnT-VB;KIAA2008;glcNAc-T Vb;hGnTVb N-acetylglucosaminyl-transferase Vb;N-acetylglucosaminyltransferase IX;alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B;alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase B;beta(1,6)-N-acetylglucosaminyltransferase V;mannoside acetylglucosaminyltransferase 5B;mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B APPROVED protein-coding ENSG00000167889 HGNC:24140 14392 612441 VALIDATED 1353673 MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase Mahogunin (MGRN1) is a C3HC4 RING-containing protein with E3 ubiquitin ligase activity in vitro.[supplied by OMIM, Apr 2004] 16 16 16 p13.3 4883683 4949753 + 4674825 4740975 + 4624824 4690974 + 1580863;1641947;5144214;6480464;6907045;8554872 16638826;20654690 12438443;12477932;15146197;15489334;16344560;17229889;18029348;19056867;19320733;19322201;19524515;19549727;19690564;19703557;19737927;19946888;20379614;21139048;21862608;21890473;21906983;21963094;21987572;22053931;22268729;22493164;22797925;23000965;23253940;23756845;24036454;24556679;24769000;9628581 23295 B4DR12;E9PB19;K7EIM7;K7EJN3;K7EPJ5;K7ERA1;O60291 AB011116;ABBA01026781;ABBA01026782;ABBA01026783;AC023830;AK299052;AMYH02031326;AMYH02031327;BC007627;BC014199;BC050389;CH471112;CN314787;DA118421;DA590130;EF471397;EF471398;NM_001142289;NM_001142290;NM_001142291;NM_015246;NR_102267;XM_005255217;XM_005255218;XM_005255219;XM_005255220;XM_005255221;XM_006720871;XR_429639 AAH50389;ABO69623;ABO69624;BAA25470;BAG61124;EAW85279;EAW85280;EAW85281;EAW85282;NP_001135761;NP_001135762;NP_001135763;NP_056061;O60291;XP_005255274;XP_005255275;XP_005255276;XP_005255277;XP_005255278;XP_006720934 Hs.526494 1774024;2115589 RH66031;RH78602 KIAA0544;RNF156 E3 ubiquitin-protein ligase MGRN1;RING finger protein 156;mahogunin RING finger protein 1;mahogunin, ring finger 1;probable E3 ubiquitin-protein ligase MGRN1 APPROVED protein-coding ENSG00000102858 HGNC:20254 07397 607559 VALIDATED 732641 MGEA5 meningioma expressed antigen 5 (hyaluronidase) The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008] 10 10 10 q24.1-q24.3 97282941 97316962 - 103544200 103578930 - 101784443 101818709 - 2305957;2311625;6480464;8554872 16899550;18445751 11148210;11341771;11788610;12168954;12359146;12477932;14702039;15302935;15345747;15485860;15489334;16169070;16356930;16434389;16505006;16517082;17546623;18641620;19322201;19423084;19615732;19715310;19913121;19946888;20198314;20628086;20673219;20863279;21139048;21163940;21178104;21282530;21471514;21567137;21717526;21890473;21900206;21906983;21963094;22311971;22505724;22730328;22783592;22863883;22990118;23000965;24250222;24365779;24705316;24816145;9734811;9811929 10724 B4DYV7;H7C3X0;O60502 AB014579;ABBA01063186;ABBA01063187;ABBA01063188;AC010789;AF036144;AF307332;AK002091;AK027008;AK302626;AMYH02023681;BC001343;BC014201;BC032591;BC039583;BC047877;BQ016159;CH471066;DC353958;NM_001142434;NM_012215;XR_246060 AAD05385;AAG21428;AAH01343;AAH39583;AAH47877;BAA31654;BAG51014;BAG63869;EAW49741;EAW49742;EAW49743;EAW49744;NP_001135906;NP_036347;O60502 Hs.500842 1657319;1693714;1736092;2123535;2164128;2176862;2217606;5119449 D10S1358E;D10S1366E;D10S2155;D20S985;MGEA5_3775;RH66748;SHGC-58635;WI-14063 FLJ11229;FLJ23355;KIAA0679;MEA5;OGA NCOAT;O-GlcNAcase;OTTHUMP00000020345;OTTHUMP00000020346;OTTHUMP00000020347;bifunctional protein NCOAT;hyaluronidase in meningioma;meningioma-expressed antigen 5;nuclear cytoplasmic O-GlcNAcase and acetyltransferase APPROVED protein-coding ENSG00000198408 HGNC:7056 04949 604039 VALIDATED 1316675 MGME1 mitochondrial genome maintenance exonuclease 1 ENCODES a protein that exhibits single-stranded DNA exodeoxyribonuclease activity; INVOLVED IN DNA catabolic process, exonucleolytic; mitochondrial DNA replication; mitochondrial genome maintenance; ASSOCIATED WITH Arrhythmia (inferred); Autosomal recessive inheritance (inferred); Cerebellar hypoplasia (inferred); FOUND IN mitochondrion; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; calcitriol 20 20 20 p11.23 18024307 18046309 + 17949534 17971765 + 17968943 17991122 + 6480464;8699517;7240710;8554872 11780052;12477932;14702039;15489334;16189514;17207965;20877624;21139048;23313956;23358826;23434322;24986917 92667 Q5QPE7;Q5QPE8;Q9BQP7 ABBA01054034;ABBA01054035;AF306684;AF306685;AF306686;AK027503;AK309563;AK309995;AK310282;AK315532;AL121585;AMYH02036773;AMYH02036774;BC016869;CH471133;NM_052865;XM_005260866;XM_005260867;XM_005260870;XM_006723663 AAH16869;ADQ32296;BAB55160;BAG37912;EAX10260;EAX10261;EAX10262;NP_443097;Q9BQP7;XP_005260923;XP_005260924;XP_005260927;XP_006723726 Hs.320823 1336375;1647111;1678339 D20S885;RH94213;STS-AA022623 C20orf72;DDK1;FLJ14597;MTDPS11;bA504H3.4 OTTHUMP00000030341;OTTHUMP00000030342;hypothetical protein LOC92667;uncharacterized protein C20orf72 APPROVED protein-coding ENSG00000125871 HGNC:16205 12783 615076;615084 PROVISIONAL 737291 MGP matrix Gla protein The protein encoded by this gene is secreted and likely acts as an inhibitor of bone formation. The encoded protein is found in the organic matrix of bone and cartilage. Defects in this gene are a cause of Keutel syndrome (KS). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 12 12 12 p12.3 20179103 20183841 - 15034115 15038853 - 14881181 14885919 - 1582503;1582502;1600783;1582501;1582504;1582511;1580863;2293584;2293586;2293578;6480464;7240710;8699517;8554872 10460895;11073842;11358798;1399132;15045141;16973975;17960611;8200973;9916809 10737800;11684076;11741887;12207096;12477932;12721790;14587031;14963895;15280384;15489334;15607035;15744522;15864013;15982861;16210837;16392639;16712791;16735944;17014561;17509359;17643059;17670744;17724449;17848178;17890861;18222176;18286307;18369157;18401181;18841280;18971553;19151998;19190822;19199708;19327888;19350115;19352064;1939157;19453261;19661459;19712474;19730704;19913121;20133489;20368306;20452482;20479029;20628086;20673868;21143859;21294711;21724703;21765215;21870514;22115341;2216462;22239033;22796540;22819559;22992285;23046575;23062766;23110920;23223140;23233942;23307874;23504408;23563003;23677904;2394711;24029658;24228496;3387234;8061611;9610006 4256 H0YGZ6;P08493 ABBA01067886;AC007655;AK312029;AMYH02026096;AW997681;AY542304;BC005272;BC070314;BC093078;BF699158;BT006733;CB069816;CB108937;CH471094;CR450358;DQ004248;M55270;M58549;N85639;NG_023331;NM_000900;NM_001190839;X07362;X53331 AAB53765;AAB53766;AAH05272;AAH70314;AAH93078;AAP35379;AAT08173;AAY16978;ABM83421;ABM86633;BAG34966;CAA30287;CAA37418;CAG29354;EAW96333;EAW96334;NP_000891;NP_001177768;P08493 Hs.365706 1669006;1674553;1683112;1695028;1742909;2145144 D12S1925;G44728;GDB:214849;RH93429;SHGC-12684;STS-X53331 GIG36;MGLAP;NTI OTTHUMP00000239335;OTTHUMP00000239337;cell growth-inhibiting gene 36 protein APPROVED protein-coding ENSG00000111341 HGNC:7060 01112 154870;245150 REVIEWED 1344260 MHAC microhydranencephaly ASSOCIATED WITH LISSENCEPHALY 4 (inferred); Microhydranencephaly (inferred) 7240710 53341 1298279;1334547;1340954;1342288 D16S490;D16S497;D16S672;D16S748 HGNC:7065 605013;614019 1322562 MGST2 microsomal glutathione S-transferase 2 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2011] 4 4 4 q28.3 137919740 137958224 + 140586922 140661899 + 139665768 139740745 + 1580863;1358122;6480464;6907045 14576844 10673221;11322876;12477932;15489334;16169070;16344560;16498398;16773312;19343046;20379614;23409838;8703034;8889549;9092565;9278457;9302651 4258 Q99735 AA122237;ABBA01069968;ABBA01069969;AC108053;AC112236;AK130948;AK307231;AMYH02010202;AMYH02010203;AY341028;BC025416;BE312976;CH471056;CR407640;DB257575;GN344085;NM_001204366;NM_001204367;NM_001204368;NM_002413;U77604;XM_006714221 AAC51768;AAH25416;AAP88934;ABM84310;ABM87703;CAG28568;CAY55978;EAX05111;EAX05112;EAX05113;NP_001191295;NP_001191296;NP_001191297;NP_002404;Q99735;XP_006714284 Hs.81874 1757483;1769168 RH71258;SHGC-144854 FLJ27438;GST2;MGC14097;MGST-II OTTHUMP00000164539;OTTHUMP00000220226;OTTHUMP00000220227;microsomal GST-2;microsomal GST-II;truncated microsomal glutathione S-transferase 2 APPROVED protein-coding ENSG00000085871 HGNC:7063 03436 601733 REVIEWED 1350508 MHP2 migraine, hemiplegic 2 ASSOCIATED WITH Alternating hemiplegia of childhood (inferred); MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (inferred) 7240710 9403481 337931 HGNC:7069 104290;602481 1349036 MHS2 malignant hyperthermia susceptibility 2 ASSOCIATED WITH Malignant hyperthermia susceptibility type 2 (inferred) 7240710 1427885 4264 HGNC:7071 154275 735904 MGMT O-6-methylguanine-DNA methyltransferase ENCODES a protein that exhibits calcium ion binding (inferred); DNA binding (inferred); DNA-methyltransferase activity (inferred); INVOLVED IN cellular response to ionizing radiation (inferred); cellular response to organic cyclic compound (inferred); cellular response to oxidative stress (inferred); ASSOCIATED WITH Bile Duct Neoplasms; Brain Neoplasms; Breast Neoplasms; FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-colchicine; 1,2-dibromoethane 10 10 10 q26 124937282 125237646 + 131265454 131565783 + 129467190 129767519 + 1580863;2317637;2317628;2317636;2317664;2317686;2317690;2317691;2316960;2317340;2317635;2317681;2317693;2317684;2317667;2317672;2317675;2317632;2317688;2317648;2317661;1599637;2317662;6480464;8554872 11986189;12483540;12584572;14501508;14669534;14970867;15455350;15741301;15799820;15885889;16014702;16844323;16886601;17234722;17278096;17550320;18158568;18708406;19118063;19274096;20182810;9393761 10585585;10606635;10667577;10747039;11062157;11548124;11564893;11719438;11802813;11872960;11911967;11956078;11980845;12016156;12087469;12119040;12170182;12185595;12402349;12469220;12477932;12503076;12549918;12592365;12624503;12720298;12727789;12849917;12883749;12896905;12963053;1384961;1387001;1423836;14522053;14614014;14647440;15041700;15140540;15221026;15225156;15254699;15302935;15309527;15327835;15332332;15455376;1547538;15489334;15657354;15735757;15765097;15785933;15800999;15802298;15809347;15809756;15831531;15915369;15943786;15964013;16000301;16007001;16030105;16030112;16030116;16038584;16094607;16174854;16195237;16203797;16226712;16284370;16285744;1635460;16369171;16373199;16385451;16385589;16436636;16517062;16533425;16609022;16633920;16733832;16777993;16788379;16791592;16996781;17040931;17138560;17158087;17164358;17192931;17219056;17276933;17285603;17342321;17352030;17451198;17479411;17482892;17487400;17493032;17500046;17523078;17547775;17569599;17597106;17621591;17652530;17666372;17691113;17700363;17712558;17721049;17898525;17938272;17957803;17965865;18004504;18006925;18028895;18086781;18089777;18091318;18156172;18192966;18199718;18204074;18240147;18268114;18270339;18349282;18353991;18386788;18400046;18445844;18467255;18509181;18516290;18546261;18555750;18556773;18580490;18584351;18616639;18676680;18712569;18803403;18812520;18830187;18830263;18952979;18973931;18990748;18992637;18997474;19019173;19019175;19027227;19047179;19052983;19056673;19056675;19060925;19061338;19079989;19100509;19107910;19116388;19124499;19148529;19161160;19164452;19170196;19179423;19224763;19237606;19305157;19309276;19339270;19356788;19451595;19513524;19536092;19544111;19589246;19589911;19617759;19625176;19656999;19667985;19692168;19695681;19724855;19734844;19740564;19741564;19773381;19787267;19789190;19789298;19805672;19807915;19809523;19826048;19832838;19834398;19856394;19857042;1985934;19860620;19861461;19892775;19901104;19902366;19913121;19946888;19954624;19956635;19996271;20026607;20044616;20044995;20061190;20091185;20096652;20131314;20150365;20150366;20150378;20150384;20167086;20167816;20179017;20192566;20202118;20206583;20214209;20223788;20232102;20232390;20305537;20309962;20354736;20372840;20378691;20379614;20412404;20428822;20451846;20453000;20457618;20465388;20470789;20496165;20552207;20556478;20585787;20589656;20593220;20627446;20628086;20644561;20650735;20652362;20682398;20682983;20686820;20708344;20731661;20817763;20857319;20935218;20947886;20979814;21029181;21061089;21075068;21107199;21140203;21148162;21200087;21220612;21226457;21249131;21263241;21269507;21274674;21287394;21288129;21311951;21318329;21331613;21355081;21358597;21365007;21375764;21394635;21405945;21418965;21424568;21425258;21450028;21528672;21626073;21667225;21674174;21706233;21725802;21747645;21756781;21789683;21792693;21792731;21822153;21829728;21865140;2188979;21890473;21895872;21910919;21914791;21922591;21928112;21957016;21968944;22001163;22012047;22019339;22020830;22040408;22083523;22097602;22101741;22116316;22139906;22213062;22228432;22246327;22262716;22264301;22270848;22274924;22280500;22281465;22287028;22288845;22322613;22326863;22335907;22380407;22390413;22414280;22430443;22454423;22481706;22505724;22544212;22549447;22614944;22655594;22672670;22674304;22675172;22701311;22772967;22797801;22798502;22810209;22810491;22875158;22915192;22975219;22976800;22986464;22994708;23000965;23041956;23042021;23047291;23053494;23065697;23110891;23135024;23192594;23223340;23244153;23245659;23275143;23300791;23328811;23333005;23335782;23340988;23373238;23387271;23397067;23408861;23412991;23422094;23429602;23494873;23505468;23532906;2359121;23640413;23662801;23683164;23705976;23716983;23760981;23859014;23934736;2394694;23970362;23974656;24004112;2405387;24068788;24071855;24084248;24086261;24086516;24160898;24163400;24203816;24238921;24284332;24366688;24374955;24380367;24388682;24390665;24398011;24454798;24519900;24853176;2947677;6690082;7614699;7678140;7756667;7766621;7893370;7954470;8202360;8324751;8434121;8472340;8573590;8612308;9363996;9494526 4255 B4DEE8;P16455 ABBA01009109;ABBA01009110;ABBA01009111;ABBA01009112;ABBA01009113;ABBA01009114;ABBA01009115;AK293593;AL157832;AL353725;AL355531;AMYH02024030;AMYH02024031;AMYH02024032;AMYH02024033;BC000824;BI520029;BT006714;CH471066;DC387686;KC249995;M29971;M31767;M60761;NM_002412;S52068;X54228;XM_005252682;XM_006717863 AAA52317;AAA59594;AAA59596;AAD13867;AAH00824;AAP35360;ABM81649;ABM84827;AGQ03777;BAG57059;CAA38137;EAW49166;EAW49167;NP_002403;P16455;XP_005252739;XP_006717926 Hs.501522 1660982;1758611;1788332;1788334;1789867;1789869;1792314;2108259 G38294;G67483;G67484;MGMT_7829;PMC140684P9;SHGC-148919;csnpmgmt-pcr3-1;csnpmgmt-pcr4-1 O6-MGMT 0-6-methylguanine-dna methyltransferase;6-O-methylguanine-DNA methyltransferase;O-6-methylguanine-DNA-alkyltransferase;O6-methylguanine-DNA methyltransferase;OTTHUMP00000020741;methylated-DNA--protein-cysteine methyltransferase;methylguanine-DNA methyltransferase protein-coding HGNC:7059 01135 156569 VALIDATED 1352365 MHS4 malignant hyperthermia susceptibility 4 ASSOCIATED WITH Malignant hyperthermia susceptibility type 4 (inferred) 7240710 7887423 4265 HGNC:7073 600467 1350823 MHS6 malignant hyperthermia susceptibility 6 ASSOCIATED WITH Malignant hyperthermia susceptibility type 6 (inferred) 7240710 9175745 4266 1337476;1340664;7184468 D5S398;D5S419 HGNC:7075 601888 7243373 MIA-RAB4B MIA-RAB4B readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring MIA (melanoma inhibitory activity) and RAB4B (RAB4B, member RAS oncogene family) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 19 19 q 41281442 41302849 + 40775537 40796944 + 6480464;8554872 20967262;22080838;22446962 100529262 W4VSR3 ABBA01040789;ABBA01040790;ABBA01040791;AC008537;AC020945;AC098779;AF087861;AK302147;AMYH02036124;AMYH02036125;NR_037775 AAP97171;BAG63518 Hs.631539 ncrna HGNC:48352 VALIDATED 1314953 MGST3 microsomal glutathione S-transferase 3 This gene encodes a member of the MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) protein family. Members of this family are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides.[provided by RefSeq, May 2011] 1 1 1 q23 138705621 138730025 + 165600110 165625373 + 165630873 165656136 + 1580863;6480464;6907045 10673221;12477932;12898215;15489334;16169070;16710414;17207965;17719568;18781797;19064610;19322201;19343046;19471022;19536175;19946888;20360068;20379614;21116278;21139048;21853274;21890473;21906983;21963094;22939629;23874603;24250222;8125298;9278457 4259 O14880;Q5VV87;Q5VV89 ABBA01047280;AF026977;AI591182;AK223012;AK312103;AL356441;AL451074;AMYH02002065;AY388493;BC000505;BC003034;BC005964;BI666647;CH471067;CR450359;DQ185045;NM_004528;XM_005245174 AAB82609;AAH00505;AAH03034;AAH05964;AAQ81301;ABD14425;ADQ33187;ADZ15782;BAD96732;BAG35039;CAG29355;EAW90752;EAW90753;EAW90754;EAW90755;EAW90756;EAW90757;NP_004519;O14880;XP_005245231 Hs.191734;Hs.732686 1753739;2115948;2136108 RH41830;SHGC-89234;STS-AA027186 GST-III OTTHUMP00000032567;OTTHUMP00000032568;OTTHUMP00000032599;OTTHUMP00000032600;OTTHUMP00000032601;OTTHUMP00000197144;microsomal GST-3;microsomal GST-III;microsomal glutathione S-transferase III APPROVED protein-coding ENSG00000143198 HGNC:7064 05192 604564 REVIEWED 732144 MIA melanoma inhibitory activity ENCODES a protein that exhibits growth factor activity (inferred); INVOLVED IN cell proliferation (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene; manganese atom 19 19 19 q13.2 38081704 38083799 + 41281082 41283398 + 40775177 40777493 + 737744;1580863;6480464 12485990 11157741;11331761;11991352;12014625;12230496;12477932;12665595;15057037;15201995;15208686;15340161;15386421;15489334;15547763;15760338;16331256;16341674;17348447;17599744;17661202;18181974;18477894;18494554;18616526;19521988;19807924;19852767;20164682;20514540;21277254;21487066;21540751;21658116;21858537;22446962;23664187;23672612;23824909;24372647;24608986;7923218;8550608;8661134;8889548 8190 M0QZM4;M0R0T9;M0R343;Q16674 ABBA01040789;AC020945;AC098779;AMYH02036124;BC005910;BM715936;BM856478;BQ681978;BT007044;BX280685;CH471126;CR541648;DV462488;NM_001202553;NM_006533;X75450;X84707 AAH05910;AAP35693;ADZ16074;CAA53203;CAA59195;CAG46449;EAW56997;EAW56998;EAW56999;NP_001189482;NP_006524;Q16674 Hs.646364 CD-RAP cartilage derived retinoic acid sensitive protein;melanoma inhibitory activity protein;melanoma-derived growth regulatory protein protein-coding ENSG00000261857 HGNC:7076 03216 601340 VALIDATED 1319985 MIA2 melanoma inhibitory activity 2 INVOLVED IN cholesterol homeostasis (inferred); triglyceride homeostasis (inferred); FOUND IN endoplasmic reticulum exit site; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 14 14 14 q13.2 19567770 19587221 + 39703125 39722575 + 39233921 39253371 + 6480464 11076863;11230166;12477932;12586826;14702039;15489336;16381901;17881540;22120627;22745667;23511560 117153 G3V3F6;G3V4M1;Q96PC5 ABBA01061551;ABBA01061552;AF390175;AK026057;AK314069;AL132639;AMYH02029052;BC035981;BC130537;BC130563;BX495701;BX648228;CH471078;NM_054024 AAH35981;AAI30538;AAI30564;AAL26990;ADR83104;BAB15339;BAG36770;CAL38130;CAL38459;EAW65818;EAW65819;NP_473365;Q96PC5 Hs.287694 1728469 G63671 FLJ22404 OTTHUMP00000178898;melanoma inhibitory activity protein 2 protein-coding ENSG00000150526 HGNC:18432 12149 608001 VALIDATED 1606629 MIAT myocardial infarction associated transcript (non-protein coding) This gene encodes a non-coding RNA that may constitute a component of the nuclear matrix. Altered expression of this locus has been reported to be associated with a susceptibility to myocardial infarction.[provided by RefSeq, Feb 2010] 22 22 22 q12.1 10857234 10876230 + 27053446 27072441 + 26657482 26676478 + 6480464;7240710;8554872 14702039;16344560;17066261;17623775;21897333;23251661;23628989;23726844;8889548 440823 AB263414;AB263415;AB263416;AB263417;ABBA01055203;ABBA01055204;ABBA01055205;AK095686;AK098753;AK098833;AK127256;AMYH02038168;BM677447;DA213485;HG512143;HG512148;HG512149;HG512151;HG512152;HG512153;HG512154;HG512155;HG512156;KF511428;NG_016621;NR_003491;NR_033319;NR_033320;NR_033321;Z99774 Hs.517502 1646077;1681058;1711470;1711478;1770910;1850813;2135423;2159082;2185686;5023228 A007B38;D22S1103;D22S1674;D22S985E;G49192;G49196;IB1309;RH28624;RH47424;SGC30519 C22orf35;FLJ25887;FLJ25967;FLJ38367;FLJ45323;LINC00066;NCRNA00066;Rncr2 GOMAFU APPROVED ncrna ENSG00000225783 HGNC:33425 608446;611082 REVIEWED 8661811 MIATNB MIAT neighbor (non-protein coding) 22 q12.1 26774184 26778585 + 8889548 102724827 AA595535;ABBA01055207;AK026502;AMYH02038170;BM709811;BQ000485;BQ581362;HG512162;HG512163;NR_110543;XR_425315;XR_430428;XR_433688;Z95889;Z99774 Hs.642767 ncrna HGNC:50731 VALIDATED 1605216 MIA3 melanoma inhibitory activity family, member 3 INVOLVED IN exocytosis; negative regulation of cell adhesion; negative regulation of cell migration; FOUND IN endoplasmic reticulum membrane; integral component of membrane; membrane; INTERACTS WITH cyclosporin A; methyl methanesulfonate; valproic acid 1 1 1 q41 196010506 196060426 + 222791444 222841351 + 222618102 222668009 + 6480464 12477932;12975309;14702039;15183315;16344560;17044017;17634449;17726152;17786351;19198609;19269366;19336575;19946888;19955471;20379614;20694560;20738937;20971364;21078624;21139048;21264445;21378990;21890473;22114354;22577832;24125424;24255178;24550385;24816145;24889917;9039502 375056 H7C0T4;Q5JRA6 ABBA01048046;AK025122;AK025506;AK026489;AK096526;AK290335;AK296712;AK307412;AL592148;AMYH02002749;AMYH02002750;AX775845;AY359091;BC031805;BC047116;BG429750;BP423646;CH471100;CK724924;CQ834356;D87742;DA040423;DQ166034;KF459535;L34688;NM_001300867;NM_198551;XM_005273121;XM_005273122;XM_006711304 AAB00324;AAH47116;AAQ89449;AAZ95512;BAA13448;BAC04810;BAF83024;BAH12416;CAE11622;CAH05393;EAW93267;NP_001287796;NP_940953;Q5JRA6;XP_005273178;XP_005273179;XP_006711367 Hs.118474 1646755;1647866;1648374;1719395;2117623;2131929;2135457;2140001;2140003;2144282;2146715;2185678;5022200 A005Z29;D13S918;D1S2190;D1S2529;G20628;G29198;L18426;RH12251;RH123426;SGC34788;SHGC-57047;SHGC-76389;SHGC-76396 ARNT;D320;FLJ21469;FLJ39207;KIAA0268;RP11-378J18.4;TANGO1;UNQ6077 C219 reactive peptide;C219-reactive peptide;OTTHUMP00000035650;OTTHUMP00000035767;TANGO;melanoma inhibitory activity protein 3;transport and Golgi organization protein 1 protein-coding ENSG00000154305 HGNC:24008 613455 VALIDATED 1345216 MIC12 antigen identified by monoclonal antibody 30.2A8 3979119 4273 HGNC:7079 107254 1351247 MIC7 antigen identified by monoclonal antibody 28.3.7 3871395 4270 HGNC:7088 108990 1604315 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ENCODES a protein that exhibits actin binding; FAD binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen; INVOLVED IN actin filament depolymerization; oxidation-reduction process; sulfur oxidation (ortholog); FOUND IN cytoplasm; INTERACTS WITH benzo[a]pyrene; calcitriol; copper(2+) sulfate 6 6 6 q21 110511849 110523786 - 109765265 109787171 - 109444062 109465968 - 6480464 10808124;11214971;11827972;12110185;12477932;12788069;14574404;14702039;15489334;15694364;15796781;17081983;17662518;19913121;20106972;20628086;20881960;21638339;21730291;21890473;21900206;21906983;22331357;22505724;24816145;8125298 64780 H0Y6Z4;Q5TED7;Q8TDZ2 AB048948;ABBA01026126;AK021999;AK024500;AK025392;AK160384;AK225049;AK296284;AL109947;AL122098;AMYH02014279;BC009972;BC036514;BC042144;BC052983;CH471051;NM_001159291;NM_001286613;NM_022765 AAH09972;AAH42144;AAH52983;BAB13949;BAB15124;BAB15790;BAB86289;BAD18727;BAH12301;CAB59266;EAW48339;EAW48340;EAW48341;EAW48342;EAW48343;EAW48344;EAW48345;NP_001152763;NP_001273542;NP_073602;Q8TDZ2 Hs.33476 DKFZp434B1517;FLJ11937;FLJ21739;MICAL-1 CasL interacting molecule;MICAL;NEDD9 interacting protein with calponin homology and LIM domains;NEDD9-interacting protein with calponin homology and LIM domains;NICAL;OTTHUMP00000016969;microtubule associated monoxygenase, calponin and LIM domain containing 1;molecule interacting with CasL protein 1;protein-methionine sulfoxide oxidase MICAL1 APPROVED protein-coding ENSG00000135596 HGNC:20619 06183 607129 VALIDATED 1349487 MIB2 mindbomb E3 ubiquitin protein ligase 2 ENCODES a protein that exhibits signal transducer activity; INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; FOUND IN early endosome (inferred); ubiquitin ligase complex (inferred); INTERACTS WITH 17alpha-ethynylestradiol; aflatoxin B1; benzo[a]pyrene diol epoxide I 1 1 1 p36.33 1016532 1030942 - 1550795 1565990 + 1614969 1630610 + 1331357;737633;1580863;6480464 12477932;12761501 11076863;14507647;14702039;15489334;15489336;15824097;15869411;15920166;16344560;16381901;16715130;17081983;17962190;19690564;21890473;21896478;21903422 142678 D6R9Q6;D6RAZ0;D6RDI1;D6RE96;D6RED3;D6RFJ2;D6RHY5;E9PD12;F2Z2L2;H0YAM8;J3QLE0;J3QR95;Q96AX9 AB064367;AB074480;AB076691;AB076692;AB076693;AB097000;ABBA01016060;ABBA01016061;ABBA01016062;AK000655;AK091610;AK095914;AK096295;AK097106;AK098785;AK122751;AK122863;AK123400;AK128167;AK128553;AK293642;AK302757;AK309362;AL691432;AL834527;AMYH02000107;AMYH02000108;BC016490;BC035078;BC035109;BC037542;CH471183;DA391220;DA767833;DC402226;FO704657;NM_001170686;NM_001170687;NM_001170688;NM_001170689;NM_080875;NR_033183;XM_006710366;XM_006710367;XM_006710368;XM_006710369;XM_006710370;XM_006710371;XM_006710372;XM_006710373;XM_006710374;XM_006710375 AAH16490;AAH37542;BAB82979;BAB92950;BAC00992;BAC00993;BAC00994;BAC03707;BAC04646;BAC04752;BAC04952;BAC05413;BAC77353;BAG53705;BAG53766;BAG54643;BAG57097;BAG63969;CAD39183;CAL37514;CAL38489;EAW56174;EAW56175;EAW56176;EAW56177;EAW56178;EAW56179;NP_001164157;NP_001164158;NP_001164159;NP_001164160;NP_543151;Q96AX9;XP_006710429;XP_006710430;XP_006710431;XP_006710432;XP_006710433;XP_006710434;XP_006710435;XP_006710436;XP_006710437;XP_006710438 Hs.135805;Hs.593430 1647597;1658802;1757827;2143645;2164690;5022200;5022578 A002R14;D1S1423;L18426;SHGC-146646;SHGC-74077;SHGC-74100;SHGC-74110 FLJ20648;FLJ39787;FLJ41406;ZZANK1;ZZZ5 E3 ubiquitin-protein ligase MIB2;OTTHUMP00000083363;OTTHUMP00000083364;OTTHUMP00000083365;OTTHUMP00000083366;OTTHUMP00000220661;OTTHUMP00000220662;OTTHUMP00000220663;OTTHUMP00000220665;OTTHUMP00000220666;OTTHUMP00000220675;mind bomb homolog 2;mindbomb homolog 2;novel zinc finger protein;novelzin;putative NF-kappa-B-activating protein 002N;skeletrophin;zinc finger ZZ type with ankyrin repeat domain protein 1;zinc finger, ZZ type with ankyrin repeat domain 1 APPROVED protein-coding ENSG00000197530 HGNC:30577 15905 611141 VALIDATED 1602728 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 ENCODES a protein that exhibits actin binding; NADPH:sulfur oxidoreductase activity; FAD binding (ortholog); INVOLVED IN actin filament depolymerization; cytoskeleton organization; positive regulation of transcription via serum response element binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3,4-dichloroaniline 11 11 11 p15.3 12257370 12410639 + 12132138 12285335 + 12110576 12263790 + 6480464;8554872 11827452;12110185;12477932;14702039;15489334;15694364;16344560;16675569;20379614;21139048;21906983;22331357;23534349;24440334;8619474;9110174;9872452 9645 E9PJB0;E9PKI3;E9PL42;E9PNC3;E9PRE0;O94851 AB018293;AB110785;AB110786;ABBA01061137;ABBA01061138;AC025106;AC079329;AF052170;AK025186;AK026116;AK090550;AK122821;AK125552;AK125785;AK127301;AK294845;AK302580;AK302893;AL046982;AMYH02024339;AMYH02024340;AMYH02024341;AMYH02024342;BC015755;BC017104;BC044577;BC048206;BC063589;BG939697;BK000462;BX538021;BX641163;CH471064;CQ799090;CQ799092;DA246062;HB650481;HB650483;NM_001282663;NM_001282664;NM_001282665;NM_001282666;NM_001282667;NM_001282668;NM_014632;XM_005253249;XM_005253251;XM_006718391;XM_006718392;XM_006718393 AAH44577;BAA34470;BAD83656;BAD83657;BAG57951;BAG63835;BAH13835;CAD97967;CAE46072;CAG27589;CAG27590;CBB98512;CBB98513;DAA01341;EAW68528;EAW68529;EAW68530;EAW68531;NP_001269592;NP_001269593;NP_001269594;NP_001269595;NP_001269596;NP_001269597;NP_055447;O94851;XP_005253306;XP_005253308;XP_006718454;XP_006718455;XP_006718456 Hs.501928 1691076;1712977;1720007;1731275;1737171;1737669;1755497;1771379;1771381;1774942;1782508;1858088;1858090;2150801;2152571 A001T08;D11S3035;D11S3273;D11S4060;D11S4288;D11S660;G19617;HSC05H082;RH120578;RH123981;RH78235;RH92815;SHGC-142358;SHGC-81234;WI-22148 DKFZp686H03148;DKFZp686H2469;KIAA0750;MICAL-2;MICAL2PV1;MICAL2PV2 OTTHUMP00000230856;OTTHUMP00000230857;flavoprotein oxidoreductase MICAL2;microtubule associated monoxygenase, calponin and LIM domain containing 2;molecule interacting with CasL protein 2;protein-methionine sulfoxide oxidase MICAL2 APPROVED protein-coding ENSG00000133816 HGNC:24693 10085 608881 VALIDATED 1602200 MICALL1 MICAL-like 1 ENCODES a protein that exhibits identical protein binding; phosphatidic acid binding; Rab GTPase binding; INVOLVED IN endocytosis; membrane tubulation; protein localization to endosome; FOUND IN extrinsic component of membrane; late endosome; recycling endosome membrane; INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 22 22 22 q13.1 22104063 22139744 + 38302155 38338465 + 37906148 37942458 + 6480464 10591208;11258795;12058051;12110185;12477932;12788069;14702039;15302935;15324660;15461802;15489334;19041431;19531213;19864458;19945174;21139048;21795389;21951725;22284051;23000965;23596323;24163370 85377 B0QY86;B0QY91;H0Y6J8;Q68D58;Q8N3F8 AB051455;ABBA01055493;ABBA01055494;AJ496196;AK056603;AK127819;AL022311;AL833860;AL834373;AMYH02038343;AMYH02038344;AMYH02038345;AMYH02038346;BC001090;BC082243;BK000466;CA307559;CA432878;CB997694;CH471095;CR456437;CR749566;DB476014;DR004306;NM_033386;XM_005261791;XM_005261792;XM_006724345 AAH01090;AAH82243;AAI42606;AAI43051;AAI46384;AAI48805;BAB33338;CAD38718;CAD39036;CAD42713;CAG30323;CAH18362;DAA01345;EAW60199;NP_203744;Q8N3F8;XP_005261848;XP_005261849;XP_006724408 Hs.517610 1676756;1687385;1776623;5015619 D11S3114;RH28521;RH92865;SHGC-33005 DKFZp686M2226;FLJ45921;KIAA1668;MICAL-L1;MIRAB13 MICAL-like protein 1;OTTHUMP00000198206;molecule interacting with Rab13 protein-coding ENSG00000100139 HGNC:29804 11363 VALIDATED 734078 MGLL monoglyceride lipase This gene encodes a serine hydrolase of the AB hydrolase superfamily that catalyzes the conversion of monoacylglycerides to free fatty acids and glycerol. The encoded protein plays a critical role in several physiological processes including pain and nociperception through hydrolysis of the endocannabinoid 2-arachidonoylglycerol. Expression of this gene may play a role in cancer tumorigenesis and metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 3 3 3 q21.3 125834761 125969898 - 127407905 127542093 - 127689062 127823250 - 1580863;6480464;8554872 11470505;12477932;14702039;15342556;15489334;16169070;16344560;16806233;17621164;18452279;18721756;19014633;19233690;19913121;19957260;19962385;20079333;20464001;20628086;20855465;20976246;21118518;21308848;21543155;21802006;22349814;22664939;22827915;23455058;23509962;23553709;24368842;24593280;8619474;8889548;9110174;9495531 11343 B2ZGL7;C9J8Q3;C9JAM4;E7EWX8;H7C4E0;H7C599;H7C5K5;Q99685 ABBA01020884;AC023593;AC117480;AF131821;AI125141;AI379999;AJ270950;AK025983;AK026389;AK091314;AK093841;AK125135;AK304844;AK310874;AK315529;AL365376;AL833254;AMYH02007606;AMYH02007607;AMYH02007608;AMYH02007609;AW166623;AY172950;BC000551;BC006230;BC047298;BC073823;BE302457;BG035493;BG249567;BM051374;BM669411;BP307995;BX403703;BX640777;CH471052;CR456835;DA240965;EU660904;HB974099;HB974261;HD031509;HD031671;NM_001003794;NM_001256585;NM_007283;U67963;XM_005247093;XM_005247094 AAB39616;AAH00551;AAH06230;AAO45694;ABM82881;ABM86067;ACD37712;BAG37910;BAG52334;BAH14267;CAC43316;CAE45873;CAG33116;CBG21711;CBG21792;CBV34969;CBV35050;EAW79329;EAW79330;EAW79331;NP_001003794;NP_001243514;NP_009214;Q99685;XP_005247150;XP_005247151 Hs.277035 1658916;1670929;1671319;1727107;1728637;1778230;1852388;2121129;2143083;2145668;2164592;2187192;5015861;5019070;5024039;5037552;5123905;7185938 D10S16;D16S325;D3S3895;D3S3900;D8S2279;G09417;G30009;G44334;G62957;G63610;RH11571;RH11831;SGC32737;SHGC-31856;SHGC-77305;SHGC-77310;SHGC-77321 HU-K5;HUK5;MAGL;MGL OTTHUMP00000216063;lysophospholipase homolog;lysophospholipase-like;monoacylglycerol lipase APPROVED protein-coding ENSG00000074416 HGNC:17038 17574 609699 REVIEWED 1602850 MICALCL MICAL C-terminal like ENCODES a protein that exhibits mitogen-activated protein kinase binding (ortholog); INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); spermatogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH all-trans-retinoic acid; disodium selenite; silicon dioxide 11 11 11 p15.3 12433754 12506014 + 12308447 12383687 + 12286900 12362140 + 6480464;8554872 12110185;14702039;15694364;20379614 84953 E9PRG5;Q6ZW33 ABBA01061135;ABBA01061136;ABBA01061137;AC025300;AK027872;AK123671;AMYH02024342;AMYH02024343;BK000463;CH471064;NM_032867;XM_005253178 AAI68365;BAB55422;BAC85674;DAA01342;EAW68527;NP_116256;Q6ZW33;XP_005253235 Hs.128196 1678979 RH92025 Ebitein1;FLJ14966 ERK2-binding testicular protein 1;MICAL C-terminal-like protein;OTTHUMP00000230951;ebitein-1 protein-coding ENSG00000133808 HGNC:25933 08610 612355 VALIDATED 1316242 MIB1 mindbomb E3 ubiquitin protein ligase 1 This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013] 18 18 18 q11.2 16127511 16257232 + 19321290 19450918 + 21741329 21870957 + 1580863;1334454;6480464;6484113;8699517;7240710;8554872 12530964 10718198;11812785;12351649;12477932;14702039;15048887;15489334;16196087;16857196;17003037;17324930;17390041;18029348;19690564;19710364;20018188;20360068;20639865;20720151;20972266;21139048;21875946;21890473;21896478;21903422;21906983;21948523;21956701;21963094;21985982;21987572;22053931;22184009;22505724;23000965;23314057;23442362;23443559;23478405;23615451;24121310;24239288;24250222;25015289;25077370 57534 Q86YT6 AB037744;ABBA01022670;ABBA01022671;ABBA01022672;ABBA01022673;ABBA01022674;AC091038;AC103987;AK027338;AK075157;AK091266;AL713705;AMYH02034384;AMYH02034385;AMYH02034386;AY147849;AY149908;BC022403;BC110581;BC110582;CH471088;CR749635;EF444995;HQ234313;NG_033272;NM_020774 AAH22403;AAI10582;AAI10583;AAN18023;AAN75493;ACA06016;BAA92561;BAC11439;BAG52320;CAD28502;CAH18429;EAX01132;NP_065825;Q86YT6 Hs.140903 1672500;1675551;1677957;1690007;1778999;2121459;2141835;2152713;2170973;2172222;5019621 A005C25;D18S1306;G32226;RH36400;RH47428;RH65843;RH92942;RH93663;RH94015;SHGC-34898;SHGC-35703 DIP-1;DIP1;DKFZp686I0769;DKFZp761M1710;FLJ90676;LVNC7;MGC129659;MGC129660;MIB;ZZANK2;ZZZ6 DAPK-interacting protein 1;E3 ubiquitin-protein ligase MIB1;OTTHUMP00000162549;mind bomb homolog 1;mindbomb homolog 1;ubiquitin ligase mind bomb;ubiquitin ligase protein MIB1;zinc finger ZZ type with ankyrin repeat domain protein 2 APPROVED protein-coding ENSG00000101752 HGNC:21086 06660 608677;615092 REVIEWED 1344876 MICC MHC class I polypeptide-related sequence C (pseudogene) 6 6 6 p22.1 31962932 31982938 + 30382490 30387543 + 30414713 30419766 + 21912425;8022771 100129192 ABBA01038042;AL662822;AL662873;AL844203;AMYH02013431;BX294158;BX927214;CR759832;CR759890;CR812479;NG_027534 1651202;2106171 D6S2925;RH35725 PERB11.3 APPROVED pseudo HGNC:7092 INFERRED 1346954 MICE MHC class I polypeptide-related sequence E (pseudogene) 6 6 6 p21.3 31312663 31320313 - 29709234 29716880 - 29741457 29749103 - 10331161 4280 ABBA01038036;AF055066;AL645939;AL669813;AL844851;AMYH02013419;BX005428;BX927182;BX927250;CR753818;CR788234;NG_002916 1790871;2220090;7184079;7184130 D6S2707;D6S2864 PERB11.5;dJ377H14.7 APPROVED pseudo HGNC:7094 INFERRED 1344366 MICD MHC class I polypeptide-related sequence D (pseudogene) 6 6 6 p21.3 31536340 31541710 - 29938149 29943522 - 29970372 29975745 - 10557312;20593013;8022771 4279 AB023056;ABBA01038041;AF055066;AL645935;AL671277;AL845454;AMYH02013426;BX005091;BX927229;CR382333;CR388205;CR388220;CR759762;NG_015983 1732099;7184824 D6S510 PERB11.4 APPROVED pseudo HGNC:7093 INFERRED 1603016 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ENCODES a protein that exhibits actin binding; FAD binding (ortholog); oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (ortholog); INVOLVED IN actin filament depolymerization; cytoskeleton organization; oxidation-reduction process (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (+)-catechin; (-)-demecolcine; benzo[a]pyrene 22 22 22 q11.21 1890073 2127001 - 18270415 18507325 - 17787649 18024559 - 6480464;8554872 10048485;10591208;10718198;10737800;11181995;12110185;12477932;14702039;15146197;15302935;15461802;15489334;15694364;16344560;17081983;18854154;20360068;20379614;21139048;21596566;22001757;22385522;22990118;23509613;24023788 57553 C9J922;E9PP85;J3KRP8;J3KSK6;J3KTB6;J3QLA3;J3QQT0;J3QR21;Q7RTP6 AB020626;AB037785;ABBA01001425;ABBA01001426;ABBA01001427;ABBA01001428;ABBA01001429;AC016026;AC016027;AK023678;AK025369;AK094822;AK124853;AK126925;AK127487;AK289506;AK295978;AMYH02038017;AMYH02038018;AMYH02038019;AMYH02038020;BC006562;BC035213;BC046364;BC047315;BC064400;BC085009;BC157876;BC171887;BF928259;BK000464;BK000465;BU617485;BX647382;CH471193;CN425716;CR456364;CR976532;DA531335;DR731344;KC877929;NM_001122731;NM_001136004;NM_015241;XM_005261262;XM_006724081;XM_006724082;XM_006724083;XM_006724084;XM_006724085;XM_006724086;XM_006724087;XM_006724088;XM_006724089;XR_430392;XR_430393 AAH06562;AAH85009;AAI57877;AAI71887;BAA74842;BAA92602;BAF82195;BAG10388;BAG58753;CAG30250;CAK54648;CAK54947;DAA01343;DAA01344;EAW57777;EAW57779;EAW57780;EAW57781;NP_001116203;NP_001129476;NP_056056;Q7RTP6;XP_005261319;XP_006724144;XP_006724145;XP_006724146;XP_006724147;XP_006724148;XP_006724149;XP_006724150;XP_006724151;XP_006724152 Hs.528024 1653943;1656111;1681756;1684303;1695870;1703240;1703684;1727859;1728567;1729185;1761297;1849481;2140368;2147475;2148482;2164418;2167287;2176176;5014039;5014051;5015619;5015861;5019633;5022578;5022651;5037552;5092760;7185938 A005C33;A005R08;A006A19;D10S16;D11S2921;D11S3114;D1S1423;D22S1584;D22S627;D8S2278;D8S2279;G32276;G32312;G63345;G63573;GDB:313731;RH77783;RH77815;RH80619;RH93600;SGC30622;SGC32325;SHGC-145298;SHGC-78815;SHGC-78836;STS-Z41052;stD22S181 KIAA0819;MGC189703;MICAL-3 OTTHUMP00000196146;OTTHUMP00000196147;OTTHUMP00000196148;flavoprotein oxidoreductase MICAL3;microtubule associated monoxygenase, calponin and LIM domain containing 3;molecule interacting with CasL protein 3;protein-methionine sulfoxide oxidase MICAL3 APPROVED protein-coding ENSG00000243156 HGNC:24694 608882 VALIDATED 1605936 MICALL2 MICAL-like 2 ENCODES a protein that exhibits filamin binding; actin filament binding (ortholog); INVOLVED IN actin cytoskeleton reorganization (ortholog); actin filament polymerization (ortholog); endocytic recycling (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN actin filament bundle (ortholog); cell-cell junction (ortholog); neuron projection (ortholog); INTERACTS WITH 17beta-estradiol; aflatoxin B1; amiodarone 7 7 7 p22.3 1440266 1466482 - 1473995 1499138 - 1434359 1459502 - 6480464;8554872 12110185;12477932;12975309;14702039;15489334;16344560;16525024;17891173;20360068;21150319 79778 Q6UWK3;Q8IY33 ABBA01039341;ABBA01039342;ABBA01039343;AC102953;AK027124;AK074068;AK091986;AK093249;AK123990;AK126808;AK127339;AL833704;AMYH02015053;AMYH02015054;AY358755;BC037988;BC039886;BK000467;CH236953;CH471144;DA945802;NM_182924;XM_006715774 AAH37988;AAQ89115;ACE86775;ACE87461;BAB15667;BAB84894;BAC86702;CAD98087;DAA01346;EAW87200;EAW87201;NP_891554;Q8IY33;XP_006715837 Hs.376617;Hs.663699 1846846 RH46485 FLJ23471;FLJ41996;FLJ44858;FLJ45410;JRAB;MGC46023;MICAL-L2 MICAL-like protein 2;OTTHUMP00000147553;junctional Rab13-binding protein;molecule interacting with CasL-like 2 protein-coding ENSG00000164877 HGNC:29672 11364 VALIDATED 1352177 MICG MHC class I polypeptide-related sequence G (pseudogene) 6 6 6 p21.3 31383296 31383598 - 29780167 29780469 - 29812390 29812692 - 10557312 352967 ABBA01038036;AL645939;AL671561;AL844851;AMYH02013420;BA000025;BX005428;BX927141;CR759769;CR788234;CR925767;NG_002733 APPROVED pseudo HGNC:16802 INFERRED 1344142 MICU3 mitochondrial calcium uptake family, member 3 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 8 8 8 p22 15850940 15946342 + 16884747 16980148 + 17027238 17122639 + 737633;1580863;6480464;8554872 12477932 15489334;22064162;23409044 286097 H0YAN7;H0YB82;Q86XE3 ABBA01021587;AC079193;AC136305;AL833419;AMYH02017523;AMYH02017524;AMYH02017525;AMYH02017526;BC032868;BC045553;BI546243;BX953026;CH471080;DB548272;NM_181723;XM_005273477;XM_005273478;XM_006716328;XM_006716329;XM_006716330;XM_006716331;XM_006716332;XM_006716333;XM_006716334;XR_428307;XR_428308;XR_428309 AAH32868;AAH45553;ACE86890;ACE87577;EAW63826;EAW63827;NP_859074;Q86XE3;XP_005273534;XP_005273535;XP_006716391;XP_006716392;XP_006716393;XP_006716394;XP_006716395;XP_006716396;XP_006716397 Hs.403594 1786804;1786806 SHGC-170020;SHGC-170021 DKFZp313A0139;EFHA2 EF hand domain family A2;EF hand domain family, member A2;EF-hand domain family, member A2;EF-hand domain-containing family member A2;OTTHUMP00000122437;OTTHUMP00000225181;calcium uptake protein 3, mitochondrial;mitochondrial uptake family, member 3 APPROVED protein-coding ENSG00000155970 HGNC:27820 13264 610633 VALIDATED 1349529 MICF MHC class I polypeptide-related sequence F (pseudogene) 6 6 6 p21.3 31423766 31425637 - 29819964 29821829 - 29852187 29854052 - 10557312 352957 AB023057;ABBA01038036;AF055066;AL645929;AL671561;AMYH02013421;BX001005;BX247949;BX927141;CR388220;CT009517;NG_015984 APPROVED pseudo HGNC:16801 INFERRED 1344749 MID1IP1 MID1 interacting protein 1 INVOLVED IN negative regulation of microtubule depolymerization (ortholog); positive regulation of fatty acid biosynthetic process (ortholog); positive regulation of ligase activity (ortholog); FOUND IN cytosol (ortholog); microtubule cytoskeleton (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4',5-pentachlorobiphenyl; atrazine X X X p11.4 42798311 42803411 + 38660685 38665785 + 38801432 38806532 + 1580863;6480464 12477932;14702039;15070402;15146197;15489334;16189514;16344560;17207965;18187620;18854154;20457939;21139048;21163940;21900206;21906983;21963094;22505724;25015289 58526 Q9NPA3 ABBA01046994;AF050158;AF241728;AJ272057;AK001248;AMYH02039174;AW086438;AX876332;BC008908;BC019332;BK001260;CH471141;CN417714;CR457220;DA138791;DA449860;DA995619;NM_001098790;NM_001098791;NM_021242 AAH08908;AAH19332;ADQ31584;BAA91580;CAB89113;CAE89226;CAG33501;DAA01482;EAW59435;EAW59436;NP_001092260;NP_001092261;NP_067065;Q9NPA3 Hs.522605;Hs.662789 1701772 DXS1116E FLJ10386;G12-like;MIG12;S14R;STRAIT11499;THRSPL MID1 interacting G12-like protein;MID1 interacting protein 1 (gastrulation specific G12-like);OTTHUMP00000025759;OTTHUMP00000025760;gastrulation specific G12 homolog;gastrulation-specific G12-like protein;mid1-interacting G12-like protein;mid1-interacting protein 1;spot 14-R;spot 14-related protein APPROVED protein-coding ENSG00000165175 HGNC:20715 06732 VALIDATED 6481164 MID1IP1-AS1 MID1IP1 antisense RNA 1 p11.4 100874211 AF241728;DY655415;HG512489;NR_046706 Hs.662789 APPROVED ncrna HGNC:40932 VALIDATED 1354237 MICB MHC class I polypeptide-related sequence B This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 6 6 6 p21.3 33071633 33077144 + 31462054 31478901 + 31494881 31511124 + 1580863;6480464;8554872 10047540;10359807;10691930;10746790;10894171;11169252;11239445;11287116;11491531;11858820;11862397;11881819;12022360;12133964;12242594;12384702;12392511;12466900;12477932;12538683;12569559;12594848;12682252;12714493;12782710;12902493;14662896;15146197;15191526;15192843;15304008;15304009;15640005;15967992;16101830;16101831;16568261;16679067;16698441;16698444;16702430;16776673;16849432;16923796;17003176;17202358;17557375;17561376;17565371;17584663;17625602;17641203;17678727;18287244;18332098;18394338;18395517;18486757;18505429;18588574;18644891;18785505;18791713;18976975;19115949;19147769;19200602;19322201;19353249;19380116;19553547;19662431;19691640;19851445;19949079;20138739;20428196;20566410;20662065;21036725;21042760;21388352;21426309;21477352;21518478;21554252;21605422;21664939;21744989;21762746;21857986;21906983;21946350;21963094;22001756;22102813;22184268;22221182;22227571;22286212;22301547;22399527;22415659;22609444;22915757;22939629;23001997;23128233;23150178;23291067;23314034;23380144;23479551;23526433;23527639;23536857;23549730;23625227;23817571;23917076;24018560;24058482;24132900;24173243;24884822;24973455;7927538;8022771;8575823;8824804;8889548;8901601;8952966;8995188;9271635;9321430;9497295;9694358;9770516 4277 B4DUT9;B7Z8M1;F5H7Q8;Q29980;X6R344 AB003609;AB003610;AB003611;AB003612;AB003613;AB003614;AB003615;AB003616;AB003617;AB003618;AB088107;AB202111;ABBA01038078;AF021221;AF021222;AF021223;AF021224;AF021225;AF021226;AJ251156;AJ251158;AJ251160;AJ563706;AJ606906;AJ606907;AJ606908;AJ606909;AJ606910;AJ606911;AJ606912;AJ606913;AJ606914;AJ606915;AJ606916;AJ606917;AJ606918;AJ606919;AJ606920;AJ606921;AJ606922;AJ606923;AJ606927;AJ606928;AJ606929;AJ606930;AJ606931;AK291927;AK300791;AK303655;AK314228;AL662866;AL663061;AMYH02013452;AY885251;BA000025;BC044218;BQ216247;BU684700;BX001040;BX005439;BX927320;CH471081;CN389975;CR753820;CR753864;CR788288;DB121254;DC364717;DC427936;GU235997;NG_021405;NM_001289160;NM_001289161;NM_005931;U65416;U69978;U95729;U95730;U95731;U95732;U95733;U95734;X91625;XM_006726002;XM_006726095 AAB42011;AAB51802;AAB71642;AAB71643;AAB71644;AAB71645;AAB71646;AAB71647;AAC39846;AAC39847;AAC39848;AAC39849;AAC39850;AAC39851;AAH44218;ADA68470;BAA23476;BAA23477;BAA23478;BAA23479;BAA23480;BAA23481;BAA23482;BAA23483;BAA23484;BAA23485;BAB63307;BAC54939;BAE78634;BAF84616;BAG36899;BAG62451;BAH14007;CAA62823;CAB72097;CAB72098;CAB72101;CAD91554;CAE54932;CAE54933;CAE54934;CAE54935;CAE54936;CAE54937;CAE54938;CAE54939;CAE54940;CAE54941;CAE54942;CAE54943;CAE54944;CAE54945;CAE54946;CAE54947;CAE54948;CAE54949;CAE54953;CAE54954;CAE54955;CAE54956;CAE54957;EAX03402;EAX03403;NP_001276089;NP_001276090;NP_005922;Q29980;XP_006726065;XP_006726158 Hs.731446 1790807;2106173;2108825;2124998;2149283;2189571;5022578;5095141;7184109 AluyMICB_503(no_Alu);C1_2_A;D1S1423;D6S2672;D6S2793;MICB_1889.2;STS-U65416;STS-X91625 MIC-B;PERB11.2 MHC class I chain-related protein B;MHC class I mic-B antigen;MHC class I-like molecule PERB11.2-IMX;OTTHUMP00000029089;OTTHUMP00000165190;stress inducible class I homolog APPROVED protein-coding ENSG00000204516 HGNC:7091 03894 602436 REVIEWED 1602493 MID2 midline 2 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to microtubular structures in the cytoplasm. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009] X X X q22.3 107540045 107645826 + 107068889 107174867 + 107825663 107931637 + 6480464;8699517;8554872 10400985;10400986;10644436;11331580;11685209;11806752;12477932;14702039;15249690;15489334;15772651;16189514;16283679;16434393;16713569;18029348;18248090;19056867;19690564;21143188;23106098;24115387;24722188 11043 A6PVI4;Q9UJV3 ABBA01035940;ABBA01035941;ABBA01035942;ABBA01035943;ABBA01035944;ABBA01035945;ABBA01035946;ABBA01035947;ABBA01035948;ABBA01035949;ABBA01035950;ABBA01035951;ABBA01035952;ABBA01035953;ABBA01035954;ABBA01035955;AF196481;AK095034;AK123807;AL034399;AL109946;AMYH02040219;AY625004;BC017707;BC035557;BC058011;BC070370;BT006663;CH471120;DN997921;KF454946;KF459300;KF459301;NG_011907;NM_012216;NM_052817;XM_005262062;Y18880 AAF07341;AAH17707;AAP35309;AAT48105;ADZ15509;CAB56154;EAX02701;EAX02702;EAX02703;NP_036348;NP_438112;Q9UJV3;XP_005262119 Hs.12256 1702352;1702440;1791015;1849065;1849739;1854593;2118052;2176006;2181419;5095074 BKT11;DXS6739;DXS7844;DXS7891;L42705;MID2;RH18475;RH36054;SGC32037;WI-14337 FLJ37715;FLJ41813;FXY2;MRX101;RNF60;TRIM1 OTTHUMP00000023816;OTTHUMP00000023817;RING finger protein 60;midin 2;midin-2;midline defect 2;midline-2;probable E3 ubiquitin-protein ligase MID2;tripartite motif protein 1;tripartite motif-containing protein 1 APPROVED protein-coding HGNC:7096 02191 300204;300928 REVIEWED 1353196 MICU2 mitochondrial calcium uptake 2 ENCODES a protein that exhibits protein heterodimerization activity; INVOLVED IN mitochondrial calcium ion transport; negative regulation of mitochondrial calcium ion concentration; FOUND IN mitochondrial intermembrane space; uniplex complex; calcium channel complex (ortholog); INTERACTS WITH methylseleninic acid; valproic acid; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 13 13 13 q12.11 3128918 3240426 - 22066828 22178355 - 21492689 21604216 - 1580863;6480464 11124993;12477932;12826745;14702039;15057823;15489334;20379614;20877624;21139048;21145461;21890473;21906983;23000965;23409044;24560927;9205841 221154 Q8IYU8 ABBA01068607;ABBA01068608;AK057745;AK091907;AL136219;AL138680;AMYH02027661;AMYH02027662;BC031089;BC034965;BQ438851;CH471075;NM_152726;XR_429214 AAH31089;AAH34965;ADZ15331;ADZ15367;BAC03769;EAX08312;EAX08313;NP_689939;Q8IYU8 Hs.412103 1689075;1691160;1716573;1724407;1736334;1777316;2111584;2173234;7187390 D13S1534;D13S837E;D8S1675;RH121631;RH122365;RH68982;RH94193;SHGC-31003;SHGC-37580 1110008L20Rik;EFHA1;FLJ25016;FLJ34588 EF hand domain family A1;EF hand domain family, member A1;EF-hand domain family, member A1;EF-hand domain-containing family member A1;OTTHUMP00000070404;Smhs2 homolog;calcium uptake protein 2, mitochondrial APPROVED protein-coding ENSG00000165487 HGNC:31830 16852 610632 VALIDATED 1604008 MIEF1 mitochondrial elongation factor 1 ENCODES a protein that exhibits ADP binding; GDP binding; identical protein binding; INVOLVED IN mitochondrial fission; positive regulation of mitochondrial fission; positive regulation of protein targeting to membrane; FOUND IN mitochondrial outer membrane; mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 4-phenylbutyric acid 22 22 22 q13 23700340 23716193 + 39898197 39914139 + 39502192 39518134 + 6480464 10591208;11076863;11230166;11256614;12477932;15324660;15489336;16189514;16381901;20877624;21139048;21508961;21701560;23283981;23880462;23921378;24250222;8619474;9110174 54471 B0QY94;B0QY95;Q9NQG6 ABBA01055573;ABBA01055574;AF086364;AK000239;AK026539;AK290954;AL022312;AL136768;AL365515;AL834205;AMYH02038383;BC002587;BC002861;BC008327;BC009958;BC032530;BC047292;BC054037;BG419918;CH471095;NM_019008;XM_005261652 AAH02587;AAH08327;BAA91027;BAF83643;CAB66702;CAB97211;CAD38892;CAL38265;CAL38549;CAL38622;EAW60335;EAW60336;EAW60337;EAW60338;EAW60339;NP_061881;Q9NQG6;XP_005261709 Hs.728085 1647880;1651269;1677528;2158886;2174781;2174783 A006A38;G20660;RH138;RH64903;SGC30687;SHGC-57575 FLJ20232;HSU79252;MID51;SMCR7L;dJ1104E15.3 OTTHUMP00000199136;OTTHUMP00000199138;OTTHUMP00000199140;SMCR7-like protein;Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like;Smith-Magenis syndrome chromosome region, candidate 7-like;mitochondrial dynamic protein MID51;mitochondrial dynamic protein of 51 kDa;mitochondrial dynamics protein MID51;mitochondrial dynamics protein of 51 kDa;mitochondrial dynamics proteins of 51 kDa APPROVED protein-coding ENSG00000100335 HGNC:25979 13371 615497 VALIDATED 1353540 MICU1 mitochondrial calcium uptake 1 This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013] 10 10 10 q22.1 67411407 67671032 - 74127084 74385949 - 72367326 72626191 - 1302558;6480464 9806765 11230166;12477932;14702039;16344560;16385451;19615732;19919870;20693986;20877624;21139048;21685886;21685888;21832049;21890473;22904319;23101630;23615904;23667653;23747253;24332854;24336167;24560927;24816145;8125298 10367 E9PQV6;F6XEV2;Q9BPX6;S4R3D7;S4R3V1;S4R3W3 ABBA01020351;ABBA01020352;ABBA01020353;ABBA01020354;AC091769;AK022697;AK023318;AK225298;AK225695;AK296086;AK298347;AL117423;AL356009;AL513185;AMYH02023314;AMYH02023315;AMYH02023316;AMYH02023317;AMYH02023318;AMYH02023319;AMYH02023320;AMYH02023321;AMYH02023322;BC004190;BC004216;BC016641;BU627477;CH471083;DB030067;NG_033179;NM_001195518;NM_001195519;NM_006077;XM_005269383;XM_005269384;XM_005269386;XM_005269387;Y17711 AAH04190;AAH04216;AAH16641;ABM82013;ABW03344;BAB14187;BAG51182;BAG58841;BAG60593;CAA76830;CAB55915;EAW54457;EAW54458;EAW54459;NP_001182447;NP_001182448;NP_006068;Q9BPX6;XP_005269440;XP_005269441;XP_005269443;XP_005269444 Hs.524367 1665123;1686318;1690270;1693724;1726529;1727813;1781916;2118657;2137845;2145583;2172897 127XE9;G62645;G63172;RH11031;RH44916;RH80361;RH92364;SHGC-111140;SHGC-58644;STS-T80629;WI-16794 CALC;CBARA1;DKFZp564C246;EFHA3;FLJ12684;MPXPS OTTHUMP00000019787;OTTHUMP00000019788;ara CALC;atopy related autoantigen;atopy-related autoantigen CALC;calcium binding atopy-related autoantigen 1;calcium uptake protein 1, mitochondrial;calcium-binding atopy-related autoantigen 1 APPROVED protein-coding ENSG00000107745 HGNC:1530 05471 605084;615673 REVIEWED 1345713 MICA MHC class I polypeptide-related sequence A This gene encodes the highly polymorphic major histocompatability complex class I chain-related protein A. The protein product is expressed on the cell surface, although unlike canonical class I molecules it does not seem to associate with beta-2-microglobulin. It is a ligand for the NKG2-D type II integral membrane protein receptor. The protein functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Variations in this gene have been associated with susceptibility to psoriasis 1 and psoriatic arthritis, and the shedding of MICA-related antibodies and ligands is involved in the progression from monoclonal gammopathy of undetermined significance to multiple myeloma. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2014] 6 6 6 p21.33 32969923 33031516 + 31367561 31383090 + 31399784 31415315 + 1580863;6480464 10323458;10331160;10359807;10363723;10367903;10369917;10369920;10380703;10380704;10426993;10426994;10691930;10703615;10746789;10752636;10777103;10894171;11024213;11053635;11110982;11118029;11169245;11169252;11169253;11181995;11194237;11224526;11239445;11323699;11380951;11390037;11390038;11407684;11409121;11429322;11465541;11485740;11491503;11491531;11508592;11556982;11600224;11696218;11696220;11737059;11796403;11797336;11830641;11839711;11841487;11862390;11862400;11862403;11881819;11916168;11918717;11975986;12021133;12021138;12021140;12021141;12022360;12068141;12074712;12074713;12115588;12170466;12170475;12190814;12242594;12370336;12373294;12384702;12392510;12392511;12414645;12466900;12477932;12492815;12507824;12538683;12542746;12559632;12569559;12590984;12622774;12653732;12691706;12714493;12854159;12878361;12894536;12902493;12915440;12918694;12918695;12941547;12963865;14517700;14530335;14551603;14574404;14588097;14630402;14662896;14675133;14679081;14702039;14730600;14752253;15018633;15029237;15051759;15077289;15086345;15089899;15089901;15104678;15140030;15150599;15192843;15272769;15304009;15304010;15381244;15489334;15522921;15603871;15640005;15652646;15699508;15699510;15699512;15728525;15896200;15952123;15995699;16002667;16061555;16091471;16094621;16101830;16101831;16116311;16133985;16151576;16168521;16178876;16184547;16216678;16379028;16386647;16417220;16537577;16547745;16568261;16585609;16634869;16671949;16679067;16698430;16698437;16702430;16720212;16750166;16767211;16776673;16784494;16883538;16893385;16923796;16948893;16951502;17003171;17003176;17102945;17130560;17170457;17202358;17221346;17350686;17388919;17389016;17389022;17495932;17511763;17523949;17545046;17559497;17565371;17570210;17584663;17586836;17625602;17911424;17948965;18001301;18023027;18056367;18057383;18070447;18158593;18202175;18282752;18287244;18312344;18332098;18348660;18354183;18361932;18365383;18365394;18390988;18394338;18578977;18588574;18676862;18685862;18718856;18728002;18782524;18784732;18791713;18799098;18951065;18957310;18981088;18987644;19000131;19000729;19016911;19046302;19066881;19120272;19143814;19184033;19193353;19200602;19272329;19280715;19317747;19328950;19332255;19353249;19363685;19364518;19392799;19405864;19409079;19449444;19508374;19539762;19553547;19594363;19667965;19691640;19781272;19783834;19785955;19786616;19793804;19820007;19826051;19851445;19895570;19913121;19949079;20045334;20097244;20152875;20153697;20237496;20352225;20354827;20369461;20428196;20460636;20478410;20492597;20533278;20569278;20587610;20628086;20631027;20670353;20881960;20933106;21042760;21044950;21051598;21061445;21091928;21155878;21168690;21179506;21221852;21257710;21262824;21388352;21426309;21477352;21499248;21506888;21518478;21554252;21600151;21605422;21644931;21653640;21702010;21712812;21743469;21744989;21762746;21810082;21852331;21857986;21935360;22006996;22032421;22100839;22133594;22150370;22168250;22170063;22182633;22215138;22222578;22227571;22301547;22323559;22370708;22415659;22524849;22589738;22678802;22835336;22841239;22992985;23001997;23024757;23181907;23200759;23291067;23417110;23449627;23482656;23526433;23539759;23593449;23611695;23624543;23707440;23721028;23727634;23772752;23792058;23806266;23817569;23817571;23822824;23902341;23917076;23935919;23994040;23994587;24004718;24010643;24058482;24061441;24173243;24372774;24374048;24403192;24565339;24872415;24973455;2715640;7927538;8022769;8022771;8125298;8613147;8781120;8824804;8876061;8901601;8976183;8995188;9177776;9331954;9396860;9486173;9497295;9770516 100507436 H0Y615;Q29983;Q5SS58;Q96QC4 AB015600;AB088108;AB103614;AB202108;AB506764;AB537165;ABBA01038074;AF097403;AF097404;AF097405;AF097406;AF106652;AF302792;AF303446;AF305055;AF305056;AJ249394;AJ250499;AJ250500;AJ250501;AJ250502;AJ250503;AJ250504;AJ250505;AJ250506;AJ250507;AJ250802;AJ250803;AJ250804;AJ250805;AJ250990;AJ250991;AJ271789;AJ295250;AJ563426;AJ580805;AJ580806;AK094237;AK225393;AK299135;AK310028;AL645933;AL662866;AL669854;AL845443;AMYH02013449;AY095537;AY204547;AY603357;AY750850;BA000025;BC016929;BM552351;BM991681;BX119958;BX342160;CH471081;CN483948;CR318637;CR847852;DT219772;L14848;L29411;M24036;NG_034139;NM_000247;NM_001177519;NM_001289152;NM_001289153;NM_001289154;U56940;U56941;U56942;U56943;U56944;U56945;U56946;U56947;U56948;U56949;U56950;U56951;U56952;U56953;U56954;U56955;U69622;U69623;U69624;U69625;U69626;U69627;U69628;U69629;U69630;U69631;U69964;U69965;U69966;U69967;U69968;U69969;U69970;U69971;U69972;U69973;U69974;U69975;U69976;U69977;X92841;Y16801;Y16802;Y16803;Y16804;Y16805;Y16806;Y16807;Y16808;Y16809;Y16810;Y16811;Y18110;Y18111;Y18112;Y18113;Y18114;Y18115;Y18116;Y18117;Y18118 AAA21718;AAA52662;AAA64611;AAB41060;AAB41061;AAB41062;AAB41063;AAB41064;AAB41065;AAB41066;AAB41067;AAB41068;AAB41069;AAB41070;AAB41071;AAB41072;AAB41073;AAB41074;AAB41075;AAB51778;AAB51779;AAB51780;AAB51781;AAB51782;AAB51783;AAB51784;AAB51785;AAB51786;AAB51787;AAB51788;AAB51789;AAB51790;AAB51791;AAB51792;AAB51793;AAB51794;AAB51795;AAB51796;AAB51797;AAB51798;AAB51799;AAB51800;AAB51801;AAD19604;AAD27006;AAD27007;AAD27008;AAD27009;AAG22082;AAG22083;AAG22086;AAG22087;AAH16929;AAM34484;AAO45822;AAU95072;AAV39504;BAA29034;BAB63308;BAC54940;BAE78633;BAF31275;BAG61187;BAH83534;BAI52964;CAA63427;CAA76393;CAA76394;CAA76395;CAA76396;CAA76397;CAA76398;CAA76399;CAA76400;CAA76401;CAA76402;CAA76403;CAA77029;CAA77030;CAA77031;CAA77032;CAA77033;CAA77034;CAA77035;CAA77036;CAA77037;CAB71317;CAC14280;CAC14281;CAC14282;CAC14283;CAC14284;CAC14285;CAC14286;CAC14287;CAC14288;CAC15380;CAC15381;CAC15382;CAC15383;CAC16142;CAC16143;CAC27561;CAC88121;CAD91415;CAE45581;CAE45582;EAX03392;EAX03393;EAX03394;EAX03395;EAX03396;EAX03397;NP_000238;NP_001170990;NP_001276081;NP_001276082;NP_001276083;Q29983 Hs.130838 1648218;1776650;1786092;1786112;2106157;2106159;2106169;2117473;2153524;2182515;2189573;2189575;2189691;5021935;5022847;5037552;5118101 C1_2_BB;C1_2_C;C1_2_D;D6S1935;D6S2808;D8S2279;G64283;GJK050719600;MICA;RH17599;RH46617;RH46788;RH70942;SHGC-170012;SHGC-172535;STRMICA;STR_MICA FLJ36918;FLJ60820;MGC111087;MGC21250;MIC-A;PERB11.1 HLA class I antigen;MHC class I chain-related gene A protein;MHC class I chain-related protein A;OTTHUMP00000029088;OTTHUMP00000044528;OTTHUMP00000165170;OTTHUMP00000165172;Stress inducible class I homolog APPROVED protein-coding ENSG00000204520 HGNC:7090 600169 REVIEWED 1605649 MIER1 mesoderm induction early response 1, transcriptional regulator This gene encodes a protein that was first identified in Xenopus laevis by its role in a mesoderm induction early response (MIER). The encoded protein functions as a transcriptional regulator. Alternatively spliced transcript variants encode multiple isoforms, some of which lack a C-terminal nuclear localization signal. [provided by RefSeq, May 2013] 1 1 1 p31.3 65680527 65744235 + 67390578 67454302 + 66924895 66988619 + 6480464;8554872 10997877;12242014;12477932;12482978;12761501;14702039;15117948;15302935;15489334;16565220;16710414;17081983;18029348;18665173;18721470;19322201;21139048;21258344;21832049;21890473;21906983;22384264;22939629;23277184;23667531;23752268;9813250 57708 Q6NXT7;Q8N108 AB046830;ABBA01074523;ABBA01074524;ABBA01074525;AF515446;AF515447;AF515448;AK302061;AK307717;AL139216;AL500525;AL831987;AMYH02001197;AY124186;AY124187;AY124188;AY124189;AY124190;AY124191;AY124192;AY124193;AY124194;BC017423;BC066898;BC108726;BC125217;BC125218;BM987758;CH471059;CR627441;NG_029847;NM_001077700;NM_001077701;NM_001077702;NM_001077703;NM_001077704;NM_001146110;NM_001146111;NM_001146112;NM_001146113;NM_001278215;NM_020948;XM_005271075;XM_005271076;XM_005271077;XM_006710794 AAH17423;AAH66898;AAI08727;AAI25218;AAI25219;AAM76040;AAM76041;AAM76042;AAM97499;AAM97500;AAM97501;AAM97502;AAM97503;AAM97504;AAM97505;AAM97506;AAM97507;BAB13436;BAG63451;CAD89921;CAH10526;EAX06505;EAX06506;EAX06507;EAX06508;EAX06509;EAX06510;EAX06511;EAX06512;NP_001071168;NP_001071169;NP_001071170;NP_001071171;NP_001071172;NP_001139582;NP_001139583;NP_001139584;NP_001139585;NP_001265144;NP_065999;Q8N108;XP_005271132;XP_005271133;XP_005271134;XP_006710857 Hs.605432 1687131;1776495;1787650;2118088;2128518;2164227;2168188;5017587 D1S1897E;MIER1;RH70050;SHGC-156091;SHGC-53361;SHGC-74961;SHGC-74968;SHGC-74969 DKFZp781G0451;ER1;KIAA1610;MGC131940;MGC150640;MGC150641;MI-ER1;RP5-944N15.1;hMI-ER1 OTTHUMP00000010782;OTTHUMP00000010783;OTTHUMP00000010960;OTTHUMP00000010961;OTTHUMP00000010962;OTTHUMP00000010963;early response 1;mesoderm induction early response 1 (MI-ER1);mesoderm induction early response 1 homolog;mesoderm induction early response protein 1 APPROVED protein-coding ENSG00000198160 HGNC:29657 11362 REVIEWED 1320070 MIDN midnolin FOUND IN cytosol (inferred); nucleolus (inferred); INTERACTS WITH 2-methylcholine; aflatoxin B1; copper(2+) sulfate 19 19 19 p13.3 1182784 1193375 + 1248552 1259142 + 1248553 1259143 + 6480464 10974535;11441184;12477932;16303743;19322201;21900206;21906983;21963094;22505724;24187134;24250222 90007 K7EN89;K7END3;Q504T8 AA421908;ABBA01002634;ABBA01002635;ABBA01002636;AC004221;AK075506;AL512725;AMYH02035145;BC015089;BC060848;BC094778;BM966744;CH471139;HI574022;NM_177401;XM_005259671;XM_005259672 AAH15089;AAH94778;CBX47500;EAW69527;EAW69528;EAW69529;NP_796375;Q504T8;XP_005259728;XP_005259729 Hs.465529 1681596;2219926 MIDN__6314;RH80863 DKFZp547M072 midbrain nucleolar protein protein-coding ENSG00000167470 HGNC:16298 16230 606700 VALIDATED 1316379 MIER2 mesoderm induction early response 1, family member 2 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cobalt dichloride; paracetamol (ortholog) 19 19 19 p13.3 467724 506032 + 305575 344791 - 305575 344791 - 737633;6480464 12477932 10574462;21258344;23144319;23752268;24722188 54531 Q8N344 AB033019;ABBA01002553;ABBA01002554;AC016588;AMYH02035103;AMYH02035104;AMYH02035105;BC028203;NM_017550;XM_005259582;XM_006722769;XM_006722770 AAH28203;BAA86507;NP_060020;Q8N344;XP_005259639;XP_006722832;XP_006722833 Hs.101891 1757689;5022578 D1S1423;SHGC-146248 KIAA1193;Mi-er2 mesoderm induction early response protein 2 protein-coding ENSG00000105556 HGNC:29210 11130 PROVISIONAL 9479125 MIF-AS1 MIF antisense RNA 1 22 22 22 q11.23 8073630 8078877 - 24233589 24241292 - 23893710 23898930 - 16751776;19913121;20628086;24066864 284889 ABBA01055124;AMYH02038138;AP000350;BC036909;DQ577081;DQ588947;DQ590506;DQ595552;DQ595553;LN608903;NR_038911 Hs.632772 ncrna HGNC:27669 VALIDATED 1606529 MIF4GD MIF4G domain containing This gene encodes a protein which interacts with the N-terminus of the stem-loop binding protein (SLBP) and the 3' end of histone mRNA. This interaction facilitates the activation of histone mRNA translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] 17 17 17 q25.1 69854657 69859655 - 73262309 73267373 - 75266228 75271292 - 6480464 12477932;15231747;16189514;16713569;17577209;18025107;20309963;21988832;22532700;22939629;23286197 57409 A9UHW6;J3KSB8;J3KSU6;J3QKW3;J3QLD1;J3QLJ5;J3QLN4;J3QRZ6 ABBA01028806;AC022211;AF225422;AK300711;AMYH02033988;AMYH02033989;BC033759;BI752882;BU190758;BX404175;CA488406;CH471099;NM_001242498;NM_001242500;NM_001242501;NM_020679;XM_005257530;XM_005257531;XM_005257532;XM_005257533;XM_006721985;XM_006721986 A9UHW6;AAG09724;AAH33759;ABM81741;ABM84897;BAG62389;EAW89263;EAW89264;EAW89265;EAW89266;NP_001229427;NP_001229429;NP_001229430;NP_065730;XP_005257587;XP_005257588;XP_005257589;XP_005257590;XP_006722048;XP_006722049 Hs.325631 1739883;2154188;5024543 D17S1769;D1S3690;RH47314 AD023;MGC45027;MIFD;SLIP1;hSLIP1 MIF4G domain-containing protein;SLBP (stem loop binding protein)-interacting protein 1;SLBP-interacting protein 1 APPROVED protein-coding ENSG00000125457 HGNC:24030 10629 612072 REVIEWED 1347197 MIEF2 mitochondrial elongation factor 2 This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] 17 17 17 p11.2 19104964 19110211 + 18163848 18169095 + 18260534 18265781 + 6480464 11997338;12477932;14702039;15517828;16189514;16344560;16713569;19060904;21508961;21890473;21906983;23000965;23283981;23530241;23880462;23921378 125170 A8MT25;J3KTJ4;J3QR30;K7EKV6;Q96C03 ABBA01009736;AC127537;AF467443;AK056165;AK128310;AMYH02033113;BC014973;BC035292;CH471196;DB183618;NM_001144900;NM_139162;NM_148886 AAH14973;AAL78340;ADZ15378;BAB71108;BAC87377;EAW55651;EAW55652;NP_001138372;NP_631901;NP_683684;Q96C03 Hs.655555 2107625;5022649 D11S2875;SMCR7__6859 MGC23130;MID49;SMCR7 OTTHUMP00000065695;OTTHUMP00000065696;OTTHUMP00000065697;Smith-Magenis syndrome chromosomal region candidate gene 7 protein;Smith-Magenis syndrome chromosome region, candidate 7;mitochondrial dynamic protein MID49;mitochondrial dynamic protein of 49 kDa;mitochondrial dynamics protein MID49;mitochondrial dynamics protein of 49 kDa;mitochondrial dynamics proteins of 49 kDa APPROVED protein-coding ENSG00000177427 HGNC:17920 18074 615498 REVIEWED 1605562 MIER3 mesoderm induction early response 1, family member 3 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 3,3',5-triiodo-L-thyronine; ethyl methanesulfonate; formaldehyde 5 5 5 q11.2 53169638 53202174 - 56215429 56247957 - 56919602 56952130 - 6480464 11076863;11230166;12477932;14702039;15489336;16344560;16381901;21258344;22993404;23752268;24654937 166968 A8MQD4;C9JXP7;H7C1J9;Q7Z3K6 ABBA01015768;AC008937;AC016644;AI470450;AK002183;AK093273;AK299285;AMYH02011333;BC013936;BC041348;BX537798;BX640907;BX647359;BX648294;CH471123;CR749246;CR749805;DB136129;NM_001297598;NM_001297599;NM_152622;XM_005248448 AAH41348;ABZ92415;ACE86675;ACE87360;BAC04117;BAG61301;CAD97846;CAE45951;CAH18102;CAH18665;CAI56710;CAL38471;EAW54959;EAW54960;NP_001284527;NP_001284528;NP_689835;Q7Z3K6;XP_005248505 Hs.657594 1799826;1800676;1800954;1800994;1801950;1802322;1803372;1803620;1805032;1808686;1809198;1810650;1811338;1815260;1816860;1817336;1817436;1818182;1819276;1821884;1823460;1823718;1823894;1825876;1827832;1830322;1831948;1832596;1834128;1834130;1834696;1840914;1842538;1843552;1845038;1845670;1846164;1846392;1915306;1915308;1915310;1915312;1915314;1915316;1915318;1915320;1915322;1915324;1915326;1915328;1915330;1915332;1915334;1915336;1915338;1915340;1915342;1915344;1915346;1915348;1915350;1915352;1915354;1915356;1915358;1915360;1915362;1915364;1915366;1915368;1915370;1915372;1915374;1915376;1915378;1915380;1915382;1915384;1915386;1915388;1915390;1915392;1915394;1915396;1915398;1915400;1915402;1915404;1915406;1915408;1915410;1915412;1915414;1915416;1915418;1915420;1915422;1915424;1915426;1915428;1915430;1915432;1915434;1915436;1915438;1915440;1915442;1915444;1915446;1915448;1915450;1915452;1915454;1915456;1915458;1915460;1915462;1915464;1915466;1915468;1915470;1915472;1915474;1915476;1915478;1915480;1915482;1915484;1915486;1915488;1915490;1915492;1915494;1915496;1915498;1915500;1915502;1915504;1915506;1915508;1915510;1915512;1915514;1915516;1915518;1915520;1915522;1915524;1915526;1915528;1915530;1915532;1915534;1915536;1915538;1915540;1915542;1915544;1915546;1915548;1915550;1915552;1915554;1915556;1915558;1915560;1915562;1915564;1915566;1915568;1915570;1915572;1915574;1915576;1915578;1915580;1915582;1915584;1915586;1915588;1915590;1915592;1915594;1915596;1915598;1915600;1915602;1915604;1915606;1915608;1915610;1915612;1915614;2205958;2205960;2205962;2205964;2205966;2205968;2205970;2205972;2205974;2205976;2205978;2205980;2205982;2205984;2205986;2205988;2205990;2205992;2205994;2205996;2205998;2206000;2206002;2206004;2206006;2206008;5095024 ECD00767;ECD01199;ECD01342;ECD01363;ECD01856;ECD02045;ECD02583;ECD02716;ECD03457;ECD05325;ECD05589;ECD06319;ECD06667;ECD08666;ECD09476;ECD09718;ECD09768;ECD10148;ECD10705;ECD12028;ECD12821;ECD12951;ECD13041;ECD14046;ECD15039;ECD16295;ECD17112;ECD17438;ECD18212;ECD18213;ECD18496;ECD21650;ECD22476;ECD22985;ECD23736;ECD24053;ECD24302;ECD24416;MIER3;REN28463;REN28464;REN28465;REN28466;REN28467;REN28468;REN28469;REN28470;REN28471;REN28472;REN28473;REN28474;REN28475;REN28476;REN28477;REN28478;REN28479;REN28480;REN28481;REN28482;REN28483;REN28484;REN28485;REN28486;REN28487;REN28488;REN28489;REN28490;REN28491;REN28492;REN28493;REN28494;REN28495;REN28496;REN28497;REN28498;REN28499;REN28500;REN28501;REN28502;REN28503;REN28504;REN28505;REN28506;REN28507;REN28508;REN28509;REN28510;REN28511;REN28512;REN28513;REN28514;REN28515;REN28516;REN28517;REN28518;REN28519;REN28520;REN28521;REN28522;REN28523;REN28524;REN28525;REN28526;REN28527;REN28528;REN28529;REN28530;REN28531;REN28532;REN28533;REN28534;REN28535;REN28536;REN28537;REN28538;REN28539;REN28540;REN28541;REN28542;REN28543;REN28544;REN28545;REN28546;REN28547;REN28548;REN28549;REN28550;REN28551;REN28552;REN28553;REN28554;REN28555;REN28556;REN28557;REN28558;REN28559;REN28560;REN28561;REN28562;REN28563;REN28564;REN28565;REN28566;REN28567;REN28568;REN28569;REN28570;REN28571;REN28572;REN28573;REN28574;REN28575;REN28576;REN28577;REN28578;REN28579;REN28580;REN28581;REN28582;REN28583;REN28584;REN28585;REN28586;REN28587;REN28588;REN28589;REN28590;REN28591;REN28592;REN28593;REN28594;REN28595;REN28596;REN28597;REN28598;REN28599;REN28600;REN28601;REN28602;REN28603;REN28604;REN28605;REN28606;REN28607;REN28608;REN28609;REN28610;REN28611;REN28612;REN28613;REN28614;REN28615;REN28616;REN28617;stSG625181;stSG625182;stSG625183;stSG625184;stSG625185;stSG625186;stSG625187;stSG625188;stSG625189;stSG625190;stSG625191;stSG625192;stSG625193;stSG625194;stSG625195;stSG625196;stSG625197;stSG625198;stSG625199;stSG625200;stSG625201;stSG625202;stSG625203;stSG625204;stSG625205;stSG625207 DKFZp686L09111;DKFZp781G1119;DKFZp781I1119;FLJ35954;mi-er3 OTTHUMP00000065912;OTTHUMP00000065913;OTTHUMP00000065914;OTTHUMP00000203418;mesoderm induction early response protein 3 protein-coding ENSG00000155545 HGNC:26678 08199 VALIDATED 1602214 MIIP migration and invasion inhibitory protein This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011] 1 1 1 p36.22 11193177 11205771 + 12079299 12092106 + 12019242 12032049 + 6480464 12477932;14617774;14702039;15867349;17207965;19773279;20008322;20103646;20418911;22321011 60672 Q5JXC2 ABBA01003068;ABBA01003069;ABBA01003070;AK022500;AK024020;AK095928;AL096840;AMYH02000305;AW196459;BC008068;BG536799;BI828925;CH471130;FJ618905;KF495865;NG_030022;NM_021933;XM_005263487 AAH08068;ACM90320;ADQ32288;BAB14062;BAB14781;EAW71729;NP_068752;Q5JXC2;XP_005263544 Hs.8595 2180959 SHGC-74239 FLJ12438;FLJ38609;IIP45;RP5-1077B9.4 IGFBP-2-Binding Protein;IGFBP2-binding protein;OTTHUMP00000002537;invasion inhibitory protein 45;invasion-inhibitory protein 45;migration and invasion-inhibitory protein APPROVED protein-coding ENSG00000116691 HGNC:25715 07768 608772 REVIEWED 1605249 MILR1 mast cell immunoglobulin-like receptor 1 INVOLVED IN mast cell degranulation (ortholog); negative regulation of mast cell activation (ortholog); ASSOCIATED WITH Melanoma (inferred); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 (inferred); FOUND IN mast cell granule (ortholog); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; theophylline 17 17 17 q23.3 56915130 56934622 + 62461567 62464760 + 64447182 64492396 + 6480464;8554872 12477932;20526344;24116093;24552759 284021 Q7Z6M3;S4R3N6 AB542950;AB542951;AB542952;ABBA01035299;AC009994;AC138744;AC234063;AMYH02033791;AMYH02033792;BC018972;BC053534;BC130406;BC136594;BC144272;BE296352;CD687595;CS255953;HI968228;NM_001085423;NM_001291316;NM_001291317;XM_005276872;XM_005276873;XM_005276874;XM_005276875;XM_005276876;XM_005276877;XM_005276878 AAH53534;AAI30407;AAI36595;AAI44273;BAJ08251;BAJ08252;BAJ08253;CAJ75916;CBY88425;NP_001078892;NP_001278245;NP_001278246;Q7Z6M3;XP_005276929;XP_005276930;XP_005276931;XP_005276932;XP_005276933;XP_005276934;XP_005276935 Hs.631749 5022578;5037552 D1S1423;D8S2279 C17orf60;MCA-32;MCA32;MGC163278 ALLERGIN-1L;ALLERGIN-1S1;ALLERGIN-1S2;allergin-1;allergy inhibitory receptor 1;mast cell antigen 32;probable mast cell antigen 32 homolog APPROVED protein-coding ENSG00000271605 HGNC:27570 VALIDATED 1315438 MIEN1 migration and invasion enhancer 1 ENCODES a protein that exhibits selenium binding (inferred); INVOLVED IN negative regulation of apoptotic process; positive regulation of cell migration; positive regulation of filopodium assembly; FOUND IN cytosol; extracellular vesicular exosome; intrinsic component of the cytoplasmic side of the plasma membrane; INTERACTS WITH cyclosporin A; hydrogen peroxide; valproic acid 17 17 17 q12 34545142 34546521 - 37885409 37886792 - 39729156 39730539 - 737633;6480464 12477932 12739007;15010812;15489334;17117180;17121940;17207965;17503775;19124506;19503095;20628393;21068479;21347235;21483102;21628459;23284973;23880825 84299 J3KTI2;Q9BRT3 AA010615;ABBA01031858;AC079199;AF490253;AJ308025;AJ308026;AL554581;AMYH02033388;AY508814;BC006006;BC106016;BX646129;CH471152;CS566126;JA284279;NG_007503;NM_032339;XM_005257736 AAH06006;AAO85461;AAR92035;ADQ33214;CAN37613;CCA65398;EAW60598;EAW60599;NP_115715;Q9BRT3;XP_005257793 Hs.333526 1684602;1778641 D17S2147;RH79751 C17orf37;C35;MGC14832;ORB3;RDX12;XTP4 HBV X-transactivated gene 4 protein;HBV XAg-transactivated protein 4;OTTHUMP00000164348;hypothetical protein LOC84299 APPROVED protein-coding ENSG00000141741 HGNC:28230 12681 611802 VALIDATED 732275 MID1 midline 1 The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined. [provided by RefSeq, Jul 2010] X X X p22 14584610 14973762 - 10413350 10851829 - 10847761 11111152 - 1580863;6480464;6907045;7240710;8554872;8699517 10077590;10400985;11030761;11331580;11371618;11685209;11806752;12408967;12411602;12477932;12545276;12798296;12833403;15057556;15070402;15489334;15558842;16344560;16378742;16434393;16498413;16529770;17043407;17081983;17221865;17428496;17438131;17672918;18005432;18172692;18220417;18360914;18697196;18949047;19049519;19322201;19549727;19734545;19818709;20092282;20301502;20301753;21143188;21296087;21326312;21454489;21555591;21890473;21903422;21930711;22194938;22493164;22613722;22939629;23334847;23443539;23740247;23791568;7493033;9354791;9425238;9718340;9722948 4281 C9J453;C9JZJ7;O15344 ABBA01070832;ABBA01070833;ABBA01070834;ABBA01070835;ABBA01070836;ABBA01070837;ABBA01070838;ABBA01070839;ABBA01070840;ABBA01070841;ABBA01070842;ABBA01070843;ABBA01070844;ABBA01070845;ABBA01070846;ABBA01070847;ABBA01070848;ABBA01070849;ABBA01070850;ABBA01070851;ABBA01070852;ABBA01070853;ABBA01070854;ABBA01070855;ABBA01070856;ABBA01070857;ABBA01070858;ABBA01070859;ABBA01070860;ABBA01070861;ABBA01070862;ABBA01070863;ABBA01070864;ABBA01070865;ABBA01070866;ABBA01070867;ABBA01070868;ABBA01070869;ABBA01070870;ABBA01070871;ABBA01070872;ABBA01070873;ABBA01070874;ABBA01070875;ABBA01070876;ABBA01070877;ABBA01070878;ABBA01070879;ABBA01070880;ABBA01070881;ABBA01070882;ABBA01070883;AC002349;AC003657;AC008008;AC012088;AC073529;AC117406;AF035360;AF041206;AF041208;AF041210;AF230976;AF230977;AF269101;AI371111;AK025187;AK226104;AK291215;AK297205;AK299061;AK315095;AMYH02038848;AMYH02038849;AMYH02038850;AMYH02038851;AMYH02038852;AY112900;AY112901;AY112903;AY539962;AY539963;AY539964;AY539967;AY539969;AY539970;AY539971;AY539972;AY539973;AY539974;AY539976;AY539977;AY539978;AY539979;AY539980;AY539981;AY539982;AY539983;AY539984;AY539985;AY539986;AY539987;AY539988;AY539989;AY539990;AY539991;AY539993;AY539994;AY539995;AY539996;AY539997;AY539998;AY539999;AY540000;AY540001;AY540002;AY540003;AY540004;AY540005;AY540007;AY540008;AY540009;AY540010;AY540011;AY540012;AY540013;AY540014;AY540015;AY540016;AY540017;AY540018;AY540020;AY540021;AY540022;AY540023;AY660577;AY660578;AY660579;BC053626;CH471074;DA435613;DA856308;DC309977;DC369426;EF217423;EF217424;EF217425;EF217426;EF532594;EF532595;EF532596;HG512432;HG512433;HG512434;HG512435;KC877957;KC877965;KF510158;NG_008197;NM_000381;NM_001098624;NM_001193277;NM_001193278;NM_001193279;NM_001193280;NM_001193281;NM_033289;NM_033290;U69730;U96409;XM_005274536;XM_005274537;XM_005274538;XM_006724492;XM_006724493;XR_247298;XR_247299;XR_247300;XR_250630;XR_250631;XR_250632;XR_254127;XR_254128;XR_254129;Y13667 AAB99951;AAC32998;AAC33000;AAC33002;AAG33130;AAG50191;AAG50192;AAH53626;ABZ92039;BAF83904;BAG37559;BAG59690;BAH12942;CAA74018;EAW98779;EAW98780;EAW98781;NP_000372;NP_001092094;NP_001180206;NP_001180207;NP_001180208;NP_001180209;NP_001180210;NP_150631;NP_150632;O15344;XP_005274593;XP_005274594;XP_005274595;XP_006724555;XP_006724556 Hs.27695;Hs.460482;Hs.689953;Hs.738954 1654605;1655304;1662782;1663590;1671456;1679411;1693968;1693986;1693988;1693992;1694010;1694012;1694024;1694030;1694032;1694034;1694036;1694038;1694046;1694048;1694050;1694054;1694060;1702262;1702274;1702748;1704242;1710894;1714445;1778277;1792720;2109515;2133601;2141247;2147057;5016027 A004G38;AF003639;AF003649;AF003650;AF003652;AF003662;AF003663;AF003670;AF003673;AF003674;AF003675;AF003676;AF003677;AF003682;AF003683;AF003684;AF003686;AF003689;DXS1438;DXS7713;DXS7916;HSC1ZH102;MID1;MID1__6312;PMC15848P1;RH120215;RH18198;RH65583;RH65878;RH67856;RH99148;SHGC-36657;SHGC-83251;SHGC-84226;STS-AA026423;UniSTS:99542 BBBG1;FLJ57031;FLJ58683;FLJ76288;FXY;GBBB1;OGS1;OS;OSX;RNF59;TRIM18;XPRF;ZNFXY E3 ubiquitin-protein ligase Midline-1;MIDIN;OTTHUMP00000022896;OTTHUMP00000022898;OTTHUMP00000022899;OTTHUMP00000022900;OTTHUMP00000022901;OTTHUMP00000022902;Opitz/BBB syndrome;RING finger protein 59;RING finger protein Midline-1;midline 1 RING finger protein;midline-1;putative transcription factor XPRF;tripartite motif protein TRIM18;tripartite motif-containing protein 18;zinc finger on X and Y, mouse, homolog of APPROVED protein-coding ENSG00000101871;ENSG00000234129 HGNC:7095 02047 300000;300552 REVIEWED 7243405 MINOS1-NBL1 MINOS1-NBL1 readthrough This locus represents naturally occurring read-through transcription between the neighboring chromosome 1 open reading frame 151 (GeneID 440574) and neuroblastoma suppressor of tumorigenicity 1 (GeneID 4681) genes on chromosome 1. The read-through transcripts produce at least two proteins, each of which share identity with proteins translated from the downstream neuroblastoma suppressor of tumorigenicity 1 locus. [provided by RefSeq, Feb 2011] 1 1 p36.13 19923471 19984949 + 19596977 19658456 + 6480464 20967262 100532736 P41271;R4GMM1;R4GMY4;R4GNA1 ABBA01059762;ABBA01059763;ABBA01059764;ABBA01059765;ABBA01059766;AK289456;AL031727;AMYH02000421;AMYH02000422;FY212253;KF510717;NM_001204088;NM_001204089 BAF82145;NP_001191017;NP_001191018 Hs.466662;Hs.654502 1734500;1740599;2154034;2157218 D1S1733E;D1S1764E;RH68234;RH68284 C1orf151-NBL1 C1orf151-NBL1 read-through protein protein-coding ENSG00000270136 HGNC:48338 VALIDATED 1603802 MINOS1 mitochondrial inner membrane organizing system 1 FOUND IN mitochondrion; INTERACTS WITH benzo[a]pyrene; calcitriol; paracetamol 1 1 1 p36.13 18250376 18283223 + 19923471 19956315 + 19596977 19629821 + 6480464 12477932;14702039;15489334;16341674;16344560;16710414;16712791;20877624;21944719;22114354;23704930;8889548 440574 Q5TGZ0 ABBA01059762;ABBA01059763;ABBA01059764;ABBA01059765;AJ711911;AK094318;AK096240;AL031727;AMYH02000421;AMYH02000422;BC009927;BC070388;BG687187;BM784596;CB157536;CB852406;CH471134;DA523181;DA793500;DB323148;NM_001032363;NM_001204082;NM_001204083;NR_033757;NR_033758 AAH09927;AAH70388;EAW94893;NP_001027535;NP_001191011;NP_001191012;Q5TGZ0 Hs.466662 1669460;1669462;1773215;5022578;5037552;5117897 D1S1423;D8S2279;GDB:631813;SHGC-74309;SHGC-74313;WI-11927 C1orf151;FLJ36999;FLJ75158;MIO10;RP5-1056L3.2 OTTHUMP00000002794;UPF0327 protein C1orf151;hypothetical protein LOC440574;mitochondrial inner membrane organizing system protein 1 APPROVED protein-coding ENSG00000173436 HGNC:32068 VALIDATED 6483884 MINOS1P1 mitochondrial inner membrane organizing system 1 pseudogene 1 INTERACTS WITH valproic acid 13 13 13 q13.1 14137271 14137761 - 33070343 33072629 - 32496206 32498492 - 6480464 8812419;8889548 100462953 ABBA01010143;AL049782;AL353665;AMYH02027824;BM664083;NR_051980;U50530 Hs.687692;Hs.737108 CG012;N4BP2L2-IT;N4BP2L2-IT1;N4BP2L2IT1 APPROVED pseudo HGNC:25036 VALIDATED 6484650 MINOS1P4 mitochondrial inner membrane organizing system 1 pseudogene 4 4 4 4 q 76596327 76596795 + 79300344 79300812 + 78379190 78379658 + 9847074 100462957 ABBA01063381;AC093886;AMYH02009541;NG_022916 pseudo HGNC:44094 INFERRED 6484652 MINOS1P2 mitochondrial inner membrane organizing system 1 pseudogene 2 17 17 17 q24.1 57213935 57214440 - 62743153 62743658 - 64747035 64747540 - 100289489 ABBA01035283;AC132812;AMYH02033798;NG_022912 pseudo HGNC:44092 INFERRED 6484653 MINOS1P3 mitochondrial inner membrane organizing system 1 pseudogene 3 3 3 3 27192336 27192863 - 27256053 27256580 - 27214562 27215089 - 100462954 ABBA01025005;AC093555;AMYH02006440;NG_022915 pseudo HGNC:44093 INFERRED 734203 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. [provided by RefSeq, Jul 2008] 22 22 22 q11.23 8074325 8075169 + 24236565 24237409 + 23894378 23895222 + 1580863;1641954;1642000;1642002;1641950;1641957;1641991;1641993;1642006;1642009;1642011;1641953;1641949;1641978;1641983;1641989;1642001;1642003;1642007;1642012;1641951;1641955;1641979;1641984;1641985;1641997;727512;1642008;1642013;4891022;4890977;4891007;4891010;4891014;4891035;4891006;4891009;4891013;4891015;4890972;4891052;4891058;4890974;4891012;4891004;4891023;4891045;4890973;4891017;4891043;4891053;4891056;4890976;4891059;4891046;4891005;6480464;6907045;7240710;5131286 10617911;10765927;10780884;11126199;11589847;11798463;11870869;12552367;12576459;12612911;12704210;12853844;14625478;14706927;14962818;15053202;15067555;15276025;15286457;15472203;15790730;15879312;15922484;15922619;16179637;16186482;16247506;16455830;16571782;16574946;16601957;17277045;17295350;17324399;17373669;17381395;17435771;17565848;17585860;18055556;18074864;18097062;18618071;19066630;19131653;19346297;19799867;19941385;20367970;20439102;20626060;20811626;9158105;9637721;9700137 10334104;10353846;10562313;11089976;11170644;11259268;11508429;11875000;11920501;11978887;11985788;11997397;12009356;12032852;12070782;12109441;12126556;12180727;12186913;12218292;12218308;12235522;12355488;12402212;12445161;12477932;12480958;12507885;12607777;12615835;12626594;12631237;12665801;12667094;12681488;12738641;12740374;12746913;12782713;12796500;12822893;12847682;1286669;12965208;14502271;14551601;14581488;14607690;14736878;14760795;15018649;15065001;15146413;15146431;15170913;15216464;15231747;15292349;15304087;15308783;15461802;15489334;15545061;15545824;15576462;15585204;15585220;15592455;15612021;15630728;15659324;15757663;15800984;15815686;15820792;15838879;15910495;15910597;16000172;16051683;16085663;16115023;16133063;16169070;16189514;16200611;16205314;16220288;16224818;16243796;16285950;16314470;16314559;16317091;16369812;16385258;16388506;16488392;16527487;16538639;16677407;16709839;16724072;16767681;16780713;16807115;16820919;16839849;16854377;16861224;16872482;16893895;16929348;17005573;17029206;17045821;17075815;17108334;17142775;17166737;17172590;17181929;17206642;17215861;17224449;17353931;17438452;17438455;17495357;17526494;17541237;17559578;17591062;17592555;17620429;17658526;17706208;17709373;17712545;17728788;17763209;17786285;17854804;17854909;17869648;17906677;17912466;18034423;18037272;18054247;18060744;18078632;18081874;18097599;18165264;18171527;18171602;18177450;18228042;18235500;18239193;18242614;18261992;18270460;18356846;18362243;18426738;18466513;18469521;18474653;18490733;18493321;18502749;18676531;18677096;18680514;18684922;18710704;18720262;18795803;18815136;18832726;18842989;18852457;18853133;18930766;19009023;19038405;19056867;19062717;19081768;19109179;19155217;19157791;19167373;19170716;19188484;19190083;19196797;19260777;19299454;19317738;19376177;19394321;19406662;19417556;19423540;19428548;19454686;19464392;19475570;19591577;19601712;19602265;19644855;19665027;19720544;19723024;19724898;19726058;19737008;19738201;19747950;19759012;19762145;19773451;19776019;19776337;19799813;19829123;19913121;19938192;19941661;19950249;20038293;20085845;20127054;20149326;20178462;20193596;20200619;20203087;20233515;20237496;20303284;20346241;20369477;20380014;20382217;20383199;20406964;20438785;20447688;20448056;20452482;20460119;20467327;20471506;20499270;20534506;20546256;20573157;20598902;20621719;20628086;20646540;20673868;20805296;20807568;20829434;20847814;20861157;20863520;20872800;20878093;20944103;20980171;21030269;21045753;21071513;21087445;21106938;21139048;21162929;21169549;21208809;21209875;21269946;21281800;21283538;21283592;21319273;21360573;21401926;21417823;21512965;21515791;21553324;21575460;21607559;21607712;21623990;21641401;21684012;21725855;21750916;21773885;21792010;21817065;21823060;21848392;21852299;21875883;21890178;21890473;21906983;21942715;21963094;21988832;21990375;22001757;22007254;22053931;22079264;22099602;22127710;22166284;22174124;22206839;22271573;22302395;22327470;22415145;22430150;22449335;22451332;22461895;22505724;22543583;22609310;22611320;22623428;22649515;22676646;22693633;22742858;22759564;22782901;22810585;22813781;22820623;22883521;22892326;22893706;22898393;22909194;22927777;22939113;22939629;22949182;22952837;22988252;23000965;23023114;23028743;23043599;23050964;23060578;23064787;23068083;23125447;23179933;23207293;23246423;23272137;23315862;23354841;23383040;23402792;23403077;23410506;23411097;23451183;23497377;23523092;23526214;23537651;23552723;23556458;23566229;23707797;23728617;23770720;23776208;23794947;23846621;23882081;23895962;23913513;23978362;23985752;24003215;24039418;24066864;24091309;24098445;24138931;24151396;24158957;24167613;24194192;24273891;24337577;24356968;24366206;24379579;24384723;24396292;24424397;24441872;24490973;24569872;24583282;24654937;24683185;24816145;2552447;3917866;7558020;7679497;7683862;7947826;8188240;8234256;8289313;8601455;8610159;8643551;8647256;8766818;8988336;9002552;9006339;9027512 4282 I4AY87;P14174 ABBA01055124;AF469046;AK311929;AMYH02038138;AP000350;BC000447;BC007376;BC007676;BC008914;BC013976;BC022414;BC051440;BC053376;BT007148;CH471095;CR407644;CR456520;CR541651;DQ307455;JQ846015;L10612;L19686;M25639;M95775;NG_012099;NM_002415;Z23063 AAA21814;AAA35892;AAA36179;AAA36315;AAH00447;AAH07676;AAH08914;AAH13976;AAH22414;AAH53376;AAL78635;AAP35812;ABB96245;ABM83121;ABM86316;AFM09726;BAG34870;CAA80598;CAG28572;CAG30406;CAG46452;CAK54551;CAK54850;EAW59620;NP_002406;P14174 Hs.407995 2115910 D22S1553 GIF;GLIF;MMIF L-dopachrome isomerase;L-dopachrome tautomerase;OTTHUMP00000198465;macrophage migration inhibitory factor;phenylpyruvate tautomerase APPROVED protein-coding HGNC:7097 01091 153620;261550;604302 REVIEWED 1604362 MINK1 misshapen-like kinase 1 This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 17 17 17 p13.2 4751747 4816237 + 4736635 4801356 + 4833340 4898061 + 6480464 10708748;12087176;12107410;12477932;12665801;12668260;14702039;15032605;15302935;15469942;15489334;16344560;16760206;17081983;17165161;18752142;18930710;19056867;19953087;21048137;21890473;21906983;21963094;22037766;22665485;22939624;23000965;24250222;8889548 50488 I3L1U1;I3L203;I3L2I2;I3L4T2;Q8N4C8 AB035698;AB041926;AB070507;AB209450;ABBA01054777;ABBA01054778;ABBA01054779;ABBA01054780;ABBA01054781;AC109333;AC233723;AF218033;AK096610;AL157418;AMYH02032834;AMYH02032835;AMYH02032836;AX235359;AY775058;BC028888;BC034673;BC094686;BM674875;BQ006038;CA392419;CH471108;DA653105;NG_028005;NM_001024937;NM_015716;NM_153827;NM_170663;XM_005256664;XM_005256665;XM_005256666;XM_006721530;XM_006721531;XM_006721532;XM_006721533;XM_006721534;XM_006721535;XM_006721536;XM_006721537;XM_006721538 AAG17275;AAH34673;AAV41830;ABM82084;ABM85265;BAA90753;BAA94838;BAB97271;BAD92687;CAC69813;EAW90398;EAW90399;EAW90400;EAW90401;EAW90402;EAW90403;NP_001020108;NP_056531;NP_722549;NP_733763;Q8N4C8;XP_005256721;XP_005256722;XP_005256723;XP_006721593;XP_006721594;XP_006721595;XP_006721596;XP_006721597;XP_006721598;XP_006721599;XP_006721600;XP_006721601 Hs.443417 1675505;1730113;1734370;1734498;2124414;2125545;2167048;5093640;5491228 A009U14;D17S1448E;D17S1651E;D17S559;G09516;G32837;MARC_1869-1870:991931535:1;RH76075;WI-19144 B55;MAP4K6;MGC21111;MINK;YSK2;ZC3;hMINK;hMINKbeta GCK family kinase MINK;MAPK/ERK kinase kinase kinase 6;MEK kinase kinase 6;MEKKK 6;misshapen/NIK-related kinase;mitogen-activated protein kinase kinase kinase kinase 6;serine/threonine protein kinase APPROVED protein-coding ENSG00000141503 HGNC:17565 11366 609426 REVIEWED 8662052 MIOXP1 myo-inositol oxygenase pseudogene 1 8 8 8 83800533 83801369 - 87605977 87606813 - 86593749 86594585 - 100419614 ABBA01037364;AC013751;AMYH02018363;NG_026049 pseudo HGNC:50748 INFERRED 2299990 MIMT1 MER1 repeat containing imprinted transcript 1 (non-protein coding) 19 19 19 q13.43 54394357 54402006 + 57352270 57359922 + 56840902 56848554 + 6480464 17509818;20801769 100073347 ABBA01020829;AC004792;AC006115;AMYH02036501;EF110915;NR_024059 Hs.467337 1669641;1849624;2164358;5093906 A009Y38;G32993;RH35916;SGC35094 LINC00067;MIM1;NCRNA00067 ncrna ENSG00000268654 HGNC:33464 PREDICTED 1344343 MIPEP mitochondrial intermediate peptidase The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008] 13 13 13 q12 5366999 5526241 - 24304328 24463587 - 23730189 23889448 - 1580863;6480464;8554872 10783257;12477932;1322290;16344560;18029348;20877624;21145461;21150319;21640322;21725308;21900206;22589738;23275563;24816145;8125298;9073519 4285 Q5JV14;Q99797 ABBA01007881;ABBA01007882;ABBA01007883;AK225290;AK291923;AK308908;AL139080;AL157368;AL445985;AMYH02027696;AMYH02027697;BC009934;CH471075;DA419922;NM_005932;U80034 AAC51231;AAH09934;ABM84536;ABM87838;BAF84612;EAX08328;EAX08329;NP_005923;Q99797 Hs.507498 1342079;1709782;1715469;1721507;1765869;2171727;5094168 D13S1687;D13S787;G54586;G59608;RH120899;SHGC-149289;SHGC-84707 HMIP;MIP OTTHUMP00000018121 APPROVED protein-coding ENSG00000027001 HGNC:7104 03761 602241 REVIEWED 5131590 MIPEPP1 mitochondrial intermediate peptidase pseudogene 1 7 7 112375221 112378750 - 112735166 112738695 - 100533682 ABBA01057841;AC079621;AMYH02016586;NG_028675 pseudo HGNC:39456 INFERRED 1602998 MINA MYC induced nuclear antigen MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008] 3 3 3 q11.2 96050233 96080866 - 97660661 97691295 - 97941817 97972451 - 6480464 12091391;12477932;14695334;14702039;14742713;15534111;15819408;15897898;16189514;16344560;17786344;17803656;18029348;18629780;19502796;19756735;19914733;21139048;21386990;21631300;21832049;21906983;21963094;22939629;23000965;23965803;24309373;24337011;24434654;24505346;24816145;8889548 84864 D6RCB6;H0Y8K4;H0Y9L8;Q8IUF8 AB083189;AB083190;AB083191;AB083192;AB083193;ABBA01026939;AC026100;AC110491;AK027299;AL550737;AMYH02007284;AY302110;AY390536;AY456380;BC014928;BM979079;CH471052;CR627479;DA310030;DA696177;DQ453796;NM_001042533;NM_001261829;NM_032778;NM_153182;XM_005247838;XR_241516 AAH14928;AAP59421;AAR21572;AAR27293;ABE28016;BAB55024;BAC16358;BAC16359;BAC16360;BAC16361;BAC16537;CAH10679;EAW79872;EAW79873;EAW79874;EAW79875;NP_001035998;NP_001248758;NP_116167;NP_694822;Q8IUF8;XP_005247895 Hs.570562;Hs.742206 1649483;1706858;2122429;2129871;2132441 D3S2782E;D3S4225;SHGC-77136;SHGC-77141;SHGC-80912 DKFZp762O1912;FLJ14393;MDIG;MINA53;NO52;ROX 60S ribosomal protein L27a histidine hydroxylase;MYC-induced nuclear antigen;OTTHUMP00000217524;OTTHUMP00000217525;OTTHUMP00000217526;bifunctional lysine-specific demethylase and histidyl-hydroxylase MINA;histone lysine demethylase MINA;mineral dust induced gene protein;mineral dust-induced gene protein;myc-induced nuclear antigen, 53 kDa;nucleolar protein 52;ribosomal oxygenase MINA APPROVED protein-coding ENSG00000170854 HGNC:19441 17575 612049 VALIDATED 735323 MIP major intrinsic protein of lens fiber Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008] 12 12 12 q13 56496656 56501806 - 56843286 56848435 - 56449502 56454651 - 1599936;1580863;6480464;7240710;8554872 10802646 10067969;10634618;11001937;12107413;12477932;12522663;12642491;1505237;15274640;15489334;16549056;16564824;17893667;1790714;17932686;17960133;18004741;18247294;1840563;18501347;1911643;19137077;19723544;19857466;19913121;20361015;20628086;21139677;21232536;21245956;21647270;2176601;21850180;21921980;22036630;22662182;23116563;2335219;24144296;24250222;24319327;24405844;2487274;7525161;7536742;8529419;8566800;8889548;8910261;9268644;9421492;9664032 4284 P30301 ABBA01008424;AC024884;AK307357;AMYH02026570;BC074913;BC117474;BM696300;BM705396;BM716579;BM724221;CD675949;CH471054;NG_021397;NM_012064;U36308 AAC02794;AAH74913;AAI17475;ADR82888;EAW96940;NP_036196;P30301 Hs.574026 1734018;1746885 D12S1125;G64800 AQP0;CTRCT15;LIM1;MIP26;MP26 OTTHUMP00000244021;aquaporin 0;lens fiber major intrinsic protein;major intrinsic protein of eye lens fiber APPROVED protein-coding ENSG00000135517 HGNC:7103 01098 154050;615274 REVIEWED 737368 MIOX myo-inositol oxygenase ENCODES a protein that exhibits ferric iron binding; inositol oxygenase activity; aldo-keto reductase (NADP) activity (ortholog); INVOLVED IN inositol catabolic process; PARTICIPATES IN ascorbate and aldarate metabolic pathway; inositol phosphate metabolic pathway; FOUND IN extracellular vesicular exosome; cytoplasm (ortholog); inclusion body (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); ammonium chloride (ortholog) 22 22 22 q13.3 34801247 34804784 + 50925213 50928750 + 50486784 50490321 + 631888;1580863;6480464;6907045 10944187 10591208;11716759;12477932;14702039;15461802;15489334;15504367;15778219;18364358;19896870;2226462;3017301 55586 A6PVH2;A6PVH4;Q9UGB7 ABBA01042630;AF197129;AL096767;AMYH02038614;AMYH02038615;AY064416;AY738258;BC012025;BC064395;BC073848;CH471138;CR456478;NM_017584;XM_005261925;XR_244455 AAF25204;AAH12025;AAH73848;AAL47192;AAV65816;CAG30364;CAK54459;CAK54758;EAW73544;EAW73545;EAW73546;EAW73547;NP_060054;Q9UGB7;XP_005261982 Hs.129227 5037552;5091792 D8S2279;RH48341 ALDRL6;MGC90217 MI oxygenase;OTTHUMP00000196606;OTTHUMP00000196607;OTTHUMP00000196608;OTTHUMP00000196609;aldehyde reductase (aldose reductase) like 6;aldehyde reductase-like 6;inositol oxygenase;kidney-specific protein 32;renal-specific oxidoreductase protein-coding HGNC:14522 12443 606774 VALIDATED 733356 MINPP1 multiple inositol-polyphosphate phosphatase 1 This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009] 10 10 10 q23 83010751 83059744 + 89264223 89313218 + 87504466 87553461 + 737769;6480464;6907045;7240710;8554872;8699517 11297621 10087200;10938126;11230166;11536049;12477932;12975309;15164054;15489334;16335952;16344560;16385451;17207965;18413611;18497331;19460752;19850743;20304771;21071540;21139048;21906983;23186306;9472008;9923613 9562 Q9UNW1 AB209819;ABBA01021966;ABBA01021967;AF046914;AF046915;AF084943;AF084944;AK304624;AK309176;AK312937;AL050356;AL138767;AL355334;AMYH02023500;AW243689;AY358938;BC032504;BU173009;CH471066;DA295586;NG_013023;NM_001178117;NM_001178118;NM_004897;XM_006718078 AAD02437;AAD02438;AAD09751;AAD09752;AAH32504;AAQ89297;ADQ31759;BAD93056;BAG35779;BAG65406;CAB43673;EAW50185;EAW50186;NP_001171588;NP_001171589;NP_004888;Q9UNW1;XP_006718141 Hs.121260 2108827;2119267;2140743;2152537;5022653 A008Y13;MINPP1;MINPP1_8958;RH44276;SHGC-58350 DKFZp564L2016;HIPER1;MINPP2;MIPP 2,3-BPG phosphatase;2,3-bisphosphoglycerate 3-phosphatase;OTTHUMP00000020026;OTTHUMP00000020027;inositol (1,3,4,5)-tetrakisphosphate 3-phosphatase;ins(1,3,4,5)P(4) 3-phosphatase;multiple inositol polyphosphate histidine phosphatase, 1;multiple inositol polyphosphate phosphatase 1;multiple inositol polyphosphate phosphatase 2 APPROVED protein-coding ENSG00000107789 HGNC:7102 05652 188470;605391 VALIDATED 1349021 MIR1-1HG MIR1-1 host gene ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 20 20 20 q13.33 57857990 57878307 + 61147660 61167971 + 62550453 62570764 + 8554872 11780052;12477932;14702039;15489334;23535732;8681137 128826 Q4VX86;Q9H1L0 ABBA01012316;AK056985;AL449263;AMYH02037435;BC110595;CH471077;F35210;LN608765;LN608766;NM_178463 AAI10596;ACT64434;ACT64435;EAW75355;NP_848558;Q9H1L0 Hs.86507 1689095 RH91878 C20orf166;FLJ32423;MGC129808;MIR1-1HG;MIR133A2HG;dJ353C17.1 MIR133A2 host;OTTHUMP00000045645;hypothetical protein LOC128826;uncharacterized protein C20orf166 APPROVED protein-coding ENSG00000174407 HGNC:16159 12755 VALIDATED 1344580 MIPOL1 mirror-image polydactyly 1 This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010] 14 14 14 q13.3 17530709 17881334 + 37667118 38020464 + 37197913 37551259 + 6480464;7240710;8699517;8554872 11954550;12477932;12700605;15489334;16712791;18029348;19667180;20379614;21906983;24255178;24722188 145282 A8K735;G3V2C4;G3V3K8;G3V5R6;G5EA54;Q49AL5;Q4G0U7;Q8TD10 ABBA01061530;ABBA01061531;AK291850;AL079304;AL109759;AL121790;AL121857;AMYH02029031;AMYH02029032;AMYH02029033;AMYH02029034;AMYH02029035;AMYH02029036;AMYH02029037;AMYH02029038;AY059470;BC035870;BC036124;BC036523;BX537396;BX537870;BX647795;CB105473;CH471078;NG_027724;NM_001195296;NM_001195297;NM_138731;XM_005267352;XM_005267353;XM_006720045 AAH35870;AAH36124;AAH36523;AAL27798;BAF84539;CAD97638;CAD97872;EAW65846;EAW65847;EAW65848;EAW65849;EAW65850;NP_001182225;NP_001182226;NP_620059;Q8TD10;XP_005267409;XP_005267410;XP_006720108 Hs.660396 1667092;1677168;1705356;1711244;1717531;1718773;1724327;2121293;2155296;2190345;5014554;5015603;5015615;5115198 CGR58;D11S2442;D11S2951;D11S3076;G02231;G36018;G36255;RH119086;RH122070;RH123077;RH48004;RH75590;SHGC-83530;SHGC-84980 DKFZp313M2036;MGC34010 OTTHUMP00000178878;OTTHUMP00000244828;OTTHUMP00000244829;mirror-image polydactyly gene 1 protein APPROVED protein-coding ENSG00000151338 HGNC:21460 06029 135750;606850 REVIEWED 1601868 MIOS missing oocyte, meiosis regulator, homolog (Drosophila) FOUND IN lysosomal membrane; INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; cobalt dichloride 7 7 7 p21.3 7575046 7615531 + 7606522 7647112 + 7566891 7607481 + 6480464 12477932;14702039;14973288;16344560;17897319;19615732;21139048;21890473;23000965;24163370 54468 C9JAQ1;C9JTV2;C9JUE6;Q9NXC5 ABBA01056519;ABBA01056520;ABBA01056521;AC004982;AK000330;AK096829;AK294561;AL136892;AMYH02015192;AMYH02015193;BC005883;BC068512;BC140833;BC140834;CH236948;CH471073;DB300609;DB451117;NM_019005;XM_005249780;XM_005249781;XM_005249782;XM_005249783;XM_005249784 AAC31788;AAH05883;AAI40834;AAI40835;BAA91090;BAG57758;CAB66826;EAW93598;EAW93599;EAW93600;EAW93601;EAW93602;NP_061878;Q9NXC5;XP_005249837;XP_005249838;XP_005249839;XP_005249840;XP_005249841 Hs.520215 1695002;2142216;5022674;5109663 D7S2067E;FLJ20323;G44714;STS-H77456 FLJ20323 H_DJ1159O04.1;OTTHUMP00000201670;OTTHUMP00000201671;WD repeat-containing protein mio;WUGSC:H_DJ1159O04.1 protein-coding ENSG00000164654 HGNC:21905 07898 615359 VALIDATED 5490875 MIPEPP3 mitochondrial intermediate peptidase pseudogene 3 INTERACTS WITH valproic acid 13 13 13 q12.11 2934028 2941344 + 21872264 21967062 + 21298125 21392923 + 6480464 10409428;14702039;16344560;23251661;23400010 650794 ABBA01068604;ABBA01068605;AK093279;AL136219;AL139380;AL158032;AMYH02027658;AMYH02027659;BG940872;DA538853;NR_038939;NR_046461 Hs.147563 1716037;1748433;2187909 G64218;G66094;RH120957 LINC00539 pseudo HGNC:39458 VALIDATED 1346542 MIR1-1 microRNA 1-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 57861849 57861919 + 61151513 61151583 + 62554306 62554376 + 6480464 12007417;15951802;16381832;17604727;17606841;18593903;19896465;20041488;20075508;20158877;20458751;20843712;20937250;21051663;21642241;21645416;21685920;21752897;21998125;22059741;22178073;22210864;22308266;22370643;22569256;22766685;22982320;23079087;23142026;23229283;23352489;23499676;23535732;23625462;23630629;23828229;24391925;24501096 406904 ABBA01012316;AL449263;AMYH02037435;NR_029780 MIRN1-1;hsa-mir-1-1;miRNA1-1 APPROVED ncrna HGNC:31499 609326 PROVISIONAL 1350943 MIR1-2 microRNA 1-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 q11.2 16215028 16215112 - 19408965 19409049 - 21829004 21829088 - 12007417;15951802;16381832;17604727;20158877;20842122;20889907;21685920;22059741;23630629;23921124;24501096 406905 ABBA01022670;AC103987;AMYH02034385;NG_033272;NR_029662 MIRN1-2;hsa-mir-1-2;miRNA1-2 APPROVED ncrna HGNC:31500 610252 PROVISIONAL 1345212 MIR101-1 microRNA 101-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p31.3 63814935 63815009 - 65524117 65524191 - 65058434 65058508 - 6480464 11914277;15325244;16381832;17604727;17616659;19008416;19133651;20889907;20956939;21172309;21228036;21270667;21291913;21297974;21321380;21532618;21654684;21849855;21915098;22609199;22677230;22989749;23013439;23071542;23139385;23178713;23226399;23557329;23608225;23618864;23788032;23962556;24002871;24012420;24289600 406893 ABBA01074551;AF480499;AF480539;AL357078;AMYH02001175;NR_029516 MIRN101-1 APPROVED ncrna ENSG00000199135 HGNC:31488 612511 PROVISIONAL 1345382 MIR100 microRNA 100 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q24.1 119183604 119183683 - 122022937 122023016 - 122152229 122152308 - 6480464 11914277;16381832;17604727;17616659;19138993;19372056;19739117;19851984;20081105;20158877;20585341;20732906;20869334;20889907;21212412;21636267;21643017;21785383;22099053;22120675;22246341;22249248;22393979;22684006;22920721;22926517;23151088;23173870;23292834;23327924;23373509;23378187;23418555;23503652;23611267;23724047;23778527;23842624;23915977;24030073;24048714;24317814;24559685 406892 ABBA01031297;AF480498;AF480538;AMYH02025697;AP001359;NR_029515 MIRN100;miR-100 APPROVED ncrna ENSG00000207994 HGNC:31487 613186 PROVISIONAL 1351023 MIR103A1 microRNA 103a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q34 164023249 164023326 - 167987901 167987978 - 168560896 168560973 - 6480464 11914277;15183728;16381832;17604727;17616659;20158877;21179570;22253921;24037889 406895 ABBA01044122;AC020894;AF480501;AF480545;AMYH02012700;NR_029520 MIR103-1;MIRN103-1 APPROVED ncrna HGNC:31490 613187 PROVISIONAL 4892400 MIR100HG mir-100-let-7a-2 cluster host gene (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 11 11 11 q24.1 119120491 119234460 - 121959811 122293579 - 122089103 122203062 - 6480464;8554872 12477932;14702039;19531736;19779542;21031016;25027842 399959 ABBA01031296;ABBA01031297;AK021552;AK091713;AK123947;AK311309;AMYH02025697;AMYH02025698;AP000755;AP001359;AP001924;BC040599;BX538058;BX647608;HG504255;HG504256;HG504257;HG504258;HG504259;HG504261;HG504264;KF459770;KF459772;KF459773;KF459774;KF459775;KF459776;KF459777;KF459778;KF459779;KF459784;LN608412;LN608413;LN608414;NR_024430 Hs.44098;Hs.732590 1671388;1700502;1715275;1732385;2120861;2137454;2141177;2174704;2177699;5093306 A009L12;D11S1860;FB17D4;G32641;RH103872;RH119888;RH36606;RH66266;SHGC-31166;WI-16084 AGD1;DKFZp686J24156;DKFZp686L0115;FLJ11490;FLJ18351;FLJ34394;FLJ41953;RP11-166D19.1;lncRNA-N2 ncrna HGNC:39522 615965 VALIDATED 4891981 MIPEPP2 mitochondrial intermediate peptidase pseudogene 2 1 1 1 q43 212194821 212196425 - 238940425 238942029 - 238777125 238778729 - 22158540 100130099 ABBA01033209;AL583825;AL596107;AMYH02003000;NG_022759 1716649;1747593;2134634 AL009609;G65502;RH121581 pseudo HGNC:39457 INFERRED 1347793 MIR101-2 microRNA 101-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 p24.1 4775888 4775966 + 4850297 4850375 + 4850297 4850375 + 6480464 11914277;15325244;16381832;17604727;17616659;19008416;19133651;20889907;23557329;23788032 406894 ABBA01065419;AF480540;AL158147;AMYH02019080;NR_029836 MIRN101-2 APPROVED ncrna HGNC:31489 612512 PROVISIONAL 1348325 MIR105-1 microRNA 105-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q28 151807496 151807576 - 151560691 151560771 - 152392219 152392299 - 11914277;16381832;17604727;23950948 406897 ABBA01037311;AC108171;AF480503;AF480547;AMYH02040789;NR_029521 MIRN105-1 APPROVED ncrna ENSG00000207957 HGNC:31492 300811 PROVISIONAL 1350334 MIR105-2 microRNA 105-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q28 151809689 151809769 - 151562884 151562964 - 152394412 152394492 - 11914277;16381832;17604727;23950948 406898 ABBA01037311;AC108171;AF480548;AMYH02040789;NR_029522 MIRN105-2 APPROVED ncrna ENSG00000207818 HGNC:31493 300812 PROVISIONAL 1345954 MIR103A2 microRNA 103a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 p13 3960014 3960091 + 3898141 3898218 + 3917494 3917571 + 6480464 11914277;12477932;15183728;16381832;17604727;17616659;19144710;20158877 406896 ABBA01053841;AF480544;AL353194;AMYH02036611;NR_029519 MGC17708;MIR103-2;MIRN103-2 APPROVED ncrna HGNC:31491 613188 PROVISIONAL 1346170 MIR107 microRNA 107 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q23.31 85099321 85099401 - 91352504 91352584 - 89592747 89592827 - 6480464 11914277;12624257;16381832;17604727;18234899;19688090;19692702;20308559;20413881;20489155;20833636;20884628;20889907;21029372;21179570;21264532;21625387;21628465;21841313;22158047;22407237;22593189;22723340;22811466;23220650;23299462;23423139;23572380;23627613;23811124;24088786;24374340;24429361;24560669 406901 ABBA01021945;AF480505;AF480550;AJ550401;AL157400;AMYH02023510;NG_029474;NR_029524 MIRN107;miR-107 APPROVED ncrna HGNC:31496 613189 VALIDATED 1353045 MIR106A microRNA 106a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133691061 133691141 - 133304228 133304308 - 134170198 134170278 - 6480464 11914277;12554860;12624257;16381832;17604727;19307576;20089119;20349219;20628822;21370248;21454525;21656380;22431000;22912877;23178825;23399447;23416698;23438603;23562609;23638178;23807165;23857602;23904379;23932924;23950216;24013584;24045973;24124917;24440352;24444603 406899 ABBA01042404;AC002407;AF480504;AF480549;AJ550400;AMYH02040525;NR_029523 MIRN106A;mir-106 APPROVED ncrna ENSG00000207602 HGNC:31494 300792 PROVISIONAL 1352164 MIR10B microRNA 10b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q31.1 170624210 170624319 + 177015031 177015140 + 176150303 176150412 + 6480464 12624257;14573789;16381832;16549775;17604727;17616659;17898713;19536818;19780876;20075075;20550523;20732742;20843787;20889907;21118818;21212796;21241449;21419107;21471404;21562367;21642433;21652542;21769427;22018284;22020939;22057972;22293682;22318752;22322955;22528944;22573479;22580603;22836757;22847191;22915757;22983574;23034333;23125021;23206733;23238818;23307328;23351547;23563786;23670532;23839045;23987127;24100613;24175854;24376640;24793999 406903 ABBA01062219;AC009336;AJ550395;AMYH02005297;NR_029609 MIRN10B;hsa-mir-10b;miRNA10B;mir-10b APPROVED ncrna ENSG00000207744 HGNC:31498 611576 VALIDATED 2946922 MIR103B1 microRNA 103b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 164023257 164023318 + 167987909 167987970 + 168560904 168560965 + 16381832;18524951 100302238 ABBA01044122;AC020894;AMYH02012700;NR_031721 1335317 D3S2415 MIR103-1AS;MIRN103-1AS;hsa-mir-103-1-as APPROVED ncrna HGNC:35384 PROVISIONAL 2946909 MIR103B2 microRNA 103b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 3960022 3960083 - 3898149 3898210 - 3917502 3917563 - 16381832;18524951 100302282 ABBA01053841;AL353194;AMYH02036611;NR_031722 1648608 RH48352 MIR103-2-AS;MIR103-2AS;MIRN103-2AS;hsa-mir-103-2-as APPROVED ncrna HGNC:35385 PROVISIONAL 1348739 MIR10A microRNA 10a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q21.32 43111353 43111462 - 46657200 46657309 - 48579838 48579947 - 6480464 12624257;16381832;16549775;17604727;17616659;18773208;19074828;19461655;19462682;19747919;20588024;21118818;21212796;21784052;22348345;22407312;22634495;22955733;22976466;22983574;22996586;23272089;23321646;23685355;23696417;23867826;23968733;24100613;24103260;24522205 406902 ABBA01041172;AC103702;AJ550394;AMYH02033542;NR_029608 MIRN10A;hsa-mir-10a;miRNA10A;mir-10a APPROVED ncrna ENSG00000274592 HGNC:31497 610173 PROVISIONAL 1346496 MIR106B microRNA 106b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q22.1 94426275 94426356 - 99691616 99691697 - 100093993 100094074 - 6480464;8554872 12919684;15634332;15800047;15978578;16381832;17604727;17616659;18212054;18230126;18328430;19096009;19486339;20167074;20388916;20609231;20637509;20889907;21283757;21283765;21953646;22119192;22393390;22613985;22825541;22986525;23087084;23255112;23307259;23338559;23377830;23483935;23611780;23899543;23912048;24002805;24036151;24135225;24416400;24842611 406900 ABBA01013238;AC073842;AMYH02016371;CH236956;NR_029831 MIRN106B APPROVED ncrna HGNC:31495 612983 PROVISIONAL 2312899 MIR1180 microRNA 1180 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 16660642 16660710 - 19247819 19247887 - 19344506 19344574 - 6480464 16381832;17922033;19508715;23034410 100302256 ABBA01054610;AC124066;AMYH02033165;NG_031885;NR_031591 MIRN1180;hsa-mir-1180 APPROVED ncrna HGNC:35261 VALIDATED 2312993 MIR1183 microRNA 1183 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 21496173 21496261 + 21510676 21510764 + 21471058 21471146 + 6480464 16381832;17922033 100302122 ABBA01056683;AC004595;AMYH02015344;CH236948;NR_031594 MIRN1183;hsa-mir-1183 APPROVED ncrna HGNC:35264 PROVISIONAL 2312924 MIR1181 microRNA 1181 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 10408840 10408920 - 10514134 10514214 - 10403458 10403538 - 6480464 16381832;17922033;22268729 100302213 ABBA01029932;AC011548;AMYH02035495;NR_031592 MIRN1181;hsa-mir-1181 APPROVED ncrna HGNC:35262 PROVISIONAL 2312985 MIR1182 microRNA 1182 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q42.2 204422161 204422257 - 231155574 231155670 - 231019828 231019924 - 16381832;17922033 100302132 ABBA01033033;AL732414;AMYH02002885;NR_031593 MIRN1182;hsa-mir-1182 APPROVED ncrna HGNC:35263 PROVISIONAL 2312909 MIR1179 microRNA 1179 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 65552227 65552317 + 89151338 89151428 + 88608107 88608197 + 16381832;17922033;23408906 100302235 ABBA01053000;AC013489;AMYH02031006;NR_031590 MIRN1179;hsa-mir-1179 APPROVED ncrna ENSG00000221630 HGNC:35260 PROVISIONAL 2312890 MIR1178 microRNA 1178 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q24.23 119784484 119784574 - 120151439 120151529 - 119713634 119713724 - 8554872 16381832;17922033 100302274 ABBA01020077;AC002563;AMYH02027353;NG_029792;NR_031589 MIRN1178;hsa-mir-1178 APPROVED ncrna HGNC:35259 VALIDATED 4109084 MIR1193 microRNA 1193 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 81552433 81552510 + 101496389 101496466 + 101030052 101030129 + 16381832;20300190 100422837 ABBA01048514;AL132709;AMYH02029867;NR_036132 APPROVED ncrna HGNC:38247 PROVISIONAL 4109917 MIR1184-3 microRNA 1184-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 154687178 154687276 + 155457517 155457615 + 16381832;17922033 100422977 BX276110;BX571846;NR_036260 APPROVED ncrna ENSG00000221603 HGNC:38389 PROVISIONAL 2312903 MIR1197 microRNA 1197 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 81547933 81548020 + 101491901 101491988 + 101025564 101025651 + 16381832;18230126 100302250 ABBA01048514;AL132709;AMYH02029867;NR_031713 MIRN1197;hsa-mir-1197 APPROVED ncrna ENSG00000221745 HGNC:35376 PROVISIONAL 8550032 MIR1199 microRNA 1199 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 14073361 14073479 + 16381832;23229173 102466515 ABBA01029692;AC022098;AMYH02035599;NR_106715 hsa-mir-1199 ncrna ENSG00000277805 HGNC:50081 PROVISIONAL 2312928 MIR1185-2 microRNA 1185-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 81566592 81566677 + 101510535 101510620 + 101044198 101044283 + 16381832;16954537;17922033 100302209 ABBA01048514;AL132709;AMYH02029867;NR_031571 MIRN1185-2;hsa-mir-1185-2 APPROVED ncrna ENSG00000221614 HGNC:35254 PROVISIONAL 2312923 MIR1201 microRNA 1201 16381832;17989717 100302216 AL355075;NR_031605 MIRN1201;hsa-mir-1201 miscrna HGNC:35267 2312999 MIR1200 microRNA 1200 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p14.2 36943404 36943479 - 36958962 36959037 - 36919357 36919432 - 6480464 16381832;17989717 100302113 ABBA01056911;AC078844;AMYH02015537;CH236951;NR_031604 MIRN1200;hsa-mir-1200 APPROVED ncrna HGNC:35266 PROVISIONAL 2312896 MIR1202 microRNA 1202 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 157002408 157002490 + 156267931 156268013 + 155946797 155946879 + 6480464 16381832;17989717;24908571 100302259 ABBA01025571;AL583861;AMYH02014797;NR_031606 MIRN1202;hsa-mir-1202 APPROVED ncrna ENSG00000221456 HGNC:35268 PROVISIONAL 2312926 MIR1203 microRNA 1203 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 42688155 42688239 - 46233789 46233873 - 48156427 48156511 - 16381832;17989717 100302211 ABBA01041161;AC006468;AMYH02033537;NR_031607 MIRN1203;hsa-mir-1203 APPROVED ncrna HGNC:35269 PROVISIONAL 2312965 MIR1185-1 microRNA 1185-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 81565371 81565456 + 101509314 101509399 + 101042977 101043062 + 16381832;16954537;17922033 100302157 ABBA01048514;AL132709;AMYH02029867;NR_031575 1848579 RH65612 MIRN1185-1;hsa-mir-1185-1 APPROVED ncrna ENSG00000221525 HGNC:35257 PROVISIONAL 2313001 MIR1184-1 microRNA 1184-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 154274254 154374370 - 154115635 154115733 - 154887360 154887458 - 6480464 16381832;17922033 100302111 AMYH02040863;BX842559;BX842564;BX890586;NR_036049 1702350;1741041;1741063;1741113;1742353;1787250;1795176;1801258;1802724;1803872;1804438;1804826;1804946;1805010;1806816;1810024;1810614;1810616;1810990;1811870;1815158;1815538;1817472;1819244;1819902;1820716;1820784;1824638;1826424;1827882;1828526;1831084;1831208;1834782;1837872;1838148;1839154;1839776;1840584;1840786;1841192;1843146;1844146;1844222;1844320;1846178;2039908;2039910;2039912;2039914;2039916;2039918;2039920;2039922;2039924;2039926;2039928;2039930;2039932;2039934;2039936;2039938;2039942;2039944;2039946;2039948;2039950;2039952;2039954;2039956;2039958;2039960;2039962;2039964;2039966;2039968;2039970;2039972;2039974;2039976;2039978;2039980;2039982;2039984;2039986;2039988;2039990;2039992;2039996;2039998;2040000;2040002;2040004;2040006;2040008;2040010;2040014;2040016;2040018;2040020;2040022;2040024;2040026;2040028;2040030;2040032;2040034;2040036;2040038;2040040;2040042;2040044;2040046;2040048;2040050;2040052;2040054;2040056;2040058;2040060;2040062;2040064;2040066;2040068;2040070;2040072;2040074;2040076;2040078;2040080;2040082;2040084;2040086;2040088;2040090;2040092;2040094;2040096;2040098;2040100;2040102;2040104;2040106;2040108;2040110;2040112;2040114;2040116;2040118;2040120;2040122;2040124;2040126;2040128;2040130;2040132;2040134;2040136;2040138;2040140;2040142;2040144;2040146;2040148;2040150;2040152;2040154;2040156;2040158;2040160;2040162;2040164;2040166;2040168;2040170;2040172;2040174;2040176;2040178;2040180;2040182;2040184;2040186;2040188;2040190;2040192;2040194;2040196;2040198;2040200;2040202;2040204;2040206;2040208;2040210;2040212;2040214;2040216;2040218;2040220;2040222;2040224;2040226;2040228;2040230;2040232;2040234;2040236;2040238;2040240;2040242;2040244;2040246;2040248;2040250;2040252;2040254;2040256;2040258;2040260;2040262;2040264;2040266;2040268;2040270;2040272;2040274;2040276;2040278;2040280;2040282;2040284;2040286;2040288;2040290;2040292;2040294;2040296;2040298;2040300;2040302;2040304;2040306;2040308;2040310;2040312;2040314;2040316;2040318;2040320;2040322;2040324;2040326;2040328;2040330;2040332;2040334;2040336;2040338;2040340;2040342;2040344;2040346;2040348;2040350;2040352;2040354;2040356;2040358;2040360;2040362;2040364;2040366;2040368;2040370;2040372;2040374;2040376;2040378;2040380;2040382;2040384;2040386;2040388;2040390;2040392;2040394;2040396;2040398;2040400;2040402;2040404;2040406;2040408;2040410;2040412;2040414;2040416;2040418;2040420;2040422;2040424;2040426;2040428;2040430;2040432;2040434;2040436;2040438;2040440;2040442;2040444;2040446;2040448;2040450;2040452;2040454;2040456;2040458;2040460;2040462;2040464;2040466;2040468;2040470;2040472;2040474;2040476;2040478;2040480;2040482;2040484;2040486;2040488;2040490;2040492;2040494;2040496;2040498;2040500;2040502;2040504;2040508;2040510;2040512;2040514;2040516;2040518;2040520;2040522;2040524;2040526;2040528 ECD01501;ECD02249;ECD02848;ECD03143;ECD03347;ECD03412;ECD03445;ECD04373;ECD06004;ECD06300;ECD06301;ECD06493;ECD06939;ECD08613;ECD08805;ECD09786;ECD10689;ECD11022;ECD11433;ECD11467;ECD13417;ECD14326;ECD15064;ECD15390;ECD16678;ECD16740;ECD18539;ECD20106;ECD20246;ECD20757;ECD21071;ECD21482;ECD21584;ECD21791;ECD22781;ECD23286;ECD23324;ECD23374;ECD24309;GDB:177507;GDB:177561;GDB:177816;GDB:196462;GDB:450201;HSC271_(M4);REN90981;REN90982;REN90983;REN90984;REN90985;REN90986;REN90987;REN90988;REN90989;REN90990;REN90991;REN90992;REN90993;REN90994;REN90995;REN90996;REN90998;REN90999;REN91000;REN91001;REN91002;REN91003;REN91004;REN91005;REN91006;REN91007;REN91008;REN91009;REN91010;REN91011;REN91012;REN91013;REN91014;REN91016;REN91017;REN91018;REN91019;REN91020;REN91021;REN91022;REN91023;REN91024;REN91026;REN91027;REN91028;REN91029;REN91030;REN91031;REN91032;REN91033;REN91035;REN91036;REN91037;REN91038;REN91039;REN91040;REN91041;REN91042;REN91043;REN91044;REN91045;REN91046;REN91047;REN91048;REN91050;REN91051;REN91052;REN91053;REN91054;REN91055;REN91056;REN91057;REN91058;REN91059;REN91060;REN91061;REN91062;REN91063;REN91064;REN91065;REN91066;REN91067;REN91068;REN91069;REN91070;REN91071;REN91072;REN91073;REN91074;REN91075;REN91076;REN91077;REN91078;REN91079;REN91080;REN91081;REN91082;REN91083;REN91084;REN91085;REN91086;REN91087;REN91088;REN91089;REN91090;REN91091;REN91092;REN91093;REN91094;REN91095;REN91096;REN91097;REN91098;REN91099;REN91100;REN91101;REN91102;REN91105;REN91106;REN91107;REN91108;REN91109;REN91110;REN91111;REN91112;REN91113;REN91114;REN91115;REN91116;REN91117;REN91118;REN91119;REN91120;REN91121;REN91122;REN91123;REN91124;REN91125;REN91126;REN91127;REN91128;REN91129;REN91130;REN91131;REN91132;REN91133;REN91134;REN91135;REN91136;REN91137;REN91138;REN91139;REN91140;REN91141;REN91142;REN91143;REN91144;REN91145;REN91146;REN91147;REN91148;REN91149;REN91150;REN91151;REN91152;REN91153;REN91154;REN91155;REN91156;REN91157;REN91159;REN91161;REN91162;REN91163;REN91164;REN91165;REN91166;REN91167;REN91168;REN91169;REN91170;REN91171;REN91172;REN91173;REN91174;REN91175;REN91176;REN91177;REN91178;REN91179;REN91180;REN91181;REN91182;REN91183;REN91184;REN91185;REN91186;REN91187;REN91188;REN91189;REN91190;REN91191;REN91192;REN91193;REN91194;REN91195;REN91196;REN91197;REN91198;REN91199;REN91200;REN91201;REN91202;REN91203;REN91204;REN91205;REN91206;REN91207;REN91208;REN91209;REN91210;REN91211;REN91212;REN91213;REN91214;REN91215;REN91216;REN91217;REN91218;REN91219;REN91220;REN91221;REN91222;REN91223;REN91224;REN91225;REN91226;REN91227;REN91228;REN91229;REN91230;REN91231;REN91232;REN91233;REN91234;REN91235;REN91236;REN91237;REN91238;REN91239;REN91240;REN91241;REN91242;REN91243;REN91244;REN91245;REN91247;REN91248;REN91249;REN91250;REN91251;REN91252;REN91253;REN91254;REN91255;REN91256;REN91257;REN91258;REN91259;REN91260;REN91261;REN91262;REN91263;REN91264;REN91265;REN91266;REN91267;REN91268;REN91269;REN91270;REN91271;REN91272;REN91273;REN91274;REN91275;REN91276;REN91277;REN91278;REN91279;REN91280;REN91281;REN91282;REN91283;REN91284;REN91285;REN91286;REN91288;REN91289;REN91290;REN91291;REN91292;REN91293;REN91294;REN91295;REN91296;REN91297;REN91298;SHGC-143362 MIR1184;MIRN1184;hsa-mir-1184;hsa-mir-1184-1 APPROVED ncrna HGNC:35265 PROVISIONAL 4108934 MIR1184-2 microRNA 1184-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 154612749 154612847 - 155383100 155383198 - 16381832;17922033 100422985 ABBA01029147;AC234781;AMYH02040884;BX682237;NR_036259 APPROVED ncrna ENSG00000221190 HGNC:38211 PROVISIONAL 2312962 MIR1205 microRNA 1205 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 125153674 125153736 + 128972879 128972941 + 127960633 127960695 + 16381832;18314482 100302161 ABBA01037953;AC103705;AMYH02018765;NR_031610 MIRN1205;hsa-mir-1205 APPROVED ncrna ENSG00000221771 HGNC:35271 PROVISIONAL 2312874 MIR1224 microRNA 1224 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q27.1 182399957 182400041 + 183959193 183959277 + 184241405 184241489 + 6480464;8554872 16381832;16954537;17964270;22472876 100187716 ABBA01058452;AC061705;AMYH02008305;NR_030410 MIRN1224 APPROVED ncrna HGNC:33923 611620 PROVISIONAL 2312952 MIR1207 microRNA 1207 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 125241705 125241791 + 129061398 129061484 + 128049152 128049238 + 6480464 16381832;18314482;22319602;24204837;24481448 100302175 ABBA01037954;AC103705;AMYH02018766;NR_031612 MIRN1207;hsa-mir-1207 APPROVED ncrna ENSG00000221176 HGNC:35273 PROVISIONAL 1347392 MIR122 microRNA 122 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 q21.31 52834313 52834397 + 56118306 56118390 + 58451074 58451158 + 6480464 12007417;15978578;16381832;16924677;17604727;17616664;17919492;18550664;18692484;19020517;19021529;19122656;19296470;19403413;19584283;19607815;19617899;19846523;19891584;19917630;20124555;20150764;20351063;20395958;20427538;20561966;20625373;20637242;20739924;20859956;20889907;20960104;21177824;21185047;21199296;21229610;21383155;21402708;21478871;21556053;21692939;21725618;21750653;21763238;21868483;21903935;22072754;22105316;22114337;22140464;22189820;22215596;22235305;22276989;22532678;22587332;22593164;22610888;22815988;22957141;22999255;23026916;23029162;23055569;23056576;23118427;23126531;23178710;23189819;23200856;23221562;23248316;23327642;23334867;23348614;23373973;23512276;23537271;23579640;23616647;23703729;23793894;23810247;23826300;23872065;23881584;24038073;24085423;24086271;24106328;24130780;24130799;24168656;24282590;24287929;24466275;24672032 406906 ABBA01056147;AC105105;AMYH02034808;NR_029667 1679133;1725605;2139188 G62091;RH36326;RH99202 MIR122A;MIRN122;MIRN122A;hsa-mir-122;miRNA122;miRNA122A APPROVED ncrna HGNC:31501 609582 PROVISIONAL 2313002 MIR1225 microRNA 1225 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.3 2352309 2352398 - 2140196 2140285 - 2090195 2090284 - 6480464 16381832;17964270;23861881 100188847 ABBA01030275;AC093513;AMYH02031242;NR_030646 1745797 GDB:641995 MIRN1225 APPROVED ncrna HGNC:33931 611621 PROVISIONAL 2312944 MIR1204 microRNA 1204 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 124988571 124988637 + 128808208 128808274 + 127795962 127796028 + 16381832;18314482;22110125 100302185 ABBA01037949;AC103819;AMYH02018763;NR_031609 2131597 STS-S79854 hsa-mir-1204 APPROVED ncrna ENSG00000275264 HGNC:37059 PROVISIONAL 2312885 MIR1227 microRNA 1227 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 2168238 2168325 - 2234061 2234148 - 2234062 2234149 - 16381832;17964270 100302283 ABBA01002714;AC005263;AMYH02035186;NG_029793;NR_031596 MIRN1227;hsa-mir-1227 APPROVED ncrna HGNC:33932 VALIDATED 2312911 MIR1226 microRNA 1226 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.31 47840904 47840978 + 47891045 47891119 + 47849555 47849629 + 16381832;17964270;20514397 100302232 ABBA01024669;AC139667;AMYH02006706;NR_031595 1684240;1684242 RH69910;RH99010 MIRN1226;hsa-mir-1226 APPROVED ncrna HGNC:33922 PROVISIONAL 2312934 MIR1228 microRNA 1228 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 57588287 57588359 + 57194504 57194576 + 6480464 16381832;17964270;22434376;23362149;23554909;24488924 100302201 AC137834;AMYH02026578;NR_031597 MIRN1228;hsa-mir-1228 APPROVED ncrna HGNC:33928 PROVISIONAL 2312956 MIR1206 microRNA 1206 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 125201946 125202004 + 129021144 129021202 + 128008898 128008956 + 16381832;18314482;23077621 100302170 ABBA01037953;AC103705;AMYH02018766;NR_031611 MIRN1206;hsa-mir-1206 APPROVED ncrna HGNC:35272 PROVISIONAL 2312966 MIR1229 microRNA 1229 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 174850435 174850503 - 179225278 179225346 - 179798278 179798346 - 16381832;17964270 100302156 ABBA01010042;AC008393;AMYH02012892;NG_028161;NR_031598 MIRN1229;hsa-mir-1229 APPROVED ncrna HGNC:33924 VALIDATED 2312963 MIR1233-1 microRNA 1233-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 11483094 11483175 - 34674270 34674351 - 34382069 34382150 - 6480464 16381832;17964270;21984948 100302160 AC025678;NR_036050 MIR1233;MIRN1233;hsa-mir-1233;hsa-mir-1233-1 APPROVED ncrna HGNC:33929 PROVISIONAL 2312938 MIR1234 microRNA 1234 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 145625476 145625559 - 6480464 16381832;17964270 100302196 AF205589;NR_031600 2185717 STS-R82814 MIRN1234;hsa-mir-1234 APPROVED ncrna HGNC:33926 PROVISIONAL 2312887 MIR1237 microRNA 1237 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 61462074 61462175 + 64136074 64136175 + 64368602 64368703 + 16381832;17964270 100302280 ABBA01003301;AMYH02024934;AP003774;NR_031602 MIRN1237;hsa-mir-1237 APPROVED ncrna HGNC:33927 PROVISIONAL 2312886 MIR1208 microRNA 1208 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q24.21 125342678 125342750 + 129162362 129162434 + 128150116 128150188 + 16381832;18314482;23042114;23535729 100302281 ABBA01037957;AC007860;AMYH02018766;NR_031613 MIRN1208;hsa-mir-1208 APPROVED ncrna ENSG00000221261 HGNC:35274 PROVISIONAL 2312914 MIR1238 microRNA 1238 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 10557514 10557596 + 10662798 10662880 + 10552122 10552204 + 6480464 16381832;17964270 100302226 ABBA01029914;AC011461;AMYH02035498;NR_031603 MIRN1238;hsa-mir-1238 APPROVED ncrna HGNC:33933 PROVISIONAL 2312906 MIR1236 microRNA 1236 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 33524378 33524479 - 31924616 31924717 - 31956839 31956940 - 6480464;8554872 16381832;17964270;22223733;23535732 100302242 ABBA01038099;AL645922;AL662849;AL844853;AMYH02013456;BX005143;CR388219;CR753845;CR759782;NG_032652;NR_031601 MIRN1236;hsa-mir-1236 APPROVED ncrna HGNC:33925 VALIDATED 2312964 MIR1231 microRNA 1231 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 174901560 174901651 + 201777739 201777830 + 201808611 201808702 + 16381832;17964270;22824466 100302158 ABBA01027524;AL645504;AMYH02002483;NR_031599 MIRN1231;hsa-mir-1231 APPROVED ncrna HGNC:33921 PROVISIONAL 2312942 MIR1243 microRNA 1243 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 111319661 111319753 + 114028019 114028111 + 113106863 113106955 + 16381832;18285502 100302188 ABBA01063830;AC093879;AMYH02009944;NG_009006;NR_031641 MIRN1243;hsa-mir-1243 APPROVED ncrna HGNC:35304 VALIDATED 7246397 MIR124-2HG MIR124-2 host gene (non-protein coding) INTERACTS WITH valproic acid 8 8 8 q12.3 61275785 61281390 + 65285775 65291388 + 64373218 64387504 + 6480464 12107411;14702039;16344560;8889548 100130155 ABBA01041851;AC013492;AK124231;AK124256;AMYH02018084;AW162357;BM706891;BM717762;BQ639660;BU726941;BX096487;BX537900;DB176551;HG501281;HG501284;NR_034102;NR_034103;NR_109792;NR_109793;R12755 Hs.7023;Hs.729149;Hs.731717 1673596;2162345;2164424 A009A45;RH48068;RH66774 LINC00966;RP11-32K4.2 APPROVED ncrna ENSG00000254377 HGNC:48723 VALIDATED 1346807 MIR124-2 microRNA 124-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q12.3 61281708 61281816 + 65291706 65291814 + 64379149 64379257 + 6480464 12007417;12554860;15183728;15325244;16381832;17604727;19843643;21112327;21917081;23176198;23334332;24375250 406908 ABBA01041851;AC013492;AMYH02018084;NR_029669 1671662;2176149 A004N38;SGC31875 MIRN124-2;MIRN124A2 APPROVED ncrna ENSG00000207816 HGNC:31503 PROVISIONAL 2312884 MIR1244-1 microRNA 1244-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 2 12 10929203 10929287 - 232578024 232578108 + 9239467 9239551 - 16381832;18285502 100302285 ABBA01012258;AC010175;AMYH02025998;NR_036052 MIR1244;MIRN1244;hsa-mir-1244;hsa-mir-1244-1 APPROVED ncrna HGNC:35310 PROVISIONAL 1342588 MIR124-3 microRNA 124-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 58487339 58487425 + 61809852 61809938 + 63178500 63178586 + 12007417;12554860;15183728;15325244;16381832;17604727;19843643;21112327;21917081;23321515;23334332;24180482;24375250 406909 ABBA01021389;AL096828;AMYH02037450;NR_029670 MIRN124-3;MIRN124A3 APPROVED ncrna ENSG00000207598 HGNC:31504 PROVISIONAL 2312921 MIR1245A microRNA 1245a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q32.2 183437677 183437746 + 189842818 189842887 + 188978092 188978161 + 16381832;18285502;22158906 100302219 ABBA01062370;AC066694;AMYH02005422;NR_031647 MIR1245;MIRN1245;hsa-mir-1245;hsa-mir-1245a APPROVED ncrna HGNC:35311 PROVISIONAL 4109945 MIR1244-2 microRNA 1244-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 12 114257194 114257278 + 118310281 118310365 + 12111952 12112036 + 16381832;18285502 100422885 ABBA01067829;AC007537;AMYH02026050;NR_036262 APPROVED ncrna HGNC:38321 PROVISIONAL 2312977 MIR1246 microRNA 1246 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q31.1 171068496 171068568 - 177465708 177465780 - 176600980 176601052 - 6480464 16381832;18285502;22751441 100302142 ABBA01062224;AC017048;AMYH02005300;NR_031648 MIRN1246;hsa-mir-1246 APPROVED ncrna HGNC:35312 PROVISIONAL 2312976 MIR1248 microRNA 1248 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] q27.3 6480464 16381832;18285502 100302143 AC112907;NR_031650 MIRN1248;hsa-mir-1248 APPROVED ncrna HGNC:35314 PROVISIONAL 2312974 MIR1247 microRNA 1247 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 82081713 82081848 - 102026624 102026759 - 101560287 101560422 - 6480464;8554872 16381832;18285502;24014021 100302145 ABBA01048510;AL049836;AMYH02029877;NR_031649 2131597 STS-S79854 MIRN1247;hsa-mir-1247 APPROVED ncrna ENSG00000277601 HGNC:35313 PROVISIONAL 2312970 MIR1249 microRNA 1249 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q13.31 29508273 29508338 - 45596835 45596900 - 45200954 45201019 - 6480464 16381832;18285502 100302149 ABBA01007129;AL008718;AMYH02038512;NR_031651 MIRN1249;hsa-mir-1249 APPROVED ncrna HGNC:35315 PROVISIONAL 2312883 MIR1251 microRNA 1251 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 97551316 97551385 + 97885687 97885756 + 97491909 97491978 + 6480464 16381832;18285502;18402656;23034410 100302289 ABBA01053302;AC007351;AMYH02027028;NR_031653 MIRN1251;hsa-mir-1251 APPROVED ncrna ENSG00000221479 HGNC:35317 PROVISIONAL 4109946 MIR1244-3 microRNA 1244-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 2 17407936 17408020 + 9392063 9392147 - 231713314 231713398 + 16381832;18285502 100422872 ABBA01002043;AC073476;AMYH02005975;NR_036263 APPROVED ncrna HGNC:38390 PROVISIONAL 2974680 MIR1252 microRNA 1252 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q24.23 79479707 79479771 + 79813037 79813101 + 79419257 79419321 + 16381832;18285502;23034410 100302136 ABBA01053507;AC073570;AMYH02026811;NR_031700 MIRN1252;hsa-mir-1252 APPROVED ncrna HGNC:35365 PROVISIONAL 2312929 MIR1253 microRNA 1253 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 2668020 2668124 - 2651372 2651476 - 2748078 2748182 - 16381832;18285502 100302208 ABBA01054724;AC005696;AMYH02032785;NR_031654 MIRN1253;hsa-mir-1253 APPROVED ncrna ENSG00000221200 HGNC:35318 PROVISIONAL 1349266 MIR124-1 microRNA 124-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p23.1 8887241 8887325 - 9760898 9760982 - 9903388 9903472 - 6480464 12007417;12554860;15183728;15325244;16381832;17604727;18451139;18607543;19138993;19502795;19843643;19851984;19944075;20599952;20665740;20732906;20889907;21062284;21112327;21307844;21365509;21672940;21914401;22082000;22085528;22333974;22430032;22450659;22541098;22885837;22940133;23049088;23069658;23135476;23172372;23334332;23691514;23761023;23856509;23936026;24068568;24135052;24211205;24223605;24358127;24375250;24875359;24913567 406907 ABBA01026897;AC055869;AMYH02017422;NR_029668 1656459;1657503;1789054;2147241 G65662;RH78832;SHGC-31177;STS-AA001426 MIR124A;MIR124A1;MIRN124-1;MIRN124A1 APPROVED ncrna ENSG00000275677 HGNC:31502 609327 PROVISIONAL 2946917 MIR1254-1 microRNA 1254-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q21.3 63794985 63795081 + 70519075 70519171 + 68759318 68759414 + 16381832;18285502;21258252 100302273 ABBA01019588;AL513534;AMYH02023262;NR_031655 1736430;2117743 D14S1234;D14S693E MIR1254;MIRN1254;hsa-mir-1254;hsa-mir-1254-1 APPROVED ncrna HGNC:35319 PROVISIONAL 2312912 MIR1250 microRNA 1250 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 75735167 75735279 - 79106996 79107108 - 81133196 81133308 - 16381832;18285502;23034410 100302229 ABBA01032125;AC115099;AMYH02034118;NG_029981;NR_031652 MIRN1250;hsa-mir-1250 APPROVED ncrna HGNC:35316 VALIDATED 3497336 MIR1255B1 microRNA 1255b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 36867509 36867571 - 36427988 36428050 - 36426366 36426428 - 16381832;18285502 100313806 ABBA01074291;AC112140;AMYH02009020;NR_031701 MIR1255B-1;MIRN1255B1 APPROVED ncrna HGNC:35366 PROVISIONAL 4109058 MIR1233-2 microRNA 1233-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 34820491 34820572 - 34528290 34528371 - 16381832;17964270;22955976 100422845 ABBA01038529;AC027139;AMYH02030169;NR_036261 APPROVED ncrna HGNC:38277 PROVISIONAL 2312957 MIR1257 microRNA 1257 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 57265183 57265299 - 60528602 60528718 - 61953546 61953662 - 16381832;18285502;22268729 100302168 ABBA01040114;AC231535;AL109911;AMYH02037407;NR_031658 MIRN1257;hsa-mir-1257 APPROVED ncrna ENSG00000221417 HGNC:35322 PROVISIONAL 3497331 MIR1255B2 microRNA 1255b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 1 1 1 141077154 141077220 + 167967898 167967964 + 167998660 167998726 + 16381832;18285502 100313835 AL031287;AMYH02002095;CH236947;NR_031702 MIR1255B-2;MIRN1255B2;hsa-mir-1255b-2 APPROVED ncrna HGNC:35367 PROVISIONAL 2974669 MIR1255A microRNA 1255a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 99550658 99550770 - 102251459 102251571 - 101330302 101330414 - 16381832;18285502 100302193 AMYH02009808;AP001816;NR_031656 MIRN1255A;hsa-mir-1255a APPROVED ncrna HGNC:35320 PROVISIONAL 5134100 MIR1245B microRNA 1245b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 189842819 189842887 - 188978093 188978161 - 16381832;21199797 100616324 ABBA01062370;AC066694;AMYH02005422;NR_039947 APPROVED ncrna HGNC:41794 PROVISIONAL 2312939 MIR1259 microRNA 1259 16381832;18285502 100302194 AL049766;NR_031660 MIRN1259;hsa-mir-1259 miscrna HGNC:35324 2312967 MIR1256 microRNA 1256 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 19639960 19640078 - 21314807 21314925 - 20988314 20988432 - 16381832;18285502;23361059 100302155 ABBA01059798;AL627311;AMYH02000436;NR_031657 2172676 SHGC-17239 MIRN1256;hsa-mir-1256 APPROVED ncrna HGNC:35321 PROVISIONAL 2312908 MIR1260A microRNA 1260a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 57771200 57771272 + 77732561 77732633 + 77266218 77266290 + 6480464;8554872 16381832;18285502;23746831;24116168 100302236 ABBA01030656;AC007375;AMYH02029567;NR_031661 1736430;2117743 D14S1234;D14S693E MIR1260;MIRN1260;hsa-mir-1260;hsa-mir-1260a APPROVED ncrna ENSG00000221754 HGNC:35325 PROVISIONAL 4108921 MIR1260B microRNA 1260b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 93374805 93374893 + 96074602 96074690 + 96341438 96341526 + 16381832;20300190;23591200;24504368 100422991 ABBA01040006;AMYH02025392;AP000848;NR_036125 APPROVED ncrna ENSG00000266192 HGNC:38258 615372 PROVISIONAL 2312955 MIR1258 microRNA 1258 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q31.3 174319810 174319882 - 180725563 180725635 - 179860836 179860908 - 16381832;18285502;22488243;23415719;24554664 100302172 AC092642;AMYH02005342;NR_031659 MIRN1258;hsa-mir-1258 APPROVED ncrna HGNC:35323 614488 PROVISIONAL 1353053 MIR125A microRNA 125a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.41 49246042 49246127 + 52196507 52196592 + 51693254 51693339 + 6480464 12007417;16381832;17400653;17604727;17616659;19048628;19411564;19702827;19818772;19875930;19881956;19950226;20569443;20665731;21220473;21317190;21777146;21788734;21931172;22322911;22357933;22550173;22644326;22690848;22747700;22768249;23079745;23327190;23525486;23583196;23595744;23606749;23618359;23783428;23843939;24044511;24139697;24360988;24484870;24824183;24896104;24901105 406910 ABBA01068265;AC018755;AMYH02036391;NR_029693 MIRN125A;miRNA125A APPROVED ncrna ENSG00000208008 HGNC:31505 611191 PROVISIONAL 2312913 MIR1261 microRNA 1261 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 87902969 87903050 - 90602289 90602370 - 90869121 90869202 - 16381832;18285502;22566498 100302228 ABBA01040067;AMYH02025325;AP002782;NR_031663 MIRN1261;hsa-mir-1261 APPROVED ncrna ENSG00000221586 HGNC:35327 PROVISIONAL 1352829 MIR125B1 microRNA 125b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q24.1 119131144 119131231 - 121970465 121970552 - 122099757 122099844 - 6480464 12007417;15722555;15800047;15978578;16381832;17604727;17616659;17622355;19047678;19048628;19471102;20158877;20306291;20347935;20460378;20485370;20549700;20658525;20889907;21118986;21166724;21399871;21412257;21444677;21703189;21785383;21806957;21880154;21903586;21913998;21935352;22024720;22093834;22307404;22469780;22550173;22693547;22723551;22824797;23146892;23160634;23416980;23418555;23437196;23585871;23591197;23759586;23835866;24118912;24643683;24878024;25001178 406911 ABBA01031297;AMYH02025697;AP001924;NR_029671 MIRN125B1 APPROVED ncrna ENSG00000207971 HGNC:31506 610104 PROVISIONAL 1342678 MIR125B2 microRNA 125b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 21 q21.1 3132744 3132832 + 17962557 17962645 + 16590237 16590325 + 6480464 12007417;15722555;15800047;15978578;16381832;17604727;17616659;19048628;19471102;20158877;20460378;20658525;21562054;21879257;22307404;22357933;23503652;23759586;24046143;24098452;24169356;24517182 406912 ABBA01057101;AMYH02037544;AP000962;NR_029694 MIRN125B2 APPROVED ncrna ENSG00000207863 HGNC:31507 610105 PROVISIONAL 2312971 MIR1263 microRNA 1263 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q26.1 162289108 162289193 - 163889259 163889344 - 164171471 164171556 - 16381832;18285502 100302148 ABBA01058760;AC018457;AMYH02008057;NR_031665 MIRN1263;hsa-mir-1263 APPROVED ncrna ENSG00000221251 HGNC:35329 PROVISIONAL 2312888 MIR1262 microRNA 1262 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p31.3 66939844 66939936 - 68649201 68649293 - 68183518 68183610 - 16381832;18285502 100302279 ABBA01074511;AL513284;AMYH02001211;NR_031664 MIRN1262;hsa-mir-1262 APPROVED ncrna HGNC:35328 PROVISIONAL 2312902 MIR1264 microRNA 1264 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 114322328 114322396 + 113887130 113887198 + 114652655 114652723 + 6480464 16381832;16954537;18285502 100302251 ABBA01053596;AC007025;AC233299;AMYH02040268;NR_031563 1764671 SHGC-148260 MIRN1264;hsa-mir-1264 APPROVED ncrna HGNC:35246 PROVISIONAL 5133976 MIR1254-2 microRNA 1254-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 23682334 23682396 + 23393405 23393467 + 16381832;20733160 100616217 ABBA01034465;AL606469;AMYH02022449;NR_039606 APPROVED ncrna ENSG00000264574 HGNC:41770 PROVISIONAL 2312933 MIR1266 microRNA 1266 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 29463780 29463863 - 52569314 52569397 - 52277117 52277200 - 8554872 16381832;18285502;23034410;24481448 100302202 ABBA01039064;AC010674;AMYH02030447;NR_031670 MIRN1266;hsa-mir-1266 APPROVED ncrna HGNC:35334 PROVISIONAL 2946923 MIR1268A microRNA 1268a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 15 15 q11.2 14455362 14455392 + 22513229 22513280 - 22225278 22225329 - 6480464 16381832;18285502 100302233 ABBA01004292;AC025884;AMYH02030018;NR_031672 MIR1268;MIRN1268;hsa-mir-1268;hsa-mir-1268a APPROVED ncrna ENSG00000221641 HGNC:35336 PROVISIONAL 1348236 MIR126 microRNA 126 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q34.3 110078790 110078874 + 139565054 139565138 + 136670602 136670686 + 6480464 12007417;16381832;17604727;18193184;18227515;18474618;18602365;18663744;18773208;18834857;19116145;19223090;20034472;20083669;20423846;20619534;20621067;20651284;20671229;20680522;20889907;20953557;21046227;21086055;21163928;21249429;21264844;21269950;21304604;21439283;21464990;21483773;21856785;22012249;22064652;22170610;22510476;22525256;22574900;22688341;22719221;22740338;22867989;22874466;22900072;23029111;23136161;23142521;23144172;23285182;23301798;23378255;23396050;23418555;23437250;23458262;23553946;23595422;23603512;23615712;23744532;23811937;23838926;23877372;23893300;23900443;23922111;23968733;24014835;24033365;24037526;24055140;24153013;24237608;24350576;24360951;24428907;24455723;24477595;24532280;24823697;24875904;24994098;25076026 406913 ABBA01022716;AL590226;AMYH02021906;NR_029695 MIRN126;miRNA126 APPROVED ncrna HGNC:31508 611767 PROVISIONAL 2312997 MIR1265 microRNA 1265 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 14406211 14406296 + 14478575 14478660 + 14436576 14436661 + 6480464 16381832;18285502 100302116 ABBA01034611;AL139405;AMYH02022197;NR_031668 MIRN1265;hsa-mir-1265 APPROVED ncrna ENSG00000221371 HGNC:35332 PROVISIONAL 2312951 MIR1269A microRNA 1269a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 64604326 64604430 + 67142542 67142646 + 66276824 66276928 + 16381832;18285502 100302177 AC110809;AMYH02009357;NR_031673 MIR1269;MIRN1269;hsa-mir-1269;hsa-mir-1269a APPROVED ncrna ENSG00000221563 HGNC:35337 PROVISIONAL 4108873 MIR1270-2 microRNA 1270-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 20579240 20579322 - 16381832;18285502 100423024 AC008554;NR_036264 APPROVED ncrna ENSG00000221147 HGNC:38387 VALIDATED 2312949 MIR1270 microRNA 1270 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 20416172 20416254 - 20510081 20510163 - 20399272 20399354 - 16381832;18285502 100302179 ABBA01051352;AC078899;AMYH02035778;NR_036053 MIR1270;MIR1270-1;MIR1270-2;MIRN1270;hsa-mir-1270;hsa-mir-1270-1 APPROVED ncrna ENSG00000238517 HGNC:35338 VALIDATED 2946910 MIR1267 microRNA 1267 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 89027299 89027376 - 108183519 108183596 - 107531171 107531248 - 8554872 16381832;18285502 100302286 ABBA01027033;AL445649;AMYH02028671;NR_031671 MIRN1267;hsa-mir-1267 APPROVED ncrna HGNC:35335 PROVISIONAL 2312945 MIR1272 microRNA 1272 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 41932045 41932173 - 65054586 65054714 - 64762387 64762515 - 16381832;18285502 100302184 ABBA01038873;AC091582;AMYH02030613;NR_031674 MIRN1272;hsa-mir-1272 APPROVED ncrna HGNC:35339 PROVISIONAL 4109081 MIR1273C microRNA 1273c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 155908685 155908761 + 155174494 155174570 + 154853360 154853436 + 16381832;20224791;20300190 100422821 ABBA01025588;AL121952;AMYH02014781;NR_036100 APPROVED ncrna ENSG00000264814 HGNC:38173 PROVISIONAL 1344992 MIR127 microRNA 127 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81403135 81403231 + 101349316 101349412 + 100882979 100883075 + 6480464 12007417;15891114;16381832;17604727;18230126;19287466;19530237;19946636;20889907;23762330;24004856;24022470;24155205 406914 ABBA01048516;AL117190;AMYH02029863;NR_029696 5492035 MARC_10877-10878:993140164:1 MIRN127;miRNA127 APPROVED ncrna ENSG00000207608 HGNC:31509 611709 PROVISIONAL 2946927 MIR1271 microRNA 1271 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q35 172707413 172707498 - 175794949 175795034 + 176367946 176368031 + 16381832;16954537;18285502;19508715;22865282 100302203 ABBA01033501;AC138956;AMYH02012812;NR_031569 MIRN1271;hsa-mir-1271 APPROVED ncrna HGNC:35252 PROVISIONAL 5134010 MIR1268B microRNA 1268b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 78072627 78072676 + 80098828 80098877 + 16381832;20733160 100616121 ABBA01015411;AC087741;AMYH02034099;NG_029761;NR_039607 APPROVED ncrna HGNC:41581 VALIDATED 5133848 MIR1273G microRNA 1273g microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 53405986 53406085 + 52940314 52940413 + 16381832;21377523 100616145 ABBA01074749;AC099677;AMYH02001032;NR_039972 APPROVED ncrna HGNC:41684 PROVISIONAL 5133846 MIR1273F microRNA 1273f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 53394346 53394444 + 52928674 52928772 + 16381832;21377523 100616156 ABBA01074750;AC099677;AMYH02001032;NR_039971 APPROVED ncrna HGNC:41733 PROVISIONAL 3476303 MIR1274B microRNA 1274b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 19 19 55067955 55068021 - 58024375 58024441 - 16381832;18285502 100313903 AC003005;NR_031693 MIRN1274B miscrna HGNC:35358 PROVISIONAL 2312992 MIR1275 microRNA 1275 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 35522110 35522189 - 33967749 33967828 - 33999972 34000051 - 6480464 16381832;18285502;22005931;22736761 100302123 ABBA01038165;AL589941;AMYH02013505;NR_031681 MIRN1275;hsa-mir-1275 APPROVED ncrna ENSG00000221697 HGNC:35346 PROVISIONAL 8551312 MIR1273H microRNA 1273h microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 24203116 24203231 + 16381832;23226537 102466247 AC130448;AMYH02031716;NR_106996 hsa-mir-1273h ncrna HGNC:49973 PROVISIONAL 5133877 MIR1269B microRNA 1269b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 12820585 12820659 - 12917268 12917342 - 16381832;20733160 100616494 ABBA01055010;AC005274;AMYH02033012;NR_039747 APPROVED ncrna ENSG00000265503 HGNC:41787 PROVISIONAL 2312994 MIR1276 microRNA 1276 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q25.3 62713653 62713735 - 86313727 86313809 - 85770496 85770578 - 8554872 16381832;18285502 100302121 ABBA01052969;AC021739;AMYH02030971;NR_031682 MIRN1276;hsa-mir-1276 APPROVED ncrna ENSG00000221634 HGNC:35347 PROVISIONAL 2974677 MIR1273A microRNA 1273a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q22.2 97221716 97221818 - 101036210 101036312 - 100023982 100024084 - 16381832;18285502 100302165 ABBA01037561;AC021590;AMYH02018498;CH236949;NR_031675 1811194;1819366;1837848;1973816;1973818;1973820;1973822;1973824;1973826;1973828;1973830;1973832;1973834;1973836;1973838;2215288;2215290 ECD06595;ECD10750;ECD20094;REN57794;REN57795;REN57796;REN57797;REN57798;REN57799;REN57800;REN57801;REN57802;REN57803;REN57804;REN57805;stSG636633;stSG636634 MIR1273;MIRN1273;hsa-mir-1273;hsa-mir-1273a APPROVED ncrna HGNC:35340 PROVISIONAL 4108940 MIR1273D microRNA 1273d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 1 1 28087713 28116323 - 10287776 10287861 + 10227718 10227803 + 16381832;20300190;22139419 100422970 ABBA01035594;AL358013;AMYH02000264;NR_036176 1337925;1667643;2128197;2172452;5093728 D14S1055;G32889;G36242;RH66200;SHGC-34775 APPROVED ncrna ENSG00000264881 HGNC:38375 VALIDATED 2946926 MIR1277 microRNA 1277 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q24 117975184 117975261 + 117520357 117520434 + 118386394 118386471 + 16381832;18285502 100302214 ABBA01036807;AL391803;AMYH02040313;NR_031685 MIRN1277;hsa-mir-1277 APPROVED ncrna HGNC:35350 PROVISIONAL 2312960 MIR1278 microRNA 1278 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 166215249 166215329 + 193105633 193105713 + 193136503 193136583 + 16381832;18285502 100302163 ABBA01027636;AL390863;AMYH02002382;NR_031691 MIRN1278;hsa-mir-1278 APPROVED ncrna HGNC:35356 PROVISIONAL 2312907 MIR1281 microRNA 1281 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 25294880 25294933 + 41488517 41488570 + 41092513 41092566 + 16381832;18285502 100302237 ABBA01055620;AL080243;AMYH02038426;NR_031694 MIRN1281;hsa-mir-1281 APPROVED ncrna ENSG00000221160 HGNC:35359 PROVISIONAL 3497337 MIR1274A microRNA 1274a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 5 5 41364142 41364212 + 41475734 41475804 + 16381832;18285502 100313805 AC020940;NR_031676 MIRN1274A miscrna HGNC:35341 PROVISIONAL 2312947 MIR1279 microRNA 1279 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 69330773 69330834 - 69666937 69666998 - 69273157 69273218 - 16381832;18285502;23957009 100302182 ABBA01026542;AC020656;AMYH02026707;NR_031692 MIRN1279;hsa-mir-1279 APPROVED ncrna HGNC:35357 PROVISIONAL 2312892 MIR1283-1 microRNA 1283-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 51232825 51232911 + 54191735 54191821 + 53688481 53688567 + 16381832;16954537;18285502 100302265 ABBA01068202;AC011453;AMYH02036431;NR_031573 MIRN1283-1;hsa-mir-1283-1 APPROVED ncrna ENSG00000221421 HGNC:35255 PROVISIONAL 2312901 MIR1282 microRNA 1282 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 20975319 20975419 - 44085857 44085957 - 43793659 43793759 - 16381832;18285502 100302254 ABBA01039223;AC018512;AMYH02030324;NR_031695 1736810;1805904;1806380;1933712;1933714;1933716;1933718;1933720;1933722;1933724;1933726;1933728;1933730;1933732;2154049 D15S797;ECD03905;ECD04146;REN37689;REN37690;REN37691;REN37692;REN37693;REN37694;REN37695;REN37696;REN37697;REN37698;REN37699;RH41787 MIRN1282;hsa-mir-1282 APPROVED ncrna ENSG00000221792 HGNC:35360 PROVISIONAL 2312935 MIR1280 microRNA 1280 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 126510451 126510544 + 128081008 128081101 + 16381832;18285502 100302200 AL449210;NR_031703 MIRN1280;hsa-mir-1280 APPROVED miscrna HGNC:35368 PROVISIONAL 2312932 MIR1283-2 microRNA 1283-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 51302588 51302674 + 54261486 54261572 + 53758232 53758318 + 16381832;18285502 100302205 ABBA01068200;AC011453;AMYH02036431;NR_031696 MIRN1283-2;hsa-mir-1283-2 APPROVED ncrna ENSG00000221548 HGNC:35361 PROVISIONAL 2313000 MIR1284 microRNA 1284 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 71521736 71521855 - 71591121 71591240 - 71541970 71542089 - 6480464 16381832;18285502 100302112 ABBA01030936;AC097634;AMYH02007043;NG_028243;NR_031697 1848579 RH65612 MIRN1284;hsa-mir-1284 APPROVED ncrna ENSG00000221264 HGNC:35362 VALIDATED 1347002 MIR128-2 microRNA 128-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p22.3 35727938 35728021 + 35785968 35786051 + 35744476 35744559 + 6480464 12007417;12624257;16381832;17604727;18056805;19048628;19713529;19749093;20237425;22193543;23034410;23990020;24064186 406916 ABBA01024877;AC016943;AJ550404;AMYH02006541;NR_029824 1787784 SHGC-173166 MIR128B;MIRN128-2;MIRN128B;mir-128b microrna 128b APPROVED ncrna HGNC:31511 611769 PROVISIONAL 2946925 MIR1285-1 microRNA 1285-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 q21-q22 91833329 91833412 - 92204015 92204098 - 16381832;18285502;22294552 100302218 ABBA01045807;AC000120;AMYH02016261;NR_031616 2121847 SHGC-74178 MIRN1285-1;hsa-mir-1285-1 APPROVED ncrna HGNC:35277 VALIDATED 2946916 MIR1285-2 microRNA 1285-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 70330740 70330827 - 70480050 70480137 - 70252918 70253005 - 16381832;18285502 100302268 ABBA01075531;AC016700;AMYH02004038;NG_029967;NR_031617 MIRN1285-2;hsa-mir-1285-2 APPROVED ncrna ENSG00000221238 HGNC:35278 VALIDATED 2312984 MIR1287 microRNA 1287 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q24.2 93891626 93891715 - 100154975 100155064 - 98395218 98395307 - 6480464 16381832;18285502;19508715;21931564;23034410;24238754 100302133 ABBA01021778;AL139243;AMYH02023622;NR_031619 MIRN1287;hsa-mir-1287 APPROVED ncrna HGNC:35280 PROVISIONAL 2312996 MIR1286 microRNA 1286 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 4087343 4087420 - 20236657 20236734 - 20249134 20249211 - 16381832;18285502 100302118 ABBA01005393;AC007663;AMYH02038057;NR_031618 MIRN1286;hsa-mir-1286 APPROVED ncrna HGNC:35279 PROVISIONAL 2312983 MIR1289-2 microRNA 1289-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 128891349 128891459 - 132763288 132763398 - 133427596 133427706 - 16381832;18285502 100302134 ABBA01068778;AC010608;AMYH02012229;NR_031621 MIRN1289-2;hsa-mir-1289-2 APPROVED ncrna HGNC:35282 PROVISIONAL 1347371 MIR129-2 microRNA 129-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 p11.2 43749891 43749980 + 43602944 43603033 + 43581394 43581483 + 6480464 12007417;12554859;12624257;16381832;17604727;19887623;20331975;20404570;22536440;23251334;23307240;23402613;23406679;23580407;23677061;23744359;24055727 406918 ABBA01060777;AC068205;AJ550405;AMYH02024675;NR_029697 MIR-129b;MIRN129-2;mir-129-2 APPROVED ncrna ENSG00000199077 HGNC:31513 PROVISIONAL 2946915 MIR1290 microRNA 1290 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 17550881 17550958 - 19223565 19223642 - 18897071 18897148 - 6480464 16381832;18285502;22536353;23142292;23183268;23697990;24407235 100302276 ABBA01059749;AL080251;AMYH02000416;NR_031622 MIRN1290;hsa-mir-1290 APPROVED ncrna HGNC:35283 PROVISIONAL 2312919 MIR1291 microRNA 1291 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16381832;18285502;19763159;23598528;23686318;23889809 100302221 AC079951;NR_031623 MIRN1291;hsa-mir-1291 APPROVED ncrna HGNC:35284 PROVISIONAL 1343624 MIR128-1 microRNA 128-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q21.3 130133728 130133809 + 136422967 136423048 + 135665397 135665478 + 6480464 12007417;15325244;16381832;17604727;18056805;18381601;19048628;19713529;19955085;20054641;20889907;21228036;21358821;21596314;22614013;23034410;23482671;23492773;23835497;23958464;24046120;24064186;24316133;24415783 406915 ABBA01028165;AC016742;AMYH02004853;NR_029672 MIR128A;MIRN128-1;MIRN128A microrna 128a APPROVED ncrna HGNC:31510 611774 PROVISIONAL 2312981 MIR1292 microRNA 1292 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 2697886 2697951 + 2633423 2633488 + 2652777 2652842 + 16381832;18285502 100302138 ABBA01053795;AL049712;AMYH02036584;NG_032136;NR_031699 MIRN1292;hsa-mir-1292 APPROVED ncrna HGNC:35364 614155 VALIDATED 2312991 MIR1288 microRNA 1288 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 16088247 16088321 + 16185328 16185402 + 16282014 16282088 + 16381832;18285502;23034410;24009195 100302124 ABBA01035657;AC005971;AMYH02033073;NG_032651;NR_031698 MIRN1288;hsa-mir-1288 APPROVED ncrna HGNC:35363 VALIDATED 2312990 MIR1289-1 microRNA 1289-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 30790370 30790513 - 34041776 34041919 - 35453954 35454097 - 16381832;18285502 100302125 ABBA01019160;AL121586;AMYH02037000;FO393401;NR_031620 1811194;1819366;1837848;1973816;1973818;1973820;1973822;1973824;1973826;1973828;1973830;1973832;1973834;1973836;1973838 ECD06595;ECD10750;ECD20094;REN57794;REN57795;REN57796;REN57797;REN57798;REN57799;REN57800;REN57801;REN57802;REN57803;REN57804;REN57805 MIRN1289-1;hsa-mir-1289-1 APPROVED ncrna ENSG00000221763 HGNC:35281 PROVISIONAL 2312920 MIR1293 microRNA 1293 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 49423696 49423766 - 50627925 50627995 - 50234142 50234212 - 16381832;18285502 100302220 AC008147;AMYH02026454;NG_029859;NR_031625 MIRN1293;hsa-mir-1293 APPROVED ncrna HGNC:35286 VALIDATED 2312950 MIR1295A microRNA 1295a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 144180773 144180851 - 171070869 171070947 - 171101728 171101806 - 16381832;18285502 100302178 ABBA01027935;AL021026;AMYH02002132;NR_031627 MIR1295;MIRN1295;hsa-mir-1295;hsa-mir-1295a APPROVED ncrna ENSG00000221390 HGNC:35288 PROVISIONAL 2312969 MIR1296 microRNA 1296 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 58400228 58400319 - 65132717 65132808 - 63372957 63373048 - 6480464 16381832;16954537;18285502;19508715;19820697;22001757;23034410 100302150 ABBA01019500;AC022022;AMYH02023201;NR_031566 MIRN1296;hsa-mir-1296 APPROVED ncrna HGNC:35249 PROVISIONAL 1350855 MIR129-1 microRNA 129-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q32.1 122651214 122651285 + 127847925 127847996 + 128207872 128207943 + 6480464 12007417;12554859;16381832;17604727;19487295;21946411;21960261;22536440;23307240;23744359;24055727;24358111;24631532 406917 ABBA01057678;AC018662;AJ560751;AMYH02016714;CH236947;NR_029596 MIR-129b;MIRN129-1 APPROVED ncrna ENSG00000207705 HGNC:31512 PROVISIONAL 2312943 MIR1297 microRNA 1297 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 35872634 35872710 - 54886107 54886183 - 54311972 54312048 - 6480464 16381832;18285502;22995297;23071539 100302187 ABBA01037050;AL512509;AMYH02028065;NR_031628 2168357 G09931 MIRN1297;hsa-mir-1297 APPROVED ncrna HGNC:35289 PROVISIONAL 2312931 MIR1300 microRNA 1300 q21.3 100302206 MIRN1300;hsa-mir-1300 miscrna HGNC:35291 2974676 MIR1299 microRNA 1299 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 q12 69002239 69002321 - 40929010 40929092 - 16381832;18285502 100302167 ABBA01012985;AL353763;AMYH02020842;NR_031629 MIRN1299;hsa-mir-1299 APPROVED ncrna ENSG00000275377 HGNC:35290 PROVISIONAL 2312905 MIR1301 microRNA 1301 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 25391771 25391852 - 25551509 25551590 - 25328640 25328721 - 6480464 16381832;16954537;18285502;19144710;19508715;22159405;23034410 100302246 ABBA01045146;AC012074;AMYH02003441;NG_029465;NR_031570 MIRN1301;hsa-mir-1301 APPROVED ncrna HGNC:35253 VALIDATED 2946924 MIR1302-1 microRNA 1302-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q24 112759919 112760061 - 113132839 113132981 - 112695034 112695176 - 8554872 16381832;18285502 100302227 ABBA01019940;AC004104;AMYH02027228;NR_031631 2109683 POFUT1_9356 MIRN1302-1;hsa-mir-1302-1 APPROVED ncrna HGNC:35293 PROVISIONAL 4109070 MIR1302-10 microRNA 1302-10 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 19 102500662 102500799 - 71973 72110 + 16381832;18285502 100422834 AC008993;NR_036267 APPROVED ncrna ENSG00000275604 HGNC:38233 PROVISIONAL 2312889 MIR1302-2 microRNA 1302-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 30366 30503 + 30366 30503 + 16381832;18285502 100302278 AL627309;NR_036051 2169203;2169205 A005M06;G20325 MIRN1302-2;hsa-mir-1302-2 APPROVED ncrna ENSG00000274890 HGNC:35294 PROVISIONAL 2312948 MIR1294 microRNA 1294 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 149802350 149802491 + 153726666 153726807 + 154347106 154347247 + 16381832;18285502 100302181 ABBA01026241;AC008625;AMYH02012502;NR_031626 MIRN1294;hsa-mir-1294 APPROVED ncrna HGNC:35287 PROVISIONAL 2312987 MIR1302-3 microRNA 1302-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 q13 114340536 114340673 - 113582959 113583096 - 16381832;18285502 100302128 AC245097;AL078621;NR_031632 MIRN1302-3;hsa-mir-1302-3 APPROVED ncrna ENSG00000221055 HGNC:35295 PROVISIONAL 2312973 MIR1302-5 microRNA 1302-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 45935464 45935613 - 49231173 49231322 - 50614636 50614785 - 16381832;18285502 100302146 ABBA01052781;AL133230;AMYH02037237;NG_034040;NR_031634 MIRN1302-5;hsa-mir-1302-5 APPROVED ncrna HGNC:35297 PROVISIONAL 2312968 MIR1298 microRNA 1298 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 114384841 114384952 + 113949650 113949761 + 114715233 114715344 + 16381832;16954537;18285502;23034410 100302153 ABBA01053601;AC004822;AC233299;AMYH02040268;NR_031578 MIRN1298;hsa-mir-1298 APPROVED ncrna ENSG00000221710 HGNC:35258 PROVISIONAL 2974683 MIR1302-4 microRNA 1302-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 201895460 201895609 - 208133999 208134148 - 207269275 207269424 - 16381832;18285502 100302130 ABBA01062677;AC007879;AMYH02005641;NR_031633 MIRN1302-4;hsa-mir-1302-4 APPROVED ncrna ENSG00000221628 HGNC:35296 PROVISIONAL 2312979 MIR1302-6 microRNA 1302-6 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p21.1 18146538 18146627 - 18166843 18166932 - 18127220 18127309 - 16381832;18285502 100302140 ABBA01056649;AC005249;AMYH02015314;CH236948;NR_031635 MIRN1302-6;hsa-mir-1302-6 APPROVED ncrna ENSG00000221393 HGNC:35298 PROVISIONAL 2312917 MIR1302-8 microRNA 1302-8 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 70640194 70640321 - 100125836 100125963 - 97363554 97363681 - 16381832;18285502 100302223 ABBA01042933;AL512590;AMYH02021306;NR_031637 MIRN1302-8;hsa-mir-1302-8 APPROVED ncrna ENSG00000221269 HGNC:35300 PROVISIONAL 6483948 MIR1295B microRNA 1295b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 171070880 171070939 + 171101739 171101798 + 16381832;21911355 100847009 ABBA01027935;AL021026;AMYH02002132;NR_049854 ncrna HGNC:43524 PROVISIONAL 2946912 MIR1303 microRNA 1303 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 150142338 150142422 + 154065336 154065421 + 154685776 154685861 + 16381832;18285502;23817697;24647998 100302284 ABBA01026230;AC008379;AMYH02012508;NR_031638 MIRN1303;hsa-mir-1303 APPROVED ncrna ENSG00000221552 HGNC:35301 PROVISIONAL 4108988 MIR1302-11 microRNA 1302-11 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 9 71973 72110 + 30144 30281 + 16381832;18285502 100422919 AL928970;AMYH02019022;NR_036268 APPROVED ncrna ENSG00000278579 HGNC:38246 PROVISIONAL 2312972 MIR1302-7 microRNA 1302-7 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 139175562 139175633 - 142867603 142867674 - 141786242 141786313 - 16381832;18285502 100302147 ABBA01029384;AC144407;AC208147;AMYH02018912;NR_031636 2168357 G09931 MIRN1302-7;hsa-mir-1302-7 APPROVED ncrna HGNC:35299 PROVISIONAL 2946920 MIR1304 microRNA 1304 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 90758292 90758382 - 93466840 93466930 - 93733674 93733764 - 8554872 16381832;18285502 100302240 ABBA01040043;AMYH02025366;AP001273;NR_031639 MIRN1304;hsa-mir-1304 APPROVED ncrna ENSG00000221170 HGNC:35302 PROVISIONAL 2312891 MIR1305 microRNA 1305 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q34.3 180421966 180422051 + 183090446 183090531 + 182169293 182169378 + 6480464 16381832;18285502 100302270 ABBA01070488;AC108142;AMYH02010618;NR_031640 MIRN1305;hsa-mir-1305 APPROVED ncrna ENSG00000221227 HGNC:35303 PROVISIONAL 2312953 MIR1307 microRNA 1307 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 98893943 98894091 - 105154010 105154158 - 103394253 103394401 - 16381832;18285502;19144710;23974872 100302174 ABBA01063100;AL591408;AMYH02023724;NR_031707 MIRN1307;hsa-mir-1307 APPROVED ncrna ENSG00000221767 HGNC:35372 PROVISIONAL 2946919 MIR1308 microRNA 1308 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] p22.2-p22.1 16381832;18285502 100302266 NR_031704;Y10196 MIRN1308;hsa-mir-1308 miscrna HGNC:35369 4109072 MIR1302-9 microRNA 1302-9 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 15 30144 30281 + 101960459 101960596 - 16381832;18285502 100422831 AC140725;AMYH02031175;NR_036266 APPROVED ncrna ENSG00000275690 HGNC:38218 PROVISIONAL 2974674 MIR1321 microRNA 1321 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q21.2 85330369 85330447 + 85090785 85090863 + 85835780 85835858 + 16381832;18230126 100302171 ABBA01051719;AL022401;AMYH02039894;NR_031710 MIRN1321;hsa-mir-1321 APPROVED ncrna HGNC:35373 PROVISIONAL 2312958 MIR1322 microRNA 1322 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 9810916 9810986 - 10682883 10682953 - 10825373 10825443 - 16381832;18230126;20686565;22315007;24097068 100302166 ABBA01026888;AC011008;AMYH02017429;NR_031711 MIRN1322;hsa-mir-1322 APPROVED ncrna HGNC:35374 PROVISIONAL 2312925 MIR1324 microRNA 1324 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 76423649 76423744 + 75679914 75680009 + 75630763 75630858 + 16381832;18230126 100302212 ABBA01030989;AC108724;AC245159;NR_031714 MIRN1324;hsa-mir-1324 APPROVED ncrna ENSG00000221795 HGNC:35377 PROVISIONAL 2312937 MIR1306 microRNA 1306 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 3925633 3925717 + 20073581 20073665 + 20086058 20086142 + 16381832;18285502 100302197 ABBA01005395;AC006547;AMYH02038056;NR_031706 MIRN1306;hsa-mir-1306 APPROVED ncrna HGNC:35371 PROVISIONAL 7886999 MIR133A1HG MIR133A1 host gene (non-protein coding) q11.2 14702039;18055479 102723167 AC103987;AF086463;AK123912;BK006540;BX648566;HG509825;HG509826;HG509827;NG_033272;NR_110369 Hs.658808 MIR1-2HG ncrna HGNC:49594 VALIDATED 1352770 MIR133A1 microRNA 133a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 q11.2 16211722 16211809 - 19405659 19405746 - 21825698 21825785 - 6480464 12007417;16381832;16731620;17604727;20075508;20468068;20520763;20843712;21351259;21396852;21642241;21645416;22089643;22266319;22308266;22378351;22407299;22452920;22713968;22877943;23034410;23069713;23154637;23183523;23206218;23410519;23723074;23756231;23783274;23968734;23988448;24053180;24127040 406922 ABBA01022670;AC103987;AMYH02034385;NG_033272;NR_029675 1675551 RH94015 MIRN133A1 APPROVED ncrna ENSG00000276792 HGNC:31517 610254 PROVISIONAL 1343982 MIR133A2 microRNA 133a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 57872455 57872556 + 61162119 61162220 + 62564912 62565013 + 12007417;16381832;16731620;17604727;20075508;20468068;20889907;22089643;22766685;23034410;23535732 406923 ABBA01012316;AL449263;AMYH02037435;NR_029676 MIRN133A2 APPROVED ncrna HGNC:31518 610255 PROVISIONAL 1347329 MIR130A microRNA 130a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q12.1 54765156 54765244 + 57408671 57408759 + 57641198 57641286 + 6480464 12007417;15183728;16381832;16549775;17604727;17616659;20625274;20888330;21135128;21706050;21712254;22028478;22128589;22334710;22350415;22391564;22455133;22614869;22787204;22846564;23136161;23302469;23528537;23874686;24145606;24148619;24383925;24398327 406919 ABBA01021474;AMYH02024844;AP000662;NR_029673 MIRN130A;miRNA130A APPROVED ncrna ENSG00000208009 HGNC:31514 610175 PROVISIONAL 2312900 MIR1323 microRNA 1323 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51216313 51216385 + 54175222 54175294 + 53671968 53672040 + 16381832;16954537;18230126 100302255 ABBA01068202;AC011453;AMYH02036431;NR_031568 MIRN1323;hsa-mir-1323 APPROVED ncrna ENSG00000221017 HGNC:35251 PROVISIONAL 1346883 MIR132 microRNA 132 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p13.3 1969847 1969947 - 1953202 1953302 - 2049908 2050008 - 6480464 12007417;16381832;17553428;17604727;17616659;18577589;18759964;19819989;20167074;20418869;20676106;21329664;21665894;21807765;21853268;22077060;22310291;22315408;23264652;23357732;23376496;23399321;23585551;23598815;23748239;23801049;24449507;24621117;24661879 406921 ABBA01054688;AC090617;AMYH02032761;NR_029674 MIRN132;miRNA132 APPROVED ncrna ENSG00000267200 HGNC:31516 610016 PROVISIONAL 1344051 MIR130B microRNA 130b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 5825133 5825214 + 22007593 22007674 + 21653304 21653385 + 6480464 12624257;12919684;15634332;15800047;16381832;17573714;17604727;17616659;18974142;21537871;21761344;22005523;22847613;23144465;23392577;24027433;24040078;24204200 406920 ABBA01055056;AJ550406;AMYH02038120;AP000553;NR_029845 MIRN130B;mir-130b APPROVED ncrna ENSG00000207751 HGNC:31515 613682 PROVISIONAL 1352188 MIR133B microRNA 133b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 p12.2 53674858 53674976 + 52013721 52013839 + 52148923 52149041 + 6480464 12624257;16381832;17604727;17761882;19654003;20029200;20075508;20468068;20505319;21351259;21573504;21637854;21645416;22179829;22308266;22407299;22532850;22713968;22883469;23196799;23206218;23229283;23296701;23936094;24330809;24391788;24594999;24613927 442890 ABBA01050561;AJ550407;AL391221;AMYH02013730;NR_029903 MIRN133B;miRNA133B;mir-133b APPROVED ncrna ENSG00000199080 HGNC:31759 610946 PROVISIONAL 1347046 MIR134 microRNA 134 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81577085 81577157 + 101521024 101521096 + 101054687 101054759 + 6480464 12007417;15183728;15891114;16381832;16421561;17604727;20546789;21943159;22259016;22683779;23010597;23034410;23467648;23824713;24135056 406924 ABBA01048514;AL132709;AMYH02029867;NR_029698 MIRN134 APPROVED ncrna ENSG00000207993 HGNC:31519 610164 PROVISIONAL 1349910 MIR136 microRNA 136 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81404861 81404942 + 101351039 101351120 + 100884702 100884783 + 6480464 12007417;15183728;15891114;16381832;17604727;22967897;23959478 406927 ABBA01048516;AL117190;AMYH02029863;NR_029699 MIRN136;miRNA136 APPROVED ncrna ENSG00000207942 HGNC:31522 611710 PROVISIONAL 1349548 MIR135B microRNA 135b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q32.1 178552602 178552698 - 205417430 205417526 - 205448302 205448398 - 6480464 12624257;14691248;15634332;16381832;17604727;17616659;19795981;22042699;22469014;23143558;23568010;23715500;24129066;24223191;24735923;24802670 442891 ABBA01027415;AC098936;AMYH02002547;NR_029893 MIRN135B APPROVED ncrna ENSG00000199059 HGNC:31760 PROVISIONAL 5686952 MIR137HG MIR137 host gene (non-protein coding) 1 1 1 p21.3 96762406 96764708 - 98453556 98515249 - 97988000 98049693 - 14702039;16344560;21926974;23453885;24324551 400765 Q8NAG1 ABBA01045469;ABBA01045470;AC104453;AK092728;AK094607;AMYH02001539;BX005019;DA791600;HG492308;NR_046105 BAC03958 Hs.451802 FLJ35409 ncrna ENSG00000225206 HGNC:42871 16937 VALIDATED 1348256 MIR135A2 microRNA 135a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q23.1 97623232 97623331 + 97957590 97957689 + 97563812 97563911 + 6480464 12007417;12624257;15183728;16381832;17604727;22747683 406926 ABBA01053300;AC018659;AJ550408;AMYH02027029;NR_029678 MIRN135-2;MIRN135A2 APPROVED ncrna ENSG00000207586 HGNC:31521 PROVISIONAL 1345919 MIR137 microRNA 137 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p21.3 96765320 96765421 - 98511626 98511727 - 98046070 98046171 - 6480464 12007417;16381832;17604727;18316599;18695884;20197299;20600988;21051724;21221794;21278922;21425146;21926974;21943223;21994399;22003227;22182936;22406049;22446413;22703336;22722712;22733126;22850735;22895557;22982201;23121285;23151846;23178712;23178914;23201162;23252729;23275153;23400681;23453885;23459466;23640964;23683160;23714687;23786914;23910899;23934188;23965969;23974872;24001901;24132022;24144591;24210531;24275578;24412084;24500708 406928 ABBA01045470;AC104453;AMYH02001539;NR_029679 MIRN137;miR-137 APPROVED ncrna ENSG00000277990 HGNC:31523 614304 PROVISIONAL 1349234 MIR135A1 microRNA 135a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.1 52307558 52307647 - 52328235 52328324 - 52294219 52294308 - 12007417;15183728;16381832;17604727;18632633;19666866;19944075;21888875;22139076;23017832;23594704;23974872 406925 AC092045;AMYH02006800;NR_029677 MIRN135-1;MIRN135A1 APPROVED ncrna ENSG00000207926 HGNC:31520 PROVISIONAL 1345345 MIR141 microRNA 141 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 p13.31 8694279 8694373 + 7073260 7073354 + 6964097 6964191 + 6480464 12007417;14573789;16381832;17604727;17616659;18381893;19363643;19830559;20053927;20084174;20514023;20967756;21238947;21289630;21445232;21723797;21726338;21827717;22101765;22314666;22384255;22479552;23045278;23377530;23554918;23559187;23635949;23663545;24000293;24013097;24091627;24101728;24143167;24163379;24195082;24285464;24288670;24334875;24616104;24937190 406933 ABBA01017670;AMYH02025958;NR_029682;U47924 MIRN141 APPROVED ncrna ENSG00000207708 HGNC:31528 612093 PROVISIONAL 1350565 MIR138-2 microRNA 138-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 q13 41391689 41391772 + 56892430 56892513 + 56858518 56858601 + 12007417;16381832;17604727;17616659;19540661;21079996;21168126;23208504;23343715;24211202;24486907 406930 ABBA01025251;AC012181;AMYH02032094;NR_029680 MIRN138-2 APPROVED ncrna HGNC:31525 613395 PROVISIONAL 1354224 MIR138-1 microRNA 138-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.32 44093960 44094058 + 44155704 44155802 + 44114212 44114310 + 6480464 16381832;17604727;17616659;19540661;21079996;21444814;21693595;21875287;22739938;22766839;22853952;22926558;23300839;23319823;23343715;23562653;23707559;24171926;24211202;24486907;24582749;24691972;24792185 406929 AC006058;AMYH02006644;NR_029700 2127529 SHGC-60181 MIRN138-1 APPROVED ncrna ENSG00000207954 HGNC:31524 613394 PROVISIONAL 1354349 MIR139 microRNA 139 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q13.4 69630648 69630715 - 72326107 72326174 - 72615063 72615130 - 6480464 12007417;16381832;17604727;20167074;20889907;20951699;21471143;21925125;22452920;22580051;22642900;23001723;23124769;23410519;24158791;24190507;24204738;24318902 406931 ABBA01017535;AMYH02025078;AP003065;NR_029603 MIR139-3p;MIRN139 APPROVED ncrna HGNC:31526 615017 PROVISIONAL 5134042 MIR1343 microRNA 1343 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 34963384 34963467 + 34941837 34941920 + 16381832;21199797;23034410 100616437 ABBA01060863;AL138810;AMYH02024591;NR_039836 APPROVED ncrna HGNC:41902 PROVISIONAL 1353953 MIR140 microRNA 140 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 q22.1 54482297 54482396 + 69966984 69967083 + 69933081 69933180 + 6480464 12007417;15800047;16381832;16828749;17604727;17616659;19714579;19734943;19948051;19950226;20167074;20358594;21720209;21798241;22012839;22052544;22273691;22445758;22452920;22547066;22773691;22898998;23060440;23401231;23529404;23752191;23754477;24039995;24063364;24257415;24530397;24875904;24971538 406932 ABBA01025546;AC026468;AMYH02032292;NR_029681 MIRN140;miRNA140 APPROVED ncrna HGNC:31527 611894 PROVISIONAL 1350288 MIR144 microRNA 144 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q11.2 24047975 24048060 - 27188551 27188636 - 28861533 28861618 - 6480464;8554872 12007417;16381832;17604727;18303114;20451302;20709907;21367459;21829658;21863218;22955854;22983984;23125220;23226399;23519695;23519696;23546882;23815091;24195082;24453045 406936 ABBA01015038;AC024267;AMYH02033231;NR_029685 MIRN144 APPROVED ncrna HGNC:31531 612070 PROVISIONAL 1342882 MIR142 microRNA 142 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q22 52870375 52870461 - 56408593 56408679 - 58331232 58331318 - 6480464 12007417;14573789;15325244;16381832;17604727;17972953;20856265;21347785;21482222;21678057;21882196;21979877;22367739;22493297;22549634;22958478;23209550;23229013;23254460;23342264;23410519;23410826;23577151;23581416;23602969;23619912;23650616;23760605;23786772;23843459;24057258;24227773;24236112;24338464;24361879;24558198 406934 ABBA01041333;AC004687;AJ535836;AMYH02033687;NR_029683 MIRN142 APPROVED ncrna HGNC:31529 615657 PROVISIONAL 2312998 MIR1468 microRNA 1468 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 63352733 63352818 - 63005882 63005967 - 63786002 63786087 - 6480464 16381832;16954537;18402656;20640596;20845080;23034410 100302115 ABBA01066823;AL451106;AMYH02039596;NR_031567 1736810;1805904;1806380;1933712;1933714;1933716;1933718;1933720;1933722;1933724;1933726;1933728;1933730;1933732;2154049;2209092 D15S797;ECD03905;ECD04146;REN37689;REN37690;REN37691;REN37692;REN37693;REN37694;REN37695;REN37696;REN37697;REN37698;REN37699;RH41787;stSG627952 MIRN1468;hsa-mir-1468 APPROVED ncrna ENSG00000222532 HGNC:35250 PROVISIONAL 2312897 MIR1469 microRNA 1469 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q26.2 73292691 73292737 + 96876490 96876536 + 96333261 96333307 + 6480464 16381832;18402656 100302258 ABBA01032422;AC016251;AMYH02031116;NR_031715 MIRN1469;hsa-mir-1469 APPROVED ncrna HGNC:35378 PROVISIONAL 5490463 MIR143HG MIR143 host gene (non-protein coding) INTERACTS WITH dasatinib (anhydrous) 5 5 5 q32 144868419 144894373 + 148786440 148812399 + 149406845 149432836 + 6480464 14702039;19730444;21159816 728264 ABBA01026306;AC131025;AI674543;AK093957;AK124798;AK126481;AK126541;AL137734;AMYH02012443;BX640700;CR933654;GQ292874;HG498605;HG498606;HG498607;HG498609;HG498610;HG498613;HG498615;HQ848934;HQ848935;LK939104;NR_105059;NR_105060 Hs.519666;Hs.744892 1664601;1690572;1726775;1765135;1776055;2161754;5014051;5020740;5024413;5037552;5109281 D1S1425;D8S2278;D8S2279;G16889;G62777;L17809;L17877;RH17475;RH91919;SGC32896;SHGC-148655 DKFZp586C0721;DKFZp781L018;FLJ36638;RP11-394O4.2;RP11-394O4.5 ncrna HGNC:42872 VALIDATED 1346221 MIR143 microRNA 143 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q32 144890461 144890566 + 148808481 148808586 + 149428918 149429023 + 6480464 12007417;14573789;15504739;16381832;17604727;17616659;19137007;19190970;19242066;19439999;19472311;19638978;19855844;20094072;20158877;20167074;20363096;20525177;20620599;20809117;21159816;21197560;21218087;21453382;21518477;21550168;21557394;21647377;21673106;21685392;21693658;21701675;21706045;21711110;21712382;21790228;21943005;22093444;22108519;22160209;22194833;22327366;22330136;22354042;22457808;22469988;22533346;22549179;22593586;22691140;22751122;22804917;22836856;22876303;22948942;23070684;23104321;23128394;23269581;23276710;23297865;23321517;23339192;23376635;23397547;23476055;23574723;23628392;23732700;23804075;23811549;23812417;23866094;23904792;23932921;23965966;23973710;23999936;24033605;24065523;24070896;24105952;24218337;24283360;24284362;24286416;24333576;24577510;24616567 406935 ABBA01026306;AC131025;AJ535834;AMYH02012443;NR_029684 MIRN143 APPROVED ncrna ENSG00000208035 HGNC:31530 612117 PROVISIONAL 2312989 MIR1471 microRNA 1471 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 226520187 226520243 - 232756952 232757008 - 231892242 231892298 - 16381832;18402656 100302126 ABBA01002031;AC013435;AMYH02005978;NR_031717 MIRN1471;hsa-mir-1471 APPROVED ncrna ENSG00000222246 HGNC:35380 PROVISIONAL 2312988 MIR1470 microRNA 1470 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.12 15456006 15456066 + 15560359 15560419 + 15449548 15449608 + 8554872 16381832;18402656 100302127 ABBA01051114;AC011492;AMYH02035658;NR_031716 MIRN1470;hsa-mir-1470 APPROVED ncrna ENSG00000269782 HGNC:35379 PROVISIONAL 1353686 MIR145 microRNA 145 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q32 144892189 144892276 + 148810209 148810296 + 149430646 149430733 + 6480464 12007417;14573789;15978578;16381832;17604727;17827156;19242066;19289845;19360360;19391107;19409607;19439999;19493678;19730444;19843336;19898489;19915607;19996288;20094072;20098684;20130213;20160723;20230625;20370992;20382729;20525177;20588276;20687965;20717966;20809117;20818426;20889907;21092188;21111732;21159816;21218087;21258769;21289483;21349819;21351259;21365617;21453382;21479367;21496429;21557394;21647377;21673106;21685392;21701675;21712382;21836381;21873545;21900452;21943005;21945499;22093444;22102413;22108519;22200372;22287315;22327366;22330136;22370644;22370881;22378186;22389628;22431718;22452920;22457808;22472569;22592534;22722712;22751122;22752669;22766504;22835608;22864280;22869051;22948942;23028672;23063121;23076445;23104321;23108408;23118427;23128394;23166305;23173553;23199328;23201159;23222716;23297865;23312222;23334650;23339192;23339529;23390502;23397547;23404256;23404342;23436935;23441135;23457217;23462458;23468503;23476055;23480797;23483985;23489501;23499891;23499894;23548968;23583047;23615404;23628392;23632450;23703249;23714355;23814265;23875242;23932921;24026105;24033605;24043548;24135019;24157791;24223694;24284362;24356567;24375455;24384875;24507892;24510775;24548410;24577510;24589415;24606746;24613927;24631504;24642628;24690171;24745613;24791633;24846918;24873879 406937 ABBA01026306;AC131025;AJ535835;AMYH02012443;NR_029686 MIRN145;miR-145;miRNA145 APPROVED ncrna ENSG00000276365 HGNC:31532 611795 PROVISIONAL 1344673 MIR146A microRNA 146a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q34 155944832 155944930 + 159912359 159912457 + 160485352 160485450 + 6480464 12007417;15800047;16365291;16381832;16885212;17604727;17622355;18057241;18383392;18390754;18474871;18568019;18660546;18711148;18759964;18801740;19014482;19048628;19138993;19164563;19167348;19190326;19333922;19333945;19411858;19514064;19540598;19840932;19847796;19881472;19898489;19902466;19944095;19954362;19965651;20011700;20017139;20053980;20110513;20124483;20181935;20188071;20195282;20214679;20375304;20384865;20417706;20451497;20488170;20500689;20525168;20542134;20549817;20577838;20585341;20640596;20647767;20653068;20680470;20721625;20732906;20810544;20842445;20848167;20934487;20937840;20952466;21073609;21178010;21236257;21249428;21263019;21329689;21345130;21347720;21354921;21469088;21472990;21511256;21529448;21529907;21555486;21591024;21610143;21624236;21632853;21637771;21640790;21738483;21744077;21773870;21807077;21810022;21861697;21885871;21887328;21902575;21947843;21947847;21968601;21978540;21987229;22006119;22020746;22033216;22043907;22048026;22048267;22139425;22161766;22161865;22182931;22218224;22295894;22311263;22348245;22355253;22363684;22453030;22455393;22480686;22535496;22578600;22593544;22614176;22692818;22692992;22699322;22708826;22711166;22711332;22719192;22761848;22768213;22823586;22843060;22872486;22876745;22882355;22893469;22927641;22952151;22957494;22992343;23001871;23007982;23018031;23020128;23027628;23028621;23138379;23202363;23222547;23262343;23267167;23268366;23292505;23295264;23306950;23343627;23345523;23418555;23435376;23451063;23457043;23509825;23528241;23534761;23545308;23554878;23555954;23591815;23592910;23613822;23619365;23638011;23647548;23671131;23673476;23685241;23719600;23727324;23731641;23733368;23783433;23794009;23832538;23888320;23890093;23898084;23898484;23962497;23982677;24014244;24023848;24036458;24038414;24120842;24136745;24144839;24172202;24247819;24301908;24302991;24327568;24379078;24425875;24442429;24448024;24561623;24615520;24670381;24726732;24740563;24839931 406938 ABBA01044218;AC091842;AMYH02012605;NR_029701 MIRN146;MIRN146A;miR-146a;miRNA146A microrna 146 APPROVED ncrna ENSG00000277727 HGNC:31533 610566 PROVISIONAL 1347864 MIR147A microRNA 147a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q33.2 93655601 93655672 - 123007257 123007328 - 120244979 120245050 - 6480464 12007417;16381832;20339536;22333974 406939 ABBA01016252;AL592549;AMYH02021566;NR_029604 MIR147;MIRN147;hsa-mir-147a APPROVED ncrna ENSG00000207814 HGNC:31534 PROVISIONAL 1345628 MIR151A microRNA 151a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 137911117 137911206 - 141742663 141742752 - 140732564 140732653 - 6480464 14691248;15634332;15978578;16381832;17599088;17604727;17616659;20305651;21456068;22489664;22909203;23416081;23458262 442893 ABBA01013677;AC105235;AMYH02018891;NG_029467;NR_029892 MIR151;MIRN151;hsa-mir-151;hsa-mir-151a APPROVED ncrna HGNC:31762 VALIDATED 1342659 MIR149 microRNA 149 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q37.3 235067336 235067424 + 241395418 241395506 + 240456001 240456089 + 6480464 12007417;16381832;17604727;17616659;19514064;19881472;19950226;20549817;20623644;21671485;21873783;21896753;21902575;21976437;21978395;22161766;22583825;22647417;22714913;22821729;22882355;23001871;23115050;23144691;23202363;23272122;23298478;23470291;23639576;23725137;23873935;24040059;24299952;24312386;24379078 406941 ABBA01048871;AC110619;AMYH02006098;NR_029702 1781316 G31176 MIRN149 APPROVED ncrna HGNC:31536 615209 PROVISIONAL 1603775 MIR146B microRNA 146b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q24.32 97937172 97937244 + 104196269 104196341 + 102436512 102436584 + 6480464 15965474;16381832;16885212;17604727;18504431;19190326;19265686;19584273;20406109;20874002;21472990;21537871;21789255;21823013;21874046;22393448;22728346;23264400;23535732;23592910;23733368;23796692;23798430;24133439;24163379;24301304;24473196;24589738;24931464 574447 ABBA01063157;AL121928;AMYH02023696;AY882276;NR_030169 MIRN146B;miRNA146B APPROVED ncrna HGNC:32079 610567 PROVISIONAL 1351245 MIR148B microRNA 148b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q13.13 54382994 54383092 + 54731000 54731098 + 54337216 54337314 + 6480464;8554872 12624257;14691248;15634332;16381832;17604727;17616659;21205300;22020560;22344713;22362909;22843616;22927033;23171948;23233531;23716670 442892 ABBA01008370;AC078778;AJ550409;AMYH02026535;NR_029894 MIRN148B;mir-148b APPROVED ncrna HGNC:31761 613787 PROVISIONAL 1349588 MIR152 microRNA 152 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q21.32 42567346 42567432 - 46114527 46114613 - 48037161 48037247 - 6480464 12007417;16381832;17604727;17616659;20158877;20574809;20578129;21327300;21868754;21971665;22095477;22295098;22438923;22909061;22935141;23034410;23125218;23238588;23318422;23460133;23716670;23867826;24416131;24780186;24813629 406943 ABBA01041151;AC004477;AMYH02033532;NR_029687 MIRN152 APPROVED ncrna HGNC:31538 613788 PROVISIONAL 1342949 MIR150 microRNA 150 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.33 46873383 46873466 - 50004042 50004125 - 49500785 49500868 - 6480464 12007417;16381832;17438277;17604727;18667440;18682393;19615744;19823581;20067763;20075508;20218812;20460641;20603081;21502955;21551231;21761366;21983127;22025269;22048026;22048267;22052060;22595456;23013135;23079661;23159943;23211718;23220912;23228962;23326587;23372743;23521217;23547171;23554878;23670238;23673476;23675407;23723424;23747308;23765923;23766514;23955084;24086639;24205408;24286416;24312495;24385540;24456795;24462065;24532468;24613688;24768587;24787006 406942 ABBA01032923;AC010619;AMYH02036319;NR_029703 MIRN150;miRNA150 APPROVED ncrna HGNC:31537 611114 PROVISIONAL 2312980 MIR1537 microRNA 1537 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 209259618 209259678 - 236016300 236016360 - 235853000 235853060 - 16381832;18524951;20300190;23226537 100302139 ABBA01033145;AL133286;AMYH02002952;NR_031718 MIRN1537;hsa-mir-1537 APPROVED ncrna ENSG00000222831 HGNC:35381 PROVISIONAL 5133856 MIR151B microRNA 151b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 100575756 100575851 - 100109419 100109514 - 16381832;16954537;20733160 100616247 ABBA01048541;AL133523;AMYH02029847;NR_039601 APPROVED ncrna ENSG00000265154 HGNC:41588 PROVISIONAL 2312995 MIR1538 microRNA 1538 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 54114285 54114345 - 69599711 69599771 - 69565808 69565868 - 16381832;18524951 100302119 ABBA01025531;AC009032;AMYH02032284;NG_029600;NR_031719 2172676 SHGC-17239 MIRN1538;hsa-mir-1538 APPROVED ncrna ENSG00000223109 HGNC:35382 VALIDATED 2312898 MIR1539 microRNA 1539 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 43869098 43869147 + 47013743 47013792 + 49487373 49487422 + 16381832;18524951 100302257 ABBA01018653;AC100778;AMYH02034695;NR_031720 MIRN1539;hsa-mir-1539 APPROVED ncrna ENSG00000278544 HGNC:35383 PROVISIONAL 1352876 MIR153-2 microRNA 153-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q36.3 151793425 151793511 - 157367028 157367114 - 157574336 157574422 - 12007417;16381832;17604727;20889907;21764280;23034410;23188671 406945 ABBA01032346;AC006372;AMYH02017160;CH236954;NG_029966;NR_029689 2149402 GDB:1317804 MIRN153-2 APPROVED ncrna HGNC:31540 VALIDATED 1350378 MIR155HG MIR155 host gene (non-protein coding) MicroRNAs (miRNAs), such as miRNA155, are endogenous noncoding RNAs of about 22 nucleotides that regulate mRNAs by targeting them for cleavage or translational repression. The primary miRNA transcript containing the mature miRNA155 sequence, pri-miRNA155, is also referred to as BIC (Kluiver et al., 2005 [PubMed 16041695]).[supplied by OMIM, Mar 2008] 21 21 21 12117862 12130891 + 26934457 26947480 + 25562145 25575168 + 6480464 11675008;12426003;12661002;14695998;15738415;16041695;16252262;17668390;18048365;18191785;18354490;18383392;18676680;19170196;19625176;19692168;21296997;23246696 114614 AA810953;ABBA01057209;AF402776;AL109616;AMYH02037647;AP000223;AP001693;BG231961;CT000653;EU375836;HG511670;NR_001458 Hs.697120 1690318;2186436 RH93614;SHGC-87512 BIC;MIRHG2;NCRNA00172 APPROVED ncrna ENSG00000234883 HGNC:35460 VALIDATED 5133960 MIR1587 microRNA 1587 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X p11.4 39696815 39696867 + 39837561 39837613 + 16381832;20733160 100616251 ABBA01046903;AL592164;AMYH02039181;NR_039763 APPROVED ncrna ENSG00000263972 HGNC:41596 PROVISIONAL 1347166 MIR153-1 microRNA 153-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q35 213928676 213928765 - 220158833 220158922 - 219294111 219294200 - 8554872 12007417;16381832;17604727;21764280;22722712;23060044;23188671;23397238;23950211 406944 ABBA01023843;AC114803;AMYH02005820;NG_029546;NR_029688 1744399 GDB:452693 MIRN153-1 APPROVED ncrna HGNC:31539 VALIDATED 1346027 MIR148A microRNA 148a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p15.2 25978394 25978461 - 25989539 25989606 - 25949919 25949986 - 6480464 12007417;15978578;16381832;17604727;20406806;20628822;20644734;20820187;21081659;21168126;21327300;21455217;21499264;21552422;21971665;21994419;22167392;22438923;22496917;22890324;22935141;23056401;23225151;23321675;23383211;23389829;23527115;23532995;23549984;23583978;23670799;23843100;23869555;23873106;23965969;23975374;24013226;24084367;24097068;24203893;24248364;24269634;24283384;24425048;24515776 406940 ABBA01056738;AC010719;AMYH02015387;CH236948;NR_029597 MIRN148;MIRN148A;hsa-mir-148 APPROVED ncrna HGNC:31535 613786 PROVISIONAL 2299183 MIR155 microRNA 155 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 21 q21.3 12129700 12129764 + 26946292 26946356 + 25573980 25574044 + 6480464 12007417;14695998;15325244;15634332;15738415;16041695;16252262;16381832;17604727;17616659;17668390;17989717;18048365;18191785;18354490;18383392;18753206;18759964;18926796;18940871;19106647;19193853;19234151;19268705;19289845;19386588;19446359;19538740;19551852;19578755;19641183;19701459;19777054;19887047;19890474;19954362;20041145;20133617;20201617;20209161;20219467;20332664;20351277;20354188;20370992;20371610;20388420;20427544;20452491;20550618;20673989;20844043;20889907;20947507;20950585;20952466;20966899;21036908;21097505;21176560;21195055;21219656;21234519;21282106;21296997;21304824;21383199;21385848;21412018;21466664;21515911;21541331;21690378;21703910;21706480;21750860;21756067;21762537;21762626;21802214;21806946;21807897;21813606;21831295;21863027;21982894;21987229;21989846;22006119;22037148;22048267;22071603;22096245;22105810;22113482;22122052;22139425;22139839;22182977;22245916;22249254;22268450;22307849;22348515;22350414;22354042;22378844;22426647;22445295;22470130;22508041;22511990;22541087;22558995;22562822;22578600;22609116;22652783;22681934;22715471;22728346;22736789;22797073;22815348;22823535;22891887;22919664;22924844;22942255;22957494;22982040;22996741;23028330;23047434;23050614;23065188;23071695;23108656;23166327;23166356;23174997;23185331;23209550;23246696;23250986;23264052;23288924;23302469;23312020;23316018;23334650;23353819;23428672;23437123;23454155;23462458;23509825;23523916;23524258;23568502;23580661;23588589;23601686;23616185;23616573;23650424;23660842;23676217;23693020;23711069;23750211;23774697;23796566;23817566;23818336;23821659;23827206;23949802;23955085;23967196;23970205;24007214;24033365;24037889;24059932;24080728;24120842;24151514;24152184;24177167;24227772;24252850;24262949;24283299;24311783;24332164;24362029;24376632;24387321;24391808;24403554;24522920;24571026;24604078;24616504;24657879;24856900;24909288 406947 ABBA01057209;AMYH02037647;AP000223;NR_030784 MIRN155;miRNA155 APPROVED ncrna ENSG00000275402 HGNC:31542 609337 PROVISIONAL 1343557 MIR154 microRNA 154 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81582153 81582236 + 101526092 101526175 + 101059755 101059838 + 6480464 12007417;15183728;15891114;16381832;17604727;20167074;20889907;22456620;23043088;23591597;24242044 406946 ABBA01048514;AL132709;AMYH02029867;NR_029704 MIRN154 APPROVED ncrna ENSG00000207978 HGNC:31541 PROVISIONAL 2290243 MIR147B microRNA 147b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q21.1 22616667 22616746 + 45725248 45725327 + 45433050 45433129 + 6480464 16381832;17604727 100126311 ABBA01039183;AC025580;AMYH02030357;NR_030599 1651349 RH106 MIRN147B APPROVED ncrna ENSG00000211519 HGNC:33655 PROVISIONAL 1604139 MIR17HG miR-17-92 cluster host gene (non-protein coding) This gene is the host gene for the MIR17-92 cluster, a group of at least six microRNAs (miRNAs) that may be involved in cell survival, proliferation, differentiation, and angiogenesis. Amplification of this gene has been found in several lymphomas and solid tumors. Two non-protein coding transcript variants have been found for this host gene, but only the longest is a polycistronic transcript containing the MIR17-92 cluster. [provided by RefSeq, May 2012] 13 13 13 q31.3 72847045 72853800 + 92000074 92006829 + 91347820 91354575 + 6480464;8699517 11991713;12477932;14702039;15126345;15944707;15944709;16077067;16266980;17210683;19597473;19696742;20008935;20167088;20300951;20305691;21664042;21796614;21892160;21897363;22022595;22024720;22116552;22343732;22383169;22451425;22665768;22731656;22969266;22995834;23288173;23438603;23532756;23550645;23551855;23759744;23825564;23858035;23921550;24068957;24145352;24169826;24280866;24305714;24645838 407975 Q75NE6 AB176707;ABBA01027235;ABBA01027236;AF339828;AK024240;AL138714;AL162375;AMYH02028470;BC040320;BC109081;BC109082;NG_032702;NR_027349;NR_027350 Hs.24115;Hs.652877 1668059;1721341;2122824 G59670;RH45064;RH48552 C13orf25;FGLDS2;FLJ14178;LINC00048;MGC126270;MIHG1;MIRH1;MIRHG1;NCRNA00048;miR-17-92 APPROVED ncrna ENSG00000215417 HGNC:23564 12617 609415;614326 REVIEWED 1346096 MIR16-1 microRNA 16-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 q14.2 31677674 31677762 - 50623109 50623197 - 50048973 50049061 - 6480464 11679670;11914277;12434020;12624257;14573789;15183728;15325244;16166262;16381832;17604727;17616659;18362358;18449891;18483394;18708755;18759964;18854308;19144909;19148136;19250063;19347735;19401561;19498445;19779621;19865490;19883312;20060366;20621999;20626035;20647767;20876285;21130495;21205891;21336967;21354921;21400525;21454377;21472816;21532615;21575235;21602527;21778999;21885851;22002311;22033921;22049078;22049153;22096249;22133358;22139073;22249219;22292036;22564678;22574716;22583478;22677435;22684875;22781767;22922827;22940131;22959509;23104180;23175429;23226427;23233752;23260326;23325924;23380758;23507142;23613938;23649629;23686310;23783433;23907579;23954293;23991964;24026226;24086143;24089558;24148817;24285725;24391925;24392455;24418124;24600978 406950 ABBA01051034;AF480551;AJ421734;AL137060;AMYH02028020;NR_029486 5021944 Mirn16-1 MIRN16-1;miRNA16-1 APPROVED ncrna ENSG00000208006 HGNC:31545 609704 PROVISIONAL 1354361 MIR15A microRNA 15a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 q14.2 31677820 31677902 - 50623255 50623337 - 50049119 50049201 - 6480464 11679670;12434020;12554860;15325244;16166262;16381832;17604727;17616659;18362358;18449891;18708755;18818396;19148136;19347735;19401561;19498445;19549910;19779621;19883312;19903841;20031211;20060366;20621999;20876285;20884628;21205891;21454377;21472816;21532615;21534877;21575235;21712053;21778430;22002311;22033921;22049078;22096249;22133358;22139073;22249219;22463747;22564678;22574716;22684875;22781767;22922827;22959509;23104180;23176145;23233752;23649629;23867820;23900351;23963825;24089558;24252251;24285725;24392455;24397367 406948 ABBA01051034;AJ421733;AL137060;AMYH02028020;NR_029485 5021944 Mirn16-1 MIRN15A;hsa-mir-15a;miRNA15A APPROVED ncrna ENSG00000275952 HGNC:31543 609703 PROVISIONAL 7245789 MIR181A1HG MIR181A1 host gene (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 1 1 1 q32.1 171990657 171990905 - 198777132 198906558 - 198808003 198937429 - 8554872 16344560;19080682 100131234 ABBA01027577;ABBA01027578;AL136321;AMYH02002445;AMYH02002446;BX355821;DA528985;EF413001;HG493053;NR_040073 ABN58747 Hs.711077 RP11-31E23.1 ncrna HGNC:48659 VALIDATED 1343014 MIR15B microRNA 15b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q25.33 158543743 158543840 + 160122376 160122473 + 160404588 160404685 + 6480464 12007417;12554860;14573789;16381832;17604727;17616659;19135980;19956871;21725369;22045185;22613985;23287814;23688497;23907579;24122375;24152911;24435757 406949 ABBA01058796;AC024221;AJ535833;AMYH02008018;NR_029663 MIRN15B;hsa-mir-15b;miR-15b APPROVED ncrna HGNC:31544 PROVISIONAL 1342848 MIR16-2 microRNA 16-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q25.33 158543900 158543980 + 160122533 160122613 + 160404745 160404825 + 11679670;11914277;12624257;14573789;15183728;15325244;16381832;17604727;17616659;20309880;23325924;23686310;24148817;24418124 406951 ABBA01058796;AC024221;AF480520;AF480552;AJ550396;AMYH02008018;NR_029525 MIRN16-2;mir-16-3 APPROVED ncrna HGNC:31546 PROVISIONAL 1349974 MIR181B2 microRNA 181b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q33.3 98103875 98103963 + 127455989 127456077 + 124693710 124693798 + 6480464 12624257;15634332;15800047;16039986;16381832;17604727;17616659;19547998;20347265;20596961;21130495;23515710 406956 ABBA01043752;AL158075;AMYH02021634;NR_029782 MIRN181B2 APPROVED ncrna ENSG00000207737 HGNC:31551 612745 PROVISIONAL 1344915 MIR181A2 microRNA 181a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q33.3 98102607 98102716 + 127454721 127454830 + 124692442 124692551 + 6480464 12554860;12624257;15634332;16039986;16381832;17604727;17616659;17989717;19221487;20576283;20841506;21130495;21244495;21271219;21385555;22009755;22042811;22084432;22209977;22285729;22847611;23023298;23023500;23085757;23258801;23301034;23322078;23594704;23740615;23886199;24685694 406954 ABBA01043752;AL158075;AMYH02021634;NR_029611 1853208 WI-11569 MIRN181A;MIRN181A2;hsa-mir-181a-2 microrna 181a APPROVED ncrna ENSG00000207595 HGNC:31549 612743 PROVISIONAL 2922954 MIR181A2HG MIR181A2 host gene (non-protein coding) INTERACTS WITH valproic acid 9 9 q33.3 127420715 127460907 + 124658436 124698628 + 6480464 15364906;21697133;8889548 100379345 AB593023;ABBA01043752;AL158075;AMYH02021633;AMYH02021634;BM716898;NR_038975 Hs.660412 ncrna ENSG00000224020 HGNC:37188 VALIDATED 1348634 MIR17 microRNA 17 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. The precursor microRNA encoded by this gene produces two mature miRNAs from its 5-prime and 3-prime ends, respectively. [provided by RefSeq, May 2012] 13 13 13 q31.3 72849830 72849913 + 92002859 92002942 + 91350605 91350688 + 6480464 11679670;11914277;12554860;15183728;15325244;15944707;15944709;15978578;16381832;16940181;17284533;17604727;17616659;18327259;18632605;18644370;18688024;18695042;18700987;18773208;18836483;18941111;19048628;19066217;19158830;19287466;19347736;19633662;19672269;19821056;19949084;20022054;20089119;20148420;20209605;20349219;20406904;20505989;20656682;20703102;20711463;20810544;20878079;21040528;21176349;21203553;21283765;21338882;21370248;21444672;21816922;21898695;21953646;21955497;22072491;22132820;22228753;22438230;22583011;22730212;22828869;22959509;23001407;23029228;23056289;23059786;23095762;23108086;23129428;23203215;23226946;23246221;23258273;23263848;23285084;23306545;23333058;23391506;23399447;23418359;23433743;23436804;23492770;23497354;23562609;23568010;23583198;23602254;23661605;23728176;23768492;23770094;23780339;23818358;23911400;23936170;24252850;24360091;24462867;24801601;24879052 406952 ABBA01027235;AF480529;AF480562;AJ421735;AL162375;AMYH02028470;NG_032702;NR_029487 MIR17-5p;MIR91;MIRN17;MIRN91;hsa-mir-17;miR-17;miR17-3p;miRNA17;miRNA91 APPROVED ncrna ENSG00000275042 HGNC:31547 609416 REVIEWED 1351688 MIR181B1 microRNA 181b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q32.1 171950530 171950639 - 198828002 198828111 - 198858873 198858982 - 6480464 12624257;15634332;15800047;16039986;16381832;17604727;17616659;19547998;20347265;20596961;20797623;21130495;21636858;21876743;22232059;22251480;22446332;22466166;22539488;22722712;22901205;23313477;23418555;23431408;23437222;23515710;23810250;23827213;24075517;24084690;24269684;24735543 406955 ABBA01027577;AL136321;AMYH02002446;NR_029612 MIRN181B1 APPROVED ncrna ENSG00000207975 HGNC:31550 612744 PROVISIONAL 2312946 MIR1825 microRNA 1825 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 27581947 27581999 + 30825598 30825650 + 32237795 32237847 + 16381832;18392026 100302183 ABBA01019279;AL121897;AMYH02036920;NG_033906;NR_031726 MIRN1825;hsa-mir-1825 APPROVED ncrna ENSG00000221667 HGNC:35389 PROVISIONAL 2312961 MIR1826 microRNA 1826 16381832;18392026 100302162 AC136932;NR_031727 MIRN1826;hsa-mir-1826 miscrna HGNC:35390 1351132 MIR181A1 microRNA 181a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q32.1 171950701 171950810 - 198828173 198828282 - 198859044 198859153 - 6480464 12554860;12624257;15634332;16039986;16381832;17604727;17616659;17989717;19273599;19883312;20204284;20363096;21102523;21159845;21167132;21307844;21453975;22006119;22042773;22209977;22219331;22232059;22251480;22492871;22535975;22971574;22986534;23100311;23222517;23408835;23418555;23740615;23911747;24148247;24267199;24532253;24685694 406995 ABBA01027577;AJ550416;AL136321;AMYH02002446;NR_029626 MIR213;MIRN181A1;MIRN213;hsa-mir-181a-1;mir-213 microrna 213 APPROVED ncrna ENSG00000207759 HGNC:31590 612742 PROVISIONAL 1350100 MIR181C microRNA 181c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.13 13879258 13879367 + 13985513 13985622 + 13874699 13874808 + 6480464 12624257;16039986;16381832;17604727;20080834;21112091;21720722;21994399;22310912;23077021;23352489;23425811;24345480;24397367;24789793 406957 ABBA01029709;AC020916;AJ550411;AMYH02035592;NR_029613 MIRN181C;mir-181c APPROVED ncrna ENSG00000207613 HGNC:31552 612746 PROVISIONAL 2312922 MIR1827 microRNA 1827 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 100583662 100583727 + 100189884 100189949 + 6480464 16381832;18392026;21676885 100302217 ABBA01053263;AC010203;AMYH02027054;NR_031728 MIRN1827;hsa-mir-1827 APPROVED ncrna HGNC:35391 PROVISIONAL 1346166 MIR182 microRNA 182 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. The microRNA encoded by this gene has been shown to down-regulate production of FOXO1, FOXO3, and microphthalmia-associated transcription factor-M, resulting in metastasis of certain tumors. [provided by RefSeq, Mar 2010] 7 7 7 q32.2 124205968 124206077 - 129410223 129410332 - 129770383 129770492 - 6480464 12624257;16381832;17597072;17604727;17616659;19188590;19574223;20370992;20420807;20472885;20656788;21195000;21503569;22045813;22086602;22134538;22322863;22325466;22582938;22681717;22790015;22848417;23006329;23019418;23153509;23169479;23226455;23262295;23296900;23313739;23329838;23333633;23354685;23383207;23430586;23474644;23474751;23783433;23874837;23877371;23906647;23987127;24001901;24021963;24053448;24277930;24404152;24445397;24447717;24971532 406958 ABBA01057625;AC084864;AMYH02016740;CH236950;NG_023385;NR_029614 MIRN182;miRNA182 APPROVED ncrna ENSG00000207990 HGNC:31553 611607 REVIEWED 1347667 MIR185 microRNA 185 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q11.21 3871865 3871946 + 20020662 20020743 + 20033139 20033220 + 6480464 12554859;12554860;15800047;16381832;17604727;17616659;19688090;20158877;20167074;20603620;20889907;21186079;21573504;21832077;21962230;22834685;23318422;23417242;23454892;23459944;23648054;23807228;23846337;23934683;23951060;24014023;24198204;24296663;24352663;24803541 406961 ABBA01005396;AC005663;AMYH02038055;AY194165;NR_029706 MIRN185;miR-185 APPROVED ncrna HGNC:31556 615576 PROVISIONAL 1343777 MIR187 microRNA 187 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 q12.2 30292723 30292831 - 33484781 33484889 - 35904818 35904926 - 6480464 12554860;12624257;16381832;17604727;21725366;23060431;23071313;23916610;24104394;24223155 406963 ABBA01022438;AC118757;AMYH02034557;AY194167;NR_029616 MIRN187;miR-187;miRNA187 APPROVED ncrna ENSG00000207797 HGNC:31558 612698 PROVISIONAL 1603765 MIR181D microRNA 181d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.13 13879434 13879570 + 13985689 13985825 + 13874875 13875011 + 6480464 15965474;16381832;17604727;22207524;22570426;23034410;24103759 574457 ABBA01029709;AC020916;AMYH02035592;AY785944;NR_030179 MIRN181D APPROVED ncrna ENSG00000207585 HGNC:32089 PROVISIONAL 1342756 MIR183 microRNA 183 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. The microRNA encoded by this gene has been shown to inhibit metastasis in lung cancer by down-regulating the expression of ezrin and other genes involved in migration and invasion of cancer cells. [provided by RefSeq, Mar 2010] 7 7 7 q32.2 124210490 124210599 - 129414745 129414854 - 129774905 129775014 - 6480464 12554860;12624257;16381832;17597072;17604727;17616659;18840437;19940135;20186779;20858276;21118966;21176563;21920043;22045813;22525461;22922800;23007659;23263745;23417028;23538390;23791657;23906647;24150523;24173391;24277930;24289859;24352761;24586048 406959 ABBA01057625;AC084864;AMYH02016740;AY194163;CH236950;NG_023385;NR_029615 MIRN183;miR-183;miRNA183 APPROVED ncrna ENSG00000207691 HGNC:31554 611608 REVIEWED 1351164 MIR184 microRNA 184 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q25.1 56438718 56438801 + 79502130 79502213 + 79209788 79209871 + 6480464;8699517;7240710;8554872 12554859;12554860;16381832;17604727;18451220;19033458;19286996;20409325;20889907;21844955;21996275;22131394;23696368;23724109;23833072;24157866 406960 ABBA01060605;AC069082;AMYH02030875;AY194164;NG_032125;NR_029705 KTCNCT;MIRN184;miR-184 EDICT APPROVED ncrna ENSG00000207695 HGNC:31555 613146;614303 REVIEWED 1350945 MIR18A microRNA 18a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This gene is a member of an oncogenic miRNA cluster that is overexpressed in multiple cancers. The miRNA encoded by this gene functions as a tumor suppressor by targeting Dicer expression. [provided by RefSeq, May 2012] 13 13 13 q31.3 72849976 72850046 + 92003005 92003075 + 91350751 91350821 + 6480464 11679670;11914277;15126345;15325244;15978578;16381832;17558416;17604727;17616659;18632605;19027010;19203451;19233176;19372139;19684618;21501375;21627027;21935572;21953462;21980462;22045190;23097559;23229340;23280137;23322197;23437304;23579215;23673725;23857602;24360091;24624454;24633304;24657544;24664294 406953 AB176708;ABBA01027235;AF480521;AF480553;AJ421736;AL162375;AMYH02028470;NG_032702;NR_029488 Hs.24115 MIR18;MIRN18;MIRN18A;hsa-mir-18;hsa-mir-18a;miR-18;miRNA18A microrna 18 APPROVED ncrna HGNC:31548 609417 REVIEWED 1604873 MIR18B microRNA 18b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133690904 133690974 - 133304071 133304141 - 134170041 134170111 - 6480464 15944709;16381832;17604727;19684618;21327300;22821209;23365201;23681229;23916701;23970382 574033 ABBA01042404;AC002407;AMYH02040525;NR_029949 MIRN18B;hsa-mir-18b APPROVED ncrna HGNC:32025 PROVISIONAL 1346900 MIR186 microRNA 186 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p31.1 69822549 69822634 - 71533314 71533399 - 71067631 71067716 - 6480464 12554859;12554860;16381832;17604727;17616659;18682393;20075508;23671127;24452363 406962 ABBA01074473;AJ560752;AL512443;AMYH02001247;AY194166;NR_029707 1736072;1853672 D1S2013E;RH68377 MIRN186;miR-186 APPROVED ncrna HGNC:31557 PROVISIONAL 2312927 MIR1909 microRNA 1909 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.3 1750242 1750321 - 1816158 1816237 - 1816159 1816238 - 8554872 16381832;18583537;21042738 100302210 ABBA01002687;AC012615;AMYH02035167;NR_031730 MIRN1909;hsa-mir-1909 APPROVED ncrna HGNC:35393 615201 PROVISIONAL 1352314 MIR188 microRNA 188 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53837336 53837421 + 49768109 49768194 + 50003503 50003588 + 6480464 12554859;12554860;16381832;17604727;18230126;20167074;23434382 406964 ABBA01063308;AC231645;AF222686;AMYH02039357;AY194168;NG_007159;NR_029708 MIRN188;miR-188 APPROVED ncrna HGNC:31559 PROVISIONAL 2312894 MIR1910 microRNA 1910 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 70078363 70078442 - 85775227 85775306 - 85741621 85741700 - 16381832;18583537;23226537 100302261 ABBA01034277;AC018695;AMYH02032599;NR_031731 MIRN1910;hsa-mir-1910 APPROVED ncrna HGNC:35394 PROVISIONAL 2312918 MIR1911 microRNA 1911 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 114432915 114432994 + 113997744 113997823 + 114763184 114763263 + 16381832;18583537 100302222 ABBA01053604;AC004822;AL590097;AMYH02040270;NR_031732 MIRN1911;hsa-mir-1911 APPROVED ncrna HGNC:35395 PROVISIONAL 2312893 MIR1908 microRNA 1908 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 58918035 58918114 - 61582633 61582712 - 61815161 61815240 - 6480464 16381832;18583537;19508715;20224791;23142051;23226537 100302263 ABBA01003206;AMYH02024883;AP002380;NR_031729 MIRN1908;hsa-mir-1908 APPROVED ncrna HGNC:35392 PROVISIONAL 2312978 MIR1913 microRNA 1913 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 167662199 167662278 - 166922842 166922921 - 166509354 166509433 - 6480464 16381832;18583537 100302141 ABBA01033442;AL022069;AMYH02014967;NR_031734 MIRN1913;hsa-mir-1913 APPROVED ncrna HGNC:35397 PROVISIONAL 2312975 MIR1912 microRNA 1912 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 114321217 114321296 + 113886019 113886098 + 114651544 114651623 + 16381832;18583537;19784364 100302144 ABBA01053596;AC007025;AC233299;AMYH02040268;NR_031733 MIRN1912;hsa-mir-1912 APPROVED ncrna ENSG00000222321 HGNC:35396 PROVISIONAL 1345210 MIR191 microRNA 191 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.31 49014774 49014865 - 49058051 49058142 - 49020618 49020709 - 6480464 12554859;12554860;15325244;15891114;16381832;17604727;17616659;19048628;19954774;20167074;20169152;20924108;21084273;21969817;22683624;22898264;23500661;23505378;23542418;23564792;23724042;24195505 406966 ABBA01024618;AC137630;AMYH02006735;AY194171;NG_033126;NR_029690 MIRN191;miR-191 APPROVED ncrna ENSG00000207605 HGNC:31561 615150 VALIDATED 2312982 MIR1914 microRNA 1914 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 59256678 59256757 - 62572818 62572897 - 63941465 63941544 - 6480464 16381832;18583537;23535732 100302137 ABBA01021433;AL118506;AMYH02037476;NR_031735 MIRN1914;hsa-mir-1914 APPROVED ncrna HGNC:35398 PROVISIONAL 2312986 MIR1915 microRNA 1915 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 p12.31 21473315 21473394 - 21785491 21785570 - 21496562 21496641 - 6480464 16381832;18583537;21042738;22121083;23861881;24814047 100302129 ABBA01034498;AL358780;AMYH02022419;NR_031736 MIRN1915;hsa-mir-1915 APPROVED ncrna HGNC:35399 615202 PROVISIONAL 2290210 MIR190B microRNA 190b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q21.3 127237860 127237938 - 154166141 154166219 - 154193665 154193743 - 6480464 16381832;17604727 100126346 ABBA01049475;AL590431;AMYH02001918;NR_030600 MIRN190B APPROVED ncrna HGNC:33656 PROVISIONAL 1603767 MIR193B microRNA 193b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.12 14573940 14574022 + 14397824 14397906 + 14303967 14304049 + 6480464 15965474;16274478;16381832;17604727;17616659;19684618;19701247;19883314;20073067;20304954;20889907;21512034;21724256;22491710;22674437;22752226;22797075;22986534;23335975;24374827;24778027;25034398 574455 ABBA01006884;AC040173;AMYH02031540;NR_030177 MIRN193B APPROVED ncrna ENSG00000207639 HGNC:32087 614734 PROVISIONAL 1350382 MIR193A microRNA 193a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q11.2 26806777 26806864 + 29887015 29887102 + 31559996 31560083 + 6480464 12554859;16381832;17604727;17616659;21399664;21670079;22325218;22333974;22384930;22907428;22986534;23097335;23223432;23546867;23588298;23758639;24356455 406968 ABBA01014956;AC003101;AMYH02033303;NR_029710 MIRN193;MIRN193A microrna 193 APPROVED ncrna ENSG00000207614 HGNC:31563 614733 PROVISIONAL 1344358 MIR194-2 microRNA 194-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q13.1 61984894 61984978 - 64658827 64658911 - 64891355 64891439 - 12554859;14573789;16381832;17604727;24398877 406970 ABBA01024139;AMYH02024946;AP001187;NR_029829 1798586;1844424;1971986;1971988;1971990;1971992;1971994;1971996;1971998;1972000;1972002;1972004;1972006 ECD00132;ECD23426;REN56878;REN56879;REN56880;REN56881;REN56882;REN56883;REN56884;REN56885;REN56886;REN56887;REN56888 MIRN194-2 APPROVED ncrna ENSG00000277225 HGNC:31565 610941 PROVISIONAL 1347802 MIR190A microRNA 190a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q22.2 39995775 39995859 + 63116156 63116240 + 62823957 62824041 + 6480464 12554859;12554860;16381832;17604727;21750348;23034410;23245204;24009311;24962367 406965 ABBA01038922;AC103740;AMYH02030575;AY194170;NG_033932;NR_029709 MIR190;MIRN190;hsa-mir-190a;miR-190 APPROVED ncrna HGNC:31560 615845 PROVISIONAL 1348209 MIR194-1 microRNA 194-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q41 193510708 193510792 - 220291499 220291583 - 220118157 220118241 - 6480464 12554859;14573789;16381832;17604727;20951946;21845495;21851624;22028325;22396742;23743335;24002436;24398877 406969 ABBA01048082;AC103590;AMYH02002730;NR_029711 MIRN194-1 APPROVED ncrna ENSG00000207624 HGNC:31564 610940 PROVISIONAL 1353191 MIR196A2 microRNA 196a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q13.13 54035139 54035248 + 54385522 54385631 + 53991738 53991847 + 6480464 12554859;12624257;15105502;16381832;17604727;17616659;19138993;19293314;19514064;19567675;19834808;19847796;19851984;19881472;20188135;20229273;20466450;20480203;20488170;20501619;20549817;20585341;20640596;20732906;20842445;20848167;21073609;21080878;21241442;21345130;21483822;21565628;21604580;21617338;21624236;21625865;21637771;21692953;21815818;21902575;21907588;21962133;22001830;22159951;22161766;22222140;22291993;22358059;22426473;22545021;22659075;22692992;22719192;22768213;22832484;22872486;22876840;22882355;22952151;23138850;23143626;23160898;23202363;23228090;23250869;23423813;23433405;23516510;23593385;23719600;23792053;23928854;24039706;24107909;24248733;24291415;24320161;24633889;24681820 406973 ABBA01008362;AC012531;AMYH02026528;NR_029617 2171265 STS-N31842 MIRN196-2;MIRN196A2 APPROVED ncrna ENSG00000207924 HGNC:31568 609687 PROVISIONAL 1353067 MIR192 microRNA 192 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q13.1 61984676 61984785 - 64658609 64658718 - 64891137 64891246 - 6480464 12554859;12554860;12624257;14573789;16381832;17604727;19074876;19088023;20056746;20647341;20889907;20951946;21119604;21372198;21511813;21672525;21785383;22205577;22264233;22433310;23170939;23612862;23649428;23715501;23737550;23737551;23743335;24012720;24223844;24623846;24791633 406967 ABBA01024139;AMYH02024946;AP001187;AY194172;NR_029578 1798586;1844424;1971984;1971986;1971988;1971990;1971992;1971994;1971996;1971998;1972000;1972002;1972004 ECD00132;ECD23426;REN56877;REN56878;REN56879;REN56880;REN56881;REN56882;REN56883;REN56884;REN56885;REN56886;REN56887 MIRN192;miR-192;miRNA192 APPROVED ncrna ENSG00000207648 HGNC:31562 610939 PROVISIONAL 1343846 MIR195 microRNA 195 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p13.1 6946439 6946525 - 6920934 6921020 - 7017615 7017701 - 6480464 12554859;16381832;17108080;17604727;18677302;20727858;20952681;21350001;21390519;21792910;21947305;22046085;22217655;22265971;22289176;22721728;22723898;22802111;22847610;23236408;23333942;23383003;23451060;23468064;23487264;23544130;23756429;23760062;23807224;24025765;24282590;24294368;24402230;24486218;24740565 406971 ABBA01054845;AC040977;AMYH02032882;NR_029712 MIRN195;miRNA195 APPROVED ncrna ENSG00000275739 HGNC:31566 610718 PROVISIONAL 4108560 MIR1972-1 microRNA 1972-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 15104178 15104254 - 15010321 15010397 - 11237011;15496913;15616553;16381832;18923441 100302243 ABBA01193097;AC138932;AC245049;NR_036054 2167993 RH46084 MIR1972;hsa-mir-1972;hsa-mir-1972-1 APPROVED ncrna ENSG00000238728 HGNC:37060 VALIDATED 4108984 MIR1972-2 microRNA 1972-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 70064249 70064325 + 70030346 70030422 + 16381832;18923441;23535729;23535733 100422922 ABBA01000842;AC009022;AMYH02032292;NR_036265 APPROVED ncrna ENSG00000239118 HGNC:38252 VALIDATED 2312930 MIR1974 microRNA 1974 q15 100302207 AC093311;NR_031738 hsa-mir-1974 miscrna HGNC:37062 1353314 MIR196A1 microRNA 196a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q21.32 43164015 43164084 - 46709852 46709921 - 48632490 48632559 - 6480464 12554859;12624257;15105502;16381832;17604727;17616659;18663355;19063684;19418581;20127796;20229273;20480203;20601442;20614181;20722507;20889907;21077158;22001830;22139073;22358059;22420029;22545021;22859270;23470291;24007214;24048456;24120501;24379078;24922658 406972 ABBA01041173;AC103702;AJ560753;AMYH02033543;NR_029582 MIRN196-1;MIRN196A1 APPROVED ncrna ENSG00000210741 HGNC:31567 608632 PROVISIONAL 2312904 MIR1975 microRNA 1975 16381832;18923441 100302248 AC073140;NR_031739 hsa-mir-1975 miscrna HGNC:37063 1348973 MIR197 microRNA 197 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p13.3 108410814 108410888 + 110141515 110141589 + 109598893 109598967 + 6480464 12554859;16381832;17604727;17616659;20167074;20889907;21435175;22351693;23139153;24123340;24613834 406974 ABBA01068380;AJ560754;AL355310;AMYH02001711;NR_029583 MIRN197;miR-197;miRNA197 APPROVED ncrna ENSG00000207709 HGNC:31569 611189 PROVISIONAL 2312941 MIR1977 microRNA 1977 100302189 AC114498;NR_031741 hsa-mir-1977 miscrna HGNC:37065 2312954 MIR1978 microRNA 1978 100302173 AC105402;NR_031742 hsa-mir-1978 miscrna HGNC:37066 2312882 MIR1973 microRNA 1973 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 114513169 114513212 + 117220881 117220924 + 116299725 116299768 + 6480464 16381832;18923441 100302290 ABBA01063859;AC024248;AMYH02009971;NR_031737 hsa-mir-1973 APPROVED ncrna HGNC:37061 PROVISIONAL 2974673 MIR1979 microRNA 1979 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] q32.3 16381832;18923441 100302176 AC012504;NR_031743 hsa-mir-1979 miscrna HGNC:37067 2312940 MIR1976 microRNA 1976 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 25278218 25278269 + 26881033 26881084 + 26554542 26554593 + 16381832;18923441 100302190 ABBA01034913;AL627313;AMYH02000568;NR_031740 hsa-mir-1976 APPROVED ncrna HGNC:37064 PROVISIONAL 1347994 MIR19A microRNA 19a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This miRNA belongs to a polycistronic miRNA cluster that includes six consecutive mature miRNAs that are derived from a single primary transcript. The mature miRNAs of this cluster are often overexpressed in solid cancers. [provided by RefSeq, May 2012] 13 13 13 q31.3 72850116 72850197 + 92003145 92003226 + 91350891 91350972 + 6480464 11679670;11914277;12554860;15126345;16381832;17604727;17616659;18632605;19538740;20133739;20167074;20857258;21059650;21271217;22105995;22362744;22561557;22828869;22952885;23603256;23621248;23666757;23795660;23824915;23894411;24048714;24360091;24416156;24427326;24460313 406979 AB176708;ABBA01027235;AF480522;AF480554;AJ421737;AL162375;AMYH02028470;NG_032702;NR_029489 Hs.24115 MIRN19A;hsa-mir-19a;miR-19a;miRNA19A APPROVED ncrna ENSG00000277328 HGNC:31574 609418 REVIEWED 1346116 MIR19B1 microRNA 19b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This miRNA belongs to a polycistronic miRNA cluster that includes six consecutive mature miRNAs that are derived from a single primary transcript. The mature miRNAs of this cluster are often overexpressed in solid cancers. [provided by RefSeq, May 2012] 13 13 13 q31.3 72850417 72850503 + 92003446 92003532 + 91351192 91351278 + 11679670;11914277;12554860;14573789;15126345;15183728;15325244;15978578;16381832;17604727;17616659;18632605;21176349;22197821;23433743;23681423;24824927 406980 AB176708;ABBA01027235;AF480523;AF480555;AJ421739;AL162375;AMYH02028470;NG_032702;NR_029490 Hs.24115 MIRN19B1;miR-19b-1;miRNA19B1 APPROVED ncrna ENSG00000275802 HGNC:31575 609419 REVIEWED 1350479 MIR196B microRNA 196b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p15.2 27198038 27198121 - 27209099 27209182 - 27169480 27169563 - 6480464 12554860;15105502;16381832;17604727;17616659;19144710;20058197;20494936;20549547;20570349;20662076;20924650;21750860;22099053;22298639;22353710;22723849;22836757;22976466;23049982;23293219;23861821;23894305;24222951;24334453 442920 ABBA01056760;AC004080;AMYH02015408;CH236948;NG_029923;NR_029911 1675915;1801382;1831382;2058922;2058924;2058926;2058928;2058930;2058932;2058934;2058936;2058938;2058940;2058942 ECD01564;ECD16827;REN100636;REN100637;REN100638;REN100639;REN100640;REN100641;REN100642;REN100643;REN100644;REN100645;REN100646;RH80053 MIRN196B;miR-196b;miRNA196B APPROVED ncrna ENSG00000207584 HGNC:31790 609688 VALIDATED 1347760 MIR19B2 microRNA 19b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133690534 133690629 - 133303701 133303796 - 134169671 134169766 - 6480464 11679670;11914277;12554860;14573789;15183728;15325244;15978578;16381832;17604727;17616659;23681423 406981 ABBA01042404;AC002407;AF480556;AJ421740;AMYH02040525;NR_029491 MIRN19B2;miR-19b-2 APPROVED ncrna ENSG00000207812 HGNC:31576 300722 PROVISIONAL 1347765 MIR198 microRNA 198 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q13.33 118523918 118523979 - 120114515 120114576 - 120395668 120395729 - 6480464 12554859;16381832;17604727;19671678;20167074;20347265;21658389;22295894;23069480;23354517;23391410;23395958;23989979 406975 ABBA01061566;AC063952;AJ560755;AMYH02007512;NR_029584 1673277;1735298;1858159 D3S2939E;SHGC-77232;SHGC-77238 MIRN198;miR-198 APPROVED ncrna HGNC:31570 PROVISIONAL 1352073 MIR199B microRNA 199b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q34.11 101657904 101658013 - 131007000 131007109 - 128244721 128244830 - 6480464 12624257;14573789;16381832;17604727;18548097;19308264;19900756;21102440;21557766;22374871;22411914;22920721;23296799;23444217;23574781;24680705 406978 ABBA01043872;AJ550412;AL590708;AMYH02021710;NG_029726;NR_029619 MIRN199B;mir-199b APPROVED ncrna ENSG00000207581 HGNC:31573 614791 VALIDATED 1349796 MIR199A2 microRNA 199a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q24.3 145223106 145223215 - 172113675 172113784 - 172144535 172144644 - 12554859;12624257;15978578;16381832;17604727;18408758;20158877;20400975;21055388;22294637;22359598;23319430 406977 ABBA01027921;AL137157;AMYH02002145;NR_029618 MIR-199-s;MIRN199A2 APPROVED ncrna ENSG00000208024 HGNC:31572 610720 PROVISIONAL 1353057 MIR200C microRNA 200c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 p13.31 8693881 8693948 + 7072862 7072929 + 6963699 6963766 + 6480464 14573789;15183728;16381832;17604727;17616659;17804704;18381893;19502803;19665978;19801681;20084174;20514023;20620960;20696752;21051560;21224847;21224848;21237487;21248297;21345725;21501518;21516486;21527937;21873159;21899661;22015043;22100809;22101791;22144583;22183793;22223089;22364742;22384255;22407310;22522429;22562822;22615771;22641662;22685266;22707408;22735571;22954417;22982443;22991189;23041061;23065816;23185507;23272142;23394580;23455327;23546450;23584475;23635949;23708087;23754305;23765923;23788640;23821457;23824089;23838916;23872359;23950995;23982750;23995857;24039897;24135722;24143167;24204560;24615544;24682933;24710933;25017995 406985 ABBA01017670;AMYH02025958;NR_029779;U47924 MIRN200C APPROVED ncrna HGNC:31580 612092 PROVISIONAL 1346476 MIR199A1 microRNA 199a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.2 10822947 10823017 - 10928102 10928172 - 10817426 10817496 - 12554859;12624257;15978578;16381832;17604727;18408758;18456660;20158877;21055388;21189327;21383689;22093618;22265968;22294637;22383663;22903020;22956063;22973051;23118427;23174576;23319430;23337876;23360823;23437196;23657814;23760629;23764775;23851675;24022342;24065659;24299514;24391856;24609899 406976 ABBA01029895;AC007229;AJ560756;AMYH02035506;NR_029586 MIR-199-s;MIRN199A1 APPROVED ncrna ENSG00000207752 HGNC:31571 610719 PROVISIONAL 1603774 MIR202 microRNA 202 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q26.3 128455338 128455447 + 135061015 135061124 - 133247511 133247620 - 6480464 15965474;16381832;17604727;20889907;23334589;23936094;24337320;24704686 574448 ABBA01006207;AL592071;AMYH02024088;AY882277;NR_030170 MIRN202;hsa-mir-202 APPROVED ncrna ENSG00000278352 HGNC:32080 PROVISIONAL 5134172 MIR203B microRNA 203b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 104583755 104583840 - 104117418 104117503 - 16381832;21199797;21807764 100616173 ABBA01048391;AL136001;AMYH02029941;NR_039859 MIR3545;hsa-mir-203b APPROVED ncrna HGNC:41811 PROVISIONAL 7398992 MIR202HG MIR202 host gene (non-protein coding) 10 10 q26.3 135059983 135061497 - 133246479 133247885 - 101927671 ABBA01006207;AL592071;AMYH02024088;HG503389;HG503390;HY017367;NR_108078;NR_108079 Hs.741766 RP13-49I15.5 ncrna ENSG00000166917 HGNC:49402 VALIDATED 1345431 MIR203A microRNA 203a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.33 84637945 84638054 + 104583742 104583851 + 104117405 104117514 + 6480464 12624257;16381832;17604727;17622355;18483491;19551852;19759552;19843643;20219920;20652642;20698882;20702634;21063914;21159887;21205209;21299870;21323860;21354697;21368580;21454413;21536793;21684271;21707582;21786180;21836020;21943223;22082000;22205737;22306317;22354972;22391564;22514743;22679274;22690848;22713668;22886454;22917968;22940702;23073851;23190607;23285092;23354685;23416953;23447531;23449450;23462723;23719259;23725129;23732815;23746242;23785202;23790975;23813496;23819812;23867971;23884313;23918241;24001611;24039897;24040137;24045437;24145123;24145190;24247238;24270883;24682952;24884571 406986 ABBA01048391;AL136001;AMYH02029941;NR_029620 MIR203;MIRN203;hsa-mir-203a;miR-203;miRNA203 APPROVED ncrna ENSG00000207568 HGNC:31581 611899 PROVISIONAL 2312895 MIR2052 microRNA 2052 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 71612148 71612202 + 75617928 75617982 + 74705693 74705747 + 16381832;18952845 100302260 ABBA01041986;AC115837;AMYH02018237;NR_031744 hsa-mir-2052 APPROVED ncrna HGNC:37068 PROVISIONAL 1350430 MIR205 microRNA 205 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q32.2 182836332 182836441 + 209605478 209605587 + 209432133 209432242 + 6480464 12624257;16381832;17604727;17616659;18719201;19033458;19144710;19190970;19238171;19244118;19665999;19839716;20167074;20428818;20436283;20530248;20588024;20889907;21237487;21263248;21330408;21363915;21368878;21372198;21426561;21453382;21454583;21787752;22159356;22223089;22294324;22356767;22374676;22391564;22514717;22525428;22555458;22578566;22631664;22782668;22859986;22869146;22871739;22890556;22949650;22987275;23041061;23056551;23125283;23212344;23239884;23297865;23447575;23571738;23589079;23612742;23683741;23800974;23856247;23881177;23924028;23950153;23994666;24084898;24098490;24129185;24147037;24166197;24167554;24173237;24223734;24297308;24314651;24339740;24370341;24434435;24462768;24576478;24911147 406988 ABBA01048219;AL035408;AMYH02002596;NR_029622 1644273;1644275;5022189 A006A02;G20640;RH68246 MIRN205 APPROVED ncrna HGNC:31583 613147 PROVISIONAL 2312915 MIR2053 microRNA 2053 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 109842267 109842357 + 113655722 113655812 + 112643493 112643583 + 16381832;18952845 100302225 ABBA01037742;AC104380;AMYH02018629;NR_031745 hsa-mir-2053 APPROVED ncrna ENSG00000238399 HGNC:37069 PROVISIONAL 1346904 MIR204 microRNA 204 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q21.12 43997268 43997377 - 73424891 73425000 - 70809975 70810084 - 6480464 12624257;16381832;17604727;20056717;20889907;21316776;21321078;21400511;21446014;22516261;22523078;22718995;22982025;23152059;23204229;23285024;23541832;23620728;23768087;24025188;24280681;24321270;24613926;24617557 406987 ABBA01033830;AL159990;AMYH02020960;NR_029621 MIRN204;miRNA204 APPROVED ncrna HGNC:31582 610942 PROVISIONAL 1343713 MIR200B microRNA 200b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p36.33 1480246 1480340 - 1102484 1102578 + 1167104 1167198 + 6480464 12769849;14573789;15891114;16381832;17585049;17604727;17616659;18381893;19501389;19671845;19801681;20514023;20551052;20574809;20668090;20683643;20832727;21049046;21051560;21079000;21081489;21237487;21725369;22139708;22183793;22231446;22294131;22311119;22522429;22703336;22804917;22868917;23074016;23169479;23205572;23223443;23318438;23389960;23455327;23483548;23492772;23543137;23635949;23708087;23760980;23774697;23851184;23867826;23872359;23995857;24037528;24064224;24067373;24072701;24127332;24151081;24174534;24281414;24317363;24391862;24447584;24627491;24667864;24769353 406984 ABBA01016022;AL390719;AMYH02000082;NR_029639 MIRN200B APPROVED ncrna ENSG00000207730 HGNC:31579 612091 PROVISIONAL 1348162 MIR200A microRNA 200a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p36.33 1479492 1479581 - 1103243 1103332 + 1167863 1167952 + 6480464 12554859;15634332;15891114;16381832;17604727;17616659;18381893;19501389;19671845;19703993;19931509;20124485;20167074;20473948;20514023;20551052;20826811;21051560;21115742;21237487;21285251;21529905;21596753;21698760;21837748;21926171;21955614;22077060;22082152;22101765;22161972;22183793;22294131;22529366;22868917;22957494;22987275;23074016;23318438;23329838;23340296;23381389;23455327;23525011;23635949;23679328;23708087;23760980;23774697;23784775;23813959;23872359;23938385;23943804;23975430;24009066;24162743;24280074;24393345;24503464;24504363;24599990;24627491;24684598 406983 ABBA01016022;AL390719;AMYH02000082;NR_029834 MIRN200A APPROVED ncrna ENSG00000207607 HGNC:31578 612090 PROVISIONAL 1352988 MIR206 microRNA 206 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 p12.2 53670284 53670369 + 52009147 52009232 + 52144349 52144434 + 6480464 12554859;16381832;17604727;18593897;19423651;19620785;19684618;19710019;19723635;20346098;20347265;20487562;20519629;20696132;21157919;21518959;21637854;21645416;21983130;22110210;22308266;22330340;22508046;22912879;22926857;23071643;23348698;23466356;23499676;23696595;23751352;23886177;23921124;24040336;24107628;24288551;24460924 406989 ABBA01050561;AL391221;AMYH02013730;NR_029713 MIRN206;miRNA206 APPROVED ncrna HGNC:31584 611599 PROVISIONAL 2946918 MIR2054 microRNA 2054 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q28.1 123808700 123808748 + 126428414 126428462 + 125507259 125507307 + 16381832;18952845;19734545 100302267 ABBA01044777;AC092629;AMYH02010048;NR_031746 hsa-mir-2054 APPROVED ncrna HGNC:37070 PROVISIONAL 1604874 MIR20B microRNA 20b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133690672 133690740 - 133303839 133303907 - 134169809 134169877 - 6480464 15944709;15965474;16274478;16381832;17604727;17616659;20232316;21081659;22438230;22901144;23459718;23945289;24405935;24994098 574032 ABBA01042404;AC002407;AMYH02040525;AY785943;NR_029950 MIRN20B;hsa-mir-20b APPROVED ncrna ENSG00000207710 HGNC:32024 PROVISIONAL 5552909 MIR205HG MIR205 host gene (non-protein coding) INTERACTS WITH trichostatin A; valproic acid 1 1 1 q32.2 182833022 182836748 + 209602168 209605894 + 209428376 209432549 + 6480464 16344560;8889548 642587 Q7Z5Z9 ABBA01048219;AL035408;AMYH02002596;AW275825;AY320401;BG674039;BM980083;CV575609;DA461662;NM_001104548;XM_006711486 AAP73803;NP_001098018;XP_006711549 Hs.510543 1644273;1644275;5022189 A006A02;G20640;RH68246 LINC00510 NPC-A-5;long intergenic non-protein coding RNA 510;uncharacterized protein LOC642587 protein-coding HGNC:43562 VALIDATED 1352718 MIR20A microRNA 20a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This miRNA belongs to a polycistronic miRNA cluster that includes six consecutive mature miRNAs that are derived from a single primary transcript. The mature miRNAs of this cluster are often overexpressed in solid cancers. [provided by RefSeq, May 2012] 13 13 13 q31.3 72850290 72850360 + 92003319 92003389 + 91351065 91351135 + 6480464 11679670;12554860;14573789;15126345;15325244;15944709;15978578;16381832;17135249;17604727;17616659;18632605;18695042;18773208;18836483;19048628;19893619;20089119;20167074;20406904;20485376;20583868;20711463;20944140;21242194;21283765;21743293;21816922;22186140;22381757;22438230;22449978;22648654;22682761;22696064;22751500;22785209;22825541;22901144;23056289;23059786;23087182;23203215;23246221;23307259;23333058;23515710;23562609;23602254;23665284;23681423;23725129;23768492;23819812;23911400;23924943;24236097;24397367 406982 AB176708;ABBA01027235;AJ421738;AL162375;AMYH02028470;NG_032702;NR_029492 Hs.24115 MIR20;MIRN20;MIRN20A;hsa-mir-20;hsa-mir-20a;miR-20;miRNA20A microrna 20 APPROVED ncrna ENSG00000275534 HGNC:31577 609420 REVIEWED 4892519 MIR210HG MIR210 host gene (non-protein coding) INTERACTS WITH valproic acid 11 11 11 p15.5 628314 631077 - 565657 568457 - 565657 568457 - 6480464 14702039 100506211 ABBA01015192;AC138374;AK123483;AMYH02024145;AP006284;NR_038262 Hs.446388 2119411 SHGC-31256 FLJ41489 ncrna ENSG00000247095 HGNC:39524 VALIDATED 1346072 MIR208A microRNA 208a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q11.2 3720516 3720586 - 23857805 23857875 - 23388596 23388666 - 6480464 12554859;16381832;17379774;20029200;20447577;22713968;23034410;23121236;24253456 406990 ABBA01061320;AL049829;AMYH02028869;NR_029595 MIR208;MIRN208;MIRN208A;hsa-mir-208a;miRNA208 APPROVED ncrna HGNC:31585 611116 PROVISIONAL 2312959 MIR2113 microRNA 2113 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 99116575 99116665 + 98472407 98472497 + 98024531 98024621 + 16381832;16954537;19015728;23648065 100302164 ABBA01014505;AL590239;AMYH02014170;NR_031579 hsa-mir-2113 APPROVED ncrna ENSG00000238367 HGNC:37058 PROVISIONAL 1344448 MIR211 microRNA 211 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q13.3 9082721 9082830 - 31357235 31357344 - 31065032 31065141 - 6480464 12624257;16381832;18946016;20056717;20378606;20889907;21072171;21109473;21435193;22223089;22235338;22523078;23183822;23726841;23934065;24039954 406993 ABBA01038324;AC009562;AC243586;AJ550414;NR_029624 MIRN211;mir-211 APPROVED ncrna HGNC:31588 613753 PROVISIONAL 3497327 MIR2115 microRNA 2115 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 48357850 48357949 - 48316360 48316459 - 16381832;19390579;20224791 100313840 ABBA01024652;AC105267;AMYH02006716;NR_031749 APPROVED ncrna HGNC:37309 PROVISIONAL 2290220 MIR208B microRNA 208b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q11.2 3749891 3749967 - 23887196 23887272 - 23417987 23418063 - 6480464;8554872 16381832;16954537;17604727;20921333;23034410;23448306;23871635;24241692 100126336 ABBA01061320;AL132855;AMYH02028869;NR_030624 5024749 RH93331 MIRN208B APPROVED ncrna HGNC:33669 613613 PROVISIONAL 2312916 MIR2110 microRNA 2110 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 109663035 109663109 - 115933864 115933938 - 114174105 114174179 - 16381832;19144710 100302224 ABBA01062982;AC022023;AMYH02023848;NR_031747 hsa-mir-2110 APPROVED ncrna ENSG00000238742 HGNC:37071 PROVISIONAL 3497322 MIR2116 microRNA 2116 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 36351331 36351410 - 59463382 59463461 - 59171183 59171262 - 16381832;19390579 100313886 ABBA01038969;AC092756;AMYH02030541;NG_031999;NR_031750 APPROVED ncrna HGNC:37310 VALIDATED 1345765 MIR210 microRNA 210 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 p15.5 630746 630855 - 568089 568198 - 568089 568198 - 6480464;8554872 12624257;15800047;16381832;17604727;17616659;18283792;18417479;19551852;19652553;19712585;19782034;19808020;20075508;20187102;20308562;20436681;20498629;20809117;20885442;20888330;20964835;21044961;21360638;21388517;21555452;21622133;21700819;21704399;21738599;21801864;21812927;22095477;22144109;22249254;22287106;22360314;22387901;22541087;22641662;22672828;22703336;22833359;22842193;22886504;22896707;22962263;22977270;23024754;23028679;23034410;23051042;23097335;23150176;23302469;23383105;23388440;23430441;23439645;23449350;23492775;23579275;23608607;23618526;23623309;23660476;23688833;23798503;23831622;23844087;24035613;24065453;24212760;24272361;24305009;24316592;24720529;24909053;24930954;24951777 406992 ABBA01015192;AC138374;AJ550413;AMYH02024145;AP006284;NR_029623 2119411 SHGC-31256 MIRN210;mir-210 APPROVED ncrna ENSG00000199038 HGNC:31587 612982 PROVISIONAL 3516308 MIR2117 microRNA 2117 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 7872 7951 + 41522174 41522253 + 43444806 43444885 + 16381832;19390579 100313779 ABBA01028414;AC087650;AMYH02033458;NR_031751 APPROVED ncrna ENSG00000278547 HGNC:37311 PROVISIONAL 3497328 MIR2114 microRNA 2114 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 149644327 149644406 + 149396239 149396318 + 150228004 150228083 + 16381832;19390579;20224791 100313839 ABBA01037093;AC144560;AC235697;AMYH02040761;NR_031748 APPROVED ncrna HGNC:37308 PROVISIONAL 1352239 MIR212 microRNA 212 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p13.3 1970210 1970319 - 1953565 1953674 - 2050271 2050380 - 6480464 12624257;16381832;18162065;20020497;20856931;21053104;21329664;22077060;22110741;22241070;22357618;22692398;22880819;23011132;23264652;23295264;23583431;23585551;23794145;23922798;23974008;24338410;24961235 406994 AC090617;AJ550415;AMYH02032761;NR_029625 MIRN212;mir-212 APPROVED ncrna ENSG00000267195 HGNC:31589 613487 PROVISIONAL 1349265 MIR21 microRNA 21 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q23.1 54382140 54382211 + 57918627 57918698 + 59841266 59841337 + 6480464 11679670;11914277;12477932;12554860;14573789;15183728;15325244;15525708;15978578;16024602;16365291;16381832;17363372;17478730;17604727;17616659;17622355;17681183;17968323;18059191;18196926;18218696;18372920;18384814;18507035;18591254;18688024;18719201;18794849;18798260;18812439;18829576;18932017;18971265;19013014;19048628;19072831;19106647;19159078;19212625;19264808;19276261;19296468;19302977;19398721;19408243;19419954;19430705;19435867;19446359;19509156;19509158;19546886;19547998;19559015;19578724;19597153;19633292;19641183;19672202;19682430;19730150;19737943;19816956;19826040;19921579;19946272;20092645;20093556;20113523;20141427;20148895;20153722;20158877;20167074;20223231;20335152;20346098;20346171;20363096;20370992;20371612;20372781;20393129;20404348;20428818;20447717;20480266;20483747;20489163;20498843;20504344;20514462;20515755;20620599;20625373;20628822;20643828;20647767;20693317;20701609;20797623;20813833;20826792;20831814;20856158;20889907;20980091;21042775;21069438;21078976;21081469;21088996;21099344;21104017;21131358;21159845;21170291;21187093;21219636;21229610;21263248;21271219;21278789;21279518;21317927;21324318;21328460;21330826;21347332;21350005;21373745;21376256;21381024;21412018;21435175;21453382;21467264;21468550;21471222;21516486;21521185;21525938;21544242;21546206;21562928;21602271;21618027;21636706;21636785;21647251;21647970;21649547;21673684;21685938;21698265;21712654;21718132;21721011;21749846;21806946;21817107;21820586;21820606;21849676;21863027;21872591;21876743;21909994;21917003;21943223;21955614;21956205;21983937;22001440;22001830;22034194;22057972;22066022;22072622;22099878;22114136;22119803;22130252;22133680;22140441;22158624;22162762;22174421;22176994;22187223;22194833;22212233;22244963;22267008;22267128;22286305;22289526;22289545;22316494;22320969;22322403;22335905;22335906;22347428;22351693;22353043;22354855;22357537;22367347;22371328;22417311;22430134;22435731;22466166;22476768;22519435;22526161;22541087;22547075;22553926;22573493;22609400;22614007;22614019;22614176;22617246;22618231;22630347;22631664;22634616;22638884;22642976;22666537;22678116;22685542;22690848;22698984;22709411;22728051;22739167;22760500;22761812;22770403;22782668;22806311;22811001;22836756;22836856;22844109;22853427;22868372;22879939;22882958;22891879;22898264;22901216;22922228;22924844;22956424;22958183;22960330;22964638;22978663;22999472;23011541;23041385;23052693;23074166;23077620;23082189;23097335;23104517;23137528;23139258;23174574;23174819;23177026;23201752;23206776;23216894;23224068;23239100;23259291;23267156;23269581;23272057;23272133;23275230;23321165;23334650;23353719;23359184;23390194;23410520;23416953;23417858;23441172;23446999;23462458;23469132;23469214;23479230;23482671;23485110;23485999;23496142;23504349;23548551;23554878;23558936;23564788;23564792;23578931;23583411;23604124;23613882;23621186;23621247;23625654;23633945;23643356;23657402;23684551;23708209;23709326;23717419;23719259;23771797;23774697;23777591;23788041;23810250;23811941;23817679;23820752;23824073;23834154;23851508;23857284;23860376;23872064;23881177;23883112;23898484;23904372;23933812;23936642;23940701;23963283;23991015;23998932;24001611;24004609;24007214;24012640;24023850;24033414;24037531;24037889;24039353;24039846;24063588;24068500;24076132;24078506;24098447;24098708;24102090;24112539;24118467;24122631;24154840;24161395;24196965;24214874;24221338;24248894;24265822;24275137;24288670;24291274;24307698;24314882;24326156;24334453;24335017;24391209;24428907;24460329;24460332;24468088;24488617;24518062;24574341;24594117;24606718;24607444;24631982;24650454;24659669;24664585;24680681;24710931;24756761;24780321;24793999;24821435;24906642;24992582;25049417 406991 ABBA01003177;AC004686;AC244499;AF480502;AF480524;AF480557;AJ421741;AY699265;BC053563;NR_029493 Hs.444569 1650041;1675367;1697200;1744883;2131691 D17F294S2;RH102091;RH46129;RH91780;SHGC-64257 MIRN21;hsa-mir-21;miR-21;miRNA21 APPROVED ncrna ENSG00000199004 HGNC:31586 611020 PROVISIONAL 1347052 MIR214 microRNA 214 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q24.3 145217369 145217478 - 172107938 172108047 - 172138798 172138907 - 6480464 12624257;16381832;17108080;17604727;18199536;18230126;19733659;19859982;20400975;21216304;21228352;21468029;21525938;21828058;22048026;22249219;22350790;22359598;22399294;22540680;22613005;22828925;22867052;22927443;22929890;22962603;22973051;22982546;23068095;23100276;23187003;23301758;23337879;23360823;23408966;23479198;23532734;23624869;23667173;23905773;23929716;23962428;23965969;24038809;24122827;24158985;24167554;24277415;24616020;24802407 406996 ABBA01027921;AJ550417;AL137157;AMYH02002145;NR_029627 MIRN214;miRNA214;mir-214 APPROVED ncrna ENSG00000207949 HGNC:31591 610721 PROVISIONAL 1345766 MIR215 microRNA 215 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q41 193510404 193510513 - 220291195 220291304 - 220117853 220117962 - 6480464 12624257;16381832;17604727;19074876;20433742;20647341;20951946;21119604;21752725;22033272;22205577;22469014;23034410;23532818;23715501;23981575;24710934 406997 ABBA01048082;AC103590;AJ550418;AMYH02002730;NR_029628 MIRN215;miRNA215;mir-215 APPROVED ncrna ENSG00000207590 HGNC:31592 610943 PROVISIONAL 1344474 MIR218-1 microRNA 218-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 p15.31 20986406 20986515 + 20529898 20530007 + 20528275 20528384 + 6480464 12624257;16381832;17604727;17616659;19372056;20300657;20510072;20838434;20843712;20933503;21309487;21385904;21519788;21795477;22011248;22088371;22237456;22705304;22766851;22968430;23212916;23243056;23255074;23483249;23566829;23733161;23886165;23950210;23970061;24091133;24247270;24357514;24368849;24375253 407000 ABBA01032644;AC021118;AJ550421;AMYH02008853;NR_029631 MIRN218-1;mir-218-1 APPROVED ncrna HGNC:31595 PROVISIONAL 2290236 MIR216B microRNA 216b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 p16.1 56068265 56068346 - 56227849 56227930 - 56000714 56000795 - 6480464 16381832;16954537;17604727;23034410;24681041 100126319 ABBA01075280;AC011306;AMYH02003864;NR_030623 MIRN216B APPROVED ncrna ENSG00000211520 HGNC:33668 PROVISIONAL 1353818 MIR216A microRNA 216a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 p16.1 56056494 56056603 - 56216085 56216194 - 55988950 55989059 - 6480464 12624257;16381832;17604727;20167074;22282338;22392644;22960330;23174591;23471579;24481443 406998 ABBA01075280;AC011306;AJ550419;AMYH02003864;NR_029629 MIR216;MIRN216;MIRN216A;miRNA216;mir-216 APPROVED ncrna ENSG00000207798 HGNC:31593 610944 PROVISIONAL 1347035 MIR218-2 microRNA 218-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q34 164229947 164230056 - 168195151 168195260 - 168768146 168768255 - 8554872 12624257;16381832;17604727;17616659;20838434;20889907;21385904;22237456;22766851;23720784;23970061 407001 ABBA01044114;AC011365;AJ550422;AMYH02012701;NG_033081;NR_029632 MIRN218-2;mir-218-2 APPROVED ncrna HGNC:31596 VALIDATED 1353680 MIR219A2 microRNA 219a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q34.11 101805800 101805896 - 131154897 131154993 - 128392618 128392714 - 12624257;15634332;16381832;17604727;18548097;22957142;23637748 407003 ABBA01043877;AL359091;AMYH02021713;NR_029837 MIR219-2;MIRN219-2;hsa-mir-219a-2 APPROVED ncrna ENSG00000273685 HGNC:31598 PROVISIONAL 1351642 MIR219A1 microRNA 219a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 p21.32 34729976 34730085 + 33175612 33175721 + 33207835 33207944 + 12624257;15634332;16381832;17553428;17604727;19138993;19851984;20585341;20732906;20889907;23508906;23690991;23813567;25031391 407002 ABBA01038138;AJ550423;AL645940;AL713971;AL844527;AMYH02013481;CR759733;CR759786;CR847841;NR_029633 2106397;2189413 D6S2731;MARC_5283-5284:991939549:1 MIR219-1;MIRN219-1;MRI219-1;hsa-mir-219a-1;mir-219 APPROVED ncrna ENSG00000199036 HGNC:31597 611500 PROVISIONAL 2290253 MIR220B microRNA 220b p13.3 16381832;17604727 100126300 AC010503;NR_030585 MIRN220B miscrna HGNC:33640 1345864 MIR22 microRNA 22 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p13.3 1632905 1632989 - 1617197 1617281 - 1713903 1713987 - 6480464 11679670;11914277;14573789;15978578;16381832;17604727;17616659;18066065;19414598;20158877;20180843;20214878;20523723;20562918;20633528;20842113;20889907;21057539;21168126;21176563;21502362;21565979;21594648;21629773;21750200;21798241;22166214;22375943;22484852;22492279;22660186;23022100;23188185;23203215;23349832;23372812;23516279;23529765;23582783;23766411;23786758;23794259;23827711;23830207;23851184;24449575;24495805;24609901;24752578;24906624 407004 ABBA01054671;AC130343;AF480525;AJ421742;AMYH02032751;NG_032811;NR_029494 MIRN22;hsa-mir-22;miR-22 APPROVED ncrna HGNC:31599 612077 VALIDATED 1350788 MIR220A microRNA 220a q25 12624257;16381832 407005 AJ550424;AL030996;NR_029634 MIRN220;MIRN220A;hsa-mir-220a;mir-220 miscrna HGNC:31600 2290212 MIR220C microRNA 220c 16381832;17604727 100126344 AC008403;NR_030591 MIRN220C miscrna HGNC:33647 1352986 MIR222 microRNA 222 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.3 49798348 49798457 - 45606421 45606530 - 45747015 45747124 - 6480464 12624257;15183728;15325244;16330772;16381832;17569667;17604727;17616659;17721077;17914108;18708351;18790736;19107213;19109175;19351832;19464057;19487542;19520829;19551852;19589872;19615744;19883312;19953484;19962668;20012062;20103675;20167074;20198336;20203269;20305142;20417062;20428775;20461750;20489169;20504344;20624000;20813046;20818387;20857258;21042732;21057537;21071579;21076613;21132270;21537871;21586237;21656127;21673316;21706050;21711453;21743492;21756067;21868360;21873159;22009755;22075712;22117988;22127852;22267590;22294051;22321642;22351693;22562984;22677042;22681957;22685016;22854542;23023232;23312020;23353719;23400877;23497354;23522449;23587485;23648338;23776679;23895238;23912551;23994196;24026657;24129242;24295494;24301304;24452416;24601884 407007 ABBA01052119;AC234772;AJ550426;AL034412;AMYH02039251;NR_029636 MIRN222;miRNA222;mir-222 APPROVED ncrna ENSG00000207725 HGNC:31602 300569 PROVISIONAL 5134098 MIR219B microRNA 219b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 q34.11 131154900 131154987 + 128392621 128392708 + 16381832;21199797;21911355 100616335 ABBA01043877;AL359091;AMYH02021713;NR_039815 MIR2964A;hsa-mir-219b APPROVED ncrna HGNC:41823 PROVISIONAL 1345644 MIR217 microRNA 217 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 p16.1 56050481 56050590 - 56210102 56210211 - 55982967 55983076 - 6480464 12624257;16381832;17604727;19786632;20675343;21106538;22001830;22308024;22406815;22446413;23697367;23790169;24350829 406999 ABBA01075280;AC011306;AJ550420;AMYH02003864;NR_029630 MIRN217;mir-217 APPROVED ncrna HGNC:31594 615096 PROVISIONAL 1349484 MIR221 microRNA 221 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.3 49797482 49797591 - 45605585 45605694 - 45746157 45746266 - 6480464 12624257;15325244;16330772;16365291;16381832;17569667;17604727;17616659;17721077;17914108;18382364;18521080;18708351;18759060;18790736;19088079;19107213;19109175;19126397;19159078;19351599;19351832;19424584;19464057;19585579;19615744;19671867;19730150;19749093;19767219;19953484;19962668;20012062;20018759;20110463;20146005;20158877;20167074;20198336;20203269;20305142;20417062;20428775;20461750;20547861;20624000;20813046;20818387;20880178;20975375;21042732;21057537;21071579;21076613;21119596;21132270;21159845;21236259;21278784;21378318;21458843;21487968;21538272;21562054;21586237;21673316;21706050;21743492;21756067;21868360;21873159;22009537;22075712;22117988;22127852;22156446;22267590;22272270;22275134;22294051;22396537;22466166;22562984;22572970;22613407;22660186;22681957;22685016;22728346;22855362;22864280;23023232;23031797;23307259;23320393;23333386;23353719;23372675;23390134;23400877;23444217;23497354;23564792;23569131;23579640;23607629;23637992;23648338;23770133;23770851;23776679;23860376;23867206;23895238;23944957;24093444;24129242;24147037;24195082;24269686;24286315;24295494;24319365;24409057;24475314;24607843;24760272;25019494;25053875 407006 ABBA01052119;AC234772;AJ550425;AL034412;AMYH02039251;NR_029635 MIRN221;miRNA221;mir-221 APPROVED ncrna ENSG00000207870 HGNC:31601 300568 PROVISIONAL 3497325 MIR2276 microRNA 2276 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 5798781 5798869 + 24736555 24736643 + 24162416 24162504 + 16381832;19508715;23034410 100313842 ABBA01007887;AL359736;AMYH02027701;NR_031753 APPROVED ncrna HGNC:37313 PROVISIONAL 3497321 MIR2277 microRNA 2277 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 88815798 88815890 - 92956402 92956494 - 93620696 93620788 - 16381832;19508715;20224791 100313887 ABBA01069283;AC106818;AMYH02011803;NR_031754 APPROVED ncrna ENSG00000251725 HGNC:37314 PROVISIONAL 3516306 MIR2278 microRNA 2278 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 68013279 68013374 + 97572244 97572339 + 94809962 94810057 + 16381832;19508715 100313780 ABBA01043629;AL157936;AMYH02021261;NR_031755 APPROVED ncrna HGNC:37315 PROVISIONAL 4108862 MIR2355 microRNA 2355 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 201736192 201736278 - 207974711 207974797 - 207109987 207110073 - 16381832;19784364;20224791;20459774;20532037;21199797 100423036 ABBA01062674;AC008062;AMYH02005640;NR_036227 APPROVED ncrna HGNC:38328 PROVISIONAL 1351663 MIR23A microRNA 23a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.13 13841149 13841221 - 13947401 13947473 - 13836587 13836659 - 6480464 11679670;11914277;14573789;15325244;16381832;17604727;17616659;19513126;20086171;20698883;20815877;21593605;21693609;21750350;22455847;22634383;22653319;22752005;23019365;23158364;23322776;23444217;23450049;23630040;23649631;23758639;23865473;23918807;23929433;24103454;24457242 407010 ABBA01029712;AC020916;AF480526;AF480558;AJ421743;AMYH02035589;NR_029495 MIRN23A;hsa-mir-23a;miRNA23A APPROVED ncrna ENSG00000207980 HGNC:31605 607962 PROVISIONAL 1342661 MIR223 microRNA 223 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q12 65585857 65585966 + 65238712 65238821 + 66018870 66018979 + 6480464 12624257;16381832;17604727;17996649;18056805;18442408;18555017;19017354;19047678;19048628;19144983;19148136;19278969;19289845;19931339;20018373;20029046;20080987;20188071;20418243;20802470;20826802;20856265;21229610;21453483;21628394;21939504;22006119;22032299;22145958;22238823;22270966;22424712;22470493;22569260;22903258;22932402;22984081;22984082;23026916;23056289;23094093;23144169;23174904;23208072;23436935;23444217;23459944;23489116;23584479;23601845;23757351;23857984;23886700;23925649;23946414;23953883;23970099;23978443;24048714;24084739;24227773;24304814;24307738;24324762;24330517;24400121;24438193;24784921;24816316 407008 ABBA01067079;AJ550427;AL034397;AMYH02039615;NR_029637 MIRN223;miRNA223;mir-223 APPROVED ncrna ENSG00000207939 HGNC:31603 300694 PROVISIONAL 1346129 MIR224 microRNA 224 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q28 151372641 151372721 - 151127050 151127130 - 151958578 151958658 - 6480464 12554860;15891114;16331254;16381832;17604727;17616659;18319255;19015728;19144710;19403413;19475450;19793168;21912701;22459148;22809510;22989374;23136246;23199328;23263909;23399735;23631806;23770133;23846336;23922662;24203893;24382668;24430932;24768995;24785373 407009 ABBA01037272;AF274855;AMYH02040783;NR_029638 MIRN224;miRNA224 APPROVED ncrna HGNC:31604 300769 PROVISIONAL 5133876 MIR2392 microRNA 2392 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 101280828 101280911 + 100814491 100814574 + 16381832;20733160 100616495 ABBA01048519;AL117190;AMYH02029862;NR_039729 APPROVED ncrna ENSG00000266461 HGNC:41843 PROVISIONAL 1605910 MIR22HG MIR22 host gene (non-protein coding) INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; acetaldehyde; aflatoxin B1 17 17 17 p13.3 1630502 1635274 - 1614798 1619566 - 1711504 1716272 - 6480464 12477932;16341674;16344560;20705733;23022100;24036268;8619474;9110174 84981 Q0VDD5 ABBA01054671;AC130343;AF070569;AI147777;AMYH02032751;BC007813;BC070225;BC119720;BC119721;BI756450;BM755383;BX509423;BX640650;BX648321;CH471108;DA543295;HG508542;HG508544;HG508547;HG508550;HG508553;HG508554;HG508555;HG508556;HG508558;HG508559;HG508560;NR_028502;NR_028503;NR_028504;NR_028505 AAI19721;AAI19722;EAW90585;EAW90586;Q0VDD5 Hs.597755 1662359;2175687 RH12131;WI-17501 C17orf91;DKFZp686O06159;MGC14376;MGC149751 APPROVED ncrna ENSG00000186594 HGNC:28219 17497 VALIDATED 1344925 MIR24-2 microRNA 24-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.13 13840849 13840921 - 13947101 13947173 - 13836287 13836359 - 6480464 11679670;11914277;14573789;15325244;15978578;16381832;17604727;17616659;19048628;19513126;20158877;20195546;20347265;20815877;21463514;21593605;23142218;23322776;23649631 407013 ABBA01029712;AC020916;AF480559;AJ421745;AMYH02035589;NR_029497 MIRN24-2;miR-24-2;miRNA24-2 APPROVED ncrna ENSG00000276797 HGNC:31608 610724 PROVISIONAL 1351042 MIR25 microRNA 25 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q22.1 94425842 94425925 - 99691183 99691266 - 100093560 100093643 - 6480464;8554872 11679670;15325244;16381832;17604727;17616659;18328430;19486339;19541842;20388916;20637509;20935678;21953056;22076535;22431589;22450326;22829805;23246404;23435373;23611780;23681423;23827155;23836524;24078004;24293092;24593846;24670661 407014 ABBA01013238;AC073842;AJ421746;AMYH02016371;CH236956;NR_029498 MIRN25;hsa-mir-25;miR-25 APPROVED ncrna HGNC:31609 612150 PROVISIONAL 5134206 MIR2681 microRNA 2681 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 102619992 102620096 - 101967642 101967746 - 16381832;21199797 100616110 ABBA01027078;AL512629;AMYH02028623;NR_039603 APPROVED ncrna HGNC:41532 PROVISIONAL 1349177 MIR23B microRNA 23b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 68288521 68288617 + 97847490 97847586 + 95085208 95085304 + 6480464 12007417;16381832;17108080;17604727;17616659;20086171;20133741;20562915;20889907;21242962;21642441;22109528;22127852;22649212;22660635;22710126;22745829;22982144;23074286;23189187;23300597;23338610;23450049;23844063;23916944;24002170;24145177;24203893;24613919;24855060 407011 ABBA01043625;AL354893;AMYH02021264;NR_029664 MIRN23B;hsa-mir-23b;miRNA23B APPROVED ncrna HGNC:31606 610723 PROVISIONAL 1342757 MIR24-1 microRNA 24-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 68289334 68289401 + 97848303 97848370 + 95086021 95086088 + 6480464 11679670;11914277;12554859;14573789;15325244;15978578;16224024;16381832;17604727;17616659;19048628;19377482;20019669;20041160;20158877;20195546;20347265;20816961;20889907;21807902;22761894;22815235;23142218;23172553;23229173;23254855;23418360;23761103;23794259;23836801;24314651;24677249 407012 ABBA01043625;AF480560;AJ421744;AL354893;AMYH02021264;NR_029496 MIR189;MIRN24-1;miR-24-1;miRNA24-1 APPROVED ncrna HGNC:31607 609705 PROVISIONAL 5134087 MIR2467 microRNA 2467 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 240273419 240273499 - 239351724 239351804 - 16381832;21199797;21558790 100616360 ABBA01033518;AC062017;AMYH02006082;NR_039948 APPROVED ncrna HGNC:41881 PROVISIONAL 1350106 MIR26B microRNA 26b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q35 213033991 213034067 + 219267369 219267445 + 218402646 218402722 + 6480464 11679670;14573789;15325244;16381832;17604727;17616659;19812400;20167074;20347265;20831567;20889907;21264258;21510944;21901137;22139073;22194877;22307176;22614013;23418963;23650540;23939832;24027266;24140453;24565101 407017 ABBA01023870;AC021016;AJ421748;AMYH02005792;NG_030418;NR_029500 MIRN26B;hsa-mir-26b;miR-26b APPROVED ncrna HGNC:31612 612152 VALIDATED 1345708 MIR27A microRNA 27a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.13 13841002 13841079 - 13947254 13947331 - 13836440 13836517 - 6480464 11679670;11914277;15325244;16381832;17546506;17604727;17616659;18619946;18789835;19114653;19513126;19574223;19921425;19948051;19950226;19960259;20382698;20558719;20624637;20638779;20646448;20666778;20708603;20815877;21460851;21558443;21569481;21593605;21597324;21960590;22018270;22184411;22415478;22505583;22614734;22719192;22761427;22895821;23034448;23117485;23118855;23229173;23236401;23240057;23246964;23254855;23254909;23266669;23322776;23438830;23444217;23449803;23471840;23472065;23524006;23559009;23613822;23621256;23649631;23650389;23752185;23762318;23897856;23918807;23954879;23963114;24009229;24083724;24086481;24133204;24154848;24212398;24223174;24380734;24462738;24725595;24746199;24821854;24835395 407018 ABBA01029712;AC020916;AF480561;AJ421749;AMYH02035589;NR_029501 MIR27;MIRN27A APPROVED ncrna ENSG00000207808 HGNC:31613 612153 PROVISIONAL 1343068 MIR27B microRNA 27b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 68288758 68288854 + 97847727 97847823 + 95085445 95085541 + 6480464 12007417;12554860;14573789;16381832;16982751;17604727;17616659;19800867;20131257;20164187;20388705;20495621;20888330;20889907;21562928;21899661;21922148;22077423;22120719;22127852;22184411;22213330;22777896;22902387;23300597;23338610;23593282;24037889;24133204;24177325 407019 ABBA01043625;AL354893;AMYH02021264;NR_029665 MIR-27b;MIRN27B;miRNA27B APPROVED ncrna HGNC:31614 610636 PROVISIONAL 4888855 MIR23C microRNA 23c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 20035206 20035305 - 20017088 20017187 - 16381832;20459774 100500809 ABBA01071830;AL732366;AMYH02038980;NR_037414 hsa-mir-23c APPROVED ncrna HGNC:38913 PROVISIONAL 1347029 MIR26A1 microRNA 26a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p22.2 37945267 37945343 + 38010895 38010971 + 37969404 37969480 + 6480464 11679670;14573789;15183728;15325244;15978578;16381832;17604727;17616659;18713946;19138993;19701194;19812400;19851984;20130213;20230625;20525681;20585341;20732906;20857419;20889907;20952513;21199804;21610700;22139073;22194877;22384020;22409234;22469510;22885155;23096114;23108995;23190898;23338972;23418963;23525216;23538750;23543060;23750239;23861775;23870455;24015269;24047927;24116110;24116168;24140063;24211747;24259426;24297604;24328779;24452597;24466274 407015 ABBA01024840;AC105752;AJ421747;AMYH02006564;NR_029499 1661327 D3S3077 MIR26A;MIRN26A1 APPROVED ncrna HGNC:31610 612151 PROVISIONAL 1345037 MIR26A2 microRNA 26a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q14.1 57876312 57876395 - 58218392 58218475 - 57824609 57824692 - 11679670;14573789;15183728;15325244;15978578;16381832;17604727;17616659 407016 ABBA01026693;AC121759;AMYH02026597;NR_029847 MIRN26A2 APPROVED ncrna HGNC:31611 613057 PROVISIONAL 4108998 MIR2861 microRNA 2861 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2011] 9 9 9 101199060 101199149 + 130548197 130548286 + 127785918 127786007 + 7240710;8554872 16381832;19920351;23609190 100422910 ABBA01043844;AL162586;AMYH02021697;NG_029812;NG_033942;NR_036055 BMND15;MIRN2861 APPROVED ncrna HGNC:38221 613405;613418 REVIEWED 4108947 MIR2909 microRNA 2909 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 32213141 32213209 + 35391042 35391110 + 37033745 37033813 + 16381832;22504889 100422969 ABBA01012434;AC023315;AC244093;NR_036056 APPROVED ncrna HGNC:38372 PROVISIONAL 5133849 MIR2682 microRNA 2682 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 98510798 98510907 - 98045242 98045351 - 16381832;20224791;21199797;21911355 100616452 ABBA01045470;AC104453;AMYH02001539;NR_039604 APPROVED ncrna ENSG00000276280 HGNC:41688 PROVISIONAL 1349952 MIR296 microRNA 296 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.32 54133130 54133209 - 57392670 57392749 - 58817615 58817694 - 6480464 12919684;15183728;15634332;16381832;17604727;17616659;19926710;20485139;20561597;21138859;21643016;21724611;22999387;23468506;24527800;24915000 407022 ABBA01005969;AL132655;AMYH02037373;NR_029844 MIRN296;miRNA296 APPROVED ncrna ENSG00000276373 HGNC:31617 610945 PROVISIONAL 1342536 MIR28 microRNA 28 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q28 186838595 186838680 + 188406569 188406654 + 188688781 188688866 + 6480464 11679670;16381832;17604727;17616659;18230126;19236753;20445018;21638050;22240480;24491803;24843176 407020 ABBA01058353;AC063932;AJ421750;AMYH02008389;NR_029502 MIRN28;hsa-mir-28;miR-28 APPROVED ncrna HGNC:31615 612154 PROVISIONAL 3184212 MIR297 microRNA 297 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q25 109075577 109075642 - 111781738 111781803 - 110860582 110860647 - 6480464 16381832;17322031;22676135;24158111 100126354 ABBA01063799;AC024198;AMYH02009913;NR_030643 MIRN297;hsa-mir-297 APPROVED ncrna ENSG00000215961 HGNC:33691 615520 PROVISIONAL 1345678 MIR299 microRNA 299 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81546163 81546225 + 101490131 101490193 + 101023794 101023856 + 6480464 12919684;15634332;15891114;16381832;17604727;19538464;20889907;21364636;23362143 407023 ABBA01048514;AL132709;AMYH02029867;NR_029841 MIRN299 APPROVED ncrna HGNC:31618 PROVISIONAL 2290255 MIR300 microRNA 300 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81563757 81563839 + 101507700 101507782 + 101041363 101041445 + 6480464 16381832;17604727 100126297 ABBA01048514;AL132709;AMYH02029867;NR_030582 MIRN300;hsa-mir-300 APPROVED ncrna ENSG00000215957 HGNC:33636 PROVISIONAL 2290256 MIR298 microRNA 298 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.32 54133741 54133828 - 57393281 57393368 - 58818226 58818313 - 6480464 16381832;17604727;22521303 100126296 ABBA01005969;AL132655;AMYH02037373;NR_030580 MIRN298;hsa-mir-298 APPROVED ncrna ENSG00000216031 HGNC:33634 614914 PROVISIONAL 2290237 MIR301B microRNA 301b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q11.21 5824810 5824887 + 22007270 22007347 + 21652981 21653058 + 6480464 16381832;16954537;17604727;20470754;24398967 100126318 ABBA01055056;AMYH02038120;AP000553;NR_030622 MIRN301B APPROVED ncrna ENSG00000212102 HGNC:33667 PROVISIONAL 1345841 MIR301A microRNA 301a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q22 53691496 53691581 - 57228497 57228582 - 59151136 59151221 - 6480464 12919684;15183728;15634332;16381832;17604727;20470754;21175428;22373864;22628193;23832550;24035358;24315818 407027 ABBA01041364;AC099850;AMYH02033702;NR_029842 MIR301;MIRN301;MIRN301A APPROVED ncrna HGNC:31622 615675 PROVISIONAL 1343298 MIR29B2 microRNA 29b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q32.2 181206266 181206346 - 207975788 207975868 - 207802443 207802523 - 6480464 11914277;12624257;15183728;16381832;17604727;17616659;19048628;20167074;20479936;22096249 407025 ABBA01048240;AF480543;AJ550397;AL035209;AMYH02002576;NR_029518 MIRN29B2;mir-29b-2 APPROVED ncrna ENSG00000276752 HGNC:31620 PROVISIONAL 1351109 MIR29C microRNA 29c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q32.2 181205675 181205762 - 207975197 207975284 - 207801852 207801939 - 6480464 12007417;12554860;16381832;17604727;17616659;18390668;19144983;19158830;20889907;21081840;21436257;21551130;21763284;22095981;22850539;23056289;23142282;23175151;23442884;23716670;23728341;23744344;23840538;23894561;23936390;23939044;23943502;24091622;24130168;24297604;24340017;24577056;24953694 407026 ABBA01048240;AL035209;AMYH02002576;NR_029832 1676354;1687650;2150694 RH80636;RH98868;SHGC-76280 MIRN29C;miRNA29C APPROVED ncrna HGNC:31621 610784 PROVISIONAL 1344588 MIR302C microRNA 302c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q25 110863612 110863679 - 113569519 113569586 - 112648363 112648430 - 6480464 15183728;16381832;17604727;19684618;22511267 442895 ABBA01063816;AC106864;AMYH02009938;NG_032779;NR_029858 MIRN302C APPROVED ncrna ENSG00000199102 HGNC:31764 614598 VALIDATED 1349629 MIR302B microRNA 302b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q25 110863734 110863806 - 113569641 113569713 - 112648485 112648557 - 6480464 15183728;16381832;17604727;18930031;21878650;22511267;24083596;24438167 442894 ABBA01063816;AC106864;AMYH02009938;NG_032779;NR_029857 MIRN302B APPROVED ncrna ENSG00000274389 HGNC:31763 614597 VALIDATED 1347389 MIR29B1 microRNA 29b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q32.3 125313299 125313379 - 130562218 130562298 - 130877459 130877539 - 6480464 11914277;15183728;16381832;17204650;17604727;17616659;18434550;19048628;19211935;19956414;19966860;20479936;20564213;20566844;20628397;21359530;21793034;21951844;22096249;22716646;23254643;23418963;23428668;23459615;23716670;23939044;24091622;24147037;24424054;24641356;24650661;24767251 407024 ABBA01057578;AC016831;AF480500;AF480541;AF480542;AMYH02016763;CH236950;NR_029517 MIRN29B1;miRNA29B1 APPROVED ncrna ENSG00000274250 HGNC:31619 610783 PROVISIONAL 1347397 MIR29A microRNA 29a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q32.3 125312587 125312650 - 130561506 130561569 - 130876747 130876810 - 6480464 11679670;12554860;14573789;15183728;15325244;16236258;16381832;17604727;17616659;18434550;18723672;18977326;19102781;19347736;20067797;20086245;20158877;20167074;20212066;20551325;20564213;20566844;20889907;21030553;21187425;21330653;21471522;21625215;21646425;21678057;21998710;22010139;22018950;22072783;22095981;22194605;22348113;22426940;22493297;22712836;22772450;22934851;22940552;22952654;22981932;23023935;23079660;23100393;23113351;23113544;23238947;23285022;23389914;23401122;23426367;23541945;23568010;23613882;23673725;23820384;23900458;23901138;23904094;23939044;23946286;23994196;24054330;24091622;24100420;24107002;24130168;24141696;24161319;24195082;24209632;24210072;24281002;24289849;24297604;24349318;24885463 407021 ABBA01057578;AC016831;AJ421751;AMYH02016763;CH236950;NR_029503 MIRN29;MIRN29A;hsa-mir-29;hsa-mir-29a;miRNA29A APPROVED ncrna HGNC:31616 610782 PROVISIONAL 3516309 MIR302E microRNA 302e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 p15.4 7375094 7375165 + 7255997 7256068 + 7234766 7234837 + 16381832;18285502 100313774 ABBA01028678;AC027804;AMYH02024277;NR_031683 MIRN302E APPROVED ncrna ENSG00000221703 HGNC:35348 PROVISIONAL 1352286 MIR302D microRNA 302d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q25 110863253 110863320 - 113569160 113569227 - 112648004 112648071 - 6480464 15183728;16381832;17604727;20889907 442896 ABBA01063816;AC106864;AMYH02009938;NG_032779;NR_029859 MIRN302D APPROVED ncrna ENSG00000199145 HGNC:31765 614599 VALIDATED 1352230 MIR302A microRNA 302a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q25 110863432 110863500 - 113569339 113569407 - 112648183 112648251 - 6480464 12919684;15183728;15634332;16381832;17604727;18710938;19342891;19386261;20495621;21062975;21266536;21454525;21490602;22012620;22384170;22511267;22515122;22732186;22847005;22988237;23136034;23184229;23185040;23256541;23625774;24318875;24705778 407028 ABBA01063816;AC106864;AMYH02009938;NG_032779;NR_029835 MIRN302;MIRN302A;hsa-mir-302 APPROVED ncrna ENSG00000207927 HGNC:31623 614596 VALIDATED 2974682 MIR302F microRNA 302f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 q12.1 24686106 24686156 + 27878876 27878926 + 30298910 30298960 + 16381832;18285502 100302131 ABBA01022524;AC115100;AMYH02034492;NR_031684 MIRN302F;hsa-mir-302f APPROVED ncrna HGNC:35349 PROVISIONAL 4109066 MIR3074 microRNA 3074 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 68289327 68289407 - 97848296 97848376 - 95086014 95086094 - 16381832;20300190;21199797 100422842 ABBA01043625;AL354893;AMYH02021264;NR_036109 1652635;1850109;1850111;2135688 A006I15;G20840;RH18210;RH41810 APPROVED ncrna ENSG00000207617 HGNC:38268 PROVISIONAL 4108993 MIR3065 microRNA 3065 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 75727850 75727928 + 79099677 79099755 + 81125877 81125955 + 16381832;20300190;20483914;21199797 100422915 ABBA01032125;AC115099;AMYH02034118;NG_029981;NR_036151 APPROVED ncrna HGNC:38234 VALIDATED 1348464 MIR30C2 microRNA 30c-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 q13 72475116 72475187 - 72086663 72086734 - 71376960 71377031 - 6480464 12007417;15325244;15634332;15978578;16381832;17604727;17616659;19048628;20889907;21878751;22024689;22431749;22952991;22964638 407032 ABBA01040282;AL136164;AMYH02013881;NR_029598 1754539;1769465 SHGC-132820;SHGC-52659 MIRN30C2 APPROVED ncrna HGNC:31627 PROVISIONAL 1352516 MIR30A microRNA 30a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 q13 72501691 72501761 - 72113254 72113324 - 71403551 71403621 - 6480464 11679670;11914277;14573789;15325244;16381832;17604727;17616659;18632683;19138993;19289845;19535919;19851984;19965479;20169152;20498642;20732906;20889907;21099261;21187425;21633953;22157765;22287560;22384020;22476851;22986530;23236408;23287430;23383034;23389917;23450709;23486085;23533592;23606081;23660476;23758992;23817492;23831330;23851509;24029422;24199710;24220856;24237608;24508260;24599134 407029 ABBA01040282;AF480535;AF480569;AJ421752;AL035467;AMYH02013881;NR_029504 1769453 WI-11027 MIRN30A APPROVED ncrna ENSG00000207827 HGNC:31624 612329 PROVISIONAL 1351898 MIR30C1 microRNA 30c-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p34.2 39505156 39505244 + 41222956 41223044 + 40757284 40757372 + 6480464 12007417;15325244;15634332;15978578;16381832;17604727;17616659;19048628;19138993;19851984;20490652;20732906;20889907;22964638;23159078;23318178;24129493;24148619;24199710;24623846 407031 ABBA01023162;AL354914;AMYH02000862;NR_029833 MIRN30C1 APPROVED ncrna HGNC:31626 615151 PROVISIONAL 1354313 MIR30E microRNA 30e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p34.2 39502227 39502318 + 41220027 41220118 + 40754355 40754446 + 6480464 12007417;12919684;15325244;15634332;16381832;17604727;17616659;20309880;20347265;20579744;22156201;22649192;24025694;24312366 407034 ABBA01023162;AL354914;AMYH02000862;NR_029846 MIRN30E APPROVED ncrna HGNC:31629 PROVISIONAL 5134070 MIR3064 microRNA 3064 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 q23.3 62496892 62496957 - 64500774 64500839 - 16381832;21199797 100616387 ABBA01035296;AC009994;AC234063;AMYH02033792;NR_039891 APPROVED ncrna HGNC:41652 PROVISIONAL 4109005 MIR3116-1 microRNA 3116-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 60833416 60833489 + 62544458 62544531 + 62078786 62078859 + 16381832;20300190 100422902 AL136458;AMYH02001136;NR_036058 APPROVED ncrna HGNC:38200 PROVISIONAL 4109042 MIR3115 microRNA 3115 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 21692934 21693001 + 23370798 23370865 + 23044305 23044372 + 16381832;20300190;21199797 100422866 ABBA01059861;AL031428;AMYH02000483;NR_036057 APPROVED ncrna HGNC:38371 PROVISIONAL 4109034 MIR3117 microRNA 3117 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 65384468 65384545 + 67094123 67094200 + 66628440 66628517 + 16381832;20300190;21199797;21606961 100422871 ABBA01074532;AL139147;AMYH02001194;NR_036060 APPROVED ncrna HGNC:38385 PROVISIONAL 1349241 MIR30B microRNA 30b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q24.22 131985504 131985591 - 135812763 135812850 - 134800520 134800607 - 6480464 12007417;16381832;17604727;17616659;20347265;20889907;21741600;22647547;22880027;22902743;22964638;23249809;23893664;23968872;24067935;24129493;24199710;24293274;24593661 407030 ABBA01012699;AC083843;AMYH02018822;NR_029666 MIRN30B APPROVED ncrna ENSG00000207582 HGNC:31625 PROVISIONAL 1344201 MIR30D microRNA 30d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q24.22 131989860 131989929 - 135817119 135817188 - 134804876 134804945 - 6480464 12007417;16381832;17604727;17616659;17989717;20935678;21741600;22058146;22782668;22902743;23085757;23231923;23272089;23274497;23416459;24001895;24132643;24345332 407033 ABBA01012699;AC083843;AMYH02018822;NR_029599 2131864 RH48213 MIRN30D APPROVED ncrna ENSG00000199153 HGNC:31628 PROVISIONAL 4108959 MIR3118-2 microRNA 3118-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 143163750 143163822 + 45989 46061 + 16381832;20300190 100422949 ABBA01031127;AMYH02001842;BX571672;NR_036062 APPROVED ncrna HGNC:38324 PROVISIONAL 4109019 MIR3118-5 microRNA 3118-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 15017096 15017171 - 13644775 13644850 - 16381832;20300190 100422890 AMYH02037514;AP001465;NR_036165 APPROVED ncrna ENSG00000266299 HGNC:38351 PROVISIONAL 4109003 MIR3118-6 microRNA 3118-6 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 22049274 22049348 + 21843750 21843824 + 16381832;20300190 100422906 AC183089;AMYH02030010;NR_036269 APPROVED ncrna ENSG00000265793 HGNC:38210 PROVISIONAL 4109061 MIR3118-3 microRNA 3118-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 1 14 41359875 41359949 - 143424141 143424215 - 81325 81399 - 16381832;20300190 100422844 AMYH02001843;BX004987;NR_036063 APPROVED ncrna ENSG00000273977 HGNC:38274 PROVISIONAL 4108967 MIR3116-2 microRNA 3116-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 60833419 60833486 - 62544461 62544528 - 62078789 62078856 - 16381832;20224791;20300190 100422946 AL136458;AMYH02001136;NR_036059 APPROVED ncrna HGNC:38318 PROVISIONAL 4108978 MIR3118-4 microRNA 3118-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 21038124 21038198 + 20832795 20832869 + 16381832;20300190 100422935 AC012414;AMYH02029993;NR_036134 APPROVED ncrna ENSG00000265322 HGNC:38287 PROVISIONAL 1343532 MIR31 microRNA 31 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 p21.3 21450429 21450499 - 21512114 21512184 - 21512115 21512185 - 6480464 11679670;16381832;17604727;17616659;18971265;19127597;19242066;19408243;19524507;19598010;19949084;20145132;20179198;20233326;20237410;20463022;20479124;20826792;20848542;20889907;20980827;21048943;21062447;21105030;21212803;21368878;21416501;21890451;22020941;22057972;22089331;22264793;22289355;22301433;22302717;22344632;22511990;22690848;22719913;22736314;22854067;22854542;22891326;22948084;23019418;23144465;23233723;23258531;23303246;23322774;23364795;23408039;23472152;23518389;23539435;23827457;23912551;23943853;23946296;23984644;23999990;24242331;24480806;24558106;24565840;24582497;24793973;24940638 407035 ABBA01065176;AJ421753;AL353732;AMYH02019288;NR_029505 MIRN31;hsa-mir-31;miR-31 APPROVED ncrna ENSG00000199177 HGNC:31630 612155 PROVISIONAL 4109067 MIR3119-1 microRNA 3119-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 143230335 143230419 - 170120519 170120603 - 170151378 170151462 - 16381832;20300190 100422839 ABBA01027944;AL445203;AMYH02002120;NR_036064 APPROVED ncrna HGNC:38253 PROVISIONAL 4108869 MIR3121 microRNA 3121 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 153514316 153514392 - 180407449 180407525 - 180438314 180438390 - 16381832;20224791;20300190;21199797 100423032 ABBA01027794;AL445469;AMYH02002243;NR_036067 APPROVED ncrna HGNC:38259 PROVISIONAL 4109026 MIR3120 microRNA 3120 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 145217379 145217459 + 172107948 172108028 + 172138808 172138888 + 16381832;20300190;21199797;22393045 100422882 ABBA01027921;AL137157;AMYH02002145;NR_036066 APPROVED ncrna HGNC:38295 614722 PROVISIONAL 4108964 MIR3122 microRNA 3122 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 185478036 185478108 + 212250955 212251027 + 212077613 212077685 + 16381832;20300190 100422947 ABBA01048185;AL606468;AMYH02002632;NR_036068 APPROVED ncrna HGNC:38320 PROVISIONAL 4109050 MIR3123 microRNA 3123 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 214550932 214551006 + 241295572 241295646 + 241132272 241132346 + 16381832;20300190 100422856 ABBA01033245;AL512307;AMYH02003031;NR_036069 APPROVED ncrna ENSG00000265831 HGNC:38330 PROVISIONAL 4109029 MIR3124 microRNA 3124 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 222281813 222281879 + 249120576 249120642 + 248826377 248826443 + 16381832;20224791;20300190;21199797 100422879 ABBA01002095;AL732583;AMYH02003156;NR_036070 APPROVED ncrna ENSG00000264500 HGNC:38262 PROVISIONAL 4108926 MIR3125 microRNA 3125 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 12794257 12794335 + 12877493 12877570 + 12737367 12737444 + 16381832;20300190 100422986 ABBA01015664;AC009486;AMYH02003300;NR_036072 1673728 G19140 APPROVED ncrna HGNC:38219 PROVISIONAL 4108991 MIR3127 microRNA 3127 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 91904180 91904255 + 97464015 97464090 + 96798278 96798353 + 16381832;20300190;21199797 100422928 ABBA01036579;AC092636;AMYH02004336;NR_036074 APPROVED ncrna HGNC:38269 PROVISIONAL 4108894 MIR3119-2 microRNA 3119-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 143230335 143230419 + 170120519 170120603 + 170151378 170151462 + 16381832;20300190 100423010 ABBA01027944;AL445203;AMYH02002120;NR_036065 APPROVED ncrna HGNC:38315 PROVISIONAL 4109083 MIR3128 microRNA 3128 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 171723105 171723170 - 178120673 178120738 - 177255945 177256010 - 16381832;20300190;21199797 100422824 ABBA01062231;AC079305;AMYH02005313;NR_036075 APPROVED ncrna HGNC:38188 PROVISIONAL 4109000 MIR3129 microRNA 3129 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 183592841 183592916 - 189997762 189997837 - 189133036 189133111 - 16381832;20224791;20300190;21199797 100422908 ABBA01062376;AC064833;AMYH02005425;NR_036076 APPROVED ncrna HGNC:38217 PROVISIONAL 4108899 MIR3118-1 microRNA 3118-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 4 142667289 142667363 + 131855 131929 + 16381832;20300190 100423008 AL583842;AMYH02001840;NR_036061 APPROVED ncrna HGNC:38265 PROVISIONAL 4108891 MIR3130-2 microRNA 3130-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Aug 2010] 2 2 2 201409389 201409463 + 207647958 207648032 + 206783234 206783308 + 8554872 16381832;20224791;20300190;21199797 100423002 AC008269;AMYH02005634;NR_036078 MIR3130-4 APPROVED ncrna HGNC:38363 PROVISIONAL 4108867 MIR3126 microRNA 3126 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 69181838 69181911 + 69330814 69330887 + 69103682 69103755 + 8554872 16381832;19784364;20224791;20300190;21199797 100423030 ABBA01075492;AC112230;AMYH02004016;NR_036073 APPROVED ncrna HGNC:38225 PROVISIONAL 4108927 MIR3134 microRNA 3134 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 15676943 15677016 - 15738805 15738878 - 15697298 15697371 - 8554872 16381832;20300190;23823647 100422990 ABBA01025137;AC090950;AMYH02006334;NR_036085 APPROVED ncrna HGNC:38254 PROVISIONAL 4108953 MIR3131 microRNA 3131 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 213693102 213693164 - 219923410 219923472 - 219058688 219058750 - 16381832;20300190;21199797 100422957 ABBA01023853;AC097468;AMYH02005813;NR_036081 APPROVED ncrna HGNC:38347 PROVISIONAL 4108969 MIR3133 microRNA 3133 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 236086860 236086937 + 242417320 242417397 + 241477905 241477982 + 16381832;20300190 100422942 ABBA01006047;AC005104;AMYH02006114;NR_036083 APPROVED ncrna HGNC:38305 PROVISIONAL 4108860 MIR3132 microRNA 3132 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 214183758 214183832 - 220413795 220413869 - 219549073 219549147 - 16381832;20300190 100423039 ABBA01023840;AC009955;AMYH02005823;NR_036082 1803100;1805038;1964882;1964884;1964886;1964888;1964890;1964892;1964894;1964896;1964898;1964900;1964902 ECD02441;ECD03460;REN53315;REN53316;REN53317;REN53318;REN53319;REN53320;REN53321;REN53322;REN53323;REN53324;REN53325 APPROVED ncrna ENSG00000265252 HGNC:38373 PROVISIONAL 4109006 MIR3135A microRNA 3135a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 20119676 20119752 + 20179057 20179133 + 20137565 20137641 + 6480464 16381832;20300190 100422901 ABBA01025087;AC099057;AMYH02006368;NR_036086 1706638 SHGC-82800 MIR3135;hsa-mir-3135a APPROVED ncrna HGNC:38199 PROVISIONAL 4108919 MIR3130-1 microRNA 3130-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Aug 2010] 2 2 2 201409389 201409463 - 207647958 207648032 - 206783234 206783308 - 8554872 16381832;20224791;20300190;21199797 100422993 AC008269;AMYH02005634;NR_036077 MIR3130-3 APPROVED ncrna HGNC:38275 PROVISIONAL 5133971 MIR3135B microRNA 3135b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 32717689 32717756 - 32749912 32749979 - 16381832;20733160 100616218 ABBA01038131;AL672104;AL713890;AL773543;AMYH02013474;BX296564;BX927160;CR753846;CR759848;CR936921;NR_039668 APPROVED ncrna ENSG00000263649 HGNC:41783 PROVISIONAL 4108985 MIR3137 microRNA 3137 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 6026 6100 + 194855235 194855309 - 195134506 195134580 - 16381832;20300190 100422926 ABBA01001617;AC106705;AMYH02008463;NR_036089 APPROVED ncrna HGNC:38263 PROVISIONAL 4108890 MIR3138 microRNA 3138 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 10562601 10562682 - 10080235 10080316 - 10078611 10078692 - 16381832;20224791;20300190 100423011 ABBA01032512;AC005674;AMYH02008744;NG_027876;NR_036090 APPROVED ncrna HGNC:38341 VALIDATED 4108962 MIR3141 microRNA 3141 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 150051128 150051188 - 153975572 153975632 - 154596012 154596072 - 16381832;20300190 100422950 ABBA01026233;AC112175;AMYH02012506;NR_036094 APPROVED ncrna ENSG00000264760 HGNC:38326 PROVISIONAL 4109918 MIR3143 microRNA 3143 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 28721406 28721468 + 27115405 27115467 + 27147626 27147688 + 16381832;20300190;21199797 100422934 ABBA01037988;AL021807;AMYH02013376;NR_036096 APPROVED ncrna ENSG00000265565 HGNC:38284 PROVISIONAL 4109048 MIR3136 microRNA 3136 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 69026215 69026292 - 69098109 69098186 - 69048958 69049035 - 16381832;20300190;21199797;21606961 100422859 ABBA01030898;AC109587;AMYH02007013;NR_036087 APPROVED ncrna HGNC:38340 PROVISIONAL 4109009 MIR3144 microRNA 3144 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 121080654 121080732 + 120336325 120336403 + 120015179 120015257 + 16381832;20224791;20300190 100422951 ABBA01026011;AL049613;AMYH02014383;NR_036098 APPROVED ncrna ENSG00000265725 HGNC:38331 PROVISIONAL 4108893 MIR3145 microRNA 3145 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 139496486 139496567 - 138756350 138756431 - 138435213 138435294 - 16381832;20300190;21199797 100423001 ABBA01025809;AL391669;AMYH02014579;NR_036099 APPROVED ncrna HGNC:38327 PROVISIONAL 4108942 MIR3146 microRNA 3146 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 19729282 19729360 - 19744981 19745059 - 19705358 19705436 - 16381832;20300190;21199797 100422967 ABBA01056660;AC004940;AMYH02015326;CH236948;NR_036101 APPROVED ncrna HGNC:38368 PROVISIONAL 4108880 MIR3139 microRNA 3139 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 141594540 141594615 + 144264613 144264688 + 143343460 143343535 + 16381832;20300190 100423017 ABBA01070001;AC097658;AMYH02010234;NR_036091 APPROVED ncrna HGNC:38201 PROVISIONAL 4108971 MIR3142 microRNA 3142 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 155933925 155934006 + 159901451 159901532 + 160474444 160474525 + 16381832;20300190 100422938 ABBA01044218;AC091842;AMYH02012605;NR_036095 APPROVED ncrna HGNC:38297 PROVISIONAL 4108946 MIR3150A microRNA 3150a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 92270364 92270443 + 96085142 96085221 + 95072914 95072993 + 16381832;20300190;21199797 100422964 AC068189;AMYH02018443;NR_036105 MIR3150 APPROVED ncrna HGNC:38362 PROVISIONAL 4109030 MIR3148 microRNA 3148 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 28774014 28774090 - 29814788 29814864 - 29957272 29957348 - 16381832;20300190;23468661 100422876 ABBA01023675;AC131254;AMYH02017708;NR_036104 APPROVED ncrna ENSG00000264788 HGNC:38215 PROVISIONAL 4888759 MIR3150B microRNA 3150b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 96085139 96085224 - 95072911 95072996 - 16381832;20224791;21199797;21606961 100500907 AC068189;AMYH02018443;NR_037484 APPROVED ncrna ENSG00000275241 HGNC:38938 PROVISIONAL 4109038 MIR3152 microRNA 3152 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 18499733 18499806 + 18573304 18573377 + 18573306 18573379 + 16381832;16954537;20224791;20300190;21199797 100422869 ABBA01065223;AL449963;AMYH02019248;NR_036107 APPROVED ncrna HGNC:38379 PROVISIONAL 4108972 MIR3147 microRNA 3147 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 56189292 56189357 + 57472731 57472796 + 57405025 57405090 + 16381832;20300190 100422939 ABBA01028302;AC073057;AC237221;AMYH02015778;NR_036102 APPROVED ncrna ENSG00000266168 HGNC:38300 PROVISIONAL 4109027 MIR3140 microRNA 3140 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 150734263 150734352 - 153410479 153410568 - 152489327 152489416 - 16381832;20224791;20300190;21199797;21606961 100422896 ABBA01070123;AC023424;AMYH02010309;NG_029466;NR_036092 APPROVED ncrna ENSG00000264678 HGNC:38183 VALIDATED 4109015 MIR3154 microRNA 3154 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q34 101658130 101658213 - 131007226 131007309 - 128244947 128245030 - 16381832;16954537;19784364;20300190;21606961;22454130 100422893 ABBA01043872;AL590708;AMYH02021710;NG_029726;NR_036110 APPROVED ncrna HGNC:38176 VALIDATED 4108973 MIR3153 microRNA 3153 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 62509302 62509383 + 91927140 91927221 + 89312225 89312306 + 16381832;20300190 100422936 ABBA01004612;AL160054;AMYH02021186;NR_036108 APPROVED ncrna HGNC:38289 PROVISIONAL 4108932 MIR3155A microRNA 3155a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 6123484 6123565 + 6194159 6194240 + 6152196 6152277 + 16381832;20300190 100422989 ABBA01034769;AL157395;AMYH02022055;NR_036111 MIR3155;hsa-mir-3155a APPROVED ncrna HGNC:38245 PROVISIONAL 4108924 MIR3156-1 microRNA 3156-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 41662667 41662741 + 45659462 45659536 + 45164014 45164088 + 16381832;20300190;21199797 100422988 ABBA01050025;AL358394;AMYH02022733;NR_036112 APPROVED ncrna ENSG00000263476 HGNC:38241 PROVISIONAL 4108922 MIR3151 microRNA 3151 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 100353679 100353752 + 104166842 104166917 + 103154614 103154689 + 16381832;20300190;21606961;22454130;22529287;23034410 100422992 AC025370;AMYH02018541;NR_036106 APPROVED ncrna HGNC:38266 PROVISIONAL 4108999 MIR3156-2 microRNA 3156-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 18 18 29368 29444 - 14830165 14830241 + 14830166 14830242 + 16381832;20300190;21199797 100422907 AMYH02034361;AP006565;NR_036153 APPROVED ncrna HGNC:38213 PROVISIONAL 4109895 MIR3156-3 microRNA 3156-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 14778705 14778781 - 13406384 13406460 - 16381832;20300190;21199797 100423018 ABBA01030838;AL050302;AMYH02037512;NR_036164 APPROVED ncrna ENSG00000266211 HGNC:38229 PROVISIONAL 4108868 MIR3158-2 microRNA 3158-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 97099960 97100040 - 103361174 103361254 - 101601417 101601497 - 16381832;20224791;20300190 100423033 AL627424;AMYH02023678;NR_036115 APPROVED ncrna HGNC:38279 PROVISIONAL 4109007 MIR3158-1 microRNA 3158-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 97099960 97100040 + 103361174 103361254 + 101601417 101601497 + 16381832;20224791;20300190;21199797 100422900 AL627424;AMYH02023678;NR_036114 APPROVED ncrna HGNC:38196 PROVISIONAL 4108879 MIR3159 microRNA 3159 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 11 11 37722648 37743105 + 18409334 18409407 + 18387787 18387860 + 16381832;20300190 100423016 ABBA01061057;AC084117;AMYH02024395;NR_036116 1775080 RH65993 APPROVED ncrna ENSG00000264603 HGNC:38181 VALIDATED 4109077 MIR3160-1 microRNA 3160-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 46473355 46473439 - 46451805 46451889 - 16381832;20300190;21199797 100422827 AC115097;AMYH02024702;NR_036117 APPROVED ncrna HGNC:38197 PROVISIONAL 4109076 MIR3160-2 microRNA 3160-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 46473357 46473437 + 46451807 46451887 + 16381832;20300190;21199797 100422825 AC115097;AMYH02024702;NR_036118 APPROVED ncrna HGNC:38192 PROVISIONAL 4109047 MIR3157 microRNA 3157 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 91565288 91565372 - 97824072 97824156 - 96064315 96064399 - 8554872 16381832;20300190;21199797 100422892 ABBA01021832;AL356155;AMYH02023584;NR_036113 APPROVED ncrna ENSG00000266407 HGNC:38172 PROVISIONAL 4109028 MIR3162 microRNA 3162 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 56725288 56725369 - 59362550 59362631 - 59595077 59595158 - 16381832;20300190;21199797 100422880 ABBA01021504;AMYH02024865;AP000442;NR_036120 APPROVED ncrna HGNC:38271 PROVISIONAL 4108870 MIR3163 microRNA 3163 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 64030181 64030253 - 66701905 66701977 - 66934434 66934506 - 16381832;20300190 100423029 ABBA01024058;AMYH02024983;AP003176;NR_036121 APPROVED ncrna ENSG00000266423 HGNC:38209 PROVISIONAL 4109059 MIR3164 microRNA 3164 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 66190730 66190812 + 68850644 68850726 + 69083176 69083258 + 16381832;20300190 100422846 ABBA01023972;AMYH02025032;AP003071;NR_036122 APPROVED ncrna HGNC:38288 PROVISIONAL 8549838 MIR3155B microRNA 3155b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 6194171 6194225 - 6152207 6152262 - 16381832;20733160 100628560 ABBA01034769;AL157395;AMYH02022055;NR_039698 hsa-mir-3155b ncrna HGNC:50003 PROVISIONAL 4108958 MIR3165 microRNA 3165 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 69085210 69085284 - 71783274 71783348 - 72072228 72072302 - 16381832;20300190;21199797 100422953 AMYH02025074;AP002490;NR_036123 APPROVED ncrna ENSG00000263742 HGNC:38335 PROVISIONAL 4108990 MIR3167 microRNA 3167 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 124025234 124025318 - 126858354 126858438 - 126988458 126988542 - 16381832;20195266;20224791;20300190 100422918 ABBA01022998;AMYH02025755;AP002833;NR_036126 APPROVED ncrna HGNC:38242 PROVISIONAL 4109032 MIR3168 microRNA 3168 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 22732589 22732670 - 41675155 41675236 - 41101019 41101100 - 16381832;20300190 100422878 ABBA01021281;AL161775;AMYH02027917;NR_036127 APPROVED ncrna ENSG00000264226 HGNC:38249 PROVISIONAL 4108938 MIR3169 microRNA 3169 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 42733927 42734009 - 61773932 61774014 - 61199798 61199880 - 16381832;20300190 100422973 ABBA01050229;AL627427;AMYH02028143;NR_036128 APPROVED ncrna ENSG00000266663 HGNC:38380 PROVISIONAL 4109080 MIR3172 microRNA 3172 16381832;20300190 100422822 AL132988;NR_036130 miscrna HGNC:38177 4109025 MIR3170 microRNA 3170 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 79708210 79708286 + 98860778 98860854 + 98208524 98208600 + 16381832;20300190;21199797 100422881 ABBA01027145;AL136300;AMYH02028569;NR_036129 1666330;7185243 D13S128 APPROVED ncrna ENSG00000263399 HGNC:38282 PROVISIONAL 4109063 MIR3174 microRNA 3174 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 66953087 66953173 + 90549987 90550073 + 90006755 90006841 + 16381832;20300190 100422841 ABBA01053036;AC087284;AMYH02031034;NR_036135 APPROVED ncrna ENSG00000265871 HGNC:38264 PROVISIONAL 4108931 MIR3173 microRNA 3173 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 75660375 75660442 - 95604256 95604323 - 95137919 95137986 - 16381832;20300190;21199797;22454130 100422981 ABBA01030405;AL356017;AMYH02029792;NR_036131 APPROVED ncrna ENSG00000264607 HGNC:38174 PROVISIONAL 4108920 MIR3175 microRNA 3175 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 69859482 69859558 + 93447629 93447705 + 92904399 92904475 + 16381832;20224791;20300190;21199797 100422995 ABBA01053103;AC013394;AMYH02031081;NR_036136 APPROVED ncrna HGNC:38299 PROVISIONAL 4108864 MIR3176 microRNA 3176 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 793663 793752 + 593277 593366 + 543277 543366 + 16381832;20300190;21199797 100423037 ABBA01030364;AMYH02031196;NR_036137;Z97986 APPROVED ncrna HGNC:38345 PROVISIONAL 4108884 MIR3177 microRNA 3177 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 1997260 1997341 + 1784986 1785067 + 1734985 1735066 + 16381832;20300190;21199797;21606961 100423012 ABBA01030297;AL031717;AMYH02031235;NR_036138 APPROVED ncrna HGNC:38364 PROVISIONAL 4108937 MIR3178 microRNA 3178 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 2796859 2796942 - 2581923 2582006 - 2531922 2532005 - 8554872 16381832;20300190 100422974 ABBA01030250;AC093525;AMYH02031254;NR_036139 APPROVED ncrna ENSG00000266232 HGNC:38381 PROVISIONAL 4108955 MIR3179-1 microRNA 3179-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 p13.11 14995365 14995448 + 14901508 14901591 + 16381832;20224791;20300190;21199797 100422960 AC136443;AC245049;NR_036140 APPROVED ncrna ENSG00000274301 HGNC:38353 PROVISIONAL 4108896 MIR3161 microRNA 3161 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 48270725 48270801 + 48118334 48118410 + 48096782 48096858 + 16381832;20300190 100423000 ABBA01060682;AC026975;AMYH02024750;NR_036119 APPROVED ncrna HGNC:38285 PROVISIONAL 4108861 MIR3166 microRNA 3166 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 86722341 86722432 - 87909670 87909761 + 88176502 88176593 + 16381832;20300190 100423040 AMYH02025259;AP001642;NR_036124 APPROVED ncrna ENSG00000266581 HGNC:38386 PROVISIONAL 4108888 MIR3179-3 microRNA 3179-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 p12.3 18505751 18505834 - 18411894 18411977 - 16381832;20300190;21199797 100423006 AC126755;NR_036145 APPROVED ncrna ENSG00000266454 HGNC:38214 PROVISIONAL 4109036 MIR3180-1 microRNA 3180-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 15005077 15005170 + 14911220 14911313 + 16381832;20224791;20300190;21199797 100422870 AC138932;AC245049;NR_036141 APPROVED ncrna ENSG00000265537 HGNC:38382 PROVISIONAL 4109068 MIR3180-3 microRNA 3180-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 2400446 2400539 - 18496035 18496128 - 18402178 18402271 - 16381832;20300190 100422836 AC126755;AC243651;NR_036144 APPROVED ncrna ENSG00000266291 HGNC:38239 PROVISIONAL 4109057 MIR3182 microRNA 3182 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 67843702 67843764 + 83541951 83542013 + 83508346 83508408 + 16381832;20300190 100422853 ABBA01016935;AC106814;AMYH02032542;NR_036147 APPROVED ncrna HGNC:38317 PROVISIONAL 4109069 MIR3183 microRNA 3183 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 937745 937828 - 925716 925799 - 1022476 1022559 - 16381832;20300190;21199797;21606961 100422835 ABBA01054633;AC015884;AMYH02032726;NR_036148 APPROVED ncrna HGNC:38237 PROVISIONAL 4108957 MIR3180-2 microRNA 3180-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16403736 16403823 + 16309879 16309966 + 16381832;20300190;21199797 100422956 AC138969;AC244489;NR_036142 APPROVED ncrna ENSG00000265373 HGNC:38343 PROVISIONAL 4108892 MIR3184 microRNA 3184 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 25305705 25305779 - 28444104 28444178 - 30117086 30117160 - 16381832;20300190 100423003 ABBA01015005;AC104984;AMYH02033268;NR_036149 APPROVED ncrna HGNC:38182 PROVISIONAL 4888827 MIR3180-4 microRNA 3180-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 15248707 15248859 - 15154850 15155002 - 16381832;20224791 100500852 AC126763;AC243743;NR_037466 APPROVED ncrna ENSG00000264115 HGNC:38920 PROVISIONAL 4108933 MIR3185 microRNA 3185 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 43255916 43255983 - 46801770 46801837 - 48724408 48724475 - 16381832;20300190 100422978 ABBA01041174;AC091179;AMYH02033545;NG_033789;NR_036150 APPROVED ncrna ENSG00000263602 HGNC:38391 PROVISIONAL 4109053 MIR3187 microRNA 3187 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 2556 2625 - 813584 813653 + 813584 813653 + 8554872 16381832;20300190;21199797 100422854 ABBA01002597;AC006273;AMYH02035124;NR_036154 APPROVED ncrna ENSG00000263414 HGNC:38319 PROVISIONAL 4109022 MIR3179-2 microRNA 3179-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.11 395 478 - 16394016 16394099 + 16300159 16300242 + 16381832;20300190;21199797 100422886 AC136624;AC244489;NR_036143 APPROVED ncrna ENSG00000257381 HGNC:38325 PROVISIONAL 4108966 MIR3189 microRNA 3189 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 18399201 18399273 + 18497372 18497444 + 18386562 18386634 + 16381832;20300190;21199797 100422943 ABBA01158935;AC008397;AMYH02035732;NR_036156 1793724 PMC26624P1 APPROVED ncrna HGNC:38307 PROVISIONAL 4109012 MIR3190 microRNA 3190 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 44534054 44534133 + 47730199 47730278 + 47226942 47227021 + 6480464 16381832;20300190;21606961 100422899 AC008532;AMYH02036251;NG_031991;NR_036158 APPROVED ncrna ENSG00000265134 HGNC:38190 VALIDATED 4109073 MIR3191 microRNA 3191 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 44534056 44534131 - 47730201 47730276 - 47226944 47227019 - 16381832;20300190 100422832 AC008532;AMYH02036251;NG_031991;NR_036159 APPROVED ncrna HGNC:38222 VALIDATED 4109031 MIR3192 microRNA 3192 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 18525348 18525424 + 18451259 18451335 + 18470615 18470691 + 16381832;20300190;21199797;23034410 100422875 ABBA01054047;AL121893;AMYH02036780;NR_036160 APPROVED ncrna HGNC:38202 PROVISIONAL 4108974 MIR3186 microRNA 3186 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 76065339 76065423 - 79418130 79418214 - 81451104 81451188 - 16381832;20224791;20300190 100422944 ABBA01032146;AC110285;AMYH02034128;NR_036152 APPROVED ncrna ENSG00000266189 HGNC:38311 PROVISIONAL 4109002 MIR3193 microRNA 3193 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 26951170 26951224 + 30194989 30195043 + 31607186 31607240 + 16381832;20300190 100422904 ABBA01019302;AL117381;AMYH02036899;NG_029639;NR_036161 1792656;1793442;2177493 PMC156147P2;PMC22262P1;WI-9304 APPROVED ncrna ENSG00000264395 HGNC:38204 VALIDATED 4109079 MIR3188 microRNA 3188 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 18294628 18294712 + 18392887 18392971 + 18282077 18282161 + 16381832;20300190 100422833 ABBA01051256;AC008397;AMYH02035730;NR_036155 1792618 PMC155158P1 APPROVED ncrna ENSG00000267959 HGNC:38226 PROVISIONAL 4888772 MIR3180-5 microRNA 3180-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 2185978 2186130 - 2135977 2136129 - 16381832;20224791 100500916 ABBA01030273;AC009065;AMYH02031245;NR_037467 APPROVED ncrna ENSG00000264397 HGNC:38969 PROVISIONAL 4108882 MIR3196 microRNA 3196 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 58547614 58547677 + 61870131 61870194 + 63238779 63238842 + 16381832;20300190 100423014 ABBA01021393;AL121827;AMYH02037451;NG_029552;NR_036163 APPROVED ncrna HGNC:38198 VALIDATED 4109018 MIR3194 microRNA 3194 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 46773617 46773689 - 50069442 50069514 - 51452905 51452977 - 16381832;20300190;21199797 100422889 ABBA01052796;AL035682;AMYH02037255;NR_036162 APPROVED ncrna HGNC:38346 PROVISIONAL 4108872 MIR3198-1 microRNA 3198-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 1866604 1866683 - 18246946 18247025 - 17764180 17764259 - 16381832;20300190;21199797 100423025 ABBA01001431;AC016026;AMYH02038015;NR_036168 MIR3198 APPROVED ncrna HGNC:38236 PROVISIONAL 4108874 MIR3197 microRNA 3197 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 21 27737666 27737738 + 42539484 42539556 + 41167557 41167629 + 16381832;20300190 100423023 ABBA01044666;AL773572;AMYH02037855;NR_036167 1730869 D21S398 APPROVED ncrna ENSG00000263681 HGNC:38366 PROVISIONAL 5133858 MIR3198-2 microRNA 3198-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 54625181 54625260 - 54231397 54231476 - 16381832;20300190;21199797 100616400 ABBA01008366;AC078778;AMYH02026532;NR_039851 APPROVED ncrna ENSG00000265371 HGNC:41766 PROVISIONAL 4108917 MIR3199-2 microRNA 3199-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 12116479 12116564 + 28316514 28316599 + 27920526 27920611 + 16381832;20300190 100422998 AL031591;AMYH02038179;NR_036170 APPROVED ncrna HGNC:38205 PROVISIONAL 5490447 MIR31HG MIR31 host gene (non-protein coding) 9 9 9 p21.3 21392579 21498015 - 21454267 21559697 - 21454268 21559698 - 12477932;14702039;15364902;21048943;22289355;24023261;24631686 554202 ABBA01065176;AK124391;AL137022;AL353732;AMYH02019286;AMYH02019287;AMYH02019288;BC011715;BC021861;CA440917;CH471071;HG501919;NR_027054 EAW58608 Hs.458096 1649972;1739833;1786906;1797728;2144415 D9S1751;IFNT1_2211;RH68380;SHGC-107227;SHGC-34366 RP11-354P17.9 ncrna HGNC:37187 VALIDATED 4108866 MIR3199-1 microRNA 3199-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 12116478 12116565 - 28316513 28316600 - 27920525 27920612 - 16381832;20300190 100423034 AL031591;AMYH02038179;NR_036169 APPROVED ncrna ENSG00000264073 HGNC:38294 PROVISIONAL 4108989 MIR3201 microRNA 3201 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 32584130 32584181 + 48670176 48670227 + 48274364 48274415 + 16381832;20300190;25034063 100422916 ABBA01010485;AL008720;AMYH02038558;NR_036172 APPROVED ncrna ENSG00000266508 HGNC:38235 PROVISIONAL 4109044 MIR3202-2 microRNA 3202-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 153480256 153480334 - 153246549 153246627 - 153981098 153981176 - 8554872 16381832;20300190 100422877 AMYH02040852;NR_036175;U52112 1798770;1800650;2034790;2034792;2034794;2034796;2034798;2034800;2034802;2034804;2034806;2034808;2122836;2168949 DXS6989E;ECD00225;ECD01186;REN88404;REN88405;REN88406;REN88407;REN88408;REN88409;REN88410;REN88411;REN88412;REN88413;STS-X92475 APPROVED ncrna HGNC:38228 PROVISIONAL 4108925 MIR3202-1 microRNA 3202-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 153480255 153480335 + 153246548 153246628 + 153981097 153981177 + 8554872 16381832;20300190 100422987 AMYH02040852;NR_036174;U52112 2034788;2034790;2034792;2034794 REN88403;REN88404;REN88405;REN88406 APPROVED ncrna ENSG00000265176 HGNC:38224 PROVISIONAL 2974684 MIR320B1 microRNA 320b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 115442881 115442959 + 117214371 117214449 + 116671749 116671827 + 16381832;16954537;18392026;23493781 100302117 ABBA01068493;AL356748;AMYH02001793;NR_031564 MIR320B-1;MIRN320B1;hsa-mir-320b-1 APPROVED ncrna ENSG00000211543 HGNC:35247 PROVISIONAL 4108996 MIR3200 microRNA 3200 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 14927668 14927752 + 31127544 31127628 + 30731557 30731641 + 16381832;20224791;20300190;20459774;20532037;21199797 100422912 ABBA01055306;AL022336;AMYH02038221;NR_036171 APPROVED ncrna HGNC:38227 PROVISIONAL 2974681 MIR320C1 microRNA 320c-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 16069469 16069556 + 19263471 19263558 + 21683510 21683597 + 16381832;16954537;18392026;22674437;23799850 100302135 ABBA01022677;AC106037;AMYH02034382;NR_031565 MIR320C-1;MIRN320C1;hsa-mir-320c-1 APPROVED ncrna ENSG00000221493 HGNC:35248 PROVISIONAL 2974668 MIR320C2 microRNA 320c-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 q11.2 18717951 18718000 + 21901650 21901699 + 24321686 24321735 + 16381832;18392026 100302195 ABBA01022617;AC023983;AMYH02034432;NG_029432;NR_031724 MIR320C-2;MIRN320C2;hsa-mir-320c-2 APPROVED ncrna ENSG00000212051 HGNC:35387 VALIDATED 1344856 MIR320A microRNA 320a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p21.3 21064808 21064889 - 22102475 22102556 - 22244962 22245043 - 6480464 14573789;15325244;16381832;17604727;17616659;20158877;20167074;20628061;20807887;22459450;23188675;23196978;23876508;24114198;24217767;24265291;24360278;24390663;24454819;24791633 407037 ABBA01005509;AC105206;AMYH02017589;NR_029714 MIRN320;MIRN320A;hsa-mir-320a APPROVED ncrna ENSG00000208037 HGNC:31632 614112 PROVISIONAL 3516315 MIR320B2 microRNA 320b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q42.11 197635647 197635784 - 224444706 224444843 - 224257004 224257141 - 16381832;16954537;18285502;18392026 100313769 ABBA01009703;AC092809;AMYH02002772;NG_029641;NR_031574 MIR320B-2;MIRN320B2 APPROVED ncrna HGNC:35256 VALIDATED 4108994 MIR320E microRNA 320e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.32 44016079 44016131 - 47212550 47212602 - 46709293 46709345 - 16381832;19784364;20300190 100422913 ABBA01040985;AC008635;AMYH02036235;NR_036157 APPROVED ncrna HGNC:38230 PROVISIONAL 1348727 MIR32 microRNA 32 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q31.3 82307713 82307782 - 111808509 111808578 - 109046229 109046298 - 6480464 11679670;16381832;17604727;20889907;21687927;21816906;22266859;22431589;22709905;23617834;24123284 407036 ABBA01042773;AJ421754;AL354797;AMYH02021432;NR_029506 MIRN32;hsa-mir-32;miR-32;miRNA32 APPROVED ncrna HGNC:31631 609355 PROVISIONAL 1603789 MIR323B microRNA 323b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81578588 81578667 + 101522556 101522637 + 101056219 101056300 + 6480464 15891114;16381832;17604727;20300190 574410 ABBA01048514;AL132709;AMYH02029867;NR_036133 MIR453;MIRN453;hsa-mir-453 APPROVED ncrna ENSG00000208004 HGNC:38349 PROVISIONAL 3497318 MIR320D1 microRNA 320d-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 q14.11 22359422 22359469 - 41301964 41302011 - 40727828 40727875 - 16381832;18392026;23418466;24931464 100313896 ABBA01021292;AL355132;AMYH02027907;NR_031723 2169203;2169205 A005M06;G20325 MIR320D-1;MIRN320D1 APPROVED ncrna ENSG00000211491 HGNC:35386 PROVISIONAL 2974675 MIR320D2 microRNA 320d-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 140381991 140382038 - 140008337 140008384 - 140926172 140926219 - 16381832;18392026 100302169 ABBA01023106;AL451048;AMYH02040633;NR_031725 MIR320D-2;MIRN320D2;hsa-mir-320d-2 APPROVED ncrna ENSG00000221081 HGNC:35388 PROVISIONAL 1350684 MIR325 microRNA 325 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q21.1 76505573 76505670 - 76225829 76225926 - 77005404 77005501 - 6480464 14691248;15634332;16381832;22438098;22710575;23047628 442899 ABBA01059274;AC240392;AL139192;AMYH02039806;NR_029905 MIRN325;hsa-mir-325 APPROVED ncrna ENSG00000207995 HGNC:31768 PROVISIONAL 1348331 MIR323A microRNA 323a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81548101 81548186 + 101492069 101492154 + 101025732 101025817 + 6480464 14691248;15634332;16381832;17604727;20889907;22562984;23302469 442897 ABBA01048514;AL132709;AMYH02029867;NR_029890 MIR323;MIRN323;hsa-mir-323;hsa-mir-323a APPROVED ncrna HGNC:31766 PROVISIONAL 8552608 MIR325HG MIR325 host gene (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) X X q13.3-q21.1 75878198 76234927 - 76657798 77014532 - 8554872 16344560 101928469 ABBA01059273;ABBA01059274;ABBA01059275;ABBA01059276;ABBA01059277;ABBA01059278;ABBA01059279;ABBA01059280;ABBA01059281;ABBA01059282;ABBA01059283;ABBA01059284;ABBA01059285;ABBA01059286;ABBA01059287;ABBA01059288;ABBA01059289;ABBA01059290;ABBA01059291;ABBA01059292;ABBA01059293;ABBA01059294;ABBA01059295;ABBA01059296;ABBA01059297;ABBA01059298;ABBA01059299;ABBA01059300;ABBA01059301;ABBA01059302;ABBA01059303;ABBA01059304;ABBA01059305;ABBA01059306;ABBA01059307;ABBA01059308;ABBA01059309;ABBA01059310;ABBA01059311;AC233277;AC233296;AC239601;AC240392;AK057746;AK311342;AL139192;AMYH02039802;AMYH02039803;AMYH02039804;AMYH02039805;AMYH02039806;DA217157;DA256943;DA286367;DA300762;DA388267;DA389464;DB170434;NR_110400;NR_110401;NR_110402;NR_110403;NR_110404;NR_110405;NR_110406;XR_244516;XR_250646;XR_254157;Z95328;Z98255 Hs.640805;Hs.712155 MIR384HG ncrna HGNC:50346 VALIDATED 1348110 MIR328 microRNA 328 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 q22.1 51744456 51744530 - 67236224 67236298 - 67202321 67202395 - 6480464 14691248;15634332;16381832;17604727;20211135;21098446;21219875;21373837;21448905;21881276;22241070;22351693;22447870;22453125;22564856;23034410;23077581;23991164;24305703;24318997 442901 ABBA01025432;AC040160;AMYH02032227;NR_029887 MIRN328;hsa-mir-328 APPROVED ncrna HGNC:31770 613701 PROVISIONAL 1603790 MIR329-2 microRNA 329-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81549469 81549552 + 101493437 101493520 + 101027100 101027183 + 15891114;15965474;16274478;16381832;17604727;23034410 574409 ABBA01048514;AL132709;AMYH02029867;NR_029968 MIRN329-2 APPROVED ncrna ENSG00000207762 HGNC:32051 PROVISIONAL 1351782 MIR330 microRNA 330 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.32 42948362 42948455 - 46142252 46142345 - 45638994 45639087 - 6480464 14691248;15634332;16381832;17604727;17616659;19597470;20889907;23337504;23670210 442902 ABBA01040937;AC098776;AMYH02036206;NR_029886 MIRN330;hsa-mir-330 APPROVED ncrna HGNC:31771 PROVISIONAL 1351844 MIR337 microRNA 337 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81394650 81394742 + 101340830 101340922 + 100874493 100874585 + 6480464 14691248;15634332;16381832;17604727;22723956;23065518;24422944;24641834 442905 ABBA01048517;AL117190;AMYH02029863;NR_029889 MIRN337;hsa-mir-337 APPROVED ncrna ENSG00000199151 HGNC:31774 PROVISIONAL 1348728 MIR326 microRNA 326 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q13.4 72352689 72352783 - 75046136 75046230 - 75335092 75335186 - 6480464 14691248;15634332;16381832;17604727;19838199;19883630;19955368;20667897;20889907;22069274;23142363;23292865;23302469;23341351;23869222;24279830;24675081;24792898 442900 ABBA01017469;AMYH02025113;AP000744;NG_028118;NR_029891 MIRN326;hsa-mir-326 APPROVED ncrna HGNC:31769 613755 VALIDATED 1343418 MIR324 microRNA 324 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p13.1 7151250 7151332 - 7126616 7126698 - 7223297 7223379 - 6480464;8554872 14691248;15634332;15800047;16381832;17604727;17616659 442898 ABBA01054854;AC120057;AMYH02032894;NR_029896 1648975;1778559 RH11576;SHGC-35547 MIRN324;hsa-mir-324 APPROVED ncrna HGNC:31767 PROVISIONAL 1603791 MIR329-1 microRNA 329-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81549154 81549233 + 101493122 101493201 + 101026785 101026864 + 15891114;15965474;16274478;16381832;17604727;20889907;23034410;23866847;23878390;24316513 574408 ABBA01048514;AL132709;AMYH02029867;AY882323;NR_029967 MIRN329-1 APPROVED ncrna ENSG00000207761 HGNC:32050 PROVISIONAL 1603136 MIR33B microRNA 33b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p11.2 18656623 18656718 - 17717150 17717245 - 17813836 17813931 - 6480464 16381832;16505370;17604727;20466882;21576456;22887866;23547260;23716591 693120 ABBA01009745;AC122129;AMYH02033095;NG_029029;NR_030361 1745005;1745007;5016524;5117618 GDB:592791;GDB:592797;GDB:592800;GDB:592807 MIRN33B;hsa-mir-33b APPROVED ncrna HGNC:32791 613486 VALIDATED 1349158 MIR338 microRNA 338 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q25.3 75727856 75727922 - 79099683 79099749 - 81125883 81125949 - 6480464 14691248;15634332;16381832;17604727;17616659;18684991;20574809;22903028;22912826;23124769;23380982;23599646;23758639;24140344 442906 ABBA01032125;AC115099;AMYH02034118;NG_029981;NR_029897 MIRN338;hsa-mir-338 APPROVED ncrna HGNC:31775 614059 VALIDATED 1349160 MIR331 microRNA 331 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q22 95373089 95373182 + 95702196 95702289 + 95308420 95308513 + 6480464 14691248;15634332;16381832;17604727;17616659;19584056;20510161;20889907;21971048;23817697 442903 ABBA01053339;AC084879;AMYH02026972;NR_029895 MIRN331;hsa-mir-331 APPROVED ncrna ENSG00000199172 HGNC:31772 PROVISIONAL 1348329 MIR33A microRNA 33a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q13.2 26103182 26103250 + 42296948 42297016 + 41900944 41901012 + 6480464 11679670;16381832;17604727;20466882;20566875;20732877;21576456;21743487;22315319;22325218;22333591;23261171;23458685;23547260;23625920;24015284;24100264;24468065 407039 ABBA01055655;AJ421755;AMYH02038449;NR_029507;Z99716 MIR33;MIRN33;MIRN33A;hsa-mir-33;hsa-mir-33a;miR-33;miRNA33A APPROVED ncrna HGNC:31634 612156 PROVISIONAL 1350498 MIR335 microRNA 335 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q32.2 124931728 124931821 + 130135952 130136045 + 130496111 130496204 + 6480464;8554872 14691248;15634332;16381832;17604727;17616659;21046227;21164520;21289068;21471143;21618216;21822301;22172575;22382496;22644918;22802949;22886530;23229728;23251334;23456549;23696749;23708561;23740614;23801157;23806264;23888996;23966614;23975506;24116168;24223803;24515774 442904 ABBA01057587;AC007938;AMYH02016755;CH236950;NR_029899 MIRN335;hsa-mir-335;miRNA335 APPROVED ncrna HGNC:31773 611768 PROVISIONAL 1345058 MIR339 microRNA 339 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p22.3 1030508 1030601 - 1062569 1062662 - 1022933 1023026 - 6480464 14691248;15325244;15634332;16381832;17604727;19520829;20889907;20932331;24352696 442907 ABBA01039316;AC073957;AMYH02015037;CH236965;NR_029898 1775742;2167318 SHGC-32510;STS-N27306 MIRN339;hsa-mir-339 APPROVED ncrna HGNC:31776 615977 PROVISIONAL 1348172 MIR342 microRNA 342 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 q32.2 100575992 100576090 + 100109655 100109753 + 6480464 14691248;15634332;16381832;17604727;17616659;18230126;19954774;20448109;21172025;21565830;22197249;22631664;23951060;24475217;24768587 442909 ABBA01048541;AL133523;AMYH02029847;NR_029888 MIRN342;hsa-mir-342 APPROVED ncrna HGNC:31778 PROVISIONAL 1343414 MIR345 microRNA 345 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 80828823 80828920 + 100774196 100774293 + 100307859 100307956 + 6480464 14691248;15634332;15978578;16381832;17604727;21665895;23577194 442910 ABBA01048531;AL157871;AMYH02029854;NR_029906 MIRN345;hsa-mir-345 APPROVED ncrna ENSG00000198984 HGNC:31779 PROVISIONAL 1352110 MIR340 microRNA 340 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q35.3 175067491 175067585 - 179442303 179442397 - 180015303 180015397 - 6480464 14691248;15634332;16381832;17604727;21692045;22022480;22895557;23872151 442908 ABBA01010053;AC026413;AMYH02012898;NR_029885 MIRN340;hsa-mir-340 APPROVED ncrna HGNC:31777 PROVISIONAL 1352034 MIR34B microRNA 34b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q23.1 108536852 108536935 + 111383663 111383746 + 111512938 111513021 + 6480464 12919684;16381832;17554337;17604727;18451145;18519671;19461653;19536169;19632201;20309940;20889907;20924086;21537871;21610744;21949788;21960261;21976676;22047961;22052540;22082000;22439831;22593438;22703336;22844323;23100280;23147995;23155254;23183747;23305226;23314612;23504554;23516510;23525472;23632240;23935875;24065649;24130071;24337371;24559316;24704024;24811488;24885463 407041 ABBA01039819;AMYH02025573;AP002008;NR_029839 MIRN34B;miRNA34B APPROVED ncrna HGNC:31636 611374 PROVISIONAL 1348685 MIR34C microRNA 34c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q23.1 108537353 108537429 + 111384164 111384240 + 111513439 111513515 + 6480464 12919684;16381832;17554337;17604727;18451145;18519671;19461653;19536169;19632201;20198305;20212154;20309940;20924086;21321636;21351256;21600876;21610744;21946562;21976504;21976676;22047961;22074923;22082000;22844323;23155254;23183747;23298640;23423488;23504554;23516510;23525472;23720736;23922103;23935875;24337371;24479666;24559316;24811488 407042 ABBA01039819;AMYH02025573;AP002008;NR_029840 MIRN34C;miRNA34C APPROVED ncrna HGNC:31637 611375 PROVISIONAL 5134083 MIR3591 microRNA 3591 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 56118312 56118384 - 58451080 58451152 - 16381832;21199797 100616357 ABBA01056147;AC105105;AMYH02034808;NR_039899 APPROVED ncrna HGNC:41875 PROVISIONAL 1343452 MIR34A microRNA 34a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p36.22 8321161 8321270 - 9211727 9211836 - 9151668 9151777 - 6480464 12554860;12624257;16381832;17297439;17540598;17540599;17554199;17604727;17616659;17875987;17888029;18406353;18451145;18504438;18505919;18719384;18755897;18803879;18818704;18834855;18941118;19006648;19158830;19258450;19347736;19398721;19443717;19461653;19584398;19632201;19643983;19696787;19714243;19736307;19921694;20089965;20118199;20130213;20186752;20190569;20299489;20351093;20442590;20466628;20470934;20627091;20689156;20889907;21067862;21177782;21182263;21225432;21266077;21317930;21367750;21421997;21460242;21566225;21575235;21702042;21743299;21809390;21814748;21909380;21914401;21923954;21931765;21960059;22024162;22045851;22079638;22082000;22102825;22102859;22114136;22134354;22140441;22159222;22162084;22198089;22198213;22235332;22237142;22246523;22292433;22301190;22363487;22364258;22389628;22457788;22496226;22562822;22568628;22624980;22629428;22651868;22672425;22684560;22684561;22810507;22841474;22844109;22850877;22870278;22902550;22975373;22992310;23001043;23036084;23140286;23166734;23226240;23243217;23292869;23298640;23312020;23314380;23323620;23327670;23349340;23525472;23525797;23529798;23569431;23593387;23624843;23642368;23720881;23743335;23759592;23770290;23790975;23794259;23796712;23836017;23860128;23862748;23902763;23970470;23991105;24001901;24019906;24032460;24050776;24068565;24078448;24091633;24123326;24130780;24185900;24220341;24238045;24249224;24260422;24362009;24370784;24393844;24423412;24457968;24528540;24530915;24559316;24642471;24796666;24811488;24832862 407040 ABBA01035541;AJ550399;AL591166;AMYH02000235;AY194151;EF592573;EF609116;NR_029610 Hs.730325 MIRN34A;miRNA34A;mir-34 APPROVED ncrna ENSG00000207865 HGNC:31635 611172 PROVISIONAL 1352152 MIR346 microRNA 346 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q23.2 82019715 82019809 - 88024451 88024545 - 86264694 86264788 - 6480464 12554859;14691248;15634332;16381832;19342689;20889907;21611196;22002058;22838046 442911 ABBA01033659;AL732479;AMYH02023475;NR_029907 MIRN346;hsa-mir-346;miR-346;miRNA346 APPROVED ncrna HGNC:31780 611190 PROVISIONAL 4888864 MIR3607 microRNA 3607 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 85916314 85916392 + 86620497 86620575 + 16381832;20459774 100500805 ABBA01062114;AC108110;AMYH02011740;NR_037402 APPROVED ncrna HGNC:38900 PROVISIONAL 4888828 MIR3606 microRNA 3606 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 189860356 189860418 + 188995630 188995692 + 8554872 16381832;20459774 100500837 ABBA01062370;AC066694;AMYH02005422;NR_037401 APPROVED ncrna HGNC:38881 PROVISIONAL 4888791 MIR3611 microRNA 3611 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 35368526 35368608 - 35079598 35079680 - 16381832;20459774 100500890 ABBA01033347;AL392046;AMYH02022612;NR_037405 APPROVED ncrna ENSG00000266228 HGNC:38914 PROVISIONAL 1346686 MIR361 microRNA 361 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 85398228 85398299 - 85158641 85158712 - 85903636 85903707 - 6480464 15538371;16381832;17604727;18230126;22675530;23128854;23166713;24491557 494323 ABBA01051728;AL022401;AMYH02039895;NR_029848 MIRN361;hsa-mir-361 APPROVED ncrna HGNC:31867 PROVISIONAL 5134144 MIR3529 microRNA 3529 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 89155078 89155155 - 88611847 88611924 - 16381832;21199797 100616238 ABBA01053000;AC013489;AMYH02031006;NR_039867 APPROVED ncrna HGNC:41564 PROVISIONAL 4888846 MIR3612 microRNA 3612 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 128778637 128778723 + 128294092 128294178 + 16381832;20459774 100500817 ABBA01060292;AC061709;AMYH02027525;NR_037406 APPROVED ncrna HGNC:38951 PROVISIONAL 4888847 MIR3609 microRNA 3609 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 q21.2-q22.1 98479273 98479352 + 98881650 98881729 + 16381832;20459774 100500819 ABBA01045696;AC004991;AMYH02016347;NG_030010;NR_037403 APPROVED ncrna HGNC:38956 VALIDATED 4888760 MIR3613 microRNA 3613 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 50570551 50570637 - 49996415 49996501 - 16381832;20459774 100500908 ABBA01051033;AL391993;AMYH02028018;NR_037407 APPROVED ncrna ENSG00000264864 HGNC:38964 PROVISIONAL 4888823 MIR3615 microRNA 3615 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 72744752 72744838 + 74748613 74748699 + 16381832;20459774 100500847 ABBA01028827;AC016888;AMYH02033979;NR_037409 APPROVED ncrna ENSG00000264624 HGNC:38905 PROVISIONAL 4888767 MIR3610 microRNA 3610 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 117886967 117887039 - 116874728 116874800 - 16381832;20459774 100500914 ABBA01037793;AC087350;AMYH02018659;NG_032862;NR_037404 APPROVED ncrna ENSG00000264875 HGNC:38942 VALIDATED 4888853 MIR3616 microRNA 3616 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 45795609 45795700 + 47166967 47167058 + 16381832;20459774 100500814 ABBA01052690;AL022342;AL049540;AMYH02037166;NR_037410 APPROVED ncrna HGNC:38943 PROVISIONAL 4888815 MIR3605 microRNA 3605 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 33797994 33798093 - 33332393 33332492 - 16381832;20224791;20459774 100500853 ABBA01023379;AL513327;AMYH02000733;NR_037400 APPROVED ncrna HGNC:38922 PROVISIONAL 5134844 MIR3614 microRNA 3614 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 54968631 54968716 - 56891270 56891355 - 16381832;20459774;21199797;21807764 100500827 ABBA01041307;AC015912;AMYH02033665;NR_037408 APPROVED ncrna ENSG00000265238 HGNC:38995 PROVISIONAL 4888838 MIR3619 microRNA 3619 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 46486924 46487006 + 46091044 46091126 + 16381832;20459774;21199797 100500828 ABBA01010438;AL121672;AMYH02038530;NR_037413 APPROVED ncrna ENSG00000266533 HGNC:38998 PROVISIONAL 4888807 MIR3618 microRNA 3618 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 20073269 20073356 + 20085746 20085833 + 16381832;20459774 100500860 ABBA01005395;AC006547;AMYH02038056;NR_037412 APPROVED ncrna ENSG00000266567 HGNC:38937 PROVISIONAL 4888857 MIR3620 microRNA 3620 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 228284964 228285042 + 228097263 228097341 + 16381832;20459774 100500810 ABBA01005830;AL136379;AMYH02002837;NR_037415 APPROVED ncrna HGNC:38917 PROVISIONAL 4888778 MIR3617 microRNA 3617 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 44333741 44333819 - 45705102 45705180 - 16381832;20459774;21807764 100500897 ABBA01052665;AL109656;AMYH02037152;NR_037411 APPROVED ncrna ENSG00000266071 HGNC:38977 PROVISIONAL 1604876 MIR362 microRNA 362 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53842799 53842863 + 49773572 49773636 + 50008964 50009028 + 6480464 15965474;16274478;16381832;17604727;24495516 574030 ABBA01063308;AC231645;AF222686;AMYH02039357;AY882270;NG_007159;NR_029850 MIRN362;hsa-mir-362 APPROVED ncrna HGNC:32022 PROVISIONAL 4888854 MIR3621 microRNA 3621 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 140063638 140063722 - 137169186 137169270 - 16381832;20459774 100500811 ABBA01022747;AL929554;AMYH02021925;NR_037416 APPROVED ncrna HGNC:38930 PROVISIONAL 4888798 MIR3622B microRNA 3622b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 27559190 27559284 - 27701673 27701767 - 16381832;20459774 100500871 AC013643;AMYH02017674;NR_037418 APPROVED ncrna ENSG00000265075 HGNC:38961 PROVISIONAL 4888814 MIR3622A microRNA 3622a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 27559194 27559276 + 27701677 27701759 + 16381832;20459774;21199797 100500858 AC013643;AMYH02017674;NR_037417 APPROVED ncrna HGNC:38934 PROVISIONAL 1604875 MIR363 microRNA 363 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133690241 133690315 - 133303408 133303482 - 134169378 134169452 - 6480464 15965474;16274478;16381832;17604727;22446413;23246488;23389829;23438603;23638178;23806264;23975832;24023010;24222117 574031 ABBA01042404;AC002407;AMYH02040525;AY785932;NR_029852 MIR-363;MIRN363;hsa-mir-363 APPROVED ncrna HGNC:32023 PROVISIONAL 4888851 MIR3646 microRNA 3646 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 43036760 43036843 + 44408120 44408203 + 16381832;20483914 100500813 ABBA01052642;AL132772;AMYH02037135;NR_037419 APPROVED ncrna HGNC:38935 PROVISIONAL 4888859 MIR3647 microRNA 3647 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832;20483914 100500806 AC106804;NR_037420 miscrna HGNC:38903 PROVISIONAL 4888813 MIR3648-1 microRNA 3648-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 9825832 9826011 + 8986999 8987178 + 16381832;20483914 100500862 AMYH02037503;CR392039;NR_037421 MIR3648 APPROVED ncrna ENSG00000264462 HGNC:38941 PROVISIONAL 4888848 MIR3649 microRNA 3649 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 1769481 1769546 - 1660315 1660380 - 16381832;20483914 100500816 ABBA01048821;AC005183;AMYH02025875;NR_037422 APPROVED ncrna ENSG00000266043 HGNC:38948 PROVISIONAL 4888762 MIR3651 microRNA 3651 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 95054740 95054829 - 92292458 92292547 - 16381832;20483914;24452363 100500918 ABBA01018584;AL136097;AMYH02021220;NR_037424 APPROVED ncrna HGNC:38897 PROVISIONAL 4888842 MIR3650 microRNA 3650 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 38557604 38557663 - 38557502 38557561 - 16381832;20483914 100500824 ABBA01024201;AC091823;AMYH02011191;NR_037423 APPROVED ncrna ENSG00000265304 HGNC:38981 PROVISIONAL 4888835 MIR3653 microRNA 3653 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 29729147 29729256 - 29333158 29333267 - 8554872 16381832;20483914 100500833 ABBA01055261;AC002059;AMYH02038199;NR_037426 APPROVED ncrna HGNC:38971 PROVISIONAL 5134845 MIR3654 microRNA 3654 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 132719620 132719675 - 133034860 133034915 - 6480464 16381832;20483914 100500804 H3BRB1 ABBA01001100;AC008038;AMYH02016787;NR_037427 APPROVED ncrna HGNC:38896 PROVISIONAL 4888782 MIR3657 microRNA 3657 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 112475403 112475519 - 112037599 112037715 - 16381832;20483914 100500889 ABBA01019917;AC073575;AMYH02027214;NR_037430 APPROVED ncrna HGNC:38906 PROVISIONAL 4888824 MIR3652 microRNA 3652 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 104324203 104324333 + 103930425 103930555 + 16381832;20483914 100500842 ABBA01053210;AC078819;NR_037425 APPROVED ncrna HGNC:38894 PROVISIONAL 4888862 MIR3659 microRNA 3659 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 38554903 38555001 + 38089231 38089329 + 16381832;20532037;21199797 100500801 ABBA01023247;AL139158;AMYH02000812;NR_037432 APPROVED ncrna ENSG00000265596 HGNC:38882 PROVISIONAL 4888826 MIR3656 microRNA 3656 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 118889654 118889722 + 119018944 119019012 + 16381832;20483914 100500840 ABBA01039681;AMYH02025659;AP003392;NR_037429 APPROVED ncrna HGNC:38889 PROVISIONAL 4888841 MIR3658 microRNA 3658 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 165877158 165877213 + 165907921 165907976 + 16381832;20483914 100500832 ABBA01047272;AL358115;AMYH02002070;NR_037431 APPROVED ncrna HGNC:38963 PROVISIONAL 2290203 MIR365A microRNA 365a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.12 14579263 14579349 + 14403142 14403228 + 14309285 14309371 + 15735639;15965474;16381832;17604727;17616659;19883314;21518763;21640710;22072615;22185756;23507558;23514750;24153013;24216611;24374827 100126355 ABBA01006884;AC040173;AMYH02031540;AY882279;NR_029854 MIR365-1;MIRN365-1;hsa-mir-365a APPROVED ncrna HGNC:33692 614735 PROVISIONAL 2290202 MIR365B microRNA 365b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q11.2 26822194 26822304 + 29902430 29902540 + 31575411 31575521 + 6480464 15735639;15965474;16381832;17604727;17616659;19144710;19883314;23660406 100126356 ABBA01014956;AC003101;AMYH02033303;NR_029856 MIR365-2;MIRN365-2;hsa-mir-365b APPROVED ncrna ENSG00000199187 HGNC:33693 PROVISIONAL 4888840 MIR3660 microRNA 3660 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 89312438 89312537 - 90016621 90016720 - 16381832;20532037;21199797 100500825 ABBA01062149;AC010599;AMYH02011769;NR_037433 APPROVED ncrna ENSG00000264342 HGNC:38985 PROVISIONAL 4888766 MIR3661 microRNA 3661 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 133561448 133561543 + 134225757 134225852 + 16381832;20532037;21199797 100500905 ABBA01068763;AC104109;AMYH02012239;NR_037434 APPROVED ncrna ENSG00000266751 HGNC:38892 PROVISIONAL 8661442 MIR3663HG MIR3663 host gene (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 q25.3 118916495 118928553 - 117146294 117169042 - 8554872 101927704 AA995142;ABBA01062948;ABBA01062949;AL731557;AMYH02023881;AMYH02023882;AW627937;BC039338;HY017741;NR_121650;NR_121651;XR_246188;XR_247587;XR_252819;XR_424167;XR_428816;XR_432653 Hs.342943;Hs.623813 ncrna HGNC:50676 VALIDATED 4888844 MIR3655 microRNA 3655 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 140027429 140027511 + 140647844 140647926 + 16381832;20483914 100500820 ABBA01026423;AC116353;AMYH02012340;NR_037428 APPROVED ncrna HGNC:38960 PROVISIONAL 4888777 MIR3663 microRNA 3663 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 q25.3 118927189 118927285 - 117167678 117167774 - 16381832;20498841;20532037 100500893 ABBA01062948;AL731557;AMYH02023881;NR_037436 APPROVED ncrna ENSG00000266782 HGNC:38958 PROVISIONAL 4888809 MIR3665 microRNA 3665 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 78272147 78272251 - 77698012 77698116 - 15735639;16381832;20559549 100500861 ABBA01021668;AL354831;AMYH02028322;NR_037438 APPROVED ncrna ENSG00000266325 HGNC:38939 PROVISIONAL 4888822 MIR3664 microRNA 3664 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 70718375 70718473 - 70872270 70872368 - 16381832;20532037;21199797 100500844 ABBA01010315;AMYH02025057;AP003783;NR_037437 APPROVED ncrna HGNC:38899 PROVISIONAL 4888866 MIR3666 microRNA 3666 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 114293400 114293510 + 114653345 114653455 + 15735639;16381832;20559549 100500896 ABBA01057827;AC020606;AMYH02016606;NR_037439 APPROVED ncrna HGNC:38940 PROVISIONAL 1343543 MIR367 microRNA 367 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q25 110863123 110863190 - 113569030 113569097 - 112647874 112647941 - 15183728;16274478;16381832;17604727;20889907;21720384;21810988;22835608;23185040;23393343;24012110;24220856 442912 ABBA01063816;AC106864;AMYH02009938;NG_032779;NR_029860 MIRN367;hsa-mir-367 APPROVED ncrna ENSG00000199169 HGNC:31781 614600 VALIDATED 4888788 MIR3662 microRNA 3662 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 135300476 135300570 - 134979338 134979432 - 8554872 16381832;20532037 100500880 ABBA01025846;AL445190;AMYH02014542;NR_037435 APPROVED ncrna HGNC:38983 PROVISIONAL 4888790 MIR3667 microRNA 3667 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 49937041 49937114 - 49543393 49543466 - 16381832;20459673 100500882 AMYH02038578;NR_037440;Z97192 APPROVED ncrna ENSG00000264139 HGNC:38990 PROVISIONAL 4888789 MIR3668 microRNA 3668 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 140526389 140526463 + 140205252 140205326 + 16381832;20459673 100500879 ABBA01025778;AL022477;AL589904;AMYH02014609;NR_037441 APPROVED ncrna ENSG00000263514 HGNC:38982 PROVISIONAL 4888816 MIR3671 microRNA 3671 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 65523438 65523525 - 65057755 65057842 - 16381832;20459673 100500854 ABBA01074551;AL357078;AMYH02001175;NR_037443 APPROVED ncrna ENSG00000265996 HGNC:38925 PROVISIONAL 4888794 MIR3675 microRNA 3675 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 17185444 17185516 - 16858949 16859021 - 16381832;20459673 100500876 ABBA01010786;AMYH02000387;BX284668;NR_037446 APPROVED ncrna ENSG00000263811 HGNC:38973 PROVISIONAL 4888799 MIR3672 microRNA 3672 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 120504826 120504907 + 121370972 121371053 + 16381832;20459673 100500869 ABBA01036116;AC007486;AMYH02040376;NR_037444 APPROVED ncrna ENSG00000265456 HGNC:38957 PROVISIONAL 4888852 MIR3677 microRNA 3677 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 2320714 2320773 + 2270713 2270772 + 16381832;20459673;21199797 100500812 ABBA01030267;AC009065;AMYH02031249;NR_037448 APPROVED ncrna ENSG00000266643 HGNC:38932 PROVISIONAL 4888865 MIR3676 microRNA 3676 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 8090493 8090577 + 16381832;20459673 100500892 ABBA01054901;AC129492;AMYH01008088;NR_037447 APPROVED miscrna ENSG00000266638 HGNC:38927 PROVISIONAL 4888829 MIR3678 microRNA 3678 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 73402150 73402243 + 75406069 75406162 + 16381832;20459673 100500841 ABBA01028798;AC011933;AMYH02033995;NR_037449 APPROVED ncrna ENSG00000264511 HGNC:38891 PROVISIONAL 5686447 MIR3680-1 microRNA 3680-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 21517370 21517456 - 21506049 21506135 - 16381832;20459673 100500917 AC005632;AC241400;NR_037451 MIR3680;hsa-mir-3680-1 ncrna ENSG00000265462 HGNC:38989 PROVISIONAL 4888756 MIR3674 microRNA 3674 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 1749291 1749358 + 1801125 1801192 + 16381832;20459673 100500912 ABBA01016745;AC100810;AMYH02017230;NR_037445 APPROVED ncrna HGNC:38915 PROVISIONAL 6483903 MIR3680-2 microRNA 3680-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 29610500 29610586 - 29599179 29599265 - 16381832;20459673 100847041 AC009086;AC243806;NR_049833 ncrna ENSG00000266758 HGNC:43472 PROVISIONAL 4888787 MIR3681 microRNA 3681 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 12339256 12339327 + 12199130 12199201 + 16381832;20459673 100500884 ABBA01015660;AC019090;AMYH02003296;NR_037452 APPROVED ncrna ENSG00000264089 HGNC:38994 PROVISIONAL 6483881 MIR3670-2 microRNA 3670-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 p13.11 16400227 16400291 + 16306370 16306434 + 16381832;20459673 100846994 AC138969;AC244489;NR_049832 ncrna ENSG00000264722 HGNC:43460 PROVISIONAL 5134846 MIR3670-1 microRNA 3670-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 p13.11 15001574 15001638 + 14907717 14907781 + 16381832;20459673 100500910 AC138932;AC245049;NR_037442 MIR3670;hsa-mir-3670-1 APPROVED ncrna ENSG00000263918 HGNC:38997 PROVISIONAL 4888800 MIR3684 microRNA 3684 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 99918538 99918611 + 98997387 98997460 + 16381832;20459673 100500867 ABBA01063668;AC019131;AMYH02009795;NR_037455 APPROVED ncrna HGNC:38950 PROVISIONAL 4888861 MIR3685 microRNA 3685 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 95703699 95703760 + 95309923 95309984 + 16381832;20459673 100500802 ABBA01053339;AC084879;AMYH02026972;NR_037456 APPROVED ncrna ENSG00000265917 HGNC:38886 PROVISIONAL 4888784 MIR3683 microRNA 3683 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7106595 7106676 - 7066964 7067045 - 16381832;20459673 100500886 ABBA01056513;AC092104;AMYH02015186;NR_037454 APPROVED ncrna ENSG00000266287 HGNC:38999 PROVISIONAL 4888834 MIR3686 microRNA 3686 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 130496303 130496388 - 129484057 129484142 - 16381832;20459673 100500839 ABBA01037969;AC011257;AMYH02018777;NR_037457 APPROVED ncrna ENSG00000263763 HGNC:38887 PROVISIONAL 4888863 MIR3687-1 microRNA 3687-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 9826203 9826263 + 8987370 8987430 + 16381832;20459673 100500815 AMYH02037503;CR392039;NR_037458 MIR3687 APPROVED ncrna ENSG00000264063 HGNC:38946 PROVISIONAL 4888786 MIR3688-1 microRNA 3688-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 160049954 160050046 - 159128802 159128894 - 16381832;20459673;21199797 100500881 ABBA01070217;AC095064;AMYH02010383;NR_037459 MIR3688 APPROVED ncrna ENSG00000264105 HGNC:38986 PROVISIONAL 4888792 MIR3679 microRNA 3679 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 134884696 134884763 + 134127125 134127192 + 16381832;20224791;20459673;21199797 100500878 ABBA01028195;AC115625;AMYH02004828;NR_037450 APPROVED ncrna ENSG00000263813 HGNC:38979 PROVISIONAL 4888763 MIR3689B microRNA 3689b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 137741971 137742118 - 134850125 134850272 - 16381832;20224791 100500906 AL603650;AMYH02021858;NR_037469 APPROVED ncrna ENSG00000264163 HGNC:38924 PROVISIONAL 5134109 MIR3688-2 microRNA 3688-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 160049957 160050043 + 159128805 159128891 + 16381832;21199797 100616303 ABBA01070217;AC095064;AMYH02010383;NR_039963 APPROVED ncrna HGNC:41735 PROVISIONAL 4888818 MIR3682 microRNA 3682 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 54076259 54076342 - 53849122 53849205 - 8554872 16381832;20459673;21199797 100500850 ABBA01075240;AC008068;AMYH02003838;NR_037453 APPROVED ncrna HGNC:38916 PROVISIONAL 1348667 MIR369 microRNA 369 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81587997 81588066 + 101531935 101532004 + 101065598 101065667 + 6480464 15183728;15891114;16274478;16381832;17604727;18048652;20810544;21660946;21709374 442914 ABBA01048514;AL132709;AMYH02029867;NR_029862 MIR369-3;MIRN369;MIRN369-3;hsa-mir-369 APPROVED ncrna ENSG00000199025 HGNC:31783 611794 PROVISIONAL 5134013 MIR3689D1 microRNA 3689d-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 137741455 137741528 - 134849609 134849682 - 16381832;20733160 100616131 AL603650;AMYH02021858;NR_039693 APPROVED ncrna ENSG00000265848 HGNC:41621 PROVISIONAL 5133974 MIR3689F microRNA 3689f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 137742588 137742653 - 134850742 134850807 - 16381832;20733160 100616212 ABBA01030015;AL603650;AMYH02021858;NR_039696 APPROVED ncrna ENSG00000266514 HGNC:41702 PROVISIONAL 4888820 MIR3689A microRNA 3689a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 137741333 137741410 - 134849487 134849564 - 16381832;20224791;20459673 100500846 AL603650;AMYH02021858;NR_037460 APPROVED ncrna ENSG00000265872 HGNC:38904 PROVISIONAL 5133893 MIR3689E microRNA 3689e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 137742416 137742487 - 134850570 134850641 - 16381832;20733160 100616460 ABBA01030015;AL603650;AMYH02021858;NR_039695 APPROVED ncrna ENSG00000266827 HGNC:41887 PROVISIONAL 5133928 MIR3689C microRNA 3689c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 137741144 137741215 - 134849298 134849369 - 16381832;20733160 100616333 ABBA01030015;AL603650;NR_039691 APPROVED ncrna ENSG00000264744 HGNC:41816 PROVISIONAL 5133924 MIR3689D2 microRNA 3689d-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 137742123 137742202 - 134850277 134850356 - 16381832;20733160 100616344 AL603650;AMYH02021858;NR_039694 APPROVED ncrna ENSG00000264136 HGNC:41846 PROVISIONAL 4888774 MIR3690 microRNA 3690 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X;Y X;Y p22.32 and Yp11.3 1412811 1412885 + 1293918 1293992 + 16381832;20459673 100500894 ABBA01055740;BX649553;NR_037461 MIR3690-1;MIR3690-2;hsa-mir-3690-1;hsa-mir-3690-2 APPROVED ncrna HGNC:38967 PROVISIONAL 4888770 MIR3691 microRNA 3691 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 5148467 5148556 - 5148233 5148322 - 16381832;20459673;21199797 100500900 ABBA01022006;AL035653;AMYH02013030;NR_037462 APPROVED ncrna HGNC:38909 PROVISIONAL 4888773 MIR3692 microRNA 3692 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 157950164 157950232 + 157529132 157529200 + 16381832;20459673 100500899 ABBA01021116;AL450328;AMYH02014828;NR_037463 APPROVED ncrna HGNC:38885 PROVISIONAL 8550269 MIR3690-2 microRNA 3690-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16381832;20459673 102465681 BX649553;NR_106966 hsa-mir-3690-2 ncrna HGNC:50218 PROVISIONAL 4888812 MIR3713 microRNA 3713 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 76878988 76879032 + 76586647 76586691 + 16381832;20466808 100500855 ABBA01060553;AC015798;AMYH02030836;NR_037464 APPROVED ncrna ENSG00000266449 HGNC:38926 PROVISIONAL 5134168 MIR371B microRNA 371b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 54290931 54290996 - 53787677 53787742 - 16381832;21199797 100616185 ABBA01068200;AC008753;AMYH02036431;NR_039909 APPROVED ncrna HGNC:41863 PROVISIONAL 4888757 MIR3714 microRNA 3714 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 16974688 16974752 + 16933196 16933260 + 16381832;20466808 100500913 ABBA01025127;AC090943;AMYH02006346;NR_037465 APPROVED ncrna HGNC:38928 PROVISIONAL 1353102 MIR374A microRNA 374a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q13.2 73790587 73790658 - 73507121 73507192 - 74287286 74287357 - 6480464 15183728;16274478;16381832;17604727;17616659;21748820;23321667;23405235;23679262;24053186 442919 ABBA01059585;AC004386;AMYH02039776;NR_030785 MIRN374;MIRN374A;hsa-mir-374 APPROVED ncrna HGNC:31788 PROVISIONAL 2290238 MIR374B microRNA 374b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q13.2 73721851 73721922 - 73438382 73438453 - 74218547 74218618 - 6480464 16381832;16954537;17604727;17616659;23405235;24191917 100126317 ABBA01059591;AC004386;AMYH02039775;NR_030620 2151527 RH68565 MIRN374B APPROVED ncrna HGNC:33665 PROVISIONAL 1343857 MIR370 microRNA 370 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81431308 81431382 + 101377476 101377550 + 100911139 100911213 + 6480464 15183728;16274478;16381832;17604727;17621267;20167074;21666718;22587332;22900969;23029264;23034410;23077663;23110045;23333300;23576572;23721824;23728999 442915 ABBA01048514;AL117190;AMYH02029865;NR_029863 MIRN370;hsa-mir-370 APPROVED ncrna ENSG00000199005 HGNC:31784 612553 PROVISIONAL 4888858 MIR374C microRNA 374c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 73438384 73438453 + 74218549 74218618 + 16381832;20459774 100500807 ABBA01059591;AC004386;AMYH02039775;NR_037511 APPROVED ncrna HGNC:38907 PROVISIONAL 1348680 MIR376A1 microRNA 376a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81563176 81563243 + 101507119 101507186 + 101040782 101040849 + 6480464 15891114;16274478;16381832;17322061;17604727;21556037;22747855;23373993;24358205 494325 ABBA01048514;AL132709;AMYH02029867;AY785912;NR_029868 MIR376A-1;MIRN376A;MIRN376A-1;MIRN376A1 microrna 376a APPROVED ncrna HGNC:31869 610959 PROVISIONAL 1350950 MIR372 microRNA 372 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51332225 51332291 + 54291144 54291210 + 53787890 53787956 + 6480464 15183728;16381832;17604727;17695719;20889907;21490602;21608007;21646351;22451061;22456107;22848681;23034410;23291979;23298385;24012110;24201333 442917 ABBA01068200;AC008753;AMYH02036431;NR_029865 MIRN372;hsa-mir-372 APPROVED ncrna ENSG00000199095 HGNC:31786 612044 PROVISIONAL 1346361 MIR371A microRNA 371a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51332010 51332076 + 54290929 54290995 + 53787675 53787741 + 6480464 15183728;16381832;17604727;17695719;20209130;21624813;21660946;22848681;23466643;24012110;24201333 442916 ABBA01068200;AC008753;AMYH02036431;NR_029864 MIR371;MIRN371;hsa-mir-371;hsa-mir-371a APPROVED ncrna ENSG00000199031 HGNC:31785 612043 PROVISIONAL 1350507 MIR373 microRNA 373 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51333038 51333106 + 54291959 54292027 + 53788705 53788773 + 6480464 15183728;16381832;17604727;17695719;18227514;19138993;19501585;19851984;20732906;21086164;21165562;21481188;21608007;21706058;22158050;22848681;22876037;23238818;23461063;23857777;24012110;24201333;24709321 442918 ABBA01068200;AC008753;AMYH02036431;NR_029866 MIRN373;hsa-mir-373;miRNA373 APPROVED ncrna ENSG00000199143 HGNC:31787 611954 PROVISIONAL 1606045 MIR376A2 microRNA 376a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81562463 81562542 + 101506406 101506485 + 101040069 101040148 + 15891114;16381832;17322061;17604727;22282338 664615 ABBA01048514;AL132709;AMYH02029867;NR_030266 MIR376A-2;MIRN376A-2;MIRN376A2 APPROVED ncrna HGNC:32532 610960 PROVISIONAL 1603783 MIR376B microRNA 376b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81562830 81562929 + 101506773 101506872 + 101040436 101040535 + 6480464 15891114;16381832;17322061;17604727;22282338;22456620 574435 ABBA01048514;AL132709;AMYH02029867;NR_030157 MIRN376B APPROVED ncrna ENSG00000277780 HGNC:32066 610961 PROVISIONAL 1346759 MIR376C microRNA 376c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81562084 81562149 + 101506027 101506092 + 101039690 101039755 + 6480464 15183728;15891114;16381832;17322061;17604727;21224400;22282338;22747855;22927033;23631646;24216752 442913 ABBA01048514;AL132709;AMYH02029867;NR_029861 MIR368;MIRN368;MIRN376C;hsa-mir-368;miRNA368 APPROVED ncrna HGNC:31782 610983 PROVISIONAL 1342565 MIR377 microRNA 377 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81584448 81584516 + 101528387 101528455 + 101062050 101062118 + 6480464 15891114;16274478;16381832;17604727;18716028;21106538;24312401 494326 ABBA01048514;AL132709;AMYH02029867;AY882333;NR_029869 MIRN377;hsa-mir-377 APPROVED ncrna HGNC:31870 PROVISIONAL 1345165 MIR375 microRNA 375 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q35 213636080 213636143 - 219866367 219866430 - 219001645 219001708 - 6480464 15538371;16381832;17604727;20226166;20467341;20548334;20978187;21343377;21533613;21593139;21673684;21723283;21753766;21813472;21856745;21953071;22031094;22056881;22172490;22302717;22377847;22469014;22508479;22519435;22752059;22987659;23103713;23206448;23259291;23301089;23552692;23581226;23685355;23696927;23778521;23835407;23864342;24120394;24166096;24173286;24404590;24440701;24680681 494324 ABBA01023853;AC097468;AMYH02005811;NR_029867 MIRN375;hsa-mir-375;miRNA375 APPROVED ncrna HGNC:31868 611173 PROVISIONAL 4109041 MIR378C microRNA 378c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 126432544 126432624 - 132760851 132760931 - 130962588 130962668 - 16381832;19784364 100422867 ABBA01012977;AL607076;AMYH02024050;NR_036180 APPROVED ncrna ENSG00000264803 HGNC:38374 PROVISIONAL 5133854 MIR378D2 microRNA 378d-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 94928250 94928347 - 93916022 93916119 - 16381832;16954537;20733160 100616169 ABBA01037444;AC084346;AMYH02018421;NR_039602 APPROVED ncrna ENSG00000276513 HGNC:41797 PROVISIONAL 5133875 MIR378E microRNA 378e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 169455492 169455570 + 170028488 170028566 + 16381832;20733160 100616498 ABBA01044102;AC026695;AMYH02012713;NR_039609 APPROVED ncrna HGNC:41671 PROVISIONAL 5133879 MIR378F microRNA 378f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 24255560 24255637 + 23929070 23929147 + 16381832;20733160 100616492 ABBA01059893;AL590609;AMYH02000514;NR_039615 APPROVED ncrna ENSG00000264926 HGNC:41686 PROVISIONAL 5133934 MIR378G microRNA 378g microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 95211416 95211456 - 94745860 94745900 - 16381832;20733160 100616321 ABBA01045504;AC093429;AMYH02001509;NR_039620 APPROVED ncrna ENSG00000263526 HGNC:41785 PROVISIONAL 5133940 MIR378H microRNA 378h microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 154209018 154209100 + 154829458 154829540 + 16381832;20733160 100616306 ABBA01026222;AC112169;AMYH02012511;NR_039667 APPROVED ncrna ENSG00000263361 HGNC:41744 PROVISIONAL 1345940 MIR378A microRNA 378a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q32 145193831 145193896 + 149112388 149112453 + 149732825 149732890 + 6480464 15325244;15538371;16381832;17604727;18077375;19844573;20889127;20889907;21242960;22052152;22440013;22454525;22469014;22649192;23135265;23333942;23582927;23617628;24068033;24326420;24412052;24423916;24680769 494327 ABBA01026297;AC022100;AMYH02012449;NR_029870 MIR378;MIRN378;hsa-mir-378;hsa-mir-378a;miRNA378 APPROVED ncrna HGNC:31871 611957 PROVISIONAL 4108977 MIR378B microRNA 378b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 10307718 10307774 + 10371913 10371969 + 10330229 10330285 + 16381832;20300190 100422933 ABBA01020379;AC022384;AMYH02006256;NR_036084 1666180;2140731;2144337;2157536 D3S3903;D3S3990;G10673;SHGC-76702 APPROVED ncrna HGNC:38283 PROVISIONAL 1350037 MIR380 microRNA 380 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81547386 81547446 + 101491354 101491414 + 101025017 101025077 + 6480464 15310658;15538371;16381832;17604727;20871609 494329 ABBA01048514;AL132709;AMYH02029867;NR_029872 MIR380-3p;MIRN380;hsa-mir-380 APPROVED ncrna HGNC:31873 613654 PROVISIONAL 1346769 MIR381 microRNA 381 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81568314 81568388 + 101512257 101512331 + 101045920 101045994 + 6480464 16274478;16381832;17604727;20167074;20889907;21435336;22282338;22592211;23816136;24303078;24404152 494330 ABBA01048514;AL132709;AMYH02029867;AY785922;NR_029873 MIRN381;hsa-mir-381 APPROVED ncrna HGNC:31874 PROVISIONAL 5133956 MIR378I microRNA 378i microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 42319226 42319301 - 41923222 41923297 - 16381832;20733160 100616259 ABBA01055656;AMYH02038449;NR_039760;Z99716 APPROVED ncrna ENSG00000263463 HGNC:41620 PROVISIONAL 1350207 MIR381HG MIR381 host gene (non-protein coding) 14 q32.31 101045157 101051795 + 378881 ABBA01048514;AL132709;AMYH02029867;HG506629;NR_104192 Hs.451159 C14orf89;NCRNA00225;RP11-909M7.2 APPROVED ncrna ENSG00000258861 HGNC:20136 VALIDATED 1343561 MIR382 microRNA 382 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81576704 81576779 + 101520643 101520718 + 101054306 101054381 + 6480464 15891114;16274478;16381832;17604727;20716515;23542694 494331 ABBA01048514;AL132709;AMYH02029867;NR_029874 MIRN382;hsa-mir-382 APPROVED ncrna HGNC:31875 PROVISIONAL 8550275 MIR378J microRNA 378j microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 37614931 37615039 - 16381832;22454130 102465136 ABBA01001362;AC091199;AC243585;NR_106744 hsa-mir-378j ncrna HGNC:49979 PROVISIONAL 4888761 MIR3908 microRNA 3908 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 124020956 124021081 + 123536409 123536534 + 16381832;20224791 100500909 ABBA01060400;AC055713;AC246790;NR_037470 APPROVED ncrna ENSG00000266655 HGNC:38991 PROVISIONAL 4888831 MIR3907 microRNA 3907 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 151130575 151130725 - 151433489 151433639 - 8554872 16381832;20224791 100500835 ABBA01035154;AC005996;AMYH02017074;NR_037468 APPROVED ncrna HGNC:38988 PROVISIONAL 4888839 MIR3909 microRNA 3909 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 35731633 35731751 + 35335640 35335758 + 16381832;20224791;20498841 100500826 ABBA01055413;AL008635;AMYH02038299;NR_037471 APPROVED ncrna HGNC:38987 PROVISIONAL 4888843 MIR3910-1 microRNA 3910-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 94398533 94398643 + 91636251 91636361 + 16381832;20224791 100500821 AL159999;AMYH02021209;NR_037472 APPROVED ncrna ENSG00000266855 HGNC:38966 PROVISIONAL 4888768 MIR3910-2 microRNA 3910-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 94398546 94398627 - 91636264 91636345 - 16381832;20224791 100500902 AL159999;AMYH02021209;NR_037489 APPROVED ncrna HGNC:38952 PROVISIONAL 4888796 MIR3911 microRNA 3911 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 130452966 130453074 - 127690687 127690795 - 16381832;20224791;21199797 100500872 ABBA01043840;AL162426;AMYH02021693;NR_037473 APPROVED ncrna ENSG00000264329 HGNC:38962 PROVISIONAL 1350916 MIR379 microRNA 379 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81544435 81544501 + 101488403 101488469 + 101022066 101022132 + 6480464 15538371;15891114;16274478;16381832;17604727;23874748 494328 ABBA01048514;AL132709;AMYH02029867;AY882324;NR_029871 MIRN379;hsa-mir-379 APPROVED ncrna HGNC:31872 PROVISIONAL 5133984 MIR378D1 microRNA 378d-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 5925002 5925055 - 5923275 5923328 - 16381832;20733160 100616201 ABBA01008268;AC092442;AMYH02008659;NR_039608 APPROVED ncrna ENSG00000263631 HGNC:41550 PROVISIONAL 1348316 MIR383 microRNA 383 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p22 13675794 13675866 - 14710947 14711019 - 14853438 14853510 - 6480464 15538371;16381832;17604727;21368870;21785829;23034410;23157748;23227829;23564324;23594818 494332 ABBA01021609;AC084838;AMYH02017497;NR_029875 MIRN383;hsa-mir-383 APPROVED ncrna HGNC:31876 PROVISIONAL 4888837 MIR3912 microRNA 3912 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 170813660 170813764 - 171386656 171386760 - 16381832;20224791;23034410 100500831 ABBA01044080;AC091980;AMYH02012733;NR_037474 APPROVED ncrna ENSG00000264249 HGNC:38923 PROVISIONAL 4888765 MIR3913-1 microRNA 3913-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 69978502 69978603 - 69584722 69584823 - 16381832;20224791;21199797 100500903 AC018921;AMYH02026713;NR_037475 APPROVED ncrna ENSG00000264405 HGNC:38884 PROVISIONAL 4888805 MIR3913-2 microRNA 3913-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 69978503 69978602 + 69584723 69584822 + 16381832;20224791 100500868 AC018921;AMYH02026713;NR_037476 APPROVED ncrna HGNC:38953 PROVISIONAL 4888833 MIR3914-1 microRNA 3914-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 70772658 70772756 - 71307672 71307770 - 16381832;20224791;21199797 100500836 ABBA01064021;AC079398;AMYH02015996;NR_037477 APPROVED ncrna ENSG00000265878 HGNC:38993 PROVISIONAL 4888771 MIR3914-2 microRNA 3914-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 70772660 70772754 + 71307674 71307768 + 16381832;20224791;21199797 100500920 ABBA01064021;AC079398;AMYH02015996;NR_037479 APPROVED ncrna HGNC:38975 PROVISIONAL 4888755 MIR3915 microRNA 3915 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 32601773 32601869 - 32583656 32583752 - 16381832;20224791 100500915 ABBA01073181;AC004468;AMYH02039141;NR_037478 APPROVED ncrna HGNC:38955 PROVISIONAL 4888819 MIR3916 microRNA 3916 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 247365269 247365362 - 247201967 247202060 - 16381832;20224791 100500849 ABBA01031782;AL390728;AMYH02003132;NR_037480 APPROVED ncrna ENSG00000263568 HGNC:38912 PROVISIONAL 4888856 MIR3917 microRNA 3917 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 26232853 26232945 - 25906362 25906454 - 16381832;20224791 100500808 ABBA01034887;AL033528;AMYH02000549;NR_037481 APPROVED ncrna ENSG00000264021 HGNC:38911 PROVISIONAL 1344923 MIR384 microRNA 384 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q21.1 76419440 76419527 - 76139698 76139785 - 76919273 76919360 - 6480464 15538371;16381832 494333 ABBA01059287;AC233277;AMYH02039805;NR_029909;Z84470 MIRN384;hsa-mir-384 APPROVED ncrna HGNC:31878 PROVISIONAL 4888817 MIR3918 microRNA 3918 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 159185693 159185785 - 158764661 158764753 - 16381832;20224791 100500851 ABBA01021080;AL589931;AMYH02014856;NG_029794;NR_037482 APPROVED ncrna ENSG00000265558 HGNC:38919 VALIDATED 4888850 MIR3920 microRNA 3920 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 101390551 101390636 - 101519820 101519905 - 16381832;20224791 100500823 AMYH02025465;AP003080;NR_037485 APPROVED ncrna HGNC:38974 PROVISIONAL 4888808 MIR3921 microRNA 3921 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 99683158 99683242 - 99964314 99964398 - 16381832;20224791 100500859 AC117419;AMYH02007297;NR_037486 APPROVED ncrna ENSG00000264897 HGNC:38936 PROVISIONAL 4888860 MIR3919 microRNA 3919 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 159000435 159000523 + 159282646 159282734 + 16381832;20224791 100500803 ABBA01058805;AC107312;AMYH02008008;NR_037483 APPROVED ncrna HGNC:38890 PROVISIONAL 4888825 MIR3922 microRNA 3922 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 104985411 104985494 + 104591633 104591716 + 16381832;20224791;21199797 100500843 AC010191;AMYH02027103;NG_029810;NR_037487 APPROVED ncrna HGNC:38895 VALIDATED 4888802 MIR3923 microRNA 3923 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 79557037 79557119 + 79507887 79507969 + 16381832;20224791 100500877 ABBA01031031;AC117479;AMYH02007127;NR_037488 APPROVED ncrna ENSG00000265193 HGNC:38978 PROVISIONAL 4888832 MIR3924 microRNA 3924 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 59064239 59064319 - 57304479 57304559 - 16381832;20224791 100500834 ABBA01019427;AC022541;AMYH02023148;NR_037490 APPROVED ncrna ENSG00000264747 HGNC:38984 PROVISIONAL 4888783 MIR3925 microRNA 3925 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 36590213 36590289 - 36622436 36622512 - 16381832;20224791;21199797 100500885 ABBA01038264;AMYH02013558;NR_037491;Z85986 APPROVED ncrna ENSG00000263894 HGNC:38996 PROVISIONAL 4888830 MIR3926-2 microRNA 3926-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 12584746 12584808 + 12727237 12727299 + 16381832;20224791;21199797 100500838 AC123777;AMYH02017469;NR_037495 APPROVED ncrna HGNC:38883 PROVISIONAL 4888779 MIR3927 microRNA 3927 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 112273755 112273825 - 109511475 109511545 - 16381832;20224791;21807764 100500898 ABBA01042761;AL162733;AMYH02021439;NR_037493 APPROVED ncrna ENSG00000263861 HGNC:38901 PROVISIONAL 4888769 MIR3928 microRNA 3928 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 31556048 31556105 - 31160062 31160119 - 16381832;20224791;22922797;23034410 100500901 ABBA01055322;AC005005;AMYH02038232;NR_037496 APPROVED ncrna ENSG00000264141 HGNC:38933 PROVISIONAL 4888803 MIR3929 microRNA 3929 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 33514051 33514105 - 35934088 35934142 - 16381832;20224791 100500864 ABBA01022438;AC118757;AMYH02034557;NR_037497 APPROVED ncrna ENSG00000265641 HGNC:38945 PROVISIONAL 4888797 MIR3926-1 microRNA 3926-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 12584741 12584813 - 12727232 12727304 - 16381832;20224791 100500870 AC123777;AMYH02017469;NR_037492 APPROVED ncrna HGNC:38959 PROVISIONAL 4888776 MIR3935 microRNA 3935 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 56279432 56279535 + 56245520 56245623 + 16381832;20498841 100500891 ABBA01025240;AC079411;AMYH02032084;NR_037499 APPROVED ncrna HGNC:38918 PROVISIONAL 4888806 MIR3936 microRNA 3936 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 131701182 131701291 - 132365490 132365599 - 16381832;20498841;21199797;21606961 100500865 ABBA01068808;AC008599;AMYH02012215;NR_037500 APPROVED ncrna ENSG00000263597 HGNC:38947 PROVISIONAL 4888795 MIR3934 microRNA 3934 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 33665905 33666011 + 33698128 33698234 + 16381832;20498841;21807764 100500873 ABBA01038161;AL139044;AMYH02013498;NG_034147;NR_037498 APPROVED ncrna ENSG00000266509 HGNC:38965 PROVISIONAL 4888845 MIR3937 microRNA 3937 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 39520470 39520575 + 39661216 39661321 + 16381832;20498841 100500822 ABBA01046918;AF241734;AMYH02039179;NR_037501 APPROVED ncrna ENSG00000263730 HGNC:38970 PROVISIONAL 4888793 MIR3938 microRNA 3938 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 55886520 55886622 - 55852492 55852594 - 16381832;20498841 100500875 ABBA01024452;AC116991;AMYH02006846;NR_037502 APPROVED ncrna HGNC:38972 PROVISIONAL 4888801 MIR3941 microRNA 3941 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 124176481 124176583 + 122416965 122417067 + 16381832;20498841 100500866 ABBA01062846;AMYH02023950;BX842242;NR_037506 APPROVED ncrna HGNC:38949 PROVISIONAL 4888836 MIR3943 microRNA 3943 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 43190494 43190593 + 43150895 43150994 + 16381832;20498841 100500829 ABBA01058179;AC004455;AMYH02015607;NR_037508 APPROVED ncrna HGNC:38888 PROVISIONAL 4888810 MIR3939 microRNA 3939 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 167411295 167411400 - 166997807 166997912 - 16381832;20498841;23850713 100500857 AMYH02014974;NR_037504;Z94721 APPROVED ncrna ENSG00000265828 HGNC:38931 PROVISIONAL 4888758 MIR3944 microRNA 3944 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 135185060 135185167 - 133371556 133371663 - 16381832;20498841;21199797 100500911 ABBA01006214;AL360181;AMYH02024093;NR_037509 APPROVED ncrna HGNC:38898 PROVISIONAL 4888849 MIR3945 microRNA 3945 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 185772167 185772264 - 184851013 184851110 - 16381832;20498841 100500818 AC084871;AMYH02010656;NR_037510 APPROVED ncrna ENSG00000266698 HGNC:38954 PROVISIONAL 5134843 MIR3960 microRNA 3960 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 130548112 130548202 + 127785833 127785923 + 16381832;21324897 100616250 ABBA01043844;AL162586;AMYH02021697;NG_029812;NG_033942;NR_039767 APPROVED ncrna ENSG00000266070 HGNC:41595 VALIDATED 5133860 MIR3972 microRNA 3972 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 17604384 17604470 + 17277889 17277975 + 16381832;20876853 100616188 ABBA01000267;AL590644;AMYH02000393;NR_039768 APPROVED ncrna HGNC:41876 PROVISIONAL 5133855 MIR3974 microRNA 3974 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 17826233 17826328 + 17673299 17673394 + 16381832;20876853 100616279 ABBA01067918;AC087321;AMYH02026115;NR_039770 APPROVED ncrna HGNC:41672 PROVISIONAL 4888780 MIR3940 microRNA 3940 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 6416421 6416522 - 6416410 6416511 - 16381832;20498841;21199797;23228962 100500888 ABBA01055959;AC011491;AMYH02035351;NR_037505 APPROVED ncrna HGNC:38893 PROVISIONAL 5133857 MIR3975 microRNA 3975 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 33171701 33171770 + 35591737 35591806 + 16381832;20876853 100616257 ABBA01022444;AC090220;AMYH02034554;NR_039771 APPROVED ncrna HGNC:41613 PROVISIONAL 4888764 MIR3942 microRNA 3942 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 35664457 35664565 - 35372256 35372364 - 16381832;20498841;21199797;21606961 100500904 ABBA01038505;AC019288;AMYH02030189;NR_037507 APPROVED ncrna HGNC:38976 PROVISIONAL 5133862 MIR3976 microRNA 3976 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 5840694 5840832 + 5840695 5840833 + 16381832;20876853 100616244 ABBA01049884;AMYH02034249;AP005433;NR_039772 APPROVED ncrna ENSG00000272380 HGNC:41578 PROVISIONAL 8695733 MIR3976HG MIR3976 host gene (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 18 18 18 p11.31 5636054 5679446 + 5748818 5795900 + 5748819 5795901 + 8554872 11173847;23251661 645355 ABBA01049883;AF301223;AMYH02034249;AP005231;AP005433;HG509697;HG509698;HG509699;NR_038839 Hs.632356 LINC01469 ncrna ENSG00000261738 HGNC:51104 VALIDATED 5133853 MIR3978 microRNA 3978 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 109325346 109325446 + 110082118 110082218 + 16381832;20876853 100616491 ABBA01043435;AL360224;AMYH02040227;NR_039774 APPROVED ncrna HGNC:41630 PROVISIONAL 5133852 MIR3977 microRNA 3977 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 82135974 82136043 + 82840155 82840224 + 16381832;20876853 100616297 ABBA01062077;AC108174;AMYH02011704;NR_039773 APPROVED ncrna HGNC:41721 PROVISIONAL 5133850 MIR3973 microRNA 3973 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 36031648 36031754 + 36010098 36010204 + 16381832;20876853 100616311 ABBA01060852;AC026269;AMYH02024600;NR_039769 APPROVED ncrna HGNC:41756 PROVISIONAL 1603784 MIR410 microRNA 410 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81588311 81588390 + 101532249 101532328 + 101065912 101065991 + 6480464 15891114;15965474;15978578;16274478;16381832;17604727;21970883;22750473;23034410;23246289 574434 ABBA01048514;AL132709;AMYH02029867;AY882266;NR_030156 MIRN410;hsa-mir-410 microrna APPROVED ncrna HGNC:32065 615036 PROVISIONAL 1603786 MIR409 microRNA 409 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81587699 81587777 + 101531637 101531715 + 101065300 101065378 + 6480464 15891114;15965474;16274478;16381832;17604727;22179828;22388101;22531314;22927033;23360331;23820886 574413 ABBA01048514;AL132709;AMYH02029867;NR_029975 MIRN409;hsa-mir-409 APPROVED ncrna HGNC:32055 614057 PROVISIONAL 1603135 MIR411 microRNA 411 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81545694 81545789 + 101489662 101489757 + 101023325 101023420 + 6480464 16381832;16505370;17604727;23561550 693121 ABBA01048514;AL132709;AMYH02029867;NR_030389 MIRN411;hsa-mir-411 APPROVED ncrna ENSG00000199109 HGNC:32792 PROVISIONAL 1603785 MIR412 microRNA 412 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81587846 81587936 + 101531784 101531874 + 101065447 101065537 + 6480464 15891114;16381832;23226537 574433 ABBA01048514;AL132709;AMYH02029867;NR_030155 MIRN412;hsa-mir-412 APPROVED ncrna ENSG00000199012 HGNC:32064 PROVISIONAL 1603134 MIR421 microRNA 421 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q13.2 73721681 73721765 - 73438212 73438296 - 74218377 74218461 - 6480464 16381832;16505370;17604727;19802518;20080624;21352803;22146319;22446874;22926798;22952991;23707940;24564768 693122 ABBA01059591;AC004386;AMYH02039775;NR_030398 2151527 RH68565 MIRN421;hsa-mir-421 APPROVED ncrna HGNC:32793 PROVISIONAL 4108945 MIR4251 microRNA 4251 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 2242917 2242977 + 3044539 3044599 + 3127975 3128035 + 16381832;19784364 100422968 ABBA01073664;AL008733;AMYH02000134;NG_029576;NR_036215 APPROVED ncrna HGNC:38370 VALIDATED 1352547 MIR425 microRNA 425 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.31 49014304 49014390 - 49057581 49057667 - 49020148 49020234 - 6480464 15538371;15891114;16381832;17604727;17616659;21118967;23505378;23867623;24571667 494337 ABBA01024618;AC137630;AMYH02006735;NG_033126;NR_029948 MIRN425;hsa-mir-425 APPROVED ncrna ENSG00000199032 HGNC:31882 VALIDATED 4108943 MIR4252 microRNA 4252 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 5604405 5604467 - 6489894 6489956 - 6429834 6429896 - 16381832;19784364 100422975 ABBA01035449;AL031848;AMYH02000175;NR_036218 1724561 RH122540 APPROVED ncrna ENSG00000265392 HGNC:38384 PROVISIONAL 4108871 MIR4254 microRNA 4254 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 30493497 30493572 - 32224261 32224336 - 31758660 31758735 - 16381832;19784364 100423028 ABBA01023452;AL354919;AMYH02000686;NR_036216 APPROVED ncrna ENSG00000266580 HGNC:38193 PROVISIONAL 1352178 MIR422A microRNA 422a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q22.31 41042525 41042614 - 64163129 64163218 - 63870930 63871019 - 15325244;16381832;17604727;20351063;22469014 494334 ABBA01038904;AC015914;AMYH02030591;NR_029944 MIRN422A APPROVED ncrna ENSG00000199156 HGNC:31879 PROVISIONAL 4109013 MIR4255 microRNA 4255 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 35905168 35905239 + 37627164 37627235 + 37161563 37161634 + 16381832;19784364 100422898 ABBA01023289;AL031430;AMYH02000794;NR_036217 2173002 AL009550 APPROVED ncrna ENSG00000264698 HGNC:38187 PROVISIONAL 4108935 MIR4256 microRNA 4256 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 111234924 111234987 - 113004392 113004455 - 112461770 112461833 - 16381832;19784364 100422976 ABBA01068406;AL354760;AMYH02001738;NR_036210 1650944 D1S2594 APPROVED ncrna HGNC:38388 PROVISIONAL 4108963 MIR4257 microRNA 4257 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 123640169 123640254 + 150524405 150524490 + 150551929 150552014 + 8554872 16381832;19784364 100422997 ABBA01049348;AL356356;AMYH02001854;NR_036211 APPROVED ncrna ENSG00000264553 HGNC:38312 PROVISIONAL 4108877 MIR4258 microRNA 4258 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 128019194 128019284 + 154948169 154948259 + 154975693 154975783 + 16381832;19784364;23535732 100423020 ABBA01016724;AL451085;AMYH02001935;NG_029028;NR_036212 APPROVED ncrna HGNC:38281 VALIDATED 4109010 MIR4253 microRNA 4253 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 21511793 21511860 - 23189652 23189719 - 22863159 22863226 - 16381832;19784364 100422914 ABBA01059859;AL512444;AMYH02000481;NR_036214 APPROVED ncrna ENSG00000264014 HGNC:38231 PROVISIONAL 4108979 MIR4261 microRNA 4261 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 10248794 10248851 - 10332740 10332797 - 10192614 10192671 - 16381832;19784364;23535732 100422929 ABBA01015608;AC007240;AMYH02003266;NR_036222 APPROVED ncrna ENSG00000265418 HGNC:38272 PROVISIONAL 4109023 MIR4260 microRNA 4260 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 183027699 183027765 - 209796789 209796855 - 209623444 209623510 - 8554872 16381832;19784364 100422894 ABBA01048215;AL031316;AMYH02002598;NR_036213 APPROVED ncrna HGNC:38179 PROVISIONAL 4108923 MIR4262 microRNA 4262 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 11894198 11894251 - 11977059 11977112 - 11836933 11836986 - 16381832;19784364 100422996 ABBA01015656;AC012456;AMYH02003293;NR_036226 APPROVED ncrna ENSG00000265172 HGNC:38308 PROVISIONAL 1350017 MIR423 microRNA 423 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q11.2 25305698 25305791 + 28444097 28444190 + 30117079 30117172 + 6480464 15325244;16381832;17604727;17616659;18230126;19138993;19851984;19950226;20158877;20185794;20585341;20732906;21890460;22188991;22593246;24253456;24486742;24885463 494335 ABBA01015005;AC104984;AMYH02033268;AY882274;NR_029945 MIRN423;hsa-mir-423 APPROVED ncrna HGNC:31880 PROVISIONAL 1353446 MIR424 microRNA 424 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134067462 134067559 - 133680644 133680741 - 134546614 134546711 - 6480464 15325244;16381832;17604727;17616659;17889671;19692702;20462953;20972335;21179471;21885851;21902894;22469983;22681934;23263626;23447642;23643257;23724129;23790110;23801117;23803556 494336 ABBA01042455;AC004383;AMYH02040528;NR_029946 1654449 RH18517 MIR322;MIRN424;hsa-mir-424;miRNA424 APPROVED ncrna ENSG00000274784 HGNC:31881 300682 PROVISIONAL 4108950 MIR4263 microRNA 4263 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 28064254 28064336 + 28219234 28219316 + 27996367 27996449 + 16381832;19784364 100422965 ABBA01045223;AC021171;AMYH02003486;NR_036230 APPROVED ncrna HGNC:38365 PROVISIONAL 4109021 MIR4264 microRNA 4264 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 79705135 79705200 - 79876420 79876485 - 79649294 79649359 - 16381832;19784364 100422888 ABBA01075676;AC096573;AMYH02004128;NR_036231 APPROVED ncrna ENSG00000266436 HGNC:38338 PROVISIONAL 4109045 MIR4265 microRNA 4265 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 104067717 104067815 - 109757946 109758044 - 109141490 109141588 - 16381832;19784364 100422863 ABBA01000772;AC010906;AMYH02004517;NR_036223 APPROVED ncrna ENSG00000264934 HGNC:38358 PROVISIONAL 4108918 MIR4267 microRNA 4267 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 4358 4439 + 110827538 110827619 - 110069961 110070042 - 16381832;19784364 100422994 ABBA01202645;AC013268;AMYH02004556;NR_036225 APPROVED ncrna ENSG00000265682 HGNC:38286 PROVISIONAL 4108859 MIR4269 microRNA 4269 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 233922309 233922392 + 240227157 240227240 + 239305462 239305545 + 16381832;19784364 100423043 ABBA01033520;AC062017;AMYH02006082;NR_036229 APPROVED ncrna ENSG00000265215 HGNC:38291 PROVISIONAL 4109039 MIR4270 microRNA 4270 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 15475974 15476043 - 15537746 15537815 - 15496239 15496308 - 16381832;19784364 100422868 ABBA01025141;AC027129;AMYH02006331;NR_036232 APPROVED ncrna HGNC:38377 PROVISIONAL 4108968 MIR4272 microRNA 4272 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 67219282 67219345 + 67275888 67275951 + 67225464 67225527 + 16381832;19784364 100422941 ABBA01030877;AC112515;AMYH02006991;NR_036234 APPROVED ncrna HGNC:38303 PROVISIONAL 4109078 MIR4274 microRNA 4274 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 7366211 7366304 + 7461755 7461845 + 7460028 7460118 + 16381832;19784364 100422826 AC116316;NR_036238 APPROVED ncrna HGNC:38194 PROVISIONAL 4108960 MIR4271 microRNA 4271 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 49274995 49275061 + 49311553 49311619 + 49274120 49274186 + 6480464;8554872 16381832;19784364 100422952 ABBA01024601;AC121247;AMYH02006748;NR_036233 APPROVED ncrna ENSG00000264633 HGNC:38332 PROVISIONAL 4108885 MIR4276 microRNA 4276 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 172673670 172673739 + 175344946 175345015 + 174423795 174423864 + 16381832;19784364 100423042 ABBA01070390;AC122137;AMYH02010530;NR_036236 1709544 SHGC-81855 APPROVED ncrna ENSG00000265846 HGNC:38232 PROVISIONAL 4108975 MIR4275 microRNA 4275 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 29271602 29271688 + 28821204 28821290 + 28819582 28819668 + 16381832;19784364 100422937 ABBA01032754;AC096566;AMYH02008955;NR_036237 APPROVED ncrna HGNC:38293 PROVISIONAL 4108944 MIR4277 microRNA 4277 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 1745851 1745934 - 1708900 1708983 - 1708785 1708868 - 16381832;19784364 100422966 ABBA01034196;AC026412;AMYH02010769;NR_036240 APPROVED ncrna ENSG00000263746 HGNC:38367 PROVISIONAL 4108952 MIR4268 microRNA 4268 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 214541168 214541230 - 220771223 220771286 - 219906502 219906565 - 16381832;19784364 100422959 ABBA01023834;AC008281;AMYH02005835;NR_036228 1803102;1803238;1967916;1967918;1967920;1967922;1967924;1967926;1967928;1967930;1967932;1967934 ECD02442;ECD02512;REN54834;REN54835;REN54836;REN54837;REN54838;REN54839;REN54840;REN54841;REN54842;REN54843 APPROVED ncrna ENSG00000266518 HGNC:38352 PROVISIONAL 4108983 MIR4278 microRNA 4278 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 6856829 6856897 - 6827966 6828034 - 6827853 6827921 - 16381832;19784364 100422999 ABBA01016151;AC122710;AMYH02010810;NR_036242 APPROVED ncrna HGNC:38243 PROVISIONAL 4109020 MIR4280 microRNA 4280 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q14.3 82302501 82302576 - 86410696 86410771 - 87114879 87114954 - 16381832;19784364 100422887 ABBA01062120;AC109492;AMYH02011744;NR_036243 APPROVED ncrna ENSG00000265919 HGNC:38334 PROVISIONAL 4108948 MIR4281 microRNA 4281 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 172443753 172443814 + 176056440 176056501 - 176629439 176629500 - 16381832;19784364 100422962 ABBA01033485;AC091934;AMYH02012817;NR_036239 APPROVED ncrna HGNC:38357 PROVISIONAL 4108875 MIR4266 microRNA 4266 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 104239280 104239334 - 109930027 109930081 - 109313571 109313625 - 16381832;19784364 100423027 ABBA01000777;AC010906;AMYH02004519;NR_036224 APPROVED ncrna ENSG00000265965 HGNC:38175 PROVISIONAL 4108889 MIR4282 microRNA 4282 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 74070545 74070611 - 73677410 73677476 - 72967687 72967753 - 16381832;19784364 100423005 ABBA01040301;AL360232;AMYH02013898;NR_036244 APPROVED ncrna ENSG00000266180 HGNC:38189 PROVISIONAL 4108992 MIR4283-1 microRNA 4283-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 57023492 57023571 - 56955785 56955864 - 16381832;19784364 100422917 ABBA01121201;AC069152;AC122133;AMYH02015765;NR_036246 APPROVED ncrna ENSG00000264426 HGNC:38238 PROVISIONAL 4109055 MIR4283-2 microRNA 4283-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 63081468 63081547 + 63621090 63621169 + 16381832;19784364 100422848 ABBA01226249;AC006015;AC069152;AMYH02015845;NR_036270 APPROVED ncrna ENSG00000265214 HGNC:38296 PROVISIONAL 4108961 MIR4284 microRNA 4284 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 68603852 68603932 + 73125647 73125727 + 73711317 73711397 + 8554872 16381832;19784364 100422948 ABBA01063942;AC073846;AMYH02016029;NR_036247 APPROVED ncrna ENSG00000265724 HGNC:38322 PROVISIONAL 4108954 MIR4273 microRNA 4273 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 76531200 76531283 + 75787431 75787514 + 75738280 75738363 + 8554872 16381832;19784364 100422955 ABBA01030991;AC108724;AC245159;NR_036235 APPROVED ncrna ENSG00000266396 HGNC:38339 PROVISIONAL 4109035 MIR4279 microRNA 4279 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 31816809 31816866 - 31936208 31936265 - 31936102 31936159 - 16381832;19784364 100422874 ABBA01066726;AC025458;AMYH02011118;NR_036241 APPROVED ncrna ENSG00000266243 HGNC:38195 PROVISIONAL 4108930 MIR4286 microRNA 4286 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 9652362 9652454 + 10524488 10524580 + 10666978 10667070 + 16381832;19784364 100422982 ABBA01026889;AC105001;AMYH02017429;NR_036248 APPROVED ncrna ENSG00000263762 HGNC:38186 PROVISIONAL 4109049 MIR4285 microRNA 4285 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 96945395 96945479 + 101936369 101936453 + 16381832;19784364 100422858 ABBA01011294;AC005088;AC091390;AMYH02016433;NR_036245 APPROVED ncrna HGNC:38337 PROVISIONAL 4109074 MIR4287 microRNA 4287 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 26703366 26703443 - 27743556 27743633 - 27886039 27886116 - 16381832;19784364 100422828 ABBA01005593;AC069113;AMYH02017680;NR_036249 APPROVED ncrna HGNC:38208 PROVISIONAL 4109011 MIR4288 microRNA 4288 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p21 27322500 27322566 - 28362633 28362699 - 28505116 28505182 - 16381832;19784364 100422903 ABBA01005603;AC011132;AMYH02017687;NG_029723;NR_036250 APPROVED ncrna ENSG00000265251 HGNC:38203 VALIDATED 4108881 MIR4289 microRNA 4289 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 61942008 61942077 - 91360751 91360820 - 88745836 88745905 - 16381832;19784364 100423015 ABBA01016766;AL390791;AMYH02021182;NR_036252 APPROVED ncrna ENSG00000265873 HGNC:38278 PROVISIONAL 4108949 MIR4290 microRNA 4290 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 63220343 63220437 - 92785723 92785817 - 90023441 90023535 - 16381832;19784364 100422963 ABBA01012832;AL161629;AMYH02021191;NR_036253 APPROVED ncrna ENSG00000263967 HGNC:38360 PROVISIONAL 1605756 MIR429 microRNA 429 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p36.33 1478391 1478473 - 1104385 1104467 + 1169005 1169087 + 6480464 15735639;15891114;16381832;17604727;17616659;18381893;19501389;19801681;20484493;20514023;20668090;21079000;21277012;21785383;22576799;23111103;23559187;23635949;24237355;24802724;24866238 554210 ABBA01016022;AL390719;AMYH02000082;NR_029957 MIRN429;hsa-mir-429 APPROVED ncrna ENSG00000198976 HGNC:13784 612094 PROVISIONAL 4108982 MIR4291 microRNA 4291 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 67023243 67023307 + 96581639 96581703 + 93819357 93819421 + 16381832;19784364 100422927 ABBA01017681;AL442224;AMYH02021246;NR_036254 APPROVED ncrna ENSG00000265347 HGNC:38267 PROVISIONAL 4109046 MIR4292 microRNA 4292 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 110239196 110239262 + 139725409 139725475 + 136830957 136831023 + 16381832;19784364 100422860 ABBA01022722;AL355987;AMYH02021912;NG_031950;NR_036251 APPROVED ncrna HGNC:38348 VALIDATED 4109062 MIR4293 microRNA 4293 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 14352830 14352907 - 14425199 14425276 - 14383200 14383277 - 16381832;19784364 100422843 ABBA01034613;AL139405;AMYH02022195;NR_036181 APPROVED ncrna ENSG00000266321 HGNC:38270 PROVISIONAL 4109014 MIR4294 microRNA 4294 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 43779176 43779251 - 50193557 50193632 - 48985512 48985587 - 16381832;19784364 100422895 ABBA01047231;AC060234;AMYH02022981;NR_036182 APPROVED ncrna ENSG00000264800 HGNC:38180 PROVISIONAL 4108997 MIR4295 microRNA 4295 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 108121641 108121725 + 114393929 114394013 + 112634170 112634254 + 16381832;19784364 100422909 ABBA01063003;AL139120;AMYH02023825;NR_036177 APPROVED ncrna HGNC:38220 PROVISIONAL 4108898 MIR4296 microRNA 4296 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 120495159 120495246 - 126721352 126721439 - 125032783 125032870 - 16381832;19784364 100423041 ABBA01034161;AL731571;AMYH02023987;NR_036178 APPROVED ncrna HGNC:38178 PROVISIONAL 4108876 MIR4298 microRNA 4298 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 1918459 1918531 - 1880694 1880766 - 1859464 1859536 - 16381832;19784364 100423021 ABBA01012161;AC051649;AMYH02024178;NR_036185 1822242 ECD12207 APPROVED ncrna ENSG00000264493 HGNC:38313 PROVISIONAL 4108886 MIR4299 microRNA 4299 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 11802439 11802510 - 11678198 11678269 - 11656651 11656722 - 16381832;19784364 100423026 ABBA01061143;AC131935;AMYH02024336;NR_036184 APPROVED ncrna ENSG00000266645 HGNC:38329 PROVISIONAL 4109082 MIR4300 microRNA 4300 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 78910624 78910719 - 81601783 81601878 - 81890741 81890836 - 16381832;19784364 100422823 ABBA01017378;AMYH02025179;AP002802;NR_036186 1852403 D11S4453 APPROVED ncrna ENSG00000264110 HGNC:38184 PROVISIONAL 4109052 MIR4301 microRNA 4301 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 110473681 110473746 - 113320745 113320810 - 113450023 113450088 - 16381832;19784364;24058526 100422855 ABBA01039788;AMYH02025593;AP002840;NR_036183 APPROVED ncrna ENSG00000265140 HGNC:38323 PROVISIONAL 4109017 MIR4302 microRNA 4302 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 31173428 31173487 - 26026953 26027012 - 25874020 25874079 - 16381832;19784364 100422897 ABBA01068027;AC019209;AMYH02026228;NR_036188 APPROVED ncrna HGNC:38185 PROVISIONAL 4108986 MIR4303 microRNA 4303 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 98052955 98053020 - 98389161 98389226 - 97995383 97995448 - 16381832;19784364 100422924 ABBA01053295;AC007297;AMYH02027032;NR_036189 APPROVED ncrna ENSG00000263890 HGNC:38256 PROVISIONAL 4108981 MIR4304 microRNA 4304 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 123088004 123088065 - 123495214 123495275 - 123010667 123010728 - 8554872 16381832;19784364;23974872 100422931 ABBA01060438;AC026362;AMYH02027444;NR_036187 APPROVED ncrna HGNC:38276 PROVISIONAL 4108970 MIR4305 microRNA 4305 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 21290882 21290983 - 40238171 40238272 - 39664034 39664135 - 16381832;19784364 100422940 ABBA01021310;AL512505;AMYH02027901;NG_028352;NR_036190 APPROVED ncrna ENSG00000264171 HGNC:38301 VALIDATED 4108878 MIR4307 microRNA 4307 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 7242247 7242330 + 27377848 27377931 + 26908642 26908725 + 16381832;19784364 100423019 ABBA01061365;AL110292;AMYH02028902;NR_036193 APPROVED ncrna ENSG00000265165 HGNC:38257 PROVISIONAL 4109085 MIR4306 microRNA 4306 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 81139832 81139922 + 100295313 100295403 + 99643059 99643149 + 16381832;19784364 100422861 ABBA01027117;AL359748;AMYH02028596;NR_036191 APPROVED ncrna HGNC:38350 PROVISIONAL 4108956 MIR4309 microRNA 4309 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 83060197 83060279 + 103005981 103006063 + 102539644 102539726 + 16381832;19784364 100422954 ABBA01048469;AL136293;AMYH02029902;NR_036192 APPROVED ncrna ENSG00000266015 HGNC:38336 PROVISIONAL 4108928 MIR4308 microRNA 4308 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 35394318 35394398 - 55344831 55344911 - 54878113 54878193 - 16381832;19784364 100422984 ABBA01018198;AL160471;AMYH02029223;NR_036194 APPROVED ncrna HGNC:38206 PROVISIONAL 1604871 MIR431 microRNA 431 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81401163 81401276 + 101347344 101347457 + 100881007 100881120 + 6480464 15891114;16381832;17604727;22293894;22456620 574038 ABBA01048516;AL117190;AMYH02029863;NR_029965 MIRN431;hsa-mir-431;miRNA431 APPROVED ncrna ENSG00000208001 HGNC:32027 611708 PROVISIONAL 4108883 MIR4310 microRNA 4310 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 18926335 18926391 - 42158693 42158749 - 41866495 41866551 - 8554872 16381832;19784364 100423013 ABBA01038386;AC020659;AMYH02030279;NR_036195 APPROVED ncrna HGNC:38383 PROVISIONAL 4109033 MIR4297 microRNA 4297 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 125313491 125313566 - 131641563 131641638 - 129843299 129843374 - 16381832;19784364 100422873 ABBA01009115;AL354950;AMYH02024034;NG_030038;NR_036179 APPROVED ncrna HGNC:38393 VALIDATED 4109004 MIR4311 microRNA 4311 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 43210283 43210382 + 66332571 66332670 + 66040233 66040332 + 16381832;19784364 100422905 ABBA01038834;AC011847;AMYH02030640;NR_036196 APPROVED ncrna ENSG00000263512 HGNC:38207 PROVISIONAL 4108929 MIR4314 microRNA 4314 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 8019018 8019109 + 7991374 7991465 + 8088056 8088147 + 16381832;19784364 100422983 ABBA01054895;AC129492;AMYH02032919;KF456239;NR_036201 APPROVED ncrna ENSG00000264005 HGNC:38191 PROVISIONAL 4108863 MIR4313 microRNA 4313 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 52980235 52980335 - 76054556 76054656 - 75762215 75762315 - 16381832;19784364 100423035 ABBA01060538;AC019294;AMYH02030821;NR_036198 APPROVED ncrna ENSG00000274496 HGNC:38310 PROVISIONAL 4108895 MIR4315-1 microRNA 4315-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 43552729 43552801 - 45475363 45475435 - 16381832;19784364 100423004 ABBA01017256;AC091132;AC217778;AC244207;NR_036199 2129313 D17S1557 APPROVED ncrna HGNC:38342 PROVISIONAL 4109054 MIR4316 microRNA 4316 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 71988913 71988983 - 75393066 75393136 - 77396984 77397054 - 16381832;19784364 100422851 ABBA01028698;AC111182;AMYH02034036;NR_036200 APPROVED ncrna ENSG00000264060 HGNC:38306 PROVISIONAL 4108951 MIR4315-2 microRNA 4315-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 62818148 62818220 - 64822030 64822102 - 16381832;19784364 100422961 ABBA01011157;AC103810;AMYH02033799;NR_036271 2129313 D17S1557 APPROVED ncrna HGNC:38356 PROVISIONAL 4109071 MIR4317 microRNA 4317 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 6259651 6259715 - 6374360 6374424 - 6374361 6374425 - 16381832;19784364 100422840 ABBA01049893;AMYH02034254;AP005060;NR_036205 APPROVED ncrna HGNC:38260 PROVISIONAL 4109051 MIR4318 microRNA 4318 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 32048017 32048097 + 35237098 35237178 + 37657135 37657215 + 16381832;19784364 100422857 ABBA01022418;AC009899;AMYH02034573;NR_036202 APPROVED ncrna ENSG00000266530 HGNC:38333 PROVISIONAL 4109075 MIR4319 microRNA 4319 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 39358384 39358468 - 42550047 42550131 - 44970082 44970166 - 16381832;19784364;22219177 100422829 ABBA01022341;AC105074;AMYH02034641;NR_036203 APPROVED ncrna ENSG00000265957 HGNC:38212 PROVISIONAL 1603771 MIR432 microRNA 432 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81404642 81404735 + 101350820 101350913 + 100884483 100884576 + 6480464 15965474;16274478;16381832;17604727;23728176;24657437 574451 ABBA01048516;AL117190;AMYH02029863;AY785934;NR_030173 MIRN432;hsa-mir-432 APPROVED ncrna ENSG00000272458 HGNC:32083 PROVISIONAL 4109040 MIR4320 microRNA 4320 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 44509455 44509519 - 47652869 47652933 - 50126499 50126563 - 16381832;19784364 100422865 ABBA01018668;AC105224;AMYH02034702;NR_036204 APPROVED ncrna HGNC:38369 PROVISIONAL 4108865 MIR4321 microRNA 4321 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 2184814 2184893 + 2250638 2250717 + 2250639 2250718 + 16381832;19784364 100423031 ABBA01002714;AC005263;AMYH02035186;NG_012190;NG_032853;NR_036207 APPROVED ncrna HGNC:38244 VALIDATED 4108941 MIR4312 microRNA 4312 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 45983359 45983434 - 69094189 69094264 - 68801850 68801925 - 16381832;19784364 100422971 ABBA01038773;AC087639;AMYH02030692;NR_036197 APPROVED ncrna HGNC:38376 PROVISIONAL 4108987 MIR4322 microRNA 4322 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.2 10236476 10236548 + 10341089 10341161 + 10230413 10230485 + 16381832;19784364 100422925 ABBA01029944;AC011511;AMYH02035486;NG_028016;NR_036206 APPROVED ncrna ENSG00000264266 HGNC:38261 VALIDATED 4108936 MIR4324 microRNA 4324 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 46678905 46678976 - 49812054 49812125 - 49308797 49308868 - 8554872 16381832;19784364 100422979 ABBA01032934;AC011450;AMYH02036316;NR_036209 APPROVED ncrna HGNC:38392 PROVISIONAL 4108939 MIR4323 microRNA 4323 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 39437211 39437279 - 42637597 42637665 - 42133445 42133513 - 16381832;19784364 100422980 ABBA01040838;AC010247;AMYH02036142;NG_030365;NR_036208 APPROVED ncrna ENSG00000266226 HGNC:38394 VALIDATED 4109024 MIR4325 microRNA 4325 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 52636796 52636885 - 55896558 55896647 - 57321502 57321591 - 16381832;19784364 100422883 ABBA01052923;AL135939;AMYH02037352;NR_036219 APPROVED ncrna ENSG00000266666 HGNC:38304 PROVISIONAL 4109016 MIR4327 microRNA 4327 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 21 16930746 16930830 - 31747612 31747696 - 30375294 30375378 - 16381832;19784364 100422891 ABBA01057270;AMYH02037700;AP000885;NR_036221 APPROVED ncrna ENSG00000265007 HGNC:38355 PROVISIONAL 4108976 MIR4328 microRNA 4328 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 78397103 78397158 - 78156691 78156746 - 78901194 78901249 - 16381832;19784364 100422932 ABBA01030147;AMYH02039831;NR_036258;Z82200 APPROVED ncrna HGNC:38280 PROVISIONAL 4108887 MIR4329 microRNA 4329 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 112508577 112508647 - 112023946 112024016 - 112780718 112780788 - 16381832;19784364 100423009 ABBA01043131;AC004827;AMYH02040248;NR_036255 APPROVED ncrna HGNC:38290 PROVISIONAL 5133880 MIR4417 microRNA 4417 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 5624131 5624203 + 5564071 5564143 + 16381832;20733160 100616489 ABBA01015256;AMYH02000158;NR_039612;Z97988 APPROVED ncrna ENSG00000264341 HGNC:41535 PROVISIONAL 1604872 MIR433 microRNA 433 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81402042 81402134 + 101348223 101348315 + 100881886 100881978 + 6480464 15891114;16381832;17604727;19531230;19946636;20181727;20471450;22864358;23034410;23979134 574034 ABBA01048516;AL117190;AMYH02029863;NR_029966 MIRN433;hsa-mir-433;miRNA433 APPROVED ncrna HGNC:32026 611711 PROVISIONAL 4108980 MIR4330 microRNA 4330 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 150585008 150585112 + 150336694 150336798 + 151168222 151168326 + 16381832;19784364 100422930 ABBA01037200;AF003625;AMYH02040776;NR_036256 1701748 DXS7077 APPROVED ncrna ENSG00000265789 HGNC:38273 PROVISIONAL 5133872 MIR4422 microRNA 4422 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 55691314 55691396 + 55225641 55225723 + 16381832;20733160;21199797 100616272 ABBA01074698;AC091609;AMYH02001066;NR_039618 APPROVED ncrna ENSG00000265822 HGNC:41654 PROVISIONAL 5133859 MIR4423 microRNA 4423 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 85599477 85599556 + 85133794 85133873 + 16381832;20733160;21199797;21807764;21911355 100616481 ABBA01045643;AL358789;AMYH02001382;NR_039619 APPROVED ncrna ENSG00000266110 HGNC:41784 PROVISIONAL 5133992 MIR4419A microRNA 4419a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 23384351 23384427 - 23057858 23057934 - 16381832;20733160 100616177 ABBA01059861;AL031428;AMYH02000483;NR_039614 APPROVED ncrna ENSG00000266802 HGNC:41828 PROVISIONAL 5133996 MIR4420 microRNA 4420 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 31212003 31212079 - 30739156 30739232 - 16381832;20733160 100616164 ABBA01023497;AL137027;AMYH02000663;NR_039616 APPROVED ncrna HGNC:41772 PROVISIONAL 5133904 MIR4418 microRNA 4418 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 22592732 22592793 + 22266239 22266300 + 16381832;20733160 100616433 ABBA01059843;AL031279;AMYH02000471;NR_039613 APPROVED ncrna ENSG00000266564 HGNC:41789 PROVISIONAL 5133985 MIR4421 microRNA 4421 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 51525509 51525577 + 51059837 51059905 + 16381832;20733160 100616189 ABBA01074815;AL590455;AMYH02000995;NR_039617 APPROVED ncrna HGNC:41879 PROVISIONAL 5133948 MIR4419B microRNA 4419b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 128729051 128729118 + 128244506 128244573 + 16381832;20733160 100616298 ABBA01060294;AC061709;AMYH02027523;NR_039720 APPROVED ncrna ENSG00000265061 HGNC:41724 PROVISIONAL 5133931 MIR4424 microRNA 4424 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 178646884 178646969 + 178677749 178677834 + 16381832;20733160 100616328 ABBA01027829;AL449106;AMYH02002220;NR_039622 APPROVED ncrna ENSG00000266417 HGNC:41805 PROVISIONAL 5133920 MIR4425 microRNA 4425 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 25349994 25350077 + 25023503 25023586 + 16381832;20733160 100616365 ABBA01059925;AL050344;AMYH02000536;NR_039623 APPROVED ncrna ENSG00000264371 HGNC:41891 PROVISIONAL 5134006 MIR4428 microRNA 4428 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 237634419 237634491 + 237471119 237471191 + 16381832;20733160 100616141 ABBA01033180;AL445473;AMYH02002989;NG_008799;NR_039626 APPROVED ncrna HGNC:41667 PROVISIONAL 5134848 MIR4426 microRNA 4426 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 192685458 192685520 + 192716328 192716390 + 16381832;20733160 100616345 ABBA01027643;AL136454;AMYH02002377;NR_039624 APPROVED ncrna HGNC:41848 PROVISIONAL 5133889 MIR4429 microRNA 4429 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 11680731 11680803 - 11540605 11540677 - 16381832;20733160 100616469 ABBA01015652;AC011994;AMYH02003291;NR_039627 APPROVED ncrna ENSG00000264010 HGNC:41579 PROVISIONAL 5134008 MIR4430 microRNA 4430 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 33643583 33643631 + 33418516 33418564 + 16381832;20733160 100616136 ABBA01074908;AC020594;AMYH02003567;NR_039628 APPROVED ncrna HGNC:41646 PROVISIONAL 5133892 MIR4432 microRNA 4432 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 60614497 60614580 - 60387362 60387445 - 16381832;20733160 100616473 ABBA01075326;AC007381;AMYH02003908;NR_039631 APPROVED ncrna ENSG00000266078 HGNC:41649 PROVISIONAL 4108965 MIR4326 microRNA 4326 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 58595636 58595694 + 61918160 61918218 + 63286808 63286866 + 16381832;19784364 100422945 ABBA01021393;AL121827;AMYH02037453;NR_036220 APPROVED ncrna HGNC:38314 PROVISIONAL 5133953 MIR4433A microRNA 4433a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 64567893 64567973 + 64340759 64340839 + 16381832;20733160;21558790 100616265 ABBA01075417;AC114752;AMYH02003965;NR_039632 MIR4433 APPROVED ncrna HGNC:41634 PROVISIONAL 5133874 MIR4435-1 microRNA 4435-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 87929274 87929353 + 87629755 87629834 + 16381832;20733160 100616499 AC133965;AMYH02004232;NR_039634 APPROVED ncrna ENSG00000265507 HGNC:41713 PROVISIONAL 7247401 MIR4435-1HG MIR4435-1 host gene (non-protein coding) INTERACTS WITH valproic acid 2 2 2 q13 1961 2543 - 112124579 112252692 - 111367002 111495115 - 6480464 12477932;16344560;19531736 541471 ABBA01184312;AC017002;AC068491;AC122940;AMYH02004574;AMYH02004575;BC014776;BC070200;BC070201;BM987851;BU194036;BX647931;DA316588;NR_015395;NR_024373 Hs.560805;Hs.562920 AGD2;LINC00978 ncrna ENSG00000172965 HGNC:35163 VALIDATED 5133925 MIR4435-2 microRNA 4435-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 112078590 112078663 - 111321013 111321086 - 16381832;20733160 100616341 ABBA01196303;AC068491;AMYH02004573;NR_039636 APPROVED ncrna ENSG00000266139 HGNC:41837 PROVISIONAL 5133867 MIR4436A microRNA 4436a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 89111884 89111968 + 88812370 88812454 + 16381832;20733160;21199797 100616399 ABBA01018823;AC096579;AC244205;NR_039635 APPROVED ncrna ENSG00000265510 HGNC:41762 PROVISIONAL 5133902 MIR4431 microRNA 4431 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 52929660 52929753 - 52702522 52702615 - 16381832;20733160 100616431 ABBA01075230;AC019196;AMYH02003825;NR_039630 APPROVED ncrna ENSG00000264975 HGNC:41738 PROVISIONAL 5133906 MIR4434 microRNA 4434 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 64752647 64752699 + 64525513 64525565 + 16381832;20733160 100616419 ABBA01075420;AC008074;AMYH02003966;NR_039633 APPROVED ncrna HGNC:41832 PROVISIONAL 5133911 MIR4427 microRNA 4427 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 233759898 233759965 + 233624152 233624219 + 16381832;20733160 100616390 ABBA01033079;AL356357;AMYH02002915;NR_039625 APPROVED ncrna HGNC:41678 PROVISIONAL 5133973 MIR4437 microRNA 4437 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 182170320 182170379 - 181305593 181305652 - 16381832;20733160 100616213 ABBA01062286;AC013473;AMYH02005357;NR_039637 APPROVED ncrna ENSG00000266705 HGNC:41715 PROVISIONAL 5133916 MIR4438 microRNA 4438 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 214622791 214622883 + 213758067 213758159 + 16381832;20733160 100616375 ABBA01062774;AC009964;AMYH02005720;NR_039640 APPROVED ncrna HGNC:41555 PROVISIONAL 5133878 MIR4441 microRNA 4441 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 240007523 240007622 - 239085827 239085926 - 16381832;20733160 100616493 ABBA01033523;AC017028;AMYH02006080;NR_039643 APPROVED ncrna HGNC:41728 PROVISIONAL 5133979 MIR4439 microRNA 4439 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 225875178 225875257 - 225010461 225010540 - 16381832;20733160 100616207 ABBA01023759;AC017095;AMYH02005894;NG_034039;NR_039641 APPROVED ncrna HGNC:41622 PROVISIONAL 8550169 MIR4433B microRNA 4433b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 64340747 64340848 - 16381832;23226537 102465833 ABBA01075417;AC114752;AMYH02003965;NR_106995 hsa-mir-4433b ncrna ENSG00000264297 HGNC:50258 PROVISIONAL 5133888 MIR4442 microRNA 4442 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 25706364 25706430 - 25664873 25664939 - 16381832;20733160 100616477 ABBA01025019;AC093416;AMYH02006423;NR_039644 APPROVED ncrna ENSG00000264219 HGNC:41718 PROVISIONAL 6483954 MIR4436B2 microRNA 4436b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 111042430 111042520 + 110284853 110284943 + 16381832;21199797 100847033 AC140479;AC245043;NR_049830 ncrna ENSG00000263881 HGNC:43451 PROVISIONAL 7761166 MIR4444-2 microRNA 4444-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 75214476 75214549 + 16381832;20733160 100846999 ABBA01030983;AC117481;AMYH02007083;NR_049831 ncrna ENSG00000266780 HGNC:43481 PROVISIONAL 5686937 MIR4444-1 microRNA 4444-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 178077454 178077527 + 177212726 177212799 + 16381832;20733160 100616394 ABBA01062230;AC079305;AMYH02005313;NR_039646 MIR4444;hsa-mir-4444-1 ncrna ENSG00000263721 HGNC:41710 PROVISIONAL 5134017 MIR4445 microRNA 4445 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 109321675 109321744 + 109602828 109602897 + 16381832;20733160 100616129 ABBA01061687;AC078858;AMYH02007415;NR_039647 APPROVED ncrna ENSG00000265956 HGNC:41614 PROVISIONAL 5133861 MIR4446 microRNA 4446 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 113313723 113313789 + 113594876 113594942 + 16381832;20733160;21199797;22454130;23535732 100616476 ABBA01061651;AC112128;AMYH02007450;NR_039648 APPROVED ncrna HGNC:41700 PROVISIONAL 5687369 MIR4436B1 microRNA 4436b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 110844010 110844100 - 110086433 110086523 - 16381832;21199797 100616123 ABBA01015964;AC013268;AMYH02004559;NR_039941 MIR4436B;hsa-mir-4436b-1 ncrna HGNC:41587 PROVISIONAL 5133883 MIR4447 microRNA 4447 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 116569124 116569214 - 116850277 116850367 - 16381832;20733160 100616485 ABBA01061609;AC133796;AMYH02007480;NR_039649 APPROVED ncrna ENSG00000265433 HGNC:41850 PROVISIONAL 5134015 MIR4448 microRNA 4448 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 q27.1 183604588 183604673 + 183886800 183886885 + 16381832;20733160 100616127 ABBA01058468;AC068644;AMYH02008298;NR_039650 APPROVED ncrna ENSG00000263932 HGNC:41604 PROVISIONAL 5133907 MIR4443 microRNA 4443 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 48238054 48238106 + 48196564 48196616 + 16381832;20733160 100616407 ABBA01024655;AC104190;AMYH02006712;NR_039645 APPROVED ncrna ENSG00000265483 HGNC:41830 PROVISIONAL 5133898 MIR4449 microRNA 4449 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 53578849 53578914 + 52712682 52712747 + 16381832;20733160 100616436 ABBA01003380;AC104066;AMYH02009209;NR_039651 APPROVED ncrna ENSG00000264585 HGNC:41864 614627 PROVISIONAL 5133912 MIR4440 microRNA 4440 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 239990513 239990610 - 239068817 239068914 - 16381832;20733160 100616397 ABBA01033524;AC017028;AMYH02006079;NR_039642 APPROVED ncrna HGNC:41740 PROVISIONAL 5133943 MIR4450 microRNA 4450 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 77494721 77494785 + 76573568 76573632 + 16381832;20733160 100616299 ABBA01063363;AC112249;AMYH02009513;NR_039654 APPROVED ncrna HGNC:41725 PROVISIONAL 5133921 MIR4451 microRNA 4451 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 86643621 86643686 + 85722468 85722533 + 16381832;20733160 100616349 ABBA01063492;AC097108;AMYH02009647;NR_039656 APPROVED ncrna HGNC:41858 PROVISIONAL 5133967 MIR4454 microRNA 4454 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 q32.2 164014726 164014780 - 163093574 163093628 - 16381832;20733160 100616234 ABBA01070267;AC022272;AMYH02010414;NR_039659 APPROVED ncrna HGNC:41553 PROVISIONAL 5134014 MIR4455 microRNA 4455 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 185859537 185859594 - 184938383 184938440 - 16381832;20733160 100616111 ABBA01070523;AC084871;AMYH02010656;NR_039660 APPROVED ncrna ENSG00000263458 HGNC:41536 PROVISIONAL 5133913 MIR4456 microRNA 4456 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 535955 535997 - 535840 535882 - 16381832;20733160 100616381 ABBA01034253;AC106772;AC208300;AMYH02010755;NR_039661 APPROVED ncrna ENSG00000264233 HGNC:41606 PROVISIONAL 5134005 MIR4458 microRNA 4458 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 p15.31 8461038 8461112 + 8460925 8460999 + 16381832;20733160 100616142 ABBA01020583;AC091965;AMYH02010830;NR_039663 APPROVED ncrna ENSG00000273868 HGNC:41674 PROVISIONAL 7248490 MIR4458HG MIR4458 host gene (non-protein coding) 5 5 5 8499340 8504746 + 8457800 8463209 + 8457687 8463096 + 12477932;14702039 100505738 ABBA01020583;AC091965;AK095145;AMYH02010830;BC038766;BX648541;NR_039989 Hs.42197 ncrna ENSG00000247516 HGNC:49008 VALIDATED 5133932 MIR4460 microRNA 4460 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 128732755 128732840 - 129397062 129397147 - 16381832;20733160 100616325 AC106781;AMYH02012175;NR_039665 APPROVED ncrna ENSG00000265691 HGNC:41795 PROVISIONAL 5133977 MIR4461 microRNA 4461 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 134263729 134263802 + 134928039 134928112 + 16381832;20733160 100616209 AC008670;AMYH02012253;NR_039666 APPROVED ncrna HGNC:41656 PROVISIONAL 5133965 MIR4459 microRNA 4459 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 53371348 53371413 - 54075518 54075583 - 16381832;20733160 100616233 ABBA01015726;AC016601;AMYH02011299;NR_039664 APPROVED ncrna HGNC:41551 PROVISIONAL 5133969 MIR4457 microRNA 4457 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 1309425 1309492 - 1309310 1309377 - 16381832;20733160 100616235 ABBA01034205;AC114291;AMYH02010764;NR_039662 APPROVED ncrna ENSG00000263670 HGNC:41554 PROVISIONAL 5133901 MIR4462 microRNA 4462 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 37523141 37523198 - 37555365 37555422 - 16381832;20733160 100616413 ABBA01038287;AL353597;AMYH02013571;NR_039669 APPROVED ncrna ENSG00000263926 HGNC:41549 PROVISIONAL 5133914 MIR4463 microRNA 4463 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 76138123 76138189 + 75428407 75428473 + 16381832;20733160 100616389 ABBA01040357;AL445465;AMYH02013931;NR_039670 APPROVED ncrna ENSG00000263533 HGNC:41665 PROVISIONAL 5133886 MIR4452 microRNA 4452 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 87463635 87463705 - 86542482 86542552 - 16381832;20733160 100616463 ABBA01063503;AC110076;AMYH02009658;NR_039657 APPROVED ncrna ENSG00000266515 HGNC:41539 PROVISIONAL 5133994 MIR4465 microRNA 4465 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 141004951 141005020 + 140683814 140683883 + 16381832;20733160 100616180 ABBA01025776;AL591400;AMYH02014611;NR_039675 APPROVED ncrna ENSG00000264390 HGNC:41842 PROVISIONAL 5133995 MIR4466 microRNA 4466 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 157100812 157100865 - 156779678 156779731 - 16381832;20733160 100616154 ABBA01025556;AL355297;AMYH02014814;NG_032093;NR_039676 APPROVED ncrna ENSG00000271899 HGNC:41726 VALIDATED 5134016 MIR4464 microRNA 4464 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 91022461 91022552 + 90312742 90312833 + 16381832;20733160 100616109 AL132996;AMYH02014099;NR_039671 APPROVED ncrna ENSG00000266760 HGNC:41528 PROVISIONAL 5134849 MIR4468 microRNA 4468 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 137808504 137808567 + 138123758 138123821 + 16381832;20733160 100616226 ABBA01001155;AC083867;AMYH02016855;NR_039678 APPROVED ncrna ENSG00000266193 HGNC:41533 PROVISIONAL 5133869 MIR4467 microRNA 4467 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 102111916 102111978 + 102471469 102471531 + 16381832;20733160;21199797 100616367 ABBA01011281;AC093668;AC244503;NR_039677 APPROVED ncrna HGNC:41896 PROVISIONAL 5133871 MIR4469 microRNA 4469 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 42751340 42751418 - 42896197 42896275 - 16381832;20733160;21199797 100616115 ABBA01021175;AC009634;AMYH02017912;NG_032868;NR_039679 APPROVED ncrna ENSG00000266044 HGNC:41556 VALIDATED 5133884 MIR4470 microRNA 4470 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 62627347 62627418 + 61714788 61714859 + 16381832;20733160 100616484 ABBA01041827;AC067881;AMYH02018063;NR_039680 APPROVED ncrna ENSG00000264408 HGNC:41833 PROVISIONAL 5133863 MIR4471 microRNA 4471 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 101394991 101395073 + 100382763 100382845 + 16381832;20733160;21199797 100616451 AMYH02018504;AP003472;NR_039681 APPROVED ncrna ENSG00000265599 HGNC:41657 PROVISIONAL 5133980 MIR4453 microRNA 4453 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 153457580 153457668 + 152536428 152536516 + 16381832;20733160 100616193 ABBA01070123;AC023424;AMYH02010309;NR_039658 APPROVED ncrna ENSG00000277685 HGNC:41892 VALIDATED 5133938 MIR4472-2 microRNA 4472-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 116866057 116866123 - 116428252 116428318 - 16381832;20733160 100616309 ABBA01020011;AC079384;AMYH02027291;NR_039683 APPROVED ncrna ENSG00000264037 HGNC:41752 PROVISIONAL 5133962 MIR4473 microRNA 4473 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 20411146 20411236 - 20411148 20411238 - 16381832;20733160 100616229 ABBA01065186;AL513498;AMYH02019274;NR_039684 APPROVED ncrna HGNC:41540 PROVISIONAL 5133864 MIR4474 microRNA 4474 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 20502263 20502340 - 20502265 20502342 - 16381832;20733160;21199797;21606961 100616441 ABBA01065186;AL163193;AMYH02019274;NR_039685 APPROVED ncrna HGNC:41821 PROVISIONAL 5133946 MIR4475 microRNA 4475 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 36823536 36823596 - 36823539 36823599 - 16381832;20733160 100616289 ABBA01050410;AL450267;AMYH02019482;NR_039686 APPROVED ncrna ENSG00000266255 HGNC:41697 PROVISIONAL 5133894 MIR4476 microRNA 4476 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 36893459 36893528 - 36893462 36893531 - 16381832;20733160 100616456 ABBA01050410;AL450267;AMYH02019482;NG_033894;NR_039687 APPROVED ncrna HGNC:41793 PROVISIONAL 5133993 MIR4477A microRNA 4477a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 68415308 68415388 - 63819574 63819654 - 16381832;20733160 100616184 ABBA01013642;AMYH02020836;CR786580;NR_039688 APPROVED ncrna HGNC:41859 PROVISIONAL 5133983 MIR4477B microRNA 4477b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 68415308 68415388 + 63819574 63819654 + 16381832;20733160 100616194 ABBA01013642;AMYH02020836;CR786580;NR_039689 APPROVED ncrna ENSG00000266017 HGNC:41898 PROVISIONAL 5133941 MIR4478 microRNA 4478 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 124882361 124882446 - 122120082 122120167 - 16381832;20733160 100616312 ABBA01043709;AL162423;AMYH02021586;NR_039690 APPROVED ncrna ENSG00000266583 HGNC:41759 PROVISIONAL 5133891 MIR4479 microRNA 4479 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 139781185 139781255 + 136886733 136886803 + 16381832;20733160 100616480 AL355987;AMYH02021914;NR_039697 APPROVED ncrna ENSG00000266507 HGNC:41767 PROVISIONAL 1605755 MIR448 microRNA 448 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q23 114493182 114493292 + 114058017 114058127 + 114823454 114823564 + 6480464 15735639;16381832;23504987 554212 ABBA01053610;AL590097;AMYH02040270;NR_029955 MIRN448;hsa-mir-448;miRNA448 APPROVED ncrna HGNC:26069 300686 PROVISIONAL 5133939 MIR4481 microRNA 4481 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 12695137 12695196 - 12653138 12653197 - 16381832;20733160 100616320 ABBA01034640;AL731559;AMYH02022155;NR_039701 APPROVED ncrna HGNC:41781 PROVISIONAL 5133998 MIR4483 microRNA 4483 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 115537752 115537813 - 113777993 113778054 - 16381832;20733160 100616162 ABBA01062990;AL592546;AMYH02023841;NR_039703 APPROVED ncrna HGNC:41761 PROVISIONAL 5133936 MIR4482 microRNA 4482 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 106028094 106028163 - 104268336 104268405 - 16381832;20733160;21558790;21785231 100616323 ABBA01063087;AL139341;AMYH02023734;NR_039702 MIR4482-1;hsa-mir-4482-1 APPROVED ncrna ENSG00000266852 HGNC:41792 PROVISIONAL 5133933 MIR4484 microRNA 4484 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 127508309 127508391 + 125819740 125819822 + 16381832;20733160 100616327 ABBA01034170;AL360176;AMYH02023997;NR_039704 APPROVED ncrna ENSG00000265092 HGNC:41799 PROVISIONAL 5134011 MIR4486 microRNA 4486 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 19596857 19596919 + 19575310 19575372 + 16381832;20733160 100616118 ABBA01061036;AC023950;AMYH02024407;NG_030347;NR_039706 APPROVED ncrna HGNC:41566 VALIDATED 5133951 MIR4472-1 microRNA 4472-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 143257700 143257779 + 142176339 142176418 + 16381832;20733160 100616268 ABBA01029394;AC103758;AMYH02018914;NR_039682 APPROVED ncrna ENSG00000265247 HGNC:41644 PROVISIONAL 5133959 MIR4485 microRNA 4485 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 10529817 10529873 - 10508270 10508326 - 16381832;20733160 100616263 AC021914;AMYH02024327;NR_039705 APPROVED ncrna HGNC:41628 PROVISIONAL 5133978 MIR4487 microRNA 4487 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 47422521 47422593 + 47400970 47401042 + 16381832;20733160 100616222 ABBA01060716;AC090559;AMYH02024730;NR_039707 APPROVED ncrna ENSG00000264583 HGNC:41851 PROVISIONAL 5133885 MIR4488 microRNA 4488 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 61276068 61276129 + 61508596 61508657 + 16381832;20733160 100616470 AMYH02024879;AP003108;NR_039708 APPROVED ncrna ENSG00000266006 HGNC:41599 PROVISIONAL 5133870 MIR4489 microRNA 4489 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 65416663 65416724 + 65649192 65649253 + 16381832;20733160;21199797 100616284 ABBA01024108;AMYH02024961;AP001362;NR_039709 APPROVED ncrna HGNC:41685 PROVISIONAL 5133987 MIR4490 microRNA 4490 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 90288942 90289025 - 90555774 90555857 - 16381832;20733160 100616186 ABBA01040069;AMYH02025321;AP000684;NR_039711 APPROVED ncrna ENSG00000266703 HGNC:41871 PROVISIONAL 5134003 MIR4480 microRNA 4480 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 12620752 12620822 + 12578753 12578823 + 16381832;20733160 100616151 ABBA01034644;AL731559;AMYH02022153;NR_039700 APPROVED ncrna HGNC:41716 PROVISIONAL 5133929 MIR4491 microRNA 4491 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 111218482 111218549 + 111347757 111347824 + 16381832;20733160 100616330 ABBA01039823;AMYH02025571;AP002451;NR_039712 APPROVED ncrna ENSG00000264032 HGNC:41808 PROVISIONAL 5133917 MIR4492 microRNA 4492 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 118781417 118781496 + 118910708 118910787 + 16381832;20733160 100616376 ABBA01039689;AMYH02025657;AP004609;NR_039713 APPROVED ncrna ENSG00000264211 HGNC:41563 PROVISIONAL 5133887 MIR4494 microRNA 4494 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 47757969 47758052 - 47364186 47364269 - 16381832;20733160 100616478 ABBA01031464;AC008083;AMYH02026412;NR_039715 APPROVED ncrna ENSG00000264906 HGNC:41731 PROVISIONAL 5133935 MIR4493 microRNA 4493 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 123252148 123252220 - 123381440 123381512 - 16381832;20733160 100616319 ABBA01031273;AMYH02025716;AP000783;NR_039714 APPROVED ncrna ENSG00000265357 HGNC:41778 PROVISIONAL 5133950 MIR4495 microRNA 4495 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 98332834 98332899 - 97939056 97939121 - 16381832;20733160 100616287 ABBA01053295;AC018474;AMYH02027031;NR_039716 APPROVED ncrna ENSG00000265861 HGNC:41693 PROVISIONAL 5133964 MIR4496 microRNA 4496 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 109029586 109029646 + 108635810 108635870 + 16381832;20733160 100616240 ABBA01053130;AC007569;AMYH02027155;NR_039717 APPROVED ncrna HGNC:41569 PROVISIONAL 5133991 MIR4498 microRNA 4498 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 120593238 120593303 - 120155434 120155499 - 16381832;20733160 100616179 ABBA01020096;AC004812;AMYH02027363;NR_039719 APPROVED ncrna HGNC:41838 PROVISIONAL 5133895 MIR4497 microRNA 4497 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 110271153 110271241 + 109833348 109833436 + 16381832;20733160 100616454 ABBA01005080;AC007834;AMYH02027174;NR_039718 APPROVED ncrna ENSG00000263510 HGNC:41737 PROVISIONAL 5133942 MIR4499 microRNA 4499 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 21007917 21007985 - 20433778 20433846 - 16381832;20733160 100616304 ABBA01068582;AL161715;AMYH02027638;NR_039721 APPROVED ncrna HGNC:41739 PROVISIONAL 1603133 MIR449B microRNA 449b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q11.2 51419320 51419416 - 54466474 54466570 - 55170646 55170742 - 16381832;16505370;17604727;19144710;19960022;21321636;23674142;24086750;24120948 693123 ABBA01015737;AC091977;AMYH02011309;NR_030387 MIRN449B APPROVED ncrna HGNC:32794 613132 PROVISIONAL 3476300 MIR449C microRNA 449c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 51420936 51421027 - 54468090 54468181 - 55172262 55172353 - 6480464 16381832;16954537;19390579 100313923 ABBA01015737;AC091977;AMYH02011309;NR_031572 APPROVED ncrna HGNC:37302 PROVISIONAL 1605754 MIR449A microRNA 449a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q11.2 51419206 51419296 - 54466360 54466450 - 55170532 55170622 - 6480464 15735639;16381832;17604727;19252524;19960022;20356416;20948989;21418558;21602795;21857154;22194996;22266187;22769578;23226395;23298640;23614048;23734217;24120948;24248414;24429361 554213 ABBA01015737;AC091977;AMYH02011309;NR_029960 MIRN449;MIRN449A;hsa-mir-449 APPROVED ncrna HGNC:27645 613131 PROVISIONAL 5133988 MIR4500 microRNA 4500 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 q31.2 88270920 88270995 - 87618665 87618740 - 16381832;20733160 100616182 ABBA01027275;AL355578;AMYH02028424;NR_039722 APPROVED ncrna ENSG00000266052 HGNC:41853 PROVISIONAL 5134007 MIR4501 microRNA 4501 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 97079483 97079546 + 96427229 96427292 + 16381832;20733160 100616137 ABBA01027171;AL139087;AMYH02028535;NR_039723 APPROVED ncrna HGNC:41650 PROVISIONAL 5133970 MIR4502 microRNA 4502 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 115039303 115039383 + 114273828 114273908 + 16381832;20733160 100616227 ABBA01006266;AL160396;AMYH02028757;NR_039724 APPROVED ncrna ENSG00000265450 HGNC:41534 PROVISIONAL 5133945 MIR4503 microRNA 4503 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 37421514 37421596 - 36952309 36952391 - 16381832;20733160 100616280 ABBA01061528;AL121775;AMYH02029029;NR_039725 APPROVED ncrna HGNC:41675 PROVISIONAL 5133957 MIR4504 microRNA 4504 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 50766573 50766664 - 50299855 50299946 - 16381832;20733160 100616261 ABBA01018131;AL359397;AMYH02029168;NR_039726 APPROVED ncrna HGNC:41624 PROVISIONAL 5133997 MIR4505 microRNA 4505 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 74225450 74225522 + 73758747 73758819 + 16381832;20733160 100616158 ABBA01030746;AC006146;AMYH02029496;NR_039727 APPROVED ncrna ENSG00000264741 HGNC:41743 PROVISIONAL 5134850 MIR4507 microRNA 4507 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 106324293 106324344 - 105858124 105858175 - 16381832;20733160 100616135 ABBA01074084;AC246787;AL122127;NR_039730 APPROVED ncrna ENSG00000276195 HGNC:41642 PROVISIONAL 5134009 MIR4506 microRNA 4506 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 94414572 94414648 - 93948226 93948302 - 16381832;20733160 100616140 ABBA01030427;AL079302;AMYH02029777;NR_039728 APPROVED ncrna HGNC:41663 PROVISIONAL 5133955 MIR4508 microRNA 4508 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 23807209 23807278 - 23562062 23562131 - 16381832;20733160 100616275 ABBA01048679;AC126407;AMYH02030085;NR_039731 APPROVED ncrna ENSG00000265673 HGNC:41659 PROVISIONAL 5133972 MIR4509-1 microRNA 4509-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 22675148 22675241 - 23197827 23197920 + 16381832;20733160 100616223 ABBA01111574;AC116165;AMYH02030022;NR_039732 APPROVED ncrna ENSG00000276941 HGNC:41860 PROVISIONAL 5133968 MIR4509-2 microRNA 4509-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 28671637 28671730 + 28426491 28426584 + 16381832;20733160 100616228 AC091304;AC138747;AC243913;NR_039733 APPROVED ncrna ENSG00000266039 HGNC:41537 PROVISIONAL 5133915 MIR4509-3 microRNA 4509-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 28735898 28735991 - 28490752 28490845 - 16381832;20733160 100616382 AC138749;AC243913;NR_039734 APPROVED ncrna ENSG00000263964 HGNC:41610 PROVISIONAL 1605753 MIR450A1 microRNA 450a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134061199 134061289 - 133674371 133674461 - 134540341 134540431 - 6480464 15735639;15965474;16274478;16381832;17604727;23226537 554214 ABBA01042454;AC004383;AMYH02040528;NR_029962 MIRN450;MIRN450-1;MIRN450A-1;MIRN450A1;hsa-mir-450 APPROVED ncrna ENSG00000199132 HGNC:28008 PROVISIONAL 2290251 MIR450B microRNA 450b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134061043 134061120 - 133674215 133674292 - 134540185 134540262 - 16381832;17604727;23665678 100126302 ABBA01042454;AC004383;AMYH02040528;NR_030587 MIRN450B APPROVED ncrna HGNC:33642 PROVISIONAL 5133949 MIR4510 microRNA 4510 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 36219057 36219124 + 35926856 35926923 + 16381832;20733160 100616293 ABBA01038500;AC100828;AMYH02030193;NR_039735 APPROVED ncrna HGNC:41708 PROVISIONAL 5133918 MIR4511 microRNA 4511 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 66011584 66011670 - 65719246 65719332 - 16381832;20733160;21785231 100616379 ABBA01038843;AC011939;AMYH02030632;NR_039736 APPROVED ncrna HGNC:41589 PROVISIONAL 1603436 MIR450A2 microRNA 450a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134061366 134061465 - 133674538 133674637 - 134540508 134540607 - 15735639;15965474;16274478;16381832;17604727 574505 ABBA01042454;AC004383;AMYH02040528;NR_030227 MIRN450-2;MIRN450A-2;MIRN450A2 APPROVED ncrna ENSG00000207755 HGNC:32137 PROVISIONAL 5133989 MIR4513 microRNA 4513 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 75081013 75081098 - 74788672 74788757 - 16381832;20733160 100616183 ABBA01060502;AC091230;AMYH02030798;NR_039738 APPROVED ncrna ENSG00000264386 HGNC:41855 PROVISIONAL 5134002 MIR4512 microRNA 4512 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 66789296 66789372 - 66496958 66497034 - 16381832;20733160 100616149 ABBA01038819;AC116913;AMYH02030649;NR_039737 APPROVED ncrna HGNC:41701 PROVISIONAL 5133990 MIR4514 microRNA 4514 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 81289758 81289814 - 80997417 80997473 - 16381832;20733160 100616181 ABBA01060633;AC068870;AMYH02030891;NR_039739 APPROVED ncrna ENSG00000265855 HGNC:41845 PROVISIONAL 5133908 MIR4515 microRNA 4515 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 83736087 83736167 + 83067335 83067415 + 16381832;20733160 100616404 ABBA01029434;AC024270;AMYH02030925;NR_039740 APPROVED ncrna ENSG00000263643 HGNC:41800 PROVISIONAL 5483522 MIR4500HG MIR4500 host gene (non-protein coding) 13 13 13 q31.2 68937429 69164527 - 88096242 88323218 - 87443987 87670963 - 11181995;11329013;11991713 642345 ABBA01027272;ABBA01027273;ABBA01027274;ABBA01027275;ABBA01027276;ABBA01027277;ABBA01027278;AF339814;AL355578;AL359472;AL360267;AL603883;AMYH02028421;AMYH02028422;AMYH02028423;AMYH02028424;BG215598;HG505791;KF455800;KF455805;KF455810;NR_033829 Hs.508337 1696360;1738383;2170783;2175087;2187211 D13S657E;RH77899;SHGC-14760;SHGC-77807;WIAF-2207 RP11-342C20.3 ncrna ENSG00000228824 HGNC:42773 VALIDATED 5133961 MIR4516 microRNA 4516 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 2183120 2183205 + 2133119 2133204 + 16381832;20733160;24610393 100616258 ABBA01030274;AC009065;AMYH02031245;NR_039741 APPROVED ncrna ENSG00000265867 HGNC:41617 PROVISIONAL 5133882 MIR4517 microRNA 4517 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 28969904 28969982 + 28958583 28958661 + 16381832;20733160 100616487 ABBA01045681;AC109460;AMYH02031819;NR_039742 APPROVED ncrna HGNC:41878 PROVISIONAL 5133909 MIR4518 microRNA 4518 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 30515240 30515322 + 30503919 30504001 + 16381832;20733160 100616405 ABBA01042032;AC116348;AC243616;NR_039743 APPROVED ncrna HGNC:41809 PROVISIONAL 5133966 MIR4519 microRNA 4519 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 30886587 30886644 - 30875266 30875323 - 16381832;20733160 100616231 ABBA01042066;AC135048;AMYH02031833;NR_039744 APPROVED ncrna HGNC:41544 PROVISIONAL 1603788 MIR451A microRNA 451a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q11.2 24047811 24047882 - 27188387 27188458 - 28861369 28861440 - 6480464;8554872 15891114;16274478;16381832;17604727;17964546;18303114;18619946;18645025;19318487;20075508;20218812;20227367;20461517;20699384;20816946;21358675;21464222;21511335;21875770;21948564;22046085;22179124;22440013;23053883;23146892;23367447;23609190;23740840;23886157;23899558;24138931;24209750;24375455;24574214 574411 ABBA01015038;AC024267;AMYH02033231;NR_029970 MIR451;MIRN451;hsa-mir-451;hsa-mir-451a APPROVED ncrna ENSG00000273915 HGNC:32053 612071 PROVISIONAL 5134128 MIR451B microRNA 451b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 27188389 27188456 + 28861371 28861438 + 16381832;21199797 100616273 ABBA01015038;AC024267;AMYH02033231;NR_039876 APPROVED ncrna HGNC:41655 PROVISIONAL 5133865 MIR4520-1 microRNA 4520-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 6558759 6558828 - 6655440 6655509 - 16381832;20733160;21199797;21807764 100616401 AC004706;AMYH02032876;NR_039745 MIR4520A APPROVED ncrna ENSG00000264468 HGNC:41775 PROVISIONAL 1603787 MIR452 microRNA 452 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q28 151373691 151373775 - 151128100 151128184 - 151959628 151959712 - 6480464 15891114;15965474;16274478;16381832;17604727;17616659;19127597;23695168;24648265 574412 ABBA01037272;AF274855;AMYH02040783;AY785920;AY882269;NR_029973 MIRN452;hsa-mir-452 APPROVED ncrna HGNC:32054 PROVISIONAL 5133903 MIR4521 microRNA 4521 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 8090263 8090322 + 8186945 8187004 + 16381832;20733160 100616406 ABBA01054901;AC129492;AMYH02032922;NR_039746 APPROVED ncrna HGNC:41813 PROVISIONAL 5134012 MIR4523 microRNA 4523 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 27717680 27717748 + 29390662 29390730 + 16381832;20733160 100616122 AC068025;AMYH02033245;NR_039749 APPROVED ncrna ENSG00000263719 HGNC:41583 PROVISIONAL 5133954 MIR4522 microRNA 4522 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 25620936 25621022 - 27293910 27293996 - 16381832;20733160 100616277 ABBA01015072;AC026254;AMYH02033208;NR_039748 APPROVED ncrna ENSG00000263583 HGNC:41668 PROVISIONAL 5133873 MIR4526 microRNA 4526 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 13611113 13611199 + 13611114 13611200 + 16381832;20733160;21199797 100616130 ABBA01074042;AMYH02034350;AP001010;NR_039752 APPROVED ncrna HGNC:41618 PROVISIONAL 5133866 MIR4524A microRNA 4524a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 67095705 67095773 - 69099564 69099632 - 16381832;20733160;21199797;21807764;21911355 100616316 ABBA01028950;AC005495;AMYH02033879;NR_039750 MIR4524;hsa-mir-4524a APPROVED ncrna HGNC:41771 PROVISIONAL 5133981 MIR4525 microRNA 4525 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 80626109 80626183 - 82668233 82668307 - 16381832;20733160 100616196 ABBA01019694;AC024361;AMYH02034166;NR_039751 APPROVED ncrna HGNC:41903 PROVISIONAL 5133952 MIR4527 microRNA 4527 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 44906867 44906936 + 47380496 47380565 + 16381832;20733160 100616264 ABBA01018619;AC091020;AMYH02034666;NR_039753 APPROVED ncrna ENSG00000266582 HGNC:41633 PROVISIONAL 5133868 MIR4529 microRNA 4529 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 53146452 53146529 + 55479221 55479298 + 16381832;20733160;21199797 100616290 ABBA01056115;AC018994;AC090684;AMYH02034773;NR_039754 APPROVED ncrna ENSG00000264571 HGNC:41703 PROVISIONAL 5133999 MIR4530 microRNA 4530 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 39900263 39900318 - 39409623 39409678 - 16381832;20733160 100616163 ABBA01040729;AC011500;AMYH02036093;NR_039755 APPROVED ncrna ENSG00000266559 HGNC:41764 PROVISIONAL 5134026 MIR4520-2 microRNA 4520-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 6558768 6558821 + 6655449 6655502 + 16381832;21199797 100616466 AC004706;AMYH02032876;NR_039874 MIR4520B APPROVED ncrna HGNC:41839 PROVISIONAL 5133922 MIR4531 microRNA 4531 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 45156956 45157002 - 44653686 44653732 - 16381832;20733160 100616355 ABBA01040880;AC068948;AC243964;NR_039756 APPROVED ncrna HGNC:41872 PROVISIONAL 5133926 MIR4532 microRNA 4532 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 56470450 56470500 + 57895394 57895444 + 16381832;20733160 100616353 ABBA01052933;AL162291;AMYH02037357;NR_039757 APPROVED ncrna ENSG00000263453 HGNC:41869 PROVISIONAL 5133919 MIR4533 microRNA 4533 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 59053169 59053239 + 60478111 60478181 + 16381832;20733160 100616362 ABBA01005950;AL136143;AMYH02037391;NR_039758 APPROVED ncrna ENSG00000266140 HGNC:41886 PROVISIONAL 5133905 MIR4535 microRNA 4535 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 49176107 49176165 + 48780295 48780353 + 16381832;20733160 100616415 ABBA01031358;AMYH02038567;NR_039761;Z83855 APPROVED ncrna ENSG00000266887 HGNC:41629 PROVISIONAL 5134001 MIR4534 microRNA 4534 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 38384801 38384860 + 37988794 37988853 + 16381832;20733160 100616146 ABBA01055498;AL031587;AMYH02038350;NR_039759 APPROVED ncrna ENSG00000264505 HGNC:41692 PROVISIONAL 5134000 MIR4536-1 microRNA 4536-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 55477893 55477953 + 55451460 55451520 + 8554872 16381832;20733160;21911355 100616155 ABBA01069526;AL590410;AMYH02039501;NR_039764 MIR4536;hsa-mir-4536-1 APPROVED ncrna HGNC:41730 PROVISIONAL 6483866 MIR4524B microRNA 4524b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 67095683 67095797 + 69099542 69099656 + 16381832;21895886 100847008 ABBA01028950;AC005495;AMYH02033879;NR_049834 ncrna ENSG00000265331 HGNC:43520 PROVISIONAL 5133947 MIR4540 microRNA 4540 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 p13.2 36864251 36864305 - 36864254 36864308 - 16381832;20733160 100616278 ABBA01050410;AL450267;AMYH02019482;NG_033894;NR_039766 APPROVED ncrna HGNC:41670 PROVISIONAL 5134041 MIR4632 microRNA 4632 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 12251762 12251839 + 12191713 12191773 + 8554872 16381832;21199797 100616438 ABBA01003075;AL357835;AMYH02000307;NG_029791;NR_039775 APPROVED ncrna HGNC:41593 PROVISIONAL 1604864 MIR455 microRNA 455 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q32 87619629 87619724 + 116971714 116971809 + 114209434 114209529 + 6480464 15652478;16381832;17604727;17616659;23685355 619556 ABBA01042676;AL445543;AMYH02021517;NG_034260;NR_030255 MIRN455;hsa-mir-455 APPROVED ncrna HGNC:32344 PROVISIONAL 2290264 MIR454 microRNA 454 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q22 53678019 53678133 - 57215119 57215233 - 59137758 59137872 - 6480464 16381832;16954537;17604727 768216 ABBA01041362;AC099850;AMYH02033702;NR_030411 MIRN454;hsa-mir-454 APPROVED ncrna HGNC:33137 PROVISIONAL 5134176 MIR4633 microRNA 4633 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 128433381 128433459 + 129097688 129097766 + 16381832;21199797 100616175 AC008679;AMYH02012174;NR_039776 APPROVED ncrna HGNC:41822 PROVISIONAL 5134166 MIR4634 microRNA 4634 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 174178737 174178790 + 174751734 174751787 + 16381832;21199797 100616202 ABBA01044004;AC117531;AMYH02012795;NR_039777 APPROVED ncrna ENSG00000266890 HGNC:41559 PROVISIONAL 5134022 MIR4635 microRNA 4635 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 1063011 1063089 - 1062896 1062974 - 16381832;21199797 100616479 ABBA01034218;AC116351;AC207062;AMYH02010760;NR_039778 APPROVED ncrna HGNC:41748 PROVISIONAL 5134132 MIR4637 microRNA 4637 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 14826038 14826121 - 14825929 14826012 - 16381832;21199797;21606961 100616271 ABBA01020640;AC025456;AMYH02010903;NR_039780 APPROVED ncrna HGNC:41651 PROVISIONAL 5134103 MIR4636 microRNA 4636 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 9053928 9054007 - 9053816 9053895 - 16381832;21199797 100616326 ABBA01020588;AC027336;AMYH02010834;NR_039779 APPROVED ncrna HGNC:41798 PROVISIONAL 5134165 MIR4641 microRNA 4641 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 p21.1 41566461 41566526 + 41598723 41598788 + 16381832;21199797 100616178 ABBA01050753;AL139331;AMYH02013607;NR_039784 APPROVED ncrna HGNC:41835 PROVISIONAL 5134085 MIR4642 microRNA 4642 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 44403378 44403459 + 44435641 44435722 + 16381832;21199797 100616352 ABBA01050639;AL133262;AMYH02013661;NR_039785 APPROVED ncrna HGNC:41865 PROVISIONAL 5134149 MIR4640 microRNA 4640 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 30858660 30858749 + 30890883 30890972 + 8554872 16381832;21199797 100616237 ABBA01038067;AL662854;AL662870;AL773589;AMYH02013438;BX927194;CR759747;CR942271;NR_039783 APPROVED ncrna HGNC:41561 PROVISIONAL 5134173 MIR4643 microRNA 4643 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 92231378 92231455 + 91521660 91521737 + 16381832;21199797 100616174 ABBA01040566;AL512600;AMYH02014109;NR_039786 APPROVED ncrna ENSG00000263734 HGNC:41814 PROVISIONAL 5134119 MIR4645 microRNA 4645 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 2854265 2854341 - 2854031 2854107 - 16381832;21199797 100616285 ABBA01048626;AL139092;AMYH02012987;NR_039788 APPROVED ncrna ENSG00000266750 HGNC:41689 PROVISIONAL 5134148 MIR4646 microRNA 4646 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 31668806 31668868 - 31701029 31701091 - 16381832;21199797 100616230 ABBA01038084;AL662899;AL670886;AL805934;AMYH02013452;BX248244;CR354443;CR753842;CR759787;NR_039789 APPROVED ncrna HGNC:41543 PROVISIONAL 5134130 MIR4639 microRNA 4639 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 16141787 16141855 + 16141556 16141624 + 16381832;21199797 100616269 ABBA01022180;AL021407;AMYH02013176;NR_039782 APPROVED ncrna HGNC:41645 PROVISIONAL 5134094 MIR4638 microRNA 4638 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 180649566 180649633 - 181222566 181222633 - 8554872 16381832;21199797 100616342 ABBA01010096;AC008443;AMYH02012917;NG_030346;NR_039781 APPROVED ncrna ENSG00000264732 HGNC:41841 VALIDATED 5134093 MIR4649 microRNA 4649 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 44150448 44150511 + 44110849 44110912 + 8554872 16381832;21199797 100616346 ABBA01058215;AC006454;AMYH02015616;NR_039792 APPROVED ncrna HGNC:41852 PROVISIONAL 5134110 MIR4650-1 microRNA 4650-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 q11.21 66579309 66579384 - 67114322 67114397 - 16381832;21199797 100616310 ABBA01048952;AC073089;AMYH02015917;NG_033069;NR_039793 APPROVED ncrna ENSG00000266525 HGNC:41755 PROVISIONAL 5134104 MIR4650-2 microRNA 4650-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 q11.22 72162874 72162949 + 72697903 72697978 + 16381832;21199797 100616331 ABBA01063985;AC091738;AC211469;NR_039794 APPROVED ncrna ENSG00000264494 HGNC:41810 PROVISIONAL 5134039 MIR4644 microRNA 4644 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 170639849 170639932 + 170330761 170330844 + 16381832;21199797 100616430 ABBA01030856;AL078605;AMYH02015013;NR_039787 APPROVED ncrna HGNC:41687 PROVISIONAL 5134129 MIR4651 microRNA 4651 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 75544515 75544587 + 75915197 75915269 + 16381832;21199797 100616270 ABBA01005894;AC005067;AMYH02016072;NR_039795 APPROVED ncrna ENSG00000265020 HGNC:41647 PROVISIONAL 5134163 MIR4652 microRNA 4652 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 93346240 93346317 + 93716928 93717005 + 16381832;21199797;21558790;21911355 100616206 ABBA01045789;AC002075;AMYH02016282;NR_039796 APPROVED ncrna ENSG00000265423 HGNC:41615 PROVISIONAL 5134198 MIR4653 microRNA 4653 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 100802754 100802836 + 101159473 101159555 + 16381832;21199797 100616117 ABBA01011349;AC004876;AMYH02016400;NG_033082;NR_039797 APPROVED ncrna HGNC:41562 PROVISIONAL 5134205 MIR4647 microRNA 4647 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 44221943 44222022 - 44254206 44254285 - 16381832;21199797 100616124 ABBA01050642;AL139392;AMYH02013657;NR_039790 APPROVED ncrna ENSG00000265700 HGNC:41594 PROVISIONAL 5134199 MIR4648 microRNA 4648 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 2566708 2566786 + 2527074 2527145 + 16381832;21199797 100616116 ABBA01039378;AC092488;AMYH02015075;NG_008109;NR_039791 APPROVED ncrna HGNC:41560 PROVISIONAL 5134068 MIR4654 microRNA 4654 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 162126897 162126972 + 162157107 162157182 + 16381832;21199797 100616386 ABBA01047309;AL450163;AMYH02002035;NR_039798 APPROVED ncrna HGNC:41643 PROVISIONAL 5134037 MIR4656 microRNA 4656 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 4828196 4828270 - 4788565 4788639 - 16381832;21199797 100616465 ABBA01039430;AC092610;AMYH02015121;NR_039800 APPROVED ncrna ENSG00000264474 HGNC:41749 PROVISIONAL 5134063 MIR4657 microRNA 4657 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 44921347 44921399 - 44881748 44881800 - 16381832;21199797 100616393 ABBA01058239;AC004854;AMYH02015630;NR_039801 APPROVED ncrna ENSG00000264326 HGNC:41706 PROVISIONAL 5134089 MIR4659A microRNA 4659a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 6602685 6602765 + 6745164 6745244 + 16381832;21199797 100616348 ABBA01007056;AF287957;AMYH02017290;NR_039803 APPROVED ncrna HGNC:41857 PROVISIONAL 5134033 MIR4658 microRNA 4658 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 99754228 99754292 - 100156605 100156669 - 8554872 16381832;21199797 100616439 ABBA01013232;AC073842;AMYH02016374;NR_039802 APPROVED ncrna HGNC:41673 PROVISIONAL 5134071 MIR4659B microRNA 4659b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 6602689 6602761 - 6745168 6745240 - 16381832;21199797 100616372 ABBA01007056;AF287957;AMYH02017290;NR_039807 APPROVED ncrna HGNC:41530 PROVISIONAL 5134092 MIR4660 microRNA 4660 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8905955 8906028 + 9048445 9048518 + 16381832;21199797;23049088 100616350 ABBA01026910;AC087579;AMYH02017401;NR_039804 APPROVED ncrna ENSG00000263407 HGNC:41861 PROVISIONAL 5134143 MIR4661 microRNA 4661 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 92217713 92217787 + 91205485 91205559 + 16381832;21199797 100616245 ABBA01037417;AC104966;AMYH02018401;NR_039805 APPROVED ncrna HGNC:41582 PROVISIONAL 5134150 MIR4662A microRNA 4662a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 125834227 125834293 + 124821985 124822051 + 16381832;21199797;21807764;21911355 100616221 ABBA01037904;AC100858;AMYH02018722;NR_039806 APPROVED ncrna HGNC:41826 PROVISIONAL 5134137 MIR4662B microRNA 4662b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 125834220 125834300 - 124821978 124822058 - 16381832;21199797 100616255 ABBA01037904;AC100858;AMYH02018722;NR_039809 APPROVED ncrna ENSG00000263735 HGNC:41607 PROVISIONAL 5134136 MIR4663 microRNA 4663 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 124228028 124228103 - 123215788 123215863 - 16381832;21199797 100616260 ABBA01037869;AC068228;AMYH02018703;NR_039808 APPROVED ncrna ENSG00000266324 HGNC:41623 PROVISIONAL 5134179 MIR4655 microRNA 4655 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 1883816 1883889 - 1844180 1844253 - 16381832;21199797 100616160 ABBA01039356;AC104129;AMYH02015060;NR_039799 APPROVED ncrna HGNC:41754 PROVISIONAL 5134106 MIR4664 microRNA 4664 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 144815253 144815323 - 143733083 143733153 - 8554872 16381832;21199797 100616318 ABBA01005242;AC105219;AMYH02018947;NR_039810 APPROVED ncrna ENSG00000265660 HGNC:41777 PROVISIONAL 5134124 MIR4665 microRNA 4665 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 6007826 6007904 + 6007826 6007904 + 16381832;21199797 100616288 ABBA01065405;AL162384;AMYH02019089;NR_039811 APPROVED ncrna ENSG00000263575 HGNC:41696 PROVISIONAL 5134156 MIR4667 microRNA 4667 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 35608091 35608156 + 35608094 35608159 + 8554872 16381832;21199797;22454130 100616214 ABBA01064989;AL357874;AMYH02019463;NR_039813 APPROVED ncrna HGNC:41723 PROVISIONAL 5134151 MIR4669 microRNA 4669 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 137271257 137271318 + 134379411 134379472 + 16381832;21199797 100616236 ABBA01017194;AC156789;AMYH02021851;NR_039816 APPROVED ncrna HGNC:41558 PROVISIONAL 5134091 MIR4670 microRNA 4670 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 95290266 95290340 - 92527984 92528058 - 16381832;21199797 100616351 AL157827;AMYH02021222;NR_039817 APPROVED ncrna ENSG00000264158 HGNC:41862 PROVISIONAL 5134069 MIR4671 microRNA 4671 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 234442213 234442285 + 234306467 234306539 + 16381832;21199797 100616380 ABBA01033094;AL122008;AMYH02002923;NR_039818 APPROVED ncrna HGNC:41598 PROVISIONAL 5134045 MIR4672 microRNA 4672 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 130631694 130631774 - 127869415 127869495 - 16381832;21199797 100616429 ABBA01043850;AL157935;AMYH02021699;NR_039819 APPROVED ncrna HGNC:41662 PROVISIONAL 5134145 MIR4673 microRNA 4673 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 139414020 139414078 - 136519568 136519626 - 16381832;21199797 100616242 ABBA01022710;AL592301;AMYH02021902;NR_039820 APPROVED ncrna HGNC:41574 PROVISIONAL 5134113 MIR4674 microRNA 4674 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 139440625 139440711 - 136546173 136546259 - 16381832;21199797 100616301 AL354671;AMYH02021903;NR_039821 APPROVED ncrna ENSG00000265181 HGNC:41729 PROVISIONAL 5134067 MIR4675 microRNA 4675 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 20840899 20840975 + 20551970 20552046 + 16381832;21199797 100616383 ABBA01034507;AL590032;AMYH02022409;NR_039822 APPROVED ncrna ENSG00000265372 HGNC:41619 PROVISIONAL 8698877 MIR4674HG MIR4674 host gene (non-protein coding) 9 9 q34.3 139441262 139444883 + 136546206 136550431 + 16344560 101928483 ABBA01022711;AL354671;AMYH02021903;AW449200;DA924831;HG502545;NG_007458;NR_121577;XR_252670;XR_252671;XR_426454;XR_426455;XR_426456;XR_426457;XR_426458;XR_428614;XR_428615;XR_428616;XR_428617;XR_428618;XR_428619;XR_432515;XR_432516;XR_432517;XR_432518 Hs.170035;Hs.635171 ncrna HGNC:51192 VALIDATED 5134123 MIR4676 microRNA 4676 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 74480787 74480858 + 72721029 72721100 + 16381832;21199797 100616286 ABBA01020348;AC016542;AMYH02023325;NR_039823 APPROVED ncrna HGNC:41691 PROVISIONAL 5134202 MIR4668 microRNA 4668 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 114694380 114694449 + 111932100 111932169 + 16381832;21199797 100616114 ABBA01042720;AL442066;AMYH02021480;NR_039814 APPROVED ncrna HGNC:41545 PROVISIONAL 6483905 MIR4666B microRNA 4666b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 29592395 29592475 + 29574278 29574358 + 16381832;21980368 100847047 ABBA01072846;AC129852;AMYH02039096;NR_049877 ncrna HGNC:43486 PROVISIONAL 5134090 MIR4677 microRNA 4677 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 243509478 243509557 + 243346176 243346255 + 16381832;21199797;21807764;21911355 100616343 ABBA01047216;AC092806;AMYH02003066;NR_039824 APPROVED ncrna HGNC:41844 PROVISIONAL 5134116 MIR4678 microRNA 4678 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 89263638 89263711 + 87503881 87503954 + 16381832;21199797 100616296 ABBA01021967;AL355334;AMYH02023500;NR_039825 APPROVED ncrna HGNC:41717 PROVISIONAL 5134108 MIR4666A microRNA 4666a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 228649775 228649853 + 228462074 228462152 + 16381832;21199797 100616308 AL139288;AMYH02002845;NR_039812 MIR4666;hsa-mir-4666a APPROVED ncrna ENSG00000266174 HGNC:41750 PROVISIONAL 5134195 MIR4679-1 microRNA 4679-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 90823093 90823167 + 89063336 89063410 + 16381832;21199797 100616128 AL391318;AMYH02023508;NR_039826 APPROVED ncrna HGNC:41612 PROVISIONAL 5134169 MIR4679-2 microRNA 4679-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 90823092 90823168 - 89063335 89063411 - 16381832;21199797 100616192 AL391318;AMYH02023508;NR_039827 APPROVED ncrna ENSG00000265375 HGNC:41890 PROVISIONAL 5134204 MIR4680 microRNA 4680 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 112657848 112657913 + 110898090 110898155 + 16381832;21199797 100616113 ABBA01063020;AL158163;AMYH02023801;NR_039828 APPROVED ncrna ENSG00000265827 HGNC:41541 PROVISIONAL 5134851 MIR4683 microRNA 4683 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 35930100 35930180 - 35641172 35641252 - 16381832;21199797 100616500 ABBA01033331;AL121749;AMYH02022630;NG_029968;NR_039831 APPROVED ncrna HGNC:41883 VALIDATED 5134105 MIR4682 microRNA 4682 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 121718025 121718104 + 119958513 119958592 + 16381832;21199797 100616322 ABBA01062880;AC027672;AMYH02023916;NR_039830 APPROVED ncrna ENSG00000265370 HGNC:41788 PROVISIONAL 5134021 MIR4685 microRNA 4685 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 100191049 100191117 - 98431292 98431360 - 16381832;21199797 100616482 ABBA01021778;AL139243;AMYH02023623;NR_039833 APPROVED ncrna HGNC:41802 PROVISIONAL 5134201 MIR4686 microRNA 4686 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 2194293 2194368 + 2173063 2173138 + 8554872 16381832;21199797 100616126 ABBA01032100;AC132217;AMYH02024187;NR_039834 APPROVED ncrna ENSG00000265258 HGNC:41601 PROVISIONAL 5134064 MIR4684 microRNA 4684 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 23046010 23046091 + 22719517 22719598 + 16381832;21199797;21558790 100616391 ABBA01059854;AL611946;AMYH02000479;NR_039832 APPROVED ncrna HGNC:41695 PROVISIONAL 5134035 MIR4687 microRNA 4687 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 3877292 3877371 + 3856062 3856141 + 16381832;21199797 100616453 ABBA01032047;AC090804;AMYH02024233;NR_039835 APPROVED ncrna ENSG00000263421 HGNC:41712 PROVISIONAL 5134049 MIR4689 microRNA 4689 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 5922732 5922801 - 5862672 5862741 - 16381832;21199797 100616421 ABBA01035430;AL356693;AMYH02000163;NR_039838 APPROVED ncrna ENSG00000264101 HGNC:41895 PROVISIONAL 5134120 MIR4690 microRNA 4690 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 65403781 65403840 + 65636310 65636369 + 16381832;21199797 100616292 ABBA01024108;AMYH02024961;AP001362;NR_039839 APPROVED ncrna HGNC:41707 PROVISIONAL 5134029 MIR4693 microRNA 4693 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 103720634 103720708 + 103849906 103849980 + 16381832;21199797 100616457 ABBA01039922;AMYH02025498;AP002989;NR_039842 APPROVED ncrna ENSG00000264200 HGNC:41818 PROVISIONAL 5134061 MIR4681 microRNA 4681 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 121137484 121137555 + 119377972 119378043 + 16381832;21199797 100616398 ABBA01062899;AL583824;AMYH02023906;NR_039829 APPROVED ncrna HGNC:41753 PROVISIONAL 5134044 MIR4694 microRNA 4694 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 19781550 19781629 - 19760004 19760083 - 16381832;21199797 100616426 ABBA01061035;AC009549;AMYH02024408;NG_030347;NR_039843 APPROVED ncrna ENSG00000264309 HGNC:41586 VALIDATED 5134055 MIR4691 microRNA 4691 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 67801364 67801448 + 68033897 68033981 + 8554872 16381832;21199797 100616403 ABBA01024019;AMYH02025001;AP002807;NR_039840 APPROVED ncrna HGNC:41796 PROVISIONAL 5134053 MIR4692 microRNA 4692 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 72494575 72494637 + 72783530 72783592 + 16381832;21199797 100616410 ABBA01017531;AMYH02025080;AP002381;NR_039841 APPROVED ncrna ENSG00000265064 HGNC:41856 PROVISIONAL 5134196 MIR4695 microRNA 4695 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 19209696 19209769 - 18883202 18883275 - 8554872 16381832;21199797 100616120 ABBA01059748;AL954340;AMYH02000416;NR_039844 APPROVED ncrna HGNC:41573 PROVISIONAL 5134059 MIR4696 microRNA 4696 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 74431313 74431382 - 74720268 74720337 - 16381832;21199797 100616402 ABBA01017480;AMYH02025109;AP001324;NR_039845 APPROVED ncrna HGNC:41780 PROVISIONAL 5134854 MIR4697 microRNA 4697 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 q25 133768399 133768476 - 133898504 133898581 - 16381832;21199797 100616119 ABBA01031107;AMYH02025829;AP001979;NR_039846 APPROVED ncrna ENSG00000264919 HGNC:41570 PROVISIONAL 5134019 MIR4698 microRNA 4698 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 47581595 47581674 + 47187812 47187891 + 16381832;21199797 100616486 ABBA01031463;AC008083;AMYH02026412;NR_039847 APPROVED ncrna ENSG00000263838 HGNC:41867 PROVISIONAL 5134193 MIR4699 microRNA 4699 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 81552167 81552240 + 81158388 81158461 + 16381832;21199797;21558790 100616133 AC134506;AMYH02026832;NR_039848 APPROVED ncrna HGNC:41636 PROVISIONAL 5134852 MIR4700 microRNA 4700 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 121160996 121161069 + 120723193 120723266 + 8554872 16381832;21199797;21886157 100616329 ABBA01020134;AC069234;AMYH02027380;NR_039849 APPROVED ncrna ENSG00000265455 HGNC:41806 PROVISIONAL 5134134 MIR4701 microRNA 4701 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 49165758 49165820 - 48771975 48772037 - 16381832;21199797 100616262 ABBA01031486;AC117498;AMYH02026426;NR_039850 APPROVED ncrna HGNC:41627 PROVISIONAL 5134046 MIR4703 microRNA 4703 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 52126725 52126803 + 51552589 51552667 + 16381832;21199797 100616423 ABBA01051050;AL354820;AMYH02028034;NR_039852 APPROVED ncrna ENSG00000266611 HGNC:41817 PROVISIONAL 5134160 MIR4704 microRNA 4704 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 66792382 66792456 + 66218250 66218324 + 16381832;21199797 100616205 ABBA01050278;AL136145;AMYH02028191;NR_039853 APPROVED ncrna ENSG00000263561 HGNC:41602 PROVISIONAL 5134141 MIR4705 microRNA 4705 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 102698284 102698354 - 102045934 102046004 - 16381832;21199797 100616239 ABBA01027078;AL512629;AMYH02028623;NR_039854 APPROVED ncrna HGNC:41567 PROVISIONAL 2290505 MIR4697HG MIR4697 host gene (non-protein coding) INTERACTS WITH silicon dioxide 11 11 11 q25 130940310 130945614 - 133766330 133771635 - 133896435 133901740 - 6480464 12477932 283174 Q6AWC8 ABBA01031107;AK123849;AL133591;AMYH02025829;AP001979;BC101691;BC104851;BC106032;BX641055;CH471065;NR_024344 BAC85707;CAH10550;EAW67813;Q6AWC8 Hs.504370 2182448;5493323 SHGC-53326;UniSTS:485714 LINC00947;MGC117185;MGC126740 APPROVED ncrna ENSG00000280237 HGNC:27448 17328 VALIDATED 5134078 MIR4688 microRNA 4688 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 46397952 46398034 + 46376402 46376484 + 8554872 16381832;21199797 100616368 ABBA01060748;AC116021;AMYH02024699;NR_039837 APPROVED ncrna HGNC:41897 PROVISIONAL 5134051 MIR4707 microRNA 4707 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 23426159 23426238 - 22956950 22957029 - 16381832;21199797 100616424 ABBA01061296;AL132780;AMYH02028856;NR_039856 APPROVED ncrna ENSG00000265037 HGNC:41531 PROVISIONAL 5134170 MIR4708 microRNA 4708 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 65801835 65801901 - 65335117 65335183 - 16381832;21199797 100616176 AL359236;AMYH02029375;NR_039857 APPROVED ncrna ENSG00000266740 HGNC:41824 PROVISIONAL 5134018 MIR4706 microRNA 4706 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 65511406 65511487 + 65044688 65044769 + 16381832;21199797 100616490 ABBA01018377;AL139022;AMYH02029367;NG_029830;NR_039855 APPROVED ncrna HGNC:41576 VALIDATED 5134159 MIR4709 microRNA 4709 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 74946836 74946907 - 74480133 74480204 - 16381832;21199797 100616211 ABBA01030717;AC005479;AMYH02029519;NR_039858 APPROVED ncrna ENSG00000265649 HGNC:41690 PROVISIONAL 5134118 MIR4710 microRNA 4710 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 105144031 105144086 - 104677694 104677749 - 16381832;21199797 100616300 ABBA01002990;AL583722;AMYH02029950;NR_039860 APPROVED ncrna ENSG00000265291 HGNC:41727 PROVISIONAL 5134054 MIR4711 microRNA 4711 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 60198899 60198968 - 59733227 59733296 - 16381832;21199797 100616409 ABBA01074648;AL954338;AMYH02001105;NG_030039;NR_039861 APPROVED ncrna ENSG00000266150 HGNC:41847 VALIDATED 5134081 MIR4713 microRNA 4713 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 51534387 51534461 + 51242190 51242264 + 16381832;21199797;21558790;22675492 100616369 AC012169;AMYH02030430;NR_039863 APPROVED ncrna ENSG00000266593 HGNC:41899 PROVISIONAL 5134060 MIR4712 microRNA 4712 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 50652526 50652607 + 50360329 50360410 + 16381832;21199797 100616396 ABBA01039115;AC022087;AMYH02030401;NR_039862 APPROVED ncrna ENSG00000264109 HGNC:41732 PROVISIONAL 5134038 MIR4714 microRNA 4714 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 99327655 99327731 + 98784426 98784502 + 16381832;21199797 100616432 ABBA01020565;AC055807;AMYH02031142;NR_039864 APPROVED ncrna HGNC:41763 PROVISIONAL 5134024 MIR4715 microRNA 4715 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 26093894 26093972 - 25848747 25848825 - 16381832;21199797 100616474 AC016266;AMYH02030102;NR_039865 APPROVED ncrna HGNC:41666 PROVISIONAL 5134101 MIR4716 microRNA 4716 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 49461267 49461350 - 49169070 49169153 - 16381832;21199797 100616332 ABBA01039130;AC013452;AMYH02030392;NR_039866 APPROVED ncrna ENSG00000264210 HGNC:41812 PROVISIONAL 5134142 MIR4717 microRNA 4717 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 2324621 2324692 + 2274620 2274691 + 16381832;21199797 100616241 AC009065;AMYH02031249;NR_039868 APPROVED ncrna ENSG00000264004 HGNC:41571 PROVISIONAL 5134167 MIR4718 microRNA 4718 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 12814178 12814228 + 12720321 12720371 + 16381832;21199797 100616195 ABBA01006855;AC109597;AMYH02031510;NR_039869 APPROVED ncrna ENSG00000264733 HGNC:41900 PROVISIONAL 5134175 MIR4719 microRNA 4719 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 76902833 76902916 + 76868936 76869019 + 16381832;21199797 100616172 AC106734;AMYH02032421;NR_039870 APPROVED ncrna ENSG00000266426 HGNC:41807 PROVISIONAL 5134139 MIR4721 microRNA 4721 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 28855240 28855328 - 28843919 28844007 - 16381832;21199797 100616256 ABBA01045688;AC133550;AMYH02031814;NR_039872 APPROVED ncrna HGNC:41609 PROVISIONAL 5134186 MIR4720 microRNA 4720 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 q23.2 81418623 81418698 + 81385018 81385093 + 6480464 16381832;21199797 100616150 ABBA01016966;AC092139;AMYH02032508;NR_039871 APPROVED ncrna ENSG00000273048 HGNC:41705 PROVISIONAL 5134178 MIR4722 microRNA 4722 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 88782686 88782745 - 88716278 88716337 - 8554872 16381832;21199797 100616167 ABBA01015845;AC138028;AMYH02032643;NR_039873 APPROVED ncrna HGNC:41782 PROVISIONAL 5134066 MIR4723 microRNA 4723 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 26687677 26687757 + 28360654 28360734 + 16381832;21199797;24223753 100616388 ABBA01015060;AC002094;AMYH02033222;NR_039875 APPROVED ncrna HGNC:41660 PROVISIONAL 5134034 MIR4725 microRNA 4725 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 29902288 29902377 + 31575269 31575358 + 16381832;21199797 100616449 ABBA01014956;AC003101;AMYH02033303;NR_039878 APPROVED ncrna ENSG00000265976 HGNC:41608 PROVISIONAL 5134052 MIR4727 microRNA 4727 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 36982091 36982145 + 38825838 38825892 + 16381832;21199797 100616416 ABBA01031897;AC006449;AMYH02033366;NR_039880 APPROVED ncrna ENSG00000274054 HGNC:41709 PROVISIONAL 5134138 MIR4724 microRNA 4724 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 29861901 29861989 + 31534883 31534971 + 16381832;21199797 100616248 ABBA01014958;AC003101;AMYH02033303;NR_039877 APPROVED ncrna ENSG00000266459 HGNC:41590 PROVISIONAL 5134192 MIR4728 microRNA 4728 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 37882748 37882814 + 39726495 39726561 + 16381832;21199797 100616132 ABBA01031858;AC087491;AMYH02033388;NR_039881 APPROVED ncrna HGNC:41632 PROVISIONAL 5134161 MIR4729 microRNA 4729 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 57443444 57443515 + 59366083 59366154 + 16381832;21199797 100616204 ABBA01041378;AC091059;AMYH02033710;NR_039882 APPROVED ncrna HGNC:41585 PROVISIONAL 5134084 MIR4730 microRNA 4730 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 78393218 78393293 + 80419418 80419493 + 8554872 16381832;21199797 100616359 ABBA01015400;AC120024;AMYH02034106;NR_039883 APPROVED ncrna HGNC:41880 PROVISIONAL 5134189 MIR4726 microRNA 4726 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 36875944 36876001 + 38719691 38719748 + 16381832;21199797 100616153 ABBA01031904;AC006449;AMYH02033362;NR_039879 APPROVED ncrna HGNC:41722 PROVISIONAL 5134200 MIR4731 microRNA 4731 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 15154944 15155013 - 15251627 15251696 - 16381832;21199797 100616125 AC005703;AMYH02033048;NR_039884 APPROVED ncrna HGNC:41597 PROVISIONAL 5134065 MIR4732 microRNA 4732 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 27188673 27188748 - 28861655 28861730 - 16381832;21199797 100616385 ABBA01015038;AC024267;AMYH02033231;NR_039885 APPROVED ncrna ENSG00000278521 HGNC:41639 PROVISIONAL 5134131 MIR4733 microRNA 4733 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 29421368 29421443 - 31094350 31094425 - 16381832;21199797 100616266 ABBA01014968;AC138207;AMYH02033291;NR_039886 APPROVED ncrna ENSG00000265444 HGNC:41638 VALIDATED 5134162 MIR4734 microRNA 4734 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 36858515 36858584 - 38702262 38702331 - 16381832;21199797 100616203 ABBA01031905;AC006449;AMYH02033361;NR_039887 APPROVED ncrna ENSG00000275238 HGNC:41572 PROVISIONAL 5134080 MIR4735 microRNA 4735 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 196551543 196551611 - 196582413 196582481 - 16381832;21199797 100616363 ABBA01027602;AL591604;AMYH02002426;NR_039888 APPROVED ncrna HGNC:41888 PROVISIONAL 5134157 MIR4736 microRNA 4736 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 56413337 56413383 - 58335976 58336022 - 16381832;21199797 100616220 ABBA01041334;AC004687;AMYH02033687;NR_039889 APPROVED ncrna ENSG00000264399 HGNC:41804 PROVISIONAL 5134158 MIR4737 microRNA 4737 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 58120386 58120466 - 60043025 60043105 - 16381832;21199797 100616210 ABBA01035419;AC005702;AC245758;NR_039890 APPROVED ncrna ENSG00000264049 HGNC:41669 PROVISIONAL 5134174 MIR4739 microRNA 4739 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 77680985 77681058 - 79707176 79707249 - 16381832;21199797 100616170 ABBA01013832;AC105337;AC233701;NR_039893 APPROVED ncrna ENSG00000266665 HGNC:41801 PROVISIONAL 5134126 MIR4738 microRNA 4738 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 73780602 73780688 - 75784521 75784607 - 16381832;21199797 100616282 ABBA01028771;AC087289;AMYH02034001;NR_039892 APPROVED ncrna ENSG00000263565 HGNC:41679 PROVISIONAL 5134194 MIR4741 microRNA 4741 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 20513312 20513401 + 22933349 22933438 + 16381832;21199797 100616139 ABBA01022652;AC091147;AMYH02034405;NR_039895 APPROVED ncrna ENSG00000264817 HGNC:41661 PROVISIONAL 5134115 MIR4740 microRNA 4740 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 79374516 79374578 - 81400716 81400778 - 16381832;21199797 100616294 ABBA01032144;AC110285;AMYH02034127;NR_039894 APPROVED ncrna ENSG00000266392 HGNC:41711 PROVISIONAL 5134030 MIR4742 microRNA 4742 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 224585929 224586013 - 224398227 224398311 - 16381832;21199797;21807764 100616468 ABBA01009696;AC099790;AMYH02002773;NR_039896 APPROVED ncrna HGNC:41565 PROVISIONAL 5134082 MIR4743 microRNA 4743 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 46196971 46197039 + 48670600 48670668 + 16381832;21199797;22454130 100616366 ABBA01018639;AC048380;AMYH02034684;NR_039897 APPROVED ncrna HGNC:41894 PROVISIONAL 5134048 MIR4744 microRNA 4744 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 46576057 46576138 - 49049687 49049768 - 16381832;21199797 100616420 ABBA01018645;AC016866;AMYH02034687;NR_039898 APPROVED ncrna HGNC:41866 PROVISIONAL 5134032 MIR4745 microRNA 4745 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 804940 805001 + 804940 805001 + 16381832;21199797 100616459 ABBA01002596;AC006273;AMYH02035123;NR_039900 APPROVED ncrna HGNC:41868 PROVISIONAL 5134099 MIR4747 microRNA 4747 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 4932699 4932752 + 4932687 4932740 + 16381832;21199797 100616337 ABBA01056031;AC027319;AMYH02035310;NG_033256;NR_039902 APPROVED ncrna HGNC:41827 VALIDATED 5134073 MIR4746 microRNA 4746 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 4445975 4446045 + 4445978 4446048 + 8554872 16381832;21199797 100616371 ABBA01056073;AC011498;AMYH02035287;NR_039901 APPROVED ncrna ENSG00000266437 HGNC:41904 PROVISIONAL 5134047 MIR4748 microRNA 4748 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 10890930 10891011 + 10780254 10780335 + 16381832;21199797 100616425 ABBA01029896;AC112707;AMYH02035505;NR_039903 APPROVED ncrna HGNC:41557 PROVISIONAL 5134111 MIR4749 microRNA 4749 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 50357848 50357908 + 49854591 49854651 + 16381832;21199797 100616313 ABBA01032908;AC018766;AMYH02036332;NR_039904 APPROVED ncrna HGNC:41760 PROVISIONAL 5134112 MIR4750 microRNA 4750 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 50391432 50391487 + 49888175 49888230 + 16381832;21199797 100616314 ABBA01032908;AC118342;AMYH02036332;NR_039905 APPROVED ncrna HGNC:41765 PROVISIONAL 5134171 MIR4752 microRNA 4752 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 54785964 54786035 + 54282109 54282180 + 16381832;21199797 100616171 ABBA01068168;AC010518;AC245052;CU104682;CU457734;CU467018;NR_039907 APPROVED ncrna ENSG00000264703 HGNC:41803 PROVISIONAL 5134020 MIR4751 microRNA 4751 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 50436321 50436394 + 49933064 49933137 + 16381832;21199797 100616483 ABBA01032907;AC011452;AMYH02036335;NR_039906 APPROVED ncrna HGNC:41819 PROVISIONAL 5134177 MIR4754 microRNA 4754 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 58898137 58898225 - 58386770 58386858 - 16381832;21199797 100616168 ABBA01020771;AC012313;AMYH02036533;NR_039910 APPROVED ncrna ENSG00000266640 HGNC:41786 PROVISIONAL 5134147 MIR4753 microRNA 4753 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 235353349 235353431 - 235190034 235190116 - 16381832;21199797 100616224 ABBA01033121;AL133418;AMYH02002940;NR_039908 APPROVED ncrna HGNC:41527 PROVISIONAL 5134152 MIR4756 microRNA 4756 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 52684947 52685024 - 54068408 54068485 - 16381832;21199797 100616225 ABBA01052870;AL354801;AMYH02037306;NR_039913 APPROVED ncrna ENSG00000265595 HGNC:41529 PROVISIONAL 5134040 MIR4755 microRNA 4755 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 32636925 32636996 + 34049119 34049190 + 16381832;21199797;21558790 100616434 ABBA01019212;AL031668;AMYH02036965;NR_039911 APPROVED ncrna ENSG00000264616 HGNC:41815 PROVISIONAL 5134114 MIR4757 microRNA 4757 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 19548190 19548266 + 19348429 19348505 + 16381832;21199797 100616307 ABBA01018493;AC018741;AMYH02003361;NR_039914 APPROVED ncrna ENSG00000266738 HGNC:41746 PROVISIONAL 5134096 MIR4758 microRNA 4758 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 60907543 60907613 - 62332487 62332557 - 16381832;21199797;23535732 100616340 ABBA01040095;AL354836;AMYH02037423;NR_039915 APPROVED ncrna HGNC:41836 PROVISIONAL 5134140 MIR4759 microRNA 4759 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 28326280 28326362 + 26953961 26954043 + 16381832;21199797 100616243 AMYH02037665;AP001601;NR_039916 APPROVED ncrna ENSG00000266133 HGNC:41575 PROVISIONAL 5134185 MIR4760 microRNA 4760 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 41584279 41584358 - 40212352 40212431 - 16381832;21199797 100616148 ABBA01009318;AF064865;AMYH02037838;NR_039917 APPROVED ncrna HGNC:41698 PROVISIONAL 5134057 MIR4761 microRNA 4761 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 19951276 19951357 + 19963753 19963834 + 16381832;21199797 100616414 ABBA01005400;AC005663;AMYH02038055;NR_039918 APPROVED ncrna HGNC:41591 PROVISIONAL 5134190 MIR4763 microRNA 4763 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 46509446 46509537 + 46113566 46113657 + 8554872 16381832;21199797 100616143 ABBA01010438;AL049853;AMYH02038531;FP325332;NR_039920 APPROVED ncrna ENSG00000264147 HGNC:41677 PROVISIONAL 5134117 MIR4764 microRNA 4764 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 33832568 33832655 - 33436582 33436669 - 16381832;21199797 100616295 ABBA01055388;AL008715;AMYH02038276;NR_039921 APPROVED ncrna HGNC:41714 PROVISIONAL 5134135 MIR4762 microRNA 4762 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 46156404 46156478 + 45760524 45760598 + 16381832;21199797 100616253 ABBA01007140;AMYH02038526;NR_039919;Z93784 APPROVED ncrna HGNC:41603 PROVISIONAL 5134153 MIR4765 microRNA 4765 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 32860322 32860398 + 32635255 32635331 + 16381832;21199797 100616219 ABBA01074895;AL133246;AMYH02003554;NR_039922 APPROVED ncrna HGNC:41791 PROVISIONAL 5134121 MIR4766 microRNA 4766 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 41209887 41209962 - 40813883 40813958 - 16381832;21199797 100616283 ABBA01055609;AMYH02038421;NR_039923;Z98048 APPROVED ncrna HGNC:41680 PROVISIONAL 5134025 MIR4767 microRNA 4767 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 7065901 7065978 + 7147860 7147937 + 16381832;21199797 100616467 AC073583;AMYH02038812;NR_039924 APPROVED ncrna ENSG00000264268 HGNC:41548 PROVISIONAL 5134133 MIR4768 microRNA 4768 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 17444004 17444077 + 17425881 17425954 + 16381832;21199797 100616249 ABBA01071540;AC122692;AMYH02038938;NR_039925 APPROVED ncrna HGNC:41592 PROVISIONAL 5134076 MIR4770 microRNA 4770 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 6301947 6302004 - 6383906 6383963 - 16381832;21199797 100616373 ABBA01044633;AC078991;AMYH02038806;NR_039927 APPROVED ncrna ENSG00000265284 HGNC:41542 PROVISIONAL 5134188 MIR4769 microRNA 4769 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 47446828 47446904 + 47587429 47587505 + 16381832;21199797 100616147 ABBA01052382;AMYH02039288;NR_039926;Z84466 APPROVED ncrna ENSG00000263858 HGNC:41694 PROVISIONAL 5134181 MIR4771-2 microRNA 4771-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 112528638 112528711 - 111771061 111771134 - 16381832;21199797 100616165 AC093166;AMYH02004577;NR_039929 APPROVED ncrna HGNC:41774 PROVISIONAL 5134075 MIR4771-1 microRNA 4771-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 87421909 87421982 + 87194786 87194859 + 16381832;21199797 100616370 ABBA01226448;AC083899;AMYH02004218;NR_039928 APPROVED ncrna HGNC:41901 PROVISIONAL 5134182 MIR4772 microRNA 4772 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 103048749 103048826 + 102432289 102432366 + 16381832;21199797 100616157 ABBA01073899;AC007278;AMYH02004437;NR_039930 APPROVED ncrna HGNC:41741 PROVISIONAL 5134058 MIR4773-1 microRNA 4773-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 152224848 152224925 + 151368334 151368411 + 16381832;21199797 100616392 AC009311;AMYH02004978;NR_039931 APPROVED ncrna HGNC:41699 PROVISIONAL 5134056 MIR4773-2 microRNA 4773-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 152224848 152224925 - 151368334 151368411 - 16381832;21199797 100616418 AC009311;AMYH02004978;NR_039932 APPROVED ncrna HGNC:41790 PROVISIONAL 5134079 MIR4775 microRNA 4775 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 208619531 208619605 + 207754807 207754881 + 16381832;21199797 100616361 ABBA01062689;AC096772;AMYH02005648;NR_039934 APPROVED ncrna ENSG00000264900 HGNC:41885 PROVISIONAL 5134088 MIR4774 microRNA 4774 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 q24.3 169439453 169439528 + 168582943 168583018 + 16381832;21199797;21606961 100616356 ABBA01004957;AC019086;AMYH02005171;NR_039933 APPROVED ncrna HGNC:41873 PROVISIONAL 5134127 MIR4776-1 microRNA 4776-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 213790981 213791060 + 212926257 212926336 + 16381832;21199797 100616267 AC108066;AMYH02005713;NR_039935 APPROVED ncrna ENSG00000266354 HGNC:41641 PROVISIONAL 5134027 MIR4776-2 microRNA 4776-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 213790981 213791060 - 212926257 212926336 - 16381832;21199797 100616472 AC108066;AMYH02005713;NR_039936 APPROVED ncrna HGNC:41631 PROVISIONAL 5134102 MIR4777 microRNA 4777 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 232227419 232227504 + 231362708 231362793 + 16381832;21199797 100616317 ABBA01002059;AC018738;AMYH02005966;NR_039937 APPROVED ncrna HGNC:41773 PROVISIONAL 5134028 MIR4778 microRNA 4778 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 66585381 66585460 - 66358249 66358328 - 16381832;21199797;24322204 100616464 ABBA01075458;AC092669;AMYH02003988;NR_039938 APPROVED ncrna ENSG00000264525 HGNC:41648 PROVISIONAL 5134107 MIR4781 microRNA 4781 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 54519752 54519827 + 54054079 54054154 + 8554872 16381832;21199797 100616315 AL353898;AMYH02001045;NR_039942 APPROVED ncrna ENSG00000264208 HGNC:41769 PROVISIONAL 5134036 MIR4780 microRNA 4780 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 88382038 88382118 - 88082519 88082599 - 16381832;21199797 100616447 ABBA01018804;AC092836;AMYH02004254;NR_039940 APPROVED ncrna ENSG00000265003 HGNC:41552 PROVISIONAL 5134155 MIR4782 microRNA 4782 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 114478867 114478945 - 113721290 113721368 - 16381832;21199797 100616208 ABBA01045988;AC017074;AMYH02004600;NR_039943 APPROVED ncrna HGNC:41635 PROVISIONAL 5134164 MIR4783 microRNA 4783 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 128181113 128181194 - 127423537 127423618 - 16381832;21199797 100616187 ABBA01040207;AC068282;AMYH02004732;NR_039944 APPROVED ncrna ENSG00000264075 HGNC:41874 PROVISIONAL 5134072 MIR4784 microRNA 4784 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 132248733 132248809 - 131491160 131491236 - 16381832;21199797 100616378 ABBA01028233;AC073869;AMYH02004810;NR_039945 APPROVED ncrna HGNC:41580 PROVISIONAL 5134077 MIR4785 microRNA 4785 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 161264321 161264393 - 160407810 160407882 - 16381832;21199797 100616364 AC104598;AMYH02005082;NR_039946 APPROVED ncrna HGNC:41889 PROVISIONAL 5134050 MIR4786 microRNA 4786 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 240882432 240882511 - 239943015 239943094 - 16381832;21199797 100616417 ABBA01048858;AC114750;AMYH02006091;NR_039949 APPROVED ncrna ENSG00000264279 HGNC:41751 PROVISIONAL 5134197 MIR4787 microRNA 4787 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 50712511 50712594 + 50675080 50675163 + 16381832;21199797;21558790 100616138 AC096920;AMYH02006774;NR_039950 APPROVED ncrna ENSG00000272543 HGNC:41653 PROVISIONAL 5134853 MIR4788 microRNA 4788 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 134156669 134156748 + 134437827 134437906 + 16381832;21199797 100616281 ABBA01059155;AC010207;AMYH02007721;NR_039951 APPROVED ncrna ENSG00000263554 HGNC:41676 PROVISIONAL 5134062 MIR4789 microRNA 4789 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 175087329 175087410 + 175369540 175369621 + 16381832;21199797;23319000 100616395 ABBA01058612;AC008180;AMYH02008182;NR_039952 APPROVED ncrna HGNC:41719 PROVISIONAL 5134097 MIR4790 microRNA 4790 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 5291862 5291940 - 5250177 5250255 - 16381832;21199797 100616334 AC026202;AMYH02006191;NR_039953 APPROVED ncrna ENSG00000265180 HGNC:41820 PROVISIONAL 5134031 MIR4792 microRNA 4792 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 24562853 24562926 - 24521362 24521435 - 16381832;21199797;22446413 100616448 ABBA01025027;AC012087;AMYH02006411;NR_039955 miR-4792 APPROVED ncrna ENSG00000265028 HGNC:41577 PROVISIONAL 5134122 MIR4791 microRNA 4791 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 19356340 19356423 - 19314848 19314931 - 16381832;21199797 100616291 ABBA01025103;AC135452;AMYH02006361;NR_039954 APPROVED ncrna ENSG00000271898 HGNC:41704 PROVISIONAL 5134203 MIR4793 microRNA 4793 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 48681627 48681713 - 48644194 48644280 - 8554872 16381832;21199797 100616112 ABBA01024642;AC121252;AMYH02006723;NG_034061;NR_039956 APPROVED ncrna HGNC:41538 PROVISIONAL 5134183 MIR4779 microRNA 4779 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 86420149 86420231 - 86193026 86193108 - 16381832;21199797 100616159 ABBA01075775;AC009309;AMYH02004191;NR_039939 APPROVED ncrna HGNC:41747 PROVISIONAL 5134095 MIR4794 microRNA 4794 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 65045530 65045606 + 64579847 64579923 + 16381832;21199797 100616338 ABBA01074561;AL590405;AMYH02001168;NR_039957 APPROVED ncrna HGNC:41829 PROVISIONAL 5134184 MIR4795 microRNA 4795 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 87275339 87275427 - 87226189 87226277 - 16381832;21199797 100616161 ABBA01004629;AC123511;AMYH02007210;NR_039958 APPROVED ncrna ENSG00000264119 HGNC:41757 PROVISIONAL 5134180 MIR4796 microRNA 4796 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 114462292 114462372 - 114743445 114743525 - 16381832;21199797 100616166 ABBA01061636;AC078986;AMYH02007461;NR_039959 APPROVED ncrna HGNC:41779 PROVISIONAL 5134154 MIR4797 microRNA 4797 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 197020749 197020819 - 197293878 197293948 - 16381832;21199797 100616216 ABBA01033765;AC092937;AMYH02008516;NR_039960 APPROVED ncrna HGNC:41758 PROVISIONAL 5134023 MIR4798 microRNA 4798 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 7312177 7312251 + 7310450 7310524 + 16381832;21199797;21558790;21911355 100616471 ABBA01012744;AC080003;AMYH02008682;NR_039961 APPROVED ncrna HGNC:41616 PROVISIONAL 5134146 MIR4799 microRNA 4799 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 148703746 148703819 + 147782595 147782668 + 16381832;21199797 100616246 ABBA01070061;AC093835;AMYH02010276;NR_039962 APPROVED ncrna HGNC:41584 PROVISIONAL 5134086 MIR4800 microRNA 4800 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 2251804 2251883 - 2250077 2250156 - 16381832;21199797 100616358 ABBA01029517;AL158068;AMYH02008604;NR_039964 APPROVED ncrna ENSG00000265080 HGNC:41877 PROVISIONAL 5134043 MIR4801 microRNA 4801 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 37243532 37243613 - 37241910 37241991 - 16381832;21199797 100616435 ABBA01074301;AC104690;AMYH02009027;NR_039965 APPROVED ncrna ENSG00000264319 HGNC:41840 PROVISIONAL 5134125 MIR4802 microRNA 4802 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 40504057 40504136 - 40502040 40502119 - 16381832;21199797;21558790;21807764 100616274 ABBA01014249;AC098869;AMYH02009077;NR_039966 APPROVED ncrna ENSG00000263642 HGNC:41658 PROVISIONAL 5134074 MIR4803 microRNA 4803 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 71465294 71465367 + 72169467 72169540 + 16381832;21199797 100616377 ABBA01061901;AC093218;AMYH02011552;NR_039967 APPROVED ncrna HGNC:41568 PROVISIONAL 5134187 MIR4804 microRNA 4804 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 72174418 72174490 + 72878591 72878663 + 16381832;21199797 100616152 ABBA01061908;AC008953;AMYH02011557;NR_039968 APPROVED ncrna HGNC:41720 PROVISIONAL 1604867 MIR484 microRNA 484 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.11 15417628 15417706 + 15737151 15737229 + 15643294 15643372 + 6480464 15978578;16381832;17604727;17616659;23697367 619553 ABBA01048900;AC026401;AC243742;NR_030159 MIRN484;hsa-mir-484 APPROVED ncrna HGNC:32341 PROVISIONAL 1603782 MIR485 microRNA 485 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81577817 81577889 + 101521756 101521828 + 101055419 101055491 + 6480464 15965474;15978578;16381832;17604727;21083603;21252292;23593016;23886178 574436 ABBA01048514;AL132709;AMYH02029867;AY882307;AY882335;NR_030160 MIRN485;hsa-mir-485 APPROVED ncrna HGNC:32067 615385 PROVISIONAL 8550089 MIR486-2 microRNA 486-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 41660444 41660507 + 6480464 16381832;23034410 102465696 ABBA01021136;AC113133;AMYH02017883;KF511071;NR_106984 hsa-mir-486-2 ncrna HGNC:50213 PROVISIONAL 1604868 MIR483 microRNA 483 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 p15.5 2191870 2191945 - 2155364 2155439 - 2134134 2134209 - 6480464 15978578;16381832;17604727;20388800;21112326;21676945;21893058;22223106;22465663;22719975;22850566;22908386;23431031;23756429;24067364;24238045;24298054 619552 AC132217;AMYH02024185;NR_030158 1798914;1799502;2091438;2091440;2091442;2091444;2091446;2091448;2091450;2091452;2091454;2216762;2216764 ECD00298;ECD00602;REN116999;REN117000;REN117001;REN117002;REN117003;REN117004;REN117005;REN117006;REN117007;stSG548714;stSG548715 MIRN483;hsa-mir-483 APPROVED ncrna HGNC:32340 PROVISIONAL 1604866 MIR486-1 microRNA 486-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p11.21 40466482 40466549 - 41517959 41518026 - 41660441 41660508 - 6480464 15978578;16381832;17604727;19475450;21415212;21525938;22456796;22995304;23247627;23593217;23980150;24102090 619554 ABBA01021136;AC113133;AMYH02017883;KF511071;NR_030161 MIR486;MIRN486;hsa-mir-486 APPROVED ncrna HGNC:32342 PROVISIONAL 1606044 MIR487B microRNA 487b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81568849 81568932 + 101512792 101512875 + 101046455 101046538 + 6480464 16274478;16381832;17604727;23034410;23426183 664616 ABBA01048514;AL132709;AMYH02029867;NR_030267 MIRN487B APPROVED ncrna HGNC:32533 615037 PROVISIONAL 1604865 MIR487A microRNA 487a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81574844 81574923 + 101518783 101518862 + 101052446 101052525 + 15978578;16274478;16381832;17604727;23034410;23879965 619555 ABBA01048514;AL132709;AMYH02029867;NR_030162 MIRN487;MIRN487A;hsa-mir-487 APPROVED ncrna HGNC:32343 PROVISIONAL 1603778 MIR491 microRNA 491 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 p21.3 20654616 20654699 + 20716104 20716187 + 20716105 20716188 + 6480464 15965474;16381832;17604727;17616659;20039318;21802413;23257658;23519249;23725476;24335959;24680928 574444 ABBA01065184;AL445624;AMYH02019275;NR_030166 MIRN491;hsa-mir-491 APPROVED ncrna HGNC:32076 PROVISIONAL 1603770 MIR494 microRNA 494 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81552015 81552095 + 101495971 101496051 + 101029634 101029714 + 6480464 15965474;16274478;16381832;17604727;20807887;21809359;21859890;22028919;22042971;22151897;22785131;22902743;23012423;23034410;23160513;23436935;23728345;23789915;23913442;24269020;24316134;24349514;24364919;24452363;24644030;24859161 574452 ABBA01048514;AL132709;AMYH02029867;NR_030174 MIRN494;hsa-mir-494 APPROVED ncrna HGNC:32084 616036 PROVISIONAL 1603773 MIR492 microRNA 492 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q22 94899397 94899512 + 95228174 95228289 + 94834398 94834513 + 6480464 15965474;16381832;19138993;19851984;20732906;21319197;21655935;23802567 574449 ABBA01053356;AC117494;AMYH02026960;NR_030171 MIRN492;hsa-mir-492 APPROVED ncrna ENSG00000208038 HGNC:32081 614384 PROVISIONAL 1603781 MIR488 microRNA 488 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q25.2 150108504 150108586 - 176998499 176998581 - 177029363 177029445 - 6480464;8554872 15965474;16381832;17604727;21168126;21710544;23688035 574441 ABBA01027859;AL022145;AMYH02002201;NR_030163 MIRN488;hsa-mir-488 APPROVED ncrna HGNC:32073 PROVISIONAL 1603779 MIR490 microRNA 490 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q33 131327122 131327249 + 136587914 136588041 + 136903167 136903294 + 6480464 15965474;16381832;17604727;18230126;22446413;22869791;23212913;23821525;24220339;24440705 574443 ABBA01001139;AC009264;AMYH02016836;AY882316;CH236950;NG_011846;NR_030165 MIRN490;hsa-mir-490;miR-490 APPROVED ncrna ENSG00000207597 HGNC:32075 PROVISIONAL 1603769 MIR495 microRNA 495 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81556148 81556229 + 101500092 101500173 + 101033755 101033836 + 6480464 15965474;16381832;17604727;21258409;22282338;22469786;23132946;23594394;24293376;24303078 574453 ABBA01048514;AL132709;AMYH02029867;NR_030175 MIRN495;hsa-mir-495 APPROVED ncrna HGNC:32085 615149 PROVISIONAL 1603768 MIR496 microRNA 496 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81582971 81583072 + 101526910 101527011 + 101060573 101060674 + 6480464 15965474;16381832;17604727;24204564 574454 ABBA01048514;AL132709;AMYH02029867;NR_030176 MIRN496;hsa-mir-496 APPROVED ncrna ENSG00000207961 HGNC:32086 PROVISIONAL 1603766 MIR497 microRNA 497 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p13.1 6946735 6946846 - 6921230 6921341 - 7017911 7018022 - 6480464 15965474;16381832;17604727;18677302;21258880;21350001;21878650;22710713;23453369;23531080;23544130;23673296;24375248;24464213;24845562;24858688;24909281 574456 ABBA01054845;AC040977;AMYH02032882;AY785913;NR_030178 MIRN497;hsa-mir-497 APPROVED ncrna ENSG00000273895 HGNC:32088 615672 PROVISIONAL 4892506 MIR497HG mir-497-195 cluster host gene (non-protein coding) ASSOCIATED WITH Melanoma (inferred) 17 17 17 p13.1 6944642 6948478 - 6919137 6922973 - 7015818 7019654 - 8554872 100506755 I3L3H1 ABBA01054845;AC040977;AMYH02032882;HG508625;NR_038310 Hs.710442 MIR195HG ncrna ENSG00000267532 HGNC:39523 VALIDATED 1603772 MIR493 microRNA 493 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81389474 81389562 + 101335397 101335485 + 100869060 100869148 + 6480464 15965474;16274478;16381832;17604727;20960104;22057916;22373578;24533778 574450 ABBA01048518;AL117190;AMYH02029862;NR_030172 MIRN493;hsa-mir-493 APPROVED ncrna ENSG00000207989 HGNC:32082 PROVISIONAL 1603780 MIR489 microRNA 489 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q21.3 87817753 87817836 - 93113248 93113331 - 93483936 93484019 - 6480464 15965474;16381832;17604727;20700123;23034410;24786471 574442 ABBA01045790;AC003078;AMYH02016279;AY882328;CH236949;NR_030164 MIRN489;hsa-mir-489 APPROVED ncrna HGNC:32074 614523 PROVISIONAL 5134191 MIR499B microRNA 499b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 33578203 33578275 - 34990400 34990472 - 8554872 16381832;21199797 100616134 ABBA01019173;AL132825;AMYH02036987;NR_039912 MIR499A;hsa-mir-499b APPROVED ncrna HGNC:41640 PROVISIONAL 1603440 MIR499A microRNA 499a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q11.22 30327269 30327390 + 33578179 33578300 + 34990376 34990497 + 8554872 15965474;16381832;17604727;19514064;19847796;19881472;20081117;20154144;20488170;20549817;20733065;20842445;20845080;20848167;20921333;21073609;21345130;21403094;21573063;21902575;22019503;22110643;22159951;22161766;22222140;22311030;22330002;22344502;22374132;22393998;22583825;22641068;22692992;22752967;22903035;22922391;22970328;23026916;23053947;23138379;23202363;23236400;23271127;23522091;23679271;23725137;23731641;23871635;24085457;24107911;24136745;24241692;24258110;24301908;24312386;24521023 574501 ABBA01019173;AL132825;AMYH02036987;NR_030223 MIR499;MIRN499;hsa-mir-499;hsa-mir-499a APPROVED ncrna HGNC:32133 613614 PROVISIONAL 6483892 MIR5002 microRNA 5002 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 123851776 123851872 + 124132929 124133025 + 16381832;21558790 100847021 ABBA01016443;AC117401;AMYH02007558;NR_049798 ncrna HGNC:43470 PROVISIONAL 6483906 MIR4999 microRNA 4999 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 8454174 8454264 - 8389290 8389380 - 16381832;21558790 100847049 ABBA01010849;AC136469;AMYH02035442;NR_049795 ncrna ENSG00000265390 HGNC:43494 PROVISIONAL 6483891 MIR5004 microRNA 5004 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 33406108 33406214 + 33438331 33438437 + 16381832;21558790 100847012 ABBA01038151;AL662799;AMYH02013488;BX088650;NR_049800 ncrna HGNC:43532 PROVISIONAL 1603762 MIR498 microRNA 498 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51218542 51218665 + 54177451 54177574 + 53674197 53674320 + 6480464 15965474;16381832;17604727;23055531;23418466 574460 ABBA01068202;AC011453;AMYH02036431;AY882319;NR_030182 MIRN498;hsa-mir-498 APPROVED ncrna ENSG00000207869 HGNC:32092 PROVISIONAL 6483865 MIR5000 microRNA 5000 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 75317939 75318041 + 75090812 75090914 + 16381832;21558790;21606961 100846995 ABBA01075617;AC007400;AMYH02004094;NR_049796 ncrna ENSG00000263909 HGNC:43464 PROVISIONAL 6483882 MIR5007 microRNA 5007 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 55748589 55748683 + 55174454 55174548 + 16381832;21558790;24001895 100846996 ABBA01037040;AL357337;AMYH02028079;NR_049804 ncrna ENSG00000264387 HGNC:43468 PROVISIONAL 6483895 MIR5003 microRNA 5003 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 172089168 172089266 + 172662165 172662263 + 16381832;21558790 100847029 ABBA01044041;AC027309;AMYH02012757;NR_049799 ncrna HGNC:43512 PROVISIONAL 6483868 MIR5006 microRNA 5006 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 42142422 42142531 - 41568286 41568395 - 16381832;21558790;21606961 100847026 ABBA01021264;AL354833;AMYH02027922;NR_049803 ncrna HGNC:43495 PROVISIONAL 6483872 MIR5001 microRNA 5001 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 233415184 233415283 - 232550474 232550573 - 16381832;21558790;21911355 100847037 ABBA01002018;AC092165;AMYH02005988;NR_049797 ncrna ENSG00000266620 HGNC:43462 PROVISIONAL 6483883 MIR5009 microRNA 5009 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 90427163 90427262 - 89883931 89884030 - 16381832;21558790 100846993 ABBA01053029;AC027176;AMYH02031029;NR_049807 ncrna HGNC:43458 PROVISIONAL 4109001 MIR500B microRNA 500b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53844507 53844585 + 49775280 49775358 + 50010672 50010750 + 16381832;19784364;23034410 100422911 ABBA01063309;AC231645;AF222686;AMYH02039357;NG_007159;NR_036257 APPROVED ncrna HGNC:38223 PROVISIONAL 1603438 MIR501 microRNA 501 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53843557 53843640 + 49774330 49774413 + 50009722 50009805 + 6480464 15965474;16381832;17604727;23266610 574503 AC231645;AF222686;AMYH02039357;AY882271;NG_007159;NR_030225 MIRN501;hsa-mir-501 APPROVED ncrna HGNC:32135 PROVISIONAL 6483887 MIR5011 microRNA 5011 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 64748821 64748923 + 67081584 67081686 + 16381832;21558790 100847002 ABBA01056259;AC113195;AMYH02034909;NR_049809 ncrna ENSG00000263354 HGNC:43496 PROVISIONAL 6483904 MIR5010 microRNA 5010 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 40666206 40666325 + 42514188 42514307 + 16381832;21558790;21807764 100847046 ABBA01006422;AC067852;AMYH02033430;NR_049808 ncrna HGNC:43484 PROVISIONAL 1603437 MIR502 microRNA 502 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53848433 53848518 + 49779206 49779291 + 50014598 50014683 + 6480464 15965474;16381832;17604727;19789321;22095217;22580605;22867998;24146953;24374662 574504 ABBA01063309;AC231645;AF222686;AMYH02039357;AY882317;NG_007159;NR_030226 MIRN502;hsa-mir-502 APPROVED ncrna HGNC:32136 300893 PROVISIONAL 1603435 MIR503 microRNA 503 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134067176 134067246 - 133680358 133680428 - 134546328 134546398 - 6480464 15965474;16274478;16381832;17604727;19538740;20462953;21220732;21495032;22072795;22282338;22429276;22890417;23263626;23352645;23724129;23731275;23821519;23856992;23967867;24378652;24405610;24486548 574506 ABBA01042455;AC004383;AMYH02040528;AY882283;NR_030228 1654449 RH18517 MIRN503;hsa-mir-503 APPROVED ncrna ENSG00000208005 HGNC:32138 300865 PROVISIONAL 1603001 MIR503HG MIR503 host gene (non-protein coding) INTERACTS WITH methapyrilene (ortholog); paracetamol (ortholog); quartz (ortholog) X X X q26.3 134064225 134067478 - 133677367 133680660 - 134543377 134546630 - 6480464 12477932;15146197;24463510 84848 ABBA01042454;ABBA01042455;AC004383;AMYH02040528;AW378319;BC007360;BX090522;CH471107;CN297454;HG512691;NR_024607 EAX11759 Hs.416379 1654449;1680006;1691334;5094466 G54814;RH18517;RH92564;RH99019 AC004383.4;H19X APPROVED ncrna ENSG00000223749 HGNC:28258 06638 VALIDATED 1603433 MIR505 microRNA 505 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.1 139373765 139373848 - 139006307 139006390 - 139924148 139924231 - 6480464 15965474;16381832;17604727;17616659;22051041 574508 ABBA01066083;AL590077;AMYH02040617;AY785933;NR_030230 MIRN505;hsa-mir-505 APPROVED ncrna HGNC:32140 PROVISIONAL 5133844 MIR5047 microRNA 5047 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 62497332 62497431 - 64501214 64501313 - 16381832;21346006 100616408 ABBA01035296;AC009994;AC234063;AMYH02033792;NR_039969 APPROVED ncrna HGNC:41834 PROVISIONAL 1603430 MIR506 microRNA 506 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146667176 146667299 - 146312238 146312361 - 147230720 147230843 - 6480464 15965474;16381832;21726609;22383162;23410973;23717581;24604117 574511 ABBA01054233;AL589669;AMYH02040736;AY882284;NR_030233 MIRN506;hsa-mir-506 APPROVED ncrna ENSG00000207731 HGNC:32143 300877 PROVISIONAL 1603429 MIR507 microRNA 507 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146667440 146667533 - 146312502 146312595 - 147230984 147231077 - 6480464 15965474;16381832;17604727 574512 ABBA01054233;AL589669;AMYH02040736;AY882330;NR_030234 MIRN507;hsa-mir-507 APPROVED ncrna ENSG00000207969 HGNC:32144 PROVISIONAL 1603439 MIR500A microRNA 500a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53842266 53842349 + 49773039 49773122 + 50008431 50008514 + 6480464 15965474;16381832;17604727;19863192 574502 ABBA01063308;AC231645;AF222686;AMYH02039357;AY882306;NG_007159;NR_030224 MIR500;MIRN500;hsa-mir-500;hsa-mir-500a APPROVED ncrna HGNC:32134 PROVISIONAL 1603428 MIR508 microRNA 508 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146673369 146673483 - 146318431 146318545 - 147236913 147237027 - 6480464 15965474;16381832;17604727;22369946;23893241 574513 ABBA01054233;AL589669;AMYH02040736;AY882309;NR_030235 MIRN508;hsa-mir-508 APPROVED ncrna ENSG00000207589 HGNC:32145 300874 PROVISIONAL 6483874 MIR5087 microRNA 5087 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 147806603 147806678 - 148334479 148334554 - 16381832;21785231 100847044 ABBA01053732;AC245100;AL592207;NR_049810 ncrna HGNC:43480 PROVISIONAL 1603434 MIR504 microRNA 504 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 138115863 138115945 - 137749872 137749954 - 138667711 138667793 - 6480464 15965474;16381832;17604727;20542001;21927029;22844109;23034410;24745611 574507 ABBA01065962;AMYH02040603;AY882272;KF459434;NR_030229;Z82193 MIRN504;hsa-mir-504 APPROVED ncrna HGNC:32139 PROVISIONAL 1603427 MIR509-1 microRNA 509-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146696988 146697081 - 146342050 146342143 - 147260532 147260625 - 6480464 15965474;16381832;17573847;17604727 574514 ABBA01054226;AL589669;AMYH02040736;AY882285;NR_030236 1749287 SHGC-110962 MIRN509;MIRN509-1;hsa-mir-509 microrna 509 APPROVED ncrna ENSG00000208000 HGNC:32146 300875 PROVISIONAL 6483876 MIR5091 microRNA 5091 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 13629489 13629581 + 13627865 13627957 + 16381832;21785231 100847023 ABBA01032545;AC006445;AMYH02008785;NR_049814 ncrna ENSG00000266240 HGNC:43478 PROVISIONAL 2290252 MIR509-2 microRNA 509-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146695216 146695306 - 146340278 146340368 - 147258760 147258850 - 15965474;16381832;17573847;17604727 100126301 ABBA01054227;AL589669;AMYH02040736;NR_030586 MIRN509-2 APPROVED ncrna ENSG00000212013 HGNC:33641 PROVISIONAL 6483879 MIR5090 microRNA 5090 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 102106189 102106273 + 102465742 102465826 + 16381832;21785231 100847073 ABBA01011281;AC093668;AC244503;NR_049813 ncrna HGNC:43547 PROVISIONAL 6483878 MIR5088 microRNA 5088 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 50185328 50185411 + 49682117 49682195 + 16381832;21785231;22955976 100847074 ABBA01032913;AC011495;AMYH02036325;NR_049811 ncrna HGNC:43489 PROVISIONAL 6483877 MIR5089 microRNA 5089 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 45050383 45050466 + 46973017 46973100 + 16381832;21785231;21807764 100847067 AC005670;AMYH02033514;NR_049812 ncrna ENSG00000264999 HGNC:43536 PROVISIONAL 6483922 MIR5008 microRNA 5008 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 228129291 228129384 - 227941590 227941683 - 16381832;21558790 100847072 ABBA01005823;AL360269;AMYH02002835;NR_049806 ncrna HGNC:43546 PROVISIONAL 6483873 MIR5092 microRNA 5092 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 124870309 124870396 - 125151465 125151552 - 16381832;21785231 100847039 ABBA01016427;AC055752;AMYH02007571;NR_049815 ncrna HGNC:43467 PROVISIONAL 6483871 MIR5093 microRNA 5093 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 85339832 85339931 - 85306226 85306325 - 16381832;21785231 100847022 ABBA01016881;AC092275;AMYH02032581;NR_049816 ncrna ENSG00000266307 HGNC:43474 PROVISIONAL 6483875 MIR5094 microRNA 5094 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 90393869 90393953 - 89850637 89850721 - 16381832;21785231 100847059 ABBA01053028;AC018988;AMYH02031029;NR_049817 ncrna HGNC:43519 PROVISIONAL 5133847 MIR5096 microRNA 5096 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 79741906 79741975 + 78820752 78820821 + 16381832;21377523 100616427 ABBA01063388;AC098818;AMYH02009545;NR_039973 APPROVED ncrna HGNC:41611 PROVISIONAL 6483867 MIR5100 microRNA 5100 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 43493011 43493129 + 42997563 42997681 + 16381832;21895886 100847014 ABBA01049994;AL365199;AMYH02022703;NR_049836 ncrna ENSG00000263795 HGNC:43540 PROVISIONAL 1603426 MIR510 microRNA 510 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146708791 146708864 - 146353853 146353926 - 147272335 147272408 - 15965474;16381832;17604727;18614545;19954774;23034410 574515 ABBA01054225;AL589669;AMYH02040736;AY882334;NR_030237 MIRN510;hsa-mir-510 APPROVED ncrna ENSG00000207641 HGNC:32147 300866 PROVISIONAL 5133845 MIR5095 microRNA 5095 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 53400602 53400689 + 52934930 52935017 + 16381832;21377523 100616458 AC099677;AMYH02001032;NR_039970 APPROVED ncrna HGNC:41849 PROVISIONAL 2290219 MIR509-3 microRNA 509-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 146696108 146696182 - 146341170 146341244 - 147259652 147259726 - 6480464 15965474;16381832;17573847;17604727;22369946;24882622 100126337 ABBA01054227;AL589669;AMYH02040736;NR_030629 1749287 SHGC-110962 MIRN509-3 APPROVED ncrna ENSG00000212014 HGNC:33675 300876 PROVISIONAL 1603777 MIR511 microRNA 511 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 p12.33 17820543 17820629 + 17887107 17887193 + 17845107 17845193 + 8554872 15965474;16381832;22832163;23034410;23071539;24402374 574445 ABBA01034549;AC069023;AL928580;AMYH02022348;NR_030167 MIR511-1;MIR511-2;MIRN511-1;MIRN511-2;hsa-mir-511;hsa-mir-511-2 APPROVED ncrna HGNC:32077 VALIDATED 1603763 MIR512-2 microRNA 512-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51213502 51213599 + 54172411 54172508 + 53669157 53669254 + 15965474;16381832;17604727;19503096;20372864 574459 ABBA01068203;AC011453;AMYH02036431;NR_030181 2187863 G64897 MIRN512-2 APPROVED ncrna ENSG00000207644 HGNC:32091 PROVISIONAL 1603432 MIR513A1 microRNA 513a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146649914 146650042 - 146294981 146295109 - 147213463 147213591 - 15965474;16381832;17604727 574509 ABBA01054233;AL589669;AMYH02040735;AY882311;NR_030231 MIRN513-1;MIRN513A1 microrna 513-1 APPROVED ncrna ENSG00000207873 HGNC:32141 PROVISIONAL 1603431 MIR513A2 microRNA 513a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146662278 146662404 - 146307344 146307470 - 147225826 147225952 - 15965474;16381832;17604727 574510 ABBA01054233;AL589669;AMYH02040736;NR_030232 MIRN513-2;MIRN513A-2;MIRN513A2;hsa-mir-513a-2 microrna 513-2 APPROVED ncrna ENSG00000207984 HGNC:32142 PROVISIONAL 1603764 MIR512-1 microRNA 512-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51211024 51211107 + 54169933 54170016 + 53666679 53666762 + 15965474;16381832;17604727;19503096;20209130;20372864 574458 ABBA01068203;AC011453;AMYH02036431;AY882301;AY882302;NR_030180 2187863 G64897 MIRN512-1 APPROVED ncrna ENSG00000207645 HGNC:32090 PROVISIONAL 3497335 MIR513B microRNA 513b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146635496 146635579 - 146280562 146280645 - 147199044 147199127 - 16381832;17416744 100313822 ABBA01054235;AL589669;AMYH02040735;NR_031708 MIRN513B APPROVED ncrna ENSG00000207871 HGNC:33935 PROVISIONAL 1603425 MIR514A1 microRNA 514a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146715702 146715799 - 146360765 146360862 - 147279247 147279344 - 15965474;16381832;17604727 574516 AL591022;AMYH02040736;AY882310;NR_030238 MIR514-1;MIRN514-1;hsa-mir-514a-1 APPROVED ncrna ENSG00000207868 HGNC:32148 PROVISIONAL 1603424 MIR514A2 microRNA 514a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146718398 146718485 - 146363461 146363548 - 147281943 147282030 - 15965474;16381832;17604727 574517 AL591022;AMYH02040736;NR_030239 MIR514-2;MIRN514-2;hsa-mir-514a-2 APPROVED ncrna ENSG00000207866 HGNC:32149 PROVISIONAL 1603423 MIR514A3 microRNA 514a-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X q27.3 146366159 146366246 - 147284641 147284728 - 15965474;16381832;17604727 574518 AL591022;AMYH02040736;NR_030240 MIR514-3;MIRN514-3;hsa-mir-514a-3 APPROVED ncrna ENSG00000207867 HGNC:32150 PROVISIONAL 4109060 MIR514B microRNA 514b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146686607 146686686 - 146331669 146331748 - 147250151 147250230 - 16381832;20224791;20300190;20459774;21199797 100422847 ABBA01054228;AL589669;AMYH02040736;NR_036173 APPROVED ncrna ENSG00000252583 HGNC:38292 PROVISIONAL 1603776 MIR511-2 microRNA 511-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 p12.33 18134036 18134122 + 15965474;16381832 574446 ABBA01034549;AC069023;AMYH01002138;NR_030168 MIRN511-2 APPROVED miscrna HGNC:32078 VALIDATED 1603725 MIR516A1 microRNA 516a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51301097 51301186 + 54259995 54260084 + 53756741 53756830 + 15965474;16381832;17604727 574498 ABBA01068200;AC011453;AMYH02036431;NR_030220 MIRN516-1;MIRN516A-1;MIRN516A1 APPROVED ncrna ENSG00000207767 HGNC:32130 PROVISIONAL 1603733 MIR516B1 microRNA 516b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51281196 51281285 + 54240099 54240188 + 53736845 53736934 + 15965474;16381832;17604727 574490 ABBA01068200;AC011453;AMYH02036431;NR_030212 MIRN516-4;MIRN516B-1;MIRN516B1 APPROVED ncrna ENSG00000207946 HGNC:32122 PROVISIONAL 1603724 MIR516A2 microRNA 516a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51305490 51305579 + 54264387 54264476 + 53761133 53761222 + 15965474;16381832;17604727 574499 ABBA01068200;AC011453;AMYH02036431;NR_030221 MIRN516-2;MIRN516A-2;MIRN516A2 APPROVED ncrna ENSG00000207620 HGNC:32131 PROVISIONAL 1603738 MIR516B2 microRNA 516b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51269792 51269876 + 54228696 54228780 + 53725442 53725526 + 15965474;16381832;17604727 574485 ABBA01068201;AC011453;AMYH02036431;AY785941;NR_030207 MIRN516-3;MIRN516B-2;MIRN516B2 APPROVED ncrna ENSG00000207925 HGNC:32117 PROVISIONAL 1603757 MIR515-2 microRNA 515-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51229353 51229435 + 54188263 54188345 + 53685009 53685091 + 15965474;16381832;17604727 574465 ABBA01068202;AC011453;AMYH02036431;NR_030187 1661880;2187837 G64901;RH45938 MIRN515-2 APPROVED ncrna ENSG00000207615 HGNC:32097 PROVISIONAL 1603760 MIR515-1 microRNA 515-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51223346 51223428 + 54182257 54182339 + 53679003 53679085 + 15965474;16381832;17604727;23928990 574462 ABBA01068202;AC011453;AMYH02036431;AY785919;AY785947;NR_030184 1661880;2187837 G64901;RH45938 MIRN515-1 APPROVED ncrna ENSG00000207616 HGNC:32094 PROVISIONAL 1603740 MIR517B microRNA 517b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51265427 51265493 + 54224330 54224396 + 53721076 53721142 + 6480464 15965474;16381832;22672989 574483 ABBA01068201;AC011453;AMYH02036431;AY882289;NR_030205 MIRN517B APPROVED ncrna ENSG00000207837 HGNC:32115 PROVISIONAL 1603744 MIR517A microRNA 517a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51256616 51256702 + 54215522 54215608 + 53712268 53712354 + 6480464 15965474;16381832;17604727;20209130;21479368;22672989;23142219;24846831 574479 ABBA01068201;AC011453;AMYH02036431;AY882296;NR_030201 MIRN517A APPROVED ncrna ENSG00000207734 HGNC:32111 PROVISIONAL 6483899 MIR5186 microRNA 5186 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 151283664 151283783 - 151565876 151565995 - 16381832;21606961 100847036 ABBA01058907;AC117454;AMYH02007902;NR_049818 ncrna ENSG00000264330 HGNC:43459 PROVISIONAL 1603731 MIR517C microRNA 517c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51285664 51285758 + 54244567 54244661 + 53741313 53741407 + 6480464 15965474;16381832;17604727;19962671;23142219 574492 ABBA01068200;AC011453;AMYH02036431;AY785929;NR_030214 MIRN517C APPROVED ncrna ENSG00000207838 HGNC:32124 PROVISIONAL 6483932 MIR5187 microRNA 5187 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 161196976 161197051 + 161227186 161227261 + 16381832;21606961;21807764 100847090 ABBA01016596;AC243898;AL590714;NR_049819 ncrna HGNC:43523 PROVISIONAL 6483885 MIR5188 microRNA 5188 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 125400093 125400205 + 124915547 124915659 + 16381832;21606961 100847004 ABBA01060362;AC126309;AMYH02027479;NR_049820 ncrna ENSG00000265345 HGNC:43502 PROVISIONAL 6483911 MIR5189 microRNA 5189 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 88535326 88535439 + 88468918 88469031 + 16381832;21606961;23226537 100847057 ABBA01015836;AC135049;AMYH02032633;NR_049821 ncrna HGNC:43515 PROVISIONAL 1603735 MIR518A1 microRNA 518a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51275357 51275441 + 54234260 54234344 + 53731006 53731090 + 15965474;16381832;17604727 574488 ABBA01068201;AC011453;AMYH02036431;AY785914;AY882297;NR_030210 MIRN518A-1;MIRN518A1 APPROVED ncrna ENSG00000207803 HGNC:32120 PROVISIONAL 1603732 MIR518A2 microRNA 518a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51283684 51283770 + 54242587 54242673 + 53739333 53739419 + 15965474;16381832;17604727 574491 ABBA01068200;AC011453;AMYH02036431;NR_030213 2187837 G64901 MIRN518A-2;MIRN518A2 APPROVED ncrna ENSG00000207699 HGNC:32123 PROVISIONAL 2974685 MIR513C microRNA 513c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 146626156 146626239 - 146271222 146271305 - 147189704 147189787 - 16381832;17416744 100302114 ABBA01054235;AL589669;AMYH02040735;NR_031709 MIRN513C;hsa-mir-513c APPROVED ncrna ENSG00000216171 HGNC:33934 PROVISIONAL 1603749 MIR518B microRNA 518b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51247080 51247162 + 54205991 54206073 + 53702737 53702819 + 6480464 15965474;16381832;17604727;21269950;22672989;22958893;24173143 574474 ABBA01068202;AC011453;AMYH02036431;AY785930;NR_030196 MIRN518B APPROVED ncrna ENSG00000207862 HGNC:32106 PROVISIONAL 1603734 MIR518D microRNA 518d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51279228 51279314 + 54238131 54238217 + 53734877 53734963 + 6480464 15965474;16381832;17604727 574489 ABBA01068200;AC011453;AMYH02036431;AY785916;NR_030211 MIRN518D APPROVED ncrna ENSG00000207747 HGNC:32121 PROVISIONAL 1603746 MIR518C microRNA 518c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51253083 51253183 + 54211989 54212089 + 53708735 53708835 + 6480464 15965474;16381832;17604727 574477 ABBA01068202;AC011453;AMYH02036431;AY785931;NR_030199 MIRN518C APPROVED ncrna ENSG00000207553 HGNC:32109 PROVISIONAL 1603751 MIR518F microRNA 518f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51244358 51244444 + 54203269 54203355 + 53700015 53700101 + 6480464 15965474;16381832;17604727 574472 ABBA01068202;AC011453;AMYH02036431;AY785915;AY882327;NR_030194 MIRN518F APPROVED ncrna ENSG00000207706 HGNC:32104 PROVISIONAL 6483923 MIR5190 microRNA 5190 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 13459946 13460025 + 13459947 13460026 + 16381832;21606961 100847080 ABBA01074041;AMYH02034348;AP002439;NR_049822 ncrna HGNC:43549 PROVISIONAL 6483914 MIR5191 microRNA 5191 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 201688636 201688755 + 201719508 201719627 + 16381832;21606961 100847050 AL645504;AMYH02002481;NR_049823 ncrna HGNC:43497 PROVISIONAL 6483933 MIR5192 microRNA 5192 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 62432961 62433052 + 62205826 62205917 + 16381832;21606961 100847087 ABBA01075382;AC018462;AMYH02003940;NR_049824 ncrna ENSG00000266097 HGNC:43473 PROVISIONAL 6483930 MIR5193 microRNA 5193 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 49843570 49843678 - 49806137 49806245 - 16381832;21606961 100847079 ABBA01024574;AC139451;AMYH02006759;NR_049825 ncrna HGNC:43534 PROVISIONAL 6483920 MIR5196 microRNA 5196 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 35836416 35836530 + 35345513 35345627 + 16381832;21606961 100847070 ABBA01018740;AMYH02035983;NR_049828;U62631 ncrna HGNC:43542 PROVISIONAL 6483912 MIR5194 microRNA 5194 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 131020580 131020699 - 130008334 130008453 - 16381832;21606961 100847051 ABBA01037973;AC131568;AMYH02018782;NR_049826 ncrna ENSG00000264653 HGNC:43498 PROVISIONAL 6483880 MIR5197 microRNA 5197 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 143059425 143059536 + 143679860 143679971 + 16381832;21606961 100846991 ABBA01026362;AC008696;AMYH02012378;NR_049829 ncrna ENSG00000266478 HGNC:43450 PROVISIONAL 1603441 MIR519A2 microRNA 519a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51306701 51306787 + 54265598 54265684 + 53762344 53762430 + 15965474;16381832;17604727;19088191;21083603 574500 ABBA01068200;AC011453;AMYH02036431;NR_030222 MIRN519A-2;MIRN519A2 APPROVED ncrna ENSG00000276549 HGNC:32132 PROVISIONAL 1603727 MIR519A1 microRNA 519a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51296755 51296839 + 54255651 54255735 + 53752397 53752481 + 15965474;16381832;17604727;19088191;20209130;21083603;24300127;24752803 574496 ABBA01068200;AC011453;AMYH02036431;NR_030218 MIRN519A-1;MIRN519A1 APPROVED ncrna ENSG00000207992 HGNC:32128 PROVISIONAL 1603753 MIR519B microRNA 519b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51239556 51239636 + 54198467 54198547 + 53695213 53695293 + 6480464 15965474;16381832;17604727;19088191;22981979 574469 ABBA01068202;AC011453;AMYH02036431;AY882331;NR_030191 MIRN519B APPROVED ncrna ENSG00000207825 HGNC:32101 PROVISIONAL 1603743 MIR519D microRNA 519d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51257695 51257782 + 54216601 54216688 + 53713347 53713434 + 6480464 15965474;16381832;17604727;21524841;22262409;23034410 574480 ABBA01068201;AC011453;AMYH02036431;AY785939;NR_030202 1728265 G63561 MIRN519D APPROVED ncrna ENSG00000207981 HGNC:32112 614247 PROVISIONAL 1603756 MIR519C microRNA 519c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51230813 51230899 + 54189723 54189809 + 53686469 53686555 + 6480464 15965474;16381832;17604727;18573883;19088191;19825807;20233879;21219875;22887864 574466 ABBA01068202;AC011453;AMYH02036431;AY882286;AY882326;NR_030188 MIRN519C APPROVED ncrna ENSG00000207788 HGNC:32098 PROVISIONAL 1603759 MIR519E microRNA 519e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51224283 51224366 + 54183194 54183277 + 53679940 53680023 + 6480464 15965474;16381832;17604727 574463 ABBA01068202;AC011453;AMYH02036431;AY785925;AY785938;NR_030185 MIRN519E APPROVED ncrna ENSG00000207810 HGNC:32095 PROVISIONAL 1603750 MIR520B microRNA 520b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 51245570 51245630 + 54204481 54204541 + 53701227 53701287 + 6480464 15965474;16381832;21343296;22319632 574473 ABBA01068202;AC011453;AMYH02036431;AY785927;AY882300;NR_030195 MIRN520B APPROVED ncrna ENSG00000207722 HGNC:32105 PROVISIONAL 1603755 MIR520A microRNA 520a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51235223 51235307 + 54194135 54194219 + 53690881 53690965 + 15965474;16381832;17604727 574467 ABBA01068202;AC011453;AMYH02036431;AY785926;AY882292;NR_030189 1340309;1759717 D19S924;SHGC-150939 MIRN520A APPROVED ncrna ENSG00000207594 HGNC:32099 PROVISIONAL 1603747 MIR520C microRNA 520c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51251799 51251885 + 54210707 54210793 + 53707453 53707539 + 6480464 15965474;16381832;17604727;22158050;24497838 574476 ABBA01068202;AC011453;AMYH02036431;NR_030198 MIRN520C APPROVED ncrna ENSG00000207738 HGNC:32108 615908 PROVISIONAL 1603741 MIR520D microRNA 520d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 51264445 51264531 + 54223350 54223436 + 53720096 53720182 + 6480464 15965474;16381832;17604727;22128589;24458129 574482 ABBA01068201;AC011453;AMYH02036431;AY785937;NR_030204 MIRN520D APPROVED ncrna ENSG00000207735 HGNC:32114 PROVISIONAL 1603736 MIR518E microRNA 518e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51274189 51274276 + 54233092 54233179 + 53729838 53729925 + 6480464 15965474;16381832;17604727 574487 ABBA01068201;AC011453;AMYH02036431;AY785923;NR_030209 MIRN518E APPROVED ncrna ENSG00000207987 HGNC:32119 PROVISIONAL 1603761 MIR520E microRNA 520e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51220054 51220140 + 54178965 54179051 + 53675711 53675797 + 15965474;16381832;22105365 574461 ABBA01068202;AC011453;AMYH02036431;AY882267;NR_030183 MIRN520E APPROVED ncrna ENSG00000207599 HGNC:32093 PROVISIONAL 1603758 MIR520F microRNA 520f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51226503 51226589 + 54185413 54185499 + 53682159 53682245 + 15965474;16381832;23034410 574464 ABBA01068202;AC011453;AMYH02036431;AY785940;NR_030186 MIRN520F APPROVED ncrna ENSG00000207555 HGNC:32096 PROVISIONAL 1603739 MIR520G microRNA 520g microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51266517 51266606 + 54225420 54225509 + 53722166 53722255 + 6480464 15965474;16381832;17604727;19962671;23034410 574484 ABBA01068201;AC011453;AMYH02036431;AY785945;NR_030206 MIRN520G APPROVED ncrna ENSG00000207799 HGNC:32116 PROVISIONAL 1603730 MIR520H microRNA 520h microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51286863 51286950 + 54245766 54245853 + 53742512 53742599 + 6480464 15965474;16381832;22887864;23364396;24316511 574493 ABBA01068200;AC011453;AMYH02036431;AY785928;NR_030215 MIRN520H APPROVED ncrna ENSG00000207861 HGNC:32125 614755 PROVISIONAL 1603742 MIR521-2 microRNA 521-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51260943 51261029 + 54219848 54219934 + 53716594 53716680 + 15965474;16381832;17604727 574481 ABBA01068201;AC011453;AMYH02036431;AY882329;NR_030203 MIRN521-2 APPROVED ncrna ENSG00000207549 HGNC:32113 PROVISIONAL 1603728 MIR522 microRNA 522 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51295569 51295655 + 54254465 54254551 + 53751211 53751297 + 6480464 15965474;16381832;17604727;17616659;21533135 574495 ABBA01068200;AC011453;AMYH02036431;AY785936;NR_030217 MIRN522;hsa-mir-522 APPROVED ncrna ENSG00000207806 HGNC:32127 PROVISIONAL 1603752 MIR523 microRNA 523 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51242727 51242813 + 54201639 54201725 + 53698385 53698471 + 6480464 15965474;16381832;17604727 574471 ABBA01068202;AC011453;AMYH02036431;AY785942;NR_030193 1728265 G63561 MIRN523;hsa-mir-523 APPROVED ncrna ENSG00000208016 HGNC:32103 PROVISIONAL 2313003 MIR525 microRNA 525 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51241875 51241959 + 54200787 54200871 + 53697533 53697617 + 6480464 15965474;16381832;17604727 574470 ABBA01068202;AC011453;AMYH02036431;AY785917;AY882303;NR_030192 1728265 G63561 MIRN525;hsa-mir-525 APPROVED ncrna ENSG00000207711 HGNC:32102 PROVISIONAL 1603745 MIR524 microRNA 524 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51255350 51255436 + 54214256 54214342 + 53711002 53711088 + 6480464 15965474;16381832;17604727;22871495 574478 ABBA01068201;AC011453;AMYH02036431;AY785918;AY882291;NR_030200 MIRN524;hsa-mir-524 APPROVED ncrna ENSG00000207977 HGNC:32110 PROVISIONAL 1603748 MIR526A1 microRNA 526a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51250598 51250682 + 54209506 54209590 + 53706252 53706336 + 15965474;16381832;17604727 574475 ABBA01068202;AC011453;AMYH02036431;AY882336;NR_030197 MIRN526A-1;MIRN526A1 APPROVED ncrna ENSG00000207629 HGNC:32107 PROVISIONAL 1603737 MIR526A2 microRNA 526a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 51271272 51271336 + 54230176 54230240 + 53726922 53726986 + 15965474;16381832;17604727 574486 ABBA01068201;AC011453;AMYH02036431;NR_030208 MIRN526A-2;MIRN526A2 APPROVED ncrna ENSG00000211532 HGNC:32118 PROVISIONAL 1603754 MIR526B microRNA 526b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51238736 51238818 + 54197647 54197729 + 53694393 53694475 + 6480464 15965474;16381832;17604727 574468 ABBA01068202;AC011453;AMYH02036431;AY882287;NR_030190 MIRN526B APPROVED ncrna ENSG00000207580 HGNC:32100 PROVISIONAL 1603726 MIR527 microRNA 527 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51298373 51298457 + 54257272 54257356 + 53754018 53754102 + 15965474;16381832;17604727 574497 ABBA01068200;AC011453;AMYH02036431;NR_030219 MIRN527;hsa-mir-527 APPROVED ncrna ENSG00000207979 HGNC:32129 PROVISIONAL 2313004 MIR543 microRNA 543 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81554368 81554445 + 101498324 101498401 + 101031987 101032064 + 6480464 16381832;16954537;17604727;22752669 100126335 ABBA01048514;AL132709;AMYH02029867;NR_030619 MIRN543;hsa-mir-543 APPROVED ncrna HGNC:33664 PROVISIONAL 1606047 MIR544A microRNA 544a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 81571056 81571146 + 101514995 101515085 + 101048658 101048748 + 6480464 16274478;16381832;17604727;22934698 664613 ABBA01048514;AL132709;AMYH02029867;NR_030257 MIR544;MIRN544;hsa-mir-544;hsa-mir-544a APPROVED ncrna ENSG00000207587 HGNC:32530 PROVISIONAL 1603729 MIR521-1 microRNA 521-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51292998 51293084 + 54251890 54251976 + 53748636 53748722 + 15965474;16381832;17604727 574494 ABBA01068200;AC011453;AMYH02036431;NR_030216 MIRN521-1 APPROVED ncrna ENSG00000207634 HGNC:32126 PROVISIONAL 1603132 MIR532 microRNA 532 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X p11.23 49767754 49767844 + 6480464 16381832;17604727;17616659;19336521;22925189 693124 AC231645;AF222686;NR_030241 MIRN532;hsa-mir-532 APPROVED ncrna HGNC:32795 PROVISIONAL 4109043 MIR544B microRNA 544b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 122858457 122858534 + 124451286 124451363 + 124732439 124732516 + 16381832;20300190 100422864 ABBA01016433;AC022336;AMYH02007563;NR_036088 APPROVED ncrna HGNC:38361 PROVISIONAL 1606046 MIR545 microRNA 545 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 73790405 73790510 - 73506939 73507044 - 74287104 74287209 - 6480464 16274478;16381832;17604727 664614 ABBA01059585;AC004386;AMYH02039776;NR_030258 MIRN545;hsa-mir-545 APPROVED ncrna ENSG00000207820 HGNC:32531 PROVISIONAL 2290246 MIR541 microRNA 541 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81586894 81586977 + 101530832 101530915 + 101064495 101064578 + 6480464 16381832;17604727;23254460;23533592 100126308 ABBA01048514;AL132709;AMYH02029867;NR_030594 MIRN541;hsa-mir-541 APPROVED ncrna ENSG00000216179 HGNC:33650 PROVISIONAL 1603130 MIR548A2 microRNA 548a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 136300643 136300739 + 135560298 135560394 + 135239160 135239256 + 16381832;16505370;17604727;23218918 693126 ABBA01025841;AL023693;AMYH02014546;NR_030317 MIRN548A2 APPROVED ncrna ENSG00000207689 HGNC:32797 PROVISIONAL 1606043 MIR542 microRNA 542 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134062199 134062295 - 133675371 133675467 - 134541341 134541437 - 6480464 16274478;16381832;17604727;17616659;20728447;21860426;22426479;23118427;24403060;24762395 664617 ABBA01042454;AC004383;AMYH02040528;NR_030399 MIRN542;hsa-mir-542 APPROVED ncrna ENSG00000207784 HGNC:32534 PROVISIONAL 4888804 MIR548AA1 microRNA 548aa-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 124360274 124360370 + 123348034 123348130 + 8554872 16381832;20459774 100500863 ABBA01037873;AC021305;AMYH02018703;NR_037516 APPROVED ncrna ENSG00000207704 HGNC:38944 VALIDATED 4888775 MIR548AA2 microRNA 548aa-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 65467605 65467701 + 67471489 67471585 + 16381832;20459774 100500895 AC110921;AMYH02033843;NR_037517 APPROVED ncrna HGNC:38921 PROVISIONAL 1606048 MIR539 microRNA 539 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81569715 81569792 + 101513658 101513735 + 101047321 101047398 + 6480464 16274478;16381832;16973894;17604727;20592104 664612 ABBA01048514;AL132709;AMYH02029867;NR_030256 MIRN539;hsa-mir-539 APPROVED ncrna ENSG00000202560 HGNC:32529 PROVISIONAL 5133930 MIR548AB microRNA 548ab microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 103242877 103242960 - 103524033 103524116 - 16381832;20733160 100616336 ABBA01061755;AC046144;AMYH02007341;NR_039611 APPROVED ncrna ENSG00000265328 HGNC:41825 PROVISIONAL 5133890 MIR548AD microRNA 548ad microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 35696471 35696552 + 35471405 35471486 + 16381832;20733160;21558790 100616475 ABBA01074940;AC083939;AMYH02003591;NR_039629 APPROVED ncrna ENSG00000265301 HGNC:41683 PROVISIONAL 5133937 MIR548AE1 microRNA 548ae-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 185243702 185243771 + 184378975 184379044 + 16381832;20733160 100616305 ABBA01062320;AC096646;AMYH02005385;NR_039638 APPROVED ncrna ENSG00000266808 HGNC:41742 PROVISIONAL 5133899 MIR548AG1 microRNA 548ag-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 61788337 61788402 + 60922619 60922684 + 16381832;20733160 100616450 ABBA01022828;AC093820;AMYH02009316;NR_039652 APPROVED ncrna ENSG00000265829 HGNC:41625 PROVISIONAL 5133927 MIR548AE2 microRNA 548ae-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 57825870 57825936 - 58530043 58530109 - 8554872 16381832;20733160 100616339 ABBA01015787;AC008814;AMYH02011350;NR_039639 APPROVED ncrna ENSG00000265699 HGNC:41831 PROVISIONAL 5133896 MIR548AG2 microRNA 548ag-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 59139620 59139683 + 60564562 60564625 + 16381832;20733160 100616440 ABBA01005949;AL358237;AMYH02037391;NR_039653 APPROVED ncrna ENSG00000265617 HGNC:41745 PROVISIONAL 5133958 MIR548AH microRNA 548ah microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 77496704 77496779 + 76575551 76575626 + 16381832;20733160;21558790;21911355 100616254 ABBA01063363;AC112249;AMYH02009513;NR_039655 APPROVED ncrna HGNC:41605 PROVISIONAL 1603131 MIR548A1 microRNA 548a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 19809879 19809975 + 18572015 18572111 + 18571784 18571880 + 16381832;16505370;17604727 693125 ABBA01022237;AL023655;AMYH02013225;NR_030312 1339965 D6S285 MIRN548A1 APPROVED ncrna ENSG00000207775 HGNC:32796 PROVISIONAL 5133923 MIR548AI microRNA 548ai microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 99572485 99572572 + 99124609 99124696 + 16381832;20733160 100616347 ABBA01014490;AL590022;AMYH02014181;NR_039672 APPROVED ncrna ENSG00000265226 HGNC:41854 PROVISIONAL 5133982 MIR548AJ1 microRNA 548aj-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 132436332 132436403 - 132115192 132115263 - 16381832;20733160 100616191 ABBA01025882;AL021408;AMYH02014499;NR_039673 APPROVED ncrna ENSG00000265669 HGNC:41884 PROVISIONAL 5133963 MIR548AJ2 microRNA 548aj-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X p21.1 37883148 37883239 - 38023895 38023986 - 8554872 16381832;20733160 100616252 AL121578;AMYH02039170;NR_039674 APPROVED ncrna ENSG00000221466 HGNC:41600 PROVISIONAL 5133881 MIR548AK microRNA 548ak microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 12172759 12172815 - 12130760 12130816 - 16381832;20733160 100616488 ABBA01034671;AC073160;AMYH02022140;NR_039699 APPROVED ncrna ENSG00000265653 HGNC:41893 PROVISIONAL 5133910 MIR548AC microRNA 548ac microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 117102646 117102733 - 116560024 116560111 - 16381832;19525953;20733160;22190364 100616384 ABBA01068488;AL355794;AMYH02001792;NR_039621 APPROVED ncrna HGNC:41626 VALIDATED 5133975 MIR548AL microRNA 548al microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 74110282 74110378 + 74399237 74399333 + 16381832;20733160 100616215 ABBA01017489;AMYH02025106;AP001085;NR_039710 APPROVED ncrna ENSG00000264402 HGNC:41736 PROVISIONAL 5134004 MIR548AN microRNA 548an microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 105883044 105883126 + 106639814 106639896 + 16381832;20733160;23754948;24210102 100616144 AL590808;AMYH02040209;NR_039765 APPROVED ncrna HGNC:41681 PROVISIONAL 5133900 MIR548AM microRNA 548am microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 16645135 16645208 - 16627012 16627085 - 8554872 16381832;20733160 100616428 ABBA01071441;AL445467;AMYH02038927;NR_039762 APPROVED ncrna HGNC:41637 PROVISIONAL 6483916 MIR548AO microRNA 548ao microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 41128567 41128662 - 41271048 41271143 - 16381832;21558790 100847068 ABBA01021127;AC104393;AMYH02017869;NR_049801 ncrna HGNC:43539 PROVISIONAL 6483927 MIR548AP microRNA 548ap microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 86368866 86368961 + 85825635 85825730 + 16381832;17903295;21558790 100847084 ABBA01052970;AC104229;AMYH02030974;NR_049805 ncrna ENSG00000264406 HGNC:43465 PROVISIONAL 6483961 MIR548AQ microRNA 548aq microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 185485635 185485692 - 185767847 185767904 - 16381832;21911355 100847078 ABBA01058405;AC108670;AMYH02008334;NR_049838 ncrna HGNC:43488 PROVISIONAL 6483958 MIR548AR microRNA 548ar microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 115009980 115010036 + 114244505 114244561 + 16381832;21911355 100847035 ABBA01006267;AL160396;AMYH02028757;NR_049839 ncrna HGNC:43455 PROVISIONAL 6483966 MIR548AS microRNA 548as microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 93142416 93142473 + 92490163 92490220 + 16381832;21911355 100847092 ABBA01027226;AL159152;AMYH02028478;NR_049840 ncrna HGNC:43550 PROVISIONAL 6483960 MIR548AU microRNA 548au microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 96357123 96357176 + 93594841 93594894 + 16381832;21911355 100847045 ABBA01018615;AL353629;AMYH02021239;NR_049853 ncrna HGNC:43483 PROVISIONAL 6483963 MIR548AV microRNA 548av microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 70520556 70520617 - 72853321 72853382 - 16381832;21911355 100847083 AC091138;AMYH02034977;NR_049858 ncrna HGNC:43537 PROVISIONAL 6483869 MIR548AT microRNA 548at microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 40646791 40646848 + 42494773 42494830 + 16381832;21911355;21980368 100847030 ABBA01006422;AC107993;AMYH02033430;NR_049845 ncrna HGNC:43517 PROVISIONAL 6483942 MIR548AW microRNA 548aw microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 135821094 135821158 + 132945707 132945771 + 16381832;21980368 100846992 AL445645;AMYH02021819;NG_034227;NR_049862 ncrna ENSG00000263816 HGNC:43454 PROVISIONAL 6483918 MIR548AX microRNA 548ax microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 11336734 11336806 - 11318614 11318686 - 16381832;21980368 100847063 ABBA01070901;AC002366;AMYH02038854;NR_049865 ncrna HGNC:43528 PROVISIONAL 1603129 MIR548A3 microRNA 548a-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 8 8 58927825 58962785 - 105496597 105496693 - 104484369 104484465 - 16381832;16505370;17604727 693127 AP002847;NR_030330 1730313 D14S95E MIRN548A3 APPROVED ncrna ENSG00000208032 HGNC:32798 VALIDATED 8550505 MIR548AY microRNA 548ay microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 32506283 32506389 - 16381832;21807764 102465247 ABBA01024939;AC104306;AMYH02006497;NR_106753 hsa-mir-548ay ncrna ENSG00000276147 HGNC:49943 PROVISIONAL 3476301 MIR548E microRNA 548e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 10 10 10 q25.2 106480270 106480357 + 112748684 112748771 + 110988926 110989013 + 16381832;18285502 100313921 ABBA01063019;AL158163;AMYH02023802;NG_028922;NR_031614 MIRN548E;hsa-mir-548e APPROVED ncrna HGNC:35275 VALIDATED 1603128 MIR548B microRNA 548b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 6 6 q22.31 46722370 46722401 - 119390212 119390308 - 119069047 119069143 - 6480464 16381832;16505370;17604727 693128 ABBA01026020;AL137009;AMYH02014377;NR_030315 1701124 RH104190 MIRN548B APPROVED ncrna HGNC:32799 VALIDATED 2974670 MIR548F1 microRNA 548f-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q21.1 49630771 49630854 - 56367634 56367717 - 54607874 54607957 - 16381832;18285502;23034410 100302192 ABBA01019404;AL391356;AMYH02023123;NR_031642 MIR548F-1;MIRN548F1;hsa-mir-548f-1 APPROVED ncrna HGNC:35305 PROVISIONAL 3516314 MIR548F2 microRNA 548f-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 2 2 2 q34 207055764 207055861 - 213290987 213291084 - 212426263 212426360 - 16381832;18285502 100313771 ABBA01062761;AC092680;AMYH02005707;NR_031643 MIR548F-2;MIRN548F2;hsa-mir-548f-2 APPROVED ncrna HGNC:35306 PROVISIONAL 1603126 MIR548D1 microRNA 548d-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 120548926 120549022 - 124360274 124360370 - 123348034 123348130 - 8554872 16381832;16505370;17604727;19486885 693130 ABBA01037873;AC021305;AMYH02018703;NR_030382 MIRN548D1 APPROVED ncrna HGNC:32801 PROVISIONAL 1603127 MIR548C microRNA 548c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 64681073 64681169 + 65016289 65016385 + 64622509 64622605 + 16381832;16505370;17604727;23735785 693129 AC078962;AMYH02026664;NR_030347 MIRN548C APPROVED ncrna HGNC:32800 PROVISIONAL 2974678 MIR548F3 microRNA 548f-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 105795396 105795482 - 109849530 109849616 - 110513829 110513915 - 16381832;18285502 100302159 ABBA01069077;AC012622;AMYH02011959;NR_031644 MIR548F-3;MIRN548F3;hsa-mir-548f-3 APPROVED ncrna HGNC:35307 PROVISIONAL 8551107 MIR548AZ microRNA 548az microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 119325171 119325265 + 16381832;21807764 102466162 AC090451;AMYH02018675;NR_106755 hsa-mir-548az ncrna ENSG00000276479 HGNC:49981 PROVISIONAL 3497319 MIR548F4 microRNA 548f-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 7 7 7 q35 141749278 141749382 - 147075109 147075213 - 147378017 147378121 - 16381832;18285502 100313895 ABBA01033580;AC073273;AMYH02017008;NR_031645 MIR548F-4;MIRN548F4;hsa-mir-548f-4 APPROVED ncrna ENSG00000221442 HGNC:35308 PROVISIONAL 8551141 MIR548BA microRNA 548ba microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 49059603 49059658 + 16381832;23660593 102465854 ABBA01075200;AC079394;AMYH02003787;NR_107011 hsa-mir-548ba ncrna HGNC:50260 PROVISIONAL 2946921 MIR548F5 microRNA 548f-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p21.1 36786893 36786978 - 32659591 32659676 - 32641474 32641559 - 8554872 16381832;18285502 100302239 ABBA01073190;AC004468;AMYH02039142;NR_031646 MIR548F-5;MIRN548F5;hsa-mir-548f-5 APPROVED ncrna HGNC:35309 PROVISIONAL 3497332 MIR548H1 microRNA 548h-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q23.2 44619445 44619546 - 64561742 64561843 - 64095024 64095125 - 16381832;18285502 100313830 ABBA01018349;AL355094;AMYH02029349;NR_031677 MIR548H-1;MIRN548H1 APPROVED ncrna ENSG00000221537 HGNC:35342 PROVISIONAL 3516311 MIR548H2 microRNA 548h-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 16 16 70322675 70322705 - 11400297 11400384 - 11306440 11306527 - 8554872 16381832;18285502 100313773 ABBA01006811;AC009121;AMYH02031463;NR_031678 MIR548H-2;MIRN548H2 APPROVED ncrna ENSG00000221801 HGNC:35343 VALIDATED 3476299 MIR548G microRNA 548g microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 16 4 4 9495811 9525581 + 148265781 148265869 - 147344629 147344717 - 16381832;18285502 100313938 ABBA01070054;AC010683;AMYH02010270;NR_031662 1342128;2179810 D16S687;WI-1796 MIRN548G;hsa-mir-548g APPROVED ncrna ENSG00000221369 HGNC:35326 VALIDATED 5133897 MIR548H5 microRNA 548h-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 132113312 132113371 + 131792172 131792231 + 16381832;20733160 100616455 ABBA01025887;AC005587;AMYH02014495;NR_039610 APPROVED ncrna ENSG00000266807 HGNC:41768 PROVISIONAL 2946928 MIR548I1 microRNA 548i-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 123928915 123929063 - 125509247 125509395 - 125790404 125790552 - 16381832;18285502 100302204 ABBA01016406;AC092902;AC226348;AMYH02007580;NR_031687 MIR548I-1;MIRN548I1;hsa-mir-548i-1 APPROVED ncrna ENSG00000221737 HGNC:35352 PROVISIONAL 2946907 MIR548H3 microRNA 548h-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 17 17 83158408 83158443 + 13446846 13446963 - 13543529 13543646 - 16381832;18285502 100302287 AC005411;AMYH02033018;NR_031679 MIR548H-3;MIRN548H3;hsa-mir-548h-3 APPROVED ncrna HGNC:35344 VALIDATED 2974672 MIR548I3 microRNA 548i-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 7023096 7023244 + 7946463 7946611 - 8088941 8089089 - 16381832;18285502 100302186 AC105233;NR_031689 MIR548I-3;MIRN548I3;hsa-mir-548i-3 APPROVED ncrna ENSG00000221305 HGNC:35354 PROVISIONAL 2974671 MIR548I4 microRNA 548i-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q21.1 83719531 83719607 - 83480760 83480836 - 84225752 84225828 - 16381832;18285502 100302191 ABBA01051539;AL389887;AMYH02039882;NR_031690 MIR548I-4;MIRN548I4;hsa-mir-548i-4 APPROVED ncrna ENSG00000221494 HGNC:35355 PROVISIONAL 2946913 MIR548I2 microRNA 548i-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 10038181 10038329 - 9557789 9557937 - 9556168 9556316 - 16381832;18285502 100302277 ABBA01032501;AC097493;AC116655;AMYH02008739;NR_031688 MIR548I-2;MIRN548I2;hsa-mir-548i-2 APPROVED ncrna ENSG00000221275 HGNC:35353 PROVISIONAL 1603125 MIR548D2 microRNA 548d-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 17 17 44615668 44615698 - 65467605 65467701 - 67471489 67471585 - 16381832;16505370;17604727;19486885;23377640 693131 AC110921;AMYH02033843;NR_030385 MIRN548D2 APPROVED ncrna HGNC:32802 PROVISIONAL 3516313 MIR548K microRNA 548k microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q13.3 67389394 67389509 + 70130061 70130176 + 70283955 70284070 + 16381832;18285502 100313770 ABBA01010305;AMYH02025049;AP002336;NR_031624 MIRN548K APPROVED ncrna HGNC:35285 PROVISIONAL 2946914 MIR548L microRNA 548l microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 91487467 91487552 - 94199661 94199746 - 94466495 94466580 - 16381832;18285502 100302275 ABBA01040029;AP000786;NR_031630 1788092 G67219 MIRN548L;hsa-mir-548l APPROVED ncrna HGNC:35292 PROVISIONAL 3516310 MIR548M microRNA 548m microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q21.33 94843199 94843284 - 94318140 94318225 - 95063141 95063226 - 8554872 16381832;18285502;23957009;24216476 100313772 AL390966;AMYH02039995;NR_031667 MIRN548M APPROVED ncrna ENSG00000221187 HGNC:35331 PROVISIONAL 2974679 MIR548N microRNA 548n microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 7 7 p14.3 17559659 17559694 + 34980372 34980446 - 34940760 34940834 - 8554872 16381832;18285502 100302152 AC005271;AMYH02015507;NR_031666 MIRN548N;hsa-mir-548n APPROVED ncrna HGNC:35330 VALIDATED 3497333 MIR548O microRNA 548o microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q22.1 97058496 97058609 - 102046189 102046302 - 102405742 102405855 - 16381832;18285502 100313829 ABBA01011285;AC073517;AC093668;AMYH02016437;NR_031669 MIRN548O APPROVED ncrna ENSG00000221510 HGNC:35333 PROVISIONAL 5133986 MIR548O2 microRNA 548o-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 37145206 37145275 + 38516563 38516632 + 16381832;20733160 100616190 ABBA01052526;AL049868;AMYH02037062;NR_039605 APPROVED ncrna HGNC:41882 PROVISIONAL 3476302 MIR548J microRNA 548j microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 22 22 22 q12.1 10755029 10755140 - 26951178 26951289 - 26555212 26555323 - 16381832;18285502;23957009 100313914 ABBA01055201;AMYH02038167;NR_031615;Z95115 MIRN548J;hsa-mir-548j APPROVED ncrna ENSG00000221760 HGNC:35276 PROVISIONAL 2946906 MIR548P microRNA 548p microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q21.1 96099835 96099918 - 100152186 100152269 - 100816482 100816565 - 16381832;18285502 100302288 ABBA01069169;AC117530;AMYH02011857;NR_031686 MIRN548P;hsa-mir-548p APPROVED ncrna HGNC:35351 PROVISIONAL 3497326 MIR548Q microRNA 548q microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 p13 12693758 12693857 - 12767253 12767352 - 12725254 12725353 - 16381832;19390579 100313841 ABBA01034640;AL731559;AMYH02022158;NR_031752 APPROVED ncrna ENSG00000221331 HGNC:37312 PROVISIONAL 3497323 MIR548H4 microRNA 548h-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 2 8 8 60708897 60708928 + 26906370 26906480 - 27048853 27048963 - 16381832;18285502 100313884 AC067904;AMYH02017667;NR_031680 MIR548H-4;MIRN548H4;hsa-mir-548h-4 APPROVED ncrna ENSG00000221616 HGNC:35345 VALIDATED 4109065 MIR548T microRNA 548t microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 162633826 162633853 + 174189311 174189384 + 173268160 173268233 + 8554872 16381832;20300190;20532037 100422849 ABBA01070372;AC097534;AMYH02010516;NR_036093 APPROVED ncrna HGNC:38298 VALIDATED 4109064 MIR548S microRNA 548s microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 11824708 11824789 + 11907570 11907651 + 11767444 11767525 + 16381832;20300190 100422862 ABBA01015655;AC012456;AMYH02003293;NR_036071 APPROVED ncrna HGNC:38354 PROVISIONAL 4109037 MIR548U microRNA 548u microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 57254930 57255010 + 57390132 57390212 + 16381832;20300190 100422884 ABBA01050478;AC245511;AL121975;NG_034261;NR_036097 APPROVED ncrna HGNC:38316 PROVISIONAL 4109056 MIR548V microRNA 548v microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 16504736 16504815 - 17539087 17539166 - 17681578 17681657 - 16381832;20300190 100422850 ABBA01021581;AC124069;AMYH02017538;NR_036103 APPROVED ncrna HGNC:38302 PROVISIONAL 4108995 MIR548X microRNA 548x microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 20058408 20058482 - 18686090 18686164 - 16381832;20300190 100422920 ABBA01057138;AMYH02037572;AP001537;NR_036166 APPROVED ncrna ENSG00000265841 HGNC:38248 PROVISIONAL 4888754 MIR548Y microRNA 548y microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 48230198 48230307 - 47760995 47761104 - 16381832;20498841 100500919 AL162551;AMYH02029128;NR_037503 APPROVED ncrna ENSG00000263945 HGNC:38980 PROVISIONAL 4109919 MIR548W microRNA 548w microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 24812965 24813038 + 26036558 26036631 + 26025237 26025310 + 8554872 16381832;20300190 100422923 ABBA01017130;AC093516;AMYH02031756;NR_036146 1829328;1830808;1901158;1901160;1901162;1901164;1901166;1901168;1901170;1901172 ECD15795;ECD16540;REN21378;REN21379;REN21380;REN21381;REN21382;REN21383;REN21384;REN21385 APPROVED ncrna HGNC:38255 PROVISIONAL 5133944 MIR548X2 microRNA 548x-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 66540462 66540561 - 65966330 65966429 - 16381832;20733160 100616302 ABBA01050276;AL158038;AMYH02028189;NR_039692 APPROVED ncrna ENSG00000263581 HGNC:41734 PROVISIONAL 4888811 MIR548Z microRNA 548z microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 65016289 65016385 - 64622509 64622605 - 16381832;20459774 100500856 AC078962;AMYH02026664;NR_037515 APPROVED ncrna HGNC:38929 PROVISIONAL 5133851 MIR550A3 microRNA 550a-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 29720350 29720444 - 29680734 29680828 - 16381832;16954537;20733160;21911355 100616354 ABBA01056801;AC007276;AMYH02015446;NR_039600 APPROVED ncrna ENSG00000212024 HGNC:41870 PROVISIONAL 4888785 MIR550B1 microRNA 550b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 30329410 30329506 - 30289794 30289890 - 16381832;20459774 100500883 ABBA01056813;AC006978;AMYH02015453;NR_037513 APPROVED ncrna HGNC:38992 PROVISIONAL 5134847 MIR550B2 microRNA 550b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 32772593 32772689 - 32732981 32733077 - 16381832;20459774 100500830 ABBA01056849;AC018645;AMYH02015485;NR_037514 APPROVED ncrna HGNC:38910 PROVISIONAL 1603123 MIR550A1 microRNA 550a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p14.3 30318734 30318830 + 30329410 30329506 + 30289794 30289890 + 16381832;16505370;17604727 693133 ABBA01056813;AC006978;AMYH02015453;NR_030319 MIR550-1;MIRN550-1;hsa-mir-550a-1 APPROVED ncrna HGNC:32804 PROVISIONAL 1603124 MIR549A microRNA 549a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q25.1 58071814 58071909 - 81134319 81134414 - 80841978 80842073 - 16381832;16505370 693132 ABBA01060632;AC027808;AMYH02030889;NR_030393 MIR549;MIRN549;hsa-mir-549;hsa-mir-549a APPROVED ncrna ENSG00000208003 HGNC:32803 PROVISIONAL 1603121 MIR551A microRNA 551a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p36.32 2730890 2730985 - 3477259 3477354 - 3560695 3560790 - 16381832;16505370;22469786 693135 ABBA01073657;AL513320;AMYH02000137;NR_030277 MIRN551A APPROVED ncrna HGNC:32806 615148 PROVISIONAL 1603119 MIR552 microRNA 552 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p34.3 33408917 33409012 - 35135200 35135295 - 34669599 34669694 - 6480464 16381832;16505370;23034410;24778034 693137 ABBA01023363;AC099565;AMYH02000748;NR_030278 MIRN552;hsa-mir-552 APPROVED ncrna ENSG00000207941 HGNC:32808 PROVISIONAL 1603120 MIR551B microRNA 551b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q26.2 166668180 166668275 + 168269642 168269737 + 168551854 168551949 + 6480464 16381832;16505370;17604727 693136 ABBA01058721;AC018356;AMYH02008090;NR_030294 MIRN551B APPROVED ncrna ENSG00000207717 HGNC:32807 PROVISIONAL 1603118 MIR553 microRNA 553 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p21.2 99003598 99003665 + 100746797 100746864 + 100281241 100281308 + 6480464 16381832;16505370 693138 ABBA01045442;AL663111;AMYH02001555;NR_030279 MIRN553;hsa-mir-553 APPROVED ncrna HGNC:32809 PROVISIONAL 1603122 MIR550A2 microRNA 550a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p14.3 32757961 32758057 + 32772593 32772689 + 32732981 32733077 + 16381832;16505370;17604727 693134 ABBA01056849;AC018645;AMYH02015485;NR_030320 MIR550-2;MIRN550-2;hsa-mir-550a-2 APPROVED ncrna ENSG00000207573 HGNC:32805 PROVISIONAL 6483939 MIR5579 microRNA 5579 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 79133213 79133270 - 79422169 79422226 - 16381832;21911355 100847000 ABBA01017397;AMYH02025164;AP001838;NR_049841 ncrna ENSG00000266570 HGNC:43485 PROVISIONAL 1603114 MIR557 microRNA 557 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q24.2 141453763 141453860 + 168344762 168344859 + 168375524 168375621 + 16381832;16505370 693142 ABBA01047231;AL022100;AMYH02002105;NR_030284 MIRN557;hsa-mir-557 APPROVED ncrna ENSG00000207974 HGNC:32813 PROVISIONAL 1603117 MIR554 microRNA 554 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q21.3 124633564 124633659 + 151518272 151518367 + 151545796 151545891 + 16381832;16505370 693139 ABBA01049399;AL365436;AMYH02001886;NR_030280 1670123;1836440;1842936;1927484;1927486;1927488;1927490;1927492;1927494;1927496;1927498;1927500 D1S317E;ECD19382;ECD22676;REN34568;REN34569;REN34570;REN34571;REN34572;REN34573;REN34574;REN34575;REN34576 MIRN554;hsa-mir-554 APPROVED ncrna HGNC:32810 PROVISIONAL 2312881 MIR558 microRNA 558 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 p22.3 32602012 32602105 + 32757220 32757313 + 32532153 32532246 + 16381832;16505370;23611898 693143 ABBA01074892;AL133243;AMYH02003552;NR_030285 MIRN558;hsa-mir-558 APPROVED ncrna HGNC:32814 PROVISIONAL 1603116 MIR555 microRNA 555 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q22 128389285 128389380 - 155316141 155316236 - 155346350 155346445 - 16381832;16505370 693140 ABBA01016707;AL139410;AMYH02001944;NR_030282 MIRN555;hsa-mir-555 APPROVED ncrna HGNC:32811 PROVISIONAL 6483956 MIR5580 microRNA 5580 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 54415145 54415202 - 53948427 53948484 - 16381832;21911355 100847076 AL138479;AMYH02029213;NR_049843 ncrna ENSG00000266431 HGNC:43482 PROVISIONAL 1603115 MIR556 microRNA 556 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q23.3 135415415 135415509 + 162312336 162312430 + 162342546 162342640 + 16381832;16505370;17604727 693141 ABBA01047307;AL512785;AMYH02002038;NR_030283 MIRN556;hsa-mir-556 APPROVED ncrna HGNC:32812 PROVISIONAL 6483949 MIR5581 microRNA 5581 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 37966536 37966595 - 37500935 37500994 - 16381832;21911355 100847010 ABBA01023276;AL034379;AMYH02000797;NR_049844 ncrna HGNC:43527 PROVISIONAL 6483953 MIR5582 microRNA 5582 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 46774675 46774742 - 46753125 46753192 - 16381832;21911355 100847020 ABBA01060730;AC115088;AMYH02024711;NR_049846 ncrna HGNC:43461 PROVISIONAL 6483950 MIR5583-1 microRNA 5583-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 37256685 37256743 + 39676721 39676779 + 16381832;21911355 100847025 ABBA01022392;AC016205;AMYH02034590;NR_049847 ncrna ENSG00000266148 HGNC:43491 PROVISIONAL 6483944 MIR5583-2 microRNA 5583-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 37256683 37256741 - 39676719 39676777 - 16381832;21911355 100846997 ABBA01022392;AC016205;AMYH02034590;NR_049848 ncrna HGNC:43471 PROVISIONAL 6483965 MIR5584 microRNA 5584 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 45011165 45011224 + 44545493 44545552 + 16381832;21911355 100847089 ABBA01050921;AL596225;AMYH02000918;NR_049849 ncrna HGNC:43507 PROVISIONAL 6483951 MIR5585 microRNA 5585 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 32552550 32552608 + 32086949 32087007 + 16381832;21911355 100847018 ABBA01023443;AL445248;AMYH02000703;NR_049850 ncrna HGNC:43452 PROVISIONAL 6483952 MIR5587 microRNA 5587 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 585316 585368 + 535316 535368 + 16381832;21911355 100847028 ABBA01030364;AMYH02031196;NR_049852;Z97986 ncrna HGNC:43508 PROVISIONAL 6483962 MIR5586 microRNA 5586 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 60113680 60113738 - 59646962 59647020 - 16381832;21911355 100847088 ABBA01018271;AL121694;AMYH02029290;NR_049851 ncrna HGNC:43493 PROVISIONAL 6483964 MIR5589 microRNA 5589 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 10149030 10149089 + 10038354 10038413 + 16381832;21911355 100847093 ABBA01029952;AC020931;AMYH02035482;NR_049855 ncrna ENSG00000266204 HGNC:43514 PROVISIONAL 1603113 MIR559 microRNA 559 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 p21 47443567 47443662 + 47604814 47604909 + 47377675 47377770 + 6480464;8554872 16381832;16505370;19486885 693144 AC079775;AMYH02003754;NG_012352;NR_030286 MIRN559;hsa-mir-559 APPROVED ncrna HGNC:32815 VALIDATED 6483959 MIR5590 microRNA 5590 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 135615390 135615443 + 134857820 134857873 + 16381832;21911355 100847069 AC016725;AMYH02004835;NR_049856 ncrna HGNC:43541 PROVISIONAL 6483957 MIR5591 microRNA 5591 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 39413530 39413594 + 39411910 39411974 + 16381832;21911355 100847065 AC023135;AMYH02009054;NR_049857 ncrna HGNC:43531 PROVISIONAL 1603110 MIR562 microRNA 562 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 226800556 226800650 + 233037363 233037457 + 232172653 232172747 + 16381832;16505370;19789318 693147 ABBA01002024;AC138658;AMYH02005982;NG_032572;NR_030288 MIRN562;hsa-mir-562 APPROVED ncrna HGNC:32818 VALIDATED 7770448 MIR5572 microRNA 5572 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 80581103 80581239 + 16381832;21895886 100847042 ABBA01060629;AC108451;AMYH02030884;NR_049837 ncrna HGNC:43476 PROVISIONAL 7489822 MIR5588 microRNA 5588 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 185253210 185253272 - 16381832;21911355 100847054 ABBA01058425;AC007934;AMYH02008321;NR_106712 ncrna HGNC:43505 PROVISIONAL 2312880 MIR567 microRNA 567 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q13.2 110230724 110230821 + 111831648 111831745 + 112112801 112112898 + 16381832;16505370 693152 ABBA01061667;AC024887;AMYH02007437;NR_030292 MIRN567;hsa-mir-567 APPROVED ncrna HGNC:32823 PROVISIONAL 6483940 MIR5680 microRNA 5680 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 103137660 103137743 + 102125432 102125515 + 16381832;21980368 100847001 AMYH02018526;AP001328;NR_049859 ncrna ENSG00000266756 HGNC:43492 PROVISIONAL 3539737 MIR568 microRNA 568 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 112442688 112442782 - 114035322 114035416 - 114316475 114316569 - 16381832;16505370;24053186 693153 ABBA01061638;AC093010;AMYH02007457;NR_030293 1649871;1735148 D3S2807E;WI-11339 MIRN568;hsa-mir-568 APPROVED ncrna ENSG00000207770 HGNC:32824 PROVISIONAL 6483913 MIR5681A microRNA 5681a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 75460778 75460852 + 74548543 74548617 + 16381832;21980368 100847058 AC102802;NR_049860 ncrna ENSG00000266502 HGNC:43518 PROVISIONAL 1603109 MIR563 microRNA 563 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p25.1 15854236 15854314 + 15915278 15915356 + 15873771 15873849 + 6480464 16381832;16505370 693148 ABBA01025136;AC090945;AMYH02006336;NR_030289 2112712 D3S4418 MIRN563;hsa-mir-563 APPROVED ncrna ENSG00000207815 HGNC:32819 PROVISIONAL 6483931 MIR5681B microRNA 5681b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 75460785 75460844 - 74548550 74548609 - 16381832;21980368 100847091 AC102802;AMYH02018236;NR_049871 ncrna HGNC:43538 PROVISIONAL 1603111 MIR561 microRNA 561 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q32.1 182757547 182757643 + 189162219 189162315 + 188297492 188297588 + 16381832;16505370;17604727 693146 ABBA01062363;AC104131;AMYH02005419;NR_030287 MIRN561;hsa-mir-561 APPROVED ncrna ENSG00000207951 HGNC:32817 PROVISIONAL 6483902 MIR5682 microRNA 5682 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 120768487 120768562 + 121049640 121049715 + 16381832;21980368 100847043 ABBA01016490;AC078857;AMYH02007521;NR_049861 ncrna HGNC:43477 PROVISIONAL 6483926 MIR5685 microRNA 5685 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 53141791 53141869 + 53276993 53277071 + 16381832;21980368 100847075 ABBA01050539;AL034374;AMYH02013747;NG_034263;NR_049866 ncrna ENSG00000264056 HGNC:43543 PROVISIONAL 6483886 MIR5687 microRNA 5687 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 54804678 54804754 - 55508850 55508926 - 16381832;21980368 100847019 ABBA01015742;AC025777;AMYH02011314;NR_049869 ncrna HGNC:43457 PROVISIONAL 6483921 MIR5684 microRNA 5684 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 12897942 12898006 + 12787128 12787192 + 16381832;21980368 100847071 ABBA01029773;AC018761;AMYH02035557;NR_049864 ncrna ENSG00000263800 HGNC:43544 PROVISIONAL 6483898 MIR5683 microRNA 5683 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6169567 6169642 + 6169334 6169409 + 16381832;21980368;24324551 100847034 ABBA01022015;AL157775;AMYH02013041;NR_049863 ncrna HGNC:43453 PROVISIONAL 6483928 MIR5688 microRNA 5688 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 85434860 85434942 + 85385710 85385792 + 16381832;21980368 100847077 ABBA01031083;AC108700;AMYH02007188;NR_049870 ncrna HGNC:43463 PROVISIONAL 6483943 MIR5689 microRNA 5689 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 10439950 10440027 + 10439717 10439794 + 16381832;21980368 100846998 AL138885;AMYH02013095;NR_049872 ncrna ENSG00000263705 HGNC:43479 PROVISIONAL 6483901 MIR5690 microRNA 5690 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 35632494 35632566 - 35664717 35664789 - 16381832;21980368 100847048 ABBA01038240;AL033519;AMYH02013543;NR_049873 ncrna ENSG00000265527 HGNC:43490 PROVISIONAL 6483888 MIR5691 microRNA 5691 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 9111859 9111926 - 9090312 9090379 - 16381832;21980368;23279374 100847015 ABBA01061201;AC079296;AMYH02024306;NR_049874 ncrna HGNC:43545 PROVISIONAL 6483917 MIR5692A1 microRNA 5692a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 97592970 97593038 + 97963658 97963726 + 16381832;21980368 100847066 ABBA01045740;AC004967;AMYH02016319;NR_049875 ncrna ENSG00000266318 HGNC:43533 PROVISIONAL 6483900 MIR5692A2 microRNA 5692a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 12576641 12576699 + 12719132 12719190 + 16381832;21980368 100847038 ABBA01021634;AC123777;AMYH02017469;NR_049876 ncrna ENSG00000264512 HGNC:43466 PROVISIONAL 6483946 MIR5692B microRNA 5692b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 44371038 44371124 - 42950928 42951014 - 16381832;21980368 100847013 ABBA01004524;AMYH02037884;AP001630;NR_049889 ncrna ENSG00000264580 HGNC:43535 PROVISIONAL 6483890 MIR5692C2 microRNA 5692c-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 97593717 97593793 - 97964405 97964481 - 16381832;21980368 100847017 ABBA01045740;AC004967;AMYH02016319;NR_049868 ncrna ENSG00000266668 HGNC:43448 PROVISIONAL 6483941 MIR5693 microRNA 5693 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 51922703 51922775 - 51348567 51348639 - 16381832;21980368 100847003 ABBA01051048;AL137780;AMYH02028031;NR_049878 ncrna ENSG00000266072 HGNC:43499 PROVISIONAL 6483919 MIR5694 microRNA 5694 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 67908572 67908647 - 67441855 67441930 - 16381832;21980368 100847064 ABBA01023712;AL139785;AMYH02029399;NR_049879 ncrna ENSG00000265993 HGNC:43530 PROVISIONAL 6483924 MIR5692C1 microRNA 5692c-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 135138674 135138764 - 135802985 135803075 - 16381832;21980368 100847082 ABBA01068722;AC011431;AMYH02012259;NR_049867 ncrna ENSG00000265924 HGNC:43506 PROVISIONAL 1603108 MIR564 microRNA 564 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.31 44841346 44841439 + 44903380 44903473 + 44861888 44861981 + 6480464 16381832;16505370;22511990 693149 ABBA01024735;AC098649;AMYH02006651;NR_030290 MIRN564;hsa-mir-564 APPROVED ncrna HGNC:32820 PROVISIONAL 1603105 MIR569 microRNA 569 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q26.2 169224326 169224421 - 170824453 170824548 - 171106664 171106759 - 6480464 16381832;16505370 693154 ABBA01058669;AC026315;AMYH02008129;NR_030295 MIRN569;hsa-mir-569 APPROVED ncrna HGNC:32825 PROVISIONAL 6483889 MIR5695 microRNA 5695 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 13031134 13031218 + 12920320 12920404 + 16381832;21980368 100847016 ABBA01029763;AC092069;AMYH02035560;NG_033049;NR_049880 ncrna ENSG00000266721 HGNC:43548 REVIEWED 6483897 MIR5698 microRNA 5698 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 154076997 154077068 - 154104521 154104592 - 16381832;21980368 100847024 AL513546;AMYH02001916;NR_049883 ncrna HGNC:43487 PROVISIONAL 6483945 MIR5696 microRNA 5696 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 101925912 101925996 + 101309450 101309534 + 16381832;21980368 100847007 ABBA01073912;AC073643;AMYH02004424;NR_049881 ncrna ENSG00000264857 HGNC:43516 PROVISIONAL 6483909 MIR5697 microRNA 5697 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 10027439 10027516 + 9967381 9967458 + 16381832;21980368 100847055 ABBA01035579;AL357140;AMYH02000258;NG_032954;NR_049882 ncrna ENSG00000265521 HGNC:43509 PROVISIONAL 6483934 MIR5699 microRNA 5699 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 687629 687718 - 641689 641778 - 16381832;21980368;23034410 100847086 ABBA01035265;AL358216;AMYH02021977;NR_049884 ncrna HGNC:43456 PROVISIONAL 1603106 MIR566 microRNA 566 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 50183587 50183680 + 50210759 50210852 + 50173326 50173419 + 6480464 16381832;16505370;24650032 693151 ABBA01024554;AC104450;AMYH02006766;NR_030291 1793474 PMC22669P18 MIRN566;hsa-mir-566 APPROVED ncrna HGNC:32822 PROVISIONAL 6483893 MIR5700 microRNA 5700 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 94955565 94955635 + 94561789 94561859 + 16381832;21980368 100847031 ABBA01053362;AC023161;AMYH02026954;NR_049885 ncrna ENSG00000266099 HGNC:43521 PROVISIONAL 6483915 MIR5701-1 microRNA 5701-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 21145581 21145662 + 20940252 20940333 + 16381832;21980368 100847060 AC037471;NR_049886 ncrna ENSG00000266545 HGNC:43522 PROVISIONAL 6483947 MIR5701-2 microRNA 5701-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 22156766 22156847 + 21951242 21951323 + 16381832;21980368 100847005 ABBA01209868;AC183089;AMYH02030013;NR_049895 ncrna ENSG00000264902 HGNC:43510 PROVISIONAL 6483929 MIR5703 microRNA 5703 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 228336848 228336903 + 227472132 227472187 + 16381832;21980368 100847081 ABBA01050182;AC097662;AMYH02005921;NR_049888 ncrna ENSG00000266382 HGNC:43475 PROVISIONAL 6483910 MIR5702 microRNA 5702 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 227523426 227523509 - 226658710 226658793 - 16381832;21980368 100847053 ABBA01050193;AC079402;AMYH02005914;NR_049887 ncrna ENSG00000263363 HGNC:43503 PROVISIONAL 6483896 MIR5705 microRNA 5705 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 88221647 88221735 - 87300495 87300583 - 16381832;21980368 100847027 AC108516;AMYH02009669;NR_049891 ncrna ENSG00000263981 HGNC:43504 PROVISIONAL 6483925 MIR5706 microRNA 5706 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 118490332 118490411 + 119154637 119154716 + 16381832;21980368 100847085 ABBA01068978;AC118465;AMYH02012054;NR_049892 ncrna HGNC:43500 PROVISIONAL 6483907 MIR5704 microRNA 5704 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 131704699 131704775 - 131985855 131985931 - 16381832;21980368 100847040 ABBA01059191;AC076961;AMYH02007678;NR_049890 ncrna HGNC:43469 PROVISIONAL 6483894 MIR5707 microRNA 5707 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 158384308 158384388 + 158591616 158591696 + 16381832;21980368 100847032 ABBA01032318;AC093662;AMYH02017180;NR_049893 ncrna ENSG00000265598 HGNC:43449 PROVISIONAL 6483908 MIR5708 microRNA 5708 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 81153624 81153708 + 80241389 80241473 + 16381832;21980368 100847056 ABBA01004067;AC104212;AMYH02018299;NR_049894 ncrna ENSG00000265588 HGNC:43511 PROVISIONAL 1603104 MIR570 microRNA 570 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 3611 3707 + 195426272 195426368 + 195699401 195699497 + 6480464 16381832;16505370;17604727;23430453 693155 ABBA01007598;AC069513;AC233280;AMYH02008474;NR_030296 MIRN570;hsa-mir-570 APPROVED ncrna ENSG00000207650 HGNC:32826 614538 PROVISIONAL 3539736 MIR574 microRNA 574 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 38869653 38869748 + 38868032 38868127 + 6480464 16381832;16505370;17604727;17616659;21258252;22180294;22344312;22683180;23124769;23133627;23133646;23626837;23790110;23817571 693159 AC108044;AMYH02009040;NR_030300 1695688 SHGC-78730 MIR574-3p;MIRN574;hsa-mir-574 APPROVED ncrna ENSG00000207944 HGNC:32830 615469 PROVISIONAL 1603101 MIR573 microRNA 573 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 p15.2 24971221 24971319 - 24521815 24521913 - 24520192 24520290 - 16381832;16505370;23670160;23918034;24067935 693158 ABBA01032683;AC115110;AMYH02008899;NR_030299 MIRN573;hsa-mir-573 APPROVED ncrna ENSG00000207697 HGNC:32829 PROVISIONAL 1603098 MIR577 microRNA 577 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q26 112871366 112871461 + 115577915 115578010 + 114656759 114656854 + 16381832;16505370;24294352 693162 ABBA01063846;AC122938;AMYH02009958;NR_030303 MIRN577;hsa-mir-577 APPROVED ncrna HGNC:32833 PROVISIONAL 1603099 MIR576 microRNA 576 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 107703771 107703868 + 110409854 110409951 + 109488698 109488795 + 6480464 16381832;16505370;17604727;24116168 693161 ABBA01063776;AC105314;AMYH02009897;NG_032166;NR_030302 MIRN576;hsa-mir-576 APPROVED ncrna HGNC:32832 VALIDATED 1603097 MIR578 microRNA 578 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q32.3 163642825 163642920 + 166307394 166307489 + 165386242 165386337 + 6480464 16381832;16505370 693163 ABBA01070291;AC012504;AMYH02010441;NR_030304 MIRN578;hsa-mir-578 APPROVED ncrna HGNC:32834 PROVISIONAL 1603100 MIR575 microRNA 575 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q21.22 80965505 80965598 - 83674490 83674583 - 82753337 82753430 - 6480464 16381832;16505370 693160 ABBA01063442;AC073413;AMYH02009605;NR_030301 MIRN575;hsa-mir-575 APPROVED ncrna HGNC:32831 PROVISIONAL 1603103 MIR571 microRNA 571 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 p16.3 285657 285752 + 343946 344041 + 350157 350252 + 6480464 16381832;16505370;22412969 693156 ABBA01019327;AC079140;AMYH02008550;NR_030297 MIRN571;hsa-mir-571 APPROVED ncrna HGNC:32827 PROVISIONAL 1603102 MIR572 microRNA 572 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 p15.33 11834870 11834964 + 11370451 11370545 + 11368827 11368921 + 6480464 16381832;16505370 693157 ABBA01032529;AC006230;AMYH02008759;NR_030298 2189115 G65141 MIRN572;hsa-mir-572 APPROVED ncrna ENSG00000207716 HGNC:32828 PROVISIONAL 1603096 MIR579 microRNA 579 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 p13.3 32276195 32276292 - 32394484 32394581 - 32394378 32394475 - 6480464 16381832;16505370;17604727;21562054;23034410 693164 ABBA01066742;AC008949;AMYH02011126;NR_030305 MIRN579;hsa-mir-579 APPROVED ncrna HGNC:32835 PROVISIONAL 1603095 MIR580 microRNA 580 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 p13.2 36033687 36033783 - 36147994 36148090 - 36147892 36147988 - 16381832;16505370;22266852;23034410 693165 ABBA01024162;AC008942;AMYH02011163;NG_029643;NR_030306 MIRN580;hsa-mir-580 APPROVED ncrna ENSG00000207756 HGNC:32836 VALIDATED 1603093 MIR582 microRNA 582 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q12.1 55939701 55939798 - 58999432 58999529 - 59703606 59703703 - 6480464 16381832;16505370;17604727;17616659 693167 ABBA01015796;AC117527;AMYH02011362;NG_027957;NR_030308 MIRN582;hsa-mir-582 APPROVED ncrna HGNC:32838 VALIDATED 1603092 MIR583 microRNA 583 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q15 91293649 91293723 + 95414842 95414916 + 96079138 96079212 + 6480464 16381832;16505370 693168 ABBA01069243;AC104123;AMYH02011825;NR_030309 MIRN583;hsa-mir-583 APPROVED ncrna ENSG00000207578 HGNC:32839 PROVISIONAL 1603094 MIR581 microRNA 581 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q11.2 50200951 50201046 - 53247334 53247429 - 53951504 53951599 - 16381832;16505370 693166 ABBA01015723;AC024571;AMYH02011298;NR_030307 MIRN581;hsa-mir-581 APPROVED ncrna HGNC:32837 PROVISIONAL 1603090 MIR585 microRNA 585 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q35.1 164726768 164726862 - 168690605 168690698 - 169263601 169263694 - 16381832;16505370;23034410 693170 ABBA01044111;AC112165;AMYH02012705;NG_033081;NR_030311 1780734 bac51858T MIRN585;hsa-mir-585 APPROVED ncrna HGNC:32841 VALIDATED 1603089 MIR586 microRNA 586 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 p21.1 46718110 46718206 - 45165411 45165507 - 45197674 45197770 - 16381832;16505370;19259136;21687927 693171 ABBA01050632;AL138880;AMYH02013676;NR_030313 MIRN586;hsa-mir-586 APPROVED ncrna HGNC:32842 PROVISIONAL 8551126 MIR5787 microRNA 5787 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 50227436 50227490 + 16381832;22062548 102464817 ABBA01024553;AC002077;AMYH02006766;NR_106714 hsa-mir-5787 ncrna HGNC:49930 PROVISIONAL 8550985 MIR5739 microRNA 5739 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 28459869 28459948 + 16381832;22020071 102466081 ABBA01055227;AL080241;AMYH02038181;NR_106713 hsa-mir-5739 ncrna ENSG00000276162 HGNC:49977 PROVISIONAL 1603088 MIR587 microRNA 587 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 q21 107852568 107852663 + 107232000 107232095 + 106784125 106784220 + 16381832;16505370 693172 ABBA01026191;AL080314;AMYH02014246;NR_030314 MIRN587;hsa-mir-587 APPROVED ncrna ENSG00000207577 HGNC:32843 PROVISIONAL 1603086 MIR589 microRNA 589 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p22.1 5495738 5495836 - 5535450 5535548 - 5495819 5495917 - 16381832;16505370;17604727;23118514;24068947 693174 ABBA01039458;AC092171;AMYH02015140;NR_030318 MIRN589;hsa-mir-589 APPROVED ncrna HGNC:32845 PROVISIONAL 1603085 MIR590 microRNA 590 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q11.23 69084962 69085058 + 73605528 73605624 + 74191198 74191294 + 6480464 16381832;16505370;17604727;21548758;24063284 693175 ABBA01063907;AC005057;AMYH02016039;NR_030321 MIRN590;hsa-mir-590 APPROVED ncrna HGNC:32846 615070 PROVISIONAL 1603087 MIR588 microRNA 588 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 q22.32 127548064 127548146 + 126805777 126805859 + 126484631 126484713 + 16381832;16505370;20848476 693173 ABBA01025943;AL356534;AMYH02014439;NR_030316 MIRN588;hsa-mir-588 APPROVED ncrna ENSG00000207632 HGNC:32844 PROVISIONAL 1603091 MIR584 microRNA 584 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q32 144523931 144524027 - 148441876 148441972 - 149062313 149062409 - 6480464 16381832;16505370;17604727;17616659;19665576;21119662;22536353;23479725;23943853 693169 ABBA01026312;AC011364;AMYH02012441;NG_007947;NR_030310 MIRN584;hsa-mir-584 APPROVED ncrna HGNC:32840 VALIDATED 1603084 MIR591 microRNA 591 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q21.3 90548852 90548946 - 95848974 95849068 - 96219662 96219756 - 6480464 16381832;16505370;23807165 693176 ABBA01045773;AC096775;AMYH02016302;CH236949;NR_030322 MIRN591;hsa-mir-591 APPROVED ncrna HGNC:32847 PROVISIONAL 1603081 MIR595 microRNA 595 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q36.3 152750977 152751072 - 158325410 158325505 - 158532718 158532813 - 6480464 16381832;16505370 693180 ABBA01032319;AC078942;AMYH02017177;CH236954;NG_029966;NR_030325 MIRN595;hsa-mir-595 APPROVED ncrna HGNC:32851 VALIDATED 1603079 MIR597 microRNA 597 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p23.1 8723191 8723287 + 9599182 9599278 + 9741672 9741768 + 6480464 16381832;16505370;17604727;23034410 693182 ABBA01026900;AC103834;AMYH02017416;NR_030327 MIRN597;hsa-mir-597 APPROVED ncrna HGNC:32853 PROVISIONAL 1603083 MIR592 microRNA 592 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q31.33 121499469 121499565 - 126698142 126698238 - 127058088 127058184 - 6480464 16381832;16505370;24778034 693177 ABBA01057690;AC000364;AMYH02016703;CH236947;NG_029532;NR_030323 1816644;1821956;1844340;2084280;2084282;2084284;2084286;2084288;2084290;2084292;2084294;2084296;2084298;2196258 ECD09365;ECD12064;ECD23384;REN113388;REN113389;REN113390;REN113391;REN113392;REN113393;REN113394;REN113395;REN113396;REN113397;stSG613364 MIRN592;hsa-mir-592 APPROVED ncrna HGNC:32848 VALIDATED 1603082 MIR593 microRNA 593 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q32.1 122525316 122525415 + 127721913 127722012 + 128081861 128081960 + 16381832;16505370;17604727;21170987 693178 ABBA01057679;AC008039;AMYH02016713;CH236947;NR_030324 MIRN593;hsa-mir-593 APPROVED ncrna HGNC:32849 PROVISIONAL 1603078 MIR598 microRNA 598 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p23.1 10020573 10020669 - 10892716 10892812 - 11035206 11035302 - 6480464 16381832;16505370;17604727;23034410 693183 ABBA01026885;AC105108;AMYH02017432;NR_030328 MIRN598;hsa-mir-598 APPROVED ncrna HGNC:32854 PROVISIONAL 1603073 MIR603 microRNA 603 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 24256561 24256657 + 24564614 24564710 + 24275685 24275781 + 6480464 16381832;16505370;23817697 693188 ABBA01034453;AC063961;AMYH02022463;NR_030334 1705694 SHGC-83428 MIRN603;hsa-mir-603 APPROVED ncrna HGNC:32859 PROVISIONAL 1342495 MIR600HG MIR600 host gene (non-protein coding) INTERACTS WITH calcitriol; paracetamol; testosterone 9 9 9 q33.3 96520042 96526031 - 125871773 125877756 - 123109494 123115477 - 737633;6480464 12477932 14702039;15164053;15489334;17974005;19322201 81571 ABBA01043719;AF251293;AI699420;AJ420426;AK025814;AK123844;AL365338;AMYH02021600;BC015678;BC034918;BX648949;CR749230;NR_026677 AAG44593;ABM83736;ABM87055;CAH18086 Hs.708072;Hs.733860 1673983;1774040;2126464;2136611 RH12370;RH18474;WI-15856;WI-21191 C9orf45;DKFZp779O012;FLJ22161;GL012;NCRNA00287 APPROVED ncrna ENSG00000236901 HGNC:23642 12960 VALIDATED 1603072 MIR604 microRNA 604 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 p11.23 29598993 29599086 - 29833933 29834026 - 29545004 29545097 - 6480464 16381832;16505370;19138993;19851984;20585341;20732906 693189 ABBA01034364;AL160060;AMYH02022547;NG_033998;NR_030335 MIRN604;hsa-mir-604 APPROVED ncrna HGNC:32860 VALIDATED 1603076 MIR600 microRNA 600 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q33.3 96522094 96522191 - 125873825 125873922 - 123111546 123111643 - 16381832;16505370 693185 ABBA01043719;AL365338;AMYH02021600;NR_030331 MIRN600;hsa-mir-600 APPROVED ncrna ENSG00000274325 HGNC:32856 PROVISIONAL 1603077 MIR599 microRNA 599 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q22.2 96734598 96734692 - 100548864 100548958 - 99536636 99536730 - 16381832;16505370 693184 ABBA01037556;AC026827;AMYH02018493;NR_030329 MIRN599;hsa-mir-599 APPROVED ncrna ENSG00000207804 HGNC:32855 PROVISIONAL 1603075 MIR601 microRNA 601 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q33.3 96813036 96813114 - 126164804 126164882 - 123402525 123402603 - 6480464 16381832;16505370;19889580;22970209 693186 ABBA01043728;AL445489;AMYH02021614;NR_030332 MIRN601;hsa-mir-601 APPROVED ncrna HGNC:32857 PROVISIONAL 1603074 MIR602 microRNA 602 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q34.3 111259168 111259265 + 140732871 140732968 + 137838419 137838516 + 6480464 16381832;16505370;20364114 693187 ABBA01022787;AL611925;AMYH02021949;NR_030333 MIRN602;hsa-mir-602 APPROVED ncrna ENSG00000207693 HGNC:32858 PROVISIONAL 1603070 MIR606 microRNA 606 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q22.2 70601473 70601568 + 77312216 77312311 + 75552458 75552553 + 6480464 16381832;16505370 693191 ABBA01020252;AL589863;AMYH02023366;NR_030337 MIRN606;hsa-mir-606 APPROVED ncrna HGNC:32862 PROVISIONAL 1603071 MIR605 microRNA 605 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q21.1 46322022 46322104 + 53059333 53059415 + 51299573 51299655 + 16381832;16505370;21217645;21671485;21976437;23226537 693190 ABBA01052499;AC069079;AMYH02023068;NG_029982;NR_030336 MIRN605;hsa-mir-605 APPROVED ncrna HGNC:32861 VALIDATED 1603080 MIR596 microRNA 596 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p23.3 1708793 1708869 + 1765397 1765473 + 1817231 1817307 + 6480464 16381832;16505370;23233740 693181 ABBA01016746;AC019257;AMYH02017233;NR_030326 MIRN596;hsa-mir-596 APPROVED ncrna ENSG00000207826 HGNC:32852 PROVISIONAL 1603069 MIR607 microRNA 607 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 92329999 92330094 - 98588426 98588521 - 96828669 96828764 - 6480464 16381832;16505370 693192 AL162502;AMYH02023599;NR_030338 MIRN607;hsa-mir-607 APPROVED ncrna ENSG00000207976 HGNC:32863 PROVISIONAL 8549883 MIR6072 microRNA 6072 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 2076019 2076089 - 16381832;22282338 102465944 ABBA01035241;AL441943;AMYH02021994;NR_106720 hsa-mir-6072 ncrna ENSG00000278069 HGNC:50144 PROVISIONAL 8551608 MIR6073 microRNA 6073 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 15969533 15969621 - 16381832;22282338 102464826 ABBA01061086;AC009869;AMYH02024364;NR_106721 hsa-mir-6073 ncrna ENSG00000274140 HGNC:50128 PROVISIONAL 8551687 MIR6070 microRNA 6070 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 43609887 43609989 - 16381832;22282338 102464825 ABBA01074127;AMYH02037896;AP001051;NR_106718 hsa-mir-6070 ncrna HGNC:49950 PROVISIONAL 8550555 MIR6071 microRNA 6071 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 85783600 85783677 - 16381832;22282338 102466516 ABBA01075769;AC012454;AMYH02004187;NR_106719 hsa-mir-6071 ncrna ENSG00000278783 HGNC:50229 PROVISIONAL 8549828 MIR6076 microRNA 6076 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 49966399 49966511 + 16381832;22282338 102464828 ABBA01018127;AL117692;AMYH02029162;NR_106724 hsa-mir-6076 ncrna ENSG00000278038 HGNC:50232 PROVISIONAL 8550134 MIR6074 microRNA 6074 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 66023620 66023726 - 16381832;22282338 102464827 ABBA01026579;AC090673;AMYH02026675;NR_106722 hsa-mir-6074 ncrna ENSG00000276878 HGNC:50060 PROVISIONAL 8550074 MIR6075 microRNA 6075 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 1510762 1510856 - 16381832;22282338 102466103 ABBA01034202;AC091849;AMYH02010766;NR_106723 hsa-mir-6075 ncrna HGNC:50198 PROVISIONAL 8550788 MIR6069 microRNA 6069 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 35336721 35336799 - 16381832;22282338 102464824 ABBA01055413;AL008635;AMYH02038299;NR_106717 hsa-mir-6069 ncrna ENSG00000274280 HGNC:50124 PROVISIONAL 8551418 MIR6077-1 microRNA 6077-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16381832;22282338 102466517 BX284650 hsa-mir-6077-1 ncrna HGNC:50025 8550426 MIR6079 microRNA 6079 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 43838622 43838683 + 16381832;22282338 102464830 ABBA01050941;AL592548;AMYH02000908;NR_106727 hsa-mir-6079 ncrna HGNC:50114 PROVISIONAL 1603068 MIR608 microRNA 608 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q24.31 96472463 96472562 + 102734742 102734841 + 100974985 100975084 + 8554872 16381832;16505370;19138993;19851984;20732906;22586447;22606253;23347277;23796562 693193 ABBA01063213;AL133215;AMYH02023664;NR_030339 MIRN608;hsa-mir-608 APPROVED ncrna HGNC:32864 PROVISIONAL 8549977 MIR6077 microRNA 6077 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 148388282 148388363 + 16381832;22282338 102466225 ABBA01053732;AC245100;AL592207;BX284650;NR_106967 MIR6077;MIR6077-1;hsa-mir-6077-1;hsa-mir-6077-2 APPROVED ncrna ENSG00000278596 HGNC:50025 PROVISIONAL 8551465 MIR6068 microRNA 6068 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 63326925 63326984 - 16381832;22282338 102464823 ABBA01074575;AL049636;AMYH02001152;NR_106716 hsa-mir-6068 ncrna ENSG00000275836 HGNC:50261 PROVISIONAL 8551030 MIR6078 microRNA 6078 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 3991160 3991259 + 16381832;22282338 102464829 ABBA01035213;AL139816;AMYH02022015;NR_106726 hsa-mir-6078 ncrna ENSG00000274809 HGNC:50136 PROVISIONAL 8550657 MIR6082 microRNA 6082 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 171186184 171186292 + 16381832;22282338;9847074 102466953 ABBA01070352;AC092639;AMYH02010496;NR_106730 hsa-mir-6082 ncrna ENSG00000278502 HGNC:49984 PROVISIONAL 8550695 MIR6080 microRNA 6080 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 64780759 64780824 + 16381832;22282338 102464831 ABBA01035283;AC103810;AMYH02033799;NR_106728 hsa-mir-6080 ncrna ENSG00000278581 HGNC:50142 PROVISIONAL 8550483 MIR6083 microRNA 6083 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 124374332 124374437 + 16381832;22282338 102464832 ABBA01016440;AC069233;AMYH02007561;NR_106731 hsa-mir-6083 ncrna HGNC:50076 PROVISIONAL 8550589 MIR6085 microRNA 6085 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 62343029 62343138 + 16381832;22282338 102464834 ABBA01038926;AC032011;AMYH02030574;NR_106733 hsa-mir-6085 ncrna ENSG00000275451 HGNC:50002 PROVISIONAL 8550478 MIR6084 microRNA 6084 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 20633679 20633788 + 16381832;22282338 102464833 ABBA01059790;AL391357;AMYH02000431;NR_106732 hsa-mir-6084 ncrna HGNC:50235 PROVISIONAL 8551692 MIR6089 microRNA 6089 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X;Y p22.3 and Yp11.3 2609191 2609254 + 16381832;22142236 102464837 ABBA01038606;AC097314;AMYH02038710;NR_106737 MIR6089-1;MIR6089-2;hsa-mir-6089-1;hsa-mir-6089-2 APPROVED ncrna ENSG00000277120 HGNC:50179 PROVISIONAL 8550325 MIR6089-2 microRNA 6089-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16381832;22142236 102465682 AC097314;NR_106968 hsa-mir-6089-2 ncrna HGNC:50011 PROVISIONAL 1603067 MIR609 microRNA 609 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q25.1 99719386 99719480 - 105978547 105978641 - 104218789 104218883 - 16381832;16505370 693194 ABBA01063087;AL139341;AMYH02023734;NR_030340 1688054 RH15646 MIRN609;hsa-mir-609 APPROVED ncrna HGNC:32865 PROVISIONAL 8550613 MIR6086 microRNA 6086 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 13590292 13590346 + 16381832;22142236 102466519 ABBA01071118;AC079383;AMYH02038896;NR_106734 hsa-mir-6086 ncrna HGNC:49986 PROVISIONAL 8551207 MIR6081 microRNA 6081 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 95065350 95065446 + 16381832;22282338 102466518 ABBA01043625;AL353768;AMYH02021264;NR_106729 hsa-mir-6081 ncrna HGNC:50151 PROVISIONAL 8549917 MIR6088 microRNA 6088 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 45436654 45436704 + 16381832;22142236 102464836 ABBA01040927;AC139353;AMYH02036199;NR_106736 hsa-mir-6088 ncrna ENSG00000275726 HGNC:50164 PROVISIONAL 1603066 MIR610 microRNA 610 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 p14.1 28224247 28224341 + 28078362 28078457 + 28056815 28056910 + 6480464 16381832;16505370;22189055 693195 AC090159;AMYH02024509;NR_030341 MIRN610;hsa-mir-610 APPROVED ncrna ENSG00000207874 HGNC:32866 612330 PROVISIONAL 8550967 MIR6087 microRNA 6087 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 109054542 109054590 + 16381832;22142236 102464835 ABBA01043543;AL928646;NR_106735 hsa-mir-6087 ncrna ENSG00000275110 HGNC:50045 PROVISIONAL 8551456 MIR6090 microRNA 6090 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 128522390 128522449 + 16381832;22142236 102466104 ABBA01023010;AMYH02025764;AP003397;NR_106738 hsa-mir-6090 ncrna ENSG00000276176 HGNC:50204 PROVISIONAL 8551156 MIR6127 microRNA 6127 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 22633258 22633366 - 16381832;22454130 102466615 ABBA01059851;AL158086;AMYH02000478;NR_106742 hsa-mir-6127 ncrna HGNC:50163 PROVISIONAL 8551217 MIR6125 microRNA 6125 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 62260359 62260454 + 16381832;22345437 102465133 ABBA01026638;AC117370;AMYH02026632;NR_106740 hsa-mir-6125 ncrna HGNC:49931 PROVISIONAL 8551025 MIR6126 microRNA 6126 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 3485381 3485469 - 16381832;22345437 102465134 ABBA01026740;AC004224;AMYH02031290;NR_106741 hsa-mir-6126 ncrna ENSG00000273776 HGNC:50099 PROVISIONAL 1603065 MIR611 microRNA 611 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q12.2 58895379 58895445 - 61559967 61560033 - 61792495 61792561 - 16381832;16505370;21829377 693196 ABBA01003206;AMYH02024883;AP002380;NR_030342 MIRN611;hsa-mir-611 APPROVED ncrna HGNC:32867 PROVISIONAL 1603064 MIR612 microRNA 612 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q13.1 62538217 62538316 + 65211929 65212028 + 65444458 65444557 + 6480464 16381832;16505370;23077621;23478189;24704424 693197 ABBA01024118;AMYH02024958;AP000769;NR_030343 1660643 G33121 MIRN612;hsa-mir-612 APPROVED ncrna ENSG00000273834 HGNC:32868 PROVISIONAL 8550899 MIR6124 microRNA 6124 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 12163683 12163767 + 16381832;22345437 102466906 ABBA01061138;AC079329;AMYH02024340;NR_106739 hsa-mir-6124 ncrna HGNC:50200 PROVISIONAL 8551227 MIR6128 microRNA 6128 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 56743873 56743981 + 16381832;22454130 102465135 ABBA01021463;AMYH02024835;AP001803;NR_106743 hsa-mir-6128 ncrna ENSG00000274770 HGNC:50109 PROVISIONAL 8551196 MIR6130 microRNA 6130 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 23079284 23079392 + 16381832;22454130 102466967 ABBA01057186;AMYH02037622;AP001116;NR_106746 hsa-mir-6130 ncrna ENSG00000275469 HGNC:50156 PROVISIONAL 8551327 MIR6132 microRNA 6132 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 117020211 117020319 + 16381832;22454130 102466616 ABBA01057803;AC106873;AMYH02016634;NR_106748 hsa-mir-6132 ncrna HGNC:50272 PROVISIONAL 8551292 MIR6131 microRNA 6131 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 10478037 10478145 + 16381832;22454130 102465138 ABBA01020601;AC092336;AMYH02010850;NR_106747 hsa-mir-6131 ncrna HGNC:49929 PROVISIONAL 2312878 MIR615 microRNA 615 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q13.13 54077351 54077446 + 54427734 54427829 + 54033950 54034045 + 6480464 16381832;16505370;17604727;21565892;22819824 693200 ABBA01008362;AC012531;AMYH02026529;NG_029818;NR_030753 1744017 GDB:384845 MIRN615;hsa-mir-615 APPROVED ncrna HGNC:32871 VALIDATED 1603063 MIR613 microRNA 613 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 p13.1 18066144 18066238 + 12917583 12917677 + 12764649 12764743 + 6480464 16381832;16505370;21310851;23496987;24751522 693198 ABBA01067849;AC007215;AMYH02026064;NR_030344 MIRN613;hsa-mir-613 APPROVED ncrna HGNC:32869 PROVISIONAL 8550871 MIR6129 microRNA 6129 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 49288346 49288454 - 16381832;22454130 102465137 ABBA01041198;AC004797;AMYH02033567;NR_106745 hsa-mir-6129 ncrna ENSG00000273500 HGNC:50220 PROVISIONAL 8550285 MIR6134 microRNA 6134 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 28495555 28495663 - 16381832;22454130 102465140 ABBA01072737;AC078988;AMYH02039083;NR_106750 hsa-mir-6134 ncrna ENSG00000277569 HGNC:49951 PROVISIONAL 8550520 MIR6133 microRNA 6133 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 133290881 133290988 + 16381832;22454130 102465139 ABBA01001100;AC083875;AMYH02016790;NR_106749 hsa-mir-6133 ncrna HGNC:50007 PROVISIONAL 1603062 MIR614 microRNA 614 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 p13.1 18217615 18217704 + 13068763 13068852 + 12915829 12915918 + 6480464 16381832;16505370 693199 ABBA01067857;AC007688;AMYH02026067;NR_030345 MIRN614;hsa-mir-614 APPROVED ncrna ENSG00000207817 HGNC:32870 PROVISIONAL 8551010 MIR6165 microRNA 6165 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 49510817 49510900 + 16381832;22558167 102465141 ABBA01041208;AC006487;AMYH02033576;NR_106751 hsa-mir-6165 ncrna HGNC:50197 PROVISIONAL 3516580 MIR620 microRNA 620 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 116215965 116216058 - 116586365 116586459 - 116148560 116148654 - 16381832;16505370 693205 ABBA01020001;AC130895;AMYH02027283;NR_030351 1746643 G64564 MIRN620;hsa-mir-620 APPROVED ncrna HGNC:32876 PROVISIONAL 1602932 MIR621 microRNA 621 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 q14.11 22442354 22442449 + 41384902 41384997 + 40810766 40810861 + 8554872 16381832;16505370 693206 ABBA01021288;AL161614;AMYH02027908;NR_030352 MIRN621;hsa-mir-621 APPROVED ncrna ENSG00000207652 HGNC:32877 PROVISIONAL 1602935 MIR617 microRNA 617 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q21.31 80892495 80892591 - 81226312 81226408 - 80832533 80832629 - 16381832;16505370 693202 ABBA01053490;AC025568;AMYH02026828;NR_030348 MIRN617;hsa-mir-617 APPROVED ncrna HGNC:32873 PROVISIONAL 1602931 MIR622 microRNA 622 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 q31.3 71728871 71728966 + 90883436 90883531 + 90231182 90231277 + 6480464 16381832;16505370;21528065;22016468;22219177 693207 ABBA01027249;AL354915;AMYH02028461;NR_030754 MIRN622;hsa-mir-622 APPROVED ncrna ENSG00000207858 HGNC:32878 PROVISIONAL 1602934 MIR618 microRNA 618 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q21.31 80995674 80995771 - 81329515 81329612 - 80935736 80935833 - 6480464 16381832;16505370;17604727 693203 ABBA01053490;AC068798;AMYH02026831;NR_030349 MIRN618;hsa-mir-618 APPROVED ncrna HGNC:32874 PROVISIONAL 1602930 MIR623 microRNA 623 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 q32.3 80851949 80852046 + 100008385 100008482 + 99356131 99356228 + 6480464 16381832;16505370 693208 ABBA01027123;AL136961;AMYH02028589;NR_030353 1782862 SHGC-145779 MIRN623;hsa-mir-623 APPROVED ncrna HGNC:32879 PROVISIONAL 1602936 MIR616 microRNA 616 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q13.3 57568779 57568875 - 57912946 57913042 - 57519163 57519259 - 6480464 16381832;16505370;17604727;21224345;23497787 693201 ABBA01026699;AC022506;AMYH02026586;NR_030346 MIRN616;hsa-mir-616 APPROVED ncrna ENSG00000208028 HGNC:32872 614489 PROVISIONAL 1602928 MIR625 microRNA 625 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q23.3 45992924 45993008 + 65937820 65937904 + 65471102 65471186 + 6480464 16381832;16505370;17604727;22617246;22675530;22677169;23506979;23861214;24508466 693210 AL355840;AMYH02029379;NR_030355 MIRN625;hsa-mir-625 APPROVED ncrna ENSG00000207781 HGNC:32881 PROVISIONAL 1602927 MIR626 microRNA 626 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q15.1 18751742 18751835 + 41983783 41983876 + 41691585 41691678 + 16381832;16505370 693211 ABBA01038392;AC073657;AMYH02030276;NR_030356 MIRN626;hsa-mir-626 APPROVED ncrna HGNC:32882 PROVISIONAL 1602924 MIR629 microRNA 629 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q23 47261117 47261174 - 70371711 70371807 - 70079372 70079468 - 6480464 16381832;16505370;17604727;22114071 693214 AC026583;AC068327;AMYH02030705;NR_030714 MIRN629;hsa-mir-629 APPROVED ncrna HGNC:32885 PROVISIONAL 1602929 MIR624 microRNA 624 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q12 11349336 11349432 - 31483852 31483948 - 31014646 31014742 - 6480464 16381832;16505370;17604727;22022480 693209 ABBA01061408;AL049830;AMYH02028946;NR_030354 MIRN624;hsa-mir-624 APPROVED ncrna HGNC:32880 PROVISIONAL 1602923 MIR630 microRNA 630 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q24.1 49764276 49764372 + 72879558 72879654 + 72587217 72587313 + 6480464 16381832;16505370;23675407;24909689 693215 ABBA01038725;AC100827;AMYH02030761;NR_030359 1646083;1850906;1856906;2148216 A004P07;RH47216;SHGC-34211;SHGC-36787 MIRN630;hsa-mir-630 APPROVED ncrna ENSG00000207690 HGNC:32886 PROVISIONAL 1602922 MIR631 microRNA 631 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q24.2 52572391 52572465 - 75645952 75646026 - 75353611 75353685 - 6480464;8554872 16381832;16505370;19138993;20732906 693216 ABBA01060522;AC068338;AMYH02030814;NR_030360 1646966 WI-12510 MIRN631;hsa-mir-631 APPROVED ncrna ENSG00000207636 HGNC:32887 PROVISIONAL 1602925 MIR628 microRNA 628 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q21.3 32553711 32553805 - 55665138 55665232 - 55372940 55373034 - 16381832;16505370;17604727;24116168;24477576 693213 ABBA01039026;AC018926;AMYH02030485;NR_030358 MIRN628;hsa-mir-628 APPROVED ncrna HGNC:32884 PROVISIONAL 1602933 MIR619 microRNA 619 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 12 12 q24.11 11640689 11656302 - 109230684 109230782 - 108836908 108837006 - 16381832;16505370;23226537 693204 ABBA01053124;AC087893;AMYH02027156;NR_030350 1656154;1787396;1803002;1808510;1817074;1817076;1818080;1820214;1829454;1831464;1838146;2036346;2036348;2036350;2036352;2036354;2036356;2036360;2036362;2036364;2036366;2036368;2036370;2036372;2036374;2036378;2036380;2036382;2036384;2036386;2036390;2036392;2036394;2036406;2036408;2036416;2036418;2036420;2036422;2036424;2036426;2036428;2036432;2036434;2036436;2036444;2036448;2036450;2036452;2036454;2036456;2036458;2036460;2036462;2036466;2036468;2036470;2036800;2036802;2036804;2036806;2036808;2036810;2182107;5494181 DXS8373;ECD02392;ECD05237;ECD09586;ECD09587;ECD10096;ECD11181;ECD15858;ECD16869;ECD20245;G18195;REN89182;REN89183;REN89184;REN89185;REN89186;REN89187;REN89189;REN89190;REN89191;REN89192;REN89193;REN89194;REN89195;REN89196;REN89198;REN89199;REN89200;REN89201;REN89202;REN89204;REN89205;REN89206;REN89212;REN89213;REN89217;REN89218;REN89219;REN89220;REN89221;REN89222;REN89223;REN89225;REN89226;REN89227;REN89231;REN89233;REN89234;REN89235;REN89236;REN89237;REN89238;REN89239;REN89240;REN89242;REN89243;REN89244;REN89409;REN89410;REN89412;REN89413;REN89414;REN89415;SHGC-172421;UniSTS:99378 MIRN619;hsa-mir-619 APPROVED ncrna HGNC:32875 PROVISIONAL 1602926 MIR627 microRNA 627 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q15.1 19259467 19259563 - 42491768 42491864 - 42199570 42199666 - 6480464 16381832;16505370;17604727;23226537;23619147 693212 AC036103;AMYH02030282;NR_030357 MIRN627;hsa-mir-627 APPROVED ncrna HGNC:32883 PROVISIONAL 1602920 MIR633 microRNA 633 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q23.2 55409803 55409900 + 61021576 61021673 + 62944215 62944312 + 6480464 16381832;16505370;21518471;22249270;23077021;23436656 693218 ABBA01035336;AC005972;AMYH02033769;NR_030363 1724681 RH121345 MIRN633;hsa-mir-633 APPROVED ncrna ENSG00000207552 HGNC:32889 PROVISIONAL 1602919 MIR634 microRNA 634 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q24.2 61355884 61355980 + 64783190 64783286 + 66787072 66787168 + 6480464 16381832;16505370 693219 ABBA01029021;AC005918;AMYH02033826;NR_030364 MIRN634;hsa-mir-634 APPROVED ncrna HGNC:32890 PROVISIONAL 1602921 MIR632 microRNA 632 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q11.2 27587344 27587437 + 30677128 30677221 + 32350109 32350202 + 6480464 16381832;16505370;22710984 693217 ABBA01000712;AC005899;AMYH02033315;NR_030362 1701474;1734468 D17S1432E;RH104369 MIRN632;hsa-mir-632 APPROVED ncrna ENSG00000207928 HGNC:32888 PROVISIONAL 2312877 MIR638 microRNA 638 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.2 10723926 10724025 + 10829080 10829179 + 10718404 10718503 + 6480464 16381832;16505370;22048643;22295894;23155245;23554459;23936320;24623314;24842609 693223 ABBA01029900;AC011475;AMYH02035502;NR_030368 MIRN638;hsa-mir-638 APPROVED ncrna HGNC:32894 PROVISIONAL 1602918 MIR635 microRNA 635 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q24.2 62992158 62992255 - 66420592 66420689 - 68424451 68424548 - 6480464 16381832;16505370 693220 ABBA01028960;AC007780;AMYH02033871;NG_007093;NR_030365 2146667 RH16580 MIRN635;hsa-mir-635 APPROVED ncrna HGNC:32891 PROVISIONAL 1602914 MIR640 microRNA 640 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.11 19449939 19450034 + 19545872 19545967 + 19435063 19435158 + 16381832;16505370;23974872 693225 ABBA01051332;AC092067;AMYH02035757;NR_030370 MIRN640;hsa-mir-640 APPROVED ncrna HGNC:32896 PROVISIONAL 1602915 MIR639 microRNA 639 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.12 14534508 14534605 + 14640355 14640452 + 14529543 14529640 + 6480464 16381832;16505370 693224 ABBA01029663;AC009004;AMYH02035621;NG_028336;NR_030369 MIRN639;hsa-mir-639 APPROVED ncrna ENSG00000207707 HGNC:32895 VALIDATED 1602916 MIR637 microRNA 637 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.3 3898553 3898651 - 3961412 3961510 - 3961414 3961512 - 8554872 16381832;16505370;21809363;21880893;23362149 693222 ABBA01002860;AC011488;AMYH02035267;NR_030367 MIRN637;hsa-mir-637 APPROVED ncrna HGNC:32893 PROVISIONAL 4888821 MIR642B microRNA 642b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 46178190 46178266 - 45674932 45675008 - 8554872 16381832;20459774 100500845 AC006132;AMYH02036207;NR_037512 APPROVED ncrna HGNC:38902 PROVISIONAL 1602912 MIR642A microRNA 642a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.32 42984308 42984404 + 46178186 46178282 + 45674928 45675024 + 8554872 16381832;16505370;17604727;21767385;23697367 693227 AC006132;AMYH02036207;NR_030372 MIR642;MIRN642;hsa-mir-642;hsa-mir-642a APPROVED ncrna HGNC:32898 PROVISIONAL 1602913 MIR641 microRNA 641 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.2 37587906 37588004 - 40788450 40788548 - 40282543 40282641 - 6480464 16381832;16505370 693226 ABBA01040748;AC118344;AMYH02036108;NR_030371 MIRN641;hsa-mir-641 APPROVED ncrna ENSG00000207631 HGNC:32897 PROVISIONAL 2312876 MIR644A microRNA 644a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q11.22 29803595 29803688 + 33054130 33054223 + 34466325 34466418 + 6480464 16381832;16505370;23091630 693229 ABBA01019192;AL109923;AMYH02036979;NR_030374 MIR644;MIRN644;hsa-mir-644;hsa-mir-644a APPROVED ncrna HGNC:32900 PROVISIONAL 1602917 MIR636 microRNA 636 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q25.1 71324905 71325003 - 74732532 74732630 - 76736450 76736548 - 6480464;8554872 16381832;16505370;17604727;23306701;23776548 693221 ABBA01028731;AC005837;AMYH02034021;NG_032905;NR_030366 2167324 D4S2570E MIRN636;hsa-mir-636 APPROVED ncrna HGNC:32892 VALIDATED 1602911 MIR643 microRNA 643 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.41 49834606 49834702 + 52785050 52785146 + 52281797 52281893 + 16381832;16505370 693228 ABBA01068259;AC010320;AMYH02036398;NR_030373 MIRN643;hsa-mir-643 APPROVED ncrna HGNC:32899 PROVISIONAL 1602909 MIR646 microRNA 646 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 55624184 55624277 + 58883532 58883625 + 60308474 60308567 + 6480464 16381832;16505370;20306291 693231 ABBA01005951;AL035070;AMYH02037389;NR_030376 MIRN646;hsa-mir-646 APPROVED ncrna ENSG00000207802 HGNC:32902 PROVISIONAL 1602910 MIR645 microRNA 645 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.13 45906611 45906704 + 49202323 49202416 + 50585786 50585879 + 6480464;8554872 16381832;16505370 693230 ABBA01052781;AL133230;AMYH02037237;NG_034040;NR_030375 1850380 G27961 MIRN645;hsa-mir-645 APPROVED ncrna ENSG00000208018 HGNC:32901 PROVISIONAL 1602908 MIR647 microRNA 647 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 59257844 59257939 - 62573984 62574079 - 63942631 63942726 - 6480464 16381832;16505370;23535732 693232 ABBA01021433;AL118506;AMYH02037476;NR_030377 MIRN647;hsa-mir-647 APPROVED ncrna HGNC:32903 PROVISIONAL 1603345 MIR646HG MIR646 host gene (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 20 20 20 q13.33 55634838 55635269 + 58713548 58897314 + 60138492 60322256 + 8554872 14702039;23028342 284757 ABBA01005950;ABBA01005951;ABBA01005952;ABBA01005953;AK092805;AK128288;AL035070;AL121918;AL132822;AMYH02037388;AMYH02037389;HG511501;KF456974;KF456975;KF456976;KF456977;KF510473;KF510475;NR_046099 Hs.737441 FLJ46426 APPROVED ncrna ENSG00000228340 HGNC:27659 17342 VALIDATED 1602907 MIR648 microRNA 648 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q11.21 2083313 2083406 - 18463634 18463727 - 17980868 17980961 - 16381832;16505370 693233 ABBA01001426;AC016027;AMYH02038019;NR_030378 MIRN648;hsa-mir-648 APPROVED ncrna ENSG00000207780 HGNC:32904 PROVISIONAL 8551083 MIR6500 microRNA 6500 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 51060018 51060103 + 16381832;21807764 102466656 ABBA01074815;AL590455;AMYH02000995;NR_106754 hsa-mir-6500 ncrna HGNC:49935 PROVISIONAL 8549818 MIR6501 microRNA 6501 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 33550662 33550728 + 16381832;21807764 102465248 ABBA01057351;AMYH02037740;AP000303;NR_106756 hsa-mir-6501 ncrna HGNC:50033 PROVISIONAL 1602013 MIR650 microRNA 650 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 q11.22 23165270 23165365 + 22822776 22822871 + 6480464 16381832;16505370;20381459;21352815;22234685;22767438;23991130;24062138 723778 ABBA01055095;AC245028;D87021;NG_000002;NR_030755 MIRN650;hsa-mir-650 APPROVED ncrna ENSG00000207836 HGNC:32906 615379 PROVISIONAL 8550431 MIR6502 microRNA 6502 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 66251082 66251157 + 16381832;21807764 102465249 ABBA01026575;AC078889;AMYH02026679;NR_106757 hsa-mir-6502 ncrna ENSG00000275058 HGNC:50062 PROVISIONAL 8551547 MIR6505 microRNA 6505 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 48132797 48132867 + 16381832;21807764 102466657 ABBA01031475;AC004801;AMYH02026419;NR_106760 hsa-mir-6505 ncrna HGNC:50104 PROVISIONAL 8550594 MIR6504 microRNA 6504 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 81611348 81611408 + 16381832;21807764 102465251 AC092135;AMYH02032511;NR_106759 hsa-mir-6504 ncrna HGNC:49976 PROVISIONAL 8550948 MIR6503 microRNA 6503 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 60209071 60209156 - 16381832;21807764 102465250 AMYH02024871;AP003970;NR_106758 hsa-mir-6503 ncrna ENSG00000275344 HGNC:49968 PROVISIONAL 8551302 MIR6499 microRNA 6499 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 151522087 151522148 - 16381832;21807764 102465246 ABBA01026262;AC011337;AMYH02012471;NR_106752 hsa-mir-6499 ncrna HGNC:49962 PROVISIONAL 8550488 MIR6507 microRNA 6507 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 98924499 98924568 - 16381832;21807764 102465253 ABBA01063257;AL391260;AMYH02023628;NR_106762 hsa-mir-6507 ncrna HGNC:50199 PROVISIONAL 8550535 MIR6508 microRNA 6508 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 39447010 39447069 + 16381832;21807764 102466972 ABBA01009337;AF121781;AMYH02037834;NR_106763 hsa-mir-6508 ncrna ENSG00000275523 HGNC:50217 PROVISIONAL 8550244 MIR6506 microRNA 6506 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 15611030 15611095 - 16381832;21807764 102465252 ABBA01048899;AC026401;AC243742;NR_106761 hsa-mir-6506 ncrna HGNC:50158 PROVISIONAL 8551121 MIR6510 microRNA 6510 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 41517164 41517217 - 16381832;21807764 102466658 ABBA01031810;AC019349;AMYH02033410;NR_106765 hsa-mir-6510 ncrna HGNC:50101 PROVISIONAL 1602906 MIR649 microRNA 649 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 4879767 4879863 - 21388465 21388561 - 21034176 21034272 - 16381832;16505370 693234 ABBA01015432;AC002472;AMYH02038086;NR_030379 MIRN649;hsa-mir-649 APPROVED ncrna ENSG00000207575 HGNC:32905 PROVISIONAL 8549987 MIR6513 microRNA 6513 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 218280125 218280188 - 16381832;21807764 102465256 ABBA01023875;AC021016;AMYH02005786;NR_106768 hsa-mir-6513 ncrna HGNC:50247 PROVISIONAL 1602012 MIR651 microRNA 651 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p22.31 12270827 12270923 + 8095006 8095102 + 8126965 8127061 + 16381832;16505370;17604727;23034410 723779 ABBA01029324;AC097626;AMYH02038818;NR_030380 MIRN651;hsa-mir-651 APPROVED ncrna ENSG00000207628 HGNC:32907 PROVISIONAL 8551146 MIR6514 microRNA 6514 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 62792702 62792771 - 16381832;21807764 102465257 ABBA01003246;AMYH02024899;AP001160;NR_106769 hsa-mir-6514 ncrna HGNC:50147 PROVISIONAL 8550060 MIR6515 microRNA 6515 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 12940484 12940540 + 16381832;21807764;22313525 102466659 ABBA01029763;AC092069;AMYH02035560;NR_106770 hsa-mir-6515 ncrna HGNC:50227 PROVISIONAL 8550652 MIR6512 microRNA 6512 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 177313806 177313882 - 16381832;21807764 102465255 ABBA01062232;AC019080;AMYH02005314;NR_106767 hsa-mir-6512 ncrna ENSG00000278418 HGNC:50259 PROVISIONAL 8551063 MIR6511B1 microRNA 6511b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 2106669 2106753 - 16381832;22313525 102465429 ABBA01030274;AC009065;AMYH02031244;NR_106775 MIR6511B-1;hsa-mir-6511b-1 ncrna HGNC:50228 PROVISIONAL 8550730 MIR6509 microRNA 6509 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 135206994 135207078 - 16381832;21807764;22313525 102465254 AC009542;AMYH02016814;NR_106764 hsa-mir-6509 ncrna HGNC:50207 PROVISIONAL 8550905 MIR6511A2 microRNA 6511a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16324588 16324654 + 16381832;21807764;22313525 102466812 AC138969;AC244489;NR_106969 MIR6511A-2;hsa-mir-6511a-2 ncrna ENSG00000278221 HGNC:50150 PROVISIONAL 1601677 MIR652 microRNA 652 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q23 109778191 109778288 + 109298557 109298654 + 110055329 110055426 + 6480464 16381832;16505370;17604727;22412969 724022 ABBA01043437;AL360224;AMYH02040227;NR_030381 MIRN652;hsa-mir-652 APPROVED ncrna HGNC:32908 PROVISIONAL 8550962 MIR6516 microRNA 6516 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 77089417 77089497 + 16381832;23226537 102466864 ABBA01028720;AC015815;AMYH02034028;NR_106997 hsa-mir-6516 ncrna HGNC:50233 PROVISIONAL 1601676 MIR653 microRNA 653 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q21.3 87816577 87816672 - 93112072 93112167 - 93482760 93482855 - 6480464 16381832;16505370;17604727;23034410 724023 ABBA01045790;AC003078;AMYH02016279;CH236949;NR_030388 MIRN653;hsa-mir-653 APPROVED ncrna HGNC:32909 PROVISIONAL 1601673 MIR656 microRNA 656 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81589123 81589200 + 101533061 101533138 + 101066724 101066801 + 6480464 16381832;16505370;22219177;23034410 724026 ABBA01048514;AL132709;AMYH02029867;NR_030392 MIRN656;hsa-mir-656 APPROVED ncrna ENSG00000207959 HGNC:32912 PROVISIONAL 1601675 MIR654 microRNA 654 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81562613 81562693 + 101506556 101506636 + 101040219 101040299 + 6480464 16381832;16505370;17604727 724024 ABBA01048514;AL132709;AMYH02029867;NR_030390 MIRN654;hsa-mir-654 APPROVED ncrna ENSG00000207934 HGNC:32910 PROVISIONAL 1601674 MIR655 microRNA 655 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81571948 81572044 + 101515887 101515983 + 101049550 101049646 + 16381832;16505370;17604727;23034410;23690952;24314023 724025 ABBA01048514;AL132709;AMYH02029867;NR_030391 MIRN655;hsa-mir-655 APPROVED ncrna ENSG00000207646 HGNC:32911 PROVISIONAL 1601672 MIR657 microRNA 657 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 q25.3 79099076 79099173 - 81125276 81125373 - 6480464 16381832;16505370;18602895;23175432;24238754 724027 ABBA01032125;AC115099;AMYH02034118;NG_029981;NR_030394 MIRN657;hsa-mir-657 APPROVED ncrna HGNC:32913 VALIDATED 1601671 MIR658 microRNA 658 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q13.1 22042053 22042152 - 38240279 38240378 - 37844272 37844371 - 6480464 16381832;16505370 724028 ABBA01055490;AMYH02038342;NR_030395;Z97630 MIRN658;hsa-mir-658 APPROVED ncrna HGNC:32914 PROVISIONAL 1601670 MIR659 microRNA 659 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q13.1 22045450 22045546 - 38243685 38243781 - 37847678 37847774 - 6480464 16381832;16505370;18723524 724029 ABBA01055490;AMYH02038342;NR_030396;Z97630 MIRN659;hsa-mir-659 APPROVED ncrna HGNC:32915 613556 PROVISIONAL 1601669 MIR660 microRNA 660 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53847076 53847172 + 49777849 49777945 + 50013241 50013337 + 6480464 16381832;16505370;17604727 724030 ABBA01063309;AC231645;AF222686;AMYH02039357;NG_007159;NR_030397 MIRN660;hsa-mir-660 APPROVED ncrna HGNC:32916 PROVISIONAL 8662642 MIR663AHG MIR663A host gene (non-protein coding) 20 20 20 p11.1 26184138 26205928 - 26167655 26189869 - 26187019 26209233 - 12477932;24932682 284801 ABBA01005168;AL121904;AMYH02036888;AMYH02036889;BC036201;BC036544;NR_040095 Hs.370699 ncrna ENSG00000227195 HGNC:27662 VALIDATED 1601668 MIR661 microRNA 661 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q24.3 141333421 141333509 - 145019359 145019447 - 143945191 143945279 - 16381832;16505370;19584269;20543867;23969696 724031 ABBA01005235;AC109322;AMYH02018949;NR_030383 MIRN661;hsa-mir-661 APPROVED ncrna HGNC:32917 613716 PROVISIONAL 3497334 MIR663B microRNA 663b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 126733887 126734001 - 133014539 133014653 - 132256966 132257080 - 6480464 16381832;17989710 100313824 ABBA01028222;AC097532;AMYH02004814;NR_031608 MIRN663B APPROVED ncrna ENSG00000221288 HGNC:35270 PROVISIONAL 2312910 MIR664A microRNA 664a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 193593091 193593172 - 220373880 220373961 - 220200538 220200619 - 16381832;18285502;24116168 100302234 ABBA01048081;AL445435;AMYH02002730;NG_015837;NR_031705 MIR664;MIRN664;hsa-mir-664;hsa-mir-664a APPROVED ncrna HGNC:35370 PROVISIONAL 6483955 MIR664B microRNA 664b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 153996871 153996931 + 154768596 154768656 + 16381832;21911355 100847052 ABBA01029081;AC109993;AMYH02040856;NR_049842 MIR644B;hsa-mir-664b APPROVED ncrna HGNC:43501 PROVISIONAL 2290240 MIR665 microRNA 665 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81395190 81395261 + 101341370 101341441 + 100875033 100875104 + 6480464 16381832;16954537;17604727 100126315 ABBA01048517;AL117190;AMYH02029863;NR_030617 MIRN665;hsa-mir-665 APPROVED ncrna HGNC:33662 PROVISIONAL 2290266 MIR668 microRNA 668 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81577656 81577721 + 101521595 101521660 + 101055258 101055323 + 6480464 16381832;16954537;23034410 768214 ABBA01048514;AL132709;AMYH02029867;NR_030408 MIRN668;hsa-mir-668 APPROVED ncrna HGNC:33135 PROVISIONAL 3516312 MIR670 microRNA 670 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 43728153 43728250 + 43581206 43581303 + 43559656 43559753 + 16381832;16954537;18215311;23034410 100313777 ABBA01060778;AC023085;AMYH02024675;NR_031577 hsa-mir-670 APPROVED ncrna ENSG00000211568 HGNC:37304 PROVISIONAL 2290267 MIR671 microRNA 671 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q36.1 145492866 145492983 + 150935507 150935624 + 151238421 151238538 + 6480464;8554872 16381832;16954537;17604727;21649547;21964070;22268729 768213 ABBA01035160;AC021097;AMYH02017071;NG_029468;NR_030407 2107009;2149938;2181139 CSGlcA-T__4645.2;G33154;STS-R51978 MIRN671;hsa-mir-671 APPROVED ncrna HGNC:33134 615245 VALIDATED 8550754 MIR6715A microRNA 6715a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 112299612 112299690 + 16381832;22313525 102466189 ABBA01063006;AL391986;AMYH02023815;NR_106771 hsa-mir-6715a ncrna HGNC:49996 PROVISIONAL 8550249 MIR6716 microRNA 6716 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 118644000 118644079 + 16381832;22313525 102466719 ABBA01039701;AMYH02025646;AP000941;AP002954;NR_106773 hsa-mir-6716 ncrna HGNC:50048 PROVISIONAL 1601666 MIR663A microRNA 663a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 p11.1 26205305 26205397 - 26188822 26188914 - 26208186 26208278 - 6480464 16381832;16505370;20514450;21378144;21518431;22042811;22393947;22776647;23155245;23870168;23953123;24014830;24243035 724033 ABBA01005168;AL121904;AMYH02036888;NR_030386 MIR663;MIRN663;hsa-mir-663;hsa-mir-663a APPROVED ncrna ENSG00000273684 HGNC:32919 PROVISIONAL 8550952 MIR6718 microRNA 6718 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 3885353 3885432 + 16381832;22313525 102465430 ABBA01049866;AMYH02034233;AP005204;NR_106776 hsa-mir-6718 ncrna ENSG00000275518 HGNC:50195 PROVISIONAL 7379655 MIR670HG MIR670 host gene (non-protein coding) 11 11 11 43737803 43738892 + 43578476 43591947 + 43556926 43570397 + 100507261 ABBA01060778;AC023085;AMYH02024675;XR_109044;XR_111178;XR_171892;XR_242871;XR_242872;XR_247629;XR_247630;XR_252881;XR_252882 ncrna ENSG00000235661 HGNC:49204 MODEL 8550856 MIR6720 microRNA 6720 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 1390314 1390411 - 16381832;22313525;23034410 102466720 ABBA01048651;AL034346;AMYH02012967;NR_106778 hsa-mir-6720 ncrna ENSG00000275859 HGNC:50032 PROVISIONAL 8550763 MIR6719 microRNA 6719 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 39829716 39829802 - 16381832;22313525 102465974 ABBA01040734;AC005393;AC244229;NG_034145;NR_106777 hsa-mir-6719 ncrna HGNC:50012 PROVISIONAL 8550681 MIR6721 microRNA 6721 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 32170030 32170116 - 16381832;22313525 102466190 ABBA01038108;AL662828;AL662884;AL845464;AMYH02013469;BX284686;BX927239;CR812478;CR933878;NR_106779 hsa-mir-6721 ncrna HGNC:50049 PROVISIONAL 8550451 MIR6717 microRNA 6717 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 21023314 21023386 - 16381832;22313525 102465428 ABBA01061238;AL161668;AMYH02028827;NR_106774 hsa-mir-6717 ncrna HGNC:50000 PROVISIONAL 8551191 MIR6722 microRNA 6722 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 136746893 136746970 - 16381832;22313525 102465431 ABBA01022719;AL355987;AMYH02021909;NR_106780 hsa-mir-6722 ncrna HGNC:49927 PROVISIONAL 8550174 MIR6726 microRNA 6726 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1296110 1296170 - 16381832;22955976 102465434 ABBA01016029;AL162741;AMYH02000090;NR_106784 hsa-mir-6726 ncrna HGNC:50009 PROVISIONAL 8551151 MIR6728 microRNA 6728 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 8866502 8866590 - 16381832;22955976 102465436 ABBA01035524;AL139415;AMYH02000222;NR_106786 hsa-mir-6728 ncrna HGNC:49961 PROVISIONAL 8550264 MIR6730 microRNA 6730 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 12578957 12579023 - 16381832;22955976 102466722 ABBA01003090;AC254633;AL645761;AMYH02000308;NR_106788 hsa-mir-6730 ncrna HGNC:50222 PROVISIONAL 8551111 MIR6715B microRNA 6715b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 112299612 112299688 - 16381832;22313525 102465427 ABBA01063006;AL391986;AMYH02023815;NR_106772 hsa-mir-6715b ncrna HGNC:50249 PROVISIONAL 8551648 MIR6729 microRNA 6729 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 12029158 12029222 + 16381832;22955976 102466982 ABBA01003070;AL096840;AMYH02000305;NR_106787 hsa-mir-6729 ncrna HGNC:50103 PROVISIONAL 1601667 MIR662 microRNA 662 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.3 1020070 1020164 + 820183 820277 + 770183 770277 + 16381832;16505370 724032 ABBA01030345;AL031258;AMYH02031207;NR_030384 1657293 RH71325 MIRN662;hsa-mir-662 APPROVED ncrna ENSG00000207579 HGNC:32918 PROVISIONAL 8551058 MIR6727 microRNA 6727 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1312502 1312566 - 16381832;22955976;23128233 102465435 ABBA01016030;AL139287;AMYH02000092;NR_106785 hsa-mir-6727 ncrna HGNC:50171 PROVISIONAL 8550270 MIR6732 microRNA 6732 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 37480230 37480289 + 16381832;22955976 102465438 ABBA01023277;AL034379;AMYH02000797;NR_106790 hsa-mir-6732 ncrna HGNC:50066 PROVISIONAL 8550598 MIR6735 microRNA 6735 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 43448539 43448611 + 16381832;22955976 102465440 ABBA01050956;AL583862;AMYH02000901;NR_106793 hsa-mir-6735 ncrna HGNC:50126 PROVISIONAL 8550768 MIR6734 microRNA 6734 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 43364648 43364715 - 16381832;22955976 102466723 ABBA01050956;AL139289;AMYH02000898;NR_106792 hsa-mir-6734 ncrna HGNC:50219 PROVISIONAL 8550608 MIR6731 microRNA 6731 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 24919345 24919416 - 16381832;22955976 102465437 ABBA01059922;AL023096;AMYH02000534;NR_106789 hsa-mir-6731 ncrna HGNC:50036 PROVISIONAL 8550315 MIR6736 microRNA 6736 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 145850587 145850645 - 16381832;22955976 102466191 ABBA01005742;AC239808;AL160282;NR_106794 hsa-mir-6736 ncrna HGNC:50072 PROVISIONAL 8550971 MIR6737 microRNA 6737 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 153962351 153962420 - 16381832;22955976 102465441 ABBA01049459;AL358472;AMYH02001912;NR_106795 hsa-mir-6737 ncrna HGNC:50273 PROVISIONAL 8550734 MIR6733 microRNA 6733 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 43171652 43171712 - 16381832;22955976 102465439 ABBA01050962;AL139138;AMYH02000895;NR_106791 hsa-mir-6733 ncrna HGNC:50239 PROVISIONAL 8550007 MIR6741 microRNA 6741 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 225922080 225922142 - 16381832;22955976 102466270 ABBA01009662;AL117348;AMYH02002798;NR_106799 hsa-mir-6741 ncrna HGNC:50004 PROVISIONAL 8550179 MIR6740 microRNA 6740 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 202003124 202003236 + 16381832;22955976 102465443 ABBA01027521;AC099676;AMYH02002487;NR_106798 hsa-mir-6740 ncrna HGNC:50082 PROVISIONAL 8551633 MIR6723 microRNA 6723 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 632325 632413 - 16381832;22313525 102465432 ABBA01003011;AC114498;AMYH02000059;NR_106781 hsa-mir-6723 ncrna ENSG00000278791 HGNC:50152 PROVISIONAL 8551403 MIR6743 microRNA 6743 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 209336 209406 + 16381832;22955976 102465445 ABBA01011167;AC069287;AMYH02024127;NR_106801 hsa-mir-6743 ncrna HGNC:50008 PROVISIONAL 8550219 MIR6742 microRNA 6742 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 228397048 228397109 - 16381832;22955976 102465444 ABBA01005836;AL670729;AMYH02002844;NR_106800 hsa-mir-6742 ncrna HGNC:50090 PROVISIONAL 8549992 MIR6747 microRNA 6747 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 62567011 62567071 - 16381832;22955976 102465447 ABBA01003228;AMYH02024893;AP002990;NR_106805 hsa-mir-6747 ncrna HGNC:50027 PROVISIONAL 8551317 MIR6744 microRNA 6744 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 1256605 1256670 + 16381832;22955976 102466725 ABBA01012136;AC061979;AMYH02024164;NR_106802 hsa-mir-6744 ncrna HGNC:50051 PROVISIONAL 8551035 MIR6738 microRNA 6738 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 155951273 155951336 - 16381832;22955976 102465442 ABBA01016680;AL355388;AMYH02001956;NR_106796 hsa-mir-6738 ncrna HGNC:49939 PROVISIONAL 8551237 MIR6746 microRNA 6746 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 61878216 61878278 - 16381832;22955976 102465446 ABBA01003207;AMYH02024884;AP006260;NR_106804 hsa-mir-6746 ncrna HGNC:49925 PROVISIONAL 8550079 MIR6749 microRNA 6749 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 64902387 64902455 - 16381832;22955976 102466727 ABBA01024139;AMYH02024946;AP001187;NR_106807 hsa-mir-6749 ncrna HGNC:50087 PROVISIONAL 8549897 MIR6750 microRNA 6750 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 64898363 64898437 - 16381832;22955976 102466192 ABBA01024139;AMYH02024946;AP001187;NR_106808 hsa-mir-6750 ncrna HGNC:49965 PROVISIONAL 8550846 MIR6751 microRNA 6751 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 65129916 65129978 - 16381832;22955976 102465449 ABBA01024134;AMYH02024953;AP003068;NR_106809 hsa-mir-6751 ncrna HGNC:49983 PROVISIONAL 8551098 MIR6753 microRNA 6753 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 68044794 68044957 + 16381832;22955976 102465451 ABBA01024019;AMYH02025001;AP002807;NR_106811 hsa-mir-6753 ncrna HGNC:50255 PROVISIONAL 8550109 MIR6748 microRNA 6748 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 62789815 62789885 + 16381832;22955976 102465448 ABBA01003246;AMYH02024899;AP001160;NR_106806 hsa-mir-6748 ncrna HGNC:50141 PROVISIONAL 8551489 MIR6745 microRNA 6745 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 47179611 47179737 - 16381832;22955976 102466726 ABBA01060721;AC090589;AMYH02024725;NR_106803 hsa-mir-6745 ncrna HGNC:50106 PROVISIONAL 8551176 MIR6754 microRNA 6754 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 71473503 71473568 + 16381832;22955976 102466728 ABBA01017551;AMYH02025067;AP000867;NR_106812 hsa-mir-6754 ncrna HGNC:50203 PROVISIONAL 8550204 MIR6755 microRNA 6755 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 86278333 86278398 + 16381832;22955976 102465452 ABBA01017325;AMYH02025229;AP003084;NR_106813 hsa-mir-6755 ncrna HGNC:50224 PROVISIONAL 8550690 MIR6757 microRNA 6757 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 53056944 53057012 + 16381832;22955976 102466193 ABBA01008313;AC068888;AMYH02026511;NR_106815 hsa-mir-6757 ncrna HGNC:50160 PROVISIONAL 8551682 MIR6756 microRNA 6756 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 119312950 119313012 - 16381832;22955976 102465453 ABBA01039674;AMYH02025665;AP002956;NR_106814 hsa-mir-6756 ncrna HGNC:49974 PROVISIONAL 8551282 MIR6758 microRNA 6758 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 57512688 57512750 + 16381832;22955976 102465454 ABBA01026700;AC022506;AMYH02026586;NG_034077;NR_106816 hsa-mir-6758 ncrna HGNC:50038 PROVISIONAL 8550234 MIR6759 microRNA 6759 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 57748618 57748682 - 16381832;22955976 102466729 ABBA01026694;AC025165;AMYH02026593;NR_106817 hsa-mir-6759 ncrna HGNC:50063 PROVISIONAL 2290195 MIR675 microRNA 675 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 p15.5 2057119 2057191 - 2017989 2018061 - 1996759 1996831 - 6480464 16381832;17237358;18402656;19926638;20529846;21471143;22527881;22832245;23725790;23754477;23864307;24335901;24388988;24939300 100033819 ABBA01012169;AC051649;AMYH02024185;NR_030533 1667082;1794252;1798828;1804702;2090442;2090444;2090446;2090448;2090450;2090452;2090454;2090456;2090458;2111942;2216610;7184789;7185918 D11S4727;D11S813E;ECD00254;ECD03283;H19;PMC310880P1;REN116498;REN116499;REN116500;REN116501;REN116502;REN116503;REN116504;REN116505;REN116506;stSG548622 MIRN675;hsa-mir-675 APPROVED ncrna HGNC:33351 615509 PROVISIONAL 8551667 MIR6752 microRNA 6752 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 67490245 67490315 + 16381832;22955976 102465450 ABBA01024030;AMYH02024997;AP001184;NR_106810 hsa-mir-6752 ncrna HGNC:50020 PROVISIONAL 8550002 MIR6760 microRNA 6760 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 111304142 111304209 + 16381832;22955976 102465455 ABBA01019882;AC002979;AMYH02027204;NR_106818 hsa-mir-6760 ncrna HGNC:49955 PROVISIONAL 8550416 MIR6761 microRNA 6761 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 111799834 111799905 + 16381832;22955976 102465456 ABBA01019911;AC003029;AMYH02027212;NR_106819 hsa-mir-6761 ncrna HGNC:49949 PROVISIONAL 8550744 MIR6762 microRNA 6762 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 113291523 113291608 + 16381832;22955976 102465457 ABBA01019952;AC010178;AMYH02027239;NR_106820 hsa-mir-6762 ncrna HGNC:50168 PROVISIONAL 4888781 MIR676 microRNA 676 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 69242707 69242773 + 70022857 70022923 + 6480464 16381832;20224791;20498841;22454130 100500887 AL158141;AMYH02039653;NR_037494 hsa-mir-676 APPROVED ncrna HGNC:38880 PROVISIONAL 8550876 MIR6739 microRNA 6739 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 201863373 201863447 + 16381832;22955976 102466724 ABBA01027523;AL645504;AMYH02002483;NR_106797 hsa-mir-6739 ncrna HGNC:50165 PROVISIONAL 8550725 MIR6763 microRNA 6763 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 132581997 132582061 + 16381832;22955976 102465975 ABBA01012384;AC131212;AMYH02027590;NR_106821 hsa-mir-6763 ncrna HGNC:50139 PROVISIONAL 8551638 MIR6768 microRNA 6768 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 2463967 2464038 + 16381832;22955976 102465460 ABBA01030256;AC106820;AMYH02031252;NR_106826 hsa-mir-6768 ncrna HGNC:50264 PROVISIONAL 8550540 MIR6769A microRNA 6769a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 4671318 4671390 + 16381832;22955976 102466731 ABBA01026783;AC023830;AMYH02031327;NR_106827 hsa-mir-6769a ncrna HGNC:50079 PROVISIONAL 8550851 MIR6769B microRNA 6769b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 206474803 206474864 + 16381832;22955976 102466202 ABBA01010190;AC244034;AL354681;NR_106919 hsa-mir-6769b ncrna HGNC:50016 PROVISIONAL 8549932 MIR6765 microRNA 6765 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 105150778 105150864 - 16381832;22955976 102465458 ABBA01008860;AL512356;AMYH02029961;NR_106823 hsa-mir-6765 ncrna HGNC:50030 PROVISIONAL 8551658 MIR6764 microRNA 6764 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 100277357 100277417 + 16381832;22955976 102466730 ABBA01048531;AL157871;AMYH02029851;NR_106822 hsa-mir-6764 ncrna HGNC:49994 PROVISIONAL 8551307 MIR6772 microRNA 6772 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 57772289 57772352 - 16381832;22955976 102465463 ABBA01025282;AC092118;AMYH02032112;NR_106830 hsa-mir-6772 ncrna HGNC:50064 PROVISIONAL 8551508 MIR6770-2 microRNA 6770-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16329305 16329364 + 16381832;22955976 102465908 AC138969;AC244489;NR_107060 hsa-mir-6770-2 ncrna ENSG00000277698 HGNC:50115 PROVISIONAL 8551603 MIR6766 microRNA 6766 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 89326739 89326810 - 16381832;22955976 102466983 ABBA01053007;AC124068;AMYH02031018;NR_106824 hsa-mir-6766 ncrna HGNC:49941 PROVISIONAL 8550510 MIR6771 microRNA 6771 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 50292616 50292675 + 16381832;22955976 102465462 ABBA01000875;AC007597;AMYH02032012;NR_106829 hsa-mir-6771 ncrna HGNC:50212 PROVISIONAL 8551232 MIR6767 microRNA 6767 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 2445392 2445457 + 16381832;22955976 102465459 ABBA01030256;AC106820;AMYH02031252;NR_106825 hsa-mir-6767 ncrna HGNC:50133 PROVISIONAL 8550022 MIR6773 microRNA 6773 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 68233426 68233499 - 16381832;22955976 102466194 ABBA01025481;AC020978;AMYH02032249;NR_106831 hsa-mir-6773 ncrna HGNC:50132 PROVISIONAL 8551242 MIR6774 microRNA 6774 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 85918347 85918416 + 16381832;22955976 102466732 ABBA01034284;AC092723;AMYH02032602;NR_106832 hsa-mir-6774 ncrna HGNC:50202 PROVISIONAL 8550441 MIR6776 microRNA 6776 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 2692861 2692919 - 16381832;22955976 102465465 ABBA01054719;AC005696;AMYH02032783;NR_106834 hsa-mir-6776 ncrna HGNC:50193 PROVISIONAL 8551598 MIR6778 microRNA 6778 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 18340814 18340886 - 16381832;22955976 102466733 ABBA01009733;AC127537;AMYH02033114;NR_106836 hsa-mir-6778 ncrna HGNC:50183 PROVISIONAL 8551583 MIR6777 microRNA 6777 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17813480 17813545 - 16381832;22955976 102465466 ABBA01009745;AC122129;AMYH02033095;NR_106835 hsa-mir-6777 ncrna HGNC:50173 PROVISIONAL 8549813 MIR6780A microRNA 6780a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 42708084 42708151 - 16381832;22955976 102466195 ABBA01006414;AC100793;AMYH02033435;NR_106838 hsa-mir-6780a ncrna HGNC:50069 PROVISIONAL 8550224 MIR6782 microRNA 6782 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 44207771 44207839 - 16381832;22955976 102465469 ABBA01028382;AC004596;AMYH02033472;NR_106840 hsa-mir-6782 ncrna HGNC:50270 PROVISIONAL 8551272 MIR6781 microRNA 6781 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 42823880 42823943 - 16381832;22955976 102465468 ABBA01006406;AC016889;AMYH02033441;NR_106839 hsa-mir-6781 ncrna ENSG00000278447 HGNC:50185 PROVISIONAL 8550749 MIR6784 microRNA 6784 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 45114367 45114433 - 16381832;22955976 102465470 ABBA01028328;AC002117;AMYH02033509;NR_106842 hsa-mir-6784 ncrna HGNC:49988 PROVISIONAL 8550995 MIR6783 microRNA 6783 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 44934618 44934681 - 16381832;22955976 102466734 ABBA01028341;AC015936;AMYH02033503;NR_106841 hsa-mir-6783 ncrna HGNC:50159 PROVISIONAL 8550943 MIR6775 microRNA 6775 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 87834592 87834660 - 16381832;22955976 102465464 ABBA01006922;AC126696;AMYH02032626;NR_106833 hsa-mir-6775 ncrna HGNC:50100 PROVISIONAL 8551384 MIR6779 microRNA 6779 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 38914979 38915042 + 16381832;22955976 102465467 ABBA01031894;AC006441;AMYH02033367;NR_106837 hsa-mir-6779 ncrna HGNC:50148 PROVISIONAL 8551212 MIR6780B microRNA 6780b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 43434542 43434620 + 16381832;22955976 102466746 ABBA01050683;AL359813;AMYH02013646;NR_106894 hsa-mir-6780b ncrna HGNC:50237 PROVISIONAL 8551517 MIR6787 microRNA 6787 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 82236668 82236728 + 16381832;22955976 102465472 ABBA01019673;AC132872;AMYH02034151;NR_106845 hsa-mir-6787 ncrna HGNC:50209 PROVISIONAL 8551573 MIR6786 microRNA 6786 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 81693757 81693869 + 16381832;22955976 102465471 ABBA01032159;AC139530;AMYH02034134;NR_106844 hsa-mir-6786 ncrna HGNC:49970 PROVISIONAL 8551512 MIR6785 microRNA 6785 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 75498548 75498628 + 16381832;22955976 102466911 ABBA01028788;AC100787;AMYH02033999;NR_106843 hsa-mir-6785 ncrna HGNC:50206 PROVISIONAL 8549907 MIR6789 microRNA 6789 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 2235829 2235926 - 16381832;22955976 102466736 ABBA01002714;AC005263;AMYH02035186;NR_106847 hsa-mir-6789 ncrna HGNC:50094 PROVISIONAL 8551202 MIR6790 microRNA 6790 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 6392921 6392983 - 16381832;22955976 102465473 ABBA01055961;AC011491;AMYH02035351;NR_106848 hsa-mir-6790 ncrna HGNC:50161 PROVISIONAL 8550119 MIR6792 microRNA 6792 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 7617439 7617505 + 16381832;22955976 102465475 ABBA01010894;AC008763;AMYH02035403;NR_106850 hsa-mir-6792 ncrna HGNC:50054 PROVISIONAL 8551494 MIR6795 microRNA 6795 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 15179283 15179350 - 16381832;22955976 102465476 ABBA01051101;AC004663;AMYH02035644;NR_106853 hsa-mir-6795 ncrna HGNC:50031 PROVISIONAL 8551181 MIR6796 microRNA 6796 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 40369846 40369907 + 16381832;22955976 102465477 ABBA01040754;AC010271;AMYH02036110;NG_034098;NR_106854 hsa-mir-6796 ncrna HGNC:50186 PROVISIONAL 8551448 MIR6797 microRNA 6797 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 41869627 41869698 + 16381832;22955976 102465478 ABBA01040816;AC010616;AC243967;NR_106855 hsa-mir-6797 ncrna HGNC:50169 PROVISIONAL 8551438 MIR6798 microRNA 6798 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 49009906 49009972 + 16381832;22955976 102466738 ABBA01032951;AC008687;AC245081;NR_106856 hsa-mir-6798 ncrna HGNC:50013 PROVISIONAL 8550884 MIR6800 microRNA 6800 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 49832018 49832099 + 16381832;22955976 102465480 ABBA01032908;AC018766;AMYH02036332;NR_106858 hsa-mir-6800 ncrna HGNC:50042 PROVISIONAL 8551672 MIR6799 microRNA 6799 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 49791866 49791934 + 16381832;22955976 102465479 ABBA01032909;AC006942;AMYH02036332;NR_106857 hsa-mir-6799 ncrna HGNC:50162 PROVISIONAL 8551000 MIR6801 microRNA 6801 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 52222020 52222098 + 16381832;22955976 102466984 ABBA01068261;AC010320;AMYH02036397;NR_106859 hsa-mir-6801 ncrna HGNC:50178 PROVISIONAL 8550980 MIR6794 microRNA 6794 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 12852260 12852327 + 16381832;22955976 102466196 ABBA01029765;AC020934;AMYH02035559;NR_106852 hsa-mir-6794 ncrna HGNC:50117 PROVISIONAL 8551408 MIR6802 microRNA 6802 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 55239912 55239976 - 16381832;22955976 102465481 ABBA01068115;AC010327;AMYH02036457;NR_106860 hsa-mir-6802 ncrna HGNC:50154 PROVISIONAL 8550933 MIR6791 microRNA 6791 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 6736712 6736778 - 16381832;22955976 102465474 ABBA01051474;AC008760;AMYH02035362;NR_106849 hsa-mir-6791 ncrna HGNC:50097 PROVISIONAL 8549982 MIR6804 microRNA 6804 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 55230885 55230952 - 16381832;22955976 102465482 ABBA01068115;AC010327;AMYH02036457;NR_106862 hsa-mir-6804 ncrna HGNC:50253 PROVISIONAL 8550866 MIR6803 microRNA 6803 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 55245186 55245250 - 16381832;22955976 102466739 ABBA01068115;AC010327;AMYH02036457;NR_106861 hsa-mir-6803 ncrna HGNC:50035 PROVISIONAL 8550739 MIR6806 microRNA 6806 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 58334688 58334751 + 16381832;22955976 102465484 ABBA01020773;AC010642;AMYH02036532;NR_106864 hsa-mir-6806 ncrna ENSG00000277588 HGNC:49937 PROVISIONAL 8550570 MIR6807 microRNA 6807 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 58550285 58550376 + 16381832;22955976 102465976 ABBA01020760;AC016630;AMYH02036539;NR_106865 hsa-mir-6807 ncrna HGNC:50191 PROVISIONAL 8551593 MIR6808 microRNA 6808 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1339650 1339708 - 16381832;22955976 102466740 ABBA01016032;AL139287;AMYH02000094;NR_106866 hsa-mir-6808 ncrna HGNC:50046 PROVISIONAL 8551443 MIR6809 microRNA 6809 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 217900513 217900628 - 16381832;22955976 102465485 ABBA01006023;AC009469;AMYH02005783;NR_106867 hsa-mir-6809 ncrna ENSG00000275458 HGNC:49926 PROVISIONAL 8550579 MIR6793 microRNA 6793 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 10828973 10829035 + 16381832;22955976 102466737 ABBA01029894;AC007229;AMYH02035506;NR_106851 hsa-mir-6793 ncrna HGNC:50251 PROVISIONAL 8549873 MIR6810 microRNA 6810 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 218341911 218341980 + 16381832;22955976 102466197 ABBA01023873;AC021016;AMYH02005790;NR_106868 hsa-mir-6810 ncrna HGNC:49987 PROVISIONAL 8551552 MIR6813 microRNA 6813 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 64076955 64077010 - 16381832;22955976 102466741 ABBA01021439;AL590548;AMYH02037482;NR_106871 hsa-mir-6813 ncrna ENSG00000274034 HGNC:50017 PROVISIONAL 8551171 MIR6812 microRNA 6812 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 45425510 45425573 + 16381832;22955976 102465487 ABBA01052660;AL021578;AMYH02037150;NR_106870 hsa-mir-6812 ncrna HGNC:50116 PROVISIONAL 8550320 MIR6811 microRNA 6811 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 237510931 237510988 + 16381832;22955976 102465486 ABBA01042585;AC112721;AMYH02006064;NR_106869 hsa-mir-6811 ncrna HGNC:49944 PROVISIONAL 8551379 MIR6814 microRNA 6814 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 41746772 41746841 - 16381832;22955976 102465488 ABBA01012805;AMYH02037864;AP001615;NR_106872 hsa-mir-6814 ncrna HGNC:50145 PROVISIONAL 8551161 MIR6817 microRNA 6817 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 25455646 25455711 + 16381832;22955976 102466198 ABBA01055175;AL008721;AMYH02038157;NR_106875 hsa-mir-6817 ncrna ENSG00000277872 HGNC:50112 PROVISIONAL 8551040 MIR6818 microRNA 6818 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 30007049 30007113 + 16381832;22955976 102466742 ABBA01055288;AC003681;AMYH02038210;NR_106876 hsa-mir-6818 ncrna HGNC:49940 PROVISIONAL 8550623 MIR6816 microRNA 6816 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 20114686 20114751 - 16381832;22955976 102465490 ABBA01005394;AC006547;AMYH02038056;NR_106874 hsa-mir-6816 ncrna HGNC:50256 PROVISIONAL 8550938 MIR6819 microRNA 6819 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 36286847 36286907 - 16381832;22955976 102465491 ABBA01055437;AMYH02038316;NR_106877;Z82215 hsa-mir-6819 ncrna HGNC:50155 PROVISIONAL 8550214 MIR6815 microRNA 6815 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 45478266 45478326 + 16381832;22955976 102465489 ABBA01074199;AMYH02037931;BX322561;NR_106873 hsa-mir-6815 ncrna HGNC:50225 PROVISIONAL 8549868 MIR6821 microRNA 6821 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 49962866 49962939 + 16381832;22955976 102465493 ABBA01031317;AMYH02038592;BX539320;NR_106879 hsa-mir-6821 ncrna HGNC:49980 PROVISIONAL 8551053 MIR6822 microRNA 6822 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 39138206 39138266 + 16381832;22955976 102466743 ABBA01024812;AC092053;AMYH02006580;NR_106880 hsa-mir-6822 ncrna HGNC:49999 PROVISIONAL 8550114 MIR6805 microRNA 6805 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 55388181 55388242 + 16381832;22955976 102465483 ABBA01068098;AC020922;AMYH02036464;NR_106863 hsa-mir-6805 ncrna HGNC:50215 PROVISIONAL 8550259 MIR6825 microRNA 6825 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 127575266 127575331 - 16381832;22955976 102466199 ABBA01020880;AC084035;AMYH02007602;NR_106883 hsa-mir-6825 ncrna HGNC:50208 PROVISIONAL 8550164 MIR6826 microRNA 6826 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 129272146 129272243 + 16381832;22955976 102465496 ABBA01020934;AC137695;AMYH02007638;NR_106884 hsa-mir-6826 ncrna HGNC:50001 PROVISIONAL 8550094 MIR6828 microRNA 6828 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 170423103 170423162 + 16381832;22955976 102465497 ABBA01058679;AC008041;AMYH02008122;NR_106886 hsa-mir-6828 ncrna HGNC:50057 PROVISIONAL 8550565 MIR6820 microRNA 6820 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 37967563 37967624 + 16381832;22955976 102465492 ABBA01055495;AL031587;AMYH02038348;NR_106878 hsa-mir-6820 ncrna HGNC:50095 PROVISIONAL 8551005 MIR6829 microRNA 6829 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 195882329 195882395 - 16381832;22955976 102465977 ABBA01018427;AC124944;AC245434;NR_106887 hsa-mir-6829 ncrna HGNC:50055 PROVISIONAL 8550603 MIR6831 microRNA 6831 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 140563671 140563751 - 16381832;22955976 102465499 ABBA01026426;AC011399;AMYH02012339;NR_106889 hsa-mir-6831 ncrna HGNC:49936 PROVISIONAL 8550715 MIR6830 microRNA 6830 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 132217849 132217918 - 16381832;22955976 102465498 ABBA01068811;AC034220;AMYH02012214;NR_106888 hsa-mir-6830 ncrna HGNC:49966 PROVISIONAL 8551020 MIR6832 microRNA 6832 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 31633787 31633858 + 16381832;22955976 102466745 ABBA01038083;AL662801;AL662847;AL805934;AMYH02013452;BX511262;CR354443;CR753892;CR759761;NR_106890 hsa-mir-6832 ncrna HGNC:50140 PROVISIONAL 8549858 MIR6823 microRNA 6823 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 48549961 48550021 - 16381832;22955976 102465494 ABBA01024644;AC134772;AMYH02006721;NR_106881 hsa-mir-6823 ncrna HGNC:49952 PROVISIONAL 8550530 MIR6833 microRNA 6833 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 32179816 32179876 + 16381832;22955976 102465500 ABBA01038108;AL662830;AL662884;AL845464;AMYH02013469;BX284686;BX927239;CR812478;CR933878;NR_106891 hsa-mir-6833 ncrna HGNC:50245 PROVISIONAL 8550913 MIR6827 microRNA 6827 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 134367804 134367862 - 16381832;22955976 102466744 ABBA01059156;AC010207;AMYH02007720;NR_106885 hsa-mir-6827 ncrna HGNC:50234 PROVISIONAL 8550515 MIR6824 microRNA 6824 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 48633636 48633698 - 16381832;22955976 102465495 ABBA01024642;AC121252;AMYH02006723;NR_106882 hsa-mir-6824 ncrna HGNC:49946 PROVISIONAL 8550104 MIR6834 microRNA 6834 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 33290245 33290325 + 16381832;22955976 102465501 ABBA01038140;AL662820;AL662827;AMYH02013483;BX000343;CR759786;CR759817;NR_106892 hsa-mir-6834 ncrna HGNC:50108 PROVISIONAL 8550841 MIR6837 microRNA 6837 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 44051766 44051829 + 16381832;22955976 102466985 ABBA01058213;AC017116;AMYH02015615;NR_106896 hsa-mir-6837 ncrna HGNC:50125 PROVISIONAL 8551389 MIR6840 microRNA 6840 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 100356651 100356721 + 16381832;22955976 102466747 ABBA01013219;AC005071;AMYH02016378;NR_106899 hsa-mir-6840 ncrna ENSG00000278005 HGNC:50138 PROVISIONAL 8551131 MIR6838 microRNA 6838 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 44073378 44073433 - 16381832;22955976 102465504 ABBA01058213;AC017116;AMYH02015615;NR_106897 hsa-mir-6838 ncrna HGNC:50050 PROVISIONAL 8551413 MIR6841 microRNA 6841 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 24953796 24953867 - 16381832;22955976 102465506 ABBA01005555;AC107373;AMYH02017634;NR_106900 hsa-mir-6841 ncrna HGNC:50070 PROVISIONAL 8551470 MIR6835 microRNA 6835 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 34240673 34240736 + 16381832;22955976 102465502 ABBA01038180;AL354740;AMYH02013510;NR_106893 hsa-mir-6835 ncrna ENSG00000276404 HGNC:49963 PROVISIONAL 8551257 MIR6836 microRNA 6836 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 2257515 2257577 - 16381832;20889312;22955976 102465503 ABBA01039362;AC004971;AMYH02015064;NR_106895 hsa-mir-6836 ncrna HGNC:50067 PROVISIONAL 8550159 MIR6843 microRNA 6843 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 27610601 27610751 - 16381832;22955976;24162737 102465508 ABBA01005588;AF311103;AMYH02017672;NR_106902 hsa-mir-6843 ncrna HGNC:50240 PROVISIONAL 8551542 MIR6842 microRNA 6842 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 27433370 27433434 + 16381832;22955976 102465507 ABBA01005587;AF311103;AMYH02017671;NR_106901 hsa-mir-6842 ncrna HGNC:50254 PROVISIONAL 8550295 MIR6845 microRNA 6845 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 143837756 143837816 - 6480464 16381832;22955976 102466748 ABBA01005239;AC105049;AC234917;AMYH02018949;NR_106904 hsa-mir-6845 ncrna HGNC:49956 PROVISIONAL 8551322 MIR6844 microRNA 6844 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 124508515 124508576 - 16381832;22955976 102466200 ABBA01037899;AC090198;AMYH02018718;NR_106903 hsa-mir-6844 ncrna HGNC:50135 PROVISIONAL 8551588 MIR6846 microRNA 6846 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 144057321 144057380 - 16381832;22955976 102465509 ABBA01005226;AC109322;AMYH02018953;NR_106905 hsa-mir-6846 ncrna HGNC:50026 PROVISIONAL 8550822 MIR6839 microRNA 6839 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 64679064 64679176 + 16381832;22955976 102465505 AC016769;AMYH02015853;NR_106898 hsa-mir-6839 ncrna HGNC:49953 PROVISIONAL 8549843 MIR6847 microRNA 6847 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 144079874 144079942 + 16381832;22955976 102465510 ABBA01005225;AC109322;AMYH02018955;NR_106906 hsa-mir-6847 ncrna HGNC:50022 PROVISIONAL 8549888 MIR6848 microRNA 6848 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 144317246 144317315 - 16381832;22955976 102465511 ABBA01005216;AC233992;AF205589;AMYH02018999;NG_034192;NR_106907 hsa-mir-6848 ncrna HGNC:50176 PROVISIONAL 8550347 MIR6849 microRNA 6849 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 144400277 144400345 - 16381832;22955976 102466749 ABBA01005207;AC233992;AF205589;AMYH02019006;NR_106908 hsa-mir-6849 ncrna HGNC:49991 PROVISIONAL 8549922 MIR6850 microRNA 6850 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 144791931 144791991 - 16381832;22955976 102465978 ABBA01005195;AF235103;AMYH02019018;NR_106909 hsa-mir-6850 ncrna HGNC:50093 PROVISIONAL 8551073 MIR6852 microRNA 6852 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 35710676 35710741 - 16381832;22955976 102465513 ABBA01064987;AL133410;AMYH02019463;NR_106911 hsa-mir-6852 ncrna HGNC:49993 PROVISIONAL 8550124 MIR6851 microRNA 6851 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 33467869 33467935 - 16381832;22955976 102465512 ABBA01065051;AL356218;AMYH02019422;NR_106910 hsa-mir-6851 ncrna HGNC:50083 PROVISIONAL 8549912 MIR6854 microRNA 6854 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 98229149 98229217 - 16381832;22955976 102465514 ABBA01042918;AL360081;AMYH02021319;NR_106913 hsa-mir-6854 ncrna HGNC:50084 PROVISIONAL 8550446 MIR6853 microRNA 6853 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 35732922 35732995 + 16381832;22955976 102466201 ABBA01064987;AL133410;AMYH02019464;NR_106912 hsa-mir-6853 ncrna HGNC:49945 PROVISIONAL 8550662 MIR6855 microRNA 6855 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 129869605 129869671 + 16381832;22955976 102466750 ABBA01043952;AL158207;AMYH02021747;NR_106914 hsa-mir-6855 ncrna HGNC:50061 PROVISIONAL 8550139 MIR6856 microRNA 6856 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 130626297 130626363 + 16381832;22955976 102465515 ABBA01012052;AL359092;AMYH02021766;NR_106915 hsa-mir-6856 ncrna HGNC:50242 PROVISIONAL 8551613 MIR6857 microRNA 6857 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 53405673 53405765 - 16381832;22955976 102465516 ABBA01056413;AC233728;AMYH02039464;NR_106916;Z97054 hsa-mir-6857 ncrna HGNC:50263 PROVISIONAL 8551045 MIR6859-1 microRNA 6859-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 17369 17436 - 6480464 16381832;22955976 102466751 AL627309;NR_106918 hsa-mir-6859-1 ncrna ENSG00000278267 HGNC:50039 PROVISIONAL 8549893 MIR6859-2 microRNA 6859-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 101973524 101973591 + 16381832;22955976 102465909 AC140725;AMYH02031175;NR_107062 hsa-mir-6859-2 ncrna ENSG00000275449 HGNC:49954 PROVISIONAL 8550894 MIR6860 microRNA 6860 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 67045643 67045708 + 16381832;22955976 102465518 ABBA01024050;AMYH02024985;AP000729;NR_106920 hsa-mir-6860 ncrna HGNC:50086 PROVISIONAL 8550545 MIR6861 microRNA 6861 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 112163258 112163321 - 16381832;22955976 102465519 ABBA01019919;AC073575;AMYH02027217;NR_106921 hsa-mir-6861 ncrna HGNC:50129 PROVISIONAL 8551103 MIR6862-1 microRNA 6862-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 28390982 28391051 - 16381832;22955976 102465520 ABBA01015960;AC138894;NR_106922 hsa-mir-6862-1 ncrna HGNC:50052 PROVISIONAL 8550976 MIR6862-2 microRNA 6862-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 28724252 28724321 + 16381832;22955976 102465907 AC145285;AMYH02031780;NR_107058 hsa-mir-6862-2 ncrna HGNC:50192 PROVISIONAL 8551537 MIR6863 microRNA 6863 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 56904264 56904353 + 16381832;22955976 102466752 ABBA01025253;AC012181;AMYH02032096;NR_106923 hsa-mir-6863 ncrna HGNC:49942 PROVISIONAL 8551247 MIR6866 microRNA 6866 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 40161933 40162001 + 16381832;22955976 102466986 ABBA01031840;AC068669;AMYH02033394;NR_106926 hsa-mir-6866 ncrna HGNC:49932 PROVISIONAL 8551499 MIR6865 microRNA 6865 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 4970086 4970150 - 16381832;22955976 102465522 ABBA01054785;AC004771;AMYH02032838;NR_106925 hsa-mir-6865 ncrna HGNC:50182 PROVISIONAL 8550239 MIR6864 microRNA 6864 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 4969702 4969771 - 16381832;22955976 102465521 ABBA01054785;AC004771;AMYH02032838;NR_106924 hsa-mir-6864 ncrna HGNC:50226 PROVISIONAL 8550254 MIR6858 microRNA 6858 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 154450320 154450386 + 16381832;22955976 102465517 ABBA01045279;AC244090;BX936365;NR_106917 hsa-mir-6858 ncrna HGNC:50250 PROVISIONAL 8550012 MIR6868 microRNA 6868 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 76098019 76098076 - 16381832;22955976 102466753 ABBA01028759;AC018665;AMYH02034006;NR_106928 hsa-mir-6868 ncrna HGNC:50096 PROVISIONAL 8550618 MIR6870 microRNA 6870 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 10649636 10649695 - 16381832;22955976 102465525 ABBA01053936;AL035456;AMYH02036699;NR_106930 hsa-mir-6870 ncrna HGNC:50184 PROVISIONAL 8551166 MIR6872 microRNA 6872 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 50273236 50273297 + 16381832;22955976 102465526 ABBA01024552;AMYH02006766;NR_106932;U73167;U90094 hsa-mir-6872 ncrna HGNC:50037 VALIDATED 8550411 MIR6871 microRNA 6871 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 41169023 41169078 + 16381832;22955976 102466912 ABBA01052574;AL022394;AMYH02037082;NR_106931 hsa-mir-6871 ncrna HGNC:49964 PROVISIONAL 8550099 MIR6869 microRNA 6869 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 1392900 1392961 - 16381832;22955976 102465524 ABBA01053771;AL109658;AMYH02036566;NR_106929 hsa-mir-6869 ncrna HGNC:50056 PROVISIONAL 8549863 MIR6867 microRNA 6867 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 40193597 40193663 + 16381832;22955976 102465523 ABBA01031840;AC068669;AMYH02033395;NR_106927 hsa-mir-6867 ncrna HGNC:50134 PROVISIONAL 8551419 MIR6874 microRNA 6874 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 5711840 5711910 - 16381832;22955976 102466203 ABBA01039475;AC008167;AMYH02015147;NR_106934 hsa-mir-6874 ncrna HGNC:50146 PROVISIONAL 8551527 MIR6877 microRNA 6877 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 133051996 133052059 + 16381832;22955976 102465528 ABBA01032474;AL162417;AMYH02021822;NR_106937 hsa-mir-6877 ncrna HGNC:50205 PROVISIONAL 8549997 MIR6879 microRNA 6879 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 65018505 65018570 + 16381832;22955976 102466756 ABBA01024138;AMYH02024949;AP000436;NR_106939 hsa-mir-6879 ncrna HGNC:49957 PROVISIONAL 8550817 MIR6876 microRNA 6876 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 25345402 25345474 + 16381832;22955976 102465527 ABBA01005563;AC091185;AMYH02017644;NR_106936 hsa-mir-6876 ncrna HGNC:50181 PROVISIONAL 8550144 MIR6880 microRNA 6880 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 124337181 124337242 - 16381832;22955976 102466204 ABBA01060380;AC073916;AMYH02027470;NR_106940 hsa-mir-6880 ncrna HGNC:50187 PROVISIONAL 8550154 MIR6873 microRNA 6873 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 33287227 33287289 - 16381832;22955976 102466754 ABBA01038140;AL662820;AL662827;AMYH02013483;BX000343;CR759786;CR759817;NR_106933 hsa-mir-6873 ncrna HGNC:50231 PROVISIONAL 8550700 MIR6878 microRNA 6878 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 150492345 150492410 + 16381832;22955976 102465529 ABBA01049346;AL356356;AMYH02001853;NG_034226;NR_106938 hsa-mir-6878 ncrna HGNC:50269 PROVISIONAL 8551078 MIR6881 microRNA 6881 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 74411357 74411432 - 16381832;22955976 102465530 ABBA01060488;AC090826;AMYH02030789;NR_106941 hsa-mir-6881 ncrna HGNC:50098 PROVISIONAL 8551677 MIR6882 microRNA 6882 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 74840642 74840707 - 16381832;22955976 102465531 ABBA01060505;AC091230;AMYH02030798;NR_106942 hsa-mir-6882 ncrna HGNC:49928 PROVISIONAL 8551048 MIR6884 microRNA 6884 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 40026332 40026409 - 16381832;22955976 102466757 ABBA01031850;AC102799;AMYH02033391;NR_106944 hsa-mir-6884 ncrna HGNC:50091 PROVISIONAL 8551568 MIR6885 microRNA 6885 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 6389638 6389703 - 16381832;22955976 102465533 ABBA01055961;AC011491;AMYH02035351;NR_106945 hsa-mir-6885 ncrna HGNC:50221 PROVISIONAL 8551252 MIR6886 microRNA 6886 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 11113474 11113534 + 16381832;22955976 102465534 ABBA01029871;AC011485;AMYH02035521;NR_106946 hsa-mir-6886 ncrna HGNC:50121 PROVISIONAL 8551453 MIR6891 microRNA 6891 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 31355224 31355316 - 16381832;20205591;21051598;22955976;23417110 102465537 AL669854;AL671883;BX248310;BX927178;NR_106951 hsa-mir-6891 ncrna HGNC:50243 PROVISIONAL 8551344 MIR6890 microRNA 6890 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 49099854 49099914 - 16381832;22955976 102465536 ABBA01024612;AC135506;AMYH02006742;NR_106950 hsa-mir-6890 ncrna HGNC:49990 PROVISIONAL 8551428 MIR6889 microRNA 6889 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 41252992 41253050 - 16381832;22955976 102466758 ABBA01055626;AL035681;AMYH02038432;NR_106949 hsa-mir-6889 ncrna HGNC:50014 PROVISIONAL 8551653 MIR6892 microRNA 6892 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 143382686 143382800 + 16381832;22955976 102465538 ABBA01034136;AC092214;AMYH02016934;NR_106952 hsa-mir-6892 ncrna HGNC:50053 PROVISIONAL 8551093 MIR6875 microRNA 6875 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 100868036 100868107 + 16381832;22955976 102466755 ABBA01013177;AC011895;AMYH02016392;NR_106935 hsa-mir-6875 ncrna HGNC:50015 PROVISIONAL 8550720 MIR6883 microRNA 6883 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 8144994 8145071 - 16381832;22955976 102465532 ABBA01054897;AC129492;AMYH02032920;NR_106943 hsa-mir-6883 ncrna HGNC:50019 PROVISIONAL 8551433 MIR6887 microRNA 6887 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 35122700 35122764 + 16381832;22955976 102466205 ABBA01018732;AC020907;AMYH02035975;NR_106947 hsa-mir-6887 ncrna HGNC:50065 PROVISIONAL 8551698 MIR6888 microRNA 6888 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 159186835 159186901 + 16381832;22955976 102465535 ABBA01004859;AC009307;AMYH02005066;NR_106948 hsa-mir-6888 ncrna HGNC:50071 PROVISIONAL 8550584 MIR6893 microRNA 6893 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 144435551 144435619 - 16381832;22955976 102466271 ABBA01005205;AC084125;AMYH02019006;NR_106953 hsa-mir-6893 ncrna HGNC:50130 PROVISIONAL 8550861 MIR6895 microRNA 6895 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 53195411 53195488 - 16381832;22955976 102465539 ABBA01056385;AL139396;AMYH02039459;NR_106955 hsa-mir-6895 ncrna HGNC:50210 PROVISIONAL 1344921 MIR7-2 microRNA 7-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q26.1 65555945 65556054 + 89155056 89155165 + 88611825 88611934 + 12624257;16381832;17604727;17616659;19135553;23135998 407044 ABBA01053000;AC013489;AJ550392;AMYH02031006;NR_029606 MIRN7-2;hsa-mir-7-2;mir-7-2 APPROVED ncrna ENSG00000207703 HGNC:31639 PROVISIONAL 2290222 MIR708 microRNA 708 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q14.1 76422187 76422274 - 79113066 79113153 - 79402022 79402109 - 6480464 16381832;17604727;17616659;21852381;22552290;22573352;22723308;23328481;23568547;23754151;23970374 100126333 ABBA01017397;AMYH02025164;AP001838;NR_030598 MIRN708;hsa-mir-708 APPROVED ncrna ENSG00000211997 HGNC:33654 PROVISIONAL 1347493 MIR7-3HG MIR7-3 host gene (non-protein coding) INTERACTS WITH atrazine; copper atom; copper(0) 19 19 19 p13.3 4706995 4710446 + 4769117 4772568 + 4769105 4772556 + 6480464 11854097;12477932;15489334;16344560 284424 Q8N6C7 AB058892;AB058893;ABBA01056045;AC006537;AMYH02035301;BC090884;BC117294;BC117296;BC143983;BE671262;CH471139;DB051621;HG510275;HG510276;HG510277;HG510278;HG510279;NR_027148 BAB40233;BAB40234;EAW69196;EAW69197;EAW69198;Q8N6C7 Hs.326728 C19orf30;Huh7;LINC00306;NCRNA00306;PGSF1;uc002mbe.2 APPROVED ncrna ENSG00000176840 HGNC:30049 16628 VALIDATED 1348311 MIR7-3 microRNA 7-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.3 4708560 4708669 + 4770682 4770791 + 4770670 4770779 + 12624257;16381832;17604727;17616659;19135553;23135998 407045 ABBA01056045;AC006537;AJ550393;AMYH02035301;NR_029607 MIRN7-3;hsa-mir-7-3;mir-7-3 APPROVED ncrna ENSG00000207630 HGNC:31640 PROVISIONAL 8550027 MIR7106 microRNA 7106 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 113159113 113159177 - 16381832;22955976 102466222 ABBA01019949;AC089999;AMYH02027233;NR_106956 hsa-mir-7106 ncrna HGNC:50085 PROVISIONAL 8550633 MIR6894 microRNA 6894 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 53198889 53198945 - 16381832;22955976 102466759 ABBA01056386;AL139396;AMYH02039459;NR_106954 hsa-mir-6894 ncrna HGNC:49938 PROVISIONAL 8550778 MIR7107 microRNA 7107 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 121444273 121444352 - 16381832;22955976 102465665 ABBA01020163;AC073650;AMYH02027393;NR_106957 hsa-mir-7107 ncrna HGNC:50006 PROVISIONAL 8551663 MIR7108 microRNA 7108 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 2434914 2435000 - 16381832;22955976 102466806 AC011522;AMYH02035200;NR_106958 hsa-mir-7108 ncrna HGNC:49998 PROVISIONAL 3497324 MIR711 microRNA 711 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 48572077 48572152 - 48616335 48616410 - 48578902 48578977 - 6480464;8554872 16381832;18215311 100313843 ABBA01024644;AC121252;AMYH02006722;NR_031756 hsa-mir-711 APPROVED ncrna HGNC:37316 PROVISIONAL 8549972 MIR7110 microRNA 7110 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 123161794 123161879 + 16381832;22955976 102465667 ABBA01016462;AC083797;AMYH02007548;NR_106960 hsa-mir-7110 ncrna HGNC:50024 PROVISIONAL 8550909 MIR7112 microRNA 7112 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 144262673 144262737 - 6480464 16381832;22955976 102465906 ABBA01005218;AC110280;AC145291;NR_107057 MIR7112-1;MIR7112-2;hsa-mir-7112-1;hsa-mir-7112-2 APPROVED ncrna HGNC:50149 PROVISIONAL 8551618 MIR7111 microRNA 7111 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 35470508 35470579 + 16381832;22955976 102465668 ABBA01038234;AL022721;AMYH02013541;NR_106961 hsa-mir-7111 ncrna HGNC:50073 PROVISIONAL 8550783 MIR7114 microRNA 7114 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 137450026 137450086 - 16381832;22955976 102466223 ABBA01022773;AL365502;AMYH02021937;NR_106964 hsa-mir-7114 ncrna HGNC:50157 PROVISIONAL 8551532 MIR7150 microRNA 7150 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 123485529 123485622 - 16381832;19324892;22954617 102465688 ABBA01043728;AL445489;AMYH02021614;NR_106972 hsa-mir-7150 ncrna HGNC:49982 PROVISIONAL 8550421 MIR7151 microRNA 7151 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 67403351 67403410 - 16381832;23034410 102466814 ABBA01019543;AC022029;AMYH02023240;NG_034072;NR_106973 hsa-mir-7151 ncrna HGNC:50170 PROVISIONAL 8550705 MIR7113 microRNA 7113 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 68032864 68032922 + 16381832;22955976 102465669 ABBA01024019;AMYH02025001;AP002807;NR_106963 hsa-mir-7113 ncrna HGNC:49947 PROVISIONAL 8550406 MIR7152 microRNA 7152 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 71790747 71790800 + 16381832;23034410 102465689 ABBA01020373;AL731541;AMYH02023302;NR_106974 hsa-mir-7152 ncrna HGNC:50257 PROVISIONAL 8551475 MIR7153 microRNA 7153 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 11654885 11654941 - 16381832;23034410 102465690 ABBA01073997;AMYH02034315;AP001120;NR_106975 hsa-mir-7153 ncrna HGNC:50190 PROVISIONAL 8551186 MIR7154 microRNA 7154 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 45691704 45691776 - 16381832;23034410 102465691 ABBA01060760;AC044839;AMYH02024693;NR_106976 hsa-mir-7154 ncrna ENSG00000276639 HGNC:49972 PROVISIONAL 8550793 MIR7155 microRNA 7155 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 64341849 64341904 - 16381832;23034410 102466815 AMYH02024934;AP003774;NR_106977 hsa-mir-7155 ncrna ENSG00000278359 HGNC:50005 PROVISIONAL 8549823 MIR7156 microRNA 7156 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 77060143 77060202 + 16381832;23034410 102466995 ABBA01074403;AL035409;AMYH02001291;NR_106978 hsa-mir-7156 ncrna HGNC:50023 PROVISIONAL 8551088 MIR7159 microRNA 7159 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 33899135 33899200 + 16381832;23034410 102466816 ABBA01038163;AL138889;AMYH02013503;NR_106982 hsa-mir-7159 ncrna ENSG00000276824 HGNC:49978 PROVISIONAL 8551628 MIR7157 microRNA 7157 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 140586626 140586685 - 16381832;23034410 102465692 ABBA01028104;AC108036;AMYH02004890;NR_106979 hsa-mir-7157 ncrna HGNC:50010 PROVISIONAL 8551522 MIR7109 microRNA 7109 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 31621467 31621531 - 16381832;22955976 102465666 ABBA01055341;AL096768;AMYH02038246;NR_106959 hsa-mir-7109 ncrna HGNC:50122 PROVISIONAL 8549902 MIR7160 microRNA 7160 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 2076589 2076640 + 16381832;23034410 102465695 ABBA01016751;AC125453;AC245164;NR_106983 hsa-mir-7160 ncrna HGNC:50028 PROVISIONAL 8550017 MIR7161 microRNA 7161 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 158609707 158609790 + 16381832;23034410 102465694 ABBA01021087;AL591025;AMYH02014852;NR_106981 hsa-mir-7161 ncrna HGNC:49985 PROVISIONAL 1351622 MIR7-1 microRNA 7-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q21.32 57155676 57155785 - 86584663 86584772 - 83969748 83969857 - 6480464;8554872 12624257;16381832;17604727;17616659;18086561;18483236;18922890;19135553;20813671;20819078;20889907;21912531;22268729;22614005;22675342;22705304;22853714;23135998;23192662;23223022;23373996;23384942;24185687;24370822;24760272;24789908 407043 ABBA01034012;AJ550391;AL354733;AMYH02021125;NG_029577;NR_029605 MIRN7-1;hsa-mir-7-1;mir-7-1 APPROVED ncrna HGNC:31638 615239 VALIDATED 8550336 MIR7162 microRNA 7162 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 30368597 30368665 - 16381832;23034410 102466227 ABBA01034346;AL161651;AMYH02022559;NR_106985 hsa-mir-7162 ncrna ENSG00000276347 HGNC:50189 PROVISIONAL 3516305 MIR718 microRNA 718 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 153519076 153519145 - 153285371 153285440 - 154019920 154019989 - 16381832;18215311;24815691 100313781 AMYH02040852;NG_007107;NR_031757;U52112 1748039;1802118;1807816;2035082;2035084;2035086;2035088;2035090;2035092;2035094;2035096;2035098;2035100 ECD01941;ECD04883;G65801;REN88550;REN88551;REN88552;REN88553;REN88554;REN88555;REN88556;REN88557;REN88558;REN88559 hsa-mir-718 APPROVED ncrna ENSG00000211524 HGNC:37317 300929 PROVISIONAL 8549164 MIR7515 microRNA 7515 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 6650373 6650439 + 16381832;23087254 102466235 ABBA01023890;AC097517;AMYH02003226;NR_106986 hsa-mir-7515 ncrna HGNC:49839 PROVISIONAL 8548987 MIR7515HG MIR7515 host gene (non-protein coding) p25.2 102800314 AC097517;BX119852;DB061664;HG493589;NR_110497 Hs.258100 ncrna HGNC:49838 VALIDATED 3516307 MIR759 microRNA 759 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 34370070 34370160 + 53384185 53384275 + 52810050 52810140 + 6480464 16381832;16954537;18215311;20677013 100313778 ABBA01037066;AL139085;AMYH02028051;NR_031582 hsa-mir-759 APPROVED ncrna ENSG00000211579 HGNC:37307 PROVISIONAL 3497320 MIR761 microRNA 761 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 50588633 50588691 - 52302016 52302074 - 51836344 51836402 - 6480464 16381832;16954537;18215311 100313892 ABBA01074787;AL589663;AMYH02001002;NR_031580 hsa-mir-761 APPROVED ncrna HGNC:37305 VALIDATED 2312936 MIR720 microRNA 720 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 162458741 162458850 + 164059129 164059238 + 16381832;18230126;21649547 100302198 AC117411;NR_031712 MIRN720;hsa-mir-720 APPROVED miscrna HGNC:35375 PROVISIONAL 3497330 MIR762 microRNA 762 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 29392438 29392517 - 30905224 30905306 + 30893903 30893985 + 6480464;8554872 16381832;16954537;18215311;23469087 100313837 ABBA01042067;AC135048;AMYH02031835;NR_031576 hsa-mir-762 APPROVED ncrna ENSG00000211591 HGNC:37303 PROVISIONAL 2290268 MIR758 microRNA 758 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81548389 81548476 + 101492357 101492444 + 101026020 101026107 + 6480464 16381832;16954537;17604727;21885853;22282338 768212 ABBA01048514;AL132709;AMYH02029867;NR_030406 MIRN758;hsa-mir-758 APPROVED ncrna ENSG00000211582 HGNC:33133 PROVISIONAL 3497329 MIR764 microRNA 764 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 114309102 114309186 + 113873918 113874002 + 114639435 114639519 + 6480464 16381832;16954537;18215311;22407479 100313838 ABBA01053593;AC007025;AC233299;AMYH02040268;NR_031581 hsa-mir-764 APPROVED ncrna ENSG00000212100 HGNC:37306 PROVISIONAL 8550638 MIR7641-2 microRNA 7641-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 75604209 75604261 + 16381832;23444042 102465753 ABBA01030697;AC007182;AMYH02029541;NR_106988 B-ATF;hsa-mir-7641-2 ncrna HGNC:50214 PROVISIONAL 2290208 MIR760 microRNA 760 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p22.1 92563575 92563654 + 94312388 94312467 + 93846832 93846911 + 6480464 16381832;16954537;17604727;22970209;24097871 100126348 ABBA01045519;AL049796;AMYH02001505;NR_030621 MIRN760;hsa-mir-760 APPROVED ncrna HGNC:33666 PROVISIONAL 2290262 MIR766 microRNA 766 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q24 119235357 119235467 - 118780701 118780811 - 119646738 119646848 - 6480464 16381832;16954537;23653361 768218 AC004913;AMYH02040338;NR_030413 MIRN766;hsa-mir-766 APPROVED ncrna HGNC:33139 PROVISIONAL 2290260 MIR765 microRNA 765 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q23.1 129977154 129977267 - 156905923 156906036 - 156936131 156936244 - 6480464;8554872 16381832;16954537 768220 ABBA01016641;AL356104;AMYH02001983;NR_030527 1664946 RH64623 MIRN765;hsa-mir-765 APPROVED ncrna HGNC:33141 PROVISIONAL 2290265 MIR767 microRNA 767 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q28 151808698 151808806 - 151561893 151562001 - 152393421 152393529 - 16381832;16954537 768215 ABBA01037311;AC108171;AMYH02040789;NR_030409 MIRN767;hsa-mir-767 APPROVED ncrna ENSG00000211583 HGNC:33136 PROVISIONAL 2290263 MIR769 microRNA 769 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.32 43327203 43327320 + 46522190 46522307 + 46018932 46019049 + 16381832;16954537 768217 ABBA01040959;AC007785;AMYH02036215;NR_030412 MIRN769;hsa-mir-769 APPROVED ncrna ENSG00000211580 HGNC:33138 PROVISIONAL 2290258 MIR770 microRNA 770 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81372804 81372901 + 101318727 101318824 + 100852390 100852487 + 6480464 16381832;16954537 768222 ABBA01048519;AL117190;AMYH02029862;NR_030528 MIRN770;hsa-mir-770 APPROVED ncrna ENSG00000211574 HGNC:33143 PROVISIONAL 8550990 MIR7702 microRNA 7702 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 111271156 111271214 - 16381832;23535375 102465800 ABBA01042735;AL162414;AMYH02021475;NR_106989 hsa-mir-7702 ncrna ENSG00000274263 HGNC:50216 PROVISIONAL 8550826 MIR7703 microRNA 7703 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 24143489 24143565 - 16381832;23535375 102465801 ABBA01061333;AL136295;AMYH02028879;NR_106990 hsa-mir-7703 ncrna HGNC:50271 PROVISIONAL 8550560 MIR7843 microRNA 7843 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 72516820 72516898 + 16381832;23226537 102465832 ABBA01030786;AC004828;AMYH02029474;NR_106994 hsa-mir-7843 ncrna HGNC:50074 PROVISIONAL 8551578 MIR7844 microRNA 7844 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 94571231 94571352 - 16381832;23226537 102465834 ABBA01053361;AC026672;AMYH02026954;NR_106998 hsa-mir-7844 ncrna ENSG00000277302 HGNC:50044 PROVISIONAL 8549853 MIR7846 microRNA 7846 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 12166943 12167038 + 16381832;23226537 102465836 ABBA01003075;AL357835;AMYH02000307;NR_107000 hsa-mir-7846 ncrna ENSG00000275459 HGNC:50029 PROVISIONAL 8550129 MIR7848 microRNA 7848 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 133046481 133046581 - 16381832;23226537 102466865 ABBA01014201;AF305872;AMYH02018810;NR_107002 hsa-mir-7848 ncrna HGNC:50058 PROVISIONAL 8551461 MIR7850 microRNA 7850 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 2630715 2630793 + 16381832;23226537 102465838 AC092068;AMYH02035209;NR_107004 hsa-mir-7850 ncrna ENSG00000277904 HGNC:50118 PROVISIONAL 8551116 MIR7845 microRNA 7845 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 207166400 207166498 + 16381832;23226537 102465835 ABBA01062675;AC007879;AMYH02005640;NR_106999 hsa-mir-7845 ncrna ENSG00000277590 HGNC:50267 PROVISIONAL 8550305 MIR7849 microRNA 7849 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 146408583 146408688 + 16381832;23226537 102465837 ABBA01070047;AC093863;AMYH02010262;NR_107003 hsa-mir-7849 ncrna ENSG00000278438 HGNC:50166 PROVISIONAL 8550889 MIR7851 microRNA 7851 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 42323700 42323859 - 16381832;23226537 102467003 ABBA01031404;AC079684;AMYH02026359;NR_107005 hsa-mir-7851 ncrna HGNC:50127 PROVISIONAL 8551297 MIR7853 microRNA 7853 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6169304 6169435 - 16381832;23226537;24324551 102466866 ABBA01022015;AL157775;AMYH02013041;NR_107007 hsa-mir-7853 ncrna HGNC:49933 PROVISIONAL 8550759 MIR7856 microRNA 7856 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 86357632 86357687 - 16381832;23226537 102465842 AL136382;AMYH02001406;NR_107010 hsa-mir-7856 ncrna HGNC:50268 PROVISIONAL 8550300 MIR7854 microRNA 7854 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 81533902 81533966 + 16381832;23226537 102465840 ABBA01016962;AC092139;AMYH02032511;NR_107008 hsa-mir-7854 ncrna HGNC:50047 PROVISIONAL 8551262 MIR7852 microRNA 7852 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 107897223 107897304 + 16381832;23226537 102465839 ABBA01028424;AL353892;AMYH02001660;NR_107006 hsa-mir-7852 ncrna ENSG00000275455 HGNC:50201 PROVISIONAL 8551424 MIR7973-1 microRNA 7973-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 51314034 51314109 + 16381832;23660593 102466250 AC020891;AMYH02030430;NR_107012 hsa-mir-7973-1 ncrna ENSG00000278098 HGNC:50040 PROVISIONAL 8550290 MIR7855 microRNA 7855 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 64785626 64785686 - 16381832;23226537 102465841 ABBA01018369;AL121774;AMYH02029362;NR_107009 hsa-mir-7855 ncrna HGNC:50244 PROVISIONAL 2290242 MIR744 microRNA 744 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p12 12015760 12015857 + 11985216 11985313 + 12081899 12081996 + 6480464 16381832;16954537;17604727;21991303 100126313 ABBA01055000;AC005410;AMYH02032997;NG_033952;NR_030613 MIRN744;hsa-mir-744 APPROVED ncrna HGNC:33658 PROVISIONAL 8551504 MIR7973-2 microRNA 7973-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 51314032 51314107 - 16381832;23660593 102465855 AC020891;AMYH02030430;NR_107013 hsa-mir-7973-2 ncrna HGNC:50080 PROVISIONAL 8550037 MIR7705 microRNA 7705 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 100702968 100703024 - 16381832;23535375 102466854 ABBA01037582;AMYH02018507;AP001205;NR_106992 hsa-mir-7705 ncrna ENSG00000277719 HGNC:50143 PROVISIONAL 8550831 MIR7974 microRNA 7974 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 11495544 11495622 - 16381832;23660593 102465856 ABBA01029846;AC008481;AMYH02035530;NR_107014 hsa-mir-7974 ncrna HGNC:49992 PROVISIONAL 8550710 MIR7978 microRNA 7978 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 21464700 21464758 - 16381832;23660593 102465859 ABBA01032652;AC110612;AMYH02008865;NR_107018 hsa-mir-7978 ncrna HGNC:50113 PROVISIONAL 8550525 MIR7976 microRNA 7976 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 127587111 127587176 - 16381832;23660593 102465857 ABBA01020881;AC084035;AMYH02007603;NR_107016 hsa-mir-7976 ncrna ENSG00000276083 HGNC:50092 PROVISIONAL 8551068 MIR8052 microRNA 8052 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 130666735 130666803 + 16381832;23612084 102466873 ABBA01023046;AMYH02025793;AP003486;NR_107019 hsa-mir-8052 ncrna ENSG00000274999 HGNC:50252 PROVISIONAL 8550042 MIR7977 microRNA 7977 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 176515103 176515151 + 16381832;23660593 102465858 ABBA01058602;AC092938;AMYH02008187;NR_107017 hsa-mir-7977 ncrna HGNC:49969 PROVISIONAL 8550923 MIR8053 microRNA 8053 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 47652669 47652743 + 16381832;23612084 102467004 ABBA01014337;AC092597;AMYH02009161;NR_107020 hsa-mir-8053 ncrna ENSG00000277388 HGNC:50137 PROVISIONAL 8549927 MIR8055 microRNA 8055 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 6622124 6622220 - 16381832;23612084 102465861 ABBA01007056;AF287957;AMYH02017290;NR_107022 hsa-mir-8055 ncrna ENSG00000276580 HGNC:50241 PROVISIONAL 8550326 MIR8056 microRNA 8056 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 173347455 173347536 + 16381832;23612084 102465862 ABBA01044022;AC016573;AMYH02012775;NR_107023 hsa-mir-8056 ncrna ENSG00000274994 HGNC:49948 PROVISIONAL 8550310 MIR8054 microRNA 8054 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 23419105 23419190 - 16381832;23612084 102465860 ABBA01061007;AC100767;AMYH02024447;NR_107021 hsa-mir-8054 ncrna ENSG00000275868 HGNC:50177 PROVISIONAL 2290261 MIR802 microRNA 802 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 21 q22.12 22292222 22292315 + 37093013 37093106 + 35720715 35720808 + 6480464 16381832;16973894;18952845;20558762 768219 ABBA01057373;AF015720;AMYH02037766;NG_011402;NR_030414 MIRN802;hsa-mir-802 APPROVED ncrna ENSG00000211590 HGNC:33140 PROVISIONAL 8550436 MIR8058 microRNA 8058 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 82688931 82689019 + 16381832;23612084 102465863 ABBA01016945;AC099506;AMYH02032529;NR_107025 hsa-mir-8058 ncrna HGNC:50018 PROVISIONAL 8549848 MIR8057 microRNA 8057 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 26591467 26591535 - 16381832;23612084 102466874 ABBA01022571;AC090206;AMYH02034457;NR_107024 hsa-mir-8057 ncrna HGNC:49960 PROVISIONAL 8549833 MIR7975 microRNA 7975 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 55123225 55123292 - 16381832;23660593 102466872 ABBA01068126;AC010327;AMYH02036452;NR_107015 hsa-mir-7975 ncrna ENSG00000275863 HGNC:49967 PROVISIONAL 8550773 MIR8060 microRNA 8060 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 96359964 96360039 + 16381832;23612084 102465864 ABBA01026949;AC107304;AMYH02007268;NR_107027 hsa-mir-8060 ncrna ENSG00000278103 HGNC:50180 PROVISIONAL 8551222 MIR8062 microRNA 8062 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 7371608 7371692 + 16381832;23612084 102465865 ABBA01053910;AL078643;AMYH02036669;NR_107029 hsa-mir-8062 ncrna ENSG00000278159 HGNC:49975 PROVISIONAL 8550342 MIR8061 microRNA 8061 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 54645309 54645383 + 16381832;23612084 102466251 ABBA01068150;AC009892;AC245036;CU024913;CU234142;CU467612;NR_107028 hsa-mir-8061 ncrna ENSG00000277636 HGNC:50077 PROVISIONAL 8550070 MIR8064 microRNA 8064 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 52846463 52846552 - 16381832;23612084 102465866 ABBA01024498;AC099667;NR_107031 hsa-mir-8064 ncrna HGNC:50236 PROVISIONAL 8550550 MIR8066 microRNA 8066 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 101240795 101240872 - 16381832;23612084 102465868 ABBA01063688;AMYH02009808;AP001939;NR_107033 hsa-mir-8066 ncrna HGNC:50043 PROVISIONAL 8550352 MIR8063 microRNA 8063 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 36972821 36972901 - 16381832;23612084 102466875 ABBA01038496;AC018563;AMYH02030201;NR_107030 hsa-mir-8063 ncrna HGNC:50088 PROVISIONAL 8550628 MIR8065 microRNA 8065 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 5632467 5632566 + 16381832;23612084 102465867 ABBA01026817;AC005737;AMYH02031336;NR_107032 hsa-mir-8065 ncrna HGNC:49959 PROVISIONAL 8550836 MIR8068 microRNA 8068 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 28477481 28477548 - 16381832;23612084 102466876 ABBA01060955;AC013714;AMYH02024513;NR_107035 hsa-mir-8068 ncrna ENSG00000273912 HGNC:50238 PROVISIONAL 8550084 MIR8070 microRNA 8070 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11783135 11783222 - 16381832;23612084 102465870 ABBA01061142;AC104383;AMYH02024337;NR_107037 hsa-mir-8070 ncrna ENSG00000278529 HGNC:50274 PROVISIONAL 8550199 MIR8071-1 microRNA 8071-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 105621116 105621180 + 16381832;23612084 102465871 ABBA01005157;AC244664;AL928742;NR_107038 hsa-mir-8071-1 ncrna ENSG00000274172 HGNC:50041 PROVISIONAL 8550881 MIR8071-2 microRNA 8071-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 105640168 105640232 + 16381832;23612084 102466889 ABBA01005342;AL928742;NR_107059 hsa-mir-8071-2 ncrna ENSG00000277030 HGNC:49958 PROVISIONAL 8551287 MIR8072 microRNA 8072 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 123364764 123364843 - 16381832;23612084 102466877 ABBA01060420;AC137767;AC246790;NR_107039 hsa-mir-8072 ncrna ENSG00000277700 HGNC:50174 PROVISIONAL 8550209 MIR8067 microRNA 8067 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 62304658 62304734 - 16381832;23612084 102465869 ABBA01038927;AC126323;AMYH02030574;NR_107034 hsa-mir-8067 ncrna ENSG00000277919 HGNC:49934 PROVISIONAL 8550065 MIR8059 microRNA 8059 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 50768650 50768730 + 16381832;23612084 102466918 ABBA01041246;AC005921;AMYH02033600;NR_107026 hsa-mir-8059 ncrna ENSG00000278672 HGNC:50068 PROVISIONAL 8550575 MIR8069-1 microRNA 8069-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 13724189 13724274 + 16381832;23612084 102466252 AC245051;AL050303;NR_107036 MIR8069;hsa-mir-8069 APPROVED ncrna ENSG00000278618 HGNC:50262 PROVISIONAL 8550149 MIR8073 microRNA 8073 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 110340958 110341029 + 16381832;23612084 102465872 ABBA01026998;AL161773;AMYH02028708;NR_107040 hsa-mir-8073 ncrna HGNC:50131 PROVISIONAL 8551136 MIR8074 microRNA 8074 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 51206929 51207009 - 16381832;23612084 102465873 ABBA01068279;AC063977;AMYH02036378;NR_107041 hsa-mir-8074 ncrna ENSG00000278617 HGNC:50105 PROVISIONAL 8550280 MIR8075 microRNA 8075 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 113262920 113262999 + 16381832;23612084 102465874 ABBA01019864;AL136221;AMYH02028740;NR_107042 hsa-mir-8075 ncrna HGNC:50172 PROVISIONAL 8550331 MIR8077 microRNA 8077 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 42351131 42351205 + 16381832;23612084 102465875 ABBA01040846;AC011497;AMYH02036149;NR_107044 hsa-mir-8077 ncrna HGNC:50266 PROVISIONAL 8550686 MIR8078 microRNA 8078 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 112256 112339 - 16381832;23612084 102466878 ABBA01017723;AMYH02034183;AP001005;NR_107045 hsa-mir-8078 ncrna ENSG00000277521 HGNC:50102 PROVISIONAL 8549967 MIR8079 microRNA 8079 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 44196129 44196200 - 16381832;23612084 102465876 ABBA01021235;AL589745;AMYH02027951;NR_107046 hsa-mir-8079 ncrna ENSG00000276319 HGNC:50021 PROVISIONAL 8551267 MIR8081 microRNA 8081 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 106600928 106601022 + 16381832;23612084 102465995 ABBA01042806;AL512649;AMYH02021410;NR_107048 hsa-mir-8081 ncrna ENSG00000277889 HGNC:50123 PROVISIONAL 8550928 MIR8080 microRNA 8080 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 79866495 79866583 - 16381832;23612084 102465877 ABBA01075676;AC011746;AMYH02004130;NR_107047 hsa-mir-8080 ncrna ENSG00000276917 HGNC:49989 PROVISIONAL 8551277 MIR8082 microRNA 8082 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 113152282 113152362 + 16381832;23612084 102465878 ABBA01063830;AC093617;AMYH02009944;NR_107049 hsa-mir-8082 ncrna HGNC:50111 PROVISIONAL 8550918 MIR8083 microRNA 8083 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 153689705 153689793 - 16381832;23612084 102466879 ABBA01049444;AL713889;AMYH02001904;NR_107050 hsa-mir-8083 ncrna ENSG00000274940 HGNC:50211 PROVISIONAL 8551015 MIR8084 microRNA 8084 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 93029751 93029839 + 16381832;23612084 102467005 ABBA01037432;AC027242;AMYH02018411;NR_107051 hsa-mir-8084 ncrna ENSG00000277063 HGNC:50075 PROVISIONAL 8550357 MIR8076 microRNA 8076 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 113432118 113432200 - 16381832;23612084 102466253 ABBA01061653;AC112128;AMYH02007447;NR_107043 hsa-mir-8076 ncrna HGNC:49997 PROVISIONAL 8551623 MIR8086 microRNA 8086 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 28289258 28289350 - 16381832;23612084 102465880 ABBA01034380;AC022021;AMYH02022527;NR_107053 hsa-mir-8086 ncrna ENSG00000275036 HGNC:50107 PROVISIONAL 8549878 MIR8087 microRNA 8087 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 27514970 27515047 - 16381832;23612084 102465881 ABBA01060970;AC100771;AMYH02024504;NR_107054 hsa-mir-8087 ncrna ENSG00000278483 HGNC:50059 PROVISIONAL 8550647 MIR8088 microRNA 8088 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 52336557 52336642 - 16381832;23612084 102466880 ABBA01048034;AC231532;AC231759;AMYH02039386;NR_107055 hsa-mir-8088 ncrna ENSG00000275335 HGNC:50167 PROVISIONAL 2290239 MIR873 microRNA 873 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 p21.1 28817754 28817830 - 28888877 28888953 - 28888879 28888955 - 6480464 16381832;16954537;17604727 100126316 ABBA01065120;AL158072;AMYH02019374;NR_030618 MIRN873;hsa-mir-873 APPROVED ncrna HGNC:33663 PROVISIONAL 2290213 MIR874 microRNA 874 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q31.2 133106035 133106112 - 136983261 136983338 - 137647572 137647649 - 6480464 16381832;17604727;17616659;19240791;23034410;23558898;23583374 100126343 ABBA01068707;AC106775;AMYH02012272;NG_032569;NR_030588 MIRN874;hsa-mir-874 APPROVED ncrna HGNC:33643 VALIDATED 2290245 MIR875 microRNA 875 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q22.2 96734748 96734823 - 100549014 100549089 - 99536786 99536861 - 6480464 16381832;17604727 100126309 ABBA01037556;AC026827;AMYH02018493;NR_030596 MIRN875;hsa-mir-875 APPROVED ncrna ENSG00000216069 HGNC:33652 PROVISIONAL 2290241 MIR877 microRNA 877 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 p21.33 32150226 32150311 + 30552109 30552194 + 30584332 30584417 + 6480464 16381832;16954537;17604727;17964270 100126314 ABBA01038049;AL662800;AL662825;AMYH02013437;BX000357;BX119957;BX927220;CR753328;CR759778;NR_030615 MIRN877;hsa-mir-877;miRNA877 APPROVED ncrna HGNC:33660 611619 PROVISIONAL 2290209 MIR887 microRNA 887 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 p15.1 15958953 15959031 + 15935291 15935369 + 15935182 15935260 + 6480464 16381832;16954537;17604727;23034410 100126347 ABBA01020654;AC091872;AMYH02010914;NR_030616 MIRN887;hsa-mir-887 APPROVED ncrna HGNC:33661 PROVISIONAL 8550957 MIR8085 microRNA 8085 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 44758657 44758721 + 16381832;23612084 102465879 ABBA01040882;AC092066;AMYH02036180;NR_107052 hsa-mir-8085 ncrna HGNC:50120 PROVISIONAL 8550229 MIR8089 microRNA 8089 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 181043403 181043484 - 16381832;23612084 102465882 ABBA01010089;AC091874;AMYH02012915;NR_107056 hsa-mir-8089 ncrna ENSG00000277912 HGNC:50196 PROVISIONAL 2290248 MIR888 microRNA 888 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145388688 145388764 - 145076302 145076378 - 145994784 145994860 - 16381832;17604727;24480745 100126306 ABBA01054351;AL445258;AMYH02040719;NR_030592 MIRN888;hsa-mir-888 APPROVED ncrna ENSG00000216005 HGNC:33648 PROVISIONAL 2290211 MIR889 microRNA 889 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81570295 81570373 + 101514238 101514316 + 101047901 101047979 + 16381832;17604727;23034410 100126345 ABBA01048514;AL132709;AMYH02029867;NR_030595 MIRN889;hsa-mir-889 APPROVED ncrna HGNC:33651 PROVISIONAL 2290250 MIR890 microRNA 890 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145388179 145388255 - 145075793 145075869 - 145994275 145994351 - 6480464 16381832;17604727 100126303 ABBA01054351;AL445258;AMYH02040719;NR_030589 MIRN890;hsa-mir-890 APPROVED ncrna ENSG00000216075 HGNC:33644 PROVISIONAL 2290249 MIR891B microRNA 891b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145394957 145395035 - 145082571 145082649 - 146001053 146001131 - 16381832;17604727 100126304 ABBA01054350;AL445258;AMYH02040720;NR_030590 MIRN891B APPROVED ncrna ENSG00000216064 HGNC:33645 PROVISIONAL 2290247 MIR892B microRNA 892b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145391102 145391178 - 145078716 145078792 - 145997198 145997274 - 16381832;17604727 100126307 ABBA01054351;AL445258;AMYH02040720;NR_030593 2185867 RH12068 MIRN892B APPROVED ncrna ENSG00000216098 HGNC:33649 PROVISIONAL 2290214 MIR892A microRNA 892a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145390573 145390647 - 145078187 145078261 - 145996669 145996743 - 16381832;17604727;22470100 100126342 ABBA01054351;AL445258;AMYH02040720;NR_030584 2185867 RH12068 MIRN892A APPROVED ncrna ENSG00000215943 HGNC:33639 PROVISIONAL 2290221 MIR885 microRNA 885 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p25.3 10371636 10371709 - 10436173 10436246 - 10394489 10394562 - 16381832;16954537;17604727;21233845;21687927;23271051 100126334 ABBA01025234;AC090841;AMYH02006258;NR_030614 MIRN885;hsa-mir-885 APPROVED ncrna HGNC:33659 PROVISIONAL 2290244 MIR876 microRNA 876 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 p21.1 28792502 28792582 - 28863624 28863704 - 28863626 28863706 - 6480464 16381832;17604727 100126310 ABBA01065120;AL158072;AMYH02019372;NR_030597 MIRN876;hsa-mir-876 APPROVED ncrna ENSG00000215966 HGNC:33653 PROVISIONAL 8551643 MIR892C microRNA 892c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 145992750 145992826 - 16381832;22313525 102466721 ABBA01054351;AL445258;AMYH02040719;NR_106783 hsa-mir-892c ncrna ENSG00000252219 HGNC:50194 PROVISIONAL 2290215 MIR891A microRNA 891a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145421699 145421777 - 145109312 145109390 - 146027794 146027872 - 6480464 16381832;17604727;23034410 100126341 ABBA01054347;AL358174;AMYH02040720;NR_030581 MIRN891A APPROVED ncrna ENSG00000216056 HGNC:33635 PROVISIONAL 1347128 MIR9-2 microRNA 9-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q14.3 83855628 83855714 - 87962671 87962757 - 88666853 88666939 - 6480464 12007417;16381832;17604727;20022054;20167074;20624818;21368052;21858175;21931274;22407312;23459718;23547834;24332650 407047 ABBA01062136;AC026701;AMYH02011760;NR_030741 2117767 A008L33 MIRN9-2;hsa-mir-9-2;miRNA9-2 APPROVED ncrna ENSG00000273878 HGNC:31642 611187 PROVISIONAL 2290207 MIR921 microRNA 921 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q24.1 139229347 139229402 - 166123980 166124035 - 166154743 166154798 - 6480464 16381832;17573847;23133646 100126349 ABBA01047267;AL596087;AMYH02002074;NR_030626 MIRN921;hsa-mir-921 APPROVED ncrna HGNC:33671 PROVISIONAL 1350966 MIR9-1 microRNA 9-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q22 129463062 129463150 - 156390133 156390221 - 156420341 156420429 - 6480464 12007417;16381832;17604727;18686603;19289835;19531230;19702828;19954362;20102618;20124485;20167074;20173740;20362537;20676129;20806079;20947512;21225631;21464588;21562850;21569708;21858175;21931274;22122052;22703336;22773185;22805145;22840390;22987275;23135476;23169479;23185366;23291181;23459718;23547834;24002436;24007463;24043603;24143176;24346283 407046 ABBA01016658;AL139130;AMYH02001971;NR_029691 MIRN9-1;hsa-mir-9-1;miRNA9-1 APPROVED ncrna HGNC:31641 611186 PROVISIONAL 2290234 MIR922 microRNA 922 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q29 196018061 196018141 - 197401367 197401447 - 197674496 197674576 - 16381832;17573847;23077021 100126321 ABBA01007570;AC024560;AMYH02008521;NG_034153;NR_030627 MIRN922;hsa-mir-922 APPROVED ncrna ENSG00000216042 HGNC:33672 PROVISIONAL 2290235 MIR920 microRNA 920 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 p12.1 29512153 29512227 + 24365355 24365429 + 24212421 24212495 + 6480464 16381832;17573847;19048628;19931512 100126320 ABBA01068001;AC087322;AMYH02026206;NG_029612;NR_030625 MIRN920;hsa-mir-920 APPROVED ncrna ENSG00000216192 HGNC:33670 VALIDATED 2290233 MIR923 microRNA 923 q12 100126322 AC022916 MIRN923;hsa-mir-923 miscrna HGNC:33673 1347660 MIR92A2 microRNA 92a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133690401 133690475 - 133303568 133303642 - 134169538 134169612 - 6480464 11914277;12554860;12919684;15183728;15325244;15978578;16381832;17604727;17616659;20347265;20548249;22563438;22772712;22890560 407049 ABBA01042404;AC002407;AF480564;AMYH02040525;NR_029509 MIRN92-2;MIRN92A-2;MIRN92A2 APPROVED ncrna ENSG00000208034 HGNC:31644 PROVISIONAL 1346101 MIR92A1 microRNA 92a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This miRNA belongs to a polycistronic miRNA cluster that includes six consecutive mature miRNAs that are derived from a single primary transcript. The mature miRNAs of this cluster are often overexpressed in solid cancers. [provided by RefSeq, May 2012] 13 13 13 q31.3 72850539 72850616 + 92003568 92003645 + 91351314 91351391 + 6480464 11914277;12554860;12919684;15126345;15183728;15325244;15978578;16381832;17604727;17616659;18632605;19950226;20347265;21383985;21768538;21883694;21955497;22153007;22563438;22617246;22895567;23355465;23499550;23625654;23681423;23963852;24650666 407048 AB176708;ABBA01027235;AF480530;AF480563;AL162375;AMYH02028470;NG_032702;NR_029508 Hs.24115 1668059;1721341 G59670;RH45064 MIR92-1;MIRN92-1;MIRN92A-1;MIRN92A1;miRNA92-1 APPROVED ncrna ENSG00000276018 HGNC:31643 609422 REVIEWED 2312875 MIR92B microRNA 92b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q22 128238250 128238345 + 155164968 155165063 + 155195177 155195272 + 6480464;8554872 16381832;16505370;17604727;17616659;18624795;21030610;23416699;23892108;24099768;24162673;24325785 693235 ABBA01016713;AC234582;AL713999;AMYH02001941;NG_029383;NR_030281 MIRN92B;hsa-mir-92b APPROVED ncrna ENSG00000271748 HGNC:32920 VALIDATED 1345298 MIR9-3 microRNA 9-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q26.1 66313666 66313755 + 89911248 89911337 + 89368017 89368106 + 6480464 12007417;16381832;17604727;20167074;20676129;21368052;21858175;21917081;21931274;22282464;22703336;23459718;23547834;24356455;24373626 407051 ABBA01053008;AC133637;AMYH02031019;NR_029692 MIRN9-3;hsa-mir-9-3;miRNA9-3 APPROVED ncrna ENSG00000207819 HGNC:31646 611188 PROVISIONAL 1344413 MIR93 microRNA 93 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q22.1 94426050 94426129 - 99691391 99691470 - 100093768 100093847 - 6480464;8554872 11914277;12554860;15325244;15978578;16381832;17604727;17616659;18328430;18974142;19486339;19671678;20167074;20519629;20889907;20956944;21402054;21831295;21959981;22180714;22465665;22467200;22581829;22685420;22773266;22999472;23111389;23354160;23493574;23509296;23525285;23611780;23679328;24036151;24433094;24721397 407050 ABBA01013238;AC073842;AF480531;AF480565;AF480566;AMYH02016371;CH236956;NR_029510 MIRN9;MIRN93;hsa-mir-93;miR-93 APPROVED ncrna HGNC:31645 612984 PROVISIONAL 2290206 MIR933 microRNA 933 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q31.1 169645912 169645988 - 176032361 176032437 - 175167633 175167709 - 16381832;17616659 100126350 ABBA01062204;AC096649;AMYH02005285;NR_030630 MIRN933;hsa-mir-933 APPROVED ncrna ENSG00000215973 HGNC:33676 PROVISIONAL 2290230 MIR935 microRNA 935 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51525232 51525322 + 54485561 54485651 + 53982307 53982397 + 16381832;17616659 100126325 ABBA01068182;AC008440;AMYH02036441;NR_030632 1801818;1844586 ECD01790;ECD23507 MIRN935;hsa-mir-935 APPROVED ncrna HGNC:33678 PROVISIONAL 2290218 MIR937 microRNA 937 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q24.3 141208030 141208115 - 144895127 144895212 - 143812957 143813042 - 16381832;17616659 100126338 ABBA01005240;AC105219;AMYH02018948;NG_030583;NR_030633 MIRN937;hsa-mir-937 APPROVED ncrna HGNC:33680 VALIDATED 2290232 MIR924 microRNA 924 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 q12.3 34013724 34013776 - 37202087 37202139 - 39622123 39622175 - 16381832;17573847 100126323 ABBA01022393;AC099845;AMYH02034589;NR_030628 MIRN924;hsa-mir-924 APPROVED ncrna HGNC:33674 PROVISIONAL 2290231 MIR934 microRNA 934 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 135996684 135996766 + 135633037 135633119 + 136550878 136550960 + 6480464 16381832;17616659 100126324 ABBA01055922;AMYH02040579;NR_030631;Z97632 MIRN934;hsa-mir-934 APPROVED ncrna HGNC:33677 PROVISIONAL 2290205 MIR939 microRNA 939 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q24.3 141793823 141793904 - 145619364 145619445 - 144394149 144394230 - 6480464;8554872 16381832;17616659;21141477;22451906 100126351 ABBA01005207;AC233992;AF205589;AMYH02019005;NR_030635 MIRN939;hsa-mir-939 APPROVED ncrna HGNC:33682 PROVISIONAL 2290227 MIR940 microRNA 940 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.3 2536177 2536270 + 2321748 2321841 + 2271747 2271840 + 6480464 16381832;17616659 100126328 ABBA01030267;AC009065;AMYH02031249;NR_030636 MIRN940;hsa-mir-940 APPROVED ncrna ENSG00000274753 HGNC:33683 PROVISIONAL 2290228 MIR938 microRNA 938 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 p11.23 29656197 29656279 - 29891193 29891275 - 29602264 29602346 - 16381832;17616659;22537748 100126327 ABBA01034363;AL160060;AMYH02022549;NG_033998;NR_030634 MIRN938;hsa-mir-938 APPROVED ncrna HGNC:33681 VALIDATED 2290224 MIR942 microRNA 942 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p13.1 115865873 115865958 + 117637265 117637350 + 117094643 117094728 + 6480464 16381832;17616659;23034410 100126331 ABBA01068499;AL391476;AMYH02001796;NR_030640 MIRN942;hsa-mir-942 APPROVED ncrna HGNC:33688 PROVISIONAL 2290223 MIR943 microRNA 943 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 p16.3 1900343 1900438 - 1988111 1988204 - 1986384 1986477 - 16381832;17616659 100126332 ABBA01029524;AL132868;AMYH02008596;NR_030641 MIRN943;hsa-mir-943 APPROVED ncrna HGNC:33689 PROVISIONAL 2290229 MIR936 microRNA 936 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q25.1 99548528 99548625 - 105807847 105807944 - 104048089 104048186 - 6480464;8554872 16381832;17616659 100126326 ABBA01063087;AL138761;AMYH02023733;NR_030760 MIRN936;hsa-mir-936 APPROVED ncrna HGNC:33679 PROVISIONAL 2290216 MIR944 microRNA 944 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q28 187975158 187975245 + 189547711 189547798 + 189829922 189830009 + 16381832;17616659 100126340 ABBA01058341;AC063939;AMYH02008400;NR_030642 MIRN944;hsa-mir-944 APPROVED ncrna HGNC:33690 PROVISIONAL 2290204 MIR941-3 microRNA 941-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 q13.33 62551085 62551201 + 63919732 63919848 + 16381832;17616659;19784364;23535732 100126352 ABBA01021431;AL118506;AMYH02037476;NG_029805;NG_032854;NR_030639 MIRN941-3 APPROVED ncrna HGNC:33686 VALIDATED 2290226 MIR941-1 microRNA 941-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 59235301 59235357 + 62550778 62550894 + 63919425 63919541 + 16381832;17616659;19784364;23535732 100126329 ABBA01021431;AL118506;AMYH02037476;NG_029805;NG_032854;NR_030637 MIRN941-1 APPROVED ncrna HGNC:33684 REVIEWED 2290225 MIR941-4 microRNA 941-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 q13.33 62551197 62551313 + 63919844 63919960 + 16381832;17616659;19784364;23535732 100126330 ABBA01021431;AL118506;NG_029805;NG_032854;NR_040032 MIRN941-4 APPROVED ncrna HGNC:33687 REVIEWED 2290217 MIR941-2 microRNA 941-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 59234770 59234858 + 62550890 62551006 + 63919537 63919653 + 16381832;17616659;19784364;23535732 100126339 ABBA01021431;AL118506;AMYH02037476;NG_029805;NG_032854;NR_030638 MIRN941-2 APPROVED ncrna HGNC:33685 REVIEWED 1346798 MIR95 microRNA 95 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 7906745 7906825 - 8007028 8007108 - 8005301 8005381 - 6480464 11914277;16381832;17604727;22690071;23034410;24145350 407052 ABBA01008684;AC097381;AF480533;AF480567;AMYH02008693;NR_029511 MIRN95;hsa-mir-95;miR-95 APPROVED ncrna HGNC:31647 613185 PROVISIONAL 1349808 MIR99A microRNA 99a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 21 q21.1 3081546 3081626 + 17911409 17911489 + 16539089 16539169 + 6480464 11914277;16381832;17604727;17616659;21212412;21383697;21687694;21785383;21878637;22024720;22920721;23173671;23292834;23298836;23409016;23503464;23724047;23893385;23915977;24030073;24410957;24503111;24957100 407055 ABBA01057101;AF480537;AF480571;AMYH02037542;AP000962;NR_029514 MIRN99A APPROVED ncrna ENSG00000207638 HGNC:31650 614509 PROVISIONAL 1351824 MIR99B microRNA 99b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.41 49245400 49245469 + 52195865 52195934 + 51692612 51692681 + 6480464 12007417;12919684;15634332;15978578;16381832;17604727;17616659;20889907;21212412;22232059;23724047 407056 ABBA01068265;AC018755;AMYH02036391;NR_029843 MIRN99B APPROVED ncrna ENSG00000207550 HGNC:31651 614510 PROVISIONAL 1344903 MIRLET7A2 microRNA let-7a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q24.1 119177905 119177976 - 122017230 122017301 - 122146522 122146593 - 6480464 11679670;12554860;14573789;15183728;15325244;16381832;17437991;17604727;17616659;17989717;19015728;20158877;20889907;21365266;23566834;23860321 406882 ABBA01031297;AJ421725;AMYH02025697;AP001359;NR_029477 LET7A2;MIRNLET7A2;let-7a-2 APPROVED ncrna ENSG00000198975 HGNC:31477 612142 PROVISIONAL 1351648 MIR99AHG mir-99a-let-7c cluster host gene (non-protein coding) INTERACTS WITH (+)-catechin; aflatoxin B1; all-trans-retinoic acid 21 21 21 q21.1 2613111 3152282 + 17442842 17982094 + 16070522 16609775 + 6480464 10830953;12036298;12477932;14702039;19913121;20379614;20628086;20732626;23144326;23251661;25027842;8889548 388815 A1L4M7;Q8TDA7 ABBA01057095;ABBA01057096;ABBA01057097;ABBA01057098;ABBA01057099;ABBA01057100;ABBA01057101;AF486622;AK095614;AL700268;AMYH02037536;AMYH02037537;AMYH02037538;AMYH02037539;AMYH02037540;AMYH02037541;AMYH02037542;AMYH02037543;AMYH02037544;AP000473;AP000962;AP001172;AP001343;AP001344;AP001346;BC130602;BC130606;CF135136;CF135139;CH471079;CN313455;HG511579;HG511580;HG511581;HG511582;HG511583;HG511584;HG511585;HG511586;HG511587;HG511588;HG511589;HG511590;HG511592;HG511593;HG511594;HG511595;KC877769;KC877774;KC877778;KC877779;KC877780;KC877785;KC877786;KC877792;KC877794;KF454942;KF457019;KF457020;KF457025;KF510484;KF511327;KF511330;NR_027790;NR_027791;NR_111004;NR_111005 A1L4M7;AAI30603;AAI30607;AAL92104;EAX10037;EAX10039 Hs.473394 1340142;1665969;1678269;1678879;1681318;1687884;1689901;1721949;1732115;1748583;1750979;1784424;1855258;2137679;2137681;2156439 D21S173;D21S1886;D21S1962;G34566;G35305;G59859;RH45651;RH65194;RH65394;RH91873;RH93002;SHGC-104918;SHGC-110244;SHGC-112012;SHGC-36273;SHGC-52033 C21orf34;C21orf35;FLJ38295;LINC00478;MONC APPROVED ncrna ENSG00000215386 HGNC:1274 10746 615964 VALIDATED 1353923 MIRLET7A3 microRNA let-7a-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q13.31 30416003 30416076 + 46508629 46508702 + 46112749 46112822 + 8554872 11679670;12554860;14573789;15183728;15325244;16381832;17437991;17604727;17616659;17974952;17989717;20158877;20808284;20809749;22348059;24138945;24703161 406883 ABBA01010438;AJ421726;AL049853;AMYH02038531;FP325332;NR_029478 LET7A3;MIRNLET7A3;let-7a-3 APPROVED ncrna HGNC:31478 612143 PROVISIONAL 1349367 MIR96 microRNA 96 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. The microRNA encoded by this gene has been shown to down-regulate production of FOXO1, FOXO3, and microphthalmia-associated transcription factor-M, resulting in metastasis of certain tumors. Also, point mutations in the seed region of this microRNA are a cause of autosomal dominant, progressive hearing loss. [provided by RefSeq, Mar 2010] 7 7 7 q32.2 124210277 124210354 - 129414532 129414609 - 129774692 129774769 - 6480464;7240710;8699517;8554872 11914277;14757864;16381832;17597072;17604727;17616659;19363479;19574223;19943878;20301607;20610624;21203424;21829531;21993544;22038834;22045813;22414602;22441842;22761336;22864280;23151657;23262295;23459944;23583389;23637338;23752186;23906647;23951320;24260486;24277930;24366472 407053 ABBA01057625;AC084864;AF480534;AF480568;AMYH02016740;CH236950;NG_023385;NR_029512 DFNA50;MIRN96;hsa-mir-96;miR-96;miRNA96 APPROVED ncrna ENSG00000199158 HGNC:31648 611606;613074 REVIEWED 1344194 MIR98 microRNA 98 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.22 57414753 57414871 - 53583184 53583302 - 53556223 53556341 - 6480464 11914277;16381832;17604727;17616659;19592657;19671678;20486857;21228813;21880462;22282338;22492871;22867052;23188821;23211491;23434382;23575983;24392454;24771265 407054 ABBA01056435;AC231658;AF480536;AF480570;AL592046;AMYH02039468;NG_016261;NR_029513 MIRN98;hsa-mir-98;miR-98 APPROVED ncrna HGNC:31649 300810 PROVISIONAL 1348805 MIRLET7B microRNA let-7b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q13.31 30416940 30417022 + 46509566 46509648 + 46113686 46113768 + 6480464;8554872 11679670;14573789;15325244;16381832;17437991;17604727;17616659;20130213;22022355;22294324;22334139;22391672;22610069;22761738;22821209;22918121;23029111;23236408;23249809;23437218;23798998;23825028;24237608;24264599;24282149;24326307 406884 ABBA01010438;AJ421727;AL049853;AMYH02038531;FP325332;NR_029479 LET7B;MIRNLET7B;hsa-let-7b;let-7b APPROVED ncrna ENSG00000207875 HGNC:31479 611249 PROVISIONAL 2304161 MIRLET7BHG MIRLET7B host gene (non-protein coding) ASSOCIATED WITH Melanoma (inferred) 22 22 22 q13.31 30389490 30417182 + 46481877 46509808 + 46085997 46113928 + 8554872 14702039;15364908;24381249;8889548 400931 Q6ZNQ0 ABBA01010438;AK023424;AK130875;AL049853;AL121672;AMYH02038530;AMYH02038531;BU732454;CH471138;FP325332;LN608953;LN608954;NR_027033;NR_110479 BAC85451;CAI22452;CAO72107;CAO72109;EAW73398;EAW73399 Hs.235838 1650371;1707388;1707496;5021872;5022200;5022651;5116670 D11S2921;L18426;SHGC-84478;SHGC-84548;WI-17620;sY3084;sY3122 FLJ27365;RP4-695O20__B.10;linc-Ppara APPROVED ncrna ENSG00000197182 HGNC:37189 16929 VALIDATED 6482972 MIRLET7DHG MIRLET7D host gene (non-protein coding) 9 9 9 q22.32 67380296 67463654 - 96938851 96966848 - 94176569 94204566 - 12477932;15364901 158257 ABBA01017675;ABBA01017676;AL158152;AL691447;AMYH02021252;AMYH02021253;AMYH02021254;BC036695;BC045813;BX088742;HG502253;HG502254;NR_046163;NR_046165 Hs.652626 1680076;1737715;1854219;2124485 A008R29;D11S3310;G35335;RH94017 ncrna ENSG00000230262 HGNC:37186 VALIDATED 1343706 MIRLET7D microRNA let-7d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 67382672 67382758 + 96941116 96941202 + 94178834 94178920 + 6480464 11679670;15325244;16381832;17437991;17604727;17616659;20158877;20410187;20889907;21618519;21725603;22722712 406886 ABBA01017676;AJ421729;AL158152;AMYH02021252;NR_029481 1680076;1854219 A008R29;RH94017 LET7D;MIRNLET7D;hsa-let-7d;let-7d APPROVED ncrna ENSG00000199133 HGNC:31481 612145 PROVISIONAL 1350549 MIRLET7F1 microRNA let-7f-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 67380185 67380271 + 96938629 96938715 + 94176347 94176433 + 11679670;14573789;15325244;16381832;17437991;17604727;17616659;20158877;21447718;21508257;22223664;22262659;24223734 406888 ABBA01017676;AJ421731;AL158152;AMYH02021252;NR_029483 LET7F1;MIRNLET7F1;let-7f-1 APPROVED ncrna HGNC:31483 612146 PROVISIONAL 1352382 MIRLET7E microRNA let-7e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.41 49245574 49245652 + 52196039 52196117 + 51692786 51692864 + 6480464 11679670;15325244;16381832;17437991;17604727;17616659;20158877;21969366;22262659 406887 ABBA01068265;AC018755;AJ421730;AMYH02036391;NR_029482 LET7E;MIRNLET7E;hsa-let-7e;let-7e APPROVED ncrna HGNC:31482 611250 PROVISIONAL 1347408 MIRLET7F2 microRNA let-7f-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.22 57415722 57415804 - 53584153 53584235 - 53557192 53557274 - 6480464 11679670;14573789;15325244;16381832;17437991;17604727;17616659;20158877;21508257;24223734 406889 ABBA01056435;AC231658;AJ421732;AL592046;AMYH02039468;NG_016261;NR_029484 1705160 SHGC-80022 LET7F2;MIRNLET7F2;let-7f-2 APPROVED ncrna HGNC:31484 300721 PROVISIONAL 1347279 MIRLET7A1 microRNA let-7a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 67379795 67379874 + 96938239 96938318 + 94175957 94176036 + 11679670;12554860;14573789;15183728;15325244;16381832;16651716;17220301;17437991;17604727;17616659;17660297;17957144;17989717;18403645;19126550;19136928;19153603;19304520;19508234;19602040;19787239;19878981;19966857;20158877;20167074;20418948;20460640;20486857;20607356;20639884;20651244;20848182;21045151;21057545;21109987;21349817;21412931;21468030;21468581;21530489;21598109;21602527;21616524;21654684;21814544;21826373;21841313;21853155;21873975;21994416;22014978;22018986;22022355;22128589;22139073;22155254;22157959;22289526;22336344;22366686;22584434;22586040;22596182;22965940;22972404;23042116;23134218;23166734;23246221;23339187;23519840;23769985;23774216;23884650;23974362;24105413;24172884;24282149;24284400;24393345;24563463;24602972 406881 ABBA01017676;AJ421724;AL158152;AMYH02021252;NR_029476 LET7A1;MIRNLET7A1;let-7a-1 APPROVED ncrna ENSG00000199165 HGNC:31476 605386 PROVISIONAL 1345563 MIRLET7C microRNA let-7c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 21 q21.1 3082285 3082368 + 17912148 17912231 + 16539828 16539911 + 6480464 11679670;14573789;16381832;17437991;17604727;17616659;19289845;19372056;20158877;21166724;22024720;22128178;22289550;22452878;22479342;22835429;22917031;22964640;23034410;23503464;23534758;23562878;23850892;23981581;24282149;24503111;24704393 406885 ABBA01057101;AJ421728;AMYH02037542;AP000962;NR_029480 LET7C;MIRNLET7C;hsa-let-7c;let-7c APPROVED ncrna ENSG00000199030 HGNC:31480 612144 PROVISIONAL 1344572 MIRLET7G microRNA let-7g microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.1 52281606 52281689 - 52302294 52302377 - 52268278 52268361 - 6480464 12007417;16381832;17604727;17616659;18550544;19153603;20158877;20309945;21464588;21618519;21815640;21868760;22135361;22157959;22821209;22871741;22910415;22956623;23063642;23305858;23820752;23974872;24093444;24252910 406890 ABBA01024510;AC092045;AMYH02006799;NR_029660 LET7G;MIRNLET7G;hsa-let-7g APPROVED ncrna HGNC:31485 612102 PROVISIONAL 1603107 MIRN565 microRNA 565 693150 AC098476 hsa-mir-565 miscrna HGNC:32821 1352002 MIRN321 microRNA 321 407038 HGNC:31633 1603112 MIRN560 microRNA 560 693145 AC097532 hsa-mir-560 miscrna HGNC:32816 1348497 MIRLET7I microRNA let-7i microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q14.1 62666013 62666096 + 62997466 62997549 + 62603686 62603769 + 6480464 11679670;12007417;16381832;17437991;17604727;17616659;17989717;19903813;20158877;21625861;22210895;23107361;23454123;23509825;23607629;24326307 406891 ABBA01026631;AC048341;AMYH02026635;NR_029661 LET7I;MIRNLET7I;hsa-let-7i APPROVED ncrna HGNC:31486 612148 PROVISIONAL 6480822 MIS18A-AS1 MIS18A antisense RNA 1 q22.11 11329013 100874202 AP000266;BG209386 APPROVED ncrna HGNC:40106 2290257 MIRN801 microRNA 801 768223 AL840644 hsa-mir-801 miscrna HGNC:33144 1602187 MITD1 MIT, microtubule interacting and transport, domain containing 1 ENCODES a protein that exhibits phosphatidylinositol binding; protein domain specific binding; protein homodimerization activity; INVOLVED IN cytokinetic cell separation; mitotic cytokinesis; mitotic cytokinetic cell separation; FOUND IN extracellular vesicular exosome; extrinsic component of membrane; intracellular membrane-bounded organelle; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; cyclosporin A 2 2 2 q11.2 93990319 94002087 - 99785726 99797524 - 99169263 99181035 - 6480464 12477932;15489334;15815621;16730941;17207965;18029348;19056867;20195357;21674799;21926972;22190034;23015756;23045692 129531 B8ZZL5;F8WED5;H7C3Q6;Q8WV92 ABBA01073951;AC092587;AL161992;AMYH02004398;BC018453;CH471127;CQ859758;NM_138798;XM_006712257 AAH18453;AAX88928;ADQ31824;CAH10777;CAH25929;EAX01884;EAX01885;EAX01886;EAX01887;NP_620153;Q8WV92;XP_006712320 Hs.14222 5016478;5017266;5022651 D11S2921;GDB:434012;L18506 MIT domain-containing protein 1;OTTHUMP00000161218;OTTHUMP00000203297;OTTHUMP00000203468 protein-coding ENSG00000158411 HGNC:25207 14044 PROVISIONAL 2290259 MIRN768 microRNA 768 768221 AC010653 hsa-mir-768 miscrna HGNC:33142 1313558 MIS18BP1 MIS18 binding protein 1 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN CENP-A containing nucleosome assembly (inferred); mitotic nuclear division (inferred); nucleosome assembly (inferred); FOUND IN chromosome, centromeric region (inferred); nucleoplasm (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene diol epoxide I; calcitriol 14 14 14 q21.2 25533645 25583858 - 45672393 45722714 - 45203190 45253507 - 6480464 10976766;11572484;12477932;14702039;15489334;16565220;17081983;17199038;17339379;18029348;19322201;20211142;21139048;21693764;21890473;21906983;21963094;22505724;22540025;23000965 55320 C9J2Q8;G5E9K5;H0YJM1;H7C1S6;Q6P0N0 AB067490;ABBA01018052;AJ242977;AK002048;AL121809;AMYH02029102;AW971491;BC051885;BC065544;CH471078;NM_018353;XM_005267833 AAH51885;AAH65544;BAB67796;CAB45134;EAW65777;EAW65778;EAW65779;EAW65780;NP_060823;Q6P0N0;XP_005267890 Hs.732769 1648908;1682818;1695358;1699228;1770544;1852954;2151696;2171217;2185060;5019821;5093428 A009O38;A009Y19;G32712;G32981;G35685;G36123;RH103195;RH46134;RH46491;RH93554;SHGC-68278 C14orf106;FLJ11186;HSA242977;KIAA1903;KNL2;M18BP1;P243;hsKNL-2 OTTHUMP00000178917;kinetochore null 2 homolog;kinetochore-associated protein KNL-2 homolog;mis18-binding protein 1;putative protein p243 which interacts with transcription factor Sp1 APPROVED protein-coding ENSG00000129534 HGNC:20190 12629 VALIDATED 1317766 MISP mitotic spindle positioning ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN mitotic nuclear division (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction (inferred); cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-); arsenous acid 19 19 19 p13.3 52059 65229 - 750910 764318 + 750910 764318 + 737633;6480464;8554872 12477932 15489334;16083285;16565220;17081983;19170763;20360068;21139048;23509069;23574715;24189493;24475924 126353 Q8IVT2 ABBA01002588;AC004030;AMYH02035121;BC042125;BC052236;BX648389;BX648815;CH471242;NM_173481;XM_005259493 AAH42125;AAH52236;EAW61160;NP_775752;Q8IVT2;XP_005259550 Hs.439180 1665820 RH48642 C19orf21;DKFZp686H18209 caprice;hypothetical protein LOC126353;mitotic interactor and substrate of Plk1;mitotic spindle positioning protein;uncharacterized protein C19orf21 APPROVED protein-coding ENSG00000099812 HGNC:27000 12695 615289 PROVISIONAL 1321877 MIS18A MIS18 kinetochore protein A INVOLVED IN CENP-A containing nucleosome assembly (inferred); chromosome segregation (inferred); mitotic nuclear division (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one; aflatoxin B1 21 21 21 q22.11 18824051 18834897 - 33640530 33651376 - 32268219 32279065 - 6480464 10773462;10830953;11001876;12036298;12477932;15489334;15881666;16303743;17043677;17199038;17207965;18029348;21139048;21890473;21906983;21963094;21988832;22505724;23000965;24250222;24816145 54069 Q9NYP9 ABBA01057312;AF231921;AF387845;AK075281;AK312073;AMYH02037722;AP000266;AW962893;BC042917;BU567844;BU616573;BU623181;CB959520;CH471079;CQ783409;NM_018944 AAF72945;AAH42917;AAK70498;ADQ32885;BAC11517;BAG35009;CAF86614;EAX09881;NP_061817;Q9NYP9 Hs.190518 1657534;1699338;2127535;2130500 RH103256;SHGC-64862;SHGC-87596;STS-W72814 B28;C21orf45;C21orf46;FASP1;MIS18alpha;hMis18alpha FAPP1-associated protein 1;MIS18 kinetochore protein homolog A;OTTHUMP00000107699;protein Mis18-alpha APPROVED protein-coding ENSG00000159055 HGNC:1286 10749 VALIDATED 7365700 MKI67P1 marker of proliferation Ki-67 pseudogene 1 X X X p11 50612577 50614025 - 46420735 46422183 - 46561300 46562748 - 20580447;20587907 100271918 ABBA01052226;AL022165;AMYH02039258;NG_011647 pseudo HGNC:49230 INFERRED 1346036 MIS12 MIS12 kinetochore complex component INVOLVED IN chromosome segregation; kinetochore assembly; FOUND IN MIS12/MIND type complex; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; benzo[a]pyrene diol epoxide I 17 17 17 p13.2 5406624 5410507 + 5389694 5394134 + 5486374 5490814 + 1580863;6480464 11076863;11230166;11256614;12477932;12515822;14702039;15371340;15489334;15489336;15502821;15824131;16344560;16381901;16585270;17981135;20231385;20360068;20404110;20562864;21139048;21199919;21353556;21875947;22371557;22869522;24530301 79003 A8K1M4;I3L244;I3L4K6;Q9H081 ABBA01054816;AC004148;AC055839;AK056072;AK289939;AL136906;AMYH02032859;BC000229;CH471108;CR533460;DA182670;DA964146;DB258115;NM_001258217;NM_001258218;NM_001258219;NM_001258220;NM_024039;XM_005256797;XM_005256798;XM_006721575 AAH00229;BAF82628;CAB66840;CAG38491;CAL37850;CAL38435;EAW90328;NP_001245146;NP_001245147;NP_001245148;NP_001245149;NP_076944;Q9H081;XP_005256854;XP_005256855;XP_006721638 Hs.267194 1664712;1847968;2170659 A003N29;A004F08;SHGC-36031 2510025F08Rik;KNTC2AP;MGC2488;MTW1;hMis12 MIS12 homolog;MIS12, MIND kinetochore complex component, homolog;MIS12, MIND kinetochore complex component, homolog (yeast);OTTHUMP00000128206;homolog of yeast Mis12;mis12 homolog (yeast) APPROVED protein-coding ENSG00000167842 HGNC:24967 12379 609178 VALIDATED 1318801 MKKS McKusick-Kaufman syndrome This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] 20 20 20 p12 10455827 10484860 - 10385428 10414887 - 10404780 10434239 - 1581208;1582516;1580863;1601414;6480464;7240710;8554872;8699517 10973251;12107442;15483080 10802661;10973238;11076863;11179009;11230166;11256614;11567139;11780052;12477932;12837689;15489336;15731008;16169070;16327777;16344560;16381901;17003356;17353931;18029348;18094050;18813213;19077438;19247371;19876004;19913121;20193073;20301537;20301675;20301743;20472660;20628086;20801516;21270763;21832049;22500027;23671934;23716571;24250222;9467007 8195 B7Z3W9;Q9HB66;Q9NPJ1 ABBA01053932;AF075024;AF221992;AF221993;AF275813;AK025741;AK291925;AK296439;AL034430;AL157427;AMYH02036698;BC009180;BC013287;BC028973;BM019257;CH471133;DA209180;KF456819;NG_009109;NM_018848;NM_170784;NR_072977 AAF73872;AAF73873;AAG23823;AAH28973;BAB15230;BAF84614;BAH12355;CAB75652;CAL37896;EAX10343;EAX10344;EAX10345;NP_061336;NP_740754;Q9NPJ1 Hs.472119;Hs.741430 1722551;2107399;2131085;2159151 G60203;MKKS__7396;RH46023;STS-R67339 BBS6;HMCS;KMS;MKS McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin;OTTHUMP00000030274;OTTHUMP00000162353;bardet-Biedl syndrome 6 protein APPROVED protein-coding ENSG00000125863 HGNC:7108 05356 209900;236700;604896 REVIEWED 1345947 MKL2 MKL/myocardin-like 2 ENCODES a protein that exhibits transcription coactivator activity; INVOLVED IN positive regulation of striated muscle tissue development; positive regulation of transcription from RNA polymerase II promoter; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 3-methylcholanthrene; benzo[a]pyrene 16 16 16 p13.12 14340460 14536766 + 14165178 14360633 + 14071321 14266776 + 737633;1580863;6480464 12477932 10574462;12168954;12397177;12944485;14565952;14702039;15231748;15489334;17081983;17360478;17947237;17991879;18029348;18056415;19198601;20309963;20442744;20607705;20881960;21102462;22139079;23672313;23853104;24250222;24968937 57496 I3L0U1;I3L2A0;I3L2S3;I3L3Z7;Q9ULH7 AB033069;ABBA01006879;ABBA01006880;AC012626;AC040173;AC130650;AF078853;AK056385;AK057216;AK093577;AK126948;AK127530;AK294765;AMYH02031535;AMYH02031536;AMYH02031537;AMYH02031538;AY374297;BC006977;BC016293;BC020644;BC030510;BC034934;BC038834;BC047761;BC050541;BC067270;BC073950;BC107868;BC127941;BC136260;BC171750;BX641041;CH471112;CR749797;NM_014048;XM_005255451;XM_005255452;XM_005255453;XM_005255455;XM_005255457;XM_006720908;XM_006720909;XM_006720910;XM_006720911;XM_006720912;XM_006720913;XM_006720914 AAD44485;AAH34934;AAH47761;AAI27942;AAI36261;AAI71750;AAQ82435;BAA86557;BAC04200;BAG54517;BAG57899;CAH18657;EAW85112;EAW85113;EAW85114;EAW85115;NP_054767;Q9ULH7;XP_005255508;XP_005255509;XP_005255510;XP_005255512;XP_005255514;XP_006720971;XP_006720972;XP_006720973;XP_006720974;XP_006720975;XP_006720976;XP_006720977 Hs.49143 1679481;1736548;1768030;2155474;5016478;5037552 AFMB348XF5;D16S2547E;D8S2279;GDB:434012;RH65002;RH78435 DKFZp686J1745;FLJ31823;FLJ45623;MRTF-B;MRTFB;NPD001 MKL/myocardin-like protein 2;megakaryoblastic leukemia 2;myocardin-related transcription factor B protein-coding ENSG00000186260 HGNC:29819 17577 609463 VALIDATED 7248080 MKLN1-AS MKLN1 antisense RNA 7 7 7 q32.3 125745483 125763517 - 130994503 131012538 - 131309744 131328022 - 14702039;16344560 100506881 ABBA01057562;AC018642;AK054623;AMYH02016771;CH236950;NR_125364;XR_108815;XR_108818;XR_113046;XR_171684;XR_252309;XR_426227;XR_426228;XR_426229;XR_426230;XR_426231;XR_428260;XR_428261;XR_428262;XR_428263;XR_432243;XR_432244;XR_432245;XR_432246 Hs.660830 MKLN1-AS2 APPROVED ncrna ENSG00000236753 HGNC:40374 VALIDATED 1320666 MIXL1 Mix paired-like homeobox Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008] 1 1 1 q42.12 199602144 199604274 + 226411325 226414756 + 226223618 226227055 + 1580863;6480464 12070013;12095687;12477932;15982639;17303500;18032708;18976975;22164283;22632162 83881 Q9H2W2 ABBA01009643;AF211891;AF218357;AL592045;AMYH02002809;BC111974;BC113441;BC143784;CH471098;CX165667;NM_001282402;NM_031944 AAG35776;AAI11975;AAI13442;AAI43785;AAK01479;EAW69778;EAW69779;NP_001269331;NP_114150;Q9H2W2 Hs.282079 2110571 MIXL1_2694 MGC138179;MILD1;MIX;MIXL;hMix MIX1 homeobox-like protein 1;Mix-like homeobox protein 1;OTTHUMP00000035667;OTTHUMP00000245180;homeobox protein MIXL1;homeodomain protein MIX;mix.1 homeobox-like protein APPROVED protein-coding ENSG00000185155 HGNC:13363 10086 609852 VALIDATED 6767228 MKNK1-AS1 MKNK1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 1 1 1 p33 45291761 45323304 + 47004368 47035927 + 46538696 46570255 + 8554872 14702039 100507423 ABBA01050837;AK097731;AL136373;AMYH02000961;HG491990;KF495930;NR_038403 Hs.601863 2166174;2171009;2171011 A001U07;G19651;WI-19607 APPROVED ncrna ENSG00000269956 HGNC:44129 VALIDATED 1312564 MKL1 megakaryoblastic leukemia (translocation) 1 The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 22 22 22 q13 24608353 24836358 - 40806292 41032690 - 40410281 40636719 - 1599948;1580863;6480464;8554872 11431691 10591208;10718198;11344311;11439182;12019265;12168954;12397177;12477932;12944485;14565952;14702039;14970199;15302935;15329155;15461802;15489334;15849773;16098147;16710414;16964243;17081983;17287340;17360478;17525332;17599918;17947237;17991879;18029348;18036521;18056415;18337547;18477564;18667423;18688043;18694962;18710951;19008859;19136660;19198601;19350017;19471022;19513752;19570815;19724058;20816842;20889312;21139048;21330600;21670154;21693764;21965288;22049076;22139079;22310353;22718766;22927943;23062334;23243284;23535729;23535733;23744493;23811404;23853104;24084383;24096006;24189459;24495796;24722188;24762104;24816145;24831700 57591 A4FUJ8;B0QY74;B0QY83;B0QY84;E7ER32;Q969V6;W0Z7M9 AB037859;ABBA01055602;ABBA01055603;ABBA01055604;ABBA01055605;ABBA01055606;ABBA01055607;ABBA01055608;AF368061;AF448806;AJ297257;AJ297258;AL022238;AL031594;AL713710;AMYH02038405;AMYH02038406;AMYH02038407;AMYH02038408;AMYH02038409;BC021586;BC064620;BC114364;BC115039;BC139730;BG716386;CH471095;CR456522;HG764171;HY058235;HY123688;KF457470;NM_001282660;NM_001282661;NM_001282662;NM_020831;XM_005261691;XM_005261692;XM_005261694;Z86090 AAI14365;AAI15040;AAI41654;AAI41656;AAK54721;BAA92676;CAC38826;CAC38827;CAD28507;CAG30408;CAK54553;CAK54852;CDJ79779;EAW60382;EAW60383;EAW60384;NP_001269589;NP_001269590;NP_001269591;NP_065882;Q969V6;XP_005261748;XP_005261749;XP_005261751 Hs.654688 1338228;1341060;1665089;1665091;1708816;1729199;1739663;1855995;7187089 A006A20;D22S1120E;D22S279;D22S534;G20649;SGC30681;SHGC-81075;stbK229A8.SP6 BSAC;MAL;MRTF-A MKL/myocardin-like protein 1;Mkl1 variant 1 Mkl1_S;OTTHUMP00000199245;OTTHUMP00000199246;OTTHUMP00000199247;RBM15/MKL1 fusion;RNA-binding motif protein 15/megakaryoblastic leukemia-1 fusion protein;basic, SAP and coiled-coil domain;megakaryoblastic leukemia 1 protein;megakaryocytic acute leukemia protein;myocardin-related transcription factor A APPROVED protein-coding ENSG00000196588 HGNC:14334 10445 606078 VALIDATED 7205281 MKNK2P1 MAP kinase interacting serine/threonine kinase 2 pseudogene 1 10 10 10 p11.21 36999027 36999640 - 37232987 37233600 - 36944059 36944672 - 389948 ABBA01033309;AL390061;AMYH02022647;NG_022142 pseudo HGNC:44970 INFERRED 1313930 MKNK2 MAP kinase interacting serine/threonine kinase 2 This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [provided by RefSeq, Aug 2011] 19 19 19 p13.3 1972223 1985996 - 2037470 2051243 - 2037471 2051244 - 1580863;2315047;6480464;6907045 16421520 11013076;11154262;11463832;12477932;12897141;14702039;15057824;15489334;16103188;16216586;16344560;16856496;18299328;18508592;19322201;20936779;21149447;21906983;21988832;22797067;23602568;23814052;23831578;24250222;8415712;8889548;9155017 2872 B3KS07;B4DEQ4;K7EIN7;K7EK27;K7ELG3;K7ELN0;K7EMP5;Q9HBH9;Q9NV89 AB209074;ABBA01002703;ABBA01002704;AC007136;AF125532;AF237775;AF237776;AK001730;AK023442;AK024347;AK092536;AK097012;AK293742;AK303393;AL137565;AL137615;AL513974;AMYH02035183;BC018345;BC021235;BC073140;BM977403;BU192307;CH471139;DA950743;FB775508;FB775510;HI202980;HI202982;NG_029798;NM_017572;NM_199054 AAD21217;AAF17226;AAG26336;AAG26337;AAH18345;AAH73140;ACE86881;ACE87568;BAA91866;BAD92311;BAG52569;BAG57165;BAG64449;CAB70816;CAV30711;CAV30712;CBX54006;CBX54007;EAW69422;EAW69423;NP_060042;NP_951009;Q9HBH9 Hs.515032 1734646;2182967 D19S642E;RH78432 GPRK7;MNK2 G protein-coupled receptor kinase 7;MAP kinase signal-integrating kinase 2;MAP kinase-interacting serine/threonine-protein kinase 2;MAPK signal-integrating kinase 2;Putative map kinase interacting kinase APPROVED protein-coding ENSG00000099875 HGNC:7111 05459 605069 REVIEWED 1313525 MKI67 marker of proliferation Ki-67 This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq, Mar 2009] 10 10 10 q26.2 123566399 123595953 - 129894923 129924468 - 128096659 128126204 - 1580863;2317703;2317706;2317702;2317705;2317704;2317709;2317708;6480464;6483536;6483538;6483517;6483528;6483515;6483529;6483533;6483553;6483519;6483531;6483543;6483545;6483541;6483520;6483521;6483534;6483516;5509078;6483544;6483522;6483523;6483547;6483539;5686413;8554872 12903495;20045412;20137856;20350215;20367636;20388395;20864405;20919850;21166752;21294775;21364546;21440078;21536322;21576701;21693493;21696422;21795350;21846355;21880954;22004841;22017545;22070864;22092365;22147251;22262719;22268182;22302692;22405128;22499302;9869516 10502411;10548634;10570175;10878014;11342549;11570981;11744991;11759064;11783017;11793364;11839580;11857304;11925591;12051866;12125971;12174912;12432453;12434121;12479099;12485163;12532420;12575534;12607601;12647790;12649825;12716386;14582704;14627346;14642363;14659764;14674120;14707453;15048881;15068320;15104289;15164054;15214825;15217948;15302935;15452376;15545971;15591788;15638357;15638377;15638382;15679862;15809747;15848144;15871722;15931389;15953875;15964376;16045773;16097446;16171567;16196087;16206250;16244663;16255765;16260903;16295759;16351648;16385451;16479062;16533178;16565220;16573167;16574316;16609045;16623776;16629645;16681683;16723309;16739374;16804724;16882345;16948516;16964243;16984615;17065089;17081983;17143016;17188136;17225522;17227124;17234468;17285761;17296585;17310847;17377809;17390041;17464313;17474147;17490723;17525627;17525638;17525640;17531085;17545048;17577209;17593084;17594714;17647192;17674766;17693651;17695500;1769665;17713095;17805549;17848143;17885492;17903293;17923265;17972530;17975119;18005189;18018472;18019405;18029348;18038314;18077791;18095132;18165175;18202755;18234277;18256893;18301453;18312749;18331287;18374497;18439942;18496701;18510217;18516322;18546942;18561741;18572327;18592370;18665038;18674924;18690204;18705408;18727426;18762814;18766188;18766962;18778369;18798062;18798277;18822690;18949744;18982746;19019173;19023099;19032382;19050681;19077408;19080002;19082441;19093259;19102938;19130399;19138978;19144445;19152245;19157151;19160064;19162366;19173807;19195690;19207951;19220627;19291919;19340613;19342238;19350669;19351365;19351506;19389623;19394292;19436038;19446313;19452712;19462897;19470936;19471022;19519606;19559929;19584075;19585492;19593135;19596686;19602458;19687314;19690760;19690767;19710015;19723039;19773751;19774459;19777788;19788614;19818763;19832838;19854077;19901884;19935641;19946260;19946888;19952937;19956635;20001343;20010526;20030864;20030866;20038236;20082479;20095356;20099418;20103652;20103726;20105109;2012175;20181625;20189840;20198771;20223108;20338617;20353905;20360068;20369488;20369584;20381119;20398247;20414055;20442586;20450760;20483025;20487522;20557372;20598358;20627009;20628624;20682791;20686376;20694513;20800066;20800603;20809021;20819770;20840814;20848772;20868604;20871219;21045152;21058037;21062978;21080107;21097442;21111561;21139048;21145461;21182205;21210727;21252943;21302028;21325804;21334717;21354936;21366896;21371741;21422198;21424069;21435003;21478101;21524841;21572399;21610457;21611785;21629784;21642658;21652010;21655651;21655654;21655657;21664839;21677540;21680106;21693764;21694464;21738398;21753697;21778791;21792693;21809665;21819622;21840910;21881319;21890473;21900206;21906983;21935871;21937080;21965052;21979598;22024151;22040407;22040408;22043024;22125028;22126395;22169637;22172851;22178446;22197541;22199292;22205326;22248824;22277792;22300665;22309998;22335622;22335907;22361634;22372356;22395505;22395508;22412018;22419713;22452996;22492957;22505724;22520514;22531522;22534537;22542077;22554964;22575865;22586326;22590818;22631655;22639545;22675168;22734595;22752375;22778705;22783570;22890751;22892062;22901702;22932087;22939629;22939959;22976139;22990118;22995634;23000965;23003335;23016458;23026928;23030583;23040923;23042264;23096218;23135572;23137549;23139965;23184081;23235554;23240716;23244127;23266046;23286956;23301386;23343959;23359198;23382631;23382998;23511287;23526930;23545927;23550775;23579216;23614934;23643983;23674192;23674848;23718721;23721782;23729350;23729443;23752268;23790165;23805466;23812670;23818345;23818346;23818347;23818355;23846734;23902708;23963898;23970015;23982330;23986211;24008660;24021213;24024498;24056649;24061459;24081504;24083750;24121170;24151431;24189270;24196303;24200480;24207090;24322019;24324728;24344030;24344040;24360660;24369532;24403187;24403472;24403473;24486077;24505696;24507671;24577133;24642606;24654937;24778252;24816145;24834759;25015289;25029119;25211928;2571566;8227122;8603106;8889548;9087533 4288 P46013;Q70L72 ABBA01009092;AJ567755;AJ567756;AJ567757;AK299254;AL355529;AL390236;AMYH02024021;BM699306;BU632619;BU855841;CH471066;HI179092;NM_001145966;NM_002417;X65550;X65551;X74107;X94762;XM_006717864 BAG61285;CAA46519;CAA46520;CAA64388;CAD99005;CAD99006;CAD99007;CBX53854;EAW49177;EAW49178;EAW49179;NP_001139438;NP_002408;P46013;XP_006717927 Hs.689823;Hs.80976 1657360;1672292;1761289;1773049;2107397;2139688;2147499;2167520 D10S1202;D10S2184;MKI67_7831;RH1579;SHGC-145292;SHGC-52534;SHGC-63598;STS-R96656 KIA;MIB-;MIB-1;PPP1R105 OTTHUMP00000020739;OTTHUMP00000020740;antigen KI-67;antigen identified by monoclonal antibody Ki-67;proliferation-related Ki-67 antigen APPROVED protein-coding ENSG00000148773 HGNC:7107 08902 176741 REVIEWED 735982 MITF microphthalmia-associated transcription factor This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 p14.2-p14.1 69715972 69944858 + 69788586 70017488 + 69739435 69968337 + 1599944;1599943;1580863;6480464;6484113;6907045;7240710;8554872;8699517 10851256;8589691 10578055;10587587;10673502;10694430;10760582;11176068;11230166;11331755;11350962;11709556;11751862;11764295;11792706;11818452;11929831;11930005;12032083;12048204;12086670;12204775;12235125;12477932;12663655;12666593;12753399;12819038;12944398;13985019;14737107;14744763;15205688;15489334;15507434;15607961;15623583;15715979;15716956;15729346;15884099;15983061;16001072;16029420;16129781;16140982;16344560;16411896;16420247;16455654;16489066;16510564;16524430;16586042;16766266;17159916;17182868;17250547;17464203;17516926;17627390;17975146;18039926;18281284;18284417;18316599;18424413;18451137;18457359;18478240;18595666;18628967;18636124;18829533;18971960;19188590;19320733;19322201;19422606;19464596;19471022;19496784;19659611;19784067;19805117;19895547;20058232;20083088;20099279;20127975;20163701;20201954;20379614;20478267;20482673;20485200;20513998;20514666;20530484;20550935;20573688;20644734;20701798;20801516;20807369;20952536;20973930;21070662;21203491;21273305;21324898;21326905;21358674;21362015;21438779;21577209;21610457;21693764;21771814;21796150;21797920;21801332;21811243;21832049;21873430;21887372;21949374;21981993;21988832;21996743;22012259;22080950;22115973;22131883;22196401;22258527;22320238;22441367;22496449;22523078;22571403;22594792;22647378;22668579;22833560;22848417;22848661;22898827;23098757;23167872;23201126;23223141;23275444;23349796;23477830;23480510;23728343;23774529;23787126;23802662;23923085;23962556;24039954;24226203;24324551;24335901;24379252;24767713;666627;7874167;7951321;7969144;8069297;8645245;8659547;8995290;9158138;9440696;9500554;9647758;9660747;9700169;9806910;9856573;9918847 4286 B4DNC7;C9J845;C9JBI8;C9K0S7;E9PKJ8;O75030;Q8WYR3 AB006909;AB006988;AB006989;AB009608;AB032357;AB032358;AB032359;ABBA01030909;ABBA01030910;ABBA01030911;ABBA01030912;ABBA01030913;ABBA01030914;ABBA01030915;AC099326;AC104445;AC104449;AC124915;AF034755;AK291318;AK296129;AK297858;AL110195;AL117653;AMYH02007025;AMYH02007026;AW242257;BC011461;BC012503;BC026961;BC065243;BM800230;BQ219650;BU167035;CH471055;D82874;DA058963;DC388606;GU355676;NG_011631;NM_000248;NM_001184967;NM_001184968;NM_006722;NM_198158;NM_198159;NM_198177;NM_198178;XM_005264754;XM_005264755;XM_006713164;Z29678 AAC39639;AAH26961;AAH65243;ADB90411;BAA32288;BAA95206;BAA95207;BAA95208;BAA95209;BAB83926;BAC16749;BAF84007;BAG58874;BAG60189;CAA82775;CAB53672;EAW65479;EAW65480;EAW65481;EAW65482;EAW65483;EAW65484;NP_000239;NP_001171896;NP_001171897;NP_006713;NP_937801;NP_937802;NP_937820;NP_937821;O75030;XP_005264811;XP_005264812;XP_006713227 Hs.166017;Hs.618266 1670447;1689781;1708362;1710834;1714669;1729053;1735182;1743633;2107395;2129025;5126620;5127706 D3S2825E;D3S3964;GDB:363545;MITF_7830;Mitf;RH119999;RH28674;RH77689;SHGC-77109;SHGC-81156;SHGC-84185;STS-N33393 CMM8;MI;WS2;WS2A;bHLHe32 OTTHUMP00000195123;OTTHUMP00000195138;OTTHUMP00000195139;OTTHUMP00000195140;OTTHUMP00000195142;OTTHUMP00000213867;OTTHUMP00000213868;OTTHUMP00000230787;class E basic helix-loop-helix protein 32 APPROVED protein-coding ENSG00000187098 HGNC:7105 01138 103470;103500;156845;193510;614456 REVIEWED 6481351 MKRN2OS MKRN2 opposite strand 3 3 3 p25.2 12516318 12520769 - 12581280 12586963 - 12539768 12560921 - 16641997 100129480 H3BPM6;H3BSJ0 ABBA01025203;AC018500;AMYH02006293;NM_001195279;XM_006712909 H3BPM6;NP_001182208;XP_006712972 Hs.572974 1700610;5015961;5022322 D11S2560;D15S1477;RH103927 C3orf83;MKRN2-AS1 MKRN2 antisense RNA 1 (non-protein coding);MKRN2 antisense gene protein 1;putative uncharacterized protein C3orf83 APPROVED protein-coding HGNC:40375 VALIDATED 1605115 MKNK1 MAP kinase interacting serine/threonine kinase 1 This gene encodes a Ser/Thr protein kinase that interacts with, and is activated by ERK1 and p38 mitogen-activated protein kinases, and thus may play a role in the response to environmental stress and cytokines. This kinase may also regulate transcription by phosphorylating eIF4E via interaction with the C-terminal region of eIF4G. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2012] 1 1 1 p33 45310474 45357318 - 47023079 47069966 - 46557407 46604294 - 2315047;6480464;6907045;8553011;8552898;8554872 16421520;16955078;18761105 10022874;10859165;10978317;11154262;11157753;11463832;12477932;14499622;14702039;15220445;15234964;15350534;15489334;15516979;15563472;15581611;16162500;16344560;16479008;16710414;16763222;17130135;17590453;17724079;19650764;20379614;20686366;20805296;20936779;21149447;21406405;21576361;21832049;21900206;21949767;21988832;22227431;22249268;22454512;23359369;23365451;23401599;23455922;23602568;23737503;23814052;24250222;24401275;8636128;8889548;9155017;9155018;9468497;9878069 8569 A8K341;B4E1V9;E9PIA0;E9PII5;E9PJH1;E9PLE7;E9PMF1;E9PMM8;E9PN34;E9PPI6;E9PQ23;E9PQ26;E9PSC9;E9PSE0;H0YE67;Q7Z319;Q9BUB5 AB000409;AB451300;AB451432;ABBA01050836;ABBA01050837;AK096423;AK290456;AK298839;AK304005;AK310566;AL136373;AMYH02000961;AY355461;BC002755;BG722049;BM665342;BX538193;BX648559;CH471059;DA435648;DA502363;DC366212;DC376088;KF459523;KF495933;NG_032029;NM_001135553;NM_003684;NM_198973;NR_024174;NR_024176;XM_006710999;XM_006711000;XM_006711001;XM_006711002;XM_006711003;XM_006711004;XM_006711005;XM_006711006;XM_006711007;XM_006711008;XM_006711009;XM_006711010;XM_006711011;XM_006711012;XM_006711013;XM_006711014;XM_006711015;XR_426637 AAH02755;AAQ84219;ABM83918;ABM87239;ACE86543;ACE87224;BAA19885;BAF83145;BAG53286;BAG60967;BAG64921;BAG70114;BAG70246;CAD98062;EAX06900;EAX06901;EAX06902;EAX06903;EAX06904;EAX06905;NP_001129025;NP_003675;NP_945324;Q9BUB5;XP_006711062;XP_006711063;XP_006711064;XP_006711065;XP_006711066;XP_006711067;XP_006711068;XP_006711069;XP_006711070;XP_006711071;XP_006711072;XP_006711073;XP_006711074;XP_006711075;XP_006711076;XP_006711077;XP_006711078 Hs.371594 1667149;2108261;2137616;2166174;2171009;2171011;5015861;5037552;5109281;7185938 A001U07;D10S16;D1S1425;D1S3299;D8S2279;G19651;G34810;MKNK1_8834;WI-19607 MNK1 MAP kinase interacting kinase 1;MAP kinase signal-integrating kinase 1;MAP kinase-interacting serine/threonine kinase 1;MAP kinase-interacting serine/threonine-protein kinase 1;MAPK signal-integrating kinase 1;OTTHUMP00000009674;OTTHUMP00000009675;OTTHUMP00000009676;OTTHUMP00000009677;OTTHUMP00000231552;OTTHUMP00000231555 APPROVED protein-coding ENSG00000079277 HGNC:7110 09468 606724 REVIEWED 1321625 MKRN2 makorin ring finger protein 2 This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 3 3 3 p25 12535907 12563538 + 12598513 12625212 + 12557014 12583713 + 1580863;6480464 11042152;11597136;12477932;14702039;15489334;17500595;18187620;19549727;21048031;21139048;21172006;22118674;22493164;22505724;23000965;24722188 23609 C9J494;Q9H000 ABBA01025200;ABBA01025201;AC018500;AF277170;AF302084;AK091318;AK298463;AL834512;AMYH02006293;AMYH02006294;BC001799;BC015715;CH471055;DR157266;NM_001271707;NM_014160 AAG27595;AAG30426;AAH01799;AAH15715;ABM82021;ABM85203;BAG52337;BAG60676;CAD39168;EAW64132;EAW64133;NP_001258636;NP_054879;Q9H000 Hs.591666 1335171;1665813;1671810;1697776;1720305;1742967;1750213;1767656;2146385;2177854;5093796 A009W45;D3S2870E;D3S3701;D3S4000;G15882;G32929;GDB:217154;RH102412;RH123901;SHGC-112307;SHGC-76728 HSPC070;RNF62 OTTHUMP00000207820;OTTHUMP00000207821;OTTHUMP00000207822;RING finger protein 62;makorin RING zinc-finger protein 2;probable E3 ubiquitin-protein ligase makorin-2 APPROVED protein-coding ENSG00000075975 HGNC:7113 09761 608426 REVIEWED 1349875 MKRN3-AS1 MKRN3 antisense RNA 1 q11-q13 10196367;16344560;19844787;20301505;9237260 10108 DA753755 Hs.628878 FNZ127;MKRN3-AS;MKRN3AS;NCRNA00009;ZNF127-AS;ZNF127AS APPROVED ncrna HGNC:12910 603857 1350230 MKRN4P makorin ring finger protein 4, pseudogene ENCODES a protein that exhibits ligase activity (inferred); zinc ion binding (inferred); INVOLVED IN protein ubiquitination (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2-butoxyethanol (ortholog); all-trans-retinoic acid (ortholog) X X X p21.1 44832917 44836585 + 40693507 40697060 + 40834254 40837807 + 1580863;6480464 21906983 7682 Q13434 ABBA01046772;AC092474;AMYH02039195;NG_004713;U41315 AAA99070;Q13434 1676848 RH98946 MKRN4;MKRNP5;RNF64;ZNF-Xp;ZNF127-Xp;ZNF127L1 APPROVED pseudo HGNC:7115 06661 INFERRED 734391 MKLN1 muskelin 1, intracellular mediator containing kelch motifs Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008] 7 7 7 q32 125545899 125932352 + 130794855 131181398 + 131110096 131496639 + 737629;1580863;6480464;8554872 10640805 11006128;12477932;12559565;12690205;14702039;15084145;15489334;16344560;17353931;17467196;18710924;19322201;20038947;20379614;21139048;21906983;23667531;23829686;9724633 4289 B4DG30;C9J7E8;C9JVL5;C9JWX9;C9JXB0;F8WEY7;Q9UL63 AA284481;AA451916;ABBA01057559;ABBA01057560;ABBA01057561;ABBA01057562;ABBA01057563;ABBA01057564;ABBA01057565;ABBA01057566;ABBA01057567;ABBA01057568;AC008264;AC009362;AC009783;AC013434;AC018642;AF047489;AF086386;AI928463;AK002024;AK025088;AK074367;AK294384;AK310452;AL162071;AL705061;AL833458;AMYH02016768;AMYH02016769;AMYH02016770;AMYH02016771;AW505004;AX878026;BC002834;BC013938;BC067825;BE778355;BU945366;BX537433;BX538253;CB046426;CH236950;CH471070;DA172589;KF458601;NM_001145354;NM_013255;XM_005250355;XM_005250356;XM_006715992;XM_006715993 AAF06698;AAH02834;AAH67825;BAA92042;BAG57641;CAB82407;CAD97675;CAE89978;EAL24081;EAW83781;EAW83782;EAW83783;NP_001138826;NP_037387;Q9UL63;XP_005250412;XP_005250413;XP_006716055;XP_006716056 Hs.44693 1336149;1337159;1338271;1655968;1664796;1670931;1705606;1717535;1749025;1749511;1749987;1767664;1772936;1788748;2121207;2132856;2147485;2171768;2175624;2180552;5024605;5092688;5126993;7185446;7186580;7186581 A004O23;A005Q09;D7S1575;D7S1946;D7S2531;D7S2790;D7S2894;D7S2924;D7S2961;D7S3054;D7S649;DXS8011;G32265;GDB:4585556;HSC20C032;RH10996;RH122072;RH128619;RH75489;SHGC-110664;SHGC-111218;SHGC-111692;SHGC-83000 FLJ11162;TWA2 OTTHUMP00000206857;OTTHUMP00000207137;muskelin APPROVED protein-coding ENSG00000128585 HGNC:7109 16129 605623 VALIDATED 1351036 MKRN5P makorin ring finger protein 5, pseudogene X X X q13 73662914 73665978 - 73379442 73382506 - 74159607 74162671 - 7683 ABBA01059599;ABBA01059600;AL359740;AMYH02039775;NG_000873;U41316 1676848 RH98946 MKRNP1;ZNF-Xq;ZNF127L2 APPROVED pseudo HGNC:7117 INFERRED 1344748 MKRN7P makorin ring finger protein 7, pseudogene 20 20 20 q13.12 41803949 41805210 - 45092299 45093931 - 46463660 46465292 - 8889548 7686 ABBA01052680;AL031686;AMYH02037160;BU740454;NR_026640 Hs.717103 MKRNP3;ZNF127L5;dJ981L23.2 APPROVED pseudo HGNC:7119 PROVISIONAL 1347996 MKRN8P makorin ring finger protein 8, pseudogene 1 1 1 p34.2 41637289 41640098 - 43355302 43358111 - 42889631 42892440 - 10843807 391033 ABBA01050970;AL512353;AMYH02000887;NG_009613 MKRNP4;ZNF127L4 APPROVED pseudo HGNC:7120 INFERRED 1349030 MKRN9P makorin ring finger protein 9, pseudogene 12 12 12 q21.32 87844669 87846492 - 88176662 88178488 - 87782885 87784711 - 12477932 400058 Q6NVV0 ABBA01053429;AC079598;AMYH02026895;BC067894;NR_033410 Q6NVV0 Hs.572212 1788784 RH134570 MKRN5;MKRN9;MKRNP6;RNF65;ZNF127L3 APPROVED pseudo HGNC:7116 VALIDATED 1343445 MKS2 Meckel syndrome, type 2 ASSOCIATED WITH Joubert syndrome 2 (inferred); Meckel syndrome type 2 (inferred) 7240710 9758620 26177 HGNC:7122 603194;608091 1347564 MKRN1 makorin ring finger protein 1 This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014] 7 7 7 q34 134874902 134901432 - 140152840 140179369 - 140453040 140479569 - 1580863;6480464 10843807;11230166;12477932;15231747;15489334;15805468;16785614;18029348;19178923;19536131;19604354;19846531;20379614;20473778;21139048;21172006;21890473;21900206;21906983;21963094;22505724;22864571;23104211;24250222 23608 C9IY57;C9IZP5;C9J031;C9JYI0;C9JYX8;F8WAS8;F8WBJ4;F8WEY8;H7C4H5;H7C588;Q9UHC7 AB209298;ABBA01034067;ABBA01034068;ABBA01034069;ABBA01034070;ABBA01034071;AC069335;AF117233;AF192784;AF192789;AF192793;AI828363;AK024987;AK027137;AK127030;AK297361;AK315552;AL136812;AM236048;AMYH02016903;BC012398;BC025955;BC037400;BC051821;BC064838;BC127216;CA438497;CH236950;CH471070;DC400746;NM_001145125;NM_001291663;NM_013446;NR_117084 AAF17214;AAF17487;AAF18979;AAH25955;AAH37400;AAH64838;AAI27217;ABM83330;ABW03317;BAD92535;BAG37929;BAG54426;BAG59808;CAB66746;CAJ84705;EAL24026;EAW83949;EAW83950;EAW83951;EAW83952;EAW83953;NP_001138597;NP_001278592;NP_038474;Q9UHC7 Hs.744883 1676848;1679860;1735686;1788784;1857811;2156487;2182942;5022578 D1S1423;D7S2143E;G19952;RH10747;RH134570;RH47137;RH98946;WI-19904 FLJ21334;RNF61 E3 ubiquitin-protein ligase makorin-1;OTTHUMP00000212117;OTTHUMP00000212118;OTTHUMP00000212121;OTTHUMP00000212124;RING finger protein 61 APPROVED protein-coding ENSG00000133606 HGNC:7112 09673 607754 REVIEWED 1352116 MKRN6P makorin ring finger protein 6, pseudogene 6 6 6 p21.2 36967966 36971621 + 35413987 35417642 + 35446210 35449865 + 23610 ABBA01038233;AL022721;AMYH02013541;NG_002786 MKRNP2 APPROVED pseudo HGNC:7118 INFERRED 1346766 MKS3 Meckel syndrome, type 3 ASSOCIATED WITH Bardet-Biedl Syndrome (inferred); COACH syndrome (inferred); Joubert syndrome 6 (inferred) 7240710 12384791 282630 HGNC:29444 209900;216360;607361;610688;613550 1352123 MKS1 Meckel syndrome, type 1 The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 17 q22 52744576 52758745 - 56282797 56296966 - 58205436 58219605 - 6480464;7240710;8554872;8699517 12477932;14702039;15489334;16169070;16415886;17185389;17377820;17397051;17437276;17935508;18327255;18337471;19208769;19515853;20301537;20301743;21068128;21906983;24250222;7550354 54903 H0Y2S2;J3KRR3;J3KRV5;J3KSB7;J3KSC6;J3KSF4;J3QQP4;J9PBQ5;Q9NXB0 ABBA01041328;AC005962;AI208274;AK000352;AK301020;AK310815;AMYH02033686;AMYH02033687;BC010061;BE327525;CH471109;CR457229;DQ185029;NG_013032;NM_001165927;NM_017777;XM_005257482;XM_005257483;XM_005257484;XM_005257485;XM_005257486;XM_006721964;XM_006721965 AAH10061;AAZ94714;BAA91105;BAG62637;CAG33510;EAW94476;EAW94477;EAW94478;NP_001159399;NP_060247;Q9NXB0;XP_005257539;XP_005257540;XP_005257541;XP_005257542;XP_005257543;XP_006722027;XP_006722028 Hs.408843 1651323;2190959 MARC_12093-12094:1004642557:1;WI-11807 BBS13;FLJ20345;MES;MKS;POC12 FABB proteome-like protein;Meckel syndrome type 1 protein;OTTHUMP00000165109;OTTHUMP00000165110;OTTHUMP00000165111;POC12 centriolar protein homolog APPROVED protein-coding ENSG00000011143 HGNC:7121 07900 209900;249000;609883 REVIEWED 1322529 MKRN3 makorin ring finger protein 3 The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008] 15 15 15 q11-q13 1971197 1973910 + 23810454 23820764 + 23565307 23568020 + 1580863;6480464;8699517;7240710;8554872 10196367;12477932;15489334;16344560;19066619;19549727;19844787;20301505;22082156;22493164;23000965;23738509;24438377;24628548;24722188;9613204 7681 H3BPL3;H3BUZ8;Q13064;Q6NSB6 ABBA01048679;AC126407;AI939624;AMYH02030085;AW445166;BC044639;BC070293;CH471151;DA495139;NG_012875;NM_005664;U19107 AAC13989;AAH44639;AAH70293;ABZ92516;EAW57608;NP_005655;Q13064 Hs.679587;Hs.72964 1742161;2163410;5015961 D15S1477;GDB:192783;SHGC-35648 CPPB2;D15S9;MGC88288;RNF63;ZFP127;ZNF127 OTTHUMP00000159436;RING finger protein 63;probable E3 ubiquitin-protein ligase makorin-3;zinc finger protein 127 APPROVED protein-coding ENSG00000179455 HGNC:7114 04836 603856;615346 REVIEWED 8661424 MKX-AS1 MKX antisense RNA 1 10 10 p12.1 28033544 28056728 + 27744615 27767799 + 101929202 AC024606;AMYH02022518;BG194628;BU195543;HY126584;NR_121652;XR_242745;XR_252718 Hs.568843 ncrna HGNC:50686 VALIDATED 1354476 MLEC malectin ENCODES a protein that exhibits enzyme binding; carbohydrate binding (ortholog); INVOLVED IN cellular protein metabolic process (inferred); post-translational protein modification (inferred); protein folding (inferred); FOUND IN membrane; endoplasmic reticulum (ortholog); INTERACTS WITH copper(2+) sulfate; diazinon; elemental selenium 12 12 12 q24.31 120759216 120773932 + 121124949 121139667 + 120687146 120701864 + 1580863;6480464 10929008;12477932;15489334;16751776;18303019;18524852;19322201;19946888;20347265;21139048;21813736;21906983;22939629;22988243;24816145;8590280 9761 F5GX14;F5H1S8;H0YG07;Q14165 ABBA01020133;AC069234;AK124275;AMYH02027379;BC000371;BC016297;BE622248;BF794298;BQ183402;BU845446;CA423273;CH471054;D63486;DQ585128;NM_014730;U88835 AAH00371;AAH16297;BAA09773;EAW98212;EAW98213;EAW98214;NP_055545;Q14165 Hs.744910 1736284;1850761;1850763;2110929;2115497;2119271;2144497;7185520 A006F12;A006N38;D12S1236E;D12S180E;D12S1915;G20758;WI-16745 KIAA0152 OTTHUMP00000240357;OTTHUMP00000240399;oligosaccharyltransferase complex subunit (non-catalytic) protein-coding ENSG00000110917 HGNC:28973 13781 613802 VALIDATED 1313806 MKX mohawk homeobox The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011] 10 10 10 p12.1 27725254 27798252 - 27961803 28034778 - 27672874 27745849 - 737633;6480464;8554872 12477932 15489334;16077953;16344560;16408284;17207965;18029348;19235719;19322201;20498044;20634891;20696843;22542470;22939624;23686683;7829101 283078 H0YKC7;H0YMU2;Q8IYA7 ABBA01034384;AC024606;AK125339;AMYH02022518;AW020078;BC036207;CH471072;DB285243;NG_029181;NM_001242702;NM_173576;XM_006717438;XM_006717439;XM_006717440 AAH36207;ADQ31705;BAG54187;EAW86052;EAW86053;NP_001229631;NP_775847;Q8IYA7;XP_006717501;XP_006717502;XP_006717503 Hs.128193 1736044;1736098;1781252;1851685 D10S1314E;D10S1377E;RH48228;stSG70368 C10orf48;IFRX;IRXL1;MGC39616 Iroquois family related homeodomain protein;OTTHUMP00000019374;homeobox protein Mohawk;iroquois homeobox protein-like 1 APPROVED protein-coding ENSG00000150051 HGNC:23729 12577 601332 REVIEWED 1315192 MLANA melan-A FOUND IN endoplasmic reticulum membrane; Golgi apparatus; melanosome; INTERACTS WITH disodium selenite; etoposide; isotretinoin 9 9 9 p24.1 5828388 5847301 + 5890895 5909822 + 5890909 5909825 + 1580863;6480464 11854361;12072203;12119345;12191019;12444131;12477932;12819038;12925214;14663359;15305155;15489334;15618925;15695812;15703212;16814609;17050671;17082590;17227112;17719062;17768347;18091323;18097665;18181974;18337837;18494818;18626310;18976975;19050104;19317896;19320733;19384076;19717472;19861278;20417641;21135695;21362015;21610457;21667026;21760531;21993558;22050092;22190364;22291187;22529253;22688397;22768350;22820661;22925930;23899062;8006593;8170938 2315 Q16655 ABBA01065407;AK312149;AL365360;AMYH02019089;AX113831;AX658032;BC014423;CH471071;CR450299;NM_005511;U06452;U06654;XM_006716742 AAA19238;AAA20389;AAH14423;ABM83183;ABM86385;BAG35083;CAC37866;CAD79827;CAG29295;EAW58755;EAW58756;NP_005502;Q16655;XP_006716805 Hs.154069 1675943;1767159;1796322;5037552 D8S2279;MLANA_186;RH47692;RH98492 MART-1;MART1 OTTHUMP00000021036;OTTHUMP00000021037;OTTHUMP00000021038;antigen LB39-AA;antigen SK29-AA;melanoma antigen recognized by T-cells 1;protein Melan-A protein-coding HGNC:7124 09269 605513 VALIDATED 1315708 MLF1 myeloid leukemia factor 1 This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] 3 3 3 q25.1 156712820 156748018 + 158288953 158324249 + 158571164 158606460 + 1600902;1580863;6480464;7240710;8699517 15659732 12176995;12477932;14506644;14702039;15116101;15489334;15861129;16169070;16189514;17854834;17967869;17975119;18029348;19023099;20471513;21139048;21906983;22151054;22193965;23271436;23403313;8570204 4291 B2RD48;C9J3M3;C9JNE5;C9K0D3;C9K0D4;F8VXT4;F8WEY0;P58340;Q2TLE4;Q5HYH4 AA707847;ABBA01058814;ABBA01058815;ABBA01058816;ABBA01058817;ABBA01058818;AC025033;AC106707;AK056948;AK096889;AK297488;AK315402;AMYH02007997;AMYH02007998;AY848700;AY848701;AY848702;BC007045;BC095437;BU619178;BX647666;CH471052;DB455518;L49054;NG_027720;NM_001130156;NM_001130157;NM_001195432;NM_001195433;NM_001195434;NM_022443;XM_005247479;XM_005247480;XM_006713645 AAA99997;AAH07045;AAX46015;AAX46016;AAX46017;BAB71320;BAC04885;BAG37795;BAG59906;CAI46058;EAW78685;EAW78686;EAW78687;EAW78688;EAW78689;EAW78690;NP_001123628;NP_001123629;NP_001182361;NP_001182362;NP_001182363;NP_071888;P58340;XP_005247536;XP_005247537;XP_006713708 Hs.85195 1663468;1698184;2170579 RH102628;SHGC-35682;STS-L49054 OTTHUMP00000213453;OTTHUMP00000213454;OTTHUMP00000213483;OTTHUMP00000213484;OTTHUMP00000213485;OTTHUMP00000213486;OTTHUMP00000213487;OTTHUMP00000213488;OTTHUMP00000213492;OTTHUMP00000213493;OTTHUMP00000213494;myelodysplasia-myeloid leukemia factor 1;myeloid leukemia factor 1 variant 1;myeloid leukemia factor 1 variant 2;myeloid leukemia factor 1 variant 3 APPROVED protein-coding ENSG00000178053 HGNC:7125 03239 601402;601626 REVIEWED 1318392 MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34372904 34399594 - 50497820 50524358 - 50059391 50085929 - 1580863;6480464;7240710;8554872;8699517 10092231;10376525;10591208;11254442;11326298;11935341;12111645;12149273;12168954;12189496;12477932;12497630;12665801;12850517;12939431;14615938;14702039;15037685;15367490;15461802;15489334;15892299;15992519;16001658;16344560;16470554;16652334;16712791;17210142;17628813;18029348;18165104;18330867;19931615;20301707;20560255;20926452;21145992;21160490;21440627;21555057;21624973;21890473;22328087;22416245;23455924;23495687;23793458;24315536;24501781;24561067;7584026;7584028 23209 A6PVC3;B7Z2T9;Q15049 ABBA01011368;ABBA01011369;AF319633;AK124264;AK294048;AK295106;AK297341;AK299841;AL022327;AMYH02038596;BC010518;BC028425;BC070042;BF513319;CB155740;CH471138;CR456460;D25217;DA212966;NG_009162;NM_015166;NM_139202;XR_430476 AAH28425;AAH70042;AAK60119;BAA04947;BAG54023;BAH11657;BAH11975;BAH12555;BAH13145;CAG30346;CAK54442;CAK54741;EAW73490;EAW73491;NP_055981;NP_631941;Q15049 Hs.517729 2116440;2150181;2169501;2176858;2178205;2183086;2187483 IB2001;RH25265;RH77726;STS-D25217;WI-15283;WI-15332;WI-15513 KIAA0027;LVM;MLC;VL OTTHUMP00000196707;OTTHUMP00000196708;OTTHUMP00000196722;membrane protein MLC1 APPROVED protein-coding ENSG00000100427 HGNC:17082 05800 604004;605908 REVIEWED 6481415 MLIP-AS1 MLIP antisense RNA 1 100873951 AL139389 APPROVED ncrna HGNC:40963 1315218 MLIP muscular LMNA-interacting protein ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nuclear envelope (ortholog); nuclear lumen (ortholog); PML body (ortholog); INTERACTS WITH cyclosporin A; titanium dioxide (ortholog) 6 6 6 p12.1 55545893 55793289 + 53883714 54131078 + 54018909 54266323 + 6480464;8554872 10975868;11160357;11222402;11282395;12218070;12477932;14574404;14702039;15489334;16344560;20379614;21498514;22001757 90523 D6R9R6;D6RD42;D6RHX6;E2QRH6;E9PCK9;E9PFJ4;H0Y8L5;Q5VWP3 ABBA01050517;ABBA01050518;ABBA01050519;ABBA01050520;ABBA01050521;ABBA01050522;AF235573;AF235775;AF317593;AJ408433;AK055530;AK294797;AK294890;AK311190;AK316157;AL139389;AL359380;AL365328;AMYH02013753;AY006110;BC009010;BX091237;BX113168;BX647567;CH471081;DA761851;DC322019;NM_001281746;NM_001281747;NM_138569;XM_005249476;XM_005249477;XM_005249478;XM_005249480;XM_006715244;XM_006715245;XM_006715246;XM_006715247;XM_006715248 AAG15613;AAH09010;AAK07575;AAK13703;AAK13905;ACT64431;BAB70942;BAH11888;BAH11916;BAH14528;CAC27625;EAX04433;EAX04434;EAX04435;EAX04436;NP_001268675;NP_001268676;NP_612636;Q5VWP3;XP_005249533;XP_005249534;XP_005249535;XP_005249537;XP_006715307;XP_006715308;XP_006715309;XP_006715310;XP_006715311 Hs.449276;Hs.591803 1726625;1758319;2144233;2145482;2180047 D6S1325;D6S1914;G62547;SHGC-148047;SHGC-32607 C6orf142;FLJ54673;FLJ79056;MGC18257 OTTHUMP00000016638;OTTHUMP00000217922;OTTHUMP00000217923;OTTHUMP00000217935;hypothetical protein LOC90523;muscle-enriched A-type lamin interacting protein;muscular-enriched A-type laminin-interacting protein APPROVED protein-coding ENSG00000146147 HGNC:21355 12853 614106 VALIDATED 6481113 MLIP-IT1 MLIP intronic transcript 1 (non-protein coding) 6 6 53863688 53871950 + 53998890 54007152 + 8889548 100874282 ABBA01050522;AL139389;AMYH02013752;AMYH02013753;CF890740;HG499289;NR_046832 Hs.571169 RP11-411K7.5 ncrna ENSG00000236996 HGNC:41461 PREDICTED 5131771 MLK7-AS1 MLK7 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 2 2 2 q31.1 167675853 167760178 - 174062440 174146764 - 173197712 173282036 - 8554872 12477932 339751 ABBA01020747;AC013461;AC092573;AMYH02005250;BC040565;HG494885;KF456740;NR_033882 Hs.570083 1675015;1684058;1690384;1697958;2137141;2148274;5093168 A009I04;G32560;RH102508;RH11697;RH69341;RH80553;RH94286 AC013461.2 APPROVED ncrna ENSG00000238133 HGNC:27935 VALIDATED 1351736 MLL3P MLL3 pseudogene 387499 HGNC:23823 1319451 MLH3 mutL homolog 3 This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 55518160 55555906 - 75480467 75518235 - 75013764 75051532 - 1600415;1580863;2306716;6480464;6907045;7240710;8554872;8699517 11586295;18157157 10615123;11292842;11317354;12095912;12477932;12800209;15193445;15558497;16322221;16344560;16774946;16885347;16981255;17203173;17482610;17494052;17567544;17656264;18364438;18521850;18551179;18723338;19064572;19115210;19156873;19237606;19483466;19762545;19789190;19808033;20154325;20301390;20403997;20437058;20496165;20603073;21150319;23128233;23696135;24250222;24443562;7596406 27030 B7Z5D1;G3V384;G3V3E0;G3V419;H0YJ15;H0YJA3;H0YJB4;H0YJU3;Q2M1Z1;Q9UHC1;Q9Y6S7 AB039667;ABBA01030707;ABBA01030708;AC006530;AF195657;AF195658;AK298777;AL049780;AL833875;AMYH02029528;AMYH02029529;AY963685;BC012544;BC036866;BC112167;BC143729;BX090851;CH471061;DA731365;DA805814;L40399;NG_008649;NM_001040108;NM_014381;XM_005267531;XM_005267532;XM_005267533;XM_005267534;XM_006720116;XM_006720117;XR_245681;XR_429311;XR_429312 AAC42005;AAD30184;AAF23904;AAF23905;AAH36866;AAI12168;AAX59030;ADR83390;BAA92353;BAH12867;CAD38732;EAW81211;EAW81212;EAW81213;EAW81214;EAW81215;NP_001035197;NP_055196;Q9UHC1;XP_005267588;XP_005267589;XP_005267590;XP_005267591;XP_006720179;XP_006720180 Hs.436650 1661470;1663230;1688466;1713955;1715893;2116019;2127074;2134059;2153473;2167671;5017463 D14S946;G35780;RH11245;RH119406;RH122681;RH45234;RH48007;RH68881;RH70143;RH91935;TXP208 HNPCC7;MGC138372 DNA mismatch repair protein Mlh3;OTTHUMP00000246794;OTTHUMP00000246795;OTTHUMP00000246797;mutL protein homolog 3 APPROVED protein-coding ENSG00000119684 HGNC:7128 05094 114500;604395;608089;614385 REVIEWED 1345161 MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN negative regulation of protein kinase activity (inferred); regulation of transcription, DNA-templated (inferred); transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Abnormality of blood and blood-forming tissues (inferred); Abnormality of metabolism/homeostasis (inferred); Autosomal dominant inheritance (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH atrazine; copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.3 6149173 6218734 - 6210392 6279959 - 6210381 6279948 - 1580863;6480464;8699517 10995463;11313972;11526240;12477932;12665591;1423624;15856011;16433901;17081983;17252016;18029348;18829457;18829459;19956800;20113834;20153263;20379614;20431927;20471948;20471949;20854876;21030982;21360054;21729782;21873227;21953510;21964340;22190034;22355797;22483617;22567366;23251033;23455922;23518577;23602568;23623499;24367103;24816145;25015289;7991593;8080983;8378076 4298 Q03111;Q9NPS2 ABBA01055974;ABBA01055975;ABBA01055976;ABBA01055977;ABBA01055978;AC011471;AF373587;AL365410;AMYH02035348;AMYH02035349;BC047008;BC063667;BC084564;CH471139;D14539;KF456487;L04285;NM_005934;XM_005259561 AAA58457;AAI46319;AAI46386;AAI48807;BAA03406;CAB96954;EAW69106;NP_005925;Q03111;XP_005259618 Hs.10095 2181228;5493439 UniSTS:486265;WI-20279 CTC-503J8.6;ENL;LTG19;YEATS1 ENL/MLL fusion;MLLT1/MLL fusion;YEATS domain-containing protein 1;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog);myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog), translocated to, 1;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 1;translocated to, 1 protein-coding ENSG00000130382 HGNC:7134 15933 159556 VALIDATED 1314832 MLF2 myeloid leukemia factor 2 INVOLVED IN defense response; FOUND IN membrane; INTERACTS WITH acetylsalicylic acid; cyclosporin A; diazinon 12 12 12 p13 8474453 8479931 - 6857158 6862721 - 6747992 6753470 - 1580863;6480464 12477932;15489334;16196087;16565220;17353931;18029348;18095154;18457437;19875381;19946888;20562859;21139048;22678362;22863883;23667531;23752268;23891004;24778252;24876273;25036637;8619474;8661158;9110174 8079 A8K1F4;F5H0Y3;F5H7L5;F5H800;Q15773;Q5U0N1 ABBA01017653;AC125494;AF070539;AK289869;AK313998;AMYH02025954;BC000898;BC002340;BI544309;BT019393;BT019432;CH471116;CR541700;NM_005439;NR_026581;U57342 AAB08988;AAC28632;AAH00898;AAH02340;AAV38200;AAV38239;BAF82558;BAG36710;CAG46501;EAW88743;EAW88744;NP_005430;Q15773 Hs.524214 2109519;2151295 MLF2_8777;RH11252 NTN4 OTTHUMP00000239264;OTTHUMP00000240388;OTTHUMP00000240389;OTTHUMP00000240478;myelodysplasia-myeloid leukemia factor 2 protein-coding ENSG00000089693 HGNC:7126 03238 601401 VALIDATED 1352072 MLKL mixed lineage kinase domain-like ENCODES a protein that exhibits ATP binding; protein complex binding; INVOLVED IN necroptotic process; protein homotrimerization; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; plasma membrane; INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; cisplatin 16 16 16 q23.1 59005422 59027475 - 74705753 74734789 - 74671855 74700891 - 737633;6480464;8554872 12477932 12471243;14702039;15489334;17353931;19844255;21963094;21988832;22265413;22421439;23612963;23666239;23720157;24219132;24316671;24322838;24703947;24813885;24816145 197259 I3L2T9;I3L2U3;I3L4A6;I3L4Z5;Q8NB16 ABBA01058107;ABBA01058108;AC004685;AC109599;AK091708;AK093013;AK122998;AL833362;AMYH02032384;BC028141;BQ575071;CH471114;CQ859712;NM_001142497;NM_152649;XM_005255834;XR_243397;XR_429715;XR_429716 AAH28141;BAC03728;CAH25906;CAI46144;EAW95679;NP_001135969;NP_689862;Q8NB16;XP_005255891 Hs.119878 1714013;2154709;5016478;5016781 GDB:434012;RH119437;RH69740;SHGC-67307 FLJ34389;hMLKL mixed lineage kinase domain-like protein protein-coding ENSG00000168404 HGNC:26617 08752 615153 VALIDATED 1605692 MLLT11 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008] 1 1 1 q21 124147453 124156275 + 151032151 151040973 + 151059675 151068497 + 6480464 12477932;14702039;15489334;15530661;16710414;17929166;18852119;19396856;20596645;21139048;21145461;21715312;21890473;21906983;22505724;22761939;23000965;24778252;25036637;7833468 10962 Q13015;Q6FGF7 ABBA01049368;AK056089;AK057755;AL590133;AMYH02001870;BC006471;BC007079;BC008445;BC009624;BC019253;BC021703;BC022448;BC032996;BT006799;CH471121;CR456879;CR542150;NM_006818;U16954 AAA70088;AAH06471;AAH08445;AAH09624;AAH19253;AAH21703;AAH22448;AAP35445;ABM82355;ABM85530;BAG51620;CAG33160;CAG46947;EAW53476;NP_006809;Q13015 Hs.75823 1647969;1687928;1689057;1795332;1855218;2111077;2144194 AF1Q_1363;D13S1138E;RH11557;RH79564;RH98209;SHGC-37116;STS-Z40244 AF1Q;RP11-316M1.10 ALL1 fused gene from chromosome 1q;ALL1-fused gene from chromosome 1q;OTTHUMP00000033120 APPROVED protein-coding HGNC:16997 05251 604684 REVIEWED 1349701 MLLT10P1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 pseudogene 1 20 20 29637584 29638138 - 30402908 30403462 - 16344560 140678 ABBA01015425;AL441988;AMYH02036891;DA118653;NR_045115 Hs.653099 MLLT10L;bA348I14.3 APPROVED pseudo HGNC:15794 PROVISIONAL 1322026 MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] 10 10 10 p12 21495732 21720297 + 21813540 22032559 + 21534172 21743630 + 1598771;1580863;6480464;8699517 7662954 10860745;10997963;11423977;11756182;11774384;12127405;12453419;12477932;12482966;12750376;14702039;15164054;15851025;15856011;16215946;17043677;17868029;18029348;18037964;19322201;19443658;19913121;20431927;20628086;20854876;21030982;21706055;21804547;22064352;23535729;23535730;23670296;23673860;24816145;7888665;9737689 8028 E9PBP4;H0Y5C4;H0Y5P4;P55197;Q59EQ6;Q5JT35;Q6N002 AB209755;ABBA01034488;ABBA01034489;ABBA01034490;ABBA01034491;ABBA01034492;ABBA01034493;ABBA01034494;ABBA01034495;ABBA01034496;AF060929;AF060934;AF060935;AF060936;AF060937;AF060938;AK128264;AK301213;AK310803;AL137295;AL161799;AL357372;AL358780;AL359697;AMYH02022422;AMYH02022423;AMYH02022424;AY598745;BC032532;BC052798;BC065376;BC080577;BC094844;BC129946;BX640774;BX648210;CH471072;KF455214;NG_027818;NM_001195626;NM_001195627;NM_001195628;NM_001195630;NM_004641;U13948;XM_005252605;XM_005252606;XM_005252608;XM_005252609;XM_005252610;XM_005252611;XM_005252612;XM_006717509;XR_428648 AAA79972;AAC16701;AAC16706;AAC16707;AAC16708;AAC16709;AAC16710;AAH80577;AAI56207;AAI56950;AAT47519;BAD92992;BAG62788;CAE45872;CAI46260;EAW86161;EAW86162;EAW86163;EAW86164;EAW86165;NP_001182555;NP_001182556;NP_001182557;NP_001182559;NP_004632;P55197;XP_005252662;XP_005252663;XP_005252665;XP_005252666;XP_005252667;XP_005252668;XP_005252669;XP_006717572 Hs.30385 1298317;1651791;1658407;1658409;1681384;1697780;1709148;1722013;1771329;1797864;1852699;1852845;1854645;1856233;2126645;2158790 D10S211;D10S2369;G59893;MLLT10_1942;RH102414;RH44601;RH45652;RH47336;RH48800;RH91239;SHGC-33568;SHGC-34521;SHGC-37264;SHGC-85735;STS-U13948;WI-17659 AF10;DKFZp686E10210;MGC75086 ALL-1 fused gene from chromosome 10;ALL1-fused gene from chromosome 10 protein;OTTHUMP00000019275;OTTHUMP00000019276;OTTHUMP00000019277;OTTHUMP00000019281;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog), translocated to, 10;myeloid/lymphoid or mixed-lineage leukemia translocated to, 10;protein AF-10;type I AF10 protein;type III AF10 protein;type IV AF10 protein APPROVED protein-coding ENSG00000078403 HGNC:16063 03874 602409 REVIEWED 1352975 MLLT4-AS1 MLLT4 antisense RNA 1 (head to head) INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; paracetamol 6 6 6 q27 168941632 168944538 - 168224570 168227476 - 167823890 167826796 - 6480464 10382971;14702039 653483 Q9Y6Z5 AB016898;ABBA01000417;AK091690;AK301419;AL009178;AMYH02014984;CH471051;DC331926;DC427335;NG_029689;NR_027906 BAA78633;BAC03721;BAG62948;EAW47487;Q9Y6Z5 Hs.520556 C6orf124;HGC6.4;dJ431P23.3 APPROVED ncrna ENSG00000198221 HGNC:21236 VALIDATED 737507 MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 INVOLVED IN negative regulation of canonical Wnt signaling pathway; positive regulation of Wnt signaling pathway, planar cell polarity pathway; ASSOCIATED WITH Abnormality of blood and blood-forming tissues (inferred); Abnormality of metabolism/homeostasis (inferred); Autosomal dominant inheritance (inferred); FOUND IN extracellular vesicular exosome; transcription elongation factor complex; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 9 9 9 p22 20283496 20561027 - 20341663 20622514 - 20341665 20622543 - 1580863;6480464;8699517 10898795;11313972;11439343;12477932;12776190;14603337;15381384;16086288;16169070;16189514;16215946;16328057;16636056;17332896;17581865;18029348;18371451;18538732;19056867;19591803;19864429;20159978;20379614;20395514;20431927;20471948;20471949;20689807;20854876;20874815;21030982;21360054;21729782;21832049;21873227;21896721;21937695;21959947;22094256;22309891;22355797;22427200;22567366;23178754;23260655;23403462;23455922;23518577;23602568;23624644;23891621;24250222;8125298;8414510;8506309 4300 B1APT5;B1APT6;P42568;Q6MZE2 ABBA01065185;ABBA01065186;ABBA01065187;ABBA01065188;AK128222;AK225957;AK297587;AK301474;AK312914;AL163193;AL354879;AL512635;AL513498;AL627410;AMYH02019274;AW451255;BC030550;BC036089;BI550359;BX649194;CH471071;D16688;DC306929;DC345433;KF510325;L13744;NM_001286691;NM_004529 AAA58361;AAH36089;ADZ16025;BAA04090;BAG35760;BAH12621;BAH13491;CAE46213;EAW58630;EAW58631;EAW58632;NP_001273620;NP_004520;P42568 Hs.317248;Hs.591085 1340524;1704262;1712763;1743797;1790203;2110575;2130839;2151416;2166598;2184401 BE111905;D9S1778;D9S1886;G15985;GDB:373748;MLLT3__6320;RH11443;RH120095;SHGC-53630;SHGC-83267 AF-9;AF9;FLJ2035;YEATS3 ALL1-fused gene from chromosome 9 protein;OTTHUMP00000021127;YEATS domain-containing protein 3;myeloid/lymphoid or mixed-lineage leukemia (trithorax (drosophila) homolog) (translocated to, 3);myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog);myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog) (translocated to, 3);myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein;translocated to, 3 protein-coding ENSG00000171843 HGNC:7136 01163 159558 VALIDATED 1347043 MLN motilin This gene encodes a small peptide hormone that is secreted by cells of the small intestine to regulate gastrointestinal contractions and motility. Proteolytic processing of the secreted protein produces the mature peptide and a byproduct referred to as motilin-associated peptide (MAP). Three transcript variants encoding different preproprotein isoforms but the same mature peptide have been found for this gene. [provided by RefSeq, May 2010] 6 6 6 p21.3 35316856 35326200 - 33762449 33771793 - 33794672 33804016 - 1580863;6480464;8554872 10381885;11259768;11461914;12054506;12477932;12732349;15340161;15489334;17595255;18234640;18358279;18577758;18609694;19553259;19851445;20338210;20558539;21771971;22005931;22632857;23251661;23850713;2574660;2737284;2914635;3666144;6194039;7989042 4295 P12872 ABBA01038163;AL138889;AL158049;AMYH02013502;AW014210;BC069675;BC112314;BC143981;CH471081;M30277;M30278;M30279;M30280;M30281;NM_001040109;NM_001184698;NM_002418;X15392;X15393;X15394;X15395;X15396;Y00695 AAA59860;AAH69675;AAI12315;AAI43982;ADR82811;CAA33448;CAA68690;EAX03752;EAX03753;NP_001035198;NP_001171627;NP_002409;P12872 Hs.2813 1704104;1744747;1744749;1794024;2113842 GDB:555843;GDB:555847;MLN;PMC310739P3;SHGC-83372 MGC138519 OTTHUMP00000016220;OTTHUMP00000221654;OTTHUMP00000221655;prepromotilin;promotilin APPROVED protein-coding ENSG00000096395 HGNC:7141 15931 158270 REVIEWED 1354387 MLNR motilin receptor Motilin is a 22 amino acid peptide hormone expressed throughout the gastrointestinal (GI) tract. The protein encoded by this gene is a motilin receptor which is a member of the G-protein coupled receptor 1 family. This member is a multi-pass transmembrane protein, and is an important therapeutic target for the treatment of hypomotility disorders. [provided by RefSeq, Aug 2011] 13 13 13 q14-q21 30850358 30852397 + 49794474 49796513 + 49220338 49222377 + 1580863;6480464 10381885;10644557;11259768;11322507;11461914;12054506;12606621;15057823;15452121;16531413;16754659;18032475;18183601;18420306;20424473;22465164;23142315;9441746 2862 O43193 ABBA01051015;AF034632;AL137000;AMYH02028010;AY603964;CH471075;NG_029790;NM_001507 AAC26081;AAI48476;AAT35806;EAX08813;NP_001498;O43193 Hs.248126 2109365 GPR38_2830 GPR38;MTLR1 G protein-coupled receptor 38;G-protein coupled receptor 38;OTTHUMP00000018402 APPROVED protein-coding ENSG00000102539 HGNC:4495 04197 602885 REVIEWED 1345641 MLPL1 MARCKS-like protein-like 1 4305 HGNC:7143 1353795 MLS microphthalamia with linear skin defects 8364577 4307 HGNC:7145 1344252 MLVI2 Moloney murine leukemia virus (MoMuLV) integration site 2 homolog 2793187 4309 HGNC:7149 157960 736229 MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae) INVOLVED IN positive regulation of TOR signaling; regulation of actin cytoskeleton organization; PARTICIPATES IN mTOR signaling pathway; phosphatidylinositol 3-kinase-Akt signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH cobalt dichloride; copper(2+) sulfate; elemental selenium 16 16 16 p13.3 2469868 2473835 + 2255178 2259418 + 2205177 2209417 + 1626104;2308795;6480464;6484113;6907045;8554872 12718876;19339977 11182770;12408816;12477932;12719976;14702039;15066126;15459249;15467718;15718470;15755954;15809305;15854902;16183647;16344560;16798736;17386266;17461779;17565979;17991864;18030348;18235224;18505677;19446321;19553685;20169205;20427287;20562859;21139048;21163940;21283628;21321085;21454807;21460630;21906983;21963094;21981924;21987572;22017875;22258093;22505724;23275563;23423739;23455924;23594158;24250222;24337580;24403073;24457600 64223 H3BM50;H3BN58;H3BPT1;H3BPU5;H3BQ74;H3BR25;H3BR38;H3BSZ4;I3L2E7;Q9BVC4 ABBA01030269;AC009065;AF195883;AI933692;AK021536;AK022227;AK098762;AK123195;AK302201;AK304390;AMYH02031247;AU117583;AU121635;AY223837;BC001313;BC017119;BC020499;BC052292;BC088354;BI761765;BQ014640;CH471112;DA382215;NM_001199173;NM_001199174;NM_001199175;NM_022372;XM_005255475;XM_005255476;XM_005255478;XM_005255479;XM_005255480;XR_243294;XR_243295;XR_243296 AAF04308;AAH01313;AAH17119;AAH52292;AAH88354;AAO73410;ABM82537;ABM85729;ABW03392;BAB13990;BAG51036;BAG63562;BAG65225;EAW85537;EAW85538;EAW85539;EAW85540;EAW85541;EAW85542;NP_001186102;NP_001186103;NP_001186104;NP_071767;Q9BVC4;XP_005255532;XP_005255533;XP_005255535;XP_005255536;XP_005255537 Hs.29203 2146291 STS-W72364 GBL;LST8;MGC111011;POP3;WAT1 G protein beta subunit like;G protein beta subunit-like;GbetaL;OTTHUMP00000159044;OTTHUMP00000159045;OTTHUMP00000159046;TORC subunit LST8;gable;mammalian lethal with SEC13 protein 8;target of rapamycin complex subunit LST8 protein-coding ENSG00000167965 HGNC:24825 17031 612190 VALIDATED 1602332 MLXIP MLX interacting protein This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation of genes in response to cellular glucose levels. [provided by RefSeq, Mar 2014] 12 12 12 q24.31 122201038 122218235 + 122611800 122628989 + 122078746 122144442 + 6480464;8554872 10048485;11073985;12446771;12477932;12826659;16782875;18458340;19706488;20385767;20844768;21908621;22748921;23263486;23520550;23648065;23840567 22877 C9JBQ4;F5H0V4;F5H321;H0YGR9;Q9HAP2 AB020674;ABBA01020202;ABBA01060481;ABBA01060482;AC048338;AC130894;AC156455;AC190384;AC205581;AEKP01164321;AF245480;AF245481;AF312918;AMYH02027411;AMYH02027414;AW996647;BC017656;BC028309;BC039704;BC069272;BC151841;BE207198;BM007462;BM461435;BM558759;BM857835;BQ218664;BQ445885;CA426212;CH471054;NG_033995;NM_014938;XM_006719290;XM_006719291;XM_006719292;XM_006719293;XM_006719294 AAG34121;AAH17656;AAH28309;AAH39704;AAI51842;AAL55689;AAL55690;BAA74890;EAW98304;EAW98305;EAW98306;NP_055753;Q9HAP2;XP_006719353;XP_006719354;XP_006719355;XP_006719356;XP_006719357 Hs.437153;Hs.721711;Hs.731847 2126530;2163718 STS-W45376;WI-20969 KIAA0867;MIR;bHLHe36 MLX-interacting protein;Mlx interactor;MondoA;OTTHUMP00000239806;class E basic helix-loop-helix protein 36;transcriptional activator MondoA APPROVED protein-coding HGNC:17055 10478 608090 REVIEWED 1602902 MLX MLX, MAX dimerization protein The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21.1 37375011 37381154 + 40719078 40725221 + 42567060 42573203 + 6480464;8554872 10593926;10918583;11073985;11230181;12446771;12477932;14702039;14742444;15163635;15489334;15664996;16189514;16782875;18255255;18458340;20382893;21102463;21110914;21139048;21832049;21906983;21963094;24250222;7490091;8889548;8889549;8973301 6945 K7EID0;Q9UH92 AA024982;AB209235;ABBA01006420;AC067852;AF203978;AF213666;AF213667;AF213668;AK000150;AK290258;AK296114;AK303221;AK309628;AK314378;AK315432;AMYH02033430;BC010689;BC014537;BE907687;BI517590;BQ186038;BT009812;CH471152;NG_029442;NM_170607;NM_198204;NM_198205;U34879 AAF14638;AAG40145;AAG40146;AAG40147;AAH10689;AAP88814;BAA90977;BAD92472;BAF82947;BAG37005;BAG37820;BAG58863;BAG64308;EAW60841;EAW60842;EAW60843;EAW60844;EAW60845;NP_733752;NP_937847;NP_937848;Q9UH92 Hs.383019;Hs.714749 1652404;1656606;1694514;1739497;1767439;1767441;1770051;2149041;2155392;5014051;5016478;5022200;5022861;5037552;5117897 D17S1663;D17S1702;D8S2278;D8S2279;G43000;GDB:434012;GDB:631813;L18426;MLX;RH67830;RH71206;SHGC-13493;SHGC-53165;STS-U18014;WI-20188 MAD7;MXD7;TCFL4;bHLHd13 BigMax protein;MAX-like bHLHZIP protein;class D basic helix-loop-helix protein 13;max-like protein X;protein BigMax;transcription factor-like 4;transcription factor-like protein 4 APPROVED protein-coding ENSG00000108788 HGNC:11645 04278 602976 REVIEWED 1315450 MLLT6 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 3-methylcholanthrene; Aroclor 1254; atrazine 17 17 17 q21 33522831 33547014 + 36861873 36886056 + 38705620 38729803 + 1580863;6480464 12477932;14702039;15588942;16086288;16189514;16713569;18029348;19322201;19864429;20098747;20431927;21145461;21832049;21988832;8058765 4302 P55198 AB209633;ABBA01031904;AC006449;AF075118;AK027133;AK057058;AK092893;AK310435;AK310437;AL133659;AL832481;AMYH02033362;BC007237;BC007859;BC064612;BX648298;CH471152;KF456275;NM_005937;U07932;XM_005257379;XM_005257380;XM_005257381;XM_006721910;XM_006721911;XM_006725324;XM_006725325;XM_006725326;XM_006725327;XM_006725328;XR_429892;XR_430782 AAA21145;AAH07237;AAH07859;AAH64612;BAB15670;BAD92870;CAB63772;EAW60521;EAW60522;EAW60523;EAW60524;NP_005928;P55198;XP_005257436;XP_005257437;XP_005257438;XP_006721973;XP_006721974;XP_006725387;XP_006725388;XP_006725389;XP_006725390;XP_006725391 Hs.91531 1676688;1770360;1857646 RH41914;RH45610;RH91164 AF-17;AF17;FLJ23480 ALL1-fused gene from chromosome 17 protein;Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6;OTTHUMP00000164158;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog);myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog), translocated to, 6;translocated to, 6;trithorax homolog protein-coding ENSG00000275023 HGNC:7138 08978 600328 VALIDATED 1343873 MLXIPL MLX interacting protein-like This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68485730 68517088 - 73007524 73038903 - 73593194 73624573 - 634534;1580599;1580863;6480464 10780788;11724780 11230181;11698644;12477932;12721358;14702039;14742444;14759258;15163635;15489334;16644671;18193043;18193044;18193046;18591247;18606808;18946681;18950580;19060906;19060911;19148283;19252981;19487539;19571538;19680233;19913121;19995986;20025850;20158509;20167577;20301427;20382893;20570916;20580033;20657596;20679960;20686565;20864672;20965718;20972250;21036147;21145868;21282101;21665952;21726544;21811631;21835137;21840420;21909109;21938000;21988832;22001757;22286219;22338092;22399527;22466288;22546860;23209190;23263486;23443556;23505323;23530060;23597489;23604004;23803610;24055811;24097068;24366300;24449882;24616092;24664750;9860302 51085 C5HU01;C9JDF5;H7C1V3;Q9NP71 ABBA01063946;ABBA01063947;ABBA01063948;ABBA01063949;AC005089;AF156603;AF156673;AF245470;AF245471;AF245472;AF245473;AF245474;AK055029;AMYH02016024;AMYH02016025;AMYH02016026;BC012925;CH471200;FJ515858;NG_009307;NM_032951;NM_032952;NM_032953;NM_032954;XM_005250399;XM_006716016;XM_006716017;XM_006716018;XM_006716019 AAF68174;AAF68176;AAH12925;AAK20935;AAK20936;AAK20937;AAK20938;AAK20939;ACS13745;ACS13746;ACS13747;EAW69660;EAW69661;EAW69663;EAW69668;NP_116569;NP_116570;NP_116571;NP_116572;Q9NP71;XP_005250456;XP_006716079;XP_006716080;XP_006716081;XP_006716082 Hs.647055 1334971;1660161;1722951;1731955;1753475;1852859;2111440;2189275;5015861;5037552;7185938;7187824 D10S16;D7S1624;D7S2476;D7S2523;D7S809;D8S2279;G60573;RH64919;SHGC-107367;Wbscr14 CHREBP;MIO;WBSCR14;WS-bHLH;bHLHd14 MLX-interacting protein-like;MONDOB;Mlx interactor;OTTHUMP00000160457;OTTHUMP00000160458;OTTHUMP00000211546;OTTHUMP00000211547;OTTHUMP00000225492;OTTHUMP00000225493;WS basic-helix-loop-helix leucine zipper protein;Williams Beuren syndrome chromosome region 14;Williams-Beuren syndrome chromosomal region 14 protein;Williams-Beuren syndrome chromosome region 14 protein 1;Williams-Beuren syndrome chromosome region 14 protein 2;carbohydrate response element binding protein;carbohydrate-responsive element-binding protein;class D basic helix-loop-helix protein 14 APPROVED protein-coding ENSG00000009950 HGNC:12744 12033 605678 REVIEWED 731514 MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011] 6 6 6 q27 168944733 169081690 + 168227602 168372703 + 167826922 167972023 + 1580863;6480464;6484113 10085297;10224125;10225955;10334923;10382971;10446149;10521485;10545207;10583506;10613913;10617658;10620020;10733589;10744716;10856295;10922060;11024295;11544254;11788587;11907041;11956217;12067721;12446711;12456712;12477932;12590145;12808105;14574404;14702039;15144186;15231748;15302935;15324660;15684424;15811349;16051602;16086288;16239140;16344560;16819513;16882694;16964243;17013812;17081983;17353931;17491594;17620599;17967423;17979178;18029348;18052198;19176753;19738201;20379614;20413783;20586101;21478912;21697133;21706016;21732359;21880730;22446626;22586326;22623428;23319000;23393160;23444366;23885123;24255178;24373847;24639526;24695851;24816145;8242616;8589040;8889548;9334353;9349501;9679199;9707552;9722616 4301 A8MQ02;C9JX92;E9PFY5;F8W9I4;H0Y7R8;H0Y8L4;H0Y8U8;H0Y948;H0Y9I0;H0YA98;J3KN01;P55196;Q5TIG5 AB011399;AB209420;AB621809;ABBA01000415;ABBA01000416;AF085836;AI271860;AK055689;AK091815;AL009178;AL049698;AL161973;AL731868;AL732359;AMYH02014985;AMYH02014986;AMYH02014987;BC014505;BE503462;BE645141;BF732725;BQ646972;BX649158;CA503365;CH471051;D60168;DA200453;DB079271;E13503;KF458344;NG_029689;NM_001040000;NM_001207008;NM_001291964;U02478;XM_005266996;XM_005266997;XM_006715483;XM_006715484;XM_006715485;XM_006715486;XM_006715487;XM_006715488;XM_006715489;XM_006715490;XM_006715491;XM_006715492;XM_006715493;XM_006715494;XR_427971 AAC50059;AAH14505;AAI56049;AAI56935;BAA32483;BAA32484;BAA32485;BAD92657;BAK64145;CAB82312;EAW47480;EAW47481;EAW47482;EAW47483;EAW47484;EAW47485;EAW47486;NP_001035089;NP_001193937;NP_001278893;P55196;XP_005267053;XP_005267054;XP_006715546;XP_006715547;XP_006715548;XP_006715549;XP_006715550;XP_006715551;XP_006715552;XP_006715553;XP_006715554;XP_006715555;XP_006715556;XP_006715557 Hs.614974;Hs.728849;Hs.741785 1678363;1684946;1693334;1694144;1699030;1723261;1752929;1756427;1768289;1773314;1774681;2124040;2144097;2154769;2158831;2183033;2183088;2219930;5024545 AL034440;AL035180;D1S3695;D6S1539;G29377;MLLT4__6321;RH103088;RH122318;RH12549;RH45127;RH69394;RH75081;RH80394;SHGC-106814;SHGC-143407;SHGC-34245;STS-R33112;STS-U02478;WI-11462 AF-6;AF6;FLJ34371;RP3-431P23.3 ALL1-fused gene from chromosome 6 protein;OTTHUMP00000017633;OTTHUMP00000017634;OTTHUMP00000017635;OTTHUMP00000223316;OTTHUMP00000223317;afadin APPROVED protein-coding ENSG00000130396 HGNC:7137 01164 159559 REVIEWED 1312825 MMAA methylmalonic aciduria (cobalamin deficiency) cblA type The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008] 4 4 4 q31.21 143868075 143908722 + 146540540 146581187 + 145619388 145660035 + 1580863;1600803;6480464;7240710;8554872;8699517 15523652 12438653;12477932;14702039;15308131;15489334;16641088;17597648;17957493;19371216;20301313;20301334;20301409;20876572;21138732;23026888;24250222 166785 D6RIS5;Q495G6;Q8IVH4 ABBA01070034;AC093864;AF524841;AF524842;AF524846;AK094722;AK126662;AMYH02010258;BC101178;BC101179;BC101180;BC101181;CH471056;NG_007536;NM_172250;XM_006714118 AAI01179;AAI01180;AAI01181;AAI01182;AAN77287;BAG54352;EAX05036;NP_758454;Q8IVH4;XP_006714181 Hs.452864 1651371;1656849;1672496;1678823;1792152;1792154;1792156;1792158;1792160;1792162;2120917;2120919;2149962;2182399 A005L23;A006R31;G20310;PMC137755P1;PMC137755P2;PMC137755P3;PMC137755P4;PMC137755P5;PMC137755P6;RH35812;RH98423;SGC32504;SHGC-59313;SHGC-59790 MGC120010;MGC120011;MGC120012;MGC120013;cblA OTTHUMP00000220104;OTTHUMP00000220105;methylmalonic aciduria (cobalamin deficiency) type a;methylmalonic aciduria type A protein, mitochondrial APPROVED protein-coding ENSG00000151611 HGNC:18871 07394 251100;607481 REVIEWED 1346733 MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] 2 2 2 q23.2 144039995 144058186 - 150426147 150444330 - 149569633 149587816 - 6480464;7240710;8554872;8699517 11042152;12477932;15489334;15815621;18187620;18385497;19913121;20301334;20301409;20301503;20628086;21071249;22156578;22832074;23270877;24124411;24250222;8619474;9110174 27249 F8WEC0;Q9H3L0 AA857973;ABBA01004744;AC110782;AF060224;AF131802;AF161510;AK310001;AK313284;AMYH02004963;BC000932;BC010894;BC022859;BC023995;BG610637;BM456421;BU570084;CH471058;NG_009189;NM_015702 AAD20048;AAF29125;AAG43124;AAH00932;AAH10894;AAH22859;AAH23995;AAY14891;BAG36092;EAX11533;EAX11534;EAX11535;EAX11536;EAX11537;NP_056517;Q9H3L0 Hs.5324 1740047;1778117 D2S2131;RH12678 C2orf25;CL25022;cblD OTTHUMP00000204371;OTTHUMP00000204372;OTTHUMP00000205995;methylmalonic aciduria and homocystinuria type D protein, mitochondrial;protein C2orf25, mitochondrial APPROVED protein-coding ENSG00000168288 HGNC:25221 10781 277410;611935 REVIEWED 731588 MLYCD malonyl-CoA decarboxylase The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008] 16 16 16 q24 68233776 68250834 + 83932720 83962428 + 83899125 83916182 + 1600798;1300048;1580863;6480464;6907045;7240710;8554872;8699517 10455107 10417274;12477932;12955715;14702039;15003260;15206948;15489334;16386195;16434556;17081983;17186413;18314420;18614968;18660489;20178365;20702857;20877624;22778304;23482565;23791943;9869665 23417 O95822 ABBA01016931;ABBA01016932;AC009119;AF090834;AF097832;AF153679;AK094095;AMYH02032556;BC000286;BC052592;CH471114;NG_009079;NM_012213 AAD16177;AAD34631;AAD48994;AAH00286;AAH52592;EAW95513;NP_036345;O95822 Hs.644610 1854397;2217610;5022651;5037552;5108158 D11S2921;D8S2279;G38235;MLYCD_3558;SHGC-60689 MCD;MGC59795 malonyl coenzyme A decarboxylase;malonyl-CoA decarboxylase, mitochondrial APPROVED protein-coding HGNC:7150 05999 248360;606761 REVIEWED 1601765 MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] 1 1 1 p34.1 44249947 44260829 + 45965856 45976739 + 45500184 45511067 + 6480464;7240710;8554872;8699517 12477932;15489334;16311595;16710414;17431913;18164228;18245139;18779575;19199254;19200761;19370762;19447654;19700356;19760748;19767224;19801555;20219402;20237496;20301313;20301503;20631720;20877624;21071249;21139048;22642810;22832074;23270877;23824729;23825108;24577983;8889548 25974 Q9Y4U1 ABBA01050867;ABBA01050868;ABBA01050869;ABBA01050870;AK098537;AL080062;AL451136;AMYH02000930;BC006122;BM980565;BU632364;BU839693;CH471059;NG_013378;NM_015506;XM_005270724 AAH06122;ADZ15809;CAB45693;EAX06983;NP_056321;Q9Y4U1;XP_005270781 Hs.13024 1657787;1659968;1680701;1754047;1763031;2128988;2137153;5022578 A007G24;D1S1423;D1S2391;RH36426;RH69651;SHGC-132089;SHGC-146777;SHGC-74739 DKFZp564I122;FLJ25671;RP11-291L19.3;cblC OTTHUMP00000009243;methylmalonic aciduria and homocystinuria type C protein APPROVED protein-coding HGNC:24525 18585 277400;609831 REVIEWED 733729 MLH1 mutL homolog 1 This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009] 3 3 3 p21.3 36977606 37035102 + 37034841 37092337 + 36993350 37050846 + 1580863;1625106;1625107;1625108;2293518;2293510;2293517;2293515;2293522;2293514;2293509;2306716;2306714;4143515;6480464;6907045;7240710;8554872;8699517 10598809;11900875;12173039;15296997;15338238;15571801;15807307;15870899;16309235;16426918;18157157;19078924;8829664 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371;21233718;21240188;21286667;21290340;21348638;21353335;21358597;21375527;21375764;21404117;21425258;21513149;21533173;21538028;21556900;21559014;21565826;21615986;21622124;21642682;21660619;21671475;21674174;21681552;21706233;21712435;21721000;21744313;21745804;21747645;21766496;21785361;21840485;21849808;21865299;21875327;21901500;21911971;21952876;21953887;21963094;21988782;21988832;22006538;22022465;22067334;22083523;22086685;22136435;22144422;22145025;22156295;22169643;22188959;22222486;22234160;22246327;22249249;22287095;22306672;22331944;22368298;22371642;22378480;22395473;22426235;22453149;22456432;22498935;22502664;22552371;22626277;22631669;22635031;22669205;22678362;22736432;22740444;22753075;22766992;22773173;22776989;22843073;22864660;22865300;22878509;22883484;22899370;22930430;22939629;22940821;22987364;22987381;22992699;23017166;23042605;23060557;23073540;23086927;23098428;23100212;23143558;23149851;23155252;23226285;23240038;23244153;23255516;23266441;23283390;23328702;23329266;23354017;23370766;23374646;23401454;23403630;23412991;23434150;23504373;23523787;23526924;23539435;23555617;23573243;23587910;23621208;23640413;23643670;23653048;23672086;23712482;23716983;23727610;23787767;23788249;23794306;23817394;23865379;23935509;24004112;24027018;24035280;24073290;24090359;24122742;2414623;24165159;24308239;24317816;24323032;24333619;24400091;24443562;24444820;24456667;24643686;24966277;7584997;7661930;7705822;7728749;7757073;7812952;7903889;8125298;8128251;8145827;8533151;8566964;8571956;8609062;8751876;8797773;8872463;8940269;8942985;8993976;9032648;9048925;9067757;9087566;9111864;9218993;9245993;9259192;9272156;9298827;9311737;9326924;9399661;9490293;9559627;9611074;9718327;9827806;9831355;9833759;9927034 4292 B7Z821;C9JZ54;E7EUC9;E9PF25;F2Z298;H0Y4N0;H0Y5L7;H0Y5U4;H0Y793;H0Y806;H0Y818;P40692;Q59EG3 AB209848;ABBA01024858;ABBA01024859;ABBA01024860;AC006583;AC011816;AF001359;AK222810;AK295359;AK298324;AK298583;AK302807;AK311326;AK311365;AK312609;AK316074;AK316264;AMYH02006552;AMYH02006553;AMYH02006554;AU127758;AY217549;AY344475;AY517558;AY706914;BC006850;BX648844;CH471055;CN414955;DA517219;DQ648888;DQ648889;DQ648890;DQ648891;DQ648892;DQ648893;EU188665;EU188666;EU188667;EU188668;EU188669;EU188670;EU188671;EU188672;EU188673;EU188674;EU188675;EU188676;FB665438;NG_007109;NM_000249;NM_001167617;NM_001167618;NM_001167619;NM_001258271;NM_001258273;NM_001258274;S77856;U07343;U07418;U17839;U17840;U17841;U17842;U17843;U17844;U17845;U17846;U17847;U17848;U17849;U17850;U17851;U17852;U17853;U17854;U17855;U17856;U17857;U40978;XM_005265161;XM_005265163;XM_005265164;XM_005265166;XR_427268 AAA17374;AAA82079;AAA85687;AAB34135;AAB58936;AAC50285;AAH06850;AAO22994;AAQ23474;AAT44531;AAU21566;ABG49483;ABG49484;ABG49485;ABG49486;ABG49487;ABG49488;ABW03363;ABW03705;ABW69161;ABW69162;ABW69163;ABW69164;ABW69165;ABW69166;ABW69167;ABW69168;ABW69169;ABW69170;ABW69171;ABW69172;BAD93085;BAD96530;BAG35497;BAG58325;BAG60576;BAG60773;BAH13807;BAH14445;BAH14635;CAR96239;EAW64483;EAW64484;EAW64485;NP_000240;NP_001161089;NP_001161090;NP_001161091;NP_001245200;NP_001245202;NP_001245203;P40692;XP_005265218;XP_005265220;XP_005265221;XP_005265223 Hs.195364 1338206;1656298;1728021;1735130;1739451;1739561;1744631;1744633;1788326;1788328;1789837;1789839;1791294;1792302;1792304;1792306;1792308;1792310;1792312;1793564;1793566;1793568;2110573;2143291;2151690;5117410;7184044 D3S1007;D3S1611;D3S2795E;D3S3135;D3S3281;D3S3458;G63281;G67469;G67470;GDB:549088;GDB:549093;GDB:549098;MLH1_2900;PMC100312P1;PMC140684P3;PMC140684P4;PMC140684P5;PMC140684P6;PMC140684P7;PMC140684P8;PMC23037P1;PMC23037P2;PMC23037P3;SHGC-12575;csnphmlh1-pcr17-1;csnphmlh1-pcr8-1 COCA2;FCC2;HNPCC;HNPCC2;MGC5172;hMLH1 DNA mismatch repair protein Mlh1;OTTHUMP00000161361;OTTHUMP00000208782;OTTHUMP00000210160;OTTHUMP00000210161;OTTHUMP00000210162;mismatch repair protein;mutL homolog 1, colon cancer, nonpolyposis type 2;mutL protein homolog 1 APPROVED protein-coding ENSG00000076242 HGNC:7127 00390 120436;158320;276300;609310 REVIEWED 1346726 MMD monocyte to macrophage differentiation-associated This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008] 17 17 17 q 49932255 49961614 - 53469974 53499341 - 55392613 55421993 - 1580863;6480464 12477932;15489334;16044242;19322201;20237496;21968647;23251661;24971538;7503749 23531 I3L1Y1;Q15546 ABBA01041288;AC006269;AC007638;AK303810;AK312760;AMYH02033648;AY424289;BC026324;BI546449;CH471109;CR541893;HD061950;N40480;NM_012329;X85750;XM_006721795;XR_429880 AAH26324;AAR08377;ABM83288;ABM86495;BAG35626;BAG64763;CAA59752;CAG46691;CBS99541;EAW94541;EAW94542;NP_036461;Q15546;XP_006721858 Hs.463483;Hs.656753 1678931;2115423;2173155 A006T04;RH12438;RH93643 MMA;MMD1;PAQR11 macrophage maturation-associated;monocyte to macrophage differentiation factor;monocyte to macrophage differentiation protein;progestin and adipoQ receptor family member 11;progestin and adipoQ receptor family member XI APPROVED protein-coding ENSG00000108960 HGNC:7153 06835 604467 REVIEWED 6481384 MME-AS1 MME antisense RNA 1 q25.2 11329013 100873918 AC106724;BG217849 Hs.570537 APPROVED ncrna HGNC:40376 1603610 MMEL1 membrane metallo-endopeptidase-like 1 The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008] 1 1 1 p36 21530 63919 + 2522078 2564499 - 2590642 2633042 - 6480464 10542292;11560781;12477932;14702039;15121861;15489334;16344560;16710414;18029348;18539150;18794853;19674979;20049410;20190752;20439292;20453842;20574445;20634891;20639879;21297633;21784728;21833088;22008264;22027013;22197933;23128233;24449572 79258 B3KS82;J3KRD2;Q495T6 ABBA01016102;ABBA01016103;ABBA01016104;ABBA01016105;AC234231;AF336981;AK093058;AL139246;AL589746;AL831784;AMYH02000126;AX033274;BC101027;BC101028;BC101029;BC101030;CH471183;DB089501;NM_033467 AAI01028;AAI01029;AAI01030;AAI01031;AAL08942;BAG52644;CAC09978;EAW56080;EAW56081;EAW56082;NP_258428;Q495T6 Hs.591453 1729738;1756171;2157232;2157234 A006A26;D1S171;G20652;SHGC-143023 MGC119454;MGC119455;MGC119456;MMEL2;NEP2;NEPII;NL1;NL2;SEP NEP2(m);OTTHUMP00000000967;OTTHUMP00000217733;OTTHUMP00000217734;membrane metallo-endopeptidase-like 2;neprilysin II;neprilysin-2;soluble secreted endopeptidase;zinc metallopeptidase APPROVED protein-coding ENSG00000142606 HGNC:14668 07024 REVIEWED 1343591 MMGT1 membrane magnesium transporter 1 ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (ortholog); INVOLVED IN magnesium ion transport (ortholog); FOUND IN ER membrane protein complex; integral component of membrane; membrane; INTERACTS WITH hydroquinone O-beta-D-glucopyranoside; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) X X X q26.3 135404702 135416609 - 135044230 135056224 - 135962072 135973975 - 737633;1580863;6480464 12477932 11076863;11230166;11256614;15489336;16381901;18057121;19322201;19946888;21832049;21890473;21906983;22119785;22190034;22505724;22939629 93380 Q8N4V1 ABBA01055844;ABBA01055845;AK295829;AK312409;AL157477;AL732579;AL953870;AMYH02040568;BC033588;CH471150;NM_173470 AAH33588;BAG35322;BAG58645;CAL38628;EAW88483;EAW88484;EAW88485;NP_775741;Q8N4V1 Hs.110702 1739393;2170450;2170452 A005K16;D13S1134E;G20282 EMC5;TMEM32 ER membrane protein complex subunit 5;OTTHUMP00000024092;transmembrane protein 32 protein-coding ENSG00000169446 HGNC:28100 06626 PROVISIONAL 1315160 MMD2 monocyte to macrophage differentiation-associated 2 This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] 7 7 7 p22.1 4904710 4957925 - 4931876 4998844 - 4892245 4959213 - 737633;1580863;6480464 12477932 14702039;15489334;16044242;19240061;20237496;20379614;20570966;21226936;21968647;22339580 221938 Q8IY49 ABBA01039433;ABBA01039434;ABBA01039435;AC053546;AC092032;AC092610;AK094524;AMYH02015123;AY424288;BC024012;BC037881;BC048346;BC067905;CH471144;HD061948;NM_001100600;NM_001270375;NM_198403;NR_072989 AAH37881;AAH67905;AAR08376;CBS99540;EAW87305;EAW87306;EAW87307;EAW87308;NP_001094070;NP_001257304;NP_940685;Q8IY49 Hs.558694 1781380;1849183;2146081;5016478;5016596;5022651 A004U30;D11S2921;GDB:434012;GDB:631802;SHGC-106314;SHGC-55942 FLJ37205;PAQR10 OTTHUMP00000200643;OTTHUMP00000200648;OTTHUMP00000200649;monocyte to macrophage differentiation factor 2;monocyte-to-macrophage differentiation factor 2;monocyte-to-macrophage differentiation-associated protein 2;progestin and adipoQ receptor family member 10;progestin and adipoQ receptor family member X APPROVED protein-coding ENSG00000136297 HGNC:30133 17578 614581 REVIEWED 1347796 MMAB methylmalonic aciduria (cobalamin deficiency) cblB type This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011] 12 12 12 q24 109615887 109635725 - 109991520 110011358 - 109553715 109573553 - 1600420;6480464;6907045;7240710;8554872;8699517 12471062 12477932;12514191;15347655;15489334;15781192;16344560;17410422;17597648;17957493;18029348;18193043;18251506;19060906;19487539;19605566;19625202;20159775;20160193;20186120;20301313;20301334;20301409;20430392;20556797;20571754;20686565;20864672;20877624;20972250;21604717;23707710;24097068;24816145;7829101 326625 F5H079;F5H0C1;F5H4Z7;Q96EY8;S4R3P5;S4R3Z1 ABBA01005069;AC007570;AF550396;AF550397;AF550398;AF550399;AF550400;AF550401;AF550402;AF550403;AF550404;AK295211;AK312598;AMYH02027172;BC005054;BC011831;BI497024;CH471054;DA718661;FJ515859;NG_007096;NM_052845;NR_038118 AAH05054;AAH11831;AAN85091;ACS13749;ADZ15878;BAG35490;BAG58206;EAW97869;NP_443077;Q96EY8 Hs.12106 1645618;1653202;2154550;2179036 D12S172;D12S234;G17625;RH45414 ATR;CFAP23;MGC20496;cblB;cob ATP:cob(I)alamin adenosyltransferase;ATP:corrinoid adenosyltransferase;OTTHUMP00000240563;OTTHUMP00000240564;aquocob(I)alamin vitamin B12s adenosyltransferase;cilia and flagella associated protein 23;cob(I)alamin adenosyltransferase;cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial;methylmalonic aciduria (cobalamin deficiency) type b;methylmalonic aciduria type B protein APPROVED protein-coding ENSG00000139428 HGNC:19331 07398 251110;607568 REVIEWED 1321808 MLPH melanophilin This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 2 2 2 q37.3 232109603 232177895 + 238395053 238463961 + 237486410 237555318 + 1580863;6480464;7240710;8554872;8699517 11504925;11773082;11856727;11980908;12006666;12062444;12189142;12221080;12477932;12531900;12578829;12603861;12897212;12975309;14702039;14730011;15059972;15117313;15489334;15517821;16415175;17045265;21145461;21743057;21883982;21906983;24584932;8125298 79083 C9JI01;C9JKV5;H7C052;H7C190;H7C2D8;H7C371;H7C3K9;Q9BV36 ABBA01042585;ABBA01042586;ABBA01042587;AC104667;AC112721;AK022207;AK056867;AK094168;AK225381;AK292929;AK296745;AK310821;AMYH02006064;AMYH02006065;AY358857;BC001653;BC051269;BM272410;BM992819;CH471063;DC300186;NG_007286;NM_001042467;NM_001281473;NM_001281474;NM_024101;NR_104019;XM_006712737;XM_006712738;XM_006712739;XM_006712740;XM_006712741;XM_006712742 AAH01653;AAH51269;AAQ89216;AAY24045;AAY24136;ADR82715;BAB13984;BAF85618;BAG52834;BAG59329;EAW71112;EAW71113;EAW71114;EAW71115;EAW71116;NP_001035932;NP_001268402;NP_001268403;NP_077006;Q9BV36;XP_006712800;XP_006712801;XP_006712802;XP_006712803;XP_006712804;XP_006712805 Hs.102406 1854485;5106956 RH48487;STS-H98003 MGC2771;MGC59733;SLAC2-A OTTHUMP00000164416;OTTHUMP00000202834;OTTHUMP00000202835;OTTHUMP00000202836;OTTHUMP00000202837;exophilin-3;slp homolog lacking C2 domains a;synaptotagmin-like protein 2a APPROVED protein-coding ENSG00000115648 HGNC:29643 09409 606526;609227 REVIEWED 735298 MMP11 matrix metallopeptidase 11 (stromelysin 3) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq, Jul 2008] 22 22 22 q11.23 7954127 7965595 + 24115036 24126503 + 23772849 23784316 + 1580863;6480464;8554872 10419448;11280785;11857311;12006591;12429794;12477932;12538453;12845673;15231748;15459498;15489334;15509588;15582574;15788677;15989693;16303743;1639418;1701851;17085465;17091452;17181997;17233884;17543340;17980449;18172255;18208802;18476627;18622425;19159011;19212658;19509157;19913121;19914229;20060156;20160732;20230842;20452482;20587546;20628086;20673868;21048031;21442356;21513571;21773755;22076168;22227581;22286800;22488635;22768249;22927434;23115007;23211491;23755751;24564996;7523394;7657606;7746327 4320 B3KQS8;E9PED7;F8WDI7;H7C3I7;P24347 ABBA01055120;ABBA01055121;AK075448;AK125911;AK129792;AMYH02038133;AP000349;AY899208;BC057788;CH471095;DQ399599;NG_029443;NM_005940;X57766;X84664 AAH57788;AAW65373;ABD92798;BAG52140;CAA40918;CAA59150;EAW59603;EAW59604;NP_005931;P24347 Hs.143751 1744393;1769971;1779179;1796324;2156678 GDB:452641;MMP11_190;RH18115;SHGC-7855;STS-AA027995 MMP-11;SL-3;ST3;STMY3 OTTHUMP00000198423;OTTHUMP00000198424;matrix metalloproteinase 11;matrix metalloproteinase 11 (stromelysin 3);matrix metalloproteinase-11;stromelysin 3;stromelysin III;stromelysin-3 APPROVED protein-coding ENSG00000099953 HGNC:7157 01705 185261 REVIEWED 1350336 MMP12 matrix metallopeptidase 12 (macrophage elastase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. It is thought that the protein encoded by this gene is cleaved at both ends to yield the active enzyme, but this processing has not been fully described. The enzyme degrades soluble and insoluble elastin. It may play a role in aneurysm formation and studies in mice suggest a role in the development of emphysema. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 11 q22.3 99895056 99907358 - 102733464 102745764 - 102862733 102875034 - 1582352;1582363;1582365;1582355;1582356;1582358;1582366;1582361;1582354;1582351;1580863;6480464;7207058;6218988;2325762;7241212;7241216;7241222;2290421;737630 10807873;11546917;11576837;12103254;12626598;15073384;15654856;16082623;16115023;16221765;16533694;16816359;16820601;18606867;19321798;20488952;21277817;21894146 10187779;10419448;10737800;10801980;10859319;10930399;10949161;11053263;11241738;11575928;11575929;11875051;12195704;12477932;12742660;12858542;15474460;15489334;15654955;15709175;15723202;15781250;15802269;15944607;15983040;15987457;15989693;16166618;16311244;16359550;16481329;16676616;16912171;17000679;17178858;17178873;17182940;17300109;17357518;17373931;17473191;17574772;17607721;17706587;17727250;17997411;18001475;18001704;18006768;18052707;18091353;18155181;18259971;18308831;18324629;18334288;18390828;18396640;18403602;18425585;18539597;18619044;18660381;18775985;18823978;19056482;19132754;19159011;19258954;19293200;19420105;19562509;19578796;19590686;19628284;19643940;19664242;19731200;19789190;19794969;19913121;19932771;19958990;20018959;20078883;20127415;20160424;20230842;20376807;20392358;20452482;20484597;20485444;20546881;20587546;20595276;20628086;20655856;20673868;20736794;20827277;21048031;21606841;21683576;21730350;21832049;21920892;21967233;22076168;22117411;22119538;22153340;22305682;22509390;22528292;22832961;22863605;22907031;22936257;23075521;23271741;23343931;23357697;23383108;23575435;23642232;23898086;23900981;24043512;24146820;24398311;24784232;7782320;8226919;8921407;9115292 4321 P39900;Q99745 ABBA01039930;AI343504;AI352562;AK313959;AMYH02025489;AP000789;AW172994;AY856072;BC112301;BC143773;BE440047;BE813419;CH471065;FP885831;L23808;NG_032936;NM_002426;U25346;U78045 AAA58658;AAB06314;AAB36943;AAI12302;AAI43774;AAW29944;ADR83017;BAG36675;EAW67033;NP_002417;P39900 Hs.1695;Hs.709832 2181912;2217614 MMP12;MMP12_2636 HME;ME;MGC138506;MME;MMP-12 macrophage elastase;macrophage metalloelastase;matrix metalloproteinase 12 (macrophage elastase);matrix metalloproteinase-12 APPROVED protein-coding ENSG00000262406 HGNC:7158 03027 601046 REVIEWED 1347586 MMP10 matrix metallopeptidase 10 (stromelysin 2) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades proteoglycans and fibronectin. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 11 q22.3 99802887 99813014 - 102641233 102651359 - 102770502 102780628 - 1580863;6480464;7207051;8693313 11159210;19886850 10419448;10472874;10986281;12477932;15095982;15288123;15371548;15375490;15489334;15944607;16054593;16331256;16516860;16580524;17009259;17543340;17695449;18035073;18427549;18617643;1874716;19317417;19489686;19601983;19695094;19762781;19913121;19921252;19935709;20215736;20219015;20432469;20452482;20453000;20484597;20584750;20587546;20628086;20673868;20936527;21925226;21998657;22022614;22104553;22121946;22427646;22492089;22524815;22545096;22821423;23098370;23412934;23535732;2369069;23742289;24009192;24077220;24078057;24255036;24327153;2605216;2844164;7632822;7694569;8003069;8125298;8144618;8349617;8631328;8921407;9042108;9261109;9427548;9578462;9662124 4319 F5GYX7;P09238 ABBA01039931;AK222601;AK313960;AMYH02025488;AP000619;AY744675;BC002591;BT007442;CH471065;M30461;NM_002425;X07820 AAH02591;AAO65617;AAP36110;AAU21039;ABM82857;ABM86044;BAD96321;BAG36676;CAA30679;EAW67029;NP_002416;P09238 Hs.2258 1742549;2133408;2217612 GDB:197866;MMP10_2715;RH70815 MMP-10;SL-2;STMY2 OTTHUMP00000237848;matrix metalloprotease 10;matrix metalloproteinase 10 (stromelysin 2);matrix metalloproteinase-10;stromelysin 2;stromelysin-2;transin 2;transin-2 APPROVED protein-coding ENSG00000166670 HGNC:7156 01704 185260 REVIEWED 737353 MME membrane metallo-endopeptidase This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq, Jul 2008] 3 3 3 q25.2 153217556 153321523 + 154797436 154901518 + 155079647 155183729 + 1581742;1581931;1600817;1600813;1600811;1580863;6480464;6907045;7401223 11849775;15464186;15638741;16177542;16520407;17021406 10669592;11104793;11140838;11170145;11367540;11906289;12070597;12087466;12102663;12105192;12140380;12150966;12203213;12387451;12393702;12447961;12477932;12485446;12527400;12529960;12657655;12754344;12754519;12785004;14550292;14673956;14739539;14747736;14749444;14767532;14968440;15047060;15100223;15205682;15217945;15283675;15286660;15294904;15469471;15489334;15502805;15548496;15578072;15668537;15720419;15785408;15860464;15870909;15945081;16123216;16226260;16344560;16400325;1660144;16652149;16700740;16722930;16857799;16877296;16900210;16900384;16940054;16943769;16948517;16984256;17101991;17207277;17220478;17294442;17296585;17335564;17342744;17363457;17591969;17662271;17712175;17845760;17876294;17885484;17906676;17928142;17953966;18042078;18092952;18182043;18292286;18370954;18393807;18518902;18539150;18545147;18602473;18605079;18619643;18806483;19019493;19047112;19056867;19057576;19127446;19152193;19196432;19250583;19287335;19288202;19326964;19437324;19448593;19515046;19575892;19606063;19656156;19661328;19752720;19787248;19816087;19817893;19864659;19897485;19925052;19948975;19961253;20014550;20051779;20051780;20061637;20079015;20105452;20175824;20184665;20204382;20376800;20390424;20459800;20468064;20506111;20546336;20574156;20663017;20685603;20711432;20716621;20856894;20858953;20886092;20947507;20957047;21052031;21076839;21225496;21315759;21365649;21425402;21499231;21515054;21585282;21609487;21651905;21666788;21677537;21681600;21775056;21804528;21835428;21877416;21883368;21963094;21988858;21989348;22006372;22014058;2201681;22183801;22257901;22261707;22272689;22286396;22300665;22371247;22384224;22410801;22417750;22464152;22492182;22572771;22767595;22880404;22898766;22994707;23063927;23065018;23138928;23219141;23333304;23339695;23348903;23356903;23360525;23509938;23566254;23653392;23686701;23752268;23838604;23857215;23863409;23867815;24040464;24099862;2417254;24460801;24603459;24825898;24874475;2521237;2521388;2528730;2531377;2612455;2736261;2968607;2971756;2972276;2984462;2994530;3157879;3162217;7532408;8003005;8168535;8631021;8687431;8943850;9232196;9247159;9313778;9659899;9857225 4311 C9IYX7;C9J7X4;C9J9X7;C9JDZ3;C9JR96;P08473;Q3KQS6 ABBA01058864;ABBA01058865;AC106724;AC117384;AK291761;AK310664;AMYH02007952;AMYH02007953;BC101632;BC101658;BC106070;BC143465;BM151602;BP418894;BX647134;CH471052;DA574242;DB142029;EU326307;J03779;KC143287;KC143288;KF457702;M26605;M26606;M26607;M26608;M26609;M26610;M26611;M26612;M26613;M26614;M26615;M26616;M26617;M26618;M26619;M26620;M26621;M26622;M26623;M26624;M26625;M26626;M26627;M26628;NM_000902;NM_007287;NM_007288;NM_007289;X07166;X79438;XM_006713646;XM_006713647;Y00811 AAA51915;AAA52294;AAI01633;AAI01659;AAI06071;AAI43466;ACA05913;ACA05914;AGE12493;AGE12494;BAF84450;CAA30157;CAA68752;EAW78753;EAW78754;EAW78755;EAW78756;EAW78757;EAW78758;NP_000893;NP_009218;NP_009219;NP_009220;P08473;XP_006713709;XP_006713710 Hs.307734 1707048;1725803;1741449;1753185;1762267;1787920;1797866;2139333;2142298;2151009 G62078;GDB:181217;MME_1383;RH1499;SHGC-110011;SHGC-146123;SHGC-173666;SHGC-35301;SHGC-77474;SHGC-81275 CD10;DKFZp686O16152;MGC126681;MGC126707;NEP;SFE CALLA;OTTHUMP00000212961;OTTHUMP00000212963;OTTHUMP00000212964;OTTHUMP00000212965;OTTHUMP00000212966;atriopeptidase;common acute lymphocytic leukemia antigen;enkephalinase;membrane metallo endopeptidase;membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase);membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10);membrane metallo-endopeptidase variant 1;membrane metallo-endopeptidase variant 2;neprilysin;neprilysin-390;neprilysin-411;neutral endopeptidase 24.11;skin fibroblast elastase APPROVED protein-coding ENSG00000196549 HGNC:7154 00392 120520 REVIEWED 1318995 MMP15 matrix metallopeptidase 15 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. [provided by RefSeq, Jul 2008] 16 16 16 q13 42556594 42578117 + 58059282 58080805 + 58025378 58046901 + 1580863;2290417;2314949;2314952;2314950;6480464 15895410;15928670;19595018;9751409 10419448;10949161;11824946;12477932;12661033;14645246;15248212;15489334;16825197;16983145;17029196;19913121;20117087;20452482;20586027;20587546;20628086;20673868;21036765;21139048;21751260;21946350;21963094;22576687;22768148;23228395;23284291;7559440;7649159;9070935;9119382;9461298 4324 H3BT97;P51511 ABBA01025290;AC012182;AMYH02032112;AW161057;BC006412;BC036495;BC055428;BF507560;BT006715;CH471092;D85510;D86331;EF032329;NM_002428;Z48482 AAH36495;AAH55428;AAP35361;ABJ53423;BAA13071;BAA22225;CAA88373;EAW82965;EAW82966;NP_002419;P51511 Hs.80343 1682561;5113758 RH80095;RH91809 MMP-15;MT-MMP 2;MT2-MMP;MT2MMP;MTMMP2;SMCP-2 OTTHUMP00000164671;matrix metalloproteinase 15 (membrane-inserted);matrix metalloproteinase-15;membrane-type matrix metalloproteinase 2;membrane-type-2 matrix metalloproteinase APPROVED protein-coding ENSG00000102996 HGNC:7161 03775 602261 REVIEWED 735917 MMP16 matrix metallopeptidase 16 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The encoded protein activates MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16. [provided by RefSeq, Oct 2010] 8 8 8 q21.3 85244102 85534339 - 89049460 89339717 - 88037232 88327488 - 6480464;8554872 10419448;10949161;11230166;11278606;12477932;12661033;12879005;14645246;14741217;15044209;15380516;15489334;16344560;16983145;17217338;17419254;18784838;19240061;19265686;19913121;20207250;20452482;20587546;20628086;20673868;21048031;21823013;21926974;22164270;22348245;22417934;22688191;23453885;23793025;23796692;23974872;7559440;8619474;9070935;9092507;9110174;9119382;9396633 4325 E5RJA7;P51512 AB009303;ABBA01037379;ABBA01037380;ABBA01037381;AC037450;AC090575;AC090797;AC090980;AK314274;AL136588;AL832595;AMYH02018376;AMYH02018377;AMYH02018378;BC069500;BC075004;BC075005;CH471060;D83646;D83647;D85511;DA575789;DQ003082;DR002176;KF510324;NM_005941;U79292 AAH69500;AAH75004;AAH75005;AAX84515;BAA12022;BAA12023;BAA22226;BAA23742;BAG36934;CAB66523;EAW91651;EAW91652;NP_005932;P51512 Hs.492187;Hs.546267 1677666;1714691;1715047;1719143;1724173;1735786;1735790;1735818;1746067;1778542;1796328;2126705;2169854;2173410;5018909 A008T27;A008X11;AB021228;D5Wox36;D8S1400E;D8S1404E;D8S1425E;MMP16_920;RH120010;RH120085;RH121221;RH123289;RH91779;UniSTS:495993;WI-21150 C8orf57;DKFZp761D112;MMP-16;MMP-X2;MT-MMP 3;MT-MMP2;MT-MMP3;MT3-MMP;MT3MMP;MTMMP3 OTTHUMP00000224791;Putative transmembrane protein C8orf57;matrix metalloproteinase 16;matrix metalloproteinase-16;membrane-type matrix metalloproteinase 3;membrane-type-3 matrix metalloproteinase APPROVED protein-coding HGNC:7162 03776 602262 REVIEWED 1343267 MMP13 matrix metallopeptidase 13 (collagenase 3) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 11 q22.3 99975301 99988043 - 102813721 102826463 - 102942992 102955734 - 1580157;1582556;1582549;1582551;1582554;1582576;1582544;1582545;1582548;1580863;2306074;2306082;2306083;2293604;2293606;2306075;2306080;2306081;2293609;2293603;2293612;6480464;7207089;1582587;7207218;7207283;7207133;7207361;7240710;8552731;8554872;8699517;8661231;2325859;8694124 10027405;10773235;11054671;11585740;12392760;12974393;15156361;15259001;15517230;15782494;15944607;16037568;16112096;16128596;16230484;16961140;17243165;18373849;18698413;18709334;19134456;19258954;20056896;20472983;20948465;21382168;21856922;22890185;24244039;9553127 10074939;10419448;10514495;10788434;10930399;10947989;10949161;10986281;11032846;11108860;11883937;11903048;12009331;12009332;12139441;12149192;12192005;12270924;12426321;12477932;12734180;12814616;12878172;14558091;15067375;15489334;15551360;15640153;15654517;15693018;15763932;15947272;16024014;16144844;16167086;16331612;16356191;16398406;16507124;16648633;16877349;16917496;16948116;16984617;17009260;17033924;17076612;17116693;17138534;17151781;17196980;17208315;17300926;17311929;17373717;17373931;17395008;17495113;17607721;17623656;17626252;17697361;17724016;17786186;17822788;17853491;17876296;17905570;18006768;18091353;18225566;18262231;18289056;18289383;18308831;18366705;18487224;18528653;18593949;18753468;18755271;18971037;18976975;18985055;18987329;19038372;19094243;19124506;19180518;19185056;19248099;19248107;19248116;19296842;19301259;19333684;19415460;19422937;19442604;19453573;19494318;19551542;19561643;19562509;19564415;19615667;19779140;19784544;19787229;19821768;19883500;19902888;19913121;19948051;20043086;20067416;20097749;20131257;20175118;20196777;20376807;20452482;20463008;20484597;20485444;20506238;20573369;20587546;20615395;20628086;20634891;20667128;20672350;20673868;20683000;20685652;20706991;20827277;20857147;20878060;20878116;20936527;20948207;21039987;21048031;21107991;21142220;21187486;21191416;21205837;21211511;21278254;21339746;21344378;21344384;21437966;21508380;21539914;21720458;21849805;21881840;21913037;21938739;21959927;22006368;22032644;22084953;22095691;22102411;22128168;22153941;22158614;22270366;22273691;22327326;22488635;22505473;22573319;22590832;22610965;22710194;22710868;22722466;22782903;22869368;22950625;22992737;23132541;23162804;23334990;23417678;23465389;23467939;23732700;23762330;23847446;23898086;23913860;24008762;24023851;24180431;24360951;24398989;24563279;24613731;7607691;8125298;8207000;8576151;8609233;8663255;8969305;9065415;9119388;9562863 4322 G5E971;P45452;Q53H33 ABBA01039930;AK222748;AK292211;AK315341;AMYH02025490;AP000789;AP001486;AY256443;AY256444;AY741163;BC067522;BC067523;BC074807;BC074808;CA413743;CH471065;NG_021404;NM_002427;X75308;X81334;X81640 AAH67522;AAH67523;AAH74807;AAH74808;AAP78939;AAP78940;AAU13907;ADR82764;BAD96468;BAF84900;BAG37740;CAA53056;CAA57108;CAA57296;EAW67034;EAW67035;NP_002418;P45452 Hs.2936 1672881;1745735;1745737;1791788;1791790;1794876;2129471 D11S3989;GDB:632948;GDB:632950;PMC125702P1;PMC125702P2;PMC64850P1;STS-X75308 CLG3;MANDP1;MMP-13 OTTHUMP00000231260;OTTHUMP00000231261;collagenase 3;matrix metalloproteinase 13 (collagenase 3) APPROVED protein-coding ENSG00000137745 HGNC:7159 02522 600108;602111 REVIEWED 1322803 MMP19 matrix metallopeptidase 19 This gene encodes a member of a family of proteins that are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded protein is secreted as an inactive proprotein, which is activated upon cleavage by extracellular proteases. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013] 12 12 12 q14 1502 5855 - 56229214 56236767 - 55835430 55842983 - 1642023;1642025;1642022;6480464;8554872 11438176;12529376;15169894 10372554;10388526;10415718;10419448;10809722;10903435;10922468;10949161;11592092;11801661;12477932;12516088;12735638;12937269;14708597;14708598;15185874;15239678;15241558;15489334;15840104;15868410;16298901;17083473;17195013;17207965;17337906;17980449;18161657;19383643;19585142;19843707;19913121;20098411;20142769;20452482;20628086;20673868;21165953;21261556;21344390;21371008;21410660;21787393;21955474;22576687;22855183;22859522;23956056;8125298;8920941;9020145;9232430;9562866;9651395 4327 A6ND33;B4DNP3;F8W1C3;Q99542 ABBA01008390;ABBA01008391;AC023055;AK225939;AK297999;AK303202;AL545199;AMYH02026553;AY706993;BC030206;BC050368;BI761698;CH471054;NM_001272101;NM_002429;NR_073606;U37791;U38320;U38321;U38322;U38431;U89651;X92521;XM_006719401;XR_429102;Y08622 AAB63007;AAB63008;AAB63009;AAC51521;AAC99995;AAH50368;AAT97983;ADQ33096;BAG60305;BAG64292;CAA63299;CAA69913;EAW96844;EAW96845;NP_001259030;NP_002420;Q99542;XP_006719464 Hs.591033 1672887;1677052;1755855;1767682;2129202;2141730;2177276;5017611 A005E01;D12S2129;MMP19;RH65857;RH80350;SHGC-142692;SHGC-37198;WI-20946 MMP-18;MMP-19;MMP18;RASI-1 OTTHUMP00000243264;OTTHUMP00000243759;matrix metalloproteinase 18;matrix metalloproteinase 19;matrix metalloproteinase RASI;matrix metalloproteinase-18;matrix metalloproteinase-19;matrix metalloproteinase-beta19 APPROVED protein-coding HGNC:7165 03486 601807 REVIEWED 1317388 MMP1 matrix metallopeptidase 1 (interstitial collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes a secreted enzyme which breaks down the interstitial collagens, types I, II, and III. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] 11 11 11 q22.3 99822300 99830624 - 102660641 102668966 - 102789910 102798235 - 1581215;1582543;1580553;1582530;1582532;1582537;1582525;1582539;1582361;1582538;1582365;1582527;1582519;1582522;1582536;1582520;1582524;1582535;1582540;1582541;1582542;1580863;4890371;4890375;4890382;4890377;4890379;4890372;5131088;6480464;6484113;6907045;7207084;7207283;7207138;7207082;7206857;7207064;7207021;7207022;7207198;7207216;7207217;7207396;7207397;7207046;7207054;7207129;7207020;7207056;7207132;7207143;7240710;7207023;7207048;7207049;7207058;7207277;7207377;7207147;7207194;7207219;7207282;7207288;7207362;7207382;7207388;7207077;7207134;7207136;7207363;7207365;7206856;7207025;7207135;7207203;7207024;7207045;7207034;7207133;7207140;7207379;7207044;2312464;7207395;2298552;8547876;8549728;8549731;8549721;8549724;8549722;8549723;8549736;8549748;8549749;8549735;8549725;8549727;8549737;8549733;7794712;8548651;8549751;8549726;8693663;8693675;8699517;8554872 10485461;10644865;11014984;11157561;11179039;11375412;11489811;11546917;11691799;11705862;11720009;11875051;11876270;12051403;12167381;12175972;12364729;12473595;12622858;12768791;12845675;12892382;12952838;14499230;14550952;14606082;14674437;14675588;15009768;15073384;15259001;15312099;15363819;15561045;15619398;15621056;15662225;15718477;15780799;16124044;16164636;16210545;16293969;16681691;17178334;17363767;17502998;17893005;17980059;17986285;17996137;18030675;18366705;18837084;19191136;19221176;19293200;19321798;19506087;19622769;19734590;19755419;19796283;19797822;19843588;19916288;19951028;19963114;20082587;20089869;20406136;20484597;20616161;20655738;20808730;20852404;20935575;20944126;21108488;21154774;21167838;21275176;21288455;21554726;21835023;21856922;21866669;22198560;22286923;22401717;22571259;22860019;22926534;23064462;23087098;23173262;23441116;23478082;24011916;8531210;9804345;9972954 10224132;10419448;10706100;10859319;10922468;10947989;10986281;11359774;11359786;11381077;11485914;11528521;11586041;11598182;11751876;11762702;11824952;11831026;11836255;11918701;11934016;12005449;12009332;12032154;12034345;12050187;12054564;12054629;12060661;12071839;12145314;12149192;12177784;12225803;12229968;12393408;12432557;12477932;12515907;12517806;12528113;12572877;12651627;12667140;12672023;12676763;12692352;12706853;12767235;12784383;12787920;12788533;12837283;12861139;12873541;12880418;12904296;12949792;12960156;12969782;1311327;13129650;14512169;14515149;14550555;14558091;14581488;14626631;14659851;14669348;14679206;14692651;14705229;14707126;14707454;14729059;14730602;14764579;14962105;14982353;14982725;14986114;15127970;15142265;15149160;15182858;15184373;15194213;15200479;15257748;15274394;15288123;15288468;15291299;15308634;15319295;15337261;15350133;15375490;15383690;15459390;15467742;15476622;15489334;15499569;15528217;15534109;15610507;15611040;15612581;15617836;15638833;15654517;15654971;15661214;15688379;15701845;15707890;15728253;15737206;15754326;15767330;15804950;15817699;15818737;15832405;15855654;15864312;15866608;15879464;15930517;15939478;15944607;15955221;15957163;15965045;15972662;16076963;16080875;16098031;16103692;16128620;16168111;16191276;16202315;16210018;16213873;16214204;16248458;16256416;16267613;16273295;16278009;16278291;16288711;16301860;16302919;16311244;16321971;16353148;16356191;16359987;16386110;16405530;16410344;16424284;16453302;1645757;16532917;16538639;16569638;16580524;16623785;16638593;16676616;16714289;16739355;16767672;16767840;16774538;16807369;16850107;16877347;16890240;16899023;16912186;16921111;16921115;16937230;16945025;16967187;16972255;16972994;16990034;17000679;17009408;17033924;17035633;17050530;17077200;17109104;17125518;17145822;17151781;17178858;17181997;17245132;17303772;17311017;17316652;17335808;17339606;17352267;17363400;17373931;17383306;17429393;17434489;17441888;17473191;17475625;17488873;17508023;17537400;17543340;17558677;17564313;17589947;17599818;17607721;17611984;17625450;17663001;17669621;17697361;17709546;17714581;17765638;17901377;17919326;17921324;17949787;17980449;17990358;17996495;18006768;18006830;18025061;18025848;18027871;18028894;18035073;18060744;18089791;18097620;18164995;18178580;18194849;18212480;18259971;18261580;18276095;18298349;18314110;18323784;18360703;18426080;18439317;18447576;18449210;18459971;18468407;18469853;18472160;18480665;18483334;18496696;18503554;18506448;18508261;18552024;18557930;18565735;18569608;18586252;18588890;18597171;18602909;18617682;18619044;18619594;18621744;18625714;18625914;18634015;18636124;18674955;18676680;18705799;18710412;18719610;18755271;18798060;18802702;18807561;18818748;18823886;18835135;18851945;18852494;18853190;18952406;18988801;19006025;19019335;19020733;19040577;19054653;19055644;19056482;19094243;19099971;19132754;19134348;19170196;19188843;19197535;19243899;19246282;19250650;19279308;19282863;19296842;19302792;19303106;19307187;19318431;19336370;19345347;19379698;19381070;19383080;19398000;19424605;19427971;19432148;19435861;19442604;19464975;19480010;19489099;19489686;19497711;19504098;19507017;19507256;19508478;19527514;19542367;19543729;19550047;19551141;19551542;19575982;19577645;19578796;19584257;19585142;19590686;19591174;19602108;19608765;19610062;19620856;19625176;19628284;19634113;19639194;19643940;19659894;19661147;19664242;19681861;19692168;19708869;19723873;19736361;19787068;19789190;19821768;19836620;19883500;19885545;19892918;19901964;19902888;19906289;19911067;19913121;19915152;19923455;19951575;19953231;20031604;20038976;20039537;20060194;20078883;20091096;20095886;20102637;20111728;20160424;20192597;20201953;20204402;20219323;20225236;20301481;20357815;20392358;20423842;20435584;20437278;20452482;20452670;20453000;20455995;20460098;20463008;20463013;20467172;20471133;20483790;20485444;20517696;20538124;20565774;20584750;20587546;20609440;20616708;20617463;20628086;20628624;20648623;20662554;20673868;20701626;20702488;20706772;20813982;20826916;20827277;20855151;20860530;20873121;20971661;20979817;21039987;21042785;21048031;21070736;21108787;21143918;21144496;21161310;21170377;21224082;21232745;21241837;21244504;21244711;21251748;21277671;21279994;21336947;21344389;21345293;21357403;21382168;21397653;21410405;21424117;21432777;21440529;21451543;21454617;21481333;21519144;21523769;21531813;21539914;21544886;21547130;21591259;21606841;21637818;21640141;21670150;2167156;21672616;21673681;21694466;21707906;21709637;21715326;21753786;21756063;21757573;21761103;21770773;21835828;21858729;21872446;21881840;21890473;21909684;21925842;21935932;21948273;21952248;21964487;21964541;21966428;21988832;22005258;22011282;22024213;22030392;22092736;22117411;22177562;22184992;22207289;22210296;22253805;22323068;22333608;22341926;22367096;22369948;22390030;22439866;22442164;22487523;22515421;22573325;22580338;22655095;22683752;22712305;22776467;22788708;22819245;22853432;22863019;22868188;22889273;22901654;22922035;22936257;22965879;22992122;22992722;22993337;23060436;23063352;23098370;23108733;23116893;23147541;23155052;23164104;23217186;23222305;23239492;23253141;23313298;23322779;23343931;23357697;23370084;23377317;23383108;23389922;23418737;23418792;23441173;23485169;23497408;23500593;23504324;23509928;23527212;23601157;23603351;23608755;23614742;23639976;23644699;23644943;23650722;23653009;23676485;23687338;23696797;23705892;23708302;23744893;23762835;23763354;23776649;23794948;23800176;23800300;23814055;23815085;23819551;23840483;23870768;23873107;23874603;23893803;23900981;23902766;23929359;23934131;23935888;23946168;23978194;24001791;24025334;24043512;24058270;24063540;24075964;24134675;24212294;24268990;24289089;24293148;24352036;24390660;24472657;24479343;24505369;24513266;24755160;24760149;24838892;24843171;24980707;24995609;2557822;3009463;3027129;3030290;3032950;3037355;7523391;7641497;7656013;7896811;7998967;8027075;8031754;8090713;8125298;8216228;8226919;8278810;8609233;8921407;9063449;9484219;9558113;9688535;9737711;9920899 4312 B4DN15;P03956;Q53G95 ABBA01039931;AJ002550;AK024818;AK098450;AK130687;AK223034;AK223035;AK223036;AK223056;AK223281;AK225495;AK297723;AK301340;AMYH02025488;AP000619;AY769434;BC013118;BC013875;BT006874;BT020147;CH471065;DC385245;DQ399597;M13509;M15996;M16567;NG_011740;NM_001145938;NM_002421;U78045;X05231;X54925 AAA35699;AAA35700;AAA52033;AAB36941;AAH13118;AAH13875;AAP35520;AAV28732;AAV38949;ABD92796;ABM81655;ABM84830;BAD96754;BAD96755;BAD96756;BAD96776;BAD97001;BAG60077;BAG62888;CAA28858;CAA38691;EAW67031;NP_001139410;NP_002412;P03956 Hs.83169 1653581;1703478;1712110;1742571;1791792;1791796;1792474;1792476;1794890;1855507;2151235;2217616 G54104;GDB:197898;MMP1;MMP1_3098;PMC125702P3;PMC125702P5;PMC151710P3;PMC151710P4;PMC65699P1;RH17661;SHGC-11954;SHGC-82595 CLG;CLGN OTTHUMP00000045866;fibroblast collagenase;interstitial collagenase;matrix metalloprotease 1;matrix metalloproteinase 1;matrix metalloproteinase 1 (interstitial collagenase) APPROVED protein-coding ENSG00000196611 HGNC:7155 00384 120353;226600;606963 REVIEWED 1602337 MMP23A matrix metallopeptidase 23A (pseudogene) This locus represents the partially duplicated copy of the MMP23B gene, and therefore considered a pseudogene. This pseudogene is part of a duplicated region of chromosome 1p36.3. It belongs to the more centromeric copy of the duplicated region. [provided by RefSeq, Jul 2008] 1 1 p36.33 1631378 1633247 + 1699939 1701808 + 6480464 10419448;10949161;11328856;15483646;19965868;9740677;9750192;9988691 8511 ABBA01016066;AF057061;AF057062;AF086353;AL031282;AMYH02000108;NR_002946 AAC62617;AAC62618 Hs.671760 1663298;1663300;1754011;2152862;2164035 A002A02;D1S3527;HSC10E022;RH41826;SHGC-132055 MIFR;MIFR-1;MMP21 APPROVED pseudo ENSG00000215914 HGNC:7170 04502 603320 PROVISIONAL 1318675 MMP20 matrix metallopeptidase 20 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011] 11 11 11 q22.3 99609116 99657267 - 102447566 102496063 - 102576835 102625332 - 1580863;6480464;7240710;8554872;8699517 10419448;10634581;10922468;10949161;11706946;15296943;15744043;17611094;18434575;18714142;19834535;19913121;19966041;20379614;20484597;20628086;21144496;21466263;21504268;22330321;23241590;23355523;23535732;23625376;23953525;8921407;9398237 9313 O60882 ABBA01039931;AJ296177;AMYH02025486;AP000851;AY673603;CH471065;NG_012151;NM_004771;Y12779 AAI52742;AAT70722;CAA73317;CAC14668;EAW67024;NP_004762;O60882 Hs.591946 1737769;1782380;1782382;2111770 D11S3368;D11S4471;SHGC-153582;SHGC-153765 AI2A2;MMP-20 OTTHUMP00000237846;enamel metalloproteinase;matrix metalloproteinase 20 (enamelysin);matrix metalloproteinase-20 APPROVED protein-coding ENSG00000137674 HGNC:7167 05218 604629;612529 REVIEWED 734118 MMP14 matrix metallopeptidase 14 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 3168679 3179688 + 23305742 23316809 + 22836533 22847600 + 1582586;1582578;1582583;1582581;1582351;1582577;1582590;1582579;1582568;1582569;1582575;1582563;1582576;1582580;1582584;1582570;1582588;1580863;2314954;2314955;2314951;2314950;6480464;6484113;6907045;1582587;8554872 10731924;10773235;10878552;11034943;11877705;12452868;12477149;12526080;15300177;15920147;15963646;16037568;16077081;16147977;16171603;16461815;16609908;16820601;9158005;9724118;9751409;9848780 10419448;10529239;10721699;10922468;10930399;10947989;10949161;11178970;11382769;11448964;11741954;11751414;11773076;11779859;11809713;11839588;11844598;11854269;11911461;11917104;11920503;11928813;11970960;12004057;12054629;12115722;12145196;12149192;12169394;12185585;12194986;12220632;12372458;12393408;12427871;12464176;12473650;12477932;12488433;12587534;12661033;12672023;12727228;12810672;12869573;12879005;12904296;14583471;14597417;14645246;14670950;14673954;14707454;14718544;14729679;15247230;15260832;15276180;15350133;15351710;15381670;15381707;15450852;15466200;15466865;15489334;15516694;15525652;15528467;15554353;15558018;15563089;15632106;15665118;15743799;15756447;15831939;15841326;15878869;15882863;15901740;15911696;15967115;16140936;16219679;16234249;16281052;16419154;16425263;16473349;16525713;16525718;16551362;16551853;16627478;16636666;16686598;16776850;16877349;16956391;16971509;16983145;17050542;17050733;17067460;17081065;17099140;17140440;17153464;17175151;17189319;17219425;17283058;17329256;17332756;17425593;17475671;17525276;17591781;17618273;17640303;17650075;17668281;17669621;17670887;17886098;17928399;17938169;17943163;17962943;17991754;18045645;18164686;18174174;18196535;18206415;18223680;18227728;18267120;18307173;18329693;18354229;18368597;18413312;18423448;18428024;18441011;18454303;18495869;18519667;18541723;18566294;18571410;18602101;18617643;18655030;18661187;18663148;18784838;18802920;18829229;18927121;18955496;19006025;19010933;19020757;19023892;19047908;19074885;19123976;19136391;19147814;19197139;19208838;19211836;19232058;19243022;19248098;19272160;19286653;19330734;19339693;19406172;19409422;19458085;19487339;19509114;19523958;19551841;19571574;19577357;19586554;19610062;19654316;19667067;19709349;19753302;19780834;19820359;19855192;19887621;19901267;19913121;19934222;19961596;20050683;20056911;20110530;20198326;20215637;20233321;20452482;20453000;20471446;20471961;20483788;20484597;20529824;20579139;20586027;20587546;20589835;20599698;20605790;20608975;20628086;20628624;20629539;20634891;20660624;20666777;20673868;20706772;20721961;20724289;20809186;20837484;20946474;21048031;21057545;21062896;21139048;21146836;21176152;21193411;21239435;21276823;21288898;21298348;21372132;21419107;21512861;21518755;21549099;21571860;21628952;21641389;21669197;21671177;21706048;21777927;21795678;21832072;21846327;21858102;21925226;21965271;21988832;21993836;22002053;22002060;22006368;22007770;22038627;22118498;22123215;22138224;22159414;22200690;22327326;22330140;22338226;22342364;22407449;22527932;22527983;22534634;22564723;22678797;22679501;22835601;22843853;22855183;22893718;22922033;22922740;22963260;23102905;23166329;23220260;23222716;23236386;23314917;23354307;23357422;23373994;23383108;23394613;23413031;23439492;23470162;23500527;23548172;23548906;23605953;23606746;23629968;23640058;23733191;23756810;23773714;23783274;23787075;23796708;23812425;24006261;24075964;24084442;24156018;24164895;24165131;24180670;24196787;24202705;24323769;24335752;24384087;24399074;24485069;24492617;24733393;24753582;24878529;24898588;24976399;25119918;7649159;7708715;7721107;7998967;8015608;8216228;8530054;8621565;8663255;8663332;8706726;8804434;9119382;9422789;9461298;9688535;9724659 4323 F8VP90;F8W1B7;P50281 AB011056;ABBA01061286;AF158733;AK291325;AK312657;AL135998;AMYH02028849;AMYH02028850;AY795074;BC039581;BC064803;BQ009340;CH471078;D26512;HE978355;HY075830;NM_004995;U41078;X83535;X90925;Z48481 AAA83770;AAF24178;AAH64803;AAV40837;BAA05519;BAC53889;BAF84014;BAG35540;CAA58519;CAA62432;CAA88372;CCK73138;EAW66236;EAW66237;NP_004986;P50281 Hs.2399 1699456;1796326;5113046;5491340 MMP14_918;Mmp14;RH103319;RH91125 1;MMP-14;MMP-X1;MT-MMP;MT-MMP 1;MT1-MMP;MT1MMP;MTMMP1;WNCHRS OTTHUMP00000027917;matrix metalloproteinase 14 (membrane-inserted);matrix metalloproteinase 14, membrane-inserted;matrix metalloproteinase-14;membrane type 1 metalloprotease;membrane-type matrix metalloproteinase 1;membrane-type-1 matrix metalloproteinase APPROVED protein-coding ENSG00000157227 HGNC:7160 02856 277950;600754 REVIEWED 1344169 MMP23B matrix metallopeptidase 23B This gene (MMP23B) encodes a member of the matrix metalloproteinase (MMP) family, and it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. This gene belongs to the more telomeric copy of the duplicated region. [provided by RefSeq, Jul 2008] 1 1 1 p36.3 830 2701 - 1567060 1570030 + 1631681 1634654 + 1580863;6480464 10419448;10949161;11328856;12477932;15483646;15489334;16710414;21988832;9740677;9750192;9988691 8510 B4DMZ6;D6REP6;H0Y6I4;H0YA69;H0YAE5;J3KRS4;O75086;O75900 AB010961;AB010962;AB031068;ABBA01016062;AF055334;AF056200;AJ005256;AK297700;AL691432;AMYH02000108;BC025719;FO704657;NM_006983;XM_005244810;XM_006710993 AAC62616;AAC63527;AAC63528;AAC63529;AAH25719;BAA24833;BAA24834;BAA92769;BAG60058;CAB38176;NP_008914;O75900;XP_005244867;XP_006711056 Hs.192316 MIFR;MIFR-1;MMP-21;MMP-22;MMP-23;MMP22;MMP23A OTTHUMP00000083434;OTTHUMP00000083435;OTTHUMP00000220711;femalysin;matrix metalloproteinase 22;matrix metalloproteinase 23B;matrix metalloproteinase in the female reproductive tract;matrix metalloproteinase-21;matrix metalloproteinase-22;matrix metalloproteinase-23 APPROVED protein-coding ENSG00000189409 HGNC:7171 04503 603321 REVIEWED 1323053 MMP17 matrix metallopeptidase 17 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene is considered a member of the membrane-type MMP (MT-MMP) subfamily. However, this protein is unique among the MT-MMP's in that it is a GPI-anchored protein rather than a transmembrane protein. The protein activates MMP-2 by cleavage. [provided by RefSeq, Jul 2008] 12 12 12 q24.3 131939471 131953072 + 132312941 132336316 + 131828396 131851771 + 1580863;6480464;8554872 10419448;10471807;10543448;10551873;10567400;10640822;10799478;10949161;12477932;12661033;12962706;14645246;14701864;16686598;19426156;20019845;20452482;20587546;20673868;21828052;22262494;22674854;22683712;24250222;8640782;9878265 4326 F5GWR3;F5GZA7;F5H209;F5H249;F5H846;F5H881;Q8IWC3;Q9ULZ9 AB021225;ABBA01032802;AC131009;AMYH02027570;BC040507;BC045610;BX389435;CA489162;CH471054;NM_016155;X89576 AAH40507;AAH45610;BAA82707;CAA61753;EAW98528;NP_057239;Q9ULZ9 Hs.709245 1678035;1678661;2120832;2180582 RH46995;RH48667;RH80241;RH91194 MMP-17;MT-MMP 4;MT4-MMP;MT4MMP;MTMMP4 OTTHUMP00000237716;OTTHUMP00000237719;matrix metalloproteinase 17 (membrane-inserted);matrix metalloproteinase-17;membrane-type matrix metalloproteinase 4;membrane-type-4 matrix metalloproteinase APPROVED protein-coding ENSG00000198598 HGNC:7163 03793 602285 REVIEWED 7243077 MMP24-AS1 MMP24 antisense RNA 1 20 20 q11.22 33864136 33865960 - 35276333 35278157 - 16344560;20585627;8889548 101410538 ABBA01019165;AL121753;AMYH02036997;BM690891;BQ930800;BQ943998;BQ953249;BU159548;BU527050;CB988153;CN479177;HY005765;NR_102705;NR_102706 Hs.356273;Hs.657829;Hs.715494;Hs.732566 1730159;1818988;1820390;1849727;1972396;1972398;1972400;1972402;1972406 A001X38;D20S123E;ECD10559;ECD11270;REN57083;REN57084;REN57085;REN57086;REN57088 ncrna HGNC:44421 VALIDATED 732592 MMP24 matrix metallopeptidase 24 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 by cleavage. The gene has previously been referred to as MMP25 but has been renamed MMP24. [provided by RefSeq, Jul 2008] 20 20 20 q11.2 30583249 30613409 + 33814539 33864804 + 35226736 35277001 + 1580863;6480464;8554872 10363975;10419448;10640822;11457723;11780052;12477932;12661033;12879005;14990567;17952761;18062926;18391951;18839057;19056867;19403421;19913121;20546612;20587546;20628086 10893 Q86VV6;Q9Y5R2 AB021227;ABBA01019165;AF131284;AL121753;AMYH02036994;AMYH02036995;AMYH02036996;AMYH02036997;BC047614;CH471077;DQ300264;NM_006690;R60687 AAD42962;AAH47614;AAI72450;ABC17785;BAA82967;EAW76222;NP_006681;Q9Y5R2 Hs.715494 1730159;1745949;1796330;1799242;1800336;1800540;1803584;1809286;1812002;1818054;1820390;1822426;1823232;1827450;1831358;1831796;1831798;1833848;1835602;1839196;1839834;1843392;1843948;1972216;1972218;1972220;1972222;1972224;1972226;1972228;1972230;1972232;1972234;1972236;1972238;1972240;1972242;1972244;1972246;1972248;1972250;1972252;1972254;1972256;1972258;1972260;1972262;1972264;1972266;1972268;1972270;1972272;1972274;1972276;1972278;1972280;1972282;1972284;1972286;1972288;1972290;1972292;1972294;1972296;1972298;1972300;1972302;1972304;1972306;1972308;1972310;1972312;1972314;1972316;1972318;1972320;1972322;1972324;1972326;1972328;1972330;1972332;1972334;1972336;1972338;1972340;1972342;1972344;1972346;1972348;1972350;1972352;1972354;1972356;1972358;1972360;1972362;1972364;1972366;1972368;1972370;1972372;1972374;1972376;1972378;1972380;1972382;1972384;1972386;1972388;1972390;1972392;1972394;1972396;1972398;1972400;1972402;2184980;2214992;2214994;2214996;2214998;2215000;2215002;2215004;2215006;2215008;2215010;2215012;2215014;2215016;2215018;2215020;2215022;2215024;2215026;5116822 A003A31;D20S123E;ECD00469;ECD01027;ECD01130;ECD02694;ECD05633;ECD07006;ECD10083;ECD11270;ECD12301;ECD12705;ECD14841;ECD16815;ECD17035;ECD17036;ECD18070;ECD18957;ECD20778;ECD21100;ECD22905;ECD23186;MMP24_1521;REN56993;REN56994;REN56995;REN56996;REN56997;REN56998;REN56999;REN57000;REN57001;REN57002;REN57003;REN57004;REN57005;REN57006;REN57007;REN57008;REN57009;REN57010;REN57011;REN57012;REN57013;REN57014;REN57015;REN57016;REN57017;REN57018;REN57019;REN57020;REN57021;REN57022;REN57023;REN57024;REN57025;REN57026;REN57027;REN57028;REN57029;REN57030;REN57031;REN57032;REN57033;REN57034;REN57035;REN57036;REN57037;REN57038;REN57039;REN57040;REN57041;REN57042;REN57043;REN57044;REN57045;REN57046;REN57047;REN57048;REN57049;REN57050;REN57051;REN57052;REN57053;REN57054;REN57055;REN57056;REN57057;REN57058;REN57059;REN57060;REN57061;REN57062;REN57063;REN57064;REN57065;REN57066;REN57067;REN57068;REN57069;REN57070;REN57071;REN57072;REN57073;REN57074;REN57075;REN57076;REN57077;REN57078;REN57079;REN57080;REN57081;REN57082;REN57083;REN57084;REN57085;REN57086;RH135475;sY3200;stSG636480;stSG636481;stSG636482;stSG636483;stSG636484;stSG636485;stSG636486;stSG636487;stSG636488;stSG636489;stSG636490;stSG636491;stSG636492;stSG636493;stSG636494;stSG636495;stSG636496;stSG636497 MMP-24;MMP25;MT-MMP 5;MT-MMP5;MT5-MMP;MT5MMP;MTMMP5 OTTHUMP00000206098;matrix metalloproteinase 24 (membrane-inserted);matrix metalloproteinase-24;membrane-type 5 matrix metalloproteinase;membrane-type matrix metalloproteinase 5;membrane-type-5 matrix metalloproteinase APPROVED protein-coding ENSG00000125966 HGNC:7172 05338 604871 REVIEWED 1315373 MMP27 matrix metallopeptidase 27 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008] 11 11 11 q24 99723614 99737667 - 102562415 102576468 - 102691684 102705737 - 6480464;8554872 10419448;12975309;19913121;20484597;20628086;23443559;23535732 64066 Q9H306 ABBA01039931;AF195192;AMYH02025488;AP000647;AP000851;AY358752;BX102293;CH471065;NM_022122 AAG28453;AAI40434;AAQ89112;EAW67026;NP_071405;Q9H306 Hs.534479 1681775;2168779;2217618 D11S1192;MMP27_2856;RH92831 MMP-27 OTTHUMP00000237909;matrix metalloprotease 27;matrix metalloproteinase 27;matrix metalloproteinase-27 APPROVED protein-coding ENSG00000137675 HGNC:14250 07025 REVIEWED 1319622 MMP21 matrix metallopeptidase 21 This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, and disease processes, such as asthma and tumor metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. [provided by RefSeq, May 2013] 10 10 10 q26.13 121230454 121239822 - 127455022 127464390 - 125766453 125775821 - 1580863;6480464 11994741;12490321;12617721;14691307;15015597;16641547;16984259;17873896;18633436;18768525;19601983;19921252;21067565;21590459;21656525;23275114 118856 Q8N119 ABBA01034169;ABBA01034170;AF331526;AF520613;AL158835;AL360176;AMYH02023996;AY121358;AY885252;CH471066;NM_147191 AAI56369;AAI72493;AAM75352;AAM78033;AAM92903;AAW62254;EAW49230;NP_671724;Q8N119 Hs.314141 2109521;2183563 MMP21_1943;SHGC-57886 MMP-21 OTTHUMP00000020708;matrix metalloproteinase 21;matrix metalloproteinase-21 APPROVED protein-coding ENSG00000154485 HGNC:14357 07003 608416 REVIEWED 1323102 MMP28 matrix metallopeptidase 28 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] 17 17 17 q12 31003010 31032922 - 34083316 34122711 - 35765857 35795636 - 1580863;6480464;8554872 11121398;11255011;11574168;12164918;12477932;12975309;14506071;14730609;15185874;15593191;15953044;16344560;18778487;19375502;19379669;19921252;20003223;20144149;21615884;21723775;21801383;22040290;23549873;23803888;23964118;24167355;24385575;24710352 79148 B3KV06;C0H5X0;Q9H239 AA813101;ABBA01011234;ABBA01011235;AC006237;AC015849;AF219624;AF315683;AF330002;AF336346;AK122604;AMYH02033352;AMYH02033353;AMYH02033354;AY358987;BC002631;BC011774;BM702847;CH471147;DA761282;DA768574;HY027589;NM_001032278;NM_024302;NM_032950;NR_111988 AAG41981;AAH02631;AAH11774;AAK01480;AAK01706;AAL15619;AAQ89346;ADZ15905;BAG53618;EAW80128;EAW80129;NP_001027449;NP_077278;NP_116568;Q9H239 Hs.380710 1335292;1797868 D17S1833;MMP28_924.2 MM28;MMP-25;MMP-28;MMP25 epilysin;matrix metalloprotease MMP25;matrix metalloproteinase 28;matrix metalloproteinase-28;putative MMP28 gene product;uncharacterized protein LOC79148 APPROVED protein-coding ENSG00000271447 HGNC:14366 07464 608417 REVIEWED 736005 MMP7 matrix metallopeptidase 7 (matrilysin, uterine) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 11 q21-q22 99552782 99563021 - 102391239 102401478 - 102520508 102530747 - 1582393;1582373;1582385;1582397;1582388;1582381;1580863;1302333;2298522;5129528;6480464;6484113;6907045;7207145;8547909 11406539;12923405;15132981;15489001;15762290;15976963;16769909;17352221;19596921;7616276;9549496 10419448;10504457;10859319;10986281;11220743;11247893;11320086;11323016;11326276;11375993;11701474;11718469;11729324;11801551;11825873;11841844;11925859;11927011;11979071;11983918;12005165;12034345;12034400;12112311;12117418;12464266;12477932;12579270;12684625;12759241;12759346;12808021;12958188;12963695;14516315;14744783;1497627;15040016;15102692;15149334;15239678;15342556;15375490;15489334;15523695;15543138;15618645;15652345;15696117;15725655;15800927;15809719;15860507;15866216;15894268;15930031;15979995;16097959;16115946;16142384;16200075;16248458;16278009;16286510;16356191;16405530;16455621;16474169;16474379;16476739;16494848;16804904;16940985;16956593;17009118;17009258;17029196;17038551;17114341;17125518;17129995;17145820;17145868;17153464;17181997;17209789;17219436;17310281;17373931;17396032;17487834;17502620;17507989;17554258;17564313;17607721;17671679;17672933;17695544;17718429;17728005;18006768;18023162;18036564;18179407;18202161;18214300;18308831;18329694;18340552;18364512;18385523;18411043;18422740;18447576;18448157;18485588;18500535;18511876;18548257;18600430;18636198;18644839;18648013;18653469;18674869;18695873;18713744;18715618;18721140;18768525;18798254;18805052;18823373;18931651;18955490;18958543;18974372;19000448;19016757;19020757;19022775;19094228;19121849;19132754;19173304;19181662;19221016;19231585;19266094;19303106;19317620;19329997;19360357;19420105;19421758;19435861;19465902;19505922;19586554;19608871;19634113;19643940;19654318;19676133;19679556;19682489;19690403;19690958;19701966;19724852;19728912;19730683;19785773;19787626;19789190;19834535;19929564;20007614;20040080;20096949;20113256;20132413;20139113;20146992;20156184;20180812;20192597;20219015;20230842;20300917;20347338;20359117;20360147;20372795;20375326;20452482;20473942;20484597;20491537;20584750;20587546;20605361;20605794;20624652;20628624;20662554;20673868;20680712;20707923;20730428;20736794;20813660;20826916;20827277;20853162;20872971;20939893;20979817;21048031;21116502;21165404;21255765;21302026;21315773;21336735;21455340;21481787;21516345;21517234;21593056;21707759;21722074;21764478;21787888;21814482;21858178;21901248;21912055;21935919;21981819;21999204;22024063;22042554;22047080;22051851;22076613;22089237;22095947;22113040;22131018;22200690;22215634;22227189;22246095;22268124;22292085;22368250;22417142;22524815;2253219;22582975;22621753;22631636;22645147;22645431;22883281;22936257;22944341;22957090;22957785;22974215;23065739;23076342;23249718;23300791;23343931;23344661;23437250;23535732;23562717;23644699;23671562;23682078;23725125;23783374;23790336;23803888;23807291;23867815;23893803;23895900;23953525;24043512;24143235;24261884;24270662;24283384;24400123;24425843;24469951;24613844;24903600;24980707;2550050;2844164;7694569;7756291;7896811;7980522;8125298;8216228;8294454;8786845;8921407;8978768;9148753;9344615;9349239;9360944;9548733;9737711;9888422 4316 P09237;Q53GF1 ABBA01039931;AI675414;AK222980;AK293359;AK309687;AMYH02025486;AP001830;AY795972;BC003635;BP332706;CH471065;DQ399600;GN341824;L22520;L22521;L22522;L22523;L22524;NM_002423;X07819;Z11887 AAC37543;AAH03635;AAV40839;ABD92799;ABM84058;ABW03571;BAD96700;BAG56875;CAA30678;CAA77942;CAY39331;EAW67023;NP_002414;P09237 Hs.2256 2121115;5122364 RH46951;SGC35374 MMP-7;MPSL1;PUMP-1 OTTHUMP00000045867;matrilysin;matrin;matrix metalloproteinase 7;matrix metalloproteinase 7 (matrilysin, uterine);matrix metalloproteinase-7;pump-1 protease;uterine matrilysin;uterine metalloproteinase APPROVED protein-coding ENSG00000137673 HGNC:7174 01525 178990 REVIEWED 1351878 MMP8 matrix metallopeptidase 8 (neutrophil collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is stored in secondary granules within neutrophils and is activated by autolytic cleavage. Its function is degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 11 q22.3 99743725 99756878 - 102582526 102595734 - 102711795 102724954 - 1582626;1582641;1580863;2306084;2298552;2306086;2298553;6480464;7207131;1582587;8554872 10502722;10773235;14602136;15194590;16339461;16432074;17974962;18366705 10353844;10419448;10859319;10922468;10949161;10986281;11400153;11731274;12054629;12101112;12117418;12149192;12477932;1330697;14550288;15042023;15187163;15367487;15489334;15661397;15888067;16134994;16192646;16242329;16259988;1646048;1662606;16872847;16877349;16928431;16940985;17178858;17418871;17473191;17567680;17584650;17728507;17932311;18278188;18428024;18626311;18700005;18768525;18818748;18980523;19019335;19064570;19074885;19094243;19124506;19159011;19180518;19330028;19358835;19442604;19460733;19527514;19674746;19708869;19745165;19751716;19834535;19850743;19880617;19913121;19995403;20042585;20140262;20184870;20356362;20371206;20442866;20452482;20453486;20484597;20485444;20587546;20621951;20626027;20628086;20659259;20673868;20708200;20809029;20889295;21048031;21196908;21432777;21437624;21515330;2159879;2164002;21642878;2169256;2169766;21697883;2176876;21784671;21857935;21872914;21906737;21920499;21925226;21994255;22092455;22113040;22179173;22257687;22311494;22382449;22487237;22808470;23054081;23259856;23313321;23512982;23535732;23632023;23851508;23865360;23953866;23962148;23967183;24065531;24099107;24267248;24651234;25016699;7656015;7998967;8137810;8216228;8307185;8397318;8631924;8639592;8921407;9042108;9249047;9558113;9578462;9655333;9688535;9737711 4317 E9PIY7;E9PJB3;E9PL87;H7C1M3;P22894 ABBA01039931;AK292659;AK303388;AK303511;AK313374;AMYH02025488;AP000647;BC074988;BC074989;BC144094;CH471065;DQ141306;DW009698;J05556;NG_012101;NM_002424;XM_006718841 AAA88021;AAH74988;AAH74989;AAZ38714;BAF85348;BAG64444;BAG64542;EAW67027;NP_002415;P22894;XP_006718904 Hs.161839 1742509;1796334;2160297 D11S4330;GDB:197833;MMP8_926 CLG1;HNC;MMP-8;PMNL-CL OTTHUMP00000236265;OTTHUMP00000236267;PMNL collagenase;matrix metalloproteinase 8 (neutrophil collagenase);matrix metalloproteinase-8;neutrophil collagenase APPROVED protein-coding ENSG00000118113 HGNC:7175 00385 120355 REVIEWED 1353163 MMPL1 matrix metalloproteinase-like 1 1580863 9653642 4328 O43923 AJ003144;NM_004142 HGNC:7177 1317990 MMP25 matrix metallopeptidase 25 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3302227 3316272 + 3096682 3110727 + 3046681 3060726 + 1580863;6480464 10419448;10628838;10706098;11034316;11226436;11282999;12477932;12860995;14583471;14755462;15149845;17513868;18936094;19726693;19834535;19913121;20237496;20308072;20337648;20501611;20587546;20628086;20672350;22367194;23851692;24250222;8663332;9653642 64386 Q9NPA2 AB042328;ABBA01026726;AC108134;AF145442;AF185270;AJ003144;AJ003147;AJ239053;AJ272137;AMYH02031280;BC111412;CB529891;CH471112;NM_022468 AAF66697;AAG17007;AAI67800;BAB20584;CAA05900;CAA05902;CAB94713;CAC03490;EAW85413;EAW85415;NP_071913;Q9NPA2 Hs.654979 1676522;1703214;1847889;2142717;2181119 RH15736;RH68424;SGC32543;SHGC-61127;WI-15307 MMP-25;MMP20;MMP20A;MMPL1;MT-MMP 6;MT-MMP6;MT6-MMP;MT6MMP;MTMMP6 leukolysin;matrix metallopeptidase-like 1;matrix metalloproteinase 20;matrix metalloproteinase 25;matrix metalloproteinase-25;matrix metalloproteinase-like 1;membrane-type 6 matrix metalloproteinase;membrane-type matrix metalloproteinase 6;membrane-type-6 matrix metalloproteinase APPROVED protein-coding ENSG00000008516 HGNC:14246 07090;07492 608482 REVIEWED 1352887 MMRN1 multimerin 1 Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008] 4 4 4 q22 88113183 88172912 + 90816003 90875780 + 89894856 89954629 + 1580863;6480464;8554872 10828608;12477932;12665801;15452129;15489334;15583744;15849733;16263699;16335952;16363244;17955473;18452976;19132231;19175495;19915575;20237496;21058943;23443559;7629143;8514871;8652809;9189649;9372017;9454761;9798985 22915 E7EPG1;Q13201 ABBA01063569;ABBA01063570;AC093759;AK125557;AK302421;AK313566;AMYH02009713;BC063848;BM126740;CH471057;NG_032895;NM_007351;U27109;XM_005262856 AAC52065;AAH63848;AAY40957;ADR82763;BAC86201;BAG36340;BAH13704;EAX06037;EAX06038;NP_031377;Q13201;XP_005262913 Hs.268107 1654928;1674155;1796336;2133650;2177703 MMRN_212;SHGC-34230;SHGC-59264;SHGC-59682;SHGC-59858 ECM;EMILIN4;GPIa*;MMRN EMILIN-4;OTTHUMP00000161558;OTTHUMP00000219844;elastin microfibril interface located protein 4;elastin microfibril interfacer 4;endothelial cell multimerin;glycoprotein Ia*;multimerin-1 APPROVED protein-coding ENSG00000138722 HGNC:7178 03267 601456 REVIEWED 1347422 MMP26 matrix metallopeptidase 26 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The encoded protein degrades type IV collagen, fibronectin, fibrinogen, casein, vitronectin, alpha 1-antitrypsin, alpha 2-macroglobulin, and insulin-like growth factor-binding protein 1, and activates MMP9 by cleavage. The protein differs from most MMP family members in that it lacks a conserved C-terminal protein domain. [provided by RefSeq, Jul 2008] 11 11 11 p15 5124616 5128852 + 5009424 5013659 + 4988194 4992429 + 1580863;6480464 10419448;10801841;10824119;10987280;11389678;11841844;11889136;11931652;12119297;12477932;12586837;12969699;14532275;14744773;15273280;15333466;15350356;15489334;15574774;15601912;15625428;15816845;16641547;16809379;16940965;16984259;17176253;17873896;18210030;18765015;19336475;19448419;19674198;19895737;19921252;19956866;20074375;20230842;20491537;20628624;21255765;21805034;21945733;23634280;23754174;24318970;24565841 56547 Q9NRE1 ABBA01028642;AC018375;AF230354;AF248646;AF291664;AF291665;AJ251531;AMYH02024250;BC101541;BC101543;CH471064;NM_021801 AAF80180;AAF82359;AAG00603;AAG02470;AAI01542;AAI01544;CAC08821;EAW68817;NP_068573;Q9NRE1 Hs.204732 1806126;1807818;1811456;1811710;1814772;1818150;2050382;2050384;2050386;2050388;2050390;2050392;2050394;2050396;2050398;2050400;2050402;2050404;2050406;2050408;2050410;2050412;2050414;2050416;2050418;2050420;2050422;2050424;2050426;2050428;2050430;2050432;2105204;2105206;2105208;2105210 ECD04017;ECD04884;ECD06728;ECD06859;ECD08417;ECD10132;REN96344;REN96345;REN96346;REN96347;REN96348;REN96349;REN96350;REN96351;REN96352;REN96353;REN96354;REN96355;REN96356;REN96357;REN96358;REN96359;REN96360;REN96361;REN96362;REN96363;REN96364;REN96365;REN96366;REN96367;REN96368;REN96369;stSG610671;stSG610672;stSG610673;stSG610674 MGC126590;MGC126592;MMP-26 OTTHUMP00000069244;endometase;matrilysin 2;matrilysin-2;matrix metalloproteinase 26;matrix metalloproteinase-26 APPROVED protein-coding ENSG00000167346 HGNC:14249 05683 605470 REVIEWED 1351083 MMVP2 myxomatous mitral valve prolapse 2 ASSOCIATED WITH Mitral Valve Prolapse, Myxomatous 2 (inferred) 7240710 12707861 352956 1336021;1337036 D11S1331;D11S1923 HGNC:19145 607829 1322933 MMRN2 multimerin 2 This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012] 10 10 10 q23.2 82698335 82720425 - 88695297 88717425 - 86935540 86970240 - 1580863;6480464;8554872 11559704;12221002;12477932;14702039;15489334;16335952;16420310;18327805;19056867;21988832;22020326;22334695;22532453;23979707;24250222;7933987;8889548 79812 Q9H8L6;R4GMY6;V9GY37;V9GY43;V9GYS9 ABBA01033688;ABBA01033689;AC025268;AK023527;AK293822;AK304727;AK308401;AL136982;AMYH02023487;AMYH02023488;BC064415;BC072456;BC094744;BM673127;CH471142;DC416005;NG_032913;NM_024756;W38498;XM_005270153;XM_006717970 AAH64415;AAH94744;BAB14599;BAG57226;BAG65490;EAW80319;NP_079032;Q9H8L6;XP_005270210;XP_006718033 Hs.524479 1341805;1651451;1766919;2160934;5115850 D10S1687;RH46907;SHGC-152407;STS-AA025351;ksks370 EndoGlyx-1;FLJ13465 EMILIN-3;EMILIN-like protein EndoGlyx-1;EMILIN3;OTTHUMP00000020015;elastin microfibril interface located protein 3;elastin microfibril interfacer 3;endoGlyx-1 p125/p140 subunit;multimerin-2 APPROVED protein-coding ENSG00000173269 HGNC:19888 10601 608925 REVIEWED 730821 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades type IV collagen, the major structural component of basement membranes. The enzyme plays a role in endometrial menstrual breakdown, regulation of vascularization and the inflammatory response. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q13-q21 40027315 40054814 + 55513081 55540586 + 55479169 55506674 + 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4313 H3BR66;H3BS34;H3BV48;J3KRB7;P08253 ABBA01066524;ABBA01066525;AC007336;AJ298926;AK301536;AK310314;AK312711;AL046162;AL542407;AL832088;AMYH02032075;AU279927;AY738117;BC002576;BQ004983;CA446916;CH471092;DA993141;DB059054;DB154582;DQ385623;FB571114;FB668245;J03210;M33789;M55582;M55583;M55584;M55585;M55586;M55587;M55588;M55589;M55590;M55591;M55592;M55593;M58552;NG_008989;NM_001127891;NM_004530;U96098;X58968 AAA35701;AAA52027;AAA52028;AAH02576;AAU10089;ABD38929;ABM82878;ABM86064;BAG35588;BAG63035;CAR95108;CAS92766;EAW82824;EAW82825;EAW82826;EAW82827;EAW82828;NP_001121363;NP_004521;P08253 Hs.513617 1725681;1738861;1770384;1792988;1796332;1853160;2125508;2180991 D16S2904;G62045;MMP2_210;PMC179881P2;RH69324;STS-M55593;STS-W44530;WI-18839 CLG4;CLG4A;MMP-2;MMP-II;MONA;TBE-1 72 kDa gelatinase;72 kDa type IV collagenase;OTTHUMP00000164261;collagenase type IV-A;gelatinase A;matrix metalloproteinase 2 (gelatinase a, 72kda gelatinase, 72kda type iv collagenase);matrix metalloproteinase-2;matrix metalloproteinase-II;neutrophil gelatinase APPROVED protein-coding ENSG00000087245 HGNC:7166 00386 120360;259600 REVIEWED 1312286 MMS22L MMS22-like, DNA repair protein INVOLVED IN double-strand break repair via homologous recombination; replication fork processing; FOUND IN FACT complex; MCM complex; nuclear replication fork; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; calcitriol 6 6 6 q16.1 98233679 98375346 - 97590037 97731126 - 97142161 97283248 - 6480464 12477932;14574404;14702039;16169070;17353931;21055983;21055984;21055985;21113133;21139048;21252943;21906983;21963094;22053931;22895565;22939629;23785401;24816145 253714 E2QRD4;H0Y8J1;H0YAJ2;H9KVD7;H9KVD8;Q6ZRQ5 ABBA01014518;ABBA01014519;ABBA01014520;AK128060;AL023656;AL353679;AL590484;AMYH02014163;AMYH02014164;AMYH02014165;BC110860;BC142948;BX538214;CH471051;CR749603;CR749822;JA764221;JB741312;KF458233;NM_198468;XM_006715430;XM_006715431;XM_006715432 AAI60006;BAC87254;CAH18398;CAH18682;CCF82070;CDI30205;EAW48494;EAW48495;EAW48496;NP_940870;Q6ZRQ5;XP_006715493;XP_006715494;XP_006715495 Hs.444292 1676902;1697798;1712947;1719809;2159698;5014051;5015619;5021872;5022200;5022578;5023733;5037552 AU048745;D11S3114;D1S1423;D6S1289;D8S2278;D8S2279;L18426;RH102423;RH120563;RH123597;RH94367;sY3084 C6orf167;DKFZp686C20164;DKFZp781C2113;FLJ46180;KIAA1900;dJ39B17.2 OTTHUMP00000016886;OTTHUMP00000221009;hypothetical protein LOC253714;methyl methanesulfonate-sensitivity protein 22-like;protein MMS22-like APPROVED protein-coding ENSG00000146263 HGNC:21475 12865 615614 PROVISIONAL 1345848 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 11 q22.3 99868135 99875949 - 102706528 102714342 - 102835797 102843611 - 1580550;1580551;1580553;1580863;2290426;1302825;2325859;2325862;2325860;2325955;2325962;2325935;2325775;2325929;2325934;5129491;6480464;6907045;7207058;7207084;7207089;7240710;7207067;7207048;7207128;7241226;7241231;7241233;7241249;7241252;7241253;7241254;7241255;7207064;7207131;7207065;7207049;8547910;8547884;8662937;8552731;8693664;8693688;8693663;8693674;8693676;8694112;8694114;8693675;8693678;8694098;8694100;8693314;8693318;8693313;8693321;8661231;8694097;8694105;8693317;8693322;8662938;8694120;8694102;8694117;2316492;8693669;8693671;8693673;8549748;8694124;8694111;8662909;8554872;8693315 10359808;10428026;11095647;11159210;11796404;12051403;12364729;15034162;15099024;15161710;15194590;15238617;15319295;15467919;15498049;15750195;15823277;16100452;16128596;16140193;16158251;16164636;16509766;16977379;17027671;17058024;17062942;17083784;17094476;17125518;17893005;19221176;19321798;19332626;19551141;19961752;20019361;20043115;20056896;20153826;20216542;20472983;20515599;20606426;20616161;20703013;20935575;20948465;21038694;21649785;21679445;21871427;22056600;22114772;22314025;22363061;22498097;22590618;22845765;23035046;23042903;23100088;23204894;23224597;24011916;24194350;24244039;7639798;9211353;9327785 10419448;10422833;10543949;10639284;10669564;10877850;10922468;10947989;10967118;10986281;11116068;11297453;11327577;11375993;11380116;11438501;11485914;11546917;11751414;11824472;11827795;11836255;11841344;11841844;11977998;11982752;11988625;12009331;12034345;12034715;12054564;12054629;12071839;12103254;12124858;12149192;12204805;12205736;12229968;12230559;12385578;12432557;12473595;12477932;12477941;12485468;12572877;12634064;12651627;12727228;12736398;12750310;12761889;12784383;12810672;12821236;12832381;12834347;12837283;12866026;12867428;12876636;12880418;12952836;13129650;14712311;14715248;14718574;14984923;14998290;15009479;15033492;15070833;15084374;15094779;15102660;15142265;15172469;15194213;15203551;15234427;15274394;15288468;15290728;15308783;15312099;15319302;15337261;15342709;15355616;15383690;15389640;15474069;15489334;15528217;15529384;15546966;15610507;15640153;15665388;15667946;15701845;15716694;15748780;15757531;15763339;15788677;15863497;15879464;15894268;15944607;15955221;15972662;15993717;16080875;16082623;16088212;16102106;16202315;16238676;16278009;16302209;16311244;16323393;16356191;16405530;16424284;16430740;16516860;16532917;16615041;16629857;16677108;16739355;16802342;16822591;16871440;16899023;16904077;16905683;16919028;16935611;16937230;16972019;16972255;16972994;16984617;16998253;17000679;17000887;17003494;17024375;17027562;17033924;17065356;17077200;17137622;17145822;17151781;17178858;17181997;17182940;17198194;17207965;17316652;17316907;17319946;17320799;17373931;17381556;17383306;17434489;17436000;17471097;17473191;17502998;17530713;17537400;17543900;17559909;17564313;17589947;17607721;17617834;17617837;17664256;17669621;17672933;17703334;17710450;17719307;17763214;17763953;17765638;17875574;17901377;17911432;17919326;17922906;17929133;17942123;17958893;17975717;18006768;18007247;18028894;18029348;18035073;18063811;18076359;18077489;18091353;18172013;18212480;18220784;18225577;18234553;18237197;18262287;18275497;18303200;18308831;18342317;18363112;18426080;18445105;18469698;18485900;18496696;18513389;18541955;18566588;18571835;18573993;18606478;18609140;18619594;18634015;18636124;18674944;18674955;18760468;18801353;18810583;18818437;18818748;18830194;18974705;19005290;19008710;19019335;19019896;19042922;19056482;19064570;19065524;19100060;19131662;19132754;19155066;19159011;19165649;19180518;19212832;19238444;19245826;19263529;19268777;19275880;19279308;19293200;19318431;19336475;19337798;19376102;19381070;19432148;19435861;19438845;19479237;19504098;19507017;19507256;19508478;19522160;19527514;19559392;19576586;19578796;19585142;19614693;19628284;19643940;19664242;19678938;19690958;19729601;19731200;19762026;19770597;19778329;19786072;19789190;19834535;19836620;19843588;19892918;19906289;19913121;19923455;19948975;19949639;20009418;20031604;20038976;20082876;20092902;20113256;20142115;20204402;20211321;20215736;20302034;20346360;20359947;20360864;20374310;20385826;20435584;20436380;20437586;20452482;20453000;20455995;20467172;20472558;20483790;20484597;20485444;20538124;20541269;20574775;20584750;20587546;20609072;20609440;20616708;20622166;20628086;20628624;20630073;20640910;20654099;20655856;20672350;20673868;20707923;20708412;20731042;20740392;20802378;20822909;20827277;20832538;20853681;20873121;20936527;20942234;20948207;20959880;21037509;21044079;21048031;21103065;21108787;21111627;21113741;21134112;21150162;21183746;21187770;21190865;21206012;21212676;21219546;21227015;21228692;21232745;21244504;21247370;21277817;21321996;21330369;21336947;21345293;21357403;21431945;21443102;21451793;21454617;21454822;21481333;21601886;21667159;21707906;21753786;21770773;21782982;21802713;21853476;21867693;21872914;21900582;21917825;21925226;21935932;21948134;22027013;22057989;22089392;22092736;22114952;22121090;22122951;22134873;22175304;22184093;22204652;22207289;22210296;22222271;22241750;22265821;22278305;22323068;22441965;22455335;22457004;22515887;22531699;22587600;22628530;22671570;22730240;22776467;22786680;22819245;22832961;22836729;22862420;22868188;22888638;22890115;22922035;22927007;22965799;22975753;23043898;23108733;23123160;23128460;23328930;23343931;23357697;23377317;23409137;23412981;23483952;23509928;23522322;23548063;23564449;23575435;23608488;23637955;23696797;23705892;23707809;23744893;23752352;23769926;23794948;2383557;23872201;23922934;23926017;23934131;23936524;23941979;23967200;23978194;24043512;24101259;24146820;24168165;24338609;24349530;24374826;24416274;24464212;24489939;24507680;24577893;24583398;2605216;2785989;3030290;3360803;3477804;7523391;7656014;7694569;7998967;8125298;8216228;8486377;8535233;8662692;8740360;8921407;8957070;9083493;9148753;9288970;9548733;9558113;9733482;9737711;9760240;9792098;9827994;9873489;9888835 4314 E9PKX2;H7C139;P08254 ABBA01039931;AF405705;AI628953;AK223283;AK223291;AK313310;AMYH02025489;AP000789;BC069676;BC069716;BC074815;BC074869;BC105954;BC107490;BC107491;CH471065;DQ399598;J03209;J04732;M30460;NG_012100;NM_002422;U51914;U78045;X05232 AAA36321;AAB36942;AAH69676;AAH69716;AAH74815;AAH74869;AAI05955;AAI07491;AAI07492;AAK95247;AAN86644;AAO65616;ABD92797;ADQ31916;BAD97003;BAD97011;BAG36115;CAA28859;EAW67032;NP_002413;P08254 Hs.375129 1661212;1794922;2115489;2217620 D14S1188;MMP3_2663;PMC85083P2;STS-X05232 CHDS6;MGC126102;MGC126103;MGC126104;MMP-3;SL-1;STMY;STMY1;STR1 OTTHUMP00000045949;matrix metalloproteinase 3 (stromelysin 1, progelatinase);matrix metalloproteinase-3;proteoglycanase;stromelysin-1;transin-1 APPROVED protein-coding ENSG00000149968 HGNC:7173 01703 185250;614466 REVIEWED 733503 MNAT1 MNAT CDK-activating kinase assembly factor 1 The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 14 14 14 q23 41251714 41485662 + 61201459 61435398 + 60734741 60968680 + 1580863;6480464;6907045;8554872 10024882;10066804;10082552;10214908;10428966;10438593;10583946;10801852;10866664;10949034;11056162;11056214;11113176;11113200;11313499;11445587;12140753;12213824;12379213;12393749;12477932;12527756;12646563;14569024;15220921;15282296;15328539;15489334;15530371;16169070;16327805;16782892;16935935;16954377;17207965;17353931;17371848;17628022;17643375;17707548;18029348;18816836;1939271;19584075;20379614;20522537;21890473;21988832;22266860;22493164;22610502;22939629;23000965;23105109;23455922;23602568;23765726;24332808;2449431;7629134;7799941;8308015;8521393;8521818;8628270;8692841;8692842;8849451;8934526;8946909;9054383;9118947;9121429;9130708;9184228;9311822;9334327;9368058;9372954;9405375;9465303;9512541;9570510;9582279;9651670;9765201;9790902;9840937;9852112 4331 H0YJ92;H0YJF2;P51948 AA053721;ABBA01018290;ABBA01018291;ABBA01018292;AK308701;AL132777;AL160236;AMYH02029300;AMYH02029301;AMYH02029302;AMYH02029303;AMYH02029304;AY165512;BC000820;BU620200;CD701743;CH471061;CR450336;NM_001177963;NM_002431;U61835;X87843;X92669;XM_005267687;XM_005267688 AAB05248;AAH00820;AAN47195;ADQ32279;CAA61112;CAA63356;CAG29332;EAW80787;EAW80788;EAW80789;EAW80790;EAW80791;NP_001171434;NP_002422;P51948;XP_005267744;XP_005267745 Hs.509523 1336875;1336899;1658794;1685794;1744283;1788336;1788338;1788340;2125514;2137963;2155108;2155110;2158270;2179826;2219936;7186579 D14S1166;D14S592;D7S2425;G67480;G67481;G67482;GDB:451562;MNAT1__6327;RH45647;RH47826;RH65471;RH69606;RH70690;RH70941;RH80245 CAP35;MAT1;RNF66;TFB3 CDK-activating kinase assembly factor MAT1;CDK7/cyclin-H assembly factor;OTTHUMP00000179046;OTTHUMP00000245730;RING finger protein 66;RING finger protein MAT1;cyclin G1 interacting protein;cyclin-G1-interacting protein;menage a trois 1 (CAK assembly factor);menage a trois homolog 1, cyclin H assembly factor APPROVED protein-coding ENSG00000020426 HGNC:7181 04042 602659 REVIEWED 1343971 MNG1 multinodular goitre 1 ASSOCIATED WITH GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (inferred); Pleuropulmonary blastoma (inferred) 7240710 9345104 4333 1338727;1342331 D14S1030;D14S1060 HGNC:7184 138800;180295;601200 1314505 MNDA myeloid cell nuclear differentiation antigen The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008] 1 1 1 q22 131871536 131889615 + 158801168 158819270 + 158831378 158849480 + 1580863;6480464;8554872 12112016;12477932;1377701;14618084;15489334;15778972;1644857;16458891;16651415;17875758;18029348;19056867;19474799;20193116;20595294;23251661;23383108;23455924;24925224;7327575;7512843;7806273;8175894;9712147 4332 H0Y6P3;P41218;Q5VUU6 ABBA01016623;ABBA01016624;AK290392;AK313210;AL513205;AMYH02002007;BC020715;BC032319;CH471121;M81750;NM_002432;U30245 AAA69696;AAH20715;AAH32319;BAF83081;BAG36026;EAW52807;EAW52808;NP_002423;P41218 Hs.153837 1761387;2149921;2184790 D1S2388;RH17742;SHGC-145403 PYHIN3 OTTHUMP00000024384 APPROVED protein-coding ENSG00000163563 HGNC:7183 15932 159553 REVIEWED 1342804 MNGIE myoneurogastrointestinal encephalopathy syndrome ASSOCIATED WITH MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (inferred) 7240710 8164833 4334 HGNC:7185 603041 1348081 MN1 meningioma (disrupted in balanced translocation) 1 Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008] 22 22 22 q12.1 11944239 11997449 - 28144265 28197486 - 27748277 27801498 - 1600423;1600424;1624321;1580863;6480464;7240710;8699517;8554872 16398473;7731705;7731706 12569362;15302935;15461802;15890672;16081688;16105979;17242174;17494859;17525718;17698380;18029348;18632758;19240061;19391034;19451432;19561324;20072157;20467438;21600651;21828125;22219177;22409215;22488406;22905229;23394438;23515710;8786123 4330 H7C105;Q10571 ABBA01055216;AL031591;AMYH02038177;CH471095;EF540994;FO393416;NG_023258;NM_002430;X82209;Z70218 AAI52906;AAI56880;ABQ01232;CAA57693;CAA94179;CAK54441;CAK54740;EAW59741;EAW59742;NP_002421;Q10571 Hs.268515 1340926;1645029;1695306;1760307;1774260;1778122;1790245;2126955 D22S535;D22S631;D22S968E;SHGC-133061;SHGC-31555;SHGC-63495;SHGC-63496;SW2612 MGCR;MGCR1;MGCR1-PEN;dJ353E16.2 OTTHUMP00000198844;OTTHUMP00000198845;bK437G10B.1 (meningioma (disrupted in balanced translocation) 1);meningioma (translocation balanced);meningioma chromosome region 1;probable tumor suppressor protein MN1 APPROVED protein-coding ENSG00000169184 HGNC:7180 08862 156100;607174 REVIEWED 1604777 MND1 meiotic nuclear divisions 1 homolog (S. cerevisiae) The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008] 4 4 4 q31.3 151590328 151660770 + 154265801 154336247 + 153344649 153415095 + 6480464;8554872 11940665;12477932;16341674;16407260;17639080;18187620;20379614;21832049;21890473;22505724;23675907;24816145 84057 D6R9E3;D6RCT6;D6RIA0;Q9BWT6 AA542845;ABBA01070136;ABBA01070137;AC013477;AK312172;AMYH02010318;AMYH02010319;AMYH02010320;AMYH02010321;AY028916;BC032142;BF975093;BG613292;BG758047;BM820228;BM833450;BU533354;CH471056;NM_001253861;NM_032117;NR_045605;XM_005263274;XM_005263275;XM_006714340 AAH32142;AAK26168;ABM82912;ABM86102;BAG35106;EAX04964;EAX04965;NP_001240790;NP_115493;Q9BWT6;XP_005263331;XP_005263332;XP_006714403 Hs.294088 1769254 G33798 GAJ OTTHUMP00000220333;OTTHUMP00000220334;homolog of yeast MND1;meiotic nuclear division protein 1 homolog APPROVED protein-coding ENSG00000121211 HGNC:24839 17025 611422 VALIDATED 1605067 MNS1 meiosis-specific nuclear structural 1 This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008] 15 15 15 q21.3 33609956 33646382 - 56720929 56757335 - 56428731 56465137 - 6480464;8554872 12477932;14702039;15942958;16189514;23333304;23455924;24068947;7625268;8032679 55329 B3KQ70;Q8NEH6 ABBA01039006;AC068713;AC084782;AK002084;AK057542;AMYH02030508;AMYH02030509;BC012554;BC031046;BC034991;CH471082;NM_018365 AAH31046;AAH34991;ABW03602;ABW03743;BAA92077;BAG51932;EAW77501;EAW77502;NP_060835;Q8NEH6 Hs.444483 1706978 SHGC-80988 FLJ11222;FLJ26051;SPATA40 OTTHUMP00000162907;meiosis-specific nuclear structural protein 1;spermatogenesis associated 40 APPROVED protein-coding ENSG00000138587 HGNC:29636 10967 610766 REVIEWED 7248373 MNX1-AS1 MNX1 antisense RNA 1 (head to head) 7 7 7 q36.3 151230309 151236219 + 156803551 156809118 + 157010857 157016424 + 12477932;24189493 645249 ABBA01032368;AC006357;AI337260;AMYH02017154;BC022831;BC033117;BU506764;CH236954;CH471149;NR_038835 AAH22831;AAH33117;EAX04566 Hs.224879 ncrna ENSG00000243479 HGNC:48954 VALIDATED 1354311 MMS19 MMS19 nucleotide excision repair homolog (S. cerevisiae) ENCODES a protein that exhibits estrogen receptor binding; transcription coactivator activity; INVOLVED IN cellular response to DNA damage stimulus; chromosome segregation; DNA metabolic process; FOUND IN CIA complex; cytoplasm; membrane; INTERACTS WITH 5-fluorouracil; arsane; arsenic atom 10 10 10 q24-q25 92956137 92996432 - 99218081 99258521 - 97458324 97498794 - 6480464 11071939;11279242;11328871;12477932;14702039;15164054;15489334;16385451;16797255;17148452;17314511;17353931;19318433;19615732;19946888;20522537;20797633;21139048;21145461;21252943;21890473;21906983;21963094;22678361;22678362;22797925;22863883;22939629;22952844;23000965;23022380;23150669;23455922;23585563;23632208;23667531;23679317;23886164;23891004;23956138;24035498;24130505;24250222;24457600;24654937;24816145;8125298;8619474;9110174 64210 B0QZ77;F8WCH8;H0Y746;H0Y7V3;H7C0A9;H7C1W5;Q5T454;Q96T76 ABBA01021802;ABBA01021803;AF007151;AF319947;AF357881;AJ306408;AK025496;AK027710;AK056244;AK056581;AK225312;AK298995;AK304287;AK314374;AL355490;AL359388;AMYH02023609;AMYH02023610;AY974244;BC002692;BC006575;BC007298;BC009396;BC033101;BC080532;BC117129;BC143285;BU942293;CH471066;DC382324;DC382327;DC403135;DC410036;NM_001289403;NM_001289404;NM_001289405;NM_022362;XM_005270035;XM_005270041;XM_006717944;XM_006717945;XR_428713 AAC19154;AAH02692;AAH06575;AAH09396;AAH80532;AAI17130;AAK52668;AAK70402;AAX59033;BAB55315;BAB71223;BAG51657;BAG61084;BAG65145;CAC29239;EAW49921;EAW49922;EAW49923;EAW49924;EAW49925;EAW49926;EAW49927;EAW49928;NP_001276332;NP_001276333;NP_001276334;NP_071757;Q96T76;XP_005270092;XP_005270098;XP_006718007;XP_006718008 Hs.500721 1653508;2128971;2155370;2173212;2191611 A002G19;Cda19h12;D10S2361;MARC_27504-27505:1034367166:1;WI-20291 FLJ34167;FLJ95146;MET18;MGC99604;MMS19L;hMMS19 MET18 homolog;MMS19 (MET18 S. cerevisiae)-like;MMS19 nucleotide excision repair protein homolog;MMS19-like (MET18 homolog, S. cerevisiae);MMS19-like protein;OTTHUMP00000020210;OTTHUMP00000020211;OTTHUMP00000020213;homolog of yeast MMS19 protein-coding ENSG00000155229 HGNC:13824 17579 614777 VALIDATED 1344566 MNX1 motor neuron and pancreas homeobox 1 This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 7 7 7 q36 151224648 151230448 - 156797547 156803347 - 157004853 157010653 - 1580863;6480464;6907045;7240710;8554872;8699517 10329000;10631160;10749657;11528505;11940082;15772702;15790807;15839736;15998911;16498628;16646086;1677181;1712647;17612791;18449898;18940475;19212340;19446746;19853743;20146075;21069786;21145461;21763840;21960426;22820079;23048027;23370340;24095820;24411943;24425879;7550324;7914194;9843207 3110 C9JFT4;C9K088;P50219;S4R364;S4R3G1;S4R464 ABBA01032368;ABBA01032369;AC006357;AF107457;AMYH02017153;AMYH02017154;AY927459;AY927460;AY927461;AY927462;AY927464;CH236954;CH471149;NG_013212;NM_001165255;NM_005515;U07663;U07664;X56537;XM_006715957 AAB60647;AAI60126;CAA39882;EAX04564;NP_001158727;NP_005506;P50219;XP_006716020 Hs.37035 1668692;2162731 D7S2795;RH17984 HB9;HLXB9;HOXHB9;SCRA1 OTTHUMP00000211645;OTTHUMP00000211673;homeo box hb9;homeobox HB9;homeobox protein HB9;motor neuron and pancreas homeobox protein 1 APPROVED protein-coding ENSG00000130675 HGNC:4979 00874 142994;176450 REVIEWED 1318597 MNT MAX network transcriptional repressor The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 2303467 2320377 - 2287354 2304258 - 2384060 2400964 - 1580863;6480464;8554872 10918583;11230181;11314024;11748221;12477932;15146197;15258910;15489334;16341674;17419941;17577784;18155722;18239623;18271930;18457265;19086036;19322201;20467438;20946988;22964333;23860446;9184233;9199935;9598315 4335 Q99583;V9GY02 ABBA01054702;ABBA01054703;AC006435;AF318360;AK291596;AMYH02032772;BC033186;BC117563;BM469815;BM820333;BM876168;BM876428;BQ675978;CA950091;CH471108;CN428911;CN428913;HC084232;NM_020310;X96401;Y13440;Y13444 AAI17564;AAL55867;BAF84285;CAA65265;CAA73851;CBI12212;EAW90541;EAW90542;EAW90543;NP_064706;Q99583 Hs.626579;Hs.632239 1729564;1746073;1767518;5015619;5015961;5020948;5022578;5022651;5024413;5037552;5109281;5112201;7184787 D11S2921;D11S3114;D15S1477;D17S379;D1S1423;D1S1425;D8S2279;G35510;G54861;L17877;RH102316;WI-21883 MAD6;MXD6;ROX;bHLHd3 MAX binding protein;MNT, MAX dimerization protein;Max-interacting protein;OTTHUMP00000115723;class D basic helix-loop-helix protein 3;max-binding protein MNT;myc antagonist MNT APPROVED protein-coding ENSG00000070444 HGNC:7188 04331 603039 REVIEWED 6481498 MOB1AP2 MOB kinase activator 1A pseudogene 2 X X 37150457 37150809 + 37291205 37291557 + 100873854 AC243975;AMYH02039168;CR376822;NG_032521 MOBKL1BP2 pseudo HGNC:42639 INFERRED 1316298 MOAP1 modulator of apoptosis 1 The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq, Jul 2008] 14 14 14 q32 73702548 73705256 - 93648541 93651249 - 93182196 93184904 - 1580863;6480464;8554872 11060313;11076863;11256614;12477932;14702039;15489334;15489336;15949439;16189514;16199525;16344548;16381901;16713569;17535899;18474619;19100260;19797269;19850743;21078624;21139048;21890473;21906983;22434376;22529100;23236846;23472165 64112 Q96BY2 ABBA01030436;AF305550;AK024029;AK315522;AL110118;AMYH02029770;BC015044;BG475323;BG699993;BG704865;CH471061;NM_022151 AAG31786;AAH15044;ABM82103;ABM85285;BAB14788;BAG37903;CAL37854;EAW81516;NP_071434;Q96BY2 Hs.24719 2167776;2185495;5016851;5022651 D11S2921;RH11254;RH80031;WI-21766 MAP-1;MAP1;PNMA4 OTTHUMP00000240354;paraneoplastic Ma antigen family member 4;paraneoplastic antigen Ma4;paraneoplastic antigen like 4 APPROVED protein-coding ENSG00000165943 HGNC:16658 17580 609485 REVIEWED 6481515 MOB1AP1 MOB kinase activator 1A pseudogene 1 13 13 86543052 86543666 + 85968917 85969531 + 100873874 ABBA01012310;AL603869;AMYH02028405;NG_032520 MOBKL1BP1 pseudo HGNC:42638 INFERRED 1312955 MOB1B MOB kinase activator 1B The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 4 4 4 q13.3 69125042 69210916 + 71768043 71853891 + 70902326 70988174 + 737633;1580863;6480464 12477932 14702039;15067004;15197186;15489334;16674920;18328708;18781797;19739119;19919647;20360068;20970119;21139048;21832049;21890473;21963094;22454515;22505724;22810585;23000965;24255178;8889548 92597 B3KSH6;D6RCK3;Q7L9L4 AA417950;ABBA01022949;ABBA01022950;ABBA01022951;ABBA01022952;ABBA01022953;ABBA01022954;ABBA01022955;AC021989;AC093851;AC108014;AJ577473;AK093545;AK299481;AK313513;AL162039;AMYH02009430;AMYH02009431;AMYH02009432;AMYH02009433;AMYH02009434;BC038112;BC044913;BF129919;BG033976;BG433921;BQ229138;BX089615;CA311370;CH471057;NM_001244766;NM_001244767;NM_173468;XM_005265709;XM_006714415 AAH38112;AAY40943;AAY41047;BAG36293;BAG52738;BAG61445;CAE12091;EAX05635;EAX05636;NP_001231695;NP_001231696;NP_775739;Q7L9L4;XP_005265766;XP_006714478 Hs.691454;Hs.744715 1644645;1734278;2171139;2176446 D4S2468E;RH65892;SHGC-59227;SHGC-67949 MATS2;MGC33910;MOB4A;MOBKL1A;mob1A MOB1 Mps One Binder homolog B;MOB1, Mps One Binder kinase activator-like 1A;OTTHUMP00000219144;OTTHUMP00000219145;mob1 homolog 1A;mps one binder kinase activator-like 1A APPROVED protein-coding ENSG00000173542 HGNC:29801 17582 609282 REVIEWED 1602095 MOB2 MOB kinase activator 2 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN actin cytoskeleton organization (inferred); positive regulation of neuron projection development (inferred); positive regulation of protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH acetylsalicylic acid; zinc atom; zinc(0) 11 11 11 p15.5 1522493 1539736 - 1490685 1507948 - 1469455 1486718 - 6480464;8554872 11181995;11223154;12477932;14702039;15067004;15489334;16061636;18029348;20360068;20379614;20624913;20889853;23084401;23326134;24255178;24816145 81532 Q70IA6 AB028173;AB066564;ABBA01012144;ABBA01012145;AC091196;AJ580639;AK057350;AK296658;AK300235;AMYH02024170;AW874617;BC035317;BC047291;BC058934;BC067785;BP388313;BX537373;CH471158;DC413532;HY032250;NM_001172223;NM_053005 AAH47291;AAH67785;BAB18568;BAB62266;BAB71443;BAG59255;BAG62003;CAD97615;CAE45271;NP_001165694;NP_443731;Q70IA6 Hs.370360 1655557;1782356;2158021 G09998;RH69788;SHGC-148820 HCCA2 MOB2 Mps One Binder homolog;Mps one binder kinase activator-like 2;OTTHUMP00000230139;mob2 homolog APPROVED protein-coding ENSG00000182208 HGNC:24904 17581 611969 VALIDATED 1317238 MOB3C MOB kinase activator 3C The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 1 1 1 p33 45360739 45369899 - 47073387 47082563 - 46607715 46616891 - 6480464 12477932;14702039;15489334;19739119;21832049;8889548 148932 Q70IA8;X6R3L3;X6R845 ABBA01050836;AJ580637;AK090453;AK091808;AL136373;AMYH02000961;BC026078;BC121169;BG717827;BI601393;CF125162;CH471059;NG_027514;NM_145279;NM_201403;XM_006710380 AAI21170;BAC03434;BAC03752;CAE45269;EAX06898;EAX06899;NP_660322;NP_958805;Q70IA8;XP_006710443 Hs.632401 1679954 RH81054 MGC26743;MOB1E;MOBKL2C MOB1, Mps One Binder kinase activator-like 2C;OTTHUMP00000009682;OTTHUMP00000009683;mob1 homolog 2C;mps one binder kinase activator-like 2C APPROVED protein-coding ENSG00000142961 HGNC:29800 17584 REVIEWED 1346999 MOB3B MOB kinase activator 3B The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008] 9 9 9 p21.2 27253352 27457971 - 27325207 27530223 - 27325209 27529852 - 737633;6480464 12477932 14702039;15146197;15489334;16189514;16344560;16712791;17353931;18519826;18615156;19060904;19240061;19322201;19739119;20237496;20379614;20423481;20936779;21900206;23376709;8889548 79817 Q86TA1;Q8TEC6 AA149400;ABBA01065127;ABBA01065128;ABBA01065129;ABBA01065130;AI692878;AJ580636;AK022201;AK023266;AK074231;AK097199;AK172755;AL163192;AL451123;AL832572;AMYH02019351;AMYH02019352;AMYH02019353;AMYH02019354;AMYH02019355;AU126938;BC033027;BF511468;BI860336;CB128567;CH471071;CN260547;CR457307;DB266074;NM_024761 AAH33027;ABM82128;ABM85311;BAB14497;BAB85024;BAD18741;CAD89934;CAE45268;CAG33588;EAW58562;NP_079037;Q86TA1 Hs.369022;Hs.690014;Hs.733701 1647511;1650626;1658285;1704078;1708486;1709320;1720983;1753755;1764647;1775740;2122868;2124791;5494163 A004T44;A006Z29;D9S1086;G59472;SHGC-14117;SHGC-148236;SHGC-79483;SHGC-81650;SHGC-83348;SHGC-89217;STS-R14866;WI-15386;fb73a01.x1 C9orf35;FLJ13204;FLJ23916;MGC32960;MOB1D;MOBKL2B MOB1, Mps One Binder kinase activator-like 2B;OTTHUMP00000021173;mob1 homolog 2b;monopolar spindle 1 binding, MOB1, domain containing;mps one binder kinase activator-like 2B APPROVED protein-coding ENSG00000120162 HGNC:23825 14728 REVIEWED 1601878 MOB4 MOB family member 4, phocein This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HSPE1.[provided by RefSeq, Feb 2011] 2 2 2 q33.1 192136193 192173386 + 198380295 198418423 + 197515571 197553699 + 6480464 10810093;11217851;11230166;11251078;11319234;11872741;12477932;14702039;15489334;16169070;16189514;17353931;17853115;18362890;18782753;19156129;19615732;19739119;19797269;20029029;20360068;20936779;21139048;22863883;22990118;23443559;23455922;24255178;24872389 25843 B4DM50;F8W8B0;F8WAQ8;Q9Y3A3 AB015441;ABBA01062482;AC020550;AF093825;AF151853;AF250319;AJ580638;AK027043;AK289377;AK292938;AK297294;AK297514;AK307497;AL080070;AMYH02005522;BC005237;CH471063;CR457371;CR736874;DC298610;DC350915;DC375649;NM_001100819;NM_001204094;NM_015387;NM_199482 AAD34090;AAG44567;AAH05237;AAP97221;AAX93147;BAB15635;BAB19057;BAF82066;BAF85627;BAG59762;BAG59922;CAB45697;CAE45270;CAG33652;EAW70164;EAW70165;EAW70166;EAW70167;EAW70168;NP_001094289;NP_001191023;NP_056202;NP_955776;Q9Y3A3 Hs.633165 1682682;1685976;1734894;1853887;2125083;5015961;5022322;5024756;5037552 D11S2560;D15S1477;D2S1666E;D8S2279;RH27240;RH80017;RH80030;STS-AA015752;WI-14124 2C4D;CGI-95;MGC12264;MOB1;MOB3;MOBKL3;PHOCN;PREI3 MOB-like protein phocein;MOB1, Mps One Binder kinase activator-like 3;Mps One Binder kinase activator-like 3;OTTHUMP00000163628;OTTHUMP00000163629;OTTHUMP00000205811;OTTHUMP00000205812;class II mMOB1;mob1 homolog 3;phocein;phocein, Mob-like protein;preimplantation protein 3 APPROVED protein-coding ENSG00000115540 HGNC:17261 10165 609361 REVIEWED 1317819 MOB3A MOB kinase activator 3A ENCODES a protein that exhibits metal ion binding (inferred); FOUND IN intracellular; INTERACTS WITH benzo[a]pyrene diol epoxide I; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.3 2005787 2031022 - 2071031 2096501 - 2071036 2096270 - 737633;1580863;6480464 12477932 11076863;11230166;11256614;14702039;15057824;15489334;15489336;16381901;19322201;19739119;19953087;21832049;24250222 126308 K7EKK6;K7ELH3;K7ELS3;K7EPX7;K7ESA9;K7ESI3;Q96BX8 AB061793;ABBA01002707;ABBA01002708;ABBA01002709;ABBA01002710;AC005328;AJ580635;AK094732;AK095471;AL832474;AMYH02035184;BC009547;BC015049;CR627409;NM_130807 AAC27672;AAH15049;BAB84554;BAG53063;CAE45267;CAH10498;CAL37922;NP_570719;Q96BX8 Hs.744938 1683653;1684854;2157605;5014051;5022200;5037552 D8S2278;D8S2279;L18426;RH91581;RH91888;STS-W67745 MOB1C;MOBKL2A MOB LAK;MOB-LAK;MOB1, Mps One Binder kinase activator-like 2A;mob1 homolog 2A;moblak;mps one binder kinase activator-like 2A APPROVED protein-coding ENSG00000172081 HGNC:29802 17583 VALIDATED 1318297 MOCOS molybdenum cofactor sulfurase MOCOS sulfurates the molybdenum cofactor of xanthine dehydrogenase (XDH; MIM 607633) and aldehyde oxidase (AOX1; MIM 602841), which is required for their enzymatic activities (Ichida et al., 2001 [PubMed 11302742]).[supplied by OMIM, Feb 2010] 18 18 18 q12 30575346 30656592 + 33767480 33848685 + 36187517 36268722 + 6480464;8554872 11302742;12477932;14624414;15174051;15302935;15489334;16964243;17368066;19500084;21906983;21963094;22495427;8125298 55034 Q96EN8 ABBA01022431;ABBA01022432;AC023043;AK000740;AK222886;AL834481;AMYH02034564;AMYH02034565;AMYH02034566;BC012079;BQ931455;CH471088;CS300660;GN364804;NM_017947 AAH12079;ABM86767;ABW03823;BAA91353;BAD96606;CAD39140;CAK32324;CAY77139;EAX01378;NP_060417;Q96EN8 Hs.405028 2135471 D18S958 FLJ20733;HMCS;MCS;MOS MCS {ECO:0000255|HAMAP-Rule:MF_03050};MOCOS {ECO:0000255|HAMAP-Rule:MF_03050};MOS {ECO:0000255|HAMAP-Rule:MF_03050};OTTHUMP00000163413;moCo sulfurase;moCo sulfurase {ECO:0000255|HAMAP-Rule:MF_03050};molybdenum cofactor sulfurase {ECO:0000255|HAMAP-Rule:MF_03050};molybdenum cofactor sulfurtransferase;molybdenum cofactor sulfurtransferase {ECO:0000255|HAMAP-Rule:MF_03050} APPROVED protein-coding HGNC:18234 17585 613274 VALIDATED 1346599 MOCS1P1 molybdenum cofactor synthesis 1 pseudogene 1 16 16 16 q12.1 33040872 33043513 + 48530693 48533334 + 48496782 48499423 + 27187 ABBA01000911;AC026470;AJ272089;AMYH02031987;NG_001271 MOCS1P2 pseudo HGNC:7191 INFERRED 1348601 MOCS1P2 molybdenum cofactor synthesis 1 pseudogene 2 27186 HGNC:7192 1315956 MOB1A MOB kinase activator 1A ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN hippo signaling; FOUND IN extracellular vesicular exosome; INTERACTS WITH methyl methanesulfonate; paracetamol; piroxicam 2 2 2 p13.1 74214438 74237202 - 74381394 74406006 - 74156084 74178868 - 6480464 11319234;12477932;12665801;12962634;14702039;15197186;15489334;15766530;15815621;16061636;16189514;16674920;17207965;17347649;17353931;17611689;17620599;17643375;18328708;18362890;18985028;19739119;19955215;20360068;20624913;21832049;21890473;21963094;22454515;22505724;22810585;23000965;23022380;23652010;24163370;24255178;24816145 55233 Q9H8S9 AB016839;ABBA01075598;AC073263;AJ577474;AK001650;AK021657;AK023321;AMYH02004088;AMYH02004089;BC003398;CH471053;CQ826793;NM_018221 AAH03398;AAX93060;ADQ33200;BAA91810;BAB13868;BAB14525;BAB19058;CAE12093;CAG44585;EAW99695;EAW99696;NP_060691;Q9H8S9 Hs.602092 1663608;1679527;1682591;1695196;2156313 G48239;RH66469;RH69565;RH80124;RH93806 C2orf6;FLJ10788;FLJ11595;MATS1;MOB1;MOBK1B;MOBKL1B;Mob4B MOB1 Mps One Binder homolog A;MOB1, Mps One Binder kinase activator-like 1B;OTTHUMP00000202550;mob1 alpha;mob1 homolog 1B;mps one binder kinase activator-like 1B APPROVED protein-coding HGNC:16015 14727 609281 PROVISIONAL 1350729 MOCS3P1 molybdenum cofactor synthesis 3 pseudogene 1 14 14 14 q23.1 42381393 42383226 + 62330934 62332767 + 61864216 61866049 + 326305 ABBA01018304;AL137918;AMYH02029319;NG_002557 2219938 MOCS3__6331 MOCS3P APPROVED pseudo HGNC:20021 INFERRED 1318258 MOCS1 molybdenum cofactor synthesis 1 Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants, whose full-length natures have yet to be determined, are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Jan 2010] 6 6 6 p21.3 41425262 41455518 - 39872034 39902290 - 39904258 39934551 - 1625104;1558665;1624402;1600439;6480464;6907045;7240710;8699517;8554872 12754701;16784786;9731530;9921896 10053004;10327149;10917590;11891227;12208140;12477932;14574404;14702039;15146197;15180982;15489334;16021469;16429380;17065069;19544009;19793632;21988832;8889548;9634514;9812897 4337 F8WCK1;Q9NZB8 ABBA01050772;ABBA01050773;AF034374;AF214015;AF214022;AF214023;AI122656;AJ224328;AJ293577;AJ404969;AK056740;AK091306;AK300300;AL136089;AMYH02013594;AMYH02013595;AV724791;AY423726;BC036839;CA944911;CH471081;CN267723;CX787499;DC377054;DC410181;FO393411;NG_009297;NM_001075098;NM_005943;NR_033233 AAB87523;AAB87524;AAF67843;AAF67844;AAF67857;AAF67858;AAH36839;AAI40422;AAS00489;BAG51799;BAG62053;CAA11897;CAA11898;CAC44526;CAC44527;CAI20007;CAI20008;CAI20009;CAI20011;CAI20012;CAI20013;CAI20014;CAI20015;EAX03998;EAX03999;EAX04000;EAX04001;EAX04002;NP_001068566;NP_005934;Q9NZB8 Hs.357128;Hs.718492 1847151;2125408;2217246 DAAM2_3802;RH15815;RH78586 KIAA0381;MIG11;MOCS1A;MOCS1B MOCOD;MOCODA;MOCS1A enzyme;OTTHUMP00000016353;OTTHUMP00000016354;OTTHUMP00000016356;OTTHUMP00000016357;OTTHUMP00000016358;OTTHUMP00000016360;OTTHUMP00000216744;cell migration-inducing gene 11 protein;migration-inducing gene 11 protein;molybdenum cofactor biosynthesis protein 1;molybdenum cofactor biosynthesis protein A;molybdenum cofactor synthesis-step 1 protein A-B APPROVED protein-coding ENSG00000124615 HGNC:7190 04749 252150;603707 REVIEWED 4891559 MOCS3P2 molybdenum cofactor synthesis 3 pseudogene 2 13 13 13 24809820 24810328 - 43753636 43754144 - 43179500 43180008 - 100420520 ABBA01021247;AL138709;AMYH02027942;NG_024852 pseudo HGNC:39444 INFERRED 736574 MOBP myelin-associated oligodendrocyte basic protein ENCODES a protein that exhibits Rab GTPase binding (inferred); structural constituent of myelin sheath (inferred); INVOLVED IN intracellular protein transport (inferred); nervous system development (inferred); FOUND IN cytoplasm (inferred); mitochondrion (inferred); INTERACTS WITH benzo[a]pyrene; silicon dioxide; 17beta-estradiol (ortholog) 3 3 3 p22.1 39450698 39509485 + 39509064 39570988 + 39467573 39529497 + 633191;6480464 7989345 12477932;14702039;15009677;15489334;16344560;17207965;17964117;18029348;18839057;19734545;20877624;21685912;21832049;23116876;23535033;24994843;9749786 4336 C9JAR7;C9JLT8;Q13875 ABBA01024801;AC092058;AK094745;AK095118;AK095180;AK124766;AK127034;AK290187;AMYH02006589;BC022471;BC035141;BC075796;BC119694;BC119695;CH471055;D28113;D28114;DA159663;DA287397;DA343382;DA418624;EB387411;NM_001278322;NM_001278323;NM_182935;NR_003090;NR_103504;NR_103505;NR_103506 AAH22471;AAH75796;AAI19695;AAI19696;ADQ32378;BAA05659;BAA05660;BAF82876;EAW64588;EAW64589;EAW64590;EAW64591;EAW64592;EAW64593;EAW64594;NP_001265251;NP_001265252;NP_891980;Q13875 Hs.121333;Hs.594670 1667573;1682367;1694448;1739821;1846720;1856160;2112556;2112580;2112620;2151398;2165658;2184503;5024565 D3S3390;D3S3484E;D3S4336;D3S4349;D3S4372;G09421;G16598;G18010;G42937;RH80753;RH92643;SHGC-76849;WI-13470 MGC87379 OTTHUMP00000174757;OTTHUMP00000209608;OTTHUMP00000209638;OTTHUMP00000209639;myelin-associated oligodendrocytic basic protein protein-coding ENSG00000168314 HGNC:7189 02973 600948 VALIDATED 1323209 MOGAT1 monoacylglycerol O-acyltransferase 1 Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM, Mar 2008] 2 2 2 q36.1 217304367 217342566 + 223536457 223575005 + 222671738 222710286 + 6480464 11481335;12077311;14970677;15815621;18976975 116255 Q96PD6 ABBA01023812;AC104772;AF384163;AMYH02005862;BN000154;CH471063;NM_058165;XM_005246272 AAI40228;AAI46519;AAK84178;AAX81987;CAD89265;EAW70805;EAW70806;NP_477513;Q96PD6;XP_005246329 Hs.344090 DGAT2L;DGAT2L1;MGAT1;hDC2 2-acylglycerol O-acyltransferase 1;OTTHUMP00000203814;acyl-CoA:monoacylglycerol acyltransferase 1;diacylglycerol O-acyltransferase 2 like 1;diacylglycerol O-acyltransferase candidate 2;diacylglycerol acyltransferase 2-like protein 1 APPROVED protein-coding ENSG00000124003 HGNC:18210 14729 610268 VALIDATED 1316006 MOCS3 molybdenum cofactor synthesis 3 Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012] 20 20 20 q13.13 46279623 46282080 + 49575351 49578400 + 50958814 50961863 + 1625104;1580863;6480464;8554872 16784786 11746050;11780052;12477932;12754701;15073332;15231747;15489334;15910006;17459099;18491921;18650437;19017811;21139048;21890473;21906983;22453920;22797925;8889548 27304 O95396 ABBA01052792;AF102544;AI942426;AL034553;AMYH02037250;BC015939;BG105185;BQ188547;BY995583;CH471077;DB452633;HY215239;NG_008923;NM_014484 AAC72412;AAH15939;ABM83281;ABM86472;EAW75606;NP_055299;O95396 Hs.159410;Hs.736268 1700674;2219938;5014023;5015861;5015961;7185938 D10S16;D13S1553;D15S1477;MOCS3__6331;RH103960 MGC9252;UBA4;dJ914P20.3 MPT synthase sulfurylase;OTTHUMP00000031284;UBA4, ubiquitin-activating enzyme E1 homolog;adenylyltransferase and sulfurtransferase MOCS3;molybdenum cofactor synthesis protein 3;molybdopterin synthase sulfurylase;ubiquitin-like modifier activating enzyme 4 APPROVED protein-coding HGNC:15765 10092 609277 REVIEWED 1350436 MOGAT3 monoacylglycerol O-acyltransferase 3 Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA (Cheng et al., 2003 [PubMed 12618427]).[supplied by OMIM, Mar 2008] 7 7 7 q22.1 95848167 95853457 - 100839010 100844302 - 101195729 101201021 - 6480464;8554872 12477932;12618427;12853948;12975309;14970677;15489334;21832049;9847074 346606 Q86VF5 ABBA01011343;ABBA01011344;AC004876;AMYH02016403;AY229854;AY358200;BC100953;BC100954;BC100955;BE042458;CH471197;HB886765;HB911615;HC944174;HC969024;NM_001287147;NM_178176;XM_005250309 AAD45832;AAI00954;AAI00955;AAI00956;AAO63579;AAQ88567;CBF67541;CBF90900;CBU92414;CBV04420;EAW50203;EAW50204;NP_001274076;NP_835470;Q86VF5;XP_005250366 Hs.512217 5016781 SHGC-67307 DC7;DGAT2L7;MGAT3;MGC119203;MGC119204;hDC7 2-acylglycerol O-acyltransferase 3;OTTHUMP00000024946;OTTHUMP00000211465;OTTHUMP00000211466;acyl coenzyme A:monoacylglycerol acyltransferase 3;acyl-CoA:monoacylglycerol acyltransferase 3;diacylglycerol O-acyltransferase candidate 7;diacylglycerol acyltransferase 2-like protein 7 APPROVED protein-coding ENSG00000106384 HGNC:23249 11368 610184 VALIDATED 732423 MOGS mannosyl-oligosaccharide glucosidase This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 2 2 2 p13.1 74519373 74523726 - 74688184 74692537 - 74461057 74465410 - 704404;6480464;6907045;7240710;8554872;8699517 10788335;11530211;11942856;12145188;12477932;12490281;12560567;12626409;12719582;15489334;16169070;16344560;16547752;1678778;1704656;17314511;1736542;18303019;19056867;19946888;20301507;2076345;21139048;2136376;2187500;21906983;22190034;2283726;22939629;23125841;23246001;23443559;2355006;24654937;24716661;2541446;2542563;2649653;2825177;2829950;2959866;3099781;3264072;7635146;8093218;8218172;8416962;8673525;8786151;8794361;8794362;9109416 7841 B4E3B8;B8ZZE2;C9J8D4;C9JDQ1;Q13724;Q58F09 AA292430;ABBA01075601;AC005041;AJ422288;AK292553;AK292719;AK304655;AK307991;AK313355;AMYH02004091;BC002804;BC028337;BC117250;BC117252;BC143934;CH471053;DA520534;DC388420;DC402060;NG_008922;NM_001146158;NM_006302;X87237 AAH28337;AAI17251;AAI17253;BAF85242;BAF85408;BAG65430;CAA60683;CAD19636;EAW99652;EAW99653;NP_001139630;NP_006293;Q13724 Hs.516119 1651222;1770666;2108113 GCS1_8766;RH78317;SHGC-31624 CDG2B;CWH41;DER7;GCS1 OTTHUMP00000202621;OTTHUMP00000202622;OTTHUMP00000202623;OTTHUMP00000202624;glucosidase I;processing A-glucosidase I APPROVED protein-coding ENSG00000115275 HGNC:24862 03214 601336;606056 REVIEWED 1347583 MOCS2 molybdenum cofactor synthesis 2 Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008] 5 5 5 q11 49347470 49359176 - 52391509 52405602 - 53095679 53109772 - 1625104;1556492;1558665;1580863;6480464;6907045;7240710;8699517;8554872 10053004;12754701;16784786 10053003;10917590;11746050;12477932;12732628;1427786;14702039;15073332;15489334;16021469;16169070;16344560;16737835;16964243;17158010;18029348;18491921;18650437;21139048;21890473;23000965;24250222;9731530;9812897;9889283 4338 E9PKT9;O96007;O96033 AA252410;ABBA01015718;AC008966;AF091871;AF117815;AF155659;AK095832;AK126211;AK312887;AMYH02011291;BC029287;BC039720;BC046097;BC095417;CB050849;CD514049;CH471123;CR457172;DA967651;HB937954;HC995363;NG_008435;NM_004531;NM_176806 AAD13296;AAD13297;AAD14598;AAD14599;AAF67478;AAH46097;BAG35735;CAG33453;CBG03804;CBV17326;EAW54874;EAW54875;EAW54876;EAW54877;NP_004522;NP_789776;O96007;O96033 Hs.163645;Hs.594335 1661345;1714203;1725691;2123443 D5S2664;G62050;RH119712;RH15640 MCBPE;MOCO1;MOCO1-A;MOCO1-B;MOCS2A;MOCS2B;MPTS MOCODB;MOCS2 {ECO:0000255|HAMAP-Rule:MF_03052};MOCS2B {ECO:0000255|HAMAP-Rule:MF_03052};MPT synthase large subunit;OTTHUMP00000122459;OTTHUMP00000221521;OTTHUMP00000221522;OTTHUMP00000221953;OTTHUMP00000221954;OTTHUMP00000231610;molybdenum cofactor biosynthesis protein E;molybdenum cofactor synthesis protein 2 large subunit;molybdenum cofactor synthesis protein 2 large subunit {ECO:0000255|HAMAP-Rule:MF_03052};molybdenum cofactor synthesis protein 2 small subunit;molybdenum cofactor synthesis protein 2A;molybdenum cofactor synthesis protein 2B;molybdenum cofactor synthesis protein 2B {ECO:0000255|HAMAP-Rule:MF_03052};molybdopterin synthase catalytic subunit;molybdopterin synthase small and large subunit;molybdopterin synthase sulfur carrier subunit;molybdopterin-synthase large subunit;molybdopterin-synthase small subunit;sulfur carrier protein MOCS2A APPROVED protein-coding ENSG00000164172 HGNC:7193 04750 252150;252160;603708 REVIEWED 1601843 MON1A MON1 secretory trafficking family member A INVOLVED IN cellular iron ion homeostasis (inferred); protein secretion (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 3 3 3 p21.31 49912397 49933686 - 49946302 49967445 - 49908869 49930012 - 6480464 12477932;14702039;16713569;20434987;21900206;21906983;22665492 84315 Q86VX9;X6R3V9 ABBA01024566;ABBA01024567;ABBA01024568;AC105935;AK074404;AK092018;AK307140;AK315630;AMYH02006761;BC006299;BC009459;BC047022;BF514313;BQ946394;CH471055;NM_001142501;NM_032355;XM_006713345 AAH06299;AAH09459;AAH47022;BAC03790;BAG37998;EAW65037;EAW65038;NP_001135973;NP_115731;Q86VX9;XP_006713408 Hs.655014 1658100;1731367;1857359;2140341;2140559 D3S1359;D3S2449;D3S3822;L17931;WI-19760 FLJ97088;MGC13272;SAND1 MON1 homolog A;OTTHUMP00000210493;OTTHUMP00000210494;OTTHUMP00000210920;vacuolar fusion protein MON1 homolog A APPROVED protein-coding ENSG00000164077 HGNC:28207 17586 611464 VALIDATED 1316028 MOGAT2 monoacylglycerol O-acyltransferase 2 Dietary fat absorption from the small intestine is facilitated by acyl-CoA:monoacylglycerol transferase (MOGAT; EC 2.3.1.22) and acyl-CoA:diacylglycerol acyltransferase (DGAT; see MIM 604900) activities. MOGAT catalyzes the joining of monoacylglycerol and fatty acyl-CoAs to form diacylglycerol (Yen and Farese, 2003 [PubMed 12621063]).[supplied by OMIM, Mar 2008] 11 11 11 q13.5 72736737 72750141 + 75428934 75442331 + 75717889 75731286 + 6480464 12477932;12576479;12621063;12824082;14702039;14966132;14970677;15489334;23536640;24097068 80168 Q3SYC2 ABBA01017462;AK000245;AK026297;AK128620;AK291998;AMYH02025120;AP001922;AY157608;BC103876;BC103877;BC103878;CH471076;HB886763;HB911613;HC944172;HC969022;NM_025098 AAI03877;AAI03878;AAI03879;AAO23672;BAB15436;BAC87534;BAF84687;CBF67540;CBF90899;CBU92413;CBV04419;EAW74982;EAW74983;NP_079374;Q3SYC2 Hs.288568 1655987;2165101;2165103 FB16B8;RH47251;SHGC-32865 DGAT2L5;FLJ22644;MGAT2;MGC119183;MGC119184;MGC119185;hDC5;hMGAT2 2-acylglycerol O-acyltransferase 2;OTTHUMP00000229407;OTTHUMP00000229408;OTTHUMP00000229409;acyl CoA:monoacylglycerol acyltransferase 2;acyl-CoA:monoacylglycerol acyltransferase 2;diacylglycerol O-acyltransferase candidate 5;diacylglycerol acyltransferase 2-like protein 5 APPROVED protein-coding HGNC:23248 11367 610270 PROVISIONAL 1605088 MON1B MON1 secretory trafficking family member B INTERACTS WITH diazinon; elemental selenium; selenium atom 16 16 16 q23.1 61522373 61531080 + 77224821 77233543 + 77190919 77199646 + 6480464 10048485;12477932;12828340;14702039;17109635;19844255;19851296;20198315;20434987;20562859;22939629;23000965;8889548 22879 B4DKA0;E7EW32;H3BPL8;H3BQ73;H3BR21;H3BU99;H3BUX9;Q6ZR87;Q7L1V2 AB020679;ABBA01017039;AC009139;AF442486;AK023374;AK023896;AK128411;AK293392;AK296467;AMYH02032426;AW503582;BC024277;BU682558;CF125013;CH471114;DC348034;NM_001286639;NM_001286640;NM_014940 AAH24277;AAL35292;BAA74895;BAB14549;BAC87427;BAG51238;BAG56901;BAG59112;EAW95607;EAW95608;NP_001273568;NP_001273569;NP_055755;Q7L1V2 Hs.513743 1660181;1662371;1676718;5015961;5020740;5024413;5037552 D15S1477;D8S2279;L17809;L17877;RH15625;RH79596;SHGC-32952 HSRG1;SAND2;SRG1 HSV-1 stimulation-related gene 1 protein;HSV-I stimulating-related protein;MON1 homolog B;OTTHUMP00000174959;vacuolar fusion protein MON1 homolog B APPROVED protein-coding HGNC:25020 12342 608954 VALIDATED 5144663 MORC1-AS1 MORC1 antisense RNA 1 3 3 107218062 107226925 + 108820303 108829187 + 100506506 XR_108460;XR_112524 1658597;1715999 AFM211XF4;RH122742 APPROVED ncrna HGNC:40377 1319529 MOK MOK protein kinase This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012] 14 14 14 q32 82749683 82826044 - 102690834 102771537 - 102224450 102305200 - 1580863;6480464;7243170 15900605 10421840;11329013;12190937;12206267;12477932;12777992;14702039;15327990;15489334;16344560;17549666;18029348;18685487;19060005;21264954;21377387;21717246;21900206;23602568;24250222;8781117 5891 E5RFX9;E5RHT7;E5RHY4;E5RI85;H0YBV8;H0YKX6;H0YLZ5;H0YM36;H0YMY9;H3BNF8;Q49A77;Q9UQ07 AB022694;ABBA01048485;ABBA01048486;ABBA01048487;ABBA01048488;ABBA01048489;AK094003;AK094747;AK131542;AK302349;AK312778;AL352978;AL359402;AMYH02029893;AMYH02029894;AMYH02029895;BC026069;BC043179;BC053536;BG184866;CH471061;DB037795;DB517173;HH961882;HY184670;NM_001272011;NM_014226;NR_073540;NR_073541;NR_073542;NR_073543;U46191;U46192;U46193;U46194;XM_006720225;XM_006720226;XM_006720227;XM_006720228;XR_429320;XR_429321;XR_429322;XR_429323;XR_429324;XR_429325 AAB38077;AAB38079;AAB38080;AAB38081;AAB38082;AAB38083;AAB38084;AAB38085;AAB38087;AAH26069;AAH43179;AAH53536;BAA81688;BAG35641;BAH13682;CBX51414;EAW81772;EAW81773;EAW81774;EAW81775;EAW81776;EAW81777;EAW81778;EAW81779;EAW81780;NP_001258940;NP_055041;Q9UQ07;XP_006720288;XP_006720289;XP_006720290;XP_006720291 Hs.104119 1659707;1848740;2110951;2151339;5022578 D14S108E;D1S1423;G36349;RH47006;SGC32568 RAGE;RAGE-1;RAGE1;STK30 MAPK/MAK/MRK overlapping kinase;OTTHUMP00000227853;OTTHUMP00000227854;OTTHUMP00000227855;renal cell carcinoma antigen;renal cell carcinoma antigen (MOK protein kinase);renal tumor antigen 1 APPROVED protein-coding ENSG00000080823 HGNC:9833 09310 605762 REVIEWED 2303852 MORC2-AS1 MORC2 antisense RNA 1 INTERACTS WITH benzo[a]pyrene diol epoxide I; paracetamol 22 22 22 q12.2 15118439 15122783 + 31318295 31322641 + 30922308 30926654 + 6480464 12477932;14702039;15489334;16344560 150291 ABBA01055314;AC004542;AI023837;AK093120;AK098685;AMYH02038224;AMYH02038225;BC042980;BC065553;BC117160;BC117186;CH471095;DB038414;NR_026920 ACE86614;ACE86618;ACE87295;ACE87299;BAC04061;BAC05377;EAW59920 Hs.592202 1777234;2138954;2161199;5093578;5493689 A009S11;G32802;RH45984;RH77827;UniSTS:490347 C22orf27;FLJ35801;NCRNA00325 APPROVED ncrna ENSG00000235989 HGNC:26662 08191 VALIDATED 1321422 MORC1 MORC family CW-type zinc finger 1 This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009] 3 3 3 q13 107074840 107234730 - 108676814 108836993 - 108957967 109118146 - 6480464;8554872 10369865;11060461;12477932;15489334;20379614;21139048;24204828 27136 Q86VD1 ABBA01061698;AC016948;AC112138;AF084946;AK302642;AL353955;AMYH02007402;AMYH02007403;BC028680;BC050307;CH471052;NM_014429;XM_005247362 AAD43004;AAH50307;ADZ15633;BAG63883;CAB89255;EAW79714;NP_055244;Q86VD1;XP_005247419 Hs.591296 1658597;1715999 AFM211XF4;RH122742 CT33;MORC;ZCW6 MORC family CW-type zinc finger protein 1;OTTHUMP00000214351;OTTHUMP00000214352;cancer/testis antigen 33;microrchidia, mouse, homolog of APPROVED protein-coding ENSG00000114487 HGNC:7198 04439 603205 REVIEWED 736817 MOG myelin oligodendrocyte glycoprotein The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 31230837 31246226 + 29624758 29640149 + 29656981 29672372 + 1580863;6480464;8699517;7240710;8554872 11118029;11739534;11895369;12077287;12115610;12149493;12477932;12482392;12817031;1373175;14574404;14688379;15146195;15660663;16344560;16900754;16903876;17142321;17402967;17509152;17554625;17573820;17897745;17928868;17971048;18001301;18753473;19034380;19165527;19167444;19615732;19687098;19851445;19907433;19913121;20379614;20452030;20471030;20549678;20593013;20628086;20685767;20800907;21083890;21177754;21653833;21795651;21880773;21907016;22093619;22204662;22412388;22494461;23032943;23284291;24415568;24935259;7790876;7964757;8367453;8530032;8666381;8812306;8915905;9210466 4340 B7Z2X8;C9JTE0;E9PG44;H0Y8A0;H7BYC0;Q16653;Q5SSB8 AB209815;ABBA01038033;ABBA01038034;AI205181;AK295213;AK308949;AK312892;AL050328;AL119259;AL645936;AL662826;AL669813;AL929591;AMYH02013415;AY566846;AY566847;AY566848;AY566851;AY566852;AY566853;AY566854;BC035938;BG699861;BI545470;BX107434;BX120002;BX927250;CH471081;CR388408;CR759766;CR936483;DA139582;DA140757;DA252279;DA253273;NG_031873;NM_001008228;NM_001008229;NM_001170418;NM_002433;NM_206809;NM_206810;NM_206811;NM_206812;NM_206814;U18798;U18799;U18800;U18801;U18803;U18840;U18843;U64564;U64565;U64566;U64567;U64568;U64569;U64570;U64571;X74511;XM_005249131;XM_005249139;XM_005249140;XM_005272820;XM_005272829;XM_005272830;XM_005274865;XM_005274874;XM_005274875;XM_005274977;XM_005274986;XM_005275125;XM_005275134;XM_005275252;XM_005275261;XM_005275262;XM_005275410;XM_005275419;XM_005275558;XM_005275567;XM_005275568;Z48051 AAB08088;AAB08089;AAB08090;AAB08091;AAB08092;AAB08093;AAB08094;AAB08095;AAB36870;AAC50361;AAC50362;AAC50876;AAC50877;AAC50878;AAC50879;AAH35938;AAU09337;AAU09338;AAU09339;AAU09342;AAU09343;AAU09344;AAU10102;ABM83300;ABM86511;ABM86512;ABW03311;BAD93052;BAG35739;BAH12014;CAA52617;CAA88109;CAB89267;CAB89268;CAB89269;CAB89270;CAB89271;CAB89273;CAB89274;EAX03213;EAX03214;EAX03215;EAX03216;EAX03217;EAX03218;EAX03219;EAX03220;NP_001008229;NP_001008230;NP_001163889;NP_002424;NP_996532;NP_996533;NP_996534;NP_996535;NP_996537;Q16653;XP_005249188;XP_005249196;XP_005249197;XP_005272877;XP_005272886;XP_005272887;XP_005274922;XP_005274931;XP_005274932;XP_005275034;XP_005275043;XP_005275182;XP_005275191;XP_005275309;XP_005275318;XP_005275319;XP_005275467;XP_005275476;XP_005275615;XP_005275624;XP_005275625 Hs.141308 1673844;1743295;2189645;2189647;2220064;2220066;5015961 D15S1477;D6S2831;D6S2870;GDB:314693;MOGa;MOGd;SGC35627 BTN6;BTNL11;MGC26137;MOGIG-2;MOGIG2;NRCLP7 MOG Ig-AluB;MOG alpha-5;OTTHUMP00000029120;OTTHUMP00000029121;OTTHUMP00000029122;OTTHUMP00000029123;OTTHUMP00000029124;OTTHUMP00000029125;OTTHUMP00000029126;OTTHUMP00000029127;OTTHUMP00000109158;OTTHUMP00000214816;OTTHUMP00000214817;OTTHUMP00000214867;OTTHUMP00000214868;OTTHUMP00000214869;myelin-oligodendrocyte glycoprotein APPROVED protein-coding ENSG00000204655 HGNC:7197 11831 159465;614250 REVIEWED 1604635 MON2 MON2 homolog (S. cerevisiae) INVOLVED IN Golgi to endosome transport (ortholog); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsane; arsenic atom 12 12 12 q14.1 62529622 62659910 + 62860597 62991363 + 62466817 62597583 + 6480464 10470851;11076863;11230166;12477932;14702039;15489336;16301316;16344560;16381901;18418388;21139048;21450827;21890473;22678362;22863883;23382691;23956138;24285343;25015289 23041 B7ZM73;F8VQS2;F8VZV1;F8VZV6;Q7Z3U7 AB017814;AB028963;ABBA01026631;ABBA01026632;ABBA01026633;ABBA01026634;AC026115;AC079035;AK022671;AK092646;AK123842;AL833066;AL834320;AMYH02026633;AMYH02026634;AMYH02026635;BC065289;BC136621;BC141817;BC142710;BC144309;BC144324;BC151241;BX537415;DA125763;NM_001278469;NM_001278470;NM_001278471;NM_001278472;NM_015026;XM_005268731;XM_005268732;XM_005268734;XM_005268735;XM_005268736;XR_429085 AAH65289;AAI36622;AAI41818;AAI42711;AAI44310;AAI51242;BAA82992;BAC03935;BAC11707;BAG51103;BAG53968;CAD38989;CAD89933;CAD97657;CAL37997;NP_001265398;NP_001265399;NP_001265400;NP_001265401;NP_055841;Q7Z3U7;XP_005268788;XP_005268789;XP_005268791;XP_005268792;XP_005268793 Hs.389378 1676065;1699100;1746101;1746571;1757835;5014019;5020948 D5S2354;G35510;G64473;G64492;RH103126;RH79625;SHGC-146659 KIAA1040;MGC35493 OTTHUMP00000242574;OTTHUMP00000242611;OTTHUMP00000242613;OTTHUMP00000242614;OTTHUMP00000242622;protein MON2 homolog protein-coding HGNC:29177 11123 VALIDATED 1348273 MORF4 mortality factor 4 Cellular senescence, the terminal nondividing state that normal cells enter following completion of their proliferative potential, is the dominant phenotype in hybrids of normal and immortal cells. Fusions of immortal human cell lines with each other have led to their assignment to 1 of several complementation groups. MORF4 is a gene on chromosome 4 that induces a senescent-like phenotype in cell lines assigned to complementation group B.[supplied by OMIM, Apr 2004] 4 4 4 q34.1 2057 2764 + 174537087 174537794 - 173615936 173616643 - 1580863;6480464;8554872 10232582;10705034;11290425;12391155;12407449;12477932;17460191;19769966;20536842;20600782;2062841;23251661;9891081 10934 ABBA01070380;AC079789;AF100614;AMYH02010523;NG_028235 AAD29871;AAI72311 1791598 PMC116076P2 CSR;CSRB;SEN;SEN1 senescence (cellular)-related 1;senescence-related, cellular, 1 APPROVED pseudo HGNC:15773 15916 116960 INFERRED 1345473 MORC4 MORC family CW-type zinc finger 4 In human, the four current members of the microrchidia (morc) gene family share an N-terminal ATPase-like ATP-binding region and a CW four-cysteine zinc-finger motif. The protein encoded by this gene also has a nuclear matrix binding domain and a two-stranded coiled-coil motif near its C-terminus. This gene is widely expressed at low levels in normal tissues and has elevated expression in placenta and testis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010] X X X q22.3 106655351 106714844 - 106183964 106243474 - 106940734 107000244 - 1580863;6480464 14607086;14702039;15231748;15772651;15790807;16344560;17608765;21890473;21906983;21963094;21988832;23143602;23946598;24163370 79710 B4DTP6;Q8TE76;S4R3U3 ABBA01035838;ABBA01035839;ABBA01035840;ABBA01035841;ABBA01035842;ABBA01035843;ABBA01035844;ABBA01035845;ABBA01035846;ABBA01035847;ABBA01035848;ABBA01035849;AK021627;AK056235;AK300305;AL158821;AMYH02040209;AMYH02040210;AY927537;BQ101064;CA448781;CB989767;CH471120;DA713534;EF125209;EF125210;NG_016392;NM_001085354;NM_024657;XM_005262190;XM_006724691;XM_006724692 AAI72254;AAI72575;ABL84747;ABL84748;BAB13859;BAB71125;BAG62058;EAX02725;EAX02726;EAX02727;EAX02728;NP_001078823;NP_078933;Q8TE76;XP_005262247;XP_006724754;XP_006724755 Hs.496544 1679473;1681514;1739507 DXS7548;RH80420;RH93988 FLJ11565;ZCW4;ZCWCC2;dJ75H8.2 MORC family CW-type zinc finger protein 4;OTTHUMP00000023794;OTTHUMP00000226628;zinc finger CW-type coiled-coil domain protein 2;zinc finger, CW type with coiled-coil domain 2 APPROVED protein-coding ENSG00000133131 HGNC:23485 06757 REVIEWED 1348437 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008] 20 20 20 q11.2-q13.1 41348998 41356660 + 44637547 44645200 + 46008908 46016561 + 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4318 P14780 ABBA01052673;ABBA01052674;AF148064;AF538844;AK298246;AK301446;AK302530;AK303080;AK313137;AK316145;AL162458;AMYH02037155;AMYH02037156;AW468235;AX011001;BC006093;CH471077;CN288579;D10051;DQ194553;HQ874462;J05070;M68351;M68355;NG_011468;NM_004994 AAA51539;AAD37404;AAH06093;AAM97934;ABA03169;ABM87790;ABW03866;AEA49029;BAA20967;BAG35956;BAH12743;BAH13483;BAH13736;BAH13895;BAH14516;CAC07541;EAW75776;NP_004985;P14780 Hs.297413 1341311;1683575;1744529;1792522;1795100;5021304;5094717 D20S838;GDB:512297;Mmp9;PMC152639P2;PMC97903P1;RH11668;WI-7659 CLG4B;GELB;MANDP2;MMP-9 92 kDa gelatinase;92 kDa type IV collagenase;OTTHUMP00000031674;macrophage gelatinase;matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase);matrix metalloproteinase-9;type V collagenase APPROVED protein-coding ENSG00000100985 HGNC:7176 00387 120361;613073 REVIEWED 1349684 MORF4L1P2 mortality factor 4 like 1 pseudogene 2 12 12 12 p13.2 17494881 17496845 - 12351831 12353802 - 12198897 12200868 - 20697350;9891081 326594 ABBA01067829;AC007537;AF100617;AF100618;AMYH02026053;AMYH02026054;NG_002591;NG_016168 MORF4LP2;MORF4LP4;MRG5 APPROVED pseudo HGNC:20401 INFERRED 1321976 MORC2 MORC family CW-type zinc finger 2 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (+)-catechin; 2-methylcholine; all-trans-retinoic acid 22 22 22 q12.2 15122742 15164330 - 31322598 31364483 - 30925138 30968497 - 1580863;6480464;8554872 10048485;10591208;12477932;14607086;15302935;15461802;15489334;16051665;16565220;16964243;17081983;19471022;20110259;20225202;21145461;21693764;21890473;21906983;21963094;23000965;23260667;24163370;24286864;24816145 22880 H7C1V1;H7C3M1;Q9Y6X9 AB020659;ABBA01055314;ABBA01055315;AC004542;AL133637;AMYH02038225;AMYH02038226;BC019257;BC136782;CH471095;CR456469;KF511445;NM_014941;XM_005261391;XM_005261392 AAC12954;AAH19257;AAI36783;AAI41658;BAA74875;CAB63760;CAG30355;CAK54450;CAK54749;EAW59921;EAW59922;NP_055756;Q9Y6X9;XP_005261448;XP_005261449 Hs.555918 1777234;2138954;2161564;2191367;5093578 A009S11;G31567;G32802;MARC_17891-17892:1025017229:1;RH77827 ZCW3;ZCWCC1 MORC family CW-type zinc finger protein 2;OTTHUMP00000199346;OTTHUMP00000199347;zinc finger CW-type coiled-coil domain protein 1;zinc finger, CW type with coiled-coil domain 1;zinc finger, CW-type with coiled-coil domain 1 protein-coding ENSG00000133422 HGNC:23573 11699 PROVISIONAL 1342535 MORF4L1P3 mortality factor 4 like 1 pseudogene 3 11 11 11 p15 14820199 14820908 - 14695128 14695835 - 14673582 14674289 - 9891081 326593 ABBA01061101;AC087207;AF100619;AMYH02024359;NG_002590 MORF4LP3;MRG11 APPROVED pseudo HGNC:20402 INFERRED 1352945 MORF4L1P1 mortality factor 4 like 1 pseudogene 1 1 1 1 q41 193646387 193647094 + 220427176 220427883 + 220253834 220254541 + 9891081 326591 ABBA01048081;AF100616;AL445435;AMYH02002731;NG_002588;NG_015837 1791596 PMC116076P1 MORF4LP1;MRG1 APPROVED pseudo HGNC:20400 INFERRED 4889249 MORF4L1P4 mortality factor 4 like 1 pseudogene 4 13 13 13 22831379 22832247 - 41773944 41774812 - 41199808 41200676 - 100420030 ABBA01021275;AL354696;AMYH02027917;NG_024849 pseudo HGNC:39257 INFERRED 3322044 MORF4L1P5 mortality factor 4 like 1 pseudogene 5 X X X q11.2 64894696 64897899 - 64547871 64551074 - 65327991 65331194 - 100129288 ABBA01066998;AL441964;AMYH02039609;NG_022605 MORF4LP5 APPROVED pseudo HGNC:35425 INFERRED 6481522 MORF4L1P6 mortality factor 4 like 1 pseudogene 6 X X 72694399 72694666 + 73474563 73474830 + 100873878 ABBA01059675;AL450108;AMYH02039771;NG_032238 pseudo HGNC:39258 INFERRED 1317400 MORC3 MORC family CW-type zinc finger 3 This gene encodes a protein that localizes to the nuclear matrix. The protein also has RNA binding activity, and has a predicted coiled-coil domain. [provided by RefSeq, Jul 2008] 21 21 21 q22.13 22890890 22947343 + 37692360 37749999 + 36320189 36376646 + 1580863;6480464 10830953;11927593;12477932;14607086;14702039;16341674;16344560;16567619;17332504;18029348;19013454;19471022;20360068;20501696;21139048;21252943;21693764;21890473;21906983;21963094;21987572;21988832;22053931;22258483;22505724;22546500;23000965;23153538;24037894;24250222;25015289;25027693;8590280;8889548 23515 B4DHJ4;H0YHQ4;H0YIR5;Q14149;Q4VBZ9 ABBA01057391;ABBA01057392;ABBA01057393;ABBA01057394;ABBA01057395;AK025327;AK125011;AK292957;AK295133;AMYH02037778;AMYH02037779;AMYH02037780;AMYH02037781;AP000692;AP000693;BC007311;BC042609;BC058002;BC094779;BC132731;BC144116;BM665866;BM786077;BU657895;CH471079;D50926;DA702537;NM_015358;XM_006723985;XM_006723986 AAH42609;AAH94779;AAI32732;BAA09485;BAA89432;BAF85646;BAG58156;EAX09742;NP_056173;Q14149;XP_006724048;XP_006724049 Hs.421150 1652478;1659048;1663850;1681953;2111127;2114440;2169896;2169898;5015861;5022578;5037552;7185938 D10S16;D1S1423;D5S573E;D8S2279;RH25359;SHGC-52053;SHGC-87610;SHGC-87618;STS-H79319;STS-R69762;WI-17090 NXP2;ZCW5;ZCWCC3 MORC family CW-type zinc finger protein 3;OTTHUMP00000109017;nuclear matrix protein NXP2;zinc finger CW-type coiled-coil domain protein 3;zinc finger, CW type with coiled-coil domain 3;zinc finger, CW-type with coiled-coil domain 3 APPROVED protein-coding ENSG00000159256 HGNC:23572 10316 610078 REVIEWED 4889243 MORF4L1P7 mortality factor 4 like 1 pseudogene 7 1 1 1 q25.2 149447470 149448399 - 176336842 176337771 - 176367706 176368635 - 100130637 ABBA01027863;AL591043;AMYH02002196;NG_022744 1337153 D1S2887 pseudo HGNC:39259 INFERRED 6893063 MORF4L2-AS1 MORF4L2 antisense RNA 1 INTERACTS WITH valproic acid X X q22.2 102942212 102947488 + 103687284 103692560 + 6480464 12477932;16344560 340544 ABBA01032875;AK124135;AL049610;AMYH02040171;BC043382;BG149455;BI832939;DA678830;HG512643;NR_038978 Hs.441076 1771633;2170987 A007G13;STS-R92984 RP5-1055C14.7 ncrna HGNC:27991 VALIDATED 1352910 MORF4L2P1 mortality factor 4 like 2 pseudogene 1 4 4 4 q12 52452530 52454296 + 54952852 54954618 + 54086685 54088451 + 9847074;9891081 643915 ABBA01003397;AC110792;AMYH02009226;NG_011863 1681748;1756971 RH25264;SHGC-144140 MORF4LP4;MRG4 APPROVED pseudo HGNC:20403 INFERRED 1347861 MORF4L2 mortality factor 4 like 2 INVOLVED IN chromatin modification (inferred); chromatin organization (inferred); DNA repair (inferred); PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN nucleolus; nucleus; INTERACTS WITH (+)-catechin; 5-azacytidine; 5-fluorouracil X X X q22 103369434 103382094 - 102930426 102943086 - 103675498 103688158 - 1580863;6480464;9495926 21502417 10942595;11988016;12391155;12477932;12963728;14506250;14702039;15489334;15647280;15772651;16230350;16341674;16344560;17353931;17573780;18593893;19553677;20332121;20972266;21139048;21693764;21903422;21963094;22053931;24250222;24332808;24816145;25036637;7584026;7584028;8125298;9891081 9643 Q15014;Q5JXX1;Q5JXX2;Q5JXX6 AB050778;AB050779;ABBA01032875;AF100620;AF167174;AK056012;AK095298;AK126115;AK126427;AK223504;AK302083;AL049610;AMYH02040171;BC056899;BC093013;BM471743;BM835303;CH471190;D14812;DA068448;DA268606;DA987770;DC301727;DC366195;DC419967;DC424668;NM_001142418;NM_001142419;NM_001142420;NM_001142421;NM_001142422;NM_001142423;NM_001142424;NM_001142425;NM_001142426;NM_001142427;NM_001142428;NM_001142429;NM_001142430;NM_001142431;NM_001142432;NM_012286 AAD29873;AAF80855;AAH56899;AAH93013;ABZ92277;ACE87818;ACT64561;BAA03553;BAC22659;BAD97224;BAG51604;BAG54288;BAG54326;BAG63470;EAW54697;EAW54698;EAW54699;EAW54700;EAW54701;NP_001135890;NP_001135891;NP_001135892;NP_001135893;NP_001135894;NP_001135895;NP_001135896;NP_001135897;NP_001135898;NP_001135899;NP_001135900;NP_001135901;NP_001135902;NP_001135903;NP_001135904;NP_036418;Q15014 Hs.326387 1652609;1681748;1788722;2140011;2144095 DXS7488;RH126514;RH17381;RH25264;SHGC-30053 KIAA0026;MORFL2;MRGX MORF-related gene X protein;MSL3-2 protein;OTTHUMP00000023750;OTTHUMP00000023751;OTTHUMP00000023752;OTTHUMP00000023753;OTTHUMP00000023754;OTTHUMP00000023755;OTTHUMP00000023756;mortality factor 4-like protein 2;protein MSL3-2;transcription factor-like protein MRGX protein-coding ENSG00000123562 HGNC:16849 02326 300409 VALIDATED 1317423 MORF4L1 mortality factor 4 like 1 ENCODES a protein that exhibits protein N-terminus binding; INVOLVED IN double-strand break repair via homologous recombination; histone deacetylation; histone H2A acetylation; PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN NuA4 histone acetyltransferase complex; Sin3 complex; INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 15 15 15 q24 56101535 56126422 + 79132903 79190081 + 78872781 78897739 + 1580863;6480464;9495926;8554872 21502417 11042152;11500496;12391155;12397079;12477932;12963728;14506250;14702039;14966270;15196461;15367658;15489334;15498874;15635413;15647280;15840729;16189514;16387653;16407074;17008723;17135209;17353931;17460191;17573780;17577209;18218781;18781797;19322201;19553677;20332121;20379614;20844547;20972266;21139048;21378988;21440557;21466675;21706008;21832049;21890473;21903422;21906983;22467210;22505724;22728643;22939629;23000965;23537643;23585894;24250222;24816145;25015289;8619474;9110174;9891081 10933 B3KTM8;H0YLJ3;H0YLV1;H0YM21;H0YMJ0;H0YMT8;H0YNE0;H0YNI8;H0YNX3;Q9UBU8 ABBA01060598;AC011944;AC103975;AF070664;AF100615;AF109188;AF131847;AF161546;AF167173;AF218011;AK095823;AK098485;AK296650;AK300789;AK310181;AK310592;AK310702;AL137697;AMYH02030870;AMYH02030871;AY148481;BC002936;BC022845;BC067826;BC121092;BC121093;BC141840;BG771854;BM996530;BX382045;CH471136;CX165647;DB455429;NM_001265603;NM_001265604;NM_001265605;NM_006791;NM_206839 AAD20058;AAD20970;AAD29872;AAF29033;AAF80854;AAG17253;AAH02936;AAH22845;AAH67826;AAI21093;AAI21094;AAI41841;AAN65338;AAQ13497;ABM83528;ABM86763;BAG53140;BAG59248;BAH13347;CAB70879;EAW99144;EAW99145;EAW99146;EAW99147;NP_001252532;NP_001252533;NP_001252534;NP_006782;NP_996670;Q9UBU8 Hs.374503 1678973;1736476;1791596;5493339 D15S688E;PMC116076P1;RH79797;UniSTS:485783 Eaf3;FWP006;HsT17725;MEAF3;MGC10631;MORFRG15;MRG15;S863-6 Esa1p-associated factor 3 homolog;MORF-related gene 15 protein;MORF-related gene on chromosome 15;OTTHUMP00000185040;mortality factor 4-like protein 1;protein MSL3-1;transcription factor-like protein MRG15 protein-coding ENSG00000185787 HGNC:16989 09532 607303 VALIDATED 2303892 MORN2 MORN repeat containing 2 INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; ethyl methanesulfonate 2 2 2 p22.1 38943818 38950565 + 39103103 39109850 + 38875962 38882709 + 6480464 11181995;12477932;14702039;15489334;16169070;17924679;19451621;19913896;23251661 729967 B8ZZ40;B8ZZN7;F8WEM8;Q502X0 ABBA01075022;AC018693;AF449188;AF449189;AF449190;AF449191;AMYH02003633;AY367766;BC095472;BC102032;BC102034;BC102035;BE466470;CH471053;KF510812;NM_001145450 AAH95472;AAI02033;AAI02035;AAI02036;AAQ73170;EAX00355;NP_001138922;Q502X0 Hs.729207 1694802;1697402;1705876;1719037;1719065;1721629;1734850;1779932 D2S1598E;G43628;G59825;RH102201;RH123225;RH123836;SHGC-154181;SHGC-81200 BLOCK27;MGC111382;MGC126130;MGC126131;MGC126132;MOPT MORN motif protein in testis;MORN repeat-containing protein 2;OTTHUMP00000158741;OTTHUMP00000204075;OTTHUMP00000204077;OTTHUMP00000204078;protein containing single MORN motif in testis protein-coding ENSG00000188010 HGNC:30166 VALIDATED 1603521 MORN3 MORN repeat containing 3 FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene (ortholog); paracetamol (ortholog); titanium dioxide (ortholog) 12 12 12 q24.31 121728304 121746567 - 122089024 122110531 - 121651387 121672625 - 6480464 12477932;15489334;17207965 283385 Q6PF18 ABBA01020180;AC084018;AC140062;AMYH02027397;AY177732;BC057760;CH471054;NM_173855;XM_005253869;XR_242999 AAH57760;AAO18675;ADQ32969;EAW98271;EAW98272;EAW98273;EAW98274;NP_776254;Q6PF18;XP_005253926 Hs.434154 1679507;1853270 G29080;RH94139 MGC71497 MORN repeat-containing protein 3;OTTHUMP00000240040;OTTHUMP00000240041;OTTHUMP00000240042;membrane occupation and recognition nexus repeat containing protein protein-coding ENSG00000139714 HGNC:29807 17330 VALIDATED 735699 MOS v-mos Moloney murine sarcoma viral oncogene homolog MOS is a serine/threonine kinase that activates the MAP kinase cascade through direct phosphorylation of the MAP kinase activator MEK (MAP2K1; MIM 176872) (Prasad et al., 2008 [PubMed 18246541]).[supplied by OMIM, Jul 2009] 8 8 8 q11 53016252 53017292 - 57025501 57026541 - 56112942 56113982 - 1580863;6480464;6907045 10376524;10439036;11180847;12022922;12477932;15188402;15341746;15489334;16401344;17207965;17410130;17474147;18187620;18246541;18391951;18550795;20186124;20546612;22252584;22939624;23595635;24163370;3000766;6287464;7540181;9001211;9008413;9552420 4342 P00540 ABBA01041763;AC107376;AMYH02018018;BC069569;BC069590;BC106737;BC106738;CH471068;J00119;NM_005372 AAA52029;AAH69569;AAH69590;AAI06738;AAI06739;ADQ31986;EAW86773;NP_005363;P00540 Hs.533432 1667751;1744093;2110577;2190851;5492591 GDB:386777;MOS;MOS__6333;RH17579;UniSTS:481735 MGC119962;MGC119963;MSV;c-mos OTTHUMP00000226404;oncogene MOS, Moloney murine sarcoma virus;oocyte maturation factor mos;proto-oncogene c-Mos;proto-oncogene serine/threonine-protein kinase mos APPROVED protein-coding ENSG00000172680 HGNC:7199 01816 190060 VALIDATED 1602465 MORN1 MORN repeat containing 1 INTERACTS WITH (+)-catechin; aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.33-p36.32 263756 338268 + 2251719 2323190 - 2320280 2391751 - 6480464 12477932;14702039;15489334;16710414;21906983;24250222 79906 B4DRE3;Q5T088;Q5T089;U3KQS9 ABBA01016093;ABBA01016094;AI188092;AI674190;AK024003;AK128431;AK299217;AK310323;AL513477;AL589739;AL590822;AMYH02000121;AMYH02000122;BC021704;BC029954;BU741473;CH471183;DB041436;NM_001301060;NM_024848;NR_125361;XM_005244798;XM_005244799;XM_006710906 AAH21704;BAB14768;BAG61255;EAW56115;NP_001287989;NP_079124;Q5T089;XP_005244855;XP_005244856;XP_006710969 Hs.642701;Hs.661079 1644914;1849554;2159742;2178812 G27843;SHGC-74095;SHGC-74112;SHGC-74118 FLJ13941;RP4-740C4.1 MORN repeat-containing protein 1;OTTHUMP00000001498;OTTHUMP00000001499 protein-coding ENSG00000116151 HGNC:25852 07843 VALIDATED 1352282 MOSPD4 motile sperm domain containing 4 404028 AK008233 HGNC:31345 1316472 MORN4 MORN repeat containing 4 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 10 10 10 q24.2 93111622 93131220 - 99374310 99393913 - 97614553 97634156 - 737633;6480464;8554872 12477932 11076863;11230166;15489336;16381901;17285308 118812 A6XB87;G3V1L7;Q8NDC4;Q8WVZ3 ABBA01021797;ABBA01021798;AJ312050;AJ431726;AK098791;AK289406;AL355315;AL834132;AMYH02023611;AMYH02023612;BC010230;BC022054;BC040015;BC093023;CH471066;DQ338435;DQ338436;NM_001098831;NM_178832 AAH10230;AAH22054;AAH40015;AAH93023;ABC61705;ABC61706;BAF82095;CAC85055;CAD24475;CAD38849;CAL37447;CAL38377;EAW49908;EAW49909;EAW49910;EAW49911;NP_001092301;NP_849154;Q8NDC4 Hs.217409 1670620;1683665;1699374;5022578 D1S1423;RH103274;RH91271;SHGC-37499 C10orf83;FLJ25925;RP11-548K23.4;bA548K23.4 44050 protein;MORN repeat-containing protein 4;OTTHUMP00000020221;OTTHUMP00000020223;OTTHUMP00000236948;protein 44050;retinophilin protein-coding ENSG00000171160 HGNC:24001 16584 VALIDATED 1317107 MORN5 MORN repeat containing 5 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH amiodarone; valproic acid; 3,4-methylenedioxymethamphetamine (ortholog) 9 9 9 q33.2 95570479 95610667 + 124922190 124962368 + 122159871 122200089 + 6480464;8554872 12477932;20583170;24250222 254956 Q5T7S4;Q5VZ52 ABBA01043709;AI026684;AI560944;AK128877;AK302081;AL162423;AL162424;AMYH02021586;BC133690;BC143440;CH471090;HY011325;NM_001286828;NM_198469;XM_005251877;XM_005251878;XM_006717034 AAI33691;BAC87653;BAH13621;EAW87512;EAW87513;EAW87514;NP_001273757;NP_940871;Q5VZ52;XP_005251934;XP_005251935;XP_006717097 Hs.71428 1786978 SHGC-145840 C9orf113;C9orf18;FLJ46909;FLJ50034;RP11-498E2.5 MORN repeat-containing protein 5;OTTHUMP00000022035 protein-coding ENSG00000185681 HGNC:17841 12947 VALIDATED 1347086 MOSPD1 motile sperm domain containing 1 ENCODES a protein that exhibits structural molecule activity (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (ortholog); positive regulation of transcription from RNA polymerase II promoter (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (ortholog); nucleus (ortholog); perinuclear region of cytoplasm (ortholog); INTERACTS WITH (-)-demecolcine; 1-nitropyrene; 2,3,7,8-tetrachlorodibenzodioxine X X X q26.3 134408422 134436071 - 134021656 134049314 - 134887626 134915267 - 737633;1580863;6480464;8554872 12477932 15489334;15533722;15772651;18781797;21139048 56180 Q2I381;Q9UJG1 ABBA01042499;ABBA01042500;ABBA01042501;ABBA01042502;ABBA01042503;AF086333;AK299074;AK299172;AK307196;AK316570;AL137163;AMYH02040535;BC005700;CH471107;CQ834430;DQ323992;NM_019556;XM_005262446;Z83826 AAH05700;ABC88594;ABM82054;ABM85233;BAG38159;BAG61140;BAG61218;CAB69662;CAH05430;EAX11743;EAX11744;NP_062456;Q9UJG1;XP_005262503 Hs.590789 1655533;1672056;1687752;2133740;2142522;2219940 AL008943;MOSPD1__6334;RH45483;RH47898;RH93773;WI-12657 DJ473B4 OTTHUMP00000033250;OTTHUMP00000033251;OTTHUMP00000033252;motile sperm domain-containing protein 1 protein-coding ENSG00000101928 HGNC:25235 06483 300674 PROVISIONAL 1345883 MOV10L1 Mov10 RISC complex RNA helicase like 1 This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 22 22 22 q13.33 34403662 34475028 + 50528435 50600119 + 50090006 50161690 + 1580863;6480464;8554872 10591208;11279525;11839499;12477932;14702039;15342556;15461802;20379614;23251661;23942779 54456 F2Z2H1;H7C1D5;Q9BXT6 ABBA01011369;ABBA01011370;ABBA01011371;AF285604;AK000033;AK090740;AK092675;AK302401;AK303017;AK307675;AL022328;AL034546;AL133068;AMYH02038596;AMYH02038597;BC029552;BC042828;BC063837;BC140944;BC150137;BC152539;BP382225;CH471138;CR456466;DB451595;NM_001164104;NM_001164105;NM_001164106;NM_018995;XM_005261923;XM_005261924;XM_006724418;XR_430479 AAH29552;AAH42828;AAI39928;AAI40945;AAI50138;AAI52540;AAK31983;BAA90895;BAC03511;BAG52591;BAH13697;BAH13879;CAB61391;CAG30352;CAK54447;CAK54746;EAW73492;EAW73493;NP_001157576;NP_001157577;NP_001157578;NP_061868;Q9BXT6;XP_005261980;XP_005261981;XP_006724481 Hs.62880 1682724;1686394;1781130;5022322;5107159 D11S2560;G65766;RH94076;RH94173;stdJ406J13S CHAMP;DJ402G11.8;DKFZp434B0717;FLJ33421 MOV10-like protein 1;Mov10-like 1;Mov10l1, Moloney leukemia virus 10-like 1, homolog;OTTHUMP00000028556;OTTHUMP00000196715;OTTHUMP00000196718;cardiac helicase activated by MEF2C protein;moloney leukemia virus 10-like protein 1;putative helicase Mov10l1 APPROVED protein-coding ENSG00000073146 HGNC:7201 16158 605794 REVIEWED 1350806 MOSPD2 motile sperm domain containing 2 ENCODES a protein that exhibits structural molecule activity (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine; cisplatin X X X p22.2 19006911 19054670 + 14891527 14940288 + 14873405 14922166 + 737633;1580863;6480464 12477932 14702039;15489334;16344560;17081983;18029348;19322201;19946888;21139048;21890473;21906983;23000965;23192594 158747 Q8NHP6;R4GMN1;R4GMW5;R4GNB6 ABBA01071244;ABBA01071245;ABBA01071246;ABBA01071247;ABBA01071248;ABBA01071249;AC121340;AC140846;AI744083;AK057941;AK093075;AK315781;AL832230;AL834345;AMYH02038908;BC030641;CH471074;DA708010;KF458987;NG_017159;NM_001177475;NM_152581;XM_005274451;XM_006724467 AAH30641;ABW03583;BAC04043;CAD39011;EAW98864;EAW98865;EAW98866;EAW98867;NP_001170946;NP_689794;Q8NHP6;XP_005274508;XP_006724530 Hs.744919 1673790;2129754;2187456 RH68032;RH77754;WI-14561 DKFZp686C1553;MGC26706 OTTHUMP00000022954;motile sperm domain-containing protein 2 protein-coding ENSG00000130150 HGNC:28381 06642 VALIDATED 1352706 MPC1 mitochondrial pyruvate carrier 1 The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012] 6 6 6 q27 167517772 167535855 - 166778407 166796501 - 166364919 166383013 - 6480464;8699517;7240710;8554872 10810093;11042152;11252172;12477932;15489334;16169070;17672918;19834535;20877624;21139048;22628558;24816145 51660 H7BXW7;Q5TI65;Q9Y5U8 ABBA01033445;AF125101;AF151887;AF275811;AK312201;AL022069;AL556427;AL561589;AMYH02014965;AMYH02014966;BC000810;BF665465;BG828174;CH471051;DC402302;NG_032888;NM_001270879;NM_016098;NR_073093;XM_006715499 AAD34124;AAD39918;AAG23822;AAH00810;BAG35134;EAW47527;EAW47528;EAW47529;EAW47530;EAW47531;NP_001257808;NP_057182;Q9Y5U8;XP_006715562 Hs.172755 1678529;1767127;1767129;1858458;2109093;2142415;2151776;2181268 BRP44L_9749;D6S2045;G20555;RH46753;RH79004;STS-G20555;STS-H93543;STS-T87067 BRP44L;CGI-129;MPYCD;dJ68L15.3 HSPC040 protein;OTTHUMP00000017591;brain protein 44-like protein APPROVED protein-coding ENSG00000060762 HGNC:21606 07091 614738;614741 REVIEWED 1641965 MOXD2P monooxygenase, DBH-like 2, pseudogene ENCODES a protein that exhibits copper ion binding (inferred); oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (inferred); INVOLVED IN oxidation-reduction process (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,4,6-trinitrobenzenesulfonic acid (ortholog); alachlor (ortholog) 7 7 7 q34 136718050 136724380 - 141940556 141946886 - 142240737 142247067 - 6480464 12853948;15489334;17642472;18523312;18777093;19051206;19056690;19380806;2144610;2426193;3011602;3860845;3983641;8650574 100289017 A6NHM9 ABBA01034123;AC231381;AC245088;DY655576;NG_001333;NR_024346 A6NHM9 Hs.641504 MOXD2 APPROVED pseudo ENSG00000240268 HGNC:33605 VALIDATED 1345261 MPD1 myopathy, distal 1 ASSOCIATED WITH Cardiomyopathy, Dilated, 1s (inferred); Cardiomyopathy, Familial Hypertrophic, 1 (inferred); Distal Myopathies (inferred) 7240710 7847377 4347 HGNC:7206 160500;181430;192600;608358;613426 1321654 MOV10 Mov10 RISC complex RNA helicase ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA cleavage involved in gene silencing by miRNA; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic mRNA processing body; extracellular space; INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; copper(2+) sulfate 1 1 1 p13.2 111447519 111473840 + 113217048 113243368 + 112674312 112700753 + 1580863;6480464;8554872 10997877;11076863;11230166;12226669;12477932;14702039;15489334;15489336;16289642;16344560;16381901;16710414;17081983;17148452;17353931;17643375;18552826;19665004;20020773;20140200;20186120;20215113;20360068;20543829;20668078;21139048;21145461;21282530;21642987;21890473;21903422;21906983;21909110;21909115;22105071;22505724;22586326;22727223;22791714;22939629;22990118;23000965;23125841;23443559;23455922;23754279;23926332;24332808;24338417;24457600;24726324;24778252;24816145;8125298 4343 Q5JR04;Q9H8T8;Q9HCE1 AB046851;ABBA01068416;AK023297;AK057353;AK074174;AK226011;AK301229;AK308874;AK310512;AL603832;AL832805;AL833353;AMYH02001746;AX877520;BC002548;BC004499;BC009312;BC025339;BU623853;BX647787;CH471122;DB066263;NM_001130079;NM_001286072;NM_020963;XM_005270868;XM_005270869;XM_005270870;XM_006710644;XR_426608;XR_426609 AAH02548;AAH04499;AAH09312;ABM83114;ABM87844;BAB13457;BAB14514;BAB85000;BAG51905;BAH13436;CAE89762;CAL37885;CAL38554;EAW56528;EAW56529;EAW56530;EAW56531;NP_001123551;NP_001273001;NP_066014;Q9HCE1;XP_005270925;XP_005270926;XP_005270927;XP_006710707 Hs.514941 1672387;1762421;5109707 D1S2002E;SHGC-146252;SHGC-75344 DKFZp667O1423;FLJ32791;KIAA1631;fSAP113;gb110 Mov10, Moloney leukemia virus 10, homolog;OTTHUMP00000013677;OTTHUMP00000013678;OTTHUMP00000013679;OTTHUMP00000013680;functional spliceosome-associated protein 113;moloney leukemia virus 10 protein;putative helicase MOV-10 APPROVED protein-coding ENSG00000155363 HGNC:7200 14732 610742 VALIDATED 6892656 MPC1L mitochondrial pyruvate carrier 1-like INVOLVED IN mitochondrial pyruvate transport (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred) X X X p11.4 44623128 44623698 + 40482818 40483388 + 40623566 40624139 + 16344560 347411 P0DKB6 AA971068;ABBA01046796;AC092473;AMYH02039193;DB337430;NM_001195522 NP_001182451;P0DKB6 Hs.128084 1697782 RH102415 brain protein 44-like protein 2;mitochondrial pyruvate carrier 1-like protein protein-coding HGNC:44205 VALIDATED 1604029 MPC2 mitochondrial pyruvate carrier 2 ENCODES a protein that exhibits pyruvate transmembrane transporter activity (inferred); INVOLVED IN cellular metabolic process (inferred); mitochondrial pyruvate transport (inferred); pyruvate metabolic process (inferred); FOUND IN mitochondrion; nucleus; INTERACTS WITH 5-fluorouracil; aflatoxin B1; copper(2+) sulfate 1 1 1 q24 140996568 141015532 - 167885913 167906307 - 167916675 167937069 - 6480464 11076863;11230166;11256614;12477932;15489334;15489336;16169070;16381901;16710414;19064610;19536175;20876399;20877624;21139048;21890473;22037555;22628558;23933155;24250222;24816145;3022128 25874 O95563;Q5R3B4 ABBA01047239;AK290126;AK311913;AL035304;AL110297;AL554033;AMYH02002095;AX306773;AX306775;BC104157;BC104158;CH471067;CR407632;CR533473;DC374001;FB746595;KF455056;NM_001143674;NM_015415;NR_026550;XM_006711266;Z97876 AAI04158;AAI04159;BAF82815;BAG34854;CAA22909;CAB53738;CAD19060;CAD19061;CAG28560;CAG38504;CAL37963;CAV31074;EAW90813;EAW90814;EAW90815;EAW90816;NP_001137146;NP_056230;O95563;XP_006711329 Hs.517768 1674195;1852140;2154686;2169483 D1S3555;G09946;RH11475;SGC32847 BRP44;DKFZp564B167;MGC125752;MGC125753 OTTHUMP00000032516;OTTHUMP00000032517;OTTHUMP00000032518;brain protein 44 APPROVED protein-coding ENSG00000143158 HGNC:24515 08525 614737 VALIDATED 1317039 MPDU1 mannose-P-dolichol utilization defect 1 This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 17 17 17 p13.1-p12 7513288 7517853 + 7486965 7491530 + 7583647 7588212 + 1298632;1580863;6480464;7240710;8554872 9653160 11042152;11179430;11733556;11733564;12477932;14702039;15231747;15342556;15862967;17207965;17353931;18029348;18676680;19170196;19625176;19692168;19946888;20301507;21139048;21963094;22197929;22363504;22505724;24049095;24250222;24816145;8125298;8663248 9526 B4DLH7;I3L1D2;I3L261;I3L295;I3L405;I3L4E0;I3L4T1;J3KSI4;J3KT75;J3KTK8;J3QQZ4;J3QRD5;J3QS48;J3QW43;O75352 ABBA01054873;AC016876;AF038961;AF059752;AF258568;AK027742;AK055923;AK075299;AK225401;AK225432;AK297001;AK297691;AK300083;AK300140;AK314527;AMYH02032908;BC001898;BG776573;BM127836;BM128375;BP325875;BQ002417;CH471108;CQ783898;DC421138;DQ499597;NG_009204;NM_004870;NR_024603;XM_006721597;XM_006721598;XM_006721599 AAC39875;AAG23771;AAG43121;AAH01898;ABF54968;ADQ33163;BAB55334;BAB71046;BAG37121;BAG52103;BAG59539;BAG60049;BAG61886;BAG61926;CAF86914;EAW90158;EAW90159;EAW90160;EAW90161;EAW90162;EAW90163;NP_004861;O75352;XP_006721660;XP_006721661;XP_006721662 Hs.246381 1665612;1695012;2151291;2187387;2218048;5037552 D8S2279;G44719;SOX15_2765;STS-R55342;WI-15346;WI-22031 CDGIF;FLJ14836;HBEBP2BPA;Lec35;My008;PP3958;PQLC5;SL15 HBeAg-binding protein 2 binding protein A;OTTHUMP00000135286;mannose-P-dolichol utilization defect 1 protein;suppressor of Lec15 and Lec35 glycosylation mutation homolog APPROVED protein-coding ENSG00000129255 HGNC:7207 04951 604041;609180 REVIEWED 1348832 MPE malignant proliferation, eosinophil 4348 HGNC:7209 1312722 MOSPD3 motile sperm domain containing 3 This gene encodes a multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. [provided by RefSeq, Jul 2008] 7 7 7 q22 94939506 94942781 + 100209725 100213003 + 100612102 100615380 + 737633;1582660;1580863;6480464;8554872 12477932;15533722 12690205;15489334;9799793 64598 C9J3M4;F8WF07;O75425 ABBA01013197;AC099394;AMYH02016386;AX405820;BC005042;BC009482;BC011653;BC028475;BG164079;BG707362;BQ923161;CH236956;CH471091;NM_001040097;NM_001040098;NM_001040099;NM_023948;XM_005250529;XM_005250530;XM_005250531 AAH05042;AAH11653;CAD34927;EAL23824;EAW76511;EAW76512;EAW76513;EAW76514;NP_001035186;NP_001035187;NP_001035188;NP_076438;O75425;XP_005250586;XP_005250587;XP_005250588 Hs.521086 1697528;2191567 MARC_26575-26576:1033748265:1;RH102269 CDS3;NET30 OTTHUMP00000215914;OTTHUMP00000215915;OTTHUMP00000215916;OTTHUMP00000215917;motile sperm domain-containing protein 3 APPROVED protein-coding ENSG00000106330 HGNC:25078 12370 609125 REVIEWED 736355 MPEG1 macrophage expressed 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; lead(0); lead(2+) 11 11 11 q12.1 56335080 56339591 - 58975983 58980494 - 59208510 59213021 - 6480464;8554872 12477932;14702039;16344560;23257510;23753625;23898208;7888681 219972 Q2M385 ABBA01021496;AK074166;AK095457;AK097211;AK097881;AMYH02024862;AP002358;AW205154;BC104997;BC112230;CH471076;DA946058;L20314;NM_001039396 AAA36324;AAI04998;AAI12231;BAB84992;BAG53544;EAW73839;NP_001034485;Q2M385 Hs.744920 1650464;1662656;1669563;1782478;2142767;2161091 D11S4376;RH16197;RH17632;SHGC-172487;SHGC-34178;STS-T98251 MGC132657;MGC138435;MPG1;MPS1;Mpg-1 OTTHUMP00000222498;likely ortholog of mouse macrophage expressed gene 1;macrophage expressed gene 1;macrophage gene 1 protein;macrophage-expressed gene 1 protein;partial protein;perforin 2 protein-coding ENSG00000197629 HGNC:29619 610390 VALIDATED 1348242 MPFD myopathy with fiber type disproportion 4349 HGNC:7210 1316939 MPHOSPH10 M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010] 2 2 2 p13.3 71208139 71227923 + 71357444 71377232 + 71130314 71150102 + 1580863;6480464;6907045;8554872 11790298;12429849;12477932;12655004;14702039;15231748;15489334;15635413;16344560;17081983;18029348;19389623;19471022;21693764;21906983;22113938;22586326;22751105;23000965;24457600;24654937;24816145;8885239;9450966 10199 O00566;U3KQ48 ABBA01075549;AC007881;AI056034;AK056862;AK310931;AMYH02004048;BC015158;BC041084;BC126389;CH471053;DA867290;NM_005791;X98494 AAI26390;BAG51817;CAA67120;EAW99776;EAW99777;NP_005782;O00566 Hs.656208 1734822;1757323;5037552 D2S1581E;D8S2279;SHGC-144725 CT90;MPP10;MPP10P;PPP1R106 OTTHUMP00000160129;OTTHUMP00000203603;U3 small nucleolar ribonucleoprotein protein MPP10;m phase phosphoprotein 10 APPROVED protein-coding ENSG00000124383 HGNC:7213 10404 605503 REVIEWED 1320700 MOXD1 monooxygenase, DBH-like 1 ENCODES a protein that exhibits copper ion binding (inferred); oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (inferred); INVOLVED IN oxidation-reduction process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid; arsenite(3-) 6 6 6 q23.2 133364075 133469523 - 132617194 132722664 - 132296055 132401525 - 6480464;8554872 12477932;12975309;15337741;20581860;21890473;21900206;23251661;9751809 26002 A6PVS1;Q6UVY6 ABBA01025880;AI751100;AJ420565;AK074879;AK226054;AL023578;AL080058;AL357034;AMYH02014499;AMYH02014500;AMYH02014501;AY007239;AY359094;BC018756;CH471051;NM_015529;XM_006715456 AAG09636;AAH18756;AAQ89452;ABM83090;ABM86284;BAC11263;CAB45692;EAW48032;EAW48033;EAW48034;NP_056344;Q6UVY6;XP_006715519 Hs.6909 1338633;1644920;1648376;1684848;1723595;1754271;1798546;1799600;1800770;1806214;1807856;1808692;1810806;1811172;1811342;1814170;1814302;1814384;1815358;1815504;1815830;1816866;1817820;1818616;1818840;1819870;1820436;1821234;1822406;1824908;1826720;1827534;1828924;1830412;1832490;1832688;1834846;1836260;1837972;1838116;1838274;1839112;1839872;1842606;1842884;1843320;1845120;1846346;1858664;1920164;1920166;1920168;1920170;1920172;1920174;1920176;1920178;1920180;1920182;1920184;1920186;1920188;1920190;1920192;1920194;1920196;1920198;1920200;1920202;1920204;1920206;1920208;1920210;1920212;1920214;1920216;1920218;1920220;1920222;1920224;1920226;1920228;1920230;1920232;1920234;1920236;1920238;1920240;1920242;1920244;1920246;1920248;1920250;1920252;1920254;1920256;1920258;1920260;1920262;1920264;1920266;1920268;1920270;1920272;1920274;1920276;1920278;1920280;1920282;1920284;1920286;1920288;1920290;1920292;1920294;1920296;1920298;1920300;1920302;1920304;1920306;1920308;1920310;1920312;1920314;1920316;1920318;1920320;1920322;1920324;1920326;1920328;1920330;1920332;1920334;1920336;1920338;1920340;1920342;1920344;1920346;1920348;1920350;1920352;1920354;1920356;1920358;1920360;1920362;1920364;1920366;1920368;1920370;1920372;1920374;1920376;1920378;1920380;1920382;1920384;1920386;1920388;1920390;1920392;1920394;1920396;1920398;1920400;1920402;1920404;1920406;1920408;1920410;1920412;1920414;1920416;1920418;1920420;1920422;1920424;1920426;1920428;1920430;1920432;1920434;1920436;1920438;1920440;1920442;1920444;1920446;1920448;1920450;1920452;1920454;1920456;1920458;1920460;1920462;1920464;1920466;1920468;1920470;1920472;1920474;1920476;1920478;1920480;1920482;1920484;1920486;1920488;1920490;1920492;1920494;1920496;1920498;1920500;1920502;1920504;1920506;1920508;1920510;1920512;1920514;1920516;1920518;1920520;1920522;1920524;1920526;1920528;1920530;1920532;1920534;1920536;1920538;1920540;1920542;1920544;1920546;1920548;1920550;1920552;1920554;1920556;1920558;1920560;1920562;1920564;1920566;1920568;1920570;1920572;1920574;1920576;1920578;1920580;1920582;1920584;1920586;1920588;1920590;1920592;1920594;1920596;1920598;1920600;1920602;1920604;1920606;1920608;1920610;1920612;1920614;1920616;1920618;1920620;1920622;1920624;1920626;1920628;1920630;1920632;1920634;1920636;1920638;1920640;1920642;1920644;1920646;1920648;1920650;1920652;1920654;1920656;1920658;1920660;1920662;1920664;1920666;1920668;1920670;1920672;1920674;1920676;1920678;1920680;1920682;1920684;2206700;2206702;2206704;2206706;2206708;2206710;2206712;2206714;2206716;2206718;2206720;2206722;2206724;2206726;2206728;2206730;2206732;2206734;2206736;2206738;2206740;2206742;2206744;2206746;2206748;2206750;2206752;2206754;2206756;7185676;7186596 D6S413;ECD00112;ECD00652;ECD01247;ECD04062;ECD04903;ECD05328;ECD06401;ECD06584;ECD06669;ECD08114;ECD08180;ECD08221;ECD08715;ECD08788;ECD08955;ECD09479;ECD09964;ECD10372;ECD10484;ECD11005;ECD11293;ECD11694;ECD12291;ECD13553;ECD14474;ECD14883;ECD15589;ECD16340;ECD17384;ECD17485;ECD18572;ECD19291;ECD20157;ECD20230;ECD20311;ECD20735;ECD21119;ECD22510;ECD22649;ECD22868;ECD23777;ECD24393;ECD24533;NIB446;REN30900;REN30901;REN30902;REN30903;REN30904;REN30905;REN30906;REN30907;REN30908;REN30909;REN30910;REN30911;REN30912;REN30913;REN30914;REN30915;REN30916;REN30917;REN30918;REN30919;REN30920;REN30921;REN30922;REN30923;REN30924;REN30925;REN30926;REN30927;REN30928;REN30929;REN30930;REN30931;REN30932;REN30933;REN30934;REN30935;REN30936;REN30937;REN30938;REN30939;REN30940;REN30941;REN30942;REN30943;REN30944;REN30946;REN30947;REN30948;REN30949;REN30951;REN30952;REN30953;REN30954;REN30955;REN30956;REN30957;REN30958;REN30959;REN30960;REN30961;REN30962;REN30963;REN30964;REN30965;REN30966;REN30967;REN30968;REN30969;REN30970;REN30971;REN30972;REN30973;REN30974;REN30975;REN30976;REN30977;REN30978;REN30979;REN30980;REN30981;REN30982;REN30983;REN30984;REN30985;REN30986;REN30987;REN30988;REN30989;REN30990;REN30991;REN30992;REN30993;REN30994;REN30995;REN30996;REN30997;REN30998;REN30999;REN31000;REN31001;REN31002;REN31003;REN31004;REN31005;REN31006;REN31007;REN31008;REN31009;REN31010;REN31011;REN31012;REN31013;REN31014;REN31015;REN31016;REN31017;REN31018;REN31019;REN31020;REN31021;REN31022;REN31023;REN31024;REN31025;REN31026;REN31027;REN31028;REN31029;REN31030;REN31031;REN31032;REN31033;REN31034;REN31035;REN31036;REN31037;REN31038;REN31039;REN31040;REN31041;REN31042;REN31043;REN31044;REN31045;REN31046;REN31047;REN31048;REN31049;REN31050;REN31051;REN31052;REN31053;REN31054;REN31055;REN31056;REN31057;REN31058;REN31059;REN31060;REN31061;REN31062;REN31063;REN31064;REN31065;REN31066;REN31067;REN31068;REN31069;REN31070;REN31071;REN31072;REN31073;REN31074;REN31075;REN31076;REN31077;REN31078;REN31079;REN31080;REN31081;REN31082;REN31083;REN31084;REN31085;REN31086;REN31087;REN31088;REN31089;REN31090;REN31091;REN31092;REN31093;REN31094;REN31095;REN31096;REN31097;REN31098;REN31099;REN31100;REN31101;REN31102;REN31103;REN31104;REN31105;REN31106;REN31107;REN31108;REN31109;REN31110;REN31111;REN31112;REN31113;REN31114;REN31115;REN31116;REN31117;REN31118;REN31119;REN31120;REN31121;REN31122;REN31123;REN31124;REN31125;REN31126;REN31127;REN31128;REN31129;REN31130;REN31131;REN31132;REN31133;REN31134;REN31135;REN31136;REN31137;REN31138;REN31139;REN31140;REN31141;REN31142;REN31143;REN31144;REN31145;REN31146;REN31147;REN31148;REN31150;REN31151;REN31152;REN31153;REN31154;REN31155;REN31156;REN31157;REN31158;REN31159;REN31160;REN31161;REN31162;REN31163;RH119733;RH45731;RH79871;SHGC-132284;stSG626642;stSG626643;stSG626644;stSG626645;stSG626646;stSG626647;stSG626648;stSG626649;stSG626650;stSG626651;stSG626652;stSG626653;stSG626654;stSG626655;stSG626656;stSG626657;stSG626658;stSG626659;stSG626660;stSG626661;stSG626662;stSG626663;stSG626664;stSG626665;stSG626666;stSG626667;stSG626668;stSG626669;stSG626670 DKFZp564G202;MOX;PRO5780;dJ248E1.1 DBH-like monooxygenase protein 1;OTTHUMP00000061520;OTTHUMP00000195175;dopamine-oxygenase;monooxygenase X protein-coding ENSG00000079931 HGNC:21063 10093 609000 VALIDATED 1349436 MPI mannose phosphate isomerase Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 15 15 15 q24.1 52132413 52140533 + 75182377 75190581 + 74890011 74899457 + 1600452;1580863;6480464;6907045;7240710;8554872;8699517 9525984 10980531;11134235;11350186;12122025;1222586;12357336;12414827;12477932;14702039;15489334;16488169;17207965;18029348;20301507;20628624;21139048;21832049;21890473;21949237;22082156;22939629;24407290;341373;8125298;8307007;9451038;9585601 4351 B4DW50;B4DYB8;F5GX71;H3BM77;H3BMZ9;H3BN01;H3BNY8;H3BP57;H3BPB8;H3BPM5;H3BPP3;H3BPU7;H3BQX0;H3BT46;H3BT48;H3BU66;H3BUG1;H3BUZ9;P34949;Q8NHZ6 ABBA01060506;ABBA01060507;AC125435;AF227218;AF504648;AK096520;AK225149;AK292374;AK294030;AK301370;AK302354;AMYH02030800;AW445009;AW813817;BC017351;BC046357;BX648475;CD706167;CH471136;NG_008921;NM_001289155;NM_001289156;NM_001289157;NM_002435;X76057 AAF37697;AAH17351;AAH46357;AAM28199;ADQ33060;BAF85063;BAG57385;BAG62912;BAG63680;CAA53657;EAW99295;EAW99296;EAW99297;EAW99298;NP_001276084;NP_001276085;NP_001276086;NP_002426;P34949 Hs.75694 1673330;1778452;2154016;2159656;2159925;2162321;2173805;2219942;5022651 D11S2921;D15S1167;MPI__6336;RH15703;RH69358;STS-X76057;WI-15741;WI-19219;WI-21454 CDG1B;FLJ39201;PMI;PMI1 OTTHUMP00000183487;mannose-6- phosphate isomerase;mannose-6-phosphate isomerase;phosphohexomutase;phosphomannose isomerase 1 APPROVED protein-coding ENSG00000178802 HGNC:7216 01108 154550;602579 REVIEWED 1321401 MPHOSPH6 M-phase phosphoprotein 6 ENCODES a protein that exhibits RNA binding (inferred); INVOLVED IN maturation of 5.8S rRNA; FOUND IN cytoplasm; exosome (RNase complex); nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; calcitriol 16 16 16 q23.3 66480526 66502591 - 82181767 82203829 - 82148162 82170224 - 1580863;6480464 11719186;12477932;15231747;15489334;15635413;16169070;16396833;17081983;17207965;17412707;18029348;18187620;20379614;20531389;21906983;22939629;23251661;24250222;8125298;8885239 10200 H3BNK8;H3BNT4;H3BSB3;H3BU96;Q99547 ABBA01016950;AC138304;AI831131;AK222667;AK314163;AMYH02032525;AMYH02032526;AW175781;BC005242;BC011020;BC029395;BC031017;BU595100;BU622913;CH471114;NM_005792;X98263 AAH05242;AAH11020;AAH29395;AAH31017;ADQ32393;BAD96387;BAG36847;CAA66916;EAW95516;EAW95517;EAW95518;NP_005783;Q99547 Hs.344400 2191329 MARC_17459-17460:1022851172:1 MPP;MPP-6;MPP6 OTTHUMP00000174980 protein-coding ENSG00000135698 HGNC:7214 16111 605500 VALIDATED 731894 MPG N-methylpurine-DNA glycosylase ENCODES a protein that exhibits alkylbase DNA N-glycosylase activity (inferred); damaged DNA binding (inferred); DNA binding (inferred); INVOLVED IN base-excision repair (inferred); base-excision repair, AP site formation (inferred); depurination (inferred); PARTICIPATES IN base excision repair pathway; FOUND IN mitochondrial nucleoid (inferred); nucleoplasm (inferred); INTERACTS WITH 1H-imidazo[2,1-i]purine; 2,3,7,8-tetrachlorodibenzodioxine; 3-methyladenine 16 16 16 p13.3 328909 337375 + 127018 135850 + 77019 85851 + 1580863;1358139;6480464;6907045 10583946;10854423;11106395;11157797;12014652;12016206;12077143;12477932;12820404;14555760;14567703;14688248;14761949;14761960;15247209;15302935;15489334;15616553;16195237;16341674;1645538;17029639;17353931;18029348;18191412;18270339;18482256;18706524;1874728;18839966;19183483;19219989;19237606;1924375;19616486;19864471;20201599;20226869;20347426;20522537;20574454;20873830;21044950;21063071;21139048;21244040;21349833;21832049;21877721;21890473;21907836;22079122;22148158;22156195;22190034;22496614;22801474;22990118;23000965;23074184;23137018;23290262;23446634;23537643;23688261;23839988;24163370;24250222;24332808;8016081;8318735;8475094;9790531 4350 A2IDA3;P29372;Q1W6H1 ABBA01030394;AE006462;AF499437;AK308654;AL520052;AMYH02031177;AW083039;AY258284;BC014991;BG823448;BM796301;CH471112;DQ431198;L10752;M71215;M74905;M99626;NM_001015052;NM_001015054;NM_002434;S51033;X56528;Z69720 AAA58369;AAA58627;AAB19537;AAB46421;AAF77073;AAH14991;AAK61213;AAM14628;AAP82229;ABD95906;ABM86838;CAA39875;CAA93540;CAI95610;CAM26663;EAW85870;EAW85871;EAW85872;NP_001015052;NP_001015054;NP_002425;P29372 Hs.459596 1748221;1748223;1748225;1748289;1748291;1748293;1759953;1767699;1802860;1804564;1805382;1810488;1811316;1811704;1821940;1823054;1827320;1833196;2046928;2046930;2046932;2046934;2046936;2046938;2046940;2046942;2046944;2046946;2046948;2046950;2046952;2046954;2046956;2046958;2046960;2046962;2046964;2046966;2046968;2046970;2046972;2046974;2046976;2046978;2046980;2046982;2046984;2046986;2046988;2046990;2046992;2046994;2046996;2046998;2047000;2047002;2047004;2047006;2047008;2047010;2047012;2104362;2104364;2104366;2104368;2104370;2104372;2182018 ECD02318;ECD03213;ECD03638;ECD06237;ECD06656;ECD06856;ECD12056;ECD12615;ECD14775;ECD17740;G66700;G66701;G66702;G66703;G66706;G66708;REN94593;REN94594;REN94595;REN94596;REN94597;REN94598;REN94599;REN94600;REN94601;REN94602;REN94603;REN94604;REN94605;REN94606;REN94607;REN94608;REN94609;REN94610;REN94611;REN94612;REN94613;REN94614;REN94615;REN94616;REN94617;REN94618;REN94619;REN94621;REN94622;REN94623;REN94624;REN94625;REN94626;REN94627;REN94628;REN94629;REN94630;REN94631;REN94632;REN94633;REN94634;REN94635;REN94636;RH78394;SHGC-30625;SHGC-60793;stSG608848;stSG608849;stSG608851;stSG608853;stSG608854;stSG608855 AAG;ADPG;APNG;CRA36.1;MDG;Mid1;PIG11;PIG16;anpg 3' end of the Mid1 gene, localized 68 kb upstream the humanzeta globin gene on 16p;3-alkyladenine DNA glycosylase;3-methyladenine DNA glycosidase;CRA36.1 (3-methyl-adenine DNA glycosylase);DNA-3-methyladenine glycosylase;N-methylpurine-DNA glycosylase, MPG;OTTHUMP00000045554;OTTHUMP00000067137;OTTHUMP00000194908;alkyladenine DNA glycosylase;proliferation-inducing protein 11;proliferation-inducing protein 16 protein-coding ENSG00000103152 HGNC:7211 06766 156565 VALIDATED 1603305 MPHOSPH8 M-phase phosphoprotein 8 ENCODES a protein that exhibits methylated histone binding; INVOLVED IN negative regulation of transcription, DNA-templated; regulation of DNA methylation; FOUND IN cytoplasm; extracellular vesicular exosome; nuclear heterochromatin; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 13 13 13 q12.11 1269626 1309437 + 20207787 20247599 + 19633647 19673459 + 6480464 12477932;12559565;14702039;15057823;15489334;16344560;16583711;17081983;18029348;18654987;19471022;20871592;21419134;21890473;22022377;22086334;23416073;23532874;24457600;8885239 54737 H0Y6J1;Q99549 ABBA01068556;ABBA01068557;ABBA01068558;AJ293409;AK056785;AK092556;AK300258;AL354808;AL359457;AL832864;AMYH02027617;BC003542;BC017322;BC046214;CH471075;DA672302;NM_017520;R60056;X98259;XM_005266435;XM_005266436;XR_245390 AAH03542;AAH46214;BAB71284;BAG52572;BAH13245;CAA66912;CAI46172;EAX08228;EAX08229;EAX08230;NP_059990;Q99549;XP_005266492;XP_005266493 Hs.269654 1679940;1700628;1709030;1737389;1739253;1856424;2111011;2161641;2168832;2168834;2186481;5014019;5015861;5022322;5037552;5109281;7185938 A001U40;D10S16;D11S2560;D13S1119;D13S236E;D13S971;D1S1425;D5S2354;D8S2279;G19671;RH103936;RH66674;RH79712;SHGC-79586;STS-AA029981;STS-N29491 FLJ35237;HSMPP8;RP11-523H24.1;TWA3;mpp8 M-phase phosphoprotein, mpp;M-phase phosphoprotein, mpp8;OTTHUMP00000018074;two hybrid-associated protein 3 with RanBPM protein-coding ENSG00000196199 HGNC:29810 13682 611626 VALIDATED 1605915 MPND MPN domain containing ENCODES a protein that exhibits peptidase activity (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene 19 19 19 p13.3 4281776 4298329 + 4343524 4360083 + 4343527 4360086 + 6480464 12477932;19615732 84954 M0QXC4;M0QXK5;M0R044;M0R0F2;M0R189;Q8N594;W4VSR2 ABBA01056076;ABBA01056077;AC007292;AI927937;AK027887;AK308468;AMYH02035283;AMYH02035284;BC032652;BE328551;BG696748;BP266054;BU150675;BX462788;CH471139;CR977937;NM_001159846;NM_001300862;NM_032868;XM_005259663;XM_006722926 AAD24592;AAD24593;AAH32652;BAB55432;EAW69230;EAW69231;EAW69232;EAW69233;NP_001153318;NP_001287791;NP_116257;Q8N594;XP_005259720;XP_006722989 Hs.321689 FLJ14981 MPN domain-containing protein protein-coding ENSG00000008382 HGNC:25934 07873 VALIDATED 1313543 MPHOSPH9 M-phase phosphoprotein 9 ASSOCIATED WITH Multiple Sclerosis; FOUND IN centriole; centrosome; cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one 12 12 12 q24.31 123232534 123298019 - 123640943 123717785 - 123155212 123233238 - 1580863;2316985;6480464;8554872 19879194 12477932;14702039;16344560;18029348;19525953;19615732;19850743;19913121;19946888;20309963;20546594;20628086;20936779;23974872;24130709;24255178;24816145;8885239 10198 F5GYG6;F5GYP5;F5GZJ0;F5H1U6;F5H1W2;F5H2G0;F5H2I5;F5H4J0;F5H798;H0YFS3;H0YG46;J3KNE4;Q99550;U3KQ61;U3KQD6;U3KQJ0 ABBA01060431;ABBA01060432;ABBA01060433;ABBA01060434;AC073857;AK023016;AK091181;AK096541;AL096751;AMYH02027447;AMYH02027448;AMYH02027449;AMYH02027450;AMYH02027451;BC130440;BC144016;BC144017;BF793354;BU070541;BX092492;CH471054;CX782912;DB071469;DB111293;NM_022782;NR_103517;X98258;XM_006719187;XM_006719188;XM_006719189;XM_006719190;XM_006719191;XM_006719192;XR_429068;XR_429069;XR_429070 AAI30441;BAB14359;BAG52299;CAA66911;EAW98388;EAW98389;EAW98390;EAW98391;EAW98392;EAW98393;EAW98394;NP_073619;Q99550;XP_006719250;XP_006719251;XP_006719252;XP_006719253;XP_006719254;XP_006719255 Hs.577404;Hs.735822 1686895;1846698;2108829;2166594;2186637 MPHOSPH9_9059;RH98455;STS-N23129;STS-X98258;WI-17926 DKFZp434J034;FLJ12954;MPP-9;MPP9 OTTHUMP00000239617;OTTHUMP00000239619;OTTHUMP00000239621 protein-coding HGNC:7215 12022 605501 VALIDATED 737285 MPDZ multiple PDZ domain protein ENCODES a protein that exhibits protein C-terminus binding; INVOLVED IN cell adhesion (inferred); myelination (inferred); viral process (inferred); ASSOCIATED WITH Autosomal recessive inheritance (inferred); Congenital onset (inferred); HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 (inferred); FOUND IN apicolateral plasma membrane; cytoplasm; INTERACTS WITH cobalt dichloride; copper(2+) sulfate; cyclosporin A 9 9 9 p23 13038280 13183037 - 13105700 13279660 - 13105701 13279663 - 1580863;6480464;8699517;7240710;8554872 10967549;11000240;11018522;11150294;11358867;11689568;11802782;12403818;12477932;14499480;14702039;15164053;15312654;15316081;15364909;16192269;16452527;16678097;17081983;17672918;18378672;18854154;19071123;19175764;19255144;19420109;19483657;19615732;19874574;19913121;20628086;21145499;21762291;21890473;22053931;23240096;23291589;23880463;24255178;24550385;9537516 8777 B3KQC9;B7ZB24;F5H1U9;F5H8D6;F8WDQ8;H0YF96;H0YFZ6;H0YGQ3;H0YH70;H3BM19;O75970 AB210041;ABBA01065314;AF093419;AJ001319;AK058011;AK074721;AK091945;AK098775;AK294823;AK294976;AK307924;AK307988;AK316489;AL161449;AL162386;AL353639;AMYH02019177;AMYH02019178;AMYH02019179;AMYH02019180;AMYH02019181;AMYH02019182;BC140793;BC144564;BU621500;CH471071;CR936648;CX782625;KF458899;KF458902;NM_001261406;NM_001261407;NM_003829;XM_005251622;XM_005251623;XM_006716885;XM_006716886;XM_006716887;XM_006716888;XM_006716889;XM_006716890;XM_006716891;XM_006716892 AAC61870;AAI40794;AAI44565;AAI72387;BAC05409;BAE06123;BAG51991;BAG52447;BAG57936;BAG58047;BAH14860;CAA04680;CAI56786;EAW58704;EAW58705;EAW58706;NP_001248335;NP_001248336;NP_003820;O75970;XP_005251679;XP_005251680;XP_006716948;XP_006716949;XP_006716950;XP_006716951;XP_006716952;XP_006716953;XP_006716954;XP_006716955 Hs.169378 1680483;1760179;1787090;2108263;2128896;2128898;2137005;2161238;2161240 A005N27;D9S1039E;G20352;MPDZ_8854;RH47575;RH93917;SHGC-132458;SHGC-155018;SHGC-32204 DKFZp781P216;FLJ25909;FLJ34626;FLJ90240;HYC2;MUPP1 OTTHUMP00000022777;OTTHUMP00000239454;OTTHUMP00000239514;OTTHUMP00000239515;OTTHUMP00000239517;multi-PDZ domain protein 1 protein-coding ENSG00000107186 HGNC:7208 09155 603785;615219 VALIDATED 1344320 MPLKIP M-phase specific PLK1 interacting protein The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009] 7 7 7 p14.1 40160532 40162441 - 40172342 40174251 - 40132743 40134652 - 6480464;7240710;8554872;8699517 11829489;12477932;12690205;15489334;15645389;16964243;16977596;17081983;17207965;17310276;22939629 136647 A4D1W6;Q8TAP9 ABBA01058154;AC006023;AK290098;AMYH02015574;AX048113;BC026265;BG501110;CH236951;CH471073;NG_016989;NG_023422;NM_138701 AAH26265;ADQ32251;BAF82787;EAL23999;EAW94134;NP_619646;Q8TAP9 Hs.654989 1661748 RH69674 ABHS;C7orf11;ORF20;TTDN1 M-phase-specific PLK1-interacting protein;OTTHUMP00000159010;Russell-Silver syndrome region;TTD non-photosensitive 1 protein APPROVED protein-coding HGNC:16002 12907 234050;609188 REVIEWED 733195 MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q33.2 196261499 196315217 - 202509597 202563467 - 201644874 201698694 - 1580863;6480464 11414766;11586298;12384283;12477932;14702039;15558731;15914641;17286855;19807924;20379614 58538 E7ET46;E7EUL8;E9PG92;F6Q0Y6;F8WBH8;F8WDZ0;Q96JB8;R4GN59 AB053302;AB053303;AB053304;ABBA01062545;AC007279;AF316032;AK131208;AK298589;AK298947;AK300622;AMYH02005550;BC132785;BC144206;BM999928;BX647162;BX648531;CH471063;DQ426883;NG_012654;NM_033066;XM_005246732;XM_005246733;XM_005246734;XM_005246735;XM_005246736;XR_241314 AAI32786;AAI44207;AAK71862;AAY15057;BAB69012;BAB69013;BAD18399;BAG60779;BAG61046;BAG62315;EAW70285;EAW70286;EAW70287;EAW70288;EAW70289;EAW70290;NP_149055;Q96JB8;XP_005246789;XP_005246790;XP_005246791;XP_005246792;XP_005246793 Hs.63085 1668618;1684008;1686574;1728833;1789120;5021872;5022450;5037552 D10S275;D8S2279;G54443;G65696;RH79562;RH79761;STS-AA015930;sY3084 ALS2CR5;DLG6 MAGUK p55 subfamily member 4;OTTHUMP00000205919;OTTHUMP00000205920;OTTHUMP00000205933;OTTHUMP00000209441;OTTHUMP00000209442;OTTHUMP00000209443;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein;discs large homolog 6;discs, large homolog 6 APPROVED protein-coding ENSG00000082126 HGNC:13680 07360 606575 REVIEWED 1322330 MPL MPL proto-oncogene, thrombopoietin receptor In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008] 1 1 1 p34 42085625 42102280 + 43803475 43820135 + 43337804 43354464 + 1600454;1580863;6480464;6907045;7240710;8554872;8699517 10077649 10224114;10391209;10517496;10918061;10971406;10979953;11054408;11071383;11133753;11784712;11961237;12010817;12091373;12145691;12200367;14764528;14995067;15210714;15269348;15307100;15452260;15647951;15741216;15899890;15951300;16088917;1608974;16454716;16470591;16834459;16868251;17052978;17107350;17157161;17379761;17408398;17408465;17507998;17540852;17644747;17658515;17666371;17709604;17920754;17920755;17956691;18029348;18040685;18174381;18250227;18295514;18297515;18422784;18451306;18464114;18487512;18519816;18528423;18566540;18669880;18687690;18754026;19029146;19036112;19097174;19099657;19175989;19194467;19196872;19261614;19274616;19302922;19341705;19351817;19372714;19469654;19483125;19521067;19560457;19608689;19643476;19713221;19728022;19996410;20111067;20113333;20113830;20151976;20166549;20232601;20304805;20331763;20410924;20485371;20508616;20520633;20529857;20823136;20890078;21051030;21174945;21225925;21228032;21326037;21402716;21489838;21555228;21570117;21605620;21674576;21691276;2175677;21841770;21858098;21892137;22093990;22102270;22180433;22290824;22337712;22338178;22378845;22565617;22613795;22649097;23351976;23359689;23441089;23511495;23575445;23747337;23824909;23908116;23986553;24043765;24250222;24402162;2550356;7534285;8020956;8202154;8541543;8639837;9122198;9766811 4352 P40238;Q5JUY5 ABBA01050957;ABBA01050958;AL139289;AMYH02000897;AMYH02000898;CH471059;DQ234353;KF964490;M90102;M90103;NG_007525;NM_005373;U68159;U68160;U68161;U68162 AAA69971;AAA69972;AAB08424;AAB08425;AAI40299;AAI53093;ABB29982;AHL44293;EAX07103;EAX07104;EAX07105;NP_005364;P40238 Hs.82906 1681292;1792728;1792730;1792732;1792734;1792736;2155983;2191653;5014023 D13S1553;MARC_4067-4068:996679330:1;PMC15907P1;PMC15907P2;PMC15907P3;PMC15907P4;PMC15907P5;RH80231;SHGC-74727 C-MPL;CD110;MPLV;THCYT2;TPO-R;TPOR OTTHUMP00000008582;OTTHUMP00000008583;myeloproliferative leukemia protein;myeloproliferative leukemia virus oncogene;proto-oncogene c-Mpl;thrombopoietin receptor APPROVED protein-coding HGNC:7217 01161 159530;254450;601977;604498 REVIEWED 1317631 MPP5 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 14 14 14 q23.3 47767078 47861589 + 67708012 67802778 + 67241295 67336061 + 1580863;6480464 10753959;11076863;11230166;11256614;11311936;11927608;12477932;12527193;12545177;12771187;14702039;15475968;15489334;15489336;15558731;15863617;15914641;16344560;16381901;16678097;16737952;17332497;17584769;17920587;18029348;19056867;19615732;20237282;20833712;20861307;21139048;21145499;21479189;22102253;22114289;22337881;22797925;23718855;24255178;24550385;8619474;9110174 64398 G3V2B0;G3V2H1;Q658X5;Q8N3R9 ABBA01023713;ABBA01023714;ABBA01023715;ABBA01023716;ABBA01023717;AF131764;AI245706;AK022677;AK098373;AK291240;AL135978;AL139785;AL832326;AL832578;AL832936;AMYH02029395;AMYH02029396;AMYH02029397;AMYH02029398;AMYH02029399;AX347648;AX347650;BC037966;BC053366;BC095485;BC129933;CH471061;DA095710;DR003886;NM_001256550;NM_022474;XM_005268003 AAH53366;AAH95485;AAI29934;BAB14172;BAC05295;BAF83929;CAD22414;CAD22415;CAD38620;CAD89937;CAH56281;CAL37477;CAL37737;EAW80930;NP_001243479;NP_071919;Q8N3R9;XP_005268060 Hs.652312;Hs.740524 1669630;1700866;1718575;1752057;1777429;1848508;2149796;2168438;2175202 A004Z21;C013YC9;G35782;RH104059;RH122492;RH46030;RH69567;SHGC-106011;WI-18606 FLJ12615;PALS1 MAGUK p55 subfamily member 5;OTTHUMP00000245540;OTTHUMP00000245542;protein associated with lin seven 1;stardust APPROVED protein-coding ENSG00000072415 HGNC:18669 09508 606958 VALIDATED 1346384 MPO myeloperoxidase Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of netrophils. [provided by RefSeq, Jul 2008] 17 17 17 q23.1 52808995 52820066 - 56347217 56358296 - 58269856 58280935 - 1358499;1580863;2317406;2317971;5130962;5130969;5130958;5130961;5130966;5130968;5130992;5130991;5130995;5130993;5130997;5130207;5130989;5130994;5130986;5130990;5131088;6480464;6484113;6909167;6909168;6909148;7174700;6909183;6909185;7174702;7174701;6909182;6909184;7174699;7174703;6909169;6909170;7174698;7174705;6909173;7174704;7240710;8554872;8699517;9479152 10731862;10742562;10917466;11269653;11577999;11798689;12694338;14580687;15718477;16883063;17267745;17643278;17896805;18022927;18055546;18205184;18424617;18436980;19238910;19418724;19483113;19491038;19544176;19549002;19793022;20638167;20722568;20950601;20954832;21071471;21226709;21470877;22092133;22356815;22739978;22950848;22986158;23085883;7841728 10766826;10772654;10777476;10801811;10828600;11087769;11090610;11147929;11161635;11179831;11423389;11434421;11705390;11774269;11794452;11811524;11813987;11840286;11861298;11895912;11907569;11943609;11956078;11960308;11981455;11986950;12027420;12052532;12057865;12089442;12111688;12135010;12164325;12209361;12355548;12393699;12397651;12432558;12460800;12477932;12496042;12496043;12515618;12565898;12606047;12707270;12729191;12773517;12782337;12792137;12800195;12810834;12818404;12861032;12915675;12946561;12950060;12952835;12969520;1320128;1334087;14617020;14626895;14646692;14668325;14716779;14729580;14730210;14761515;14972011;15006595;15023809;15031357;15068388;15108282;15159316;15184258;15196853;15199549;15203186;15222689;15255951;15299090;15304260;15331175;15350145;15379210;15492293;15504976;15507752;15507753;15507754;15507759;15507760;15507769;15507770;15507771;15536330;15538122;15600254;15661916;15705913;15714076;15734083;15829318;15850382;15884126;15885363;15894800;15901995;15911707;15967795;15996936;16084535;16107886;16148002;16157195;16170238;16195240;16221222;16267254;16289072;16297214;16326702;16335952;16385446;16430221;16476719;16484808;16497665;16504169;16543247;16606792;16641309;16732739;16740002;16758302;16829688;16844322;16901848;16956579;17017121;1703177;17042493;17119198;17145829;17149600;17159117;17161406;17178637;17209550;17259657;17304047;17337886;17355643;17381162;17424838;17428572;17438335;17440118;17451207;17479404;17483704;17521322;17549373;17582430;17595772;17601350;17613595;17650507;17701359;17704068;17726014;17767014;17855424;17869258;17875305;17885617;17922231;17925548;17980933;18042261;18051367;18177875;18214807;18237195;18258609;18271379;18273043;18280811;18296681;18314009;18322643;18331758;18340529;18344624;18359301;18435917;18440308;18441517;18447907;18452102;18466756;18505072;18617697;18632753;18636124;18642288;18662591;18667997;18676680;18676870;18778866;18784359;18836923;18854777;18930040;18976975;18977241;19012698;19030913;19031316;19056867;19059911;19081093;19126404;19129321;19138806;19140875;19147137;19162321;19170196;19201174;19237222;19255063;19255975;19322015;19339270;19345674;19362143;19410253;19420105;19423521;19423540;19479063;19490915;19505917;19524564;19538950;19543083;19556446;19578796;19589271;19593802;19608745;19614918;19622717;19625176;19626395;19641039;19646343;19651119;19651670;19692168;19726691;19729473;19729601;19731237;19735726;19752340;19758957;19761988;19788922;19789190;19814685;19816870;19822138;19828014;19857655;19857676;19877306;19878569;19897513;19902075;19913121;19916937;19963114;19995403;20007081;20026093;20032816;20043647;20064972;20080069;20091863;20136960;20146436;20158910;20201999;20228064;20237496;20301340;20305551;20332087;20332596;20360068;20364045;20364135;20399194;20406964;20413430;20418356;20437850;20438785;20485444;20536280;20568015;20592714;20598694;20628086;20636397;20643115;20644561;20646231;20651370;20663217;20673159;20673504;20677014;20714866;20732340;20848159;20933108;20951227;20974672;20974816;21126969;21176345;21204009;21292302;21327394;21331575;21407237;21461569;21540635;2154223;21657847;21674360;21699462;21739466;21779191;21792769;21795425;21827295;21856025;21880315;21880720;21884783;21907168;21917261;21934609;21950958;21967851;22014237;22094928;22097722;22126566;22140557;22145905;22219194;22264587;22331023;22352991;22355012;22427832;22462773;22465269;22659527;22703762;22802447;22902565;22912422;22949765;22959522;22985908;23016839;23059132;23066164;23124356;23167629;23260186;23268804;23306200;23342893;23364307;23384293;23436245;23532856;23535901;23537682;23583798;23620142;23624305;23666398;23691142;23707661;23734221;23746122;23773345;23832536;23840365;23893381;23908111;23943392;23943394;23979979;23991124;24035742;24036021;24083736;24267244;24267251;24271323;24291125;24291281;24340057;24385592;24391750;24436331;2444596;24457336;24530881;24567965;24713525;24851620;25002508;2552418;2820530;2829220;2884926;2903767;2981589;3029127;3031585;3654979;7530510;7809065;7840679;7904599;8037771;8078496;8142659;8383257;8390465;8530055;8621627;8718890;9097926;9175709;9354683;9637725 4353 J3QSF7;P05164 A08802;ABBA01041329;ABBA01041330;AC004687;AMYH02033687;BC130476;CH471109;D14466;DQ088846;FB659828;FB659830;J02694;M17176;M19507;M19508;NG_009629;NM_000250;S56200;X04876;X15377;X64647;Z37728 AAA59863;AAA59864;AAA59865;AAA59896;AAA60346;AAB25582;AAI30477;AAY68218;ADR83396;BAA03362;CAA00809;CAA28564;CAA28565;CAA33438;CAA45918;CAA85783;CAS01769;CAS01770;EAW94470;EAW94471;EAW94472;EAW94473;NP_000241;P05164 Hs.458272 1648192;1741201;1741371;1742099;1742299;1850553;1850815;2130142 D17S1716;D17S1975;GDB:178575;GDB:180938;GDB:191092;GDB:196134;RH45018;STS-M19507 APPROVED protein-coding ENSG00000005381 HGNC:7218 06102 104300;254600;606989 REVIEWED 1344792 MPP7 membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) Membrane-associated guanylate kinases (MAGUKs) are important adaptor proteins involved in the assembly of protein complexes at sites of cell-cell contact. They are found in synapses, adherens junctions, and tight junctions. All MAGUKs contain at least 1 PDZ domain, an SH3 domain, and a GUK domain, and many contain 1 or 2 L27 domains, which are involved in multimerization of MAGUKs. MPP7 belongs to the p55 stardust subfamily of MAGUKs, which is named for a Drosophila gene required for establishment of cell polarity in the developing fly embryo (Bohl et al., 2007 [PubMed 17237226]).[supplied by OMIM, Mar 2008] 10 10 10 p12.1 28103324 28334425 - 28339922 28591953 - 28050993 28303024 - 737633;6480464;8554872 12477932 14702039;14719143;16385451;16678097;17237226;17332497;19615732;20379614;20702775;21116278;21139048;21145499;21890473;21906983;22005930;22171069;22504420;23000965;23251661;24249740;24255178 143098 B3KQ45;Q5T2T1;S4R337;U5GXS2 ABBA01034380;AC022021;AK057360;AK130972;AK301592;AK315046;AL355501;AL390866;AL391423;AL832380;AMYH02022524;AMYH02022525;AMYH02022526;AMYH02022527;BC038105;CH471072;NM_173496;XM_005252367;XM_005252368;XM_005252369 AAH38105;BAG37526;BAG51907;BAG63081;EAW86045;EAW86046;EAW86047;NP_775767;Q5T2T1;XP_005252424;XP_005252425;XP_005252426 Hs.499159 1339894;1668834;1709324;1709376;1718155;1725307;2176677;5022786;5096037;7187443 D10S588;MPP7;RH118971;RH122845;SHGC-33447;SHGC-81652;SHGC-81705;STS-H72934;STS-H97962 FLJ32798;RP11-218D6.5 MAGUK p55 subfamily member 7;OTTHUMP00000019377;OTTHUMP00000019378 APPROVED protein-coding ENSG00000150054 HGNC:26542 14733 610973 VALIDATED 1319383 MPPE1 metallophosphoesterase 1 ENCODES a protein that exhibits GPI anchor binding (ortholog); manganese ion binding (ortholog); phosphoric diester hydrolase activity (ortholog); INVOLVED IN ER to Golgi vesicle-mediated transport (ortholog); GPI anchor biosynthetic process (ortholog); FOUND IN cis-Golgi network (ortholog); endoplasmic reticulum exit site (ortholog); endoplasmic reticulum-Golgi intermediate compartment (ortholog); INTERACTS WITH copper(2+) sulfate; cyclosporin A; methyl methanesulfonate 18 18 18 p11.21 11764340 11789530 - 11883470 11908796 - 11883471 11908797 - 6480464 11978971;12477932;14702039;15252450;16344560;19328558;19837036;19859903;21890473;8125298 65258 K7EIQ0;K7EJU0;K7ELZ7;K7EM03;K7EQ70;K7EQ74;K7EQV4;K7ER13;K7ERI3;K7ES91;K7ESB8;Q53F39 ABBA01074002;ABBA01074003;ABBA01074004;AF289560;AF363483;AF363484;AK021647;AK023052;AK054639;AK223450;AK309948;AL833636;AMYH02034318;AP001269;AW663162;AX775853;BC002877;BC073994;BG701552;CH471113;CR738004;DA581276;DB035278;DQ786245;EF444996;NM_001242904;NM_023075;NR_040241;NR_040242;NR_040243;XM_006722340;XM_006722341;XM_006722342;XM_006722343;XM_006722344;XM_006722345;XM_006722346;XM_006722347;XM_006722348;XM_006722349 AAH02877;AAH73994;AAL55744;AAM00277;AAM00278;AAM00279;ACA06017;ACA06018;ACA06019;BAB13863;BAB14378;BAD97170;BAG51403;CAE11626;EAX01561;EAX01562;EAX01563;EAX01564;EAX01565;EAX01566;EAX01567;EAX01568;EAX01569;EAX01570;EAX01571;EAX01572;NP_001229833;NP_075563;Q53F39;XP_006722403;XP_006722404;XP_006722405;XP_006722406;XP_006722407;XP_006722408;XP_006722409;XP_006722410;XP_006722411;XP_006722412 Hs.712666;Hs.734268 1857931;2132125;2152345;2154956;2159945;2176621;5020948 D18S1193;D18S982;G35510;RH68711;STS-N37055;WI-15313;WI-20459 PGAP5 OTTHUMP00000162437;OTTHUMP00000162438;OTTHUMP00000162439;metallo phosphoesterase;post-GPI attachment to proteins factor 5 protein-coding ENSG00000154889 HGNC:15988 14734 611900 VALIDATED 1343815 MPP3 membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38586168 38618558 - 41878167 41910547 - 43800799 43833179 - 1580863;6480464;8554872 11707406;12477932;12493773;13679854;15123239;16169070;16344560;16519681;17669239;21832049;21988832;23011156;23602568;24097068;24513266;8824795 4356 D3DX46;K7EPM7;Q13368 AB209232;ABBA01028399;ABBA01028400;AC003098;AK299535;AK309045;AK311368;AK313045;AM050144;AM050145;AMYH02033463;AMYH02033464;BC025743;BC035833;BC047017;BC056865;CH471178;DA585178;DA773958;DB357996;NM_001932;NR_003562;U37707;XM_006721915;XM_006721916;XM_006721917;XM_006721918;XM_006721919;XR_429893;XR_429894 AAB36964;AAH47017;AAH56865;BAD92469;BAG35877;BAG61482;CAJ18313;CAJ18315;EAW51661;EAW51662;EAW51663;EAW51664;EAW51665;EAW51666;NP_001923;Q13368;XP_006721978;XP_006721979;XP_006721980;XP_006721981;XP_006721982 Hs.396566 1789306;2146918;2174344;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;G67871;RH70618;SGC35657 DLG3 MAGUK p55 subfamily member 3;OTTHUMP00000165325;OTTHUMP00000165326;discs large homolog 3;discs, large homolog 3;membrane protein palmitoylated 3 APPROVED protein-coding ENSG00000161647 HGNC:7221 03069 601114 REVIEWED 1347904 MPP1 membrane protein, palmitoylated 1, 55kDa This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] X X X q28 154165522 154192359 - 154006959 154033802 - 154778684 154805527 - 1580863;6480464;8554872 11256614;12477932;1301163;1310897;14702039;15123239;15231747;15489334;15952887;16169070;16189514;16344560;16741958;1713685;17584769;18952129;19144871;19738201;19946888;21139048;21509594;21900206;21903422;22496366;22505724;23263863;23446634;23507198;24816145;7822301;8125298;8824805;9305870 4354 A6NFY0;A8MTH1;B4E325;C9J9J4;C9JB34;F8WC84;F8WDV6;Q00013 ABBA01029082;ABBA01029083;ABBA01029084;ABBA01029085;ABBA01029086;AC109993;AK093702;AK223396;AK290246;AK303111;AK304538;AK310681;AK311541;AK312296;AK315957;AMYH02040858;AMYH02040859;AY423731;AY634686;BC002392;CH471172;DA074686;M64925;M87059;NG_015873;NM_001166460;NM_001166461;NM_001166462;NM_002436;U39611 AAA60059;AAA60060;AAD14835;AAH02392;AAS00494;AAV35469;ABM82173;ABM85498;BAD97116;BAF82935;BAG35223;BAG64217;BAG65337;BAH14328;EAW72655;EAW72656;EAW72657;EAW72658;EAW72659;EAW72660;NP_001159932;NP_001159933;NP_001159934;NP_002427;Q00013 Hs.496984 1723687;1734892;1795172;1798372;1800088;1804200;1804240;1805374;1810832;1815616;1816284;1816460;1816462;1816696;1818874;1820122;1820406;1821450;1825128;1826076;1828366;1831378;1832666;1835034;1835482;1835736;1837764;1838204;1842724;1843534;1845698;2039242;2039244;2039246;2039248;2039250;2039252;2039254;2039256;2039258;2039260;2039262;2039264;2039266;2039268;2039270;2039272;2039274;2039276;2039278;2039280;2039282;2039284;2039286;2039288;2039290;2039292;2039294;2039296;2039298;2039300;2039302;2039304;2039306;2039308;2039310;2039312;2039314;2039316;2039318;2039320;2039322;2039324;2039326;2039328;2039330;2039332;2039334;2039336;2039338;2039340;2039342;2039344;2039346;2039348;2039350;2039352;2039354;2039356;2039358;2039360;2039362;2039364;2039366;2039368;2039370;2039372;2039374;2039376;2039378;2039380;2039382;2039384;2039386;2039388;2039390;2039392;2039394;2039396;2039398;2039400;2039402;2039404;2039406;2039408;2039410;2039412;2039414;2039416;2039418;2039420;2039422;2039424;2039426;2039428;2039430;2039432;2039434;2039436;2039438;2039440;2039442;2039444;2039446;2039448;2039450;2039452;2039454;2039456;2039458;2039460;2039462;2039464;2039466;2039468;2039470;2039472;2039474;2039476;2039478;2039480;2039482;2039484;2039486;2039488;2039490;2039492;2039494;2039496;2039498;2102910;2102912;2102914;2102916;2102918;2102920;2102922;2102924;2102926;2102928;2102930;2102932;2102934;2102936;2102938;2102940;2102942;2102944;2102946;2142609;2180454;2182496;2183528;2219944 D1S1800E;DXS7022E;DXS9740;ECD00022;ECD00900;ECD03021;ECD03044;ECD03634;ECD06414;ECD08845;ECD09184;ECD09272;ECD09273;ECD09391;ECD10501;ECD11134;ECD11278;ECD11809;ECD13665;ECD14147;ECD15309;ECD16825;ECD17474;ECD18670;ECD18897;ECD19028;ECD20052;ECD20274;ECD22569;ECD22976;ECD24067;HSC269_(M1);MPP1__6146;REN90642;REN90643;REN90644;REN90645;REN90646;REN90647;REN90648;REN90649;REN90650;REN90651;REN90652;REN90653;REN90654;REN90655;REN90656;REN90657;REN90658;REN90659;REN90660;REN90661;REN90662;REN90663;REN90664;REN90665;REN90666;REN90667;REN90668;REN90669;REN90670;REN90671;REN90672;REN90673;REN90674;REN90675;REN90676;REN90677;REN90678;REN90679;REN90680;REN90681;REN90682;REN90683;REN90684;REN90685;REN90686;REN90687;REN90688;REN90689;REN90690;REN90691;REN90692;REN90693;REN90694;REN90695;REN90696;REN90697;REN90698;REN90699;REN90700;REN90701;REN90702;REN90703;REN90704;REN90705;REN90706;REN90707;REN90708;REN90709;REN90710;REN90711;REN90712;REN90713;REN90714;REN90715;REN90716;REN90717;REN90718;REN90719;REN90720;REN90721;REN90722;REN90723;REN90724;REN90725;REN90726;REN90727;REN90728;REN90729;REN90730;REN90731;REN90732;REN90733;REN90734;REN90735;REN90736;REN90737;REN90738;REN90739;REN90740;REN90741;REN90742;REN90743;REN90744;REN90745;REN90746;REN90747;REN90748;REN90749;REN90750;REN90751;REN90752;REN90753;REN90754;REN90755;REN90756;REN90757;REN90758;REN90759;REN90760;REN90761;REN90762;REN90763;REN90764;REN90765;REN90766;REN90767;REN90768;REN90769;REN90770;RH123086;STS-M64925;UniSTS:68640;stSG604287;stSG604288;stSG604289;stSG604291;stSG604292;stSG604293;stSG604294;stSG604295;stSG604296;stSG604297;stSG604298;stSG604299;stSG604300;stSG604301;stSG604302;stSG604303;stSG604304;stSG604305;stSG604306 AAG12;DXS552;DXS552E;EMP55;MRG1;PEMP;p55 55 kDa erythrocyte membrane protein;OTTHUMP00000026054;OTTHUMP00000196176;aging-associated gene 12;erythrocyte membrane protein p55;migration-related gene 1;palmitoylated erythrocyte membrane protein APPROVED protein-coding ENSG00000130830 HGNC:7219 02370 305360 REVIEWED 1344313 MPPE1P1 metallophosphoesterase 1 pseudogene 1 14 14 14 q31.3 69624561 69625676 - 89576452 89577567 - 89110108 89111223 - 386673;390501 ABBA01030520;AL137785;AMYH02029705;KF455981;NG_022846 MPPE1P APPROVED pseudo HGNC:20143 INFERRED 6480860 MPRIP-AS1 MPRIP antisense RNA 1 p11.2 100874529 BG548937 APPROVED ncrna HGNC:41263 7175173 MPRIPP1 myosin phosphatase Rho interacting protein pseudogene 1 3 3 3 44557233 44560573 - 44619222 44622562 - 44577730 44581070 - 100421374 ABBA01024740;AC099669;AMYH02006648;NG_025573 1696890;2167598 G16017;d01504sbk pseudo HGNC:44594 INFERRED 1346408 MPP2 membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008] 17 17 17 q12-q21 38660767 38693150 - 41952727 41987079 - 43875358 43909711 - 1580863;6480464 11230166;12351654;12477932;12493773;15123239;15489334;18067320;18239623;18854154;19665017;21139048;21145461;21900206;7590743;8125298;8824795 4355 B4DRL7;B4DZ84;D3DX48;D3DX49;E5RFN8;E5RI32;E5RI47;E5RIM9;E5RIU3;E5RJK0;E5RK44;E5RK50;Q14168 ABBA01028395;ABBA01028396;ABBA01028397;AC007993;AK223560;AK294564;AK295858;AK299286;AK299321;AK299518;AK302793;AK309048;AK311166;AL136554;AMYH02033465;BC030287;CH471178;CR936598;CR936730;DC302184;DC321822;DC333563;DC347918;DC399913;KF459696;KF495763;NM_001278370;NM_001278371;NM_001278372;NM_001278373;NM_001278374;NM_001278375;NM_001278376;NM_001278381;NM_005374;XM_006721912;XM_006721913;XM_006721914 AAH30287;ABM82603;ABM85788;BAD97280;BAG57760;BAG61302;BAG61329;BAG61470;BAG63996;BAH12204;CAB66489;CAI56746;EAW51653;EAW51654;EAW51655;EAW51656;NP_001265299;NP_001265300;NP_001265301;NP_001265302;NP_001265303;NP_001265304;NP_001265305;NP_001265310;NP_005365;Q14168;XP_006721975;XP_006721976;XP_006721977 Hs.514208 1659168;1733482;1848942;2108265;2150432;2179322;2191215 D17S1249;MARC_16305-16306:1028219005:5;MPP2_8475;RH65833;RH67797;RH78315;WI-13789 DKFZp686A06252;DKFZp686J2189;DKFZp761D0712;DLG2 MAGUK p55 subfamily member 2;OTTHUMP00000165332;OTTHUMP00000165333;OTTHUMP00000227525;OTTHUMP00000227526;OTTHUMP00000227527;OTTHUMP00000227528;discs large homolog 2;discs large, homolog 2 APPROVED protein-coding ENSG00000108852 HGNC:7220 02837 600723 VALIDATED 7244110 MPTX1 mucosal pentraxin 1 (pseudogene) INTERACTS WITH ferroheme b (ortholog); heme b (ortholog) 1 1 1 q23.2 132306376 132317144 + 159246297 159246972 + 159276507 159277182 + 6480464 17903293 649458 A8MV57 ABBA01016620;AL513323;AMYH02002009;CH471121;NG_027744 A8MV57;EAW52790 MPTX pseudo HGNC:48364 INFERRED 735977 MPST mercaptopyruvate sulfurtransferase This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 21217038 21227199 + 37415683 37425863 + 37019642 37029822 + 1580863;6480464;6907045;8554872 10591208;12477932;14702039;15461802;15489334;16545926;18029348;19056867;1953758;19615732;19695240;20446008;20877624;21906983;21963094;22505724;22939629;23000965;23698001;24654937;24816145;9070219 4357 B1AH49;P25325 AB208824;ABBA01055459;AK055733;AMYH02038329;AW778940;BC003508;BC009450;BC016737;BC018717;BI463699;BI597227;BQ072744;BT019636;BX406051;CH471095;CR456523;CR541712;CX866643;CX872464;DB450861;DQ211531;DQ211532;DQ211533;NM_001013436;NM_001130517;NM_021126;X59434;XM_005261610;XM_006724253;Z73420 AAH03508;AAH16737;AAH18717;AAV38442;ABB16334;ABB16335;ABB16336;BAD92061;BAG51564;CAA42060;CAG30409;CAG46513;CAK54554;CAK54853;EAW60133;EAW60134;EAW60135;NP_001013454;NP_001123989;NP_066949;P25325;XP_005261667;XP_006724316 Hs.248267 1676584;2173014;5016781;5022578;5037552 D1S1423;D8S2279;RH68552;RH75971;SHGC-67307 MGC24539;MST;TST2 3-mercaptopyruvate sulfurtransferase;OTTHUMP00000197786;OTTHUMP00000197787;OTTHUMP00000197788;OTTHUMP00000197789;OTTHUMP00000197791;human liver rhodanese APPROVED protein-coding ENSG00000128309 HGNC:7223 11896 602496 REVIEWED 1323497 MPP6 membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008] 7 7 7 p15 24601884 24715973 + 24613007 24733322 + 24573466 24693703 + 1580863;6480464;8554872 10753959;11110791;11230166;11311936;11719186;11812149;12477932;12690205;12853948;15024025;15231747;15489334;15592455;16192290;19071123;20195357;21139048;21890473;21903422;22745667;23000965;23453885;24250222;24816145 51678 B8ZZG1;C9J4Q3;C9JGI8;F8WCD2;Q9NZW5;R4GNA8 ABBA01056725;AC003093;AC005084;AF162130;AL136836;AMYH02015378;BC012034;BC023638;BC047330;CH236948;CH471073;NM_016447;XM_005249775;XM_006715738;XM_006715739;XM_006715740;XM_006715741 AAD45919;AAH23638;AAQ96847;ABM83221;ABM86421;CAB66770;EAL24247;EAW93808;EAW93809;EAW93810;EAW93811;NP_057531;Q9NZW5;XP_005249832;XP_006715801;XP_006715802;XP_006715803;XP_006715804 Hs.533355;Hs.594275 1774126;1846937;2140185;2165836;2191585;5491754 D7S1786;G17167;GDB:1318172;GDB:4585051;MARC_26730-26731:1037208705:1;MPP6 PALS2;VAM-1;VAM1;p55T MAGUK p55 subfamily member 6;MAGUK protein p55T;OTTHUMP00000158586;OTTHUMP00000202002;OTTHUMP00000202005;OTTHUMP00000202006;OTTHUMP00000202007;VELI-associated MAGUK 1;protein associated with Lin7 2 APPROVED protein-coding ENSG00000105926 HGNC:18167 09509 606959 PROVISIONAL 1317908 MPPED1 metallophosphoesterase domain containing 1 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH pirinixic acid; 3,3',4,4',5-pentachlorobiphenyl (ortholog); ammonium chloride (ortholog) 22 22 22 q13.31 27718460 27814182 + 43807202 43903688 + 43412014 43506920 + 6480464;8554872 10591208;12477932;15461802;15489334;16344560;17043677;20379614;21145461;21900206;22779921;8666403;9266672 758 B1AH62;B1AH63;B4DS06;B7Z2S9;O15442 ABBA01014576;ABBA01017902;ABBA01017903;AK289774;AK290541;AK294912;AK295077;AK297276;AK299516;AK299531;AK316008;AL049708;AMYH02038476;AMYH02038477;BC028035;BX546033;BX890592;CH471138;CR377231;CT841512;CU137653;DA773758;FP325334;KF457471;NM_001044370;U84894;Z82172 AAC51673;AAH28035;BAF82463;BAF83230;BAG57999;BAG59748;BAG61468;BAG61479;BAH11965;BAH14379;CAJ86442;CAK54643;CAK54942;CAQ06857;CAQ08182;CAQ10809;EAW73305;EAW73306;EAW73307;NP_001037835;O15442 Hs.159538 1338018;1680194;1779023;2125379;5109381;7187923 AL022547;D22S1015E;D22S282;D22S679;WI-16313 239AB;C22orf1;FAM1A;FLJ50009;FLJ54633;FLJ59965;FLJ78907;MGC88045 OTTHUMP00000197847;adult brain protein 239;chromosome 22 open reading frame 1;metallophosphoesterase domain-containing protein 1 protein-coding ENSG00000186732 HGNC:1306 03663 602112 VALIDATED 1606418 MPV17L MPV17 mitochondrial membrane protein-like ENCODES a protein that exhibits receptor binding; INVOLVED IN negative regulation of hydrogen peroxide biosynthetic process; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; reactive oxygen species metabolic process; FOUND IN peroxisome; INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; disodium selenite 16 16 16 p13.11 15170072 15184012 + 15489611 15503543 + 15395577 15409686 + 6480464 12477932;14702039;16341674;16631601;19322201;21832049 255027 H3BT45;Q2QL34 ABBA01048888;ABBA01048889;AC137803;AC140504;AC243733;AK096918;AK293380;BC061514;BM838624;CH471226;DQ004255;DQ004256;NM_001128423;NM_173803;XR_429641;XR_430723 AAH61514;AAY58892;AAY58893;BAC04895;BAG56892;EAW53914;EAW53915;NP_001121895;NP_776164;Q2QL34 Hs.720673 5015404;5021228;5022200;5024413;5037552 D8S2279;GDB:312794;L17705;L17877;L18426 FLJ39599;M-LPH;MGC70356;MLPH1;MLPH2;MPV17L1 M-LP homolog;Mpv17-like protein type 1;Mpv17-like protein type 2;OTTHUMP00000160326;mpv17-like protein protein-coding HGNC:26827 08803 VALIDATED 1353525 MPV17 MpV17 mitochondrial inner membrane protein This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008] 2 2 2 p23.3 27379464 27393076 - 27532360 27545969 - 27309492 27323102 - 1580863;6480464;7240710;8554872;8699517 12471025;12477932;14702039;15489334;15815621;16582907;16582910;16631601;16909392;17694548;18261905;18329934;18695062;19012992;19520594;20074988;20178365;20614188;20843780;20877624;22306510;22593919;22939629;7564095;7957077;8281143;8427063 4358 A8MPV4;A8MTD3;AAB25210;B5MC10;B5MC53;B5MCF8;C9J473;E7EX18;F8WEL3;G5E9F5;H0Y6M5;P39210 ABBA01045201;ABBA01045202;AC013413;AF038633;AF088036;AK093305;AK123373;AMYH02003476;BC001115;BC016289;BG714998;BI602840;CH471053;CQ868548;HQ205986;HQ205987;HQ205988;HQ205989;HQ205990;HQ205991;HQ205992;HQ205993;HQ205994;HQ205995;HQ205996;HQ205997;HQ205998;HQ205999;HQ206000;HQ206001;HQ206002;HQ206003;HQ206004;HQ206005;HQ206006;HQ206007;HQ206008;HQ206009;HQ206010;HQ206011;HQ206012;HQ206013;HQ206014;HQ206015;HQ206016;HQ206017;HQ206018;HQ206019;HQ206020;HQ206021;HQ206022;HQ206023;HQ206024;HQ206025;KF510806;NG_008075;NM_002437;S68430;X76538;XM_005264326;XM_005264327;XM_006712021 AAB25210;AAC24205;AAD14014;AAH01115;AAH16289;AAY24298;ABM83205;ABM86405;ADP91854;ADP91855;ADP91856;ADP91857;ADP91858;ADP91859;ADP91860;ADP91861;ADP91862;ADP91863;ADP91864;ADP91865;ADP91866;ADP91867;ADP91868;ADP91869;ADP91870;ADP91871;ADP91872;ADP91873;ADP91874;ADP91875;ADP91876;ADP91877;ADP91878;ADP91879;ADP91880;ADP91881;ADP91882;ADP91883;ADP91884;ADP91885;ADP91886;ADP91887;ADP91888;ADP91889;ADP91890;ADP91891;ADP91892;ADP91893;CAA54047;CAH33966;EAX00597;EAX00598;EAX00599;EAX00600;EAX00601;EAX00602;EAX00603;EAX00604;NP_002428;P39210;XP_005264383;XP_005264384;XP_006712084 Hs.75659 1648785;1664646;1767837;2149877;5109281;5491513 D1S1425;G19419;MARC_16687-16688:1017861800:1;RH70909;STS-X76538;WI-18702 MTDPS6;SYM1 Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome;OTTHUMP00000122591;OTTHUMP00000122592;OTTHUMP00000201076;OTTHUMP00000201077;OTTHUMP00000201081;OTTHUMP00000201082;OTTHUMP00000201084;OTTHUMP00000201085;mpv17 transgene, murine homolog, glomerulosclerosis APPROVED protein-coding ENSG00000115204 HGNC:7224 08847 137960;256810 REVIEWED 736941 MPRIP myosin phosphatase Rho interacting protein ENCODES a protein that exhibits actin binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN actin cytoskeleton; cytoplasm; focal adhesion; INTERACTS WITH 5-fluorouracil; aflatoxin B1; benzo[a]pyrene diol epoxide I 17 17 17 p11.2 17885731 18028474 + 16945790 17095962 + 17042476 17192648 + 6480464;7777166;8554872 22908283 10048485;12477932;14506264;14702039;15161933;15324660;15469989;15489334;15545284;15778465;16243315;16257966;16751776;17081983;17353931;17620599;18636174;20360068;20368287;20473970;20876399;21078624;21163940;21242312;21441570;21890473;21906983;21963094;21988832;22349701;23000965;23251661;23382691;23398456;24332808;8889548;9199174 23164 A8MZF8;H0Y2S9;H0Y7E2;H7C3G6;J3KSK7;J3KSW8;J3QL44;J3QRL2;K7EJ14;K7EL39;Q6WCQ1;Q8N236 AB020671;AB098507;AB189741;AB362572;AB362573;ABBA01009768;ABBA01009769;AC055811;AC079111;AC104024;AJ844625;AK025229;AK025604;AK026035;AK091337;AK092287;AL834513;AMYH02033086;AMYH02033087;AY296247;BC009982;BC012426;BC014102;BC021058;BC021070;BC030255;BC050323;BC063588;BC075847;BC105987;BC136479;BE048871;BU527795;CF126021;CH471196;D23673;DQ582316;NM_015134;NM_201274;XM_005256563;XM_005256564;XM_006721487;XM_006721488;XM_006721489;XM_006721490 AAH09982;AAH12426;AAH75847;AAI05988;AAI36480;AAQ63176;BAA74887;BAC03851;BAC78198;BAD89507;BAF81537;BAF81538;CAD39169;CAH59751;EAW55721;EAW55722;EAW55723;EAW55724;NP_055949;NP_958431;Q6WCQ1;XP_005256620;XP_005256621;XP_006721550;XP_006721551;XP_006721552;XP_006721553 Hs.462341 1341038;1666670;1667355;1696890;1856474;2117423;2136974;2160114;2163945;2167598;5015619;5020401;5022578;5024039;5037552;5115311;5124007 A004R11;AF021130;D11S3114;D16S325;D17S1280;D17S732;D17S740;D1S1423;D8S2279;G16017;RH24996;RH65251;RH78418;SHGC-33713;STS-D29495;STS-H00647;d01504sbk KIAA0864;M-RIP;MRIP;RHOIP3;RIP3;p116Rip OTTHUMP00000065508;OTTHUMP00000065509;Rho interacting protein 3;myosin phosphatase Rho-interacting protein;myosin phosphatase-Rho interacting protein;rho-interacting protein 3 protein-coding ENSG00000133030 HGNC:30321 17591 612935 VALIDATED 1603190 MPV17L2 MPV17 mitochondrial membrane protein-like 2 FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH paracetamol; tunicamycin; valproic acid 19 19 19 p13.11 18205777 18209289 + 18303986 18307552 + 18193230 18196742 + 6480464 12477932;14702039;20877624;21139048;21833088 84769 B3KSQ2;Q567V2 ABBA01051251;AC068499;AF320622;AF416712;AK094091;AMYH02035727;BC005064;BC028146;BC093008;BG740168;CH471106;NM_032683 AAH05064;AAH93008;AAL16806;AAL30173;BAG52814;EAW84667;EAW84668;EAW84669;EAW84670;EAW84671;NP_116072;Q567V2 Hs.515254 1853032;2146064 STS-H95222;WI-22566 FKSG24;MGC110861;MGC12972 OTTHUMP00000230510;OTTHUMP00000237907;mpv17-like protein 2 protein-coding ENSG00000254858 HGNC:28177 13324 VALIDATED 1347972 MPPED2 metallophosphoesterase domain containing 2 This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 11 11 11 p13 30552446 30754292 - 30406040 30608260 - 30384493 30586713 - 6480464;8554872 12477932;15489334;16344560;17207965;19060904;19240061;20379614;21824479;21940522;22262177;22479191;22797727;7527372;8666403;8889549;9266672 744 E9PQW8;F2Z346;Q15777 AA020012;AA916486;AB209163;ABBA01060934;ABBA01060935;AK309809;AK314833;AL136088;AL353699;AL356240;AMYH02024533;BC031582;CH471064;DB214603;NM_001145399;NM_001584;U57911;XM_005253110;XM_005253111;XM_005253112;XM_005253113;XM_005253114;XM_006718304;XM_006718305 AAC50564;AAH31582;ADQ31648;BAD92400;EAW68256;EAW68257;NP_001138871;NP_001575;Q15777;XP_005253167;XP_005253168;XP_005253169;XP_005253170;XP_005253171;XP_006718367;XP_006718368 Hs.289795 1654897;1688293;1738049;1755161 D11S1145;D11S3668;RH27776;SHGC-142084 239FB;C11orf8 OTTHUMP00000232053;OTTHUMP00000232054;fetal brain protein 239;metallophosphoesterase MPPED2;metallophosphoesterase domain-containing protein 2 APPROVED protein-coding ENSG00000066382 HGNC:1180 02947 600911 REVIEWED 1343477 MPZL1 myelin protein zero-like 1 ENCODES a protein that exhibits structural molecule activity (inferred); INVOLVED IN cell-cell signaling (inferred); transmembrane receptor protein tyrosine kinase signaling pathway (inferred); FOUND IN cell surface; focal adhesion; INTERACTS WITH adenine; atrazine; bisphenol A 1 1 1 q24.2 140800446 140870412 + 167691187 167761156 + 167721950 167791919 + 1580863;6480464 10681522;11751924;12075424;12107410;12410637;12477932;12684038;12975309;15231747;15489334;15588985;16303743;16344560;16702974;16710414;17207965;18568953;19064610;19322201;19536175;19581412;19629567;20379614;21139048;21890473;21906983;21963094;21987572;22881374;23000965;24296779;9792637 9019 A8K5D4;F8WFC4;O95297;Q9UEL6 ABBA01047241;ABBA01047242;AF087020;AF092424;AF092425;AF095726;AF095727;AF181660;AF239756;AF478447;AF478448;AI635633;AK024700;AK075334;AK291249;AK297112;AK307250;AK315546;AL035302;AL035308;AL356532;AMYH02002093;AW292498;AY359019;BC000984;BC007881;BC019890;BE616859;BF528837;BT019542;BU155202;CA397666;CD556632;CD557072;CH471067;CR542160;DA725074;KF455055;NM_001146191;NM_003953;NM_024569;XM_006711614;Z99943 AAC72231;AAD55346;AAD55347;AAF00083;AAF00084;AAF00621;AAF63499;AAH07881;AAH19890;AAO14645;AAO14646;AAO14647;AAQ89378;AAV38349;ADQ31838;BAB14967;BAF83938;BAG37924;BAH12501;CAA22907;CAA22913;CAG46957;EAW90800;EAW90801;EAW90802;EAW90803;NP_001139663;NP_003944;NP_078845;O95297;XP_006711677 Hs.493919 1337552;1655864;1709018;1734920;2107401;2130906;2133337;2151497;2167855;2177653;2219088 A007A43;D1S1795E;D1S1803E;D1S2750;FLJ21047_2474;MPZL1__7200;RH12295;RH36145;SHGC-75878;SHGC-79577;WI-12092 FLJ21047;MPZL1b;PZR;PZR1b;PZRa;PZRb OTTHUMP00000032519;OTTHUMP00000032521;OTTHUMP00000201770;OTTHUMP00000201812;immunoglobulin family transmembrane protein;myelin protein zero-like protein 1;protein zero related;protein zero-related protein-coding ENSG00000197965 HGNC:7226 05086 604376 VALIDATED 1601712 MPZL3 myelin protein zero-like 3 INVOLVED IN cell adhesion (inferred); extracellular matrix organization (inferred); hair cycle (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; fonofos 11 11 11 q23.3 115258214 115280889 - 118097405 118124135 - 118226690 118252368 - 6480464;8554872 12477932;12975309;14702039;15340161;15489334;17273165;19054061;21982860;23400010 196264 E9PPB1;Q6UWV2 ABBA01039714;AK095399;AK289390;AK296951;AK304292;AK310966;AMYH02025637;AP002800;AY358626;BC008810;BC031223;BC113586;BC143897;CH471065;DC417020;NM_001286152;NM_198275;NR_104404;NR_104405;XM_006718775 AAI13587;AAI43898;AAQ88989;ADR83356;BAF82079;BAG53045;BAG59497;BAG65150;EAW67357;NP_001273081;NP_938016;Q6UWV2;XP_006718838 Hs.15396 1340696;1698514;1733746;1795798;2127973;5037552;7184042 D11S1341;D11S2086;D8S2279;EVA1_11;RH102807;RH67851 OTTHUMP00000234553;OTTHUMP00000234555;myelin protein zero-like protein 3 protein-coding ENSG00000160588 HGNC:27279 14114 611707 VALIDATED 1343564 MR1 major histocompatibility complex, class I-related ENCODES a protein that exhibits MHC class I receptor activity (inferred); peptide antigen binding (inferred); INVOLVED IN antigen processing and presentation of peptide antigen via MHC class I (inferred); immune response (inferred); innate immune response (inferred); ASSOCIATED WITH Melanoma (inferred); Paroxysmal nonkinesigenic dyskinesia (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 1 1 1 q25.3 154109484 154137989 + 181002561 181031074 + 181033379 181061938 + 1580863;6480464;7240710;8554872 10708443;11019920;12477932;12794138;14702039;18068122;18187620;19416870;19460752;19706888;19760593;20237496;21190736;21777569;22412157;22692454;23051753;23457030;24101382;24556396;25049333;7624800;8125298;9325151;9780177;9784382 3140 Q95460 ABBA01027785;ABBA01027786;AF010446;AF010447;AF031469;AF039526;AF223407;AJ249778;AK056155;AK222910;AK290374;AK304645;AL356267;AMYH02002255;BC012485;CH471067;DC297418;NM_001194999;NM_001195000;NM_001195035;NM_001531;U22963;XM_005245115;XM_006711286 AAC50174;AAD01442;AAD01443;AAD01933;AAD02172;AAF40170;AAH12485;BAD96630;BAF83063;BAG65423;CAB77667;EAW91095;EAW91096;EAW91097;EAW91098;NP_001181928;NP_001181929;NP_001181964;NP_001522;Q95460;XP_005245172;XP_006711349 Hs.13500 1700856;1701662;2149421;5016781;5020274;5020740;5020988;5021228;5021872;5022576;5022578;5024761;5118877 D11S3745;D1S1361;D1S1423;D22S958;GDB:312794;L17809;L18441;RH104054;RH104488;RH36905;SHGC-35563;SHGC-67307;sY3084 FLJ31593;HLALS MHC class I-like antigen MR-1;MHC class I-related gene protein;MHC class-I related-gene protein;OTTHUMP00000033129;OTTHUMP00000033130;OTTHUMP00000033131;class I histocompatibility antigen-like protein;major histocompatibility complex class I-related gene protein;major histocompatibility complex, class I-like sequence protein-coding ENSG00000153029 HGNC:4975 09012 118800;600764 VALIDATED 1316244 MPZL2 myelin protein zero-like 2 Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q24 115282009 115293130 - 118124131 118135251 - 118253416 118264536 - 1580863;6480464;8554872 12477932;12975309;15489334;16344560;17207965;21440040;21963094;21982860;21988832;9585423 10205 O60487 ABBA01039714;AF030455;AF275945;AF304447;AK290326;AMYH02025637;AP002800;AW073724;AY359061;BC017774;CH471065;DA163069;JC247465;NM_005797;NM_144765 AAC39762;AAF87240;AAG23183;AAH17774;AAQ89420;ADQ32240;BAF83015;CDM55339;EAW67358;EAW67359;NP_005788;NP_658911;O60487 Hs.116651 1686224;1698514;1795798;2116132;2180513 EVA1_11;RH102807;RH16323;RH99291;SHGC-57446 EVA;EVA1 OTTHUMP00000234557;OTTHUMP00000234558;epithelial V-like antigen 1;myelin protein zero-like protein 2 APPROVED protein-coding ENSG00000149573 HGNC:3496 05340 604873 REVIEWED 1320449 MRAP2 melanocortin 2 receptor accessory protein 2 ENCODES a protein that exhibits corticotropin hormone receptor binding; identical protein binding; type 1 melanocortin receptor binding; INVOLVED IN positive regulation of cAMP biosynthetic process; protein localization to cell surface; energy homeostasis (ortholog); PARTICIPATES IN melanocortin system pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); Obesity (inferred); FOUND IN endoplasmic reticulum; plasma membrane; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; atrazine 6 6 6 q14.2 85176774 85233960 + 84732746 84800606 + 84023027 84090887 + 5144214;6480464;8554872 20654690 12477932;14574404;14702039;15489334;15654338;17207965;18029348;18981183;19329486;20371771;21367968;21832049;22419722;23418361;23869016 112609 Q96G30 ABBA01040461;AJ420596;AK090775;AK292736;AK307078;AL161621;AMYH02014021;AMYH02014022;BC010003;BC039855;BU629097;CH471051;NM_138409;XM_005248644;XM_005248645;XM_005248646 AAH10003;AAH39855;ADQ32102;BAC03517;BAF85425;EAW48646;NP_612418;Q96G30;XP_005248701;XP_005248702;XP_005248703 Hs.370055 1661264;1720963 G59311;STS-AA039481 BMIQ18;C6orf117;RP11-51G5.2;bA51G5.2 MC2R accessory protein 2;OTTHUMP00000016804;melanocortin-2 receptor accessory protein 2 protein-coding ENSG00000135324 HGNC:21232 12843 615410;615457 VALIDATED 1603024 MRAP melanocortin 2 receptor accessory protein This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009] 21 21 21 q22.1 18847645 18870696 + 33664124 33687095 + 32291813 32314784 + 5144214;6480464;7240710;8554872 20654690 12036298;12054497;12477932;15489334;15654338;17456795;17893271;18077336;18818285;18981183;19329486;19558534;19903795;20427498;20494980;21195128;21862608;21951701;22366472;22419722;23418361 56246 Q8TCY5 ABBA01057312;ABBA01057313;AF454915;AF454916;AF483549;AMYH02037722;AP000266;AY079152;BC062721;CH471079;NG_016234;NM_001285394;NM_178817;NM_206898;XM_006724028 AAH62721;AAL51048;AAL51049;AAL80042;AAL86908;ADR82710;EAX09878;EAX09879;EAX09880;NP_001272323;NP_848932;NP_996781;Q8TCY5;XP_006724091 Hs.584940 1335774;1338223;1656879;1678761;1730640;1730881;1759847 D21S313;D21S404;D8S1718;D8S285;SHGC-170086;SHGC-6834;SHGC-87585 B27;C21orf61;FALP;FGD2;GCCD2 OTTHUMP00000107700;fat cell-specific low molecular weight protein;fat tissue-specific low MW protein;melanocortin-2 receptor accessory protein APPROVED protein-coding ENSG00000170262 HGNC:1304 10758 607398;609196 REVIEWED 737128 MPZ myelin protein zero This gene encodes a major structural protein of peripheral myelin. Mutations in this gene result in the autosomal dominant form of Charcot-Marie-Tooth disease type 1 and other polyneuropathies. [provided by RefSeq, Apr 2010] 1 1 1 q23.3 134341666 134346903 - 161274525 161279762 - 161304735 161309972 - 1358504;1358513;1580863;6480464;7240710;8554872;8699517 11080237;11801400 10071056;10212299;10214757;10329755;10406984;10553995;10737979;10923043;10965800;11437164;11438991;11445635;11545686;11673479;11835375;12207932;12211648;12221176;12402337;12477701;12477932;12497641;12845552;12911457;12940837;12948789;12953275;14638973;14711881;15036333;15050444;15094849;15159512;15184631;15241803;15249646;15261887;15326256;15489334;15555916;15596778;15729519;16162811;16169070;16198109;16279991;16344560;16398147;16414078;16488608;16543539;16775239;16856127;17030746;17142269;17143884;1719967;17602703;17663472;17825553;17940173;18209201;18337304;18422810;18663734;19259128;19293842;19475438;19882637;19906531;19928689;19950375;20215982;20301384;20301462;20301532;20301641;20456450;20461396;20516806;20544920;20556410;20621479;21107784;21179557;21503568;21787890;21971831;21988832;22018721;22222859;22243284;22275255;22433810;22457349;22490868;22589738;22622165;22633464;22704856;22734905;23197742;23279346;23743332;24028194;3467805;6099985;7503936;7504284;7505151;7506095;7509228;7511317;7514564;7518101;7527371;7530295;7530550;7550231;7688964;7693129;7693130;7694726;7762451;8630052;8664899;8797476;8816708;8835320;8844219;8990016;9187667;9217235;9222756;9595994;9633821;9888385 4359 E7EWP3;E9PL80;P25189 ABBA01016592;ABBA01016593;AC243898;AK313555;AL592295;BC006491;BF509916;BT006765;CD515400;CD515605;CH471121;D10537;D14720;DB210759;L24893;NG_008055;NM_000530;S66705;U10018;Z31718 AAA18981;AAA20656;AAB28708;AAH06491;AAP35411;ABM86811;ABW03829;BAA01395;BAA03540;BAG36330;CAA83513;EAW52605;EAW52606;NP_000521;P25189 Hs.591486 1671631;1744401;1744403;1744761;1744763;1744765;1744767;1744769;2135222;2217622 AL009353;G15925;GDB:453314;GDB:453316;GDB:567202;GDB:567206;GDB:567212;GDB:567216;GDB:567273;MPZ_930 CHM;CMT1;CMT1B;CMT2I;CMT2J;CMT4E;CMTDI3;CMTDID;DSS;HMSNIB;MPP;P0 Charcot-Marie-Tooth neuropathy 1B;OTTHUMP00000032235;OTTHUMP00000228408;myelin peripheral protein;myelin protein P0;myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) APPROVED protein-coding ENSG00000158887 HGNC:7225 01159 118200;145900;159440;180800;605253;607677;607736;607791 REVIEWED 733433 MRAS muscle RAS oncogene homolog This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 3 3 3 q22.3 136491513 136549286 + 138066490 138124377 + 138347648 138405535 + 1580863;6480464;6907045;8554872 10446149;10477695;10498616;10803462;10934204;11524421;11857081;12138204;12477932;14702039;15031288;15146197;15489334;16344560;16630891;17143285;17538012;18628988;19198612;20738937;20971364;21139048;21378990;21988832;24211266;24262325;24324551;24529757;25022756;9395237;9400994 22808 C9J601;C9J8Q6;O14807;Q6FGP0;Q8WVM9 ABBA01059093;ABBA01059094;AC022337;AC022497;AF022080;AF043938;AF493918;AI216578;AK056337;AK091633;AK123833;AK124954;AK295640;AK316071;AMYH02007768;AMYH02007769;BC017733;BC035939;BC047101;BC047690;BI488489;BI546150;BT020057;CH471052;CN356600;CR542067;DA235195;DA355883;NM_001085049;NM_001252090;NM_001252091;NM_001252092;NM_001252093;NM_012219;XM_005247228;XM_005247229 AAC52085;AAD02287;AAH17733;AAI56846;AAM12632;AAV38860;BAG54117;BAG58512;BAH14442;CAG46864;EAW79068;EAW79069;EAW79070;EAW79071;NP_001078518;NP_001239019;NP_001239020;NP_001239021;NP_001239022;NP_036351;O14807;XP_005247285;XP_005247286 Hs.527021;Hs.735125 1689737;1784690;2108831;2168634;2178142;5037552 D8S2279;MRAS_9272;RH80075;SHGC-146113;WI-19950;WIAF-1636 FLJ42964;M-RAs;R-RAS3;RRAS3 OTTHUMP00000216882;OTTHUMP00000216883;OTTHUMP00000216884;OTTHUMP00000216886;OTTHUMP00000216887;muscle and microspikes RAS;ras-related protein M-Ras;ras-related protein R-Ras3 APPROVED protein-coding ENSG00000158186 HGNC:7227 06662 608435 REVIEWED 1319655 MRC1 mannose receptor, C type 1 The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Apr 2011] 10 10 10 p12.33 17784841 17886612 + 18098332 18200091 + 17809343 17911162 + 1580863;6480464;6907045 10779515;11120831;11222859;11715017;11752456;11841552;12368450;12477932;1294118;14568928;15042510;15047828;15155616;15190005;15637102;15767290;15955449;16000387;16203868;16385451;16547227;16615932;16672549;17020928;17077296;17255364;1730714;17360361;17502612;18029348;18279703;18353434;19196802;19197942;19224860;19403625;19460752;19683778;19772890;19902202;20035344;20139978;20554962;20610655;21029423;21331365;21416197;21628571;21922073;21943158;22132194;22289891;22314623;22392581;22393309;2258707;22842622;22967244;23148569;23345393;23603511;23653008;23734186;2373685;23951013;24114918;24184555;24498098;3611070;8001982;8940052;9038177;9677318 4360 P22897;Q0Z8D6 ABBA01034548;ABBA01034549;ABBA01034550;ABBA01034551;AC069023;AK297044;AK308132;AK308167;AL139238;AL928580;AL928729;AMYH02022271;AMYH02022272;AMYH02022273;AMYH02022274;AMYH02022275;AMYH02022276;AMYH02022277;AMYH02022278;AMYH02022279;AMYH02022280;AMYH02022281;AMYH02022282;AMYH02022283;AMYH02022284;AMYH02022285;AMYH02022286;AMYH02022287;AMYH02022288;AMYH02022289;AMYH02022290;AMYH02022291;AMYH02022292;AMYH02022293;AMYH02022294;AMYH02022295;AMYH02022296;AMYH02022297;AMYH02022298;AMYH02022299;AMYH02022300;AMYH02022301;AMYH02022302;AMYH02022303;AMYH02022304;AMYH02022341;AMYH02022342;AMYH02022343;AMYH02022344;AMYH02022345;AMYH02022346;AMYH02022347;AMYH02022348;AMYH02022349;AMYH02022350;AMYH02022351;AMYH02022352;AMYH02022353;AMYH02022354;AMYH02022355;AMYH02022356;AMYH02022357;AMYH02022358;AMYH02022359;AMYH02022360;AMYH02022361;AMYH02022362;AMYH02022363;AMYH02022364;AMYH02022365;AMYH02022366;AMYH02022367;AMYH02022368;AMYH02022369;AV659122;BC016003;BC142642;BC146838;BU198859;BX255924;DC296466;DQ663787;EF444997;J05550;M93192;M93193;M93194;M93195;M93196;M93197;M93198;M93199;M93200;M93201;M93202;M93203;M93204;M93205;M93206;M93207;M93208;M93209;M93210;M93211;M93212;M93213;M93214;M93215;M93216;M93217;M93218;M93219;M93220;M93221;NM_002438;X55635;XM_006726512 AAA59868;AAA60389;AAI42643;AAI46839;ABG47462;ACA06020;BAG59571;CAH70733;CAH71176;CAI15339;NP_002429;P22897;XP_006726575 Hs.743903;Hs.75182 1646228;1724277;1796338;1849174;2129990;2139515;2152410;2186934 D10S2285;MRC1_1326;RH11113;RH11114;RH11193;RH121281;STS-J05550;STS-U10408 CD206;CLEC13D;CLEC13DL;MGC181940;MMR;MRC1L1;bA541I19.1 C-type lectin domain family 13 member D;C-type lectin domain family 13 member D-like;OTTHUMP00000019243;OTTHUMP00000019245;macrophage mannose receptor 1;macrophage mannose receptor 1-like protein 1;mannose receptor, C type 1-like 1 APPROVED protein-coding ENSG00000260314 HGNC:7228 01089 153618 VALIDATED 1345928 MRC1L1 mannose receptor, C type 1-like 1 This gene encodes a type I membrane receptor protein highly related to the mannose receptor C type 1 protein (MRC1). The two genes are located near each other on chromosome 10 in a region thought to represent a segmental duplication. [provided by RefSeq] 10 p12.33 17851362 17953178 + 6907045;6480464 12477932;18029348;20139978 414308 AL139238;AL928580;BC142642;BC146838;BX255924;CR601686;NM_001009567 AAI42643;AAI46839;CAH70872;CAH71176;CAI15339;NP_001009567;Q5VSK2 Hs.461247 1796338 MRC1_1326 CLEC13DL;bA541I19.1 C-type lectin domain family 13 member D-like;macrophage mannose receptor 1-like protein 1 protein-coding HGNC:23403 17588 REVIEWED 1320297 MRC2 mannose receptor, C type 2 This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012] 17 17 17 q23.2 55092664 55158832 + 60704762 60770962 + 62627401 62693601 + 1580863;6480464;6907045;8554872 10636902;10683150;11120831;11903048;12068012;12244146;12399458;12477932;12645947;12668656;12952933;12972549;14684825;14702039;15047828;15955449;16210410;16547227;16615932;17043677;17189524;17360361;17974964;19224860;19584075;19861500;20339555;20845060;21139048;21768090;21906983;21963094;22072289;22132194;22268729;23148569;23433549;24161566;7904248;8702911;9192860;9734811 9902 E7EME3;J3KRF1;J3QQZ6;Q9UBG0 AB014609;ABBA01035342;ABBA01035343;AC080038;AF107292;AF134838;AI458446;AK093230;AMYH02033763;AMYH02033764;AMYH02033765;AY429551;BC032763;BC146647;BC150212;BC153884;BX111813;CH471109;NG_033955;NM_006039;U58856 AAC51365;AAD30280;AAF14192;AAI46648;AAI50213;AAI53885;BAA31684;BAG52674;EAW94341;EAW94342;NP_006030;Q9UBG0 Hs.7835 1342045;1688176;1851177;1853129;2107403;2184130;2191549 D17S1283;D17S1835;MARC_26180-26181:1030714398:1;MRC2_7204;RH12891;RH47836;RH80967 CD280;CLEC13E;ENDO180;FLJ35911;KIAA0709 C-type lectin domain family 13 member E;C-type mannose receptor 2;UPAR-associated protein;UPARAP;endocytic receptor (macrophage mannose receptor family);endocytic receptor 180;macrophage mannose receptor 2;urokinase plasminogen activator receptor-associated protein;urokinase receptor-associated protein;urokinase-type plasminogen activator receptor-associated protein APPROVED protein-coding ENSG00000011028 HGNC:16875 10094 612264 REVIEWED 1344886 MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 11 q21 91438299 91514850 - 94150466 94227040 - 94417300 94493874 - 1580863;1578504;2317733;2317740;2317737;2317721;2317736;2317734;2300250;2317738;2317722;6480464;6907045;7240710;8554872;8699517;8661232;8663431;8662366 11850399;14511253;15048091;15319296;15337312;15574463;16498454;17034947;18638378;19383352;20690856;21533982;23263379 10426999;10508516;10608806;10612394;10783165;10802669;10888888;11060040;11196167;11238951;11353843;11371344;11371508;11504724;11877377;12124628;12419185;12447395;12477932;12607003;12607005;12660252;12679336;14519663;14657032;14684699;14690447;14702039;15026416;15047855;15100233;15149599;15180989;15195510;15201865;15234984;15269180;15302935;15383534;15456891;15489334;15653682;15723659;15734743;15758953;15790808;15806145;15864295;15916964;15917200;15937485;15970667;16051665;16163361;16196087;16254336;16327781;16391231;16417627;16431910;16788144;16905549;16948520;17081983;17169801;17202845;17349953;17349954;17477953;17500065;17526493;17534377;17591703;17612497;17693401;17694070;17700070;17715134;17898048;17932350;18025084;18029348;18040525;18177684;18212065;18234271;18256278;18285453;18373977;18458108;18469862;18553220;18583988;18596698;18632984;18652530;18710941;18716619;18781797;18829552;18830935;18854154;18950845;18976975;19064565;19064572;19124506;19151086;19197236;19244116;19244322;19270065;19351817;19394292;19471022;19573080;19584272;19586055;19609304;19615732;19633668;19638463;19690177;19714462;19744924;19773279;19862546;19910469;19917125;19950226;20003485;20010693;20070254;20087742;20164540;20224574;20496165;20522537;20610542;20647759;20682289;20813000;20843819;20956948;21139048;21227757;21252943;21300766;21324166;21325134;21565612;21623170;21693764;21699368;21816818;21849470;21880556;21884979;21890473;21963094;22078559;22179609;22231403;22412018;22447567;22464731;22586326;22740413;22833675;22863007;22863883;22914783;22939629;23000965;23046361;23089312;23115235;23318449;23329831;23349304;23390603;23398456;23525106;23530059;23891004;23912341;23954013;24062075;24079363;24093751;24095737;24220101;24297933;24316220;24332808;24457600;24534091;8530104;8756642;9590181;9651580;9705271;9931460 4361 B3KTC7;F5GXT0;F5H256;F5H742;F8W7U8;P49959;Q05D78 ABBA01040029;ABBA01040030;AF022778;AF073362;AF303395;AK095388;AK308318;AMYH02025373;AP000765;AP000786;AY584241;BC005241;BC017823;BC063458;BF574168;BT006730;CH471065;KF455448;NG_007261;NM_005590;NM_005591;U37359;XM_005274007;XM_005274008;XM_006718842 AAC36249;AAC78721;AAD10197;AAH05241;AAH17823;AAH63458;AAK18790;AAP35376;AAS79320;ADZ15505;BAG53039;EAW66930;EAW66931;EAW66932;EAW66933;EAW66934;NP_005581;NP_005582;P49959;XP_005274064;XP_005274065;XP_006718905 Hs.192649 1737879;1771867;1788090;1788092;1788094;1788096;1788098;1788100;1788102;1788104;1792172;1855374;2178064 D11S1058;D11S3482;G67219;G67220;G67296;G67297;G67298;G67299;G67300;G67301;MRE11;PMC138375P1;WI-17886 ATLD;HNGS1;MRE11;MRE11B AT-like disease;DNA recombination and repair protein;MRE11 homolog 1;MRE11 homolog A;OTTHUMP00000236830;OTTHUMP00000236831;OTTHUMP00000236832;OTTHUMP00000236833;double-strand break repair protein MRE11A;endo/exonuclease Mre11;meiotic recombination 11 homolog 1;meiotic recombination 11 homolog A APPROVED protein-coding ENSG00000020922 HGNC:7230 02889 600814;604391 REVIEWED 1347395 MRE11B MRE11 meiotic recombination 11 homolog B (S. cerevisiae) 3 3 3 q25 154252698 154254347 - 155828380 155832238 - 156110591 156114449 - 11371508;8530104;9651580;9931460 4362 ABBA01058840;AC091607;AC125607;AF307006;AMYH02007969;NG_001157 hMRE11B pseudo HGNC:7231 INFERRED 1604338 MREG melanoregulin INVOLVED IN melanocyte differentiation (inferred); melanosome transport (inferred); FOUND IN melanosome (inferred); plasma membrane (inferred); protein complex (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; afimoxifene 2 2 2 q35 210576874 210647909 - 216807314 216878346 - 215942591 216013623 - 6480464 12477932;14702039;15550542;17207965;19240024;20463177;21139048;21906983;22275436;23720494 55686 C9JAG4;C9JFU1;C9JYV9;Q8N565 ABBA01062801;ABBA01062802;ABBA01062803;ABBA01062804;ABBA01062805;ABBA01062806;AC010686;AC093382;AF068290;AK000978;AMYH02005752;AMYH02005753;AMYH02005754;AMYH02005755;BC032747;BC082990;BQ928130;CA843296;CH471063;CX781801;NM_018000 AAF65179;AAH32747;AAH82990;AAY14656;AAY14719;ADQ32619;BAA91453;EAW70554;EAW70555;EAW70556;NP_060470;Q8N565 Hs.620391 1336655;1774308;1847822;1848116;2143909;2172865;5015619;5015961;5016596;5037552;7187042 D11S3114;D15S1477;D2S137;D8S2279;GDB:631802;RH16400;RH16678;RH47987;SHGC-33908;WI-17547 DSU;FLJ10116;MGC90296;WDT2 OTTHUMP00000206792;OTTHUMP00000206794;OTTHUMP00000206795;OTTHUMP00000206796;dilute suppressor protein homolog;whn-dependent transcript 2 protein-coding ENSG00000118242 HGNC:25478 07645 609207 VALIDATED 1606988 MRFAP1 Morf4 family associated protein 1 This gene encodes an intracellular protein that interacts with members of the MORF4/MRG (mortality factor on chromosome 4/MORF4 related gene) family and the tumor suppressor Rb (retinoblastoma protein.) The protein may play a role in senescence, cell growth and immortalization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 4 4 4 p16.1 6544106 6546110 + 6641818 6644472 + 6640091 6642745 + 6480464 11500496;12397079;12477932;14506250;14702039;15342556;15367658;16344560;16407074;16751776;17008723;17353931;17573780;20108251;20562209;20639865;21139048;21873567;21890473;21900206;21906983;21963094;22038470;22505724;23275563;23455924 93621 B3KQA0;Q9Y605 AA486335;ABBA01012726;AC093323;AF116272;AK057736;AK074496;AK123360;AK129651;AK300242;AK303974;AL539167;AMYH02008671;BC022797;BG255189;BI858568;BP309093;CB052459;CH471131;CR457144;DA253671;DQ573007;HY038123;NM_001272053;NM_001272054;NM_033296 AAD38498;AAH22797;ABM83719;ABM87039;BAG51962;BAG53894;BAG62009;BAG64895;CAG33425;EAW82386;EAW82387;NP_001258982;NP_001258983;NP_150638;Q9Y605 Hs.406590 1657555;1680489;1733436;2114156;2128347;2153833;2182458;5092610 A005A19;DXS6765;G32212;SHGC-24755;SHGC-59176;SHGC-59806;SHGC-67772;SHGC-68198 PAM14;PGR1 MORF4 family-associated protein 1;MRFAP1 {ECO:0000312|EMBL:AAH22797.1};Mof4 family associated protein 1;OTTHUMP00000155159;OTTHUMP00000217761;OTTHUMP00000217763;T-cell activation protein;protein associated with MRG of 14 kDa;protein associated with MRG, 14 kDa APPROVED protein-coding ENSG00000179010 HGNC:24549 17589 REVIEWED 1605595 MRFAP1L1 Morf4 family associated protein 1-like 1 INTERACTS WITH arsenite(3-); cobalt dichloride; copper(2+) sulfate 4 4 4 p16.1 6611437 6613614 - 6709428 6711606 - 6707701 6709879 - 6480464 12477932;16189514;17207965;21139048;21890473;21906983;21963094;22505724;23275563 114932 Q96HT8 ABBA01012727;AC093323;AF155654;AF258591;AK312676;AMYH02008671;BC008087;BC066897;BX397546;CH471131;NM_203462;W79582;XM_005247932 AAF67011;AAG23794;AAH08087;AAH66897;ADQ32432;BAG35557;EAW82383;NP_982287;Q96HT8;XP_005247989 Hs.593159 1674180;1689037;1854267;2135124 D4S3171;RH18354;SHGC-50677;SHGC-67331 MGC9651;PP784 MORF4 family-associated protein 1-like 1;OTTHUMP00000155162 protein-coding ENSG00000178988 HGNC:28796 15162 VALIDATED 1318486 MRGBP MRG/MORF4L binding protein INVOLVED IN chromatin modification (inferred); chromatin organization (inferred); regulation of growth (inferred); PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 20 20 20 q13.33 58103435 58107575 + 61427804 61431945 + 62796452 62800593 + 6480464;9495926;8554872 21502417 11780052;12477932;12963728;14702039;15489334;15647280;16230350;16407074;17573780;18029348;18218781;18654987;19322201;19553677;20051959;20332121;21139048;21535316;21602893;22467210;24250222 55257 Q9NV56 AB085682;ABBA01021370;AK001776;AL035669;AMYH02037438;AMYH02037439;BC009889;BC014235;BC018841;CH471077;CS348926;NM_018270;XR_244123 AAH09889;AAH14235;AAH18841;ADZ15968;BAA91902;BAF80630;CAL23011;EAW75342;EAW75343;NP_060740;Q9NV56 Hs.590870 1699010 RH103076 C20orf20;Eaf7;FLJ10914;MRG15BP;URCC4 MRG(MORF4-related gene)-binding protein;MRG-binding protein;MRG/MORF4L-binding protein;OTTHUMP00000031512;up-regulated in colon cancer 4 APPROVED protein-coding HGNC:15866 16646 611157 VALIDATED 1344076 MRGPRD MAS-related GPR, member D ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN extracellular space; INTERACTS WITH atrazine; benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q13.3 66087241 66088206 - 68747490 68748455 - 68980021 68980986 - 737883;6480464 12909716 11551509;12044878;15037633;18636314;23446738 116512 Q8TDS7 AB065786;AB083627;AB154410;ABBA01023972;ABBA01023973;AMYH02025031;AP000808;AY427820;NM_198923 AAI46428;AAI56661;AAR05120;BAB89340;BAC06005;BAD20638;NP_944605;Q8TDS7 Hs.527802 2107405;5492791 MRGPRD__7297;UniSTS:482596 MRGD;TGR7 G-protein coupled receptor TGR7;OTTHUMP00000237205;beta-alanine receptor;mas-related G protein-coupled MRGD;mas-related G-protein coupled receptor member D protein-coding ENSG00000172938 HGNC:29626 06250 607231 VALIDATED 1344531 MRGPRE MAS-related GPR, member E ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 11 11 11 p15.4 3284634 3289260 - 3249041 3253616 - 3227811 3232386 - 6480464;8554872 11551509;12477932;12679517;15489334;23412934;24583173 116534 Q86SM8;W4VSQ4 ABBA01110157;AC109309;AK293940;AMYH02024202;AY255572;BC104889;BC112203;CH471158;DC309261;HG426068;NM_001039165 AAI04890;AAI12204;AAO85084;ADR82927;BAG57317;CDG86186;EAX02547;NP_001034254;Q86SM8 Hs.745512 5493211 UniSTS:485316 GPR167;MGC138408;MGRF;MRGE G protein-coupled receptor 167;G-protein coupled receptor 167;Mas-related G protein-coupled receptor F;OTTHUMP00000013406;mas-related G protein-coupled MRGE;mas-related G-protein coupled receptor member E protein-coding ENSG00000184350 HGNC:30694 607232 VALIDATED 1346995 MRGPRF MAS-related GPR, member F ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH pirinixic acid; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q13.3 66111592 66120578 - 68771862 68780850 - 69004394 69013382 - 737633;1580863;6480464 12477932 11181995;11551509;14702039;15342556;15489334;16303743;2109324;24583173 116535 F5H5R4;Q96AM1 AA936120;AB065785;ABBA01023972;AC019124;AK075450;AK075492;AK098317;AK122669;AK131068;AK293469;AL049451;AMYH02025032;AP003071;BC016964;BP376260;CH471076;CS051435;NM_001098515;NM_145015 AAH16964;BAC05284;BAC11628;BAC11649;BAC45261;BAG53655;BAG56962;CAI72211;EAW74730;EAW74731;EAW74732;NP_001091985;NP_659452;Q96AM1 Hs.118513;Hs.602397 1851957 STS-AA037714 DKFZp586B2122;FLJ16111;FLJ29034;FLJ40998;FLJ53714;GPR140;GPR168;MGC21621;MRGF;RTA G protein-coupled receptor 140;G protein-coupled receptor 168;G protein-coupled receptor MrgF;G-protein coupled receptor 140;G-protein coupled receptor 168;OTTHUMP00000237206;mas-related G protein-coupled MRGF;mas-related G-protein coupled receptor member F;mas-related gene F protein;seven transmembrane helix receptor protein-coding ENSG00000172935 HGNC:24828 607233 VALIDATED 8695124 MRGPRF-AS1 MRGPRF antisense RNA 1 11 11 q13.3 68779751 68785915 + 69012283 69017661 + 101928200 ABBA01023972;AMYH02025032;AP003071;BC039516;DA891067;HG503918;NR_120541;XR_247246;XR_247668;XR_247669;XR_252916;XR_424248;XR_428950;XR_432724 Hs.703759 ncrna HGNC:51140 VALIDATED 1351155 MRGPRG MAS-related GPR, member G ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); pirinixic acid (ortholog) 11 11 11 p15.4 3274767 3275638 - 3239174 3240043 - 3217944 3218813 - 6480464 12679517;15164054 386746 Q86SM5 ABBA01032067;AC109309;AMYH02024202;AY255583;NM_001164377 AAO85095;NP_001157849;Q86SM5 Hs.730306 GPR169;MRGG G protein-coupled receptor 169;G protein-coupled receptor MRGG;G-protein coupled receptor 169;OTTHUMP00000013407;mas-related G-protein coupled receptor member G protein-coding ENSG00000182170 HGNC:24829 607234 PROVISIONAL 1601706 MRGPRG-AS1 MRGPRG antisense RNA 1 INTERACTS WITH zinc atom; zinc(0) 11 11 11 p15.4 3275157 3279954 + 3239562 3244361 + 3218332 3223131 + 6480464 12477932;14702039;15489334 283303 Q2M3A8 ABBA01032067;AC109309;AK093421;AK097749;AMYH02024202;AY422795;BC104971;BC104973;CH471158;HG503455;HG503457;NR_027138 AAR84193;BAC04158;BAC05159;EAX02545;EAX02546;Q2M3A8 Hs.151154 1336021;5493231 D11S1923;UniSTS:485412 C11orf36;FLJ36102;HSD-40;MGC132631;MGC132633 APPROVED ncrna ENSG00000236301 HGNC:26691 08770 VALIDATED 1605552 MRGPRX1 MAS-related GPR, member X1 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN acute-phase response (inferred); G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 11 11 11 p15.1 19087796 19088985 - 18955360 18956549 - 18933813 18935002 - 6480464;8554872 11551509;11850634;12044878;12477932;15489334;15782186;23074220;24583173 259249 Q96LB2;W8W3P5 AB065846;AB083628;ABBA01061041;AC023078;AF474989;AF474990;AMYH02024404;AY042213;BC096835;CH471064;EU883578;HG426070;NM_147199 AAH96835;AAK91804;AAL86880;AAL86881;ACG60652;BAB89341;BAC06064;CDG86188;EAW68360;NP_671732;Q96LB2 Hs.711459 1737973;1852321;2219946 D11S2376;D11S3578;MRGX1__6155 GPCR;MGRG2;MRGX1;SNSR4 G protein-coupled receptor MRGX1;G protein-coupled receptor SNSR3;Mas-related G protein-coupled receptor G2;OTTHUMP00000222450;mas-related G-protein coupled receptor member X1;sensory neuron-specific G-protein coupled receptor 3/4 protein-coding ENSG00000170255 HGNC:17962 06246 607227 PROVISIONAL 1603280 MRGPRX2 MAS-related GPR, member X2 ENCODES a protein that exhibits G-protein coupled receptor activity; neuropeptide binding; INVOLVED IN positive regulation of cytokinesis; FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (+)-catechin; methotrexate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 p15.1 19208469 19214692 - 19076002 19082228 - 19054455 19060681 - 6480464 11551509;12044878;12477932;12915402;15489334;15862286;18636314;22069323;23698749;24583173 117194 Q96LB1;W8W3L5 AB065811;AB083626;ABBA01061039;AC027026;AMYH02024404;AY042214;AY651130;AY651131;AY651132;AY651133;AY651134;AY651135;AY651136;AY651137;AY651138;AY651139;AY651140;AY651141;AY651142;AY651143;AY651144;AY651145;AY651146;AY651147;AY651148;AY651149;AY651150;AY651151;AY651152;AY651153;AY651154;AY651155;AY651156;AY651157;AY651158;AY651159;AY651160;AY651161;AY845175;AY845176;BC063450;CH471064;EU883579;HG426071;NM_054030 AAH63450;AAK91805;AAW70043;AAW70044;AAW70045;AAW70046;AAW70047;AAW70048;AAW70049;AAW70050;AAW70051;AAW70052;AAW70053;AAW70054;AAW70055;AAW70056;AAW70057;AAW70058;AAW70059;AAW70060;AAW70061;AAW70062;AAW70063;AAW70064;AAW70065;AAW70066;AAW70067;AAW70068;AAW70069;AAW70070;AAW70071;AAW70072;AAW70073;AAW70074;AAW70082;AAW70083;ACE86644;ACE87326;ACG60653;BAB89339;BAC06030;CDG86189;EAW68359;NP_473371;Q96LB1 Hs.350566 MGRG3;MRGX2 G protein-coupled receptor MRGX2;Mas-related G protein-coupled receptor G3;OTTHUMP00000231889;mas-related G-protein coupled receptor member X2 protein-coding ENSG00000183695 HGNC:17983 06247 607228 PROVISIONAL 1603279 MRGPRX3 MAS-related GPR, member X3 This gene encodes a member of the mas-related/sensory neuron specific subfamily of G protein coupled receptors. The encoded protein may be involved in sensory neuron regulation and in the modulation of pain. [provided by RefSeq, Oct 2009] 11 11 11 p15.1 18274798 18292323 + 18142502 18160027 + 18120955 18138480 + 6480464 11551509;11850634;12477932;15489334;15809047;16284629 117195 E9PPY5;Q96LB0 ABBA01061060;AC090099;AF474987;AF474988;AMYH02024387;AY042215;BC067292;CH471064;EU432126;NM_054031 AAH67292;AAK91806;AAL86878;AAL86879;ABY87925;EAW68417;NP_473372;Q96LB0 Hs.380177 GPCR;MRGX3;SNSR1;SNSR2 G protein-coupled receptor MRGX3;G protein-coupled receptor SNSR1;G protein-coupled receptor SNSR2;OTTHUMP00000232887;mas-related G-protein coupled receptor member X3;mas-related GPCR member X3;sensory neuron-specific G-protein coupled receptor 1/2 APPROVED protein-coding ENSG00000179826 HGNC:17980 06248 607229 REVIEWED 1603278 MRGPRX4 MAS-related GPR, member X4 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 11 11 11 p15.1 18326688 18328131 + 18194384 18195827 + 18172837 18174280 + 6480464;8554872 11551509;11850634;12477932;15489334;20379614 117196 Q96LA9 ABBA01061060;AC090099;AF474991;AF474992;AMYH02024387;AY042216;BC095509;BC107099;BC107100;CH471064;CN835944;NM_054032 AAH95509;AAI07100;AAI07101;AAK91807;AAL86882;AAL86883;EAW68416;NP_473373;Q96LA9 Hs.632138 2107407;5493067 MRGX4__7298;UniSTS:484086 GPCR;MGC129753;MGC129754;MRGX4;SNSR6 G protein-coupled receptor MRGX4;G protein-coupled receptor SNSR5;G protein-coupled receptor SNSR6;OTTHUMP00000232903;mas-related G-protein coupled receptor member X4;sensory neuron-specific G-protein coupled receptor 5/6 protein-coding ENSG00000179817 HGNC:17617 06249 607230 VALIDATED 1604271 MRI1 methylthioribose-1-phosphate isomerase 1 ENCODES a protein that exhibits identical protein binding; INVOLVED IN cellular metabolic process (inferred); cellular nitrogen compound metabolic process (inferred); L-methionine biosynthetic process from methylthioadenosine (inferred); PARTICIPATES IN cysteine and methionine metabolic pathway; FOUND IN cytoplasm; nucleolus; INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; copper atom 19 19 19 p13.2 13769122 13778884 + 13875328 13885096 + 13764514 13774282 + 6480464;6907045 11076863;11230166;11256614;12477932;12975309;15215245;15231748;15489336;16189514;16381901;17207965;19447967;19620624;21139048;21853274;21963094;22939629;23124037;23859498;24816145;25027693 84245 K7EM59;Q9BV20 ABBA01029722;ABBA01029723;AC008686;AF318324;AL834276;AMYH02035586;AMYH02035587;AY358176;BC001703;BM147362;CH471106;NM_001031727;NM_032285;XR_244089 AAH01703;AAL55831;AAQ88543;ACE86908;ACE87595;ADQ32721;CAD38951;CAL37494;CAL38102;EAW84369;EAW84370;EAW84371;NP_001026897;NP_115661;Q9BV20 Hs.439370 1848706;1857670;2157596;5014051;5015861;5015879;5015881;5015961;5016596;5020414;5037552;7185938 A007D32;D10S16;D15S1477;D19S1134;D8S2278;D8S2279;GDB:314949;GDB:335751;GDB:631802;L17688;RH78312 M1Pi;MGC3207;MRDI;MTNA;Ypr118w MTR-1-P isomerase;S-methyl-5-thioribose-1-phosphate isomerase;S-methyl-5-thioribose-1-phosphate isomerase 1;mediator of RhoA-dependent invasion;methylthioribose-1-phosphate isomerase;methylthioribose-1-phosphate isomerase homolog;translation initiation factor eIF-2B subunit alpha/beta/delta-like protein APPROVED protein-coding ENSG00000037757 HGNC:28469 14548 615105 VALIDATED 1605341 MRM1 mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN RNA methylation (inferred); RNA processing (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q12 31780302 31787679 + 34958010 34965407 + 36601581 36608971 + 6480464 12477932;14702039;15489334;16712791;17207965;20186120;20877624;21900206;24036117;24250222;24457600;8125298 79922 Q6IN84 ABBA01012428;AC003042;AC243732;AK026231;AK225449;AK292307;BC009416;BC072411;CB137408;CH471199;CR457357;NM_024864;XM_005257694;XM_006722095;XM_006725349;XM_006725350 AAH09416;AAH72411;ADQ32009;BAB15401;BAF84996;CAG33638;EAW57571;EAW57572;NP_079140;Q6IN84;XP_005257751;XP_006722158;XP_006725412;XP_006725413 Hs.194864 2120713;2160516 RH78009;STS-T49181 FLJ22578 mitochondrial large ribosomal RNA ribose methylase;rRNA methyltransferase 1, mitochondrial protein-coding ENSG00000278619 HGNC:26202 08656 VALIDATED 1342837 MRO maestro This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 18 18 18 q21 45178236 45208500 - 48321490 48351808 - 50795120 50825438 - 737633;1580863;6480464 12477932 11401430;12889070;14702039;15489334;16344560;17207965 83876 K7EKU2;K7ELT8;K7EPK7;Q9BYG7 AB042647;ABBA01018674;ABBA01018675;ABBA01018676;ABBA01018677;AC015864;AI479272;AI829586;AK054702;AK294757;AK295666;AL705398;AMYH02034703;BC029860;CH471096;DA416200;DB473056;DC333169;DC403805;NM_001127174;NM_001127175;NM_001127176;NM_031939;XM_005258365;XM_005258366;XM_005258367;XM_005258368 AAH29860;ADQ31893;BAB40981;BAB70797;BAH11871;BAH12148;EAW62978;EAW62979;NP_001120646;NP_001120647;NP_001120648;NP_114145;Q9BYG7;XP_005258422;XP_005258423;XP_005258424;XP_005258425 Hs.30495 1665279;5015861;5037552;7185938 D10S16;D8S2279;WI-14766 B29;C18orf3;FLJ30140 OTTHUMP00000163544;beside the Ma29 deletion;male-specific transcription in the developing reproductive organs;protein maestro APPROVED protein-coding ENSG00000134042 HGNC:24121 16276 608080 REVIEWED 2302193 MROH1 maestro heat-like repeat family member 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH methyl methanesulfonate; quercetin; valproic acid 8 8 8 q24.3 141546188 141660711 + 145202919 145316843 + 144148016 144261940 + 6480464;8554872 11181995;11347906;12477932;14702039;15146197;16344560;20379614;21139048;21890473;21906983;23000965;24250222;24816145 727957 B4DIR5;E9PHY8;Q8NDA8 AB058736;ABBA01005218;ABBA01005219;ABBA01005220;ABBA01005221;ABBA01005222;ABBA01005223;AC104592;AC110280;AC145291;AI660468;AK023386;AK092861;AK093563;AK093585;AK124551;AK295740;AL834145;AL834309;AMYH02018962;AMYH02018963;AMYH02018964;AMYH02018965;AMYH02018966;AMYH02018967;AMYH02018968;AMYH02018969;AMYH02018970;AMYH02018971;AMYH02018972;AMYH02018973;AMYH02018974;AMYH02018986;AMYH02018987;AMYH02018988;AMYH02018989;AMYH02018990;AMYH02018991;AMYH02018992;AMYH02018993;BC017118;BC040742;BC057824;BC067855;BC092486;BC146603;CH471162;CN333563;DA934047;NM_001099280;NM_001099281;NM_001288814;NM_032450;XM_006716626;XM_006716627;XM_006716628;XM_006716629;XM_006716630;XM_006716631;XM_006716632;XM_006716633;XM_006716634;XM_006716635;XM_006716636;XR_428380;XR_428381 AAH17118;AAH40742;AAH57824;AAH67855;AAH92486;BAB47462;BAG58577;CAD38858;CAD38979;EAW82134;EAW82135;EAW82136;EAW82137;EAW82138;EAW82139;EAW82140;EAW82141;EAW82142;EAW82143;EAW82144;EAW82145;NP_001092750;NP_001092751;NP_001275743;NP_115826;Q8NDA8;XP_006716689;XP_006716690;XP_006716691;XP_006716692;XP_006716693;XP_006716694;XP_006716695;XP_006716696;XP_006716697;XP_006716698;XP_006716699 Hs.443139 2148557;5014051;5015619;5016478;5021872;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;GDB:434012;WI-17683;sY3084 DKFZp434I0113;DKFZp434P167;FLJ13324;FLJ35542;FLJ36244;FLJ36266;FLJ42560;HEATR7A;KIAA1833;MGC50841 HEAT repeat containing 7A;HEAT repeat-containing protein 7A;OTTHUMP00000230958;OTTHUMP00000230959;OTTHUMP00000230960;maestro heat-like repeat-containing protein family member 1 APPROVED protein-coding ENSG00000179832 HGNC:26958 VALIDATED 2302189 MROH2A maestro heat-like repeat family member 2A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); orphenadrine (ortholog); potassium dichromate (ortholog) 2 2 2 q37.1 228407684 228462484 + 234684325 234742069 + 233775679 233833423 + 6480464;8554872 12477932;17567994;20379614;21646302 339766 A6NES4;C9IYW5;F8VUA0 ABBA01001950;ABBA01001951;AC005538;AC006985;AMYH02006011;BC042133;CH471063;DQ655967;DQ655968;DQ655969;NM_001287395;XM_006712484 A6NES4;AAH42133;EAW71063;NP_001274324;XP_006712547 Hs.361778;Hs.736887 1649276;1800572;1804414;1804512;1804628;1804716;1804798;1805134;1805406;1805890;1806280;1806902;1807178;1807572;1808274;1808758;1808904;1809186;1809906;1810568;1811092;1812312;1813480;1818314;1818512;1821878;1821978;1822192;1822392;1822924;1823700;1824442;1826454;1826808;1827918;1828706;1829016;1829076;1830860;1831128;1831390;1834126;1838768;1840902;1841168;1842062;1842344;1843604;1844108;1844776;1845412;1846422;1949748;1949750;1949752;1949754;1949756;1949758;1949760;1949762;1949764;1949766;1949768;1949770;1949772;1949774;1949776;1949778;1949780;1949782;1949784;1949786;1949788;1949790;1949792;1949794;1949796;1949798;1949800;1949802;1949804;1949806;1949808;1949810;1949812;1949814;1949816;1949818;1949820;1949822;1949824;1949826;1949828;1949830;1949832;1949834;1949836;1949838;1949840;1949842;1949844;1949846;1949848;1949850;1949852;1949854;1949856;1949858;1949860;1949862;1949864;1949866;1949868;1949870;1949872;1949874;1949876;1949878;1949880;1949882;1949884;1949886;1949888;1949890;1949892;1949894;1949896;1949898;1949900;1949902;1949904;1949906;1949908;1949910;1949912;1949914;1949916;1949918;1949920;1949922;1949924;1949926;1949928;1949930;1949932;1949934;1949936;1949938;1949940;1949942;1949944;1949946;1949948;1949950;1949952;1949954;1949956;1949958;1949960;1949962;1949964;1949966;1949968;1949970;1949972;1949974;1949976;1949978;1949980;1949982;1949984;1949986;1949988;1949990;1949992;1949994;1949996;1949998;1950000;1950002;1950004;1950006;1950008;1950010;1950012;1950014;1950016;1950018;1950020;1950022;1950024;1950026;1950028;1950030;1950032;1950034;1950036;1950038;1950040;1950042;1950044;1950046;1950048;1950050;1950052;1950054;1950056;1950058;1950060;1950062;1950064;1950066;1950068;1950070;1950072;1950074;1950076;1950078;1950080;1950082;1950084;1950086;1950088;1950090;1950092;1950094;1950096;1950098;1950100;1950102;1950104;1950106;1950108;1950110;1950112;1950114;1950116;1950118;1950120;1950122;1950124;1950126;1950128;1950130;1950132;1950134;1950136;1950138;1950140;1950142;1950144;1950146;1950148;1950150;1950152;1950154;1950156;1950158;1950160;1950162;1950164;1950166;1950168;1950170;1950172;1950174;1950176;1950178;1950180;1950182;1950184;1950186;1950188;1950190;1950192;1950194;1950196;1950198;2201406;2201408;2201410;2201412;2201414;2201416;2201418;2201420;2201422;2201424;2201426;2201428;2201430;2201432;2201434;2201436;2201438;2201440;2201442;2201444;2201446;2201448;2201450;2201452;2201454;2201456;2201458;2201460;2201462;2201464;2201466;2201468;2201470;2201472;2201474;2201476;2201478;2201480;2201482;2201484 ECD01147;ECD03131;ECD03185;ECD03246;ECD03290;ECD03332;ECD03509;ECD03650;ECD03898;ECD04095;ECD04416;ECD04555;ECD04758;ECD05118;ECD05362;ECD05435;ECD05583;ECD05945;ECD06277;ECD06544;ECD07163;ECD07761;ECD10214;ECD10318;ECD12025;ECD12075;ECD12182;ECD12284;ECD12550;ECD12942;ECD13319;ECD14341;ECD14519;ECD15082;ECD15480;ECD15635;ECD15665;ECD16566;ECD16700;ECD16831;ECD18211;ECD20562;ECD21644;ECD21778;ECD22234;ECD22375;ECD23012;ECD23267;ECD23604;ECD23923;ECD24431;G09577;REN45722;REN45723;REN45724;REN45725;REN45726;REN45727;REN45728;REN45729;REN45730;REN45731;REN45732;REN45733;REN45734;REN45735;REN45736;REN45737;REN45738;REN45739;REN45740;REN45741;REN45742;REN45743;REN45744;REN45745;REN45746;REN45747;REN45748;REN45749;REN45750;REN45751;REN45752;REN45753;REN45754;REN45755;REN45756;REN45757;REN45758;REN45759;REN45760;REN45761;REN45762;REN45763;REN45764;REN45765;REN45766;REN45767;REN45768;REN45769;REN45770;REN45771;REN45772;REN45773;REN45774;REN45775;REN45776;REN45777;REN45778;REN45779;REN45780;REN45781;REN45782;REN45783;REN45784;REN45785;REN45786;REN45787;REN45788;REN45789;REN45790;REN45791;REN45792;REN45793;REN45794;REN45795;REN45796;REN45797;REN45798;REN45799;REN45800;REN45801;REN45802;REN45803;REN45804;REN45805;REN45806;REN45807;REN45808;REN45809;REN45810;REN45811;REN45812;REN45813;REN45814;REN45815;REN45816;REN45817;REN45818;REN45819;REN45820;REN45821;REN45822;REN45823;REN45824;REN45825;REN45826;REN45827;REN45828;REN45829;REN45830;REN45831;REN45832;REN45833;REN45834;REN45835;REN45836;REN45837;REN45838;REN45839;REN45840;REN45841;REN45842;REN45843;REN45844;REN45845;REN45846;REN45847;REN45848;REN45849;REN45850;REN45851;REN45852;REN45853;REN45854;REN45855;REN45856;REN45857;REN45858;REN45859;REN45860;REN45861;REN45862;REN45863;REN45864;REN45865;REN45866;REN45867;REN45868;REN45869;REN45870;REN45871;REN45872;REN45873;REN45874;REN45875;REN45876;REN45877;REN45878;REN45879;REN45880;REN45881;REN45882;REN45883;REN45884;REN45885;REN45886;REN45887;REN45888;REN45889;REN45890;REN45891;REN45892;REN45893;REN45894;REN45895;REN45896;REN45897;REN45898;REN45899;REN45900;REN45901;REN45902;REN45903;REN45904;REN45905;REN45906;REN45907;REN45908;REN45909;REN45910;REN45911;REN45912;REN45913;REN45914;REN45915;REN45916;REN45917;REN45918;REN45919;REN45920;REN45921;REN45922;REN45923;REN45924;REN45925;REN45926;REN45927;REN45928;REN45929;REN45930;REN45931;REN45932;REN45933;REN45934;REN45935;REN45936;REN45937;REN45938;REN45939;REN45940;REN45941;REN45942;REN45943;REN45944;REN45945;REN45946;REN45947;stSG620151;stSG620152;stSG620153;stSG620154;stSG620155;stSG620157;stSG620158;stSG620159;stSG620160;stSG620161;stSG620162;stSG620163;stSG620164;stSG620165;stSG620166;stSG620167;stSG620168;stSG620169;stSG620170;stSG620171;stSG620172;stSG620173;stSG620174;stSG620175;stSG620176;stSG620177;stSG620178;stSG620179;stSG620180;stSG620181;stSG620182;stSG620183;stSG620184;stSG620185;stSG620186;stSG620187;stSG620188;stSG620189;stSG620190;stSG620191 HEATR7B1 HEAT repeat containing 7B1;HEAT repeat-containing protein 7B1;OTTHUMP00000065067;maestro heat-like repeat-containing protein family member 2A APPROVED protein-coding ENSG00000185038 HGNC:27936 INFERRED 1604530 MROH2B maestro heat-like repeat family member 2B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH mono(2-ethylhexyl) phthalate (ortholog); potassium dichromate (ortholog) 5 5 5 p13.1 40886706 40960038 - 40998122 41071444 - 40998020 41071342 - 6480464;8554872 12477932;14702039;19221116;20379614;22939629;25015289 133558 B3KXY2;F5GZ06;Q4G0Z6;Q7Z745 ABBA01024227;ABBA01024228;AC114967;AF432068;AK097562;AK126005;AK128183;AL832763;AMYH02011219;BC026008;BC034600;BC044937;BC052962;BF979306;CH471119;CR749346;HC006994;NM_173489;XM_006714439 AAH34600;AAH52962;AAP97306;BAC05103;BAG54275;BAG54644;CAH18199;CBH19302;EAW56009;EAW56010;EAW56011;NP_775760;Q7Z745;XP_006714502 Hs.97714 1298299;1657475;2174496 D5S1457;D5S2506;D5S2856 DKFZp781F0822;FLJ40243;HEATR7B2 HEAT repeat family member 7B2;HEAT repeat family member B2;HEAT repeat-containing protein 7B2;OTTHUMP00000221404;OTTHUMP00000236773;maestro heat-like repeat-containing protein family member 2B APPROVED protein-coding ENSG00000171495 HGNC:26857 08808 VALIDATED 7205138 MROH4P maestro heat-like repeat family member 4, pseudogene 8 8 143648621 143656823 - 142567260 142575462 - 101154686 ABBA01029411;AC139676;AMYH02018924;NG_033034 pseudo HGNC:44902 INFERRED 1602032 MROH5 maestro heat-like repeat family member 5 FOUND IN Golgi apparatus (inferred) 8 8 8 q24.3 138610353 138681759 - 142443929 142517330 - 141433829 141507230 - 12477932;16344560;18976975;21988832;23870195 389690 E5RFU7;E5RII6;Q6ZMW9;Q6ZUA9 ABBA01013690;ABBA01029374;ABBA01029375;AC100803;AC138647;AK125848;AK131461;AMYH02018905;AMYH02018906;BC144560;CH471060;DB063153;DB070296;DB072034;DN831584;HC006996;HC044709;KF459654;KF459918;NM_207414;NR_102363;NR_102364 AAI72345;BAC86317;BAD18606;CBH19303;CBH30684;EAW92232;EAW92233;EAW92234;NP_997297;Q6ZUA9 Hs.689547 1690005;1764885;1786654 RH79822;SHGC-148446;SHGC-149588 OTTHUMP00000227551;hypothetical protein LOC389690;uncharacterized protein LOC389690 APPROVED protein-coding ENSG00000226807 HGNC:42976 13480 VALIDATED 1603139 MROH6 maestro heat-like repeat family member 6 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH lead(0); lead(2+) 8 8 8 q24.3 140958618 140965169 - 144648362 144654928 - 143566192 143573053 - 6480464;8554872 12477932;16344560;21906983;24250222;9776767 642475 A6NGR9;E9PJR4;E9PPP7 ABBA01005247;ABBA01005248;ABBA01005249;AC067930;AF086255;AF289596;AK292180;AL040647;AMYH02018943;AMYH02018944;BC029031;BM148864;BX341537;CD579780;DB003146;DN831781;NM_001100878;XM_006716615;XM_006725091 A6NGR9;AAL55780;BAF84869;NP_001094348;XP_006716678;XP_006725154 Hs.531406 1685461;2121986;2159684 D8S2072;RH99218;WI-8705 C8orf73 OTTHUMP00000228709;OTTHUMP00000228713;maestro heat-like repeat-containing protein family member 6;putative uncharacterized protein C8orf73 APPROVED protein-coding ENSG00000204839 HGNC:27814 VALIDATED 1605524 MROH7 maestro heat-like repeat family member 7 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH fonofos; parathion; terbufos 1 1 1 p32.3 53395010 53463531 + 55107427 55175939 + 54641754 54710266 + 6480464;8554872 12477932;14702039;20379614;23942779;8889548 374977 B4DXB3;B7Z7S6;B7ZBM2;F8W8P2;F8WE25;F8WFA2;Q68CQ1 ABBA01074709;ABBA01074710;ABBA01074711;AK093272;AK128221;AK130047;AK301894;AK302446;AK302703;AL042708;AL096749;AL117640;AL139244;AL590093;AL704849;AL832492;AMYH02001058;AMYH02001059;BC029191;BC095478;BC126126;BC143891;BC143892;BC144516;BM673384;DB040876;DB457600;HY195227;KF495959;NM_001039464;NM_001291332;NR_026782;NR_111931 AAH29191;AAI26127;AAI43892;BAC04116;BAC85285;BAC87334;BAG63325;BAG63928;BAH13712;CAH10722;NP_001034553;NP_001278261;Q68CQ1 Hs.412482 2114209;2159654;5021396;5037552;5112017 AL010098;D8S2279;G44365;GDB:313783;SHGC-57715 C1orf175;DKFZp434K085;DKFZp686L2332;DKFZp781B0622;FLJ45063;FLJ46354;HEATR8 HEAT repeat containing 8;HEAT repeat-containing protein 8;OTTHUMP00000205833;OTTHUMP00000211242;OTTHUMP00000211248;hypothetical protein LOC374977;maestro heat-like repeat-containing protein family member 7 APPROVED protein-coding ENSG00000184313 HGNC:24802 10993 VALIDATED 7384264 MROH7-TTC4 MROH7-TTC4 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring MROH7 (maestro heat-like repeat family member 7) and TTC4 (tetratricopeptide repeat domain 4) genes. Alternative splicing results in multiple transcript variants, which are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to produce protein products. [provided by RefSeq, Aug 2013] 1 1 p32.3 55107427 55208330 + 54641754 54742657 + 8554872 12477932;20967262;23942779 100527960 F8WC02 ABBA01074708;ABBA01074709;ABBA01074710;ABBA01074711;AK127008;AL139244;AL590093;AMYH02001058;AMYH02001059;BC028620;BX648088;CR749830;KF495959;NR_037639;NR_037640;NR_037641 CAH18687 2137088;2159163;5037552 Cda16a09;D7S2334;D8S2279 HEATR8-TTC4 ncrna HGNC:49180 VALIDATED 1352113 MROH8 maestro heat-like repeat family member 8 The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] 20 20 20 q11.22 32437218 32515565 - 35729629 35807974 - 37101226 37179588 - 6480464;8554872 11076863;11256614;11780052;12477932;14702039;15342556;15489336;15635413;16381901;19668339;20379614;21832049 140699 E7ETR9;H0Y2W4;H0Y3S5;H0Y7Y5;Q0P682;Q5JYQ9;Q5JYR0;Q6PF12;Q9H579 ABBA01006611;ABBA01006612;ABBA01006613;ABBA01006614;ABBA01006615;AK093432;AL031659;AL136172;AL833864;AL844420;AMYH02037044;BC030006;BC057767;BP371691;BU783865;BX098572;BX119123;NG_033795;NM_152503;NM_213631;NM_213632 AAH30006;AAH57767;BAC04162;CAD38722;CAL37400;CAL37697;NP_689716;NP_998796;NP_998797;Q9H579 Hs.349125 1339171;1691358;1691362;2137921;2157301 AL031789;AL031796;D18S997;WI-17924;Z94666 C20orf131;C20orf132;DKFZp434N0426;FLJ36113;dJ621N11.3;dJ621N11.4 OTTHUMP00000030894;OTTHUMP00000030896;OTTHUMP00000030898;OTTHUMP00000180603;hypothetical protein LOC140699;maestro heat-like repeat-containing protein family member 8;uncharacterized protein C20orf132 APPROVED protein-coding ENSG00000101353 HGNC:16125 12745 REVIEWED 1602210 MROH9 maestro heat-like repeat family member 9 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH benzo[a]pyrene; cadmium atom; paracetamol 1 1 1 q24.3 144014146 144143886 + 170904612 171033906 + 170935471 171064765 + 6480464;8554872 12477932;16344560 80133 H0Y687;Q5TGP6 ABBA01027935;ABBA01027936;ABBA01027937;ABBA01027938;ABBA01027939;AK027203;AL031965;AMYH02002129;AMYH02002130;AMYH02002131;BC113390;BC113392;BX284613;CH471067;DB096780;DB211602;DB230154;DV080473;NM_001163629;NM_025063 AAI13391;AAI13393;BAB15690;EAW90884;EAW90885;NP_001157101;NP_079339;Q5TGP6 Hs.591489 1695914;1709570;1752971;2181504 AL009360;SHGC-106855;SHGC-78870;SHGC-85137 ARMC11;C1orf129;FLJ23550 OTTHUMP00000038847;armadillo repeat containing 11;hypothetical protein LOC80133;maestro heat-like repeat-containing protein family member 9;uncharacterized protein C1orf129 APPROVED protein-coding ENSG00000117501 HGNC:26287 08672 VALIDATED 1343975 MROS Melkersson-Rosenthal syndrome ASSOCIATED WITH Melkersson-Rosenthal Syndrome (inferred) 7240710 7923865 8011 HGNC:14595 155900 1315701 MRPL1 mitochondrial ribosomal protein L1 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L1 ribosomal protein family. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 76085074 76174865 + 78783805 78873944 + 77862651 77952790 + 1580863;6480464 11042152;11279069;11543634;12477932;12706105;14702039;15489334;15815621;16368877;17207965;20186120;20379614;20877624;21139048;21145461;21832049;21890473;22939629;23667531;24816145;8889548 65008 H0Y8N7;H0YAB5;Q9BYD6 AB049474;ABBA01063375;ABBA01063376;AC112225;AC114801;AF212225;AK024791;AK315600;AMYH02009529;AMYH02009530;BC014356;BC015109;BC017765;BC032595;BU675164;BY799718;CH471057;CR457191;NM_020236;XR_244641 AAF87327;AAH14356;AAH15109;AAH17765;AAH32595;AAY41057;ADQ31830;BAB15005;BAB40180;CAG33472;EAX05820;NP_064621;Q9BYD6 Hs.532019 1338799;1769840;1770479;1847043;2183800 D4S1081;D4S2363;G01888;RH18270;SHGC-59240 BM022;FLJ96680;L1MT;MRP-L1 39S ribosomal protein L1, mitochondrial;OTTHUMP00000160703;OTTHUMP00000219156 APPROVED protein-coding ENSG00000169288 HGNC:14275 611821 REVIEWED 1315061 MRPL10 mitochondrial ribosomal protein L10 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Nov 2010] 17 17 17 q21.32 42353443 42361707 - 45900638 45908907 - 47823272 47831541 - 6480464 11543634;11551941;12477932;12706105;14733910;15489334;16169070;16344560;18029348;18854154;19913121;19948975;20186120;20379614;20628086;20877624;21832049;21906983;22939629;23402259;23535033;24250222;24816145;3129699;9857009 124995 F2Z2K7;Q7Z7H8 AB051618;ABBA01041146;AC003665;AI221522;AK127167;AK293624;AL558270;AL701268;AMYH02033528;AMYH02033529;BC015904;BC039852;BC052601;CH471109;DA137043;NM_145255;NM_148887;NR_037575 AAH15904;AAH52601;ABM82065;ABM85244;BAB54946;BAG54446;BAG57081;EAW94795;EAW94796;EAW94797;EAW94798;EAW94799;NP_660298;NP_683685;Q7Z7H8 Hs.347535 1681454;1694542;1720965;1797870;2141193;5109281 D1S1425;G43163;G59312;MRPL10_2482;RH64830;STS-AA039646 L10MT;L8mt;MGC17973;MRP-L10;MRP-L8;MRPL8;RPML8 39S ribosomal protein L10, mitochondrial;39S ribosomal protein L8, mitochondrial;OTTHUMP00000209655;OTTHUMP00000209656;OTTHUMP00000209657 APPROVED protein-coding ENSG00000159111 HGNC:14055 14738 611825 REVIEWED 1347202 MRPL11 mitochondrial ribosomal protein L11 This nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 12. [provided by RefSeq, May 2014] 11 11 11 q13.3 63522582 63526342 - 66202550 66206310 - 66435079 66438852 - 1580863;6480464 10810093;11279069;11543634;12477932;12706105;14702039;15489334;16341674;16344560;16712791;20186120;21145461;21453772;21832049;21890473;21926972;22190034;22939629;23402259;23473034;24457600;24816145;8125298 65003 E9PQB6;H0YCD5;Q9Y3B7 AB049638;AB051338;ABBA01024078;AF151871;AK127603;AK223112;AK290084;AL519939;AMYH02024979;AP002748;BC005002;BC108277;BI193255;BM554886;BM755421;BQ020382;BU597133;BU678208;CB115338;CH471076;DB317593;HB905036;HB921749;HB950868;HC962445;HC979158;HD008278;NM_016050;NM_170738;NM_170739;NR_120588;NR_120589;XM_006718666;XR_247244;XR_247672;XR_252914 AAD34108;AAH05002;AAI08278;ADZ15692;BAB40843;BAB54928;BAD96832;BAF82773;CBF84275;CBF95859;CBG10116;CBV01195;CBV09379;CBV23638;EAW74526;EAW74527;EAW74528;EAW74529;EAW74530;EAW74531;NP_057134;NP_733934;NP_733935;Q9Y3B7;XP_006718729 Hs.418450 2118635;2125534 RH12626;RH44905 CGI-113;L11MT;MGC111024;MRP-L11 39S ribosomal protein L11, mitochondrial;OTTHUMP00000235145;OTTHUMP00000235146;OTTHUMP00000235149 APPROVED protein-coding ENSG00000174547 HGNC:14042 14739 611826 REVIEWED 1606721 MRPL11P2 mitochondrial ribosomal protein L11 pseudogene 2 5 5 5 q31.3 137497049 137497467 - 141416272 141416690 - 142036707 142037125 - 12706105 134008 ABBA01026392;AC005740;AMYH02012355;AY135247;NG_002416 2125534 RH12626 pseudo HGNC:29694 INFERRED 1346497 MRPL11P3 mitochondrial ribosomal protein L11 pseudogene 3 12 12 12 q21.2 78532596 78532705 - 78867094 78867203 - 78473314 78473423 - 12706105 359734 ABBA01053523;AC068994;AMYH02026802;AY135248;NG_002850 pseudo HGNC:29695 INFERRED 1343345 MRPL12 mitochondrial ribosomal protein L12 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008] 17 17 17 q25 76315553 76319694 + 79670400 79674556 + 81703370 81707526 + 1580863;6480464 10600119;11543634;11551941;12477932;12706105;15489334;15635413;16159877;16169070;16344560;17337445;19103604;20020773;20186120;20360068;20877624;21145461;21988832;22904065;22939629;23000965;23402259;23603806;23667531;23798571;23892058;24244333;24250222;24583282;8626705;9169145 6182 P52815 AB051337;ABBA01032160;AC139530;AF059736;AF105278;AMYH02034134;BC002344;BC007497;CA310089;CH471099;DA648796;EF036488;NM_002949;U25041;X79865 AAC73110;AAD16894;AAG32154;AAH02344;AAH07497;ABO65074;BAB54927;CAA56249;EAW89680;NP_002940;P52815 Hs.109059 2118929 RH78898 5c5-2;FLJ60124;L12mt;MGC8610;MRP-L31/34;MRPL7;MRPL7/L12;RPML12 39S ribosomal protein L12, mitochondrial;MRP-L12 APPROVED protein-coding ENSG00000262814 HGNC:10378 03849 602375 REVIEWED 1351918 MRPL13 mitochondrial ribosomal protein L13 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 8 8 8 q22.1-q22.3 117597215 117646764 - 121408083 121457647 - 120395844 120445407 - 1580863;6480464 11279069;11543634;12477932;12706105;15146197;15489334;15560738;18995835;19738201;20186120;20601428;20877624;21139048;21890473;22939629;8076819 28998 E5RFI2;E5RJI7;H0YAX3;Q9BYD1 AB049640;ABBA01037836;AC107877;AF112214;AK307322;AK311924;AMYH02018684;BC009190;BC021744;BF243677;CH471060;CN362173;HB899267;HB910114;HB932238;HB949017;HB953748;HB957079;HC956676;HC967523;HC989647;HD006427;HD011158;HD014489;KF510294;NM_014078;XM_006716547 AAF17202;AAH09190;AAH21744;ABM84043;ABM84413;ABM87394;BAB40845;BAG34865;CBF78079;CBF89863;CBG00999;CBG09207;CBG11537;CBG13159;CBU98411;CBV03682;CBV14519;CBV22729;CBV25051;CBV26673;EAW92003;EAW92004;EAW92005;NP_054797;Q9BYD1;XP_006716610 Hs.333823 5125680 STS-N34296 L13;L13A;L13mt;RPL13;RPML13 39S ribosomal protein L13, mitochondrial;MRP-L13;OTTHUMP00000228247;OTTHUMP00000228248 APPROVED protein-coding ENSG00000172172 HGNC:14278 14740 610200 REVIEWED 1314744 MRPL14 mitochondrial ribosomal protein L14 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found at 17p13.3. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 45634515 45648332 - 44081372 44095191 - 44113635 44127454 - 6480464 11543634;12477932;12706105;14574404;15489334;17207965;20186120;20877624;21139048;21145461;21757650;22939629;23171548;23377640;24250222;9857009 64928 Q6P1L8 AA758781;AB051339;ABBA01050651;AK312086;AL109615;AL365192;AMYH02013655;AMYH02013656;BC010416;BC065005;BM559405;BM910935;CH471081;NM_032111;XM_005249299;XM_005249300;XM_005249301 AAH65005;ADQ33133;BAB54929;BAG35022;EAX04242;EAX04243;EAX04244;EAX04245;NP_115487;Q6P1L8;XP_005249356;XP_005249357;XP_005249358 Hs.311190 1726633;2154542;2177726 1588;G62551;RH16304 L14mt;L32mt;MGC70566;MRP-L14;MRP-L32;MRPL32;RMPL32;RPML32 39S ribosomal protein L14, mitochondrial;39S ribosomal protein L32, mitochondrial;OTTHUMP00000016500 APPROVED protein-coding ENSG00000180992 HGNC:14279 14741 611827 REVIEWED 1345632 MRPL14P1 mitochondrial ribosomal protein L14 pseudogene 1 17 17 17 p13.3 2998 3194 - 1059271 1059467 + 1155977 1156173 + 12706105 359735 ABBA01054638;AC015884;AC016292;AC107911;AMYH02032728;AY135249;NG_002851 pseudo HGNC:29696 INFERRED 1312447 MRPL15 mitochondrial ribosomal protein L15 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008] 8 8 8 q11.2-q13 51038346 51051638 + 55047781 55061074 + 54135221 54148514 + 1580863;6480464 10593885;11042152;11076863;11230166;11256614;11543634;12477932;12706105;15489334;15489336;16344560;16381901;20186120;20877624;20972266;21139048;21145461;21890473;21963094;22939629;23667531;24816145 29088 E5RHF4;E5RIZ4;Q9P015 AB051619;ABBA01041738;AC060764;AF161494;AK312832;AL136665;AMYH02018001;AMYH02018002;BC000891;BM510276;CH471068;CR533531;DA504537;NM_014175 AAF29109;AAH00891;BAB54947;BAG35686;CAB66600;CAG38562;CAL37842;EAW86747;NP_054894;Q9P015 Hs.18349 1672717;2217624 MRPL15_3130;WI-12392 HSPC145;L15mt;MRP-L15;MRP-L7;RPML7 39S ribosomal protein L15, mitochondrial;OTTHUMP00000226445;OTTHUMP00000226575 APPROVED protein-coding HGNC:14054 14742 611828 REVIEWED 1351695 MRPL15P1 mitochondrial ribosomal protein L15 pseudogene 1 15 15 15 q26.1 66698335 66699524 + 90295575 90296764 + 89752344 89753533 + 12706105 359736 ABBA01053019;AC079075;AMYH02031026;AY135250;AY135251;NG_002852 MRPL15P2 pseudo HGNC:29697 INFERRED 1354403 MRPL16 mitochondrial ribosomal protein L16 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56936350 56941087 - 59573608 59578345 - 59806135 59810872 - 6480464 11279069;11543634;11551941;12477932;12706105;14702039;15489334;17207965;20186120;20360068;20877624;21139048;21565611;22939629;24816145 54948 E9PI14;Q9NX20 AA454132;AB049642;ABBA01021509;AF183428;AF275806;AK000491;AMYH02024868;AP000640;BC001040;BC019269;CA428594;CH471076;CR457117;FB746679;NM_017840 AAG09697;AAG23818;AAH01040;AAH19269;ADQ31701;BAA91202;BAB40847;CAG33398;CAT04647;EAW73858;EAW73859;NP_060310;Q9NX20 Hs.530734 1652719;1667717;1797872;2139208 A007C17;D11S4654;MRPL16_2479;WI-13345 FLJ20484;L16mt;MRP-L16;PNAS-111 39S ribosomal protein L16, mitochondrial;OTTHUMP00000235889 APPROVED protein-coding ENSG00000166902 HGNC:14476 14743 611829 REVIEWED 1351017 MRPL17 mitochondrial ribosomal protein L17 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 11 11 11 p15.5-p15.4 6820715 6823731 - 6701616 6704632 - 6680385 6683401 - 6480464 10593885;10931946;11543634;11984006;12477932;12706105;14702039;15489334;16344560;18162190;20186120;20877624;21139048;22082156;22939629;24250222;8889548 63875 E9PKV2;Q9NRX2 AB051620;ABBA01028671;AC091564;AF141338;AF164797;AK026857;AL572779;AMYH02024272;BC012306;BF513148;BM725086;BQ066780;CH471064;CR457177;DA876701;DB228622;NM_022061 AAF80761;AAG49441;AAH12306;ABM82507;ABM85700;ABM85962;BAB15575;BAB54948;CAG33458;EAW68681;EAW68682;NP_071344;Q9NRX2 Hs.523456;Hs.708782 1652979;1655632;1664879;1686456;2147138;2219172 MRPL17_3129;RH41797;RH98881;SGC33125;STS-AA039615;STS-T56255 L17mt;LIP2;MRP-L17;MRP-L26;RPL17L;RPML26 39S ribosomal protein L17, mitochondrial;LYST-interacting protein 2;LYST-interacting protein LIP2;OTTHUMP00000230003 APPROVED protein-coding ENSG00000158042 HGNC:14053 10096 611830 REVIEWED 1314973 MRPL18 mitochondrial ribosomal protein L18 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L18P ribosomal protein family. Three polymorphic sites exist in this gene, one of which is three nt in length which causes an extra aa near the N-terminus. [provided by RefSeq, Jul 2008] 6 6 6 q25.3 160857576 160865535 + 160211492 160219461 + 159790460 159798429 + 1580863;6480464 11042152;11076863;11230166;11256614;11543634;11551941;12477932;12706105;15489334;15489336;16381901;20186120;20360068;20877624;21139048;21906983;22904065;23402259 29074 Q9H0U6 ABBA01021060;AF161556;AK311391;AL135914;AL136633;AL139045;AMYH02014873;BC001623;BU932963;CB529016;CH471051;CR533491;NM_014161;XM_006715466 AAF29043;AAH01623;CAB66568;CAG38522;CAL38650;EAW47614;EAW47615;NP_054880;Q9H0U6;XP_006715529 Hs.416998 1698894;2217626 MRPL18_2880;RH103015 HSPC071;L18mt;MRP-L18 39S ribosomal protein L18, mitochondrial;OTTHUMP00000017534 APPROVED protein-coding ENSG00000112110 HGNC:14477 14744 611831 REVIEWED 1349255 MRPL19 mitochondrial ribosomal protein L19 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 2 2 2 p11.1-q11.2 75705190 75720614 + 75873909 75889334 + 75613881 75671918 + 1580863;6480464 10600119;10942595;11279069;11543634;12477932;12706105;15489334;15815621;17137291;17309879;18157088;19953087;20186120;20379614;20846247;20877624;21139048;21145461;21832049;22904065;22939629;23402259;23954868;24816145;7788527;9847074 9801 H7C2J0;P49406;S4R3W9;S4R455 AB051621;ABBA01075624;AC005034;AK291250;AK295578;AL157503;AMYH02004097;BC021051;BC030144;BI551514;BQ432684;CH471053;D14660;HG494226;NM_014763;XM_006712155;XR_427001 AAH30144;AAY14972;ABM83229;ABM86428;BAA03494;BAB54949;BAF83939;BAG58476;EAW99590;NP_055578;P49406;XP_006712218 Hs.44024 1652963;1677244;1678807;1691080;1796340;1855896;2170849;2171607;2181482 A005D43;MRPL19_1324;RH17376;RH25331;RH47897;RH69443;RH91833;RH99131;SHGC-24037 KIAA0104;L15mt;L19mt;MGC20675;MRP-L15;MRP-L19;MRPL15;RLX1;RP11-342K6.1;RPML15 39S ribosomal protein L15, mitochondrial;39S ribosomal protein L19, mitochondrial;OTTHUMP00000160451;OTTHUMP00000202782 APPROVED protein-coding HGNC:14052 11370 611832 REVIEWED 1316168 MRPL2 mitochondrial ribosomal protein L2 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] 6 6 6 p21.3 44574010 44579485 - 43021767 43028259 - 43054029 43060515 - 1580863;6480464;8554872 10593885;10810093;11543634;12477932;12706105;14574404;15489334;17207965;18029348;20186120;20877624;21139048;21145461;21906983;21988832;22939629;23473034 51069 C9IY40;C9J5E0;C9JZG7;C9JZW2;Q5T653 AA627551;AB051617;ABBA01050696;AF086160;AF132956;AK301041;AK314948;AL355385;AMYH02013638;BC013685;BC020212;BM563754;BM970997;CH471081;HY043564;NM_001300848;NM_015950;XM_005249161;XM_005249162 AAD27731;AAH13685;AAH20212;ADQ31732;BAB54945;BAG37453;BAG62654;EAX04150;EAX04151;EAX04152;EAX04153;NP_001287777;NP_057034;Q5T653;XP_005249218;XP_005249219 Hs.55041 2217628;5096732 MRPL2_2872;SHGC-57482 CGI-22;L2mt;MRP-L14;MRP-L2;RPML14 39S ribosomal protein L2, mitochondrial;OTTHUMP00000016419;OTTHUMP00000216922 APPROVED protein-coding ENSG00000112651 HGNC:14056 14745 611822 REVIEWED 1319575 MRPL20 mitochondrial ribosomal protein L20 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. [provided by RefSeq, Jul 2008] 1 1 1 p36.3-p36.2 1238564 1243981 + 1337276 1342693 - 1401896 1407313 - 1580863;6480464 11181995;11279069;11543634;11551941;12477932;12706105;14702039;15489334;16169070;16710414;20186120;20601428;20877624;21139048;21832049;21890473;21900206;21906983;21963094;22505724;22939629;23000965;24457600;24816145 55052 I3L2X1;Q9BYC9 AB049644;ABBA01016038;AC026283;AK000886;AK301440;AK315794;AL391244;AMYH02000097;AW015403;BC009515;BC014316;BC059945;BG700526;CH471183;NM_017971;XM_005244767;XM_005244768 AAH09515;AAH14316;AAH59945;BAA91406;BAB40849;BAG38138;BAH13482;EAW56206;EAW56207;EAW56208;NP_060441;Q9BYC9;XP_005244824;XP_005244825 Hs.182698 1678211;1700220;1766309;2117581;2145235 RH103727;SHGC-149656;SHGC-192;SHGC-74086;WIAF-2083 L20mt;MGC4779;MGC74465;MRP-L20 39S ribosomal protein L20, mitochondrial;OTTHUMP00000002947 APPROVED protein-coding ENSG00000242485 HGNC:14478 14746 611833 REVIEWED 2293807 MRPL20P1 mitochondrial ribosomal protein L20 pseudogene 1 21 21 21 q22.2 23565252 23565929 + 38366858 38367548 + 36994558 36995248 + 12706105 359737 ABBA01057408;AMYH02037793;AP000704;AY135253;NG_002853 pseudo HGNC:29699 INFERRED 1320967 MRPL21 mitochondrial ribosomal protein L21 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008] 11 11 11 q13.3 65998605 66010817 - 68658744 68671303 - 68891276 68903835 - 1580863;6480464 11551941;11943462;12477932;12706105;14702039;15489334;17207965;20877624;21139048;21145461;21890473;21906983;22904065;22939629;23473034;24816145 219927 B4DXI4;F5H3L0;F5H4R5;F5H7V8;H3BUY0;Q7Z2W9 ABBA01023977;AK096756;AK301989;AMYH02025027;AP000808;AV711404;BC055088;BM916618;CH471076;NM_181514;NM_181515;XM_005273823;XR_247190 AAH55088;ADQ32139;BAG63396;EAW74724;EAW74725;EAW74726;EAW74727;EAW74728;NP_852615;NP_852616;Q7Z2W9;XP_005273880 Hs.503047 5108135 RH15743 L21mt;MGC62013;MRP-L21 39S ribosomal protein L21, mitochondrial;OTTHUMP00000237199;OTTHUMP00000237200;OTTHUMP00000238413 APPROVED protein-coding ENSG00000197345 HGNC:14479 14747 611834 REVIEWED 1319534 MRPL22 mitochondrial ribosomal protein L22 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q33.2 150397493 150425833 + 154320633 154348971 + 154941073 154969411 + 1580863;6480464 11042152;11543634;11551941;11943462;12477932;12706105;14702039;15342556;15489334;17207965;20020773;20186120;20379614;20877624;21139048;21890473;21906983;21963094;22904065;22939629;23000965;23864651;8889548;9857009 29093 E7ESL0;H0YBZ7;J3KQY1;Q9NWU5 AB051622;ABBA01026217;AC008410;AC008421;AF161507;AK000601;AK097880;AK302784;AMYH02012513;BC012565;BM662504;BP372420;BU943770;CH471062;CR933679;FB342957;FB711080;NM_001014990;NM_014180 AAF29122;AAH12565;ADQ32414;BAA91282;BAB54950;BAG63988;CAI45973;CAR81479;CAS91495;EAW61622;NP_001014990;NP_054899;Q9NWU5 Hs.483924 1647036 SHGC-32594 DKFZp781F1071;HSPC158;L22mt;L25mt;MRP-L22;MRP-L25;RPML25 39S ribosomal protein L22, mitochondrial;39S ribosomal protein L25, mitochondrial;OTTHUMP00000160693;OTTHUMP00000226009;OTTHUMP00000226010;OTTHUMP00000226011 APPROVED protein-coding ENSG00000082515 HGNC:14480 14748 611835 REVIEWED 4144481 MRPL22P1 mitochondrial ribosomal protein L22 pseudogene 1 4 4 4 q12 54693198 54693885 - 57186813 57187500 - 56320647 56321334 - 12706105 359738 ABBA01003421;AC068620;AMYH02009256;AY135254;NG_002854 2166738;2185133 D4S260;G34122 pseudo HGNC:29700 INFERRED 68481 MRPL23 mitochondrial ribosomal protein L23 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 2007763 2016982 + 1968502 2007295 + 1947272 1956609 + 1302322;1580863;6480464 8541832 11279069;11543634;11943462;12477932;12706105;15146197;15489334;17242401;18976975;19304784;19615732;20186120;20877624;21139048;21988832;22354994;22779921;22939629;23725790;23936387;8889548 6150 A6NJD9;A8MVT4;A8MYK1;H7C2P7;Q16540 AB051340;ABBA01012169;AC051649;AK128774;AK313805;AMYH02024185;BC027710;BM670857;CH471158;CN310387;NM_021134;U26596;XM_006718271;Z49254 AAC50415;AAH27710;BAB54930;BAG36541;CAA89220;EAX02472;EAX02473;NP_066957;Q16540;XP_006718334 Hs.3254 1798794;1799220;1799354;1799922;1800506;1801582;1802252;1802612;1802920;1803398;1803510;1803712;1804072;1809778;1811008;1811458;1833756;2090070;2090072;2090074;2090076;2090078;2090080;2090082;2090084;2090086;2090088;2090090;2090092;2090094;2090096;2090098;2090100;2090102;2090104;2090106;2090108;2090110;2090112;2090114;2090116;2090118;2090120;2090122;2090124;2090126;2090128;2090130;2090132;2090134;2090136;2090138;2090140;2090142;2090144;2090146;2090148;2090150;2090152;2090154;2090156;2090280;2090282;2090284;2090286;2090288;2090290;2090292;2090294;2090296;2090298;2090300;2090302;2090304;2090306;2090308;2090310;2216542;2216544;2216546;2216548;2216550;2216552;2216554;2216556;2216580;5017003;5094560;5100492;5108339 D21S249E;ECD00237;ECD00458;ECD00526;ECD00815;ECD01113;ECD01669;ECD02010;ECD02193;ECD02349;ECD02596;ECD02656;ECD02762;ECD02953;ECD05881;ECD06502;ECD06729;ECD18023;REN116310;REN116311;REN116312;REN116313;REN116314;REN116315;REN116316;REN116317;REN116318;REN116319;REN116320;REN116321;REN116322;REN116323;REN116324;REN116325;REN116326;REN116327;REN116329;REN116330;REN116331;REN116332;REN116333;REN116334;REN116335;REN116336;REN116337;REN116338;REN116339;REN116340;REN116341;REN116342;REN116343;REN116344;REN116345;REN116346;REN116347;REN116348;REN116349;REN116350;REN116351;REN116352;REN116353;REN116354;REN116416;REN116417;REN116418;REN116419;REN116420;REN116421;REN116422;REN116423;REN116424;REN116425;REN116426;REN116427;REN116428;REN116429;REN116430;REN116431;REN116432;stSG548584;stSG548586;stSG548587;stSG548588;stSG548589;stSG548590;stSG548591;stSG548592;stSG548605;stSG548606;stSG548607 FLJ45387;L23MRP;L23mt;MRP-L23;RPL23;RPL23L 39S ribosomal protein L23, mitochondrial;L23 mitochondrial-related protein;OTTHUMP00000014439;OTTHUMP00000014440;OTTHUMP00000069610;OTTHUMP00000195522;OTTHUMP00000199809;ribosomal protein L23-like;ribosomal protein related to L23 (mitochondrial) APPROVED protein-coding ENSG00000214026 HGNC:10322 02876 600789 REVIEWED 5487919 MRPL23-AS1 MRPL23 antisense RNA 1 11 11 11 p15.5 2043566 2050277 - 2004439 2011150 - 1983209 1989920 - 11181995 100133545 ABBA01012169;AC051649;AMYH02024185;CH471158;HG503444;NR_024471 EAX02475 Hs.677620 1799704;1800622;1801504;1802144;1805328;1805864;1807100;1829890;2090346;2090348;2090350;2090352;2090354;2090356;2090358;2090360;2090362;2090364;2090366;2090368;2090370;2090372;2090374;2090376;2090378;2090380;2090382;2090384;2090386;2090388;2090390;2090392;2090394;2090396;2090398;2090400;2090402;2090404;2090406;2216590;2216592;2216594;2216596;2216598;2216600;2216602 ECD00706;ECD01172;ECD01628;ECD01954;ECD03611;ECD03885;ECD04515;ECD16078;REN116450;REN116451;REN116452;REN116453;REN116454;REN116455;REN116456;REN116457;REN116458;REN116459;REN116460;REN116461;REN116462;REN116463;REN116464;REN116465;REN116466;REN116467;REN116468;REN116469;REN116470;REN116471;REN116472;REN116473;REN116474;REN116475;REN116476;REN116477;REN116478;REN116479;REN116480;stSG548612;stSG548613;stSG548614;stSG548615;stSG548616;stSG548617;stSG548618 AC051649.7 APPROVED ncrna ENSG00000226416 HGNC:42812 VALIDATED 1344820 MRPL24 mitochondrial ribosomal protein L24 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 129778326 129782155 - 156707094 156710923 - 156737302 156741131 - 6480464 10751423;11543634;12477932;12706105;14702039;15489334;16710414;18976975;20186120;20360068;20877624;21139048;21145461;21832049;22939629;23402259;23443559;23473034;24250222;8125298 79590 Q96A35;X6RHI2;X6RIR5;X6RJ73 AA730909;AB051341;ABBA01016647;AK024570;AK222500;AK223066;AL590666;AMYH02001979;BC012440;BC016700;BG706700;CH471121;CR457329;NM_024540;NM_145729 AAH12440;AAH16700;BAB14929;BAB54931;BAD96220;BAD96786;CAG33610;EAW52913;EAW52914;NP_078816;NP_663781;Q96A35 Hs.418233 1644303;1670958;1767401;1777367;1781482;1849422;2130503 G16300;RH11678;RH17641;SHGC-12542;SHGC-132399;SHGC-2664;SHGC-33059 FLJ20917;L24mt;MGC22737;MGC9831;MRP-L18;MRP-L24 39S ribosomal protein L24, mitochondrial;OTTHUMP00000038724;OTTHUMP00000038725;OTTHUMP00000038728 APPROVED protein-coding ENSG00000143314 HGNC:14037 14749 611836 REVIEWED 1354168 MRPL25 mitochondrial ribosomal protein L25 HGNC:14481 1351315 MRPL26 mitochondrial ribosomal protein L26 HGNC:14482 1319233 MRPL27 mitochondrial ribosomal protein L27 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 17 17 17 q21.3-q22 44906525 44911851 - 48445228 48450562 - 50367867 50373201 - 1580863;6480464 11042152;11279069;11543634;12477932;12706105;14702039;15489334;15576338;16196087;16341674;20186120;20877624;21139048;21832049;21890473 51264 B3KN43;D6RAN8;D6RE11;H7C5U8;Q9P0M9 AB049647;ABBA01041239;AC004707;AC015909;AF151084;AK023576;AK315758;AMYH02033589;BC001066;BC021986;BG829493;BM840463;CH471109;CS072286;CS072314;NM_016504 AAF36170;AAH01066;AAH21986;BAB40852;BAG38111;BAG51205;CAI93424;CAI93452;EAW94622;EAW94623;EAW94624;NP_057588;Q9P0M9 Hs.7736 1797874;2124776;2167951 MRPL27_1920;NIB1385;WI-14315 L27mt;MGC23716 39S ribosomal protein L27, mitochondrial;MRP-L27;OTTHUMP00000221162;OTTHUMP00000221163;OTTHUMP00000221164;OTTHUMP00000221194;OTTHUMP00000221195 APPROVED protein-coding ENSG00000108826 HGNC:14483 14750 611837 REVIEWED 1349308 MRPL28 mitochondrial ribosomal protein L28 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein, a part of which was originally isolated by its ability to recognize tyrosinase in an HLA-A24-restricted fashion. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 617353 621092 - 417384 420584 - 367384 370584 - 1580863;6480464 11157797;11543634;11551941;12477932;12706105;14702039;15489334;15616553;16169070;16537434;17207965;18029348;19753307;20186120;20601428;20877624;21139048;21145461;21832049;21890473;22939629;23402259;23473034;7751637;8125298;9672845 10573 A2IDC5;A2IDC6;A2IDC7;Q13084;Q4TT37;Q4TT38 ABBA01030376;AE006463;AK096844;AK226042;AK315180;AMYH02031191;BC000507;BC000990;BC013829;BI833047;BI862386;BM967049;BT009857;BX647501;CH471112;CR541751;DB469296;NM_006428;U19796;XM_005255040;XM_005255041;Z97634 AAC50181;AAH00507;AAH00990;AAK61226;AAP88859;ADQ31619;BAG37621;CAG46551;EAW85827;EAW85828;EAW85829;EAW85830;EAW85831;EAW85832;EAW85833;EAW85834;NP_006419;Q13084;XP_005255097;XP_005255098 Hs.513230 1808952;1810250;1810252;1811872;1812166;1812518;2049148;2049150;2049152;2049154;2049156;2049158;2049160;2049162;2049164;2049166;2049168;2049170;2049172;2049174;2049176;2049178;2049180;2049182;2049184;2049186;2049188;2049190;2049192;2104712;2115804;2137970;2161675;2165274 ECD05459;ECD06117;ECD06118;ECD06940;ECD07089;ECD07269;NIB1488;REN95715;REN95716;REN95717;REN95718;REN95719;REN95720;REN95721;REN95722;REN95723;REN95724;REN95725;REN95726;REN95727;REN95728;REN95729;REN95732;REN95733;REN95734;REN95735;REN95736;REN95737;REN95738;REN95739;RH15994;RH45380;STS-AA029713;stSG609076 L28mt;MAAT1;MGC8499;MRP-L28;p15 39S ribosomal protein L28, mitochondrial;OTTHUMP00000045638;OTTHUMP00000067336;OTTHUMP00000067337;OTTHUMP00000067338;OTTHUMP00000194920;OTTHUMP00000194921;OTTHUMP00000194923;melanoma antigen p15;melanoma-associated antigen recognised by cytotoxic T lymphocytes;melanoma-associated antigen recognized by T lymphocytes;melanoma-associated antigen recognized by T-lymphocytes APPROVED protein-coding ENSG00000086504 HGNC:14484 604853 REVIEWED 1345650 MRPL29 mitochondrial ribosomal protein L29 HGNC:14485 1349501 MRPL2P1 mitochondrial ribosomal protein L2 pseudogene 1 12 12 12 q21.33 89818354 89819295 + 90146688 90147629 + 89752911 89753852 + 12706105 347894 ABBA01053416;AC009522;AMYH02026905;AY135252;NG_002838 pseudo HGNC:29698 INFERRED 1314981 MRPL3 mitochondrial ribosomal protein L3 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008] 3 3 3 q21-q23 129607070 129647849 - 131181045 131221860 - 131462201 131503016 - 1580863;6480464;8699517;8554872;7240710 11543634;12477932;12706105;15489334;17207965;20186120;20877624;21139048;21145461;21786366;21832049;21906983;22507240;22904065;22939629;23892058;24816145;2891103 11222 B4DW56;D6RBQ5;D6RC14;E7ETU7;E9PF06;H0Y9G6;P09001 AB051336;ABBA01059194;AC107027;AK296626;AK301377;AMYH02007673;BC003375;BI490082;BM992835;CH471052;CR456720;DC398662;NG_029207;NM_007208;X06323 AAH03375;ADQ32733;BAB54926;BAG59232;BAG62918;CAA29639;CAG33001;EAW79209;NP_009139;P09001 Hs.205163 1334828;1660713;1662171;1679017;1703574;2160408;2168618 D3S3348;D3S3548;SHGC-2622;SHGC-77342;SHGC-82784;STS-X06323;WI-19202 COXPD9;L3mt;MRL3;MRP-L3;RPML3 39S ribosomal protein L3, mitochondrial;OTTHUMP00000215980;OTTHUMP00000216012;OTTHUMP00000216013;mitochondrial 60S ribosomal protein L3;ribosomal protein, mitochondrial, L3 APPROVED protein-coding ENSG00000114686 HGNC:10379 06175 607118;614582 REVIEWED 1317834 MRPL30 mitochondrial ribosomal protein L30 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstream lipoyltransferase 1 (LIPT1) gene. [provided by RefSeq, Mar 2011] 2 2 2 q11.2 94002173 94018689 + 99797542 99816020 + 99181079 99199557 + 1580863;6480464;8554872 11042152;11543634;12477932;12706105;14702039;15489334;15815621;16344560;17207965;20877624;21890473;21926972;22939629;8125298;9857009 51263 B8ZZV5;Q8TCC3 AB051342;ABBA01073951;AC079447;AC092587;AK025547;AK225894;AMYH02004398;BC000217;BC013822;BC022391;BG532984;BU154006;BU533068;DA310406;DB353963;NM_145212;NR_028356 AAH00217;AAH22391;AAX88929;ADQ32227;BAB54932;NP_660213;Q8TCC3 Hs.346736 1656222;1740619;2131633;5014740;5015961;5016596;5022578 D15S1156;D15S1477;D17S610;D1S1423;D2S2886;GDB:631802;WI-20419 FLJ44438;L28MT;L30MT;MGC24095;MGC3314;MRP-L28;MRP-L30;MRPL28;MRPL28M;RPML28 39S ribosomal protein L28, mitochondrial;39S ribosomal protein L30, mitochondrial;OTTHUMP00000161222;OTTHUMP00000203467;OTTHUMP00000203469;OTTHUMP00000203471 APPROVED protein-coding ENSG00000241962 HGNC:14036 14751 611838 REVIEWED 4144490 MRPL30P1 mitochondrial ribosomal protein L30 pseudogene 1 6 6 6 p12.1 58557448 58557818 + 56894294 56894664 + 57029496 57029866 + 12706105 359740 ABBA01050487;AL450489;AMYH02013783;AY135257;NG_002856 pseudo HGNC:29702 INFERRED 4144506 MRPL30P2 mitochondrial ribosomal protein L30 pseudogene 2 12 12 12 p11.2 11451951 11452332 + 31630410 31630791 + 31477476 31477857 + 12706105 359817 ABBA01031748;AC022080;AMYH02026276;AY135258;AY135259;NG_002912 1684754 RH94231 MRPL30P3 pseudo HGNC:29703 INFERRED 1350315 MRPL31 mitochondrial ribosomal protein L31 HGNC:14486 1321503 MRPL32 mitochondrial ribosomal protein L32 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq, Jul 2008] 7 7 7 p14 42962246 42967760 + 42971804 42977456 + 42932205 42937857 + 1580863;6480464 11279069;11543634;11551941;12446740;12477932;12690205;12706105;14702039;15489334;16341674;17207965;20186120;20877624;22939629;24250222;8889548 64983 A4D1V4;B3KQX1;H7BZU9;Q9BYC8 AB049649;AB051343;ABBA01058178;AC010132;AF161401;AK090551;AK313393;AMYH02015604;BC013147;BM833110;BU687817;CH236951;CH471073;DB456673;NM_031903;XR_242098 AAF28961;AAH13147;ADQ32804;BAB40854;BAB54933;BAG36191;BAG52183;EAL24006;EAW94154;EAW94155;EAW94156;EAW94157;NP_114109;Q9BYC8 Hs.50252 1683180;1787760;1854881;2122589;2122591;2142661;2148204;2217630 GDB:6028662;MRPL33_3249;RH65255;SHGC-173382;SHGC-2530;SHGC-2621;SHGC-32690;SHGC-32714 HSPC283;L32mt;MRP-L32;bMRP-59b 39S ribosomal protein L32, mitochondrial;OTTHUMP00000207368 APPROVED protein-coding ENSG00000106591 HGNC:14035 14752 611839 REVIEWED 4144488 MRPL32P1 mitochondrial ribosomal protein L32 pseudogene 1 X X X p11.23 53224000 53224263 + 48441481 48441744 - 48583093 48583356 - 12706105 359741 AC115618;AMYH02039304;AY135260;NG_002857 pseudo HGNC:29704 INFERRED 1343335 MRPL33 mitochondrial ribosomal protein L33 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 2 p21 27839861 27847885 + 27994584 28002608 + 27771717 27779741 + 1580863;6480464 11042152;11279069;11543634;12477932;12706105;15489334;15815621;20877624;22581228;22990118;24816145;9653160 9553 F8WF37;O75394 AA836397;AB051623;ABBA01045221;AC074091;AC110084;AF047440;AMYH02003483;BC009475;BC020834;BC087846;BC090047;BI601959;CH471053;CR456888;CR542117;NM_004891;NM_145330 AAC39891;AAH09475;AAH20834;AAH90047;AAX93204;BAB54951;CAG33169;CAG46914;EAX00552;EAX00553;NP_004882;NP_663303;O75394 Hs.515879 1680038;1718479;1720153;1734724;2124503;2165799;5113156 A006U25;D2S1513E;RH122441;RH123855;RH41957;RH93441;SHGC-33508 C2orf1;L33mt;MGC111093;MGC13694;MGC23922;MRP-L33;RPL33L 39S ribosomal protein L33, mitochondrial;OTTHUMP00000123443;OTTHUMP00000200849;ribosomal protein L33-like APPROVED protein-coding ENSG00000243147 HGNC:14487 14753 610059 REVIEWED 1345591 MRPL34 mitochondrial ribosomal protein L34 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 17318207 17319381 + 17413616 17417652 + 17305668 17306843 + 1580863;6480464 10600119;11279069;11543634;12477932;12706105;15489334;20877624;21832049 64981 M0R093;M0R226;Q9BQ48 AB049652;ABBA01051192;AC010463;AMYH02035702;AX588175;AX588505;BC000071;BC021801;CH471106;CS072381;NM_023937 AAH00071;AAH21801;ADZ15942;BAB40857;CAD61400;CAD61561;CAI93519;EAW84590;EAW84591;EAW84592;NP_076426;Q9BQ48 Hs.515242 2131851;2217632 Bdy34a04;MRPL34_3082 L34mt;MGC24974;MGC2633 39S ribosomal protein L34, mitochondrial;MRP-L34 APPROVED protein-coding ENSG00000130312 HGNC:14488 14754 611840 REVIEWED 1316034 MRPL35 mitochondrial ribosomal protein L35 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008] 2 2 2 p11.2 86254688 86268612 + 86426478 86440913 + 86199355 86213790 + 6480464 11042152;11543634;11551941;12477932;12706105;15489334;16344560;17207965;20877624;21832049;7757816 51318 D3YTC1;Q9NZE8;S4R348 ABBA01075775;AC009309;AF208849;AK026220;AK074352;AK314555;AK314577;AL832982;AMYH02004192;BC020651;BG108475;BQ421154;BQ879834;BU195549;CH471053;DA413384;DA443416;DB245340;F11007;H11039;NM_016622;NM_145644;XM_005264361 AAF64263;AAH20651;ADQ32163;BAG37140;BAG37154;CAH56349;EAW99459;EAW99460;EAW99461;NP_057706;NP_663619;Q9NZE8;XP_005264418 Hs.433439 1662241;1768672;1796342;1852399;2127587 D2S2907;MRPL35_1401;RH16635;SHGC-36608;WI-21927 L35mt;MRP-L35 39S ribosomal protein L35, mitochondrial;OTTHUMP00000035511;OTTHUMP00000035512;OTTHUMP00000203313 APPROVED protein-coding ENSG00000132313 HGNC:14489 14755 611841 REVIEWED 4144489 MRPL35P1 mitochondrial ribosomal protein L35 pseudogene 1 6 6 6 q23 15189116 15189487 + 13949326 13949697 + 13949095 13949466 + 12706105 359742 ABBA01022138;AL138718;AMYH02013144;AY135261;NG_002858 pseudo HGNC:29705 INFERRED 4144487 MRPL35P2 mitochondrial ribosomal protein L35 pseudogene 2 10 10 10 q21.3 58661704 58662074 - 65394217 65394587 - 63634457 63634827 - 12706105 359743 ABBA01019505;AC022387;AMYH02023205;AY135262;NG_002859 1674184;5093826 A009X23;G32946 pseudo HGNC:29706 INFERRED 1345132 MRPL35P3 mitochondrial ribosomal protein L35 pseudogene 3 10 10 10 q22.2 69573453 69573822 + 76287342 76287711 + 74527584 74527953 + 12706105;359744 359744 ABBA01020284;AC022540;AMYH02023350;AY135263;NG_002860;NG_030484 1674184;5093826 A009X23;G32946 pseudo HGNC:23731 INFERRED 4144479 MRPL35P4 mitochondrial ribosomal protein L35 pseudogene 4 X X X p22.31 16977187 16977555 - 12863181 12863549 - 12845062 12845430 - 12706105 359745 ABBA01071039;AC005859;AMYH02038886;AY135264;NG_002861 pseudo HGNC:29707 INFERRED 1314956 MRPL36 mitochondrial ribosomal protein L36 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 2p. [provided by RefSeq, Jul 2008] 5 5 5 p15.3 1835163 1836620 - 1798499 1799956 - 1798385 1799842 - 1580863;6480464 10931946;11279069;11329013;11543634;12477932;12706105;15489334;16462773;17207965;18624398;19318571;20877624;21963094;24250222 64979 D6RB74;Q9P0J6 AB049654;ABBA01034196;AC026443;AF151109;AF155653;AK312001;AMYH02010770;BC020642;BC104652;BG185418;CH471102;DW465815;EF036487;NG_013354;NM_032479 AAF04788;AAF67010;AAH20642;AAI04653;ABO65073;ADQ32162;BAB40859;BAG34939;EAX08144;EAX08145;NP_115868;Q9P0J6 Hs.719465 1679457 RH41240 BRIP1;L36mt;MGC104245;MRP-L36;PRPL36;RPMJ 39S ribosomal protein L36, mitochondrial;BRCA1-interacting protein 1;OTTHUMP00000115431;OTTHUMP00000220656;OTTHUMP00000220657;OTTHUMP00000220658;OTTHUMP00000220659;putative BRCA1-interacting protein APPROVED protein-coding ENSG00000171421 HGNC:14490 14756 611842 REVIEWED 1345200 MRPL36P1 mitochondrial ribosomal protein L36 pseudogene 1 2 2 2 p13.2 70180394 70180991 + 70329621 70330218 + 70102489 70103086 + 12706105 285003 ABBA01075522;AC016700;AMYH02004035;AY135265;NG_002831 pseudo HGNC:29708 INFERRED 1348769 MRPL37 mitochondrial ribosomal protein L37 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 1 1 1 p32.1 52953467 52971687 + 54665840 54691407 + 54200167 54226682 + 724579;6480464 10600119 11042152;11543634;12477932;12706105;15489334;15562971;16710414;17207965;17643375;18029348;20186120;20639865;20877624;21139048;21145461;21890473;21900206;21906983;21963094;22354994;22939629;23314748;23402259;23793025;24654937;24816145 51253 A6NHR2;H0Y4J2;Q9BZE1;S4R369 AB051344;ABBA01074726;AF151069;AF325707;AI245012;AK024572;AK026171;AL161644;AL357673;AMYH02001046;AY421759;BC000041;CH471059;DQ205685;NM_016491;XM_005270920 AAF36155;AAG52881;AAH00041;AAR38839;ABA27099;ADQ31709;BAB54934;EAX06694;EAX06695;EAX06696;EAX06697;EAX06698;NP_057575;Q9BZE1;XP_005270977 Hs.584908 L2mt;L37mt;MGC878;MRP-L2;MRP-L37;MRPL2;RPML2 39S ribosomal protein L2, mitochondrial;39S ribosomal protein L37, mitochondrial;OTTHUMP00000009810;ribosomal protein, mitochondrial, L2 APPROVED protein-coding ENSG00000116221 HGNC:14034 14757 611843 REVIEWED 1345251 MRPL37P1 mitochondrial ribosomal protein L37 pseudogene 1 18 18 18 q21.31 53074039 53075285 + 56357588 56358834 + 58690356 58691602 + 100420950;387614 ABBA01056155;AC104971;AMYH02034814;NG_026336;NG_033893 HsT4307 pseudo HGNC:31003 INFERRED 1322502 MRPL38 mitochondrial ribosomal protein L38 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 70484775 70491232 - 73894724 73901181 - 75898643 75905100 - 6480464;8554872 11347906;11543634;12477932;12706105;14702039;15489334;16169070;16344560;17207965;18029348;20562859;21139048;21890473;22113938;22797925;22904065;22939629;23402259;23443559;23455924 64978 Q96DV4 AB051345;ABBA01028767;AC087289;AF161380;AI126946;AK313283;AMYH02034001;BC013311;BC034460;CH471099;DB289191;NM_032478 AAF28940;AAH13311;ADQ31695;BAB54935;BAG36091;EAW89338;EAW89339;EAW89340;NP_115867;Q96DV4 Hs.442609 1652955;1684206;1689799;1736634;1783574;1787860;2121563;5091927 D17S1475E;RH15963;RH46079;RH78964;RH79813;SHGC-132666;SHGC-155088;SHGC-37061 FLJ13996;HSPC262;KIAA1863;L38MT;MGC4810;MRP-L3;MRP-L38;RPML3 39S ribosomal protein L38, mitochondrial;OTTHUMP00000202830 APPROVED protein-coding ENSG00000204316 HGNC:14033 14758 611844 REVIEWED 1348143 MRPL39 mitochondrial ribosomal protein L39 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008] 21 21 21 q21.3 12141379 12163216 - 26957968 26979801 - 25585656 25607489 - 1580863;6480464 10593885;11167009;11543634;11943462;12477932;12706105;14702039;15489334;19615732;20186120;20877624;21139048;21145461;21890473;21906983;22354994;22939629;23402259;23443559;23667531;24816145;8125298 54148 C9JG87;Q9NYK5 AB051346;ABBA01057210;AF109357;AF239727;AF270511;AK000458;AK225878;AMYH02037647;AP000223;BC004896;BC107719;BE865858;BQ719968;CD368044;CH471079;NM_017446;NM_080794;XM_006724026 AAF44696;AAH04896;AAI07720;AAK12856;AAQ13505;BAA91177;BAB54936;EAX09979;EAX09980;EAX09981;EAX09982;NP_059142;NP_542984;Q9NYK5;XP_006724089 Hs.420696 1698016 RH102537 C21orf92;FLJ20451;L39mt;L5mt;MGC104174;MGC3400;MRP-L39;MRP-L5;MRPL5;MSTP003;PRED22;PRED66;RPML5 39S ribosomal protein L39, mitochondrial;39S ribosomal protein L5, mitochondrial;OTTHUMP00000095990;OTTHUMP00000095991;OTTHUMP00000095992 APPROVED protein-coding ENSG00000154719 HGNC:14027 11371 611845 REVIEWED 4144483 MRPL3P1 mitochondrial ribosomal protein L3 pseudogene 1 13 13 13 q12.11 940085 941780 - 19878205 19879900 - 19304065 19305760 - 12706105 359739 ABBA01068552;AL356259;AMYH02027612;AY135256;NG_002855 1758509 SHGC-148527 pseudo HGNC:29701 INFERRED 1323408 MRPL4 mitochondrial ribosomal protein L4 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 10258038 10266134 + 10362640 10370736 + 10251964 10260060 + 1580863;6480464 10810093;11279069;11543634;12477932;12706105;15231747;15489334;16169070;16189514;19773279;20186120;20877624;21139048;21145461;21890473;22113938;22904065;22939629;23472126;23473034;23667531;25027693;8619474;9110174 51073 K7EJ73;K7EKI4;K7ELF1;K7ELQ0;K7ES61;Q9BYD3;X6RAY8 AB049635;ABBA01029942;AC011511;AF132962;AI092267;AL561917;AMYH02035487;AMYH02035488;AY007152;BC000756;BC009858;BG325905;BG422689;BG758801;BM550378;CH471106;NM_015956;NM_146387;NM_146388;W38612 AAD27737;AAG02005;AAH00756;AAH09858;BAB40840;EAW84083;EAW84084;EAW84085;NP_057040;NP_666499;NP_666500;Q9BYD3 Hs.279652 1699178;1797882;2131967 MRPL4_2013;RH103169;RH41882 CGI-28;L4mt;MGC16367;MGC2681;MRP-L4 39S ribosomal protein L4, mitochondrial APPROVED protein-coding ENSG00000105364 HGNC:14276 14759 611823 REVIEWED 1343765 MRPL40 mitochondrial ribosomal protein L40 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 3272293 3275855 + 19419302 19423600 + 19432513 19436075 + 1580863;6480464 10226592;11543634;12477932;12706105;14702039;15231747;15461802;15489334;18029348;19615732;20186120;20877624;21890473;22678362;22939629;23443559;9790763;9857009 64976 Q9NQ50 AB051624;ABBA01005411;AC000068;AC000079;AF034091;AJ295637;AK057708;AK123768;AMYH02038041;BC009707;CH471176;CR456532;NG_009231;NM_003776;XM_005261267 AAC70904;AAH09707;ABM82381;ABM82579;ABM85559;BAG53959;CAC00535;CAG30418;CAK54563;CAK54862;EAX03042;NP_003767;Q9NQ50;XP_005261324 Hs.431307 1685718;1688853;1853952;2125179;2217634;5015619;5016478;5022576;5024039;5037552 D11S3114;D16S325;D1S1361;D8S2279;GDB:434012;MRPL40_2792;RH65277;RH77808;RH80191;WI-21007 FLJ41774;L40mt;MGC9400;MRP-L22;MRP-L40;MRPL22;NLVCF;URIM 39S ribosomal protein L40, mitochondrial;OTTHUMP00000196397;OTTHUMP00000196403;nuclear localization signal containing protein deleted in velocardiofacial syndrome;nuclear localization signal deleted in velocardiofacial syndrome;nuclear localization signal-containing protein deleted in velocardiofacial syndrome;up-regulated in metastasis APPROVED protein-coding HGNC:14491 05476 605089 REVIEWED 7174919 MRPL40P1 mitochondrial ribosomal protein L40 pseudogene 1 12 12 12 q15 67409303 67409841 + 67745283 67745821 + 67351503 67352041 + 645328 ABBA01026565;AC078983;AMYH02026689;NG_021723 pseudo HGNC:44532 INFERRED 1321029 MRPL41 mitochondrial ribosomal protein L41 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the YmL27 ribosomal protein family. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 110970573 110971271 + 140446309 140447007 + 137551857 137552555 + 6480464 11543634;11551941;12477932;12706105;15164053;15489334;15547950;16024796;16256947;18029348;18157088;20186120;20877624;21139048;21145461;21253851;22711503;22939629;23443559;23667531;24160266;9857009 64975 Q8IXM3 AB051625;ABBA01022777;AI091177;AL365502;AMYH02021941;AY232291;BC040035;BM919526;CH471090;NM_032477 AAH40035;AAP69986;BAB54952;EAW88399;NP_115866;Q8IXM3 Hs.44017 2137659 STS-N29354 BMRP;L41mt;MRP-L27;MRP-L41;MRPL27;PIG3;RPML27 39S ribosomal protein L27 homolog;39S ribosomal protein L41, mitochondrial;MRP-L27 homolog;OTTHUMP00000022696;bcl-2-interacting mitochondrial ribosomal protein L41;cell proliferation-inducing gene 3 protein;proliferation-inducing gene 3 APPROVED protein-coding HGNC:14492 14760 611846 REVIEWED 1312629 MRPL42 mitochondrial ribosomal protein L42 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011] 12 12 12 q22 93531961 93567117 + 93861266 93897548 + 93467490 93503772 + 1302857;1580863;6480464 11279123 11042152;11230166;11543634;11551941;12477932;12706105;14702039;15489334;16169070;16344560;18029348;18391951;20546612;20877624;21890473;22190034;22939629;8889548;8889549 28977 F8VVR0;J3KP21;J3KPP0;Q9Y6G3;S4R2Z7;S4R360 AA211087;AB051626;ABBA01053376;AC025260;AF078860;AF135160;AF151038;AK000285;AL136659;AMYH02026945;AMYH02026946;BC040240;BM147739;BM726733;BU561400;CD385500;CH471054;CR533495;CR749344;DB195199;NM_014050;NM_172177;NR_038159;NR_038160;NR_038161 AAD44492;AAF36124;AAF43784;AAH40240;ACE87546;BAA91054;BAB54953;CAB66594;CAG38526;CAH18197;EAW97483;EAW97484;EAW97485;EAW97486;EAW97487;EAW97488;EAW97489;NP_054769;NP_751917;Q9Y6G3 Hs.199579 1685538;1746533;1797876;2118851;5014063;5123154 D15S1390;G64438;MRPL42_932.2;RH99326;SHGC-56874;STS-N40939 HSPC204;L31MT;L42MT;MRP-L31;MRP-L42;MRP-S32;MRPL31;MRPS32;PTD007;RPML31;S32MT 28S ribosomal protein S32, mitochondrial;39S ribosomal protein L31, mitochondrial;39S ribosomal protein L42, mitochondrial;OTTHUMP00000243091;OTTHUMP00000243092;OTTHUMP00000243093;OTTHUMP00000243096;mitochondrial ribosomal protein S32 APPROVED protein-coding HGNC:14493 14761 611847 REVIEWED 1354299 MRPL42P1 mitochondrial ribosomal protein L42 pseudogene 1 4 4 4 q26 117478012 117478437 - 120116421 120116846 - 119195266 119195691 - 12706105 285415 ABBA01044703;AC092656;AMYH02009987;AY135266;NG_002665 pseudo HGNC:29710 INFERRED 4144688 MRPL42P2 mitochondrial ribosomal protein L42 pseudogene 2 6 6 6 p22.3 17409666 17410094 + 16171837 16172265 + 16171606 16172034 + 12706105 346116 ABBA01022180;AL021407;AMYH02013176;AY135267;NG_002907 pseudo HGNC:29711 INFERRED 4144482 MRPL42P3 mitochondrial ribosomal protein L42 pseudogene 3 6 6 6 q24.2 145197917 145198255 + 144457574 144457912 + 144136437 144136775 + 12706105 359746 ABBA01025741;AL031390;AMYH02014641;AY135268;NG_002862 pseudo HGNC:29712 INFERRED 4144713 MRPL42P4 mitochondrial ribosomal protein L42 pseudogene 4 7 7 7 p12.3 47166081 47166431 - 47065720 47066070 - 47026122 47026472 - 12706105 346470 ABBA01058266;AC004870;AMYH02015654;AY135269;CH236958;NG_002908 pseudo HGNC:29713 INFERRED 1601918 MRPL42P5 mitochondrial ribosomal protein L42 pseudogene 5 15 15 15 q13.3 17590190 17590856 - 40824083 40824749 - 40531884 40532550 - 12706105;8889548 359821 ABBA01038446;AC091045;AMYH02030243;AY135270;BM979118;NR_002208 Hs.678598 pseudo HGNC:29714 VALIDATED 1316878 MRPL43 mitochondrial ribosomal protein L43 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008] 10 10 10 q24.31 96475300 96484994 - 102737579 102747272 - 100977822 100987515 - 1580863;6480464;8554872 11279069;11543634;12477932;12706105;14702039;15489334;15509589;16385451;17207965;17353931;19738201;20186120;20360068;20877624;21139048;21145461;22623428;22939629;23402259;23602568;24583282 84545 A8K4V4;B1AL05;H0Y6Y8;H0YBU8;M0R051;Q8N983 AB049656;ABBA01063212;ABBA01063213;AF086122;AK095556;AK291069;AK300237;AL133215;AMYH02023664;AW513604;BC015905;BC031287;BC041165;BC052639;BC053373;BG620490;BM455058;BU072283;CH471066;NG_011646;NM_032112;NM_176792;NM_176793;NM_176794;XM_005270230;XM_005270231;XM_006718035;XR_246111 AAH15905;AAH31287;AAH41165;AAH52639;AAH53373;ADQ33022;BAB40861;BAC04572;BAF83758;BAG62005;EAW49795;EAW49796;EAW49797;EAW49798;EAW49799;EAW49800;NP_115488;NP_789762;NP_789763;NP_789764;Q8N983;XP_005270287;XP_005270288;XP_006718098 Hs.421848 1661459;1661698;1740033;2124195;2155328;2167592;2218568 A004R30;D10S1629;D10S2273;MRPL43__3690;SHGC-24148;STS-D11794;STS-W80406 L43mt;MGC17989;MGC48892;MRP-L43;bMRP36a 39S ribosomal protein L43, mitochondrial;OTTHUMP00000020303;OTTHUMP00000020304;OTTHUMP00000020305;OTTHUMP00000020306;OTTHUMP00000020307;OTTHUMP00000020308;OTTHUMP00000020309;OTTHUMP00000020310;OTTHUMP00000224653;mitochondrial ribosomal protein bMRP36a APPROVED protein-coding ENSG00000055950 HGNC:14517 14762 611848 REVIEWED 1319960 MRPL44 mitochondrial ribosomal protein L44 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 2 2 2 q36.1 218588038 218598347 + 224822121 224832431 + 223957404 223967714 + 1580863;6480464;8699517;7240710;8554872 11551941;12477932;12706105;14702039;15489334;16169070;16712791;17342744;17353931;18976975;20020773;20186120;20877624;21139048;21145461;21900206;21906983;21988832;22354994;22904065;22939629;23315540;23402259 65080 Q9H9J2 AA814344;ABBA01023779;AC073641;AK022763;AK024052;AK095007;AL703412;AMYH02005882;BC012058;BG699238;CB132022;CH471063;CR457293;NM_022915 AAH12058;AAY14925;ADZ15557;BAB14234;BAB14802;CAG33574;EAW70819;EAW70820;NP_075066;Q9H9J2 Hs.203559 1651988;1696010;1698502;1698572;1797878;1856144;2140953;5020948;5022200;5022651;5037552;5109281 D11S2921;D1S1425;D2S431;D8S2279;G35510;L18426;MRPL44_1828;RH102801;RH102838;RH12342;SHGC-32172;SHGC-82778 COXPD16;FLJ12701;FLJ13990;FLJ37688;L44MT;MRP-L44 39S ribosomal protein L44, mitochondrial;OTTHUMP00000164216 APPROVED protein-coding ENSG00000135900 HGNC:16650 14763 611849;615395 REVIEWED 1312625 MRPL45 mitochondrial ribosomal protein L45 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013] 17 17 17 q21.2 33135785 33138385 + 36452989 36479101 + 38297023 38323218 + 1580863;6480464 11551941;12477932;12706105;14702039;15342556;15489334;18029348;19615732;20186120;20562859;20877624;20972266;21139048;21145461;21890473;22904065;22939629;23000965;23535730;24250222;24816145;8125298;8889548 84311 B4DEF8;Q9BRJ2 ABBA01010524;ABBA01031930;ABBA01031931;ABBA01031932;ABBA01031933;ABBA01031934;AC021317;AC115992;AC183084;AC244092;AK172741;AK225031;AK293605;BC006235;BC105297;BC130382;BC130384;BF240534;BG719833;BG761720;BI767984;BP374871;CB244005;CH471152;NM_001278279;NM_032351;XM_006725366 AAI05298;AAI30383;AAI30385;ADR83119;BAD18730;BAG57069;EAW60511;NP_001265208;NP_115727;Q9BRJ2;XP_006725429 Hs.537279;Hs.744110 1796344;2153641 MRPL45_1285;RH66148 L45mt;MGC11321;MRP-L45 39S ribosomal protein L45, mitochondrial;OTTHUMP00000164156 APPROVED protein-coding ENSG00000278845 HGNC:16651 14764 611850 REVIEWED 4144480 MRPL45P1 mitochondrial ribosomal protein L45 pseudogene 1 2 2 2 p11.2 88121118 88121866 + 88664211 88664959 - 88364692 88365440 - 12706105 359747 ABBA01018810;AC012671;AMYH02004255;AY135271;NG_002863 pseudo HGNC:29715 INFERRED 4144667 MRPL45P2 mitochondrial ribosomal protein L45 pseudogene 2 17 17 q21.32 45527593 45569986 - 47450227 47492620 - 6480464 12477932;12706105 653479 ABBA01041120;ABBA01041121;ABBA01041122;ABBA01041123;AC040934;AC244084;AY135272;BC067758;BC090855;NR_033934 Hs.537279 1683813;2166793;5037552 D17S2098;D8S2279;RH41838 pseudo HGNC:29716 VALIDATED 1319287 MRPL46 mitochondrial ribosomal protein L46 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 15 15 15 q25.3 65403257 65411181 - 89002709 89010633 - 88459478 88467402 - 1580863;6480464 11551941;11761714;12477932;12706105;15146197;15489334;17207965;20186120;20379614;20877624;21890473;22904065;22939629;23402259;23443559 26589 H0YN64;Q9H2W6 ABBA01052996;AC142401;AF205435;AF210056;AK074053;AK315434;AMYH02031003;BC017883;CH471101;CN309742;NM_022163 AAG33698;AAG43507;AAH17883;ADQ32109;BAB84879;BAG37822;EAX01995;EAX01996;EAX01997;EAX01998;NP_071446;Q9H2W6 Hs.534261 1754173;2108267;2178301;2181922 D15S1261;MRPL46_8022;RH11341;SHGC-132199 C15orf4;L46mt;LIECG2;MGC22762;MRP-L46;P2ECSL 39S ribosomal protein L46, mitochondrial;OTTHUMP00000192922 APPROVED protein-coding ENSG00000259494 HGNC:1192 14765 611851 REVIEWED 1316780 MRPL47 mitochondrial ribosomal protein L47 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 q26.33 177737131 177753312 - 179306253 179322434 - 179588465 179604646 - 1580863;6480464 11551941;11943462;12477932;12706105;20186120;20360068;20877624;21139048;22939629;23473034;24816145 57129 Q9HD33 ABBA01058530;AC090425;AMYH02008230;AY212270;BC021575;BC032522;CA428787;CH471052;NM_020409;NM_177988 AAH21575;AAH32522;AAO92749;EAW78394;EAW78395;EAW78396;NP_065142;NP_817125;Q9HD33 Hs.283734 1797880;1849753;2165875 MRPL47_2612;SHGC-77570;STS-N29372 CGI-204;L47mt;MGC45403;MRP-L47;NCM1 39S ribosomal protein L47, mitochondrial;OTTHUMP00000212454;OTTHUMP00000212455;OTTHUMP00000212456;nasopharyngeal carcinoma metastasis-related 1;nasopharyngeal carcinoma metastasis-related protein 1 APPROVED protein-coding ENSG00000136522 HGNC:16652 14766 611852 REVIEWED 1316849 MRPL48 mitochondrial ribosomal protein L48 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 6p. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 70805836 70882576 + 73498917 73575656 + 73787872 73864611 + 1580863;6480464 10810093;11551941;12477932;12706105;15231747;15489334;16341674;16344560;17207965;18324346;20020773;20186120;20601428;20877624;21139048;21832049;21890473;22939629;23251661;23473034;24457600;8889548 51642 F5GWB4;F5GZH8;F5H1L2;F5H471;F5H4A2;F5H702;F5H717;F5H8D0;Q96GC5 ABBA01017503;ABBA01017504;ABBA01017505;AF151876;AF161408;AK297746;AK309219;AK310005;AMYH02025096;AMYH02025097;AMYH02025098;AMYH02025099;AP002770;BC009764;BC036501;BM817807;BM828996;BU932890;CF529680;CF541319;CH471076;DA549653;NM_016055;XM_005274050 AAD34113;AAF28968;AAH09764;ADQ33160;BAG60096;EAW74913;NP_057139;Q96GC5;XP_005274107 Hs.503239 1298156;1649516;1657870;1675235;1683190;1855792;2143684;2150999;5014051;5015619;5015961;5016596;5020946;5037552;7183193 D11S2371;D11S3114;D11S4347;D15S1477;D6S351E.1;D8S2278;D8S2279;G29174;GDB:631802;L17971;RH45801;SGC30666;SHGC-53344;STS-R92700 CGI-118;FLJ17047;FLJ99260;HSPC290;L48MT;MGC13323;MRP-L48 39S ribosomal protein L48, mitochondrial;OTTHUMP00000237698;OTTHUMP00000237707 APPROVED protein-coding HGNC:16653 14767 611853 REVIEWED 1344176 MRPL48P1 mitochondrial ribosomal protein L48 pseudogene 1 6 6 6 p24.3 11688387 11689299 - 10459910 10460822 - 10459677 10460589 - 12706105 221717 ABBA01022078;AL138885;AMYH02013095;AY135273;NG_002430 2150999 STS-R92700 MRPL48L1;dJ290I10.4 pseudo HGNC:21379 INFERRED 1320522 MRPL49 mitochondrial ribosomal protein L49 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011] 11 11 11 q13 62216028 62221142 + 64889655 64894841 + 65122183 65127369 + 1580863;6480464;8554872 11551941;12477932;12706105;14702039;15489334;16344560;20186120;20601428;20877624;21139048;21145461;21832049;22354994;22939629;23349634;23402259;23443559;24250222;8786148 740 E9PI78;E9PNF1;E9PRD2;H0YDP7;Q13405 AB062395;AB209160;ABBA01024135;ABBA01024136;AK123252;AK129795;AK129986;AK311821;AMYH02024953;AP003068;BC004378;BG250495;CH471076;DA158218;DA162786;DA484303;KF455403;NM_004927;NR_037567;NR_037568;U39400 AAB18826;AAH04378;BAB93482;BAD92397;BAG34763;EAW74354;EAW74355;EAW74356;NP_004918;Q13405 Hs.744882 1650582;1676392;1690588;1796346;2154849;2176473;2184180;2189497;5015861;5017227;5022425;5037552;5126495;7185938 D10S16;D11S1963;D22S296;D8S2279;FAU;G38154;MARC_7557-7558:992008497:1;MRPL49_934;RH11613;RH18051;RH70124;RH70269;RH93189 C11orf4;L49mt;MGC10656;MRP-L49;NOF;NOF1 39S ribosomal protein L49, mitochondrial;OTTHUMP00000230438;OTTHUMP00000230439;OTTHUMP00000230440;neighbor of FAU;next to FAU APPROVED protein-coding ENSG00000149792 HGNC:1176 06037 606866 REVIEWED 4144461 MRPL49P1 mitochondrial ribosomal protein L49 pseudogene 1 5 5 5 q12.1 60967575 60968112 + 63970681 63971217 + 64674854 64675390 + 12706105 359748 ABBA01048338;AC008854;AMYH02011418;AY135274;NG_002864 pseudo HGNC:29717 INFERRED 1342652 MRPL49P2 mitochondrial ribosomal protein L49 pseudogene 2 8 8 8 p22 15196966 15197433 + 16232128 16232595 + 16374619 16375086 + 12706105 346711 ABBA01021595;AC010785;AMYH02017513;AY135275;NG_002836 pseudo HGNC:29718 INFERRED 1353682 MRPL5 mitochondrial ribosomal protein L5 HGNC:14473 1317530 MRPL50 mitochondrial ribosomal protein L50 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 74665854 74674524 - 104151096 104160919 - 101389967 101398637 - 6480464 11551941;12477932;12706105;14702039;15146197;15164053;15489334;20186120;20877624;20972266;21139048;21145461;21890473;22939629;23402259;24583282;24816145 54534 Q8N5N7 ABBA01042874;AK000500;AK295521;AL353621;AMYH02021354;BC032008;CH471105;CN388719;NM_019051 AAH32008;ADZ15708;BAA91207;BAH12094;EAW58948;NP_061924;Q8N5N7 Hs.288224 1650833;1796348 D9S950;MRPL50_1526 FLJ20493;FLJ21990;L50mt;MRP-L50 39S ribosomal protein L50, mitochondrial;OTTHUMP00000021811;mitochondrial 39S ribosomal protein L50 APPROVED protein-coding HGNC:16654 14768 611854 REVIEWED 1348015 MRPL50P1 mitochondrial ribosomal protein L50 pseudogene 1 2 2 2 p22.3 35787876 35788273 - 35949825 35950222 - 35724759 35725156 - 12706105 351143 ABBA01074943;AC068274;AMYH02003595;AY135276;NG_002841 pseudo HGNC:29719 INFERRED 4144463 MRPL50P2 mitochondrial ribosomal protein L50 pseudogene 2 2 2 2 q34 197934504 197934985 - 204180113 204180594 - 203315390 203315871 - 12706105 359749 ABBA01062609;AC080075;AMYH02005594;AY135277;NG_002865 pseudo HGNC:29720 INFERRED 4144478 MRPL50P3 mitochondrial ribosomal protein L50 pseudogene 3 5 5 5 p12 173398454 173398930 + 177771844 177772320 + 178344843 178345319 + 12706105 359750 ABBA01009992;AC136601;AMYH02012862;AY135278;NG_002866 pseudo HGNC:29721 INFERRED 4144477 MRPL50P4 mitochondrial ribosomal protein L50 pseudogene 4 10 10 10 q23.1 54577265 54577743 - 61311157 61311636 - 59551399 59551878 - 12706105 359751 ABBA01019451;AC026391;AMYH02023164;AY135279;NG_002867 pseudo HGNC:29722 INFERRED 1315444 MRPL51 mitochondrial ribosomal protein L51 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008] 12 12 12 p13.3-p13.1 8218232 8219387 - 6601316 6602471 - 6492150 6493305 - 6480464 11042152;11402041;11543634;11551941;12477932;12706105;15489334;20186120;20601428;20877624;21139048;22939629 51258 M0R176;Q4U2R6 AB049959;AB051355;ABBA01017642;AC006064;AF151075;AF212248;AMYH02025952;BC000191;BC014329;BI856229;CH471116;NM_016497 AAF36161;AAH00191;AAH14329;AAK14931;BAB41012;BAB54944;EAW88791;NP_057581;Q4U2R6 Hs.55847 1683525;5124893 RH25377;RH93703 CDA09;HSPC241;L51mt;MRP-L51;MRP64;bMRP-64;bMRP64 39S ribosomal protein L51, mitochondrial;OTTHUMP00000238892;mitochondrial ribosomal protein 64;mitochondrial ribosomal protein bMRP64 APPROVED protein-coding HGNC:14044 14769 611855 REVIEWED 1344793 MRPL51P1 mitochondrial ribosomal protein L51 pseudogene 1 4 4 4 p15.2 27874044 27874306 - 27424555 27424817 - 27422933 27423195 - 12706105 351773 ABBA01032735;AC006568;AMYH02008943;AY135280;NG_002843 pseudo HGNC:29723 INFERRED 1352102 MRPL51P2 mitochondrial ribosomal protein L51 pseudogene 2 21 21 21 q22.3 29687989 29688620 - 44535326 44535957 - 43115216 43115847 - 12706105 343819 ABBA01004514;AP001631;AY135281;NG_002834 pseudo HGNC:29724 INFERRED 1319568 MRPL52 mitochondrial ribosomal protein L52 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 3161975 3167132 + 23299088 23304246 + 22829879 22835037 + 6480464 11551941;11943462;12477932;12706105;14702039;15489334;16341674;16344560;18029348;20877624;21832049;22939629;23402259;24816145 122704 A6NLB9;G3V3U6;G3V4H9;G3V4J1;G5E9P5;Q86TS9 AA282746;AA282747;ABBA01061285;ABBA01061286;AI380351;AK000450;AK096946;AK292011;AL135998;AMYH02028849;BC055381;BC068070;BG714882;BG716120;BQ082981;BU600884;BX248749;CH471078;DA917052;NM_178336;NM_180982;NM_181304;NM_181305;NM_181306;NM_181307;XM_005267325;XM_005267326;XM_005267327;XM_005267328;XM_006720027 AAH68070;BAF84700;CAD66556;EAW66238;EAW66239;EAW66240;EAW66241;EAW66242;EAW66243;EAW66244;NP_848026;NP_851313;NP_851821;NP_851822;NP_851823;NP_851824;Q86TS9;XP_005267382;XP_005267383;XP_005267384;XP_005267385;XP_006720090 Hs.355935 1699456;5015861;5015961;7185938 D10S16;D15S1477;RH103319 L52mt;MRP-L52 39S ribosomal protein L52, mitochondrial;OTTHUMP00000027916;OTTHUMP00000164489;OTTHUMP00000164490;OTTHUMP00000245871;OTTHUMP00000245874;OTTHUMP00000245875;OTTHUMP00000245876;OTTHUMP00000245878;OTTHUMP00000245881 APPROVED protein-coding ENSG00000172590 HGNC:16655 14770 611856 REVIEWED 1315480 MRPL53 mitochondrial ribosomal protein L53 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. [provided by RefSeq, Jul 2008] 2 2 2 p13.1 74530297 74531115 - 74699085 74699942 - 74471958 74472815 - 6480464 11329013;11551941;12477932;12706105;15489334;19615732;21150319;21832049;22939629;23402259;24816145;8889548 116540 B9A051;Q96EL3 ABBA01075602;AC005041;AMYH02004091;BC012163;BG196300;BQ014848;BQ688110;CH471053;NM_053050 AAH12163;EAW99651;NP_444278;Q96EL3 Hs.534527 2163258 RH46364 FLJ90728;L53MT;MGC20402 39S ribosomal protein L53, mitochondrial;MRP-L53;OTTHUMP00000160421 APPROVED protein-coding HGNC:16684 14771 611857 REVIEWED 4144460 MRPL53P1 mitochondrial ribosomal protein L53 pseudogene 1 1 1 1 p13.2 111399017 111399370 - 113168494 113168847 - 112625872 112626225 - 12706105 359752 ABBA01068413;AL929470;AMYH02001743;AY135282;NG_002868 pseudo HGNC:29725 INFERRED 1313872 MRPL54 mitochondrial ribosomal protein L54 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3700310 3705207 + 3762665 3767563 + 3762667 3767565 + 6480464;8554872 11551941;12477932;12706105;15489334;16341674;17207965;20186120;20877624;22082156;22939629;23402259;24250222;7566098 116541 K7ENN2;Q6P161 AA340000;ABBA01002841;ABBA01002842;ABBA01002843;AC005777;AC005954;AMYH02035262;BC065273;BF346319;BM792364;BQ061807;CH471139;NM_172251 AAH65273;ADQ33121;EAW69289;NP_758455;Q6P161 Hs.356578 1724915 RH119224 L54mt;MRP-L54 39S ribosomal protein L54, mitochondrial APPROVED protein-coding ENSG00000183617 HGNC:16685 14772 611858 REVIEWED 1317775 MRPL55 mitochondrial ribosomal protein L55 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 201484612 201487245 - 228294380 228297037 - 228106679 228109337 - 6480464 10737800;11551941;11943462;12477932;12706105;12975309;14702039;15489334;16710414;17207965;17567985;20186120;20877624;22939629;8889548 128308 Q7Z7F7;X6R631;X6RIW1 AA479904;ABBA01005830;AI301403;AK056987;AL136379;AMYH02002837;AX405668;AY358771;BC052806;BF945771;BG475759;BI458525;BM706934;BM975134;BP871687;BQ012917;BQ684146;BQ771735;BQ920610;BU594505;BU597178;BU601595;BU956146;BX647745;CB529047;CH471098;CV572808;NM_181441;NM_181454;NM_181455;NM_181456;NM_181462;NM_181463;NM_181464;NM_181465;XM_005273059;XM_005273060;XM_005273061;XM_005273062;XM_005273063;XM_006711737;XM_006711738;XM_006711739;XM_006711740;XM_006711741;XM_006711742;XM_006711743;XM_006711744;XM_006711745;XM_006711746;XM_006711747;XM_006711748 AAH52806;AAQ89131;ADQ33097;CAD34775;EAW69840;EAW69841;EAW69842;EAW69843;EAW69844;EAW69845;EAW69846;EAW69847;EAW69848;EAW69849;NP_852106;NP_852119;NP_852120;NP_852121;NP_852127;NP_852128;NP_852129;NP_852130;Q7Z7F7;XP_005273116;XP_005273117;XP_005273118;XP_005273119;XP_005273120;XP_006711800;XP_006711801;XP_006711802;XP_006711803;XP_006711804;XP_006711805;XP_006711806;XP_006711807;XP_006711808;XP_006711809;XP_006711810;XP_006711811 Hs.63236 AAVG5835;DKFZp686D1387;L55mt;L55nt;MGC61802;MRP-L55;PRO19675 39S ribosomal protein L55, mitochondrial;OTTHUMP00000036076;OTTHUMP00000036077;OTTHUMP00000036125;OTTHUMP00000037488;OTTHUMP00000037490;OTTHUMP00000037491;OTTHUMP00000037492;OTTHUMP00000037493;OTTHUMP00000037494;OTTHUMP00000037495;OTTHUMP00000037496;OTTHUMP00000037497;OTTHUMP00000037498;OTTHUMP00000037499;OTTHUMP00000037500;OTTHUMP00000037501;OTTHUMP00000037502;OTTHUMP00000037503 APPROVED protein-coding ENSG00000162910 HGNC:16686 14773 611859 REVIEWED 1321750 MRPL57 mitochondrial ribosomal protein L57 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. [provided by RefSeq, Jul 2008] 13 13 13 q12.11 2812030 2814882 + 21750372 21753223 + 21176233 21179084 + 6480464 11402041;11543634;12477932;12706105;15489334;15525513;20877624;21139048;22939629;23908630;8889548 78988 Q9BQC6 AB049957;ABBA01068601;AL158032;AMYH02027657;AW445203;BC000002;BC023616;BC068492;BG030730;BG773624;BG778041;BI601227;CF890784;CH471075;CS072369;NM_024026 AAH23616;AAH68492;ABM83014;ABM86207;BAB41010;CAI93507;EAX08296;EAX08297;EAX08298;NP_076931;Q9BQC6 Hs.458367 2149321;5015861;5016478;5020635;5020948;5037554;5118718;7183240;7185938 D10S16;D11S3590;D7S3207;D8S2282;G35510;GDB:434012;STS-T26585 MGC3243;MRP63;bMRP63;hMRP63 OTTHUMP00000176880;mitochondrial ribosomal protein 63;mitochondrial ribosomal protein bMRP63;ribosomal protein 63, mitochondrial APPROVED protein-coding ENSG00000173141 HGNC:14514 14736 611997 REVIEWED 1345839 MRPL57P1 mitochondrial ribosomal protein L57 pseudogene 1 1 1 1 p13.1 113050864 113051148 - 114821624 114821908 - 114279002 114279286 - 12706105 126581 ABBA01068460;AL121999;AMYH02001780;AY135236;NG_002827 MRP63P1 APPROVED pseudo HGNC:29686 INFERRED 1342568 MRPL57P10 mitochondrial ribosomal protein L57 pseudogene 10 Y Y Y p11.2 3332113 3332374 + 9993792 9994053 + 10156183 10156444 + 12706105 347587 ABBA01031169;AC006987;AY135245;NG_002837 2188269;2188275;2188289 G66308;G66311;G66320 MRP63P10 APPROVED pseudo HGNC:23965 INFERRED 1343179 MRPL57P2 mitochondrial ribosomal protein L57 pseudogene 2 1 1 1 q42.13 200951819 200952026 - 227759941 227760148 - 227572240 227572447 - 12706105 359729 ABBA01009611;AL451054;AMYH02002829;AY135237;NG_002845 MRP63P2 APPROVED pseudo HGNC:29687 INFERRED 1352482 MRPL57P3 mitochondrial ribosomal protein L57 pseudogene 3 3 3 3 p21.31 47008850 47009045 + 47070334 47070529 + 47028844 47029039 + 12706105 359730 ABBA01024708;AC094020;AMYH02006679;AY135238;NG_002846;NG_032091 MRP63P3 APPROVED pseudo HGNC:29688 INFERRED 1347527 MRPL57P6 mitochondrial ribosomal protein L57 pseudogene 6 5 5 5 q34 158500359 158500684 + 162466287 162466612 + 163039281 163039606 + 12706105 134490 ABBA01044190;AC113414;AMYH02012630;AY135241;NG_002829 MRP63P6 APPROVED pseudo HGNC:29689 INFERRED 1345049 MRPL57P7 mitochondrial ribosomal protein L57 pseudogene 7 8 8 8 q22.2 96104176 96104448 - 99918483 99918755 - 98906255 98906527 - 12706105 359731 ABBA01037546;AC016877;AMYH02018486;AY135242;NG_002847 MRP63P7 APPROVED pseudo HGNC:29690 INFERRED 1354513 MRPL57P8 mitochondrial ribosomal protein L57 pseudogene 8 14 14 14 q13.2 15552051 15552325 - 35688226 35688500 - 35219020 35219294 - 12706105 359732 ABBA01061499;AL121594;AMYH02029005;AY135243;NG_002848 MRP63P8 APPROVED pseudo HGNC:29691 INFERRED 1353636 MRPL57P9 mitochondrial ribosomal protein L57 pseudogene 9 14 14 14 q22.1 31251431 31251625 + 51384375 51384569 + 50917657 50917851 + 12706105 359733 ABBA01018147;AL358334;AMYH02029172;AY135244;NG_002849;NG_012796 1848114 WI-18152 MRP63P9 APPROVED pseudo HGNC:29692 INFERRED 1350310 MRPL6 mitochondrial ribosomal protein L6 HGNC:14474 1346687 MRPL8 mitochondrial ribosomal protein L8 HGNC:14475 1350314 MRPL9 mitochondrial ribosomal protein L9 This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Jul 2014] 1 1 1 q21 124846736 124850653 - 151732119 151736040 - 151759643 151763564 - 1580863;6480464 11279069;11543634;11551941;12477932;12706105;15489334;16169070;16710414;18029348;19060904;20186120;20532202;20877624;21139048;21145461;22939629;23667531;24816145 65005 Q5SZR1;Q9BYD2 AB049636;ABBA01049404;AK026363;AK293401;AK300668;AK309841;AK315459;AL589765;AMYH02001888;AW452832;BC004517;BG437768;BU623309;CF127136;CH471121;NM_001300733;NM_031420;NR_125331;XM_005245455 AAH04517;BAB40841;BAG37846;BAG56908;BAG62353;EAW53415;EAW53416;NP_001287662;NP_113608;Q9BYD2;XP_005245512 Hs.288936 1673620;2120834;2217636 MRPL9_3052;RH35887;SHGC-34368 L9mt;MRP-L9 39S ribosomal protein L9, mitochondrial;OTTHUMP00000015264;OTTHUMP00000015265 APPROVED protein-coding ENSG00000143436 HGNC:14277 14774 611824 REVIEWED 1353849 MRPL9P1 mitochondrial ribosomal protein L9 pseudogene 1 8 8 8 q21.11 73508482 73509503 - 77515068 77516089 - 76602833 76603854 - 12706105 137290 ABBA01041996;AC011716;AMYH02018251;NG_001539 pseudo HGNC:29726 INFERRED 1350720 MRPS1 mitochondrial ribosomal protein S1 1302857 11279123 11943462 HGNC:14494 1323017 MRPS10 mitochondrial ribosomal protein S10 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 43726978 43738077 - 42174539 42185633 - 42206801 42217895 - 1302857;1580863;6480464 11279123 10938081;11827452;12477932;12706105;14574404;14702039;15231747;15489334;17207965;18029348;19322201;20186120;20877624;21139048;22904065;22939629;23824909 55173 P82664;Q9BZS5 ABBA01050732;ABBA01050733;AF113220;AF277180;AI683142;AI754661;AK001429;AK098446;AK298219;AK316599;AL096814;AMYH02013620;AW300686;AW974308;BC012560;BG776014;CH471081;NM_018141;XM_005249206 AAG39291;AAH12560;AAK07539;ADQ32446;BAA91686;BAG38186;BAG60489;EAX04086;EAX04087;NP_060611;P82664;XP_005249263 Hs.380887;Hs.669022 1658035;1676878;1689079;1689312;1796350;2163203;5022649;5037552 A002P30;D11S2875;D8S2279;MRPS10_1279;RH46712;RH65217;RH69970;WI-16584 FLJ10567;MRP-S10;PNAS-122;S10mt 28S ribosomal protein S10, mitochondrial;OTTHUMP00000016395;mitochondrial 28S ribosomal protein S10 APPROVED protein-coding ENSG00000048544 HGNC:14502 14775 611976 REVIEWED 1604465 MRPS10P1 mitochondrial ribosomal protein S10 pseudogene 1 1 1 1 q23.2 143069028 143069158 + 169959216 169959346 + 169990075 169990205 + 12706105 359753 ABBA01027945;AL121714;AMYH02002119;AY135284;NG_002869;NG_012883 pseudo HGNC:29728 INFERRED 1604163 MRPS10P2 mitochondrial ribosomal protein S10 pseudogene 2 3 3 3 p26 4394166 4394569 - 4456244 4456647 - 4414560 4414963 - 12706105 359802 ABBA01020470;AC024168;AMYH02006182;AY135285;AY135286;AY135287;NG_002903;NG_016225 MRPS10P3;MRPS10P4 pseudo HGNC:29727 INFERRED 1604464 MRPS10P5 mitochondrial ribosomal protein S10 pseudogene 5 9 9 9 p12 37769014 37769592 - 37835818 37836396 - 37835821 37836399 - 12706105 359754 ABBA01050386;AL138752;AMYH02019504;AY135288;NG_002870 1676878;1689079 RH65217;RH69970 pseudo HGNC:29729 INFERRED 1350817 MRPS11 mitochondrial ribosomal protein S11 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Sequence analysis identified two transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2008] 15 15 15 q25 65411232 65422043 + 89010684 89021861 + 88467453 88478630 + 1580863;6480464 11279123;11402041;11543634;12477932;12706105;14702039;15300802;15489334;20186120;20877624;21139048;21145461;21890473;22939629;23443559;23602568;8125298 64963 H0YL99;P82912 AB049944;AB051349;ABBA01052996;AC013489;AC142401;AF320777;AK026165;AK027059;AK222933;AK223152;AK315407;AMYH02031003;BC000200;BC009451;BC012489;BC032378;CH471101;CX163380;NM_022839;NM_176805;XM_005254977;XM_005254978 AAH09451;AAH12489;AAH32378;AAK97314;ABM82512;ABM85706;BAB15381;BAB40997;BAB54939;BAD96653;BAD96872;BAG37799;EAX01999;EAX02000;EAX02001;EAX02002;NP_073750;NP_789775;P82912;XP_005255034;XP_005255035 Hs.111286 1794380;2139103;2140773;2182331;5037552 D8S2279;PMC311040P9;RH77830;STS-AA035504;WI-15965 FLJ22512;FLJ23406;HCC-2;MRP-S11;S11mt 28S ribosomal protein S11, mitochondrial;OTTHUMP00000192916;OTTHUMP00000192917;cervical cancer proto-oncogene 2 protein APPROVED protein-coding HGNC:14050 14776 611977 REVIEWED 1346551 MRPS11P1 mitochondrial ribosomal protein S11 pseudogene 1 20 20 20 p11.23 20908548 20909362 - 20834474 20835288 - 20853831 20854645 - 12706105 128774 ABBA01054095;AL109953;AMYH02036809;AY135289;NG_000977 dJ746H2.1 pseudo HGNC:16584 INFERRED 1314714 MRPS12 mitochondrial ribosomal protein S12 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5' UTR have been found for this gene; all three variants encode the same protein. [provided by RefSeq, Jul 2008] 19 19 19 q13.1-q13.2 36223777 36226089 + 39421348 39423660 + 38930708 38933020 + 1580863;6480464 10542210;11279123;11402041;11543634;12477932;12646258;12706105;12970870;15489334;16169070;18790094;18854154;19439209;20877624;21139048;21890473;24250222;24816145;9434165;9545647;9790755 6183 O15235 ABBA01040710;AC011455;AF058761;AI168197;AMYH02036084;BC001617;BC006424;BC007499;CH471126;CR407609;NG_029222;NG_031865;NM_021107;NM_033362;NM_033363;Y11681 AAC64704;AAH01617;AAH06424;AAH07499;CAA72377;CAG28537;EAW56849;EAW56850;EAW56851;EAW56852;NP_066930;NP_203526;NP_203527;O15235 Hs.411125 1688881;1778792;1797884;5094910 MRPS12;MRPS12_1782;RH15855;RH39132 MPR-S12;MRP-S12;MT-RPS12;RPMS12;RPS12;RPSM12;S12mt 28S ribosomal protein S12, mitochondrial;ribosomal protein, mitochondrial, S12 APPROVED protein-coding ENSG00000128626 HGNC:10380 04316 603021 REVIEWED 1342933 MRPS13 mitochondrial ribosomal protein S13 1302857 11279123 11943462 HGNC:14503 1319772 MRPS14 mitochondrial ribosomal protein S14 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] 1 1 1 q25.1 148092797 148102230 - 174982094 174992591 - 175012958 175023455 - 1580863;6480464 10938081;11279123;11543634;12477932;12706105;15489334;16344560;16710414;17353931;18029348;19615732;20186120;20877624;22939629;23443559;24816145 63931 F2Z361;O60783 AB051350;ABBA01027873;AI086885;AK310915;AK311759;AL049705;AMYH02002177;BC009788;BE882322;CB957578;CH471067;DA610441;NM_022100;NR_037606;Z99127;Z99297 AAH09788;BAB54940;BAG34702;CAB41269;EAW90984;EAW90985;NP_071383;O60783 Hs.654858 1663412;1771323;1771325;2166519;2217638 MRPS14_2961;RH78988;RH79094;SHGC-36175;SHGC-37552 DJ262D12.2;HSMRPS14;MRP-S14;S14mt 28S ribosomal protein S14, mitochondrial;OTTHUMP00000032803;mitochondrial 28S ribosomal protein S14 APPROVED protein-coding ENSG00000120333 HGNC:14049 14777 611978 REVIEWED 1347502 MRPS15 mitochondrial ribosomal protein S15 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding sites conserved. Between human and mouse, the encoded protein is the least conserved among small subunit ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 15q and 19q. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 35197145 35205823 - 36921362 36930040 - 36455761 36464439 - 1580863;6480464 11279123;11402041;11543634;12477932;12706105;14702039;15489334;18029348;19427859;20186120;20877624;21139048;21145461;21182203;21441570;21693764;21906983;23473034;24244333;24816145;8889548 64960 P82914;Q59EA6 AB049946;AB209905;ABBA01023295;AC119675;AF265439;AK021626;AK125230;AK302633;AK315441;AMYH02000788;BC031336;BF310592;BM048518;BU927793;CF123360;CH471059;NM_031280 AAG44697;AAH31336;BAB40999;BAD93142;BAG37829;BAG63875;EAX07359;EAX07360;EAX07361;EAX07362;EAX07363;NP_112570;P82914 Hs.352839 1647500;1648606;2120180;5015619;5016596;5022200;5037552 D11S3114;D8S2279;GDB:631802;L18426;RH41915;SHGC-74604;WI-15156 DC37;FLJ11564;MPR-S15;RPMS15;S15mt 28S ribosomal protein S15, mitochondrial;MRP-S15;OTTHUMP00000009727 APPROVED protein-coding ENSG00000116898 HGNC:14504 11372 611979 REVIEWED 4144462 MRPS15P1 mitochondrial ribosomal protein S15 pseudogene 1 15 15 15 q22 50654137 50654892 - 73775531 73776286 - 73483190 73483945 - 12706105 359755 ABBA01038710;AC009660;AMYH02030773;AY135290;NG_002871 pseudo HGNC:29730 INFERRED 4144458 MRPS15P2 mitochondrial ribosomal protein S15 pseudogene 2 19 19 19 q13.32 41598874 41599166 + 44794791 44795083 + 44290638 44290930 + 12706105 359756 ABBA01040876;AC138473;AMYH02036178;AY135291;NG_002872 1783774;1783858 SHGC-106960;SHGC-84207 pseudo HGNC:29731 INFERRED 1321233 MRPS16 mitochondrial ribosomal protein S16 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. [provided by RefSeq, Jul 2008] 10 10 10 q22.1 68294224 68298074 - 75008601 75012451 - 73248843 73252693 - 1580863;6480464;7240710;8554872;8699517 10810093;11279123;11402041;11543634;12477932;12706105;14702039;15489334;15505824;16385451;16498633;17207965;18539099;19322201;19807034;19945174;20186120;20877624;21145461;21890473;22939629;23443559;24816145 51021 A6ND22;Q9Y3D3 AB049948;AB051351;ABBA01020332;AC016394;AF151890;AK025715;AK098291;AMYH02023331;BC021106;BQ441549;CH471083;NG_008096;NM_016065 AAD34127;AAH21106;ADQ32537;BAB41001;BAB54941;EAW54487;NP_057149;Q9Y3D3 Hs.180312 1663069;1699268;1848095;5022200;5037552 D8S2279;L18426;RH103216;SHGC-64138;STS-T51233 CGI-132;COXPD2;FLJ22062;FLJ40972;MRP-S16;RPMS16;S16mt 28S ribosomal protein S16, mitochondrial;OTTHUMP00000019801 APPROVED protein-coding ENSG00000182180 HGNC:14048 14778 609204;610498 REVIEWED 1351805 MRPS16P1 mitochondrial ribosomal protein S16 pseudogene 1 8 8 8 q21.3 89116097 89116512 + 92929735 92930150 + 91917507 91917922 + 12706105 137406 ABBA01037421;AC103680;AMYH02018406;AY135292;NG_002648 1663069 SHGC-64138 pseudo HGNC:29732 INFERRED 1349830 MRPS16P2 mitochondrial ribosomal protein S16 pseudogene 2 20 20 20 q13.32 54428568 54429425 + 57688130 57688987 + 59113075 59113932 + 12706105 128609 ABBA01005967;AL136532;AMYH02037380;AY135293;NG_000968 MRPS16P;bA379F14.1 APPROVED pseudo HGNC:16541 INFERRED 1348362 MRPS16P3 mitochondrial ribosomal protein S16 pseudogene 3 22 22 22 q12.3 19903719 19904128 + 36099812 36100221 + 35703765 35704174 + 12706105 338388 ABBA01055424;AL049748;AMYH02038307;AY135294;NG_002649 pseudo HGNC:29733 INFERRED 1316964 MRPS17 mitochondrial ribosomal protein S17 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008] 7 7 7 p11 67073035 67076458 + 56019611 56023034 + 55951918 55955341 + 1580863;6480464 11042152;11181995;11279123;11402041;11543634;12477932;12706105;12938929;15489334;17081983;20186120;20877624;21139048;21890473;23000965;24457600;9653160 51373 E9PE17;Q9Y2R5 AB049950;AB051352;ABBA01061842;AC092579;AF077035;AK026553;AMYH02015747;AX354378;BC037405;BC047445;BC054031;CH471140;NM_015969 AAD27768;AAH37405;AAH47445;AAH54031;BAB41003;BAB54942;CAD22972;EAX07962;EAX07963;NP_057053;Q9Y2R5 Hs.44298 1650632;5022200;5022450;5022651;5024187;5037552;5093344 A009L41;D10S275;D11S2921;D8S2279;G32664;L18426;L29710 HSPC011;MRP-S17;RPMS17;S17mt 28S ribosomal protein S17, mitochondrial;OTTHUMP00000159737;OTTHUMP00000209315 APPROVED protein-coding HGNC:14047 14779 611980 REVIEWED 1604162 MRPS17P1 mitochondrial ribosomal protein S17 pseudogene 1 1 1 1 p34 43740139 43740715 - 45457349 45457925 - 44991677 44992253 - 12706105 359803 ABBA01050896;AL136380;AMYH02000921;AY135295;AY135296;NG_004092 MRPS17P2 pseudo HGNC:29734 INFERRED 4144456 MRPS17P3 mitochondrial ribosomal protein S17 pseudogene 3 3 3 3 p12.1 79316764 79317152 + 78574253 78574641 + 78525103 78525491 + 12706105 359757 ABBA01031019;AC112508;AMYH02007117;AY135297;NG_002873 pseudo HGNC:29736 INFERRED 4144457 MRPS17P5 mitochondrial ribosomal protein S17 pseudogene 5 6 6 6 q22.33 128973219 128973404 + 128230976 128231161 + 127909831 127910016 + 12706105 359758 ABBA01025926;AL035470;AMYH02014457;AY135299;NG_002874;NG_016226 pseudo HGNC:29737 INFERRED 4144459 MRPS17P6 mitochondrial ribosomal protein S17 pseudogene 6 14 14 14 p11 1624873 1625083 + 21759398 21759742 + 21291239 21291583 + 12706105 359759 ABBA01061242;AL135744;AMYH02028836;AY135300;NG_002875;NG_008933 pseudo HGNC:29738 INFERRED 1604703 MRPS17P7 mitochondrial ribosomal protein S17 pseudogene 7 18 18 18 q21.31 52148565 52149063 - 55430952 55431450 - 57763720 57764218 - 12706105 342776 ABBA01056140;AC022724;AMYH02034798;AY135298;AY135301;AY135302;NG_004091;NG_007148 MRPS17P4;MRPS17P8 pseudo HGNC:29735 INFERRED 4144454 MRPS17P9 mitochondrial ribosomal protein S17 pseudogene 9 X X X q24 118968370 118968955 + 118513650 118514235 + 119379687 119380272 + 12706105 359760 ABBA01036690;AC004973;AMYH02040327;AY135303;NG_002876 pseudo HGNC:29739 INFERRED 1346345 MRPS18A mitochondrial ribosomal protein S18A Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 6 6 6 p21.3 45190561 45207176 - 43638934 43655549 - 43671197 43687812 - 1302857;1580863;6480464;8554872 11279123 11402041;11543634;12477932;12706105;14574404;14702039;15489334;17207965;19913121;20186120;20628086;20877624;21139048;21832049;24816145 55168 Q5QPA5;Q9NVS2 AB049952;ABBA01050669;AK001410;AK300757;AK307183;AL136131;AMYH02013650;BC010364;CA420521;CH471081;DQ884400;NM_001193343;NM_018135;XM_006715134 AAH10364;ABI63367;ADQ32634;BAA91675;BAB41005;BAG62423;EAX04224;EAX04225;NP_001180272;NP_060605;Q9NVS2;XP_006715197 Hs.520149 1663564;1665408;1680829;2138805 D6S1173E;RH81005;STS-W44431;WI-14320 FLJ10548;HumanS18b;MRP-S18-3;MRPS18-3;S18bmt 28S ribosomal protein S18-3, mitochondrial;28S ribosomal protein S18a, mitochondrial;MRP-S18-a;OTTHUMP00000016497;OTTHUMP00000016498;OTTHUMP00000016499;S18mt-a;mitochondrial ribosomal protein S18-3 APPROVED protein-coding ENSG00000096080 HGNC:14515 14780 611981 REVIEWED 4144452 MRPS18AP1 mitochondrial ribosomal protein S18A pseudogene 1 3 3 3 p21.31 48248095 48249004 - 48297530 48298439 - 48256040 48256949 - 12706105 359761 ABBA01024652;AC104190;AMYH02006715;AY135304;NG_002877 pseudo HGNC:29740 INFERRED 1349132 MRPS18B mitochondrial ribosomal protein S18B Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 32183604 32192292 + 30585275 30594174 + 30617498 30626397 + 1302857;1580863;6480464 11279123 11042152;11402041;12477932;12706105;15231747;15342556;15489334;16189514;16196087;16702430;17353931;18391203;19851445;20186120;20360068;20877624;21139048;21145461;22939629;23443559;23892058;24244333;24250222;24816145 28973 B0S7P4;B4DFG6;Q9Y676 AB110933;AB110934;AB202094;ABBA01038051;AF100761;AF151017;AK294086;AK311890;AL050361;AL662800;AL662825;AL732442;AL845353;AMYH02013437;BC005373;BE220785;BG773408;BP369345;BX119957;BX248507;BX908728;CH471081;CR753328;CR759778;NM_014046;XM_005249030;XM_005272798;XM_005274944;XM_005275098;XM_005275236;XM_005275374;XM_005275534 AAD43025;AAF36103;AAH05373;BAD13699;BAD13700;BAE78614;BAG34831;BAG57427;CAH56415;EAX03304;EAX03305;NP_054765;Q9Y676;XP_005249087;XP_005272855;XP_005275001;XP_005275155;XP_005275293;XP_005275431;XP_005275591 Hs.655329 1697858 RH102456 C6orf14;DKFZp564H0223;HSPC183;HumanS18a;MRP-S18-2;MRPS18-2;PTD017;S18amt 28S ribosomal protein S18-2, mitochondrial;28S ribosomal protein S18b, mitochondrial;MRP-S18-b;OTTHUMP00000029404;OTTHUMP00000163697;S18mt-b;mitochondrial ribosomal protein S18-2;mrps18-b APPROVED protein-coding ENSG00000204568 HGNC:14516 14781 611982 REVIEWED 4144455 MRPS18BP1 mitochondrial ribosomal protein S18B pseudogene 1 1 1 1 q41 189598755 189598946 - 216374400 216375168 - 216201058 216201826 - 12706105 359762 ABBA01048123;AC138024;AMYH02002683;AY135305;NG_002878;NG_009497 pseudo HGNC:29741 INFERRED 4144453 MRPS18BP2 mitochondrial ribosomal protein S18B pseudogene 2 2 2 2 q22.1 134137728 134138503 + 140426104 140426879 + 139668535 139669310 + 12706105 359763 ABBA01028113;AC012497;AMYH02004884;AY135306;NG_002879 pseudo HGNC:29742 INFERRED 1317511 MRPS18C mitochondrial ribosomal protein S18C Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq, Jul 2008] 4 4 4 q21.23 81667571 81673381 + 84377085 84382929 + 83455932 83461776 + 1302857;1580863;6480464;8554872 11279123 10810093;12477932;12706105;14702039;15489334;16344560;17207965;20379614;20877624;21890473;22505724;22990118 51023 D6RCM2;D6RE70;H0Y9W2;H0YAG5;Q9Y3D5 ABBA01063465;AC096768;AF151892;AK002008;AK026620;AMYH02009618;BC005186;BE874586;CA455563;CH471057;CN262115;DA446717;DB141267;NM_001297767;NM_001297769;NM_001297770;NM_016067;XM_005263043 AAD34129;AAH05186;ADQ31594;EAX05937;EAX05938;EAX05939;EAX05940;NP_001284696;NP_001284698;NP_001284699;NP_057151;Q9Y3D5;XP_005263100 Hs.334772;Hs.436161 5020416;5037552 D8S2279;G06935 CGI-134;FLJ11146;FLJ22967;MRP-S18-1;MRPS18-1 28S ribosomal protein S18-1, mitochondrial;28S ribosomal protein S18c, mitochondrial;MRP-S18-c;OTTHUMP00000160986;OTTHUMP00000219795;OTTHUMP00000219796;OTTHUMP00000220290;OTTHUMP00000220291;S18mt-c;mitochondrial ribosomal protein S18-1;mrps18-c APPROVED protein-coding HGNC:16633 14782 611983 REVIEWED 1351675 MRPS18CP2 mitochondrial ribosomal protein S18C pseudogene 2 8 8 8 p23.1 7919460 7919752 - 8791228 8791520 - 8933718 8934010 - 12706105;18154640 286043 ABBA01026913;AC087763;AMYH02017400;AY135308;NG_002666 1787832 SHGC-173515 pseudo HGNC:29743 INFERRED 4144449 MRPS18CP3 mitochondrial ribosomal protein S18C pseudogene 3 8 8 8 p21.3 16910272 16910500 + 17944386 17945198 + 18086877 18087689 + 12706105 359764 ABBA01021575;AC124242;AMYH02017545;AY135309;NG_002880;NG_008985 pseudo HGNC:29744 INFERRED 1344844 MRPS18CP4 mitochondrial ribosomal protein S18C pseudogene 4 12 12 12 p13.31 19534949 19535012 + 14390195 14390258 + 14237261 14237324 + 12706105 349842 ABBA01067869;AC092112;AMYH02026088;AY135310;NG_002839 pseudo HGNC:29745 INFERRED 4144451 MRPS18CP5 mitochondrial ribosomal protein S18C pseudogene 5 15 15 15 q11.2 4335000 4335430 - 26173293 26173723 - 25928146 25928576 - 12706105 359765 ABBA01048700;AC044913;AMYH02030102;AY135311;NG_002881 pseudo HGNC:29746 INFERRED 1349276 MRPS18CP6 mitochondrial ribosomal protein S18C pseudogene 6 22 22 22 q13.31 28791226 28791510 - 44879324 44879608 - 44483444 44483728 - 12706105 343901 ABBA01017867;AMYH02038493;AY135312;NG_002835;Z81308 pseudo HGNC:29747 INFERRED 1345475 MRPS19 mitochondrial ribosomal protein S19 1302857 11279123 11943462 HGNC:14506 1319275 MRPS2 mitochondrial ribosomal protein S2 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] 9 9 9 q34 108909613 108913649 + 138392477 138396519 + 135499988 135504673 + 1580863;6480464 10810093;11279123;11402041;11543634;12477932;12706105;15489334;20186120;20877624;21139048;21145461;21182203;21832049;21906983;21963094;22904065;22939629;23443559;23473034;24654937;24816145;25027693 51116 Q5T8A0;Q9Y399 AB051627;AB055388;ABBA01030037;AF151849;AI300329;AL161452;AL555185;AMYH02021871;BC004905;BC008017;BC013108;BE264885;BI260471;BQ065672;BQ723448;BU169388;BX362434;CH471090;NM_016034;NR_051967;NR_051968;NR_051969;NR_051970;XM_006717136 AAD34086;AAH04905;AAH08017;AAH13108;BAB54954;BAB62529;EAW88152;EAW88153;NP_057118;Q9Y399;XP_006717199 Hs.382044 1796352;2155341 MRPS2_936;RH11868 CGI-91;MRP-S2;S2mt 28S ribosomal protein S2, mitochondrial;OTTHUMP00000022545;OTTHUMP00000022546;mitochondrial 28S ribosomal protein S2 APPROVED protein-coding ENSG00000122140 HGNC:14495 14783 611971 REVIEWED 1347127 MRPS20 mitochondrial ribosomal protein S20 1302857 11279123 11943462 HGNC:14507 1316574 MRPS21 mitochondrial ribosomal protein S21 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008] 1 1 1 q21 123382001 123396548 + 150266262 150281414 + 150293842 150308979 + 6480464 11279123;11402041;11543634;12477932;12706105;15489334;19615732;20186120;20877624;21145461;21890473;22939629;23443559;23942779;24457600;8619474;9110174 54460 P82921;Q99768 AA977333;AB049955;AB051353;ABBA01049331;ABBA01049332;AC242988;AF182417;AK058101;AK289467;AL138795;BC004566;BC006554;BG037004;BI755132;CH471121;HY161691;NM_018997;NM_031901;U79258 AAB50204;AAG14953;AAH04566;AAH06554;BAB41008;BAB71666;BAF82156;CAI22820;EAW53557;EAW53558;EAW53559;NP_061870;NP_114107;P82921 Hs.405880 1655460;1850358;2153687;5037552 D8S2279;RH16371;SGC32664;SHGC-32206 MDS016;MRP-S21;RPMS21;S21mt 28S ribosomal protein S21, mitochondrial;OTTHUMP00000014527;OTTHUMP00000014921;mitochondrial 28S ribosomal protein S21 APPROVED protein-coding ENSG00000266472 HGNC:14046 14784 611984 REVIEWED 1342901 MRPS21P1 mitochondrial ribosomal protein S21 pseudogene 1 1 1 1 p31.3 63848617 63849100 - 65557885 65558368 - 65092202 65092685 - 12706105 199900 ABBA01074549;AL357078;AMYH02001176;AY135313;NG_002663 pseudo HGNC:29748 INFERRED 1604463 MRPS21P2 mitochondrial ribosomal protein S21 pseudogene 2 1 1 1 q22 130902101 130902578 + 157830929 157831406 + 157861139 157861616 + 12706105 359766 ABBA01016636;AL139409;AMYH02001998;AY135314;NG_002882 pseudo HGNC:29749 INFERRED 1604462 MRPS21P3 mitochondrial ribosomal protein S21 pseudogene 3 1 1 1 q31.2 170458208 170458833 + 197332914 197333342 + 197363784 197364212 + 12706105 359767 ABBA01027592;AL513325;AMYH02002431;AY135315;NG_002883;NG_008483 pseudo HGNC:29750 INFERRED 1604461 MRPS21P4 mitochondrial ribosomal protein S21 pseudogene 4 9 9 9 p13.1 36343766 36343910 + 36410487 36410631 + 36410490 36410634 + 12706105 359768 ABBA01050429;AL354935;AMYH02019478;AY135316;NG_002884 pseudo HGNC:29751 INFERRED 1604460 MRPS21P5 mitochondrial ribosomal protein S21 pseudogene 5 10 10 10 p12.1 28056998 28057267 + 28293595 28293864 + 28004666 28004935 + 12706105 359769 ABBA01034380;AL390866;AMYH02022523;AY135317;NG_002885 pseudo HGNC:29752 INFERRED 1604459 MRPS21P6 mitochondrial ribosomal protein S21 pseudogene 6 10 10 10 q26 120628871 120629343 + 126855188 126855665 + 125166619 125167096 + 12706105 359770 ABBA01034164;AL157888;AMYH02023991;AY135318;NG_002886 1850358 SGC32664 pseudo HGNC:29753 INFERRED 1604458 MRPS21P7 mitochondrial ribosomal protein S21 pseudogene 7 16 16 16 q12.1 34254960 34255219 + 49741912 49742171 + 49708001 49708260 + 12706105 359771 ABBA01000890;AC027348;AMYH02032001;AY135319;NG_002887;NG_032972 pseudo ENSG00000260024 HGNC:29754 INFERRED 1344442 MRPS21P8 mitochondrial ribosomal protein S21 pseudogene 8 16 16 16 q12.1 34311427 34311686 + 49798364 49798623 + 49764453 49764712 + 12706105 350297 ABBA01000890;AC027348;AMYH02032001;AY135320;NG_002840;NG_032972 pseudo HGNC:29755 INFERRED 1604457 MRPS21P9 mitochondrial ribosomal protein S21 pseudogene 9 17 17 17 q21 44989126 44989391 - 48527830 48528096 - 50450469 50450735 - 12706105 359772 ABBA01041240;AC021491;AMYH02033592;AY135321;NG_002888 pseudo HGNC:29756 INFERRED 1353996 MRPS22 mitochondrial ribosomal protein S22 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008] 3 3 3 q23 137485814 137498839 + 139062861 139075888 + 139343994 139357174 + 1580863;6480464;7240710;8554872;8699517 10938081;11175783;11279123;11543634;12477932;12706105;15081106;15489334;16196087;16236267;16303743;17314511;17353931;17873122;18029348;18539099;20020773;20186120;20360068;20877624;21139048;21145461;21182203;21890473;21906983;21907836;22013104;22904065;22939629;22990118;23184937;23246001;23251661;23443559;23473034;23667531;23973329;24244333;24457600;24816145;25027693 56945 C9J5D8;G5E9V5;G5E9W7;H7C5F2;H7C5H3;H7C5L9;P82650 AB061314;AB208981;ABBA01059064;AC024933;AF063603;AF226045;AF321613;AK075436;AK292852;AL110129;AMYH02007788;BC009296;CH471052;NG_012174;NM_020191;XM_005247640;XM_006713703 AAF86945;AAG43162;AAH09296;AAK01406;BAB54962;BAC11619;BAD92218;BAF85541;EAW79041;EAW79042;EAW79043;EAW79044;EAW79045;NP_064576;P82650;XP_005247697;XP_006713766 Hs.745001 1656370;1678459;1683699;2156933;5015861;7185938 A004F45;D10S16;RH93370;RH98266;STS-N62924 C3orf5;COXPD5;GIBT;GK002;MRP-S22;RPMS22;S22mt 28S ribosomal protein S22, mitochondrial;OTTHUMP00000216955;OTTHUMP00000216957;OTTHUMP00000216958 APPROVED protein-coding ENSG00000175110 HGNC:14508 10430 605810;611719 REVIEWED 4144447 MRPS22P1 mitochondrial ribosomal protein S22 pseudogene 1 X X X q21.31 87302912 87303372 - 87064282 87064738 - 87809282 87809738 - 12706105 359773 ABBA01051934;AL136363;AMYH02039917;AY135322;NG_002889 pseudo HGNC:29757 INFERRED 1315875 MRPS23 mitochondrial ribosomal protein S23 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq, Jul 2008] 17 17 17 q22-q23 52378620 52389180 - 55916287 55927433 - 57838926 57850072 - 1580863;6480464 10810093;10938081;11279123;11543634;12477932;12706105;15489334;16159877;18029348;19738201;20186120;20379614;20877624;21145461;21890473;22623428;22904065;22939629;23184937;23443559;23973329;24244333;24583282 51649 J3QLC1;J3QLR8;Q9Y3D9 AB061206;ABBA01041318;ABBA01041319;AC015845;AF151896;AF161447;AK312729;AMYH02033679;AW299554;BC000242;BI962985;BX479815;CH471109;NM_016070 AAD34133;AAF29007;AAH00242;BAB54956;BAG35600;EAW94503;NP_057154;Q9Y3D9 Hs.5836 2176583 STS-AA025002 CGI-138;HSPC329;MRP-S23;S23mt 28S ribosomal protein S23, mitochondrial APPROVED protein-coding HGNC:14509 17592 611985 REVIEWED 1354385 MRPS23P1 mitochondrial ribosomal protein S23 pseudogene 1 7 7 7 p13 45057948 45058851 + 44959186 44960089 + 44919587 44920490 + 12706105 352290 ABBA01058240;AC004847;AC004854;AMYH02015630;AY135323;CH236960;NG_002844 pseudo HGNC:29758 INFERRED 1314387 MRPS24 mitochondrial ribosomal protein S24 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 11. Read-through transcription exists between this gene and the upstream upregulator of cell proliferation (URGCP) gene. [provided by RefSeq, Mar 2011] 7 7 7 p14 43896023 43899010 - 43906157 43909145 - 43866558 43869546 - 6480464 10938081;11279123;11402041;11543634;12477932;12690205;12706105;15489334;17207965;17353931;20186120;20877624;21832049;22087225;23251661;23443559;24654937;8127713;9653160 64951 F2Z310;Q96EL2 AB061207;ABBA01058197;AC004985;AF161453;AMYH02015612;BC012167;BC054865;CA413186;CH236951;CH471073;NM_032014 AAF29013;AAH12167;AAH54865;ADQ33181;BAB54957;EAL24009;EAW94172;EAW94173;NP_114403;Q96EL2 Hs.284286 1683952;1774321;2148849;2219174 D7S2778;D7S2880;MRPS24_2828;RH98238 HSPC335;MRP-S24;S24mt;bMRP-47;bMRP47 28S ribosomal protein S24, mitochondrial;OTTHUMP00000159213;mitochondrial 28S ribosomal protein S24 APPROVED protein-coding ENSG00000062582 HGNC:14510 17593 611986 VALIDATED 1352075 MRPS24P1 mitochondrial ribosomal protein S24 pseudogene 1 11 11 11 p15.4 255063 255737 + 303710 304376 - 303710 304376 - 12706105 338389 ABBA01011170;AC136475;AMYH02024129;AY135324;NG_002650;NG_032892 pseudo HGNC:29759 INFERRED 1318737 MRPS25 mitochondrial ribosomal protein S25 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 4. [provided by RefSeq, Jul 2008] 3 3 3 p25 15028290 15045083 - 15083758 15106839 - 15048512 15065334 - 1580863;6480464 10938081;11214971;11279123;11543634;12477932;12706105;14702039;15489334;16751776;17207965;17342744;17353931;18029348;20186120;20877624;21139048;21145461;22904065;22939629;23443559;23473034;24250222;24816145 64432 E7EPW2;P82663 AB061208;ABBA01025147;AC090954;AI288348;AK024433;AK024702;AK098361;AK294123;AK298791;AL597886;AMYH02006327;BC003590;CH471055;CR933615;DQ573146;NM_022497;XM_006713298 AAH03590;ADQ32832;BAB14968;BAB15723;BAB54958;BAG57456;BAG60928;EAW64217;EAW64218;EAW64219;NP_071942;P82663;XP_006713361 Hs.657764;Hs.715617 1657696;1699024;1777478;1846983;2168368;5024543 D1S3690;RH103085;RH12078;SHGC-76738;SHGC-76739;WI-13654 DKFZp313H0817;FLJ00023;MRP-S25;RPMS25;S25mt 28S ribosomal protein S25, mitochondrial;OTTHUMP00000160273;OTTHUMP00000208264;OTTHUMP00000208265;OTTHUMP00000208266;OTTHUMP00000209537;mitochondrial 28S ribosomal protein S25 APPROVED protein-coding ENSG00000131368 HGNC:14511 17594 611987 REVIEWED 1343711 MRPS25P1 mitochondrial ribosomal protein S25 pseudogene 1 4 4 4 q21.23 78536191 78536710 + 81242694 81243213 + 80321540 80322059 + 12706105 338390 ABBA01063403;AC021127;AMYH02009564;AY135325;NG_002651 pseudo HGNC:29760 INFERRED 1318680 MRPS26 mitochondrial ribosomal protein S26 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene. [provided by RefSeq, Jul 2008] 20 20 20 p13 3088662 3090883 + 3026675 3028896 + 3046029 3048250 + 1580863;6480464 11279123;11543634;11780052;12477932;12706105;12747765;15300802;15489334;16169070;16248985;17207965;18029348;19615732;20186120;20360068;20877624;21145461;22904065;22939629;23402259;23443559;23473034;23667531;24457600;24816145;9857009 64949 Q9BYN8;Q9H273 AB051354;ABBA01053804;AF110983;AF308301;AL121905;AMYH02036591;BC013018;BI115733;CH471133;NM_030811 AAG48268;AAH13018;ADQ33193;BAB54943;EAX10556;NP_110438;Q9BYN8 Hs.18946 1684088;1770898;1856300 RH64129;RH75550;WIAF-1568 C20orf193;GI008;MRP-S13;MRP-S26;MRPS13;NY-BR-87;RPMS13;S13mt;S26mt;dJ534B8.3 28S ribosomal protein S13, mitochondrial;28S ribosomal protein S26, mitochondrial;OTTHUMP00000030073;serologically defined breast cancer antigen NY-BR-87 APPROVED protein-coding ENSG00000125901 HGNC:14045 17595 611988 REVIEWED 1323490 MRPS27 mitochondrial ribosomal protein S27 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013] 5 5 5 q13.2 67410623 67511470 - 71515236 71616084 - 72219409 72320257 - 1580863;6480464 11279123;11344316;12477932;12706105;14702039;15161933;17207965;17643375;19103604;19322201;20020773;20186120;20877624;21139048;21145461;21182203;21906983;21907836;22841715;22904065;22939629;22952844;23184937;23443559;23455922;23473034;24244333;24816145;9039502 23107 D6RH20;D6RJC7;E5RJ73;G5EA06;Q6PKB3;Q92552 ABBA01061902;ABBA01061903;ABBA01061904;AC012609;AC026406;AK025417;AK027001;AK095964;AK128683;AK296581;AK299412;AK300111;AK309065;AMYH02011553;BC003632;BC011818;BC030521;BC064902;BM995930;CH471084;D87453;DC341760;NM_001286748;NM_001286751;NM_015084 AAH03632;AAH30521;AAH64902;ADQ32593;BAA13394;BAG54710;BAG59201;BAG61394;BAG61906;EAW95701;EAW95702;EAW95703;NP_001273677;NP_001273680;NP_055899;Q92552 Hs.482491 1657801;1735468;2122166;2134469;2148290;5015961 D15S1477;D5S1591E;G09511;RH66300;SHGC-13726;T03460 FLJ21764;FLJ23348;FLJ38645;KIAA0264;MRP-S27;S27mt 28S ribosomal protein S27, mitochondrial;OTTHUMP00000126943;OTTHUMP00000223555;OTTHUMP00000223883;OTTHUMP00000226222;OTTHUMP00000226223;mitochondrial 28S ribosomal protein S27 APPROVED protein-coding ENSG00000113048 HGNC:14512 17596 611989 REVIEWED 1313591 MRPS28 mitochondrial ribosomal protein S28 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008] 8 8 8 q21.1-q21.2 76835374 76946728 - 80830952 80942516 - 79918860 80030271 - 1302857;1580863;6480464 11279123 10751423;10938081;11042152;11543634;12477932;12706105;15489334;18029348;19738201;20186120;20877624;21139048;21145461;21890473;22190034;22904065;22939629;23443559;23473034;24244333;24816145;8125298 28957 E5RFH3;E5RFT8;E5RGC7;E5RK86;H0YAT2;H0YC42;H7C5V3;Q9Y2Q9;U3KQQ8 AB061209;ABBA01004073;ABBA01004074;AC009686;AC018952;AC036214;AF070663;AK026506;AK223069;AK315739;AMYH02018290;AMYH02018291;AMYH02018292;AMYH02018293;BC010150;CH471068;NM_014018 AAD20969;AAH10150;ADZ15798;BAB54959;BAD96789;BAG38094;EAW87069;EAW87070;EAW87071;EAW87072;NP_054737;Q9Y2Q9 Hs.521124 1657821;1677092;1719127;2157919;2181559 G17279;RH123281;RH36351;RH98635;STS-AA010860 FLJ22853;HSPC007;MRP-S28;MRP-S35;MRPS35;S28mt;S35mt 28S ribosomal protein S28, mitochondrial;28S ribosomal protein S35, mitochondrial;OTTHUMP00000227102;mitochondrial 28S ribosomal protein S35 APPROVED protein-coding ENSG00000147586 HGNC:14513 10097 611990 REVIEWED 1344118 MRPS3 mitochondrial ribosomal protein S3 1302857 11279123 11943462 HGNC:14496 1320179 MRPS30 mitochondrial ribosomal protein S30 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008] 5 5 5 q11 44701944 44708532 + 44809027 44815616 + 44808925 44815514 + 1302857;1580863;6480464 11279123 10640817;11042152;11230166;11543634;12477932;12706105;14702039;15489334;19789366;20186120;20800603;20872241;20877624;21906983;21963094;21987572;22904065;22939629;23402259;24388359;24816145;8125298;8889548 10884 Q9BUN6;Q9NP92 AB061211;ABBA01024274;AC093297;AF146192;AF217523;AK074777;AK222704;AK222894;AL136706;AL355715;AL355716;AMYH02011255;BC002460;BC007735;BU676154;CH471119;CQ782712;NM_016640 AAF65227;AAF67634;AAH02460;AAH07735;ADZ15384;BAB54961;BAC11202;BAD96424;BAD96614;CAB66641;CAB90810;CAB90811;CAF85946;EAW56076;NP_057724;Q9NP92 Hs.124165 1686494;2107409;2162165 MRPS30_2960.2;RH78328;SHGC-186 DKFZp566B2024;MRP-S30;PAP;PDCD9;S30mt (HSA)PAP protein;28S ribosomal protein S30, mitochondrial;OTTHUMP00000122439;programmed cell death 9;programmed cell death protein 9 APPROVED protein-coding ENSG00000112996 HGNC:8769 17597 611991 REVIEWED 1316990 MRPS31 mitochondrial ribosomal protein S31 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008] 13 13 13 q14.11 22360890 22402790 - 41303432 41345347 - 40729296 40771211 - 1302857;1580863;6480464 11279123 11984006;12477932;12706105;15057823;15489334;16169070;16196087;19615732;20186120;20877624;21145461;21182203;21890473;21988832;22939629;23473034;23973329;24244333;24816145 10240 Q92665 ABBA01021290;ABBA01021291;ABBA01021292;AI343737;AI343739;AK315248;AL161614;AL355132;AMYH02027907;AV712217;BC010159;BC022045;CH471075;NM_005830;Z68747 AAH22045;ADZ15910;BAG37670;CAA92951;EAX08629;NP_005821;Q92665 Hs.596607 1733286;2111105;2117308;2169203;2169205;2182633;5105449 A005M06;D13S237E;D13S639;G20325;SGC33523;SHGC-104682;SHGC-34025 IMOGN38;MRP-S31;S31mt 28S ribosomal protein S31, mitochondrial;OTTHUMP00000018305;imogen 38 APPROVED protein-coding ENSG00000102738 HGNC:16632 10098 611992 REVIEWED 1344035 MRPS31P1 mitochondrial ribosomal protein S31 pseudogene 1 3 3 3 p21.33 41168944 41169156 + 41230521 41230733 + 41189030 41189242 + 12706105 351449 ABBA01024789;AC104307;AMYH02006602;AY135328;NG_002842 pseudo HGNC:29763 INFERRED 4889286 MRPS31P2 mitochondrial ribosomal protein S31 pseudogene 2 13 13 13 q12.11 1188553 1204807 - 20126710 20142962 - 19552570 19568822 - 12706105 341757 ABBA01068556;AL359457;AMYH02027616;AMYH02027617;AY135329;NG_004674 2182633;5105449 SHGC-104682;SHGC-34025 pseudo HGNC:39252 INFERRED 6483490 MRPS31P4 mitochondrial ribosomal protein S31 pseudogene 4 13 13 53191693 53211581 + 52617558 52637446 + 100885866 ABBA01037066;AL137058;NG_032700 pseudo HGNC:42649 INFERRED 6483994 MRPS31P5 mitochondrial ribosomal protein S31 pseudogene 5 INTERACTS WITH cobalt dichloride 13 13 q 52741844 52768602 - 52167709 52194467 - 6480464 16344560 100887750 ABBA01051059;AK027536;AK307124;AK307345;AK309380;AL139082;AL158066;AMYH02028041;BX648914;DA732370;KF455779;KF459796;NR_002816;NR_051963;NR_051964;NR_051965 Hs.553878 1342109;1656615;2111392;2123730 D17S1355E;D1S1170;RH66294;STS-AA035456 DKFZp434F1622;DKFZp686O21268;FLJ14630;FLJ97072;FLJ97293;FLJ99421;MRPS31P3 APPROVED pseudo ENSG00000243406 HGNC:39253 VALIDATED 1319435 MRPS33 mitochondrial ribosomal protein S33 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5' UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q [provided by RefSeq, Jul 2008] 7 7 7 q34 135427986 135436803 - 140705961 140714781 - 141006161 141014981 - 1302857;1580863;6480464 11279123 10810093;12477932;12690205;12706105;12853948;15489334;16196087;17567985;20877624;24816145;9847074 51650 A4D1T3;C9JBY7;Q3KRB4;Q9Y291 AA743808;ABBA01034092;AC006006;AF078858;AF151897;AI305281;AK024776;AMYH02016912;AMYH02016913;BC015462;BC105793;BP870829;BQ420818;CH236950;CH471070;NM_016071;NM_053035;W95986 AAD34134;AAD43190;AAD44490;AAH15462;AAI05794;EAL24022;EAW83966;EAW83967;NP_057155;NP_444263;Q9Y291 Hs.416207 2170377;2178960 G33823;SHGC-36481 CGI-139;FLJ21123;MRP-S33;PTD003;S33mt 28S ribosomal protein S33, mitochondrial;OTTHUMP00000212179;OTTHUMP00000212180;OTTHUMP00000212181 APPROVED protein-coding ENSG00000090263 HGNC:16634 17598 611993 REVIEWED 1344754 MRPS33P1 mitochondrial ribosomal protein S33 pseudogene 1 1 1 1 q21.3 127422135 127422301 - 154350428 154350594 - 154377952 154378118 - 12706105;19773279 148330 ABBA01049482;AL162591;AMYH02001921;AY135333;NG_002830 pseudo HGNC:29764 INFERRED 4144450 MRPS33P2 mitochondrial ribosomal protein S33 pseudogene 2 4 4 4 p14 38448701 38449022 - 38008405 38008726 - 38006784 38007105 - 12706105 359775 ABBA01074317;AC021106;AMYH02009033;AY135334;NG_002891 pseudo HGNC:29765 INFERRED 4144444 MRPS33P3 mitochondrial ribosomal protein S33 pseudogene 3 4 4 4 q26 113356926 113357247 + 116064138 116064459 + 115142982 115143303 + 12706105 359776 ABBA01063847;AC093656;AMYH02009962;AY135335;NG_002892 2178960 G33823 pseudo HGNC:29766 INFERRED 4144448 MRPS33P4 mitochondrial ribosomal protein S33 pseudogene 4 20 20 20 q13.13 47832505 47832756 + 51127838 51128089 + 52511299 52511550 + 12706105;23563607 359777 ABBA01052834;AL049765;AMYH02037282;AY135336;NG_002893 pseudo HGNC:29767 INFERRED 1313761 MRPS34 mitochondrial ribosomal protein S34 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 16 16 16 p13.3 2034171 2035419 - 1821891 1823152 - 1771890 1773151 - 1580863;6480464;8554872 10751423;11279123;12477932;12507520;12706105;15489334;17314511;17353931;18029348;19615732;19738201;20020773;20186120;20360068;20877624;21139048;21145461;21890473;21963094;22904065;22939629;23443559;23473034;24816145 65993 C9JJ19;P82930 ABBA01030296;AC012180;AMYH02031235;AV709743;AX405645;AX405646;BC001182;CH471112;HY279576;NM_001300900;NM_023936;XM_005255511;XM_005255512 AAH01182;ADZ15685;CAD34752;CAD34753;EAW85627;EAW85628;NP_001287829;NP_076425;P82930;XP_005255568;XP_005255569 Hs.720388 1796354;2180351 MRPS34_1407;RH36357 MGC2616;MRP-S12;MRP-S34;MRPS12;S34mt 28S ribosomal protein S34, mitochondrial;OTTHUMP00000158801;OTTHUMP00000158802 APPROVED protein-coding ENSG00000074071 HGNC:16618 17599 611994 REVIEWED 1315499 MRPS35 mitochondrial ribosomal protein S35 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010] 12 12 12 p11 33009297 33054807 + 27863706 27909237 + 27710773 27756304 + 1302857;1580863;6480464 11279123 11344316;11543634;12477932;12706105;15300802;15489334;16196087;16303743;16344560;19615732;20186120;20360068;20877624;21139048;21145461;22939629;23443559;23667531 60488 F5H612;H0YFD1;H0YG82;P82673 ABBA01068049;ABBA01068050;AC009509;AF068296;AF182422;AI538796;AK075378;AK075515;AL512733;AMYH02026246;BC015862;BC017086;BC028346;BC063515;BC109372;CH471094;CS051169;CS051349;DA747094;NM_001190864;NM_021821 AAF65185;AAG14958;AAH15862;AAH17086;AAH28346;AAH63515;AAI09373;BAC11579;BAC11664;CAC21665;CAI72080;CAI72169;EAW96567;EAW96568;NP_001177793;NP_068593;P82673 Hs.714076 1679686;1705852;1796356;1847916;1849866;2118665;2172406 D12S2136;D12S2143;MRPS35_937;RH45013;RH93577;SHGC-81184;WI-20340 DKFZp762P093;HDCMD11P;MDS023;MGC104278;MRP-S28;MRP-S35;MRPS28;S28mt;S35mt 28S ribosomal protein S28, mitochondrial;28S ribosomal protein S35, mitochondrial;OTTHUMP00000240420;OTTHUMP00000240422;OTTHUMP00000240424;mitochondrial ribosomal protein S28 APPROVED protein-coding ENSG00000061794 HGNC:16635 11373 611995 REVIEWED 1351434 MRPS35P1 mitochondrial ribosomal protein S35 pseudogene 1 3 3 3 p25.3 5426485 5426612 + 5488662 5488789 + 5446976 5447103 + 12706105 339910 ABBA01020454;AC090842;AMYH02006191;AY135337;NG_002832 pseudo HGNC:29768 INFERRED 4144443 MRPS35P2 mitochondrial ribosomal protein S35 pseudogene 2 5 5 5 q15 93622464 93622642 - 97738247 97738425 - 98402543 98402721 - 12706105 359778 ABBA01069211;AC094106;AMYH02011843;AY135338;NG_002894 pseudo HGNC:29769 INFERRED 1350185 MRPS35P3 mitochondrial ribosomal protein S35 pseudogene 3 10 10 10 q21 53007499 53008042 + 59742233 59742771 + 57982473 57983011 + 12706105;24001895 359779 ABBA01019433;AC006484;AMYH02023156;AY135339;NG_002895 pseudo HGNC:29770 INFERRED 1319596 MRPS36 mitochondrial ribosomal protein S36 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008] 5 5 5 q13.2 65512825 65528390 + 68513573 68525985 + 69217746 69230158 + 1302857;1580863;6480464 11279123 12477932;12706105;15489334;17207965;18029348;20877624;21139048;21890473;22939629;24816145 92259 D6R941;P82909 AA780181;ABBA01048280;ABBA01048281;ABBA01048282;AC093223;AC145132;AF086034;AF271777;AL529370;AMYH02011470;BC015966;BC017900;BX951861;CH471137;NM_033281 AAG44788;AAH15966;AAH17900;ADQ33147;EAW51302;EAW51303;NP_150597;P82909 Hs.631971 1689622;1733360;1733500;2182556 D5S1413;D5S1416;D5S602;RH94105 DC47;MGC22896;MRP-S36;S36mt 28S ribosomal protein S36, mitochondrial;OTTHUMP00000222036 APPROVED protein-coding ENSG00000134056 HGNC:16631 17600 611996 VALIDATED 1605223 MRPS36P1 mitochondrial ribosomal protein S36 pseudogene 1 3 3 3 p25.3 6752271 6752580 - 6814724 6815033 - 6773037 6773346 - 12706105 347705 ABBA01020441;AC023485;AMYH02006206;AY135340;NG_002709 pseudo HGNC:29771 INFERRED 1605222 MRPS36P2 mitochondrial ribosomal protein S36 pseudogene 2 4 4 4 q35.1 185141959 185142061 + 187821893 187821995 + 186900739 186900841 + 12706105;20339536 347706 ABBA01070569;AC108865;AMYH02010686;AY135341;NG_002711 pseudo HGNC:29772 INFERRED 1605224 MRPS36P3 mitochondrial ribosomal protein S36 pseudogene 3 8 8 8 q24.13 119292795 119292927 + 123103709 123103841 + 122091470 122091602 + 12706105 347704 ABBA01037857;AC037486;AMYH02018693;AY135342;NG_002707 pseudo HGNC:29773 INFERRED 1605226 MRPS36P4 mitochondrial ribosomal protein S36 pseudogene 4 11 11 11 q23.2 109232555 109232856 + 112079320 112079621 + 112208597 112208898 + 12706105 347702 ABBA01039801;AMYH02025586;AP002884;AY135343;NG_002703 pseudo HGNC:29774 INFERRED 1605225 MRPS36P5 mitochondrial ribosomal protein S36 pseudogene 5 12 12 12 q12 42249796 42250097 - 43447886 43448187 - 43054083 43054384 - 12706105 347703 ABBA01031413;AC079319;AMYH02026371;AY135344;NG_002705 pseudo HGNC:29775 INFERRED 1605221 MRPS36P6 mitochondrial ribosomal protein S36 pseudogene 6 20 20 20 p12.1 13456567 13456787 - 13386497 13386717 - 13405850 13406070 - 12706105 347707 ABBA01053964;AL121782;AMYH02036721;AY135345;NG_002713 pseudo HGNC:29776 INFERRED 1318020 MRPS5 mitochondrial ribosomal protein S5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008] 2 2 2 p11.2-q11.2 90103862 90138778 - 95752952 95787754 - 95087207 95122009 - 1580863;6480464 11279123;11344316;11402041;11543634;12477932;12706105;14702039;15489334;17353931;19559069;20186120;21139048;21145461;22904065;22939629;23000965;23443559;24816145;25027693 64969 P82675 AB049940;ABBA01003574;ABBA01003575;ABBA01003576;AC092835;AK055390;AK058160;AMYH02004297;BC000219;BC014172;BG771419;CH471219;NM_031902;XM_006712694 AAH00219;AAH14172;AAX88980;ABM83546;ABM86786;BAB40993;BAB71695;EAX10712;EAX10713;NP_114108;P82675;XP_006712757 Hs.655259 1651030;1677096;1717051;2133963;2217640 A003B25;D2S1681E;MRPS5_2701;RH124030;RH93830 MRP-S5;S5mt 28S ribosomal protein S5, mitochondrial;OTTHUMP00000160940;OTTHUMP00000207351;mitochondrial 28S ribosomal protein S5 APPROVED protein-coding ENSG00000144029 HGNC:14498 10099 611972 REVIEWED 1354008 MRPS5P3 mitochondrial ribosomal protein S5 pseudogene 3 5 5 5 q23.2 122609035 122610515 - 126478171 126479651 - 127142479 127143959 - 12706105 133615 ABBA01068884;AC011416;AMYH02012161;AY135348;NG_002662 pseudo HGNC:29778 INFERRED 1352597 MRPS5P4 mitochondrial ribosomal protein S5 pseudogene 4 18 18 18 q21 54905134 54905471 + 58187067 58187404 + 60519834 60520171 + 12706105 359797 ABBA01056178;AC010928;AMYH02034850;AY135347;AY135349;NG_002900 pseudo HGNC:29779 INFERRED 1312391 MRPS6 mitochondrial ribosomal protein S6 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 20645386 20714895 + 35445823 35515334 + 34073523 34143034 + 1580863;6480464 10830953;11279123;11402041;11543634;12036297;12477932;12706105;14702039;15489334;16159877;16169070;17207965;19198609;19240061;20186120;20738937;20877624;20971364;21378990;21832049;21988832;23602568;24250222 64968 P82932 AB049942;AB051347;ABBA01057365;AI799469;AK096374;AK312084;AMYH02037752;AP000315;AP000467;AY061855;BC000547;BC004976;BC010076;BC042752;BC051302;BG720377;CH471079;DB571303;KF457228;KF457229;KF457230;KF495843;KF510541;KF511405;NM_032476 AAH00547;AAH04976;AAH10076;AAH51302;AAL35739;ADQ33169;BAB40995;BAB54937;BAG35020;EAX09795;EAX09798;NP_115865;P82932 Hs.302742 1664456;1701002;1770008;1857881;2107411;2116545;2116547;2118353;2122018;2130978;2149205;2169243;2218812 A004F10;A005K42;Cda0ae11;D21S1941;G20293;MRPS6_3115.2;RH104128;RH35989;RH78031;SHGC-87543;SHGC-87556;SLC5A3_3862;WI-11818 C21orf101;MRP-S6;RPMS6;S6mt 28S ribosomal protein S6, mitochondrial;OTTHUMP00000068540 APPROVED protein-coding ENSG00000243927 HGNC:14051 11374 611973 REVIEWED 4144445 MRPS6P1 mitochondrial ribosomal protein S6 pseudogene 1 1 1 1 p35 24985858 24986221 - 26589526 26589889 - 26263035 26263398 - 12706105 359780 ABBA01034902;AL355877;AMYH02000559;AY135350;AY135352;NG_002896 MRPS6P3 pseudo HGNC:29780 INFERRED 4144441 MRPS6P2 mitochondrial ribosomal protein S6 pseudogene 2 1 1 1 p33 49598530 49598903 + 51312141 51312514 + 50846469 50846842 + 12706105 359781 ABBA01074819;AC091610;AMYH02000994;AY135351;NG_002897 pseudo HGNC:29781 INFERRED 4144440 MRPS6P4 mitochondrial ribosomal protein S6 pseudogene 4 12 12 12 q21 89384772 89385079 + 89713076 89713383 + 89319299 89319606 + 12706105 359782 ABBA01053420;AC024909;AMYH02026904;AY135353;NG_002898 pseudo HGNC:29782 INFERRED 1319351 MRPS7 mitochondrial ribosomal protein S7 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008] 17 17 17 q25 69850098 69854805 + 73257749 73262457 + 75261668 75266376 + 6480464 10581179;11042152;11279123;11402041;11543634;12477932;12706105;15342556;15489334;16196087;17353931;18029348;20186120;20360068;20877624;21145461;21890473;21906983;21963094;22505724;22904065;22939629;23443559;23473034;23973329;24244333;24457600;24816145;8125298;8889548 51081 J3KSI8;J3KSV8;J3QKW2;J3QLS3;J3QQS1;Q9Y2R9 AB051348;ABBA01028806;AC022211;AF077042;AK222995;AK313854;AMYH02033988;BC000241;BC050641;BG034193;BP379038;BU599633;BU684092;CH471099;NM_015971;XM_005257424 AAD27775;AAH00241;ADZ15993;BAB54938;BAD96715;BAG36582;EAW89261;EAW89262;NP_057055;Q9Y2R9;XP_005257481 Hs.71787 2110579;2154188 MRPS7_2936;RH47314 MRP-S;MRP-S7;RP-S7;RPMS7;S7mt;bMRP27a 28S ribosomal protein S7, mitochondrial;30S ribosomal protein S7 homolog;bMRP-27a APPROVED protein-coding ENSG00000125445 HGNC:14499 17601 611974 REVIEWED 4144442 MRPS7P1 mitochondrial ribosomal protein S7 pseudogene 1 8 8 8 p11.22 35603054 35603758 - 36652781 36653485 - 36795263 36795967 - 12706105;22747683 359783 ABBA01023576;AC124076;AMYH02017806;AY135354;NG_002899 1706346 SHGC-80739 pseudo HGNC:29783 INFERRED 1353428 MRPS7P2 mitochondrial ribosomal protein S7 pseudogene 2 12 12 12 p13.1 21100956 21102004 + 15956050 15957098 + 15803116 15804164 + 12706105 341469 ABBA01067895;AC073651;AMYH02026104;AY135355;NG_002833 pseudo HGNC:29784 INFERRED 1343907 MRPS8 mitochondrial ribosomal protein S8 1302857 11279123 11943462 HGNC:14500 1315244 MRPS9 mitochondrial ribosomal protein S9 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. [provided by RefSeq, Jul 2008] 2 2 2 q12.1 99857577 99919512 + 105654483 105716418 + 105038025 105099960 + 1302857;6480464 11279123 11344316;12477932;12706105;14702039;15300802;15489334;16169070;17213182;17353931;20186120;20639865;20877624;21139048;21145461;21182205;21890473;21906983;21963094;22190034;22904065;22939629;23000965;23443559;23667531;24163370;25027693 64965 H7BZC4;P82933 ABBA01073867;ABBA01073868;ABBA01073869;AC010884;AC104655;AC107080;AK001451;AK130078;AMYH02004466;AV729381;BC036575;BC047784;BC057240;CH471127;DT217261;NM_182640 AAH47784;AAH57240;EAX01767;EAX01768;EAX01769;NP_872578;P82933 Hs.590900 1646224;1666986 RH36464;WI-14764 MRP-S9;RPMS9;S9mt 28S ribosomal protein S9, mitochondrial;OTTHUMP00000161376 APPROVED protein-coding ENSG00000135972 HGNC:14501 17602 611975 REVIEWED 1314201 MRRF mitochondrial ribosome recycling factor INVOLVED IN ribosome disassembly; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; cis-caffeic acid 9 9 9 q33.2 95675208 95734069 + 125026882 125085743 + 122264603 122323464 + 6480464;8554872 10773675;12477932;15164053;15489334;17207965;18782833;19716793;20186120;20379614;20877624;21832049;22939629;24816145;7566098;8889549;9838146 92399 Q96E11;X6RDS5 ABBA01043710;ABBA01043711;ABBA01043712;ABBA01043713;AK291603;AK291809;AK292790;AK298046;AK300718;AK310974;AK316266;AL162424;AMYH02021586;AMYH02021587;BC002814;BC013049;BC053604;BF982227;CH471090;NM_001173512;NM_138777;NM_199177;XM_005252302;XM_006717318;XR_242607;XR_428543 AAH13049;AAH53604;ADQ31837;BAF84292;BAF84498;BAF85479;BAH12711;BAH13333;BAH14637;EAW87520;EAW87521;EAW87522;EAW87523;EAW87524;EAW87525;EAW87526;EAW87527;EAW87528;NP_001166983;NP_620132;NP_954646;Q96E11;XP_005252359;XP_006717381 Hs.368011 1652708;1666908;1686086;1856603 RH94143;SHGC-34544;STS-D60510;WI-18446 MRFF;MTRRF;RRF OTTHUMP00000022037;OTTHUMP00000022040;OTTHUMP00000022043;ribosome-recycling factor, mitochondrial;ribosome-releasing factor, mitochondrial protein-coding ENSG00000148187 HGNC:7234 06856 604602 VALIDATED 2306585 MRRFP1 mitochondrial ribosome recycling factor pseudogene 1 INTERACTS WITH 2,4,6-trinitrotoluene (ortholog); benzo[a]pyrene (ortholog); pirinixic acid (ortholog) X X X q25 122632130 122633849 - 122249960 122251679 - 123116107 123117826 - 6480464 21139048 286423 ABBA01036309;AMYH02040396;NG_005178;Z83848 1690826 RH68626 MRRFP;RP1-57A13.2 APPROVED pseudo HGNC:35238 INFERRED 732788 MRS2 MRS2 magnesium transporter ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (inferred); INVOLVED IN magnesium ion transport (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH copper(2+) sulfate; isotretinoin; menadione 6 6 6 p22.3-p22.1 25636588 25659248 + 24403141 24425816 + 24402908 24426194 + 1580863;6480464 11401429;12477932;14574404;14702039;15342556;15489334;16341674;17207965;18384665;18976975;19242098;19270501;20877624;21906983;22190034;24250222;8619474;8889548;9110174 57380 B4DMD9;B4DSN2;H7BZ29;Q9HD23 AA828962;AA836333;ABBA01066534;AF052167;AF288288;AF293076;AF293077;AF293078;AK054587;AK291058;AK297418;AK298849;AK299825;AL359713;AMYH02013325;BC001028;BC018833;BC069009;BM680865;BM829320;BP338269;CH471087;DC305123;NM_001286264;NM_001286265;NM_001286266;NM_020662;NR_104423;XM_005249242 AAG01170;AAH01028;AAH69009;AAK38615;AAK38616;AAK38617;ADQ32050;BAF83747;BAG51394;BAG59851;BAG60974;BAG61694;EAW55445;EAW55446;EAW55447;NP_001273193;NP_001273194;NP_001273195;NP_065713;Q9HD23;XP_005249299 Hs.658612;Hs.732395 1663699;1681801;1792852;2129634;5016478;5021872;5022200;5022651;5037552 D11S2921;D8S2279;GDB:434012;L18426;PMC166143P10;RH69657;RH80641;WI-20721;sY3084 HPT;MGC78523;MRS2L MRS2 magnesium homeostasis factor homolog;MRS2-like protein;MRS2-like, magnesium homeostasis factor;OTTHUMP00000016085;OTTHUMP00000016086;magnesium transporter MRS2 homolog, mitochondrial APPROVED protein-coding ENSG00000124532 HGNC:13785 17603 VALIDATED 5508076 MRS2P1 MRS2 pseudogene 1 8 8 8 q24.13 122121032 122122576 + 125932672 125934216 + 124920430 124921974 + 100130448 ABBA01037906;AC100858;AMYH02018726;NG_022435 MRS2LP1 APPROVED pseudo HGNC:20590 INFERRED 2299195 MRS2P2 MRS2 pseudogene 2 12 12 12 q21.1 71905361 71908052 - 72242072 72244763 - 71848292 71850983 - 729633 ABBA01026504;AC089984;AMYH02026742;AY333753;NR_024072 Hs.716256 5015404;5020494;5021228;5022578;5037552 D1S1423;D8S2279;GDB:312794;L17705;L18062 APPROVED pseudo HGNC:33942 VALIDATED 1349842 MRSD mental retardation-skeletal dysplasia ASSOCIATED WITH Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (inferred) 7240710 4364 HGNC:7236 309620 1350863 MRT2A mental retardation, non-syndromic, autosomal recessive, 2A 10932263 266597 HGNC:13366 1323307 MRTO4 mRNA turnover 4 homolog (S. cerevisiae) This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly. [provided by RefSeq, Jul 2008] 1 1 1 p36.13 17905060 17913606 + 19578075 19586622 + 19251581 19260128 + 6480464 11790298;12429849;12477932;14702039;15342556;15489334;16710414;17082780;18029348;18212063;18239623;19738201;19797078;20083226;20360068;20379614;21044950;21048991;21139048;21145461;21906983;21907836;21963094;22586326;22939629;22952844;24457600;24778252;24816145;25027693 51154 Q9UKD2 ABBA01059755;AF173378;AK024227;AK027569;AK295328;AL035413;AMYH02000420;AY303790;BC003013;BC006504;BP312953;BQ670859;CH471134;NM_016183;XM_006710675 AAD52608;AAH03013;AAH06504;AAP68821;BAB55205;BAG51275;BAG58304;EAW94873;EAW94874;EAW94875;NP_057267;Q9UKD2;XP_006710738 Hs.463797 2123291;2191747;5016596;5022651;5037552;5112153 D11S2921;D8S2279;GDB:631802;MARC_6491-6492:996689696:1;RH101990;SHGC-74311 C1orf33;MRT4;dJ657E11.4 60S acidic ribosomal protein PO;MRT4, mRNA turnover 4, homolog;OTTHUMP00000002580;chromosome 1 open reading frame 33;mRNA turnover protein 4 homolog;ribosomal protein, large, P0-like APPROVED protein-coding ENSG00000053372 HGNC:18477 12725 REVIEWED 1320377 MRVI1 murine retrovirus integration site 1 homolog This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent kinase-1 (PKG1) that can function as a regulator of IP3-induced calcium release. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, and alternative translation start sites, including a non-AUG (CUG) start site, are used. [provided by RefSeq, May 2011] 11 11 11 p15 10716179 10837073 - 10594638 10715535 - 10573091 10693988 - 1580863;6480464;8554872 10321731;10724174;11309393;12477932;12480535;14702039;14729908;1538749;16166082;16344560;16990611;17342744;18029348;20080650;20379614;20526338;20567233;20969748;21244222;21865585;2271613;23793025 10335 E9PJ61;E9PNK7;E9PRG4;E9PRH0;H0YCL0;H0YDM7;H0YI08;Q9Y6F6 ABBA01061155;ABBA01061156;ABBA01061157;AC009532;AF081249;AF081250;AK002039;AK127209;AK296336;AK300358;AK301296;AK304702;AL044056;AL117524;AL603309;AL832178;AMYH02024328;BC117127;CH471064;DA127310;DA163499;DA185715;DA797538;DB132030;DB167290;DB445355;DC422754;NM_001098579;NM_001100163;NM_001100167;NM_001206880;NM_001206881;NM_130385 AAD25922;AAD25923;AAI17128;ADR83074;BAH12320;BAH13268;BAH13451;BAH14239;EAW68559;EAW68560;EAW68561;EAW68562;EAW68563;NP_001092049;NP_001093633;NP_001093637;NP_001193809;NP_001193810;NP_569056;Q9Y6F6 Hs.501898;Hs.680194 1335169;1653587;1658340;1670411;1697738;1761197;2121565;7185150 D11S1128;D11S1329;D11S4398;G17584;RH102391;SHGC-145212;WI-21997 IRAG;JAW1L IP3R-associated cGMP kinase substrate;JAW1-related protein MRVI1;OTTHUMP00000230939;OTTHUMP00000230940;OTTHUMP00000230943;OTTHUMP00000237927;OTTHUMP00000237928;inositol 1,4,5-triphosphate receptor-associated cGMP kinase substrate;inositol 1,4,5-triphosphate-associated cGMP kinase substrate;inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate APPROVED protein-coding ENSG00000072952 HGNC:7237 05242 604673 REVIEWED 5552950 MRVI1-AS1 MRVI1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 11 11 11 p15.4 10684322 10743020 + 10562783 10621479 + 10541236 10599932 + 8554872 12477932;16344560 100129827 Q8N6V7 ABBA01061156;ABBA01061157;AC009532;AC021914;AI075905;AMYH02024327;AMYH02024328;BC028123;BI520309;BU569149;BU570065;CH471064;DB071465;DB454301;HG503526;HG503527;NR_034093;NR_034094;NR_046374;NR_046375 AAH28123;EAW68564 Hs.246769 1339052;1658332;1658340;1697738;1724651;1850676;2121565;2141353;5113647;7183825 D11S1128;D11S4465;D11S4637;RH102391;RH121326;RH12873;RH92575;STS-AA028016;WI-21997 RP11-58H20.3 APPROVED ncrna ENSG00000177112 HGNC:43434 VALIDATED 1349118 MRX1 mental retardation, X-linked 1 (non-dysmorphic) ASSOCIATED WITH Mental Retardation, X-Linked 1 (inferred) 7240710 1605216;3177466 4365 HGNC:7238 309530 1346923 MRX10 mental retardation, X-linked 10 1605216 4374 HGNC:7239 1351389 MRX11 mental retardation, X-linked 11 1605216 4375 HGNC:7240 1349536 MRX12 mental retardation, X-linked 12 1605216 4376 HGNC:7241 1344586 MRX13 mental retardation, X-linked 13 1605216 4377 HGNC:7242 1342752 MRX14 mental retardation, X-linked 14 ASSOCIATED WITH Mental retardation, X-linked 14 (inferred) 7240710 8026106 4378 HGNC:7243 300062 1346270 MRX15 mental retardation, X-linked 15 8826458 4379 HGNC:7244 1348880 MRX16 mental retardation, X-linked 16 ASSOCIATED WITH Angelman Syndrome (inferred); AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (inferred); Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (inferred) 7240710 9222958 4380 HGNC:7245 105830;300055;300260;300496;300673;312750 1351501 MRX17 mental retardation, X-linked 17 ASSOCIATED WITH Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency (inferred); Mental Retardation, X-Linked, Syndromic 10 (inferred) 7240710 7943039 4381 HGNC:7246 300220;300438 1352610 MRX18 mental retardation, X-linked 18 7943039 4382 HGNC:7247 1343365 MRX19 mental retardation, X-linked 19 ASSOCIATED WITH Coffin-Lowry Syndrome (inferred); Mental Retardation, X-Linked 19 (inferred) 7240710 7943043 4383 HGNC:7248 300844;303600 1347738 MRX2 mental retardation, X-linked 2 (non-dysmorphic) ASSOCIATED WITH Fragile X Syndrome (inferred); Mental Retardation, X-Linked 2 (inferred) 7240710 1605216;3177465 4367 1702166;7184881 DXS85 HGNC:7249 300428;309548 1348022 MRX20 mental retardation, X-linked 20 ASSOCIATED WITH Mental Retardation, X-Linked 20 (inferred) 7240710 7573127 4384 HGNC:7250 300047 1352032 MRX21 mental retardation, X-linked 21 ASSOCIATED WITH MENTAL RETARDATION, X-LINKED 21 (inferred) 7240710 8230164 4385 HGNC:7251 300143 1353071 MRX22 mental retardation, X-linked 22 4386 HGNC:7252 1351396 MRX23 mental retardation, X-linked 23 ASSOCIATED WITH Mental Retardation, X-Linked 23 (inferred) 7240710 8852668 4387 1338389;1769434;7187628 DXS1220;DXS424 HGNC:7253 300046 1346341 MRX24 mental retardation, X-linked 24 7726242 4388 HGNC:7254 1344369 MRX25 mental retardation, X-linked 25 1362558 4389 HGNC:7255 1351625 MRX26 mental retardation, X-linked 26 8826459 4390 HGNC:7256 1349721 MRX27 mental retardation, X-linked 27 8826461 4391 HGNC:7257 1344038 MRX28 mental retardation, X-linked 28 8826462 4392 HGNC:7258 1348148 MRX29 mental retardation, X-linked 29 ASSOCIATED WITH Epileptic Encephalopathy, Early Infantile, 1 (inferred); Lissencephaly, X-Linked, 2 (inferred); Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (inferred) 7240710 9001795 4393 HGNC:7259 300004;300215;300419;308350;309510 1345127 MRX3 mental retardation, X-linked 3 ASSOCIATED WITH Mental Retardation, X-Linked 3 (inferred) 7240710 4368 HGNC:7260 309541 1342773 MRX31 mental retardation, X-linked 31 ASSOCIATED WITH Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency (inferred); Mental Retardation, X-Linked, Syndromic 10 (inferred) 7240710 8826460 4395 HGNC:7262 300220;300438 1346336 MRX32 mental retardation, X-linked 32 ASSOCIATED WITH Epileptic Encephalopathy, Early Infantile, 1 (inferred); Lissencephaly, X-Linked, 2 (inferred); Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (inferred) 7240710 8826457 4396 HGNC:7263 300004;300215;300419;308350;309510 1349429 MRX33 mental retardation, X-linked 33 8826462 4398 HGNC:7264 1344151 MRX35 mental retardation, X-linked 35 8825049 4400 HGNC:7266 1348398 MRX36 mental retardation, X-linked 36 ASSOCIATED WITH Epileptic Encephalopathy, Early Infantile, 1 (inferred); Lissencephaly, X-Linked, 2 (inferred); Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (inferred) 7240710 4401 HGNC:7267 300004;300215;300419;308350;309510 1350718 MRX37 mental retardation, X-linked 37 8826456 4402 HGNC:7268 1343421 MRX38 mental retardation, X-linked 38 8826457 4403 HGNC:7269 1347024 MRX39 mental retardation, X-linked 39 4404 HGNC:7270 1345153 MRX4 mental retardation, X-linked 4 1605216;3177465 4366 HGNC:7271 1349391 MRX40 mental retardation, X-linked 40 7581391 4405 HGNC:7272 1342788 MRX42 mental retardation, X-linked 42 ASSOCIATED WITH Mental Retardation, X-Linked 42 (inferred) 7240710 4406 HGNC:7274 300372 1346244 MRX43 mental retardation, X-linked 43 ASSOCIATED WITH Epileptic Encephalopathy, Early Infantile, 1 (inferred); Lissencephaly, X-Linked, 2 (inferred); Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (inferred) 7240710 10398246 4407 HGNC:7275 300004;300215;300419;308350;309510 1350766 MRX44 mental retardation, X-linked 44 ASSOCIATED WITH Mental Retardation, X-Linked 9 (inferred) 7240710 10398246 4408 HGNC:7276 309549 1354129 MRX45 mental retardation, X-linked 45 ASSOCIATED WITH Mental Retardation, X-Linked 45 (inferred) 7240710 10398246 4409 HGNC:7277 300498 1347536 MRX47 mental retardation, X-linked 47 ASSOCIATED WITH Mental Retardation, X-Linked 30 (inferred) 7240710 9332663 4411 HGNC:7279 300558 1344090 MRX49 mental retardation, X-linked 49 ASSOCIATED WITH MENTAL RETARDATION, X-LINKED 49 (inferred) 7240710 9415477 4412 1334909;1339235 DXS7107;DXS8051 HGNC:7281 300114 1352994 MRX5 mental retardation, X-linked 5 1605216;1673297 4369 HGNC:7282 1351965 MRX50 mental retardation, X-linked 50 ASSOCIATED WITH Mental Retardation, X-Linked 50 (inferred) 7240710 9415477 4413 HGNC:7283 300115 1348467 MRX51 mental retardation, X-linked 51 10398244 4414 HGNC:7284 1346622 MRX52 mental retardation, X-linked 52 ASSOCIATED WITH Mental Retardation, X-Linked 52 (inferred) 7240710 10398246 4415 HGNC:7285 300504 1343090 MRX53 mental retardation, X-linked 53 ASSOCIATED WITH Mental Retardation, X-Linked 53 (inferred) 7240710 4416 1338447;1339061 DXS1072;DXS8081 HGNC:7286 300324 1353684 MRX54 mental retardation, X-linked 54 ASSOCIATED WITH Epileptic Encephalopathy, Early Infantile, 1 (inferred); Lissencephaly, X-Linked, 2 (inferred); Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (inferred) 7240710 10398243 4417 HGNC:7287 300004;300215;300419;308350;309510 1350356 MRX55 mental retardation, X-linked 55 ASSOCIATED WITH Renpenning syndrome 1 (inferred) 7240710 9599645 4418 HGNC:7288 309500 1348299 MRX56 mental retardation, X-linked 56 4419 HGNC:7289 1344831 MRX57 mental retardation, X-linked 57 4420 HGNC:7290 1348445 MRX58 mental retardation, X-linked 58 ASSOCIATED WITH Mental Retardation, X-Linked 58 (inferred) 7240710 10449641 4421 HGNC:7291 300210 1348336 MRX59 mental retardation, X-linked 59 ASSOCIATED WITH Mental retardation, X-linked, syndromic 5 (inferred) 7240710 10398241 4422 HGNC:7292 304340 1346420 MRX6 mental retardation, X-linked 6 (Okinawa type) 1605216 4370 HGNC:7293 1346876 MRX60 mental retardation, X-linked 60 ASSOCIATED WITH Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (inferred) 7240710 4423 HGNC:7294 300486 1344401 MRX61 mental retardation, X-linked 61 4424 HGNC:7295 1352478 MRX62 mental retardation, X-linked 62 4425 HGNC:7296 1349894 MRX63 mental retardation, X-linked 63 ASSOCIATED WITH Mental Retardation, X-Linked 63 (inferred) 7240710 4426 HGNC:7297 300387 1351278 MRX64 mental retardation, X-linked 64 9222958 4427 HGNC:7298 1343065 MRX65 mental retardation, X-linked 65 10398247 4428 HGNC:7299 1344436 MRX66 mental retardation, X-linked 66 23700 HGNC:7300 1353838 MRX67 mental retardation, X-linked 67 23699 HGNC:7301 1349954 MRX68 mental retardation, X-linked 68 23698 HGNC:7302 1346898 MRX69 mental retardation, X-linked 69 23697 HGNC:7303 1343370 MRX7 mental retardation, X-linked 7 1605216 4371 HGNC:7304 1349994 MRX70 mental retardation, X-linked 70 23696 HGNC:7305 1344803 MRX72 mental retardation, X-linked 72 ASSOCIATED WITH Mental Retardation, X-Linked 72 (inferred) 7240710 11050621 23695 1340490 DXS1073 HGNC:7306 300271 1348254 MRX73 mental retardation, X-linked 73 ASSOCIATED WITH Mental Retardation, X-Linked 73 (inferred) 7240710 11477616 23694 1340456;1702866 DXS365;DXS8019 HGNC:7307 300355 1352081 MRX74 mental retardation, X-linked 74 23693 HGNC:7308 1344865 MRX75 mental retardation, X-linked 75 10946355 89760 HGNC:7309 1346843 MRX76 mental retardation, X-linked 76 57193 HGNC:7310 1348650 MRX77 mental retardation, X-linked 77 ASSOCIATED WITH Mental Retardation, X-Linked 77 (inferred) 7240710 12949971 93991 HGNC:15824 300454 1353449 MRX78 mental retardation, X-linked 78 ASSOCIATED WITH Mental Retardation, X-Linked 78 (inferred) 7240710 170530 HGNC:17942 300551 1346839 MRX79 mental retardation, X-linked 79 ASSOCIATED WITH Angelman Syndrome (inferred); AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (inferred); Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (inferred) 7240710 12325019 353505 HGNC:17571 105830;300055;300260;300496;300673;312750 1343830 MRX8 mental retardation, X-linked 8 1605216 4372 HGNC:7311 1351127 MRX80 mental retardation, X-linked 80 12949969 378483 HGNC:18872 1346112 MRX81 mental retardation, X-linked 81 ASSOCIATED WITH Mental Retardation, X-Linked 81 (inferred) 7240710 12673650 266678 1335909;7183753 DXS1039;DXS1216 HGNC:19301 300433 1342815 MRX82 mental retardation, X-linked 82 ASSOCIATED WITH Mental Retardation, X-Linked 82 (inferred) 7240710 15526294 378484 HGNC:21626 300518 1352445 MRX84 mental retardation, X-linked 84 ASSOCIATED WITH Mental Retardation, X-Linked 84 (inferred) 7240710 15326629 378882 HGNC:20228 300505 1344112 MRX86 mental retardation, X-linked 86 HGNC:25212 1351748 MRX9 mental retardation, X-linked 9 ASSOCIATED WITH Mental Retardation, X-Linked 9 (inferred) 7240710 1605216 4373 HGNC:7312 309549 1343284 MRXS10 mental retardation, X-linked, syndromic 10 ASSOCIATED WITH Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency (inferred); Mental Retardation, X-Linked, Syndromic 10 (inferred) 7240710 50828 HGNC:18223 300220;300438 1352701 MRXS11 mental retardation, X-linked, syndromic 11 ASSOCIATED WITH Orofaciodigital syndrome, Shashi type (inferred) 7240710 10677307 50644 1341161 DXS1047 HGNC:13865 300238 1346143 MRXS7 mental retardation, X-linked, syndromic 7 ASSOCIATED WITH Mental retardation X-linked syndromic 7 (inferred) 7240710 4429 1339972;7187954 DXS1106 HGNC:7313 300218 1343315 MS multiple sclerosis ASSOCIATED WITH Multiple Sclerosis (inferred) 7240710 1383661 4397 HGNC:7314 126200 1323750 MS4A1 membrane-spanning 4-domains, subfamily A, member 1 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008] 11 11 11 q12 57587550 57602493 + 60223251 60238225 + 60455809 60470752 + 1580863;2316995;2316994;6480464;7240710;8699517;8554872 19911856;7538648 10808179;11169444;12075439;12144126;12218101;12393541;12447967;12477932;12603599;12704213;12835728;12920111;14976189;1535625;15480506;15489334;15638430;15927668;16095505;16285718;16923555;16923582;17000895;17268523;17299094;17336267;17362749;17712791;18006839;18029348;18095154;18324964;18346788;18426802;18652276;19000453;19054557;19111631;19136769;19153665;19207312;19211644;19246561;19276251;19513512;19513562;19641607;20038800;20191119;20237496;20350657;20354182;20458337;20641064;20660329;20674973;20815894;21048031;21092589;21258801;21348573;21444918;21630262;21839272;21961844;22130422;22167754;22171710;22315496;22490442;22514692;22517865;22664043;22665052;22685558;22692757;22758374;22843692;22914441;23031227;23100517;23182705;23428174;23659384;24145652;24244415;24245949;2448768;2456210;24583282;2466898;2466899;24928997;25015289;3117132;3260267;3871452;7545683;7678037;7684739;7920628;8125298;8325649;8701937;8816400;9169438;9814732;9933087 931 B4DT24;E9PKH8;E9PPL6;P11836 ABBA01021511;AK225630;AK292168;AK300025;AK310118;AMYH02024871;AP001034;AP003127;AW504475;BC002807;CD691924;CH471076;JA362570;L23415;L23418;L23419;M27394;M27395;NG_023388;NM_021950;NM_152866;X07203;X07204;X12530 AAA35581;AAA88911;AAH02807;ABM84433;ABM87498;BAF84857;BAG61836;CAA30179;CAA30180;CAA31046;CCA94567;EAW73889;EAW73890;EAW73891;EAW73892;NP_068769;NP_690605;P11836 Hs.712553 1298263;1298308;1667225;1675094;1679269;1687508;1737817;1742483;1754665;1795012;2118813;2177923;7186403 D11S3434;D11S4377;D17S934;D17S946;D17S949;GDB:197528;PMC87290P2;RH11466;RH93595;RH93627;SHGC-133022;SHGC-60212;STS-L23419 B1;Bp35;CD20;CVID5;LEU-16;MGC3969;MS4A2;S7 B-lymphocyte antigen CD20;B-lymphocyte cell-surface antigen B1;B-lymphocyte surface antigen B1;CD20 antigen;CD20 receptor;OTTHUMP00000236377;OTTHUMP00000236378;leukocyte surface antigen Leu-16 APPROVED protein-coding ENSG00000156738 HGNC:7315 00204 112210;613495 REVIEWED 1316696 MS4A10 membrane-spanning 4-domains, subfamily A, member 10 Most MS4A genes, including MS4A10, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004] 11 11 11 q12.2 57917033 57932993 + 60552821 60568778 + 60785348 60801305 + 6480464;8554872 11245982;11401424;11486273;12477932 341116 Q96PG2 ABBA01021514;AF354934;AF354935;AK122633;AMYH02024875;AP004243;BC137259;BC137263;CH471076;NM_206893 AAI37260;AAI37264;AAL07361;AAL07362;BAC85498;EAW73900;NP_996776;Q96PG2 Hs.591956 5015404;5016478;5020414;5020740;5022578;5023353;5024413;5037552 D1S1423;D8S2279;D8S467;GDB:434012;L17688;L17705;L17809;L17877 CD20L7;FLJ16054;MS4A9 CD20 antigen-like 7;OTTHUMP00000236476;membrane-spanning 4-domains subfamily A member 10 APPROVED protein-coding ENSG00000172689 HGNC:13368 16330 608403 VALIDATED 1316189 MS4A12 membrane-spanning 4-domains, subfamily A, member 12 The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 11 11 11 q12 57624519 57639170 + 60260251 60274903 + 60492713 60507430 + 1580863;6480464;8554872 11401424;11486273;12477932;14702039;15342556;15489334;17207965;18451174;19781065 54860 E9PIX5;E9PNI3;Q9NXJ0 ABBA01021511;AK000224;AMYH02024872;AP001034;BC029793;BP262076;BP262976;CH471076;NM_001164470;NM_017716;XM_006718591 AAH29793;ADQ31896;BAA91020;EAW73893;NP_001157942;NP_060186;Q9NXJ0;XP_006718654 Hs.272789 2219176 MS4A12_2955 Ms4a10 OTTHUMP00000229465;OTTHUMP00000229466;membrane-spanning 4-domains subfamily A member 12 APPROVED protein-coding ENSG00000071203 HGNC:13370 08410 606550 REVIEWED 1606059 MS4A13 membrane-spanning 4-domains, subfamily A, member 13 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) 11 11 11 q12.2 57647152 57674463 + 60282886 60310194 + 60515413 60542721 + 8554872 12477932;23934736 503497 E9PPG1;Q5J8X5 AA431602;ABBA01021511;AMYH02024872;AMYH02024873;AP001034;AY324188;AY324189;AY324190;BC140799;BC171746;NM_001012417;NM_001100909;NM_001278320 AAI40800;AAI71746;AAQ94112;AAQ94113;AAQ94114;NP_001012417;NP_001094379;NP_001265249;Q5J8X5 Hs.523704 1731537 D11S1253 OTTHUMP00000236381;OTTHUMP00000236382;OTTHUMP00000236383;membrane-spanning 4-domains subfamily A member 13;testis-expressed transmembrane protein 4;testis-expressed transmembrane-4 protein protein-coding ENSG00000204979 HGNC:16674 17604 VALIDATED 1606761 MS4A14 membrane-spanning 4-domains, subfamily A, member 14 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH amiodarone; ammonium chloride (ortholog); cocaine (ortholog) 11 11 11 q12.2 57527870 57549614 + 60163487 60185229 + 60396014 60417756 + 6480464;8554872 12477932;14702039;16344560;20237496 84689 Q96JA4 ABBA01021510;AF367473;AK057418;AK314674;AL137391;AMYH02024871;AP003127;AY094610;AY094611;AY584610;BC035361;BC064627;BC107431;BC121039;BC121040;CH471076;DB082055;DB450359;DB727789;NM_001079692;NM_001261827;NM_001261828;NM_032597;NR_049731;NR_049732;NR_049733;NR_049734 AAI07432;AAI60053;AAK53409;AAM48587;AAM48588;AAV91959;CAB70719;EAW73884;EAW73885;EAW73886;NP_001073160;NP_001248756;NP_001248757;NP_115986;Q96JA4 Hs.709736 1647963;1680986;1732241;1855378;2116194;2185997 A009H24;D11S1812;RH17567;RH46578;RH46991;SGC34191 MGC104289;MGC49828;MS4A16;NYD-SP21 MS4A13 protein;OTTHUMP00000236361;OTTHUMP00000236362;OTTHUMP00000236363;OTTHUMP00000236364;OTTHUMP00000236365;OTTHUMP00000236366;OTTHUMP00000236367;OTTHUMP00000236369;membrane-spanning 4-domains subfamily A member 14;membrane-spanning 4-domains, subfamily A, member 16;testes development-related NYD-SP21;testis development protein NYD-SP21 protein-coding ENSG00000166928 HGNC:30706 14863 VALIDATED 1603162 MS4A15 membrane-spanning 4-domains, subfamily A, member 15 FOUND IN integral component of membrane (inferred); INTERACTS WITH dibutyl phthalate (ortholog); pirinixic acid (ortholog); thimerosal (ortholog) 11 11 11 q12.2 57888546 57908417 + 60524340 60544204 + 60756867 60776733 + 6480464 11181995;12477932;14702039;15489334;16554811;18976975 219995 B4DTI9;E7ET34;Q8N5U1 ABBA01021514;AK091846;AK300233;AMYH02024875;AP004243;AY584608;AY584609;BC031610;BI818815;CH471076;CR747020;DC359370;NM_001098835;NM_001278242;NM_152717;NR_103481;XM_006718458;XM_006718459 AAH31610;AAV91957;AAV91958;ADZ16103;BAG62001;EAW73898;EAW73899;NP_001092305;NP_001265171;NP_689930;Q8N5U1;XP_006718521;XP_006718522 Hs.207465 FLJ34527;MGC35295 OTTHUMP00000236472;OTTHUMP00000236473;OTTHUMP00000236475;membrane-spanning 4-domains subfamily A member 15 protein-coding ENSG00000166961 HGNC:28573 17532 VALIDATED 1350443 MS4A16 membrane-spanning 4-domains, subfamily A, member 16 FOUND IN integral component of membrane (inferred) 414354 E9PIL9;E9PPA2;E9PRA6;E9PRG6;F6X344;H0YD53 HGNC:30706 3457221 MS4A18 membrane-spanning 4-domains, subfamily A, member 18 FOUND IN integral component of membrane (inferred) 11 11 11 q12.2 57860995 57875673 + 60501077 60506416 + 60732521 60743994 + 728588 H0YCH9;Q3C1V0 AB231761;ABBA01021513;ABBA01021514;AMYH02024875;AP004243;KF455396;XM_006709948;XM_006718756;XM_006726533 BAE46897;Q3C1V0;XP_006710011;XP_006718819;XP_006726596 Hs.739039 OTTHUMP00000236471;membrane-spanning 4-domains subfamily A member 18 protein-coding HGNC:37636 MODEL 1350065 MS4A2 membrane-spanning 4-domains, subfamily A, member 2 The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012] 11 11 11 q12-q13 57220517 57230320 + 59855734 59865940 + 60088261 60098467 + 1599903;1580863;5131151;5131149;5131092;5131116;5131152;5131102;6480464;6907045;7240710;8554872 15480314;17430357;18269668;19218813;19862939;21320344;8817330 11134951;11142503;11150000;11245344;11368631;11447385;11702205;11758232;12047428;12082592;12217393;12393595;12422339;12477932;12697656;12753743;12903039;12919239;1386024;14687477;15087090;15316148;1533242;1535625;15453830;15479187;15489334;15528387;15953854;16002993;16344560;16750991;16839401;16839402;16867043;17014622;17088130;17121586;17178032;17686114;17703412;18379861;18534082;18579528;18691306;18931892;18949059;18974840;19028820;19131662;19247692;19258923;19264973;19288130;19356729;19416867;19479237;19514647;19559392;19796196;19824886;19913121;19948975;20028371;20085599;20358027;20395963;20503287;20536507;20554927;20628086;20703737;20716621;21061265;2146219;21832049;22150093;22845063;23643722;24118172;2448768;7528770;7612892;7920628;8071371;8094113;8188278;8805698;8842731;8968765;8995445;9169438;9341761;9379041 2206 E9PLJ1;Q01362 AB042033;AB080913;ABBA01021510;AK304487;AK310142;AMYH02024870;AP001181;BC074800;BC074843;CH471076;D10583;DA972757;GD138492;JF411082;M89796;NG_016014;NM_000139;NM_001256916;X66187;XM_005273846 AAA60269;AAH74800;AAH74843;AEA50999;BAA01440;BAB17032;BAC66486;BAG65297;CAA46955;EAW73865;NP_000130;NP_001243845;Q01362;XP_005273903 Hs.386748 1650904;1742321;1796358;1850954;5015828;5022578;5037552 D1S1423;D8S2279;GDB:187457;GDB:196337;IGERBE6;MS4A2_939;SGC35231 APY;FCER1B;IGEL;IGER;MS4A1 ATOPY;FCERI;Fc fragment of IgE, high affinity I, receptor for;Fc fragment of IgE, high affinity I, receptor for, beta polypeptide;High affinity immunoglobulin epsilon receptor beta-subunit (FcERI) (IgE Fc receptor, beta-subunit) (Fc epsilon receptor I beta-chain);IGHER;OTTHUMP00000235529;beta polypeptide;high affinity IgE receptor beta subunit;high affinity immunoglobulin epsilon receptor subunit beta;igE Fc receptor subunit beta;immunoglobulin E receptor, high affinity, beta polypeptide;membrane-spanning 4-domains subfamily A member 2;membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for, beta polypeptide) APPROVED protein-coding ENSG00000149534 HGNC:7316 00915 147050;147138 REVIEWED 1321597 MS4A3 membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 57188482 57202973 + 59824101 59838588 + 60056628 60071115 + 1580863;6480464;8554872 11401424;11486273;11781350;12477932;15489334;15671017;15830103;17207965;19818099;20237496;20677014;20800603;22367966;7524084 932 E9PRW8;Q96HJ5 ABBA01021510;AL601630;AMYH02024870;AP000790;AY095480;AY258289;BC008487;BE564041;BF210971;BG495577;CH471076;L35848;NM_001031666;NM_001031809;NM_006138 AAA62319;AAH08487;AAM23312;AAP14648;ADQ31573;EAW73863;EAW73864;NP_001026836;NP_001026979;NP_006129;Q96HJ5 Hs.99960 1744207;1796360 GDB:437690;MS4A3_941 CD20L;HTM4 CD20 antigen homolog;CD20 antigen-like protein;IgE receptor beta chain;IgE receptor beta subunit;OTTHUMP00000235850;OTTHUMP00000235851;OTTHUMP00000235853;hematopoietic cell 4 transmembrane protein;hematopoietic-specific transmembrane protein 4;membrane-spanning 4-domains subfamily A member 3 APPROVED protein-coding ENSG00000149516 HGNC:7317 09403 606498 REVIEWED 1315944 MS4A4A membrane-spanning 4-domains, subfamily A, member 4A This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 11 q12 57412537 57440831 + 60048014 60076445 + 60280541 60308972 + 1580863;6480464;8554872 11245982;11401424;11486273;12477932;15489334;16303743;21460841;23573206 51338 F8W866;H0YE49;Q4JF27;Q96JQ5 AB013102;AB022821;ABBA01021510;AF068288;AF237912;AF350500;AF354928;AK075081;AK292089;AK314033;AMYH02024871;AP003127;AP003970;BC020648;BG538851;CB046393;CH471076;NM_001243266;NM_024021;NM_148975 AAF65507;AAH20648;AAK37594;AAL08486;AAL56220;ABM82321;ABM85499;BAB18738;BAB61018;BAC11389;BAF84778;BAG36743;EAW73873;EAW73874;EAW73875;NP_001230195;NP_076926;NP_683876;Q96JQ5 Hs.325960 1665941;2109527 MS4A4A_9706;WI-11578 4SPAN1;CD20-L1;CD20L1;HDCME31P;MGC22311;MS4A4;MS4A7 CD20 antigen-like 1;Fc epsilon receptor beta subunit homolog;OTTHUMP00000206999;OTTHUMP00000235783;four-span transmembrane protein 1;membrane-spanning 4-domains subfamily A member 4A;membrane-spanning 4-domains, subfamily A, member 4 APPROVED protein-coding ENSG00000110079 HGNC:13371 08408 606547 REVIEWED 1344858 MS4A4B membrane-spanning 4-domains, subfamily A, member 4B 11401424 83665 AF237913 HGNC:13372 1348230 MS4A4C membrane-spanning 4-domains, subfamily A, member 4C 11245982;11401424 64228 AF237914 HGNC:13381 1344823 MS4A4D membrane-spanning 4-domains, subfamily A, member 4D 11401424 83664 AF237915 HGNC:13373 1348228 MS4A4E membrane-spanning 4-domains, subfamily A, member 4E Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004] 11 11 11 q12.2 57333103 57374946 - 59968726 60010575 - 60201253 60243102 - 1580863;6480464;8554872 11486273;20379614;21460840;23118302 643680 B4DT89;E9PKS5;H0YEM0;Q96PG1 AB231725;AB231726;AB231727;AB231728;AB231729;AB231730;AB231731;ABBA01021510;AF354936;AK300102;AMYH02024871;AP003970;XM_005274415;XM_005275707;XM_005276402 AAL07363;BAE46883;BAE46884;BAE46885;BAE46886;BAG61901;Q96PG1;XP_005274472;XP_005275764;XP_005276459 Hs.559934 1340920 D11S4191 OTTHUMP00000235781;OTTHUMP00000235782 APPROVED protein-coding HGNC:14284 608401 MODEL 1350963 MS4A5 membrane-spanning 4-domains, subfamily A, member 5 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. [provided by RefSeq, Jul 2008] 11 11 11 q12 57561382 57579583 + 60197062 60215265 + 60429589 60447792 + 1580863;6480464 11162526;11245982;11401424;11486273;12477932;15489334;17110338;20237496 64232 E9PKT5;H0YD29;H0YDK1;Q9H3V2 AB013103;ABBA01021510;AF237907;AF321127;AMYH02024871;AP003127;BC029884;CH471076;CS072269;HC007172;HC044577;NM_023945 AAH29884;AAK01641;AAK37416;BAB18739;CAI93407;CBH19391;CBH30618;EAW73887;EAW73888;NP_076434;Q9H3V2 Hs.178066 CD20-L2;CD20L2;MGC34184;TETM4 CD20 antigen-like 2;OTTHUMP00000236370;OTTHUMP00000236373;membrane-spanning 4-domains subfamily A member 5;testis-expressed transmembrane protein 4;testis-expressed transmembrane-4 protein APPROVED protein-coding ENSG00000166930 HGNC:13374 07578 606499 REVIEWED 1323386 MS4A6A membrane-spanning 4-domains, subfamily A, member 6A This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011] 11 11 11 q12.1 57303467 57315061 - 59939080 59952139 - 60171607 60184666 - 1580863;6480464;8554872 11245982;11401424;11486273;12477932;15489334;16344560;20237496;20453000;21460840;22382309;23383108;23969696;24064185;24162737 64231 B4DUN6;E7EMT7;E9PJ78;E9PL03;E9PMN8;E9PNG6;E9PSA9;G5EA21;H0YEM2;Q9H2W1 AB013104;ABBA01021510;AF142409;AF172819;AF212240;AF237908;AF253977;AF261136;AF286866;AF350502;AF350503;AF354930;AK026454;AK291870;AK300725;AK301387;AMYH02024871;AP003970;AV720078;BC022854;BC108728;CD684503;CH471076;DA917243;DA979138;DC295707;NG_033978;NM_001247999;NM_022349;NM_152851;NM_152852;XM_005274177;XM_005274178;XM_006718658;XM_006718659;XM_006718660;XM_006718661;XM_006718662;XM_006718663 AAG27920;AAG41780;AAG44626;AAG44672;AAH22854;AAI08729;AAK37417;AAK37994;AAL07357;AAL56222;AAL56223;AAQ13613;ABM84437;ABM87483;BAB18740;BAF84559;BAG62398;BAG62926;EAW73866;EAW73867;EAW73868;EAW73869;EAW73870;EAW73871;EAW73872;NP_001234928;NP_071744;NP_690590;NP_690591;Q9H2W1;XP_005274234;XP_005274235;XP_006718721;XP_006718722;XP_006718723;XP_006718724;XP_006718725;XP_006718726 Hs.523702;Hs.744932 1668818;1695944;1768189;2150700;2151005;5019164 G30259;RH103082;SHGC-78903;STS-AA031623;STS-H59599;WI-14132 4SPAN3;4SPAN3.2;CD20L3;CDA01;MGC131944;MGC22650;MS4A6;MST090;MSTP090 CD20 antigen-like 3;CD20-like precusor;HAIRB-iso;MS4A6A-polymorph;OTTHUMP00000235530;OTTHUMP00000235531;OTTHUMP00000235532;OTTHUMP00000235770;OTTHUMP00000235771;OTTHUMP00000235772;four-span transmembrane protein 3;four-span transmembrane protein 3.1;four-span transmembrane protein 3.2;membrane-spanning 4-domains subfamily A member 6A;membrane-spanning 4-domains, subfamily A, member 6A, isoform 2 APPROVED protein-coding ENSG00000110077 HGNC:13375 09414 606548 REVIEWED 1347097 MS4A6B membrane-spanning 4-domains, subfamily A, member 6B 11401424 83663 AF237909 HGNC:13376 1350589 MS4A6C membrane-spanning 4-domains, subfamily A, member 6C 11401424 83662 AF237910 HGNC:13377 1352118 MS4A6D membrane-spanning 4-domains, subfamily A, member 6D 11245982;11401424 64234 AF237911 HGNC:13369 1345095 MS4A6E membrane-spanning 4-domains, subfamily A, member 6E This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008] 11 11 11 q12.2 57466739 57472825 + 60102355 60108441 + 60334882 60340968 + 1580863;6480464 11486273;12477932;15489334;17207965;21460841;23383108 245802 H0YD45;H0YEW2;Q96DS6 ABBA01021510;AF333758;AF354931;AF354932;AF354933;AMYH02024871;AP003127;BC034588;BC069322;BC101783;CH471076;HC007174;NM_139249 AAH34588;AAH69322;AAI01784;AAL07358;AAL07359;AAL07360;AAQ14868;ACT64587;ACT64588;ADQ32925;CBH19392;EAW73876;NP_640342;Q96DS6 Hs.662211 2151005 STS-H59599 MGC126832 OTTHUMP00000235787;OTTHUMP00000235788;membrane-spanning 4-domains subfamily A member 6E APPROVED protein-coding ENSG00000166926 HGNC:14285 12227 608402 REVIEWED 1313641 MS4A7 membrane-spanning 4-domains, subfamily A, member 7 This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 11 11 11 q12 57510336 57527810 + 60145949 60163427 + 60378485 60395954 + 1580863;6480464;8554872 11245982;11401424;11486273;11685457;11752456;12477932;14702039;15489334;16169070;16303743;20379614 58475 E9PIV6;E9PL98;E9PM26;E9PN40;Q9GZW8 AB026043;ABBA01021510;AF201951;AF237916;AF309653;AF350501;AK075106;AK297027;AK309884;AMYH02024871;AP003127;AV685115;AV690480;BC020673;CA449361;CD518120;CD706728;CH471076;CQ783142;CR457187;NM_021201;NM_206938;NM_206939;NM_206940 AAF17243;AAG30930;AAH20673;AAK37599;AAL56221;ABM85500;BAB18755;BAC11405;BAG59556;CAF86349;CAG33468;EAW73877;EAW73878;EAW73879;EAW73880;EAW73881;EAW73882;EAW73883;NP_067024;NP_996821;NP_996822;NP_996823;Q9GZW8 Hs.530735 1647963;1680986;2116194;2162263;2175089 A009H24;D11S3999;RH46578;RH46991;WI-12101 4SPAN2;CD20L4;CFFM4;MGC22368;MS4A8 CD20 antigen-like 4;CD20/Fc-epsilon-RI-beta family member 4;OTTHUMP00000235790;OTTHUMP00000235791;OTTHUMP00000235792;OTTHUMP00000236358;four-span transmembrane protein 2;high affinity immunoglobulin epsilon receptor beta subunit;membrane-spanning 4-domains subfamily A member 7 APPROVED protein-coding ENSG00000166927 HGNC:13378 07579 606502 REVIEWED 1319151 MS4A8 membrane-spanning 4-domains, subfamily A, member 8 This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008] 11 11 11 q12.2 57831254 57847490 + 60467046 60483284 + 60699574 60715811 + 1580863;6480464;8554872 11245982;11401424;11486273;12477932;15489334;17207965;23348583 83661 E9PJN8;E9PQE1;H0YD94;Q9BY19 ABBA01021513;AF237905;AF350504;AK308413;AK310872;AK310884;AK310969;AK315901;AMYH02024875;AP004243;BC022895;CH471076;NM_031457 AAH22895;AAK37414;AAL56224;ADQ32253;BAF98792;EAW73897;NP_113645;Q9BY19 Hs.150878 1737937;2114709;2130777 AFM350wa9;D11S3543;WI-14145 4SPAN4;CD20L5;MS4A4;MS4A8B OTTHUMP00000236467;OTTHUMP00000236468;four-span transmembrane protein 4;membrane-spanning 4-domains subfamily A member 8;membrane-spanning 4-domains subfamily A member 8B;membrane-spanning 4-domains, subfamily A, member 8B APPROVED protein-coding ENSG00000166959 HGNC:13380 08409 606549 REVIEWED 1345611 MS4A8A membrane-spanning 4-domains, subfamily A, member 8A 11245982 64229 AB026044 HGNC:13379 1604952 MSANTD1 Myb/SANT-like DNA-binding domain containing 1 INTERACTS WITH quercetin 4 4 4 p16.3 3162291 3169866 + 3250766 3273465 + 3246590 3271738 + 6480464 12477932 345222 D6R9L8;D6RD98;D6RDG6;Q6ZTZ1 ABBA01029474;AK126094;AL390059;AL645949;AMYH02008629;BC043530;CH471131;NM_001042690;XM_006713883;XR_241649 BAC86436;EAW82473;NP_001036155;Q6ZTZ1;XP_006713946 Hs.442291 C4orf44 OTTHUMP00000217075;OTTHUMP00000222907;OTTHUMP00000222908;OTTHUMP00000222909;hypothetical protein LOC345222;myb/SANT-like DNA-binding domain-containing protein 1;uncharacterized protein C4orf44;uncharacterized protein MSANTD1 APPROVED protein-coding HGNC:33741 16084 VALIDATED 1606219 MSANTD2 Myb/SANT-like DNA-binding domain containing 2 11 11 11 q24.2 121796569 121830500 - 124636388 124670868 - 124766492 124800972 - 12477932;14702039;15489334;16169070;19240061;21988832 79684 B4E1M0;E9PPE2;Q6P1R3 ABBA01031252;AK026995;AK092413;AK303902;AL512691;AMYH02025724;AMYH02025725;AP000866;BC064919;CH471065;DN991137;H97225;NM_001301087;NM_024631;XM_005271673;XM_005271674;XM_005271675;XM_005271676;XM_006718905;XM_006718906;XM_006718907;XM_006718908 AAH64919;BAB15618;BAG52548;BAG64832;CAC21648;EAW67600;EAW67601;NP_001288016;NP_078907;Q6P1R3;XP_005271730;XP_005271731;XP_005271732;XP_005271733;XP_006718968;XP_006718969;XP_006718970;XP_006718971 Hs.146079 1685329;1691266;1722701;1737887;1772243;2110917;2190605 D11S1236;D11S3490;D11S979E;G60435;HUEST-D29618;RH46280;RH78808 C11orf61;FLJ23342 OTTHUMP00000231531;OTTHUMP00000231532;OTTHUMP00000231533;hypothetical protein LOC79684;myb/SANT-like DNA-binding domain-containing protein 2;uncharacterized protein C11orf61;uncharacterized protein MSANTD2 APPROVED protein-coding ENSG00000120458 HGNC:26266 08024 VALIDATED 6480414 MSANTD2P1 Myb/SANT-like DNA-binding domain containing 2 pseudogene 1 21 21 21 q21.2 9655154 9657036 + 24473509 24475393 + 23101187 23103071 + 100130310 ABBA01057186;AMYH02037622;AP001116;NG_021997 pseudo HGNC:39637 INFERRED 1603187 MSANTD3 Myb/SANT-like DNA-binding domain containing 3 ENCODES a protein that exhibits identical protein binding (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; copper(2+) sulfate 9 9 9 q31.1 73702878 73726749 + 103189495 103214016 + 100427213 100451734 + 6480464 12477932;14702039;15146197;15334068;16344560;19322201;21139048;23455924 91283 Q96H12;X6R907;X6RL08 ABBA01042885;ABBA01042886;ABBA01042887;AK092292;AK314924;AL353805;AMYH02021339;AY598327;BC008993;BI596498;BI600290;BM914752;BU620865;CH471105;CN366267;DA424604;DR159535;NM_001198805;NM_001198806;NM_001198807;NM_080655 AAH08993;AAT06738;BAG37432;EAW58932;EAW58933;NP_001185734;NP_001185735;NP_001185736;NP_542386;Q96H12 Hs.530272;Hs.732964 1644499;1660996 RH48042;SHGC-58270 C9orf30;FLJ34973;L8;MGC17337 OTTHUMP00000021792;OTTHUMP00000021793;OTTHUMP00000021794;UPF0439 protein C9orf30;hypothetical protein LOC91283;myb/SANT-like DNA-binding domain-containing protein 3 APPROVED protein-coding ENSG00000066697 HGNC:23370 14459 VALIDATED 5013873 MSANTD3-TMEFF1 MSANTD3-TMEFF1 readthrough This locus represents naturally occurring read-through transcription from the neighboring MSANTD3 (Myb/SANT-like DNA-binding domain containing 3) and TMEFF1 (transmembrane protein with EGF-like and two follistatin-like domains 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2013] 9 9 q 103204188 103339918 + 100441906 100577636 + 6480464;8554872 20967262 100526694 Q8IYR6 ABBA01042885;ABBA01042886;AL353805;AL354917;AL831919;AMYH02021339;AMYH02021340;AMYH02021341;NM_001198812 CAD38580;NP_001185741 Hs.598100 1660996;2108577;2170843;2170845;2181992 A007J17;RH47334;RH47356;RH48042;TMEFF1_8835 C9orf3-TMEFF1;C9orf30-TMEFF1;DKFZp761G1118 C9orf30-TMEFF1 fusion protein;MSANTD3-TMEFF1 fusion protein;OTTHUMP00000220352 APPROVED protein-coding ENSG00000251349 HGNC:38838 VALIDATED 1603604 MSANTD4 Myb/SANT-like DNA-binding domain containing 4 with coiled-coils ENCODES a protein that exhibits DNA binding (inferred); FOUND IN nucleus; INTERACTS WITH atrazine; trichostatin A; pentachlorophenol (ortholog) 11 11 11 q22 103042885 103057210 - 105878629 105892981 - 106007902 106022254 - 6480464 11076863;11230166;11256614;11347906;12477932;14702039;15489336;16381901;19471022;20379614;21693764;25027693 84437 E9PKC8;E9PLV2;E9PRK0;Q8NCY6 AB058729;ABBA01039900;AF253976;AI399910;AK027790;AK293050;AL834523;AMYH02025514;AP000813;AX925956;BC041118;CH471065;NM_032424;XM_005271697;XM_005271698;XM_005271699;XM_005271700;XM_005271701 AAG44625;AAH41118;BAB47455;BAB55371;BAF85739;CAD39179;CAF02370;CAL38238;EAW67071;NP_115800;Q8NCY6;XP_005271754;XP_005271755;XP_005271756;XP_005271757;XP_005271758 Hs.266782 2180860 T03488 KIAA1826 OTTHUMP00000232288;OTTHUMP00000232289;coiled-coil domain-containing protein KIAA1826;hypothetical protein LOC84437;myb/SANT-like DNA-binding domain-containing protein 4 APPROVED protein-coding ENSG00000170903 HGNC:29383 11163 VALIDATED 1342483 MSBP1 minisatellite binding protein 1 3243550 4431 HGNC:7318 1348826 MSBP2 minisatellite binding protein 2, 77kDa 2062643 4432 HGNC:7319 1346252 MSBP3 minisatellite binding protein 3, 115kDa 2062643 4433 HGNC:7320 1313556 MSC musculin The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [provided by RefSeq, Jul 2008] 8 8 8 q21 68753235 68756193 - 72753777 72756731 - 71841542 71844496 - 1580863;6480464 10198176;11560778;12477932;15052269;15489334;16189514;16344560;18368067;20634891;8889548;9584154;9767165 9242 O60682 ABBA01041951;AC104012;AF060154;AF087036;AK313102;AMYH02018189;BC006313;BC067827;BM685164;BT007169;CH471068;DB257094;NM_005098 AAC15071;AAC69870;AAH06313;AAH67827;AAP35833;ADZ15935;EAW86984;NP_005089;O60682 Hs.442619 1335425;1677618;1796362 D8S570;MSC_943;RH93930 ABF-1;ABF1;MYOR;bHLHa22 OTTHUMP00000226810;activated B-cell factor 1, homolog of mouse musculin;activated B-cell factor-1;class A basic helix-loop-helix protein 22 APPROVED protein-coding ENSG00000178860 HGNC:7321 04694 603628 REVIEWED 1347317 MSD microcephaly with spastic diplegia (Paine syndrome) ASSOCIATED WITH Paine syndrome (inferred) 7240710 4434 HGNC:7322 311400 1602271 MSGN1 mesogenin 1 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN cell differentiation (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); segment specification (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl (ortholog); indole-3-methanol (ortholog); lead diacetate (ortholog) 2 2 2 p24.2 17878053 17878634 + 17997786 17998367 + 17816519 17817100 + 6480464;8554872 10837126;11181995 343930 A6NI15 ABBA01018508;AC093731;AMYH02003343;CH471053;NM_001105569 A6NI15;AAI72301;EAX00863;NP_001099039 Hs.705359 MSOG;pMsgn1 OTTHUMP00000214050;mesogenin-1;pMesogenin1;paraxial mesoderm-specific mesogenin1;paraxial mesogenin protein-coding ENSG00000151379 HGNC:14907 612209 PROVISIONAL 732745 MSH2 mutS homolog 2 This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 2 2 2 p21 47469014 47549030 + 47630206 47739716 + 47403067 47512577 + 1580863;1625106;2298950;2298951;2293507;2293517;2293519;2293516;2293523;2293505;2293511;2293524;2293528;2293506;2293514;2293504;2293509;2293512;2293513;2306716;2293502;2293503;2293515;2306714;6480464;6907045;7240710;8554872;8699517 10625070;10769643;11900875;11920468;14735197;15338238;15492498;15571801;15807307;15870899;16217293;16252083;16288216;16426918;16996262;17390069;17394628;17596548;17925543;17983514;18157157;18254781;18389386 10023327;10029069;10051005;10469597;10528862;10612836;10693791;10713887;10748159;10777691;10783165;10856833;10874318;10978353;11104559;11158177;11208710;11427529;11429708;11474654;11498787;11524701;11531323;11555625;11562928;11579115;11600610;11606497;11726306;11748856;11756455;11782355;11799067;11801590;11809679;11809883;11857301;11857745;11859209;11877377;11879922;11890986;11910346;11920650;11999575;12034830;12095971;12101417;12124176;12171929;12203789;12391284;12414623;12419761;12447371;12454801;12469220;12477932;12494471;12522549;12549480;12582944;12584560;12595050;12610360;12622604;12627520;12632492;12658575;12660027;12684669;12684691;12688322;12694232;12697969;12712438;12754350;12792735;12799449;12808326;12810667;12817878;12840015;12912950;12920342;12930688;12938096;14499697;14500385;14526391;14529665;14562278;14574163;14580774;14631366;14635101;14645426;14657349;14676842;14706347;14714570;14716824;14760534;14961575;15015769;15042510;15043284;15043999;15062061;15063132;15064730;15105434;15161053;15200905;15216397;15225546;15241839;15309712;15340264;15342696;15350299;15365995;15365996;15375803;15467428;15467433;15467751;15489334;15503820;15520370;15523694;15527911;15596632;15613860;15619620;15647386;15696491;15713769;15735976;15753043;15774782;15782118;15786548;15808853;15816455;15831578;15832775;15849733;15855819;15856462;15858146;15862756;15886699;15904475;15952990;15959913;15996210;16003840;16012876;16051665;16061855;16086322;16106253;16116158;16143124;16199548;16203774;16226712;16234028;16237223;16331552;16341550;16353134;16388310;16403449;16451135;16500024;16541406;16569647;16614121;16636019;16684085;16696788;16713580;16740762;16773692;16774946;16786121;16807412;16810763;16874859;16885385;16902769;16908935;16918138;16929514;16940983;16951290;16985024;16995940;17011982;17039269;17039271;17051350;17076561;17095871;17109103;17139886;17148452;17160686;17165155;17219447;17224235;17228328;17250661;17259174;17275176;17312306;17314511;17333219;17348456;17350822;17351251;17353931;17367211;17407090;17414604;17417778;17426439;17454882;17473388;17479411;17483304;17493242;17505997;17531106;17566596;17569143;17582678;17601929;17611581;17652529;17653898;17661183;17711772;17715146;17720936;17785078;17894833;17922223;17939062;17942459;17982623;17987798;18033691;18061181;18091433;18181177;18186537;18202787;18247557;18257912;18265645;18265677;18270339;18270343;18289827;18299982;18325052;18326858;18331286;18335504;18364438;18381419;18393252;18406877;18470917;18481196;18514060;18543228;18547406;18554281;18561205;18566915;18567801;18581137;18623088;18624996;18629513;18635600;18641418;18646042;18674656;18676680;18708397;18713544;18723338;18726168;18759827;18761787;18772310;18781192;18781619;18787700;18822302;18830263;18841495;18931482;18949393;18950845;18951462;18955159;18972272;19015241;19032668;19034977;19062740;19064572;19074885;19075283;19098912;19100506;19115210;19132747;19160096;19170196;19207881;19215248;19228687;19237577;19237606;19244167;19254532;19267393;19291797;19337631;19351817;19377479;19383374;19390556;19394292;19418671;19419416;19423266;19464205;19468048;19471022;19486659;19525234;19526325;19536092;19582509;19596235;19615732;19621678;19621725;19622357;19625176;19635727;19639020;19669161;19669601;19685281;19692168;19697156;19707776;19714462;19720893;19723918;19728162;19734583;19741564;19759184;19760518;19818066;19861671;19876921;19888426;19893772;19898223;19900449;19911012;19930554;19946888;19950599;20004149;20028567;20056646;20064472;20072951;20085707;20090515;20095990;20150366;20154325;20160730;20181625;20188637;20201926;20206180;20210238;20223108;20301390;20305087;20305446;20332274;20368715;20373145;20379614;20388775;20403997;20437058;20438357;20453000;20458443;20495877;20496165;20505253;20564624;20591884;20672385;20708344;20731661;20846263;20850175;20872076;20931542;20937110;21029181;21034533;21047769;21056691;21070872;21075794;21078976;21091774;21093899;21093954;21122410;21128252;21139048;21155023;21156417;21252943;21285353;21286667;21309037;21319273;21323960;21348638;21354521;21358597;21360204;21419447;21419771;21425258;21431882;21513149;21528083;21538690;21549307;21559014;21615986;21642682;21660619;21674174;21681552;21693764;21706233;21725088;21732224;21744313;21766496;21778331;21821902;21855803;21865299;21890473;21900206;21906983;21911971;21926548;21937259;21937421;21946537;21960445;21963094;21975120;21988782;22017238;22067334;22083523;22086974;22164234;22173703;22179786;22188021;22188959;22190034;22219001;22222486;22234160;22265839;22277660;22287095;22331944;22371642;22378480;22386861;22433851;22453149;22456432;22493490;22581703;22586326;22614019;22635031;22669205;22739024;22775459;22776989;22781090;22797925;22806311;22863883;22865300;22883484;22902628;22939629;22941650;23000965;23045530;23143558;23149851;23170986;23231927;23255516;23301373;23329266;23376256;23391514;23401454;23434150;23485110;23526924;23573243;23703321;23787767;23788249;23794306;23817394;23865379;23904372;24038355;24039744;24073290;24078570;24090359;24122742;24212987;24250222;24317816;24323032;24332808;24333619;24366688;24395779;24400091;24444820;24530475;24643686;24933000;24966277;25027693;4016686;7585546;7585562;7604264;7713503;7726159;7874129;7923193;7973733;8036718;8062247;8125298;8156592;8168125;8252616;8261515;8484120;8566964;8690195;8700523;8723682;8769132;8797773;8805365;8858149;8872463;8889548;8942985;8993976;9024626;9048925;9060003;9087566;9111864;9207118;9217825;9240418;9259192;9298827;9311737;9428522;9490293;9559627;9621522;9709044;9718327;9740671;9774676;9777949;9788596;9843200 4436 C9J809;E9PHA6;P43246 ABBA01075162;ABBA01075163;ABBA01075164;ABBA01075165;AC079775;AC138655;AF066081;AK222860;AK223284;AK296831;AK297763;AK299667;AK304496;AK311330;AMYH02003755;AMYH02003756;AMYH02003757;AY344477;AY601851;BC001122;BC012599;BC021566;BX649122;CB250419;CH471053;DC342099;DQ648894;DQ648895;DQ648896;DQ648897;L47574;L47575;L47576;L47577;L47578;L47579;L47580;L47581;L47582;L47583;NG_007110;NM_000251;NM_001258281;U03911;U04045;U41221;XM_005264332 AAA18643;AAA61870;AAA76858;AAA82080;AAB59564;AAB59565;AAB59566;AAB59567;AAB59568;AAB59569;AAB59570;AAB59571;AAB59572;AAC27930;AAH21566;AAQ23475;AAS99351;AAY15096;ABG49489;ABG49490;ABG49491;ABG49492;ABM83484;ABM86698;BAD96580;BAD97004;BAG59401;BAG60111;BAG61581;BAG65304;EAX00213;EAX00214;EAX00215;NP_000242;NP_001245210;P43246;XP_005264389 Hs.597656 1688614;1745289;1745295;1745301;1745303;1745305;1745307;1745309;1745311;1745313;1745315;1745317;1745319;1745321;1745323;1745325;1789256;2107415;2120026;2125164;2158009;5117412;5122448 D2S2563;G65627;GDB:549135;GDB:599286;GDB:599300;GDB:599318;GDB:599321;GDB:599324;GDB:599327;GDB:599341;GDB:599344;GDB:599347;GDB:599356;GDB:599360;GDB:599364;GDB:599367;GDB:599372;GDB:599380;MSH2_3164.2;RH70533;RH93469;SHGC-2762;WI-18791 COCA1;FCC1;HNPCC;HNPCC1;LCFS2;hMSH2 DNA mismatch repair protein Msh2;OTTHUMP00000159084;OTTHUMP00000200306;mismatch repair protein;mutS homolog 2, colon cancer, nonpolyposis type 1;mutS protein homolog 2 APPROVED protein-coding ENSG00000095002 HGNC:7325 00389 120435;158320;276300;609309 REVIEWED 1353031 MSH3 mutS homolog 3 The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011] 5 5 5 q11-q12 75854379 76076910 + 79950467 80172634 + 80654648 80876815 + 1625103;1600456;1580863;2306716;6480464;6907045;8554872 18157157;8782829;9401011 10029069;10871409;10944853;11005803;11274057;11427529;11498787;11756455;11809883;11895912;11920679;12014680;12171929;12477932;14510941;14578343;14625810;14657349;14871813;15489334;15541380;16388310;16552576;16774946;17148452;17205513;17314511;17456004;17494052;17676485;17715146;17950544;18029348;18355840;18364438;18676680;18683134;18701435;18723338;18922920;19064572;19115210;19170196;19237606;19377479;19468048;19525234;19536092;19596235;19625176;19692168;19730683;19894224;19913121;19946888;19948975;20154325;20160730;20188637;20379614;20453000;20496165;20628086;20632816;20708618;20845481;20869096;21128252;21139048;21285347;21344488;21549307;21906983;21960445;21974800;21988832;22110587;22179786;22249440;22343000;22939629;22941650;23226332;23339595;23724141;24332808;2722860;6323448;8029024;8805365;8838312;8851770;8942985;9774676 4437 P20585 AA601983;ABBA01062045;AC008434;AC010270;AC022493;AI817671;AK289856;AMYH02011673;AMYH02011674;AY275681;BC004177;BC011817;BC017273;BC098436;BC130434;BC130436;BF593920;CH471084;D61419;J04810;KC877028;NG_016607;NM_002439;U61981 AAB06045;AAB47281;AAH11817;AAI30435;AAI30437;AAP13535;BAD27111;BAF82545;EAW95861;EAW95862;NP_002430;P20585 Hs.280987;Hs.648635 1750975;1778590;1785696;1785788;1788106;1788108;1788110;1788112;1788114;1789142;1792356;1797886;1853588;2114875;2147239 G20893;G65717;G67223;G67224;G67225;G67226;G67227;L28413;MSH3_467;PMC149466P1;SHGC-104881;SHGC-31088;SHGC-79040;SHGC-85199;WI-18379 DUP;MGC163306;MGC163308;MRP1;hMSH3 DNA mismatch repair protein Msh3;OTTHUMP00000222287;divergent upstream protein;mismatch repair protein 1 APPROVED protein-coding ENSG00000113318 HGNC:7326 02931 600887 REVIEWED 1319392 MSH4 mutS homolog 4 This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011] 1 1 1 p31 74502536 74619128 + 76262556 76379581 + 75796871 75913238 + 1580863;6480464;8554872 10029069;10809667;10928988;11948175;11950880;12095912;12477932;12591739;15304223;15489334;15907804;16122992;16344560;16397227;17127347;17869244;17977839;18166824;18270339;19064572;20378615;21126912;23725059;23964080;24145748;9299235;9787078 4438 O15457;Q5ZEZ0 ABBA01074414;ABBA01074415;ABBA01074416;AF104243;AJ844635;AL357314;AL445464;AMYH02001282;AMYH02001283;AMYH02001284;AMYH02001285;AMYH02001286;AY268350;BC033030;CH471059;DB077677;NG_029861;NM_002440;U89293 AAB72039;AAD17920;AAH33030;AAP03427;ABM82185;ABM85371;CAH59752;EAX06392;EAX06393;NP_002431;O15457 Hs.216639 2217642 MSH4_3337 hMSH4 OTTHUMP00000011349;mutS protein homolog 4 APPROVED protein-coding ENSG00000057468 HGNC:7327 03658 602105 REVIEWED 1343663 MSH5 mutS homolog 5 This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011] 6 6 6 p21.3 33305954 33328700 + 31707725 31730455 + 31739948 31762678 + 1580863;6480464 10029069;12477932;12591739;14574404;14656967;14702039;14718574;15304223;15489334;15907804;16122992;16397227;16712791;17127347;17409188;17672918;17869244;17977839;18166824;18204446;18270339;18459961;18978787;19143814;19143821;19442657;19808033;19851445;20185565;20378615;20542071;20587610;20848568;21906983;22401567;22917773;24023853;24250222;2477242;8812450;9740671;9787078;9916805 4439 A2ABE9;A2ABF0;A2ABF1;B4DZX3;H0YDS7;H7C2J4;H7C572;H7C5D6;O43196;Q5SSR2;Q9UFG2 AB209886;ABBA01038084;ABBA01038085;AF034759;AF048986;AF048991;AF070071;AF070079;AF129756;AF134726;AK097233;AK303129;AK304221;AL662834;AL662899;AL844216;AMYH02013453;AY943816;BA000025;BC001358;BC002498;BC041031;BF116106;BG719397;BT007200;BX248133;BX248244;CB155199;CH471081;CR354443;CR759787;CR759915;CR925765;CR936239;DB448226;NG_011611;NM_002441;NM_025259;NM_172165;NM_172166 AAB87632;AAC62533;AAC62534;AAC70066;AAC70067;AAD18072;AAD21822;AAH01358;AAH02498;AAH41031;AAP35864;AAX20111;BAB63375;BAD93123;BAG53438;BAG64235;BAG65093;EAX03506;EAX03507;EAX03508;EAX03509;EAX03510;EAX03511;EAX03512;EAX03513;EAX03514;EAX03515;EAX03516;EAX03517;EAX03518;EAX03519;EAX03520;NP_002432;NP_079535;NP_751897;NP_751898;O43196 Hs.647011 1699840;1713867;2106207;2106209;2106211;2189741;5015404;5015861;5015879;5016478;5020740;5020946;5022200;5022450;5022463;5022578;5022588;5024413;5024516;5037552;5118444;7185938 21-8631;D10S16;D10S275;D11S3316;D13S1568;D1S1423;D3S1673;D5S1597E;D6S2780;D6S2781;D8S2279;GDB:314949;GDB:434012;L17705;L17809;L17877;L17971;L18426;N3_2_1;RH103527;RH119364 DKFZp434C1615;G7;MGC2939;MutSH5;NG23;hMSH5 OTTHUMP00000029187;OTTHUMP00000029188;OTTHUMP00000174479;OTTHUMP00000174480;OTTHUMP00000215252;OTTHUMP00000215278;OTTHUMP00000236429;mutS protein homolog 5 APPROVED protein-coding ENSG00000204410;ENSG00000255152 HGNC:7328 04544 603382 REVIEWED 5133069 MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring mutS homolog 5 (MSH5) and chromosome 6 open reading frame 26 (C6orf26) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 6 6 p 31707725 31732627 + 31739948 31764850 + 6480464;8554872 18204446;20967262;2477242;8812450 100532732 H0YEB2;H0YF11 ABBA01038084;ABBA01038085;AJ245661;AL122094;AL662834;AL662899;AL844216;AMYH02013453;BX248133;BX248244;CR354443;CR759787;CR759915;CR925765;CR936239;NR_037846 CAB52406;CAB59262 Hs.647011 DKFZp434C1615;MSH5-C6orf26 APPROVED ncrna ENSG00000255152 HGNC:41994 VALIDATED 1321738 MSH6 mutS homolog 6 This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013] 2 2 2 p16 47849755 47873614 + 48010221 48034092 + 47783082 47806953 + 1625103;1580863;1625106;1600460;2293507;2293511;2293502;2306716;2293503;2293505;2306714;4143515;6480464;6907045;7240710;8699517;8554872 11900875;15571801;16288216;16996262;17394628;18157157;18254781;18389386;19078924;7604266;9401011 10029069;10480359;10508506;10521294;10537275;10748159;10783165;10856833;10871409;10954713;11005803;11245474;11274057;11333868;11474654;11498787;11524701;11586295;11600610;11709755;11756455;11801590;11807791;11809883;11877377;12019211;12034830;12171929;12376742;12477932;12522549;12537658;12574395;12732731;12799449;12920072;12974384;14500385;14520694;14585961;14645426;14657349;14767555;14961575;14974087;15043999;15064730;15098177;15105434;15225546;15274658;15302935;15365995;15489334;15613860;15753043;15805151;15808853;15855819;15952990;16051665;16106253;16116158;16203774;16237223;16344560;16388310;16391231;16403449;16408224;16418736;16565220;16636019;16638864;16740762;16771955;16774946;16807412;16885385;16902769;16964243;17039270;17081983;17095871;17108146;17148452;17205513;17259174;17312306;17314511;17348456;17353931;17417778;17438703;17454882;17456004;17493242;17498565;17557300;17653898;17676485;17715146;17718861;17785078;17854147;17920897;17942459;18030674;18033691;18065960;18091433;18247557;18257912;18269114;18301448;18326858;18355840;18364438;18409202;18481196;18484749;18514060;18523027;18554281;18566915;18624996;18625694;18676680;18701435;18723338;18759827;18790734;18841495;18851982;18950845;18972272;19012493;19064572;19075283;19115210;19132747;19170196;19173809;19215248;19237577;19237606;19244167;19248684;19254532;19337631;19351817;19377479;19471022;19486659;19492230;19526325;19536092;19553677;19582761;19584161;19596686;19622357;19625176;19635727;19685280;19692168;19707776;19714462;19723918;19787250;19851887;19861671;19876921;19898223;19900449;19924528;20015892;20028567;20028993;20029092;20064472;20085707;20149637;20160730;20188637;20206180;20223108;20301390;20453000;20473970;20495877;20496165;20591884;20632815;20800603;20850175;20872076;20924129;20937110;21035467;21056691;21075794;21081928;21107085;21139048;21145461;21155762;21252943;21334712;21425258;21431882;21437237;21549307;21559014;21642682;21674763;21685187;21710692;21725088;21836479;21855803;21890473;21906983;21911971;21937421;21963094;21987572;22053931;22108332;22113938;22164234;22219001;22232658;22250089;22277660;22287095;22331944;22456432;22484182;22495361;22505724;22581703;22586326;22672937;22776989;22814321;22851212;22863883;22902628;22918162;22939629;23000965;23045530;23057844;23301373;23313663;23365123;23391514;23401454;23434150;23622243;23752268;23788249;23794306;23817394;23862649;23957009;24038355;24040339;24072394;24078570;24090359;24100870;24323032;24395779;24444820;24622885;24643686;24926095;24958773;25027693;7604264;7604265;8782829;8838326;8942985;9354786;9428522;9455487;9491849;9774676 2956 C9J7Y7;C9J8Y8;C9JH55;F8W7G9;F8WAX8;P52701;Q3SWU9;U3KQ72 ABBA01075173;ABBA01075174;ABBA01075175;ABBA01075176;AC006509;AK130683;AK293921;AK304735;AK308392;AMYH02003764;AMYH02003765;AMYH02003766;AMYH02003767;AY082894;BC004246;BC071594;BC104665;CH471053;D89645;D89646;DA857066;NG_007111;NM_000179;NM_001281492;NM_001281493;NM_001281494;U28946;U54777;U73737;XM_005264271;Y16676 AAB39212;AAB47425;AAC50461;AAH04246;AAI04666;AAL87401;ABM83824;BAA23673;BAA23674;BAA23675;BAG57302;BAG65496;CAC79990;EAX00208;EAX00209;NP_000170;NP_001268421;NP_001268422;NP_001268423;P52701;XP_005264328 Hs.445052 1683819;1745877;1745879;1788316;1788318;1788320;1788322;1788324;1788626;1793692;2119936;2148514;5118061 G67491;G67492;G67493;G67494;G67495;GDB:681244;GDB:681246;GDB:681248;PMC262342P1;RH126790;RH75921;SHGC-32288;WI-20981 GTBP;GTMBP;HNPCC5;HSAP;hMSH6;p160 DNA mismatch repair protein Msh6;G/T mismatch-binding protein;OTTHUMP00000159397;mutS-alpha 160 kDa subunit;sperm-associated protein APPROVED protein-coding ENSG00000116062 HGNC:7329 07202 276300;600678;608089;614350 REVIEWED 731816 MSI1 musashi RNA-binding protein 1 This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. [provided by RefSeq, Jul 2008] 12 12 12 q24 120412237 120440052 - 120779133 120806983 - 120341330 120369180 - 1582664;633285;1580863;6480464;6907045 12205668;15250238 11284014;11359897;11588182;11686236;11896183;11951628;12054577;12907678;12924647;14702039;16106215;16169070;16214366;16541075;16777095;17549630;18419830;18471519;18473332;18826648;19214660;19258308;19714342;20020773;20727204;21139048;21165952;21199875;21442350;21751144;21829201;21832049;21881409;21890473;21906983;22012766;22113197;22258704;22985791;23017339;23164718;23418578;23715514;24057325;24061461;24151393;24365097;24525742;24778252;9790759 4440 H0YHB7;O43347 AB012851;AB072590;AB072591;AB072592;AB073212;ABBA01020110;AC003982;AI583233;AK023262;AMYH02027369;BX393884;CH471054;HB886867;HC944276;NM_002442;XM_006719403;XM_006719404 AAB95636;AAI40381;AAI46464;BAA33962;BAB69767;BAB69768;BAB69769;BAB70469;BAG51178;CBF67590;CBU92464;EAW98185;EAW98186;EAW98187;NP_002433;O43347;XP_006719466;XP_006719467 Hs.158311 1723431;2136098 RH118532;WI-17776 OTTHUMP00000240865;RNA-binding protein Musashi homolog 1;musashi-1;musashi1 APPROVED protein-coding ENSG00000135097 HGNC:7330 04509 603328 REVIEWED 1352746 MSI2 musashi RNA-binding protein 2 This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q22 51795383 52219094 + 55333931 55762050 + 57256570 57684689 + 6480464;6907045;8554872 10737800;11588182;12477932;12649177;14702039;15489334;18815193;19738201;19913121;20000738;20020773;20379614;20628086;20639863;20823875;20936779;21139048;21145461;21753187;21890473;21906983;22113197;22784712;23000965;23233047;23667531;23759245;23870195;24002004;24076374;24305552;24332808;24457600;25027693 124540 B4DHE8;B4DM51;J3KTC1;J3QKT5;Q96DH6 ABBA01041313;ABBA01041314;ABBA01041315;ABBA01041316;AC005325;AC007431;AC015883;AC091181;AI798817;AK093888;AK295060;AK297295;AMYH02033671;AMYH02033672;AMYH02033673;AMYH02033674;BC001526;BC017560;BE836557;BX647939;CH471109;HB886953;HC944362;NM_138962;NM_170721;XM_005257014;XM_005257015;XM_005257016;XM_005257018;XM_006721681 AAH01526;AAH17560;ABM83243;ABM86445;BAC04244;BAG58109;BAG59763;CBF67633;CBU92507;EAW94506;EAW94507;EAW94508;EAW94509;EAW94510;EAW94511;EAW94512;NP_620412;NP_733839;Q96DH6;XP_005257071;XP_005257072;XP_005257073;XP_005257075;XP_006721744 Hs.658922 1336513;1338477;1339459;1339660;1340048;1342059;1646601;1665113;1686432;1722635;1731503;1755625;1758429;1760891;1788962;1796364;1847199;2152251;2156523;2171435;2180014;2184901;5024039;5109281;7185698 D16S325;D17S1153;D17S1160;D17S1605;D17S1606;D17S1853;D17S666;D17S890;D17S957;D1S1425;G60401;G65557;MSI2_1543;RH12431;RH45027;RH78952;RH91828;SGC30816;SHGC-142480;SHGC-144556;SHGC-148302;STS-H08804;STS-H84456;WI-17928 FLJ36569;MGC3245;MSI2H RNA-binding protein Musashi homolog 2;musashi homolog 2;musashi-2 APPROVED protein-coding ENSG00000153944 HGNC:18585 07438 607897 REVIEWED 1349138 MSK10 antigen identified by monoclonal antibody AJ425 6593709 4448 HGNC:7332 1351323 MSK32 antigen identified by monoclonal antibody K66 3456173 4467 HGNC:7356 1349659 MSK34 antigen identified by monoclonal antibody CNT/6 4469 HGNC:7358 1348234 MSK38 antigen identified by monoclonal antibody O5 4473 HGNC:7362 1344255 MSK9 antigen identified by monoclonal antibody K15 6593709 4447 HGNC:7369 2307385 MSL1 male-specific lethal 1 homolog (Drosophila) INVOLVED IN histone H4-K16 acetylation; FOUND IN MSL complex; nucleus; INTERACTS WITH formaldehyde; lead(0); lead(2+) 17 17 17 q21.1 34939245 34953515 + 38278235 38293047 + 40121983 40136794 + 6480464 12477932;12698291;14702039;16227571;16543150;18029348;18654987;19471022;19650074;20360068;20479123;21217699;21726816;22678362;23084835;23667531;23891004;24205110;24816145;24837678 339287 B3KWR7;J3KRQ4;J3KSZ8;J3KTC2;J3QQY0;Q68DK7 ABBA01031843;ABBA01031844;AC068669;AK055378;AK124185;AK125654;AK297619;AL049450;AMYH02033394;BC039449;BC118997;BC122543;BX647188;CR749360;NM_001012241;R23466;XM_005257298;XM_005257299 AAI18998;AAI22544;ACE86689;ACE87373;BAG54229;BAG59995;CAH10734;CAH18213;NP_001012241;Q68DK7;XP_005257355;XP_005257356 Hs.532786 1644623;1652038;1797136 A006V28;LOC339287;WI-17575 DKFZp686J17211;MGC141861;MSL-1;hMSL1 MSL1-like 1;male-specific lethal 1 homolog;male-specific lethal 1-like 1;male-specific lethal-1 homolog 1 protein-coding ENSG00000188895 HGNC:27905 614801 VALIDATED 1343514 MSL2 male-specific lethal 2 homolog (Drosophila) ENCODES a protein that exhibits ligase activity (inferred); zinc ion binding (inferred); INVOLVED IN histone H4-K16 acetylation; FOUND IN MSL complex; INTERACTS WITH arsenous acid; benzene; benzo[a]pyrene diol epoxide I 3 3 3 q22.3 134293973 134340053 - 135867760 135915522 - 136148918 136197254 - 6480464 10997877;12477932;12698291;14702039;16227571;16344560;16543150;19033443;20360068;20479123;20686565;20936779;21726816;22493164;22678362;23084835;23874665;23891004;23969696;24097068;24250222;24837678;9409833 55167 C9IZ03;C9IZG7;C9J5S2;Q9HCI7 AB046805;ABBA01059132;ABBA01059133;ABBA01059134;ABBA01059135;AC092991;AK001408;AK091956;AK292557;AK302491;AL834289;AMYH02007737;AMYH02007738;AMYH02007739;AMYH02007740;AW237818;AW271295;BC032719;BC093764;BC093790;CH471052;DA674784;DC409643;NM_001145417;NM_018133;XM_005247571;XM_005247572;XM_006713684 AAH32719;AAH93764;AAH93790;BAA91673;BAB13411;BAF85246;BAG63776;CAD38963;EAW79119;EAW79120;NP_001138889;NP_060603;Q9HCI7;XP_005247628;XP_005247629;XP_006713747 Hs.18631 FLJ10546;FLJ54913;KIAA1585;MSL-2;MSL2L1;RNF184 E3 ubiquitin-protein ligase MSL2;MSL2-like 1;OTTHUMP00000216516;OTTHUMP00000216517;OTTHUMP00000216518;OTTHUMP00000216519;OTTHUMP00000216520;male-specific lethal 2 homolog;male-specific lethal 2-like 1;male-specific lethal 2-like 1 (Drosophila);male-specific lethal-2 homolog 1;ring finger protein 184 protein-coding ENSG00000174579 HGNC:25544 08550 614802 VALIDATED 1605696 MSL3 male-specific lethal 3 homolog (Drosophila) This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010] X X X p22.3 15904870 15922463 + 11776278 11793872 + 11758159 11775753 + 6480464 10395802;10908644;12477932;15302935;15489334;16227571;16344560;20360068;20479123;20657587;20943666;21217699;21832049;21890473;22094256;23000965;23602568;23667531;24837678 10943 A6NLU8;C9JKR8;C9JXM9;F8WC61;H7BYE4;Q8N5Y2 ABBA01070944;ABBA01070945;AC004554;AF117065;AK000793;AK025642;AK289780;AK294255;AK300814;AK304419;AL050178;AL713667;AMYH02038866;BC010925;BC017267;BC031210;BI091178;BI560203;CH471074;CT002798;DA172776;DA788603;DA961602;DB240082;DC395802;NG_012564;NM_001193270;NM_001282174;NM_006800;NM_078628;NM_078629;XM_005274440;XM_006724461 AAD38499;AAH31210;ABM82587;ABM85774;BAF82469;BAG62470;BAG65249;BAH11713;CAB43308;CAD28473;EAW98799;EAW98800;EAW98801;EAW98802;NP_001180199;NP_001269103;NP_006791;NP_523352;NP_523353;Q8N5Y2;XP_005274497;XP_006724524 Hs.655288 1650021;1670571;1680088;1773115;1949478;2191289;2201542;5095058;5113561 DXS6995E;G22307;MARC_17111-17112:1020872220:1;MSL3L1;REN45587;RH27237;RH77758;SHGC-32403;stSG620220 DKFZp586J1822;MSL3L1 MSL3-like 1;OTTHUMP00000022908;OTTHUMP00000022909;OTTHUMP00000022911;OTTHUMP00000022912;drosophila MSL3-like 1;male-specific lethal 3 homolog;male-specific lethal 3-like 1;male-specific lethal-3 homolog 1;male-specific lethal-3 protein-like 1 APPROVED protein-coding ENSG00000005302 HGNC:7370 05344 300609 REVIEWED 1344504 MSL3P1 male-specific lethal 3 homolog (Drosophila) pseudogene 1 INVOLVED IN chromatin modification (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 2 2 2 q37.1 228494505 228497478 - 234774083 234777055 - 233865437 233868409 - 16227571;20479123 151507 P0C860 AA806373;ABBA01001951;AC005538;AK301707;AK316372;AMYH02006011;AW371403;BI831020;CH471063;DB457661;DC394932;NR_024322 BAG63179;BAH14743;EAW71066;P0C860 Hs.355809 1773115;1805338;1805678;1839796;1949460;1949462;1949464;1949466;1949468;1949470;1949472;1949474;1949476;1949478;1949480;1949482;1949484;1949486;1949488;1949490;1949492;1949494;1949496;2201538;2201540;2201544;5095058;5113561 ECD03616;ECD03789;ECD21081;MSL3L1;REN45578;REN45579;REN45580;REN45581;REN45582;REN45583;REN45584;REN45585;REN45586;REN45587;REN45588;REN45589;REN45590;REN45591;REN45592;REN45593;REN45594;REN45595;REN45596;RH27237;SHGC-32403;stSG620218;stSG620219;stSG620221 FLJ79271;MSL3L2 MSL3-like 2;male-specific lethal-3 homolog 2;putative male-specific lethal-3 protein-like 2 APPROVED pseudo ENSG00000224287 HGNC:17837 VALIDATED 1349818 MSLN mesothelin This gene encodes a precursor protein that is cleaved into two products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiation factor functions as a cytokine that can stimulate colony formation in bone marrow megakaryocytes. Mesothelian is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 16 16 16 p13.3 1010640 1018740 + 810765 818865 + 760765 768865 + 1580863;2326065;2326052;2326064;2326057;2326046;2326055;2326059;2326056;2326062;2326060;6480464 12874021;16416732;17019794;17276942;17581599;17785569;18281514;18505465;19818733;19843662 10500211;10683314;11157797;12477932;14676194;15140265;15217923;15489334;15616553;15623661;15897581;16428485;16467095;16602701;16638849;16677756;16857795;17067392;17598982;17803679;18042078;18064689;18154821;18167128;18245228;18281122;18316566;18347077;18394747;18546615;18670302;18691948;18788634;18978568;19010822;19020717;19075018;19293794;19747165;19858537;20131968;20349783;20453000;20573372;20593939;20596597;20815094;20943257;21288909;21333373;21397972;21483773;21508397;21515913;21538952;21574151;21632639;21775819;21775916;21780126;21841505;21880146;21988832;21999204;22113177;22149739;22237988;22320398;22351743;22371455;22377706;22386954;22412141;22721387;22729037;22787150;22792233;22835614;22939629;23034174;23064529;23093275;23225411;23249166;23267165;23277285;23321167;23357461;23512344;23532816;23694968;23810431;23873013;23991032;24146039;24324091;24344503;7665620;8288629;8552591;9178820 10232 H3BMA1;H3BR90;H3BUX1;H3BV92;Q13421 ABBA01030345;ABBA01030346;ABBA01030347;AE006464;AF180951;AL031258;AL545401;AMYH02031205;AMYH02031206;AMYH02031207;AY743922;BC003512;BC009272;CB266931;CH471112;D49441;NM_001177355;NM_005823;NM_013404;U40434;XM_005255034;XM_006720836;XM_006720837 AAC50348;AAF01409;AAH03512;AAH09272;AAK61253;AAV87530;ABM82874;ABW03459;BAA08419;EAW85719;EAW85720;EAW85721;NP_001170826;NP_005814;NP_037536;Q13421;XP_005255091;XP_006720899;XP_006720900 Hs.408488 1657293 RH71325 CAK1;MPF;SMR;SMRP CAK1 antigen;OTTHUMP00000045636;megakaryocyte potentiating factor;pre-pro-megakaryocyte-potentiating factor;soluble MPF mesothelin related protein APPROVED protein-coding ENSG00000102854 HGNC:7371 03030 601051 REVIEWED 1351302 MSLNL mesothelin-like INVOLVED IN cell adhesion (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); benzo[a]pyrene (ortholog); potassium dichromate (ortholog) 16 16 16 p13.3 1019315 1032813 - 819428 831996 - 769428 781996 - 6480464 11157797;21841505;22265842 401827 H0YG18;Q96KJ4 ABBA01030345;AE006464;AL031258;AMYH02031207;AMYH02031208;BK008392;CH471112;NG_032123 AAK61254;EAW85716;EAW85717;EAW85718;Q96KJ4 C16orf37;MPFL MPF-like;OTTHUMP00000239445;megakarycyte potentiating factor;mesothelin-like protein;pre-pro-megakaryocyte-potentiating-factor-like pseudo HGNC:14170 INFERRED 69208 MSMB microseminoprotein, beta- The protein encoded by this gene is a member of the immunoglobulin binding factor family. It is synthesized by the epithelial cells of the prostate gland and secreted into the seminal plasma. This protein has inhibin-like activity. It may have a role as an autocrine paracrine factor in uterine, breast and other female reproductive tissues. The expression of the encoded protein is found to be decreased in prostate cancer. Two alternatively spliced transcript variants encoding different isoforms are described for this gene. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q11.2 42850152 42863194 + 51549553 51562517 + 46033305 46046269 - 1580863;6480464;7240710;8554872 10491085;10810306;11788998;12032598;12477932;15344909;15489334;15950934;16341674;16930619;17062675;17237810;17493883;17634540;1783399;18222915;18264096;18264097;18794092;19026612;19081476;19153072;1930232;19318432;19342788;19366831;19383797;19407392;19423541;19434657;19549807;19900942;19902474;19997100;20139978;20184897;20333697;2037304;20424135;20450899;20460480;2054385;20564319;20569440;20676098;20676114;20680031;20690139;20696662;20717903;20736317;20878950;20967219;21071540;21085629;21160077;21240253;21743057;21832049;22496651;22661295;22887727;22993349;2322265;23269536;23375721;23555189;23608167;24037734;24115268;2475560;2590204;2758596;3829888;3995056;6434350;7506990;7566962;7608123;7671139;8117114;8978767;9774712 4477 P08118 ABBA01033535;ABBA01033536;ABBA01033537;AJ133356;AK312108;AL450342;AMYH02023032;AMYH02023033;BC005257;BF680662;BM856408;BT006816;CH471260;CR457015;D28485;M15885;M34376;NG_011551;NM_002443;NM_138634;S67815;U22178;U78976;X57928;X57929;X57930;X57931 AAA36635;AAA59871;AAA83556;AAB29732;AAB37355;AAH05257;AAP35462;ABM83424;ABM86637;BAG35044;CAA41002;CAB39325;CAG33296;EAW53683;EAW53684;EAW53685;NP_002434;NP_619540;P08118 Hs.255462 2113938;2133884;2171788 MSMB;SGC35292;STS-X57928 HPC13;IGBF;MSP;MSPB;PN44;PRPS;PSP;PSP-94;PSP57;PSP94 OTTHUMP00000019596;OTTHUMP00000019597;beta-microseminoprotein;immunoglobulin binding factor;immunoglobulin-binding factor;microseminoprotein, beta;prostate secreted seminal plasma protein;prostate secretory protein of 94 amino acids;prostatic secretory protein 94;seminal plasma beta-inhibin APPROVED protein-coding ENSG00000263639 HGNC:7372 01143 157145;611928 REVIEWED 737148 MSMO1 methylsterol monooxygenase 1 Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q32-q34 163584245 163599652 + 166248818 166264316 + 165327666 165343164 + 1580863;6480464 12477932;15489334;16713569;18660489;18781797;19322201;21103663;21139048;21285510;21890473;21906983;21963094;21987572;22505724;22791750;22939629;23000965;24144731;24654937;24816145;8663358;8889548 6307 D6R952;D6RDP9;D6REA2;Q15800 ABBA01070291;AC012504;AK292418;AK295432;AK309206;AMYH02010439;AMYH02010440;AMYH02010441;AV704962;BC010653;BC107879;BU676028;BU940384;BX441001;CH471056;FB336810;HH768149;NM_001017369;NM_006745;U60205;U93162;XM_005263176 AAB81566;AAC50587;AAH10653;AAI07880;ABM81986;ABM85163;BAF85107;BAH12066;CAR81350;CBX84826;EAX04820;EAX04821;NP_001017369;NP_006736;Q15800;XP_005263233 Hs.105269 2115514;2138248;2148046;2169367;2173445;5037552 1362;A007J08;D8S2279;G33491;SHGC-33293;STS-D29470 DESP4;ERG25;MGC104344;SC4MOL C-4 methyl sterol;C-4 methylsterol oxidase;OTTHUMP00000219757;OTTHUMP00000219758;OTTHUMP00000219759;OTTHUMP00000219760;methylsterol monooxygenase;sterol-C4-methyl oxidase-like APPROVED protein-coding ENSG00000052802 HGNC:10545 07396 607545 REVIEWED 2304156 MSMP microseminoprotein, prostate associated This gene encodes a member of the beta-microseminoprotein family. Members of this protein family contain ten conserved cysteine residues that form intra-molecular disulfide bonds. The encoded protein may play a role in prostate cancer tumorigenesis. [provided by RefSeq, Jan 2011] 9 9 9 p13.3 35686542 35687823 - 35752987 35754274 - 35752990 35754277 - 11053263;12477932;17338636;24442440 692094 Q1L6U9 ABBA01064987;AL133410;AMYH02019464;BC071800;BC105274;BE439525;CH471071;DQ012170;NM_001044264 AAY68208;EAW58344;NP_001037729;Q1L6U9 Hs.571601 1678753;2191811 MARC_8221-8222:996688418:1;RH80781 PC-3;PSMP OTTHUMP00000216248;PC3 prostate cancer cell-secreted microprotein;PC3-secreted microprotein;prostate-associated microseminoprotein;secreted microprotein PC-3 APPROVED protein-coding ENSG00000215183 HGNC:29663 612191 REVIEWED 732547 MSN moesin Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement. [provided by RefSeq, Jul 2008] X X X q11.1 65234645 65308924 + 64808257 64961793 + 65588377 65741931 + 1580863;6480464;6907045;8554872 10436021;10480873;10751793;10806479;10847681;11310834;11441066;11706008;11716484;11717582;11784723;12070130;12082081;12111362;12115638;12226091;12360288;12385025;12387735;12477932;12519789;12594175;12665801;12734202;12787041;12850829;14760079;15020681;15039356;15096511;15146197;15149851;15166166;15178693;15252013;15489334;15659383;15772651;15818415;15819698;16009940;16130169;16502470;16889625;16908865;16916647;17110458;17170707;17237445;17349711;17353931;17515952;17594689;18029348;18295815;18781797;18941185;19047065;19066282;19124745;19129194;19152423;19190083;1924289;19255442;19322201;19432821;19460752;19555429;19723803;19738201;19830727;19890007;19965872;20000738;20376899;20429915;20546116;20639865;20679347;20855527;21044950;21139048;21278069;21278261;21282464;21319273;21352885;21486194;21549406;21659656;21837648;21864676;21890473;21906983;21963094;21988832;22031288;22053931;22076435;22132106;22177047;22190034;22251897;22266319;22291017;22433855;22439598;22505724;22586326;22623428;22685202;22797925;22863883;22891241;22939629;23000965;23116763;23221384;23315217;23326330;23420497;23463506;23602568;23703860;23729486;23796515;23862649;23889297;24037528;24065547;24127566;24654937;24788249;24816145;24891603;25015289;7579708;7588875;7628534;7844168;7884872;8188263;8248180;8259662;8537411;8892894;9013673;9213396;9298994;9314537;9330869;9430655;9472040;9516463;9616160;9856983;9918767 4478 P26038;Q6PJT4;V9GZ54;V9HWC0 ABBA01067039;ABBA01067040;ABBA01067041;ABBA01067042;ABBA01067043;ABBA01067044;AK297165;AK308486;AK309986;AL354652;AMYH02039614;AMYH02039615;BC001112;BC011827;BC017293;CH471132;CN386296;EU794636;M69066;NG_012516;NM_002444;XM_005262269;Z98946 AAA36322;AAH01112;AAH11827;AAH17293;ABM83579;ABM86818;ACJ13690;BAH12513;CAB46379;EAX05398;EAX05399;NP_002435;P26038;XP_005262326 Hs.87752 1342196;1666533;1668844;1676384;1701774;1739505;1740207;2140847;2180838;5106110;7185888 D0S17715;DXS1117E;DXS7086;DXS7588;DXS8029;MSN;RH41126;SGC30148;SHGC-60194;WI-9169 HEL70 OTTHUMP00000023438;epididymis luminal protein 70;membrane-organizing extension spike protein APPROVED protein-coding ENSG00000147065 HGNC:7373 02399 309845 REVIEWED 1343506 MSNL2 moesin-like 2 8188263 4480 HGNC:7375 1353422 MSNP1 moesin pseudogene 1 5 5 5 p14.1 25795245 25799108 + 25909416 25913387 + 25909307 25913278 + 8188263 4479 ABBA01066645;AC109469;AC113370;AMYH02011056;NG_003032 1676384;1739505;5106110 D0S17715;MSN;RH41126 MSNL1 APPROVED pseudo HGNC:7374 INFERRED 1347158 MSR1 macrophage scavenger receptor 1 This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008] 8 8 8 p22 14929936 15014828 - 15965387 16050300 - 16107878 16192791 - 1582669;1580863;2306128;2306129;1582314;2306126;2306127;2306130;6480464;7240710;8554872;8699517 14664792;15567863;17389263;17510407;17903305;17945237;9069289 10381284;11785981;12244320;12376530;12471593;12477932;12819208;12839931;12958598;14614006;14695991;14759258;15042613;1519666;15489334;15493872;15556945;15714208;15734964;15824169;16114055;16144911;16287155;16344560;16425212;16598737;16750665;17207965;17237231;17361499;17627168;17709607;17768178;17805225;18398045;18436282;18503826;18566991;18660489;18676680;18922854;19120472;19170196;19261092;19625176;19692168;19715475;19790077;19911804;19913121;19914718;20081102;20086112;20338659;20379614;20384632;20410100;20414830;20485444;20628086;20717903;20802348;21077973;21203986;21280004;21460221;21565611;21596859;21658363;22282357;22429811;22470185;22470186;2251254;22687273;22763563;22878280;23334594;23648122;23717201;23915271;24419414;24498098;24604828;8093617;8391600;8394868;8900177;9422792;9548586 4481 B4DDJ5;E5RFI4;E5RFW8;E5RI91;H0YBY2;P21757 ABBA01021596;AC023396;AF037351;AK293217;AK293409;AMYH02017510;AMYH02017511;AMYH02017512;BC063878;CH471080;D13263;D13264;D13265;D90187;D90188;DA995755;DQ144993;JA885108;NG_012102;NM_002445;NM_138715;NM_138716;S70395 AAC09251;AAH63878;AAZ38715;ADQ31955;BAA14208;BAA14209;BAG56756;BAG56916;CCQ77679;EAW63830;EAW63831;EAW63832;EAW63833;EAW63834;NP_002436;NP_619729;NP_619730;P21757 Hs.147635 1688458;1734054;1744919;1794206;1794208;1794212;1849780;2151505 D8S1193;GDB:580807;PMC310830P18;PMC310830P19;PMC310830P21;RH17755;RH47928;SHGC-12479 CD204;SCARA1;SR-A;SRA;phSR1;phSR2 OTTHUMP00000120042;OTTHUMP00000120049;OTTHUMP00000120050;OTTHUMP00000225174;macrophage acetylated LDL receptor I and II;macrophage scavenger receptor type III;macrophage scavenger receptor types I and II;scavenger receptor class A member 1;scavenger receptor class A, member 1 2293393;2293425;2293451;2301805;2314781;2314791 BW512_H;GLUCO109_H;PRSTS204_H;PRSTS279_H;PRSTS281_H;PRSTS432_H APPROVED protein-coding ENSG00000038945 HGNC:7376 01092 153622;176807;614266 REVIEWED 737220 MSRA methionine sulfoxide reductase A This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 8 8 8 p23.1 9038143 9413201 + 9911830 10286401 + 10054320 10428891 + 1580863;6480464;8554872 10452521;12039877;12477932;12693988;14759519;15199188;15489334;15680232;16162094;16257642;16364291;16480945;17601350;17784942;17943184;18506707;18845237;18977241;19056867;19085252;19237503;19430479;19542914;19557161;19747232;19844733;19913121;20368336;20379614;20421936;20452100;20617525;20628086;20689807;20703240;20724581;20877624;20888813;20937881;21079812;21139048;21674055;21679298;21890473;22438829;22634633;22657383;22688191;22867795;23049088;23244167;23286868;23333304;23415806;23568457;23880405;24250222;24670271;8622914 4482 E5RIA9;E5RJK1;E9PJ70;H0YAN3;Q9UJ68 ABBA01026891;ABBA01026892;ABBA01026893;ABBA01026894;AC023385;AC034111;AC079200;AC112673;AF086925;AF183420;AI261219;AJ242973;AK293488;AK299948;AMYH02017424;AMYH02017425;AMYH02017426;AMYH02017427;AMYH02017428;AY690665;AY958429;AY958430;AY958431;AY958432;BC047552;BC054033;CH471157;CK819753;HB491939;KF458680;NM_001135670;NM_001135671;NM_001199729;NM_012331 AAG09689;AAH54033;AAP97154;AAU11088;AAY17426;AAY17427;AAY17428;AAY17429;AAY17430;AAY17431;BAH11521;BAH13180;CAB59628;CBA34903;EAW65584;EAW65585;NP_001129142;NP_001129143;NP_001186658;NP_036463;Q9UJ68 Hs.490981 1335081;1339985;1690073;1706282;1716829;1778396;1779636;1779664;1779666;1786638;1786878;1793818;2108833;2115264;2136693;2149033;2151649;2157400;2160718;2167884;2170468;2180481;2180700;5106165;7187445 A005E28;D8S1721;D8S2099;D8S542;G09512;G31054;MSRA_8479;PMC291883P1;RH121709;RH12443;RH68910;RH98613;SGC30771;SHGC-147105;SHGC-153612;SHGC-153636;SHGC-153637;SHGC-17264;SHGC-58218;SHGC-80695;SHGC-84425;STS-AA017723;WI-11714;WI-16933 PMSR OTTHUMP00000115600;OTTHUMP00000224855;OTTHUMP00000224856;OTTHUMP00000224858;OTTHUMP00000229541;OTTHUMP00000230073;cytosolic methionine-S-sulfoxide reductase;mitochondrial peptide methionine sulfoxide reductase;peptide Met(O) reductase;peptide met (O) reductase;peptide methionine sulfoxide reductase;peptide-methionine (S)-S-oxide reductase;protein-methionine-S-oxide reductase APPROVED protein-coding ENSG00000175806 HGNC:7377 03152 601250 REVIEWED 1312916 MSRB1 methionine sulfoxide reductase B1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein belongs to the methionine sulfoxide reductase (Msr) protein family which includes repair enzymes that reduce oxidized methionine residues in proteins. The protein encoded by this gene is expressed in a variety of adult and fetal tissues and localizes to the cell nucleus and cytosol. [provided by RefSeq, Mar 2012] 16 16 16 p13.3 2200442 2205502 - 1988234 1993294 - 1938233 1943293 - 1580863;6480464 10567350;10608886;11042152;11157797;11779133;12477932;14699060;15489334;17938273;18081029;20634897;21048031;21103663;22713178;23270945;24342607;8889548 51734 A8MYR2;H3BS64;H3BTT6;Q9NZV6 ABBA01030286;AC005363;AE006640;AF161388;AF166124;AF187272;AK026128;AMYH02031241;BC003127;CF134919;CH471112;NM_016332 AAF21429;AAF28948;AAG17033;AAH03127;AAK61300;EAW85600;EAW85601;NP_057416;Q9NZV6 Hs.655346 1679223;1682343;2109821 RH80593;RH93499;SEPX1_9756 HSPC270;MGC3344;SELR;SELX;SEPX1;SepR OTTHUMP00000159418;methionine sulfoxide reductase;methionine-R-sulfoxide reductase B1;selenoprotein R;selenoprotein X, 1 APPROVED protein-coding ENSG00000198736 HGNC:14133 12095 606216 REVIEWED 6483870 MSRB1P1 methionine sulfoxide reductase B1 pseudogene 1 19 19 19 q13.2 36549144 36549497 - 39745559 39745909 - 39254919 39255269 - 20060832 441849 ABBA01040723;AC011445;AMYH02036087;NG_030284 pseudo HGNC:43985 INFERRED 1345900 MSRB2 methionine sulfoxide reductase B2 ENCODES a protein that exhibits actin binding (ortholog); peptide-methionine (R)-S-oxide reductase activity (ortholog); zinc ion binding (ortholog); INVOLVED IN actin filament polymerization (ortholog); protein repair (ortholog); FOUND IN mitochondrion (ortholog); INTERACTS WITH 1,4-dithiothreitol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 10 10 10 p12 23072080 23098540 + 23384427 23410942 + 23095498 23122013 + 1580863;6480464 10375640;10810093;12220640;12477932;14699060;14759519;14980072;16385451;16480945;17601350;17943184;18424444;18977241;19237503;19322201;19542914;20877624;22145905;22634633;22939629;23251661;8749308 22921 H0YE51;Q9Y3D2 ABBA01034470;AF122004;AF151889;AL139281;AMYH02022444;BC018030;BC066305;BC117471;BC130380;CH471072;EF444983;NM_012228 AAD34126;AAD38899;AAH18030;AAI17472;AAI30381;ABZ92470;ACA05998;ACA05999;EAW86133;EAW86134;EAW86135;EAW86136;NP_036360;Q9Y3D2 Hs.461420 1337997;1696208;1780022;2109529;2125098;2142244;2185157 1434;D10S1660;MSRB_9285;RH44759;SHGC-154269;SHGC-79054;STS-N36938 CBS-1;CBS1;CGI-131;MGC26104;MSRB;PILB OTTHUMP00000019305;methionine-R-sulfoxide reductase B2, mitochondrial;methionine-r-sulfoxide reductase B2 variant 1;methionine-r-sulfoxide reductase B2 variant 3;pilin-like transcription factor protein-coding ENSG00000148450 HGNC:17061 17606 613782 VALIDATED 1351511 MSRB3 methionine sulfoxide reductase B3 The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010] 12 12 12 q14.3 65337946 65526205 + 65672423 65860687 + 65278643 65466907 + 737633;6480464;7240710;8554872;8699517 12477932 12975309;14699060;14702039;15249228;15252450;17207965;19542914;19650862;19788859;20195514;21150874;21185009;22027001;22310715;22405767;22422452;22504421;22832960;23704328;24583268 253827 F5H199;F5H4C9;F5H6G9;F5H7C4;H0YFW5;H7C2B7;Q8IXL7 ABBA01026587;ABBA01026588;ABBA01026589;ABBA01026590;AC025419;AC026124;AC079948;AK094185;AK122602;AK293084;AK299065;AK316365;AL833622;AMYH02026673;AY358229;BC040053;BX500552;BX640871;BX648776;CH471054;DC357690;DQ786269;NG_023441;NM_001031679;NM_001193460;NM_001193461;NM_198080 AAH40053;AAQ88596;ADQ33079;BAF85773;BAG61131;BAH14736;CAE45929;CAI46018;EAW97151;NP_001026849;NP_001180389;NP_001180390;NP_932346;Q8IXL7 Hs.339024 1645115;1650039;1670019;1716443;1727471;1728189;1746263;1746399;1746495;1775545;1858259;2134722;2144977;5014051;5022578;5022651;5024039;5037552 D11S2921;D12S1426;D12S1448;D12S1500;D12S1954;D12S2202;D16S325;D1S1423;D8S2278;D8S2279;G09455;G62993;G63517;G64381;G64398;G64399;RH122228;WI-17915 DFNB74;DKFZp686C1178;FLJ36866 OTTHUMP00000239655;OTTHUMP00000239656;OTTHUMP00000239658;OTTHUMP00000239659;OTTHUMP00000239660;OTTHUMP00000239661;OTTHUMP00000239662;methionine-R-sulfoxide reductase B3;methionine-R-sulfoxide reductase B3, mitochondrial APPROVED protein-coding ENSG00000174099 HGNC:27375 14785 613718;613719 REVIEWED 1343018 MSS Marinesco-Sjogren syndrome ASSOCIATED WITH Spinocerebellar Degenerations (inferred) 7240710 2791656 4483 HGNC:7378 248800 1319740 MSS51 MSS51 mitochondrial translational activator ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN social behavior; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH valproic acid; silver atom (ortholog); silver(0) (ortholog) 10 10 10 q22.2 68468933 68478915 - 75183337 75193319 - 73423579 73433561 - 6480464;8554872 12477932;15146197;16385451;19710419;21531385 118490 F6VAV3;Q4VC12 ABBA01020325;ABBA01020326;AK096884;AK309870;AL353731;AMYH02023334;AMYH02023335;BC094693;BC109255;BC109256;BX500736;BX537678;CH471083;CN395159;CR936824;NM_001024593 AAH94693;AAI09256;AAI09257;BAC04883;CAD97808;EAW54495;NP_001019764;Q4VC12 Hs.631823 1776484;5014051;5016478;5017266;5022200;5022651;5037295;5037552 D11S2921;D8S2278;D8S2279;GDB:434012;L18426;L18506;RH68072;ZMYND17__4955 FLJ39565;ZMYND17 MSS51 mitochondrial translational activator homolog;OTTHUMP00000019816;putative protein MSS51 homolog, mitochondrial;zinc finger MYND domain-containing protein 17;zinc finger, MYND domain containing 17;zinc finger, MYND-type containing 17 APPROVED protein-coding ENSG00000166343 HGNC:21000 15742 614773 VALIDATED 1350588 MSSE multiple self-healing squamous epithelioma ASSOCIATED WITH Keratoacanthoma familial (inferred); Loeys-Dietz Syndrome (inferred) 7240710 9439661 4484 1335750;1341914 D9S197;D9S287 HGNC:7379 132800;609192 736655 MST1 macrophage stimulating 1 (hepatocyte growth factor-like) The protein encoded by this gene contains four kringle domains and a serine protease domain, similar to that found in hepatic growth factor. Despite the presence of the serine protease domain, the encoded protein may not have any proteolytic activity. The receptor for this protein is RON tyrosine kinase, which upon activation stimulates ciliary motility of ciliated epithelial lung cells. This protein is secreted and cleaved to form an alpha chain and a beta chain bridged by disulfide bonds. [provided by RefSeq, Jan 2010] 3 3 3 p21 49686072 49690887 - 49721380 49726196 - 49683947 49689528 - 1580863;6480464;8554872;7240710 10068459;10728827;11274154;11856768;12177064;12477932;12919677;14597639;15764806;16170349;16335952;1655021;17347649;17456594;17554261;17554300;1827141;18438406;18480548;18587394;18700007;19079170;19212654;19221179;19456860;19657358;19760754;19836237;19861958;19915572;19944697;19950692;19956688;20014019;20024904;20171103;20228799;20307617;20513427;20921231;21072187;21081472;21102463;21151127;21212262;21228115;21249150;21297633;21572393;21619683;21723047;21875933;21931648;22087277;22245154;22554193;23011677;23128233;23347832;23386615;23422030;23527007;23737290;23893242;23928732;24141421;24250222;24409221;24872389;2902784;8125298;8393443;8621550;8702870;8889548;9045873 4485 G3XAK1;H7C0F8;P26927;Q53GN8 ABBA01024577;AC099668;AK222893;AK294324;AK296192;AK298396;AK298452;AK309567;AMYH02006756;BC044862;BC048330;BM672747;CH471055;DC315638;L11924;M74178;NG_016454;NM_020998;U28054;U37055;XM_006713166;XM_006713167;XM_006713168;XM_006713169;XR_427269;XR_427270;XR_427271;XR_427272;XR_427273;XR_427274;XR_427275;XR_427276 AAA50165;AAA59872;AAC50471;AAC63092;AAH44862;AAH48330;BAD96613;BAH11736;BAH12279;BAH12774;BAH12793;EAW64999;EAW65000;EAW65001;EAW65002;EAW65003;NP_066278;P26927;XP_006713229;XP_006713230;XP_006713231;XP_006713232 Hs.349110;Hs.512587 1648120;1741309;1741429;1744543;1790319 APEH;GDB:180399;GDB:181206;GDB:512856;WI-16108 D3F15S2;DNF15S2;HGFL;MSP;NF15S2 OTTHUMP00000208927;hepatocyte growth factor-like protein;hepatocyte growth factor-like protein homolog;macrophage stimulatory protein;macrophage-stimulating protein APPROVED protein-coding ENSG00000173531 HGNC:7380 00798 142408;614868 REVIEWED 1345100 MST1L macrophage stimulating 1-like ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; L-ascorbic acid; quercetin 3 1 1 p36.13 18890655 18892921 - 17081129 17090975 - 16754634 16764480 - 1580863;6480464;8554872 10585770;10728827;22951037 11223 Q2TV78 AF083416;AF116647;AL021920;AMYH02000386;AY192149;NM_001271733;U28055 AAC35412;AAP20103;NP_001258662;Q2TV78 Hs.349110;Hs.655432 1685566;1697196;5018973;5105601;5125253;5125255 AL034008;D3S4175;RH102089;RH92673;SHGC-132146 BRF-1;D1F15S1A;MSPL-7;MSPL7;MST1P9;MSTP7;MSTP9 brain rescue factor 1;brain-rescue-factor-1;macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9;macrophage stimulating, pseudogene 7;macrophage stimulating, pseudogene 9;putative macrophage stimulating 1-like protein;putative macrophage-stimulating protein MSTP9 APPROVED protein-coding HGNC:7390 VALIDATED 1350087 MST1P2 macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 INTERACTS WITH cadmium atom 1 1 p36.2 16972069 16976915 + 16645574 16650420 + 6480464 10585770 11209 ABBA01004184;AC246792;AF083410;AF083411;AF083412;AK293358;AK298457;AK311393;AL137798;AW629449;DC362930;NR_027504 BAG56874;BAG60670 Hs.349110 1685566 RH92673 FLJ18435;MSPL-1;MSPL-2;MSPL-3;MSPL1;MSPL2;MSPL3;MSTP1;MSTP2;MSTP3 APPROVED pseudo HGNC:7383 PROVISIONAL 1315099 MST1R macrophage stimulating 1 receptor (c-met-related tyrosine kinase) This gene encodes a cell surface receptor for macrophage-stimulating protein (MSP) with tyrosine kinase activity. The mature form of this protein is a heterodimer of disulfide-linked alpha and beta subunits, generated by proteolytic cleavage of a single-chain precursor. The beta subunit undergoes tyrosine phosphorylation upon stimulation by MSP. This protein is expressed on the ciliated epithelia of the mucociliary transport apparatus of the lung, and together with MSP, thought to be involved in host defense. Alternatively spliced transcript variants encoding different isoforms with different structural and biochemical properties have been described (PMID:8816464). [provided by RefSeq, Oct 2011] 3 3 3 p21.3 49890532 49907401 - 49924435 49941311 - 49887002 49903873 - 1580863;6480464;8554872 10871856;12214279;12419829;12527888;12676986;12766581;12802274;12915129;12919677;14505491;14597639;14982882;15001985;15184888;15342556;15378025;15557181;15764806;15788670;15929040;16103119;16166096;16166746;16740632;17311308;17395888;17456594;17588532;17611409;17616662;18019691;18073207;18165235;18200509;18204077;18209063;18221954;18310076;18593464;18593918;18606710;18620091;18836480;18950514;19040718;19224914;19242504;19307182;19367581;19519771;19581412;19657358;19838218;19913121;19956854;20026054;20103639;20358644;20428780;20434834;20498137;20596668;20628086;20664977;20689759;20800603;21081472;21114864;21212418;21543897;21659546;21723047;21799005;21874262;21875933;21901254;21906983;21963094;22086736;22095683;22515290;22585712;22613539;22848655;22902361;22958871;22974584;22975341;22993024;23128233;23235762;23294341;23483216;23542172;23558571;23597200;23745832;23799848;23811285;24155930;24189591;24388747;7488076;7939629;8062829;8247543;8386824;8816464;8889548;8918464;9045873 4486 B4E058;H7C074;H7C3Z8;J3KQS7;Q04912 ABBA01024568;ABBA01024569;ABBA01024570;AC105935;AK303234;AMYH02006760;AMYH02006761;BP288515;BU542597;CA503122;CH471055;EU826582;EU826583;EU826584;EU826585;HQ908652;JN689381;JN689382;JN983806;KC876868;NG_030322;NM_001244937;NM_002447;X70040;XM_005265170;XR_245136 ACF47618;ACF47619;ACF47620;ACF47621;AEB22138;AEW68340;AEY68264;AEY68265;BAG64320;CAA49634;EAW65036;NP_001231866;NP_002438;Q04912;XP_005265227 Hs.517973 1660013;2137369 RH18128;SHGC-11997 CD136;CDw136;PTK8;RON MSP receptor;MST1R variant RON30;MST1R variant RON62;OTTHUMP00000210451;OTTHUMP00000210452;OTTHUMP00000210454;OTTHUMP00000223157;PTK8 protein tyrosine kinase 8;RON variant 21;RON variant E2E3;c-met-related tyrosine kinase;macrophage-stimulating protein receptor;p185-Ron;soluble RON variant 1;soluble RON variant 2;soluble RON variant 3;soluble RON variant 4 APPROVED protein-coding ENSG00000164078 HGNC:7381 02545 600168 REVIEWED 736334 MSTN myostatin The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. This gene is thought to encode a secreted protein which negatively regulates skeletal muscle growth. [provided by RefSeq, Jul 2008] 2 2 2 q32.2 184515357 184522386 - 190920426 190927455 - 190055700 190062729 - 1601298;1580863;704404;2303558;2303596;2303594;2303552;2303554;2303556;2303544;2303598;2303545;6480464;7240710;8699517 11481237;15215484;15738643;15758361;16807547;16837207;16968467;18578694;18997488;19125275 10362012;10508689;10610713;10844590;11459935;11519824;11555072;12060865;12165013;12175483;12194980;12209887;12477932;12595574;14517293;14623262;15083369;15181048;15489334;15567067;16437538;16464946;16849634;17003236;17186467;17609255;17673556;17703271;17711997;17823296;18175804;18203713;18240972;18284920;18335407;18535106;18563849;18567511;18596030;18801770;18835929;19136503;19147968;19232494;19237423;19277943;19299575;19346981;19422651;19453261;19533653;19591015;19751112;19828686;19918890;20026378;20044471;20161792;20186835;20237496;20301671;20536908;20640547;20648054;20734064;20801187;20884321;20930205;21104587;21139048;21164115;21228768;21273059;21283721;21450574;21463333;21507246;21508334;21605155;21665986;21832049;21900687;21900845;21931616;22052913;22081442;22209717;22324844;22395277;22426697;22476926;22568578;22615949;22621320;22693174;22802085;22818745;22916099;22968486;23291166;23354683;23687104;23829672;23861230;23967261;24145431;24215591;7558031;9139826;9288100;9356471;9843994 2660 O14793;Q53S46 ABBA01062382;AC073120;AF019627;AF104922;AK291524;AMYH02005433;BC074757;BX093210;CH471058;DQ927048;DQ927050;DQ927053;DQ927055;DQ927057;DQ927058;DQ927059;DQ927061;DQ927064;DQ927065;DQ927068;DQ927069;DQ927070;DQ927072;DQ927080;DQ927081;DQ927083;DQ927087;DQ927088;DQ927090;DQ927091;DQ927092;DQ927093;DQ927094;DQ927097;DQ927100;DQ927101;DQ927102;DQ927104;DQ927105;DQ927107;DQ927110;DQ927111;DQ927113;DQ927117;DQ927120;DQ927121;DQ927122;DQ927123;DQ927124;DQ927125;DQ927126;DQ927127;DQ927128;DQ927130;DQ927131;DQ927133;DQ927134;DQ927135;DQ927136;DQ927137;DQ927138;DQ927139;DQ927140;DQ927141;DQ927143;DQ927144;DQ927145;DQ927146;DQ927147;DQ927148;DQ927149;DQ927150;DQ927151;DQ927152;DQ927153;DQ927154;DQ927155;DQ927156;DQ927157;DQ927158;DQ927159;DQ927160;DQ927161;DQ927162;DQ927163;DQ927164;DQ927165;DQ927166;DQ927167;DQ927168;DQ927169;DQ927170;DQ927171;DQ927172;DQ927173;DQ927174;DQ927175;DQ927176;DQ927177;DQ927179;DQ927180;DQ927181;DQ927183;DQ927184;DQ927186;DQ927187;DQ927188;DQ927189;DQ927190;DQ927191;HC889206;NG_009800;NM_005259 AAB86694;AAC96327;AAH74757;AAY24188;ABI48371;ABI48373;ABI48376;ABI48378;ABI48380;ABI48381;ABI48382;ABI48384;ABI48387;ABI48388;ABI48391;ABI48392;ABI48393;ABI48395;ABI48403;ABI48404;ABI48406;ABI48410;ABI48411;ABI48413;ABI48414;ABI48415;ABI48416;ABI48417;ABI48420;ABI48423;ABI48424;ABI48425;ABI48427;ABI48428;ABI48430;ABI48433;ABI48434;ABI48436;ABI48440;ABI48443;ABI48444;ABI48445;ABI48446;ABI48447;ABI48448;ABI48449;ABI48450;ABI48451;ABI48453;ABI48454;ABI48456;ABI48457;ABI48458;ABI48459;ABI48460;ABI48461;ABI48462;ABI48463;ABI48464;ABI48466;ABI48467;ABI48468;ABI48469;ABI48470;ABI48471;ABI48472;ABI48473;ABI48474;ABI48475;ABI48476;ABI48477;ABI48478;ABI48479;ABI48480;ABI48481;ABI48482;ABI48483;ABI48484;ABI48485;ABI48486;ABI48487;ABI48488;ABI48489;ABI48490;ABI48491;ABI48492;ABI48493;ABI48494;ABI48495;ABI48496;ABI48497;ABI48498;ABI48499;ABI48500;ABI48502;ABI48503;ABI48504;ABI48506;ABI48507;ABI48509;ABI48510;ABI48511;ABI48512;ABI48513;ABI48514;ABZ92482;BAF84213;CBM42951;EAX10880;NP_005250;O14793 Hs.41565 2218776;5017777 GDF8;GDF8_672 GDF-8;GDF8;MSLHP OTTHUMP00000163498;growth differentiation factor 8;growth/differentiation factor 8 1643395;1643406 BMD6_H;BW326_H APPROVED protein-coding ENSG00000138379 HGNC:4223 03474 601788;614160 REVIEWED 1602702 MSTO1 misato 1, mitochondrial distribution and morphology regulator INVOLVED IN mitochondrion distribution; mitochondrion organization; FOUND IN cytoplasm; mitochondrial outer membrane; INTERACTS WITH ethyl methanesulfonate; hydrogen peroxide; paracetamol 1 1 1 q22 128653145 128657846 + 155579961 155584758 + 155610170 155614967 + 6480464 11076863;11256614;12477932;14702039;15489336;16344560;16381901;16545939;17349998;21890473;21906983;21963094;21988832;22505724;23000965;23128233;24816145;8125298;9144213 55154 B4DF47;B4DHK3;Q9BUK6;V9GYF2 ABBA01016690;AF111708;AF272833;AK001366;AK056128;AK092950;AK222863;AK290610;AK295146;AK297140;AK309573;AL353807;AMYH02001952;AY334564;BC002535;BC070067;BI911005;BX537684;CH471121;CR749791;CR936872;DA807092;NM_001256532;NM_001256533;NM_018116;NR_046292;NR_046293;NR_046294;NR_046295;XM_006711412;XM_006711413;XM_006711414;XM_006711415;XM_006711416;XM_006711417;XM_006711418;XM_006711419;XM_006711420;XM_006711421;XM_006711422;XM_006711423;XM_006711424;XM_006711425 AAF81794;AAH02535;AAM12424;AAP94730;ACE86865;ACE87553;BAA91651;BAD96583;BAF83299;BAG58165;BAG59641;CAD97810;CAH18652;CAI59784;CAL37881;EAW53038;EAW53039;EAW53040;EAW53041;EAW53042;NP_001243461;NP_001243462;NP_060586;Q9BUK6;XP_006711475;XP_006711476;XP_006711477;XP_006711478;XP_006711479;XP_006711480;XP_006711481;XP_006711482;XP_006711483;XP_006711484;XP_006711485;XP_006711486;XP_006711487;XP_006711488 Hs.656547 1669363;1672034;1686522;1851929;2132041;2168071 Cda1fe10;G34868;RH12479;RH16489;SHGC-34058;WI-16155 DKFZp686B1757;DKFZp686I01261;FLJ10504;LST005;MST;RP11-29H23.3 OTTHUMP00000015899;OTTHUMP00000015900;misato homolog 1 APPROVED protein-coding ENSG00000125459 HGNC:29678 16904 VALIDATED 1625804 MSTO2P misato family member 2, pseudogene 1 1 1 q22 128788550 128794311 + 155715559 155720479 + 155745768 155750688 + 12477932;16545939;16710414 100129405 ABBA01016687;AK293928;AL162734;AMYH02001952;BC099909;BF508805;CX784525;DC387604;NR_024117 BAG57308 Hs.656361;Hs.656547;Hs.720829 1669363;1672034;1686522;1851929;2132041 Cda1fe10;G34868;RH12479;RH16489;WI-16155 MSTO2 APPROVED pseudo HGNC:26329 VALIDATED 1348338 MSTP1 macrophage stimulating, pseudogene 1 p36.2 10585770 11210 AF083410;NG_001241 MSPL-1;MSPL1 pseudo HGNC:7382 1353718 MSTP3 macrophage stimulating, pseudogene 3 p36.2 10585770 11208 AF083412;NG_001239 MSPL-3;MSPL3 pseudo HGNC:7384 1343444 MSTP4 macrophage stimulating, pseudogene 4 p36.2 10585770 11207 AF083413;NG_001238 MSPL-4;MSPL4 pseudo HGNC:7385 1343322 MSTP5 macrophage stimulating, pseudogene 5 p36.2 10585770 11206 AF083414;NG_001237 MSPL-5;MSPL5 pseudo HGNC:7386 1345770 MSTP6 macrophage stimulating, pseudogene 6 p36.2 10585770 11205 AF083415;NG_001236 MSPL-6;MSPL6 pseudo HGNC:7387 1348559 MSTP7 macrophage stimulating, pseudogene 7 p36.2 10585770 11204 AF083416;AL021920;NG_001235 MSPL-7;MSPL7 pseudo HGNC:7388 1351890 MSTP8 macrophage stimulating, pseudogene 8 p36.2 10585770 11203 AF083417;NG_001234 MSPL-8;MSPL8 pseudo HGNC:7389 731562 MSX1 msh homeobox 1 This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008] 4 4 4 p16.2 4758413 4762671 + 4861392 4865663 + 4859665 4863936 + 1600484;1580863;5132609;5132608;5132606;6480464;7240710;8554872;8699517 12807959;16451220;18222913;8696335 10215616;10529415;10742093;10862767;11115394;11332647;11369996;11384957;11390985;11754469;12097313;12477932;12490878;12651933;12652527;12733956;1284527;12974677;15029481;15264286;15381719;15489334;15705871;16002402;16327884;16344560;16600910;16651263;16678795;1685479;16868654;16932841;17326252;17557248;17559452;17693062;18070437;18177186;18374898;18379900;18698632;18705505;18788550;18932005;19346736;19389651;19453261;19475667;1969845;1973146;19776500;19816326;19922584;20004191;20060342;20087401;20211142;20450679;20506112;20538960;20544801;20572854;20602873;20620318;20634891;20635363;20638926;20660504;20672350;20942943;21111400;21177256;21366807;21387540;21448236;21626677;21689018;21717107;21740177;21866112;21906983;21972896;21988832;22297032;22455953;22591773;22813217;23382810;23580168;23708191;23718693;23731659;23921572;24103583;24222224;24554542;2565810;8700832;9111364;9369446;9697309 4487 P28360 ABBA01008253;AC092437;AF426432;AK290636;AMYH02008649;AU117561;BC021285;BC067353;BU624994;CH471131;DB356637;M76731;M76732;M97676;NG_008121;NM_002448 AAA52683;AAA58665;AAH21285;AAH67353;AAL17870;BAF83325;EAW82420;NP_002439;P28360 Hs.424414 1656923;1686847;1725673;2135085 D4S3135;G33875;G62104;SHGC4-464 ECTD3;HOX7;HYD1;STHAG1 OTTHUMP00000115387;homeo box, msh-like 1;homeobox 7;homeobox protein Hox-7;homeobox protein MSX-1;msh homeo box 1;msh homeobox 1-like protein;msh homeobox homolog 1 APPROVED protein-coding ENSG00000163132 HGNC:7391 00866 106600;142983;189500;608874 REVIEWED 735997 MSX2 msh homeobox 2 This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008] 5 5 5 q35.2 170185579 170191910 + 174151575 174157902 + 174724077 174730899 + 1600491;1600492;1580863;5132616;5132608;6480464;7240710;8554872;8699517 10742103;16451220;18270471;8968743 10451362;10767351;10831122;11084035;11683913;11763998;11959851;12145306;12145307;12145310;12407713;12477932;12750290;12925529;14571277;14679154;15060165;15214020;15489334;16327884;16425399;16467978;16540516;16642368;17693062;17955513;18000908;18029348;18056036;18187185;18299954;18349132;18786927;19147956;19240061;19407244;19453261;19590514;19835636;20004646;20107842;20211142;20301307;20506112;20538960;20572854;20620318;20634891;20672350;20682066;21362336;21465479;21471203;21498730;21499300;21512281;21730974;21906983;22332551;22633971;22717651;22730815;23275563;23949913;24549638;7687426;7726844;7897272;8101453;8106171;8668339;8786091;9073066;9111364;9256341;9265625;9373945;9522127 4488 D6RIS4;P35548 ABBA01044006;AC117531;AL552909;AMYH02012795;BC015509;BT009814;CH471062;CS406127;D14970;D26145;D31771;D89377;L22498;L22499;NG_008124;NM_002449;S75308;S75361;W38629;X69295;XM_006714868 AAB33867;AAB42178;AAD14169;AAH15509;AAP88816;ABM82526;ABM85721;BAA03611;BAA06549;BAA13949;CAA49156;CAL40519;EAW61381;EAW61382;NP_002440;P35548;XP_006714931 Hs.89404 1724917;1743113;1792830;1796366;2176419;5024667;5121465 GDB:266598;MSX2_1676;PMC164857P2;RH119225;RH79930;SHGC-11995;STS-X69295 CRS2;FPP;HOX8;MSH;PFM;PFM1 OTTHUMP00000161115;homeobox protein Hox-8;homeobox protein MSX-2;msh homeo box 2;msh homeo box homolog 2 (drosophila);msh homeobox homolog 2 APPROVED protein-coding ENSG00000120149 HGNC:7392 00421 123101;168500;168550;604757 REVIEWED 1602108 MSX2P1 msh homeobox 2 pseudogene 1 INTERACTS WITH all-trans-retinoic acid; paracetamol; silicon dioxide 17 17 17 q22 52696099 52698260 + 56234320 56236481 + 58156959 58159120 + 6480464 7518789 55545 Q14561 ABBA01041327;AC005962;AMYH02033685;NR_002307;X74862 CAA52855 Hs.381329 1792830 PMC164857P2 HPX5;HSHPX5;MSX2P pseudo HGNC:24976 PROVISIONAL 1350040 MT-ATP6 mitochondrially encoded ATP synthase 6 ENCODES a protein that exhibits ATPase activity; INVOLVED IN ATP catabolic process; ASSOCIATED WITH Ataxia; Lupus Erythematosus, Systemic; Maternally Inherited Leigh Syndrome; FOUND IN extracellular vesicular exosome; mitochondrial proton-transporting ATP synthase complex; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one 5490262;5490270;5490292;5508187;5490266;5490263;5490257;5490259;5490293;5490291;5490294;6480464;8554872 12618962;14598233;15709156;17568559;17619138;18461509;18708297;19026397;19626676;20450733;20454697 11130070;11925565;12133827;12915481;14499622;14697245;14748908;15228605;15931342;15965056;16060290;16217706;16604388;16611712;16751614;17121862;17300808;17342424;18055910;18409190;18481423;19050702;19066432;19077432 4508 P00846;Q0ZFE3 AF347015 AAK17888;NP_536848 MTATP6 protein-coding HGNC:7414 516060 1350980 MT-CO3 mitochondrially encoded cytochrome c oxidase III ENCODES a protein that exhibits cytochrome-c oxidase activity (inferred); INVOLVED IN respiratory chain complex IV assembly; ASSOCIATED WITH MELAS Syndrome; FOUND IN respiratory chain complex IV; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2-hydroxy-17beta-estradiol 5491184;6480464;8554872;8699517 18587274 11130070;12059041;12915481;16288875;16604388;19050702 4514 P00414;Q7GIM7 AF347015 AAK17889;NP_536849 MTCO3 protein-coding HGNC:7422 516050 1344890 MT-CYB mitochondrially encoded cytochrome b ENCODES a protein that exhibits electron carrier activity (inferred); metal ion binding (inferred); INVOLVED IN cellular metabolic process (inferred); respiratory electron transport chain (inferred); small molecule metabolic process (inferred); ASSOCIATED WITH Burns; Ovarian Neoplasms; Urinary Bladder Neoplasms; FOUND IN mitochondrion; INTERACTS WITH atrazine; ethidium; MeIQx 2298953;2298962;2298976;2298954;2298955;2298956;2298979;2298978;2298967;2298972;2298983;1578536;6480464;8554872;8699517 11507041;15126286;15698621;18245469;18481000;2836123;3779466;5954822;6128308;6215275;7588317;7692737 11130070;12031626;12391595;12686403;14735157;16008558;17015183;18481423;18709563;18796602;19050702 4519 P00156;Q0ZFD6 AF347015 AAK17895;NP_536855 MTCYB protein-coding HGNC:7427 516020 8663429 MT-LIPCAR mitochondrially encoded long non-coding cardiac associated RNA 24663402 103504742 JA760602 uc022bqs.1 LIPCAR ncrna HGNC:50279 1343728 MT-ND3 mitochondrially encoded NADH dehydrogenase 3 INVOLVED IN cellular metabolic process (inferred); respiratory electron transport chain (inferred); small molecule metabolic process (inferred); ASSOCIATED WITH Leigh Disease; Mitochondrial encephalopathy; Optic Atrophy, Hereditary, Leber; FOUND IN mitochondrial respiratory chain complex I; INTERACTS WITH atrazine; bis(2-chloroethyl) sulfide; copper(2+) sulfate 2302314;5491206;5507824;5687693;5687694;5687691;5687692;5508703;6480464;8554872 14705112;15975594;19458970;20438613;20480544;21291942;21484267;7763274 11130070;11607774;14604458;14764913;15211636;15827561;15931342;16023078;16140977;17066297;17081685;17152068;17413873;17429907;17620498;17701054;17717444;18082471;18262047;18518927;18679013;18709563;19050702;19077432;19140314 4537 P03897;Q7GXZ5 AF347015 AAK17890;NP_536850 MTND3 protein-coding HGNC:7458 516002 737231 MT1A metallothionein 1A ENCODES a protein that exhibits zinc ion binding (ortholog); INVOLVED IN cellular response to cadmium ion; cellular response to zinc ion; negative regulation of growth (ortholog); ASSOCIATED WITH Acute-Phase Reaction (ortholog); Amyotrophic Lateral Sclerosis (ortholog); Cerebral Hemorrhage (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog); perinuclear region of cytoplasm (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 16 16 16 q13 41170031 41171454 + 56672578 56673999 + 56638666 56640087 + 1580863;6480464;6484135;6484130;6484136;6483854;2306905;6484112 10535526;16034371;16179515;16226777;19619133;8110467 10099782;10574972;10754528;10774930;10884303;11168427;11284736;11939525;12361735;12477932;12539042;12970870;14528913;15489334;15812196;16087360;16107899;16442532;16827180;16955215;17008879;17111383;17373731;17388808;18208603;18249147;18316168;18349110;18429853;18533113;18601746;19359654;19515364;19529947;19962295;20038220;20634891;20812968;21103883;21798283;22090273;22939629;22995156;23000965;2303255;23042264;2304897;23429061;23501100;23506369;23763497;23947958;24140052;3856101;4062903;6089206;6327055;7140998;7543551;9566988;9614853 4489 P04731;Q8TE66 ABBA01025249;AC026461;AF348995;AMYH02032091;AY028617;BC029475;HI573922;K01383;NM_005946 AAA59586;AAH29475;AAK26162;AAO32955;ABM83485;ABM86699;CBX47450;NP_005937;P04731 Hs.655199 5016306 D16S3240 MGC32848;MT-1A;MT-IA;MT1;MT1S;MTC metallothionein;metallothionein 1A (functional);metallothionein 1S;metallothionein-1A;metallothionein-IA protein-coding ENSG00000205362 HGNC:7393 07035 156350 VALIDATED 1352993 MT1B metallothionein 1B ENCODES a protein that exhibits zinc ion binding (ortholog); INVOLVED IN cellular response to zinc ion; negative regulation of growth (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog); perinuclear region of cytoplasm (ortholog); INTERACTS WITH 17beta-estradiol; aflatoxin B1; arsenous acid 16 16 16 q13 41183263 41184568 + 56685811 56687116 + 56651899 56653204 + 1580863;6480464 11168427;12477932;12539042;15489334;15747776;17244347;22780124;2286373;3785191;6089206 4490 H3BR34;P07438 ABBA01025249;AC026461;AF349000;AF350250;AMYH02032091;AY168638;BC069421;BC137478;BC137479;CH471092;M13484;M13485;NM_005947 AAA36331;AAH69421;AAI37479;AAI37480;AAN86984;AAO32960;AAO49186;ACE86819;ACE87505;EAW82880;NP_005938;P07438 Hs.656629 1792828;2137346;5016306;5492619;5493001 D16S3240;PMC164851P1;STS-M13485;UniSTS:481818;UniSTS:483624 MT-1B;MT-IB;MT1;MT1Q;MTP OTTHUMP00000164378;metallothionein 1B (functional);metallothionein 1Q;metallothionein-1B;metallothionein-IB protein-coding ENSG00000169688 HGNC:7394 11826 156349 PROVISIONAL 1345275 MT1CP metallothionein 1C, pseudogene 16 16 16 q12.2 41179053 41180877 + 56681601 56683425 + 56647689 56649513 + 2286373;3785191;6089206;6327055 441771 ABBA01025249;AC026461;AMYH02032091;NG_005880 5113563 RH91401 APPROVED pseudo HGNC:7395 INFERRED 1342688 MT1DP metallothionein 1D, pseudogene (functional) ENCODES a protein that exhibits metal ion binding (inferred) 16 16 16 q13 41175052 41176306 + 56677599 56678853 + 56643687 56644941 + 11329013;12477932;21906983;2286373;25261601;3785191;3856101;6089206;6327055 326343 A1L3X4 ABBA01025249;AC026461;AF348999;AMYH02032091;BC130315;BC130317;BG181336;CH471092;NR_003658;NR_027781 A1L3X4;AAO32959;EAW82877;EAW82878 Hs.679600 MTM APPROVED pseudo HGNC:7396 17610 VALIDATED 1351881 MT1E metallothionein 1E ENCODES a protein that exhibits zinc ion binding (ortholog); INVOLVED IN cellular response to cadmium ion; cellular response to zinc ion; negative regulation of growth (ortholog); ASSOCIATED WITH Encephalomyelitis, Autoimmune, Experimental (ortholog); FOUND IN cytoplasm; nucleus; perinuclear region of cytoplasm (ortholog); INTERACTS WITH (+)-catechin; (S)-nicotine; 1-methylphenanthrene 16 16 16 q13 41157045 41158484 + 56659557 56661024 + 56625654 56627112 + 1580863;6480464;6484112 19619133 10774930;11053642;11133866;11168427;11693492;12477932;12539042;12556398;14555400;15489334;15747776;16827180;17207965;17244347;18349110;18724390;19420986;20551211;20848733;21358552;22843066;2286373;23000965;2581970;3856101;6089206;6095291;7932184;8119276;8619255 4493 H3BU80;P04732 ABBA01025249;AC026461;AF495759;AMYH02032090;BC009699;BC062734;BC131609;CH471092;M10350;M10942;NM_175617;S68949;XM_005255956 AAA59587;AAB30082;AAH09699;AAH62734;AAI31610;AAM15968;ADQ33219;EAW82872;EAW82873;EAW82874;NP_783316;P04732;XP_005256013 Hs.744893 5016306 D16S3240 MT-1E;MT-IE;MT1;MTD OTTHUMP00000163971;metallothionein 1E (functional);metallothionein D;metallothionein-1E;metallothionein-IE protein-coding HGNC:7397 01126 156351 VALIDATED 1349010 MT1F metallothionein 1F ENCODES a protein that exhibits zinc ion binding (ortholog); INVOLVED IN cellular response to cadmium ion; cellular response to zinc ion (ortholog); negative regulation of growth (ortholog); FOUND IN cytoplasm; nucleus; perinuclear region of cytoplasm (ortholog); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl 16 16 16 q13 41189300 41190660 + 56691855 56693215 + 56657943 56659303 + 1580863;6480464 10774930;11168427;11291768;11693492;12477932;12539042;15369632;15489334;15862967;16827180;18391951;19251948;20812968;21128001;21409206;21820154;22426038;22780124;2286373;23000965;23064051;23332881;23536959;2444457;2581970;3023827;3403543;6089206;6095291;7762008;8619255;9831543 4494 H3BRY8;P04733 ABBA01025249;AC026461;AMYH02032091;BC029453;BM919862;BQ939879;CH471092;CS185532;HB877768;HC935177;M10351;M10943;M13003;NM_001301272;NM_005949;W78077 AAA36213;AAA59588;AAH29453;ABM84012;ABM87356;ABM87377;CAJ42713;CBF63211;CBU88087;EAW82881;NP_001288201;NP_005940;P04733 Hs.513626 1792828;2126018;5016306 D16S3240;PMC164851P1;RH78925 MGC32732;MT-1F;MT-IF;MT1 metallothionein 1F (functional);metallothionein-1F;metallothionein-IF protein-coding HGNC:7398 01127 156352 VALIDATED 1345638 MT1G metallothionein 1G ENCODES a protein that exhibits zinc ion binding; INVOLVED IN cellular response to cadmium ion; cellular response to copper ion; cellular response to vascular endothelial growth factor stimulus; FOUND IN cytoplasm; nucleus; perinuclear region of cytoplasm; INTERACTS WITH 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine 16 16 16 q13 41198100 41199424 - 56700653 56701977 - 56666741 56668065 - 1580863;6480464 11168427;12477932;12539042;12640681;12646258;12970870;15489334;15735762;15747776;15862967;16827180;18332874;18639284;19137073;19330122;19491193;19506903;19639168;20032811;20551211;20812968;22780124;2286373;23000965;23902976;24098937;2444457;3023827;3403543;6089206;7559655;8119276 4495 H3BSF1;H3BSS0;P13640 ABBA01025249;AC026461;AMYH02032091;BC005311;BC020757;BC035287;BM817643;CD175975;CH471092;J03910;K03473;NM_001301267;NM_005950;S68954 AAA59873;AAB30083;AAH20757;ABM92157;ABW03278;EAW82882;EAW82883;NP_001288196;NP_005941;P13640 Hs.433391 1669045;1682491;1852027;5016306 D16S3240;RH16366;RH75829;SHGC-35166 MGC12386;MT-1G;MT-1K;MT-IG;MT1;MT1K OTTHUMP00000164375;OTTHUMP00000164376;metallothionein 1K;metallothionein-1G;metallothionein-1K;metallothionein-IG protein-coding ENSG00000125144 HGNC:7399 11827 156353 VALIDATED 1343880 MT1H metallothionein 1H ENCODES a protein that exhibits zinc ion binding (ortholog); INVOLVED IN cellular response to cadmium ion; cellular response to zinc ion; negative regulation of growth (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog); perinuclear region of cytoplasm (ortholog); INTERACTS WITH (-)-demecolcine; 1,4-phenylenediamine; 17beta-estradiol 16 16 16 q13 41201173 41202488 + 56703726 56705041 + 56669814 56671129 + 1580863;6480464 10774930;11053642;11093034;11168427;12081484;12477932;12539042;12646258;12970870;1425708;14668352;15489334;15747776;16827180;20551211;22780124;2286373;23000965;8049263;8119276;8619255 4496 H3BTC4;P80294 ABBA01025249;AC026461;AMYH02032091;BC008408;BC059780;BC146930;BC146934;BT007171;CH471092;NM_005951;S68948;X64177;X64834 AAB30081;AAH08408;AAH59780;AAI46931;AAI46935;AAP35835;ABM84013;ABM87358;CAA45516;CAA46046;EAW82884;NP_005942;P80294 Hs.438462 2138409;5016306 D16S3240;SHGC-36986 MGC70702;MT-0;MT-1H;MT-IH;MT1 OTTHUMP00000164384;metallothionein-0;metallothionein-1H;metallothionein-IH protein-coding ENSG00000205358 HGNC:7400 01128 156354 VALIDATED 1604411 MT1HL1 metallothionein 1H-like 1 This gene is a retrotransposed gene, compared to MT1H (GeneID:4496). This retrogene is transcribed. It retains a full-length CDS, and is assumed to be translated. Compared to the MT1H product, this protein product differs at three internal amino acids, two of which are at metal-binding sites. [provided by RefSeq, Mar 2013] 1 1 1 q43 210416664 210417060 - 237167403 237167718 - 237004103 237004418 - 6480464 12477932 645745 P0DM35 ABBA01033177;AF333388;AL359259;AMYH02002975;BC133030;BC133032;NM_001276687 AAK18278;NP_001263616;P0DM35 Hs.632513 1682491;2138409 RH75829;SHGC-36986 MT1P2 MT-1H-like protein;metallothionein 1H-like protein;metallothionein 1H-like protein 1 APPROVED protein-coding ENSG00000244020 HGNC:31864 VALIDATED 1352540 MT1IP metallothionein 1I, pseudogene INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; cytarabine 16 16 16 q13 41207017 41209022 + 56709649 56711653 + 56676116 56677877 + 6480464 12477932;2286373;6089206;8049263 644314 Q86YX3 ABBA01025250;AC026461;AF348997;AMYH02032091;BC144606;BC144614;BC171791;NR_003669;NR_104045;NR_104046 AAI71791;AAO32957 Hs.434199 MT1;MT1I;MTE APPROVED pseudo HGNC:7401 156355 VALIDATED 1350386 MT1JP metallothionein 1J, pseudogene INTERACTS WITH arsenous acid; cadmium atom; diarsenic trioxide 16 16 16 q13 41166689 41168450 + 56669651 56670998 + 56635739 56637086 + 1580863;6480464 12477932;2286373;2581970;8049263 4498 Q86YX6 ABBA01025249;AC026461;AF348994;AF350249;AMYH02032091;BC103839;M11399;M11400;M11401;NR_036677 AAO32954 Hs.736648 5015984 UniSTS:484175 MT1;MT1J;MT1NP;MTB metallothionein 1j APPROVED pseudo ENSG00000255986 HGNC:7402 11758 156356 VALIDATED 1345185 MT1L metallothionein 1L (gene/pseudogene) ENCODES a protein that exhibits zinc ion binding (ortholog); INVOLVED IN cellular response to zinc ion; negative regulation of growth (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog); perinuclear region of cytoplasm (ortholog); INTERACTS WITH 17beta-estradiol; 4-phenylbutyric acid; aflatoxin B1 16 16 16 q13 41148835 41150192 + 56651373 56652730 + 56617461 56618818 + 1580863;6480464 12477932;15747776;16395595;2286373;8049263;8766831;9074634 4500 Q86YX2;Q93083 ABBA01025249;AC026461;AJ011772;AMYH02032089;BC070351;BG747999;NR_001447;X97261 CAA65916 Hs.647358 5125371 RH70949 MT1;MT1R;MTF metallothionein 1l pseudo ENSG00000260549 HGNC:7404 156358 VALIDATED 1605723 MT1M metallothionein 1M This gene encodes a member of the metallothionein superfamily, type 1 family. Metallothioneins have a high content of cysteine residues that bind various heavy metals. These genes are transcriptionally regulated by both heavy metals and glucocorticoids. [provided by RefSeq, Oct 2011] 16 16 16 q13 41163986 41165350 + 56666534 56667898 + 56632622 56633986 + 6480464 10575295;10774930;12477932;12539042;15489334;17244347;21988832;2286373;22971577;23398456;8049263 4499 H3BUC6;Q8N339 ABBA01025249;AC026461;AF136177;AF348671;AF479613;AMYH02032091;BC028280;BC103841;BM918307;CH471092;NG_030326;NM_176870 AAH28280;AAI03842;AAL83902;AAL85413;AAP97267;ABM85681;EAW82875;EAW82876;NP_789846;Q8N339 Hs.647370 1335721;1739455;5015984 D16S2938;D16S3071;UniSTS:484175 MGC118949;MGC40498;MT-1M;MT-IM;MT1;MT1K metallothionein 1K;metallothionein 1Y;metallothionein-1M;metallothionein-IM APPROVED protein-coding HGNC:14296 01129 156357 REVIEWED 1346190 MT1NP metallothionein 1N, pseudogene 81837 HGNC:14924 1342869 MT1P1 metallothionein 1 pseudogene 1 9 9 9 q22.32 68616442 68616840 - 98175399 98175797 - 95413117 95413515 - 493987 ABBA01043620;AL161729;AMYH02021272;NG_005527 bA435O5.3 pseudo HGNC:23681 INFERRED 1353097 MT1P3 metallothionein 1 pseudogene 3 INTERACTS WITH cytarabine 20 20 20 q11.2 30554664 30554840 + 33805812 33805988 + 35218009 35218185 + 6480464 11780052;12477932;15489334;6089206;6719135 140851 ABBA01019167;AL121753;AMYH02036994;BC103840;BC133653;NG_005652 1792828;5015984 PMC164851P1;UniSTS:484175 C20orf127;MGC118948;MTL4;dJ614O4.6 chromosome 20 open reading frame 127 pseudo HGNC:16120 16639 INFERRED 1351340 MT1Q metallothionein 1Q 81836 HGNC:14925 1352167 MT1S metallothionein 1S 81835 AY028617 HGNC:14961 1349525 MT1X metallothionein 1X ENCODES a protein that exhibits zinc ion binding (ortholog); INVOLVED IN cellular response to cadmium ion; cellular response to erythropoietin; cellular response to zinc ion; FOUND IN cytoplasm; nucleus; perinuclear region of cytoplasm (ortholog); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; (E)-cinnamyl alcohol 16 16 16 q13 41213751 41215476 + 56716382 56718108 + 56682470 56684196 + 1580863;6480464 10575295;10754528;10774930;11076863;11168427;11693492;12477932;12539042;14718574;15489334;15489336;16381901;16827180;18854154;19322201;19817957;19881214;20551211;20812968;21044950;21103663;22108904;22780124;2286373;23000965;23251525;8049263;8119276;8619255;9074634;9831543 4501 P80297;U3KQD7 ABBA01025250;AC026461;AMYH02032091;BC018190;BC029916;BC032131;BC032338;BC053882;CD101947;CH471092;CS185582;NM_005952;S68956;X65607;X76717 AAB30084;AAH18190;AAH32131;AAH32338;ABM84626;ABM92155;CAA46557;CAA54136;CAJ42763;CAL37952;EAW82885;EAW82886;NP_005943;P80297 Hs.374950 1684544;2118913;5020782 RH47222;RH80871;SHGC-36987 MT-1X;MT-1l;MT-IX;MT1 OTTHUMP00000164381;metallothionein-1X;metallothionein-IX protein-coding ENSG00000187193 HGNC:7405 01130 156359 VALIDATED 1342574 MT1XP1 metallothionein 1X pseudogene 1 1 1 1 p36.13 15047600 15047785 - 16567711 16567893 - 16241216 16241398 - 17619138 645652 ABBA01004678;AL109627;AMYH02000379;NG_030191 1684544;1693086;1699364;1701118;1707924;1769659 AL034273;RH103269;RH104187;RH80871;SHGC-64091;SHGC-82214 MTL1 APPROVED pseudo HGNC:7442 INFERRED 1352146 MT2A metallothionein 2A ENCODES a protein that exhibits drug binding; zinc ion binding; INVOLVED IN cellular response to drug; cellular response to erythropoietin; cellular response to interleukin-3; ASSOCIATED WITH Carotid Stenosis; Diabetic Neuropathies; Inflammation; FOUND IN cytoplasm (ortholog); nucleus (ortholog); perinuclear region of cytoplasm (ortholog); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 1,4-phenylenediamine 16 16 16 q13 41139964 41140895 + 56642478 56643409 + 56608566 56609497 + 1580863;6480464;6483847;6483812;6483854;6483842;6483853;6483850;6483843;6483852;6480540;6482832;6483848;6483815;6483844;6484136;6483819;6484112;6483833;2306905;6484135 10535526;12122050;15592854;15650329;16034371;16226777;16518702;17215068;17606507;17622311;18000159;18349110;18992145;19619133;20357188;22100509;22253198;22363575;8110467 10567918;10716985;10754528;10766190;11168427;12153718;12192109;12477932;12539042;12646258;12714254;12970870;1339282;14530512;14550308;15041247;15489334;15541360;15747776;15862967;1593628;16087360;16099106;16166738;16215939;16243847;1633872;16341674;16402917;16501887;16546755;16916647;16927099;17224279;17244347;17914565;18208603;18601746;18854154;18996371;19062161;19097988;19433272;19515364;19536566;19572214;19664597;19881214;19913121;20038220;20127519;20303360;20628086;20646067;20711450;20711930;20812968;21187089;21277639;21328412;21767559;21868554;21988832;22005883;22090273;22248277;22824183;22990118;23000965;23028585;23042264;23053628;23064051;23148893;23381845;23455924;23466427;23553990;23620539;23870553;2388267;23947958;23986211;23994556;24157868;2780570;3821726;6323998;6719135;6896577;7133118;7821789;8766831;913597 4502 H3BSP9;P02795 ABBA01025248;AC026461;AMYH02032088;BC007034;BC070289;BM746626;BT007315;CH471092;D28442;DQ370420;HI574296;J00271;M15244;M26637;NM_005953;S52379;V00594;X00504;X97260 AAA59583;AAA59584;AAB24908;AAH07034;AAH70289;AAP35979;ABC79300;ACE86465;ACE87146;BAA05808;CAA23841;CAA25196;CAA65915;CBX47637;EAW82869;EAW82870;NP_005944;P02795 Hs.534330 1684718;1739457 D16S2939;RH75825 MT-2;MT-II;MT2 OTTHUMP00000164382;metallothionein-2;metallothionein-2A;metallothionein-II protein-coding HGNC:7406 08863 156360 VALIDATED 1349146 MT2P1 metallothionein 2 pseudogene 1 4 4 4 q13.2 66701941 66702355 + 69241969 69242383 + 68376251 68376665 + 15231747;7133118 4503 ABBA01022910;AC074378;AC140484;AC247056;J00272;NG_001158 1742199 GDB:193644 APPROVED pseudo HGNC:7407 INFERRED 730879 MT3 metallothionein 3 ENCODES a protein that exhibits cadmium ion binding; copper ion binding; cysteine-type endopeptidase inhibitor activity involved in apoptotic process; INVOLVED IN activation of protein kinase B activity; cadmium ion homeostasis; cellular response to cadmium ion; ASSOCIATED WITH Alzheimer Disease; Amyotrophic Lateral Sclerosis; Cadmium Poisoning; FOUND IN cytoplasm; inclusion body; intracellular; INTERACTS WITH (+)-catechin; 5-aza-2'-deoxycytidine; 7,8-dihydro-8-oxoguanine 16 16 16 q13 41120754 41122487 + 56623267 56625000 + 56589355 56591088 + 1580863;6480619;6480534;6480540;6480475;6480620;6480495;6480628;6480494;6480486;6480529;2289373;6480625;6480464;6480623;6480485;6480520;6480627;6480516;6484112 12388585;12417341;1464312;16314047;16382788;16387743;16444595;16612977;17097207;18992145;19619132;19619133;19635467;19799968;20039155;20371971;21726645;7953645 10355541;10517878;11226237;11849386;11994011;12058024;12067712;12072966;12111700;12187490;12383939;12477932;12538345;12539042;12763630;15129022;15190073;15489334;16036436;16087360;1631128;16336778;16351731;16546755;16601975;16712791;16945328;17712581;18029348;18157556;18182399;18206644;18208603;18295594;18533104;18554677;1873033;18757100;18782281;19425569;19490120;19536566;19578815;19881214;20646067;2071148;20974010;21044950;21818286;22615124;23086305;23482768;23728617;23794209;24222235;24859040;7677777;8039715;8751715;9655243 4504 H3BPK2;H3BQX6;H3BTG5;P25713 ABBA01025247;AC026461;AMYH02032088;BC013081;BC035624;BC047694;BI752092;BI820409;BT007030;CB155600;CH471092;D13365;DQ297144;M93311;NM_005954;S72043;X89604 AAA36214;AAB31396;AAH13081;AAP35677;ABB84467;ABM82678;ABM85859;CAA61763;EAW82866;EAW82867;EAW82868;NP_005945;P25713 Hs.73133 1789308 G67938 GIF;GIFB;GRIF;MT-3;MT-III;ZnMT3 OTTHUMP00000164383;growth inhibitory factor;metallothionein 3 (growth inhibitory factor (neurotrophic));metallothionein-3;metallothionein-III protein-coding ENSG00000087250 HGNC:7408 00752 139255 VALIDATED 1343695 MT4 metallothionein 4 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN cellular metal ion homeostasis (inferred); INTERACTS WITH mercury atom; mercury(0); pinosylvin 16 16 16 q13 41096796 41100689 + 56598961 56602869 + 56565049 56568957 + 1580863;6480464 12477932;12539042;15489334;19515364;19921116;20634891;8003488 84560 P47944 ABBA01025247;AC026461;AMYH02032088;BC113442;BC113444;CH471092;NM_032935;U07807 AAA20232;AAI13443;AAI13445;ADR82778;EAW82865;NP_116324;P47944 Hs.567624 2127907 STS-U07807 MT-4;MT-IV;MTIV metallothionein IV;metallothionein-4;metallothionein-IV protein-coding ENSG00000102891 HGNC:18705 12092 606206 PROVISIONAL 1344281 MT7SDNA mitochondrially encoded 7S DNA 4505 HGNC:7409 731516 MTA1 metastasis associated 1 This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 14 14 14 q32.3 85954132 85985842 + 105886186 105937066 + 105419849 105470725 + 729186;728998;1580863;6480464;9585661 24880148;7607577;8083195 10444591;10545197;10840944;10967548;11146623;11474200;11483358;11804687;11948399;12167865;12431981;12477932;12493763;12527756;12639951;12650603;12684630;12920132;14722073;14735193;14760703;14871807;15077195;15095300;15254226;15302935;15456747;15489334;15701600;15978591;16091750;16169070;16172399;16244788;16288053;16502042;16511565;16617102;16646402;16807247;16831056;16855396;16964243;16969516;17081983;17666527;17671180;17868030;17914590;17922032;17922035;18029348;18067919;18182442;18196870;18306220;18362831;18451880;18640824;18719363;18768194;18769059;19322201;19363681;19366061;19377441;19394292;19403384;19454010;19584269;19703393;19805145;19837670;20022949;20071335;20127688;20185820;20427275;20547755;20585571;20619094;20651739;20661085;20682799;20697987;20710043;20717904;20935042;21047798;21139048;21240515;21258344;21258411;21290196;21336715;21368136;21445634;21448429;21532573;21555589;21595884;21617866;21661415;21670149;21725997;21813470;21835429;21837953;21890473;21892752;21906983;21949998;21965678;22022494;22098246;22139444;22176993;22184113;22196727;22253283;22270359;22270988;22286760;22294699;22537306;22547301;22575258;22576802;22700976;22844865;22864797;22926524;22939629;23000965;23227138;23281010;23283219;23343746;23352453;23371285;23417673;23592142;23618874;23667531;23708667;23718732;23752268;23791785;23803414;23831020;23866297;23900262;23941622;24089055;24214543;24413532;24424621;24457600;24816145;25027693;9885572 9112 C9JJM0;E7ESY4;F8VPC5;F8VSM3;F8W9Y9;H0Y4T7;H0YIT0;H0YIV8;H7C3F3;Q13330;Q9BRL8 AB209348;ABBA01008878;AF508978;AL928654;AMYH02029966;AMYH02029967;AW732089;BC006177;BC009443;BC142941;BE139515;BX248755;BX248776;CH471061;DN997955;NG_029515;NM_001203258;NM_004689;U35113 AAA78935;AAH06177;AAH09443;AAI42942;AAN01613;BAD92585;CAD66562;CAD66583;EAW81918;EAW81919;EAW81920;EAW81921;EAW81922;EAW81923;NP_001190187;NP_004680;Q13330 Hs.525629 1850261;2134438;2134440;2137323;2138546;2141598;2159026;2159028;2163382;2171431 A008K08;G35503;G36209;RH15744;RH44555;RH44655;RH45087;RH78599;SGC34279;WI-16962 OTTHUMP00000197216;OTTHUMP00000197217;OTTHUMP00000197218;OTTHUMP00000197219;OTTHUMP00000197222;metastasis associated gene 1 protein;metastasis associated protein;metastasis-associated protein MTA1 APPROVED protein-coding ENSG00000182979 HGNC:7410 04633 603526 REVIEWED 1315535 MTA2 metastasis associated 1 family, member 2 This gene encodes a protein that has been identified as a component of NuRD, a nucleosome remodeling deacetylase complex identified in the nucleus of human cells. It shows a very broad expression pattern and is strongly expressed in many tissues. It may represent one member of a small gene family that encode different but related proteins involved either directly or indirectly in transcriptional regulation. Their indirect effects on transcriptional regulation may include chromatin remodeling. It is closely related to another member of this family, a protein that has been correlated with the metastatic potential of certain carcinomas. These two proteins are so closely related that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. One of the proteins known to be a target protein for this gene product is p53. Deacetylation of p53 is correlated with a loss of growth inhibition in transformed cells supporting a connection between these gene family members and metastasis. [provided by RefSeq, May 2011] 11 11 11 q12-q13.1 59690240 59698868 - 62360675 62369312 - 62593203 62601840 - 1580863;6480464;9585661;8554872 24880148 10444591;10471500;10545197;11062478;11099047;11102443;11171972;11297506;11331609;11602581;11756549;11850410;12124384;12354758;12374985;12477932;12493763;12705869;12920132;14645126;15016378;15456747;15489334;15701600;15920471;16091750;16159877;16217013;16645043;17081983;17626165;17643375;18029348;18067919;18182442;18333962;18413351;18451880;18781797;19321449;19322201;19394292;19454010;19471022;19644445;19686092;19702911;19703393;19759913;19946888;20127688;20211142;20562859;20585571;20639865;20704817;20714342;21081666;21139048;21145461;21173110;21252943;21258344;21532573;21549307;21670149;21890473;21906983;21937684;21988832;22457607;22505724;22585429;22586326;22797925;22833212;22863883;22926524;22939629;22990118;23000965;23086931;23158992;23281010;23400716;23455922;23708667;23752268;24010737;24116224;24457600;24468085;24657165;24816145;24821728;25027693;9790534;9804427;9885572;9929979 9219 O94776 AB012922;AB016591;ABBA01003230;AF295807;AI380395;AK301569;AL561056;AMYH02024893;AP001458;BC023656;BC053650;BQ574987;CH471076;CR749481;NM_004739 AAG02241;AAH23656;AAH53650;BAA36562;BAA36707;BAG63063;CAH18309;EAW74031;EAW74032;NP_004730;O94776 Hs.173043 2157917;2191679;2217644 MARC_4683-4684:996679606:1;MTA2_3925;RH46908 DKFZp686F2281;MTA1L1;PID MTA1-L1 protein;OTTHUMP00000236453;OTTHUMP00000236454;OTTHUMP00000236455;metastasis -associated gene 1-like 1;metastasis associated gene family, member 2;metastasis-associated 1-like 1;metastasis-associated protein 2;metastasis-associated protein MTA2;p53 target protein in deacetylase complex APPROVED protein-coding ENSG00000149480 HGNC:7411 07233 603947 REVIEWED 1315624 MTA3 metastasis associated 1 family, member 3 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN positive regulation of cell proliferation (inferred); positive regulation of G2/M transition of mitotic cell cycle (inferred); regulation of transcription, DNA-templated (inferred); PARTICIPATES IN CHD family mediated chromatin remodeling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular membrane-bounded organelle; nucleus; INTERACTS WITH 17beta-estradiol; atrazine; hydralazine 2 2 2 p21 42636184 42775597 + 42721709 43011080 + 42494569 42756947 + 1580863;6480464;9585661;8554872 24880148 10471500;10574462;11181995;11483358;12477932;12705869;12920132;14613024;14702039;15169784;15358836;15454082;15489334;16344560;16502042;17050676;17545502;18029348;18067919;18451880;18821565;19322201;19363681;19454010;19505873;19703393;20865667;21139048;21196933;21258344;21549307;21890473;21937684;21988832;22075476;22505724;22863883;22926524;22939629;23000965;23510993;23667531;23671646;23752268;24107548;24293376;24816145 57504 C9JR73;D6W5A2;E7EQY4;E7EV10;E9PCS8;E9PF88;Q9BTC8 AB033092;ABBA01075064;ABBA01075065;ABBA01075066;ABBA01075067;ABBA01075068;ABBA01075069;ABBA01075070;ABBA01075071;ABBA01075072;ABBA01075073;ABBA01075074;ABBA01075075;ABBA01075076;AC025750;AC074375;AC093386;AC098824;AF086450;AK027304;AK122690;AK127245;AL161954;AMYH02003675;AMYH02003676;AMYH02003677;AMYH02003678;AMYH02003679;AMYH02003680;AMYH02003681;AMYH02003682;AW292870;BC004227;BC053631;BU859486;CA447673;CH471053;DA239202;DB335600;NM_001282755;NM_001282756;NM_020744;XM_005264456;XM_005264458;XM_005264459 AAH04227;AAH53631;AAY14699;AAY24040;AAY24110;BAA86580;BAB55028;CAB82305;EAX00313;EAX00314;EAX00315;EAX00316;EAX00317;NP_001269684;NP_001269685;NP_065795;Q9BTC8;XP_005264513;XP_005264515;XP_005264516 Hs.435413;Hs.646800;Hs.745162 1656368;1658198;1687495;2162061;5037552;5037554;5112327 BCD1971;D8S2279;D8S2282;RH103421;RH65437;RH94235;SHGC-64953 KIAA1266 OTTHUMP00000197384;OTTHUMP00000197385;OTTHUMP00000197386;OTTHUMP00000197387;OTTHUMP00000197388;OTTHUMP00000197391;OTTHUMP00000202136;metastasis associated family, member 3;metastasis associated gene family, member 3;metastasis-associated protein MTA3 protein-coding ENSG00000057935 HGNC:23784 12359 609050 VALIDATED 1320830 MTAP methylthioadenosine phosphorylase This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq, Jul 2008] 9 9 9 p21 21740998 21804334 + 21802635 21941040 + 21802636 21865971 + 1580863;2317952;2317953;2317954;6480464;6907045;7242932;7240710;8699517;8554872 15534104;15662124;16373701;2292587 10053015;10404592;11126361;11566337;11985785;12438261;12477932;12826659;12875987;13511301;14506228;15302935;15489334;15492751;15511635;15832197;15852347;16081515;16618910;16631464;16778103;18237276;18555557;19001417;19056867;19272367;19322201;19427650;19578364;19578365;19622299;19665068;19887491;20081810;20302706;20574843;20637465;20647408;21135097;21139048;21342647;21356366;21412930;21606135;21890473;21906983;21962134;21983787;21985704;21988832;22464254;22685558;22863883;23000879;23000965;23040436;23462334;23508829;24324622;24969958;6425836;7604019;8650244;8687427 4507 B4DUC8;F8WES2;J3KRN1;J3QSB7;Q13126 AB062485;ABBA01065175;AF109294;AF216650;AK024734;AK300592;AK309365;AL359922;AMYH02019289;AY712791;BC012316;BC018625;BC026106;BG576334;BM994282;BQ220538;BQ232183;CA440131;CH471071;CR541670;CR541710;FJ224338;HE654772;HE654773;HE654774;HE654775;HE654776;HE654777;L40432;NG_032650;NM_002451;U22233 AAA81646;AAD19641;AAF82688;AAG38871;AAH12316;AAH18625;AAH26106;AAU04442;ACI46030;ADZ15679;BAB93510;BAG62290;CAG46471;CAG46511;CCF77345;CCF77346;CCF77347;CCF77348;CCF77349;CCF77350;EAW58605;EAW58606;NP_002442;Q13126 Hs.193268 1340399;1662416;1703802;1710004;1738461;1739831;2144002;5014051;5017342;5022578;5022651;5037552;7187635 D11S2921;D1S1423;D8S2278;D8S2279;D9S1607;D9S171;D9S1749;D9S916;RH79128;SHGC-14428;SHGC-78937;SHGC-82272 BDMF;DMSFH;DMSMFH;HEL-249;LGMBF;MSAP;c86fus 5'-methylthioadenosine phosphorylase;MTA phosphorylase;MTAPase;MeSAdo phosphorylase;OTTHUMP00000021152;S-methyl-5'-thioadenosine phosphorylase;epididymis luminal protein 249 APPROVED protein-coding ENSG00000099810 HGNC:7413 01134 112250;156540 REVIEWED 6481094 MTAPP1 methylthioadenosine phosphorylase pseudogene 1 3 3 158327422 158327988 - 158609633 158610199 - 100874257 ABBA01058814;AC025033;AMYH02007998;NG_032516 pseudo HGNC:42442 INFERRED 5144713 MTAPP2 methylthioadenosine phosphorylase pseudogene 2 3 3 3 188115910 188116741 - 189686819 189687650 - 189969030 189969861 - 100420621 ABBA01058336;AC016966;AMYH02008401;NG_025668;NG_031929 pseudo HGNC:42443 INFERRED 7174915 MTATP6P2 mitochondrially encoded ATP synthase 6 pseudogene 2 5 5 q21.1 99387621 99388301 - 100051917 100052597 - 100287745 AC113407;AMYH02011856;NG_027709 5094682 PMC55343P7 pseudo HGNC:44576 INFERRED 1345545 MTATT mitochondrially encoded membrane attachment site 4510 HGNC:7416 1354048 MTBP MDM2 binding protein This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug 2012] 8 8 8 q24.12 117646783 117724262 + 121457638 121535875 + 120445398 120523635 + 6480464 10906133;11060448;12477932;14702039;15632057;20305689;21110914;21274008;21692053;21890473;21906983;22370640;22684342;23704573 27085 H0YB28;Q96DY7 ABBA01037836;ABBA01037837;AC105142;AC107877;AK022122;AK300762;AL832671;AMYH02018684;BC013136;CH471060;NG_033151;NM_022045 AAH13136;ABW03419;ABW03745;BAB13965;BAG62427;EAW92006;EAW92007;NP_071328;Q96DY7 Hs.657656 1669502;1774815;2178638;5022578 D1S1423;RH47693;RH65864;WI-17462 MDM2BP;hMTBP MDM2 (mouse double minute 2)-binding protein, 104kD;Mdm2, transformed 3T3 cell double minute 2, p53 binding protein binding protein, 104kDa;OTTHUMP00000228250;mdm2-binding protein APPROVED protein-coding ENSG00000172167 HGNC:7417 12068 605927 REVIEWED 1319508 MTCH1 mitochondrial carrier 1 This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012] 6 6 6 p21.2 38490892 38508924 - 36935911 36954327 - 36968135 36986551 - 1580863;6480464;8554872 10551805;10810093;12377771;12477932;12975309;14574404;14702039;15489334;17670888;18291114;18375015;20379614;20877624;21139048;21856303;21890473;22190034;22277967;22939629;23000965;23207240;23266187;24035008;8125298 23787 A8YXX5;B4E0C5;H0Y8C3;H7C196;Q5TDC2;Q9NZJ7 ABBA01038269;AF151822;AF176006;AF189289;AF192559;AK022783;AK130842;AK225628;AK303318;AK315067;AL122034;AMYH02013560;AY358519;AY947344;BC000702;BC006507;BC009962;BC040659;BC110914;BC125055;BC125056;BC153873;CA412877;CH471081;CQ871250;DR005492;NM_001271641;NM_014341;XM_005248978;XM_005248979 AAD34059;AAD52644;AAF07936;AAF12793;AAH00702;AAH06507;AAH09962;AAH40659;AAI10915;AAI25057;AAI53874;AAQ88883;AAY57875;BAG37540;BAG51115;BAG64387;CAH56806;EAX03925;EAX03926;EAX03927;EAX03928;EAX03929;EAX03930;EAX03931;NP_001258570;NP_055156;Q9NZJ7;XP_005249035;XP_005249036 Hs.485262 1673548;1675379;1773043;1788662;1850549;2109531;5022010 D6S1337;MTCH1;MTCH1_9400;RH1526;RH18159;RH93326;WI-5783 CGI-64;MGC131998;PIG60;PSAP;SLC25A49 OTTHUMP00000016315;OTTHUMP00000016317;OTTHUMP00000016318;OTTHUMP00000215719;cell proliferation-inducing protein 60;mitochondrial carrier homolog 1;presenilin-associated protein;solute carrier family 25, member 49 APPROVED protein-coding ENSG00000137409 HGNC:17586 14787 610449 REVIEWED 1317645 MTCH2 mitochondrial carrier 2 INVOLVED IN protein localization to mitochondrion; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; membrane; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 11 11 11 p11.2 47781598 47811486 - 47638858 47664206 - 47617306 47642654 - 1580863;6480464;8554872 11042152;12407445;12477932;15231747;15489334;15604093;15899861;16196087;18029348;18781797;19079261;19164386;19471022;19692490;19746409;19805454;19812171;19851340;19910641;19910938;19946888;20215397;20386550;20571754;20712903;20724581;20725061;20816152;20816195;20877624;20935630;21139048;21795451;21906983;21963094;21987572;22179955;22190034;22268729;22416135;22443470;22505724;22797925;22939629;23182705;23229156;23266187;23744079;24250222;24457600;8125298 23788 E9PIE4;Q9Y6C9 ABBA01060697;AC104942;AF085361;AF176008;AK223097;AK295218;AK313032;AMYH02024737;AY380792;BC000875;CH471064;CQ871294;CS488907;DB482853;KF455384;NM_014342;XM_005252841;XM_006718172;XM_006718173 AAD40196;AAD52646;AAH00875;AAQ88168;ABM82736;ABM85919;BAD96817;BAG35865;BAG58212;CAH56828;CAM55981;EAW67892;NP_055157;Q9Y6C9;XP_005252898;XP_006718235;XP_006718236 Hs.269944 1683789;1691200;2124681;2124683;2137084 A005S26;G20463;RH26663;RH27471;RH45757 HSPC032;MIMP;SLC25A50 2310034D24Rik;OTTHUMP00000234441;OTTHUMP00000234442;met-induced mitochondrial protein;mitochondrial carrier homolog 2;solute carrier family 25, member 50 APPROVED protein-coding ENSG00000109919 HGNC:17587 14788 613221 VALIDATED 1348438 MTCL1 microtubule crosslinking factor 1 ENCODES a protein that exhibits microtubule binding; poly(A) RNA binding; protein homodimerization activity (ortholog); INVOLVED IN establishment or maintenance of epithelial cell apical/basal polarity (ortholog); microtubule bundle formation (ortholog); positive regulation of microtubule motor activity (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoskeleton; midbody; spindle pole; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; cobalt dichloride 18 18 18 p11.22 8601536 8716876 + 8705659 8832776 + 8705661 8832778 + 737633;6480464;8554872 12477932 14676191;14702039;15489334;16177791;16565220;16964243;17081983;18649358;19156129;19615732;20360068;23902687;24255178;24657165;9872452 23255 J3QL92;J3QLE1;Q9Y4B5 AB018345;ABBA01049936;AK131528;AMYH02034281;AMYH02034282;AP000864;AP001531;BC040542;BX648455;BX648911;NM_015210;XM_005258098;XM_005258099;XM_006722318;XM_006722319;XM_006722320 AAH40542;BAA34522;BAD18666;NP_056025;Q9Y4B5;XP_005258155;XP_005258156;XP_006722381;XP_006722382;XP_006722383 Hs.707920 1646561;1668455;1734592;1772607;1851761;2140747;2157057;2157518;5092820;5108006 A002T11;A006G39;D18S841;D18S922E;D18S944E;G32350;HSC10F012;NIB1243;RH18416;STS-Z41106 CCDC165;KIAA0802;SOGA2 OTTHUMP00000162348;OTTHUMP00000162349;OTTHUMP00000227037;SOGA family member 2;coiled-coil domain containing 165;coiled-coil domain-containing protein 165;hypothetical protein LOC23255;microtubule cross-linking factor 1 APPROVED protein-coding ENSG00000168502 HGNC:29121 11110 615766 PROVISIONAL 5133089 MTCL1P1 MTCL1 pseudogene 1 13 13 13 q21.33 52400329 52400919 + 71497791 71499742 + 70923659 70925610 + 20125088 100288130 ABBA01050323;AL391123;AMYH02028230;NG_029110 CCDC165P1;SOGA2P1 coiled-coil domain containing 165 pseudogene 1;uncharacterized protein KIAA0802-like APPROVED pseudo HGNC:42040 INFERRED 1348021 MTCO1P1 MT-CO1 pseudogene 1 21 21 p11.2 9734540 9735381 + 8845707 8846548 + 56167 AMYH02037502;CR381670;NG_027865 APPROVED pseudo HGNC:7420 INFERRED 1346787 MTCO1P2 MT-CO1 pseudogene 2 14 14 q12 32953299 32954328 - 32484093 32485122 - 326603 AL132988;NG_002593 cytochrome c oxidase pseudogene 2 APPROVED pseudo HGNC:19932 INFERRED 6482121 MTCO1P3 MT-CO1 pseudogene 3 21 21 46796106 46796297 - 45376191 45376382 - 100873205 ABBA01074195;AMYH02037930;BX322559;NG_032327 pseudo HGNC:39604 INFERRED 1347360 MTCO2P1 MT-CO2 pseudogene 1 20 20 20 q13.33 55729277 55729753 - 58989454 58989930 - 60414396 60414872 - 19531499 140909 ABBA01005950;AL121918;AMYH02037390;NG_001007 MTCO2L;dJ342K12.1 cytochrome c oxidase ii-like APPROVED pseudo HGNC:16564 INFERRED 6482112 MTCO2P2 MT-CO2 pseudogene 2 18 18 45379601 45379843 - 47853230 47853472 - 100873202 ABBA01018626;AC120349;AMYH02034675;NG_032189 HsT4010 pseudo HGNC:25354 INFERRED 6482115 MTCO2P3 MT-CO2 pseudogene 3 13 13 57778517 57778938 + 57204383 57204804 + 100873203 ABBA01037018;AL353657;NG_032320 pseudo HGNC:39576 INFERRED 1352145 MTCO3P1 MT-CO3 pseudogene 1 6 6 p21.3 32673921 32674580 - 32706144 32706803 - 404026 ABBA01038131;AL662789;AL731683;AL773543;AMYH02013474;BX248406;BX927168;CR753846;CR933859;NG_027900 U92032.1 APPROVED pseudo HGNC:31342 INFERRED 6482113 MTCO3P2 MT-CO3 pseudogene 2 13 13 24340073 24340243 - 23765934 23766104 - 100873207 ABBA01007882;AL139080;AMYH02027696;NG_032347 pseudo HGNC:39681 INFERRED 1343111 MTCP1 mature T-cell proliferation 1 This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member of the TCL1 family. This protein may be involved in leukemogenesis. [provided by RefSeq, Mar 2009] X X X q28 154451026 154458264 - 154292309 154299547 - 155064034 155071272 - 1580863;6480464 10959629;10983986;11076863;11707444;12477932;1303175;15489334;15489336;16189514;16381901;17136114;19064571;19322201;21832049;8152252;8247530;8361760;8634440;9315101;9518463;9520380;9691281 4515 P56278 AA744518;ABBA01029113;ABBA01029114;ABBA01029115;AMYH02040865;AW976554;BX470111;CH471172;NG_029506;NM_001018025;Z24458;Z24459 CAA80828;EAW72640;EAW72641;EAW72642;NP_001018025;P56278 Hs.6917 1813316;1813462;1817474;1820278;1820344;1820478;1824090;1824486;1826778;1826882;1828672;1831506;1843464;2103166;2189485;2217648 ECD07679;ECD07752;ECD09787;ECD11213;ECD11247;ECD11314;ECD13141;ECD13341;ECD14504;ECD14556;ECD15463;ECD16890;ECD22941;MARC_7353-7354:992008374:4;MTCP1_2941;stSG604429 P13MTCP1;p8MTCP1 MTCP-1 type B1;OTTHUMP00000024241;OTTHUMP00000082776;mature T-cell proliferation 1 isoform p13;mature T-cell proliferation-1 type B1;protein p13 MTCP-1 APPROVED protein-coding ENSG00000214827 HGNC:7423 02122 300116 REVIEWED 1354317 MTCSB1 mitochondrially encoded conserved sequence block I 4516 HGNC:7424 1354145 MTCSB2 mitochondrially encoded conserved sequence block II 4517 HGNC:7425 1344046 MTCSB3 mitochondrially encoded conserved sequence block III 4518 HGNC:7426 4110020 MTCYBP1 MT-CYB pseudogene 1 Y Y Y 988550 989660 - 8232073 8233191 + 8364032 8365150 + 9847074 100499418 AC025731;NG_023458 APPROVED pseudo HGNC:38729 INFERRED 6482159 MTCYBP2 MT-CYB pseudogene 2 Y Y 21033988 21034158 + 18872102 18872272 + 100873168 ABBA01073690;AC009235;NG_032220 pseudo HGNC:38807 INFERRED 6482111 MTCYBP3 MT-CYB pseudogene 3 13 13 96346835 96347956 + 95694581 95695702 + 100873204 ABBA01027181;AL138955;AMYH02028524;NG_032321 pseudo HGNC:39579 INFERRED 6482158 MTCYBP4 MT-CYB pseudogene 4 6 6 133471686 133471967 + 133150547 133150828 + 100873169 ABBA01025874;AL356774;AMYH02014509;KF458285;NG_032377 pseudo HGNC:41923 INFERRED 735692 MTDH metadherin ENCODES a protein that exhibits double-stranded RNA binding; NF-kappaB binding; poly(A) RNA binding; INVOLVED IN lipopolysaccharide-mediated signaling pathway; negative regulation of apoptotic process; negative regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; endoplasmic reticulum; nuclear body; INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; cadmium dichloride 8 8 8 q22.1 94842407 94928366 + 98656375 98742488 + 97644147 97730260 + 6480464;8554872 11823860;12477932;14702039;14980505;15093543;15383321;15489334;15927426;16452207;17081983;17088530;17342744;17397930;17563745;17704808;18029348;18316612;18440304;18519759;19111877;19221438;19304953;19383828;19448665;19615732;19633686;19648967;19740331;19805454;19940250;20020773;20053777;20236756;20300973;20388776;20388796;20565850;20625905;20802479;20845990;20952513;21084864;21127263;21139048;21145461;21150314;21182205;21256156;21259255;21293286;21371176;21408129;21412050;21448238;21478147;21495225;21543927;21609571;21750404;21750868;21753766;21852380;21890473;21906983;21957284;21963094;21964981;21976539;22031094;22056881;22113938;22133054;22195048;22199357;22204714;22246354;22340175;22351252;22363329;22367022;22372608;22412018;22431469;22470125;22643064;22684557;22689379;22768080;22898150;22938468;22939629;22967897;23000965;23011158;23023948;23065261;23142337;23240043;23307243;23364922;23408429;23499911;23595222;23640911;23710918;23835593;23851509;23874603;23889986;23889987;23889988;23889989;23889990;23889991;23889992;24063540;24136747;24256614;24457600;24462870;24529480;24583282;24656097;24674449;24705862;24816145;24855648;24981741 92140 E5RJU9;H0YB56;H0YBE0;H0YBJ8;Q86UE4 ABBA01037507;ABBA01037508;ABBA01037509;ABBA01037510;ABBA01037511;ABBA01037512;AF411226;AF501310;AK000745;AK123083;AK308030;AMYH02018471;AMYH02018472;AMYH02018473;AMYH02018474;AP002982;AP003114;AP003357;AY082966;AY974040;BC001815;BC009324;BC014977;BC022825;BC023994;BC045642;CH471060;NM_178812;XM_005251098;XM_005251099;XM_005251100 AAH09324;AAH14977;AAH45642;AAL92861;AAO65771;AAP30791;AAX84832;ADZ15972;EAW91760;EAW91761;EAW91762;NP_848927;Q86UE4;XP_005251155;XP_005251156;XP_005251157 Hs.377155 1660664;1722237;1735770;1735844;1739585;1771481;1851049;1853434;2117495;2140765;2152754;2158732;2172140;5014029;5023406 A007D43;D13S1639;D8S1375E;D8S1439E;D8S1676E;D8S2022;G60024;RH17796;RH36459;RH45730;RH69405;SGC44379;SHGC-34109;WI-16602;WIAF-2226 3D3;3D3/LYRIC;AEG-1;AEG1;LYRIC/3D3 LYRIC;OTTHUMP00000227231;OTTHUMP00000227366;astrocyte elevated gene 1;astrocyte elevated gene-1 protein;lysine-rich CEACAM1 co-isolated protein;metastasis adhesion protein protein-coding ENSG00000147649 HGNC:29608 17459 610323 VALIDATED 736231 MTERF1 mitochondrial transcription termination factor 1 This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008] 7 7 7 q21.2 86206613 86214608 - 91502021 91510016 - 91872707 91880702 - 6480464 12477932;12690205;12853948;14744862;15087485;15489334;15899902;16336784;17884915;18063578;19681768;20186120;20195357;20379614;20543826;20550934;20846394;20877624;21326908;21447778;21450691;23251661;24598254;7681833;8125298;9118945;9847074 7978 B4DPR9;C9JE25;C9JNM8;C9JU79;Q99551 ABBA01045819;AC003086;AK222730;AK298469;AK313641;AL832861;AMYH02016256;AX405908;BC000965;BC108648;BC130389;BC130391;BU740531;CH236949;CH471091;NM_001301134;NM_001301135;NM_006980;XM_005250593;XM_005250594;XM_005250595;XM_006716126;Y09615 AAB83941;AAH00965;AAI08649;AAI30390;AAI30392;ABM85067;ADR83157;BAD96450;BAG36399;BAG60681;CAA70830;CAD35015;EAL24159;EAW76869;NP_001288063;NP_001288064;NP_008911;Q99551;XP_005250650;XP_005250651;XP_005250652;XP_006716189 Hs.532216 2107417 MTERF__7301 MGC131634;MTERF OTTHUMP00000209142;OTTHUMP00000209146;transcription termination factor 1, mitochondrial;transcription termination factor, mitochondrial APPROVED protein-coding ENSG00000127989 HGNC:21463 08373 602318 VALIDATED 1604591 MTERF2 mitochondrial transcription termination factor 2 ENCODES a protein that exhibits transcription regulatory region DNA binding (ortholog); INVOLVED IN regulation of transcription, DNA-templated (ortholog); transcription, DNA-templated (ortholog); FOUND IN mitochondrial matrix (ortholog); INTERACTS WITH copper(2+) sulfate; cyclosporin A; paracetamol 12 12 12 q24.1 107036630 107046488 - 107371069 107380944 - 106977291 106987166 - 6480464 12477932;14702039;15489334;16193327;16226716;16344560;19366608;20430012;20577816;20877624;8125298 80298 F8VSD8;F8VSL4;F8VXH5;Q49AM1 ABBA01053160;AC007541;AK024124;AK222558;AL832827;AMYH02027139;AY008301;BC008486;BC025984;BC036066;BC050361;BC068468;CH471054;DA074327;NM_001033050;NM_025198;XM_006719612;XM_006719613 AAG22860;AAH25984;AAH36066;ABZ92132;BAB14834;BAD96278;CAI46173;EAW97792;EAW97793;EAW97794;NP_001028222;NP_079474;Q49AM1;XP_006719675;XP_006719676 Hs.5009 1756321;2176587 SGC31762;SHGC-143306 FLJ14062;MTERFD3;mTERFL MTERF domain containing 3;OTTHUMP00000242603;OTTHUMP00000242604;OTTHUMP00000242608;mTERF domain-containing protein 3, mitochondrial;mitochondrial transcription termination factor-like protein;transcription termination factor 2, mitochondrial APPROVED protein-coding ENSG00000120832 HGNC:30779 17431 VALIDATED 1603051 MTERF3 mitochondrial transcription termination factor 3 ENCODES a protein that exhibits transcription regulatory region DNA binding; INVOLVED IN negative regulation of transcription, DNA-templated; FOUND IN mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 8 8 8 q22.1 93437637 93459789 - 97251645 97273796 - 96239398 96261613 - 6480464 10810093;12477932;14702039;15231747;15489334;16193327;17207965;17662942;18029348;20186120;20577816;20877624;21145461;21832049;22939629;24023788 51001 E5RI75;E5RIK9;E5RIY4;Q96E29 ABBA01037490;ABBA01037491;ABBA01037492;AF132946;AK001801;AK309002;AMYH02018454;AP003465;BC012995;CH471060;HY116693;NM_001286643;NM_015942;XM_005250926;XM_005250927;XM_006716568;XM_006716569;XM_006716570 AAD27721;AAH12995;ADQ32770;BAG50978;EAW91750;EAW91751;EAW91752;NP_001273572;NP_057026;Q96E29;XP_005250983;XP_005250984;XP_006716631;XP_006716632;XP_006716633 Hs.308613 CGI-12;FLJ10939;MTERFD1 MTERF domain containing 1;OTTHUMP00000227280;OTTHUMP00000227281;OTTHUMP00000227283;mTERF domain-containing protein 1, mitochondrial;transcription termination factor 3, mitochondrial APPROVED protein-coding ENSG00000156469 HGNC:24258 10823 VALIDATED 1602073 MTERF4 mitochondrial transcription termination factor 4 ENCODES a protein that exhibits rRNA binding; INVOLVED IN camera-type eye development (inferred); heart development (inferred); protein targeting to mitochondrion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; mitochondrial large ribosomal subunit; mitochondrion; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; paracetamol; valproic acid 2 2 2 q37.3 235696211 235711450 - 242026509 242041747 - 241072168 241102332 - 6480464;8554872 12477932;14702039;15489334;16193327;16344560;16713569;20186120;20195357;21531335;21832049;21890473;22675492;22949673;23314748 130916 B4DFP7;B4DKD5;B5MBW3;C9JNJ7;C9JX74;E7EW93;H7C1N9;H7C316;H7C3Q3;Q7Z6M4 AA907534;ABBA01006038;AC005237;AF161359;AK025374;AK055474;AK093695;AK124444;AK126322;AK131298;AK291665;AK294192;AK296515;AMYH02006107;BC044641;BC053533;BM454834;BX648184;CD388157;CH471063;DA496994;DB256263;NM_182501;NR_028049;NR_028050;NR_028051;XM_006712289;XM_006712290;XM_006712291;XM_006712292;XM_006712293;XM_006712294;XM_006712295 AAF28919;AAH53533;BAF84354;BAG57508;BAG59147;EAW71234;EAW71235;NP_872307;Q7Z6M4;XP_006712352;XP_006712353;XP_006712354;XP_006712355;XP_006712356;XP_006712357;XP_006712358 Hs.159556 1661646;1671426;1689211;1716143;2109873;2141078;2146377;2151586;2159854;2179763;2184091 A002H36;D2S1611E;D2S2890;G42008;G42010;RH121037;RH12328;RH93931;SHGC-23196;SNED1_9445;STS-Z41119 FLJ16261;MGC61716;MTERFD2 MTERF domain containing 2;OTTHUMP00000200479;OTTHUMP00000200519;mTERF domain-containing protein 2;transcription termination factor 4, mitochondrial APPROVED protein-coding ENSG00000122085 HGNC:28785 14699 615393 VALIDATED 1319031 MTF1 metal-regulatory transcription factor 1 This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq, Jul 2008] 1 1 1 p33 36553063 36603115 - 38275239 38325292 - 37809567 37859620 - 1580863;6480464;8554872 10504263;11004505;11306562;11923282;12477932;12716893;12805380;14610091;14702039;15318808;15489334;15735762;16189514;16710414;16751776;17503480;18029348;18458062;18990686;19022893;19058789;19060904;19286843;19797083;19913599;19956853;20026331;20688958;21386983;21798283;22021037;22057392;22493691;23368743;24390342;3208749;8065932;8125298;9582278 4520 Q14872 ABBA01023262;ABBA01023263;AI915521;AJ251881;AK125603;AK225923;AK298751;AK309584;AK314233;AL702908;AL929472;AMYH02000803;AMYH02000804;BC014454;CH471059;D31907;NM_005955;X78710 AAH14454;BAA22262;BAG36903;BAG60893;CAA55363;CAB71327;EAX07312;NP_005946;Q14872 Hs.471991 1698726;2107419;2119052;2164142;2174847;5015619 D11S3114;G27427;MTF1__7302;RH102923;STS-AA022685;WI-9347 MGC23036;MTF-1;ZRF MRE-binding transcription factor;MRE-binding transcription factor-1;OTTHUMP00000004731;metal regulatory transcription factor 1;metal-responsive transcription factor 1;transcription factor MTF-1;zinc regulatory factor APPROVED protein-coding ENSG00000188786 HGNC:7428 02546 600172 REVIEWED 1604816 MTFP1 mitochondrial fission process 1 MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM, Mar 2008] 22 22 22 q 14621410 14624732 + 30821611 30825041 + 30425623 30429054 + 6480464 10591208;11042152;12477932;15155745;15461802;15489334;15790807;15985469;15998911;16712791;18660489;19578796;19878569;20877624;21139048;22747683;8889548;9847074 51537 B5MC22;F8WEN7;Q9UDX5 ABBA01055297;AC004832;AF060924;AF151076;AK026104;AMYH02038216;BC001608;BC009300;BC014446;BC030989;BC038831;BC046132;BQ187590;CB107806;CB142469;CH471095;CR456345;CS185601;KF511437;NM_001003704;NM_016498 AAF19257;AAF36162;AAG43136;AAH01608;AAH09300;AAH14446;AAH30989;AAH38831;AAH46132;CAG30231;CAJ42782;EAW59889;EAW59890;EAW59891;NP_001003704;NP_057582;Q9UDX5 Hs.713636 1846572;2173741 A004Y09;RH77730 HSPC242;MTP18 OTTHUMP00000199027;OTTHUMP00000199055;OTTHUMP00000199057;mitochondrial 18 kDa protein;mitochondrial fission process protein 1;mitochondrial fission protein MTP18;mitochondrial protein 18 kDa APPROVED protein-coding ENSG00000242114 HGNC:26945 17612 610235 VALIDATED 1604246 MTFMT mitochondrial methionyl-tRNA formyltransferase The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011] 15 15 15 q22.31 42172045 42200175 - 65293850 65321977 - 65001512 65029639 - 6480464;6907045;8699517;8554872;7240710 12477932;14702039;15489334;19322201;20877624;21832049;21907147;24250222;9614118 123263 B7Z734;H3BTN9;Q96DP5 ABBA01038862;ABBA01038863;AC013553;AC103691;AK055688;AK301390;AMYH02030617;AMYH02030618;BC016630;BC033687;BQ774051;CH471082;DC295382;NG_029184;NM_139242;XM_005254158 AAH16630;AAH33687;BAB70984;BAH13470;EAW77706;EAW77707;NP_640335;Q96DP5;XP_005254215 Hs.531615 1683132;5014051;5015861;5016478;5022578;5037552;7185938 D10S16;D1S1423;D8S2278;D8S2279;GDB:434012;RH103281 COXPD15;FMT1 methionyl-tRNA formyltransferase, mitochondrial APPROVED protein-coding ENSG00000103707 HGNC:29666 14799 611766;614947 REVIEWED 1605712 MTFR1 mitochondrial fission regulator 1 This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009] 8 8 8 q13.1 62548374 62614202 + 66556888 66622798 + 65643873 65710563 + 6480464;8554872 10942595;12359332;12477932;15389597;15489334;16169070;17207965;17709566;20877624;21139048;21900206;24778252;7584026;7584028 9650 B4E3G8;E5RIB6;E5RJS5;H0YBZ4;H0YF01;H7C5V5;Q15390 AA015794;ABBA01041862;ABBA01041863;ABBA01041864;AC055822;AK298945;AK304716;AK316202;AMYH02018095;AMYH02018096;AMYH02018097;AW157714;BC036116;BC043498;BX537854;BX647507;CH471068;CR456910;D13634;NM_001145838;NM_001145839;NM_014637;XM_005251327;XM_006716484 AAH36116;AAH43498;ADQ33046;BAA02798;BAG61044;BAG65480;BAH14573;CAD97862;CAG33191;EAW86881;EAW86882;NP_001139310;NP_001139311;NP_055452;Q15390;XP_005251384;XP_006716547 Hs.584788 1652402;1681851;1774453;2117674;2160605;2161406;5123125 A007H14;D8S1601;RH25249;RH78376;RH98537;STS-D13634;WI-19132 CHPPR;FAM54A2;KIAA0009 OTTHUMP00000226764;OTTHUMP00000226769;OTTHUMP00000226772;chondrocyte protein with a poly-proline region APPROVED protein-coding ENSG00000066855 HGNC:29510 12389 REVIEWED 1606533 MTFR1L mitochondrial fission regulator 1-like INTERACTS WITH cyclosporin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); lead diacetate (ortholog) 1 1 1 p36.11 24542498 24555529 + 26146397 26159433 + 25819906 25832942 + 6480464 11076863;11230166;11256614;12477932;14702039;15221005;15489336;16344560;16381901;21139048;21906983;23443559;8619474;8889548;9110174 56181 C9JF50;E9PIF9;E9PJP7;E9PLD2;E9PLU1;E9PNJ0;E9PPF9;E9PPQ0;E9PRK5;E9PRW1;E9PSD6;Q9H019 AB075880;ABBA01034887;AF173891;AK056721;AK127164;AK290744;AK299221;AK314297;AL020996;AL512766;AMYH02000547;AY007100;BC017175;BI545005;BI769886;BM968565;BX647921;CH471059;DB170641;NM_001099625;NM_001099626;NM_001099627;NM_019557 AAH17175;AAQ13638;BAD38662;BAF83433;BAG36952;BAG51797;BAG61257;CAC21683;CAH56194;CAL38353;EAX07865;EAX07866;EAX07868;NP_001093095;NP_001093096;NP_001093097;NP_062457;Q9H019 Hs.149305 1736156;2160412;5037552 D1S2019E;D8S2279;SHGC-74388 FAM54B;HYST1888;MST116;MSTP116 OTTHUMP00000008508;OTTHUMP00000008509;OTTHUMP00000008510;OTTHUMP00000008511;OTTHUMP00000235244;OTTHUMP00000235249;OTTHUMP00000235280;OTTHUMP00000235283;family with sequence similarity 54, member B;hypothetical protein LOC56181 APPROVED protein-coding ENSG00000117640 HGNC:28836 14248 VALIDATED 1344625 MTFR2 mitochondrial fission regulator 2 INVOLVED IN aerobic respiration (ortholog); mitochondrial fission (ortholog); mitochondrion organization (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (ortholog); INTERACTS WITH (-)-demecolcine; aflatoxin B1; benzo[a]pyrene diol epoxide I 6 6 6 q23.3 137292609 137311889 - 136552168 136571449 - 136231030 136250311 - 6480464;8554872 12477932;14574404;14702039;15489334;16344560;17207965;21139048;21145461;21906983;22505724;24778252 113115 E9PN39;H0YEA6;Q6P444 AA830483;ABBA01025830;AK125758;AK292303;AL121713;AL138828;AMYH02014553;BC011716;BC063688;BG831782;CH471051;DB016393;NM_001099286;NM_138419;XM_006715325 AAH11716;AAH63688;ADQ32558;BAC86277;BAF84992;EAW47953;EAW47954;EAW47955;NP_001092756;NP_612428;Q6P444;XP_006715388 Hs.121536 1696570;5112215 RH102381;SHGC-78186 DUFD1;FAM54A DUF729 domain containing 1;DUF729 domain-containing protein 1;OTTHUMP00000017271;OTTHUMP00000017272;OTTHUMP00000017273;family with sequence similarity 54, member A APPROVED protein-coding ENSG00000146410 HGNC:21115 16884 VALIDATED 1603933 MTG1 mitochondrial ribosome-associated GTPase 1 ENCODES a protein that exhibits GTPase activity; INVOLVED IN GTP catabolic process; regulation of mitochondrial translation; regulation of respiratory system process; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrial inner membrane; mitochondrial matrix; mitochondrial ribosome; INTERACTS WITH 17alpha-ethynylestradiol; all-trans-retinoic acid; cobalt dichloride 10 10 10 q26.3 128283666 128310098 - 135207621 135234174 + 133394117 133420670 + 6480464;8554872 12477932;12808030;14527721;14702039;15164054;15342797;15489334;16169070;16344560;18029348;18482256;20186120;20877624;21832049;23396448;24250222 92170 E7EVK2;E9PI62;Q9BT17;U3KQ69 ABBA01006216;AK074976;AK095872;AK125012;AK292515;AK293988;AK308997;AL161645;AL360181;AL451057;AMYH02024095;BC000920;BC004409;BC026039;BC026725;BC035721;CH471211;CQ782949;DB136242;NM_138384 AAH00920;AAH04409;AAH26039;AAH35721;ACE86427;ACE87102;BAC11327;BAF85204;BAG54121;BAG57354;CAF86177;EAW61348;EAW61349;NP_612393;Q9BT17 Hs.501578 1655652;1677740;1771306;1773987;2134311;2135076;2146034;2146036;2146365 A002U38;A006I19;D10S1371E;G06274;G20843;RH44494;RH78812;RH91171;WI-18269 GTP;GTPBP7;RP11-108K14.2 GTP-binding protein 7 (putative);OTTHUMP00000020814;OTTHUMP00000233441;mitochondrial GTPase 1;mitochondrial GTPase 1 homolog APPROVED protein-coding ENSG00000148824 HGNC:32159 11602 VALIDATED 1605093 MTF2 metal response element binding transcription factor 2 ENCODES a protein that exhibits methylated histone binding; INVOLVED IN negative regulation of histone H3-K27 methylation (ortholog); negative regulation of transcription from RNA polymerase II promoter (ortholog); positive regulation of histone H3-K27 methylation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; ESC/E(Z) complex (ortholog); INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; diarsenic trioxide 1 1 1 p22.1 91798959 91858790 + 93544792 93604638 + 93079235 93139081 + 6480464;8554872 12477932;15231748;15563832;16169070;16344560;19322201;20123894;20211142;21900206;21988832;23455924;24457600;7772254;8619255 22823 B4DZ69;B4DZG1;Q7Z534;Q96G26;Q9Y483 ABBA01045526;AC093577;AF072814;AF073293;AF086050;AF086908;AJ010014;AK290318;AK302776;AK302900;AL117354;AMYH02001494;BC001897;BC010013;BQ025793;CA417978;CH471097;DB173315;KF459519;NM_001164391;NM_001164392;NM_001164393;NM_007358 AAC27080;AAC27618;AAH10013;AAP97138;BAF83007;BAG63981;BAG64073;CAA08970;EAW73083;EAW73084;EAW73085;NP_001157863;NP_001157864;NP_001157865;NP_031384;Q9Y483 Hs.31016 2150409;2158043;2159821;2166450;2178672 D1S3507;SHGC-75142;SHGC-75154;SHGC-75155;SHGC-75156 M96;PCL2;RP5-976O13.1;TDRD19A;dJ976O13.2;hPCl2 OTTHUMP00000011846;OTTHUMP00000012415;metal regulatory transcription factor 2;metal response element-binding transcription factor 2;metal-response element DNA-binding protein M96;metal-response element-binding transcription factor 2;polycomb-like 2;polycomb-like protein 2;putative DNA binding protein;tudor domain containing 19A protein-coding ENSG00000143033 HGNC:29535 14342 609882 VALIDATED 1344224 MTG2 mitochondrial ribosome-associated GTPase 2 Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008] 20 20 20 q13.33 57493254 57512996 + 60758081 60778624 + 62183025 62203568 + 1580863;6480464 11780052;12477932;14702039;15489334;16344560;16712791;17054726;17207965;20877624;21608104;21890473;21900206;23396448;24250222 26164 B4DRC1;Q5JXJ0;Q9H4K7 ABBA01040103;ABBA01040104;AK001603;AK124572;AK299147;AK299189;AK299726;AK316027;AK316325;AL078633;AL117498;AMYH02037416;BC007885;BC012073;BC036716;BC040178;BI087669;BU857001;CA976010;CB127579;CH471077;DA970672;NM_015666;XM_005260393;XM_006723772;XM_006723773;XM_006723774;XM_006723775 AAH36716;ADQ32222;BAA91783;BAG61197;BAG61233;BAG61624;BAH14398;BAH14696;CAB55963;EAW75386;EAW75387;EAW75388;NP_056481;Q9H4K7;XP_005260450;XP_006723835;XP_006723836;XP_006723837;XP_006723838 Hs.340636 1660623;1661110;1721423;2158301;2169834;2169836;5014051;5015404;5022200;5022651;5037552 A006G17;D11S2921;D20S1024;D8S2278;D8S2279;G20785;G59563;L17705;L18426;RH28300;RH47791 FLJ10741;GTPBP5;MGC29512;ObgH1;dJ1005F21.2 GTP binding protein 5 (putative);GTP-binding protein 5;GTP-binding protein 5 (putative);OTTHUMP00000031455;OTTHUMP00000031457;protein obg homolog 1 APPROVED protein-coding ENSG00000101181 HGNC:16239 13617 610919 VALIDATED 7246993 MTHFD2P1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1 3 3 3 q11.2 93759764 93760511 - 95373267 95402037 - 95654423 95683193 - 14702039;16344560 100287639 ABBA01026957;AC131151;AK092228;AMYH02007262;AMYH02007263;BJ991572;BJ991573;DA705646;DB323975;NR_077228 Hs.591320 pseudo ENSG00000244681 HGNC:48859 VALIDATED 1345478 MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like ENCODES a protein that exhibits methylenetetrahydrofolate dehydrogenase (NADP+) activity (inferred); INVOLVED IN folic acid-containing compound biosynthetic process (inferred); histidine biosynthetic process (inferred); methionine biosynthetic process (inferred); PARTICIPATES IN folate cycle metabolic pathway; folate mediated one-carbon metabolic pathway; FOUND IN mitochondrial inner membrane (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 4 4 4 q13.3 72383935 72529069 + 74989019 75168816 + 74123302 74303099 + 6480464;6907045;7242557 22108709 12477932;14702039;20877624;21163947;22610502 441024 F8W7P9;Q8IY64;Q9H903 ABBA01022994;AC093677;AC097470;AI219460;AK021544;AK122799;AMYH02009474;AMYH02009475;AV720429;BC032771;BC037529;BC041943;BC065771;BG566009;BG708427;BI602959;BQ015209;CA438481;CH471057;NM_001144978;XM_005265690;XM_005265691;XM_005265692 AAH32771;AAH37529;AAH65771;AAY40953;EAX05702;EAX05703;EAX05704;EAX05705;EAX05706;EAX05707;NP_001138450;Q9H903;XP_005265747;XP_005265748;XP_005265749 Hs.721011;Hs.740700;Hs.740707 1696936;1701260;1752525;1761317;2158144;2182151;2183349;5020948 G33909;G35510;RH101940;RH104258;SHGC-106408;SHGC-145327;SHGC-8172;SHGC4-1555 FLJ13105;MGC45532;MGC72244 MTHFD2-like;NADP-dependent methylenetetrahydrofolate dehydrogenase 2-like protein;OTTHUMP00000211520;OTTHUMP00000211524;probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 protein-coding ENSG00000163738 HGNC:31865 17608 614047 PROVISIONAL 7246994 MTHFD2P4 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 4 4 4 4 q32.2 160576010 160576808 + 163244259 163245056 + 162323107 162323904 + 100131135 ABBA01070255;AC108162;AMYH02010405;NG_022088 pseudo HGNC:48862 INFERRED 7247096 MTHFD2P5 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 5 7 7 7 q21.11 76918593 76920590 - 82218086 82220079 - 82588770 82590763 - 442707 ABBA01058078;AC004894;AMYH02016165;CH236949;NG_005547 pseudo HGNC:48863 INFERRED 1345036 MTHFD1P1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 pseudogene 1 X X X p11.21 61273023 61276027 - 57418826 57421885 - 57392393 57395452 - 1916813 4523 ABBA01069327;AL928898;AMYH02039535;NG_026706;S57009 FLJ31204;MTHFDL1;MTHFDP1 pseudo HGNC:7433 INFERRED 7246992 MTHFD2P6 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 6 5 5 5 p13.1 41855537 41856475 - 41967242 41968180 - 41967140 41968078 - 100130042 ABBA01024237;AC010408;AMYH02011222;NG_021846 pseudo HGNC:48864 INFERRED 7247190 MTHFD2P7 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 7 3 3 3 q26.33 177613149 177614134 + 179182134 179183119 + 179464346 179465331 + 442098 ABBA01058536;AC007620;AMYH02008225;NG_022282 pseudo HGNC:48865 INFERRED 1315743 MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 15 15 15 q25.1 57073628 57125676 - 80135889 80189627 - 79843547 79897285 - 1580863;6480464;6907045 12477932;12764149;14702039;15489334;16189514;17119116;17891500;18029348;18522750;18830263;19048631;19161160;19738041;19936946;20570913;20634891;20877624;20967262;20972266;21895484;22053931;22505724;24024966;3801490;8522195 10588 H3BMB9;H3BN04;P49914 ABBA01060616;AC015871;AC021483;AK054972;AL109717;AL110101;AMYH02030878;BC012417;BC019921;BC037852;BM313547;BM450865;CB995322;CH471136;CK905549;DB464304;L38928;NG_029243;NM_001199758;NM_006441;NR_037654 AAC41945;AAH12417;AAH19921;EAW99132;NP_001186687;NP_006432;P49914 Hs.194294;Hs.459049 1650678;1662627;1673189;1850702;5018023 MTHFS_(-475A>C);RH17648;RH77833;RH78912;WI-20294 FLJ30410;HsT19268 5,10-methenyl-tetrahydrofolate synthetase;5-formyltetrahydrofolate cyclo-ligase;OTTHUMP00000185568;methenyl-THF synthetase APPROVED protein-coding HGNC:7437 09174 604197 REVIEWED 1351631 MTHPR mitochondrially encoded replication primer 4525 HGNC:7438 1345264 MTHSP1 mitochondrially encoded major H-strand promoter 4526 HGNC:7439 732147 MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008] 14 14 14 q24 44912512 44984454 + 64854754 64926725 + 64388041 64460007 + 1600189;1600190;1580863;1299513;1300048;6480464;6907045;7240710;7242557;7242562;7242561 16315005;2186031;22108709;22332074;22353665;9611072 10828945;12015164;12384833;12477932;12665801;14632302;14647408;15122597;15489334;15503105;15633187;15719048;15797993;15861780;15937947;15953655;16123074;16196087;16236726;16263121;16328059;16552426;16712703;17035141;17114913;17342744;17353931;17417062;17436311;17438114;17449906;17530705;17533396;17548676;17691219;17894836;18029348;18221821;18261183;18277167;18427977;18635682;18767138;18771981;18801628;18818748;18988749;18992148;19019335;19020309;19048631;19056867;19064578;19112534;19130090;19161160;19167960;19328558;19336370;19493349;19527514;19533788;19619240;19649727;19651439;19683694;19706844;19706888;19734545;19737740;19738201;19774638;19858780;19913121;19936946;19946345;19946888;20056620;20140262;20209990;20217437;20334533;20374669;20386493;20447924;20453000;20458436;20473970;20544798;20565774;20570913;20594233;20615890;20628086;20634891;20737570;20824655;20852008;20877624;20890936;21055808;21081666;21090237;21139048;21145461;21252943;21254748;21271780;21319273;21349258;21360829;21537707;2183217;21853274;21890473;21906983;21963094;22053931;22074251;22079093;22268729;22339736;22505724;22797925;22863883;22939629;23000965;23463506;23685927;23798571;23862649;23894459;24197977;24250222;24287951;24332808;24457600;24583282;24654937;24816145;25027693;25118499;2587219;2786332;3053686;3074630;3528153;3877056;9519408 4522 F5H2F4;P11586;V9GY75;V9GYY3;V9GZ32;V9GZ78 ABBA01018358;ABBA01018359;ABBA01018360;ABBA01018361;AK302747;AK309266;AK312361;AL122035;AMYH02029355;AMYH02029356;AMYH02029357;BC001014;BC009806;BC050420;BQ959308;CA446032;CH471061;DC368835;J04031;NG_012450;NM_005956 AAA59574;AAH01014;AAH09806;AAH50420;ABM84560;ABM87852;BAG35279;BAH13795;EAW80857;EAW80858;NP_005947;P11586 Hs.652308 1651140;1668465;1770081;2157404;2165568;2175227;2183311;5113363;5125081 D14S1185;G17812;G35374;G35893;G35987;RH65696;RH66227;SHGC-8058;hummdmcs MTHFC;MTHFD 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase;C-1-tetrahydrofolate synthase, cytoplasmic;C1-THF synthase;OTTHUMP00000180657;OTTHUMP00000245366;c1-tetrahydrofolate synthase;cytoplasmic C-1-tetrahydrofolate synthase APPROVED protein-coding ENSG00000100714 HGNC:7432 01403 172460 REVIEWED 1353032 MTHSP2 mitochondrially encoded minor H-strand promoter 4527 HGNC:7440 1604316 MTHFSD methenyltetrahydrofolate synthetase domain containing ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; formaldehyde 16 16 16 q24.1 70864746 70889806 - 86563782 86588841 - 86530176 86555235 - 6480464 12477932;14702039;19913121;20308539;20628086;21145461;22939629;24250222 64779 B4DN17;F5H0M7;H3BML0;H3BMX6;H3BNE5;H3BP93;H3BPD2;H3BQU0;H3BSB5;H3BSD1;H3BSW8;H3BUU0;H3BVG2;Q2M296 ABBA01034302;ABBA01034303;AC009108;AI263847;AK023060;AK023955;AK096836;AK125015;AK297726;AMYH02032607;BC013911;BC112057;BC112059;BC143702;BC143703;BC143704;BC143705;BC143707;CH471114;NM_001159377;NM_001159378;NM_001159379;NM_001159380;NM_022764;NR_027489;NR_027490;XM_005256099;XM_005256100;XM_005256101;XM_005256103;XM_005256105;XM_005256106;XM_005256107;XM_005256112;XM_005256113;XM_006721247;XM_006721248;XM_006721249;XM_006721250;XM_006721251 AAI12058;AAI12060;AAI43703;AAI43708;BAB14383;BAB14739;BAG53372;BAG60079;EAW95418;EAW95419;EAW95420;EAW95421;EAW95422;NP_001152849;NP_001152850;NP_001152851;NP_001152852;NP_073601;Q2M296;XP_005256156;XP_005256157;XP_005256158;XP_005256160;XP_005256162;XP_005256163;XP_005256164;XP_005256169;XP_005256170;XP_006721310;XP_006721311;XP_006721312;XP_006721313;XP_006721314 Hs.343627 1680252;1691216;1849365 RH80421;RH92076;SHGC-60741 FLJ12998;FLJ13893;MGC138262;MGC138264;MGC177233 methenyltetrahydrofolate synthase domain-containing protein;methenyltetrahydrofolate synthetase domain-containing protein protein-coding ENSG00000103248 HGNC:25778 07808 VALIDATED 1351566 MTIF2P1 mitochondrial translational initiation factor 2 pseudogene 1 1 1 1 p11.2 179658497 179660089 + 121244123 121245715 + 121502325 121503917 + 12932832;17903296 80713 ABBA01003876;AL592494;AMYH02001823;AY091592;NG_002684 pseudo HGNC:14861 INFERRED 1342984 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011] 6 6 6 q25.1 151920551 152156863 + 151186815 151423023 + 150865679 151101887 + 6480464;6907045;7242557;8554872 22108709 12477932;12937168;15013446;15068241;15611115;16171773;16344560;17353931;17634449;18029348;18804703;18978678;19019082;19336575;19373437;19615732;19777576;19913121;19946888;19955471;20628086;20694560;20738937;20877624;20885792;21139048;21145461;21383495;21540461;21741665;22277967;22330827;22520921;22586326;23798571;24123340;24163370;24337577;24816145;25027693 25902 B2RD24;B7ZM99;H0Y327;Q4VXM0;Q4VXM1;Q4VXV2;Q5JYA3;Q5JYA8;Q6UB35 AA478842;AB127387;ABBA01025652;ABBA01025653;ABBA01025654;AK024798;AK127089;AK310342;AK315378;AL035086;AL049694;AL117452;AL133260;AMYH02014711;AMYH02014712;AMYH02014713;AMYH02014714;AMYH02014715;AMYH02014716;AV704883;AW593866;AY374130;AY374131;BC008629;BC017477;BC110319;BC136685;BC144368;BC144369;BE735249;BQ062382;CH471051;CS482713;CS482716;DA195967;DB727926;HB883499;HB895224;HC940908;HC952633;KF458323;NG_029185;NM_001242767;NM_001242768;NM_001242769;NM_015440;XM_005266907;XM_005266910;XM_005266911 AAH08629;AAH17477;AAI10320;AAI36686;AAI44369;AAQ82696;AAQ82697;BAB15009;BAD93193;BAG37771;CAB55934;CAM36319;CAM36320;CBF65969;CBF74049;CBU90841;CBU96477;EAW47760;EAW47761;EAW47762;EAW47763;NP_001229696;NP_001229697;NP_001229698;NP_056255;Q6UB35;XP_005266964;XP_005266967;XP_005266968 Hs.591343 1335672;1336436;1678689;1718839;1854365;1854528;2148260;2149840;5112183;7184443 D2S337;D6S956;RH102196;RH123123;RH15823;RH48516;RH93531;STS-N30148;WI-13575 DKFZp586G1517;FLJ21145;FTHFSDC1;MTC1THFS;RP1-292B18.2;dJ292B18.2 10-formyl-THF synthetase;OTTHUMP00000017418;formyltetrahydrofolate synthetase domain containing 1;mitochondrial C1-tetrahydrofolate synthase;mitochondrial C1-tetrahydrofolate synthetase;monofunctional C1-tetrahydrofolate synthase, mitochondrial APPROVED protein-coding ENSG00000120254 HGNC:21055 09967 611427 REVIEWED 1347555 MTIF2 mitochondrial translational initiation factor 2 During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p16.1 55304281 55336881 - 55463756 55496384 - 55236620 55269248 - 1580863;6480464;8554872 12095986;12477932;12932832;14743216;14968112;17416734;18029348;18051367;19209188;20186120;20468071;20877624;24166409;7829522;8125298;8889548;9925935 4528 B5MCU1;C9JIY5;E7EW07;H7C213;P46199;Q6P1N2 ABBA01075264;ABBA01075265;AC012358;AF494407;AF495546;AK225184;AK307993;AMYH02003849;BC002667;BC009845;BC017243;BC039848;BC054048;BC064977;BC067352;BC082973;BC143541;BU684812;CB961193;CH471053;L34600;NM_001005369;NM_002453;XM_005264335;XM_006712023;XM_006712024 AAA67038;AAH17243;AAH39848;AAH54048;AAH64977;AAI41421;AAM14617;AAM70196;EAX00103;EAX00104;EAX00105;NP_001005369;NP_002444;P46199;XP_005264392;XP_006712086;XP_006712087 Hs.149894 5015961;5022200;5022578 D15S1477;D1S1423;L18426 IF-2(Mt);IF-2mt;IF2(mt) OTTHUMP00000159692;OTTHUMP00000200773;translation initiation factor IF-2, mitochondrial APPROVED protein-coding ENSG00000085760 HGNC:7441 04792 603766 REVIEWED 1322701 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009] 2 2 2 p13.1 74256899 74273604 + 74425690 74442425 + 74198563 74215298 + 1540378;1580863;2302305;6480464;6907045;7242560;7242557 20645850;22108709;3878730;9454603 12477932;15342116;15489334;15815621;16344560;16712791;17353931;18676680;18830263;19048631;19161160;19170196;19322201;19493349;19625176;19692168;20453000;20634891;20877624;21139048;21145461;21890473;21906983;21963094;22114354;22190034;22939629;23295955;24583282;24816145;2587219;8125298;8218174;8939898 10797 B4DY35;B8ZZU9;B9A062;F8WF06;F8WF89;P13995 ABBA01075598;AC073263;AK130664;AK222826;AK223041;AK300035;AK302245;AK313138;AMYH02004090;AU125762;BC001548;BC015062;BC017054;BX475613;CB124593;CH471053;NG_029162;NM_006636;NR_027405;X16396;XM_006711924 AAH01548;AAH15062;AAH17054;AAX93061;ABM85605;BAD96546;BAD96761;BAG35957;BAG61846;BAG63597;CAA34431;EAW99670;EAW99671;EAW99672;EAW99673;NP_006627;P13995;XP_006711987 Hs.469030 1335152;1681086;1685534;1686380;1772617;2107421 D14S71;G07090;MTHFD2__7303;RH47176;RH70261;SHGC-168 NMDMC NAD-dependent methylene tetrahydrofolate dehydrogenase cyclohydrolase;OTTHUMP00000160246;OTTHUMP00000203020;bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial APPROVED protein-coding HGNC:7434 05351 604887 REVIEWED 1352649 MTL2 metallothionein-like 2 4530 HGNC:7443 1349197 MTL3P metallothionein-like 3, pseudogene 18 18 q22.1 66195267 66195356 + 68528030 68528119 + 4531 ABBA01056270;AC067819;AMYH02034918;NG_032177 MTL3 APPROVED pseudo HGNC:7444 INFERRED 1350786 MTL4 metallothionein-like 4 6089206;6719135 4532 HGNC:7445 1343644 MTLSP mitochondrially encoded L-strand promoter 4533 HGNC:7447 1606536 MTMR10 myotubularin related protein 10 ENCODES a protein that exhibits phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH cyclosporin A; methyl methanesulfonate; paracetamol 15 15 15 q13.3 8956604 9009268 - 31220854 31283807 - 30938941 30991604 - 6480464;8554872 11076863;11230166;12477932;12495846;15231748;15489336;16381901;23000965;23505323;24722188 54893 B4DLB6;H3BQP4;H3BQR5;H3BUS9;H3BUZ0;Q9NXD2;X5D963 AA461184;ABBA01038322;AC087481;AC090829;AC243758;AK000320;AK296926;AK303672;AL598227;AL832137;AL832603;BC050478;BC063296;BC094750;BC121171;BC121172;CH471216;KJ534882;KJ534883;KJ534987;KJ535012;KJ535030;KJ535071;KJ535075;KJ535083;NM_017762;XM_005254507;XM_005254508;XM_006720588;XM_006725545;XM_006725546;XM_006725547;XR_429458;XR_430868 AAI21172;AAI21173;AAI66657;AHW56522;AHW56523;AHW56627;AHW56651;AHW56669;AHW56710;AHW56714;AHW56722;BAA91083;BAG59478;BAG64669;CAL37747;EAW61258;EAW61259;NP_060232;Q9NXD2;XP_005254564;XP_005254565;XP_006720651;XP_006725608;XP_006725609;XP_006725610 Hs.30141 1335361;1654024;1663427;1686632;1693640;1694464;1722085;1851763;2161106;7187783 D15S165;G42953;G60084;NIB2035;RH64897;RH78415;RH80621;SHGC-58554;WI-19599 FLJ20313 myotubularin-related protein 10 protein-coding ENSG00000166912 HGNC:25999 07895 VALIDATED 1604201 MTIF3 mitochondrial translational initiation factor 3 This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson's disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009] 13 13 13 q12.2 9078456 9093430 - 28009776 28024739 - 27435639 27450604 - 6480464;8554872 12095986;12477932;14702039;15146197;16340009;16341674;17207965;17267121;17913635;18056078;19209188;19239245;19240061;20877624;20887776;20935630;20976088;21988832;22990118 219402 Q9H2K0 ABBA01035746;AF410851;AK090995;AK094420;AL137059;AMYH02027754;BC039599;BC046166;BG617536;BI460170;BM312841;BM548061;BM768315;CH471075;CN272769;DB456678;DB470026;NM_001166261;NM_001166262;NM_001166263;NM_152912;XM_005266283;XM_006719771;XM_006719772;XM_006719773 AAH39599;AAH46166;AAL04150;ADQ33113;EAX08406;EAX08407;EAX08408;EAX08409;EAX08410;EAX08411;EAX08412;NP_001159733;NP_001159734;NP_001159735;NP_690876;Q9H2K0;XP_005266340;XP_006719834;XP_006719835;XP_006719836 Hs.534582 1682485;1701252;2136838;2180034 RH104254;RH44696;RH71200;WI-18818 FLJ33676;IF-3mt;IF3(mt);IF3mt IF-3(Mt);OTTHUMP00000018168;OTTHUMP00000018169;translation initiation factor IF-3, mitochondrial APPROVED protein-coding ENSG00000122033 HGNC:29788 17609 REVIEWED 1312103 MTM1 myotubularin 1 This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008] X X X q28 149984899 150089187 + 149731104 149841616 + 150562653 150673143 + 1600519;1580863;6480464;7240710;8554872;8699517 8640223 10063835;10466421;10502779;10790201;1090027;10900271;11001925;11456308;11552027;11793470;11846405;12031625;12118066;12217958;12391329;12477932;12495846;12522554;12646134;12847286;12859411;12925573;14500759;14660569;14722070;15489334;15725586;15883335;16964243;17537630;17621527;17827085;18029348;1822801;18429927;18774718;19084976;19129059;19846786;20140253;20301605;20358311;20434914;20477815;20500434;20562859;21135508;21139048;21478156;21488203;22068590;22101172;22403079;22968136;23000965;23818870;9285787;9305655;9450905;9537414;9736772;9781038;9828128;9829274 4534 B7Z499;C9J2A2;Q13496 ABBA01037129;ABBA01037130;ABBA01037131;ABBA01037132;ABBA01037133;ABBA01037134;ABBA01037135;ABBA01037136;ABBA01037137;ABBA01037138;ABBA01037139;ABBA01037140;ABBA01037141;ABBA01037142;ABBA01037143;AC109994;AC136957;AF002223;AF020676;AK291710;AK297021;AK297057;AK304036;AL832715;AMYH02040766;AMYH02040767;AMYH02040768;BC030779;BQ002481;CH471169;DC418907;NG_008199;NM_000252;U46024;XM_005274687;XM_006724820;XM_006724821;XM_006724822 AAC12865;AAC51682;AAH30779;ADZ15544;BAF84399;BAH12477;BAH12485;BAH14097;EAW99377;EAW99378;EAW99379;EAW99380;NP_000243;Q13496;XP_005274744;XP_006724883;XP_006724884;XP_006724885 Hs.655056 1702578;1775183;1851095;2164094;2175586;2184796 DXS1345;DXS8150;RH17874;SHGC-34459;WI-10395;WI-15352 CNM;MTMX;XLMTM OTTHUMP00000025853;myotubularin APPROVED protein-coding ENSG00000171100 HGNC:7448 02331 300415;310400 REVIEWED 1320315 MTL5 metallothionein-like 5, testis-specific (tesmin) Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.2-q13.3 65811526 65855203 - 68474908 68518988 - 68704796 68751520 - 1580863;6480464 10191092;11803038;12477932;12606435;14648882;16341674;23728617 9633 H3BMB2;Q9Y4I5 ABBA01023985;ABBA01023986;AK074817;AK128308;AK292358;AMYH02025023;AP003096;AP003732;AW293246;BC027593;BC054047;BC064579;BG772890;BM790577;CH471076;NM_001039656;NM_004923;U86074;XM_006718751;XR_428932;XR_428933;XR_428934 AAD24668;AAH27593;AAH54047;AAH64579;BAC11228;BAF85047;EAW74718;EAW74719;EAW74720;NP_001034745;NP_004914;Q9Y4I5;XP_006718814 Hs.145932 1697160;5022578;5037552 D1S1423;D8S2279;RH102068 CXCDC2;MTLT CXC domain containing 2;OTTHUMP00000237193;OTTHUMP00000237194;OTTHUMP00000237195;tesmin;testis-specific metallothionein-like protein APPROVED protein-coding ENSG00000132749 HGNC:7446 09186 604374 REVIEWED 1315259 MTMR1 myotubularin related protein 1 This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008] X X X q28 150109440 150181123 + 149861837 149933575 + 150692968 150765102 + 1580863;6480464;6907045 11275328;11733541;11846405;12217958;12477932;12925573;14702039;20685272;21890473;21906983;22797925;23443559;8640223;9736772;9828128;9847074 8776 B7Z3D5;E9PIH9;E9PPP8;F8W764;F8W8S8;F8WA39;H0YDX3;H7BZJ1;H7C406;Q13613;Q8NEC6 ABBA01037152;ABBA01037153;ABBA01037154;ABBA01037155;AF002223;AF057354;AJ224979;AK001816;AK023451;AK024745;AK055513;AK226109;AK295738;AMYH02040769;AMYH02040770;BC011250;BC032947;CH471169;KF454938;KF510174;KF510648;NG_012551;NM_003828;U58032;XM_005274765;XM_005274766;XM_005274767;XM_005274768;XM_006724854;XM_006724855;XM_006724856;XR_247319;XR_430557 AAC79117;AAD40368;AAH32947;BAG50981;BAH12171;CAA12271;EAW99381;EAW99382;EAW99383;EAW99384;EAW99385;EAW99386;EAW99387;EAW99388;NP_003819;Q13613;XP_005274822;XP_005274823;XP_005274824;XP_005274825;XP_006724917;XP_006724918;XP_006724919 Hs.347187 1654926;1679375;1702090;1847770;2129461;2156988 A005E38;DXS1281;DXS7026E;DXS7445E;RH68511;RH98480 OTTHUMP00000025855;OTTHUMP00000025856;OTTHUMP00000025864;OTTHUMP00000233786;myotubularin-related protein 1 APPROVED protein-coding ENSG00000063601 HGNC:7449 02163 300171 REVIEWED 1317364 MTMR12 myotubularin related protein 12 Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] 5 5 5 p13.3 32108592 32194879 - 32227111 32313114 - 32227005 32313008 - 6480464 11214970;11504939;12477932;12495846;12847286;14702039;20379614;21139048;21451436;21890473;21906983;23000965;23818870;24255178 54545 D6RE76;D6RHK0;Q9C0I1 AB051469;ABBA01066733;ABBA01066734;ABBA01066735;ABBA01066736;ABBA01066737;AC025181;AC091961;AF085901;AK000483;AK000967;AL833231;AMYH02011124;AMYH02011125;AY028703;BC057393;CH471118;DB462159;DB483084;NM_001040446;NM_001294343;NM_001294344;XM_005248313;XM_005248314;XM_005248316;XM_005248317 AAH57393;AAK26171;BAA91195;BAB21773;CAH10604;EAX10786;EAX10787;NP_001035536;NP_001281272;NP_001281273;Q9C0I1;XP_005248370;XP_005248371;XP_005248373;XP_005248374 Hs.481836 1676790;1684284;1714049;1727423;1765031;1779956;2110983;2117759;2151882;5019747 1122;D5S562E;G32701;G62969;RH119456;RH26387;RH48207;RH67393;SHGC-148577;SHGC-154201 3-PAP;PIP3AP 3-phosphatase adapter protein;3-phosphatase adapter subunit;OTTHUMP00000220921;OTTHUMP00000220922;OTTHUMP00000220923;myotubularin-related protein 12;phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit;phosphatidylinositol-3 phosphate 3-phosphatase adapter subunit;phosphatidylinositol-3 phosphate 3-phosphatase adaptor subunit;phosphatidylinositol-3-phosphate associated protein APPROVED protein-coding ENSG00000150712 HGNC:18191 05933 606501 REVIEWED 1605703 MTMR11 myotubularin related protein 11 ENCODES a protein that exhibits phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); INTERACTS WITH (+)-catechin; 5-aza-2'-deoxycytidine; cadmium atom 1 1 1 q12-q21 123016513 123024761 - 149900543 149908791 - 149928651 149936898 - 6480464 12477932;12495846;14702039;15231748;16344560;18391951;23563607 10903 A4FU01 ABBA01049314;AC239868;AC244033;AK097000;AK296094;AK298775;AK304691;AK304820;AL590487;BC032655;BC064372;BC094756;BC100818;BC100819;BC100820;BC100821;BQ446006;CH471121;DA492093;DB474756;NM_001145862;NM_181873;U78556;U78557;XM_006711135;XM_006711136;XM_006711137;XR_426759;XR_426760 A4FU01;AAB36952;AAB36953;AAH94756;AAI00819;AAI00820;AAI00821;AAI66616;BAG53406;BAG58848;BAG60917;BAG65462;BAG65568;CAI12649;EAW53588;EAW53589;EAW53590;EAW53591;EAW53592;EAW53593;EAW53594;NP_001139334;NP_870988;XP_006711198;XP_006711199;XP_006711200 Hs.425144 1653363;2131429;2218430;5021676 CRA_4632;RH36569;WI-15828;ksks110 CRA;RP11-212K13.1;hCRA OTTHUMP00000014063;cisplatin resistance associated;cisplatin resistance-associated protein;myotubularin-related protein 11 protein-coding ENSG00000014914 HGNC:24307 16748 VALIDATED 1605051 MTMR14 myotubularin related protein 14 This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010] 3 3 3 p26 9625828 9678788 + 9691117 9744078 + 9649433 9702394 + 6480464;7240710;8554872 11256614;12477932;14702039;15186772;16344560;17008356;19590496;20379614;20595810;21139048;21832049;21890473;21906983;8619474;9110174 64419 B4DJ23;B4DQK9;C9JR61;C9JSR1;F8WBT3;F8WCC0;F8WCG0;F8WEA3;Q8NCE2;Q8WYY9 ABBA01020401;AC022382;AC024163;AF289603;AK021608;AK026058;AK074792;AK128312;AK295891;AK298846;AL713695;AMYH02006236;AY007098;AY545552;BC001674;BC025952;BC035690;BC050626;BF796406;CH471055;DA604126;DC316206;DQ630520;NG_017068;NM_001077525;NM_001077526;NM_022485;XM_005265400;XR_245152 AAH01674;AAH25952;AAH35690;AAH50626;AAL55787;AAS50151;ABG02221;ACE86886;ACE87573;BAB15340;BAC11211;BAG58685;BAG60971;CAD28494;EAW63965;EAW63966;EAW63967;EAW63968;EAW63969;NP_001070993;NP_001070994;NP_071930;Q8NCE2;XP_005265457 Hs.475382 1651713;1656190;5093346 A009L44;G32665;RH12026 C3orf29;FLJ11546;FLJ22405;FLJ46453;FLJ90311;NS5ATP4ABP1;hEDTP HCV NS5A-transactivated protein 4 splice variant A-binding protein 1;HJUMPY;OTTHUMP00000207250;OTTHUMP00000207251;OTTHUMP00000207254;egg-derived tyrosine phosphatase homolog;jumpy;myotubularin-related protein 14 APPROVED protein-coding ENSG00000163719 HGNC:26190 08654 160150;611089 REVIEWED 1347790 MTMR8 myotubularin related protein 8 This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010] X X X q11.2 63834792 63962167 - 63487961 63615333 - 64268081 64395453 - 1580863;6480464;8554872 11275328;12477932;16189514;16344560;21906983;24282552;8125298 55613 B4DQL0;Q96EF0 ABBA01066886;ABBA01066887;ABBA01066888;ABBA01066889;ABBA01066890;ABBA01066891;AK000133;AK225231;AL034408;AL356317;AMYH02039599;AMYH02039600;BC012399;CH471132;DA691850;NG_016567;NM_017677 AAH12399;BAA90964;EAX05410;EAX05411;EAX05412;EAX05413;NP_060147;Q96EF0 Hs.442892 1703096;1717695 RH121754;sWXD3347 FLJ20126;FLJ60798 OTTHUMP00000023430;OTTHUMP00000023431;myotubularin-related protein 8 APPROVED protein-coding ENSG00000102043 HGNC:16825 06664 REVIEWED 1321134 MTMR4 myotubularin related protein 4 ENCODES a protein that exhibits metal ion binding (inferred); phosphatase activity (inferred); protein serine/threonine phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); negative regulation of transforming growth factor beta receptor signaling pathway (inferred); peptidyl-tyrosine dephosphorylation (inferred); ASSOCIATED WITH Muscular Atrophy (ortholog); FOUND IN extracellular space; INTERACTS WITH 8-bromo-3',5'-cyclic AMP; aflatoxin B1; benzo[a]pyrene 17 17 17 q22-q23 53028691 53057049 - 56566893 56595271 - 58489532 58518107 - 1580863;6480464;7242174;8554872 19125695 10888877;11302699;12477932;15231748;19322201;19329342;20061380;20736309;21940522;23150675;9734811;9736772 9110 J3KT95;J3QKV8;J3QLB9;J3QR65;J3QRJ2;J3QS98;Q9NYA4 AB014547;ABBA01041337;ABBA01041338;ABBA01041339;AC005666;AF264717;AI538945;AK308877;AMYH02033689;AMYH02033690;BC035609;CH471109;DR003190;NM_004687;XM_005257784;XM_005257785;XM_005257786;XM_006722168 AAF72539;AAH35609;BAA31622;EAW94454;EAW94455;NP_004678;Q9NYA4;XP_005257841;XP_005257842;XP_005257843;XP_006722231 Hs.514373 1691740;1695968;1728991;1740027;1773621;2108269;2121331;2126999;2144916;2145864;5127473 A002V09;AA596759;D17S1363E;D17S1780;D17S2030;G06215;G42216;MTMR4_8899;SHGC-78927;STS-H68355;WI-12688 FYVE-DSP2;KIAA0647;ZFYVE11 FYVE domain-containing dual specificity protein phosphatase 2;myotubularin-related protein 4;zinc finger FYVE domain-containing protein 11;zinc finger, FYVE domain containing 11 protein-coding ENSG00000108389 HGNC:7452 11945 603559 VALIDATED 1313370 MTMR6 myotubularin related protein 6 ENCODES a protein that exhibits calcium-activated potassium channel activity; INVOLVED IN potassium ion transmembrane transport; PARTICIPATES IN fructose and mannose metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 5-aza-2'-deoxycytidine 13 13 13 q12 6884597 6925963 - 25820339 25861704 - 25246201 25287566 - 1580863;6480464;6907045;8554872 11076863;11230166;11256614;12477932;12646134;12847286;12890864;14702039;15057823;15489334;15489336;15831468;16381901;16847315;17081983;17452356;19038970;19322201;21139048;21890473;21906983;21988832;22505724;22797925;23000965;23188820;24591580;9736772 9107 Q9Y217 ABBA01007900;AF072928;AF406619;AK025507;AK093237;AK094082;AK314587;AL044815;AL590787;AL832017;AMYH02027718;BC031834;BC035436;BC040012;BU177677;CH471075;EF491793;NM_004685;U47635;XM_006719891;XM_006719892 AAB18856;AAC78841;AAH31834;AAH40012;AAL01037;BAG37162;CAD89918;CAL37559;CAL37715;EAX08367;NP_004676;Q9Y217;XP_006719954;XP_006719955 Hs.643702 1667086;1736318;1853925;2165286 A007G03;D13S1453;D13S824E;RH11246 OTTHUMP00000018145;myotubularin-related protein 6 protein-coding ENSG00000139505 HGNC:7453 11946 603561 VALIDATED 1315320 MTMR7 myotubularin related protein 7 This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009] 8 8 8 p22 16120349 16236789 - 17154306 17271040 - 17296797 17413531 - 1580863;6480464;6907045;8554872 11275328;12477932;12890864;12925573;14702039;18029348;20379614;22137330;9736772 9108 B4E1E5;B7Z9Q7;B7ZAG8;E5RK11;Q9Y216 ABBA01021584;ABBA01021585;AC124074;AF073482;AK123201;AK294468;AK303762;AK303803;AK316022;AK316283;AMYH02017530;AMYH02017531;AMYH02017532;AW014721;BC130577;BC130579;CH471080;CR749240;DC325464;NM_004686;XM_006716414 AAC77820;AAI30578;AAI30580;ADR83108;ADR83245;BAG57698;BAG64728;BAG64757;BAH14393;BAH14654;CAH18096;EAW63816;NP_004677;Q9Y216;XP_006716477 Hs.625674 1750271;2132101;2172680;2219952 A008M23;D8S1687;MTMR7__6173;SHGC-112498 DKFZp781E194;MGC163449;MGC163451 OTTHUMP00000224794;OTTHUMP00000224795;myotubularin-related protein 7 APPROVED protein-coding HGNC:7454 16027 603562 REVIEWED 4110706 MTND1P1 MT-ND1 pseudogene 1 Y Y Y p11.2 981670 982037 - 8239704 8240071 + 8371663 8372030 + 9847074 100499468 AC025731;NG_023506 APPROVED pseudo HGNC:38728 INFERRED 2303676 MTMR9LP myotubularin related protein 9-like, pseudogene INTERACTS WITH aflatoxin B1; valproic acid 1 1 1 p35.1 30967432 30977482 - 32697261 32707311 - 32231660 32241710 - 6480464 12477932;14702039;16344560 339483 ABBA01023434;AI927242;AK055560;AK096109;AL121991;AL833686;AMYH02000706;BC016171;BC041632;DB026894;NR_026850 Hs.471067 1680070;2107033;2115908;2121843;2144777;5017506 2STS01;EIF3S2_7926;RH71226;RH98843;SHGC-74136;SHGC-74533 FLJ30998;MTMR9L APPROVED pseudo HGNC:27920 14168 VALIDATED 6482120 MTND1P11 MT-ND1 pseudogene 11 9 9 5094100 5095016 + 5094100 5095016 + 100873212 ABBA01065417;AL161450;AMYH02019083;NG_032399 pseudo HGNC:42060 INFERRED 1323545 MTMR2 myotubularin related protein 2 This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 11 q22 92864432 92955746 - 95566044 95657371 - 95832880 95924207 - 1580863;6480464;6907045;7240710;8554872;8699517 10470851;10737800;10802647;11835375;11846405;12398840;12477932;12668758;12837694;12925573;14690594;15123239;15342556;15489334;15998640;16344560;16410353;17336078;17880751;18429927;18774718;19322201;19416867;20301532;20301641;20410104;20709679;21372139;21510942;21741241;21963094;22863883;22939629;23378027;23781969;24816145;8640223;9736772 8898 C9JEX3;Q13614 AB028996;ABBA01040009;AI360884;AK027038;AK291277;AK293243;AK302940;AL705005;AMYH02025385;AMYH02025386;AMYH02025387;AP000870;AP001877;BC012086;BC034474;BC040432;BC052990;BF960838;BG252116;BM475570;BP358035;BX107577;BX647997;CH471065;DA220281;DA831307;DR762520;GD143864;KF455453;NG_008333;NM_001243571;NM_016156;NM_201278;NM_201281;U58033;XM_005274374;XM_005274375;XM_006718933;XM_006718934;XM_006718935;XM_006718936 AAC79118;AAH52990;BAA83025;BAF83966;BAG56777;BAG64098;EAW66971;EAW66972;EAW66973;EAW66974;NP_001230500;NP_057240;NP_958435;NP_958438;Q13614;XP_005274431;XP_005274432;XP_006718996;XP_006718997;XP_006718998;XP_006718999 Hs.181326 1664192;1714643;1773205;1848077;1856121;2119834 RH119986;RH45560;RH69570;SHGC-32290;SHGC-52606;WI-21645 CMT4B;CMT4B1;KIAA1073 OTTHUMP00000204445;OTTHUMP00000204446;OTTHUMP00000204447;OTTHUMP00000204448;myotubularin-related protein 2 APPROVED protein-coding ENSG00000087053 HGNC:7450 04650 601382;603557 REVIEWED 1343929 MTMR3 myotubularin related protein 3 This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12.2 14078881 14226583 + 30279149 30426857 + 29883160 30030868 + 1580863;6480464;8554872 10591208;10733931;10900271;11181995;11302699;11676921;11846405;12477932;14702039;15461802;15840652;16344560;16751776;16787938;18029348;18774718;19915574;20059746;20477815;21102463;21145461;21399633;21725308;21988832;22197929;23128233;23154468;24097068;24255178;24840251;8640223;8889548;9205841;9736772;9847074 8897 C9JLU3;G5E953;Q13615 AB002369;ABBA01055286;ABBA01055287;ABBA01055288;ABBA01055289;AC003071;AC003681;AC004819;AF233436;AF233437;AF233438;AK056895;AK289581;AMYH02038209;AMYH02038210;AW014234;BC142713;BC148216;BC151217;BC152455;BI462128;BU733010;CH471095;CR456525;DA126318;NM_021090;NM_153050;NM_153051;U58034;XM_005261803;XM_005261804;XM_005261805;XM_005261806;XM_005261807;XM_005261808;XM_005261809 AAB83949;AAB88872;AAC79119;AAF40203;AAF40204;AAF40205;AAI41655;AAI41657;AAI42714;AAI48217;AAI51218;AAI52456;BAA20826;BAF82270;CAG30411;CAK54556;CAK54855;EAW59849;EAW59850;EAW59851;EAW59852;EAW59853;EAW59854;EAW59855;EAW59856;NP_066576;NP_694690;NP_694691;Q13615;XP_005261860;XP_005261861;XP_005261862;XP_005261863;XP_005261864;XP_005261865;XP_005261866 Hs.474536 1674118;1676061;1679736;1680246;1682459;1784534;2138896;2147747;2149879;2158450;2177624;2219950;5113093 D22S973E;MTMR3__6172;RH11219;RH17431;RH27921;RH68755;RH70167;RH80308;RH80876;SHGC-171878;SHGC-37137;WI-19805;WI-19851 FLJ32333;FYVE-DSP1;KIAA0371;ZFYVE10 FYVE (Fab1 YGLO23 Vsp27 EEA1 domain) dual-specificity protein phosphatase;FYVE domain-containing dual specificity protein phosphatase 1;OTTHUMP00000199666;OTTHUMP00000199667;OTTHUMP00000199668;OTTHUMP00000199669;myotubularin-related protein 3;zinc finger FYVE domain-containing protein 10;zinc finger, FYVE domain containing 10 APPROVED protein-coding ENSG00000100330 HGNC:7451 09151 603558 REVIEWED 6483762 MTND1P13 MT-ND1 pseudogene 13 22 22 24347831 24349491 + 242006 243666 + 100887745 ABBA01055124;AP000351;NG_032764 pseudo HGNC:42096 INFERRED 735915 MTMR9 myotubularin related protein 9 This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008] 8 8 8 p23-p22 10270023 10313681 + 11142000 11185655 + 11284491 11328146 + 1580863;6480464;8554872 10458905;11472061;11896452;12477932;12890864;14702039;15489334;16189514;17855449;19038970;19322201;19447967;20712903;21060863;21139048;21145461;21796137;22505724;23455924;24591580;24937802;8125298;8619474;9110174 66036 E9PR67;Q96QG7 ABBA01026881;ABBA01026882;AF052099;AF131216;AJ297823;AJ297824;AK000444;AK022071;AK223525;AK294463;AK303543;AL080178;AMYH02017438;BC017985;BC022003;BC034990;BC093788;BC101623;BU631532;BX538176;CH471157;NM_015458;XM_005272396 AAH22003;AAH34990;AAH93788;AAI01624;ABM84895;ABW03647;BAA91170;BAD97245;BAG64569;BAH11777;CAB45763;CAC51114;CAC51115;EAW65607;EAW65608;EAW65609;NP_056273;Q96QG7;XP_005272453 Hs.591395 1654736;1669169;1686634;1687155;2158432;2160841;2162601;5022200;5022578;5022651;5109362 D11S2921;D17S1239;D1S1423;D8S1593;L18426;RH47610;RH94325;RH98511;SHGC-24302;SHGC-53404;SHGC-57848 C8orf9;DKFZp434K171;LIP-STYX;MGC126672;MTMR8 OTTHUMP00000115806;OTTHUMP00000229484;myotubularin related protein 8;myotubularin-related protein 9 APPROVED protein-coding ENSG00000104643 HGNC:14596 09377 606260 REVIEWED 5133149 MTND1P15 MT-ND1 pseudogene 15 17 17 p11.2 22024062 22025022 + 22524736 22525696 + 100288998 AC131055;AC132825;AMYH02033202;NG_029089 pseudo HGNC:42064 INFERRED 6482122 MTND1P16 MT-ND1 pseudogene 16 3 3 106619915 106620809 + 106901068 106901962 + 100873213 ABBA01061716;AC063927;AMYH02007378;NG_032401 pseudo HGNC:42065 INFERRED 733483 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009] 1 1 1 p36.3 10959433 10979782 - 11845787 11866160 - 11785730 11806103 - 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4524 F6XU28;P42898;Q59GJ6;Q5SNW5;Q5SNW7;Q8IU67 AB209113;ABBA01003060;AF105977;AF105978;AF105979;AF105980;AF105981;AF105982;AF105983;AF105984;AF105985;AF105986;AF105987;AF398930;AJ237672;AJ249275;AK312907;AL021155;AL953897;AMYH02000300;AY046560;AY046561;AY046562;AY046563;AY046564;AY046565;AY338232;BC011614;BC018766;BC053509;CH471130;CN355286;JQ429447;NG_013351;NM_005957;XM_005263458;XM_005263460;XM_005263461;XM_005263462;XM_005263463 AAA74440;AAD17965;AAH53509;AAL17646;AAL17647;AAL17648;AAL17649;AAL17650;AAL17651;AAN40863;AAN40864;AAN40865;AAP88033;AFQ62002;BAD92350;BAG35753;CAB41971;CAB81551;CAB81552;EAW71708;EAW71709;NP_005948;P42898;XP_005263515;XP_005263517;XP_005263518;XP_005263519;XP_005263520 Hs.214142;Hs.737916 1788534;1788536;1788538;1788540;1788542;1788544;1788546;1791456;1794430;2116950;2127767;2173222;2185137;5015619;5019731;5022578 A009L06;AL009629;D11S3114;D1S1423;G32638;G67545;G67546;G67547;G67548;G67549;G67550;G67551;PMC110766P1;PMC31169P1;RH63770;SHGC-74205 5,10-methylenetetrahydrofolate reductase (NADPH);OTTHUMP00000002367;OTTHUMP00000002368;OTTHUMP00000002373;methylenetetrahydrofolate reductase APPROVED protein-coding ENSG00000177000 HGNC:7436 06158 181500;188050;236250;601634;607093 REVIEWED 6482160 MTND1P2 MT-ND1 pseudogene 2 7 7 63572133 63572950 - 64111755 64112572 - 100873170 ABBA01027970;AC115220;AMYH02015848;NG_032397 pseudo HGNC:42051 INFERRED 6482127 MTND1P19 MT-ND1 pseudogene 19 4 4 93623496 93623786 + 92702345 92702635 + 100873220 ABBA01063599;AC022317;AMYH02009744;NG_032412;NG_034113 pseudo HGNC:42094 INFERRED 5133151 MTND1P22 MT-ND1 pseudogene 22 4 4 4 q32.1 153715529 153716479 - 156384025 156384975 - 155462873 155463823 - 9847074 100287591 ABBA01070169;AC097526;AMYH02010340;NG_029085 pseudo HGNC:42093 INFERRED 6483999 MTND1P23 MT-ND1 pseudogene 23 1 1 564442 564820 + 629062 629440 + 100887749 ABBA01003011;AC114498;AMYH02000059;NG_032769 pseudo HGNC:42092 INFERRED 6482024 MTND1P14 MT-ND1 pseudogene 14 17 17 19505572 19506518 + 19602259 19603205 + 100873337 ABBA01054600;AC025627;AMYH02033169;NG_032400 pseudo HGNC:42063 INFERRED 6482030 MTND1P21 MT-ND1 pseudogene 21 10 10 21093210 21093509 + 20804281 20804580 + 100873340 ABBA01034506;AL157398;AMYH02022414;NG_032404 pseudo HGNC:42070 INFERRED 6482027 MTND1P10 MT-ND1 pseudogene 10 22 22 36574604 36574806 + 36178556 36178758 + 100873343 ABBA01055436;AMYH02038314;NG_032414;Z95114 pseudo HGNC:42097 INFERRED 6482029 MTND1P18 MT-ND1 pseudogene 18 10 10 37889724 37890296 - 37600796 37601368 - 100873338 ABBA01033299;AL121927;AMYH02022656;NG_032402 pseudo HGNC:42067 INFERRED 6482025 MTND1P20 MT-ND1 pseudogene 20 10 10 71355243 71356192 - 69595487 69596436 - 100873339 ABBA01019610;AL450311;AMYH02023273;NG_032403 pseudo HGNC:42069 INFERRED 6482026 MTND1P17 MT-ND1 pseudogene 17 22 22 17357108 17357263 - 16876218 16876373 - 100873342 ABBA01001462;AC007064;AMYH02037983;NG_032413 pseudo HGNC:42095 INFERRED 5133147 MTND1P25 MT-ND1 pseudogene 25 1 1 q43 238106002 238106941 - 237942702 237943641 - 100288950 ABBA01033187;AL590396;AMYH02002996;NG_008799;NG_029087 pseudo HGNC:42091 INFERRED 6482031 MTND1P24 MT-ND1 pseudogene 24 12 12 42093196 42094053 - 41699394 41700251 - 100873341 ABBA01031390;AC018698;AMYH02026347;NG_032405 pseudo HGNC:42073 INFERRED 6482128 MTND1P26 MT-ND1 pseudogene 26 2 2 132143273 132143996 - 131385700 131386423 - 100873214 ABBA01028239;AC073869;AMYH02004808;NG_032406 pseudo HGNC:42075 INFERRED 6482125 MTND1P28 MT-ND1 pseudogene 28 2 2 117781494 117782440 + 117023918 117024864 + 100873215 ABBA01045959;AC012365;AMYH02004627;NG_032407 pseudo HGNC:42077 INFERRED 5133152 MTND1P27 MT-ND1 pseudogene 27 2 2 2 q22.1 134689805 134692343 - 140978132 140979042 - 140220563 140221473 - 100288227 ABBA01028106;AC092156;AMYH02004888;NG_029086 pseudo HGNC:42076 INFERRED 6482129 MTND1P29 MT-ND1 pseudogene 29 2 2 131029359 131029842 + 130271786 130272269 + 100873216 ABBA01017954;AC068137;AMYH02004775;NG_032408 pseudo HGNC:42078 INFERRED 5133150 MTND1P3 MT-ND1 pseudogene 3 7 7 7 q34 136224943 136225899 - 141503495 141504432 - 141803695 141804632 - 12853948 100288984 ABBA01034110;AC004979;AMYH02016923;NG_029083 pseudo HGNC:42052 INFERRED 6482124 MTND1P31 MT-ND1 pseudogene 31 X X 62061982 62062975 + 62842512 62843505 + 100873217 ABBA01027355;AMYH02039557;BX119964;NG_032409 pseudo HGNC:42080 INFERRED 6482126 MTND1P34 MT-ND1 pseudogene 34 1 1 47630164 47631544 - 47164492 47165872 - 100873219 ABBA01050830;AL135960;AMYH02000968;NG_032411 pseudo HGNC:42090 INFERRED 5133103 MTND1P30 MT-ND1 pseudogene 30 X X X p11.21 59042081 59049208 - 55206804 55207740 - 55180371 55181307 - 100507157 ABBA01069557;AL158819;AMYH02039497;NG_029084 pseudo HGNC:42079 INFERRED 5133119 MTND1P36 MT-ND1 pseudogene 36 11 11 q22.3 103278169 103279104 - 103407441 103408376 - 100506721 ABBA01039927;AMYH02025495;AP003461;NG_029088 pseudo HGNC:42086 INFERRED 6482123 MTND1P33 MT-ND1 pseudogene 33 X X 142520836 142521749 + 143433042 143433955 + 100873218 ABBA01066386;AC239395;AL030997;AMYH02040694;NG_032410 pseudo HGNC:42082 INFERRED 6482163 MTND1P4 MT-ND1 pseudogene 4 7 7 57253115 57253908 + 57185408 57186201 + 100873171 ABBA01028299;AC099654;AMYH02015777;NG_032398 pseudo HGNC:42053 INFERRED 6482166 MTND1P5 MT-ND1 pseudogene 5 8 8 104097895 104098821 + 103085667 103086593 + 100873174 ABBA01037629;AMYH02018541;AP003550;NG_032418 pseudo HGNC:42104 INFERRED 1346939 MTND2P1 MT-ND2 pseudogene 1 21 21 q22.12 37263524 37264449 - 35891226 35892151 - 10830953 387315 ABBA01057375;AF020802;AMYH02037769;NG_011402;NG_027939 APPROVED pseudo HGNC:7457 INFERRED 6482133 MTND1P9 MT-ND1 pseudogene 9 20 20 55932485 55933425 - 57357429 57358369 - 100873221 ABBA01052924;AL135939;AMYH02037352;NG_032415 pseudo HGNC:42099 INFERRED 5133154 MTND1P8 MT-ND1 pseudogene 8 16 16 16 p13.3 3626712 3627667 - 3419950 3420905 - 3369950 3370905 - 100287461 ABBA01026740;AC025283;AMYH02031289;NG_029090 pseudo HGNC:42100 INFERRED 6482136 MTND2P11 MT-ND2 pseudogene 11 9 9 112062496 112063424 + 109300216 109301144 + 100873222 ABBA01042766;AL359963;AMYH02021434;NG_032423 pseudo HGNC:42112 INFERRED 6482161 MTND1P7 MT-ND1 pseudogene 7 8 8 47739739 47740035 - 46828117 46828413 - 100873172 ABBA01018439;AC021451;AMYH02017931;NG_032416 pseudo HGNC:42102 INFERRED 6482162 MTND1P6 MT-ND1 pseudogene 6 8 8 32871599 32872543 + 33014081 33015025 + 100873173 ABBA01023618;AC090204;AMYH02017760;NG_032417 pseudo HGNC:42103 INFERRED 6482130 MTND2P14 MT-ND2 pseudogene 14 3 3 106621020 106621370 + 106902173 106902523 + 100873223 ABBA01061716;AC063927;AMYH02007378;NG_032426 pseudo HGNC:42115 INFERRED 6482147 MTND2P10 MT-ND2 pseudogene 10 8 8 104099338 104100261 + 103087110 103088033 + 100873238 ABBA01037629;AMYH02018541;AP003550;NG_032445 pseudo HGNC:42140 INFERRED 6482034 MTND2P13 MT-ND2 pseudogene 13 17 17 22025225 22026250 + 22525899 22526924 + 100873345 AC131055;AC132825;AMYH02033202;NG_032425 pseudo HGNC:42114 INFERRED 6482036 MTND2P16 MT-ND2 pseudogene 16 10 10 20036751 20037718 + 19747822 19748789 + 100873347 ABBA01034516;AL353147;AMYH02022403;NG_032428 pseudo HGNC:42117 INFERRED 6482033 MTND2P17 MT-ND2 pseudogene 17 12 12 42092297 42092984 - 41698495 41699182 - 100873348 ABBA01031390;AC018698;AMYH02026347;NG_032429 pseudo HGNC:42118 INFERRED 6482135 MTND2P18 MT-ND2 pseudogene 18 2 2 132142034 132143063 - 131384461 131385490 - 100873224 ABBA01028239;AC073869;AMYH02004808;NG_032430 pseudo HGNC:42119 INFERRED 5684429 MTND1P32 MT-ND1 pseudogene 32 X X 102040606 102041532 + 102785678 102786604 + 100856881 ABBA01020971;AL590407;AMYH02040161;NG_031905 pseudo HGNC:42081 INFERRED 6482131 MTND2P19 MT-ND2 pseudogene 19 2 2 140977213 140977937 - 140219644 140220368 - 100873225 ABBA01028106;AC092156;AMYH02004888;NG_032431 pseudo HGNC:42120 INFERRED 1349959 MTND2P2 MT-ND2 pseudogene 2 X X X q22.1 102480778 102482352 + 102041742 102043316 + 102786814 102788388 + 56168 ABBA01020971;AL590407;AMYH02040161;NG_002320 2177756 A008Q11 bA522L3.2 nadh dehydrogenase 2 pseudogene 2 APPROVED pseudo HGNC:23767 INFERRED 6482134 MTND2P21 MT-ND2 pseudogene 21 2 2 117782650 117783688 + 117025074 117026112 + 100873227 ABBA01045959;AC012365;AMYH02004627;NG_032433 pseudo HGNC:42122 INFERRED 6482132 MTND2P20 MT-ND2 pseudogene 20 2 2 156120675 156121335 - 155264163 155264823 - 100873226 ABBA01004822;AC092662;AMYH02005022;NG_032432 pseudo HGNC:42121 INFERRED 6482142 MTND2P22 MT-ND2 pseudogene 22 2 2 131030052 131031081 + 130272479 130273508 + 100873228 ABBA01017954;AC068137;AMYH02004775;NG_032434 pseudo HGNC:42123 INFERRED 6482138 MTND2P23 MT-ND2 pseudogene 23 2 2 212641931 212642581 + 211777206 211777856 + 100873229 ABBA01062753;AC105921;AMYH02005696;NG_032435 pseudo HGNC:42124 INFERRED 6482137 MTND2P24 MT-ND2 pseudogene 24 X X 55205565 55206596 - 55179132 55180163 - 100873230 ABBA01069558;AL158819;AMYH02039497;NG_032436 pseudo HGNC:42125 INFERRED 6482140 MTND2P25 MT-ND2 pseudogene 25 X X 62063196 62063740 + 62843726 62844270 + 100873231 ABBA01027355;AMYH02039557;BX119964;NG_032437 pseudo HGNC:42126 INFERRED 6482143 MTND2P27 MT-ND2 pseudogene 27 1 1 238104758 238105792 - 237941458 237942492 - 100873232 ABBA01033187;AL590396;AMYH02002996;NG_008799;NG_032439 pseudo HGNC:42128 INFERRED 6484045 MTND2P28 MT-ND2 pseudogene 28 1 1 565020 566066 + 629640 630686 + 100652939 ABBA01003011;AC114498;AMYH02000059;NG_032768 pseudo HGNC:42129 INFERRED 6482037 MTND2P26 MT-ND2 pseudogene 26 11 11 103276947 103277969 - 103406219 103407241 - 100873349 ABBA01039927;AMYH02025495;AP003461;NG_032438 pseudo HGNC:42127 INFERRED 6482141 MTND2P29 MT-ND2 pseudogene 29 1 1 50482758 50483176 + 50017086 50017504 + 100873233 ABBA01050789;AL645730;AMYH02000987;NG_032440 pseudo HGNC:42130 INFERRED 6482028 MTND2P12 MT-ND2 pseudogene 12 17 17 19507158 19508357 + 19603845 19605044 + 100873344 ABBA01054600;AC025627;AMYH02033169;NG_032424 pseudo HGNC:42113 INFERRED 6482032 MTND2P15 MT-ND2 pseudogene 15 10 10 71353776 71354688 - 69594020 69594932 - 100873346 ABBA01019610;AL450311;AMYH02023273;NG_032427 pseudo HGNC:42116 INFERRED 4110017 MTND2P3 MT-ND2 pseudogene 3 Y Y Y p11.2 980990 981459 - 8240282 8240751 + 8372241 8372710 + 9847074 100499457 AC025731;NG_023505 APPROVED pseudo HGNC:38727 INFERRED 6482139 MTND2P30 MT-ND2 pseudogene 30 1 1 81546463 81546861 + 81080778 81081176 + 100873234 ABBA01074356;AL592524;AMYH02001347;NG_032441 pseudo HGNC:42131 INFERRED 6482144 MTND2P31 MT-ND2 pseudogene 31 4 4 14507488 14508103 - 14505864 14506479 - 100873235 ABBA01032550;AC093846;AMYH02008787;NG_032442 pseudo HGNC:42132 INFERRED 6482149 MTND2P33 MT-ND2 pseudogene 33 4 4 156382791 156383818 - 155461639 155462666 - 100873236 ABBA01070168;AC097526;AMYH02010340;NG_032443 pseudo HGNC:42134 INFERRED 6482146 MTND2P32 MT-ND2 pseudogene 32 8 8 32872787 32874561 + 33015269 33017043 + 100873237 ABBA01023618;AC090204;AMYH02017760;NG_032444 pseudo HGNC:42139 INFERRED 6482165 MTND2P5 MT-ND2 pseudogene 5 7 7 141502270 141503287 - 141802470 141803487 - 100873176 ABBA01034110;AC004979;AMYH02016923;NG_032420 pseudo HGNC:42106 INFERRED 6482170 MTND2P7 MT-ND2 pseudogene 7 8 8 134766982 134767692 + 133754739 133755449 + 100873179 ABBA01014195;AC090821;AMYH02018813;NG_032446 pseudo HGNC:42141 INFERRED 6482167 MTND2P6 MT-ND2 pseudogene 6 7 7 57254121 57255155 + 57186414 57187448 + 100873177 ABBA01028299;AC099654;AMYH02015777;NG_032421 pseudo HGNC:42107 INFERRED 6482164 MTND2P4 MT-ND2 pseudogene 4 7 7 63570925 63571928 - 64110547 64111550 - 100873175 ABBA01027970;AC115220;AMYH02015848;NG_032419 pseudo HGNC:42105 INFERRED 6482171 MTND2P8 MT-ND2 pseudogene 8 9 9 81356638 81357660 - 78741722 78742744 - 100873178 ABBA01033950;AL592047;AMYH02021051;NG_032422 pseudo HGNC:42109 INFERRED 6482116 MTND3P1 MT-ND3 pseudogene 1 13 13 22687258 22687477 - 22113119 22113338 - 100873208 ABBA01068615;AL136962;AMYH02027673;NG_032362 pseudo HGNC:39856 INFERRED 6482168 MTND3P2 MT-ND3 pseudogene 2 7 7 63566032 63566373 - 64105654 64105995 - 100873180 ABBA01027970;AC115220;AMYH02015848;NG_032447 pseudo HGNC:42142 INFERRED 6482145 MTND3P10 MT-ND3 pseudogene 10 2 2 120970523 120970851 + 120212947 120213275 + 100873239 ABBA01045917;AC012363;AMYH02004660;NG_032452 pseudo HGNC:42150 INFERRED 6482169 MTND3P4 MT-ND3 pseudogene 4 9 9 104555739 104556017 - 101793457 101793735 - 100873181 ABBA01042870;AL133413;AMYH02021355;NG_032448 pseudo HGNC:42144 INFERRED 6482172 MTND3P6 MT-ND3 pseudogene 6 3 3 106615324 106615659 - 106896477 106896812 - 100873182 ABBA01061716;AC063927;AMYH02007378;NG_032449 pseudo HGNC:42146 INFERRED 6482175 MTND3P7 MT-ND3 pseudogene 7 3 3 165878561 165878902 - 166160773 166161114 - 100873183 ABBA01058741;AC104629;AMYH02008076;NG_032450 pseudo HGNC:42147 INFERRED 6482097 MTND3P8 MT-ND3 pseudogene 8 1 1 235705057 235705392 - 235541757 235542092 - 100873185 ABBA01033139;AL672238;AMYH02002947;FO393422;NG_032453 pseudo HGNC:42153 INFERRED 6482119 MTND4P1 MT-ND4 pseudogene 1 13 13 85094365 85095654 + 84520230 84521519 + 100873211 ABBA01021747;AL445195;AMYH02028392;NG_032393 pseudo HGNC:42035 INFERRED 6482051 MTND4P11 MT-ND4 pseudogene 11 1 1 94388131 94389113 - 93922575 93923557 - 100873255 ABBA01045517;AL117351;AMYH02001506;NG_032480 pseudo HGNC:42223 INFERRED 5133610 MTND4P12 MT-ND4 pseudogene 12 5 5 q31.1 134262351 134263726 - 134926661 134928036 - 100293090 ABBA01068732;AC008670;AMYH02012253;NG_029205 1773308 A007G12 pseudo HGNC:42199 INFERRED 6480187 MTND4P13 MT-ND4 pseudogene 13 6 6 q25.2 153990014 153990961 + 153668879 153669826 + 100862853 ABBA01025606;AL603908;AMYH02014756;NG_032145 pseudo HGNC:42222 INFERRED 6482092 MTND3P9 MT-ND3 pseudogene 9 2 2 143856053 143856388 - 143098484 143098819 - 100873184 ABBA01028072;AC013437;AMYH02004913;NG_032451 pseudo HGNC:42149 INFERRED 6482052 MTND4P10 MT-ND4 pseudogene 10 1 1 235703345 235704716 - 235540045 235541416 - 100873256 ABBA01033138;ABBA01033139;AL672238;AMYH02002947;FO393422;NG_032481 pseudo HGNC:42225 INFERRED 6482095 MTND3P3 MT-ND3 pseudogene 3 4 4 156377924 156378259 - 155456772 155457107 - 100873187 ABBA01070168;AC097526;AMYH02010340;NG_032455 pseudo HGNC:42155 INFERRED 6482096 MTND3P5 MT-ND3 pseudogene 5 4 4 25721721 25722053 - 25720099 25720431 - 100873186 ABBA01032706;AC092436;AMYH02008915;NG_032454 pseudo HGNC:42154 INFERRED 5488828 MTND4P14 MT-ND4 pseudogene 14 9 9 p24.1 5107937 5109290 + 5107937 5109290 + 100653489 ABBA01065417;AL161450;AMYH02019083;NG_029701 pseudo HGNC:42201 INFERRED 6482151 MTND4P15 MT-ND4 pseudogene 15 9 9 94873147 94874114 + 92110865 92111832 + 100873240 ABBA01018582;AL354751;AMYH02021218;NG_032462 pseudo HGNC:42202 INFERRED 6482035 MTND4P19 MT-ND4 pseudogene 19 10 10 96523183 96534385 - 94763426 94774628 - 100873351 ABBA01021845;AL583836;AMYH02023576;NG_008384;NG_032466 pseudo HGNC:42206 INFERRED 6482148 MTND4P17 MT-ND4 pseudogene 17 3 3 165877802 165877963 - 166160014 166160175 - 100873242 ABBA01058741;AC104629;AMYH02008076;NG_032464 pseudo HGNC:42204 INFERRED 6482039 MTND4P18 MT-ND4 pseudogene 18 10 10 36723619 36724102 - 36434691 36435174 - 100873350 ABBA01033323;AL590730;AMYH02022640;NG_032465 pseudo HGNC:42205 INFERRED 6482150 MTND4P16 MT-ND4 pseudogene 16 3 3 106613198 106614565 - 106894351 106895718 - 100873241 ABBA01061716;AC063927;AMYH02007378;NG_032463 pseudo HGNC:42203 INFERRED 6482099 MTND4P2 MT-ND4 pseudogene 2 7 7 63564471 63565673 - 64104093 64105295 - 100873188 ABBA01027970;AC115220;AMYH02015848;NG_032457 pseudo HGNC:42189 INFERRED 6482040 MTND4P20 MT-ND4 pseudogene 20 10 10 96700061 96701252 - 94940304 94941495 - 100873352 ABBA01021845;AL359672;AMYH02023577;AMYH02023578;NG_032467 pseudo HGNC:42207 INFERRED 6482635 MTND2P9 MT-ND2 pseudogene 9 9 9 q21.31 83179950 83180881 - 80565035 80565966 - 100884155 ABBA01033962;AL160267;AMYH02021070;NG_032653 pseudo HGNC:42110 INFERRED 6482152 MTND4P21 MT-ND4 pseudogene 21 2 2 132129882 132131223 - 131372309 131373650 - 100873243 ABBA01028239;AC073869;AMYH02004808;NG_032468 pseudo HGNC:42208 INFERRED 6482045 MTND4P22 MT-ND4 pseudogene 22 2 2 143854331 143855694 - 143096762 143098125 - 100873244 ABBA01028072;AC013437;AMYH02004913;NG_032469 pseudo HGNC:42209 INFERRED 6482041 MTND4P23 MT-ND4 pseudogene 23 2 2 202078016 202079383 - 201213293 201214660 - 100873245 ABBA01062536;AC007283;AMYH02005549;NG_032470 pseudo HGNC:42210 INFERRED 6482054 MTND4P24 MT-ND4 pseudogene 24 X X 125606868 125607266 + 126472885 126473283 + 100873254 AL359973;AMYH02040439;NG_032479 pseudo HGNC:42220 INFERRED 6482043 MTND4P25 MT-ND4 pseudogene 25 2 2 83042090 83042643 + 82814966 82815519 + 100873246 ABBA01075700;AC098817;AMYH02004144;NG_032471 pseudo HGNC:42212 INFERRED 6482044 MTND4P26 MT-ND4 pseudogene 26 2 2 120971207 120972565 + 120213631 120214989 + 100873247 ABBA01045917;AC012363;AMYH02004660;NG_032472 pseudo HGNC:42213 INFERRED 6482049 MTND4P27 MT-ND4 pseudogene 27 2 2 131036309 131037668 + 130278736 130280095 + 100873248 ABBA01017954;AC068137;AMYH02004775;NG_032473 pseudo HGNC:42214 INFERRED 6482048 MTND4P28 MT-ND4 pseudogene 28 2 2 156167589 156167930 + 155311077 155311418 + 100873249 ABBA01004822;AC092662;AMYH02005022;NG_032474 pseudo HGNC:42215 INFERRED 6482047 MTND4P29 MT-ND4 pseudogene 29 2 2 202419107 202420756 + 201554384 201556033 + 100873250 ABBA01062542;AC007282;AMYH02005549;NG_032475 pseudo HGNC:42216 INFERRED 6482094 MTND4P3 MT-ND4 pseudogene 3 7 7 67731306 67731849 - 68266319 68266862 - 100873189 ABBA01064091;AC093655;AMYH02015937;NG_032458 pseudo HGNC:42190 INFERRED 6482050 MTND4P31 MT-ND4 pseudogene 31 X X 69347469 69348946 - 70127619 70129096 - 100873252 ABBA01067534;AL158141;AMYH02039655;NG_032477 pseudo HGNC:42218 INFERRED 6482046 MTND4P30 MT-ND4 pseudogene 30 2 2 203483320 203483574 + 202618597 202618851 + 100873251 ABBA01062580;AC009960;AMYH02005576;NG_032476 pseudo HGNC:42217 INFERRED 6482098 MTND4P4 MT-ND4 pseudogene 4 100873190 AC099654 pseudo HGNC:42191 6482056 MTND4P32 MT-ND4 pseudogene 32 X X 102054894 102056019 + 102799966 102801091 + 100873253 ABBA01020972;AL590407;AMYH02040161;NG_032478 pseudo HGNC:42219 INFERRED 6482101 MTND4P5 MT-ND4 pseudogene 5 7 7 57260402 57261774 + 57192695 57194067 + 100873191 ABBA01028300;AC099654;AMYH02015777;NG_032460 pseudo HGNC:42192 INFERRED 6482104 MTND4P6 MT-ND4 pseudogene 6 7 7 116903949 116904448 + 117263895 117264394 + 100873192 ABBA01057801;AC006326;AMYH02016636;NG_032461 pseudo HGNC:42193 INFERRED 6482105 MTND4P7 MT-ND4 pseudogene 7 8 8 13210906 13211117 - 13353397 13353608 - 100873195 ABBA01021625;AC019270;AMYH02017479;NG_032484 pseudo HGNC:42234 INFERRED 6482103 MTND4P8 MT-ND4 pseudogene 8 4 4 156376199 156377563 - 155455047 155456411 - 100873194 ABBA01070168;AC097526;AMYH02010340;NG_032483 pseudo HGNC:42227 INFERRED 6482114 MTND5P1 MT-ND5 pseudogene 1 21 21 45893621 45894956 - 44473738 44475073 - 100873206 ABBA01074169;AMYH02037914;AP001065;NG_032335 pseudo HGNC:39644 INFERRED 6482100 MTND4P9 MT-ND4 pseudogene 9 4 4 25719704 25721367 - 25718082 25719745 - 100873193 ABBA01032706;AC092436;AMYH02008915;NG_032482 pseudo HGNC:42226 INFERRED 5133628 MTND5P10 MT-ND5 pseudogene 10 5 5 q21.1 99382678 99384489 - 100046974 100048785 - 643031 ABBA01069177;AC113407;AMYH02011856;NG_027711 5023543;5094680;5094684 PMC55343P10;PMC55343P12;PMC55343P9 pseudo HGNC:42272 INFERRED 5133593 MTND5P11 MT-ND5 pseudogene 11 5 5 q31.1 134260338 134262149 - 134924648 134926459 - 100506169 ABBA01068732;AC008670;AMYH02012253;NG_029206 5023543;5094680;5094684 PMC55343P10;PMC55343P12;PMC55343P9 pseudo HGNC:42273 INFERRED 6482053 MTND5P12 MT-ND5 pseudogene 12 5 5 93903163 93904642 + 94567458 94568937 + 100873257 AC093311;AMYH02011811;NG_032488 pseudo HGNC:42274 INFERRED 6482069 MTND5P13 MT-ND5 pseudogene 13 4 4 65475152 65476799 - 64609434 64611081 - 100873272 ABBA01022865;AC097648;AMYH02009350;NG_032505 pseudo HGNC:42304 INFERRED 6482055 MTND5P14 MT-ND5 pseudogene 14 9 9 5109523 5110754 + 5109523 5110754 + 100873258 ABBA01065417;AL161450;AMYH02019083;NG_032489 pseudo HGNC:42276 INFERRED 6482061 MTND5P15 MT-ND5 pseudogene 15 3 3 176728207 176728834 - 177010419 177011046 - 100873259 ABBA01058592;AC023235;AMYH02008191;NG_032490 pseudo HGNC:42277 INFERRED 6482038 MTND5P17 MT-ND5 pseudogene 17 10 10 36721791 36723406 - 36432863 36434478 - 100873353 ABBA01033323;AL590730;AMYH02022640;NG_032491 pseudo HGNC:42279 INFERRED 6480186 MTND5P16 MT-ND5 pseudogene 16 3 3 106617736 106619432 + 106898889 106900585 + 100862854 ABBA01061716;AC063927;AMYH02007378;NG_032146 pseudo HGNC:42278 INFERRED 6482117 MTND5P2 MT-ND5 pseudogene 2 13 13 96344792 96346226 + 95692538 95693972 + 100873209 ABBA01027181;AL138955;AMYH02028524;NG_032375 pseudo HGNC:41919 INFERRED 6482066 MTND5P18 MT-ND5 pseudogene 18 1 1 238113042 238114803 - 237949742 237951503 - 100873271 ABBA01033189;AL590396;AMYH02002996;NG_008799;NG_032504 pseudo HGNC:42302 INFERRED 6482071 MTND5P20 MT-ND5 pseudogene 20 1 1 114119373 114119516 - 113576751 113576894 - 100873269 ABBA01068456;AL390759;AMYH02001771;NG_032502 pseudo HGNC:42300 INFERRED 6482068 MTND5P19 MT-ND5 pseudogene 19 1 1 235701351 235703112 - 235538051 235539812 - 100873270 ABBA01033138;AL672238;AMYH02002947;FO393422;NG_032503 pseudo HGNC:42301 INFERRED 6482042 MTND5P21 MT-ND5 pseudogene 21 11 11 11261402 11261722 + 11239855 11240175 + 100873354 ABBA01061150;AC084243;AMYH02024332;NG_032501 pseudo HGNC:42296 INFERRED 6482060 MTND5P22 MT-ND5 pseudogene 22 2 2 125438290 125438466 - 124680713 124680889 - 100873260 ABBA01032281;AC019159;AMYH02004711;NG_032492 pseudo HGNC:42284 INFERRED 6482062 MTND5P23 MT-ND5 pseudogene 23 2 2 132127887 132129657 - 131370314 131372084 - 100873261 ABBA01028239;AC073869;AMYH02004808;NG_032493 pseudo HGNC:42285 INFERRED 6482058 MTND5P24 MT-ND5 pseudogene 24 2 2 143852334 143854121 - 143094765 143096552 - 100873262 ABBA01028072;ABBA01028073;AC013437;AMYH02004913;NG_032494 pseudo HGNC:42286 INFERRED 6482063 MTND5P25 MT-ND5 pseudogene 25 2 2 202077019 202077792 - 201212296 201213069 - 100873263 ABBA01062536;AC007283;AMYH02005549;NG_032495 pseudo HGNC:42287 INFERRED 6482059 MTND5P27 MT-ND5 pseudogene 27 2 2 83042875 83044652 + 82815751 82817528 + 100873264 ABBA01075700;AC098817;AMYH02004144;NG_032496 pseudo HGNC:42289 INFERRED 6482065 MTND5P26 MT-ND5 pseudogene 26 X X 102059560 102061048 + 102804632 102806120 + 100873268 ABBA01020973;AL590407;AMYH02040161;NG_032500 pseudo HGNC:42295 INFERRED 5133609 MTND5P28 MT-ND5 pseudogene 28 2 2 q14.2 120972914 120974788 + 120215338 120217212 + 100505755 ABBA01045915;ABBA01045916;AC012363;AMYH02004660;NG_029210 1655306;2120976 D2S2885;RH12252 pseudo HGNC:42290 INFERRED 6482057 MTND5P29 MT-ND5 pseudogene 29 2 2 131037878 131039652 + 130280305 130282079 + 100873265 ABBA01017954;AC068137;AMYH02004775;NG_032497 pseudo HGNC:42291 INFERRED 6482118 MTND5P3 MT-ND5 pseudogene 3 13 13 85095941 85098041 + 84521806 84523906 + 100873210 ABBA01021747;AL445195;AMYH02028392;NG_032392 pseudo HGNC:42034 INFERRED 6482064 MTND5P30 MT-ND5 pseudogene 30 2 2 156168166 156169939 + 155311654 155313427 + 100873266 ABBA01004822;AC092662;AMYH02005022;NG_032498 pseudo HGNC:42292 INFERRED 6482110 MTND5P4 MT-ND5 pseudogene 4 4 4 17063501 17063788 + 17061878 17062165 + 100873200 ABBA01032598;AC110758;AMYH02008821;NG_032507 pseudo HGNC:42306 INFERRED 6482067 MTND5P31 MT-ND5 pseudogene 31 2 2 202421679 202422992 + 201556956 201558269 + 100873267 ABBA01062542;AC007282;AMYH02005549;NG_032499 pseudo HGNC:42293 INFERRED 6482109 MTND5P5 MT-ND5 pseudogene 5 4 4 102893579 102893959 + 101972422 101972802 + 100873201 ABBA01063695;AMYH02009811;AP002075;NG_032508 pseudo HGNC:42307 INFERRED 6482102 MTND5P6 MT-ND5 pseudogene 6 7 7 57238700 57240476 + 57170993 57172769 + 100873196 ABBA01028298;ABBA01028299;AC099654;AMYH02015776;NG_032485 pseudo HGNC:42268 INFERRED 6482108 MTND5P8 MT-ND5 pseudogene 8 7 7 112012702 112013778 + 112372647 112373723 + 100873198 ABBA01057848;AC004112;AMYH02016583;NG_032487 pseudo HGNC:42270 INFERRED 6482107 MTND5P7 MT-ND5 pseudogene 7 7 7 57262031 57263753 + 57194324 57196046 + 100873197 AC099654;AMYH02015777;NG_032486 pseudo HGNC:42269 INFERRED 6482106 MTND5P9 MT-ND5 pseudogene 9 4 4 156374206 156375966 - 155453054 155454814 - 100873199 ABBA01070168;AC097526;AMYH02010340;NG_032506 pseudo HGNC:42305 INFERRED 6482020 MTND6P21 MT-ND6 pseudogene 21 21 21 45892778 45893622 + 44472895 44473739 + 100873332 ABBA01074169;AMYH02037914;AP001065;NG_032332 pseudo HGNC:39639 INFERRED 4110707 MTND6P1 MT-ND6 pseudogene 1 Y Y Y p11.2 989733 990156 + 8231577 8232000 - 8363536 8363959 - 9847074 100499469 ABBA01060227;AC025731;NG_023537 APPROVED pseudo HGNC:38730 INFERRED 1348078 MTOHR mitochondrially encoded heavy strand origin of replication 4545 HGNC:7465 1343060 MTOLR mitochondrially encoded light strand origin of replication 4546 HGNC:7466 6481400 MTOR-AS1 MTOR antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 1 1 11203955 11209595 + 11143898 11149538 + 8554872 11329013 100873935 ABBA01003044;AL391561;AMYH02000283;BG198268;HG491690;HG491691;NG_033239;NR_046600 Hs.679133 RP11-99P18.1 APPROVED ncrna ENSG00000225602 HGNC:40242 VALIDATED 1322070 MTPAP mitochondrial poly(A) polymerase The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011] 10 10 10 p11.23 30363675 30403196 - 30598730 30638267 - 30309801 30349338 - 737633;6480464;7240710;8554872;8699517 12477932 12239557;14702039;15164054;15489334;15547249;15769737;16344560;16385451;16810331;17509149;18029348;18172165;18984674;19204726;19322201;20360068;20379614;20877624;20970105;21139048;21292163;21903422;21906983;21963094;23473034;24816145;8125298 55149 Q5T851;Q5T852;Q9NVV4 AB194709;ABBA01034348;ABBA01034349;ABBA01034350;AK001348;AK022188;AK125211;AL161651;AL353796;AMYH02022559;AY364242;BC061703;CH471072;DA086747;NG_028096;NM_018109 AAH61703;AAQ76801;BAA91641;BAB13981;BAD98252;EAW86014;EAW86015;NP_060579;Q9NVV4 Hs.173946 1676972;2119960;2139434;2154856;2157323;2219450;5014051;5015861;5017170;5020946;5024039;5024413;5037552;5109281;7185938 D10S16;D16S325;D1S1425;D8S2278;D8S2279;L17877;L17971;L29953;PAPD1__5824;RH44699;RH93834;SHGC-56580;STS-R05306;STS-T71331 FLJ10486;PAPD1;RP11-305E6.3;SPAX4 OTTHUMP00000019397;PAP associated domain containing 1;PAP-associated domain-containing protein 1;TUTase 1;poly(A) RNA polymerase, mitochondrial;polynucleotide adenylyltransferase;terminal uridylyltransferase 1 APPROVED protein-coding ENSG00000107951 HGNC:25532 15097 613669;613672 REVIEWED 1352571 MTNR1A melatonin receptor 1A This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [provided by RefSeq, Jul 2008] 4 4 4 q35.1 184775494 184797420 - 187454809 187476537 - 186533655 186555383 - 1580863;6480464;8554872 10471411;10531408;10598579;10612428;1144527;11448873;11606436;11841602;11897804;11940583;12088876;12477932;12767050;12973153;14675129;15266022;15489334;16098099;16778767;17072839;17215244;17349020;17645699;17803522;18067741;18341518;18378672;18452558;18577758;18794763;18979234;19001515;19184136;19913121;20050373;20110911;20372918;20377855;20628086;20657642;20726823;21474908;21497337;21526376;21552555;21615493;21635358;21652546;21809392;21818375;21994366;22017484;22138747;22217986;22686298;23155241;23250547;23333399;23725077;24117008;24157813;24724723;2834384;7558006;7946354;8700109;8988899;9645677 4543 H0Y8X5;P48039 AB029933;ABBA01070563;ABBA01070564;ABBA01070565;AC110761;AF085498;AF435588;AMYH02010680;BC074946;BC074947;BC113816;BC126297;BC126299;CH471056;EU432127;NM_005958;U14108 AAB17720;AAH74946;AAH74947;AAI13817;AAI26298;AAI26300;AAL30809;ABY87926;ADR83132;BAA85303;EAX04617;NP_005949;P48039 Hs.243467 1649853;1796368;2145082;5492361 D4S2827;MARC_9493-9494:997213710:1;MTNR1A__1188;SHGC-50590 MEL-1A-R;MT1 OTTHUMP00000218000;mel1a receptor;melatonin receptor type 1A APPROVED protein-coding ENSG00000168412 HGNC:7463 02812 600665 REVIEWED 1318828 MTO1 mitochondrial tRNA translation optimization 1 This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q13 74565658 74605390 + 74171454 74211179 + 73461731 73501456 + 6480464;8699517;8554872;7240710 10810093;12011058;12477932;12939650;14574404;15489334;15509579;15542390;15901843;18391568;19209188;19338775;20877624;21890473;21906983;21963094;22505724;22608499;23455924;23929671;24160266;8125298 25821 E5RFF7;E7EWI1;E7EWX0;E9PHR8;H0YB81;H0YBI9;H0YC00;H7C2S9;Q9Y2Z2 ABBA01040319;ABBA01040320;ABBA01040321;ABBA01040322;ABBA01040323;ABBA01040324;ABBA01040325;AF132937;AF319422;AF442963;AF469110;AF469111;AJ420530;AK026073;AK074625;AK225828;AL603910;AL833823;AMYH02013910;AMYH02013911;AMYH02013912;AY078985;AY078986;AY947716;BC005808;BC011051;BE501391;CH471051;CQ783513;DN993156;KF458202;NG_032856;NM_001123226;NM_012123;NM_133645;XM_006715444;XM_006715445;XM_006715446;XM_006715447;XM_006715448;XM_006715449 AAD27712;AAG42814;AAH05808;AAH11051;AAL35894;AAL82394;AAL82395;AAL85490;AAL85491;AAY51628;BAG51977;CAD38685;CAF86693;EAW48760;EAW48761;EAW48762;EAW48763;EAW48764;EAW48765;EAW48766;EAW48767;EAW48768;NP_001116698;NP_036255;NP_598400;Q9Y2Z2;XP_006715507;XP_006715508;XP_006715509;XP_006715510;XP_006715511;XP_006715512 Hs.347614 1802386;1806658;1809800;1810954;1817026;1827836;1829732;1832182;1834510;1834584;1835280;1835322;1835658;1836374;1837536;1839276;1839626;1839680;1844264;1845124;1845242;1845762;1846378;1924132;1924134;1924136;1924138;1924140;1924142;1924144;1924146;1924148;1924150;1924152;1924154;1924156;1924158;1924160;1924162;1924164;1924166;1924168;1924170;1924172;1924174;1924176;1924178;1924180;1924182;1924184;1924186;1924188;1924190;1924192;1924194;1924196;1924198;1924200;1924202;1924204;1924206;1924208;1924210;1924212;1924214;1924216;1924218;1924220;1924222;1924224;1924226;1924228;1924230;1924232;1924234;1924236;1924238;1924240;1924242;1924244;1924246;1924248;1924250;1924252;1924254;1924256;1924258;1924260;1924262;1924264;1924266;1924268;1924270;1924272;1924274;1924276;1924278;1924280;1924282;1924284;1924286;1924288;1924290;1924292;1924294;1924296;1924298;1924300;1924302;1924304;1924306;1924308;1924310;1924312;1924314;1924316;1924318;1924320;1924322;1924324;1924326;1924328;1924330;1924332;1924334;1924336;1924338;1924340;1924342;1924344;1924346;1924348;1924350;1924352;1924354;1924356;1924358;1924360;1924362;1924364;1924366;1924368;1924370;1924372;1924374;1924376;1924378;1924380;1924382;1924384;1924386;1924388;1924390;1924392;1924394;1924396;1924398;1924400;1924402;1924404;1924406;1924408;1924410;1924412;1924414;1924416;1924418;1924420;1924422;1924424;1924426;1924428;1924430;1924432;2110583;2169862;2207362;2207364;2207366;2207368;2207370;2207372;2207374;2207376;2207378;2207380;2207382;2207384;2207386;2207388;2207390;2207392;2207394;2207396;2207398;2207400;2207402;2207404;2207406;2207408;2207410;2207412 ECD02078;ECD04286;ECD05892;ECD06475;ECD09562;ECD15041;ECD15998;ECD17229;ECD18403;ECD18440;ECD18795;ECD18816;ECD18986;ECD19349;ECD19935;ECD20818;ECD20996;ECD21023;ECD23346;ECD23779;ECD23838;ECD24100;ECD24409;MTO1__6176.2;REN32891;REN32892;REN32893;REN32894;REN32895;REN32896;REN32897;REN32898;REN32899;REN32900;REN32901;REN32902;REN32903;REN32904;REN32905;REN32906;REN32907;REN32908;REN32909;REN32910;REN32911;REN32912;REN32913;REN32914;REN32915;REN32916;REN32917;REN32918;REN32919;REN32920;REN32921;REN32922;REN32923;REN32924;REN32925;REN32926;REN32927;REN32928;REN32929;REN32930;REN32931;REN32932;REN32933;REN32934;REN32935;REN32936;REN32937;REN32938;REN32939;REN32940;REN32941;REN32942;REN32943;REN32944;REN32945;REN32946;REN32947;REN32948;REN32949;REN32950;REN32951;REN32952;REN32953;REN32954;REN32955;REN32956;REN32957;REN32958;REN32959;REN32960;REN32961;REN32962;REN32963;REN32964;REN32965;REN32966;REN32967;REN32968;REN32969;REN32970;REN32971;REN32972;REN32973;REN32974;REN32975;REN32976;REN32977;REN32978;REN32979;REN32980;REN32981;REN32982;REN32983;REN32984;REN32985;REN32986;REN32987;REN32988;REN32989;REN32990;REN32991;REN32992;REN32993;REN32994;REN32995;REN32996;REN32997;REN32998;REN32999;REN33000;REN33001;REN33002;REN33003;REN33004;REN33005;REN33006;REN33007;REN33008;REN33009;REN33010;REN33011;REN33012;REN33013;REN33014;REN33015;REN33016;REN33017;REN33018;REN33019;REN33020;REN33021;REN33022;REN33023;REN33024;REN33025;REN33026;REN33027;REN33028;REN33029;REN33030;REN33031;REN33032;REN33033;REN33034;REN33035;REN33036;REN33037;REN33038;REN33039;REN33040;REN33041;STS-H47623;stSG625909;stSG625910;stSG625911;stSG625912;stSG625913;stSG625914;stSG625915;stSG625917;stSG625918;stSG625919;stSG625920;stSG625921;stSG625922;stSG625923;stSG625924;stSG625925;stSG625926;stSG625927;stSG625928;stSG625929;stSG625930;stSG625931;stSG625932;stSG625933;stSG625934;stSG625935 CGI-02;COXPD10 OTTHUMP00000016738;OTTHUMP00000016740;OTTHUMP00000063806;OTTHUMP00000224666;homolog of yeast Mto1;mitochondrial MTO1-3;mitochondrial translation optimization 1 homolog;protein MTO1 homolog, mitochondrial APPROVED protein-coding ENSG00000135297 HGNC:19261 17611 614667;614702 REVIEWED 1352853 MTRF1 mitochondrial translational release factor 1 The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008] 13 13 13 q14.1-q14.3 22847948 22895130 - 41790505 41837731 - 41216369 41263577 - 1580863;6480464;8554872 10773675;12477932;14702039;15057823;15489334;17803939;18429816;20598281;20877624;21097510;9838146 9617 O75570;Q8N6Z2;X6RFD4 AA573449;ABBA01021273;ABBA01021274;AF072934;AK055086;AK294343;AL354696;AMYH02027918;BC027731;BC038427;BC042196;BC065496;CA489782;CH471075;NM_004294;XM_005266599;XM_006719897;XM_006719898;XM_006719899;XM_006719900;XM_006719901;XR_429224 AAD12759;AAH27731;AAH42196;BAG51464;BAG57612;EAX08648;EAX08649;EAX08650;EAX08651;EAX08652;EAX08653;NP_004285;O75570;XP_005266656;XP_006719960;XP_006719961;XP_006719962;XP_006719963;XP_006719964 Hs.382176 1736330;5037552 D13S832E;D8S2279 MGC47721;MRF-1;MRF1;MTTRF1;RF1;mtRF-1 OTTHUMP00000018315;OTTHUMP00000018316;mitochontrial peptide chain release factor 1;peptide chain release factor 1, mitochondrial APPROVED protein-coding ENSG00000120662 HGNC:7469 06855 604601 REVIEWED 1603905 MTPN myotrophin The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008] 7 7 7 q33 130348855 130399560 - 135611503 135662204 - 135926755 135977456 - 6480464 10329199;11076863;11230166;11256614;11474205;11971907;12031792;12477932;12488317;12690205;12853948;14702039;15489334;15489336;1633812;16344560;16381901;16895918;16982933;17353931;19322201;20936779;21890473;21906983;22505724;22863883;22939629;8428777;8508536;8576259 136319 C9JL85;P58546;Q69YG1 ABBA01001128;ABBA01001129;AC015987;AF106075;AK055660;AK056225;AK309816;AL110137;AL834231;AMYH02016827;AMYH02016828;AY611627;BC028093;BC034722;CB530008;CH236950;CH471070;DA325130;NM_145808 AAH28093;AAP97226;AAU14892;BAG51651;CAD38909;CAL38094;CAL38144;EAL24056;EAW83859;EAW83860;NP_665807;P58546 Hs.602015 FLJ31098;FLJ99857;GCDP;V-1 OTTHUMP00000208354;granule cell differentiation protein APPROVED protein-coding ENSG00000105887 HGNC:15667 07574 606484 REVIEWED 736711 MTNR1B melatonin receptor 1B This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008] 11 11 11 q21-q22 90007400 90020560 + 92702789 92715948 + 92969623 92982782 + 1580863;6480464;7240710;8554872 10612428;10696804;11606436;11940583;12088876;12477932;12767050;15266022;15489334;15913560;16098099;16778767;17108395;17215244;17316165;17632395;18001530;18341518;18363673;18544139;18577758;19001515;19060907;19060908;19060909;19060910;19088850;19184136;19241057;19324937;19324940;19455304;19502414;19533084;19651812;19741166;19808892;19833888;19933996;19937311;20050988;20081858;20110911;20185807;20200315;20207350;20377855;20398260;20490451;20536959;20581827;20597807;20628598;20657642;20668700;20712903;20726823;20733416;20802253;20858683;20879858;20889853;20959387;21036910;21059861;21228692;21308753;21353709;21366812;21380592;21470412;21515849;21558052;21658282;21701235;21809392;21909109;22017484;22096510;22138747;22233651;22286214;22286219;22399527;22450346;22508271;22581228;22686298;22698518;22754043;22759724;22768333;23226241;23251661;23333399;23575436;23611530;23719583;23761423;23798576;23840762;23903356;24117008;24157813;24335056;7568007;8647286;8988899 4544 E9PR36;H0YDG4;P49286 AB033598;ABBA01040054;AF467654;AMYH02025352;AP002371;AP003171;AY521019;BC069163;CH471065;NG_028160;NM_005959;U25341 AAC50612;AAH69163;AAL75503;AAS00461;BAA92315;EAW66891;NP_005950;P49286 Hs.569039 2129586;2218570 MTNR1B_4132;RH18021 FGQTL2;MEL-1B-R;MT2 OTTHUMP00000235800;mel1b receptor;melatonin receptor MEL1B;melatonin receptor type 1B APPROVED protein-coding ENSG00000134640 HGNC:7464 02882 125853;600804 REVIEWED 8657172 MTRF1LP2 mitochondrial translational release factor 1-like pseudogene 2 8 8 8 q24.21 126919132 126919671 + 130741014 130741553 + 129728768 129729307 + 100130376 ABBA01037970;AC022849;AC103718;AMYH02018778;NG_022437 pseudo HGNC:50612 INFERRED 4105540 MTRNR2L11 MT-RNR2-like 11 (pseudogene) 1 1 1 q43 211356516 211358005 - 238107024 238108513 - 237943724 237945213 - 11371646;12009529;19477263 100463489 S4R3Y5 ABBA01033187;AL590396;AMYH02002996;NG_008799;NG_023152 HN11 APPROVED pseudo HGNC:37168 VALIDATED 4105536 MTRNR2L10 MT-RNR2-like 10 FOUND IN cytoplasm (inferred); extracellular region (inferred) X X X p11.21 59042982 59044102 - 55207824 55208944 - 55181391 55182511 - 11371646;12009529;12732850;15772651;19477263;19623253;20542501;23402768 100463488 P0CJ77 ABBA01069557;AL158819;AMYH02039497;NM_001190708 NP_001177637;P0CJ77 Hs.722730 HN10 MT-RNR2-like protein 10;MTRNR2-like 10;humanin 10;humanin-like 10;humanin-like protein 10 protein-coding HGNC:37167 VALIDATED 8657173 MTRF1LP1 mitochondrial translational release factor 1-like pseudogene 1 11 11 11 q23.2 110735361 110736025 + 113582442 113583106 + 113711720 113712384 + 100132520 ABBA01039782;AMYH02025595;AP002436;NG_021834 pseudo HGNC:50611 INFERRED 4105534 MTRNR2L12 MT-RNR2-like 12 3 3 q11.2 96336030 96337067 - 96617186 96618223 - 11371646;12009529;19477263 100463498 P0DMP1 ABBA01026947;AC117444;AMYH02007276;NG_023159 P0DMP1;S4R3P1 1735226;5023539 D3S2893E;PMC316374P5 HN12 APPROVED pseudo HGNC:37169 VALIDATED 4105738 MTRNR2L1 MT-RNR2-like 1 FOUND IN cytoplasm (inferred); extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; arsenous acid; diarsenic trioxide 17 17 p11.2 22022437 22023991 + 22523111 22524665 + 6480464 11371646;12009529;12670303;12732850;16583711;16625196;19477263;19623253;20542501;21935731;22010475;23402768 100462977 P0CJ68 AC131055;AC132825;AMYH02033202;NM_001190452 NP_001177381;P0CJ68 Hs.740185 HN1 MT-RNR2-like protein 1;MTRNR2-like 1;humanin 1;humanin-like 1;humanin-like protein 1 protein-coding ENSG00000256618 HGNC:37155 VALIDATED 1316759 MTRF1L mitochondrial translational release factor 1-like The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] 6 6 6 q25-q26 154042070 154057593 - 153308400 153323925 - 152987265 153002790 - 6480464 11256614;12477932;14702039;16344560;17207965;17803939;18429816;18541145;18978678;20598281;20877624;21906983;23535732;8125298 54516 Q5TF45;Q9UGC7;X6RKB4 ABBA01025614;AI434611;AI479199;AI628793;AK001037;AK027684;AK095240;AK225321;AK225970;AK290662;AK297671;AL049992;AL080276;AMYH02014748;AX877179;BC011873;BC014428;BC105973;BU853336;BX105260;BX376520;CH471051;DA152954;KF458329;NM_001114184;NM_001301047;NM_001301870;NM_001301871;NM_001301872;NM_019041;NR_126056;XM_005267035;XM_005267036;XM_005267037;XR_245540 AAH11873;AAH14428;AAI05974;ADQ32364;BAB55295;BAF83351;BAG53012;BAG60033;CAE89607;EAW47712;EAW47713;EAW47714;EAW47715;EAW47716;NP_001107656;NP_001287976;NP_001288799;NP_001288800;NP_001288801;NP_061914;Q9UGC7;XP_005267092;XP_005267093;XP_005267094 Hs.225836;Hs.304818;Hs.732132 1664299;1685209;1687776;2126444;2156949;2156951 G31005;RH40925;RH46684;RH46856;SHGC-31292;SHGC-64052 HMRF1L;MGC102748;MRF1L;mtRF1a OTTHUMP00000017455;OTTHUMP00000017456;OTTHUMP00000017457;OTTHUMP00000017458;mitochondrial release factor 1 like;peptide chain release factor 1-like, mitochondrial APPROVED protein-coding ENSG00000112031 HGNC:21051 17613 613542 VALIDATED 731933 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] 1 1 1 q43 210207757 210316611 + 236958581 237067281 + 236795281 236903981 + 1581049;1581050;1302512;1601425;1580863;1359026;1300048;2317118;2317120;5508202;6480464;6907045;7240710;6893521;7207079;7207085;7242425;7242426;7242557;7242562;7207081;7387225;8554872;8699517;8694080;8694081;8694083 12068375;12375236;14646334;15202865;15845641;16737574;16778415;18843018;18936199;19440165;19837268;20310006;20814827;21385350;21737517;21818837;22108709;22353665;23073625 10791559;11074217;11074524;11186937;11204591;11257268;11342450;11584084;11592436;11672761;11684547;11920232;12015064;12020105;12091127;12111380;12154064;12164325;12372672;12477932;12482550;12642343;12648076;12649067;12670934;12716294;12810988;12855226;12876480;12893022;12923861;12964809;14684825;14702039;14744749;14760703;14977639;15044114;15098482;15111988;15117811;15138479;15148588;15159311;1516297;1517041;15198953;15201366;15205694;15354395;15514969;15551285;15598777;15612980;15719048;15790587;15797993;15820491;1583909;15866085;15889417;15894670;15979034;16006998;16013960;16051610;16051637;16115349;16142417;16196087;16268464;16284371;16328059;16333305;16365025;16407418;16470748;16485733;16580699;16709328;16712703;16799656;16861746;16894458;16947783;16985020;17009228;17024475;17035141;17074544;17119065;17119116;17151928;17152488;17160942;17220339;17287836;17311259;17311260;17339646;17353931;17412799;17417062;17436311;17449906;17450230;17454638;17461517;17522601;17533396;17546637;17551576;17553479;17574963;17581676;17590289;17595805;17596206;17611986;17617021;17636160;17655928;17664238;17683808;17691219;17702010;17726616;17822659;17853476;17891500;17904392;17925002;17955473;17967524;17993766;18004208;18023275;18029348;18034637;18053808;18060320;18174236;18199722;18204969;18222012;18249021;18273817;18281142;18322994;18329006;18351371;18378576;18386810;18406541;18427977;18435414;18447718;18483342;18485163;18498768;18510611;18607581;18620331;18635682;18636124;18676680;18700049;18771981;18785313;18799873;18801628;18815869;18830263;18836720;18842806;18842997;18844488;18983896;18988749;18992148;18996879;19019492;19020309;19034339;19048631;19064578;19074750;19112534;19124508;19159907;19161160;19170196;19177501;19240236;19263808;19283448;19322201;19328558;19332728;19336370;19349296;19353223;19389261;19394322;19420105;19427504;19493349;19504454;19533788;19588544;19619240;19625176;19649727;19683694;19692168;19706843;19706844;19729796;19737740;19751277;19760026;19774638;19776626;19776634;19777601;19826453;19834535;19838916;19843671;19858780;19913121;19936946;19948975;20031554;20056620;20082058;20085490;20101025;20111902;20180013;20209990;20235210;20237949;20301503;20378615;20437058;20445573;20447924;20453000;20458436;20466634;20490431;20532609;20544798;20549016;20615890;20628086;20634891;20647221;20670920;2070814;20723587;20737570;20819778;20852008;20883119;20890936;20955826;20960050;21041608;21045269;21045271;21055808;21070756;21092627;21139048;21349258;21567207;21603981;21605004;21643952;21774403;21775772;21780915;21890473;21906983;21947961;21956592;21963094;22005284;22053931;22236648;22339686;22407825;22453148;22470444;22505724;22719222;22797925;22803112;22855024;22863883;22939629;23155246;23266814;23415967;23425389;23430981;23438943;23459165;23489792;23593229;23595572;23602568;23613867;23818366;23824729;23825108;23845785;23864153;23954866;23986219;2407589;24103477;24150725;24166605;24816145;8968735;8968736;8968737;9013615;9242908;9587027;9683607 4548 B1ANE3;B4DFV0;B7ZLW7;Q99707 ABBA01033173;ABBA01033174;ABBA01033175;AK090487;AK125206;AK127317;AK294270;AK299904;AK307390;AL359185;AL359259;AMYH02002974;AY429553;BC015894;BC067276;BC130616;BC136440;BC144095;BC144097;BC144098;BX641132;CB241165;CH471098;DC377743;NG_008959;NM_000254;NM_001291939;NM_001291940;U71285;U73338;U75743;XM_005273141;XM_005273143;XM_005273145;XM_006711769;XM_006711770 AAB39704;AAB58906;AAC51188;AAI30617;AAI36441;AAI44096;AAI44098;BAG57561;BAG61745;CAE46059;EAW70066;EAW70067;NP_000245;NP_001278868;NP_001278869;Q99707;XP_005273198;XP_005273200;XP_005273202;XP_006711832;XP_006711833 Hs.498187 1670796;1754979;1755663;1761863;1773563;1853836;2117985;2148792;2154484;2163966;2170183;5092920 A009C16;AL009990;D1S1568;G32413;RH70474;SHGC-141923;SHGC-142509;SHGC-145811;SHGC-76574;SHGC-76575;SHGC-76580;STS-U73338 FLJ33168;FLJ43216;FLJ45386;HMAG;MS;cblG 5-methyltetrahydrofolate--homocysteine methyltransferase;5-methyltetrahydrofolate-homocysteine methyltransferase 1;OTTHUMP00000037964;cobalamin-dependent methionine synthase;methionine synthase;vitamin-B12 dependent methionine synthase APPROVED protein-coding ENSG00000116984 HGNC:7468 01136 156570;250940;601634 REVIEWED 4105737 MTRNR2L2 MT-RNR2-like 2 FOUND IN cytoplasm (inferred); extracellular region (inferred) 5 5 q14.1 79945819 79946854 - 80650000 80651035 - 11371646;12009529;12732850;15372022;19477263;19623253;20542501;23402768 100462981 P0CJ69 ABBA01062044;ABBA01062045;AC008434;AMYH02011673;NM_001190470 NP_001177399;P0CJ69 Hs.666077 1792356;2114875;5023539 PMC149466P1;PMC316374P5;WI-18379 HN2 MT-RNR2-like protein 2;MTRNR2-like 2;humanin 2;humanin-like 2;humanin-like protein 2 protein-coding HGNC:37156 VALIDATED 4105736 MTRNR2L3 MT-RNR2-like 3 FOUND IN cytoplasm (inferred); extracellular region (inferred) 20 20 20 q13.31 52673737 52675119 - 55933496 55934878 - 57358440 57359822 - 11371646;11780052;12009529;12732850;19477263;19623253;20542501;23402768 100462983 P0CJ70 ABBA01052924;AL109955;AL135939;AMYH02037352;NM_001190472 NP_001177401;P0CJ70 Hs.727477 HN3 MT-RNR2-like protein 3;MTRNR2-like 3;humanin 3;humanin-like 3;humanin-like protein 3 protein-coding ENSG00000256222 HGNC:37157 VALIDATED 4105667 MTRNR2L4 MT-RNR2-like 4 FOUND IN cytoplasm (inferred); extracellular region (inferred) 16 16 16 p13.3 3627815 3629045 - 3421053 3422283 - 3371053 3372283 - 11371646;12009529;12732850;15616553;19477263;19623253;20542501;23402768 100463285 P0CJ71 ABBA01026740;AC025283;AMYH02031289;NM_001190476 NP_001177405;P0CJ71 Hs.639648 5021872;5037552 D8S2279;sY3084 HN4 MT-RNR2-like protein 4;MTRNR2-like 4;humanin 4;humanin-like 4;humanin-like protein 4 protein-coding HGNC:37161 VALIDATED 4105538 MTRNR2L6 MT-RNR2-like 6 FOUND IN cytoplasm (inferred); extracellular region (inferred) 7 7 7 q34 137180882 137182276 + 142374131 142375525 + 142666299 142667693 + 11371646;12009529;12732850;12853948;19477263;19623253;20542501;23402768 100463482 P0CJ73 ABBA01034128;AC231380;AC239612;AC244472;NM_001190487 NP_001177416;P0CJ73 HN6 MT-RNR2-like protein 6;MTRNR2-like 6;humanin 6;humanin-like 6;humanin-like protein 6 protein-coding ENSG00000270672 HGNC:37163 VALIDATED 4105539 MTRNR2L7 MT-RNR2-like 7 FOUND IN cytoplasm (inferred); extracellular region (inferred) 10 10 10 p11.21 37661179 37662672 - 37890366 37891859 - 37601438 37602931 - 11371646;12009529;12732850;15164054;19477263;19623253;20542501;23402768 100288485 P0CJ74 ABBA01033299;AL121927;AMYH02022656;NM_001190489 NP_001177418;P0CJ74 Hs.727092 HN7 MT-RNR2-like protein 7;MTRNR2-like 7;humanin 7;humanin-like 7;humanin-like protein 7 protein-coding ENSG00000256892 HGNC:37164 VALIDATED 4105537 MTRNR2L8 MT-RNR2-like 8 FOUND IN cytoplasm (inferred); extracellular region (inferred) 11 11 p15.3 10529434 10530723 - 10507887 10509176 - 11371646;12009529;12732850;16554811;19477263;19623253;20542501;23402768 100463486 P0CJ75 ABBA01061157;ABBA01061158;AC021914;AMYH02024327;NM_001190702 NP_001177631;P0CJ75 Hs.717003 1794558;2164672 NIB250;PMC31832P1 HN8 MT-RNR2-like protein 8;MTRNR2-like 8;humanin 8;humanin-like 8;humanin-like protein 8 protein-coding ENSG00000255823 HGNC:37165 VALIDATED 1343158 MTRNR3 mitochondrially encoded 5S-like sequence 4551 HGNC:7472 4105666 MTRNR2L5 MT-RNR2-like 5 FOUND IN cytoplasm (inferred); extracellular region (inferred) 10 10 10 q21.1 50621661 50623399 + 57358750 57360488 + 55598990 55600728 + 11371646;12009529;12732850;15164054;19477263;19623253;20542501;23402768;23726511 100463289 P0CJ72 ABBA01019412;AC074322;AMYH02023134;NM_001190478 NP_001177407;P0CJ72 Hs.727204 HN5 MT-RNR2-like protein 5;MTRNR2-like 5;humanin 5;humanin-like 5;humanin-like protein 5 protein-coding HGNC:37162 VALIDATED 1603934 MTSS1L metastasis suppressor 1-like ENCODES a protein that exhibits actin binding (inferred); cytoskeletal adaptor activity (inferred); SH3 domain binding (inferred); INVOLVED IN filopodium assembly (inferred); signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; ampicillin 16 16 16 q22.1 54809225 54829060 + 70695107 70719954 - 70661204 70686051 - 6480464;8554872 12477932;14752106;20875796 92154 H3BPV0;I3L2G4;Q765P7 AB115770;ABBA01010649;ABBA01010650;ABBA01010651;AC020763;AMYH02032308;AMYH02032309;AMYH02032310;BC002770;BC011452;BC024752;BC025271;BU859607;CH471241;NM_138383;XM_005256236;XM_006721335;XM_006721336 AAH02770;AAH24752;AAI56234;AAI72467;BAC98378;EAW51797;EAW51798;EAW51799;NP_612392;Q765P7;XP_005256293;XP_006721398;XP_006721399 Hs.432387 1662738;1737553;2161854;2180773 D16S2659;D16S3397;G35011;SHGC-61090 ABBA-1 MTSS1-like protein;actin-bundling protein with BAIAP2 homology;actin-bundling with BAIAP2 homology protein 1 protein-coding ENSG00000132613 HGNC:25094 14289 PROVISIONAL 1343796 MTTAS mitochondrially encoded termination associate sequence 4554 HGNC:7476 1347106 MTTER mitochondrially encoded transcription terminator 4557 HGNC:7480 1346953 MTTFH mitochondrially encoded transcription factor binding site H 4559 HGNC:7482 1345731 MTTFL mitochondrially encoded transcription factor binding site L 4560 HGNC:7483 4105535 MTRNR2L9 MT-RNR2-like 9 (pseudogene) FOUND IN cytoplasm (inferred); extracellular region (inferred) 6 6 q11.1 62284008 62284534 + 61574103 61574629 + 11371646;12009529;12732850;14574404;19477263;19623253;20542501;23402768 100463487 P0CJ76 ABBA01039499;AL356135;AMYH02013796;NM_001190706 NP_001177635;P0CJ76 HN9 MT-RNR2-like protein 9;MTRNR2-like 9;humanin 9;humanin-like protein 9 APPROVED protein-coding ENSG00000255633 HGNC:37166 VALIDATED 1354282 MTTFX mitochondrially encoded transcription factor binding site X 4561 HGNC:7484 1350819 MTTFY mitochondrially encoded transcription factor binding site Y 4562 HGNC:7485 1603878 MTURN maturin, neural progenitor differentiation regulator homolog (Xenopus) INVOLVED IN multicellular organismal development (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; calcitriol 7 7 7 p14.3 30163906 30191735 + 30174552 30202381 + 30134936 30162765 + 6480464 12477932;12690205;14702039;17213182;19322201;20379614;21139048;21832049;21890473;23000965;24250222;24681962;9847074 222166 C9JBT1;Q8N3F0 AACC02000087;ABBA01056812;AC007036;AK055466;AK096533;AK294982;AL834391;AMYH02015453;AY054121;BC045592;BC062423;BI560774;CH471073;DT217816;HG500158;NM_152793;XM_005249652 AAI52892;AAI56840;AAL14866;BAC04811;BAG58051;CAD39053;EAL24456;EAW93934;EAW93935;EAW93936;NP_690006;Q8N3F0;XP_005249709 Hs.200100 1651715;1659589;1672468;1677923;1679616;1727689;1774128;2131661;2153860 G63258;RH13728;RH28602;RH45752;RH45883;SHGC-31928;SHGC-53497;SHGC-56006;STS-H98629 AC007036.5;C7orf41;Ells1;FLJ25903 OTTHUMP00000158708;UPF0452 protein C7orf41;hypothetical protein LOC222166;maturin;maturin neural progenitor differentiation regulator protein homolog APPROVED protein-coding ENSG00000180354 HGNC:25457 07635 VALIDATED 68533 MTOR mechanistic target of rapamycin (serine/threonine kinase) The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008] 1 1 1 p36.2 10278903 10434848 - 11166588 11322614 - 11106531 11262557 - 1625616;1582609;1625611;1580863;2308795;2307383;6480464;6484113;6907045;7245507;7245526;7245508;7245567;7245474;7245506;7245940;7245946;7245564;7245502;7207420;7245504;7245545;8554872 15367823;16885148;17110594;17142137;17283580;19339977;21403644;21444868;21606597;21881486;22160773;22483544;22696604;22738385;23022334;23054313;23195001;23678040 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697;21412012;21422248;21428914;21428925;21430254;21440577;21444676;21454807;21458454;21460630;21460850;21464729;21471201;21501360;21510936;21512002;21513566;21531565;21532145;21541441;21548803;21555591;21559457;21567173;21576368;21577328;21606591;21609291;21631271;21659604;21665993;21667012;21673516;21681021;21696297;21701776;21702994;21707707;21707714;21718677;21725971;21734039;21738705;21744334;21757621;21763898;21763970;21763972;21768204;21785113;21793913;21795849;21802763;21821699;21822208;21822266;21832856;21837670;21859551;21861134;21874010;21886838;21887223;21890410;21890473;21898543;21900206;21906983;21914810;21926965;21931802;21933144;21939655;21941369;21943204;21949121;21949767;21949775;21963299;21963359;21965657;21971509;21973240;21980128;21981924;21987434;21987572;22007913;22015781;22017875;22017876;22017877;22024086;22024166;22025552;22029423;22031597;22045983;22053105;22094587;22105511;22127531;22142830;22148961;22199311;22214661;22216185;22223645;22248270;22248718;22253885;22258093;22268788;22285859;22285861;22287548;22320958;22328503;22338078;22339676;22340595;22343475;22343943;22349822;22354785;22356909;22367541;22369257;22399302;22399812;22408252;22409888;22424946;22441547;22452883;22455872;22457328;22457523;22469187;22471665;22483750;22493283;22504639;22505595;22505724;22509023;22509811;22544753;22549934;22556133;22556409;22562131;22570149;22576015;22586326;22595285;22607554;22612812;22619175;22619737;22620485;22627626;22648906;22674982;22684558;22685542;22696419;22696681;22729223;22752785;22753663;22761730;22768106;22797077;22813852;22815832;22826320;22833529;22840496;22841170;22863784;22863883;22863900;22871496;22886792;22895079;22895785;22898570;22899290;22902049;22907398;22907434;22920721;22924455;22944293;22952422;22955108;22956769;22958932;22960547;22967500;22977662;22983984;22987636;22989749;22990118;23000302;23022044;23027127;23027611;23027865;23035115;23061800;23064282;23080369;23084634;23091295;23095638;23103253;23107319;23110147;23115234;23150676;23160380;23162107;23165769;23167739;23169238;23173671;23178462;23184942;23209702;23216249;23246968;23276696;23277194;23283505;23284171;23291726;23296986;23297343;23297824;23297825;23318419;23322780;23325216;23332779;23337583;23340270;23348097;23363784;23375848;23383273;23395818;23400783;23412940;23416721;23423739;23426850;23434734;23440206;23444213;23444380;23451476;23454121;23464458;23524405;23524951;23530221;23536724;23541542;23544944;23549875;23555892;23573198;23585566;23592839;23601218;23614736;23623586;23626817;23632629;23636326;23660068;23671028;23684925;23686362;23686804;23691056;23693095;23697980;23720219;23722547;23728790;23734707;23762398;23773481;23795962;23797151;23798432;23811558;23828865;23832540;23841076;23863161;23867512;23871289;23872956;23878245;23878397;23883112;23886172;23898069;23911927;23913957;23916134;23933173;23940798;23941441;23953228;23956138;23963361;23979023;23983265;23991038;23991179;24006489;24011934;24018969;24022660;24023300;24027431;24052408;24059496;24067973;24073922;24078802;24088187;24088573;24098109;24112608;24122995;24164895;24180592;24203892;24204783;24205284;24239474;24243565;24247793;24263107;24270265;24285179;24289602;24312415;24323026;24334141;24337580;24349524;24350295;24353015;24357630;24403073;24418474;24419422;24457600;24462769;24480319;24481845;24496460;24508774;24512183;24531144;24571487;24582593;24583924;24585383;24597762;24615476;24623675;24624456;24630930;24648513;24650799;24658605;24666346;24667640;24675012;24682932;24683191;24687132;24735980;24755105;24762959;24774538;24780446;24781943;24816145;24875536;24887566;24899720;24918639;24948799;25043667;25054716;7539137;7809080;7822316;8008069;8083223;8660990;8662507;9092573;9099849;9405468;9434772;9465032;9653645 2475 B1AKP8;B1AKQ2;B4DZD5;P42345 AA725390;AB209995;ABBA01003042;ABBA01003043;ABBA01003044;ABBA01003045;AF152840;AJ300188;AK126762;AK302863;AK304273;AL049653;AL109811;AL359082;AL391561;AMYH02000283;AMYH02000284;AMYH02000285;AMYH02000286;AMYH02000287;BC117166;BP250183;CH471130;DC403129;JB157964;KF495866;L34075;L35478;NG_033239;NM_004958;U88966;XM_005263438;XM_005263439;XR_244786 AAA58486;AAC39933;AAC41713;AAI17167;BAE06077;BAG54371;BAG64047;BAG65134;CAC15570;CAC42395;CCW44092;EAW71681;EAW71682;EAW71683;NP_004949;P42345;XP_005263495;XP_005263496 Hs.338207 1648979;1653313;1682153;1696792;1722353;1722363;1732872;1754059;1783792;2126507;2130327;2175139;2183063;2191399 D1S1298;G60245;G60252;MARC_21302-21303:1032900670:1;RH25957;SHGC-12595;SHGC-132097;SHGC-132902;SHGC-56461;SHGC-74210;SHGC-74211;SHGC-74214;SHGC-74243;SHGC-79836 FLJ44809;FRAP;FRAP1;FRAP2;RAFT1;RAPT1 FK506 binding protein 12-rapamycin associated protein 1;FK506 binding protein 12-rapamycin associated protein 2;FK506-binding protein 12-rapamycin complex-associated protein 1;FKBP-rapamycin associated protein;FKBP12-rapamycin complex-associated protein 1;OTTHUMP00000001983;mammalian target of rapamycin;rapamycin and FKBP12 target 1;rapamycin associated protein FRAP2;rapamycin target protein 1;serine/threonine-protein kinase mTOR 1643585 SGHRL1_H APPROVED protein-coding ENSG00000198793 HGNC:3942 03134 601231 REVIEWED 1346037 MTUS2 microtubule associated tumor suppressor candidate 2 ENCODES a protein that exhibits microtubule binding; protein homodimerization activity; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centrosome; cytoplasmic microtubule; INTERACTS WITH N-acetyl-1,4-benzoquinone imine; silicon dioxide; valproic acid 13 13 13 q12.3 10674610 11155718 + 29394485 30080084 + 29024611 29505947 + 6480464;8554872 12477932;16189514;17207965;17704809;19060904;19543227;19806667;19901119;20379614;22558309;22754043;23251661;23595990;24722188;9872452 23281 J3KQA9;Q5JR59 AB018317;ABBA01035713;ABBA01035714;ABBA01035715;ABBA01035716;ABBA01035717;ABBA01035718;ABBA01035719;AK293970;AK301633;AK302516;AL160255;AL596092;AL596114;AL607144;AMYH02027775;AMYH02027776;AMYH02027777;AMYH02027778;AMYH02027779;BC032481;BC119654;BC119655;BC129985;BC150245;BM906724;BU788127;CH471075;NM_001033602;NM_015233 AAH32481;AAI19655;AAI19656;AAI29986;AAI50246;ADQ31667;BAA34494;BAG57342;BAG63116;BAG63792;EAX08439;EAX08440;NP_001028774;NP_056048;Q5JR59 Hs.22287 1652563;1660834;1674781;1723651;1729881;1736374;1755533;1852134;2111382;2111572;2111600 D13S120;D13S1486;D13S1527;D13S1543;D13S820E;D13S875E;RH118743;SHGC-142389;SHGC-32243;SHGC-34613;WI-13581 ICIS;KIAA0774;TIP150 +TIP of 150 kDa;CAZIP;OTTHUMP00000018187;OTTHUMP00000018188;cardiac zipper protein;microtubule plus-end tracking protein TIP150;microtubule-associated tumor suppressor candidate 2;tracking protein of 150 kDa APPROVED protein-coding ENSG00000132938 HGNC:20595 11108 VALIDATED 4105533 MTRNR2L13 MT-RNR2-like 13 4 4 4 q26 114512304 114513766 + 117220016 117221478 + 116298860 116300322 + 11371646;12009529;19477263 100463500 S4R3P1 ABBA01063859;ABBA01063860;AC024248;AMYH02009971;NG_023160 HN13 APPROVED pseudo HGNC:37170 VALIDATED 1320466 MTSS1 metastasis suppressor 1 ENCODES a protein that exhibits actin monomer binding; identical protein binding; receptor binding; INVOLVED IN cellular response to fluid shear stress (ortholog); epithelial cell proliferation involved in renal tubule morphogenesis (ortholog); glomerulus morphogenesis (ortholog); PARTICIPATES IN Hedgehog signaling pathway; FOUND IN actin cytoskeleton; INTERACTS WITH 17beta-estradiol; 2-methylcholine; 5-aza-2'-deoxycytidine 8 8 8 p22 121751140 121928858 - 125563025 125740730 - 124550770 124728507 - 1580863;6480464;6484113 12082544;12477932;12482861;12570871;14702039;14752106;15383276;15488640;15489334;15545630;15684034;16169070;16280553;16344560;16921485;17442377;19328678;20080650;20201926;20379614;20712855;21196400;21696600;21909138;21927027;21965727;22100162;22455847;22479308;22681717;22721729;23017832;23350348;23382691;23383207;23474751;23852458;24318128;24632752;8889548;9455477 9788 A5YM41;B7Z3B6;E5RJX3;E7EWW5;H0YAZ8;H0YB53;H0YBL3;O43312 AB007889;ABBA01037900;ABBA01037901;ABBA01037902;AC090198;AC090922;AF086645;AF116674;AI041104;AJ710067;AK027015;AK126651;AK126989;AK295681;AK302036;AK310792;AMYH02018719;BC023998;BU674412;CH471060;DA451172;DA790325;EF560715;KF458837;KF495754;NM_001282971;NM_001282974;NM_014751;U50573;XM_005251111;XM_005251113;XM_005251118;XM_006716700;XM_006716701;XM_006716702;XM_006716703;XM_006716704;XM_006716705;XM_006716706;XM_006716707 AAF15947;AAF71094;AAH23998;ABQ59025;BAA24859;BAC86629;BAC86779;BAH12152;BAH13614;EAW92069;EAW92070;EAW92071;EAW92072;EAW92073;EAW92074;NP_001269900;NP_001269903;NP_055566;O43312;XP_005251168;XP_005251170;XP_005251175;XP_006716763;XP_006716764;XP_006716765;XP_006716766;XP_006716767;XP_006716768;XP_006716769;XP_006716770 Hs.336994;Hs.700429 1338586;1645427;1653133;1664038;1672154;1675137;1675517;1731899;1759087;1850555;2129040;2145946;2154137;2155697;2178471;2182860;2184610;5093514 A008N08;A009Q06;D17S825E;D8S1357E;D8S1799;D8S2132;D8S58;G32763;RH18269;RH46386;RH46986;RH68595;RH69480;RH80990;SGC30260;SHGC-150814;STS-H91255;WI-21130 DKFZp781P2223;FLJ44694;KIAA0429;MIM;MIMA;MIMB OTTHUMP00000045859;OTTHUMP00000228225;OTTHUMP00000228306;metastasis suppressor YGL-1;metastasis suppressor protein 1;missing in metastasis protein protein-coding ENSG00000170873 HGNC:20443 12243 608486 VALIDATED 6481309 MTUS2-AS1 MTUS2 antisense RNA 1 13 13 q12.3 30050652 30061887 - 29476515 29487750 - 11181995;12477932 100874107 ABBA01035714;AL596114;AMYH02027779;BC027486;BI223246;CH471075;HG505487;NR_046378 EAX08442 Hs.577987 RP11-274A8.2 APPROVED ncrna HGNC:40924 VALIDATED 6481311 MTUS2-AS2 MTUS2 antisense RNA 2 q12.3 100874106 AL596092 APPROVED ncrna HGNC:40923 1351611 MTX1 metaxin 1 INVOLVED IN cellular protein metabolic process (inferred); protein targeting to mitochondrion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); mitochondrial outer membrane (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; isotretinoin 1 1 1 q21 128251772 128256908 + 155178490 155183625 + 155208699 155213834 + 1580863;6480464;8554872 10381257;11027586;11454742;12477932;15024629;15252450;15644312;17353931;17510655;17624330;18029348;20877624;21139048;21837367;21890473;21906983;21963094;22053931;22114354;22505724;22797727;22939629;23000965;23142642;7753840;8660965;9045676;9331372 4580 H0Y6Y5;Q13505 ABBA01016713;AC217785;AC234582;AF023268;AI241389;AK313863;AL713999;AMYH02001941;AX775989;BC001906;BC035616;BE394487;BG717732;BQ003402;BU552401;CF529296;CH471121;DQ786325;NM_002455;NM_198883;U46920;XM_006711338 AAC50490;AAC51819;AAH01906;BAG36591;CAE11694;EAW53105;EAW53106;EAW53107;EAW53108;NP_002446;NP_942584;Q13505;XP_006711401 Hs.490874 1693192;1767193;1850167;2119880;2155245 AL034327;D1S3500;G06424;RH69089;RH79053 MTX;MTXN OTTHUMP00000033824;OTTHUMP00000033825;OTTHUMP00000033826;metaxin-1;mitochondrial outer membrane import complex protein 1 protein-coding ENSG00000173171 HGNC:7504 11861 600605 VALIDATED 1350518 MTX1P1 metaxin 1 pseudogene 1 1 1 1 q22 128274042 128277502 + 155200767 155204242 + 155230976 155234451 + 7753840;8660965;9331372 4581 ABBA01016712;AC217785;AF023268;AL713999;AMYH02001941;NG_001160;U46921 1693192;1767193;1850167;2155245 AL034327;D1S3500;G06424;RH69089 MTX1P;MTXP;psMTX APPROVED pseudo HGNC:7505 INFERRED 1315110 MTX2 metaxin 2 The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009] 2 2 2 q31.1 170743298 170811933 + 177134123 177202753 + 176269395 176338025 + 1580863;6480464 10381257;12477932;14702039;15489334;17207965;17510655;17624330;20379614;20877624;21139048;21906983;22114354;22939629 10651 C9JAZ1;C9JNK6;F8WCW1;F8WE26;O75431 ABBA01062220;AC016739;AC073069;AF053551;AI991560;AK001287;AK289359;AK303564;AK315918;AMYH02005299;BC017271;BC067831;BC088359;BG699784;CH471058;NM_006554;NR_027850;XM_006712199 AAC25105;AAH17271;AAH67831;AAH88359;AAX93188;AAY14795;ADQ31976;BAF82048;BAG50886;BAG64587;BAH14289;EAX11076;EAX11077;EAX11078;NP_006545;O75431;XP_006712262 Hs.470728 2147280;5093608 A009S33;G32818 MGC111067 OTTHUMP00000163338;OTTHUMP00000205150;OTTHUMP00000205153;metaxin-2;mitochondrial outer membrane import complex protein 2 APPROVED protein-coding ENSG00000128654 HGNC:7506 09777 608555 REVIEWED 1601695 MTX3 metaxin 3 INVOLVED IN protein targeting to mitochondrion (inferred); FOUND IN mitochondrial outer membrane (inferred); INTERACTS WITH valproic acid; paracetamol (ortholog); phenobarbital (ortholog) 5 5 5 q14.1 75173880 75188429 - 79272539 79287088 - 79976716 79991265 - 6480464 12477932;14702039;15087125;21890473;21906983;23000965 345778 Q5HYI7 ABBA01062029;AC112184;AK091375;AK296864;AMYH02011659;AW957034;BC035085;BC150295;BQ128103;BX537790;BX538064;BX647596;CH471084;DB456588;NM_001010891;NM_001167741;XM_005248495 AAI60186;BAG59427;CAD97995;CAI46098;EAW95840;NP_001010891;NP_001161213;Q5HYI7;XP_005248552 Hs.531418 1678857;5024761;5037552;5109281 D1S1425;D8S2279;RH36905;RH98987 DKFZp686O1788 OTTHUMP00000222296;OTTHUMP00000222297;OTTHUMP00000222298;OTTHUMP00000223526;metaxin-3 protein-coding HGNC:24812 17614 VALIDATED 1346210 MUC10 mucin 10, submandibular gland salivary mucin 386748 BC042902 HGNC:23491 1348967 MUC11 mucin 11 1580863 10463611 10070 Q9UKN0 HGNC:7509 1318580 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Patients of the cbl-E complementation group of disorders of folate/cobalamin metabolism are defective in reductive activation of methionine synthase. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 5 5 5 p15.31 7910259 7942243 + 7851299 7901237 + 7869104 7901124 + 1581051;1580863;1359037;2325772;2317118;5508217;5508183;5508199;5508189;1302512;5490535;5508186;6480464;7240710;7242426;7242557;7244247;6893652;8554872;8699517 12375236;12590188;15612980;15714522;15979034;18483342;18774994;18843018;20814827;21070756;21615938;21947961;22108709;22179537 10444342;10484769;10500018;10564814;10791559;11472746;11592436;11806787;11807890;12020105;12416982;12477932;12482550;12555939;12642343;12649067;12716294;12801615;12807760;12810988;12855226;12876480;12923861;12939653;14632302;14652285;14716779;14967039;14977639;15059614;15135249;15159311;15216546;15347655;15354395;15489334;15514263;15514969;15797993;15866085;15889417;15894670;16006998;16013960;16115349;16268464;16316363;16351505;16470748;16485733;16575899;16580699;16769880;16820193;16861746;16894458;16947783;16985020;17009228;17024475;17035141;17074544;17079868;17087642;17101561;17113603;17119116;17136115;17152488;17220339;17311259;17311260;17376725;17417062;17436311;17454638;17461517;17477549;17522601;17533396;17546637;17553479;17554763;17581676;17596206;17611986;17636160;17655928;17822659;17853476;17892308;17904392;17925002;17934692;17967524;17993766;18004208;18023275;18029348;18034637;18061941;18174236;18199722;18204969;18221906;18222012;18226574;18249021;18257130;18378576;18386810;18427977;18435414;18485163;18510611;18515090;18590621;18607581;18610829;18614746;18635682;18676680;18682255;18700049;18771981;18774170;18785313;18792976;18830263;18836720;18842997;18936436;18978678;18983896;18988749;18992148;19019492;19020309;19035314;19048631;19064571;19064578;19074885;19112534;19161160;19170196;19254790;19263808;19322201;19336370;19336437;19339913;19348062;19353223;19394322;19427504;19460752;19461557;19493349;19533788;19625176;19657388;19692168;19706844;19729796;19737740;19760026;19774638;19776626;19776634;19777601;19812220;19837268;19843671;19852428;19858780;19913121;19936946;19948975;20031554;20047525;20056620;20082058;20085490;20099281;20120036;20140262;20180013;20209990;20301503;20373852;20378615;20386493;20411324;20437058;20447924;20453000;20458436;20466634;20511665;20544798;20549016;20615890;20628086;20634891;20647221;20718043;20726305;20737570;20852008;20883119;20888556;20948192;20955826;20960050;20962453;21041608;21045269;21055808;21092627;21139048;21204909;21211571;21349258;21438757;21472912;21547363;21603981;21774403;21775772;21780915;21906983;21987236;22005284;22057956;22097960;22236648;22339686;22373582;22475273;22479380;22665368;22706675;22719222;22796266;22813657;22863883;22864933;22925068;23039890;23094987;23225055;23266814;23372658;23425389;23430981;23459165;23959833;23986219;24130171;24334125;24589657;9501215 4552 D6RAY3;D6RAZ2;D6RF21;D6RGC7;D6RIS8;H0Y8S9;H0Y963;H0Y9D5;H0Y9Q0;Q9UBK8 ABBA01020576;AC010346;AC025174;AF025794;AF121213;AF121214;AK308442;AK311663;AMYH02010823;BC035977;BC054816;BC062577;BC109216;BC109217;CH471102;NG_008856;NM_002454;NM_024010;XM_006714474;XR_241702;XR_241703 AAC39667;AAF16876;AAF17303;AAF17304;AAH54816;AAI09217;EAX08090;EAX08091;EAX08092;EAX08093;NP_002445;NP_076915;Q9UBK8;XP_006714537 Hs.481551 1664089;1785402;1796370;1850037;1850039;2176273 A002A03;G19837;MTRR_214;RH11562;SHGC-143127;STS-N29717 MGC129643;MSR;cblE OTTHUMP00000115546;OTTHUMP00000220821;[methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing);methionine synthase reductase;methionine synthase reductase, mitochondrial APPROVED protein-coding ENSG00000124275 HGNC:7473 03979 236270;601634;602568 REVIEWED 1350619 MUC13 mucin 13, cell surface associated Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008] 3 3 3 q21.2 123031093 123060381 - 124624289 124653595 - 124905442 124934751 - 1302405;1580863;6480464;7364766;7349363 11278439;21155842;22768227 12507512;12975309;14702039;15904467;16344560;17058067;17110338;18834073;19176398;21450906;22027689;22505724;22914648;23708057;24114056 56667 C9IZG1;Q9H3R2 AB035807;ABBA01016431;AC026342;AF286113;AK000070;AMYH02007565;AY358831;CH471052;DA428072;KF573700;NM_033049 AAI72322;AAK56861;AAQ89190;BAA90925;BAB19651;EAW79404;NP_149038;Q9H3R2 Hs.5940 1784794;1784796;1797888;2148234 MUC13_1868;SHGC-155142;SHGC-155143;SHGC-77291 DRCC1;FLJ20063;MUC-13 OTTHUMP00000215538;down-regulated in colon cancer 1;mucin 13, epithelial transmembrane;mucin-13 APPROVED protein-coding ENSG00000173702 HGNC:7511 10101 612181 VALIDATED 1343554 MTUS1 microtubule associated tumor suppressor 1 This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008] 8 8 8 p22 16466963 16624476 - 17501303 17658729 - 17643794 17801220 - 708603;2317016;2317017;2317019;6480464;5133679;8554872 12692079;16270321;19794912;19956880;20889352 10574462;12477932;14702039;15123706;16344560;16650523;16887298;17068200;17301065;18519826;19344625;19545354;20379614;20687230;21988832;22153618;22678362;23396587;24299308;24816145 57509 H0YC63;Q9ULD2 AB033114;ABBA01021580;ABBA01021581;AC027117;AC124069;AF086371;AF121259;AF293357;AF394227;AK000172;AK024357;AK026661;AK093875;AK125188;AK289750;AK294860;AK304105;AK310871;AK314692;AL096842;AMYH02017537;AMYH02017538;AMYH02017539;AX210061;AX210064;AY363099;BC007328;BC017740;BC033842;BC098381;BC117564;BC136320;BC142971;BC171765;BX648879;CH471080;DA075758;DA113649;DA339588;DB221458;FJ458441;FJ472826;FJ472827;NG_023373;NM_001001924;NM_001001925;NM_001001931;NM_001166393;NM_020749;XM_005273577;XM_005273578;XM_005273579;XM_005273580;XM_005273581;XM_005273582;XM_005273583;XR_247126 AAG33674;AAH07328;AAH33842;AAI36321;AAI40068;AAI40069;AAI42972;AAL37035;AAQ24172;BAA86602;BAB14894;BAF82439;BAG37243;BAG54161;BAG57964;BAG65008;CAB50791;CAC60396;CAC60397;CAH56128;EAW63804;EAW63805;EAW63806;EAW63807;EAW63808;EAW63809;EAW63810;NP_001001924;NP_001001925;NP_001001931;NP_001159865;NP_065800;Q9ULD2;XP_005273634;XP_005273635;XP_005273636;XP_005273637;XP_005273638;XP_005273639;XP_005273640 Hs.7946 1667107;1759785;1767294;1774673;1794216;2131799;2139661;2173457;2179104;2180489;2187257 A008L44;D8S1412E;G17214;PMC310830P25;RH12837;SHGC-170025;SHGC-52401;SHGC-53007;SHGC-57581;STS-R55192;WI-14143 ATBP;ATIP;DKFZp586D1519;DKFZp686F20243;FLJ14295;ICIS;KIAA1288;MP44;MTSG1 AT2 receptor-binding protein;AT2 receptor-interacting protein;AT2R binding protein;OTTHUMP00000224769;OTTHUMP00000224771;OTTHUMP00000224772;OTTHUMP00000224773;angiotensin-II type 2 receptor-interacting protein;erythroid differentiation-related;microtubule-associated tumor suppressor 1;mitochondrial tumor suppressor gene 1;transcription factor MTSG1 APPROVED protein-coding ENSG00000129422 HGNC:29789 11376 609589 REVIEWED 1351658 MUC15 mucin 15, cell surface associated INVOLVED IN cellular protein metabolic process (inferred); O-glycan processing (inferred); post-translational protein modification (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); Golgi lumen (inferred); integral component of membrane (inferred); INTERACTS WITH arsenite(3-); benzo[a]pyrene; copper(2+) sulfate 11 11 11 p14.3 26725946 26739174 - 26580579 26593815 - 26559032 26572268 - 6480464;8554872 12047385;12477932;12975309;15489334;16344560;17207965;17720698;18834073;19520792;19553259;21615302;22657408;23933603;24710941;8889548 143662 Q8N387 ABBA01060981;AC036114;AJ417818;AJ507429;AK026790;AK128337;AMYH02024496;AMYH02024497;AY358668;BC020912;BC058007;BU676338;CH471064;DA842986;NM_001135091;NM_001135092;NM_145650;XM_005252800;XM_006718148 AAH20912;AAH58007;AAQ89031;ADQ32187;BAG54662;CAD10624;CAD45555;EAW68297;EAW68298;EAW68299;NP_001128563;NP_001128564;NP_663625;Q8N387;XP_005252857;XP_006718211 Hs.407152 1660766;1668872;1697210;1769744;1772162;1772958;2141072;2178114 A004R23;D11S4348;RH102097;RH16157;RH16467;RH35938;RH78143;SGC34286 MUC-15;PAS3;PASIII OTTHUMP00000231907;OTTHUMP00000231908;OTTHUMP00000231909;mucin-15 protein-coding ENSG00000169550 HGNC:14956 16349 608566 VALIDATED 1318126 MTTP microsomal triglyceride transfer protein MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008] 4 4 4 q24 97782659 97842577 + 100485240 100545154 + 99564083 99623997 + 1581043;1581044;1581045;1625482;1625483;1625489;1625485;1625486;1625487;1625492;1580863;1625490;6480464;8554872;8699517 10946006;11849654;12191589;14741197;15136504;15635487;16328015;16697730;17215532;17426313;8533758 10679949;11358959;11792722;11834530;12020640;12116231;12231571;12477932;12630961;12691171;12716735;12775233;12818411;1439810;14615589;14732481;15028851;15094225;15297289;15337761;15489334;15504742;15547294;15547295;15654125;15701598;15719047;15795421;15864113;15911777;15953542;16015282;16183064;16291571;16321277;16344560;16458034;16518588;16611701;16617174;16712791;16721486;17275380;17339647;17464986;17476189;17647275;17690102;17700364;17784784;17825806;17854051;17924655;18027103;18034366;18065580;18280132;18325332;18482281;18497882;18497885;18624350;18803359;18951054;18996102;19018985;19056372;19155782;19255880;19262398;19403348;19420105;19501864;19546343;19689828;19733470;19817962;19913121;20007910;20592474;20602615;20628086;20855565;21316344;21394827;21438662;21502686;21727734;22147193;22150066;22357705;22496539;23043934;23273182;23356586;23475612;23532846;23609384;23738963;23936387;24139731;24588800;7545943;7664034;7961826;8111381;8125298;8361539;8856971;8939939;9106493;9211060;9694898;9915855 4547 D6R915;D6RAB8;D6RBJ4;D6REL9;D6REP9;D6RHZ9;D6RJG5;E9PBP6;P55157 AA609331;ABBA01063674;AC083902;AI623321;AK225328;AK290793;AK302602;AMYH02009798;AMYH02009799;BC062696;BC125110;BC125111;BE047932;CB162574;CH471057;DB083001;DB458800;NG_011469;NM_000253;NM_001300785;X59657;X75500;X83013;X83030;X91148;XM_005263025 AAH62696;AAI25111;AAI25112;BAF83482;BAH13759;CAA42200;CAA53217;CAA58142;CAA62585;EAX06106;NP_000244;NP_001287714;P55157;XP_005263082 Hs.195799 1654157;1675261;1743977;1771678;1773683;2133379;2162024 D4S979;GDB:384603;SHGC-12008;SHGC-67619;SHGC-67823;STS-N41015;STS-X59657 ABL;MGC149819;MGC149820;MTP OTTHUMP00000161646;OTTHUMP00000220444;microsomal triglyceride transfer protein (large polypeptide, 88kDa);microsomal triglyceride transfer protein large subunit APPROVED protein-coding ENSG00000138823 HGNC:7467 01144 157147 REVIEWED 1347863 MUC12 mucin 12, cell surface associated INVOLVED IN cellular protein metabolic process (inferred); O-glycan processing (inferred); post-translational protein modification (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi lumen (inferred); INTERACTS WITH 17beta-estradiol; bucladesine; cadmium atom 7 7 7 q22 95609644 95669939 + 100612904 100662230 + 100969623 101018949 + 1580863;6480464;8554872 10463611;12477932;18834073;20162577;20936779 10071 H7BXN1;Q9UKN1 ABBA01011354;ABBA01011355;ABBA01165371;AC105446;AC254629;AF147790;AF147791;AK024856;AK025404;AK296627;AMYH02016395;AMYH02016396;BC127877;CH471197;NM_001164462 AAD55678;AAD55679;AAI27878;BAH12403;EAW50190;NP_001157934;Q9UKN1 Hs.489355 1764273;1779153;1788234;1788236;1789520;2147493;5123261;5126493 D7S3097;D7S3099;D7S3180;D7S797E;GDB:4585235;GDB:4585389;RH48096;SHGC-147897 MUC-11;MUC-12;MUC11 OTTHUMP00000211374;mucin 11;mucin 12;mucin-11;mucin-12 protein-coding ENSG00000205277 HGNC:7510 604609 PROVISIONAL 1312511 MUC17 mucin 17, cell surface associated Membrane mucins, such as MUC17, function in epithelial cells to provide cytoprotection, maintain luminal structure, provide signal transduction, and confer antiadhesive properties upon cancer cells that lose their apical/basal polarization.[supplied by OMIM, Apr 2004] 7 7 7 q22.1 95671073 95710172 + 100663364 100702140 + 101020083 101058859 + 6480464;7349362;7349360;8554872 22172882;23395625 11855812;12027806;12477932;12888891;16341674;16737958;17990980;18834073;20065027;20211273;20702471;20926598;21393431;22970168;22990020;23784542;9299468 140453 E7EPM4;Q685J3 ABBA01011353;ABBA01011354;AC105446;AF016692;AF016693;AF016694;AF430017;AJ606307;AJ606308;AK026404;AMYH02016396;AMYH02016397;AMYH02016398;BC126315;BM768498;BM773519;BM987743;NM_001040105 AAB71685;AAB71686;AAB71687;AAI26316;AAL89737;CAE54435;CAE54436;NP_001035194;Q685J3 Hs.271819 1789514;2217650 D7S3177;MUC17_3074 MUC-17;MUC-3;MUC3 OTTHUMP00000211331;membrane mucin MUC17;mucin 17;mucin-17;secreted mucin MUC17;small intestinal mucin MUC3;small intestinal mucin-3 APPROVED protein-coding ENSG00000169876 HGNC:16800 16335 608424 PROVISIONAL 1606083 MUC21 mucin 21, cell surface associated INVOLVED IN cellular protein metabolic process (inferred); negative regulation of cell-cell adhesion (inferred); negative regulation of cell-substrate adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH paracetamol 6 6 6 p21.32 32549597 32555047 + 30951485 30957675 + 30983708 30989898 + 6480464;8554872 12477932;12975309;14702039;16344560;17977904;19851445;20388707;21738480;21801394;21841780;23263863;23284291;23551011 394263 Q5SSG8 AB242595;ABBA01038067;AK056612;AK298642;AK301645;AK316363;AL663093;AL669830;AL773541;AMYH02013439;AY358415;BC105735;BC105736;BC105737;BC107478;CH471081;CR759747;CR759772;CR759964;CT009610;DA763771;HM596784;NM_001010909;XM_005275123;XM_005275124;XM_005275406;XM_005275407 AAI05736;AAI05737;AAI05738;AAI07479;AAQ88781;ADJ96647;BAF92842;BAG60817;BAG63124;BAH14734;EAX03353;NP_001010909;Q5SSG8;XP_005275180;XP_005275181;XP_005275463;XP_005275464 Hs.448277 1790851;2220222;7184124 D6S2697;D6S2945 C6orf205;KMQK697;MGC125609;MUC-21;bCX31G15.2 OTTHUMP00000063722;epiglycanin;mucin-21 protein-coding ENSG00000204544 HGNC:21661 16665 VALIDATED 1312550 MUC20 mucin 20, cell surface associated This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014] 3 3 3 q29 193751858 193757111 + 195416293 195467004 + 195720882 195733553 + 1580863;6480464;7364789;7364790 14565953;16508246 10718198;10737800;12477932;12975309;14702039;15314156;15342556;16029633;17058067;18834073;21988832;22663354;22929560;23262208;23625723;23787019;8889548 200958 C9JJE7;E9PH32;H7C102;Q8N307 AB037780;AB098731;AB098733;ABBA01018423;AC069513;AC233280;AC236675;AC237028;AC237041;AC237104;AC245434;AK027314;AK075138;AK298316;AK311504;AY358449;BC029267;BC044243;BF883124;BM697386;BM721408;BM986861;BP352469;BU685426;CH471052;DC348309;HG496572;HG496581;HG496582;HG496583;NG_033877;NM_001282506;NM_001291833;NM_020790;NM_152673 AAH29267;AAH44243;AAQ88814;ADZ15457;BAA92597;BAB55035;BAC11428;BAD06718;BAD06720;BAH12755;EAW78022;NP_001269435;NP_001278762;NP_065841;NP_689886;Q8N307 Hs.308992 1657283;1760559;2160979;5022200;5022578;5022588;5024413;5037552 D1S1423;D5S1597E;D8S2279;L17877;L18426;RH48099;RH48112;SHGC-143979 AC069513.3;FLJ14408;FLJ53153;KIAA1359;MUC-20 OTTHUMP00000208733;OTTHUMP00000208735;mucin-20;transmembrane mucin MUC20S 1643250 BW134_H APPROVED protein-coding ENSG00000176945 HGNC:23282 17615 610360 REVIEWED 1346263 MUC16 mucin 16, cell surface associated INVOLVED IN cellular protein metabolic process (inferred); O-glycan processing (inferred); post-translational protein modification (inferred); ASSOCIATED WITH Bile Duct Neoplasms; Cholangiocarcinoma; Dry Eye Syndromes; FOUND IN extracellular vesicular exosome; extrinsic component of membrane; vesicle; INTERACTS WITH 3,4-dichloroaniline; all-trans-retinoic acid; bisphenol A 19 19 19 p13.2 233 2126 - 8959516 9092018 - 8848840 8981342 - 1580863;2325132;2325134;2325203;2325129;2325142;6480464;7364735;7364774;7349375;7364772;8554872 1653472;1657243;17542293;18641636;18782111;19122828;19377061;20356397;22089171 10737800;11369781;11786729;11920644;12218296;12615972;12734200;12766047;12893366;14566828;14676194;14702039;14764598;15016783;15483748;15599662;15788735;16174214;16194893;16384952;16923563;16979301;17067392;17211626;17285443;17300679;17301071;17413979;17449138;17592322;17604678;17662495;17706208;17852076;17852813;17942799;18042071;18317225;18342144;18503158;18555226;18555706;18609108;18797897;18820245;18834073;18854288;19060592;19064572;19075018;19190083;19199708;19270645;19337252;19383238;19437230;19440066;19556244;19585675;19589273;19937162;20008896;20009886;20089172;20090516;20091044;20099501;20118015;20201996;20361286;20373053;20466443;20488159;20497550;20598042;20628030;20680316;20803207;20822954;20861755;21046495;21079983;21280316;21326240;21331365;21338226;21344262;21358606;21367474;21404303;21421261;21508102;21515085;21601106;21614912;21625941;21775916;21785467;21792548;21836488;21852110;21893498;22022186;22066010;22159147;22260844;22284961;22286058;22320398;22380506;22412224;22528792;22542127;22639051;22674301;22727919;22939629;22941175;22994745;23053434;23095772;23168398;23314748;23322523;23343214;23357461;23414674;23426716;23544943;23560726;23564055;23568007;23575338;23613350;23643288;23669443;23687433;23702013;23765208;23886210;23915849;23925696;24012857;24039759;24060730;24083699;24204560;24246580;24359057;24403483;24447304;24659664;24740561;24771264;24779300;24812549 94025 B3KY81;B5ME49;M0QZZ9;M0R2S7;M0R2Y5;Q8WXI7 ABBA01014650;ABBA01014651;ABBA01014652;ABBA01029993;ABBA01029994;ABBA01029995;ABBA01029996;ABBA01029997;ABBA01029998;ABBA01029999;AC008734;AC016584;AF361486;AF414442;AK024365;AK056791;AK128681;AK128856;AK128857;AM903345;AMYH02035453;AMYH02035454;AMYH02035455;BF359193;BI256451;KF456494;NM_024690;XM_006722941 AAK74120;AAL65133;BAB14899;BAC87568;BAG54742;BAG54743;CAP17281;NP_078966;Q8WXI7;XP_006723004 Hs.432676 1340688;1725077;1754129;1783780;2180596;2184206 D19S1117;D1S2831;RH118834;RH66740;SHGC-111231;SHGC-132163 CA-125;CA125;FLJ14303;MUC-16 CA125 ovarian cancer antigen;OTTHUMP00000240375;mucin 16;mucin-16;ovarian cancer-related tumor marker CA125;ovarian carcinoma antigen CA125 protein-coding ENSG00000181143 HGNC:15582 606154 VALIDATED 736898 MUC3A mucin 3A, cell surface associated The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] 7 7 7 q22 95277878 95298517 + 100547086 100611617 + 100949454 100967602 + 1580863;2324946;2324948;2303743;2303607;1625545;2325170;6480464 11576628;11680592;12657964;16689826;16964428;19032457 10405327;10512748;10973822;11289722;12853948;12958310;1362870;14550470;18163520;18790050;18834073;19365834;19365837;20510874;2393399;7778880;9334251;9847074 4584 Q02505;Q9H3Q6 AB038782;AB038784;ABBA01011356;ABBA01011357;AC105446;AC118759;AC254629;AF007194;AF007195;AF007196;AF007197;AF113616;AF143371;AF143372;AF143373;AMYH02016395;AY307930;BI005786;M55405;M55406;NM_005960;XM_006710192;XM_006716217;XM_006716218;XM_006726442 AAA63772;AAA63773;AAB84381;AAB84382;AAB84383;AAC02272;AAD45882;AAD45883;AAD45884;AAF13032;AAQ73824;BAB12116;BAB12118;NP_005951;Q02505;XP_006710255;XP_006716280;XP_006716281;XP_006726505 Hs.744422;Hs.744530 1788238;1789480;2136673 D7S3096;D7S3100;MUC3 MUC-3A;MUC3 OTTHUMP00000211364;intestinal mucin-3A;mucin;mucin 3;mucin 3, intestinal;mucin 3A, intestinal;mucin-3A APPROVED protein-coding HGNC:7513 158371 VALIDATED 1347141 MUC3B mucin 3B, cell surface associated INVOLVED IN cellular protein metabolic process (inferred); O-glycan processing (inferred); post-translational protein modification (inferred); FOUND IN Golgi lumen (inferred); integral component of membrane (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; valproic acid 7 q22 95598758 95608359 + 6480464 10405327;10512748;10973822;11289722;12853948;12958310;18163520;2393399;9334251 57876 Q7LDU4;Q9H195 AB038781;AB038783;AJ291390;AY307931;XM_005276299 AAQ73825;BAB12115;BAB12117;CAC19572;Q9H195;XP_005276356 Hs.744422 1788238;1788240;1789480;2136673 D7S3096;D7S3100;D7S3102;MUC3 MUC-3B;MUC3;MUC3A intestinal mucin MUC3B;intestinal mucin-3B;mucin 3b;mucin-3B protein-coding HGNC:13384 605633 1343631 MUC19 mucin 19, oligomeric This gene encodes a member of the gel-forming mucin protein family. Mucin family members are glycoproteins that have tandem repeats which are extensively O-glycosylated. The structural features of mucin proteins are responsible for the gel-like properties of mucus. The encoded protein may be involved in disruption of the ocular surface in Sjogren syndrome. [provided by RefSeq, Apr 2014] 12 12 12 q12 39730155 39736719 + 40791677 40964632 + 40393394 40570757 + 6480464;7364736;8554872 18184611 12882755;14702039;15340121;17667140;18426393;18587394;18834073;19068216;19533339;19714762;20379614;21072187;21072847;21075863;21102463;23128233;23619718 283463 C9JCE7;G3CIG0;H0YH61;H7BZA9;Q7Z5P9;V9GY53 ABBA01014815;ABBA01031370;ABBA01031371;ABBA01031372;ABBA01031373;AC024935;AC074030;AC107023;AK093065;AMYH02026338;AMYH02026339;AY236870;BG718209;CR749517;DV080669;DV080670;HM801842;HM801843;HM801844;HM801845;HM801846;HM801847;HM801848;HM801849;HM801850;HM801851;HM801852;HM801853;HM801855;HM801856;HM801857;HM801858;HM801859;HM801860;HM801861;HM801862;NM_173600 AAP41817;AEM63682;AEM63683;AEM63684;AEM63685;AEM63686;AEM63687;AEM63688;AEM63689;AEM63690;AEM63691;AEM63692;AEM63693;AEM63694;AEM63695;AEM63696;AEM63697;AEM63698;AEM63699;BAC04041;NP_775871;Q7Z5P9 Hs.632712 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FLJ35746;MUC-19 OTTHUMP00000066281;OTTHUMP00000067238;mucin 19;mucin-19 APPROVED protein-coding HGNC:14362 612170 PROVISIONAL 737252 MUC1 mucin 1, cell surface associated This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011] 1 1 1 q21 128229565 128235983 - 155158300 155162768 - 155185824 155192915 - 2324667;2303743;2324855;2317987;2324633;2317986;2324649;2324856;2324857;2317980;2317983;2317981;2324651;2324637;2324638;2324639;2324650;2324616;2324664;2324652;2324622;2324648;2324635;5131164;5131176;2317984;2324860;5131260;5131166;5131171;5131272;5131281;5131424;5131160;4143496;5131273;5131175;5131173;5131182;5131170;5131177;5131276;6480464;7245968;7349375;7349380;7246892;7349369;7244289;7244290;7349383;7349378;7364757;7349351;7245959;7349340;7349376;7240710;7349379;7349374;7245967;8699517;8662965;8554872 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AA425062;ABBA01016713;AC234582;AF125525;AF348143;AK301575;AL713999;AMYH02001941;AY327582;AY327583;AY327584;AY327585;AY327586;AY327587;AY327588;AY327589;AY327590;AY327591;AY327592;AY327595;AY327596;AY327597;AY327598;AY327599;AY327600;AY463543;AY466157;BC120974;BC120975;BM969296;BM971650;CH471121;EF583642;EF583643;EF583644;EF583645;EF583646;EF583647;EF583648;EF583649;EF583650;EF583651;EF583652;EF583653;EF583654;EF583655;EF583656;EF670706;EF670707;EF670708;EF670709;EF670710;EF670711;EF670712;EF670713;EF670714;EF670715;EF670716;EF670717;EF670718;EF670719;EF670720;EF670721;EF670722;EF670723;FJ226028;FJ226029;FJ226030;FJ226031;FJ226032;FJ226033;FJ226034;FJ226035;FJ226036;FJ226037;FJ226038;FJ226039;FJ226040;FJ226041;FJ226042;FJ226043;FJ226044;FJ226045;FJ226046;FJ226047;FJ226049;FJ226050;FJ226051;FJ226052;FJ226053;FJ226054;FJ226055;J05581;J05582;JA362576;L38597;M26316;M31823;M32738;M32739;M34088;M34089;M35093;M61170;NG_029383;NM_001018016;NM_001018017;NM_001044390;NM_001044391;NM_001044392;NM_001044393;NM_001204285;NM_001204286;NM_001204287;NM_001204288;NM_001204289;NM_001204290;NM_001204291;NM_001204292;NM_001204293;NM_001204294;NM_001204295;NM_001204296;NM_001204297;NM_002456;S81736;S81781;U60259;U60260;U60261;X52228;X52229;X80761;Z17324;Z17325 AAA35757;AAA35804;AAA35805;AAA35806;AAA35807;AAA36336;AAA57348;AAA59876;AAA60019;AAB53150;AAB59612;AAD10856;AAD10857;AAD10858;AAD14369;AAD14376;AAD27842;AAI20975;AAI20976;AAK30142;AAP97013;AAP97014;AAP97015;AAP97016;AAP97017;AAP97018;AAP97019;AAP97020;AAP97021;AAP97022;AAP97023;AAP97024;AAP97025;AAP97026;AAP97027;AAP97028;AAP97029;AAR18816;AAR28764;ABQ59617;ABQ59618;ABQ59619;ABQ59620;ABQ59621;ABQ59622;ABQ59623;ABQ59624;ABQ59625;ABQ59626;ABQ59627;ABQ59628;ABQ59629;ABQ59630;ABQ59631;ABS01293;ABS01294;ABS01295;ABS01296;ABS01297;ABS01298;ABS01299;ABS01300;ABS01301;ABS01302;ABS01303;ABS01304;ABS01305;ABS01306;ABS01307;ABS01308;ABS01309;ABS01310;ACI25160;ACI25161;ACI25162;ACI25163;ACI25164;ACI25165;ACI25166;ACI25167;ACI25168;ACI25169;ACI25170;ACI25171;ACI25172;ACI25173;ACI25174;ACI25175;ACI25176;ACI25177;ACI25178;ACI25179;ACI25180;ACI25181;ACI25182;ACI25183;ACI25184;ACI25185;ACI25186;BAG63068;CAA36477;CAA36478;CAA56734;CAA78972;CAA78973;CCA94570;EAW53112;EAW53113;EAW53116;EAW53117;EAW53118;EAW53119;NP_001018016;NP_001018017;NP_001037855;NP_001037856;NP_001037857;NP_001037858;NP_001191214;NP_001191215;NP_001191216;NP_001191217;NP_001191218;NP_001191219;NP_001191220;NP_001191221;NP_001191222;NP_001191223;NP_001191224;NP_001191225;NP_001191226;NP_002447;P15941 Hs.89603 1680166;5021389 D1S3411;SHGC-12710 ADMCKD;ADMCKD1;CA 15-3;CD227;EMA;H23AG;KL-6;MAM6;MCD;MCKD;MCKD1;MUC-1;MUC-1/SEC;MUC-1/X;MUC1/ZD;PEM;PEMT;PUM DF3 antigen;H23 antigen;Medullary cystic kidney disease, autosomal dominant;OTTHUMP00000033786;OTTHUMP00000033787;OTTHUMP00000033788;OTTHUMP00000033789;OTTHUMP00000033790;OTTHUMP00000033791;OTTHUMP00000033792;OTTHUMP00000033793;OTTHUMP00000033794;OTTHUMP00000033795;breast carcinoma-associated antigen DF3;cancer antigen 15-3;carcinoma-associated mucin;episialin;krebs von den Lungen-6;medullary cystic kidney disease 1 (autosomal dominant);mucin 1;mucin 1, transmembrane;mucin-1;peanut-reactive urinary mucin;polymorphic epithelial mucin;tumor associated epithelial mucin;tumor-associated epithelial membrane antigen;tumor-associated mucin APPROVED protein-coding ENSG00000185499 HGNC:7508 01152 158340;174000 REVIEWED 1347084 MUC5B mucin 5B, oligomeric mucus/gel-forming This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010] 11 11 11 p15.5 1282436 1319815 + 1244295 1283406 + 1223065 1262176 + 1580863;2324948;2324986;2325214;5131169;5131193;5131194;5131252;5131192;5131191;6480464;7240710;7364744;7349405;7349395;7349339;7364764;7364763;7349353;7364762;8554872 11587997;11680592;11802783;11845304;14690056;15709052;16540890;17063754;17255563;18776153;19068094;19191526;22336013;22539951;23272068;7657125 10217161;11062147;11713095;11825880;11853536;11996097;12459324;12756239;12768436;14758553;14988081;15563276;16188033;16341674;16502470;16740002;17125499;1718282;17471237;17473699;17606809;17621824;17671696;17703412;17850213;17998215;18272164;18282555;18339669;18688042;18757307;18817906;18834073;18976975;19077699;19118346;19258923;19452580;19556293;19556605;19596978;19718741;19783639;20066894;20081098;20156260;20197185;20301408;20422702;20497020;20503287;20531251;20572857;20873538;20946627;21097527;21194732;21455588;21506741;21506748;21596555;21618303;21619869;21832046;21981454;22269464;22391959;22576636;22591690;22802285;23207284;23249391;23314748;23321605;23406586;23527003;23692170;23695349;23783374;23807779;23929584;23940607;24429156;24434656;24547893;24792379;24885580;7513696;7916618;8554565;8889548;9013550;9109822;9147051;9164870;9201995;9790959;9804771;9815215 727897 H0YDX8;Q9HC84 AA577624;ABBA01012134;ABBA01012135;ABBA01012136;AC061979;AF086604;AF107890;AF253321;AJ004862;AK303892;AK310939;AMYH02024162;AMYH02024163;AMYH02024164;BM740816;BM796192;BM817984;CA450235;DC418119;NG_031880;NM_002458;S80993;U63836;U78550;U78551;U95031;X74370;X74954;X74955;X74956;Y09788;Z72496 AAB35930;AAB61398;AAB65151;AAC51342;AAC51343;AAC67545;AAF64523;AAG33673;BAG64826;CAA06167;CAA52408;CAA52909;CAA52910;CAA52911;CAA70926;CAA96577;NP_002449;Q9HC84 Hs.523395 1682255 RH93723 MG1;MUC-5B;MUC5;MUC9 OTTHUMP00000233052;cervical mucin MUC5B;high molecular weight mucin;high molecular weight salivary mucin MG1;mucin 5, subtype B, tracheobronchial;mucin, salivary (high molecular weight);mucin-5 subtype B, tracheobronchial;mucin-5B;sublingual gland mucin APPROVED protein-coding ENSG00000117983 HGNC:7516 178500;600770 REVIEWED 735893 MUC4 mucin 4, cell surface associated The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] 3 3 3 q29 194080875 194081499 - 195473636 195539148 - 195746765 195811973 - 1580863;2303602;2303743;2303607;2303746;2324946;2324921;2324944;2324927;2324929;2324916;2324931;2324942;2324922;2324890;2324914;2324891;2324923;5131208;5131258;6480464;2303603;7349377;7349395;7364757;7349351;7364766;7349369;7349391;7349400;7349372;7349375;8554872 10918186;11576628;11581187;11596032;11751498;12657964;12717211;14507865;14690056;14752841;16049287;16274046;16689826;16857800;17079945;17126950;17169838;17177679;17406026;17595659;18397823;18475301;18998135;19082442;19287349;20303649;21155842;21775928;22089171;8143972 10024507;10880978;10920259;11062147;11598901;11687512;11727258;11925450;12084055;12102554;12153560;12386815;12434309;12477932;12495942;12732353;12748185;1351710;14744777;15184872;15461591;15672420;15897748;16007204;16266293;16302265;16329125;16344560;16475027;16502470;16624867;16690615;1673336;16779668;16799633;16807280;16814944;16880776;16891313;16914178;17037983;17058067;17292332;17553805;17592322;17621592;17703412;17891050;18008338;18029348;18381409;18492726;18573283;18665193;18781152;18834073;19010895;19127263;19188823;19190083;19199708;19236510;19258923;19288496;19738614;19757157;20065027;20423995;20432461;20503287;20591909;20697346;20922503;21072847;21349170;21415703;21615302;21618516;21647207;21728842;21889495;21983127;22105367;22393391;22580602;22614008;22644656;22757586;22791819;22982887;23053434;23152882;23305535;23307400;23370366;23408941;23446997;23464473;23544943;23668430;23685711;23860190;23921963;24037917;24047396;24204560;24204934;24240113;24290871;24374017;7745080;8245407;9620877;9858486 4585 A0T3F4;E7ENC5;E7EQG8;E7EQT2;E7ERK0;E7ETT5;E7EUL9;E7EW47;E7EWN1;E9PDY6;H0Y2Y1;H7BXN7;H7BZI3;Q99102 ABBA01018423;ABBA01018424;ABBA01018425;ABBA01018426;AC069513;AC233280;AC236675;AC237039;AC237041;AC237047;AC237104;AC239646;AC245434;AF058803;AF058804;AF177925;AF522055;AJ000281;AJ000282;AJ010901;AJ242541;AJ242542;AJ242543;AJ242544;AJ242545;AJ242546;AJ242547;AJ242548;AJ242549;AJ242550;AJ276359;AJ277412;AJ277505;AJ400633;AJ400849;AJ400850;AJ400851;AJ400852;AJ400853;AJ400854;AJ400855;AJ400856;AJ400857;AJ400858;AJ430032;AK307054;AW190850;BC131770;BX957139;DB227644;EF091824;M64594;NM_004532;NM_018406;NM_138297 AAA63230;AAC34750;AAC34751;AAD53171;AAM66747;ABK78776;CAA03985;CAB38059;CAB81773;CAB85597;CAB85598;CAB85599;CAB85600;CAB85601;CAB85602;CAB85603;CAB85604;CAB85605;CAB85606;CAC10061;CAC10062;CAC14134;CAC14135;CAC14136;CAC14137;CAC14138;CAC14139;CAC14140;CAC14141;CAC14142;CAC14143;CAC14585;CAD22550;NP_004523;NP_060876;NP_612154;Q99102 Hs.369646 1336654;1763093;2217652;7186890 D3S1265;MUC4_1560;SHGC-146829 ASGP;HSA276359;MUC-4 OTTHUMP00000208747;OTTHUMP00000208748;OTTHUMP00000216675;OTTHUMP00000216676;OTTHUMP00000216679;ascites sialoglycoprotein;mucin 4;mucin 4, tracheobronchial;mucin-4;pancreatic adenocarcinoma mucin;testis mucin;tracheobronchial mucin 1643250 BW134_H APPROVED protein-coding ENSG00000145113 HGNC:7514 11829 158372 REVIEWED 735987 MUC2 mucin 2, oligomeric mucus/gel-forming This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 313 1639 - 1074875 1104417 + 1074875 1110508 + 1580863;2324651;2324948;2317985;2324868;2324889;2324675;2324887;2324683;2303607;2324672;2324685;5131178;5131426;6480464;6907045;7349352;2324885;7349368;2303603;7349369;7349372;7349350;7349358;7349363;7349385;7349345;7349349;7349351;7349362;7349354;7349360;7349361;7349356;7349348;7349359;7349370;7349371;7349376;8693640;8554872 11062147;11680592;12395902;12717211;12717243;12870797;14594655;15048136;15260848;15882887;15980276;16689826;17177679;17187651;17659847;17708554;17847023;18507686;18619437;18998135;19099858;19220658;19287349;19713473;19954814;20138044;20459814;21949848;22172882;22293291;22768227;23011828;23395625;23590300;23798529;9155717 10336486;10737800;11445551;11813869;11893907;12077118;12135769;12218214;12237307;12374798;12391274;12417297;12482999;12490305;12507512;12527922;12559945;12582180;12820724;12820725;12848848;1400449;14525978;14550542;14616551;14678781;15000151;15081123;15240568;15345696;1550588;15665513;15733066;16142311;16188033;16227528;16285957;16447040;16475027;16552339;16721789;16733847;16754877;17058067;17203232;17321686;17333267;17401217;17471237;17509526;17674761;17703412;17982272;17991319;18000536;18004654;18038313;18059019;18299935;18300795;18301248;18487999;18566135;18825309;18834073;1885763;19119477;19201396;19246635;19258923;19321523;19359471;19432394;19718741;1980995;19815850;1985113;20065027;20198318;20198339;20379614;20485009;20503287;20706999;20718712;20731025;20865330;20873538;20878553;20929551;21125297;21290483;21318237;21441843;21596555;21602660;21605079;21618511;21647207;21700631;21831773;22073249;22116730;22118674;22261707;22269464;22402132;22417007;22451922;2254452;22582780;2265829;22752373;23179399;23305535;23347460;23464457;23464473;23546879;23583980;23619266;23807779;24280573;24290360;24324582;24478066;24478067;24566630;24816392;2703501;7864825;7926500;8300571;8975711;9065467;9224654;9407109;9668061;9722984;9865718 4583 Q02817 AA527400;ABBA01015222;ABBA01015223;ABBA01015224;ABBA01015225;ABBA01015226;ABBA01015227;AC139749;AC239832;AF257165;AF257166;AF257167;AJ007575;AMYH02024158;AMYH02024159;AMYH02024160;AW054915;BG982960;BQ340542;CH471158;CV354692;DV080627;L21998;M22404;M22405;M57417;M74027;M86523;M94131;M94132;NM_002457;U67167;U68061 AAA36333;AAA36334;AAA59163;AAA59164;AAA59861;AAA59875;AAA63229;AAB95295;AAC51519;AAG18515;AAG18516;AAG18517;EAX02421;EAX02422;NP_002448;Q02817 Hs.315 1742527;1769176;2122535 D11S4619;GDB:197852;MUC2B MLP;MUC-2;SMUC OTTHUMP00000210640;intestinal mucin-2;mucin 2, intestinal/tracheal;mucin-2;mucin-like protein APPROVED protein-coding HGNC:7512 11828 158370 VALIDATED 737024 MUC5AC mucin 5AC, oligomeric mucus/gel-forming ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); INVOLVED IN extracellular fibril organization; ASSOCIATED WITH Adenocarcinoma, Mucinous; Asthma; Biliary Tract Neoplasms; FOUND IN extracellular vesicular exosome; fibril; INTERACTS WITH (R)-mevalonic acid; 2,3,7,8-tetrachlorodibenzodioxine; 8'-apo-beta,psi-caroten-8'-al 11 11 11 p15.5 1216270 1325135 + 1142474 1162465 + 1157974 1201138 + 2324990;4145454;2324986;2324954;2324890;2324651;2324948;2324973;2324968;2324907;2325129;2317984;2324889;2324987;2324887;2325168;2324916;5131431;5131205;2314537;2324962;5131204;4145655;5131207;5131190;5131191;6480464;7364730;7349403;7349406;7364761;7364759;7364747;7364735;7364739;7364740;7364743;7349345;7349354;7349402;7364729;7349349;7364762;7364764;7364734;7364736;7349405;7349407;7364737;7364741;7364731;7364742;7349377;4145626;7364745;7364746 10227724;11425202;11680592;11956390;12612884;14507865;14508831;14594655;14654947;14680076;15130904;15260848;15364771;15715404;16124042;16240224;16251127;16809382;16842244;17255563;17590487;17637221;17659847;17698377;17708554;17982500;18184611;18475301;18782111;19154443;19377061;19389874;19415319;19723147;19748999;19954814;20138044;20525715;20696593;20713760;21139981;21283525;21549818;21780541;22269441;22282955;22336013;22539951;22972875;23131200;23200466;23272068;23538614;7657125;8143972 10611155;11062147;11181995;11445551;11535137;11919081;11988092;11992401;12042033;12135769;12360467;12391274;12417511;12477932;12507512;12527922;12652076;12690113;12820724;12972643;14527933;14535999;14749330;14988081;15235131;15531749;15563276;15640347;16142311;16142316;16148149;16188033;16409634;16465045;16475027;16500622;16540890;16552336;16596179;16722930;16787389;17148666;17203232;17227128;17237423;17321686;17330845;17333267;17356062;17395013;17401217;17471237;17543073;17555715;17565737;17621824;17646388;17703412;17891046;17982272;17991319;18006877;18027866;18073139;18163520;18166592;18167142;18201532;18254322;18283638;18285671;18300795;18424749;18539955;18676374;18782768;18825309;18834073;18848467;18978302;19059885;19141355;19168703;19199708;19201815;19201889;19258923;19266212;19394453;19501047;19556605;19558858;19596978;19671252;19718656;19718741;19789190;19841186;19841867;19856421;19924550;20117097;20216230;20338103;20362698;20368025;20422702;20464982;20485009;20503287;20639461;20709182;20731025;20734208;20929551;20953890;20972463;21092491;21097527;21131736;21146919;21197415;21211365;21249315;21275604;21287531;21300824;21348892;21362305;21418859;21418911;21455588;21502330;21512244;21544845;21556755;21622856;21685325;21697763;21773870;21815153;21857919;21998660;22078291;22213337;22239058;22261707;22269464;22275269;22297031;22303480;22348416;22388989;22389405;22391959;22441738;22500101;22610099;22676183;22700966;22748473;22798432;23084780;23112547;23113953;23249391;23252568;23292004;23392388;23392769;23464473;23527003;23549814;23551418;23582017;23602830;23619266;23671562;23768102;23801416;23807779;23828387;23836919;23860410;23953484;24010879;24027752;24065389;24102466;24120646;24429156;24468034;24487386;7513696;7775418;7826332;8948439;9506983;9588204;9620876 4586 E9PJ98;P98088 AADC01095577;AADD01112371;ABBA01012133;ABBA01012134;ABBA01015228;ABBA01015229;ABBA01015230;AC139749;AF015521;AF016834;AF043909;AJ001402;AJ001403;AJ298317;AJ298318;AJ298319;AL833060;AMYH02024161;AMYH02024162;AP006588;BC033831;CH471158;FO680660;FP326773;KC800812;U06711;X81649;XM_006709945;XM_006709947;XM_006718399;XM_006726526;XM_006726528;Z34276;Z34277;Z34278;Z34279;Z34280;Z34281;Z34282;Z48314 AAA18431;AAC15950;AAC15951;AAC19168;AAH33831;AGR44427;CAA04737;CAA04738;CAA57309;CAA84030;CAA84031;CAA84032;CAA84033;CAA84034;CAA84035;CAA84036;CAA88307;CAC83674;CAC83675;CAC83676;CAH56330;EAX02424;EAX02425;P98088;XP_006710008;XP_006710010;XP_006718462;XP_006726589;XP_006726591 Hs.534332;Hs.558950;Hs.721515 1685015;2136603 MUC5AC;RH11428 MUC-5AC;MUC5;TBM;leB gastric mucin;lewis B blood group antigen;major airway glycoprotein;mucin 5, subtypes A and C, tracheobronchial/gastric;mucin 5, subtypes a and c;mucin 5AC, oligomeric mucus/gel-forming pseudogene;mucin-5 subtype AC, tracheobronchial;mucin-5AC;tracheobronchial mucin protein-coding ENSG00000215182 HGNC:7515 158373 MODEL 1606746 MUCL1 mucin-like 1 INVOLVED IN cellular protein metabolic process (inferred); O-glycan processing (inferred); post-translational protein modification (inferred); FOUND IN extracellular region (inferred); Golgi lumen (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; cyclosporin A 12 12 12 q 54900174 54904052 + 55248299 55252177 + 54854515 54858393 + 6480464 10737800;12019145;12477932;12975309;15096563;15340161;15489334;15684711;15880534;16720387;18269587;18497056;19221791;20364301;24657165 118430 F8VV13;Q96DR8 ABBA01008377;AC117496;AF414087;AI905624;AMYH02026539;AY359062;AY651259;BC111421;CH471054;CS488886;NM_058173 AAI11422;AAL02119;AAQ89421;AAT72303;CAM55960;EAW96795;NP_477521;Q96DR8 Hs.348419 SBEM OTTHUMP00000242195;OTTHUMP00000242199;mucin-like protein 1;small breast epithelial mucin protein-coding ENSG00000172551 HGNC:30588 17290 610857 VALIDATED 1606503 MUL1 mitochondrial E3 ubiquitin protein ligase 1 ENCODES a protein that exhibits identical protein binding; signal transducer activity; SUMO ligase activity; INVOLVED IN activation of cysteine-type endopeptidase activity involved in apoptotic process; activation of JUN kinase activity; cellular response to exogenous dsRNA; FOUND IN cytoplasm; integral component of mitochondrial outer membrane; membrane; INTERACTS WITH (+)-catechin; paracetamol; aflatoxin B1 (ortholog) 1 1 1 p36.12 19150266 19158998 - 20825941 20834674 - 20499448 20508181 - 6480464 11076863;11230166;11256614;12477932;12761501;14702039;15489334;15489336;16189514;16381901;16710414;18029348;18082624;18207745;18213395;18591963;19060904;19407830;19690564;19946888;20619655;20860623;20877624;21139048;21597459;21890473;21906983;21987572;21988832;22410793;23399697;24841215 79594 B7Z8S4;Q969V5 AB097015;ABBA01059781;AK022937;AK293430;AK303820;AL391357;AL833889;AMYH02000430;BC010101;BC014010;CH471134;CQ871304;EU935008;NM_024544 AAH10101;AAH14010;ACH72645;BAB14317;BAC77368;BAG56935;BAH14060;CAD38745;CAH56833;CAL38209;CAL38566;EAW94926;EAW94927;EAW94928;EAW94929;NP_078820;Q969V5 Hs.10101 1664230;2116847;2167506;2171976 D1S1766E;D1S2547;SHGC-31990;SHGC-74330 C1orf166;FLJ12875;GIDE;MAPL;RNF218;RP11-401M16.2 E3 SUMO-protein ligase MUL1;E3 ubiquitin ligase;E3 ubiquitin-protein ligase MUL1;MULAN;OTTHUMP00000002880;growth inhibition and death E3 ligase;mitochondria-anchored protein ligase;mitochondrial E3 ubiquitin ligase 1;mitochondrial ubiquitin ligase activator of NF-kB;mitochondrial ubiquitin ligase activator of NFKB 1;mitochondrial-anchored protein ligase;putative NF-kappa-B-activating protein 266;ring finger protein 218 APPROVED protein-coding ENSG00000090432 HGNC:25762 07799 612037 VALIDATED 7375937 MUPP major urinary protein, pseudogene 9 9 9 q32 86242750 86245871 + 115721414 115724541 - 112959134 112962261 - 18815613;20210993 100129193 ABBA01042692;AL139041;AMYH02021495;CH878453;NG_016729 EAW50553 MUP pseudo HGNC:49202 INFERRED 1353445 MUC6 mucin 6, oligomeric mucus/gel-forming The MUC6 gene encodes gastric mucin, a secreted glycoprotein that plays an essential role in epithelial cytoprotection from acid, proteases, pathogenic microorganisms, and mechanical trauma in the gastrointestinal tract (summary by Toribara et al., 1993 [PubMed 7680650]).[supplied by OMIM, Dec 2010] 11 11 11 p15.5 1081219 1087624 - 1012824 1036706 - 1012824 1036706 - 2325159;2325166;2325167;2324651;6480464;7364748;7364760;7364759;8554872 10209489;15260848;15280409;15998373;16240224;18410610;20309575 10330458;10673290;11988092;12360467;14702039;15081123;15716126;15979574;16447040;16475027;16554811;16807756;17009402;17227128;17401217;17471237;17982272;18300795;18360351;18825309;18834073;19423540;19682628;19855374;19924550;20139757;20406964;20438785;20506113;20602200;20878553;20929551;21193402;21490447;21596555;21851820;22261707;22402132;23054008;23163606;23305535;23446997;23807779;7680650;9195947;9422745 4588 E9PJC5;H0YDA7;H0YEZ6;Q6W4X9 ABBA01015219;ABBA01015220;ABBA01015221;AC139749;AC208587;AC239872;AK092533;AK096772;AK098503;AMYH02024157;AY312160;AY314024;AY370683;AY458429;AY500284;KC877387;KC877389;NM_005961;U97698;XM_006725532;XM_006725760 AAC51370;AAQ82434;AAQ86940;AAR14188;AAS13634;AAS76674;BAC04860;NP_005952;Q6W4X9;XP_006725595;XP_006725823 Hs.528432 MUC-6 OTTHUMP00000228589;gastric mucin-6;mucin 6, gastric;mucin-6 APPROVED protein-coding ENSG00000184956 HGNC:7517 158374 VALIDATED 1349980 MUM1L1 melanoma associated antigen (mutated) 1-like 1 This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] X X X q22.3 105886895 105927546 + 105412298 105452949 + 106168305 106208956 + 6480464;8554872 12477932;14702039;15146197;15489334;15772651;16344560;18029348;19056867;21139048;21906983 139221 Q5H9M0 AA412505;ABBA01018854;ABBA01018855;ABBA01018856;ABBA01018857;AK056478;AK090835;AL135922;AMYH02040196;AMYH02040197;BC031229;BC109292;BC109293;CH471120;CN369699;DA720504;DB445635;KF459295;NG_016639;NM_001171020;NM_152423;XM_005262077;XM_005262078;Z68289 AAH31229;BAB71194;BAC03529;EAX02743;EAX02744;NP_001164491;NP_689636;Q5H9M0;XP_005262134;XP_005262135 Hs.592221 1855557;1856799 AL008891;STS-AA034405 FLJ33516;MGC129994;MGC129995 MUM1-like protein 1;OTTHUMP00000023780;OTTHUMP00000023781;PWWP domain-containing protein MUM1L1;mutated melanoma-associated antigen 1-like protein 1 APPROVED protein-coding ENSG00000157502 HGNC:26583 06555 REVIEWED 1606650 MURC muscle-related coiled-coil protein This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013] 9 9 9 q31.1 73853560 73863400 + 103340361 103350671 + 100578079 100588389 + 6480464 12477932;18332105;18508909;19546242;21642240;21832049;22505724;23272181;8889549 347273 Q5BKX8 AA192639;AA446953;ABBA01042885;AK128238;AK300099;AL354917;AMYH02021341;BC090888;EU487253;NG_033273;NM_001018116 AAH90888;ACA62935;BAG61900;NP_001018126;Q5BKX8 Hs.733374;Hs.99004 2108577;2155791;2170843;2170845;2181992;5022322;5024761 A007J17;D11S2560;RH36905;RH47334;RH47356;SHGC-57355;TMEFF1_8835 CAVIN4;cavin-4 OTTHUMP00000215932;muscle-restricted coiled-coil protein protein-coding ENSG00000170681 HGNC:33742 18599 REVIEWED 1347821 MUC8 mucin 8 12 12 12 q24.33 86 1592 - 133049334 133050840 - 132472748 132474254 - 1580863 12842905;15330148;15615708;15966694;16188033;18834073;18952062;20564234;22521432;24885580;8002930;9070607 100129528 Q12964 ABBA01012389;AC079031;AMYH02027586;U14383;XM_005266194;XM_005275730;XM_005276431 AAA58346;XP_005266251;XP_005275787;XP_005276488 Hs.592357 2142504 G26698 mucin 8, tracheobronchial protein-coding HGNC:7519 601932 MODEL 1344843 MUC7 mucin 7, secreted This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014] 4 4 4 q13.3 68654415 68706918 + 71296209 71348714 + 70430492 70482997 + 1580863;6480464;7240710;8554872 11378823;11996097;12135769;12417297;12459324;12477932;12507512;12543672;12766201;14702039;15489334;15501816;15731026;16203048;16344560;16514118;16759176;16778149;17703412;18029348;18834073;19199708;19247692;19258923;19423540;19820409;20406964;20438785;20503287;20946627;21529783;21647207;22167029;22706105;23002673;23457413;7690757;8838308;9363439;9538010 4589 D6RHX1;Q8TAX7 ABBA01022928;AC106884;AC108518;AK093828;AK312855;AMYH02009421;BC025688;BX537739;BX647190;BX648903;CH471057;DB194707;DB199851;DB206328;DQ157434;L13283;NG_012348;NM_001145006;NM_001145007;NM_152291 AAH25688;ABM85003;EAX05621;NP_001138478;NP_001138479;NP_689504;Q8TAX7 Hs.631946 1720769;2122750 G59358;SHGC-14753 DKFZp686J03256;FLJ27047;MG2;MGC34772;MUC-7;apo-MG2 OTTHUMP00000160365;OTTHUMP00000219138;mucin 7, salivary;mucin-7;salivary mucin-7 APPROVED protein-coding ENSG00000171195 HGNC:7518 11759 158375;600807 REVIEWED 5453552 MUC22 mucin 22 FOUND IN integral component of membrane (inferred) 6 6 p21.33 30973729 31003179 + 31005952 31035402 + 19851445;20981447;21900946;23551011 100507679 E2RYF6 AB560770;AB600271;AB600272;ABBA01038067;AL663093;AL669830;AL805909;AMYH02013441;BX248321;BX927139;BX936457;BX942838;CR753812;CR759772;CR759964;CR762495;CT009610;CV572205;NM_001198815;XM_005248779;XM_005272758;XM_005274828;XM_005274908;XM_005275202;XM_005275334;XM_005275501 BAJ24154;BAJ33462;BAJ33463;E2RYF6;NP_001185744;XP_005248836;XP_005272815;XP_005274885;XP_005274965;XP_005275259;XP_005275391;XP_005275558 Hs.582967 1790849;5018894;7184123 C4_4_3;D6S2696 PBMUCL1 mucin-22;panbronchiolitis related mucin-like 1;panbronchiolitis-related mucin-like protein 1 protein-coding ENSG00000261272 HGNC:39755 613917 VALIDATED 1352078 MUSTN1 musculoskeletal, embryonic nuclear protein 1 FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene 3 3 3 p21.1 52845956 52848039 - 52867131 52869235 - 52833115 52835219 - 6480464 12477932;14718386;17519359;21926972;22087225;23263486;23974872 389125 C9JYJ2;D6R8Y8;Q8IVN3 ABBA01024498;AC099667;AJ276556;AMYH02006815;BC130550;BC130552;BX089772;CB043913;CR990075;NG_016006;NM_205853 AAI30551;AAI30553;ADR83456;CAC81756;NP_995325;Q8IVN3 Hs.556077 1784854;2148851;2158820 D3S3371;SHGC-156028;WI-12546 DKFZp686G21125 Mustang;OTTHUMP00000213872;OTTHUMP00000218921;musculoskeletal embryonic nuclear protein 1;musculoskeletal temporally activated novel protein-coding ENSG00000272573 HGNC:22144 14790 VALIDATED 731781 MUSK muscle, skeletal, receptor tyrosine kinase This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009] 9 9 9 q31.3-q32 83932761 84062557 + 113430935 113566386 + 110668655 110804106 + 633425;1580863;2317084;6480464;7240710;8549508;8554872;8699517 17081697;23032192;7546737 10477765;10878022;11754179;12477932;12885777;15159418;15496425;15691710;16487930;16794080;16857268;16917026;17012237;17192614;17576800;17661994;18165682;18378885;18384168;18567855;18567856;19327804;19745065;19949040;20301347;20371544;20596523;20974278;21386774;21969364;21993075;22210232;22424883;22939624;23326516;23352351;23386860;23467009;23553736;23720161;23993985;24183479;24297891;24416182;24447338;24530233;8274451;8653786;9136771 4593 O15146;Q5T0B5;Q5VZW9 AA448972;ABBA01042744;ABBA01042745;ABBA01042746;ABBA01042747;AF006464;AL157881;AL513328;AMYH02021460;AMYH02021461;AMYH02021462;AMYH02021463;AMYH02021464;AMYH02021465;AMYH02021466;AMYH02021467;BC109098;BC109099;BG825304;CH471105;NG_016016;NM_001166280;NM_001166281;NM_005592;XM_005251994;XM_005251995;XM_005251996;Z25436 AAB63044;AAI09099;AAI09100;ACE87789;ACE87790;ACT64447;CAA80923;EAW59065;EAW59066;EAW59067;NP_001159752;NP_001159753;NP_005583;O15146;XP_005252051;XP_005252052;XP_005252053 Hs.521653 2114930;2156706 D10S1235;SHGC-11655 MGC126323;MGC126324 OTTHUMP00000021899;OTTHUMP00000021900;muscle, skeletal receptor tyrosine-protein kinase;muscle-specific kinase receptor;muscle-specific tyrosine-protein kinase receptor APPROVED protein-coding ENSG00000030304 HGNC:7525 03190 601296;608931 REVIEWED 1344450 MUT methylmalonyl CoA mutase This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008] 6 6 6 p12.3 50954278 50987247 - 49398073 49431041 - 49430360 49463328 - 1580863;6480464;6907045;7240710;8699517;8554872 10923046;11350191;11528502;12402345;12477932;1346616;1351030;14574404;14654360;14718574;15489334;15643616;15781192;16281286;16344560;16641088;1670635;17113806;17401587;17410422;17445044;17597648;17728257;17957493;17966092;18940555;19088183;19744961;1977311;1980486;19806564;20031578;20186120;20301313;20301334;20301409;20800603;20852008;20876572;20877624;21138732;21604717;23045948;23311430;23824729;23873214;24458;2453061;24816145;2567699;2881300;2907507;6102092;6124211;7909321;7912889;8990001;9242908;9285782;9503014;9554742 4594 B2R6K1;P22033 AB208845;ABBA01050592;AK292568;AK312611;AL590668;AMYH02013709;BC016282;BT007434;BX647789;CA444307;CH471081;DA777441;DB290266;KF030882;M37510;M65131;NG_007100;NM_000255;XM_005249143 AAA59569;AAA99226;AAH16282;AAP36102;AGU16980;BAD92082;BAF85257;BAG35498;EAX04329;EAX04330;EAX04331;NP_000246;P22033;XP_005249200 Hs.485527 1679465;1699432;1744141;1855604;2108271;2120719;2120721;2129980;2153573;2172353;5015917;5016574;5120796 A002A07;G19840;GDB:375093;GDB:375109;GDB:391899;GDB:607719;MUT_8484;RH103307;RH17726;RH70345;RH75687;SHGC-35796;WI-20050 MCM OTTHUMP00000016578;methylmalonyl Coenzyme A mutase;methylmalonyl-CoA isomerase;methylmalonyl-CoA mutase, mitochondrial APPROVED protein-coding ENSG00000146085 HGNC:7526 02014 251000;609058 REVIEWED 1318053 MUM1 melanoma associated antigen (mutated) 1 ENCODES a protein that exhibits nucleosome binding; INVOLVED IN chromatin organization; DNA repair; PARTICIPATES IN ataxia telangiectasia-mutated (ATM) signaling pathway; FOUND IN nucleus; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene 19 19 19 p13.3 1289298 1312710 + 1354976 1378430 + 1354977 1378431 + 6480464;8661237 24326623 11042152;12477932;14702039;16344560;19322201;20347427;21145461;21424034;21569705;21623692;21720545;21890473;21903680;22158496;22169641;23824909;7644523;8889548 84939 J3KNX4;K7END0;K7EP97;K7ES53;Q2TAK8 ABBA01002641;AC004623;AC005329;AF151045;AK025936;AK027774;AK075241;AK309092;AK310721;AL360266;AMYH02035148;BC001806;BC008098;BC019585;BC021016;BC082987;BC110874;BC130443;BC144138;BC144147;BG723598;BI553935;BQ071619;BQ895780;BU541563;BU741593;CH471139;CR457395;DA739708;DN993266;NM_032853;NR_024247;U20896;U20897;U20908 AAC50238;AAC50239;AAC50240;AAF36131;AAH08098;AAH82987;AAI10875;AAI30444;AAI44139;BAB15287;BAB55357;BAC11493;CAB96179;CAG33676;EAW69509;EAW69511;EAW69512;EAW69513;EAW69514;NP_116242;Q2TAK8 Hs.515016 1672278;1846594;1852537;2118303;2132312 A005Z47;RH15936;RH48232;RH69253;SGC30849 EXPAND1;FLJ14868;FLJ22283;HSPC211;MGC131891;MGC163315;MUM-1 PWWP domain-containing protein MUM1;melanoma ubiquitous mutated protein;mutated melanoma-associated antigen 1;protein expandere protein-coding ENSG00000160953 HGNC:29641 14789 VALIDATED 1604253 MVB12A multivesicular body subunit 12A ENCODES a protein that exhibits lipid binding; ubiquitin binding; INVOLVED IN regulation of epidermal growth factor receptor signaling pathway; PARTICIPATES IN endocytosis pathway; FOUND IN aggresome; cytoplasm; cytosol; INTERACTS WITH cobalt dichloride; copper(2+) sulfate; cytarabine 19 19 19 p13.11 17432663 17437892 + 17516512 17536141 + 17420103 17425331 + 6480464;6907045 12477932;14702039;15489334;16895919;17853893;18005716;18029348;19056867;19531213;20654576;21139048;21832049;21906983;22232651;23000965;24284069;24816145 93343 E9PJW8;E9PLL0;E9PLZ8;E9PPW1;E9PQA6;M0QZK6;Q96EY5 ABBA01051200;AC010319;AK055623;AK057057;AK289487;AK311380;AMYH02035704;AX119123;BC007883;BC011840;BP394542;CD672349;CH471106;DR006745;HG510441;HG510444;NM_138401 AAH07883;AAH11840;BAF82176;CAC38635;EAW84604;EAW84605;NP_612410;Q96EY5 Hs.515243;Hs.729686 1659608;2144333 RH46896;STS-T53469 CFBP;FAM125A;FLJ32495 CIN85/CD2AP family binding protein;CIN85/CD2AP family-binding protein;CTD-2521M24.9;ESCRT-I complex subunit MVB12A;OTTHUMP00000232348;OTTHUMP00000232350;OTTHUMP00000232351;family with sequence similarity 125, member A APPROVED protein-coding ENSG00000141971 HGNC:25153 14298 VALIDATED 736074 MVD mevalonate (diphospho) decarboxylase The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 73788020 73799160 - 88718343 88729495 - 88651937 88663087 - 1580863;1300048;2316857;6480464;6907045 16876788 11792727;12477932;12646231;12736493;14680974;14972328;15489334;16169070;18660489;18823933;19913121;20628086;21139048;21906983;22505724;22863883;24250222;8626466;8769113;9270019 4597 H3BP35;H3BQ47;H3BRZ1;H3BVC4;P53602 AB209229;ABBA01015843;AC116552;AMYH02032641;AY203927;BC000011;BT006930;CH471184;NM_002461;U49260;XM_005256312;XM_006721192 AAC50440;AAH00011;AAP34450;AAP35576;ABM84650;ABM92179;BAD92466;EAW66790;EAW66791;EAW66792;NP_002452;P53602;XP_005256369;XP_006721255 Hs.252457 1725663;2109537;2137167;5016781 G62102;MVD_8513;SHGC-67307;STS-U49260 FP17780;MPD MDDase;OTTHUMP00000175197;diphosphomevalonate decarboxylase;mevalonate pyrophosphate decarboxylase;mevalonate pyrophosphate decarboxylase APPROVED protein-coding ENSG00000167508 HGNC:7529 04454 603236 REVIEWED 1320196 MVB12B multivesicular body subunit 12B The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 9 9 9 q33.3 99743357 99922950 + 129089123 129269320 + 126326844 126507041 + 6480464;6907045;8554872 11214971;12477932;14702039;15489334;16344560;17207965;17895996;18005716;19056867;20379614;20583170;20654576;21890473;22232651;23251661;23895345;24518671;8889548 89853 B7Z4X0;F8W922;Q9H7P6 ABBA01043809;ABBA01043810;ABBA01043811;ABBA01043812;AC006443;AJ420437;AK000001;AK024432;AK024441;AK293740;AK298023;AK307473;AMYH02021662;AMYH02021663;BC000122;BC028675;BC036326;BC041601;CH471090;CK300748;DA339911;NG_029787;NM_001011703;NM_033446;XM_005252297 AAH28675;ADQ32584;BAA92226;BAB15722;BAB15731;BAH11585;BAH12706;EAW87639;EAW87640;NP_001011703;NP_258257;Q9H7P6;XP_005252354 Hs.162659 1338966;1665881;1701348;1738279;1738919;1759489;1767545;2114307;2116749;2176204;2182269 1314;D3S3187;D9S1798;D9S315;IB578;RH104304;RH11731;RH70084;SHGC-150833;STS-N68722;WI-15136 C9orf28;FAM125B;FLJ00001 ESCRT-I complex subunit MVB12B;OTTHUMP00000022151;OTTHUMP00000022152;chromosome 9 open reading frame 28;family with sequence similarity 125, member B APPROVED protein-coding ENSG00000196814 HGNC:23368 12952 REVIEWED 732476 MVP major vault protein This gene encodes the major component of the vault complex. Vaults are multi-subunit ribonucleoprotein structures that may be involved in nucleo-cytoplasmic transport. The encoded protein may play a role in multiple cellular processes by regulating the MAP kinase, JAK/STAT and phosphoinositide 3-kinase/Akt signaling pathways. The encoded protein also plays a role in multidrug resistance, and expression of this gene may be a prognostic marker for several types of cancer. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] 16 16 16 p11.2 72936886 72964474 - 29831715 29859360 + 29820394 29848039 + 6480464;8554872 10404077;10439368;10477748;10551828;11071864;11297743;11855821;11937269;11940320;11986335;11986944;12177006;12477932;12576456;12612883;12622134;12919388;14636345;14695705;15133037;15272088;15379935;15489334;15588985;15592455;15709737;15750632;15902504;15952572;15994960;16344560;16373071;16396496;16418217;16441665;16566920;16614510;16815308;17134750;17178862;17337707;17415755;17438350;17615361;17875533;18029348;18200595;18599112;18600231;18615555;18671966;18809583;18972317;19056867;19080004;19335069;19472297;19615260;19660100;19875192;19946888;19969624;20555386;21044367;21139048;21344396;21683962;21793937;21829365;21890473;21906983;21988832;22040803;22117969;22235652;22261339;22391170;22586326;22863883;22931894;22939629;23000965;23178631;23525731;23590642;23739867;23751308;23820674;24173679;24243798;24722188;25027693;25117710;7585126;7671223;8763338;8774142;8879378;9029166;9628887 9961 B4DP93;B4DVL1;H3BNF2;H3BNF6;H3BP76;H3BPZ2;H3BQE7;H3BQK6;H3BRL2;H3BUK7;H3BUP3;I3L155;Q14764;X5D2M8 ABBA01013117;AC009133;AC120114;AC243914;AC244166;AJ238509;AJ238510;AJ238511;AJ238512;AJ238513;AJ238514;AJ238515;AJ238516;AJ238517;AJ238518;AJ238519;AJ291365;AJ291366;AJ291367;AK293302;AK298238;AK301130;AK302052;AK310168;BC008932;BC015623;BM999583;BQ932800;BU151678;CH471238;DA842337;DA940597;KJ534884;KJ534885;KJ534886;KJ534966;KJ534975;KJ534976;KJ534990;KJ535063;NM_001293204;NM_001293205;NM_005115;NM_017458;X79882 AAH15623;ABM87351;ABW03877;AHW56524;AHW56525;AHW56526;AHW56606;AHW56615;AHW56616;AHW56630;AHW56702;BAG56823;BAG60505;BAG62723;BAG63442;CAA56256;CAB55354;CAB55355;CAC35313;CAC35314;CAC35316;EAW79979;EAW79980;EAW79981;EAW79982;EAW79983;EAW79984;EAW79985;EAW79986;EAW79987;NP_001280133;NP_001280134;NP_005106;NP_059447;Q14764 Hs.632177 1678673;1854457;7184855 D16S3210;D16S383;RH68580 LRP;VAULT1 OTTHUMP00000045913;lung resistance-related protein APPROVED protein-coding ENSG00000013364 HGNC:7531 05475 605088 REVIEWED 732031 MVK mevalonate kinase This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 12 12 12 q24 109635867 109659439 + 110011500 110035071 + 109573695 109597266 + 1600528;1580863;1300048;2316857;6480464;6907045;7240710;8554872;8699517 1377680;16876788 10369261;10369262;10401001;10417275;11111075;11313768;11313769;12444096;12477733;12477932;12634869;1356376;14680974;14702039;14730012;14749336;15037710;15188372;15489334;15536479;16189514;16234278;16732551;16806233;17213252;17978300;18029348;18193043;18302342;18494797;18512793;18660489;18941711;19060906;19148283;19487539;19605566;20159775;20160193;20194276;20430392;20677014;20686565;20714348;20814828;20864672;20972250;21044950;21124859;21139048;21147848;21430599;21548022;22038276;22159817;22271696;22863883;22939629;22983302;23333304;23834120;24008101;24064360;24084495;24097068;6255462;8302606;9146921;9325256;9392419;9464248 4598 B2RDU6;B7Z1C2;F5GXC0;F5H092;F5H163;F5H368;F5H8H2;Q03426 AB209722;ABBA01005069;AC007570;AF033345;AF217535;AF217536;AK023087;AK293130;AK295338;AK315678;AMYH02027172;BC016140;CH471054;DC421549;FJ515860;M88468;NG_007702;NM_000431;NM_001114185;NM_001301182;R51202;XM_005253883;XM_005253884 AAB59362;AAF82406;AAF82407;AAH16140;ABM82015;ABM85197;ACS13750;ACS13751;BAD92959;BAG38043;BAH11458;BAH12037;EAW97870;EAW97871;EAW97872;EAW97873;NP_000422;NP_001107657;NP_001288111;Q03426;XP_005253940;XP_005253941 Hs.130607 1657042;1685107;1686676;1796372;2164189 A001U02;MVK_377;RH35869;RH92084;STS-N30046 FLJ96772;LRBP;MK;MVLK;POROK3 LH receptor mRNA-binding protein;OTTHUMP00000240572;OTTHUMP00000240575;mevalonate kinase 1 APPROVED protein-coding ENSG00000110921 HGNC:7530 02015 175900;251170;260920;610377 REVIEWED 1323679 MUS81 MUS81 structure-specific endonuclease subunit ENCODES a protein that exhibits 3'-flap endonuclease activity; INVOLVED IN DNA catabolic process, endonucleolytic; DNA repair; response to intra-S DNA damage checkpoint signaling; PARTICIPATES IN homologous recombination pathway of double-strand break repair; ASSOCIATED WITH Melanoma (inferred); FOUND IN intercellular bridge; nucleus; INTERACTS WITH cobalt dichloride; diazinon; rotenone 11 11 11 q13 62951778 62957820 + 65627872 65633914 + 65860401 65866443 + 1580863;6480464;6907045;8554872 11073977;11741546;12374758;12477932;12686547;12721304;14617801;14638871;14702039;15489334;15805243;16344560;16456034;17289582;17555773;17903171;17934473;18054789;18310322;18413719;18841572;18852298;18854154;19017809;19124506;19363487;19394292;19595721;19596235;19596236;19714462;20522537;20610542;20800603;21175991;21187482;21240275;21858151;21859861;21962513;22123861;22410776;22902628;23093618;23361013;23535729;23811685;23982516;23994477;24012755;24035498;24076221;24080495;24412650;24692662;24733841;8125298 80198 E9PII7;E9PL60;E9PRI1;H0YDE3;H0YDK3;H0YDU2;H0YE94;Q53ES5;Q96NY9 ABBA01024098;AF425646;AK024665;AK095326;AK126820;AK223564;AL353934;AMYH02024966;AP001201;AP001266;BC009999;BI816797;CH471076;DA449863;NM_025128;XM_005274307;XR_247212 AAH09999;AAL28065;BAB14953;BAD97284;BAG54375;CAH56369;EAW74453;EAW74454;NP_079404;Q96NY9;XP_005274364 Hs.288798 1682217;1724695;2114485;2114524;2123360;2148752;2159266 D11S2297E;IB1075;RH122549;RH27343;RH36142;STS-R09524;WI-18484 FLJ21012;FLJ44872;SLX3 MUS81 endonuclease homolog;OTTHUMP00000233867;OTTHUMP00000233868;OTTHUMP00000233869;OTTHUMP00000233949;SLX3 structure-specific endonuclease subunit homolog;crossover junction endonuclease MUS81;mus81 endonuclease homolog (yeast) APPROVED protein-coding ENSG00000172732 HGNC:29814 09419 606591 VALIDATED 1353561 MX1 MX dynamin-like GTPase 1 This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that participates in the cellular antiviral response. The encoded protein is induced by type I and type II interferons and antagonizes the replication process of several different RNA and DNA viruses. There is a related gene located adjacent to this gene on chromosome 21, and there are multiple pseudogenes located in a cluster on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 21 21 21 q22.3 27990716 28029320 + 42792520 42831141 + 41420558 41459214 + 1580863;6480464;6907045 10590150;10830953;10942113;10971132;11716541;11805446;11847228;11880649;11911186;11916975;12447867;12477932;12539042;12595530;12867637;12944978;14499622;14687945;14702039;14752052;14872030;15047845;15063762;15117331;15135736;15163707;15221897;15355513;1548781;15489334;15602733;15757897;15766558;15850793;16009940;16168514;16202617;1629950;16344560;16390004;16413306;16459719;16595158;16704297;16712791;1674496;16769349;16780588;16792864;16824203;16843495;16894313;16978069;17075576;17126411;17177148;17307214;17374778;17407708;17570575;17845304;17947524;18549400;18668195;18676680;18782441;18843779;19109387;19170196;19177264;19236454;19297326;19434718;19462904;19625176;19625466;19635103;19692168;19744071;19817957;20019841;20237496;20309637;20331378;20428112;20462354;20494980;20538602;20588308;20603636;20628624;20921509;20959021;21166595;2154602;2161946;21645334;21832049;21859714;21900240;21906983;21918813;21935451;21962493;21992152;22340769;22507598;22531919;22647704;22714910;22950423;22985419;22998463;23015724;23084925;23115279;23152507;23160781;23232524;23274784;23382691;23438650;23529855;23831963;24049170;24085612;24212839;24314641;24421397;24448803;2481229;24899177;25015289;2607176;3162334;8125298;8411374;8798556;9060610;9093949;9389754;9735310;9933640 4599 F8W8T1;H9KVC3;H9KVC4;H9KVC7;H9KVC9;H9KVD0;H9KVD3;P20591 A00209;ABBA01044663;AC005612;AF135187;AK093008;AK096355;AK225885;AK315465;AL163285;AL773570;AL773577;AL773578;AMYH02037857;AP001610;AY186254;BC014222;BC032602;BC052255;CB151486;CH471079;DA351922;DA726666;EB388095;KC877894;L35664;L35666;L35669;L35671;L35672;L35673;M30817;M33882;NG_027788;NM_001144925;NM_001178046;NM_001282920;NM_002462;XM_005260978;XM_005260979;XM_005260980;XM_005260981;XM_005260982;XM_006724005 AAA36337;AAA36458;AAD43063;AAH14222;AAH32602;AAO31807;ADZ15946;BAC04017;BAG37852;BAG53272;CAA00041;CAB90556;EAX09600;EAX09601;EAX09602;EAX09603;EAX09604;NP_001138397;NP_001171517;NP_001269849;NP_002453;P20591;XP_005261035;XP_005261036;XP_005261037;XP_005261038;XP_005261039;XP_006724068 Hs.517307 1338345;1658682;1741767;1742139;1759429;1771308;1792568;1794006;1794008;1794582;1797890;2150175;2158253;5017853;5022588 D21S1260;D5S1597E;GDB:185157;GDB:192322;MX1;MX1_1629;PMC154027P2;PMC310729P8;PMC310729P9;PMC321570P12;RH70302;SHGC-2323;SHGC-5964;SHGC-6908;SHGC-87654 IFI-78K;IFI78;MX;MxA OTTHUMP00000109248;OTTHUMP00000109249;OTTHUMP00000109250;interferon inducible protein p78;interferon-induced GTP-binding protein Mx1;interferon-induced protein p78;interferon-inducible protein p78;interferon-regulated resistance GTP-binding protein MxA;myxoma resistance protein 1;myxovirus (influenza virus) resistance 1, interferon-inducible protein p78;myxovirus resistance protein 1 APPROVED protein-coding ENSG00000157601 HGNC:7532 00919 147150 REVIEWED 1351646 MXRA1 matrix-remodelling associated 1 54594 HGNC:7535 734323 MXD3 MAX dimerization protein 3 This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008] 5 5 5 q35.3 171762037 171768860 + 176732501 176741096 - 177305500 177312291 - 6480464;8554872 10229200;10593926;10918583;12477932;14702039;15489334;16189514;16341674;16908182;17893326;18235219;21906983;21987572;22703881;22808009;23251661;7694229;8125298;8255759;8521822;9184233;9506959;9528857 83463 B4E0J1;D6RD21;D6RED4;Q9BW11 ABBA01033458;AC146507;AF114834;AK057034;AK092842;AK222579;AK303397;AK316468;AL522759;AL833959;AMYH02012833;BC000745;BC032586;BC041690;BM849150;BU620484;CH471195;NM_001142935;NM_031300 AAH00745;AAH32586;AAP97233;ABM83660;ABM86907;ABM87212;BAB71352;BAC03987;BAD96299;BAG64453;BAH14839;CAD38809;EAW85016;EAW85017;EAW85018;EAW85019;EAW85020;NP_001136407;NP_112590;Q9BW11 Hs.743332 1682039;2144299;5019557;5126215 G09547;G54137;RH69707;STS-N94309 BHLHC13;FLJ35523;MAD3;MGC2383;MYX Max-associated protein 3;Max-interacting transcriptional repressor MAD3;OTTHUMP00000161446;OTTHUMP00000223594;OTTHUMP00000223595;OTTHUMP00000223596;OTTHUMP00000223598;class C basic helix-loop-helix protein 13;max dimerizer 3 APPROVED protein-coding ENSG00000213347 HGNC:14008 14791 609450 REVIEWED 736546 MXI1 MAX interactor 1, dimerization protein Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008] 10 10 10 q24-q25 105699035 105778792 + 111967288 112047123 + 110207605 110287365 + 1298988;1600205;1600204;1580863;6480464;7240710;8554872 10470286;10849326;7773287 10229200;10497252;10593926;11351349;11498788;11875718;12477932;14559981;15121849;15164054;15467743;15476185;15548375;15809730;16126174;16385451;17102621;17452451;17577784;17697116;18457265;19010793;19018165;19254710;20946988;21832049;21937719;21987572;22053931;23254855;23955597;24250222;24376632;24403858;7565735;7789959;7889571;7954804;7959753;8290278;8425219;8838813;8889548;8918230;9184233;9528857;9624006;9669667 4601 B1ANN8;F6U3F6;F6WCI9;P50539 AA640393;AA854855;ABBA01063032;ABBA01063033;ABBA01063034;AI373426;AI580132;AK303949;AK307090;AK309718;AL360182;AL538051;AMYH02023794;AMYH02023795;AMYH02023796;AW291670;AY576484;BC012907;BC016678;BC035128;BF056857;BG700036;BM668806;BM927870;BQ924073;BT007069;BX417051;CB960506;CF594363;CH471066;CR536576;D63940;NG_012103;NM_001008541;NM_005962;NM_130439;S78470;U32512;U32513;U32514;U32515 AAC50446;AAD14282;AAH12907;AAH35128;AAP35732;AAT84074;ABM82590;ABM85777;BAA09972;BAG64876;CAG38813;EAW49565;EAW49566;EAW49567;EAW49568;EAW49569;EAW49570;NP_001008541;NP_005953;NP_569157;P50539 Hs.602078;Hs.728542 1714757;1718765;1725579;1729673;1743211;1743213;1755465;1771321;1791264;1856714;2111015;2116930;2123581;2169036 D10S173;D10S479E;G15973;G62013;GDB:303956;GDB:303982;MARC_9667-9668:996688506:1;RH120044;RH123073;RH17603;RH46377;SHGC-142331;SHGC-58233;WI-9336 MAD2;MGC43220;MXD2;MXI;bHLHc11 MAX dimerization protein 2;Max-related transcription factor;OTTHUMP00000020465;OTTHUMP00000020466;OTTHUMP00000020467;OTTHUMP00000020468;OTTHUMP00000020469;OTTHUMP00000020470;OTTHUMP00000020471;OTTHUMP00000020472;OTTHUMP00000020473;class C basic helix-loop-helix protein 11;max interacting protein 1;max-interacting protein 1 APPROVED protein-coding ENSG00000119950 HGNC:7534 02486 176807;600020 REVIEWED 1348886 MXRA2 matrix-remodelling associated 2 54593 HGNC:7536 1312919 MXD4 MAX dimerization protein 4 This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 2161509 2176088 - 2249160 2263739 - 2247432 2262143 - 1580863;6480464 10229200;10593926;11073985;11230181;12418961;12477932;14702039;15469726;15489334;15815621;15862967;16167342;21906983;21963094;21988832;22895069;8521822;9528857 10608 D6RGV1;H0Y8Z5;Q14582 ABBA01029515;ABBA01029516;ABBA01029517;AF040963;AF082740;AF187724;AK024501;AK026392;AL158068;AMYH02008604;BC002713;BC028340;BC068060;BT019969;BT019970;CH471131;NM_006454;XR_427467;Z49250;Z68282 AAB97009;AAF98553;AAH02713;AAH68060;AAQ13695;AAV38772;AAV38773;BAB15791;CAA89217;EAW82530;EAW82531;EAW82532;EAW82533;EAW82534;EAW82535;EAW82536;NP_006445;Q14582 Hs.655020 1774992;1856070;2110585;2143091 G22538;MXD4__6182;SHGC-59766;SHGC-59834 MAD4;MST149;MSTP149;bHLHc12 Mad4 homolog;OTTHUMP00000115253;class C basic helix-loop-helix protein 12;max dimerizer 4;max-associated protein 4;max-interacting transcriptional repressor MAD4 APPROVED protein-coding ENSG00000123933 HGNC:13906 10103 REVIEWED 1350968 MXRA3 matrix-remodelling associated 3 54592 HGNC:7537 1348274 MXRA4 matrix-remodelling associated 4 54591 HGNC:7538 1351068 MX2 MX dynamin-like GTPase 2 The protein encoded by this gene has a nuclear and a cytoplasmic form and is a member of both the dynamin family and the family of large GTPases. The nuclear form is localized in a granular pattern in the heterochromatin region beneath the nuclear envelope. A nuclear localization signal (NLS) is present at the amino terminal end of the nuclear form but is lacking in the cytoplasmic form due to use of an alternate translation start codon. This protein is upregulated by interferon-alpha but does not contain the antiviral activity of a similar myxovirus resistance protein 1. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 27932197 27979096 + 42733918 42780870 + 41362023 41408943 + 1580863;6480464;8554872 10830953;12477932;14702039;15184662;15489334;17702266;18029348;18517045;19236454;19913121;20237496;20331378;20494980;20628086;2154602;21906983;21983787;23867815;24048477;24055605;24121441;24139395;24760893;2481229;24899177;3162334;8798556;9208807;9405443 4600 C9J9T4;C9JEL4;C9JS04;C9JZQ9;P20592 ABBA01044663;AC004497;AC004508;AK122952;AK127895;AK298780;AK308060;AL163285;AL773578;AMYH02037857;AY312582;BC035293;CH471079;KF457326;M30818;M33883;NM_002463;XM_005260983;XM_005260984;XM_006724006 AAA36338;AAA36459;AAC08448;AAC08451;AAH35293;ABM83042;ABM86237;BAH12869;CAB90555;EAX09605;EAX09606;EAX09607;NP_002454;P20592;XP_005261040;XP_005261041;XP_006724069 Hs.926 1660173;1742121;1794004;1796374;2177564;2177566;5017853 D21S1826;G34721;GDB:191983;MX1;MX2_216;PMC310729P7;STS-M30818 MXB OTTHUMP00000109242;interferon-induced GTP-binding protein Mx2;interferon-regulated resistance GTP-binding protein MXB;myxovirus (influenza virus) resistance 2;myxovirus resistance protein 2;p78-related protein;second interferon-induced protein p78 APPROVED protein-coding ENSG00000183486 HGNC:7533 01001 147890 REVIEWED 1344277 MXRA5 matrix-remodelling associated 5 This gene encodes one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudogene on chromosome Y. [provided by RefSeq, Mar 2010] X X X p22.33 7506768 7545904 - 3226606 3265133 - 3308565 3347092 - 6480464;8554872 12101425;12477932;15203218;15489334;15609104;19056867;21906983;22696596;22808956 25878 Q9NR99 ABBA01038677;ABBA01038678;ABBA01038679;ABBA01038680;ABBA01038681;ABBA01038682;AC004616;AF245505;AL049946;AMYH02038724;AMYH02038725;AMYH02038726;BC011846;BC064986;BC080586;CD626974;CH471074;NG_021336;NM_015419;XM_005274485 AAF86402;AAH11846;AAH64986;AAH80586;CAB43220;EAW98724;NP_056234;Q9NR99;XP_005274542 Hs.369422 1677965;1733566;5022790 DXS6779;MXRA5;RH98596 DKFZp564I1922 OTTHUMP00000022860;adhesion protein with leucine-rich repeats and Immunoglobulin domains related to perlecan;adlican;matrix-remodeling-associated protein 5 APPROVED protein-coding ENSG00000101825 HGNC:7539 06456 REVIEWED 1353240 MXRA6 matrix-remodelling associated 6 12477932 54589 Q7Z2G4;Q7Z2S0 AF172820;AF173897;AF176917;BC063142 AAQ13614;AAQ13644;AAQ13661;Q7Z2G4;Q7Z2S0 Hs.471381 DKFZp586K0617;MST091;MST122;MST127;MSTP091;MSTP122;MSTP127 protein-coding HGNC:7540 1353608 MXD1 MAX dimerization protein 1 This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 2 2 2 p13-p12 69993381 70021239 + 70142173 70170077 + 69915041 69942945 + 6480464 10229200;10551834;10593926;10723141;10918583;11031250;11101889;11106735;11230181;11370785;11430826;11602341;12366697;12391307;12477932;12538578;12553908;12824180;15235594;15282543;15489334;15645079;15815621;16140957;16596619;17082780;17418410;17577784;17998413;18029348;18082613;18155722;18203738;18451027;18457265;19526459;19762557;19766114;20547842;21832049;23112173;7829091;7889570;8224841;8290278;8425218;9150133;9150134;9528857;9886493 4084 B7ZLI7;C9JBE8;F8WBI0;Q05195 ABBA01075517;AC019206;AK301088;AK312734;AMYH02004030;BC036402;BC051693;BC069377;BC069433;BC098396;BC113531;BC117260;BC143831;BC143832;BC144601;CH471053;CR536495;CR541692;DB445256;DC347823;L06895;NM_001202513;NM_001202514;NM_002357 AAA36194;AAH69377;AAH69433;AAH98396;AAI13532;AAI17261;AAI43832;AAI43833;AAY14867;ADR83500;BAG35605;BAH13406;CAG38734;CAG46493;EAW99838;EAW99839;NP_001189442;NP_001189443;NP_002348;Q05195 Hs.468908 1743215;1777838;2108225;2135095;2146558 D2S2554;GDB:303985;MAD_8449;RH68991;RH78840 MAD;MAD1;MGC104659;bHLHc58 MAD protein (MAX-binding protein);MAX-binding protein;OTTHUMP00000160049;OTTHUMP00000202211;antagonizer of myc transcriptional activity;max dimerizer 1 APPROVED protein-coding ENSG00000059728 HGNC:6761 02487 600021 REVIEWED 1605571 MYADML myeloid-associated differentiation marker-like (pseudogene) 2 2 2 p22.3 33789838 33791994 - 33951128 33953284 - 33726061 33728217 - 12477932;14702039;16344560;22116950 151325 ABBA01074909;AC093393;AK057470;AMYH02003571;BC031088;BC038980;CH471053;DB059579;NR_003143 AAY24031;BAB71502;EAX00429 Hs.528847 2103318 stSG605612 APPROVED pseudo ENSG00000239649 HGNC:31019 14793 VALIDATED 2303467 MYADML2 myeloid-associated differentiation marker-like 2 FOUND IN cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); C60 fullerene (ortholog); cerium trichloride (ortholog) 17 17 17 q25.3 76501561 76509155 - 79897521 79905109 - 81939645 81947233 - 6480464 11181995;12477932;18854154;8889548 255275 A6NDP7 ABBA01019654;ABBA01019655;AC137723;AC145207;AMYH02034146;BC029306;BM674638;CH471099;NM_001145113 A6NDP7;EAW89727;NP_001138585 Hs.729645 OTTHUMP00000205585;myeloid-associated differentiation marker-like protein 2 protein-coding ENSG00000185105 HGNC:34548 VALIDATED 1626570 MXRA5Y matrix-remodelling associated 5, Y-linked, pseudogene X Y Y q11.21 1049802 1081211 + 14077883 14109289 + 11957177 11988583 + 12815422 286544 ABBA01065703;ABBA01065704;ABBA01065705;ABBA01065706;ABBA01065707;ABBA01065708;ABBA01065709;AC011302;NG_002806 1777868;2133879 DYS271;DYS391 MXRA5P;MXRA5P1 ADLICANP APPROVED pseudo HGNC:23932 INFERRED 6481454 MYB-AS1 MYB antisense RNA 1 q23.3 100873904 AL023693;BX090126 Hs.604125 MYB-AS;NCRNA00209;RP1-32B1.3 MYBAS APPROVED ncrna HGNC:37457 731074 MUTYH mutY homolog This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p34.1 44078292 44089518 - 45794914 45806142 - 45329242 45340470 - 1600191;1600201;1580863;6480464;6907045;7240710;8554872;8699517 11818965;15273732 10471731;10583946;10684930;11092888;11554314;11801590;11805113;12056405;12393807;12477932;12606733;12707038;12807753;12853198;12966098;14961129;14991577;14999774;15034862;15146197;15188161;15236166;15290654;15366000;15449173;15450125;15489334;15523092;15635083;15673720;15690400;15761860;15890374;15931596;15943555;16042573;16134146;16169070;16287072;16292541;16408224;16492928;16521226;16557584;16600130;16609022;16645203;16710414;16773329;16774938;16804517;16831587;16890597;16938257;16941501;17031395;17039270;17081686;17203305;17207658;17219200;17219385;17220334;17252231;17417778;17489848;17505512;17674103;17703316;17920897;17931073;17949294;17956577;18022921;18027849;18029348;18091433;18155253;18172263;18186383;18271935;18294051;18298557;18301448;18383848;18422726;18454351;18495334;18503156;18515411;18534194;18564191;18612690;18776649;18811933;18823566;18848840;18980800;19000687;19029194;19032956;19161591;19245865;19279422;19300419;19307499;19338676;19394335;19399402;19443904;19527492;19531215;19593690;19620482;19672709;19685280;19692168;19732775;19793053;19820168;19836313;19902366;19932167;19953527;20110747;20149637;20150366;20191381;20226869;20364408;20418187;20453000;20522537;20570909;20571908;20574454;20618354;20625837;20628285;20640893;20663686;20687945;20724227;20725929;20843780;20848659;20877624;20924072;20924129;20939750;21044966;21061173;21063410;21112374;21171015;21279954;21287799;21355073;21424714;21443744;21615992;21777424;21826668;21846783;21900687;21901162;21952991;21962078;22053931;22103048;22126480;22266422;22297469;22371070;22469480;22469746;22473953;22641385;22678362;22744763;22780951;22809968;22851115;22865608;22926731;22976915;23007840;23035301;23108399;23322991;23396182;23499241;23561487;23605219;23618615;23755828;23788249;23936466;24039736;24209961;24315136;24443563;24444654;24816145;3032244;3196692;7823963;8682794;9611236 4595 D3DPZ6;E5KP25;E5KP26;E5KP27;E5KP28;E9PI11;E9PIW5;E9PKM9;E9PLT4;E9PM53;E9PMH1;E9PNY0;E9PP30;E9PP34;H0YCA8;H0YCY5;H0YEI2;H0YER6;Q5T413;Q5T418;Q9UIF7 AB025227;AB032920;AB032921;AB032922;AB032923;AB032924;AB032925;AB032926;AB032927;AB032928;AB032929;AB048788;ABBA01050882;ABBA01050883;AF527839;AK293830;AL359540;AL560568;AMYH02000924;BC003178;BI818560;BM926983;CH471059;CN413115;HQ205466;HQ205468;HQ205469;HQ205470;HQ205472;HQ205473;HQ205474;HQ205475;HQ205476;HQ205477;HQ205479;HQ205480;HQ205481;HQ205482;HQ205483;HQ205484;HQ205485;HQ205486;HQ205487;HQ205488;HQ205489;HQ205490;HQ205491;HQ205492;HQ205493;HQ205494;HQ205495;HQ205496;HQ205497;HQ205498;HQ205499;HQ205500;HQ205501;HQ205502;HQ205503;HQ205505;HY094590;NG_008189;NM_001048171;NM_001048172;NM_001048173;NM_001048174;NM_001128425;NM_001293190;NM_001293191;NM_001293192;NM_001293195;NM_001293196;NM_012222;U63329;XM_005270880;XM_005270881;XM_005270884;XM_005270885;XM_006710648;XM_006710649;XM_006710650;XM_006710651;XM_006710652 AAC50618;AAH03178;AAM78555;ADP90934;ADP90935;ADP90936;ADP90937;ADP90938;ADP90944;ADP90945;ADP90946;ADP90947;ADP90948;ADP90949;ADP90950;ADP90951;ADP90952;ADP90953;ADP90954;ADP90955;ADP90956;ADP90957;ADP90958;ADP90964;ADP90965;ADP90966;ADP90967;ADP90968;ADP90969;ADP90970;ADP90971;ADP90972;ADP90973;ADP90974;ADP90975;ADP90976;ADP90977;ADP90978;ADP90979;ADP90980;ADP90981;ADP90982;ADP90983;ADP90984;ADP90985;ADP90986;ADP90987;ADP90988;ADP90989;ADP90990;ADP90991;ADP90992;ADP90993;ADP90999;ADP91000;ADP91001;ADP91002;ADP91003;ADP91004;ADP91005;ADP91006;ADP91007;ADP91008;ADP91009;ADP91010;ADP91011;ADP91012;ADP91013;ADP91014;ADP91015;ADP91016;ADP91017;ADP91018;ADP91019;ADP91020;ADP91021;ADP91022;ADP91023;ADP91024;ADP91025;ADP91026;ADP91027;ADP91028;ADP91029;ADP91030;ADP91031;ADP91032;ADP91033;ADP91034;ADP91035;ADP91036;ADP91037;ADP91038;ADP91039;ADP91040;ADP91041;ADP91042;ADP91043;ADP91044;ADP91045;ADP91046;ADP91047;ADP91048;ADP91049;ADP91050;ADP91051;ADP91052;ADP91053;ADP91054;ADP91055;ADP91056;ADP91057;ADP91058;ADP91059;ADP91060;ADP91061;ADP91062;ADP91063;ADP91064;ADP91065;ADP91066;ADP91067;ADP91068;ADP91069;ADP91070;ADP91071;ADP91072;ADP91073;ADP91074;ADP91075;ADP91076;ADP91077;ADP91078;ADP91079;ADP91080;ADP91081;ADP91082;ADP91083;ADP91084;ADP91085;ADP91086;ADP91087;ADP91088;ADP91089;ADP91090;ADP91091;ADP91092;ADP91093;ADP91094;ADP91095;ADP91096;ADP91097;ADP91098;ADP91099;ADP91100;ADP91101;ADP91102;ADP91103;ADP91104;ADP91105;ADP91106;ADP91107;ADP91108;ADP91109;ADP91110;ADP91111;ADP91112;ADP91113;ADP91114;ADP91115;ADP91116;ADP91117;ADP91118;ADP91119;ADP91120;ADP91121;ADP91122;ADP91123;ADP91129;ADP91130;ADP91131;ADP91132;ADP91133;BAA84104;BAA89336;BAA89337;BAA89338;BAA89339;BAA89340;BAA89341;BAA89342;BAA89343;BAA89344;BAA89345;BAB86886;BAG57233;EAX06991;EAX06992;EAX06993;EAX06994;EAX06995;EAX06996;EAX06997;EAX06998;EAX06999;EAX07000;EAX07001;NP_001041636;NP_001041637;NP_001041638;NP_001041639;NP_001121897;NP_001280119;NP_001280120;NP_001280121;NP_001280124;NP_001280125;NP_036354;Q9UIF7;XP_005270937;XP_005270938;XP_005270941;XP_005270942;XP_006710711;XP_006710712;XP_006710713;XP_006710714;XP_006710715 Hs.271353 5096347 RH71246 CYP2C;MGC4416;MYH;hMYH A/G-specific adenine DNA glycosylase;OTTHUMP00000009096;OTTHUMP00000009097;OTTHUMP00000009098;OTTHUMP00000009099;OTTHUMP00000009100;OTTHUMP00000009101;OTTHUMP00000009102;OTTHUMP00000009103 APPROVED protein-coding ENSG00000132781 HGNC:7527 05380 132600;137215;604933;608456;613659 REVIEWED 1348883 MXRA7 matrix-remodelling associated 7 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3-dimethoxynaphthalene-1,4-dione; 2-methylcholine; arsenous acid 17 17 17 q25.1 71264179 71299424 - 74669748 74707056 - 76673666 76710974 - 6480464 12477932;14702039;15489334;16625196;19322201;21139048;21906983;23000965;23776548 439921 K7EPS4;K7EQX8;P84157;Q6ZR64 ABBA01028731;ABBA01028732;ABBA01028733;ABBA01028734;AC005837;AK097108;AK123486;AK127801;AK128460;AMYH02034020;AW131567;AW888225;AY426672;AY646229;BC053983;BC059951;BC094776;BC094872;BE205810;BE502793;CA422561;CB993617;CH471099;NM_001008528;NM_001008529;NM_198530;XM_005257382;XM_005257383;XM_005257384 AAH53983;AAR88426;AAT66918;BAC87451;EAW89425;EAW89426;EAW89427;EAW89428;NP_001008528;NP_001008529;NP_940932;P84157;XP_005257439;XP_005257440;XP_005257441 Hs.250723;Hs.597019;Hs.655266 1650478;1661857;1681853;1689272;1700376;5015881;5015961;5016478;5017170;5022450;5022588 Bda94c06;D10S275;D15S1477;D17S2160;D5S1597E;GDB:335751;GDB:434012;L29953;RH103808;RH65098;RH94020 FLJ41492;FLJ46603;PS1TP1;TMAP1 HBV PreS1-transactivated protein 1;matrix-remodeling-associated protein 7;transmembrane anchor protein 1 protein-coding ENSG00000182534 HGNC:7541 18199 VALIDATED 1353717 MYADM myeloid-associated differentiation marker INVOLVED IN establishment of endothelial barrier; membrane raft organization; negative regulation of actin filament polymerization; FOUND IN cell-cell junction; cortical actin cytoskeleton; extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 19 19 19 q13.42 51410687 51420740 + 54369611 54379689 + 53866357 53876435 + 1302485;1580863;6480464 10733104 12075932;12477932;12975309;14702039;15146197;15489334;15900300;16303743;17097684;19322201;21139048;21325632;23264465 91663 C9J5M0;C9JC07;C9JJV6;C9JZL8;Q96S97 ABBA01068190;AC008440;AF087882;AI074232;AK027693;AK075276;AK093999;AK294400;AK316566;AL357205;AL524210;AMYH02036434;AX775819;AY037147;AY358582;BC013995;BC095412;BQ430033;BQ716724;BX393859;CH471135;CN277531;CN284532;CQ783403;CQ859714;DA027466;DA472260;DA677314;DA948116;DB448983;DC379591;HY124929;NM_001020818;NM_001020819;NM_001020820;NM_001020821;NM_001290188;NM_001290189;NM_001290190;NM_001290191;NM_001290192;NM_001290193;NM_001290194;NM_138373 AAH13995;AAH95412;AAK67628;AAP97182;AAQ88945;BAB55302;BAC04265;BAC11513;BAG38155;BAG57653;CAE11609;CAF86608;CAH25907;EAW72159;EAW72160;NP_001018654;NP_001018655;NP_001018656;NP_001018657;NP_001277117;NP_001277118;NP_001277119;NP_001277120;NP_001277121;NP_001277122;NP_001277123;NP_612382;Q96S97 Hs.380906 1799804;1803008;1804948;1820540;1823124;1823752;1827314;1832342;1833368;1840106;1842982;1844226;1845846;1849388;2103308;2103310;2103312;2103314;2103316;2103318;2131907;2154312;2167606;2169654 A006V21;ECD00756;ECD02395;ECD03413;ECD11345;ECD12650;ECD12968;ECD14772;ECD17310;ECD17827;ECD21237;ECD22699;ECD23326;ECD24142;RH11539;RH48536;RH68540;WI-17997;stSG605605;stSG605606;stSG605609;stSG605610;stSG605611;stSG605612 SB135 OTTHUMP00000067222;OTTHUMP00000067223;OTTHUMP00000067224;OTTHUMP00000067225;OTTHUMP00000067285;OTTHUMP00000067286;OTTHUMP00000197721;myeloid upregulated protein protein-coding ENSG00000179820 HGNC:7544 14792 609959 VALIDATED 1315840 MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1 ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN interleukin-4 signaling pathway; FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 8 8 8 q13.1 63467407 63518475 - 67474410 67525484 - 66562175 66613249 - 1580863;6480464;6484113 10660576;12477932;16055500;17531812;18029348;20360068;2065336;21890473;23633565;3060855;7821437;7987850;8058310;9210395 4603 E7EWZ1;P10243;Q495G0 ABBA01041872;ABBA01041873;AC083928;AK308490;AMYH02018106;AMYH02018107;AMYH02018108;BC032233;BC046930;BC069252;BC101186;BC101187;BC101188;CH471068;CN482561;DR003430;NM_001080416;NM_001144755;NM_001294282;S75881;X13294;X66087;XM_005251251;XM_006716450;XM_006716451;XM_006716452 AAB32716;AAH32233;AAI01187;AAI01189;CAA31656;CAA46886;EAW86912;EAW86913;NP_001073885;NP_001138227;NP_001281211;P10243;XP_005251308;XP_006716513;XP_006716514;XP_006716515 Hs.445898 1658089;1701534;1731931;1769576;2108273;2128640;2153172;2181532 D8S578;G10655;MYBL1_8486;RH104400;SHGC-12833;SHGC-59950;SHGC-60149;SHGC-60159 A-MYB;AMYB;MGC120059;MGC120061 OTTHUMP00000226958;OTTHUMP00000226959;OTTHUMP00000228217;myb-like protein 1;myb-related protein A;v-myb myeloblastosis viral oncogene homolog-like 1 APPROVED protein-coding ENSG00000185697 HGNC:7547 159405 VALIDATED 1346231 MXRA8 matrix-remodelling associated 8 INVOLVED IN establishment of glial blood-brain barrier (ortholog); FOUND IN extracellular vesicular exosome; cell surface (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 1 1 1 p36.33 1288229 1294826 + 1288071 1297183 - 1352689 1363541 - 6480464 12477932;12975309;14603461;14702039;19056867;21555518;23000965;23386276;8125298 54587 Q9BRK3 AB052096;ABBA01016033;ABBA01016034;ABBA01016035;AK027269;AK095966;AK225028;AK293442;AK304615;AK315510;AL050202;AL139287;AMYH02000096;AY358391;BC006213;BC017312;CH471183;CS373734;DC356331;NM_001282582;NM_001282583;NM_001282584;NM_001282585;NM_032348;XM_005244758;XM_006710702 AAH06213;AAH17312;AAQ88757;BAB55010;BAD05132;BAG53178;BAG56945;BAG65397;CAL33853;EAW56220;EAW56221;EAW56222;EAW56223;NP_001269511;NP_001269512;NP_001269513;NP_001269514;NP_115724;Q9BRK3;XP_005244815;XP_006710765 Hs.515687 1697992 RH102525 DKFZp586E2023;MGC3047 OTTHUMP00000003098;OTTHUMP00000003099;OTTHUMP00000003100;limitrin;matrix-remodeling-associated protein 8 protein-coding ENSG00000162576 HGNC:7542 11330 VALIDATED 69133 MYBBP1A MYB binding protein (P160) 1a This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 17 17 17 p13.3 4454387 4470874 - 4442191 4458921 - 4538896 4555626 - 6480464;8554872 10607837;10644447;11230166;11779876;11790298;12171929;12429849;12477932;12777385;14676191;14702039;14744933;15302935;15489334;15635413;16210410;16413759;16565220;16603771;16964243;17081983;17196614;17255935;17314511;17353931;18029348;18059336;18660489;19276281;19321449;19471022;19596686;19928837;20020773;20085707;20177074;20211142;20360068;20810990;21139048;21145461;21182205;21252943;21297583;21386990;21471221;21531708;21693764;21832049;21890473;21906983;21907836;21963094;22147730;22174317;22339894;22505724;22586326;22645127;22686419;22751105;22939629;22952844;23056166;23125841;23129390;23209159;23388179;23583237;23602568;24134843;24175631;24250222;24375404;24457600;24639526;24654937;24816145;25027693;8302594;8889548;9447996 10514 I3L1L3;I3L2H8;I3L311;Q9BQG0 ABBA01054770;AC118754;AF147709;AK095205;AK293458;AK301622;AK303150;AK307948;AL133098;AL136595;AMYH02032822;AY093673;BC000641;BC050546;BF111023;CB243989;CH471108;DC346952;NM_001105538;NM_014520;XM_005256413;XM_006721419 AAF33021;AAH00641;AAH50546;AAM44451;ACE87675;BAG56953;BAG63107;BAG64253;CAB61409;CAB66530;EAW90435;EAW90436;EAW90437;NP_001099008;NP_055335;Q9BQG0;XP_005256470;XP_006721482 Hs.22824;Hs.701718 1645250 STS-AA009738 FLJ37886;P160;PAP2 OTTHUMP00000115937;myb binding protein 1a;myb-binding protein 1A;p53-activated protein-2 protein-coding ENSG00000132382 HGNC:7546 05349 604885 REVIEWED 1606910 MYBPHL myosin binding protein H-like This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 1 1 1 p13.3 108104352 108119032 - 109834987 109849663 - 109292365 109307432 - 6480464 12477932 343263 A2RUH7 ABBA01068377;AK129834;AL390252;AMYH02001709;BC108664;BC132900;BC132902;BC144471;CH471122;NG_032757;NM_001010985;NM_001265613;XM_006710613 A2RUH7;AAI32901;AAI32903;AAI44472;ADR83131;EAW56378;EAW56379;NP_001010985;NP_001252542;XP_006710676 Hs.443402 1853043 SHGC-75267 OTTHUMP00000013793;myosin-binding protein H-like APPROVED protein-coding ENSG00000221986 HGNC:30434 17616 REVIEWED 1349179 MYB v-myb avian myeloblastosis viral oncogene homolog This gene encodes a transcription factor that is a member of the MYB family of transcription factor genes. The protein contains three domains, an N-terminal DNA-binding domain, a central transcriptional activation domain and a C-terminal domain involved in transcriptional repression. This protein plays an essential role in the regulation of hematopoiesis and may play a role in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 6 6 6 q22-q23 136242804 136280663 + 135502453 135540311 + 135181315 135219173 + 1580863;6480464;6484113;8699517;8554872 10233885;10318867;10378697;10619021;10656693;10660576;10747903;11073948;11244510;11313925;11423988;11585920;11779867;11781241;11792321;11848471;11896618;11973331;12196545;12370369;12424255;12477932;12529244;12631292;12927788;14761981;15082531;15169551;15187020;15194430;15209511;15221349;15308626;15489334;15509555;15687240;15691758;15747776;15778089;15927960;16055500;16299810;16461764;16597594;16631597;16797705;16799563;16861354;16977606;17077080;17095623;17242210;17344210;17363689;17435759;17452517;17599807;17670747;17690249;17712044;18070937;18093978;18195038;18408764;18476782;18498763;18667440;18667698;18708755;18765672;18818396;18818702;18945670;19036881;19148297;19198610;19421138;19427836;1944282;19615744;19646965;19696200;19737967;19820697;19841262;19843942;19853236;19860791;19862010;19913121;20027603;20093773;20139978;20142358;20183929;20195357;20211142;20364308;20472475;20484083;20524209;20531406;20547751;20604807;20622260;20628086;20647765;20659323;20686118;20702610;20802522;20816195;20927387;21046410;21068433;21164292;21177182;21190594;21205891;21261996;21296997;21338522;21364958;21376705;21385855;21469677;21572406;21590770;21618541;21738478;21795403;21833088;21853052;21890473;2189102;21901247;21953443;21960247;21976542;21988832;22025269;2202948;22039304;22101269;22110127;22139419;22391450;22423221;22431717;22439866;22505352;22505724;22516378;22714709;22739149;22764095;22853316;22880131;22910413;22936743;23043469;23251661;23263863;23340802;23398943;23475628;23483952;23505388;23658056;23725736;23935942;23935956;23980173;24013223;24026423;24067373;24149102;24174222;24220303;24257756;24302647;24486218;24576033;24614105;24732452;24816145;25015289;2687764;3007038;3014652;3540945;7584027;7688794;7784067;7987850;8302584;8302594;8329139;8756344;8960373;9447996;9566892;9809063;9823328 4602 E9PIW4;E9PJ96;E9PJF1;E9PJT2;E9PKZ3;E9PLN0;E9PMQ0;E9PMZ0;E9PN43;E9PN92;E9PNH6;E9PP87;E9PPL8;E9PPR4;E9PQQ2;F8W8G5;H0YCN6;P10242;Q14025;Q708E1;Q708E3;Q708E6;Q708E9 ABBA01025842;ABBA01025843;AF104863;AJ606317;AJ606318;AJ606319;AJ606320;AJ606321;AJ606322;AJ606323;AJ606324;AJ616235;AJ616791;AJ616792;AJ616793;AJ616794;AJ616795;AJ616796;AJ616797;AJ616798;AJ616800;AJ616801;AJ616802;AJ616804;AJ616805;AL023693;AMYH02014545;AMYH02014546;AY787443;AY787444;AY787445;AY787446;AY787447;AY787448;AY787449;AY787450;AY787451;AY787452;AY787453;AY787454;AY787455;AY787456;AY787457;AY787458;AY787459;AY787460;AY787461;AY787462;AY787463;AY787464;AY787465;AY787466;AY787467;AY787468;AY787469;AY787470;AY787471;AY787472;AY787473;AY787474;AY787475;BC035996;BC064955;CH471051;D25774;FB659824;GU324928;HH970061;M13665;M13666;M15024;M95584;NG_012330;NM_001130172;NM_001130173;NM_001161656;NM_001161657;NM_001161658;NM_001161659;NM_001161660;NM_005375;U22376;X17469;X52125;X52126;XM_006715495 AAA52030;AAA52031;AAA52032;AAA72118;AAB49034;AAB49035;AAB49036;AAB49037;AAB49038;AAB49039;AAC96326;AAH64955;ADL14499;CAA35503;CAA36371;CAA36372;CAE55168;CAE55169;CAE55170;CAE55171;CAE55172;CAE55173;CAE55174;CAE55175;CAE82649;CAF04477;CAF04478;CAF04479;CAF04480;CAF04481;CAF04482;CAF04483;CAF04484;CAF04485;CAS01767;CBX51725;EAW47967;EAW47968;EAW47969;EAW47970;EAW47971;EAW47972;EAW47973;EAW47974;EAW47975;EAW47976;EAW47977;EAW47978;NP_001123644;NP_001123645;NP_001155128;NP_001155129;NP_001155130;NP_001155131;NP_001155132;NP_005366;P10242;XP_006715558 Hs.606320 1710570;1752051;1792322;1793276;1796376;2119728;2143985;2147115;2153008;5015961;5022322;5037552 D11S2560;D15S1477;D6S1431;D6S1837;D8S2279;MYB_951;PMC140821P4;PMC20354P3;RH18093;RH71005;SHGC-106007;SHGC-82387 Cmyb;c-myb;c-myb_CDS;efg OTTHUMP00000017258;OTTHUMP00000017259;OTTHUMP00000234268;OTTHUMP00000234319;OTTHUMP00000234320;OTTHUMP00000234321;OTTHUMP00000234322;OTTHUMP00000234323;OTTHUMP00000234392;OTTHUMP00000234393;OTTHUMP00000234397;OTTHUMP00000234399;OTTHUMP00000234401;OTTHUMP00000234408;OTTHUMP00000234411;OTTHUMP00000234412;OTTHUMP00000234413;OTTHUMP00000234414;OTTHUMP00000234429;OTTHUMP00000234431;OTTHUMP00000234432;c-myb protein (140 AA);c-myb10A_CDS;c-myb13A_CDS;c-myb14A_CDS;c-myb8B_CDS;proto-oncogene c-Myb;transcriptional activator Myb APPROVED protein-coding ENSG00000118513 HGNC:7545 01810 189990 REVIEWED 1323136 MYBPC2 myosin binding protein C, fast type This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012] 19 19 19 q13.33 47986406 48019748 + 50936160 50969583 + 50432903 50466326 + 1580863;6480464 12154082;12386147;12477932;17081983;17876814;18201573;18817784;19913121;20605413;20628086;20740642;8375400;8889549;9252413 4606 Q14324 AA086285;ABBA01068321;ABBA01068322;ABBA01068323;AC020909;AMYH02036352;BC130536;BC136389;CF552888;CF553029;CH471135;NG_028026;NM_004533;X73113 AAI30537;AAI36390;ADR83290;CAA51544;EAW71865;EAW71866;NP_004524;Q14324 Hs.85937 1331586 D19S246 MGC163408;MYBPC;MYBPCF C-protein, skeletal muscle fast isoform;fast MyBP-C;fast-type muscle myosin-binding-protein C;myosin-binding protein C, fast-type APPROVED protein-coding ENSG00000086967 HGNC:7550 01184 160793 REVIEWED 1351602 MYBPC1 myosin binding protein C, slow type This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 12 12 12 q23.2 101653418 101744340 + 101988709 102079658 + 101594931 101685880 + 1580863;6480464;8699517;8554872;7240710 11076863;11230166;11256614;12154082;12477932;12628722;1429890;14702039;15203218;15342556;15385448;15489336;15840729;16003462;16052631;16335786;16344560;16381901;16407297;16501887;16918501;18157088;19913121;20045868;20379614;20628086;21061152;21426302;22610851;24023788;24093860;3011605;7757816;8375400;8889549;9252413 4604 A8KAB1;B3KPP3;F8VZE0;F8VZY0;F8W1Z9;G3V1V7;G3XAI7;Q00872;Q86TA8 AA196860;ABBA01053239;AC010205;AC090671;AC117505;AK056587;AK057284;AK292976;AK295727;AK296681;AK303401;AL589595;AL596726;AL831993;AL832000;AL832332;AL832350;AL832354;AL832456;AL834249;AMYH02027071;AMYH02027072;AMYH02027073;BC015187;BC030980;BC065720;BC092418;BC117217;BC143495;BC143502;BC143503;BC143504;BP232990;BQ942432;BX499532;BX500247;BX649073;CD614901;CH471054;DA433791;F01203;NG_031912;NM_001254718;NM_001254719;NM_001254720;NM_001254721;NM_001254722;NM_001254723;NM_002465;NM_206819;NM_206820;NM_206821;X66276;X73114;XM_005268876;XM_006719405;XM_006719406;XM_006719407;XM_006719408;XM_006719409;XM_006719410;XM_006719411 AAH65720;AAH92418;AAI17218;AAI43496;AAI43503;AAI43504;AAI43505;ACE86664;ACE87348;BAF85665;BAG51755;BAG58568;BAG59277;BAH13954;CAA46987;CAA51545;CAD38625;CAD38925;CAD89907;CAD89927;CAD91144;CAD91150;CAD91153;CAH56129;CAL37612;EAW97663;EAW97664;EAW97665;EAW97666;EAW97667;EAW97668;EAW97669;EAW97670;EAW97671;EAW97672;NP_001241647;NP_001241648;NP_001241649;NP_001241650;NP_001241651;NP_001241652;NP_002456;NP_996555;NP_996556;NP_996557;Q00872;XP_005268933;XP_006719468;XP_006719469;XP_006719470;XP_006719471;XP_006719472;XP_006719473;XP_006719474 Hs.654589 1672889;1683054;1721139;1736202;1736232;1746273;1768605;1858335;5022606;5091750;5106346;5109721 A004I28;D12S1149E;D12S1151E;D12S1162E;D12S1171E;D12S1963;G35330;G59404;G64621;RH65715;RH91854;STS-X66276 LCCS4;MYBPCC;MYBPCS;slow-type C-protein, skeletal muscle slow isoform;OTTHUMP00000243375;OTTHUMP00000243376;OTTHUMP00000243377;OTTHUMP00000243378;OTTHUMP00000243379;OTTHUMP00000243380;OTTHUMP00000243381;OTTHUMP00000243382;OTTHUMP00000243383;OTTHUMP00000243384;OTTHUMP00000243385;OTTHUMP00000243386;OTTHUMP00000243635;myosin-binding protein C, slow-type;skeletal muscle C-protein;slow MyBP-C APPROVED protein-coding ENSG00000196091 HGNC:7549 01185 160794;614335;614915 REVIEWED 6481169 MYCBP2-AS1 MYCBP2 antisense RNA 1 13 13 77649649 77661911 + 77075514 77087776 + 11329013 100874212 ABBA01021660;AC001226;AL359257;AMYH02028312;BG208820;HG505742;HG505744;NR_046716 Hs.569288 RP11-226E21.3 APPROVED ncrna ENSG00000236051 HGNC:41023 PREDICTED 734272 MYBPH myosin binding protein H ENCODES a protein that exhibits structural constituent of muscle (inferred); INVOLVED IN cell adhesion (inferred); regulation of striated muscle contraction (inferred); FOUND IN myosin filament (inferred); INTERACTS WITH all-trans-retinoic acid; cadmium atom; carmustine 1 1 1 q32.1 176266180 176274183 - 203136939 203144969 - 203167811 203175840 - 1580863;6480464 10024460;12154082;12477932;15489334;19322201;19536175;21890473;22085929;23068101;23824909;24184715;8486381 4608 Q13203 ABBA01027484;AC105940;AMYH02002511;BC044226;CH471067;L05606;L05607;NM_004997;U27266;XM_005245196;XM_005245197 AAA02904;AAA36339;AAB86737;AAH44226;EAW91466;NP_004988;Q13203;XP_005245253;XP_005245254 Hs.927 1682698;1787630;2124312;2140719 RH93718;SHGC-155998;SHGC-76152;STS-AA025771 myBP-H H-protein;OTTHUMP00000039086;myosin-binding protein H;norvegicus myosin binding protein h protein-coding ENSG00000133055 HGNC:7552 01186 160795 VALIDATED 1315945 MYCBP MYC binding protein The protein encoded by this gene binds to the N-terminus of the oncogenic protein C-MYC, enhancing the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatogenesis. This gene can be silenced by microRNA-22. Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene. [provided by RefSeq, Nov 2011] 1 1 1 p33-p32.2 37607265 37617685 - 39328162 39339050 - 38862490 38873378 - 1580863;6480464;6484113;8554872 11483602;12151104;12223483;12414807;12477932;12522145;12665801;15489334;15979100;16169070;16866877;17595061;18029348;18271526;19167051;19615732;20360068;20379614;20500816;20544396;20562918;20639590;21139048;21890473;21906983;22050566;22863883;22939629;23000965;23398456;23402259;23444366;24250222;24816145;8889548;9797456 26292 Q6IB68;Q99417 AB007191;AB451287;AB451419;ABBA01023239;AK311886;AL139260;AMYH02000820;AMYH02000821;BC008686;BE502732;BQ437941;BT007109;BU601195;CH471059;CN478752;CR456936;D50692;NM_012333;NR_037632 AAH08686;AAP35773;ABM82417;ABM84624;ABM85616;BAA09338;BAA22408;BAG34827;BAG70101;BAG70233;CAG33217;EAX07290;EAX07291;EAX07292;NP_036465;Q99417 Hs.591506 1679694;1680062;1684628;1795918 GJA10_965;RH65637;RH68279;RH69866 AMY-1;FLJ41056 C-Myc-binding protein;OTTHUMP00000000543;associate of Myc 1;associate of myc-1;c-myc binding protein APPROVED protein-coding HGNC:7554 08406 606535 REVIEWED 6481166 MYCBP2-AS2 MYCBP2 antisense RNA 2 100874213 AL359257 APPROVED ncrna HGNC:41024 1314284 MYBPC3 myosin binding protein C, cardiac MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 47492237 47513531 - 47352957 47374253 - 47331406 47352702 - 1580232;1580233;1580234;1580235;1580236;1580237;1580238;1580239;1580863;6480464;6907045;7240710;8554872;8699517 12110947;12202917;15519027;15737656;16004897;16651346;9048664;9562578 10024460;10347086;10424815;10521296;10672519;10736283;11499718;11499719;11815426;11955864;12358155;12379228;12386147;12477932;12628722;12707239;12721663;12787675;12818575;12951062;12974739;14563344;14968112;15000344;15114369;15166115;15213454;15563892;15582318;15601779;15671604;15769446;16052631;16087648;16199542;16344560;16566405;16754800;17192269;17560599;17937428;18157088;18201573;18273486;18337725;18374358;18383048;18403758;18467358;18513529;18560154;18573260;18802026;18803133;18929575;18957093;19035361;19149795;19150014;19151713;19273718;19293840;19356534;19403693;19406073;19574547;19666196;19666645;19808356;19850579;19853701;19875404;19913121;20019025;20021930;20031618;20128375;20151718;20193176;20201939;20215591;20301486;20301725;20350521;20359594;20378854;20379391;20379614;20414521;20433692;20474083;20542340;20624503;20628086;20689143;20740642;20800588;20850451;20975235;21088121;21145461;21165360;21257752;21297165;21409595;21551322;21821050;21822214;21915287;21959974;21971072;21985754;22021246;22041450;22057632;22267749;22296197;22314326;22415774;22462493;22529996;22801425;22907696;23140321;23277198;23527136;23619294;23711808;23782526;23788249;23816408;23840593;23870641;23980194;24083979;24240729;24327208;24337456;24357727;24509847;24736382;352343;6448079;7493025;7493026;7744002;8358441;8631348;8791411;9218526;9541104;9541115;9614495;9742053 4607 A5YM48;A8MXZ9;F5GZR4;Q14896 ABBA01060720;AC090582;AJ708511;AJ708699;AK291569;AK297843;AL691822;AMYH02024728;AU140784;AY518390;BC136543;BC136546;BC142685;BC151211;CH471064;DA563514;EF560722;EU747718;EU747719;GU324918;NG_007667;NM_000256;S80778;S80782;U91629;X84075;XM_006718238;Y10129 AAB35662;AAB35663;AAC04620;AAI36544;AAI36547;AAI42686;AAI51212;AAR89909;ABQ59032;ACH92816;ACH92817;ADL14489;BAF84258;BAG60177;CAA58882;CAA71216;EAW67927;EAW67928;EAW67929;NP_000247;Q14896;XP_006718301 Hs.524906 1659339;1792998 MYBPC3;PMC181559P1 CMD1MM;CMH4;DKFZp779E1762;FHC;LVNC10;MYBP-C C-protein, cardiac muscle isoform;OTTHUMP00000234664;OTTHUMP00000236484;cardiac MyBP-C;myosin-binding protein C, cardiac;myosin-binding protein C, cardiac-type APPROVED protein-coding ENSG00000134571 HGNC:7551 02980 115197;115200;600958;615396 REVIEWED 1323830 MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase ENCODES a protein that exhibits ligase activity (inferred); protein homodimerization activity (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN branchiomotor neuron axon guidance (inferred); central nervous system projection neuron axonogenesis (inferred); negative regulation of protein catabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; arsenous acid 13 13 13 q22 58516778 58799215 - 77618792 77901177 - 77044657 77327042 - 1580863;6480464;8554872 10048485;11042152;12168954;12477932;14559897;14702039;15057823;15146197;15161933;15231748;15257286;15302935;15324660;15470080;15489334;15778465;15840729;16051665;16196087;17081983;17353931;19000755;19240061;19398581;19615732;19946888;20534529;21139048;21145461;21282530;21890473;21906983;22586326;22645275;23000965;23438482;23444366;23525682;23551011;23752268;24250222;24639526;24816145;24992930;9689053 23077 H7C3U4;O75592 AA236471;AB020723;ABBA01021660;ABBA01021661;AC001226;AF075587;AF083244;AK000968;AK023888;AK025250;AK025299;AK092651;AL110277;AL159154;AL159158;AL359257;AMYH02028312;AMYH02028313;AMYH02028314;AMYH02028315;BC037971;BE886946;BI859936;BX473679;BX647202;CH471093;CN395460;CN395461;KF455798;NM_015057;XM_005266299;XM_005266300;XM_006719779;XM_006719780;XM_006719781;XM_006719782;XM_006719783;XM_006719784;XM_006719785;XM_006719786;XM_006719787;XM_006719788;XM_006719789 AAC39928;AAD39842;AAH37971;BAA74939;BAA91448;CAB53712;EAW80564;EAW80565;EAW80566;EAW80567;NP_055872;O75592;XP_005266356;XP_005266357;XP_006719842;XP_006719843;XP_006719844;XP_006719845;XP_006719846;XP_006719847;XP_006719848;XP_006719849;XP_006719850;XP_006719851;XP_006719852 Hs.591221 1340581;1660095;1660890;1678169;1753783;1759275;2111654;2111694;2111700;2111730 D13S1306;D13S1580;D13S1611;D13S1614;D13S1631;RH79670;SHGC-108010;SHGC-150891;STS-Z40889;WI-21663 DKFZp686M08244;FLJ10106;FLJ13826;FLJ21597;FLJ21646;KIAA0916;PAM E3 ubiquitin-protein ligase MYCBP2;MYCBP2 {ECO:0000312|HGNC:HGNC:23386};OTTHUMP00000018523;myc-binding protein 2;pam/highwire/rpm-1 protein;probable E3 ubiquitin-protein ligase MYCBP2;protein associated with Myc APPROVED protein-coding ENSG00000005810 HGNC:23386 10104 610392 VALIDATED 1345657 MYCLK1 v-myc avian myelocytomatosis viral oncogene homolog-like 1 p15 1612604 4612 M64786 Avian myelocytomatosis viral (v-myc) oncogene homolog like 1;v-myc myelocytomatosis viral oncogene homolog (avian)-like 1;v-myc myelocytomatosis viral oncogene homolog-like 1 APPROVED protein-coding HGNC:7558 164865 1345665 MYCBPAP MYCBP associated protein INVOLVED IN spermatogenesis; synaptic transmission (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); choline (ortholog) 17 17 17 q21.33 45047042 45070225 + 48585745 48608863 + 50508384 50531502 + 1580863;6480464;8554872 11230166;12151104;12223483;12477932;17353931;18843202;20467438;22589738 84073 B4DZQ1;C9JXR6;C9JZX1;H0Y7R1;H7C0Z8;I3L2I8;K7EJ23;K7EJV4;K7EKR6;Q8TBZ2 AB083068;ABBA01041240;AC021491;AK127992;AK303041;AK314052;AL136765;AL832225;AMYH02033593;AMYH02033594;AMYH02033595;BC028393;BC036358;BG718526;CH471109;NM_032133;XM_005257725;XM_005257726;XM_006722133;XM_006722134;XM_006722135 AAH28393;BAB88692;BAG54614;BAG64163;CAB66699;CAH56203;EAW94608;EAW94609;NP_115509;Q8TBZ2;XP_005257782;XP_005257783;XP_006722196;XP_006722197;XP_006722198 Hs.398196 2114110;2191243 AB050260;MARC_16741-16742:1020435796:1 AMAM-1;AMAP-1;AMAP1;DKFZp434N1415 AMY-1-binding protein 1;AMY1-associating protein 1;MYCBP-associated protein;OTTHUMP00000211654;OTTHUMP00000211655 protein-coding ENSG00000136449 HGNC:19677 11378 609835 VALIDATED 1346068 MYCL v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; calcitriol; copper(2+) sulfate 1 1 1 p34.2 38642539 38649130 - 40361096 40367687 - 39895424 39902015 - 1580863;6480464 10229200;10597290;11473723;11602341;11802801;11836605;11955646;11956626;12034523;12169206;12439118;12477932;12507230;12707044;12883749;15014029;15075794;15269151;15489334;16710414;17145094;18566574;18645122;19020549;19536170;2006410;20095854;20874233;21676885;22490849;23349019;2548855;2827002;3054516;3322939;7479755;8978772 4610 E9PQS5;P12524 ABBA01023197;AI144219;AK296078;AK296838;AL033527;AMYH02000838;AY191718;BC011864;BC030694;BM967204;BX101968;CH471059;HC084230;JB171964;M19720;NM_001033081;NM_001033082;NM_005376;X07262;X07263 AAA59878;AAA59879;AAH11864;AAO38672;ABZ92166;ACE87032;ADZ16055;BAG58834;BAG59407;CAA30248;CAA30249;CBI12211;CCW44113;EAX07250;EAX07251;NP_001028253;NP_001028254;NP_005367;P12524 Hs.437922 1671406;1690574;1741125;1745037;2108275;2127782;2149102 AL009281;D1S3435;GDB:177902;GDB:593194;MYCL1_8487;RH68964;SHGC-74641 LMYC;MYCL1;bHLHe38 OTTHUMP00000010829;OTTHUMP00000010830;OTTHUMP00000179082;V-myc myelocytomatosis viral oncogene homolog;class E basic helix-loop-helix protein 38;l-myc-1 proto-oncogene;myc-related gene from lung cancer;protein L-Myc;protein L-Myc-1;v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived APPROVED protein-coding ENSG00000116990 HGNC:7555 01279 164850 VALIDATED 7247503 MYCLP2 MYCL pseudogene 2 X X X p11.21 62220259 62223120 + 57958358 57961271 - 57931924 57934837 - 645136 ABBA01015317;ABBA01015318;AL034396;AMYH02039542;NG_021343 pseudo HGNC:48924 INFERRED 1354494 MYCLP3 MYCL pseudogene 3 X X X q27.2 142969988 142971254 - 142682657 142683923 - 143594846 143596113 - 10100857 9964 ABBA01066401;AC239921;AL080239;AMYH02040694;NG_001222;Y16968 MYCL3 v-myc myelocytomatosis viral oncogene homolog 3 pseudogene (avian) APPROVED pseudo HGNC:7557 INFERRED 1352448 MYCNOS MYCN opposite strand This gene is located on the opposite strand of v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog (GeneID 4613). Transcription of this antisense gene may influence the progression of neuroblastoma by inhibiting transcription of v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog. This gene is represented as non-coding pending further experimental evidence of a protein product. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2014] 2 2 2 p24.1 15997718 15999543 - 16076387 16081845 - 15936265 15941723 - 1580863;6480464 12477932;12880964;1419902;19615087;24391509 10408 P40205 ABBA01015686;AC010145;AMYH02003317;BC002892;HG493685;HG493686;KF456635;NG_007457;NR_026766;NR_110230;S49953 AAB24206;AAY14951;P40205 Hs.651453 2128111;2190765;5022651 D11S2921;MYCN;RH17899 MYCN-AS1;N-CYM;NCYM;NYCM APPROVED ncrna ENSG00000233718 HGNC:16911 605374 VALIDATED 9068848 MYCNUT MYCN upstream transcript (non-protein coding) p24.3 24906397;8889549 103752554 AC010145;NR_125783;W87755 Hs.269571 MYCNUN;lncUSMycN ncrna HGNC:32684 615968 VALIDATED 1350092 MYCP v-myc myelocytomatosis viral oncogene homolog pseudogene (avian) 4614 HGNC:7560 1322941 MYCT1 myc target 1 FOUND IN nucleus (inferred); INTERACTS WITH lithium chloride; trichostatin A; valproic acid 6 6 6 q25.2 153752735 153779422 + 153019030 153045717 + 152697895 152724582 + 737633;6480464 12477932 12673574;14562369;14702039;16344560;21799513;21998677;22672838;8889549 80177 E9PQ55;H0YDV5;Q8N699 AA152372;ABBA01025616;AF527367;AK021612;AK024922;AL390960;AL834500;AMYH02014742;AMYH02014743;AMYH02014744;AMYH02014745;BC022556;BC128463;BC128464;CH471051;DA863771;GU997693;NM_025107 AAH22556;AAI28464;AAI28465;AAM88866;ADG03644;BAB15035;CAD39158;EAW47726;NP_079383;Q8N699 Hs.18160 1664734;1680036;1739827;1855300;2124706 D6S1536E;RH45552;RH69853;RH92601;STS-AA004369 FLJ21269;MGC156309;MGC156310;MTLC OTTHUMP00000017449;myc target in myeloid cells 1;myc target in myeloid cells protein 1;myc target protein 1 protein-coding ENSG00000120279 HGNC:23172 17617 VALIDATED 1343480 MYCLP1 MYCL pseudogene 1 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; bisphenol A X X X q22.3 106987052 106991146 + 106515694 106519789 + 107272464 107276559 + 1580863;6480464 10100857;10229200;1711681;2541066;2827002;3054516;7479755 4611 P12525 ABBA01035878;ABBA01035879;AC004081;AMYH02040212;CH471120;J03069;NG_009866 AAA59883;AAB97938;EAX02715 1690574;1702766 GDB:192508;RH68964 MYCL1P1;MYCL2;bHLHe38 APPROVED pseudo HGNC:7556 02403 310310 INFERRED 1344425 MYEOV myeloma overexpressed ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; copper(2+) sulfate; diazinon 11 11 11 q13 66404620 66407752 + 69061613 69064754 + 69294155 69297287 + 6480464;8554872 10753852;12202983;12477932;15489334;16275643;16341674;16552434;16678123;17390055;20453838;20569498;20854874;21624008;21906983 26579 F5H0B3;Q96EZ4 ABBA01013429;AJ223366;AK026148;AK290121;AMYH02025033;AP005379;BC011815;BM785815;BM809741;BM837864;CB147813;CH471076;DA377031;DA902417;NM_001293291;NM_001293294;NM_001293296;NM_001300923;NM_001300924;NM_138768;XM_005273908;XM_006718499 AAH11815;BAF82810;CAB65726;CAB65727;EAW74740;EAW74741;NP_001280220;NP_001280223;NP_001280225;NP_001287852;NP_001287853;NP_620123;Q96EZ4;XP_005273965;XP_006718562 Hs.523848 1690434;2110587 MYEOV_9496;RH94186 OCIM OTTHUMP00000237027;OTTHUMP00000237028;hypothetical protein LOC26579;myeloma overexpressed (in a subset of t(11,14) positive multiple myelomas);myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas);myeloma overexpressed gene (in a subset of t(11,14) positive multiple myelomas);myeloma overexpressed gene (in a subset of t(11;14) positive multiple myelomas);myeloma-overexpressed gene protein;oncogene in multiple myeloma APPROVED protein-coding ENSG00000172927 HGNC:7563 16130 605625 VALIDATED 1601821 MYEOV2 myeloma overexpressed 2 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q37.3 234739018 234748802 - 241065980 241075764 - 240126563 240136347 - 6480464;8554872 12477932;15146197;19615732;21145461;22939629;23776465 150678 J3QT29;Q8WXC6 ABBA01048859;AC013469;AF453951;AF487338;AMYH02006093;BC033955;CH471063;CN304277;NM_001163424;NM_138336 AAI40453;AAL41026;AAL96264;AAY14738;EAW71178;NP_001156896;NP_612209;Q8WXC6 Hs.293884 1683807 RH92274 OTTHUMP00000164500;OTTHUMP00000201583;helicase/primase complex protein;hypothetical protein LOC150678;myeloma-overexpressed gene 2 protein protein-coding ENSG00000172428 HGNC:21314 17306 VALIDATED 1344499 MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] 2 2 2 p24.3 15998381 16004827 + 16080683 16087129 + 15940561 15947007 + 1580863;6480464;7240710;8554872;8699517 10229200;10407192;10597290;10677303;11420678;11593398;11602341;11826111;11850545;11861392;11881792;12153570;12192602;12219017;12232763;12438307;12477932;12545167;12569580;12660036;12670915;12808116;12819037;12907629;1419902;1425701;14645238;14647433;14719101;14737110;15117961;15198123;15218241;15258910;15302935;15314226;15316056;15331636;15489334;1549498;15547663;15632181;15644444;15660126;15833843;16166307;16278682;16516635;16596176;16906565;16912187;16912192;1695323;17020972;17023822;17055458;17172827;17213019;17289033;17327229;17464317;17495526;17506115;17525631;17535087;17554788;17611020;17643814;17704800;17710228;18004567;18059033;18097563;18165268;18198336;18278068;18281664;18335505;18348317;18391076;18470948;18488021;18504438;18591937;18610847;18671284;18769732;18785023;18851746;18949372;18955045;19006223;19047142;19047152;19061778;19111882;19208763;19301388;19401549;19495417;19608868;19615087;19649205;19656550;19724862;19766596;19852433;19885598;19924232;19946337;19956635;19997598;20007697;20017904;2006410;20080637;20103633;20144241;20145147;20173740;20179233;20180881;20190806;20236072;20301753;20301770;20332316;20395439;20409325;20424123;20425471;20478998;20575024;20607354;20697349;20719933;20811720;20946988;20961996;20980091;21046119;21073496;21112821;21123453;21173028;21214410;21224895;21258086;21288077;21297076;21304178;21370425;21378543;21384249;21498633;21501490;21508638;21533284;21572098;21646478;21698133;21725357;21731748;21750863;21796614;21796619;21822304;21856782;21862876;21882282;21908575;21929510;21963094;22035742;22052359;22065083;22068108;22090452;22120721;22123490;22146831;22202125;22218692;22286764;22337647;22383024;22439933;22484425;22544364;22623531;22624711;22751132;22907398;22907436;22921766;22952844;22975311;23042116;23091029;23152863;23186832;23280764;23284291;23284678;23308108;23317189;23320395;23341988;23358695;23362253;23430699;23498719;23563570;23578955;23639551;23812427;23851507;23901000;23962557;23991020;24011394;24130166;24173829;24190252;24260886;24391509;24403858;24419085;24719420;24906397;25015289;25100564;2582423;2834684;2869488;2987858;3008339;3299258;3437890;3510398;3552210;3796607;3940169;6575396;6700732;6719137;6728001;8668343;9856457 4613 P04198 ABBA01015687;AC010145;AF320053;AI962624;AJ242956;AK298225;AK299495;AMYH02003317;BC002712;BT007384;BU167361;CH471053;HC084228;JB171962;M13228;M13241;M18089;M18090;M55330;NG_007457;NM_001293228;NM_001293231;NM_001293233;NM_005378;X02363;X03293;X03294;X03295;XM_006711886;Y00664 AAA36370;AAA36371;AAA59885;AAG40001;AAH02712;AAP36048;AAY14952;BAG60495;BAG61453;CAA27037;CAA27038;CAA68677;CAA68678;CAB37871;CAB44703;CBI12210;CCW44112;EAX00885;EAX00886;EAX00887;EAX00888;NP_001280157;NP_001280160;NP_001280162;NP_005369;P04198;XP_006711949 Hs.25960 1673777;1796378;2128111;2158906;2190765;2190897;7184043 D2S2719;D2S390;MARC_10471-10472:999704936:1;MYCN;MYCN_953;RH17899;RH69067 N-myc;NMYC;ODED;bHLHe37;pp65/67 MODED;MYCNOT;N-myc proto-oncogene protein;OTTHUMP00000037565;class E basic helix-loop-helix protein 37;neuroblastoma MYC oncogene;neuroblastoma-derived v-myc avian myelocytomatosis viral related oncogene;oncogene NMYC;v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived;v-myc myelocytomatosis viral related oncogene, neuroblastoma derived APPROVED protein-coding ENSG00000134323 HGNC:7559 01278 164280;164840 REVIEWED 1353148 MYETS1 multiple myeloma tumor suppressor 1 373170 HGNC:23050 1318263 MYBL2 v-myb avian myeloblastosis viral oncogene homolog-like 2 The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 20 20 20 q13.1 39003174 39052551 + 42295659 42345136 + 43667019 43716496 + 1580863;6480464;8554872 10095772;10544265;10593981;10645009;10656684;10744766;10766737;10770937;10871850;11259168;11264176;11423988;11522824;11733503;11780052;11973331;11997503;12439743;12475768;12477932;12645566;12673206;12748276;12927788;12947099;1376749;14506250;14769798;15256398;15302935;15489334;15618219;16055500;16476973;16551698;17081983;17098733;17159899;1717494;17531812;17563750;17588787;17671431;18026132;18548008;18676680;19016757;19043454;19170196;19383908;19471022;19625176;19692168;19725879;19821490;1984793;20211142;20360068;20734103;20857481;20864510;21148321;21187425;21304178;21367750;21419759;21480327;21693764;21900206;21988832;22910183;23032261;23555285;24141769;24199710;3060855;7642110;8062924;8123011;8125298;8142646;8314782;8812502;9012818;9840932 4605 P10244 AA586734;ABBA01052626;ABBA01052627;ABBA01052628;AK223482;AK303249;AK314791;AL121886;AMYH02037118;AMYH02037119;BC007585;BC053555;BU178833;BX647151;CH471077;DC395847;NM_001278610;NM_002466;X13293;X82032 AAH07585;AAH53555;ABM84448;ABM86871;BAD97202;BAG37322;BAH13925;CAA31655;CAA57552;EAW75951;NP_001265539;NP_002457;P10244 Hs.179718 2167910;2169395 STS-X13293;WI-7535 B-MYB;BMYB;MGC15600 OTTHUMP00000031719;myb-like protein 2;myb-related protein B;v-myb myeloblastosis viral oncogene homolog-like 2 APPROVED protein-coding ENSG00000101057 HGNC:7548 03247 601415 REVIEWED 731932 MYF6 myogenic factor 6 (herculin) The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010] 12 12 12 q21 80767622 80769471 + 81101408 81103257 + 80707629 80709478 + 1600529;1580863;6480464;8699517;7240710;8554872 11053684 10757985;11368338;12105204;12477932;15489334;15923648;16344560;16614355;19453261;1945842;2311584;8889549;8978788;9234731;9242638;9418854 4618 P23409 AA176491;ABBA01053491;AC025568;AK313287;AMYH02026828;BC017834;CH471054;CR407641;CR541763;DA899591;NG_021392;NM_002469;X52011 AAH17834;ABM84174;ABM87576;BAG36095;CAA36260;CAG28569;CAG46563;EAW97367;NP_002460;P23409 Hs.35937 1668002;1744047;1777232;2154277;2191395;2219954 GDB:384934;MARC_21230-21231:1032890530:1;MYF6__6187;RH18098;RH68288;SGC35587 CNM3;MRF4;bHLHc4;myf-6 OTTHUMP00000243109;class C basic helix-loop-helix protein 4;muscle-specific regulatory factor 4;myogenic factor 6 APPROVED protein-coding ENSG00000111046 HGNC:7566 01169 159991;614408 REVIEWED 1345144 MYD88 myeloid differentiation primary response 88 This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 3 3 3 p22 38115770 38120314 + 38179969 38184513 + 38138478 38143022 + 1580863;1302746;5490218;5490215;5685014;6480464;6484113;6907045;7240710;8552819;8552884;8554872;8662876;8699517 14962484;16926427;18535784;20086235;20131263;21235323;23033384 10383454;10854325;10880445;10952994;11416133;11544529;11743586;11828002;11854210;11880380;11909531;11960013;11976320;12391239;12477932;12531807;12538665;12609980;12646618;12659850;12724322;12761501;12860405;12865424;12885415;14573621;14625308;14630816;14702039;15004556;15107846;15276183;15294994;15342556;15361868;15489334;15623538;15665823;15728506;15760459;15845500;15849357;16024789;16189514;16203735;16236719;16286016;16293622;16365431;16415872;16424162;16461741;16482509;16484229;16517734;16517750;16644730;16951688;16961462;16997282;17258210;17276401;17363736;17507369;17507480;17513785;17548806;17583698;17905570;17920759;17935950;17940625;18070982;18086890;18195069;18221795;18292575;18325643;18458086;18503546;18523439;18539711;18541719;18571728;18581201;18669862;18703508;18719610;18768833;18771998;18776126;18782768;18802114;18810425;18987746;19006693;19120481;19124728;19167362;19254290;19257978;19265123;19281832;19297619;19336475;19423540;19453261;19488045;19494325;19506249;19509286;19543401;19548630;19592493;19593445;19619129;19656901;19745833;19753301;19779605;19786094;19826413;19913121;19917706;19940113;19948740;19950169;20048342;20145198;20145615;20167866;20197549;20219467;20306472;20331378;20406964;20410269;20433840;20438785;20448286;20463618;20485341;20588308;20628086;20639876;20676093;20681284;20802145;20805788;20817868;20824098;20837465;20880684;20937539;20941850;20957750;20966070;21048031;21113489;21179087;21248248;21257927;21273385;21325272;21383499;21525878;21536801;21606507;21621419;21640812;21646294;21654189;21792053;21804016;21809339;21890473;21897371;21903422;21906983;21911421;21949112;21956671;21988832;21991928;22011580;22020631;22043923;22095710;22158417;22219328;22221660;22250084;22288587;22295065;22332739;22474023;22495176;22505724;22533866;22541070;22565171;22640364;22673208;22685567;22739766;22808296;22837180;22848400;22896623;22904187;22931316;22944768;22964479;22985132;22992740;23002119;23013250;23036196;23136947;23186691;23221546;23235763;23255009;23269203;23321251;23355535;23380077;23381138;23419703;23446312;23453969;23460645;23532735;23549880;23633945;23666053;23712403;23713977;23728346;23776175;23786414;23802631;23836557;23955458;23962979;23976989;23986494;24019529;24067789;24072850;24113472;24143223;24153350;24189845;24224040;24253023;24265315;24285099;24316379;24363429;24366360;24444466;24509637;24553177;24622324;24735611;24782504;24887488;8957090;9013863;9344657;9374458;9575168;9716450;9915784 4615 H0Y4G9;Q99836 AB446470;ABBA01024827;AK097983;AK124685;AK296570;AK296716;AK298650;AK298666;AK300051;AK300448;AK304676;AL832906;AMYH02006564;AP006309;BC013589;BP242808;BP339466;BT007376;BX537602;CH471055;DC350705;NG_016964;NM_001172566;NM_001172567;NM_001172568;NM_001172569;NM_002468;U70451;U84408;XM_005265172;XM_006713170 AAB49967;AAC50954;AAH13589;AAP36040;ACE86707;ACE87392;BAG55247;BAG59190;BAG59306;BAG60822;BAG60834;BAG61860;BAG62170;BAG65448;EAW64520;EAW64521;NP_001166037;NP_001166038;NP_001166039;NP_001166040;NP_002459;Q99836;XP_005265229;XP_006713233 Hs.82116 2119050 SGC30812 MYD88D OTTHUMP00000161718;OTTHUMP00000208595;OTTHUMP00000209058;OTTHUMP00000209059;OTTHUMP00000209060;myeloid differentiation primary response gene (88);myeloid differentiation primary response protein MyD88 APPROVED protein-coding ENSG00000172936 HGNC:7562 03703 153600;602170;612260 REVIEWED 1315223 MYEF2 myelin expression factor 2 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN myotube differentiation; neuron differentiation; FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine; amiodarone 15 15 15 q21.1 25324149 25363072 - 48431629 48470714 - 48139432 48178517 - 1580863;6480464 10718198;12477932;14702039;15111488;15489334;15870273;16424906;17646162;18029348;18854154;19454010;20508642;20709755;21139048;21532573;22505724;22586326;22939629;23667531;24457600;24816145;8455629 50804 H0YKS1;H0YN19;Q9P2K5 AB037762;ABBA01039142;ABBA01039143;AC066612;AC090526;AF106685;AF190159;AK002075;AK023133;AK027316;AMYH02030388;AW023574;AW964493;BC014533;BC068523;BC131786;BC152420;BC152451;BX647197;CH471082;CN358153;DA680322;KF456039;NM_001301210;NM_016132;NR_125408;XM_005254422;XM_005254423;XM_005254424;XM_005254425;XM_005254427;XM_006720553 AAD43038;AAH14533;AAH68523;AAI52421;AAI52452;AAI67842;AAQ13703;BAA92070;BAA92579;BAB14421;EAW77337;EAW77338;EAW77339;EAW77340;EAW77341;EAW77342;NP_001288139;NP_057216;Q9P2K5;XP_005254479;XP_005254480;XP_005254481;XP_005254482;XP_005254484;XP_006720616 Hs.6638 1665883;1673810;1704788;1754565;1796380;2125790;2150842;2174057;5015861;5037552;7185938 D10S16;D8S2279;MYEF2_1816;RH45837;RH68492;SHGC-132846;SHGC-53423;SHGC-79861;STS-N31726;WI-22694 FLJ11213;HsT18564;KIAA1341;MEF-2;MGC87325;MST156;MSTP156;myEF-2 myelin gene expression factor 2 protein-coding HGNC:17940 14794 VALIDATED 1318025 MYF5 myogenic factor 5 ENCODES a protein that exhibits E-box binding (ortholog); protein heterodimerization activity (ortholog); INVOLVED IN muscle cell fate commitment (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleoplasm (inferred); INTERACTS WITH amiloride; cadmium atom; valproic acid 12 12 12 q21 80776922 80779661 + 81110708 81113447 + 80716929 80719668 + 1580863;6480464;8554872 10757985;10930450;12105204;12204280;12477932;15342556;15923648;16614355;19192046;19453261;19829708;21810080;2311584;2385294;2721498;8797820;8978788;9242638;9418854;9461343 4617 P13349;Q5U0P5 ABBA01053491;AC025568;AMYH02026828;BC069373;BP231293;BT019399;BX089431;CH471054;CS018099;CS025614;NM_005593;U27313;X14894 AAA69824;AAH69373;AAV38206;CAA33025;CAI58664;CAI61684;EAW97368;NP_005584;P13349 Hs.178023 1744051;1751079;1769314;2182127;5491211;5492053 GDB:384940;MYF5HAEIII;Myf5;SHGC-104971;SHGC-12688;WI-16580 bHLHc2;myf-5 OTTHUMP00000243110;class C basic helix-loop-helix protein 2 protein-coding ENSG00000111049 HGNC:7565 01168 159990 VALIDATED 1350148 MYH1 myosin, heavy chain 1, skeletal muscle, adult Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 10426467 10452723 - 10395624 10421859 - 10492307 10518542 - 1580863;6480464;6907045;8554872 10077619;10388558;10909963;11018701;11971910;12477932;1465443;15034862;15121898;15489334;15932553;16196087;16292541;16344560;16492921;16929514;17196619;17252231;17368238;17524638;17620599;17674103;17853024;17916367;17949294;18029348;18310078;18495334;18848840;19169759;19536092;19888426;19913121;19932167;20357587;20628086;21470888;22337492;22489880;23569248;2421254;24550385;6304733;7545970 4619 P12882 ABBA01054977;AC005323;AF111785;AJ573764;AK310004;AMYH02032966;AMYH02032967;BC022376;BC114545;CH471108;CS025608;DA826478;EU794637;NM_005963;X03740 AAD29951;AAH22376;AAI14546;ACJ13691;CAA27380;CAI61681;EAW90005;NP_005954;P12882 Hs.689619 1667201;1716641;1723877;1736660;5024075;5109793 D17S1493E;D17S1497E;RH118675;RH121577;RH36158;RH65760 HEL71;MGC133384;MYHSA1;MYHa;MyHC-2X/D;MyHC-2x OTTHUMP00000160893;epididymis luminal protein 71;myHC-IIx/d;myosin heavy chain 1;myosin heavy chain 2x;myosin heavy chain IIx/d;myosin heavy chain, skeletal muscle, adult 1;myosin, heavy polypeptide 1, skeletal muscle, adult;myosin-1 APPROVED protein-coding ENSG00000109061 HGNC:7567 08872 160730 REVIEWED 737050 MYH13 myosin, heavy chain 13, skeletal muscle ENCODES a protein that exhibits actin binding (inferred); ATP binding (inferred); calmodulin binding (inferred); INVOLVED IN cellular response to starvation (inferred); metabolic process (inferred); muscle contraction (inferred); PARTICIPATES IN myocarditis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH phenobarbital; (R)-noradrenaline (ortholog); (S)-amphetamine (ortholog) 17 17 17 p13 10235039 10307189 - 10201401 10276322 - 10300866 10373005 - 69899;1580863;6480464;6907045;8554872 9806854 10077619;10388558;12110653;15231747;18830724;19056867;19240061;20379614;20618440;21426302;8424456 8735 B4DFX9;Q9UKX3 ABBA01054975;ABBA01054976;AC005291;AF075248;AF111782;AK294316;AMYH02032964;CH471108;NM_003802 AAC83241;AAD29948;AAI56337;AAI57122;BAG57590;EAW90010;NP_003793;Q9UKX3 Hs.711142 1334584;2115267;2135171;7185474 D17S2130;D17S520;G17964 MyHC-IIL;MyHC-eo extraocular muscle myosin heavy chain;extraocular myosin heavy chain;myosin heavy chain 13;myosin heavy chain, skeletal muscle, extraocular;myosin heavy chain, skeletal muscle, laryngeal;myosin, heavy polypeptide 13, skeletal muscle;myosin-13;superfast myosin protein-coding ENSG00000006788 HGNC:7571 04599 603487 VALIDATED 1344807 MYH16 myosin, heavy chain 16 pseudogene The MYH16 gene, encoding a sarcomeric myosin heavy chain expressed in nonhuman primate masticatory muscles, is inactivated in humans. Stedman et al. (2004) [PubMed 15042088] hypothesized that the decrement in masticatory muscle size caused by the inactivation of MYH16 removed an evolutionary constraint on encephalization in early man.[supplied by OMIM, Mar 2008] 7 7 7 q22.1 93605104 93629769 + 98870924 98895595 + 99273301 99297972 + 1580863;8554872 11919279;15014174;15042088;15470226;18085818;24550385 84176 ABBA01013269;AC004834;AK025690;AMYH02016358;BK001410;CH236956;NR_002147 BAB15219 Hs.621401 1660031;1854273;2168273;2185225 D7S1463;D7S1553;GDB:1234280;RH70329 FLJ22037;MHC20;MYH16P;MYH5 myosin, heavy chain 16 APPROVED pseudo HGNC:31038 608580 PROVISIONAL 1348086 MYH15 myosin, heavy chain 15 ENCODES a protein that exhibits actin binding (inferred); ATP binding (inferred); calmodulin binding (inferred); INVOLVED IN metabolic process (inferred); PARTICIPATES IN myocarditis pathway; ASSOCIATED WITH Coronary Disease; Stroke; FOUND IN cytoplasm (inferred); myosin filament (inferred); INTERACTS WITH (R)-noradrenaline (ortholog); (S)-amphetamine (ortholog); 17alpha-ethynylestradiol (ortholog) 3 3 3 q13.13 106495842 106644781 - 108099216 108248169 - 108380369 108529322 - 1580863;2317145;2317144;6907045;6480464;8554872 18073581;19752551 10231032;11919279;14702039;15014174;15042088;17081983;17975119;19023099;19948655;21906983;22360420;22443383 22989 Q9Y2K3 AB023217;ABBA01061704;ABBA01061705;AC069499;AC135308;AK055436;AK126801;AMYH02007396;AMYH02007397;AMYH02007398;CH471052;NM_014981 AAI72390;BAA76844;BAG51517;EAW79726;NP_055796;Q9Y2K3 Hs.731060 1342207;2109539 D3S2495;MYH15_9295 OTTHUMP00000214408;myosin, heavy polypeptide 15;myosin-15 protein-coding ENSG00000144821 HGNC:31073 609929 VALIDATED 737424 MYH11 myosin, heavy chain 11, smooth muscle The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 16 16 16 p13.11 15477469 15631373 - 15796992 15950887 - 15703135 15857030 - 1580863;1580903;6480464;6907045;7240710;8554872;8699517 16444274 10048485;10493829;10850529;10906735;10998642;11439001;12239155;12477932;14627618;14702039;15585652;15968309;16000639;16289162;16502584;16504290;16767164;17081065;17287858;17361185;17571080;17666408;17956658;18391202;18796164;18798114;18941465;19011151;19328794;19380743;19596235;20132408;20301299;20473970;20508610;20618440;20936779;21205888;21698135;21853274;21890473;21906983;21937134;21963094;22001912;22178446;22266860;22505724;22511748;22939629;22968129;23000965;23152542;23160462;23314172;23788249;23874603;23891004;23966867;24002588;24332808;24639526;24816145;24921172;25027693;7684189;7916668;8219185;8276405;8424456;9628874;9715271 4629 P35749 AA552189;AB020673;ABBA01048904;ABBA01048905;ABBA01048906;ABBA01048907;ABBA01048908;AC024120;AC026401;AC130651;AC243629;AC243742;AF001548;AF013570;AF020091;AK125033;AK308389;AK311080;AY520816;AY520817;BC031040;BC080545;BC101677;BC104906;BC143364;BX489788;BX641087;CH471226;CR749516;D10667;EU489063;GU143399;GU143400;NG_009299;NM_001040113;NM_001040114;NM_002474;NM_022844;S67238;S67240;U91323;X69292 AAB28950;AAB28951;AAB69326;AAB69327;AAC31665;AAC35212;AAH31040;AAH80545;AAI01678;AAI04907;AAI43365;AAS98910;AAS98911;ACB05996;ACZ58373;ACZ58374;BAA36971;BAA74889;CAA49154;CAH18331;EAW53924;EAW53925;EAW53926;EAW53927;EAW53928;EAW53929;EAW53930;NP_001035202;NP_001035203;NP_002465;NP_074035;P35749 Hs.460109 1340337;1341391;1342381;1645056;1648440;1681243;1683841;1687335;1689137;1729055;1738693;1738771;1766923;1771851;2124759;2127238;2130067;2168765;2172043;2185376;2219980;5022578;5022588;5037552;7186378;7187884 D16S2803;D16S2853;D16S3060;D16S3127;D16S3286;D16S3302;D16S405;D1S1423;D5S1597E;D8S2279;G10522;Myh11;NDE1__6219;RH41965;RH64988;RH69889;RH79576;SHGC-1128;SHGC-152410;SHGC-3358;SHGC-5890;SHGC-60785;SHGC-61040;SHGC-6807 AAT4;DKFZp686D10126;DKFZp686D19237;FAA4;FLJ35232;MGC126726;MGC32963;SMHC;SMMHC OTTHUMP00000160389;OTTHUMP00000160390;myosin heavy chain 11;myosin heavy chain, smooth muscle isoform;myosin, heavy polypeptide 11, smooth muscle;myosin-11 APPROVED protein-coding ENSG00000133392 HGNC:7569 01174 132900;160745 REVIEWED 1348773 MYH5 myosin, heavy polypeptide 5 4623 HGNC:7575 1323747 MYH4 myosin, heavy chain 4, skeletal muscle ENCODES a protein that exhibits double-stranded RNA binding; INVOLVED IN muscle contraction; PARTICIPATES IN myocarditis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN myofibril; INTERACTS WITH (R)-noradrenaline (ortholog); (S)-amphetamine (ortholog); 17alpha-ethynylestradiol (ortholog) 17 17 17 p13.1 10377452 10403722 - 10346607 10372876 - 10443290 10469559 - 1580863;6480464;6907045;8554872 10077619;10388558;11543711;14640694;17353931;18029348;19615732;19913121;20562859;20628086;21102503;21232131;23796659;24550385;3904738;7751402;8145163;8518795;9405067 4622 Q9Y623 ABBA01054977;AC005323;AF111783;AMYH02032965;AMYH02032966;CS025606;NM_017533;XM_005256650 AAD29949;AAI56395;AAI57121;CAI61680;NP_060003;Q9Y623;XP_005256707 Hs.711141 5017681;5109793 D17S1497E;MYH3 MYH2B;MyHC-2B;MyHC-IIb OTTHUMP00000160899;myosin heavy chain 2b;myosin heavy chain 4;myosin heavy chain IIb;myosin heavy chain, skeletal muscle, fetal;myosin, heavy polypeptide 4, skeletal muscle;myosin-4 protein-coding ENSG00000264424 HGNC:7574 08873 160742 VALIDATED 731438 MYC v-myc avian myelocytomatosis viral oncogene homolog The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. It functions as a transcription factor that regulates transcription of specific target genes. Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. There is evidence to show that alternative translation initiations from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site result in the production of two isoforms with distinct N-termini. The synthesis of non-AUG initiated protein is suppressed in Burkitt's lymphomas, suggesting its importance in the normal function of this gene. [provided by RefSeq, Jul 2008] 8 8 8 q24.21 124928812 124934177 + 128748315 128753680 + 127736069 127741434 + 1580901;1601453;1580863;6480464;6484113;6907045;7207416;7207407;7207413;7240702;7207418;7240527;7240549;7240700;7240710;7207787;7207432;7240531;7241002;7207426;7207427;7207793;7240563;7240564;6483544;7240699;7207428;7207447;7207457;7207459;7207779;7207861;7240562;7240566;7240568;7241004;7241009;7207778;7207401;6903288;7240519;7240520;7240535;7240695;7240537;7207450;7240547;7207420;7207430;7207453;7207777;7207781;7207838;7207840;7240541;7240567;7240694;7207451;7207786;7207841;7207890;8554872;8699517 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25033601;25043018;25043044;25113974;2663470;2834731;3033665;3243428;3277717;3540591;3778453;6298632;6304538;6304729;6321164;6324175;6414718;6419122;6431612;6547209;6578511;6714223;7565735;7642555;7651436;7729426;7838535;7892279;7957875;8076603;8224841;8247524;8266081;8377829;8386367;8668343;8755740;9129988;9155018;9184233;9187264;9207092;9308237;9312026;9315742;9461566;9528857;9680483;9689053;9708738;9788437;9792694;9797456;9924025;9927431 4609 E5RGD7;H0YBG3;H0YBT0;P01106 AA807892;ABBA01037946;AC103819;AK303921;AK312883;AMYH02018761;AX057136;AY214166;BC000141;BC000917;BC058901;BG499628;BK006467;BT019768;CH471060;CS542411;CS566150;D10493;HC084226;HI519542;HI574342;J03253;JB171960;JB741130;K00534;K00535;K01906;K02276;KC782559;L00058;M13929;M13930;M14206;M20605;NG_007161;NM_002467;V00568;X00196;X00364;X00676;X66258 AAA36340;AAA59880;AAA59881;AAA59882;AAA59886;AAA59887;AAA88090;AAA88091;AAA88092;AAA88093;AAA88094;AAH00141;AAH00917;AAH58901;AAO21131;AAV38573;ABM85011;ABW69847;AGV06354;BAA01374;BAA01375;BAG35731;BAG64849;CAA23831;CAA25015;CAA25105;CAA25106;CAA25288;CAA46984;CAC22425;CAM91152;CAN37626;CBI12209;CBX47660;CBX54352;CCW44111;CDI30193;DAA06340;EAW92098;EAW92099;EAW92100;EAW92101;NP_002458;P01106 Hs.202453 1656708;1741167;1791073;1791328;1791378;1791834;1791836;1791838;1791882;1792014;1792324;1792406;1792410;1792654;1793070;1793328;1793870;1793920;2128591;2156325;2183889;2191627;2217654;5022714 D8S1980;G15987;GDB:178394;MARC_31575-31576:1045674460:1;MYC;MYC_3297;PMC102803P1;PMC108928P1;PMC127396P1;PMC127396P2;PMC127396P3;PMC129440P1;PMC134733P6;PMC140827P1;PMC150726P6;PMC150726P9;PMC156147P1;PMC193934P1;PMC209426P2;PMC303366P10;PMC309637P1;RH78926;UniSTS:256954;WI-19203 MRTL;MYCC;bHLHe39;c-Myc;cMyc OTTHUMP00000158589;OTTHUMP00000227763;avian myelocytomatosis viral oncogene homolog;class E basic helix-loop-helix protein 39;myc proto-oncogene protein;myc-related translation/localization regulatory factor;proto-oncogene c-Myc;transcription factor p64;v-myc myelocytomatosis viral oncogene homolog 2292709;2292922;2292939;2292941;2292951;2292960;2292989;2293005 PRSTS135_H;PRSTS136_H;PRSTS137_H;PRSTS138_H;PRSTS139_H;PRSTS140_H;PRSTS141_H;PRSTS2_H APPROVED protein-coding ENSG00000136997 HGNC:7553 01818 113970;190080;614937 REVIEWED 1353980 MYH10 myosin, heavy chain 10, non-muscle This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 17 17 17 p13 8408358 8564898 - 8377523 8534094 - 8474205 8630770 - 1580863;6480464;6907045;8554872 10906735;10958671;11029059;12477932;12605685;12704189;12724421;14594945;15231748;15496454;15619008;15628858;15774463;15845534;16257837;16344560;16394101;16596254;16611744;17020881;17023528;17081983;17202408;17353931;17361185;17620599;17727819;18182116;18460584;1860190;18697221;18843042;19156129;19237661;19380743;19553683;19596686;19615732;19738201;20379614;20473970;20564232;20660156;20677014;20682791;20811636;20860798;20936779;21106542;21139048;21145461;21203488;21319273;21697133;21737147;21792479;21853274;21890473;21906983;21963094;22049517;22266860;22505724;22586326;22623428;22677128;22939629;22952844;23000965;23084401;23128239;23398456;23732912;23862649;24072716;24088567;24250222;24332808;24337577;24457600;24639526;24816145;25015289;7499478;7542763;7699007;7782316;7916668;8424456;8663598;8931991;9405067 4628 E7ERA5;F8W6L6;G1UI33;P35580 AB210026;AB621820;ABBA01054917;ABBA01054918;ABBA01054919;AC011061;AC025518;AC026130;AF086505;AK026977;AMYH02032924;AMYH02032925;AMYH02032926;AMYH02032927;AMYH02032928;BC000280;BC008968;BC117690;BC117691;BC144668;BC150634;BE799557;BG421687;BG723653;BU173337;CA443268;CH471108;DA737414;M69181;NM_001256012;NM_001256095;NM_005964;S67247;U15618;U34304;U51039;XM_005256651;XM_005256652;XM_005256653 AAA84880;AAA87712;AAA99177;AAB28952;AAC50620;AAH00280;AAH08968;AAI17691;AAI17692;AAI44669;AAI50635;BAE06108;BAK64156;EAW90046;EAW90047;EAW90048;EAW90049;EAW90050;NP_001242941;NP_001243024;NP_005955;P35580;XP_005256708;XP_005256709;XP_005256710 Hs.16355 1340686;1661063;1661986;1688775;1762999;1773414;1797892;1848128;2119911;2122744;2123033;2168696;2184268;2191511 A004M39;D17S1384E;D17S647;MARC_24284-24285:1030045561:1;MYH10_2175;RH12513;RH12874;RH15854;RH18038;RH36627;RH93338;SHGC-12899;SHGC-146743;SHGC-32450 MGC134913;MGC134914;NMMHC II-b;NMMHC-B;NMMHC-IIB;NMMHCB OTTHUMP00000135337;OTTHUMP00000165799;cellular myosin heavy chain, type B;cellular myosin heavy chain, type B type B;myosin heavy chain 10;myosin heavy chain, non-muscle IIb;myosin heavy chain, nonmuscle type B;myosin, heavy polypeptide 10, non-muscle;myosin-10;near to the ATP binding region;non-muscle myosin heavy chain B;non-muscle myosin heavy chain IIb;nonmuscle myosin II heavy chain-B;nonmuscle myosin heavy chain IIB;nonmuscle myosin heavy chain-B APPROVED protein-coding ENSG00000133026 HGNC:7568 01178 160776 REVIEWED 737147 MYH6 myosin, heavy chain 6, cardiac muscle, alpha Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010] 14 14 14 q12 3713910 3740182 - 23849942 23878836 - 23380733 23409622 - 1580905;1580922;1580923;1580863;1600533;6480464;6907045;7240710;8554872;8699517 11815426;15735645;15998695;9410916 11512664;12477932;12933792;15621050;16088376;16344560;1776652;18029348;18029400;18429820;18511944;1930170;1975475;19801488;19913121;20035047;20062063;20215591;20301486;20301559;20301725;2062315;20628086;20639392;20656787;21378987;21436590;2144212;22194935;22627578;23183192;23583979;24224850;2494889;2726733;2969919;3037493;8307559;8424456 4624 P13533 ABBA01061320;AF056928;AK309494;AL049829;AMYH02028869;BC117511;BC132667;BX501231;CH471078;D00943;DA566231;GU324919;M21664;M25140;M25142;NG_023444;NM_002471;X56181;XM_005267694;XM_005267695;XM_006720151;XM_006720152;Z20656 AAA36344;AAA60386;AAA60387;AAC13489;AAI17512;AAI32668;ADL14490;BAA00791;CAA39642;CAA79675;EAW66154;EAW66155;NP_002462;P13533;XP_005267751;XP_005267752;XP_006720214;XP_006720215 Hs.278432 5017921;5126665 MYH6;RH71374 ASD3;CMD1EE;CMH14;MYHC;SSS3;alpha-MHC;myHC-alpha MYHCA;OTTHUMP00000164592;alpha myosin heavy chain;alpha-myosin heavy chain;cardiomyopathy, hypertrophic 1;myosin heavy chain 6;myosin heavy chain, cardiac muscle alpha isoform;myosin heavy chain, polypeptide 6;myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1);myosin-6 APPROVED protein-coding ENSG00000197616 HGNC:7576 01171 160710;613251;613252;614089;614090 REVIEWED 731491 MYH3 myosin, heavy chain 3, skeletal muscle, embryonic Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 10562704 10591469 - 10531843 10560626 - 10628526 10657309 - 1580863;6480464;6907045;7240710;8554872;8699517 15203218;15342556;16368877;16579921;16642020;1691980;18649358;18695058;19056867;19142688;19913121;20357587;20628086;21145461;21531865;21862559;22519952;23463506;24068947;2726495;2771643;2806546 4621 P11055;Q5GJ67 ABBA01054978;AC002347;AMYH02032969;AY517555;BP232093;BP232245;BP232269;BP233139;BP233220;BP370003;BQ956249;BX500019;BY796597;CD614924;CH471108;NG_011537;NM_002470;X13100;X13988;X15696;X51593;XM_006721528 AAI72385;AAT44528;CAA31492;CAA32167;CAA33731;CAA35942;EAW89999;EAW90000;NP_002461;P11055;XP_006721591 Hs.440895 2127285 RH65622 HEMHC;MYHC-EMB;MYHSE1;SMHCE OTTHUMP00000160902;muscle embryonic myosin heavy chain;myosin heavy chain 3;myosin heavy chain, fast skeletal muscle, embryonic;myosin, heavy polypeptide 3, skeletal muscle, embryonic;myosin, skeletal, heavy chain, embryonic 1;myosin-3 APPROVED protein-coding ENSG00000109063 HGNC:7573 01172 160720;193700;601680 REVIEWED 1317507 MYH7B myosin, heavy chain 7B, cardiac muscle, beta The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010] 20 20 20 q11.22 30292798 30339326 + 33543704 33590240 + 34955901 35002437 + 6480464;6907045;8554872 10819331;11329013;11780052;11919279;12477932;14702039;15014174;15489334;18634034;19913121;19948655;20035047;20154144;20224305;20520619;20628086;21139048;22216198;22266860;22703881;23455924;23800289;24250222 57644 A7E2Y1;Q5JW45;Q5JW46;Q5JW47;Q5JW48;Q5JW49 AB040945;ABBA01019172;ABBA01019173;AK000947;AL132825;AL133324;AMYH02036986;AMYH02036987;AMYH02036988;BC007808;BC069327;BC069406;BC151242;BG189104;CH471077;DB484143;KF456882;NG_016984;NM_020884;XM_006723839;XM_006723840 A7E2Y1;AAH07808;AAH69327;AAH69406;AAI51243;BAA91440;BAA96036;EAW76236;EAW76237;EAW76238;NP_065935;XP_006723902;XP_006723903 Hs.414122 1654381;1712294;5015861;5015961;5037552;7185938 D10S16;D15S1477;D8S2279;G54056;RH15946 MGC96928;MGC96940;MHC14;MYH14 OTTHUMP00000030720;U937-associated antigen;antigen MLAA-21;myosin heavy chain 7B, cardiac muscle beta isoform;myosin heavy chain-like;myosin, heavy polypeptide 7B, cardiac muscle, beta;myosin-7B;slow A MYH14 APPROVED protein-coding ENSG00000078814 HGNC:15906 11379 609928 REVIEWED 1347033 MYH2 myosin, heavy chain 2, skeletal muscle, adult Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009] 17 17 17 p13.1 10455328 10483875 - 10424465 10453017 - 10521148 10549700 - 1580863;1600532;6480464;6907045;7240710;8554872;8699517 11114175 10077619;10082674;10205275;10388558;10579056;11256614;11889243;11897493;12202484;12235157;12477932;12756252;15013951;15489334;15496418;15741996;16344560;17005402;17353931;17823310;18029348;18495866;19615732;20357587;20418530;20562859;20618440;21102503;21139048;21470888;22337492;22349865;22509030;22960022;23190566;23361003;23388406;2877813;3904738;7545970;7751403;8145163;9708547;9730972 4620 E7EX84;J3QLR0;Q9UKX2 ABBA01054977;AC005323;AF111784;AK299440;AK300702;AK308102;AMYH02032967;BC093082;BC126409;BX510904;CH471108;CS025604;DA765261;DC379233;NG_013014;NM_001100112;NM_017534;S73840;Z32858 AAC13916;AAD29950;AAH93082;AAI26410;BAG61415;BAG62382;CAA83687;CAD91136;CAI61679;EAW90003;NP_001093582;NP_060004;Q9UKX2 Hs.667534 1712997;1736652;1736660;1736668;2131797;5024075;5109793;5124396 D17S1489E;D17S1493E;D17S1497E;D17S1498E;RH120589;RH65760;RH71315;RH98750 IBM3;MYH2A;MYHSA2;MYHas8;MyHC-2A;MyHC-IIa OTTHUMP00000160894;fast 2a myosin heavy chain;inclusion body myopathy 3, autosomal dominant;myosin heavy chain 2;myosin heavy chain 2a;myosin heavy chain IIa;myosin heavy chain, skeletal muscle, adult 2;myosin, heavy polypeptide 2, skeletal muscle, adult;myosin-2;type IIA myosin heavy chain APPROVED protein-coding ENSG00000125414 HGNC:7572 01173 160740;605637 REVIEWED 8694212 MYHAS myosin heavy chain gene cluster antisense RNA 17 17 17 p13.1 10317294 10455640 + 10515219 10528857 + 10608144 10625540 + 14702039;16344560 100128560 ABBA01054977;ABBA01054978;AC002347;AC005291;AC005323;AJ571905;AK097500;AMYH02032968;AMYH02032969;BX107674;DA767101;DA825445;DB325338;HG508662;HG508664;HG508665;KC877628;NR_125367;XR_243589;XR_248323;XR_253628;XR_424794;XR_424795;XR_424796;XR_429848;XR_429849;XR_429850;XR_433344;XR_433345;XR_433346 Hs.661174;Hs.683813;Hs.709697 ncrna HGNC:50609 VALIDATED 1353391 MYHK myosin, heavy polypeptide kinase 4630 HGNC:7580 1345305 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009] 17 17 17 p13.1 10324499 10356128 - 10293642 10325267 - 10390325 10421950 - 1600548;1580863;6480464;6907045;7240710;8554872;8699517 15282353 16344560;1691980;17041932;18029348;18049072;19913121;20357587;2045411;20628086;20949528;21906983;2373371;2715179;7601129;8518795 4626 P13535 ABBA01054977;AC005291;AC005323;AF067143;AK303395;AMYH02032964;CH471108;DB142109;M36769;NG_013015;NM_002472;X51592;Z38133 AAC17185;AAC21557;AAI72386;BAG64451;CAA35941;CAA86293;EAW90008;EAW90009;NP_002463;P13535 Hs.700484 1680653;1783608;5107780 RH74898;SHGC-171513;STS-M36769 MyHC-peri;MyHC-pn;gtMHC-F OTTHUMP00000160892;fetal-myosin heavy chain;myHC-perinatal;myosin heavy chain 8;myosin heavy chain, skeletal muscle, perinatal;myosin, heavy polypeptide 8, skeletal muscle, perinatal;myosin-8 APPROVED protein-coding ENSG00000133020 HGNC:7578 11760 158300;160741;608837 REVIEWED 1315652 MYH14 myosin, heavy chain 14, non-muscle This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 19 19 19 q13.33 47757054 47864132 + 50706885 50813801 + 50203628 50310545 + 1580863;1600531;6480464;6907045;7240710;8554872;8699517 15015131 11752456;11919279;12477932;12909352;14594953;14702039;15489334;15498874;15845534;16344560;16713569;17940200;18471249;19056867;19183343;19240025;19380743;19946888;20301607;20473970;20533261;21139048;21182205;21368133;21478157;21480433;21853274;21872659;21890473;21906983;21963094;22266860;22505724;22586326;22863883;22990118;22993228;23000965;23273769;23398456;24072716;24250222;24457600;24639526;24816145;7655461;8022818;8424456 79784 A1L2Z2;B3KWH4;F2Z2U8;G8JLL9;M0QY43;Q7Z406 AB111886;AB290169;ABBA01068331;ABBA01068332;ABBA01068333;ABBA01068334;ABBA01068335;ABBA01068336;ABBA01068337;ABBA01068338;AC008655;AC010515;AC020906;AK023943;AK091982;AK122704;AK125082;AK303704;AK307783;AMYH02036342;AMYH02036343;AMYH02036344;AMYH02036345;AMYH02036346;AV661825;AY165122;AY203926;BC000676;BC004396;BC007877;BC018933;BC129803;CH471135;CR936653;DB110776;FJ041910;L29142;NG_011645;NM_001077186;NM_001145809;NM_024729;XM_006723386 AAA20905;AAH00676;AAH04396;AAH07877;AAH18933;AAI29804;AAO39147;AAP34449;ACM78630;BAB14735;BAC98374;BAG06723;BAG53677;BAG54136;BAG64689;CAI56791;EAW71838;EAW71839;EAW71840;EAW71841;EAW71842;EAW71843;NP_001070654;NP_001139281;NP_079005;Q7Z406;XP_006723449 Hs.467142 1331578;1335127;1340775;1656688;1773148;1783812;2142304 Bdya0h04;D19S866;D19S881;D19S904;G18051;G31336;SHGC-149725 DFNA4;DFNA4A;DKFZp667A1311;FLJ13881;FLJ43092;FP17425;KIAA2034;MHC16;MYH17;NMHC II-C;NMHC-II-C;PNMHH MYH14 variant protein;myosin;myosin heavy chain, non-muscle IIc;myosin, heavy polypeptide 14;myosin-14;non-muscle myosin heavy chain IIc;nonmuscle myosin heavy chain II-C APPROVED protein-coding ENSG00000105357 HGNC:23212 10543 600652;608568;614369 REVIEWED 736718 MYH7 myosin, heavy chain 7, cardiac muscle, beta Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008] 14 14 14 q12 3744643 3767558 - 23881947 23904870 - 23412738 23435661 - 1580924;1580925;1580926;1580927;1580928;1580929;1580930;1580931;1556469;1580863;6480464;6907045;7240710;8554872;8699517 11106718;12379228;12529291;15322983;15358028;15556047;15699387;15856146;15864745 10329202;10424815;10521296;10563488;10579056;10679957;10862102;10996847;11113006;11133230;11214007;11424919;11549319;11733062;11815426;11861413;11968089;12081993;12084606;12473556;12477932;12566107;12590187;12601813;12707239;12812986;12818575;12820698;12861002;12933792;12951062;12974739;1301139;1301151;1417858;1446073;14520662;14663035;15000344;15136674;15489334;1552912;15563892;15621050;1569941;15735645;15769782;15858117;15940186;16087648;16088376;16199542;16332199;16344560;1634614;1638703;16754800;1691980;17019812;17095604;17118657;17145772;17165166;17192269;17336526;17353931;17434305;17588755;17612745;17703256;1776652;17956225;18029348;18029407;18159245;18175163;18380764;18383048;18403758;18506004;18513529;18555187;18565996;18953637;19035361;19138847;19149795;19150014;19293840;19336582;19412328;19474452;19539541;19645038;19651039;19666645;1975517;19808356;19853701;19854198;19864899;19875404;19880069;19913502;20031618;20035047;20086309;20201937;20301436;20301486;20301559;20301606;20301725;20359594;20379614;20414521;2045411;20474083;20618440;20624503;20639392;20682791;20733148;20800588;20819418;20975235;21031054;21127202;21279644;21288719;21395566;21426742;21470888;21769673;21778428;21811976;21959974;2249479;2249844;22521714;22765922;22784669;22859017;22869457;23318932;23403236;2362820;23674513;23707328;23711808;23713052;23782526;23788249;23798412;23956225;24093860;2421254;24224850;24344137;24550385;24758099;24829265;2494889;2522082;2726733;2969919;3021460;3032769;3037493;7581410;7731997;7847377;7848441;7874131;7909436;8250038;8253797;8254035;8268932;8282798;8307559;8343162;8424456;8435239;8483915;8514894;8533830;8655135;9544842;9822100;9829907 4625 P12883 AB209708;ABBA01061320;AJ238393;AJ710171;AK307590;AL132855;AMYH02028869;AY518538;BC112171;BC112173;BF834726;CH471078;DA823104;DQ248310;EF179180;EF560725;EU747717;M17712;M21665;M25135;M25139;M27636;M27729;M57965;M58018;NG_007884;NM_000257;X03741;X04627;X04633;X05631;X06976;X51591;X52889;XM_005267696;XM_005267697;XR_245686 AAA36343;AAA36345;AAA51837;AAA60384;AAA60385;AAA62830;AAA79019;AAI12172;AAI12174;AAT44534;ABB55265;ABN05283;ABQ59035;ACH92815;BAD92945;CAA27381;CAA28300;CAA29119;CAA30039;CAA35940;CAA37068;CAC20413;EAW66151;EAW66152;EAW66153;NP_000248;P12883;XP_005267753;XP_005267754 Hs.719946 1338674;1340348;1741315;1742319;1742359;1743945;1852566;2161185;2176752;2190613;2191709;5016417;5024749;5120173;5491230 D14S49;D14S72;G36055;GDB:180410;GDB:196335;GDB:196475;GDB:198195;GDB:376871;MARC_1924-1925:991931692:3;MARC_5445-5446:996690391:1;MYH7;RH66825;RH93331;SHGC-6999;STS-N91549 CMD1S;CMH1;DKFZp451F047;MGC138376;MGC138378;MPD1;MYHCB;SPMD;SPMM OTTHUMP00000027949;beta-myosin heavy chain;myHC-beta;myhc-slow;myopathy, distal 1;myosin heavy chain (AA 1-96);myosin heavy chain 7;myosin heavy chain slow isoform;myosin heavy chain, cardiac muscle beta isoform;myosin heavy chain, polypeptide 7;myosin, heavy polypeptide 7, cardiac muscle, beta;myosin-7;rhabdomyosarcoma antigen MU-RMS-40.7A APPROVED protein-coding ENSG00000092054 HGNC:7577 01175 160500;160760;181430;192600;608358;613426 REVIEWED 737270 MYL2 myosin, light chain 2, regulatory, cardiac, slow Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008] 12 12 12 q24.11 110975312 110985091 - 111348623 111358404 - 110910819 110920600 - 1580240;1580241;1580863;6480464;6484113;6907045;7240710;8554872;8699517 11748309;9535554 10047984;11102452;11399775;11773029;11891719;12185584;12404107;12477932;12707239;12818575;1386340;14756420;15489334;15824735;15967462;16169070;16199542;16555005;16754800;17043135;17244674;17885681;18403758;18513529;18648664;18948272;18987303;19254691;19293840;19345098;19794400;19853701;19875404;20031618;20301725;20359594;20386496;20634891;20670370;21259275;21270382;21823217;21909109;21988832;22091967;22120626;22425609;22688514;23188716;23364009;23364394;23365102;23575436;23788249;23951055;24184274;2704627;7498159;8287067;8673105;9180271;9418861 4633 G3V1V8;P10916;Q6IB42 AA090235;ABBA01019876;AC002351;AF020768;AK312013;AMYH02027196;BC015821;BC031006;BC031008;BX538165;CH471054;CR456962;CR541957;M22815;NG_007554;NM_000432;S69022;X14332;X57542;X66141 AAA91832;AAB29658;AAB91993;AAH15821;AAH31006;AAH31008;ABM83734;ABM87054;BAG34951;CAA32510;CAA40761;CAA46931;CAG33243;CAG46755;EAW97943;EAW97944;EAW97945;NP_000423;P10916 Hs.75535 1778528;2107423;2144922;2160548 FB11E11;MYL2_7202;RH66394;WI-9038 CMH10;DKFZp779C0562;MLC-2;MLC-2v;MLC2 OTTHUMP00000241472;OTTHUMP00000241473;OTTHUMP00000241474;RLC of myosin;cardiac ventricular myosin light chain 2;myosin light chain 2;myosin regulatory light chain 2, ventricular/cardiac muscle isoform;myosin, light polypeptide 2;myosin, light polypeptide 2, regulatory, cardiac, slow;regulatory light chain of myosin;slow cardiac myosin regulatory light chain 2 APPROVED protein-coding ENSG00000111245 HGNC:7583 01181 160781;608758 REVIEWED 1606574 MYL12A myosin, light chain 12A, regulatory, non-sarcomeric ENCODES a protein that exhibits calcium ion binding (inferred); glutamate receptor binding (inferred); INVOLVED IN platelet aggregation; FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; bucladesine 18 18 18 p11.31 3127027 3135734 + 3247472 3256234 + 3247474 3256236 + 6480464 11942626;12202484;12477932;15047060;15489334;17353931;17719568;17955473;18781797;19794400;21139048;21693764;21890473;21906983;21963094;21987572;2216787;22266860;22505724;22623428;22863883;22939629;22990118;23000965;23455924;23862649;24244333;24816145;8125298 10627 J3KT92;J3KTJ1;J3QRS3;P19105 ABBA01049849;AK222569;AK291145;AMYH02034223;AP005329;BC016372;BC031972;BC032748;CH471113;D82059;DQ185044;EU794621;NM_006471;X54304;XM_005258076;XM_005258077;XM_005258078 AAH16372;AAH31972;AAH32748;ABD14424;ABM83740;ABM87059;ACJ13675;BAB88919;BAD96289;BAF83834;CAA38201;EAX01678;EAX01679;EAX01680;EAX01681;NP_006462;P19105;XP_005258133;XP_005258134;XP_005258135 Hs.190086 1744303;1773211;2181314;5115050 GDB:451607;RH48209;RH69715;SHGC-12353 HEL-S-24;MLC-2B;MLCB;MRCL3;MRLC3;MYL2B OTTHUMP00000162243;epididymis secretory protein Li 24;myosin RLC;myosin regulatory light chain 12A;myosin regulatory light chain 2, nonsarcomeric;myosin regulatory light chain 3;myosin regulatory light chain MRCL3;myosin regulatory light chain MRLC3;myosin, light polypeptide, regulatory, non-sarcomeric (20kD) protein-coding ENSG00000101608 HGNC:16701 14735 PROVISIONAL 736456 MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008] 3 3 3 p21.3-p21.2 46837863 46843479 - 46899357 46904973 - 46857867 46863483 - 1580241;1580863;6480464;6907045;7240710;8554872;8699517 11748309 12021217;12186978;12404107;12477932;12707239;14516912;1479618;15342556;15489334;16199542;16675844;16754800;17207965;17717642;18403758;18513529;19293840;19794400;19853701;19913121;20031618;20301725;20359594;20618440;20628086;21823217;21890473;21988832;22266860;22505724;23000965;23788249;2536191;2784124;2789520;3357795;3417683;3979397;7498159;8673105;9614495;9990131 4634 E9PGV7;P08590 ABBA01024712;AC109583;AF174483;AJ709328;AK312044;AMYH02006677;BC009790;BP316922;CH471055;M24122;M24247;M76408;NG_007555;NM_000258;X07373 AAA59851;AAA59894;AAA59895;AAF91089;AAH09790;ADQ33184;BAG34981;CAA30292;EAW64791;EAW64792;NP_000249;P08590 Hs.517939 1662271;1735186;1741453;2161249 D3S2827E;D3S3888;GDB:181219;RH69103 CMH8;CMLC1;MLC1SB;MLC1V;VLC1 OTTHUMP00000164785;OTTHUMP00000165922;cardiac myosin light chain 1;myosin light chain 1, slow-twitch muscle B/ventricular isoform;myosin light chain 3;myosin, light polypeptide 3, alkali;myosin, light polypeptide 3, alkali, ventricular, skeletal, slow;ventricular, skeletal, slow;ventricular/slow twitch myosin alkali light chain APPROVED protein-coding ENSG00000160808 HGNC:7584 01183 160790;608751 REVIEWED 733783 MYL1 myosin, light chain 1, alkali; skeletal, fast Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q33-q34 204922877 204947923 - 211154868 211179895 - 210290144 210315171 - 1580863;6480464 10998640;11071908;11707283;12477932;15489334;16344560;19738201;19794400;20518849;21731751;21832049;21890473;22131351;22505724;22939629;23000965;2304459;23319595;2458299;2777779;3422212;3601661;3904738;8145163 4632 P05976;Q53SD2 AA705167;ABBA01062734;ABBA01062735;AC021150;AC097525;AK311892;AK311942;AMYH02005681;AMYH02005682;BC005318;CH471063;CR456869;DA898482;J05026;J05027;M20643;NM_079420;NM_079422;X05451 AAA59855;AAA66960;AAA66968;AAH05318;AAY14720;AAY24177;BAG34833;BAG34883;CAA29020;CAG33150;EAW70483;EAW70484;EAW70485;NP_524144;NP_524146;P05976 Hs.187338 1734800;1734824;2110589;2165236;5127741 D12S2139;D2S1569E;D2S1582E;D2S2588;MYL1_7834 MLC1/MLC3;MLC1F;MLC1F/MLC3F;MLC3F A1 catalytic;A2 catalytic;OTTHUMP00000163941;OTTHUMP00000163942;myosin light chain 1/3, skeletal muscle isoform;myosin light chain A1/A2;myosin light chain alkali 1/2;myosin, light polypeptide 1, alkali;myosin, light polypeptide 1, alkali (skeletal, fast);skeletal, fast APPROVED protein-coding ENSG00000168530 HGNC:7582 01180 160780 REVIEWED 1601728 MYL12B myosin, light chain 12B, regulatory The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008] 18 18 18 p11.31 3141594 3157815 + 3262111 3278282 + 3262113 3278284 + 6480464 10593918;11942626;12477932;14627618;15146197;15188056;15616583;15946647;17620599;19165527;19328794;19471022;19615732;19794400;20473970;20618440;20876399;21139048;21145461;21319273;21853274;21890473;21906983;21963094;21987572;22136066;22166199;22374324;22505724;22623428;22808956;23000965;23398456;23443559;23862649;24816145 103910 O14950 ABBA01049849;ABBA01049850;AK291726;AMYH02034223;AP005329;AV714583;AY320408;BC004994;BG696903;BG703257;CA307094;CH471113;CN302451;D50372;D82058;NM_001144944;NM_001144945;NM_033546;U26162 AAA67367;AAH04994;AAP73808;BAA23323;BAB88918;BAF84415;EAX01675;EAX01676;EAX01677;NP_001138416;NP_001138417;NP_291024;O14950 Hs.190086;Hs.464472 1664625 A002P09 MLC-2;MLC-2A;MLC-B;MLC20;MRLC2 OTTHUMP00000162244;OTTHUMP00000165806;OTTHUMP00000165807;OTTHUMP00000165808;SHUJUN-1;myosin regulatory light chain 12B;myosin regulatory light chain 2;myosin regulatory light chain 2-B, smooth muscle isoform;myosin regulatory light chain 20 kDa;myosin regulatory light chain MRLC2 APPROVED protein-coding ENSG00000118680 HGNC:29827 10095 609211 VALIDATED 1603931 MYL10 myosin, light chain 10, regulatory ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN mitochondrion; INTERACTS WITH (+)-catechin; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 7 7 7 q22.1 96264670 96280650 - 101256605 101272576 - 101613325 101629296 - 6480464 11076863;11256614;12477932;15489336;1628631;16381901;19794400;20877624;21832049 93408 Q9BUA6 ABBA01011319;AC004953;AMYH02016413;BC002778;CH471197;NM_138403;XM_005250694 AAH02778;CAL38725;EAW50225;EAW50226;NP_612412;Q9BUA6;XP_005250751 Hs.247831 5016478 GDB:434012 MYLC2PL;PLRLC OTTHUMP00000211530;myosin light chain 2, lymphocyte-specific;myosin light chain 2, precursor lymphocyte-specific;myosin regulatory light chain 10;precursor lymphocyte-specific regulatory light chain protein-coding ENSG00000106436 HGNC:29825 17620 VALIDATED 1354290 MYL5 myosin, light chain 5, regulatory This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 3947 7178 + 669717 675822 + 674212 682028 + 1580863;6480464 10722873;12477932;1284596;14702039;19794400;20098747;20201926;21832049 4636 D6RA88;D6RB15;D6RJ91;Q02045 ABBA01019337;AC107464;AK123974;AK125529;AMYH02008558;AMYH02008559;BC040050;L03785;NM_002477;XM_005272277;XM_006713886;XM_006713887 AAA59890;AAH40050;NP_002468;Q02045;XP_005272334;XP_006713949;XP_006713950 Hs.410970 MYLC2;myLC-2 OTTHUMP00000217187;OTTHUMP00000217188;OTTHUMP00000217190;OTTHUMP00000217193;myosin light chain 5;myosin regulatory light chain 5;myosin, light polypeptide 5, regulatory;superfast myosin regulatory light chain 2 APPROVED protein-coding ENSG00000215375 HGNC:7586 01182 160782 REVIEWED 1352827 MYL6P1 myosin, light chain 6 pseudogene 1 21 21 21 q22.3 30381257 30381921 - 45275604 45276268 - 43855723 43856387 - 10830953 54043 ABBA01074144;AMYH02037900;AP001053;AP001752;NG_000917 1766499 SHGC-149820 MYL6P myosin, light polypeptide 6, pseudogene APPROVED pseudo HGNC:7588 INFERRED 1606964 MYL6B myosin, light chain 6B, alkali, smooth muscle and non-muscle Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 12 12 12 q13.13 56198479 56203915 + 56546040 56551771 + 56152420 56157987 + 6480464 10737800;12477932;14627618;15489334;15510214;18587628;19794400;20639865;21139048;21145461;21182205;21428964;21890473;21906983;21963094;21987572;22053931;22266860;22354994;22505724;22939629;23000965;2304459;23398456;23443559;24457600;2458299;24816145;2602161;8856505 140465 B4E368;F8VSA2;F8W1I5;P14649 ABBA01008406;AC034102;AI349553;AK304594;AK310996;AMYH02026562;BC012425;BC014400;BU166567;CH471054;M31211;NM_001199629;NM_002475;X16434 AAA36320;AAH12425;AAH14400;ABM82232;ABM85417;BAG65380;CAA34457;EAW96894;EAW96895;EAW96896;EAW96897;EAW96898;NP_001186558;NP_002466;P14649 Hs.632731 5114708 STS-W02718 MLC1SA OTTHUMP00000243208;OTTHUMP00000243210;OTTHUMP00000243299;myosin alkali light chain 1 slow a;myosin light chain 1 slow a;myosin light chain 1 slow-twitch muscle A isoform;myosin light chain 1, slow-twitch muscle A isoform;myosin light chain 6B;myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle;smooth muscle and non-muscle myosin alkali light chain 6B;smooth muscle and nonmuscle myosin light chain alkali 6B APPROVED protein-coding ENSG00000196465 HGNC:29823 14721 609930 REVIEWED 3254988 MYL6P3 myosin, light chain 6 pseudogene 3 10 10 10 q21.3 60198372 60283095 - 66929029 66929656 - 65169271 65169898 - 100129561 ABBA01019521;AL513321;AMYH02023217;NG_022957 pseudo HGNC:37812 INFERRED 3103162 MYL6P4 myosin, light chain 6 pseudogene 4 7 7 7 q34 136233159 136233506 + 141511710 141512057 + 141811910 141812257 + 642627 ABBA01034110;AC004979;AMYH02016923;CH236950;NG_009428 pseudo HGNC:37813 INFERRED 1350723 MYL4 myosin, light chain 4, alkali; atrial, embryonic Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 41736487 41751114 + 45266728 45301045 + 47189362 47223679 + 1580863;6480464 10373429;10494800;11076863;11557734;12477932;14985854;15174051;15489334;15489336;16106982;16381901;16675844;19738201;19794400;2027757;2129532;21988832;22108332;22623428;2308163;2458299;2849544;3417683;6879193;9000508;9180271;9738905 4635 I3L1K6;I3L1R3;I3L3U1;I3L4B1;I3L532;P12829 ABBA01041118;AC002558;AC068234;AC087649;AF116676;AMYH02033519;BC030228;BU658678;CH471231;H83803;M20641;M24121;M36172;M37074;NM_001002841;NM_002476;X13955;X52005;X58851;X58854;X58855;XM_005257391;XM_005257392 AAA36319;AAA59856;AAA59858;AAA59891;AAF71096;AAH30228;CAA32137;CAA36256;CAA41655;CAL37401;CAL37414;CAL37780;CAL38519;CAL38553;EAW57683;EAW57684;EAW57685;NP_001002841;NP_002467;P12829;XP_005257448;XP_005257449 Hs.463300 1655763;1668701;2105522;2137728;2145436;2170328;5014982 D17S2190;RH11785;RH36477;SHGC-11971;SHGC-30011;STS-X52005;stSG610846 ALC1;AMLC;GT1;PRO1957 atrial, embryonic;myosin light chain 1, embryonic muscle/atrial isoform;myosin light chain 4;myosin light chain alkali GT-1 isoform;myosin, atrial/fetal muscle, light chain;myosin, light polypeptide 4, alkali;myosin, light polypeptide 4, alkali (atrial, embryonic) APPROVED protein-coding ENSG00000198336 HGNC:7585 01176 160770 REVIEWED 3102872 MYL6P2 myosin, light chain 6 pseudogene 2 21 21 21 q22.2 26057951 26058417 + 40860254 40860720 + 39488328 39488794 + 100431168 ABBA01009337;AF121781;AMYH02037834;NG_021232 pseudo HGNC:23772 INFERRED 732401 MYH9 myosin, heavy chain 9, non-muscle This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011] 22 22 22 q13.1 20479895 20586681 - 36677323 36784107 - 36281277 36388018 - 1580863;1600553;1547864;6480464;6903274;6903241;6903242;6903238;6902925;6903237;6903243;6903256;6903258;6902926;6903254;6903235;6903239;6907045;7240710;8554872;8699517 10973259;11752022;11935325;12500226;15856021;18794854;19153477;19177153;19567477;20144966;20200500;21402784;21910715;21968013;22313957 10591208;10672519;10822899;10862698;10914687;10973260;11023810;11029059;11071640;11093280;11159552;11590545;11776386;11897493;11918549;11943476;12217806;12237319;12421915;12477932;12533692;12577067;12621333;12649151;12705885;12792306;12800156;14508515;14594945;14640694;14706930;15064761;15065866;15171681;15203218;15289939;15461802;15477207;15479433;15555549;15635413;15749830;15774463;15845534;15865432;15869600;16009940;16051665;16083285;16094384;16106752;16162639;16169070;16186248;16263121;16403913;16567366;16596254;16806139;16964243;16969126;17020881;17081983;17241369;17310241;17327270;17337617;17342744;17353931;17488351;1752022;17567956;17620012;17620599;17645784;17875677;17901043;18029348;18059020;18192507;18195072;18284620;18330899;18332220;18394644;18571626;1860190;18697221;18716610;18752571;18794856;18812466;18843042;18850735;18925516;18971378;19056867;1912569;19147824;19156129;19167051;19191864;19227191;19320731;19380743;19387472;19401332;19450438;19454010;19454694;19459928;19557653;19572073;19596686;19615732;19645626;1967836;19738201;19805454;19851296;19860543;19891592;19921264;19946888;19954613;20002731;20005488;20020773;20124285;20174760;20188514;20198315;20221761;20299374;20301607;20301740;20347641;20391533;20395239;20416459;20448150;20473970;20492585;20523037;20532800;20603234;20618440;20634883;20635188;20668430;20723023;20797700;20811636;20844233;20936779;20944748;21081666;21083612;21106542;21110983;21139048;21145461;21182205;21184743;21203488;21210153;21245129;21252943;21319273;21380797;21429915;21533124;21537348;21565611;21567368;21667320;21698141;21721535;21792479;21796764;21805244;21826056;21833445;21853274;21890473;21906983;21951916;21963094;21988832;22080149;22123909;22161839;22178446;22189356;22253476;22266860;22372535;22398565;22399300;22460785;22477015;22483112;22505724;22541678;22558294;22586326;22623428;22806255;22863883;22895805;22934964;22939629;22952844;22956460;22967416;22989438;23000965;23068101;23083320;23084401;23123319;23128239;23166591;23207509;23285077;23306907;23396488;23398456;23409987;23470845;23516419;23569248;23594493;23732912;23750785;23825951;23862649;23874603;24011553;24072716;24117195;24165359;24243973;24332808;24436421;24457600;24468067;24583282;24611568;24639526;24643058;24658608;24783421;24816145;24909917;25015289;25027693;25098841;352343;603622;6448079;7588733;7699007;8022818;8063857;8424456;9390828;9405067;9529381 4627 B1AH99;P35579;Q5BKV1 AA420536;AB191263;AB290175;ABBA01055437;ABBA01055438;ABBA01055439;AK025219;AK025393;AK131080;AK291609;AK304840;AL832639;AMYH02038316;AMYH02038317;AMYH02038318;AMYH02038319;BC011915;BC049849;BC090921;BC111387;CD614930;CH471095;CR383703;CR456526;D11393;DC296130;DQ304679;FO393418;HI574092;KF457437;KF457439;KF457440;KF511473;L29141;M31013;M69180;M81105;NG_011884;NM_002473;Z82215 AAA20904;AAA36349;AAA59888;AAA61765;AAH49849;AAH90921;AAI50170;AAI50171;ABC25483;BAA01989;BAC85130;BAD52439;BAF84298;BAG06729;BAG65583;CAD89954;CAG30412;CAK54557;CAK54856;CBX47535;EAW60096;EAW60097;EAW60098;NP_002464;P35579 Hs.474751 1336070;1339133;1339568;1340618;1644587;1657217;1694432;1731331;1796382;1857046;2129992;2135431;2178608;5117242;7185362 A008Z18;AL008664;D22S1244;D22S283;D22S284;D22S348;D22S445;D22S683;D22S693;G42919;GDB:452635;MYH9_1587;RH68678;RH78680 BDPLT6;DFNA17;EPSTS;FTNS;MGC104539;MHA;NMHC-II-A;NMMHC II-a;NMMHC-A;NMMHC-IIA;NMMHCA MYH9 variant protein;OTTHUMP00000165902;cellular myosin heavy chain, type A;myosin heavy chain 9;myosin heavy chain, non-muscle IIa;myosin, heavy polypeptide 9;myosin-9;non-muscle myosin heavy chain A;non-muscle myosin heavy chain IIa;non-muscle myosin heavy polypeptide 9;nonmuscle myosin heavy chain II-A APPROVED protein-coding ENSG00000100345 HGNC:7579 01177 153640;153650;155100;160775;600208;603622;605249 REVIEWED 1317934 MYL7 myosin, light chain 7, regulatory ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Heart Defects, Congenital; FOUND IN A band; INTERACTS WITH 5-aza-2'-deoxycytidine; calcitriol; cytarabine 7 7 7 p21-p11.2 44276421 44278875 - 44178463 44180974 - 44138864 44141317 - 1580934;1580863;6480464;8554872 12083776 12477932;12757876;12847096;1429676;15489334;15621049;15735645;18718080;19794400;8207020 58498 C9JEG4;F8WD94;H7BZE4;H7C1B1;H7C243;H7C3E3;H7C482;Q01449 ABBA01058215;AC006454;AK311869;AMYH02015616;BC027915;CH236960;CH471128;M94547;NM_021223;W17098;XM_005249816;XM_005249817 AAA59889;AAH27915;ADZ15827;BAG34810;EAW61117;NP_067046;Q01449;XP_005249873;XP_005249874 Hs.75636 5124848 RH98827 MLC-2a;MLC2a;MYL2A;MYLC2A OTTHUMP00000024743;OTTHUMP00000209242;OTTHUMP00000209244;OTTHUMP00000209245;myosin light chain 2a;myosin regulatory light chain 2, atrial isoform;myosin regulatory light chain 7;myosin, light polypeptide 7, regulatory protein-coding ENSG00000106631 HGNC:21719 10105 613993 VALIDATED 1313988 MYLIP myosin regulatory light chain interacting protein The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008] 6 6 6 p23-p22.3 17367147 17386309 + 16129277 16148479 + 16129046 16148248 + 1580863;6480464 10593918;11042152;11162443;12477932;12826659;14550572;15489334;15498874;16785530;17207965;19520913;19688294;19936222;20347265;20686565;20864672;21069265;21685362;21734303;21765216;22109552;22261164;22331829;22378787;22741812;23107276;23324548;23377640;23382078;23455924;23733886;24097068 29116 Q5TIA5;Q8WY64 ABBA01022179;ABBA01022180;AF006003;AF006004;AF187016;AF212221;AF258586;AJ420601;AK026739;AK074391;AK314648;AL021407;AMYH02013176;BC002860;BT007055;CH471087;NM_013262;XM_005249032;XM_005249033 AAF18974;AAF87323;AAG23789;AAH02860;AAP35704;AAQ13408;AAQ13409;ABW03635;ADQ31810;BAG37209;EAW55366;EAW55367;NP_037394;Q8WY64;XP_005249089;XP_005249090 Hs.484738 2147962;2180416 A004C26;WI-14205 IDOL;MIR E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor;E3 ubiquitin-protein ligase MYLIP;OTTHUMP00000018026;band 4.1 superfamily member BZF1;cellular modulator of immune recognition (c-MIR);inducible degrader of the LDL-receptor;myosin regulatory light chain-interacting protein APPROVED protein-coding ENSG00000007944 HGNC:21155 17621 610082 REVIEWED 6481411 MYLK-AS2 MYLK antisense RNA 2 q21.1 100873940 AC020634;AI148949;NR_046629 Hs.667316 APPROVED ncrna HGNC:40387 VALIDATED 5144554 MYLK-AS1 MYLK antisense RNA 1 3 3 3 q21 121711334 121756604 + 123304403 123349668 + 123610555 123612776 + 12477932 100506826 ABBA01016451;ABBA01016452;ABBA01016453;AC023165;AMYH02007555;AMYH02007556;AV744989;BC042384;DA531919;DA714112;DB499540;HG495997;HG495999;NR_038266;NR_121654;XR_241556;XR_241557;XR_249465;XR_249466;XR_251437;XR_251438;XR_425624;XR_425625;XR_425626;XR_425627;XR_425628;XR_427402;XR_427403;XR_427404;XR_427405;XR_431623;XR_431624;XR_431625;XR_431626 Hs.556600 1667587;1673124;1699598;1735100;1771665;2119363;2121090;2122277;2147888;2151433;2166249;2182440 A004V23;A006U08;D3S2779E;D3S4011;RH103400;RH16317;RH36624;RH45477;RH45994;RH77851;SGC34073;SHGC-77271 RP11-202D20.1 APPROVED ncrna ENSG00000239523 HGNC:42440 VALIDATED 1350404 MYL8P myosin, light chain 8, pseudogene 6 6 6 p21.32 34861123 34861640 + 33306755 33307272 + 33338978 33339495 + 1300397 9545376 19851445;9521053 442204 ABBA01038143;AL662820;AL662827;AMYH02013485;BX248088;CR759793;CR759817;NG_005310;Z97183 1334825 D6S1701 BING3 pseudo HGNC:7589 INFERRED 1346625 MYLKP1 myosin light chain kinase pseudogene 1 (functional) 3 3 3 p13 75315323 75325848 - 75377699 75388223 - 75328548 75339072 - 10036190;21441351 9430 ABBA01030984;AC117481;AF042089;AMYH02007085;NG_009879 MYLKP myosin, light chain kinase pseudogene APPROVED pseudo HGNC:7591 INFERRED 1604705 MYLK4 myosin light chain kinase family, member 4 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH paracetamol; ammonium chloride (ortholog); C60 fullerene (ortholog) 6 6 6 p25.2 3892821 3980110 - 2663863 2765615 - 2663629 2765381 - 6480464 12471243;12477932;14574404;14702039;20379614;21145461;22939624;24124408 340156 Q86YV6 ABBA01048628;ABBA01048629;AK090753;AK096893;AK122581;AK127360;AL138876;AL139092;AMYH02012983;AMYH02012984;AMYH02012985;BC132831;BC132833;BX647582;CH471087;NM_001012418;XM_005249077;XM_005249078;XM_005249079;XM_005249080;XM_006715081;XM_006715082;XM_006715083;XM_006715084 AAI32832;AAI32834;BAC56922;EAW55083;EAW55084;NP_001012418;Q86YV6;XP_005249134;XP_005249135;XP_005249136;XP_005249137;XP_006715144;XP_006715145;XP_006715146;XP_006715147 Hs.127830 1758373;1760065;1786060;5015961;5022200;5022578;5037552;5109281 D15S1477;D1S1423;D1S1425;D8S2279;L18426;SHGC-107581;SHGC-148182;SHGC-155644 SgK085 OTTHUMP00000015941;caMLCK like;myosin light chain kinase family member 4;sugen kinase 85 protein-coding ENSG00000145949 HGNC:27972 17355 VALIDATED 1604762 MYLK3 myosin light chain kinase 3 Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008] 16 16 16 q11.2 31244379 31290436 - 46736194 46797201 - 46702282 46763287 - 6480464;8554872 12477932;15174051;15489334;16344560;17885681;18202317;18390750;21963094;22623531;22939624;23591626;23863751;24722904 91807 Q32MK0 AB451455;ABBA01013770;AC007225;AJ247087;AK299443;AL691746;AMYH02031967;BC039103;BC109096;BC109097;CH471092;CR739116;DA561361;HG508011;NM_182493;XM_005256233;XM_005256234;XM_005256235;XM_006721333;XM_006721334 AAI09098;BAG70269;BAH13034;CAC42766;EAW82687;NP_872299;Q32MK0;XP_005256290;XP_005256291;XP_005256292;XP_006721396;XP_006721397 Hs.130465 1853249;5015404;5016596;5020948;5021396;5022450;5022576;5037552;5109663 D10S275;D16S2989;D1S1361;D7S2067E;D8S2279;G35510;GDB:313783;GDB:631802;L17705 MGC126319;MGC126320;MLCK;MLCK2;RP11-480G7.1;caMLCK MLC kinase;OTTHUMP00000163365;cardiac-MLCK;cardiac-MyBP-C associated Ca/CaM kinase;cardiac-MyBP-C-associated Ca/CaM kinase;putative myosin light chain kinase 3 APPROVED protein-coding ENSG00000140795 HGNC:29826 11281 612147 VALIDATED 1350870 MYLL1 myosin, light polypeptide, cardiac muscle-like 1 4639 HGNC:7592 1322585 MYL9 myosin, light chain 9, regulatory Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 31876955 31885284 + 35169887 35178226 + 36541484 36549823 + 1582589;1580863;6480464 16076902 11283256;11780052;11942626;12477932;14627618;14702039;16169070;18480596;19724058;19794400;20308539;20473970;20876399;21139048;21251247;21890473;21906983;21963094;22266860;22863883;23000965;23538510;24084383;24189459;24338276;24816145;2526655 10398 P24844;Q71U02 ABBA01006576;AF176042;AF176043;AK097235;AK130879;AL050318;AL697699;AMYH02037025;BC002648;BQ953325;CH471077;CR456843;D82057;J02854;NM_006097;NM_181526 AAA59852;AAH02648;AAQ13653;AAQ13654;ACE86753;ACE87441;BAB88917;CAG33124;EAW76129;EAW76130;EAW76131;EAW76132;EAW76133;EAW76134;NP_006088;NP_852667;P24844 Hs.504687 1677402;5123983 RH75828;RH91464 LC20;MGC3505;MLC-2C;MLC2;MRLC1;MYRL2 20 kDa myosin light chain;OTTHUMP00000030857;OTTHUMP00000030858;myosin RLC;myosin regulatory light chain 1;myosin regulatory light chain 2, smooth muscle isoform;myosin regulatory light chain 9;myosin regulatory light chain MRLC1;myosin regulatory light polypeptide 9;myosin, light polypeptide 9, regulatory APPROVED protein-coding ENSG00000101335 HGNC:15754 17619 609905 REVIEWED 1354007 MYMY1 moyamoya disease 1 ASSOCIATED WITH Moyamoya disease 1 (inferred) 7240710 9973290 50960 1339957 D3S3050 HGNC:16401 252350 1345006 MYMY2 moyamoya disease 2 ASSOCIATED WITH Moyamoya disease 2 (inferred) 7240710 10754001 260295 HGNC:21058 607151 1347577 MYMY3 moyamoya disease 3 ASSOCIATED WITH Moyamoya disease 3 (inferred) 7240710 15362573 493818 HGNC:20769 608796 1313756 MYL6 myosin, light chain 6, alkali, smooth muscle and non-muscle Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 56204244 56207510 + 56552045 56555366 + 56158261 56161582 + 6480464 10737800;11436981;12477932;14627618;15146197;15489334;16159877;16169070;16189514;16953301;17207965;17620599;19190083;19460752;19471022;19615732;19738201;19794400;19946888;20308691;20639865;20706999;20797700;20876399;21139048;21145461;21182205;21319273;21693764;21853274;21890473;21906983;21963094;21987572;22053931;22505724;22623428;22863883;22939629;23000965;2304459;23166591;23398456;23862649;23864651;24457600;24583282;24816145;2722814;8188229;8856505 4637 B7Z6Z4;F8VPF3;F8VXL3;F8VZU9;F8W180;F8W1R7;G3V1V0;G3V1Y7;G8JLA2;H0YI43;J3KND3;P60660;Q6IBG5 AB046613;ABBA01008406;AC034102;AC073896;AK301198;AMYH02026562;BC006781;BC017455;BC071661;BC093066;BG283793;CA427580;CH471054;CN401857;CR456839;CR457014;M22918;M22919;M22920;M31212;N84459;NG_029223;NM_021019;NM_079423;U02629 AAA20643;AAA36347;AAA36348;AAA59853;AAA59892;AAA59893;AAH06781;AAH17455;AAH71661;AAH93066;ACE86728;ACE87414;ADQ31951;ADZ15773;BAB62402;BAH13430;CAG33120;CAG33295;EAW96899;EAW96900;EAW96901;EAW96902;EAW96903;EAW96904;EAW96905;NP_066299;NP_524147;P60660 Hs.632717 1766499;2145126;2189431;5121790;5491343 D17S1993;MARC_5817-5818:991939742:3;Myln;SHGC-149820;WI-18807 ESMLC;LC17;LC17-GI;LC17-NM;LC17A;LC17B;MLC-3;MLC1SM;MLC3NM;MLC3SM 17 kDa myosin light chain;OTTHUMP00000243214;OTTHUMP00000243215;OTTHUMP00000243216;OTTHUMP00000243300;OTTHUMP00000243301;OTTHUMP00000243302;OTTHUMP00000243313;OTTHUMP00000243315;OTTHUMP00000243414;OTTHUMP00000243415;OTTHUMP00000243416;OTTHUMP00000243998;OTTHUMP00000243999;myosin light chain 3;myosin light chain A3;myosin light chain alkali 3;myosin light polypeptide 6;myosin, light polypeptide 6, alkali, smooth muscle and non-muscle;smooth muscle and non-muscle myosin alkali light chain;smooth muscle and nonmuscle myosin light chain alkali 6 APPROVED protein-coding ENSG00000092841 HGNC:7587 17618 609931 REVIEWED 1343693 MYO15A myosin XVA This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18953160 19024251 + 18012020 18083116 + 18108706 18179802 + 1580863;1600554;6480464;7240710;8547667;8554872;8699517 19804752;9603736 10552926;10915760;11583965;11735029;11997338;12114748;14702039;15590698;16169070;17546645;17853461;19056867;19274735;19309289;19807924;20301607;20642360;22245518;22736430;23251661;23865914;25036637;7704031 51168 B4DQJ3;G3V4G3;G3V4Q3;J3QS06;K7EL45;K7EMS7;K7EQV1;Q9UKN7 AB209423;ABBA01009738;AC087164;AF144094;AK055873;AK294036;AK297179;AK297641;AK298825;AK300529;AK310232;AL713794;AMYH02033109;BX538062;CH471196;KF456256;KF456257;NG_011634;NM_016239;XM_005256675 AAF05903;BAD92660;BAG57388;BAG59671;BAG60011;BAG60955;BAH13297;CAD28548;CAD97993;EAW55663;EAW55664;EAW55665;EAW55666;EAW55667;NP_057323;Q9UKN7;XP_005256732 Hs.462390 1851326;2134592;2163229;2218510;5014051;5015619;5022578;5037552 D11S3114;D1S1423;D8S2278;D8S2279;DRG2__4773;RH65958;RH78569;WI-13499 DFNB3;DKFZp686N18198;FLJ17274;FLJ31311;MYO15 OTTHUMP00000065690;myosin-XV;unconventional myosin-15;unconventional myosin-XV APPROVED protein-coding ENSG00000091536 HGNC:7594 04049 600316;602666 REVIEWED 737455 MYLK2 myosin light chain kinase 2 This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008] 20 20 20 q13.31 27163525 27178847 + 30407115 30422500 + 31819312 31834697 + 1580243;1580244;1580863;6480464;7240710;8699517;8554872 12970723;9005973 10198165;11733062;11780052;12477932;14500714;15489334;16448786;17643375;18303054;18828194;18976975;19471022;19667195;19875381;20301559;20301725;20618440;21080425;21182203;21182205;21726808;22939624;23428871;23798571;23973329;2839493;8681137;9147985 85366 Q9H1R3 ABBA01019290;AF325549;AJ272502;AL160175;AMYH02036907;BC007753;BC069627;BC092413;BC127622;BX647635;CH471077;F22840;NG_012847;NM_033118;XR_244155 AAH07753;AAH69627;AAH92413;AAI27623;AAK15494;CAC81354;EAW76414;EAW76415;EAW76416;EAW76417;NP_149109;Q9H1R3 Hs.86092 2219956;5015961;5020274;5020948;5022450;5022578;5037552 D10S275;D15S1477;D1S1423;D8S2279;G35510;L18441;MYLK2__6189 KMLC;MLCK;MLCK2;skMLCK OTTHUMP00000030560;OTTHUMP00000030561;myosin light chain kinase 2, skeletal muscle;myosin light chain kinase 2, skeletal/cardiac muscle APPROVED protein-coding ENSG00000101306 HGNC:16243 05953 192600;606566 REVIEWED 6483990 MYO16-AS1 MYO16 antisense RNA 1 13 13 q33.3 109816253 109819651 - 109163905 109167303 - 11329013 100885782 ABBA01027013;AL161431;AMYH02028695;BG181984;HG505874;KF455825;NR_047700 Hs.655942 RP11-54H7.3 APPROVED ncrna ENSG00000236242 HGNC:39913 VALIDATED 6481276 MYO16-AS2 MYO16 antisense RNA 2 q33.3 100874067 AA429676;AL353143 APPROVED ncrna HGNC:39914 1345573 MYO15B myosin XVB pseudogene ENCODES a protein that exhibits ATP binding (inferred); motor activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN cytoplasm (inferred); myosin complex (inferred); INTERACTS WITH paracetamol; choline (ortholog); folic acid (ortholog) 17 17 17 q25.1 70174236 70213014 + 73584139 73622929 + 75588058 75626849 + 1580863;6480464 10737800;11294886;11347906;11964073;12477932;14702039;16189514;18316326;23443559 80022 Q96JP2 AB058686;ABBA01028776;ABBA01028777;ABBA01028778;AC087749;AF418286;AF418287;AF418288;AF418289;AF418290;AF418291;AF418292;AF418293;AK025259;AK026339;AK074680;AK096869;AK097896;AK126458;AL713730;AMYH02034000;BC027875;BC033247;BC128044;BI011320;BK000056;CQ783956;KF511237;NR_003587 BAB15453;BAB47412;BAG10147;CAD28520;CAF86943 Hs.390817 1337159;1676834;1688080;1688082;1734470;1740005;2167578;5015619;5020740;5021228;5022200;5024756;5037552;5037554;5124601 Cda08d05;D11S3114;D15S952;D17S1433E;D8S2279;D8S2282;DXS8011;GDB:312794;L17809;L18426;RH78659;RH80030;RH91485;RH92398;RH98978 FLJ21606;FLJ22686;FLJ40577;FLJ44494;KIAA1783;MYO15BP myosin XVB;myosin xvb, pseudogene pseudo ENSG00000266714 HGNC:14083 VALIDATED 1316238 MYO10 myosin X This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011] 5 5 5 p15.1-p14.3 16686791 16961521 - 16662016 16936385 - 16661907 16936276 - 1580863;6480464;8554872 10610710;10984435;11278607;12055636;12477932;14676191;14702039;14760703;15156152;15158464;16169070;16344560;16371656;16894163;17081983;18029348;18295593;18570893;18599451;18818677;19204726;19615732;20123970;20379614;20682791;20811636;20930142;21139048;21145461;21321230;21642953;21963094;21987572;23083060;23251661;23377640;23398456;23400010;23943878;24379415;24487586;24921915;8884266;9872452 4651 D6RGD1;E9PCN3;E9PEW5;Q9HD67 AB018342;ABBA01020665;ABBA01020666;ABBA01020667;ABBA01020668;ABBA01020669;ABBA01020670;ABBA01020671;ABBA01020672;ABBA01020673;ABBA01020674;AC010310;AC010607;AC024588;AF132021;AF132022;AF184153;AF234532;AF247457;AI086647;AK001501;AK024719;AK025921;AK074717;AK125246;AK295630;AK295736;AK303459;AK316138;AL832428;AMYH02010919;AMYH02010920;AMYH02010921;AMYH02010922;AMYH02010923;AMYH02010924;AMYH02010925;AMYH02010926;AMYH02010927;BC014956;BC032669;BC041694;BC050682;BC071965;BC094838;BC108736;BC137168;BC150285;CA488271;CH471102;DA504301;KC876937;NM_012334;XM_005248306;XM_005248307;XM_006714475 AAF17363;AAF36524;AAF36525;AAF37875;AAF68025;AAH41694;AAH50682;AAH71965;AAH94838;AAI08737;AAI37169;AAI50286;BAA34519;BAC11158;BAG58507;BAG64502;BAH12170;BAH14509;CAH10611;EAX08016;EAX08017;EAX08018;NP_036466;Q9HD67;XP_005248363;XP_005248364;XP_006714538 Hs.481720 1335723;1337006;1669242;1670535;1719681;1725555;1729577;1750705;1755401;1787734;1847383;1857951;1857953;2128004;2140697;2173954;5037552;5093792;5127919;7183819 A001Y40;A009W42;D5S2114;D5S257;D5S416;D8S2279;G19798;G32927;RH11757;RH119176;RH123841;RH12416;RH12641;SHGC-112200;SHGC-142278;SHGC-152276;SHGC-173063;STS-N23153;STS-N35986 FLJ10639;FLJ21066;FLJ22268;FLJ43256;KIAA0799;MGC131988 OTTHUMP00000220773;myosin-X;unconventional myosin-10;unconventional myosin-X;unconventionnal myosin-X APPROVED protein-coding ENSG00000145555 HGNC:7593 03283 601481 REVIEWED 1349934 MYO18B myosin XVIIIB The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008] 22 22 22 q12.1 9942299 10231147 + 26138117 26453345 + 25742147 26057379 + 1580863;6480464;8554872 10591208;12209013;12477932;12547197;12741677;14702039;15305387;16499872;17081983;17294804;17474147;18029348;18519826;20379614;20713499;21139048;21294900;23423138 84700 F5GXR6;F5H6I8;H0YGQ4;Q8IUG5 AB042648;AB075376;ABBA01055182;ABBA01055183;ABBA01055184;ABBA01055185;ABBA01055186;ABBA01055187;ABBA01055188;AJ271918;AJ310931;AJ310932;AK095943;AK123936;AL022329;AL079300;AL080245;AL833890;AMYH02038159;AMYH02038160;AMYH02038161;AMYH02038162;AY077700;BC144596;BC144597;BC150626;CH471095;CR749556;KF457380;KF457381;KF457390;KF511427;NM_032608;XM_005261786;XM_005261787;XM_005261788;XM_006724340;XM_006724341;Z98949 AAI44598;AAI50627;AAL75811;BAB55550;BAC04656;BAC16363;CAC70712;CAC70714;CAC81082;CAD38746;CAH18353;EAW59702;EAW59703;EAW59704;EAW59705;EAW59706;EAW59707;EAW59708;NP_115997;Q8IUG5;XP_005261843;XP_005261844;XP_005261845;XP_006724403;XP_006724404 Hs.417959 1338756;1340964;2111284;7185225 D22S1148;D22S429;D22S538 DKFZp434C2422;DKFZp779C1668;FLJ41942 OTTHUMP00000198632;OTTHUMP00000239235;OTTHUMP00000239236;myosin 18B;myosin-XVIIIb;unconventional myosin-XVIIIb APPROVED protein-coding ENSG00000133454 HGNC:18150 09529 607295 REVIEWED 1352895 MYO19 myosin XIX ENCODES a protein that exhibits actin binding (inferred); ATP binding (inferred); motor activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH calcitriol; cobalt dichloride; coumestrol 17 17 17 q12 31673687 31713368 - 34851599 34891305 - 36495755 36535457 - 737633;1580863;6480464;8554872 12477932 17877792;18029348;19932026;21906983;21963094;22797925;23000965;8889548 80179 B4DSL5;B4E218;B7Z1T7;Q96H55 AA631248;AB209035;ABBA01012425;ABBA01012426;AC126327;AC233698;AC233700;AK026518;AK293903;AK299802;AK304073;AL133017;AY545559;BC008900;BC036325;BM661625;BM921100;BU543266;CD656712;CH471199;NM_001033580;NM_001163735;NM_025109;XM_005257696;XM_005257697;XM_006722107;XM_006722108;XM_006722109;XM_006725351;XM_006725352;XM_006725353;XM_006725354;XM_006725355 AAH08900;AAS50154;BAB15495;BAD92272;BAG61677;BAG64980;BAH11623;EAW57556;EAW57557;EAW57558;EAW57559;EAW57560;EAW57561;NP_001028752;NP_001157207;NP_079385;Q96H55;XP_005257753;XP_005257754;XP_006722170;XP_006722171;XP_006722172;XP_006725414;XP_006725415;XP_006725416;XP_006725417;XP_006725418 Hs.302051 1687638;1734524;1739647;1852981;2124875;2127978;2151181;5107980 D17S1459E;D17S1724E;RH11528;RH18449;RH67774;RH91524;SHGC-31539;WI-22201 FLJ22865;MYOHD1 myosin head domain containing 1;myosin head domain-containing protein 1;myosin-XIX;unconventional myosin-XIX protein-coding ENSG00000278259 HGNC:26234 10107 VALIDATED 1603646 MYLPF myosin light chain, phosphorylatable, fast skeletal muscle ENCODES a protein that exhibits structural constituent of muscle (ortholog); INVOLVED IN skeletal muscle tissue development (ortholog); FOUND IN lysosomal membrane; INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2-butoxyethanol (ortholog) 16 16 16 p11.2 29909334 29912521 - 30386123 30389310 + 30374802 30377989 + 6480464 12477932;14756420;15489334;17207965;17897319;19156129;20085233;24457600;6091059;6179945 29895 H3BML9;H3BN54;H3BPK4;Q96A32 ABBA01042021;AC127457;AC243825;AF363061;AK314082;BC012571;BX649054;CH471192;CR456963;M21812;NM_013292;X57543 AAA91848;AAH12571;AAK52797;ADQ32659;BAG36780;CAA40762;CAG33244;EAW52254;EAW52255;NP_037424;Q96A32 Hs.50889 1663773;1681646;1683868 G30670;RH66827;RH91354 DKFZp779C0757;HUMMLC2B;MGC13450;MLC2B;MRLC2;MYL11 OTTHUMP00000163232;fast skeletal myosin light chain 2;myosin light chain 2;myosin regulatory light chain 2, skeletal muscle isoform;myosin, light chain 11, regulatory protein-coding ENSG00000180209 HGNC:29824 13721 PROVISIONAL 1317346 MYNN myoneurin This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010] 3 3 3 q26.2 167889333 167905983 + 169490619 169507504 + 169772401 169789716 + 6480464;8554872 10873615;12477932;14694499;14702039;15489334;16344560;17409414;18029348;18316326;18676680;19170196;19322201;19625176;19692168;20190752;20386695;20936779;20972440;21145461;21833088;21906983;23001564;23535734;23955597;24163127;24292274;25011449 55892 B4E2H9;Q9NPC7;R4GMT1 AB079777;AB079778;AB079779;ABBA01058704;AC078795;AC078802;AF076249;AF148848;AF155508;AK021646;AK092022;AK304281;AK307916;AK312527;AL133070;AMYH02008100;AY286322;AY286328;AY514901;AY515691;AY515692;AY541760;AY541761;BC020610;BC033620;BX648128;CH471052;DB134736;DC362274;NM_001185118;NM_001185119;NM_018657;NR_033702;NR_033703;XM_005247621;XM_005247622;XM_005247624 AAF73138;AAF74822;AAF80160;AAH20610;AAH33620;AAP44763;AAP44764;AAR99055;AAS38566;AAS38567;AAS87376;AAS87377;ABM82522;ABM85716;BAB13862;BAC55898;BAC55899;BAC55900;BAG35426;BAG52468;BAG65141;BAI46624;CAB61393;CAI46035;EAW78544;EAW78545;EAW78546;NP_001172047;NP_001172048;NP_061127;Q9NPC7;XP_005247678;XP_005247679;XP_005247681 Hs.507025;Hs.630744 1768351;2147989;2147991;2217656;5017779 A005B19;G20242;MYNN;MYNN_2243;SHGC-77521 OSZF;SBBIZ1;ZBTB31;ZNF902 zinc finger and BTB domain-containing protein 31;zinc finger protein with BTB/POZ domain APPROVED protein-coding ENSG00000085274 HGNC:14955 06920 606042 REVIEWED 1605490 MYO18A myosin XVIIIA ENCODES a protein that exhibits actin filament binding; ADP binding; ATP binding; INVOLVED IN actomyosin structure organization; cell migration; Golgi organization; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN actomyosin; Golgi membrane; membrane; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; bisphenol A 17 17 17 q11.2 24259886 24366927 - 27400528 27507432 - 29073510 29180389 - 6480464;8554872 10733938;12477932;12761286;14676191;14702039;15302935;15489334;15491607;15835906;16083285;16087679;16713569;17081983;18029348;18443188;18854160;19006078;19837035;19923322;19946888;20379614;20936779;21139048;21145461;21751808;23345592;23398456;23990465;24485452;24816145;8663107;9039502;9918798 399687 E9PN42;H0YEV9;K7EKB3;Q92614;Q9NYE8 AB177858;AB177860;ABBA01015032;ABBA01015033;ABBA01015034;AC005412;AC024619;AF252258;AK122870;AK294180;AK302505;AK302725;AK303522;AMYH02033234;AMYH02033235;AMYH02033236;AMYH02033237;AY703984;BC039612;BM544214;CH471159;CR933614;D86970;KF456261;NM_078471;NM_203318 AAF70181;AAH39612;AAV80770;BAA13206;BAD66836;BAD66838;BAG53770;BAG57498;BAG63783;BAG63944;BAG64550;CAI45931;EAW51177;EAW51179;EAW51183;NP_510880;NP_976063;Q92614 Hs.462590 1339933;1681117;1682601;1690127;1703946;1708640;1722793;1736676;1763383;1783474;2108277;5113746;5491587 D17S1502E;D17S1873;G60338;MARC_23519-23520:1046465531:1;MYO18A__7317;RH39291;RH67783;RH68312;RH98718;SHGC-13103;SHGC-147104;SHGC-83656;SHGC-85120 DKFZp686L0243;KIAA0216;MAJN;MYSPDZ;SPR210 OTTHUMP00000232720;OTTHUMP00000232721;OTTHUMP00000232722;SP-A receptor subunit SP-R210 alphaS;molecule associated with JAK3 N-terminus;myosin 18A;myosin containing PDZ domain;myosin containing a PDZ domain;myosin-XVIIIa;unconventional myosin-XVIIIa protein-coding ENSG00000196535 HGNC:31104 10106 610067 VALIDATED 735320 MYO1B myosin IB ENCODES a protein that exhibits actin filament binding; ATP binding; microfilament motor activity; INVOLVED IN actin filament organization; metabolic process; post-Golgi vesicle-mediated transport; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN actin filament; early endosome; endosome membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 q12-q34 185704728 185884766 + 192110107 192290115 + 191245381 191425389 + 1580863;6480464;8554872 11509238;12477932;12486594;14702039;15146197;15489334;16219689;17353931;18599791;19056867;19523119;19805454;20473970;20682791;20876399;21139048;21145461;21182205;21666684;21674799;21890473;21906983;22001757;22266860;22354994;22505724;22586326;23000965;23251661;23398456;23862649;24332808;25027693;8022818;8449985;8719884 4430 B0I1S9;C9JUP5;C9JYW1;C9K0I9;E7EQD9;E9PDF6;H7C2Y7;O43795 AB290176;ABBA01062395;AC068056;AC092614;AC118061;AC133534;AI751497;AJ001381;AJ001382;AK000160;AK022489;AK074978;AMYH02005444;AMYH02005445;AMYH02005446;BC021665;BC053558;BC060849;BF061446;BG563224;BQ027157;BQ650834;CA435949;CH471058;CN295039;DB461518;L29138;NM_001130158;NM_001161819;NM_012223;XM_005246569;XM_005246572;XM_005246575;XM_005246577;XM_006712536;XM_006712537 AAA20901;AAH21665;AAH53558;ACE86771;ACE87457;BAG06730;BAG52044;CAA04712;CAA04713;EAX10839;EAX10840;EAX10841;EAX10842;EAX10843;EAX10844;EAX10845;NP_001123630;NP_001155291;NP_036355;O43795;XP_005246626;XP_005246629;XP_005246632;XP_005246634;XP_006712599;XP_006712600 Hs.439620 1644241;1654549;1718169;1718303;1750331;1848637;2141765;2172800;2184580;2219958;5093502;5123818 A009P46;G09498;G32756;MYO1B__6193;RH122853;RH122923;RH66000;RH69381;RH70476;SHGC-112645;SHGC-33894;SHGC-36003 MMI-alpha;MMIa;MYH-1c;myr1 MYO1B variant protein;OTTHUMP00000163591;OTTHUMP00000163592;OTTHUMP00000165861;OTTHUMP00000205475;myosin I alpha;myosin-I alpha;myosin-Ib;unconventional myosin-Ib protein-coding ENSG00000128641 HGNC:7596 08407 606537 VALIDATED 1604637 MYO16 myosin XVI ENCODES a protein that exhibits actin filament binding (ortholog); INVOLVED IN cerebellum development (ortholog); negative regulation of cell proliferation (ortholog); negative regulation of G1/S transition of mitotic cell cycle (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleoplasm; perinuclear region of cytoplasm; cytoplasm (ortholog); INTERACTS WITH progesterone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog) 13 13 13 q33.3 90093241 90704849 + 109248500 109860355 + 108596152 109208007 + 6480464;8554872 10048485;11588169;12421765;12477932;14702039;17029291;18029348;19913121;20201926;20379614;20628086;21946561;22763476;23064961;23251661;23509613;23535033;24023788;24141571;8889548 23026 B4DZI1;F8W883;Q9Y6X6 AB020672;AB290159;ABBA01027013;ABBA01027014;ABBA01027015;ABBA01027016;ABBA01027017;AI692718;AK095691;AK127806;AK302933;AL136132;AL157771;AL161431;AL353143;AL390918;AL512648;AL834447;AMYH02028690;AMYH02028691;AMYH02028692;AMYH02028693;AMYH02028694;AMYH02028695;BC146791;BM682627;BM723424;KF455825;NM_001198950;NM_015011 AAI46792;BAA74888;BAC04608;BAC87143;BAG06713;BAG64093;CAD39107;NP_001185879;NP_055826;Q9Y6X6 Hs.656587 1335373;1647717;1705090;1707230;1709500;1710500;1723165;1743225;1751505;1768143;1852917;2111582;2166365;2178704;2181446 D13S1205;D13S1265;D13S1533;D13S1660;G17727;G17754;GDB:305493;RH123767;RH47119;SHGC-105294;SHGC-79208;SHGC-79962;SHGC-81807;SHGC-86270;SHGC-9496 KIAA0865;MYAP3;MYR8;Myo16b;NYAP3;PPP1R107 MYO16 variant protein;OTTHUMP00000018693;OTTHUMP00000018694;OTTHUMP00000018695;myosin heavy chain Myr 8;myosin-XVI;neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 3;neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3;unconventional myosin-16;unconventional myosin-XVI protein-coding ENSG00000041515 HGNC:29822 14795 615479 VALIDATED 1349117 MYO1D myosin ID ENCODES a protein that exhibits actin binding (inferred); actin-dependent ATPase activity (inferred); ATP binding (inferred); INVOLVED IN negative regulation of phosphatase activity; early endosome to recycling endosome transport (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; endosome (ortholog); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; calcitriol 17 17 17 q11-q12 27729830 28114502 - 30819628 31203902 - 32492610 32876884 - 1580863;6480464;8554872 12477932;15489334;17353931;17376794;19056867;19165527;19380743;19389623;19913121;20473970;20628086;20686608;20876399;21139048;21145461;21674799;21890473;21906983;22322875;22586326;22990118;23000965;23396134;23398456;24250222;25027693;8884266;9872452 4642 J3KRL0;J3QRN6;J3QRR2;K7EIG7;O94832 AB018270;ABBA01000719;ABBA01000720;ABBA01000721;ABBA01000722;ABBA01000723;ABBA01000724;ABBA01000725;ABBA01000726;ABBA01000727;ABBA01000728;ABBA01000729;AC007982;AC025211;AC079336;AC084809;AK026907;AK026920;AK127942;AMYH02033319;AMYH02033320;AMYH02033321;AMYH02033322;AMYH02033323;AMYH02033324;AMYH02033325;AMYH02033326;BC030602;BC030796;BC146763;BX537615;CH471147;KF456267;NM_015194 AAH30796;AAI46764;BAA34447;CAD97800;EAW80221;EAW80222;EAW80223;EAW80224;EAW80225;NP_056009;O94832 Hs.602063 1341544;1705986;1724157;1750325;1754833;2176679 D17S1880;RH121212;RH16332;SHGC-112514;SHGC-141753;SHGC-78626 KIAA0727;PPP1R108;myr4 myosin-I gamma;myosin-Id;unconventional myosin-Id protein-coding ENSG00000176658 HGNC:7598 07581 606539 PROVISIONAL 1345169 MYO1A myosin IA This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011] 12 12 12 q13-q14 57076230 57097822 - 57422301 57444549 - 57028517 57050765 - 1580863;1600218;6480464;7240710;8554872;8699517 12736868 10653589;11474115;11916846;12477932;12596055;12812986;15489334;16936815;17981900;18599791;19615732;20301607;20379614;20473970;21145461;2161834;22307608;22367206;23002058;2606897;7584027;8022818;8692943;8884266;9858156 4640 B2R643;C9JU63;G3V342;G3V587;Q9UBC5 ABBA01008447;AC026120;AF009961;AF105424;AF127026;AK300381;AK312431;AMYH02026578;BC059387;CH471054;D25786;KF455654;L29137;NG_012104;NM_001256041;NM_005379 AAA20900;AAC27437;AAC78645;AAD31189;AAH59387;BAG35340;BAG62116;EAW96981;EAW96982;EAW96983;NP_001242970;NP_005370;Q9UBC5 Hs.5394 1689167;1746397 G64470;RH93197 BBM-I;BBMI;DFNA48;MIHC;MYHL OTTHUMP00000195072;OTTHUMP00000195074;OTTHUMP00000244867;brush border myosin I;brush border myosin-I;myosin I heavy chain;myosin, heavy polypeptide-like (100kD);myosin-Ia;unconventional myosin-Ia APPROVED protein-coding ENSG00000166866 HGNC:7595 08371 601478;607841 REVIEWED 737188 MYO1C myosin IC This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 1382666 1411498 - 1367480 1396001 - 1464186 1492707 - 1580863;6480464;8547667;7240710 19804752 11030652;12477932;15146197;15302935;15342556;15558034;16133118;16300736;16344560;16514417;16603771;16877530;16957816;16960872;17081983;17353931;17620012;17620599;18599791;18781797;19027848;19056867;19380743;19596686;19615732;19729515;19946888;20308691;20473970;20876399;21139048;21182205;21402783;21565611;21890473;21906983;21963094;21987572;22178446;22266860;22328521;22586326;22745667;22939629;22952844;23000965;23262137;23398456;23438938;23555303;23862649;24332808;24457600;24636949;24816145;25027693;8719884;8884266;9119401;9367879;9858156 4641 F5H6E2;I3L168;I3L204;I3L2C3;I3L3F5;I3L3Y6;I3L4D4;I3L501;O00159 AB210015;ABBA01054664;ABBA01054665;ABBA01054666;AC100748;AI220881;AK172742;AK292910;AK295761;AK304782;AMYH02032742;AMYH02032743;BC044891;BC068013;BC127784;BP255642;BP284965;CA422782;CD050346;CH471108;CN313279;DB241937;KF459568;KF495829;NM_001080779;NM_001080950;NM_033375;X98507;XM_005256655 AAH44891;AAH68013;AAI27785;BAE06097;BAF85599;BAH12181;BAH14256;CAA67131;EAW90619;EAW90620;NP_001074248;NP_001074419;NP_203693;O00159;XP_005256712 Hs.286226 1650449;1736690;2137516;5014053 A004Q21;D17S1510E;D1S3693;RH70953 FLJ23903;MMI-beta;MMIb;NMI;myr2 OTTHUMP00000115372;myosin I beta;myosin-I beta;myosin-Ic;nuclear myosin I;unconventional myosin-Ic APPROVED protein-coding ENSG00000197879 HGNC:7597 09411 606538;614131 REVIEWED 1314390 MYO1G myosin IG MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010] 7 7 7 p13-p11.2 45101009 45117450 - 45002260 45018704 - 44962661 44979105 - 6480464;8554872 11544309;12202484;12477932;12690205;12853948;14702039;15489334;16344560;19041431;19946888;19968988;20071333;20353833;20509834;20653428;21252943;21890473;21906983;22505724;22939629;23874603;24816145;25015289;7539551 64005 B0I1T2;F8WAS7;F8WEW9 AA651942;AB290179;ABBA01058244;AC004847;AF380932;AF380933;AK074050;AK074135;AK097912;AK131089;AL832302;AMYH02015634;BC007370;BC015693;BC041623;BC063854;BC113544;BC117241;BI910371;CH236960;CH471128;DB131347;NM_033054 AAH15693;AAI13545;AAI17242;AAK58092;AAK58093;B0I1T2;BAB84876;BAB84961;BAC85139;BAG06733;BAG53548;EAL23748;EAW61068;EAW61069;EAW61070;EAW61071;EAW61072;NP_149043 Hs.37617 5017541 MYO1G HA2;HLA-HA2;MGC142104;MHAG OTTHUMP00000208732;minor histocompatibility antigen HA-2;myosin-Ig;unconventional myosin-Ig APPROVED protein-coding ENSG00000136286 HGNC:13880 17622 600642 VALIDATED 1322095 MYLK myosin light chain kinase This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008] 3 3 3 q21 121738078 122010598 - 123331143 123603149 - 123612296 123884302 - 1581052;1580863;4891489;4891491;4891492;6480464;8699517;8554872;7240710 16399953;17472811;18766098;20035030 10036190;10092231;10198165;10362724;10402467;10536370;10748018;11062269;11113114;11306802;11481347;11976941;12107410;12110694;12408982;12460991;12477932;14627618;14702039;14741352;14968112;15020676;15056655;15087444;1519061;15507455;15681825;15817725;15825080;16284075;16306123;16723733;16835238;17244674;17266121;17474147;18029348;18218860;18363837;18496125;18521921;18574677;18710790;18828194;19011151;19264973;19277499;19429448;19549383;19706030;19826488;19913121;20053363;20081554;20098615;20181817;20207250;20301299;20453870;20628086;20861316;21055718;21297165;2160950;21652678;22015949;22135309;22219181;22377736;22505724;22623531;22808459;23306855;23492194;23656735;23788249;23951055;3079756;3160694;6547441;7947686;8294496;8575746;8889548;9160829;9806740 4638 D6R9C2;F8WBL7;Q15746 AB037663;ABBA01016449;ABBA01016450;ABBA01016451;ABBA01016452;AC020634;AC023165;AC117381;AF069601;AF069602;AF069603;AF069604;AF096769;AF096770;AF096771;AF096773;AF096774;AF096775;AF172084;AK022278;AK025953;AK127437;AK300610;AK311053;AK314412;AK314443;AL832211;AMYH02007556;AMYH02007557;AMYH02007558;AY339601;AY424269;AY424270;BC015838;BC017811;BC034911;BC040115;BC062755;BC064420;BC064695;BC100761;BC100762;BC100763;BC107783;BC113456;BC113458;BM723621;BU678390;CA391484;CA391924;CA432076;CH471052;CR749364;DQ642691;DQ642692;NG_029111;NM_053025;NM_053026;NM_053027;NM_053028;NM_053031;NM_053032;U48959;X85337;X90870;XM_005247492;XM_005247493;XM_005247494;XM_006713649;Y09530 AAC18423;AAD15921;AAD15922;AAD15923;AAD15924;AAD51380;AAD51381;AAD54017;AAD54018;AAD54019;AAH17811;AAH64420;AAI00762;AAI00763;AAI00764;AAI07784;AAI13457;AAI13459;AAQ02673;AAQ13607;AAR29061;AAR29062;ABG25912;ABG25913;BAB21504;BAG37033;BAG37052;BAG62305;CAA59685;CAA62378;CAA70723;CAH18217;EAW79435;EAW79436;EAW79437;EAW79438;EAW79439;EAW79440;EAW79441;EAW79442;EAW79443;EAW79444;EAW79445;EAW79446;NP_444253;NP_444254;NP_444255;NP_444256;NP_444259;NP_444260;Q15746;XP_005247549;XP_005247550;XP_005247551;XP_006713712 Hs.477375 1336304;1699598;1731683;1753527;1771665;1854352;2119363;2122277;2147888;2160414;2166249;2182440;5014051;5015881;5016596;5022200;5022651;5037552 A004V23;A006U08;D11S2921;D3S1668;D3S3552;D8S2278;D8S2279;GDB:335751;GDB:631802;L18426;RH103400;RH36624;RH45477;RH77851;SHGC-107378;SHGC-77269;SHGC-77271;SHGC-77279 AAT7;DKFZp686I10125;FLJ12216;KRP;MLCK;MLCK1;MLCK108;MLCK210;MSTP083;MYLK1;smMLCK OTTHUMP00000180642;OTTHUMP00000180643;OTTHUMP00000215974;OTTHUMP00000225212;kinase-related protein;myosin light chain kinase, smooth muscle;myosin, light polypeptide kinase;smooth muscle myosin light chain kinase;telokin APPROVED protein-coding ENSG00000065534 HGNC:7590 02952 600922;613780 REVIEWED 1349635 MYO3A myosin IIIA The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008] 10 10 10 p11.1 25934775 26213211 + 26223002 26501465 + 25934073 26212536 + 1580863;1600555;6480464;7240710;8547667;8554872;8699517 12032315;19804752 10936054;12477932;1262820;12672820;15164054;15203218;15302935;15761153;16169070;16385451;17012748;17021180;17074769;18229949;19229853;20090771;20301607;20610541;20826793;23251661;23534349;24214986 53904 B1ANA3;F5H0U9;Q8NEV4 ABBA01034422;ABBA01034423;ABBA01034424;ABBA01034425;AF229172;AK310468;AK310494;AL162503;AL358612;AL360217;AL391812;AMYH02022492;AMYH02022493;AMYH02022494;AY101367;BC036079;BC045538;BC119811;BC125272;CD628204;CD628208;CH471072;CK903348;NG_011635;NM_017433 AAF70861;AAH36079;AAH45538;AAI19812;AAI56363;AAM34500;EAW86105;NP_059129;Q8NEV4 Hs.662630 1335209;1338180;1658490;1680815;1758403;1759261;1782222 D10S1160;D10S1775;D10S2481;RH92482;SHGC-148251;SHGC-150838;SHGC-84170 DFNB30 OTTHUMP00000019339;myosin-IIIa APPROVED protein-coding ENSG00000095777 HGNC:7601 06008 606808;607101 REVIEWED 1350355 MYO1E myosin IE This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012] 15 15 15 q21-q22 36316513 36553029 - 59428168 59665071 - 59135969 59372872 - 1580863;6480464;8699517;7240710;8554872 11940582;12477932;16712791;17257598;17620012;18781797;20379614;20860408;21139048;21145461;21697813;21756023;21890473;21906983;21963094;21987572;22266860;22863883;22916037;22939629;23398456;24047820;24332808;24750828;25027693;7932763;8022818;8884266;9367879;9858156 4643 H0YLE5;H0YLJ4;H0YN00;H0YNB0;H0YNQ8;Q12965;Q4KMR3 AB290177;ABBA01038963;ABBA01038964;ABBA01038965;ABBA01038966;ABBA01038967;ABBA01038968;ABBA01038969;AC092756;AC092757;AC092868;AK291688;AL707587;AMYH02030541;AMYH02030542;BC098392;BQ054624;BX489024;CA429161;CB128582;CH471082;L29139;NG_031999;NM_004998;U14391 AAA20902;AAA62667;AAH98392;BAF84377;BAG06731;EAW77564;NP_004989;Q12965 Hs.654506 1644654;1694994;1697414;1712653;1756807;1770988;1777435;2130700;2133388;2139577;2158099 D15S1194;G44710;RH102207;RH121991;RH46187;RH68605;SHGC-143944;SHGC-53200;STS-AA031593;STS-L17330;STS-U14391 FSGS6;HuncM-IC;MGC104638;MYO1C MYO1E variant protein;myosin-IC;myosin-Ie;unconventional myosin 1E;unconventional myosin-Ie APPROVED protein-coding HGNC:7599 03281 601479;614131 REVIEWED 3476781 MYO5BP1 myosin VB pseudogene 1 9 9 p11.2 45369843 45378019 + 41286820 41294996 + 441420 AL845472;AMYH02020328;NG_022974 1701614 RH104448 pseudo HGNC:38495 INFERRED 3476709 MYO5BP3 myosin VB pseudogene 3 9 9 q13 68357278 68358560 - 63761544 63762826 - 441442 ABBA01039236;AC246050;AL772155;NG_021621 1701614 RH104448 pseudo HGNC:38497 INFERRED 3498030 MYO5BP2 myosin VB pseudogene 2 INTERACTS WITH aflatoxin B1 9 9 q13 66513025 66514307 + 62857201 62858483 + 6480464 392335 ABBA01027385;AL512625;NG_021658 1701614 RH104448 pseudo HGNC:38496 INFERRED 1352249 MYO3B myosin IIIB This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] 2 2 2 q31.1-q31.2 164651295 165128332 + 171034655 171511674 + 170178145 170655164 + 6480464;8554872 11991710;12477932;12631723;14702039;15815621;20200978;20379614;20972266;21674799;22589738;22623531;22939624;23251661;23362303 140469 B7ZM71;F5H2J1;H7C1M9;Q8WXR4 ABBA01014907;ABBA01014908;ABBA01014909;ABBA01014910;ABBA01014911;ABBA01014912;ABBA01014913;ABBA01014914;AC007277;AC012594;AC068280;AC093402;AC114794;AF369908;AF391554;AF391555;AF391556;AF391557;AF391558;AK055778;AMYH02005202;AMYH02005203;AMYH02005204;AMYH02005205;AMYH02005206;AMYH02005207;BC040019;BC136620;BC144307;BX647895;CH471058;KF456734;NG_034020;NM_001083615;NM_138995;NR_045682;NR_045683;NR_045684;XM_006712299 AAI36621;AAI44308;AAL57233;AAO13799;AAO13800;AAO13801;AAO13802;AAO13803;AAY14892;AAY24159;AAY24324;BAB71011;EAX11243;EAX11244;EAX11245;EAX11246;NP_001077084;NP_620482;Q8WXR4;XP_006712362 Hs.671900 1339631;1340666;1645565;1659138;1707602;1718037;1721781;1725101;1767137;1783918;1854335;5015861;5020242;5037552;7185938;7186753 A109YC1;CHLC.GAAT1A10;D10S16;D11S2612;D2S1434;D2S2284;D2S376;D8S2279;G59761;RH118848;RH122635;SHGC-106971;SHGC-14361;SHGC-84613 OTTHUMP00000204841;OTTHUMP00000204842;OTTHUMP00000204843;OTTHUMP00000204844;OTTHUMP00000204848;OTTHUMP00000237453;myosin-IIIb protein-coding ENSG00000071909 HGNC:15576 17623 610040 REVIEWED 1350940 MYO1H myosin IH ENCODES a protein that exhibits actin binding (inferred); ATP binding (inferred); motor activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN myosin complex (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog) 12 12 12 q24.11 109450872 109510550 + 109826439 109886176 + 109388719 109448371 + 6480464;8554872 11181995;14702039;16344560;20864672;22196185 283446 B4DNW6;Q8N1T3;S4R387 ABBA01005069;AC007570;AC012384;AK094906;AK298093;AMYH02027171;AMYH02027172;BU616423;CH471054;CR747253;DB339279;DC359165;DC401393;DV080092;DV080385;DV080459;DV080460;DV080477;NM_001101421 BAC04454;BAG60378;EAW97858;EAW97859;NP_001094891;Q8N1T3 Hs.512008 1340708;2169225;2172417;2172419 D12S1583;G12110;WI-15687;WI-16017 FLJ37587 OTTHUMP00000240538;myosin-1H;myosin-Ih;unconventional myosin-Ih protein-coding ENSG00000174527 HGNC:13879 08227 614636 PROVISIONAL 1352294 MYO6 myosin VI This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] 6 6 6 q13 76852216 77022585 + 76458893 76629254 + 75749176 75919537 + 1600556;1580863;2314958;2314956;2314963;6480464;6484113;7240710;8547669;8547672;8554872;8699517 11468689;15146066;16107581;18543251;20624897;22715884 10198040;10519557;11447109;11517222;11707568;11728438;11906161;11967127;12050163;12477932;12687499;12857860;12893809;14574404;14702039;15044955;15060111;15123708;15231748;15247260;15837803;16169070;16196087;16335966;16344560;16499958;16507995;16908842;16948370;16949370;17071605;17187061;17353931;17550899;17635994;17683200;18029400;18212818;18311135;18348273;18429820;19056867;19615732;19855435;19893302;19913121;19946888;20161783;20201926;20301607;20353999;20379614;20473970;20576604;20604900;20628086;20850010;20936779;20972266;21139048;21148290;21182205;21278381;21735821;21890473;21906983;21963094;21987572;22053931;22171985;22266860;22268729;22321127;22323290;22884421;22992744;23000965;23023224;23340379;23398456;23503661;23635807;24028494;25015289;25027693;7493015;7929586;8022818;9205841;9259267;9852149 4646 E7EW20;Q5JVM0;Q9UM54 AB002387;ABBA01040364;ABBA01040365;ABBA01040366;ABBA01040367;ABBA01040368;ABBA01040369;AF229111;AK095294;AL109897;AL136093;AL392166;AMYH02013935;AMYH02013936;AMYH02013937;AMYH02013938;AMYH02013939;BC012598;BC146764;BX647397;CH471051;DB088907;L29145;NG_009934;NM_001300899;NM_004999;U90236;XM_005248719;XM_005248720;XM_005248721;XM_005248722;XM_005248724;XM_005248725;XM_005248726 AAA20908;AAC51654;AAI46765;AAK00229;BAA20843;EAW48728;EAW48729;EAW48730;EAW48731;NP_001287828;NP_004990;Q9UM54;XP_005248776;XP_005248777;XP_005248778;XP_005248779;XP_005248781;XP_005248782;XP_005248783 Hs.149387 1661619;1666476;1671328;1680976;1689706;1725677;1771342;2124130;2180750;2219962;5037552 D6S1172E;D6S1986;D8S2279;G35301;G62106;MYO6__6198;RH48988;RH76105;STS-AA025570;STS-AA030004;STS-N39073 DFNA22;DFNB37;KIAA0389 OTTHUMP00000016759;OTTHUMP00000016760;OTTHUMP00000016761;myosin-VI;unconventional myosin-6;unconventional myosin-VI APPROVED protein-coding ENSG00000196586 HGNC:7605 02985 600970;606346;607821 REVIEWED 736652 MYO5B myosin VB The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009] 18 18 18 q21 44205823 44578011 - 47349156 47721542 - 49822786 50195081 - 1580863;2312655;2312656;6480464;7240710;8554872;8699517 17156409;18431594 10574461;11408590;11495908;12393859;12421765;12477932;14702039;15004234;15527767;16214890;16344560;16713569;17462998;17507647;18317468;18724368;19006234;19008234;19056867;19542231;19610025;20186687;20379614;21199752;21206382;21282656;21988832;22134786;2236059;22420646;22441677;23398456;23456500;23561489;24097982;24138727;24248336;24339992;24375397;24892806;7757816;8022818;8884266 4645 Q7Z7A5;Q9ULV0 AB032945;AB290160;ABBA01018665;ABBA01018666;ABBA01018667;ABBA01018668;ABBA01018669;AC090227;AC091044;AC092705;AC105224;AK025336;AK093149;AK301976;AL133643;AMYH02034701;AMYH02034702;AY274809;BC032511;BC033527;BX641287;DA350416;KF456406;KF456407;KF456408;KF456414;L29143;NG_012925;NM_001080467;Z38208 AAA20906;AAH33527;AAP42074;BAA86433;BAB15114;BAG06714;BAG52664;BAG63387;NP_001073936;Q9ULV0 Hs.720076 1336700;1341101;1341929;1706862;1722975;1726369;1726759;1739863;1762673;1763133;1787488;1855658;2164742;2219960;7186279 D18S1018;D18S1061;D18S1126;D18S470;D18S473;G60586;G62485;G62767;MYO5B__6197;RH17962;SHGC-146466;SHGC-146864;SHGC-155407;SHGC-80914 KIAA1119 MYO5B variant protein;myosin 5b;myosin-Vb;unconventional myosin-Vb APPROVED protein-coding ENSG00000167306 HGNC:7603 251850;606540 REVIEWED 732206 MYO7A myosin VIIA This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 11 11 11 q13.5 74146794 74233913 + 76839302 76926286 + 77128256 77215241 + 1581470;1580863;737744;4892285;6480464;7240710;8547667;8694152;8547671;8547536;8554872;8699517;8694136;8694137;8694138;8694151;8694135 12112664;12485990;15592175;15965244;19804752;20212494;22177415;22381527;23991031;24194196;8900236;9680294 10094549;10364543;10889203;10930322;11080149;11162241;11171103;11398101;11921171;11964381;12221080;12466270;12477932;12588794;1478677;15121790;15180257;15221449;15300860;15590698;15606003;15660226;15823922;15976448;16001398;16226712;16400615;16449806;16470552;16679490;17093394;17361009;17702415;17960123;18181211;18323324;18463160;18484607;18700726;19074810;19299023;19320733;19324852;19375528;19683999;19948975;20132242;20201926;20301442;20301607;20801516;20844544;21031134;21150918;21378158;21482763;21687988;21873662;21901789;22219650;22505724;22681893;22690115;22745667;23344065;23383098;23559863;23770805;24022220;24199935;24275721;24618850;7568224;7870171;7951250;8022818;8599365;8622919;8776602;8842737;8884266;8884267;9002678;9070921;9171832;9171833;9354784;9382091;9718356;9843659 4647 B9A012;H7C4D8;Q13402 AB209629;AB290181;ABBA01017438;ABBA01017439;AMYH02025130;AP000752;AP001855;BC023212;BC030215;BC144519;BG108466;CH471076;KF511157;L29146;NG_009086;NM_000260;NM_001127179;NM_001127180;U34227;U39226;U55208;U55209;XM_005274012;XM_006718558;XM_006718559;XM_006718560;XM_006718561 AAA20909;AAB03679;AAC50218;AAC50722;AAC50927;AAI72349;BAD92866;BAG06735;EAW75018;EAW75019;EAW75020;EAW75021;EAW75022;EAW75023;NP_000251;NP_001120651;NP_001120652;Q13402;XP_005274069;XP_006718621;XP_006718622;XP_006718623;XP_006718624 Hs.370421 1683892;1685239;1703774;1733766;1761581;1762815;2140105;2190927;2219964;5117576;5122253 D11S2103;GDB:581521;MARC_11617-11618:1002744065:3;MYO7A__6199;RH66537;RH79024;RH80322;RH80831;SHGC-145582;SHGC-146593;SHGC-83220 DFNA11;DFNB2;MYOVIIA;MYU7A;NSRD2;USH1B OTTHUMP00000202523;OTTHUMP00000202524;OTTHUMP00000202525;OTTHUMP00000228841;deafness, autosomal dominant 11;deafness, autosomal recessive 2;myosin VIIA (Usher syndrome 1B (autosomal recessive, severe));myosin-VIIa;unconventional myosin-VIIa APPROVED protein-coding ENSG00000137474 HGNC:7606 02043 276900;276903;600060;601317 REVIEWED 1320254 MYO1F myosin IF ENCODES a protein that exhibits ATP binding (inferred); calmodulin binding (inferred); motor activity (inferred); INVOLVED IN defense response to Gram-positive bacterium (inferred); metabolic process (inferred); negative regulation of cell adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cortical actin cytoskeleton (inferred); filamentous actin (inferred); myosin complex (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p13.3-p13.2 8443349 8501002 - 8585674 8642331 - 8520790 8577447 - 1580863;6480464;8554872 11804589;12477932;14702039;15489334;16189514;16344560;17081983;18391951;18854154;19027848;20876399;20881960;21890473;21906983;21963094;21987572;21988832;24250222;24332808;8022818;8884266;9119401 4542 M0QXE0;M0QXU2;M0QXU5;M0QY89;O00160;Q4LE34 AB210037;AB290178;ABBA01010835;ABBA01010836;ABBA01010837;ABBA01010838;ABBA01010839;ABBA01010840;ABBA01010841;AC092298;AC092316;AC124902;AC130469;AJ310570;AK131106;AK301166;AMYH02035444;AMYH02035445;BC028071;CH471139;DA380582;L29140;NM_012335;U57053;X98411;XM_005272475;XM_005272476;XM_005272477;XR_430140 AAA20903;AAC50726;AAH28071;ABM82002;ABM82011;ABW03355;BAC85156;BAE06119;BAG06732;BAG62755;CAA67058;CAC83948;EAW68909;EAW68910;EAW68911;EAW68912;NP_036467;O00160;XP_005272532;XP_005272533;XP_005272534 Hs.465818 1338370;2108279;2164554 D19S391;MYO1F_8481;RH65685 OTTHUMP00000209063;myosin-ID;myosin-Ie;myosin-If;unconventional myosin-If protein-coding ENSG00000142347 HGNC:7600 03282 601480 VALIDATED 737429 MYOC myocilin, trabecular meshwork inducible glucocorticoid response MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008] 1 1 1 q23-q24 144713951 144731166 - 171604557 171621773 - 171635417 171652633 - 1600838;1600840;1600842;1580863;6480464;7240710;7394804;7401168;7401171;7401251;7394801;7394828;7394816;7401245;7394848;7394841;7394798;7401175;7394792;7394834;7401170;7401163;7394787;7394791;7394789;7394800;7401266;1601004;7401164;7401247;7401267;7401189;7401186;7401192;7394831;7401240;7771548;7401254;7401248;7394814;7394843;7394788;7401194;8554872;8699517 10196380;11595024;12189160;12215093;12442283;12447164;12799138;12860809;15483649;15610237;15623777;16148883;16401791;16431959;17102796;17197538;17893664;17893668;18334962;19145250;19234343;19688280;19784393;20107173;20179615;20806035;21655360;22328638;22736945;22879734;22933836;23322580;23453510;23517641;23566828;23876925;23886590;9005853;9535666;9792882 10330365;10644174;10819638;10990486;11053284;11133859;11431441;11527946;11738824;11773026;11773029;11774072;11807810;11853639;11910561;11923248;11992263;12019210;12060848;12126543;12190780;12356829;12362081;12411077;12470758;12477932;12504739;12522550;12615070;12671462;12671463;12697062;12782842;12789574;12817590;12851728;12868033;12872267;12912696;14680806;14688426;14702039;14740993;14767915;15025728;15137056;15161538;15194423;15255110;15338275;15342693;15354075;15489334;15534471;15646469;15652337;15723004;15733270;15795224;15823921;15851979;15944158;15953455;16198165;16226543;16280977;16289162;16316624;16358725;16374045;16392033;16458712;16636654;16681888;16688110;16710414;16902400;17122126;17210859;17224759;17304254;17317787;17321191;17417609;17417611;17438518;17499207;17516541;17562996;17563717;17605937;17615537;17650508;17663725;17679945;17867509;17960117;17966125;17984096;18195223;18214788;18303389;18385784;18427622;18436825;18449353;18537981;18591929;18728751;18776955;18841557;18852424;18855004;18952665;19023451;19096718;19148291;19180258;19188438;19260140;19287508;19390644;19407846;19662433;19668597;19959812;20021252;20198978;20447966;20664688;20668460;20801516;21031026;21168818;21174523;21203411;21426841;21552496;21656515;21677793;21850185;22194650;22197377;22247475;22463803;22550394;22615763;22809227;22876119;22942166;23028769;23029558;23035116;23129764;23218701;23304066;23629661;23764838;24003086;24333014;24563482;24741044;24768183;24883016;8279471;8513321;8749308;9169133;9280311;9328473;9345106;9361308;9446806;9490287;9497363;9521427;9548973;9697688;9863594 4653 Q8N854;Q99972 AB006688;ABBA01027926;AF001620;AF049793;AK097310;AK300924;AK300943;AK301297;AK315443;AMYH02002141;AY599652;BC029261;CH471067;D88214;FJ227302;FJ237046;FJ237047;NG_008859;NM_000261;U85257;Z97171;Z97174;Z98750 AAC14264;AAC51725;AAC52051;AAH29261;AAT09137;ABM83341;ABM86555;ACI42983;ACI62292;ACI62293;BAA23531;BAA24532;BAC04997;BAG37831;BAG62556;BAG62572;BAG62854;CAB09899;EAW90903;NP_000252;Q99972 Hs.436037 1692818;1692826;1693160;1792664;1793960;1793962;1793964;2108285;2112002;2123577 AL034307;D1S3666;G42275;G42280;MYOC_8491;PMC156599P1;PMC310708P1;PMC310708P2;PMC310708P3;SHGC-75918 GLC1A;GPOA;JOAG;JOAG1;TIGR OTTHUMP00000032681;mutated trabecular meshwork-induced glucocorticoid response protein;myocilin;myocilin 55 kDa subunit APPROVED protein-coding ENSG00000034971 HGNC:7610 03387 137750;601652 REVIEWED 1320640 MYO5C myosin VC ENCODES a protein that exhibits actin binding (inferred); ATP binding (inferred); calmodulin binding (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 15 15 15 q21 29378960 29483015 - 52484515 52587995 - 52192318 52295798 - 1580863;6480464;8554872 11870218;12477932;17314511;17507647;18079121;18201966;19008234;19322201;19641326;19741097;20379614;21890473;21906983;21988832;23398456;24097982;24339992;8022818 55930 H0YM93;H0YM96;H0YMK3;Q9NQX4 ABBA01039064;ABBA01039065;AC010674;AF161352;AF272390;AK131493;AK301079;AK304136;AMYH02030446;AMYH02030447;BC064841;BC144611;CH471082;KF456045;L29144;NM_018728;XM_006720607 AAA20907;AAF28912;AAF78783;AAH64841;AAI67830;BAG62684;BAG65030;EAW77446;NP_061198;Q9NQX4;XP_006720670 Hs.487036 1656416;1694996;1706264;1753377;1770358;1773033;2127080;2161960;5022649 A003P09;A008V02;D11S2875;G44711;RH45438;SHGC-107190;SHGC-57435;SHGC-80681;STS-AA004803 MGC74969 myosin 5C;myosin-Vc;unconventional myosin-Vc protein-coding ENSG00000128833 HGNC:7604 11380 610022 VALIDATED 1353183 MYOD1 myogenic differentiation 1 This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 17873623 17876191 + 17741110 17743678 + 17719563 17722131 + 1580863;6480464 10022835;10082523;10406466;10471746;10583555;10601020;10619020;10672515;10757985;10764802;10915743;10924525;10944526;11025438;11076940;11279181;11285237;11371506;11463815;11532390;11684023;11711431;11756408;11784080;12105204;12145280;12196028;12397066;12477932;12657651;12665587;12716875;12887892;12947115;1310896;1320026;1335366;1406681;14660660;14767572;15029197;15163661;15173318;15231748;15251938;15520282;15674337;15743821;15870273;15923648;16007194;16099183;16435141;1649701;16614355;16841087;16858404;17011493;17014844;17378682;17487425;17693064;17940050;17964260;18078839;1846704;1849142;1850513;18599480;18674781;18676376;18765668;19188441;19299559;19453261;19553684;19723804;19733896;20124407;20139084;20195544;20333749;20364308;20716948;20966410;20980337;21321994;21326383;21440539;21732495;2176177;21832073;21859860;21936881;21988832;22068056;22153073;22277673;2253873;22591756;22613845;22621191;22727434;2315312;23226416;23230269;23383201;23438194;24092238;24272621;24793135;25025573;2550138;2583111;3175662;8380166;8381715;8548800;8576241;8617811;8621548;8759016;8797820;8922385;8999959;9001211;9001254;9050988;9184158;9234731;9235903;9238849;9242638;9343420;9372912;9407021;9418854;9482738;9528857;9546368;9659901;9692544;9710583;9774340;9826778;9862959 4654 P15172 ABBA01061062;AC124301;AF027148;AI300241;AK314968;AMYH02024384;BC064493;BF205042;BF304059;BT007157;CH471064;NM_002478;X17650;X56677 AAC29001;AAH64493;AAP35821;BAG37469;CAA35640;CAA40000;EAW68427;NP_002469;P15172 Hs.181768 1797894;5120163;5127655 GDB:197900;MYOD1;MYOD1_2535 MYF3;MYOD;PUM;bHLHc1;myf-3 OTTHUMP00000232717;class C basic helix-loop-helix protein 1;myoblast determination protein 1;myogenic factor 3 APPROVED protein-coding ENSG00000129152 HGNC:7611 01166 159970 REVIEWED 1344327 MYOCD myocardin This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 17 p11.2 12594549 12695987 + 12569207 12672266 + 12665890 12768949 + 1580863;6480464;6484113;8554872 11439182;12397177;12477932;12640126;12756293;14702039;14970199;15014501;15907818;16054032;16141410;16151017;16224064;16344560;16625196;16818234;17215356;17292825;17360478;17430246;17579192;17620599;17938287;17940050;17991879;18028454;18451334;18772130;18852265;19098903;19156129;19237536;19276386;19342595;19776005;19797053;19801679;19883264;19952936;20068148;20379614;20385216;20458751;20560679;20848417;21051663;21506120;21984848;22075245;22666593;22675492;22843699;22850315;22937150;23175675;23342164;23671695;23704920;23861494;24060351;24344135 93649 J3KSX3;Q6N065;Q8IZQ8 ABBA01055006;ABBA01055007;ABBA01055008;AC005358;AF532596;AK095846;AK096753;AK097821;AK128608;AK292885;AMYH02033010;AMYH02033011;AY764180;BC126307;BC143391;BQ000229;BX640673;CH471108;DA650534;DB226467;NG_012972;NM_001146312;NM_153604;XM_005256863;XM_005256864 AAI26308;AAI43392;AAN33040;AAV33439;BAC05177;BAF85574;CAE45805;EAW89970;EAW89971;NP_001139784;NP_705832;Q8IZQ8;XP_005256920;XP_005256921 Hs.462257;Hs.567641 MYCD OTTHUMP00000064674;OTTHUMP00000064675;OTTHUMP00000064676 APPROVED protein-coding ENSG00000141052 HGNC:16067 09362 606127 REVIEWED 731453 MYO5A myosin VA (heavy chain 12, myoxin) This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008] 15 15 15 q21 29494500 29716298 - 52599480 52821247 - 52307283 52529050 - 1580863;1600819;1600821;2302397;6480464;7240710;8699517;8554872 12058346;18570632;9207796 10391919;10448864;10529054;10704277;10733681;10844022;11148209;11432975;11546872;11856727;11870218;11980908;12006666;12062444;12147688;12148598;12403814;12531900;12603861;12897212;14702039;14730011;15059972;15117313;15772161;15788565;16097034;17029413;17487986;17635110;17891151;17898234;18029348;18311135;18330901;18401430;18478159;18676680;19008234;19009530;19170196;19320733;19521958;19590514;19625176;19692168;19808891;19946888;20203291;20379614;20473970;20631136;21139048;21245139;21349835;21740491;22172676;22437832;22586326;23176491;23398456;23652798;23934736;24006491;24097982;24248336;24339992;24816145;7835087;8022818;8188282;8889548;9826529;9852149 4644 A8CDT9;E7ERV5;F8W6H6;F8WE88;G3V394;G3V3C9;O95317;Q9UES4;Q9UES5;Q9Y4I1 AB209487;AB209505;AB290180;ABBA01039061;ABBA01039062;ABBA01039063;ABBA01039064;AC010674;AC018902;AC025917;AF055459;AF090424;AF090425;AF090426;AF090427;AF090428;AK090859;AK124898;AK303660;AK307600;AMYH02030448;AMYH02030449;AMYH02030450;AMYH02030451;AMYH02030452;BU738571;CH471082;EU921839;KF459554;NG_009887;NM_000259;NM_001142495;S74799;U90942;XM_005254397;XM_005254398;XM_005254399;XM_005254400;XM_005254401;XM_005254402;XM_005254403;Y07759 AAB33211;AAC14188;AAC83701;AAC83702;AAC83703;AAC83704;AAC83705;AAD00702;AAI56393;AAI72485;ACH48182;BAD92724;BAD92742;BAF80583;BAG64659;CAA69035;CAA69036;EAW77447;EAW77448;EAW77449;EAW77450;EAW77451;EAW77452;EAW77453;NP_000250;NP_001135967;Q9Y4I1;XP_005254454;XP_005254455;XP_005254456;XP_005254457;XP_005254458;XP_005254459;XP_005254460 Hs.21213;Hs.596221 1339116;1665380;1669591;1691294;1700504;1780110;1780150;1796384;2113850;2114174;2130158;2154020;2186375;5037552;5094852 A004G21;AB060208;D15S1032;D8S2279;MYO5A;MYO5A_1542;RH103873;RH66379;RH69927;RH80631;SHGC-154423;SHGC-154476;STS-R41828;WI-12413;WI-19762 GS1;MYH12;MYO5;MYR12 OTTHUMP00000174452;OTTHUMP00000174453;OTTHUMP00000245239;dilute myosin heavy chain, non-muscle;myosin V;myosin, heavy polypeptide kinase;myosin-12;myosin-Va;myoxin;unconventional myosin-Va APPROVED protein-coding ENSG00000197535 HGNC:7602 01179 160777;214450 REVIEWED 736717 MYO9B myosin IXB This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 19 19 19 p13.1 17088108 17225623 + 17186591 17324104 + 17075781 17213295 + 1580863;6480464;7240710;8554872 10737800;11801597;11901422;12477932;12938929;14517787;14702039;15146197;15644318;15790807;16169070;16282976;16338935;16417406;16423886;16616011;16720215;16943798;16948647;17081983;17087940;17176439;17267307;17314511;17584584;17667713;17767555;17944996;17948900;17967566;18077767;18361936;18804983;19142207;19235913;19911011;19946888;20096742;20303373;20881960;21139048;21515326;21688385;21900206;22573889;22952844;22954106;23368647;24778252;24816145;8022818;8907710;9226381;9490638 4650 B0I1T6;M0QXP0;M0QXX1;M0QZY4;M0R0P8;M0R240;M0R2J3;M0R300;M0R332;Q13459;Q4LE74;Q8WVD2 AB209997;AB290184;ABBA01051179;ABBA01051180;ABBA01051181;ABBA01051182;ABBA01051183;ABBA01051184;ABBA01051185;ABBA01051186;AC020908;AC020913;AC092476;AF020267;AF143684;AK002201;AMYH02035693;AMYH02035694;AMYH02035695;AMYH02035696;AMYH02035697;AY927576;BC018108;BC061639;BC094864;BF905466;BI001923;BI827217;CH471106;CN284963;DR006748;KF456519;KF511258;L29149;NG_013068;NM_001130065;NM_004145;XM_005259915;XM_006722755;XM_006722756;XM_006722757;XM_006722758 AAA20912;AAC26597;AAF00119;AAH18108;BAA92132;BAE06079;BAG06734;EAW84572;EAW84573;NP_001123537;NP_004136;Q13459;XP_005259972;XP_006722818;XP_006722819;XP_006722820;XP_006722821 Hs.123198 1335763;1341868;1672168;1680258;1687876;2108283 D19S593;D19S899;MYO9B_8490;RH65322;RH77938;WI-11661 CELIAC4;MYR5 myosin-IXb;unconventional myosin IXb;unconventional myosin from rat 3;unconventional myosin-9b;unconventional myosin-IXb APPROVED protein-coding ENSG00000099331 HGNC:7609 03677 602129;609753 REVIEWED 1320744 MYOM3 myomesin 3 ENCODES a protein that exhibits protein homodimerization activity (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN M band (ortholog); INTERACTS WITH silicon dioxide; cefaloridine (ortholog); cerium trichloride (ortholog) 1 1 1 p36.11 22712351 22768155 - 24382531 24438665 - 24056041 24112175 - 6480464;8554872 12477932;14702039;17975119;18177667;19023099;23092984 127294 Q5VTT5 ABBA01059898;AF086254;AK093280;AK125972;AK128233;AL591178;AMYH02000517;BC014671;BC067101;BX537911;BX647453;BX647455;BX647644;CH471134;NM_152372 AAH14671;AAH67101;BAC04119;BAC86370;BAC87343;CAD97895;CAH10376;CAH10377;EAW95108;EAW95109;EAW95110;NP_689585;Q5VTT5 Hs.523413 1654626;1744641;1744651;1757311;1762175;1849788 AL009599;GDB:549149;GDB:549165;SHGC-144714;SHGC-146061;SHGC-74401 FLJ35961;MGC71483;RP11-293P20.1 OTTHUMP00000003013;myomesin family, member 3;myomesin-3 APPROVED protein-coding ENSG00000142661 HGNC:26679 08200 VALIDATED 736712 MYOG myogenin (myogenic factor 4) Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008] 1 1 1 q31-q41 176181515 176184632 - 203052257 203055166 - 203083129 203086038 - 1580863;6480464;8554872 10082523;10329008;10471746;10757985;11076940;12207009;12477932;12716875;1325437;1329097;14997318;15084602;15322112;15489334;15674337;15923648;16424906;16453911;1649701;1659574;16608842;16614355;17378682;17378694;17468105;17531403;1846704;1850513;18676376;18708938;19095803;19188441;19372547;19453261;19470832;1962752;19783823;19961777;20213728;2163343;21672341;21988832;23226416;23364797;23944986;24215591;24722188;2583111;8548800;8617811;8797820;9234731;9242638;9418854 4656 P15173;Q9HCA4 ABBA01027486;AC105940;AF050501;AMYH02002509;AW469592;BC053899;BF204429;BT007233;CH471067;CS018101;CS025616;HI988279;HI988299;NM_002479;X17651;X62155 AAG22573;AAH53899;AAP35897;ACE86629;ACE87311;CAA35641;CAA44080;CAI58665;CAI61685;CBY88748;CBY88752;EAW91463;EAW91464;NP_002470;P15173 Hs.2830 1854449;2108287;2116436;2173642 G15880;MYOG_8492;SHGC-11939;STS-X17651 MYF4;bHLHc3;myf-4 OTTHUMP00000039094;class C basic helix-loop-helix protein 3;myogenic factor 4;myogenin APPROVED protein-coding ENSG00000122180 HGNC:7612 01167 159980 VALIDATED 1352567 MYO7B myosin VIIB ENCODES a protein that exhibits actin binding (inferred); ATP binding (inferred); motor activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 2 2 2 q21.1 121604332 121706245 + 128293378 128395303 + 127535763 127637728 + 6480464;8554872 11181995;12477932;14702039;19724895;19851296;20198315;20237496;22505724;24816145;8022818;8884266 4648 B9A063;C9JC21;H3BSD9;Q6PIF6 AB290182;ABBA01040201;ABBA01040202;ABBA01040203;AC010976;AK000145;AK023543;AK074183;AMYH02004734;AMYH02004735;BC035615;BC051761;CH471103;CR627350;KF510754;L29147;NM_001080527;XM_006712539 AAA20910;AAH35615;AAI72225;BAB85009;BAG06736;CAI45981;EAW95322;EAW95323;NP_001073996;Q6PIF6;XP_006712602 Hs.154578;Hs.677195 5015404;5015861;5022383;5022578;5024035;7185938 D10S16;D13S116;D1S1423;ECD04345;L17705 DKFZp686A08248 MYO7B variant protein;OTTHUMP00000203859;myosin-VIIb;unconventional myosin-VIIb protein-coding ENSG00000169994 HGNC:7607 606541 PROVISIONAL 1343651 MYOM2 myomesin 2 The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008] 8 8 8 p23.3 1935877 2035353 + 1993082 2093380 + 2045043 2145456 + 1580863;6480464;8554872 12477932;12972258;15342556;16344560;18029348;20811636;20889312;23792176;7505783;8889548;9529381;9933576 9172 E7EWH9;P54296 ABBA01016751;ABBA01016752;AC125453;AC245164;AJ708170;AK297890;AL596730;BC052969;BM720057;BP258208;BP260135;BP260324;BX501741;CH471181;DA233884;DA900083;NM_003970;X69089;XM_006716237 AAH52969;BAG60211;CAA48832;EAW51488;EAW51489;EAW51490;EAW51491;NP_003961;P54296;XP_006716300 Hs.443683 2108291;2127387;2174684 MYOM2_8909;SHGC-11993;WI-19139 TTNAP 165 kDa connectin-associated protein;165 kDa titin-associated protein;M-band protein;M-protein;OTTHUMP00000159458;OTTHUMP00000224483;myomesin (M-protein) 2, 165kDa;myomesin family member 2;myomesin-2;titin-associated protein, 165 kD APPROVED protein-coding ENSG00000036448 HGNC:7614 04619 603509 VALIDATED 1343142 MYOF myoferlin Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008] 10 10 10 q24 88807371 88983227 - 95066186 95242190 - 93306429 93482419 - 1580863;6480464;6484113 10574462;10607832;10995573;11790298;11959863;12168954;12477932;14702039;15164054;15302935;15489334;16009940;16385451;17081983;17185750;17702744;18029348;18495154;18502764;18781797;18854154;19056867;19228595;19494235;19596686;19913121;20379614;20628086;21139048;21319273;21674799;21890473;21906983;21963094;21987572;22135466;22761893;22808170;22939629;23000965;23499551;23859474;23864327;24332808;25027693 26509 H0YD14;Q9NZM1 AB033033;ABBA01021868;ABBA01021869;ABBA01021870;ABBA01021871;ABBA01021872;ABBA01021873;ABBA01021874;ABBA01021875;AF182316;AF207990;AK075258;AK093890;AL096713;AL360229;AL365364;AMYH02023554;AMYH02023555;AMYH02023556;AMYH02023557;AMYH02023558;AMYH02023559;BC014612;BC033616;BC040110;BC052617;CH471066;HH962133;NM_013451;NM_133337;XM_005269693;XM_005269694;XM_006717760 AAF27176;AAG23737;AAH40110;AAH52617;BAA86521;BAG52097;BAG52779;CAB46370;CBX51418;EAW50073;EAW50074;EAW50075;EAW50076;NP_038479;NP_579899;Q9NZM1;XP_005269750;XP_005269751;XP_006717823 Hs.602086 1342260;1763435;1764511;1782138;2134791;2168083;2187590;7185388;7185431 D10S185;D10S2363;SHGC-14548;SHGC-147145;SHGC-148111;SHGC-155375;STS-Z40200 FER1L3;FLJ36571;FLJ90777 OTTHUMP00000020111;OTTHUMP00000020112;fer-1-like 3, myoferlin;fer-1-like family member 3;fer-1-like protein 3 APPROVED protein-coding ENSG00000138119 HGNC:3656 06857 604603 REVIEWED 1351397 MYOZ1 myozenin 1 The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012] 10 10 10 q22.1 68677011 68687110 - 75391370 75401515 - 73631612 73641757 - 6480464 10427098;10984498;11114196;11171996;11842093;12477932;15489334;16076904;16189514;17254821;17434779;18029348;18157088;19472918;19616115;20149877;21139048;21145461;21832049;8889549 58529 B4DUK4;Q9NP98 AA176752;ABBA01020316;AC073389;AF240633;AF243390;AJ278124;AK300683;AK308200;AL359210;AMYH02023338;AY013297;BC025753;CH471083;NG_032583;NM_021245 AAG24509;AAG27296;AAG38940;AAH25753;ABM82475;ABM85663;BAG62366;CAB92967;CAB94568;EAW54506;NP_067068;Q9NP98 Hs.238756 1658754;1716923;2108293 MYOZ1_8078;RH121836;RH41784 CS-2;FATZ;MYOZ OTTHUMP00000019817;calsarcin-2;filamin-, actinin- and telethonin-binding protein;myozenin-1 APPROVED protein-coding ENSG00000177791 HGNC:13752 05725 605603 REVIEWED 1350442 MYP1 myopia 1 (X-linked, Bornholm eye disease included) ASSOCIATED WITH Myopia 1 (inferred) 7240710 4657 HGNC:7615 310460 1354266 MYP2 myopia 2 (high grade, autosomal dominant) ASSOCIATED WITH Myopia 2 (inferred) 7240710 9634508 4658 1335914;1338884;1339646;1340039;7186286 D18S1138;D18S481;D18S52;D18S59;D18S63 HGNC:7616 160700 1318422 MYOZ3 myozenin 3 The protein encoded by this gene is specifically expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012] 5 5 5 q33.1 146121747 146140269 + 150040403 150058930 + 150660841 150679368 + 1580863;6480464;8554872 10427098;11842093;12477932;15342556;15489334;16344560;19472918;21900206 91977 E5RII7;H0YC50;Q8TDC0 AA969304;ABBA01026274;ABBA01026275;AC008453;AF052497;AF480443;AJ277961;AJ300586;AJ300587;AK313873;AMYH02012462;BC069380;BC069553;BC074870;BC074871;BP360917;CH471062;DB054183;DB069077;DB277496;NG_032584;NM_001122853;NM_133371 AAH69380;AAH69553;AAH74870;AAH74871;AAL79336;BAG36601;CAC81912;CAC83076;CAC83077;EAW61713;EAW61714;NP_001116325;NP_588612;Q8TDC0 Hs.91626 1643874;1667267;2151269 RH47246;WI-14004;WI-17444 CS-3;CS3;FRP3 FATZ related protein 3;FATZ-related protein 3;OTTHUMP00000160555;OTTHUMP00000224406;calsarcin 3;calsarcin-3;myozenin-3 APPROVED protein-coding ENSG00000164591 HGNC:18565 17624 610735 REVIEWED 1344162 MYP3 myopia 3 (high grade, autosomal dominant) ASSOCIATED WITH Myopia 3 (inferred) 7240710 9792869 8782 1337714;1338256 D12S1706;D12S327 HGNC:7617 603221 1321551 MYOT myotilin This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008] 5 5 5 q31 133325839 133345837 + 137203536 137223540 + 137867847 137887851 + 1599673;6480464;7240710;8554872;8699517 10958653 10369880;10486214;11038172;12428213;12477932;12499399;12809483;15111675;15489334;15967462;1598902;16076904;16122733;16344560;16380616;16674563;1676560;16793270;16801328;17698502;18157088;19027924;19047374;19151983;19418025;19458539;19913121;20301582;20301672;20628086;21361873;21832049;21988832;23583979;9828127 9499 B4DT68;Q9UBF9 ABBA01068702;AC106791;AF133820;AF144477;AK300076;AK300088;AK307620;AK312733;AMYH02012277;AMYH02012278;BC005376;CH471062;DA896167;KF459595;NG_008894;NM_001135940;NM_001300911;NM_006790;XM_005272129 AAD29051;AAD44754;AAH05376;ABW03808;ACT64576;ACT64577;BAG35604;BAG61880;BAG61891;EAW62177;EAW62178;NP_001129412;NP_001287840;NP_006781;Q9UBF9;XP_005272186 Hs.84665 1643852;1684906;1699148;1735430;1735450;1768890;2106735;2185610 D5S1563E;D5S1579E;RH103150;RH47863;RH67872;RH92475;SGC34636;TTID_3933 LGMD1;LGMD1A;MFM3;TTID;TTOD 57 kDa cytoskeletal protein;OTTHUMP00000159430;OTTHUMP00000223460;OTTHUMP00000223461;myofibrillar titin-like Ig domains protein;titin immunoglobulin domain protein (myotilin) APPROVED protein-coding ENSG00000120729 HGNC:12399 04981 159000;182920;604103;609200 REVIEWED 1316992 MYOZ2 myozenin 2 The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011] 4 4 4 q26-q27 117418487 117470527 + 120056939 120108944 + 119135784 119187789 + 6480464;8699517;7240710;8554872 10427098;11114196;11161785;11171996;11842093;12477932;14993199;15342556;15489334;15582318;16076904;16189514;16949557;17347475;17434779;18591919;19047374;19447967;19472918;20301725;20332099;21988832;22987565;8619474;9110174 51778 Q9NPC6 ABBA01044703;AC092656;AC107048;AC108164;AF007160;AF249873;AF267997;AJ252149;AK313856;AMYH02009987;AY013295;BC005195;BC017402;BC020932;BM091578;BP370492;BT007214;CH471229;NG_029747;NM_016599;XM_006714234 AAC19160;AAF63623;AAG13932;AAG38938;AAH05195;AAH17402;AAH20932;AAP35878;BAG36584;CAB92965;EAW73662;NP_057683;Q9NPC6;XP_006714297 Hs.732122 1643957;1653438;1705220;2109541 MYOZ2_9762;SHGC-24072;SHGC-78080;SHGC-8552 C4orf5;CMH16;CS-1 FATZ related protein 2;FATZ-related protein 2;OTTHUMP00000163920;calcineurin-binding protein calsarcin-1;calsarcin-1;muscle-specific protein;myozenin-2 APPROVED protein-coding ENSG00000172399 HGNC:1330 05724 605602;613838 REVIEWED 732261 MYO9A myosin IXA This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011] 15 15 15 q22-q23 49004720 49296754 - 72114632 72410440 - 71822291 72118099 - 1580863;6480464;8554872 10409426;12477932;14702039;15644318;16169070;16204458;16344560;16712791;17314511;19156129;20881960;20936779;22305756;23319000;23870313;24250222;8022818 4649 B2RTY4;H3BMM1;H3BMS3;H3BP49;H3BRD5;H3BSU8;H3BTL9;H3BU05;H3BV44 AB209841;AB290183;ABBA01038737;ABBA01038738;ABBA01038739;ABBA01038740;AC020779;AC022872;AC090454;AC104938;AF117888;AJ001714;AK001923;AK023306;AL137287;AMYH02030738;AMYH02030739;AMYH02030740;AMYH02030741;AMYH02030742;AMYH02030743;AMYH02030744;AMYH02030745;AMYH02030746;AMYH02030747;AMYH02030748;AMYH02030749;AMYH02030750;BC039397;BC060886;BC140869;BC144683;BC150294;CB140040;CH471082;DB085692;DB100556;DQ088983;DQ088984;L29148;NM_006901;XM_005254404;XM_006720539;XM_006720540;XM_006720541 AAA20911;AAD49195;AAH60886;AAI40870;AAZ85978;AAZ85979;B2RTY4;BAA91979;BAB14517;BAD93078;BAG06737;CAA04947;CAB70679;EAW77879;EAW77880;NP_008832;XP_005254461;XP_006720602;XP_006720603;XP_006720604 Hs.513000;Hs.546268;Hs.733087 1335689;1341452;1653500;1673581;1684154;1725511;1729942;1789024;1847385;1853311;2108281;2121197;2136725;2138070;2140339;2145956;2168103;2183818;2185464;5022651;5092752;5096513;7186739 A005Y05;D11S2921;D15S110;D15S1267;D15S1290;D15S1331;D15S197;D15S204;D17S713;G32306;G65645;MYO9A_8489;RH119152;RH65452;RH68081;RH79619;SGC31120;SHGC-31014;SHGC-58165;STS-H02614;STS-T57042;WI-17911 FLJ11061;FLJ13244;MGC71859 MYO9A variant protein;OTTHUMP00000164639;myosin-IXa;unconventional myosin-9a;unconventional myosin-IXa APPROVED protein-coding ENSG00000066933 HGNC:7608 05341 604875 REVIEWED 1606912 MYPOP Myb-related transcription factor, partner of profilin ENCODES a protein that exhibits chromatin binding (inferred); protein homodimerization activity (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.32 43198306 43210886 - 46393281 46405862 - 45890023 45902604 - 6480464 12477932;15615774;24250222 339344 Q86VE0 ABBA01040957;AC008623;AMYH02036211;BC044311;NM_001012643 AAH44311;NP_001012661;Q86VE0 Hs.515478 2164712 A007C31 P42pop myb-related protein p42POP;p42 Myb-related transcription factor, partner of profilin;partner of profilin protein-coding ENSG00000176182 HGNC:20178 17352 PROVISIONAL 1349284 MYSA myasthenic (Lambert-Eaton) syndrome antigen A 8494331 4655 HGNC:7620 1346217 MYOM1 myomesin 1 The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 18 18 18 p11.31 2942458 3099594 - 3066805 3220106 - 3066807 3220108 - 1580863;6480464;8554872 10036188;10744711;12477932;12878677;12972258;15571722;15890201;18059477;19460752;20379614;21069531;21256114;21794030;22347812;6537951;7505783;7588733;9806852 8736 A8MX12;J3KRK2;P52179 ABBA01049843;ABBA01049844;ABBA01049845;ABBA01049846;ABBA01049847;ABBA01049848;ABBA01049849;AF185573;AI221348;AJ621424;AK125322;AK302444;AMYH02034219;AMYH02034220;AMYH02034221;AMYH02034222;AP005329;AP005431;BC116183;BC116184;CH471113;NG_032120;NM_003803;NM_019856;X69090 AAF63190;AAI16184;BAC86128;BAG63741;CAA48833;CAF18565;EAX01683;EAX01684;NP_003794;NP_062830;P52179 Hs.464469 1731719;2108289;2162789;2172204;5109561;5114534 D18S1029;D18S1370;D18S502;D18S901E;MYOM1_8851;WI-19689 MGC134946;MGC134947 190 kDa connectin-associated protein;190 kDa titin-associated protein;EH-myomesin;SKELEMIN;myomesin (M-protein) 1 (190kD);myomesin 1 (skelemin) (185kD);myomesin 1 (skelemin) 185kDa;myomesin 1, 185kDa;myomesin family member 1;myomesin-1 APPROVED protein-coding ENSG00000101605 HGNC:7613 04618 603508 REVIEWED 1318320 MYPN myopalladin Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 10 10 10 q21.3 63143861 63246302 + 69865874 69971774 + 68106117 68212017 + 6480464;8554872 11076863;11230166;11309420;12477932;12482578;14583192;14702039;15164054;15489336;16164966;16381901;16385451;16964243;18006477;18029348;18342394;19466753;20360068;20379614;20395239;20467438;20801532;21963094;22016770;22286171;22892539;22939629;24324551 84665 F5GWA6;Q86TC9 ABBA01019556;ABBA01019557;AC016395;AC024258;AF328296;AK027343;AL512429;AL832002;AL832379;AL834247;AMYH02023249;AMYH02023250;BC142609;BC144333;BC144334;BQ009261;BX647637;BX647640;BX648564;CH471083;DW443964;NG_032118;NM_001256267;NM_001256268;NM_032578;NR_045662;NR_045663;XM_006718043;XM_006718044 AAI42610;AAI67818;AAK50625;BAB55048;CAD38923;CAD89906;CAD91155;CAL37991;CAL38603;EAW54267;EAW54268;NP_001243196;NP_001243197;NP_115967;Q86TC9;XP_006718106;XP_006718107 Hs.55205 1644004;1700894;1721453;5020948 G35510;G59578;RH104074;RH48646 CMD1DD;CMH22;MYOP;RCM4 145 kDa sarcomeric protein;OTTHUMP00000019694;OTTHUMP00000019695;sarcomeric protein myopalladin, 145 kDa (MYOP) APPROVED protein-coding ENSG00000138347 HGNC:23246 10536 608517;615248 REVIEWED 1315345 MYRF myelin regulatory factor ENCODES a protein that exhibits DNA binding (inferred); peptidase activity (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN central nervous system myelin maintenance (ortholog); central nervous system myelination (ortholog); oligodendrocyte development (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH capecitabine; cisplatin; cobalt dichloride 11 11 11 q12-q13.1 58855535 58891401 + 61520121 61555990 + 61752649 61788518 + 6480464 10231032;10828591;12384578;12477932;18854154;19596243;19913121;20628086;21139048;21829377;21906983;22956843;23966832;9615227 745 B4DHB2;O60428;Q9Y2G1 AB023171;ABBA01003205;ABBA01003206;AC004770;AF038536;AF086762;AK295013;AMYH02024883;AP002380;BC004938;BC020196;CH471076;CS300579;NM_001127392;NM_013279;XM_005274222;XM_005274223;XM_005274224;XM_005274225;XM_005274226;XM_005274227;XM_005274228;XM_005274229 AAB92668;AAC23395;AAF28400;AAI52732;AAI56715;BAA76798;BAG58073;CAK32243;EAW73963;EAW73964;EAW73965;EAW73966;EAW73967;EAW73968;NP_001120864;NP_037411;Q9Y2G1;XP_005274279;XP_005274280;XP_005274281;XP_005274282;XP_005274283;XP_005274284;XP_005274285;XP_005274286 Hs.473109 1672512;1772561;2116196;2149852 D11S2300E;RH36061;RH48140;RH78968 C11orf9;KIAA0954;MGC10781;MRF;Ndt80;pqn-47 OTTHUMP00000238145;OTTHUMP00000238146;myelin gene regulatory factor APPROVED protein-coding ENSG00000124920 HGNC:1181 12213 608329 VALIDATED 1351320 MYRIP myosin VIIA and Rab interacting protein ENCODES a protein that exhibits actin binding (inferred); protein kinase A binding (inferred); Rab GTPase binding (inferred); INVOLVED IN positive regulation of insulin secretion (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN dense core granule (ortholog); perinuclear region of cytoplasm (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 3 3 3 p22.1 39793218 40244467 + 39850405 40301812 + 39808914 40260321 + 1302768;1580863;6480464;8554872 11964381 12221080;12477932;12485990;12590134;14517322;15489334;17474147;17827149;17903308;18478159;19270261;20379614;20467438;20861866;21130836;21740491;22396429;23007406;8889548 25924 F8WFC5;Q8NFW9 AB083783;ABBA01024796;ABBA01024797;ABBA01024798;ABBA01024799;AC099331;AC099557;AC104163;AC104185;AC104188;AC110718;AC130439;AF396687;AK125334;AK126013;AK294714;AK310972;AK312412;AK316068;AL050090;AMYH02006590;AMYH02006591;AMYH02006592;BC092512;BC109311;BC109312;CF138044;CH471055;DN999201;NM_001284423;NM_001284424;NM_001284425;NM_001284426;NM_015460;NR_104316;XM_006713099 AAH92512;AAI09312;AAI09313;AAM43954;BAC15555;BAG54185;BAG54276;BAH11857;BAH14439;CAB43262;EAW64595;EAW64596;NP_001271352;NP_001271353;NP_001271354;NP_001271355;NP_056275;Q8NFW9;XP_006713162 Hs.594535 1677302;1709418;1711992;1716293;1717453;1725553;1754115;1760111;1763081;1775199;1779042;1850219;1855762;1858175;2117467;2142457;2148090;2154446;2166996 A002V02;A004V33;G16527;G16573;HSC05A092;RH118449;RH119175;RH121176;RH122230;RH80389;SHGC-107747;SHGC-132147;SHGC-13693;SHGC-146817;SHGC-30521;SHGC-81742;STS-F04062;WI-14688;WI-22530 DKFZp586F1018;FLJ44025;MGC130034;MGC130035;SLAC2-C;SLAC2C OTTHUMP00000162081;OTTHUMP00000209206;OTTHUMP00000209207;OTTHUMP00000209209;Slp homologue lacking C2 domains;exophilin-8;myosin-VIIa- and Rab-interacting protein;rab effector MyRIP;slp homolog lacking C2 domains c;synaptotagmin-like protein homologue lacking C2 domains-c;synaptotagmin-like protein lacking C2 domains C protein-coding ENSG00000170011 HGNC:19156 14796 611790 VALIDATED 1349072 MYT2 myelin transcription factor 2 10818241;7735128;9373037;9790734 8827 O15150;Q16301 AF006822;S76853 AAB34231;AAB62700;O15150;Q16301 Hs.123048 protein-coding HGNC:7624 1602839 MYSM1 Myb-like, SWIRM and MPN domains 1 ENCODES a protein that exhibits histone binding; metallopeptidase activity; protein complex binding; INVOLVED IN chromatin remodeling; monoubiquitinated histone H2A deubiquitination; positive regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; formaldehyde 1 1 1 p32.1 57409098 57449255 - 59120411 59165747 - 58654739 58700075 - 6480464;9479061;8554872 24647359 11572484;12477932;16710414;17428495;17707232;18669648;19471022;21139048;21310492;21693764;21890473;21906983;21963094;22053931;22505724;23000965;24288411;24778252;25015289 114803 Q5VVJ2 AB067502;ABBA01074658;ABBA01074659;AK126835;AK292919;AL035411;AL450024;AMYH02001097;AMYH02001098;BC037536;BX537912;BX648168;CR627323;CR749450;NM_001085487;XM_006710314;XR_246231 AAI67849;BAB67808;BAF85608;BAG54377;CAD97896;CAH10370;CAH18287;NP_001078956;Q5VVJ2;XP_006710377 Hs.744921 1674938;1695848;1753557;2154780 D1S2251;SHGC-107489;SHGC-78793;WI-14224 2A-DUB;2ADUB;DKFZp779J1554;DKFZp779J1721;KIAA1915;RP4-592A1.1 OTTHUMP00000011131;histone H2A deubiquitinase MYSM1;myb-like, SWIRM and MPN domain-containing protein 1 protein-coding ENSG00000162601 HGNC:29401 612176 PROVISIONAL 1603259 MYRFL myelin regulatory factor-like ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cadmium atom; cisplatin 12 12 12 q15 69883000 70016232 + 70274016 70352502 + 69855288 69958722 + 6480464;8554872 12477932;14702039;15489334;18951430 196446 F5GYH9;F8VVR8;H0YHI9;Q96LU7 ABBA01026531;ABBA01026532;ABBA01026533;AC025263;AC078922;AK057785;AMYH02026718;AMYH02026719;BC101820;BC143553;CH471054;KF455660;XM_006709961;XM_006709962;XM_006709963;XM_006719720;XM_006719721;XM_006719722;XM_006726543;XM_006726544;XM_006726545 AAI01821;AAI43554;BAB71571;EAW97243;Q96LU7;XP_006710024;XP_006710025;XP_006710026;XP_006719783;XP_006719784;XP_006719785;XP_006726606;XP_006726607;XP_006726608 Hs.253773 1335796;1338917;1715221;1733506;1751833;1752751;2142860 D12S1693;D12S1705;D12S8;RH119861;RH45527;SHGC-105776;SHGC-106548 C12orf15;C12orf28;FLJ25056;MGC126869;bcm1377 OTTHUMP00000241087;OTTHUMP00000241088;hypothetical protein LOC196446;myelin regulatory factor-like protein;uncharacterized protein C12orf28 APPROVED protein-coding ENSG00000166268 HGNC:26316 08047 MODEL 1605681 MZB1 marginal zone B and B1 cell-specific protein INVOLVED IN positive regulation of cell proliferation; integrin activation (ortholog); negative regulation of glucose import in response to insulin stimulus (ortholog); FOUND IN cytoplasm; extracellular region; endoplasmic reticulum chaperone complex (ortholog); INTERACTS WITH (-)-demecolcine; ethyl methanesulfonate; formaldehyde 5 5 5 q31.2 2447 4794 + 138723257 138725605 - 139387568 139389916 - 6480464 11042152;11350957;11972030;12477932;12792799;14702039;19805154;19805157;21093319;21688198;21900206;21906983;22573353;22613335;23189934;23434460;24014023 51237 B3KQ72;D6RII0;H0Y9L3;Q8WU39 AA837360;ABBA01068638;AC135457;AF151024;AF338109;AK057549;AK292706;AMYH02012318;BC009931;BC021275;BU601458;GQ477350;NM_016459 AAF36110;AAH09931;AAH21275;AAK84085;ABM83553;ABW03504;ACY74343;BAF85395;BAG51934;NP_057543;Q8WU39 Hs.409563 5015861;7185938 D10S16 FLJ32987;HSPC190;MEDA-7;MGC29506;pERp1 OTTHUMP00000223763;PACAP;caspase-2 binding protein;marginal zone B- and B1-cell-specific protein;mesenteric estrogen-dependent adipose 7;mesenteric oestrogen-dependent adipose gene- 7;plasma cell-induced ER protein 1;plasma cell-induced resident ER protein;plasma cell-induced resident endoplasmic reticulum protein;proapoptotic caspase adapter protein;proapoptotic caspase adaptor protein APPROVED protein-coding ENSG00000170476 HGNC:30125 17815 609447 VALIDATED 7378214 MYT1L-AS1 MYT1L antisense RNA 1 2 2 2 p25.3 2368194 2376070 + 2323004 2330880 + 2319232 2327108 + 14702039;16344560 730811 ABBA01013058;AC009232;AK057398;AK126008;AMYH02003183;DA066058;NR_024468 Hs.629472 ncrna ENSG00000225619 HGNC:49274 VALIDATED 9479263 MZF1-AS1 MZF1 antisense RNA 1 19 19 19 q13.43 56113771 56128903 + 59070553 59086164 + 58559186 58574797 + 12477932;16344560 100131691 ABBA01020758;ABBA01020759;AC016629;AC016630;AMYH02036539;BC024736;DA455603;HG511117;HG511118;HG511119;NR_027334 Hs.743767 ncrna ENSG00000267858 HGNC:51271 VALIDATED 8656015 MZT1P2 mitotic spindle organizing protein 1 pseudogene 2 7 7 138912362 138913406 + 139227616 139228660 + 101929581 ABBA01001186;AC009220;AMYH02016884 pseudo HGNC:50606 MODEL 2300357 MZT1 mitotic spindle organizing protein 1 INVOLVED IN gamma-tubulin complex localization; FOUND IN centrosome; gamma-tubulin ring complex; spindle; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; calcitriol 13 13 13 q22.1 54180988 54200426 - 73282495 73301938 - 72708357 72727800 - 6480464 12477932;20360068;20639865;21906983;21963094;22053931;22427335;22889921;23443559;24816145 440145 Q08AG7 ABBA01050335;AK025522;AL138695;AL356754;AMYH02028250;AMYH02028251;BC013405;BC047655;BC062361;BC080523;BC125183;NM_001071775 AAI25184;NP_001065243;Q08AG7 Hs.28465 1676800;1736328;2189857 32i18REV;D13S829E;RH98346 C13orf37;FLJ21869;MGC150539;MOZART1;RP11-11C5.2 OTTHUMP00000018497;mitotic-spindle organizing protein 1;mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1 APPROVED protein-coding ENSG00000204899 HGNC:33830 613448 VALIDATED 5509958 MYZAP myocardial zonula adherens protein This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014] 15 15 q21.3 57884102 57977562 + 57591904 57685364 + 6480464 12477932;14702039;15233991;18849881;20093627;20412299;21240187;21347282;21992629;22160502 100820829 P0CAP1 ABBA01038989;ABBA01038990;ABBA01038991;AC025271;AC090651;AK055535;AL833028;AL833142;AMYH02030521;AY207459;AY237639;BC101645;BC112148;FJ970029;KF456061;NM_001018100;NM_152451 AAI01646;AAI12149;AAP41548;AAP75897;ADA68358;BAB70944;NP_001018110;NP_689664;P0CAP1 Hs.437256 1739225;2143745 D15S870;SHGC-56823 DKFZp313C2240;DKFZp666H158;FLJ30973;GCOM1;Gup;Gup1;Gup2;MGC126694;MGC138353 GRINL1A complex locus upstream;GRINL1A upstream protein;MYOZAP;OTTHUMP00000163343;OTTHUMP00000163344;myocardial intercalated disc protein;myocardium-enriched ZO1-associated protein;myocardium-enriched Zo-associated protein;myocardium-enriched zonula adherens protein;myocardium-enriched zonula occludens-1-associated protein protein-coding ENSG00000263155 HGNC:43444 614071 REVIEWED 1603721 MZT2A mitotic spindle organizing protein 2A ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; gamma-tubulin ring complex (ortholog); spindle (ortholog); INTERACTS WITH cadmium atom; paracetamol; valproic acid 2 2 2 q21.1 125967515 125974405 - 132227298 132250312 - 131469724 131492719 - 6480464;8554872 12477932;19913121;20098747;20360068;20628086;20861304;21135143;21832049;23443559;23455922;24816145;8889548 653784 H7C202;Q6P582 ABBA01028233;AC073869;AMYH02004810;BC018206;BC063024;BC104650;BI599271;BM554057;BU682101;CH471058;NM_001085365;XM_005263741;XM_005263742 AAH18206;AAH63024;AAI04651;AAX93252;EAX11695;NP_001078834;Q6P582;XP_005263798;XP_005263799 Hs.655067 1684323;2156648;2162084 RH41853;RH98446;STS-AA010289 FAM128A;MOZART2A FLJ14346-like;OTTHUMP00000204187;family with sequence similarity 128, member A;mitotic-spindle organizing protein 2A;mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A APPROVED protein-coding ENSG00000173272 HGNC:33187 613449 VALIDATED 1318132 MZF1 myeloid zinc finger 1 ENCODES a protein that exhibits protein homodimerization activity; RNA polymerase II core promoter proximal region sequence-specific DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-templated; FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; calcitriol 19 19 19 q13.4 56116463 56127681 - 59073284 59085757 - 58561917 58573760 - 1580863;6480464 10777584;10974541;12477932;15453830;15528990;15541732;15576338;15670815;16297876;16950398;17081983;1719120;17851584;18029348;18472161;1860835;19196427;20145042;22094256;22242952;22464443;22559731;22846578;23241556;23509792;7579328 7593 M0R1U5;M0R2C0;P28698 AB209481;ABBA01020758;ABBA01020759;AC016629;AC016630;AF055077;AF055078;AF161886;AK308893;AK310381;AMYH02036539;BC007777;BC053316;BQ446552;BU620994;CH471135;M58297;NM_001267033;NM_003422;NM_198055;XM_005259203;XM_005259204;XM_006723358;XM_006723359;XM_006723360 AAA59898;AAD55809;AAD55810;AAF80465;AAF80466;AAH07777;AAH53316;BAD92718;EAW72614;EAW72615;EAW72616;EAW72617;EAW72618;NP_001253962;NP_003413;NP_932172;P28698;XP_005259260;XP_005259261;XP_006723421;XP_006723422;XP_006723423 Hs.399810 1675850;1765923;1768652;1775094;2164061 RH36557;RH71384;RH79819;SHGC-149330;STS-U46465 MZF-1;MZF1B;ZNF42;ZSCAN6;Zfp98 zinc finger and SCAN domain-containing protein 6;zinc finger protein 42 (myeloid-specific retinoic acid-responsive) protein-coding ENSG00000099326 HGNC:13108 01930 194550 VALIDATED 1605706 N4BP1 NEDD4 binding protein 1 INVOLVED IN cellular response to UV; negative regulation of proteasomal ubiquitin-dependent protein catabolic process (ortholog); negative regulation of protein ubiquitination (ortholog); FOUND IN nucleolus (ortholog); PML body (ortholog); INTERACTS WITH arsenous acid; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 16 16 16 q12.1 33082817 33154845 - 48572637 48644125 - 48538726 48610214 - 6480464 11717310;12477932;14702039;15231747;17114934;17592138;19074885;19285159;20233849;21139048;21145461;21890473;21903422;21906983;22094256;22491018;22505724;22863883;23000965;24133439;24141722;24250222;9734811 9683 I3L3R7;O75113 AB014515;ABBA01000907;ABBA01000908;ABBA01000909;AC023813;AC026470;AK001464;AK026937;AK056383;AK094234;AK124782;AL831882;AMYH02031988;AMYH02031989;BC051897;BC108288;BC152472;CH471092;NM_153029;XM_005256262;XM_006721351 AAI08289;AAI52473;AAI60019;BAA31590;BAG50916;EAW82729;NP_694574;O75113;XP_005256319;XP_006721414 Hs.511839 1663252;1677866;1679800;1685950;1686412;1693652;1737571;1797076;2111117;2117652;2126024;2181747;5127280 AU151351;D16S2664;D16S473E;RH65025;RH65099;RH66684;RH76414;RH93964;SHGC-58576;SHGC-60717;SHGC-60801;SHGC-61148;SHGC-61163 FLJ31821;KIAA0615;MGC176730 NEDD4-binding protein 1 protein-coding ENSG00000102921 HGNC:29850 08109;14800 VALIDATED 1603992 N4BP2 NEDD4 binding protein 2 This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. [provided by RefSeq, Jul 2008] 4 4 4 p14 40497305 40595932 + 40058524 40159872 + 40056826 40158252 + 6480464;8554872 10718198;11717310;12477932;12730195;14702039;17081983;17626640;17761849;18487259;18804481;20308539;20936779;21139048;21890473;21906983;22072629;22505724;23000965;23443559 55728 D6R9J2;D6RC09;H0YA93;Q86UW6 AB037834;AB371584;ABBA01004156;ABBA01004157;ABBA01004158;ABBA01004159;AC095057;AC098591;AK001542;AMYH02009066;AY267013;BC126466;CH471069;NM_018177;XM_006714021;XM_006714022;XM_006714023 AAI26467;AAP22172;BAA91748;BAA92651;BAG48313;EAW92957;EAW92958;EAW92959;NP_060647;Q86UW6;XP_006714084;XP_006714085;XP_006714086 Hs.391463 1663570;1690101;1696976;1735398;5037552 D4S2571E;D8S2279;RH101960;RH92697;SHGC-59632 B3BP;FLJ10680;KIAA1413 BCL-3 binding protein;BCL-3-binding protein;NEDD4-binding protein 2;OTTHUMP00000158757;OTTHUMP00000218538 APPROVED protein-coding ENSG00000078177 HGNC:29851 11382 REVIEWED 1603408 N4BP2L2 NEDD4 binding protein 2-like 2 ENCODES a protein that exhibits enzyme binding; RNA polymerase II transcription corepressor activity (ortholog); INVOLVED IN negative regulation of hematopoietic stem cell differentiation; positive regulation of hematopoietic stem cell proliferation; negative regulation of transcription from RNA polymerase II promoter (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; transcriptional repressor complex; INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; arsane 13 13 13 q13.1 14073721 14179731 - 33006625 33116839 - 32432488 32542702 - 6480464;8554872 12477932;14702039;19056867;19506020;19615732;21906983;23088713;23535729;24639526;8812419;8889548;8895530 10443 B4DPY1;D6R968;Q92802;Q9Y3H6 ABBA01010138;ABBA01010139;ABBA01010140;ABBA01010141;ABBA01010142;ABBA01010143;ABBA01010144;ABBA01010145;AF530063;AK093514;AK123084;AK298546;AK310280;AK312924;AL049783;AL049802;AL137247;AL353665;AMYH02027824;BC010643;BC131631;BG435390;BG621272;BT007172;CB217966;CB240991;CH471075;HY045074;NM_001278432;NM_014887;NM_033111;U50529;U50532;XM_005266218;XM_005266219;XM_005266220;XM_005266221;XM_005266222;XM_005266223;XM_005266224;XM_005266228;XM_006719754;XR_429211;Z36834;Z73359 AAC50875;AAH10643;AAI31632;AAP35836;AAQ09947;ABM92242;ABW03285;BAG60743;CAB42441;CAB42563;CAC94790;EAX08514;EAX08515;NP_001265361;NP_055702;NP_149102;Q92802;XP_005266275;XP_005266276;XP_005266277;XP_005266278;XP_005266279;XP_005266280;XP_005266281;XP_005266285;XP_006719817 Hs.507680 1644593;1653418;1655087;1663531;1677122;1684808;1699814;1700604;1730347;1754359;1850993;2142352;2153010;2162591;5015619;5037552;7184752 D11S3114;D13S178E;D13S211;D8S2279;RH103514;RH103924;RH11180;RH45688;RH48473;RH66523;SHGC-132379;SHGC-24356;SHGC-36554;SHGC-54221;SHGC-56893;STS-W80632;WI-22804 92M18.3;CG005;CG016;FLJ36195;FLJ41089;FLJ43077;PFAAP5 92M18.3 (novel protein);NEDD4-binding protein 2-like 2;OTTHUMP00000018230;OTTHUMP00000218569;OTTHUMP00000218570;OTTHUMP00000222004;phosphonoformate immuno-associated protein 5;protein from BCRA2 region protein-coding ENSG00000244754 HGNC:26916 15119 615788 VALIDATED 6902000 N4BP2L2-IT2 N4BPL2 intronic transcript 2 (non-protein coding) 13 13 13 q13.1 14145440 14150329 - 33078643 33083532 - 32504506 32509395 - 8812419 116828 ABBA01010143;AL353665;AMYH02027824;NR_026928;U50531 Hs.658751 CG030 ncrna HGNC:25038 VALIDATED 1605033 MZT2B mitotic spindle organizing protein 2B ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; gamma-tubulin ring complex; spindle; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; lead(0) 2 2 2 q21.1 124214286 124223087 + 130939248 130962365 + 130181928 130190727 + 6480464;8554872 12477932;14702039;17207965;19913121;20360068;20628086;21135143;21139048;21150319;21900206;23443559;23455922;24250222 80097 B8ZZ87;H7BZ50;H7C173;H7C293;Q6NZ67 ABBA01017944;ABBA01017945;ABBA01017946;AC018804;AK024408;AMYH02004774;BC014255;BC017694;BC066296;BG036944;BI546951;CH471263;NM_025029;XM_005263792;XM_005263795 AAH14255;AAH66296;AAY14884;ADQ32817;EAW55602;EAW55603;EAW55604;EAW55605;NP_079305;Q6NZ67;XP_005263849;XP_005263852 Hs.469925;Hs.516450 1684323;2162084;5015619;5022576;5022651;5023507;5037552 D11S2921;D11S3114;D1S1361;D8S2279;RH66232;RH98446;STS-AA010289 FAM128B;FLJ14346;MGC87017;MOZART2B OTTHUMP00000162393;OTTHUMP00000204374;family with sequence similarity 128, member B;mitotic-spindle organizing protein 2B;mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B APPROVED protein-coding ENSG00000152082 HGNC:25886 07857 613450 VALIDATED 731726 MYT1L myelin transcription factor 1-like ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); zinc ion binding (inferred); INVOLVED IN cell differentiation (inferred); nervous system development (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH 17beta-estradiol; arsenous acid; atrazine 2 2 2 p25.3 1839186 2380235 - 1792885 2335147 - 1789113 2331273 - 1580863;6480464;8554872 10470851;12168954;12477932;15489334;17043677;18839057;18940311;20379614;21048971;21441570;21923761;21990140;22157634;22547139;23061379;23918370;24015200;8889548;9373037 23040 H7BYU4;Q49A74;Q9UL68;R4GMY9 AB029029;AB073885;ABBA01012339;ABBA01012340;ABBA01013049;ABBA01013050;ABBA01013051;ABBA01013052;ABBA01013053;ABBA01013054;ABBA01013055;ABBA01013056;ABBA01013057;ABBA01013058;AC008276;AC009232;AC009471;AC011301;AC093390;AC106046;AF036943;AK299571;AK307797;AL133024;AMYH02003180;AMYH02003181;AMYH02003182;AMYH02003183;BC031690;BC042833;BC043230;BC071612;BC109113;BC137272;BC137273;BC150281;BF439754;BF530661;BM715930;NM_015025;XM_006711862;XM_006711863;XM_006711864;XM_006711865;XM_006711866;XM_006711867;XM_006711868 AAF14051;AAH43230;AAH71612;AAI37273;AAI37274;AAI50282;BAA83058;BAG61510;NP_055840;Q9UL68;XP_006711925;XP_006711926;XP_006711927;XP_006711928;XP_006711929;XP_006711930;XP_006711931 Hs.434418;Hs.669852 1341945;1673463;1687898;1704786;1711970;1755701;1762075;2132196;2132459;2134407;2135151;2140241;2141066;2174746;2219966;5014051;5015621;5022200;5037552;5109281;5112135;5493879;7186943 A004T13;A006X23;AFMB342WF1;CHLC.GATA82C07;D11S3732;D1S1425;D2S2004;D2S323;D8S2278;D8S2279;G31051;HSCZSD082;L18426;MYT1L__6203;Myt1l;RH118435;RH47408;SHGC-142539;SHGC-145986;SHGC-30098;SHGC-79860;a03504rbk NZF1;ZC2HC4B;myT1-L OTTHUMP00000199939;OTTHUMP00000225851;myelin transcription factor 1-like protein;neural zinc finger transcription factor 1 protein-coding ENSG00000186487 HGNC:7623 14797 613084 VALIDATED 1606676 N6AMT2 N-6 adenine-specific DNA methyltransferase 2 (putative) ENCODES a protein that exhibits methyltransferase activity (inferred); nucleic acid binding (inferred); INVOLVED IN methylation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 13 13 13 q12.11 2365009 2409998 - 21302036 21348095 - 20728931 20773956 - 6480464 12477932;14702039;17207965;18390568;24250222;24722188 221143 Q8WVE0 ABBA01068590;ABBA01068591;ABBA01068592;AK316604;AL512652;AMYH02027643;AMYH02027644;AMYH02027645;AMYH02027646;AX118941;BC018091;CH471075;DQ823637;NM_174928;XM_005266287 AAH18091;ABK41021;ADQ31719;BAG38191;CAC38544;EAX08277;EAX08278;EAX08279;EAX08280;NP_777588;Q8WVE0;XP_005266344 Hs.26674 1767190;1850666;1854729 RH78188;SHGC-57777;WI-12504 ESP13 N(6)-adenine-specific DNA methyltransferase 2;OTTHUMP00000018102;OTTHUMP00000018103 protein-coding ENSG00000150456 HGNC:27351 14135 PROVISIONAL 1604555 N4BP2L1 NEDD4 binding protein 2-like 1 INTERACTS WITH 5-aza-2'-deoxycytidine; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 13 13 13 q13.1 14041664 14069106 - 32974860 33002490 - 32400723 32428342 - 6480464 12477932;19692168;19773279;23535729;23535733;8812419 90634 H0Y2Y5;Q5TBK1;Q9UQP6;Q9Y273;U3KPU5;U3KQ14 ABBA01010137;ABBA01010138;AI783635;AI916535;AL049785;AL049786;AL049787;AL049788;AL137247;AMYH02027823;AMYH02027824;BC011650;BC022188;BC068049;BC125050;BF448179;BI551105;BX648509;CH471075;NM_001079691;NM_001286459;NM_001286460;NM_001286461;NM_052818;U50527;U57962;XM_006719890;Z73359 AAH22188;AAI25051;AAI72323;CAB42443;CAB42444;CAB42445;CAB42446;CAC94789;EAX08502;EAX08503;EAX08504;EAX08505;EAX08506;EAX08507;EAX08508;NP_001073159;NP_001273388;NP_001273389;NP_001273390;NP_438169;Q5TBK1;XP_006719953 Hs.732118 1663952;1730930;1772304;1774937;1793036;1857346;2106989;2113450;2142031;2179575;2181015;5015961;5037552 A005D41;A006U40;CG018__4561;D13S1460;D13S1790;D13S211;D13S857E;D15S1477;D8S2279;PMC19144P1;RH45996;RH79196;SHGC-53626 CG018 NEDD4-binding protein 2-like 1;OTTHUMP00000018226;OTTHUMP00000018227;OTTHUMP00000018229;hypothetical gene CG018 protein-coding ENSG00000139597 HGNC:25037 12384 VALIDATED 1349422 NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] X X X q28 153429094 153434185 - 153195280 153200607 - 153929827 153935154 - 1580863;6480464;7240710;8699517;8554872 11076863;11256614;11393533;12464182;12477932;12888564;15489334;15489336;15496142;15749829;15755738;15994306;16189514;16279846;16288748;16376303;16381901;16507339;16511565;16518407;16823041;16964243;17081983;17161380;17620599;18593917;18794801;18991565;19287988;19343046;19480662;19660095;19716809;19826488;19909012;19913121;19946888;20145209;20154145;20301694;20360068;20501853;20592467;20628086;20639454;21139048;21295525;21383206;21700266;21890473;21906983;21963094;21987572;22261620;22315407;22496479;22580278;22863883;22939629;23000965;23043182;23550278;23557624;23624078;24250222;24816145;7981673;8889548 8260 A8MWP7;B4DKJ7;B7Z9N2;C9JN83;C9JW55;F8W808;P41227 ABBA01045337;AK294081;AK296593;AK309083;AK315997;AMYH02040848;AY183134;AY183135;BC000308;BC019312;BC063377;BI192945;CA313208;CH471172;CR979270;NG_031987;NM_001256119;NM_001256120;NM_003491;U52112;X77588 AAH00308;AAH19312;AAH63377;BAG57422;BAG59209;BAH14368;CAA54691;CAL37430;CAL38702;EAW72773;EAW72774;EAW72775;EAW72776;NP_001243048;NP_001243049;NP_003482;P41227 Hs.433291 1806178;1807150;1809238;1809560;1809562;1835564;1840386;2034392;2034394;2034396;2034398;2034400;2034402;2034404;2034406;2034408;2034410;2034412;2034414;2034416;2034418;2034420;2034422;2034424;2034426;2034428;2034430;2034432;2034434;2034436;2034438;2034440;2034442;2034444;2034446;2034448;2034450;2102128;2102130;2102132 ECD04043;ECD04541;ECD05609;ECD05772;ECD05773;ECD18938;ECD21378;REN88205;REN88206;REN88207;REN88208;REN88209;REN88210;REN88211;REN88212;REN88213;REN88214;REN88215;REN88216;REN88217;REN88218;REN88219;REN88220;REN88221;REN88222;REN88223;REN88224;REN88225;REN88226;REN88227;REN88228;REN88229;REN88230;REN88231;REN88232;REN88233;REN88234;stSG603701;stSG603703;stSG603705 ARD1;ARD1A;ARD1P;DXS707;FLJ78896;MCOPS1;MGC71248;NATD;TE2 ARD1 homolog A, N-acetyltransferase;ARD1 homolog, N-acetyltransferase;N-acetyltransferase ARD1, human homolog of;N-alpha-acetyltransferase 10;N-alpha-acetyltransferase 10, NatA catalytic subunit;N-terminal acetyltransferase complex ARD1 subunit homolog A;OTTHUMP00000026001;OTTHUMP00000026002;OTTHUMP00000064808;OTTHUMP00000064809;OTTHUMP00000180622;OTTHUMP00000180623;ard1 homolog, n-acetyltransferase (s. cerevisiae);natA catalytic subunit;natA catalytic subunit Naa10 APPROVED protein-coding HGNC:18704 02056 300013;300855;309800 REVIEWED 1323512 N6AMT1 N-6 adenine-specific DNA methyltransferase 1 (putative) This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing pf this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jul 2014] 21 21 21 q21.3 15427774 15440965 - 30244513 30257695 - 28872191 28885373 - 6480464;8554872 10830953;12477932;14702039;18539146;20379614;21193388;23665909;24250222;8125298 29104 Q9Y5N5 AA825430;ABBA01057243;ABBA01057244;ABBA01057245;AF139682;AF227510;AK021678;AK092128;AK225515;AK314100;AL163248;AMYH02037685;AW136986;BC011554;BP317563;BQ021620;BU631971;CH471079;KC877845;KF457188;KF570251;NM_013240;NM_182749;NR_047510 AAD38520;AAH11554;BAG36794;CAB90428;EAX09939;EAX09940;EAX09941;NP_037372;NP_877426;Q9Y5N5 Hs.163846 1680022;1681969 RH80363;RH93987 C21orf127;FLJ11616;HEMK2;MGC19995;MTQ2;N6AMT;PRED28 N6-DNA-methyltransferase;OTTHUMP00000096393;OTTHUMP00000096394;OTTHUMP00000096395;chromosome 21 open reading frame 127;hemK methyltransferase family member 2;m.HsaHemK2P;n(6)-adenine-specific DNA methyltransferase 1 APPROVED protein-coding HGNC:16021 10739 614553 REVIEWED 1625645 NAA11 N(alpha)-acetyltransferase 11, NatA catalytic subunit ENCODES a protein that exhibits peptide alpha-N-acetyltransferase activity; INVOLVED IN N-terminal protein amino acid acetylation; FOUND IN NatA complex; INTERACTS WITH benzo[a]pyrene; cyclosporin A; 17alpha-ethynylestradiol (ortholog) 4 4 4 q21.21 77533945 77542850 - 80238272 80247171 - 79317118 79326017 - 6480464 12477932;16638120;18029348;19480662;19660095;20419844;21890473;21906983;21963094;21987572;22048246;22292636;23000965 84779 H0Y8T0;Q9BSU3 ABBA01063392;AC023277;AC108466;AMYH02009551;BC004552;BC063623;BC080651;CH471057;NM_032693 AAH04552;AAH63623;AAH80651;AAI60080;EAX05841;NP_116082;Q9BSU3 Hs.676048 1770630;1770632;2114904;2167681;2171362;2174748 G16768;G33896;SHGC-24440;SHGC-53329;SHGC-67721;STS-N40474 ARD1B;ARD2;MGC10646;hARD2 =N-terminal acetyltransferase complex ARD1 subunit homolog B;ARD1 homolog B;N-alpha-acetyltransferase 11;N-alpha-acetyltransferase 11, NatA catalytic subunit;N-terminal acetyltransferase complex ARD1 subunit homolog B;OTTHUMP00000219262;OTTHUMP00000219263;human arrest defective 2;natA catalytic subunit;natA catalytic subunit Naa11 APPROVED protein-coding HGNC:28125 VALIDATED 1343133 NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit This gene encodes a protein of unknown function. However, similarity to proteins in yeast and other species suggests that this protein may be an N-acetyltransferase. [provided by RefSeq, Jul 2008] 4 4 4 q31.1 137554846 137644102 + 140222621 140311935 + 139301467 139390781 + 6480464;8554872 11478804;11687548;12019451;12087473;12140756;12145306;12145309;12145312;12477932;14702039;15489334;15496142;15815621;16279846;16507339;16518308;16518407;16638120;17081983;18029348;19480662;19660095;19738201;19946888;20154145;20360068;20562859;21139048;21890473;21906983;21963094;22145905;22505724;22586326;22623428;22863883;22939629;23000965;23043182;23557624;24816145;25015289;25027693 80155 D6RAP7;Q58F05;Q9BXJ9 ABBA01069954;ABBA01069955;ABBA01069956;ABBA01069957;ABBA01069958;AC097376;AF327722;AJ314788;AK001595;AK023387;AK023402;AK304417;AK314626;AMYH02010197;AMYH02010198;AMYH02010199;AX391847;AX880502;AY039242;AY112670;BC032642;BC039818;BC093928;BC104806;CH471056;NM_057175;XM_005263236 AAH32642;AAH39818;AAH93928;AAI04807;AAK15707;AAK68661;AAM48746;AAY40950;BAB14562;BAG37192;BAG65248;CAC43228;CAD28977;CAE90974;EAX05118;EAX05119;EAX05120;NP_476516;Q9BXJ9;XP_005263293 Hs.745047 1707792;2106701;2119258;2124623;2152198;2191141;5017524 D4S2568E;D4S2830;MARC_15315-15316:1013436374:1;NARG1;SHGC-67742;SHGC-82119;TBDN100__5224 Ga19;NARG1;NAT1P;NATH;TBDN;TBDN100 N-alpha-acetyltransferase 15, NatA auxiliary subunit;N-terminal acetyltransferase;NMDA receptor regulated 1;NMDA receptor-regulated protein 1;OTTHUMP00000174300;OTTHUMP00000174301;gastric cancer antigen Ga19;transcriptional coactivator tubedown-100;tubedown-1 APPROVED protein-coding ENSG00000164134 HGNC:30782 10471 608000 VALIDATED 1312603 MYT1 myelin transcription factor 1 The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 59480507 59558438 + 62795827 62873606 + 64164474 64242253 + 1580863;6480464;8554872 10048485;10470851;10504341;11780052;12477932;12524179;12738781;1280325;14962745;15935060;17330875;18029348;18950845;19204086;22792062;23146904;7519254;8530187;9001210;9268380;9373037 4661 Q01538;Q6P6D5 AB020642;ABBA01018569;ABBA01018570;ABBA01018571;AL121581;AMYH02037485;AMYH02037486;BC018917;BC053638;BC062313;CH471077;M96980;NM_004535 AAA59897;AAH53638;AAH62313;BAA74858;EAW75155;EAW75157;EAW75158;NP_004526;Q01538 Hs.279562 1650962;1784368;2132380;5112361 RH104288;RH10656;SHGC-144519;Z94630 C20orf36;MTF1;MYTI;NZF2;PLPB1;ZC2HC4A OTTHUMP00000031644;myelin transcription factor I;neural zinc finger transcription factor 2;proteolipid protein binding protein;proteolipid protein-binding protein APPROVED protein-coding ENSG00000196132 HGNC:7622 02659 600379 REVIEWED 4145242 N4BP3 NEDD4 binding protein 3 FOUND IN cytoplasmic vesicle (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; amiodarone 5 5 5 q35.3 173167482 173180064 + 177540556 177553107 + 178113498 178126106 + 6480464 11717310;12477932;15324660;15489334;19615732;21963094;9205841 23138 O15049 AB002339;ABBA01009987;AC136632;AK127224;AK295663;AMYH02012859;BC027715;BC053323;CA487765;CH471165;NM_015111;XM_006714834 AAH53323;BAA20799;BAC86891;BAG58525;EAW53851;EAW53852;EAW53853;EAW53854;NP_055926;O15049;XP_006714897 Hs.101761 1690970;1740453;1763539;1765075 D5S2255E;RH93726;SHGC-147243;SHGC-148609 KIAA0341;LZTS4 NEDD4-binding protein 3;OTTHUMP00000223990 protein-coding ENSG00000145911 HGNC:29852 VALIDATED 1346528 NAA30 N(alpha)-acetyltransferase 30, NatC catalytic subunit ENCODES a protein that exhibits peptide alpha-N-acetyltransferase activity; INVOLVED IN metabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; NatC complex; polysome; INTERACTS WITH atrazine; benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q22.3 37907349 37929551 + 57857271 57879466 + 57390553 57412748 + 6480464;8554872 12477932;14702039;19398576;19660095;21139048 122830 B3KS28;B4DK34;G3V3I2;J3KNC2;Q147X3 ABBA01018240;AK024885;AK025749;AK092674;AK296372;AK304257;AK307348;AL355834;AMYH02029259;BC048983;BC118589;BC122557;BX648700;CH471061;NM_001011713 AAI18590;AAI22558;BAG52590;BAG59046;BAG65123;EAW80704;EAW80705;NP_001011713;Q147X3 Hs.165465 1673237;1736388;1775246;2138918;2138920;2164422 A006D22;D14S645E;G20721;G30954;G35536;WI-13591 C14orf35;FLJ35355;MAK3;MGC141884;MGC141885;Mak3p;NAT12;NAT12P N-acetyltransferase 12;N-acetyltransferase 12 (GCN5-related, putative);N-acetyltransferase MAK3 homolog;N-alpha-acetyltransferase 30;N-alpha-acetyltransferase 30, NatC catalytic subunit;OTTHUMP00000245793;OTTHUMP00000245794;OTTHUMP00000245796;chromosome 14 open reading frame 35;natC catalytic subunit;putative N-acetyltransferase APPROVED protein-coding HGNC:19844 16619 VALIDATED 1347911 NAA35 N(alpha)-acetyltransferase 35, NatC auxiliary subunit INVOLVED IN negative regulation of apoptotic process; smooth muscle cell proliferation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; NatC complex; polysome; INTERACTS WITH cyclosporin A; hydrogen peroxide; methyl methanesulfonate 9 9 9 q21.33 59127997 59209159 + 88556009 88638350 + 85941142 86023435 + 6480464;8554872 10855038;12477932;14702039;16344560;18029348;19398576;19660095;21139048;22118674;24243830;24816145;8125298;8889548 60560 B1AM43;Q5VZE5 ABBA01034047;AK025266;AK026296;AK056059;AK225237;AK292239;AL161447;AL161453;AL353743;AMYH02021147;AMYH02021148;BC117427;BC117429;CA945233;CH471089;DB023442;NM_024635;XM_005252126;XM_005252127;XM_005252128;XM_006717231 AAI17428;AAI17430;BAB15097;BAB15435;BAF84928;BAG51612;EAW62702;EAW62703;EAW62704;NP_078911;Q5VZE5;XP_005252183;XP_005252184;XP_005252185;XP_006717294 Hs.436098 1727577;1739367 D9S1649E;G63197 EGAP;FLJ21613;FLJ22643;MAK10;MAK10P;RP11-379P1.1;bA379P1.1 MAK10 homolog, amino-acid N-acetyltransferase subunit;N-alpha-acetyltransferase 35, NatC auxiliary subunit;OTTHUMP00000021584;corneal wound healing-related protein;embryonic growth-associated protein homolog;protein MAK10 homolog APPROVED protein-coding ENSG00000135040 HGNC:24340 11291 VALIDATED 1603947 NAA38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit INVOLVED IN negative regulation of apoptotic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; NatC complex; nucleus; INTERACTS WITH 17beta-estradiol; acetylsalicylic acid; benzo[a]pyrene diol epoxide I 17 17 17 p13.1 7787824 7788993 - 7760003 7788608 - 7856685 7858071 - 6480464;8554872 12477932;16484612;19398576;21890473;21906983;21963094;22505724 84316 I3L3Z2;I3L4V0;Q9BRA0 ABBA01054889;AC104581;AF530060;AMYH02032916;BC006407;BC033861;BC051846;BC059944;CH471108;NM_032356;XM_005256822;XM_005256823 AAH06407;AAH33861;AAH51846;AAH59944;AAQ09944;ABM84216;ABM84245;ABM87633;EAW90123;NP_115732;Q9BRA0;XP_005256879;XP_005256880 Hs.565094 1654618;1661100;1686796;1690610;2191317;5015619;5020414;5022651;5109281 A004D12;D11S2921;D11S3114;D1S1425;D7S2757;L17688;MARC_17348-17349:1021492261:7;RH98358;RH99082 LSMD1;MGC14151;MGC74837;PFAAP2 LSM domain containing 1;LSM domain-containing protein 1;N-alpha-acetyltransferase 38, NatC auxiliary subunit;phosphonoformate immuno-associated protein 2;regulated by phosphonoformate APPROVED protein-coding ENSG00000183011 HGNC:28212 17491 PROVISIONAL 1606244 NAA16 N(alpha)-acetyltransferase 16, NatA auxiliary subunit ENCODES a protein that exhibits peptide alpha-N-acetyltransferase activity; ribosome binding; acetyltransferase activity (ortholog); INVOLVED IN N-terminal protein amino acid acetylation; negative regulation of apoptotic process; protein stabilization; FOUND IN cytoplasm; extracellular vesicular exosome; NatA complex; INTERACTS WITH amiodarone; benzo[a]pyrene diol epoxide I; crocidolite asbestos 13 13 13 q14.11 22943061 23008776 + 41885341 41951166 + 41311205 41377030 + 6480464 11483580;12477932;14702039;15057823;15489334;15761153;16344560;17207965;18029348;18239623;19056867;19480662;19660095;20360068;21139048;21890473;21906983;22939629;24250222;24816145 79612 A4FU51;Q6N069 ABBA01021272;AK025707;AK097224;AK291248;AL354696;AL590665;AL731858;AL833341;AMYH02027918;AMYH02027919;BC017099;BC028112;BC032318;BC064592;BC101719;BC101721;BC143506;BE501152;BX640665;CH471075;DB078940;NM_001110798;NM_018527;NM_024561;XM_005266522;XM_005266523;XM_006719866;XR_245394;XR_429219 AAH17099;AAH28112;AAH32318;AAH64592;AAI01720;AAI01722;ADQ32355;BAB15222;BAF83937;CAE45801;EAX08654;EAX08655;EAX08656;EAX08657;EAX08658;EAX08659;EAX08660;NP_001104268;NP_060997;NP_078837;Q6N069;XP_005266579;XP_005266580;XP_006719929 Hs.512914 1671554;1671556;1671558;1742069;2143110 GDB:190835;SHGC-16596;SHGC-57982;STS-F10018;WI-20660 DKFZp686O08147;MGC40612;NARG1L;RP11-396A22.1 N-alpha-acetyltransferase 16, NatA auxiliary subunit;NARG1-like protein;NMDA receptor regulated 1-like;NMDA receptor-regulated 1-like protein;OTTHUMP00000018318;OTTHUMP00000018320;OTTHUMP00000198977 APPROVED protein-coding ENSG00000172766 HGNC:26164 07977 VALIDATED 1605042 NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010] 12 12 12 q24.13 112089963 112172115 - 112464493 112546826 - 112026689 112109022 - 6480464;8554872 12477932;14702039;17353931;17554260;17554300;18570629;18978792;19322201;19565500;19660095;20089178;20203524;20549515;20962850;21139048;21437268;21832049;21890473;21906983;21963094;22493691;22814378;22939629;24250222;24262325;24816145 80018 F8VSB9;F8W0N5;H0YHR9;Q14CX7 AA653507;AB054990;ABBA01019917;ABBA01019918;ABBA01019919;AC073575;AK023151;AK292485;AK307494;AK309772;AL832394;AMYH02027214;AMYH02027215;AV760516;BC034357;BC047640;BC065481;BC095484;BC113585;BC113587;BX641140;BX647450;BX647992;CH471054;NG_017071;NM_024953;XM_005253938;XM_006719606;XR_243023 AAH34357;AAI13586;AAI13588;BAB14432;BAC80174;BAF85174;CAE46062;EAW97993;EAW97994;NP_079229;Q14CX7;XP_005253995;XP_006719669 Hs.530941 1690758;1695492;2170263;2172502 RH79958;SHGC-68645;WI-12421;WI-13464 C12orf30;DKFZp667K2112;FLJ13089;MDM20;NAP1 N-alpha-acetyltransferase 25, NatB auxiliary subunit;N-terminal acetyltransferase B complex subunit NAA25;OTTHUMP00000241755;mitochondrial distribution and morphology 20;natB complex subunit MDM20 APPROVED protein-coding ENSG00000111300 HGNC:25783 08578 612755 REVIEWED 1317063 NAA20 N(alpha)-acetyltransferase 20, NatB catalytic subunit NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009] 20 20 20 p11.23 20071956 20088286 + 19997934 20014273 + 20017290 20033629 + 6480464 10748148;11076863;11230166;11256614;11780052;12477932;15489334;15489336;16381901;18570629;19660095;19716809;21139048;21890473;21906983;21963094;21988832;22797925;22814378;22939629;24816145;8889548 51126 A8MZB2;P61599 ABBA01054080;AF085355;AK311819;AL035454;AL049538;AL136641;AMYH02036800;AMYH02036801;BC005181;BC008446;BG548527;BU680824;BX338359;CA867744;CA952537;CB959658;CH471133;NM_016100;NM_181527;NM_181528 AAD40190;AAH05181;AAH08446;ABM83445;ABM86628;ABM86657;BAG34761;CAB66576;CAL38347;CAL38437;EAX10213;EAX10214;EAX10215;NP_057184;NP_852668;NP_852669;P61599 Hs.368783;Hs.708298 1655356;1693398;1852819;5024761 AL034511;RH36905;SHGC-34171;SHGC-35956 NAT3;NAT3P;NAT5;NAT5P;dJ1002M8.1 N-acetyltransferase 3 homolog;N-acetyltransferase 5;N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae);N-acetyltransferase 5 (GCN5-related, putative);N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog);N-alpha-acetyltransferase 20;N-alpha-acetyltransferase 20, NatB catalytic subunit;N-terminal acetyltransferase B complex catalytic subunit NAA20;N-terminal acetyltransferase B complex catalytic subunit NAT5;N-terminal acetyltransferase complex ARD1 subunit;OTTHUMP00000030374;OTTHUMP00000205164;OTTHUMP00000205165;dJ1002M8.1 (N-terminal acetyltransferase complex ard1 subunit);dJ1175I6.2 (N-terminal acetyltransferase complex ard1 subunit);methionine N-acetyltransferase;natB catalytic subunit;natB complex subunit NAT5 APPROVED protein-coding ENSG00000173418 HGNC:15908 07136 610833 VALIDATED 1605347 NAA60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ENCODES a protein that exhibits H4 histone acetyltransferase activity; peptide alpha-N-acetyltransferase activity; INVOLVED IN cell proliferation; histone H4 acetylation; N-terminal peptidyl-methionine acetylation; FOUND IN Golgi membrane; INTERACTS WITH cyclosporin A; methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 3700439 3743751 + 3493611 3536963 + 3443649 3486963 + 6480464 12477932;12975309;14702039;16344560;17207965;21750686;21981917;24057671;8125298 79903 I3L115;I3L153;I3L1B9;I3L1L7;I3L1T4;I3L1X5;I3L205;I3L2B4;I3L2K7;I3L2M6;I3L4Q3;I3L4Q5;I3L4T5;Q9H7X0 ABBA01026740;AC004224;AC025283;AK021755;AK024216;AK092005;AK095819;AK130792;AK225178;AK297219;AK298566;AK302361;AK311524;AL833594;AMYH02031290;AX883690;AY358543;BC011267;BG472911;BU501490;CH471112;CR457324;DA736660;DA786716;NM_001083600;NM_001083601;NM_024845;XM_006720949;XM_006720950;XM_006720951;XM_006720952 AAH11267;AAQ88907;ADQ31609;BAB14853;BAG52462;BAG59702;BAG60760;BAG63686;CAE92069;CAG33605;EAW85358;EAW85359;EAW85360;EAW85361;EAW85362;EAW85363;EAW85364;NP_001077069;NP_001077070;NP_079121;Q9H7X0;XP_006721012;XP_006721013;XP_006721014;XP_006721015 Hs.513296 FLJ11693;FLJ14154;HAT4;NAT15 N-acetyltransferase 15;N-acetyltransferase 15 (GCN5-related, putative);N-alpha-acetyltransferase 60;OTTHUMP00000196830;histone acetyltransferase type B protein 4;natF catalytic subunit APPROVED protein-coding ENSG00000122390 HGNC:25875 07852 614246 VALIDATED 1602685 NAA40 N(alpha)-acetyltransferase 40, NatD catalytic subunit ENCODES a protein that exhibits N-acetyltransferase activity (inferred); INVOLVED IN lipid metabolic process (inferred); INTERACTS WITH cobalt dichloride; copper atom; copper(0) 11 11 11 q13.1 61033211 61051232 + 63706442 63724799 + 63938970 63957327 + 6480464 12477932;14702039;15203218;16344560;17207965;19660095;19695338;21139048;21935442;22939629;24248912;24250222;24457600;24654937;24816145 79829 F5GXF6;F5GY41;F5H2C9;Q86UY6 ABBA01003280;ABBA01003281;ABBA01003282;AK023910;AK299041;AK300451;AK303557;AMYH02024924;AP003780;BC024160;BC041617;BC052298;BX647309;CD632281;CH471076;DA649381;DC307984;HY009487;JF263566;NM_001300800;NM_024771;XM_005274295;XM_005274296;XM_006718689 AAH41617;AAH52298;ADQ32193;ADZ48533;BAB14720;BAG61115;BAG62172;BAG64581;CAI46006;EAW74183;EAW74184;EAW74185;NP_001287729;NP_079047;Q86UY6;XP_005274352;XP_005274353;XP_006718752 Hs.523753 1764123;2174929;5024756;5037552;5093940 A009Z16;D8S2279;G33013;RH80030;SHGC-147773 FLJ13848;NAT11;PATT1 N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog;N-acetyltransferase 11 (GCN5-related, putative);N-alpha acetyl transferase 40;N-alpha-acetyltransferase 40;N-alpha-acetyltransferase 40, NatD catalytic subunit;OTTHUMP00000236852;OTTHUMP00000236855;natD catalytic subunit APPROVED protein-coding ENSG00000110583 HGNC:25845 07838 VALIDATED 6481079 NAALADL2-AS1 NAALADL2 antisense RNA 1 q26.31 100874245 AA905673;AC104150;BF979372;NR_046714 Hs.614827 APPROVED ncrna HGNC:41016 VALIDATED 6481077 NAALADL2-AS2 NAALADL2 antisense RNA 2 q26.31 100874244 AC119732;AC135037;BQ049755;KF510841;NR_046713 Hs.581176 APPROVED ncrna HGNC:41015 VALIDATED 1316359 NAAA N-acylethanolamine acid amidase This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 74132297 74162693 - 76831808 76862166 - 75910655 75941013 - 1580863;6480464;8554872 10610717;12477932;1446826;15489334;15610181;15655246;16341674;17980170;18020949;18806270;19014633;21832049;22040171;22268729;8889548 27163 B4DVL2;D6R9S9;H0Y988;Q02083;R4GNC0 AB161353;ABBA01063351;ABBA01063352;ABBA01063353;AC110615;AK024677;AK301132;AK309271;AMYH02009500;AMYH02009501;AV723847;BC006388;BC011854;BM682921;BM763257;CH471057;DR156596;M92449;NM_001042402;NM_014435;W47597;XM_005262920;XM_005262921;XM_005262923;XM_005262924;XM_005262925;XM_006714178;XM_006714179;XM_006714180;XM_006714181;XR_427542 AAA60119;AAH06388;BAD88528;BAG62724;EAX05756;EAX05757;EAX05758;EAX05759;EAX05760;NP_001035861;NP_055250;Q02083;XP_005262977;XP_005262978;XP_005262980;XP_005262981;XP_005262982;XP_006714241;XP_006714242;XP_006714243;XP_006714244 Hs.437365 1679393;2134077;2180894;5037552 D8S2279;RH99042;WI-11412;WI-11632 PLT ASAH-like protein;ASAHL;N-acylethanolamine-hydrolyzing acid amidase;N-acylsphingosine amidohydrolase (acid ceramidase)-like;N-acylsphingosine amidohydrolase-like;OTTHUMP00000219231;OTTHUMP00000219430;OTTHUMP00000221103;acid ceramidase-like protein APPROVED protein-coding ENSG00000138744 HGNC:736 12122 607469 REVIEWED 1322131 NAA50 N(alpha)-acetyltransferase 50, NatE catalytic subunit ENCODES a protein that exhibits H4 histone acetyltransferase activity; peptide alpha-N-acetyltransferase activity; peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor; INVOLVED IN histone H4 acetylation; mitotic sister chromatid cohesion, centromeric; FOUND IN cytoplasm; extracellular vesicular exosome; NatA complex; INTERACTS WITH (-)-demecolcine; copper(2+) sulfate; coumestrol 3 3 3 q13.2 111846332 111873586 - 113435307 113465120 - 113716460 113746273 - 737633;1580863;6480464 12477932 14702039;16341674;16507339;17502424;19056867;19398576;19660095;19744929;20360068;20639865;20972266;21139048;21890473;21900231;21906983;21963094;22053931;22311970;22505724;23000965;23535732;23557624;24250222;24816145 80218 B0AZT5;C9J5D1;C9J5J3;C9JZU6;E7EQ69;F8WCK0;Q9GZZ1 ABBA01061650;AC108693;AK022540;AK023090;AK023256;AK296456;AK307184;AK315876;AMYH02007453;BC012731;BM831426;CH471052;CR749314;H16725;NM_025146;XM_005247794 AAH12731;ABM84090;ABM87460;BAB14397;BAB14490;BAF98767;BAG59104;CAH18169;EAW79629;EAW79630;EAW79631;NP_079422;Q9GZZ1;XP_005247851 Hs.372378 1649875;1679938;1697620;1735952;1769289;1772999;1778993;2156688;2160532;5094070;5096062 D3S2891E;D3S4251;DXS6978E;G34955;RH102322;RH35991;RH67016;SHGC-77212;STS-N20593;WI-14701;WI-18032 FLJ13194;MAK3;NAT13;NAT13P;NAT5;NAT5P;SAN;hNAT5;hSAN Mak3 homolog;N-acetyltransferase 13;N-acetyltransferase 13 (GCN5-related);N-acetyltransferase 5;N-acetyltransferase san homolog;N-alpha-acetyltransferase 50;N-alpha-acetyltransferase 50, NatE catalytic subunit;OTTHUMP00000214738;OTTHUMP00000214741;OTTHUMP00000214742;mak3 homolog (s. cerevisiae);natE catalytic subunit;separation anxiety APPROVED protein-coding ENSG00000121579 HGNC:29533 14350 610834 VALIDATED 5688427 NAALADL2-AS3 NAALADL2 antisense RNA 3 ASSOCIATED WITH Melanoma (inferred) 3 3 q26.3 174797102 174833032 - 175079312 175115242 - 8554872 100862679 ABBA01058614;AC112510;AMYH02008180;NR_046390 Hs.148810 APPROVED ncrna ENSG00000230292 HGNC:41014 VALIDATED 1323313 NAB2 NGFI-A binding protein 2 (EGR1 binding protein 2) This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 57136605 57143187 + 57482677 57489259 + 57088894 57095476 + 1580863;6480464;8554872 11135623;11567222;12030330;12427750;12477932;15489334;16260776;16344560;16574654;17081983;19423540;19460752;19471022;19888474;19913121;20237496;20406964;20438785;20506119;20628086;21693764;21836637;22075330;22431919;22939629;23313952;23313954;23416169;23575898;23761323;23817571;23834954;24722188;8649813;8668170;9126479;9722618;9774344 4665 Q15742 ABBA01008449;ABBA01008450;AC023237;AF268380;AJ011081;AK314229;AMYH02026578;BC007756;BC065931;CH471054;DA496543;NM_005967;U48361;U66574;X70991;XM_005268894 AAC50589;AAF72545;AAH65931;BAG36900;CAA09472;CAA50318;EAW96987;EAW96988;EAW96989;NP_005958;Q15742;XP_005268951 Hs.159223 1665499;1712134;1792328;1797896;2125246;2153520;5093412 A009O16;G32703;G54117;NAB2_2330;PMC140827P3;STS-X70991;WI-19169 MGC75085 EGR-1-binding protein 2;EGR1 binding protein 2;MADER;NGFI-A-binding protein 2;OTTHUMP00000245389;OTTHUMP00000245390;melanoma-associated delayed early response protein APPROVED protein-coding ENSG00000166886 HGNC:7627 03854 602381 REVIEWED 736700 NAB1 NGFI-A binding protein 1 (EGR1 binding protein 1) ENCODES a protein that exhibits transcription factor binding (inferred); INVOLVED IN endochondral ossification (inferred); myelination (inferred); negative regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; 2-methylcholine; benzene 2 2 2 q32.3-q33 185108599 185152244 + 191513621 191557492 + 190648895 190692766 + 729281;1580863;6480464;8554872 7624335 11018254;11687510;12030330;12477932;15146197;15489334;15815621;16574654;17081983;17853270;18029348;19322201;19471022;20211142;20379614;21239760;21252943;21399635;21693764;23935197;8668170;8889548;9418898 4664 B4DKG1;B8ZZS2;C9J3V0;C9JFF6;C9JID4;C9JJ42;C9JL92;H0Y4C5;Q13506 ABBA01062388;AC006460;AF045451;AF045452;AF052744;AK292446;AK296549;AK313542;AMYH02005438;AMYH02005439;BC035724;CF137213;CH471058;CN288145;NM_005966;U47007;XM_005246579;XM_005246580;XM_005246581;XM_005246582;XM_005246583;XM_005246584;XM_005246585;XM_005246586;XM_005246587;XM_006712540 AAC25085;AAC25086;AAC28325;AAC50588;AAH35724;AAX93076;ABM82118;ABW03366;BAF85135;BAG59173;EAX10862;EAX10863;EAX10864;EAX10865;NP_005957;Q13506;XP_005246636;XP_005246637;XP_005246638;XP_005246639;XP_005246640;XP_005246641;XP_005246642;XP_005246643;XP_005246644;XP_006712603 Hs.107474 1656937;1668570;1757575;1775353;1792326;2140021;2169373;2190973 HSC1FG122;MARC_12193-12194:1004713732:1;PMC140827P2;RH18507;RH68295;SHGC-145034;WI-14700;WI-14899 EGR-1-binding protein 1;EGR1 binding protein 1;NGFI-A-binding protein 1;OTTHUMP00000163542;OTTHUMP00000205859;OTTHUMP00000205860;OTTHUMP00000205866;transcriptional regulatory protein p54 protein-coding ENSG00000138386 HGNC:7626 02881 600800 VALIDATED 1603967 NABP1 nucleic acid binding protein 1 Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2A, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008] 2 2 2 q32.3 186137910 186148360 + 192542798 192553248 + 191678072 191688522 + 6480464 12477932;14702039;16344560;17207965;18449195;19322201;19605351;19683501;20133760;21139048;23266556;24816145 64859 F8WAF5;H7C0W4;Q96AH0 ABBA01062398;AC114778;AK023686;AK026486;AL832659;AL833684;AMYH02005449;BC017114;BC107723;BI553898;CA307622;CH471058;DA026631;DB477793;NM_001031716;NM_001254736;NR_045622;NR_045623 AAH17114;AAI07724;AAY24348;ADQ32447;BAB15491;CAH56209;EAX10835;EAX10836;EAX10837;EAX10838;NP_001026886;NP_001241665;Q96AH0 Hs.591610 DKFZp667M1322;FLJ13624;FLJ22833;MGC111163;OBFC2A;SOSS-B2;SSB2;hSSB2 OTTHUMP00000163594;OTTHUMP00000205480;OTTHUMP00000206044;OTTHUMP00000206045;SOSS complex subunit B2;nucleic acid-binding protein 1;oligonucleotide/oligosaccharide-binding fold containing 2A;oligonucleotide/oligosaccharide-binding fold-containing protein 2A;sensor of single-strand DNA complex subunit B2;sensor of ssDNA subunit B2;single-stranded DNA-binding protein 2 APPROVED protein-coding HGNC:26232 08009 612103 VALIDATED 732561 NAALADL1 N-acetylated alpha-linked acidic dipeptidase-like 1 ENCODES a protein that exhibits carboxypeptidase activity (inferred); dipeptidase activity (inferred); metal ion binding (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog) 11 11 11 q12 62138226 62152309 - 64812295 64826009 - 65044823 65058537 - 1580863;6480464;8554872 10085079;12477932;8889548;9388249 10004 C9JFW8;C9JX16;E9PII9;E9PIU1;E9PJQ1;E9PKG8;E9PKR0;E9PKW7;E9PLR8;E9PRC7;H0YDS5;H0YEI8;Q9UQQ1 ABBA01024136;ABBA01024137;AF010141;AJ012371;AK309536;AK311090;AMYH02024951;AP003068;BC143643;BC143644;BG757994;BM681269;CH471076;NM_005468 AAB87645;AAI40322;CAB39968;EAW74340;NP_005459;Q9UQQ1 Hs.13967 1655624;1737115 D11S2907;RH11696 I100 100 kDa ileum brush border membrane protein;N-acetylated-alpha-linked acidic dipeptidase-like protein;NAALADASEL;NAALADase L;OTTHUMP00000230362;OTTHUMP00000230364;OTTHUMP00000230365;OTTHUMP00000230366;ileal dipeptidylpeptidase;ileal peptidase I100;n-acetylated alpha-linked acidic dipeptidase-like (ileal peptidase i100) protein-coding ENSG00000168060 HGNC:23536 07212 602640 VALIDATED 1606935 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog) 3 3 3 q26.31 172978213 173925324 + 174577095 175523428 + 174440995 175805640 + 6480464;8554872 12477932;15168106;19132087;20379614;21145461;21408207;21832049;23251661;23319000;23456168;23509962;23728906;24322204 254827 C9JQ86;Q58DX5;Q6H9J7 ABBA01058608;ABBA01058609;ABBA01058610;ABBA01058611;ABBA01058612;ABBA01058613;ABBA01058614;ABBA01058615;ABBA01058616;AC008180;AC063953;AC069218;AC069418;AC069427;AC078803;AC083804;AC104150;AC112510;AC117431;AC119040;AC119732;AC119744;AC135037;AJ607395;AJ607396;AJ607397;AJ607398;AJ607399;AJ607400;AJ607401;AK131044;AK308416;AL832144;AL832931;AMYH02008175;AMYH02008176;AMYH02008177;AMYH02008178;AMYH02008179;AMYH02008180;AMYH02008181;AMYH02008182;AMYH02008183;AMYH02008184;AMYH02008185;BC057243;BN000432;KF510841;KF510842;NM_207015;XM_005247264;XM_006713560 AAH57243;AAI56166;AAI56974;CAE54973;CAE54974;CAE54975;CAE75743;CAH56310;NP_996898;Q58DX5;XP_005247321;XP_006713623 Hs.565848;Hs.603646;Hs.660010 1338484;1652629;1672673;1700356;1704724;1704748;1719729;1720125;1726375;1727765;1750289;1754941;1756067;1778810;1784666;1851653;2124904;2174556 AFMB331XF5;D3S2421;G09876;G62488;G63148;RH103798;RH123554;RH123805;RH47977;SHGC-112616;SHGC-141861;SHGC-142870;SHGC-144026;SHGC-53409;SHGC-77555;SHGC-77557;SHGC-79642;SHGC-79655 N-acetylated alpha-linked acidic dipeptidase 2;NAALADase L2;OTTHUMP00000211440;glutamate carboxypeptidase II-type non-peptidase homologue;inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 protein-coding ENSG00000177694 HGNC:23219 16388 608806 VALIDATED 1601970 NABP2 nucleic acid binding protein 2 Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008] 12 12 12 q13.3 56271047 56276531 + 56615813 56623638 + 56222032 56229854 + 6480464 12477932;17207965;18029348;18449195;19605351;19683501;19786574;20133760;21150319;22939629;23178594;23184057;24104880;24753408;24816145 79035 C9JMP5;C9JT95;Q9BQ15 ABBA01008412;AC073896;AI038029;AMYH02026562;AMYH02026563;AY203942;BC001079;BC006171;BG697807;CH471054;NM_024068;XM_005269146;XM_005269147;XM_005269148;XM_005269149 AAH01079;AAH06171;AAP34465;ADQ32470;EAW96912;EAW96913;EAW96914;EAW96915;NP_076973;Q9BQ15;XP_005269203;XP_005269204;XP_005269205;XP_005269206 Hs.240170 5015961 D15S1477 LP3587;MGC2731;OBFC2B;SOSS-B1;SSB1;hSSB1 OTTHUMP00000201882;OTTHUMP00000201883;OTTHUMP00000201884;OTTHUMP00000201885;OTTHUMP00000201886;SOSS complex subunit B1;nucleic acid-binding protein 2;oligonucleotide/oligosaccharide-binding fold containing 2B;oligonucleotide/oligosaccharide-binding fold-containing protein 2B;sensor of single-strand DNA complex subunit B1;sensor of ssDNA subunit B1;single strand DNA-binding protein 1;single-stranded DNA-binding protein 1 APPROVED protein-coding ENSG00000139579 HGNC:28412 14522 612104 VALIDATED 1625101 NACA3P NACA family member 3 pseudogene 4 4 4 q32.3 163196424 163197221 + 165864395 165865192 + 164943243 164944040 + 9847074 389240 ABBA01070287;AC106872;AMYH02010434;NG_005843 NACA3 pseudo HGNC:33442 INFERRED 1605228 NACA2 nascent polypeptide-associated complex alpha subunit 2 ENCODES a protein that exhibits TBP-class protein binding (inferred); transcription coactivator activity (inferred); INVOLVED IN myoblast migration (inferred); protein transport (inferred); regulation of RNA biosynthetic process (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); Aroclor 1254 (ortholog); benzo[a]pyrene (ortholog) 17 17 17 q23.2 58768819 58769588 - 59667794 59668563 - 61590433 61591202 - 6480464 10982809;12406326;12477932;15489334;16201836;17207965;18391951;18854154;20214399;20546612;21110914;21319273;21906983;22939629;23657466;23989986;7622554 342538 Q9H009 ABBA01035382;AC002994;AJ278883;AMYH02033744;BC062710;DQ120612;NM_199290 AAH62710;ABB92399;ADQ32052;CAC06614;NP_954984;Q9H009 Hs.591178 1858138;2111514;5109717 D11S4466;D12S1140E;RH47186 ANAC;MGC71999 IgE autoantigen alpha-nascent polypeptide-associated complex;NAC-alpha-like;NACAL;OTTHUMP00000225021;alpha-NAC protein;alpha-NAC-like;hom s 2.01 protein;nascent polypeptide-associated complex subunit alpha-2;nascent polypeptide-associated complex subunit alpha-like;nascent polypeptide-associated complex, alpha polypeptide, 2;nascent-polypeptide-associated complex alpha polypeptide-like protein-coding ENSG00000253506 HGNC:23290 16487 609274 VALIDATED 1605022 NACAP1 nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 INTERACTS WITH 2-methylcholine; cyclosporin A; disodium selenite 8 8 8 q22.3 98566063 98566765 + 102381121 102381823 + 101368893 101369595 + 6480464 12477932;17353931;19615732;21139048;21903422;21906983;22939629;23718855 83955 Q9BZK3 ABBA01037591;AF315951;AMYH02018513;AP001208;BC069062;BC069411;BC069542;BC074958;BC074959;NR_002182 AAG50269;Q9BZK3 Hs.567608 1788402;5015961;5024039;5037552;5109717;5492727;5493987 D12S1140E;D15S1477;D16S325;D8S2279;UniSTS:480654;UniSTS:482150;fa27d08.s1 FKSG17 pseudo ENSG00000228224 HGNC:24688 PROVISIONAL 7823598 NACAP2 nascent-polypeptide-associated complex alpha polypeptide pseudogene 2 10 10 10 q26.12 115487529 115488268 - 121756520 121757259 - 119996996 119997748 - 651144 ABBA01062880;AC027672;AMYH02023916;NG_005845 pseudo HGNC:49489 INFERRED 8164658 NACAP3 nascent-polypeptide-associated complex alpha polypeptide pseudogene 3 12 12 93517742 93518415 - 93123921 93124639 - 101928685 ABBA01053383;AC138123;AMYH02026940 pseudo HGNC:49490 MODEL 1314164 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 q14.3-q21 87168325 87226293 + 89867772 89926062 + 90134604 90192894 + 1580863;6480464;8554872 10085079;11905994;12204797;12477932;15146197;16303743;19678840;20379614;21738478 10003 E9PII2;E9PJ53;E9PJV2;E9PKX5;J3KNJ3;Q9Y3Q0 ABBA01040072;AJ012370;AK075390;AL133614;AMYH02025311;AP000648;BC027594;BC038840;BC067793;BC096316;BC096317;BC096318;BC099646;BU618706;CH471065;CN355388;CS051189;NM_001300930;NM_005467;XM_005273701;XM_005273702;XM_006718757 AAH27594;AAH38840;AAH96316;AAH96317;AAH96318;AAH99646;BAG52126;CAB39967;CAI72090;EAW66865;NP_001287859;NP_005458;Q9Y3Q0;XP_005273758;XP_005273759;XP_006718820 Hs.503560 1659933;1659935;1690454;1710414;1754589;2106545 NAALAD2__6206;RH46277;RH92833;SHGC-132875;SHGC-53907;SHGC-82492 GCPIII;GPCIII;MGC116996;MGC26353;NAADALASE2;NAALADASE2 N-acetylated alpha-linked acidic dipeptidase II;N-acetylated-alpha-linked acidic dipeptidase 2;N-acetylated-alpha-linked acidic dipeptidase II;NAALADase II;OTTHUMP00000232738;OTTHUMP00000232739;glutamate carboxypeptidase III APPROVED protein-coding ENSG00000077616 HGNC:14526 07494 611636 REVIEWED 7827806 NACAP5 nascent-polypeptide-associated complex alpha polypeptide pseudogene 5 4 4 4 p15.32 18018735 18019369 - 17553740 17554374 - 17552004 17552803 - 645108 ABBA01032609;AC006160;AMYH02008822;NG_022007 pseudo HGNC:49492 INFERRED 8169459 NACAP4 nascent-polypeptide-associated complex alpha polypeptide pseudogene 4 2 2 2 13640728 13641334 + 13723813 13724419 + 13583688 13584294 + 100421926 ABBA01015673;AC092635;AMYH02003305;NG_023678 pseudo HGNC:49491 INFERRED 8160177 NACAP7 nascent-polypeptide-associated complex alpha polypeptide pseudogene 7 6 6 90131818 90182639 - 89422099 89472920 - 101059973 ABBA01040530;ABBA01040531;AL136971;AL138717;AMYH02014083;AMYH02014084;AMYH02014085 pseudo HGNC:49494 MODEL 1345487 NACB nascent-polypeptide-associated complex beta polypeptide 8047162 HGNC:7630 1318533 NACA nascent polypeptide-associated complex alpha subunit The protein encoded by this gene associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). NAC binds to nascent proteins as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. However, nascent proteins with an exposed signal peptide will not be bound by the encoded protein, enabling them to bind the SRP and enter the secretory pathway. This protein has been determined to be an IgE autoantigen in atopic dermatitis patients. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 12 12 12 q23-q24.1 56760235 56773290 - 57106211 57119326 - 56712427 56726275 - 1580863;6480464 10224091;10982809;11042152;12011100;12109594;12209604;12406326;12477932;12684039;12689679;12699894;14702039;15196207;15345747;15489334;15784678;16009940;16169070;16196087;16201836;17676665;18781797;19609276;19738201;20000738;20020773;20214399;20360068;20972266;21110914;21139048;21145461;21509594;21800051;21890473;21903422;21906983;21907836;21963094;21988832;22053931;22082360;22145905;22304920;22505724;22779921;22863883;22939629;23000965;23862649;24244333;24654937;24816145;25015289;8047162;8125298;8698236;8835540;9488445;9488446 4666 E9PAV3;F8VNW4;F8VZ58;F8VZJ2;F8W029;F8W0C7;F8W0W4;F8W1N5;H0YHX9;Q13765 ABBA01008435;AC117378;AF054187;AK090650;AK096699;AK223085;AK293209;AK311904;AMYH02026575;AY034001;AY605660;AY911673;BC105120;BC105122;BC106041;BG709003;CD246364;CH471054;CR450295;DB487006;NG_030341;NM_001113202;NM_001113203;NR_045277;X80909;XM_006719412;XM_006719413;XM_006719414;XM_006719415;XM_006719416;XM_006719417;XM_006719418;XM_006719419;XM_006719420;XM_006719421 AAC99403;AAI05121;AAI05123;AAI06042;AAK57544;AAV83778;AAX14393;BAD96805;BAG34845;BAG52208;BAG56749;CAA56869;CAG29291;E9PAV3;EAW96960;EAW96961;NP_001106673;NP_001106674;Q13765;XP_006719475;XP_006719476;XP_006719477;XP_006719478;XP_006719479;XP_006719480;XP_006719481;XP_006719482;XP_006719483;XP_006719484 Hs.505735 1744363;1788402;2111514;5015619;5022463;5037552;5109281;5109717 D11S3114;D11S4466;D12S1140E;D1S1425;D3S1673;D8S2279;GDB:451821;fa27d08.s1 HSD48;MGC117224;NACA1;skNAC NAC-alpha;OTTHUMP00000242658;OTTHUMP00000242659;OTTHUMP00000242660;OTTHUMP00000242827;OTTHUMP00000242828;OTTHUMP00000242829;OTTHUMP00000243058;alpha-NAC;alpha-NAC, muscle-specific form;nascent polypeptide-associated complex subunit alpha;nascent-polypeptide-associated complex alpha polypeptide APPROVED protein-coding ENSG00000196531 HGNC:7629 03137 601234 REVIEWED 6903986 NADK2-AS1 NADK2 antisense RNA 1 p13.2 12477932 101056700 BC033402 Hs.570980 NADKD1-AS1 APPROVED ncrna HGNC:41143 1604237 NADK2 NAD kinase 2, mitochondrial ENCODES a protein that exhibits NAD+ kinase activity; protein homodimerization activity; INVOLVED IN NAD metabolic process; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 5 5 5 p13.2 36078373 36127931 - 36192694 36242258 - 36192589 36242279 - 6480464;8554872 12477932;14702039;17207965;19322201;21890473;21906983;21963094;22939629;23212377;23616928;24847004;7566098 133686 B7Z8V7;D6RHI4;H0Y9H7;Q4G0N4 AA332693;ABBA01024164;ABBA01024165;ABBA01024166;ABBA01024167;AC008807;AC008942;AI377881;AK055158;AK057950;AK304009;AMYH02011163;AY360463;BC032912;BC045565;BC062567;BM990433;BX648388;CH471119;HY336341;NM_001085411;NM_001287340;NM_001287341;NM_153013;XM_005248241 AAH32912;AAH62567;AAQ62967;ADQ32546;BAB70864;BAH14093;EAW55939;EAW55940;EAW55941;NP_001078880;NP_001274269;NP_001274270;NP_694558;Q4G0N4;XP_005248298 Hs.81907 1652751;1670494;1672141;1687608;1787068;2129503;2164106;2170105;5015961;7186737 D15S1477;D5S1859;HSCZOB052;RH45821;RH91756;SGC33855;SHGC-154597;STS-T98033;WI-12390 C5orf33;DECRD;FLJ30596;MGC43298;MNADK;NADKD1 NAD kinase domain containing 1;NAD kinase domain-containing protein 1;NAD kinase domain-containing protein 1, mitochondrial;OTTHUMP00000161732;OTTHUMP00000221392;OTTHUMP00000221393;OTTHUMP00000221394;OTTHUMP00000221422;hypothetical protein LOC133686;mitochondrial NAD kinase APPROVED protein-coding ENSG00000152620 HGNC:26404 08088 615787;616034 VALIDATED 1606514 NADK NAD kinase NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM, Mar 2008] 1 1 1 p36.33 885216 912446 + 1682671 1711508 - 1751232 1780514 - 6480464;6907045;8554872 11594753;12477932;14702039;14704851;15146197;15161933;15324660;15489334;16169070;16189514;16341674;16710414;16751776;17353931;17855339;17979178;18624398;20379614;21526340;21890473;24250222;24255178;8619474;9110174 65220 J3KSP9;J3KTI3;J3QR86;J3QRC0;O95544;Q6PJ22 ABBA01016067;ABBA01016068;ABBA01016069;ABBA01016070;AF070630;AF250320;AK023114;AK095043;AK290161;AK291599;AK291728;AK296722;AK307645;AL031282;AMYH02000108;AMYH02000109;AY090771;BC001709;BC022063;BC024219;BM842058;BX647173;CH471183;CN349189;NM_001198993;NM_001198994;NM_001198995;NM_023018;XM_005244778;XM_006710837;XM_006710838;XM_006710839;XR_241040 AAG44568;AAH01709;AAH24219;AAM01195;BAB14412;BAF82850;BAF84288;BAF84417;BAH12420;EAW56151;EAW56152;EAW56153;EAW56154;EAW56155;NP_001185922;NP_001185923;NP_001185924;NP_075394;O95544;XP_005244835;XP_006710900;XP_006710901;XP_006710902 Hs.654792;Hs.731532;Hs.733075 1663298;1663300;1735968;1754011;2112390;2152862;2153826;2161159;2164035 A002A02;AL009806;D1S1956E;D1S3527;D1S3672;HSC10E022;RH41826;SHGC-132055;SHGC-74119 DKFZp686L22239;FLJ13052;FLJ37724;FLJ54695;FLJ77769;FLJ78247;FLJ78307;MGC1900;RP1-283E3.6;dJ283E3.1 OTTHUMP00000001109;OTTHUMP00000001110;OTTHUMP00000001111;poly(P)/ATP NAD kinase APPROVED protein-coding ENSG00000008130 HGNC:29831 16907 611616 VALIDATED 1625090 NACAD NAC alpha domain containing INVOLVED IN protein transport (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH valproic acid; zinc atom; zinc(0) 7 7 7 p13 45218992 45227329 - 45120036 45128493 - 45080437 45088954 - 6480464 12853948;21890473;21900206;23000965;24250222;24816145;8889548;9205841 23148 O15069 AB002361;ABBA01058247;AC013416;AMYH02015637;BM680676;BM728120;CH236960;EG328798;NM_001146334;XM_006715674 BAA20818;NP_001139806;O15069;XP_006715737 Hs.96633 1645577;2117945 RH48537;SGC32245 KIAA0363 NAC-alpha domain-containing protein 1;OTTHUMP00000214258 protein-coding ENSG00000136274 HGNC:22196 VALIDATED 1602697 NADSYN1 NAD synthetase 1 Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004] 11 11 11 q13.4 68457742 68506114 + 71164217 71212586 + 71453171 71501538 + 6480464;6907045 10737800;12477932;12547821;14702039;14704851;15231747;15489334;16189514;16712791;19724895;19851296;19913121;20198315;20418485;20541252;20628086;21139048;21890473;21963094;22390397;22505724;22785457;22797925;23000965;23636220;24250222;25036637;8125298 55191 E9PKY6;E9PND0;E9PNF5;H0YCF9;H0YCQ6;H0YDH3;H0YED2;Q6IA69 AB091316;ABBA01017551;AK001493;AK022436;AK094022;AK097946;AK225700;AL512694;AMYH02025067;AMYH02025068;AP000867;AP002387;AW804480;BC003638;BC003666;BC020977;BE730392;BI460954;BM554316;CB141878;CH471076;CR457286;NM_018161 AAH03638;AAH03666;BAA91722;BAB14034;BAC65148;BAG53556;CAG33567;EAW74792;EAW74793;NP_060631;Q6IA69 Hs.556986 1667071;1705492 RH71154;SHGC-83836 FLJ10631;FLJ36703;FLJ40627 NAD(+) synthase;NAD(+) synthetase;OTTHUMP00000235817;glutamine-dependent NAD synthetase;glutamine-dependent NAD(+) synthetase APPROVED protein-coding ENSG00000172890 HGNC:29832 16309 608285 VALIDATED 7774153 NACAP6 nascent-polypeptide-associated complex alpha polypeptide pseudogene 6 5 5 5 p15.1 16215839 16216449 - 16192207 16192816 - 16192098 16192707 - 100132778 ABBA01020657;AC092335;AMYH02010918;NG_021840 pseudo HGNC:49493 INFERRED 1319559 NACC2 NACC family member 2, BEN and BTB (POZ) domain containing ENCODES a protein that exhibits histone deacetylase activity; histone deacetylase binding; protein homodimerization activity; INVOLVED IN cellular protein complex localization; histone deacetylation; negative regulation of cell proliferation; FOUND IN nuclear chromatin; nucleus; NuRD complex; INTERACTS WITH diazinon; formaldehyde; hydrogen peroxide 9 9 9 q34.3 109421076 109505450 - 138898383 138987131 - 136006537 136095285 - 737633;1580863;6480464 12477932 14702039;15164053;15489334;16341674;18976975;20379614;21906983;21988832;22926524 138151 Q96BF6 ABBA01030050;ABBA01030051;ABBA01030052;ABBA01030053;ABBA01030054;ABBA01030055;ABBA01030056;AK055078;AK056521;AK094914;AK308497;AK309247;AK311634;AL138781;AL355574;AL591038;AL832276;AMYH02021886;AMYH02021887;AMYH02021888;AMYH02021889;AMYH02021890;AMYH02021891;AMYH02021892;BC015649;BC045702;BM791117;CH471090;NM_144653 AAH15649;ABM84400;ABM87147;EAW88193;EAW88194;EAW88195;EAW88196;EAW88197;NP_653254;Q96BF6 Hs.112895;Hs.736561 1700984;1765245;2163566 RH104119;SHGC-148734;SHGC-57330 BEND9;BTBD14;BTBD14A;BTBD31;MGC23427;NAC-2;RBB BEN domain containing 9;BTB (POZ) domain containing 14A;BTB/POZ domain-containing protein 14A;OTTHUMP00000022564;nucleus accumbens-associated protein 2;repressor with BTB domain and BEN domain;transcription repressor with a BTB domain and a BEN domain protein-coding ENSG00000148411 HGNC:23846 09831 615786 VALIDATED 1606990 NAF1 nuclear assembly factor 1 ribonucleoprotein ENCODES a protein that exhibits poly(A) RNA binding; RNA binding; INVOLVED IN ribosome biogenesis; FOUND IN small nucleolar ribonucleoprotein complex; INTERACTS WITH 5-fluorouracil; atrazine; cyclosporin A 4 4 4 q32.2 161380432 161420296 - 164047860 164088073 - 163084037 163166921 - 6480464 12477932;14702039;15302935;16601202;16618814;17135485;18029348;19095616;19615732;19896111;20010695;20797317;21139048;21693764;21906983;21931644;22113938;22863883;22939629;22952844;23717386;24706857 92345 D6RIB3;Q96HR8 ABBA01070268;AC022272;AK097352;AK308601;AMYH02010414;AMYH02010415;BC008207;CH471056;NM_001128931;NM_138386;XM_005263349;XM_005263350;XM_006714413;XM_006714414 AAH08207;EAX04843;EAX04844;NP_001122403;NP_612395;Q96HR8;XP_005263406;XP_005263407;XP_006714476;XP_006714477 Hs.129095 1706260;1849802;2116047;2149268;5016478;5037552 D8S2279;GDB:434012;SHGC-24075;SHGC-59340;SHGC-80676;SHGC-8541 hNAF1 H/ACA ribonucleoprotein complex non-core subunit NAF1;OTTHUMP00000220110;OTTHUMP00000220131;nuclear assembly factor 1 homolog APPROVED protein-coding ENSG00000145414 HGNC:25126 10054 VALIDATED 1314403 NAGA N-acetylgalactosaminidase, alpha- NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008] 22 22 22 q11 26260520 26273049 - 42454338 42466852 - 42058334 42070842 - 1600557;1600558;1580863;6480464;6907045;7240710;8554872;8699517 2243144;8040340 10360181;10591208;10704524;11251574;12062184;12477932;15461802;15489334;15619430;1646157;17171432;19394758;19683538;19853240;20444686;2122119;2174888;21832049;21906983;22268729;2256909;2372288;2551294;7707696;8071745;8782044;9252785;9741689 4668 P17050 ABBA01055661;AMYH02038454;BC000095;BE734247;CB988165;CH471095;CR456527;M29276;M38083;M59199;M62783;NG_009247;NM_000262;XM_005261615;XM_005261616;XM_005261617;Z99716 AAA36351;AAA51677;AAA59902;AAB06718;AAH00095;ABM82800;ABM85988;CAG30413;CAK54558;CAK54857;EAW60484;EAW60485;EAW60486;NP_000253;P17050;XP_005261672;XP_005261673;XP_005261674 Hs.75372 1690644;1743133;1769776;2133327;2139671;2151529;2219968;5022578;5091309 D1S1423;D22S1029;D22S1041;D22S1240;GDB:270295;NAGA__6207;RH17702;RH27832;WI-7665 D22S674;GALB Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B);OTTHUMP00000199655;OTTHUMP00000199656;OTTHUMP00000199657;alpha-N-acetylgalactosaminidase;alpha-galactosidase B APPROVED protein-coding ENSG00000198951 HGNC:7631 00076 104170;609241;609242 REVIEWED 6770755 NAGPA-AS1 NAGPA antisense RNA 1 16 16 5083703 5092972 + 5033702 5042971 + 14702039 100507589 ABBA01026798;AC026458;AK055222;AMYH02031331;NR_038913 Hs.729936 1698816;2168594;5022651 D11S2921;D16S3329;RH102972 APPROVED ncrna HGNC:44184 VALIDATED 1319056 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. This reaction most likely occurs in the trans-Golgi network. This enzyme functions as a homotetramer of two disulfide-linked homodimers. In addition to having an N-terminal signal peptide, the protein's C-terminus contains multiple signals for trafficking it between lysosomes, the plasma membrane, and trans-Golgi network. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 5284227 5293324 - 5074845 5083942 - 5024844 5033941 - 1580863;6480464 10551838;11408573;11723124;12058031;12477932;14702039;15489334;15976452;16344560;20147709;21956109;21988832;22884963;23572527;7786023;8619474;8922957;9110174;9722550 51172 K7EJ25;K7EK96;K7EL75;K7EPH3;K7ERI4;Q9UK23 ABBA01026798;AC026458;AF052111;AF187072;AK025570;AK026122;AK092889;AK127952;AK302916;AK314320;AMYH02031331;BC012194;CH471112;DA879815;NG_028152;NM_016256;XR_243285;XR_243286 AAF08273;AAH12194;BAG36968;BAG54605;BAG64081;EAW85245;EAW85246;NP_057340;Q9UK23 Hs.21334 1680146;1690876;5016781 RH64906;RH80883;SHGC-67307 APAA;UCE OTTHUMP00000115598;alpha-N-acetylglucosaminyl phosphodiesterase;lysosomal alpha-N-acetylglucosaminidase;mannose 6-phosphate-uncovering enzyme;phosphodiester alpha-GlcNAcase APPROVED protein-coding ENSG00000103174 HGNC:17378 12145 607985 REVIEWED 1349520 NAGS N-acetylglutamate synthase The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38790120 38794524 + 42082032 42086436 + 44004664 44009068 + 1600560;1580863;6480464;6907045;7240710;8554872;8699517 12594532 12049647;12447942;12459178;12477932;12754705;14702039;15050968;15714518;15878741;16169070;16321554;17421020;17510757;17703373;19533169;19913121;20301396;20303810;20628086;20877624;22383952 162417 K7EK11;Q8N159 ABBA01028392;AC023855;AI241153;AK074407;AK091938;AK300923;AK314432;AMYH02033467;AY116537;AY116538;AY158070;BC111713;BF589712;CH471178;NG_008106;NG_023338;NM_153006 AAI11714;AAM75385;AAM75386;AAN76451;BAG37046;BAG62555;EAW51643;NP_694551;Q8N159 Hs.8876 1688787 RH75045 AGAS;ARGA;MGC133025 N-acetylglutamate synthase, mitochondrial;amino-acid acetyltransferase APPROVED protein-coding ENSG00000161653 HGNC:17996 10510 237310;608300 REVIEWED 733941 NAE1 NEDD8 activating enzyme E1 subunit 1 The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q22 51345091 51373189 - 66836781 66864880 - 66802878 66830977 - 734592;1300048;1580863;634557;6480464;6907045;8554872 12646924;8626687 10207026;10493829;10597293;10722740;11230166;12477932;12694406;12740388;14557245;14690597;14702039;15361859;15489334;16169070;16341674;16400609;16503656;16620772;17220875;17353931;18264111;18274552;18627766;18652489;19615732;19795456;21139048;21145461;21151996;21890473;21906983;21963094;21988832;22182960;22505724;22863883;22939629;23000965;23185368;23824602;23936405;24250222;24654937;24816145;25015289;9694792 8883 H3BMN8;H3BMR3;H3BQ16;H3BQW6;H3BS69;H3BSS8;J3KRK3;J3KTE3;J3QLH4;J3QRA5;Q13564 ABBA01025417;ABBA01025418;AC004638;AC044802;AK097680;AK298159;AK307677;AK312784;AL136798;AMYH02032216;AY197612;BC000480;BC013301;BC041323;BM045535;BM785899;CH471092;JC212129;NM_001018159;NM_001018160;NM_001286500;NM_003905;U50939;XM_005256215 AAC23784;AAC50477;AAH00480;AAH13301;AAP35030;ABM83667;ABM86913;BAG35647;BAG53511;BAH12735;CAB66732;CDM22116;EAW83042;EAW83043;NP_001018169;NP_001018170;NP_001273429;NP_003896;Q13564;XP_005256272 Hs.460978 1664357;1678747 Cda01h11;RH65010 A-116A10.1;APPBP1;HPP1;ula-1 APP-BP1;NEDD8-activating enzyme E1 regulatory subunit;NEDD8-activating enzyme E1 subunit;OTTHUMP00000174807;OTTHUMP00000174808;amyloid beta precursor protein binding protein 1, 59kDa;amyloid beta precursor protein-binding protein 1, 59 kDa;amyloid beta precursor protein-binding protein 1, 59kD;amyloid protein-binding protein 1;app-binding protein 1;proto-oncogene protein 1;protooncogene protein 1 APPROVED protein-coding ENSG00000159593 HGNC:621 04545 603385 REVIEWED 1351904 NAGLU N-acetylglucosaminidase, alpha This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008] 17 17 17 q21 37343885 37352401 + 40687951 40696467 + 42535933 42544449 + 1580863;6480464;7240710;7241018;7241012;7241013;7241016;7241007;8554872;8699517 10094189;10588735;11136549;11668611;4261742 10833408;10857861;11068184;11237686;11793481;12202988;12477932;12709672;14671302;15489334;15933803;1783617;18218046;19056867;20138557;20585324;21890473;21906983;21963094;22102531;22268729;22935351;23380547;24266751;6781343;8650226;8703123;8776591;9443878;9950362 4669 K7END1;K7ENX5;K7EQH9;K7ESD7;P54802 ABBA01006421;ABBA01006422;AC067852;AI299657;AMYH02033430;AY401970;BC053991;BF435029;BQ012843;CH471152;L78464;L78465;NG_011552;NM_000263;U40846;U43572;U43573;XM_006721920;XM_006721921 AAB06188;AAB36604;AAB36605;AAC50512;AAC50513;AAH53991;EAW60832;EAW60833;NP_000254;P54802;XP_006721983;XP_006721984 Hs.50727 1770313;1791562 PMC115182P5;RH18065 MPS-IIIB;MPS3B;NAG;UFHSD N-acetyl-alpha-glucosaminidase;alpha-N-acetylglucosaminidase APPROVED protein-coding ENSG00000108784 HGNC:7632 02017 252920;609701 REVIEWED 1348051 NAIF1 nuclear apoptosis inducing factor 1 INVOLVED IN negative regulation of cell growth; regulation of mitochondrial membrane permeability involved in apoptotic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion; nucleus; plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); dibutyl phthalate (ortholog) 9 9 9 q34.11 101475536 101481621 - 130823512 130829600 - 128061233 128067321 - 737633;6480464;8554872 12477932 14702039;15164053;15489334;16344560;16378748;18339812;20133760;203245;21044950;21286669 203245 Q69YI7 ABBA01043863;ABBA01043864;AI864878;AK122729;AL360268;AL833392;AMYH02021708;BC013371;BC021580;BC047160;CH471090;DA661395;NM_197956;XR_242574;XR_428519 AAH21580;BAG53693;CAH10588;EAW87735;EAW87736;EAW87737;NP_931045;Q69YI7 Hs.373606;Hs.740682 1684794;2141147;5014051;5015619;5037552 D11S3114;D8S2278;D8S2279;RH94342;SHGC-57003 C9orf90;DKFZp762G199;RP11-379C10.2;bA379C10.2 OTTHUMP00000022227;nuclear apoptosis-inducing factor 1 protein-coding ENSG00000171169 HGNC:25446 12987 610673 VALIDATED 6484624 NALCN-AS1 NALCN antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 q33.1 101360579 101711638 + 100708325 101059286 + 8554872 20889312 100885778 ABBA01027083;ABBA01027084;ABBA01027085;AEKP01041322;AK025806;AL137879;AL138707;AL139374;AL356732;AL359085;AL391841;AMYH02028612;AMYH02028613;HG505853;KF455817;KF455820;NR_047687 Hs.602949 RP11-430M15.1 APPROVED ncrna ENSG00000233009 HGNC:42743 VALIDATED 733715 NALCN sodium leak channel, non-selective NALCN forms a voltage-independent, nonselective, noninactivating cation channel permeable to Na+, K+, and Ca(2+). It is responsible for the neuronal background sodium leak conductance (Lu et al., 2007 [PubMed 17448995]).[supplied by OMIM, Mar 2008] 13 13 13 q32.3 82551415 82911536 - 101706130 102068813 - 101053776 101416462 - 1580863;6480464;8699517;7240710;8554872 11991713;12364586;12477932;12498692;14702039;16344560;17448995;19308021;19535918;19575010;20379614;20674038;20889312;22628157;23144319;23749988;24075186;24132900 259232 B3KMK1;Q8IZF0 ABBA01027082;ABBA01027083;AE014293;AF339780;AK002089;AK055506;AK094390;AK094669;AK126621;AK126718;AK172752;AL138707;AL354891;AL356778;AMYH02028613;AMYH02028614;AMYH02028615;AMYH02028616;AMYH02028617;AY141972;BC012128;BC028390;BC064343;CH471085;DA128114;KF455824;KF511189;NM_052867;XM_006719943;XM_006719944;XM_006719945 AAH28390;AAH64343;AAN10255;AAN16023;ADZ15478;BAD18738;BAG51013;BAG51529;BAG52908;BAG54350;BAG54365;EAX09045;EAX09046;EAX09047;EAX09048;EAX09049;EAX09050;NP_443099;Q8IZF0;XP_006720006;XP_006720007;XP_006720008 Hs.525146 1339614;1682926;1707888;1713725;1715177;1730065;1751465;1754847;1777403;2110871;2111732;2184886;2190113;2190117;2190159;2190161;2190163;2190167;2190169;2190171;2190173;2190175;2190183;2190217;7184666 99-62611;99-62626;99-79306;99-79310;99-79311;99-79313;99-79316;99-79322;99-79336;99-79338;99-79396;99-79431;D13S1282;D13S147;D13S1632;D13S224E;RH119839;RH120745;RH28455;RH48423;SHGC-105265;SHGC-141771;SHGC-82188;STS-N40916 FLJ23913;FLJ44659;FLJ44764;INNFD;MGC74524;VGCNL1;bA430M15.1 CanIon;OTTHUMP00000018654;four repeat voltage-gated ion channel;sodium leak channel non-selective protein;voltage gated channel like 1;voltage gated channel-like protein 1 APPROVED protein-coding ENSG00000102452 HGNC:19082 15647 611549;615419 VALIDATED 732621 NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012] 19 19 19 p13.2 13119516 13142359 + 13228813 13251961 + 13117999 13141147 + 737633;1580863;6480464 12477932 11906783;14702039;15302935;15489334;16033423;17130457;17391728;17699672;17804717;18029348;18347169;18483383;19121354;19305429;19407373;19471022;20372782;20869761;21240255;21301057;21562571;21693764;21743489;21889186;21906983;21963094;22024751;22653145;22665267;22665369;22993327;23022214;23251661;23252869;24200849;24231739;24255178;24816145;25027693 112939 K7ELC5;K7ENW4;Q96RE7 ABBA01029753;AC005546;AC011446;AF395817;AK094702;AK123056;AK226064;AMYH02035568;AMYH02035569;BC055396;BU508302;BU623112;BX395451;CH471106;NM_052876;XM_005259721;XM_006722632 AAH55396;AAK83885;EAW84352;EAW84353;EAW84354;NP_443108;Q96RE7;XP_005259778;XP_006722695 Hs.531614 1701352 RH104306 BEND8;BTBD14B;BTBD30;FLJ37383;NAC-1;NAC1 BEN domain containing 8;BTB (POZ) domain containing 14B;BTB/POZ domain-containing protein 14B;nucleus accumbens associated 1;nucleus accumbens-associated protein 1;transcriptional repressor NAC1 APPROVED protein-coding ENSG00000160877 HGNC:20967 10692 610672 REVIEWED 9587191 NAMPTP2 nicotinamide phosphoribosyltransferase pseudogene 2 5 5 5 q31.3 140462765 140466330 - 144381801 144385364 - 145002238 145005801 - 100132712 ABBA01026354;AC005371;AMYH02012395;NG_021864 pseudo HGNC:51314 INFERRED 1345300 NAMPTP1 nicotinamide phosphoribosyltransferase pseudogene 1 ENCODES a protein that exhibits nicotinate-nucleotide diphosphorylase (carboxylating) activity (inferred); INVOLVED IN NAD biosynthetic process (inferred); INTERACTS WITH (S)-amphetamine (ortholog); (S)-nicotine (ortholog); 17alpha-ethynylestradiol (ortholog) 10 10 10 p11.21 36576870 36579370 - 36810647 36813147 - 36521719 36524219 - 737633;6480464 12477932 22268729;8289818 646309 F5H246;Q5SYT8 ABBA01033319;ABBA01033320;AL590730;AMYH02022642;NG_005593 PBEF2;RP11-92J19.4;bA92J19.4 APPROVED pseudo HGNC:17633 INFERRED 1349230 NAMSD neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome) ASSOCIATED WITH Cowchock syndrome (inferred) 7240710 4672 HGNC:7635 310490 5478866 NAMA non-protein coding RNA, associated with MAP kinase pathway and growth arrest 9 9 q22.33 102117622 102138064 - 99355340 99375257 - 17415708;23874384 100996569 ABBA01042902;AL137067;AMYH02021329;DQ673922;DQ673923;DQ673924;DQ673925;DQ673926;DQ673929;DQ673930;DQ673933;DQ673934;DQ673936;DQ673950;DQ673958;DQ673963;DQ673965;HG502307;HG502308;HG502310;NR_102270;NR_102271 Hs.745280 RP11-13B9.5 ncrna ENSG00000271086 HGNC:42408 VALIDATED 5684568 NANOGNBP1 NANOGNB pseudogene 1 2 2 q11.2 101274340 101277406 + 100657878 100660944 + 100859926 ABBA01073925;AC092845;AMYH02004415;NG_031948 pseudo HGNC:42158 INFERRED 6770074 NANOGNBP3 NANOGNB pseudogene 3 X X 100592300 100593195 - 101337312 101338207 - 100652831 ABBA01044973;AL035422;AMYH02040066;NG_032794 pseudo HGNC:42160 INFERRED 1347686 NANOG Nanog homeobox ENCODES a protein that exhibits DNA binding; sequence-specific DNA binding transcription factor activity; transcription corepressor activity (ortholog); INVOLVED IN cell differentiation; cell proliferation; endodermal cell fate specification; PARTICIPATES IN DNA modification pathway; FOUND IN nucleolus; nucleus; INTERACTS WITH (+)-catechin; (S)-nicotine; 17beta-hydroxy-5alpha-androstan-3-one 12 12 12 p13.31 9520085 9526744 + 7941995 7948655 + 7789399 7796059 + 6480464;8695944 24825349 12477932;12787492;12787504;12787505;12927049;14702039;14990856;15108323;15233988;15582778;15615706;15749924;15982323;15983365;16000880;16153702;16391521;16501172;16540082;16923129;17196939;17211451;17314394;17506876;18039466;18086680;18187129;18199879;18388306;18393632;18419830;18439155;18441325;18593985;18682241;18757296;18772339;18932205;18946985;18957414;19036726;19060217;19102659;19139263;19229867;19279133;19350681;19415763;19427902;19458492;19483629;19522013;19567677;19633292;19639208;19751112;19834952;19933152;20071344;20103622;20173672;20211142;20427424;20458727;20510497;20539761;20581802;20581804;20622153;20662612;20698766;20879854;20930529;21062744;21119109;21136380;21227461;21235326;21246261;21266826;21299413;21336986;21362572;21464727;21499299;21559406;21559451;21573506;21628563;21631526;21685938;21689639;21720384;21726833;21810410;21852325;21911602;21969378;21987446;22014056;22079639;22143343;22252524;22337995;22339500;22340650;22378194;22381696;22388813;22482508;22493428;22516749;22528228;22528804;22562535;22576926;22677041;22683467;22686476;22714588;22743827;22777760;22795133;22847005;22901285;22914767;22927443;22934707;22945654;22949105;22963770;23064289;23092806;23093782;23095773;23211052;23213213;23221432;23226362;23307247;23329853;23349823;23424657;23427894;23438436;23467648;23468991;23474366;23536578;23541921;23559352;23648139;23708493;23708658;23736381;23770853;23801022;23872274;23932306;24018162;24459810;24462277 79923 F5GZI2;Q9H9S0 AB093576;ABBA01012211;AC006517;AI656990;AK022643;AK290896;AMYH02025976;AY230262;AY578089;BC069807;BC098275;BC099704;CH471116;CQ860374;DC425336;NM_001297698;NM_024865;XM_005253484 AAI60187;AAP49529;AAT81526;ABZ92376;BAB14151;BAC76999;BAF83585;CAH25962;EAW88649;EAW88650;EAW88651;NP_001284627;NP_079141;Q9H9S0;XP_005253541 Hs.635882 1298310;1660838;1783270;5014051;5022200;5037552;5493051 D15S971;D8S2278;D8S2279;L18426;SHGC-156015;STS-M96982;UniSTS:484047 OTTHUMP00000231725;OTTHUMP00000231727;OTTHUMP00000238800;hNanog;homeobox protein NANOG;homeobox transcription factor Nanog;homeobox transcription factor Nanog-delta 48 protein-coding HGNC:20857 06397 607937 VALIDATED 2881521 NANOGNB NANOG neighbor homeobox ENCODES a protein that exhibits DNA binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); ammonium chloride (ortholog) 12 12 12 p13.31 9495913 9504806 + 7917812 7926717 + 7765216 7774121 + 6480464 12477932 360030 Q7Z5D8 ABBA01012211;AC006517;AMYH02025974;AMYH02025975;AY151139;NM_001145465 AAP76323;NP_001138937;Q7Z5D8 Hs.558004 1666366 G17627 OTTHUMP00000228427;homeobox C14;homeobox protein C14 APPROVED protein-coding ENSG00000205857 HGNC:24958 PROVISIONAL 1604902 NANOGP11 Nanog homeobox pseudogene 11 6 6 6 q25 153601454 153601854 + 152867750 152868150 + 152546615 152547015 + 15233988 414135 ABBA01025618;AL589963;AMYH02014741;NG_004103;NG_012855 pseudo HGNC:32941 INFERRED 1342719 NANOGP10 Nanog homeobox pseudogene 10 X X X p11.3 47409685 47411388 - 43266291 43267995 - 43407042 43408746 - 15108323;15233988 349372 ABBA01046482;AL023574;AMYH02039227;AY455280;NG_004096 NANOGP5 pseudo HGNC:23108 INFERRED 1346849 NANOGP2 Nanog homeobox pseudogene 2 2 2 2 q36 217085097 217086403 - 223316894 223318200 - 222452175 222453481 - 1323844 15108323 15233988;414131 414131 ABBA01023814;AC097461;AMYH02005858;AY455279;NG_004099 NANOGP4 pseudo HGNC:23100 INFERRED 1342922 NANOGP3 Nanog homeobox pseudogene 3 6 6 6 p12.1 54945421 54946109 - 53283266 53283954 - 53418468 53419156 - 15233988 340217 ABBA01050535;AL591034;AMYH02013748;NG_004095 pseudo HGNC:23101 INFERRED 1351636 NAMPT nicotinamide phosphoribosyltransferase This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. [provided by RefSeq, Feb 2011] 7 7 7 q22.3 100694260 100731169 - 105888731 105926373 - 106248285 106285732 - 737633;1580863;1642336;1642337;1642340;1642345;1642341;2311119;2311099;6480464;6907045 12477932;15922301;16234302;17283255;17556870;17582143;17618961;18410550 11241162;12555668;12690205;12782293;12853948;14499622;14702039;14704851;15124023;15489334;15592455;15815727;15947248;16021090;16186392;16188281;16394088;16414972;16449335;16489932;16496121;16531748;16636125;16701870;16718635;16720654;16733497;16735449;16736128;16783377;16802343;16814166;16828081;16868228;16922702;16956691;17003355;17003359;1702972;17090638;17177135;17189536;17207965;17237424;17261426;17284735;17307730;17327330;17334748;17335820;17340225;17392604;17408594;17429683;17512309;17889652;17904242;17931620;17952840;17983582;17984105;18034779;18083357;18239648;18241953;18248642;18252866;18270432;18272217;18356846;18363885;18486613;18660489;18686225;18691043;18714344;18728403;18787378;18823127;18940394;18957417;18996492;19005759;19009499;19073361;19074645;19087564;19093738;19095760;19099366;19100714;19111298;19166999;19185944;19200966;19222486;19284295;19300429;19302375;19389865;19402217;19403191;19408173;19488934;19498324;19513556;19533482;19571557;19572235;19583971;19650786;19654329;19666527;19727662;19751774;19765775;19804767;19811274;19819277;19819904;19834878;19855187;19887595;19900033;19912992;19913121;19929281;19936064;19948877;20019453;20046156;20059442;20085562;20091460;20106640;20121389;20220292;20237496;20346233;20346239;20358348;20383745;20392873;20409603;20451405;20470278;20470283;20482384;20486883;20506278;20562859;20586547;20598369;20605615;20606733;20608974;20621376;20628086;20712903;20720266;20724478;20817637;20823688;20848232;20850423;20885390;20951014;20956937;21061834;21122936;21139048;21144000;21145308;21145461;21225497;21246369;21296365;21298414;21327328;21332548;21375135;21375196;21406189;21484571;21492230;21494798;21500554;21517777;21518975;21524918;21542902;21625240;21631570;21634360;21664630;21666788;21677044;21687707;21694775;21697093;21712732;21726671;21738955;21777266;21839801;21840905;21890473;21906432;21906983;21939650;21963094;21963513;21975728;21988832;22024288;22090280;22137121;22147201;22151390;22167446;22186408;22228719;22251423;22261365;22272940;22293189;22313145;22319029;22377803;22380724;22397743;22399297;22425808;22430142;22467327;22490590;22541073;22570471;22572766;22585407;22672864;22704488;22726553;22767598;22768255;22813406;22863883;22935190;22955917;22960047;22971561;23090276;23093105;23137677;23151382;23153509;23174347;23262103;23270673;23289013;23304061;23313810;23315983;23327785;23328215;23406471;23422767;23435312;23463506;23470357;23474107;23476106;23536823;23538464;23615041;23704051;23711190;23787158;23804809;23813132;23823317;23888552;23898059;23916712;23922874;23953183;24053186;24058270;24097869;24130902;24186266;24250222;24269296;24287278;24363084;24392007;24407162;24414799;24654937;24816145;25102689;8289818;9847074 10135 C9JF35;C9JG65;P43490 ABBA01057929;ABBA01057930;AC007032;AI299587;AK023341;AK292851;AK304085;AL832518;AMYH02016495;AMYH02016496;BC020691;BC072439;BC106046;BI859562;CH236947;CH471070;CS463832;CS545604;FB775574;HD117879;HH762803;L29050;NM_005746;U02020;XM_005250100 AAA17884;AAF19249;AAH72439;AAI06047;AAQ96862;ADQ32034;BAF85540;BAH14102;CAH56351;CAM12699;CAN36300;CAV30744;CBX74360;CBX78820;EAL24399;EAL24400;EAW83382;EAW83383;EAW83384;NP_005737;P43490;XP_005250157 Hs.489615 1682435;1856555;2160445;2165678;2165680;2170989 A002U17;D7S2650;RH16541;RH36790;SHGC-33252;SHGC-33423 1110035O14Rik;DKFZp666B131;MGC117256;PBEF;PBEF1;VF;VISFATIN NAmPRTase;OTTHUMP00000179149;OTTHUMP00000179150;pre-B cell-enhancing factor;pre-B-cell colony enhancing factor 1;pre-B-cell colony-enhancing factor 1 APPROVED protein-coding ENSG00000105835 HGNC:30092 09938 608764 REVIEWED 1352067 NANOGP4 Nanog homeobox pseudogene 4 7 7 7 p15 29241256 29243030 + 29251729 29253503 + 29212113 29213887 + 1323844 15108323 15233988 414132 ABBA01056795;AC004593;AMYH02015436;AY455277;CH236948;NG_004100;NG_029365 NANOGP2 pseudo HGNC:23102 INFERRED 1344781 NANOGP5 Nanog homeobox pseudogene 5 9 9 9 q31 73450674 73452671 + 102937281 102939278 + 100174999 100176996 + 15233988 414133 ABBA01042891;AL137072;AMYH02021336;NG_004101;NG_008316 pseudo HGNC:23103 VALIDATED 1604903 NANOGP6 Nanog homeobox pseudogene 6 10 10 10 q24 95285573 95286513 - 101548231 101549171 - 99788474 99789414 - 15233988 414134 ABBA01063243;AL133353;AMYH02023647;NG_004102;NG_011798 pseudo HGNC:23104 INFERRED 1349441 NANOGP1 Nanog homeobox pseudogene 1 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 3-methyladenine (ortholog); 5-fluorouracil (ortholog); acetic acid (ortholog) 12 12 12 p13 9606714 9629492 + 8028871 8051665 + 7876275 7899069 + 1323844;1580863;6480464 15108323 14702039;15233988;16469101;20427424;22851508 404635 Q8N7R0 ABBA01012219;ABBA01012220;AC007536;AC124891;AK097770;AMYH02025978;AMYH02025979;AMYH02025980;AY455283;NG_006522 AAS57555;BAC05167;Q8N7R0 Hs.635882 1784446 SHGC-154853 NANOG2 pseudo HGNC:23099 INFERRED 1343493 NANOGP9 Nanog homeobox pseudogene 9 X X X q12 65338748 65340817 - 64991605 64993674 - 65771763 65773832 - 15108323;15233988 349386 ABBA01067046;AL591595;AMYH02039615;AY455281;NG_004097 NANOGP6 pseudo HGNC:23107 INFERRED 1354099 NANOS2 nanos homolog 2 (Drosophila) ENCODES a protein that exhibits mRNA binding (inferred); zinc ion binding (inferred); INVOLVED IN germ-line stem cell maintenance (ortholog); mRNA catabolic process (ortholog); negative regulation of meiosis (ortholog); FOUND IN cytoplasm; nucleus; perinuclear region of cytoplasm; INTERACTS WITH thioacetamide (ortholog) 19 19 19 q13.32 43221499 43223063 - 46416472 46418036 - 45913214 45914778 - 6480464 12477932;12690449;12947200;14615895;15489334;19168545 339345 P60321 ABBA01040957;AC008623;AMYH02036211;BC042883;BC117484;BC117486;NM_001029861 AAH42883;AAI17485;AAI17487;ADR82819;NP_001025032;P60321 Hs.434218 2219976;5493699 NANOS2__6213;UniSTS:490370 NOS-2;NOS2 nanos homolog 2 protein-coding ENSG00000188425 HGNC:23292 18784 608228 VALIDATED 1315421 NANOS3 nanos homolog 3 (Drosophila) ENCODES a protein that exhibits RNA binding (ortholog); INVOLVED IN germ cell development; regulation of cell cycle (ortholog); regulation of translation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; perinuclear region of cytoplasm; INTERACTS WITH all-trans-retinoic acid; paracetamol; 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 p13.13 13881695 13885316 + 13988063 13991571 + 13877249 13880757 + 6480464;8554872 12477932;12947200;15057824;17418157;19565640;21421998;24091668;8889548 342977 P60323 ABBA01029709;AC020916;AMYH02035592;BC101209;BC101210;BI793167;CK821051;CK821052;DN993610;KF511254;NM_001098622 AAI01210;AAI01211;NP_001092092;P60323 Hs.127982 2107427 NANOS3__7322 MGC120114;NANOS1L;NOS-3;NOS3 nanos homolog 3 protein-coding HGNC:22048 608229 VALIDATED 1317831 NANOS1 nanos homolog 1 (Drosophila) ENCODES a protein that exhibits translation repressor activity (ortholog); INVOLVED IN cell migration; epithelial cell migration; negative regulation of translation (ortholog); ASSOCIATED WITH Autosomal dominant inheritance (inferred); Azoospermia (inferred); Infertility (inferred); FOUND IN cytoplasm; perinuclear region of cytoplasm; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP 10 10 10 q26.11 114519831 114524459 + 120789228 120793854 + 119029716 119034342 + 1580863;6480464;8699517;7240710;8554872 10862698;12690449;15164054;16573738;17047063;18223680;19168546;21800163;23315541;23320086 340719 Q5T9H5;Q8WY41 ABBA01062921;AF086393;AF275269;AF458985;AI276145;AL157788;AMYH02023898;CH471066;NM_199461 AAI56180;AAL36982;AAQ04765;EAW49409;NP_955631;Q8WY41 Hs.591918 1654222;1656027;2131987;2177042;5015619;5037552;5492995 Bdy77b02;D11S3114;D8S2279;RH46989;SHGC-36770;SHGC-57913;UniSTS:483572 EC_Rep1a;NOS-1;NOS1;SPGF12 OTTHUMP00000020587;OTTHUMP00000046853;nanos homolog 1 protein-coding ENSG00000188613 HGNC:23044 16302 608226;615413 VALIDATED 1312859 NAGK N-acetylglucosamine kinase This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011] 2 2 2 p13.3 71146088 71156678 + 71295408 71305998 + 71068277 71078868 + 1580863;6480464;6907045 10824116;11741987;12112843;12477932;12665801;14702039;15231747;15231748;15489334;15815621;15987957;16189514;16344560;17010375;19056867;21139048;21900206;21988832;22507750;22863883;24250222;24816145;8125298;8982040;9468341 55577 C9JEV6;C9JMR7;E9PPU6;H0YC94;H0YE82;H0YEB7;H0YF44;H7C1L7;H7C286;H7C3G9;Q9UJ70 AA641666;ABBA01075547;AC007881;AJ242910;AK001812;AK092876;AK097223;AK172854;AK222645;AK297224;AL832837;AMYH02004048;BC001029;BC005371;BC131781;BU599058;CH471053;CR457271;DB117133;NM_017567;XM_005264412;XM_005264413;XM_005264415;XM_006712045 AAH01029;AAH05371;AAY14748;ABM83600;ABM86842;BAA91923;BAD18815;BAD96365;BAG59707;CAB61848;CAG33552;EAW99780;NP_060037;Q9UJ70;XP_005264469;XP_005264470;XP_005264472;XP_006712108 Hs.7036 1676970;1693762;1756853;1854269;2147518;2147520;2161271;2190999;2191495;5037552 A006G04;D8S2279;G20779;MARC_12813-12814:999878148:1;MARC_24073-24074:1030028833:1;RH12380;RH47510;RH94004;SHGC-144012;SHGC-58833 GNK;HSA242910 N-acetyl-D-glucosamine kinase;OTTHUMP00000203497;OTTHUMP00000205285;OTTHUMP00000205286;glcNAc kinase APPROVED protein-coding ENSG00000124357 HGNC:17174 08441 606828 VALIDATED 1350164 NANOGP7 Nanog homeobox pseudogene 7 14 14 14 q32 72119154 72120435 - 92070529 92071810 - 91604185 91605466 - 1323844 15108323 15233988 414130 ABBA01030474;AL133373;AMYH02029748;AY455278;NG_004098 NANOGP3 pseudo HGNC:23105 INFERRED 1343112 NAIP NLR family, apoptosis inhibitory protein This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q13.2 66394371 66408214 + 70264310 70320941 - 70968483 71025114 - 1580863;6480464;6907045;8554872 10369862;10544044;10899114;11865055;11896143;11912351;11955612;12127562;12445469;12477932;14685266;15107016;15280366;15340105;15372022;17222062;17510375;17613533;17903057;17923748;17932457;18071605;18339188;18414036;18453601;18533950;18566024;18759060;18842367;18974562;19198020;19287802;19488400;19923725;20044205;20171302;21371431;21821450;22067212;23012363;23940371;23994529;24163370;24711022;7552146;7813013;8552191;9503025 4671 B7ZLE8;E5RJA3;E7EQW0;H0YAX2;Q13075 AB048533;AB048534;AB209123;ABBA01017580;ABBA01215535;AC005031;AC044797;AC139494;AC142525;AC244260;AK124511;AK295115;AK309627;AK311046;BC136273;BC143761;CH878390;NG_008724;NM_004536;NM_022892;U19251;U80017;XM_005248523;XM_005248524;XM_005276800;XM_005276801;XM_005276802;XM_006714626;XM_006714627;XM_006714628;XM_006714629;XM_006714630;XM_006725453;XM_006725454;XM_006725455;XM_006725456;XM_006725457;XM_006725458;XM_006725459;XM_006726218;XM_006726219;XM_006726220;XM_006726221;XM_006726222 AAC52045;AAC52047;AAC62261;AAI36274;AAI43762;BAB87181;BAD92360;BAG58144;EAW50510;NP_004527;NP_075043;Q13075;XP_005248580;XP_005248581;XP_005276857;XP_005276858;XP_005276859;XP_006714689;XP_006714690;XP_006714691;XP_006714692;XP_006714693;XP_006725516;XP_006725517;XP_006725518;XP_006725519;XP_006725520;XP_006725521;XP_006725522;XP_006726281;XP_006726282;XP_006726283;XP_006726284;XP_006726285 Hs.654500;Hs.710305 1729057;1729583;1785644;2112768;5014740;5037690;5115530 Birc1-rs1;D17S610;D5S266;D5S2799E;D5S2800E;SHGC-171452;SHGC-32267 BIRC1;FLJ18088;FLJ42520;FLJ58811;NLRB1 NLR family, BIR domain containing 1;OTTHUMP00000226926;OTTHUMP00000226927;OTTHUMP00000226928;baculoviral IAP repeat-containing protein 1;neuronal apoptosis inhibitory protein;nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1;psi neuronal apoptosis inhibitory protein;psiNAIP APPROVED protein-coding ENSG00000249437 HGNC:7634 600355 REVIEWED 1604926 NANOGP8 Nanog homeobox pseudogene 8 This locus is a processed pseudogene of the transcription factor NANOG. NANOG plays a central role in regulating self-renewal in pluripotent stem cells and tumor cells. This pseudogene contains an intact open reading frame that could potentially encode a protein similar to NANOG. Although there is no evidence of transcription from this pseudogene, RT-PCR studies suggest that NANOGP8 may be expressed in some cancer cell lines. In vitro studies using a recombinant NANOGP8 protein have shown that the protein localizes to the nucleus and can promote cell proliferation, similar to NANOG. [provided by RefSeq, Sep 2009] 15 15 15 q14 12134710 12136791 - 35375427 35377509 - 35083226 35085308 - 6480464 12477932;15108323;15233988;15489334;16623708;19415763;20581802;21136380;22079639;23173096;23752184;23839044 388112 Q6NSW7 ABBA01038508;AC021231;AMYH02030188;AY455284;NG_004093 Q6NSW7 1783270 SHGC-156015 MGC119250;NANOGP1;PN8 NANOG APPROVED pseudo HGNC:23106 REVIEWED 3398787 NAP1L1P2 nucleosome assembly protein 1-like 1 pseudogene 2 X Y Y p11.31 88986955 88987948 - 2797411 2798404 - 2929370 2930363 - 100128894 ABBA01069763;AC006157;NG_021905 2188061 G66036 pseudo HGNC:38005 INFERRED 1323660 NANS N-acetylneuraminic acid synthase This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008] 9 9 9 p24.1-p23 71333236 71359642 + 100818959 100845365 + 98056677 98083083 + 1580863;6480464;6907045;8554872 10749855;10873658;12477932;14702039;15164053;15489334;16263121;16274664;16597820;20562859;20800603;21139048;21906983;22863883;22939629;23824909;24654937;24816145;25027693;693772 54187 Q5TBR0;Q5TBR1;Q9NR45 ABBA01042919;AF161387;AF257466;AK001659;AK091184;AK316608;AL137073;AL526281;AMYH02021316;AMYH02021317;BC000008;BC019315;BQ446501;CH471105;FJ224349;NM_018946 AAF28947;AAF75261;AAH00008;AAH19315;ABM83093;ABM86287;ACI46041;BAA91818;BAG38195;EAW58866;EAW58867;EAW58868;EAW58869;NP_061819;Q9NR45 Hs.522310;Hs.665191 1758601;2123858;2171123;5022651;5024039 A008O24;D11S2921;D16S325;SHGC-148909;STS-N37069 HEL-S-100;SAS N-acetylneuraminate synthase;N-acetylneuraminate-9-phosphate synthase;N-acetylneuraminic acid phosphate synthase;OTTHUMP00000021769;epididymis secretory protein Li 100;sialic acid phosphate synthase;sialic acid synthase APPROVED protein-coding ENSG00000095380 HGNC:19237 07285 605202 REVIEWED 1343656 NAP1L3 nucleosome assembly protein 1-like 3 This gene is intronless and encodes a member of the nucleosome assembly protein (NAP) family. This gene is linked closely to a region of genes responsible for several X-linked mental retardation syndromes. [provided by RefSeq, Dec 2010] X X X q21.3-q22 93451177 93453856 - 92925925 92928682 - 93670926 93673683 - 724394;1580863;6480464 8976385 12477932;14702039;15772651;16344560;8125298;9417904 4675 Q8IYV1;Q99457;V9GYL6 AA463251;ABBA01064913;AK090772;AK095682;AK223621;AK315176;AL009173;AL119710;AMYH02039976;BC034954;BC094729;CH471115;D50370;DA294849;DA486883;NG_013275;NG_016400;NM_004538;U92991 AAH34954;ABM81729;ABM84884;BAA08904;BAD97341;BAG37617;BAG52225;BAG53108;EAX02782;NP_004529;Q99457 Hs.21365;Hs.732006 2108295;2179122;5095070 NAP1L3;NAP1L3_8494;RH15926 MB20;MGC26312;NPL3 OTTHUMP00000023645 APPROVED protein-coding ENSG00000186310 HGNC:7639 02123 300117 REVIEWED 737279 NAP1L1 nucleosome assembly protein 1-like 1 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing of this gene results in several transcript variants; however, not all have been fully described. [provided by RefSeq, Jul 2008] 12 12 12 q21.2 76105836 76145881 - 76438672 76478738 - 76044892 76084958 - 724386;1580863;6480464;9068945;8554872 23288364;8297347 11073993;11940655;12477932;12777385;14702039;14966293;15308774;15345747;15489334;16169070;16196087;16287874;16565220;16964243;17081065;17081983;17339334;17550899;17620599;17725712;18226242;18781797;18985028;19322201;19339032;19471022;19884766;19888548;19946888;20002496;20195357;20473970;20639865;20697350;20972266;21044950;21110914;21139048;21145461;21319273;21333655;21565611;21890473;21900206;21906983;21963094;21988832;22053931;22134777;22145905;22174317;22242598;22505724;22586326;22810585;22863883;22939629;23000965;23251661;23438482;23443559;23691099;23824909;24816145;25015289;7821789 4673 B3KV44;B7Z4K9;B7Z9C2;F5H4R6;F8VRJ2;F8VUX1;F8VV59;F8VVB5;F8VXI6;F8VY35;F8W020;F8W0J6;F8W118;F8W543;H0YH88;H0YHC3;H0YIV4;P55209 ABBA01026464;ABBA01026465;AC011611;AF086080;AF088017;AF300335;AK021751;AK122670;AK295147;AK297500;AK298936;AK304787;AL162068;AMYH02026781;AMYH02026782;BC002387;BC015599;BC018565;BT007023;CH471054;D28430;DC321631;M86667;NM_004537;NM_139207;XM_005268895;XM_005268896;XM_006719422;XM_006719423;XM_006719424;XM_006719425;XR_245930;XR_245931;XR_245932 AAC37544;AAG24631;AAH02387;AAP35669;ABM81627;ABM84476;ABM84811;BAA05796;BAG53656;BAH11990;BAH12595;BAH12906;BAH14258;CAB82405;EAW97314;EAW97315;EAW97316;EAW97317;EAW97318;EAW97319;EAW97320;EAW97321;NP_004528;NP_631946;P55209;XP_005268952;XP_005268953;XP_006719485;XP_006719486;XP_006719487;XP_006719488 Hs.524599;Hs.695185 1339055;1653931;1690578;1707850;1722983;1736396;1746803;1856488;2122239;2148635;2149281;2161631;2161633;2163280;2179234;5016771;5123981 A001X15;D12S1660;D12S1919;D12S2017;D14S655E;G19743;G19924;G60591;G64775;RH44713;RH47552;RH66860;RH68239;SGC32694;SHGC-2539;SHGC-82158;STS-T91337 FLJ16112;MGC23410;MGC8688;NAP1;NAP1L;NRP;hNRP HSP22-like protein interacting protein;NAP-1 related protein;NAP-1-related protein;OTTHUMP00000242072;OTTHUMP00000242126;OTTHUMP00000242127;OTTHUMP00000242128;OTTHUMP00000242129;OTTHUMP00000242130;OTTHUMP00000242131;OTTHUMP00000242211;OTTHUMP00000242213;OTTHUMP00000242214;OTTHUMP00000242216 APPROVED protein-coding ENSG00000187109 HGNC:7637 01248 164060 REVIEWED 3051039 NAP1L1P3 nucleosome assembly protein 1-like 1 pseudogene 3 3 3 3 q13.33 118934465 118935341 + 120524713 120525589 + 120805866 120806742 + 100130335 ABBA01016492;AC117472;AMYH02007520;NG_022267 pseudo HGNC:38007 INFERRED 1345004 NANP N-acetylneuraminic acid phosphatase ENCODES a protein that exhibits N-acylneuraminate-9-phosphatase activity; INVOLVED IN dephosphorylation; N-acetylneuraminate biosynthetic process; PARTICIPATES IN amino sugar metabolic pathway; nucleotide sugar metabolic pathway; INTERACTS WITH benzene-1,2,4-triol; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 20 20 20 p11.1 25667188 25678265 - 25593571 25604648 - 25612935 25624012 - 1580863;6480464;6907045 11780052;12477932;14702039;15489334;16237198;16344560;17207965;23824909;24250222;8889548 140838 Q8TBE9 ABBA01048714;AI693731;AK055472;AK074335;AL031673;AL833116;AMYH02036853;BC003415;BC022552;CF126993;CH471133;DA858639;NM_152667 AAH22552;ACE86671;ACE87355;ADQ31846;BAB85055;BAG51524;EAX10081;NP_689880;Q8TBE9 Hs.143137;Hs.606268 C20orf147;HDHD4;MGC26833;dJ694B14.3 N-acylneuraminate-9-phosphatase;Neu5Ac-9-Pase;OTTHUMP00000030503;haloacid dehalogenase-like hydrolase domain containing 4;haloacid dehalogenase-like hydrolase domain-containing protein 4 protein-coding ENSG00000170191 HGNC:16140 17097 610763 VALIDATED 3255047 NAP1L1P1 nucleosome assembly protein 1-like 1 pseudogene 1 11 11 11 q24.2 123102727 123103787 + 125937435 125938495 + 126067540 126068600 + 729561 ABBA01031229;AMYH02025743;AP000821;NG_021838 1340522;1675411;1709316;1709420 D11S1896;RH92885;SHGC-81646;SHGC-81744 pseudo HGNC:38004 INFERRED 6481031 NAP1L4P2 nucleosome assembly protein 1-like 4 pseudogene 2 X X 105710010 105710596 - 106466780 106467366 - 100874319 ABBA01035784;AL590306;AMYH02040204;NG_032355 pseudo HGNC:39739 INFERRED 1345486 NAP1L2 nucleosome assembly protein 1-like 2 The protein encoded by this intronless gene is a member of the nucleosome assembly protein (NAP) family. The encoded protein represents a class of tissue-specific factors that interact with chromatin to regulate neuronal cell proliferation. [provided by RefSeq, Jan 2011] X X X q13 72715677 72718207 - 72432135 72434710 - 73212299 73214874 - 1580863;6480464;8554872 10932189;12116227;12477932;15489334;18985028;20211142;20972266;21139048;21145461;21333655;21988832;8789438;8889548 4674 B4E161;Q9ULW6 AB027013;ABBA01059698;AC004074;AF136178;AK291297;AK303676;AK316569;AMYH02039769;BC026325;CB242638;CH471104;CR457095;NG_013274;NM_021963 AAH26325;AAP97268;BAA84706;BAF83986;BAG38158;BAG64673;CAG33376;EAW98670;NP_068798;Q9ULW6 Hs.66180;Hs.740565 1689498;1702904;1739813 DXS7041E;DXS7574E;RH94019 BPX;MGC26243 OTTHUMP00000023565;brain specific gene BPX;brain-specific protein, X-linked APPROVED protein-coding ENSG00000186462 HGNC:7638 02066 300026 REVIEWED 1348887 NAP1L5 nucleosome assembly protein 1-like 5 INVOLVED IN nucleosome assembly (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; calcitriol 4 4 4 q22.1 86913019 86914976 - 89617066 89619023 - 88695915 88697872 - 1580863;6480464;8554872 12383514;12477932;14702039;16169070;16189514;16344560;17291163;17353931;20098747;20622171;20936779;22863883;23000965;23824909 266812 Q96NT1 ABBA01063555;AC108065;AK054689;AL834329;AMYH02009698;BC022544;BC039416;BC104883;CH471057;DA041186;DB542768;NM_153757 AAI04884;BAB70793;CAD38997;EAX06025;NP_715638;Q96NT1 Hs.12554 1649435;1676674;1735402;1768501;2164869;5493599 1616;D4S2576E;D4S2809;RH12317;RH91176;UniSTS:488150 DRLM 1110020M21Rik;OTTHUMP00000161563;down-regulated in liver malignancy protein-coding ENSG00000177432 HGNC:19968 17626 612203 VALIDATED 5129396 NAP1L4P1 nucleosome assembly protein 1-like 4 pseudogene 1 1 1 1 p13.1 115302876 115305231 - 117074378 117076733 - 116531756 116534111 - 728589 ABBA01068487;AL355794;AL390066;AMYH02001792;NG_006955 1677879;1692004;1752733;1791772 AL033745;PMC124986P3;RH78061;SHGC-106572 pseudo HGNC:39740 INFERRED 5129395 NAP1L4P3 nucleosome assembly protein 1-like 4 pseudogene 3 13 13 13 q14.2 29392558 29393571 + 48337694 48338707 + 47763559 47764572 + 730174 ABBA01050999;AL138959;AMYH02027997;NG_021968 1721253;1723883;1901854 G59623;REN21728;RH119471 pseudo HGNC:39738 INFERRED 6766390 NAPA-AS1 NAPA antisense RNA 1 19 19 19 44793230 44805356 + 47987539 48005244 + 47484282 47501597 + 100505681 ABBA01041040;AC073548;AK057858;AMYH02036261;BG035979;HG510896;NR_038452 Hs.657320 1778781;1856436;2131747;5022576 D1S1361;RH11568;RH15934;STS-R61534 APPROVED ncrna ENSG00000268061 HGNC:44118 VALIDATED 7241712 NAPGP1 N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 1 10 10 10 q23.31 84206243 84206963 + 90459438 90460158 + 88699681 88700401 + 100288843 ABBA01021953;AL358532;AMYH02023504;NG_022185 1723459 RH118548 pseudo HGNC:45165 INFERRED 7241613 NAPGP2 N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 2 6 6 6 32527289 32527866 - 30929178 30929755 - 30961401 30961978 - 100422429 ABBA01038067;AL663093;AL669830;AL773541;AMYH02013439;CR759747;CR759772;CT009610;NG_025807 pseudo HGNC:45166 INFERRED 733353 NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2011] 19 19 19 q13.33 44796651 44824202 - 47990891 48018515 - 47487634 47515258 - 737787;1580863;6480464 12016511 10075705;10683148;11031247;11252894;12477932;1315316;15029241;15272311;15327778;15489334;15542541;15790807;15980433;1601890;16189514;16354670;17255364;19056867;19738201;19946888;20089838;20562859;20639865;21139048;21832049;21890473;21906983;21931730;21963094;22053931;22194596;22485163;22623428;22939629;23000965;23187805;23383273;24250222;24311785;24332808;24457600;24816145;25015289;7553862;7622514;8455721;8636227;9269766;9325254;9349823;9362506;9417091;9506515;9507000;9614193;9697855;9817754 8775 M0QZM9;M0QZN5;M0R027;M0R031;M0R058;M0R0I4;M0R0Y2;M0R213;M0R2M1;P54920 AA542963;AA807920;ABBA01041040;ABBA01041041;AC073548;AK098401;AK126519;AK292244;AK308633;AK310114;AK310185;AMYH02036261;AMYH02036262;AW206113;AY927609;BC001165;BC007432;BC028234;BC091511;BQ948081;BT019568;BU168063;CH471126;CX873074;NM_003827;NR_038456;NR_038457;U39412;XM_006723454;XM_006723455;XM_006723456 AAC80170;AAH01165;AAH07432;AAH28234;AAH91511;AAV38375;BAF84933;EAW57489;EAW57490;EAW57491;EAW57492;EAW57493;EAW57494;EAW57495;EAW57496;EAW57497;EAW57498;NP_003818;P54920;XP_006723517;XP_006723518;XP_006723519 Hs.730799;Hs.744881 1778781;1856436;2131747 RH11568;RH15934;STS-R61534 SNAP-alpha;alpha-SNAP SNAPA;alpha-soluble NSF attachment protein APPROVED protein-coding ENSG00000105402 HGNC:7641 04447 603215 REVIEWED 1313394 NAP1L4 nucleosome assembly protein 1-like 4 This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 2999494 3047467 - 2965660 3013607 - 2944430 2992377 - 1580863;6480464 10764593;11073993;12089333;12477932;12783858;14702039;15368365;15489334;16565220;17081983;18281699;19135240;19322201;20002496;20201924;20360068;20644730;20705733;21139048;21145461;21333655;21890473;21906983;21963094;22174317;22190034;22505724;22810585;22863883;22939629;23000965;23443559;23667531;24250222;24583282;24778252;24816145;8923002;9325046 4676 A8MXH2;C9J1B1;C9J6D1;C9JZI7;E9PJJ2;E9PKI2;E9PKT8;E9PNJ7;E9PNW0;E9PP22;E9PS34;H0YCI4;Q99733 AA573896;AB362575;AB500094;ABBA01032074;ABBA01032075;ABBA01032076;AC001228;AC131971;AK056828;AK093928;AK095320;AK299515;AK312599;AK316242;AK316324;AK316548;AMYH02024200;BC022090;CH471158;NM_005969;U51281;U77456 AAC50870;AAH22090;ABW03535;ABW03840;BAF81540;BAG35491;BAG61467;BAH14613;BAH14695;BAH14919;BAH95827;EAX02532;EAX02533;EAX02534;NP_005960;Q99733 Hs.731784 1666032;1677879;1713521;1723085;1791772;1850728;2132707;2164420;2168789;5106923 A008B39;D11S4032;PMC124986P3;RH120245;RH121981;RH44269;RH45905;RH78061;WI-16820;WI-20257 MGC4565;NAP-2;NAP1L4b;NAP2;NAP2L;hNAP2 OTTHUMP00000012671;OTTHUMP00000012729;nucleosome assembly protein 1-like 4b;nucleosome assembly protein 2 APPROVED protein-coding ENSG00000205531 HGNC:7640 11873 601651 REVIEWED 1344768 NAPSB napsin B aspartic peptidase, pseudogene INTERACTS WITH (-)-demecolcine; 17beta-estradiol; formaldehyde 19 19 19 q13.33 47887307 47898255 - 50837057 50848005 - 50333800 50344748 - 1580863;6480464 10591213;12151090;12477932;23333608;9877162 256236 ABBA01068328;AC008655;AF090387;AF098485;AF200344;AK300884;AK310134;AMYH02036347;BC006149;BC019048;BC032360;BC040958;BC053864;BC065203;BC085008;BC111705;NR_002798 AAF17080;BAG62526 Hs.636624 NAP1L;NAP2;NAPB;NAPSBP APPROVED pseudo ENSG00000131401 HGNC:13396 PROVISIONAL 1320824 NAPG N-ethylmaleimide-sensitive factor attachment protein, gamma This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008] 18 18 18 p11.22 10408741 10435632 + 10525873 10552766 + 10525876 10552769 + 1580863;6480464 10683148;11278501;12477932;12554740;1315316;14702039;15489334;15592455;1601890;16344560;16395123;17207965;17897319;19056867;19322201;19328558;19429185;19738201;20205790;20562859;21139048;21866343;22113424;22939629;24250222;24816145;8455721;8619474;8889548;9110174;9165027;9269766 8774 J3KTJ6;J3QKW4;J3QS28;Q6FHY4;Q99747 ABBA01049970;ABBA01049971;AF131752;AK023725;AK126942;AK294038;AK314495;AMYH02034296;AP001099;BC001889;CA312045;CH471113;CK005676;CR536554;DA296597;NM_003826;U78107 AAB69753;AAH01889;ADQ32289;BAG37095;BAG57390;CAG38791;EAX01582;EAX01583;EAX01584;NP_003817;Q99747 Hs.464622 1664551;1673002;2131975;2144652 A002Y38;BCD3273;SHGC-32282;STS-AA010503 GAMMASNAP SNAP-gamma;gamma SNAP;gamma-soluble NSF attachment protein;soluble NSF attachment protein APPROVED protein-coding ENSG00000134265 HGNC:7642 04448 603216 REVIEWED 1347374 NAPSA napsin A aspartic peptidase The activation peptides of aspartic proteinases plays role as inhibitors of the active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The pronapsin A gene is expressed predominantly in lung and kidney. Its translation product is predicted to be a fully functional, glycosylated aspartic proteinase precursor containing an RGD motif and an additional 18 residues at its C-terminus. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 47911985 47919182 - 50861734 50868931 - 50358477 50365674 - 1580863;6480464 10580105;10580106;10591213;12151090;12477932;12698189;13129928;14702039;14766755;15048123;18195689;18216060;19056867;19740516;20830690;21139048;21164283;21464700;21717589;21838611;22156835;22198009;22288963;22418245;22495379;22914608;23194051;23333608;23355200;23503645;23681073;23899066;24145649;24191930;24250222;24331839;8163018;9561193;9877162 9476 M0QXC5;O96009 ABBA01068328;AC008655;AF090386;AF098484;AF200345;AK055569;AK308013;AK314364;AMYH02036348;BC017842;BC029397;CH471135;NM_004851 AAD04917;AAD13215;AAF17081;AAH17842;ABM82919;ABM86109;EAW71847;EAW71848;EAW71849;NP_004842;O96009 Hs.512843 1767369 G16018 ASP4;KAP;Kdap;NAP1;NAPA;TA01/TA02;asp 4 SNAPA;aspartyl protease 4;kidney-derived aspartic protease-like protein;napsin-1;napsin-A;pronapsin A APPROVED protein-coding ENSG00000131400 HGNC:13395 07064 605631 REVIEWED 1603533 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM, Oct 2008] 7 7 7 q22.1 97547949 97597471 - 102740023 102791081 - 103099576 103150631 - 6480464;8554872 12477932;14634025;14702039;15820312;17207965;18067139;19056867;19715685;20369362;20885390;21251115;21890473;21906983;22827915;23000965;23080069;23122699;24018423;24816145 222236 C9JGB1;H0Y4Y2;Q6IQ20 AB112352;ABBA01057995;AC007683;AC216130;AK023244;AK304644;AMYH02016449;AY357337;BC037350;BC057294;BC071604;CH471070;CR936639;HH770856;NM_001122838;NM_198990;XM_005250214;XM_005250215;XM_005250216;XM_005250217;XM_005250218;XM_006715899;XM_006725052;XM_006725053;XM_006725054;XM_006725055;XM_006725056 AAH37350;AAH71604;AAR13673;ADQ31931;BAD02399;BAG65422;CAI56779;CBX86138;EAW83314;EAW83315;NP_001116310;NP_945341;Q6IQ20;XP_005250271;XP_005250272;XP_005250273;XP_005250274;XP_005250275;XP_006715962;XP_006725115;XP_006725116;XP_006725117;XP_006725118;XP_006725119 Hs.324271 1652641;2120594;2180604;2180606;5127620 A005K35;G20289;GDB:1317784;RH77969;STS-N40212 DKFZp781D1098;FMP30;NAPE-PLD N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D;NAPE-hydrolyzing phospholipase D;OTTHUMP00000211696;OTTHUMP00000211697;OTTHUMP00000211698;OTTHUMP00000211699;OTTHUMP00000211700;OTTHUMP00000211703 APPROVED protein-coding ENSG00000161048 HGNC:21683 14809 612334 VALIDATED 1602193 NAPRT nicotinate phosphoribosyltransferase Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008] 8 8 8 q24.3 140967186 140970744 - 144656955 144660881 - 143574785 143578351 - 6480464;6907045;8554872 12477932;14702039;14704851;15146197;17604275;18029348;18821565;19056867;21492230;21742010;21906983;21963094;21987572;22505724;22570471;22863883;22939629;24097869;24816145 93100 C9J8U2;G5E977;H0YDA6;H0YF31;Q6XQN6 AB242230;ABBA01005247;AC067930;AF258565;AK097002;AMYH02018944;AY214325;AY214326;AY214327;BC006284;BC014190;BC032466;CH471162;CN260784;NM_001286829;NM_145201 AAG23768;AAH06284;AAH32466;AAP69603;AAP69604;AAP69605;BAF75377;EAW82236;EAW82237;EAW82238;EAW82239;EAW82240;NP_001273758;NP_660202;Q6XQN6 Hs.493164 NAPRT1;PP3856 FHA-HIT-interacting protein;NAPRTase;OTTHUMP00000211079;OTTHUMP00000211080;OTTHUMP00000211081;OTTHUMP00000211082;nicotinate phosphoribosyltransferase domain containing 1;nicotinate phosphoribosyltransferase domain-containing protein 1;nicotinic acid phosphoribosyltransferase APPROVED protein-coding ENSG00000147813 HGNC:30450 15161 611552 VALIDATED 5684564 NARF-IT1 NARF intronic transcript 1 (non-protein coding) 17 80439974 80441264 + 100506001 XR_109348 NARF-OT1 APPROVED ncrna HGNC:43651 1317299 NAPB N-ethylmaleimide-sensitive factor attachment protein, beta ENCODES a protein that exhibits syntaxin binding (inferred); INVOLVED IN intracellular protein transport (inferred); regulation of synaptic vesicle priming (inferred); SNARE complex disassembly (inferred); ASSOCIATED WITH Brachial Plexus Neuritis (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 20 20 20 p12.3-p11.21 23428529 23475530 - 23355156 23402156 - 23374519 23421519 - 737634;1580863;6480464;7240710 8455721 11780052;12477932;1315316;14702039;15489334;17207965;19322201;20639865;21890473;21906983;21963094;21988832;23000965;24250222;24722188;9697855;9817754 63908 Q9H115 ABBA01016177;AI285959;AK022817;AK124876;AK125811;AK126340;AK294703;AK295791;AK296385;AK307709;AL096677;AL834445;AMYH02036833;BC008463;BC026310;BC047426;BC060840;BX648330;CH471133;DC335439;NM_001283018;NM_001283020;NM_001283026;NM_022080;NR_104266 AAH47426;AAH60840;ACE86979;ACE87668;ADQ33036;BAG57860;BAG58612;BAG59056;CAD39105;EAX10150;EAX10151;EAX10152;EAX10153;EAX10154;EAX10155;EAX10156;EAX10157;NP_001269947;NP_001269949;NP_001269955;NP_071363;Q9H115 Hs.269471 1653192;1656690;1660749;1756777;2126481;2166722;2175839;5022578;5022651;5024039;5037552 1840;D11S2921;D16S325;D1S1423;D8S2279;RH11675;RH46032;SGC31306;SHGC-143910;WI-14380;WI-14607 MGC26066;MGC48335;SNAP-BETA;SNAPB OTTHUMP00000030424;beta-soluble NSF attachment protein protein-coding ENSG00000125814 HGNC:15751 17627 162100;611270 VALIDATED 1346243 NARSP1 asparaginyl-tRNA synthetase pseudogene 1 14 14 14 q12 11620824 11624079 + 31755322 31758577 + 31286116 31289371 + 319127 ABBA01061417;AL136418;AL139353;AMYH02028953;NG_002505 NARSP APPROVED pseudo HGNC:19933 INFERRED 2305802 NAP1L6 nucleosome assembly protein 1-like 6 INVOLVED IN nucleosome assembly (inferred); FOUND IN nucleus (inferred); INTERACTS WITH phenytoin (ortholog); thioacetamide (ortholog); tunicamycin (ortholog) X X X q13.2 72629394 72631440 - 72345876 72347919 - 73126037 73128080 - 6480464 14702039;15772651 645996 A6NFF2 ABBA01059709;AC004389;AK090915;AL662864;AMYH02039769;NG_021429;NR_027291 A6NFF2 Hs.617486 1702358;1702868;2142916;5015619;5037552 D11S3114;D8S2279;L77274;UniSTS:99285;UniSTS:99626 FLJ33596 pseudo ENSG00000204118 HGNC:31706 VALIDATED 8655372 NARSP2 asparaginyl-tRNA synthetase pseudogene 2 8 8 8 q12.3 59013439 59014117 + 63023083 63023761 + 62110524 62111202 + 100287895 ABBA01041830;AC104852;AMYH02018065;NG_022421 pseudo HGNC:50481 INFERRED 1605690 NARF nuclear prelamin A recognition factor Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 77007484 77037920 + 80415611 80446143 + 82458184 82488267 + 6480464;8554872 10514485;12477932;14702039;15667261;16344560;17207965;17326827;17652517;17654502;17709742;18680752;20379614;20562864;20970119;2123808;21832049;21906983;22678362;24250222;24394665;24515614;24816145 26502 B4DZZ6;E7EP87;E9PH27;J3KRH7;J3KS03;J3KS48;J3KT43;J3KTG5;J3KTP5;J3QL28;J3QLT6;J3QRB0;J3QSD9;Q9UHQ1 AA568571;ABBA01019680;ABBA01019681;ABBA01019682;AC124287;AC132938;AF128406;AK000929;AK056966;AK093717;AK297875;AK303155;AL137729;AMYH02034157;AMYH02034158;BC000438;BC016440;BQ228233;CH471099;DA695448;DB123829;EF601655;EF601656;NM_001038618;NM_001083608;NM_012336;NM_031968;XM_005256340;XM_006722278 AAD51446;AAH00438;AAH16440;ACH58579;ACH58580;ADQ32705;BAA91432;BAG51834;BAG52753;BAG60200;BAG64258;EAW89794;EAW89795;EAW89798;NP_001033707;NP_001077077;NP_036468;NP_114174;Q9UHQ1;XP_005256397;XP_006722341 Hs.256526;Hs.600304 1683617;1717667;5016478;5022578;5022651 D11S2921;D1S1423;GDB:434012;RH122138;RH80149 DKFZp434G0420;FLJ10067;IOP2 iron-only hydrogenase-like protein 2;prenyl-dependent prelamin A binding protein APPROVED protein-coding ENSG00000141562 HGNC:29916 05637 605349 REVIEWED 1316312 NARS asparaginyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008] 18 18 18 q21.31 51984720 52006007 - 55267888 55289177 - 57600656 57621945 - 1580863;6480464 12477932;15231747;15489334;16196087;16713569;18029348;18781797;19056867;19738201;20877624;21139048;21890473;21906983;21963094;22174317;22586326;22863883;22939629;23000965;23752268;24816145;25027693;6836455;8125298;8619474;9110174;9421509;9801298 4677 B4DN60;K7EIU7;K7EJ19;K7EMQ6;K7ENF0;K7EPK2;K7EQ35;O43776 ABBA01056131;AC027097;AC100847;AJ000334;AK129897;AK222835;AK293985;AK294364;AK294763;AK297777;AMYH02034793;AMYH02034794;BC001687;CH471096;D84273;DC302277;NM_004539;U79254;XM_005266700 AAH01687;BAA34600;BAD96555;BAG57352;BAG57627;BAG57897;BAG60122;CAA04008;EAW63048;EAW63049;NP_004530;O43776;XP_005266757 Hs.465224 1662964;1666873;1778944;2110979;2150034 A002F37;D18S373E;D18S925E;RH35852;T16130 ASNRS;NARS1 asparagine tRNA ligase 1, cytoplasmic;asparagine--tRNA ligase;asparagine--tRNA ligase, cytoplasmic;asparaginyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000134440 HGNC:7643 00154 108410 VALIDATED 1351106 NASPP1 nuclear autoantigenic sperm protein pseudogene 1 8 8 8 q12 57839279 57842298 - 61849507 61852537 - 60936948 60939978 - 11674998 282694 ABBA01041818;AC022182;AMYH02018061;NG_002431 1645555;1857801 RH66614;RH71394 pseudo HGNC:29910 INFERRED 1601749 NAT14 N-acetyltransferase 14 (GCN5-related, putative) ENCODES a protein that exhibits DNA binding (inferred); N-acetyltransferase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper atom; copper(0); quercetin 19 19 19 q13.42 53036524 53038865 + 55996557 55998935 + 55485190 55487568 + 6480464 10873651;11779635;12477932;16341674;17207965;19807691;21139048;21900206;21988832;8889548 57106 M0QZH3;M0R1E3;M0R284;Q8WUY8 AB038651;AB055059;ABBA01020870;AC008735;AF086533;AMYH02036468;BC019079;BM785191;BU730663;CH471135;NG_027671;NM_020378 AAH19079;ADQ33171;BAB03716;BAB85857;EAW72385;EAW72386;NP_065111;Q8WUY8 Hs.31854;Hs.745066 1689191;1694424;2134511 G42907;RH77907;RH91819 KLP1 K562 cell-derived leucine-zipper-like protein 1;K562 cells-derived leucine zipper-like protein 1;K562 cells-derived leucine-zipper-like protein 1;N-acetyltransferase 14 protein-coding ENSG00000090971 HGNC:28918 10036 VALIDATED 1605947 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial (putative) ENCODES a protein that exhibits asparagine-tRNA ligase activity (ortholog); INVOLVED IN asparaginyl-tRNA aminoacylation (ortholog); FOUND IN mitochondrion (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; benzo[a]pyrene 11 11 11 q14.1 75455482 75594400 - 78147007 78285909 - 78435961 78574864 - 6480464 12477932;14702039;15342556;15489334;15779907;16344560;20379614;20877624;22190034;24250222;8125298 79731 B3KPX5;E9PRK2;H0YE96;H0YEL9;Q96I59;Q9H5H1 ABBA01017400;ABBA01017401;ABBA01017402;AK027094;AK056980;AK225444;AK315425;AMYH02025151;AMYH02025152;AMYH02025153;AP003086;AP003110;AW968557;BC007800;BM023108;BP196275;BP199309;CH471076;DA509243;DB565980;KF455423;KF455424;KF511161;NM_001243251;NM_024678 AAH07800;BAB15655;BAG37813;BAG51837;EAW75061;EAW75062;EAW75063;NP_001230180;NP_078954;Q96I59 Hs.503389 1658535;1665283 D11S1937E;WI-11419 FLJ23441;SLM5;asnRS OTTHUMP00000234023;OTTHUMP00000234024;asparagine tRNA ligase 2, mitochondrial (putative);asparagine--tRNA ligase;probable asparagine--tRNA ligase, mitochondrial;probable asparaginyl-tRNA synthetase, mitochondrial protein-coding ENSG00000137513 HGNC:26274 08026 612803 VALIDATED 1314335 NARFL nuclear prelamin A recognition factor-like ENCODES a protein that exhibits 4 iron, 4 sulfur cluster binding (inferred); metal ion binding (inferred); INVOLVED IN iron-sulfur cluster assembly; oxygen homeostasis; regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN CIA complex; INTERACTS WITH atrazine; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 979932 991162 - 779753 790997 - 729753 740997 - 6480464;8554872 11157797;12477932;14702039;16956324;18270200;19864422;20881960;21832049;21906983;22678362;23585563;23891004;24250222;8125298 64428 B4DEE7;H3BPX8;H3BQ03;H3BSH2;H3BSJ7;H3BUF3;I3L2A3;Q9H6Q4 ABBA01030350;ABBA01030351;ABBA01030352;AE006464;AK025641;AK025861;AK056467;AK094812;AK095675;AK126151;AK223005;AK293591;AK300087;AK301023;AK310875;AMYH02031205;AY129231;BC030248;BC129940;CH471112;KF456140;NM_022493;XM_005255500;Z98258 AAH30248;AAI29941;AAK61251;AAM98737;BAB15199;BAB15261;BAD96725;BAG51721;BAG53105;BAG57058;BAG61890;BAG62639;EAW85722;EAW85723;EAW85724;NP_071938;Q9H6Q4;XP_005255557 Hs.513247 1729807;5015881;5020948;5118800 D11S3663;D16S314;G35510;GDB:335751 FLJ21988;HPRN;IOP1;LET1L;PRN LET1 like/JFP15;OTTHUMP00000151179;cytosolic Fe-S cluster assembly factor NARFL;iron-only hydrogenase-like protein 1;nuclear prelamin A recognition factor-like protein;protein related to Narf protein-coding ENSG00000103245 HGNC:14179 14810 611118 PROVISIONAL 1605376 NAT10 N-acetyltransferase 10 (GCN5-related) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN metabolic process (inferred); PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 11 11 11 p13 34274652 34316002 + 34127111 34172581 + 34105564 34151034 + 6480464;6907045;8554872 11076863;11214970;11230166;12429849;12477932;14592445;14702039;15146197;15489334;15489336;15848144;16196087;16381901;16751776;17180247;17353931;17631499;18082603;18677378;18954305;19303003;19343720;19454010;19596686;19738201;19946888;21139048;21145461;21177859;21182205;21252943;21890473;21906983;21963094;22174317;22586326;22623428;22939629;22952844;24457600;24816145;25027693;8125298 55226 E9PJN6;E9PMU0;Q9H0A0 AB051496;ABBA01060874;ABBA01060875;AC090469;AF489535;AK001636;AK022241;AK074430;AK225341;AK294044;AL136882;AMYH02024577;BC014440;BC020205;BC035558;BM988569;CH471064;CN336530;NM_001144030;NM_024662;XM_005252999 AAH20205;AAH35558;AAO49126;BAA91800;BAB13995;BAB21800;BAG57396;CAB66816;CAL37974;EAW68174;EAW68175;NP_001137502;NP_078938;Q9H0A0;XP_005253056 Hs.577281 2135483 WI-15813 ALP;DKFZp434C116;FLJ10774;FLJ12179;FLJ23850;KIAA1709;NET43 N-acetyltransferase 10;N-acetyltransferase-like protein;OTTHUMP00000232332;OTTHUMP00000232333 protein-coding ENSG00000135372 HGNC:29830 10964 609221 VALIDATED 1344668 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 8 8 8 p22 17033182 17047129 + 18027971 18081198 + 18170462 18223689 + 1298615;1580863;2303760;2317168;2317170;5131865;5131864;5131866;4140950;6480464;7240710;8552648;8552678;8552666;8552685;8699517 11266080;12037388;12355549;17290401;17487534;18006927;18258609;18499698;19663877;19834256;7773298;9626964 10409428;10767335;10791558;10862520;10908296;11034589;11291049;11393533;11422615;11431340;11470991;11470992;11487538;11532862;11719088;11751443;11895912;11927838;11955676;11955677;12052143;12074508;12088198;12135032;12139735;12143122;12376500;12419761;12477932;12485520;12537647;12552951;12631536;12682333;12692115;12718576;12832400;12835615;12860276;12879167;12888564;12902152;12946272;14517345;14564055;14608357;14634838;14672957;14705222;15039438;15064998;15090717;15090724;15095308;15123239;15127906;15136237;15142281;15197537;15226672;15256524;15320760;15466980;15487985;15489334;15523664;1559981;15637738;15688397;15717312;15725081;15725609;15736440;15746160;15770721;15784508;15853926;15901993;15959877;15987714;16003747;16006997;16049806;16112301;16399351;16416399;16434594;16459354;16471212;16507510;16680433;16740387;1676262;16788383;16847422;16906563;16926176;16959263;16981843;17026750;17036310;17191090;17207965;17259654;17392017;17522066;17537267;17564315;17564319;17591675;17646057;17656365;17675654;17700360;17726690;17909564;17973251;18022202;18069763;18090909;18199719;18207572;18259988;18262724;18268115;18288399;18322880;18365755;18372103;18447907;18449058;18503826;18510611;18544563;18569577;18569593;18569602;18636124;18818748;18990750;19019335;19074885;19143007;19177501;19273964;19368118;19379125;19420222;19527514;19549810;19561488;1968463;19692168;19751749;19789190;19809881;19822571;19898993;19913121;19956635;20029944;20032816;20099048;20100460;20131310;20140262;20173083;20176657;20180013;20214802;20437058;20468060;20570911;20628086;20628863;20634891;20701904;20819778;20931357;21080951;21139048;21290563;21347396;21837760;21878835;21995608;22010219;22114069;22327651;22333393;22686306;22905173;23160945;23168701;23173940;23183268;2340091;23420430;23517104;23569127;23660777;23772068;7627961;8110178;8442668;9168895;9173883;9511182;9511183;9682272 9 F5H5R8;P18440;Q400J6 ABBA01021574;ABBA01021575;AC124242;AF008204;AF032677;AF032678;AF067408;AF071552;AF082903;AF082904;AF308866;AJ278017;AJ307007;AJ581135;AJ581136;AJ581137;AJ581138;AJ581139;AJ581140;AJ581141;AJ581142;AJ581143;AJ581151;AJ581152;AJ581153;AJ581155;AJ581157;AK290912;AMYH02017545;AV754344;AY338489;AY376850;AY730684;AY800271;BC013732;BC047666;BG655073;BG941635;BM924372;BQ024509;BU753390;BX647521;CD702544;CH471080;D90041;DQ305816;DQ305817;DQ305818;DQ305819;DQ305820;DQ305821;DQ305822;DQ305823;DQ305824;DQ305825;DQ305826;DQ305827;DQ305828;DQ305829;DQ305830;DQ305831;DQ305832;DQ305833;DQ305834;DQ305835;DQ305836;DQ305837;DQ305838;DQ305839;DQ305840;DQ305841;DQ305842;DQ305843;DQ305844;DQ305845;DQ305846;DQ305847;DQ305848;DQ305849;DQ305850;DQ305851;DQ305852;DQ305853;DQ305854;DQ305855;DQ305856;DQ305857;DQ305858;DQ305859;DQ305860;DQ305861;DQ305862;DQ305863;DQ305864;DQ305865;DQ305866;DQ305867;DQ305868;DQ305869;DQ305870;DQ305871;DQ305872;DQ305873;DQ305874;DQ305875;DQ305876;DQ305877;DQ305878;DQ305879;DQ305880;DQ305881;DQ305882;DQ305883;DQ305884;DQ305885;DQ305886;DQ305887;DQ305888;DQ305889;DQ305890;DQ305891;DQ305892;DQ305893;DQ305894;DQ305895;DQ305896;DQ305897;DQ305898;DQ305899;DQ305900;DQ305901;DQ305902;DQ305903;DQ305904;DQ305905;DQ305906;DQ305907;DQ305908;DQ305909;DQ305910;DQ305911;DQ305912;DQ305913;DQ305914;DQ305915;DQ305916;DQ305917;DQ305918;DQ305919;DQ305920;DQ305921;DQ305922;DQ305923;DQ305924;DQ305925;DQ305926;DQ305927;DQ305928;DQ305929;DQ305930;DQ305931;DQ305932;DQ305933;DQ305934;DQ305935;DQ305936;DQ305937;DQ305938;DQ305939;DQ305940;DQ305941;DQ305942;DQ305943;DQ305944;DQ305945;DQ305946;DQ305947;DQ305948;DQ305949;DQ305950;DQ305951;DQ305952;DQ305953;DQ305954;DQ305955;DQ305956;DQ305957;DQ305958;DQ305959;DQ305960;DQ305961;DQ305962;DQ305963;DQ305964;DQ305965;DQ305966;DQ305967;DQ305968;DQ305969;DQ305970;DQ305971;DQ305972;DQ305973;DQ305974;DQ305975;HB919748;HB961362;HC977157;HD018772;KC877218;KC877219;NG_012245;NM_000662;NM_001160170;NM_001160171;NM_001160172;NM_001160173;NM_001160174;NM_001160175;NM_001160176;NM_001160179;NM_001291962;S78829;U80835;X17059;XM_006716410 AAB62398;AAB84384;AAB86878;AAB86879;AAC24707;AAC24712;AAC32388;AAD13343;AAG23842;AAH47666;AAP88036;AAQ74989;AAV50002;AAX22230;ABC26192;ABC26193;ABC26194;ABC26195;ABC26196;ABC26197;ABC26198;ABC26199;ABC26200;ABC26201;ABC26202;ABC26203;ABC26204;ABC26205;ABC26206;ABC26207;ABC26208;ABC26209;ABC26210;ABC26211;ABC26212;ABC26213;ABC26214;ABC26215;ABC26216;ABC26217;ABC26218;ABC26219;ABC26220;ABC26221;ABC26222;ABC26223;ABC26224;ABC26225;ABC26226;ABC26227;ABC26228;ABC26229;ABC26230;ABC26231;ABC26232;ABC26233;ABC26234;ABC26235;ABC26236;ABC26237;ABC26238;ABC26239;ABC26240;ABC26241;ABC26242;ABC26243;ABC26244;ABC26245;ABC26246;ABC26247;ABC26248;ABC26249;ABC26250;ABC26251;ABC26252;ABC26253;ABC26254;ABC26255;ABC26256;ABC26257;ABC26258;ABC26259;ABC26260;ABC26261;ABC26262;ABC26263;ABC26264;ABC26265;ABC26266;ABC26267;ABC26268;ABC26269;ABC26270;ABC26271;ABC26272;ABC26273;ABC26274;ABC26275;ABC26276;ABC26277;ABC26278;ABC26279;ABC26280;ABC26281;ABC26282;ABC26283;ABC26284;ABC26285;ABC26286;ABC26287;ABC26288;ABC26289;ABC26290;ABC26291;ABC26292;ABC26293;ABC26294;ABC26295;ABC26296;ABC26297;ABC26298;ABC26299;ABC26300;ABC26301;ABC26302;ABC26303;ABC26304;ABC26305;ABC26306;ABC26307;ABC26308;ABC26309;ABC26310;ABC26311;ABC26312;ABC26313;ABC26314;ABC26315;ABC26316;ABC26317;ABC26318;ABC26319;ABC26320;ABC26321;ABC26322;ABC26323;ABC26324;ABC26325;ABC26326;ABC26327;ABC26328;ABC26329;ABC26330;ABC26331;ABC26332;ABC26333;ABC26334;ABC26335;ABC26336;ABC26337;ABC26338;ABC26339;ABC26340;ABC26341;ABC26342;ABC26343;ABC26344;ABC26345;ABC26346;ABC26347;ABC26348;ABC26349;ABC26350;ABC26351;ACE86961;ACE87651;ADQ33043;BAA14095;BAF83601;CAA34905;CAC01128;CAC38345;CAE46162;CAE46163;CAE46164;CAE46165;CAE46166;CAE46167;CAE46168;CAE46169;CAE46170;CBF94879;CBG15306;CBV08399;CBV28752;EAW63787;NP_000653;NP_001153642;NP_001153643;NP_001153644;NP_001153645;NP_001153646;NP_001153647;NP_001153648;NP_001153651;NP_001278891;P18440;XP_006716473 Hs.591847 1792838;1792840;1796386;2115845;2166020;2176123 NAT1_469;PMC165273P1;PMC165273P2;RH70671;STS-D90041;STS-R79401 AAC1;MNAT;NAT-1;NATI N-acetyltransferase type 1;OTTHUMP00000122488;OTTHUMP00000224577;OTTHUMP00000224578;OTTHUMP00000224579;arylamide acetylase 1;arylamine N-acetyltransferase 1;monomorphic arylamine N-acetyltransferase 2301749;2301750;2301751;2301752;2301753;2301754 PRSTS420_H;PRSTS421_H;PRSTS422_H;PRSTS423_H;PRSTS424_H;PRSTS425_H APPROVED protein-coding ENSG00000171428 HGNC:7645 00149 108345;604715 REVIEWED 1350744 NAT8 N-acetyltransferase 8 (GCN5-related, putative) This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008] 2 2 2 p13.2 73718675 73720362 - 73867850 73869537 - 73640723 73642410 - 1580863;6480464 11397015;1139715;12477932;15761153;18402670;19011241;20383145;20383146;20385109;20392701;21886157;21931564;22267734;23535967;23934736;9852678 9027 Q9UHE5 AB013094;AB019551;ABBA01075584;AC092653;AF187813;AMYH02004074;BC012626;BG426653;CH471053;CR407610;NM_003960 AAF22303;AAH12626;ADZ15800;BAA33679;BAA34386;CAG28538;EAW99727;NP_003951;Q9UHE5 Hs.14637 1696998;1796390 NAT8_959;RH101973 ATase2;CML1;GLA;Hcml1;TSC501;TSC510 N-acetyltransferase 8 (camello like);OTTHUMP00000202400;camello-like protein 1;kidney- and liver-specific gene product;probable N-acetyltransferase 8 APPROVED protein-coding ENSG00000144035 HGNC:18069 08413 606716 REVIEWED 1601690 NAT16 N-acetyltransferase 16 (GCN5-related, putative) ENCODES a protein that exhibits N-acetyltransferase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH fonofos; parathion; terbufos 7 7 7 q22.1 95822130 95831905 - 100813774 100823557 - 101170493 101180276 - 6480464;8554872 12477932;14702039;22607974;24121108;8889548 375607 C9JB11;Q8N8M0 ABBA01011346;ABBA01011347;ABBA01011348;AC004876;AK096556;AL831911;AMYH02016400;AMYH02016401;BC037583;BC104841;BU740913;CH471197;NM_198571;XM_005250325 AAI04842;BAC04815;CAD38574;EAW50202;NP_940973;Q8N8M0;XP_005250382 Hs.213044 2127385 SHGC-31034 C7orf52;DKFZp547K159;FLJ39237 OTTHUMP00000211483;OTTHUMP00000211485;putative N-acetyltransferase 16;putative N-acetyltransferase C7orf52 APPROVED protein-coding ENSG00000167011 HGNC:22030 13434 615783 VALIDATED 1350941 NAT6 N-acetyltransferase 6 (GCN5-related) This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011] 3 3 3 p21.3 50306664 50309543 - 50333833 50336852 - 50296402 50299421 - 1332585;1580863;6480464 11929860 10644992;11085536;12477932;15036368;15489334;15885884;16169070;16641997;18029348;19789190;21832049 24142 C9J451;C9JL88;Q6IAP1;Q93015 ABBA01024552;AF040705;AF040706;AK313803;AMYH02006767;BC004483;BC035689;BC051750;BM147777;BM989194;CH471055;CR457113;NM_001200016;NM_001200018;NM_012191;U73167;U90094 AAC02732;AAC70912;AAC70913;AAH04483;ACE87077;ACE87757;BAG36539;CAG33394;EAW65077;EAW65078;EAW65079;EAW65080;EAW65081;EAW65082;NP_001186945;NP_001186947;NP_036323;Q93015 Hs.129910;Hs.736942 1721471;1771356;1793740;1793742;1847897;2117658;2127395;2219818 D3S4188;G59589;HYAL1__6616;PMC26875P3;PMC26875P4;SHGC-76997;STS-U03056;WIAF-2197 FUS-2;FUS2 N-acetyltransferase 6;OTTHUMP00000211057;OTTHUMP00000211058;OTTHUMP00000211060;OTTHUMP00000211061;OTTHUMP00000211062;OTTHUMP00000211063;protein fusion-2;putative tumor suppressor APPROVED protein-coding ENSG00000243477 HGNC:30252 06148 607073 REVIEWED 1602409 NAT8L N-acetyltransferase 8-like (GCN5-related, putative) This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010] 4 4 4 p16.3 1973294 1982873 + 2061239 2070816 + 2059512 2069089 + 6480464;8699517;7240710;8554872 11397015;12477932;14702039;19524112;19807691;20385109;20643647;21936773;24155240;24246274 339983 Q8N9F0 ABBA01029521;AK094797;AL132868;AL137326;AMYH02008599;AMYH02008600;BC010045;BC093906;BC093908;BC103748;CH471131;NG_027961;NM_178557;XM_006710156;Z69638 AAH93906;AAH93908;AAI03749;BAC04426;EAW82541;NP_848652;Q8N9F0;XP_006710219 Hs.318529 1739329 D4S2774E CML3;DKFZp434B0650;DKFZp566H184;FLJ37478;Hcml3;MGC117272;NAT8-LIKE N-acetylaspartate synthetase;N-acetylaspartyl-glutamate synthetase;N-acetyltransferase 8-like protein;NAA synthetase;NAAGS;NACED;camello-like protein 3 APPROVED protein-coding ENSG00000185818 HGNC:26742 08224 610647;614063 REVIEWED 1605078 NAT8B N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) The protein encoded by this gene is highly similar to the N-acetyltransferase 8 (NAT8) gene product, which is a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and may represent a pseudogene of NAT8. This gene contains two polymorphic nonsense mutations that disrupt the active site of the protein. The full-length product of this gene contains a complete acetyltransferase domain and is identical in length to NAT8. [provided by RefSeq, Jul 2008] 2 2 2 p13.1 73778479 73779310 - 73927636 73928467 - 73700509 73701340 - 6480464;8554872 11397015;12477932;16395595;19011241;20383145;20383146;22267734 51471 Q9UHF3 ABBA01075584;AC092653;AF185571;AMYH02004075;BC069564;BC121101;BC121102;BX105650;CH471053;NM_016347 AAF22299;AAI60071;EAW99724;NP_057431;Q9UHF3 Hs.278983 5493967 UniSTS:480559 CML2;Hcml2;MGC97061;NAT8BP ATase1;N-acetyltransferase 8B (gene/pseudogene);N-acetyltransferase Camello 2;NAT8B {ECO:0000312|HGNC:HGNC:30235};acetyltransferase 1;camello-like protein 2;probable N-acetyltransferase 8B;putative N-acetyltransferase 8B APPROVED protein-coding ENSG00000204872 HGNC:30235 12188 608190 VALIDATED 1606417 NATD1 N-acetyltransferase domain containing 1 INTERACTS WITH coumestrol; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 p11.2 21384916 21400202 + 21142183 21156578 - 21238870 21253266 - 6480464 12477932 256302 Q8N6N6 ABBA01050461;AC087294;AK126856;AL359586;AMYH02033199;BC029527;BC044645;CH471210;CR749731;FJ695210;KF459695;NM_152914 AAH29527;BAG54382;EAX02600;NP_690878;Q8N6N6 Hs.654713 1678053;1730185;2128257;5037552 D17S1652E;D8S2279;RH80924;STS-AA035008 C17orf103;DKFZp761I1115;DKFZp762H185;Gtlf3b;MGC33894 gene trap locus F3b;transcript expressed during hematopoiesis 2 APPROVED protein-coding ENSG00000274180 HGNC:30770 17527 VALIDATED 1347562 NATP N-acetyltransferase pseudogene 8 8 8 p22 17193380 17195348 + 18227419 18229387 + 18369910 18371878 + 1298616 2340091 21995608;9284941 11 ABBA01021573;AC025062;AC120051;AMYH02017545;NG_004857;X17060 AACP;NATP1 APPROVED pseudo HGNC:15 INFERRED 6481364 NAV2-AS1 NAV2 antisense RNA 1 100874015 AC015684 APPROVED ncrna HGNC:40744 6481360 NAV2-AS2 NAV2 antisense RNA 2 p15.1 100874014 AC015684;BX112419;NR_046672 Hs.557916 APPROVED ncrna HGNC:40743 VALIDATED 6481357 NAV2-AS3 NAV2 antisense RNA 3 100874013 AC015684 APPROVED ncrna HGNC:40742 5132781 NAV2-AS4 NAV2 antisense RNA 4 ASSOCIATED WITH Lung Neoplasms (inferred) 11 11 11 p15.1 19665169 19678356 - 19532440 19545625 - 19510893 19524078 - 8554872 14702039 399876 ABBA01061037;AC023950;AK023501;AMYH02024407;HG503584;NG_030347;NR_033989 Hs.132600 1646184 RH36118 FLJ13439;RP11-808N1.2 APPROVED ncrna ENSG00000254622 HGNC:40741 VALIDATED 6481358 NAV2-AS5 NAV2 antisense RNA 5 11 11 p15.1 19524219 19528776 - 19502672 19507229 - 12477932 100874012 ABBA01061037;AC023950;AMYH02024407;BC040220;HG503582;NR_049725 Hs.434602 RP11-808N1.1 APPROVED ncrna ENSG00000255043 HGNC:40740 VALIDATED 6481019 NAV2-IT1 NAV2 intronic transcript 1 (non-protein coding) 100874305 AC113193;BC018444 Hs.551655 ncrna HGNC:41416 1606805 NAT9 N-acetyltransferase 9 (GCN5-related, putative) ENCODES a protein that exhibits N-acetyltransferase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN protein complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; quercetin 17 17 17 q25.1 69359866 69365650 - 72766686 72772534 - 74770547 74776395 - 6480464 11076863;11230166;11256614;12477932;14608357;15489336;15761153;16169070;16381901;16944568;19060904;19139211;20031577;21900206;21906983;21963094;24250222;8125298 26151 J3KRQ7;J3KSE9;J3KT72;J3QL33;J3QLF4;J3QQJ2;J3QQP3;J3QQR6;J3QRC3;J3QRL7;J3QS35;J3QSG9;Q9BTE0 ABBA01028827;AC016888;AK123115;AK225602;AK308569;AK312958;AL050269;AMYH02033980;AY632082;BC004195;BC004225;CH471099;NM_015654;XM_005257207;XM_005257212;XM_006721812;XM_006721813;XM_006721814;XM_006721815;XM_006721816;XR_243644 AAH04195;AAH04225;AAU25819;ACE86909;ACE87596;BAG35797;CAB43370;CAL37809;CAL38704;EAW89193;EAW89194;EAW89195;EAW89196;EAW89197;NP_056469;Q9BTE0;XP_005257264;XP_005257269;XP_006721875;XP_006721876;XP_006721877;XP_006721878;XP_006721879 Hs.144058 DKFZp564C103;EBSP;EBSP, hNATL N-acetyltransferase 9;embryo brain specific protein;embryo brain-specific protein protein-coding ENSG00000109065 HGNC:23133 13259 PROVISIONAL 1320655 NAV2 neuron navigator 2 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 11 11 11 p15.1 19505019 20275779 + 19372271 20143147 + 19350724 20121601 + 1580863;6480464;8554872 10718198;10737800;11904404;12062803;12079279;12168954;12214280;12477932;14702039;15031288;15158073;15489334;16189514;16964243;17081983;18029348;18937294;20379614;20936779;22174851;23251661;23703321;24161943;25065758;8889549 89797 A7E2D6;E9PLU3;E9PNV5;Q8IVL1 AA451836;AB037840;AB063115;AB063116;ABBA01061034;ABBA01061035;ABBA01061036;ABBA01061037;AC009549;AC015684;AC023950;AC090662;AC111163;AC113193;AF466143;AF466144;AJ488102;AJ488202;AJ488203;AJ488204;AJ488205;AJ488206;AJ488207;AJ488208;AK001892;AK074287;AK096037;AK290458;AK298346;AK307574;AMYH02024406;AMYH02024407;AMYH02024408;AMYH02024409;AMYH02024410;AMYH02024411;AMYH02024412;BC016054;BC107690;BC150290;BE818973;BI831180;BX459843;BX485661;CH471064;KF511142;NG_030347;NM_001111018;NM_001111019;NM_001244963;NM_145117;NM_182964;R23148;XM_005253214;XM_006718364;XM_006718365;XM_006718366;XM_006718367;XM_006718368;XM_006718369 AAH16054;AAI50291;AAL96479;AAL96480;ADZ15515;BAA91965;BAA92657;BAB85038;BAC00853;BAC00854;BAF83147;BAH12762;CAD32471;CAD32555;CAD32556;CAD32557;CAD32558;CAD32559;CAD32560;CAD32561;EAW68343;EAW68344;EAW68345;EAW68346;EAW68347;EAW68348;NP_001104488;NP_001104489;NP_001231892;NP_660093;NP_892009;Q8IVL1;XP_005253271;XP_006718427;XP_006718428;XP_006718429;XP_006718430;XP_006718431;XP_006718432 Hs.502116;Hs.639427;Hs.639428;Hs.64341 1336099;1336379;1338701;1644234;1646184;1662887;1674610;1678691;1679980;1681189;1698436;1698508;1712959;1715703;1719581;1720501;1727083;1728335;1737133;1737229;1737609;1737667;1738007;1743245;1754885;1757281;1764373;1767999;1774940;1778308;1782458;2124036;2129546;2141207;2151974;2154014;2154398;2165195;2169852;2172762;2179399;2186305;2187269;5121165;7183720;7186008 1654;D11S1034;D11S1062;D11S1075;D11S1308;D11S2034;D11S2296E;D11S2970;D11S3091;D11S3201;D11S3272;D11S3611;D11S4010;D11S4106;D11S4273;D11S899;G09854;G59204;G62943;G63449;GDB:312742;RH102763;RH102804;RH119298;RH120569;RH123694;RH12576;RH15864;RH26949;RH36118;RH45581;RH65895;RH70190;RH70750;RH79583;RH91544;SHGC-141815;SHGC-144693;SHGC-147968;SHGC-155714;SHGC-31021;SHGC-33456;STS-R52158;WI-12433 FLJ10633;FLJ11030;FLJ23707;FLJ77876;HELAD1;KIAA1419;POMFIL2;RAINB1;STEERIN2;UNC53H2 OTTHUMP00000200626;OTTHUMP00000200627;OTTHUMP00000200628;OTTHUMP00000231897;OTTHUMP00000232947;helicase APC down-regulated 1;helicase, APC down-regulated 1;pore membrane and/or filament interacting like protein 2;pore membrane and/or filament-interacting-like protein 2;retinoic acid inducible gene in neuroblastoma 1;retinoic acid inducible in neuroblastoma 1;steerin-2;unc-53 homolog 2 APPROVED protein-coding ENSG00000166833 HGNC:15997 07385 607026 REVIEWED 6481436 NBEA-AS1 NBEA antisense RNA 1 100873971 AL161902 APPROVED miscrna HGNC:39908 1605124 NASP nuclear autoantigenic sperm protein (histone-binding) This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008] 1 1 1 p34.1 44333703 44368554 + 46049660 46084578 + 45583988 45618906 + 6480464;9068945 23288364 10893414;10931132;11133655;11674998;12477932;12509435;1426632;14702039;14718166;15247327;15302935;15385968;15489334;15664198;16169070;16189514;16196087;16710414;16728391;16964243;17081983;17353931;18782834;19135240;19410544;19439102;19471022;20085707;20164540;20167597;20504901;21044950;21139048;21319273;21496299;21890473;21900206;21906983;21963094;21965532;21987572;22053931;22194605;22195965;22407294;22505724;22863883;2289010;2289011;22939629;22944692;22968912;23000965;23364796;23824909;24816145;24850914;24951090;3549279;8125298;8363049;8724350;8889548 4678 E9PAU3;E9PI86;E9PJQ2;E9PKR5;E9PNB5;E9PPQ8;E9PPR5;E9PQG5;E9PRH9;H0YDS9;H0YF33;P49321;Q5T624;Q5T626 ABBA01050862;ABBA01050863;AF035191;AK056161;AK092829;AK222778;AK222816;AK291637;AK298893;AK299584;AK308001;AL355480;AL512718;AL571577;AMYH02000935;BC003113;BC009933;BC010105;BC011580;BC053608;BT006757;CH471059;CK300084;CX781565;DC361634;M97856;NG_029224;NM_001195193;NM_002482;NM_152298;XM_005270888;XM_005270889 AAA36027;AAD02006;AAH03113;AAH09933;AAH10105;AAH11580;AAH53608;AAP35403;ABM84201;ABM87605;BAD96498;BAD96536;BAF84326;BAG61005;BAG61519;EAX06964;EAX06965;EAX06966;EAX06967;EAX06968;EAX06969;NP_001182122;NP_002473;NP_689511;P49321;XP_005270945;XP_005270946 Hs.319334 1645555;1857801;5015861;5015881;5020946;5021228;5022578;5124554;5491736;7185938 D10S16;D1S1423;GDB:312794;GDB:335751;L17971;NASP;RH66614;RH71394;RH98740 DKFZp547F162;FLB7527;FLJ31599;FLJ35510;MGC19722;MGC20372;MGC2297;PRO1999 N1/N2-like;OTTHUMP00000009508;OTTHUMP00000009509;OTTHUMP00000009511;OTTHUMP00000009512;OTTHUMP00000009513;OTTHUMP00000231458;histone H1-binding protein;nuclear autoantigenic sperm protein APPROVED protein-coding ENSG00000132780 HGNC:7644 04423 603185 REVIEWED 1314915 NAV3 neuron navigator 3 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] 12 12 12 q14.3 77890812 78272363 + 78224685 78606790 + 77325000 78213012 + 1580863;6480464;8554872 10231032;12062803;12079279;12477932;14702039;15158073;18337827;18509363;19247474;19505873;19626031;19850743;19913121;20379614;20628086;20707712;20936779;21995814;22173670;23049088;23097141;24057671;25065758;8889548 89795 B4DH94;F8VZV4;H0YHA8;H0YHX7;H0YI04;H0YI14;Q8IVL0 AB023155;ABBA01053525;ABBA01053526;ABBA01053527;ABBA01053528;AC068771;AC068800;AC073528;AC073571;AC073591;AC073608;AC073907;AC078822;AC090020;AC138331;AF397731;AJ488201;AK022070;AK294988;AK298525;AMYH02026799;AMYH02026800;AV728995;BC017667;BM684673;CH471054;DR005268;KF455673;KF455674;KF455677;NM_001024383;NM_014903;XM_005269215;XM_006719675;XM_006719676;XM_006719677 AAH17667;AAI56504;AAI72529;AAM73757;BAA76782;BAG58055;BAG60728;CAD32554;EAW97341;EAW97342;NP_001019554;NP_055718;Q8IVL0;XP_005269272;XP_006719738;XP_006719739;XP_006719740 Hs.655301 1646547;1699948;1726395;1734650;1739383;1782688;1782692;1782788;2111001;2126511;2160390 D12S1376E;D12S2006;D12S277E;D19S653E;G62498;L17987;RH103582;RH46017;SHGC-154971;SHGC-155034;SHGC-79622 KIAA0938;POMFIL1;STEERIN3;unc53H3 OTTHUMP00000242595;OTTHUMP00000242596;OTTHUMP00000242598;pore membrane and/or filament interacting like protein 1;pore membrane and/or filament-interacting-like protein 1;steerin 3;steerin-3;unc-53 homolog 3 APPROVED protein-coding ENSG00000067798 HGNC:15998 10114 611629 VALIDATED 1349211 NBEAL1 neurobeachin-like 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; coumestrol 2 2 2 q33.2 197632559 197835669 + 203879597 204091101 + 203014874 203226352 + 6480464;8554872 10737800;11586298;12477932;14702039;15193433;16344560;21139048;23251661;24250222 65065 H7BZA0;H7C3C8;Q6ZS30 AB053318;AB053319;ABBA01062593;ABBA01062594;ABBA01062595;ABBA01062596;ABBA01062597;ABBA01062598;ABBA01062599;ABBA01062600;ABBA01062601;ABBA01062602;AC010900;AC011737;AC023271;AK127772;AK128636;AK130065;AMYH02005586;AMYH02005587;AMYH02005588;AMYH02005589;AMYH02005590;AMYH02005591;AMYH02005592;AW028696;AW809287;AY172970;BC132950;BC137214;BC144532;BC144533;BX647133;CV310362;DA701100;DR731376;DV080127;DV080228;DV080354;DV080456;NM_001114132;XM_005246787;XM_005246788;XM_006712698;XM_006712699;XM_006712700;XM_006712701;XM_006712702 AAI32951;AAI37215;AAI66673;AAO45288;BAB69026;BAB69027;BAC85289;BAC87125;BAC87543;NP_001107604;Q6ZS30;XP_005246844;XP_005246845;XP_006712761;XP_006712762;XP_006712763;XP_006712764;XP_006712765 Hs.648846 1728879;1754631;2106417;2116037;2120246;2129194 ALS2CR17__4287;G54495;RH68899;RH69596;SHGC-132979;SHGC-58274 A530083I02Rik;ALS2CR16;ALS2CR17;FLJ22838;FLJ26555;MGC164581;MGC168834 OTTHUMP00000205117;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein;beach;neurobeachin-like protein 1 protein-coding ENSG00000144426 HGNC:20681 14811 609816 VALIDATED 1347119 NBEAP1 neurobeachin pseudogene 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 15 15 15 q11.2 967 1143 - 20874797 20961480 - 20669468 20756151 - 6480464;8554872 12160729;14702039;16344560;16572171;9159141 606 P0C6P0 ABBA01152427;ABBA01177132;AC012414;AC131280;AL832227;AMYH02029988;AMYH02029989;DA278599;NR_027992 P0C6P0 Hs.657985 1651687;1676382;1689716;1691014;1694728;1717475;1745163;5093178 G30964;G32566;GDB:595844;RH11274;RH121965;RH122243;RH67257;RH70587 BCL8;BCL8A APPROVED pseudo HGNC:1007 601889 VALIDATED 5131736 NBEAP2 neurobeachin pseudogene 2 2 2 2 126210419 126219705 + 132485649 132494259 + 131728076 131736686 + 12160729 100418881 ABBA01028227;AC093724;AC244624;NG_023729 BCL8D pseudo HGNC:40003 INFERRED 5131737 NBEAP3 neurobeachin pseudogene 3 22 22 16101279 16124973 - 15852990 15876684 + 12160729 100418905 AMYH02037967;AP000523;NG_027403 BCL8C pseudo HGNC:40004 INFERRED 1323716 NBEA neurobeachin This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011] 13 13 13 q13 16583420 17313776 + 35516424 36246874 + 34942287 35672737 + 1580863;6480464;8554872 10501977;10997877;11102458;12160729;12234919;12746398;14702039;15188402;16169070;16344560;17043677;17474147;19086053;19135901;19913121;20041166;20200978;20628086;21139048;21890473;21906983;22438821;22745750;22869583;23022380;23383273;23793025;24250222;24816145;8889548 26960 B3KXQ8;F5GXV7;Q5T321;Q8NFP9 AB046764;ABBA01010166;ABBA01010167;ABBA01010168;ABBA01010169;ABBA01010170;AF072371;AF467288;AK001059;AK091469;AK122888;AK127791;AK294737;AK297773;AK315939;AL137748;AL138690;AL139083;AL159160;AL161718;AL161902;AL356430;AL357083;AL390071;AMYH02027854;AMYH02027855;AMYH02027856;AMYH02027857;AMYH02027858;BU736721;BX640760;CH471075;DA248291;NG_028156;NM_001204197;NM_015678;XM_005266346;XM_005266347;XM_005266348;XM_005266350;XM_005266351;XM_005266352;XM_006719803;XM_006719804;XM_006719805;XM_006719806 AAD41633;AAI72597;AAM53531;BAA91485;BAB13370;BAG52368;BAG53781;BAG54570;BAH11865;BAH12663;BAH14310;CAB70903;CAE45866;EAX08541;EAX08542;EAX08543;EAX08544;EAX08545;NP_001191126;NP_056493;Q8NFP9;XP_005266403;XP_005266404;XP_005266405;XP_005266407;XP_005266408;XP_005266409;XP_006719866;XP_006719867;XP_006719868;XP_006719869 Hs.491172 1646137;1676468;1714397;1723829;1729940;1782980;1797076;2108223;2132838;2132840;2177716;2187261;5017931 A001W40;AU151351;D13S127;D13S758;G09543;G19728;MAB21L1_8448;Nbea;RH118650;RH120191;RH80830;SHGC-81512;T03409 BCL8B;LYST2 OTTHUMP00000018239;lysosomal trafficking regulator 2;lysosomal-trafficking regulator 2 APPROVED protein-coding ENSG00000172915 HGNC:7648 05352 604889 REVIEWED 1315590 NAV1 neuron navigator 1 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 1 1 1 q32.3 174741322 174919920 + 201508243 201796102 + 201539336 201826974 + 1580863;6480464 10574461;10574462;12062803;12079279;12421765;12477932;14702039;15158073;16344560;18029348;19322201;20936779;21832049;21963094;23251661;23602568;23936387;24255178;24816145;25065758 89796 H0Y6F6;H0YA94;H7BZD9;Q8NEY1 AB032977;AB033039;ABBA01027523;ABBA01027524;ABBA01027525;ABBA01027526;ABBA01027527;ABBA01027528;ABBA01027529;ABBA01027530;AC092800;AC096677;AF086348;AJ251973;AJ488101;AK022622;AK022631;AK024265;AK056158;AK091567;AL133664;AL512788;AL645504;AMYH02002479;AMYH02002480;AMYH02002481;AMYH02002482;AMYH02002483;AX034571;AY043013;BC007523;BC069250;BC117683;BP395555;BX648460;CH471067;CR936811;DA053418;DA166081;DA431858;NM_001167738;NM_020443;XM_005245572;XM_006711607;XM_006711608;XM_006711609;XM_006711610;XM_006711611 AAH07523;AAI17684;AAI56465;AAI72534;AAL05591;ADZ16071;BAA86465;BAA86527;BAB14136;BAB14142;BAB14865;BAG51635;CAB66088;CAC10130;CAD32470;CAH56487;EAW91372;EAW91373;EAW91374;NP_001161210;NP_065176;Q8NEY1;XP_005245629;XP_006711670;XP_006711671;XP_006711672;XP_006711673;XP_006711674 Hs.585374 1677724;1688993;1727873;1763397;1773675;1778155;1781668;1847759;1849210;2125685;2128016;2145978;2164943;2164945;2173412;2191039;2219978;5015861;5022651;5037552;7185938 A001Z35;AFMa070wf9;D10S16;D11S2921;D8S2279;G19824;G63353;HSC2EC122;MARC_13723-13724:1003151162:1;NAV1__6217;RH12478;RH93938;RH94308;SGC31803;SHGC-147114;SHGC-154974;SHGC-76139;SHGC-76147;SHGC-76148;T15894 DKFZp781D0314;FLJ12560;FLJ14203;KIAA1151;MGC14961;POMFIL3;STEERIN1;UNC53H1;steerin-1 OTTHUMP00000033914;OTTHUMP00000033915;OTTHUMP00000033917;neuron navigator-1;pore membrane and/or filament interacting like protein 3;pore membrane and/or filament-interacting-like protein 3;unc-53 homolog 1 APPROVED protein-coding ENSG00000134369 HGNC:15989 10113 611628 REVIEWED 5131802 NBEAP4 neurobeachin pseudogene 4 15 15 21893078 21903057 - 21250168 21260147 - 100418897 ABBA01204053;AC068446;AMYH02030008;NG_025284 pseudo HGNC:40009 INFERRED 5131801 NBEAP5 neurobeachin pseudogene 5 14 14 19833377 19857070 - 19130636 19154329 + 100418903 AL589182;AL589743;NG_027242 pseudo HGNC:40010 INFERRED 1604810 NBAS neuroblastoma amplified sequence This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012] 2 2 2 p24 15224679 15619170 - 15307032 15701472 - 15166908 15561348 - 6480464;8699517;7240710;8554872 11329013;11954550;12477932;12706883;14702039;16169070;17028906;19369418;19407829;19946888;20360068;20379614;20577004;20585324;21139048;21697133;21906983;21963094;23828042;23991058;24816145;9926938 51594 A2RRP1;C9JCM7;G1UI26;H0Y5G7;H7BZR3;H7BZU5;H7C007;H7C1U4;H7C1Y9 AB621813;ABBA01015679;ABBA01015680;AC007738;AC008278;AC008282;AC074184;AF056195;AF388385;AK057915;AK097726;AK126995;AL050281;AL832774;AL833270;AMYH02003311;AMYH02003312;BC040345;BC051792;BC108693;BC131735;BG195182;BQ878688;CH471053;HM243531;HM243532;NG_032964;NM_015909;NR_052013 A2RRP1;AAD18133;AAH51792;AAI08694;AAI31736;AAM93544;AAX88878;AAY24347;BAK64149;CAB43382;EAX00900;EAX00901;EAX00902;EAX00903;NP_056993 Hs.467759 1661088;1667131;1671605;1687307;1704864;1710618;1739889;1788444;1851402;2122729;2161775;5015961;5109281 B313ZH5;D15S1477;D15S954;D1S1425;D2S1968;D2S2118;D3S3825;HSC08G032;RH12241;RH66856;SHGC-79906;SHGC-84097;fj17b01.x1 DKFZp586G1219;FLJ40407;NAG;SOPH NAG/BC035112 fusion;NAG/FAM49A fusion;OTTHUMP00000149964;neuroblastoma-amplified gene protein;neuroblastoma-amplified protein;neuroblastoma-amplified sequence protein-coding ENSG00000151779 HGNC:15625 10473 608025;614800 REVIEWED 5131800 NBEAP6 neurobeachin pseudogene 6 14 14 19718326 19742038 + 19245668 19269380 - 100418904 AL589743;NG_027320 pseudo HGNC:40011 INFERRED 736912 NBL1 neuroblastoma 1, DAN family BMP antagonist This gene product is the founding member of the evolutionarily conserved CAN (Cerberus and DAN) family of proteins, which contain a domain resembling the CTCK (C-terminal cystine knot-like) motif found in a number of signaling molecules. These proteins are secreted, and act as BMP (bone morphogenetic protein) antagonists by binding to BMPs and preventing them from interacting with their receptors. They may thus play an important role during growth and development. Alternatively spliced transcript variants have been identified for this gene. Read-through transcripts between this locus and the upstream mitochondrial inner membrane organizing system 1 gene (GeneID 440574) have been observed. [provided by RefSeq, May 2013] 1 1 1 p36.13 18296492 18311717 + 19969723 19984949 + 19643229 19658456 + 1580863;6480464 10208746;10390159;11134349;11594460;12150978;12477932;15489334;15528323;16344560;19995712;21743959;22948749;7633401;7777541;8084583;8385338;8609050;9303440;9324305;9516839;9831647 4681 A3KFI1;A3KFI2;A3KFI3;A3KFI4;A3KFI5;E5RFZ1;P41271 ABBA01059765;ABBA01059766;AK292101;AK300872;AK309257;AK313265;AL031727;AL703187;AMYH02000422;AY049783;BC012037;BM988954;BQ671197;BT019423;CH471134;D28124;D89013;DA384331;DA921297;DA924824;DA929341;DB016315;DB253522;DB482000;HY084536;KF510717;NM_001204084;NM_001204085;NM_001204086;NM_001278164;NM_001278165;NM_001278166;NM_005380;NM_182744 AAH12037;AAL15440;AAV38230;BAA05671;BAA92265;BAF84790;BAG36074;BAG62517;EAW94894;EAW94895;NP_001191013;NP_001191014;NP_001191015;NP_001265093;NP_001265094;NP_001265095;NP_005371;NP_877421;P41271 Hs.654502 1734500;1740599;2154034;2157218;5017510 D1S1733E;D1S1764E;NBL1;RH68234;RH68284 D1S1733E;DAN;DAND1;MGC8972;NB;NO3 DAN domain family member 1;OTTHUMP00000002787;OTTHUMP00000195027;OTTHUMP00000195028;OTTHUMP00000195029;OTTHUMP00000195030;OTTHUMP00000195031;OTTHUMP00000195032;OTTHUMP00000195033;differential screening-selected gene aberrant in neuroblastoma;neuroblastoma candidate region, suppression of tumorigenicity 1;neuroblastoma suppressor of tumorigenicity 1;neuroblastoma, suppression of tumorigenicity 1 APPROVED protein-coding ENSG00000158747 HGNC:7650 09001 600613 REVIEWED 1604341 NBPF1 neuroblastoma breakpoint family, member 1 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] 1 1 1 p36.13 777 1054 + 16888922 16940100 - 16562427 16613605 - 6480464;8554872 11214970;12477932;14702039;16079250;20096688;21906983;22973535;23314748;7700633 55672 Q3BBV0;Q8IX87;S4R2X0;S4R2Z6;S4R3K2 AB051480;ABBA01135417;ABBA01172455;ABBA01185130;AC244231;AF379607;AF379611;AF379612;AF379613;AF379614;AF379615;AF379617;AF379618;AF379619;AF379620;AF379621;AF379623;AF379624;AF379627;AF379628;AK055895;AK123260;AL137798;AL355149;AY894575;AY894576;AY894577;AY894578;AY894579;AY894580;AY894581;AY894585;BC010124;BC013805;BC034418;BC066930;BC093404;BC094705;BC110431;DA320506;NM_017940 AAH34418;AAH94705;AAI69316;AAI69317;AAI69318;AAO15387;AAO15389;AAO15390;AAO15392;AAO15393;AAO15395;AAO15396;AAO15407;AAX85114;AAX85115;AAX85116;AAX85117;AAX85118;AAX85119;AAX85120;AAX85123;ADZ15902;BAB21784;NP_060410;Q3BBV0 Hs.467587;Hs.523572;Hs.714127;Hs.721588;Hs.732154;Hs.745004 1701638;1747979;2118252;2126232;2138529;2146928;5016673;5018987;5019571;5024644;5094058;5113988;5119126;5124401 AL033815;AU047468;D1S1852E;D1S2290;G34947;G66851;RH104463;RH26196;RH26229;RH35838;RH66976;RH68104;SHGC-57369;SHGC-74279 AB13;AB14;AB23;AD2;FLJ20719;KIAA1693;NBG;NBPF hypothetical protein LOC55672;neuroblastoma breakpoint family member 1 APPROVED protein-coding ENSG00000219481 HGNC:26088 07946 610501 REVIEWED 2302123 NBPF11 neuroblastoma breakpoint family, member 11 FOUND IN cytoplasm (inferred) q21.1 12477932;16079250 728912 Q5RGN0 AK302413;AL832622;BC136292;BX842679;NM_001101663 AAI36293;BAH13700;CAD89962;CAI23637;NP_001095133;Q5RGN0;Q86T75 Hs.515947;Hs.676059 DKFZp451B1418 protein-coding HGNC:31993 614001 1603883 NBPF11 neuroblastoma breakpoint family, member 11 FOUND IN cytoplasm (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; coumestrol; crotonaldehyde 1 1 1 q21.1 120062065 120081102 + 146032542 146082633 - 148102046 148152322 - 6480464 12477932;14702039;15146197;16079250;16344560;16710414;17567985;20096688;21906983;23314748;7700633 200030 Q86T75 ABBA01000952;ABBA01000953;AC239803;AF379606;AF419617;AK054850;AK302413;AL049742;AL356004;AL832622;BC136292;BI552657;BM802549;BP873295;BX648497;BX842679;CN421512;DB062330;NM_001101663;NM_183372;NR_046188;NR_110864;XM_006711197 AAI36293;AAO15406;BAH13700;CAD89962;CAI17086;CAI21822;NP_001095133;NP_899228;Q5RGN0;Q86T75;XP_006711260 Hs.721588;Hs.730358;Hs.740943;Hs.744018 5016673;5016954;5018987;5094058 AL033815;G34947;RH66976;RH80466 NBPF24 OTTHUMP00000213003;OTTHUMP00000213005;hypothetical protein LOC200030;neuroblastoma breakpoint family member 11;neuroblastoma breakpoint family, member 24 APPROVED protein-coding ENSG00000263956 HGNC:31993 14123 614001 VALIDATED 732527 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near this gene (NAT2). [provided by RefSeq, Jul 2008] 8 8 8 p22 17214719 17224685 + 18248755 18258723 + 18391245 18401213 + 1298615;1581053;1580863;2303760;2303765;2311597;2311598;2303766;2317169;2317172;5131600;4140932;4892219;5131856;5131606;5131605;5131858;5131863;5131861;5131602;6480464;7240710;8552653;8552663;8552665;8552668;8552678;8552649;8552664;8552671;8552648;8552650;8552652;8552670;8552687;8552685;8552667;5147680;8554872 10591543;10599336;12355549;12402313;12786839;12884528;14528063;15663505;15808403;15901993;15993904;16155914;16224574;16251120;16327307;16369173;16397907;16533241;16924569;17290401;17442289;17487534;18023090;18027363;19334527;19558213;19834256;19922706;20297661;20602614;22424094;7773298;8961976;9170150;9343502 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10 A4Z6T7;E7EWF9;P11245 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Hs.2 1722025;1741987;1743237;1743239;1744079;1793984;1796388;1848781;2146756 G06461;G59899;GDB:187676;GDB:310612;GDB:310613;GDB:386004;NAT2_957;PMC310725P3;WIAF-2120 AAC2;NAT-2;PNAT N-acetyltransferase type 2;OTTHUMP00000161399;OTTHUMP00000224593;arylamide acetylase 2;arylamine N-acetyltransferase 2;n-acetyltransferase-2;polymorphic arylamine N-acetyltransferase 2301749;2301750;2301751;2301752;2301753;2301754 PRSTS420_H;PRSTS421_H;PRSTS422_H;PRSTS423_H;PRSTS424_H;PRSTS425_H APPROVED protein-coding ENSG00000156006 HGNC:7646 02000 243400;612182 REVIEWED 1603453 NBPF12 neuroblastoma breakpoint family, member 12 FOUND IN cytoplasm (inferred) 1 q21.1 144926050 144934268 + 16079250;8619474;9110174 440675 AF131738;AL040349;AL139152;XM_001715810 AAD20027;CAI22485;Q5TAG4;XP_001715862 Hs.666981;Hs.721588 5016673;5016954;5018987;5094058 AL033815;G34947;RH66976;RH80466 protein-coding HGNC:31994 608607 1606849 NBPF13P neuroblastoma breakpoint family, member 13, pseudogene This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013] 1 1 1 q21.1 122388579 122428439 + 146571066 146585928 - 147099482 147114346 - 16079250;16712791;21502085;22973535 644861 ABBA01004398;AC241584;AL596177;BX336604;CB154168;NR_103466 Hs.451804 1692420;1708302 AL033859;SHGC-79181 APPROVED pseudo HGNC:31995 REVIEWED 1604049 NBEAL2 neurobeachin-like 2 The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011] 3 3 3 p21.31 46959687 46989710 + 47021173 47051194 + 46979683 47009704 + 6480464;8699517;7240710;8554872 12477932;12975309;14702039;18976975;19367581;19946888;21765411;21765412;21765413;21906983;21963094;22505724;23956138;9628581 23218 H0Y764;H7C354;H7C3Y7;H7C408;Q6ZNJ1 AB011112;ABBA01024708;AC094020;AK074036;AK092871;AK131104;AK293387;AK301269;AMYH02006678;AY358455;BC029944;BC035894;BC060874;BQ017286;CR988681;NG_031914;NM_015175;XM_005264992;XM_005264993;XM_006713072 AAH60874;AAQ88820;BAA25466;BAB84862;BAC03994;BAC85154;BAG56897;BAG62832;NP_055990;Q6ZNJ1;XP_005265049;XP_005265050;XP_006713135 Hs.437043 5107293 G66597 BDPLT4;GPS;KIAA0540 OTTHUMP00000209976;OTTHUMP00000209977;neurobeachin-like protein 2 APPROVED protein-coding ENSG00000160796 HGNC:31928 139090;614169 REVIEWED 1603454 NBPF10 neuroblastoma breakpoint family, member 10 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] 1 1 q21.1 145293371 145368684 + 146066318 146144804 - 6480464;8554872 12477932;14702039;15489334;16079250;16710414;18187866;19536264;21906983;23314748;24395524;24967941 100132406 Q5VTG6;Q5VTG7;Q5VTG8;Q6P3W6 ABBA01011507;AC239799;AF379616;AF379632;AF379634;AF379635;AF380580;AF380582;AF419616;AK000726;AL050141;AL592307;AY894565;BC021111;BC063799;BX538005;NM_001039703 AAH63799;AAI48332;AAO15388;AAO15400;AAO15403;AAO15405;AAO15442;AAX85104;BAA91343;CAH73995;CAH73996;CAH73997;NP_001034792;Q3BBW0;Q6P3W6 Hs.714127;Hs.721588 5016673;5016954;5018987;5019571;5022651;5094058;5119126 AL033815;AU047468;D11S2921;D1S2290;G34947;RH66976;RH80466 AB6;AG1;DKFZp564A057;DKFZp586O031;DKFZp686C1532;FLJ20719;FLJ35032;FLJ43804;FLJ55807;MGC182975;NBPF9 neuroblastoma breakpoint family member 10 protein-coding ENSG00000271425 HGNC:31992 614000 REVIEWED 1603448 NBPF18P neuroblastoma breakpoint family, member 18, pseudogene This pseudogene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013] 1 1 1 q21.3 125101447 125111285 + 151990754 151994985 + 152018278 152022509 + 14702039;16079250 441908 ABBA01049409;AF379625;AK125884;AL110415;AL450992;AMYH02001890;HG492765;NR_103561 Hs.656557 1757335 SHGC-144740 AL591893.1 APPROVED pseudo HGNC:31998 REVIEWED 1604742 NBPF12 neuroblastoma breakpoint family, member 12 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013] 1 1 q21 146373704 146467639 + 146938545 146996093 + 6480464 10574462;11948409;12477932;16079250;21906983;22973535;23314748;8619474;9110174 149013 H7BZX4;Q5TAG4 AB033071;AC244394;AF131738;AL040349;AL139152;AL359176;NM_001278141;XM_005277342;XM_005277343;XM_005277344;XM_005277345;XM_005277346;XM_005277347;XM_006711179;XM_006711180;XM_006711181;XM_006711182;XR_254328 AAD20027;BAA86559;CAI22485;NP_001265070;Q5TAG4;XP_005277399;XP_005277400;XP_005277401;XP_005277402;XP_005277403;XP_005277404;XP_006711242;XP_006711243;XP_006711244;XP_006711245 Hs.666981;Hs.721588 COAS1;DKFZp434O1213;KIAA1245 chomosome one amplified sequence 1 cyclophilin;chromosome 1 amplified sequence 1;hypothetical protein LOC149013;neuroblastoma breakpoint family member 12;uncharacterized protein LOC149013 APPROVED protein-coding ENSG00000268043 HGNC:24297 608607 REVIEWED 1603863 NBPF15 neuroblastoma breakpoint family, member 15 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013] 1 1 1 q21.2 120061785 120081106 + 148555986 148596267 + 144421386 144461667 - 12477932;14702039;15489335;16079250;16344560;16710414;21906983;22973535;23455924 284565 B4DRP3;Q8IX61;Q8N660 AC246785;AF379630;AF420437;AK097180;AK290142;AK290302;AK299360;AL954711;AY894566;BC023087;BQ890458;CV024999;DA932476;DB185273;DB300232;DC372755;ES313907;NM_001170755;NM_173638;XM_005245096;XM_005245097;XR_426769 AAH23087;AAO15398;AAO15443;AAX85105;BAF82831;BAF82991;BAG61355;CAM22821;NP_001164226;NP_775909;Q8N660;XP_005245153;XP_005245154 Hs.523572;Hs.656782;Hs.714127 5016673;5016954;5018987;5022651;5094058 AL033815;D11S2921;G34947;RH66976;RH80466 AB14;AG3;FLJ59046;FLJ78393;MGC8902;NBPF16 OTTHUMP00000082400;hypothetical protein LOC284565;neuroblastoma breakpoint family member 15;neuroblastoma breakpoint family member 16;neuroblastoma breakpoint family, member 16 protein-coding ENSG00000266338 HGNC:28791 14710 610414;614005 REVIEWED 1602376 NBPF19 neuroblastoma breakpoint family, member 19 1 1 q21 6290163 6371669 + 149475580 149556256 + 16079250 101060226 AC242842;AF379633;AF379636;AK292666;AK295639;XM_003960069;XM_005276167;XM_005276168;XM_005276169;XM_005276170;XM_005276171;XM_005276172;XM_005276173;XM_005276174;XM_005276175;XM_005276176;XM_005276177;XM_005276178;XM_005276179;XM_005276180;XM_005276181;XM_005276182;XM_005276183;XM_005276184;XM_005276185;XM_005276186;XM_005276187;XM_005277469;XM_005277470;XM_005277471;XM_005277472;XM_005277473;XM_005277474;XM_005277475;XM_005277476;XM_005277477;XM_005277478;XM_005277479;XM_005277480;XM_005277481;XM_005277482;XM_005277483;XM_005277484;XM_005277485;XM_005277486;XM_005277487;XM_005277488;XM_006711707;XM_006711708;XM_006711709;XM_006711710;XM_006711711;XM_006711712;XM_006726360;XM_006726361;XM_006726362;XM_006726363;XM_006726364;XM_006726365 AAO15401;AAO15402;BAF85355;BAH12136;XP_003960118;XP_005276224;XP_005276225;XP_005276226;XP_005276227;XP_005276228;XP_005276229;XP_005276230;XP_005276231;XP_005276232;XP_005276233;XP_005276234;XP_005276235;XP_005276236;XP_005276237;XP_005276238;XP_005276239;XP_005276240;XP_005276241;XP_005276242;XP_005276243;XP_005276244;XP_005277526;XP_005277527;XP_005277528;XP_005277529;XP_005277530;XP_005277531;XP_005277532;XP_005277533;XP_005277534;XP_005277535;XP_005277536;XP_005277537;XP_005277538;XP_005277539;XP_005277540;XP_005277541;XP_005277542;XP_005277543;XP_005277544;XP_005277545;XP_006711770;XP_006711771;XP_006711772;XP_006711773;XP_006711774;XP_006711775;XP_006726423;XP_006726424;XP_006726425;XP_006726426;XP_006726427;XP_006726428 Hs.445080;Hs.534675;Hs.714127 neuroblastoma breakpoint family member 19 APPROVED protein-coding ENSG00000271383 HGNC:31999 614006 MODEL 1606367 NBPF17P neuroblastoma breakpoint family, member 17, pseudogene This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2014] 1 1 1 q21.2 121392543 121449780 + 149089775 149106106 - 143595116 143611448 - 16079250;19536264 401967 ABBA01010827;AC239800;AC242799;AL732363;BQ431323;GQ131873;NG_033263;NR_103751 Hs.575982 1678831;1692228;1771236 AL009535;AL033772;RH64676 NBPF23;NBPF23P APPROVED pseudo HGNC:31997 612970 INFERRED 1606426 NBPF21P neuroblastoma breakpoint family, member 21, pseudogene This pseudogene on chromosome 3 is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013] 3 3 3 p22.2 36600253 36622041 - 36657501 36679289 - 36616009 36637797 - 16079250;22973535 205655 ABBA01024870;AC098648;AMYH02006548;NG_005549 APPROVED pseudo HGNC:32001 REVIEWED 1626600 NBPF22P neuroblastoma breakpoint family, member 22, pseudogene This transcribed pseudogene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013] 5 5 5 q14.3 81478296 81485010 + 85578262 85593365 + 86282444 86297547 + 11181995;12477932;16079250;23251661 285622 ABBA01062110;ABBA01062111;AC020923;AK308274;AMYH02011738;BC050328;CH879424;NR_003719 EAW50392 Hs.449272 MGC48637 APPROVED pseudo HGNC:28731 REVIEWED 1348611 NBN nibrin Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008] 8 8 8 q21 87140375 87191710 - 90945564 90996952 - 89933336 89984724 - 1580863;1600219;2298994;2298992;2298995;2298993;2298991;6480464;6907045;8554872;8699517;8661232;8662366 14973119;16424057;17337132;17899368;17932350;20690856;21533982;9590180 10426999;10608806;10766245;10783165;10802669;10839544;10839545;10888888;10913111;11110662;11238951;11252893;11325820;11438675;11448772;11486038;11504724;11809878;11877377;12023982;12036913;12082606;12124628;12353271;12419185;12433983;12447371;12447395;12470659;12477932;12485469;12505263;12508248;12529385;12588868;12607003;12607005;12637527;12660252;12679336;12750284;12792649;12833146;12833396;12845677;12861053;12883362;12917199;12955071;12972939;14519663;14684699;14688016;14702039;14745549;14988723;15010895;15024084;15026416;15048089;15064416;15180989;15185344;15201865;15234984;15279770;15279809;15302935;15338273;15377652;15456891;15489334;15493328;15578693;15616588;15653682;15733840;15734743;15746160;15758953;15790808;15914210;15916964;15921821;15937485;15965469;15980987;16002061;16033915;16036916;16051665;16152606;16163361;16188882;16195237;16214912;16309973;16343742;16391231;16392640;16415040;16428493;16467875;16474176;16478990;16638864;16702373;16714331;16728435;16752129;16770759;16788144;16872911;16877808;16905549;16932743;16936774;16964243;16972754;16998789;17030982;17034901;17078101;17169801;17219051;17333333;17384674;17431132;17442057;17476281;17485521;17486112;17496786;17500065;17507690;17526493;17534377;17537595;17544403;17557904;17612497;17685459;17693401;17694070;17695489;17700070;17715134;17765870;17894553;17898048;17957789;17981542;18001825;18003706;18025084;18029348;18040525;18049891;18056440;18073374;18171670;18234271;18270339;18270679;18280732;18328813;18394656;18411307;18458108;18469862;18541670;18562516;18568448;18575580;18579371;18582154;18582474;18583988;18593981;18596698;18627000;18632984;18638378;18644472;18664457;18676680;18678890;18691878;18701435;18710941;18723444;18763866;18768505;18793719;18829552;18830263;18830935;18835245;18940477;18949738;18950845;19064565;19064572;19074885;19116388;19124506;19126654;19151086;19151620;19164952;19170196;19177012;19197236;19244116;19244322;19270065;19338682;19338747;19383352;19393077;19393249;19394292;19523210;19536092;19573080;19584272;19586055;19597347;19597488;19609304;19625176;19629396;19635536;19661089;19683501;19690177;19692168;19706757;19714462;19772428;19773279;19789190;19804755;19804756;19862546;19904603;19908051;19910469;19917125;19950226;20003485;20004634;20010693;20070254;20143155;20150366;20175780;20224574;20232390;20301355;20379614;20453000;20453309;20460517;20471956;20478923;20496165;20522537;20571895;20600238;20610542;20634891;20644561;20682289;20720310;20729302;20731661;20734064;20813000;20921278;20975951;21108945;21130714;21139048;21166880;21187428;21208456;21215087;21282530;21325134;21436738;21472885;21656575;21676867;21811815;21816818;21884979;21889209;21890473;21906983;21987080;22070649;22114071;22131123;22161642;22413803;22430443;22464731;22491912;22505724;22565321;22631660;22740413;22752646;22851427;22864661;22927831;22939629;22941933;23115235;23145133;23146902;23149842;23275190;23283743;23291854;23317186;23329831;23368512;23381647;23458873;23468639;23525106;23684611;23762398;23765759;23954013;23979977;24054861;24072268;24113799;24166361;24220101;24332808;24510842;24659671;24830725;24850735;8125298;8170997;8870681;9042920;9199571;9258347;9590181;9620777;9705271;9933573 4683 E2QRP0;E5RGN7;E5RGR7;E5RGU1;O60934 AB013139;ABBA01037402;AF051334;AF058696;AF069291;AK001017;AK223256;AK289848;AK312410;AMYH02018393;AY566246;BC005293;BC016762;BC040519;BC071590;BC108650;BC136802;BC136803;BC144413;BC146797;BX640816;CH471060;CQ978987;NG_008860;NM_002485;XM_005250923;XR_242390;XR_242391 AAC39732;AAC39752;AAC62232;AAH16762;AAI08651;AAI36803;AAI36804;AAI43066;AAI43067;AAI46798;AAS59158;BAA28616;BAD96976;BAF82537;BAG35323;CAH56160;CAI45369;EAW91660;EAW91661;NP_002476;O60934;XP_005250980 Hs.492208 1661022;1671792;1710640;1716919;1721211;1722049;1723983;1748323;1748325;1748327;1748329;1748331;1748333;1748335;1748337;1795062;2186365 A004N06;G59446;G59911;G66920;G66921;G66922;G66923;G66924;G66925;G66926;G66927;PMC96138P1;RH118942;RH121752;SHGC-36208;SHGC-84116;WI-18046 AT-V1;AT-V2;ATV;FLJ10155;MGC87362;NBS;NBS1;P95 Nijmegen breakage syndrome 1 (nibrin);OTTHUMP00000204086;OTTHUMP00000204088;cell cycle regulatory protein p95;nijmegen breakage syndrome protein 1;p95 protein of the MRE11/RAD50 complex APPROVED protein-coding ENSG00000104320 HGNC:7652 04050 602667 REVIEWED 1606651 NBPF2P neuroblastoma breakpoint family, member 2, pseudogene This pseudogene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] 1 1 p36.12 21749601 21754453 - 21423108 21427960 - 16079250;22973535 343381 ABBA01059811;AL592309;AMYH02000452;NG_005533 APPROVED pseudo HGNC:31987 REVIEWED 2311153 NBPF23P neuroblastoma breakpoint family, member 23, pseudogene This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013] 1 1 q21.2 149125598 149154987 - 143630937 143660323 - 19536264 100302292 ABBA01010825;ABBA01010826;ABBA01010827;AC239800;AC242799;BQ431323;GQ131873;NR_103751 Hs.575982 NBPF23 neuroblastoma breakpoint family, member 23 APPROVED pseudo HGNC:37075 612970 VALIDATED 7828432 NBPF25P neuroblastoma breakpoint family, member 25, pseudogene This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Sep 2013] 1 1 2409013 2423295 - 145572345 145607858 - 16344560 101929780 ABBA01027329;ABBA01027330;AC239860;AK125792;DB049385;DB064097;DC403040;NR_104217 Hs.534675;Hs.694285;Hs.714127 WI2-925H4.1 pseudo ENSG00000272150 HGNC:45046 VALIDATED 1604034 NBPF14 neuroblastoma breakpoint family, member 14 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013] 1 1 1 q21.1 120064402 120080387 + 148003031 148025865 - 148531385 148595737 - 6480464 14702039;16079250;21502085;21906983;22973535;23314748;8619474;9110174 25832 Q5TI25 AC239811;AF161426;AF379626;AF379631;AK095459;AL022240;AL117237;AY894582;AY894583;NM_015383;XM_006711265 AAF28986;AAO15394;AAO15399;AAX85121;AAX85122;CAB55305;CAI20179;CAI20180;CAI20181;CAI20182;CAI20183;CAI20184;CAI20185;CAI20186;NP_056198;Q5TI25;XP_006711328 Hs.534675;Hs.714127 5016673;5016954;5018987;5094058 AL033815;G34947;RH66976;RH80466 AE5;DJ328E19.C1.1;FLJ35032;FLJ60520;NBPF;RP3-328E19.1 OTTHUMP00000015812;hypothetical protein LOC25832;neuroblastoma breakpoint family member 14 protein-coding ENSG00000270629 HGNC:25232 13148 614003 REVIEWED 1604276 NBPF3 neuroblastoma breakpoint family, member 3 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013] 1 1 1 p36.12 20088794 20143634 + 21766583 21811393 + 21440090 21484900 + 6480464 11076863;11230166;12477932;14702039;15334068;15489336;16079250;16189514;16344560;16381901;17391723;18940312;19303062;19744961;20558539;21832049;21906983;22001757;22797925;24250222;9587054 84224 B3KTI0;Q9H094;X6RCV0 ABBA01059816;ABBA01059817;AF379629;AK095602;AK098438;AK292580;AK299840;AK314597;AL136890;AL592309;AL834330;AMYH02000452;AY598326;AY894564;BC024011;BI909818;CH471134;DB071146;NM_001256416;NM_001256417;NM_032264;NR_046176;XM_006710957;XM_006710958;XM_006710959 AAH24011;AAI46689;AAO15397;AAT06737;AAX85103;BAF85269;BAG53092;BAG61704;CAB66824;CAD38998;CAL37902;EAW94971;EAW94972;EAW94973;NP_001243345;NP_001243346;NP_115640;Q9H094;XP_006711020;XP_006711021;XP_006711022 Hs.325422 1701638;2118252;5016673;5094058 G34947;RH104463;RH66976;SHGC-74279 AE2;DKFZp434D177;RP11-293F5.5 OTTHUMP00000002964;OTTHUMP00000002965;OTTHUMP00000002966;neuroblastoma breakpoint family member 3;protein SHIIIa4 protein-coding ENSG00000142794 HGNC:25076 10633 612992 REVIEWED 1602233 NBPF16 neuroblastoma breakpoint family, member 16 FOUND IN cytoplasm (inferred) 1 q21.2 148739442 148758311 + 15489335;16079250;16344560;16710414;21906983 728936 Q5SXJ2;Q8IX71 AF380581;AL592492;CV024999;DA932476;DB185273;DC372755;ES313907;NM_001102663 AAO15404;CAI16654;NP_001096133;Q5SXJ2 Hs.523572;Hs.534675;Hs.714127 5016673;5016954;5018987;5094058 AL033815;G34947;RH66976;RH80466 AG3 OTTHUMP00000038386;hypothetical protein LOC728936;neuroblastoma breakpoint family member 16 protein-coding ENSG00000203827 HGNC:31996 614005 VALIDATED 7815587 NBPF26 neuroblastoma breakpoint family, member 26 FOUND IN cytoplasm (inferred) 1 120804865 120842110 + 16344560 101060684 B4DH59 AC253572;AK294944;AW965356;DA203219;DA675097;XM_003960230;XM_005276139;XM_005276140;XM_005277503;XM_005277504;XM_005277505;XM_006711091;XM_006711092;XM_006711093;XM_006711094;XM_006711095;XM_006711096;XM_006726340;XM_006726341;XM_006726342;XM_006726343;XM_006726344;XM_006726345 B4DH59;BAG58020;XP_003960279;XP_005276196;XP_005276197;XP_005277560;XP_005277561;XP_005277562;XP_006711154;XP_006711155;XP_006711156;XP_006711157;XP_006711158;XP_006711159;XP_006726403;XP_006726404;XP_006726405;XP_006726406;XP_006726407;XP_006726408 Hs.534675;Hs.714127 neuroblastoma breakpoint family member 26 protein-coding HGNC:49571 MODEL 1603519 NBPF5P neuroblastoma breakpoint family, member 5, pseudogene FOUND IN cytoplasm (inferred) 1 1 p13.3 108918741 108926235 + 108376119 108383613 + 6480464 12477932;15489334;16079250 100507044 Q86XG9 ABBA01153475;AMYH02001681;BX323851;BX649306;NG_028895 Q86XG9 DKFZp434D177-like;NBPF5;RP11-242D10.1 neuroblastoma breakpoint family, member 5 APPROVED pseudo HGNC:24491 613995 INFERRED 1602958 NBPF7 neuroblastoma breakpoint family, member 7 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013] 1 1 1 p12 118608089 118618486 - 120377388 120387503 - 119834765 119844880 - 8554872 16079250 343505 P0C2Y1 ABBA01068518;AL359752;AMYH02001821;AMYH02001822;NM_001047980 AAI56111;AAI56967;NP_001041445;P0C2Y1 hypothetical protein LOC343505;putative neuroblastoma breakpoint family member 7 protein-coding HGNC:31989 613997 REVIEWED 1602598 NBPF6 neuroblastoma breakpoint family, member 6 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2013] 5 1 1 p13.3 81478296 81483774 + 108992887 109013639 + 108450265 108471017 + 6480464 12477932;16079250;22973535 653149 F8WBA8;Q5VWK0 ABBA01156222;AL390038;AL392088;BC125161;BX323851;NM_001143987;NM_001143988;XM_005271144 AAI25162;NP_001137459;NP_001137460;Q5VWK0;XP_005271201 Hs.712226 1649681;1670937;1670939;1680763;1720377 A005T36;G20488;RH123940;RH36018;SHGC-75245 OTTHUMP00000178983;OTTHUMP00000233751;neuroblastoma breakpoint family member 6 protein-coding ENSG00000186086 HGNC:31988 613996 REVIEWED 2302827 NBPF4 neuroblastoma breakpoint family, member 4 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013] 1 1 1 p13.3 106940668 106941075 - 108765902 108786720 - 108223280 108244098 - 6480464 12477932;14702039;16079250 148545 B7ZAX3;Q96M43 ABBA01028419;ABBA01153475;AK057395;AK302318;AK316438;AL359258;AMYH02001664;AMYH02001665;BC125162;CH471156;DC402863;HC007180;NM_001143989;XM_005270497;XM_006710378 AAI25163;BAB71469;BAG63656;BAH14809;CBH19395;EAW51256;NP_001137461;Q96M43;XP_005270554;XP_006710441 Hs.511849 FLJ32833 OTTHUMP00000013058;neuroblastoma breakpoint family member 4 protein-coding ENSG00000196427 HGNC:26550 08144 613994 REVIEWED 1605785 NBPF20 neuroblastoma breakpoint family, member 20 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014] 1 1 q21.2 148250249 148347262 - 145289900 145420596 - 6480464 16079250 100288142 A2BH96 AC245014;AK299612;BX546486;NG_034048;NM_001278267;XM_006711103;XM_006711104 BAG61540;NP_001265196;Q3BBV1;XP_006711166;XP_006711167 Hs.445080 FLJ37711;FLJ60244;KIAA1245;NBPF10 neuroblastoma breakpoint family member 20 protein-coding ENSG00000162825 HGNC:32000 613999;614007 VALIDATED 1345311 NBR2 neighbor of BRCA1 gene 2 (non-protein coding) This gene was identified by its close proximity on chromosome 17 to tumor suppressor gene BRCA1. Experimental evidence indicates that the two genes share a bi-directional promoter. Transcription for either gene is controlled individually by distinct transcriptional repressor factors. A short (112 amino acid) open reading frame is observed which includes a region derived from a LINE1 element. A strong Kozak signal is not observed for the putative ORF and the stop codon is more than 55 bases upstream of the last splice site for the transcript suggesting that the transcript is subject to nonsense-mediated decay. Therefore, this gene does not appear to encode a protein. [provided by RefSeq, Jul 2008] 17 17 17 q21 37934454 37953984 + 41277600 41297130 + 43125583 43145113 + 1580863;6480464 10205276;10531328;11179671;11508855;12477932;15533724;15777733;16052033;16438707;21989022;9215675;9261099 10230 O15453 ABBA01006390;AC135721;AL598622;AMYH02033450;AMYH02033451;AY597810;BC022065;BC034248;BC107773;BT007332;CR936675;NG_005905;NR_003108 Hs.373818;Hs.559259 1662158;1744103;1745697;1791446;2164296;5015861;5016478;5022200;5022578;7185938 D10S16;D17S1198;D1S1423;GDB:388557;GDB:434012;GDB:631944;L18426;PMC110706P1;RH70206 DKFZp686F081;MGC104305;NCRNA00192 APPROVED ncrna ENSG00000198496 HGNC:20691 10115 REVIEWED 1605145 NBPF8 neuroblastoma breakpoint family, member 8 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] 1 1 q21.1 144169149 144224264 + 120417194 120467844 + 8554872 12477932;16079250;21906983;22901949;22973535;23314748 728841 H7BY70;Q3BBV2;Q5U227 AC241952;AK300749;AK307809;AL049742;AL356004;AY894561;AY894562;AY894563;AY894567;AY894568;AY894569;AY894570;AY894571;AY894572;AY894573;BC071723;BC086308;BC089398;BX511041;NM_001037501;NR_102404;NR_102405;XM_006710872 AAH86308;AAX85100;AAX85101;AAX85102;AAX85106;AAX85107;AAX85108;AAX85109;AAX85110;AAX85111;AAX85112;BAG62418;CAM28240;CAM28241;NP_001032590;Q3BBV2;XP_006710935 Hs.445080;Hs.571820;Hs.721588 5016673;5018987;5094058;5113024 AL033815;G34947;RH66976;RH98198 MGC99641;NBPF11;NBPF8P CG10522-PA-like;OTTHUMP00000095769;hypothetical protein LOC728841;neuroblastoma breakpoint family member 8;neuroblastoma breakpoint family, member 8, pseudogene;putative neuroblastoma breakpoint family member 8 APPROVED protein-coding HGNC:31990 613998 REVIEWED 1348281 NCALD neurocalcin delta This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 8 8 8 q22.2 98883681 99322037 - 102698770 103137135 - 101686542 102124907 - 6480464;8554872 11076863;11115393;11230166;11256614;11267673;11836243;11964161;12477932;14702039;15489334;15489336;16189514;16344560;16381901;17671797;18500817;19342380;20125193;20379614;21876539;21890473;21906983;23156397;23349634;7852401;8619474;8889548;9110174 83988 B2RB70;E5RFL9;E5RGA9;E5RGZ0;E5RHC8;E5RHE8;E5RI78;E5RI95;E5RIA5;E5RIG4;E5RIX3;E5RIZ1;E5RJ38;E5RJA1;E5RJF1;E5RJJ6;E5RJT1;E5RK89;P61601 AB209015;ABBA01037598;ABBA01037599;ABBA01037600;ABBA01037601;AF052142;AF251061;AK055073;AK055097;AK096515;AK314523;AL136612;AMYH02018520;AMYH02018521;AMYH02018522;AMYH02018523;AMYH02018524;AMYH02018525;AMYH02018526;AP000426;AP001206;AP001328;AP001329;AP001575;BC001131;BC009949;BC033319;BC036098;BC063428;BM681731;CH471060;DA185335;DA211806;DA215759;DA417037;DA776593;DA779293;DB284042;NM_001040624;NM_001040625;NM_001040626;NM_001040627;NM_001040628;NM_001040629;NM_001040630;NM_032041;XM_006716672 AAH36098;AAH63428;AAK34951;ABZ92067;BAD92252;BAG37117;BAG51461;BAG53310;CAB66547;CAL37558;CAL38224;EAW91835;EAW91836;EAW91837;NP_001035714;NP_001035715;NP_001035716;NP_001035717;NP_001035718;NP_001035719;NP_001035720;NP_114430;P61601;XP_006716735 Hs.492427 1335227;1645667;1665285;1670050;1672806;1700132;1715425;1763483;1763625;1853253;1856344;2110973;2123942;2127125;2133230;2133232;2147465;2147467;2156577;2157944;2220516;5122711 186XB2;A002C26;A005U11;AFM345YD9;D8S1046;D8S361E;G19929;G20502;G32174;L29702;RH103679;RH12039;RH120545;RH18432;RH47462;SGC32324;SHGC-147184;SHGC-147319;SHGC-32239;SHGC-4220;UniSTS:483862;WI-15914 MGC33870;MGC74858 OTTHUMP00000227782;OTTHUMP00000227783;OTTHUMP00000227785;neurocalcin-delta APPROVED protein-coding ENSG00000104490 HGNC:7655 09466 606722 REVIEWED 7255571 NCAM1-AS1 NCAM1 antisense RNA1 11 11 11 q23.2 110293190 110297559 - 113140254 113144623 - 113269532 113273901 - 19913121;20379614;20628086 100288346 ABBA01039789;AK293718;AMYH02025592;AMYH02025593;AP000880;DC305174;DC309426;HG504170;NG_032036;NR_034101 BAG57149 Hs.661826 2118781;2132335 D11S3988;G15914 RP11-839D17.2 ncrna ENSG00000227487 HGNC:48675 VALIDATED 1342930 NCAM2 neural cell adhesion molecule 2 The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008] 21 21 21 q21.1 7541720 8085871 + 22370633 22913892 + 20998315 21541571 + 1580863;6480464;6907045;8554872 10830953;12477932;12538518;12754519;15146195;16009131;18706912;19086053;20029409;20379614;20834067;20932310;21214674;21300289;21552555;21906983;22589738;24583282;9226371 4685 H9KV31;O15394 AA234378;ABBA01057158;ABBA01057159;ABBA01057160;ABBA01057161;ABBA01057162;ABBA01057163;AI207079;AK299054;AK302870;AL137344;AMYH02037597;AMYH02037598;AMYH02037599;AMYH02037600;AMYH02037601;AMYH02037602;AMYH02037603;AMYH02037604;AMYH02037605;AP001114;AP001115;AP001136;AP001137;AP001138;AP001252;BC036088;BC052946;CH471079;KC877809;KC877810;KC877812;KC877814;KC877817;KC877818;KF457072;KF457076;KF457077;KF510497;KF510499;KF510500;KF510501;KF510502;KF510503;KF510505;KF511342;KF511344;KF511345;KF511480;NM_004540;U75330;XM_005260988;XM_006724007;XM_006724008;XM_006724009 AAB80803;AAH52946;BAH12938;BAH13827;EAX10004;EAX10005;NP_004531;O15394;XP_005261045;XP_006724070;XP_006724071;XP_006724072 Hs.473450 1340473;1341412;1670389;1679113;1688706;1689233;1715617;1718621;1728019;1731162;1732123;1757631;1771892;1790631;2171582;5491390 D21S178;D21S1884;D21S214;D21S414;G63280;NCAM2;RH119251;RH122996;RH92742;SHGC-145550;SHGC-51821;SHGC-51842;SHGC-6935;SHGC-7315;SHGC-87507;STS_CEB261 MGC51008;N-CAM-2;NCAM-2;NCAM21 OTTHUMP00000095814 APPROVED protein-coding ENSG00000154654 HGNC:7657 03619 602040 REVIEWED 1344259 NCAN neurocan Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM, Jul 2002] 19 19 19 p12 19227578 19267865 + 19322773 19363061 + 19211964 19252252 + 728116;1580863;6480464;6484113;8554872 1326557 10934197;11076863;12477932;14702039;15057824;15146197;18193043;19060906;19060911;19148283;20679960;20686565;20950796;21353194;21997179;22208664;22497794;22952076;23198940;23594525;23974872;24250222;24978903;7490074;7513709;8663515;8910306;9341124;9507007;9795216 1463 K7EKF8;O14594;Q4LE67 AB210004;ABBA01051319;ABBA01051320;AC003110;AC005254;AC138430;AF026547;AK126639;AK297395;AK309138;AMYH02035752;CH471106;CN282070;NM_004386;XM_005259745;XM_005259746;XM_005259747 AAB86655;AAC25581;AAC80576;AAI11852;BAE06086;BAG59835;EAW84801;EAW84802;NP_004377;O14594;XP_005259802;XP_005259803;XP_005259804 Hs.169047 1733846;1751685;2107973;2123520;2147839 CSPG3_8286;D19S603;D19S652E;RH35856;SHGC-105663 CSPG3;FLJ44681 chondroitin sulfate proteoglycan 3 (neurocan);neurocan core protein;neurocan proteoglycan APPROVED protein-coding ENSG00000130287 HGNC:2465 02897 600826 VALIDATED 8172679 NBPF9 neuroblastoma breakpoint family, member 9 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] 1 1 1 q21.1 120062193 120079507 + 144811743 144830407 + 149054033 149090861 - 8554872 12477932;14702039;15252450;16079250;22973535;23314748 400818 B4DG53;Q3BBV1;Q3BBW0 ABBA01004244;AC239804;AF419618;AF419619;AK095030;AK294414;AL138796;AY894574;BC027348;BC071995;BC094841;BQ436001;BX546486;DQ786323;NM_001037675;NM_001277444;XM_006711317 AAI67783;AAX85113;BAG57664;CAI16968;CAI16969;CAI22821;CAM23768;NP_001032764;NP_001264373;XP_006711380 Hs.445080;Hs.534675;Hs.714127 5016673;5016954;5018987;5094058;5119126 AL033815;D1S2290;G34947;RH66976;RH80466 AE01 protein-coding ENSG00000269713 HGNC:31991 613999 REVIEWED 6482609 NCAPD2P1 non-SMC condensin I complex, subunit D2 pseudogene 1 7 7 7 34770739 34772530 - 34789865 34791656 - 34750253 34752044 - 100421175 ABBA01056881;AC005174;AMYH02015506;NG_026451 1772132 WI-21900 pseudo HGNC:43831 INFERRED 1322877 NBR1 neighbor of BRCA1 gene 1 The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] 17 17 17 q21.31 37979356 38020564 + 41322498 41363707 + 43170481 43211688 + 6480464 11179671;11856312;12107412;12477932;12813044;14702039;15489334;15802564;15840729;16189514;16713569;16861740;18781797;19250911;19398892;19427866;19822672;19946888;20010802;20368287;20379614;20417604;20562859;20808283;21121670;21139048;21606687;21620860;21906983;21909099;21935636;21963094;21989022;22430266;22484440;22505724;22558309;22728060;22797925;23239026;23649778;24128730;24269898;24413169;24664425;24692539;24879152;25007327;25042851;7545954;7581362;7584044;7997258;8069304;8700509 4077 B7Z5R6;Q14596 ABBA01006388;ABBA01006389;ABBA01006390;AC024051;AC060780;AC109326;AF227189;AK128512;AK290005;AK297425;AK299328;AK308324;AMYH02033451;AMYH02033452;AMYH02033453;AW874218;AY450308;BC009808;BC012591;BC012847;BM509256;CD673012;CH471152;D30756;DB081342;DQ190450;DQ190451;DQ190452;DQ190453;DQ190454;DQ190455;DQ190456;DQ190457;DQ478408;HY045337;NG_005905;NM_001291571;NM_001291572;NM_005899;NM_031858;NM_031862;U25764;X76952;XM_006721903 AAA93228;AAF74119;AAH09808;AAS15047;ABA29210;ABA29213;ABA29216;ABA29219;ABA29222;ABA29225;ABA29228;ABA29231;ABF14461;BAA06417;BAF82694;BAH12580;BAH13002;CAA54274;EAW60946;EAW60947;EAW60948;EAW60949;EAW60950;EAW60951;EAW60952;EAW60953;NP_001278500;NP_001278501;NP_005890;NP_114064;NP_114068;Q14596;XP_006721966 Hs.277721;Hs.708158 1A1-3B;FLJ55359;FLJ98272;IAI3B;KIAA0049;M17S2;MIG19 cell migration-inducing gene 19 protein;membrane component chromosome 17 surface marker 2;membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125);migration-inducing protein 19;neighbor of BRCA1 gene 1 protein;next to BRCA1 gene 1 protein APPROVED protein-coding ENSG00000188554 HGNC:6746 01326 166945 REVIEWED 1352198 NCAPH non-SMC condensin I complex, subunit H This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013] 2 2 2 q11.2 91442671 91482461 + 97001479 97042833 + 96335741 96377095 + 1580863;6480464;8554872 11136719;11694586;12477932;14532007;15489334;16543152;16565220;16964243;17268547;18029348;19454010;19946888;21139048;21151026;21633354;21890473;21906983;22505724;22863883;22939629;23000965;23383273;24457600;24816145;25027693;7584044;9160743;9417923 23397 B4DRG7;C9J470;C9JZP1;E9PHA2;H7C415;Q15003 ABBA01036591;AC021188;AK291053;AK299248;AK303725;AK308050;AK310649;AMYH02004331;AMYH02004332;BC024211;BI559873;BI560881;CH471207;D38553;KF456681;NM_001281710;NM_001281711;NM_001281712;NM_015341;XM_005263907;XM_005263908;XM_006712388 AAH24211;ABM84358;ABW03559;BAA07556;BAF83742;BAG61279;BAG64701;EAW71370;NP_001268639;NP_001268640;NP_001268641;NP_056156;Q15003;XP_005263964;XP_005263965;XP_006712451 Hs.308045 2143112;5113052 RH17440;RH25303 BRRN1;CAP-H;HCAP-H OTTHUMP00000161008;OTTHUMP00000207475;OTTHUMP00000207476;OTTHUMP00000207477;XCAP-H homolog;barren homolog 1;barren homolog protein 1;chromosome-associated protein H;condensin complex subunit 2 APPROVED protein-coding ENSG00000121152 HGNC:1112 03820 602332 REVIEWED 1601870 NCAPH2 non-SMC condensin II complex, subunit H2 This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010] 22 22 22 q13.33 34822672 34839236 + 50946645 50963209 + 50508216 50524780 + 6480464;8554872 10493829;12477932;12667442;14532007;15461802;16751776;17268547;19913121;19946888;20139978;20442714;20628086;21906983;21988832;22505724;23222517;23956138;24816145 29781 E5RJL4;E5RJN3;F8WAR3;H0YC55;Q6IBW4 ABBA01042625;ABBA01042626;ABBA01042627;AL021682;AMYH02038618;BC000473;BC001298;BC001509;BC001833;BC001937;BC009441;BC014939;BM802841;BU632273;CH471138;CR456604;DB498781;DQ579583;HG512391;NG_021419;NM_001185011;NM_014551;NM_152299;U62317;XM_005261912 AAB03345;AAH00473;AAH01509;AAH01833;AAH01937;AAH09441;AAH14939;CAA16670;CAG30490;EAW73552;EAW73553;EAW73554;EAW73555;EAW73556;EAW73557;EAW73558;EAW73559;NP_001171940;NP_055366;NP_689512;Q6IBW4;XP_005261969 Hs.730607 1681911;1699060;1748375;1769722;1777806;2219676 AL008670;G65740;RH103105;RH92958;SCO2__5555;WI-11276 384D8-2;384D8_6;CAP-H2;CAPH2;MGC15858;MGC18000;MGC2455;MGC4133;MGC5305;MGC8640;hCAP-H2 CAP-H2 subunit of the condensin II complex;CTA-384D8.36;OTTHUMP00000196601;OTTHUMP00000196603;OTTHUMP00000196725;OTTHUMP00000196727;OTTHUMP00000196728;OTTHUMP00000196729;OTTHUMP00000226018;OTTHUMP00000226019;chromosome-associated protein H2;condensin-2 complex subunit H2;kleisin beta APPROVED protein-coding ENSG00000025770 HGNC:25071 611230 REVIEWED 1604840 NCAPD2 non-SMC condensin I complex, subunit D2 ENCODES a protein that exhibits histone binding; INVOLVED IN mitotic chromosome condensation; FOUND IN condensed chromosome; condensin complex; cytoplasm; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; bisphenol A 12 12 12 p13.3 8220214 8257993 + 6602547 6641132 + 6494132 6531966 + 6480464 10101332;10601332;10958694;11136719;12138188;12477932;14532007;14702039;15146197;15489334;16543152;16565220;16964243;17081983;17268547;18029348;18340469;19343720;19454010;19946888;20508983;20800603;21139048;21858164;21890473;21906983;21963094;21987572;22053931;22113938;22145905;22505724;22586326;22863883;22939629;22990118;23000965;23667531;24816145;8590280 9918 B3KMS0;B3KY03;E7EN77;F5GZK7;F5H431;Q15021 ABBA01017642;ABBA01017643;AC006064;AK022511;AK125155;AK128354;AK303310;AL548223;AMYH02025952;AMYH02025953;BC016913;BC028182;CH471116;CN307514;D63880;NM_014865 AAH16913;AAH28182;BAA09930;BAC86066;BAG51082;BAG54665;BAG64379;EAW88788;EAW88789;EAW88790;NP_055680;Q15021 Hs.5719 1683525;1733586;1772132;2124947;2161254;5015527;5015961;5022322;5124893 D11S2560;D12S229;D12S924;D15S1477;G41276;RH25377;RH48486;RH93703;WI-21900 CAP-D2;CNAP1;KIAA0159;hCAP-D2 OTTHUMP00000238893;OTTHUMP00000238895;XCAP-D2 homolog;chromosome condensation related SMC associated protein 1;chromosome condensation-related SMC-associated protein 1;chromosome-associated protein D2;condensin complex subunit 1 protein-coding ENSG00000010292 HGNC:24305 06472 615638 VALIDATED 6481348 NCBP2-AS1 NCBP2 antisense RNA 1 100874001 AC011322 APPROVED ncrna HGNC:40392 1603208 NCAPG2 non-SMC condensin II complex, subunit G2 This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 7 7 7 q36.3 152856604 152930122 - 158424002 158497520 - 158631169 158704831 - 6480464;8554872 12477932;12690205;12853948;14532007;14702039;14729962;15489334;16196087;16344560;16565220;17268547;18029348;18718915;19946888;21139048;21890473;21906983;21963094;21987572;22505724;23000965;23956138;24816145 54892 B3KRQ2;F8WE06;H0Y6U5;Q86XI2 ABBA01032314;AC019084;AC093662;AK000318;AK022744;AK023347;AK092008;AK295057;AK301901;AK315699;AMYH02017180;AMYH02017181;AMYH02017182;BC005878;BC020560;BC028618;BC043404;BX537845;CA422216;CH236954;CH471149;DB069860;DW419642;KF510997;NM_001281932;NM_001281933;NM_017760;NR_104054;XM_005249547;XM_006716034 AAH05878;AAH20560;AAH43404;AAS07494;ACE86950;ACE87640;BAA91081;BAB14219;BAB14534;BAG52464;BAG58106;BAG63329;CAD97854;EAL23929;EAX04585;EAX04586;EAX04587;EAX04588;EAX04589;NP_001268861;NP_001268862;NP_060230;Q86XI2;XP_005249604;XP_006716097 Hs.18616 CAP-G2;CAPG2;FLJ20311;LUZP5;MTB;hCAP-G2 OTTHUMP00000202108;OTTHUMP00000202109;OTTHUMP00000202110;OTTHUMP00000202112;chromosome-associated protein G2;condensin-2 complex subunit G2;leucine zipper protein 5;more than blood homolog APPROVED protein-coding ENSG00000146918 HGNC:21904 10539 608532 REVIEWED 1605960 NCAPG non-SMC condensin I complex, subunit G This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 4 4 4 p15.33 18277506 18311469 + 17812436 17846488 + 17810813 17845719 + 6480464 10910072;11136719;12138188;12477932;14532007;14702039;14968112;15148359;15489334;15662014;16341674;16543152;16565220;17081983;17268547;17353931;17611626;18029348;18391951;18781797;18977199;19454010;19946888;20189936;20546612;21139048;21145461;21890473;21906983;22145905;22505724;22863883;22939629;22990118;23000965;24816145 64151 D6RA93;H0Y9Z8;Q9BPX3 AB013299;ABBA01032617;AC005768;AF235023;AF331796;AK022512;AK023147;AK027511;AMYH02008827;BC000827;BC002337;BC068467;BC101476;BC143383;BG398543;BM743260;BX474610;CH471069;DB451361;NM_022346;NR_073124;XM_006713971;XM_006713972 AAG30732;AAG49627;AAH00827;AAH68467;AAI01477;BAB14069;BAB14429;BAB21557;BAB55165;EAW92785;NP_071741;Q9BPX3;XP_006714034;XP_006714035 Hs.567567 1673858;1698918;2120891;2180285;5093308;5112161 A009L13;G32642;RH102048;RH103028;SHGC-67761;STS-R67597 CAPG;CHCG;FLJ12450;HCAP-G;MGC126525;NY-MEL-3;YCG1 OTTHUMP00000158674;XCAP-G homolog;chromosome condensation protein G;chromosome-associated protein G;condensin complex subunit 3;condensin subunit CAP-G;melanoma antigen NY-MEL-3 APPROVED protein-coding ENSG00000109805 HGNC:24304 12097 606280 REVIEWED 2291780 NCBP2-AS2 NCBP2 antisense RNA 2 (head to head) ASSOCIATED WITH Melanoma (inferred) 3 3 3 q29 195256110 195257502 + 196669494 196670884 + 196942623 196944013 + 8554872 12477932;14702039;21139048;21319273 152217 Q69YL0 ABBA01033761;AC011322;AK123020;AL832915;AMYH02008505;BC000257;BC007882;BC062368;CH471191;NR_024388 CAH10618;EAW53619;Q69YL0 Hs.118820 1722535;1778072;2181612 G60194;SHGC-32190;SHGC-57408 DKFZp762I1415;FLJ41024;MGC71256 APPROVED ncrna HGNC:25121 14094 VALIDATED 734022 NCAM1 neural cell adhesion molecule 1 This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011] 11 11 11 q23.1 109984979 110302094 + 112831969 113149158 + 112961247 113278436 + 1358750;1580863;2326079;2326080;2326070;2326077;2326074;2326067;2326066;2326076;2325979;2326075;2326028;6480464;6484113;6907045;8554872 10086383;10374842;11249065;12031086;15100237;15714132;19853610;20412599;8501910;8972754;9851639 10611478;10760298;10766765;10770948;10772929;11681838;11685193;11820619;11839780;11915324;12003861;12008081;12121226;12477932;12594840;12727026;12743109;12791681;12837245;12937148;1339414;14688313;14702039;14726964;14959847;15006709;15050861;15061198;15146195;15223636;15231874;15246157;15356097;1543753;15459479;15528382;15626024;15782066;15822905;15950781;16027151;16172115;16211277;16316416;16335952;16344560;16406048;16534119;16572491;16627685;16690409;16892559;17003032;17005551;17043020;17085484;1710251;17161382;17181871;17208489;17213291;17216340;17337466;17413444;17431094;17467233;17635242;17683591;17761687;17878347;17891186;17900814;17940597;17971410;17982624;17995934;18209097;18213713;18231917;18261743;18289872;18323797;18333845;18353777;18368482;18384787;18425046;18432248;18462256;18594005;18601968;18628406;18641363;18755075;18828801;18972120;18979395;18990213;19086053;19153015;19222860;19235015;19328310;19328558;19393299;19411161;19507465;19587433;19652998;19724850;19725832;19772585;19788570;19788615;19864234;19897577;19913121;19946888;20015889;20027291;20029409;20049565;20059553;20083228;20164549;20187302;20231901;20379614;20414008;20483466;20524836;20538416;20557674;20610389;20628086;20664990;20684989;20696944;20733159;20805222;20875069;20932956;21115007;21116278;21139048;21148082;21178331;21212386;21239711;21457956;21464126;21467162;21515372;21577011;21666061;21669487;21691800;21717310;21739604;21940794;21988832;22001684;22081445;22085395;22099865;22211388;22219127;22228741;22276608;22281821;22319021;22384114;22384181;22423624;22449227;22591692;22732936;22792160;23015367;23022470;23061666;23258197;23260340;23275563;23292839;23303482;23365458;23418554;23462508;23470050;23480226;23495921;23557873;23635388;23671285;23716295;23810283;23960070;24055371;24206578;24240977;24286519;24294395;24324551;24349544;24365773;24369228;24726913;24782118;2612216;2887295;3203385;3253057;3281256;3576199;7624364;7755976;7854457;8075973;8493579;8509458;8702635;8910306;9079653;9774483;9951628 4684 H7BYX6;P13591 AA029449;AB209443;ABBA01039789;ABBA01039790;AF005070;AK054570;AK054929;AK057509;AK292453;AK299865;AK303232;AK314589;AMYH02025591;AMYH02025592;AMYH02025593;AP000802;AP000880;AP000999;AP002853;AW131780;BC014205;BC019845;BC029119;BC047244;CH471065;DA231540;DA337649;FP884230;KF455513;KF455515;KF455518;KF455521;KF455522;KF511120;M17409;M17410;M22092;M22094;NG_032036;NM_000615;NM_001076682;NM_001242607;NM_001242608;NM_181351;S71824;S73101;U63041;X16841;X55322;X59400 AAA59910;AAA59911;AAA59912;AAA59913;AAB04558;AAB20698;AAB31836;AAB61615;AAH14205;AAH29119;AAH47244;ACE87816;ACT64552;BAD92680;BAF85142;BAG61719;BAH13922;CAA34739;EAW67201;EAW67202;EAW67203;EAW67204;EAW67205;EAW67206;EAW67207;EAW67208;NP_000606;NP_001070150;NP_001229536;NP_001229537;NP_851996;P13591 Hs.503878;Hs.711235;Hs.733031 1336152;1338680;1644712;1646039;1647921;1652749;1658768;1666499;1675191;1693594;1706292;1715153;1732267;1732293;1737131;1741635;1743689;1751871;1753265;1755385;1759645;1796392;2111798;2111836;2113986;2116891;2118781;2123679;2132335;2139497;2149826;2150462;2156244;2159658;2163007;2175118;2176056;2183265;5120161 D11S1016;D11S1823;D11S1838;D11S2287E;D11S2340;D11S2968;D11S3179;D11S3977;D11S3988;D11S4090;D11S4097;D11S4276;D11S4392;D11S4487;D11S4508;G15914;GDB:181600;GDB:197883;GDB:370885;NCAM;NCAM1;NCAM1_938;RH119827;RH47388;RH48783;RH48924;RH78094;SHGC-105811;SHGC-110131;SHGC-142263;SHGC-150864;SHGC-31955;SHGC-34548;SHGC-58501;SHGC-80703;STS-AA029449;STS-T55351;WI-14126;WI-15165 CD56;MSK39;N-CAM-1;NCAM;NCAM-1 OTTHUMP00000235666;antigen recognized by monoclonal antibody 5.1H11;neural cell adhesion molecule, NCAM APPROVED protein-coding ENSG00000149294 HGNC:7656 00301 116930 REVIEWED 1353799 NCBP2L nuclear cap binding protein subunit 2-like ENCODES a protein that exhibits nucleotide binding (inferred); RNA cap binding (inferred); INVOLVED IN mRNA cis splicing, via spliceosome (inferred); FOUND IN nuclear cap binding complex (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); Aroclor 1254 (ortholog) X X X q22.3 107508457 107508873 + 107037491 107037907 + 107794261 107794677 + 6480464 18029348 392517 A6PVI3 ABBA01035935;ABBA01035936;AL109946;AMYH02040219;NG_011409 A6PVI3 dJ820B18.1 pseudo HGNC:31795 INFERRED 1602046 NCCRP1 non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) INVOLVED IN positive regulation of cell proliferation; FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH paracetamol 19 19 19 q13.2 36491191 36496097 + 39687604 39692522 + 39196964 39201882 + 6480464 12477932;19056867;19322201;21139048;21182205;22087255 342897 Q6ZVX7 ABBA01040721;AC011443;AK123941;AMYH02036087;BC067874;BC092493;CH471126;NM_001001414 AAH67874;AAH92493;BAC85732;EAW56867;NP_001001414;Q6ZVX7 Hs.726934 FBXO50;NCCRP-1 F-box only protein 50;NCC receptor protein 1 homolog;non-specific cytotoxic cell receptor protein 1 homolog;nonspecific cytotoxic cell receptor protein 1 homolog protein-coding ENSG00000188505 HGNC:33739 17357 615901 PROVISIONAL 734133 NCDN neurochondrin This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 34297787 34306774 + 36023311 36032380 + 35557792 35566779 + 6480464;8554872 10524216;10684983;11162505;11984006;12477932;14559245;15790563;16196087;19946888;20360068;21044950;21139048;21163940;21890473;21906983;22360420;22797925;22863883;23000965;23383273;23687301;23956138;24816145;9628581 23154 C9J5H8;H7C2R2;Q9UBB6 AB011179;AB018739;AB018740;AB027514;ABBA01023338;ABBA01023339;AC004865;AK295979;AL536768;AMYH02000767;AW207151;BC024592;BI545092;CH471059;NM_001014839;NM_001014841;NM_014284 AAD05029;AAH24592;ABM82076;ABM85256;BAA25533;BAA77830;BAA77831;BAA85384;BAA85385;BAG58754;EAX07410;EAX07411;EAX07412;NP_001014839;NP_001014841;NP_055099;Q9UBB6 Hs.121870 1767240;1768443;2118513;5023733 A005T45;AU048745;G09494;SHGC-74563 KIAA0607 OTTHUMP00000065369;OTTHUMP00000065370;OTTHUMP00000065371 APPROVED protein-coding ENSG00000020129 HGNC:17597 10530 608458 REVIEWED 1606253 NCEH1 neutral cholesterol ester hydrolase 1 ENCODES a protein that exhibits carboxylic ester hydrolase activity (inferred); hydrolase activity (inferred); phosphate ion binding (inferred); INVOLVED IN lipid catabolic process (inferred); metabolic process (inferred); protein dephosphorylation (inferred); PARTICIPATES IN bile acid transport pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; INTERACTS WITH (-)-demecolcine; aflatoxin B1; arsenous acid 3 3 3 q26.31 170747009 170827586 - 172348435 172429207 - 172630645 172711417 - 6480464;6907045;8554872 10718198;12477932;15489334;16344560;17052604;17052608;18782767;19851296;19946888;20198315;20353815;20947831;23251661;23898208;23993462;24816145 57552 F8WE33;H7C046;Q6PIU2 AB037784;ABBA01058645;ABBA01058646;AC007919;AC069237;AK294811;AK295641;AK299422;AK304253;AK316431;AL512752;AMYH02008150;BC028734;BC047588;BG701753;BP395319;CH471052;DA856205;DB289027;DC306836;NM_001146276;NM_001146277;NM_001146278;NM_020792;XM_005247672 AAH28734;AAH47588;BAA92601;BAH11890;BAH12137;BAH13028;BAH14142;BAH14802;EAW78462;NP_001139748;NP_001139749;NP_001139750;NP_065843;Q6PIU2;XP_005247729 Hs.444099 1719183;1767941;2128477;2148955;2164756 G13221;RH123310;SHGC-77552;SHGC-77553;WI-13736 AADACL1;NCEH OTTHUMP00000210873;OTTHUMP00000210946;arylacetamide deacetylase-like 1 protein-coding ENSG00000144959 HGNC:29260 07489 613234 VALIDATED 1348698 NCF1 neutrophil cytosolic factor 1 The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 415 1749 + 74188309 74203720 + 74773962 74789376 + 1600562;1624399;1624401;1580863;6480464;6907045;7240710;8554872;8699517 16532385;2393022;7678602 10369419;10436021;10486263;10772875;10899172;11027608;11094157;11120743;11133775;11145703;11248021;11258927;11278853;11373621;11375989;11485312;11535139;11716484;11733522;11740866;11741599;11796733;11893732;12023963;12056906;12169629;12176908;12356722;12477932;12539042;12618429;12681507;12734380;12853948;12855698;14694110;15489334;15618548;15629715;15759055;16040349;16052631;16189514;16326715;16375898;16608528;16778989;16782902;17150107;17207965;17217339;17438039;17478731;17586618;17651608;17922419;17925180;18004884;18028450;18045865;18070887;18287880;18390927;18424721;18523147;18546332;18765662;18983267;19077231;19130504;19192478;19329991;19366706;19410294;19632255;19717732;19807924;19833721;19929442;19948975;2011585;20167518;20407811;20495074;20592030;20817944;20946164;21506107;21518975;21566280;21728841;21789723;21791598;21813271;21911753;21956105;22219181;22460559;22493288;22690528;22745667;22798525;22876374;23216310;23386289;23393912;23671702;23688784;23975181;2398896;24081483;24126171;2547247;2550933;2848318;7545954;7938008;8089108;8125298;8766817;9083043;9121467;9255350;9329953;9914162 653361 C9J155;H7C1S1;P14598 AC083884;AC211433;AF184614;AF330625;AF330626;AK127905;AK223217;AK292094;AK316341;AK316552;AW204865;AW207763;BC002816;BC065731;NG_009078;NM_000265;U25793;U57835;XM_005250543;XM_005250544;XR_242262 AAA93232;AAB95193;AAF34737;AAH02816;AAH65731;AAK19516;AAK19517;AAS07465;ABM84076;ABM87444;ADQ32300;BAD96937;BAF84783;BAG54596;BAG65630;BAH14712;NP_000256;P14598;XP_005250600;XP_005250601 Hs.647047;Hs.655201 5092384;5124924;5126144 G54020;RH45388;WI-6056 FLJ79451;NCF-1;NCF-47K;NCF1A;NOXO2;SH3PXD1A;p47-phox;p47phox 47 kDa autosomal chronic granulomatous disease protein;47 kDa neutrophil oxidase factor;NADPH oxidase organizer 2;OTTHUMP00000195569;SH3 and PX domain-containing protein 1A;neutrophil NADPH oxidase factor 1;neutrophil cytosol factor 1;neutrophil cytosolic factor 1 (47kda, chronic granulomatous disease, autosomal 1);neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1);nox organizer 2;nox-organizing protein 2 APPROVED protein-coding ENSG00000158517 HGNC:7660 233700;608512 REVIEWED 1602015 NCF1B neutrophil cytosolic factor 1B pseudogene ENCODES a protein that exhibits phosphatidylinositol binding (inferred); superoxide-generating NADPH oxidase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 7 7 q11.23 72634674 72649979 + 73220639 73235945 + 6480464 10772875;12176908;12477932;12853948;16720733;19077231;9329953;9847074 654816 A6NI72 ABBA01185793;ABBA01186141;AC006995;AC211485;AK298655;BC080194;NR_003186 A6NI72;BAG60825 Hs.655201 5092384;5124924;5126144 G54020;RH45388;WI-6056 NCF-1B;SH3PXD1B pseudo ENSG00000182487 HGNC:32522 PROVISIONAL 1313360 NCBP2 nuclear cap binding protein subunit 2, 20kDa The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q29 195248888 195256079 - 196662273 196669464 - 196935402 196942593 - 1580863;6480464;6907045;8554872 10786834;11331597;11333016;11545740;11551508;12093754;12226669;12374755;12434151;12477932;12676794;14702039;15040442;15130578;15146197;15342556;15361857;15489334;15574332;16452507;17190602;17332742;17499042;17873884;18029348;18369367;18426921;19417104;19648179;19668212;21139048;21145461;21326824;21890473;21906983;22365833;22505724;22939629;23000965;24457600;24778252;24816145;7478990;7651522;8069914;8601613;8682299;9049306;9111328;9342333;9409616;9933612 22916 B3KSB0;C9JKF4;C9JQX9;F8WE41;P52298 ABBA01033761;AC011322;AK093216;AK296144;AK297506;AK308192;AK315903;AK316601;AL110262;AMYH02008505;AW440347;AY644767;BC001255;BP248419;BT006842;BX537372;BX647994;CH471191;CN421262;D59253;NM_001042540;NM_007362;X84157;XM_005269313 AAH01255;AAP35488;AAV85455;ABM81629;ABM84813;BAA09599;BAG38188;BAG52672;BAG58884;BAG59919;BAH14274;CAA58962;CAD97614;EAW53620;EAW53621;EAW53622;EAW53623;EAW53624;NP_001036005;NP_031388;P52298;XP_005269370 Hs.591671 1647170;1652059;1722535;1778072;1848270;2156392;2181612 D3S4203;G60194;SHGC-32190;SHGC-57408;SHGC-77712;SHGC-77714;WI-18726 CBC2;CBP20;NIP1;PIG55 20 kDa nuclear cap-binding protein;NCBP 20 kDa subunit;NCBP interacting protein 1;NCBP-interacting protein 1;OTTHUMP00000208152;OTTHUMP00000208153;OTTHUMP00000208155;OTTHUMP00000208156;OTTHUMP00000208157;OTTHUMP00000208158;cell proliferation-inducing gene 55 protein;nuclear cap binding protein subunit 2, 20kD;nuclear cap-binding protein subunit 2 APPROVED protein-coding ENSG00000114503 HGNC:7659 05503 605133 REVIEWED 1603696 NCAPD3 non-SMC condensin II complex, subunit D3 Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008] 11 11 11 q25 131195520 131267291 - 134022337 134094426 - 134152442 134224532 - 6480464 12477932;14532007;14702039;15302935;15489334;15635413;16169070;16196087;16565220;17268547;17903297;18223322;19915589;19946888;20379614;21139048;21252943;21498573;21890473;21906983;22190034;22505724;22990118;23275444;24250222;24639526;24816145;7584044;8619474;9110174 23310 E9PJ63;E9PJM8;E9PKK4;E9PL84;E9PL95;E9PLE0;E9PQA3;E9PR72;G3V1A9;P42695 ABBA01031112;ABBA01031113;AF070553;AK025549;AK025667;AK095267;AK124878;AMYH02025833;AMYH02025834;AP001775;BC011408;BC098398;BC144524;CH471065;D29954;KF511144;NM_015261 AAC28639;AAH11408;AAH98398;BAA06224;EAW67821;EAW67822;EAW67823;EAW67824;NP_056076;P42695 Hs.438550 1341210;1645045;1740813;1749443;1752919;1759553;2131840;2156165;5113750;5127394 D11S4125;D11S4440;G06763;RH17433;RH25290;RH70189;SHGC-106782;SHGC-111172;SHGC-150869;SHGC-34635 CAP-D3;CAPD3;FLJ42888;KIAA0056;MGC104671;hCAP-D3;hHCP-6;hcp-6 OTTHUMP00000235403;OTTHUMP00000235404;condensin-2 complex subunit D3 APPROVED protein-coding ENSG00000151503 HGNC:28952 11062 609276 VALIDATED 1602014 NCF1C neutrophil cytosolic factor 1C pseudogene The neutrophil cytosolic factor 1 (NCF1) gene encodes the 47 kDa cytosolic subunit of neutrophil NADPH oxidase, which produces superoxide anion. The NCF1 gene is located in close proximity to two highly similar, multi-exon pseudogenes at chromosome 7q11.23, corresponding to this gene record and GeneID:654816. The two pseudogenes contain a dinucleotide deletion (delta-GT) in exon 2 that results in a frameshift and truncation of the open reading frame, and neither pseudogene is likely to express a protein. Recombination events between the pseudogenes and the functional NCF1 gene can inactivate the NCF1 gene and result in chronic granulomatous disease. [provided by RefSeq, Nov 2009] 7 7 7 q11.23 415 1749 + 74572384 74587802 - 75156578 75171998 - 6480464 10772875;11796733;11893732;11903052;11940577;11970841;12023963;12101222;12130503;12152222;12176908;12356722;12477932;12556460;12589359;12672956;12681507;12719414;12732142;12734380;12855698;12859985;14761962;15024088;15033459;15181005;15213464;15225553;15256399;1554499;15618548;15629715;15775784;15777282;16293794;16297854;16344560;16460309;16626305;19077231;8889548;9329953;9847074 654817 A8MVU1 ABBA01135178;AC124781;AC211470;AC245150;AF330627;AK298739;AK301397;AK316329;BC071711;BC094845;BM678845;DC389713;M25665;M55067;NR_003187;XR_250608 A8MVU1;AAA57209;AAA59901;AAK19518;BAG60886;BAG62932;BAH14700 Hs.647047;Hs.648940;Hs.655201 5092384;5124924;5126144 G54020;RH45388;WI-6056 SH3PXD1C APPROVED pseudo ENSG00000165178 HGNC:32523 01990 REVIEWED 1319058 NCBP1 nuclear cap binding protein subunit 1, 80kDa The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008] 9 9 9 q34.1 70909962 70950264 + 100395705 100436030 + 97633423 97673748 + 1580863;6480464;6907045;8554872 10786834;10973943;11333016;11340157;11545740;11551508;12093754;12226669;12374755;12434151;12477932;12676794;15040442;15130578;15164053;15361857;15489334;15574332;15680326;15901492;16156639;16186820;16189514;16317009;16344560;17081983;17190602;17289661;17332742;17499042;17643375;17873884;18369367;18423201;18781797;18974867;19026660;19417104;19608861;19648179;19668212;19738201;20020773;20350937;20371770;20508642;20691628;21139048;21145461;21402597;21447822;2148205;21693764;21890473;21906983;21963094;22365833;22446626;22493286;22586326;22863883;22939629;22952844;22990118;23222130;23537643;23825951;24457600;24654937;24778252;24816145;7478990;7651522;7937105;8069914;8812508;9049306;9111328;9342333;9409616;9933612 4686 F2Z2T1;Q09161;X6R941 AB209233;ABBA01042928;ABBA01042929;AK312807;AL162385;AL445531;AMYH02021310;BC001450;CA418527;CH471105;D32002;DB086376;NM_002486;X80030;XM_005251997;XM_006717118;XM_006717119 AAH01450;ABM86308;ABW03802;BAA06769;BAD92470;BAG35665;CAA56334;EAW58852;EAW58853;EAW58854;NP_002477;Q09161;XP_005252054;XP_006717181;XP_006717182 Hs.595669;Hs.686479 1649585;1666595;1669288;1697934;1717273;1756483;1775648;1855629;2150579;2217658 NCBP1_4020;RH102496;RH122051;RH68376;RH71150;SHGC-12947;SHGC-143489;SHGC-36266;STS-AA011612;STS-AA035493 CBP80;MGC2087;NCBP;Sto1 80 kDa nuclear cap-binding protein;NCBP 80 kDa subunit;OTTHUMP00000021753;nuclear cap binding protein subunit 1, 80kD;nuclear cap-binding protein subunit 1 APPROVED protein-coding ENSG00000136937 HGNC:7658 02717 600469 REVIEWED 8157889 NCK1-AS1 NCK1 antisense RNA 1 (head to head) 3 3 136557117 136580993 - 136841976 136862063 - 16344560 101927597 AA708729;ABBA01059108;AC011597;AMYH02007750;CB047433;DA714434;HG496078;HG496079;HG496080;HY007950;NR_110175;NR_110176;NR_110177 Hs.559587 RP11-85F14.5;SLC35G2-AS1 ncrna HGNC:49645 VALIDATED 1319760 NCF2 neutrophil cytosolic factor 2 This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010] 1 1 1 q25 156635747 156671088 - 183524697 183560056 - 183555562 183590921 - 1624401;1580863;2314435;2314452;2314453;2314430;2314450;2314451;2314448;2314434;6480464;6907045;7240710;8554872;8699517 10873554;14514646;14644473;15606902;17515452;18061195;19307699;2393022;9329126 10486263;10498624;10598813;10672014;11027608;11090627;11248021;11278853;11483497;11483614;11705402;11733522;11781392;11796733;11893732;11896062;11917128;11929750;12101222;12121978;12130503;12169629;12207919;12477932;12716910;12719414;12813044;12887891;15181005;15256399;15342556;15489334;15513967;15642721;16052631;16293794;16297854;16310324;16344560;16608528;16626305;16710414;16782902;1692159;16987007;17060455;17462995;17537988;17651608;17703412;17712795;17910042;18029348;18029359;18424721;18546332;18625437;18676680;19116138;19170196;19258923;19372141;19423521;19423540;19439231;19505917;19625176;19692168;19717732;1979859;19913121;19953534;20056178;20074641;20167518;20237496;20375610;20406964;20438785;20503287;20628086;20679349;20842512;21119665;21900546;21954286;22046141;22203994;22562447;22797925;22876374;23187810;23264412;23821607;7738010;7903171;7938008;8036496;8257426;8286749;8748143;8889548;8975869;9070911;9083043;9121467;9255350;9365277;9624165;9642115;9914162 4688 B1ALB6;B1ALB7;P19878 AB209647;ABBA01027747;AF527950;AK296672;AK298713;AK312666;AL137800;AMYH02002284;AW951155;BC001606;BM979513;BP193903;BQ029626;BT007439;BU617086;CH471067;DA420141;DA817767;DC358267;DQ314879;DQ517931;M32011;NG_007267;NM_000433;NM_001127651;NM_001190789;NM_001190794;U00777;U00778;U00779;U00780;U00781;U00782;U00783;U00784;U00785;U00786;U00787;U00788;XM_005245207 AAA36379;AAB60320;AAH01606;AAM89263;AAP36107;ABC40738;ABG74586;ABM84576;ABM86738;BAD92884;BAG35548;BAG59269;BAG60869;EAW91160;EAW91161;EAW91162;NP_000424;NP_001121123;NP_001177718;NP_001177723;P19878;XP_005245264 Hs.587558 1729059;1793174;2120871;2136796;2184122;5016478;5020948 G35510;GDB:434012;Ncf2-rs;PMC197251P6;RH11087;SHGC-76025;SHGC-76057 FLJ93058;NCF-2;NOXA2;P67-PHOX;P67PHOX 67 kDa neutrophil oxidase factor;NADPH oxidase activator 2;OTTHUMP00000033269;OTTHUMP00000033270;chronic granulomatous disease, autosomal 2;neutrophil NADPH oxidase factor 2;neutrophil cytosol factor 2;neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2) APPROVED protein-coding ENSG00000116701 HGNC:7661 01991 233710;608515 REVIEWED 1314306 NCK2 NCK adaptor protein 2 This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 2 q12 100633297 100711182 + 106361520 106510730 + 105745063 105894274 + 1580863;2300344;6480464;6484113;6907045 16493410 10022929;10026169;10887126;11027258;11240126;11514578;11557983;11950595;12074588;12110186;12206665;12213210;12470648;12477932;12794636;1333047;15096211;15117958;15350535;15489334;15764601;15900300;16169070;16189514;16273093;16337946;16525419;16604428;16636066;16713569;16752908;16835242;17803907;17906149;18086875;18555270;18723748;19242519;19807924;19956763;20237496;20379614;21822214;21880263;21900206;21949127;21992144;22745667;22797925;23349798;23455922;23524290;23533358;23602568;24058526;24287595;24338975;8889548;9737977;9843575 8440 E7EPF5;E7ERP6;E9PEE2;O43639 ABBA01073849;ABBA01073850;AC009505;AC010978;AF043119;AF047487;AMYH02004480;AMYH02004481;AMYH02004482;BC000103;BC007195;BC033176;BG480643;BM555604;BM920530;BU738133;CB959523;CH471127;DB456958;KF510749;NM_001004720;NM_001004722;NM_003581;XM_006712797;XM_006712798 AAC04831;AAC80284;AAH00103;AAH07195;AAY14937;AAY24332;EAX01753;EAX01754;NP_001004720;NP_001004722;NP_003572;O43639;XP_006712860;XP_006712861 Hs.529244;Hs.735723 2108297;2167054 NCK2_8809;RH68373 GRB4;NCKbeta OTTHUMP00000203152;OTTHUMP00000203153;OTTHUMP00000225213;SH2/SH3 adaptor protein NCK-beta;cytoplasmic protein NCK2;growth factor receptor-bound protein 4;noncatalytic region of tyrosine kinase, beta APPROVED protein-coding ENSG00000071051 HGNC:7665 05378 604930 REVIEWED 1321736 NCK1 NCK adaptor protein 1 The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jun 2010] 3 3 3 q21 135007352 135094246 + 136581050 136670446 + 136862208 136951604 + 1580863;2298729;6480464;6484113;6907045 17658244 10022833;10026169;10202139;10204582;10206341;10229072;10330411;10372803;10391903;10409713;10428862;10508618;10521462;10671570;10747096;10747847;10766742;10805734;10808124;10829062;10967110;11024037;11157752;11160719;11240126;11278241;11278436;11278500;11278553;11279207;11340081;11418237;11418612;11483358;11487585;11494134;11533668;11551902;11557983;11689432;11724572;11741599;11950595;11959995;12007418;12074588;12087092;12091389;12110186;12135674;12149262;12154000;12181570;12379115;12477932;12620186;12819203;1333046;1333047;1448108;14559906;14702039;14757753;15051508;15144186;15187089;15297625;15342556;15388330;15469942;15489334;15556869;15558067;15696170;15908432;15951569;16273093;16344560;16374509;16503409;16525419;16543952;16595635;16636066;16729043;16835242;16966330;17474147;17803907;17868192;17906149;17944934;17984209;18067320;18212058;18296648;18835251;18955169;19242519;19523119;19807924;20079431;20129698;20237496;20562827;20800603;20850195;2107526;21309750;21397687;21536650;21664272;21707536;21719533;21880263;21900206;21988832;22132889;22267732;22323535;22327338;22534133;22613834;22677168;22745667;22844345;22964333;22974441;23426619;23444376;23448571;23706161;24086708;24284073;24287595;24470497;24769494;24816145;7517397;7565724;7706279;7806213;7862111;7926767;7956370;8605018;8810325;8824201;8879209;8890167;8910519;9006905;9010224;9024622;9135144;9233798;9314836;9344857;9346925;9362449;9405464;9430661;9600074;9694849;9697839;9737977;9837978;9843378;9846482;9851874;9891069 4690 C9J0K5;C9J869;C9JAB9;C9JVV5;C9K098;H7C5C7;P16333 ABBA01059107;ABBA01059108;AC011597;AK095534;AK301460;AK312692;AMYH02007750;AMYH02007751;BC006403;BP339594;CH471052;DA265476;DA855124;DB117533;NM_001190796;NM_001291999;NM_006153;X17576;XM_005247498;XM_006713650;XM_006713651;XM_006713652 AAH06403;ABM84020;ACE87083;ACE87763;BAG35571;BAH13487;CAA35599;EAW79105;EAW79106;EAW79107;EAW79108;EAW79109;NP_001177725;NP_001278928;NP_006144;P16333;XP_005247555;XP_006713713;XP_006713714;XP_006713715 Hs.126889;Hs.477693 1337303;1657866;2178325;2180321 D3S3349;D3S3617;D3S4077;SHGC-77376 MGC12668;NCK;NCKalpha;nck-1 NCK tyrosine kinase;OTTHUMP00000216478;OTTHUMP00000216479;OTTHUMP00000216492;OTTHUMP00000216498;SH2/SH3 adaptor protein NCK-alpha;cytoplasmic protein NCK1;melanoma NCK protein;non-catalytic region of tyrosine kinase APPROVED protein-coding ENSG00000158092 HGNC:7664 02740 600508 REVIEWED 1625092 NCKAP5 NCK-associated protein 5 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene diol epoxide I 2 2 2 q21.2 127144620 128041268 - 133429361 134399118 - 132671788 133641547 - 6480464;8554872 12477932;14702039;15489334;17474147;18654987;18821565;19010793;19488044;19913121;20379614;20467438;20628086;20881960;20889312;20936779;22419738;23362303;23412934;23646285;24163370;9344857 344148 C9JYL7;H7C187;O14513 AB005217;ABBA01028204;ABBA01028205;ABBA01028206;ABBA01028207;ABBA01028208;ABBA01028209;ABBA01028210;ABBA01028211;ABBA01028212;AC010890;AC010974;AC011243;AC011755;AC011996;AC012489;AC016909;AC018877;AK057980;AK092189;AK124659;AMYH02004815;AMYH02004816;AMYH02004817;AMYH02004818;AMYH02004819;AMYH02004820;AMYH02004821;AMYH02004822;AMYH02004823;AMYH02004824;AY946007;AY946008;BC110831;CA438539;KF456712;KF510757;KF510759;NM_207363;NM_207481;XM_005263659;XM_005263660;XM_006712490;XM_006712491;XM_006712492 AAI10832;AAI72401;AAY23346;AAY23347;BAA22433;BAC03824;BAC85920;NP_997246;NP_997364;O14513;XP_005263716;XP_005263717;XP_006712553;XP_006712554;XP_006712555 Hs.537329 1339794;1341905;1654436;1673860;1696986;1708614;1708854;1713495;1713999;1714493;1715987;1723319;1725259;1727733;1728319;1770560;1783966;1852480;1852670;2111358;2127439;2135941;2136819;2140157;2155570;2158381;5022651;5118412;7185171;7186816 AFMA272ZG9;AFMB334WB9;D11S2921;D11S3270;D2S114;D2S1508E;D2S1743;D2S198E;D2S2003;D2S2256;G16364;G63131;G63441;RH101965;RH118475;RH119350;RH119429;RH119758;RH120231;RH122736;RH36375;RH46272;RH47889;RH69247;SHGC-132790;SHGC-83923;SHGC-85099;WI-18113 ERIH1;ERIH2;FLJ34870;NAP-5;NAP5 Nck associated protein 5;OTTHUMP00000204126;OTTHUMP00000204279;peripheral clock protein 2 APPROVED protein-coding ENSG00000176771 HGNC:29847 16936 608789 VALIDATED 6481060 NCKAP5-IT1 NCKAP5 intronic transcript 1 (non-protein coding) q21.2 16344560 100874346 AC011996;DA547612 Hs.690970 ncrna HGNC:41497 1314271 NCF4 neutrophil cytosolic factor 4, 40kDa The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 21054984 21075404 + 37257030 37274059 + 36860988 36878017 + 1580863;6480464;6907045;8699517;7240710;8554872 10397171;10437784;10591208;10672014;11258927;11433300;11433301;11483497;11684018;11716484;11796733;11893732;11903052;11917128;12036891;12065324;12356722;12456638;12477932;12556460;12813044;12887891;15035643;15461802;15489334;15657040;16102984;16608528;16782902;16880255;17698849;17897462;18580884;18711001;18755982;18807499;19262523;19372141;19423521;19423540;19505917;19692703;19913121;20056178;20167518;20301476;20406964;20438785;20628086;20637895;21122541;21472827;21518975;21890473;21956105;22158027;22197932;22876374;22984083;23576480;23982929;243433;24378533;7938008;8125298;8147882;8280052;8670049;8839867;8982388;9083043;9365277;9370364;9804763;9914162 4689 B0QY04;H0Y6X8;Q15080 AB025219;AB025220;ABBA01055450;AC209618;AK223324;AK290924;AL008637;AMYH02038327;AMYH02038328;BC002798;BT007346;BU076892;BX355636;CH471095;CR456528;CR542078;DQ314880;NG_023400;NM_000631;NM_013416;U50720;U50721;U50722;U50723;U50724;U50725;U50726;U50727;U50728;U50729;X77094 AAB39970;AAH02798;AAP36010;ABC40739;BAA89791;BAA89792;BAD97044;BAF83613;CAA54372;CAG30414;CAG46875;CAK54559;CAK54858;EAW60122;EAW60123;EAW60124;NP_000622;NP_038202;Q15080 Hs.474781 1661850;2157193 RH47220;RH66798 MGC3810;NCF;NCF-4;P40PHOX;SH3PXD4;p40-phox OTTHUMP00000197809;OTTHUMP00000197810;SH3 and PX domain-containing protein 4;neutrophil NADPH oxidase factor 4;neutrophil cytosol factor 4 APPROVED protein-coding ENSG00000100365 HGNC:7662 03289 601488;613960 REVIEWED 1605652 NCKAP5L NCK-associated protein 5-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; dibutyl phthalate (ortholog) 12 12 12 q13.12 48980950 49018227 - 50184929 50222208 - 49791146 49828425 - 6480464;8554872 10997877;12477932;14702039;15146197;20936779;21906983;22505724;23314748;24255178 57701 H7C1V4;Q9HCH0 AB046822;ABBA01031536;ABBA01031537;AC131157;AF370366;AK093900;AMYH02026449;AMYH02026450;BC007998;BC020433;BC033253;BC110599;BU617503;BX327000;CN359941;CN359946;NM_001037806;XM_005269050;XM_006719524;XM_006719525 AAH07998;AAH33253;AAI10600;AAQ15202;BAB13428;NP_001032895;Q9HCH0;XP_005269107;XP_006719587;XP_006719588 Hs.143067 5024761;5037552 D8S2279;RH36905 FLJ36581;FP1193;KIAA1602;MGC129863 NCKAP5-like;OTTHUMP00000211198 protein-coding ENSG00000167566 HGNC:29321 615104 VALIDATED 2312879 NCLP1 nucleolin pseudogene 1 9 9 9 q34.3 110221007 110223695 - 139707240 139709928 - 136812788 136815476 - 100302751 ABBA01022722;AL355987;AMYH02021911;NG_012793;NG_031950 1679593 RH65048 pseudo HGNC:35472 INFERRED 1322714 NCKIPSD NCK interacting protein with SH3 domain The protein encoded by this gene is localized exclusively in the cell nucleus. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 3 p21 48667186 48679261 - 48700419 48723366 - 48673839 48685933 - 1580863;6480464 10619843;10648423;11157975;11241789;11278500;11509578;12477932;14559906;15095401;15324660;16189514;16253999;16990791;17398099;17474147;17537434;18654987;18850735;19380743;19460367;19807924;22082156;22505724;22745667;23024796;23342115;23765104;24250222;24255178;24340049 51517 C9JC20;C9JMQ4;C9JSC3;F8WCR8;H7C0T9;H7C2K2;Q9NZQ3 AB069981;AB069982;ABBA01024641;ABBA01024642;AC141002;AF178432;AF303581;AI863106;AJ242655;AK294151;AMYH02006723;AY453794;BC006255;BC016052;BC026280;CH471055;HY010884;HY050918;NM_016453;NM_184231;XM_005265223;XM_006713205 AAF35985;AAH16052;AAH26280;AAK09094;AAR83735;ADZ15538;BAB63204;BAB63205;BAG57476;CAB65089;EAW64915;EAW64916;EAW64917;EAW64918;NP_057537;NP_909119;Q9NZQ3;XP_005265280;XP_006713268 Hs.655006 2134261 SHGC-76934 AF3P21;DIP;DIP-1;DIP1;MGC23891;ORF1;SPIN90;VIP54;WASLBP;WISH 54 kDa VacA-interacting protein;54 kDa vimentin-interacting protein;90 kDa SH3 protein interacting with Nck;NCK-interacting protein with SH3 domain;OTTHUMP00000164823;OTTHUMP00000210186;SH3 adapter protein SPIN90;SH3 protein interacting with Nck, 90 kDa;WASP-interacting SH3-domain protein;dia interacting protein;dia-interacting protein 1;diaphanous protein interacting protein;diaphanous protein-interacting protein;wiskott-Aldrich syndrome protein-interacting protein APPROVED protein-coding ENSG00000213672 HGNC:15486 09450 606671 REVIEWED 2974665 NCLP2 nucleolin pseudogene 2 X X X q26.3 134595983 134597444 - 134209166 134210627 - 135075136 135076597 - 100379142 ABBA01042521;AL590325;AMYH02040539;NG_016573 bA85L21.1 pseudo HGNC:35473 INFERRED 1606072 NCMAP noncompact myelin associated protein ENCODES a protein that exhibits structural constituent of myelin sheath (ortholog); INVOLVED IN peripheral nervous system myelin formation (ortholog); positive regulation of myelination (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of plasma membrane (ortholog); paranode region of axon (ortholog); Schmidt-Lanterman incisure (ortholog); INTERACTS WITH atrazine; genistein; mifepristone 1 1 1 p36.11 23249057 23262966 + 24882567 24935819 + 24556076 24609328 + 6480464;8554872 12477932;15489334;16710414;18650334 400746 Q5T1S8 ABBA01059908;ABBA01059909;AK124519;AL445686;AMYH02000520;AMYH02000521;AMYH02000522;BC050474;BC127785;BC147014;BC147015;CB961010;CH471134;NM_001010980;XM_005245872 AAI27786;AAI47015;AAI47016;EAW95136;NP_001010980;Q5T1S8;XP_005245929 Hs.200253 5014063;5022450;5117897;7186214 D10S275;D15S1390;D22S275;GDB:631813 C1orf130;FLJ42528;MP11 OTTHUMP00000003372;myelin glycoprotein 11;myelin protein of 11 kDa;noncompact myelin-associated protein;uncharacterized protein C1orf130 APPROVED protein-coding ENSG00000184454 HGNC:29332 16963 VALIDATED 732467 NCKAP1 NCK-associated protein 1 ENCODES a protein that exhibits protein complex binding; Rac GTPase binding; INVOLVED IN positive regulation of Arp2/3 complex-mediated actin nucleation; positive regulation of lamellipodium assembly; Rac protein signal transduction; PARTICIPATES IN E-cadherin signaling pathway; platelet-derived growth factor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; focal adhesion; SCAR complex; INTERACTS WITH arsenous acid; bis(2-chloroethyl) sulfide; cobalt dichloride 2 2 2 q32 177385839 177499386 - 183789579 183903586 - 182924851 183038858 - 1580863;6480464;6484113;8554872 10673335;11418237;12181570;12477932;14506234;14560022;14702039;15048123;15048733;15294869;15296760;15324660;15489334;15749123;16055720;17353931;18560548;18854154;19056867;21139048;21706016;21875946;21890473;21906983;22586326;22779921;22863883;23000965;24255178;25027693;8605018;8889548;9148763;9344857;9417078;9463375;9628581 10787 Q9Y2A7 AB011159;AB014509;ABBA01062302;ABBA01062303;ABBA01062304;ABBA01062305;ABBA01062306;ABBA01062307;AC064871;AC108514;AI215133;AK001291;AK002153;AK292914;AMYH02005373;BC015025;BT007033;CA314471;CH471058;NM_013436;NM_205842;XM_006712200;XM_006712201 AAH15025;AAP35681;AAX93118;AAY24196;ABM84471;ABM84735;BAA25513;BAA77295;BAF85603;BAG50887;BAG51019;EAX10952;EAX10953;EAX10954;EAX10955;EAX10956;EAX10957;NP_038464;NP_995314;Q9Y2A7;XP_006712263;XP_006712264 Hs.603732;Hs.708541 1338451;1724129;1775172;7187882 D2S350;RH12037;RH122355 FLJ11291;HEM2;KIAA0587;MGC8981;NAP 1;NAP1;NAP125;p125Nap1 OTTHUMP00000163460;OTTHUMP00000163461;membrane-associated protein HEM-2 protein-coding ENSG00000061676 HGNC:7666 05353 604891 VALIDATED 1323803 NCKAP1L NCK-associated protein 1-like This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010] 12 12 12 q13.1 54543329 54588759 + 54891495 54936899 + 54497711 54543115 + 1580863;6480464;8554872 11337467;12477932;16055720;16344560;16417406;17696648;17875758;1932118;19946888;21890473;21906983;22505724;23000965;23022380;23251661;24816145;7643388 3071 F8W050;P55160 ABBA01008375;AC025570;AC068789;AC079313;AI924363;AK300783;AK314012;AMYH02026537;AU100069;AW575485;BC001604;BC064997;BC084547;BC093769;BC093771;BC143355;CH471054;CQ834718;DA820115;M58285;NM_001184976;NM_005337 AAA35964;AAH01604;AAH64997;AAH84547;AAH93769;AAH93771;BAG36723;BAG62447;CAH05574;EAW96786;EAW96787;NP_001171905;NP_005328;P55160 Hs.182014 2157289;2182792 SHGC-12875;STS-H47633 HEM1 OTTHUMP00000242267;OTTHUMP00000242269;hematopoietic protein 1;membrane-associated protein hem-1 APPROVED protein-coding ENSG00000123338 HGNC:4862 00781 141180 REVIEWED 1343218 NCLN nicalin INVOLVED IN regulation of signal transduction (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; atrazine; cyclosporin A 19 19 19 p13.3 3122250 3145978 + 3185875 3209573 + 3185877 3209575 + 737633;1580863;6480464 12477932 11076863;11230166;14702039;15057824;15257293;15489334;15489336;16196087;16381901;17261586;18029348;19946888;21139048;21890473;21906983;21963094;21987572;22268729;22505724;22939629;24654937;24816145 56926 K7ELZ9;K7EMW4;K7EN96;K7ENM2;K7EQ66;Q969V3 ABBA01002802;ABBA01002803;ABBA01002804;AC005331;AC011547;AK022309;AK125002;AK172848;AK314044;AL136567;AL365369;AMYH02035240;AX040070;BC003076;BC007275;BC008920;BC010064;BC013283;BC019091;BC025926;CH471139;CR533566;FB794076;FB826795;HB664135;HB696854;KF456472;NM_020170;XM_005259596 AAC27667;AAH03076;AAH07275;AAH08920;AAH10064;AAH13283;AAH19091;AAH25926;BAD18812;BAG36753;CAB66502;CAB96945;CAC16637;CAG38597;CAL37888;CAW38766;CAW54087;CBC04638;CBC26779;EAW69330;EAW69331;EAW69332;EAW69333;EAW69334;EAW69335;NP_064555;Q969V3;XP_005259653 Hs.657032 1659630;1712158;2122164;2167002;2181039 A002R35;A009G37;G54129;RH18190;WI-15783 NET59 nicalin homolog (zebrefish);nicastrin-like protein APPROVED protein-coding ENSG00000125912 HGNC:26923 07126 609156 VALIDATED 1354049 NCOA4P1 nuclear receptor coactivator 4 pseudogene 1 14 14 14 q23.3 46403817 46406851 - 66344751 66347785 - 65878033 65881067 - 326605 ABBA01023731;AL391261;AMYH02029383;NG_002594 NCOA4P APPROVED pseudo HGNC:20022 INFERRED 1348400 NCOA4 nuclear receptor coactivator 4 This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009] 10 10 10 q11.2 42865707 42891332 + 51565108 51590734 + 46005088 46030714 - 1580863;2293533;2293536;2293537;2293535;2293534;6480464;6907045;7240710;8699517;8554872 11161850;11561770;12368219;15166229;16580389 10085091;10318905;10347167;10517667;10969079;11076863;11230166;11256614;11404460;11779876;11786418;11818501;12068007;12477932;12612084;12649293;12881713;12897377;15489334;15489336;15563469;15572661;15604093;15609325;15642480;15772083;15805579;16344560;16381901;16385451;16713569;16751776;16762319;17081983;17919607;18091327;18156210;18624398;18660489;19487296;19730683;20012784;20139978;20167864;20717903;20877624;21085629;21139048;21890473;21906983;21963094;22505724;22661295;22887727;24122203;24695223;24910095;7529046;8180971;8187085;8290261;8643607;9192845;9636157;9892017 8031 B2R5V0;B4DF87;B4DZ85;Q13772;Q96E88 AB064669;ABBA01033538;ABBA01033539;AK129911;AK130612;AK292480;AK293978;AK302794;AK304123;AK310849;AK312325;AL162047;AL450342;AMYH02023033;AMYH02023034;AY425959;BC001562;BC012736;CH471260;DA415606;DA860108;DB075100;L49399;NG_023372;NM_001145260;NM_001145261;NM_001145262;NM_001145263;NM_005437;X71413;X77548 AAC37591;AAH01562;AAH12736;AAR07952;ABM82524;ABM85718;ACT64385;ACT64386;BAB93520;BAF85169;BAG35247;BAG57348;BAG63997;BAG65022;CAA50536;CAA54673;CAB82390;CAL38205;EAW53686;EAW53687;EAW53688;EAW53689;NP_001138732;NP_001138733;NP_001138734;NP_001138735;NP_005428;Q13772 Hs.643658;Hs.709644 1689650;1771131;2107429;2111115;2115381;2171902;5022600;5114322 Bda68f05;D10S1389E;D10S490E;NCOA4_7912;RH1574;RH44523;WI-17185;WI-19959 ARA70;DKFZp762E1112;ELE1;NCoA-4;PTC3;RFG 70 kDa AR-activator;70 kDa androgen receptor coactivator;OTTHUMP00000019601;OTTHUMP00000019602;OTTHUMP00000019603;RET-activating gene ELE1;androgen receptor coactivator 70 kDa protein;androgen receptor coactivator, 70-kD;androgen receptor-associated protein of 70 kDa;papillary thyroid carcinoma 3;ret fused;ret-activating protein ELE1 APPROVED protein-coding ENSG00000266412 HGNC:7671 03584 188550;601984 REVIEWED 1342988 NCL nucleolin Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 226095812 226105543 - 232319459 232329208 - 231454748 231464494 - 1580863;6480464;6907045 10393184;10503877;10567518;10660576;10967121;10983978;11115514;11162542;11438699;12027446;12029088;12096904;12138209;12147681;12185196;12324461;12388589;12427757;12429849;12477932;12506112;12559966;12565890;12634843;12777385;12804115;12944467;14559993;14623863;14636574;14638862;14679209;14702039;14973189;14978336;15044383;15047060;15064750;15121898;15161933;15173179;15302935;15303970;15371412;15492114;15674325;15815621;15823039;15848144;16135517;16153722;16156786;16196087;16212410;16226712;16245305;16329155;16341674;16403913;16508016;16568080;16571724;16582619;16582966;16601700;16648475;16698799;16751805;16777843;16889753;16964243;16982033;17081983;17130237;17215513;17220478;17255095;17267499;17289661;17314511;17320986;17361185;17403666;17535846;17620599;17626252;17674968;17692122;17765891;17767916;17928403;17974993;18029348;18258596;18292223;18298663;18299322;18321972;18457437;18504038;1860869;18618420;18701711;18781797;18789156;18809582;18850631;19026635;19060367;19135240;19174163;19225898;19270065;19322201;19332556;19393617;19409963;19454010;19471022;19515042;19554553;19581307;19596686;19615975;19657047;19710015;19738201;19757191;19765186;19836239;19864385;19884766;19946888;20007282;20011528;20020773;20075200;20195357;20221403;20431927;20473970;20506485;20571027;20628027;20936779;21044950;21048921;21060685;21139048;21145461;21151833;21152024;21182205;21203423;21252943;21257709;21281639;21282530;21310483;21386990;21436219;21440621;21466159;21474449;21575138;21575459;21642987;21693764;21723257;21812966;21825151;21841784;21853274;21859890;21890473;21906983;21907836;21938743;22049078;22053931;22079093;22103682;22113938;22130536;22178446;22234250;22318319;22349377;22354986;22362753;22412018;22433872;22505724;22586326;22617883;22623428;22633274;22675465;22689669;22693611;22743058;22751105;22797925;22810585;22863883;22909121;22939629;22952844;23000965;23076205;23125841;23132587;23145133;23146273;23151878;23161541;23184937;23246001;23305559;23353999;23382938;23398456;23443559;23463506;23471483;23568457;23599269;23602568;23610125;23726991;23728934;23763304;23824909;23862649;23918302;2394707;24027323;24082117;24147044;24292944;24332808;24344309;24452204;24457600;24469254;24583282;24591637;24657165;24690621;24713430;24816145;2737305;3409881;7642087;7993898;8065311;8321232;8530516;8567649;8620867;8663258;9388266;9512561;9642267;9822633;9918513 4691 B3KM80;C9J1H7;C9JLB1;C9JWL1;C9JYW2;H7BY16;P19338;Q9BQ02 ABBA01002057;AC017104;AK000221;AK000250;AK001314;AK091742;AK095897;AK122805;AK127608;AK128584;AMYH02005969;AY320411;BC002343;BC006494;BC006516;BM761058;BQ001029;CH471063;M60858;NM_005381 AAA59954;AAH02343;AAH06494;AAH06516;AAY24247;BAC03738;BAC87055;BAG50892;BAG53161;EAW70960;EAW70961;EAW70962;EAW70963;NP_005372;P19338 Hs.79110 1679593;1713497;1734780;1793304;1858383;2165752;2217660;5017595 D2S1557E;D2S2594;NCL;NCL_3022;PMC207647P1;RH11536;RH120232;RH65048 C23;FLJ45706;FLJ59041 OTTHUMP00000204507 APPROVED protein-coding HGNC:7667 01245 164035 REVIEWED 1317043 NCOA5 nuclear receptor coactivator 5 This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Two alternatively spliced transcript variants for this gene have been described. However, the full length nature of one of the variants has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 q12-q13.12 41401083 41430040 - 44689624 44718580 - 46060985 46089941 - 1580863;6480464;8554872 10997877;11113208;11780052;12477932;15073177;15146197;16094384;16159877;17081983;20211142;20650312;21110914;21139048;21645569;21833088;21900206;22939629;24163370;24250222;24332041;24457600;25027693 57727 Q5JY17;Q9HCD5 AB046857;ABBA01052674;AF230533;AF470686;AL035662;AL162458;AMYH02037156;BC056872;BC140836;BC151133;CH471077;CN369226;CS185596;NM_020967;XM_005260474;XM_005260475 AAG36793;AAI40837;AAI51134;AAO33457;BAB13463;CAJ42777;EAW75764;EAW75765;EAW75766;EAW75767;EAW75768;EAW75769;EAW75770;NP_066018;Q9HCD5;XP_005260531;XP_005260532 Hs.654991 1645217;1645219;1653209;1678329;1693342;2117518;2142670;2148088 A001X16;AL034496;D20S585E;G19972;RH68083;RH91408;SGC34149;STS-D25957 CIA;NCoA-5;bA465L10.6 OTTHUMP00000031198;coactivator independent of AF-2 APPROVED protein-coding ENSG00000124160 HGNC:15909 14813 REVIEWED 732737 NCOA2 nuclear receptor coactivator 2 The NCOA2 gene encodes nuclear receptor coactivator 2, which aids in the function of nuclear hormone receptors. Nuclear hormone receptors are conditional transcription factors that play important roles in various aspects of cell growth, development, and homeostasis by controlling expression of specific genes. Members of the nuclear hormone receptor superfamily, which includes the 5 steroid receptors and class II nuclear receptors (see below), are structurally characterized by 3 distinct domains: an N-terminal transcriptional activation domain, a central DNA-binding domain, and a C-terminal hormone-binding domain. Before the binding of hormone, steroid receptors, which are sometimes called class I of the nuclear hormone receptor family, remain inactive in a complex with heat-shock protein-90 (MIM 140571) and other stress family proteins. Binding of hormone induces critical conformational changes in steroid receptors that cause them to dissociate from the inhibitory complex, bind as homodimers to specific DNA enhancer elements associated with target genes, and modulate that gene's transcription. After binding to enhancer elements, transcription factors require transcriptional coactivator proteins to mediate their stimulation of transcription initiation (Hong et al., 1997 [PubMed 9111344]).[supplied by OMIM, Nov 2010] 8 8 8 q13.3 67021935 67313703 - 71021997 71316062 - 70109768 70403827 - 1580863;2326123;5128512;5144138;5147892;6480464;5688349;5688351;6484113;6484676;7421504;8693397;8554872 11306337;16394250;17163421;19471584;19818358;20166126;20660062;21784126;23759327 10381882;10454563;10478845;10594042;10598588;10617585;10692587;10706629;10748178;11014206;11050077;11085509;11117530;11250900;11266503;11376110;11477071;11500849;11514567;11518802;11675124;11704662;11818499;11851396;11931740;11937504;11964378;11971985;11981034;11986669;12024042;12050280;12060666;12082103;12089346;12114525;12130539;12145209;12151000;12208521;12403846;12477932;12481024;12503607;12554772;12588987;12612084;12630920;12676584;12682292;12714702;12756300;12796488;12810069;12893883;12970370;14500758;14578343;14593076;14662770;14757047;14766010;14966121;15026545;15072553;15184363;15207724;15231721;15557560;15563469;15572661;15641800;15657427;15684378;15698540;15731352;15766871;15919723;15988012;16051665;16344550;16410316;16613851;16645043;16649994;16728408;16860316;16923966;16930961;16957778;17081983;17363140;17476305;17697320;17704997;18174919;18267973;18281529;18499756;18511550;18656523;18660489;18798693;18845648;19052561;19074285;19095746;19183483;19240160;19255064;19264843;19277704;19453261;19471022;19641626;19805480;19828458;19913121;20047289;20195357;20374707;20379614;20448036;20628086;21049972;21059860;21139048;21195347;21220509;21370964;21492233;21735116;22034177;22337624;22379092;22581837;23000965;23132854;23144319;23160820;23247143;23252872;23319000;23462962;23463663;23542129;23707616;23936147;24124145;24187139;24258712;24816145;24856853;8670870;9111344;9192892;9430642;9558366;9590696;9717843;9751728;9774463;9812974;9920895 10499 E5RFN9;E7EWM1;H0YBB6;Q15596 ABBA01041938;ABBA01041939;ABBA01041940;AC021558;AC022730;AC084251;AC090731;AK298528;AK308426;AMYH02018166;AMYH02018167;AMYH02018168;AMYH02018169;AMYH02018170;AMYH02018171;AW504723;BC047111;BC092442;BC114383;CH471068;CK141607;CQ834204;EF374064;NM_006540;X97674;XM_005251128;XM_005251129;XM_005251130;XM_005251131;XM_005251132;XM_005251133 AAH92442;AAI14384;ABN46991;BAG60730;CAA66263;CAH05317;EAW86963;NP_006531;Q15596;XP_005251185;XP_005251186;XP_005251187;XP_005251188;XP_005251189;XP_005251190 Hs.446678;Hs.595378 1677929;1720031;1760419;1774855;1792934;1855106;2152054;2159364;2174716;2180578;2217662 A006O24;D8S2130;NCOA2_3768;PMC170950P3;RH123810;RH12853;RH91396;SHGC-142567;SHGC-58132;STS-H93122;STS-X97674 GRIP1;KAT13C;MGC138808;NCoA-2;SRC2;TIF2;bHLHe75;hTIF2 OTTHUMP00000227193;class E basic helix-loop-helix protein 75;glucocorticoid receptor-interacting protein-1;transcriptional intermediary factor 2 APPROVED protein-coding ENSG00000140396 HGNC:7669 09066 601993 VALIDATED 735677 NCOA6 nuclear receptor coactivator 6 The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] 20 20 20 q11 30051663 30162529 - 33302578 33413433 - 34714774 34825630 - 1580863;5128512;6480464;9479053 16394250;22663077 10497212;10567404;10681503;10788465;10823961;10847592;10866662;11158331;11302752;11443112;11517327;11704680;11773444;11780052;11912212;12039952;12168954;12189208;12215545;12477932;12482968;12519782;12724417;12754253;14578865;14638867;14645241;14734562;14960326;15231748;15302935;15604093;15764585;16794079;17021013;17178841;17500065;17761849;17925232;18029348;18031289;18263591;18462265;18552123;18660489;18854154;19047629;19329434;19556342;20379614;20721975;21292004;21330447;21552418;22939629;23314748;24368734;7536696;8263591;8724849;8758910 23054 F6M2K2;F6M2K3;Q14686 ABBA01019181;ABBA01019182;ABBA01019183;ABBA01019184;ABBA01019185;ABBA01019186;ABBA01019187;AF128458;AF171667;AF177388;AF208227;AF245115;AI498955;AK027040;AL049709;AL109824;AMYH02036984;AMYH02036985;BC035676;BC047886;BC069829;BC114613;BC136272;BU187688;CH471077;D80003;JF707637;JF707638;JF707639;KF511298;L37706;NM_001242539;NM_014071;XM_005260348;XM_006723750;XM_006723751;XM_006723752;XM_006723753;XM_006723754;XM_006723755 AAF13595;AAF16403;AAF37003;AAF71829;AAF78480;AAI14614;AAI36273;AEG79564;AEG79565;AEG79566;BAA11498;EAW76254;EAW76255;NP_001229468;NP_054790;Q14686;XP_005260405;XP_006723813;XP_006723814;XP_006723815;XP_006723816;XP_006723817;XP_006723818 Hs.368971;Hs.736403 1661182;1672343;1739439;1855214;2110593;2174885;2177347;2178745 1444;A008I23;D20S712E;G18125;GDB:314031;NCOA6_3104.2;RH25395;RH78465 AIB3;ANTP;ASC2;HOX1.1;HOXA7;KIAA0181;NRC;PRIP;RAP250;TRBP NRC RAP250;OTTHUMP00000030705;OTTHUMP00000030706;PPAR-interacting protein;activating signal cointegrator 2;activating signal cointegrator-2;amplified in breast cancer protein 3;amplified in breast cancer-3 protein;cancer-amplified transcriptional coactivator ASC-2;nuclear receptor coactivator RAP250;nuclear receptor-activating protein, 250 kDa;peroxisome proliferator-activated receptor interacting protein;peroxisome proliferator-activated receptor-interacting protein;thyroid hormone receptor binding protein;thyroid hormone receptor-binding protein APPROVED protein-coding ENSG00000198646 HGNC:15936 05599 605299 REVIEWED 1348152 NCOR1P1 nuclear receptor corepressor 1 pseudogene 1 20 20 20 p11.1 26100548 26111173 - 26084052 26094677 - 26103416 26114041 - 11780052;12477932 149934 Q9H4R4 ABBA01005169;AL391119;AMYH02036887;BC132806;BC132808;EH318080;NR_003678 Hs.711274 2177466 L29954 C20orf191;bB329D4.2 APPROVED pseudo ENSG00000240108 HGNC:16724 VALIDATED 1319167 NCOA1 nuclear receptor coactivator 1 The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 2 p23 24648250 24833882 + 24714919 24993571 + 24492050 24770702 + 2298984;2293529;2306463;2293530;2326123;5128512;5144138;5147892;6480464;6484113;6484676;7421504;8554872 11306337;11850121;14751175;14871982;16394250;17163421;17902051;19471584;19818358;21784126 10082574;10207113;10224118;10334992;10334993;10347167;10379889;10381882;10449719;10454563;10454579;10497212;10508479;10551785;10558993;10567404;10567563;10594042;10598586;10652338;10659697;10660621;10688660;10713182;10722692;10731636;10757795;10760302;10809226;10847592;10848596;10934189;10935544;10938099;11003650;11014206;11027271;11050077;11069927;11075811;11076796;11113179;11117530;11124027;11136553;11149488;11165056;11250900;11266503;11330046;11358671;11376110;11500849;11514567;11574547;11689423;11698662;11704662;11713256;11773079;11818499;11831720;11864604;11867769;11891224;11971985;12024042;12039952;12072427;12082103;12114525;12118039;12138096;12145209;12163482;12189208;12208951;12403846;12477932;12482985;12529333;12554772;12569182;12574227;12578355;12612084;12630920;12665583;12714702;12738788;12796488;12909012;12917342;12933903;12954634;14601091;14715875;14722092;14757047;14993689;15026545;15184363;15231721;15249124;15256534;15313887;15367689;15456935;15530426;15572376;15572661;15604093;15615775;15641800;15661163;15688032;15695802;15774904;15862975;15919756;16269961;16352595;16456540;16538531;16606617;16723356;16728408;16775354;16882880;16957778;17135255;17353003;17363140;17429319;17468099;17471507;17475621;17476305;17786964;17919607;18267973;18284209;18511550;18660489;18798693;18845648;19039327;19064572;19095746;19183483;19203349;19255064;19276281;19453261;19485965;19763509;19913121;19934375;19953635;20003447;20145129;20184719;20368990;20379614;20608937;20628086;20682316;21059860;21273440;21292004;21760925;22072566;22142990;22174377;22328528;22371500;23160820;23975195;24189439;24648347;7481822;8616895;8754792;9041124;9121466;9171239;9192892;9192902;9223281;9223431;9259327;9296499;9328345;9346901;9407140;9427757;9445475;9488734;9556555;9575154;9590696;9626662;9642216;9744270;9751500;9751728;9773983;9774463;9782096;9786846;9804773;9812974;9832502;9849963;9874563;9878542 8648 B5MCN7;Q15788 ABBA01045118;ABBA01045119;ABBA01045120;ABBA01045121;ABBA01045122;AC013459;AC093798;AJ000881;AJ000882;AK226063;AK290019;AMYH02003421;AMYH02003422;AMYH02003423;BC035976;BC111533;BC111534;BE675986;BF975824;CB047008;CH471053;EF660499;NG_029014;NM_003743;NM_147223;NM_147233;U19179;U40396;U59302;U90661;XM_005264625;XM_005264626;XM_005264627;XM_005264628;XM_006712126 AAA64187;AAB50242;AAC50305;AAC50631;AAI11534;AAI11535;AAX93184;ABS29266;BAF82708;CAA04371;CAA04372;EAX00746;EAX00747;EAX00748;NP_003734;NP_671756;NP_671766;Q15788;XP_005264682;XP_005264683;XP_005264684;XP_005264685;XP_006712189 Hs.596314 1648688;1652389;1658320;1670956;1675055;1676586;1690924;1696978;1739953;1772589;1776078;1792932;2128979;2129082;2159967 A007I26;D2S1969;D2S2066;D2S2124;D2S2912;G09672;PMC170950P2;RH101961;RH45844;RH80592;RH91145;STS-AA007451;STS-N23300;WI-11298;WI-20578 F-SRC-1;KAT13A;MGC129719;MGC129720;NCoA-1;RIP160;SRC-1;SRC1;bHLHe42;bHLHe74 Hin-2 protein;OTTHUMP00000155181;OTTHUMP00000155182;OTTHUMP00000155183;OTTHUMP00000201137;PAX3/NCOA1 fusion protein;class E basic helix-loop-helix protein 74;protein Hin-2;renal carcinoma antigen NY-REN-52;steroid receptor coactivator 1;steroid receptor coactivator-1 APPROVED protein-coding ENSG00000084676 HGNC:7668 04070 602691 REVIEWED 6481140 NCOR1P3 nuclear receptor corepressor 1 pseudogene 3 7 7 57659500 57669798 + 57599794 57610092 + 100874183 ABBA01028306;AC064862;AMYH02015781;NG_032541 pseudo HGNC:42996 INFERRED 1603583 NCOA7 nuclear receptor coactivator 7 ENCODES a protein that exhibits ligand-dependent nuclear receptor transcription coactivator activity; nuclear hormone receptor binding; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; FOUND IN intracellular; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 6 6 6 q22.32 126854350 126994612 + 126102307 126253176 + 125781121 125932030 + 6480464 10395741;11076863;11230166;11256614;11971969;12139968;12477932;12880961;14574404;14702039;15489334;15489336;16344560;16381901;17079118;17391516;18497940;20562859;21610108;22863883;23872634;24816145;8197458;9259327 135112 B3KXK4;H0Y5F6;H0Y6T0;Q5TF96;Q5TF97;Q5TF98;Q8N3C8;Q8NI08 AB074156;AB074157;ABBA01025945;ABBA01025946;ABBA01025947;AF493978;AJ420542;AK094706;AK127512;AK294558;AK307395;AL035689;AL078594;AL136163;AL832621;AL832628;AL834442;AMYH02014435;AMYH02014436;AY364254;BC009399;BC033612;BC036461;BC039853;BC071782;BC137094;BC137095;BX537385;CH471051;DA770225;DA992384;KC238672;NM_001122842;NM_001199619;NM_001199620;NM_001199621;NM_001199622;NM_181782;XM_005266822;XM_006715340;XM_006715341;XR_245505 AAH09399;AAH33612;AAH36461;AAH71782;AAI37095;AAI37096;AAM27392;AAQ76813;AGW32499;BAC04402;BAE45731;BAE45732;BAG54516;BAH11810;CAD39102;CAD89948;CAD90002;CAD97627;CAL37773;CAL38057;CAL38361;CAL38384;CAL38746;EAW48130;EAW48131;EAW48132;EAW48133;EAW48134;NP_001116314;NP_001186548;NP_001186549;NP_001186550;NP_001186551;NP_861447;Q8NI08;XP_005266879;XP_006715403;XP_006715404 Hs.171426 1652745;1722555;1753723;1756029;1775321;1848526;1849394;2129602;2143289;2173061;5015861;5022578;5024039;5109281;7185938 A002T33;D10S16;D16S325;D1S1423;D1S1425;D6S1183E;D6S1476;G60205;NIB560;RH46075;RP_L38_1;SHGC-107769;SHGC-142839;SHGC-32962 ERAP140;ESNA1;FLJ45605;MGC88425;NCOA7-AS;Nbla00052;Nbla10993;TLDC4;dJ187J11.3 140 kDa estrogen receptor-associated protein;OTTHUMP00000017141;OTTHUMP00000017142;OTTHUMP00000017143;OTTHUMP00000017144;TBC/LysM-associated domain containing 4;estrogen nuclear receptor coactivator 1;estrogen receptor associated protein 140 kDa;putative protein product of Nbla00052;putative protein product of Nbla10993 protein-coding ENSG00000111912 HGNC:21081 14814 609752 VALIDATED 1348186 NCR1 natural cytotoxicity triggering receptor 1 ENCODES a protein that exhibits receptor signaling protein activity (inferred); INVOLVED IN cellular defense response (inferred); intracellular signal transduction (inferred); regulation of natural killer cell mediated cytotoxicity (inferred); FOUND IN SWI/SNF complex (ortholog); INTERACTS WITH (+)-catechin; all-trans-retinoic acid; benzo[a]pyrene 19 19 19 q13.42 52458112 52465042 + 55417504 55424454 + 54906150 54913071 + 1580863;6480464 10049942;11907104;12477932;12731048;12951052;12960161;14504081;14635045;14754506;15328155;15489334;15654827;15657183;15728472;16262248;16690951;17056548;17207965;17875681;17972960;18023431;18275895;18385154;18713971;18941207;19498463;20023661;20237496;20638936;21030563;21191411;21214542;21329668;21364281;21849674;22044312;22105417;22198715;22212381;22231698;22253448;22360401;22496218;22505144;22532190;22615207;22621189;23311919;23429988;23490421;23665989;23900021;24673109;9314561;9625766;9730896 9437 M0QYD1;O76036 ABBA01068147;AC011476;AC011501;AC245128;AJ001383;AJ006121;AJ006122;AJ006123;AMYH02036445;AMYH02036446;AY346373;BC064806;CH471135;CU151839;CU459006;NM_001145457;NM_001145458;NM_001242356;NM_001242357;NM_004829 AAH64806;AAQ54328;ADQ32569;CAA04714;CAA06872;CAA06873;CAA06874;EAW72308;EAW72309;EAW72310;EAW72311;EAW72312;NP_001138929;NP_001138930;NP_001229285;NP_001229286;NP_004820;O76036 Hs.97084 1677418 RH93107 CD335;FLJ99094;LY94;NK-p46;NKP46;hNKp46 NK cell-activating receptor;lymphocyte antigen 94 homolog (activating NK-receptor);lymphocyte antigen 94 homolog (activating NK-receptor; NK-p46);natural killer cell p46-related protein protein-coding ENSG00000189430 HGNC:6731 05167 604530 VALIDATED 1601692 NCR3LG1 natural killer cell cytotoxicity receptor 3 ligand 1 B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011] 11 11 11 p15.1 17503148 17528717 + 17373279 17398868 + 17351732 17377321 + 6480464 12477932;18187620;19528259;21422170;21444796;21875946;21877119;23066150;23687088;24242703;24275655;25001651 374383 Q68D85 ABBA01061065;AC124798;AMYH02024382;AMYH02024383;BC136797;BC136800;BX537685;CR749521;KC877395;NM_001202439;XR_242803 CAD97811;CAH18335;NP_001189368;Q68D85 Hs.146274 1669329;1769451;2117208 A002Y11;D11S2265E;SHGC-53115 B7-H6;B7H6;DKFZp686I21167;DKFZp686O24166 B7 homolog 6;OTTHUMP00000231507;OTTHUMP00000231508;natural cytotoxicity triggering receptor 3 ligand 1;putative Ig-like domain-containing protein DKFZp686O24166/DKFZp686I21167 APPROVED protein-coding ENSG00000188211 HGNC:42400 16820 613714 VALIDATED 1353948 NCR3 natural cytotoxicity triggering receptor 3 The protein encoded by this gene is a natural cytotoxicity receptor (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell receptor. A single nucleotide polymorphism in the 5' untranslated region of this gene has been associated with mild malaria suceptibility. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] 6 6 6 p21.3 33154875 33158977 - 31556660 31560762 - 31588883 31592994 - 1580863;6480464;7240710;8554872 10202016;10562324;10941844;11782277;11895890;12477932;12486241;12731048;14574404;14635045;14656967;15489334;15657183;15728472;15784725;15972650;16272287;16304049;16362817;16690951;17207965;17208487;17436233;18023431;18055229;18092004;18157817;18275895;18713971;18802053;18852879;19079260;19143814;19528259;19551844;19580844;19851445;19913121;20587610;20628086;20663564;20712903;20812318;21422170;21444796;21552268;21946350;22044312;22221078;22360401;22807449;22851709;23028341;23059620;23066150;23284291;23345327;23360454;23456936;23490421;23687088;23884468;24133212;24139398;24275655;25001651;7590964;8824804 259197 O14931;Q05D23 AB055881;ABBA01038081;AF031136;AF031137;AF031138;AF129756;AJ223153;AL662801;AL662847;AL929587;AMYH02013452;BA000025;BC018752;BC052582;BG744854;BX248519;BX927320;CH471081;CR753892;CR759886;CR759905;CR942185;NG_021176;NM_001145466;NM_001145467;NM_147130;XM_006715049;XM_006725031;XM_006725478;XM_006725692;XM_006725808;XM_006725902;XM_006725903;XM_006725989;XM_006726081;Y14768 AAB86578;AAB86579;AAB86580;AAD18088;AAH18752;AAH52582;ADQ32103;BAB63393;BAB78472;CAA75063;CAA75064;CAA75065;CAA75066;CAA75067;CAA75068;CAB54004;EAX03439;EAX03440;EAX03441;NP_001138938;NP_001138939;NP_667341;O14931;XP_006715112;XP_006725094;XP_006725541;XP_006725755;XP_006725871;XP_006725965;XP_006725966;XP_006726052;XP_006726144 Hs.509513 1679712;1684760;2106187;2110493;2148169;2168186 D6S2788;LST1_7911;RH76281;RH98851;SHGC-63639;STS-U00921 1C7;CD337;LY117;MALS;NK-p30;NKp30 OTTHUMP00000029162;OTTHUMP00000029163;OTTHUMP00000029164;OTTHUMP00000029165;activating NK-A1 receptor;activating natural killer receptor p30;lymphocyte antigen 117;natural killer cell p30-related protein APPROVED protein-coding ENSG00000204475 HGNC:19077 11384 609148;611550 REVIEWED 5491158 NCOR1P2 nuclear receptor corepressor 1 pseudogene 2 17 17 p11.2 21535947 21544604 + 22061960 22070605 - 729490 ABBA01006766;AC138710;AC144838;NG_006551 1299902 D17S953 pseudo HGNC:42997 INFERRED 1350089 NCRNA00098 non-protein coding RNA 98 q22.3 10830953 54091 AW138631 Hs.565736 C21orf20 miscrna HGNC:1261 1625845 NCRNA00104 non-protein coding RNA 104 p22.33 and Yp11.31 100048902 AL683807 CXYorf6 protein-coding HGNC:31841 1351656 NCRNA00185 non-protein coding RNA 185 Y Y Y q11.222 6734972 6740699 + 21034387 21040114 - 18872501 18878228 - 6480464 12815422 55410 ABBA01073690;AC009235;AF119903;CH471202;NR_001544 AAF69657;EAW54674;EAW54675 Hs.138453 CYorf14;PRO2834 APPROVED ncrna ENSG00000176728 HGNC:18566 VALIDATED 2300138 NCRNA00249 non-protein coding RNA 249 q21.11 552852 AA861243;AC022868;DB514724 Hs.521636;Hs.642517 C8orf23 APPROVED miscrna 1344181 NCOA3 nuclear receptor coactivator 3 The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010] 20 20 20 q12 42844227 42999274 + 46130601 46285621 + 47501857 47656877 + 1580863;1642050;2326123;5128512;5144138;5130718;5147892;5688283;2289908;5688351;6480464;6484676;6484113;8554872 11306337;12725419;14557830;16394250;16822624;17163421;19471584;19818358;20051871;20166126 10224118;10490106;10504300;10551785;10598588;10652338;10655477;10681591;10757795;10866661;10965917;11027271;11050077;11050174;11056690;11076796;11087842;11092404;11094166;11117530;11161840;11163245;11250900;11266503;11279242;11316771;11353774;11376110;11389589;11477071;11500849;11668176;11704662;11708882;11747336;11780052;11823864;11851396;11927493;11929748;11971985;12082103;12089344;12145209;12477932;12497632;12554772;12602902;12630920;12650696;12665583;12714702;12833450;12893883;12917342;14503806;14578343;14611647;14645221;14648706;14684685;14691461;14747462;14766010;14966121;15145444;15145939;15169882;15174051;15184363;15289619;15302935;15383283;15448000;15548698;15550471;15563469;15572661;15604093;15677324;15698540;15723037;15788656;15788663;15808510;15863722;15900600;15919092;15937332;15987430;16051665;16135815;16219912;16227615;16244359;16263829;16298470;16344560;16365010;16434590;16439211;16456540;16458427;16648476;16670003;16728408;16751102;16760465;16860316;16916939;16921507;16923966;16940181;16951183;16957778;16964243;17008696;17043108;17082781;17098861;17158759;17223341;17360478;17441340;17475621;17476305;17532621;17574025;17636398;17646391;17805331;17927986;17968310;17998543;18003620;18029348;18160712;18162290;18246597;18267973;18313384;18385039;18426732;18484708;18511550;18521745;18593948;18593949;18636124;18644862;18645020;18660489;18676680;18765637;18798693;18827493;18845648;18922467;19052561;19064572;19095746;19102007;19144644;19170196;19176441;19183483;19198856;19255064;19277704;19285025;19322201;19357364;19433130;19453261;19460752;19470168;19491275;19552757;19625176;19628566;19652917;19692168;19716257;19884766;19913121;20003447;20064830;20086010;20124470;20137343;20155818;20159552;20180986;20181721;20305690;20332317;20368990;20381444;20392877;20422428;20554694;20628086;20663904;20733005;20852035;20890303;20956942;21047772;21059860;21182203;21184786;21220509;21454665;21577200;21601620;21636853;21735116;21871888;21914189;22002538;22035181;22052107;22142990;22147914;22163316;22213475;22283414;22307791;22342158;22370642;22371647;22430150;22505454;22550166;22560224;22627138;22759465;23230135;23322234;23433587;23483928;23511556;23514585;23559371;23606350;23650284;23652306;23660594;23670096;23762395;23774759;23851504;23886194;23989986;24134957;24282087;24304549;24390736;24584933;24585635;24722188;24740565;7791754;8616895;8758910;8889548;9192892;9225980;9238002;9252329;9267036;9346901;9445475;9489701;9727751;9765300;9812974;9832502 8202 Q0IIN7;Q59EE8;Q9Y6Q9 AB209863;ABBA01052704;ABBA01052705;ABBA01052706;ABBA01052707;ABBA01052708;ABBA01052709;AF010227;AF012108;AF016031;AF036892;AK289683;AK296810;AK302588;AK302595;AK308346;AL021394;AL034418;AL353777;AMYH02037170;AMYH02037171;AMYH02037172;AMYH02037173;AMYH02037174;AMYH02037175;AMYH02037176;AMYH02037177;AMYH02037178;AMYH02037179;BC092516;BC119001;BC122547;BM692321;BU588121;CA450268;CH471077;DB091786;EF488684;NG_016810;NM_001174087;NM_001174088;NM_006534;NM_181659 AAB92368;AAC51663;AAC51677;AAC51849;AAH92516;AAI19002;AAI22548;ABO43042;BAD93100;BAF82372;BAG59383;BAG63841;BAG63847;EAW75696;EAW75697;EAW75698;EAW75699;EAW75700;EAW75701;EAW75702;NP_001167558;NP_001167559;NP_006525;NP_858045;Q9Y6Q9 Hs.592142 1340421;1645344;1652171;1659498;1668660;1674620;1693732;1772848;1788648;1791524;1796394;2118443;2123305;2131934;2145280;2155551;2178094;5118083;7185018 AL031468;D20S1123;D20S197;D20S542E;D20S951;G01531;G64267;NCOA3_1532;PMC113761P3;RH12403;RH18152;RH48397;SHGC-58803;STS-H52110;WI-21757;Z94341;Z94499;Z94538 ACTR;AIB-1;AIB1;CAGH16;CTG26;KAT13B;MGC141848;RAC3;SRC-3;SRC3;TNRC14;TNRC16;TRAM-1;bHLHe42;pCIP CBP-interacting protein;OTTHUMP00000031716;OTTHUMP00000031717;OTTHUMP00000031718;amplified in breast cancer 1 protein;class E basic helix-loop-helix protein 42;receptor-associated coactivator 3;steroid receptor coactivator protein 3;thyroid hormone receptor activator molecule 1 APPROVED protein-coding ENSG00000124151 HGNC:7670 03570 601937 REVIEWED 2300137 NCRNA00250 non-protein coding RNA 250 q24.22 16344560 552853 AC083843;DA569006;DB355589;NR_126028 Hs.575612 C8orf24 APPROVED ncrna VALIDATED 3277424 NCRNA00270 non-protein coding RNA 270 Y Y q11.23 9316025 9316247 - 28390498 28390720 - 9847074 100286930 AC024067 miscrna HGNC:38001 3102874 NCRNA00270B non-protein coding RNA 270B Y q11.223 25572194 25572416 + 100287666 AC006983 pseudo HGNC:38533 1342633 NCR2 natural cytotoxicity triggering receptor 2 ENCODES a protein that exhibits transmembrane signaling receptor activity (inferred); INVOLVED IN cellular defense response (inferred); innate immune response (inferred); signal transduction (inferred); FOUND IN integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; mycophenolic acid; progesterone 6 6 6 p21.1 42856966 42872064 + 41303528 41318625 + 41335790 41350887 + 6480464 10049942;12351833;12645956;12653925;12731048;12791260;14574404;14707061;15657183;15728472;15941912;16210654;17536787;17567994;18023431;18077718;18092004;19635919;20237496;20638936;21116278;21151495;22021614;22044312;22674989;23345327;23459936;23527218;23562540;23578092;23791642;23818644;23958951;24044960;24352038;24673109 9436 O95944 ABBA01050760;AJ010099;AJ010100;AL136967;AMYH02013603;CH471081;NM_001199509;NM_001199510;NM_004828 AAI66647;CAB52289;CAB52290;EAX04039;EAX04040;EAX04041;EAX04042;NP_001186438;NP_001186439;NP_004819;O95944 Hs.194721 1805764;1809006;1809998;1810094;1810744;1810746;1831312;1831802;1840428;1843952;1845832;1976236;1976238;1976240;1976242;1976244;1976246;1976248;1976250;1976252;1976254;1976256;1976258;1976260;1976262;1976264;1976266;1976268;1976270;1976272;1976274;1976276;1976278;1976280;1976282;1976284;1976286;1976288;1976290;1976292;1976294;1976296;1976298;1976300;1976302;1976304;1976306;1976308;1976310;1976312;1976314;1976316;1976318;1976320;1976322;1976324;1976326;1976328;1976330;1976332;1976334;1976336;1976338;1976340;1976342;1976344;1976346;1976348;1976350;1976352;1976354;1976356;1976358;1976360;1976362;1976364;1976366;1976368;1976370;1976372;1976374;1976376;1976378;1976380;1976382;1976384;2215712;2215714;2215716;2215718;2215720;2215722;2215724;2215726 ECD03833;ECD05486;ECD05991;ECD06039;ECD06367;ECD06368;ECD16792;ECD17038;ECD21400;ECD23188;ECD24135;REN59006;REN59007;REN59008;REN59009;REN59010;REN59011;REN59012;REN59013;REN59014;REN59015;REN59016;REN59017;REN59018;REN59019;REN59020;REN59021;REN59022;REN59023;REN59024;REN59025;REN59026;REN59027;REN59028;REN59029;REN59030;REN59031;REN59032;REN59033;REN59034;REN59035;REN59036;REN59037;REN59038;REN59039;REN59040;REN59041;REN59042;REN59043;REN59044;REN59045;REN59046;REN59047;REN59048;REN59049;REN59050;REN59051;REN59052;REN59053;REN59054;REN59055;REN59056;REN59057;REN59058;REN59059;REN59060;REN59061;REN59062;REN59063;REN59064;REN59065;REN59066;REN59067;REN59068;REN59069;REN59070;REN59071;REN59072;REN59073;REN59074;REN59075;REN59076;REN59077;REN59078;REN59079;REN59080;stSG634670;stSG634671;stSG634672;stSG634673;stSG634674;stSG634675;stSG634676;stSG634677 CD336;LY95;NK-p44;NKP44;dJ149M18.1 NK cell activating receptor (NKp44);NK cell-activating receptor;OTTHUMP00000016371;OTTHUMP00000016372;OTTHUMP00000016373;lymphocyte antigen 95 (activating NK-receptor, NK-p44);lymphocyte antigen 95 (activating NK-receptor; NK-p44);lymphocyte antigen 95 homolog (activating NK-receptor, NK-p44);lymphocyte antigen 95 homolog (activating NK-receptor; NK-p44);natural killer cell p44-related protein protein-coding ENSG00000096264 HGNC:6732 05168 604531 VALIDATED 2837563 NCRNA00273B non-protein coding RNA 273B Y Y p11.2 3369361 3372630 - 10031539 10034808 - 100131228 AADB02037580;ABBA01031175;ABBA01031176;AC010970 pseudo HGNC:38548 1345600 NCRNA00291 non-protein coding RNA 291 14 14 q21.1 17929521 18176147 + 38170556 38264576 + 100499441 AL121790;AL136296;AL163151;BF063203;XR_159028;XR_159236 Hs.659936;Hs.735166 1679740 RH98459 C14orf25 chromosome 14 open reading frame 25 APPROVED miscrna HGNC:19830 MODEL 1321111 NCOR2 nuclear receptor corepressor 2 This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011] 12 12 12 q24 124408964 124651550 - 124808957 125052079 - 124324411 124567464 - 1625347;1580863;2314971;2298984;2306463;2326123;5128512;5130718;5147413;6480464;6484113;6484676;6907045;7421504;8693397;8554872 11850121;14751175;15334463;16394250;16822624;17163421;19471584;19904269;20801081;21784126;23759327 10049357;10077563;10082574;10097068;10395741;10406466;10611298;10640275;10640276;10644367;10713164;10757795;10777532;10809664;10860984;10869435;10898795;10944117;11013263;11113190;11134019;11158331;11259580;11331609;11404076;11430826;11435691;11466315;11509652;11509665;11518802;11559707;11585900;11726519;11739383;11804585;11845213;11865059;11867749;11923464;11929748;11929749;11931768;11959865;11972046;11997503;12007404;12011091;12072427;12107410;12139968;12205093;12242670;12388540;12441355;12460926;12477932;12502735;12554770;12589049;12628926;12665583;12738788;12771131;12840002;12904255;12970571;14527417;14593076;14690607;14715875;14982881;14985122;15016838;15016912;15062576;15146197;15175761;15231748;15300237;15302935;15319284;15454082;15494311;15531890;15536134;15604093;15632172;15635693;15681609;15713534;15729358;15802375;15832170;15837933;15843525;15870285;15878880;16002533;16024608;16030140;16033423;16042694;16121196;16129689;16144941;16147992;16219912;16373395;16382138;16453284;16480812;16481466;16613989;16712523;16893456;16924111;16956611;17000644;17043677;17073437;17081983;17126328;17242407;17347654;17356171;17383980;17475621;17560331;17902051;17991421;18029348;18052923;18187620;18212045;18347093;18362166;18487509;18546531;18632669;18660489;18838553;18852122;18950845;19098224;19144721;19183483;19211732;19223455;19244234;19417136;19432593;19471022;19596686;19617623;19730683;19734545;19851296;19934400;19946888;19955185;20003447;20195357;20198315;20364085;20392877;20555024;20812024;20935208;20965228;21081666;21083371;21088000;21131350;21139048;21143702;21240272;21258344;21282530;21518914;21532573;21624135;21693764;22185585;22230954;22292036;22294699;22337871;22508987;22576662;22695118;22944139;23015261;23055525;23117886;23221346;23225884;23443559;23562850;23648065;23690919;23752268;23861398;23911289;23958962;24268649;24449765;24816145;24821727;24943844;7566114;7566127;8813722;8889548;9171229;9225980;9256429;9267036;9380707;9405624;9415406;9486654;9702189;9751500;9765306;9819405;9878542 9612 C9J0Q5;C9J330;C9J7T7;C9JE98;C9JFD3;C9JNV9;C9JQE8;H0YGK8;H7BZU2;H7C0P3;H7C184;H7C1J7;H7C1Y3;H7C2R5;Q9Y618 AB209089;ABBA01060378;ABBA01060379;ABBA01060380;AC069261;AC073592;AC073916;AF113003;AF125672;AK127788;AMYH02027469;AMYH02027470;AMYH02027471;AMYH02027472;AMYH02027473;AMYH02027474;AY965853;BC004326;BC020427;BM687540;BU172348;BX390462;CA396349;CH471054;CN423531;CX873148;L32841;NG_022928;NM_001077261;NM_001206654;NM_006312;S83390;U80750;X79269 AAB50847;AAB91446;AAD20946;AAD22973;AAH04326;AAX77219;BAD92326;EAW98448;EAW98449;EAW98450;EAW98451;EAW98452;EAW98453;NP_001070729;NP_001193583;NP_006303;Q9Y618 Hs.137510 1337759;1342274;1662586;1670693;1674349;1677642;1678387;1684586;1684588;1705958;1706318;1716199;1761681;1763159;1764007;1764533;1765683;1766619;1772511;1789000;2109547;2136943;2181366;2186169;5022576 AF021128;D12S1611;D12S1612;D1S1361;G16002;G27367;G65579;NCOR2_7954;RH121123;RH45082;RH78821;RH79644;RH79918;RH80134;RH80812;SHGC-145659;SHGC-146890;SHGC-147666;SHGC-148126;SHGC-149122;SHGC-149920;SHGC-79687;SHGC-80723;STS-AA007694;STS-D60472 CTG26;FLJ25011;N-CoR2;SMAP270;SMRT;SMRTE;SMRTE-tau;TNRC14;TRAC;TRAC-1;TRAC1 CTG repeat protein 26;OTTHUMP00000197398;OTTHUMP00000197399;OTTHUMP00000197400;OTTHUMP00000197402;T3 receptor-associating factor;silencing mediator for retinoid and thyroid hormone receptors;silencing mediator of retinoic acid and thyroid hormone receptor;thyroid-, retinoic-acid-receptor-associated corepressor APPROVED protein-coding ENSG00000196498 HGNC:7673 02910 600848 REVIEWED 6481592 NCSTNP1 nicastrin pseudogene 1 21 21 28864437 28864580 + 27492118 27492261 + 100873743 ABBA01057231;AMYH02037670;AP001605;NG_032328 pseudo HGNC:39606 INFERRED 1349540 ND1 mitochondrially encoded NADH dehydrogenase 1 INVOLVED IN cellular metabolic process (inferred); respiratory electron transport chain (inferred); small molecule metabolic process (inferred); ASSOCIATED WITH Alzheimer Disease; Arthritis, Rheumatoid; Bipolar Disorder; FOUND IN mitochondrial membrane; mitochondrial respiratory chain complex I; INTERACTS WITH aflatoxin B1; atrazine; chloramphenicol MT MT 3307 4262 + 3307 4262 + 2311592;2300401;2300410;2300400;2311583;2311597;5490247;5490230;5508187;5490261;5490287;5148009;5508689;5508709;5508685;5508712;5508706;5490206;5490236;5490286;5148017;5490251;5490235;5490252;5490238;5148018;6480464;8554872;8657118;8699517;8657117;8657116 10581412;11022854;11479733;11506395;12112111;14563825;15075441;15265369;15466014;15533721;15987486;16060290;16397907;1674640;16784756;17454741;17684475;18194667;18566918;18679013;18807169;19324017;19487983;2018041;20301352;20454697;22577081;8976705;9309689 11418099;12100083;12111463;12133550;12618962;12670626;12756609;14580860;14671420;14680844;14759509;15038995;15108120;15110773;15505787;15696471;15860916;15952130;15975594;16137960;16335786;16414144;16604388;16759180;16828917;16884381;17035175;17045122;17200023;17429906;17434142;17562939;17619138;17717444;18082471;18239645;18486613;18502698;18504678;18513491;18590963;18701018;18709563;19050702;19066432;19199242;19199265;19276764;19527690;19555656;19758471;19822128;20137661;20176558;20197120;20211276;20301403;20301411;20643099;21139048;21329181;21625124;21852384;21988832;22079202;22241583;22517755;22653752;22990118;23464625;23530560;23834081;24002810;24105702;6402020 4535 P03886;Q85L02;U5Z754 J01415 AAB58943;YP_003024026 1735226;1736630;1794558;2164672 D17S1473E;D3S2893E;NIB250;PMC31832P1 MTND1 NADH dehydrogenase subunit 1;NADH dehydrogenase, subunit 1 (complex I) APPROVED protein-coding HGNC:7455 516000 PROVISIONAL 2312709 NCRUPAR non-protein coding RNA, upstream of F2R/PAR1 This non-coding RNA gene has been reported to have a positive regulatory affect during embryogenesis on the adjacent coagulation factor II (thrombin) receptor gene by Madamanchi et. al (PMID:12084570). [provided by RefSeq, Aug 2012] 5 5 5 q13.3 71901709 71902630 + 76008228 76008713 + 76712403 76712888 + 12084570 100302746 ABBA01061965;AC025188;AMYH02011610;NG_032906;NR_028375 NCRNA00193;ncR-uPAR APPROVED ncrna HGNC:37153 REVIEWED 4142551 NCRNA00286A non-protein coding RNA 286A INTERACTS WITH valproic acid 16 16 p13.3 155400942 155403150 - 72836 74809 + 6480464 11157797 100132169 Q96S36 AE006462;BC032901;CR605219;XR_109291;XR_115615 AAK61209;Q96S36 miscrna HGNC:38609 MODEL 730890 NCOR1 nuclear receptor corepressor 1 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] 17 17 17 p11.2 15836413 16021797 - 15933408 16118874 - 16030094 16215560 - 1580863;2326123;2306463;5128512;5130718;5147413;5688338;6480464;5688285;6484113;6484676;7421504;8554872 10441327;11850121;16394250;16822624;17163421;19471584;20801081;21784126;22349439 10049357;10077563;10336495;10406466;10441075;10444336;10470851;10573424;10640275;10675041;10734313;10809664;10860984;10877839;10882117;10898795;10940306;10944117;11001911;11013263;11113190;11124027;11331609;11430826;11439334;11441023;11463857;11466315;11486045;11509652;11533236;11748154;11804585;11865059;11867749;11877444;11889044;11903058;11931768;11971970;11997503;12007404;12011091;12077342;12089344;12089345;12145334;12149646;12150997;12410313;12460926;12466959;12477932;12569182;12590135;12628926;12634383;12648520;12663743;12738788;12764135;12799135;12840002;12861000;12890497;12897056;12904255;14525983;14527417;14593076;14667819;14701861;14702098;14722073;14761981;14985122;14985366;15001550;15016838;15109542;15116119;15131262;15175761;15231748;15256534;15302935;15333839;15336696;15377655;15454082;15531890;15536134;15561719;15572376;15598662;15601853;15604093;15681609;15695367;15729358;15761026;15788656;15802375;15829968;15832170;15870285;15878880;15934135;16024608;16024779;16030140;16033423;16121196;16127449;16141343;16147992;16195251;16216492;16227606;16252006;16373395;16421255;16464943;16469706;16712523;16713569;16730330;16849648;16914745;16917504;16964243;17018285;17073437;17079677;17081983;17182846;17210713;17242407;17255935;17373667;17400812;17416745;17440114;17468099;17468742;17505061;17519354;17572682;17620012;17630505;17768398;18052923;18202150;18206970;18292238;18326024;18362166;18586123;18632669;18637017;18660489;18669643;18829436;18832723;18852122;18978041;19011633;19032343;19048289;19064572;19098224;19126649;19147702;19183483;19211732;19244234;19414341;19471022;19608741;19781322;19913121;19946888;19955185;20003447;20181716;20466759;20581824;20587609;20628086;20812024;20935208;20974212;21081666;21088000;21131350;21139048;21143702;21258344;21331046;21389087;21518914;21525722;21527249;21532573;21693764;21890473;21963094;21966475;21987803;21988832;22078880;22190034;22294699;22337871;22514634;22622808;22651256;22675025;22939629;22944139;23129261;23295231;23428870;23518348;23667531;23752268;23940660;24051437;24157709;24315104;24335696;24821727;24840043;7566114;8948627;9111334;9121466;9328355;9405624;9482666;9486655;9531570;9611234;9694793;9702189;9724795;9751061;9804773;9819405;9849963;9878542 9611 B4DJ25;C9JAP0;E7EVK1;E7EVU5;E7EW50;H0Y459;J3KRE4;J3KS29;J3KS51;J3KT44;J3QKP0;O75376;Q6PGR4;S4R380 AB028450;AB028451;AB028970;ABBA01035661;ABBA01035662;ABBA01035663;ABBA01035664;ABBA01035665;AC002553;AC005971;AF044209;AF087856;AF303584;AF303585;AF303586;AK295893;AK302746;AK307614;AK310405;AL137641;AMYH02033064;AMYH02033065;AMYH02033066;AMYH02033067;AMYH02033068;AMYH02033069;AW015698;BC026028;BC035748;BC050594;BC056862;BC058511;BC068996;BC107772;BC142648;BC167431;BJ995810;CH471222;NM_001190438;NM_001190440;NM_006311;XM_005256866;XM_005256867;XM_005256868;XM_005256871;XM_005256872;XM_005256873;XM_005256874;XM_005256875;XM_006721601;XM_006721602;XM_006721603;XM_006721604;XM_006721605 AAC33550;AAH26028;AAH50594;AAH56862;AAH58511;AAH68996;AAI07773;AAI42649;AAI67431;AAI72437;AAO32940;AAO32941;AAO32942;AAP97166;BAA82999;BAA83818;BAA83819;BAG58687;BAG63960;CAB70854;EAX04492;EAX04493;EAX04494;EAX04495;EAX04496;NP_001177367;NP_001177369;NP_006302;O75376;XP_005256923;XP_005256924;XP_005256925;XP_005256928;XP_005256929;XP_005256930;XP_005256931;XP_005256932;XP_006721664;XP_006721665;XP_006721666;XP_006721667;XP_006721668 Hs.462323 1340339;1648502;1674952;1678061;1691000;1698710;1707152;1734440;1783520;2157021;2179515 D17S1410E;D17S1674;D17S1843;RH102915;RH18301;RH47121;RH81063;RH91243;SHGC-150171;SHGC-31118;SHGC-81346 KIAA1047;MGC104216;N-CoR;N-CoR1;PPP1R109;TRAC1;hCIT529I10;hN-CoR OTTHUMP00000065575;OTTHUMP00000065577;OTTHUMP00000065578;OTTHUMP00000065580;nuclear receptor co-repressor 1;thyroid hormone- and retinoic acid receptor-associated corepressor 1 APPROVED protein-coding ENSG00000141027 HGNC:7672 02911 600849 REVIEWED 1346946 ND4L mitochondrially encoded NADH 4L dehydrogenase INVOLVED IN cellular metabolic process (inferred); respiratory electron transport chain (inferred); small molecule metabolic process (inferred); ASSOCIATED WITH Diabetes Mellitus; Optic Atrophy, Hereditary, Leber; FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH atrazine; thapsigargin; tunicamycin MT MT 10470 10766 + 10470 10766 + 5686343;5686341;5686339;8554872 11935318;19394449;7603516 17123117;19050702;19758471;20301353;20301403;21988832 4539 P03901;Q7GXZ4 J01415 AAB58951;YP_003024034 1794772;5023545;5094682 PMC55343P6;PMC55343P7;PMC55343P8 MTND4L NADH dehydrogenase subunit 4L;NADH dehydrogenase, subunit 4L (complex I);mitochondrially encoded nadh dehydrogenase 4l APPROVED protein-coding HGNC:7460 516004 PROVISIONAL 68618 NCS1 neuronal calcium sensor 1 This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34 103585939 103651680 + 132934857 132999583 + 130172578 130237304 + 6480464;7204681 20668007 11092894;11115393;11526106;11606724;11825672;11836243;12006624;12244129;12351722;12477932;12496348;12783849;12928444;14512421;14607934;14702039;14726528;14760944;15164053;15489334;16189514;16344560;16402081;16837555;17672918;18029348;19091302;19322201;20468064;20479890;21139048;21737792;21777187;21808066;21875085;21890473;22227393;22863883;22999924;23000965;23535033;24012477;24934288;7488079;8889548 23413 P62166 ABBA01043967;ABBA01043968;ABBA01043969;ABBA01043970;ABBA01043971;AF134479;AF186409;AI521726;AI564128;AI768193;AK023889;AK024709;AL161981;AL360004;AMYH02021758;AMYH02021759;BC004856;BC008698;BM011362;BQ880305;BU150740;CF453730;CH471090;CK301145;DA092531;NM_001128826;NM_014286;X84048 AAF01804;AAH04856;AAP97256;CAA58867;EAW87926;EAW87927;NP_001122298;NP_055101;P62166 Hs.642946;Hs.714951 1667159;1678207;1784392;1857322 2006;A001U14;RH93523;SHGC-154599 DKFZp761L1223;FLUP;FREQ;NCS-1 OTTHUMP00000022356;frequenin homolog;frequenin-like protein;frequenin-like ubiquitous protein APPROVED protein-coding ENSG00000107130 HGNC:3953 04500 603315 REVIEWED 1351739 NCSTN nicastrin This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014] 1 1 1 q22-q23 133381822 133397500 + 160313063 160328742 + 160343273 160358952 + 1358751;1580863;2302204;6480464;6484113;6907045;7240710;8554872;8699517 15322084;17761886 10993067;11295540;11396676;11483961;11726200;11943765;11992262;12021275;12032140;12044882;12048259;12054507;12130643;12198112;12297508;12419494;12471034;12477932;12603837;12643545;12644462;12660785;12679784;12692078;12736250;12740439;12754519;12763021;12787561;12815056;12821663;12843241;12857757;12917438;14572442;14593096;14602727;14642438;14664923;15146197;15157994;15189355;15210705;15249634;15257293;15274632;15322109;15474363;15489334;15567563;15591316;15711015;15721744;15975090;16303145;16423463;16630834;16641999;16938437;17081065;17192785;17897319;17986144;18201567;18667537;19028695;19056867;19077115;19105203;19187441;19322201;19394408;19684016;19729449;19840113;19946888;20224929;20880607;20929727;21123562;21364883;21412258;21430701;21495993;21674799;21725355;21848507;21906983;21963094;21987572;22086926;22268729;22358060;22404891;22405046;22586122;22590650;22622421;22759192;22771797;22779921;22787765;22834455;22939629;23012411;23096707;23517242;23585889;23595812;24270855;24816145;9039502 23385 B4DR82;H0Y3Z4;H0Y6T7;Q5T205;Q5T209;Q5T210;Q5T211;Q92542 ABBA01016612;AF240468;AK296153;AK299142;AK310741;AK314764;AL445230;AMYH02002024;AY359120;BC047621;BC100024;CH471121;CN429672;D87442;NG_027935;NM_001290184;NM_001290186;NM_015331;XM_005245053 AAG11412;AAH47621;AAQ89478;ADZ15586;BAA13383;BAG37302;BAG58892;BAG61194;EAW52720;EAW52721;EAW52722;NP_001277113;NP_001277115;NP_056146;Q92542;XP_005245110 Hs.517249 1857753;2121325;2137080 RH11634;RH36199;RH71333 APH2;KIAA0253;RP11-517F10.1 ATAG1874;OTTHUMP00000031839;OTTHUMP00000031840;anterior pharynx-defective 2 APPROVED protein-coding ENSG00000162736 HGNC:17091 05584 142690;605254 REVIEWED 1347448 ND5 mitochondrially encoded NADH dehydrogenase 5 INVOLVED IN cellular metabolic process (inferred); respiratory electron transport chain (inferred); small molecule metabolic process (inferred); ASSOCIATED WITH Leigh Disease; MELAS Syndrome; Optic Atrophy, Hereditary, Leber; FOUND IN mitochondrial respiratory chain complex I; INTERACTS WITH atrazine; copper(2+) sulfate; thapsigargin MT MT 12337 14148 + 12337 14148 + 1581060;2302316;5507826;5491184;5507825;5491171;5491173;5491202;5491183;5491185;5491172;5491186;6480464;8554872;8699517 10589546;16240359;16816025;1732158;17535832;18495510;18587274;19022198;21131053;21482521;21850008;2507335 12031626;12772452;14520659;14557590;14639589;14730434;14759509;15596151;15931342;15946665;15975594;16331560;17106447;17317336;17341490;17400793;17614984;17702497;17898419;17940288;18270557;18332249;18396045;18546119;18709563;19026397;19050702;19054921;19617458;19758471;20301353;20301403;20301411;20643099;20936779;21154318;21830212;22262461;22759514;22947169;22990118;24440288 4540 E7CM12;P03915;U5ZC31 J01415 AAB58953;YP_003024036 MTND5 NADH dehydrogenase subunit 5;NADH dehydrogenase, subunit 5 (complex I) APPROVED protein-coding HGNC:7461 516005 PROVISIONAL 1344993 ND4 mitochondrially encoded NADH dehydrogenase 4 INVOLVED IN cellular metabolic process (inferred); respiratory electron transport chain (inferred); small molecule metabolic process (inferred); ASSOCIATED WITH Alzheimer Disease; Macular Degeneration; Optic Atrophy, Hereditary, Leber; FOUND IN mitochondrial respiratory chain complex I; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; alpha-D-galactose; arsane MT MT 10760 12137 + 10760 12137 + 1581057;1581058;1581059;5507829;5508187;5508711;5508704;5508705;5507832;5508713;5491183;6480464;8554872 10447460;10737123;12436196;14623372;16364244;16538224;18771762;19022198;19434233;20454697;3201231 11843871;14667819;14671420;15696471;15840367;15952130;15975594;16137960;16604388;17045122;17069814;17160945;17300996;17382898;17509949;17517394;17723226;18513491;18816836;19050702;19167085;19199242;19247386;19394449;19758471;20625049;20627642;20728388;20809775;20837795;20936779;21398275;21742061;21826063;21850008;22523243;22990118;24440288 4538 H9EC08;P03905 J01415 AAB58952;YP_003024035 1794772;5023545;5094682 PMC55343P6;PMC55343P7;PMC55343P8 MTND4 NADH dehydrogenase subunit 4;NADH dehydrogenase, subunit 4 (complex I) APPROVED protein-coding HGNC:7459 516003 PROVISIONAL 1350157 ND2 mitochondrially encoded NADH dehydrogenase 2 INVOLVED IN cellular metabolic process (inferred); reactive oxygen species metabolic process (inferred); respiratory electron transport chain (inferred); ASSOCIATED WITH Hypotension, Orthostatic; Multiple Sclerosis; Myocardial Infarction; FOUND IN mitochondrial respiratory chain complex I; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; atrazine; copper(2+) sulfate MT MT 4470 5511 + 4470 5511 + 1581054;1581055;1581056;2302313;2302294;5507832;5507833;5490259;5507834;5508187;6480464;8554872;8699517 10449650;10737123;1352971;1370613;15254717;15262184;16266403;18708297;20454697;8723226 11573146;11735027;12039661;12086702;12111463;12520145;12782420;14604458;14688809;15068427;15069201;15211636;15680405;15680495;15888325;15931342;15975594;16271520;16520888;16763358;16784756;16897192;16996290;17277043;17510502;17541740;17636359;17684475;17717444;18031868;18082471;18197537;18461138;18514404;18546119;18679013;18684894;19050702;19077432;19667492;19758471;20301353;20301403;21139048;21702983;22262461;22351520;22505229;24612979 4536 P03891;Q7GXY9 J01415 AAB58944;YP_003024027 1736630;1791530;1794558;1794762;2164672 D17S1473E;NIB250;PMC113853P1;PMC31832P1;PMC55343P1 MTND2 NADH dehydrogenase subunit 2 APPROVED protein-coding HGNC:7456 516001 PROVISIONAL 1352165 NDEL1 nudE neurodevelopment protein 1-like 1 This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012] 17 17 17 p13.1 8370018 8402309 + 8316447 8371495 + 8413129 8468177 + 1580863;6480464 10737800;11163258;11163259;11163260;12477932;12506198;12556484;12621583;12796778;12812986;12885786;14702039;14962739;14970193;15342556;15489334;15572112;15728732;16005531;16189514;16203747;16291865;16344560;16682949;17035248;17043677;17060449;17207965;17494871;17600710;17997972;18347064;18400883;18421979;18469341;18784752;18845247;19198602;19251251;19492042;19622634;19632097;19927128;20048338;20084519;20168084;20360068;20462516;20880836;20936779;21036906;21092859;21139048;21832049;21948775;21998303;22373868;22430153;22453242;22832604;22843697;23388542;24250222;24722188;8619474;9110174 81565 A6NIZ0;J3KRK9;J3KSF2;J3KT16;J3QL31;J3QL85;J3QLD0;J3QRD2;J3QRZ1;J3QSD2;Q9GZM8 AA232258;AA425741;ABBA01054917;AC026130;AF038203;AF182078;AF217798;AI742227;AK056014;AK095179;AK123802;AK128514;AK299559;AL832648;AMYH02032923;AW795298;AX405713;AY004871;BC026101;BP201698;CH471108;CX166766;DA256375;DB176966;DN993952;NG_029963;NM_001025579;NM_030808;R94775;XM_005256806;XM_006721580;XM_006721581 AAF24516;AAF97497;AAG43425;AAH26101;ADQ32342;BAG51605;BAG61503;CAD34820;CAD89957;EAW90051;EAW90052;NP_001020750;NP_110435;Q9GZM8;XP_005256863;XP_006721643;XP_006721644 Hs.372123;Hs.740680 1660978;1734508;2109549;2117922;2167501 D17S1452E;NDEL1_8103;RH45856;SHGC-53475;STS-N53016 DKFZp451M0318;EOPA;MITAP1;NDE1L1;NDE2 NUDE-like protein;NUDEL;OTTHUMP00000135335;endooligopeptidase A;mitosin-associated protein 1;mitosin-associated protein MITAP1;nuclear distribution protein nudE-like 1;nudE nuclear distribution E homolog-like 1;nudE nuclear distribution gene E homolog (A. nidulans)-like 1;nudE nuclear distribution gene E homolog like 1;nudE nuclear distribution gene E homolog-like 1;nude nuclear distribution gene e homolog like 1 (a. nidulans) APPROVED protein-coding ENSG00000166579 HGNC:17620 06340 607538 REVIEWED 1348797 NDE1 nudE neurodevelopment protein 1 This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 16 16 16 p13.11 15417601 15500696 + 15737124 15820210 + 15643267 15726353 + 633389;1580863;6480464;7240710;8699517;8554872 10940388 10931877;11076968;11163258;12221128;12427674;12477932;12556484;12852856;12885786;14623284;14702039;15161933;15324660;15342556;15489334;15616553;15797709;16291865;16462731;16682949;17185386;17600710;17997972;18178387;18303022;18469341;18469343;18983980;19000741;19468067;19946888;20048338;20072148;20084519;20360068;21529751;21529752;21911489;22526350;22843697;23443559;23704059;24722188;7790358 54820 I3L2R3;I3L2R9;I3L2S8;I3L2T8;I3L3G9;I3L464;I3L522;I3L533;Q9NXR1;X5DR54 ABBA01048900;ABBA01048901;ABBA01048902;ABBA01048903;ABBA01048904;AC026401;AC243629;AC243742;AF001548;AF124431;AK000108;AK025815;AK127927;BC001421;BC033900;BP271845;CH471226;KJ534887;KJ534967;KJ534991;KJ535028;NG_021210;NM_001143979;NM_017668;XM_005255396;XM_006720897;XM_006720898;XM_006720899;XM_006720900;XM_006725200;XM_006725201;XM_006725202;XM_006725203;XM_006725204;XR_243289;XR_430724 AAH01421;AAH33900;AHW56527;AHW56607;AHW56631;AHW56667;BAA90949;EAW53931;EAW53932;EAW53933;NP_001137451;NP_060138;Q9NXR1;XP_005255453;XP_006720960;XP_006720961;XP_006720962;XP_006720963;XP_006725263;XP_006725264;XP_006725265;XP_006725266;XP_006725267 Hs.655378 1645056;1648440;1679085;1681243;1683841;1729055;1767872;1771851;2124759;2127238;2168765;2219980 D16S3302;G10522;Myh11;NDE1__6219;RH64988;RH69889;RH79576;RH91407;SHGC-5890;SHGC-60785;SHGC-61040;WI-11470 FLJ20101;HOM-TES-87;LIS4;MHAC;NDE;NUDE;NUDE1 LIS1-interacting protein NUDE1, rat homolog;OTTHUMP00000160329;OTTHUMP00000160330;nuclear distribution protein nudE homolog 1;nudE nuclear distribution E homolog 1;nudE nuclear distribution gene E homolog 1 APPROVED protein-coding ENSG00000072864 HGNC:17619 14815 605013;609449;614019 REVIEWED 7314454 NDE1P1 nudE neurodevelopment protein 1 pseudogene 1 1 1 1 105534898 105535586 + 107360273 107360961 + 106817651 106818339 + 100422372 ABBA01028430;AL627169;AMYH02001652;NG_027124 pseudo HGNC:49115 INFERRED 8549095 NDFIP1P1 Nedd4 family interacting protein 1 pseudogene 1 12 12 12 23656569 23657093 - 18511377 18511901 - 18358443 18358967 - 100420792 ABBA01067922;AC092851;AMYH02026124;NG_023988 pseudo HGNC:49866 INFERRED 1601865 NDC1 NDC1 transmembrane nucleoporin ENCODES a protein that exhibits structural constituent of nuclear pore; INVOLVED IN nuclear pore complex assembly; nuclear pore distribution; FOUND IN membrane; nuclear pore; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; copper atom 1 1 1 p32.3 52518833 52591931 - 54231133 54304225 - 53765460 53838552 - 6480464 12477932;12958361;14702039;15489334;16565220;16600873;16702233;16710414;16779818;17081983;19703420;19782045;19946888;20360068;21139048;21890473;21906983;21963094;21987572;23000965;23314748;24816145 55706 B4DZG6;Q9BTX1 ABBA01074731;ABBA01074732;ABBA01074733;ABBA01074734;ABBA01074735;ABBA01074736;AK001269;AK001593;AK022618;AK025450;AK091439;AK295000;AK298909;AK302910;AL049745;AL354612;AL354613;AMYH02001042;BC003082;BM554303;BX648031;CH471059;DC413103;DQ141696;NM_001168551;NM_018087;NR_033142;XM_006710762 AAH03082;AAZ73087;BAA91592;BAB14135;BAC03665;BAG58064;BAG61017;BAG64078;CAB89725;CAB89726;EAX06731;EAX06732;EAX06733;NP_001162023;NP_060557;Q9BTX1;XP_006710825 Hs.476525 1654441;1852533;1921220;2158444 REN31432;SHGC-74855;SHGC-74860;WI-12414 FLJ10407;FLJ12556;FLJ34120;NET3;RP4-654H19.1;TMEM48;hNDC1 OTTHUMP00000009747;nuclear division cycle 1 homolog;nucleoporin NDC1;transmembrane protein 48 APPROVED protein-coding ENSG00000058804 HGNC:25525 08547 610115 VALIDATED 6481167 NDFIP2-AS1 NDFIP2 antisense RNA 1 13 13 80051499 80055366 - 79477364 79481231 - 100874208 ABBA01021691;AI025163;AL355603;AMYH02028339;HG505776;KF455802;NR_046685 Hs.602801 RP11-394M3.2 APPROVED ncrna ENSG00000232132 HGNC:40844 PREDICTED 1348759 ND6 mitochondrially encoded NADH dehydrogenase 6 ENCODES a protein that exhibits NADH dehydrogenase (ubiquinone) activity (inferred); INVOLVED IN cellular metabolic process (inferred); respiratory electron transport chain (inferred); small molecule metabolic process (inferred); ASSOCIATED WITH Epilepsies, Myoclonic; Heredodegenerative Disorders, Nervous System; Leigh Disease; FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); respiratory chain (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; atrazine MT MT 14149 14673 - 14149 14673 - 1581061;6480464;5491186;6482231;8554872;8657127;8699517;8657128;8657123;8657129;8657125;8657119 15922297;17535832;19732751;20019223;20130021;23129651;23665487;24398099;8016139 12112086;14671420;15470367;15952130;16337195;16604388;17045122;17452034;18440284;18485875;18674747;19050702;19247386;19394449;19758471;20052369;20301403;20301411;20691156;20809775;22262461;22879518;22947169;23674761;24061460 4541 P03923;U5Z977 J01415 AAB58954;YP_003024037 1735490;1736674;1744315;5094680 D1S2076E;D5S1608E;GDB:451664;PMC55343P12 MTND6 NADH dehydrogenase subunit 6;NADH dehydrogenase, subunit 6 (complex I) APPROVED protein-coding HGNC:7462 516006 PROVISIONAL 1320890 NDC80 NDC80 kinetochore complex component This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011] 18 18 18 p11.32 2446814 2491757 + 2571510 2616634 + 2571511 2616635 + 1580863;6480464;8554872 10409732;10779342;12351790;12386167;12477932;14602875;14654001;14699129;14978040;15062103;15133482;15235793;15239953;15371340;15489334;15502821;15504738;15548592;15713649;15824131;15931389;15961401;15964272;16169070;16189514;16565220;16732327;17093495;17129782;17195848;17363900;17822787;18195732;18297113;18455984;18782526;18794333;19468067;19553660;19776357;19878654;19946888;20231385;20360068;20508983;20944740;20948316;21056971;21139048;21199919;21266467;21270439;21297979;21325630;21352579;21693764;21832156;21890473;21900206;21906983;21963094;21987572;22371557;22454517;22505724;22561346;22581055;22908300;22939629;23000965;23056589;23085714;23474708;24129578;24187132;24324551;24327015;24722188;24816145;8384581;9295362;9315664 10403 A8K031;I3L0P0;I3L4G3;O14777;V9GYM9 ABBA01049831;AF017790;AK289396;AK313184;AMYH02034212;AMYH02034213;AP005061;AP005136;BC005239;BC010171;BC035617;CH471113;CS537821;JA885919;JA886353;JA886787;JA887221;JB234918;JB243618;JB254233;JB257206;JB264127;JB276747;JB311558;JB313848;JB318842;JB359907;JB819642;JB820076;NM_006101 AAB80726;AAH05239;AAH35617;ABM81691;ABM84854;BAF82085;BAG36001;CAM84948;CCQ77692;CCQ77701;CCQ77710;CCQ77719;CDH48198;CDH61620;CDH61674;CDH61693;CDH88991;CDH92529;CDH92543;CDH92554;CDH92801;CDH92898;CDI44673;CDI44682;EAX01696;EAX01697;NP_006092;O14777 Hs.414407 HEC;HEC1;HsHec1;KNTC2;TID3;hsNDC80 NDC80 homolog, kinetochore complex component;NDC80 kinetochore complex component homolog;OTTHUMP00000162206;highly expressed in cancer protein;highly expressed in cancer, rich in leucine heptad repeats;kinetochore associated 2;kinetochore protein Hec1;kinetochore protein NDC80 homolog;kinetochore-associated protein 2;retinoblastoma-associated protein HEC APPROVED protein-coding ENSG00000080986 HGNC:16909 06277 607272 VALIDATED 1320205 NDFIP2 Nedd4 family interacting protein 2 ENCODES a protein that exhibits signal transducer activity; WW domain binding; INVOLVED IN negative regulation of gene expression; negative regulation of protein transport; negative regulation of transporter activity; FOUND IN cytoplasm; endoplasmic reticulum; Golgi apparatus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 5-aza-2'-deoxycytidine 13 13 13 q31.1 60956330 61031747 + 80055259 80130212 + 79481098 79556077 + 631861;6480464 12050153 10574461;12477932;12761501;12796489;14702039;15057823;15252135;15489334;17013377;18776082;19322201;19343052;19953087;20522958;20534535;20686608;21139048;21890473;21906983;21963094;21987572;23000965;23377640;24250222;8889548 54602 B4DGY6;H0Y8A7;H7C5F7;Q9NV92 AB032991;AB097019;AB097028;AB097029;AB097030;AB097031;ABBA01021691;ABBA01021692;AK001723;AK098708;AK294839;AK297197;AL136442;AL355603;AMYH02028339;BC021988;BC026126;BM976935;CH471093;DC320871;NM_001161407;NM_019080;XM_006719840;XR_245389 AAH21988;AAH26126;BAA86479;BAA91863;BAC77372;BAC77381;BAC77382;BAC77383;BAC77384;BAG57947;BAG59684;EAW80599;NP_001154879;NP_061953;Q9NV92;XP_006719903 Hs.525093 1648380;1653772;1670145;1681524;1686334;1769267;5124701 RH44816;RH45196;RH75306;RH78426;RH93391;STS-AA037467;WI-22692 FLJ25842;KIAA1165;N4WBP5A MAPK-activating protein PM04 PM05 PM06 PM07;NEDD4 WW domain-binding protein 5A;NEDD4 family-interacting protein 2;NF-kappa-B-activating protein 413;OTTHUMP00000018541;OTTHUMP00000214859;OTTHUMP00000214860;putative MAPK-activating protein PM04/PM05/PM06/PM07;putative NF-kappa-B-activating protein 413 protein-coding ENSG00000102471 HGNC:18537 17629 610041 VALIDATED 1606239 NDNF neuron-derived neurotrophic factor ENCODES a protein that exhibits glycosaminoglycan binding (ortholog); heparin binding (ortholog); INVOLVED IN cell growth; negative regulation of neuron apoptotic process; neuron migration; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region; extracellular matrix (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; arsenite(3-); cisplatin 4 4 4 q27 119341856 119378753 - 121956782 121993673 - 121035627 121072518 - 6480464;8554872 12477932;12975309;16344560;16970039;20332099;20379614;20969804 79625 D6R972;D6RF18;Q8TB73 ABBA01044722;AC105254;AK026844;AK289615;AMYH02010005;AY358821;BC019351;BX359842;CH471056;DA807168;NM_024574 AAH19351;AAQ89180;BAB15573;BAF82304;EAX05266;NP_078850;Q8TB73 Hs.709520 1690526;2120824 D4S276;RH93971 C4orf31;FLJ23191 OTTHUMP00000163926;OTTHUMP00000220002;OTTHUMP00000220173;fibronectin type-III domain-containing protein C4orf31 APPROVED protein-coding ENSG00000173376 HGNC:26256 08019 VALIDATED 1321479 NDN necdin, melanoma antigen (MAGE) family member This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008] 15 15 15 q11.2-q12 2091460 2093348 - 23930554 23932450 - 23685407 23687303 - 1580863;1601480;6480464;7240710;8699517;8554872 9630521 10347180;10915798;10965153;11439287;11813259;11959851;12198120;12414813;12477932;12716928;12913118;1394972;14593116;15247330;15489334;15978586;16169070;17207965;17353931;18272695;18660489;19058789;19386232;19517793;19626646;20029029;20195357;20301505;20538960;20665884;20864041;21139048;21150695;21364888;21543378;21890473;21912643;22046235;22305984;22442722;22691188;22905258;23000965;23549060;23785149;24722188;9302265;9354807;9422723 4692 Q99608;X5D982 AB007828;ABBA01048682;AC124309;AF001013;AK129654;AK312779;AMYH02030086;BC008750;CH471151;KJ534888;KJ535010;NG_009380;NM_002487;U35139 AAB39469;AAH08750;ADQ32637;AHW56528;AHW56649;BAA22660;BAG35642;EAW57610;NP_002478;Q99608 Hs.50130 1663719;1793660;1796396 NDN_940;PMC24540P1;SGC30582 HsT16328;PWCR OTTHUMP00000159437;Prader-Willi syndrome chromosome region;necdin;necdin homolog APPROVED protein-coding ENSG00000182636 HGNC:7675 03667 176270;602117 REVIEWED 6481394 NDP-AS1 NDP antisense RNA 1 100873919 AL034370 APPROVED ncrna HGNC:40395 1343189 NDP Norrie disease (pseudoglioma) This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009] X X X p11.4 47947782 47972683 - 43808022 43832921 - 43948776 43973675 - 1600222;1580863;6480464;7240710;7365107;8554872;8699517;8694209;8694208;8694210 1303235;20053900;23085770;8252044;9152134 10484772;11076863;11285060;11322656;11337749;11748312;12145535;12477932;12546446;1301161;1303236;1303256;1303264;1307245;15035989;15489334;15489336;15609522;15799735;16052165;16344560;16381901;16714476;17050281;17158104;17296899;17325173;17334993;17955262;18029348;18387409;19373682;20227630;20301506;20301552;20340138;20427659;20491809;20801516;21159148;21179243;21736877;21832049;22183393;22246324;22321011;22563645;22674248;23383108;23444378;23824909;24186977;7558002;7627181;7795608;7835440;7993212;8069314;8240113;8268931;8298646;8589700;8790105;8946107;8990009;9143917;9143918;9382152;9407136 4693 Q00604 ABBA01046428;ABBA01046429;ABBA01046430;AK313409;AL034370;AMYH02039232;BC029901;BE139596;CH471141;DA714180;NG_009832;NM_000266;X65724;X65882 AAH29901;BAG36203;CAA46639;CAA46713;CAL37470;EAW59376;NP_000257;Q00604 Hs.522615 1656283;1661848;1702650;1744501;1745439;1745443;1745445;1745447;1745449;1745451;1793632;2108299;2177901;5117811 AF020217;GDB:511265;GDB:607650;GDB:607659;GDB:607664;GDB:607667;GDB:607670;GDB:607683;GDB:607687;NDP;NDP_8496;PMC24149P5;SHGC-12355;STS-X65724 EVR2;FEVR;ND OTTHUMP00000023168;X-linked exudative vitreoretinopathy 2 protein;norrie disease protein;norrin APPROVED protein-coding ENSG00000124479 HGNC:7678 02404 300658;305390;310600 REVIEWED 1319419 NDNL2 necdin-like 2 The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011] 15 15 15 q13.1 7197619 7199278 - 29560353 29562020 - 29268149 29269816 - 6480464 11782285;12477932;14593116;14702039;15302935;15489334;15635413;18086888;20360068;20864041;21139048;21364888;21890473;23000965;24250222 56160 Q96MG7 ABBA01010386;AC061965;AC243902;AF320911;AF490510;AK056957;AK074138;AU310582;BC035458;BC041166;BC053999;CH471205;NM_138704 AAG38607;AAH41166;AAH53999;AAM08357;BAB71325;BAB84964;EAW51515;NP_619649;Q96MG7 Hs.94011 1338879;1794868;2115120;2179042;5014591;5015861;5037552;7185938 D10S16;D6S1611;D8S2279;PMC64493P3;RH78472;STS-W04542;WI-17399 HCA4;MAGEG1;MAGEL3;NSE3;NSMCE3 MAGE-G1 antigen;OTTHUMP00000159576;hepatocellular carcinoma-associated protein 4;hepatocellular carcinoma-associated protein HCA4;melanoma antigen, family G, 1;melanoma-associated antigen G1;necdin-like gene 2;necdin-like protein 2 APPROVED protein-coding ENSG00000185115 HGNC:7677 10503 608243 REVIEWED 1353588 NDRG4 NDRG family member 4 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011] 16 16 16 q21-q22.1 42996552 43046481 + 58497549 58547523 + 58463645 58513619 + 1580863;6480464;7247726;7247728;7247727;8554872 21636852;22399192;22489821 10574461;11076863;11230166;11352569;11936845;11978393;12168954;12477932;12755708;14702039;15489334;15489336;16344560;16381901;16408304;19305408;19305409;19535783;19592488;20062063;20379614;22726844;22869042;23725756;24993691;8619474;9110174 65009 B7Z9X4;H3BM40;H3BM44;H3BM83;H3BMG5;H3BMR6;H3BN53;H3BN97;H3BNB4;H3BNE7;H3BNK4;H3BNQ1;H3BNX9;H3BPH8;H3BPQ3;H3BPT6;H3BPY2;H3BQ01;H3BQ86;H3BQJ4;H3BR92;H3BRT9;H3BS80;H3BSC3;H3BST8;H3BU08;H3BU25;H3BUH4;H3BUK1;H3BVB0;H3BVF3;Q9ULP0 AB021172;AB033006;AB044944;AB044945;AB044946;AB044947;ABBA01025306;ABBA01025307;AC009118;AF007138;AF308608;AK055038;AK055148;AK124005;AK126574;AK126729;AK131248;AK296415;AK299949;AK316089;AL136584;AMYH02032119;BC001527;BC011795;CF552009;CH471092;CR936733;DA069318;DA099057;DA242460;DB498690;KF456201;NM_001130487;NM_001242833;NM_001242834;NM_001242835;NM_001242836;NM_020465;NM_022910;NR_040072;XM_006721252;XM_006721253;XM_006721254;XM_006721255;XM_006721256;XM_006721257;XM_006721258;XM_006721259;XM_006721260;XM_006721261;XM_006721262 AAH11795;AAL08806;ACE87837;ACT64364;BAA86494;BAB20068;BAB20069;BAB20070;BAB20071;BAB20072;BAB20073;BAB20288;BAC86600;BAD18428;BAG51454;BAG54366;BAG59078;BAG61777;BAH14460;CAB66519;CAL37972;CAL38201;EAW82977;EAW82978;EAW82979;NP_001123959;NP_001229762;NP_001229763;NP_001229764;NP_001229765;NP_065198;NP_075061;Q9ULP0;XP_006721315;XP_006721316;XP_006721317;XP_006721318;XP_006721319;XP_006721320;XP_006721321;XP_006721322;XP_006721323;XP_006721324;XP_006721325 Hs.322430 1665307;1671864;1730187;1769495;1849367;1854702;2220266 A002O31;AB070095;D16S431E;HSC20H112;RH66375;UniSTS:77196;WI-14098 BDM1;DKFZp686I1615;FLJ30586;FLJ42011;KIAA1180;MGC19632;SMAP-8;SMAP8 N-myc downstream-regulated gene 4 protein;OTTHUMP00000164720;OTTHUMP00000164721;brain development-related molecule 1;smooth muscle-associated protein 8;vascular smooth muscle cell-associated protein 8 APPROVED protein-coding ENSG00000103034 HGNC:14466 14817 614463 REVIEWED 1318271 NDOR1 NADPH dependent diflavin oxidoreductase 1 This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 9 9 9 q34.3 110614341 110615026 + 140100119 140113813 + 137205667 137219361 + 6480464 10625700;12477932;12631275;12871938;12871939;15900210;16140270;16344560;18029348;20802492;21152063;21963094;22939629;23596212;7569905;8125298 27158 Q9UHB4 ABBA01022748;ABBA01022749;AF199509;AK026089;AK074403;AK225995;AK290026;AL133632;AL929554;AMYH02021926;AY077845;BC015735;BC078668;BC093782;BC111943;BC143229;BX255925;CH471090;DA408370;DA858250;KF458948;NM_001144026;NM_001144027;NM_001144028;NM_014434;XM_005266066;XM_006717056;XM_006717057 AAF25205;AAH15735;AAH93782;AAI11944;AAL77754;ABM83155;ABM86355;BAF82715;EAW88366;NP_001137498;NP_001137499;NP_001137500;NP_055249;Q9UHB4;XP_005266123;XP_006717119;XP_006717120 Hs.512564 1697502;2139111 RH102253;RH18280 MGC138148;NR1;bA350O14.9 NADPH dependent FMN and FAD containing oxidoreductase;NADPH-dependent FMN and FAD containing oxidoreductase;NADPH-dependent FMN and FAD-containing oxidoreductase;NADPH-dependent diflavin oxidoreductase 1;Novel reductase 1;OTTHUMP00000022695;OTTHUMP00000162579 APPROVED protein-coding ENSG00000188566 HGNC:29838 10444 606073 REVIEWED 1312297 NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009] 10 10 10 q22 68844842 68854762 - 75561669 75571589 - 73801911 73811831 - 1580863;6480464;6907045 11865082;12045103;12477932;12876215;15489334;16343444;16385451;24250222;9601056;9915799 8509 B4DU70;B4E139;H7C032;J3KNC8;P52849;S4R438 AB208870;ABBA01020308;AC022400;AF042084;AK293527;AK298957;AK300520;AK301251;AK303648;AK310580;AMYH02023339;BC018681;BC035711;BC110588;BC110589;CH471083;NM_003635;U36601;XM_005270255;XM_005270256;XM_006718046 AAB97086;AAC27120;AAH35711;AAI10589;AAI10590;BAD92107;BAG57009;BAG61053;BAG62232;BAG62818;BAG64651;EAW54525;EAW54526;NP_003626;P52849;XP_005270312;XP_005270313;XP_006718109 Hs.654758 1672432;1712334;1745805;1774241;1778406;1778834;2139651;2166491;2166493;5015961 A002M12;A006I22;D15S1477;G20846;G54076;GDB:642165;RH79148;SHGC-31617;WI-12185;WI-21009 HSST2;MGC129697;MGC129705;N-HSST 2;NDST-2;NST2 N-heparan sulfate sulfotransferase 2;OTTHUMP00000019842;bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2;glucosaminyl N-deacetylase/N-sulfotransferase 2 APPROVED protein-coding ENSG00000166507 HGNC:7681 04465 603268 REVIEWED 1315201 NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 ENCODES a protein that exhibits [heparan sulfate]-glucosamine N-sulfotransferase activity (inferred); deacetylase activity (inferred); INVOLVED IN heparan sulfate proteoglycan biosynthetic process (inferred); heparin biosynthetic process (inferred); PARTICIPATES IN heparan sulfate biosynthetic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH cyclosporin A; valproic acid; 17alpha-ethynylestradiol (ortholog) 4 4 4 q26 113041908 113327826 - 115748931 116035032 - 114827775 115113876 - 1580863;6480464;6907045;8554872 11087757;12477932;20332099;20379614;22843503;23825612;23897914;23953852 64579 Q9H3R1 AB036429;ABBA01063846;ABBA01063847;AC093656;AC097519;AC109821;AC110777;AK289670;AMYH02009959;AMYH02009960;AMYH02009961;BC012326;BC113075;CH471057;NM_022569 AAI13076;AAI56697;BAB18535;BAF82359;EAX06309;NP_072091;Q9H3R1 Hs.591700 1652731;1666779;1695938;1751413;2114321;2120277;2152315;2176756;2180951 AFM321yb1;D4S284;D4S569;D4S613;G33509;SHGC-105246;SHGC-51315;SHGC-78892;SHGC4-1645 N-HSST 4;NDST-4;NHSST4 N-heparan sulfate sulfotransferase 4;OTTHUMP00000163837;bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4;glucosaminyl N-deacetylase/N-sulfotransferase 4 protein-coding ENSG00000138653 HGNC:20779 10116 615039 PROVISIONAL 1320732 NDFIP1 Nedd4 family interacting protein 1 The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. [provided by RefSeq, Jul 2008] 5 5 5 q31.3 137569742 137615392 + 141488324 141534008 + 142108759 142154443 + 1580863;6480464;6893327;8554872 22417925 11042109;11748237;12477932;12761501;14702039;15489334;16303743;16344560;17207965;18776082;18819914;18854154;19343052;19706893;20534535;20972266;21102463;21139048;21187286;21833088;21890473;21906983;21963094;22213801;22561531;23087404;23128233;24798731 80762 Q9BT67 AA496123;AB097010;AB097037;ABBA01026388;AC011401;AI929639;AK075495;AK075524;AK124884;AK315481;AL832993;AMYH02012357;AMYH02012358;AY192728;BC004317;BX411356;CH471062;DA236494;NM_030571 AAH04317;AAP13460;ADQ31857;BAC11652;BAC11670;BAC77363;BAC77390;BAG37865;CAH56294;EAW61888;EAW61889;NP_085048;Q9BT67 Hs.653510;Hs.9788 1687540;1700086;1735522;1772322;1774009;1790753;1858120;2129459;2133577;2133579;2154703;2166652;5093652 5q31-33_33;A005V35;A009U22;D5S1650E;D5S1659E;G20540;G32844;NIB1384;RH103656;RH12496;RH47565;RH94132;WI-13415 MGC10924;N4WBP5 NEDD4 family-interacting protein 1;Nedd4 WW domain-binding protein 5;OTTHUMP00000160064;breast cancer-associated protein SGA-1M;putative MAPK-activating protein PM13;putative NF-kappa-B-activating protein 164;putative NFKB and MAPK-activating protein APPROVED protein-coding ENSG00000131507 HGNC:17592 14816 612050 REVIEWED 733822 NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 ENCODES a protein that exhibits [heparan sulfate]-glucosamine N-sulfotransferase activity (inferred); deacetylase activity (inferred); hydrolase activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); embryonic neurocranium morphogenesis (inferred); embryonic viscerocranium morphogenesis (inferred); PARTICIPATES IN heparan sulfate biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene 5 5 5 q33.1 145968756 146018856 + 149865365 149937773 + 150485805 150558211 + 1580863;6480464;6907045;8554872 10196134;10758005;11792394;12477932;12590599;12634318;14966466;15489334;19336475;19710461;19851296;19915053;20129923;20198315;21947487;22632162;22939629;23884416;7601448;9230113;9744796;9915799 3340 A8K8T3;E5RG24;E5RG58;E5RGN9;E7EVJ3;P52848 AB209107;ABBA01026276;ABBA01026277;AC008472;AC011383;AK292448;AK293746;AMYH02012461;AMYH02012462;BC012888;BC015828;CH471062;ES315645;KF510896;NM_001301063;NM_001543;U17970;U18918;U18932;U36600;XM_005268433;XM_005268434;XM_005268435;XM_005268436;XM_005268437;XM_005268438;XM_005268439;XM_005268440;XM_005268441;XM_005268442;XM_006714782;XM_006714783;XR_245854 AAA67765;AAA75281;AAC27354;AAH12888;BAD92344;BAF85137;BAH11586;EAW61720;EAW61721;EAW61722;NP_001287992;NP_001534;P52848;XP_005268490;XP_005268491;XP_005268492;XP_005268493;XP_005268494;XP_005268495;XP_005268496;XP_005268497;XP_005268498;XP_005268499;XP_006714845;XP_006714846 Hs.222055 1337507;1651418;1673423;2119402;2135224;2146230;2170466 A007E23;D5S1887;D5S2650;D5S636;HSC25B122;RH79124;WI-13830 HSNST 1;HSST;N-HSST 1;NDST-1;NST1 N-heparan sulfate sulfotransferase 1;OTTHUMP00000224347;OTTHUMP00000224348;[Heparan sulfate]-glucosamine N-sulfotransferase 1;bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1;glucosaminyl N-deacetylase/N-sulfotransferase 1;heparan sulfate-N-deacetylase/N-sulfotransferase protein-coding ENSG00000070614 HGNC:7680 02912 600853 VALIDATED 1350497 NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008] X X X q24 119460379 119465274 + 119005734 119010629 + 119871771 119876666 + 1580863;6480464;6907045;7240710;8554872;8699517 10200266;10330338;11937507;12084895;12477932;12611891;15038604;15489334;15854127;16169070;16729965;17209039;17262856;18157088;19185523;19343046;20153825;21596602;21906983;21963094;22505724;23791750;8938439;9224902;9878551 4694 O15239;Q6IBB5 AB451304;AB451435;ABBA01036619;AC002477;AMYH02040346;BC000266;BQ680674;CH471161;CR456889;NG_009381;NG_021227;NM_004541;U54993;X81900 AAD00084;AAH00266;BAG70118;BAG70249;CAA57489;CAG33170;EAW89840;NP_004532;O15239 Hs.534168 1856993;2150568;2164082 RH47820;RH77990;SHGC-57117 CI-MWFE;MWFE;ZNF183 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1;NADH oxidoreductase subunit MWFE;NADH-ubiquinone oxidoreductase MWFE subunit;NADH:ubiquinone oxidoreductase (complex 1);OTTHUMP00000023930;complex I MWFE subunit;complex I-MWFE;type I dehydrogenase APPROVED protein-coding HGNC:7683 02093 252010;300078 REVIEWED 1351390 NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa The protein encoded by this gene belongs to the complex I 42kDA subunit family. Mammalian complex I is the first enzyme complex in the electron transport chain of mitochondria. It is composed of 45 different subunits. This protein is a component of the hydrophobic protein fraction and has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 234570056 234638352 - 240896789 240964819 - 239957372 240025402 - 1580863;6480464;6907045;7240710;8699517;8554872 10330338;12477932;12611891;12665801;14702039;15342556;15489334;16806233;17342744;17601350;18976975;18977241;19064571;19343046;19615732;20301352;20301382;20301403;20877624;21139048;21890473;21906983;22461910;22939629;22990118;23752268;23910658;24244333;24457600;24639526;25027693;8088812;9878551 4705 C9J6X0;E7ESZ7;F8WEH0;H7C1Y7;H7C2W5;H7C2X4;O95299;Q8N1B9 AB209440;ABBA01048858;AC013469;AC114750;AF087661;AF087854;AF453834;AK025576;AK091719;AK290778;AMYH02006091;AMYH02006092;BC003417;BC031332;BI551914;BP208667;CH471063;NG_031855;NM_004544;XM_005247006;XM_006712543 AAD09755;AAH03417;AAH31332;AAL50984;AAP97164;AAX93150;AAY14737;ABM81937;ABM85117;BAD92677;BAF83467;EAW71172;EAW71173;EAW71174;EAW71175;NP_004535;O95299;XP_005247063;XP_006712606 Hs.277677 1336468;1651679;1651681;1676362;1714839;1734908;1767323;1781282;1783986;2126805;2134919;2148649;5014051;5015621;5022200;5037552 A005S39;D11S3732;D2S1682E;D2S2285;D8S2278;D8S2279;G09855;G20470;G31180;L18426;RH120414;RH65970;RH80104;SHGC-142250;STS-Z40082;WI-22271 CI-42KD;CI-42k;FLJ21923;MGC5103 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial;NADH-ubiquinone oxidoreductase 42 kDa subunit;OTTHUMP00000164498;OTTHUMP00000201633;OTTHUMP00000201634;OTTHUMP00000201635;complex I 42kDa subunit;complex I-42kD APPROVED protein-coding ENSG00000130414 HGNC:7684 11950 256000;603835 REVIEWED 1316419 NDRG1 N-myc downstream regulated 1 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 8 8 8 q24.3 130427338 130487468 - 134249414 134309835 - 133237171 133297304 - 1580863;6480464;6484113;7240710;8554872;8699517 10395947;10676663;10831399;11006124;11237058;11352569;11835375;11936845;12046693;12429530;12432451;12477932;12483528;12493777;12702552;12767066;12872253;12962147;14702039;14966915;15247272;15251988;15302935;15377670;15461589;15489334;15582665;15607035;15867226;15922294;16169070;16288478;16314423;16344560;16421571;16622835;16707596;16778198;16832411;16920733;16964243;17069588;17081983;17220478;17316623;17488873;17569115;17601350;17786215;17909017;18029348;18377423;18455888;18582504;18602353;18653908;18977241;19020710;19046768;19056867;19082468;19259744;19337694;19414333;19491262;19622774;19649210;19682504;19760510;19775754;19800102;19847997;20173668;20301532;20301641;20348948;20369286;20379614;20388062;20403915;20416281;20573444;20664979;20706999;20853080;21052891;21139048;21181370;21184144;21221878;21236457;21454613;21463610;21575456;21706236;21708134;21735144;21763068;21775055;21784644;21906983;21909787;21912630;21976667;22187533;22453918;22462691;22481237;22678098;22722710;22844455;22863883;22939629;22972152;22978647;23099645;23188716;23192272;23296375;23377825;23437357;23526365;23634903;23671130;23726511;23813961;23846687;23874544;23874837;23899187;23973486;23996628;23999030;24302615;24367102;24386364;24457600;24532803;25027693;8125298;8841199;8939898;9251681;9605764;9766676 10397 E5RG99;E5RGG6;E5RGM5;E5RH82;E5RI76;E5RIM2;E5RIR1;E5RIV1;E5RJ98;E5RJY1;E5RK17;E7ESM1;Q8N959;Q92597 ABBA01014197;AF004162;AF039944;AF147402;AF192304;AF230380;AK091147;AK091269;AK095649;AK096562;AK124709;AK126924;AK129867;AK130985;AK223542;AK296794;AK297342;AK298236;AK299636;AK307829;AK308117;AMYH02018812;AU141826;AY277597;BC003175;BC006260;BX648361;CH471060;CR456842;D87953;DC343351;DC353531;KC877357;KC877358;KC877360;KC877364;KC877366;KC877370;NG_007943;NM_001135242;NM_001258432;NM_001258433;NM_006096;X92845 AAC13419;AAF71305;AAH03175;AAQ18036;ABM83878;ABM87198;BAA13505;BAC04597;BAD97262;BAG52292;BAG53324;BAG54074;BAG54400;BAH12432;BAH12556;BAH12741;BAH13083;CAA63430;CAG33123;EAW92164;EAW92165;EAW92166;NP_001128714;NP_001245361;NP_001245362;NP_006087;Q92597 Hs.372914;Hs.618002 1718451;1770776;1786838;2131069;2146025 D8S1397E;RH122426;RH12558;RH12615;SHGC-172455 CAP43;CMT4D;DRG-1;DRG1;GC4;HMSNL;NDR1;NMSL;PROXY1;RIT42;RTP;TARG1;TDD5 N-myc downstream-regulated gene 1 protein;OTTHUMP00000226721;OTTHUMP00000226723;OTTHUMP00000226725;differentiation-related gene 1 protein;nickel-specific induction protein Cap43;protein regulated by oxygen-1;reducing agents and tunicamycin-responsive protein;tunicamycin-responsive protein APPROVED protein-coding ENSG00000104419 HGNC:7679 05586 601455;605262 REVIEWED 1353803 NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] 19 19 19 p13.3 5830248 5842986 - 5891287 5904024 - 5891276 5904013 - 1580863;6480464;6907045;7240710;8699517;8554872 12381726;12477932;12611891;12665801;12951057;15489334;18306244;21139048;21890473;21906983;21963094;24250222 126328 K7ELJ0;K7EQ77;Q86Y39 ABBA01055983;AC024592;AC104532;AI125604;AI272174;AJ539081;AK127692;AL546175;AMYH02035341;AMYH02035342;AY726561;BC069045;BI160094;BP432135;BQ054257;BQ671956;BQ955016;CH471139;CS072484;NG_027808;NM_001193375;NM_175614;NR_034166 AAH69045;BAC87088;CAD62165;CAI93622;EAW69131;EAW69132;EAW69133;NP_001180304;NP_783313;Q86Y39 Hs.406062 1665853;1748849 SHGC-110515;STS-N92586 B14.7;CI-B14.7;FLJ76501 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11;NADH-ubiquinone oxidoreductase subunit B14.7;complex I B14.7 subunit;complex I-B14.7 APPROVED protein-coding ENSG00000174886 HGNC:20371 14818 252010;612638 REVIEWED 1322156 NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq, Nov 2008] 4 4 4 q26 116246834 116470914 + 118955500 119179789 + 118033522 118258634 + 6480464;6907045;8554872 11087757;12070138;12417402;12477932;12975309;15489334;15815621;18692483;20332099;20379614;20549515;21948523;24253340;9847074;9915799 9348 O95803 ABBA01063872;ABBA01063873;AC096762;AC108201;AC110999;AC116639;AF074924;AF076605;AK295439;AMYH02009983;AMYH02009984;AY358852;BC034037;BC109309;BC109310;BE348441;CH471057;HQ234312;NM_004784;XM_006714416 AAD15978;AAD46061;AAI09310;AAI09311;AAQ89211;AAY41001;AAY41056;BAG58379;EAX06313;NP_004775;O95803;XP_006714479 Hs.480596 1655703;1682115;1770642;1856025;2133700;2133920;2182739;5017450 D4S851;G11814;L29670;RH17746;SHGC-19042;SHGC-50329;SHGC-67340;TAGA006 HSST3;MGC130028;MGC130029;N-HSST 3;NDST-3;hNDST-3 GlcNAc N-deacetylase/ N-sulfotransferase 3;N-heparan sulfate sulfotransferase 3;OTTHUMP00000163902;bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3;glucosaminyl N-deacetylase/N-sulfotransferase 3 APPROVED protein-coding ENSG00000164100 HGNC:7682 603950 REVIEWED 4890231 NDUFA12P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 pseudogene 1 13 13 100680023 100680428 - 100027769 100028174 - 100527945 ABBA01027100;AL355338;AMYH02028602;NG_027984 pseudo HGNC:39419 INFERRED 1603389 NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] 12 12 12 q22 95036378 95068792 - 95365104 95397489 - 94971328 95003713 - 6480464;6907045;7240710;8699517;8554872 10409428;10830904;10931946;12477932;12611891;12857734;15489334;18029348;20301352;20301382;20301403;20877624;21139048;21617257;21890473;21900206;21906983;22082156;22505724;22939629;23000965;24250222;24717771;24816145;8125298;9827566 55967 F8VRD8;F8VXI1;H0YID5;H0YIT1;Q9UI09 ABBA01053349;ABBA01053350;ABBA01053351;AC011598;AF112208;AF217092;AK222619;AMYH02026966;BC005936;BG943528;BM548072;BT007220;BU532909;CH471054;DW441120;NG_032672;NM_001258338;NM_018838;U34343 AAB03380;AAF17196;AAF91224;AAH05936;AAP35884;BAD96339;EAW97515;EAW97516;NP_001245267;NP_061326;Q9UI09 Hs.506374 1679011 RH41825 B17.2;DAP13 13 kDa differentiation-associated protein;13kDa differentiation-associated protein;CI-B17.2;CIB17.2;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12;NADH-ubiquinone oxidoreductase subunit B17.2;NADH: ubiquinone oxidoreductase;OTTHUMP00000242806;OTTHUMP00000242992;OTTHUMP00000242998;complex I B17.2 subunit;complex I-B17.2 APPROVED protein-coding ENSG00000184752 HGNC:23987 16781 256000;614530 REVIEWED 1315300 NDRG3 NDRG family member 3 FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; cobalt dichloride 20 20 20 q11.21-q11.23 31987719 32081988 - 35280169 35374541 - 36651766 36746138 - 1580863;6480464 10831399;11352569;11406283;11780052;11936845;12477932;14702039;16344560;17998568;18975380;19056867;19322201;19460752;21139048;21725618;21890473;22939629;23725756;24250222;24654937;24816145 57446 B7Z341;F8WBF9;Q5TH29;Q5TH30;Q9UGV2 AA903471;AB044943;ABBA01006585;ABBA01006586;ABBA01006587;ABBA01006588;ABBA01006589;AF308609;AK023618;AK027665;AK128068;AK295420;AK295466;AL031662;AL132768;AMYH02037032;AMYH02037033;AMYH02037034;AMYH02037035;AMYH02037036;BC136489;BC144169;CH471077;DA788570;NM_022477;NM_032013;NR_038370;XM_006723837;XM_006723838 AAI36490;AAI44170;AAL08807;BAB14620;BAB20067;BAB55277;BAH12059;BAH12077;EAW76109;EAW76110;EAW76111;EAW76112;EAW76113;EAW76114;EAW76115;NP_071922;NP_114402;Q9UGV2;XP_006723900;XP_006723901 Hs.437338 1687267;1773172;1848217;1850243;1852520;2116809;2138220;2138222;2147140;2164086;2174178;2219982;5022578 A002D04;D1S1423;D20S749;D20S788;D20S827;G09579;G19945;IB290;NDRG3__6220;RH60;RH66071;RH93517;WI-11416 FLJ13556 N-myc downstream-regulated gene 3;OTTHUMP00000030882;OTTHUMP00000030884;OTTHUMP00000178597 protein-coding ENSG00000101079 HGNC:14462 12007 605273 VALIDATED 7207307 NDUFA3P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 1 19 19 19 q13.31 41605340 41605594 + 44801249 44801574 + 44297096 44297421 + 100131388 ABBA01040876;AC138473;AMYH02036178;NG_030059 pseudo ENSG00000267590 HGNC:45043 INFERRED 7207938 NDUFA3P3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 3 1 1 1 q42.12 199342931 199343184 + 226151869 226152194 + 225964169 225964494 + 644482 ABBA01009661;AL117348;AMYH02002800;NG_030212 pseudo HGNC:45052 INFERRED 1352480 NDUFA4 NDUFA4, mitochondrial complex associated The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008] 7 7 7 p21.3 10947593 10954592 - 10971580 10979813 - 10931953 10940186 - 1580863;6480464;6907045 12477932;12611891;12690205;15489334;16729965;19822128;20877624;20972266;21139048;21145461;21832049;21890473;21906983;21963094;23000965;23246001;23455922;23602568;23746447;23798571;24457600;9352085;9878551 4697 O00483 ABBA01056550;ABBA01056551;AC007029;AF201077;AK024837;AK130950;AMYH02015229;BC101794;BC101796;BC105295;BG623521;CH236948;CH471073;CR407618;CR541716;NM_002489;U94586 AAB52726;AAF09253;AAI01795;AAI01797;AAI05296;CAG28546;CAG46517;EAL24297;EAW93630;EAW93631;EAW93632;NP_002480;O00483 Hs.50098 1648397;1686040;2182864;2220624 RH36185;RH70516;SHGC-75243;UniSTS:486201 CI-9k;CI-MLRQ;FLJ27440;MGC104422;MGC126843;MGC126845;MLRQ Complex I 9kDa subunit;NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4;NADH-ubiquinone oxidoreductase MLRQ subunit;OTTHUMP00000115954;complex I-MLRQ APPROVED protein-coding ENSG00000189043 HGNC:7687 04831 603833 REVIEWED 1348333 NDUFA4P2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 2 3 3 3 q13.11 101356013 101356258 + 102959833 102960078 + 103240989 103241234 + 20379614 100287880;404215 ABBA01061756;AC021064;AC025028;AC117484;AMYH02007334;NG_022262 1708330;1710132;1715209;1717565;1753499 RH119855;RH122087;SHGC-107397;SHGC-81553;SHGC-81564 NDUFA4L;bcm1723 APPROVED pseudo HGNC:31362 INFERRED 1606289 NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009] 19 19 19 p13.2 19531078 19543075 + 19626550 19639858 + 19516210 19528204 + 6480464;6907045;7240710;8554872 10810093;10924506;10926209;10931946;11522775;12163600;12477932;12611891;12628925;12837546;12867595;15231747;15342556;15367666;15489334;15753091;16196087;16341674;16826196;17209039;17297443;17500595;17523870;17616678;17626740;17823279;17928352;18022871;18029348;18278448;18287540;19622307;19642906;20186120;20478305;20505682;20522552;20595633;20877624;21040996;21139048;21351527;21664299;21765936;21827581;21890473;21906983;21963094;22105514;22492280;22505724;22573109;22939629;22990118;23124042;23271731;23386605;23529854;23580587;23618357;23630608;23851499;23974872;24133585;24816145 51079 B4DEZ3;K7EJE1;K7EP87;Q9P0J0;U3KQP3 ABBA01051334;ABBA01051335;AC011448;AF261134;AF286697;AK293859;AMYH02035759;BC000589;BC009189;BG705222;BG724220;BM839920;BP230223;CH471106;DB450544;NG_013380;NM_015965 AAG28167;AAG44670;AAH00589;AAH09189;BAG57254;EAW84826;NP_057049;Q9P0J0 Hs.534453 1794590;5095018 PMC321570P5;TSSK6 B16.6;CDA016;CGI-39;FLJ58045;FLJ59191;GRIM-19;GRIM19 CI-B16.6;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13;NADH-ubiquinone oxidoreductase B16.6 subunit;OTTHUMP00000221579;cell death regulatory protein GRIM-19;cell death-regulatory protein GRIM19;complex I B16.6 subunit;complex I-B16.6;gene associated with retinoic and IFN-induced mortality 19 protein;gene associated with retinoic and interferon-induced mortality 19 protein APPROVED protein-coding HGNC:17194 09452 607464;609435 REVIEWED 1606902 NDUFA4P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 1 1 1 1 p13.3 106222504 106223004 + 108047750 108048250 + 107505128 107505628 + 21145461 360165 ABBA01028428;AC114491;AF206638;AMYH02001658;NG_002998 1686040;2182864;2220624 RH70516;SHGC-75243;UniSTS:486201 NDUFA4 pseudo HGNC:29835 INFERRED 732058 NDRG2 NDRG family member 2 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may play a role in neurite outgrowth. This gene may be involved in glioblastoma carcinogenesis. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1345785 1354798 - 21484922 21539098 - 21016763 21070872 - 1580863;6480464 10574462;10831399;11076863;11230166;11256614;11352569;11936845;11978393;12477932;12845671;14572661;14702039;15067004;15207261;15461589;15489334;15489336;15526377;15670829;16103061;16344560;16381901;16712791;17050536;17109818;17470364;17688410;17888401;17911180;17935612;18029348;18209490;18519680;18591767;18636358;18689861;18709645;18844221;18940011;19199708;19204049;19237607;19336468;19434539;19450561;19483300;19775754;20045673;20206160;20331630;20438703;20607352;20886841;21220491;21226903;21247902;21352815;21623166;21672576;21676268;21705028;21741166;21771789;21872476;22043305;22110735;22135002;22138128;22246425;22393400;22528516;22565195;22692967;22696597;22920753;23010743;23056173;23068607;23142642;23307246;23451161;23630579;23800335;23900729;24134849;24146910 57447 G3V237;G3V239;G3V271;G3V280;G3V285;G3V2A6;G3V2I9;G3V2S0;G3V2T2;G3V2Y3;G3V358;G3V383;G3V392;G3V3C3;G3V3D5;G3V3L1;G3V3P1;G3V3P6;G3V3X2;G3V3X3;G3V420;G3V4S2;G3V4S9;G3V4T9;G3V4X3;G3V552;G3V578;G3V5A6;G3V5B5;G3V5B7;G3V5D7;G3V5G0;G3V5G7;G3V5H8;G3V5L7;G3V5P9;G3V5S0;G3V5V9;H0YJ56;H0YJT9;H7C0X0;Q9UN36 AB033074;ABBA01061238;ABBA01061239;AF087872;AF159092;AF304051;AK024521;AK057843;AK057847;AK090657;AK096999;AK098388;AK130029;AK293514;AL136574;AL161668;AMYH02028827;AW163815;AY028430;BC010458;BC011240;BC013209;BC093038;BF341160;BG818977;BI759006;BM810623;BX247987;BX248031;BX647091;BX647748;CB153966;CH471078;CR749252;DA065447;NM_001282211;NM_001282212;NM_001282213;NM_001282214;NM_001282215;NM_001282216;NM_016250;NM_201535;NM_201536;NM_201537;NM_201538;NM_201539;NM_201540;NM_201541;XM_005267892;XM_005267893;XM_005267894;XM_005267895;XM_005267896;XM_005267898;XM_005267899;XM_005267900;XM_005267901;XM_005267902;XM_005267903;XM_005267904;XM_005267905;XM_005267911 AAD43131;AAH10458;AAH11240;AAH93038;AAK50340;AAL08624;AAM10500;BAA86562;BAG53405;BAG56997;CAB66509;CAD62321;CAD62350;CAH18108;CAL37549;EAW66422;EAW66423;EAW66424;EAW66425;EAW66426;EAW66427;EAW66428;EAW66429;EAW66430;NP_001269140;NP_001269141;NP_001269142;NP_001269143;NP_001269144;NP_001269145;NP_057334;NP_963293;NP_963294;NP_963831;NP_963832;NP_963833;NP_963834;NP_963835;Q9UN36;XP_005267949;XP_005267950;XP_005267951;XP_005267952;XP_005267953;XP_005267955;XP_005267956;XP_005267957;XP_005267958;XP_005267959;XP_005267960;XP_005267961;XP_005267962;XP_005267968 Hs.525205 1652117;1736412;2147882;2172827;2173618;2173620;5020948 A002P21;D14S674E;D14S775;D14S909;G35510;RH1633;T03744 DKFZp781G1938;FLJ25522;KIAA1248;SYLD N-myc downstream regulator 2;NDR1-related protein NDR2;OTTHUMP00000164405;OTTHUMP00000164406;OTTHUMP00000164407;OTTHUMP00000164408;OTTHUMP00000164409;OTTHUMP00000164410;OTTHUMP00000245109;OTTHUMP00000245110;OTTHUMP00000245111;OTTHUMP00000245112;OTTHUMP00000245113;OTTHUMP00000245114;OTTHUMP00000245116;OTTHUMP00000245117;OTTHUMP00000245118;OTTHUMP00000245128;OTTHUMP00000245130;OTTHUMP00000245138;OTTHUMP00000245185;OTTHUMP00000245889;OTTHUMP00000245890;cytoplasmic protein Ndr1;n-myc downstream-regulated gene 2;syld709613 protein APPROVED protein-coding ENSG00000165795 HGNC:14460 17630 605272 REVIEWED 1320645 NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 5 5 5 q31.2 136101693 136104115 - 140024948 140027370 - 140645363 140647785 - 1580863;1300048;6480464;6907045;7240710;8699517;8554872 11042152;12477932;12611891;15341729;15489334;17209039;18513682;18826940;19738201;20301352;20301382;20301403;20713893;20877624;21832049;21900206;22623428;22939629;24816145;8889548;9425316;9763676;9878551 4695 O43678 AA993683;AB054976;ABBA01026423;AC116353;AF047185;AF077029;AMYH02012340;BC003674;BM706616;BQ054127;CH471062;CR457016;NG_021417;NM_001185012;NM_002488;NR_033697;Y16003 AAC04270;AAD27762;AAH03674;BAB21453;CAG33297;EAW62031;NP_001171941;NP_002479;O43678 Hs.75914 1657850;2127317;2175572;5093984 A010A06;G33038;RH78253;RH78886 B8;CD14;CIB8 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2;NADH-ubiquinone oxidoreductase B8 subunit;NADH-ubiquinone oxidoreductase subunit CI-B8;OTTHUMP00000159890;OTTHUMP00000223709;complex I B8 subunit;complex I-B8 APPROVED protein-coding ENSG00000131495 HGNC:7685 11883 256000;602137 REVIEWED 1350399 NDUFA5P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 1 11 11 p15 3343099 3344020 + 3321869 3322790 + 737635 9021153 4699 AC109309;NG_031920 APPROVED pseudo HGNC:7689 INFERRED 7247097 NDUFA5P12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 12 8 8 8 q11.1 44060146 44060886 + 48076500 48077152 + 47164877 47165529 + 100288013 ABBA01018446;AC120036;AMYH02017932;NG_030254 pseudo HGNC:48854 INFERRED 7246995 NDUFA5P3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 3 9 9 9 p22.1 19309314 19309981 - 19383218 19383885 - 19383220 19383887 - 100288035 ABBA01065196;AL391834;AMYH02019263;NG_021609 pseudo HGNC:48845 INFERRED 7247200 NDUFA5P4 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 4 9 9 9 p13.3 35808351 35808735 - 35874810 35875191 - 35874813 35875194 - 100128136 ABBA01064982;AL133410;AMYH02019466;NG_030085 pseudo HGNC:48846 INFERRED 7247191 NDUFA5P5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 5 3 3 3 p11.1 89403917 89404258 + 88650211 88650549 + 88601061 88601399 + 100130327 ABBA01004639;AC117510;AMYH02007224;NG_030112 pseudo HGNC:48847 INFERRED 7246990 NDUFA5P6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 6 12 12 12 q24.32 126614839 126615241 + 127008796 127009171 + 126524250 126524625 + 100288339 ABBA01060317;AC006065;AMYH02027497;NG_030134 pseudo HGNC:48848 INFERRED 7246967 NDUFA5P9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 9 6 6 6 q14.3 87343113 87343466 - 86923953 86924294 - 86214235 86214576 - 100289579 ABBA01040482;AL355354;AMYH02014046;NG_030181 pseudo HGNC:48851 INFERRED 7242081 NDUFA6-AS1 NDUFA6 antisense RNA 1 (head to head) ASSOCIATED WITH Melanoma (inferred) 22 22 22 q13.2 26293139 26327555 + 42486937 42521354 + 42090933 42125349 + 8554872 12477932;14702039;16344560 100132273 ABBA01055661;ABBA01055662;ABBA01055663;AC236040;AC254562;AK123630;AL021878;AMYH02038455;BC039542;BX247885;DA317430;NR_034118 Hs.709677 1659210;1665522;1684572;1700664;2111962;2129527 A008Y37;D22S1585;RH103955;RH78147;SHGC-32373;WIAF-1615 ncrna ENSG00000237037 HGNC:45273 VALIDATED 1601990 NDUFA4L2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsane; arsenic atom; arsenite(3-) 12 12 12 q13.3 57282913 57288773 - 57628686 57634545 - 57234903 57240762 - 6480464;6907045;8554872 10931946;12477932;14702039;15489334;16169070 56901 G3V560;Q9NRX3 ABBA01026707;AC137834;AF164796;AK094275;AK129629;AMYH02026578;BC011910;CH471054;CR457176;NM_020142;XM_005269033;XM_005269034 AAF80760;AAH11910;CAG33457;EAW97002;EAW97003;NP_064527;Q9NRX3;XP_005269090;XP_005269091 Hs.75069 1682139;1775592;1789098;2139180;2183429;2184840 G65683;L11932;RH15808;RH47705;RH71214;STS-W84778 FLJ26118 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2;NADH-ubiquinone oxidoreductase MLRQ subunit homolog;NADH:ubiquinone oxidoreductase MLRQ subunit homolog;NUOMS;OTTHUMP00000245714 protein-coding ENSG00000185633 HGNC:29836 14249 PROVISIONAL 1349430 NDUFA9P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1 22 22 22 q12.3 20095782 20097064 - 36293180 36294467 - 35897132 35898419 - 10978293 266625 ABBA01055427;AF196991;AL079295;AMYH02038312;KF510602;NG_002366;NG_029628 1681227;1760315 D22S971E;SHGC-170363 dJ106I20.2 pseudo HGNC:19252 INFERRED 1323447 NDUFA3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa INVOLVED IN cellular metabolic process (inferred); respiratory electron transport chain (inferred); small molecule metabolic process (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; FOUND IN mitochondrial respiratory chain complex I; mitochondrion; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; all-trans-retinoic acid 19 19 19 q13.42 51645840 51649962 + 54606160 54610281 + 54102852 54106974 + 1580863;1300048;6480464;6907045 11042152;12477932;12611891;15489334;17601350;18977241;19343046;20877624;21048031;21890473;24250222;24717771;9878551 4696 A8MUI2;A8MVM8;A8MYJ8;F2Z2C6;H7C0D7;H7C2R1;O95167;Q6FGG4;S4R3I5;S4R3T6 ABBA01068175;AC012314;AC245052;AF044955;AF070653;AK289489;BC011021;BC022369;BC061644;CH471135;CR542143;NM_004542 AAD05420;AAD20959;AAH22369;AAH61644;ABM82286;ABM85466;BAF82178;CAG46940;EAW72179;EAW72180;EAW72181;EAW72182;EAW72183;EAW72184;NP_004533;O95167 Hs.198269 1804492;1810342;1820786;2040992;2040994;2040996;2040998;2041000;2041002;2041004;2041006;2041008;2041010;2041012;2041014;2041016;2041018;2041020;2041022;2041024;2041026;2041028;2041030;2041032;2041034;2041036;2041038;2041040;2103558;2103560;2103562;2103564;2103566;2161833;5016933 D9S923;ECD03174;ECD06163;ECD11468;REN91530;REN91531;REN91532;REN91533;REN91534;REN91535;REN91536;REN91537;REN91538;REN91539;REN91540;REN91541;REN91542;REN91543;REN91544;REN91545;REN91546;REN91547;REN91548;REN91549;REN91550;REN91551;REN91552;REN91553;REN91554;RH41817;stSG605786;stSG605787;stSG605788;stSG605789;stSG605790 B9;CI-B9 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3;NADH-ubiquinone oxidoreductase B9 subunit;OTTHUMP00000067461;OTTHUMP00000194974;OTTHUMP00000194975;OTTHUMP00000194976;OTTHUMP00000197710;complex I B9 subunit;complex I-B9 protein-coding HGNC:7686 04830 603832 VALIDATED 1312128 NDUFA7 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011] 19 19 19 p13.2 8232759 8242806 - 8373492 8386452 - 8308608 8321533 - 1580863;1300048;6480464;6907045 11042152;11318610;12477932;12611891;15231747;15489334;16169070;16344560;17601350;18977241;19060904;19343046;20877624;21890473;22505724;22939629;9345899;9763676;9878551 4701 M0R0N0;M0R1K9;O95182;Q6FG42 ABBA01010852;AC010323;AF050637;AF054178;AMYH02035438;BC003102;BC107892;CR456915;CR542266;DA189271;NG_028213;NM_005001;XR_246670 AAC99399;AAD05427;AAH03102;AAI07893;CAG33196;CAG47062;NP_004992;O95182 Hs.333427 1669246;1772769;1849595;2131038;2135747;2165238;5097045 D19S1020;G62109;RH77704;RH78597;RP_S28_1;SGC30650;WI-17737 B14.5a CI-B14.5a;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7;NADH-ubiquinone oxidoreductase subunit B14.5a;complex I B14.5a subunit;complex I-B14.5a APPROVED protein-coding ENSG00000267855 HGNC:7691 11885 602139 REVIEWED 1314815 NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa The protein encoded by this gene belongs to the complex I 19 kDA subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95554625 95570387 - 124894745 124922098 - 122132466 122159819 - 1580863;1300048;6480464;6907045 10330338;11349233;12477932;12611891;15489334;17314511;17601350;18029348;18977241;19343046;20379614;20877624;21139048;21310150;21890473;21906983;21963094;21987572;22505724;23000965;23251661;23455924;24250222;24726327;25015289;9150947;9760212;9763677;9860297;9878551 4702 P51970 ABBA01043709;AF044953;AK301520;AK314135;AL162423;AMYH02021586;BC001016;BU602971;CH471090;NM_014222;XM_005251998 AAD42056;AAH01016;BAG36825;BAH13504;EAW87511;NP_055037;P51970;XP_005252055 Hs.495039 1712282;2108301;2118859;5110987 G54050;NDUFA8_8498;RH78545;WI-16104 CI-19KD;CI-PGIV;MGC793;PGIV NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8;NADH-ubiquinone oxidoreductase 19 kDa subunit;NADH:ubiquinone oxidoreductase PGIV subunit;OTTHUMP00000022034;complex I PGIV subunit;complex I-19kD;complex I-PGIV APPROVED protein-coding ENSG00000119421 HGNC:7692 04525 603359 REVIEWED 1316424 NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010] 12 12 12 p13.3 6380296 6418724 + 4758264 4796720 + 4649098 4687554 + 1580863;1300048;6480464;6907045;7240710;8699517;8554872 11112787;12477932;12611891;15489334;15965058;16023078;16712791;16806233;17207965;17209039;17342744;17353931;17500595;17601350;18287540;1832859;18485875;18794531;18977241;19027726;19064571;19103604;19738201;20186120;20301352;20301382;20301403;20877624;21139048;21890473;21906983;21963094;22114105;22268729;22939629;23223238;24457600;24816145;8012384;8486360;9878551 4704 F5GY40;F5H0J3;H0YGX0;Q16795 ABBA01048764;AC005832;AF050641;AK291067;AK308588;AMYH02025928;BC003351;BC009311;BC015837;BC111546;CB110957;CH471116;L04490;NG_032124;NM_005002;R44283;X76665 AAA36350;AAD42055;AAH03351;AAH09311;AAH15837;AAI11547;ADQ31784;BAF83756;CAA54099;EAW88837;EAW88838;EAW88839;NP_004993;Q16795 Hs.75227 1681227;1760519;1769757;1851354;2184178;5022578 D12S2027;D1S1423;D22S971E;RH17595;SHGC-143746;SHGC-30312 CC6;CI-39k;CI39k;MGC111043;NDUFS2L;SDR22E1 CI-39kD;NADH dehydrogenase (ubiquinone) Fe-S protein 2-like (NADH-coenzyme Q reductase);NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial;NADH-ubiquinone oxidoreductase 39 kDa subunit;OTTHUMP00000238362;complex I 39kDa subunit;complex I-39kD;short chain dehydrogenase/reductase family 22E, member 1 APPROVED protein-coding HGNC:7693 04832 256000;603834 REVIEWED 1313754 NDUFAB1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa ENCODES a protein that exhibits fatty acid binding (ortholog); INVOLVED IN protein lipoylation; PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; FOUND IN mitochondrial respiratory chain complex I; mitochondrial matrix (ortholog); mitochondrial membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4-hydroxyphenyl retinamide; arsenous acid 16 16 16 p12.2 22370508 22385819 - 23592335 23607639 - 23581014 23596318 - 1580863;1300048;6480464;6907045 10234612;10493829;12477932;12611891;12882974;15489334;17554300;17601350;18230186;18977241;1907568;19221180;19343046;20877624;21890473;21988832;9763677;9878551 4706 H3BNE8;H3BNK3;I3L505;O14561 ABBA01017067;AC002400;AC008870;AF087660;AK311877;AMYH02031702;AMYH02031703;BC058920;BI603093;CH471145;EF036489;EF036490;NM_005003 AAC05814;AAD23566;AAH58920;ABO65075;ABO65076;BAG34818;EAW55815;EAW55816;NP_004994;O14561 Hs.189716 1690274;1690724;1849232;2140962;2140964;2159885 A005L06;G20300;RH64954;RH93191;SGC33525;SHGC-32823 ACP;FASN2A;MGC65095;SDAP CI-SDAP;NADH-ubiquinone oxidoreductase 9.6 kDa subunit;NADH:ubiquinone oxidoreductase SDAP subunit;OTTHUMP00000122463;acyl carrier protein, mitochondrial;complex I SDAP subunit;mitochondrial acyl carrier protein protein-coding ENSG00000004779 HGNC:7694 11951 603836 VALIDATED 1320359 NDUFA6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa INVOLVED IN response to oxidative stress; PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrial membrane; mitochondrial respiratory chain complex I; INTERACTS WITH atrazine; hydralazine; rotenone 22 22 22 q13.2 26287732 26293090 - 42481530 42486888 - 42085526 42090884 - 1580863;1300048;6480464;6907045;8554872 10591208;10830953;12477932;12611891;12857734;15461802;15489334;16169070;17209039;17601350;18976975;18977241;19343046;20819778;20877624;21139048;21890473;21906983;24250222;9345899;9425316;9763676;9878551 4700 P56556;R4GN43 ABBA01055661;AF047182;AK291874;AK316562;AL021878;AMYH02038454;AMYH02038455;BC002772;CH471095;CR456529;CR456714;CR541997;NM_002490 AAC04267;AAH02772;ABM83892;ABM87213;BAF84563;BAG38151;CAG30415;CAG32995;CAG46794;CAK54560;CAK54859;EAW60489;NP_002481;P56556 Hs.274416 1665522;1681153;1700664;2129527;2147157 A008Y37;RH103955;RH75430;RH78147;WI-20966 B14;CI-B14;LYRM6;NADHB14 Complex I-B14;LYR motif-containing protein 6;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6;NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 6;NADH-ubiquinone oxidoreductase B14 subunit;OTTHUMP00000199679;complex I B14 subunit protein-coding ENSG00000184983 HGNC:7690 11884 602138 VALIDATED 1604552 NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008] 5 5 5 q12.1 57182020 57389876 + 60240956 60448864 + 60945129 61153037 + 6480464;7240710;8554872;8699517 12477932;15489334;15774466;16200211;17383918;18854154;19064571;19384974;20301352;20301382;20301403;20308990;20379614;20571988;20877624;21890473;22939629;23000965 91942 D6RA56;H0YA50;Q8N183 AB183433;ABBA01015806;ABBA01015807;ABBA01015808;ABBA01015809;ABBA01015810;ABBA01015811;ABBA01015812;ABBA01015813;AC008498;AC022445;AF087990;AI352161;AK026051;AK291296;AMYH02011375;AMYH02011376;AMYH02011377;BC001753;BC033965;BC070357;CH471123;NG_008978;NM_174889 AAH01753;AAH33965;ADZ16005;BAD91205;BAF83985;EAW55008;NP_777549;Q8N183 Hs.591757 1679614;1776516;1792880 L28196;PMC166200P3;RH41106 B17.2-like;B17.2L;FLJ22398;MMTN;NDUFA12L Myc-induced mitochondrial protein;NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2;NDUFA12-like protein;OTTHUMP00000161882;OTTHUMP00000221703;mimitin;mimitin, mitochondrial APPROVED protein-coding ENSG00000164182 HGNC:28086 14288 252010;256000;609653 REVIEWED 1314685 NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011] 15 15 15 q11.2-q21.3 18447525 18462613 - 41679547 41694658 - 41387349 41402554 - 1580863;6480464;7240710;8554872;8699517 10810093;11329013;11935339;12477932;15489334;16189514;16218961;17344420;17353931;17383918;17557076;18029348;19834535;20552642;20877624;21931170;23128233;9769214 51103 H0YL22;H0YNB7;H0YNN4;Q9Y375 ABBA01038409;ABBA01038410;AC087721;AF151823;AI911511;AK309889;AK310983;AMYH02030268;AMYH02030269;AMYH02030270;BC000780;BG192055;CH471125;NG_031924;NM_016013;NR_045620;XM_006720555;XM_006720556;XM_006720557;XM_006720558 AAD34060;AAH00780;EAW92487;EAW92488;EAW92489;NP_057097;Q9Y375;XP_006720618;XP_006720619;XP_006720620;XP_006720621 Hs.106529 1689366;1721989;2140669 G59880;RH65372;RH78362 CGI-65;CGI65;CIA30 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1;NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1;OTTHUMP00000160860;complex I intermediate-associated protein 30, mitochondrial APPROVED protein-coding ENSG00000137806 HGNC:18828 09500 252010;606934 REVIEWED 1601767 NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009] 3 3 3 p21.31 49014631 49017650 + 49057908 49060928 + 49020475 49023495 + 6480464;7240710;8554872;8699517 11256614;12477932;12653254;15231747;15489334;18624398;18854154;19463981;20186120;20877624;21139048;21150319;22939629;23443559;8889548;9349717 25915 A4FU71;Q9BU61;Q9Y3Z0 AA907148;ABBA01024618;AC137630;AL049955;AMYH02006735;BC002873;BC111004;BM354128;BM559881;BM985326;BQ652614;CD358942;CH471055;NG_016282;NG_033126;NM_199069;NM_199070;NM_199073;NM_199074 AAH02873;AAI11005;CAB43224;EAW64942;EAW64943;EAW64944;EAW64945;NP_951032;NP_951033;NP_951047;NP_951056;Q9BU61 Hs.31387 2177968 SHGC-76932 2P1;C3orf60;DKFZp564J0123;E3-3;MGC10527 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3;OTTHUMP00000210565;OTTHUMP00000210566;OTTHUMP00000210567;OTTHUMP00000210568;nuclear protein E3-3 APPROVED protein-coding HGNC:29918 16809 252010;612911 REVIEWED 1343021 NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009] 6 6 6 q16.1 97979234 97987815 - 97337187 97345767 - 96889311 96897891 - 6480464;7240710;8554872;8699517 11042152;12477932;14574404;14871833;15342556;15489334;16344560;17001319;17909269;18029348;18179882;19352385;19463981;20877624;21890473;21906983;21963094;22939629;23670274;24250222;24816145 29078 Q9P032 ABBA01014522;AF060508;AF161474;AK026245;AK311850;AL159985;AMYH02014162;BC018802;BC039464;BP258367;CH471051;DA129473;DB253189;NG_013379;NM_014165 AAF29089;AAG43126;AAH39464;ADR82677;BAG34792;EAW48501;NP_054884;Q9P032 Hs.512144 1667983;1678237;2147077;5112177 RH102131;RH26154;SHGC-52655;STS-R50676 C6orf66;HRPAP20;HSPC125;My013;bA22L21.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4;OTTHUMP00000016882;hormone-regulated proliferation-associated protein of 20 kDa;hormone-regulated proliferation-associated protein, 20 kDa APPROVED protein-coding ENSG00000123545 HGNC:21034 10795 252010;611776 REVIEWED 6770085 NDUFAF4P1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 1 15 15 15 26342071 26344398 + 49448495 49450822 + 49156298 49158625 + 16344560 100306975 ABBA01039130;AC013452;AMYH02030392;BF680393;DB321794;NR_036507 Hs.692164 pseudo HGNC:44194 VALIDATED 7174905 NDUFAF4P3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 3 3 3 3 37765790 37766314 - 37831412 37831936 - 37789921 37790445 - 100422532 ABBA01024842;AC093415;AMYH02006561;NG_025565 pseudo HGNC:44542 INFERRED 7174913 NDUFAF4P2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 2 7 7 7 q21.3 88172402 88172925 + 93474101 93474624 + 93844789 93845312 + 402676 ABBA01045787;AC002076;AMYH02016285;CH236949;NG_008702 pseudo HGNC:44541 INFERRED 7174752 NDUFAF4P4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 4 1 1 1 q25.1 147928182 147928680 - 174818811 174819306 - 174849673 174850168 - 100128889 ABBA01027875;AL161671;AMYH02002174;NG_030201 2148036 AL009530 pseudo HGNC:44543 INFERRED 1603963 NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 20 20 20 p12.1 13835718 13869123 + 13765672 13799067 + 13785026 13818421 + 6480464;7240710;8554872;8699517 12477932;14702039;16344560;16712791;17207965;18940309;19542079;20379614;21607760;21890473;24816145 79133 B3KR61;Q5TEU4 AA252680;AA789132;ABBA01053974;AK025977;AK091060;AK289781;AL109657;AL161659;AMYH02036724;BC005984;BC073158;BM993545;CB156360;CH471133;DA289766;NG_015811;NM_001039375;NM_024120;NR_029377;XM_006723620;XM_006723621;XM_006723622;XM_006723623;XM_006723624;XR_430269 AAH05984;AAH73158;ADQ32043;BAB15305;BAF82470;BAG52273;EAX10311;NP_001034464;NP_077025;Q5TEU4;XP_006723683;XP_006723684;XP_006723685;XP_006723686;XP_006723687 Hs.472165 2133003;2179824 RH45884;SGC38153 C20orf7;FLJ22324;MGC90272;bA526K24.2;dJ842G6.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5;OTTHUMP00000030304;OTTHUMP00000030305;OTTHUMP00000162656;probable methyltransferase C20orf7, mitochondrial APPROVED protein-coding HGNC:15899 12780 252010;612360 REVIEWED 1603903 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011] 8 8 8 q22.1 92222445 92256164 + 96037209 96115685 + 95024981 95058716 + 6480464;7240710;8699517;8554872 12477932;15342556;16341674;16344560;18614015;19463981;20301352;20301382;20301403;20552642;20877624;22019594;23509070;24162737;24654937;24816145 137682 B4DW83;E5RFN5;E5RGD6;E5RHX9;H0YB05;H0YB46;H0YBQ9;H0YBT9;H0YC61;H7C250;Q330K2 AA489642;AA625387;ABBA01037472;ABBA01037473;AC068189;AK298631;AK301414;AMYH02018442;AMYH02018443;AY444560;BC028166;BF030925;BM755491;BP275471;BQ447469;CH471060;DA897677;NG_016647;NM_152416;XM_005250789;XM_005250790;XM_005250791;XM_005250792;XM_005250793;XR_428375 AAH28166;AAS68536;ABM82567;ABM85756;BAG60807;BAG62945;EAW91733;EAW91734;EAW91735;EAW91736;EAW91737;EAW91738;NP_689629;Q330K2;XP_005250846;XP_005250847;XP_005250848;XP_005250849;XP_005250850 Hs.729144 1676668 RH99063 C8orf38;MGC40214 OTTHUMP00000196526;OTTHUMP00000196528;OTTHUMP00000196529;UPF0551 protein C8orf38, mitochondrial;phytoene synthase-like;putative phytoene synthase APPROVED protein-coding ENSG00000156170 HGNC:28625 17553 256000;612392 REVIEWED 1602217 NDUFAF7 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 ENCODES a protein that exhibits enzyme binding; INVOLVED IN mitochondrial respiratory chain complex I assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; mitochondrion; INTERACTS WITH formaldehyde; hydrogen peroxide; cadmium dichloride (ortholog) 2 2 2 p22.2 37299729 37317266 + 37458774 37476303 + 37231631 37249160 + 6480464;8554872 12477932;20360068;20406883;20877624;21832049;21890473;22857522;24089531;24292274 55471 B4DQY3;B4E0W7;C9J236;C9JEL7;C9JP36;C9JS27;H7C3N5;Q7L592 ABBA01074978;AC007390;AK294240;AK299015;AK302150;AK303555;AMYH02003615;BC004548;BC012374;BC035265;BC065206;BI334629;BM172474;BX538031;CH471053;NM_001083946;NM_144736;XM_005264410;XM_005264411 AAH04548;AAH12374;AAY14816;BAG57536;BAG61095;BAG63521;BAG64579;CAD97976;EAX00400;EAX00401;EAX00402;NP_001077415;NP_653337;Q7L592;XP_005264467;XP_005264468 Hs.433466 5024756 RH80030 C2orf56;MidA;PRO1853 NADH dehydrogenase [ubiquinone] complex I, assembly factor 7;OTTHUMP00000158583;OTTHUMP00000201359;OTTHUMP00000201362;mitochondrial dysfunction protein A homolog;protein midA homolog, mitochondrial APPROVED protein-coding ENSG00000003509 HGNC:28816 15180 615898 VALIDATED 2289754 NDUFB11P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, pseudogene 1 11 11 11 q14.3 89373659 89374234 - 92069104 92069679 - 92335938 92336513 - 390239 ABBA01040057;AMYH02025348;AP000722;NG_009688 NDUFB11P APPROVED pseudo HGNC:33980 INFERRED 1321883 NDUFB10 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa INVOLVED IN cellular metabolic process (inferred); respiratory electron transport chain (inferred); small molecule metabolic process (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; FOUND IN extracellular vesicular exosome; mitochondrial respiratory chain complex I; INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 16 16 16 p13.3 2221698 2224158 + 2009517 2011976 + 1959516 1961975 + 1580863;1300048;6480464;6907045 11042152;11157797;12477932;12611891;14557246;15231747;15342556;15489334;16537434;17500595;17601350;18977241;20877624;21139048;21890473;21906983;21963094;21987572;22190034;22321370;22505724;22939629;22990118;24250222;24816145;9763677;9878551 4716 A8K761;H3BPJ9;H3BV16;O96000 ABBA01030285;AC005363;AE006640;AF044954;AF067169;AF088991;AF088995;AK291876;AK311744;AMYH02031241;BC005829;BC007509;BP319067;CH471112;NM_004548 AAD05419;AAD08677;AAD16091;AAD32453;AAH05829;AAH07509;AAK61302;BAF84565;BAG34687;EAW85597;EAW85598;NP_004539;O96000 Hs.513266 PDSW CI-PDSW;NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10;NADH ubiquinone oxidoreductase PDSW subunit (RH 16p13.3);NADH-ubiquinone oxidoreductase PDSW subunit;OTTHUMP00000158897;complex I PDSW subunit;complex I-PDSW protein-coding ENSG00000140990 HGNC:7696 11958 603843 VALIDATED 1347474 NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa NDUFB11 is a component of mitochondrial complex I. Complex I catalyzes the first step in the electron transport chain, the transfer of 2 electrons from NADH to ubiquinone, coupled to the translocation of 4 protons across the membrane (Carroll et al., 2002 [PubMed 12381726]).[supplied by OMIM, Feb 2009] X X X p11.23 51196935 51199928 - 47001615 47004609 - 47142216 47145210 - 1580863;6480464;6907045 10544803;12381726;12477932;12611891;12975309;14702039;15489334;15772651;17292333;18029348;21139048;21890473;21900206;21906983;22939629;23246602;8889548 54539 Q7Z4X2;Q9NX14 AA287166;ABBA01052306;AF044213;AF134476;AF251063;AK000501;AL513366;AMYH02039269;AMYH02039270;AY359056;BC010665;BC107805;BU682304;CH471164;CR457239;CS488904;NG_012548;NM_001135998;NM_019056 AAH10665;AAI07806;AAK34953;AAL32064;AAP97253;AAQ89415;BAA91208;CAG33520;CAM55978;EAW59281;EAW59282;NP_001129470;NP_061929;Q9NX14 Hs.521969 2158362 RH12608 CI-ESSS;ESSS;FLJ20494;MGC111182;NP17.3;Np15;P17.3 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial;NADH-ubiquinone oxidoreductase ESSS subunit;OTTHUMP00000023193;OTTHUMP00000023194;complex I NP17.3 subunit;complex I-ESSS;neuronal protein 17.3 APPROVED protein-coding ENSG00000147123 HGNC:20372 02323 300403 VALIDATED 735249 NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014] 7 7 7 q31.33 117984821 118001712 - 123181083 123197958 - 123541029 123557904 - 737635;1580863;1300048;2302319;6480464;6907045;8554872 8875451;9021153 10330338;10343126;12477932;12611891;12853948;14702039;15489334;16189514;16329995;17314511;19064571;19343046;19615732;19738201;19850743;20376309;20379614;20825370;20877624;21139048;21145461;21775499;21832049;22939629;23051583;23088660;23798571;24583282;24717771;9048877;9763677;9847074;9878551 4698 C9IZN5;F8WAS3;H7BYD0;Q16718 ABBA01057733;AC006333;AC073323;AF044418;AK022209;AK315458;AMYH02016680;AV713284;BC000813;BC020821;BC070236;BC070237;BF670375;BF671339;BF790429;BG400546;BG611486;BT006695;CH236947;CH471070;CR933664;NM_001282419;NM_001282420;NM_001282421;NM_001282422;NM_001291304;NM_005000;NR_104168;NR_104169;NR_111925;NR_111926;U53468;U64028;W44870;XM_005250371;XR_426239;XR_428243;XR_432226 AAB02224;AAB37259;AAD21526;AAH00813;AAH20821;AAH70236;AAH70237;AAP35341;AAQ96854;BAB13985;BAG37845;CAI45962;EAW83587;EAW83588;EAW83589;EAW83590;EAW83591;EAW83592;EAW83593;NP_001269348;NP_001269349;NP_001269350;NP_001269351;NP_001278233;NP_004991;Q16718;XP_005250428 Hs.651219 1677310 Bda54h11 B13;CI-13KD-B;CI-13kB;DKFZp781K1356;FLJ12147;NUFM;UQOR13 Complex I-13KD-B;NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5;NADH-ubiquinone oxidoreductase 13 kDa-B subunit;OTTHUMP00000212002;OTTHUMP00000212003;OTTHUMP00000212004;OTTHUMP00000212005;complex I 13kDa subunit B;complex I subunit B13;nadh dehydrogenase (ubiquinone) 1 alpha subcomplex 5;type I dehydrogenase;ubiquinone reductase APPROVED protein-coding ENSG00000128609 HGNC:7688 03398 601677 REVIEWED 6769226 NDUFB2-AS1 NDUFB2 antisense RNA 1 7 7 7 q34 135117185 135118927 - 140395136 140396877 - 140695336 140697077 - 100134713 ABBA01034085;AC006344;AK129584;AMYH02016909;CH236950;NR_024454 Hs.534141 1652244;2135183;5022578 D1S1423;D4S3183;D7S2105E APPROVED ncrna ENSG00000240889 HGNC:40396 VALIDATED 1317724 NDUFB2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008] 7 7 7 q34 135118531 135128501 + 140396481 140406446 + 140696681 140706646 + 1580863;1300048;6480464;6907045 11042152;12477932;12611891;12690205;14718445;15489334;19064571;20877624;21988832;9763677;9847074;9878551 4708 A4D1T5;C9IZW8;C9IZZ2;C9JRV4;C9JXM4;F8WCJ6;H7C5B8;O95178;Q9Y6T4 ABBA01034085;ABBA01034086;AC006344;AF050639;AF067166;AMYH02016909;BC001168;BC063026;CH236950;CH471070;CR542121;NM_004546 AAD05428;AAD32450;AAD43191;AAH63026;CAG46918;EAL24024;EAW83958;EAW83959;EAW83960;EAW83961;EAW83962;NP_004537;O95178 Hs.655788 1652244;1681177;2135183 D4S3183;D7S2105E;RH78683 AGGG;CI-AGGG;MGC70788 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial;NADH-ubiquinone oxidoreductase AGGG subunit;OTTHUMP00000212131;OTTHUMP00000212135;OTTHUMP00000212136;complex I AGGG subunit;complex I-AGGG APPROVED protein-coding ENSG00000090266 HGNC:7697 11953 603838 REVIEWED 1345244 NDUFB3P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 1 1 1 1 p13.3 107904468 107905041 - 109635089 109635662 - 109092467 109093040 - 11474204 93993 ABBA01068371;AL356488;AMYH02001704;NG_000954 pseudo HGNC:13673 INFERRED 1321815 NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012] 2 2 2 q31.3 195691087 195705098 + 201936462 201950473 + 201071739 201085750 + 1580863;1300048;6480464;6907045;7240710;8554872;8699517 11161814;11474204;12477932;12611891;15489334;16169070;16341674;19773279;20877624;21139048;21832049;22277967;24654937;9425316;9878551 4709 C9JKQ2;O43676 ABBA01062530;ABBA01062531;AC007272;AF035839;AF047183;AMYH02005545;BC018183;BM848639;BU188560;CH471063;CR456924;NG_032156;NM_001257102;NM_002491;XM_006712544 AAC04268;AAC15590;AAH18183;AAX88972;ABM82357;ABM85532;CAG33205;EAW70233;EAW70234;NP_001244031;NP_002482;O43676;XP_006712607 Hs.109760 B12;CI-B12 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3;NADH-ubiquinone oxidoreductase B12 subunit;OTTHUMP00000163716;OTTHUMP00000206487;OTTHUMP00000206488;OTTHUMP00000206489;complex I B12 subunit;complex I-B12 APPROVED protein-coding ENSG00000119013 HGNC:7698 11954 252010;603839 REVIEWED 1347557 NDUFB3P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 2 9 9 9 q33.3 98588727 98589030 - 127940793 127941096 - 125178514 125178817 - 11474204 93994 ABBA01043776;AC009195;AL445930;AMYH02021645;NG_000955 pseudo HGNC:13674 INFERRED 1342871 NDUFB3P4 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 4 14 14 14 80887560 80888015 + 100832925 100833380 + 100366588 100367043 + 11474204 93995 ABBA01048530;AL135838;AL157871;AMYH02029854;NG_000956;NG_029914 1700072 RH103649 pseudo HGNC:13676 INFERRED 2301484 NDUFB1P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene 1 3 3 3 p21.31 48171957 48172277 + 48222961 48223281 + 48181471 48181791 + 100190952 ABBA01024656;AC104190;AC124916;AMYH02006712;NG_008709 NDUFB1P;bcm3095 APPROVED pseudo HGNC:30893 INFERRED 3516303 NDUFB1P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene 2 1 1 1 q41 196338158 196338333 + 223119067 223119242 + 222945725 222945900 + 100380272 ABBA01048045;AC093152;AMYH02002751;NG_009243;NG_016728 pseudo HGNC:37815 INFERRED 7241955 NDUFB4P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene 1 3 3 3 p14.1 67504478 67504861 + 67564301 67564801 + 67513877 67514377 + 100288654 ABBA01030880;AC112213;AMYH02006994;NG_030111 pseudo HGNC:45248 INFERRED 7241991 NDUFB4P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene 2 5 5 5 q11.2 55764955 55765474 + 58824618 58825137 + 59528792 59529311 + 100132036 ABBA01015796;AC008804;AMYH02011360;NG_012967;NG_027957 pseudo HGNC:45250 INFERRED 1350721 NDUFB1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa INVOLVED IN cellular metabolic process (inferred); respiratory electron transport chain (inferred); small molecule metabolic process (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; FOUND IN extracellular vesicular exosome; mitochondrial respiratory chain complex I; INTERACTS WITH atrazine; cobalt dichloride; copper(2+) sulfate 14 14 14 q32.12 72635062 72640748 - 92582467 92588153 - 92116123 92121809 - 1580863;6480464;6907045 11042152;12477932;12611891;15489334;16189514;21832049;22190034;9425316;9653160;9763677;9878551 4707 O75438 ABBA01030457;ABBA01030458;AF050638;AK316557;AL121773;AMYH02029759;BC009691;BC104672;BC126232;BC126234;BM052981;BX476462;CH471061;NM_004545 AAD42054;AAH09691;AAI04673;AAI26233;AAI26235;ADR82802;BAG48175;EAW81476;EAW81477;EAW81478;EAW81479;NP_004536;O75438 Hs.183435 2144158 G36104 CI-MNLL;CI-SGDH;MNLL NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1;NADH-ubiquinone oxidoreductase MNLL subunit;OTTHUMP00000245341;complex I MNLL subunit;complex I-MNLL protein-coding ENSG00000183648 HGNC:7695 11952 603837 VALIDATED 1322768 NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011] 9 9 9 p21.1 32484729 32504395 - 32553524 32573182 - 32553526 32573184 - 1580863;1300048;6480464;6907045 10330338;11042152;11329013;11349233;12477932;12611891;14702039;15164053;15342556;15489334;16712791;17209039;17948130;18029348;18485875;18614564;19064571;19265027;20877624;21139048;21832049;21890473;21964293;22262461;22505724;22610502;22939629;23000965;7236204;9760212;9763677;9878551 4712 O95139 ABBA01065079;AF035840;AF067167;AK092649;AK289702;AL353671;AMYH02019410;AW160372;BC009801;BC016708;BC029247;BG220924;BI669356;BP208846;BU952486;CB140469;CH471071;CR456920;NG_011511;NM_001199987;NM_002493;NM_182739 AAC68838;AAD32451;AAH09801;AAH29247;BAF82391;CAG33201;EAW58541;EAW58542;EAW58543;NP_001186916;NP_002484;NP_877416;O95139 Hs.493668 1682363;2166815;2173864 G30177;RH81057;STS-H04756 B17;CI;CI-B17;MGC13675 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6;NADH-ubiquinone oxidoreductase B17 subunit;NADH-ubiquinone oxidoreductase beta subunit, 6;OTTHUMP00000021179;OTTHUMP00000021180;complex I, mitochondrial respiratory chain, B17 subunit;complex I-B17 APPROVED protein-coding ENSG00000165264 HGNC:7701 04504 603322 REVIEWED 1318388 NDUFB7 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14568834 14574833 - 14676890 14682889 - 14566078 14572077 - 1580863;1300048;6480464;6907045 10330338;10830904;10931946;12358155;12477932;12611891;15489334;16712791;17601350;18187620;18977241;19343046;20877624;21139048;21310150;21906983;21988832;22939629;2302251;24816145;9763677;9878551 4713 M0R3B8;P17568 ABBA01029659;ABBA01029660;AC010527;AF112200;AF217091;AMYH02035625;AMYH02035626;BC002595;BU565399;CB124371;CH471106;CR450354;M33374;NM_004146;Y15998 AAA35675;AAF17188;AAF91223;AAH02595;ABM82825;ABM86011;CAG29350;EAW84436;NP_004137;P17568 Hs.532853 5016885 RH98824 B18;CI-B18;MGC2480 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7;NADH-ubiquinone oxidoreductase B18 subunit;cell adhesion protein SQM1;complex I B18 subunit;complex I-B18 APPROVED protein-coding ENSG00000099795 HGNC:7702 11957 603842 REVIEWED 1316046 NDUFB4 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009] 3 3 3 q13.33 118724522 118730652 + 120315128 120321258 + 120596281 120602411 + 1580863;1300048;6480464;6907045 12477932;12611891;12857734;15489334;16806233;17342744;20877624;21139048;21890473;21906983;22354994;22939629;24250222;24816145;9653160;9878551 4710 C9JXQ9;F2Z3P9;O95168 ABBA01016493;AC009289;AC126182;AF044957;AMYH02007519;BC000855;BC034579;BC070285;BC146885;BC146887;BC146927;BC146932;BF212059;BF978138;CB215975;CH471052;NM_001168331;NM_004547 AAD05421;AAH00855;AAH70285;AAI46886;AAI46888;AAI46928;AAI46933;ABM82022;ABM85199;ABM85204;EAW79525;NP_001161803;NP_004538;O95168 Hs.304613 1734258;2118887;2148823;2171071;2171812 A004I45;D3S2749E;RH66724;SHGC-32031;SHGC-77248 B15;CI-B15;MGC5105 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4;NADH-ubiquinone oxidoreductase B15 subunit;OTTHUMP00000215355;OTTHUMP00000215356;complex I B15 subunit;complex I-B15 APPROVED protein-coding ENSG00000065518 HGNC:7699 11955 603840 REVIEWED 1606190 NDUFB3P5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 5 X X X 140608010 140608470 - 140474941 140475401 + 141380777 141381237 + 11474204;12477932 93997 ABBA01023076;AC234779;AL050308;AMYH02040642;NG_000958 pseudo HGNC:13677 INFERRED 1350421 NDUFB3P3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 3 14 14 14 q22.1 33528380 33528849 + 53478647 53479116 + 53011929 53012398 + 11474204 93996 ABBA01018180;AL352979;AMYH02029204;NG_000957 pseudo HGNC:13675 INFERRED 1319298 NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa ENCODES a protein that exhibits NADH dehydrogenase (ubiquinone) activity (inferred); INVOLVED IN cellular metabolic process (inferred); oxidation-reduction process (inferred); respiratory electron transport chain (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; FOUND IN endoplasmic reticulum; mitochondrial respiratory chain complex I; INTERACTS WITH arsane; arsenic atom; atrazine 10 10 10 q24.31 96021344 96027467 - 102283497 102289640 - 100523729 100529923 - 1580863;1300048;6480464;6907045 10570959;11042152;11230166;11256614;12477932;12611891;15164054;15489334;16169070;16344560;16806233;17601350;17727244;18029348;18977241;19064571;21078624;21139048;21890473;21906983;21988832;22252130;22939629;23362303;24816145;8889548;9345899;9763676;9878551 4714 E9PIZ8;O95169 AA782554;ABBA01063225;AF044958;AF077028;AF115968;AI282606;AK289579;AL080056;AL133352;AMYH02023658;BC000466;BC019276;BM008944;BM686677;CF127298;CH471066;CR533490;DA428446;NM_001284367;NM_001284368;NM_005004;Y18944 AAD05422;AAD27761;AAH00466;AAH19276;AAP97239;ABM84212;ABM87617;ACE86557;ACE87239;BAF82268;CAB45691;CAB46274;CAG38521;EAW49819;EAW49820;NP_001271296;NP_001271297;NP_004995;O95169 Hs.523215 2116779 SHGC-30060 ASHI;CI-ASHI NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial;NADH-ubiquinone oxidoreductase ASHI subunit;NADH:ubiquinone oxidoreductase ASHI subunit;OTTHUMP00000020833;OTTHUMP00000020835;OTTHUMP00000020836;complex I ASHI subunit;complex I-ASHI protein-coding ENSG00000166136 HGNC:7703 11886 602140 VALIDATED 1343797 NDUFB8P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 1 14 14 14 q24.3 54134238 54134903 + 74098160 74098825 + 73631456 73632121 + 9847074 326606 ABBA01030750;AC005225;AC245368;NG_002595 2132175 G38169 pseudo HGNC:20023 INFERRED 2289736 NDUFB8P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 2 17 17 17 q23.1 54425857 54426516 + 57962351 57963010 + 59884990 59885649 + 23251661 729565 ABBA01003180;AC004686;AC245929;NG_007663 2116779 SHGC-30060 pseudo HGNC:33978 INFERRED 2293159 NDUFB8P3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 3 11 11 11 p13 34842911 34879213 + 34695770 34731811 + 34674223 34710264 + 100132286 ABBA01060863;ABBA01060864;AC087783;AMYH02024587;AMYH02024588;AMYH02024589;NG_007868 2174931 AFM205YG5 pseudo HGNC:33979 INFERRED 1353150 NDUFC1 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 4 4 4 q31.1 137543240 137555875 - 140211071 140223705 - 139289917 139302551 - 1580863;6480464;6907045 11042152;12477932;14702039;15146197;15489334;16341674;16712791;18029348;8889548;9425316;9653160;9763677;9878551 4717 O43677;Q6IAZ9 ABBA01069954;AC024032;AC097376;AF047184;AF047435;AK023115;AK291147;AMYH02010197;BC101798;BC107682;BC112061;BG701467;BM768825;BU677336;CA313899;CB047240;CB160001;CH471056;CN347371;CR457005;CX163301;NM_001184986;NM_001184987;NM_001184988;NM_001184989;NM_001184990;NM_001184991;NM_002494;W56292;Y16002 AAC04269;AAC39886;AAI01799;AAI07683;AAI12062;AAY40949;BAF83836;CAG33286;EAX05121;NP_001171915;NP_001171916;NP_001171917;NP_001171918;NP_001171919;NP_001171920;NP_002485;O43677 Hs.84549 2152198 SHGC-67742 KFYI;MGC117464;MGC126847;MGC138266 CI-KFYI;NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial;NADH-ubiquinone oxidoreductase KFYI subunit;OTTHUMP00000164544;OTTHUMP00000164545;OTTHUMP00000220054;OTTHUMP00000220055;complex I KFYI subunit;complex I-KFYI APPROVED protein-coding ENSG00000109390 HGNC:7705 11959 603844 REVIEWED 1314222 NDUFB5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 3 3 3 q26.33 177753453 177773165 + 179322575 179342288 + 179604787 179624500 + 1580863;1300048;6480464;6907045;8554872 12477932;12611891;14702039;15489334;16344560;17207965;17601350;18029348;18977241;19034380;19064571;19343046;20877624;21139048;22939629;24816145;9425316;9878551 4711 E7EWP0;F8WDD2;F8WDZ2;H0Y886;H7C568;H7C5C1;O43674 ABBA01058530;AC090425;AF047181;AK055159;AK313822;AMYH02008230;AW955118;BC005271;BC009796;BC017909;BC093071;BG776403;BX648034;CD364869;CH471052;DA112751;NM_001199957;NM_001199958;NM_002492 AAC04266;AAH05271;AAH09796;AAH17909;AAH93071;ADQ33155;BAB70865;BAG36557;EAW78385;EAW78386;EAW78387;EAW78388;EAW78389;EAW78390;EAW78391;EAW78392;EAW78393;NP_001186886;NP_001186887;NP_002483;O43674 Hs.730674 1735164;2138874;5037552;5118444 D11S3316;D3S2816E;D8S2279;SHGC-77568 CI-SGDH;CISGDH;DKFZp686N02262;FLJ30597;MGC111204;MGC12314;SGDH NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial;NADH-ubiquinone oxidoreductase SGDH subunit;OTTHUMP00000212214;OTTHUMP00000212215;OTTHUMP00000212257;OTTHUMP00000212259;complex I SGDH subunit;complex I-SGDH APPROVED protein-coding ENSG00000136521 HGNC:7700 11956 603841 REVIEWED 5508033 NDUFC2-KCTD14 NDUFC2-KCTD14 readthrough This locus represents naturally occurring read-through transcription between the neighboring NDUFC2 (NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa) and KCTD14 (potassium channel tetramerisation domain containing 14) genes on chromosome 11. The read-through transcripts share sequence identity with the upstream gene product and one variant has a frameshifted C-terminal region derived from the downstream gene exons. [provided by RefSeq, Feb 2011] 11 11 q14.1 77726761 77791265 - 78015715 78080219 - 6480464;8554872 20967262 100532726 E9PQ53;E9PRQ4 ABBA01017414;ABBA01017415;ABBA01017416;AMYH02025145;AP003032;BG723290;FY211285;FY212410;FY212967;FY213449;KF455421;NM_001203260;NM_001203261;NM_001203262 E9PQ53;NP_001190189;NP_001190190;NP_001190191 Hs.407860;Hs.709780 1669525;1678615;1773874;1851362;2147479;2174895 RH45705;RH47260;RH80555;SHGC-32876;SHGC-53311;WI-20939 FLJ94527 NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2;NDUFC2-KCTD14 readthrough transcript protein;OTTHUMP00000233777;OTTHUMP00000246872 protein-coding ENSG00000151364 HGNC:42956 VALIDATED 1319736 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009] 11 11 11 p11.11 47743293 47748843 + 47600562 47606115 + 47579010 47584563 + 1580863;1300048;6480464;6484699;6907045;7240710;8554872;8699517 20876714 10931946;10967146;11112787;11771736;12477932;12611891;14729820;15250827;15489334;1602151;16196087;16344560;16826196;17209039;17314511;17500595;17601350;18485875;18976975;18977241;19034380;19343046;19463981;19688755;19738201;19822128;20186120;20301352;20301382;20301403;20877624;20935630;21139048;21145461;21867691;21890473;21906983;21988832;22623428;22939629;23446378;23455922;23630608;23798571;24028823;24244333;24816145;8125298;9647766;9763677;9878551 4722 B4DFM8;E9PJE7;E9PKL8;E9PS48;G3V194;O75489 AA477836;ABBA01060699;AC104942;AF067139;AF100743;AF200954;AK223255;AK294167;AK313802;AL135819;AMYH02024734;BC000617;CH471064;DA893277;NG_011946;NM_004551 AAC27451;AAD40386;AAG17541;AAH00617;ABM82860;ABM86047;BAD96975;BAG36538;BAG57489;CAB63881;EAW67895;EAW67896;EAW67897;NP_004542;O75489 Hs.502528 1336012;1779268;2191481;5022200;5022588;5022651 D11S2921;D11S4109;D5S1597E;L18426;MARC_23769-23770:1027452433:1;SHGC-153212 CI-30 CI-30kD;NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial;NADH dehydrogenase-ubiquinone 30 kDa subunit;NADH-ubiquinone oxidoreductase 30 kDa subunit;OTTHUMP00000234349;complex I 30kDa subunit;complex I-30kD APPROVED protein-coding ENSG00000213619 HGNC:7710 10355 252010;256000;603846 REVIEWED 6893024 NDUFS5P1 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 1 6 6 q23.3 136797009 136797288 - 136475871 136476150 - 100996944 ABBA01025826;AL023284;AMYH02014555;NG_033277 pseudo HGNC:44039 INFERRED 1316748 NDUFC2 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa ENCODES a protein that exhibits NADH dehydrogenase (ubiquinone) activity (inferred); INVOLVED IN cellular metabolic process (inferred); mitochondrial electron transport, NADH to ubiquinone (inferred); respiratory electron transport chain (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; FOUND IN cytoplasm; mitochondrial respiratory chain complex I; INTERACTS WITH copper(2+) sulfate; cyclosporin A; isotretinoin 11 11 11 q14.1 75087861 75099744 - 77779393 77791265 - 78068347 78080219 - 1580863;6480464;6907045 11042152;11076863;11230166;11256614;12045112;12477932;12611891;14702039;15489334;15489336;16381901;17601350;18029348;18977241;19064571;19322201;19834535;19913121;20628086;20877624;21139048;21509594;21890473;21906983;21963094;22505724;23000965;23028138;9878551 4718 E9PM14;E9PRJ5;O95298 ABBA01017414;AF070652;AF087659;AF087899;AF369951;AF369952;AK022785;AK023013;AK098173;AL050278;AMYH02025145;AP003032;BC007323;BE740715;BX281908;CA414824;CH471076;CR533448;KF455421;NM_001204054;NM_001204055;NM_004549 AAD09754;AAD20958;AAH07323;AAM21294;AAM21295;AAP97198;CAB43379;CAG38479;CAL37591;EAW75046;EAW75047;NP_001190983;NP_001190984;NP_004540;O95298 Hs.407860 1662742;1669525;1670166;1678403;1773874;1846785;1851362;2110595;2130732;2145248;2160650;2174895;5022651;5037552 D11S2232E;D11S2921;D11S4683;D8S2279;NDUFC2_8500;RH12275;RH45705;RH47260;RH68571;RH80571;SHGC-32876;SHGC-34949;SHGC-53311;WI-11845 B14.5b;CI-B14.5b;HLC-1;NADHDH2 NADH dehydrogenase [ubiquinone] 1 subunit C2;NADH-ubiquinone oxidoreductase subunit B14.5b;OTTHUMP00000233778;OTTHUMP00000233779;OTTHUMP00000233781;complex I subunit B14.5b;complex I-B14.5b;human lung cancer oncogene 1 protein protein-coding ENSG00000151366 HGNC:7706 11960 603845 VALIDATED 6484033 NDUFS5P2 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 2 1 1 1 p21.3 95304256 95304636 - 97049963 97050343 - 96584407 96584787 - 100286918 ABBA01045485;AL139347;AMYH02001528;NG_021376 pseudo HGNC:44040 INFERRED 6484036 NDUFS5P3 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 3 1 1 1 p32.3 51461513 51461991 + 53174753 53175229 + 52709081 52709557 + 100288149 ABBA01074765;AC099784;AMYH02001021;NG_021377 1736680 D17S1505E pseudo HGNC:44041 INFERRED 6483981 NDUFS5P4 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 4 4 4 4 q23 97195306 97195766 - 99897810 99898294 - 98976659 98977143 - 9847074 100287817 ABBA01063667;AC019131;AMYH02009795;NG_021378 pseudo HGNC:44042 INFERRED 1342584 NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), or NADH:ubiquinone oxidoreductase, the first multi-subunit enzyme complex of the mitochondrial respiratory chain. Complex I plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in living cells. It removes electrons from NADH and passes them by a series of different protein-coupled redox centers to the electron acceptor ubiquinone. In well-coupled mitochondria, the electron flux leads to ATP generation via the building of a proton gradient across the inner membrane. Complex I is composed of at least 41 subunits, of which 7 are encoded by the mitochondrial genome and the remainder by nuclear genes. [provided by RefSeq, Jul 2008] 5 5 5 q11.1 49810070 49932765 + 52856464 52979171 + 53560635 53683341 + 1580863;6480464;6484689;6484691;6484669;6484662;6484698;6907045;7240710;8554872;8699517 12616398;18396137;19107570;21383081;22535952 11112787;11165261;11181577;11860175;11940698;12084824;12206907;12477932;12611891;12944388;14765537;15038602;15489334;15975579;16094384;16478720;16870178;17207965;17438127;17601350;18029348;18291624;18555024;18977241;1900194;19064571;19343046;19364667;20301352;20301382;20301403;20877624;21139048;21832049;21945319;21988832;22198267;22407105;22939629;23378164;24244333;9463323;9763677;9878551 4724 D6R916;D6REP1;D6RI09;H0Y9M8;O43181 ABBA01015719;ABBA01015720;AC008901;AC024569;AF020351;AI001139;AK307973;AMYH02011296;BC005270;BU954271;CH471123;DB489661;NG_008200;NM_002495;XM_005248525 AAB87865;AAH05270;ADQ32498;EAW54884;NP_002486;O43181;XP_005248582 Hs.528222 1784926;1784928;1847045;2145452 D5S1732;SHGC-100364;SHGC-100842;STS-H45672 AQDQ;CI-18 CI-18 kDa;CI-AQDQ;NADH dehydrogenase (ubiquinone) iron-sulfur protein 4;NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial;NADH-coenzyme Q reductase, 18-KD;NADH-ubiquinone oxidoreductase 18 kDa subunit;OTTHUMP00000122466;OTTHUMP00000221839;complex I 18kDa subunit;complex I-18 kDa;complex I-AQDQ;mitochondrial respiratory chain complex I (18-KD subunit) APPROVED protein-coding ENSG00000164258 HGNC:7711 04073 252010;256000;602694 REVIEWED 6483980 NDUFS5P5 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 5 4 4 4 q26 116612701 116613171 - 119321551 119322023 - 118400396 118400868 - 9847074 100128177 ABBA01063876;AC096762;AMYH02009984;NG_021379 pseudo HGNC:44043 INFERRED 6484023 NDUFS5P7 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 7 17 17 17 q11.2 24207577 24208079 - 27348219 27348712 - 29021201 29021694 - 100130794 ABBA01015034;AC024619;AMYH02033233;NG_012737 1856169 SHGC-74636 pseudo HGNC:44045 INFERRED 732792 NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009] 5 5 5 p15.33 1838161 1852826 + 1801496 1816165 + 1801382 1816051 + 1580863;1300048;2302384;2302364;6480464;6907045;7240710;8554872;8699517 18559093 12477932;12611891;14702039;15146197;15372108;15489334;16169070;16341674;17438127;17601350;18976975;18977241;19034380;19064571;19343046;20877624;21139048;21900206;22939629;24250222;24654937;24816145;9647766;9763677;9878551 4726 D6RBT3;O75380;Q6IBC4 ABBA01034195;ABBA01034196;AC026443;AF044959;AK022503;AMYH02010770;BC038664;BC046155;BE900424;BG706812;BM172493;BM759028;BM764340;CH471102;CN285188;CR456880;NG_013354;NM_004553 AAC27799;AAH38664;AAH46155;ADR82670;BAG51079;CAG33161;EAX08142;EAX08143;NP_004544;O75380 Hs.408257 1740435;2120217 D5S2243E;RH41903 CI-13kA;CI-13kD-A;CI13KDA NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial;NADH-ubiquinone oxidoreductase 13 kDa-A subunit;NADH:ubiquinone oxidoreductase NDUFS6 subunit;OTTHUMP00000115430;OTTHUMP00000220491;complex I 13kDa subunit A;complex I, mitochondrial respiratory chain, 13-kD subunit;nadh dehydrogenase (ubiquinone) fe-s protein 6 APPROVED protein-coding HGNC:7713 10356 252010;603848 REVIEWED 1322348 NDUFS5 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010] 1 1 1 p34.2-p33 37772450 37780784 + 39491967 39500308 + 39026295 39034636 + 1298632;1580863;1300048;6480464;6907045 9653160 10070614;11042152;11112787;12477932;12611891;15489334;15607211;16826196;17500595;17601350;1906457;19064571;19426391;20877624;20972266;21310150;21890473;21906983;21963094;24816145;8125298;9763677;9878551 4725 O43920;Q6IBA0 ABBA01023224;ABBA01023225;ABBA01023226;AF020352;AF047434;AF086268;AI244607;AK312188;AL606465;AMYH02000825;BC001884;BC093057;CH471059;CR456904;NG_028193;NM_001184979;NM_004552 AAB87866;AAC39878;AAH01884;AAH93057;ADZ15664;BAG35121;CAG33185;EAX07286;EAX07287;NP_001171908;NP_004543;O43920 Hs.632385 1736680;1856169 D17S1505E;SHGC-74636 CI-15k;CI15K CI-15 kDa;NADH dehydrogenase [ubiquinone] iron-sulfur protein 5;NADH-ubiquinone oxidoreductase 15 kDa subunit;NADH:ubiquinone oxidoreductase 15 kDa IP subunit;OTTHUMP00000008670;OTTHUMP00000008671;complex I-15 kDa APPROVED protein-coding ENSG00000168653 HGNC:7712 11961 603847 REVIEWED 1319779 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010] 11 11 11 q13 65131755 65137785 + 67798084 67804114 + 68030617 68036647 + 1580863;1300048;6480464;6907045;7240710;8699517;8554872 11112787;11955626;12477932;12611891;12857734;14702039;14749350;15159508;15250827;15489334;17601350;18029348;18624398;18977241;19343046;20186120;20301352;20301382;20301403;20379614;20877624;21139048;21906983;22190034;22939629;24250222;24583282;8125298;9116042;9345899;9666055;9837812;9878551 4728 E9PJY7;E9PKH6;E9PML5;E9PN51;E9PPW7;F8W9K7;H0YCB2;H0YDT4;O00217;Q08E91 ABBA01024019;AF038406;AK002110;AK223114;AK302449;AK314546;AMYH02025001;AP002807;BC119753;BC119754;CH471076;DB498707;NG_017040;NM_002496;U65579;XM_005274013;XM_005274014;XM_005274015 AAB51776;AAC34273;AAI19754;AAI19755;BAD96834;BAG37133;BAG63745;EAW74685;EAW74686;EAW74687;EAW74688;NP_002487;O00217;XP_005274070;XP_005274071;XP_005274072 Hs.90443 2143246;2169870;5015861;5015961;5037552;7185938 D10S16;D15S1477;D8S2279;RH69713;STS-R17000 CI-23k;CI23KD;TYKY NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial;NADH-ubiquinone oxidoreductase 23 kDa subunit;OTTHUMP00000235720;OTTHUMP00000235729;complex I 23kDa subunit;complex I-23kD APPROVED protein-coding ENSG00000110717 HGNC:7715 03683 256000;602141 REVIEWED 1350455 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] 11 11 11 q13 64708784 64714474 + 67374323 67380012 + 67606852 67612541 + 1580863;6480464;6907045;7240710;8554872;8699517 10080174;10931946;11112787;11138011;11337467;11349233;12477932;12611891;14702039;1478657;15342556;15489334;16189514;17601350;17786189;18977241;19343046;20153825;20186120;20843780;20877624;20930427;21139048;21145461;21696386;21906983;21963094;22939629;23266820;23562761;23798571;8125298;8288251;9571201;9878551;9892733 4723 B4DE93;E5KNH5;E9PJL9;E9PLC6;E9PMX3;E9PPD6;E9PPE0;E9PPR0;E9PPS5;E9PQP1;G3V0I5;H0YD04;H0YE81;P49821 ABBA01024026;AF053069;AF053070;AF092131;AK055875;AK223061;AK293522;AK300726;AK310537;AK316122;AMYH02024997;AP003385;AU099299;BC007619;BC008146;BC015645;BP254989;CH471076;CR456739;DB532599;FB580533;HQ205266;HQ205267;HQ205268;HQ205269;HQ205270;HQ205271;HQ205272;HQ205273;HQ205274;HQ205275;HQ205276;HQ205277;HQ205278;HQ205279;HQ205280;HQ205281;HQ205282;HQ205283;HQ205284;HQ205285;HQ205286;HQ205287;HQ205288;HQ205289;HQ205290;HQ205291;HQ205292;HQ205293;HQ205294;HQ205295;HQ205296;HQ205297;HQ205298;HQ205299;HQ205300;HQ205301;HQ205302;HQ205303;HQ205304;HQ205305;NG_013353;NM_001166102;NM_007103;S67973;Y17379;Y17383 AAB29698;AAC39722;AAC39750;AAD40373;AAH07619;AAH08146;AAH15645;ABM84162;ABM87565;ADP90734;ADP90735;ADP90736;ADP90737;ADP90738;ADP90739;ADP90740;ADP90741;ADP90742;ADP90743;ADP90744;ADP90745;ADP90746;ADP90747;ADP90748;ADP90749;ADP90750;ADP90751;ADP90752;ADP90753;ADP90754;ADP90755;ADP90756;ADP90757;ADP90758;ADP90759;ADP90760;ADP90761;ADP90762;ADP90763;ADP90764;ADP90765;ADP90766;ADP90767;ADP90768;ADP90769;ADP90770;ADP90771;ADP90772;ADP90773;BAD96781;BAG57004;BAG62399;BAH14493;CAA76757;CAG33020;CAR98247;EAW74652;EAW74653;EAW74654;EAW74655;EAW74656;NP_001159574;NP_009034;P49821 Hs.7744 1774233;1775400;2135126;2154732 A002J17;D11S2245E;RH11768;STS-N93261 CI-51K;CI51KD;FLJ59059;UQOR1 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial;NADH-ubiquinone oxidoreductase 51 kDa subunit;OTTHUMP00000232178;OTTHUMP00000232181;OTTHUMP00000232183;OTTHUMP00000232187;complex I 51 kda subunit;complex I 51kDa subunit;complex I, mitochondrial respiratory chain;mitochondrial NADH dehydrogenase ubiquinone flavoprotein 1;mitochondrial NADH:ubiquinone oxidoreductase 51 kda subunit APPROVED protein-coding ENSG00000167792 HGNC:7716 01191 161015;252010 REVIEWED 734286 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009] 18 18 18 p11.22 8986907 9018629 + 9102628 9134343 + 9102630 9134345 + 1580863;1300048;2302386;6480464;6907045;7240710;8699517;8554872 9570948 12391372;12477932;12611891;12754703;12815743;15450783;15489334;16169070;16508936;16712791;16784756;17601350;17786189;18199248;18977241;19034380;19064571;19135101;19165527;19194776;19328558;19343046;19738201;19913121;20551160;20628086;20877624;20971673;20978456;21139048;21190551;21548921;22939629;24816145;2500970;7488192;7607668;9763677;9878551 4729 E7EPT4;J3KRB4;J3QS34;P19404 ABBA01049947;AF147367;AK291865;AK312129;AMYH02034285;AP005263;AP005899;AW051350;BC001632;BC017487;BC071689;BG742948;CB121843;CH471113;CR456928;D64176;D88548;M22538;NG_013355;NM_021074;X84421;XR_243808 AAA75390;AAH01632;AAH17487;AAH71689;ABM83519;ABM86739;BAA11028;BAA25988;BAF84554;BAG35065;CAG33209;EAX01612;NP_066552;P19404 Hs.464572 1682547;1687576;1762755;2119556;2169789;5123289 RH46470;RH70796;RH71433;RH91274;RH98860;SHGC-146539 CI-24k 24-kda subunit of mitochondrial nadh dehydrogenase;NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial;NADH dehydrogenase ubiquinone flavoprotein 2, mitochondrial;NADH-ubiquinone oxidoreductase 24 kDa subunit;NADH-ubiquinone oxidoreductase flavoprotein 2;OTTHUMP00000162347;OTTHUMP00000165822;complex I 24kDa subunit;complex I, mitochondrial respitory chain, 24 kD subunit;nuclear-encoded mitochondrial NADH-ubiquinone reductase 24Kd subunit APPROVED protein-coding ENSG00000178127 HGNC:7717 02757 252010;600532 REVIEWED 1350002 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 2 2 2 q33-q34 200745218 200781616 - 206987803 207024243 - 206123079 206159519 - 1556706;1580863;6480464;6484690;6484688;6907045;7240710;8554872;8699517 11349233;21196577;21518732 12477932;12611891;1505218;15186778;15489334;15815621;15824269;16196087;16478720;16870178;17314511;17500595;17601350;18977241;19064571;19343046;1935949;19405953;19615732;19738201;19836344;20186120;20382551;20843780;20877624;21080425;21139048;21145461;21183487;21203893;21252943;21540367;21906983;22268729;22360420;22586326;22939629;23455924;24457600;24583282;24816145;25027693;25036637;6439716;8889549;9878551 4719 B4DJ81;C9JPQ5;E5KRK5;F8WDL5;P28331 AA150435;ABBA01062649;ABBA01062650;AC007383;AK098395;AK295705;AK295966;AK295987;AK298320;AK300585;AMYH02005626;AW074155;BC004133;BC012068;BC018900;BC022368;BC030833;BQ882763;CA419316;CH471063;DC413278;HQ205706;HQ205707;HQ205708;HQ205709;HQ205710;HQ205711;HQ205712;HQ205713;HQ205714;HQ205715;HQ205716;HQ205717;HQ205718;HQ205719;HQ205720;HQ205721;HQ205722;HQ205723;HQ205724;HQ205725;HQ205726;HQ205727;HQ205728;HQ205729;HQ205730;HQ205731;HQ205732;HQ205733;HQ205734;HQ205735;HQ205736;HQ205737;HQ205738;HQ205739;HQ205740;HQ205741;HQ205742;HQ205743;HQ205744;HQ205745;NG_009248;NM_001199981;NM_001199982;NM_001199983;NM_001199984;NM_005006;X61100 AAH12068;AAH22368;AAH30833;AAY15061;ADP91534;ADP91535;ADP91536;ADP91537;ADP91538;ADP91539;ADP91540;ADP91541;ADP91542;ADP91543;ADP91544;ADP91545;ADP91546;ADP91547;ADP91548;ADP91549;ADP91550;ADP91551;ADP91552;ADP91553;ADP91554;ADP91555;ADP91556;ADP91557;ADP91558;ADP91559;ADP91560;ADP91561;ADP91562;ADP91563;ADP91564;ADP91565;ADP91566;ADP91567;ADP91568;ADP91569;ADP91570;ADP91571;ADP91572;ADP91573;BAG58551;BAG58743;BAG58762;BAG60573;BAG62283;CAA43412;EAW70379;EAW70380;NP_001186910;NP_001186911;NP_001186912;NP_001186913;NP_004997;P28331 Hs.471207;Hs.598436 1340753;1673467;2142029;2181568;2191127;2219984;5491838 D2S1782;MARC_14924-14925:1012937004:1;NDUFS1;NDUFS1__6223;RH48316;RH70856;SHGC-11975 CI-75Kd;CI-75k;MGC26839;PRO1304 NADH-coenzyme Q reductase;NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial;OTTHUMP00000163806;OTTHUMP00000206341;OTTHUMP00000206342;OTTHUMP00000206343;OTTHUMP00000206344;OTTHUMP00000206345;complex I 75kDa subunit;complex I, mitochondrial respiratory chain, 75-kD subunit;complex I-75kD;mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit APPROVED protein-coding ENSG00000023228 HGNC:7707 01145 157655;252010 REVIEWED 1346097 NDUFV2P1 NADH dehydrogenase (ubiquinone) flavoprotein 2 pseudogene 1 19 19 19 q13.3-q13.4 50769064 50770035 - 53727161 53728132 - 53223908 53224879 - 7607668 4730 ABBA01068218;AC092070;AMYH02036422;NG_001161;X84682 pseudo HGNC:7718 INFERRED 1316107 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 1 q23 134236257 134251337 + 161167209 161184185 + 161197419 161214395 + 1600573;1580863;1300048;6480464;6484699;6482269;6482255;6907045;7240710;8554872;8699517 11220739;18682780;20819849;20876714 11112787;12477932;12611891;12857734;14749350;15250827;15489334;16806233;17209039;17314511;17601350;17725712;1832859;18977241;19064571;19423540;19463981;19615732;19688755;19913121;20186120;20237496;20406964;20438785;20628086;20877624;21139048;21145461;21150319;21832049;21900206;21906983;21988832;22036843;22268729;22797925;22939629;23266820;23798571;24089531;24244333;24778252;24816145;8125298;8889548;9585441;9647766;9878551 4720 B7Z792;B7Z9L2;O75306 ABBA01016596;AC243898;AF013160;AF050640;AF183172;AF183173;AK222618;AK301641;AK309871;AK314807;AK315977;AL590714;AMYH02002034;BC000170;BC001456;BC008868;CA312786;CH471121;NG_013352;NM_001166159;NM_004550;XM_005245208;XM_005245209 AAC27453;AAC34362;AAG13808;AAG13809;AAH00170;AAH01456;AAH08868;ABM85013;BAD96338;BAH13528;BAH14348;EAW52625;EAW52626;NP_001159631;NP_004541;O75306;XP_005245265;XP_005245266 Hs.173611 1715741;2161288 RH119317;RH70304 CI-49 CI-49kD;NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial;NADH-ubiquinone oxidoreductase 49 kDa subunit;NADH-ubiquinone oxidoreductase NDUFS2 subunit;OTTHUMP00000032241;complex 1, mitochondrial respiratory chain, 49-KD subunit;complex I 49kDa subunit;complex I-49kD APPROVED protein-coding ENSG00000158864 HGNC:7708 04285 252010;602985 REVIEWED 1316117 NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa INVOLVED IN cellular metabolic process (inferred); respiratory electron transport chain (inferred); sensory perception of sound (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; ASSOCIATED WITH Abnormal mitochondria in muscle tissue (inferred); Acute necrotizing encephalopathy (inferred); Amyotrophy (inferred); FOUND IN extracellular vesicular exosome; mitochondrial respiratory chain complex I; INTERACTS WITH atrazine; thapsigargin; valproic acid 8 8 8 q13.3 121739460 121750342 + 125551343 125580751 + 124539102 124549986 + 1580863;1300048;6480464;6907045;7240710;8699517;8554872 10077726;10737800;10944468;11042152;12477932;12611891;15146197;15231747;15489334;16169070;16189514;17500595;17601350;18029348;18624398;18977241;19064571;20471030;20877624;21139048;21890473;21906983;21988832;22200994;22939629;23000965;8661098;9763677;9878551 4715 E7EWZ0;E9PF49;E9PH64;Q9Y6M9 ABBA01037900;AC090198;AF044956;AF067168;AF261090;AI907018;AK026538;AK302286;AK313432;AL136714;AMYH02018719;BC007672;BG703246;BG991068;BQ685604;CH471060;CN410734;NM_001278645;NM_001278646;NM_005005;S82655 AAB46797;AAD32452;AAD42057;AAF99683;AAH07672;BAG36223;BAH13667;CAI46222;EAW92068;NP_001265574;NP_001265575;NP_004996;Q9Y6M9 Hs.15977 5117196;5123319 GDB:451700;STS-AA037796 B22;CI-B22;DKFZp566O173;FLJ22885;LYRM3;UQOR22 LYR motif-containing protein 3;NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9;NADH-ubiquinone oxidoreductase B22 subunit;OTTHUMP00000228301;OTTHUMP00000228302;OTTHUMP00000228303;OTTHUMP00000228304;complex I B22 subunit;complex I-B22 protein-coding ENSG00000147684 HGNC:7704 03264 252010;601445 VALIDATED 2300351 NEAT1 nuclear paraspeckle assembly transcript 1 (non-protein coding) INTERACTS WITH (S)-nicotine; 17beta-estradiol; 4-hydroxyphenyl retinamide 11 11 11 q13.1 62516613 62520347 + 65190269 65194003 + 65422798 65426532 + 6480464 11458881;12565840;17270048;19217333;19716791;20881053;21170033;21532345;22960638;23129630;23362321;23835137;24173718;24280234;24507715;9253601;9858482 283131 ABBA01024118;ABBA01024119;ABBA01024120;AF001892;AF001893;AF080092;AF508303;AI590745;AK027191;AMYH02024958;AP000769;AP000944;EF177379;NR_028272;U60873 Hs.523789 1649361;1654069;1847846;1855740;2127851;2140325;2141561;2150138;2155292;2168662;2168664;2171556;2180562;2183640 A006J34;D11S4357;G20879;G33114;G33118;G33120;RH10980;RH17457;RH17854;RH36068;RH68491;SGC30381;SGC33927;WI-12334 LINC00084;NCRNA00084;TncRNA;VINC ncrna HGNC:30815 612769 VALIDATED 7204913 NEBL-AS1 NEBL antisense RNA 1 10 10 10 p12.31 21149889 21150510 + 21462919 21463852 + 21173990 21174923 + 18487259 100128511 AB371527;ABBA01034505;AL731547;AMYH02022417;AW204239;BX091902;NG_017092;NR_046283;NR_046284 Hs.635827 ncrna ENSG00000231920 HGNC:44899 VALIDATED 1345623 NECAB2 N-terminal EF-hand calcium binding protein 2 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; trichostatin A 16 16 16 q23.3 68304639 68338784 + 84002237 84036379 + 83968632 84002776 + 1580863;6480464;8554872 11641222;12044471;12477932;14702039;15489334;15604093;16189514;16713569;17689978;18519826;19694902;20379614;23455924;24722188;8619474;9110174 54550 H3BPH6;H3BQC7;H3BTW2;Q7Z6G3 ABBA01016922;ABBA01016923;ABBA01016924;ABBA01016925;ABBA01016926;AC040169;AF070637;AF193758;AK127376;AMYH02032558;AMYH02032559;AY299331;BC016979;BC131615;CH471114;NM_019065;XM_006721200 AAC25392;AAG28414;AAI31616;AAP57260;BAC86948;EAW95508;EAW95509;EAW95510;NP_061938;Q7Z6G3;XP_006721263 Hs.140950 1662704;1726823;5112001 G44311;G62802;L29692 EFCBP2;stip-2 EF hand calcium binding protein 2;EF-hand calcium binding protein 2;EF-hand calcium-binding protein 2;N-terminal EF-hand calcium-binding protein 2;OTTHUMP00000174988;neuronal calcium binding 2;neuronal calcium-binding protein 2;synaptotagmin-interacting protein 2 protein-coding ENSG00000103154 HGNC:23746 13263 PROVISIONAL 8663389 NDUFV2-AS1 NDUFV2 antisense RNA 1 18 18 p11.22 9121013 9136713 - 9121015 9136720 - 101927275 AA401733;ABBA01049947;AMYH02034285;AMYH02034286;AP005263;AP005899;BI520375;HG509732;HG509733;HY015092;NR_110771;NR_110772;XR_243827;XR_243829;XR_248444;XR_248446;XR_253762;XR_253764;XR_424889;XR_424890;XR_430052;XR_430053;XR_433454;XR_433455 Hs.656442 ncrna HGNC:50826 VALIDATED 1320669 NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1318163 1329866 + 1383526 1395588 + 1383661 1395589 + 1580863;6480464;6484696;6907045;7240710;8699517;8554872 20368511 10330338;10360771;11112787;11418099;12477932;12611891;14702039;14749350;15186778;15269216;15317750;16169070;17275378;17601350;17604671;18435906;18976975;18977241;20301352;20301382;20301403;20877624;21906983;21963094;22268729;22935918;22939629;24778252;24816145;8125298;8938450;9878551 374291 B3KRI2;F5GXJ1;F5H5N1;F5H736;K7ENU3;O75251;Q7LD69 ABBA01002641;AC005329;AF060512;AF115969;AK056061;AK091024;AK091046;AK091623;AK092169;AK127759;AK128713;AK222738;AK289671;AK293917;AMYH02035148;AMYH02035149;BC001715;BC005954;BC111517;BX099945;CH471139;DC340464;NG_008283;NM_024407;XM_005259556;XR_430138 AAC27669;AAG43130;AAH01715;AAH05954;AAI11518;AAP97240;ADZ15949;BAC03820;BAC87117;BAC87587;BAD96458;BAF82360;BAG52394;BAH11627;EAW69507;EAW69508;NP_077718;O75251;XP_005259613 Hs.211914 CI-20;CI-20KD;FLJ45860;FLJ46880;MGC120002;MY017;PSST NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial;NADH-coenzyme Q reductase;NADH-ubiquinone oxidoreductase 20 kDa subunit;NADH:ubiquinone oxidoreductase PSST subunit;OTTHUMP00000237829;OTTHUMP00000237830;OTTHUMP00000237831;OTTHUMP00000237833;PSST subunit;complex I 20kDa subunit;complex I, mitochondrial respiratory chain, 20-KD subunit;complex I-20kD APPROVED protein-coding ENSG00000115286 HGNC:7714 03491 256000;601825 REVIEWED 6770091 NECAP1P1 NECAP endocytosis associated 1 pseudogene 1 7 7 7 p14.1 37609150 37610370 - 37624717 37625937 - 37585114 37586334 - 442668 ABBA01056917;AC009530;AMYH02015545;CH236951;NG_009426 pseudo HGNC:43912 INFERRED 1603669 NECAP1 NECAP endocytosis associated 1 This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 12 12 12 p13.31 9811877 9827432 + 8234807 8250373 + 8082211 8097777 + 6480464;8699517;7240710;8554872 12477932;14555962;14665628;14702039;14973137;15292237;15489334;15494011;16344560;16879712;19380743;20237496;21139048;21832049;24399846 25977 A8K3C2;F5GYH1;F5H2U7;Q8NC96 ABBA01012236;AC006511;AI688397;AK074858;AK074880;AK074923;AK075013;AK094805;AK290537;AK303675;AK314424;AL050272;AMYH02025987;AMYH02025988;BC002888;BC067367;BC084551;BC110876;CH471116;CQ782887;CQ784000;DA496321;NG_034155;NM_015509;NR_024260 AAH02888;AAH67367;AAH84551;AAI10877;BAC11250;BAC11264;BAC11296;BAC11352;BAF83226;BAG64672;CAB43373;CAF86114;CAF86963;EAW88636;EAW88637;EAW88638;EAW88639;NP_056324;Q8NC96 Hs.555927 1700404;1848598;1848600 A006J36;G20881;RH103823 DKFZP566B183;EIEE21;MGC131900 NECAP endocytosis-associated protein 1;NECAP-1;OTTHUMP00000239043;adaptin ear-binding coat-associated protein 1;adaptin-ear-binding coat-associated protein 1 protein-coding ENSG00000089818 HGNC:24539 14819 611623;615833 REVIEWED 1320847 NECAB3 N-terminal EF-hand calcium binding protein 3 The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.22 28997925 29015296 - 32244893 32262264 - 33657087 33674458 - 1580863;6480464;8554872 10715114;10833507;11780052;12044471;12477932;12780348;14697346;14702039;15489334;18854154;19035353;20098747;20237496;21048031;21832049;21906983;21963094;22623531;9776767 63941 Q96P71;U3KPZ3;U3KQ06;U3KQC6;U3KQF5;U3KQJ7;U3KQM7;U3KQR6;X6RCW6 AB039947;ABBA01019224;AF193759;AF409141;AK023706;AK124388;AK291895;AK309285;AL121906;AL519842;AMYH02036957;BC023270;BC047673;BQ212085;BQ431858;CD580591;CH471077;NM_031231;NM_031232;XM_005260510;XR_244145 AAG28415;AAH47673;AAL01118;BAB14649;BAB16413;BAF84584;EAW76301;EAW76302;EAW76303;EAW76304;EAW76305;EAW76306;EAW76307;EAW76308;NP_112508;NP_112509;Q96P71;XP_005260567 Hs.516986 1778989;1794672;2144857;2160839;2166965 A006D04;AF021113;PMC344741P1;RH12699;RH78379 APBA2BP;EFCBP3;NIP1;STIP3;SYTIP2;XB51;dJ63M2.4;dJ63M2.5 EF-hand calcium binding protein 3;N-terminal EF-hand calcium-binding protein 3;Nek2-interacting protein 1;OTTHUMP00000030659;OTTHUMP00000030660;OTTHUMP00000035342;X11L-binding protein 51;amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein;amyloid beta A4 protein-binding family A member 2-binding protein;neuronal calcium-binding protein 3;neuronal calcium-binding protein NECAB3;synaptotagmin interacting protein 2;synaptotagmin interacting protein STIP3 APPROVED protein-coding ENSG00000125967 HGNC:15851 07168 612478 REVIEWED 1342968 NECAB1 N-terminal EF-hand calcium binding protein 1 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (+)-catechin; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 8 8 8 q21.3 87998620 88166361 + 91803921 91971630 + 90791693 90959402 + 6480464;8554872 12044471;12477932;14702039;15489334;17364817;18029348;21832049 64168 Q8N987 ABBA01037411;ABBA01037412;AC093329;AC103770;AF193756;AF414126;AK095533;AK098356;AMYH02018395;AMYH02018396;AY224210;BC016340;BC068448;CH471060;DB481874;NM_022351 AAG28412;AAH16340;AAH68448;AAO34126;AAP33146;BAC04568;EAW91669;EAW91670;NP_071746;Q8N987 Hs.719466 1659829;1683980;1688584;1697476;1726435;1771718;1786826;2114773 AFMA041XG5;G32122;G62597;RH102239;RH91928;RH93833;SHGC-172443;SHGC-30798 EFCBP1;STIP-1 EF hand calcium binding protein 1;EF-hand calcium binding protein 1;EF-hand calcium-binding protein 1;N-terminal EF-hand calcium-binding protein 1;OTTHUMP00000225554;neuronal calcium binding protein;neuronal calcium-binding protein 1;synaptotagmin interacting protein 1 protein-coding ENSG00000123119 HGNC:20983 16851 VALIDATED 1343620 NDUFV3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 29462954 29479344 + 44313378 44329773 + 42893268 42909663 + 1580863;6480464;6484113;6907045 10508479;10830953;10950923;12477932;12600270;12611891;14702039;15489334;16169070;16849371;17601350;18029348;18977241;19064571;19343046;20877624;21890473;22939629;24250222;8443212;8889548;9344673;9878551 4731 P56181 AB038163;ABBA01004524;ABBA01004525;AK056041;AK289586;AK308228;AMYH02037882;AMYH02037883;AP001629;AY173949;BC021217;BC033766;BC054016;BF311986;BI829092;BU629860;CF123536;CH471079;CR542174;CR542190;NM_001001503;NM_021075;X99726;X99727;X99728 AAH21217;AAH33766;AAH54016;AAO49719;ABM83644;ABM86893;BAB13732;BAB71080;BAF82275;CAB56704;CAG46971;CAG46987;EAX09523;EAX09524;EAX09525;EAX09526;NP_001001503;NP_066553;P56181 Hs.473937 1650327;1693578;2145790;2170961;2170963 A005Z22;D21S1869;G20624;SHGC-58484;SHGC-87668 CI-10k;CI-9KD NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial;NADH-ubiquinone oxidoreductase 9 kD subunit;NADH-ubiquinone oxidoreductase 9 kDa subunit;NADH-ubiquinone oxidoreductase flavoprotein 3, 10kD;OTTHUMP00000109386;OTTHUMP00000109387;complex I 10kDa subunit;complex I, mitochondrial respiratory chain, 10-kD subunit;complex I-9kD;mitochondrial NADH oxidoreductase-like protein;renal carcinoma antigen NY-REN-4 APPROVED protein-coding HGNC:7719 03716 602184 REVIEWED 1603996 NECAP2 NECAP endocytosis associated 2 This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 1 1 1 p36.13 15247104 15266526 + 16767167 16786585 + 16440672 16460090 + 6480464 11076863;11214971;11256614;12477932;14555962;14665628;14702039;15489334;15489336;16189514;16341674;16381901;16710414;19380743;19738201;21139048;21832049;22939629;8125298;8889548 55707 D6RAN6;D6RB24;F6SKB8;H0Y970;Q9NVZ3 ABBA01004668;AC244454;AK001282;AK021938;AK023545;AK024468;AK223344;AK300764;AK302227;AL137802;AL669962;BC017014;BC018914;BM751287;BQ005870;BU676615;CH471167;NM_001145277;NM_001145278;NM_018090 AAH17014;AAH18914;BAA91598;BAB14605;BAB15758;BAD97064;BAG62429;BAG63581;CAL38220;EAW51780;EAW51781;EAW51782;EAW51783;EAW51784;NP_001138749;NP_001138750;NP_060560;Q9NVZ3 Hs.437385 1699888;1733048;1797110;2149557;5037552 D1S1399;D8S2279;FLJ10420;RH103552;SHGC-74267 FLJ10420 NECAP endocytosis-associated protein 2;NECAP-2;OTTHUMP00000002441;OTTHUMP00000221692;OTTHUMP00000221693;OTTHUMP00000221695;OTTHUMP00000221697;OTTHUMP00000221698;adaptin ear-binding coat-associated protein 2;adaptin-ear-binding coat-associated protein 2 APPROVED protein-coding ENSG00000157191 HGNC:25528 07674 611624 REVIEWED 1343378 NEDD10 neural precursor cell expressed, developmentally down-regulated 10 4740 HGNC:7724 1318016 NEBL nebulette This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 10 10 10 p12 20755603 21149774 - 21068900 21463116 - 20779971 21174187 - 1581084;6480464;8554872 11140941 10470015;11309420;11822876;12477932;12504851;12883659;14702039;15004028;15164054;15489334;16385451;16964398;17177073;17213182;17987659;18157088;18419822;18677772;18823973;19056867;19913121;20628086;20951326;23340173;23389630;23535730;23985323;24563210;24722188;8581976;8889548;9733644 10529 B4DH47;O76041;Q59FZ8;Q5JUU7;Q5JUU8 AB209311;ABBA01034505;ABBA01034506;AJ580772;AK096540;AK294926;AK295186;AK316521;AL157398;AL158160;AL359175;AL731547;AMYH02022414;AMYH02022415;AMYH02022416;AMYH02022417;BC110452;BC110453;BC126132;BC126134;BC144201;BI522541;BM973051;CH471072;CR744526;DT220372;EF445000;KF455213;NG_017092;NM_001173484;NM_006393;NM_213569;XM_005252342;XM_005252343;XM_005252344;XR_242691;Y16241;Y17673 AAI10453;AAI10454;AAI26133;AAI26135;ACA06021;ACA06022;ACA06023;ACA06024;ACA06025;ACA06026;BAC04812;BAD92548;BAG58008;BAG58190;BAH14892;CAA76130;CAA76810;CAE45323;EAW86172;EAW86175;NP_001166955;NP_006384;NP_998734;O76041;XP_005252399;XP_005252400;XP_005252401 Hs.5025 1662797;1664081;1706248;1711962;1718279;1751525;1780182;2108835;2111418;2126066;2136578;2142932;2155351;2172195;2172197;2191113;5113034 A006A32;D10S1345E;D10S1638;D10S2191;G20655;MARC_14799-14800:1012844373:1;NEBL_9132;RH118424;RH122911;RH47055;RH66460;SHGC-105300;SHGC-154553;SHGC-34123;SHGC-80667;WI-13343;WI-13668 FLJ53769;LASP2;LNEBL;MGC119746;MGC119747;bA56H7.1 LIM-nebulette;OTTHUMP00000019268;OTTHUMP00000019269;actin-binding Z-disk protein APPROVED protein-coding ENSG00000078114 HGNC:16932 10403 605491 REVIEWED 1350647 NEDD7 neural precursor cell expressed, developmentally down-regulated 7 4737 HGNC:7731 5013872 NEDD8-MDP1 NEDD8-MDP1 readthrough This locus represents naturally occurring read-through transcription between the neighboring NEDD8 (neural precursor cell expressed, developmentally down-regulated 8) and MDP1 (magnesium-dependent phosphatase 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010] 14 14 q 24683143 24701576 - 24213937 24232370 - 6480464;8554872 20967262;21890473;21906983;21963094;21987572;22505724;23000965 100528064 E9PL57;E9PS38;S4R3E9 ABBA01061337;ABBA01061338;ABBA01061339;AL096870;AMYH02028880;DN993851;NM_001199823 NP_001186752 Hs.220963 1646846 WI-15002 NEDD8-MDP1 read-through transcript;OTTHUMP00000235205 APPROVED protein-coding ENSG00000255526 HGNC:39551 VALIDATED 1317123 NEDD1 neural precursor cell expressed, developmentally down-regulated 1 INVOLVED IN G2/M transition of mitotic cell cycle (inferred); mitotic cell cycle (inferred); mitotic nuclear division (inferred); FOUND IN centrosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; arsenous acid 12 12 12 q23.1 96967004 97013462 + 97301001 97347474 + 96907223 96953696 + 6480464 11076968;11956313;12221128;12477932;12852856;14702039;15489334;16051665;16344560;16378099;16461362;16462731;19029337;19243593;19369198;19509060;19710015;20224777;20360068;21139048;21906983;21988832;22595525;22747683;22818914;22895009;23106787;23273898;23443559;24189344;7790358;7814034;8838651 121441 A8K1Z3;G3V2M9;G3V2S2;G3V2V3;G3V4I9;G3V4L2;Q8NHV4 AA236927;ABBA01053308;AC007564;AC013417;AK093221;AK290058;AK303656;AK315821;AL832466;AL832468;AMYH02027017;AMYH02027018;BC020799;BC026168;BC027605;CH471054;DB074571;NM_001135175;NM_001135176;NM_001135177;NM_152905;XM_005268644;XM_006719236;XM_006719237 AAH20799;AAH27605;ABM82532;ABM85725;BAC04099;BAF82747;BAF98712;BAG64657;EAW97577;EAW97578;EAW97579;EAW97580;NP_001128647;NP_001128648;NP_001128649;NP_690869;Q8NHV4;XP_005268701;XP_006719299;XP_006719300 Hs.270084 1686774;1794088;2108305;5106481 NEDD1_8133;PMC310794P11;RH79078;RH93549 FLJ35902;GCP-WD;NEDD-1;TUBGCP7 OTTHUMP00000244125;OTTHUMP00000244126;OTTHUMP00000244131;OTTHUMP00000244133;OTTHUMP00000244134;neural precursor cell expressed developmentally down-regulated protein 1 protein-coding ENSG00000139350 HGNC:7723 02655 600372 VALIDATED 736723 NEFH neurofilament, heavy polypeptide Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008] 22 22 22 q12.2 13676024 13687118 + 29876181 29887279 + 29480192 29491290 + 1302518;1300048;1302574;1580863;6480464;6907045;7240710;8554872 9763431;9931323 10048485;11238716;12130654;12477932;12674703;12963086;14662745;14722583;15489334;16084104;1688443;17290105;17498690;17626162;18319731;18635547;19054571;19104679;19678766;20140245;20213320;20301623;20624930;21349546;21792676;21858182;21976236;21987572;22810585;23079625;23117489;23134506;23632043;24250222;24260563;2557834;3138108;7536898;7849698;8102569;8224877;8379998;8621664;8889548;9313898;9388258;9592082;9875737 4744 P12036 AA908662;AB020652;ABBA01055265;AC000035;AF203032;AK302660;AMYH02038199;BC008648;BC073969;BE223015;BE782873;BG470629;BM686053;CH471095;NG_008404;NM_021076;S66488;X15306;X15307;X15308;X15309;XM_005261619;XM_006724257 AAB28609;AAF13722;AAH08648;AAH73969;BAA74868;BAG63896;CAA33366;EAW59804;EAW59805;EAW59806;NP_066554;P12036;XP_005261676;XP_006724320 Hs.198760 2129750 WI-1055 NF-H;NFH 200 kDa neurofilament protein;OTTHUMP00000199266;neurofilament heavy polypeptide;neurofilament triplet H protein;neurofilament, heavy polypeptide 200kDa APPROVED protein-coding ENSG00000100285 HGNC:7737 01204 105400;162230 REVIEWED 735521 NEDD8 neural precursor cell expressed, developmentally down-regulated 8 ENCODES a protein that exhibits ubiquitin protein ligase binding; INVOLVED IN protein neddylation; PARTICIPATES IN p53 signaling pathway; neddylation pathway; proteasome degradation pathway involving cullin-dependent ubiquitin ligases; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; arsenous acid; atrazine 14 14 14 q12 4550695 4566214 - 24686057 24701576 - 24216851 24232370 - 1549457;1580863;6480464;6484113;8554872 15180522 10207026;10217437;10318914;10500095;10585493;10587588;10597293;10713156;10772955;10828074;11024059;11027288;11181995;11259415;11585840;11675391;11953428;12215427;12477932;12481031;12504025;12554766;12565873;12646924;12730221;12740388;12759363;12816948;1378265;14564014;14673145;14676825;14690597;14702039;14757770;15060148;15107402;15242646;15489334;15567417;15694336;15775960;15988528;16111684;16169070;16177058;16196087;16503656;16620772;16735510;16861300;16877356;16964240;16979187;16980297;16998474;17098746;17119158;17132228;17192413;17206147;17220875;17318178;17332328;17353931;17369817;17438373;17440617;17543862;17546054;17549501;17609381;17660949;17935801;18096514;18173839;18247557;18264111;18274552;18323857;18627766;18652489;18723677;18789977;18805092;18826954;18851830;19245792;19281774;19295130;19328766;19471022;19615732;19617556;19713960;19784069;20029837;20101219;20190741;20554519;20596523;20603103;20688984;20847044;20850415;21119685;21139048;21145461;21169563;21193393;21252943;21316600;21399617;21474709;21693764;21765416;21822215;21887275;21890473;21906983;21963094;21987572;22004789;22069333;22081073;22095636;22190034;22268729;22271254;22370482;22388932;22405651;22466964;22474075;22502714;22505724;22537386;22573887;22584050;22612509;22691497;22767593;22836579;22863883;22895816;22939629;22959436;23000965;23001041;23105008;23118980;23175788;23201271;23209320;23246961;23267066;23290524;23300442;23394999;23401859;23539442;23554956;23776465;23812220;23824602;23936405;24019527;24076655;24130483;24245672;24337577;24634510;24654937;24811749;24816145;24821572;24949976;25015289;8395831;8889548;9353319;9694792;9790970;9857030 4738 F8VSA6;Q15843 ABBA01061337;ABBA01061338;ABBA01061339;AK125214;AL096870;AMYH02028880;BC038290;BC064899;BC104200;BC104201;BC104664;BE548741;CF130271;CH471078;CR407662;D23662;JC212125;NM_006156 AAI04201;AAI04202;AAI04665;BAA04889;CAG28590;CDM22114;NP_006147;Q15843 Hs.531064 1644037;1652813;1721141;1771358;2107431;2141478;2191595;5015404;5015879;5015881;5016781;5020946;5020948;5024413;5037552;5109281 A006T15;D14S853;D1S1425;D8S2279;G35510;G35786;G59405;GDB:314949;GDB:335751;L17705;L17877;L17971;MARC_26779-26780:1034181609:3;NEDD8_7836;SHGC-67307;WI-15929 FLJ43224;MGC104393;MGC125896;MGC125897;Nedd-8 OTTHUMP00000164709;OTTHUMP00000235207;OTTHUMP00000241221;neddylin;neural precursor cell expressed developmentally down-regulated protein 8;neural precursor cell expressed, developmentally down-regulated gene 8;ubiquitin-like protein Nedd8 protein-coding ENSG00000129559 HGNC:7732 04412 603171 VALIDATED 1343217 NEFHP1 neurofilament, heavy polypeptide pseudogene 1 1 1 1 p13.1 115511118 115513743 - 117282606 117285231 - 116739984 116742609 - 339396 ABBA01068494;AL135798;AMYH02001795;NG_022735 NEFHL APPROVED pseudo HGNC:7738 INFERRED 1345146 NEFLL1 neurofilament, light polypeptide-like 1 3145240 4748 HGNC:7740 1344238 NEFL neurofilament, light polypeptide Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008] 8 8 8 p21 23772893 23778556 - 24808468 24814383 - 24950955 24956869 - 1358514;1580863;2299007;2299053;2298999;6480464;6907045;7240710;8554872;8699517 14733962;16182933;17683840;8814452 10373510;10841809;11220745;12133495;12226091;12231460;12403814;12432080;12477167;12477932;12481988;12566280;12730211;12815021;12837694;12911634;14622581;14662745;1497855;15111691;15122254;15241803;15324660;15383276;15489334;15654615;15686490;15857389;16084104;16169070;16344560;16452125;16678934;16930284;17052987;17290105;17475803;17620486;17683050;17903209;17923616;18023247;18758688;1902666;19034380;19110265;19123978;19158810;19286384;19488899;19678766;19950375;20039262;20086018;20201926;20213320;20301366;20301384;20301462;20301532;20381070;21039366;21044950;21139048;21197541;21860087;21890473;21983493;22246235;22288874;22302611;22319610;22586326;22680408;22765307;22797925;23287695;23455924;23705811;23802559;23827424;23870535;24026393;24073237;24242746;24244333;24454911;24722188;25027693;2516804;3034332;3036423;3121319;3145240;6135695;8125298;8180132;8344946;8530496;8615909;8621664;8665664;8863508;9388258;9425014;9481670;9763415 4747 P07196;Q8TCR7 ABBA01005555;AC107373;AK057731;AK075003;AK127430;AK225975;AK299095;AK314591;AL713644;AMYH02017634;AY082067;AY156690;BC037803;BC039237;BC066952;BQ720008;CH471080;DA195749;DA222123;KF495714;NG_008492;NM_006158;S70309;X05608 AAD14057;AAH39237;AAH66952;AAL92540;AAN74826;ABM83572;ABM86810;BAG52047;BAG54502;BAG61155;CAA29097;CAD28456;EAW63598;EAW63599;EAW63600;EAW63601;NP_006149;P07196 Hs.521461 1665595;1729063;1741575;1768554;2115509;2115571;2115966;2151465;2191237;5492068 GDB:181541;MARC_16719-16720:1018026557:1;Nefl;Nfl;RH120868;RH71170;SHGC-6135;STS-R51365;WI-13419;WI-16152 CMT1F;CMT2E;FLJ53642;NF-L;NF68;NFL;PPP1R110 68 kDa neurofilament protein;OTTHUMP00000196614;light molecular weight neurofilament protein;neurofilament light polypeptide;neurofilament protein, light chain;neurofilament subunit NF-L;neurofilament triplet L protein;neurofilament, light polypeptide 68kDa;neurofilament-light APPROVED protein-coding ENSG00000277586 HGNC:7739 01206 162280;607684;607734 REVIEWED 1348787 NEFLL2 neurofilament, light polypeptide-like 2 4749 HGNC:7741 2794507 NEFLP1 neurofilament, light polypeptide pseudogene 1 Y Y Y q11.2 8079457 8079888 - 23383237 23383668 - 21221351 21221782 - 12815422;9847074 359795 ABBA01057524;AC009239;NG_002813 2188751;2188767 G66583;G66591 pseudo HGNC:37662 INFERRED 1344203 NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 18 18 18 q21.31 52429273 52785147 + 55711580 56068772 + 58044355 58401540 + 6480464;6893327;6484113;6907045;8554872 22417925 10594025;11046148;11244092;11502596;11562473;11696533;11742982;11748237;11802777;11840194;12050153;12139396;12477932;12522688;12729930;12876068;12911626;14556380;14615060;14702039;15040001;15044175;15140763;15217910;15231748;15252135;15328345;15342556;15489223;15489334;15496141;15548568;15576372;15677482;15778465;15814530;16006511;16103266;16169070;16344560;16416336;16701206;16716084;16788695;16844684;16964398;17081983;17289006;17331106;17429078;17487281;17502380;17544362;17652939;18268134;18293164;18321968;18321969;18322022;18498246;18577513;18591455;18701608;18981174;19143627;19144635;19153599;19322201;19343052;19364400;19380724;19381069;19557014;19602703;19615332;19615732;19617352;19635985;19664597;19690890;19706893;19917253;19953087;20003179;20051513;20064473;20090362;20338996;20379614;20466724;20504882;20525693;20542005;20675381;20730100;20862313;20936779;21039987;21052022;21057195;21088674;21139048;21154329;21159863;21176637;21463633;21478478;21572392;21762798;21852580;21890473;21900244;21903422;21906983;21909941;21963094;21987572;21988832;22001757;22190034;22213801;22217575;22361880;22385262;22496338;22505712;22558212;22754043;22773947;22879586;22904170;22921829;22952603;22957059;23000965;23236378;23262292;23305486;23353631;23396981;23444366;23529131;23589291;23594824;23644597;23686771;23792956;23793025;23812770;23886940;23895345;23936628;24071738;24214981;24284497;24446284;24451387;24456330;24529757;24688054;24831002;24831004;24850914;24920754;25092867;8576257;8619474;9110174;9153201;9455477;9575161;9649342 23327 B7Z2P9;B7Z6K0;K7EKL1;K7EN51;K7ENS6;K7EQC5;K7ERN1;Q96PU5 AB007899;AB071179;ABBA01056142;ABBA01056143;ABBA01056144;ABBA01056145;ABBA01056146;AC015988;AC090236;AC107896;AF070601;AF210730;AF385931;AK091189;AK130420;AK294963;AK300444;AL137469;AMYH02034802;AMYH02034803;AMYH02034804;AMYH02034805;AMYH02034806;AMYH02034807;AMYH02034808;AY112983;AY112984;AY112985;AY243313;AY243314;AY243315;AY243316;AY243317;AY243318;AY243319;AY243321;AY243322;AY256662;AY312514;AY751751;BC000621;BC019345;BC032597;BP260852;BQ215431;CH471096;DA248109;DA759940;DA819220;DB317092;DB473368;DC363885;DC381911;DQ181796;FB659840;NG_029954;NM_001144964;NM_001144965;NM_001144966;NM_001144967;NM_001144968;NM_001144969;NM_001144970;NM_001144971;NM_001243960;NM_015277;XM_005266658;XM_005266660;XM_005266663;XM_006722421;XM_006722422;XM_006722423;XM_006722424;XM_006722425;XM_006722426;XM_006722427;XM_006722428;XM_006722429;XM_006722430 AAG43524;AAH00621;AAH19345;AAH32597;AAM46208;AAM76728;AAM76729;AAM76730;AAP75706;AAP97872;AAP97873;AAU95503;ABA10330;ABM81839;ABM84276;BAA23711;BAB69424;BAH11935;BAH13286;CAB70754;CAS01775;EAW63064;EAW63065;EAW63066;EAW63067;EAW63068;EAW63069;EAW63070;EAW63071;EAW63072;EAW63073;EAW63074;EAW63075;NP_001138436;NP_001138437;NP_001138438;NP_001138439;NP_001138440;NP_001138441;NP_001138442;NP_001138443;NP_001230889;NP_056092;Q96PU5;XP_005266715;XP_005266717;XP_005266720;XP_006722484;XP_006722485;XP_006722486;XP_006722487;XP_006722488;XP_006722489;XP_006722490;XP_006722491;XP_006722492;XP_006722493 Hs.185677 1342045;1655340;1656998;1673589;1680561;1690414;1714143;1724055;1731369;1740779;1751845;1768850;1780190;1783656;1783766;1850169;1850284;1857827;2118570;2136159;2143151;2144156;2153415;2164337;2179135;2181910;2182466;2183467;2183469;2217664;5024756;5111847;7184802 A004M46;A005M03;A008X40;D17S1835;D18S1026;D18S1055;D18S1348;D18S21;D18S825;D18S887;G20322;G42355;NEDD4L_3797;RH119039;RH119679;RH15883;RH15898;RH16409;RH48825;RH68056;RH68474;RH80030;RH92534;SGC33936;SHGC-105843;SHGC-132384;SHGC-154558;SHGC-24432;SHGC-82284;STS-AA019094;STS-H54325;WI-12140 FLJ33870;KIAA0439;NEDD4-2;NEDD4.2;RSP5;hNedd4-2 E3 ubiquitin-protein ligase NEDD4-like;neural precursor cell expressed, developmentally down-regulated gene 4-like;ubiquitin-protein ligase NEDD4-like;ubiquitin-protein ligase Rsp5 APPROVED protein-coding ENSG00000049759 HGNC:7728 05903 606384 REVIEWED 7206873 NEFMP1 neurofilament, medium polypeptide pseudogene 1 10 10 10 49621850 49623584 + 56358706 56360440 + 54598946 54600680 + 100420737 ABBA01019402;ABBA01019403;AL391356;AMYH02023123;NG_025505 pseudo HGNC:45030 INFERRED 6481262 NEGR1-AS1 NEGR1 antisense RNA 1 100874050 AL627317 APPROVED miscrna HGNC:43593 1348692 NEGR1 neuronal growth regulator 1 INVOLVED IN feeding behavior (inferred); locomotory behavior (inferred); positive regulation of neuron projection development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; cobalt dichloride 1 1 1 p31.1 70157555 71037580 - 71868625 72748533 - 71402942 72282594 - 737633;1299429;1580863;6480464;8554872 10075727;12477932 12975309;14702039;16602701;16710414;17500595;17903294;18204098;19079260;19079261;19164386;19692490;19746409;19812171;19851340;19910938;19913121;20215397;20379614;20386550;20520848;20571754;20628086;20712903;20724581;20725061;20816152;20816195;20935630;21427694;21624008;21750520;21982860;22179955;22360420;22443470;22589738;23229156;23563607;23563609;23669352;23950990;24250222 257194 B4DI94;Q7Z3B1 ABBA01074458;ABBA01074459;ABBA01074460;ABBA01074461;ABBA01074462;ABBA01074463;ABBA01074464;ABBA01074465;ABBA01074466;ABBA01074467;ABBA01074468;ABBA01074469;ABBA01074470;ABBA01074471;AK092307;AK295481;AL354949;AL355590;AL356600;AL359821;AL365362;AL391239;AL513349;AL627317;AL645724;AL645767;AMYH02001249;AMYH02001250;AMYH02001251;AMYH02001252;AMYH02001253;AMYH02001254;AMYH02001255;AMYH02001256;AMYH02001257;AMYH02001258;BC036771;BX538014;BX648027;CH471059;CR749215;NM_173808 AAH36771;BAC03858;BAG58406;CAD97961;CAH18072;EAX06428;EAX06429;EAX06430;NP_776169;Q7Z3B1 Hs.146542 1341927;1650241;1664120;1681066;1683631;1684282;1692422;1692646;1692956;1693032;1693140;1703440;1705240;1710892;1715715;1717691;1718873;1719781;1723187;1724011;1724057;1724437;1750885;1762553;1769677;1781400;1852107;2109457;2116826;2125812;2135264;2148188;2151681;2160191;2171215;2175673;5127977 174;AFMb280xc1;AL009401;AL010101;AL010102;AL033860;AL033950;AL034194;AL034242;AL034296;D1S224;D1S2490;G29197;KIF2C_9208;RH118419;RH118958;RH119040;RH119304;RH122276;RH122381;RH123142;RH123582;RH67891;RH79991;RH80738;SHGC-104652;SHGC-106944;SHGC-146367;SHGC-152670;SHGC-75028;SHGC-78108;SHGC-82525;SHGC-829;SHGC-84225;WI-11980;WI-18412;WI-4469 DMML2433;IGLON4;MGC46680;Ntra IgLON family member 4;KILON;OTTHUMP00000011267;OTTHUMP00000011268;a kindred of IgLON;neurotractin protein-coding ENSG00000172260 HGNC:17302 14820 613173 VALIDATED 5683644 NEGR1-IT1 NEGR1 intronic transcript 1 (non-protein coding) 1 1 p31.1 72259915 72302695 - 71794232 71837012 - 12477932;18204098 100852409 ABBA01074464;AL356600;AL359821;AMYH02001252;BC042082;HG492169;NR_046218 Hs.681780 RP11-175G14.1 ncrna HGNC:41432 VALIDATED 1322432 NEB nebulin This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] 2 2 2 q22 145956131 146206052 - 152341853 152591001 - 151485339 151734487 - 1580863;6480464;7240710;8554872;8699517 10051637;11016930;11309420;11425319;11851340;11882289;11994971;12064939;12207937;12477932;12482578;12837582;14702039;15048123;15221447;15266303;15342556;15840729;15967462;1682316;16902413;16917880;17275809;18067320;18157088;18468998;18639526;19056867;19232495;19913121;19944167;20301465;2037050;20498015;20628086;20936779;21350120;21724397;22266860;22367672;22505724;22939629;22941678;23455922;23602568;23615443;23715096;23985323;24960163;2838409;3397062;7739042;8580725;8626778;8816284;9284930;9359044;9501083;9514727 4703 B7Z6B9;H0Y3P5;H0Y786;H7BZD5;H7C2B3;H7C2D0;H7C2Z5;P20929;Q05C45;Q14214;Q96MF8 ABBA01004774;ABBA01004775;ABBA01004776;ABBA01004777;ABBA01004778;ABBA01122106;AC009497;AC107052;AC116650;AK056994;AK093855;AK096887;AK096903;AK129532;AK300079;AK300674;AK300722;AK307607;AMYH02004982;AMYH02004983;AMYH02004984;AMYH02004985;AMYH02004986;AMYH02004987;BC012533;BC022421;BC029384;BC050436;BC056251;BC063136;BC105590;BP232190;BP233123;BX283647;BX648963;CH471058;M19669;NG_009382;NM_001164507;NM_001164508;NM_001271208;NM_004543;U35636;U35637;X58122;X83957;XM_005246590;XM_005246591;XM_005246592;XM_005246593;XM_005246594;XM_005246595;XM_005246596;XM_005246597;XM_005246598;XM_005246599;XM_005246600;XM_005246601;XM_005246602;XM_005246603;XM_005246604;XM_005246606;XM_005246608;XM_005246610;XM_005246611;XM_005246612;XM_005246613;XM_005246615;XM_005246616;XM_005246617;XM_005246618;XM_006712541;XM_006712542 AAA59917;AAB02621;AAB02622;AAH22421;AAH29384;AAH50436;AAH56251;AAH63136;AAI05591;AAY14651;AAY14977;BAB71337;BAG53391;BAH13205;BAH13324;BAH13335;CAA41124;CAA58788;EAX11499;EAX11500;EAX11501;EAX11502;EAX11503;EAX11504;EAX11505;EAX11506;NP_001157979;NP_001157980;NP_001258137;NP_004534;P20929;XP_005246647;XP_005246648;XP_005246649;XP_005246650;XP_005246651;XP_005246652;XP_005246653;XP_005246654;XP_005246655;XP_005246656;XP_005246657;XP_005246658;XP_005246659;XP_005246660;XP_005246661;XP_005246663;XP_005246665;XP_005246667;XP_005246668;XP_005246669;XP_005246670;XP_005246672;XP_005246673;XP_005246674;XP_005246675;XP_006712604;XP_006712605 Hs.588655 1656543;1683914;1705624;1732778;1734730;1734748;1734758;1776526;2108303;2151714;2170371;2180852;5014530;5024561;7184851 D11S1935E;D2S1520E;D2S1538E;D2S1543E;GDB:313839;NEB_8499;RH48670;RH48700;RH67958;RH70613;RH75998;SGC35408;SHGC-31419;SHGC-83315 DKFZp686C1456;FLJ11505;FLJ36536;FLJ39568;FLJ39584;NEB177D;NEM2 OTTHUMP00000204401;nemaline myopathy type 2 APPROVED protein-coding ENSG00000183091 HGNC:7720 01196 161650;256030 REVIEWED 1323805 NEIL2 nei endonuclease VIII-like 2 (E. coli) NEIL2 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226])[supplied by OMIM, Mar 2008] 8 8 8 p23.1 10756501 10774181 + 11627172 11644854 + 11769663 11787345 + 6480464;6907045;8554872 11076863;11230166;12097317;12200441;12477932;12509226;14522990;14702039;14734554;15175427;15339932;15489334;15489336;16344560;16381901;16982218;17029639;17150535;17686777;18515411;18594018;18651651;19322201;19424503;19489739;20175991;20496165;20522537;20534351;20819778;21507922;21906983;22130663;22199273;22497777;23291594;23942779;24250222;8125298 252969 E9PPL4;Q969S2 AB079070;ABBA01026877;AC069185;AK056206;AK097389;AK225837;AK294224;AMYH02017441;AY306127;BC013952;BC013964;BC045822;BX537529;CH471157;DA205315;DA207321;DB452586;NM_001135746;NM_001135747;NM_001135748;NM_145043;XM_005272381;XM_005272382;XM_005272383 AAH13952;AAH13964;AAH45822;AAP45052;ACE86921;ACE87608;BAB71120;BAC05030;BAC06478;BAG57528;CAD97774;CAL38464;EAW65623;EAW65624;EAW65625;EAW65626;NP_001129218;NP_001129219;NP_001129220;NP_659480;Q969S2;XP_005272438;XP_005272439;XP_005272440 Hs.293818 1681604;1712270;1777675;1855852;2109551;2140107 A008R37;Cda1jc12;G54043;IB46;NEIL2__6226;RH108 FLJ31644;MGC2832;MGC4505;NEH2;NEI2 DNA glycosylase/AP lyase Neil2;DNA-(apurinic or apyrimidinic site) lyase Neil2;OTTHUMP00000116006;OTTHUMP00000229177;OTTHUMP00000229179;OTTHUMP00000229180;OTTHUMP00000229498;endonuclease 8-like 2;endonuclease VIII-like 2;nei homolog 2;nei like 2;nei-like protein 2 APPROVED protein-coding ENSG00000154328 HGNC:18956 16406 608933 VALIDATED 735476 NEFM neurofilament, medium polypeptide Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 8 8 8 p21 23734685 23740017 + 24770712 24776607 + 24913761 24919093 + 1300048;1302566;1580863;6480464;6907045 14662746 10762698;11563628;12133495;12477932;12963086;1348579;14583397;14662745;15032605;15290901;15342556;1537832;15822905;16006557;16084104;16734940;17043677;17498690;18029348;19034380;20195357;20201926;20213320;20381070;20471030;20562859;20624930;21139048;21219885;21565611;21816823;21890473;21956116;22586326;24244333;24250222;2450354;24636402;24984263;2557834;3608989;7790359;7829101;8344946;8620924;8702840 4741 E7EMV2;E7ESP9;P07197;Q9UK51 ABBA01005553;AF106564;AF181990;AK294681;AK296226;AMYH02017632;BC002421;BC071752;BC096757;BI496345;BP247321;BP311096;CH471080;DC318935;DC332005;DC352660;EF560736;EF560737;NG_008388;NM_001105541;NM_005382;Y00067 AAF00492;AAH96757;ABQ59046;ABQ59047;ACT64376;ACT64377;BAG57843;BAG58949;CAA68276;EAW63602;NP_001099011;NP_005373;P07197 Hs.458657;Hs.730072 1791784;1796398;2150238;2191195 D8S1927;MARC_16085-16086:1013616869:1;NEF3_219;PMC125376P1 NEF3;NF-M;NFM 160 kDa neurofilament protein;OTTHUMP00000162831;OTTHUMP00000224887;OTTHUMP00000225067;neurofilament 3;neurofilament 3, medium;neurofilament medium polypeptide;neurofilament triplet M protein;neurofilament, medium polypeptide 150kDa;neurofilament-3 (150 kD medium) APPROVED protein-coding ENSG00000104722 HGNC:7734 01205 162250 REVIEWED 1319690 NEK1 NIMA-related kinase 1 The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 4 4 4 q33 167647120 167866584 - 170314421 170533778 - 169393270 169612629 - 1580863;6480464;7240710;8554872;8699517 10508479;11572484;12477932;1382974;14690447;14702039;15231747;15345747;15604234;16344560;18029348;18843199;19924516;20230784;20501547;20800603;21139048;21211617;21301226;22482978;22499340;23255108;23345434;23851348;8274451 4750 D6RBG5;H0Y8M6;Q5JXL9;Q96PY6 AB067488;ABBA01070342;AC084724;AC116615;AC116621;AF155113;AI984346;AK025658;AK027580;AL050385;AMYH02010481;AMYH02010482;BC015147;BC037790;BC068201;BC114491;CD358162;CH471056;CR933642;CR936672;DA697159;NG_027982;NM_001199397;NM_001199398;NM_001199399;NM_001199400;NM_012224;XM_006714227;XM_006714228;Z25431 AAD42879;AAH15147;AAH37790;AAI14492;BAB15207;BAB55209;BAB67794;CAA80918;CAI45943;CAI46225;EAX04787;EAX04788;EAX04789;EAX04790;EAX04791;NP_001186326;NP_001186327;NP_001186328;NP_001186329;NP_036356;Q96PY6;XP_006714290;XP_006714291 Hs.481181 1658831;1748709;1749093;1750037;1750147;1767689;2120830;2144343;2149220 D4S1224;D4S1225;SHGC-110356;SHGC-110749;SHGC-111724;SHGC-112276;SHGC-44466;SHGC-67657;STS-F04957 DKFZp686D06121;DKFZp686K12169;KIAA1901;MGC138800;NY-REN-55;SRPS2;SRPS2A;SRTD6 NIMA (never in mitosis gene a)-related kinase 1;OTTHUMP00000219422;OTTHUMP00000219432;OTTHUMP00000219433;OTTHUMP00000219434;OTTHUMP00000219435;never in mitosis A-related kinase 1;nimA-related protein kinase 1;protein-serine/threonine kinase;renal carcinoma antigen NY-REN-55;serine/threonine-protein kinase Nek1 APPROVED protein-coding ENSG00000137601 HGNC:7744 06847 263520;604588 REVIEWED 1352319 NEIL3 nei endonuclease VIII-like 3 (E. coli) NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008] 4 4 4 q34.3 175558124 175611235 + 178230991 178284092 + 177309837 177362938 + 6480464;6907045;8554872 12200441;12433996;12477932;12509226;12713815;14702039;15146197;15342556;15489334;17903306;18270339;18515411;18976975;19121397;19170771;21890473;21906983;21963094;22365498;22505724;22569481;23755964;23926102;24005813;24250222 55247 D6RAV1;Q8TAT5 AB079071;ABBA01070425;ABBA01070426;AC027627;AI419161;AK001720;AK307692;AMYH02010562;AMYH02010563;BC025954;BE865481;BP380910;CH471056;CN426741;DQ310721;JB332060;NM_018248 AAH25954;ABC40719;BAA91860;BAC06479;CDH92855;EAX04716;NP_060718;Q8TAT5 Hs.405467 1710818;5024039;5037552 D16S325;D8S2279;SHGC-84154 FGP2;FLJ10858;FPG2;NEI3;ZGRF3;hFPG2;hNEI3 DNA glycosylase FPG2;DNA glycosylase hFPG2;DNA glycosylase/AP lyase Neil3;OTTHUMP00000218810;endonuclease 8-like 3;endonuclease VIII-like 3;nei-like protein 3;zinc finger, GRF-type containing 3 APPROVED protein-coding ENSG00000109674 HGNC:24573 16407 608934 VALIDATED 1350326 NEK10 NIMA-related kinase 10 ENCODES a protein that exhibits protein kinase activity; INVOLVED IN positive regulation of MAP kinase activity; positive regulation of protein autophosphorylation; protein phosphorylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN protein kinase complex; INTERACTS WITH benzo[a]pyrene; bisphenol A; copper(2+) sulfate 3 3 3 p24.1 27193380 27347291 - 27257097 27410912 - 27080151 27369421 - 6480464;8554872 12477932;14702039;15289607;19330027;20095854;20145138;20379614;20956560;21110914;21906983 152110 C9JJN0;H7C000;H7C3L8;Q6ZWH5;Q8N774 ABBA01025004;ABBA01025005;AC093555;AC098931;AC099535;AC133142;AK057247;AK098832;AK123061;AK128585;AMYH02006440;BC045758;BX537852;CH471055;DQ104438;NM_199347;XM_005264896;XM_006712994;XM_006712995;XM_006712996;XM_006712997;XM_006712998;XM_006712999;XM_006713000;XM_006713001;XM_006713002;XR_427255 AAH45758;AAZ20184;BAB71395;BAC05427;BAC85527;BAC87513;CAD97860;EAW64376;EAW64377;EAW64378;EAW64379;EAW64380;NP_955379;Q6ZWH5;XP_005264953;XP_006713057;XP_006713058;XP_006713059;XP_006713060;XP_006713061;XP_006713062;XP_006713063;XP_006713064;XP_006713065 Hs.506115;Hs.743887 1690508;1697248;1705944;1747799;2166861 G66795;RH102118;RH36414;RH92252;SHGC-79673 FLJ32685 NIMA (never in mitosis gene a)- related kinase 10;OTTHUMP00000208385;never in mitosis A-related kinase 10;nimA-related protein kinase 10;serine/threonine-protein kinase Nek10 APPROVED protein-coding ENSG00000163491 HGNC:18592 08135 VALIDATED 736612 NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase ENCODES a protein that exhibits beta-2 adrenergic receptor binding; proline-rich region binding; protein domain specific binding; INVOLVED IN cellular response to UV; development involved in symbiotic interaction; glucocorticoid receptor signaling pathway; PARTICIPATES IN vascular endothelial growth factor signaling pathway; endocytosis pathway; ubiquitin/proteasome degradation pathway; ASSOCIATED WITH Muscular Atrophy (ortholog); FOUND IN cell cortex; chromatin; cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-fluorouracil; all-trans-retinoic acid 15 15 15 q 33007634 33174352 - 56119120 56285835 - 55826917 55993746 - 1580863;2302550;6480464;6484113;6907045;7242174;8554872 17726579;19125695 10037602;10212229;10446181;10642508;10871286;11042109;11046148;11087859;11087860;11112487;11244092;11323714;11342538;11359767;11502596;11598133;11696533;11717310;11748237;11870222;11919637;11991975;12050153;12167593;12218189;12230472;12477932;12610113;12697834;12729930;12796489;12907594;12907674;14581525;14645220;14973438;15001356;15013426;15060076;15126635;15217910;15231748;15252135;15496141;15548568;15677482;15678106;15703212;16055720;16118794;16138902;16169070;16338389;16572171;16701206;16867982;16885233;17013377;17116753;17218260;17218261;17289006;17538020;17544362;17719543;17996703;18174164;18287095;18305167;18307411;18353951;18498243;18498246;18544533;18577513;18632619;18703514;18723765;18772139;18804462;18854154;19020832;19024597;19054764;19143627;19158374;19165858;19193720;19240029;19252184;19343052;19345329;19366705;19602703;19615332;19617352;19670909;19706893;19812267;19835589;19835873;19864419;19907029;19953087;20051513;20062064;20078934;20086093;20159449;20164219;20172859;20237237;20332230;20519395;20522958;20530479;20559325;20562859;20675381;20676133;20697350;20711176;20730100;20737472;20819705;20843805;20855896;20889565;21148011;21191027;21308777;21332718;21338354;21399620;21463633;21478478;21572392;21666754;21685363;21765395;21813641;21852580;21890473;21906983;21936852;21953697;21986318;21987572;22004035;22024150;22096579;22350919;22361880;22385262;22467858;22751010;22761998;22762019;22768111;22773947;22875931;22939629;22974840;22992774;23000965;23071112;23106887;23166351;23180960;23195959;23236378;23253940;23262292;23287719;23305486;23460917;23471985;23549616;23589096;23602387;23603909;23639431;23644597;23665454;23686771;23827681;23964096;24063548;24107629;24141722;24292274;24340059;24379409;24413081;24496234;24614057;24657926;24662824;24743017;24816145;24831002;25092867;7788527;8649367;9073511;9182527;9305852;9351815;9405440;9525617;9593687;9990509 4734 H0Y8H4;H0Y8X6;H0Y9L1;H0YA37;P46934 ABBA01039013;ABBA01039014;ABBA01039015;AC009997;AC039057;AK304394;AK307541;AL832063;AL832359;AL833293;AL833300;AMYH02030495;AMYH02030496;AMYH02030497;AMYH02030498;AMYH02030499;AMYH02030500;AY550969;BC035707;BC047035;BC136605;BC144284;BC144285;BC152452;BC152562;CH471082;D42055;DB451823;NM_001284338;NM_001284339;NM_001284340;NM_006154;NM_198400;NR_104302;XR_243101 AAI36606;AAI44285;AAI44286;AAI52453;AAI52563;AAT52215;ACE87832;ACT64356;BAA07655;BAG65229;EAW77495;EAW77496;EAW77497;NP_001271267;NP_001271268;NP_001271269;NP_006145;NP_940682;P46934 Hs.1565 1655913;1662333;1663403;1768519;2121301;2173968;2191305;2218790 D15S1324;MARC_17217-17218:1023895765:1;NEDD4_4021;RH25321;RH44970;SHGC-31455;STS-D42055;WI-22810 KIAA0093;MGC176705;NEDD-4;NEDD4-1;RPF1 E3 ubiquitin-protein ligase NEDD4;OTTHUMP00000162878;OTTHUMP00000217840;OTTHUMP00000217841;OTTHUMP00000217842;OTTHUMP00000217844;cell proliferation-inducing gene 53 protein;neural precursor cell expressed developmentally down-regulated protein 4;neural precursor cell expressed, developmentally down-regulated gene 4a;receptor-potentiating factor 1 APPROVED protein-coding ENSG00000069869 HGNC:7727 03786 602278 VALIDATED 1345015 NEK2P1 NEK2 pseudogene 1 14 14 q11.2 20097140 20099257 + 18888449 18890566 - 326302 AL512310;AL929601;AMYH02028807;NG_002554 NEK2P APPROVED pseudo HGNC:19272 INFERRED 1314803 NEDD9 neural precursor cell expressed, developmentally down-regulated 9 The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 6 6 6 p25-p24 12411994 12611049 - 11183531 11382581 - 11183298 11382348 - 6480464 10455189;10490968;10502414;10508479;10692442;10808124;10866674;11054566;11118211;11438665;11782456;11827972;12189134;12477932;12517963;12522270;12847683;15051726;15144186;15144564;15231748;15342556;15376324;15489334;15592516;16184168;16344118;16344560;16352661;16394104;17604723;17703068;17908996;18063669;18465784;18579580;18585997;18624398;19103205;19275884;19417561;19539609;19648964;20068165;20379614;20413850;20428794;20430066;20498643;20534741;21059344;21139048;21145356;21317929;21399483;21765937;21829474;21832049;21906983;22061964;22174851;22328516;22447485;22732573;22810897;22869051;22963925;23037767;23074285;23086683;23247867;23355420;24058594;24174333;24202705;24439227;24469954;24664584;24676793;24728978;8668148;8879209;9020138;9162067;9295052;9360983;9366405;9405482;9497377;9498705;9584194;9748319;9820532 4739 D6RBQ2;D6RDV1;D6REP7;D6RGD7;Q14511 AA814628;ABBA01022100;ABBA01022101;AJ420493;AK292682;AL022098;AL136139;AL139807;AL512382;AMYH02013103;AMYH02013104;AMYH02013105;AW963532;BC020686;BC040207;BC050740;BP262776;BX648041;CH471087;DA660812;DA676780;DA778416;L43821;NM_001142393;NM_001271033;NM_006403;NM_182966;NR_073131;U64317 AAA98770;AAB53696;AAH20686;AAH40207;ABM82651;ABM85828;ACE87009;ACE87697;BAF85371;EAW55299;EAW55300;EAW55301;EAW55302;EAW55303;NP_001135865;NP_001257962;NP_006394;NP_892011;Q14511 Hs.37982 1664134;1666830;1680613;1696696;1700828;1722327;1727057;1853137;1853545;1855495;2116280;2116876;2146932;2148052;2158779;2160928;2160930;2171701;2173731;2177613;2180273;2187325;2187434;5123863;7186686 043XF2;A002S01;AL020974;D6S1194E;D6S1863;D6S1979;D6S2064;D6S2068;G30970;G60230;G62928;RH104039;RH15834;RH16235;RH46700;RH46787;RH67987;RH69676;RH98262;SGC34351;SHGC-33201;SHGC-34846;SHGC-83040;WI-13606 CAS-L;CAS2;CASL;CASS2;HEF1;NEDD-9;dJ49G10.2;dJ761I2.1;p105 CRK-associated substrate-related protein;Cas scaffolding protein family member 2;Crk-associated substrate related;Crk-associated substrate related protein Cas-L;Enhancer of filamentation 1 p55;OTTHUMP00000016030;OTTHUMP00000016031;OTTHUMP00000016032;OTTHUMP00000221385;cas-like docking;dJ49G10.2 (Enhancer of Filamentation 1 (HEF1));dJ761I2.1 (enhancer of filamentation (HEF1));enhancer of filamentation 1;neural precursor cell expressed developmentally down-regulated protein 9;p130Cas-related protein;renal carcinoma antigen NY-REN-12 APPROVED protein-coding ENSG00000111859 HGNC:7733 11888 602265 REVIEWED 2859133 NEK2P2 NEK2 pseudogene 2 22 22 q11.1 16364867 16366204 + 15611759 15613096 - 100379667 ABBA01013152;AP000532;NG_016726 pseudo HGNC:37816 INFERRED 3077625 NEK2P3 NEK2 pseudogene 3 14 14 q11.1 19474481 19476597 - 18698004 18700120 - 100158258 ABBA01007685;AMYH02028781;CR383656;NG_007923 pseudo HGNC:37817 INFERRED 3322039 NEK2P4 NEK2 pseudogene 4 2 2 2 q21.1 124641053 124642381 + 131935191 131936519 - 131177618 131178946 - 100381202 ABBA01004563;AC009477;AMYH02004806;NG_016766 pseudo HGNC:37818 INFERRED 5128963 NEK4P1 NIMA-related kinase 4 pseudogene 1 21 21 21 3752956 3753844 - 18582786 18583674 - 17210468 17211356 - 100421718 ABBA01057108;AMYH02037554;AP000457;NG_025027 APPROVED pseudo HGNC:39649 INFERRED 1318782 NEK11 NIMA-related kinase 11 This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009] 3 3 3 q22.1 129170940 129494974 + 130745694 131069309 + 131026850 131350465 + 6480464;8554872 12154088;12477932;12742165;14702039;15161910;15489334;18029348;18519826;19734889;20090422;20379614;21832049;21988832;22939624;8889548 79858 B4DDN2;B4DM56;D6RGV6;D6RJF7;E9PHI8;Q8NG66 AB071996;AB071997;ABBA01059195;ABBA01059196;ABBA01059197;ABBA01059198;AC010210;AC055733;AC083908;AC116424;AC121332;AK027148;AK123021;AK293261;AK297300;AK316352;AL833472;AMYH02007663;AMYH02007664;AMYH02007665;AMYH02007666;AMYH02007667;AMYH02007668;AMYH02007669;BC009414;BC026195;BC028587;BU674219;BX328072;CH471052;NG_029225;NM_001146003;NM_024800;NM_145910;XM_005247783;XM_005247785;XM_006713749;XM_006713750;XM_006713751 AAH28587;BAB15672;BAC06350;BAC06351;BAG56793;BAG59768;BAH14723;CAI46114;EAW79212;EAW79213;NP_001139475;NP_079076;NP_665917;Q8NG66;XP_005247840;XP_005247842;XP_006713812;XP_006713813;XP_006713814 Hs.657336 1342157;1759091;1760319;2123875;2128868;2159937;7187851 D3S1587;RH46449;RH77838;SGC38075;SHGC-141247;SHGC-150601 FLJ23495 NIMA (never in mitosis gene a)- related kinase 11;OTTHUMP00000216112;OTTHUMP00000216137;OTTHUMP00000216138;OTTHUMP00000216139;OTTHUMP00000216140;OTTHUMP00000216604;never in mitosis A-related kinase 11;nimA-related protein kinase 11;serine/threonine-protein kinase Nek11 APPROVED protein-coding ENSG00000114670 HGNC:18593 14821 609779 REVIEWED 1312757 NEK4 NIMA-related kinase 4 ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN metabolic process (inferred); mitotic nuclear division (inferred); protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,3-dimethoxynaphthalene-1,4-dione 3 3 3 p21.1 52723506 52783686 - 52744796 52804965 - 52710780 52770949 - 1580863;6480464;8554872 12477932;16344560;18029348;19416921;20103636;20734064;20800603;21685204;21926972;22851694;23974872;24250222;24255178;601959;8208544;9552363 6787 E7EX48;F8WAX1;H7C5M0;P51957;Q05DF6 ABBA01024498;ABBA01024499;AC006254;AC104446;AI860526;AK294165;AK312420;AMYH02006814;AMYH02006815;BC015515;BC063044;CH471055;DB073127;EF560744;KJ592714;L20321;NM_001193533;NM_003157;XM_006713310 AAA36658;AAH15515;AAH63044;ABQ59054;AHZ86932;BAG35330;BAH11686;EAW65258;NP_001180462;NP_003148;P51957;XP_006713373 Hs.631921 1698540;1737555;2152130 D3S3128;RH102821;SHGC-77006 MGC33171;NRK2;STK2;pp12301 NIMA (never in mitosis gene a)-related kinase 4;OTTHUMP00000213580;OTTHUMP00000213581;OTTHUMP00000213582;never in mitosis A-related kinase 4;nimA-related protein kinase 4;serine/threonine kinase 2;serine/threonine protein kinase-2;serine/threonine-protein kinase 2;serine/threonine-protein kinase NRK2;serine/threonine-protein kinase Nek4;serine/threonine-protein kinase Nek4 variant 2 APPROVED protein-coding HGNC:11399 11880 601959 VALIDATED 5128960 NEK4P2 NIMA-related kinase 4 pseudogene 2 17 17 17 16472314 16473322 - 16569419 16570427 - 16666105 16667113 - 100421734 ABBA01035647;AC098850;AMYH02033081;NG_026146 APPROVED pseudo HGNC:39650 INFERRED 5128961 NEK4P3 NIMA-related kinase 4 pseudogene 3 10 10 10 60082989 60083940 + 66813813 66814764 + 65054055 65055006 + 100421728 ABBA01019521;AL590411;AMYH02023216;NG_025511 APPROVED pseudo HGNC:39651 INFERRED 1314485 NEIL1 nei endonuclease VIII-like 1 (E. coli) This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 15 15 15 q24.2 52565769 52574027 + 75639331 75647592 + 75346990 75355251 + 1580863;6480464;6907045;8554872 11904416;12200441;12433996;12477932;12509226;14522990;14702039;14734554;15159582;15232006;15260972;15319300;15350146;15489334;15533839;16118226;16344560;16446124;17029639;17150535;17348689;17395641;17432829;17556049;17611195;18032376;18155253;18515411;18543945;18594018;18662981;19047128;19179336;19258314;19443904;19840299;20005182;20099873;20338831;20346739;20496165;20522537;21068368;21131780;21697813;21832049;21985917;22170059;22286769;22465744;22623531;22639086;22858590;22902625;23104860;23508956;23542007;23898192;23926102;24022861;24382305 79661 H3BM98;H3BN83;H3BQE8;H3BQU8;H3BRZ2;H3BST2;H3BSZ5;H3BT75;H3BT94;H3BTX5;H3BU98;Q96FI4 AB079068;ABBA01060521;ABBA01060522;AC068338;AK026055;AK026216;AK097008;AK128372;AMYH02030814;AY257544;BC010876;CH471136;DB282730;NM_001256552;NM_024608;NR_046311;XM_005254659;XM_006720677;XM_006720678;XM_006720679;XM_006720680;XM_006720681;XM_006720682;XR_243127;XR_429471;XR_429472 AAH10876;AAO74826;ABM82356;ABM85531;BAB15337;BAC06476;EAW99255;EAW99256;EAW99257;EAW99258;EAW99259;EAW99260;NP_001243481;NP_078884;Q96FI4;XP_005254716;XP_006720740;XP_006720741;XP_006720742;XP_006720743;XP_006720744;XP_006720745 Hs.512732 1646966 WI-12510 FLJ22402;FPG1;NEH1;NEI1;hFPG1 DNA glycosylase/AP lyase Neil1;DNA-(apurinic or apyrimidinic site) lyase Neil1;OTTHUMP00000183482;endonuclease 8-like 1;endonuclease VIII;endonuclease VIII-like 1;nei homolog 1;nei-like protein 1 APPROVED protein-coding ENSG00000140398 HGNC:18448 12314 608844 VALIDATED 1344374 NEK5 NIMA-related kinase 5 ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN positive regulation of cysteine-type endopeptidase activity (inferred); positive regulation of striated muscle cell differentiation (inferred); protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH choline (ortholog); folic acid (ortholog); L-methionine (ortholog) 13 13 13 q14.3 33687535 33751861 - 52638898 52703214 - 52064762 52129078 - 6480464;8554872 12477932;15057823;15489334;9552363 341676 E9PIX7;Q6P3R8 ABBA01051056;ABBA01051057;ABBA01051058;AK126330;AL139082;AMYH02028041;BC063885;NM_199289;XM_006719807;XM_006719808;XM_006719809 AAH63885;NP_954983;Q6P3R8;XP_006719870;XP_006719871;XP_006719872 Hs.672144 1730576;2111146;2111728;5020948 D13S133;D13S1630;D13S296;G35510 MGC75495 NIMA (never in mitosis gene a)-related kinase 5;OTTHUMP00000018442;never in mitosis A-related kinase 5;nimA-related protein kinase 5;serine/threonine-protein kinase Nek5 APPROVED protein-coding ENSG00000197168 HGNC:7748 PROVISIONAL 1316605 NEK3 NIMA-related kinase 3 This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] 13 13 13 q14.13 33755426 33782643 - 52706779 52733996 - 52132643 52159861 - 1580863;6480464;8554872 10224116;12063396;12477932;15345747;15489334;15618286;16344560;17118778;17297458;20379614;21756249;21988832;23703321;7522034;8274451;8889548 4752 F8VTT4;F8VV00;G3V202;P51956;Q6ZN64 AB072828;ABBA01051058;ABBA01051059;AI026881;AI209040;AK131359;AK290259;AL139082;AL833951;AMYH02028041;AW364762;BC019916;BM675414;BM984985;BQ648157;BX395059;CH471075;CV029372;DA407862;DA733733;DB185803;H15146;KF459684;NM_001146099;NM_002498;NM_152720;NR_027415;Z25434;Z29067 AAH19916;ABM82729;ABM85913;BAC15599;BAD18511;BAF82948;CAA80921;CAA82310;CAI46210;EAX08905;EAX08906;EAX08907;EAX08908;EAX08909;NP_001139571;NP_002489;NP_689933;P51956 Hs.409989 1694574;1721479;1779074;2111148;5014053 D13S297;D1S3693;G43267;G59593;RH68007 HSPK36;MGC29949 HSPK 36;NIMA (never in mitosis gene a)-related kinase 3;OTTHUMP00000018443;OTTHUMP00000018444;OTTHUMP00000243364;OTTHUMP00000243401;OTTHUMP00000243402;glycogen synthase A kinase;hydroxyalkyl-protein kinase;never in mitosis A-related kinase 3;nimA-related protein kinase 3;phosphorylase B kinase kinase;serine/threonine-protein kinase Nek3 APPROVED protein-coding ENSG00000136098 HGNC:7746 04954 604044 REVIEWED 732517 NEK2 NIMA-related kinase 2 This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011] 1 1 1 q32.3 185063198 185076042 - 211831598 211848972 - 211658256 211675630 - 1580863;6480464;8699517;7240710 10347187;10645953;10880350;11076968;11742531;11742988;11785960;12221103;12221128;12386167;12477932;12852856;12857871;14978040;15147269;15161910;15252450;15311285;15358203;15387139;15489334;15492258;15659651;15659832;15950749;16084011;16157594;16280549;16462731;16648845;16710414;17197699;17283141;17535851;17621308;17626005;18086858;18297113;19008095;19038001;19123481;20360068;20508983;20581865;20599736;20718755;20734064;21076410;21139048;21382349;21669869;21723128;21832156;21890473;21900206;21906983;21963094;22014044;22234886;22321011;22613497;22623531;22824957;22879911;23001753;23080069;23160376;23288039;23291182;23340795;23370767;23383273;23443559;23708664;23776583;24043777;24046120;24091727;24163369;24214971;24250222;24337664;24389189;24447338;24501426;24763826;7522034;7790358;8125298;8274451;9295362;9430639;9647649 4751 B4DZU0;P51955 ABBA01048189;AC096637;AK223353;AK225522;AK303092;AL356310;AMYH02002628;AMYH02002629;AY045701;AY863109;BC043502;BC052807;BC065932;BT019729;BU517064;CH471100;DC407297;DQ786247;DQ786281;NG_029112;NM_001204182;NM_001204183;NM_002497;U11050;XM_005273147;Z25425;Z29066 AAA19558;AAH43502;AAH52807;AAH65932;AAK92212;AAV38534;AAW56418;BAD97073;BAG64202;CAA80912;CAA82309;EAW93410;EAW93411;NP_001191111;NP_001191112;NP_002488;P51955;XP_005273204 Hs.153704 1664142;1676604;2141534;2219986;5016781;5020403;5022578;5037552 D14S1215;D1S1423;D8S2279;NEK2__6227;RH68293;RH92597;SHGC-67307;SHGC-76300 HsPK21;NEK2A;NLK1;PPP1R111;RP67 NIMA (never in mitosis gene a)-related kinase 2;OTTHUMP00000035216;OTTHUMP00000035217;never in mitosis A-related kinase 2;nimA-like protein kinase 1;nimA-related protein kinase 2;serine/threonine-protein kinase Nek2 APPROVED protein-coding ENSG00000117650 HGNC:7745 04953 604043;615565 REVIEWED 1322471 NEK7 NIMA-related kinase 7 NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002] 1 1 1 q31.3 171248701 171414114 + 198126108 198291550 + 198156978 198322420 + 1580863;6480464;8554872 10964517;11701951;12840024;17101132;17353931;17586473;17727698;19414596;19454010;19941817;20056645;20508983;20562859;21139048;21642957;21890473;22100915;22505724;23000965;23313050;23359173;23821772;24816145 140609 B2R8K8;C9J1H8;F5H3U7;F8WAG2;Q8TDX7 AB062450;ABBA01027579;ABBA01027580;AC093419;AC093561;AK313411;AL080111;AMYH02002442;AMYH02002443;BC043003;CH471067;DB498485;NM_133494 AAI52873;AAI56617;BAB85632;BAG36205;EAW91293;EAW91294;EAW91295;EAW91296;NP_598001;Q8TDX7 Hs.24119;Hs.745083 1338733;1652100;1656750;1657015;1659601;1663758;1678391;1716739;1716779;1726437;1735954;1755781;1846769;2150381;5093790;5121314 A009W39;AL009615;D1S2432;D1S2491;D1S2840;DXS6982E;G32925;G62598;RH121661;RH121684;RH46583;RH68457;SGC38295;SHGC-142623;SHGC-76107;WI-17822 NIMA (never in mitosis gene a)-related kinase 7;OTTHUMP00000033680;OTTHUMP00000238689;never in mitosis A-related kinase 7;nimA-related protein kinase 7;serine/threonine-protein kinase Nek7 APPROVED protein-coding ENSG00000151414 HGNC:13386 06027 606848 VALIDATED 1344973 NELFE negative elongation factor complex member E The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33519627 33526530 - 31919864 31926864 - 31952087 31959087 - 1580863;6480464;8554872 10072631;10199401;11112772;11940650;12477932;12612062;12676794;14574404;14656967;14667819;15302935;15342491;15489334;15561718;16169070;16838299;16880520;16898873;16964243;17081983;17353931;17442680;17499042;17643375;18029348;18303858;18562274;19115949;19143814;19245807;19556007;19615732;19851445;20097260;20305087;20471948;21139048;2119325;21890473;22412018;22614758;22740393;23577725;23602568;24453987;24636995;24816145;2612324;3353717;8373374;9264031;9776767;9799600 7936 A2ABK4;E7ENC7;E7EWR7;E9PD43;P18615 ABBA01038099;AF019413;AK300717;AK300898;AK302652;AK303152;AL049547;AL645922;AL662849;AL844853;AMYH02013456;BC025235;BC050617;BU935034;BX005143;CD579634;CH471081;CR388219;CR753845;CR759782;JQ313904;L03411;M32274;M32275;M32276;M33230;M33231;NM_002904;U37117;X16105;XM_006715205;XM_006725521;XM_006725739;XM_006725936;XM_006726037;XM_006726125 AAA36308;AAB67979;AAC37523;AAH25235;AAH50617;AAK29466;ABM87846;AFH41798;BAG62393;BAG63891;BAG64255;BAH13370;CAA34231;CAB89308;EAX03551;EAX03552;EAX03553;NP_002895;P18615;XP_006715268;XP_006725584;XP_006725802;XP_006725999;XP_006726100;XP_006726188 Hs.423935 1730059;1775756;2108419;2128137;2137638 D6S45;RDBP_8772;RH46865;RH70616;SHGC-12705 D6S45;NELF-E;RD;RDBP;RDP OTTHUMP00000029051;OTTHUMP00000174687;OTTHUMP00000174689;OTTHUMP00000174710;OTTHUMP00000215985;OTTHUMP00000215986;RD RNA binding protein;RD RNA-binding protein;RNA-binding protein RD;major histocompatibility complex gene RD;negative elongation factor E;negative elongation factor polypeptide E;nuclear protein APPROVED protein-coding ENSG00000204356 HGNC:13974 01096 154040 REVIEWED 1316228 NEK9 NIMA-related kinase 9 ENCODES a protein that exhibits protein kinase binding; protein serine/threonine kinase activity; INVOLVED IN mitotic cell cycle (inferred); mitotic nuclear division (inferred); mitotic nuclear envelope disassembly (inferred); FOUND IN cytosol (inferred); nucleus (inferred); INTERACTS WITH 5-fluorouracil; cobalt dichloride; copper(2+) sulfate 14 14 14 q24.3 55586461 55631402 - 75548818 75593778 - 75082115 75127075 - 6480464 11864968;12056414;12101123;12477932;12508121;12840024;14660563;15019993;15489334;16902406;17081983;17192257;17314511;17353931;17443675;18029348;18976975;19001501;19941817;20360068;20508983;20562859;20873783;21139048;21454704;21642957;21735226;21890473;21906983;22818914;22863883;22939624;23482567;23665325;24147044;24816145;8889548 91754 G3V2Z5;G3V459;G3V5V0;G3V5V6;Q6PKF2;Q8TD19 AB082526;ABBA01030707;AC007055;AK128693;AL049780;AL117502;AL832633;AL833036;AMYH02029530;AY048580;AY080896;BC001714;BC009336;BC093881;BC112101;BM976692;CH471061;DB455229;NM_033116;XM_005268208;XM_005268209;XM_006720303 AAD31936;AAD31938;AAD31939;AAD31940;AAH01714;AAH09336;AAH93881;AAI12102;AAL05428;AAL87410;BAC02704;BAG54712;EAW81220;EAW81221;EAW81222;NP_149107;Q8TD19;XP_005268265;XP_005268266;XP_006720366 Hs.7200 1653853;1678989;1740669;1767117;2117294;5015881;5037552 D14S1275;D14S860;D8S2279;G35839;GDB:335751;RH93908;STS-AA027231 DKFZp434D0935;MGC138306;MGC16714;NERCC;NERCC1;Nek8 NIMA (never in mitosis gene a)- related kinase 9;NIMA-related kinase Nek8;OTTHUMP00000246810;nercc1 kinase;never in mitosis A-related kinase 9;nimA-related kinase 8;nimA-related protein kinase 9;serine/threonine-protein kinase Nek9 APPROVED protein-coding HGNC:18591 11386 609798 VALIDATED 1315774 NEK8 NIMA-related kinase 8 This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008] 17 17 17 q11.1 23914995 23928979 + 27055822 27069784 + 28728814 28742766 + 1580863;6480464;8699517;7240710;8554872 11864968;12477932;15019993;15489334;15761153;15872312;17474147;18199800;19066617;20301743;21068128;22106379;22939624;23026745;23314748;23418306;23793029;23973373;24250222 284086 K7EL04;K7EMF0;K7END4;K7EPD3;Q86SG6 ABBA01015047;ABBA01015048;AC010761;AK301429;AL833909;AMYH02033227;AMYH02033228;AY242354;AY267371;BC112240;BC113705;CH471159;NG_012263;NM_178170;XR_429883 AAI12241;AAI13706;AAO88243;AAP04006;ADR83101;BAG62957;CAD38765;EAW51135;EAW51136;EAW51137;NP_835464;Q86SG6 Hs.448468 5037552 D8S2279 JCK;MGC138445;NEK12A;NPHP9;RHPD2 NIMA (never in mitosis gene a)- related kinase 8;NIMA-family kinase NEK8;NIMA-related kinase 12a;nephrocystin 9;never in mitosis A-related kinase 8;nimA-related protein kinase 8;nima-related protein kinase 12a;serine/threonine-protein kinase Nek8;serine/thrionine-protein kinase NEK8 APPROVED protein-coding HGNC:13387 14822 609799;613824;615415 REVIEWED 1347059 NEK6 NIMA-related kinase 6 The protein encoded by this gene is a kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 9 q33.3-q34.11 97667169 97761958 + 127019885 127114721 + 124257606 124352442 + 1580863;6480464 10191262;10702691;10964517;11516946;11701951;12023960;12054534;12101123;12477932;12761501;12840024;14563848;15342556;15489334;15761153;16189514;16280549;16344560;16476580;17353931;17512906;18728393;19001501;19414596;20125193;20379614;20407017;20595392;20677014;20873783;21099361;21320329;21454704;21539811;21642957;21725899;21890473;21988832;22939629;23416273 10783 Q5TBG1;Q5TBG2;Q5TBG4;Q5TBG7;Q5TBH0;Q5TBH1;Q5TBH2;Q9HC98 AB026289;ABBA01043744;AF087909;AJ420460;AK294614;AK313071;AL137846;AL162724;AMYH02021625;AMYH02021626;BC000101;BC004174;BC004209;BC012761;BM083872;BP219389;BP265230;BP279761;CF994196;CH471090;CR457091;CR542222;DB350175;NM_001145001;NM_001166167;NM_001166168;NM_001166169;NM_001166170;NM_001166171;NM_014397;XM_005251664;XM_006716934;XM_006716935;XM_006716936 AAG13417;AAH00101;AAH04174;AAH04209;AAH12761;BAA85045;BAG35899;BAH11825;CAG33372;CAG47018;EAW87578;EAW87579;EAW87580;EAW87581;NP_001138473;NP_001159639;NP_001159640;NP_001159641;NP_001159642;NP_001159643;NP_055212;Q9HC98;XP_005251721;XP_006716997;XP_006716998;XP_006716999 Hs.197071 1643979;1667033;1715281;1787074;2167111;2172202;2175049;2183865;2183867 A006A17;G20648;RH11482;RH11599;RH119892;RH12239;RH77983;SGC33089;SHGC-154753 SID6-1512 NIMA (never in mitosis gene a)-related kinase 6;OTTHUMP00000022094;OTTHUMP00000022095;OTTHUMP00000022096;OTTHUMP00000022097;OTTHUMP00000022098;OTTHUMP00000022099;OTTHUMP00000022100;OTTHUMP00000022101;never in mitosis A-related kinase 6;nimA-related protein kinase 6;protein kinase SID6-1512;putative serine-threonine protein kinase;serine/threonine-protein kinase Nek6 APPROVED protein-coding ENSG00000119408 HGNC:7749 05348 604884 REVIEWED 1603677 NELFB negative elongation factor complex member B NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] 9 9 9 q34 110665618 110683794 + 140149759 140168000 + 137255307 137273548 + 6480464 10199401;10574461;11076863;11112772;11230166;11256614;11739404;11940650;12477932;12612062;12676794;14667819;14702039;15185750;15302935;15342491;15489334;15489336;15530430;16344560;16381901;16452188;16838299;16964243;17353931;17442680;17474147;17499042;17659869;17910036;18029348;18071589;18562274;19245807;20195357;20211142;20305087;20467438;21139048;21890473;21900206;21906983;21963094;22863883;23518577;24097989;24250222;24255178;24816145 25920 Q8WX92 AB033008;ABBA01022752;AF464935;AK022651;AK091056;AL050280;AMYH02021928;BC011892;BC019029;BX255925;CH471090;DA210427;NM_015456 AAH11892;AAL69965;BAA86496;BAB14157;BAG52272;CAB43381;CAL38167;EAW88377;EAW88378;NP_056271;Q8WX92 Hs.521809 COBRA1;DKFZp586B0519;KIAA1182;NELF-B;RP13-122B23.3 OTTHUMP00000162585;cofactor of BRCA1;negative elongation factor B;negative elongation factor protein B APPROVED protein-coding ENSG00000188986 HGNC:24324 10845 611180 VALIDATED 1343844 NEM1 nemaline myopathy 1, autosomal dominant ASSOCIATED WITH MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (inferred); Nemaline myopathy 1 (inferred); Nemaline myopathy 3 (inferred) 7240710 4754 HGNC:7752 161800;255310;609284 1313651 NELFA negative elongation factor complex member A This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 1896671 1923194 - 1984441 2010962 - 1982714 2009235 - 1580863;6480464;8554872 10199401;10409432;11112772;11150502;11280764;11387440;11940650;12477932;12563561;12612062;12676794;12715353;14702039;15302935;15489334;16344560;16838299;16964243;17081983;17442680;17499042;17643375;18562274;19245807;19471022;20305087;20379614;21139048;21832049;21890473;22328085;23518577;24097989;24163370;24255178;24816145;8125298;8619474;9063753;9110174 7469 B3KSP0;C9JEM7;C9JHL4;F8W954;F8WF98;H0Y3X6;H7C0W2;H7C2C7;H7C2M8;H7C3C2;Q9H3P2 AB044549;ABBA01029524;AF101434;AF131751;AI218582;AI560345;AK001304;AK094040;AK095737;AK126056;AK222853;AL132868;AMYH02008596;BC002764;CH471131;DB082393;NG_009232;NM_005663;XM_006713916;XM_006713917 AAC72982;AAD20034;AAH02764;ACE86425;ACE87100;BAB18651;BAD96573;BAG50890;BAG52802;BAG53117;BAG54283;EAW82545;EAW82546;EAW82547;NP_005654;Q9H3P2;XP_006713979;XP_006713980 Hs.21771 1777033;2108999;2148682;2183477;2183479 A005A46;G20233;SHGC-59825;SHGC-67592;WHSC2_8727 FLJ10442;FLJ25112;NELF-A;P/OKcl.15;WHSC2 OTTHUMP00000114626;OTTHUMP00000211580;negative elongation factor A;wolf-Hirschhorn syndrome candidate 2 protein APPROVED protein-coding ENSG00000185049 HGNC:12768 12080 606026 REVIEWED 733264 NELL1 NEL-like 1 (chicken) This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 11 11 11 p15.1 20823987 21729999 + 20691117 21597232 + 20669551 21575686 + 1580863;633405;6480464;8554872 12235118 10231576;10548494;11803583;12477932;14659887;14702039;15124103;15489334;16344560;16713569;17042739;17452981;17684544;18082140;18519826;18987618;19174780;19422935;19913121;20200953;20379614;20628086;20647499;20800603;20959151;21078624;21472827;21615216;21723284;21902605;21931789;22264144;22379998;22495925;22580275;22767336;22797704;22823124;22952603;23017834;23251661;23400010;24324551;24335144;7757816;8975702;9893069 4745 B3KXR2;F5H6I3;J3KNC5;K9UUD5;Q92832 AA971151;AB085898;ABBA01061018;ABBA01061019;ABBA01061020;ABBA01061021;ABBA01061022;ABBA01061023;ABBA01061024;ABBA01061025;ABBA01061026;AC010811;AC067794;AC069575;AC087279;AC090707;AC090857;AC099730;AC105190;AC108460;AK093338;AK127805;AK299558;AK303736;AK313445;AMYH02024415;AMYH02024416;AMYH02024417;AMYH02024418;AMYH02024419;AMYH02024420;AMYH02024421;AMYH02024422;AMYH02024423;AMYH02024424;AMYH02024425;AMYH02024426;BC069674;BC096100;BC096101;BC096102;BC096103;BX112939;BX476569;CH471064;CQ840941;D83017;DA165320;DB327365;H10041;JX565026;KF455349;NM_001288713;NM_001288714;NM_006157;NM_201551;U57523 AAB06946;AAH69674;AAH96100;AAH96101;AAH96102;AAH96103;AFY98543;BAA11680;BAC04136;BAC22636;BAG36234;BAG54574;BAG61502;BAG64709;CAH05708;EAW68326;EAW68327;EAW68328;NP_001275642;NP_001275643;NP_006148;NP_963845;Q92832 Hs.657172 1655889;1680930;1707020;1717433;1717779;1721109;1724215;1724217;1731523;1737641;1737905;1738021;1738079;1748707;1748711;1753101;1753307;1755413;1761985;1763835;1764417;1780038;1782454;1787638;1855797;1856942;2130831;2137527;2139639;2174755;5016444;5127609 A006T21;D11S1114;D11S1246;D11S3241;D11S3509;D11S3635;D11S3703;D11S4002;D11S4027;D11S4028;D11S4434;G31103;G59539;L18001;RH121244;RH121245;RH121799;RH122207;RH36082;RH98598;SHGC-110355;SHGC-110357;SHGC-142292;SHGC-145911;SHGC-147500;SHGC-148001;SHGC-154293;SHGC-155490;SHGC-156005;SHGC-68638;SHGC-81017;SHGC-81836 FLJ45906;IDH3GL;NRP1 NEL-like protein 1;NELL-1 protein short isoform;OTTHUMP00000231785;OTTHUMP00000231786;OTTHUMP00000231787;isocitrate dehydrogenase 3 (NAD+) gamma-like;nel-related protein 1;neural epidermal growth factor-like 1;protein kinase C-binding protein NELL1 APPROVED protein-coding ENSG00000165973 HGNC:7750 09081 602319 REVIEWED 1346942 NELFCD negative elongation factor complex member C/D The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008] 20 20 20 q13 54296740 54310603 + 57556263 57570400 + 58981208 58995133 + 6480464 10199401;11030415;11042152;11112772;11780052;11874472;11952167;12477932;12612062;12620389;12676794;14684750;14702039;15231748;15489334;16169070;16838299;17131388;17353931;17442680;17499042;17621989;18562274;19136554;19245807;19471022;19673036;19946888;20028984;20069563;20305087;20735431;21078624;21139048;21693764;21890473;21906983;21963094;21988832;22238675;23000965;23455924;23518577;23753411;24250222;24816145;8889548 51497 H0UI80;Q8IXH7;X6RLT1 AA831111;ABBA01005967;AF161479;AJ238374;AJ238375;AJ238376;AJ238379;AK001316;AK023310;AK023927;AK127431;AK293410;AK304310;AL109840;AMYH02037378;AMYH02037379;BC014952;BI459250;BM974193;BQ022435;BX647417;CH471077;HY015074;NM_198976;XR_244142 AAF29094;AAH14952;ADZ15928;BAA91618;BAB14519;BAB14729;BAG56917;BAG65163;CAB64337;CAB64339;CAB64373;EAW75451;EAW75452;EAW75453;EAW75454;EAW75455;EAW75456;NP_945327;Q8IXH7 Hs.517148 2109945;2117088;2140488;2143297;2150856;5017829 A004R34;AL031482;RH48060;SHGC-31778;TH1L;TH1L_9726 HSPC130;NELF-C;NELF-D;TH1;TH1L NELF-C/D;OTTHUMP00000031412;OTTHUMP00000031415;TH1 drosophila homolog;TH1-like protein;negative elongation factor C/D;negative elongation factor proteins C and D;trihydrophobin 1 APPROVED protein-coding ENSG00000101158 HGNC:15934 16096 605297 REVIEWED 1603399 NENF neudesin neurotrophic factor This gene encodes a neurotrophic factor that may play a role in neuron differentiation and development. A pseudogene of this gene is found on chromosome 12. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2009] 1 1 1 q32.3 185831945 185845437 + 212606229 212619721 + 212432887 212446379 + 6480464 12477932;15489334;15605373;18056703;21890473;22939629;8125298;9771976 29937 Q9UMX5 AB126219;ABBA01048174;ABBA01048175;AC092803;AF000267;AF049672;AF173937;AK074431;AK223135;AMYH02002642;AY762102;BC008823;CH471100;DB502983;DB574171;NM_013349;NR_026598 AAD51419;AAH08823;AAX07829;BAD72063;BAD96855;EAW93389;NP_037481;Q9UMX5 Hs.461787 1337436;1674431;1712232;1759385;1854200;2126766 D1S505;G54024;SHGC-150586;SHGC-1592;SHGC-76309;STS-H56163 CIR2;SCIRP10;SPUF OTTHUMP00000034886;SCIRP10-related protein;Spinal cord injury related protein 10;cell growth-inhibiting protein 47;cell immortalization-related protein 2;neudesin;neuron-derived neurotrophic factor;secreted protein of unknown function APPROVED protein-coding ENSG00000117691 HGNC:30384 11603 611874 REVIEWED 733424 NEO1 neogenin 1 This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 15 15 15 q22.3-q23 50287439 50476112 + 73344056 73597547 + 73051715 73305206 + 1580863;6480464;8554872 10366627;12477932;12636918;12833147;15258591;15489334;15494733;15520228;15923648;16075058;16244667;16324219;16335952;18029348;18287331;18326817;18391016;18445598;18583991;19322201;19564337;19570425;20237496;20575069;20971194;21139048;21149453;21890473;22396795;22666451;22705235;22893705;23744777;23775842;24657544;8861902;9121761;9169140 4756 Q59FP8;Q92859 AB209412;ABBA01038713;ABBA01038714;ABBA01038715;AC068397;AC104420;AC129980;AL355708;AL359597;AL390182;AMYH02030769;AMYH02030770;AMYH02030771;AMYH02030772;BC117161;BC143270;BC143271;BC143279;BM564445;CH471082;DB458571;DB478373;NG_016965;NM_001172623;NM_001172624;NM_002499;U61262;U72391;XM_005254408;XM_005254410;XM_005254411;XM_005254412;XM_005254413;XM_005254414;XM_005254415;XM_005254416 AAB17263;AAC51287;AAI17162;AAI43271;AAI43272;BAD92649;EAW77923;EAW77924;NP_001166094;NP_001166095;NP_002490;Q92859;XP_005254465;XP_005254467;XP_005254468;XP_005254469;XP_005254470;XP_005254471;XP_005254472;XP_005254473 Hs.388613 1663558;1681336;1851446;2108307;2125395;2126782;2173195;2173915 D15S622E;D15S905;G17863;G31056;L18126;NEO1_8502;RH93091;WI-15859 DKFZp547A066;DKFZp547B146;HsT17534;IGDCC2;NGN;NTN1R2 OTTHUMP00000164776;immunoglobulin superfamily DCC subclass member 2;neogenin;neogenin homolog 1 APPROVED protein-coding ENSG00000067141 HGNC:7754 03549 601907 REVIEWED 732316 NELL2 NEL-like 2 (chicken) The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009] 12 12 12 q12 43705353 44111067 - 44902058 45307711 - 44508275 44913928 - 1580863;6480464;8554872 10231576;10548494;12477932;14702039;15340161;15489334;16344560;16713569;19249368;20379614;21078624;21900206;23829315;8975702;9480764 4753 B7Z625;F8VRQ0;F8VVB6;F8VXR5;F8VZ72;F8W1A2;F8W1I8;H0YHY5;H0YI34;H0YIT4;Q99435 ABBA01031431;ABBA01031432;ABBA01031433;ABBA01031434;ABBA01031435;ABBA01031436;ABBA01031437;AC018923;AC025253;AC079033;AC079825;AC090012;AK056082;AK095637;AK295125;AK297521;AK299277;AK299733;AK309825;AK315960;AK316058;AL527608;AMYH02026390;AMYH02026391;AMYH02026392;AMYH02026393;AMYH02026394;BC020544;CH471111;CQ840944;D83018;D89629;DA307194;DB316660;DC314160;FB353554;GN344091;KF455639;NM_001145107;NM_001145108;NM_001145109;NM_001145110;NM_006159;XM_005268905 AAH20544;BAA11681;BAB46925;BAG53095;BAH11983;BAH12604;BAH12990;BAH13111;BAH14331;BAH14429;CAH05709;CAR82358;CAY55981;EAW57873;EAW57874;EAW57875;NP_001138579;NP_001138580;NP_001138581;NP_001138582;NP_006150;Q99435;XP_005268962 Hs.505326 1661529;1703890;1728597;1746369;1746393;1764255;2110121;2134183 CH12SSR4;D12S1456;G63590;G64360;G64640;SHGC-147878;SHGC-83596;WI-14991 NRP2 NEL-like protein 2;NEL-related protein 2;OTTHUMP00000241187;OTTHUMP00000241188;OTTHUMP00000241189;OTTHUMP00000241190;OTTHUMP00000241191;OTTHUMP00000241192;neural epidermal growth factor-like 2;protein kinase C-binding protein NELL2 APPROVED protein-coding ENSG00000184613 HGNC:7751 11891 602320 REVIEWED 3322382 NEPNP nephrocan, pseudogene Nephrocan is a secreted glycoprotein that acts as an inhibitor of the transforming growth factor-beta signaling pathway. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, May 2010] 6 6 6 q22.1 118666992 118709154 + 117924091 117966250 + 117602928 117645087 + 6480464 16990280;18085818;20210993 442253 ABBA01026035;ABBA01026036;ABBA01026037;AL589939;AMYH02014360;NG_008306 NEPN;NPN APPROVED pseudo HGNC:33184 INFERRED 1317135 NEMF nuclear export mediator factor INVOLVED IN nuclear export; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; benzo[a]pyrene diol epoxide I; cadmium atom 14 14 14 q22 30118228 30186686 - 50250528 50319763 - 49783814 49853045 - 6480464;8554872 10575219;12477932;14702039;15489334;16103875;16341674;17081983;18029348;21890473;22939629;23000965;24778252;24816145;9610721 9147 G3V4D9;G3V547;G3V5V3;O60524 ABBA01018118;ABBA01018119;ABBA01018120;AF039687;AK000913;AK093783;AK293236;AK295010;AK304695;AK308537;AK314281;AL591767;AL627171;AMYH02029157;AMYH02029158;BC006001;BC020794;BC031007;BC041351;BC056687;BC064364;BC107764;BM477286;BM835709;BX640804;BX640807;BX648598;BX648753;CB112336;CH471078;DA899175;DC382921;KF459555;NM_001301732;NM_004713;XM_005268199;XM_005268200;XM_005268201;XR_429334 AAC18036;AAH06001;AAH20794;AAH56687;AAH64364;AAI07765;AAI46282;AAI48733;BAG52763;BAG56774;BAG58070;BAG65465;CAE45886;CAE45889;EAW65741;EAW65742;EAW65743;EAW65744;EAW65745;EAW65746;EAW65747;NP_001288661;NP_004704;O60524;XP_005268256;XP_005268257;XP_005268258 Hs.655964 1336084;1679277;1683647;1691206;1691992;2143849;2184283;5016596 AL033648;D14S1031;G29185;GDB:631802;RH41907;RH91823;RH93404;RH93701 FLJ10051;NY-CO-1;SDCCAG1 OTTHUMP00000178965;OTTHUMP00000244631;OTTHUMP00000244632;antigen NY-CO-1;nuclear export mediator factor NEMF;serologically defined colon cancer antigen 1 APPROVED protein-coding HGNC:10663 08494 608378 VALIDATED 1348864 NETO1 neuropilin (NRP) and tolloid (TLL)-like 1 This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in mice encodes a protein that plays a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 18 18 18 q22.2 67266714 67386741 - 70409549 70534828 - 72742314 72867591 - 1580863;6480464;8554872 11943477;12477932;14702039;15489334;19243221;19913121;20499253;20628086;22205981;22566634;23408906;23621516;23824909;24315451;8889548 81832 J3QRF5;Q8TDF5 ABBA01056309;ABBA01056310;ABBA01056311;AC023301;AC091138;AF448838;AF448839;AK123319;AL834354;AMYH02034977;BC050329;BU739516;CH471117;HG510130;NM_001201465;NM_138966;NM_138999;XM_005266773;XM_005266774;XM_005266776;XM_006722553 AAH50329;AAM18026;AAM18027;CAD39019;EAW66530;EAW66531;EAW66532;EAW66533;NP_001188394;NP_620416;NP_620552;Q8TDF5;XP_005266830;XP_005266831;XP_005266833;XP_006722616 Hs.465407 1672965;1707406;5107133 G65692;SHGC-84490;WI-14307 BCTL1;BTCL1;FLJ41325;RP11-713C5.1 OTTHUMP00000163731;OTTHUMP00000163732;OTTHUMP00000197091;brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 1;neuropilin and tolloid-like protein 1 APPROVED protein-coding ENSG00000166342 HGNC:13823 16264 607973 REVIEWED 736190 NEU2 sialidase 2 (cytosolic sialidase) This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008] 2 2 2 q37 227661195 227663580 + 233897382 233899767 + 233032672 233035057 + 1580863;6480464;6907045 10191093;10561456;10610726;12477932;12487819;14613940;15213228;15489334;15501818;17426694;19524683;20800603;22228546;23068092;23908028;24152035;8253770;8892864 4759 Q9Y3R4 ABBA01001998;AC106876;AMYH02005998;BC069151;BC107053;CH471063;NM_005383;Y16535 AAH69151;AAI07054;AAY24360;CAB41449;EAW71028;NP_005374;Q9Y3R4 Hs.532681 MGC129579;SIAL2 N-acetyl-alpha-neuraminidase 2;OTTHUMP00000164374;cytosolic sialidase;neuraminidase 2;sialidase-2 APPROVED protein-coding ENSG00000115488 HGNC:7759 05702 605528 REVIEWED 1347886 NEU3 sialidase 3 (membrane sialidase) This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008] 11 11 11 q13.5 72006517 72025314 + 74699950 74718743 + 74988905 75007698 + 1580863;6480464;6907045 10405317;10861246;12011038;12149448;12477932;12487819;12530538;12730204;14702039;15146197;15179041;15885103;16241905;16344560;16428383;16751776;16765317;17028199;17292733;17334392;17827720;18023981;18339327;18651674;18820643;18953356;19588508;19686243;20511247;20518744;20800603;21139048;21675735;21681193;21895867;21963094;22403397;22903576;22989879;23139422;8892864 10825 B4E0V4;E9PI40;E9PMZ3;E9PNK1;E9PR25;Q9UQ49 AB008185;ABBA01017474;ABBA01017475;ABBA01017476;AK022450;AK290442;AK303540;AMYH02025111;AP001992;BC136397;BC144059;CH471076;CN429425;DB240271;DQ590342;NM_006656;Y18563 AAI36398;AAI44060;BAA82611;BAF83131;BAG51074;BAG64566;CAB96131;EAW74953;EAW74954;NP_006647;Q9UQ49 Hs.191074 1728553;1737249;1753365 D11S3116;G63715;SHGC-107164 FLJ12388;SIAL3 N-acetyl-alpha-neuraminidase 3;OTTHUMP00000230036;OTTHUMP00000230037;OTTHUMP00000230041;ganglioside sialidase;membrane sialidase;neuraminidase 3;sialidase-3 APPROVED protein-coding HGNC:7760 05215 604617 REVIEWED 8552225 NENFP2 neudesin neurotrophic factor pseudogene 2 12 12 12 q23.2 102021793 102022272 + 102357770 102358249 + 101963992 101964471 + 100129880 ABBA01053233;AC079907;AMYH02027077;NG_009383 pseudo HGNC:50299 INFERRED 1313264 NETO2 neuropilin (NRP) and tolloid (TLL)-like 2 This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 16 16 16 q11 31623547 31686008 - 47115431 47177936 - 47081520 47144025 - 1580863;6480464 11943477;12477932;12975309;14702039;15340161;15489334;16344560;17671192;18841201;19217376;19322201;19349369 81831 H3BM37;H3BSR0;H3BTE1;Q32NC3;Q8NC67 ABBA01013757;AC007338;AC007494;AK001292;AK027478;AK027630;AK074937;AK297408;AL834404;AMYH02031970;AMYH02031971;AX164139;AY358718;BC012381;BC065504;BC098380;BC108727;BX538063;CH471092;CQ783994;CR457255;DA117339;NM_001201477;NM_018092;XM_006721289;XM_006721290;XM_006721291;XM_006721292 AAH12381;AAI08728;AAI52766;AAI56956;AAQ89080;BAA91604;BAB55141;BAB55247;BAC11303;BAH12573;CAD39066;CAD97994;CAF86961;CAG33536;EAW82695;EAW82696;NP_001188406;NP_060562;Q8NC67;XP_006721352;XP_006721353;XP_006721354;XP_006721355 Hs.645802 1649887;1675309;1675820;2160784;5092958 G32435;HSCZTF122;NIB1885;RH48278;RH67124 BTCL2;FLJ10430;FLJ14724;FLJ90456;NEOT2 OTTHUMP00000164133;brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 2;neuropilin and tolloid-like protein 2 APPROVED protein-coding ENSG00000171208 HGNC:14644 09721 607974 REVIEWED 9068508 NEURL1-AS1 NEURL1 antisense RNA 1 10 q24.33 103511779 103517416 - 102724341 AA399019;ABBA01063097;ABBA01063098;AL139339;AMYH02023724;AMYH02023725;BX089018;BX095052;HG503228;NR_120675;NR_120676;XR_424178;XR_428806;XR_432642 Hs.599425;Hs.745209 ncrna ENSG00000235470 HGNC:51220 VALIDATED 737242 NES nestin This gene encodes a member of the intermediate filament protein family and is expressed primarily in nerve cells. [provided by RefSeq, Sep 2011] 1 1 1 q23.1 129709369 129718003 - 156638555 156647189 - 156668763 156677397 - 1580863;1642069;1642074;1642072;1642071;6480655;6480464;8554872 16321245;17569338;17637254;17697621;21382035 10595912;10686078;10912785;10915564;10931522;11161590;11278541;11947939;12051722;12101039;12172785;12187925;12477932;12640742;12662433;12663072;12695551;12724646;12751206;12754281;12786777;12816052;12832492;12836073;12928287;12966327;12966727;12971951;14514635;14613807;14625035;14648588;14743441;14757413;14765974;1478958;14965830;15048922;15088413;15117961;15127288;15176089;15345747;15502861;15526158;15684833;16136494;16159877;16186627;16275024;16487364;16538520;16616189;16713999;16736556;16826367;16874866;17036052;17081983;17210924;17255215;17273760;17300669;17537965;17652163;17784648;17784840;17909025;17984177;18029348;18265627;18546018;18618166;18724036;18724228;18799194;18923447;18925963;18998057;19012049;19170896;19268442;19294612;19384922;19417621;19445653;19473053;19554024;19562035;19578047;19704967;19845757;19864043;19956860;20017104;20044038;20132963;20337823;20426902;20518888;20520523;20536663;20649878;20669222;20700038;20943257;21139048;21151388;21251041;21276080;21323603;21340483;21440298;21490921;21503585;21524985;21527990;21672338;21906983;21915031;21985235;22113177;22135720;22156015;22178090;22187705;22207173;22246533;22296500;22297445;22344865;22350668;22395498;22568867;22572237;22580387;22586326;22649953;22718289;22886682;22899289;22985576;22993065;22999866;23000965;23072594;23131160;23291835;23417116;23552743;23706418;23757003;23776077;23962157;24008823;24147430;24254558;24283983;24443256;24657437;25027693;4078630;9104587;9917366 10763 P48681;Q9H6U9 AB073350;ABBA01016652;AF004335;AF086454;AK025494;AL120767;AL590666;AMYH02001977;BC032580;BC051373;BC108285;BC142611;BF340882;BG912782;BQ678387;BU554136;CH471121;NG_012300;NM_006617;X65964 AAB64426;AAH32580;AAI08286;AAI42612;ACX32329;BAB15153;BAE45713;CAA46780;EAW52923;EAW52924;EAW52925;EAW52926;NP_006608;P48681 Hs.527971 1793088;1797898;1847181;2124601 NES_2469;PMC19509P1;RH69273;WI-17762 FLJ21841;Nbla00170 OTTHUMP00000032198 APPROVED protein-coding ENSG00000132688 HGNC:7756 09020 600915 REVIEWED 1312823 NET1 neuroepithelial cell transforming 1 This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 10 10 10 p15 5385186 5430983 + 5454514 5501019 + 5412551 5459056 + 1580863;6480464;7240710;8554872 11278519;11350080;12477932;15342556;15489334;15611121;15684429;15717291;15719398;15851553;16344560;16385451;16552434;16741933;17938206;18214716;18478931;18509476;18827818;19124484;19322201;19586902;19615732;20078975;20547485;20562859;21139048;21284875;21373644;21390328;21906983;21963094;21987572;22343628;22505724;22927407;23184663;23636606;23689132;23864709;23872233;23945136;24375299;8649828;9535835 10276 B4E1Y1;Q5SQI5;Q5SQI6;Q5SQI7;Q7Z628 AB209852;ABBA01034780;ABBA01034781;AJ010046;AK024919;AK294244;AK299335;AK302687;AK304028;AK315566;AL732437;AMYH02022041;AMYH02022042;AMYH02022043;BC010285;BC053553;BP354878;BQ024592;BU633004;BX537509;CD722646;CH471072;DA727151;DB177813;DC307907;NM_001047160;NM_005863;NR_073040;S82401;U02081 AAB08847;AAB37683;AAH10285;AAH53553;BAD93089;BAG37941;BAG57540;BAG61338;BAG63916;BAG64943;CAA08974;EAW86445;EAW86446;NP_001040625;NP_005854;Q7Z628 Hs.25155 1782150;1854767;2139000;2139284;2148471;2148473;2168269;2174380;5017867 A004R05;A005V03;D10S2144;G20525;G30942;NET1;SHGC-155498;STS-U02081;WI-18301 ARHGEF8;NET1A OTTHUMP00000019002;OTTHUMP00000019003;Rho guanine nucleotide exchange factor (GEF) 8;guanine nucleotide regulatory protein (oncogene);neuroepithelial cell transforming gene 1;neuroepithelial cell-transforming gene 1 protein;neuroepithelioma transforming gene 1;p65 Net1 proto-oncogene protein;proto-oncogene p65 Net1;rho guanine nucleotide exchange factor 8;small GTP-binding protein regulator APPROVED protein-coding ENSG00000173848 HGNC:14592 07342 604715;606450 REVIEWED 1315006 NEURL2 neuralized E3 ubiquitin protein ligase 2 This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013] 20 20 20 q13.12 41228725 41231363 - 44517111 44519926 - 45888472 45891287 - 1334462;1580863;1598407;6480464;8554872 14986688 11780052;12076535;12477932;14702039;14960280;14992713;15489334;19472918;19723503 140825 H0YGA6;Q9BR09 ABBA01052670;AJ295985;AK054821;AL008726;AMYH02037154;AW298115;AW515245;BC074737;BC105935;BC107485;CH471077;HY058356;NG_008291;NG_033108;NM_001278535;NM_080749 AAH74737;AAI05936;AAI07486;BAB70810;CAC82498;EAW75790;NP_001265464;NP_542787;Q9BR09 Hs.517094;Hs.609336 1745931 G64282 C20orf163;MGC125934;MGC125935;OZZ;Ozz-E3 OTTHUMP00000031186;OTTHUMP00000237031;neuralized homolog 2;neuralized-like 2;neuralized-like 2 (drosophila);neuralized-like protein 2 APPROVED protein-coding ENSG00000124257 HGNC:16156 16353 608597 REVIEWED 1605013 NEURL3 neuralized E3 ubiquitin protein ligase 3 ENCODES a protein that exhibits ligase activity (inferred); ubiquitin-protein transferase activity (inferred); zinc ion binding (inferred); INVOLVED IN protein ubiquitination (inferred); INTERACTS WITH (-)-demecolcine; aflatoxin B1; cisplatin 2 2 2 q11.2 91604591 91615058 - 97163383 97173846 - 96497643 96508109 - 6480464 11181995;12477932;15936721;8889548 93082 Q96EH8 ABBA01036590;AC013270;AC021188;AK311953;AL389981;AMYH02004333;BC012317;CA311039;CH471207;DC406186;HY288910;NM_001285485;NM_001285486;NR_104346 BAG34893;EAW71368;EAW71369;NP_001272414;NP_001272415;Q96EH8 Hs.149219 LINCR E3 ubiquitin-protein ligase NEURL3;lung-inducible neuralized-related C3CH4 RING domain protein;neuralized homolog 3 pseudogene;neuralized-like protein 3 APPROVED protein-coding ENSG00000163121 HGNC:25162 14296 VALIDATED 1318506 NEU4 sialidase 4 The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009] 2 2 2 q37.3 236415462 236423972 + 242749920 242758742 + 241809065 241817413 + 1580863;6480464;6907045 12477932;14637003;14702039;14962670;15213228;15489334;15498874;15815621;15885103;16189514;18651674;19060904;19447967;19797320;20467438;21521691;22287118;22393058 129807 B3KR54;C9IZG9;C9J295;C9J2R4;C9J2V4;C9J5X2;C9JEA3;C9JRN9;F8WE58;Q3KR05;Q8WWR8 ABBA01006067;AC114730;AC131097;AF048727;AJ277883;AK025617;AK091038;AK096992;AK289421;AK290076;AK298403;AK300969;AMYH02006121;AY203952;BC012899;BC063465;BC067780;BC105974;BC117214;BQ651855;CH471063;DB173219;DC412650;NM_001167599;NM_001167600;NM_001167601;NM_001167602;NM_080741 AAH12899;AAI05975;AAI17215;AAP34475;AAX82022;ADR83030;BAF82110;BAF82765;BAG52266;BAH12778;BAH13385;CAC81904;EAW71294;EAW71295;EAW71296;EAW71297;NP_001161071;NP_001161072;NP_001161073;NP_001161074;NP_542779;Q8WWR8 Hs.551747 5019861 G54568 FLJ35928;MGC102757;MGC18222 N-acetyl-alpha-neuraminidase 4;OTTHUMP00000164607;OTTHUMP00000164608;OTTHUMP00000200025;OTTHUMP00000200026;OTTHUMP00000200028;OTTHUMP00000200029;OTTHUMP00000200033;OTTHUMP00000200034;neuraminidase 4;sialidase-4 APPROVED protein-coding ENSG00000204099 HGNC:21328 12249 608527 REVIEWED 1315966 NEURL1 neuralized E3 ubiquitin protein ligase 1 ENCODES a protein that exhibits translation factor activity, non-nucleic acid binding (ortholog); ubiquitin-protein transferase activity (ortholog); INVOLVED IN negative regulation of cell proliferation; negative regulation of Notch signaling pathway; positive regulation of apoptotic process; PARTICIPATES IN Notch signaling pathway; ASSOCIATED WITH Seizures (ortholog); FOUND IN plasma membrane; apical dendrite (ortholog); dendritic spine (ortholog); INTERACTS WITH (+)-catechin; all-trans-retinoic acid; disodium selenite 10 10 10 q25.1 98993672 99092247 + 105253735 105352309 + 103493978 103592552 + 1334462;1580863;2302390;6480464;6484113 12213446;14986688 11585928;11997106;12076535;12477932;15164054;15489334;16385451;18077452;19322201;19690564;20526338;20847082;23453885;9519875 9148 B4DS86;O76050;X6RBV8;X6RLA8 ABBA01063093;ABBA01063094;ABBA01063095;ABBA01063096;ABBA01063097;ABBA01063098;ABBA01063099;AF029729;AK299620;AL121929;AL139339;AMYH02023724;AMYH02023725;BC026336;CH471066;NM_004210;U87864;XM_005270269;XM_005270270 AAC17474;AAD01887;AAH26336;BAG61548;EAW49628;EAW49629;EAW49630;NP_004201;O76050;XP_005270326;XP_005270327 Hs.594708 1342127;1653178;1653180;1674226;1688098;1690846;1697566;1730984;1736146;1760021;1851229;2108309;2129885;2144458;2157264;2160378;2179454;2180667;7185378 A005K38;D10S1400E;D10S222;D10S299;G20290;NEURL_8906;RH102293;RH48899;RH68774;RH78889;RH92781;RH93063;SGC33314;SHGC-106571;SHGC-31369;SHGC-4169;SHGC-57337;STS-N31939 NEUR1;RNF67;bA416N2.1;neu;neu-1 E3 ubiquitin-protein ligase NEURL1;NEURL;OTTHUMP00000020414;RING finger protein 67;h-neuralized 1;neuralized homolog;neuralized-like (drosophila);neuralized-like protein 1A APPROVED protein-coding ENSG00000107954 HGNC:7761 04815 603804 VALIDATED 1601733 NEURL4 neuralized E3 ubiquitin protein ligase 4 The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008] 17 17 17 p13 7244892 7258577 - 7218947 7232644 - 7315632 7329319 - 6480464 11347906;12477932;14702039;17353931;19615732;20360068;21139048;21890473;21906983;21963094;22053931;22261722;22441691;22505724;22645313;23443559;23486064;23602568 84461 I3L100;I3L2W2;I3L2Z9;K7EPS7;Q96JN8 AB058690;ABBA01054860;AC026954;AL136870;AL833570;AMYH02032897;BC007227;BC073134;NM_001005408;NM_032442 AAH07227;AAH73134;BAB47416;CAB66804;NP_001005408;NP_115818;Q96JN8 Hs.654794 1652841;2182995 RH78284;STS-T79836 FLJ35680;KIAA1787 OTTHUMP00000163159;OTTHUMP00000163160;neuralized homolog 4;neuralized-like protein 4 APPROVED protein-coding ENSG00000215041 HGNC:34410 13894 615865 VALIDATED 735984 NEU1 sialidase 1 (lysosomal sialidase) The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33425415 33429295 - 31826829 31830709 - 31859052 31862932 - 1580863;6480464;6907045;7240710;8554872;8699517 10767332;10896669;10944856;11063730;11279074;11470272;11571282;11702224;11829139;12067718;12477932;12487819;14517945;14656967;14695530;15024131;15213228;15489334;15885103;16094384;16169070;16314420;16344560;16538002;16835219;17028199;17480010;17562335;18029348;18606142;18651674;18772331;19151752;19199708;19460752;19473359;19568825;19666471;19686243;19851445;21081666;21103358;21551251;21873432;21906983;21928149;21988832;22247545;22268729;22403397;22903576;22989879;22990118;23291686;23391804;24550400;24808020;3102233;3922758;8312369;8892864;8910459;8985184;9020182;9054950;9480870;9501080 4758 E9PIF4;E9PIJ4;Q5JQI0;Q99519 AB209011;ABBA01038091;AF040958;AF134726;AK290966;AK313006;AL662834;AL671762;AL844853;AMYH02013456;AY559729;AY559730;AY559731;BA000025;BC000722;BC011900;BT007206;BX005460;CA428930;CH471081;CR388202;CR456717;CR541916;CR759784;CR933877;CR936237;DB122914;NG_008201;NM_000434;U84246;X78687 AAB96774;AAD09239;AAD21814;AAH00722;AAH11900;AAP35870;AAT11275;AAT11276;AAT11277;ABM81642;ABM83112;ABM84822;ABM86306;BAB63297;BAD92248;BAF83655;BAG35842;CAA55356;CAG32998;CAG46714;EAX03536;EAX03537;NP_000425;Q99519 Hs.520037 1768266;2135663;2178031 D6S1197E;D6S1884;RH18309 FLJ93471;NANH;NEU;SIAL1 G9 sialidase;N-acetyl-alpha-neuraminidase 1;OTTHUMP00000029419;OTTHUMP00000233835;acetylneuraminyl hydrolase;exo-alpha-sialidase;lysosomal sialidase;neuraminidase 1;sialidase-1 APPROVED protein-coding ENSG00000204386 HGNC:7758 09751 256550;608272 REVIEWED 1344395 NEUROD2 neuronal differentiation 2 This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008] 17 17 17 q12 34419756 34423910 - 37760021 37764175 - 39603768 39607922 - 1580863;6480464 10209266;10640683;10662545;11473083;11732772;11900979;12477932;14732494;15489334;16607387;17117180;19086053;19124506;20880594;21900206;22752091;8816493;9119405;9748526 4761 Q15784;Q5U0R0 AB021742;ABBA01031861;AC087491;AMYH02033385;AW134767;BC022481;BT019365;CH471152;NM_006160;U58681;XM_005257409 AAC26058;AAH22481;AAV38172;BAA77569;EAW60579;NP_006151;Q15784;XP_005257466 Hs.322431 1796404 NEUROD2_1374 MGC26304;NDRF;bHLHa1 OTTHUMP00000164277;class A basic helix-loop-helix protein 1;neuroD-related factor;neurogenic basic-helix-loop-helix protein;neurogenic differentiation 2;neurogenic differentiation factor 2 APPROVED protein-coding HGNC:7763 03429 601725 REVIEWED 1352054 NEUROD5 neurogenic differentiation 5 63975 HGNC:13803 1321332 NEUROD4 neuronal differentiation 4 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN amacrine cell differentiation (ortholog); positive regulation of cell differentiation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); bis(2-chloroethyl) sulfide (ortholog); bisphenol A (ortholog) 12 12 12 q13.2 55065583 55075655 + 55413729 55423801 + 55019945 55030017 + 1580863;6480464;8554872 11078465;12477932;16344560;19086053;20379614;21988832;8889548 58158 Q8IW56;Q9HD90 ABBA01008378;AC027287;AF203901;AK314136;AMYH02026541;BC040961;BM683125;CH471054;DA417566;DA768001;NM_021191 AAF99097;AAH40961;BAG36826;EAW96803;NP_067014;Q9HD90 Hs.591024 1668254;1711408;2107433 G42188;NEUROD4_381.2;RH48632 ATH-3;ATH3;Atoh3;MATH-3;bHLHa4 OTTHUMP00000242228;class A basic helix-loop-helix protein 4;neurogenic differentiation 4;neurogenic differentiation factor 4;protein atonal homolog 3 APPROVED protein-coding ENSG00000123307 HGNC:13802 14826 611635 VALIDATED 1343073 NEUROD6 neuronal differentiation 6 This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012] 7 7 7 p14.3 31365996 31369454 - 31377075 31380538 - 31337461 31340924 - 1580863;6480464 11748221;12357074;12477932;12690205;14702039;15036409;19733838;21906983 63974 Q96NK8 AACC02000087;ABBA01056821;AC006380;AF063609;AF136169;AF248954;AK055224;AK055238;AK289619;AMYH02015463;BC022560;BC035048;CH471073;NM_022728 AAG43167;AAH35048;AAO12759;AAP97259;ABZ92409;BAB70885;BAF82308;BAG51488;EAL24443;EAW93979;NP_073565;Q96NK8 Hs.45152 1790191;1852348;2108839;5094879 BF386980;NEUROD6;NEUROD6_223.2;RH78250 Atoh2;MATH2;Math-2;NEX1M;Nex1;bHLHa2 OTTHUMP00000123444;brain my051 protein;class A basic helix-loop-helix protein 2;neurogenic differentiation 6;neurogenic differentiation factor 6;protein atonal homolog 2 APPROVED protein-coding ENSG00000164600 HGNC:13804 11387 611513 REVIEWED 1319191 NEUROG2 neurogenin 2 This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons. [provided by RefSeq, Apr 2012] 4 4 4 q25 110728735 110731391 - 113434672 113437328 - 112513516 112516172 - 1580863;6480464;8554872 11203697;11752450;12477932;15489334;16024661;17784840;18242186;19879328;20332099;20467438;21209909;8948587;9539123 63973 Q9H2A3 ABBA01063815;AC023886;AF303002;AMYH02009935;BC036847;CH471057;NM_024019 AAG40770;AAH36847;EAX06278;NP_076924;Q9H2A3 Hs.744415 Atoh4;MGC46562;Math4A;NGN2;bHLHa8;ngn-2 OTTHUMP00000163826;class A basic helix-loop-helix protein 8;neurogenin-2;protein atonal homolog 4 APPROVED protein-coding ENSG00000178403 HGNC:13805 06976 606624 REVIEWED 1352814 NEUROG1 neurogenin 1 ENCODES a protein that exhibits chromatin binding (ortholog); DNA binding (ortholog); E-box binding (ortholog); INVOLVED IN positive regulation of neuron differentiation (ortholog); positive regulation of sequence-specific DNA binding transcription factor activity (ortholog); positive regulation of transcription from RNA polymerase II promoter (ortholog); FOUND IN nucleus (inferred); perikaryon (inferred); INTERACTS WITH 1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane; all-trans-retinoic acid; arsenite(3-) 5 5 5 q23-q31 130993709 130995376 - 134869972 134871639 - 135534282 135535949 - 1580863;6480464 11239394;11732772;12477932;12526089;15489334;17044100;18053270;18799289;19086053;19813087;20102160;20211142;21326223;21697133;23034738;23419067;8816493;9119405 4762 F1T0H3;Q92886 AB593107;ABBA01068726;AC005738;AMYH02012255;BC008687;BC028226;BT019366;CH471062;FB571447;NM_006161;U63842 AAB37575;AAH08687;AAH28226;AAV38173;ABM82455;ABM85644;BAJ84047;CAR95141;EAW62214;NP_006152;Q92886 Hs.248149 1687397;1846893 RH65308;RH80843 AKA;Math4C;NEUROD3;NGN-1;bHLHa6;ngn1 OTTHUMP00000159409;class A basic helix-loop-helix protein 6;neurogenic basic-helix-loop-helix protein;neurogenic differentiation 3;neurogenic differentiation factor 3;neurogenin-1 protein-coding ENSG00000181965 HGNC:7764 03430 601726 VALIDATED 2303667 NEURL1B neuralized E3 ubiquitin protein ligase 1B ENCODES a protein that exhibits ligase activity (inferred); zinc ion binding (inferred); INVOLVED IN Notch signaling pathway (inferred); protein ubiquitination (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 5 5 5 q35.1 168100993 168151433 + 172068266 172118543 + 172641273 172691540 + 6480464 14702039;15372022;17003037;19723503 54492 A8MQ27 ABBA01044041;ABBA01044042;AC027309;AK026748;AK091605;AK096661;AK126311;AL137347;AMYH02012757;GQ414757;GQ414758;GQ414759;NM_001142651 A8MQ27;ACV53563;ACV53564;ACV53565;NP_001136123 Hs.91521 1643820;1649569;1740399;1740417;1853885 D5S1851;D5S2218E;D5S2229E;WI-13439;WI-14692 DKFZp761M1511;NEURL3;hNeur2;neur2 E3 ubiquitin-protein ligase NEURL1B;E3 ubiquitin-protein ligase NEURL3;OTTHUMP00000223474;OTTHUMP00000223482;OTTHUMP00000223483;neuralized 2 alternative protein;neuralized homolog 1B;neuralized-2;neuralized-like protein 1B;neuralized-like protein 3 APPROVED protein-coding ENSG00000214357 HGNC:35422 615893 VALIDATED 1344822 NEUROG3 neurogenin 3 The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010] 10 10 10 q21.3 64608651 64610070 - 71331791 71333210 - 69572035 69573454 - 1580863;1642077;1601481;2313774;2313775;6480464;6907045;7240710;8554872;8699517 15277395;17146417;17239820;19819964 10677506;11206403;11246894;11270683;12403815;12477932;14576336;16511571;16855267;16873704;17922104;18072012;18093211;18210030;18461161;18854154;19307926;19336475;19538245;20668890;20807725;21099270;21378176;21739268;21814221;22266316;22606327;23349771;24134759;24493854;9000438 50674 Q9Y4Z2 ABBA01019609;AF234829;AJ133776;AK313952;AL450311;AMYH02023273;BC069098;BC074938;BC074939;BC117488;BC126468;CH471083;GQ904714;NG_021321;NM_020999 AAH69098;AAH74938;AAH74939;AAI17489;AAI26469;AAK15022;ABZ92401;ADM86144;ADR83510;BAG36669;CAB45384;EAW54328;NP_066279;Q9Y4Z2 Hs.532682 2218792;5492721;5493683;5494059 NEUROG3_4133;UniSTS:480863;UniSTS:482136;UniSTS:490304 Atoh5;Math4B;NGN-3;bHLHa7;ngn3 OTTHUMP00000019730;class A basic helix-loop-helix protein 7;neurogenin-3;protein atonal homolog 5 APPROVED protein-coding HGNC:13806 05346 604882;610370 REVIEWED 1348793 NF1L3 neurofibromin 1-like 3 4766 HGNC:7768 7246569 NEXN-AS1 NEXN antisense RNA 1 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; quercetin 1 1 1 p31.1 76586093 76594269 - 78347033 78357449 - 77881348 77889539 - 6480464 14702039 374987 Q8NBZ9 ABBA01074393;AC138392;AK075118;AMYH02001305;AMYH02001306;CQ783163;HG492195;NR_103535 BAC11413;CAF86369;Q8NBZ9 Hs.632414 2137463;5022578 D1S1423;DXS7775 C1orf118 ncrna ENSG00000235927 HGNC:31983 13542 VALIDATED 731467 NEUROD1 neuronal differentiation 1 This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008] 2 2 2 q32 176137248 176141434 - 182540833 182545392 - 181676106 181680665 - 1625044;1601481;1580863;2313477;2313480;2313481;2313482;2313483;2313487;2313488;2313489;2313486;2313478;6480464;6907045;7240710;8554872;8699517 10545951;11719843;15047635;15277395;15592940;15979049;16357810;16773428;16909454;17440689;18331410;18811724 10366743;10507539;10636926;10757985;11575290;11591653;11755474;11788592;11900979;12200761;12476420;12477932;12482979;12639765;12861411;12881483;12890672;12951629;14752053;14759067;15247487;15489334;15650322;15665000;15708351;15815621;15993959;16024661;16026366;16055439;16321269;16321656;16344560;16569215;16870135;16873704;16936201;17126478;17192490;17217914;17327436;17941991;17985422;18029348;18339630;18519782;18587321;19086053;19228875;19307926;19353266;19619559;19913121;20120526;20416077;20573748;20628086;20682687;20692411;21084850;21278380;21349947;21697133;21800309;21988832;22455846;22558175;22761608;23203005;23553831;23739064;24250222;24732800;8786144;8915591;9039501;9144558;9308961;9343431;9703340;9714454 4760 Q13562 AB009997;AB016079;AB018693;AB028145;AB593068;AB593069;AB593070;AB593071;ABBA01062289;AC013733;AF045152;AK313799;AL049266;AMYH02005358;AMYH02005359;BC009046;BM505034;BT019731;CH471058;D82347;DA486317;DB472071;DN949274;NG_011820;NM_002500;U36472;U50822;U80578 AAA79702;AAA93480;AAC51318;AAC83145;AAH09046;AAV38536;AAY24267;ABM82486;ABM85673;BAA11558;BAA36519;BAA76603;BAA87605;BAG36535;BAJ84015;BAJ84016;BAJ84017;BAJ84018;EAX10983;NP_002491;Q13562 Hs.574626;Hs.709709 1677278;1794550;1794928;1794930;1796402 NEUROD1_221;PMC317250P4;PMC85623P1;PMC85623P3;RH80773 BETA2;BHF-1;MODY6;bHLHa3 NEUROD;OTTHUMP00000163404;basic helix-loop-helix transcription factor;beta-cell E-box transactivator 2;class A basic helix-loop-helix protein 3;neurogenic differentiation 1;neurogenic differentiation factor 1;neurogenic helix-loop-helix protein NEUROD APPROVED protein-coding ENSG00000162992 HGNC:7762 03428 125853;601724;606394 REVIEWED 4107153 NF1P2 neurofibromin 1 pseudogene 2 15 15 15 q11.2 1165 5935 - 22133181 22145802 - 21927657 21940278 - 1505963;8264676;8825634 440225 AC060814;AC183089;AMYH02030012;M84131;NR_028506;X72619 Hs.722451 NF1HHS pseudo ENSG00000258997 HGNC:38664 PROVISIONAL 1344752 NF1P3 neurofibromin 1 pseudogene 3 21 21 21 q11.2 523699 528055 + 15373246 15377600 + 14000925 14005279 + 10830953;7686513;7926815 4764 AP001634;D26141;NG_009867;X76118 CAA53724 NF1L1 APPROVED pseudo HGNC:7766 INFERRED 1344267 NF1P4 neurofibromin 1 pseudogene 4 14 14 q11.1 19484443 19495427 - 19492279 19503252 + 10591208;12508121;14702039;8825634 100419029 AL512624;AMYH02028782;CR383656;NG_007891;U35690 NF1L4;NF1L6 APPROVED pseudo HGNC:7769 INFERRED 1350949 NF1P6 neurofibromin 1 pseudogene 6 22 22 q11.1 16345913 16355362 + 15622601 15632050 - 10591208;12508121;14702039;8825634 644637 AMYH02037969;AP000531;AP000532;NG_007890;U35692 NF1L4;NF1L6 APPROVED pseudo HGNC:7771 INFERRED 2293600 NF1P7 neurofibromin 1 pseudogene 7 14 14 q11.1 20078032 20089290 + 18898416 18909674 - 100158257 AL512310;AL929601;NG_007892 NF1L7 APPROVED pseudo HGNC:34230 INFERRED 1352926 NF1P8 neurofibromin 1 pseudogene 8 2 2 2 q21.1 124621994 124631551 + 131946021 131955578 - 131188448 131198005 - 8825634 401007 ABBA01004563;AC009477;AC131180;AMYH02004806;NG_007888;U35697 1751129 SHGC-104985 NF1L2 APPROVED pseudo HGNC:7767 INFERRED 1350437 NF1P1 neurofibromin 1 pseudogene 1 15 15 q11.2 21122012 21141048 - 20916683 20935719 - 1505963;8264676;8825634 100419006 AC037471;NG_025283;U35691 NF1HHS pseudo HGNC:7772 INFERRED 1354261 NEXN nexilin (F actin binding protein) This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] 1 1 1 p31.1 76593252 76648659 + 78354200 78412009 + 77888515 77946324 + 6480464;7240710;8554872 12053183;12477932;12601173;15823560;15840729;19881492;19913121;20301486;20301725;20360068;20379614;20628086;20970104;21139048;21145461;22381134;23000965;23398456;24639526;8227983;9832551 91624 B4DDI0;D3DQ79;E7ETM8;E7EUA0;H7BXY5;Q0ZGT2 AA249326;ABBA01074393;AC096948;AC138392;AF114264;AF176780;AK057954;AK127535;AK293201;AK298565;AK300728;AK307487;AMYH02001306;AMYH02001307;AMYH02001308;AY211912;BC017827;BC055084;BC111395;BC114444;BC114445;BQ009808;BX648546;CH471059;CR936630;DC412178;DQ464902;NG_016625;NM_001172309;NM_144573;S67069;XM_005271322;XM_005271323;XM_005271324;XM_005271325;XM_005271326;XM_005271327 AAB28815;AAD29607;AAH17827;AAH55084;AAI11396;AAI14445;AAI14446;AAO65165;AAQ13658;ABE97925;BAB71622;BAG56741;BAG60759;BAG62401;CAI56773;EAX06359;EAX06360;EAX06361;EAX06362;NP_001165780;NP_653174;Q0ZGT2;XP_005271379;XP_005271380;XP_005271381;XP_005271382;XP_005271383;XP_005271384 Hs.612385 1666491;1697968;2120727;2149783;2156305;2219988 D1S1832E;NEXN__6236;RH102513;RH64572;SHGC-75023;SHGC-75054 CMH20;MGC104234;MGC138865;MGC138866 F-actin-binding protein;NELIN;OTTHUMP00000038336;OTTHUMP00000038337;OTTHUMP00000038338;OTTHUMP00000038339;nexilin APPROVED protein-coding ENSG00000162614 HGNC:29557 11388 613121;613122;613876 REVIEWED 1353614 NF1P5 neurofibromin 1 pseudogene 5 18 18 18 p11.21 14032493 14036842 - 14152996 14157343 - 14152997 14157344 - 16177791;8825634 4768 ABBA01074043;AC006557;AMYH02034357;AP001004;NG_007889;U35688;U35689 NF1L5 APPROVED pseudo HGNC:7770 INFERRED 1348005 NFAM1 NFAT activating protein with ITAM motif 1 The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine-based activation motif (ITAM) and is thought to regulate the signaling and development of B-cells. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 26582650 26634673 - 42776413 42833086 - 42380407 42437084 - 737633;1580863;6480464 12477932 12615919;12693554;14702039;15143214;15461802;15489334;17079331;18031784;18295596 150372 F8WE95;Q8NET5 ABBA01055673;ABBA01055674;ABBA01055675;AK074094;AK097971;AL022316;AMYH02038459;AY121370;AY247409;BC038241;CH471095;CT841509;NM_145912;XM_005261374 AAH38241;AAM83133;AAO91847;BAB84920;CAJ86439;CAK54645;CAK54944;EAW60504;EAW60505;NP_666017;Q8NET5;XP_005261431 Hs.436677 1662968;5022578 D1S1423;D22S1270 FLJ40652;bK126B4.4 CNAIP;NFAT activation molecule 1;NFAT-activating protein with ITAM motif 1;OTTHUMP00000198711;calcinerin/NFAT-activating ITAM-containing protein;calcineurin/NFAT-activating ITAM-containing protein APPROVED protein-coding ENSG00000235568 HGNC:29872 16380 608740 REVIEWED 1346235 NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013] 18 18 18 q23 73929368 74061687 + 77155772 77289323 + 79395772 79529323 + 1580863;6480464;6907045;8554872 10072078;10089876;10358178;10618429;10652349;10748182;10821850;11222731;11448168;11823475;11877454;11897999;11911478;11956293;12021260;12080349;12183075;12351631;12355451;12408978;12427739;12469121;12477932;12482669;12521306;12560487;12788643;12850144;12884293;14749367;1497875;14979875;15078178;15117818;15161933;15229217;15304486;15347678;15466412;15466861;15632146;15790681;16109714;16237100;16260021;16280328;16340127;16436503;16473827;16513293;16586042;16690925;16874304;16880514;16931157;17082665;17097050;17110989;17237284;17577925;17606988;17674968;17693409;17882263;17922653;18078995;18097033;18097055;18156209;18246125;18288635;18350607;18462673;18667424;18675896;18708588;18772129;19019468;19052845;19204004;19218564;19233265;19351910;19449179;19453261;19460777;19463978;19564342;19801542;19900447;19913121;19914243;19950017;19961855;20002873;20237496;20379146;20463068;20628086;20664054;20865272;20925194;21047202;21055286;21172821;21220349;21278340;21284733;21298033;21398617;21413932;21490927;21499900;21596928;21603612;21898543;22032245;22045870;22113269;22375008;22422068;22446626;22593154;22613791;22627363;22688515;22709542;22722879;22814600;22902539;23221330;23227982;23286482;23446734;23737530;23811942;23832742;23986795;24043548;24415751;24657343;7842733;7957556;7999066;8202141;8702849;8814265;9072970;9075924;9143705;9506523;9845362 4772 A8K9C6;B4DER8;F5H4S8;K7EQ04;K7ER53;O95644 AA621079;AA679278;ABBA01013887;ABBA01013888;ABBA01013889;ABBA01013890;AC018445;AC023090;AK292641;AK293760;AMYH02035059;AMYH02035060;AMYH02035061;AMYH02035062;AW014910;BC033848;BC045628;BC104753;BC112243;BC143457;BF515172;CH471117;EU887559;EU887560;EU887561;EU887562;EU887563;EU887564;EU887565;EU887566;HI574302;HI574304;HI574306;HI574308;HI574310;HY039825;NG_029226;NM_001278669;NM_001278670;NM_001278672;NM_001278673;NM_001278675;NM_006162;NM_172387;NM_172388;NM_172389;NM_172390;U08015;U59736;U80917;U80918;U80919;XM_006722477;XM_006722478 AAA19601;AAC50869;AAD00450;AAD00451;AAD00452;AAI04754;AAI12244;ACG55579;ACG55580;ACG55581;ACG55582;ACG55583;ACG55584;ACG55585;ACG55586;BAF85330;BAG57179;CBX47640;CBX47641;CBX47642;CBX47643;CBX47644;EAW66617;EAW66618;EAW66619;EAW66620;EAW66621;EAW66622;NP_001265598;NP_001265599;NP_001265601;NP_001265602;NP_001265604;NP_006153;NP_765975;NP_765976;NP_765977;NP_765978;O95644;XP_006722540;XP_006722541 Hs.534074;Hs.701518 1337075;1684560;1744737;1754027;1853496;2131856;2132163;2219992 D18S1095;D18S1221;GDB:555590;NFATC1_4134;RH91458;SHGC-132069;STS-T92423;STS-U08015 MGC138448;NF-ATC;NFAT2;NFATc NF-ATc1;NFAT transcription complex cytosolic component;OTTHUMP00000163811;OTTHUMP00000163812;OTTHUMP00000163813;nuclear factor of activated T-cells, cytoplasmic 1 APPROVED protein-coding ENSG00000131196 HGNC:7775 02729 600489 REVIEWED 731858 NF2 neurofibromin 2 (merlin) This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008] 22 22 22 q12.2 13799281 13894313 + 29999545 30094589 + 29603556 29698600 + 1624321;1580863;2315000;2315002;6480464;7240710;8554872;8661808;8699517;8661792;8661791 16398473;16468657;17287518;19487675;20600642;22956607 10036239;10090912;10220142;10401006;10591208;10669747;10675333;10861283;11159946;11256614;11285248;11380622;11432873;11535133;11719502;11827459;11836375;11839955;11856822;12118253;12191989;12217955;12226091;12356905;12444101;12444102;12446789;12471027;12477932;12478663;12665675;12684666;12695331;12896975;13679444;1456285;14566860;14580336;14612918;14702039;14724586;14981079;15123692;15146197;15190457;15378014;15461802;15467741;15489334;15541357;15580288;15598747;15609345;15635074;15699051;15743831;15797715;15824172;15980114;16007223;16282498;16497727;16532029;16537381;16612978;16652148;16786152;16824698;16885985;17007372;17081983;17210637;17222329;17353411;17470137;17478763;17509660;17509819;17566081;17655741;17868749;17891137;17989580;18029348;18033041;18071304;18072270;18173316;18187620;18285426;18332868;18361411;18445079;18632626;18670066;18725387;18766994;18808065;18822692;18835652;18923024;18953429;19029950;19141242;19142715;19144871;19328320;19351817;19451225;19451229;19615732;19687056;19778867;19924781;19946888;19968670;20009918;20054297;20178741;20195187;20301380;20379614;20445339;20491622;20553997;20682713;20831745;20890305;20930055;20937768;21139048;21154335;21167305;21182951;21233212;21278391;21383154;21481793;21563229;21743150;21750658;21890473;21906983;21965655;21971708;22012890;22053931;22081132;22247700;22249120;22281088;22295085;22325036;22355270;22414063;22431917;22525268;22797925;22911524;22912849;22939629;22989157;23000965;23036697;23188051;23249734;23308224;23413263;23455610;23455924;23468835;23558725;23666797;23788249;23921927;24171707;24249803;24250222;24255178;24260485;24282279;24309211;24323642;24356468;24357459;24726726;24816145;24912773;25026211;7485397;7666400;7798645;7868131;7913580;7951231;7981675;8004107;8012353;8069298;8069299;8081368;8162072;8162073;8230593;8379998;8453669;8566958;8655144;8757035;8791482;8889548;9330869;9399891;9430655;9486775;9537418;9703963;9748471;9817927 4771 B7Z4B6;P35240 ABBA01055271;ABBA01055272;ABBA01055273;ABBA01055274;AC004882;AC005529;AF113694;AF122827;AF122828;AF123570;AF165426;AF369657;AF369658;AF369659;AF369660;AF369661;AF369662;AF369663;AF369664;AF369665;AF369666;AF369667;AF369668;AF369700;AF369701;AF369702;AF369703;AK092306;AK092515;AK297116;AMYH02038205;AMYH02038206;BC003112;BC007279;BC007336;BC010060;BC020257;BC071653;CF138178;CH471095;CN419318;CR456530;EF517524;L11353;L27065;L27066;L28839;NG_009057;NM_000268;NM_016418;NM_181825;NM_181828;NM_181829;NM_181830;NM_181831;NM_181832;NM_181833;S73853;S73854;S73856;X72655;X72670;Y18000;Z22664 AAA36212;AAA62422;AAB31736;AAB31737;AAB31738;AAD48752;AAD48753;AAD48754;AAF29587;AAF80764;AAH03112;AAH20257;AAK54160;AAK54161;AAK54162;AAK54163;AAK54164;AAK54165;AAK54166;AAK54195;AAK54196;ABM82623;ABM85804;ABP73252;BAH12502;CAA51220;CAA76992;CAA76993;CAA80377;CAG30416;CAK54561;CAK54860;EAW59814;EAW59815;EAW59816;EAW59817;EAW59818;EAW59819;EAW59820;EAW59821;EAW59822;EAW59823;EAW59824;EAW59825;EAW59826;EAW59827;EAW59828;EAW59829;EAW59830;EAW59831;EAW59832;EAW59833;NP_000259;NP_057502;NP_861546;NP_861966;NP_861967;NP_861968;NP_861969;NP_861970;NP_861971;P35240 Hs.187898 1678875;1700666;1729061;1734136;1743507;1743779;1743781;1743787;1772798;1850863;2117172;2174924;5015867;5015905;5015907;5015909;5022578;5022651;5037552;5109281;5120594;5120596;5120598;5120600;5120602;5120726;5120728;5120730;5120732;5120734;5120736;5120738;5120742;5120744;5120746;5120748;5120750;5120752;5120754;5120756 A007D33;D11S2921;D1S1423;D1S1425;D22S929;D8S2279;GDB:312714;GDB:342145;GDB:361675;GDB:361678;GDB:361681;GDB:361684;GDB:361687;GDB:373334;GDB:373359;GDB:373365;GDB:373372;GDB:373379;GDB:373387;GDB:373398;GDB:373405;GDB:373416;GDB:373421;GDB:373633;GDB:373637;GDB:373641;GDB:373645;GDB:373650;GDB:373653;GDB:373656;GDB:373660;GDB:373663;GDB:373673;GDB:373677;Nf2;RH103956;RH27831;SHGC-30811;STS-L11353;WI-12398 ACN;BANF;SCH OTTHUMP00000028855;OTTHUMP00000199606;OTTHUMP00000199607;OTTHUMP00000199608;OTTHUMP00000199609;OTTHUMP00000199610;OTTHUMP00000199611;OTTHUMP00000199621;OTTHUMP00000199622;merlin;moesin-ezrin-radixin like;moesin-ezrin-radixin-like protein;moesin-ezrin-radizin-like protein;neurofibromatosis 2;neurofibromin 2 (bilateral acoustic neuroma);neurofibromin-2;schwannomerlin;schwannomin APPROVED protein-coding ENSG00000186575 HGNC:7773 06980 101000;162091;607174;607379 REVIEWED 733496 NFASC neurofascin This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009] 1 1 1 q32.1 177932899 178127015 + 204797782 204991950 + 204828654 205022822 + 6480464;8554872 11152476;11470829;11719549;11724816;11839274;12168954;12223548;12477932;1377696;14702039;15479642;15489334;15491607;16061393;16652168;16710414;17405145;17474147;17846150;19666467;20129933;20371806;20379614;20588308;21047790;21139048;22009740;22306302;22462667;22492029;22913984;23064961;23884033;24523485;24529757;8619474;8672144;8893017;8922386;8947556;9110174;9371782;9572267;9722619;9804856;9872452 23114 B4DRH7;D6RBU5;D6RHX4;H7BY57;H7C073;H7C0L6;O94856;X6RKN2 AA514945;AB018299;AB177861;ABBA01027435;ABBA01027436;ABBA01027437;ABBA01027438;AC096675;AF054995;AK027553;AK090639;AK097802;AK127424;AK128699;AK172728;AK295291;AK299262;AK308686;AL391822;AMYH02002539;AMYH02002540;AMYH02002541;AMYH02002542;AMYH02002543;BC008124;BC033367;BC035389;BC040674;BC117674;BC137013;BC144454;BC144455;BG702675;BX537841;BX641047;BX641048;CR749402;NG_029938;NM_001005388;NM_001005389;NM_001160331;NM_001160332;NM_001160333;NM_015090;XM_005244977;XM_005244985;XM_005244986;XM_005244989;XM_005244991;XM_005244992;XM_005244993;XM_005244996;XM_005244997;XM_006711226;XM_006711227;XM_006711228;XM_006711229;XM_006711230;XM_006711231;XM_006711232;XM_006711233;XM_006711234;XM_006711235;XM_006711236 AAH08124;AAI17675;AAI37014;AAI44455;BAA34476;BAB55195;BAC87577;BAD66839;BAG52203;BAG53530;BAG58275;BAG61289;CAD97852;CAH18247;NP_001005388;NP_001005389;NP_001153803;NP_001153804;NP_001153805;NP_055905;O94856;XP_005245034;XP_005245042;XP_005245043;XP_005245046;XP_005245048;XP_005245049;XP_005245050;XP_005245053;XP_005245054;XP_006711289;XP_006711290;XP_006711291;XP_006711292;XP_006711293;XP_006711294;XP_006711295;XP_006711296;XP_006711297;XP_006711298;XP_006711299 Hs.13349 1338448;1676598;1686887;1704464;1707556;1730099;1770214;2128752;2138391;2139806;2151058;2173059;2177202;2184675;5015961;5037552;5106293 AFM217xc7;D15S1477;D1S256;D1S2872;D8S2279;RH93142;RH99097;SHGC-30620;SHGC-76179;SHGC-76204;SHGC-76205;SHGC-76206;SHGC-76212;SHGC-76215;SHGC-82976;SHGC-84589;WI-20686 DKFZp686P2250;FLJ46866;KIAA0756;NF;NRCAML OTTHUMP00000065316;OTTHUMP00000065317;OTTHUMP00000065319;OTTHUMP00000065322;OTTHUMP00000065323;OTTHUMP00000065324;OTTHUMP00000217079;neurofascin homolog APPROVED protein-coding ENSG00000163531 HGNC:29866 12372 609145 REVIEWED 1317023 NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012] 20 20 20 q13.2 46712014 46883320 - 50003494 50179370 - 51386957 51562831 - 1579951;1580863;1627651;6480464;6484113;6907045;8554872 15336966;17596340 10089876;10207088;10611249;10737800;10821850;10944115;11030334;11231878;11356192;11438213;11780052;11877454;11911478;11932239;11956291;11982754;12021260;12093869;12453415;12477932;12482669;12560487;12594826;12656674;12788643;12949493;14657699;15117942;15121840;15144186;15184502;15271374;15292278;15347678;15471864;15632146;15668245;15790681;15857835;15897878;16169070;16260021;16455648;16473827;16497967;16505480;16690925;16849457;16873067;16888000;17082665;17237388;17237447;17398070;17463169;17584983;17588603;17711847;17785820;17875758;17882263;18029348;18097033;18097055;18218901;18246125;18641302;18675896;18676376;18710929;18931684;18962896;18973208;19060202;19192391;19286996;19318479;19318584;19458075;19505873;19564342;19833725;19843528;19900447;19913121;20093726;20097868;20139419;20219685;20237496;20367554;20368097;20379146;20379614;20448330;20557936;20609354;20628086;20677014;20834230;21047202;21176845;21278340;21282105;21325277;21576369;21628454;21799768;21803625;21964595;21983832;22045870;22077140;22079596;22116621;22333584;22363514;22422068;22446626;22593154;22627363;22699055;22718120;22767506;22787160;22911897;22986745;23060442;23227982;23326349;23359789;23665382;23762456;23817569;23918034;24106272;24136923;24173147;24477908;24529757;24561192;7650486;7757816;7842733;7887301;7957556;7999066;8202141;8397339;8668213;8814265;8834464;8889548;8943202;9111316;9143705;9498773;9510247;9625762;9660947;9845362 4773 B5B2P4;Q13469 ABBA01052794;ABBA01052795;ABBA01052796;ABBA01052797;ABBA01052798;ABBA01052799;ABBA01052800;ABBA01052801;ABBA01052802;ABBA01052803;AF484568;AK025758;AK226146;AK304147;AL035682;AL035684;AL132866;AMYH02037254;AMYH02037255;AMYH02037256;AMYH02037257;AMYH02037258;AMYH02037259;BC136418;BC144074;BE674599;BF914609;BM463165;BU429325;CD300621;CF136470;CH471077;CR993438;EU887573;EU887574;EU887575;EU887576;EU887577;EU887578;EU887579;EU887580;KF456943;KF456946;KF456949;KF510469;KF510472;NM_001136021;NM_001258292;NM_001258294;NM_001258295;NM_001258296;NM_001258297;NM_012340;NM_173091;U43341;U43342;XM_005260413;Z36756 AAC50886;AAC50887;AAI36419;AAI44075;ACG55593;ACG55594;ACG55595;ACG55596;ACG55597;ACG55598;ACG55599;ACG55600;BAH14117;EAW75602;EAW75603;NP_001129493;NP_001245221;NP_001245223;NP_001245224;NP_001245225;NP_001245226;NP_036472;NP_775114;Q13469;XP_005260470 Hs.744148 1334800;1647844;1666744;1687908;1691682;1709278;1744739;1756865;2134700 AL032542;D20S128E;D20S857;GDB:555597;RH36387;RH38986;SHGC-144024;SHGC-85834;STS-M78243 NFAT1;NFATP NF-ATc2;NFAT pre-existing subunit;NFAT transcription complex, preexisting component;OTTHUMP00000031291;OTTHUMP00000031292;T cell transcription factor NFAT1;T-cell transcription factor NFAT1;nuclear factor of activated T-cells, cytoplasmic 2;nuclear factor of activated T-cells, preexisting component;preexisting nuclear factor of activated T-cells 2 APPROVED protein-coding ENSG00000101096 HGNC:7776 02730 600490 REVIEWED 1349771 NFATC2IP nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein INVOLVED IN cytokine production (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; coumestrol; tert-butyl hydroperoxide 16 16 16 p11.2 27917598 27932949 + 28962318 28977786 + 28950997 28966465 + 737633;1580863;6480464 12477932 10878360;11435475;14559993;14702039;15489334;15698469;16964243;17081983;19471022;20410506;21890473;21906983;24816145;8943202 84901 H3BSZ7;Q8NCF5 ABBA01045680;ABBA01045681;ABBA01045682;AC109460;AF458593;AK027545;AK074761;AK094764;AK297333;AK304172;AK304606;AK316535;AL043335;AMYH02031819;AMYH02031820;BC010161;BC018311;BC021551;BC068007;BC080628;BC101741;BC112182;CH471267;CQ783653;NM_032815 AAH18311;AAH21551;AAH68007;AAH80628;AAI01742;AAI12183;AAM49721;BAB55189;BAC11189;BAH12551;BAH14125;BAH14223;BAH14906;CAF86795;EAW52014;EAW52015;NP_116204;Q8NCF5 Hs.513470 1675955;1683000;1683042;1683231;1716669;2161762;5022651;5037552 D11S2921;D8S2279;RH121593;RH48709;RH64927;RH64961;RH69718;STS-T99324 ESC2;FLJ14639;MGC126790;MGC138387;NIP45;RAD60 45 kDa NF-AT-interacting protein;45 kDa NFAT-interacting protein;NFATC2-interacting protein;OTTHUMP00000123395;nuclear factor of activated T-cells, cytoplasmic 2-interacting protein protein-coding ENSG00000176953 HGNC:25906 10971 614525 VALIDATED 1318613 NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010] 16 16 16 q22.2 52627801 52769327 + 68118654 68263162 + 68085366 68229259 + 1581961;1579951;1579956;6480464;6907045;8554872 15016802;15336966;9568714 10089876;10493829;11877454;11997392;12417987;12477932;12482669;12671993;12788643;14702039;15173172;15489334;16051665;16260021;16260608;16445977;16690925;17035332;17875713;18029348;18097055;18675896;18676376;18815128;19913121;20237496;20628086;21047202;21642596;22094256;22593154;22749879;22846573;22977251;23219532;23929433;24582564;7739550;7749981;7957556;7999066;8814265;9121455;9143705;9374467;9498773;9630228;9660947;9759864 4775 B5B2S0;B5B2S1;B5B2S3;B5B2S4;F8VPH9;H3BR83;H3BRM3;H3BRS1;H3BU30;I3L3K7;Q12968 AB209824;ABBA01025477;ABBA01025478;ABBA01025479;ABBA01025480;ABBA01025481;AC020978;AC130462;AK057574;AK290370;AMYH02032247;AMYH02032248;AMYH02032249;AX710570;BC001050;BE350846;BU849493;CA418693;CH471092;EU887605;EU887606;EU887607;EU887608;EU887609;EU887610;EU887611;EU887612;EU887613;EU887614;EU887615;EU887616;EU887617;EU887618;EU887619;EU887620;EU887621;EU887622;EU887623;EU887624;EU887625;KF456209;L41067;NG_029147;NM_004555;NM_173163;NM_173165;U14510;U85428;U85429;U85430 AAA79174;AAA86308;AAB46595;AAB46596;AAB46597;AAH01050;ABM86310;ACG55625;ACG55626;ACG55627;ACG55628;ACG55629;ACG55630;ACG55631;ACG55632;ACG55633;ACG55634;ACG55635;ACG55636;ACG55637;ACG55638;ACG55639;ACG55640;ACG55641;ACG55642;ACG55643;ACG55644;ACG55645;BAD93061;BAF83059;CAD88555;EAW83210;EAW83211;EAW83212;EAW83213;NP_004546;NP_775186;NP_775188;Q12968 Hs.436585 1648821;1668942;1676031;1682583;1738965;1767281;1769692;1771207;1778516;2149553;2171941;2171943;2187046;5016781;5017227 A002B46;D16S2915;G19908;G38154;RH16192;RH17654;RH64885;RH78919;RH79943;SGC32906;SHGC-35392;SHGC-58359;SHGC-60580;SHGC-60786;SHGC-67307 NF-AT4;NF-ATc3;NFAT4;NFATX OTTHUMP00000174860;OTTHUMP00000174861;OTTHUMP00000174862;T cell transcription factor NFAT4;T-cell transcription factor NFAT4;nuclear factor of activated T-cells c3 isoform IE-Xa;nuclear factor of activated T-cells, cytoplasmic 3 APPROVED protein-coding ENSG00000072736 HGNC:7777 04077 602698 REVIEWED 1315759 NFE2 nuclear factor, erythroid 2 ENCODES a protein that exhibits protein N-terminus binding; WW domain binding; INVOLVED IN blood circulation (inferred); blood coagulation (inferred); cell-cell signaling (inferred); FOUND IN actin cytoskeleton; nucleus; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; aclacinomycin A 12 12 12 q13 54337874 54346770 - 54685891 54718869 - 54292107 54325085 - 1580863;6480464 11154691;11318614;11863372;12196550;12477932;12490281;12509425;12805554;14966463;15489334;15572685;1569944;16169070;16287851;16763211;18029348;18718448;19416867;19820697;19901266;19966288;20211142;20236933;20339092;20467438;20854373;21232177;21609963;21988832;22139419;22174410;22231305;22855609;22968456;23341442;23445878;23589569;23661758;23670178;24026423;24297870;24336657;24383889;7724591;7774011;8107826;8248255;8355703;8816476;9150357;9166829;9305852;9753456 4778 A8K3E0;F8W1N9;Q16621 ABBA01008369;AC078778;AK290555;AK290564;AK313207;AMYH02026534;BC005044;BE243330;BT007288;BX406317;CH471054;CR450284;DQ367844;GD141614;JA885112;L13974;L24122;NM_001136023;NM_001261461;NM_006163;S77763;XM_005268906;XM_005268907 AAA16118;AAA35612;AAB34115;AAH05044;AAP35952;ABC79302;ABM84363;ABM87795;ABW03868;BAF83244;BAF83253;BAG36023;CAG29280;CCQ77681;EAW96771;EAW96772;EAW96773;NP_001129495;NP_001248390;NP_006154;Q16621;XP_005268963;XP_005268964 Hs.75643 1771919;2107435;2126490 NFE2_7837;RH44735;WI-7866 NF-E2;p45 OTTHUMP00000242012;OTTHUMP00000242013;OTTHUMP00000242015;leucine zipper protein NF-E2;nuclear factor (erythroid-derived 2), 45kD;nuclear factor (erythroid-derived 2), 45kDa;nuclear factor, erythroid-derived 2 45 kDa subunit;p45 NF-E2;transcription factor NF-E2 45 kDa subunit APPROVED protein-coding ENSG00000123405 HGNC:7780 09030 601490 VALIDATED 1321836 NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 14 14 14 q11.2 4700788 4713452 + 24834885 24848810 + 24366911 24379604 + 1580248;1580863;1579951;6480464;6907045;8554872 12939651;15336966 10089876;10611249;11439183;11514544;11877454;11997522;12477932;12482669;12787506;12788643;16219765;16260021;16344560;16489119;16645724;16690925;17044076;17081983;17194453;17213202;17875713;18029348;18034994;18097055;18668201;18675896;19026640;19653005;19784808;19913121;20101218;20237496;20385772;20467438;20628086;20881960;21047202;21081043;21606195;21988832;22164265;22234350;22378890;22593154;22977251;23563607;23703530;23888774;24255178;24257415;24302958;7749981;7957556;7999066;8814265;9143705;9568714;9660947 4776 G3V4K1;G3V4U6;G3V5H0;Q14934 ABBA01061342;ABBA01061343;AK293185;AK293873;AK300450;AK302271;AK309339;AK309907;AK310433;AK310445;AK311078;AK311425;AL096870;AMYH02028880;BC008857;BC037735;BC053855;BG723088;CH471078;DB372155;DC318153;DC403050;EU887632;EU887633;EU887634;EU887635;EU887636;EU887637;EU887638;EU887639;EU887640;EU887641;EU887642;EU887643;EU887644;EU887645;EU887646;EU887647;EU887648;EU887649;EU887650;EU887651;EU887652;EU887653;EU887654;EU887655;L41066;NM_001136022;NM_001198965;NM_001198966;NM_001198967;NM_001288802;NM_004554;XM_006720153 AAA79175;AAH08857;AAH53855;ABZ92167;ACG55652;ACG55653;ACG55654;ACG55655;ACG55656;ACG55657;ACG55658;ACG55659;ACG55660;ACG55661;ACG55662;ACG55663;ACG55664;ACG55665;ACG55666;ACG55667;ACG55668;ACG55669;ACG55670;ACG55671;ACG55672;ACG55673;ACG55674;ACG55675;BAG56726;BAG57262;BAG62171;BAG63617;EAW66020;NP_001129494;NP_001185894;NP_001185895;NP_001185896;NP_001275731;NP_004545;Q14934;XP_006720216 Hs.77810 1665568;1777341;1796406 NFATC4_1481;SHGC-57765;WI-11710 NF-AT3;NF-ATc4;NFAT3 OTTHUMP00000164787;OTTHUMP00000246434;OTTHUMP00000246435;OTTHUMP00000246436;OTTHUMP00000246437;OTTHUMP00000246438;OTTHUMP00000246439;OTTHUMP00000246440;OTTHUMP00000246441;OTTHUMP00000246442;OTTHUMP00000246443;OTTHUMP00000246444;OTTHUMP00000246445;OTTHUMP00000246446;OTTHUMP00000246447;OTTHUMP00000246448;OTTHUMP00000246449;OTTHUMP00000246450;OTTHUMP00000246451;OTTHUMP00000246452;T cell transcription factor NFAT3;T-cell transcription factor NFAT3;nuclear factor of activated T-cells, cytoplasmic 4 APPROVED protein-coding ENSG00000100968 HGNC:7778 09096 602699 REVIEWED 4144486 NFE2L3P1 nuclear factor, erythroid 2-like 3 pseudogene 1 18 18 18 q21.32 54353098 54357197 + 57635040 57639139 + 59967808 59972107 + 642996 ABBA01056175;AC090377;AMYH02034843;NG_011711 APPROVED pseudo HGNC:22278 INFERRED 737471 NF1 neurofibromin 1 This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 26342778 26625011 + 29421945 29704695 + 31045488 31377677 + 1580932;1580933;1302540;1302542;1302541;1580863;1302577;1300048;6480464;6484113;6907045;7240710;8554872;8699517 10591653;10973261;11279521;12469121;16138909;2134734 10220149;10336779;10553997;10607834;10625171;10712197;10721668;10862698;11140831;11258625;11356864;11704931;11727199;11727265;11735023;11748857;11751683;11754043;11857752;11896214;11896613;11934389;12073021;12077339;12095621;12152785;12191989;12199909;12368469;12387455;12438263;12477932;12483293;12522551;12552569;12566521;12660952;12707950;12730209;12746402;12807981;12872266;12963615;1302608;1329097;1339276;13679444;13680360;1457041;14647436;14722914;14988005;15096131;15146197;15146469;15233998;15302935;15342556;15371411;15389774;1550670;15520408;15523626;15523642;15583390;15627836;1568247;1570015;15735964;15767669;15944227;15988004;15999204;16005615;16081245;16083285;16116616;16169856;16199547;16344560;16374483;16380919;16405917;16467218;16470740;16479075;16565220;1662505;16644864;16648142;16741618;16773574;16813595;16830335;16835260;16835897;16908010;16914719;16944271;16944272;17036045;17053831;17096025;17102080;1715669;17160901;17187824;1719426;17200120;17216419;17295913;17299016;17353900;17404841;17426081;1745350;17514731;17563086;1757093;17581973;17668375;17726231;1783401;17876295;17880527;17914445;17960768;17999360;18021924;18055911;18086893;18172006;18183042;18212816;18214791;18215124;18218617;18316778;18331998;18407053;18484666;18485440;18503770;18511569;18546366;18592002;18802710;18948576;19041782;19048115;19061981;19120036;19142971;19144660;19215943;19220708;19221814;1923522;19238080;19291764;19292874;19351817;1937470;19417008;19449407;19601812;19650418;19718661;19773259;19845691;19913121;19940123;19946888;20002172;20006588;20015894;20052761;20082856;20124472;20129251;20160012;20160346;20164853;20301288;20301471;20301612;20358387;20379614;20422842;20428205;20435627;20442305;20503322;20505189;20513137;20543202;20571392;20587590;20602485;20624961;20628086;20655465;20680410;20687928;20725927;20927530;21048031;21089070;21139048;2114220;21142935;21157378;2116237;21199919;2121370;2121371;21236316;21244408;2125369;21278392;21280148;21283084;21337692;21365283;21478499;21551249;21674567;21728811;21732117;21782795;21890473;21903422;21931722;21963094;22015770;22096509;22105171;22108604;22125493;22190464;22207399;22240541;22241097;22250039;22293200;22294457;22354384;22399775;22412049;22488919;22573716;22581253;22585738;22586326;22700876;22751498;22807134;22837079;22925204;22945628;22962301;22965642;22965773;23000965;23010473;23047742;23077663;23082153;23135915;23145129;23165953;23171796;23222849;23244495;23288408;23292448;23312374;23335975;23407919;23423222;23437333;23460398;23481210;23528211;23583712;23624750;23668869;23758643;23906300;23913538;23947441;23954459;24186807;24218100;24249802;24250222;24255178;24334617;24361808;24370551;24375753;24576830;2491776;24922668;25182393;7519874;7570581;7633431;7633452;7649559;7686513;7774960;7874161;7903661;7904209;7959746;7981679;7981724;8069310;8081387;8176268;8317503;8417346;8544190;8602361;8619474;8628317;8664912;8807336;8825042;8825634;8834249;8836031;8931693;9002664;9003501;9101300;9110174;9150739;9298829;9300663;9529361;9639526;9668168;9706718 4763 B4DXH1;B4DXP1;H0Y465;J3KRT8;J3KSB5;J3KSX8;J3QLS2;J3QQN8;J3QSG6;K7EID4;K7EJE7;K7ENT2;K7EP94;P21359 AB195812;AB195813;AB209336;ABBA01014961;ABBA01014962;ABBA01014963;ABBA01014964;ABBA01014965;ABBA01014966;ABBA01014967;ABBA01014968;AC004222;AC079915;AC134669;AC135724;AC138207;AC139072;AF055023;AF086346;AK024873;AK026658;AK289936;AK301970;AK302063;AMYH02033291;AMYH02033292;AMYH02033293;AMYH02033294;AMYH02033295;AY796305;BC144643;BP271334;BX391799;BX537850;CH471147;CN415204;D10490;D12625;D42072;DA299151;DB094344;M38106;M38107;M60496;M60915;M61213;M82814;M89914;NG_009018;NM_000267;NM_001042492;NM_001128147;S51751;U17084;U17656;U17659;U17662;U17668;U17673;U17677;U17690;X73654;XM_005257983;XM_005257984;XM_006721922;XM_006721923;XM_006721924;XM_006721925;XM_006721926;XM_006721927;XM_006721928;Y07853 AAA56765;AAA59921;AAA59922;AAA59923;AAA59924;AAA59925;AAA59928;AAA74897;AAB24636;AAB48373;AAB48374;AAB48375;AAB48376;AAB48377;AAB48378;AAB48379;AAB48380;AAB59558;AAV50004;BAA01371;BAA02150;BAA07669;BAD92573;BAD98998;BAD98999;BAF82625;BAG63383;BAG63453;CAA52021;CAA69179;CAD97858;EAW80267;EAW80268;EAW80269;EAW80270;EAW80271;EAW80272;EAW80273;EAW80274;EAW80275;NP_000258;NP_001035957;NP_001121619;P21359;XP_005258040;XP_005258041;XP_006721985;XP_006721986;XP_006721987;XP_006721988;XP_006721989;XP_006721990;XP_006721991 Hs.113577 1341251;1644289;1651711;1653633;1653810;1663175;1681101;1682688;1687662;1688644;1741257;1741271;1741383;1741415;1742593;1742767;1742929;1743125;1743449;1743603;1743605;1743607;1743691;1743693;1743695;1743697;1743699;1743701;1743703;1743789;1745337;1751129;1783584;1789288;1791490;1791492;1794572;1794788;1794790;1849798;1855580;2106551;2111936;2114104;2116543;2126697;2126833;2135033;2141429;2146723;2158103;2163483;2178824;2218770;2219990;5016560;5016566;5016592;5117060;5117128;5117747;5117749;5117751;5117753;5117755;5117757;5117759;5117773;5117775;5117777;5117779;5117781;5117783;5117785;5117787;5119715;5120560;5120690;5123440;5123911 D17S1166;D17S1307;D17S1972;D17S2051;D17S2103;D17S2162;EVI2A_3977;G67878;GDB:179892;GDB:180293;GDB:180500;GDB:180964;GDB:181190;GDB:197914;GDB:204171;GDB:215865;GDB:270136;GDB:335505;GDB:360314;GDB:360317;GDB:360321;GDB:360325;GDB:371087;GDB:371100;GDB:371103;GDB:371120;GDB:371125;GDB:371128;GDB:371132;GDB:371135;GDB:373693;GDB:424477;GDB:437890;GDB:599487;GDB:603640;GDB:603651;GDB:603666;GDB:603672;GDB:603686;GDB:603690;GDB:603694;GDB:603705;GDB:606211;GDB:606231;GDB:606236;GDB:606245;GDB:606264;GDB:606270;GDB:606279;GDB:606294;GDB:606297;GDB:627944;L18228;NF1;NF1__6237;OMG__6111;PMC111054P1;PMC111054P2;PMC321440P1;PMC55792P1;PMC55792P2;RH17711;RH17724;RH18392;RH68271;RH68548;RH76220;RH78102;RH91562;RH98908;SGC35675;SHGC-104985;SHGC-155452;SHGC-30113;SHGC-34851;SHGC-57602;STS-N38894;UniSTS:495849;WI-18876;WI-9201 DKFZp686J1293;FLJ21220;NFNS;VRNF;WSS OTTHUMP00000163771;OTTHUMP00000163772;OTTHUMP00000166089;neurofibromatosis 1;neurofibromatosis-related protein NF-1;neurofibromin;neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) APPROVED protein-coding ENSG00000196712 HGNC:7765 01203 162200;162210;193520;601321;607785;613113 REVIEWED 1323705 NFE2L1 nuclear factor, erythroid 2-like 1 This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 42578502 42591724 + 46125686 46138907 + 48048324 48061545 + 1580863;6480464;8554872 11025215;12358155;12477932;12729924;12805554;15489334;16344560;16687406;16806233;17609210;20211142;20237496;20385086;20932482;20935630;21139048;21262351;21536885;21693764;21890473;21906983;21953459;21963094;21988832;22216197;22949513;22971132;23000965;23623971;23661758;23816881;24127568;24998528;7557987;8001966;8036168;8248256;8889548;8932385;9150357;9421508;9501099;9826775;9872330 4779 B4DYE1;F5H1B7;J3KRF3;J3KSE0;J3KSR3;J3KTG6;J3QKY3;J3QLQ1;J3QQH8;J3QQQ1;J3QQY8;J3QR31;J3QRG7;J9JIE5;Q14494;Q8NF22 ABBA01041152;AC004477;AK090459;AK294553;AK302387;AL833530;AMYH02033532;AMYH02033533;BC010623;BC131769;BM983473;BX647976;CH471109;DA230932;DB097304;L24123;NM_003204;U08853;X77366;X84060;X84061;X84062;X84063;X84064;X84065;X84066;XM_005257410;XM_005257411;XM_005257412;XM_005257413;XM_005257415 AAA20466;AAH10623;AAI31770;ABM84234;ABM85170;BAC03440;BAG57756;BAG63703;CAA54555;EAW94762;EAW94763;EAW94764;EAW94765;EAW94766;EAW94767;NP_003195;Q14494;XP_005257467;XP_005257468;XP_005257469;XP_005257470;XP_005257472 Hs.514284 5117166 GDB:451565 FLJ00380;LCR-F1;NRF1;TCF-11;TCF11 NF-E2-related factor 1;NFE2-related factor 1;locus control region-factor 1;nuclear factor (erythroid-derived 2)-like 1;nuclear factor erythroid 2-related factor 1;nuclear factor, erythroid derived 2, like 1;transcription factor 11 (basic leucine zipper type);transcription factor HBZ17;transcription factor LCR-F1 APPROVED protein-coding ENSG00000082641 HGNC:7781 01223 163260 VALIDATED 6768636 NFE2L3P2 nuclear factor, erythroid 2-like 3 pseudogene 2 17 17 17 q21.32 41950959 41955281 + 45500843 45504058 + 47423477 47426692 + 15146197;16344560 100272146 ABBA01041120;AC040934;AMYH02033523;AMYH02033524;NG_029197 APPROVED pseudo HGNC:44191 INFERRED 1319318 NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 54113571 54253111 + 69599869 69738569 + 69565966 69704666 + 6480464;6907045;8554872 10048485;10051678;10377394;10565538;10733904;11046013;11060450;11072102;11233530;11485737;11528118;11780147;11792870;11877454;11936849;12080349;12359721;12379312;12421765;12477932;12482947;12538727;14702039;15173573;15790681;15840767;16644704;16782704;17148781;17173480;17440116;18367666;18411282;18606815;19138132;19471022;19750013;19886771;19913121;20041176;20080774;20237496;20351292;20585028;20628086;20677014;20685965;21037089;21102462;21209322;21289293;21418859;21693764;21717420;21749466;21757659;21982764;22071693;22190034;22266867;22496647;22497815;22619484;22768306;22992674;23219947;23263486;23764852;24204828;8401585;8889549 10725 F6X8W2;H3BP21;J3KRL6;J3QKS5;O94916 AA291524;AA321843;AB020634;ABBA01025531;ABBA01025532;ABBA01025533;ABBA01025534;ABBA01025535;ABBA01025536;ABBA01025537;AC009032;AC012321;AF089824;AF134870;AF163836;AF346509;AJ005683;AJ005684;AJ243298;AJ243299;AK000312;AK001067;AMYH02032284;AMYH02032285;AMYH02032286;AMYH02032287;AMYH02032288;BC089395;BC131509;BC146765;BE737032;CH471092;HG508222;NG_029600;NM_001113178;NM_006599;NM_138713;NM_138714;NM_173214;NM_173215;U80231;XM_005255777;XM_006721125;Z97016 AAD00352;AAD18136;AAD38360;AAD48441;AAI31510;AAI46766;AAK91166;BAA74850;CAB09693;CAC42764;CAC42765;EAW83277;EAW83278;EAW83279;EAW83280;EAW83281;NP_001106649;NP_006590;NP_619727;NP_619728;NP_775321;NP_775322;O94916;XP_005255834;XP_006721188 Hs.371987 1673235;1674537;1690230;1720011;1738967;1783336;1788940;2109555;2124206;2124208;2140072;2148595;2172676;2182899;5014051;5022322;5037552 D11S2560;D16S2916;D8S2278;D8S2279;HUM000S343;NFAT5_227;RH123983;RH47171;RH47172;SGC32667;SHGC-141495;SHGC-151;SHGC-17239;SHGC-32665;SHGC-60799;STS-W61007;UniSTS:224902 KIAA0827;NF-AT5;NFATL1;NFATZ;RP11-311C24.1 NFAT-like protein 1;OREBP;OTTHUMP00000174893;OTTHUMP00000174894;T cell transcription factor NFAT5;T-cell transcription factor NFAT5;TONEBP;TonE-binding protein;glutamine rich protein H65;nuclear factor of activated T-cells 5;osmotic response element-binding protein;tonicity-responsive enhancer binding protein;tonicity-responsive enhancer-binding protein APPROVED protein-coding ENSG00000102908 HGNC:7774 05272 604708 REVIEWED 8656408 NFIA-AS1 NFIA antisense RNA 1 1 1 1 p31.3 60003008 60007520 - 61714458 61719190 - 61248945 61253518 - 14702039;25265644 645030 ABBA01074631;AC092784;AMYH02001122;AW172317;AX971534;HG492111;HG492112;HG492113;HY006887;LK938589;NR_104180 CAF16642 Hs.632410 ncrna ENSG00000237853 HGNC:40402 VALIDATED 1317092 NFE2L3 nuclear factor, erythroid 2-like 3 This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009] 7 7 7 p15.2 26180718 26215742 + 26191847 26226757 + 26152227 26187137 + 1580863;6480464;8554872 10037736;11286316;12477932;12853948;15385560;15388789;15489334;17976382;19047052;19913121;20237496;20379614;20628086;20935629;21906983;23251661;23583978;23661758;9847074 9603 Q9Y4A8;U3KQ19 AA603252;AB010812;ABBA01056745;AC004520;AF125534;AF133059;AF134891;AF135116;AMYH02015390;BC008645;BC015336;BC035762;BC049219;BC056142;BC068455;BX396198;CH236948;CH471073;NM_004289 AAF17228;AAF61404;AAF61415;AAG43275;AAH15336;AAH49219;AAH56142;AAH68455;AAP22344;BAA76288;EAL24236;EAW93833;NP_004280;Q9Y4A8 Hs.404741;Hs.712898 1675565;1711480;1739099;5113214 D7S2259;G49241;RH70778;RH76062 NRF3 NF-E2-related factor 3;NFE2-related factor 3;OTTHUMP00000122492;nuclear factor (erythroid-derived 2)-like 3;nuclear factor erythroid 2-related factor 3;nuclear factor, erythroid derived 2, like 3;nuclear factor-erythroid 2 p45-related factor 3;nuclear factor-erythroid 2-related factor 3 APPROVED protein-coding ENSG00000050344 HGNC:7783 09162 604135 REVIEWED 8656986 NFIA-AS2 NFIA antisense RNA 2 1 1 61419415 61420271 - 60940244 60970776 - 100996570 ABBA01074637;AC096534;AI051275;AL355795;AMYH02001117;BC030753;DA722202;HG492107;HG492108;NR_110617;NR_110618;XR_159043;XR_159344;XR_171169;XR_426697;XR_431171 Hs.46616 ncrna ENSG00000237928 HGNC:40401 VALIDATED 1345604 NFIL3 nuclear factor, interleukin 3 regulated The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. The encoded protein represses PER1 and PER2 expression and therefore plays a role in the regulation of circadian rhythm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014] 9 9 9 q22 64605969 64620785 - 94171327 94186908 - 91409045 91424626 - 1580863;6480464 10942106;12477932;12743120;12805554;1620116;16630563;17207965;18029348;18829486;18937294;19058789;19129193;19471022;19693801;19839995;20174623;20186462;20379614;21282530;21693764;21906983;22947103;23128233;23283977;23340290;23630076;23661758;24280221;7565758;8076819;8836190;9122243 4783 Q16649 ABBA01012853;ABBA01012854;AK313970;AL353764;AMYH02021205;AW163045;BC008197;BQ937243;CH471089;CR542049;DB256817;EF028070;HM204564;HY038941;NM_001289999;NM_001290000;NM_005384;S79880;U26173;X64318;XM_005251999;XM_005252000 AAA93067;AAB35410;AAH08197;ABK15691;ABM82031;ADK11690;ADQ31769;BAG36685;CAA45597;CAG46846;EAW62796;EAW62797;NP_001276928;NP_001276929;NP_005375;Q16649;XP_005252056;XP_005252057 Hs.79334 1658642;1659471 SGC31636;STS-X64318 E4BP4;IL3BP1;NF-IL3A;NFIL3A E4 promoter-binding protein 4;OTTHUMP00000021633;interleukin-3 promoter transcriptional activator;interleukin-3-binding protein 1;nuclear factor interleukin 3 regulated protein;nuclear factor interleukin-3-regulated protein;transcriptional activator NF-IL3A APPROVED protein-coding ENSG00000165030 HGNC:7787 05619 605327 REVIEWED 69148 NFIC nuclear factor I/C (CCAAT-binding transcription factor) The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA replication. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 19 19 19 p13.3 3296412 3400416 + 3359561 3469215 + 3359563 3469217 + 6480464;6484113;8554872 10085123;10327073;10737800;12221105;12477932;12624117;14684846;15057824;1524678;15302935;15342556;15489334;15851553;15999204;16189514;16847321;17081983;17186943;17936922;18421093;18765927;18775869;18809517;19322201;19471022;19505873;19706729;19752192;19755487;20145151;20379614;20881960;21139048;22195013;22242598;22420942;22939624;23208493;23839947;24324551;3398920;7590749;7961993;8628270;8710515;8889548;9099724;9417094 4782 B7Z4T6;P08651 ABBA01002817;ABBA01002818;ABBA01002819;ABBA01002820;ABBA01002821;ABBA01002822;ABBA01002823;ABBA01002824;ABBA01002825;AC005514;AC005551;AC005778;AC007792;AC093077;AC104104;AK129956;AK289885;AK297825;AK297867;AK304816;AL042511;AMYH02035249;AMYH02035250;AMYH02035251;AMYH02035252;AMYH02035253;AMYH02035254;AMYH02035255;AMYH02035256;BC012120;BE887429;BF763988;BI253961;BP279194;BQ894051;BU727954;CB053896;CH471139;CK431049;CR536507;KF456475;KF456476;NG_030333;NM_001245002;NM_001245004;NM_001245005;NM_005597;NM_205843;X12492;X92857;XM_005259563;XM_005259564;XM_006722759 AAC32593;AAC32594;AAC33190;AAC33191;AAC33192;AAC62842;AAH12120;ABM84581;ABM86721;BAC85258;BAF82574;BAH12672;BAH12681;BAH14259;CAA31012;CAA63440;CAG38745;EAW69323;EAW69324;EAW69325;EAW69326;NP_001231931;NP_001231933;NP_001231934;NP_005588;NP_995315;P08651;XP_005259620;XP_005259621;XP_006722822 Hs.170131 1677230;1763733;1773078;1778340;1851642;2142512;2151659;2177172;5092848;5093274 A008X33;A009K36;G32369;G32622;RH36034;RH47688;RH67057;RH70943;SHGC-147406;WI-12079 CTF;CTF5;MGC20153;NF-I;NF-I/C;NF1-C;NFI;NFI-C CCAAT-binding transcription factor;CCAAT-box-binding transcription factor;TGGCA-binding protein;nuclear factor 1 C-type;nuclear factor 1/C;nuclear factor i/c APPROVED protein-coding ENSG00000141905 HGNC:7786 600729 REVIEWED 69161 NFIX nuclear factor I/X (CCAAT-binding transcription factor) The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012] 19 19 19 p13.3 12996993 13100014 + 13106584 13209610 + 12995770 13098796 + 1580863;6480464;8699517;7240710;8554872 10636857;11046146;11068044;11896613;12477932;12624117;15057824;15342556;16009940;16565071;16928756;18754024;19416921;19418463;19706729;20150379;20673863;21189253;21953450;22301465;22422452;22925353;23455924;24654937;7590749;7937100;8340106;8799200;9079676;9099724;9380514 4784 B4DHW2;C9JWJ8;D2DXM9;K7EJB0;K7EKH0;K7EMQ5;K7EN08;K7EPU2;K7ESG9;Q14938;X6R5U1 ABBA01029755;ABBA01029756;AC004660;AC007787;AC022152;AC138474;AK295290;AK297261;AMYH02035565;AMYH02035566;AMYH02035567;BC036885;BC117113;BC117115;BF115883;BP228658;BT019732;BX537794;CH471106;FJ861276;KF456509;L31881;NG_032925;NM_001271043;NM_001271044;NM_002501;U07811;U18759;U18760;U18761;XM_005259917;XM_005259918;XM_005259919;XM_005259920;XM_005259921;XM_005259922;XM_006722760 AAA53422;AAA93126;AAB52369;AAB52370;AAB52371;AAC15752;AAD38240;AAD38241;AAI17114;AAI17116;AAV38537;ACV82593;ADR83159;BAG58274;BAG59737;CAD97845;EAW84338;EAW84339;EAW84340;EAW84341;EAW84342;NP_001257972;NP_001257973;NP_002492;Q14938;XP_005259974;XP_005259975;XP_005259976;XP_005259977;XP_005259978;XP_005259979;XP_006722823 Hs.257970 1680675;1713979;1719995;1728893;1739531;1771366;2125543;5017619;5126433 D19S817;G49214;NFIX;RH119419;RH123975;RH18298;RH66061;RH91530;STS-N23687 CTF;MRSHSS;NF-I/X;NF1-X;NF1A;NFI-X;SOTOS2 CCAAT-box-binding transcription factor;TGGCA-binding protein;nuclear factor 1 X-type;nuclear factor 1/X;nuclear factor i/x APPROVED protein-coding ENSG00000008441 HGNC:7788 01234 164005;602535;614753 REVIEWED 69144 NFIA nuclear factor I/A This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 1 1 1 p31.3-p31.2 59831591 60216841 + 61542946 61928460 + 61077274 61462788 + 1580863;6480464;6484113;8554872 10085123;10518556;10718198;12107410;12477932;14702039;15146197;15302935;15458926;15466411;15598822;15684392;16325577;16710414;17010934;17081983;17530927;18029348;19322201;19505873;19540848;19542302;19913121;20190752;20379614;20628086;21076409;21738484;21829377;22031302;22807310;22925353;22939629;23408906;23463857;23946414;24305710;24462883;7590749 4774 B1AKN5;B1AKN6;B1AKN7;B1AKN8;Q12857;S4R308;S4R3K4;S4R3K5;S4R3W2;S4R3W6 AA974652;AB037860;ABBA01074628;ABBA01074629;ABBA01074630;ABBA01074631;ABBA01074632;ABBA01074633;ABBA01074634;ABBA01074635;ABBA01074636;AC092784;AC096534;AC096947;AF086381;AI799785;AK024964;AK096483;AK299289;AK299356;AK299579;AL096888;AL133665;AL445198;AL445432;AMYH02001120;AMYH02001121;AMYH02001122;AMYH02001123;AMYH02001124;AW014151;BC022264;BX537823;CA398137;CA411638;CH471059;CN372139;DB544485;KF495971;KF495972;NG_011787;NM_001134673;NM_001145511;NM_001145512;NM_005595;U07809 AAA93124;AAH22264;ABM84176;ABM87578;BAA92677;BAG61305;BAG61351;BAG61515;CAH56387;EAX06601;EAX06602;EAX06603;EAX06604;NP_001128145;NP_001138983;NP_001138984;NP_005586;Q12857 Hs.740757;Hs.744898 1335024;1335619;1339522;1342198;1645832;1647023;1647654;1652683;1665542;1673106;1675712;1676856;1683233;1687822;1692436;1693176;1696346;1698754;1704778;1705016;1713171;1716299;1734572;1759093;1765299;1767977;1768752;1773691;1774889;1775440;1781852;1847277;1850437;2118600;2127257;2129173;2138366;2150688;2161360;2162493;2166621;2168208;2171083;2172636;2173365;2185654;2219994 AL009354;AL009378;AL009559;AL009964;AL033583;AL033867;B346ZB5;D18S934E;D1S2452;D1S2788;D1S2822;D1S2846;D1S3419;D1S3502;D1S473;G35307;HSC24E062;NFIA__6239;RH102940;RH120372;RH121179;RH16390;RH35947;RH44635;RH80050;RH80440;RH92747;SHGC-148794;SHGC-150582;SHGC-1565;SHGC-17235;SHGC-34001;SHGC-34690;SHGC-57907;SHGC-74813;SHGC-74896;SHGC-74903;SHGC-74919;SHGC-74920;SHGC-74922;SHGC-74925;SHGC-74932;SHGC-77778;SHGC-78024;SHGC-79855;SHGC-84024;WI-14257 CTF;DKFZp434L0422;DKFZp686J23256;FLJ39164;KIAA1439;NF-I/A;NF1-A;NFI-A;NFI-L CCAAT-box-binding transcription factor;OTTHUMP00000010071;OTTHUMP00000010290;OTTHUMP00000010292;OTTHUMP00000010293;OTTHUMP00000010294;OTTHUMP00000010295;TGGCA-binding protein;nuclear factor 1 A-type;nuclear factor 1/A APPROVED protein-coding ENSG00000162599 HGNC:7784 09007 600727 REVIEWED 733820 NFIB nuclear factor I/B ENCODES a protein that exhibits DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; INVOLVED IN negative regulation of DNA binding; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; PARTICIPATES IN forkhead class A signaling pathway; FOUND IN nucleolus; nucleus; cerebellar mossy fiber (ortholog); INTERACTS WITH 17beta-estradiol; 5-fluorouracil; all-trans-retinoic acid 9 9 9 p24.1 14015384 14332471 - 14081842 14398982 - 14081843 14398983 - 1580863;6480464;6484113 12477932;12624117;12639247;14702039;15342556;15489334;16344560;17511965;18029348;18663748;18809517;19322201;19540848;19837271;19841262;19913121;20628086;20702610;21087353;21110914;21139048;21532573;21608007;21618541;21764851;21901247;21925980;21976542;22180456;22505352;22952844;23161775;23419831;24457600;7590749;9099724;9484777 4781 O00712;Q5VW26;Q5VW27;Q5VW28;Q5VW30;Q5VW31;Q5W0Y9;U3KPY9;U3KQE8 ABBA01065299;ABBA01065300;ABBA01065301;ABBA01065302;ABBA01065303;ABBA01065304;ABBA01065305;ABBA01065306;AF022215;AI140312;AK094066;AK129782;AK131233;AK290603;AK299605;AL110126;AL136366;AL137017;AL441963;AL449443;AMYH02019187;AMYH02019188;AMYH02019189;AMYH02019190;AMYH02019191;AMYH02019192;AMYH02019193;BC001283;BC024316;BP372854;BT007266;BX537698;BX537707;BX648416;BX648845;CD251577;CH471071;DA783871;DA785516;NM_001190737;NM_001190738;NM_001282787;NM_005596;U07810;U70862;U85193;XM_005251467;XM_005251468;XM_005251469;XM_005251470;XM_005251471;XM_006716773;XM_006716774;XM_006716775 AAA93125;AAB41899;AAB51197;AAB82594;AAH01283;AAP35930;ABM82023;ABM85205;ACE86804;ACE87491;BAD18416;BAF83292;BAG61536;CAH56156;EAW58694;EAW58695;EAW58696;EAW58697;EAW58698;EAW58699;NP_001177666;NP_001177667;NP_001269716;NP_005587;O00712;XP_005251524;XP_005251525;XP_005251526;XP_005251527;XP_005251528;XP_006716836;XP_006716837;XP_006716838 Hs.644095 1337793;1337821;1671141;1674278;1675263;1685367;1701442;1707908;1711054;1712605;1715189;1717953;1723589;1725137;1735934;1739353;1759213;1762333;1766669;1777585;1785480;2141317;2190503;2191361;5021937;7186717 A004O32;A006V16;D8S1564E;D9S1065E;D9S1869;D9S2012;D9S274;EST12E1;MARC_17865-17866:1025013775:1;Nfib;RH104353;RH118871;RH119845;RH120407;RH122803;RH123249;RH78074;RH80854;SHGC-146176;SHGC-149957;SHGC-151148;SHGC-152211;SHGC-82205;SHGC-86156;WI-14235 CTF;HMGIC/NFIB;NF-I/B;NF1-B;NFI-B;NFI-RED;NFIB2;NFIB3 CCAAT-box-binding transcription factor;OTTHUMP00000022765;OTTHUMP00000022766;OTTHUMP00000022767;OTTHUMP00000022768;OTTHUMP00000022769;TGGCA-binding protein;nuclear factor 1 B-type;nuclear factor 1/B protein-coding ENSG00000147862 HGNC:7785 09008 600728 VALIDATED 7286068 NFE4 nuclear factor, erythroid 4 The erythroid-specific protein encoded by this gene, and the ubiquitous transcription factor CP2, form the stage selector protein (SSP) complex, which is involved in preferential expression of the gamma-globin genes in fetal erythroid cells. Alternate use of an in-frame upstream non-AUG (CUG) translation initiation codon, and a downstream AUG codon, results in two isoforms. While the long isoform (22 kDa) acts as an activator, the short isoform (14 kDa) has been shown to repress gamma-globin gene expression. This gene is located in an intron of the FBXL13 gene on the opposite strand. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 97421739 97426969 + 102613884 102619114 + 102973437 102978667 + 6480464 11003662;15084587;15273251;16263792;19234465;22689669 58160 Q86UQ8 ABBA01057996;AC073127;AMYH02016447;AY258907;BC036938;NM_001085386 AAP13531;NP_001078855;Q86UQ8 Hs.621233 NF-E4 fetal globin activator NF-E4;gamma-globin gene activator;transcription factor NF-E4 protein-coding HGNC:29902 612133 REVIEWED 1603004 NFKBID nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta ENCODES a protein that exhibits NF-kappaB binding (inferred); INVOLVED IN inflammatory response (inferred); negative regulation of I-kappaB kinase/NF-kappaB signaling (inferred); negative regulation of NF-kappaB transcription factor activity (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); benzo[a]pyrene; silicon dioxide 19 19 19 q13.12 33093331 33105743 - 36378854 36393205 - 35887952 35900650 - 6480464 12477932;14702039 84807 K7EKM2;K7ENW9;Q8NI38 ABBA01018772;AD000864;AF385433;AF385434;AK126825;AMYH02035992;AMYH02035993;AMYH02035994;BC006273;BC119646;BC119647;KF454879;NM_139239;XM_005259340;XM_006723444 AAH06273;AAI19647;AAI19648;AAM43834;AAM43835;NP_640332;Q8NI38;XP_005259397;XP_006723507 Hs.466531 1689181;1712034;5015404;5015861;5015961;5016478;5020229;5020740;5022322;5022578;5037552;7185938 D10S16;D11S2560;D15S1477;D1S1423;D8S2279;GDB:434012;L17705;L17770;L17809;RH118714;RH98854 MGC11314;MGC149503;TA-NFKBH;ikB-delta I-kappa-B-delta;IkappaBNS;NF-kappa-B inhibitor delta;T-cell activation NFKB-like protein;ikappaBdelta protein-coding ENSG00000167604 HGNC:15671 18140 PROVISIONAL 1316230 NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 10 10 10 q24 97895118 97903169 + 104153867 104162286 + 102394110 102402529 + 1580863;2292172;2302394;2302392;2298775;6480464;6484113;6907045;8699517;7240710;8554872 17250675;18267068;18534259;18633731 10207088;10225209;10384093;10393859;10400814;10446807;10480634;10562553;10580107;10597218;10644332;10644726;10671224;10713675;10723127;10799874;10823818;10830747;11044099;11160671;11239468;11241736;11299302;11385624;11468175;11511100;11522182;11526476;11579140;11704662;11707390;11827962;11833470;11980335;11994270;12040437;12167619;12185077;12351572;12352969;12374738;12389034;12427593;12473373;12477932;12482669;12485413;12505990;12524526;12697057;12808109;12835724;12874295;12894228;12917325;12927781;14532284;14576817;14676825;14678988;1473734;14743216;1505523;15103018;15140882;15164054;15258149;15310758;1531086;15469820;15485830;15489334;15629778;15677444;15677466;15782119;15799966;1583734;16009713;16108830;1612589;16223731;16260623;16303288;16344560;16368877;16385451;16477006;16613850;16651533;16751281;16940298;16990795;17003035;17028057;17039258;17183367;17197385;17237370;17254973;17292587;17363471;17476277;17548614;17563756;1760839;17703412;17715223;17962807;18025196;18025803;18029348;18160848;18321863;18377428;18383001;18434448;18466468;18538010;18550535;18617892;18660489;1876189;18781579;18818748;18971284;19098713;19219072;19258923;19302050;19471022;19479051;19524538;19527514;19542561;19573080;19591173;19773279;19860880;19913121;19948975;20037209;20038584;20211142;20301476;20346360;20353939;20388792;20448286;20460684;20503287;20558726;20568250;20598117;20628086;20628624;20708837;20734064;20800578;21048223;21131783;21139048;21228035;21325409;21846842;21871426;21906983;21963094;21987572;21988832;22017875;22083306;22096027;22198284;22341466;22388891;22435556;22642622;22708077;22734038;22797925;22864569;22879398;23211527;23219896;23301098;23383273;23389097;23453579;23524849;23699654;23873932;23974100;24008839;24140114;24242887;24355259;24654937;24816145;7478612;7494249;7541912;7597296;7690421;7729429;7800480;7823959;7838536;7859743;7925301;7933095;7949142;7969113;8036016;8108127;8108136;8113688;8152812;8207793;8208540;8336950;8360178;8378093;8413211;8423996;8441377;8453667;8615004;8627654;8676466;8709193;8717528;8724035;8834464;8887665;9021684;9110146;9135156;9264393;9278385;9315679;9359707;9384586;9407099;9510190;9523851;9525916;9529131;9566873;9730685;9792375;9895331 4791 AAB23437;M0QZX1;M0R119;Q00653 ABBA01063159;ABBA01063160;AK098415;AK292654;AL121928;AMYH02023694;AMYH02023695;AY865619;BC002844;BT009769;BY799958;CH471066;DA349980;DA408461;DA711063;DB091090;HI573866;HI573868;HI573870;NG_033874;NM_001077494;NM_001261403;NM_001288724;NM_002502;S76638;U09609;U20816;X61498;X61499;XM_005269860;XM_005269861;XM_006717869 AAA21462;AAA68171;AAB21124;AAB23437;AAH02844;AAP88771;AAW56071;BAF85343;CAA43715;CAA43716;CBX47422;CBX47423;CBX47424;EAW49700;EAW49701;EAW49702;EAW49703;EAW49704;EAW49705;EAW49706;NP_001070962;NP_001248332;NP_001275653;NP_002493;Q00653;XP_005269917;XP_005269918;XP_006717932 Hs.73090 1651721;1745959;2113950;2159899 A007E10;AB055379;AI426354;RH78118 CVID10;H2TF1;LYT-10;LYT10;NF-kB2;p100;p105;p52 DNA-binding factor KBF2;NFKB, p52/p100 subunit;OTTHUMP00000020371;OTTHUMP00000059136;lymphocyte translocation chromosome 10 protein;nuclear factor Kappa-B, subunit 2;nuclear factor NF-kappa-B p100 subunit;nuclear factor NF-kappa-B p52 subunit;nuclear factor of Kappa light chain gene enhancer in B cells 2;nuclear factor of kappa light chain gene enhancer in B-cells 2;oncogene Lyt-10;transcription factor NFKB2 APPROVED protein-coding ENSG00000077150 HGNC:7795 01239 164012;615577 REVIEWED 1352834 NFKBIE nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011] 6 6 6 p21.1 45779052 45786678 - 44225903 44233525 - 44258166 44265788 - 1580863;2292172;6480464;6907045 18267068 10706725;10998424;11970947;12361703;12477932;14595753;14743216;15536134;16189514;16716191;16769727;17463416;17976673;18029348;18434448;18676680;18818748;19019335;19170196;19527514;19573080;19625176;19692168;19773279;19913121;19948975;20056178;20140262;20448286;20568250;20628086;20711808;21988832;22446963;22939629;23028356;23615073;24390342;24816145;8139561;8415639;9135156;9223487;9315679 4794 H0Y4W4;H3BNC2;O00221;Q96F31 ABBA01050642;AF261937;AK130739;AK301360;AL139392;AMYH02013657;AY779755;BC011676;BC063609;BG759212;BX367256;CH471081;NM_004556;U91616 AAC51216;AAH11676;AAH63609;AAI66665;AAM27002;AAV31776;BAC85418;BAH13464;EAX04262;EAX04263;EAX04264;NP_004547;O00221 Hs.458276 1664633;1786090;2148319;2167183;2217666 D6S1157E;NFKBIE_3084;RH15775;SHGC-156273;SHGC-32848 I-kappa-B-epsilon;IKBE;NF-kappa-BIE;ikB-E;ikB-epsilon NF-kappa-B inhibitor epsilon;OTTHUMP00000016522;ikappaBepsilon APPROVED protein-coding ENSG00000146232 HGNC:7799 05181 604548 REVIEWED 1351897 NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] 6 6 6 p21.3 33112858 33124825 + 31514628 31526606 + 31546851 31558829 + 6480464;7240710;8554872 10202016;10369924;11113070;12477932;12509789;12618859;14574404;14989711;15018649;15843211;15969671;16101831;16634865;16644022;16720219;16804398;17119950;17353931;17485095;17517687;17544510;17847930;17855452;18029348;18295675;18987644;19143814;19158815;19165231;19242354;19578685;19773279;19851445;19886988;19913121;20379614;20568399;20587610;20628086;20662065;20854863;20933106;21988832;22210660;23128233;23953137;8081366;8499947;9480751 4795 A8K778;F2Z390;Q5STV6;Q9UBC1 AB088115;AB103621;AB202112;ABBA01038081;AF097419;AF097420;AF097421;AF097422;AF097423;AF097424;AF097425;AF097426;AF097427;AF097428;AF097429;AK291893;AK300818;AK313888;AL662801;AL662847;AL929587;AMYH02013452;BA000025;BC105064;BC105068;BC143671;BM044744;BX001040;BX248516;BX927320;CH471081;CR753892;CR942185;DC370256;NG_012344;NM_001144961;NM_001144962;NM_001144963;NM_005007;X77909;Y14768 AAD38108;AAD38109;AAD38110;AAD38111;AAD38112;AAD38113;AAD38114;AAD38115;AAD38116;AAD38117;AAD38118;AAI05065;AAI05069;AAI43672;ABZ92040;BAB63398;BAC54951;BAE78635;BAF31285;BAF84582;BAG62473;CAA54867;CAA75072;EAX03417;EAX03418;EAX03419;EAX03420;EAX03421;NP_001138433;NP_001138434;NP_001138435;NP_004998;Q9UBC1 Hs.2764 2119048;2185285 RH46868;STS-X77909 IKBL;LST1;NFKBIL I-kappa-B-like protein;NF-kappa-B inhibitor-like protein 1;OTTHUMP00000029044;OTTHUMP00000029045;OTTHUMP00000165888;ikappaBL;inhibitor of kappa B-like protein;inhibitor of kappa light chain gene enhancer in B cells-like APPROVED protein-coding ENSG00000204498 HGNC:7800 07043 180300;601022 REVIEWED 1350232 NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p12-q12 99940218 99973254 + 101546834 101579869 + 101827990 101861025 + 737633;6480464 12477932 11278262;11356851;12565889;14702039;15241416;15522867;15618216;16344560;16513645;16622025;17447895;18362142;18436238;18813073;18850010;19595668;19707556;19783680;19798075;20211142;20650996;21224476;21833088;21988832;22059479;23869088;23898208;24027435 64332 C9J5G8;C9J5I7;C9JZ23;H7C5S1;Q9BYH8 AB037925;AB074898;ABBA01061766;ABBA01061767;AC020651;AF548362;AK054787;AK091782;AMYH02007318;AW004900;BC014587;BC060800;BM050734;BX492097;CH471052;DA541852;DQ224339;NM_001005474;NM_031419 AAH60800;AAN40698;ABB02425;BAB40337;BAC03746;BAG51424;EAW79771;EAW79772;EAW79773;NP_001005474;NP_113607;Q9BYH8 Hs.319171 1653607;1663809;1735098;1764113;2114602;2175679 D3S2778E;RH79096;SHGC-147762;SHGC-34272;SHGC-36176;SHGC-77168 FLJ30225;FLJ34463;IKBZ;INAP;MAIL I-kappa-B-zeta;IL-1 inducible nuclear ankyrin-repeat protein;Ikappa B-zeta variant 3;IkappaB-zeta;NF-kappa-B inhibitor zeta;OTTHUMP00000214320;OTTHUMP00000214321;OTTHUMP00000214324;OTTHUMP00000214340;ikB-zeta;ikappaBzeta;molecule possessing ankyrin repeats induced by lipopolysaccharide APPROVED protein-coding ENSG00000144802 HGNC:29805 09217 608004 REVIEWED 1317241 NFU1 NFU1 iron-sulfur cluster scaffold This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 2 2 2 p15-p13 69473252 69514522 - 69623245 69664760 - 69396113 69438071 - 6480464;7240710;8554872;8699517 10810093;11342215;12477932;12886008;12915448;16169070;16341674;18029348;18654987;19146390;19722697;20877624;21944046;22077971;22190034;23179554;24250222 27247 C9J8Q1;F8W9P7;F8WAV1;F8WET4;H7C537;Q9UMS0 AA625581;ABBA01075499;ABBA01075500;ABBA01075501;ABBA01075502;ABBA01075503;ABBA01075504;AC114772;AF132967;AI129426;AJ132584;AK300700;AK308567;AK314004;AMYH02004020;AMYH02004021;AMYH02004022;AY286306;AY286307;AY335194;BC113692;BC113694;BG385940;BM846341;BU178674;BU507991;BX538347;CH471053;DB496651;NG_031931;NM_001002755;NM_001002756;NM_015700;NR_045631;NR_045632;XM_006711988 AAD27742;AAI13693;AAI13695;AAP92372;AAP92373;AAQ73784;AAY14828;ADR83501;BAG36716;BAG62381;CAB53015;CAD98142;EAW99849;EAW99850;NP_001002755;NP_001002756;NP_056515;Q9UMS0;XP_006712051 Hs.430439 2135122;2176139;5015619;5016478;5022200;5037552;5093536 A009Q20;D11S3114;D8S2279;G32776;GDB:434012;L18426;RH79097 CGI-33;HIRIP5;MGC142252;MGC142254;MMDS1;Nfu;NifU HIRA interacting protein 5;HIRA-interacting protein 5;HIRIP;NFU1 iron-sulfur cluster scaffold homolog, mitochondrial;NIFUC;NifU-like C-terminal domain containing;OTTHUMP00000202180;OTTHUMP00000202204;OTTHUMP00000214438;OTTHUMP00000214439;OTTHUMP00000214465;OTTHUMP00000214466;iron-sulfur cluster scaffold protein APPROVED protein-coding ENSG00000169599 HGNC:16287 12163 605711;608100 REVIEWED 732611 NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these proteins by kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2011] 19 19 19 q13.1 36193052 36201968 + 39390340 39399534 + 38899507 38908894 + 1580863;2292172;6480464;6907045 18267068 10480634;10498867;10514424;10580107;10657303;10706725;10723127;10799874;11485410;11500849;11511100;11839392;12034707;12424381;12475944;12477932;12651903;12672800;14685242;14743216;15024091;15103018;15276183;15308628;15489334;15536134;15601829;15917220;15919917;16344560;17463416;18356846;18434448;18636124;18818748;18950638;19453261;19500386;19527514;19913121;19948975;20056178;20140262;20448286;20628086;20716621;20801175;20819778;21670849;21832049;21862596;21988832;22081069;23453579;23824909;24816145;7776974;8615004;8657102;8709193;8816457;8887627;8889549;9135156;9252186;9278383;9346485;9452433;9689078;9721103;9763672 4793 G5E9C2;H0YFH0;I3L1A4;I3L4X3;Q15653 AA044256;AB209784;AB362577;ABBA01040709;AC011455;AI684894;AK057862;AK290569;AMYH02036082;AMYH02036083;AY736284;BC007197;BC015528;BI520169;BM008311;BM449613;BQ440907;BT006743;BU150265;BU634404;BX111397;CH471126;DA633677;L40407;NG_029624;NM_001243116;NM_002503;NR_040515;XM_006723226;XM_006723227 AAC41742;AAH07197;AAH15528;AAP35389;AAU10088;ABM84730;ABM92250;BAB71599;BAD93021;BAF81542;BAF83258;EAW56839;EAW56840;EAW56841;EAW56842;EAW56843;NP_001230045;NP_002494;Q15653;XP_006723289;XP_006723290 Hs.9731 1687872;5015961;5037552 D15S1477;D8S2279;RH93707 I-kappa-B-beta;IKBB;NF-kappa-BIB;TRIP-9;TRIP9;ikB-B;ikB-beta;ikappaBbeta NF-kappa-B inhibitor beta;TR-interacting protein 9;thyroid receptor-interacting protein 9 APPROVED protein-coding ENSG00000104825 HGNC:7798 07260 604495 REVIEWED 7174895 NFU1P1 NFU1 iron-sulfur cluster scaffold pseudogene 1 3 3 3 p22.1 39627525 39628186 + 39685531 39686193 + 39644040 39644702 + 100132681 ABBA01024799;AC104444;AMYH02006589;NG_022247 2176139;5093536 A009Q20;G32776 APPROVED pseudo HGNC:44553 INFERRED 735440 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011] 14 14 14 q13 15734587 15737850 - 35870716 35873960 - 35401510 35404754 - 1580863;2292172;2298893;2298898;2298894;2298895;2298905;2298900;6480464;5147676;6484113;6907045;7240710;8554872;8699517 10340377;10556199;12377412;15198731;16006567;16540234;17492467;18267068 10023675;10026139;10066434;10066435;10075690;10085062;10085161;10094049;10102628;10230406;10329681;10362352;10393859;10398585;10421793;10480634;10498867;10514433;10521480;10570937;10580107;10582246;10635328;10637284;10644755;10655476;10657303;10706725;10713156;10723127;10733566;10747850;10783893;10848576;10869418;10882136;10928981;10930447;10968793;10969074;11020244;11027288;11042193;11064457;11080499;11095741;11106428;11113112;11231305;11278695;11287411;11313474;11415944;11483504;11493922;11511100;11533489;11572859;11696595;11799106;11809792;11830587;11913973;11931770;11950839;11959143;11983170;12028809;12054687;12084717;12086926;12138192;12151397;12165731;12167702;12190313;12193729;12244195;12297126;12324474;12388747;12406554;12411322;12419805;12419806;12429743;12433922;12477728;12477932;12486103;12518988;12589049;12620896;12651903;12704657;12709429;12711606;12748192;12897149;12921778;12943667;12944982;12972430;12973300;13680285;1427874;14500727;14523047;14534291;14561767;14576361;14623898;14685242;14690596;14743216;1493333;14961554;15068390;15073126;15084260;15103018;15125834;15142381;15161102;15173174;15173580;15184376;15202778;15218148;15247916;15276183;15330761;15337789;15389589;15389633;15489334;15536134;15590691;15601829;15613239;15657065;15670770;15671028;15671221;15725353;15746428;15749833;15782119;15799966;15808510;15811852;15817944;15856023;15858823;15917220;15979856;16001969;16046415;16098527;16105840;16169070;16189514;16195219;16210649;16236267;16258173;16286467;16291755;16319058;16354686;16371367;16378096;16407234;16426569;16429138;16481475;16547522;16573520;16611882;16648481;16737960;16750872;16756995;16919536;16931600;16938301;16951195;16955245;16997282;17003112;17053167;17060341;17062574;17079871;17115186;17148610;17284228;17307728;17316064;17318178;17318773;17333217;17351338;17354114;17363905;17363973;17379600;17384642;17463416;17593226;17607549;17612295;17681786;17701919;17703412;17910475;17942396;17956732;17991436;18003900;18029348;18045535;18071880;18074035;18199400;18215193;18255255;18260825;1829648;18356846;18429822;18434448;18474597;18501560;18503636;18511071;18515365;18519641;18555796;18600435;18606063;18636124;18636537;18660489;18672082;18716880;18818748;18949366;18950845;18957422;18981174;18981184;19019440;19046417;19053519;19187648;19206148;19213954;19219072;19222990;19223558;19245366;19258923;19296948;19297320;19363678;19453261;19456861;19494296;19500386;19507254;19522780;19527514;19543524;19554506;19573080;19591507;19622906;19625650;19648161;19673747;19733238;19758175;19773279;19773451;19797428;19798070;19816602;19879840;19886988;19891769;19913121;19933270;19941056;19948975;20012522;20056178;20065107;20068069;20080849;20132559;20133937;20164548;20193848;20237821;20304615;20335171;20347421;20353940;20379146;20379614;20385620;20388715;20434986;20448286;20449947;20453000;20495844;20503287;20546338;20551178;20558726;20563630;20568250;20628086;20628624;20638939;20652762;20659425;20674643;20696864;20716621;20797629;20811626;20836841;20890592;20932476;20953189;20953190;20980497;21048031;21175304;21175585;21217772;21220295;21228035;21263074;21376060;21451109;21454528;21606193;21664225;21712995;21778941;21811235;21862596;21896478;21906983;21951552;21963094;21988832;22022389;22078572;22081069;22156201;22184009;22187158;22302838;22388891;22393418;22509384;22590978;22605335;22685297;22935973;22990857;23001849;23046941;23054188;23069812;23250755;23251686;23274114;23284737;23285182;23322360;23377923;23383273;23393163;23422506;23439505;23453579;23457512;23487427;23555990;23563313;23604351;23697845;23732909;23746843;23774506;23816567;23818606;23898208;23996241;24085292;24248593;24270572;24295474;24324738;24330732;24361600;24367071;24368589;24457201;24464578;24469399;24611898;24912152;3140380;7479976;7565415;7628694;7679069;7700645;7739525;7739549;7739562;7878004;7891711;8139561;8246997;8601309;8615004;8622692;8631829;8657102;8709193;8797825;8887627;8887633;8887676;8889548;8940099;8978697;9057089;9060679;9135156;9214631;9244310;9252186;9261139;9334723;9346485;9362451;9372968;9409737;9452483;9566883;9572494;9689078;9721103;9734360;9738011;9751059;9792645;9859996;9865693;9865694;9873017;9875328;9882613;9891086;9892650;9914500;9990852;9990853 4792 G3V286;G3V2A2;G3V3I4;G3V3K1;P25963 ABBA01061503;AJ249290;AJ249294;AK311515;AK313421;AL133163;AMYH02029008;AY033600;AY496422;BC002601;BC004983;BT007091;BU737609;CH471078;CS542431;HI574170;M69043;NG_007571;NM_020529 AAA16489;AAH02601;AAH04983;AAK51149;AAP35754;AAR29599;BAG36213;CAB65113;CAB65556;CAM91165;CBX47574;EAW65875;NP_065390;P25963 Hs.81328 1662532;1694914;1743667;1792032;1792508;2107437;2132107;2190615 D14S1326;G44344;GDB:366518;NFKBIA;NFKBIA_2537.2;PMC135646P3;PMC152543P2;RH69167 IKBA;MAD-3;NFKBI I-kappa-B-alpha;IkappaBalpha;NF-kappa-B inhibitor alpha;OTTHUMP00000178842;OTTHUMP00000245015;OTTHUMP00000245885;ikB-alpha;major histocompatibility complex enhancer-binding protein MAD3;nuclear factor of kappa light chain gene enhancer in B-cells;nuclear factor of kappa light chain gene enhancer in b-cells inhibitor, alpha APPROVED protein-coding ENSG00000100906 HGNC:7797 01235 164008;612132 REVIEWED 7174897 NFU1P2 NFU1 iron-sulfur cluster scaffold pseudogene 2 1 1 1 p21.3 96796058 96796744 + 98542370 98543056 + 98076814 98077500 + 100132699 ABBA01045468;AC104453;AMYH02001539;NG_022795 APPROVED pseudo HGNC:44554 INFERRED 734431 NFE2L2 nuclear factor, erythroid 2-like 2 This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 2 2 2 q31 171697459 171732295 - 178095031 178129859 - 177230303 177265131 - 1580863;5134971;5134973;5134977;5134980;6480464;6893371;6893376;6893397;6893370;6893372;6893396;6893326;6893386;6893408;6907045 14673141;18200051;18417483;18556627;18559366;18787991;18957896;19138753;19176347;20064547;21439372;21514635;22367278 10419538;10510468;10747902;10930400;11013233;11035812;11256947;11274184;11439354;11683914;11909699;12020345;12084617;12084707;12145307;12198130;12360409;12370194;12435735;12441344;12446695;12477932;12490281;12506115;12556532;12805554;12947090;14517290;14517554;14529549;14565864;14585973;14612418;14985350;15020583;15282312;15358217;15367669;15379550;15475350;15489334;15525690;15572695;15601839;15734732;15870285;15901726;15917227;15917255;15923610;15944151;15964514;15983046;15985429;16000310;16006525;16038408;16092930;16123320;16137655;16177082;16220540;16308312;16314513;16325767;16339837;16344560;16478829;16507366;16545679;16551616;16551619;16716189;16790425;16790436;16857669;16888629;16923960;16950787;16951152;17015834;17020408;17065227;17077087;17109620;17143558;17145701;17234762;17259171;17384144;17462537;17562481;17603223;17606720;17609210;17636022;17673673;17726138;17822364;17822677;17875642;17875699;17925401;17982693;18029348;18036733;18038766;18049112;18074351;18097597;18156441;18162601;18172853;18202225;18238777;18240569;18241676;18261463;18316592;18353146;18358244;18372916;18387606;18404535;18413364;18417180;18424257;18434303;18444152;18467642;18537816;18554677;18566336;18566994;18572023;18585411;18613373;18613447;18622263;18692501;18756969;18757741;18802114;18813798;18829555;18838122;18846238;18981090;18981988;19138946;19158945;19182219;19254160;19272177;19273602;19321346;19345732;19417020;19424503;19478192;19484125;19489739;19538980;19558496;19560419;19573594;19575798;19576171;19608619;19614772;19618868;19643729;19668370;19669099;19671143;19706542;19715681;19720220;19720622;19723058;19751820;19808663;19821532;19822148;19844581;19844776;19889935;19901266;19920073;19934254;19948975;19967722;20011043;20026169;20027226;20053997;20061377;20062840;20064636;20068043;20089859;20103708;20118824;20142043;20175229;20175230;20175231;20175232;20185790;20196834;20211142;20216230;20229611;20232342;20309604;20347035;20368435;20378532;20395535;20418481;20421418;20421815;20427290;20428777;20440267;20446765;20446773;20446774;20452971;20452972;20463144;20484052;20486933;20507872;20511222;20516531;20534738;20534903;20595649;20599909;20608163;20623181;20644561;20647061;20655719;20664557;20673799;20681784;20682644;20707922;20718723;20805158;20805228;20806931;20887713;20932318;20956535;21051083;21062981;21107315;21127061;21144518;21172416;21196497;21205897;21211285;21211512;21212410;21216956;21228930;21248763;21249230;21251164;21262351;21270272;21277289;21278237;21320471;21357422;21367536;21382013;21383067;21402726;21412259;21422597;21443946;21482715;21487034;21489257;21524888;21596795;21622902;21638050;21651857;21670314;21676886;21693764;21725920;21734707;21747966;21756955;21799005;21812759;21816220;21842204;21861350;21868703;21875324;21883218;21897267;21906983;21926171;21943684;21949655;21964605;21969819;21988832;21990354;22001310;22005287;22005302;22010800;22016591;22033923;22042007;22048642;22051934;22078454;22089114;22095074;22120303;22125611;22130023;22142473;22188542;22201269;22207702;22213475;22215675;22227268;22245129;22272327;22275372;22279539;22302998;22310733;22314914;22331464;22364041;22370642;22378150;22387177;22445099;22448038;22459801;22460831;22492997;22493435;22513881;22528837;22547061;22558124;22575091;22593043;22594577;22609006;22614957;22645602;22648520;22668754;22672594;22684020;22691366;22693272;22703534;22716961;22749810;22751928;22767273;22791762;22793650;22798149;22804935;22806321;22836768;22851183;22872865;22874821;22901367;22901690;22940790;22942279;22943825;22951256;22964297;22964583;22964642;23023193;23043106;23045018;23046979;23052169;23056183;23056222;23056578;23061798;23066931;23076395;23077289;23089668;23108405;23117207;23165982;23176750;23188707;23244425;23247010;23255485;23259779;23266269;23275004;23276910;23281314;23284002;23305850;23314856;23347118;23353771;23365135;23382044;23390006;23403272;23404377;23434765;23448276;23454680;23455180;23485615;23496811;23499316;23526214;23535360;23536959;23543742;23545629;23557336;23558695;23559007;23563091;23567851;23572560;23580430;23583297;23612120;23614276;23622008;23637463;23645672;23648389;23650051;23658110;23661758;23667609;23673813;23676441;23686862;23689140;23691266;23697596;23699174;23708697;23718983;23722832;23725046;23727018;23734777;23737527;23738042;23738048;23739547;23766517;23766848;23788642;23793039;23809001;23822105;23836589;23857252;23857982;23880293;23887691;23906480;23921124;23930677;23933386;23936010;23937621;23938463;23945499;23947958;23954767;23986495;24011591;24015256;24025640;24030461;24035498;24040073;24053646;24055888;24059022;24117426;24127568;24130096;24140708;24189098;24204715;24211276;24211395;24232097;24260155;24298019;24308969;24311782;24322982;24323028;24366069;24366869;24374745;24380877;24386210;24416372;24462598;24466341;24491031;24512214;24599821;24613345;24662764;24667411;24704364;24709675;24733848;24759106;24866057;25129997;7868116;7937919;9150357;9872330;9887101 4780 C9J0Y1;C9J1A8;C9J3K4;C9JBM0;C9JFL6;H7C498;K7EIW5;K7ER33;Q16236 AB208786;ABBA01062230;ABBA01062231;AC079305;AF323119;AK297838;AK304555;AK310656;AK310841;AK311395;AK311688;AK314816;AK316148;AMYH02005313;AW471118;BC011558;BX649047;BX649071;CH471058;CV575212;DA436387;DC314553;HM446346;NM_001145412;NM_001145413;NM_006164;S74017 AAB32188;AAH11558;AAK01657;AAY14710;ABZ92168;ACE86746;ACE87432;ACE87835;ACT64362;ADK56055;BAD92023;BAG37339;BAG60172;BAG65350;BAH14519;EAX11061;EAX11062;NP_001138884;NP_001138885;NP_006155;Q16236 Hs.744006 1646281;1664680;1673366;1690382;1734956;1739179;1764887;1768718;1778050;2118501;2169910 A003A39;D2S1709E;D2S1921;D2S2070;D2S2577;D2S2715;DYS419;RH68866;RH70788;RH76772;SHGC-148447 HEBP1;NRF2 NF-E2-related factor 2;NFE2-related factor 2;OTTHUMP00000164988;OTTHUMP00000164989;OTTHUMP00000205250;OTTHUMP00000205251;OTTHUMP00000207980;nuclear factor (erythroid-derived 2)-like 2;nuclear factor erythroid 2-related factor 2;nuclear factor erythroid-derived 2-like 2;nuclear factor, erythroid derived 2, like 2 APPROVED protein-coding ENSG00000116044 HGNC:7782 02732 600492 VALIDATED 1347533 NFXL1 nuclear transcription factor, X-box binding-like 1 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); zinc ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; cyclosporin A; formaldehyde 4 4 4 p12 48298135 48365585 - 47849250 47916684 - 47847233 47914667 - 6480464;8554872 12477932;14702039;15489334;15815621;16323267;16344560;17081983;19946888;20877624;21903422;21987572;22118674;22505724;22939629;24457600;24816145;8889548 152518 B1Q2B0;Q6ZNB6;Q8J028 AB085695;AB181916;ABBA01014337;ABBA01014338;AC107068;AK131285;AK302440;AMYH02009161;AMYH02009162;AY134856;BC018019;BC040151;BC051193;BM724120;BU568855;CH471069;DA801937;DB087408;NM_001278623;NM_001278624;NM_152995;NR_103795 AAH18019;AAH51193;AAN08626;AAY40918;BAD18459;BAG16182;BAG16261;BAH13710;EAW93041;EAW93042;EAW93043;EAW93044;EAW93045;EAW93046;NP_001265552;NP_001265553;NP_694540;Q6ZNB6 Hs.646325 2165332 SHGC-53848 CDZFP;FLJ16294;HOZFP;OZFP;URCC5 NF-X1-type zinc finger protein NFXL1;OTTHUMP00000158785;OTTHUMP00000218679;OTTHUMP00000218680;cytoplasm-distribution zinc finger protein;ovarian zinc finger protein;up-regulated in colon cancer 5 protein-coding ENSG00000170448 HGNC:18726 11025 VALIDATED 1321083 NFX1 nuclear transcription factor, X-box binding 1 MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 33220555 33301274 + 33290418 33371155 + 33290420 33371157 + 1580863;6480464 10500182;11073998;12226669;12477932;14702039;15358174;15371341;16344560;16687406;16751776;17267499;17567985;18505829;19369336;19690564;20211142;20739528;21139048;21906983;24109236;24163370;24250222;24457600;24816145;2511169;7964459;8125298 4799 A0JLR2;Q12986 ABBA01065061;ABBA01065062;ABBA01065063;ABBA01065064;AF332009;AI679589;AK055847;AK225750;AK291643;AL356218;AL356472;AL832342;AMYH02019417;AMYH02019418;AMYH02019419;AMYH02019420;AW674001;BC006447;BC012151;BP871782;BX647337;CH471071;DA093124;NG_029578;NM_002504;NM_147133;NM_147134;U15306;U19759;XM_005251473;XM_005251474;XM_005251475;XM_006716776 AAA69517;AAB94787;AAH06447;AAH12151;AAK16545;ABM84602;ABM86769;BAF84332;EAW58507;EAW58508;EAW58509;EAW58510;EAW58511;NP_002495;NP_667344;NP_667345;Q12986;XP_005251530;XP_005251531;XP_005251532;XP_006716839 Hs.413074 1669745;1680920;1723845;1735910;2153427;2163886;2172996 D9S1052E;D9S1081;RH118658;RH35865;RH75007;STS-AA037854;WI-22028 DKFZp779G2416;MGC20369;NFX2;TEG-42;Tex42 OTTHUMP00000021213;OTTHUMP00000021214;OTTHUMP00000021215;nuclear transcription factor, X box-binding protein 1;transcriptional repressor NF-X1 APPROVED protein-coding ENSG00000086102 HGNC:7803 11936 603255 REVIEWED 1321531 NFRKB nuclear factor related to kappaB binding protein ENCODES a protein that exhibits protease binding; INVOLVED IN DNA recombination (inferred); DNA repair (inferred); inflammatory response (inferred); PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN Ino80 complex; nucleus; INTERACTS WITH 4-hydroxynon-2-enal; hydrogen peroxide; lead(0) 11 11 11 q24-q25 126901823 126933652 - 129733670 129765490 - 129863775 129895595 - 6480464;9495926 21502417 12477932;1427843;15302935;15489334;16344560;16565220;17081983;17643375;17721549;1777480;18029348;18922472;19471022;19573080;19615732;19773279;20237496;20379614;20467438;2050119;20568250;20811636;21139048;21145461;21303910;21693764;21890473;21988832;22291976;22863883;22939624;22939629;22984442;25027693;8889548 4798 E9PJE1;E9PJG2;E9PJU3;E9PM88;E9PQ59;E9PQB0;Q6P4R8 ABBA01023022;AL512730;AMYH02025779;AMYH02025780;AP003327;BC063280;BM975529;CH471065;DA324031;NM_001143835;NM_006165;X80878;XM_005271565;XM_005271566;XM_005271567;XM_005271568;XM_005271569 AAH63280;CAA56846;CAC21663;EAW67752;EAW67753;EAW67754;EAW67755;EAW67756;EAW67757;EAW67758;NP_001137307;NP_006156;Q6P4R8;XP_005271622;XP_005271623;XP_005271624;XP_005271625;XP_005271626 Hs.530539 1682820;1698248;1731233;1742491;2137505;2151191 A004Y37;D11S445;D11S4699;GDB:197564;RH102660;RH79933 DKFZp547B2013;INO80G DNA-binding protein R kappa B;DNA-binding protein R kappa-B;INO80 complex subunit G;OTTHUMP00000230901;OTTHUMP00000230902;OTTHUMP00000230903;OTTHUMP00000230904;nuclear factor related to kappa b binding protein;nuclear factor related to kappa-B-binding protein protein-coding ENSG00000170322 HGNC:7802 01240 164013 VALIDATED 2293177 NFYAP1 nuclear transcription factor Y, alpha pseudogene 1 13 13 13 q21.31 45450336 45450979 - 64549913 64550556 - 63975780 63976423 - 100130677 ABBA01050257;AL355879;AMYH02028171;NG_007867 NFYAP APPROVED pseudo HGNC:34078 INFERRED 1350532 NFS1 NFS1 cysteine desulfurase Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010] 20 20 20 q11.22 31004905 31035569 - 34256610 34287287 - 35668688 35699365 - 1580863;6480464;6907045;8554872 11060020;11124703;11256614;11780052;12477932;14702039;15489334;16344560;16527810;16847322;17207965;17474147;17567994;18650437;19720832;20877624;21081666;21906983;21963094;22689995;23593335;23940031;24217246;8125298;9885568 9054 A2A2M1;B4DNL7;F2Z2E7;F8WB23;F8WER8;H0YGN5;H7C0I5;H7C3D4;Q53FP3;Q5QP19;Q8WV90;Q9Y697 ABBA01019151;ABBA01019152;AF097025;AJ010952;AK001265;AK001470;AK056242;AK091049;AK223239;AK295215;AK297969;AK301969;AK302023;AK312293;AL109827;AL357374;AMYH02037006;BC018471;BC065560;CH471077;DA082829;NG_033237;NM_001198989;NM_021100;NR_037570;R16676 AAD09187;AAH18471;AAH65560;ADQ32594;ADZ15829;BAD96959;BAG35220;BAG50917;BAG51655;BAG58209;BAG60279;BAG63382;BAG63421;CAA09424;CAB87612;EAW76170;EAW76171;EAW76172;NP_001185918;NP_066923;Q9Y697 Hs.194692 1728949;1777710;1799896;1804924;1808930;1812852;1812914;1812916;1818210;1818412;1818992;1819162;1820106;1821176;1822504;1831914;1832148;1839640;1842768;1842770;1843788;1845552;1975558;1975560;1975562;1975564;1975566;1975568;1975570;1975572;1975574;1975576;1975578;1975580;1975582;1975584;1975586;1975588;1975590;1975592;1975594;1975596;1975598;1975600;1975602;1975604;1975606;1975608;1975610;1975612;1975614;1975616;1975618;1975620;1975622;1975624;1975626;1975628;1975630;1975632;1975634;1975636;1975638;1975640;1975642;1975644;1975646;1975648;1975650;1975652;1975654;1975656;1975658;1975660;1975662;1975664;1975666;1975668;1975670;1975672;1975674;1975676;1975678;1975680;1975682;1975684;1975686;1975688;1975690;1975692;1975694;1975696;1975698;1975700;1975702;1975704;1975706;1975708;1975710;1975712;1975714;1975716;1975718;1975720;1975722;1975724;1975726;1975728;1975730;1975732;1975734;1975736;1975738;1975740;1975742;1975744;1975746;1975748;1975750;1975752;1975754;1975756;1975758;1975760;1975762;1975764;1975766;1975768;2108841;2121620;2186689;2215576;2215578;2215580;2215582;2215584;2215586;2215588;2215590;2215592;2215594;2215596;2215598;2215600;2215602;2215604;2215606;2215608;2215610;2215612;2215614;2215616;2215618;2215620;5014051;5020414;5022200;5022651;5037552 D10Bir17;D11S2921;D8S2278;D8S2279;ECD00802;ECD03398;ECD05448;ECD07439;ECD07471;ECD07472;ECD10162;ECD10264;ECD10561;ECD10648;ECD11126;ECD11665;ECD12340;ECD17095;ECD17212;ECD21003;ECD22591;ECD22592;ECD23105;ECD23994;L17688;L18426;NFS1__6240.2;REN58665;REN58666;REN58667;REN58668;REN58669;REN58670;REN58671;REN58672;REN58673;REN58674;REN58675;REN58676;REN58677;REN58678;REN58679;REN58680;REN58681;REN58682;REN58683;REN58684;REN58685;REN58686;REN58687;REN58688;REN58689;REN58690;REN58691;REN58692;REN58693;REN58694;REN58695;REN58696;REN58697;REN58698;REN58699;REN58700;REN58701;REN58702;REN58703;REN58704;REN58705;REN58706;REN58707;REN58708;REN58709;REN58710;REN58711;REN58712;REN58713;REN58714;REN58715;REN58716;REN58717;REN58718;REN58719;REN58720;REN58721;REN58722;REN58723;REN58724;REN58725;REN58726;REN58727;REN58730;REN58731;REN58732;REN58733;REN58734;REN58735;REN58736;REN58737;REN58738;REN58739;REN58740;REN58741;REN58742;REN58743;REN58744;REN58745;REN58746;REN58747;REN58748;REN58749;REN58750;REN58751;REN58752;REN58753;REN58754;REN58755;REN58756;REN58757;REN58758;REN58759;REN58760;REN58761;REN58762;REN58763;REN58764;REN58765;REN58766;REN58767;REN58768;REN58769;REN58770;REN58771;REN58772;RH41786;SHGC-32196;STS-D45601;stSG636783;stSG636784;stSG636785;stSG636786;stSG636787;stSG636788;stSG636789;stSG636790;stSG636791;stSG636792;stSG636793;stSG636794;stSG636795;stSG636796;stSG636797;stSG636798;stSG636799;stSG636800;stSG636801;stSG636802;stSG636803;stSG636804;stSG636805 HUSSY-08;IscS;NIFS NFS1 nitrogen fixation 1 homolog;OTTHUMP00000030799;OTTHUMP00000030800;OTTHUMP00000179026;cysteine desulfurase, mitochondrial;nitrogen fixation 1 (S. cerevisiae, homolog);nitrogen-fixing bacteria S-like protein APPROVED protein-coding ENSG00000244005 HGNC:15910 04597 603485 REVIEWED 733450 NFYA nuclear transcription factor Y, alpha The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 42593388 42622828 + 41040707 41070146 + 41072968 41102407 + 1580863;6480464;6907045;8663431;8663430 22713868;23263379 10393239;10441475;10446910;10571030;10571058;11158310;11689552;11777930;11903046;12392713;12427542;12477932;12482752;12511565;12659632;12730328;12741956;12791656;12857729;12909359;14574404;14586402;14688259;14702039;15044452;15150264;15243141;15489334;1549471;15647279;15707954;1577736;15831478;15847654;15964792;16081537;16189514;16343534;16959611;17098936;17289878;1774067;17910945;18281530;18372207;18446193;18496767;18541673;18654640;19060904;19302979;19351437;19828605;2000400;20023394;20211142;20630860;20936779;20952509;20965718;21139048;21150337;21565167;21832049;21988832;22285817;22383952;22530004;2266139;22939629;22944692;23071749;23332751;23595228;24086615;24250222;24407240;24816145;3476205;8051128;8889548;9388234;9612081;9660784;9668064 4800 P23511 AA905268;ABBA01050760;AJ420494;AK002098;AK025201;AL031778;AMYH02013601;BC026923;BC039244;BM561405;BQ184804;CH471081;GQ167198;M59079;NM_002505;NM_021705;X59711 AAA35950;AAH39244;ABZ92427;ADD81252;CAA42231;EAX04013;EAX04014;EAX04015;EAX04016;EAX04017;EAX04018;EAX04019;EAX04020;EAX04021;NP_002496;NP_068351;P23511 Hs.10441 1694150;1849212;2121875;2171713;2183117 AL035179;D6S1115E;D6S1425;RH17701;RH46298 CBF-A;CBF-B;FLJ11236;HAP2;NF-YA CAAT box DNA-binding protein subunit A;CAAT-box DNA binding protein subunit A;CCAAT-binding transcription factor subunit B;HAP2 CCAAT-binding protein;OTTHUMP00000016365;OTTHUMP00000016366;Transcription factor NF-Y, A subunit;nuclear transcription factor Y subunit A;nuclear transcription factor Y subunit alpha;nuclear transcription factor-y alpha APPROVED protein-coding HGNC:7804 01793 189903 REVIEWED 1352074 NFYB nuclear transcription factor Y, beta The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008] 12 12 12 q22-q23 104174600 104195782 - 104510858 104532040 - 104117080 104138262 - 1580863;6480464;6907045;8663431;8663430 22713868;23263379 10075648;10571030;11003667;11022037;11282029;11306579;11689552;12167641;12401788;12477932;12482752;12766061;12805369;12857729;14586402;15044452;15243141;15454570;15462673;15489334;1549471;1577736;15831478;15847654;15964792;16189514;16344560;16959611;17098936;1774067;18275041;18480411;19223331;20072153;20936779;20965718;21252292;21445285;21890473;21988832;22132193;23332751;23503679;23595228;7651426;8027044;8051128;9032250;9153318;9388234;9430679;9442396;9612081;9660784;9668064;9799238 4801 F8VSL3;P25208 AA479300;ABBA01053208;AC089983;AK291934;AK311706;AL042186;AMYH02027091;AU151875;AW576189;BC005316;BC005317;BC007035;BF032637;BG776259;BQ420877;CD678671;CH471054;L06145;NM_006166;X59710;XM_005268908;XM_005268909;XM_005268910 AAA59930;AAH05316;AAH05317;AAH07035;ABM84230;ABM87476;BAF84623;CAA42230;EAW97738;EAW97739;EAW97740;EAW97741;EAW97742;NP_006157;P25208;XP_005268965;XP_005268966;XP_005268967 Hs.84928 2175843;2187571;2217668;5016462;5124343 GDB:384827;NFYB_4023;RH65771;RH71289;SGC38400 CBF-A;CBF-B;HAP3;NF-YB CAAT box DNA-binding protein subunit B;CCAAT-binding transcription factor subunit A;OTTHUMP00000243125;OTTHUMP00000243126;Transcription factor NF-Y, B subunit;nuclear transcription factor Y subunit B;nuclear transcription factor Y subunit beta APPROVED protein-coding ENSG00000120837 HGNC:7805 01794 189904 REVIEWED 7491154 NFYC-AS1 NFYC antisense RNA 1 1 1 1 p34.2 39437132 39440312 - 41154752 41157933 - 40689080 40692261 - 14702039;16344560 100130557 ABBA01023165;AK094323;AL031289;AMYH02000861;DA926154;DB338475;NR_024567 BAC04330 Hs.233458 0808y08y ncrna HGNC:49451 VALIDATED 1319181 NGEF neuronal guanine nucleotide exchange factor ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN ephrin receptor signaling pathway (ortholog); negative regulation of dendritic spine morphogenesis (ortholog); regulation of GTPase activity (ortholog); PARTICIPATES IN ephrin - ephrin receptor bidirectional signaling axis; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell projection (inferred); cytosol (inferred); membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; aflatoxin B1; benzo[a]pyrene 2 2 2 q37 227507672 227643202 - 233743396 233877951 - 232878686 233013241 - 1580863;6480464;6484113;8554872 10777665;11336673;11756498;12376548;12477932;12787561;15489334;15815621;16169070;16344560;17702745;18029348;18976975;19505873;19911011;20379614;21789175;21900206;23974872;24152035 25791 B4DDI2;C9J2D9;C9JTV7;H7BZ39;H7C2C2;H7C2S7;Q8N5V2 ABBA01001999;ABBA01002000;ABBA01002001;ABBA01002002;ABBA01002003;ABBA01002004;ABBA01002005;ABBA01002006;AC016692;AC106876;AJ238899;AK293203;AK297390;AK298315;AK300953;AMYH02005994;AMYH02005995;AMYH02005996;AMYH02005997;AMYH02005998;BC031573;BC073962;BX431262;CH471063;DB242442;DC388448;HQ292143;NM_001114090;NM_019850 AAH31573;AAH73962;AAX93288;AAY24359;ABM81769;ABM84924;BAG56743;BAG59830;BAG60569;BAG62581;CAC00686;EAW71024;EAW71025;EAW71026;NP_001107562;NP_062824;Q8N5V2 Hs.97316 1338169;1342010;1651191;1680449;1690125;1754285;1757189;1763773;2109557;2123137;2123139;5491483;7185067 A001U38;D2S2176;D2S331;G19669;MARC_15277-15278:1013611742:1;NGEF_9409;RH92790;RH94178;SHGC-132300;SHGC-144608;SHGC-147449;WI-3200 ARHGEF27 OTTHUMP00000164372;OTTHUMP00000203451;eph-interacting exchange protein;ephexin;ephexin-1 protein-coding ENSG00000066248 HGNC:7807 10442 605991 VALIDATED 1320980 NGDN neuroguidin, EIF4E binding protein Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008] 14 14 14 q11.2 3801578 3810079 + 23938898 23947402 + 23469689 23478193 + 6480464 12477932;14702039;15489334;16565220;16705177;17207965;18547334;19471022;21139048;21906983;22727665;24457600;24816145 25983 G3V4G1;G3V601;H0YJ17;H0YJQ1;Q8NEJ9 ABBA01061320;AK022215;AK124318;AK291875;AL050003;AL132855;AMYH02028869;BC030817;CH471078;NM_001042635;NM_015514 AAH30817;ACE87005;ACE87693;ADQ32098;BAF84564;CAB43232;EAW66147;EAW66149;NP_001036100;NP_056329;Q8NEJ9 Hs.9043 1695222;5121658 D14S1349;SHGC-62927 C14orf120;CANu1;DKFZp564O092;LCP5;NGD;lpd-2 EIF4E-binding protein;OTTHUMP00000246242;OTTHUMP00000246390;OTTHUMP00000246398;centromere accumulated nuclear protein 1;eukaryotic initiation factor 4E and CPEB binding protein;neuroguidin APPROVED protein-coding ENSG00000129460 HGNC:20271 610777 VALIDATED 735398 NGFRAP1 nerve growth factor receptor (TNFRSF16) associated protein 1 ENCODES a protein that exhibits cysteine-type endopeptidase activator activity involved in apoptotic process (inferred); death receptor binding (inferred); metal ion binding (inferred); INVOLVED IN activation of cysteine-type endopeptidase activity involved in apoptotic process (inferred); apoptotic signaling pathway (inferred); extrinsic apoptotic signaling pathway via death domain receptors (inferred); PARTICIPATES IN neurotrophic factor signaling pathway; FOUND IN cytoplasm; INTERACTS WITH 17beta-estradiol; 2-methylcholine; cobalt dichloride X X X q22.2 103070266 103071999 + 102631268 102633001 + 103376323 103378164 + 6480464;6907045 10514511;10544233;10764727;11238738;11278287;11830582;12477932;12739005;12787561;15178455;15489334;15772651;15958283;16189514;16221301;16777077;17207965;17355907;18029348;21139048;2171551;21988832;7757816 27018 Q00994;Q14991 ABBA01021043;ABBA01021044;AF187064;AI929106;AK057859;AK315371;AL606763;AMYH02040169;AY833562;BC003190;BC051713;BE395284;BQ068114;CD048295;CH471190;HI179004;HI179006;HI179008;M38188;NM_001282674;NM_014380;NM_206915;NM_206917 AAA63232;AAA63233;AAF75129;AAH03190;AAX40680;ADQ32371;BAG37764;CBX53811;CBX53812;CBX53813;EAW54710;EAW54711;EAW54712;NP_001269603;NP_055195;NP_996798;NP_996800;Q00994 Hs.448588 1647674;2128371;2171526 D5S2593;DXS6984E;STS-M38188 BEX3;Bex;DXS6984E;HGR74;NADE OTTHUMP00000023741;OTTHUMP00000023742;OTTHUMP00000023743;OTTHUMP00000023744;brain expressed, X-linked 3;brain-expressed X-linked protein 3;nerve growth factor receptor-associated protein 1;ovarian granulosa cell 13.0 kDa protein HGR74;ovarian granulosa cell protein (13kD);p75NTR-associated cell death executor protein-coding ENSG00000166681 HGNC:13388 02291 300361 VALIDATED 731843 NFYC nuclear transcription factor Y, gamma This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 1 1 1 p32 39439621 39519476 + 41157242 41237275 + 40691570 40771603 + 1580863;6480464;6907045;7421504;8663431;8663430 21784126;22713868;23263379 10446203;10571030;11158310;11282029;11689552;12023901;12167641;12401788;12477932;12482752;12857729;14586402;14702039;15243141;15454570;15489334;15922473;15964792;16710414;19047128;19322201;19351825;19559782;19690168;20054001;20200978;20936779;20965718;21139048;21507922;21890473;21900206;21906983;21963094;21988832;22104449;22242598;22412893;22505724;23000965;23332751;23657974;7969168;8910521;8921405;9153318;9249075;9332362;9388234 4802 E9PI99;E9PJA8;E9PL11;E9PQR2;H0Y803;Q13952;Q5T6K5;Q5T6K7 AB208975;ABBA01023162;ABBA01023163;ABBA01023164;ABBA01023165;AC119677;AF191744;AK000346;AK127677;AK300774;AK301215;AK301385;AL031289;AL354914;AL713771;AMYH02000861;AMYH02000862;BC005003;BT020081;CH471059;D85425;D89986;DC297902;DC391720;DC428152;KF495918;KF495929;NM_001142587;NM_001142588;NM_001142589;NM_001142590;NM_014223;U62296;U78774;XM_005270891;XM_005270893;XM_005270894;XM_005270895;XM_005270896;XM_006710656;XM_006710657;XM_006710658;XM_006710659;XM_006710660;XM_006710661;XM_006710662;Z70024;Z74792 AAC50816;AAC51669;AAG28389;AAH05003;AAV38884;BAA12818;BAA14051;BAA91100;BAD92212;BAG54549;BAG62438;BAG62790;BAG62925;CAA93846;CAA99055;CAD28533;EAX07198;EAX07199;EAX07200;EAX07201;EAX07202;EAX07203;NP_001136059;NP_001136060;NP_001136061;NP_001136062;NP_055038;Q13952;XP_005270948;XP_005270950;XP_005270951;XP_005270952;XP_005270953;XP_006710719;XP_006710720;XP_006710721;XP_006710722;XP_006710723;XP_006710724;XP_006710725 Hs.713051 1772944;1849685;2118793;2129303;2137151;2144045;2173080;5020274;5094856 L18441;NFYC;SHGC-34312;SHGC-56833;SHGC-74645;SHGC-74646;SHGC-74650;SHGC-74664;SHGC-74706 CBF-C;CBFC;DKFZp667G242;FLJ45775;H1TF2A;HAP5;HSM;NF-YC CAAT box DNA-binding protein subunit C;CCAAT binding factor subunit C;CCAAT transcription binding factor subunit gamma;OTTHUMP00000009207;OTTHUMP00000009208;OTTHUMP00000009209;OTTHUMP00000009210;OTTHUMP00000009211;OTTHUMP00000009212;OTTHUMP00000009213;OTTHUMP00000009215;OTTHUMP00000009216;OTTHUMP00000009217;OTTHUMP00000231028;histone H1 transcription factor large subunit 2A;nuclear transcription factor Y subunit C;nuclear transcription factor Y subunit gamma;transactivator HSM-1;transactivator HSM-1/2;transcription factor NF-Y, C subunit APPROVED protein-coding ENSG00000066136 HGNC:7806 605344 REVIEWED 1352460 NGB neuroglobin This gene encodes an oxygen-binding protein that is distantly related to members of the globin gene family. It is highly conserved among other vertebrates. It is expressed in the central and peripheral nervous system where it may be involved in increasing oxygen availability and providing protection under hypoxic/ischemic conditions. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 57770473 57776215 - 77731834 77737655 - 77265491 77271312 - 1580863;6480464;8554872 11029004;11473128;11820779;12239161;12351835;12477932;12508121;12850561;12860983;12958655;12962627;14530264;14645216;15036292;15120622;15122877;15193759;15299006;15488767;15489334;15598495;15723537;15808606;15819897;15939299;16201751;17210637;17337004;17600531;17975837;18302932;18416560;18767815;19001220;19010568;19087291;19307722;19327369;19383366;19860834;20075359;20091232;20227336;20345238;20571522;20643048;21190290;21296891;21304818;21362510;21601304;21620833;21674044;21704585;21725774;21965683;22009023;22787149;23135388;23160832;23319379;23643985;23648513;23835959;24362753 58157 A0M8W9;Q9NPG2 ABBA01030656;AC007375;AC007954;AF422796;AF422797;AJ245944;AJ245946;AK098350;AK315395;AMYH02029567;AMYH02029568;BC032509;CH471061;DQ008010;NM_021257 AAF62557;AAF63183;AAH32509;AAL98923;AAL98924;AAY16983;ABM81787;ABM84942;BAG37788;CAC11133;CAC12994;EAW81274;EAW81275;NP_067080;Q9NPG2 Hs.274363 1736430;2117743;5018025 D14S1234;D14S693E;NGB OTTHUMP00000246479 APPROVED protein-coding ENSG00000165553 HGNC:14077 05602 605304 REVIEWED 1318334 NGLY1 N-glycanase 1 This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009] 3 3 3 p24.2 25697316 25768403 - 25760435 25831530 - 25718944 25790039 - 6480464;6907045;8699517;7240710;8554872 10831608;11562482;12477932;14702039;14749736;15358861;15362974;15489334;15610852;16055502;16807242;17015730;18187620;20668520;21139048;21832049;21890473;21906983;21963094;22190034;22268729;22505724;22575648;23000965;23602568;24250222;25015289 55768 C9JU75;H0Y2P2;Q96IV0;Q9NV10 AB209549;ABBA01025015;ABBA01025016;ABBA01025017;AC092798;AF250924;AK001867;AK022471;AK296047;AK310473;AL832748;AMYH02006426;BC000963;BC007226;BC017220;BQ017148;CH471055;DC329733;NG_034108;NM_001145293;NM_001145294;NM_001145295;NM_018297;XM_005265316;XM_005265317 AAF74720;AAH00963;AAH07226;AAH17220;ABM84435;ABM87500;BAA91950;BAD92786;BAG58811;EAW64363;EAW64364;EAW64365;EAW64366;NP_001138765;NP_001138766;NP_001138767;NP_060767;Q96IV0;XP_005265373;XP_005265374 Hs.368960 1679620;1735158;2139765;2162198;5014019;5015861;5024039;5109663;5124071;7185938 D10S16;D16S325;D3S2812E;D5S2354;D7S2067E;RH16673;RH79688;RH93712;SHGC-76781 CDG1V;FLJ11005;FLJ12409;PNG1 OTTHUMP00000208320;OTTHUMP00000208321;OTTHUMP00000208322;OTTHUMP00000208323;PNGase;hPNGase;peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase;peptide:N-glycanase APPROVED protein-coding ENSG00000151092 HGNC:17646 10118 610661;615273 REVIEWED 1343565 NHCP1 non-histone chromosome protein 1 4805 HGNC:7811 118870 1605389 NGRN neugrin, neurite outgrowth associated ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN extracellular region (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenous acid; cyclosporin A 15 15 15 q26.1 67213245 67219790 + 90808895 90815443 + 90265663 90272211 + 6480464 11118320;12477932;19616115;20186120 51335 Q9NPE2 AB029315;ABBA01053049;AC091167;AF225423;AF242770;AI865397;AK312641;AL355700;AL360142;AL834503;AMYH02031037;AMYH02031038;AY049780;BC001682;BC007222;BC009389;BC017192;BC019023;BC096824;BG716404;CD242640;CH471101;NM_001033088;NR_028052 AAF65447;AAG09725;AAH01682;AAH07222;AAH09389;AAH17192;AAH96824;AAL15437;BAB21533;BAG35525;CAB96088;CAD39160;EAX02096;EAX02097;EAX02098;EAX02099;NP_001028260;Q9NPE2 Hs.135471;Hs.715556 1644832;2160047;2164438 A002P37;RH65266;SHGC-34665 DSC92 OTTHUMP00000194683;mesenchymal stem cell protein DSC92;neugrin;neurite outgrowth associated protein;neurite outgrowth-associated protein;spinal cord-derived protein FI58G protein-coding HGNC:18077 14825 VALIDATED 1321059 NHLH1 nescient helix loop helix 1 The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM, Nov 2002] 1 1 1 q22 133405619 133411396 + 160336861 160342638 + 160367071 160372848 + 1580863;6480464 10603358;12477932;12878195;1328219;1528853;15489334;16344560;1729708;19322201;21988832 4807 Q02575;Q5T203 ABBA01016612;AK313700;AL445230;AMYH02002024;BC013789;BT006859;CH471121;DA612092;M96739;M97507;NM_005598 AAA58634;AAH13789;AAP35505;ACT64491;ACT64492;BAG36446;EAW52719;NP_005589;Q02575 Hs.30956 1686178 RH93953 HEN-1;HEN1;NSCL;NSCL-1;NSCL1;bHLHa35 OTTHUMP00000031860;class A basic helix-loop-helix protein 35;helix-loop-helix protein 1 APPROVED protein-coding ENSG00000171786 HGNC:7817 01212 162360 VALIDATED 1602683 NHEJ1 nonhomologous end-joining factor 1 Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008] 2 2 2 q35 213709738 213795304 - 219940046 220025587 - 219075324 219160865 - 6480464;6907045;7240710;8662352;8554872 20192759 12477932;12604777;14702039;15489334;15815621;16344560;16439204;16439205;16571728;16828027;17191205;17317666;17470781;17504121;17567543;17720816;18046455;18158905;18270339;18335491;18391952;18644470;18775323;19103754;19223975;19266077;19420065;19584075;19806195;20189936;20522537;20558749;20597108;20844317;21349273;21665306;21768349;21775435;21906983;21936820;21963094;22102241;22287571;22312109;22939629;23207905;23442139;23620595;23818183 79840 C9JWV4;F8WEB8;G5E9Q8;H7C0G7;Q9H9Q4 ABBA01023851;ABBA01023852;AC020575;AC068946;AC097468;AJ972687;AK022672;AMYH02005813;AMYH02005814;AMYH02005815;BC008210;BC012732;BC030986;CH471063;CR457291;DB124934;NG_007880;NM_024782 AAH08210;AAH12732;AAH30986;AAX88921;BAB14168;CAG33572;CAI99410;EAW70678;NP_079058;Q9H9Q4 Hs.225988 1649797;1798186;2136184 D2S2788;RH48754;SLC23A3_1795 FLJ12610;XLF Cernunnos;OTTHUMP00000164168;OTTHUMP00000206275;OTTHUMP00000206278;OTTHUMP00000206279;XRCC4-like factor;non-homologous end-joining factor 1 APPROVED protein-coding ENSG00000187736 HGNC:25737 07784 611290;611291 REVIEWED 1350688 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010] 6 6 6 p22.3 19358725 19360858 - 18120718 18122851 - 18120487 18122620 - 1299634;6480464;6907045;7240710;8699517;8554872 12958597 12477932;14574404;15489334;15781812;15930137;16115820;16950819;17337485;17908927;18029386;18070875;18263761;18311786;18617530;19036738;19171932;19267391;19322595;19529779;19892702;20301563;20534808;20738377;21505799;21555062;21652633;21742036;21798009;22047982;22223637;22578008;22815132;22939624;22961547;23131811;23922729 378884 Q6VVB1 ABBA01022233;AL589723;AMYH02013218;AY324850;BC103888;BC103889;BC103890;BK001510;CH471087;NG_016750;NM_198586 AAI03889;AAI03890;AAI03891;AAQ19671;DAA01954;EAW55392;NP_940988;Q6VVB1 Hs.348351 2107439;5492813 NHLRC1__7158;UniSTS:482740 EPM2A;EPM2B;MGC119262;MGC119264;MGC119265;bA204B7.2 E3 ubiquitin-protein ligase NHLRC1;MALIN;NHL repeat containing 1;NHL repeat-containing protein 1;OTTHUMP00000016074 APPROVED protein-coding HGNC:21576 06995 254780;608072 REVIEWED 1316494 NHLRC2 NHL repeat containing 2 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 10 10 10 q25.3 109341748 109399621 + 115614391 115672265 + 113854632 113912506 + 737633;1580863;6480464;8554872 12477932 14702039;16344560;16385451;21139048;21906983;21963094;22863883 374354 Q7Z658;Q8NBF2 ABBA01062988;AK000154;AK090631;AK098487;AK126751;AL162407;AL592546;AL627429;AL832090;AMYH02023844;AMYH02023845;BC013743;BC032598;BX538287;BX647641;BX647663;CH471066;DA821295;NM_198514 AAH32598;ADZ15924;BAA90979;BAC03493;BAC05316;CAD98082;EAW49486;EAW49487;EAW49488;NP_940916;Q8NBF2 Hs.369924;Hs.594372 1771733;1771735;1852633;5015861;5016478;5022200;5022450;7185938 A006A44;D10S16;D10S275;G20663;GDB:434012;L18426;SHGC-57721 DKFZp779F115;FLJ20147;FLJ25621;FLJ33312;MGC45492 1200003G01Rik;NHL repeat-containing protein 2;OTTHUMP00000020518;novel NHL repeat domain containing protein protein-coding HGNC:24731 14827 VALIDATED 1602637 NHLRC4 NHL repeat containing 4 16 16 16 p13.3 817438 819901 + 617032 619495 + 567032 569495 + 12477932;14702039;15489334;15616553 283948 P0CG21 ABBA01030362;AK093527;AMYH02031196;BC032015;BC048340;BC113527;BC113529;CH471112;DA014246;DA560515;NG_034206;NM_001301159;NM_176677;Z97986;Z98883 AAI13528;AAI13530;BAC04193;EAW85801;NP_001288088;NP_788850;P0CG21 Hs.664267;Hs.744949 5493405 UniSTS:486097 FLJ36208 NHL-repeat-containing protein 4;OTTHUMP00000237689;OTTHUMP00000237690 APPROVED protein-coding ENSG00000257108 HGNC:26700 11681 VALIDATED 1605503 NHLRC3 NHL repeat containing 3 This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012] 13 13 13 q13.3 20666463 20678255 + 39612448 39624246 + 39038311 39050109 + 6480464;8554872 12477932;16344560;21890473 387921 C9J973;Q5JS37;Q68DP7 ABBA01021315;AK299198;AK300260;AL445590;AL833329;AMYH02027896;BC052492;BC140877;BC140878;BX647872;BX648122;CH471075;CR749318;DA772703;NM_001012754;NM_001017370;NR_073109 AAI40878;AAI40879;BAG61240;BAG62022;CAH10395;CAH18173;EAX08612;EAX08613;EAX08614;EAX08615;NP_001012772;NP_001017370;Q5JS37 Hs.507783 1654131;1676628;2124475;2145323;5021872;5037552 D8S2279;RH94263;STS-N25548;STS-R01127;STS-W94901;sY3084 DKFZp313M1221;DKFZp686E1140 NHL repeat-containing protein 3;OTTHUMP00000018294;OTTHUMP00000214953 APPROVED protein-coding ENSG00000188811 HGNC:33751 18377 REVIEWED 1319777 NHP2 NHP2 ribonucleoprotein This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008] 5 5 5 q35.3 173203446 173207943 - 177576464 177580961 - 178149463 178153960 - 1580863;6480464;6907045;8699517;7240710;8554872 11042152;11074001;11790298;12020816;12429849;12477932;14702039;15044956;15489334;15635413;15814878;15889794;18082603;18482256;18523010;19095616;19471022;19615732;19738201;19850743;19953087;20008900;20098747;20301779;20360068;21139048;21145461;21693764;21963094;21988832;22178446;22939629;22944692;23455924;24457600;24654937;24778252;9843512;9847074 55651 D6RC52;D6RCB9;H0YC83;J3QSY4;Q9NX24 ABBA01009989;AC136632;AF161404;AF401217;AF401219;AJ293309;AK000486;AMYH02012859;BC000009;BC006387;BE797477;BG827491;BM913344;CH471165;CR457238;NG_011765;NM_001034833;NM_017838 AAF28964;AAH00009;AAH06387;AAL02173;AAL02175;BAA91198;CAC08452;CAG33519;EAW53848;NP_001030005;NP_060308;Q9NX24 Hs.744074 1678743;1685417;1794970;2132626;5091006 A006X22;A008D19;PMC86556P1;RH12541;RH98314 DKCB2;NHP2P;NOLA2 H/ACA ribonucleoprotein complex subunit 2;NHP2 ribonucleoprotein homolog;NHP2-like protein;OTTHUMP00000161486;OTTHUMP00000223997;OTTHUMP00000223998;OTTHUMP00000223999;nucleolar protein family A member 2;nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs);snoRNP protein NHP2 APPROVED protein-coding ENSG00000145912 HGNC:14377 07570 606470;613987 REVIEWED 730911 NGFR nerve growth factor receptor Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008] 17 17 17 q21-q22 44027660 44047391 + 47572655 47592382 + 49495293 49515020 + 1580863;4891065;5144100;5144063;5144065;5144144;5144070;5144072;5144116;5144067;5144150;5508312;5508386;5508228;5508376;5508379;5508800;5508384;5508225;5508374;1642301;5508479;5508481;5508229;5508378;5508382;5508387;5508447;5508452;6480464;5508695;6907045 10025723;11223160;11689207;11829348;12469361;12540484;12653731;12741461;15274039;15795180;16497176;16519950;16586073;16603479;16704535;17576803;17673270;18189308;18647313;18780967;19334058;19824047;20060234;20943663;20973063;21136036;7807351;8762194;8866783 10022904;10485890;10514511;10544233;10545116;10595511;10764727;10985348;11150334;11201742;11244088;11278287;11279055;11487608;11729324;11756426;11756498;11818506;11830582;11927634;12011108;12034707;12107411;12163480;12371150;12376548;12414813;12422217;12426574;12460612;12477932;12604596;12672029;12676795;12682012;12692556;12716928;12768436;12787561;12789270;1281863;12821676;12821936;12843241;12913006;12951563;12963025;1316918;1324502;14593116;14689592;14960584;14966521;14985763;15015775;15128850;15131306;15165637;15258592;15310753;15337528;15378608;15489334;15523689;15681836;15694321;15701642;15721744;15784962;15953414;16099913;16113645;16215275;16215672;16344560;16460673;16498402;16555252;16630834;16826429;16893414;16951226;16997282;17110619;17196528;17287525;17335080;17349981;17355907;17357149;17492429;17510309;17531524;17582777;17603629;17619016;17696644;17703412;17850422;17947706;17971243;17986144;18029348;18036543;18081157;18196575;18203754;18221326;18305571;18319596;18394312;18428117;1846035;18462868;18470533;18477014;18540978;18566344;19041213;19066726;19072833;19086053;19131967;19169037;19177265;19225519;19240061;19258923;19301169;19386345;19490633;19598235;19615036;19758188;19918800;19945432;20022966;20219210;20237496;20351714;20503287;20530577;20549701;20596026;20659559;20680101;20854189;21097678;21123453;21142793;21151024;21178583;21307265;21343882;21393506;21397006;21418516;21503896;21807134;21814043;21851375;21900206;21938001;21982860;22040987;22068036;22138126;22161836;22170235;22207443;22236693;22343487;22419851;22454143;22558167;22566094;22610502;22635104;22706116;22710983;22932111;22954667;23017601;23065828;23105112;23105113;23260665;23268325;23300742;23371454;23471969;23489213;23535732;23576602;23598407;23598854;23600400;23616554;23626764;23642664;23820422;23831066;23975178;24026251;24047966;24226422;24481864;24519935;24590808;24604282;2850481;2989274;3006050;3008331;3020711;3022937;7541035;7541633;7903404;8407983;8614797;8627329;8889548;9252186;9368064;9575168;9626059;9665396;9867838;9915784;9927421 4804 B4E096;P08138 ABBA01041208;AC006487;AC015656;AK303278;AK313654;AMYH02033575;AMYH02033576;BC050309;BC052797;BQ639556;CH471109;CK299927;CS483670;DA115173;HI179096;M14764;M21621;NM_002507 AAA36363;AAB59544;AAH50309;BAG36408;BAG64358;CAM36380;CBX53856;EAW94677;NP_002498;P08138 Hs.415768;Hs.681726 1650960;1659866;1681506;1732770;1741389;1753809;2114112;2170975 D17S1169;D17S733;GDB:180972;NGFR;RH76193;RH78089;SHGC-108018;WI-18509 CD271;Gp80-LNGFR;TNFRSF16;p75(NTR);p75NTR NGF receptor;OTTHUMP00000220318;OTTHUMP00000220319;TNFR superfamily, member 16;low affinity nerve growth factor receptor;low affinity neurotrophin receptor p75NTR;low-affinity nerve growth factor receptor;p75 ICD;tumor necrosis factor receptor superfamily member 16 APPROVED protein-coding ENSG00000064300 HGNC:7809 01197 162010 REVIEWED 1346349 NHP2P1 NHP2 ribonucleoprotein pseudogene 1 10 10 10 q23.32 87720588 87721344 + 93976049 93976812 + 92216292 92217055 + 414200 ABBA01021916;AL158040;AMYH02023529;NG_005297 1678743;1794970 PMC86556P1;RH12541 NOLA2P1;bA360G10.4 APPROVED pseudo HGNC:23582 INFERRED 3322379 NHP2P2 NHP2 ribonucleoprotein pseudogene 2 7 7 7 p15.2 27076677 27077431 + 27087754 27088498 + 27048135 27048879 + 442290 ABBA01056755;AC004079;AMYH02015407;CH236948;NG_005298 1668699;1794970;1807222;1843214;2057882;2057884;2057886;2057888;2057890;2057892;2057894;2057896;2057898;2057900;2185008;2192038;2192040 ECD04579;ECD22815;GDB:1318547;PMC86556P1;REN100116;REN100117;REN100118;REN100119;REN100120;REN100121;REN100122;REN100123;REN100124;REN100125;WI-11218;stSG609269;stSG609270 TCAG_30283 APPROVED pseudo HGNC:22797 INFERRED 1317985 NHLH2 nescient helix loop helix 2 ENCODES a protein that exhibits RNA polymerase II activating transcription factor binding; INVOLVED IN cell differentiation (inferred); central nervous system development (inferred); mating behavior (inferred); FOUND IN nucleus (inferred); transcription factor complex (inferred); INTERACTS WITH methylmercury chloride; valproic acid; N-nitrosodiethylamine (ortholog) 1 1 1 p12-p11 114607811 114612562 - 116378998 116383747 - 115836377 115841126 - 1580863;6480464 12477932;1328219;14702039;1528853;15489334;15930276;16314316;16344560;16710414;18815487;19898481;21573214;22354994;23026212;9455484 4808 A6PVY9;Q02577 AA166895;AB007959;ABBA01068480;AK056621;AK312849;AL449264;AMYH02001790;BC028729;BC096359;BC096360;CH471122;DA608185;M96740;M97508;NM_001111061;NM_005599;XM_006710666 AAA58635;AAH96359;AAH96360;BAG35702;EAW56637;EAW56638;NP_001104531;NP_005590;Q02577;XP_006710729 Hs.46296 1757651;2220426 SHGC-146153;UniSTS:481764 HEN-2;HEN2;KIAA0490;NSCL-2;NSCL2;bHLHa34 OTTHUMP00000013748;OTTHUMP00000196793;OTTHUMP00000196794;class A basic helix-loop-helix protein 34;helix-loop-helix protein 2 1643449 BW98_H protein-coding ENSG00000177551 HGNC:7818 01213 162361 VALIDATED 6481387 NHS-AS1 NHS antisense RNA 1 X p22.13 17552349 17559127 - 100873920 ABBA01071556;ABBA01071557;AMYH02038940;BE048595;HG512453;KF458995;NG_011553;NR_046632;Z93022 Hs.584577 RP1-60N8.2 APPROVED ncrna HGNC:40403 VALIDATED 730892 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Two transcript variants encoding different isoforms have been found for this gene. 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4790 D6RC45;D6RDI9;D6RF93;D6RH30;P19838 ABBA01063700;ABBA01063701;AC021120;AF213884;AI076882;AK122850;AK291450;AMYH02009817;AY223820;BC033210;BC051765;BQ023914;CH471057;CR749522;JA362590;JB263740;KF457798;M55643;M58603;NM_001165412;NM_003998;XM_005263029;XM_006714229;Z47748 AAA36360;AAA36361;AAF35232;AAH33210;AAH51765;AAO30127;ABZ92169;BAF84139;BAG53760;CAB94757;CAH18336;CCA94577;CDH63539;EAX06134;EAX06135;EAX06136;NP_001158884;NP_003989;P19838;XP_005263086;XP_006714292 Hs.618430 1663117;1672744;1710862;1797900;1849268;1855725;1858086;2113770;2128333;2140667;2144633;2166873;2176619 A006S27;NFKB1;NFKB1_1991;RH16194;RH46916;SHGC-12798;SHGC-24813;SHGC-24828;SHGC-50563;SHGC-50573;SHGC-59270;SHGC-59779;SHGC-84209 DKFZp686C01211;EBP-1;KBF1;MGC54151;NF-kB1;NF-kappa-B;NF-kappaB;NFKB-p105;NFKB-p50;p105;p50 DNA binding factor KBF1;DNA-binding factor KBF1;NF-kappabeta;NFkappaB;OTTHUMP00000161765;OTTHUMP00000216418;OTTHUMP00000219572;nuclear factor NF-kappa-B p105 subunit;nuclear factor NF-kappa-B p50 subunit;nuclear factor kappa-B DNA binding subunit APPROVED protein-coding ENSG00000109320 HGNC:7794 01238 164011 REVIEWED 1352036 NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014] X X X p22.13 21515624 21873432 + 17393357 17754114 + 17375234 17735994 + 1598795;6480464;7240710;8554872;8699517 16736028 10394933;10588643;12173028;12477932;14564667;14595111;15370543;15466011;15623749;15772651;16675532;16964243;17081983;17417607;18949062;19414485;1971992;19913121;20332100;20628086;20882036;21559051;22229851;22544364;23566852 4810 Q6T4R5 ABBA01071536;ABBA01071537;ABBA01071538;ABBA01071539;ABBA01071540;ABBA01071541;ABBA01071542;ABBA01071543;ABBA01071544;ABBA01071545;ABBA01071546;ABBA01071547;ABBA01071548;ABBA01071549;ABBA01071550;ABBA01071551;ABBA01071552;ABBA01071553;ABBA01071554;ABBA01071555;ABBA01071556;ABBA01071557;ABBA01071558;ABBA01071559;ABBA01071560;ABBA01071561;ABBA01071562;ABBA01071563;ABBA01071564;ABBA01071565;ABBA01071566;ABBA01071567;ABBA01071568;ABBA01071569;ABBA01071570;ABBA01071571;ABBA01071572;ABBA01071573;ABBA01071574;ABBA01071575;ABBA01071576;AC122692;AK302437;AL034404;AL845433;AMYH02038938;AMYH02038939;AMYH02038940;AMYH02038941;AY436752;AY456992;AY456993;BC136415;BC171763;BQ017161;BX294650;CR749300;CR936788;GQ988776;KF458989;KF458990;KF458991;KF458992;KF458993;KF458994;KF458995;KF458997;KF458998;KF458999;KF459000;KF459001;KF459002;KF459003;KF510657;KF510659;KF510660;NG_011553;NM_001136024;NM_001291867;NM_001291868;NM_198270;XM_005274539;Z93022;Z93242 AAI36416;AAI71763;AAR03104;AAS13455;AAS13456;ADN85614;BAH13708;CAH18155;NP_001129496;NP_001278796;NP_001278797;NP_938011;Q6T4R5;XP_005274596 Hs.201623 1339197;1340456;1656337;1662183;1676610;1702472;1702530;1702678;1714567;1740341;1769641;1774784;2127071;2139649;2147030;2148707;2153068;7185136 DXS1195;DXS1317;DXS418;DXS43;DXS6747;DXS7174;DXS7175;DXS7661;DXS7670;DXS7991;DXS7993;DXS8019;DXS8184;G09285;L77751;RH119797;RH93889 CTRCT40;CXN;DKFZp781F2016;DKFZp781L0254;FLJ22511;SCML1 Nance-Horan syndrome protein;OTTHUMP00000024417;OTTHUMP00000226877;congenital cataracts and dental anomalies protein APPROVED protein-coding ENSG00000188158 HGNC:7820 02351 300457;302200;302350 REVIEWED 1603499 NHSL2 NHS-like 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH clofibrate (ortholog) X X X q13.1 71474914 71707604 + 71130938 71363424 + 71911088 72147604 + 6480464;8554872 12477932 340527 D6RBM4;Q5HYW2 ABBA01046170;ABBA01046171;ABBA01046172;ABBA01046173;ABBA01046174;ABBA01046175;ABBA01046176;ABBA01046177;ABBA01046178;ABBA01046179;ABBA01046180;ABBA01046181;ABBA01046182;ABBA01046183;ABBA01046184;ABBA01046185;ABBA01046186;ABBA01046187;AL929401;AMYH02039699;BC033261;BC136756;BX119917;NG_029583;NM_001013627;XM_006724644 AAI36757;NP_001013649;Q5HYW2;XP_006724707 Hs.397836 2134741;2151723;2153037;2159528;2168073;2176655;2181628;2183788;5093504 A007B16;A009P47;AF020216;AFMa295yf9;AFMb043zh1;DXS7123;DXS9787;G32757;L78114 RP11-262D11.5 NHS-like protein 2 protein-coding HGNC:33737 15001 VALIDATED 6481361 NICN1-AS1 NICN1 antisense RNA 1 p21.31 100874017 AC104452 APPROVED ncrna HGNC:40838 1350970 NICN1 nicolin 1 This protein encoded by this gene localizes to the nucleus and is expressed in numerous tissues including brain, testis, liver, and kidney. This refseq contains genomic sequence in its 3' UTR which is not supported by experimental evidence. Computer predictions indicate that this region of the 3' UTR contains hairpin-forming self-complementary sequence which is possibly excised after transcription. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 49424553 49431543 - 49459766 49466777 - 49422333 49429324 - 1580863;6480464;8554872 12392556;12477932;12487019;14702039;15489334;19692168;20307617;20821255 84276 B2R7Q3;B4DX77;Q9BSH3 ABBA01024587;AC104452;AF538150;AJ299740;AK094248;AK301846;AK313073;AMYH02006751;BC005050;BC050653;CH471055;NG_033046;NM_032316 AAH05050;AAH50653;AAN52734;ADZ15953;BAG35900;BAG52849;BAG63289;CAC82516;EAW64987;EAW64988;NP_115692;Q9BSH3 Hs.191460 1858464;5015619;5015961;5016596;5037552 A002R20;D11S3114;D15S1477;D8S2279;GDB:631802 MGC12936;NPCEDRG;PGs5 OTTHUMP00000210795;OTTHUMP00000210796;OTTHUMP00000210797;OTTHUMP00000210798;OTTHUMP00000238581;nicolin-1;tubulin polyglutamylase complex subunit 5 APPROVED protein-coding ENSG00000145029 HGNC:18317 17631 611516 REVIEWED 1352304 NGF nerve growth factor (beta polypeptide) This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008] 1 1 1 p13.1 114057456 114109776 - 115828537 115880857 - 115285916 115338384 - 1580935;1580863;2303801;2303794;2303798;2303791;2303795;2303806;2303796;4891133;4891121;4891064;4891065;4891068;4891122;4891123;4891108;4891110;4891115;5144111;5144074;5144128;5144060;5144065;5144061;5144062;5144116;5144150;5144073;5144120;5144069;5144071;5144149;5144109;5144144;5508386;5508379;5508382;6480464;6907045;7242913;7242771;7242773;7242774;7242775;7242776;7242778;7242779;7242780;7242781;7242782;7242783;7242798;7242799;7242800;7242801;7242802;7242803;7242804;7242805;7242806;7242808;7242845;7242849;8655553;8655554;8554872;8657088;8699517;8657069;8657022 10224365;10797303;11350415;11425916;11689207;11737043;11935372;12133564;12469361;12499054;12752594;12917229;14587217;15448108;16098667;16203088;16315781;16915089;17050722;17073871;17164945;17497413;17667845;17673270;17905097;18162370;18282491;18448607;18647313;18938194;19061539;19103210;19129380;19149268;19169037;19200610;19233274;19824047;19958603;19996110;20075049;20127836;20227820;20595895;20973063;21044172;21059230;21085492;21136036;21178826;21368378;21605172;21717507;21826717;22220508;22473863;22683802;22776032;22795377;22839415;23028581;23301927;23528019;24691584;8866783;9798454 10022904;10322959;10391209;10490030;10629055;10681572;10708862;10712923;10764727;10806167;11157096;11244088;11278287;11487608;11520933;11729324;11738045;11830582;11877300;12205295;12371150;12376548;12397373;12453472;12477932;12531456;12676754;12676795;12787561;12787574;12900521;12918708;12925217;1383421;14708938;14960584;14970904;14976160;14985763;15128850;15131306;15258592;15361847;15489334;15523689;15544837;15681836;15710408;15721744;15829579;16079148;16153003;16215275;16284401;16313302;16319926;16546643;16630834;16710414;16741963;16786155;16832412;16839849;16919030;1692298;16939974;16997282;17081983;17192954;17335080;17487982;17638883;17673289;17703412;17724343;17850422;17854142;17881264;17893397;17992191;18068123;18179783;18191449;18199526;18203754;18221326;18280641;18300262;18305571;18349121;18420729;18438945;18596692;18635195;18727839;18763222;18780967;18810245;18830907;18922682;18922683;19023688;19038326;19038341;19054925;19063739;19076929;19086053;19120874;19177265;19183217;19221293;19258923;19264868;19399531;19403065;19475530;19490633;19560628;19598235;19626992;19639490;19649262;19651702;19668232;19695094;19758188;19844736;19874574;19934806;19945432;19950533;19957796;20119692;20219210;20233324;2025430;20360245;20375017;20398908;20503287;20518854;20542022;20680101;20854189;20863878;20881126;20889312;20923384;20978020;21047631;21153361;21217078;21294249;21321391;21358750;21378097;21387003;21397006;21429417;21596795;21621608;21673280;21693611;21768088;21893340;22036954;22040304;22105621;22192858;22251933;22272270;22301435;22330829;22411587;22454143;22517242;22537619;22625872;22703891;22731611;22789557;22804708;22932111;22948388;22948508;22954667;23034254;23086522;23091165;23095849;23128606;23234779;23398122;23535911;23542336;23561736;23570892;23574818;23608378;23637956;2374737;23769609;23771673;23778138;23869086;23883529;23885099;23912036;23959444;23973519;23989259;24112788;24146927;24180625;24212932;24585880;24939299;25001650;2906326;3871525;6327169;6330750;6648531;6688123;7789166;7806500;8178451;8615794;8808283;8895847;9069267;9182757;9252186;9351801;9575168;9915784 4803 P01138 AB037517;ABBA01068473;AF150960;AF411526;AL049825;AL512638;AL606499;AMYH02001788;BC032517;BC126148;BC126150;BE045524;BT019733;CH471122;CR541855;KF455025;M21062;NG_007944;NM_002506;V01511;X52599;XM_006710663;XM_006710664;XM_006710665 AAA59931;AAD55975;AAH32517;AAI26149;AAI26151;AAL05874;AAV38538;ADR82879;BAA90437;CAA24755;CAA36832;CAG46653;EAW56629;NP_002497;P01138;XP_006710726;XP_006710727;XP_006710728 Hs.2561 1655650;1736882;1736894;1736900;1736915;1741561;2127733;2178668;5492049 D1S2148;D1S2206;D1S2209;D1S2220;D1S3540;GDB:181532;NGFB;SHGC-75366;hsbngfac Beta-NGF;HSAN5;MGC161426;MGC161428;NGFB OTTHUMP00000013653;beta-nerve growth factor;nerve growth factor, beta polypeptide;nerve growth factor, beta subunit APPROVED protein-coding ENSG00000134259 HGNC:7808 08874 162030 REVIEWED 1353844 NICN2P nicolin 2, pseudogene X X X p11.3-p11.22 51323745 51329211 - 47128504 47133961 - 47269105 47274562 - 12392556 171176 ABBA01052323;ABBA01052324;ABBA01052325;AL591503;AMYH02039274;KF459104;NG_005534 pseudo HGNC:18322 INFERRED 1349833 NIDDM1 non-insulin-dependent diabetes mellitus (common, type 2) 1 ASSOCIATED WITH Diabetes Mellitus, Noninsulin-Dependent, 1 (inferred) 7240710 8640221 4812 HGNC:7822 601283 1347136 NHP2L1 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q13 25876373 25891348 - 42069937 42085296 - 41673933 41690449 - 1580863;6480464;6907045;8554872 10545122;10591208;10593953;11163207;11790298;12011111;12203836;12226669;12417735;12429849;12477932;12777385;15461802;15489334;15635413;16169070;16344560;16723661;17412961;17636026;17643375;18044964;19620283;19738201;20360068;21139048;21145461;21319273;21890473;21906983;21963094;21988832;22178446;22190034;22365833;22505724;22623428;22863883;22939629;23000965;23166591;23602568;24457600;24583282;24778252;24816145;8978773;9114055 4809 B1AHD1;P55769;Q6FHM6 ABBA01055651;AF091076;AF155235;AK311800;AMYH02038447;BC005358;BC019282;BC095439;BG164621;BI770951;CF552526;CH471095;CQ840914;CR456531;CR541725;D50420;DB021462;FB353524;NM_001003796;NM_005008;XM_005261620;XM_006724258;Z83840 AAC72945;AAF06959;AAH05358;AAH19282;AAH95439;BAA23363;BAG34743;CAG30417;CAG46526;CAH05699;CAK54562;CAK54861;CAR82348;EAW60450;EAW60451;EAW60452;EAW60453;NP_001003796;NP_004999;P55769;XP_005261677;XP_006724321 Hs.182255 1653609;1688955;1852702;2147061 IB1149;RH15753;RH47477;SHGC-7075 15.5K;FA-1;FA1;NHPX;OTK27;SNRNP15-5;SNU13;SPAG12;SSFA1 NHP2-like protein 1;OTTHUMP00000199328;OTTHUMP00000199329;OTTHUMP00000199330;U4/U6.U5 tri-snRNP 15.5 kDa protein;[U4/U6.U5] tri-snRNP 15.5 kD RNA binding protein;high mobility group-like nuclear protein 2 homolog 1;non-histone chromosome protein 2-like 1;small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5);sperm specific antigen 1 APPROVED protein-coding ENSG00000100138 HGNC:7819 03197 601304 REVIEWED 1345364 NIFK nucleolar protein interacting with the FHA domain of MKI67 This gene encodes a protein that interacts with the forkhead-associated domain of the Ki-67 antigen. The encoded protein may bind RNA and may play a role in mitosis and cell cycle progression. Multiple pseudogenes exist on chromosomes 5, 10, 12, 15, and 19.[provided by RefSeq, Jan 2009] 2 2 2 q14.3 115809158 115819140 - 122484521 122494503 - 121726945 121736927 - 1302356;6480464 11342549 11793364;12477932;14659764;15489334;15815621;16244663;16344560;17891046;19389623;20360068;21139048;21145461;21282530;21539773;21890473;22586326;22939629;22944692;23000965;23455922;24457600;24654937;24690621;24778252;24816145;25027693 84365 C9J6C5;C9J808;H7BZL0;Q9BYG3 AB044971;ABBA01032248;AC018737;AK291903;AK299814;AK311033;AMYH02004678;BC012457;BC022990;BC024238;BE671589;CH471103;DA570244;NM_032390 AAH12457;AAH22990;AAH24238;AAY14830;ABM82604;ABM85789;BAB41210;BAF84592;BAG61686;EAW95259;EAW95260;EAW95261;NP_115766;Q9BYG3 Hs.367842 1664204;2116784 A004C36;RH12564 MKI67IP;Nopp34;hNIFK MKI67 (FHA domain) interacting nucleolar phosphoprotein;MKI67 FHA domain-interacting nucleolar phosphoprotein;OTTHUMP00000162139;OTTHUMP00000203751;nucleolar phosphoprotein Nopp34;nucleolar protein interacting with the FHA domain of pKi-67 APPROVED protein-coding ENSG00000155438 HGNC:17838 17576 611970 REVIEWED 1323271 NID2 nidogen 2 (osteonidogen) This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010] 14 14 14 q22.1 32338519 32403077 - 52471520 52535949 - 52004802 52069228 - 1580863;6480464;8554872 10544250;10772929;11493006;11733994;11847210;11956183;12005023;12475645;12477932;15231748;16344560;17008882;17328794;17903307;19883638;21558411;21815147;23681936;23682613;8889548;9733643 22795 H0YJV3;Q14112 AB009799;ABBA01018162;AJ223500;AK291652;AK298542;AK300462;AL118557;AL358333;AL701794;AMYH02029186;AMYH02029187;AU119925;BC035608;BM719690;BX648241;CA413165;CH471078;D86425;KF455894;NM_007361;XM_005267405;XM_005267406;XM_005267407;XM_006720079 AAH35608;BAA13087;BAA24112;BAF84341;BAG60740;BAG62181;CAA11418;CAI56714;EAW65658;NP_031387;Q14112;XP_005267462;XP_005267463;XP_005267464;XP_006720142 Hs.369840 1339651;1652108;1667507;1736456;1753993;1856165;2108843;2135439 D14S1018;D14S1197;D14S1201;D14S713E;D14S836;HUM0S17C09;NID2_9269;SHGC-132026 NID-2 OTTHUMP00000178985;nidogen-2;osteonidogen APPROVED protein-coding ENSG00000087303 HGNC:13389 05654 605399 REVIEWED 1351836 NIDDM2 non-insulin-dependent diabetes mellitus (common, type 2) 2 ASSOCIATED WITH Diabetes Mellitus, Noninsulin-Dependent, 2 (inferred) 7240710 8782826 4813 1298293;1341685 D12S1052;D12S375 HGNC:7823 601407 7205013 NIFKP1 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 1 10 10 10 p11.23 30433989 30434978 + 30669061 30670050 + 30380132 30381121 + 401825 ABBA01034346;AL161651;AMYH02022559;NG_009461 1338503 D1S2892 MKI67IPP1 APPROVED pseudo HGNC:44949 INFERRED 7385886 NIFK-AS1 NIFK antisense RNA 1 2 2 2 q14.2 115731874 115810773 + 122407202 122486136 + 121649654 121728560 + 12477932;14702039 254128 ABBA01032246;ABBA01032247;ABBA01032248;AC018737;AK098264;AMYH02004677;AMYH02004678;BC036624;BC047384;HG494566;HG494567;HG494568;HG494569;HG494570;NR_037856;NR_037857;NR_037858 Hs.712685 AC018737.1 ncrna ENSG00000236859 HGNC:27385 VALIDATED 7205117 NIFKP2 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 2 5 5 5 q35.2 170388773 170389726 + 174350049 174351002 + 174923046 174923999 + 645398 ABBA01044000;AC008413;AMYH02012797;NG_009465 MKI67IPP2 APPROVED pseudo HGNC:44950 INFERRED 7204810 NIFKP3 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 3 12 12 12 p13 9332259 9333278 - 7756850 7757869 - 7604254 7605273 - 100270648 ABBA01012201;AC006927;AMYH02025967;NG_009474 MKI67IPP3 APPROVED pseudo HGNC:44951 INFERRED 7204925 NIFKP4 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 4 15 15 15 q24.2 52494750 52496038 - 75544032 75545320 - 75251691 75252979 - 100128707 ABBA01060519;AC068338;AMYH02030813;NG_009467 MKI67IPP4 APPROVED pseudo HGNC:44952 INFERRED 1349811 NHSL1 NHS-like 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene diol epoxide I; crocidolite asbestos 6 6 6 q23.3 139483315 139633785 - 138743180 138893726 - 138422043 138572531 - 6480464;8554872 10718198;12477932;15466011 57224 E9PAK2;E9PMJ0;H0YDF6;Q5SYE7 AB037778;ABBA01025808;ABBA01025809;AK000699;AK025199;AK025347;AK299585;AK307584;AL391669;AL590611;AL590617;AL591375;AMYH02014579;AMYH02014580;AMYH02014581;AMYH02014582;BC020940;BC045181;BX647246;CH471051;NM_001144060;NM_020464;XM_005267062;XM_005267063 AAH45181;BAA92595;BAG61520;EAW47916;NP_001137532;NP_065197;Q5SYE7;XP_005267119;XP_005267120 Hs.652741 1646262;1646264;1665540;2155378;2163190;2169020;2181434;2182200;5016596;5037552;5114710 A001U09;D6S1437;D8S2279;G19653;GDB:631802;RH44978;RH46853;RH48356;RH69281;STS-T35695;WI-17933 C6orf63;KIAA1357 NHS-like protein 1;OTTHUMP00000017937;OTTHUMP00000017938;OTTHUMP00000236390 protein-coding ENSG00000135540 HGNC:21021 VALIDATED 7204943 NIFKP6 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 6 19 19 19 q13.41 48950536 48957897 - 51899492 51906853 - 51396238 51403599 - 100132796 ABBA01068274;AC008750;AMYH02036379;NG_009462 MKI67IPP6 APPROVED pseudo HGNC:44954 INFERRED 7204911 NIFKP5 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 5 15 15 15 q26.1 67231901 67233202 - 90827555 90828856 - 90284323 90285624 - 100128397 ABBA01053051;AC091167;AMYH02031038;NG_009470 MKI67IPP5 APPROVED pseudo HGNC:44953 INFERRED 7204961 NIFKP8 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 8 15 15 15 q25.3 62153138 62154108 - 85724386 85725356 - 85181155 85182125 - 642907 ABBA01052954;AC044860;AMYH02030962;NG_009464 MKI67IPP8 APPROVED pseudo HGNC:44956 INFERRED 1321170 NIF3L1 NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) ENCODES a protein that exhibits transcription factor binding; INVOLVED IN positive regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; atrazine 2 2 2 q33 195508680 195523285 + 201754050 201768655 + 200889327 200903932 + 6480464;8554872 11124544;11161814;12477932;12522100;12951069;14702039;15163635;15342556;15489334;16189514;16713569;19060904;20877624;21139048;21890473;21988832;22863883;22939629;8125298;8889548 60491 B8ZZI0;C9JN42;E7EXA3;H7C1A8;Q9GZT8 AB038949;ABBA01062524;AC005037;AF060513;AF182416;AF283538;AK023378;AK225905;AK314709;AL834430;AMYH02005543;AY251943;AY251944;BC007654;BG724012;BM974977;BP194872;CH471063;NM_001136039;NM_001142355;NM_001142356;NM_021824;XM_005246742;XM_006712676 AAG14952;AAG43131;AAG44846;AAH07654;AAP84063;AAP84064;AAY14724;ABM87611;BAB14551;BAB32499;CAH56370;EAW70224;EAW70225;EAW70226;EAW70227;NP_001129511;NP_001135827;NP_001135828;NP_068596;Q9GZT8;XP_005246799;XP_006712739 Hs.145284 1664543;1850842 RH12100;RH45475 ALS2CR1;CALS-7;MDS015 GTP cyclohydrolase I;NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1;NIF3-like protein 1;OTTHUMP00000206189;OTTHUMP00000206190;OTTHUMP00000206191;OTTHUMP00000206192;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 1;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein;putative GTP cyclohydrolase 1 type 2 NIF3L1 APPROVED protein-coding ENSG00000196290 HGNC:13390 10424 605778 VALIDATED 1604515 NIM1K NIM1 serine/threonine protein kinase ENCODES a protein that exhibits ATP binding; magnesium ion binding; protein serine/threonine kinase activity; INVOLVED IN protein phosphorylation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; dioxygen; valproic acid 5 5 5 p12 43083987 43171889 + 43192170 43280952 + 43192054 43280850 + 6480464;8554872 12477932;14702039;15489334;15733851;21832049 167359 Q8IY84 ABBA01024255;ABBA01024256;AC106800;AC114947;AK122985;AMYH02011239;AMYH02011240;AX358451;BC036422;CH471119;DA778478;KF457893;KF457894;KF459892;NM_153361;NR_072980;XM_006714450;XM_006714451 AAH36422;ABM82568;ABM85757;BAG53833;CAD23328;EAW56050;EAW56051;EAW56052;EAW56053;NP_699192;Q8IY84;XP_006714513;XP_006714514 Hs.25845 1660554;1685842;1737317;1785730;2139238 D13S924;D5S601;RH15960;RH25754;SHGC-80869 MGC42105;NIM1 NIM1 serine/threonine-protein kinase;OTTHUMP00000161798;OTTHUMP00000221636;serine/threonine-protein kinase NIM1 APPROVED protein-coding ENSG00000177453 HGNC:28646 14618 VALIDATED 1345024 NIP1L NIP1 nuclear import protein-like (S. cerevisiae) 4816 HGNC:7826 1604826 NINL ninein-like ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN G2/M transition of mitotic cell cycle (inferred); mitotic cell cycle (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); microtubule (inferred); INTERACTS WITH cobalt dichloride; copper(2+) sulfate; coumestrol 20 20 20 p11.22-p11.1 25507056 25640061 - 25433333 25566167 - 25452697 25585531 - 6480464;8554872 10231032;11076968;11780052;12221128;12477932;12852856;14702039;15489334;16169070;16189514;16254247;16462731;17403670;18029348;18538832;18826961;19509300;19724857;20093778;20864540;20890132;21505454;22353935;23443559;24255178;7790358 22981 H0Y2V7;Q9Y2I6 AB023197;ABBA01048716;ABBA01048717;ABBA01048718;AI024623;AK021854;AK093569;AK293991;AK309298;AL031672;AL161802;AMYH02036850;AMYH02036851;AMYH02036852;BC036380;CH471133;EU718622;NM_025176;XM_005260678;XM_005260679;XM_005260680;XM_006723552;XM_006723553;XM_006723554 AAH36380;ACE78295;BAA76824;BAB13914;BAH11644;EAX10082;EAX10083;EAX10084;EAX10085;EAX10086;NP_079452;Q9Y2I6;XP_005260735;XP_005260736;XP_005260737;XP_006723615;XP_006723616;XP_006723617 Hs.631508 1685127;1686368;1687441;1694460;1721045;1784352;2180617;5015961;5022578 D15S1477;D1S1423;G18114;G42950;G59504;RH78164;RH80509;RH92230;SHGC-106893 FLJ11792;KIAA0980;NLP;dJ691N24.1 OTTHUMP00000043419;ninein-like protein protein-coding ENSG00000101004 HGNC:29163 11120 609580 VALIDATED 7241715 NIP7P1 NIP7, nucleolar pre-rRNA processing protein pseudogene 1 10 10 10 q23.33 88606707 88608387 - 94865503 94867183 - 93105746 93107426 - 389997 ABBA01021881;AL159171;AMYH02023549;CH471066;NG_023276 EAW50077 1726811 G62795 pseudo HGNC:45180 INFERRED 7241716 NIP7P2 NIP7, nucleolar pre-rRNA processing protein pseudogene 2 3 3 3 q22.1 130546376 130546915 + 132120097 132120636 + 132401253 132401792 + 646392 ABBA01059186;AC020633;AMYH02007688;NG_022272 pseudo HGNC:45181 INFERRED 7241750 NIP7P3 NIP7, nucleolar pre-rRNA processing protein pseudogene 3 6 6 6 117201249 117201760 - 116458224 116458735 - 116137061 116137572 - 100421245 ABBA01026047;AL121963;AMYH02014349;NG_025858 pseudo HGNC:45182 INFERRED 1606742 NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008] 15 15 15 q11.2 1293128 1336596 + 23043279 23086843 - 22786225 22829789 + 6480464;7240710;8554872;8699517 12477932;12805275;14508708;14508710;15643603;15711826;16267846;16335952;16982806;17166836;17205300;17420921;17928003;18191948;19091982;19620182;20301682;20398908;20685689;21419568;21599812;22378146;24075313;7825577;8618696 123606 H0YLJ9;H0YLP7;H0YMY7;Q3SYP4;Q7RTP0;Q8TAY1 AB089319;ABBA01040245;ABBA01040246;AC011767;AK057846;AK314073;AMYH02030036;AMYH02030037;AMYH02030038;BC025678;BC103705;BK001020;BX648722;CH471258;CQ834740;NG_009056;NM_001142275;NM_144599 AAH25678;AAI03706;AAI56248;AAI72484;ABM82178;ABM85364;BAC67707;BAG36773;CAH05585;CAI45979;DAA01477;EAW65549;EAW65550;EAW65551;NP_001135747;NP_653200;Q7RTP0 Hs.511797 2106631;2133726;2133728;2153755;2173754 A002B45;D15S912;G19907;RH11248;SPG6__5293 FSP3;MGC102724;MGC35570;SPG6 OTTHUMP00000159352;magnesium transporter NIPA1;non-imprinted in Prader-Willi/Angelman syndrome 1;non-imprinted in Prader-Willi/Angelman syndrome region protein 1;spastic paraplegia 6 protein APPROVED protein-coding ENSG00000170113 HGNC:17043 10487 600363;608145 REVIEWED 737172 NID1 nidogen 1 This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008] 1 1 1 q43 209382414 209471741 - 236139130 236228481 - 235975830 236065181 - 1580863;6480464;8554872 10772929;11376898;11419941;11493006;11574465;11733994;11847210;11956183;12005023;12180907;12477932;12931195;1499567;15146197;15231748;15489334;16344560;16574105;16710414;1680863;17008882;17328794;19056867;1906509;2119632;21478494;2180767;22952693;23674478;23681936;2471408;2506015;2574658;7500359;7557988;7867626;8354280;8831898;8995276;9278415;9299350;9501082;9647658;9686320;9733643 4811 P14543 AB209448;ABBA01033149;ABBA01033150;ABBA01033151;AK297234;AL122018;AL139161;AMYH02002957;BC012501;BC045606;BQ549657;CH471098;CN267119;DA269707;DN999415;M27445;M30269;NG_033228;NM_002508;X82245;XM_006711771 AAA57261;AAA59932;AAH45606;BAD92685;BAG59717;CAA57709;EAW70039;EAW70040;EAW70041;NP_002499;P14543;XP_006711834 Hs.356624 1718381;1754881;1776358;2116571;2116573;2126630;2181340;2190351;2218572 A005W43;AL009616;CTC-USP-BR001;D1S2389;G20558;NID_942.2;RH122964;SHGC-141812;SHGC-76550 NID;NID-1 OTTHUMP00000037970;OTTHUMP00000038291;enactin;entactin;nidogen (entactin);nidogen-1 APPROVED protein-coding ENSG00000116962 HGNC:7821 00574 131390 REVIEWED 737046 NINJ1 ninjurin 1 The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from primary cultured dorsal root ganglion neurons.[supplied by OMIM, Aug 2009] 9 9 9 q22 66325478 66338278 - 95883771 95896570 - 93121489 93134288 - 729059;1580863;6480464 8780658 12477932;14702039;15164053;15464245;15489334;17825431;17893696;18504448;18676680;19170196;19625176;19692168;21988832;22162058;22326538;23563609;9261151;9465296 4814 Q92982 ABBA01018604;AF029251;AK094530;AL451065;AMYH02021234;BC000298;BC004440;BC019336;BC048212;BT007164;CH471089;NM_004148;U72661;U91512 AAB17560;AAC14593;AAC39574;AAH00298;AAH04440;AAH19336;AAH48212;AAP35828;EAW62856;NP_004139;Q92982 Hs.494457 2109559;2159216;5019046 G43535;NINJ1_8505;RH41811 NIN1 OTTHUMP00000021670;nerve injury-induced protein 1;nerve injury-induced protein-1;ninjurin;ninjurin-1 APPROVED protein-coding ENSG00000131669 HGNC:7824 03639 602062 VALIDATED 732109 NIP7 NIP7, nucleolar pre-rRNA processing protein ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN ribosome assembly (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; atrazine; cobalt dichloride 16 16 16 q22.1 53888086 53891549 + 69373415 69377014 + 69339512 69343111 + 6480464 10810093;11042152;12417987;12429849;12477932;14660641;14702039;15489334;15522784;15635413;16189514;16341674;17643419;19322201;20798176;21139048;21890473;21906983;22195017;23000965;23166591;23667531 51388 J3QLW7;J3QRD6;J3QRR4;Q9Y221 AB062398;AB062479;AB112439;ABBA01025527;AC026464;AF085360;AF132971;AF161528;AK001158;AK315355;AMYH02032277;AW001672;BC015941;BM754629;CH471092;DB453898;DR423435;HH770973;NG_009013;NM_001199434;NM_016101 AAD27746;AAD40195;AAF29143;AAH15941;ABM82037;ABM85217;BAB93485;BAB93504;BAD05056;BAG37751;BAG50861;CBX86193;EAW83270;EAW83271;NP_001186363;NP_057185;Q9Y221 Hs.585728 1675425;1690234;1697840 RH102445;RH92410;RH94251 CGI-37;FLJ10296;HSPC031;KD93 60S ribosome subunit biogenesis protein NIP7 homolog;OTTHUMP00000174889;nuclear import 7 homolog;saccharomyces cerevisiae nip7p homolog APPROVED protein-coding ENSG00000132603 HGNC:24328 16709 VALIDATED 5133161 NIPA2P2 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2 3 3 3 p12.3 75070088 75071627 + 75132871 75134410 + 75083720 75085259 + 100130204 ABBA01030983;AC119043;AC130003;AMYH02007082;NG_021276 pseudo HGNC:42042 INFERRED 1352493 NINJ2 ninjurin 2 The protein encoded by this gene belongs to the ninjurin (for nerve injury induced) family. It is a cell surface adhesion protein that is upregulated in Schwann cells surrounding the distal segment of injured nerve, and promotes neurite outgrowth, thus may have a role in nerve regeneration after nerve injury. [provided by RefSeq, Oct 2011] 12 12 12 p13 2279829 2378935 - 673462 772755 - 564296 663589 - 724399;1580863;6480464;8554872 10627596 12477932;15489334;17081983;17192395;19369658;20410525;20957003;21376321;21674003;21722921;22297388;22429733;22795341 4815 B4DNS9;F5H3L1;F8WBZ3;Q9NZG7 ABBA01048841;ABBA01048842;ABBA01048843;ABBA01048844;ABBA01048845;ABBA01048846;ABBA01048847;AC006205;AC021054;AF205633;AK296012;AK315995;AMYH02025855;AMYH02025856;BC057766;BI597990;BM128205;CB995632;CD695373;CH471116;NM_001294345;NM_001294346;NM_016533;R06312;XM_005253689;XM_006718984 AAF42828;AAH57766;AAI48621;AAI53187;BAG58783;BAH14366;EAW88959;EAW88960;NP_001281274;NP_001281275;NP_057617;Q9NZG7;XP_005253746;XP_006719047 Hs.655804;Hs.656450 1673885;1687904;1693850;1757079;2129153 D12S122;D12S2119;G42614;RH91262;SHGC-144469 FLJ56349 OTTHUMP00000115360;nerve injury-induced protein 2;ninjurin-2 APPROVED protein-coding ENSG00000171840 HGNC:7825 09530 607297 VALIDATED 5133101 NIPA2P1 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1 7 7 7 q21.13 85654065 85655260 - 90949314 90950509 - 91319999 91321194 - 9847074 100132321 ABBA01045822;ABBA01045823;AC095042;AMYH02016248;CH236949;NG_021278 pseudo HGNC:42041 INFERRED 5133144 NIPA2P4 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4 8 8 8 78534353 78535451 - 82529382 82530480 - 81617147 81618245 - 100421776 ABBA01004052;AC090255;AMYH02018315;NG_026045 pseudo HGNC:42044 INFERRED 6480927 NIPA2P5 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5 13 13 79664900 79665309 + 79090765 79091174 + 100874488 ABBA01021685;AL161892;AMYH02028337;NG_032396 pseudo HGNC:42045 INFERRED 1348761 NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2 This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010] 15 15 15 q11.2 1345448 1375128 + 23004684 23034427 - 22838641 22868384 + 1580863;6480464 12477932;14508708;14702039;15067324;15317751;15489334;16344560;16982806;19328872;19940067;21139048;22367439;24250222;8619474 81614 H0YMQ7;Q8N8Q9 ABBA01040247;ABBA01040248;ABBA01040249;ABBA01040250;ABBA01040251;AC011767;AK096305;AK300843;AK313584;AMYH02030035;AY732242;BC000957;BC011775;BK001120;BM544162;CH471258;DA082125;NG_021303;NM_001008860;NM_001008892;NM_001008894;NM_001184888;NM_001184889;NM_030922;R56244;U90904;XM_005272546;XM_005272547;XM_005272548;XM_005272549;XM_005272550;XM_005272552;XM_005272553;XM_006720364;XM_006720365;XM_006720366;XM_006720367;XM_006720368 AAH00957;AAH11775;AAU34000;ADZ15723;BAC04757;BAG62494;DAA01509;EAW65552;EAW65553;EAW65554;NP_001008860;NP_001008892;NP_001008894;NP_001171817;NP_001171818;NP_112184;Q8N8Q9;XP_005272603;XP_005272604;XP_005272605;XP_005272606;XP_005272607;XP_005272609;XP_005272610;XP_006720427;XP_006720428;XP_006720429;XP_006720430;XP_006720431 Hs.591003 1682143;1685319;1685668;1694760;1736506;2176035;2181976;2219180 D15S714E;G43583;HSC15C102;NIB1540;NIPA2__6056;RH64908;RH91787;RH94274 MGC5466 OTTHUMP00000159354;magnesium transporter NIPA2;non-imprinted in Prader-Willi/Angelman syndrome region protein 2 APPROVED protein-coding ENSG00000140157 HGNC:17044 16290 608146 REVIEWED 1315140 NIN ninein (GSK3B interacting protein) This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008] 14 14 14 q22.1 31053486 31164870 - 51186481 51297839 - 50719763 50831121 - 6480464;8699517;7240710;8554872 10997877;11004522;11162463;11956314;12168954;12403812;12477932;12927815;14503922;14702039;15048123;15087377;15147888;15190203;15489334;15784680;16154161;16254247;17102634;17139249;17383637;17698918;18331714;19322201;19615732;20056645;20125193;20301772;20379614;20508983;21139048;21325031;21667027;23000965;23047184;23665482;24255178;24347629;8889548;9506584 51199 C9J066;E9PJH9;E9PN67;H0YDJ4;H7C162;H9KV85;Q5XUU0;Q8N4C6;R4GN85 AA742651;AB046785;ABBA01018142;ABBA01018143;ABBA01018144;AF186776;AF212162;AF223937;AF223938;AF223939;AF302773;AK025652;AK026083;AK027054;AL133485;AL359571;AL606834;AMYH02029169;AW505195;AY027794;AY027795;AY027796;AY736182;AY736183;BC034708;BC065521;BC090932;BM721510;CB241926;CH471078;CR993064;NG_032968;NM_016350;NM_020921;NM_182944;NM_182946;XM_005267735;XM_005267736;XM_005267737;XM_006720160;XM_006720161 AAF23015;AAG17027;AAG33512;AAH34708;AAH65521;AAH90932;AAK00628;AAK00629;AAK00630;AAK27375;AAK27376;AAK27377;AAU86898;AAU86899;BAB13391;BAB15640;EAW65692;EAW65693;EAW65694;EAW65695;EAW65696;EAW65697;EAW65698;EAW65699;EAW65700;EAW65701;NP_057434;NP_065972;NP_891989;NP_891991;Q8N4C6;XP_005267792;XP_005267793;XP_005267794;XP_006720223;XP_006720224 Hs.310429;Hs.569387 1663331;1679441;1688630;1700306;1701248;1725941;1776306;1982994;2109561;2120812;2154599 G62247;NIN_9684;REN62397;RH103773;RH104252;RH44954;RH65693;RH93653;RH98864;SHGC-32079;STS-R14959 KIAA1565;SCKL7 GSK3B-interacting protein;OTTHUMP00000028272;OTTHUMP00000195017;OTTHUMP00000195510;OTTHUMP00000236249;OTTHUMP00000236253;OTTHUMP00000236255;glycogen synthase kinase 3 beta-interacting protein;hNinein;ninein;ninein centrosomal protein APPROVED protein-coding ENSG00000100503 HGNC:14906 09785 608684;614851 REVIEWED 2306343 NIPAL4 NIPA-like domain containing 4 This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010] 5 5 5 q33.3 152913590 152928293 + 156887027 156901730 + 157460019 157474722 + 6480464;7240710;8554872;8699517 12477932;15317751;16344560;17557927;19197536;19423540;20016120;20301593;20406964;20438785;22098531;22258272;22622417;23290633;8619474;9110174 348938 H0YC31;Q0D2K0 ABBA01044270;AC008676;AF131815;AK026158;AK296972;AK308830;AK309242;AMYH02012553;BC105708;BC105709;BC105710;DB153698;DC348015;NG_016626;NM_001099287;NM_001172292 AAI05709;AAI05710;AAI05711;AAI60182;BAG59515;NP_001092757;NP_001165763;Q0D2K0 Hs.4285 1851676 A004U21 ARCI6 ICHTHYIN;ICHYN;NIPA-like protein 4;OTTHUMP00000224097;OTTHUMP00000224098;magnesium transporter NIPA4;non-imprinted in Prader-Willi/Angelman syndrome region protein 4;nonimprinted in Prader-Willi/Angelman syndrome region protein 4 APPROVED protein-coding ENSG00000172548 HGNC:28018 609383;612281 REVIEWED 1602833 NIPAL1 NIPA-like domain containing 1 ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (inferred); INVOLVED IN magnesium ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH all-trans-retinoic acid; thapsigargin; trichostatin A 4 4 4 p12 48467642 48487933 + 48018791 48039084 + 48016774 48037067 + 6480464;8554872 12477932;14702039;15489334 152519 D6RIY2;H0Y8W0;Q6NVV3 ABBA01014340;AC096749;AK095299;AL832997;AMYH02009162;BC067881;CH471069;CR749484;NM_207330 AAH67881;BAG53022;CAH18311;EAW93050;NP_997213;Q6NVV3 Hs.134190 1690892;5015619 D11S3114;SHGC-67282 DKFZp686A06115;NPAL1 NIPA-like protein 1;OTTHUMP00000158786;OTTHUMP00000223078;magnesium transporter NIPA3;non-imprinted in Prader-Willi/Angelman syndrome region protein 3 protein-coding HGNC:27194 14096 PROVISIONAL 9586206 NIPBL-AS1 NIPBL antisense RNA 1 (head to head) 5 5 5 p13.2 36751455 36763725 - 36871463 36876796 - 36871361 36876694 - 14702039;24007600 646719 ABBA01024176;AC026741;AI800212;AK000901;AMYH02011171;NR_046262 Hs.355684 NIPBL-AS ncrna HGNC:51293 VALIDATED 1605636 NIPAL2 NIPA-like domain containing 2 ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (inferred); INVOLVED IN magnesium ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 8 8 8 q22.2 95390258 95492501 - 99202054 99307444 - 98189826 98295216 - 6480464;8554872 12477932;14702039;15317751;23400010 79815 Q9H841 ABBA01037536;ABBA01037537;AK024017;AK025015;AK302414;AMYH02018481;AMYH02018482;AMYH02018483;AP003438;AP003439;BC132687;BC144055;CH471060;JA738643;KC877281;NM_024759;XM_005251069;XM_005251070;XM_005251071 AAI32688;AAI44056;BAB14779;BAG63722;CCF76974;EAW91777;EAW91778;EAW91779;NP_079035;Q9H841;XP_005251126;XP_005251127;XP_005251128 Hs.309489 1336836;2148571;7186788 D8S1452;D8S506 FLJ13955;NPAL2 NIPA-like protein 2;OTTHUMP00000227185;OTTHUMP00000227186 protein-coding HGNC:25854 08591 PROVISIONAL 1352624 NIPSNAP3A nipsnap homolog 3A (C. elegans) NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008] 9 9 9 q31.1 78015286 78027720 + 107509969 107522403 + 104747688 104760122 + 737633;6480464 12477932 12427096;14702039;15177564;15489334;16169070;17207965;20877624;21890473;21900206;21988832;23505323;24483146;24654937 25934 Q9UFN0 ABBA01042831;AF161417;AK024015;AK301410;AL117557;AL359846;AMYH02021383;AMYH02021384;BC005935;BC045830;CH471105;NM_015469 AAF28977;AAH05935;ADQ33218;BAB14777;BAG62943;CAB55992;EAW58990;NP_056284;Q9UFN0 Hs.530275 DKFZp564D177;FLJ13953;HSPC299;MGC14553;NIPSNAP4;TASSC OTTHUMP00000021828;protein NipSnap homolog 3A;protein NipSnap homolog 4;target for Salmonella secreted protein C APPROVED protein-coding ENSG00000136783 HGNC:23619 16399 608871 PROVISIONAL 1603619 NIPAL3 NIPA-like domain containing 3 ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (inferred); INVOLVED IN magnesium ion transport (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH cyclosporin A; ethyl methanesulfonate; methyl methanesulfonate 1 1 1 p36.12-p35.1 23069398 23126647 + 24742245 24799473 + 24415750 24472983 + 6480464 12477932;15489334;16344560;16710414;19322201;19738379;8619474;9110174 57185 A6NN97;H0Y4I9;Q6P499 ABBA01059904;ABBA01059905;AF131814;AK312433;AL031431;AMYH02000519;BC001265;BC012492;BC063583;BX538110;BX640883;CH471134;DA223169;NM_020448;U90918;XM_005245947;XM_005245948;XM_006710780 AAH01265;AAH12492;AAH63583;BAG35342;CAD98023;CAE45938;EAW95130;NP_065181;Q6P499;XP_005246004;XP_005246005;XP_006710843 Hs.523442 1649542;1651923;1661922;1670853;1691824;1708426;2151758;2164992;2171796;5016851 1824;A008W14;AL033965;D1S3513;RH69442;RH80031;SGC30617;SHGC-74404;SHGC-74408;SHGC-83510 DJ462O23.2;DKFZp686E22155;NPAL3;RP3-462O23.3 NIPA-like protein 3;OTTHUMP00000003338;OTTHUMP00000003341;OTTHUMP00000179078 protein-coding ENSG00000001461 HGNC:25233 13149 VALIDATED 1348563 NIPSNAP3B nipsnap homolog 3B (C. elegans) NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008] 9 9 9 q31.1 78031768 78041600 + 107526022 107540045 + 104763741 104777764 + 737633;6480464;8554872 12477932 11352567;14702039;15177564;15489334;17207965;18187620;20877624;23251661;23505323 55335 F2Z3L7;Q9BS92 ABBA01042831;AF287262;AK002137;AK310397;AL359846;AMYH02021384;BC005202;BC017914;BX647652;CH471105;NM_018376;XR_428532 AAH05202;AAH17914;AAK43527;ADQ31882;BAA92101;EAW58991;NP_060846;Q9BS92 Hs.429294 5017843 NIPSNAP3A FLJ11275;NIPSNAP3;SNAP1 OTTHUMP00000021829;OTTHUMP00000021830;protein NipSnap homolog 3B APPROVED protein-coding ENSG00000165028 HGNC:23641 16400 608872 PROVISIONAL 1346727 NIT2 nitrilase family, member 2 ENCODES a protein that exhibits omega-amidase activity; INVOLVED IN asparagine metabolic process; glutamine metabolic process; oxaloacetate metabolic process; PARTICIPATES IN alanine, aspartate and glutamate metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN centrosome; cytoplasm; extracellular vesicular exosome; INTERACTS WITH (+)-catechin; atrazine; isotretinoin 3 3 3 q12.2 98444355 98465336 + 100053483 100075844 + 100334718 100355634 + 737633;6480464;6907045;8554872 12477932 10959838;16341674;17488281;18029348;19056867;21139048;21963094;22674578;22939629;24816145;8125298 56954 F8WF58;F8WF70;H7C579;Q9NQR4;V9HW91 ABBA01061789;AC093003;AF260334;AF284574;AK225979;AK294010;AK313704;AMYH02007303;BC020620;BC107890;BM748852;CH471052;DB466042;FJ224326;NM_020202 AAF87103;AAG44665;AAH20620;AAI07891;ABM84061;ABM87415;ACI46018;BAG36450;BAG57372;EAW79824;EAW79825;NP_064587;Q9NQR4 Hs.439152 1773909;2160634 SHGC-77149;SHGC-77154 HEL-S-8a;MGC111199 Nit protein 2;OTTHUMP00000213986;epididymis secretory sperm binding protein Li 8a;nitrilase homolog 2;omega-amidase NIT2 protein-coding HGNC:29878 17634 VALIDATED 1349751 NIT1 nitrilase 1 This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 1 1 1 q21-q22 134155024 134162397 + 161087862 161095235 + 161118072 161125445 + 1302481;6480464 9671749 12477932;15231748;15489334;16169070;16712791;16713569;16864578;18029348;20877624;21139048;21906983;22082156 4817 B7Z410;Q86X76 ABBA01016599;AF069984;AF069987;AI277603;AK296606;AK313323;AL591806;AMYH02002031;BC046149;BI752623;BQ002524;BX416745;CB111935;CH471121;CR541814;CR541846;DC302367;NM_001185092;NM_001185093;NM_001185094;NM_005600;XM_005245214;XM_005245215;XM_005245216;XM_006711341 AAC39901;AAC39907;AAH46149;AAX36541;AAX36975;BAG36128;BAH12396;CAG46613;CAG46644;EAW52654;EAW52655;EAW52656;EAW52657;NP_001172021;NP_001172022;NP_001172023;NP_005591;Q86X76;XP_005245271;XP_005245272;XP_005245273;XP_006711404 Hs.146406 1793346;1793348;2139804;2174889;5014656 D1S3564;PMC21147P1;PMC21147P2;STS-AA028117;WI-12338 MGC57670 OTTHUMP00000029696;OTTHUMP00000029697;nitrilase homolog 1 APPROVED protein-coding ENSG00000158793 HGNC:7828 07056 604618 REVIEWED 1604032 NIPBL Nipped-B homolog (Drosophila) This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 p13.2 36763790 36952889 + 36876861 37065926 + 36876759 37065824 + 6480464;7240710;8554872;8699517 12477932;14702039;15146185;15146186;15146197;15302935;1531830;15318302;15489334;15591270;15635413;15882967;16100726;16169070;16236812;16565220;16682347;16802858;16964243;17081983;17106445;17264868;17468178;17577209;17661813;18299561;18854353;19052029;19056867;19242925;19468298;19471022;20124326;20301283;20301533;20358602;20360068;20431927;20562864;20634891;20720539;20727427;20824775;21139048;21211577;21784059;21934712;22094256;22174317;22241092;22353942;22586326;22857006;22939629;22965847;23251661;23254390;23505322;23760082;23912250;24136230;24145515;24189319;24332808;24457600;8291537 25836 H0Y8M3;Q6KC79 AA508213;ABBA01024176;AC008902;AC026741;AJ627032;AJ640137;AK002065;AK022659;AK023416;AK023710;AK126804;AK290347;AL137726;AMYH02011171;AMYH02011172;AMYH02011173;AY726600;BC032711;BC033847;BC063859;BC131490;BC146821;BK005151;BQ723324;BX538177;BX538178;BX640644;CH471119;CN369580;KC876970;KC876971;NG_006987;NM_015384;NM_133433;XM_005248280;XM_005248282;XM_005248283;XM_006714467;XM_006714468 AAH33847;AAI31491;AAI46822;BAC86701;BAF83036;CAD98051;CAD98052;CAE45790;CAF25290;CAG26691;DAA05331;EAW55948;EAW55949;EAW55950;NP_056199;NP_597677;Q6KC79;XP_005248337;XP_005248339;XP_005248340;XP_006714530;XP_006714531 Hs.481927 1670855;1674733;1678219;1725273;1781100;2109563;2127829;2130771;2191435;5015404;7187989 D5S1878;L17705;MARC_21845-21846:1025102921:1;NIPBL_7249;RH119355;RH47582;RH65882;RH76750;SGC44479;WI-18161 CDLS;CDLS1;DKFZp434L1319;FLJ11203;FLJ12597;FLJ13354;FLJ13648;FLJ44854;IDN3;IDN3-B;Scc2 OTTHUMP00000116005;OTTHUMP00000221091;SCC2 homolog;delangin;nipped-B-like protein;sister chromatid cohesion 2 homolog APPROVED protein-coding ENSG00000164190 HGNC:28862 10560 122470;608667 REVIEWED 4145484 NKAIN1P1 Na+/K+ transporting ATPase interacting 1 pseudogene 1 1 1 q21 148863847 148865185 - 143487762 143489098 + 100462647 AC239859;AL592492;NG_021262 1684290;2175800;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;RH69216;SHGC-32277 FLJ39739 pseudo HGNC:38593 INFERRED 1349938 NKAIN2 Na+/K+ transporting ATPase interacting 2 This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] 6 6 6 q21 124869958 125891802 + 124124991 125146786 + 123803846 124825640 + 6480464;8554872 11979551;12477932;14574404;14702039;15908570;16344560;17606467;19913121;20379614;20628086;20634892;23534349;23535033;23894747;24024966;24205241 154215 F5GY48;F5H695;Q5VXU1 AB070452;ABBA01025960;ABBA01025961;ABBA01025962;ABBA01025963;ABBA01025964;ABBA01025965;ABBA01025966;ABBA01025967;ABBA01025968;AK055326;AK308927;AK309385;AK309407;AK309802;AK310763;AK315886;AL035692;AL109842;AL121968;AL136081;AL136107;AL136224;AL354936;AL356278;AL356605;AL450343;AL451135;AL451183;AL512376;AMYH02014418;AMYH02014419;AMYH02014420;AMYH02014421;AMYH02014422;AMYH02014423;AMYH02014424;AMYH02014425;BC035062;CH471051;DA220592;DB174077;DB503487;KF458265;KF458269;KF458273;KF458274;KF510268;NG_021365;NM_001040214;NM_001300737;NM_001300738;NM_001300740;NM_153355;XM_005266833;XM_005266834;XR_245508;XR_245509;XR_427963 AAH35062;BAB85477;BAF98777;BAG51502;EAW48156;NP_001035304;NP_001287666;NP_001287667;NP_001287669;NP_699186;Q5VXU1;XP_005266890;XP_005266891 Hs.656604 1339768;1339824;1649134;1704050;1705222;1706074;1706158;1726739;1726865;1750013;1751755;1754873;1755693;1758909;1759669;1769158;1778306;1785862;1849134;2128501;2134365;2145666;2161835;2167012;2170213;2178108;2185934;5124164 AFM199zh10;D6S1639;D6S408;D6S988;G17066;G62675;G62757;GDB:314425;RH15825;RH15888;RH41840;RH63718;RH66670;RH78368;SGC32046;SHGC-105740;SHGC-111710;SHGC-112081;SHGC-141801;SHGC-142534;SHGC-150790;SHGC-1831;SHGC-53538;SHGC-77850;SHGC-78097;SHGC-80073;SHGC-80603;WI-19339 FAM77B;MGC41924;NKAIP2;TCBA;TCBA1 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 2;OTTHUMP00000017129;T-cell lymphoma breakpoint-associated target protein 1;sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 APPROVED protein-coding ENSG00000188580 HGNC:16443 18168 609758 REVIEWED 1606659 NKAIN3 Na+/K+ transporting ATPase interacting 3 NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009] 8 8 8 q12.3 59151524 59893831 + 63161501 63912211 + 62248942 62999652 + 6480464;8554872 14702039;17606467;20379614;22437554;23568457;24024966;24623842 286183 B4DSD2;E5RIL3;Q8N8D7 ABBA01041831;ABBA01041832;ABBA01041833;AC018861;AC023095;AC068937;AC087358;AC090577;AC091554;AC120042;AK096949;AK299689;AMYH02018066;AMYH02018067;AMYH02018068;AMYH02018069;CH471068;NM_173688;XM_005251216;XM_005251217;XR_242456 AAI46367;BAC04909;BAG61594;EAW86858;EAW86859;NP_775959;Q8N8D7;XP_005251273;XP_005251274 Hs.654662 1337942;1672701;1673162;1719973;1730805;1752035;1773442;1786776;2131077;2140831;2142374 D8S1616;D8S1696;D8S303;D8S426;G19221;G32121;G32129;RH123965;SHGC-105971;SHGC-155641;SHGC-57147 FAM77D;FLJ39630 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 3;OTTHUMP00000226539;family with sequence similarity 77, member D;sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 APPROVED protein-coding HGNC:26829 08261 612872 PROVISIONAL 5133163 NIPA2P3 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3 21 21 21 q21.1 6162498 6173520 + 20993066 21004088 + 19620752 19631774 + 100128057 ABBA01057147;AMYH02037581;AP000403;NG_021277 pseudo HGNC:42043 INFERRED 1314067 NKAIN4 Na+/K+ transporting ATPase interacting 4 NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009] 20 20 20 q13.33 58549620 58563376 - 61872136 61885892 - 63240784 63254540 - 6480464 11780052;12477932;15489334;17207965;17606467;8125298;8889548 128414 A6NNM2;B3KWY5;J3JS66;J9JIE8;Q8IVV8 ABBA01021393;AK126246;AK225765;AK308958;AL121827;AMYH02037451;AMYH02037452;BC041812;BG708360;BM673598;CH471077;NM_152864;XM_005260192;XM_005260194 AAH41812;ADQ32491;BAG54297;EAW75297;EAW75298;EAW75299;EAW75300;EAW75301;NP_690603;Q8IVV8;XP_005260249;XP_005260251 Hs.46627 1681273 RH45904 C20orf58;FAM77A;bA261N11.2 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 4;OTTHUMP00000031539;OTTHUMP00000031540;OTTHUMP00000031542;sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4 APPROVED protein-coding ENSG00000101198 HGNC:16191 12776 612873 VALIDATED 1323244 NKAPL NFKB activating protein-like INTERACTS WITH 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog); aflatoxin B1 (ortholog) 6 6 6 p22.1 29833544 29835182 + 28227075 28228736 + 28259297 28260958 + 6480464 12477932;14574404;15489334;17207965;21145461;22037552;22990118;23223422;23503679;24816145 222698 Q5M9Q1 ABBA01038015;AF085870;AI240405;AL390721;AMYH02013393;BC038240;BC101681;BC101685;CH471081;DB471905;NM_001007531 AAH38240;AAI01682;AAI01686;ADQ31981;EAX03145;EAX03146;NP_001007532;Q5M9Q1 Hs.48787 1665305;5493225 UniSTS:485379;WI-15159 C6orf194;MGC126730;MGC126734;bA424I5.1 NKAP-like protein;OTTHUMP00000016201 protein-coding ENSG00000189134 HGNC:21584 16664 VALIDATED 1350809 NKAPP1 NFKB activating protein pseudogene 1 X X X q24 119835894 119844707 - 119370305 119379122 - 120236452 120245267 - 12477932;14702039;15489334;16344560 158801 Q8N9T2 ABBA01049617;ABBA01049618;ABBA01049619;AC002086;AC240549;AK093895;AMYH02040358;BC022359;BC113730;BC113732;BX537594;CK905715;DB004517;NR_027131 BAC04246;CAD97792;Q8N9T2 Hs.442518 2185742;5015404 AL021883;L17705 CXorf42;DKFZp686B1195;FLJ13381;FLJ36576;MGC142290;MGC142292 APPROVED pseudo ENSG00000233382 HGNC:26706 06560 VALIDATED 1606506 NKAP NFKB activating protein This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010] X X X q24 119513642 119532364 - 119059013 119077735 - 119925050 119943772 - 6480464 12477932;14550261;14702039;15302935;15345747;15489334;16097034;16169070;16189514;17081983;17207965;18029348;18804983;19409814;19471022;20360068;21145461;21624937;22365833;23455922;23602568;24816145 79576 Q05D22;Q8N5F7 ABBA01036610;ABBA01036611;ABBA01036612;AC002477;AK026279;AK094446;AL832118;AMYH02040348;AY388958;BC000940;BC012770;BC015354;BC016783;BC018968;BC032442;BC071686;CH471161;NG_021260;NM_024528 AAH15354;AAH16783;AAH18968;AAH32442;AAH71686;AAQ90402;ADQ32702;BAB15428;EAW89838;NP_078804;Q8N5F7 Hs.522771 1740653;1774574;1853717;5016596;5037552 D20S1001;D8S2279;GDB:631802;RH69561;RH77706 FLJ22626 NF-kappa-B-activating protein;NF-kappaB activating protein;OTTHUMP00000023926 APPROVED protein-coding ENSG00000101882 HGNC:29873 06666 300766 REVIEWED 1315855 NISCH nischarin This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013] 3 3 3 p21.1 52468769 52506327 + 52489524 52527088 + 52455508 52493072 + 1581128;6480464;8554872 12021582 10231032;10882231;11121431;11912194;12477932;12865160;12868002;14702039;15028619;15028621;15028622;15028623;15475348;16598778;18561481;19913121;19946888;20628086;20935629;21139048;21145461;21706016;21890473;21906983;21917605;21926972;21963094;22053931;22483786;23572524;23974872;24639526;25036637;9851558 11188 C9J715;Q9Y2I1 AB023192;ABBA01024507;ABBA01024508;AC006208;AF058290;AF082516;AI889216;AK001505;AK027331;AK027428;AK075000;AK097732;AK291398;AK297657;AK302441;AK315001;AL117432;AL703940;AMYH02006802;AMYH02006803;BC038102;BC050552;BC054494;BC056900;BU177208;CH471055;DB496030;NG_033112;NM_001276293;NM_001276294;NM_007184;XM_005264839;XM_006712955 AAC33104;AAC33321;AAH38102;AAH54494;AAH56900;BAA76819;BAF84087;BAG51306;BAG51321;BAG60023;BAG63739;CAB55920;EAW65228;EAW65229;EAW65230;EAW65231;NP_001263222;NP_001263223;NP_009115;Q9Y2I1;XP_005264896;XP_006713018 Hs.435290 1688929;1855143;2109565;2156984;2163121;2191737 MARC_5975-5976:997299498:1;NISCH_9238;RH17807;RH91377;SHGC-32372;WI-18469 FLJ14425;FLJ40413;FLJ90519;I-1;IR1;IRAS;KIAA0975 I-1 receptor candidate protein;I1R candidate protein;OTTHUMP00000213104;OTTHUMP00000213105;hIRAS;imidazoline receptor 1;imidazoline receptor antisera selected;imidazoline receptor antisera-selected protein;imidazoline receptor candidate;imidazoline-1 receptor candidate protein protein-coding ENSG00000010322 HGNC:18006 11391 615507 REVIEWED 1318403 NKIRAS1 NFKB inhibitor interacting Ras-like 1 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN GTP catabolic process (inferred); small GTPase mediated signal transduction (inferred); FOUND IN cytoplasm (inferred); membrane (inferred); INTERACTS WITH 2-methylcholine; 5-fluorouracil; copper(2+) sulfate 3 3 3 p24.2 23869757 23894727 - 23933552 23958537 - 23892061 23917052 - 6480464 10657303;12477932;12672800;14702039;15024091;15489334;15761153;18434448;20693965;21139048;21302000;21832049;21906983;21963094;21988832;23156677 28512 G5E9P3;Q9NYS0 ABBA01025039;AC124914;AF229839;AK027749;AMYH02006404;AX405750;BC012145;BC066940;BG713995;CH471055;DQ314881;NM_020345;XM_005265076;XM_005265077;XM_005265078 AAF34998;AAH12145;AAH66940;ABC40740;ABW03916;BAB55341;CAD34857;EAW64335;EAW64336;NP_065078;Q9NYS0;XP_005265133;XP_005265134;XP_005265135 Hs.173202 1340630;1772068;2109567;2177989;2183061 D10S595;NKIRAS1_9559;SHGC-76773;SHGC-76774;WI-16381 KBRAS1;kappaB-Ras1 I-kappa-B-interacting Ras-like protein 1;NF-kappa-B inhibitor-interacting Ras-like protein 1;NFKB inhibitor interacting Ras-like protein 1;OTTHUMP00000208334;OTTHUMP00000208336;OTTHUMP00000208337;OTTHUMP00000208338;OTTHUMP00000208339;kappa B-Ras protein 1;kappa B-ras 1 protein-coding ENSG00000197885 HGNC:17899 06841 604496 VALIDATED 1347836 NKG7 natural killer cell granule protein 7 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); INTERACTS WITH acetylsalicylic acid; all-trans-retinoic acid; diazinon 19 19 19 q13.41 48925955 48927041 - 51874874 51875976 - 51371620 51372722 - 1580863;6480464;8554872 12477932;15489334;21988832;7510105;8458737 4818 M0QXT6;M0R0D6;M0R3G3;Q16617 ABBA01068274;AC008750;AF305941;AI313472;AMYH02036379;BC015759;CH471135;NM_005601;S69115;U09608;XM_005258955;XM_006723228 AAA18209;AAB30078;AAG32329;AAH15759;ABM86868;ABW03870;EAW72006;EAW72007;EAW72008;NP_005592;Q16617;XP_005259012;XP_006723291 Hs.10306 2146351;5094918 NKG7;SHGC-35527 GIG1;GMP-17;p15-TIA-1 G-CSF-induced gene 1 protein;GIG-1 protein;granule membrane protein 17;granule membrane protein of 17 kDa;natural killer cell group 7 sequence;natural killer cell protein 7 APPROVED protein-coding ENSG00000105374 HGNC:7830 16188 606008 VALIDATED 1606507 NKAIN1 Na+/K+ transporting ATPase interacting 1 NKAIN1 is a member of a family of mammalian proteins with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009] 1 1 1 p35.2 29909011 29969229 - 31652592 31712734 - 31179745 31239887 - 6480464 12477932;14702039;15489334;16710414;17606467;23455491 79570 H0YDA0;Q4KMZ8;R4GNE2 ABBA01023475;AC114495;AI884789;AK022712;AK298874;AK299507;AL832547;AMYH02000676;AMYH02000677;AMYH02000678;BC096707;BC098173;BC098249;BC131518;CH471059;DB499136;NM_024522 AAH96707;AAH98173;AAH98249;AAI31519;BAB14196;BAH12891;BAH13055;EAX07628;EAX07629;NP_078798;Q4KMZ8 Hs.470259 1699096;1764071 RH103124;SHGC-147726 FAM77C;FLJ12650 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 1;OTTHUMP00000003887;OTTHUMP00000228415;family with sequence similarity 77, member C;sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 APPROVED protein-coding ENSG00000084628 HGNC:25743 07786 612871 VALIDATED 1323472 NKPD1 NTPase, KAP family P-loop domain containing 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); potassium dichromate (ortholog); trimellitic anhydride (ortholog) 19 19 19 q13.32 42457268 42467668 - 45653008 45663408 - 45149750 45160150 - 6480464 12477932;14702039;15935074 284353 J3KNK3;Q17RQ9 ABBA01040912;AC005757;AMYH02036192;BC117228;BC143792;EG328190;EG328439;HG510865;NM_198478 AAI17229;AAI43793;ADR83335;NP_940880;Q17RQ9 Hs.299256 1687483;1690502;1693944;2122150;2177060 D19S859;G42666;RH98737;SHGC-1350;STS-AA009699 AC005757.7;FLJ33600 NTPase KAP family P-loop domain-containing protein 1 protein-coding ENSG00000179846 HGNC:24739 11393 VALIDATED 1318289 NKD1 naked cuticle homolog 1 (Drosophila) In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003] 16 16 16 q12.1 35097548 35183963 + 50582241 50674771 + 50548330 50640860 + 6480464;6907045 11274398;11356022;11604995;11752446;12477932;14702039;15687260;16567647;19956716;21599923;22412388 85407 Q969G9 AB062886;ABBA01000868;ABBA01000869;ABBA01000870;ABBA01000871;AC007608;AF289584;AF358135;AK000276;AK021701;AK023784;AK314930;AMYH02032014;AMYH02032015;AY061883;BC051288;CH471092;NM_033119;XM_005256211 AAH51288;AAK57484;AAL32374;AAL55768;BAB70500;BAG37436;EAW82761;NP_149110;Q969G9;XP_005256268 Hs.187578 1336316;1341343;1693806;1794880;2123979;5124154 D16S3035;D16S541;G10577;PMC64968P1;RH98401;SHGC-58948 FLJ11639;FLJ13722;FLJ20269;Naked1;hNkd;hNkd1;naked-1 Dvl-binding protein;OTTHUMP00000164221;naked cuticle-1;protein naked cuticle homolog 1 APPROVED protein-coding ENSG00000140807 HGNC:17045 08482 607851 VALIDATED 1345555 NKS1 natural killer cell susceptibility 1 1979875 4819 HGNC:7832 272370 1343355 NKRF NFKB repressing factor This gene encodes a transcriptional repressor that interacts with specific negative regulatory elements to mediate transcriptional repression of certain nuclear factor kappa B responsive genes. The protein localizes predominantly to the nucleolus with a small fraction found in the nucleoplasm and cytoplasm. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] X X X q24 119177007 119194549 - 118722300 118739846 - 119588337 119605883 - 1580863;6480464 10562553;12381793;12429849;12477932;14744032;15226370;15489334;16107696;16147992;17186550;17592041;18025206;18029348;18560378;19471022;19542452;19596686;20020773;21139048;21145461;21300069;21693764;21900206;21903422;21942715;21963094;22441735;22446626;22586326;22944692;22990118;23125841;24223729;24457600;24778252;24816145;9224902;9442378 55922 A3F768;A3F769;O15226 AA845622;ABBA01036656;ABBA01036657;AC004913;AJ011812;AL539002;AMYH02040334;AMYH02040335;AY208891;BC040379;BC047878;BC068514;CH471161;EF158333;EF165090;EF165091;EF165092;EF165093;EF165094;EF165095;EF216688;EF216689;NG_016800;NM_001173487;NM_001173488;NM_017544;XM_005262443;Y07707 AAH40379;AAH47878;AAH68514;AAP43025;ABM16955;ABM55375;ABM55376;ABM55377;ABM55378;ABM55379;ABM55380;ABN11234;ABN11235;CAA68976;CAB56459;EAW89859;EAW89860;NP_001166958;NP_001166959;NP_060014;O15226;XP_005262500 Hs.437084 2120271 DXS7301 ITBA4;NRF NF-kappa-B-repressing factor;OTTHUMP00000023906;OTTHUMP00000023907;nf-kappab repressing factor;transcription factor NRF APPROVED protein-coding ENSG00000186416 HGNC:19374 02341 300440 REVIEWED 1322930 NKD2 naked cuticle homolog 2 (Drosophila) This gene encodes a member of a family of proteins that function as negative regulators of Wnt receptor signaling through interaction with Dishevelled family members. The encoded protein participates in the delivery of transforming growth factor alpha-containing vesicles to the cell membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 5 5 5 p15.3 1048097 1076601 + 1008941 1038927 + 1008826 1038812 + 1580863;6480464;6484113;6907045;8554872 10737800;11356022;11604995;12477932;15064403;15687260;16752383;17045239;17362910;17553928;17764565;18504258;18757723;19847810;20177058;20828404;21988832;22087225 85409 Q969F2 AB062887;ABBA01034220;ABBA01034221;ABBA01034222;AC116351;AF358137;AMYH02010758;AMYH02010759;AMYH02010760;BC004940;BC012176;BE061409;CH471102;NM_001271082;NM_033120;XM_005248382;XM_005248383;XM_006714505;XM_006725007;XM_006725008;XM_006725009 AAH04940;AAH12176;AAK57486;BAB70501;EAX08182;EAX08183;EAX08184;NP_001258011;NP_149111;Q969F2;XP_005248439;XP_005248440;XP_006714568;XP_006725070;XP_006725071;XP_006725072 Hs.240951 1689163;1731058 D10S18;RH98721 Naked2;hNkd2;naked-2 Dvl-binding protein NKD2;OTTHUMP00000115406;OTTHUMP00000220490;naked cuticle-2;protein naked cuticle homolog 2 APPROVED protein-coding ENSG00000145506 HGNC:17046 08483 607852 REVIEWED 1315537 NKX1-2 NK1 homeobox 2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH paracetamol; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 10 10 10 q26.13 119908245 119910797 - 126135998 126138550 - 124447429 124449981 - 6480464 10681422;15146197 390010 Q9UD57 ABBA01034143;AL445237;AMYH02023976;CH471066;NM_001146340 EAW49270;NP_001139812;Q9UD57 Hs.712041 C10orf121;NKX-1.1;bB238F13.2 NK1 transcription factor related, locus 2;NK1 transcription factor-related protein 2;OTTHUMP00000245953;Sax1-like;homeobox protein SAX-1 protein-coding HGNC:31652 INFERRED 1321311 NIPSNAP1 nipsnap homolog 1 (C. elegans) This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 22 22 22 q12.2 13750532 13776881 - 29950797 29977326 - 29554808 29581337 - 1580863;6480464;8554872 11895482;12477932;12925885;14676191;15489334;16169070;16212417;16344560;18392847;18457437;20186120;20562859;20877624;21139048;21890473;21900206;22311985;22505724;23402259;23443559;24137763;24244333;24255178;24583282;24654937;24816145;9661659 8508 B4DQI7;C9JDV8;F8WCR5;H7C2U6;Q9BPW8 ABBA01055266;ABBA01055267;ABBA01055268;AC005529;AJ001258;AK098367;AK290953;AK298816;AK314407;AMYH02038202;AMYH02038203;BC002371;BC006473;BC018869;CH471095;DA133702;NM_001202502;NM_003634;XM_005261789 AAH02371;AAH06473;BAF83642;BAG37030;BAG60949;CAA04632;EAW59813;NP_001189431;NP_003625;Q9BPW8;XP_005261846 Hs.173878 1689654;1712342;2125516;2186407 G54159;RH178;STS-H24436;WI-15873 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1;NIPSNAP, C. elegans, homolog 1;OTTHUMP00000199702;OTTHUMP00000199704;protein NipSnap homolog 1 APPROVED protein-coding ENSG00000184117 HGNC:7827 10342 603249 REVIEWED 1353165 NKTR natural killer cell triggering receptor This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008] 3 3 3 p22.1 42582557 42630629 + 42642147 42690233 + 42600655 42648741 + 1580863;6480464;8554872 12477932;14702039;14729963;17081983;1720812;17620599;18976975;19322201;19596686;20936779;24250222;8144875;8314596;8413330;8421688 4820 A8K7K2;C9JMM5;P30414 AA493639;AB209888;ABBA01024763;ABBA01024764;ABBA01024765;ABBA01024766;AC006059;AC092047;AF184110;AK097208;AK126234;AK292017;AMYH02006629;BC020672;BC035644;BC051318;BC072680;BC144518;BU632018;BX538094;BX640751;BX641127;BX957215;BX957218;CH471055;CR749415;CR749571;L04288;NM_005385;S65996;XM_005265173;XM_005265174;XM_005265176;XM_005265178;XM_006713171;XM_006713172;XM_006713173;XM_006713174 AAA35734;AAB28499;AAD56402;AAI67775;BAD93125;BAF84706;CAE45859;CAE46057;CAF29506;CAF29508;CAH18257;CAH18366;EAW64659;EAW64660;EAW64661;NP_005376;P30414;XP_005265230;XP_005265231;XP_005265233;XP_005265235;XP_006713234;XP_006713235;XP_006713236;XP_006713237 Hs.529509 1334827;1652967;1739809;1759415;1761301;1761341;1849329;1851803;5015861;5023733;5092624;7185938 A005C05;AU048745;D10S16;D3S3481E;D3S3559;G32221;RH12634;SHGC-145304;SHGC-145352;SHGC-150985;SHGC-76859 DKFZp686F1754;DKFZp686G0426;DKFZp686J06106;DKFZp686N24126;MGC90527;p104 NK-TR protein;NK-tumor recognition protein;OTTHUMP00000164031;natural killer triggering receptor;natural killer-tumor recognition sequence;natural-killer cells cyclophilin-related protein APPROVED protein-coding ENSG00000114857 HGNC:7833 01195 161565 REVIEWED 6769737 NKX2-2-AS1 NKX2-2 antisense RNA 1 p11.22 18538132 100874189 AI675189;AL133325 Hs.516922 NKX2-2AS APPROVED ncrna HGNC:37154 1318340 NKX2-3 NK2 homeobox 3 This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010] 10 10 10 q24.2 95029393 95032984 + 101292690 101296281 + 99532933 99536524 + 1580863;6480464 11457859;12141427;12477932;15164054;15489334;16385451;17554261;17554300;18255255;18438405;18438406;18587394;18936107;19174780;19422935;19683022;19760754;19861958;20165982;20188614;20211142;20228798;20228799;20473688;20886065;21049557;21072187;21102463;21514341;21637825;21803625;21968973;22377701;22412388;23064961;23128233;23222517;8812123 159296 Q8TAU0 ABBA01063247;AK300856;AK313485;AL353719;AL513542;AMYH02023635;BC025788;BI764885;CH471066;NG_016854;NM_145285 AAH25788;BAG62506;EAW49867;NP_660328;Q8TAU0 Hs.243272 1758177;2218794 NKX2-3_1975;SHGC-147590 CSX3;NK2.3;NKX2.3;NKX2C;NKX4-3 NK2 transcription factor related, locus 3;OTTHUMP00000020258;homeobox protein NK-2 homolog C;homeobox protein Nkx-2.3 APPROVED protein-coding ENSG00000119919 HGNC:7836 05992 606727 REVIEWED 1603306 NKX1-1 NK1 homeobox 1 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN lipid metabolic process (inferred); neurological system process (inferred); regulation of generation of precursor metabolites and energy (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); potassium dichromate (ortholog); tunicamycin (ortholog) 4 4 p16.3 1324669 1339840 - 1396720 1400119 - 6480464 7518789 54729 Q15270 AC118281;NM_001290079;X76978;XM_926341 CAA54282;NP_001277008;Q15270;XP_931434 Hs.526396 1688060;1757307 Cda1ad08;SHGC-144709 HSPX153;NKX-1.1;SAX2 HPX-153 homeobox;NK1 transcription factor related, locus 1;NK1 transcription factor-related protein 1;OTTHUMP00000217682;homeobox protein 153;homeobox protein SAX-2 protein-coding HGNC:24975 PROVISIONAL 7246848 NKX2-1-AS1 NKX2-1 antisense RNA 1 14 14 14 16852068 16855766 + 36988483 36992221 + 36519278 36523016 + 16344560;23667675 100506237 ABBA01061527;AL132857;AMYH02029026;BX114409;BX161496;DA256249;NR_103710 CAD61942 Hs.497090;Hs.94367 1792526 PMC152810P1 ncrna ENSG00000253563 HGNC:40585 VALIDATED 1343785 NKX2-4 NK2 homeobox 4 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cadmium atom; indole-3-methanol (ortholog); N-nitrosodiethylamine (ortholog) 20 20 20 p11.22 21449893 21451935 - 21376005 21378047 - 21395367 21397409 - 6480464 10818213;11780052;1346742 644524 Q9H2Z4 ABBA01054104;AF202037;AL133325;AL158013;AMYH02036816;CH471133;NM_033176 AAG35617;EAX10185;NP_149416;Q9H2Z4 Hs.456662 NKX2.4;NKX2D NK-2 homolog D;NK2 transcription factor homolog D;NK2 transcription factor related, locus 4;OTTHUMP00000030401;homeobox protein NK-2 homolog D;homeobox protein Nkx-2.4 protein-coding HGNC:7837 607808 VALIDATED 1318213 NKX2-2 NK2 homeobox 2 The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008] 20 20 20 p11.22 21565531 21568547 - 21491655 21494664 - 21511010 21514026 - 1580863;2306244;6480464;6907045;8554872 15048854 10772886;10818213;11780052;12477932;1346742;14573534;15489334;15695521;16697960;16873704;17335795;18029348;18414662;18987169;19011242;20467438;20599218;21481790;21624811;22446943;24411943;24982138;9703340 4821 O95096;Q9HBZ5 ABBA01054105;AF019414;AF019415;AF184045;AL133325;AMYH02036817;BC075092;BC075093;BM314196;BQ632044;BU070383;CA772329;CH471133;NM_002509;XM_006723566 AAC83132;AAG16976;AAH75092;AAH75093;ABZ92170;EAX10183;NP_002500;O95096;XP_006723629 Hs.516922 1791740;5021955 Nkx2-2;PMC123023P4 NKX2.2;NKX2B NK-2 homolog B;NK2 transcription factor related, locus 2;NK2 transcription factor-like protein B;OTTHUMP00000030405;homeobox protein NK-2 homolog B;homeobox protein Nkx-2.2 APPROVED protein-coding ENSG00000125820 HGNC:7835 05213 604612 REVIEWED 1603362 NKX2-6 NK2 homeobox 6 This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011] 8 8 8 p21.2 22523400 22527359 - 23559964 23564111 - 23702451 23706598 - 6480464;7240710;8699517;8554872 15146197;15649947;18316326;18939937;22310353;7665173;9621430 137814 A6NCS4 ABBA01005546;AC012574;AMYH02017621;CN272646;NG_030636;NM_001136271 A6NCS4;BAG74155;NP_001129743 Hs.532654 2187791 G69457 CSX2;CTHM;NKX2F;NKX4-2 NK2 transcription factor related, locus 6;OTTHUMP00000225197;homeobox protein NK-2 homolog F;homeobox protein NK2 homolog F;homeobox protein NKX2.6;homeobox protein Nkx-2.6;tinman paralog APPROVED protein-coding ENSG00000180053 HGNC:32940 217095;611770 REVIEWED 1321643 NKX2-8 NK2 homeobox 8 ENCODES a protein that exhibits double-stranded DNA binding; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; INVOLVED IN transcription from RNA polymerase II promoter; transcription, DNA-templated; ASSOCIATED WITH Chorea (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; 17beta-estradiol (ortholog) 14 14 14 q13.3 16912759 16915329 - 37049216 37051786 - 36580011 36582581 - 1580863;6480464;8554872 11252173;12167706;12477932;15235609;19279207;21148747;22223847;23604637;9446603 26257 O15522 ABBA01061527;AF000295;AF000297;AK313537;AL079303;AMYH02029026;BC041090;NM_014360 AAC71081;AAC71082;AAH41090;BAG36314;NP_055175;O15522 Hs.234763 NKX2.8;NKX2H;Nkx2-9 NK-2 homolog 8;NK-2 homolog H;NK2 transcription factor related, locus 8;OTTHUMP00000027959;homeobox protein NK-2 homolog H;homeobox protein Nkx-2.8 protein-coding HGNC:16364 04456 603245 PROVISIONAL 1606841 NKX2-5 NK2 homeobox 5 This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 5 5 5 q34 168692473 168695681 - 172659107 172662315 - 173232104 173235312 - 5131637;6480464;7240710;1580253;7247738;7247729;8554872;8699517 1581132;19395679;23285148;9651244 10206974;10587520;10903346;10948187;11431700;11714651;11889119;12023302;12074273;12122109;12414819;12477932;12499378;12775767;12798584;12845333;12858530;12858532;14500364;14607454;15109497;15161646;15340050;15342699;15363409;15489334;15542826;15649947;15653675;15917268;16137232;16138909;16344560;16418214;16556596;16678093;17308084;17584735;17891434;17891520;18076106;18079734;18084293;18219441;18492690;18547965;18579533;18689573;18851995;18939937;18976153;18983250;18997347;19049681;19073351;19181906;19217179;19302747;19371212;19464101;19479054;19533775;19564151;19595143;19913121;19948535;20021795;20022124;20062060;20137692;20157192;20211142;20456451;20487506;20561859;20606036;20628086;20725931;20807224;20932824;21091212;21110066;21152044;21165553;21188375;21262546;21276881;21519287;21561848;21815254;21931855;22011241;22043484;22179962;22192413;22306654;22560297;22576768;22647876;22666732;22824467;22849347;22920929;22959235;22964646;23525379;23583979;23644027;23661673;23751912;23778487;23936479;24041700;24182332;24376681;25017055;7665173;8887666;8900537;9312027;9748262;9858576 1482 E5RH49;P52952 AB021133;ABBA01044025;AC008412;AI609745;AK290615;AK297844;AK307218;AK307247;AK307249;AK309495;AMYH02012772;BC025711;CH471062;DA559427;NG_013340;NM_001166175;NM_001166176;NM_004387;U34962;XM_005265820 AAC50470;AAH25711;ABM84239;ABM85030;ABM87626;BAA35181;BAF83304;BAG60178;EAW61404;NP_001159647;NP_001159648;NP_004378;P52952;XP_005265877 Hs.54473 1678951 RH80828 CHNG5;CSX;CSX1;FLJ52202;FLJ97166;FLJ97195;FLJ97197;FLJ99536;HLHS2;NKX2.5;NKX2E;NKX4-1;VSD3 NK2 transcription factor related, locus 5;OTTHUMP00000161080;OTTHUMP00000225425;OTTHUMP00000225426;cardiac-specific homeobox 1;homeobox protein CSX;homeobox protein NK-2 homolog E;homeobox protein Nkx-2.5;tinman paralog APPROVED protein-coding ENSG00000183072 HGNC:2488 02787 108900;187500;217095;225250;600584;614432;614435 REVIEWED 1346979 NKX6-1 NK6 homeobox 1 In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008] 4 4 4 q21.33 82704620 82709571 - 85414436 85419387 - 84493148 84499154 - 1580863;2311166;6480464;6907045 18687784 10567713;15056733;15839736;16873704;18029348;18347054;18754095;19056867;20106981;21108535;21985235;23863625;23897760;9119408 4825 F8VWZ9;P78426 ABBA01063479;AC096766;AMYH02009631;CH471057;NM_006168;U66797;U66798;U66799;XM_006714230 AAD11962;AAI60030;EAX05949;NP_006159;P78426;XP_006714293 Hs.546270 NKX6.1;NKX6A NK homeo box, family 6, member A;NK homeobox, family 6, A;NK6 transcription factor homolog A;NK6 transcription factor related, locus 1;OTTHUMP00000160981;homeobox protein NK-6 homolog A;homeobox protein Nkx-6.1 2316335 GLUCO232_H APPROVED protein-coding HGNC:7839 09092 602563 VALIDATED 1353604 NKX3-2 NK3 homeobox 2 This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 14008663 14012323 - 13542454 13546114 - 13540830 13544490 - 1580863;6480464;7240710;8699517;8554872 11076863;12477932;14612411;15024065;15489334;20004766;21606193;22507129;24347629;9256352;9344671;9426254 579 P78367 ABBA01032544;AC006445;AF005260;AF009801;AF009802;AMYH02008784;BC111966;CH471069;NG_023192;NM_001189;U89845 AAB49696;AAB82783;AAB82784;AAC39536;AAI11927;AAI11967;AAI18498;ABZ91996;EAW92714;NP_001180;P78367 Hs.590927 2154314;2218296 BAPX1_4433;SHGC-67264 BAPX1;MGC138171;NKX3.2;NKX3B;SMMD OTTHUMP00000115816;bagpipe homeobox protein homolog 1;homeobox protein NK-3 homolog B;homeobox protein Nkx-3.2 APPROVED protein-coding ENSG00000109705 HGNC:951 09075 602183;613330 REVIEWED 1316381 NKX6-2 NK6 homeobox 2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN central nervous system myelination (inferred); endocrine pancreas development (inferred); negative regulation of cell fate commitment (inferred); INTERACTS WITH 17beta-estradiol; silicon dioxide; 4,4'-diaminodiphenylmethane (ortholog) 10 10 10 q26 128918129 128919346 + 134598320 134599537 - 132784816 132786033 - 1580863;6480464 11210186;12477932 84504 Q9C056 ABBA01006193;ABBA01006194;ABBA01006195;AF184215;AL392043;AMYH02024080;BC101635;BC104823;BF509028;CH471211;NM_177400 AAI01636;AAI04824;AAK13251;EAW61308;NP_796374;Q9C056 Hs.134013 1701062;5493513 RH104158;UniSTS:486958 GTX;MGC126684;NKX6.2;NKX6B NK homeobox family 6, B;NK6 transcription factor related, locus 2;OTTHUMP00000020781;glial and testis-specific homeobox protein;homeobox 6B;homeobox protein NK-6 homolog B;homeobox protein Nkx-6.2 protein-coding HGNC:19321 09336 605955 VALIDATED 1605569 NKX6-3 NK6 homeobox 3 The NKX family of homeodomain proteins controls numerous developmental processes. Members of the NKX6 subfamily, including NKX6-3, are involved in development of the central nervous system (CNS), gastrointestinal tract, and pancreas (Alanentalo et al., 2006 [PubMed 16326147]).[supplied by OMIM, Mar 2008] 8 8 8 p11.21 40452355 40453402 - 41503829 41508011 - 41646310 41650492 - 6480464 12477932;16326147 157848 A6NJ46 ABBA01021135;ABBA01021136;AC009630;AC113133;AK057898;AMYH02017882;AMYH02017883;CH471080;NM_152568;XM_005273422 A6NJ46;AAI56230;AAI57003;BAB71610;EAW63251;EAW63252;NP_689781;XP_005273479 Hs.647132 5493561 UniSTS:487218 FLJ25169;NKX6.3 NK6 transcription factor related, locus 3;OTTHUMP00000225817;homeobox protein Nkx-6.3 APPROVED protein-coding HGNC:26328 08053 610772 PROVISIONAL 1604007 NLE1 notchless homolog 1 (Drosophila) INVOLVED IN hematopoietic stem cell homeostasis (inferred); inner cell mass cell differentiation (inferred); negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; cisplatin; phenobarbital 17 17 17 q12 30368560 30379514 - 33458368 33469322 - 35131322 35142315 - 6480464;8554872 11124703;12429849;12477932;14702039;15342556;15489334;16189514;17041588;18029348;21145461;21906983;21963094;22505724;22586326;24654937;24816145 54475 K7EK23;K7EN33;K7ERN7;Q9NVX2 AB209111;ABBA01011226;ABBA01011227;AC022916;AJ005257;AK001320;AK303253;AK304508;AMYH02033344;AW451963;BC002884;BC012075;BE272051;BI752930;BI911995;BP244661;BQ070427;CH471147;HC250965;HC311154;HY320157;NM_001014445;NM_018096;XM_005257989;XM_005257992;XM_006721956 AAH02884;AAH12075;BAA91621;BAD92348;BAG64336;BAG65315;CAA06444;CBJ05780;CBJ21232;EAW80165;EAW80166;EAW80167;NP_001014445;NP_060566;Q9NVX2;XP_005258046;XP_005258049;XP_006722019 Hs.85570 1676806;2120635;2174091;2191565 MARC_26573-26574:1033747979:7;RH15758;STS-R50161;STS-W73253 FLJ10458;Nle Notchless gene homolog;OTTHUMP00000163848;OTTHUMP00000163849;notchless protein homolog 1 protein-coding ENSG00000073536 HGNC:19889 16903 VALIDATED 1313354 NKX3-1 NK3 homeobox 1 This gene encodes a homeobox-containing transcription factor. This transcription factor functions as a negative regulator of epithelial cell growth in prostate tissue. Aberrant expression of this gene is associated with prostate tumor progression. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jan 2012] 8 8 8 p21.2 22499634 22503878 - 23536206 23540450 - 23678693 23682937 - 1580863;6480464;6484113;6907045 10559189;10993896;11085535;11137288;11809674;11980664;12450213;12477932;12661036;12972618;14633588;14648854;15311057;15489334;15523673;15691383;15734999;15880262;16201967;16382041;16397218;16413692;16442598;16519150;16581776;16697957;16814806;16817226;16845664;17108105;17202838;17234752;17486276;17488276;17602165;18077445;18296735;18360715;18454873;18757402;18794125;18816836;18974119;19258508;19263243;19266349;19453261;19462257;19597465;19767753;19780584;19797053;19886863;19915572;20363913;20395202;20479932;20564319;20588175;20676098;20716579;20842667;20855495;21456068;21945437;22083957;22179513;22344708;22484818;22741436;22848398;22910912;23129228;23836514;23867798;23890999;24418414;24434284;24779299;9226374;9377551;9537602 4824 Q99801 ABBA01005546;AC012574;AC051642;AF247704;AF249669;AF249670;AF249671;AF249672;AMYH02017621;BC074863;BC074864;BC111574;BF511129;CH471080;NM_001256339;NM_006167;NR_046072;U80669;U91540 AAB38747;AAB68662;AAG09781;AAG39735;AAG39736;AAG39737;AAG39738;AAH74863;AAH74864;ABZ92171;EAW63613;NP_001243268;NP_006158;Q99801 Hs.55999 1662103;1675593;1796408 NKX3-1_1192;RH94244;SHGC-57295 BAPX2;NKX3;NKX3.1;NKX3A NK homeobox, family 3, A;NK3 transcription factor homolog A;NK3 transcription factor related, locus 1;OTTHUMP00000123534;homeobox protein NK-3 homolog A;homeobox protein Nkx-3.1 APPROVED protein-coding ENSG00000167034 HGNC:7838 03620 602041 REVIEWED 6481359 NLGN1-AS1 NLGN1 antisense RNA 1 q26.31 100874010 AC110871;BX101530;NR_046664 Hs.624265 APPROVED ncrna HGNC:40676 VALIDATED 736453 NLGN1 neuroligin 1 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008] 3 3 3 q26.31 171515223 172400529 + 173115570 174004434 + 173397780 174286644 + 1580863;6480464;8554872 10470851;10819331;10892652;10996085;12477932;14522992;14702039;15489334;15797875;16077734;16344560;16641997;16882988;17474715;18987618;19086053;19598235;19730411;19736351;20034102;20201926;20379614;20398908;20516156;20677014;21838267;22750515;23264101;23719805;23853109;23929743;24024966;7736595;8576240;9278515 22871 C9J4D3;C9JWG7;D2X2H5;Q8N2Q7 AB028993;ABBA01058623;ABBA01058624;ABBA01058625;ABBA01058626;ABBA01058627;ABBA01058628;ABBA01058629;ABBA01058630;ABBA01058631;ABBA01058632;ABBA01058633;ABBA01058634;ABBA01058635;ABBA01058636;AC008082;AC008120;AC018456;AC069531;AC092923;AC092967;AC110871;AC131158;AF086015;AK074522;AK129874;AK307813;AMYH02008156;AMYH02008157;AMYH02008158;AMYH02008159;AMYH02008160;AMYH02008161;AMYH02008162;AMYH02008163;AMYH02008164;AMYH02008165;AMYH02008166;BC032555;CB052838;CH471052;DA310134;GQ489206;NM_014932;XM_005247232;XM_005247233;XM_005247234;XM_005247235;XM_005247236;XM_005247237;XM_006713540 AAH32555;ABM82165;ABW03367;ADB12633;BAA83022;BAC11039;EAW78453;EAW78454;EAW78455;EAW78456;NP_055747;Q8N2Q7;XP_005247289;XP_005247290;XP_005247291;XP_005247292;XP_005247293;XP_005247294;XP_006713603 Hs.478289;Hs.732502 1338003;1338754;1657267;1665083;1668453;1669653;1672330;1674679;1700764;1709806;1713605;1715491;1717595;1719789;1725271;1729976;1749839;1751323;1751463;1770662;1789246;2111039;2137877;2161576;2219184;7187952 D3S1240;D3S1494E;D3S1565;D3S2361;D3S2425;G31504;G65623;NLGN1__6059;RH104007;RH119354;RH120677;RH120987;RH122102;RH123586;RH46211;RH47794;RH48016;RH48275;SHGC-105188;SHGC-105283;SHGC-111576;SHGC-24334;SHGC-77554;SHGC-84720;WI-11234 KIAA1070;MGC45115;NL1 OTTHUMP00000211275;OTTHUMP00000211276;neuroligin-1 APPROVED protein-coding ENSG00000169760 HGNC:14291 07195 600568 REVIEWED 1316518 NKIRAS2 NFKB inhibitor interacting Ras-like 2 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN GTP catabolic process (inferred); small GTPase mediated signal transduction (inferred); FOUND IN cytoplasm (inferred); intracellular (inferred); membrane (inferred); INTERACTS WITH cobalt dichloride; lead(0); lead(2+) 17 17 17 q21.2 36824646 36832710 + 40169594 40177659 + 42017576 42025641 + 1580863;6480464 10657303;12477932;14702039;15489334;16344560;18434448;20639196;21139048;21890473;21900206;21988832;24816145 28511 H7BXP1;K7EKE9;K7ELL8;K7ER26;K7ERG2;Q9NYR9 ABBA01006441;AC105024;AF229840;AK027265;AK054571;AK297975;AL137682;AMYH02033424;BC007316;BC007450;BC009059;BC063498;BG717103;CH471152;DA509824;DA607452;DQ314882;NM_001001349;NM_001144927;NM_001144928;NM_001144929;NM_017595;XM_005257251 AAF34999;AAH07450;AAH63498;ABC40741;ABM84159;ABM87562;BAB55006;BAG51392;BAG60285;CAB70873;EAW60790;EAW60791;EAW60792;EAW60793;EAW60794;NP_001001349;NP_001138399;NP_001138400;NP_001138401;NP_060065;Q9NYR9;XP_005257308 Hs.632252 1338879;1661707;1666875;2131743;5015961;5016478;5037552 A001U04;D15S1477;D6S1611;D8S2279;GDB:434012;WI-12446;WI-21902 DKFZp434N1526;KBRAS2;MGC74742;kappaB-Ras2 I-kappa-B-interacting Ras-like protein 2;NF-kappa-B inhibitor-interacting Ras-like protein 2;NFKB inhibitor interacting Ras-like protein 2;OTTHUMP00000164763;OTTHUMP00000164764;OTTHUMP00000164765;OTTHUMP00000164766;OTTHUMP00000164767;OTTHUMP00000164768;kappa B-Ras protein 2 protein-coding ENSG00000168256 HGNC:17898 07261 604497 VALIDATED 6481263 NLGN4Y-AS1 NLGN4Y antisense RNA 1 Y Y 16905522 16915913 - 14793642 14804033 - 15146197 100874056 ABBA01056983;ABBA01056984;AC010879;CN268789;HG512852;NR_046504 Hs.743197 AC010879.1;NLGN4Y-AS;NLGN4YAS APPROVED ncrna ENSG00000228787 HGNC:38793 PREDICTED 1351370 NLGN4Y neuroligin 4, Y-linked This gene encodes a type I membrane protein that belongs to the family of neuroligins, which are cell adhesion molecules present at the postsynaptic side of the synapse, and may be essential for the formation of functional synapses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Mar 2011] X Y Y q11.221 3620431 3941794 + 16634488 16956825 + 14522608 14844945 + 1580863;6480464;8554872 10231032;10996085;12477932;12669065;12815422;15489334;16077734;17292328;18029348;18227507;18628683;18923512;19605777;8889548 22829 A6NMU8;B4DHI3;H0Y7G6;Q8NFZ3 AA558153;AB023168;ABBA01056959;ABBA01056960;ABBA01056961;ABBA01056962;ABBA01056963;ABBA01056964;ABBA01056965;ABBA01056966;ABBA01056967;ABBA01056968;ABBA01056969;ABBA01056970;ABBA01056971;ABBA01056972;ABBA01056973;ABBA01056974;ABBA01056975;ABBA01056976;ABBA01056977;ABBA01056978;ABBA01056979;ABBA01056980;ABBA01056981;ABBA01056982;ABBA01056983;ABBA01056984;ABBA01056985;ABBA01056986;ABBA01056987;ABBA01056988;AC010726;AC010879;AC010979;AC011903;AF376804;AK295117;AX358049;BC032567;BC113525;BC113551;BF222878;BM722570;BX537428;CH471155;DC360504;NG_028212;NM_001164238;NM_001206850;NM_014893;NR_028319;NR_046355;XM_006724874 AAH32567;AAI13526;AAI13552;AAM46113;BAA76795;BAG58145;CAD23295;CAD97670;EAW91620;EAW91621;EAW91622;EAW91623;EAW91624;EAW91625;NP_001157710;NP_001193779;NP_055708;Q8NFZ3;XP_006724937 Hs.439199;Hs.694600 1678257;1680282;1694782;2113596;2126591;2143479;2188379;2188385;2188389;2188399;2188403;2188409;2188963;2188967;2188969;5022863;5095318;5095320;5095322;5095324;5095326;5115982;5116784;5116786;5116788;5116806;5116808;5116810;5116828;5116830;5116832;5116834 DXYS100;DXYS125;G43607;G66005;G66008;G66009;G66230;G66233;G66236;G66241;G66393;G66396;NLGN4Y-2;NLGN4Y-3;NLGN4Y-4;NLGN4Y-5-1;NLGN4Y-5-2;NLGN4Y-6;RH15923;RH48712;sY1239;sY1773;sY3181;sY3182;sY3183;sY3192;sY3193;sY3194;sY3203;sY3204;sY3205;sY3206 KIAA0951 OTTHUMP00000034786;OTTHUMP00000034787;OTTHUMP00000034788;OTTHUMP00000034789;OTTHUMP00000034790;neuroligin 4, Y linked;neuroligin Y;neuroligin-4, Y-linked APPROVED protein-coding ENSG00000165246;ENSG00000278904 HGNC:15529 11849 400028 REVIEWED 732483 NKX2-1 NK2 homeobox 1 This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014] 14 14 14 q13 16849149 16852977 - 36985602 36990894 - 36516397 36520225 - 729951;1600157;1600158;1580863;2290483;6480464;6484113;7240710;8554872;8699517 16220345;17245593;17504987;1976511 10617585;10733581;11076796;11152647;11274148;11438542;11713256;11733512;11836702;11854318;11854319;11923479;11953175;11957142;11971878;12040027;12051643;12161428;12408771;12441357;12477932;12499091;12684771;12923324;14633512;14720435;14960358;14970209;15098009;15173172;15271884;15279903;15449938;15485815;15489334;15494458;15548547;15929662;15955952;16260629;16314749;16461352;16565516;16613858;16630564;16960125;16980598;17044090;17182767;17220277;1735431;17412341;17413979;17474147;17616654;17640327;17671725;17702043;17765926;18059234;18071837;18212743;18239190;18246044;18355939;18379122;18391950;18487360;18587322;18661567;18682709;18788921;18855882;18932182;18957494;18958156;18997617;19010321;19011567;19040416;19047914;19064983;19176457;19198613;19279207;19293183;19329538;19336474;19365834;19430419;19483637;19506552;19525896;19578049;19730683;19740516;19906647;20020530;20042854;20157192;20182342;20302910;20467438;20518411;20565809;20701785;20734064;20823767;20830690;20848248;21036415;21164283;21257719;21343336;21425409;21464700;21471965;21481790;21555194;21562130;21677782;21717589;21730105;21771032;21775107;21784970;21813802;21982616;22011671;22166853;22185756;22242187;22383183;22439932;22531686;22761434;22825795;22832740;22959176;22982653;23125078;23169673;23259454;23322301;23361500;23379327;23418554;23507558;23514941;23625920;23637834;23658034;23667675;23675755;23763999;23787483;23818522;23899066;23911641;23995788;24171694;24207093;24331839;24418856;24555207;7559607;7635972;7711079;7711080;7713914;8675988;8889548;9396717;9545595;9582279;9988700 7080 F8VVG2;P43699 ABBA01061526;ABBA01061527;AL132857;AMYH02029026;BC006221;BE796718;BM970287;BM970838;BT009773;CH471078;D50739;D50740;D50741;NG_013365;NM_001079668;NM_003317;U19756;U19816;U33627;U33749;U43203;X82850 AAA83233;AAA86099;AAA89066;AAB52381;AAC50125;AAH06221;AAP88775;ABM83890;ABM87210;BAA23527;BAA23528;BAA23529;CAA58053;EAW65856;EAW65857;EAW65858;EAW65859;NP_001073136;NP_003308;P43699 Hs.94367 1769991;1792526;1798276;2122090;2165149;5492064 PMC152810P1;RH69670;RH79171;SHGC-35528;TITF1_2309;Titf1 BCH;BHC;NK-2;NKX2.1;NKX2A;T/EBP;TEBP;TITF1;TTF-1;TTF1 NK-2 homolog A;OTTHUMP00000178847;OTTHUMP00000225297;homeobox protein NK-2 homolog A;homeobox protein Nkx-2.1;thyroid nuclear factor 1;thyroid transcription factor 1 APPROVED protein-coding ENSG00000136352 HGNC:11825 02798 118700;600635;610978 REVIEWED 1603020 NLGN4X neuroligin 4, X-linked This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X p22.33 10032940 10372016 - 5808067 6146916 - 5890026 6228882 - 6480464;8699517;8554872 10574462;10996085;11368788;12477932;12669065;12975309;14702039;14963808;15146197;15150161;15274046;15340161;15389766;15489334;15620359;15622415;16077734;16344560;16377159;16508939;16648374;17292328;18029348;18093521;18189281;18227507;18231125;18628683;18923512;19058789;19125102;19545860;19598235;19645625;19726642;19736351;20301615;20436377;20543817;20714171;21278334;22948383;23431752;23468870;23710042;23851596;9278515 57502 A8K4S1;B3KP11;Q8N0W4 AB033086;ABBA01044570;ABBA01044571;ABBA01044572;ABBA01044573;ABBA01044574;ABBA01044575;ABBA01044576;ABBA01044577;ABBA01044578;ABBA01044579;ABBA01044580;ABBA01044581;ABBA01044582;ABBA01044583;ABBA01044584;ABBA01044585;ABBA01044586;ABBA01044587;ABBA01044588;ABBA01044589;ABBA01044590;ABBA01044591;ABBA01044592;ABBA01044593;ABBA01044594;ABBA01044595;ABBA01044596;ABBA01044597;ABBA01044598;ABBA01044599;ABBA01044600;ABBA01044601;ABBA01044602;ABBA01044603;ABBA01044604;ABBA01044605;ABBA01044606;ABBA01044607;ABBA01044608;ABBA01044609;ABBA01044610;ABBA01044611;ABBA01044612;AC078989;AC079173;AC097259;AC112654;AF376803;AK022621;AK055471;AK291036;AMYH02038797;AMYH02038798;AMYH02038799;AMYH02038800;AMYH02038801;AMYH02038802;AX773938;AY358562;BC034018;BM995742;CH471074;CN357526;DA724500;NG_008881;NM_001282145;NM_001282146;NM_020742;NM_181332;XM_005274564;XM_005274565;XM_005274566;XM_005274568;XM_006724504 AAH34018;AAM46112;AAQ88925;ABM84537;ABW03469;BAA86574;BAF83725;BAG51098;BAG51523;CAE06494;EAW98738;EAW98739;EAW98740;EAW98741;NP_001269074;NP_001269075;NP_065793;NP_851849;Q8N0W4;XP_005274621;XP_005274622;XP_005274623;XP_005274625;XP_006724567 Hs.21107 1339765;1680282;1694782;1702532;1739467;1740331;1758245;1758961;1787348;2126591;2143699;2153463;2188385;2188409;5116832;7185695 DXS1118E;DXS7031E;DXS7042;DXS7538;DXS7979;DXS996;DXYS125;G43607;G66233;G66396;RH15923;SHGC-147783;SHGC-150657;SHGC-155196;sY3205 ASPGX2;AUTSX2;HLNX;HNL4X;HNLX;KIAA1260;MGC22376;NLGN;NLGN4 OTTHUMP00000022863;OTTHUMP00000022864;OTTHUMP00000022865;neuroligin 4;neuroligin X;neuroligin-4, X-linked APPROVED protein-coding ENSG00000146938 HGNC:14287 02336 300427 REVIEWED 731408 NLN neurolysin (metallopeptidase M3 family) This gene encodes a member of the metallopeptidase M3 protein family that cleaves neurotensin at the Pro10-Tyr11 bond, leading to the formation of neurotensin(1-10) and neurotensin(11-13). The encoded protein is likely involved in the termination of the neurotensinergic signal in the central nervous system and in the gastrointestinal tract.[provided by RefSeq, Jun 2010] 5 5 5 q12.3 62016491 62123591 + 65018023 65125111 + 65722196 65829283 + 1580863;6480464;6907045 10235115;10574462;12168954;12477932;12609826;14702039;17251185;18316326;20379614;20877624;21139048;21832049;21906983;21963094;22939629;23383108;24816145;7836437;8869556;9003076;9257187;9735321 57486 D6R9Y0;E9PCB6;H0YAF7;H0YAK4;Q9BYT8 AB033052;ABBA01048324;AC008958;AC016643;AJ300837;AK026655;AK027602;AK096416;AK292803;AL834241;AMYH02011430;AMYH02011431;BC001644;BC004985;CA441264;CB992921;CH471137;KF510264;NM_020726;XM_005248559;XM_006714661 AAH01644;AAH04985;BAA86540;BAB55224;BAF85492;BAG53285;BAG72651;CAC27329;CAD38918;EAW51338;EAW51339;EAW51340;NP_065777;Q9BYT8;XP_005248616;XP_006714724 Hs.247460 1649976;1697966;1848190;1849951;2152208;2157175;2158577;2170548;2170550;2219186;5015404;5015861;5016478;5020274;5020948;5022651;5037552;5127135;7185938 1076;A005B09;AL010026;D10S16;D11S2921;D5S1656E;D5S514E;D8S2279;G20238;G35510;GDB:434012;L17705;L18441;NLN__6061;RH102512;RH48357;RH68646;SHGC-36641 AGTBP;DKFZp564F123;EP24.16;FLJ23002;KIAA1226;MEP;MOP OTTHUMP00000123454;OTTHUMP00000222587;OTTHUMP00000222651;angiotensin binding protein;angiotensin-binding protein;endopeptidase 24.16;microsomal endopeptidase;mitochondrial oligopeptidase M;neurolysin, mitochondrial;neurotensin endopeptidase APPROVED protein-coding ENSG00000123213 HGNC:16058 07495 611530 REVIEWED 1604212 NLRC3 NLR family, CARD domain containing 3 This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 16 16 16 p13.3 3795793 3834163 - 3589033 3627392 - 3539033 3577391 - 6480464;8554872 12477932;12766759;15705585;17925653;18976975;22505724;22718770;22863753;24062750;24560620 197358 B5MDB6;C3VPR7;C9JLH9;H3BLT9;Q7RTR2;Q8NF06 ABBA01026740;ABBA01026741;ABBA01026742;ABBA01026743;AC004494;AC006111;AF501291;AF501292;AK074109;AK090431;AK090476;AMYH02031293;AMYH02031294;AMYH02031295;AW271824;AY601811;BC027864;BK001112;CH471112;FJ889357;FO082291;NG_033123;NM_178844;NR_075083 AAM22459;AAM22460;AAT48367;ACP40993;BAB84935;BAC03412;BAC03457;DAA01245;EAW85348;EAW85349;EAW85350;EAW85351;NP_849172;Q7RTR2 Hs.592091;Hs.741496 1770032;1778981;2112916;5014740;5037552;5037760;5117897 D16S3380;D16S3381;D17S610;D8S2279;GDB:631813;SHGC-60735;SHGC-61133 CLR16.2;FLJ00348;NOD3 CARD15-like protein;NOD-like receptor C3;caterpiller 16.2;caterpiller protein 16.2;nucleotide-binding oligomerization domain protein 3;nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3 protein-coding ENSG00000167984 HGNC:29889 17639 615648 REVIEWED 1320383 NLRC4 NLR family, CARD domain containing 4 In C. elegans, Ced4 binds and activates Ced3, an apoptotic initiator caspase, via caspase-associated recruitment domains (CARDs). Human Ced4 homologs include APAF1 (MIM 602233), NOD1/CARD4 (MIM 605980), and NOD2/CARD15 (MIM 605956). These proteins have at least 1 N-terminal CARD domain followed by a centrally located nucleotide-binding domain (NBD or NACHT) and a C-terminal regulatory domain, found only in mammals, that contains either WD40 repeats or leucine-rich repeats (LRRs). CARD12 is a member of the Ced4 family and can induce apoptosis.[supplied by OMIM, Mar 2008] 2 2 2 p22-p21 32294338 32335591 - 32449518 32490812 - 32224449 32265743 - 1580863;6480464;6907045;8554872 11374873;11390368;11472070;12477932;12545166;12646168;12975309;14702039;15030775;15107016;15174051;15489334;15528373;15580302;15882992;16817903;17418785;17620097;18453601;20085538;20349122;21918512;22227487;22547706;23012363;23215645;24054992;24182552;25015289 58484 Q9NPP4 ABBA01074881;ABBA01074882;AF376061;AK095467;AK292673;AK314762;AL121653;AL389934;AMYH02003545;AMYH02003546;AMYH02003547;AW337918;AY027787;AY027788;AY027789;AY027790;AY032589;AY035391;AY358152;BC031555;CH471053;DN998613;NM_001199138;NM_001199139;NM_021209 AAH31555;AAK14776;AAK14777;AAK14778;AAK14779;AAK38730;AAK53443;AAK59843;AAQ88519;ACE86796;ACE87483;BAF85362;BAG37300;BAG53062;CAB97523;EAX00451;EAX00452;EAX00453;EAX00454;EAX00455;NP_001186067;NP_001186068;NP_067032;Q9NPP4 Hs.574741 1699754;1713977;2107909 CARD12_8077;RH103483;RH119418 CARD12;CLAN;CLAN1;CLANB;CLANC;CLAND;CLR2.1;IPAF CARD, LRR, and NACHT-containing protein;CLANA;ICE-protease activating factor;NLR family CARD domain-containing protein 4;NOD-like receptor C4;OTTHUMP00000201170;OTTHUMP00000201171;OTTHUMP00000201172;OTTHUMP00000201173;caspase recruitment domain family, member 12;caspase recruitment domain-containing protein 12;ice protease-activating factor;nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4 APPROVED protein-coding ENSG00000091106 HGNC:16412 06014 606831 VALIDATED 1604572 NLRC5 NLR family, CARD domain containing 5 This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011] 16 16 16 q13 41523685 41617251 + 57023469 57117438 + 56989547 57083526 + 6480464;8554872 10737800;12477932;12615073;14702039;16344560;20061403;20434986;20538593;20571754;20610642;20639463;21191067;21347282;22024701;22082156;22310711;22412192;22490867;22490869;22505724;22688191;23212062;23505323;23815151;24044430;24815518 84166 F5GYP0;F5H274;H0YF88;H0YFG4;H0YFT1;H0YFT3;H0YG32;H0YGE2;H0YGM1;H0YGT6;H0YGV6;Q6MZW3;Q86WI3;Q9H6Y0 AA722775;ABBA01025258;ABBA01025259;ABBA01025260;ABBA01025261;ABBA01025262;AC009090;AC023825;AF389420;AK025212;AK025362;AK027414;AK027416;AK074133;AK074182;AK090439;AK097030;AL704292;AMYH02032098;BC040278;BC050527;BC063566;BI061907;BM463398;BM993764;BX640842;CH471092;DB293035;EF452236;HA637642;NG_030337;NM_032206;XM_005256193;XM_005256194;XM_005256195;XM_005256196;XM_005256197;XM_005256198;XM_005256199;XM_005256200;XM_005256201;XM_006721297;XM_006721298;XM_006721299;XM_006721300;XR_429733;XR_429734 AAH50527;AAH63566;AAI56513;AAI72510;AAO59377;ABO40479;BAB15120;BAB55096;BAB55098;BAB84959;BAB85008;BAC03420;CAE45914;CAZ39543;EAW82898;EAW82899;EAW82900;EAW82901;EAW82902;NP_115582;Q86WI3;XP_005256250;XP_005256251;XP_005256252;XP_005256253;XP_005256254;XP_005256255;XP_005256256;XP_005256257;XP_005256258;XP_006721360;XP_006721361;XP_006721362;XP_006721363 Hs.528836 1689570;1738555;1854974;1854976 D16S2726;D16S3209;RH65291;SHGC-60981 CLR16.1;FLJ21709;FLJ39711;NOD27;NOD4 NOD-like receptor C5;OTTHUMP00000164675;OTTHUMP00000238063;caterpiller protein 16.1;nucleotide-binding oligomerization domain protein 27;nucleotide-binding oligomerization domain protein 4;nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5;nucleotide-binding oligomerization domains 27 APPROVED protein-coding ENSG00000140853 HGNC:29933 14831 613537 REVIEWED 1316559 NLRP10 NLR family, pyrin domain containing 10 Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 8096691 8100602 - 7981156 7985059 - 7959609 7963512 - 1580863;6480464;8554872 12477932;12563287;12766759;15096476;15489334;15817483;19544093;19762545;20393137;20403135;22365966;22672233;23042114;23562614;23956138 338322 E9PPY0;Q86W26 ABBA01028684;AC044810;AMYH02024287;AY154465;AY489192;BC104957;BK001110;CH471064;NM_176821 AAI04958;AAO18161;AAS67384;DAA01243;EAW68640;NP_789791;Q86W26 Hs.449636 CLR11.1;NALP10;NOD8;PAN5 NACHT, LRR and PYD domains-containing protein 10;NACHT, leucine rich repeat and PYD containing 10;OTTHUMP00000230689;PYNOD;nucleotide-binding oligomerization domain protein 8;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10 APPROVED protein-coding ENSG00000182261 HGNC:21464 14802 609662 REVIEWED 732705 NLGN2 neuroligin 2 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7337380 7349064 + 7311502 7323183 + 7408183 7419864 + 1580863;6480464;8554872 10718198;10767552;10819331;10892652;10996085;12477932;12669065;19086053;19322201;21551456;22528485;23248271;8576240;9278515;9647694 57555 I3L498;Q8NFZ4 AA447769;AB037787;ABBA01054864;ABBA01054865;AC113189;AF376802;AI613237;AMYH02032901;BC069217;BI868885;BM800364;CH471108;DR763679;EL949788;NM_020795;XM_005256744 AAI72284;AAM46111;BAA92604;EAW90195;EAW90196;EAW90197;NP_065846;Q8NFZ4;XP_005256801 Hs.26229 1740195;2169169;2170128 A005P18;D17S1783;RH15991 KIAA1366 OTTHUMP00000135277;neuroligin-2 APPROVED protein-coding ENSG00000169992 HGNC:14290 07348 606479 REVIEWED 1322162 NLRP1 NLR family, pyrin domain containing 1 This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 p13.2 5421095 5503841 - 5404719 5487832 - 5501399 5584512 - 5490211;6480464;6907045;7240710;8554872;8699517 20303873 10231032;11076957;11113115;11250163;11270363;11472070;11592035;12191486;12477932;12563287;14527388;14691733;14702039;15107016;15174051;15212762;15749123;16575408;17164409;17377159;17418785;17620097;17637824;18263805;18348116;18854154;18946481;19001869;19074885;19120479;19223160;19337385;19727120;19913121;20152874;20370570;20379614;20403135;20502346;20574744;20628086;20697295;20800603;21098108;21149496;21245836;21252346;21331694;21376416;21946017;21976003;22087307;22117610;22227487;22235789;22507623;22524199;22665479;23053059;23253924;23349227;23374100;23380025;23382179;23508996;23563199;23770116;23773036;23940760;24008734;24065540;24999993;25011449;8619474;8781126;9110174 22861 I3L0S2;I3L2G5;Q9C000 AB023143;ABBA01054817;ABBA01054818;AC055839;AF229059;AF229060;AF229061;AF229062;AF298548;AF310105;AI819334;AK026393;AK026398;AK310936;AL117470;AMYH02032860;AX089761;BP391071;CH471108;CQ971704;FB659864;NG_011651;NM_001033053;NM_014922;NM_033004;NM_033006;NM_033007 AAG15254;AAG30288;AAK00748;AAK00749;AAK00750;AAK00751;BAA76770;BAB15469;BAB15470;CAB55945;CAC34899;CAI40574;CAS01786;EAW90321;EAW90322;EAW90323;EAW90324;EAW90325;EAW90326;EAW90327;NP_001028225;NP_055737;NP_127497;NP_127499;NP_127500;Q9C000 Hs.652273 1298244;1340002;1645768;1654401;1712272;1716205;1758401;2180098 D17S1303;D17S974;G54044;RH121127;RH78691;SGC31897;SHGC-148247;STS-H51285 CARD7;CLR17.1;DKFZp586O1822;KIAA0926;NAC;NALP1;PP1044;SLEV1;VAMAS1 CIDED;DEFCAP;DEFCAP-L/S;NACHT, LRR and PYD containing protein 1;NACHT, LRR and PYD domains-containing protein 1;NACHT, leucine rich repeat and PYD (pyrin domain) containing 1;NACHT, leucine rich repeat and PYD containing 1;caspase recruitment domain protein 7;caspase recruitment domain-containing protein 7;death effector filament-forming Ced-4-like apoptosis protein;nucleotide-binding domain and caspase recruitment domain;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1 APPROVED protein-coding ENSG00000091592 HGNC:14374 07364 606579;606636;615225 REVIEWED 1349443 NLRP11 NLR family, pyrin domain containing 11 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP11, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] 19 19 19 q13.43 53341920 53393276 - 56296763 56348128 - 55785397 55836762 - 1580863;6480464;8554872 12019269;12387869;12477932;12563287;12615073;14702039;15489334;19010793;19074885;20403135;21890473;21906983;22267201;23307926;23377640 204801 K7EMN8;K7EQV0;K7ESF9;P59045 ABBA01020854;AC008749;AC012310;AK090621;AK129784;AK310394;AMYH02036478;AMYH02036479;AMYH02036480;AY095145;AY154466;AY168967;AY168968;AY226382;BC034730;BC036506;BU622142;CH471135;NM_001297743;NM_145007;XM_005258632;XM_005258633;XR_243912;XR_243913 AAH34730;AAM14632;AAO12532;AAO12533;AAO18162;AAO59428;BAC03490;EAW72415;EAW72416;NP_001284672;NP_659444;P59045;XP_005258689;XP_005258690 Hs.375039 1783818 SHGC-153591 CLR19.6;FLJ26273;NALP11;NOD17;PAN10;PYPAF6;PYPAF7 NACHT, LRR and PYD containing protein 11;NACHT, LRR and PYD domains-containing protein 11;NACHT, leucine rich repeat and PYD containing 11;PAAD- and NACHT-containing protein 10;PAAD- and NACHT-containing protein 10B;PAAD-and NACHT domain-containing protein 10;PYRIN-containing APAF1-like protein 6;nucleotide-binding oligomerization domain protein 17;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11 APPROVED protein-coding ENSG00000179873 HGNC:22945 10110 609664 VALIDATED 1321854 NLK nemo-like kinase ENCODES a protein that exhibits transcription factor binding; ubiquitin protein ligase binding; ATP binding (ortholog); INVOLVED IN transforming growth factor beta receptor signaling pathway; intracellular signal transduction (ortholog); MAPK cascade (ortholog); PARTICIPATES IN Wnt signaling, non-canonical pathway; mitogen activated protein kinase signaling pathway; Wnt signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; cobalt dichloride 17 17 17 q11.2 23231487 23385144 + 26369009 26523407 + 28041983 28196381 + 1580863;6480464;6484113;6907045;8554872 10524757;10863097;11707333;12107411;12477932;12482967;12556497;12901858;14720327;14960582;15004007;15082531;15308626;15489334;15764709;16055500;16344560;16713569;16714285;17418100;17513757;17894482;17952062;18029348;18624398;18765672;19322201;19345186;19514049;19690946;20061393;20118921;20141612;20194509;20379614;20512928;20844743;20874444;21118996;21177110;21454679;21988832;22027747;22253297;22733362;23047923;23416699;23602568;23857283;23904219;23935942;23983589;24394665;24721172;24926618;8889548;9448268 51701 H0YD75;J3QSE9;Q9UBE8 ABBA01015063;AC061975;AC090287;AC100852;AF180819;AF197898;AK024686;AK315315;AL036279;AL161970;AMYH02033217;BC064663;BM723604;BQ636970;CH471159;DA224552;DA573077;DQ316259;NM_016231;U69562;XM_005257988 AAD56013;AAF04857;AAH64663;ABC40748;BAG37718;EAW51060;EAW51061;EAW51062;EAW51063;NP_057315;Q9UBE8;XP_005258045 Hs.208759 1679610;1680958;1683565;1686646;1686911;1688749;1726255;1728967;1796410;2122692 D2Abb1e;G42374;NLK_1472;RH39278;RH39318;RH39363;RH39425;RH65186;RH65664;UniSTS:28825 DKFZp761G1211;FLJ21033 OTTHUMP00000163282;OTTHUMP00000163283;nemo like kinase;serine/threonine-protein kinase NLK protein-coding ENSG00000087095 HGNC:29858 17637 609476 VALIDATED 1319748 NLRP12 NLR family, pyrin domain containing 12 This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 19 19 19 q13.42 51337923 51368731 - 54296838 54327657 - 53793584 53824403 - 1580863;6480464;7240710;8554872;8699517 11167794;12019269;12477932;12563287;12759408;14702039;15489334;16203735;16344560;17046979;17237370;17620097;17947705;18160710;18230725;18263805;19234190;19337385;19913121;20403135;20467438;20628086;21048031;21360512;21538323;21978668;22427013;24064030;24338634 91662 P59046 ABBA01068193;ABBA01068194;ABBA01068195;ABBA01068196;ABBA01068197;ABBA01068198;ABBA01068199;ABBA01068200;AC008753;AF231021;AK095460;AK290772;AMYH02036431;AMYH02036432;AY095146;AY116204;AY116205;AY116206;AY116207;AY154467;BC028069;CH471135;DA619102;NG_008651;NM_001277126;NM_001277129;NM_144687 AAH28069;AAK14942;AAM18227;AAM75142;AAM75143;AAM75144;AAM75145;AAO18163;ABM82010;ABM85192;BAF83461;BAG53059;EAW72151;EAW72152;EAW72153;EAW72154;EAW72155;EAW72156;EAW72157;NP_001264055;NP_001264058;NP_653288;P59046 Hs.631573 1336677;1764961;2166838;5020229;5022651;5024756 D11S2921;D19S927;G36162;L17770;RH80030;SHGC-148518 CLR19.3;FCAS2;NALP12;PAN6;PYPAF7;RNO;RNO2 NACHT, LRR and PYD containing protein 12;NACHT, LRR and PYD domains-containing protein 12;OTTHUMP00000067226;OTTHUMP00000067227;OTTHUMP00000067228;OTTHUMP00000067229;PYRIN-containing APAF1-like protein 7;monarch 1;monarch-1;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12;regulated by nitric oxide APPROVED protein-coding ENSG00000142405 HGNC:22938 14803 609648;611762 REVIEWED 1605822 NLRP2P NLR family, pyrin domain containing 2 pseudogene X X X p11.21 61556981 61560675 - 57703251 57706713 - 57676818 57680280 - 12766759 286430 ABBA01069295;ABBA01069296;AL807813;AMYH02039538;BK001116;NG_002752 NALP2P;NOD24 pseudo HGNC:29887 INFERRED 1606100 NLRP3P NLR family, pyrin domain containing 3 pseudogene X X X q22.3 107688508 107690252 + 107217124 107228221 - 107973894 107984991 - 347402 ABBA01035959;ABBA01035960;AL034399;AMYH02040220;BK001115;NG_002753 NOD13 pseudo HGNC:29886 VALIDATED 1323147 NLRP4 NLR family, pyrin domain containing 4 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP4, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] 19 19 19 q13.43 53393092 53437580 + 56347944 56393221 + 55836578 55881855 + 6480464;8554872 12019269;12093792;12182447;12387869;12477932;12563287;14702039;15107016;15489334;17420470;17435760;19074885;20403135;21209283;22388039;22928810 147945 B2RCA1;K7ES09;K7ESK5;Q96MN2 ABBA01020854;AC012310;AF442488;AF479747;AF482706;AK056688;AK315003;AMYH02036480;AMYH02036481;AY072792;BC012789;BC016443;BC021272;BC050326;BE302040;BU632773;CH471135;NM_134444;XM_006723042;XM_006723043 AAH16443;AAH50326;AAL35293;AAL68396;AAL87104;AAL88672;BAB71254;BAG37498;EAW72417;EAW72418;NP_604393;Q96MN2;XP_006723105;XP_006723106 Hs.631533 1678867;5125828 G31875;RH92203 CLR19.5;CT58;FLJ32126;NALP4;PAN2;PYPAF4;RNH2 NACHT, LRR and PYD containing protein 4;NACHT, LRR and PYD domains-containing protein 4;NACHT, leucine rich repeat and PYD containing 4;PAAD and NACHT-containing protein 2;PYRIN and NACHT-containing protein 2;PYRIN-containing APAF1-like protein 4;cancer/testis antigen 58;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4;ribonuclease inhibitor 2 APPROVED protein-coding ENSG00000160505 HGNC:22943 09619 609645 VALIDATED 1353277 NLRP13 NLR family, pyrin domain containing 13 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP13, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] 19 19 19 q13.43 53451672 53488081 - 56403058 56443702 - 55891692 55932336 - 1580863;6480464;8554872 12563287;12766759;19074885;20403135;22610502;25015289 126204 Q86W25 ABBA01020854;AC011470;AC012310;AMYH02036482;AY154468;BK001108;CH471135;NM_176810;XM_005258510 AAI46296;AAI48743;AAO18164;DAA01241;EAW72419;EAW72420;NP_789780;Q86W25;XP_005258567 Hs.446924 CLR19.7;NALP13;NOD14;PAN13 NACHT, LRR and PYD containing protein 13;NACHT, LRR and PYD domains-containing protein 13;NACHT, leucine rich repeat and PYD containing 13;OTTHUMP00000237035;nucleotide-binding oligomerization domain protein 14;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13 APPROVED protein-coding ENSG00000173572 HGNC:22937 14804 609660 VALIDATED 1348361 NLRP5 NLR family, pyrin domain containing 5 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 53555479 53617543 + 56511092 56573176 + 55999726 56061810 + 1580863;6480464;8554872 11925379;12563287;18322283;19074885;19192343;19542546;20379614;20403135;20734064;21139048 126206 M0R0W4;P59047 ABBA01020846;ABBA01020847;ABBA01020848;ABBA01020849;ABBA01020850;AC011470;AC024580;AMYH02036483;AMYH02036484;AMYH02036485;AMYH02036486;AY054986;AY154460;NM_153447 AAI41432;AAL15549;AAO18156;NP_703148;P59047 Hs.356872 2219972 NALP5__6211 CLR19.8;NALP5;PAN11;PYPAF8 MATER;NACHT, LRR and PYD domains-containing protein 5;NACHT, leucine rich repeat and PYD containing 5;OTTHUMP00000195023;mater protein homolog;maternal antigen that embryos require;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5 APPROVED protein-coding ENSG00000171487 HGNC:21269 10111 609658 REVIEWED 1350327 NLRP6 NLR family, pyrin domain containing 6 The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 11 11 11 p15 273910 280645 - 278570 285388 + 278570 285388 + 1580863;6480464 11984003;12019269;12387869;12563287;12633874;15203218;18413781;20237496;20403135;20923861;22139419;22503597;23811097;24147025;24338634;7489366;9095083 171389 P59044 ABBA01011168;AC136475;AF479748;AK292668;AMYH02024128;AY154461;CD636365;CH471278;NM_001276700;NM_138329 AAL87105;AAO18157;BAF85357;EAW61233;NP_001263629;NP_612202;P59044 Hs.352611 AVR;CLR11.4;NALP6;NAVR;NAVR/AVR;PAN3;PYPAF5 NACHT, LRR and PYD containing protein 6;NACHT, LRR and PYD domains-containing protein 6;NACHT, leucine rich repeat and PYD containing 6;OTTHUMP00000147611;OTTHUMP00000230691;PYRIN-containing APAF1-like protein 5;angiotensin II/vasopressin receptor;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6 APPROVED protein-coding ENSG00000174885 HGNC:22944 14806 609650 REVIEWED 1347943 NLRP8 NLR family, pyrin domain containing 8 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP8, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] 19 19 19 q13.43 53503590 53544386 + 56459198 56499995 + 55947832 55988629 + 6480464;8554872 12563287;12766759;19074885;20379614;20403135;22610502;23251661 126205 Q86W28 ABBA01020852;ABBA01020853;ABBA01020854;AC011470;AMYH02036482;AY154463;BK001109;KC877760;NM_176811;XM_005258511 AAI48609;AAI53175;AAO18159;DAA01242;NP_789781;Q86W28;XP_005258568 Hs.446925 2219974;5017433 NALP8__6212;STS-T76997 CLR19.2;NALP8;NOD16;PAN4 NACHT, LRR and PYD containing protein 8;NACHT, LRR and PYD domains-containing protein 8;NACHT, leucine rich repeat and PYD containing 8;PYRIN and NACHT-containing protein 4;nucleotide-binding oligomerization domain protein 16;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8 APPROVED protein-coding ENSG00000179709 HGNC:22940 14807 609659 PROVISIONAL 1344725 NLRP2 NLR family, pyrin domain containing 2 NALP proteins, such as NALP2, are characterized by an N-terminal pyrin (MIM 608107) domain (PYD) and are involved in the activation of caspase-1 (CASP1; MIM 147678) by Toll-like receptors (see TLR4; MIM 603030). They may also be involved in protein complexes that activate proinflammatory caspases (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] 19 19 19 q13.42 52517226 52552009 + 55476652 55512510 + 54965284 55001142 + 1580863;6480464;8554872 11250163;11270363;12019269;12387869;12477932;12563287;14702039;15030775;15456791;15489334;15817483;16344560;17046979;17178784;17420470;17435760;18056399;18285453;18369178;18772453;19074885;19103770;19300480;19534089;19900269;20403135;20800603;21832049;21906983;21976665;22909446;23128233;23360675;23625868;23644288;8125298 55655 F5GYZ4;F5H5B1;F5H7Q5;H0YH35;J3KN39;K7EJ90;K7ELX1;K7EMK2;K7EPE6;Q9NX02 AB209300;ABBA01068137;ABBA01068138;ABBA01068139;ABBA01068140;ABBA01068141;ABBA01068142;AC011476;AF269288;AF298547;AF310106;AF464764;AK000517;AK000784;AK025952;AK223253;AK223269;AK292681;AK302989;AMYH02036446;AMYH02036447;AMYH02036448;BC001039;BC003592;BC039269;CH471135;CU151839;DA856893;DB046128;NM_001174081;NM_001174082;NM_001174083;NM_017852 AAG15253;AAG23171;AAG30289;AAH01039;AAH03592;AAH39269;AAL69962;ABM85995;ABW03764;BAA91223;BAA91377;BAB15293;BAD92537;BAD96973;BAD96989;BAF85370;BAG64129;EAW72317;EAW72318;EAW72319;EAW72320;NP_001167552;NP_001167553;NP_001167554;NP_060322;Q9NX02 Hs.369279 1341189;1647466;1734652 D19S654E;D19S926;RH47501 CLR19.9;FLJ20510;NALP2;NBS1;PAN1;PYPAF2 NACHT, LRR and PYD containing protein 2;NACHT, LRR and PYD domains-containing protein 2;NACHT, leucine rich repeat and PYD containing 2;OTTHUMP00000236775;OTTHUMP00000236776;OTTHUMP00000236777;OTTHUMP00000236779;OTTHUMP00000236780;PYRIN domain and NACHT domain-containing protein 1;PYRIN-containing APAF1-like protein 2;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2;nucleotide-binding site protein 1 APPROVED protein-coding ENSG00000022556 HGNC:22948 14805 609364 VALIDATED 1604698 NLRP9P NLR family, pyrin domain containing 9 pseudogene 12 12 12 q24.33 129111063 129114941 + 129497829 129501711 + 129013284 129017166 + 12766759;22773346 347933 ABBA01019776;AC069262;AMYH02027535;BK001117;NG_002754 NOD25 pseudo HGNC:29888 INFERRED 1315283 NLRP14 NLR family, pyrin domain containing 14 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7160740 7211803 + 7041700 7092757 + 7020469 7071526 + 1580863;6480464;8554872 12563287;12766759;16344560;16931801;19074885;20379614;20403135 338323 Q86W24 ABBA01028675;ABBA01028676;AC100875;AK310900;AMYH02024275;AY154469;BK001107;CH471064;DB226777;NM_176822;XM_006718218 AAI56269;AAO18165;DAA01240;EAW68666;EAW68667;EAW68668;NP_789792;Q86W24;XP_006718281 Hs.449637 2219970 NALP14__6210 CLR11.2;GC-LRR;NALP14;NOD5;PAN8 NACHT, LRR and PYD containing protein 14;NACHT, LRR and PYD domains-containing protein 14;NACHT, leucine rich repeat and PYD containing 14;OTTHUMP00000230007;nucleotide-binding oligomerization domain protein 5;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14 APPROVED protein-coding ENSG00000158077 HGNC:22939 11383 609665 REVIEWED 733571 NLGN3 neuroligin 3 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009] X X X q13.1 70718556 70744930 + 70364681 70391682 + 71144831 71171832 + 1580863;6480464;7240710;8554872 10767552;10819331;10996085;11329178;12477932;12669065;14702039;15150161;15152050;15274046;15342556;15389766;15620359;15622415;16077734;16303743;16508939;16648374;17292328;18029348;18189281;18628683;18976975;19058789;19406211;19645625;20034102;20227402;20301615;21569590;21988832;22671294;23431752;23468870;23851596;24722188;8576240;9278515;9325340;9751164 54413 E7EVK0;Q4G160;Q9NZ94;X5D2P6;X5D7L6;X5DNV3 AB040913;ABBA01067675;ABBA01067676;AF217411;AF217412;AF217413;AK074814;AK296217;AK299567;AK299669;AK314699;AL590764;AMYH02039671;BC028738;BC051715;BP201014;BX641059;CH471132;GQ489207;KJ534889;KJ534890;KJ534891;KJ534977;KJ535034;KJ535040;NG_015874;NM_001166660;NM_018977;NM_181303;XM_005262279;XM_006724662;XM_006724663 AAF71230;AAF71231;AAF71232;AAF71233;AAH28738;AAH51715;ADB12634;ADZ15610;AHW56529;AHW56530;AHW56531;AHW56617;AHW56673;AHW56679;BAA96004;BAC11226;BAG37248;BAH12284;BAH13067;BAH13096;CAE46030;EAX05307;EAX05308;EAX05309;EAX05310;EAX05311;EAX05312;EAX05313;NP_001160132;NP_061850;NP_851820;Q9NZ94;XP_005262336;XP_006724725;XP_006724726 Hs.438877 2127146;5095056 NLGN4X;RH47725 ASPGX1;AUTSX1;HNL3;KIAA1480 OTTHUMP00000023498;OTTHUMP00000023499;OTTHUMP00000023500;gliotactin homolog;neuroligin-3 APPROVED protein-coding ENSG00000196338 HGNC:14289 02275 300336;300425;300494 REVIEWED 1347751 NM neutrophil migration ASSOCIATED WITH Distal myopathy, Nonaka type (inferred); Inclusion body myopathy autosomal recessive (inferred); Neutrophil Chemotactic Response (inferred) 7240710 4827 HGNC:7841 162820;269921;600737;605820 1606225 NLRX1 NLR family member X1 The protein encoded by this gene is a member of the NLR family and localizes to the outer mitochondrial membrane. The encoded protein is a regulator of mitochondrial antivirus responses. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2013] 11 11 11 q23.3 116199239 116214520 + 119039036 119054725 + 119168334 119184016 + 6480464;6907045;8554872 12477932;12766759;14702039;16344560;18200010;18219313;18397740;18466630;18854154;19692591;19913121;20628086;20877624;20959452;21150319;21703539;21903422;22386589;22610944;22718770;22749352;22939629;23321557;24429360;8125298 79671 C9J0R6;C9JLK8;C9JQE9;Q86UT6 AB094095;ABBA01039677;ABBA01039678;AK025131;AK056454;AK095247;AK225223;AK291716;AK303002;AL049456;AMYH02025663;AP002956;AY245437;BC013199;BC023974;BC110890;BK001111;BX647705;CH471065;DA107044;DA441499;EF452237;KC877494;NM_001282143;NM_001282144;NM_001282358;NM_024618;XM_005271669;XM_005271670;XM_005271671;XM_005271672;XM_006718904 AAH13199;AAI10891;AAP31240;ABO40480;BAB15075;BAC76049;BAF84405;BAG51714;BAG53014;BAH13875;CAH56420;DAA01244;EAW67467;EAW67468;EAW67469;NP_001269072;NP_001269073;NP_001269287;NP_078894;Q86UT6;XP_005271726;XP_005271727;XP_005271728;XP_005271729;XP_006718967 Hs.524082 1650899;2160089 G17564;WI-16056 CLR11.3;DLNB26;FLJ21478;MGC131937;MGC21025;NOD26;NOD5;NOD9 NLR family, X1;NOD-like receptor X1;OTTHUMP00000205767;OTTHUMP00000205768;OTTHUMP00000205769;OTTHUMP00000205770;caterpiller protein 11.3;nucleotide-binding oligomerization domain protein 26;nucleotide-binding oligomerization domain protein 5;nucleotide-binding oligomerization domain protein 9;nucleotide-binding oligomerization domain, leucine rich repeat containing X1 APPROVED protein-coding ENSG00000160703 HGNC:29890 17640 611947 REVIEWED 1604725 NLRP7 NLR family, pyrin domain containing 7 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 52475472 52499482 - 55434857 55477611 - 54923468 54965008 - 6480464;8554872;8699517 10072436;12019269;12387869;12477932;12563287;12766759;15057824;15596043;15817483;16462743;16501554;16874523;17046979;17579354;18039680;18751440;19066229;19246479;19650864;19888692;20403135;20800603;20870286;21421271;21439709;21507883;21623199;21659348;21906983;21948117;22025618;22130487;22169519;22315435;22361007;22646272;22770628;22909446;23125094;23128233;23201303;23232697;23354651;23360675;23515668;23880596;23963444;24105752 199713 K7EP54;K7EPY3;K7ER92;K7ERG0;Q8WX94 ABBA01068146;ABBA01068147;AC011476;AF464765;AK298630;AK302655;AK313964;AMYH02036446;AY154462;BC109124;BC109125;BK001113;BX363944;CH471135;CU151839;CU459006;DC425389;NG_008056;NM_001127255;NM_139176;NM_206828;XM_006723074;XM_006723075;XM_006723076;XM_006723077;XM_006725636;XM_006725637;XM_006725638;XM_006725639;XM_006725640;XM_006725763;XM_006725764;XM_006725765;XM_006725766;XM_006725864;XM_006725865;XM_006725866;XM_006725867;XM_006725952;XM_006725953;XM_006725954;XM_006725955;XM_006726051;XM_006726052;XM_006726053;XM_006726054;XM_006726149;XM_006726150;XM_006726151;XM_006726152;XM_006726189;XM_006726190;XM_006726191;XM_006726192;XM_006726269;XM_006726270;XM_006726271;XM_006726272;XM_006726307;XM_006726308;XR_430192;XR_430908;XR_430909;XR_430949;XR_430982;XR_431002;XR_431021;XR_431051;XR_431052;XR_431063;XR_431088;XR_431097 AAI09125;AAI09126;AAL69963;AAO18158;BAG60806;BAG63894;DAA01246;EAW72313;EAW72314;EAW72315;EAW72316;NP_001120727;NP_631915;NP_996611;Q8WX94;XP_006723137;XP_006723138;XP_006723139;XP_006723140;XP_006725699;XP_006725700;XP_006725701;XP_006725702;XP_006725703;XP_006725826;XP_006725827;XP_006725828;XP_006725829;XP_006725927;XP_006725928;XP_006725929;XP_006725930;XP_006726015;XP_006726016;XP_006726017;XP_006726018;XP_006726114;XP_006726115;XP_006726116;XP_006726117;XP_006726212;XP_006726213;XP_006726214;XP_006726215;XP_006726252;XP_006726253;XP_006726254;XP_006726255;XP_006726332;XP_006726333;XP_006726334;XP_006726335;XP_006726370;XP_006726371 Hs.351118 1340309;1340929;1789274 D19S890;D19S924;G67808 CLR19.4;FLJ94610;HYDM;MGC126470;MGC126471;NALP7;NOD12;PAN7;PYPAF3 NACHT, LRR and PYD containing protein 7;NACHT, LRR and PYD domains-containing protein 7;NACHT, leucine rich repeat and PYD containing 7;PYRIN-containing Apaf1-like protein 3;nucleotide-binding oligomerization domain protein 12;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 APPROVED protein-coding ENSG00000167634 HGNC:22947 10112 609661 REVIEWED 1315040 NMB neuromedin B ENCODES a protein that exhibits hormone activity (inferred); neuromedin B receptor binding (inferred); INVOLVED IN arachidonic acid secretion (inferred); cell-cell signaling (inferred); glucose homeostasis (inferred); ASSOCIATED WITH Obesity; FOUND IN extracellular region (inferred); neuron projection (inferred); INTERACTS WITH 4-hydroxynon-2-enal; 5-aza-2'-deoxycytidine; aflatoxin B1 15 15 15 q22-qter 61623887 61627329 - 85198360 85201802 - 84655129 84658571 - 1580863;1642059;1642062;6480464 11194934;15585758 10544247;12477932;1488105;15158442;15489334;15528253;16754659;1717141;1720612;17299381;17766645;18240029;18271693;20010906;20467438;21527296;23879873;2458345;4041812;7851890;8253343;8392057 4828 P08949 ABBA01052944;AC048382;AL110112;AMYH02030952;BC007407;BC007431;BC008603;BI858080;BI962836;CH471101;M21551;NM_021077;NM_205858 AAA59934;AAH07407;AAH07431;AAH08603;EAX01950;EAX01951;NP_066563;NP_995580;P08949 Hs.386470 2158765;2169846 D15S940;D2S2557 MGC17211;MGC2277;MGC3936 OTTHUMP00000192890;OTTHUMP00000192891;neuromedin-B protein-coding ENSG00000197696 HGNC:7842 01210 162340 VALIDATED 1348373 NMD3 NMD3 ribosome export adaptor Ribosomes are composed of 60S and 40S subunits that are assembled in the nucleolus and exported to the cytoplasm through nuclear pore complexes in the nuclear envelope. NMD3 is an adaptor for 60S subunit export via the CRM1 (XPO1; MIM 602559) pathway (Trotta et al., 2003 [PubMed 12773398]).[supplied by OMIM, Mar 2008] 3 3 3 q26.1 159361412 159392199 + 160939050 160970082 + 161221262 161252294 + 6480464;6907045;8554872 10810093;12477932;12724356;12773398;14702039;15635413;18029348;19615732;19946888;21048991;21139048;21890473;22113938;22939629;23383273;23782956;24778252;8125298 51068 C9IY70;C9IZW9;C9J0B9;C9JA08;C9K0C2;Q96D46 ABBA01058790;AC108738;AF132941;AK021775;AK024706;AK094749;AK225664;AK296710;AK308865;AMYH02008030;BC013317;CH471052;NM_015938;XM_005247511;XM_005247512 AAD27716;AAH13317;ACE87085;ACE87765;BAG51047;BAG52923;BAG59303;EAW78618;EAW78619;NP_057022;Q96D46;XP_005247568;XP_005247569 Hs.598836 5096488 SHGC-77504 CGI-07;FLJ21053;hNMD3 60S ribosomal export protein NMD3;NMD3 homolog;OTTHUMP00000213964;OTTHUMP00000213965;OTTHUMP00000213966 APPROVED protein-coding ENSG00000169251 HGNC:24250 13026 611021 PROVISIONAL 3277425 NMD3P2 NMD3 ribosome export adaptor pseudogene 2 7 7 7 p11.2 67676432 67677192 - 56569977 56570737 - 56502284 56503044 - 100286929 ABBA01061872;AC092447;AMYH02015759;NG_022534 APPROVED pseudo HGNC:37820 INFERRED 731785 NMBR neuromedin B receptor Neuromedin B receptor binds neuromedin B, a potent mitogen and growth factor for normal and neoplastic lung and for gastrointestinal epithelial tissue. [provided by RefSeq, Jul 2008] 6 6 6 q24.1 143137223 143150416 - 142396745 142409936 - 142075608 142088799 - 1580863;6480464 10544247;12477932;15528253;1655761;16754659;18029348;18240029;20736409;21060863;24349381;7723750;7838118;8253343;8391296;8392057;8822519;9632639 4829 AAB27330;P28336 ABBA01025759;AL589674;AMYH02014623;BC095542;CH471051;GU727635;M73482;NM_002511 AAA59939;AAB27330;AAH95542;ADU87637;EAW47886;NP_002502;P28336 Hs.654478 1741325;2161986;2219188 D6S1240E;GDB:180463;NMBR__6062 BB1;NMB-R OTTHUMP00000017317;bombesin receptor 1;epididymis tissue protein Li 185a;neuromedin-B receptor;neuromedin-B-preferring bombesin receptor APPROVED protein-coding ENSG00000135577 HGNC:7843 01211 162341 VALIDATED 6480939 NME1P1 NME/NM23 nucleoside diphosphate kinase 1 pseudogene 1 13 13 22673302 22673692 - 22099163 22099553 - 100874501 ABBA01068615;AL136962;AMYH02027673;NG_032368 APPROVED pseudo HGNC:39904 INFERRED 1318014 NLRP3 NLR family, pyrin domain containing 3 This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008] 1 1 1 q44 220878780 220911159 + 247579247 247612410 + 247415945 247449108 + 1600862;1580863;5490211;5490210;6480464;6907045;7240710;8554872;8699517 11687797;19302047;20303873 10741953;11042152;11786556;11967258;11992256;12032915;12093792;12355493;12477932;12483741;12522564;12563287;12615073;12673085;12766759;14630794;14662828;15020601;15030775;15071491;15107016;15334500;15593220;15967716;16037825;16234278;16344560;16531551;16642435;16710414;16868559;17046979;17164343;17164409;17178985;17213252;17284928;17393462;17435760;17592301;17599094;17620097;17697637;17763411;17907925;18005730;18063752;18080732;18084703;18174231;18175851;18189199;18263599;18311798;18576390;18719602;18772453;19001869;19058789;19098911;19120479;19120481;19158675;19201894;19223160;19254587;19319132;19337385;19364881;19414800;19454352;19570822;19579027;19648107;19767079;19784369;19805629;19811501;19824913;19826485;19890791;19913121;20002790;20008285;20011700;20031576;20038581;20060594;20131254;20131270;20135584;20148899;20179743;20182451;20237496;20368800;20370570;20384614;20401456;20401526;20403135;20407038;20421639;20502346;20506209;20628086;20668705;20688930;20800603;20808838;20884650;20962258;20980503;21035374;21051542;21058222;21109514;21124315;21124859;21217695;21241317;21245836;21300955;21315400;21342182;21394384;21421008;21451572;21508263;21550598;21560198;21566220;21621776;21637346;21646297;21876553;21880711;21930705;21940629;21940680;21971358;21978001;21994456;22102247;22112657;22128899;22146561;22227418;22227487;22276187;22295065;22325453;22403613;22461501;22490866;22497426;22503597;22522430;22524199;22529966;22541070;22558425;22608495;22698681;22723549;22768094;22796220;22843550;22904305;22933232;22933241;22935299;22948162;22981536;22984081;22984082;22997256;23015306;23066025;23086037;23110140;23171454;23206693;23209696;23211828;23221073;23254930;23264657;23271661;23280543;23315075;23375846;23382313;23399110;23427152;23430110;23434541;23440695;23462287;23505242;23530046;23549611;23563199;23567555;23582325;23588528;23614732;23633957;23686720;23737748;23738518;23815151;23825667;23838163;23840644;23843215;23871209;23884315;23911403;23937860;23954133;23969696;23973727;23977231;23980097;24008734;24012762;24013717;24041971;24048902;24098386;24118105;24121974;24135410;24144834;24158955;24166187;24223129;24244322;24295199;24470197;24478101;24501247;24572449;24840700;24965773;9653160 114548 Q96P20 AB120959;AB120960;AB120961;AB120962;AB208891;ABBA01031787;ABBA01031788;AC104335;AF054176;AF410477;AF418985;AF420469;AF427617;AF468522;AK027194;AK314998;AL601856;AL606804;AMYH02003132;AMYH02003133;AY051112;AY051117;AY092033;AY422168;BC117211;BC143359;BC143362;BC143363;CH471148;DA244290;NG_007509;NM_001079821;NM_001127461;NM_001127462;NM_001243133;NM_004895;NM_183395;XM_005273036;XM_005273037;XM_005273038;XM_006711733 AAC39910;AAI17212;AAI43360;AAI43363;AAI43364;AAL12497;AAL12498;AAL14640;AAL33908;AAL33911;AAL65136;AAL78632;AAM14669;AAQ98889;BAD51451;BAD51452;BAD51453;BAD51454;BAD92128;BAG37494;EAW77183;EAW77184;EAW77185;EAW77186;EAW77187;NP_001073289;NP_001120933;NP_001120934;NP_001230062;NP_004886;NP_899632;Q96P20;XP_005273093;XP_005273094;XP_005273095;XP_006711796 Hs.159483 1336367;2186952 D1S2215;SHGC-76649 AII;AII/AVP;AVP;C1orf7;CIAS1;CLR1.1;FCAS;FCU;FLJ95925;MWS;NALP3;PYPAF1 AGTAVPRL;AII/AVP receptor-like;NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3;NACHT, LRR and PYD containing protein 3;NACHT, LRR and PYD domains-containing protein 3;OTTHUMP00000038408;OTTHUMP00000038409;OTTHUMP00000038410;OTTHUMP00000038411;OTTHUMP00000230825;PYRIN-containing APAF1-like protein 1;angiotensin/vasopressin receptor AII/AVP-like;caterpiller protein 1.1;cold autoinflammatory syndrome 1;cryopyrin;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 APPROVED protein-coding ENSG00000162711 HGNC:16400 05915 120100;191900;606416;607115 REVIEWED 1642401 NME1-NME2 NME1-NME2 readthrough This locus represents naturally occurring read-through transcription between the neighboring NME1 and NME2 genes. The significance of this read-through transcription and the function of the resulting protein product have not yet been determined. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2010] 17 17 17 q21.3 45692176 45710358 + 49230897 49249105 + 51153536 51171744 + 6480464;6907045 11181995;11919189;12477932;16442775;16862176;17314099;17353931;18029348;1851158;20101217;20639865;20877624;20881960;20967262;21139048;21890473;21906983;21963094;21987572;21988832;22053931;22505724;22863883;23000965;8392752 654364 F6XY72;P22392;Q32Q12 ABBA01041259;AC005839;AK313448;AMYH02033615;BC107894;BC133029;BC133031;BG388883;BI603164;CH471109;DQ109675;NM_001018136;NR_037149 AAI07895;AAI33030;AAI33032;AAZ82097;BAG36237;EAW94563;EAW94565;EAW94566;NP_001018146 Hs.463456 1676111;1694622;1742301;1770127;1851978;2157841 D17S1989;G43341;GDB:196135;RH68986;RH70845;RH80623 FLJ93990;NDK B;NM23-LV;NME2;NMELV;nm23-H2 C-myc purine-binding transcription factor PUF;NDP kinase B;NME1-NME2 readthrough transcript;OTTHUMP00000174725;OTTHUMP00000174726;nucleoside diphosphate kinase B APPROVED protein-coding ENSG00000011052 HGNC:33531 VALIDATED 1353012 NMD3P1 NMD3 ribosome export adaptor pseudogene 1 7 7 7 q11.21 57088181 57089673 - 63369338 63370830 - 63908760 63910561 - 441238 ABBA01027966;AC092634;AMYH02015846;NG_016698 NMD3P APPROVED pseudo HGNC:22672 INFERRED 1346564 NME2 NME/NM23 nucleoside diphosphate kinase 2 Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (NME1) generates naturally-occurring transcripts (NME1-NME2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Nov 2010] 17 17 17 q21.3 45704144 45710358 + 49242796 49249105 + 51165435 51171744 + 1580863;2299058;2299062;2299072;2299076;2299071;2299073;2299060;2299066;5132889;5133414;5132888;5134680;2299081;6480464;6907045 11121795;11768308;12678497;14623877;17272673;7518576;7614395;7693635;7907945;8519661;8621239;8855975;9334657 11042679;11082283;11872741;11919189;11960382;12007505;12009894;12200143;12477932;12486122;12486123;14499630;14976202;15146197;15249197;15489334;15703214;15952740;16169070;16862176;17163575;17314099;17353931;17532299;17964137;18029348;18496563;1851158;18535780;19022560;19199708;19381785;19619546;19638341;19852809;1988104;20309963;20830314;20864512;20877624;20881960;21085602;21139048;21504894;21890473;21906983;21963094;21987572;21988832;22053931;22192927;22251158;22421058;22505724;22939629;23000965;23068103;23368879;23383273;23438482;23576398;23898208;24654937;24816145;24970086;25036637;2509941;7488060;7658474;7685630;7768941;7821789;8245015;8270257;8381224;8392752;8406509;8529641;8645210;8747457;8858107;8889548;9480811;9925751 4831 J3KPD9;P22392;Q6FHN3 ABBA01041259;AC005839;AMYH02033615;BC002476;BC095458;BE501156;BF034471;BF058708;BM556410;BT007045;CA307456;CB242387;CH471109;CK023920;CN267160;CR541718;D28391;DB454073;EU794639;L16785;M36981;NM_001018137;NM_001018138;NM_001018139;NM_001198682;NM_002512;U29200;X58965 AAA36369;AAA60228;AAA86745;AAH02476;AAH95458;AAP35694;ACJ13693;BAA05757;CAB37870;CAG46519;EAW94564;EAW94567;NP_001018147;NP_001018148;NP_001018149;NP_001185611;NP_002503;P22392 Hs.463456 1676111;1694622;1851978 G43341;RH70845;RH80623 HEL-S-155an;MGC111212;MGC2212;NDK B;NDKB;NDPK-B;NDPKB;NM23-H2;NM23B;PUF C-myc purine-binding transcription factor PUF;NDP kinase B;OTTHUMP00000174727;OTTHUMP00000174728;OTTHUMP00000174774;OTTHUMP00000174775;OTTHUMP00000174776;c-myc transcription factor;epididymis secretory sperm binding protein Li 155an;histidine protein kinase NDKB;non-metastatic cells 2, protein (NM23) expressed in;non-metastatic cells 2, protein (NM23B) expressed in;nucleoside diphosphate kinase B;nucleotide diphosphate kinase B APPROVED protein-coding ENSG00000011052;ENSG00000243678 HGNC:7850 01132 156491 VALIDATED 1319070 NLRP9 NLR family, pyrin domain containing 9 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 53262092 53294502 - 56219798 56249768 - 55708432 55738402 - 1580863;6480464;8554872 12477932;12563287;12766759;20403135;23377640 338321 Q7RTR0 ABBA01020858;ABBA01020859;AC008749;AMYH02036474;AMYH02036475;AMYH02036476;AY154464;BC136583;BK001114;CH471135;KC877756;KC877758;NM_176820;XM_005258848 AAI36584;AAO18160;DAA01247;EAW72411;EAW72412;NP_789790;Q7RTR0;XP_005258905 Hs.661568 1758445 SHGC-148354 CLR19.1;NALP9;NOD6;PAN12 NACHT, LRR and PYD containing protein 9;NACHT, LRR and PYD domains-containing protein 9;NACHT, leucine rich repeat and PYD containing 9;PYRIN and NACHT-containing protein 12;nucleotide-binding oligomerization domain protein 6;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9 APPROVED protein-coding ENSG00000185792 HGNC:22941 14808 609663 REVIEWED 1354297 NME2P1 NME/NM23 nucleoside diphosphate kinase 2 pseudogene 1 ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); nucleoside diphosphate kinase activity (inferred); INVOLVED IN CTP biosynthetic process (inferred); GTP biosynthetic process (inferred); nucleoside diphosphate phosphorylation (inferred); FOUND IN extracellular vesicular exosome; nucleus; INTERACTS WITH paracetamol; sulforaphane 12 12 12 q24.31 120353054 120353746 + 120720021 120720668 + 120282218 120282865 + 1580863;6480464 21906983;22304920;23862649;24816145;7488060;8270257 283458 O60361 ABBA01020104;AC004263;AMYH02027367;CB993665;NG_027861;U85976 AAC05177;O60361 Hs.577804 1676111;1694622;1851978 G43341;RH70845;RH80623 APPROVED pseudo HGNC:31358 INFERRED 1343010 NME5 NME/NM23 family member 5 ENCODES a protein that exhibits ATP binding (inferred); nucleoside diphosphate kinase activity (inferred); INVOLVED IN spermatid development (ortholog); PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; FOUND IN sperm flagellum (inferred); INTERACTS WITH valproic acid; 1,2,4-trimethylbenzene (ortholog); 17alpha-ethynylestradiol (ortholog) 5 5 5 q31 133572789 133596436 - 137450861 137475132 - 138115172 138139443 - 1580863;6480464;6907045 12477932;14499630;15489334;16189514;19447967;19852809;22564704;8889548;9742940 8382 P56597 ABBA01068692;ABBA01068693;ABBA01068694;ABBA01068695;ABBA01068696;AC113382;AF067724;AK312181;AMYH02012280;AMYH02012281;AMYH02012282;AMYH02012283;BC026182;BM979998;BX490554;CH471062;NM_003551;U90450;XM_005272098;XM_005272099;XM_006714716;Y14992 AAC64358;AAC69440;AAH26182;BAG35114;CAA75226;EAW62163;EAW62164;NP_003542;P56597;XP_005272155;XP_005272156;XP_006714779 Hs.730856 1673296;1681107;2107897;5124889 BRD8_7982;RH48032;RH93343;RH99254 NM23-H5;NM23H5;RSPH23 IPIA-beta;NDK-H 5;NDP kinase homolog 5;OTTHUMP00000159495;inhibitor of p53-induced apoptosis-beta;non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase);nucleoside diphosphate kinase homolog 5;radial spoke 23 homolog;testis-specific nm23 homolog APPROVED protein-coding ENSG00000112981 HGNC:7853 04655 603575 VALIDATED 733959 NME7 NME/NM23 family member 7 ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); nucleoside diphosphate kinase activity (inferred); INVOLVED IN brain development (inferred); ciliary receptor clustering involved in smoothened signaling pathway (inferred); CTP biosynthetic process (inferred); PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; ASSOCIATED WITH Arrhythmias, Cardiac (inferred); Cardiac Complexes, Premature (inferred); Lung Neoplasms (inferred); FOUND IN centrosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; afimoxifene 1 1 1 q24 142211825 142446965 - 169101258 169337186 - 169132020 169367963 - 1580863;6480464;6907045;8554872 11329013;11768308;12477932;14702039;15161933;15489334;16189514;16710414;17363702;19064610;19240061;19536175;19852809;20379614;21135143;21139048;21502573;21890473;21980494;21988832;22672568;22797925;23000965;23443559;24255178 29922 B4DXC8;E9PNU1;Q9Y5B8 AB209049;ABBA01027953;ABBA01027954;AF153191;AK094513;AK290701;AK301917;AL031726;AL356852;AMYH02002111;AMYH02002112;BC006983;BG204249;CD107958;CH471067;NM_013330;NM_197972;NR_104229;XM_005245106;Z99758 AAD34622;AAH06983;BAD92286;BAF83390;BAG52881;BAG63340;EAW90834;EAW90835;EAW90836;NP_037462;NP_932076;Q9Y5B8;XP_005245163 Hs.706952 1703812;1771213;5015603;5017566 AL010073;ATP1B1;D11S2951;SHGC-78952 CFAP67;FLJ37194;MN23H7;NDK 7;NDK7;nm23-H7 NDP kinase 7;OTTHUMP00000032536;OTTHUMP00000231077;OTTHUMP00000231078;cilia and flagella associated protein 67;non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase);nucleoside diphosphate kinase 7;nucleoside-diphosphate kinase 7 APPROVED protein-coding ENSG00000143156 HGNC:20461 11394 613465 VALIDATED 1351445 NME9 NME/NM23 family member 9 ENCODES a protein that exhibits ATP binding (inferred); nucleoside diphosphate kinase activity (inferred); INVOLVED IN cell redox homeostasis (inferred); CTP biosynthetic process (inferred); GTP biosynthetic process (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH PhIP; 1,2,4-trimethylbenzene (ortholog); 17alpha-ethynylestradiol (ortholog) 3 3 3 q22.3 136405167 136473614 - 137980279 138049018 - 138261437 138330176 - 1580863;6480464 12477932;12569107;14702039;14713334;16236267;18753468;19852809;21116278;23311631 347736 C9JPM2;C9JXP5;F8WDB2;H7C5P8;Q3KNW3;Q86XW9 ABBA01059094;AC022337;AC068777;AF196568;AK094830;AMYH02007768;AY336746;BC107054;CH471052;NM_178130;XM_005247429;XM_005247430;XM_006713615;XM_006713616 AAG28497;AAI07055;AAQ16116;BAC04430;EAW79073;EAW79074;NP_835231;Q86XW9;XP_005247486;XP_005247487;XP_006713678;XP_006713679 Hs.660992 1650421;1684840;1735324;2114535;2168847;2168849 A005Y32;D3S2952E;G20601;G31439;RH11764;STS-H73237 MGC129586;NM23-H9;TXL-2;TXL2;TXNDC6 NME family member 9;NME gene family member 9;OTTHUMP00000216650;OTTHUMP00000216651;OTTHUMP00000216652;OTTHUMP00000216653;OTTHUMP00000216913;thioredoxin domain containing 6;thioredoxin domain-containing protein 6;thioredoxin-like 2;thioredoxin-like protein 2 APPROVED protein-coding ENSG00000181322 HGNC:21343 18250 PROVISIONAL 1318408 NME4 NME/NM23 nucleoside diphosphate kinase 4 The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008] 16 16 16 p13.3 647739 651301 + 446752 450754 + 396755 400754 + 1580863;5134680;6480464;6907045 11768308 10799505;11157797;11831846;12477932;14702039;15342556;15489334;15616553;16189514;16712791;18604718;19852809;20186120;20811636;20877624;21139048;21988832;22990118;23150663;23275563;23446634;23455924;23473034;24457600;24970086;8889548;9099850 4833 A2IDC9;F2Z297;F2Z2X0;H0Y6J0;O00746;Q4TT34 ABBA01030374;ABBA01030375;AE006463;AF086133;AK094439;AMYH02031192;AMYH02031193;AMYH02031194;BC004880;BC017067;BE266496;BG472605;BP328820;BQ650649;BQ932845;BT019438;CB143020;CF126980;CH471112;HY182358;NM_001286433;NM_001286435;NM_001286436;NM_001286438;NM_001286439;NM_001286440;NM_005009;Y07604;Z97634 AAH04880;AAH17067;AAK61230;AAV38245;ADZ15844;CAA68877;EAW85817;EAW85818;EAW85819;EAW85820;NP_001273362;NP_001273364;NP_001273365;NP_001273367;NP_001273368;NP_001273369;NP_005000;O00746 Hs.9235 1712072;1807090;1807354;1807356;1813464;2049352;2049354;2049356;2049358;2049360;2049362;2049364;2049366;2049368;2049370;2049372;2049374;2049376;2049378;2049380;2049382;2049384;2049386;2049388;2049390;2049392;2049394;2049396;2104744;2104746;2151594;5115107 ECD04510;ECD04648;ECD04649;ECD07753;G06857;G54084;REN95820;REN95821;REN95822;REN95823;REN95824;REN95825;REN95826;REN95827;REN95828;REN95829;REN95830;REN95831;REN95832;REN95833;REN95834;REN95835;REN95836;REN95837;REN95838;REN95839;REN95840;REN95841;REN95842;RH70775;stSG609096;stSG609097 NDK;NDPK-D;NDPKD;NM23H4;nm23-H4 NDP kinase D;NDP kinase, mitochondrial;OTTHUMP00000045639;OTTHUMP00000067466;OTTHUMP00000194917;OTTHUMP00000194919;OTTHUMP00000206530;non-metastatic cells 4, protein expressed in;nucleoside diphosphate kinase D;nucleoside diphosphate kinase, mitochondrial APPROVED protein-coding ENSG00000103202 HGNC:7852 03489 601818 VALIDATED 733554 NME3 NME/NM23 nucleoside diphosphate kinase 3 ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); nucleoside diphosphate kinase activity (inferred); INVOLVED IN apoptotic process (inferred); CTP biosynthetic process (inferred); GTP biosynthetic process (inferred); PARTICIPATES IN de novo pyrimidine biosynthetic pathway; purine metabolic pathway; pyrimidine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (+)-catechin; (S)-nicotine; 17beta-estradiol 16 16 16 q13.3 2032596 2033985 - 1820321 1821743 - 1770320 1771725 - 1580863;1300048;5134680;6480464;6907045;8554872 11768308 11042679;11157797;11277919;12477932;15489334;16169070;16189514;16537434;16713569;17900511;19852809;20877624;21139048;21832049;21890473;21988832;23765094;24457600;7638209;9067290 4832 H3BMQ7;H3BPD9;H3BPR2;H3BRA8;Q13232 ABBA01030296;AC012180;AE006639;AK308663;AL031718;AMYH02031235;BC000250;BG911570;CH471112;NM_002513;U29656;XM_005255332 AAA85097;AAH00250;AAK61291;ABM83441;ABW03498;CAB72319;EAW85629;NP_002504;Q13232;XP_005255389 Hs.514065 1796354;2117786;2180351;2220256 AB071076;MRPS34_1407;RH36357;SHGC-64938 DR-nm23;KIAA0516;NDK 3;NDPK-C;NDPKC;NM23-H3;NM23H3;c371H6.2 NDP kinase 3;NDP kinase C;OTTHUMP00000158800;non-metastatic cells 3, protein expressed in;nucleoside diphosphate kinase 3;nucleoside diphosphate kinase C APPROVED protein-coding ENSG00000103024 HGNC:7851 03488 601817 VALIDATED 1604057 NME6 NME/NM23 nucleoside diphosphate kinase 6 Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010] 3 3 3 p21 48285973 48293245 - 48335485 48343719 - 48289575 48302229 - 5134680;6480464;6907045 11768308 10453732;10618642;12477932;15489334;19852809;20877624;21832049;21988832;8125298 10201 C9J1J2;C9J867;C9J9V6;C9JQB1;F2Z2J2;O75414 ABBA01024652;AC105267;AF051941;AK222555;AK294809;AK297364;AK308970;AMYH02006715;BC001808;BC012828;CH471055;NM_005793;U90449;XM_005264789;XM_005264790;XM_005264792;XM_005264793;XM_005264794;XM_006712921;XR_245088 AAC69439;AAC78463;AAH01808;AAH12828;ABM83209;ABM86409;BAD96275;BAG57928;BAG59811;EAW64861;NP_005784;O75414;XP_005264846;XP_005264847;XP_005264849;XP_005264850;XP_005264851;XP_006712984 Hs.465558 1669700;2163796;5015961 D15S1477;SHGC-76947;WI-14083 IPIA-ALPHA;NDK 6;NM23-H6 NDP kinase 6;OTTHUMP00000164810;OTTHUMP00000210736;OTTHUMP00000210737;OTTHUMP00000210738;OTTHUMP00000210741;OTTHUMP00000210742;OTTHUMP00000210743;OTTHUMP00000210744;OTTHUMP00000210745;inhibitor of p53-induced apoptosis-alpha;non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase);nucleoside diphosphate kinase 6 APPROVED protein-coding ENSG00000172113 HGNC:20567 09219 608294 PROVISIONAL 1349817 NMNAT1P1 NMNAT1 pseudogene 1 14 14 14 q31.1 61538715 61539781 + 81498819 81499885 + 81032475 81033541 + 326607 ABBA01030613;AC007262;AMYH02029622;NG_002596;NG_009206 NMNATP APPROVED pseudo HGNC:20024 INFERRED 7381347 NMNAT1P3 NMNAT1 pseudogene 3 3 3 3 q28 188313177 188314042 + 189884553 189885418 + 190166764 190167629 + 391603 ABBA01058330;AC067718;AMYH02008403;NG_022286 pseudo HGNC:49165 INFERRED 7375938 NMNAT1P2 NMNAT1 pseudogene 2 1 1 1 q23.3 137417432 137418277 + 164312242 164313087 + 164343005 164343850 + 100129160 ABBA01047290;AL357512;AMYH02002055;NG_022814 pseudo HGNC:49164 INFERRED 1322215 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014] 1 1 1 p36.22 9114519 9156598 + 10003486 10045556 + 9943428 9985498 + 1580863;6480464;6907045;7240710;8554872;8699517 11027696;11248244;11751893;11752792;11788603;11891043;11959140;12359228;12477932;12574164;12734549;14516279;14702039;14704851;15342556;15489334;16118205;17081983;17360427;17402747;18344983;19273075;19403820;19458223;19478080;19913121;20301475;20379614;20388704;20457531;20628086;20926655;20954240;21071441;21139048;21517775;21517776;21596138;21832049;21988832;22058226;22174317;22334709;22842227;22842229;22842230;22842231;23351689;23737528;23940504;23968695;24722188;24940029;8125298 64802 B1AN62;K7EPD7;Q9HAN9 ABBA01035576;ABBA01035577;ABBA01035578;ABBA01035579;ABBA01035580;ABBA01035581;ABBA01035582;AF088049;AF312734;AF314163;AF459819;AF459823;AI247931;AK026065;AK222920;AK315640;AL357140;AL603962;AMYH02000258;AMYH02000259;BC014943;BC032483;BG751629;BP309588;BP339298;BU948893;CH471130;CS300603;CS463828;JB275311;NG_032954;NM_001297778;NM_001297779;NM_022787;XM_005263489;XM_006710824;XR_244792 AAG33629;AAG33632;AAH14943;AAL76934;AAL76935;ADZ15720;BAB15345;BAD96640;BAG38007;CAK32267;CAM12697;CDH92521;EAW71635;EAW71636;NP_001284707;NP_001284708;NP_073624;Q9HAN9;XP_005263546;XP_006710887 Hs.633762 1336052;1341819;1663418;2122651;2153290;5014019;5016478;5016596;5020946;5022578;5037552;5094860;7185172 D1S1423;D1S1597;D1S2667;D1S3281;D5S2354;D8S2279;G34803;GDB:434012;GDB:631802;L17971;NMNAT1;SHGC-57613 LCA9;NMNAT;PNAT1 Leber's congenital amaurosis 9;NMN adenylyltransferase 1;NaMN adenylyltransferase 1;OTTHUMP00000001731;OTTHUMP00000001732;OTTHUMP00000035892;nicotinamide mononucleotide adenylyltransferase 1;nicotinate-nucleotide adenylyltransferase 1;pyridine nucleotide adenylyltransferase 1 APPROVED protein-coding ENSG00000173614 HGNC:17877 16369 608553;608700 REVIEWED 7377976 NMNAT1P4 NMNAT1 pseudogene 4 4 4 4 q31.21 143704694 143705527 + 146377157 146377990 + 145456005 145456838 + 100132841 ABBA01070030;AC093796;AMYH02010254;NG_022084 pseudo HGNC:49166 INFERRED 7377975 NMNAT1P5 NMNAT1 pseudogene 5 15 15 15 q22.2 37145132 37146269 + 60257141 60258278 + 59964942 59966079 + 100129256 ABBA01038955;AC009654;AMYH02030549;NG_022131 pseudo HGNC:49167 INFERRED 1344206 NME8 NME/NM23 family member 8 This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009] 7 7 7 p14.1 37872948 37924718 + 37887930 37940003 + 37848597 37900401 + 1580863;6480464;7240710;8554872;8699517 11574167;11737268;11768308;12477932;15489334;16642435;17304710;17360648;18029348;18471322;19852809;20237151;20301301;20379614;21832049;22504420;24162737 51314 C9JG62;C9JIT0;F8WEA2;Q8N427 ABBA01056920;ABBA01056921;AC018634;AF202051;AF305596;AK313599;AMYH02015548;BC036816;CH236951;CH471073;KF459645;NG_015893;NM_016616 AAF20909;AAH36816;AAN04258;ADZ15459;BAG36365;EAW94083;EAW94084;NP_057700;Q8N427 Hs.723454 1664222 D7S1542 CILD6;NM23-H8;SPTRX2;TXNDC3;sptrx-2 OTTHUMP00000128304;OTTHUMP00000207133;sperm-specific thioredoxin 2;spermatid-specific thioredoxin-2;thioredoxin domain containing 3 (spermatozoa);thioredoxin domain-containing protein 3 APPROVED protein-coding ENSG00000086288 HGNC:16473 16243 607421;610852 REVIEWED 1323327 NMI N-myc (and STAT) interactor NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq, Jul 2008] 2 2 2 q23 145741245 145760697 - 152126982 152146430 - 151270468 151289916 - 1580863;6480464 10574616;10597290;10779520;10950963;11911807;11916966;12019454;12477932;14702039;15231747;15489334;15558034;15815621;15996661;16189514;16214168;16712791;16919237;17197158;17406968;17565738;18029348;18051367;18794094;18950845;19240718;19358268;20211142;20237496;21890473;21963094;21988832;22505724;22863883;22939629;23034180;23455924;23956435;25015289;8668343;9781816;9989503 9111 C9JW17;Q13287;Q8WTW2 AB451305;AB451436;ABBA01004765;ABBA01004766;AC009311;AK124323;AK291548;AK298754;AMYH02004977;BC001268;BC021987;CB151555;CH471058;EF036506;NM_004688;U32849;XM_005246941 AAC12949;AAH01268;AAH21987;AAY15066;ABO65092;BAF84237;BAG60896;BAG70119;BAG70250;EAX11513;NP_004679;Q13287;XP_005246998 Hs.54483 1777070 RH70601 N-myc interactor;N-myc-interactor;OTTHUMP00000162693 APPROVED protein-coding ENSG00000123609 HGNC:7854 04632 603525 REVIEWED 1603207 NMRAL1 NmrA-like family domain containing 1 FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 3-methylcholanthrene; atrazine; copper(2+) sulfate 16 16 16 p13.3 4720601 4733802 - 4511690 4524896 - 4461689 4474895 - 6480464 12477932;15489334;15616553;17100653;17207965;17496144;18029348;18263583;19027726;19254724;19433587;19843583;21139048;21890473;21906983;21963094;21988832;22348310;23527155;24711370;24763515;24816145;24832601 57407 I3L0Y6;I3L1Q7;I3L1Y8;I3L2U0;I3L3I6;I3L3Z0;I3L543;Q9HBL8 ABBA01026776;AC007606;AC012676;AF225419;AK098784;AMYH02031325;BC002927;BC007364;CH471112;NM_020677;XM_005255446;XM_005255447;XM_006720905;XM_006720906;XM_006725236;XM_006725237;XM_006725238;XM_006725239 AAG09721;AAH02927;AAH07364;ADQ31843;EAW85301;EAW85302;NP_065728;Q9HBL8;XP_005255503;XP_005255504;XP_006720968;XP_006720969;XP_006725299;XP_006725300;XP_006725301;XP_006725302 Hs.288969 1680809 RH91162 FLJ25918;HSCARG;SDR48A1 OTTHUMP00000159842;nmrA-like family domain-containing protein 1;short chain dehydrogenase/reductase family 48A, member 1 protein-coding ENSG00000153406 HGNC:24987 13678 PROVISIONAL 1343469 NMRK1 nicotinamide riboside kinase 1 Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM, Mar 2008] 9 9 9 q21.13 48253604 48280619 - 77676116 77703133 - 75060577 75088324 - 737633;6480464 12477932 14702039;15137942;15164053;15489334;16712791;17698003;21832049;24250222 54981 B3KN26;Q5W125;Q9NWW6 ABBA01033893;AK000566;AK023413;AK097144;AL133548;AMYH02021010;AY611480;BC001366;BC026243;BC036804;CB135264;CH471089;CS463838;NM_001127603;NM_017881;NR_023352;XM_006717162;XM_006717163;XM_006717164;XM_006717165 AAH01366;AAH36804;AAT11928;BAA91259;BAG51188;BAG53425;CAM12700;EAW62568;EAW62569;NP_001121075;NP_060351;Q9NWW6;XP_006717225;XP_006717226;XP_006717227;XP_006717228 Hs.494186 1690119;2136542;5022651 D11S2921;RH92813;SHGC-32283 C9orf95;FLJ20559;NRK 1;NRK1;RNK 1;RP11-235O14.2;bA235O14.2;nmR-K 1 OTTHUMP00000021493;OTTHUMP00000021494;OTTHUMP00000021495;nicotinic acid riboside kinase 1;ribosylnicotinamide kinase 1;ribosylnicotinic acid kinase 1 APPROVED protein-coding ENSG00000106733 HGNC:26057 09868 608704 VALIDATED 1604755 NMS neuromedin S INVOLVED IN neuropeptide signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 8-bromo-3',5'-cyclic AMP (ortholog); ammonium chloride (ortholog) 2 2 2 q11.2 95291564 95304362 + 101086944 101099742 + 100470482 100483280 + 6480464;8554872 10899166;15635449;16754659;17870195;18987052;19519756;20468064 129521 Q5H8A3 AB164464;ABBA01073932;AC068538;AMYH02004413;NM_001011717 AAI48627;AAI53191;BAD89024;NP_001011717;Q5H8A3 Hs.567676 OTTHUMP00000203207;neuromedin-S;prepro-NMS protein-coding ENSG00000204640 HGNC:32203 17638 VALIDATED 735393 NME1 NME/NM23 nucleoside diphosphate kinase 1 This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 45692176 45700706 + 49230920 49239450 + 51153559 51162089 + 1580863;1600229;2299059;2299061;2299064;2299063;2299062;2299081;2299072;2299071;2299069;2299065;2299077;2299066;5133414;5132867;5132887;5134680;5133245;6480464;6484113;6907045;7240710;8699517 11768308;12678497;14559858;17492507;7518576;7614395;7622307;8047138;8102131;8519661;8605098;8618340;8621239;8636741;8855975;8978595;9036878;9663430 10512675;10602478;10611312;10618642;11042679;11231635;11274357;11280768;11319942;11555662;11687967;11726210;11776896;11835509;11918081;11919189;11935309;11960382;11963831;11998956;12007505;12105213;12135660;12137595;12163590;12174914;12200143;12405283;12452062;12474051;12477932;12490715;12524539;12601555;12624546;12628186;12669312;12684753;12859952;12883690;12910292;12972261;14499630;14558955;14664140;14960567;15040016;15073128;15129904;15280446;15334673;15489334;15512982;15568401;15592684;15645378;15650182;15684389;15757202;15777972;15833843;15870434;15882758;16011248;16044917;16130169;16189514;16196087;16232196;16277028;16313181;16317582;16415009;16466905;16531762;16631833;16739125;16739379;16759016;16814409;16848180;16862176;16891807;16944571;16957985;17008916;17103045;17155928;17197349;17283532;17314099;17348207;17359290;17578003;17591363;17655525;17688968;17695492;17885583;17918157;17975005;18029348;18058029;18089805;18154714;18219290;18239814;18301251;18307927;18330957;18408655;18440302;18457437;18470881;18476632;1851158;18635542;18668641;18676749;18700747;18728402;18781797;18810774;18815136;18996649;19024519;19026164;19060904;19170058;19183483;19186179;19263457;19332021;19513384;19615732;19619546;19624895;19655221;19664043;19664078;19724852;19852809;19946888;19951590;19956735;20099494;20101217;20113651;20145075;2015608;20209495;20301782;20304626;20403806;20448457;20508983;20559153;20560137;2056128;20570897;20599259;20639865;20671611;20713695;20841469;20872186;20877624;20955383;20959063;21045303;21080107;21081666;21085602;21121676;21139048;21169412;21176535;21221850;21265090;21270158;21273640;21350102;21442621;21448569;21469425;21478336;21484438;21553004;21575865;21769563;21846466;21890473;21906983;21913743;21963094;21987572;21988832;22035418;22053931;22268729;22290468;22328561;22349375;22364921;22421058;22429576;22451184;22505724;22531683;22683585;22718351;22863883;22869372;22903495;22920000;22939629;23000965;23137649;23158994;23443559;23448979;23464856;23479363;23519676;23553196;23583378;23679306;23694823;23725501;23734265;23768014;23818346;23856325;24133580;24337577;24457600;24583282;24654937;24811176;24816145;24970086;2509941;2566996;7916650;8245015;8270257;8392752;8395939;8810265;8858107;9480811;9488696;9513729;9593706 4830 C9K028;E5RHP0;E7ERL0;P15531 ABBA01041259;AC005839;AF487339;AK291105;AK309160;AL360166;AL360191;AMYH02033615;BC000293;BC018994;BE727815;BF965472;BG531372;BG715560;BG757842;BI666785;BM479520;BU600979;CH471109;CR542104;CR542115;NG_021169;NM_000269;NM_198175;X17620;X73066;X75598 AAH00293;AAH18994;AAO85436;BAF83794;CAA35621;CAA51527;CAA53270;CAG46901;CAG46912;EAW94568;NP_000260;NP_937818;P15531 Hs.463456 1742301;1770127;2157841 D17S1989;GDB:196135;RH68986 AWD;GAAD;NB;NBS;NDK A;NDKA;NDPK-A;NDPKA;NM23;NM23-H1 NDP kinase A;OTTHUMP00000174723;OTTHUMP00000174724;OTTHUMP00000174772;OTTHUMP00000224223;expressed in non-metastatic cells 1;granzyme A-activated DNase;metastasis inhibition factor nm23;non-metastatic cells 1, protein (NM23A) expressed in;nucleoside diphosphate kinase A;tumor metastatic process-associated protein APPROVED protein-coding ENSG00000239672 HGNC:7849 01131 156490;256700 REVIEWED 1344874 NMRK2 nicotinamide riboside kinase 2 ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); ribosylnicotinamide kinase activity (inferred); INVOLVED IN NAD biosynthetic process (inferred); negative regulation of myoblast differentiation (inferred); phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; copper(2+) sulfate 19 19 19 p13.3 3870565 3879557 + 3933101 3942414 + 3933103 3942416 + 1580863;6480464;8554872 10613898;12477932;12809483;12941630;14702039;15137942;15489334;16169070;21832049;21900206;8889548 27231 M0QX67;M0R0T8;Q9NPI5 ABBA01002858;ABBA01002859;AC011488;AF190819;AK001663;AK022514;AL365377;AMYH02035265;AMYH02035266;AY611481;BC093637;BC101575;BC143329;BM669267;BM717225;CH471139;CS463840;NM_001289117;NM_170678;NR_110316;XM_006722725;XM_006722726 AAF26711;AAH93637;AAI01576;AAI43330;AAT11929;BAA91820;BAB14071;CAB96949;CAM12701;EAW69277;EAW69278;EAW69279;NP_001276046;NP_733778;Q9NPI5;XP_006722788;XP_006722789 Hs.135458 2144879;2180694 Bda65a12;RH41947 ITGB1BP3;MGC126624;MIBP;NRK 2;NRK2;RNK 2;nmR-K 2 integrin beta 1 binding protein 3;integrin beta-1-binding protein 3;muscle integrin-binding protein;muscle-specific beta 1 integrin binding protein;nicotinic acid riboside kinase 2;ribosylnicotinamide kinase 2;ribosylnicotinic acid kinase 2 APPROVED protein-coding ENSG00000077009 HGNC:17871 16371 608705 VALIDATED 1352076 NMT1 N-myristoyltransferase 1 Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008] 17 17 17 q21.31 39847803 39895537 + 43138322 43186384 + 45061032 45109016 + 1580863;6480464;8554872 10074105;10196310;10339411;10625670;10718634;10734119;11099414;11302743;11423543;11463741;11594778;12220649;12244217;12414990;12477932;12767222;14699046;14707265;15156568;15280532;15302935;1530946;15489334;15613341;1570339;16123142;16183191;16216583;16306631;16475823;16501079;16530191;16964243;17081983;17188710;17261081;17411366;17549352;18021392;18029348;18089753;18187620;18248763;19403686;20379614;21139048;21449607;2153964;21653836;21890473;21906983;2194551;21963094;22113938;22190034;22863883;23000965;23184449;2405382;2692561;2737204;2788277;3917576;7512951;7521919;7527558;8139035;8360179;8576268;8619474;8970978;9110174;9261380;9299393;9353336;9506952;9677304;9971769 4836 B7Z8J4;K7EN42;K7EN82;P30419 ABBA01028328;ABBA01028329;ABBA01028330;ABBA01028331;AC002117;AC116493;AF020500;AF043324;AK291936;AK303517;AMYH02033509;BC006538;BC006569;BC007258;BC008312;BC008579;BC109226;CH471178;KC877659;M86707;NM_021079;U79285;XM_005257421;XM_005257422;Y17208;Y17209 AAB95316;AAC09294;AAH06538;AAH06569;AAH07258;AAH08312;AAH08579;AAI09227;BAF84625;BAH13980;CAA76684;CAA76685;CAA76686;EAW51553;EAW51554;EAW51555;EAW51556;EAW51557;NP_066565;P30419;XP_005257478;XP_005257479 Hs.532790 1648955;1661466;1736662;2108311;2118745;2119816;2149045;5491521 D17S1494E;MARC_16857-16858:1015861084:3;NMT1_8508;RH66609;RH70326;SHGC-34291;STS-M86707;WI-13574 NMT;NMT 1 alternative, short form NMT-S;glycylpeptide N-tetradecanoyltransferase 1;long form, NMT-L;myristoyl-CoA:protein N-myristoyltransferase 1;peptide N-myristoyltransferase 1;type I N-myristoyltransferase APPROVED protein-coding ENSG00000136448 HGNC:7857 01187 160993 PROVISIONAL 2300455 NMTRL-TAA2-1 nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 2-1 2 2 q14.1 117781417 117781491 + 117023841 117023915 + 18984615 100189522 AC012365;AMYH02004627;HG984163;NG_008580 TRNAL46P APPROVED pseudo HGNC:35097 INFERRED 2300457 NMTRL-TAA3-1 nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 3-1 1 1 1 q43 211356448 211356522 - 238106956 238107030 - 237943656 237943730 - 18984615 100189520 ABBA01033187;AL590396;AMYH02002996;HG984164;NG_008578;NG_008799 TRNAL45P APPROVED pseudo HGNC:35095 INFERRED 1319314 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 3 3 3 q23 137701933 137819739 - 139279022 139396885 - 139560180 139678043 - 1580863;6480464;6907045 11788603;12477932;12574164;14704851;15489334;16118205;17402747;18344983;19448972;20117162;20388704;20457531;20954240;24155910 349565 D6R975;D6REC8;D6RGG8;D6RGH7;D6RHV4;Q49AL4;Q96T66 AA894638;ABBA01059063;AC046134;AC110716;AF345564;AK123208;AK127477;AMYH02007791;AMYH02007792;AMYH02007793;BC034374;BC036218;BX649063;CH471052;DB454216;NM_001200047;NM_178177;XM_006713624;XM_006713625;XM_006713626;XM_006713627;XM_006713628;XM_006713629 AAH34374;AAH36218;AAK52726;ABM81730;ABM84885;BAG53878;BAG54510;EAW79022;EAW79023;EAW79024;EAW79025;EAW79026;EAW79027;EAW79028;EAW79029;EAW79030;EAW79031;EAW79032;EAW79033;NP_001186976;NP_835471;Q96T66;XP_006713687;XP_006713688;XP_006713689;XP_006713690;XP_006713691;XP_006713692 Hs.208673;Hs.745268 1337368;1688827;1784678;1849386;2150885;5098356 AU049037;D3S2435;RH47682;RH68460;RH80318;SHGC-144684 FKSG76;PNAT-3;PNAT3 NMN adenylyltransferase 3;NaMN adenylyltransferase 3;OTTHUMP00000217131;OTTHUMP00000217133;OTTHUMP00000217134;nicotinamide mononucleotide adenylyltransferase 3;nicotinate-nucleotide adenylyltransferase 3;pyridine nucleotide adenylyltransferase 3 APPROVED protein-coding ENSG00000163864 HGNC:20989 16370 608702 REVIEWED 1316464 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q25 156328478 156498831 - 183217372 183387634 - 183248237 183418499 - 1580863;6480464;6907045;8554872 11318611;12359228;12477932;14516279;14704851;15489334;16118205;16710414;17207965;17402747;18029348;20379614;20388704;20457531;20857515;20943658;20954240;20962850;21832049;22027994;23251661;23579329;23740937;23764899;24840802;7829101;9455484 23057 Q9BZQ4 AB007948;ABBA01027749;ABBA01027750;ABBA01027751;ABBA01027752;AF086038;AF288395;AK291390;AK309461;AL354953;AL356981;AL449223;AMYH02002280;AMYH02002281;AMYH02002282;AMYH02002283;BC016726;BC020998;BC037251;BI493003;CH471067;CS463830;JB275313;NM_015039;NM_170706 AAG60615;AAH20998;ADQ31842;BAA32324;BAF84079;CAM12698;CDH92522;EAW91148;EAW91149;EAW91150;EAW91151;NP_055854;NP_733820;Q9BZQ4 Hs.497123 1666380;1739339;1743831;1761683;2110599;2120396;2128129;2162789;2189489 D18S1370;D6S1383E;GDB:374339;MARC_7499-7500:992008415:1;NIB342;NMNAT2_9300;SHGC-145660;SHGC-75976;SHGC-76014 C1orf15;KIAA0479;MGC2756;PNAT2 NMN adenylyltransferase 2;NaMN adenylyltransferase 2;OTTHUMP00000033548;OTTHUMP00000033549;nicotinamide mononucleotide adenylyltransferase 2;nicotinate-nucleotide adenylyltransferase 2;pyridine nucleotide adenylyltransferase 2 APPROVED protein-coding ENSG00000157064 HGNC:16789 09786 608701 REVIEWED 1349505 NMT2 N-myristoyltransferase 2 N-myristoyltransferase (NMT) catalyzes the reaction of N-terminal myristoylation of many signaling proteins. It transfers myristic acid from myristoyl coenzyme A to the amino group of a protein's N-terminal glycine residue. Biochemical evidence indicates the presence of several distinct NMTs, varying in apparent molecular weight and /or subcellular distribution. The predicted 498-amino acid of human NMT2 protein shares 77% and 96% sequence identity with human NMT1 and mouse Nmt2 comprise two distinct families of N-myristoyltransferases. [provided by RefSeq, Jul 2008] 10 10 10 p13 15076403 15139333 - 15147771 15210703 - 15105770 15168704 - 1580863;6480464;8554872 10074105;10196310;10339411;11302743;11463741;11731439;12244217;12477932;12767222;14699046;14702039;14707265;15164054;15280532;15489334;16123142;16183191;16216583;16306631;16364039;16475823;16501079;16530191;17261081;17568424;18029348;18089753;19403686;19913121;20379614;20628086;21382349;21832049;21900206;2194551;21988832;23184449;2405382;2692561;2737204;2788277;7521919;8139035;8576268;8970978;9261380;9299393;9506952;9971769 9397 B4DXS1;O60551;Q5VUC6;Q5VUC7 ABBA01034594;ABBA01034595;ABBA01034596;ABBA01034597;ABBA01034598;AF043325;AF086423;AK094904;AK123732;AK295277;AK302101;AK315085;AL590365;AMYH02022205;AMYH02022206;AMYH02022207;AMYH02022208;AMYH02022209;BC005232;BC006376;BT007024;CH471072;EF445001;NM_004808;XM_005252642;XM_005252643;XM_006717539 AAC09295;AAH05232;AAH06376;AAP35670;ABM81593;ABM84774;ACA06027;ACA06028;ACA06029;BAG37550;BAG52951;BAG58261;BAG63483;EAW86238;EAW86239;NP_004799;O60551;XP_005252699;XP_005252700;XP_006717602 Hs.60339 1339650;1690003;1701496;1782004;1854437;1854685;2114526;5015404;5016478;5020946;5022463;5024413;5037552;5112017 D10S1168;D10S2335;D3S1673;D8S2279;G44365;GDB:434012;L17705;L17877;L17971;RH104381;RH80462;SHGC-147001;SHGC-57935;STS-AA036785 NMT 2 OTTHUMP00000019188;OTTHUMP00000019189;OTTHUMP00000019190;glycylpeptide N-tetradecanoyltransferase 2;glycylpeptide N-tetradecanoyltransferase 2 variant 3;myristoyl-CoA:protein N-myristoyltransferase 2;peptide N-myristoyltransferase 2;type II N-myristoyltransferase APPROVED protein-coding ENSG00000152465 HGNC:7858 11948 603801 REVIEWED 2300453 NMTRQ-TTG10-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 10-1 13 13 13 q13.3 17706638 17706709 - 36639747 36639818 - 36065610 36065681 - 18984615 100189524 ABBA01021363;AL157694;AMYH02027864;HG984156;NG_008582 TRNAQ50P APPROVED pseudo HGNC:35099 INFERRED 2300502 NMTRQ-TTG1-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 1-1 X X X p11.21 59041824 59041895 + 55206666 55206737 + 55180233 55180304 + 18984615 100189475 AL158819;AMYH02039497;HG984147;NG_008533 TRNAQ40P APPROVED pseudo HGNC:35048 INFERRED 2300476 NMTRQ-TTG11-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 11-1 8 8 8 p12 31820177 31820248 - 32872646 32872717 - 33015128 33015199 - 18984615 100189501 ABBA01023618;AC090204;AMYH02017760;HG984157;NG_008559 TRNAQ43P APPROVED pseudo HGNC:35076 INFERRED 2300652 NMTRL-TAA1-1 nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 1-1 MT 1 1 18984615 100189325 AC097526;HG984162 TRNAL31 APPROVED trna HGNC:34892 2300600 NMTRL-TAA4-1 nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 4-1 MT p11.21 1 1 18984615 100189377 AL158819;HG984165 TRNAL37 APPROVED trna HGNC:34945 2300499 NMTRQ-TTG12-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 12-1 17 17 17 p11.2 16919497 16919568 - 19506587 19506658 - 19603274 19603345 - 18984615 100189478 ABBA01054600;AC025627;AMYH02033169;HG984158;NG_008536 TRNAQ41P APPROVED pseudo HGNC:35051 INFERRED 2300521 NMTRL-TAA6-1 nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 6-1 8 8 8 q11.1 43724331 43724405 - 47740038 47740112 - 46828416 46828490 - 18984615 100189456 ABBA01018439;AC021451;AMYH02017931;HG984167;NG_008513 TRNAL41P APPROVED pseudo HGNC:35027 INFERRED 2300516 NMTRQ-CTG1-1 nuclear-encoded mitochondrial transfer RNA-Gln (CTG) 1-1 10 10 10 p12.31 19722727 19722809 - 20036608 20036682 - 19747679 19747753 - 18984615 100189461 ABBA01034516;AL353147;AMYH02022403;HG984146;NG_008518 TRNAQ38P APPROVED pseudo HGNC:35033 INFERRED 2300442 NMTRQ-TTG13-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 13-1 7 7 7 p11.2 4902 4974 + 57253980 57254051 - 57186273 57186344 - 18984615 100189535 ABBA01028299;AC099654;AMYH02015777;HG984159;NG_008593 TRNAQ52P APPROVED pseudo HGNC:35112 INFERRED 2300514 NMTRP-TGG1-1 nuclear-encoded mitochondrial transfer RNA-Pro (TGG) 1-1 1 1 1 q43 211355354 211355425 + 238105862 238105933 + 237942562 237942633 + 18984615 100189463 ABBA01033187;AL590396;AMYH02002996;HG984168;NG_008520;NG_008799 TRNAP23P APPROVED pseudo HGNC:35035 INFERRED 2300511 NMTRL-TAA5-1 nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 5-1 20 20 20 q13.31 52673669 52673743 - 55933428 55933502 - 57358372 57358446 - 18984615 100189466 ABBA01052924;AL135939;AMYH02037352;HG984166;NG_008524 TRNAL42P APPROVED pseudo HGNC:35038 INFERRED 2300437 NMTRQ-TTG15-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 15-1 4 4 4 q32.1 153715392 153715463 + 156383888 156383959 + 155462736 155462807 + 18984615 100189540 ABBA01070169;AC097526;AMYH02010340;HG984161;NG_008598 TRNAQ54P APPROVED pseudo HGNC:35117 INFERRED 2300461 NMTRQ-TTG2-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 2-1 7 7 7 q34 136224806 136224877 + 141503357 141503428 + 141803557 141803628 + 18984615 100189516 ABBA01034110;AC004979;AMYH02016923;CH236950;HG984148;NG_008574 TRNAQ48P APPROVED pseudo HGNC:35091 INFERRED 2300488 NMTRQ-TTG4-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 4-1 3 3 3 q13.12 105019384 105019456 - 106620878 106620949 - 106902031 106902102 - 18984615 100189489 ABBA01061716;AC063927;AMYH02007378;HG984150;NG_008547 TRNAQ42P APPROVED pseudo HGNC:35062 INFERRED 2300467 NMTRQ-TTG6-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 6-1 12 12 12 q13.12 49007205 49007279 - 50211190 50211264 - 49817407 49817481 - 18984615 100189510 ABBA01031536;AC131157;AMYH02026449;HG984152;NG_008568 TRNAQ47P APPROVED pseudo HGNC:35085 INFERRED 2300526 NMTRQ-TTG9-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 9-1 2 2 2 q21.1 125866364 125866435 + 132143133 132143204 + 131385560 131385631 + 18984615 100189451 ABBA01028239;AC073869;AMYH02004808;HG984155;NG_008507 TRNAQ36P APPROVED pseudo HGNC:35022 INFERRED 2300452 NMTRS-TGA2-1 nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 2-1 2 2 2 q21.1 125863373 125863442 + 132140142 132140211 + 131382569 131382638 + 18984615 100189525 ABBA01028239;AC073869;AMYH02004808;HG984170;NG_008583 TRNAS31P APPROVED pseudo HGNC:35100 INFERRED 2300580 NMTRQ-TTG5-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 5-1 MT 1 1 18984615 100189397 AC025283;HG984151 TRNAQ31 APPROVED trna HGNC:34965 2300465 NMTRS-TGA3-1 nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 3-1 17 17 17 p11.2 20207850 20207918 - 22028179 22028247 - 22528853 22528921 - 18984615 100189512 ABBA01006755;AC131055;AC132825;AMYH02033202;HG984171;NG_008570 TRNAS30P APPROVED pseudo HGNC:35087 INFERRED 2300529 NMTRQ-TTG8-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 8-1 Y Y Y p11.2 981527 981601 + 8240140 8240214 - 8372099 8372173 - 18984615 100189448 ABBA01060229;AC025731;HG984154;NG_008504 TRNAQ35P APPROVED pseudo HGNC:35018 INFERRED 2300532 NMTRQ-TTG7-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 7-1 2 2 2 q21.1 124303242 124303313 - 131029911 131029982 - 130272338 130272409 - 18984615 100189445 ABBA01017954;AC068137;AMYH02004775;HG984153;NG_008501 TRNAQ34P APPROVED pseudo HGNC:35015 INFERRED 1348049 NMUR1 neuromedin U receptor 1 ENCODES a protein that exhibits neuromedin U receptor activity; INVOLVED IN activation of phospholipase C activity; calcium ion transport; calcium-mediated signaling; FOUND IN integral component of membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amitriptyline (ortholog); ammonium chloride (ortholog) 2 2 2 q37.1 226164278 226171589 - 232387871 232395182 - 231520257 231530471 - 6480464 10783389;10811630;10894543;10899166;12477932;15342556;15489334;15635449;15815621;18577758;23400010;9782091 10316 Q9HB89 ABBA01002056;AC017104;AF044600;AF044601;AF272362;AK300222;AMYH02005971;BC036543;BC051914;BP198644;CH471063;NM_006056;XM_006712195;XM_006712196 AAC02680;AAG24793;AAH36543;AAH51914;AAY24249;BAG61990;EAW70966;NP_006047;Q9HB89;XP_006712258;XP_006712259 Hs.471619 2107441;5015619;5022578 D11S3114;D1S1423;NMUR1_7281 (FM-3);FM-3;FM3;GPC-R;GPR66;NMU-R1;NMU1R G protein-coupled receptor 66;G-protein coupled receptor 66;G-protein coupled receptor FM-3;OTTHUMP00000164297;neuromedin-U receptor 1 protein-coding ENSG00000171596 HGNC:4518 16039 604153 VALIDATED 1343070 NMUR2 neuromedin U receptor 2 This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq, Jul 2008] 5 5 5 q33.1 147846463 147860200 - 151771102 151784840 - 152391541 152405279 - 632965;6480464;8554872 10894543 10887190;10899166;11010960;12477932;15489334;15525579;15635449;16781063;18577758;20395239;22688191;24024966;8940772 56923 Q9GZQ4 AB041228;ABBA01026249;AC008571;AF242874;AF272363;AF292402;AI023570;AMYH02012482;BC016938;BC067776;CH471062;NM_020167 AAF82755;AAG03064;AAG24794;AAH16938;AAH67776;ABM82703;ABM85887;BAB13721;EAW61653;NP_064552;Q9GZQ4 Hs.731911 1785388;1850457;1854300;1854302 A005Z09;D5S1834;G20615;SHGC-141940 FM-4;FM4;NMU-R2;NMU2R;TGR-1;TGR1 G-protein coupled receptor FM-4;G-protein coupled receptor TGR-1;OTTHUMP00000160626;growth hormone secretagogue receptor family, member 4;neuromedin-U receptor 2 APPROVED protein-coding ENSG00000132911 HGNC:16454 12003 605108 REVIEWED 730841 NNAT neuronatin The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of the BLCAP gene, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 20 20 20 q11.2-q12 32856869 32859355 + 36149607 36152092 + 37521205 37523690 + 1580863;6480464 11476579;11543638;11780052;11960906;12477932;12775420;15489334;17805055;18701710;19218280;19851307;21742036;21832049;22022350;22624064;23408434;23825673;8660979;8813377;9356927 4826 Q16517 AB002392;ABBA01006621;AI879211;AK312069;AL109614;AMYH02037048;AMYH02037049;BC001768;BE255132;BG472075;BT019426;CH471077;NG_009263;NM_005386;NM_181689;U25033;U25034;U31767 AAA93224;AAA93225;AAC50626;AAC50627;AAH01768;AAV38233;BAA25016;BAG35005;EAW76057;EAW76058;EAW76059;EAW76060;EAW76061;NP_005377;NP_859017;Q16517 Hs.504703 1685327;2108313;2133420;2137808;2185942;7186170 D20S125E;NNAT_8167;RH27937;RH79915;WI-21755 MGC1439;Peg5 OTTHUMP00000030933;OTTHUMP00000030934 APPROVED protein-coding ENSG00000053438 HGNC:7860 04377 603106 REVIEWED 68564 NMU neuromedin U ENCODES a protein that exhibits neuromedin U receptor binding (inferred); receptor binding (inferred); INVOLVED IN digestion (inferred); eating behavior (inferred); G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Obesity; FOUND IN extracellular region (inferred); terminal bouton (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 4 4 4 q12 53963435 54004491 - 56461396 56502465 - 55595229 55636298 - 1580863;1642093;1642094;632965;1642095;6480464 10894543;15448684;16984985;17706946 10783389;10811630;10887190;10899166;10999960;12023529;12477932;14623274;15123239;15187020;15331768;15489334;15635449;16878152;17018595;19118941;19519756;20379614;21791076;22479202;23936460;24876102;7619205 10874 D6RBC9;E9PDJ7;P48645 ABBA01003414;AC024243;AJ510133;AJ510134;AJ510135;AM279463;AMYH02009245;AMYH02009246;AX427612;BC012908;BF185217;BI603117;BQ049320;CH471057;CN343322;FB660528;NM_001292045;NM_001292046;NM_006681;NR_120489;X76029;XM_005265713 AAH12908;ABM82221;ABM85405;CAA53619;CAD35974;CAD52852;CAD52853;CAD52854;CAK50583;CAS01829;EAX05470;EAX05471;NP_001278974;NP_001278975;NP_006672;P48645;XP_005265770 Hs.418367 1658973;1852971 D4S3177;STS-X76029 OTTHUMP00000128356;OTTHUMP00000218696;OTTHUMP00000218697;OTTHUMP00000218881;neuromedin;neuromedin-U;prepro-NMU protein-coding ENSG00000109255 HGNC:7859 05485 605103 VALIDATED 1345000 NNO1 nanophthalmos 1 ASSOCIATED WITH Nanophthalmos 1 (inferred) 7240710 9792868 23691 1298330;1334892;1336452;1340959;7187871 D11S1313;D11S903;D11S905;D11S987 HGNC:7862 600165 2300464 NMTRV-TAC1-1 nuclear-encoded mitochondrial transfer RNA-Val (TAC) 1-1 6 6 6 q25.3 157603549 157603623 - 156869046 156869120 - 156547912 156547986 - 18984615 100189513 ABBA01025563;AL158033;AMYH02014809;HG984172;NG_008571 TRNAV37P APPROVED pseudo HGNC:35088 INFERRED 7248461 NNT-AS1 NNT antisense RNA 1 5 5 43573287 43603332 - 43573185 43603230 - 14702039;16344560 100652772 ABBA01024259;ABBA01024260;AC010435;AC114956;AK055769;AL691886;AMYH02011248;BC012288;DA630653;DB499358;HG497927;HG497928;HY014991;KC876977;NR_073113 Hs.482043;Hs.613883 RP11-159F24.1 ncrna HGNC:49005 VALIDATED 1354431 NOA1 nitric oxide associated 1 ENCODES a protein that exhibits GTP binding; poly(A) RNA binding; INVOLVED IN regulation of cell death; regulation of cellular respiration; mitochondrial translation (ortholog); FOUND IN extrinsic component of mitochondrial inner membrane; mitochondrion; INTERACTS WITH diazinon; menadione; tamoxifen 4 4 4 q12 55335470 55349777 - 57829516 57843826 - 56963350 56977660 - 737633;6480464 12477932 14702039;15489334;16169070;16380119;18456285;19103604;20186120;20877624;21106707;21118999;21139048;2118999;21771794;21890473;21900206;21909106;22447445;24778252 84273 Q8NC60 ABBA01003448;AC069307;AK074953;AK098215;AK128696;AMYH02009272;BC004894;CH471057;NM_032313 AAH04894;ABM82785;ABM85974;BAC05262;BAC11311;BAG54713;EAX05518;NP_115689;Q8NC60 Hs.8715 1960852;2143851;5015619;5015879;5015961;5016478;5020946;5022463;5022578;5022651;5024272;5037552 D11S2921;D11S3114;D15S1477;D1S1423;D2S1254;D3S1673;D4S3270;D8S2279;GDB:314949;GDB:434012;L17971;REN51297 C4orf14;MGC3232;MTG3;hAtNOS1;hNOA1;mAtNOS1 OTTHUMP00000158975;hypothetical protein LOC84273;mitochondrial GTPase 3 homolog;mitochondrial nitric oxide synthase;nitric oxide associated-1;nitric oxide synthase, mitochondrial (putative);nitric oxide-associated protein 1;putative ortholog of Arabidopsis mitochondrial nitric oxide synthase;uncharacterized protein C4orf14 APPROVED protein-coding HGNC:28473 12823 614919 PROVISIONAL 2300922 NMTRS-TGA1-1 nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 1-1 MT 1 1 18984615 100189055 AC068137;HG984169 TRNAS8 APPROVED trna HGNC:34614 2300762 NMTRQ-TTG3-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 3-1 MT 1 1 18984615 100189215 AC012365;HG984149 TRNAQ18 APPROVED trna HGNC:34778 1603053 NOB1 NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010] 16 16 16 q22.3 54290520 54303578 - 69775757 69788871 - 69741854 69754968 - 6480464;6907045 12477932;12588997;14702039;15231747;15489334;16172919;16341674;16344560;17081983;1791827;18482256;19706509;21048991;21139048;21287298;21573803;21832049;21890473;21906983;21963094;22268729;22445998;22505724;23612971;23685895;23911301;24133592;24228091;24250222;24452698;24457600;24778252;24816145;25027693 28987 H3BUR4;Q9ULX3 AB026125;ABBA01025539;ABBA01025540;AC092115;AF190161;AK001028;AK314307;AMYH02032288;AY487344;BC000050;BC064630;BG386829;BM793847;BM827373;CH471092;DA004856;DB048531;DB344693;NM_014062;NR_074074 AAH00050;AAH64630;AAQ13705;AAR85357;BAA86961;BAA91473;BAG36959;EAW83285;EAW83286;NP_054781;Q9ULX3 Hs.271695 1646919;1653068;1737307;1769381;1788636;2119092;2129094;2137887;2170948 A005R12;D16S2647;DXS7556;DXS9791;RH18146;RH45900;RH65148;RH66628;SHGC-60732 ART-4;MST158;MSTP158;NOB1P;PSMD8BP1 OTTHUMP00000174899;PSMD8 binding protein 1;RNA-binding protein NOB1;adenocarcinoma antigen recognized by T lymphocytes 4;nin one binding protein;phosphorylation regulatory protein HP-10 APPROVED protein-coding ENSG00000141101 HGNC:29540 11395 613586 VALIDATED 1604996 NOBOX NOBOX oogenesis homeobox This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011] 7 7 7 q35 138768371 138774825 - 144094333 144107320 - 144397240 144410227 - 7240710;6480464;8554872;8699517 11181995;11804785;12853948;15326356;15950662;16597639;17701902;18675947;18689850;18930203;19610175;20593028;21837770;23535729;8855241 135935 O60393 AACC02000041;ABBA01033541;ABBA01033542;AC004534;AC245152;CH471146;NG_028979;NM_001080413 AAC12957;AAI52835;EAL24414;EAW80093;EAW80094;NP_001073882;O60393 Hs.558628 OG-2;OG2;Og2x;POF5;TCAG_12042 OTTHUMP00000212588;OTTHUMP00000212589;homeobox protein NOBOX;newborn ovary homeobox-encoding APPROVED protein-coding ENSG00000106410 HGNC:22448 610934;611548 VALIDATED 1320034 NNMT nicotinamide N-methyltransferase N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008] 11 11 11 q23.1 111319440 111336148 + 114166535 114183238 + 114295813 114312516 + 1359084;1580863;2299120;6480464;6907045 15922112;17070307 10471062;11271497;11853016;12216074;12477932;1533573;15486044;15489334;15728403;15849667;16166432;16676400;17412799;17434578;17903297;17922140;18427977;18441319;18553462;18635682;18724390;18996527;19020309;19161160;19216803;19242722;19336370;19343046;19619240;19812220;19924637;20104648;20458436;20634891;21045016;21139048;21791160;21823666;21832049;21988832;22628313;23000965;23097023;23455543;23479363;23764850;23838801;23964925;24004542;8182091;8575745;8845860;9804963 4837 F5H0R4;P40261;Q6FH49 AA402535;ABBA01039771;AK026845;AMYH02025600;AP002518;BC000234;BI255889;CH471065;CR541907;CS463820;EF445002;JB275303;NM_006169;U08021;U20970;U20971 AAA19904;AAA93158;AAH00234;ABM83767;ABM87087;ACA06031;CAG46705;CAM12693;CDH92517;EAW67243;EAW67244;NP_006160;P40261 Hs.503911 1649639;1656741;1778987;1854960;2140137;2161769;2162402;2176326;2219190 C95593;D11S2386;D11S4067;D11S4349;NNMT;NNMT__6063;RH11572;RH11609;RH48226 OTTHUMP00000238385 APPROVED protein-coding ENSG00000166741 HGNC:7861 02478 600008 REVIEWED 1351355 NNT nicotinamide nucleotide transhydrogenase This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. Two alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 p12 43495188 43598076 + 43602791 43705668 + 43602689 43705566 + 1580863;6480464;6907045;8699517;7240710;8554872 10673423;10739929;11076863;11181995;11230166;11256614;12223207;12477932;12592411;12788487;15489334;15489336;16344560;16381901;17342744;17643375;19946888;20388492;20877624;21139048;21890473;21988832;22586326;22634753;22939629;23000965;23592659;8616157;8951041;9271681;9524818 23530 D6RAI5;D6RCR6;D6RHU2;E9PCX7;H0Y8P5;H0Y9R2;Q13423 ABBA01024260;AC010435;AK297558;AK299622;AL831822;AMYH02011248;AMYH02011249;AW771969;BC032370;BC064402;BC110543;BC110544;BU429380;CH471119;DA521839;NG_032869;NM_012343;NM_182977;U40490;XM_005248274;XM_005248275;XM_006714461;Z50101 AAC51914;AAH32370;AAI10544;AAI10545;BAG59951;BAG61550;CAA90428;CAD38536;CAL37542;CAL38491;EAW56073;EAW56074;NP_036475;NP_892022;Q13423;XP_005248331;XP_005248332;XP_006714524 Hs.482043 1676390;1677704;1679437;1679808;1681074;1682674;1684710;1740395;1750021;1751179;1754851;1785210;1785264;2110943;2133652;2140101;2140103 Bda11g05;D5S2216E;D5S523E;RH12654;RH18322;RH25731;RH41165;RH66587;RH68867;RH75784;RH98326;SHGC-100695;SHGC-105067;SHGC-106285;SHGC-111715;SHGC-141773;WI-10159 GCCD4;MGC126502;MGC126503 NAD(P) transhydrogenase, mitochondrial;OTTHUMP00000122432;OTTHUMP00000122433;OTTHUMP00000221608;pyridine nucleotide transhydrogenase APPROVED protein-coding ENSG00000112992 HGNC:7863 09715 607878;614736 REVIEWED 1606804 NOC2L nucleolar complex associated 2 homolog (S. cerevisiae) Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008] 1 1 1 p36.33 1697120 1712216 + 879583 894679 - 944203 959299 - 6480464;8554872 10637318;10737800;11076863;11230166;11256614;11790298;12429849;12477932;14702039;15489334;15489336;16083285;16189514;16322561;16344560;16381901;16565220;16710414;16713569;17081983;17353931;18029348;19471022;20959462;21078624;21139048;21252943;21693764;21832049;21890473;21906983;21963094;21987572;22178446;22363708;22586326;23000965;23537643;24413661;24457600;24816145;8125298 26155 Q9H9J5;Q9Y3T9 ABBA01016004;AK022756;AK024284;AK092491;AK225239;AK315080;AL050019;AL645608;AMYH02000071;AW749585;BC003555;BC009786;BX645732;CH471183;DA002961;NM_015658 AAH03555;BAB14230;BAC03905;BAG51285;CAB43240;CAL38718;EAW56304;EAW56305;EAW56306;NP_056473;Q9Y3T9 Hs.405987 2176080;5015961;5037552;5109281 D15S1477;D1S1425;D8S2279;SHGC-74122 DKFZp564C186;FLJ35172;NET15;NET7;NIR;PPP1R112 NOC2-like protein;OTTHUMP00000038432;novel INHAT (inhibitor of histone acetyltransferase) repressor;novel INHAT repressor;nucleolar complex protein 2 homolog;protein NOC2 homolog APPROVED protein-coding ENSG00000188976 HGNC:24517 13166 610770 VALIDATED 1604300 NOC4L nucleolar complex associated 4 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN rRNA processing (ortholog); FOUND IN nucleolus; nucleus; INTERACTS WITH diazinon; tert-butyl hydroperoxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 q24.33 132247260 132255092 + 132628993 132636986 + 132144448 132152441 + 6480464 12429849;12446671;12477932;14702039;15489334;15590835;16169070;16189514;18235501;21890473;21906983;21963094;22505724;22586326;22939629;23443559 79050 F5H303;Q9BVI4 ABBA01032793;ABBA01032794;AC138466;AMYH02027579;AMYH02027580;BC001191;BC007893;BC071958;CH471054;NM_024078 AAH01191;AAH07893;AAH71958;ABM83444;ABM86656;EAW98544;EAW98545;NP_076983;Q9BVI4 Hs.558536 5112285 RH103011 MGC3162;NET49;NOC4;UTP19 NOC4 protein homolog;NOC4-like protein;OTTHUMP00000238416;nucleolar complex protein 4 homolog;nucleolar complex-associated protein 4-like protein protein-coding ENSG00000184967 HGNC:28461 14543 612819 PROVISIONAL 2300919 NMTRQ-TTG14-1 nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 14-1 MT 1 1 18984615 100189058 AL161450;HG984160 TRNAQ9 APPROVED trna HGNC:34617 1316739 NOC3L nucleolar complex associated 3 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN fat cell differentiation (inferred); FOUND IN nuclear speck (inferred); nucleolus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-nitropyrene; 2,3,7,8-tetrachlorodibenzodioxine 10 10 10 q23.33 89833093 89862784 - 96092989 96122715 - 94333232 94362958 - 737633;6480464 12477932 12429849;14702039;15164054;15489334;15564382;16385451;16565220;19615732;20729852;21139048;21890473;21903422;22360420;22586326;22796266;23455922;23602568;24146276;24457600;24654937;24778252;24816145;25027693 64318 Q8WTT2 AB077992;ABBA01021856;ABBA01021857;AK022882;AK026953;AK091246;AK292520;AK302028;AL355341;AMYH02023571;BC030999;BC049850;CH471066;NM_022451;XM_005270048 AAH49850;BAB14291;BAB15599;BAB84194;BAF85209;BAG63426;EAW50041;NP_071896;Q8WTT2;XP_005270105 Hs.74899 2149663;2181587 RH48066;SHGC-57905 AD24;C10orf117;FAD24;FLJ12820 NOC3 protein homolog;NOC3-like protein;OTTHUMP00000020124;chromosome 10 open reading frame 117;factor for adipocyte differentiation 24;nucleolar complex protein 3 homolog;nucleolar complex-associated protein 3-like protein protein-coding ENSG00000173145 HGNC:24034 12562 610769 PROVISIONAL 1344653 NOD1 nucleotide-binding oligomerization domain containing 1 This gene encodes a member of the NOD (nucleotide-binding oligomerization domain) family. This member is a cytosolic protein. It contains an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. This protein is an intracellular pattern-recognition receptor (PRR) that initiates inflammation in response to a subset of bacteria through the detection of bacterial diaminopimelic acid. Multiple alternatively spliced transcript variants differring in the 5' UTR have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Oct 2009] 7 7 7 p15-p14 30453464 30507713 - 30464143 30518426 - 30424527 30478784 - 1580863;5131480;5131449;5131519;5131518;5131446;5131443;5508755;6480464;6907045;8554872 15215247;15718249;16918516;19360122;20384614;20685341;20921147 10224040;10329646;10880512;11058605;11113115;12459189;12477932;12690205;12761501;12775719;12791997;12813035;12853948;12871942;14702039;14977954;15107016;15276183;15489334;15653568;15657077;15790594;15967716;15990792;16083881;16115863;16172124;16260731;16446438;16464805;16493424;16517750;16741608;16893397;16935475;17005562;17012967;17030188;17054981;17100974;17156193;17285593;17309748;17322292;17337451;17403538;17420470;17435760;17452051;17521327;17595233;17613538;17620097;17907287;17964870;17970764;18186648;18397186;18426885;18521924;18536738;18573991;18574154;19043560;19050632;19074885;19120480;19122645;19167431;19247692;19260860;19264973;19273470;19327158;19337385;19401779;19406482;19423540;19538217;19570976;19587002;19660916;19667203;19723304;19818630;19843337;19882212;19898471;19913121;20002790;20007577;20039881;20124104;20300534;20389019;20395963;20403997;20406964;20438785;20453000;20470879;20485444;20519512;20595247;20628086;20646321;20713621;20818820;20844241;20846183;21042538;21048031;21097508;21241317;21263023;21310790;21330608;21342182;21677137;21722177;21739538;21745515;21757725;21768114;21864388;21924184;21978001;21988832;22062585;22143988;22218461;22507623;22563200;22763410;22795647;22848741;22870324;22902391;23062636;23136938;23182460;23275338;23300079;23353647;23382681;23460743;23711367;23712977;23740944;23839082;23888881;23901396;23935490;24018334;24041848;24053487;24143223;24295830;24366254;24661094;24829218;25012219 10392 C9J8X8;F6XAF2;G3XAL1;Q7Z2K1;Q9Y239 AA845215;AACC02000087;ABBA01056813;AC005154;AC006027;AF113925;AF126484;AF149774;AK023969;AK300367;AMYH02015456;AMYH02015457;AMYH02015458;AMYH02015459;AMYH02015460;AX082205;AY128682;AY128683;AY128684;AY128685;AY128686;AY187249;BC020114;BC040339;CH471073;CV569884;NG_013025;NM_006092;XM_005249568;XM_005249572;XM_005249573;XM_005249574;XM_005249575;XM_005249576;XM_006715633;XM_006715634;XM_006715635;XM_006715636;XM_006715637;XR_428069 AAD28350;AAD29125;AAD43922;AAH40339;AAM98064;AAM98065;AAM98066;AAM98067;AAM98068;AAS46897;BAG51242;BAG62105;CAC33156;EAL24453;EAW93944;EAW93945;EAW93946;EAW93947;EAW93948;EAW93949;NP_006083;Q9Y239;XP_005249625;XP_005249629;XP_005249630;XP_005249631;XP_005249632;XP_005249633;XP_006715696;XP_006715697;XP_006715698;XP_006715699;XP_006715700 Hs.405153 1649724;1652250;1654956;1664363;1770538;2217110;5094877 CARD4_3524;GDB:1317654;GDB:4585415;GDB:4585724;NOD1;SHGC-56016;STS-R02588 CARD4;CLR7.1;NLRC1 NLR family, CARD domain containing 1;OTTHUMP00000158742;caspase recruitment domain family, member 4;caspase recruitment domain-containing protein 4;nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1;nucleotide-binding oligomerization domain-containing protein 1 APPROVED protein-coding ENSG00000106100 HGNC:16390 05815 605980 REVIEWED 735776 NOG noggin The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. [provided by RefSeq, Jul 2008] 17 17 17 q22 51132757 51134648 + 54671060 54672951 + 56593699 56595590 + 729002;1600234;1580863;6480464;6484113;6907045;7240710;8554872;8699517 10080184;7666191 10087923;10657699;10780858;11545688;11562478;11580864;11706034;11846737;11857750;12089654;12115893;12404109;12477932;12478285;12621334;14999064;15064755;15264296;15489334;15539560;15621726;15756420;16126463;16151340;16532400;17029022;17138967;17200191;17218603;17668388;17696196;17889703;18019378;18204269;18391951;18537141;18560367;18931653;19023570;19058174;19167531;19400542;19453261;19597895;19692649;19700758;19804412;20023658;20048150;20503332;20546612;20645637;20734064;20881960;21111488;21249149;22083168;22288654;22364398;22503063;22529972;22547073;22621191;22628200;22740073;23483047;23732071;23826422;23936387;24170657;24326127;24529757;24735539;7557985;8582276;8752214;9585504;9603738;9634519 9241 Q13253 ABBA01041303;AC015724;AK314080;AMYH02033663;BC034027;CH471109;JC739560;NG_011958;NM_005450;U31202 AAA83259;AAH34027;BAG36778;CEF39439;EAW94528;NP_005441;Q13253 Hs.248201 1788184;1794532;1797902;2151221;5017941;5493815 MARC_53900-53901:1151606073:5;NOG_2549;Nog;PMC316831P1;RH66786;UniSTS:495034 SYM1;SYNS1 OTTHUMP00000200510;symphalangism 1 (proximal) APPROVED protein-coding ENSG00000183691 HGNC:7866 04291 184460;185800;186500;186570;602991;611377 REVIEWED 1314354 NODAL nodal growth differentiation factor The protein encoded by this gene is a member of the TGF-beta superfamily. Studies of the mouse counterpart suggested that this gene may be essential for mesoderm formation and subsequent organization of axial structures in early embryonic development. [provided by RefSeq, Jul 2008] 10 10 10 q22.1 65472123 65481898 - 72191692 72201465 - 70431936 70441709 - 1580863;6480464;6907045;7240710;8554872;8699517 12052855;12477932;12606401;15150278;15257293;15308665;15475956;15489334;15501227;15982639;16179608;16385451;17373879;17925387;18022151;18089557;18234825;18538293;18596037;19064609;19279133;19386982;19553149;19874624;19913121;20301702;20383200;20482672;20495543;20628086;20629020;20734064;20819778;21116837;21159651;21356369;21532621;21630377;21656830;21741376;22002671;22031289;22352765;22381624;22454525;22469982;22508696;22577960;22855743;23034635;23144858;23201575;23334323;23424236;23474366;23591895;23911596;24114072;24120944;24186978;24370825;24459810;24798330;8429908;9354794 4838 H7C0E4;Q96S42 AB067632;ABBA01019626;AC022532;AMYH02023287;BC033585;BC039861;BC104976;BC112025;CH471083;NG_012448;NM_018055 AAH33585;AAI04977;AAI12026;BAB62524;EAW54403;NP_060525;Q96S42 Hs.370414 1792948;2119988;2186515 A008L32;PMC171388P1;RH44263 HTX5;MGC138230 OTTHUMP00000019754;nodal homolog APPROVED protein-coding HGNC:7865 08370 270100;601265 REVIEWED 1602460 NOL10 nucleolar protein 10 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; atrazine; ethyl methanesulfonate 2 2 2 p25.1 10625984 10745255 - 10710892 10830113 - 10570766 10689987 - 6480464;8554872 11790298;12429849;12477932;14702039;15489334;15815621;21139048;21890473;21906983;22586326;22751105;24457600;24816145;9847074;9875212 79954 H7C1Z3;Q9BSC4 ABBA01015622;ABBA01015623;ABBA01015624;AC007314;AC092687;AK024000;AK024137;AK290680;AK297169;AK299617;AL529108;AMYH02003268;AMYH02003269;AMYH02003270;AMYH02003271;BC005125;BC037841;BG390065;BM021448;CH471053;CK904284;DC346574;DN602355;NM_001261392;NM_001261394;NM_024894;NR_048552 AAH05125;AAK52071;AAY24068;BAB14765;BAB14836;BAF83369;BAG59662;BAG61545;EAX00953;EAX00954;EAX00955;NP_001248321;NP_001248323;NP_079170;Q9BSC4 Hs.222494 1708248;1713049;1848305;2131677;2148285;2163576;2178828;5022322;5024761;5126193 D11S2560;HSCZRG052;RH120309;RH12648;RH18306;RH36905;RH69302;SHGC-57278;SHGC-79387;WIAF-2224 FLJ13938;FLJ14075;PQBP5 H_NH0074G24.1;OTTHUMP00000147556;OTTHUMP00000147557;polyglutamine binding protein 5 protein-coding ENSG00000115761 HGNC:25862 07849 VALIDATED 1314945 NOD2 nucleotide-binding oligomerization domain containing 2 This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014] 16 16 16 q21 35246377 35282313 + 50727507 50766990 + 50693596 50733079 + 1580863;1600778;1600781;1643119;5131444;5131477;5131510;4892066;5131450;5131515;5131443;5131484;5131440;5131449;5131480;5131438;5131514;5508761;5508720;5508725;5508733;5508736;5508739;5508743;5508757;5508719;5508730;5508748;5508752;5508755;5508727;5508729;5508728;5508746;5508754;5508759;6480464;6484113;6907045;7240710;8547523;8158039;8547515;8158040;8158051;8158050;8547530;8158059;8547527;8547518;7800668;8547529;8547531;8554872;8699517 11385576;11528384;12704363;15090455;15215247;15812565;16008671;16267612;16891783;16973131;18158963;18419343;19116920;19360122;19479837;19679608;19748964;20107953;20223031;20230816;20350193;20442679;20493961;20580721;20646002;20679225;20685341;20863826;20921147;21051079;21155887;21296813;21387014;21424514;21460759;21471573;21565239;21669398;21886831;21943069;21976236;21983784;22575870;23100559;23691182;23858718;24059417;24324141 10053016;10439963;11087742;11318544;11385577;11425413;11472070;11752413;11834373;11837220;11875755;11890351;11910336;11910337;11938034;11976792;12019209;12019468;12020527;12105836;12105838;12115195;12115249;12198692;12202985;12210321;12360101;12397216;12415614;12454871;12459523;12474146;12492195;12508397;12512038;12512064;12514169;12527755;12529700;12532667;12556233;12563685;12577202;12595627;12595906;12617879;12618963;12626759;12631666;12631668;12631669;12649405;12650796;12671896;12671897;12673278;12810925;12823148;12851870;12871942;12876263;12879366;12923865;12930309;12940436;13680285;14508222;14516815;14522785;14555911;14597055;14627676;14638352;14644139;14690304;14743885;14747834;14750643;14971813;14996717;15002819;15008984;15016407;15024686;15044951;15046221;15046222;15052696;15056084;15075345;15095853;15107016;15107849;15140210;15142196;15145460;15168811;15180737;15190267;15194649;15202784;15214053;15276183;15279649;15289769;15308523;15320482;15367194;15377357;15459013;15468360;15472511;15479689;15489579;15492242;15515785;15516360;15520108;15527324;15539411;15539413;15551253;15571586;15571588;15578724;15620648;15626887;15626888;15637755;15638227;15643611;15653568;15654786;15655821;15666202;15667501;15685536;15712650;15753091;15770725;15778542;15785318;15795594;15800781;15803022;15807862;15840263;15842589;15843082;15927452;15930978;15967635;15967716;15973116;15973118;15984988;15990626;15998797;16000642;16002353;16009674;16010583;16080653;16115863;16126943;16133971;16134725;16134731;16148063;16161956;16167972;16174099;16179784;16198136;16203728;16230083;16239840;16239841;16244543;16255050;16257953;16260731;16266221;16278823;16279904;16306764;16315780;16319062;16344053;16344054;16385250;16389181;16393227;16397396;16402184;16414084;16416181;16424393;16436969;16437636;16437728;16441470;16446977;16454837;16461743;16485124;16489646;16492792;16493424;16493449;16494109;16494592;16510569;16519819;16522788;16534418;16611251;16614992;16641610;16642031;16669960;16670523;16670524;16714539;16716969;16741608;16771961;16773683;16804398;16804670;16819374;16825909;16840031;16897777;16907704;16920047;16933467;16949315;16952484;16965521;16977346;17005562;17006998;17009307;17012967;17018387;17020469;17030188;17057186;17058067;17068223;17096091;17100974;17100976;17101573;17113749;17119385;17131470;17142621;17156146;17156193;17157607;17160430;17171451;17174426;17187069;17200669;17206080;17206636;17206688;17258734;17269998;17278126;17285593;17301648;17303577;17319929;17333217;17337451;17337463;17348859;17351900;17355968;17356065;17379562;17389014;17389035;17393391;17403538;17404888;17417801;17420470;17435756;17447842;17451203;17452051;17460484;17476680;17484863;17484864;17486745;17489054;17498224;17509030;17538984;17548659;17554300;17558494;17558906;17563761;17565648;17570063;17595233;17600378;17613538;17620097;17652449;17660460;17661913;17666747;17684544;17690884;17703412;17705850;17719742;17724347;17725592;17763471;17786191;17804789;17852840;17876878;17877509;17892524;17894849;17907287;17911997;17919942;17941079;17964196;17964870;17965022;17968944;17976376;17978873;17980027;18022867;18022871;18028374;18047543;18052659;18069758;18088053;18090989;18092344;18092345;18096043;18157816;18162085;18166373;18182678;18184136;18200509;18200510;18213697;18219096;18227809;18240302;18243161;18248772;18253730;18256385;18271063;18305068;18317454;18329614;18340358;18341489;18367950;18371139;18371140;18382655;18383179;18384487;18413660;18433468;18438406;18466472;18489434;18507017;18521914;18521924;18541930;18563169;18573991;18574154;18576390;18587394;18594982;18617779;18619921;18633131;18640012;18647548;18670786;18676680;18680223;18698678;18715515;18756601;18758419;18758464;18787464;18804983;18818748;18819462;18824555;18855982;18938111;18942751;18942754;18972554;18976442;18985712;19019335;19050632;19058231;19074885;19079230;19098858;19103524;19103559;19112191;19120480;19139201;19169908;19170196;19174806;19183163;19184348;19184350;19189651;19200604;19219079;19235913;19240061;19244164;19247692;19253375;19258923;19262523;19266573;19273470;19275920;19299732;19305026;19319132;19337309;19337385;19349988;19397946;19406482;19422935;19423540;19426395;19434699;19479836;19482182;19527514;19535145;19570052;19570976;19572373;19579027;19579029;19590455;19592251;19625176;19638967;19641059;19659808;19664207;19667203;19679065;19692168;19693669;19701189;19701969;19713276;19721713;19728064;19759286;19760754;19787357;19809335;19822951;19826411;19830732;19843337;19853919;19880660;19888426;19896081;19898471;19907652;19912254;19913121;19948723;19966812;20002790;20018961;20024904;20027650;20032092;20047977;20066736;20079790;20082483;20087966;20110711;20124104;20140262;20155851;20177049;20182871;20232407;20298285;20332463;20346235;20362271;20371648;20373538;20379614;20380008;20384614;20385562;20387682;20403997;20406964;20412372;20428899;20436512;20438785;20441518;20452482;20453000;20483763;20485703;20503287;20524760;20525885;20537165;20541026;20549515;20565245;20570966;20583427;20595247;20601676;20622911;20628086;20632099;20637199;20646321;20673868;20676658;20698950;20713205;20800603;20839241;20844241;20850627;20854823;20865702;20875485;20886065;20940596;20959815;20962850;21039068;21040192;21040358;21042538;21097508;21102463;21123652;21206965;21209938;21215810;21218092;21241317;21263023;21274544;21310790;21335489;21337670;21342182;21343918;21385537;21388357;21391291;21410503;21448648;21573891;21596301;21625457;21659536;21665963;21690088;21699783;21716313;21730793;21734346;21734790;21739538;21744420;21745302;21745515;21768114;21799103;21887730;21906983;21914217;21978001;22139875;22147245;22212192;22218461;22244368;22266421;22275320;22286692;22289211;22319155;22346247;22397822;22412388;22416979;22426692;22464675;22502597;22504414;22509093;22549783;22563200;22571967;22607974;22665475;22684479;22700971;22719818;22730064;22739221;22795647;22807259;22815893;22829933;22879519;22936669;22997500;22998942;23019338;23085276;23102769;23109427;23121969;23128233;23173613;23287275;23300079;23322906;23376921;23409731;23437331;23488593;23493074;23558906;23562557;23594678;23615072;23651603;23709157;23711367;23712977;23740944;23818254;23824692;23850724;23868940;23872065;23888881;23892590;23901396;23991106;24015287;24018334;24047397;24054330;24076061;24098051;24099766;24295830;24297055;24298015;24366254;24391456;24393249;24597572;24695226;7809109;8587604;8894707;9541106;9797359;9924607 64127 E9PK30;E9PLF7;H0YF53;J3QL80;Q9HC29 ABBA01000867;AC007608;AC007728;AF178930;AF385085;AF385087;AF385088;AF385089;AF385090;AJ303140;AK298099;AMYH02032016;AX259774;AX259776;AY187233;AY187234;AY187235;AY187236;AY187237;AY187238;AY187239;AY187240;AY187241;AY187242;AY187243;AY187244;AY187245;AY187246;AY423901;CH471092;DQ868973;HQ204571;HY272594;NG_007508;NM_001293557;NM_022162;XM_005256084;XM_006721242;XM_006721243;XR_429725;XR_429726 AAG33677;AAI52738;AAI56572;AAK70863;AAK70865;AAK70866;AAK70867;AAK70868;AAQ93806;ABJ16061;ADN95581;BAG60384;CAC42117;CAD10212;CAD10248;EAW82767;NP_001280486;NP_071445;Q9HC29;XP_005256141;XP_006721305;XP_006721306 Hs.592072 1336553;1337308;1337425;1338250;1338621;1338725;1339194;1341160;1341768;1341812;1653880;1738561;1738807;1738829;1777571;1789418;1789420;1789422;1789424;1789426;1789428;1789430;1789434;1794738;2217108;7186520;7186523 CARD15_3616;D16S267;D16S2730;D16S2874;D16S2885;D16S3089;D16S3393;D16S408;D16S409;D16S411;D16S415;D16S419;D16S503;D16S514;D16S753;G09530;G67946;G67947;G67948;G67949;G67950;G67951;G67952;G67955;PMC356064P1 ACUG;BLAU;CARD15;CD;CLR16.3;IBD1;NLRC2;NOD2B;PSORAS1 NLR family, CARD domain containing 2;NOD-like receptor C2;OTTHUMP00000164224;OTTHUMP00000236088;caspase recruitment domain family, member 15;caspase recruitment domain protein 15;caspase recruitment domain-containing protein 15;inflammatory bowel disease protein 1;nucleotide-binding oligomerization domain 2;nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2;nucleotide-binding oligomerization domain-containing protein 2 APPROVED protein-coding ENSG00000167207 HGNC:5331 05810 186580;266600;605956;607507;609464 REVIEWED 1601850 NOL12 nucleolar protein 12 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN nucleus (inferred); INTERACTS WITH atrazine; cyclosporin A; valproic acid 22 22 22 q13.1 21884194 21891313 + 38077680 38089718 + 37686337 37693478 + 6480464 10591208;12477932;12529303;14702039;15461802;15489334;16169070;16385458;16565220;17081983;19460752;19913121;21044950;21832049;22190034;24816145 79159 Q9UGY1;V9GYY5 ABBA01055482;AK057139;AK091928;AK294700;AK316443;AL160132;AMYH02038339;BC002808;BE241845;CH471095;CR456463;NM_024313;Z83844 AAH02808;BAG51871;BAG57858;BAH14814;CAB77148;CAG30349;EAW60179;EAW60180;NP_077289;Q9UGY1 Hs.632778 2176153;5491665 MARC_6377-6378:997299596:1;STS-AA029910 FLJ34609;MGC3731;Nop25;dJ37E16.7 OTTHUMP00000198151;OTTHUMP00000198174;OTTHUMP00000198175 protein-coding ENSG00000273899 HGNC:28585 17537 VALIDATED 1343906 NOL2 nucleolar protein 2, 145kDa 4840 HGNC:7868 1603676 NOL11 nucleolar protein 11 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN maturation of SSU-rRNA; positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter; FOUND IN nucleolus; t-UTP complex; INTERACTS WITH 2-methylcholine; atrazine; benzo[a]pyrene diol epoxide I 17 17 17 q24.2 62286138 62312332 + 65713949 65740319 + 67717945 67744150 + 6480464 12429849;12477932;14702039;15334068;15489334;16169070;18029348;21139048;21832049;21890473;21906983;21963094;21988832;22178446;22586326;22797925;22916032;22939629;23000965;24457600;24623842 25926 J3QKV1;J3QLQ6;J3QR28;Q9H8H0 ABBA01028983;ABBA01028984;AC006534;AK023702;AK025390;AK299483;AL110271;AMYH02033849;AY598333;BC001726;BC064404;CH471099;NM_015462 AAH01726;AAH64404;AAT06744;BAB14647;BAH13045;CAB53709;EAW89033;EAW89034;EAW89035;EAW89036;EAW89037;NP_056277;Q9H8H0 Hs.463936 DKFZp586L0724 protein-coding ENSG00000130935 HGNC:24557 10900 615366 PROVISIONAL 1352407 NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain) This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 16 16 16 q22.1 51712649 51717887 + 67204400 67209640 + 67170497 67175737 + 1580863;6480464;8699517;7240710;8554872 10196175;10644725;12191471;12477932;12734105;14702039;15383280;15489334;15509781;15848180;15861191;16189514;16344560;16505176;17142452;17353931;18087040;18172857;18245485;18469522;18516683;18976975;19773279;19913121;20392691;20628086;21041716;21044950;21603976;22037876;22082675;22475487;22863883;22926851;22933109;23877130;9560245 8996 H3BM67;H3BQJ5;H3BUN4;H3BUP2;J3QLS5;J3QLT7;O60936;Q5TZN6 ABBA01025432;AC074143;AF043244;AF064598;AF064599;AF064600;AK092623;AK294145;AK314899;AMYH02032226;BC012798;BF568452;BP215200;BQ685512;BT020158;CB959673;CH471092;DA370107;DA928396;NG_029566;NM_001185057;NM_001185058;NM_001276307;NM_001276309;NM_001276311;NM_001276312;NM_001276319;NM_003946;XM_005256217;XM_005256219;XM_006721322;XM_006721323 AAC18590;AAC18591;AAC18593;AAC18594;AAC34993;AAH12798;AAV38960;ABM83975;ABM87296;BAG37413;BAG57471;EAW83087;EAW83088;EAW83089;NP_001171986;NP_001171987;NP_001263236;NP_001263238;NP_001263240;NP_001263241;NP_001263248;NP_003937;O60936;XP_005256274;XP_005256276;XP_006721385;XP_006721386 Hs.513667 2110601;2137781;2140351;2144813;2158249;5016478 D16S3308;GDB:434012;NOL3_7932;RH41857;RH47869;WI-20202 ARC;CARD2;FCM;FLJ35304;MYC;MYP;NOP;NOP30 muscle-enriched cytoplasmic protein;nucleolar protein 3;nucleolar protein of 30 kDa APPROVED protein-coding ENSG00000140939 HGNC:7869 05572 605235;614937 REVIEWED 1321698 NOL4 nucleolar protein 4 ENCODES a protein that exhibits RNA binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleolus (inferred); INTERACTS WITH 2-methylcholine; aflatoxin B1; bisphenol A 18 18 18 q12 28239387 28611397 - 31431064 31803515 - 33851100 34224842 - 1580863;6480464;8554872 12477932;14702039;15489334;16169070;16189514;16344560;16730941;19846067;20379614;21900206;22747683;24337411;24722188;8889548;9813152;9853615 8715 B3KRF4;B4DLW2;K7EID6;K7EIK8;K7ENM5;K7EPC5;K7EQ17;O94818 AA430033;AB015339;AB017800;ABBA01022460;ABBA01022461;ABBA01022462;ABBA01022463;AC010798;AC018972;AC087397;AC104985;AK091463;AK296539;AK297185;AK299850;AK312562;AMYH02034540;AMYH02034541;BC000313;BM973283;BT006763;CA865522;CH471088;CK822635;CR456730;DA780731;DC350556;DC375356;KF456368;KF456371;KF456372;KF456374;KF456382;KF456383;NM_001198546;NM_001198547;NM_001198548;NM_001198549;NM_001282527;NM_003787;XM_006722563;XM_006722564;XM_006722565;XM_006722566;XM_006722567;XM_006722568 AAH00313;AAP35409;BAA34576;BAA34797;BAG52366;BAG59674;BAG61712;BAH12383;CAG33011;EAX01310;EAX01311;EAX01312;EAX01313;EAX01314;EAX01315;EAX01316;NP_001185475;NP_001185476;NP_001185477;NP_001185478;NP_001269456;NP_003778;O94818;XP_006722626;XP_006722627;XP_006722628;XP_006722629;XP_006722630;XP_006722631 Hs.514795 1340209;1704130;1704440;1715453;1717597;1722149;1752975;1753067;2173503;2183665;2218574 D18S536;G60124;IB3519;NOL4__3915;RH120891;RH122103;SHGC-106862;SHGC-68719;SHGC-79750;SHGC-82933;WI-15749 CT125;HRIHFB2255;NOLP OTTHUMP00000163129;cancer/testis antigen 125;nucleolar localized protein;nucleolar-localized protein protein-coding ENSG00000101746 HGNC:7870 04657 603577 VALIDATED 1343047 NOL7 nucleolar protein 7, 27kDa ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cobalt dichloride; copper(2+) sulfate; cyclosporin A 6 6 6 p23 14855054 14860622 + 13612531 13633089 + 13615327 13632857 + 1580863;6480464;8554872 11790298;12429849;12477932;14574404;14702039;15489334;15635413;15840729;16205646;17207965;18029348;20206243;21818416;21832049;21890473;21900206;22123719;22505724;22990118;23000965;23085760;24250222;24457600;24816145;9875212 51406 H7C2B1;Q9UMY1 ABBA01022128;AF172066;AK075301;AL050299;AL441883;AMYH02013135;BC023517;BC062683;CH471087;CQ783443;NM_016167;XM_005249173;Z93020 AAD49745;AAH23517;AAH62683;ADQ32116;BAC11534;CAB43398;CAF86645;EAW55339;EAW55340;NP_057251;Q9UMY1;XP_005249230 Hs.306242 1655819;1672176;1735616;1849713;2146661;2190581;7186405 D6S1223E;D6S1861;EST8F3;G30503;RH46758;WI-14668 C6orf90;MGC71933;PQBP3;RARG-1;dJ223E5.2 OTTHUMP00000016052;nucleolar protein 7;nucleolar protein of 27 kDa;polyglutamine binding protein 3;retinoic acid repressible protein protein-coding HGNC:21040 17641 611533 PROVISIONAL 1317567 NOL6 nucleolar protein 6 (RNA-associated) The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 33391458 33404047 - 33461351 33473941 - 33461353 33473943 - 6480464;6907045 11790298;11895476;12429849;12477932;14702039;15164053;15489334;15590835;15635413;16565220;19596686;19615732;21139048;21252943;21906983;21963094;22178446;22586326;24457600;24778252;24816145 65083 Q9H6R4 ABBA01065050;ABBA01065051;AF361079;AF361080;AF361081;AK025612;AK026193;AK026258;AK056559;AK293969;AL356218;AMYH02019422;BC008298;BC008852;BC020450;BC030139;CB267269;CH471071;NM_022917;NM_139235 AAH08298;AAH08852;AAH30139;AAL74403;AAL74404;AAL74405;BAB15189;BAB15389;BAG51747;BAG57341;EAW58494;EAW58495;EAW58496;EAW58497;EAW58498;EAW58499;NP_075068;NP_631981;Q9H6R4 Hs.493709 1654491 STS-AA004501 FLJ21959;MGC14896;MGC14921;MGC20838;NRAP;UTP22;bA311H10.1 OTTHUMP00000000450;OTTHUMP00000000451;OTTHUMP00000000452;nucleolar RNA-associated protein;nucleolar protein 6;nucleolar protein family 6 (RNA-associated) APPROVED protein-coding ENSG00000165271 HGNC:19910 14832 611532 REVIEWED 1348785 NOL4L nucleolar protein 4-like ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 20 20 20 q11.21 27786886 27827327 - 31030862 31172875 - 32443059 32585073 - 6480464;8554872 11780052;12477932;14702039;15302935;15342556;15489334;17207965;20520637;21765475;23602568;24722188;8889548 140688 H0Y778;Q5JYB6;Q5JYC0;Q5JYC2;Q5W149;Q6P0R2;Q96MY1 ABBA01019261;ABBA01019262;ABBA01019263;ABBA01019264;ABBA01019265;ABBA01019266;ABBA01019267;ABBA01019268;AK056286;AK097804;AL034550;AL122043;AL133343;AL834520;AMYH02036926;AMYH02036927;AMYH02036928;AMYH02036929;AMYH02036930;AMYH02036931;BC023657;BC038088;BC065370;BC065483;BP365900;BQ067609;BX281715;CH471077;CK300322;KF456884;KF511299;NM_001256798;NM_080616;XM_005260282;XM_005260283;XM_005260284;XM_005260285;XM_005260286;XM_005260288;XM_005260289;XM_005260290;XM_006723702;XM_006723703 AAH23657;AAH65370;AAH65483;ADQ32944;BAB71138;EAW76367;EAW76368;EAW76369;EAW76370;EAW76371;EAW76372;EAW76373;NP_001243727;NP_542183;Q96MY1;XP_005260339;XP_005260340;XP_005260341;XP_005260342;XP_005260343;XP_005260345;XP_005260346;XP_005260347;XP_006723765;XP_006723766 Hs.516978;Hs.729596 1334806;1336853;1669928;1680068;1693406;1706136;1774545;1846807;1846809;2189383;5014053 A006D41;AL034520;D1S3693;D20S187;D20S903;G20732;MARC_3403-3404:991937204:1;RH79830;SHGC-80110;STS-AA011330;WI-14399 C20orf112;C20orf113;DKFZp566G1424;dJ1184F4.2;dJ1184F4.4 OTTHUMP00000030594;hypothetical protein LOC140688;uncharacterized protein C20orf112 APPROVED protein-coding ENSG00000197183 HGNC:16106 10728 VALIDATED 1605957 NOL9 nucleolar protein 9 ENCODES a protein that exhibits polynucleotide 5'-hydroxyl-kinase activity; INVOLVED IN maturation of 5.8S rRNA; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 1 1 1 p36.31 5695263 5728526 - 6581407 6614658 - 6521347 6554598 - 6480464;8554872 11790298;12107410;12429849;12477932;14702039;15489334;16710414;19394292;19946888;21063389;21139048;21252943;21890473;21906983;22190735;22586326;22990118;23667531;24457600;24778252;24816145;8889548 79707 Q5SY16 ABBA01035456;AK026976;AK091284;AK289653;AL591866;AMYH02000178;AMYH02000179;BC009257;BC012439;BC063639;BC073860;BC094836;BC105095;BC110849;BC112278;BC143646;BE383415;BF969522;BI828678;BU728251;BX393201;CA391953;CA432392;CH471130;NM_024654;XM_005263493 AAH09257;AAH12439;AAH63639;AAH94836;AAI05096;AAI10850;AAI12279;ADR83383;BAB15611;BAF82342;EAW71550;NP_078930;Q5SY16;XP_005263550 Hs.59425 1659962;2147800;2164049;5015404;5015861;5015961;5016596;5020740;5020946;5020988;5021228;5021369;5022450;5022463;5037552;7185938 A006V30;D10S16;D10S275;D15S1477;D22S958;D3S1673;D8S2279;GDB:312794;GDB:631802;L17705;L17796;L17809;L17971;RH68223;SHGC-63524 FLJ23323;Grc3;MGC131821;MGC138483;NET6 OTTHUMP00000001049;polynucleotide 5'-hydroxyl-kinase NOL9;polynucleotide 5'-kinase protein-coding ENSG00000162408 HGNC:26265 08667 VALIDATED 7826097 NOL8P1 nucleolar protein 8 pseudogene 1 4 4 4 q32.3 163803882 163807818 - 166468448 166472384 - 165547296 165551232 - 9847074 402191 ABBA01070297;AC093842;AMYH02010443;NG_008249 pseudo HGNC:49557 INFERRED 1345070 NOM1 nucleolar protein with MIF4G domain 1 Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008] 7 7 7 q36.3 151169626 151193029 + 156742417 156765876 + 156949723 156973182 + 6480464 10329000;12477932;15231748;15715967;17353931;17965019;20195357;20379614;21576267;21906983;22990118;23667531;24457600;24778252;24816145 64434 Q5C9Z4 ABBA01032371;AC006357;AK131362;AK308719;AMYH02017151;AY576779;BC007902;BC011187;CH236954;CH471149;NM_138400;XM_005249560 AAH07902;AAI67821;AAT39521;EAX04563;NP_612409;Q5C9Z4;XP_005249617 Hs.15825 1671574;1735710;1777905;1789502;2111035;2127663;2174674;2187695;5015961;5016596;5017227;5037552 D15S1477;D7S2166E;D7S3166;D7S3170;D7S600E;D8S2279;G31130;G38154;GDB:631802;RH47856;STS-M78653;WI-20882 C7orf3;FLJ16401;PPP1R113;SGD1 OTTHUMP00000202107;SGD1 homolog;chromosome 7 open reading frame 3;nucleolar MIF4G domain-containing protein 1 APPROVED protein-coding ENSG00000146909 HGNC:13244 18485 611269 PROVISIONAL 1350134 NOMO1 NODAL modulator 1 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq, Jul 2008] 16 16 16 p13.11 2330 4010 + 14927643 14990014 + 14833786 14896157 + 1580863;6480464 10493829;12477932;1310294;15231747;15231748;15257293;15616553;15862967;16169070;16713569;18157088;19946888;21319273;21890473;21906983;21963094;21987572;21988832;22268729;22505724;22832245;22939629;22990118;23000965;24250222;24816145;8076819;9267806 23420 H3BUC9;Q15155 ABBA01001564;ABBA01197957;AC136443;AC245049;AK125530;BC065535;BI459869;NM_014287;U91318;X57398 AAC15783;AAH65535;CAA40655;NP_055102;P69849;Q15155 Hs.743963 5021130;5021531;5021535;5091821;5113805;5114699 D16S3340;RH64828;RH70841;RH98769;SHGC-11964;SHGC-61035 NOMO3;Nomo;PM5 OTTHUMP00000115643;nodal modulator 3;pM5 protein 3;pM5 protein, telomeric copy APPROVED protein-coding ENSG00000103512 HGNC:30060 11398 609157 REVIEWED 1354376 NOLC1 nucleolar and coiled-body phosphoprotein 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mitotic nuclear division (inferred); nucleolus organization (inferred); rRNA processing (inferred); FOUND IN nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3-dimethoxynaphthalene-1,4-dione 10 10 10 q24.32 97652854 97664548 + 103911933 103923627 + 102152176 102163871 + 1580863;6480464 10567578;11571651;12167624;12446766;12477932;12777385;14702039;15144186;15146197;15161933;15302935;15324660;15385968;16341674;16344560;16385451;16964243;17001309;17038328;17081983;17342744;17353931;17531812;17620599;18029348;18253863;18790693;19129172;19381672;19471022;19541936;19608861;20360068;21139048;21264300;21266110;21693764;21832049;21890473;21906983;22178446;22190034;22586326;22751105;22863883;22906532;22939629;22952844;23000965;23188192;23398456;23455922;23970161;24218616;24457600;24550385;24591637;24654937;24816145;7584026;7584028;7657714;8125298;8630004;8657117;8889548;8972203;9013635;9016786;9553145;9679133 9221 B2RAU8;Q14978;Q96J17;S4R341;S4R349;S4R3C2;S4R402 ABBA01063171;AI937215;AK056755;AK225101;AK314363;AL500527;AL520884;AMYH02023689;AY820769;BC001883;BC006769;BM473772;BM849059;CF145090;CH471066;CN312242;D21262;DA588285;NM_001284388;NM_001284389;NM_004741;XM_005270273;Z34289 AAH01883;AAH06769;AAV67777;ABM82788;ABM85977;BAA04803;BAG36995;BAG51805;CAA84063;EAW49713;EAW49714;EAW49715;EAW49716;EAW49717;EAW49718;NP_001271317;NP_001271318;NP_004732;Q14978;XP_005270330 Hs.523238 1685081;1735986;1773890;2120121;2121687;2129177;2151511;2153651;5016600;5037824 D10S1274E;D10S2136;G64290;NIB1786;RH18143;RH25273;RH44513;RH48900;RH93291;STS-AA037752 KIAA0035;NOPP130;NOPP140;NS5ATP13;P130 140 kDa nucleolar phosphoprotein;HCV NS5A trans-regulated protein 13;HCV NS5A-transactivated protein 13;OTTHUMP00000020356;hepatitis C virus NS5A-transactivated protein 13;nucleolar 130 kDa protein;nucleolar and coiled-body phosphprotein 1;nucleolar phosphoprotein p130;nucleolar protein p130 protein-coding ENSG00000166197 HGNC:15608 602394 VALIDATED 1319952 NOL8 nucleolar protein 8 NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008] 9 9 9 q22.31 65495949 65524185 - 95059640 95087876 - 92297358 92325594 - 737633;6480464 12477932 10737800;11073942;14660641;14702039;15132771;15164053;15489334;16344560;16963496;17081983;18029348;20379614;8125298 55035 A6H8Z4;F5GWN9;F5GXV1;F5H0I5;F5H101;F5H532;F5H692;F5H797;F5H7D5;F5H8B8;F8WE42;Q76FK4 AB105104;AB109030;ABBA01018584;AK000743;AK001049;AK022755;AK024245;AK024786;AK225322;AK297355;AK307408;AL136097;AMYH02021220;BC008491;BC013788;BC035041;BC064942;BC146810;BF906161;CH471089;CR627363;DA470513;NM_001256394;NM_017948;NR_046106;XM_006717166;XM_006717167;XM_006717168;XM_006717169;XM_006717170;XM_006717171;XM_006717172;XM_006717173 AAH13788;AAI46811;BAA91356;BAA91479;BAB14229;BAB14857;BAB15003;BAC99315;BAD12268;BAG59803;CAH10464;EAW62814;EAW62815;EAW62816;NP_001243323;NP_060418;Q76FK4;XP_006717229;XP_006717230;XP_006717231;XP_006717232;XP_006717233;XP_006717234;XP_006717235;XP_006717236 Hs.442199 1681398 RH40358 C9orf34;DKFZp686P12242;FLJ20736;Nop132;bA62C3.3;bA62C3.4 OTTHUMP00000021643;OTTHUMP00000021644;OTTHUMP00000021646;OTTHUMP00000021648;OTTHUMP00000021649;OTTHUMP00000240294;OTTHUMP00000240295;nucleolar protein Nop132 APPROVED protein-coding ENSG00000198000 HGNC:23387 11397 611534 VALIDATED 1343780 NOMO2 NODAL modulator 2 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 16 16 16 p12.3 2330 4010 + 18511182 18573434 - 18499924 18562112 - 6480464;8554872 10493829;12477932;15231747;15257293;15489334;15616553;17261586;21139048;21693764;21890473;21900206;21906983;21963094;21987572;21988832;22268729;22505724;23000965;24250222;24816145;8125298;9267806 283820 H3BMJ6;H3BNC4;H3BPS9;H3BTW1;Q5JPE7 ABBA01153444;AC126755;AC136618;AK225803;AL512687;AL832855;AMYH02031604;AMYH02031605;AMYH02031606;AMYH02031607;AMYH02031608;AMYH02031609;AMYH02031610;AMYH02031611;AMYH02031612;AMYH02031613;BC028389;BC041131;BG830626;NM_001004060;NM_173614 AAH28389;AAH41131;CAC21645;CAI46162;NP_001004060;NP_775885;Q5JPE7 Hs.460141 5021130;5021531;5021535;5091821;5113805;5114699 D16S3340;RH64828;RH70841;RH98769;SHGC-11964;SHGC-61035 Nomo;PM5 OTTHUMP00000162055;pM5 protein 2;pM5 protein, centromeric copy APPROVED protein-coding ENSG00000185164 HGNC:22652 12375 609158 REVIEWED 5133164 NONOP1 non-POU domain containing, octamer-binding pseudogene 1 16 16 16 q22.1 54304071 54306723 - 69789322 69791973 - 69755419 69758070 - 644035 ABBA01025540;AC092115;AMYH02032288;NG_009842 1769381;1788636;2119092 DXS7556;DXS9791;RH18146 pseudo HGNC:42031 INFERRED 5133100 NONOP2 non-POU domain containing, octamer-binding pseudogene 2 2 2 2 p16 61006658 61008596 - 61163065 61165003 - 60935930 60937868 - 9847074 100271700 ABBA01075341;AC010733;AMYH02003916;NG_009843 1775572 RH15853 pseudo HGNC:42032 INFERRED 1353461 NOP10 NOP10 ribonucleoprotein This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008] 15 15 15 q14-q15 11436557 11438002 - 34633917 34635362 - 34341716 34343161 - 1580863;6480464;6907045;7240710;8554872;8699517 11074001;12477932;15044956;15489334;15635413;15814878;16601202;17507419;17620599;19095616;19615732;20008900;20301779;20360068;21139048;23166591;23602568;24457600;24778252;9843512 55505 H0YM60;Q9NPE3 AB043103;AB043104;ABBA01038538;ABBA01038539;AC021822;AMYH02030160;BC008886;BC063023;BM554889;BQ218536;CH471125;HB964878;HD022288;NG_011562;NM_018648 AAH08886;AAH63023;BAA96107;BAA96133;CBG17030;CBV30476;EAW92303;NP_061118;Q9NPE3 Hs.14317 1722379;2141391 G60261;SHGC-33497 DKCB1;MGC70651;NOLA3;NOP10P H/ACA ribonucleoprotein complex subunit 3;NOP10 ribonucleoprotein homolog;OTTHUMP00000159812;homolog of yeast Nop10p;nucleolar protein 10;nucleolar protein family A member 3;nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs);snoRNP protein NOP10 APPROVED protein-coding ENSG00000182117 HGNC:14378 07571 224230;606471 REVIEWED 1313732 NOP14 NOP14 nucleolar protein This gene encodes a protein that plays a role in pre-18s rRNA processing and small ribosomal subunit assembly. The encoded protein may be involved in the regulation of pancreatic cancer cell proliferation and migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 4 4 4 p16.3 2850855 2876019 - 2939663 2965233 - 2937936 2963506 - 6480464 11694595;12477932;15489334;16565220;17081983;19471022;19596686;19946888;20020773;21890473;21906983;22425761;22586326;22678362;22939629;22990118;23382074;24457600;24816145;9661704;9734812 8602 E9PFK5;P78316 AB000467;ABBA01029482;ABBA01029483;AF040965;AK024755;AK025692;AK292939;AL390065;AMYH02008623;BC009760;BC017358;BC026035;BC053635;CH471131;NM_001291978;NM_001291979;NM_003703;XM_006713929;XR_241655 AAB97011;AAH09760;AAH26035;AAH53635;BAA19121;BAF85628;EAW82489;EAW82490;EAW82491;EAW82492;EAW82493;NP_001278907;NP_001278908;NP_003694;P78316;XP_006713992 Hs.627133 1700704;1729487;2156020;2177350;5015961;5022322;5022651;5037552;7184650;7184757 A006Q42;D11S2560;D11S2921;D15S1477;D4S95;D8S2279;RH103975;SHGC-67833 C4orf9;NOL14;RES4-25;RES425;UTP2 NOP14 homolog;NOP14 nucleolar protein homolog;OTTHUMP00000216964;OTTHUMP00000216966;OTTHUMP00000216986;OTTHUMP00000217567;chromosome 4 open reading frame 9;nucleolar complex protein 14;nucleolar protein 14;nucleolar protein 14 homolog;probable nucleolar complex protein 14 APPROVED protein-coding ENSG00000087269 HGNC:16821 12827 611526 VALIDATED 1343083 NONO non-POU domain containing, octamer-binding This gene encodes an RNA-binding protein which plays various roles in the nucleus, including transcriptional regulation and RNA splicing. A rearrangement between this gene and the transcription factor E3 gene has been observed in papillary renal cell carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes exist on Chromosomes 2 and 16. [provided by RefSeq, Feb 2009] X X X q13.1 70856920 70874896 + 70503042 70521018 + 71283192 71301168 + 1580863;6480464 10821857;10858305;11259580;11525732;11710964;11790298;11790299;11897684;12171929;12358429;12403470;12417296;12477932;12672026;12810069;12944487;14702039;15057275;15489334;15576338;15590677;15635413;15790595;15848144;15860628;16055720;16148043;16159877;16169070;16189514;16196087;16230076;16236267;16344560;16417406;16964243;17081983;17148452;17314511;17361185;17452459;17507659;17620599;17639083;17725712;17803295;17965020;18042045;18077367;18439917;18457437;18655028;18677406;18781797;18952062;19135240;19144721;19165527;19217333;19322201;19380743;19423654;19464723;19471022;19542561;19596686;19738201;19850743;19874820;19928837;19946888;20000738;20085233;20360068;20421735;20460684;20508642;20639865;21081666;21139048;21145461;21150319;21209461;21252943;21549307;21566083;21642354;21670149;21693764;21819346;21890473;21906983;21915321;21963094;21987572;21988832;22053931;22079093;22102035;22108332;22118674;22174317;22213094;22412018;22416126;22446626;22505724;22623428;22751105;22797925;22939629;22944692;23000965;23125841;23151878;23398456;23463506;23640037;23874603;24250222;24332808;24337577;24457600;24550385;24583282;24591637;24816145;25015289;25027693;8371983;8439294;8626664;9341872;9360842;9393982;9756848 4841 C9IZL7;C9J4X2;C9JJ13;C9JYS8;H7C367;Q15233 ABBA01067707;ABBA01067708;ABBA01067709;AK055406;AK291140;AK297144;AL590762;AMYH02039673;AU119361;BC002364;BC003129;BC004113;BC010049;BC012141;BC025280;BC025352;BC028299;BC069616;BC069639;CH471132;CR456761;DA116840;DA779425;L14599;L32558;NM_001145408;NM_001145409;NM_001145410;NM_007363;U02493;U89867;Y11289 AAA03427;AAA36727;AAC37578;AAC51852;AAH02364;AAH03129;AAH12141;AAH28299;AAH69616;AAH69639;BAF83829;BAH12508;CAA72157;CAG33042;EAX05298;EAX05299;EAX05300;NP_001138880;NP_001138881;NP_001138882;NP_031389;Q15233 Hs.533282;Hs.700344 1702880;1769381;1788636;2108317;2119092;5015861;5016478;5020881;5022450;5022588;5037552;5109281;5492539;7185938 D10S16;D10S275;D1S1425;D5S1597E;D8S2279;DXS1500;DXS7556;DXS9791;GDB:434012;L17709;NONO_8509;RH18146;UniSTS:481582 NMT55;NRB54;P54;P54NRB;PPP1R114 54 kDa nuclear RNA- and DNA-binding protein;55 kDa nuclear protein;DNA-binding p52/p100 complex, 52 kDa subunit;OTTHUMP00000023506;OTTHUMP00000023507;OTTHUMP00000023508;non-POU domain-containing octamer (ATGCAAAT) binding protein;non-POU domain-containing octamer-binding protein;p54(nrb) APPROVED protein-coding ENSG00000147140 HGNC:7871 02098 300084 REVIEWED 1351743 NOP14-AS1 NOP14 antisense RNA 1 INTERACTS WITH zinc atom; zinc(0) 4 4 4 p16.3 2848465 2863990 + 2937273 2952794 + 2935546 2951067 + 6480464 12477932;9734812 317648 AB000464;AB000465;AB000466;ABBA01029482;ABBA01029483;AL390065;AMYH02008623;BC020978;BC041605;CH471131;HG496676;NR_015453 EAW82495 Hs.398178;Hs.731500 1854325;2118060;2156020;2177350 A006Q42;SGC34157;SHGC-67833;STS-R53618 C4orf10;RES4-24;RP11-520M5.5 APPROVED ncrna ENSG00000249673 HGNC:20205 PREDICTED 1605076 NOP16 NOP16 nucleolar protein NOP16 is transcriptionally regulated by c-Myc (MYC; MIM 190080), upregulated in breast cancer, and overexpression is associated with poor patient survival (Butt et al., 2008).[supplied by OMIM, Jun 2009] 5 5 5 q35.2 172686561 172690862 + 175810940 175815763 - 176383937 176388762 - 6480464 10810093;11042152;11790298;12429849;12477932;15489334;18029348;18373870;20020773;21139048;21145461;21832049;22939629;23000965;23602568;24778252;24816145 51491 B4E098;D6RC60;D6RIC3;Q6PIM0;Q9Y3C1 ABBA01033501;AC138956;AF151019;AF151875;AF161460;AK300883;AK303281;AMYH02012812;AY561704;BC019331;BC032424;BC040106;BM826387;BM988284;BU594763;BU741840;CB122385;CH471195;CR457169;KF459629;NM_001256539;NM_001256540;NM_001291305;NM_001291306;NM_001291307;NM_001291308;NM_016391 AAD34112;AAF29075;AAF36105;AAH19331;AAH32424;AAH40106;AAS66977;ADR82683;BAG62525;BAG64360;CAG33450;EAW85083;EAW85084;EAW85085;NP_001243468;NP_001243469;NP_001278234;NP_001278235;NP_001278236;NP_001278237;NP_057475;Q9Y3C1 Hs.696283 1671593;1735464;2147655;2191807 D5S1586E;G22291;MARC_8179-8180:996688360:1;WI-16923 HSPC111;HSPC185 HBV pre-S2 trans-regulated protein 3;NOP16 nucleolar protein homolog;OTTHUMP00000223273;OTTHUMP00000223274;OTTHUMP00000223277;hypothetical protein HSPC111;nucleolar protein 16;nucleolar protein 16 homolog APPROVED protein-coding ENSG00000048162 HGNC:26934 13694 612861 VALIDATED 1354081 NOMO3 NODAL modulator 3 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. [provided by RefSeq, Jul 2008] 16 16 16 p13 2330 4010 + 16326389 16388668 + 16232532 16294811 + 6480464 10493829;10737800;12477932;15231747;15231748;15257293;15616553;15862967;16169070;16344560;16713569;18781797;21875946;21890473;21906983;21963094;21987572;22268729;22505724;22990118;23000965;24816145;8076819;9267806 408050 I3L0Q6;I3L1G6;I3L2X2;I3L516;I3NI42;J3KN36;P69849;Q1LZN2 AC136624;AC243824;AC244489;AI752685;AU132793;AW503115;BC006531;BC013837;BG982746;BI459221;BI596373;BM507095;BQ948282;BQ954152;BU169681;BU526741;BX383108;CD653707;DA392676;DB461977;DR760717;NM_001004067;XM_005255318;XM_006725195 AAH06531;AAI56527;NP_001004067;P69849;XP_005255375;XP_006725258 Hs.460141 5021130;5021531;5021535;5091821;5113805;5114699 D16S3340;RH64828;RH70841;RH98769;SHGC-11964;SHGC-61035 Nomo OTTHUMP00000243997;pM5 protein 3;pM5 protein, middle copy APPROVED protein-coding ENSG00000103226 HGNC:25242 12376 609159 REVIEWED 1342956 NOP56P1 NOP56 ribonucleoprotein pseudogene 1 6 6 6 p22.1 30357715 30358086 - 28751410 28751781 - 28783633 28784004 - 646192 ABBA01038026;AL662890;AL844539;AL901607;AMYH02013402;BX088523;BX908720;CR753651;CR759954;NG_006572 1724321 RH119082 NOL5B;NOL5BP;NOP56-L;dJ207F6.1 APPROVED pseudo HGNC:13962 INFERRED 8548363 NOP56P2 NOP56 ribonucleoprotein pseudogene 2 9 9 9 p21.3 23604494 23605364 + 23681883 23682753 + 23681885 23682755 + 402360 ABBA01065155;AL445623;AMYH02019306;CH471071;NG_023280 EAW58587 pseudo HGNC:49800 INFERRED 1318922 NOP56 NOP56 ribonucleoprotein Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jan 2009] 20 20 20 p13 2697715 2703502 + 2633178 2639039 + 2652532 2658393 + 1580863;6480464;6907045;8699517;7240710 10737800;11780052;11790298;12417735;12429849;12477932;12777385;14702039;15188402;15489334;15574333;15635413;16196087;16344560;16565220;17081983;17314511;17620599;17636026;17643375;19331828;19454010;19596686;19620283;19928837;19946888;20020773;20085707;20301317;20360068;21139048;21145461;21182205;21683323;21693764;21890473;21906983;21963094;22113938;22178446;22353375;22492559;22505724;22751105;22939629;23000965;23602568;23752268;24457600;24550385;24654937;24816145;25027693;25101480;9372940 10528 H0Y653;H0YDU4;O00567;Q5JXT2 ABBA01053795;AK097186;AK292721;AL049712;AMYH02036584;BC004937;BC018421;BC035369;BC104791;BC104793;BG429581;BX647439;BX647513;CH471133;CV338938;DA805367;NG_032136;NM_006392;NR_027700;Y12065 AAH04937;AAH18421;AAI04792;AAI04794;BAF85410;CAA72789;EAX10584;EAX10585;EAX10586;EAX10587;EAX10588;EAX10589;NP_006383;O00567 Hs.376064 1712230;1769739;1853230;2108315;2116650;2169998;2217468;5123460;5491266 D20S559E;G07287;G54023;IDH3B_3390;MARC_6809-6810:992007497:1;NOL5A_7975;RH74;WI-16193;WI-18557 NOL5A;SCA36 NOP56 ribonucleoprotein homolog;OTTHUMP00000030035;nucleolar protein 56;nucleolar protein 5A (56kD with KKE/D repeat);nucleolar protein 5A (56kDa with KKE/D repeat);spinocerebellar ataxia 36 APPROVED protein-coding ENSG00000101361 HGNC:15911 10119 614153;614154 REVIEWED 733462 NOP58 NOP58 ribonucleoprotein ENCODES a protein that exhibits poly(A) RNA binding; snoRNA binding; INVOLVED IN snRNP protein import into nucleus (ortholog); PARTICIPATES IN ribosome biogenesis pathway; FOUND IN Cajal body; cytoplasm; membrane; INTERACTS WITH atrazine; calcitriol; copper(2+) sulfate 2 2 2 q33.1 196882417 196920291 + 203130515 203168384 + 202265792 202303661 + 6480464;6907045 10606270;10648622;10679015;10925205;11042152;12032086;12417735;12429849;12477932;12777385;14702039;15489334;15574333;15635413;16565220;16687569;17081983;17636026;17643375;18029348;18781797;19454010;19471022;19620283;19738201;19805454;19928837;19946888;20020773;20360068;20797632;20805487;21139048;21145461;21182205;21693764;21890473;21906983;21963094;21987572;22113938;22174317;22178446;22586326;22751105;22939629;23000965;23602568;24457600;24654937;25027693 51602 F8WED0;H7BZ72;Q9Y2X3 ABBA01062558;ABBA01062559;AC064836;AF123534;AF161469;AF263608;AK023975;AK300844;AK307396;AL117554;AMYH02005561;AMYH02005562;BC001707;BC009306;BC018805;BC032592;CH471063;NM_015934 AAD27610;AAF29084;AAF91394;AAH09306;AAH32592;AAY24145;ABM81794;ABW03291;BAG51244;BAG62495;CAB55989;EAW70308;NP_057018;Q9Y2X3 Hs.471104 2180548;5112223;5125047 RH102461;RH76425;SHGC-56589 HSPC120;NOP5;NOP5/NOP58 NOP58 ribonucleoprotein homolog;OTTHUMP00000163741;nucleolar protein 5;nucleolar protein 58;nucleolar protein NOP5/NOP58 APPROVED protein-coding ENSG00000055044 HGNC:29926 11036 PROVISIONAL 1318142 NOP9 NOP9 nucleolar protein ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; quercetin; cadmium dichloride (ortholog) 14 14 14 q12 4633722 4639003 + 24769075 24777379 + 24299854 24309126 + 6480464;8554872 12477932;12508121;15489334;15635413;17081983;18029348;19913121;20628086;21139048;21653694;21963094;22174317;22505724;22990118 161424 H0YJP7;Q86U38 AA651879;AB095941;ABBA01061340;AK025512;AK123717;AL096870;AMYH02028880;BC015481;BC025332;BX248018;BX647311;CH471078;HY061279;NM_001286367;NM_174913;XM_005267385 AAH25332;BAC23117;BAG53945;CAD62343;CAI46005;EAW66034;EAW66035;NP_001273296;NP_777573;Q86U38;XP_005267442 Hs.708040 1666759;1674113;1676852;1685165;1687101;1778752;2106991 CIDEB_7222;D14S1220;RH91413;RH93439;RH94061;STS-AA009760;STS-Z41293 C14orf21;KIAA2021 NOP9 nucleolar protein homolog;OTTHUMP00000028177;OTTHUMP00000164792;nucleolar protein 9;pumilio domain-containing protein C14orf21 APPROVED protein-coding ENSG00000196943 HGNC:19826 12643 VALIDATED 1312158 NOP2 NOP2 nucleolar protein ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN methylation (inferred); positive regulation of cell proliferation (inferred); rRNA processing (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; cadmium dichloride 12 12 12 p13 8282899 8294342 - 6666036 6677498 - 6556870 6568332 - 1580863;6480464;8554872 12080348;12370829;12429849;12477932;1394192;14702039;15302935;15848144;16344560;16565220;16964243;17081983;18029348;19394292;19454010;19471022;19596686;20020773;20360068;21081666;21139048;21145461;21182205;21252943;21282530;21386990;21693764;21890473;21903422;21907836;21963094;2199030;22586326;22797925;22939629;22990118;23443559;23455922;23602568;2372471;23752268;24250222;24457600;24639526;24654937;24778252;24816145;25027693;2576976;3422591;8088812;8089149;9115287;9654073 4839 F5GWB7;F5GYR3;F5H359;F5H5X6;F5H709;F5H8G6;P46087 ABBA01017644;ABBA01017645;AC006064;AK056208;AK129852;AK307582;AMYH02025953;AU131299;BC000656;BC065257;BC082985;BC106072;BC128183;BC128184;CH471116;CX868076;DC316656;M32110;NM_001033714;NM_001258308;NM_001258309;NM_001258310;NM_006170;X55504;XM_005253691 AAA36398;AAH00656;AAH65257;AAH82985;AAI06073;AAI28184;AAI28185;BAG51648;CAA39119;EAW88780;NP_001028886;NP_001245237;NP_001245238;NP_001245239;NP_006161;P46087;XP_005253748 Hs.534334 1662621;1666728;1673699;2217670;5024256 D12S1466;NOL1_4026;RH125;RH64827;WI-15438 MGC117384;MGC149287;MGC149288;NOL1;NOP120;NSUN1;p120 NOL1/NOP2/Sun domain family, member 1;NOP2 nucleolar protein homolog;NOP2/Sun domain family, member 1;OTTHUMP00000240260;OTTHUMP00000240261;OTTHUMP00000240262;OTTHUMP00000240263;OTTHUMP00000240264;OTTHUMP00000240265;nucleolar protein 1, 120kDa;nucleolar protein 2 homolog;proliferating-cell nucleolar antigen p120;proliferation-associated nucleolar protein p120;putative ribosomal RNA methyltransferase NOP2 APPROVED protein-coding ENSG00000111641 HGNC:7867 01244 164031 VALIDATED 619551 NOS1 nitric oxide synthase 1 (neuronal) The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011] 12 12 12 q24.22 117280475 117430209 - 117645921 117799607 - 117208142 117441825 - 1581141;1581142;1581143;1581144;1580863;1358519;1300048;1642127;1642129;1642130;1642131;1581689;1642136;1642141;1642145;1642151;1642133;1642134;1642140;1642144;1642148;1642132;1642138;1642142;1642147;5132595;5132628;5132615;5132600;5132607;5132860;5132869;5132870;5131897;5132594;5132629;5132863;5132864;5132868;5132632;5132865;5132590;5131923;5132627;5131936;5132592;5147998;6480464;6907045;6480433;7257665;7257598;7257600;7257658;7257667;7257596;7257669;7257670;7257656;7257604;7257597;7257655;7257657;7244246;7257668;7240710;8554872 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4842 A0PJJ7;B3VK56;B4DG68;C9J5P6;P29475 ABBA01020027;ABBA01020028;ABBA01020029;AC026364;AC068799;AC073864;AF446131;AF446132;AF446133;AF446134;AF446135;AF446136;AF446137;AF446138;AF446139;AF446140;AJ004918;AK294435;AK307481;AMYH02027312;AMYH02027313;AMYH02027314;AY098642;AY445095;BC010126;BC033208;BE207961;CH471054;D16408;EU753241;L02881;NG_011991;NM_000620;NM_001204213;NM_001204214;NM_001204218;U17326;U17327;U31466;XM_006719426;XM_006719427;XM_006719428;XR_429103 AAA36376;AAA62405;AAB49040;AAB60654;AAH33208;AAI56400;AAI72474;AAR07069;ACF04132;BAA03895;BAG57679;CAA06218;EAW98108;EAW98109;EAW98110;NP_000611;NP_001191142;NP_001191143;NP_001191147;P29475;XP_006719489;XP_006719490;XP_006719491 Hs.654410;Hs.684465;Hs.684466;Hs.684467;Hs.735734 1336905;1700412;1736198;1744209;1758155;1761961;1773027;1779944;1782652;2137290;2160544;5016478;5022200;5022578;5022651;5024761;5037552 D11S2921;D12S1144E;D12S1718;D1S1423;D8S2279;GDB:314063;GDB:434012;GDB:437697;L18426;RH103827;RH36905;RK903_904;SGC31491;SHGC-145895;SHGC-147540;SHGC-149522;SHGC-154191 IHPS1;N-NOS;NC-NOS;NOS;bNOS;nNOS NOS type I;OTTHUMP00000174427;OTTHUMP00000174428;constitutive NOS;neuronal NOS;nitric oxide synthase, brain;peptidyl-cysteine S-nitrosylase NOS1 APPROVED protein-coding ENSG00000089250 HGNC:7872 01226 163731;615413 REVIEWED 732118 NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009] 1 1 1 q23.3 135142979 135442880 + 162039581 162339813 + 162069791 162370023 + 6480464;7327168;7327163;7327169;5131967;8554872 17768032;19587612;20202870;21831995 10827173;11043403;11076863;11086993;11867766;12477932;15489334;15707951;16146415;16202394;16648850;16710414;17565224;17576865;17903306;18077426;18235038;18337493;18430503;18474209;18511491;18551039;18766325;18785031;18927126;19019189;19076153;19077434;19111066;19180230;19204306;19247217;19255043;19289301;19305408;19305409;19339362;19553464;19587794;19643915;19800018;19822806;19913121;19937226;19943157;19948975;20031603;20062061;20062063;20215044;20305679;20379614;20398908;20538168;20541371;20602773;20605702;20628086;20722683;20921115;20921969;21685173;21832049;21959512;21996201;22019493;22179838;22682551;22726844;23146198;23166209;23171141;23251661;23347024;23738518;24220657;24857694;9455484;9459447 9722 E9PIP8;E9PSG0;H7BY61;O75052 AB007933;ABBA01047307;ABBA01047308;ABBA01047309;ABBA01047310;AF037070;AI198232;AL450163;AL512785;AL590408;AMYH02002035;AMYH02002036;AMYH02002037;AMYH02002038;AY841899;BC041382;BC112295;BC143771;BC143780;CH471067;KF455047;NG_015979;NM_001126060;NM_001164757;NM_014697 AAC39656;AAI11929;AAI12296;AAI18500;AAI43772;AAW57298;BAA32309;EAW90700;NP_001119532;NP_001158229;NP_055512;O75052 Hs.731942 1338548;1692020;1705996;1706894;1715067;1717023;1723807;1760053;1761707;1762253;1763021;1779486;1787510;2110301;2151052;5124327 AL033662;CAPON__4506;D1S2675;GCT16C03;RH118641;RH119485;RH124073;RH93526;SHGC-107422;SHGC-145682;SHGC-146116;SHGC-146766;SHGC-153465;SHGC-155436;SHGC-78631;SHGC-80935 6330408P19Rik;MGC138500 C-terminal PDZ domain ligand of neuronal nitric oxide synthase (CAPON);C-terminal PDZ ligand of neuronal nitric oxide synthase protein;CAPON;OTTHUMP00000025714;OTTHUMP00000228952;OTTHUMP00000228953;OTTHUMP00000228955;c-terminal pdz domain ligand of neuronal nitric oxide synthase;carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein;ligand of neuronal nitric oxide synthase with carboxyl-terminal PDZ domain;nitric oxide synthase 1 adaptor protein APPROVED protein-coding ENSG00000198929 HGNC:16859 12023 605551 REVIEWED 1350414 NOS2P1 nitric oxide synthase 2 pseudogene 1 17 17 17 q11.2 22840282 22853494 - 25978467 25991679 - 27651441 27664653 - 1580863 11525805;19086053;7558036;9441901 645740 ABBA01015068;AC015688;AMYH02033211;NG_006943;U65699 NOS2C pseudo HGNC:7875 600720 INFERRED 2301119 NOS2P3 nitric oxide synthase 2 pseudogene 3 17 17 17 p11.2 1 2886 + 20346099 20350562 + 20442786 20447249 + 11997339 339256 ABBA01154187;AC015818;AMYH02033185;NG_002717 pseudo HGNC:35124 INFERRED 730951 NOS2 nitric oxide synthase 2, inducible Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 22945649 22989408 - 26083792 26127555 - 27756766 27800529 - 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4843 P35228 A39980;AB022318;ABBA01015066;AC130289;AF068236;AK304252;AMYH02033211;AMYH02033212;AMYH02033213;BC130283;BC144126;CH471159;D26525;DQ060518;EU332854;L09210;L24553;L26055;NG_011470;NM_000625;S75615;S76479;U05810;U20141;U31511;X73029 AAA36375;AAA56666;AAA59171;AAB49041;AAB60366;AAC19133;AAD14179;AAD14226;AAI30284;AAI44127;AAY43131;ABY87543;ADR83439;BAA05531;BAA37123;BAG65119;CAA02473;CAA51512;EAW51048;EAW51049;EAW51050;NP_000616;P35228 Hs.709191 1334514;1714625;1729472;1729703;1743829;1792440;2113512;2165143;2217672;5117120;5124156 (CA)/(GT)_R1;AFM311ZB1;D17S1878;D17S33;D17S582;GDB:374306;GDB:437694;NOS2A_3339;PMC151125P1;RH119978;RH79885 HEP-NOS;INOS;NOS;NOS2A NOS type II;NOS, type II;OTTHUMP00000163279;hepatocyte NOS;inducible NO synthase;inducible NOS;nitric oxide synthase 2A (inducible, hepatocytes);nitric oxide synthase, inducible;nitric oxide synthase, macrophage;peptidyl-cysteine S-nitrosylase NOS2 APPROVED protein-coding ENSG00000007171 HGNC:7873 01225 145500;163730;611162 REVIEWED 1348478 NOSTRIN nitric oxide synthase trafficking Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004] 2 2 2 q31.1 163251347 163330165 + 169643049 169721849 + 168786539 168865339 + 631971;1580863;6480464;8554872 11489260 12446846;12477932;14702039;15342556;15596140;16234328;16722822;16807357;18980613;19399414;19401682;20379614;20442744;20936779;21183735;21351530;23455924;23592143 115677 E9PDM0;F8WCW8;H7BZA6;Q8IVI9 ABBA01004958;AC009475;AC069137;AC208170;AJ532842;AK002203;AK093444;AK123698;AK290254;AMYH02005174;BC014189;BC093072;BF114987;BP334580;BQ899074;CH471058;DQ402497;DW437437;NM_001039724;NM_001171631;NM_001171632;NM_052946;XM_005246270;XM_006712233;XR_427064 AAH14189;AAH93072;AAX93055;AAY24097;ABD62889;ABM83597;ABM87125;BAE46614;BAF82943;BAG52717;CAD58724;EAX11292;EAX11293;EAX11294;EAX11295;NP_001034813;NP_001165102;NP_001165103;NP_443178;Q8IVI9;XP_005246327;XP_006712296 Hs.189780 1340813;1656834;1657459;1679203;1718269;1754227;2134950;2135909 D2S1372;D2S1776;D2S2632;D2S2873;RH122906;RH18467;RH94201;SHGC-132253 DaIP2;MGC20702 BM247 homolog;ENOS traffic inducer;OTTHUMP00000204805;OTTHUMP00000204806;OTTHUMP00000204850;OTTHUMP00000204851;OTTHUMP00000207342;OTTHUMP00000207343;eNOS-trafficking inducer;endothelial nitric oxide synthase traffic inducer;nitric oxide synthase traffic inducer;nitric oxide synthase trafficker;ortholog of mouse disabled 2 interacting proein 2 APPROVED protein-coding ENSG00000163072 HGNC:20203 06324 607496 VALIDATED 8661810 NOS2P4 nitric oxide synthase 2 pseudogene 4 17 17 p11.2 16715755 16715965 + 16812441 16812651 + 11997339 266619 ABBA01173529;AC022596;AMYH02033081;NG_002365 pseudo HGNC:50720 INFERRED 1320636 NOSIP nitric oxide synthase interacting protein The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012] 19 19 19 q13.33 46928301 46953143 - 50058725 50083845 - 49555468 49580572 - 6480464;8554872 10737800;10810093;11149895;12477932;12746455;14702039;15489334;15548660;15635413;16135813;17207965;18029348;19471022;20082095;21139048;21145461;21890473;21906983;22505724;22939629;23000965;24163370;24550385;24816145 51070 M0QX85;M0R1K2;M0R1T7;M0R3B2;Q9Y314 ABBA01032918;ABBA01032919;AC010619;AF132959;AK092444;AK291535;AK300720;AMYH02036322;AMYH02036323;BC009299;BC010077;BC011249;BC047314;BE826708;CH471177;DB470916;NM_001270960;NM_015953;XM_005258964;XM_006723235 AAD27734;AAH09299;AAH10077;AAH11249;ADQ33134;BAF84224;BAG62395;EAW52501;EAW52502;EAW52503;NP_001257889;NP_057037;Q9Y314;XP_005259021;XP_006723298 Hs.7236 1699614 RH103409 CGI-25 eNOS interacting protein;eNOS-interacting protein;nitric oxide synthase-interacting protein APPROVED protein-coding ENSG00000142546 HGNC:17946 17642 REVIEWED 1352421 NOTCH2NL notch 2 N-terminal like ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); Notch signaling pathway (inferred); FOUND IN cytoplasm (inferred); extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; carmustine 1 1 1 q21.2 1 1662 + 145176379 145286270 + 146151908 146229032 - 6480464 12477932;14673143;14702039;16303743;16341674;16713569;18976975;21988832;24722188 388677 Q7Z3S9 ABBA01127912;AC239799;AK000887;AK022008;AK075065;AL592307;AL833369;BC010154;BC019835;BC065219;BC084572;BC090943;BM792637;BX537434;NM_203458 AAH10154;AAH19835;AAH65219;AAH84572;AAH90943;ACE87389;ADZ15853;BAC11381;CAD97676;CAH73993;CAH73994;NP_982283;Q7Z3S9 Hs.655156;Hs.683989;Hs.728902 1681552;1691848;1692136;1692288;1712991;1719557;1720381;1727439;1727937;1752965;5022450;5023733;5113731 AL033805;AL033980;AL034022;AU048745;D10S275;G62977;G63387;RH120586;RH123510;RH123942;RH69557;RH69609;SHGC-106854 FLJ35032;FLJ55807;N2N Notch homolog 2 (Drosophila) N-terminal like;Notch homolog 2 N-terminal like protein;OTTHUMP00000015593;OTTHUMP00000015594;notch homolog 2 N-terminal-like protein APPROVED protein-coding HGNC:31862 14833 VALIDATED 6777890 NOTCH2P1 notch 2 pseudogene 1 1 1 1 118659653 118660274 + 120428929 120429550 + 119886306 119886927 + 100420260 ABBA01068518;AL359752;AMYH02001822;NG_027134 1764519 SHGC-148116 pseudo HGNC:44253 INFERRED 1343413 NOS2P2 nitric oxide synthase 2 pseudogene 2 17 17 17 p11.2 1 2886 + 18400404 18406599 - 18497090 18503285 - 1580863 11525805;12736741;17601350;18977241;7522210;7558036 201288 ABBA01196638;AC107983;AL353997;AMYH02033116;NG_001568;U18332;U18333 AAC50232;AAC50233 NOS2B pseudo HGNC:7874 600719 INFERRED 1354309 NOTCH4 notch 4 This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. This gene may be associated with susceptibility to schizophrenia in a small portion of cases. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33729664 33758884 - 32162620 32191844 - 32194843 32224067 - 1358753;1580863;2302204;2299153;2299156;2299155;2299154;6480689;6480690;6480692;6480775;6480788;6480862;6480790;6480791;6480671;6480691;6480681;6480464;6484113;6907045;8554872 11078798;12589427;14732589;15211628;15531924;16894623;17440163;17761886;18802018;19143814;19546852;20132067;20706108;21297263;21654846;21779181;8030284 10079256;10221902;10645000;10932176;11101851;11112321;11119607;11239712;11381257;11381258;11407996;11518718;11532344;11585921;11803454;11823422;11836628;11901359;11909975;12370315;12477932;12496471;12605097;12627456;12782960;12814948;12873802;14651518;14701863;14730600;14961038;14966150;15009827;15091315;15115916;15187023;15653273;15684396;16007227;16378929;16538185;16969274;17054719;17192952;17452726;17496152;17696940;17822320;17920003;18184405;18239137;18583979;18593923;18663143;19116923;19143821;19156168;19242354;19404845;19503073;19571808;19659809;19851445;20041166;20068161;20069356;20331378;20444726;20467438;20554499;20587610;20596622;20602615;20643108;20673877;20832056;21045140;21085055;21124806;21159651;21203870;21402876;21408207;21602525;21679465;21726900;21804548;21864059;22001063;22066479;22084425;22488909;22641179;22694956;22732452;23015403;23028341;23212060;23237809;23251661;23266558;23318300;23326239;23444212;23450325;23535732;23549433;23566281;23576639;23583980;23587900;23620142;23742774;23749167;23894747;24250222;24305720;24373503;24403446;7671825;7835890;8681805;9168133;9576833;9693032 4855 B4DFM3;Q99466 AB023961;AB024520;AB024578;ABBA01038108;ABBA01038109;AK131314;AK290785;AK293692;AK294161;AL662830;AL662884;AL705928;AL845464;AL845509;AMYH02013469;BC033869;BC063815;BC140782;BC144540;BC144541;BQ023880;BX284686;BX284927;BX927239;CR812478;CR933878;D63395;D86566;NG_028190;NM_004557;U89335;U95299 AAC32288;AAC63097;AAH63815;AAI40783;BAA09708;BAA13116;BAA88951;BAA88952;BAB20317;BAF83474;BAG57129;BAG57484;NP_004548;Q99466 Hs.436100 1340067;1669477;1672022;1773859;1785954;1792292;2106233;2106235;2106237;2106239;2189565;2220318;5015961;7185566 AF021123;AF021125;CTG-NotCH4;D15S1477;D6S1014;D6S2742;D6S2894;D6S2918;D6S2919;NOTCH_4;PMC140667P2;SHGC-145102;WI-12121 FLJ16302;INT3;MGC74442;NOTCH3 Notch homolog 4;OTTHUMP00000029050;neurogenic locus notch homolog protein 4 APPROVED protein-coding ENSG00000204301 HGNC:7884 01290 164951 REVIEWED 733357 NOTCH2 notch 2 This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 1 1 1 p13-p11 118684898 118760431 - 120454176 120639880 - 119911553 120100748 - 1580762;1580763;1580863;69906;2302204;6480464;6484113;6907045;7240710;8554872;8699517 1295745;14726396;16773578;17761886 10079256;10221902;10551863;10958687;11101851;11306509;11346656;11518718;11532344;11577080;11823422;11836628;11978185;12370315;12477932;12531696;12760378;12794074;12931033;1303260;14567914;14609630;14702039;15231748;15302935;15492845;15507668;15565166;15621797;15976178;16289162;16344560;16751776;16899352;17081983;17401372;17573339;17593975;17652726;17675579;17920003;18087195;18184405;18239137;18266235;18311147;18372903;18508802;18567820;18591388;18654987;18703315;18714373;19020323;19020324;19054571;19119320;19139842;19147558;19247373;19276344;19324937;19330030;19339697;19404845;19445024;19453261;19502414;19503073;19602701;19603167;19653042;19670153;19701457;19720844;19741467;19794065;19833888;19862325;19913121;19933996;19946888;20011512;20069356;20075150;20203524;20301450;20351182;20379614;20482849;20571754;20628086;20643108;20712903;20816152;20829885;20879858;20889853;21124806;21139048;21238798;21378985;21378989;21437251;21443520;21466361;21471519;21639801;21681853;21726900;21793104;21890473;21963094;21976141;22006338;22161246;22190591;22209762;22526456;22695918;22717580;22891273;22891276;22915591;22939629;22970250;23000965;23011796;23022380;23243020;23326131;23331119;23349727;23380742;23389697;23401378;23444212;23536545;23549787;23587900;23589286;23752887;23965337;23967108;23999936;24122995;24255178;24337577;24489102;24574459;7698746;8661110;9032325;9244302;9528802;9720489 4853 Q04721;Q6IQ50;Q9UFD5;R4GN02 ABBA01068518;ABBA01068519;AC245008;AF308601;AF315356;AK027869;AK307843;AL049386;AL133036;AL359752;AL512503;AL596222;AMYH02001822;BC071562;BG718124;CH471122;DB290699;GQ231534;NG_008163;NM_001200001;NM_024408;U50549;U77493;X80115;XM_005270901;XM_005270902;XM_006710667 AAA36377;AAB17664;AAB19224;AAG37073;AAH71562;ADB12482;BAB55419;CAB61366;CAH70182;EAW56718;EAW56719;NP_001186930;NP_077719;Q04721;XP_005270958;XP_005270959;XP_006710730 Hs.487360 1340273;1664589;1664591;1681552;1691848;1692136;1692288;1712991;1719557;1720381;1727439;1727441;1727937;1752965;1768332;1770471;1787036;1796414;2118590;2132411 A002B26;AL033805;AL033980;AL034022;Cda0hb04;D1S2696;G19892;G62977;G62978;G63387;NOTCH2_1357;RH120586;RH123510;RH123942;RH69557;SHGC-106854;SHGC-152728;SHGC-54558;SHGC-75400;SHGC-75405 AGS2;HJCYS;hN2 Notch homolog 2;OTTHUMP00000014035;neurogenic locus notch homolog protein 2;notch gene homolog 2, (drosophila) APPROVED protein-coding ENSG00000134250 HGNC:7882 02606 102500;600275;610205 REVIEWED 1348141 NOTO notochord homeobox ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN cilium morphogenesis (inferred); determination of left/right symmetry (inferred); dorsal/ventral pattern formation (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 p13.2 73280211 73289166 + 73429386 73438340 + 73202258 73211212 + 6480464 15231714;15815621 344022 A8MTQ0 ABBA01075579;AC010913;AK295936;AK316410;AMYH02004072;NM_001134462 A8MTQ0;BAG58721;BAH14781;NP_001127934 Hs.694384 OTTHUMP00000225958;homeobox protein notochord;notochord homolog;notochord homolog (xenopus laevis) protein-coding HGNC:31839 PROVISIONAL 1606450 NOTUM notum pectinacetylesterase homolog (Drosophila) ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; 3,4-methylenedioxymethamphetamine (ortholog) 17 17 17 q25.3 76514308 76540092 - 79910383 79919057 - 81952507 81961181 - 6480464 12477932;17207965;18429952 147111 C9JYG8;K7EIG3;Q6P988 AB062438;ABBA01019657;AC145207;AMYH02034146;BC036872;BC060882;BX365997;CH471099;NM_178493 AAH36872;AAH60882;ADQ33021;BAB93501;EAW89729;NP_848588;Q6P988 Hs.106137 1669750;1704530 SGC33854;SHGC-83062 OTTHUMP00000205633;OTTHUMP00000211169;protein notum homolog protein-coding ENSG00000185269 HGNC:27106 14073 609847 VALIDATED 1346053 NOVA1 neuro-oncological ventral antigen 1 This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 14 14 14 q 6779476 6931361 - 26915089 27067239 - 26445883 26598027 - 1580863;6480464;8554872 10368286;10719891;10737800;12477932;12808107;15146197;15489334;16041372;16169070;16713569;18029348;18218628;18822086;19584346;19680635;21832049;21900206;23602568;8398153;8558240;9154818 4857 B7Z770;F8VW64;F8VWX1;F8VYI3;F8W659;G8JLA5;H0YHZ1;I3L2B5;J3KQU3;P51513 ABBA01061362;ABBA01061363;AI569678;AK226114;AK289639;AK291022;AK291468;AK301526;AL079343;AL132716;AMYH02028894;AMYH02028895;AMYH02028896;AMYH02028897;BC075038;BC075039;BE644739;BE762927;BX431656;CH471078;CN409914;NM_002515;NM_006489;NM_006491;R60636;U04840;XM_005267707;Z70771 AAA16022;AAH75038;AAH75039;BAF82328;BAF83711;BAF84157;BAH13506;CAA94810;EAW65990;EAW65991;EAW65992;EAW65993;EAW65994;EAW65995;NP_002506;NP_006480;NP_006482;P51513;XP_005267764 Hs.31588 1720879;1855197;2113644;2219192 G59267;NOVA1__6065;RH66321;UniSTS:479181 Nova-1 OTTHUMP00000028191;OTTHUMP00000178762;OTTHUMP00000243488;OTTHUMP00000243489;OTTHUMP00000243490;OTTHUMP00000243492;OTTHUMP00000243493;RNA-binding protein Nova-1;onconeural ventral antigen 1;paraneoplastic Ri antigen;ventral neuron-specific protein 1 APPROVED protein-coding ENSG00000139910 HGNC:7886 03693 602157 REVIEWED 1317566 NOVA2 neuro-oncological ventral antigen 2 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of RNA metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; benzo[a]pyrene 19 19 19 q13.3 43247770 43281664 - 46442771 46476657 - 45933734 45973399 - 1580863;6480464;8554872 10368286;10676814;10735272;15057824;17436242;18029348;9344654;9789075 4858 M0R1A0;Q9UNW9 ABBA01040957;ABBA01040958;ABBA01040959;AC006540;AC008623;AC011545;AF083898;AI990298;AMYH02036212;AMYH02036213;BQ631784;CH471126;NM_002516;U70477;XM_006723229;XM_006723230 AAB88661;AAC72355;AAD13116;AAF98365;AAI68367;EAW57397;NP_002507;Q9UNW9;XP_006723292;XP_006723293 Hs.375439 1674462 WI-14082 NOVA3 ANOVA;RNA-binding protein Nova-2;astrocytic NOVA1-like RNA-binding protein;neuro-oncological ventral antigen 3 protein-coding HGNC:7887 03588 601991 VALIDATED 732308 NOX1 NADPH oxidase 1 This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012] X X X q22 100617105 100648120 - 100098313 100129334 - 100843324 100874345 - 633401;1580972;1580863;1580973;6480464;8554872 10485709;16214837;16380495 10615049;10974555;11331784;11805326;11970839;11970841;12477932;12657628;12716910;12817011;12955083;14617635;14670934;14674687;15102091;15110393;15203187;15256399;15322091;15375166;15389790;15452132;15489334;15509740;15708375;15772651;15797632;15847608;15993942;16049136;16162660;16329988;16468977;16469512;16507994;16636067;16762923;16778989;16880255;17015444;17079781;17182005;17200123;17336700;17460729;17562703;17611574;17673675;17908694;17913709;17963706;18005670;18023288;18037128;18055552;18073139;18076063;18287880;18309110;18331504;18347018;18397177;18398843;18429753;18436303;18454176;18463161;18463417;18518859;18535108;18571150;18620548;19028840;19061439;19084060;19095734;19130504;19213944;19251588;19268528;19282028;19339277;19344766;19379824;19415232;19451223;19531958;19671250;19755710;19781192;19834108;19843513;19941336;20018867;20056178;20110267;20171273;20177149;20194723;20346360;20347035;20407038;20457132;20501406;20523355;20525691;20617170;20715105;20818133;20919940;20943948;21029719;21167810;21176887;21181544;21237524;21326871;21483469;21507984;21629295;21723410;21877197;21918473;22277655;22329647;22487967;22513785;22589701;22640231;22773830;22918955;23056263;23077033;23241962;23261940;23322165;23349388;23410839;23564668;23627409;23801050;23828587;23931157;23957209;24334927;24365146;24792722;9882350 27035 A6NGA6;H0Y581;Q1ZYL4;Q5H9D4;Q9Y5S8 ABBA01064123;ABBA01064124;ABBA01064125;AF127763;AF166326;AF166327;AF166328;AI285296;AJ438989;AK292201;AK313678;AMYH02040060;BC075014;BC075015;BX956931;CH471115;DQ314883;DQ424904;NG_012567;NM_001271815;NM_007052;NM_013955;Z83819 AAD38133;AAF23232;AAF23233;AAF23234;AAH75014;AAH75015;ABC40742;ABD83669;BAF84890;CAD27735;EAX02820;EAX02821;EAX02822;EAX02823;EAX02824;NP_001258744;NP_008983;NP_039249;Q9Y5S8 Hs.592227 1793520 PMC228420P1 GP91-2;MOX-1;MOX1;NOH-1;NOH1;NOX-1 NADH/NADPH mitogenic oxidase subunit P65-MOX;NADPH oxidase 1 variant NOH-1L;NADPH oxidase homolog-1;OTTHUMP00000023657;OTTHUMP00000023659;mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating);mitogenic oxidase 1 APPROVED protein-coding ENSG00000007952 HGNC:7889 02203 300225 REVIEWED 1353478 NOX5 NADPH oxidase, EF-hand calcium binding domain 5 This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 15 15 15 q23 46111968 46238841 + 69222839 69349501 + 68930500 69057161 + 1580863;6480464;8554872 11376945;11483596;12121572;12186557;12477932;12975309;14702039;14982937;15509740;15994299;16177112;16179589;16339585;16344560;16707484;16873416;17089090;17122966;17164239;17214994;17275676;17346712;17587483;17603936;17947454;18466778;18468509;18614798;18672905;20056178;20086178;20230798;20339118;20576920;21297032;21319793;21483469;21525435;21527745;21901141;22182486;22291013;22387196;22427510;22503554;23023377;23030296;23118302;23251661;23439561;24262797;24505490;9882350 79400 A3QRJ0;Q96PH1 ABBA01038770;AC027088;AC087639;AF317889;AF325189;AF325190;AF353088;AF353089;AI091544;AK026011;AK074058;AK074071;AK314689;AMYH02030694;AMYH02030695;AY166601;BC125097;BC125098;DA739867;DA868876;DQ314884;DQ413001;KF573682;NG_030464;NM_001184779;NM_001184780;NM_024505;NR_033671;NR_033672 AAG33638;AAI25098;AAI25099;AAK57193;AAK57194;AAK57338;AAK57339;AAO33926;ABC40743;ABD92513;BAB15319;BAB84884;BAB84897;BAG37241;NP_001171708;NP_001171709;NP_078781;Q96PH1 Hs.657932 1756583;1783314;2185493 SHGC-143620;SHGC-84716;STS-H15004 MGC149776;MGC149777;NOX5A;NOX5B NADPH oxidase 5;OTTHUMP00000164443;OTTHUMP00000164444;OTTHUMP00000164445;OTTHUMP00000229833;nadph oxidase, ef hand calcium-binding domain 5 APPROVED protein-coding ENSG00000255346 HGNC:14874 07359 606572 REVIEWED 1315446 NOXA1 NADPH oxidase activator 1 This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 9 9 9 q34.3 110821880 110855036 + 140317847 140328858 + 137423395 137434467 + 1580863;6480464;8554872 12473664;12477932;12657628;12716910;14702039;16052631;16636067;16713569;17189823;17602954;17913709;18568954;18606821;19755710;20083677;20110267;20230789;20454568;20467438;20609497;20943948;21078624;21988832;22244833;23864022;23957209;24187133;9610721 10811 Q86UR1 AB095031;ABBA01022770;ABBA01022771;AF039697;AI860821;AK055812;AK098341;AMYH02021935;AMYH02021936;AY255769;AY927790;AY927791;BC041594;BC110840;BX322799;NM_001256067;NM_001256068;NM_006647;XM_006716937 AAC18046;AAH41594;AAI10841;AAP13480;AAY16126;AAY16127;BAC76710;NP_001242996;NP_001242997;NP_006638;Q86UR1;XP_006717000 Hs.495554 FLJ25475;MGC131800;NY-CO-31;SDCCAG31;p51NOX NCF2-like protein;Nox activator 1;OTTHUMP00000162588;antigen NY-CO-31;inhibitory NADPH oxidase activator 1;p51-nox;p67phox-like factor;serologically defined colon cancer antigen 31 APPROVED protein-coding ENSG00000188747 HGNC:10668 17644 611255 REVIEWED 732996 NOV nephroblastoma overexpressed The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009] 8 8 8 q24.1 116617968 116626094 + 120428552 120436678 + 119416312 119424438 + 1580971;1580863;6480464 16675545 10084601;10474687;10852911;11502835;11891184;12050162;12147716;12477932;12519873;12695522;12902636;1334251;14519668;14606958;15053922;15181016;15340161;15489334;15611078;15647383;15824736;16145471;16344560;16600215;16670264;17101694;17163153;17340618;17463287;17566092;17968313;18029348;18066593;18089610;18245471;18245529;18418052;18984771;19286457;19695675;19706598;19834535;20010302;20139355;20182440;20237132;20336664;20800603;21145881;21209863;21344378;21423212;21514448;21784733;21898398;21909110;21988832;22345292;22507556;23061738;23220688;23318417;23536580;23705021;23785511;24258112;24308033;24406215;24431313;24719190;7520150;8622864;8756624;9927660 4856 P48745 ABBA01037815;AC021733;AK294289;AK312355;AMYH02018675;AY082381;BC015028;CH471060;CR457432;CS021388;DA162276;NG_009779;NM_002514;X78351;X96584 AAH15028;AAL92490;ABM82105;ABM85287;BAG35274;BAG57572;CAA55146;CAA65403;CAG33713;CAI58925;EAW91984;EAW91985;NP_002505;P48745 Hs.235935 2109571 NOV_8510 CCN3;IBP-9;IGFBP-9;IGFBP9;NOVh CCN family member 3;IGF-binding protein 9;OTTHUMP00000228107;insulin-like growth factor-binding protein 9;nephroblastoma-overexpressed gene protein homolog;protein NOV homolog APPROVED protein-coding ENSG00000136999 HGNC:7885 01291 164958 REVIEWED 1348173 NOXRED1 NADP-dependent oxidoreductase domain containing 1 ENCODES a protein that exhibits pyrroline-5-carboxylate reductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); proline biosynthetic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH hydroquinone O-beta-D-glucopyranoside 14 14 14 q24.3 57899001 57927942 - 77859827 77890225 - 77393484 77423882 - 6480464;8554872 12477932;12508121;14702039;15489334;16344560;17207965 122945 G3V2D4;Q6NXP6 ABBA01030648;ABBA01030649;ABBA01030650;ABBA01030651;AC007954;AF111168;AK057371;AMYH02029570;AMYH02029571;BC066965;BI829015;CH471061;DB021944;HC006808;HC044735;NM_001113475;XM_005267330;XM_005267331 AAD09625;AAF62562;AAH66965;ADQ32961;BAG51909;CBH19210;CBH30697;EAW81285;NP_001106946;Q6NXP6;XP_005267387;XP_005267388 Hs.97556 1677838 RH98371 C14orf148;FLJ32809 NADP-dependent oxidoreductase domain-containing protein 1;OTTHUMP00000246418;pyrroline-5-carboxylate reductase-like protein C14orf148 APPROVED protein-coding ENSG00000165555 HGNC:20487 08140 VALIDATED 1351928 NPAP1 nuclear pore associated protein 1 This gene is located in the Prader-Willi syndrome region on chromosome 15. This gene is biallelically expressed in adult testis and brain but is paternally imprinted in fetal brain. Defects in this gene may be associated with Prader-Willi syndrome. [provided by RefSeq, Aug 2012] 15 15 15 q11-q13 3083541 3091593 + 24920541 24928593 + 24675394 24683446 + 8554872 10783265;17337158;18627056;18976975;19066619;19843651;20020165;20301505;22694955;24024966;24482533 23742 Q9NZP6 ABBA01048688;AC100720;AF179681;AMYH02030090;CH471151;NG_021413;NM_018958 AAF72107;AAI48367;EAW57612;NP_061831;Q9NZP6 Hs.649663 1783170 SHGC-112390 C15orf2 OTTHUMP00000159462;nuclear pore-associated protein 1 APPROVED protein-coding ENSG00000185823 HGNC:1190 08506 610922 REVIEWED 7207016 NPAP1P1 nuclear pore associated protein 1 pseudogene 1 10 10 10 75611794 75612676 + 52456027 52456909 + 50696267 50697149 + 100420827 ABBA01078429;AL589794;AMYH02023055;NG_025503 pseudo HGNC:45018 INFERRED 7206909 NPAP1P2 nuclear pore associated protein 1 pseudogene 2 10 10 81621018 81621893 + 79861262 79862137 + 100420829 AL135925;AL512662;AMYH02023411;NG_025525 pseudo HGNC:45019 INFERRED 7206874 NPAP1P3 nuclear pore associated protein 1 pseudogene 3 10 10 89137330 89138205 + 87377573 87378448 + 100420830 AL645612;AMYH02023500;NG_025530 pseudo HGNC:45020 INFERRED 7206877 NPAP1P4 nuclear pore associated protein 1 pseudogene 4 9 9 82972021 82975133 - 80357106 80360218 - 100533674 ABBA01033961;AL354937;AMYH02021067;NG_028721 pseudo HGNC:45021 INFERRED 1317206 NOXO1 NADPH oxidase organizer 1 This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012] 16 16 16 p13.3 2241097 2243619 - 2028918 2031704 - 1978917 1981703 - 1580863;6480464 12473664;12477932;12657628;12716910;14617635;15181005;15326186;15489334;15507761;15824103;15949904;16329988;16344560;16460309;16636067;16911517;17126813;17189823;17963706;18037128;19755710;20454568;21188560;22342885;22547655;23322165;23957209;23975421 124056 A8K832;H3BN18;Q8NFA2 AB097667;ABBA01030284;AC005606;AF532983;AF532984;AF532985;AF539796;AK292197;AK310198;AK313917;AMYH02031241;AY191359;AY255768;BC015917;CH471112;DB009385;NM_001267721;NM_144603;NM_172167;NM_172168;XM_005255099 AAH15917;AAM97925;AAM97926;AAM97927;AAN75141;AAO38665;AAP13479;BAC76711;BAF84886;EAW85581;EAW85582;EAW85583;EAW85584;NP_001254650;NP_653204;NP_751907;NP_751908;Q8NFA2;XP_005255156 Hs.191762 1657493 SHGC-60750 MGC20258;P41NOX;P41NOXA;P41NOXB;P41NOXC;SH3PXD5;SNX28 NADPH oxidase regulatory protein;Nox organizer 1;OTTHUMP00000158893;OTTHUMP00000158894;OTTHUMP00000158895;SH3 and PX domain-containing protein 5;nox-organizing protein 1;regulatory protein P41NOX APPROVED protein-coding ENSG00000196408 HGNC:19404 14834 611256 REVIEWED 7206879 NPAP1P5 nuclear pore associated protein 1 pseudogene 5 9 9 9 1 874 + 90470495 90471501 - 87855580 87856586 - 100420671 ABBA01016329;AL772337;AMYH02021166;NG_023843 pseudo HGNC:45022 INFERRED 7206908 NPAP1P6 nuclear pore associated protein 1 pseudogene 6 9 9 82477935 82481790 + 79863020 79866875 + 100533675 ABBA01033960;AL161912;AMYH02021065;NG_028726 pseudo HGNC:45023 INFERRED 1351952 NOX3 NADPH oxidase 3 This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 2009] 6 6 6 q25.3 156450814 156511369 - 155716502 155777037 - 155395368 155455903 - 1580863;6480464;8554872 10974555;11376945;14574404;15181005;15509740;15824103;16507994;16949073;17140397;17336700;18682798;19056867;19913121;19941336;20056178;20102709;20628086;20647313;21483469;21901141;22277655;9882350 50508 Q9HBY0 ABBA01025582;AF190122;AF229177;AL031773;AMYH02014791;CH471051;FB293916;NG_011995;NM_015718 AAG15435;AAG17121;AAI60172;CAP47045;EAW47689;NP_056533;Q9HBY0 Hs.247776 1338224;7186240 D6S442 GP91-3;MOX-2 NADPH oxidase catalytic subunit-like 3;OTTHUMP00000017475;gp91phox homolog 3;mitogenic oxidase 2 APPROVED protein-coding ENSG00000074771 HGNC:7890 06165 607105 REVIEWED 1320711 NPAS1 neuronal PAS domain protein 1 The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008] 19 19 19 q13.2-q13.3 44328506 44352897 + 47523077 47549033 + 47020886 47045775 + 1580863;6480464 12477932;15489334;15635607;9012850;9079689 4861 M0QX32;M0R1R8;M0R2M8;Q99742 AB054002;ABBA01040999;ABBA01041000;AC008755;AK299128;AMYH02036243;AMYH02036244;BC039016;CH471126;KF456589;KF510459;NM_002517;U51628;U77968;XM_006723231 AAB47248;AAC51214;AAH39016;BAB21098;BAG61181;EAW57454;NP_002508;Q99742;XP_006723294 Hs.79564 MOP5;PASD5;bHLHe11 PAS domain-containing protein 5;basic-helix-loop-helix-PAS protein MOP5;class E basic helix-loop-helix protein 11;member of PAS protein 5;member of PAS superfamily 5;neuronal PAS domain-containing protein 1;neuronal PAS1 APPROVED protein-coding ENSG00000130751 HGNC:7894 09136 603346 REVIEWED 1320157 NPAS2 neuronal PAS domain protein 2 The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 95641227 95817201 + 101436613 101613289 + 100820151 100996827 + 1580863;6480464;8554872 10864874;11439184;11441146;11441147;12477932;12655319;14645221;14702039;15489334;16528748;16628007;16969126;17096334;17264841;17453337;17457720;17984998;18819933;18990770;19457610;19470168;19649706;19693801;19839995;19913121;19934327;20072116;20095854;20149345;20174623;20180986;20211142;20368993;20554694;20628086;20817722;21140207;21912186;21988832;22137330;22538398;23449886;24722188;24978311;8889548;9012850;9079689;9576906 4862 A2I2P5;H7BZA3;H7BZY5;H7C080;H7C0J4;H7C0Z2;Q99743 ABBA01073920;ABBA01073921;AC016738;AC092168;AC106891;AK026791;AK091939;AK095806;AK128586;AK226093;AK294733;AMYH02004415;AMYH02004416;AMYH02004417;AMYH02004418;BC028107;BC035412;BC051351;BC072383;BM724652;BX640699;CH471127;EF015903;KJ534892;NG_023259;NM_002518;U51625;U77970;XM_005263953;XM_005263954;XM_005263955;XM_005263957;XM_005263958;XM_005263959;XM_005263960;XM_005263961 AAB47250;AAC51211;AAH28107;AAH51351;AAH72383;AAX88966;AAY14822;ABM64214;AHW56532;BAB15554;BAH11862;EAX01830;EAX01831;EAX01832;EAX01833;EAX01834;EAX01835;NP_002509;Q99743;XP_005264010;XP_005264011;XP_005264012;XP_005264014;XP_005264015;XP_005264016;XP_005264017;XP_005264018 Hs.156832;Hs.705895 1652042;1652658;1653972;1656236;1705288;1708602;1754635;1793090;1854739;2123551;2128053;2131511;2143293;2182931;2184158;5022450;5037552;5124456 D10S275;D8S2279;PMC19579P4;RH16198;RH17865;RH45156;RH71260;RH77872;RH79879;SGC34754;SHGC-132981;SHGC-33168;SHGC-34190;SHGC-36364;SHGC-58283;SHGC-78601;SHGC-85091;WI-17613 FLJ23138;MGC71151;MOP4;PASD4;bHLHe9 OTTHUMP00000161260;PAS domain-containing protein 4;basic-helix-loop-helix-PAS protein MOP4;class E basic helix-loop-helix protein 9;member of PAS protein 4;member of PAS superfamily 4;neuronal PAS domain-containing protein 2;neuronal PAS2 APPROVED protein-coding ENSG00000170485 HGNC:7895 09137 603347 REVIEWED 734007 NPAS4 neuronal PAS domain protein 4 NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008] 11 11 11 q13 63508508 63514210 + 66188475 66194177 + 66421004 66426706 + 6480464;8554872 12477932;14701734;14702039;15489334;21926972;24465693 266743 Q8IUM7 AB049469;ABBA01024079;AK094025;AK096253;AMYH02024979;AP001107;BC105001;BC105003;BC143630;CH471076;NM_178864 AAI05002;AAI05004;AAI43631;ABZ92417;BAC04271;BAC04738;BAC19830;EAW74525;NP_849195;Q8IUM7 Hs.256036 1769312;2109589 D11S1052;NXF__6089 Le-PAS;NXF;PASD10;bHLHe79 HLH-PAS transcription factor NXF;OTTHUMP00000234877;PAS domain-containing protein 10;class E basic helix-loop-helix protein 79;neuronal PAS domain-containing protein 4;neuronal PAS4 APPROVED protein-coding ENSG00000174576 HGNC:18983 12260 608554 VALIDATED 1316218 NPAS3 neuronal PAS domain protein 3 This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and mental retardation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 14 14 14 q13.1 13273962 14138956 + 33404115 34273382 + 32934909 33804176 + 1580863;6480464;8554872 10534623;12477932;12746393;14702039;15820313;17008307;18029348;18195134;18317462;18519826;18521090;18711365;19073416;19073419;19573479;19913121;20379614;20466522;20628086;20713499;21306425;21703424;21709683;22228203;22228753;23337948;23408798;23817569;24218632;24324551;24722188 64067 F8VR32;F8VS42;F8W0C2;H0YHB6;H0YHU7;H0YI42;Q8IXF0;X5D2Q4;X5D988 AB054575;AB054576;AB055962;ABBA01061440;ABBA01061441;ABBA01061442;ABBA01061443;ABBA01061444;ABBA01061445;AF164438;AI811363;AK000865;AK002000;AK021667;AL079281;AL109769;AL133305;AL139296;AL157689;AL158802;AL161851;AL355886;AMYH02028968;AMYH02028969;AMYH02028970;AMYH02028971;AMYH02028972;AMYH02028973;AMYH02028974;AMYH02028975;AMYH02028976;AY157302;AY157303;BC035075;CH471078;KC877517;KC877522;KC877528;KF455852;KF455854;KJ534893;KJ534894;KJ534895;KJ534896;KJ534897;KJ534898;KJ535018;KJ535019;KJ535078;NG_013036;NM_001164749;NM_001165893;NM_022123;NM_173159;XM_005267991;XM_005267992;XM_005267993 AAG35180;AAI46318;AAO17043;AAO17044;AHW56533;AHW56534;AHW56535;AHW56536;AHW56537;AHW56538;AHW56657;AHW56658;AHW56717;BAB21221;BAC53754;BAC53756;CAB45154;EAW65930;NP_001158221;NP_001159365;NP_071406;NP_775182;Q8IXF0;XP_005268048;XP_005268049;XP_005268050 Hs.657892;Hs.675437;Hs.675475 1334793;1340348;1342331;1643844;1656715;1658093;1665358;1667725;1669726;1686212;1694848;1705126;1709810;1709812;1713475;1715265;1717251;1719303;1720161;1727835;1747615;1751837;1754915;1755895;1763859;1766345;1796418;1855248;2113870;2119696;2120778;2136379;2144992;2157321;2167800;2180813;2181041;5014051;5037552;5093050 A003N09;A009E43;AB056404;D14S1060;D14S1149;D14S49;D14S626;D14S730;D14S741;D14S757;D14S871;D8S2278;D8S2279;G17792;G31096;G32490;G35881;G35971;G36062;G36320;G44292;G63183;G65514;NPAS3_954;RH119883;RH120221;RH122040;RH123374;RH123991;RH78505;RH92309;SHGC-105840;SHGC-141843;SHGC-142733;SHGC-147523;SHGC-149686;SHGC-79994;SHGC-84722;SHGC-84723;WI-13708 FLJ10003;FLJ11138;FLJ11605;MOP6;PASD6;bHLHe12 OTTHUMP00000178811;OTTHUMP00000178812;OTTHUMP00000243961;OTTHUMP00000243962;OTTHUMP00000243963;OTTHUMP00000243964;PAS domain-containing protein 6;basic-helix-loop-helix-PAS protein MOP6;class E basic helix-loop-helix protein 12;member of PAS protein 6;neuronal PAS domain-containing protein 3;neuronal PAS3 APPROVED protein-coding ENSG00000151322 HGNC:19311 11400 609430 REVIEWED 736156 NPB neuropeptide B Neuropeptide B (NPB) is an endogenous peptide ligand for G protein-coupled receptor-7 (GPR7; MIM 600730).[supplied by OMIM, Apr 2004] 17 17 17 q25.3 76464079 76464788 + 79860072 79860781 + 81902196 81902905 + 6480464 12118011;12401809;12477932;15489334;18240029;18577758;8889548 256933 I3NI19;Q8NG41 AB085942;ABBA01019652;AC145207;AF525737;AF525738;AMYH02034143;BC033173;BC126128;BC126485;BC146875;BC146890;BM978256;CH471099;NM_148896 AAI26129;AAI26486;AAI46876;AAI46891;AAP80794;AAP80795;BAC07175;EAW89704;NP_683694;Q8NG41 Hs.569843;Hs.708916 2220396;5493747 UniSTS:481341;UniSTS:494523 L7;PPL7;PPNPB;hPPL7 prepro-NPB;preproneuropeptide B;preproprotein L7 APPROVED protein-coding ENSG00000183979 HGNC:30099 16267 607996 VALIDATED 1323667 NPAT nuclear protein, ataxia-telangiectasia locus ENCODES a protein that exhibits protein C-terminus binding; protein N-terminus binding; transcription coactivator activity; INVOLVED IN positive regulation of transcription, DNA-templated; regulation of gene expression; regulation of transcription involved in G1/S transition of mitotic cell cycle; FOUND IN Cajal body; cytoplasm; Gemini of coiled bodies; INTERACTS WITH clorgyline; formaldehyde; methyl methanesulfonate 11 11 11 q22-q23 105183023 105248316 - 108028117 108093365 - 108157390 108222638 - 6480464 10995386;10995387;12473189;12477932;12665581;12724424;12887926;14585971;14612403;15555599;15988025;16344560;17068332;17163457;17449237;17577209;17967892;17974976;18677100;18850719;19170105;19277982;19471022;19692168;19890848;19913121;20190802;20628086;21050672;21562039;21693764;21906983;21963094;22145905;22288532;22885324;24250222;8743993;8789452;8923007;9199932;9205109;9472014 4863 E9PKJ1;H0YET3;Q14207 ABBA01039868;AK290020;AK291687;AK301256;AMYH02025546;AP001925;AP002433;BC040356;BC050561;BC094769;BC136270;CH471065;D83243;D89854;DA338219;NM_002519;U58852;U82828;X91196;X97186 AAB02735;AAB65828;AAH40356;AAH50561;AAI36271;BAA11861;BAA21367;BAF82709;BAF84376;BAG62823;CAA62602;CAA65824;EAW67106;EAW67107;NP_002510;Q14207 Hs.171061;Hs.367437 1687071;1787940;1789282;1789284;1789729;2111794;2175845;2190233;2190235;5016478;5020948;7185924 ATM_exon1a;ATM_exon1b1;D11S384;D11S4485;G35510;G67874;G67879;GDB:434012;RH93618;SHGC-171772;WI-10358;csnpatm-pcr1-1 E14;E14/NPAT;p220 OTTHUMP00000232766;nuclear protein of the ATM locus;nuclear protein of the ataxia telangiectasia mutated locus protein-coding ENSG00000149308 HGNC:7896 03266 601448 VALIDATED 1349448 NPBWR2 neuropeptides B/W receptor 2 The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor. The encoded protein is similar in sequence to another G protein-coupled receptor (GPR7), and it is structurally similar to opioid and somatostatin receptors. This protein binds neuropeptides B and W. This gene is intronless and is expressed primarily in the frontal cortex of the brain. [provided by RefSeq, Jul 2008] 20 20 20 q13.3 59425680 59426681 - 62737183 62738184 - 64105830 64106831 - 1580863;6480464 11780052;12130646;12401809;12477932;12719537;15797961;17207965;18240029;18577758;2834384;7590751 2832 P48146;Q6NWQ5 ABBA01018567;AL121581;AMYH02037484;BC067481;BC067482;BC067483;CH471077;NM_005286;U22492 AAC50198;AAH67481;AAH67482;AAH67483;ADQ32076;EAW75161;NP_005277;P48146 Hs.248118 1677188;5492575 RH70583;UniSTS:481713 GPR8 G protein-coupled receptor 8;G-protein coupled receptor 8;OTTHUMP00000031647;neuropeptides B/W receptor type 2;opioid-somatostatin-like receptor 8 APPROVED protein-coding HGNC:4530 02841 600731 REVIEWED 732750 NOTCH3 notch 3 This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008] 19 19 19 p13.2-p13.1 15166185 15207451 - 15270444 15311792 - 15159633 15200981 - 625426;1580764;1580765;1580766;1580767;1580768;1580769;1334441;1580863;2302204;2306423;6480464;6484113;6907045;7240710;8554872;8699517 11861701;11971902;12810003;15247148;15304596;15378071;15694192;17761886;8878478;9388399 10079256;10712431;10716263;10802807;11006133;11032621;11101851;11404076;11518718;11559313;11706120;11891328;11978185;12134625;12136071;12210282;12370315;12480758;12482954;12511775;12678157;14714274;14767686;15057824;15096408;15987768;16009764;16107360;16426270;16492242;16717210;16796587;16807713;16833034;16899352;16998728;17158237;17289033;17292860;17301032;17331978;17390743;17474147;17573339;17690848;17696940;17804716;17822320;17822871;17853970;17854869;17878719;17920003;17939118;17996090;18022198;18060036;18069660;18075987;18184405;18339869;18483410;18499132;18572291;18626519;18632624;18758477;18765654;18941948;18948701;18974129;19006080;19018300;19043263;19054571;19056668;19139365;19150886;19167727;19174371;19208840;19242647;19293235;19372454;19373490;19404845;19417009;19503073;19576955;19603167;19735738;19816816;19825845;19835636;19855400;19859875;19881544;19913121;19966856;20038773;20040020;20069356;20167921;20169447;20301673;20329594;20359736;20472562;20554499;20614134;20624166;20628086;20628624;20634891;20651241;20671266;20689064;20801121;20813781;20819128;20935329;21078731;21103979;21118965;21124806;21139048;21169401;21217157;21245095;21409506;21471519;21502811;21508102;21551231;21602525;21616505;21628316;21673954;21702048;21705670;21726900;21743488;21852154;21890473;21890822;21900206;21920521;21940234;21940951;21951372;21988832;22006983;22079340;22079830;22082899;22117196;22120716;22133740;22153798;22153900;22159056;22204979;22218279;22292737;22310065;22367839;22396495;22422895;22493555;22526456;22623959;22664156;22705236;22806125;22948298;23010708;23019585;23022380;23028706;23036509;23226563;23314443;23319290;23412372;23444212;23460375;23465844;23468978;23492684;23572112;23584202;23587639;23602593;23610446;23637910;23645556;23649002;23649698;23729168;23747483;23773728;23836039;23845442;23847153;23975424;23999936;24086431;24139282;24143218;24367688;24525742;24743243;24984200;4557798;7698746;7835890;8485581;8794055 4854 M0QX38;M0QZN3;M0R3C9;Q9UM47 AB209447;ABBA01051097;ABBA01051098;ABBA01051099;ABBA01051100;ABBA01051101;ABBA01051102;ABBA01051103;ABBA01051104;ABBA01051105;AC004257;AC004663;AF058900;AMYH02035643;AMYH02035644;CH471106;DQ156540;DQ156541;DQ156542;DQ156543;NG_009819;NM_000435;U97669;X79439;XM_005259924 AAB91371;AAC04897;AAC14346;AAC15789;BAD92684;CAA55955;EAW84466;NP_000426;Q9UM47;XP_005259981 Hs.8546 1336222;1725763;1791720;1796416;1854769;2158651 D19S1009;D19S923;G62127;NOTCH3_362;PMC122602P1;SHGC-57293 IMF2 CADASIL;CASIL;Notch homolog 3;neurogenic locus notch homolog protein 3 APPROVED protein-coding ENSG00000074181 HGNC:7883 02607 125310;600276;615293 REVIEWED 1345181 NPC1L1 NPC1-like 1 The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 7 7 7 p13 44651139 44679899 - 44552134 44580914 - 44512535 44541315 - 1580863;1642184;1642185;1642183;6480464;8554872 15671032;17218600;17292734 10783261;12477932;12690205;14976318;15604518;15679830;15790807;15928087;16098225;16297596;16449388;16518588;16829661;17005902;17102949;17140581;17571164;17662536;18031309;18080173;18373109;18403720;18413323;18522826;18522832;18641187;18641716;18783541;18850127;19071091;19265861;19325169;19443194;19542231;19747803;19752398;19823104;19913121;20144195;20222991;20379057;20460578;20628086;20679960;20686565;20855565;20953676;21187433;21189420;21525977;21602275;21683156;22095670;22579005;22646906;22749558;23139223;23415434;24097068;24554660;24639526;24891511;24974575 29881 Q9UHC9 ABBA01058219;AC004938;AF192522;AF192523;AMYH02015620;AY437865;AY515256;AY927603;BC117178;BC143731;BC143756;CH236960;CH471128;FJ481111;NG_013088;NM_001101648;NM_001300967;NM_013389;XM_006715709 AAF20396;AAF20397;AAI17179;AAI43757;AAR97886;AAS56939;ACL18055;EAL23753;EAW61096;EAW61097;EAW61098;NP_001095118;NP_001287896;NP_037521;Q9UHC9;XP_006715772 Hs.567486 1650104;1659385;2110603;2179517 D7S2697;NPC1L1_9593;RH46066;SGC38249 NPC11L1 NPC1 (Niemann-Pick disease, type C1, gene)-like 1;Niemann-Pick C1-like protein 1;OTTHUMP00000159465;OTTHUMP00000207702 APPROVED protein-coding ENSG00000015520 HGNC:7898 09725 608010 REVIEWED 1353089 NPC2 Niemann-Pick disease, type C2 This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 54985030 54998469 - 74942900 74960084 - 74479940 74493381 - 1601483;6480464;7240710;8554872;8699517 11567215 10479477;11125141;12125814;12398991;12447927;12477932;12591949;12719428;14662784;15110773;15489334;15937921;16141411;16374838;16548883;16606609;16772431;1693137;17018531;17387528;17470133;17895371;18029348;18636124;18772377;18823126;19252935;19664597;19723497;19746448;19913121;20007703;20301334;20301473;20628086;20650896;20674861;21084287;21253586;21740003;21811417;22179027;22183894;22273177;22939629;22962690;22990118;23000965;23022198;23733943;23791309;23814065;24001314;24438076;24501203;8125298;8418812;8924505 10577 E7EMS2;G3V2V8;G3V3D1;G3V3E8;H0YIZ1;H0YJE2;J3KMY5;P61916 ABBA01030717;AC005479;AK222474;AK298975;AK300879;AK311931;AMYH02029519;BC002532;CH471061;NG_007117;NM_006432;X67698;XM_006720004 AAH02532;ABM82833;ABM86019;BAD96194;BAG34872;BAG61069;BAG62522;CAA47928;EAW81176;EAW81177;EAW81178;NP_006423;P61916;XP_006720067 Hs.433222 1677971;1754069;2122611;2139216;5014713 G38283;RH65075;RH70872;SHGC-12718;SHGC-132103 EDDM1;HE1;MGC1333;NP-C2 OTTHUMP00000245451;OTTHUMP00000245452;OTTHUMP00000245453;OTTHUMP00000245455;OTTHUMP00000245456;OTTHUMP00000245457;OTTHUMP00000245458;epididymal protein 1;epididymal secretory protein E1;human epididymis-specific protein 1;niemann-Pick disease type C2 protein;tissue-specific secretory protein APPROVED protein-coding ENSG00000119655 HGNC:14537 03008 601015;607625 REVIEWED 1314235 NPBWR1 neuropeptides B/W receptor 1 ENCODES a protein that exhibits neuropeptide receptor activity (inferred); opioid receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH arsenite(3-); atrazine; C60 fullerene (ortholog) 8 8 8 p22-q21.13 49843313 49844299 + 53852468 53853454 + 52939908 52940894 + 1580863;6480464;8554872 12118011;12130646;12401809;12477932;12719537;15607941;15797961;17437806;18240029;18577758;22545105;23563248;24081945;7590751 2831 H9NIL7;P48145 ABBA01041710;AC087348;AMYH02017979;BC069117;BC107101;CH471068;JQ308172;NM_005285;U22491 AAC50197;AAH69117;AAI07102;AFF59482;EAW86722;NP_005276;P48145 Hs.248117 2132985;5492573 RH71213;UniSTS:481712 GPR7;MGC129755 G protein-coupled receptor 7;G-protein coupled receptor 7;OTTHUMP00000226312;neuropeptide B/W receptor 1;neuropeptides B/W receptor type 1;opioid-somatostatin-like receptor 7 protein-coding HGNC:4522 02840 600730 VALIDATED 731542 NOX4 NADPH oxidase 4 This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009] 11 11 11 q14.2-q21 85399612 85574418 + 89057521 89322779 - 89324353 89589611 - 1580980;1580863;2324658;2324673;2324659;2324666;2324669;2324670;4762683;6480464;8554872 15802177;16135519;17511984;18418428;18438942;18952568;19620512;19686728 10869423;11032835;11376945;11997235;12477932;12482831;14670934;14702039;14966267;15102091;15155719;15210697;15256399;15322091;15356101;15489334;15509740;15572675;15618545;15706079;15721269;15883163;15927447;16019190;16179589;16230378;16249442;16324151;16344560;16532036;16563235;16754784;16987004;17200123;17237347;17369289;17472580;17481637;17501721;17553579;17585072;17717289;17940286;17983808;18473264;18508317;18539955;18573911;18593227;18783311;18845355;18849343;19036873;19057021;19061439;19276355;19280689;19337723;19375500;19388821;19409979;19415232;19540572;19542021;19574552;19657056;19671250;19681754;19701206;19779036;19834108;19843513;19913121;19941336;19995913;20031578;20039838;20056178;20163138;20177149;20346360;20360249;20375612;20379614;20396861;20403426;20407038;20427574;20457132;20457808;20523116;20531308;20628086;20708598;20715105;20925598;21075166;21131394;21273445;21391892;21399967;21443946;21483469;21513813;21732365;21788590;21841825;21901141;21907277;21915726;21935366;21965295;22038300;22095986;22108207;22181007;22277655;22303451;22326263;22456182;22496405;22572850;22659429;22713363;22728268;22791246;22937798;22946340;23144758;23251661;23385065;23393389;23476056;23514110;23550626;23555559;23612968;23767990;23824729;23840483;23917044;23958997;23977848;24027357;24048704;24123012;24205282;24216508;24224404;24287775;24392026;24457954;24491913;24511132;24560583;24714748;24831009;24947524;8889548;9882350 50507 B3KQ17;B7Z523;B7Z529;E9PI95;E9PPP2;E9PR43;Q9NPH5 AB041035;ABBA01011518;ABBA01011519;ABBA01011520;ABBA01011521;ABBA01011522;AF254621;AF261943;AJ704725;AJ704726;AJ704727;AJ704728;AJ704729;AK057189;AK291830;AK298323;AK298328;AK298357;AK298376;AK311381;AK311389;AMYH02025268;AMYH02025269;AMYH02025270;AP001815;AP002404;AP003400;AW207163;AY288918;BC040105;BC051371;BP376400;BU730205;CH471185;DA970477;KF455439;KF455440;NM_001143836;NM_001143837;NM_001291926;NM_001291927;NM_001291929;NM_001300995;NM_016931;NR_026571;NR_120406;XM_006718847;XM_006718848;XM_006718849;XM_006718850;XM_006718851;XM_006718852;XM_006718853;XR_428978;XR_428979 AAF68973;AAF87572;AAH40105;AAH51371;AAP41109;ADZ15621;BAA95695;BAF84519;BAG51879;BAH12756;BAH12759;BAH12765;BAH12771;CAG28807;CAG28808;CAG28809;CAG28810;CAG28811;EAW59353;EAW59354;EAW59355;NP_001137308;NP_001137309;NP_001278855;NP_001278856;NP_001278858;NP_001287924;NP_058627;Q9NPH5;XP_006718910;XP_006718911;XP_006718912;XP_006718913;XP_006718914;XP_006718915;XP_006718916 Hs.371036 1339339;1684966;1738117;2108319;5020948;7185407 D11S1326;D11S3741;G35510;NOX4_8033;RH92457 KOX;KOX-1 OTTHUMP00000235654;OTTHUMP00000235655;OTTHUMP00000235656;OTTHUMP00000235657;OTTHUMP00000235658;OTTHUMP00000235659;OTTHUMP00000235660;OTTHUMP00000235661;RENOX;kidney oxidase-1;kidney superoxide-producing NADPH oxidase;renal NAD(P)H-oxidase APPROVED protein-coding ENSG00000086991 HGNC:7891 09243 605261 REVIEWED 737367 NOTCH1 notch 1 This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 109903340 109955631 - 139388896 139440238 - 136494444 136545786 - 1358543;1580863;724389;1334450;1580758;1580761;1580759;1580760;2302204;2299153;1334443;2325328;2325330;2325324;2306423;2325310;2325323;2325288;6480464;6484113;6907045;7240710;8554872;8699517 11078798;11900468;12853432;15057910;15058751;15247148;15472075;15887117;16025100;16707600;16738328;17297654;17761886;18942116;19028876;20056840;20484026 10077672;10079256;10082551;10206645;10221902;10637481;10669757;10713164;10747963;10837024;10882063;10935626;10940313;11006133;11101851;11112321;11226752;11390662;11404076;11418662;11425854;11511084;11518718;11564735;11585921;11604490;11604511;11700865;11739188;11777909;11827460;11836628;11848684;11940670;11964309;11978185;11997524;12048239;12050162;12065598;12123574;12145413;12208848;12357247;12370315;12370358;12374741;12477932;12482957;12486116;12496471;12509463;12527910;12532332;12644465;12682059;12697902;12768030;12781689;12795601;12829602;12913000;12960155;14567914;14583609;14602722;14638857;14645224;14670925;14678992;14726396;14756819;14762442;14996707;15044485;15146197;15213460;15240571;15280477;15448134;15485896;15492044;15492845;15546612;15563463;15563588;15576031;15650752;15756589;15774577;15781650;15817159;15824732;15904468;15976178;15987768;16011479;16079893;16096376;16136053;16160079;16169070;16179393;16239965;16287852;16298817;16317090;16319921;16322473;16344560;16365048;16378632;16434391;16449526;16501043;16507111;16510869;16530044;16536739;16608439;16618808;16622004;16651424;16688224;16713569;16729972;16785210;16822655;16871543;16880534;16887975;16951331;16990763;17008890;17028268;17046738;17090547;17107915;17114293;17186020;17252014;17284587;17301032;17309564;17316355;17317671;17318174;17344417;17353266;17368826;17392684;17404512;17425682;17434929;17497677;17513037;17526737;17560996;17573339;17575125;17604336;17636029;17646408;17646409;1764995;17652726;17662764;17664272;17671232;17716607;17804701;17822320;17849174;17851046;17873882;17874453;17901244;17920003;17922104;17927876;17948123;17967789;17980397;17984306;17991315;18055449;18056171;18069660;18079963;18084619;18155729;18184405;18192230;18192969;18219106;18239137;18292500;18292942;18296446;18296609;18311147;1831692;18320325;18347015;18354251;18359760;18411416;18427106;18440314;18449208;18456406;18469855;18490439;18497996;18549623;18552977;18559519;18560356;18570928;18593473;18593716;18593923;18593928;18593982;18604200;18625637;18628966;18633435;18660822;18663143;18663146;18664540;18703315;18758479;18758480;18777195;18844067;18924608;18984862;19000719;19008176;19023031;19025652;19047145;19057901;19074836;19091404;19109228;19118200;19122673;19147749;19151708;19151773;19160126;19167678;19209236;19228774;19234458;19239437;19245433;19247952;19339697;19340001;19349467;19351817;19376776;19396152;19404845;19407245;19453261;19479935;19491270;19503073;19549918;19550121;19590514;19603167;19604236;19631984;19635999;19680556;19682396;19686049;19695258;19700410;19701457;19704010;19717984;19724860;19724883;19725072;19728763;19751190;19771395;19778842;19794083;19799080;19800882;19808903;19812212;19838210;19847202;19850743;19901516;19914349;19923082;19953094;19956862;20008221;20012562;20036815;20040020;20052673;20058190;20060575;20069356;20106965;20118921;20145124;20146266;20147635;20154720;20193271;20193370;20193454;20194747;20204271;20206691;20208568;20336604;20339081;20346213;20347265;20348013;20348880;20351182;20351309;20368328;20372862;20388374;20418862;20442780;20443831;20444726;20454918;20459529;20479883;20490451;20491628;20515335;20517681;20538790;20551051;20554499;20573067;20578140;20683149;20720151;20730882;20736329;20740684;20800871;20801121;20812035;20813007;20817637;20819128;20819778;20823234;20827750;20861909;20861920;20930168;20944675;20950370;20951801;20962575;20965628;20978353;21042738;21052088;21056041;21078624;21119685;21124806;21124883;21139048;21145176;21147854;21165952;21196490;21224848;21238798;21245387;21251836;21277031;21280156;21302811;21308734;21326611;21342503;21362320;21398698;21420785;21457232;21463919;21464222;21466361;21471203;21471519;21480340;21481777;21498615;21516124;21518768;21556011;21558417;21602795;21622856;21625236;21629222;21631271;21632454;21643850;21665937;21667253;21670202;21673954;21679465;21685328;21737748;21743299;21756827;21761283;21768114;21771876;21775206;21778948;21785827;21798893;21798897;21807868;21810559;21818118;21820430;21835957;21841793;21857154;21868761;21869831;21876634;21880637;21881870;21892607;21892768;21906983;21909072;21938432;21939555;21963094;21979940;21984373;21989054;21993452;21993533;21993686;22004682;22006338;22020917;22022427;22027644;22030773;22038626;22052196;22065781;22066479;22075160;22075757;22077063;22080880;22084425;22093097;22100894;22101766;22110751;22116551;22118425;22123293;22128911;22143792;22150311;22171922;22173954;22182918;22194996;22196886;22197545;22199353;22207691;22210878;22218807;22225590;22249266;22271085;22275240;22279105;22311010;22325781;22330335;22348144;22348356;22349824;22357466;22363487;22378079;22388891;22393458;22424712;22438124;22463491;22479394;22490851;22506064;22510873;22526456;22535768;22546285;22571487;22581828;22585622;22619094;22665268;22673746;22684560;22684561;22695916;22705236;22718117;22768113;22778262;22780927;22781569;22781716;22809957;22814294;22833359;22846929;22863622;22877736;22902365;22914328;22915591;22922832;22929735;22940701;2295459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4851 P46531;Q9NXX4 AB209873;ABBA01022709;ABBA01022710;ABBA01022711;ABBA01022712;AF308602;AK000012;AL354671;AL592301;AMYH02021902;BC013208;BC039147;BC046127;BC049843;BC063597;CH471090;CN431067;CR457221;DA324222;HI574318;M73980;NG_007458;NM_017617 AAA60614;AAG33848;BAA90883;BAD93110;CAG33502;CBX47648;EAW88241;NP_060087;P46531 Hs.495473 1680154;1791722;1792290;1794936;1796412;2162429;5022411 D19S235E;NOTCH1_950;PMC122602P2;PMC140667P1;PMC85812P1;RH80945;STS-M73980 AOS5;AOVD1;TAN1;hN1 Notch homolog 1, translocation-associated;OTTHUMP00000022594;neurogenic locus notch homolog protein 1;notch gene homolog 1, (drosophila);translocation-associated notch protein TAN-1 APPROVED protein-coding ENSG00000148400 HGNC:7881 01827 109730;190198;616028 REVIEWED 1354170 NPEPPS aminopeptidase puromycin sensitive This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. [provided by RefSeq, Jul 2008] 17 17 17 q21 42075154 42153320 + 45600316 45700642 + 47531078 47623276 + 1580863;6480464;8554872 10037494;10329370;10582526;11435692;12477932;14702039;14706550;15489334;17110338;17353931;18781797;19056867;19494703;19615732;20377816;20473970;20562859;20829225;21081666;21139048;21145461;21319273;21320871;21875946;21890473;21906983;21963094;22268729;22586326;22863883;22939629;22944692;22990118;23125841;23349634;23455922;23862649;24234648;24816145;25027693;3171591;7592939;8082751;8889548;9048733 9520 E9PI82;E9PJ74;E9PJF9;E9PJY4;E9PLK3;E9PP11;E9PPD4;E9PPZ2;E9PRQ5;H0YCQ5;H0YDG0;P55786 AA864462;ABBA01041132;ABBA01041133;ABBA01041134;ABBA01041135;ABBA01041136;ABBA01041137;AC025682;AC183084;AC244084;AF252387;AJ132583;AK095877;AK096491;AK096709;AK293450;AK293995;AK296887;AK297107;AK303037;AK311414;BC065294;BM723238;CH471109;DB476543;NM_006310;XM_006722187 AAF70086;AAH65294;BAG53154;BAG53355;BAH11510;BAH11645;BAH12449;BAH12498;BAH13885;CAA10709;EAW94811;EAW94812;EAW94813;NP_006301;P55786;XP_006722250 Hs.443837 1687461;1729079;1739565;1748801;2115814;2166332;2181370;5016478;5020274;5092730;5100458;5126233 A005V04;D17S1720;D17S626;G32293;GDB:434012;L18441;Psa;RH46221;RH48280;RH80425;SGC44582;SHGC-110413 AAP-S;MP100;PSA OTTHUMP00000229852;OTTHUMP00000229855;cytosol alanyl aminopeptidase;metalloproteinase MP100;puromycin-sensitive aminopeptidase APPROVED protein-coding ENSG00000141279 HGNC:7900 07366 606793 REVIEWED 1318462 NPC1 Niemann-Pick disease, type C1 This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] 18 18 18 q11.2 17927454 17982730 - 21086148 21166581 - 23506184 23586617 - 1601483;1580863;6480464;7240710;8554872;8699517 11567215 10425213;10480349;10521290;10521297;10821832;11333381;11349231;11479732;11754101;11907140;12125814;12398991;12401890;12408188;12477932;12554680;12719428;15069562;15314240;15342556;15347664;15459971;15489334;15596783;15632139;15681833;15774455;15908696;16054367;16141411;16174794;16644737;16757520;16778374;17008555;17020879;17160616;17183645;17662536;17897319;17989072;18216017;18272927;18272928;18591242;18636124;18772377;18774957;18834923;18948618;19007772;19029290;19056867;19074461;19151714;19206179;19252935;19474101;19563754;19583955;19746448;19815536;19851340;19878569;19913121;19946888;19965586;20007703;20301334;20301473;20489167;20497909;20521171;20571217;20571754;20607864;20628086;20712903;20843981;20955564;21139048;21220512;21866101;21866103;21890473;21903422;21906983;21963094;21987572;22179027;22212234;22268729;22273177;22326530;22395071;22437840;22495346;22607065;22939629;22962690;23010472;23142039;23382922;23521797;23567849;23733943;24001314;24064683;24296264;24639526;24790103;24866237;8446622;9211849;9211850;9245994;9458174;9559270;9634529;9866822;9927649;9990080 4864 K7EIH7;K7ENZ0;K7EQ23;K7ERM4;K7ERW2;O15118 AB209048;ABBA01022632;AC010853;AC026634;AF002020;AF157379;AF338230;AI242474;AK293779;AK295715;AK308491;AMYH02034417;AMYH02034418;BC063302;BP217319;CA438246;CH471088;DR159421;NG_012795;NM_000271;XM_005258277;XM_005258278;XM_005258279;XM_006722479 AAB63982;AAD48006;AAH63302;AAK25791;BAD92285;BAG57194;BAG58559;EAX01158;NP_000262;O15118;XP_005258334;XP_005258335;XP_005258336;XP_006722542 Hs.464779;Hs.715623 2140545;2171440;2183249;5018027 D18S1243;NPC1_s22;RH11988;WI-14881 FLJ98532;NPC Niemann-Pick C1 protein;OTTHUMP00000162699 APPROVED protein-coding ENSG00000141458 HGNC:7897 09622 257220;607623 REVIEWED 1351737 NPFFR1 neuropeptide FF receptor 1 INVOLVED IN neuropeptide signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH ammonium chloride (ortholog) 10 10 10 q21-q22 65294771 65323520 - 72014713 72043450 - 70254957 70283694 - 633416;1580863;6480464 11024015 11025660;12477932;16385451;16754659;20027225;20379614;22064075;22691551;23007406 64106 Q9GZQ6 AB040104;AB065729;ABBA01019622;AF268898;AF330055;AL355138;AMYH02023285;AMYH02023286;BC131580;CH471083;EU432128;NM_022146 AAG41397;AAI31581;AAK94199;ABY87927;BAB17677;BAC05950;EAW54387;NP_071429;Q9GZQ6 Hs.302026 1727113 G62960 FLJ10751;GPR147;NPFF1;NPFF1R1;OT7T022 G protein-coupled receptor 147;G-protein coupled receptor 147;OTTHUMP00000019749;RFamide-related peptide receptor OT7T022;neuropeptide FF 1 protein-coding HGNC:17425 12120 607448 VALIDATED 1352810 NPCDR1 nasopharyngeal carcinoma, down-regulated 1 246734 Q9BY65 AF134979 HGNC:13392 1344630 NPHL1 nephrolithiasis 1 (X-linked) ASSOCIATED WITH Dent disease 1 (inferred); Familial Hypophosphatemic Rickets (inferred); Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis (inferred) 7240710 8099916 4865 HGNC:7903 300009;300554;308990;310468 1353727 NPDC1 neural proliferation, differentiation and control, 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; cadmium atom; copper(2+) sulfate 9 9 9 q34.3 110447250 110454093 - 139933909 139941147 - 137039457 137046224 - 1580863;6480464;8554872 10970871;11042687;11245976;12477932;14702039;15229225;15489334;15563841;16189514;17577209;21139048;21906983;21963094;21987572;21988832;7878019;8125298;9181131 56654 Q5SPY9;Q9NQX5 ABBA01022738;AF272357;AF283247;AF285836;AF327349;AK054950;AK074793;AK225091;AL050221;AL807752;AMYH02021920;AMYH02021921;BC004217;CH471090;NM_015392 AAF76225;AAF82603;AAH04217;AAK27328;AAL56010;BAC11212;CAB43321;EAW88335;NP_056207;Q9NQX5 Hs.719906 2142290 WI-15356 CAB;CAB-;CAB-1;CAB1;DKFZp586J0523;NPDC-1 OTTHUMP00000022636;OTTHUMP00000022637;neural proliferation differentiation and control protein 1 protein-coding ENSG00000107281 HGNC:7899 12048 605798 VALIDATED 735618 NOS3 nitric oxide synthase 3 (endothelial cell) Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 7 7 7 q36 145245139 145269020 + 150688144 150711687 + 150991056 151014944 + 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4846 A0S0A6;E7ESA7;H7C4V4;P29474 AACC02000108;ABBA01035167;ABBA01035168;AC010973;AF032908;AF387340;AF400594;AF415200;AF519768;AI082109;AK223636;AK225827;AK292928;AK300390;AK302686;AK315213;AMYH02017066;AMYH02017067;BC063294;BC069465;BU731828;CB987955;CH471173;D26607;DA859819;DQ256129;DQ256130;DQ256131;EU332855;JB831656;JX853577;JX853578;JX853579;L10709;L23210;L26914;M93718;M95296;NG_011992;NM_000603;NM_001160109;NM_001160110;NM_001160111;S80791;X76303;XM_006716000;XM_006716001;XM_006716002 AAA36364;AAA36365;AAA36372;AAA36373;AAA36374;AAB87083;AAD14336;AAH63294;AAH69465;AAK71989;AAK83389;AAL07497;AAM74944;ABB79838;ABB79839;ABB79840;ABY87544;ADR82746;AFX88320;AFX88321;AFX88322;BAA05652;BAD97356;BAF85617;BAG37648;BAH13275;BAH13779;CAA53950;CDI44688;EAL24494;EAW54069;NP_000594;NP_001153581;NP_001153582;NP_001153583;P29474;XP_006716063;XP_006716064;XP_006716065 Hs.647092 1336097;1682487;1743813;1778577;2136011;2140945;2148011;2172879;2177268;5491258;7185486;7185527;7187021 D7S1880;D7S2866;D7S636;D7S759;GDB:374071;GDB:4585682;MARC_6739-6740:982537599:1;NOS3;RH99113;STS-U24214 EC-NOS;cNOS;eNOS ECNOS;NOS type III;NOSIII;OTTHUMP00000212826;OTTHUMP00000213183;OTTHUMP00000213184;OTTHUMP00000213185;constitutive NOS;endothelial NOS;nitric oxide synthase 3 [endothelial cell];nitric oxide synthase 3 transcript variant eNOS-delta20;nitric oxide synthase 3 transcript variant eNOS-delta20-21;nitric oxide synthase 3 transcript variant eNOS-delta21;nitric oxide synthase 3, endothelial cell;nitric oxide synthase, endothelial 2289327;2289330 BW383_H;BW384_H APPROVED protein-coding ENSG00000164867 HGNC:7876 01224 104300;145500;163729;189800;601367 REVIEWED 2300994 NPHP3-AS1 NPHP3 antisense RNA 1 3 3 3 q22.1 130866673 131018542 + 132441186 132593050 + 132722342 132874206 + 12477932;21139048;21906983 348808 ABBA01059177;ABBA01059178;AC018916;AC055732;AC079942;AMYH02007689;AMYH02007690;AMYH02007691;AMYH02007692;BC036463;BC039375;BC048124;HG496066;NR_002811 Hs.586111 1707022;1714847;1766897;2124597 D3S4549;RH120418;SHGC-152347;SHGC-81018 NCRNA00119 APPROVED ncrna ENSG00000248724 HGNC:24129 PREDICTED 733261 NPFFR2 neuropeptide FF receptor 2 This gene encodes a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 4 4 4 q21 70253879 70369821 + 72897521 73013918 + 72031804 72148201 + 6480464;8554872 10079187;10837915;10851242;11024015;12477932;12606605;12609745;15127947;15146197;15608144;16336216;16488513;16754659;17157836;17503329;18029348;18565622;19944730;20600636;21818152;22375000 10886 A0PJM9;Q9Y5X5 ABBA01022977;ABBA01022978;ABBA01022979;ABBA01022980;AC106051;AC106898;AF119815;AF236083;AF257210;AF268899;AF330053;AJ311393;AK290937;AK308069;AMYH02009447;BC101636;BC113713;CH471057;CN285250;NM_001144756;NM_004885;NM_053036 AAD22047;AAF87078;AAG41398;AAI01637;AAI13714;AAK58513;AAK94197;BAF83626;CAC85427;EAX05647;EAX05648;EAX05649;EAX05650;NP_001138228;NP_004876;NP_444264;Q9Y5X5 Hs.99231 1659255;1775313;1777205;1797652;2124569;5037552 D4S3201;D8S2279;G33309;GPR74_2132;SHGC-50585;SHGC-51038 GPR74;HLWAR77;NPFF2;NPGPR G protein-coupled receptor 74;G-protein coupled receptor 74;G-protein coupled receptor HLWAR77;OTTHUMP00000160367;OTTHUMP00000160368;OTTHUMP00000160369;neuropeptide FF 2;neuropeptide G-protein coupled receptor APPROVED protein-coding ENSG00000056291 HGNC:4525 16244 607449 REVIEWED 1351118 NPHP4 nephronophthisis 4 This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] 1 1 1 p36 5037702 5167377 - 5922870 6052618 - 5862810 5992558 - 1580863;6480464;7240710;8554872;8699517 11920287;12006559;12205563;12244321;12477932;14702039;14750102;15661758;15776426;16131712;16339905;17558407;17672918;17855640;17954299;18076122;19118152;19260139;19305408;19755384;20301743;20379614;20844548;21068128;21357692;21422230;21555462;21565611;21906983;22505724;22550138;22654112;22863007;23006423;8889548;9734811 261734 B3KW36;D6RA06;H0YA08;O75161 AB014573;ABBA01035430;ABBA01035431;ABBA01035432;ABBA01035433;AF537130;AK124074;AK127333;AK128182;AK314326;AL035406;AL117405;AL356261;AL356693;AMYH02000163;AMYH02000164;AMYH02000165;AMYH02000166;AY118228;BC015402;BC028627;BC040520;BC050076;BU621804;BU738621;CH471130;KF459609;NG_011724;NM_001291593;NM_001291594;NM_015102;NR_111987;R40620;XM_006710563;XM_006710564;XM_006710565;XM_006710566;XM_006710567;XM_006710568;XM_006710569;XM_006710570;XR_244787;XR_426599;XR_426600;XR_426601 AAH40520;AAM78558;AAN06814;BAA31648;BAC86935;BAG53998;CAB55906;EAW71507;EAW71508;EAW71509;EAW71510;EAW71511;NP_001278522;NP_001278523;NP_055917;O75161;XP_006710626;XP_006710627;XP_006710628;XP_006710629;XP_006710630;XP_006710631;XP_006710632;XP_006710633 Hs.462348 1341964;1673930;1724069;1732914;1771585;1778772 D1S1323;D1S1824E;D1S253;D1S3371;DXS7419;RH119046 FLJ46306;KIAA0673;POC10;SLSN4 OTTHUMP00000000745;OTTHUMP00000221425;POC10 centriolar protein homolog;nephrocystin 4;nephrocystin-4;nephroretinin APPROVED protein-coding ENSG00000131697 HGNC:19104 06238 606966;606996;607215 REVIEWED 1322762 NPEPL1 aminopeptidase-like 1 ENCODES a protein that exhibits aminopeptidase activity (inferred); manganese ion binding (inferred); metalloexopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN nucleus; INTERACTS WITH 2-methylcholine; elemental selenium; ethyl methanesulfonate 20 20 20 q13.32 54008342 54031376 + 57264187 57290900 + 58689131 58715844 + 1580863;6480464 11780052;11853319;12477932;14702039;15342556;15489334;22082156;8125298 79716 H0YEP3;Q8NDH3 AB075854;ABBA01005970;ABBA01005971;ABBA01005972;ABBA01005973;AK021645;AK096873;AK124479;AK126390;AK223094;AK297667;AK307771;AK315684;AL139349;AL833971;AMYH02037369;AMYH02037370;AMYH02037371;BC020507;BC068074;BM544905;BP232534;CH471077;NM_001204872;NM_001204873;NM_024663 AAH20507;ABM82551;ABM85742;ABM87826;BAB13861;BAB85560;BAD96814;BAG38049;BAG60029;CAD38816;EAW75474;EAW75475;EAW75476;EAW75477;EAW75478;EAW75479;EAW75480;NP_001191801;NP_001191802;NP_078939;Q8NDH3 Hs.654868 1689093;1706880 RH91972;SHGC-80926 FLJ11583;FLJ42065;bA261P9.2 OTTHUMP00000206100;OTTHUMP00000235827;OTTHUMP00000235828;probable aminopeptidase NPEPL1 protein-coding ENSG00000215440 HGNC:16244 07496 VALIDATED 736986 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 q25.2 152627305 152652723 - 179519674 179545086 - 179550539 179575951 - 1580863;6480464;7240710;8554872;8699517 10742096;10802674;11241850;11562357;11729243;11733557;11786407;11805166;11805168;11854170;11908478;12089392;12368218;12424224;12464671;12477932;12617336;12649741;12687458;12707396;12961083;14570703;14675423;14871423;15167446;15253708;15322893;15327385;15489334;15496146;15659563;15769810;15780077;15817495;15942677;15954915;16439601;16481888;16572591;16898497;16968734;17109732;17175312;17211152;17216259;17218332;17371932;17393177;17635752;17675666;17699384;17899208;17934764;17942957;17968527;18000687;18058136;18208440;18216321;18334793;18499321;18519826;18543005;18726620;18823551;19056867;19099831;19145239;19371226;19395786;19406966;19520069;19536175;19562271;19674119;19913121;20001346;20025681;20442690;20457601;20507940;20628086;20947785;21125408;21171529;21478284;21499232;21655212;22080622;22120861;22228437;22321327;22565185;22578956;23013956;23242530;23436459;23645318;23648087;23800802;23913389;23982418;24072147;24072153;24227627;24337247;24413855;24509478;24596097;24969201;8589695 7827 Q9NP85 ABBA01027812;AJ279246;AJ279254;AL160286;AMYH02002235;BC029141;BI831348;BX095913;CH471067;NG_007535;NM_001297575;NM_014625;XM_005245483;XM_005245484;XM_006711529 AAH29141;CAB83216;CAB83272;EAW91049;EAW91050;NP_001284504;NP_055440;Q9NP85;XP_005245540;XP_005245541;XP_006711592 Hs.412710;Hs.658505 1682958;1792454;1792456;1792458;1792460;1792462;1847089;2219196 D1S1640;NPHS2__6070;PMC151634P1;PMC151634P2;PMC151634P3;PMC151634P4;PMC151634P5;RH92018 PDCN;SRN1 OTTHUMP00000033186;OTTHUMP00000033187;podocin APPROVED protein-coding ENSG00000116218 HGNC:13394 05303 600995;604766 REVIEWED 732787 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] 19 19 19 q13.1 33029746 33057068 - 36316274 36342895 - 35825372 35851993 - 737766;737765;1580863;6480464;7240710;8554872;8699517 11317351;12039968 10393930;10550324;10577936;10652016;10997929;11241530;11562357;11692176;11692461;11733557;11854170;11961028;12324903;12368218;12407641;12436341;12495287;12631336;12660326;12663475;12668668;12846735;12853730;12865409;12920248;12961083;14633607;14736962;14747939;15086927;15149332;15167446;15174051;15331416;15339792;15504938;15545998;15634346;15659563;15780077;15942677;16010520;16288986;16525419;16543952;16644649;16968734;16968782;17211152;17255128;17290294;17301560;17371932;17395751;17413422;17464107;17923684;18212058;18258597;18449463;18480178;18503012;18562307;18614772;19056867;19077682;19179337;19321760;19406966;19443487;19470472;19520069;19528353;19587356;19671286;19746264;19812541;19816048;19833886;19913121;20138859;20172850;20237496;20419132;20424473;20457601;20507940;20576809;20628086;20650908;21125408;21321125;21478284;21803771;21980157;22009864;22176966;22194892;22565185;22584503;22615747;22653594;22718751;22747997;23188823;23824190;24089175;24219158;24303155;24337247;24371179;24413855;24498843;24529330;24848282;9660941;9915943 4868 O60500 ABBA01018770;ABBA01018771;AC002133;AF035835;AF126957;AF190637;AK310731;AMYH02035992;BX103667;EU642886;EU642887;KC877728;NG_013356;NM_004646;U95090;XM_005258961 AAB80768;AAC39687;AAF36451;AAG17141;AAI56196;AAI56936;ACH99862;NP_004637;O60500;XP_005259018 Hs.122186 2219194;5022578 D1S1423;NPHS1__6069 CNF;NPHN nephrin;renal glomerulus-specific cell adhesion receptor APPROVED protein-coding ENSG00000161270 HGNC:7908 04094 256300;602716 REVIEWED 1342817 NPHP3 nephronophthisis 3 (adolescent) This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011] 3 3 3 q22.1 130824943 130866763 - 132399453 132441303 - 132680609 132722459 - 1580863;6480464;7240710;8554872;8699517 10631142;11134256;11752023;12056414;12477932;12872122;14702039;15381417;15489334;16344560;17855640;18029348;18371931;18854154;19177160;19303681;20007846;20301743;21068128;21102462;22863007;23275563;23686967;23793029 27031 F2Z3A8;H0YAM4;Q7Z494 AB056657;ABBA01059178;ABBA01059179;ABBA01059180;AC055732;AI200954;AK055253;AK055893;AK092910;AK093012;AK094015;AL832863;AL832877;AMYH02007689;AY257864;AY257865;AY257866;BC063277;BC068082;BC131729;CH471052;CR749498;DB114822;EB387619;KF457685;NG_008130;NM_153240 AAH68082;AAI72279;AAP83423;AAP83424;AAP83425;BAB70891;BAB71038;BAC04018;BAC04268;CAH18321;CAI46200;CAI46202;EAW79187;NP_694972;Q7Z494 Hs.511991 1729718;5015861;5037552;7185938;7187851 D10S16;D3S1587;D3S621;D8S2279 CFAP31;DKFZp667K242;DKFZp781K1312;FLJ30691;FLJ36696;KIAA2000;MGC78666;MKS7;NPH3;RHPD;RHPD1;SLSN3 Meckel syndrome, type 7;OTTHUMP00000216295;cilia and flagella associated protein 31;nephrocystin 3;nephrocystin-3 APPROVED protein-coding ENSG00000113971 HGNC:7907 06417 208540;267010;604387;608002 REVIEWED 7386296 NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring NPHP3 (nephronophthisis 3, adolescent) and ACAD11 (acyl-CoA dehydrogenase family, member 11) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 3 3 132276982 132441303 - 132558138 132722459 - 6480464;8554872 12056414;12872122;20967262 100532724 AB082531;ABBA01059178;ABBA01059179;ABBA01059180;ABBA01059181;ABBA01059182;ABBA01059183;ABBA01059184;ABBA01059185;AC020632;AC055732;AMYH02007688;AMYH02007689;AY257867;KF457683;KF457684;KF457685;NR_037804 AAP83426;BAC02709 Hs.511991 2180746 SHGC-77360 ncrna HGNC:48351 VALIDATED 1343791 NPIPA1 nuclear pore complex interacting protein family, member A1 INVOLVED IN mRNA transport (inferred); protein transport (inferred); FOUND IN nuclear pore (inferred); INTERACTS WITH all-trans-retinoic acid; cisplatin; copper(2+) sulfate 16 16 p13.11 15027316 15045931 + 14933184 14952074 + 6480464 10493829;1158635;11586358;12477932;18055785;19460752;22082156 9284 F8WB45;H0YH09;Q9UND3 AC002045;AC138932;AC245049;AF132984;AK160377;AK294177;BE253379;CH471092;KF175165;KF175166;KF175167;KF175169;KF175208;KF175209;KF175225;NM_006985;XM_005255694;XM_005255695;XM_006720979;XM_006720980 AAC05437;AAC05438;AAD34394;AAI46423;AHY28872;AHY28873;AHY28874;AHY28876;AHY28918;BAD18720;BAG57496;EAW83295;EAW83296;NP_008916;Q9UND3;XP_005255751;XP_005255752;XP_006721042;XP_006721043 Hs.676266 5023541;5024282;5117220;5124491 Cda0uf06;GDB:451833;PMC356914P2;RH70738 FLJ42525;FLJ44848;NPIP NPIPA;OTTHUMP00000115824;morpheus;nuclear pore complex-interacting protein;nuclear pore complex-interacting protein A type;nuclear pore complex-interacting protein family member A1 APPROVED protein-coding ENSG00000183426 HGNC:7909 12101 606406 VALIDATED 7246247 NPIPA7 nuclear pore complex interacting protein family, member A7 16 16 16473102 16487815 + 16379245 16393972 + 10737800 101059938 E9PJI5;H0Y2X3;P0DM63;Q9NRE7 AC136619;AC138969;AC244489;BI046418;BI832721;NM_001282507;XM_005255735;XM_005255737;XM_006725190;XM_006725191 NP_001269436;XP_005255792;XP_005255794;XP_006725253;XP_006725254 Hs.634612;Hs.636569 protein-coding ENSG00000214967 HGNC:41982 VALIDATED 736374 NPFF neuropeptide FF-amide peptide precursor FMFRamide-related protein precursor plays a role in the regulation of heart rate and blood pressure and the modulation of morphine-induced antinociception. FMRFAL encodes a preproprotein which is cleaved to form two active peptides with similar function. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 53550832 53551780 - 53900472 53901422 - 53506688 53507638 - 1580863;61673;6480464 10220558 10851242;11024015;11325787;11587714;12149260;12477932;12609745;16336216;16754659;17224450;17854890;18577758;21120930;23333304;7784266;8804117;9224703;9786165 8620 O15130 ABBA01008343;AC023509;AF005271;AF503515;AMYH02026525;BC035758;BC104234;BC104235;CH471054;NM_003717;XM_005269206 AAB64288;AAI04235;AAI04236;EAW96721;EAW96722;NP_003708;O15130;XP_005269263 Hs.733076 1682852;5493617 RH39878;UniSTS:489753 FMRFAL FMRFamide-related peptides;OTTHUMP00000242318;pro-FMRFamide-related neuropeptide FF APPROVED protein-coding ENSG00000139574 HGNC:7901 06869 604643 REVIEWED 1317734 NPHP1 nephronophthisis 1 (juvenile) This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q13 104844788 104926515 + 110880913 110962639 - 110123336 110205062 - 1580863;6480464;7240710;7246900;7246902;7246904;7246903;8554872;8699517 16762963;17409309;21258817;22982934 10665934;10712196;10739664;10839884;11493697;12006559;12205563;12244321;12477932;12872122;12872123;15138899;15489334;15661758;16308564;16374509;16713569;16724659;16782989;16885411;16900087;16964398;17207965;17513324;17855640;18054307;18477472;18512082;18633336;19718658;20301500;20301743;20424473;20856870;20981449;21068128;21309750;21357692;21906983;22523277;22701722;22743096;22745667;22863007;23683649;24746959;7806215;8125298;8852662;9326933;9361039;9587065;9856524 4867 B4DQY0;C9J082;C9JNM7;H7C014;H7C2K4;O15259 ABBA01015964;ABBA01015965;ABBA01015966;AC013268;AC092664;AC140479;AF023674;AI433852;AJ001815;AK225600;AK299011;AK307654;AMYH02004562;BC009789;BC032939;BC062574;BX571745;CH878608;DB454094;NG_008287;NM_000272;NM_001128178;NM_001128179;NM_207181;XM_005263675;XM_005263676;XM_005263677;XM_005263678;XM_005263679;XM_006712551;XM_006712552 AAC51771;AAH62574;ADQ32422;BAG61092;CAA05030;CAE11870;EAW50631;EAW50632;EAW50633;EAW50634;EAW50635;EAW50636;EAW50637;NP_000263;NP_001121650;NP_001121651;NP_997064;O15259;XP_005263732;XP_005263733;XP_005263734;XP_005263735;XP_005263736;XP_006712614;XP_006712615 Hs.280388 1667693;1688941;1744313;5022578 D1S1423;GDB:451658;RH47050;WI-22078 FLJ97602;JBTS4;NPH1;SLSN1 OTTHUMP00000161840;OTTHUMP00000161841;OTTHUMP00000207141;OTTHUMP00000207142;OTTHUMP00000225199;juvenile nephronophthisis 1 protein;nephrocystin 1;nephrocystin-1 APPROVED protein-coding ENSG00000144061 HGNC:7905 02019;09524 256100;266900;607100;609583 REVIEWED 1602024 NPIPB15 nuclear pore complex interacting protein family, member B15 FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; formaldehyde; methyl methanesulfonate 16 16 q23.1 74411790 74426013 + 74377290 74392115 + 6480464 10493829 440348 A6NHN6 AC002544;AC009053;AMYH02032378;XM_005256273;XM_006721357;XM_006726636 A6NHN6;AAC27428;AAI60029;XP_005256330;XP_006721420;XP_006726699 5110981;5113740;5124491 Cda0uf06;RH42003;SHGC-32146 A-761H5.4;NPIPL2 OTTHUMP00000211015;OTTHUMP00000222828;nuclear pore complex interacting protein-like 2;nuclear pore complex-interacting protein family member B15;nuclear pore complex-interacting protein-like 2 APPROVED protein-coding HGNC:34409 18636 MODEL 7246856 NPIPB1P nuclear pore complex interacting protein family, member B1, pseudogene 18 18 p11.21 11619577 11634052 - 11619578 11634053 - 12477932;14702039;15489334;15616553;16177791;9039502 729602 ABBA01073995;ABBA01073996;AMYH02034314;AP001120;NG_023368 pseudo HGNC:37452 INFERRED 7246584 NPIPA2 nuclear pore complex interacting protein family, member A2 INVOLVED IN mRNA transport (inferred); protein transport (inferred); FOUND IN nuclear pore (inferred) 16 16 p13.11 14841404 14859305 + 14747550 14765448 + 18055785 642799 E9PIF3;O15103;Q9UND3 AC136443;KF175213;NM_001277324;XM_005255486;XM_005255487;XM_005255488;XM_005255489;XM_005255490;XM_005255491;XM_005255492;XM_006720916;XM_006720917 E9PIF3;NP_001264253;XP_005255543;XP_005255544;XP_005255545;XP_005255546;XP_005255547;XP_005255548;XP_005255549;XP_006720979;XP_006720980 NPIP nuclear pore complex-interacting protein family member A2;nuclear pore complex-interacting protein-like 1-like protein-coding ENSG00000254852 HGNC:41979 VALIDATED 7246600 NPIPA8 nuclear pore complex interacting protein family, member A8 16 16 18411790 18426519 - 18317919 18334712 - 11586358 101059953 E9PJI5;H0YFN8;P0DM63;Q9NRE7 AC126755;AI679407;BE049529;BQ101079;BY996642;NM_001282511;XM_005255738;XM_006720829;XM_006720830 NP_001269440;P0DM63;XP_005255795;XP_006720892;XP_006720893 Hs.636569;Hs.720303 LCR16a9 morpheus gene family member 9;nuclear pore complex-interacting protein family member A8 protein-coding ENSG00000214940 HGNC:41983 VALIDATED 7246814 NPIPB6 nuclear pore complex interacting protein family, member B6 16 16 p11.2 28353833 28374592 - 28342512 28363351 - 12477932 728741 B2RXF8;E9PJ23;E9PS57 AC138894;AC138904;AC145285;AI149699;AMYH02031778;BC144439;BC157836;BQ447892;KF175222;NM_001282524;XM_005255741;XM_005255742;XM_005255743;XM_006721079;XM_006721080;XM_006721081;XM_006721082;XM_006721083 AAI57837;AHY28915;E9PJ23;NP_001269453;XP_005255798;XP_005255799;XP_005255800;XP_006721142;XP_006721143;XP_006721144;XP_006721145;XP_006721146 Hs.726467 NPIPB nuclear pore complex-interacting protein B type;nuclear pore complex-interacting protein family member B6 protein-coding ENSG00000198156 HGNC:37454 VALIDATED 7246504 NPIPB11 nuclear pore complex interacting protein family, member B11 FOUND IN integral component of membrane (inferred) 16 16 p11.2 29392624 29421669 - 29381303 29404786 - 15616553 728888 E5RHQ5 AC025279;AC245044;KF175195;KF175204;XM_006721110;XM_006726615 AHY28902;AHY28911;E5RHQ5;XP_006721173;XP_006726678 NPIP Nuclear pore complex-interacting protein family member B11 protein-coding ENSG00000254206 HGNC:37453 MODEL 1604418 NPIPB7 nuclear pore complex interacting protein family, member B7 FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; formaldehyde 16 16 p11.2 28468141 28482617 - 28456820 28471296 - 6480464 10493829;12477932 440350 O75200 AC138894;NG_023370 AAI56859;O75200 A-575C2.4;A-761H5.5;NPIPL1 nuclear pore complex interacting protein-like 1;nuclear pore complex-interacting protein-like 1 APPROVED pseudo HGNC:33832 18637 INFERRED 7246486 NPIPB9 nuclear pore complex interacting protein family, member B9 16 16 28763573 28784171 + 28751944 28772850 + 12477932;15616553 100507607 F8VUA1;F8W1W9 AC145285;AMYH02031809;AMYH02031810;BC171825;NM_001287250;NM_001287251;XM_003118719;XM_005255745;XM_005255746;XM_005255747;XM_006721000;XM_006721001;XM_006721002;XM_006721003;XM_006721004 F8W1W9;NP_001274179;NP_001274180;XP_003118767;XP_005255802;XP_005255803;XP_005255804;XP_006721063;XP_006721064;XP_006721065;XP_006721066;XP_006721067 Hs.710214 Nuclear pore complex-interacting protein family member B9 protein-coding HGNC:41987 VALIDATED 6480970 NPIPP1 nuclear pore complex interacting protein pseudogene 1 INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog); 2-acetamidofluorene (ortholog) 16 16 15198155 15217355 - 15104298 15123498 - 6480464 100874381 AC139256;NG_032198 pseudo HGNC:35407 INFERRED 1348386 NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 1 1 1 q25 155872543 155909737 + 182758584 182799519 + 182789449 182830384 + 1580863;6480464;6907045;8554872 11318611;11737202;12453637;12477932;15489334;16147865;16710414;19057931;21832049 80896 Q9BXD5 ABBA01027761;AF338436;AI249145;AK297017;AK301068;AK313225;AL355999;AL513344;AL525867;AMYH02002275;AY336748;BC034966;BC042003;BC058003;BC125051;CB961482;CH471067;NM_001200050;NM_001200051;NM_001200052;NM_001200056;NM_030769 AAH58003;AAI25052;AAK25795;AAQ82432;BAG36036;BAG59549;BAG62675;EAW91132;EAW91133;EAW91134;EAW91135;NP_001186979;NP_001186980;NP_001186981;NP_001186985;NP_110396;Q9BXD5 Hs.496969;Hs.731792 1693706;1846625;2106547;2164782;2164784;5024543 A006A04;D1S3690;G20642;NPL__6071;SHGC-58621;SHGC-76016 C112;C1orf13;DHDPS1;MGC149582;MGC61869;NAL;NPL1 N-acetylneuraminate lyase;N-acetylneuraminate pyruvate-lyase;N-acetylneuraminic acid aldolase;NALase;OTTHUMP00000033259;OTTHUMP00000033260;dihydrodipicolinate synthase;dihydrodipicolinate synthetase homolog 1;sialate lyase;sialate-pyruvate lyase;sialic acid aldolase;sialic acid lyase APPROVED protein-coding ENSG00000135838 HGNC:16781 14836 611412 REVIEWED 7246282 NPIPB8 nuclear pore complex interacting protein family, member B8 16 16 p11.2 28655835 28670046 + 28637887 28658725 + 15616553 728734 E9PQR5;H0YDQ7;I3L0I5 AC020765;AC145285;AMYH02031796;AMYH02031797;XM_001132754;XM_005255749;XM_005255750;XM_006721111;XM_006721112;XM_006721113;XM_006721114;XM_006721115;XM_006721116;XM_006726616 E9PQR5;XP_001132754;XP_005255806;XP_005255807;XP_006721174;XP_006721175;XP_006721176;XP_006721177;XP_006721178;XP_006721179;XP_006726679 Nuclear pore complex-interacting protein family member B8 protein-coding HGNC:37490 MODEL 735438 NPLOC4 nuclear protein localization 4 homolog (S. cerevisiae) ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN ER-associated ubiquitin-dependent protein catabolic process (ortholog); Golgi organization (ortholog); membrane fusion (ortholog); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN nucleus; endoplasmic reticulum (ortholog); nuclear outer membrane-endoplasmic reticulum membrane network (ortholog); INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2-methylcholine; cobalt dichloride 17 17 17 qter 76168272 76249182 - 79523913 79604138 - 81556887 81637112 - 6480464;6907045 10811609;10819331;11574150;12477932;12644454;12665801;14702039;15371428;15489334;16196087;16234241;16322459;16751776;17331469;17550899;17872946;18586029;18775313;18781797;19322201;19615732;19818707;20414249;20442859;20463881;20639865;20702414;20876349;21139048;21486945;21636303;21890473;21906983;21914798;21963094;21987572;22053931;22337587;22412018;22505724;22797925;22863883;22939629;23000965;23042607;23293021;23333620;23798571;24019527;24160817;24163370;24248593;24250222;24429874;24457600;24654937;24816145;25027693 55666 B4DG89;I3L0W3;I3L281;I3L283;I3L3I1;I3L4S2;I3L4U9;K7EJN1;Q8TAT6 AB040932;ABBA01032154;ABBA01032155;ABBA01032156;AC137896;AC139149;AC139530;AK000664;AK023046;AK023272;AK074322;AK294473;AK311741;AL133629;AL834300;AMYH02034132;AMYH02034133;BC013406;BC025930;CH471099;DC322260;DQ587272;DQ587568;NM_017921 AAH25930;ABM86282;BAA91314;BAA96023;BAB14372;BAB14499;BAG57700;CAD38971;EAW89661;EAW89662;EAW89663;NP_060391;Q8TAT6 Hs.464333 1644662;1680831;1783508;1783598;1847657;2168394;5015861;5016596;5109797;7185938 D10S16;D17S1511E;GDB:631802;RH46882;RH79771;SHGC-148718;SHGC-156246;SHGC-58033;STS-N27028 FLJ20657;FLJ23742;KIAA1499;NPL4 homolog of yeast nuclear protein localization 4;nuclear protein localization protein 4 homolog protein-coding ENSG00000182446 HGNC:18261 06975 606590 VALIDATED 2306329 NPIPB3 nuclear pore complex interacting protein family, member B3 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; all-trans-retinoic acid 16 16 16 p12.2 12195094 12205513 - 21413455 21436658 - 21402134 21425337 - 6480464 11948212;12477932;15489334;15616553;19460752;8889548;9039502 23117 B4DG78;C9IYD2;C9JGN3;C9K082;E9PR77;F5H3W2;F5H4N5;Q92617 AA579987;AB209632;AC008740;AC241640;AK128772;AK294452;AK295170;AK300277;AK303166;AK303500;AK304162;AK308629;AK316459;AY498718;BC036263;BC061522;BC073943;BC094882;BM557638;BM710413;BQ721066;BQ950195;DC342292;KF175175;KF175176;KF175177;KF175178;KF175179;KF175180;KF175181;KF175182;KF175183;KF175184;KF175185;KF175186;KF175187;KF175188;KF175189;KF175190;KF175191;KF175192;KF175193;KF175194;KF175197;KF175198;KF175199;KF175200;KF175201;KF175202;KF175203;KF175215;KF175216;KF175223;KF459689;NM_130464 A8MRT5;AAH36263;AAH61522;AAH73943;AAH94882;AAS48701;AHY28882;AHY28883;AHY28884;AHY28885;AHY28886;AHY28887;AHY28888;AHY28889;AHY28890;AHY28891;AHY28892;AHY28893;AHY28894;AHY28895;AHY28896;AHY28897;AHY28898;AHY28899;AHY28900;AHY28901;AHY28904;AHY28905;AHY28906;AHY28907;AHY28908;AHY28909;AHY28910;AHY28916;BAC87606;BAD92869;BAG57689;BAG58180;BAG62037;BAG64266;BAG64533;BAG65049;BAH14830;NP_569731;Q92617 Hs.611072;Hs.632865;Hs.656872;Hs.720286 5022200;5022578;5022588;5114620;5117220;5124491 Cda0uf06;D16S3313;D1S1423;D5S1597E;GDB:451833;L18426 FLJ17456;FLJ45371;FLJ54505;FLJ58661;FLJ79358;FLJ98670;KIAA0220;KIAA0220L;MGC105000;MGC70907;NPIP;NPIPB;NPIPB5;NPIPL3 KIAA0220-like protein;OTTHUMP00000239118;OTTHUMP00000239119;PI-3-kinase-related kinase SMG-1 isoform 1 homolog;nuclear pore complex interacting protein-like 3;nuclear pore complex-interacting protein B type;nuclear pore complex-interacting protein-like 3;protein pps22-1;putative NPIP-like protein KIAA0220-like APPROVED protein-coding HGNC:28989 PROVISIONAL 1345415 NPM1P1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 1 18 18 18 q12.3 36177456 36177945 - 39368871 39369360 - 41788906 41789395 - 8471164 4870 ABBA01022371;AC011712;AMYH02034607;L15315;NG_001162 NG1-1.6;NPMP1 pseudo HGNC:7911 INFERRED 1350397 NPM1P10 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 10 6 6 6 q16.3 105093216 105095147 - 104472802 104474734 - 104024927 104026859 - 10837 ABBA01014426;AL021330;AMYH02014213;NG_009882 pseudo HGNC:7912 INFERRED 1353809 NPM1P11 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 11 7 7 7 p21.3 11271791 11273056 - 11297002 11298267 - 11257375 11258640 - 10836 ABBA01056560;AC004538;AMYH02015232;CH236948;NG_022930 pseudo HGNC:7913 INFERRED 1345257 NPM1P12 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 12 7 7 7 q35 143700207 143701463 + 149031005 149032261 + 149333914 149335170 + 10835 ABBA01033629;AC004941;AMYH02017046;NG_000887 1729065 Npm1-rs pseudo HGNC:7914 INFERRED 7246139 NPIPB4 nuclear pore complex interacting protein family, member B4 FOUND IN integral component of membrane (inferred) 16 16 p12.2 21845889 21869843 - 21834568 21859347 - 10493829;9039502 440345 A8MSJ3;C9JB18;C9JG80;E7EQW1;E7EUG2;F5H108;F5H3D4;F5H5F2;F5H8A1 AC003007;AC092375;AC241409;AC241988;AK303607;XM_006721108;XM_006726610 AAC31671;BAH13994;C9JG80;XP_006721171;XP_006726673 Hs.611072 61E3.4 nuclear pore complex interacting protein-like protein-coding HGNC:41985 MODEL 1349766 NPM1P13 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 13 7 7 7 p21.3 18967855 18969126 - 18988214 18989485 - 18948591 18949862 - 12853948 10834 ABBA01056653;AC004994;AMYH02015315;CH236948;NG_000886;NG_023250 pseudo HGNC:7915 INFERRED 1351696 NPM1P14 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 14 7 7 7 q31.1 106972416 106974003 + 112160451 112162038 + 112520396 112521983 + 12853948 10833 ABBA01057846;AC005192;AMYH02016583;CH236947;NG_000885 pseudo HGNC:7916 INFERRED 1353642 NPM1P15 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 15 10832 AC005569 HGNC:7917 1345083 NPM1P17 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 17 3 3 3 q22.3 135867199 135868112 + 137442497 137443410 + 137723655 137724568 + 10830 ABBA01059100;AC007159;AF164688;AMYH02007763;NG_001233 pseudo HGNC:7919 INFERRED 1346879 NPM1P18 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 18 7 7 7 p14.2 36842890 36844043 + 36858468 36859621 + 36818863 36820016 + 10829 ABBA01056911;AC007349;AF164689;AMYH02015536;CH236951;NG_001232 pseudo HGNC:7920 INFERRED 1348866 NPM1P19 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 19 20 20 20 q12 34317029 34317829 - 37606357 37607157 - 38977714 38978514 - 10828 ABBA01052535;AF164690;AL023803;AMYH02037066;NG_001231 1771295 GDB:314027 pseudo HGNC:7921 INFERRED 1349461 NPM1P20 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 20 14 14 14 q32.31 82363605 82364974 - 102309098 102310467 - 101842761 101844130 - 326608 ABBA01048504;AL137779;AMYH02029887;NG_002597 1722089;1773123 G60086;WI-16879 pseudo HGNC:20140 INFERRED 7246166 NPIPB5 nuclear pore complex interacting protein family, member B5 FOUND IN integral component of membrane (inferred) 16 16 16 p12.2 12195448 12205513 - 22489791 22547856 + 22513523 22536521 + 11948212;12477932;8889548 100132247 A8MRT5;B4E0Y1;E5RHP9;E9PKP1;F5GWQ4;F5GXZ6;F5GYP3;F5GZP9;F5H6Y6;F6SDX0;H0YIL3;U3KRG3 ABBA01006896;AC106788;AC241410;AC244647;AK293635;AK296301;AK296338;AK303264;AK303572;AK316332;AL049250;BM672679;DC309028;NM_001135865 BAG57091;BAG59001;BAG59025;BAG64346;BAG64593;BAH14703;NP_001129337 Hs.611072;Hs.632865;Hs.720286 nuclear pore complex interacting protein family member;nuclear pore complex interacting protein related protein-coding ENSG00000243716 HGNC:37233 VALIDATED 1346945 NPM1P2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 2 18 18 18 q11.2 20595682 20597445 + 23784744 23786507 + 26204780 26206543 + 2157848;24024966;8471164 4871 ABBA01022582;AC016839;AMYH02034453;NG_009868;X54171 NG2-6;NPMP2 pseudo HGNC:7922 INFERRED 735682 NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) This gene encodes a phosphoprotein which moves between the nucleus and the cytoplasm. The gene product is thought to be involved in several processes including regulation of the ARF/p53 pathway. A number of genes are fusion partners have been characterized, in particular the anaplastic lymphoma kinase gene on chromosome 2. Mutations in this gene are associated with acute myeloid leukemia. More than a dozen pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009] 5 5 5 q35.1 166847258 166870233 + 170814652 170837888 + 171387648 171410884 + 1600902;1600907;1580863;6480464;6484113;7240710;8699517;8554872 15659725;15659732 10211837;10503877;11051553;11215285;11278991;11420665;11602260;11790298;11812799;11888936;12031912;12039952;12057857;12058066;12080348;12209603;12374805;12429849;12450141;12477932;12511551;12748172;12777385;12882984;14506644;14519847;14559993;14563642;14636574;14656879;14730621;14759373;14968112;15047060;15082766;15087454;15144954;15161933;15184379;15190079;15310764;15342556;15456888;15489334;15514966;15576338;15589822;15615785;15635413;15644315;15665273;15684379;15772089;15831697;15848144;15870172;15872011;15944709;15964625;15973451;15989956;15994285;16041368;16046528;16076867;16107701;16130169;16170350;16196087;16205118;16293633;16354571;16376875;16376884;16415342;16455950;16455956;16522924;16541144;16547420;16565220;16574551;16622419;16645213;16648475;16678898;16679321;16709933;16720834;16725311;16740634;16766651;16825495;16835382;16855788;16857742;16870548;16912078;16916647;16926303;16957780;17076533;17081983;17147251;17151698;17215513;17277230;17306368;17315018;17318229;17353931;17361185;17410190;17438371;17440048;17475909;17488663;17504301;17535915;17537995;17546053;17549383;17569113;17597811;17598835;17602943;17616680;17620599;17637812;17637816;17639390;17674968;17690253;17690700;17715399;17768124;17875528;17877154;17879352;17920239;17922009;17943167;17951246;17957027;17968318;17972951;17990177;17998938;18029348;18037965;18059485;18081718;18162579;18165222;18172692;18180033;18192111;18200037;18212063;18214681;18259216;18261272;18268276;18273044;18298902;18308931;18316603;18319061;18332108;18367491;18371977;18420587;18448670;18454140;18478020;18511415;18559874;18590714;18596743;18603563;18639523;18641025;18726096;18729828;18775548;18809582;18845790;18850631;18931307;18948745;18951898;18954305;19005479;19015314;19020547;19052985;19055671;19059939;19066330;19103589;19131589;19149558;19151774;19160485;19188445;19221506;19242062;19279329;19286999;19287380;19289604;19309322;19339032;19351769;19365794;19369962;19379554;19410544;19410545;19423729;19429869;19454010;19471022;19484332;19522705;19531656;19535344;19536888;19540590;19557552;19569254;19581289;19587375;19596686;19637342;19638589;19642896;19672946;19679565;19679658;19694479;19710015;19725029;19734942;19738201;19770764;19775300;19805454;19824900;19843866;19865112;19887368;19901261;19928837;19946338;19946888;19965647;20001230;20011973;20020773;20023256;20026798;20027629;20073075;20080577;20127469;20137111;20145123;20164180;2017166;20172040;20203266;20212148;20237420;20306250;20308430;20308691;20333249;20338617;20352051;20368469;20368538;20393185;20404347;20424160;20428199;20431927;20439648;20460684;20462248;20464055;20471513;20473970;20494930;20506166;20508983;20513120;20515654;20520634;20533335;20542566;20546020;20554525;20592250;20606168;20616361;20618440;20634376;20651067;20673208;20678218;20684989;20713446;20713529;20724983;20802533;20803351;20807181;20849383;20855646;20858903;20864535;20872983;20875872;20877721;20880116;20924036;20962268;20979630;20981679;21030560;21030982;21045017;21081666;21084279;2109912;21102525;21110914;21122805;21139048;21145461;21173125;21182205;21182834;21183700;21233837;21245151;21245599;21258971;21278791;21282530;21310483;21316727;21331074;21338238;21385873;21393327;21418451;21425800;21441929;21492127;21516736;21518927;21537333;21537492;21555683;21577323;21606167;21621842;21660047;21666141;21689627;21693764;21703420;21705779;21719597;21744003;21763502;21765024;21784052;21789382;21809990;21822216;21832049;21852383;21853274;21860418;21875946;21880628;21890473;21904378;21906983;21933585;21963094;21979956;21986840;21987572;21988832;22002061;22099964;22104247;22113938;22126574;22174271;22174317;22178446;22193965;22268729;22337638;22362118;22362753;22374696;22397365;22451695;22454318;22467873;22475129;22481022;22487825;22494415;22505724;22528486;22561347;22573554;22586326;22592607;22623428;22631075;22665062;22707729;22717133;22733614;22745010;22761710;22791379;22810585;22833565;22851180;22863883;22906848;22911473;22914610;22926011;22939629;22968966;22996295;23000965;23019224;23020761;23027902;23039052;23064464;23065518;23125841;23154527;23182705;23183427;23232117;23238897;23246001;23271972;23285058;23301224;23328624;23338972;23364796;23377436;23393136;23398456;23402259;23403313;23435463;23436734;23438482;23443559;23463506;23483572;23489260;23496932;23511494;23536448;23540998;23544830;23590662;23591014;23601747;23618861;23656730;23666693;23704090;23716555;23730215;23742937;23753029;23763915;23814019;23831574;23874603;23874639;23877794;23907410;23929838;24035716;2404140;24097631;24183235;24192815;24220271;24244333;24250222;24288427;2429957;24332808;24413856;24462683;24515769;24576674;24583282;24591637;24596420;24616519;24639526;24654937;24690621;24769896;2478125;24816145;24857377;25027693;2602120;2713355;2775293;3944116;7542384;7593322;7628555;7794916;7821789;7826206;8089149;8122112;8224012;8471164;8562957;8570204;8620867;8633037;8778315;9092633;9092824;9094689;9121481;9150888;9150948;9548374;9642267;9763551;9819383 4869 E5RGW4;E5RI98;P06748 AB042278;AB451236;AB451361;ABBA01044078;ABBA01044079;ABBA01044080;AC091980;AC093246;AI687394;AK000472;AK290652;AMYH02012733;AY347529;AY740634;AY740635;AY740636;AY740637;AY740638;AY740639;AY740640;BC002398;BC003670;BC008495;BC009623;BC012566;BC014349;BC016716;BC016768;BC016824;BC020467;BC021668;BC021983;BC024716;BC050628;BC107754;BP291033;BT007011;BU661768;CH471062;D28343;DQ303464;EF429251;J02590;M23613;M26697;M28699;M31004;NG_016018;NM_001037738;NM_002520;NM_199185;U89309;X16934;XM_005265920;XM_006714869 AAA36380;AAA36385;AAA36473;AAA36474;AAA58386;AAB94739;AAH02398;AAH03670;AAH08495;AAH09623;AAH12566;AAH14349;AAH16716;AAH16768;AAH16824;AAH21668;AAH21983;AAH50628;AAI07755;AAP35657;AAQ24860;AAW67752;AAW67753;AAW67754;AAW67755;AAW67756;AAW67757;AAW67758;ABC40399;ABM82958;ABM86149;ABP97432;BAA05709;BAA91188;BAB40600;BAF83341;BAG70050;BAG70175;CAA34809;EAW61443;EAW61444;EAW61445;EAW61446;EAW61447;EAW61448;EAW61449;NP_001032827;NP_002511;NP_954654;P06748;XP_005265977;XP_006714932 Hs.557550 1648924;1690772;5112854 D16S2968;REN60444;RH80894 B23;MGC104254;NPM OTTHUMP00000161024;OTTHUMP00000161025;OTTHUMP00000223397;OTTHUMP00000223398;nucleolar protein NO38;nucleophosmin;nucleophosmin 1;nucleophosmin/nucleoplasmin family, member 1;numatrin APPROVED protein-coding ENSG00000181163 HGNC:7910 01246 164040;601626 REVIEWED 7174906 NPM1P23 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 23 3 3 3 24073739 24074482 - 24138108 24138851 - 24096617 24097360 - 100422256 ABBA01025032;AC098971;AMYH02006408;NG_025558 pseudo HGNC:44513 INFERRED 7241632 NPM1P25 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 25 10 10 10 q24.1 91690430 91691176 - 97949229 97949975 - 96189473 96190219 - 399804 ABBA01021831;AC021037;AMYH02023584;NG_022156 pseudo HGNC:45204 INFERRED 7253812 NPM1P26 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 26 10 10 10 92062345 92063082 + 98319942 98320679 + 96560185 96560922 + 100422313 ABBA01021829;AL138765;AMYH02023592;NG_025538 pseudo HGNC:45205 INFERRED 7241103 NPM1P24 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 24 10 10 10 67962336 67963527 - 74677076 74678388 - 72917318 72918630 - 100422312 ABBA01020345;AC069548;AMYH02023327;NG_025446 APPROVED pseudo HGNC:45097 INFERRED 7253328 NPM1P27 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 27 5 5 5 88878524 88879700 - 93018225 93019522 - 93682519 93683816 - 100422243 ABBA01069282;AC106818;AMYH02011804;NG_024611 pseudo HGNC:45206 INFERRED 7241606 NPM1P28 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 28 3 3 q24 147308779 147309622 - 147590992 147591835 - 646849 ABBA01058968;AC112507;AMYH02007866;NG_022222 pseudo HGNC:45207 INFERRED 7255747 NPM1P29 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 29 3 3 3 148070134 148070938 - 149656780 149657584 - 149938993 149939797 - 100422259 ABBA01058936;AC117395;AMYH02007887;NG_025640 pseudo HGNC:45208 INFERRED 1351103 NPM1P3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 3 16 16 16 p13.3 5625349 5626661 + 5415697 5417009 + 5365696 5367008 + 8471164 4872 ABBA01026807;AC005569;AC074051;AMYH02031333;L15316;NG_001163 NG2-6;NG3-3;NPM1P15;NPMP3 pseudo HGNC:7923 INFERRED 7249255 NPM1P31 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 31 10 10 10 q26.13 120330011 120330837 + 126556080 126556903 + 124867511 124868334 + 100287472 ABBA01034155;AC068896;AMYH02023984;NG_022193 pseudo HGNC:45210 INFERRED 7241774 NPM1P32 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 32 2 2 2 q14.3 115790740 115791334 - 122466094 122466688 - 121708518 121709112 - 440902 ABBA01032248;AC018737;AMYH02004678;NG_021520 pseudo HGNC:45211 INFERRED 7255919 NPM1P33 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 33 2 2 2 q33.2 198392174 198393039 - 204637357 204638225 - 203772634 203773502 - 100131478 ABBA01062618;AC010138;AMYH02005602;NG_021548 pseudo HGNC:45212 INFERRED 7254643 NPM1P35 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 35 11 11 11 q12.3 59427796 59428667 + 62098420 62099288 + 62330948 62331816 + 100129067 ABBA01003222;AMYH02024887;AP003306;NG_021821 pseudo HGNC:45214 INFERRED 7241729 NPM1P36 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 36 6 6 6 p12.1 57465791 57466625 - 55804588 55805422 - 55939790 55940624 - 652423 ABBA01050502;AL589796;AMYH02013773;NG_022300 pseudo HGNC:45215 INFERRED 7251646 NPM1P37 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 37 6 6 6 70803590 70804460 - 70415182 70416052 - 69705290 69706160 - 100422261 ABBA01008896;AL590702;AMYH02013869;NG_025830 pseudo HGNC:45216 INFERRED 7253068 NPM1P38 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 38 6 6 6 q16.2 101142334 101143220 - 100498251 100499141 - 100050375 100051265 - 100128985 ABBA01014471;AL590732;AMYH02014190;NG_022318 pseudo HGNC:45217 INFERRED 7241619 NPM1P39 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 39 1 1 1 p36.11 25930878 25931738 + 27533421 27534281 + 27206930 27207790 + 440577 ABBA01034960;AL590640;AMYH02000595;NG_022773 pseudo HGNC:45218 INFERRED 7257457 NPM1P40 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 40 1 1 1 q32.1 176354123 176354875 + 203224862 203225614 + 203255734 203256486 + 100289584 ABBA01027484;AL359090;AL513326;AMYH02002513;NG_022825 pseudo HGNC:45219 INFERRED 7254101 NPM1P41 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 41 4 4 4 80222599 80223166 - 82931824 82932392 - 82010671 82011239 - 100422249 ABBA01063421;AC093754;AMYH02009590;NG_025136 pseudo HGNC:45220 INFERRED 7246367 NPIPA3 nuclear pore complex interacting protein family, member A3 INVOLVED IN mRNA transport (inferred); protein transport (inferred); FOUND IN nuclear pore (inferred) 16 16 p13.11 14802835 14820195 + 14708978 14726338 + 18055785 642778 E9PIF3;E9PNS9;E9PNV8;F8WFD2;O15103;Q9UND3 ABBA01009194;AC009167;AC136443;AC243753;NM_001277323;XM_005255484;XM_005255485;XM_006725205;XM_006725206;XM_006725207;XM_006725208;XM_006725209;XM_006725210;XM_006725211;XM_006725212;XM_006725213 F8WFD2;NP_001264252;XP_005255541;XP_005255542;XP_006725268;XP_006725269;XP_006725270;XP_006725271;XP_006725272;XP_006725273;XP_006725274;XP_006725275;XP_006725276 nuclear pore complex-interacting protein family member A3;nuclear pore complex-interacting protein-like 1-like protein-coding ENSG00000224712 HGNC:41978 VALIDATED 7241730 NPM1P42 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 42 15 15 15 q24.1 50070503 50071366 - 73191738 73192601 - 72899397 72900260 - 729686 ABBA01038720;AC103874;AMYH02030766;NG_022113 pseudo HGNC:45221 INFERRED 7252990 NPM1P43 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 43 15 15 15 50332667 50333826 - 73454117 73455271 - 73161776 73162930 - 100422309 ABBA01038714;AC104420;AMYH02030769;NG_025336 pseudo HGNC:45222 INFERRED 1353129 NPM1P4 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 4 13 13 13 q12.2 9344922 9346148 - 28270210 28271439 - 27696073 27697302 - 8471164 100128903 ABBA01035743;AL136439;AMYH02027757;L15317;NG_011457 NG4-5;NPMP4 pseudo HGNC:7924 INFERRED 7251970 NPM1P44 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 44 8 8 8 64090922 64091746 + 68097514 68098338 + 67185279 67186103 + 100422270 ABBA01041894;AC087359;AMYH02018126;NG_026109;NG_034100 pseudo HGNC:45223 INFERRED 7246636 NPIPA5 nuclear pore complex interacting protein family, member A5 16 16 p13.11 15457481 15475344 - 15363624 15413398 - 16712791;17207965;18055785 100288332 E9PJ88;E9PKD4 ABBA01012608;AC137803;AC140504;AC243733;CB123100;EL734608;KF175168;KF175170;KF175171;KF175172;KF175173;NM_001277325;XM_005255019;XM_005255020;XM_005255021;XM_005255024;XM_006720823;XM_006720824;XM_006720825;XM_006720826;XM_006720827;XM_006720828;XM_006725185;XM_006725186;XM_006725187;XM_006725188;XM_006725189 AHY28875;AHY28877;AHY28878;AHY28879;AHY28880;E9PKD4;NP_001264254;XP_005255076;XP_005255077;XP_005255078;XP_005255081;XP_006720886;XP_006720887;XP_006720888;XP_006720889;XP_006720890;XP_006720891;XP_006725248;XP_006725249;XP_006725250;XP_006725251;XP_006725252 Hs.676266;Hs.720303 NPIP NPIP-like protein 1-like;nuclear pore complex-interacting protein family member A5 protein-coding ENSG00000183793 HGNC:41980 VALIDATED 7252594 NPM1P45 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 45 17 17 17 9787378 9787945 - 9756058 9756625 - 9852741 9853308 - 100422316 ABBA01054964;AC026591;AMYH02032955;NG_026145 pseudo HGNC:45224 INFERRED 7241633 NPM1P46 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 46 2 2 2 q33.1 192000104 192001589 - 198244109 198245713 - 197379385 197380989 - 729342 ABBA01062473;AC010746;AMYH02005519;NG_021545 pseudo HGNC:45225 INFERRED 5129247 NPM1P22 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 22 13 13 13 q21.32 49308309 49309476 - 68405696 68406975 - 67831564 67832843 - 390411 ABBA01050293;AL353580;AMYH02028205;NG_011393 pseudo HGNC:39679 INFERRED 7250964 NPM1P47 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 47 15 15 15 q22.2 39263905 39264764 - 62374647 62375506 - 62082448 62083307 - 100129972 ABBA01038928;AC104590;AMYH02030574;NG_022111 pseudo HGNC:45226 INFERRED 7241775 NPM1P48 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 48 2 2 2 p25.2 4570164 4570902 - 4561908 4562646 - 4514318 4515056 - 442006 ABBA01006089;AC019102;AMYH02003207;NG_021491 pseudo HGNC:45227 INFERRED 7249215 NPM1P49 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 49 X X X 51493398 51494434 - 47298135 47299171 - 47438736 47439772 - 100422284 ABBA01052361;AL590223;AMYH02039281;NG_026690 pseudo HGNC:45228 INFERRED 7252796 NPM1P34 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 34 X X X q25 123799123 123800015 + 123414380 123415272 + 124280530 124281422 + 100128410 ABBA01036449;AL391241;AMYH02040424;NG_022699;NG_033796 1740271 DXS7859 pseudo HGNC:45213 INFERRED 1344626 NPM1P5 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 5 15 15 15 q26.1 69240822 69242326 + 92828960 92830464 + 92285730 92287234 + 8471164 4874 ABBA01053090;AC116903;AMYH02031070;L15318;NG_001165 NG5-4;NPMP5 pseudo ENSG00000258925 HGNC:7925 INFERRED 7252390 NPM1P50 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 50 11 11 11 q13.4 72096801 72099318 - 74790416 74791171 - 75079371 75080126 - 100129795 ABBA01017474;AMYH02025111;AP003175;NG_030170 pseudo HGNC:45229 INFERRED 7251365 NPM1P52 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 52 8 8 8 100215784 100216527 + 104028972 104029715 + 103016744 103017487 + 100422272 ABBA01037628;AMYH02018541;AP003550;NG_026123 pseudo HGNC:45231 INFERRED 1346390 NPM1P6 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 6 8 8 8 q12.2 58104671 58105964 + 62114814 62116104 + 61202255 61203545 + 8471164 4875 ABBA01041823;AC105015;AMYH02018061;L15319;NG_001166 NG6-4;NPMP6 pseudo HGNC:7926 INFERRED 1346507 NPM1P7 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 7 12 12 12 p13.31 15009298 15010559 + 9847883 9849145 + 9695287 9696549 + 8471164 10831 ABBA01067793;AC007068;AMYH02026017;L15320;NG_001167 NG7-6;NPM1P16;NPMP7 APPROVED pseudo HGNC:7927 INFERRED 1349973 NPM1P7 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 7 p13.31 8471164 4876 AC007068;L15320;NG_001167 1664873;1698334;1771295 GDB:314027;RH102708;STS-R00578 NG7-6;NPMP7 pseudo HGNC:7927 7254430 NPM1P51 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 51 6 6 6 p21.1 43188088 43188837 + 41634644 41635393 + 41666906 41667655 + 100130606 ABBA01050751;AL035588;AMYH02013609;NG_022355 1675690;1703182;1804106;1809122;1811354;1811604;1813218;1817974;1819700;1822218;1825324;1827562;1827564;1828642;1828946;1836122;1836738;1836898;1839060;1839400;1979086;1979088;1979090;1979092;1979094;1979096;1979098;1979100;1979102;1979104;1979106;1979108;1979110;1979112;1979114;1979116;1979118;1979120;1979122;1979124;1979126;1979128;1979130;1979132;1979134;1979136;1979138;1979140;1979142;1979144;1979146;1979148;1979150;1979152;1979154;1979156;1979158;1979160;1979162;1979164;1979166;1979168;1979170;1979172;1979174;1979176;1979178;1979180;1979182;1979184;1979186;1979188;1979190;1979192;1979194;1979196;1979198;1979200;1979202;1979204;1979206;1979208;1979210;1979212;1979214;1979216;1979218;1979220;1979222;1979224;1979226;1979228;1979230;1979232;1979234;1979236;1979238;1979240;1979242;1979244;2175620;2216104;2216106;2216108;2216110;2216112;2216114;2216116;2216118;2216120;2216122;2216124;2216126 ECD02971;ECD05550;ECD06675;ECD06805;ECD07629;ECD10042;ECD10917;ECD12195;ECD13768;ECD14898;ECD14899;ECD15448;ECD15600;ECD19222;ECD19533;ECD19613;ECD20709;ECD20882;REN60433;REN60434;REN60435;REN60436;REN60437;REN60438;REN60439;REN60440;REN60441;REN60442;REN60443;REN60445;REN60446;REN60447;REN60448;REN60449;REN60450;REN60451;REN60452;REN60453;REN60454;REN60455;REN60456;REN60457;REN60458;REN60459;REN60460;REN60461;REN60462;REN60463;REN60464;REN60465;REN60466;REN60467;REN60468;REN60469;REN60470;REN60471;REN60472;REN60473;REN60474;REN60475;REN60476;REN60477;REN60478;REN60479;REN60480;REN60481;REN60482;REN60483;REN60484;REN60485;REN60486;REN60487;REN60488;REN60489;REN60490;REN60491;REN60492;REN60493;REN60494;REN60495;REN60496;REN60497;REN60498;REN60499;REN60500;REN60501;REN60502;REN60503;REN60504;REN60505;REN60506;REN60507;REN60508;REN60509;REN60510;REN60511;REN60512;REN60513;RH93544;SGC32293;WI-21675;stSG634919;stSG634920;stSG634921;stSG634922;stSG634923;stSG634924;stSG634925;stSG634926;stSG634927;stSG634929;stSG634930;stSG634931 pseudo HGNC:45230 INFERRED 1351779 NPM1P8 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 8 X X X p21.1 36351461 36352291 + 32224022 32224852 + 32205905 32206735 + 100130233;10359 ABBA01073140;AC096506;AMYH02039137;NG_012232;NG_022651 1729764 DXS1238 pseudo HGNC:7928 INFERRED 1347718 NPM1P9 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 9 X X X p22.2 18967664 18968923 - 14852280 14853539 - 14834158 14835417 - 392428 ABBA01071236;ABBA01071237;AF164687;AMYH02038908;NG_005106;U70984 pseudo HGNC:7929 INFERRED 1349032 NPM3 nucleophosmin/nucleoplasmin 3 The protein encoded by this gene is related to the nuclear chaperone phosphoproteins, nucleoplasmin and nucleophosmin. This protein is strongly expressed in diverse cell types where it localizes primarily to the nucleus. Based on its similarity to nucleoplasmin and nucleophosmin, this protein likely functions as a molecular chaperone in the cell nucleus. [provided by RefSeq, Oct 2008] 10 10 10 q24.31 97279823 97281911 - 103541082 103543170 - 101781325 101783413 - 1580863;6480464 10736259;11722795;11790298;12477932;15489334;15635413;16169070;16341674;17081983;17207965;19471022;19710011;20073534;21139048;21693764;21900206;22190034;22362753;22863883;22939629;22968912;22990118;23402259;24457600;24583282;9177783 10360 O75607 ABBA01063188;AC010789;AF079325;AF081280;AMYH02023681;AY049737;BC041067;BC054868;BM739536;BM765409;CH471066;NM_006993 AAC31609;AAD51496;AAH41067;AAH54868;AAL12172;ADQ32115;EAW49745;NP_008924;O75607 Hs.90691 1657319;1691318;1736092;2109573;2134776;2176862;2217606;5119449 D10S1358E;D10S1366E;D10S2388;D20S985;MGEA5_3775;NPM3_9094;RH92375;WI-14063 TMEM123 OTTHUMP00000020352;PORMIN;nucleophosmin/nucleoplasmin family, member 3;nucleoplasmin-3 APPROVED protein-coding ENSG00000107833 HGNC:7931 07346 606456 REVIEWED 2946882 NPPA-AS1 NPPA antisense RNA 1 ASSOCIATED WITH Arrhythmias, Cardiac (inferred); Atrial Fibrillation, Familial, 6 (inferred); ATRIAL STANDSTILL 2 (inferred) 1 1 p36.21 11900376 11907673 + 11840319 11847616 + 8554872 19671135;21273288 100379251 ABBA01003060;AL021155;AMYH02000300;BQ776822;CA773133;FJ706070;FJ706071;FJ706072;FJ706073;FJ706074;FJ706075;FJ706076;FJ706077;FJ706078;FJ706079;HG491694;NR_037806 Hs.710015 NPPA-AS NPPAAS APPROVED ncrna HGNC:37635 PROVISIONAL 1604498 NPNT nephronectin ENCODES a protein that exhibits integrin binding (ortholog); INVOLVED IN branching involved in ureteric bud morphogenesis (ortholog); cell-cell adhesion mediated by integrin (ortholog); cell-matrix adhesion (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; extracellular region (ortholog); proteinaceous extracellular matrix (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 4 4 4 q24 104115729 104192091 + 106816588 106892828 + 105895432 105971671 + 6480464;8554872 11470814;11470831;12477932;12975309;15754038;19199708;19844573;20010835;20332099;22172726;23284291;23689482;8889548 255743 D6RE63;D6RH31;H0Y8M1;H0YA60;H0YAK9;Q6UXI9 ABBA01063737;ABBA01063738;ABBA01063739;AC093782;AC109361;AK172856;AK290029;AK295772;AK302477;AK304279;AK304721;AL832465;AMYH02009853;AW607534;AY358336;BC131587;BM970581;CD109759;CH471057;NM_001033047;NM_001184690;NM_001184691;NM_001184692;NM_001184693;XM_005262888;XM_005262889;XM_005262890;XM_006714171 AAI66654;AAQ88702;BAF82718;BAG58596;BAG63765;BAG65139;BAG65484;EAX06194;EAX06195;EAX06196;EAX06197;NP_001028219;NP_001171619;NP_001171620;NP_001171621;NP_001171622;Q6UXI9;XP_005262945;XP_005262946;XP_005262947;XP_006714234 Hs.518921 1650134;1650136;1663644;1706522 A006E27;G20746;SHGC-81233;STS-N22230 EGFL6L;POEM OTTHUMP00000219846;OTTHUMP00000219847;OTTHUMP00000219848;OTTHUMP00000219849;OTTHUMP00000219850;OTTHUMP00000219851;OTTHUMP00000219852;OTTHUMP00000219903;preosteoblast EGF-like repeat protein with MAM domain;protein EGFL6-like protein-coding ENSG00000168743 HGNC:27405 14141 610306 VALIDATED 2305457 NPM1P21 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 21 8 8 8 q12.1 53004254 53005671 - 57013470 57014920 - 56100911 56102361 - 100129237 ABBA01041762;AC107376;AMYH02018018;NG_011601 pseudo HGNC:13855 INFERRED 731641 NPR3 natriuretic peptide receptor 3 This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] 5 5 5 p13.3 32593318 32668888 + 32710284 32791830 + 32710178 32791724 + 1581459;1580773;737701;1580863;1580175;1580774;1580149;6480464;8554872 10468599;12872042;15044621;15337698;15789000;9405681 11181995;11256614;11533490;11556325;12477932;12768436;1309330;14702039;15017020;15459247;15489334;15785005;15911071;15911072;16291870;1660465;1672777;16870210;17081983;17192395;17890443;17951249;18633189;19086053;19326473;19343178;19352691;19458086;19570815;1979052;19913121;20379614;20398908;20546612;20628086;20691218;20700369;20823417;20881960;21464461;21572416;2162522;2169733;21909110;21909115;21963094;21987572;22001395;22116950;22421372;22559095;22995222;23493048;23563607;7727388;7901875;7996793;8620881 4883 A8K4A5;C9JK69;D6RDL8;H0Y9B9;P17342;Q60I31 AB101582;ABBA01066746;ABBA01066747;AC008766;AC026703;AF025998;AI335695;AK024116;AK290870;AK300094;AK308301;AMYH02011131;AMYH02011132;AMYH02011133;BC022250;BC131540;BF224187;BQ014050;CH471118;M59305;NG_028162;NM_000908;NM_001204375;NM_001204376;X52282;XM_005248309;XM_005248310 AAA51734;AAB88801;AAH22250;AAI31541;BAB14832;BAC56126;BAF83559;BAG61896;CAA36523;EAX10797;EAX10798;EAX10799;EAX10800;NP_000899;NP_001191304;NP_001191305;P17342;XP_005248366;XP_005248367 Hs.13528;Hs.619466 1762731;2123887;2160738;2160849;5113200 L28195;RH71385;SGC32140;SHGC-146519;SHGC-56933 ANP-C;ANPR-C;ANPRC;C5orf23;FLJ14054;GUCY2B;MGC22189;NPR-C;NPRC OTTHUMP00000161704;OTTHUMP00000197047;OTTHUMP00000197048;OTTHUMP00000220980;OTTHUMP00000226999;atrial natriuretic peptide clearance receptor;atrial natriuretic peptide receptor 3;atrial natriuretic peptide receptor type C;atrionatriuretic peptide receptor C;atrionatriuretic peptide receptor type C;guanylate cyclase C;natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) APPROVED protein-coding ENSG00000113389 HGNC:7945 00167 108962 REVIEWED 737293 NPM2 nucleophosmin/nucleoplasmin 2 ENCODES a protein that exhibits chromatin binding (inferred); enzyme binding (inferred); histone binding (inferred); INVOLVED IN chromatin remodeling; oocyte differentiation; positive regulation of meiosis; FOUND IN cytoplasmic chromatin; nuclear chromatin; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; benzo[a]pyrene 8 8 8 p21.3 20844417 20856471 + 21881621 21894408 + 22024110 22036897 + 1299559;6480464 12714744 12209603;12477932;12581654;14702039;16344560;18029348;19491193;20508983;21863821;22362753;22968912;23251661;23602568 10361 E5RFQ8;E5RGN1;Q86SE8 ABBA01005498;AC091171;AK094267;AK127602;AMYH02017587;AY262113;AY262114;BC068078;CH471080;DB262972;NM_001286680;NM_001286681;NM_182795;XM_006716272;XR_428300;XR_428301;XR_428302 AAH68078;AAP33134;AAP33135;BAG52852;EAW63730;EAW63731;EAW63732;NP_001273609;NP_001273610;NP_877724;Q86SE8;XP_006716335 Hs.131055 MGC78655 OTTHUMP00000161773;OTTHUMP00000224724;OTTHUMP00000224726;OTTHUMP00000224728;OTTHUMP00000224729;nucleoplasmin-2 protein-coding ENSG00000158806 HGNC:7930 12160 608073 VALIDATED 730878 NPPA natriuretic peptide A The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. [provided by RefSeq, Sep 2009] 1 1 1 p36.21 11019389 11021472 - 11905766 11907840 - 11845709 11847783 - 1580137;1579982;1580863;1578335;1580001;731210;1626244;1626242;2313586;2313590;2313592;2313589;2313591;2313593;1580773;6480464;7240710;7247713;7247715;7247722;7297056;7247315;7297044;7248593;7247717;7247731;7247720;7248602;7247714;7297054;7247723;1580139;1580154;1580140;7247716;7248660;7248663;7248617;1580000;7297049;7297051;7247719;8554872;8699517 10381153;10404802;11421854;11706124;12514664;12608696;12654066;12697975;12916000;14678232;15017020;15111511;15241786;15273657;15758553;15789000;16010968;16087130;16272201;17151304;19052536;19223006;19298916;19675071;20139323;20471588;2136863;2143809;22170009;22209992;23422200;23497378;23566312;23826817;23905381;23931972;24013683;8289999;9681733 10880574;11408388;11409652;11447495;11884416;11985060;12052474;12082592;12102171;12135603;12145475;12190955;12193960;12270761;12477932;12484513;12505872;12542678;12547834;12687344;12777209;12794112;12883099;12890912;12960255;1309330;14523183;14698679;14718574;15033935;15118286;15489334;15542826;15604093;15648549;15666592;15837528;16100725;16113566;16117728;16291573;16368448;1660465;16710414;16713569;16721833;1672777;16870210;16875975;16962475;17036337;17051589;17219958;17243909;17259761;17292492;17460430;17525707;17580193;17584735;17672826;17693975;17702963;17890443;17890485;17900714;17901852;17927564;17943627;17984371;18092954;18172431;18212314;18243818;1826098;18280250;18294255;18513389;18539145;18614783;18633189;18660489;18713751;18759454;18855222;18989245;19008326;19046820;19086053;19131662;19141362;19146799;19155075;19219041;19238444;19263529;19264973;19326473;19330901;19346663;19387964;19420105;19430483;19458086;19479237;19559392;19564455;19578796;19597492;19635983;19646991;19666519;19671135;19702001;19729120;19729601;19845278;19913121;19948975;20024606;20026756;20064500;20137368;20346360;20368210;20407391;20416077;20452482;20453667;20530040;20536507;20543198;20577119;20628086;20673868;20680650;20700369;20726994;20872251;20877298;21073007;21216831;21276088;21349128;21408188;21450637;21600847;21672517;21689370;2169733;21734186;21741108;21744319;21757823;21798427;21881323;21892902;21952518;21992849;22112816;22113444;22285803;22370591;22400494;22575314;22595807;22962310;22981931;23258247;23275345;23279037;23542086;23637347;23690218;23799939;23867623;23905909;24030529;24041948;24101702;24220659;24315351;24498905;2531377;2934979;2972276;3158606;6095118;6095119;6097248;6203042;6230082;6238331;6542248;6547996;7857923;8043577;9232196 4878 B0ZBE8;P01160 AA779538;ABBA01003060;AL021155;AMYH02000300;BC005893;CH471130;EU326308;K02043;K02044;K02399;M30262;M54947;NG_012926;NM_006172;X01470;X01471 AAA35528;AAA35529;AAA35669;AAA51730;AAB59379;AAH05893;ABM84041;ABM87388;ABW03581;ACA05916;CAA25699;CAA25700;EAW71717;NP_006163;P01160 Hs.75640 1682710;1742313;1742979;1744671;1748413;2144428 GDB:196313;GDB:226664;GDB:549199;Nppa;RH80468;SHGC-74238 ANF;ANP;ATFB6;ATRST2;CDD-ANF;PND OTTHUMP00000002504;atrial natriuretic factor;atriopeptin;cardionatrin;natriuretic peptide precursor A;natriuretic peptides A;prepronatriodilatin APPROVED protein-coding ENSG00000175206 HGNC:7939 00164 108780;612201;615745 REVIEWED 1351265 NPPC natriuretic peptide C The protein encoded by this gene is proteolytically processed to form a secreted hormone of the natriuretic peptide family. The encoded hormone regulates the growth and differentiation of cartilaginous growth plate chondrocytes and may also be vasoactive and natriuretic. [provided by RefSeq, Sep 2011] 2 2 2 q37.1 226553391 226554215 - 232786805 232791038 - 231922095 231926328 - 1580150;1580149;1601488;1580863;1580770;1642294;1642268;1642292;1642297;1642267;1642296;6480464 10828832;11775888;12452325;15337698;16537417;16677483;17709640;8117275;8743538;8989116 11533490;12167597;12379507;12477932;12709393;12736257;1309330;1339402;14654233;1472040;15231517;15489334;15598085;15815621;15911070;16006435;16109786;16179391;1660465;1672777;16777970;17289171;17487764;17951249;18280250;18391643;18391951;1855454;19008326;19086053;19161538;19293575;19326473;19570815;19620509;19913121;20085572;20090473;2018508;20398908;20551602;20553977;20628086;20700369;20721606;20797397;20802130;20832589;20881960;20934962;20966902;21276798;21820448;21865234;22285383;22421372;22435455;22645228;22884919;22962429;23262354;23542429;23732776;23911666;24099862;24845564;7698765;8330189;8353861;8674895;9155593;9232196 4880 E5LCN7;P23582 ABBA01002031;AC013435;AMYH02005979;BC069120;BC105065;BC105067;CH471063;CS788277;D28874;D90337;JF420840;M64710;NM_024409 AAA35703;AAH69120;AAI05066;AAI05068;AAX88912;ADZ36320;BAA14351;BAA22154;CAP12670;EAW70984;NP_077720;P23582 Hs.247916;Hs.627236 1790349;5492933;5494021 NPPC;UniSTS:480745;UniSTS:483279 CNP;CNP2 C-type natriuretic peptide;OTTHUMP00000164308;OTTHUMP00000203815;natriuretic peptide precursor C APPROVED protein-coding HGNC:7941 08975 600296 REVIEWED 732882 NPR1 natriuretic peptide receptor 1 Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009] 1 1 1 q21-q22 126722358 126737655 + 153651093 153666468 + 153678617 153693992 + 1580154;1580174;1580175;1580176;1580863;737701;628585;1626243;1300048;6480464;6907045;7247722;7247730 11851379;12511524;12872042;14646971;16272201;17264312;19223006;7552344;9405681 10581150;11704663;11952097;12121994;12135318;12477932;12483301;12506509;12547834;12727915;12794112;12855709;1309330;14737067;14960748;15231748;15459247;15489334;15911067;15911069;15911610;16262696;1660465;16710414;1672777;16778132;16875975;16986166;17460430;17672826;18306933;18360023;18383440;18436476;18713751;19086053;19126660;19165164;19326473;19458086;19563399;19679847;1979052;20024606;20034689;20360068;20452482;20529973;20673868;20700369;20977274;21366551;21375691;21586128;21828054;21963094;22001395;22133375;22949736;23186809;24699414;2569967;7601467;7857923;7901875;7954658;7982997;8786123;9528788;9618281 4881 B0ZBF1;P16066 AB010491;AB046472;ABBA01049444;AF190631;AK025024;AK298090;AK300446;AL713889;AMYH02001904;AMYH02001905;BC063304;CH471121;EU326310;NM_000906;S72628;X15357;XM_005245218;XM_006711342;XM_006711343 AAD14112;AAF01340;AAH63304;ACA05918;ACA05919;BAA31199;BAC53955;BAG62168;BAH12723;CAA33417;EAW53284;NP_000897;P16066;XP_005245275;XP_006711405;XP_006711406 Hs.490330 1684704;2107443;2134807;2152955 G15870;NPR1_7841;RH68403;RH99065 ANP-A;ANPR-A;ANPa;GC-A;GUC2A;GUCY2A;NPR-A;NPRA ANPRA;OTTHUMP00000035155;atrial natriuretic peptide receptor 1;atrial natriuretic peptide receptor type A;atrionatriuretic peptide receptor A;guanylate cyclase A;natriuretic peptide A type receptor;natriuretic peptide receptor A;natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) APPROVED protein-coding ENSG00000169418 HGNC:7943 00165 108960 VALIDATED 2291750 NPS neuropeptide S INVOLVED IN neuropeptide signaling pathway (inferred); positive regulation of action potential (inferred); positive regulation of synaptic transmission, GABAergic (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH maneb (ortholog); paraquat (ortholog); pyridaben (ortholog) 10 10 10 q26.2 123018049 123021372 + 129347613 129350935 + 127549349 127552671 + 6480464 12036966;15312648;15947423;16279934;16282594;16574794;16720571;16790440;16926187;18181564;18376418;19240061;19824051;20405330;20705147;23142110;24386135 594857 P0C0P6 ABBA01009088;AL355316;AMYH02024018;BD168686;NM_001030013 AAI48466;AAI56666;NP_001025184;P0C0P6 Hs.643423 prepro-neuropeptide S protein-coding ENSG00000214285 HGNC:33940 609513 PROVISIONAL 2290197 NPSR1-AS1 NPSR1 antisense RNA 1 This gene is located within a region that has been associated with asthma susceptibility. The locus is considered non-protein-coding based on lack of protein homology and a lack of experimental support for an encoded protein. Three alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2010] 7 7 7 p14.3 34367249 34855691 - 34386124 34873943 - 34346512 34834331 - 6480464;8554872 12477932;15073379;20395963;23382691 404744 Q6W4W4 ABBA01056876;ABBA01056877;ABBA01056878;ABBA01056879;ABBA01056880;ABBA01056881;ABBA01056882;ABBA01056883;ABBA01056884;AC004788;AC005173;AC005174;AC005490;AC005491;AC005492;AC005493;AC005502;AC005582;AC005680;AC005685;AC005688;AC005852;AC005853;AC005862;AMYH02015504;AMYH02015505;AMYH02015506;AMYH02015507;AY312364;AY312365;AY312366;AY312367;AY312368;AY312369;AY312370;AY312371;AY312372;AY312373;AY321515;AY321516;BC031961;BC130477;BX649082;CH471073;KC877195;KF458424;NG_021366;NR_015356;NR_033664;NR_033665;U85653 AAQ85133;AAQ85134;AAQ85135;AAQ85136;AAQ85137;AAQ85138;AAQ85139;AAQ85140;AAQ85141;AAQ87609;AAQ87610;EAW94027;EAW94028;EAW94029;EAW94030;EAW94031;EAW94032;EAW94033 Hs.487951 1338034;1340844;1645456;1647419;1659345;1661282;1676918;1679539;1691398;1691400;1691402;1691404;1691406;1691410;1706266;1710222;1715535;1718149;1718507;1760449;1768805;1772132;1847563;1852752;1855815;2122028;2122481;2129692;2137260;2140820;2142811;2152711;2168586;2176577;2184168;2218166;5096374 AAA1__4226;AFM067XA9;D6S258;D7S2237;D7S2916;D7S497;G16032;G16037;G16038;G16039;G16040;G16045;G16046;G42096;G42097;G42098;G42099;G42100;G42102;GDB:1317338;GDB:1318428;GDB:3755015;GDB:3755035;GDB:6028489;RH121422;RH122842;RH123514;RH36381;RH44587;RH79868;SGC34904;SGC35025;SHGC-142894;SHGC-56032;SHGC-80683;SHGC-83741;WI-21900 AAA1 APPROVED ncrna ENSG00000197085 HGNC:22128 12265 608596 VALIDATED 1347629 NPSR1 neuropeptide S receptor 1 This gene encodes a member of the vasopressin/oxytocin subfamily of G protein-coupled receptors. The encoded membrane protein acts as a receptor for neuropeptide S and affects a variety of cellular processes through its signaling. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 7 7 7 p14.3 34678763 34899690 + 34697897 34917944 + 34658285 34878332 + 4891930;4891932;4891921;4891922;4891923;4891931;6480464;7240710;8554872 15073379;16938805;17702965;17854592;18285428;20179762 12036966;12477932;12679517;12690205;14702039;14757815;15312648;15710598;15741670;15764725;15777626;15941840;15947423;15990798;16098057;16522461;16790440;16829631;16926187;17210045;17285544;17669576;17703412;18029348;18305139;18340359;18588753;19247692;19258923;19264973;19325992;19614867;19624525;19732772;19824051;19874863;19913121;19951440;19996348;20379614;20503287;20603625;20628086;20628342;20701904;20705147;21525857;21707994;22078257;22216302;22479518;22548958;23142110;23319044;23372674;23382691;23466585;23565190;23680103;23911665;24239856;24331455;24439655;24754478;24800784;24896296;24915894 387129 B7ZMA2;Q6W5P4 AACC02000103;ABBA01056879;ABBA01056880;ABBA01056881;ABBA01056882;ABBA01056883;ABBA01056884;AC004788;AC005174;AC005492;AC005493;AC005680;AC005853;AC005862;AK124929;AK172847;AMYH02015505;AMYH02015506;AMYH02015507;AY255536;AY310326;AY310327;AY310328;AY310329;AY310330;AY310331;AY310332;AY956446;AY956447;AY956448;BC132693;BC132695;BC144380;CH471073;DQ272236;KC877195;KF458424;NG_012185;NM_001300933;NM_001300934;NM_001300935;NM_207172;NM_207173;XM_005249753;XM_005249754;XM_005249755;XM_005249756 AAI32694;AAI32696;AAI44381;AAO85048;AAQ76966;AAQ76967;AAQ76968;AAQ76969;AAQ76970;AAQ76971;AAQ76972;AAX63744;AAX63745;AAX63746;ABB72550;ADR82967;BAD18811;EAL24469;EAL24470;EAW94034;EAW94035;EAW94036;EAW94037;NP_001287862;NP_001287863;NP_001287864;NP_997055;NP_997056;Q6W5P4;XP_005249810;XP_005249811;XP_005249812;XP_005249813 Hs.652373 1338034;1691400;1691404;1691406;1691410;1710222;1768805;1772132;1790397;1847563;1852752;2110435;2140820;2168586 D7S3241;D7S497;G16032;G16040;G42097;G42099;G42100;G42102;GDB:3755015;GDB:3755035;GPR154__7542;SHGC-56032;SHGC-83741;WI-21900 ASRT2;GPR154;GPRA;NPSR;PGR14;VRR1 G protein-coupled receptor 154;G protein-coupled receptor for asthma susceptibility;G-protein coupled receptor 154;G-protein coupled receptor PGR14;G-protein coupled receptor for asthma susceptibility;OTTHUMP00000125228;OTTHUMP00000125229;OTTHUMP00000202902;OTTHUMP00000202905;OTTHUMP00000229151;neuropeptide S receptor;vasopressin receptor-related receptor 1 APPROVED protein-coding ENSG00000187258 HGNC:23631 10547 608584;608595 REVIEWED 7240985 NPTN-IT1 NPTN intronic transcript 1 (non-protein coding) 15 15 q24.1 73859279 73861884 - 73566938 73569543 - 14702039;15146197;21769904;23395002;25213660 101241892 ABBA01038709;AC022735;AK055007;AL360198;AMYH02030773;CN411881;NR_103844 Hs.656678 1646055;1670614 D15S904;SHGC-24300 lncRNA-LET ncrna HGNC:45091 615176 VALIDATED 69139 NPPB natriuretic peptide B This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq, Jul 2008] 1 1 1 p36.2 11031156 11032627 - 11917521 11918992 - 11857464 11858935 - 1580138;1580139;1580143;1580863;1580140;70484;1626243;1642202;1642205;1642206;1642191;1642194;1642195;1642192;1642199;1642203;1642265;1642266;1642294;2324684;2293330;2324680;5685647;5685654;5685644;5685653;5685657;5685645;5685651;6480464;5685652;5685663;7248593;7297044;7247627;7248594;7248603;7247622;7248605;7247624;7247731;7247724;7246912;1580154;7247316;7247634;7246907;7246914;7247621;7247632;7327171;7247623;7247715;7248591;7248670;7297051;7247628;7247629;7248660;7246908;7247620;7247315;6907405 10404802;10636255;10828832;11421854;11729234;11897768;12697975;16272201;16762434;16893710;16917760;16936438;17118955;17151299;17256064;17273651;17296640;17303690;17392814;17554401;17639095;18068619;18192848;1831369;19413180;19858735;20139323;20438292;21168723;21403100;21410593;2143809;21689089;21808206;21959345;22037102;22038201;22071162;22087201;22165670;22188107;22209992;22397941;22863432;23122795;23192919;23373852;23415693;23562569;23725445;23733199;23837838;23905381;23940514;24009719;24013683;7552344;7606877;7657802;8289999;9350073 11120697;11750283;11999635;12015190;12084525;12477932;12601551;12612980;12727915;12742987;12771003;12832317;12861161;12890912;1309330;14645255;14726474;14737067;14960748;14967157;15118286;15277419;15489334;15525883;15604421;15616804;15619076;15644628;15686715;15689309;15732251;15735222;15875778;15911064;15947264;16037399;16061439;16117728;16179421;16185779;16189514;16203929;16236896;16236924;16236931;16293687;16298451;16338248;16338261;16338262;16338263;16338268;16377932;16386619;16446217;16495466;16546444;16594987;16600203;1660465;16624649;16644347;16648193;16697117;16710414;16716660;16722030;1672777;16733597;16733598;16754798;16801175;16829184;16831981;16870210;16875975;16937127;16940194;16962475;16962477;17086116;17097992;17099013;17112494;17149558;17175893;17186137;17289171;17323015;17340039;17343213;17365940;17381357;17412758;17478552;17482153;17490778;17517347;17519779;17567649;17607499;17607502;17643631;17662495;17669797;17690842;17719005;17721754;17785934;17822384;17855407;17879024;17881654;17891611;17899307;17900714;17901852;17943627;17959862;17972161;17996240;18037101;18037739;18037753;18049439;18054808;18055041;18077013;18160811;18163013;18177956;18191909;18194671;18219371;18243818;18252905;18255169;18256871;18258801;18298592;18309461;18319268;18322550;18326895;18328262;18335382;18347270;18353715;18353850;18362234;18374882;18375252;18378336;18388105;18394002;18394456;18418236;18440296;18443568;18450924;18484161;18495276;18513509;18513528;18528966;18537757;18562472;18573197;18602177;18609042;18609050;18632168;18632852;18649054;18649955;18654020;18660489;18701924;18703243;18706401;18712036;18721456;18728335;18729306;18759301;18762474;18774614;18786480;18789145;18794210;18816264;18823968;18824845;18835219;18855222;18923244;18948614;18957868;18971547;18971552;18971785;19008326;19028043;19032759;19042041;19077418;19086053;19103499;19116708;19127569;19130415;19155075;19157602;19157978;19166616;19168558;19172697;19183435;19189316;19194108;19194564;19210529;19214022;19219041;19221295;19237086;19247872;19262210;19263527;19275472;19293713;19298805;19299763;19322079;19326473;19327104;19327608;19329198;19339274;19356487;19356514;19356808;19359532;19359811;19377085;19386989;19387249;19387960;19391062;19394710;19398076;19407818;19424098;19430483;19444135;19455566;19477027;19487972;19492165;19494782;19497572;19505208;19523464;19542490;19546389;19560452;19568166;19581836;19584071;19606057;19615861;19615987;19635983;19638709;19642911;19643359;19653574;19662018;19667278;19670155;19685518;19690080;19708225;19712988;19719987;19719993;19729213;19729800;19740358;19755761;19808368;19809305;19815210;19816874;19830720;19838110;19843778;19844734;19845751;19860001;19897258;19900726;19913121;19919978;19920165;19929142;19929271;19932518;19944367;19945451;19968983;20002300;20023254;20024643;20034689;20038279;20051875;20083731;20087954;20090534;20102554;20113292;20140438;20142019;20142024;20142028;20142114;20173383;20187770;20214692;20216395;20223915;20228511;20234137;20346360;20350538;20364046;20368210;20370326;20373129;20378998;20407391;20441480;20470220;20470299;20485180;20492497;20505308;20505514;20506274;20507952;20519808;20528912;20536328;20539839;20539843;20553977;20562693;20575653;20576043;20576050;20581772;20598759;20610233;20628086;20636229;20655247;20660094;20674395;20690091;20700369;20701470;20709045;20713912;20726994;20727348;20729741;20731986;20804651;20805692;20807228;20812386;20829070;20835904;20846963;20849244;20883932;20887619;20930495;20947817;20956023;20978564;20979755;21041973;21067752;21070664;21086902;21108561;21110196;21110214;21111985;21127887;21131173;21131684;21152016;21162718;21173540;21178638;21188387;21194766;21199206;21200085;21214096;21215559;21217075;21225672;21234705;21261781;21273288;21297144;21304210;21333352;21343155;21364112;2136732;21367474;21371160;21376713;21387129;2138890;21394710;21396728;21397374;21397962;21413834;21435188;21450621;21450626;21464097;21464227;21470289;21473725;21480001;21486579;21498911;21514286;21516440;21526421;21538234;21543459;21558448;21567460;21584749;21600847;21604967;21617607;21620395;21624043;21629202;21663466;21689859;21696613;21697610;21700090;21701385;21714421;21763278;21779816;21792022;21795086;21798425;21807382;21807423;21824924;21838836;21857933;21858735;21872142;21884743;21891968;21892902;21900689;21909110;21939835;21952518;21955499;21955828;21960417;21993227;22000971;22018780;22072300;22087311;22105112;22113444;22116811;22137497;22138041;22143056;22154198;22160408;22166506;22209994;22222353;22234370;22234513;22242262;22251274;22286795;22307842;22310189;22313067;22316276;22322531;22325151;22327025;22349089;22368903;22374183;22384001;22386698;22390472;22396190;22397400;22412224;22421508;22439818;22459392;22459404;22532404;22536076;22541282;22543574;22545649;22546865;22547689;22581254;22592287;22608896;22626835;22629130;22645408;22658561;22664008;22670496;22676431;22685586;22691215;22695938;22740123;22748606;22753861;22773432;22785411;22797925;22825646;22834778;22841166;22847152;22878353;22878801;22914252;22921817;22926410;22938543;22973461;22989031;22997250;22998064;23006812;23012317;23019395;23033840;23042311;23047817;23051933;23058722;23064562;23071500;23084819;23114906;23119023;23132698;23149248;23152754;23152884;23183321;23207119;23217478;23228375;23269269;23280329;23289011;23293174;23302112;23315043;23318845;23341901;23349346;23350927;23357662;23377871;23391507;23419987;23422348;23471272;23477424;23483221;23496263;23516493;23518421;23542086;23552626;23568644;23574011;23585345;23602778;23615024;23639511;23643288;23645505;23653297;23656924;23667500;23668272;23669527;23684562;23747879;23789447;23792241;23801020;23803318;23826659;23831167;23852911;23861381;23869896;23876603;23916937;23924312;23925410;23932576;23942766;23964619;24015598;24030529;24036936;24054827;24060192;24065415;24080362;24093631;24101702;24126437;24169536;24186915;24217044;24217163;24217402;24219732;24236118;24244755;24265747;24312541;24324290;24324775;24327531;24334757;24340744;24356556;24421874;24453873;24463920;24470529;24498905;24519407;24523584;24593826;24657652;24719984;24757103;24779290;24821636;2522777;25248238;2597152;7601467;7901875;8837222;8890728;9832489 4879 P16860 AB037521;ABBA01003061;AJ708502;AL021155;AMYH02000300;BC025785;CH471130;CR541976;CR542003;EU326309;M25296;M31776;NM_002521 AAA35603;AAA36355;AAH25785;ACA05917;BAA90441;CAG46774;CAG46800;EAW71718;EAW71719;NP_002512;P16860 Hs.219140 1777546 G09534 BNP OTTHUMP00000002506;brain type natriuretic peptide;gamma-brain natriuretic peptide;natriuretic peptide precursor B;natriuretic peptides B;natriuretic protein APPROVED protein-coding ENSG00000120937 HGNC:7940 08974 600295 REVIEWED 1321571 NPTX1 neuronal pentraxin I NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 75069005 75078529 - 78440633 78450404 - 80466833 80476604 - 1580863;6480464 10748068;11239433;12477932;14702039;15489334;16115696;16344560;17151277;19322201;21110914;21963094;22939629;8884281 4884 Q15818 ABBA01015399;ABBA01015400;AC120024;AI124625;AK124701;AK127335;AL119012;AMYH02034106;BC089441;BX537550;CH471099;CK005561;DA188847;FB749994;NM_002522;U61849 AAC50727;AAH89441;ACE86608;ACE87289;BAG54073;BAG54485;CAT02176;EAW89617;NP_002513;Q15818 Hs.514556;Hs.715784 DKFZp686J2446;MGC105123;NP-I;NP1 neuronal pentraxin-1 APPROVED protein-coding ENSG00000171246 HGNC:7952 03843 602367 REVIEWED 1319794 NPTX2 neuronal pentraxin II This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009] 7 7 7 q21.3-q22.1 92941625 92954210 + 98246597 98259181 + 98617285 98629869 + 1580863;6480464;8554872 10748068;12477932;12690205;12853948;15489334;16115696;17408830;17895837;17987278;19058789;19667215;21161403;21778928;21812817;22460132;22806544;23360791;23624749;23889936;24078801;8530029;9261167 4885 P47972 ABBA01045712;ABBA01045713;AC074121;AC092688;AK311250;AMYH02016337;AMYH02016338;BC009924;BC034781;BC035339;BC048275;BI561105;CH236956;CH471091;NG_009905;NM_002523;U26662;U29195 AAA68980;AAA92296;AAH09924;AAH34781;AAH35339;AAH48275;AAQ93363;ABM83978;ABM87299;EAL23889;EAW76705;NP_002514;P47972 Hs.3281 1646489;1646491;2134321;2142370;2164491 1878;A001X35;D7S2113E;G19759;NPTX2 NARP;NP-II;NP2 OTTHUMP00000205574;apexin;neuronal activity-regulated pentaxin;neuronal pentraxin-2 APPROVED protein-coding ENSG00000106236 HGNC:7953 02853 600750 REVIEWED 733765 NPR2 natriuretic peptide receptor 2 This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008] 9 9 9 p21-p12 35725947 35743260 + 35789962 35809728 + 35754654 35809731 + 1580771;1580772;1580863;1601488;1300048;6480464;6907045;7240710;8554872;8699517 10082481;15722353;16537417 10073597;11208455;11464256;11556325;12022755;12477932;12709393;1309330;1327579;14687666;14759258;14988324;15146390;15164053;15262909;15371450;15459247;15489334;15911070;15911610;1660465;1672777;17429599;17652215;18945719;19086053;19108585;19167912;19326473;19413180;19458086;1979052;19913121;20079378;20123316;20600420;20628086;20664698;20700369;20977274;21139048;21366551;21828054;22039354;22133375;22421372;22633662;22645228;22691581;22870295;22884919;22949736;23000965;23186809;23586811;23827346;23835779;24001744;24431432;24471569;24699414;2570358;7679284;8765168;9624142;9634515 4882 H7C056;H7C1A1;H7C1X0;P20594 AB005647;ABBA01064984;AJ005282;AL133410;AMYH02019466;BC023017;BQ446138;CH471071;EU326311;L13436;NG_009249;NM_003995;XM_005251478;XM_005251479;XM_006716778 AAH23017;AAI66642;ACA05920;ACA05921;ACA05922;BAA81737;CAA06466;EAW58337;EAW58338;EAW58339;EAW58340;NP_003986;P20594;XP_005251535;XP_005251536;XP_006716841 Hs.78518 1684507;2107445;2143753;2181442 NPR2_7842;RH47078;SHGC-12605;STS-S83157 AMDM;ANP-B;ANPR-B;ANPRB;ANPb;ECDM;GC-B;GUC2B;GUCY2B;NPR-B;NPRB;NPRBi OTTHUMP00000021345;acromesomelic dysplasia, Maroteaux type;atrial natriuretic peptide B-type receptor;atrial natriuretic peptide receptor 2;atrial natriuretic peptide receptor type B;guanylate cyclase B;natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) APPROVED protein-coding ENSG00000159899 HGNC:7944 00166 108961;602875;615923 REVIEWED 1606330 NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) The function of the encoded protein is not known. [provided by RefSeq, Aug 2011] 16 16 16 p13.3 337330 390318 - 135800 188697 - 85801 138698 - 6480464;8554872 12477932;14702039;15616553;16344560;16728641;17207965;19521502;19666006;20308539;21555518;21906983;21963094;22538705;23222517;23263863;23406172;23446634;24250222;8575760 8131 B1B1F5;B7Z220;B7Z6Q0;F8WBJ1;F8WCB2;F8WDA5;F8WEK7;Q12980;Q9BTE2 ABBA01030389;ABBA01030390;ABBA01030391;ABBA01030392;ABBA01030393;ABBA01030394;AK026990;AK090717;AK125420;AK294228;AK298795;AK300736;AMYH02031177;AMYH02031178;BC004185;BC012825;BC020392;CH471112;DA075508;DA258664;DA658076;DC384076;DQ431198;KF456132;KF459691;KF510417;NG_029669;NM_001039476;NM_001077350;NM_001243247;NM_001243248;NM_001243249;X90857;Z69666;Z69720;Z84722;Z84813 AAH04185;AAH12825;ABD95907;ADQ32756;BAG52219;BAH11706;BAH12872;BAH13336;CAA62368;CAB06556;CAI94885;CAI94886;CAI95611;CAI95612;CAM13055;EAW85865;EAW85867;EAW85868;NP_001034565;NP_001070818;NP_001230176;NP_001230177;NP_001230178;Q12980 Hs.19699 1339419;1742995;1748225;1748293;1759953;1767699;1791458;1799136;1799582;1804566;1805240;1805242;1805384;1805586;1806124;1806340;1806948;1807558;1809400;1811706;1812244;1812372;1812744;1813536;1814140;1814854;1815230;1815806;1816290;1817478;1818580;1820788;1822970;1824720;1825514;1826160;1828676;1829224;1830192;1830896;1831926;1834348;1835530;1836706;1836760;1837508;1837510;1838364;1838630;1838748;1839258;1840658;1840960;1841496;1842798;2047006;2047008;2047010;2047012;2047014;2047016;2047018;2047020;2047022;2047024;2047026;2047028;2047030;2047032;2047034;2047036;2047038;2047040;2047042;2047044;2047046;2047048;2047050;2047052;2047054;2047056;2047058;2047060;2047062;2047064;2047066;2047068;2047070;2047072;2047074;2047076;2047078;2047080;2047082;2047084;2047086;2047088;2047090;2047092;2047094;2047096;2047098;2047100;2047102;2047104;2047106;2047108;2047110;2047112;2047114;2047116;2047118;2047120;2047122;2047124;2047126;2047128;2047130;2047132;2047134;2047136;2047138;2047140;2047142;2047144;2047146;2047148;2047150;2047152;2047154;2047156;2047158;2047160;2047162;2047164;2047166;2047168;2047170;2047172;2047174;2047176;2047178;2047180;2047182;2047184;2047186;2047188;2047190;2047192;2047194;2047196;2047198;2047200;2047202;2047204;2047206;2047208;2047210;2047212;2047214;2047216;2047218;2047220;2047222;2047224;2047226;2047228;2047230;2047232;2047234;2047236;2047238;2047240;2047242;2047244;2047246;2047248;2047250;2047252;2047254;2047256;2047258;2047260;2047262;2047264;2047266;2047268;2047270;2047272;2047274;2047276;2047278;2047280;2047282;2047284;2047286;2047288;2047290;2047292;2047294;2047296;2047298;2047300;2047302;2047304;2047306;2047308;2047310;2047312;2047314;2047316;2047318;2047320;2047322;2047324;2047326;2047328;2047330;2047332;2047334;2047336;2047338;2047340;2047342;2047344;2047346;2047348;2047350;2047352;2047354;2047356;2047358;2047360;2047362;2047364;2047366;2047368;2047370;2047372;2047374;2047376;2047378;2047380;2047382;2047384;2047386;2047388;2047390;2047392;2047394;2047396;2047398;2047400;2047402;2047404;2047406;2047408;2047410;2047412;2047414;2047416;2047418;2047420;2047422;2047424;2047426;2047428;2047430;2047432;2047434;2047436;2047438;2047440;2047442;2047444;2047446;2047448;2047450;2047452;2047454;2104374;2104376;2104378;2104380;2104382;2104384;2104386;2104388;2104390;2104392;2104394;2104396;2104398;2104400;2104402;2104404;2104406;2104408;2104410;2104412;2104414;2104416;2104418;2104420;2104422;2104424;2104426;2104428;2104430;2104432;2104434;2104436;2104438;2159458;2169623;2182018 D16S3399;ECD00414;ECD00643;ECD03214;ECD03565;ECD03566;ECD03639;ECD03743;ECD04016;ECD04125;ECD04439;ECD04751;ECD05692;ECD06857;ECD07129;ECD07193;ECD07383;ECD07791;ECD08099;ECD08458;ECD08650;ECD08943;ECD09187;ECD09789;ECD10353;ECD11469;ECD12573;ECD13458;ECD13865;ECD14190;ECD15465;ECD15741;ECD16229;ECD16584;ECD17101;ECD18322;ECD18921;ECD19517;ECD19544;ECD19921;ECD19922;ECD20356;ECD20489;ECD20552;ECD20809;ECD21519;ECD21673;ECD21945;ECD22606;G29196;G66703;G66706;GDB:229313;PMC110816P1;REN94633;REN94634;REN94635;REN94636;REN94637;REN94638;REN94639;REN94640;REN94641;REN94642;REN94643;REN94644;REN94645;REN94646;REN94647;REN94648;REN94649;REN94650;REN94651;REN94652;REN94653;REN94654;REN94655;REN94656;REN94657;REN94658;REN94659;REN94660;REN94661;REN94662;REN94663;REN94664;REN94665;REN94666;REN94667;REN94668;REN94669;REN94670;REN94671;REN94672;REN94673;REN94674;REN94675;REN94676;REN94677;REN94678;REN94679;REN94680;REN94681;REN94682;REN94683;REN94684;REN94685;REN94686;REN94687;REN94688;REN94689;REN94690;REN94691;REN94692;REN94693;REN94694;REN94695;REN94696;REN94697;REN94698;REN94699;REN94700;REN94701;REN94702;REN94703;REN94704;REN94705;REN94706;REN94707;REN94708;REN94709;REN94710;REN94711;REN94712;REN94713;REN94714;REN94715;REN94716;REN94717;REN94718;REN94719;REN94720;REN94721;REN94722;REN94723;REN94724;REN94725;REN94726;REN94727;REN94728;REN94729;REN94730;REN94731;REN94732;REN94733;REN94734;REN94735;REN94736;REN94737;REN94738;REN94739;REN94740;REN94741;REN94742;REN94743;REN94744;REN94745;REN94746;REN94747;REN94748;REN94749;REN94750;REN94751;REN94752;REN94753;REN94754;REN94755;REN94756;REN94757;REN94758;REN94759;REN94760;REN94761;REN94762;REN94763;REN94764;REN94765;REN94766;REN94767;REN94768;REN94769;REN94770;REN94771;REN94772;REN94773;REN94774;REN94775;REN94776;REN94777;REN94778;REN94779;REN94780;REN94781;REN94782;REN94783;REN94784;REN94785;REN94786;REN94787;REN94788;REN94789;REN94790;REN94791;REN94792;REN94793;REN94794;REN94795;REN94798;REN94799;REN94800;REN94801;REN94802;REN94803;REN94804;REN94805;REN94806;REN94807;REN94808;REN94809;REN94810;REN94811;REN94812;REN94813;REN94814;REN94815;REN94816;REN94817;REN94818;REN94819;REN94820;REN94821;REN94822;REN94823;REN94824;REN94825;REN94826;REN94827;REN94828;REN94829;REN94830;REN94831;REN94832;REN94833;REN94834;REN94835;REN94836;REN94837;REN94838;REN94839;REN94840;REN94841;REN94842;REN94843;REN94844;REN94845;REN94846;REN94847;REN94848;REN94849;REN94850;REN94851;REN94852;REN94853;REN94854;REN94855;REN94856;REN94857;REN94858;REN94859;RH45665;RH78394;SHGC-30625;SHGC-60793;stSG608856;stSG608857;stSG608858;stSG608859;stSG608860;stSG608861;stSG608862;stSG608863;stSG608864;stSG608865;stSG608866;stSG608867;stSG608868;stSG608869;stSG608870;stSG608871;stSG608873;stSG608875;stSG608876;stSG608878;stSG608879;stSG608880;stSG608881;stSG608882;stSG608883;stSG608884;stSG608885;stSG608886;stSG608891;stSG608892;stSG608893;stSG608894;stSG608895 C16orf35;CGTHBA;HS-40;MARE;NPR3;RMD11 -14 gene protein;OTTHUMP00000067190;OTTHUMP00000197538;alpha-globin regulatory element-containing gene protein;conserved gene telomeric to alpha globin cluster;nitrogen permease regulator 3-like protein APPROVED protein-coding ENSG00000103148 HGNC:14124 11866 600928 REVIEWED 1318978 NPRL2 nitrogen permease regulator-like 2 (S. cerevisiae) ENCODES a protein that exhibits protein kinase activity; INVOLVED IN negative regulation of kinase activity; protein phosphorylation; INTERACTS WITH 5-aza-2'-deoxycytidine; amphotericin B; cisplatin 3 3 3 p21.3 50357750 50361317 - 50384918 50388486 - 50347487 50351055 - 737633;1580863;6480464 12477932 11085536;11980673;14702039;15374952;15489334;16641997;17018626;17353931;18029348;18616680;19140316;19274676;19521502;20154027;20193080;21822266;21900206;21906983;21963094;22939624;23079973;23321467;25015289 10641 F2Z2R8;F2Z3D4;Q8WTW4 ABBA01024549;AC002481;AF040707;AF040708;AK098161;AK292196;AK309658;AL833426;AMYH02006769;BC008802;BC021984;BC050412;BC056861;BC063030;CH471055;CR542035;NM_006545;XM_005264806;XM_005264808;XM_006712937 AAB67310;AAC62535;AAC62536;AAH21984;AAH56861;BAF84885;CAG46832;EAW65106;EAW65107;EAW65108;EAW65109;EAW65110;EAW65111;EAW65112;NP_006536;Q8WTW4;XP_005264863;XP_005264865;XP_006713000 Hs.437083 2164559 RH12450 NPR2;NPR2L;TUSC4 2810446G01Rik;G21 protein;NPR2-like protein;OTTHUMP00000210836;gene 21 protein;homologous to yeast nitrogen permease (candidate tumor suppressor);nitrogen permease regulator 2-like protein;tumor suppressor candidate 4 APPROVED protein-coding ENSG00000114388 HGNC:24969 06147 607072 VALIDATED 1607068 NPTXR neuronal pentraxin receptor This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23021120 23046674 - 39214456 39240017 - 38818451 38844012 - 1642301;1642302;6480464;8554872 12242102;16497176 10591208;10748068;12477932;16115696;16344560;18029348;19368810;20379614;8619474;9110174;9261167 23467 O95502 ABBA01055538;ABBA01055539;AF052163;AL008583;AL161974;AL162057;AMYH02038367;BC043606;CA423268;CH471095;DA321562;DR007138;NM_014293 AAI48602;AAI53028;EAW60273;EAW60274;EAW60275;NP_055108;O95502 Hs.91622 1658663;1678527;1679155;1689893;1731871;2117997;2118433;2121146;2122210;2187319;5118444;7187811 2028;D11S3316;D22S285E;D22S286E;IB342;RH93419;STS-M79042;STS-R45141;UniSTS:148579;WI-19878;WI-5819 NPR OTTHUMP00000197414 APPROVED protein-coding ENSG00000221890 HGNC:7954 14837 609474 REVIEWED 1348310 NPY2R neuropeptide Y receptor Y2 ENCODES a protein that exhibits calcium channel regulator activity (inferred); neuropeptide Y receptor activity (inferred); peptide YY receptor activity (inferred); INVOLVED IN cardiac left ventricle morphogenesis; outflow tract morphogenesis; ASSOCIATED WITH Epilepsy, Temporal Lobe; Obesity; Obesity, Morbid; FOUND IN integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH all-trans-retinoic acid; methylmercury chloride; paracetamol 4 4 4 q31 153460186 153468632 + 156094924 156138248 + 155173772 155217078 + 1580863;1580787;1642609;1642379;1642381;6480464;8554872 15337376;15342191;15855352;17019604 11408607;11906964;12007534;12084524;12477932;12813010;1321422;15331560;15489334;15623622;16331299;16891622;17235527;17325259;17948870;17992642;18029348;18569526;18577758;18622237;18700141;18828811;19058789;19086053;19481128;19593212;19759915;19874574;19913121;19953226;19957593;20359722;20421142;20468064;20471432;20543711;20628086;20642810;20676138;20811389;20959467;21295110;21352822;21696823;21745157;21818152;21999704;22487268;22629465;22732667;23020974;23149563;24121255;24365162;2834384;7559383;7592910;8132547;8632753;8643460;8975716;9001438;9651375;9692752 4887 P49146 ABBA01070163;AC104407;AMYH02010340;AY236540;BC075052;BC075053;CH471056;NM_000910;U32500;U36269;U42389;U42766;U50146;U76254;XM_005263033;XM_005263034 AAA93170;AAB04120;AAB07760;AAC50281;AAC51115;AAD00248;AAH75052;AAH75053;AAO92062;AAY40940;EAX04901;NP_000901;P49146;XP_005263090;XP_005263091 Hs.37125 1776006;1792748;1797906;2143716;5492753 NPY2R_958.2;PMC161419P2;SHGC-35647;STS-U42766;UniSTS:482294 NPY2-R NPY-Y2 receptor;OTTHUMP00000220313;OTTHUMP00000220314;Y2 receptor;neuropeptide Y receptor type 2 1643249;1643467;2289563 BW100_H;BW135_H;BW441_H protein-coding ENSG00000185149 HGNC:7957 01216 162642 PROVISIONAL 1605830 NPW neuropeptide W The product of this gene is processed into 23- and 30-amino acid neuropeptides that bind and activate two G-protein coupled receptors in the central nervous system. The neuropeptides have been shown to enhance cortisol secretion from adrenal cells through the adenylate cyclase/protein kinase A signaling cascade. The preproprotein is translated using a non-AUG initiation codon that is inferred from analyses of the mouse ortholog. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2281696 2282931 + 2069521 2070756 + 2019520 2020755 + 6480464 12118011;12130646;12401809;12477932;12719537;12959997;15797961;16273281;16394174;16847439;18240029;18577758;22826747;2834384;8889548 283869 H3BT17;H3BT42;Q8N729 AB084276;ABBA01030280;AC005606;AC093513;AL365519;AL365521;AMYH02031241;BC150534;BM985063;CK817957;NM_001099456 AAI50535;AAI60149;BAC07172;NP_001092926;Q8N729 Hs.233533 L8;L8C;PPL8;PPNPW;hPPL8 prepro-neuropeptide W;preproprotein L8 APPROVED protein-coding ENSG00000183971 HGNC:30509 607997 REVIEWED 733531 NPTN neuroplastin This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009] 15 15 15 q22 50730984 50804846 - 73852344 73925753 - 73560003 73633412 - 6480464 12477932;15146197;15340161;15489334;17123723;17196182;17500595;19581412;21139048;21900206;21906983;21963094;22268729;22939629;8619474;8995369;9110174 27020 H3BQ94;H3BU51;Q9UFM8;Q9Y639 AB209812;ABBA01038709;AC022735;AF035287;AF109126;AF109127;AI357728;AK129908;AK297184;AK304478;AK313441;AK314248;AL117411;AMYH02030773;BC030773;BC067828;BC105979;BC117462;BC143880;BC143881;CH471082;CN357076;CR936779;NM_001161363;NM_001161364;NM_012428;NM_017455;XM_005254304;XR_429449 AAB88179;AAD43217;AAD43218;AAI05980;AAI17463;AAI43881;AAI43882;ADR82893;BAD93049;BAG36914;BAH12519;BAH14196;CAB55909;EAW77930;EAW77931;EAW77932;NP_001154835;NP_001154836;NP_036560;NP_059429;Q9Y639;XP_005254361 Hs.744867 1646055;1670614;1696964;1782026;2121709;2140631;2149242;2157144;2161325;2173185;2176182;5022578;5491585 D15S1086;D15S1291;D15S904;D1S1423;G31039;MARC_21804-21805:1025095690:1;RH101954;RH46305;SHGC-149501;SHGC-24300;STS-H81048;WI-11717;WI-14402 DKFZp686L2477;GP55;GP65;MGC102805;SDFR1;SDR-1;SDR1;np55;np65 OTTHUMP00000174915;OTTHUMP00000174916;stromal cell derived factor receptor 1;stromal cell-derived receptor 1 APPROVED protein-coding ENSG00000156642 HGNC:17867 18033 612820 REVIEWED 1345559 NPY6R neuropeptide Y receptor Y6 (pseudogene) FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenous acid; cyclosporin A; diarsenic trioxide 5 5 5 q31.2 133259175 133268733 + 137136882 137146440 + 137801193 137810751 + 1580863;6480464 11027673;8910290;8910373;9013614 4888 Q99463 ABBA01068702;AC106791;AK297855;AK299427;AMYH02012277;CH471062;D86519;DC357138;NR_002713;U59431;U67780 AAB19187;BAA13103;BAG60187;BAG61407;EAW62180;EAW62181;Q99463 Hs.643466 1794044;1794046;1794834 PMC310777P10;PMC310777P11;PMC60063P2 FLJ52676;FLJ53561;NPY1RL;NPY6RP;PP2;Y2B pseudo ENSG00000226306 HGNC:7959 601770 VALIDATED 1347163 NPY1R neuropeptide Y receptor Y1 This gene belongs to the G-protein-coupled receptor superfamily. The encoded transmembrane protein mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a gastrointestinal hormone. The encoded receptor undergoes fast agonist-induced internalization through clathrin-coated pits and is subsequently recycled back to the cell membrane. Activation of Y1 receptors may result in mobilization of intracellular calcium and inhibition of adenylate cyclase activity. [provided by RefSeq, Aug 2013] 4 4 4 q31.3-q32 161577336 161585966 - 164245116 164265984 - 163323964 163344832 - 1580863;1357410;1642322;1642324;1642306;1642307;1642319;1642311;1642320;1642609;6480464 10320723;10521595;10891620;15337376;15699473;16728491;17562528;17700210;9861026 11741903;11814622;11906964;12007534;12084524;12203398;12209475;12220433;12477932;12665544;1317848;1321422;14741323;15090072;15231747;15302312;15489334;15597110;15623622;16339211;16344560;16399808;16532386;16891622;17140570;17325259;17948870;18577758;18698022;18812316;18828811;18953866;19058789;19077438;19481128;19506390;19566775;19593212;19699258;19712806;19759915;19874574;19913121;20042335;20358617;20468064;20471432;20532202;20628086;20797317;20837140;20975297;21295110;21512575;21971867;22029806;22072432;22309839;22487268;22626516;22645275;23838112;2834384;7559383;8095935;9001438;9169155 4886 B4DKL9;D6R9D0;D6RC44;D6REY0;D6RHH6;D6RI97;P25929 A26126;A26481;AB209237;ABBA01070269;ABBA01070270;AC079238;AK296624;AK298282;AK312578;AMYH02010415;AY548168;BC036657;BC071720;CH471056;DA531980;HC025806;L07614;L07615;M84755;M88461;NM_000909;X99269;XM_005263031;XM_005263032 AAA59920;AAA59947;AAA73215;AAH36657;AAH71720;AAS55647;ABM82191;ABM85379;BAD92474;BAG35472;BAG59231;BAG60542;CAA01787;CAA01819;CBH19834;EAX04841;NP_000900;P25929;XP_005263088;XP_005263089 Hs.519057;Hs.733329 1648852;1797904;2113778;2140582;2145501 NPY1R;NPY1R_956;SHGC-12458;SHGC-59526;SHGC-67951 NPY1-R;NPYR OTTHUMP00000220111;OTTHUMP00000220115;neuropeptide Y receptor type 1 1643249;2289563 BW135_H;BW441_H APPROVED protein-coding ENSG00000164128 HGNC:7956 01215 162641 VALIDATED 1350844 NR0B1 nuclear receptor subfamily 0, group B, member 1 This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008] X X X p21.3 34444104 34449076 - 30322539 30327495 - 30304422 30309378 - 1580863;6480464;7240710;8554872;8699517 10323730;10341858;10361383;10412368;10522996;10599709;10675358;10713076;10848616;11053406;11113848;11443184;11459805;11549627;11713202;11738790;11748852;11788621;11875111;12034880;12083815;12213854;12213901;12477932;12482977;12519885;12629128;12636049;12727988;12771131;12843196;1301166;14963109;15044589;1505987;15084237;15100213;15379426;15464421;15489334;15589120;15604093;15800903;15841486;15879363;15988384;16146703;16206264;16232195;16275267;16645015;16684822;16709599;16713569;16834661;17114343;17308433;17573657;17646707;17686645;18038713;18160712;18202527;18381063;18417736;18591936;18819054;18824868;18827407;18941128;18984668;19015525;19129717;19188450;19199243;19237537;19384854;19508677;19528230;19644015;19651776;19672728;19726747;19773398;19920188;20080977;20301604;20301714;20573681;21029627;21164257;21227944;21270512;21378322;21632081;21672607;21739173;21775412;21856289;22456342;22749036;22761912;22768659;22843091;22896671;23018754;23378245;23512386;23585174;23824603;23846226;24104199;6891556;7677767;7951319;7990953;7990958;8593542;8636263;8675564;8855822;9003500;9063431;9360549;9384387;9415399;9486644;9529340 190 A6NNU8;F1D8P4;P51843 ABBA01072924;AC005185;AC005926;AMYH02039109;AW612655;BC011564;BI772108;CH471074;HQ692832;NG_009814;NM_000475;S74720;S79548;U31929 AAB32751;AAC13875;AAD14311;AAH11564;ADZ17343;EAW99051;NP_000466;P51843 Hs.268490 1678625;1702092;1744741;1744743;1797910;5022796 GDB:555626;GDB:555633;GDB:555638;NR0B1;NR0B1_2627;RH80290 AHC;AHCH;AHX;DAX-1;DAX1;DSS;GTD;HHG;NROB1;SRXY2 DSS-AHC critical region on the X chromosome protein 1;OTTHUMP00000023102;nuclear hormone receptor;nuclear receptor DAX-1;nuclear receptor DAX1;nuclear receptor subfamily 0 group B member 1 APPROVED protein-coding HGNC:7960 08362 300018;300200;300473 REVIEWED 730830 NPY neuropeptide Y This gene encodes a neuropeptide that is widely expressed in the central nervous system and influences many physiological processes, including cortical excitability, stress response, food intake, circadian rhythms, and cardiovascular function. The neuropeptide functions through G protein-coupled receptors to inhibit adenylyl cyclase, activate mitogen-activated protein kinase (MAPK), regulate intracellular calcium levels, and activate potassium channels. A polymorphism in this gene resulting in a change of leucine 7 to proline in the signal peptide is associated with elevated cholesterol levels, higher alcohol consumption, and may be a risk factor for various metabolic and cardiovascular diseases. [provided by RefSeq, Nov 2009] 7 7 7 p15.1 24312617 24320302 + 24323807 24331484 + 24284188 24291865 + 1580177;1580179;1580182;1580183;1580184;1580178;1357412;1358535;1580863;1357410;6480464;6480264;7175103;7175091 11689216;14757324;15068713;15364898;15699473;15749341;15800380;15926114;16046456;17804485;20543711;22328461 10488139;10557353;10561544;10698177;10770181;11196643;11278902;11325787;11410744;11422604;11696660;11814620;11884208;11914038;11932939;12007534;12015205;12034130;12081635;12106685;12187394;12187924;12209475;12215082;12454738;12477932;12479530;12544000;12609745;12646110;12663466;12689610;12690205;12759898;12782203;12818415;12843176;12853948;12875921;12878188;12932169;1321422;1425680;14628185;14747236;14751436;15126561;15165988;15201542;15336593;15485137;15489334;15597110;15604093;15625769;15680469;15736042;15759545;15797951;15847953;15850450;15894681;15897713;15959845;16135994;16136022;16339211;16382997;16382999;16383000;16383001;16383009;16383010;16390370;16459651;16500360;16568137;16785149;16912140;17066479;17154253;17187020;17268419;17305733;17325259;17366345;17516289;17525122;17554476;17695723;17702963;17948870;17984244;18031993;18037100;18043699;18054939;18055304;18211417;18241322;18257117;18279562;18385673;18420205;18423883;18461271;18499283;18577758;18636124;18641693;18715275;18815063;18828811;18974842;18996102;19056482;19058789;19086053;19119412;19150389;19240061;19245788;19264362;19289742;19309436;19367093;19404163;19423065;19491387;19566775;19587357;19619519;19620246;19699258;19804960;19846279;19854625;19865784;19874574;19913121;19913525;19942238;20033074;20037921;20138117;20164781;20173430;20180986;20308990;20351714;20435026;20452482;20453000;20459474;20468064;20531438;20554694;20602615;20628086;20648632;20673868;20675276;20676138;20691708;20734064;20823688;20832114;20945961;21041608;21047193;21145602;21190576;21273004;21303710;21346312;21396710;21426768;21468772;21626172;21640760;21746772;21796371;21849543;21898706;21917383;21937627;21988832;22143932;22289186;22308535;22393040;22492775;22584873;22632858;22808091;22849656;22941950;22966009;22979996;22985695;23021333;23074243;23083763;23107365;23110814;23116540;23122776;23277265;23390522;23403409;23407263;23457218;23459936;23468908;23599389;23624317;23652383;23831408;23838112;23864142;23994577;24012636;24077326;24121255;24184719;2427515;24289328;2444979;24699455;3753985;3839058;6589611;7493937;7559383;7782078;8132547;8421707;9001438;9008359;9067840;9845072 4852 A4D158;P01303 ABBA01056720;AC004485;AI198311;AK312156;AMYH02015375;BC029497;CH236948;CH471073;K01911;M14295;M14296;M14297;M14298;M15789;NG_016148;NM_000905 AAA59944;AAA59945;AAA59946;AAH29497;AAQ96843;ABM84261;ABM87650;BAG35090;EAL24248;EAW93807;NP_000896;P01303 Hs.1832 2124200;2156516 NPY;STS-M14298 PYY4 OTTHUMP00000122447;OTTHUMP00000201946;OTTHUMP00000201947;prepro-neuropeptide Y;pro-neuropeptide Y 1643507;2289312;2289453 BW292_H;BW297_H;BW391_H APPROVED protein-coding ENSG00000122585 HGNC:7955 01214 162640 REVIEWED 731586 NPY5R neuropeptide Y receptor Y5 ENCODES a protein that exhibits neuropeptide Y receptor activity (inferred); pancreatic polypeptide receptor activity (inferred); peptide YY receptor activity (inferred); INVOLVED IN cardiac left ventricle morphogenesis; outflow tract morphogenesis; ASSOCIATED WITH Lipid Metabolism, Inborn Errors; Obesity; Coronary Restenosis (ortholog); FOUND IN cytoplasm (inferred); integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-naphthylamine 4 4 4 q31-q32 161597299 161605294 + 164265062 164273540 + 163343910 163352388 + 729324;1625494;1625501;1625503;1580863;1625506;1331525;1625492;1625493;1625496;6480464;8554872 10849579;11026575;12161018;12417430;12689918;15118671;15187000;17426313;9212103 10575027;12007534;12220433;12398768;12477932;12665544;15302312;15601626;16891622;17325259;17948870;18577758;18828811;19058789;19077438;19086053;19481128;19593212;19759915;19874574;20332211;20468064;20602615;20797317;21988832;23932937;2834384;8700207;8824284;9169127;9417917 4889 Q15761 ABBA01070270;AC079238;AMYH02010415;AMYH02010416;AY322538;BC034224;BC042416;CH471056;NM_006174;U56079;U66275;U94320;XM_005263036;XM_005263037;XM_005263038;XM_005263039 AAC50623;AAC50741;AAC51295;AAH42416;AAP84351;EAX04839;EAX04840;NP_006165;Q15761;XP_005263093;XP_005263094;XP_005263095;XP_005263096 Hs.519058;Hs.598503 1794074;1794076;1796420 NPY5R_960;PMC310777P8;PMC310777P9 NPY5-R;NPYR5;NPYY5-R NPY-Y5 receptor;OTTHUMP00000220088;OTTHUMP00000220089;OTTHUMP00000220109;Y5 receptor;neuropeptide Y receptor type 5 1643249;2289563 BW135_H;BW441_H protein-coding ENSG00000164129 HGNC:7958 03591 602001 PROVISIONAL 1351629 NQO2 NAD(P)H dehydrogenase, quinone 2 This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihydronicotinamide riboside as a reducing coenzyme. Mutations in this gene have been associated with neurodegenerative diseases and several cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 6 6 6 p25.2 4229080 4249008 + 3000067 3019997 + 2999833 3019763 + 1580863;6480464;7240710 10433694;10471077;11051261;11688992;11809856;12477932;12960511;14617031;14639047;14702039;15078100;15350128;15451063;15489334;15694256;15993843;16025450;16129418;16189514;16191666;16545679;1691923;17332305;17545619;18029348;18254726;18314446;18336668;18502195;18538895;18579530;18781797;18826489;19056867;19343046;19350405;19351655;19495956;19671875;20050988;20301425;20379614;20966810;21145461;21294640;21351093;21555518;21718050;21803122;21890473;21906983;21946896;21963094;22266466;22623531;22770696;22939629;23054000;23471972;24631540;24654937;24722188;24816145;2843525;8182056;9050836;9367528 4835 A2A2U4;B3KPX6;P16083;Q5TD05;Q5TD07;U3KQG7 AB050248;ABBA01048622;AK056981;AK097187;AK311746;AL133351;AMYH02012990;AMYH02012991;AY299456;AY855291;BC006096;BI670476;CD014013;CH471087;CS185539;J02888;NG_034013;NM_000904;NM_001290221;NM_001290222;XM_005249147;XM_005249148;XM_005249149;XM_005249150;XM_005249151;XM_005249152;XM_006715100;XM_006715101 AAA60239;AAB60642;AAH06096;AAW29945;BAB16974;BAG34689;BAG51838;CAJ42720;EAW55107;EAW55108;EAW55109;EAW55110;EAW55111;NP_000895;NP_001277150;NP_001277151;P16083;XP_005249204;XP_005249205;XP_005249206;XP_005249207;XP_005249208;XP_005249209;XP_006715163;XP_006715164 Hs.145597;Hs.533050 1651739;1670527;1673453;1679056;1725613;5037552 D8S2279;G62093;RH94182;SHGC-30249;SHGC-57006;STS-J02888 DHQV;DIA6;FLJ39868;NMOR2;QR2 NAD(P)H menadione oxidoreductase 2, dioxin-inducible;NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2;NRH dehydrogenase [quinone] 2;NRH:quinone oxidoreductase 2;OTTHUMP00000015948;OTTHUMP00000015949;OTTHUMP00000015950;OTTHUMP00000015951;OTTHUMP00000015952;OTTHUMP00000015953;OTTHUMP00000163078;quinone reductase 2;ribosyldihydronicotinamide dehydrogenase;ribosyldihydronicotinamide dehydrogenase [quinone] APPROVED protein-coding ENSG00000124588 HGNC:7856 01190 114480;160998 REVIEWED 731662 NPY4R neuropeptide Y receptor Y4 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); pancreatic polypeptide receptor activity (inferred); peptide binding (inferred); INVOLVED IN blood circulation (inferred); digestion (inferred); feeding behavior (inferred); FOUND IN integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH ammonium chloride (ortholog); benzo[a]pyrene (ortholog); dexamethasone (ortholog) 10 10 10 q11.2 1 2768 - 47083534 47088320 + 46461099 46465881 - 1580863;6480464 11739470;11825645;11906964;11975932;12007534;12477932;15489334;18577758;18826257;19229253;19481128;20379614;21745157;22947943;24375409;2834384;7493937;7592911;8643460;9417917;9441761 5540 P50391;Q4KKW2 AC244230;AL390716;AY268432;AY649985;AY649986;BC096238;BC099637;CQ793781;CR541950;GM881488;GM889549;NM_001278794;NM_005972;U35232;U42387;Z66526 AAB07759;AAC50280;AAH96238;AAH99637;AAP23199;AAV68196;AAV68197;CAA91433;CAG26290;CAG46748;CAI13318;CAV09711;CAV28326;NP_001265723;NP_005963;P50391 Hs.524719 1688759;1794832;5492817;5494015 PMC60063P1;RH70629;UniSTS:480728;UniSTS:482797 MGC116897;NPY4-R;PP1;PPYR1;Y4 OTTHUMP00000019520;neuropeptide Y receptor type 4;pancreatic polypeptide receptor 1 2289527 BW436_H APPROVED protein-coding ENSG00000204174 HGNC:9329 03476 601790 VALIDATED 732873 NR0B2 nuclear receptor subfamily 0, group B, member 2 The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008] 1 1 1 p36.1 25635071 25637663 - 27237975 27240567 - 26911484 26914076 - 1600912;1580863;2311606;2311604;6480464;6907045;7240710;8699517;8554872 11136233;17259388;18781616 10594021;10648597;11030331;11668176;11696534;11705994;11735420;11861507;11890664;11964378;12181644;12198243;12324453;12477932;12716764;12716767;12842887;14593077;14627819;14672953;14752053;14762685;14963109;15123650;15202934;15269224;15292277;15314177;15317749;15358835;15459958;15489334;15604093;15707893;15723037;15835920;15973435;16123152;16282330;16344560;16488887;16709599;16710414;16762922;16825495;17071613;17074765;17094771;17145766;17210713;17289919;17522048;17646707;17686645;17895379;17909097;17910058;18187620;18234786;18276794;18307978;18325392;18385139;18459945;18657049;18660489;18775915;18842595;19237537;19322021;19366697;19372104;19491387;19509248;19594294;19641626;19720831;19793803;19793822;20175750;20211142;20233523;20346360;20375098;20516075;20734064;20853064;20882396;21262773;21459093;21566081;21725089;21725320;21988832;22171277;22197810;22292081;22314666;22362755;22575647;22737255;22977252;23010719;23038264;23042943;23824184;23874642;24097068;24318876;24343129;24365583;24379397;8650544;9603951;9773978 8431 Q15466 AA872285;AB058644;ABBA01034934;AF044316;AI457167;AK310048;AL356390;AMYH02000581;BC030207;CH471059;DA930064;HQ692833;L76571;NG_012143;NM_021969 AAC41998;AAH30207;ADZ17344;BAB68530;EAX07781;NP_068804;Q15466 Hs.427055 1646339;1677748;1681235;5022578 D1S1423;D1S3511;RH79895;RH93759 FLJ17090;SHP;SHP1 OTTHUMP00000004414;nuclear receptor SHP;nuclear receptor subfamily 0 group B member 2;orphan nuclear receptor SHP;small heterodimer partner 2289443;2289613 BW396_H;BW413_H APPROVED protein-coding ENSG00000131910 HGNC:7961 05219 601665;604630 REVIEWED 731848 NR1D1 nuclear receptor subfamily 1, group D, member 1 This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013] 17 17 17 q11.2 34909147 34917084 - 38249037 38256978 - 40092784 40100725 - 1580863;6480464;8554872 11669620;12021280;12114512;12377782;12454280;12477932;12683943;12821652;14684825;15013753;15190009;15302935;15489334;15604093;15761026;16219912;16484495;17075855;17892483;18006707;18037887;18227153;18228528;1850510;18511497;18804497;19267705;19693801;19696364;19710360;1971514;19818381;19839995;19913121;20072116;20160030;20174623;20348464;20396431;20534529;20581824;20628086;20817722;21479263;21738480;21832049;21906983;22024429;22224817;22538398;23083441;23398316;23449984;24250222;24311788;24497272;24722188;2539258;8622974;8889548;8948627;9405624;9482666;9660968 9572 F1D8S3;P20393 ABBA01031845;AC068669;AK300155;AK315270;AMYH02033392;AY429554;BC047875;BC056148;BM671861;CH471152;HQ692861;M24898;M24900;M34339;M34340;NG_033084;NM_021724;X72631;X95536 AAA36561;AAA36562;AAA52332;AAA52335;AAH47875;AAH56148;ADZ17372;BAG61939;CAB53540;EAW60636;NP_068370;P20393 Hs.592130;Hs.724 1730331;1763271;1780412;1797912;1798274;2117650;2180246;2191711;5016614 AW259572;D10S2160;D17S1644E;MARC_5497-5498:996690469:1;NR1D1_2626;RH110;RH125185;SHGC-146999;THRA_2263 EAR1;THRA1;THRAL;ear-1;hRev OTTHUMP00000164452;Rev-ErbAalpha;V-erbA-related protein 1;nuclear receptor Rev-ErbA-alpha;nuclear receptor subfamily 1 group D member 1;rev-erbA-alpha;thyroid hormone receptor, alpha-like protein-coding ENSG00000126368 HGNC:7962 03873 602408 REVIEWED 735868 NQO1 NAD(P)H dehydrogenase, quinone 1 This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 54257766 54274991 - 69743304 69760849 - 69709401 69726668 - 727509;1580863;1300048;2301044;5134971;5134973;5135005;5134963;5135003;5133254;5133268;5134962;5133267;5133239;5135006;5133246;5133265;5134987;5134980;5133247;5133235;5133249;6480464 11679176;12603827;14991562;15781212;17619904;17721935;18556627;18559366;18787991;18798003;19017358;19027876;19424637;19591959;19596483;19705749;20734248;21120604;21259333;21479364 10393963;10447260;10487530;10543876;10706635;11051261;11219774;11319169;11520401;11551408;11688992;11701227;11722480;11766168;11773862;11774269;11810042;11821413;11840286;11888914;11894133;11895912;11943609;11948402;11956078;11967624;12018106;12036913;12037698;12163326;12164325;12171070;12171760;12172217;12232053;12370194;12383707;12393447;12393620;12397416;12417987;12419832;12439220;12460800;12468438;12477932;12480594;12529318;12694753;12711112;12713578;12718576;12718704;12771035;12777965;12834817;12854127;12867492;12960511;13130177;1340765;14506737;14568289;14592434;14634213;14634838;14669229;14675732;14688016;14694720;14716779;14720419;14729580;14985350;15028279;15061915;15079792;15111988;15116053;15138483;15151706;15184245;15196853;15219943;15226677;15279067;15280903;15298951;15312971;15334552;15352038;15355699;15365958;15370874;15382274;15385560;15466980;15489334;15498787;15590400;15618957;15640066;15661231;15694256;15714076;15727169;15731166;15734732;15746160;15747169;15748501;15749015;15763338;15767364;15808404;15829318;15838728;15938845;16003741;16006997;16038261;16039674;16054862;16079101;16157195;16170238;16172237;16235982;16235998;16266898;16284498;16297214;16321221;16341674;16343742;16369108;16385446;16413497;16520888;16532285;1657151;16595077;16598069;16610002;16620556;16702380;16775388;16818284;16978807;16985026;17011189;17027152;17082176;17113562;17118447;17119198;17164365;17166422;17178637;17179690;17188257;17332305;17332311;17337051;17363580;17367411;17372252;1737339;17378176;17395013;17400324;17405841;17424838;17428572;17449559;17469025;17476281;17496311;17507624;17541156;17575500;17581325;17603928;17644186;17652311;17669387;17726138;17869325;17885617;17901563;18024413;18029348;18034618;18061666;18061941;18074351;18091324;18098117;18156703;18203021;18214807;18218609;18225579;18253865;18388957;18393254;18404535;18407955;18413200;18416817;18444152;18444911;18457324;18510611;18511948;18569591;18587252;18601742;18632753;18636124;18676018;18676680;18720901;18784359;18813798;18820947;18836923;18936436;18945694;18950733;18977034;18981090;18986377;18992148;19012493;19012698;19027952;19059883;19074885;19096102;19138946;19151739;19162321;19170196;19174490;19179423;19214744;19229058;19251446;19330589;19336370;19339270;19360290;19362588;19382518;19415745;19456854;19494791;19549356;19593802;19625176;19628038;19651439;19652895;19657853;19661089;19671875;19688691;19692168;19715479;19736056;19738201;19759547;19778569;19789190;19808663;19822020;19899130;19913121;19952119;20026093;20027111;20028737;20049130;20049212;20056632;20085630;20091863;20100551;20110814;20193673;20194081;20198579;20200430;20204281;20214802;20226854;20331656;20371868;20373852;20375710;20391128;20437850;20453000;20461808;20480521;20480816;20511665;20526719;20526805;20534171;20568895;20593958;20599494;20613985;20628086;20634891;20663217;20701904;2071140;20819778;20824655;20851451;20878130;20935060;20951227;20962519;20966810;21041608;21073132;21117316;21133623;21139048;21176850;21211285;21220432;21253823;21294640;21329464;21351093;21480392;21502369;21518531;21524888;21531452;21577322;21602889;21605663;21706157;21718050;21755707;21756955;21800014;21861350;21906983;21946896;21963094;21964527;21989715;22016051;22017531;22021338;22116627;22215148;22249251;22272361;22306249;22387672;22393995;22483869;22586705;22623428;22736108;22770696;22793692;22853296;22911602;22925602;22939629;22960073;22972504;22976839;22984577;23000965;23054000;23065291;23066387;23066397;23086932;23110137;23215885;23249637;23275341;23276910;23360829;23390006;23458878;23464456;23468244;23497461;23643325;23648480;23651475;23725139;23749485;23803694;23824909;23840148;23852860;23860519;23873104;23874855;23883585;23893397;23897704;23918565;24035474;24053646;24140708;24142528;24142529;24175818;24213850;24315573;24384455;24452687;24460787;24474393;24488035;24499631;24654937;24676794;24733848;2843525;8125298;9230185;9579781 1728 B4DLR8;H3BNV2;H3BRK3;P15559 ABBA01025538;AC092115;AK223050;AK297125;AK297979;AK298896;AK307533;AK309513;AK312368;AK316246;AMYH02032288;AV729122;AY281093;BC000906;BC007659;BC107739;BE903613;BM052991;BM452267;BM787983;BM828301;BQ775231;CD014005;CH471092;DC331440;HH961748;HI573928;HI573930;HI573932;J03934;M81600;NG_011504;NM_000903;NM_001025433;NM_001025434;NM_001286137 AAA59940;AAB60701;AAH07659;AAI07740;AAP20940;ABM83818;ABM87138;BAD96770;BAG35286;BAG59630;BAG60289;BAG61007;BAH14617;CBX47453;CBX47454;CBX47455;CBX51347;EAW83282;EAW83283;EAW83284;NP_000894;NP_001020604;NP_001020605;NP_001273066;P15559 Hs.406515 1741355;1797158;1797908;2120287;2161681;5037552 D8S2279;GDB:180917;NQO1;NQO1_2205;RH68871;SHGC-31516 DHQU;DIA4;DTD;NMOR1;QR1 DT-diaphorase;NAD(P)H dehydrogenase [quinone] 1;NAD(P)H:Quinone acceptor oxidoreductase type 1;NAD(P)H:menadione oxidoreductase 1;NAD(P)H:quinone oxidoreductase 1;NAD(P)H:quinone oxireductase;NMORI;OTTHUMP00000174897;OTTHUMP00000174898;azoreductase;diaphorase (NADH/NADPH) (cytochrome b-5 reductase);diaphorase-4;dioxin-inducible 1;menadione reductase;phylloquinone reductase;quinone reductase 1 APPROVED protein-coding ENSG00000181019 HGNC:2874 00518 125860 REVIEWED 2289770 NR1H5P nuclear receptor subfamily 1, group H, member 5, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); lanosterol (ortholog); valproic acid (ortholog) 1 1 1 p13.2 113606553 113626735 + 115377077 115394165 + 114834456 114851544 + 6480464 12529392;15229292;18065488;20210993 643609 ABBA01068469;AL358372;AMYH02001786;NG_007471 Fxrb;NR1H5 APPROVED pseudo HGNC:32673 INFERRED 1352469 NR1H2 nuclear receptor subfamily 1, group H, member 2 The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010] 19 19 19 q13.3 47929924 47936510 + 50879680 50886285 + 50376423 50383028 + 61674;1626248;1580863;6480869;6480877;6482187;6480864;6482195;6480464;6482198 17108812;20467332;20679224;20939869;21266776;21815813;21859686;7971966 10187832;11158331;11546778;12040022;12198243;12393874;12477932;12663743;12724417;12736258;12819202;12957674;14643652;14699103;14702039;15489334;15539633;15548517;15604093;15774904;16141411;16189514;16219912;16298468;16344560;16354658;16482468;16524875;16567856;16904112;16973760;17045963;17110595;17135302;17186944;17218271;17391100;17396233;17405904;17626048;17693624;17724434;17766241;17845217;17900622;17936707;18026184;18081155;18182682;18221307;18372238;18597895;18636124;18660489;18782758;18854425;19060904;19105208;19242521;19292929;19303409;19426978;19436111;19481530;19796621;19837721;19913121;19933273;19948975;20159957;20176747;20219900;20364260;20628086;20655109;20836841;20855565;21042792;21315073;21331046;21356276;21507939;21900206;21937108;21951066;21988832;22027013;22029530;22257474;22367754;22610535;22723445;22766509;22939629;22969086;22990668;23018104;23223141;23455924;23686114;23838803;23867501;23987069;24100084;24398515;24561505;24842676;7625741;7760852;7782080;7926814;9013544;9874807 7376 B3KRG6;F1D8P7;M0QYE6;M0QZF5;M0R0K3;M0R1V8;M0R229;M0R2F9;M0R3A7;P55055 AB307697;ABBA01068328;AC008655;AI252503;AK091535;AK290855;AK297978;AL598714;AMYH02036348;BC007790;BC033500;BC047750;BC074500;CA414979;CH471135;CR456706;CR749648;DA053472;HQ692835;NM_001256647;NM_007121;U07132;U14534 AAA58594;AAA61783;AAH07790;AAH33500;AAH47750;AAH74500;ABM81580;ADZ17346;BAF83544;BAG52378;BAG60288;BAH02288;CAG32987;CAH18442;EAW71850;EAW71851;EAW71852;EAW71853;EAW71854;EAW71855;NP_001243576;NP_009052;P55055 Hs.432976 1678067;5022200;5022578;5022588;5022651 D11S2921;D1S1423;D5S1597E;L18426;RH70542 FLJ17564;LXR-b;LXRB;NER;NER-I;RIP15;UNR LX receptor beta;liver X nuclear receptor beta;liver X receptor beta;liver X receptor-beta;nuclear orphan receptor LXR-beta;nuclear receptor NER;oxysterols receptor LXR-beta;steroid hormone-nuclear receptor NER;ubiquitously-expressed nuclear receptor 2289232 BW89_H APPROVED protein-coding ENSG00000131408 HGNC:7965 02660 600380 VALIDATED 1347339 NR1I4 nuclear receptor subfamily 1, group I, member 4 22817 HGNC:7970 737421 NR1D2 nuclear receptor subfamily 1, group D, member 2 This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 3 3 3 p24.2 23931547 23957664 + 23986751 24022109 + 23945260 23980618 + 1580863;6480464;8554872 10198169;11113208;12477932;15489334;15604093;16741567;17463251;17870090;17892483;17996965;18037887;18218725;18454201;20348464;21123168;21906983;22828941;23455924;24250222;24872411;7997240;8948627;9482666;9611234 9975 B4DXD3;F1D8P2;Q14995;Q6NSM0 AB209091;AB307693;ABBA01025034;ABBA01025035;ABBA01025036;AC124914;AK293273;AK301925;AK313464;AMYH02006404;AMYH02006405;AMYH02006406;BC015929;BC045613;BC070035;BX537786;CA312643;CA412377;CH471055;CR457434;D16815;DR004486;HQ692830;HQ692831;KF457619;L31785;NM_001145425;NM_005126;NR_110524;XM_005265639;XM_006713451 AAA65937;AAH15929;AAH45613;AAH70035;ADZ17341;ADZ17342;BAA20088;BAD92328;BAG36250;BAG56802;BAG63345;BAH02284;CAG33715;EAW64340;EAW64341;NP_001138897;NP_005117;Q14995;XP_005265696;XP_006713514 Hs.37288 1652867;1739775;1763927;1791576;1797914;1855547;1855549;2174044;2184846;5015404;5015861;5015879;5016478;5020740;5022578;5022651;5024413;7185938 D10S16;D11S2921;D1S1423;D3S3477E;D3S3941;GDB:314949;GDB:434012;L17705;L17809;L17877;NR1D2_2031;PMC115222P4;RH47404;SGC34561;SHGC-147591;SHGC-76776;STS-L31785 BD73;EAR-1R;RVR OTTHUMP00000208397;V-erbA-related protein 1-related;nuclear receptor Rev-ErbA beta variant 1;nuclear receptor Rev-ErbA beta variant 2;nuclear receptor subfamily 1 group D member 2;orphan nuclear hormone receptor BD73;rev-erb alpha-related receptor;rev-erb-beta;rev-erba-alpha-related receptor APPROVED protein-coding ENSG00000174738 HGNC:7963 03809 602304 REVIEWED 734103 NR1H4 nuclear receptor subfamily 1, group H, member 4 This gene encodes a ligand-activated transcription factor, which shares structural features in common with nuclear hormone receptor family, such as a DNA-binding domain that targets the receptor to specific DNA sequences, and a ligand-binding domain, which interacts directly with the ligand and contains a ligand-dependent transcriptional activation domain. This protein functions as a receptor for bile acids, and when bound to bile acids, regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 12 q23.1 100532992 100622995 + 100867486 100957645 + 100473708 100563867 + 729010;1580983;1580984;1625076;1625080;1625205;1625202;1580863;6480464;6907045;8554872 14623915;15047603;15317749;15576845;15644430;16557297;7774010 10334992;10334993;11136553;11733517;12004058;12062799;12477932;12554753;12660231;12754200;12761213;12806625;12815072;12891557;12917342;14527955;14684751;14701856;14988830;14990788;15187081;15202934;15342685;15454728;15471871;15564327;15590640;15604093;15604525;15721319;15817812;15911693;16012168;16037943;16197915;16219912;16251721;16269519;16344560;16423920;16460270;16494845;16778009;17047076;17054793;17071613;17241392;17272748;17333335;17474147;17495603;17507182;17519356;17681172;17876519;17895379;17931734;17988216;18029909;18436567;18514055;18563553;18660489;18668687;18676680;18755856;18768987;18769028;18779653;18842595;18927204;18972560;18978041;19027009;19028791;19059462;19072826;19105941;19150878;19170196;19195631;19228886;19245866;19393742;19418582;19556342;19625176;19692168;19833092;19864602;19883617;19910507;19913569;19948975;19996107;20026603;20189675;20338915;20346360;20373033;20399894;20447400;20827719;20855565;20883210;21296199;21323950;21330447;21364590;21431940;21596433;21619550;21633855;21856289;21862343;21887309;21893226;21988803;22146319;22223860;22252013;22265968;22266736;22285937;22446874;22474109;22550135;22558273;22561792;22609541;22632967;22817871;22898327;22929053;22952826;22969091;23042943;23056173;23119029;23251605;23341777;23348121;23462506;23507574;23519696;23530060;23546875;23620138;23640969;23703321;23767959;23784309;23861371;23916961;23928191;24002920;24037988;24043304;24169962;24211198;24297698;24321096;24531544;7760852;9223286 9971 B6ZGS9;F1DAL1;F8W1M1;F8W656;G8JLB0;H0YHD5;Q96RI1 AB307699;ABBA01053252;ABBA01053253;ABBA01053254;ABBA01053255;AC010200;AF384555;AF478445;AF478446;AK296612;AK296647;AK312959;AMYH02027058;BC035654;BC071778;BC130573;BC144183;BC144184;BC144187;BX571749;CH471054;DA011411;HQ709175;NG_029843;NM_001206977;NM_001206978;NM_001206979;NM_001206992;NM_001206993;NM_005123;U68233;XM_006719719;XR_245969 AAB08107;AAH71778;AAI30574;AAI44185;AAK60271;AAM53550;AAM53551;ADZ17382;BAG35798;BAH02290;BAH12398;BAH12409;CAE11874;EAW97638;EAW97639;EAW97640;NP_001193906;NP_001193907;NP_001193908;NP_001193921;NP_001193922;NP_005114;Q96RI1;XP_006719782 Hs.282735;Hs.732506 1334831;1659529;1705836;1746419;1746905;1792124;1793416;1793418;1793420;1797916;1850487;2145458;2173501;2175097;7185145 AFM326tf5;D12S332;D12S871;G64580;G64833;NR1I2_2318;PMC137182P6;PMC219489P1;PMC219489P2;PMC219489P3;RH15652;RH79063;SGC33913;SHGC-81175 BAR;FXR;HRR-1;HRR1;MGC163445;RIP14 OTTHUMP00000243579;OTTHUMP00000243784;OTTHUMP00000243786;OTTHUMP00000243789;OTTHUMP00000243790;RXR-interacting protein 14;bile acid receptor;farnesoid X nuclear receptor;farnesoid X receptor;farnesoid X-activated receptor;farnesol receptor HRR-1;retinoid X receptor-interacting protein 14 APPROVED protein-coding ENSG00000012504 HGNC:7967 04827 603826 REVIEWED 1606467 NR2C2AP nuclear receptor 2C2-associated protein INVOLVED IN cell adhesion (inferred); gene expression (inferred); transcription initiation from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; all-trans-retinoic acid 19 19 19 p13.11 19217020 19219034 - 19312223 19314238 - 19201414 19203429 - 6480464;8554872 12477932;12486131;15381082;17054912;17207965;22082156;23129017;23824909;24250222 126382 F5H0B6;Q86WQ0;U3KQ53;U3KQN8 AA588235;ABBA01051318;AC003110;AK301426;AMYH02035752;AY101377;BC057837;CF993811;HY088736;NG_007432;NM_001300945;NM_176880;XM_005259740 AAH57837;AAM48286;ADQ33035;BAG62954;NP_001287874;NP_795361;Q86WQ0;XP_005259797 Hs.708153;Hs.732708 2186872 STS-N25631 TRA16 OTTHUMP00000240447;OTTHUMP00000240448;TR4 orphan receptor associated protein TRA16;TR4 orphan receptor-associated 16 kDa protein;repressor for TR4 transactivation protein-coding ENSG00000184162 HGNC:30763 16376 608719 VALIDATED 1350677 NPVF neuropeptide VF precursor INVOLVED IN negative regulation of gonadotropin secretion; FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; 1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile (ortholog); 17beta-estradiol (ortholog) 7 7 7 p21-p15 25253342 25257259 - 25264189 25268105 - 25224570 25228486 - 6480464 11025660;11173868;11481330;11951088;12690205;12853948;17474147;20027225;23551011;8889548 64111 Q9HCQ7 AB040290;ABBA01056732;AC004129;AF330057;AF440392;AF440393;AF440394;AF440395;AMYH02015384;BM714303;CH236948;CH471073;KF459598;NM_022150 AAI60068;AAK94201;AAL90453;AAL90458;AAP22339;BAB17674;EAL24237;EAW93830;NP_071433;Q9HCQ7 Hs.60473 1690694;1693922;1789122 G42652;G65697;RH98988 C7orf9;RFRP FMRFamide-related peptide;FMRFamide-related peptides;OTTHUMP00000158625;RFamide-related peptide;chromosome 7 open reading frame 9;neuropeptide NPVF;pro-FMRFamide-related neuropeptide VF protein-coding ENSG00000105954 HGNC:13782 VALIDATED 1353162 NR2C2 nuclear receptor subfamily 2, group C, member 2 This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014] 3 3 3 p25 14927498 15029051 + 14989091 15090780 + 14947584 15049273 + 69908;634394;1580863;6480464;7775017;8554872 21221781;8016112;8661150 10611280;10644740;11585904;11844790;12093744;12361719;12477932;12486131;12522137;12547194;12615366;12804775;12943985;14633987;14702039;14743216;15193450;15302918;15381082;15604093;16446357;16751776;16887930;17449468;17601350;17626013;17974920;18029348;18654987;18977241;19618297;19859911;19955181;20064081;20164171;20200282;20379614;20393820;20604713;21068381;21126370;21331078;21670149;21835421;21915030;21918225;21980489;22158122;22242598;22488850;22544925;22558309;22641218;22643835;22851693;22939624;22981905;23416702;23455924;23463759;23609451;23653479;23700229;23770285;23940728;24028082;24082073;24337384;24418622;24565101;24583925;24703702;24907344;7708055;9006963;9737983 7182 C9J2Y1;C9JKS0;C9JMI6;F2YGU2;H7C3L1;H7C3R1;P49116;Q6PHZ7 AB307708;ABBA01025147;AC090937;AC090954;AI986459;AK091226;AK094590;AK290590;AMYH02006327;BC030715;BC051670;BF307171;CA430806;CH471055;HQ995528;L27586;NM_001291694;NM_003298;XM_005265428;XM_006713320 AAA21474;AAH51670;ADZ31973;BAF83279;BAH02299;EAW64213;EAW64214;EAW64215;NP_001278623;NP_003289;P49116;XP_005265485;XP_006713383 Hs.555973 1645201;1687632;1724883;1797920;1846983;2170173;2184876;5015867;5020946;5022450;5118820 D10S275;D11S3688;D3S3339;GDB:312714;L17971;NR2C2_2354;RH119206;RH94219;SHGC-76739;STS-R79814;STS-T71249 TAK1;TR2R1;TR4;hTAK1 Nuclear hormone receptor TR4;OTTHUMP00000160276;OTTHUMP00000208280;OTTHUMP00000208281;TR4 nuclear hormone receptor;nuclear receptor subfamily 2 group C member 2;orphan nuclear receptor TAK1;orphan nuclear receptor TR4;testicular nuclear receptor 4;testicular receptor 4 APPROVED protein-coding ENSG00000177463 HGNC:7972 03253 601426 REVIEWED 1351565 NR2E3 nuclear receptor subfamily 2, group E, member 3 This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 15 15 15 q23 48989266 48996967 + 72102888 72110600 + 71810548 71818259 + 1580863;6480464;7240710;8547535;8554872;8699517 23701314 10220376;10611353;10655056;10965145;11071390;11487564;11773633;12477932;12963616;15190009;15277507;15459973;15634773;15689355;15919092;16225923;17081983;17255935;17564971;17982421;18294254;18436841;19006237;19139342;19273793;19718767;19823680;19898638;19933183;20211142;20212206;20301590;20591486;20725840;20801516;21364904;22025681;22174013;22605927;22661467;23039133;23319000;23374571;23604511;23975195;24891813;8889548 10002 F1D8Q9;Q9Y5X4 AB307710;ABBA01038740;AC104938;AF121129;AF121130;AF148128;AJ276674;AL711747;AMYH02030738;AW080977;BC041421;BU732726;CH471082;HQ692847;KF495720;NG_009113;NM_014249;NM_016346 AAD28301;AAD28302;AAF22227;AAH41421;ADZ17358;BAH02301;CAB82769;EAW77876;EAW77877;NP_055064;NP_057430;Q9Y5X4 Hs.187354;Hs.636007 1793402;1793404;1793406;1797924;2191209 MARC_16201-16202:1030023389:1;NR2E3_2317;PMC21774P1;PMC21774P2;PMC21774P3 ESCS;MGC49976;PNR;RNR;RP37;rd7 photoreceptor cell-specific nuclear receptor variant 1;photoreceptor-specific nuclear receptor;retina-specific nuclear receptor APPROVED protein-coding ENSG00000278570 HGNC:7974 05132 268100;604485;611131 REVIEWED 733364 NR1H3 nuclear receptor subfamily 1, group H, member 3 The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 11 11 11 p11.2 47409676 47429619 + 47269851 47290584 + 47248300 47269033 + 1580788;1580863;1626248;6480864;6480464;6907045;8554872 15625283;17108812;21859686 10022764;11035776;11090131;11135616;11149950;11875109;12032151;12040021;12054659;12117567;12161442;12198243;12470296;12477932;12663743;12724417;12932788;12957674;14699103;14702039;15319359;15342556;15353176;15489334;15489335;15539633;15548517;15604093;15615782;16054077;16106051;16141411;16143103;16170053;16249184;16341674;16344560;16354658;16482468;16567856;16758300;16904112;16920108;16941683;16956579;16973760;17110595;17135302;17186944;17217555;17218271;17255360;17272748;17296605;17391100;17396233;17405904;17416342;17452725;17628006;17644777;17693624;17724434;17766241;17845217;17936707;17960176;18007013;18024509;18096827;18182682;18209740;18250151;18276933;18327405;18372238;18511497;18562803;18636124;18660489;18669643;18789440;18854425;19060910;19105208;19119143;19164445;19201410;19211025;19229075;19261092;19292929;19360318;19366697;19380774;19426978;19436111;19481530;19628791;19645823;19697157;19796621;19798078;19837721;19913121;19933273;20005944;20037595;20057170;20080977;20118482;20139031;20190811;20211142;20219900;20237496;20364260;20410489;20494359;20506155;20628086;20655109;20686565;20836841;20837115;20855565;20868688;20945144;21042792;21125317;21136146;21187453;21245992;21266776;21310851;21315073;21316679;21349840;21350215;21356276;21440016;21562465;21625070;21775116;21832049;21889884;21903943;21937108;21951066;21988832;22027013;22137263;22257474;22311022;22367754;22399489;22399527;22457708;22503545;22547570;22569763;22610535;22623531;22634718;22641099;22707265;22723445;22749359;22766509;22916038;22939624;22969086;22984430;22990668;23018104;23041609;23099324;23163651;23185273;23313547;23393188;23416078;23451202;23455924;23496987;23564066;23680128;23686114;23732298;23733886;23812424;23838803;23867395;24009820;24036496;24100084;24118845;24265317;24289152;24533572;24713062;24751522;24842676;7744246;8510758;8621574;9013544;9231657;9630215 10062 B4DXU5;B5MBY7;C9J2C8;C9J4R0;C9JBS2;C9JCS0;C9JEC2;C9JJ16;C9JTS4;E9PID2;E9PLL4;E9PPA1;F1D8N1;F8WC63;F8WEY6;Q13133 AA644385;AB307698;ABBA01060721;AC018410;AI097478;AI648486;AK122661;AK290614;AK302132;AK309027;AK311590;AK313311;AMYH02024728;AU133574;AU135617;BC008819;BC041172;BM835230;BP300071;BT019411;CH471064;CV026805;HQ692819;NG_030392;NM_001130101;NM_001130102;NM_001251934;NM_001251935;NM_005693;U22662;XM_005252705;XM_005252706;XM_005252707;XM_005252709;XM_005252710;XM_005252713;XM_005252715;XM_005252716;XM_005252718;XM_006718112;XM_006718113;XM_006718114;XM_006718115;XM_006718116 AAA85856;AAH08819;AAH41172;AAV38218;ACE86722;ACE87408;ADZ17330;BAF83303;BAG36116;BAG53649;BAG63507;BAH02289;EAW67942;EAW67943;EAW67944;EAW67945;EAW67946;EAW67947;EAW67948;EAW67949;NP_001123573;NP_001123574;NP_001238863;NP_001238864;NP_005684;Q13133;XP_005252762;XP_005252763;XP_005252764;XP_005252766;XP_005252767;XP_005252770;XP_005252772;XP_005252773;XP_005252775;XP_006718175;XP_006718176;XP_006718177;XP_006718178;XP_006718179 Hs.438863 1794632;1795158;2108321;2116349;2144395;5115848;7184962 NR1H3_7962;PMC33205P3;PMC99927P1;RH79033;STS-U22662;ksks34 CHOP;LXR-a;LXRA;RLD-1;TLS/CHOP OTTHUMP00000198037;OTTHUMP00000198038;OTTHUMP00000198039;OTTHUMP00000198040;OTTHUMP00000198041;OTTHUMP00000234325;OTTHUMP00000234326;OTTHUMP00000234328;OTTHUMP00000234330;liver X nuclear receptor alpha variant 1;liver X receptor alpha;liver X receptor, alpha;liver X receptor-alpha;oxysterols receptor LXR-alpha APPROVED protein-coding ENSG00000025434 HGNC:7966 07211 602423 REVIEWED 1344559 NR2C1 nuclear receptor subfamily 2, group C, member 1 This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 q22 95085340 95138686 - 95414005 95467404 - 95020229 95073628 - 1580863;6480464 11463856;12093744;12093804;12361719;12477932;12615366;12943985;12949936;14521922;16344560;17010934;19204783;19850743;20379614;21360626;21670149;21900206;24250222;2597158;3421977;9704569;9737983;9774688;9795341 7181 F8W1Q1;H0YHC6;H0YIV1;H9NIM2;H9NIM3;P13056 AB307707;ABBA01053345;ABBA01053346;ABBA01053347;ABBA01053348;AC011598;AK291319;AMYH02026966;AMYH02026967;AMYH02026968;BC026074;BC040141;BE676699;CH471054;DB266298;JQ308177;JQ308178;M21985;M29959;M29960;NM_001032287;NM_001127362;NM_003297;XM_005269133;XM_006719584;XM_006719585;XM_006719586;XR_245956;XR_429114;XR_429115 AAA36650;AAA36761;AAA36762;AAH40141;ADZ15562;AFF59487;AFF59488;BAF84008;BAH02298;EAW97517;EAW97518;EAW97519;EAW97520;NP_001027458;NP_001120834;NP_003288;P13056;XP_005269190;XP_006719647;XP_006719648;XP_006719649 Hs.108301;Hs.707524 1654288;1697358;1855094;1855275;2028990;2144508;2217674 D12S1885;NR2C1_2654;REN85499;RH102177;SHGC-35295;STS-H68838;WI-15851 TR2 OTTHUMP00000243013;OTTHUMP00000243015;OTTHUMP00000243016;TR2 nuclear hormone receptor;nuclear receptor subfamily 2 group C member 1;nuclear receptor subfamily 2, group C isoform;orphan nuclear receptor TR2;testicular nuclear receptor 2 variant 1;testicular nuclear receptor 2 variant 2;testicular receptor 2 APPROVED protein-coding ENSG00000120798 HGNC:7971 03318 601529 REVIEWED 7244940 NR2F1-AS1 NR2F1 antisense RNA 1 5 5 5 q15 88604127 88776391 - 92745065 92917003 - 93409356 93581320 - 12477932;14702039;16344560;23583100 441094 ABBA01069285;ABBA01069286;AC008500;AC012619;AC106818;AC114961;AK095719;AK124699;AK296281;AK311143;AK311323;AMYH02011799;AMYH02011800;AW194934;BC010610;BC018089;BC042879;BC044619;BC048999;BC144330;BC144331;BX647510;DA107272;DA718791;DB168614;DB257894;DC298450;HY108556;KF457944;LN608041;LN608042;LN608044;LN608045;LN608047;LN608049;LN608050;LN608051;LN608052;LN608053;LN608054;NR_021490;NR_021491;NR_109818;NR_109819;NR_109820;NR_109821;NR_109822;NR_109823;NR_109824;NR_109825 BAG58990 Hs.457407 1669258;1688235;1699080;1700332;1710608;1850350;2018050;2158067 REN79972;RH103116;RH103786;RH66621;RH92161;SHGC-2404;SHGC-84092;WI-16374 ncrna ENSG00000237187 HGNC:48622 VALIDATED 69105 NR1I2 nuclear receptor subfamily 1, group I, member 2 This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008] 3 3 3 q12-q13.3 117908432 117946438 + 119499331 119552295 + 119780484 119818485 + 1580863;6480464;8554872 10473093;11114890;11297522;11408620;11668216;11865669;11891224;12072427;12397176;12413960;12477932;12485946;12569201;12578355;12606758;12644700;12760308;12909012;12920130;14702340;14977869;14977870;15252010;15316010;15322103;15489334;15535420;15604093;15610065;15618712;15630458;15690482;15713537;15772695;15919766;15933212;15985196;16085054;16144941;16219912;16297466;16328955;16452398;16472590;16507781;16556603;16606623;16608838;16691293;16831602;16834332;16837625;16841097;16857725;16952547;16973756;17028159;17048007;17050801;17088262;17262809;17279585;17327420;17404718;17418145;17429319;17436120;17438109;17507630;17526937;17573484;17576789;17635106;17712488;17761971;17764444;17827782;17828778;17876342;17924830;17925385;17962194;18056193;18095058;18192894;18220558;18268015;18276839;18294295;18305370;18305375;18381611;18391510;18502461;18518855;18765524;18784074;18800312;18831695;18978041;18981011;19010908;19011999;19034627;19115096;19124506;19129222;19141612;19144646;19171678;19173680;19232333;19297428;19401882;19460945;19470925;19505191;19516190;19593667;19617467;19702932;19739075;19746521;19833192;19842932;19878569;19898482;19902988;19913121;19934400;19940802;19958310;20082578;20107201;20171174;20218903;20222094;20346360;20354687;20361990;20379614;20413580;20518891;20531417;20538049;20538721;20624854;20628086;20635135;20719936;20818746;20819778;20836841;20840328;20846001;20861742;20876786;20970601;21127053;21245992;21292004;21316268;21323950;21329659;21342487;21359593;21391917;21402137;21438836;21461878;21517853;21532337;21596433;21733184;21742782;21747170;21805522;21808872;21830270;21913896;21918980;21954916;21977915;21988832;22000295;22023334;22050110;22076448;22093699;22126990;22166712;22185585;22285937;22292071;22333269;22453080;22453193;22750628;22829544;22939624;22952895;22968811;23160820;23160821;23288240;23303387;23479137;23503472;23525103;23527115;23562850;23574760;23602807;23609392;23614276;23878263;23977680;24052258;24088131;24097976;24166671;24184507;24204015;24232815;24315978;24316275;24329114;24362030;24384557;24438055;24732013;8125298;9489701;9727070;9770465;9784494 8856 F1D8P9;H0Y8E2;J3KPQ3;O75469 AB307701;ABBA01061575;ABBA01061576;ABBA01061577;AC069444;AF061056;AF084644;AF084645;AF364606;AJ009936;AJ009937;AK122990;AK223456;AK310789;AMYH02007505;AMYH02007506;AY007189;AY091855;BC017304;CH471052;DQ911122;DQ923326;EF614253;HQ692837;HQ709177;KF457674;NG_011856;NM_003889;NM_022002;NM_033013 AAC64557;AAC64558;AAD05436;AAG23345;AAH17304;AAK38720;AAK38721;AAK38722;AAM26736;ABJ52965;ABJ52966;ABR09276;ADZ17348;ADZ17384;BAG53837;BAH02292;CAB55489;CAB55490;CAB55491;CAB55492;CAB55493;CAB55494;EAW79537;EAW79538;EAW79539;NP_003880;NP_071285;NP_148934;O75469 Hs.7303 1338401;1658764;1797918;2126725;2138608;2143418;2153505;2191669;5092682 A005P48;AFMA323WF9;D3S3620;G32262;MARC_4339-4340:996679552:1;NR1I3_2131;SHGC-56597;SHGC-77233;STS-T26531 BXR;ONR1;PAR;PAR1;PAR2;PARq;PRR;PXR;SAR;SXR OTTHUMP00000215173;OTTHUMP00000215174;OTTHUMP00000215175;nuclear receptor subfamily 1 group I member 2;nuclear receptor subfamily 1, group 1, member 2;orphan nuclear receptor PAR1;orphan nuclear receptor PXR;pregnane X nuclear receptor variant 2;pregnane X receptor;steroid and xenobiotic receptor APPROVED protein-coding ENSG00000144852 HGNC:7968 04346 603065 REVIEWED 1344163 NR1I3 nuclear receptor subfamily 1, group I, member 3 This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q23.3 134266598 134275155 - 161199456 161208432 - 161229666 161238642 - 1580863;6480464;8554872 11114890;11891224;12114525;12130689;12181452;12376703;12477932;12485946;12511605;12551939;12611900;12644700;12644704;12799447;12896978;14567971;14963109;15151997;15194709;15252010;15272053;15382119;15489334;15563456;15572376;15604093;15610735;15618763;15831521;15919766;15933212;16554032;16712791;17207965;17276571;17464991;17576804;17596880;17876342;17888866;17962186;18056193;18154449;18202305;18294295;18303024;18305370;18331826;18332083;18552123;18713018;19034627;19302787;19682433;19702932;19858220;20197307;20218903;20622021;20966044;21296199;21359593;21415305;21517853;21715435;21733368;21873423;21988832;22093699;22815988;22896671;22910411;22939624;22978668;23079705;23172109;23303387;23539296;23578392;23614276;23934188;24104474;24224465;24232815;8020947;8114692;8603043;8650544;9295294;9773978;9783588 9970 B7Z8R7;C0H5Y2;D6REZ7;E9PCF2;F1DAL4;Q14994;Q6GZ69;Q6GZ70;Q6GZ72;Q6GZ81 AA918394;AB307702;ABBA01016596;AC243898;AK303757;AK303796;AK310773;AK316208;AL590714;AY572806;AY572807;AY572808;AY572809;AY572810;AY572811;AY572812;AY572813;AY572814;AY572815;AY572816;AY572817;AY572818;AY572819;AY572820;AY572821;AY572822;AY572823;AY572824;AY572825;AY572826;AY572827;BC030972;BC069626;BC069651;BC121120;BC121121;CB124867;CH471121;DQ022681;HQ692838;HQ692839;HQ692840;HQ692841;HQ709178;NG_029113;NM_001077469;NM_001077470;NM_001077471;NM_001077472;NM_001077473;NM_001077474;NM_001077475;NM_001077476;NM_001077477;NM_001077478;NM_001077479;NM_001077480;NM_001077481;NM_001077482;NM_005122;XM_005245693;XM_005245694;XM_005245697;XM_006711696 AAH69626;AAH69651;AAI21121;AAI21122;AAT47159;AAT47160;AAT47161;AAT47162;AAT47163;AAT47164;AAT47165;AAT47166;AAT47167;AAT47168;AAT47169;AAT47170;AAT47171;AAT47172;AAT47173;AAT47174;AAT47175;AAT47176;AAT47177;AAT47178;AAT47179;AAT47180;AAY56401;ADQ31935;ADZ17349;ADZ17350;ADZ17351;ADZ17352;ADZ17385;BAH02293;BAH14039;BAH14053;BAH14579;EAW52608;EAW52609;EAW52610;NP_001070937;NP_001070938;NP_001070939;NP_001070940;NP_001070941;NP_001070942;NP_001070943;NP_001070944;NP_001070945;NP_001070946;NP_001070947;NP_001070948;NP_001070949;NP_001070950;NP_005113;Q14994;XP_005245750;XP_005245751;XP_005245754;XP_006711759 Hs.349642 1675289;1700380;1770437;1792762;1792764;2169670;2175302;5014051;5021872;5022200;5022651;5093974 A009Z46;D11S2921;D1S3429;D8S2278;G33032;L18426;PMC162252P1;PMC162252P2;RH103810;RH70980;RH71314;sY3084 CAR;CAR1;MB67;MGC150433;MGC97144;MGC97209 OTTHUMP00000032245;OTTHUMP00000032246;OTTHUMP00000217486;OTTHUMP00000217487;OTTHUMP00000217488;OTTHUMP00000217489;OTTHUMP00000217490;OTTHUMP00000217492;OTTHUMP00000217493;OTTHUMP00000217497;OTTHUMP00000217499;OTTHUMP00000217501;OTTHUMP00000217502;OTTHUMP00000217505;OTTHUMP00000217506;OTTHUMP00000217507;OTTHUMP00000217508;OTTHUMP00000217509;OTTHUMP00000217510;constitutive activator of retinoid response;constitutive active receptor;constitutive active response;constitutive androstane nuclear receptor variant 2;constitutive androstane nuclear receptor variant 3;constitutive androstane nuclear receptor variant 4;constitutive androstane nuclear receptor variant 5;constitutive androstane receptor;nuclear receptor subfamily 1 group I member 3;orphan nuclear hormone receptor;orphan nuclear receptor MB67 APPROVED protein-coding ENSG00000143257 HGNC:7969 04858 603881 REVIEWED 1346337 NR2E1 nuclear receptor subfamily 2, group E, member 1 ENCODES a protein that exhibits DNA binding (inferred); histone deacetylase binding (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (inferred); INVOLVED IN aggressive behavior (inferred); amygdala development (inferred); anterior commissure morphogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleoplasm (inferred); nucleus (inferred); INTERACTS WITH arsenite(3-); copper(2+) sulfate; trichostatin A 6 6 6 q21 109233715 109256507 + 108487215 108510013 + 108166058 108188809 + 1580863;6480464;8554872 11073974;12079282;12477932;14574404;15123239;15489334;16000615;16344560;16481466;17054721;17655765;17873065;18205168;18391013;19058789;19555662;20360385;20599619;20814749;21135096;21368052;21957244;22290436;22675500;23028043;23213277;23510989;23975195;25015289;8047143;9628820 7101 A6PVF6;B6ZGT9;Q9Y466 AB307709;ABBA01026155;AF220532;AF411525;AK131541;AL078596;AMYH02014263;AMYH02014264;BC028031;CH471051;DA806924;HQ692846;NM_001286102;NM_003269;Y13276 AAG31945;AAH28031;AAL05871;ADZ17357;BAD18677;BAH02300;CAA73725;EAW48385;EAW48386;NP_001273031;NP_003260;Q9Y466 Hs.157688 1335700;1646978;1797922;1800386;1800894;1800960;1801300;1801470;1807930;1808358;1809536;1809814;1810090;1810394;1810738;1810968;1811126;1811496;1811676;1811994;1812908;1814240;1816966;1817720;1819432;1822210;1823982;1826128;1826744;1830374;1834330;1843008;1957672;1957674;1957676;1957678;1957680;1957682;1957684;1957686;1957688;1957690;1957692;1957694;1957696;1957698;1957700;1957702;1957704;1957706;1957708;1957710;1957712;1957714;1957716;1957718;1957720;1957722;1957724;1957726;1957728;1957730;1957732;1957734;1957736;1957738;1957740;1957742;1957744;1957746;1957748;1957750;1957752;1957754;1957756;1957758;1957760;1957762;1957764;1957766;1957768;1957770;1957772;1957774;1957776;1957778;1957780;1957782;1957784;1957786;1957788;1957790;1957792;1957794;1957796;1957798;1957800;1957802;1957804;1957806;1957808;1957810;1957812;1957814;1957816;1957818;1957820;1957822;1957824;1957826;1957828;1957830;1957832;1957834;1957836;1957838;1957840;1957842;1957844;1957846;1957848;1957850;1957852;1957854;1957856;1957858;1957860;1957862;1957864;1957866;1957868;1957870;1957872;1957874;1957876;1957878;1957880;1957882;1957884;1957886;2212884;2212886;2212888;2212890;2212892;2212894;2212896;2212898;2212900;2212902;2212904;2212906;2212908;2212910;2212912;2212914;2212916;2212918;2212920 D6S1594;ECD01053;ECD01312;ECD01345;ECD01522;ECD01610;ECD04940;ECD05160;ECD05760;ECD05899;ECD06037;ECD06189;ECD06364;ECD06482;ECD06561;ECD06748;ECD06842;ECD07002;ECD07468;ECD08149;ECD09532;ECD09913;ECD10783;ECD12191;ECD13087;ECD14174;ECD14486;ECD16321;ECD18313;ECD22712;NR2E1_2053;REN49703;REN49704;REN49705;REN49706;REN49707;REN49708;REN49709;REN49710;REN49711;REN49712;REN49713;REN49714;REN49715;REN49716;REN49717;REN49718;REN49719;REN49720;REN49721;REN49722;REN49723;REN49724;REN49725;REN49726;REN49727;REN49728;REN49729;REN49730;REN49731;REN49732;REN49733;REN49734;REN49735;REN49736;REN49737;REN49738;REN49739;REN49740;REN49741;REN49742;REN49743;REN49744;REN49745;REN49746;REN49747;REN49748;REN49749;REN49750;REN49751;REN49752;REN49753;REN49754;REN49755;REN49756;REN49757;REN49758;REN49759;REN49760;REN49761;REN49762;REN49763;REN49764;REN49765;REN49766;REN49767;REN49768;REN49769;REN49770;REN49771;REN49772;REN49773;REN49774;REN49775;REN49776;REN49777;REN49778;REN49779;REN49780;REN49781;REN49782;REN49783;REN49784;REN49785;REN49786;REN49787;REN49788;REN49789;REN49790;REN49791;REN49792;REN49793;REN49794;REN49795;REN49796;REN49797;REN49798;REN49799;REN49800;REN49801;REN49802;REN49803;REN49804;REN49805;REN49806;REN49807;REN49808;REN49809;REN49810;RH46630;stSG634165;stSG634167;stSG634168;stSG634169;stSG634170;stSG634171;stSG634172;stSG634173;stSG634174;stSG634175;stSG634176;stSG634177;stSG634178;stSG634179;stSG634180;stSG634181;stSG634182;stSG634183;stSG634184 TLL;TLX;XTLL;hTll OTTHUMP00000016940;OTTHUMP00000196345;nuclear receptor TLX;nuclear receptor subfamily 2 group E member 1;tailes-related receptor;tailless homolog protein-coding ENSG00000112333 HGNC:7973 07230 603849 VALIDATED 6778959 NR2F2-AS1 NR2F2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 15 15 15 q26.2 73228201 73286791 - 96809615 96870590 - 96266386 96327361 - 6480464;8554872 14702039;16344560;17554300;22554406;23793025 644192 ABBA01032423;AC012409;AC016251;AK000872;AK307134;AMYH02031116;AW451632;BI758289;CB217374;CF528780;DA627574;DA941342;HG507478;HG507479;HG507481;HG507482;HG507483;HG507484;LK938400;LK938402;NR_102743;NR_102744;NR_125738;XR_248178;XR_248179;XR_248180;XR_253457;XR_253460;XR_253461;XR_424673;XR_424674;XR_424675;XR_429617;XR_429618;XR_429619;XR_433188;XR_433189 Hs.58690;Hs.734208 1656929;2154722 STS-T94368;WI-3675 RP11-327J17.3 APPROVED ncrna ENSG00000247809 HGNC:44222 VALIDATED 732429 NR2F1 nuclear receptor subfamily 2, group F, member 1 The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014] 5 5 5 q14 88778440 88789186 + 92919043 92930319 + 93583337 93594082 + 1580863;6480464;8699517;7240710;8554872 10207062;10620335;10644726;10644740;10652338;10656770;10744719;11043578;11811951;11934895;12093745;12477932;12551987;12972613;1311101;1331778;15140878;15157742;1517211;15489334;15604093;15849318;16219912;17009409;17674191;18199540;19112178;19322201;19460752;19505873;19526345;19578876;20007910;20111703;20306291;21139048;21890473;21900206;21906983;22357705;22952844;23975195;24462372;2739739;2905047;8530078;8798567;9388268;9395481 7025 F1DAL7;F1DAL9;P10589 ABBA01069283;ABBA01069284;ABBA01069285;AC106818;AF087978;AMYH02011801;AMYH02011802;BC004154;BC017493;CH471084;HQ709180;HQ709181;HQ709182;HQ709183;NG_034119;NM_005654;X12795;X16155 AAH04154;AAH17493;ADZ17387;ADZ17388;ADZ17389;ADZ17390;CAA31283;CAA34277;EAW96008;EAW96009;NP_005645;P10589 Hs.519445 2132049;2217676;5022741 NR2F1;NR2F1_3233;SHGC-12323 COUP-TF I;COUP-TF1;COUP-TFI;EAR-3;EAR3;ERBAL3;NR2F2;SVP44;TCFCOUP1;TFCOUP1 BBOAS;BBSOAS;COUP transcription factor 1;COUP transcription factor I;OTTHUMP00000147621;V-erbA-related protein 3;chicken ovalbumin upstream promoter-transcription factor I;transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3) protein-coding ENSG00000175745 HGNC:7975 00584 132890;615722 REVIEWED 733507 NR2F6 nuclear receptor subfamily 2, group F, member 6 ENCODES a protein that exhibits sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; FOUND IN nucleus; INTERACTS WITH 4-hydroxynon-2-enal; aflatoxin B1; arsenous acid 19 19 19 p13.1 17244237 17257694 - 17342692 17356744 - 17231885 17245342 - 1580863;6480464 10318855;10644740;10713182;12477932;12690040;15302935;15489334;15604093;19505873;20195357;21247419;21696885;21890473;21906983;21963094;23975195;2905047;9226381 2063 B4DQE4;F1D8R3;M0R175;P10588 AB307712;ABBA01051187;AC010646;AK298764;AK314961;AMYH02035698;AMYH02035699;BC002669;BC063018;BC084544;CH471106;HQ692851;NM_005234;X12794 AAH02669;AAH63018;AAH84544;ADZ17362;BAG37465;BAG60906;BAH02303;CAA31282;EAW84580;NP_005225;P10588 Hs.466148 1689811;2108845;2136909 NR2F6_3193.2;RH80702;STS-X12794 EAR-2;EAR2;ERBAL2 ERBA-related gene-2;V-erbA-related protein 2;nuclear receptor V-erbA-related;nuclear receptor subfamily 2 group F member 6;v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 2 protein-coding HGNC:7977 00583 132880 VALIDATED 1348747 NR4A3 nuclear receptor subfamily 4, group A, member 3 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 9 9 9 q22 73097532 73142572 + 102584137 102629173 + 99821855 99866891 + 1580863;6480464;8699517 10359536;10602519;11156374;11173923;12543801;14525795;14962944;15164053;15262426;15523651;15604093;15949808;15964844;16223362;16873729;16945922;17515897;17596136;17981763;18325999;19321449;19336002;19682370;19720740;19727524;19775727;20411565;20558821;20659174;20668010;21621845;21725049;21752397;21873782;22143616;22569967;22789442;23064961;23247046;23390133;23462179;23554459;23588370;24005216;24657653;7811288;8570200;8614405;8634690;8809112;9573341 8013 Q92570 ABBA01042896;ABBA01042897;AK226108;AL358937;AL359710;AMYH02021331;AMYH02021332;AMYH02021333;BX649089;CH471105;D78579;D85241;D85242;NG_028910;NM_006981;NM_173199;NM_173200;S81243;U12767;X89894;XM_005252237 AAB02581;AAB36006;BAA11419;BAA28608;BAA31221;CAA61984;CAH10551;EAW58915;EAW58916;EAW58917;EAW58918;NP_008912;NP_775291;NP_775292;Q92570;XP_005252294 Hs.279522 1645902;1670827;1680639;1791916;1797930 NR4A3_2160;PMC133552P1;RH78307;RH93279;STS-X89894 CHN;CSMF;NOR1;TEC MINOR;OTTHUMP00000022774;OTTHUMP00000022775;OTTHUMP00000022776;chondrosarcoma, extraskeletal myxoid, fused to EWS;mitogen induced nuclear orphan receptor;mitogen-induced nuclear orphan receptor;neuron derived orphan receptor;neuron-derived orphan receptor 1;nuclear hormone receptor NOR-1;nuclear receptor subfamily 4 group A member 3;translocated in extraskeletal chondrosarcoma APPROVED protein-coding ENSG00000119508 HGNC:7982 02766 600542 REVIEWED 733363 NR3C2 nuclear receptor subfamily 3, group C, member 2 This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 q31.1 146321236 146684999 - 148999915 149365850 - 148078764 148444698 - 1600927;1600930;1580863;6480464;6907045;7240710;7421504;8554872;8699517 16972228;21784126;9662404 10391210;10691735;10760050;10884226;10935545;10936692;11134129;11154266;11344206;11350956;11518808;11675945;11711524;11960770;12015312;12125101;12477932;12483305;12538613;12544508;12644298;12679457;12788847;14500761;14617569;14702039;15080790;15117605;15120696;15126537;15171715;15192075;15604093;15666800;15713533;15718497;15737989;15761029;15761031;15824464;15882548;15908963;15939817;15967794;16061183;16145013;16275882;16344560;16446868;16516149;1655735;16954160;16964418;17018659;17105732;17133261;17287415;17311890;17314004;17334527;17670905;17675581;17703341;17724138;18182467;18184651;18408592;18443236;18467630;18468809;18819053;18981328;19086053;19260141;19325532;19344080;19477942;19541744;19648477;19648480;19665310;19850283;19912655;19913121;19944075;19955850;20030467;20054001;20299606;20357208;20379614;20484457;20486282;20528958;20535141;20628086;20661446;20680430;20832946;20855654;20884124;21036197;21095064;21125974;21145461;21159846;21164267;21195417;21354648;21441311;21482958;21531081;2162806;21654856;21664233;21664417;21718752;21723914;21747041;21767600;21771637;21784127;21820032;21820034;21820485;21827828;21903996;21930186;21945603;21988832;22042931;22155566;22234470;22326264;22407082;22494929;22584804;22589738;22723323;22832354;22843494;22939624;23026756;23040111;23041672;23055001;23137715;23204024;23291589;23296296;23408906;23543128;23555666;23852419;24088384;24206662;24469458;24485490;24491541;24595810;2558856;3037703;7495694;8612804;8889548;9115274;9141514;9392437;9618022;9724527 4306 B0ZBF6;B0ZBF8;P08235 AB209056;ABBA01070063;ABBA01070064;AC069272;AC093678;AC093881;AC104691;AC106889;AJ315514;AJ315515;AK123047;AK304318;AMYH02010280;AMYH02010281;AMYH02010282;AMYH02010283;BC111758;BQ184536;CH471056;DB061545;DB232659;EU326312;FJ515829;KF457825;KF510256;M16801;NG_013350;NM_000901;NM_001166104;U48393;X97925;XM_005263014;XM_006714222 AAA59571;AAI11759;AAY41033;ACA05923;ACA05924;ACA05926;ACS13715;ACS13716;ACS13718;BAD92293;BAG65170;CAC67405;CAC67406;EAX05008;NP_000892;NP_001159576;P08235;XP_005263071;XP_006714285 Hs.163924 1645446;1648266;1661361;1672656;1694462;1696056;1719401;1742197;1753677;1797928;1849363;2117144;2135473;2155872;2190771 D4S3136;D4S881;DXYS12Y;G34293;G42952;GDB:193631;NR3C2;NR3C2_2289;RH123481;SHGC-107594;SHGC-50219;SHGC-51231;SHGC-59557;SHGC-83211;SHGC4-1531 FLJ41052;MCR;MGC133092;MLR;MR;NR3C2VIT OTTHUMP00000220257;OTTHUMP00000220259;OTTHUMP00000220260;OTTHUMP00000220261;aldosterone receptor;mineralocorticoid receptor;mineralocorticoid receptor 1;mineralocorticoid receptor delta APPROVED protein-coding ENSG00000151623 HGNC:7979 02991 177735;600983;605115 REVIEWED 732751 NR4A1 nuclear receptor subfamily 4, group A, member 1 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 12 12 12 q13 51247867 51255961 + 52416616 52453291 + 52022832 52059507 + 1580863;6480464;6907045 10777386;10947977;11274386;11559707;11700033;11883936;11983153;12032831;12046067;12082103;12153396;12376465;12477932;12506026;12842839;12947120;14500374;14525795;14592536;14612408;14678255;14702039;14729605;14751250;14769794;14980220;15033715;15159280;15208301;15292355;15385570;15459248;15466594;15486232;15489334;15494375;15498889;15509776;15591535;15625237;15871945;15964844;16002533;16082387;16169070;16223362;16237153;16264271;16434970;16467267;16480977;1651101;16595694;16713569;16723716;16847753;16873729;16904076;17023523;17139261;17297306;17434920;17515897;17543277;17543302;17709892;17761950;18059339;18073527;18079734;18202854;18248459;18292087;18305400;18305892;18654987;18713840;18835031;18985028;19148494;19213954;19321449;19675165;19751824;19789410;20010315;20023005;20059973;20083153;20195357;20217038;20411565;20438716;20525362;20558821;20642837;20659174;20668010;20677014;20809206;20847229;21146499;21480782;21621845;21659476;21693764;21726557;21752397;21900206;21906983;21963094;21986938;21988832;22049082;22081070;22143616;22159226;22301783;22427340;22470048;22551568;22628435;22761936;22789442;2283997;22983157;23043761;23071566;23088713;23247046;23315169;23416839;23660295;23720056;23831020;23836374;23873636;24005216;24060638;24075454;24299210;24423919;24553175;24744301;2555161;2626032;7890657;8227042 3164 F5GXF0;F8VVX9;H3BPN8;H3BQG5;H3BSB9;H3BSM8;H3BT85;P22736 AB307717;ABBA01031623;ABBA01031624;ABBA01031625;AC025259;AK075054;AK075491;AK096816;AK131566;AK297526;AK314437;AL702926;AL831844;AMYH02026498;BC016147;BG057763;BT007144;CH471111;CR456704;D49728;D85245;HC025814;HQ692855;L13740;NM_001202233;NM_001202234;NM_002135;NM_173157;U17590;XM_005268822;XM_005268823;XM_005268824;XM_006719363;XM_006719364 AAA36763;AAH16147;AAP35808;ABM82060;ABM85239;ADZ17366;BAA08565;BAA12746;BAD18699;BAG37048;BAG59929;BAH02308;CAD38550;CAG32985;CBH19838;EAW58222;EAW58223;EAW58224;EAW58225;EAW58226;EAW58227;EAW58228;NP_001189162;NP_001189163;NP_002126;NP_775180;P22736;XP_005268879;XP_005268880;XP_005268881;XP_006719426;XP_006719427 Hs.524430;Hs.670088 1335468;1681827;1791426;5037552 D12S1712;D8S2279;PMC109903P1;RH80778 GFRP1;HMR;MGC9485;N10;NAK-1;NGFIB;NP10;NUR77;ST-59;TR3 OTTHUMP00000197256;OTTHUMP00000241625;OTTHUMP00000241626;TR3 orphan receptor;early response protein NAK1;growth factor-inducible nuclear protein N10;hormone receptor;immediate early gene transcription factor ngfi-b;nerve growth factor IB nuclear receptor variant 1;nuclear hormone receptor NUR/77;nuclear receptor subfamily 4 group A member 1;orphan nuclear receptor HMR;orphan nuclear receptor TR3;steroid receptor TR3;testicular receptor 3 APPROVED protein-coding ENSG00000123358 HGNC:7980 00744 139139 REVIEWED 735361 NR2F2 nuclear receptor subfamily 2, group F, member 2 This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 15 15 15 q26 73285358 73299693 + 96869157 96883492 + 96325928 96340263 + 1580863;6480464;6484113;8699517 10318855;10704340;10744719;11544252;12477932;12614160;12843196;1312668;14739255;15140878;15231748;15265774;15489334;15604093;15611122;15666827;16219912;17455195;17554300;18199540;1820218;18765665;18798693;18815287;1899293;19082449;19154418;19210544;19505873;19913121;20147377;20195529;20211142;20351309;20386594;20549515;20585627;20628086;21151097;21549307;21890473;21906983;21988832;22178710;22219177;22242598;22493443;22569225;22606236;22693611;22734039;22829776;23136034;23201680;23345397;23458092;23690307;23704310;23744056;23975195;24058409;24122412;24141032;24176914;24702954;8530078;8910285;9115274;9343308;9826778 7026 F1D8R0;H3BTC2;P24468 AB307711;ABBA01032422;ABBA01032423;AC016251;AC103746;AF087993;AK298824;AK301595;AK316086;AMYH02031116;BC014664;BC033957;BC034585;BC042897;BC106083;BX538114;CH471101;FM208183;HQ692848;HQ692849;HQ692850;M62760;M64497;NG_016753;NM_001145155;NM_001145156;NM_001145157;NM_021005;U60477 AAA21479;AAA86429;AAB09475;AAH14664;AAH42897;AAI06084;ADZ17359;ADZ17360;ADZ17361;BAG60954;BAG63083;BAH02302;BAH14457;CAR63888;EAX02195;EAX02196;EAX02197;EAX02198;NP_001138627;NP_001138628;NP_001138629;NP_066285;P24468 Hs.347991 1654803;1797926;1848821;1855448;2154722;2189757;5022741;5491898 D1Bda25;D7S2770;NR2F1;NR2F2_2074;Nr2f2;RH45711;STS-T94368;WI-22254 ARP1;CHTD4;COUP-TFII;COUPTFII;MGC117452;NF-E3;NR2F1;SVP40;TFCOUP2 ADP-ribosylation factor related protein 1;COUP transcription factor 2;COUP transcription factor II;COUPTFB;OTTHUMP00000194781;apolipoprotein A-I regulatory protein 1;apolipoprotein AI regulatory protein 1;chicken ovalbumin upstream promoter transcription factor 2;chicken ovalbumin upstream promoter-transcription factor I;chicken ovalbumin upstream promoter-transcription factor II variant 1;chicken ovalbumin upstream promoter-transcription factor II variant 2;chicken ovalbumin upstream promoter-transcription factor II variant 3 APPROVED protein-coding ENSG00000185551 HGNC:7976 00139 107773;615779 REVIEWED 1347970 NR3C1P1 nuclear receptor subfamily 3, group C, member 1 pseudogene 1 16 16 q24.2 87500742 87501291 + 87467136 87467685 + 12843156;2867473 2910 ABBA01034330;AC105429;AMYH02032615;NG_029774 GCR2;GCRL;GRLL1;NR3C1P APPROVED pseudo HGNC:4592 138060 INFERRED 1345014 NR6A1 nuclear receptor subfamily 6, group A, member 1 This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013] 9 9 9 q33.3 97931920 98181465 - 127279554 127533589 - 124517275 124771310 - 1580863;6480464;8554872 10524192;10940306;11387038;11969338;12080054;12381721;12477932;12606326;15456763;15489334;16169070;17416745;20379614;20583170;21056546;23532770;23975195;24049095;8982251;9099702;9134503;9177477;9537518;9846950;9858592 2649 C9JDI9;F1D8S0;F1DAM1;Q15406 AA467752;ABBA01043750;ABBA01043751;ABBA01043752;ABBA01043753;ABBA01043754;AF004291;AL158075;AL354928;AL354979;AL669818;AMYH02021629;AMYH02021630;AMYH02021631;AMYH02021632;AMYH02021633;AMYH02021634;BC030600;BC042395;BC042406;CH471090;HQ692858;HQ709185;NM_001278546;NM_001489;NM_033334;S83309;U80802;XM_005251917;XM_005251918 AAB50876;AAB96828;AAC52054;AAH30600;ADZ17369;ADZ17392;EAW87593;EAW87594;EAW87595;NP_001265475;NP_001480;NP_201591;Q15406;XP_005251974;XP_005251975 Hs.20131;Hs.586460 1337258;1672320;1687453;1716363;1777310;1853208;1853455;2139818;7186296 AFMA212WE1;D9S1840;RH121360;RH91255;SHGC-34240;SHGC-9435;STS-X99975;WI-11569 CT150;GCNF;GCNF1;NR61;RTR;hGCNF;hRTR OTTHUMP00000022112;OTTHUMP00000215858;OTTHUMP00000215859;OTTHUMP00000215861;germ cell nuclear factor;germ cell nuclear factor variant 1;nuclear receptor subfamily 6 group A member 1;retinoic acid receptor-related testis-associated receptor;retinoid receptor-related testis-specific receptor APPROVED protein-coding ENSG00000148200 HGNC:7985 04147 602778 REVIEWED 1604888 NRARP NOTCH-regulated ankyrin repeat protein INVOLVED IN negative regulation of Notch signaling pathway; positive regulation of canonical Wnt signaling pathway; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; arsenite(3-) 9 9 9 q34.3 110710036 110715958 - 140194083 140196703 - 137299631 137302251 - 6480464 12477932;16712791;17207965;19154719;20098747;24778018 441478 Q7Z6K4 ABBA01022756;AMYH02021928;AMYH02021929;BC053618;BX255925;CB066921;CB132749;CH471090;CK819901;NM_001004354 AAH53618;ADQ33074;EAW88380;NP_001004354;Q7Z6K4 Hs.535075;Hs.732282 2132928 A004Q02 MGC61598 OTTHUMP00000209271;notch-regulated ankyrin repeat-containing protein protein-coding HGNC:33843 17564 VALIDATED 3302160 NRADDP neurotrophin receptor associated death domain, pseudogene The neurotrophin receptor alike death domain proteins belong to the death domain superfamily and are involved in mediating apoptosis. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008] 3 3 3 p21.31 46991549 46993474 + 47053032 47054957 + 47011542 47013467 + 6480464 12095158;12728256;18085818;20210993 100129354 ABBA01024708;AC094020;AMYH02006678;BX117367;NR_024046 Hs.201522 APPROVED pseudo HGNC:19337 VALIDATED 68493 NR5A1 nuclear receptor subfamily 5, group A, member 1 The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008] 9 9 9 q33 97890732 97916915 - 127243515 127269769 - 124481232 124507487 - 1598967;1580863;6480464;7240710;8554872;8699517 11932325 10230405;10369247;10369682;10446911;10478848;10567391;10628748;10684809;10848616;10919277;11038323;11071856;11459805;11479297;11518799;11574675;11592817;11713202;11738790;11886523;11897684;11932209;12083805;12083815;12101186;12161505;12477932;12554773;12651892;12727988;12730328;12732652;12782406;12843196;12861022;12907682;12917325;12920234;14555713;14580722;14623279;14701856;14702039;14963109;15044589;15192080;15261303;15379426;15388788;15471945;15472171;15489334;15546904;15579738;15579739;15666825;15707893;15831526;15879363;15897460;16127213;16469813;16488887;16500365;16564598;16595694;16684822;16709599;16816804;16834661;16887917;17190602;17226773;17331471;17474147;17488792;17519303;17520059;17664281;17694559;17761949;17786540;17901130;17940071;17975261;18165439;18182853;18579725;18653709;18665078;18824868;18974272;18984668;19001523;19022561;19237537;19246354;19322201;19439508;19549922;19692572;19849982;19875956;19878766;19930843;20026603;20045459;20080844;20133449;20207836;20211142;20301714;20302644;20394914;20453312;20498720;20601698;20660055;20861607;20875752;20887963;21078366;21081692;21087664;21111025;21129436;21163476;21163858;21164257;21239516;21242195;21324456;21412441;21467194;21654157;21693691;21775434;21926385;22024498;22028768;22100173;22218443;22427816;22474171;22549935;22553814;22715467;22832114;22907560;22927646;22951804;23044873;23095176;23096908;23153500;23154282;23158211;23218904;23291911;23299922;23313103;23471216;23543655;23610160;23637637;23650189;23729601;23899549;23918653;23969951;24012099;24076780;24405868;24591553;24635384;24905461;7479914;7629233;7789992;8205615;8806624;8964846;9002548;9183568;9238716;9328345;9590178;9774680 2516 F1D8R8;Q13285;Q5T6F6;Q5T6F7 AB009577;AB307718;ABBA01043749;ABBA01043750;AK090858;AL137846;AL354979;AMYH02021627;AMYH02021628;AY542548;BC032501;CH471090;D88155;HQ692856;HQ709184;NG_008176;NM_004959;U32592;U76388;XM_005251871;XM_005251872;XM_005251873 AAA75332;AAB53105;AAH32501;AAS48621;ABZ92004;ADZ15404;ADZ17367;ADZ17391;BAA13546;BAB18655;BAH02309;EAW87591;NP_004950;Q13285;XP_005251928;XP_005251929;XP_005251930 Hs.495108 AD4BP;ELP;FTZ1;FTZF1;POF7;SF-1;SF1;SPGF8;SRXY3;STF-1 OTTHUMP00000022104;adrenal 4 binding protein;adrenal 4-binding protein;fushi tarazu factor homolog 1;nuclear receptor AdBP4;steroid hormone receptor Ad4BP;steroidogenic factor 1;steroidogenic factor 1 nuclear receptor;steroidogenic factor-1 APPROVED protein-coding ENSG00000136931 HGNC:7983 01702 184757;612964;612965;613957 REVIEWED 7175172 NRBF2P1 nuclear receptor binding factor 2 pseudogene 1 18 18 18 q12.2 30229496 30231340 + 33421545 33423389 + 35841581 35843425 + 648532 ABBA01022443;AC090229;AMYH02034556;NG_006647 pseudo HGNC:44604 INFERRED 7175200 NRBF2P2 nuclear receptor binding factor 2 pseudogene 2 3 3 3 p 46001966 46003765 + 46064604 46066403 + 46023112 46024911 + 100114903 ABBA01024719;AC099782;AC133140;AMYH02006668;NG_006645 1735260;1792064 D3S2919E;PMC135988P13 pseudo HGNC:44605 INFERRED 68499 NR5A2 nuclear receptor subfamily 5, group A, member 2 ENCODES a protein that exhibits DNA binding; phospholipid binding; sequence-specific DNA binding; INVOLVED IN positive regulation of transcription, DNA-templated; positive regulation of viral genome replication; regulation of transcription, DNA-templated; PARTICIPATES IN maturity onset diabetes of the young pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 q32.1 173119461 173269192 + 199996730 200146552 + 200027602 200177424 + 1580863;6480464;6907045;8554872 10359768;11030332;11564608;11595170;11668176;11927588;12040021;12198243;12208674;12477932;12820970;12852843;12853459;12972592;14671206;14701856;14728801;14963109;15117876;15121760;15143151;15143342;15181096;15205472;15218078;15327767;15604093;15613430;15707893;15723037;15897460;15923626;15963945;16091743;16271724;16282330;16289203;16439367;16450584;16469397;16712791;17036045;17095585;17522048;17664281;17895379;17910058;17952562;17977826;18029348;18191017;18270374;18385139;18410128;18508634;18665078;19015525;19022561;19264593;19359379;19629617;19692572;19913121;20101243;20133449;20159957;20375098;20379614;20516075;20607599;20628086;20811994;20817789;21129436;21258413;21262773;21392518;21536586;21554248;21566081;21614002;21949357;21990348;22048972;22125638;22187462;22359603;22504882;23000165;23038264;23128233;23471216;23537609;23637637;23667258;23737522;23817023;23975195;24520076;24564400;24769073;7680097;8938589;9786908;9858833 2494 E9PQH2;F1D8R9;H0Y328;H0Y7S7;O00482;Q9UEC0 AB019246;AB307719;ABBA01027556;ABBA01027557;AC096633;AF049102;AF112344;AF124247;AF124248;AF146343;AF190464;AF228413;AF319643;AK304344;AK304365;AK308446;AK316513;AMYH02002453;AMYH02002454;AMYH02002455;AMYH02002456;BC027893;BC118571;BC118652;CA776772;CB162803;CH471067;HQ692857;NM_001276464;NM_003822;NM_205860;U80251;U93553;XM_005245061;XM_005245062 AAC78727;AAD03155;AAD03248;AAD26565;AAD26566;AAD37378;AAG17124;AAG17125;AAI18572;AAI18653;AAL37171;ADZ17368;BAA34092;BAG65188;BAG65205;BAH02310;BAH14884;EAW91305;EAW91306;EAW91307;EAW91308;NP_001263393;NP_003813;NP_995582;O00482;XP_005245118;XP_005245119 Hs.33446 1334833;1337512;1645535;1689985;1723215;1793056;1848312;2124189;2131393;2156702;2178444;5093732 A009V39;AFM292vd5;D1S2622;D1S2817;G30215;G32891;PMC193920P3;RH122291;RH94232;SHGC-76105;SHGC-76109;SHGC-76125 B1F;B1F2;CPF;FTF;FTZ-F1;FTZ-F1beta;LRH-1;LRH1;hB1F;hB1F-2 CYP7A promoter-binding factor;OTTHUMP00000033644;OTTHUMP00000033646;alpha-1-fetoprotein transcription factor;b1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virus;fetoprotein-alpha 1 (AFP) transcription factor;hepatocytic transcription factor;hepatocytic transcription factor hB1F-3;liver nuclear receptor homolog-1 variant 2;liver receptor homolog 1;liver receptor homolog-1;nuclear receptor NR5A2;nuclear receptor subfamily 5 group A member 2 protein-coding ENSG00000116833 HGNC:7984 06830 604453 VALIDATED 7175486 NRBF2P3 nuclear receptor binding factor 2 pseudogene 3 1 1 1 p13.3 109637198 109638697 - 111390195 111391694 - 110847583 110849072 - 643232 ABBA01068394;AL354713;AMYH02001726;NG_006643 1778440 AL009922 pseudo HGNC:44606 INFERRED 7176959 NRBF2P4 nuclear receptor binding factor 2 pseudogene 4 8 8 8 q23.1 105181795 105183592 + 108995197 108996994 + 107982969 107984766 + 728381 ABBA01037700;AC025508;AMYH02018585;AP003479;NG_006642 pseudo HGNC:44607 INFERRED 7176761 NRBF2P5 nuclear receptor binding factor 2 pseudogene 5 10 10 10 p 5748178 5751118 + 5817797 5820737 + 5775834 5778774 + 100118954 ABBA01034771;AL596094;AMYH02022046;NG_006646 pseudo HGNC:44683 INFERRED 732227 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011] 5 5 5 q31.3 138738770 138896297 - 142657496 143113322 - 143277931 143733756 - 61055;1580790;1331525;1580863;1601498;2308941;4892115;4892123;4892205;4892118;4892117;4892120;4892208;4892206;4892201;4892330;4892564;4892331;4892333;4892609;4892318;4892608;4892328;4892317;4892567;4892594;4892568;4892311;4892566;4892593;4892607;4892316;4892319;4892561;5144125;5686336;5686299;6480464;5686290;5490118;5686281;6484113;7174722;7174719;7174718;7174721;7174715;7174713;7174712;7174717;7174727;7174729;7174733;7174735;7174741;7174716;7174723;7174714;7174728;7174734;7174711;7174720;7240710;8699517;8554872 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2908 B7Z7I2;D6RDA9;E5KQF5;E5KQF6;F1D8N4;P04150;Q3MSN4 AA737284;AB307716;ABBA01026362;ABBA01026363;AC004782;AC005601;AC008696;AC010229;AC010284;AC016598;AC091925;AF304129;AF395116;AJ877166;AJ877167;AJ877168;AJ877169;AJ877170;AJ877171;AJ877172;AJ888004;AK223594;AK302050;AK314789;AM183262;AMYH02012376;AY436590;BC015610;BF244382;BF966114;BX640610;BX648553;CA425706;CH471062;CS542423;EU332858;FB571449;FB571451;FB571453;FB571455;FB571457;FB571459;FB571461;HQ205546;HQ205547;HQ205548;HQ205549;HQ205550;HQ205551;HQ205552;HQ205553;HQ205554;HQ205555;HQ205556;HQ205557;HQ205558;HQ205559;HQ205560;HQ205561;HQ205562;HQ205563;HQ205564;HQ205565;HQ205566;HQ205567;HQ205568;HQ205569;HQ205570;HQ205571;HQ205572;HQ205573;HQ205574;HQ205575;HQ205576;HQ205577;HQ205578;HQ205579;HQ205580;HQ205581;HQ205582;HQ205583;HQ205584;HQ205585;HQ450643;HQ450644;HQ692822;JN797823;JN797824;KC877128;M69104;NG_009062;NM_000176;NM_001018074;NM_001018075;NM_001018076;NM_001018077;NM_001020825;NM_001024094;NM_001204258;NM_001204259;NM_001204260;NM_001204261;NM_001204262;NM_001204263;NM_001204264;NM_001204265;S68378;U01351;U25029;U80946;U80947;X03225;X03348;XM_005268419;XM_005268420;XM_005268421;XM_005268422;XM_005268423 AAA16603;AAA16604;AAA88049;AAB20466;AAB64353;AAB64354;AAC34207;AAD14820;AAH15610;AAQ97180;ABY87547;ABZ92006;ADP91134;ADP91135;ADP91136;ADP91137;ADP91138;ADP91139;ADP91140;ADP91141;ADP91142;ADP91143;ADP91144;ADP91145;ADP91146;ADP91147;ADP91148;ADP91149;ADP91150;ADP91151;ADP91152;ADP91153;ADP91154;ADP91155;ADP91156;ADP91157;ADP91158;ADP91159;ADP91160;ADP91161;ADP91162;ADP91163;ADP91164;ADP91165;ADP91166;ADP91167;ADP91168;ADP91169;ADP91170;ADP91171;ADP91172;ADP91173;ADP91174;ADP91175;ADP91176;ADP91177;ADP91178;ADP91179;ADP91180;ADP91181;ADP91182;ADP91183;ADP91184;ADP91185;ADP91186;ADP91187;ADP91188;ADP91189;ADP91190;ADP91191;ADP91192;ADP91193;ADP91194;ADP91195;ADP91196;ADP91197;ADP91198;ADP91199;ADP91200;ADP91201;ADP91202;ADP91203;ADP91204;ADP91205;ADP91206;ADP91207;ADP91208;ADP91209;ADP91210;ADP91211;ADP91212;ADP91213;ADP91214;ADP91215;ADP91216;ADP91217;ADP91218;ADP91219;ADP91220;ADP91221;ADP91222;ADP91223;ADP91224;ADP91225;ADP91226;ADP91227;ADP91228;ADP91229;ADP91230;ADP91231;ADP91232;ADP91233;ADP91234;ADP91235;ADP91236;ADP91237;ADP91238;ADP91239;ADP91240;ADP91241;ADP91242;ADP91243;ADP91244;ADP91245;ADP91246;ADP91247;ADP91248;ADP91249;ADP91250;ADP91251;ADP91252;ADP91253;ADZ17333;AED99114;AED99115;AFA52009;AFA52010;BAD97314;BAH02307;BAH13618;CAA26976;CAA27054;CAE45716;CAI46893;CAI46894;CAI46895;CAI46896;CAI46897;CAI46898;CAI46899;CAI59612;CAJ65924;CAM91161;CAR95142;CAR95143;CAR95144;CAR95145;CAR95146;CAR95147;CAR95148;EAW61870;EAW61871;EAW61872;EAW61873;NP_000167;NP_001018084;NP_001018085;NP_001018086;NP_001018087;NP_001018661;NP_001019265;NP_001191187;NP_001191188;NP_001191189;NP_001191190;NP_001191191;NP_001191192;NP_001191193;NP_001191194;P04150;XP_005268476;XP_005268477;XP_005268478;XP_005268479;XP_005268480 Hs.122926 1649599;1661680;1693292;1701214;1729005;1748833;1749335;1770311;1771053;1780564;1780688;1789132;1794884;1796422;2118811;2129642;2132734;2166900 D5S1871;D5S2378;D5S2472;G42349;G65702;L31444;NR3C1_1004;Nr3c1;PMC64995P2;RH104235;RH16558;RH68907;SHGC-110504;SHGC-111096;SHGC-58162;STS-U25029;bac51148T;bac51616T GCCR;GCR;GCRST;GR;GRL OTTHUMP00000160084;OTTHUMP00000160085;OTTHUMP00000222851;OTTHUMP00000222854;OTTHUMP00000222855;OTTHUMP00000222858;glucocorticoid nuclear receptor variant 1;glucocorticoid receptor;nuclear receptor subfamily 3 group C member 1;nuclear receptor subfamily 3 group C member 1 variant DL-1;nuclear receptor subfamily 3 group C member 1 variant NS-1;nuclear receptor subfamily 3, group c, member 1 2289514;2289517 BW455_H;BW456_H APPROVED protein-coding ENSG00000113580 HGNC:7978 00679 138040;615962 REVIEWED 1346110 NRBF2 nuclear receptor binding factor 2 INVOLVED IN gene expression (inferred); regulation of transcription, DNA-templated (inferred); transcription initiation from RNA polymerase II promoter (inferred); FOUND IN cytoplasm; INTERACTS WITH cobalt dichloride; cyclosporin A; phenobarbital 10 10 10 q21.3 58160328 58182105 + 64893007 64914786 + 63133247 63155031 + 61677;1580863;6480464 10786636 11230166;11256614;12477932;14702039;15489334;15610520;17207965;20098747;20368287;20562859;22001757;24026423;24785657;24816145;7566098;8125298 29982 Q96F24 ABBA01019496;AF267866;AK054957;AK225256;AK225257;AK301656;AL136656;AL590502;AMYH02023200;AU310836;AY267839;AY267840;BC001345;BC011707;CH471083;DB522359;NM_001282405;NM_030759;XM_006717810 AAG44735;AAH11707;AAP03081;AAP03082;ACE86858;ACE87545;ADQ31828;BAB70833;BAG63132;CAB66591;EAW54240;EAW54241;NP_001269334;NP_110386;Q96F24;XP_006717873 Hs.449628 1735260;2110605;2170243;5124988;5125011 D10S2278;D3S2919E;NRBF2_9622;RH64711;RH91167 COPR1;COPR2;DKFZp564C1664;FLJ30395;NRBF-2 OTTHUMP00000019676;comodulator of PPAR and RXR;comodulator of PPAR and RXR 1;comodulator of PPAR and RXR 2;nuclear receptor binding factor-2;nuclear receptor-binding factor 2 protein-coding ENSG00000148572 HGNC:19692 11401 VALIDATED 1354113 NRBP1 nuclear receptor binding protein 1 ENCODES a protein that exhibits protein homodimerization activity (ortholog); INVOLVED IN ER to Golgi vesicle-mediated transport; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN endomembrane system; INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; genistein 2 2 2 p23 27497648 27511300 + 27651473 27665126 + 27428606 27442259 + 6480464;8554872 1048605;10843813;11230166;11956649;12176995;12477932;14702039;15084397;15345747;15489334;15815621;16169070;16189514;16964243;17052710;17353931;18187417;18976975;21139048;21382349;21890473;21900206;22473923;22510880;22863883;23000965;23505323;24250222;24372240;24447338;24816145;8125298 29959 C9JDW7;C9JHZ6;F8W6G1;Q9UHY1 ABBA01045208;AC074117;AF113249;AK001946;AK027538;AK092860;AK122664;AK130619;AK223136;AK225540;AK301345;AL136682;AMYH02003478;AMYH02003479;AX877871;BC001221;BQ225378;BQ949042;CH471053;NM_013392;XM_005264274;XM_006711999 AAF21967;AAH01221;AAY14847;ABM86741;ABW03817;BAA91993;BAB55185;BAD96856;BAG53652;BAG62893;CAB66617;CAE89912;EAX00578;EAX00579;EAX00580;NP_037524;Q9UHY1;XP_005264331;XP_006712062 Hs.515876 1734984;2136586 D2S1725E;RH47842 BCON3;FLJ27109;FLJ35541;MADM;MUDPNP;NRBP OTTHUMP00000123427;OTTHUMP00000123428;OTTHUMP00000200794;multiple domain putative nuclear protein;myeloid leukemia factor 1 adaptor molecule;nuclear receptor binding protein;nuclear receptor-binding protein protein-coding ENSG00000115216 HGNC:7993 05819 606010 VALIDATED 1351329 NRBP2 nuclear receptor binding protein 2 ENCODES a protein that exhibits ATP binding (inferred); protein kinase activity (inferred); INVOLVED IN negative regulation of macroautophagy; negative regulation of neuron apoptotic process (ortholog); neuron differentiation (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH aflatoxin B1; arsane; arsenic atom 8 8 8 q24.3 141228817 141236205 - 144915755 144924200 - 143830717 143842028 - 6480464 12477932;14702039;15489334;15498874;18619852 340371 D3DWK9;E9PR11;H0YCB1;Q9NSY0 ABBA01005239;AC105049;AC234917;AF318376;AI094905;AK094017;AK293943;AK308967;AL137662;AL834530;AMYH02018948;AMYH02018949;AY277601;BC037396;BC071605;BC113873;BC114481;CH471162;CR457350;NM_178564;XM_005250902;XM_005250903;XM_005250904;XM_005250905;XM_006716551;XM_006716552 AAI13874;AAL55883;AAQ18040;BAG52798;BAG57320;CAB70864;CAD39186;CAG33631;EAW82178;EAW82179;EAW82180;EAW82181;EAW82182;EAW82183;NP_848659;Q9NSY0;XP_005250959;XP_005250960;XP_005250961;XP_005250962;XP_006716614;XP_006716615 Hs.521926 5019064 G44304 DKFZp434P086;MGC138699;TRG16;pp9320 OTTHUMP00000228657;nuclear receptor-binding protein 2;transformation-related protein 16 protein-coding ENSG00000185189 HGNC:19339 14838 615563 VALIDATED 1315517 NRAP nebulin-related anchoring protein ENCODES a protein that exhibits actin binding (ortholog); muscle alpha-actinin binding (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN fascia adherens (ortholog); muscle tendon junction (ortholog); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; fonofos 10 10 10 q24-q26 109076182 109151224 - 115348583 115423829 - 113588824 113664070 - 6480464;8554872 10320340;11076863;11230166;12477932;12692149;12789664;14702039;15164054;15489334;15489336;15967462;16344560;16381901;16385451;19616115;20379614;20808825;8681137;9295142;9339382 4892 B1ANW7;Q86VF7 ABBA01062992;AF542553;AK056605;AK056969;AK096875;AK096886;AL390197;AL831980;AL832025;AL832330;AL832457;AMYH02023840;AMYH02023841;AY081943;AY177620;AY177621;BC005933;BC017866;BC058825;BC070130;BC126407;BC143751;BX640682;BX640730;BX641052;BX647658;CH471066;DA564310;F30818;NM_001261463;NM_006175;NM_198060;U96486;XM_005269864;XM_005269865;XM_005269867;XM_006717870 AAC51786;AAH05933;AAH17866;AAH58825;AAH70130;AAI26408;AAI43752;AAL99185;AAO47073;AAO47074;AAQ09536;BAB71231;BAB71328;BAC04884;BAG53387;CAD38623;CAD89899;CAD89910;CAD89998;CAE45811;CAE45846;CAE46027;CAL37520;CAL38225;CAL38407;CAL38670;EAW49499;EAW49500;EAW49501;EAW49502;EAW49503;EAW49504;NP_001248392;NP_006166;NP_932326;Q86VF7;XP_005269921;XP_005269922;XP_005269924;XP_006717933 Hs.268788 1722027;1727355;1752227;1779412;1782126;2122710;2133331;2155017;2158680;2178400;2182401;2219114;5014506 A007I48;D10S2159;G17458;G59900;G63085;HABP2__6689;RH65730;RH70383;SHGC-106161;SHGC-153403;SHGC-155296;STS-N38956;WIAF-1676 N-RAP OTTHUMP00000020502;OTTHUMP00000020504;nebulin-related-anchoring protein protein-coding ENSG00000197893 HGNC:7988 04189 602873 VALIDATED 732028 NR4A2 nuclear receptor subfamily 4, group A, member 2 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q22-q23 150794299 150802639 - 157180944 157189287 - 156324432 156332775 - 1358553;1580863;6480464;8554872 11914402 10216261;10216262;11803525;11840500;11884470;11959923;12477932;12496759;12564761;12627459;12694388;12756136;12774125;12815740;12827450;12852843;12875905;14525795;14559918;14671317;14988426;15018843;15184637;15197702;15211629;15276233;15292355;15390059;15450088;15486232;15489334;15548686;15604093;15635645;15635701;15961999;15964844;16223362;16293616;16320253;16344560;16477036;16532445;16806233;16873729;16977628;17032747;17043312;17081983;17184956;17283078;17427185;17574328;17671512;17681692;17728669;18057194;18195715;18242186;18292087;18463503;18577687;18583979;18684475;18937842;18976975;19065535;19074857;19144721;19156841;19224617;19322201;19352218;19429166;19453261;19494806;19549529;19569046;19570744;19671681;19692620;19732956;19861119;19913121;20016108;20049900;20195357;20301387;20301402;20339536;20421523;20560679;20628086;20659174;20829434;21102462;21299892;21468021;21480782;21621845;21757690;21826669;21936000;21979916;22024154;22066143;22143616;22230598;22275273;22294735;22309633;22514272;22764233;22789442;22800541;22827504;23066323;23283970;23333304;23358114;23416839;23517088;23679312;23809767;23821160;23933487;23950896;23977047;24005216;24086717;24223135;24685177;24852325;7705655;7706727;7758108;7877627;8125298 4929 C9IYM5;C9J8W4;C9JWQ1;E9PBQ4;F1D8N6;F8W6I3;H7BZ00;P43354;Q53EL4 AB017586;AB019433;ABBA01004829;AC074099;AK223625;AK291456;AK299439;AK309786;AMYH02005029;BC009288;BC066890;BM922519;CH471058;DA093733;FJ643484;FJ643485;HI574334;HI574340;HQ692824;HQ709176;NG_011821;NM_006186;S77154;X75918;XM_005246621;XM_005246622;XM_005246623;XM_006712553;XR_427087 AAB33999;AAH09288;AAH66890;AAY24203;ACE87072;ACE87753;ACN32470;ACN32471;ADZ17335;ADZ17383;BAA75666;BAA77328;BAD97345;BAF84145;BAH13033;CAA53518;CBX47656;CBX47659;EAX11454;EAX11455;NP_006177;P43354;XP_005246678;XP_005246679;XP_005246680;XP_006712616 Hs.563344 1646178;1791428;2150793;5017925 D2S2729;G15958;Nr4a2;PMC109903P2 HZF-3;NOT;NURR1;RNR1 NGFI-B/nur77 beta-type transcription factor homolog;OTTHUMP00000162787;OTTHUMP00000204451;OTTHUMP00000204707;OTTHUMP00000209445;OTTHUMP00000209447;OTTHUMP00000209457;OTTHUMP00000209459;T-cell nuclear receptor NOT;TINUR;immediate-early response protein NOT;intermediate-early receptor protein;nuclear receptor related 1;nuclear receptor subfamily 4 group A member 2;nur related protein-1, human homolog of;orphan nuclear receptor NR4A2;orphan nuclear receptor NURR1;transcriptionally inducible nuclear receptor related 1;transcriptionally-inducible nuclear receptor APPROVED protein-coding ENSG00000153234 HGNC:7981 03493 601828 REVIEWED 6481421 NREP-AS1 NREP antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 5 5 111248205 111353003 + 111912508 112017306 + 8554872 100873948 ABBA01069063;ABBA01069064;AC025182;AC025450;AMYH02011972;BX114072;HG498329;NR_046678 Hs.147716 APPROVED ncrna ENSG00000250095 HGNC:40780 VALIDATED 735648 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011] 1 1 1 p13.2 113476335 113488757 - 115247085 115259515 - 114704464 114716894 - 1580863;2314838;2314837;1598680;2303822;2300006;2314836;6480464;5686410;6484113;6907045;7240710;8554872;8699517 11295286;14984964;17708355;18334737;18706093;19303097;22177953 10412982;10490827;10655059;10712923;10783161;10882715;10918068;11136978;11332726;11520933;11524732;11948427;12082607;12230495;12393454;12477932;12483530;12637339;12727991;12783933;12808105;14688017;14695152;14737077;14961576;15060167;15474158;15489334;15531466;15674343;15688405;15705808;15761153;15766527;16000296;16076867;16098042;16135812;16142319;16169070;16344560;16462768;16573741;16737746;16761621;16845322;16847854;1692298;17036375;17056636;17119447;17297468;17332249;17507627;17517660;17550846;17671710;17712732;17786355;17893876;17900235;17910045;17943694;17949898;17960171;18000091;18006851;18008004;18227705;18310288;18316586;18316589;18323787;18375819;18450602;18559876;18567617;18615679;18624398;18632627;18641128;18667611;18668139;18701506;18760455;18781797;18788612;18814281;18945298;18980976;19037234;19047918;19101897;19190079;19309322;19319568;19322201;19351817;19383313;19460752;19487299;19492075;19633643;1970154;19705759;19718661;19759551;19765726;19789336;19802003;19819220;19833857;19865112;19874312;19913121;19946888;19954345;19966803;20012784;20056178;20098682;20140953;20147298;20150643;20157749;20192584;20237506;20301303;20371679;20379614;20392691;20520634;20526288;20619739;20628086;20678218;20680410;20703244;20713885;20720566;20726318;20736745;20815269;20824703;20860430;20880116;20881644;20975100;21072204;21107323;21131919;21134978;21139048;21166657;21168197;21200020;21209378;21263000;21283084;21305640;21358716;21430505;21586752;21595878;21615881;21750866;21757746;21788131;21796448;21809347;21906983;21908617;21963094;21987572;21988832;22020736;22120021;22123847;22130161;22180178;22199277;22407852;22427190;22456166;22589270;22614978;22650231;22753870;22758774;22773810;22809251;22820081;22887781;22912864;22926523;22931913;22939629;22974165;22983396;22997201;23000456;23000965;23076151;23096702;23153525;23201159;23233531;23240926;23262097;23303902;23313659;23362874;23392294;23403319;23423222;23448684;23477374;23496764;23515407;23536553;23538902;23633454;23664541;23667841;23673558;23687087;23708912;23758196;23771122;23774633;23782496;23795354;23833303;23855428;23860532;23861977;23922205;23987572;23993026;24006476;24006859;24018645;24024839;24129063;24166518;24189344;24222113;24335104;24583282;24586049;24588908;24610751;24737308;24802725;25015289;25204082;2661017;2991860;2998510;3057505;3102434;3276402;3295562;3856237;3887133;6086315;6587382;6616621;7789166;7820549;7829101;7972015;8280380;8493579;8607982;8665852;9069260;9069267;9269777;9297626;9344703;9488663;9578425;9674433;9690470 4893 P01111;Q5U091 ABBA01068467;AF493919;AL096773;AMYH02001784;AW021410;AY428630;AY941100;AY941101;BC005219;BC013214;BT019734;BT019735;CH471122;DA007844;EU332857;HD032933;JC006861;K03211;L00043;M25898;NG_007572;NM_002524;S68580;X00642;X00643;X00644;X00645;X02751;X05564;X05565;X07440;X53291 AAA36548;AAA36556;AAA60255;AAB29639;AAH05219;AAM12633;AAQ94397;AAV38539;AAV38540;ABY87546;CAA25269;CAA25270;CAA25271;CAA25272;CAA26529;CAA29078;CAA29079;CAA30320;CAA37384;CBV35642;CDL93481;EAW56608;EAW56609;EAW56610;EAW56611;NP_002515;P01111 Hs.486502 1677610;1741009;1741051;1741163;1772534;1793774;1850348;2123368;2143778;2174814;2181601;5113681 D1S3316;G20630;GDB:177368;GDB:177539;GDB:178391;PMC28413P1;RH17093;RH64700;RH64875;SHGC-32741;WI-17660;WI-21546 ALPS4;CMNS;N-ras;NCMS;NRAS1;NS6 GTPase NRas;N-ras protein part 4;OTTHUMP00000013879;transforming protein N-Ras;v-ras neuroblastoma RAS viral oncogene homolog APPROVED protein-coding ENSG00000213281 HGNC:7989 01273 114500;137550;162900;164790;188470;249400;613224;614470 REVIEWED 5684144 NRG1-IT1 NRG1 intronic transcript 1 (non-protein coding) 8 p12 32025736 32139477 + 100856811 AA394309;ABBA01023633;AC021909;AC022850;AMYH02017744;AMYH02017745;AMYH02017746;AMYH02017747;BC037250;BU567364;HG501040;HY002956;HY047999;NG_012005;NR_104156;NR_104157;NR_104158 Hs.97362 RP11-275E10.1 ncrna HGNC:43633 VALIDATED 6481115 NRG1-IT2 NRG1 intronic transcript 2 (non-protein coding) 100874285 AC022850;AC023948 ncrna HGNC:43634 6481117 NRG1-IT3 NRG1 intronic transcript 3 (non-protein coding) 8 8 32298262 32300241 + 32440746 32442725 + 100874286 ABBA01023628;AC068359;AMYH02017752;BX111416;HG501044;NR_047475 Hs.147060 RP11-468C1.1 ncrna HGNC:43635 PREDICTED 731928 NRD1 nardilysin (N-arginine dibasic convertase) This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 1 1 1 p32.2-p32.1 50541402 50631711 - 52254864 52344609 - 51789192 51878937 - 729085;1580863;6480464;8554872 9581555 11042131;11432822;11478915;12095415;12463163;12477932;12590613;14702039;15385968;15489334;15544571;16061636;16344560;16710414;16923819;17442499;18355445;18362890;18781797;19118164;19615732;19797269;20877624;21139048;21151101;21703634;21801775;21890473;21906983;21972134;22174317;22294699;22351606;22653443;22863883;22939629;23000965;23219461;23604405;24168165;24816145;9479496 4898 B1AKJ5;F5H7V1;G3V1R5;H0Y5G9;O43847;Q6UUU9 ABBA01074785;ABBA01074786;ABBA01074787;ABBA01074788;AJ000350;AK055516;AK299271;AK302616;AK311631;AK312318;AL050343;AL589663;AMYH02001002;AMYH02001003;AMYH02001004;AY049784;AY360265;BC008775;CA422553;CH471059;DA245717;DA756064;DB084774;KF495940;NG_029171;NM_001101662;NM_001242361;NM_002525;U64898;X93207;X93209;XM_005270903 AAC39597;AAH08775;AAL15441;AAQ63406;BAG61292;BAG63862;CAA04025;CAA63693;CAA63694;CAA63697;CAA63698;EAX06804;EAX06805;EAX06806;EAX06807;EAX06808;EAX06809;NP_001095132;NP_001229290;NP_002516;O43847;XP_005270960 Hs.584782 1340746;1663238;1670096;1696444;1719747;1763843;2112370;2133238;2162202;2171081;5092926 A009C22;D19S901;D1S3636;G32416;HSC20B072;RH11811;RH123564;SHGC-147508;SHGC-64045;SHGC-74810;SHGC-79752 NRD-C;hNRD1;hNRD2 N-arginine dibasic convertase;NRD convertase;OTTHUMP00000009987;OTTHUMP00000010037;nardilysin APPROVED protein-coding ENSG00000078618 HGNC:7995 04036 602651 REVIEWED 1351571 NREP neuronal regeneration related protein INVOLVED IN axon regeneration (inferred); regulation of neuron differentiation (inferred); regulation of transforming growth factor beta receptor signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; (R)-pantothenic acid; 1-chloro-2,4-dinitrobenzene 5 5 5 q22.1 107010594 107258308 - 111065000 111312628 - 111729303 111976931 - 6480464;8554872 10660586;10981724;12417574;12477932;14702039;15146197;15485502;15489334;16169070;16229809;16344560;16484684;18029348;18664493;19322201;19460752;20404911;20889312;21029697;21109781;21900206;22490543;22967977;23251661;8261136 9315 D6R982;D6R9Y7;D6REJ5;D6RIC9;Q16612 ABBA01069064;ABBA01069065;ABBA01069066;ABBA01069067;ABBA01069068;AC022108;AC025182;AC025450;AC114297;AF119859;AK021624;AK298779;AK307346;AK315617;AL547663;AMYH02011972;BC011050;BC019068;BC072013;BC072443;BX649051;CH471086;CN415439;DA027062;DA078027;DA490948;DA520221;DA526263;DA534424;DA683910;DA694580;DA704824;DA744980;DA752769;DA908653;DA939543;DC365764;FB659826;NM_001142474;NM_001142475;NM_001142476;NM_001142477;NM_001142478;NM_001142479;NM_001142480;NM_001142481;NM_001142482;NM_001142483;NM_004772;U30521;U36189;XM_006714732;XM_006714733 AAA74903;AAA93255;AAF69613;AAH11050;AAH19068;AAH72013;AAH72443;BAG37985;BAH12868;CAS01768;EAW49019;EAW49020;EAW49021;EAW49022;EAW49023;EAW49024;EAW49025;NP_001135946;NP_001135947;NP_001135948;NP_001135949;NP_001135950;NP_001135951;NP_001135952;NP_001135953;NP_001135954;NP_001135955;NP_004763;Q16612;XP_006714795;XP_006714796 Hs.36053;Hs.732682;Hs.745061 1648846;1650764;1657136;1677588;1712174;1763791;1776178;1785620;1785624;2151679;5108086;5115333;5124415;5124509 AFMA297ZF1;G19932;G54138;IB500;L28329;L31447;L31475;RH11566;RH11754;RH66861;SHGC-147464;SHGC-155955;SHGC-156034;STS-H60560 C5orf13;D4S114;P311;PRO1873;PTZ17;SEZ17 OTTHUMP00000159003;OTTHUMP00000222844;OTTHUMP00000222845;OTTHUMP00000222890;OTTHUMP00000222891;OTTHUMP00000222892;OTTHUMP00000222893;OTTHUMP00000222894;OTTHUMP00000222896;OTTHUMP00000222897;OTTHUMP00000222898;OTTHUMP00000222899;neuronal protein 3.1;neuronal regeneration related protein homolog;neuronal regeneration-related protein APPROVED protein-coding ENSG00000134986 HGNC:16834 09545 607332 VALIDATED 1606028 NRG2 neuregulin 2 This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010] 5 5 5 q23-q33 135301792 135498704 - 139226364 139422884 - 139846779 140043299 - 2317965;1304015;6480464;6484113;6907045;8554872 18519747;9348101 10369162;10974560;12477932;14722120;15961242;16344560;17563728;17598910;17945187;17962208;19086053;9168114;9168115;9199335;9417904 9542 F5GZS7;O14511 AB005060;ABBA01026440;ABBA01026441;ABBA01026442;ABBA01026443;AC008523;AC008667;AC010292;AC011379;AC094080;AF119157;AF119158;AF119162;AI271427;AK124504;AMYH02012324;AMYH02012325;BC103983;BC103984;BC114333;BC114334;CH471062;DA090538;NM_001184935;NM_004883;NM_013981;NM_013982;NM_013983;U92987;XM_005268533;XM_006714808;XM_006714809;XM_006714810 AAF28848;AAF28849;AAF28850;AAF28851;AAF28852;AAF28853;AAI03984;AAI03985;AAI14334;AAI14335;AAI66615;BAA23417;BAG54044;EAW62078;EAW62080;EAW62081;EAW62082;EAW62083;EAW62084;EAW62085;EAW62086;EAW62087;NP_001171864;NP_004874;NP_053584;NP_053585;NP_053586;O14511;XP_005268590;XP_006714871;XP_006714872;XP_006714873 Hs.408515 1670521;1780586;1780662;1780700;1780706;2153023 B290YC9;L28239;bac51301S;bac51539T;bac51651T;bac51688T DON1;Don-1;HRG2;NTAK OTTHUMP00000159546;OTTHUMP00000198728;OTTHUMP00000224194;OTTHUMP00000224196;OTTHUMP00000230686;divergent of neuregulin-1;neural- and thymus-derived activator for ErbB kinases;pro-NRG2;pro-neuregulin-2, membrane-bound isoform APPROVED protein-coding ENSG00000158458 HGNC:7998 04821 603818 REVIEWED 1346550 NRG3-AS1 NRG3 antisense RNA 1 10 10 q23.1 83985163 83992390 - 82224213 82232634 - 15197164;16344560;7566098 101929590 AA383013;ABBA01003780;AC010157;AMYH02023436;CF272718;CR737767;DB052745;DB082602;HG503090;NR_120666;XR_246148;XR_247546;XR_252778;XR_424150;XR_428777;XR_432611 Hs.733268 C10orf100;Em:AC010157.1 NRG3 antisense RNA 1 (non-protein coding) APPROVED ncrna HGNC:31429 VALIDATED 1606150 NRG4 neuregulin 4 The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342]).[supplied by OMIM, Mar 2008] 15 15 15 q24.2 53160233 53230688 - 76234314 76304785 - 75941973 76012444 - 2317965;6480464;6484113;6907045;8554872 18519747 10348342;12477932;15489334;15583696;17207965;17545517;17684490;17962208;19913121;20628086;21805036;23033483;23222517;23263486 145957 E9PJI7;H3BP63;Q0P6N6;Q7Z663;Q8WWG1 ABBA01060542;AC027104;AC087456;AK307362;AK311204;AK311507;AM392364;AM392365;AM392366;AMYH02030821;BC017568;BX538100;CH471136;CR749519;NM_138573 AAH17568;ADQ33202;CAD98015;CAH18333;CAL35829;CAL35830;CAL35831;EAW99227;EAW99228;NP_612640;Q8WWG1 Hs.732438 1644839;1748811;1753385 SGC31077;SHGC-107194;SHGC-110437 DKFZp779N0541;DKFZp779N1944;HRG4 OTTHUMP00000183575;heregulin 4;pro-NRG4;pro-neuregulin-4, membrane-bound isoform APPROVED protein-coding HGNC:29862 14871 610894 VALIDATED 1351142 NRDE2 NRDE-2, necessary for RNA interference, domain containing ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; copper(2+) sulfate; formaldehyde 14 14 14 q32.11 70791551 70845432 - 90744398 90798481 - 90278054 90332137 - 6480464;8554872 12477932;12508121;14702039;17353931;20834067;21139048;22118674;22505724;24457600;24816145 55051 G3V338;H0YJT0;H0YJT6;Q9H7Z3 ABBA01030502;ABBA01030503;AK000870;AK024113;AK094807;AK127843;AK294958;AL161662;AL832941;AMYH02029722;AMYH02029723;AW196499;BC008925;BC021805;BC033136;BC098568;BC109040;BC118673;BC122532;CH471061;DC393057;NM_017970;R54506;XM_006720186 AAH98568;AAI18674;BAA91404;BAB14830;BAG58032;CAH56334;EAW81422;EAW81423;EAW81424;EAW81425;NP_060440;Q9H7Z3;XP_006720249 Hs.528131 1654589;1677316;1847860;1858096;2115727;2130311;2131917;2146185;2154347;5014051;5015619;5021872;5022200;5022578;5022651 D11S2921;D11S3114;D1S1423;D8S2278;G30330;G35468;G35558;G35931;G36008;G36256;L18426;RH98490;STS-T96622;WI-15879;sY3084 C14orf102;FLJ10008;FLJ14051 OTTHUMP00000244901;UPF0614 protein C14orf102;hypothetical protein LOC55051;protein NRDE2 homolog APPROVED protein-coding HGNC:20186 12625 VALIDATED 731515 NRG1 neuregulin 1 The protein encoded by this gene is a membrane glycoprotein that that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Jun 2014] 8 8 8 p12 30430833 31581276 + 31496820 32622558 + 31639304 32765040 + 1580810;1581606;1580863;2317965;6480464;6484113;6907045;7240710;8554872 16085051;16155362;18519747 10372964;10523851;10537356;10559227;10585499;10597312;11116142;11389077;11555649;11896060;12082616;12145742;12204892;12471041;12477932;12478479;12509456;12528817;12556556;12600989;12646923;12768307;12800145;12808428;12874607;1348215;1350381;14569272;14632199;14647391;14699424;14702039;14729827;14966480;15007393;15073182;15155732;15159416;15162166;15197397;15219675;15248869;15276238;15303101;15326116;15466169;15489334;15494726;15498868;15527969;15538186;15545978;15584912;15609326;15645137;15703820;15897877;15939841;16082692;16158055;16189508;16219117;16219118;16249994;16287046;16326006;16344560;16412517;16428439;16442083;16446404;16470843;16483744;16520822;16526041;16618933;16638076;16687441;16690615;16730337;16767099;16825199;16867224;16868568;16891421;16940976;17033632;17072305;17214955;17275115;17300918;17336907;17336946;17366345;17405926;17408693;17432114;17447867;17499242;17503451;17519028;17562386;17565985;17598910;17602072;17631867;17652086;17884806;17901998;17903296;17925794;17941827;17962208;18032396;18159252;18180429;18193072;18198266;18234478;18255317;18282690;18286587;18291420;18395550;18455303;18455369;18466879;18466881;18470533;18494263;18494554;18497096;18516516;18543275;18571900;18583979;18584117;18585932;18606232;18668031;18704261;18714568;18728681;18798975;18799465;18806920;19054571;19058791;19086053;19127563;19148499;19150438;19156152;19184335;19196962;19199244;19229203;19269083;19306381;19328558;19339916;19350564;19367581;19367584;19394386;19439994;19448847;19449332;19497323;19521112;19545856;19556605;19569180;19573260;19575259;19594860;19597049;19626024;19644050;19652122;19659570;19733651;19736351;19782967;19797898;19801490;19802002;19913121;19913623;19937977;19965935;19967439;20036336;20061032;20102668;20182055;20215529;20218976;20227043;20371257;20374152;20379614;20427670;20435087;20472376;20497232;20520724;20526724;20580130;20582876;20625696;20628086;20638435;20671236;20682778;20736300;20800603;20921115;20926259;20927045;20978455;21035784;21041608;21057508;21127983;21234898;21239627;21246584;21247898;21283760;21368034;21371516;21437657;21467033;21512575;21546767;21555713;21576249;21653853;21706185;21716252;21745728;21792199;21840482;21858616;21865659;21965611;22019858;22027878;22042562;22052506;22158511;22183611;22200588;22209534;22216327;22226049;22226548;22249266;22249457;22267200;22350758;22377709;22378022;22378872;22414959;22424243;22425775;22467496;22494484;22504067;22520967;22563075;22574178;22590542;22613991;22739235;22790889;22832904;22886427;22891299;22944276;22968213;22974608;22999558;23032943;23035098;23104879;23148218;23213231;23247143;23253390;23301017;23308187;23328545;23360725;23399902;23400839;23408906;23468880;23480537;23489597;23524320;23572145;23590603;23625463;23632455;23739962;23870195;23934736;23937725;24044505;24083437;24097984;24112719;24123921;24152577;24309211;24324551;24872569;7509448;7514177;7556068;7592681;7689552;7721889;7730382;7782315;7876250;7903175;8062828;8095334;8096067;8125298;8325659;8702572;9168114;9168115;9333014;9342050;9553078;9565587;9685409 3084 A6MW55;A6MW56;B0FWZ3;B0FYA7;B0FYA8;B0FYA9;B7Z1D7;B7Z1E3;E5RHP6;E5RHQ1;E5RIG8;E7EX30;H0YBA3;H0YCP0;H0YDC2;Q02297;Q6PK61;Q7RTW3;Q7RTW5 AB451331;AB451475;ABBA01023619;ABBA01023620;ABBA01023621;ABBA01023622;ABBA01023623;ABBA01023624;ABBA01023625;ABBA01023626;ABBA01023627;ABBA01023628;ABBA01023629;ABBA01023630;ABBA01023631;ABBA01023632;ABBA01023633;ABBA01023634;ABBA01023635;AC021909;AC022833;AC022850;AC023948;AC068359;AC068931;AC083977;AC103675;AC104000;AC104029;AC113209;AF026146;AF176921;AF491780;AK097005;AK223435;AK289927;AK290730;AK293240;AK293270;AK298132;AMYH02017735;AMYH02017736;AMYH02017737;AMYH02017738;AMYH02017739;AMYH02017740;AMYH02017741;AMYH02017742;AMYH02017743;AMYH02017744;AMYH02017745;AMYH02017746;AMYH02017747;AMYH02017748;AMYH02017749;AMYH02017750;AMYH02017751;AMYH02017752;AMYH02017753;AMYH02017754;AMYH02017755;AY207002;BC006492;BC007675;BC064587;BC073871;BC144446;BC150609;BK000383;BQ018711;BT007389;CH471080;CN603652;CN603654;CR450288;DA805080;DC425692;EF372273;EF372274;EF372275;EF372276;EF372277;EF517295;EF517296;EF517297;EU359055;EU363508;EU363509;EU363510;GQ983557;GQ983558;KF458727;KF458729;KF458731;KF510317;KF510318;KF510319;KF511069;L12260;L12261;L41827;M94165;M94166;M94167;M94168;NG_012005;NM_001159995;NM_001159996;NM_001159999;NM_001160001;NM_001160002;NM_001160004;NM_001160005;NM_001160007;NM_001160008;NM_004495;NM_013956;NM_013957;NM_013958;NM_013959;NM_013960;NM_013962;NM_013964;S68256;U02325;U02326;U02327;U02328;U02329;U02330;XM_005273485;XM_005273486;XM_005273487;XM_006716335 AAA19950;AAA19951;AAA19952;AAA19953;AAA19954;AAA19955;AAA58638;AAA58639;AAA58640;AAA58641;AAB59358;AAB59622;AAC41764;AAD01795;AAH06492;AAH07675;AAH64587;AAH73871;AAI50610;AAM71137;AAM71139;AAM71140;AAO49724;AAP36053;AAQ13665;ABQ53539;ABQ53540;ABQ53541;ABQ53542;ABQ53543;ABR13842;ABR13843;ABR13844;ABY66348;ABY66349;ABY66350;ABY70644;ADN85612;ADN85613;BAD97155;BAF82616;BAF83419;BAG70145;BAG70289;BAH11473;BAH11479;BAH12729;CAG29284;DAA00040;DAA00041;DAA00042;DAA00043;DAA00044;DAA00045;DAA00046;DAA00047;DAA00048;EAW63407;EAW63408;EAW63409;EAW63410;EAW63411;EAW63412;EAW63413;EAW63414;EAW63415;EAW63416;EAW63417;EAW63418;EAW63419;NP_001153467;NP_001153468;NP_001153471;NP_001153473;NP_001153474;NP_001153476;NP_001153477;NP_001153479;NP_001153480;NP_004486;NP_039250;NP_039251;NP_039252;NP_039253;NP_039254;NP_039256;NP_039258;Q02297;XP_005273542;XP_005273543;XP_005273544;XP_006716398 Hs.453951;Hs.668810 1334647;1335208;1337317;1338275;1340037;1340154;1645631;1651054;1658237;1670384;1685704;1703448;1704680;1706516;1706736;1714113;1714709;1714777;1718177;1719721;1720427;1728039;1728377;1755623;1755897;1756121;1767862;1854962;2108685;2112348;2116126;2128671;2129250;2140921;2160623;2166863;5125664;7186601 AFMA143YG9;D8S1125;D8S1477;D8S1810;D8S2063;D8S2226;D8S278;D8S375;D8S499;G17227;G27359;G30982;G59016;G63290;G63471;HSC1IA022;L30054;RH11877;RH119663;RH120019;RH120054;RH122857;RH123550;RH35824;RH65488;RH98441;SHGC-12780;SHGC-142477;SHGC-142734;SHGC-142912;SHGC-78993;SHGC-80823;SHGC-81230;SHGC-82537;STS-Z40930;UniSTS:468010;WI-18803 ARIA;GGF;GGF2;HGL;HRG;HRG1;HRGA;MST131;NDF;NRG1-IT2;SMDF MSTP131;OTTHUMP00000225398;OTTHUMP00000225419;OTTHUMP00000225420;OTTHUMP00000225421;OTTHUMP00000225422;OTTHUMP00000225477;OTTHUMP00000225545;OTTHUMP00000230603;OTTHUMP00000230605;glial growth factor;heregulin, alpha (45kD, ERBB2 p185-activator);neu differentiation factor;neuregulin 1 type IV beta 1a;neuregulin 1 type IV beta 3;pro-NRG1;pro-neuregulin-1, membrane-bound isoform;sensory and motor neuron derived factor APPROVED protein-coding ENSG00000157168 HGNC:7997 00802 142445;603013 REVIEWED 1350542 NRIP2 nuclear receptor interacting protein 2 ENCODES a protein that exhibits aspartic-type endopeptidase activity (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); proteolysis (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm; INTERACTS WITH copper(2+) sulfate; silicon dioxide; aldehydo-D-glucose (ortholog) 12 12 12 p13.33 4548450 4558161 - 2934514 2944372 - 2825348 2835206 - 1580863;6480464 10860982;11076863;11230166;11256614;12477932;14702039;15489334;15489336;16344560;16381901;17075290;17332742;21988832 83714 F5H065;F5H2G5;Q9BQI9 ABBA01048800;AC005841;AK054740;AK098063;AK300944;AL136557;AMYH02025885;BC036063;BC131562;CH471116;DA391605;NM_031474;XM_005253796;XM_005253797;XM_005253798 AAH36063;AAI31563;BAG53573;BAG62573;CAB66492;CAL37962;EAW88888;NP_113662;Q9BQI9;XP_005253853;XP_005253854;XP_005253855 Hs.530816 DKFZp761G1913 OTTHUMP00000161189;nuclear receptor-interacting protein 2 protein-coding ENSG00000053702 HGNC:23078 14839 VALIDATED 1312415 NRIP3 nuclear receptor interacting protein 3 ENCODES a protein that exhibits aspartic-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH 17beta-estradiol; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; arsane 11 11 11 p15.3 9121783 9145262 - 9002123 9025596 - 8980576 9004049 - 6480464 11528127;12477932;12601173;14702039;15489334;16344560;17110338;17207965;19322201;19454493 56675 B7Z3Y4;E9PIW3;H0YCM9;H0YEG7;Q9NQ35 ABBA01061201;AC026894;AC079296;AJ400877;AK024750;AK093229;AK098694;AK296484;AMYH02024301;AMYH02024302;AY211930;BC008835;CH471064;DA249943;NM_020645 AAH08835;AAO65183;ADQ31903;BAB14984;BAH12370;CAB92286;EAW68604;NP_065696;Q9NQ35 Hs.523467 1675961;1675981;1782450;2129003;2219198;5014051;5015619;5037552;5090977 A006U43;D11S1019;D11S3114;D8S2278;D8S2279;NRIP3__6073;RH92003;RH99026;SHGC-155446 C11orf14;NY-SAR-105 OTTHUMP00000230732;nuclear receptor-interacting protein 3;sarcoma antigen NY-SAR-105 protein-coding ENSG00000175352 HGNC:1167 14840 613125 VALIDATED 1317640 NRG3 neuregulin 3 This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009] 10 10 10 q22-q23 77630757 78742147 + 83635070 84746935 + 81875314 82987179 + 2317965;6480464;6484113;6907045;8554872 18519747 11032326;12477932;14702039;15164054;16344560;16478787;17598910;17880691;17962208;18519826;18521091;18708184;18846501;19086053;19118813;19776380;19913121;20379614;20398908;20548296;20628086;20713722;21248748;21348951;21705454;21762460;22589734;22831755;22981155;23251661;23315268;23382691;23393555;24061483;24204828;24431462;9275162 10718 B3KVG8;B9EGV5;D9ZHP6;D9ZHP8;D9ZHP9;D9ZHQ2;D9ZHQ3;D9ZHQ5;D9ZHQ6;D9ZHQ7;D9ZHQ8;P56975;R4GNI6 AA704915;ABBA01003775;ABBA01003776;ABBA01003777;ABBA01003778;ABBA01003779;ABBA01003780;ABBA01003781;ABBA01003782;ABBA01003783;ABBA01003784;AC010157;AK098823;AK122886;AK296563;AL096705;AL096706;AL096863;AL096864;AL136085;AL354749;AL356129;AL358552;AL391478;AL513204;AL513316;AL589782;AMYH02023434;AMYH02023435;AMYH02023436;AMYH02023437;AMYH02023438;BC136811;BC143665;CH471142;DB326565;DQ001411;DQ338459;DQ857894;HM068873;HM068874;HM068875;HM068876;HM068877;HM068878;HM068879;HM068880;HM068881;HM068882;HM068883;HM068884;HM068885;NG_013373;NM_001010848;NM_001165972;NM_001165973;XM_005269444 AAI36812;AAY17216;ABC69293;ABG77979;ADK90020;ADK90021;ADK90022;ADK90023;ADK90024;ADK90025;ADK90026;ADK90027;ADK90028;ADK90029;ADK90030;ADK90031;ADK90032;BAG53780;BAG59183;EAW80374;NP_001010848;NP_001159444;NP_001159445;P56975;XP_005269501 Hs.125119 1338467;1340178;1645748;1654778;1657046;1657325;1675188;1675295;1682732;1706006;1710566;1714301;1714733;1715685;1717819;1730395;1736068;1739801;1751217;1751821;1755379;1760741;1770962;1771806;1774411;1782110;1850055;1850505;2119990;2131833;2138564;2138759;2141189;2161785;2173509;2180947;2184996;2185579;2186619;2217678;5091146;5093408;5113661 A009O11;D10S1343E;D10S1367E;D10S1455;D10S1620E;D10S1786;D10S2242;D10S228E;D10S246;D10S2475;D10S671;G32700;NRG3_3103;RH11310;RH119289;RH119931;RH120031;RH121820;RH46051;RH66478;RH68827;RH70340;RH70354;RH80120;RH93468;SHGC-105093;SHGC-105825;SHGC-142257;SHGC-144263;SHGC-154958;SHGC-30449;SHGC-33444;SHGC-33483;SHGC-34699;SHGC-35063;SHGC-36005;SHGC-57694;SHGC-57774;SHGC-78636;SHGC-82385;STS-N58117;WI-15668;WI-17042 HRG3;pro-NRG3 OTTHUMP00000019990;OTTHUMP00000245406;OTTHUMP00000245407;OTTHUMP00000245409;OTTHUMP00000245410;neuregulin 3 variant 1;neuregulin 3 variant 10;neuregulin 3 variant 11;neuregulin 3 variant 12;neuregulin 3 variant 13;neuregulin 3 variant 14;neuregulin 3 variant 3;neuregulin 3 variant 4;neuregulin 3 variant 5;neuregulin 3 variant 6;neuregulin 3 variant 7;neuregulin 3 variant 8;neuregulin 3 variant 9;neuregulin-3-like polypeptide;pro-neuregulin-3, membrane-bound isoform APPROVED protein-coding ENSG00000185737 HGNC:7999 16115 605533 REVIEWED 1312137 NRF1 nuclear respiratory factor 1 This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014] 7 7 7 q32 124047294 124192656 + 129251555 129396922 + 129611714 129757082 + 1580863;1357966;2302400;2302404;6480464;6907045;8554872 15110384;17704287;18723421 10222232;10364186;10412986;10777530;11058604;11069771;11340167;11457459;11943463;12174908;12477932;12490281;12690205;12832613;12958173;14715254;14747477;14962666;15126285;15257658;15308669;15342556;15452206;15479157;15525513;15656981;15684387;15992771;16082529;18071027;18184751;18222924;18234454;18364745;18660489;18719883;19056867;19181665;19453261;19460752;19674972;19913121;20561910;20587593;20599696;20628086;20629635;20724482;21146886;21447778;21486948;21609478;21953459;22105178;22379092;22500024;22505724;22580151;22932898;23048038;23144760;23251661;23816881;23939472;24204994;24250222;24462598;24466341;24875355;2584221;7558044;7629110;8034649;8108407;8253388;8541844;9108165;9228045;9492280 4899 C9JP85;Q16656 ABBA01057626;ABBA01057627;ABBA01057628;ABBA01057629;ABBA01057630;AC078846;AC084864;AI816827;AK290891;AK293351;AL530274;AMYH02016736;AMYH02016737;AMYH02016738;AMYH02016739;BC016925;BG742958;BM449724;BM993780;BP215381;CH236950;CH471070;DN998889;EU159452;HC309804;HY166547;KF510974;L22454;NM_001040110;NM_001293163;NM_001293164;NM_005011;U02683;U18375;U18376;U18377;U18378;U18379;U18380;U18381;U18382;U18383;U44848 AAA16918;AAA21647;AAA79013;AAH16925;ABV90872;ABZ92172;BAF83580;BAG56867;CBJ21209;EAL24100;EAW83726;EAW83727;EAW83728;EAW83729;EAW83730;EAW83731;NP_001035199;NP_001280092;NP_001280093;NP_005002;Q16656 Hs.654363 1728213;1786278;1795090;2127397;2137461;2139528;2152064;5126567 D7S3063;G63529;GDB:3755106;NFE2L1;PMC97559P1;RH17635;RH41864;SHGC-148196 ALPHA-PAL;NRF-1 OTTHUMP00000184912;OTTHUMP00000184913;OTTHUMP00000184914;alpha palindromic-binding protein APPROVED protein-coding ENSG00000106459 HGNC:7996 02930 600879 REVIEWED 1352240 NRM nurim (nuclear envelope membrane protein) The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 6 6 6 p21.33 32253963 32256906 - 30655824 30659197 - 30688047 30691420 - 1304479;6480464 10402458 11766875;12477932;15542857;16303743;16341674;16344560;17517639;19851445;19913121;19946888;20628086;21890473;22268729;23092226 11270 B3KQU6;H0Y6T6;Q8IXM6 AB110935;AB110936;AB202096;ABBA01038053;AF143676;AI521967;AK075509;AK298152;AK315190;AL662797;AL732442;AL845353;AMYH02013437;AY358411;BC004509;BC021260;BC039865;BE548635;BM847576;BM917173;BU159435;BX908728;CH471081;CR759873;CR788240;CR936878;DA000315;JQ798186;JQ798187;NM_001270707;NM_001270708;NM_001270709;NM_001270710;NM_007243;NR_073065;NR_073066;NR_073072 AAD45885;AAH04509;AAH21260;AAH39865;AAQ88777;ADQ32972;AFL55648;AFL55649;BAD13701;BAD13702;BAE78616;BAG37630;BAG52158;BAG60428;EAX03320;NP_001257636;NP_001257637;NP_001257638;NP_001257639;NP_009174;Q8IXM6 Hs.519993 1848120;2180393;2185963 RH46627;RH46631;SHGC-34551 NRM29 OTTHUMP00000029332;OTTHUMP00000164112;OTTHUMP00000164113;nuclear envelope membrane protein;nuclear rim protein;nurim APPROVED protein-coding ENSG00000137404 HGNC:8003 10120 REVIEWED 1351872 NRN1 neuritin 1 This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 6 p25.1 7224912 7234313 - 5998232 6007838 - 5997999 6007605 - 633434;6480464 9122250 12477932;14574404;14702039;15489334;16344560;16723126;18265009;19569075;20405246;21652774;24250222 51299 Q9NPD7 ABBA01022013;AF114833;AF136631;AJ420483;AK093824;AK314095;AL136307;AL541038;AMYH02013039;BC002683;BC042019;BF970432;BX340783;CH471087;DB013243;NM_001278710;NM_001278711;NM_016588;XM_006715106;XM_006715107 AAF62371;AAH02683;AAH42019;AAP97232;BAG36790;EAW55183;EAW55184;NP_001265639;NP_001265640;NP_057672;Q9NPD7;XP_006715169;XP_006715170 Hs.103291 1853954;2109575;5017793 NRN1;NRN1_9703;RH1540 MGC44811;NRN;dJ380B8.2 OTTHUMP00000015989;neuritin APPROVED protein-coding ENSG00000124785 HGNC:17972 07592 607409 REVIEWED 1605881 NRN1L neuritin 1-like INVOLVED IN nervous system development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; fonofos 16 16 16 q22.1 52427193 52428683 + 67918781 67920271 + 67884878 67886368 + 6480464;8554872 12477932;12975309;18265009 123904 I3L2K6;J3QS81;Q496H8 ABBA01025463;AC040162;AMYH02032244;AY358782;BC100863;BC100864;BC100865;BC100866;CH471092;NM_198443 AAI00864;AAI00865;AAI00866;AAI00867;AAQ89142;EAW83184;NP_940845;Q496H8 Hs.435464 1648916;2150761;2218854;5493099 RH79122;SHGC-74292;UNQ2446__5011;UniSTS:484227 MGC118990;MGC118993;UNQ2446 MRCC2446;OTTHUMP00000174845;neuritin-like protein protein-coding ENSG00000188038 HGNC:29811 18261 PROVISIONAL 1313083 NRL neural retina leucine zipper This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008] 14 14 14 q11.1-q11.2 4413793 4418309 - 24547902 24584223 - 24078693 24114724 - 1580991;1580863;6480464;7240710;8699517;8554872 11879142 10192380;10887186;11477108;12107411;12477932;12552256;12566383;12796249;1427865;15001570;15328344;15459973;15489334;15591106;16854989;16880509;1729696;17335001;19933183;20301590;20551322;20801516;21697133;21981118;23534816;8939891;9344665;9390516 4901 H0YNW2;P54845 AB593102;AB593104;AB593106;ABBA01061330;AL136295;AMYH02028878;BC012395;BT006942;BX161381;BX161522;CH471078;KF455834;M81840;M95925;NG_011697;NM_006177;U95012;XM_005267708;XM_005267709;XM_005267710;XM_006720154 AAA59948;AAA96828;AAB82768;AAH12395;AAP35588;BAJ84042;BAJ84044;BAJ84046;CAD61873;CAD61954;EAW66116;NP_006168;P54845;XP_005267765;XP_005267766;XP_005267767;XP_006720217 Hs.652297 1648445;1730027;1794418;2139378;2144032;2219200;7184657 D14S1329;D14S46;NRL__6074;PMC311069P9;RH1631;SHGC-31124 D14S46E;NRL-MAF;RP27 OTTHUMP00000164706;OTTHUMP00000164707;neural retina-specific leucine zipper protein;neural retinal-specific leucine zipper APPROVED protein-coding ENSG00000129535 HGNC:8002 08875 162080;613750 REVIEWED 5471646 NRON non-protein coding RNA, repressor of NFAT 9 9 q33.3 129170054 129172783 - 126407775 126410504 - 10737800;16141075;21983832 641373 ABBA01043810;AC006443;AMYH02021663;NR_045006 Hs.742606 NCRNA00194 ncrna HGNC:37079 609618 PROVISIONAL 1602040 NRROS negative regulator of reactive oxygen species INVOLVED IN immune response (ortholog); inflammatory response (ortholog); superoxide metabolic process (ortholog); FOUND IN endoplasmic reticulum (ortholog); INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate; 3,4-methylenedioxymethamphetamine (ortholog) 3 3 3 q29 194948253 194970470 + 196366656 196388875 + 196639785 196662004 + 6480464 12477932;12975309;15489334;22268729;22505724;23545260;24550525 375387 Q86YC3 ABBA01033748;AC055725;AMYH02008494;AY358322;BC034704;BC044233;NM_198565 AAH44233;AAQ88688;NP_940967;Q86YC3 Hs.702186 1706246;2148246 SHGC-80664;WI-16806 GARPL1;LRRC33;MGC50789;UNQ3030 ELLP3030;OTTHUMP00000208249;leucine rich repeat containing 33;leucine-rich repeat-containing protein 33 APPROVED protein-coding ENSG00000174004 HGNC:24613 17452 615322 PROVISIONAL 732191 NRP2 neuropilin 2 This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q33.3 200305001 200420624 + 206547184 206662857 + 205682460 205798133 + 1580863;6480464;6484113;8554872 10196546;10329017;10520995;10748121;10891538;11112349;11278319;11394892;11677062;11756651;11815985;12210066;12412174;12477932;12632379;12659673;12730958;12845630;14702039;14760080;15550623;15613413;16621967;16816121;17088944;17427189;17699524;17891484;17917967;18065694;18182619;18307536;18564921;18708346;18781179;18785001;19037249;19088020;19409892;19460752;19474288;19480842;19580679;19736548;19790074;19855168;19909241;20488940;20548225;20651020;20851535;21186301;21199821;21324919;21474827;21610314;21747928;21840568;21875946;21880798;22028766;22384800;22777769;22961441;22971992;23076131;23145112;23149913;23436775;23551578;23585340;23801331;23892628;24121493;24722188;9288754;9331348;9856463;9872925;9883722 8828 C9JH98;O60462;Q7LBX6;Q7Z3T9;X5D2Q8 ABBA01062639;ABBA01062640;AC007362;AC007561;AF016098;AF022859;AF022860;AF119893;AF280544;AF280545;AF280546;AF281074;AK057705;AK130198;AK290934;AK307367;AK307616;AL833606;AMYH02005620;BC009222;BC018631;BC101525;BC104770;BC117413;BC143237;BC143238;BC143608;BX537423;BX648292;CH471063;JA738705;JA738707;JA738709;JA738711;JA738713;JA738715;KF459587;KJ534899;KJ534900;NG_029567;NM_003872;NM_018534;NM_201264;NM_201266;NM_201267;NM_201279;XM_005246933;XM_005246934 AAC12922;AAC51788;AAC51789;AAF69647;AAG41403;AAG41404;AAG41405;AAG41897;AAG41898;AAG41899;AAG41900;AAH09222;AAI01526;AAI04771;AAI17414;AAI43239;AAI43609;AAX93216;AAY14875;ADR83417;AHW56539;AHW56540;BAF83623;CAD97665;CCF77005;CCF77006;CCF77007;CCF77008;CCF77009;CCF77010;EAW70362;EAW70363;EAW70364;EAW70365;EAW70366;EAW70367;EAW70368;EAW70369;EAW70370;EAW70371;EAW70372;EAW70373;NP_003863;NP_061004;NP_957716;NP_957718;NP_957719;NP_958436;O60462;XP_005246990;XP_005246991 Hs.471200 1647388;1690766;1706100;1739993;1751271;1762167;1796426;2122597;2158324;2166165;5024039;5037552;5127650 D16S325;D2S1846;D2S2128;D8S2279;NRP2_1404;RH36188;RH68921;RH99006;SGC31090;SHGC-105157;SHGC-146056;SHGC-80012;STS-AA009628 MGC126574;NP2;NPN2;PRO2714;VEGF165R2 OTTHUMP00000163807;OTTHUMP00000163808;OTTHUMP00000206352;OTTHUMP00000206353;OTTHUMP00000206354;OTTHUMP00000206355;neuropilin-2;neuropilin-2a(17);neuropilin-2a(22);neuropilin-2b(0);receptor for VEGF165 and semaphorins class3;vascular endothelial cell growth factor 165 receptor 2;vascular endothelial growth factor-165 receptor 2 APPROVED protein-coding ENSG00000118257 HGNC:8005 03643 602070 REVIEWED 1317257 NRSN1 neurensin 1 INVOLVED IN nervous system development (ortholog); FOUND IN cytoplasmic membrane-bounded vesicle (ortholog); growth cone (ortholog); neuron projection (ortholog); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; paracetamol 6 6 6 p22.3 25359713 25381056 + 24126414 24147757 + 24126186 24147529 + 6480464 12463420;12477932;14574404;14702039;15489334;1870127;20379614;20807314;21130836;24024966;8125298 140767 Q5VTS0;Q5VTS2;Q8IZ57 ABBA01066532;AF418980;AK096290;AK225775;AK314373;AL139388;AL445196;AL833257;AMYH02013318;AMYH02013319;BC023514;BC067291;CH471087;DB552652;DB553646;FO393410;NM_080723 AAH23514;AAL14639;ABM84321;ABM87716;ACE86868;ACE87556;BAC04748;BAG37001;EAW55438;EAW55439;NP_542454;Q8IZ57 Hs.726270 1712733;1792854;2107757;2120264 A006R42;PMC166143P12;RH121064;VMP__5067 VMP;p24 OTTHUMP00000018028;neurensin-1;neuro-p24;vesicular membrain protein p24;vesicular membrane protein of 24 kDa;vesicular membrane protein p24 protein-coding ENSG00000152954 HGNC:17881 18285 VALIDATED 1313267 NRSN2 neurensin 2 FOUND IN plasma membrane; transport vesicle (ortholog) 20 20 20 p13 422220 430358 + 326789 335512 + 346726 354868 + 11076863;11230166;11256614;11780052;12477932;14702039;15489334;15489336;16169070;16344560;16381901;16527258;19824122;21139048;21890473;23000965 80023 Q9GZP1;V9GY99;V9GYN1;V9GYV8;V9GYY0;V9GZ28 ABBA01053747;AK026982;AK290527;AL034548;AL136915;AMYH02036547;AW292804;BC001963;BE792891;CH471133;CR533441;DA708181;NM_024958;XM_005260831;XM_005260834;XM_006723629;XM_006723630 AAH01963;BAB15613;BAF83216;CAB66849;CAG38472;CAL38253;EAX10679;EAX10680;NP_079234;Q9GZP1;XP_005260888;XP_005260891;XP_006723692;XP_006723693 Hs.416024 1693414;2120295;2160280 A009P19;AL034517;WI-14697 C20orf98;FLJ23329;dJ1103G7.6 OTTHUMP00000029911;OTTHUMP00000029912;chromosome 20 open reading frame 98;neurensin-2 protein-coding ENSG00000125841 HGNC:16229 12791 610666 VALIDATED 9068635 NRSN2-AS1 NRSN2 antisense RNA 1 20 20 20 395811 400736 - 300333 305945 - 319687 325252 - 10737800;16341674 100507459 AA223144;ABBA01053745;AL034548;AMYH02036547;BF798129;BM849624;BQ024743;BX104512;HG511123;NR_109990 Hs.659689 ncrna HGNC:51222 VALIDATED 1344667 NRK Nik related kinase The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010] X X X q22.3 105541018 105677081 + 105066536 105202602 + 105822543 105958610 + 1580863;6480464;6484113;8554872 11076863;11230166;12477932;12837278;14702039;15489334;15489336;15772651;16381901 203447 B7Z1I7;F5H049;Q7Z2Y5 ABBA01018882;ABBA01018883;ABBA01018884;ABBA01018885;ABBA01018886;ABBA01018887;ABBA01018888;ABBA01018889;ABBA01018890;ABBA01018891;AK131549;AK293500;AK300377;AMYH02040192;AMYH02040193;AMYH02040194;BC108702;BX538345;CH471120;KF459286;KF459287;KF510615;NG_021425;NM_198465;XM_006724631;XM_006724632;XM_006724633;XM_006724634;Z68339;Z69734;Z70274;Z83850;Z97356 AAI08703;AAI72241;AAI72556;BAD18683;BAH11523;BAH13273;CAD98108;CAL37778;CAL38221;EAX02749;EAX02750;EAX02751;NP_940867;Q7Z2Y5;XP_006724694;XP_006724695;XP_006724696;XP_006724697 Hs.209527 1663610;1701734;1791135;1853349;1857689;2148428;2182041;7184763 DXS87;L77816;L77860;RH70201;SHGC-34675;SHGC-36254;px-41g5 DKFZp686A17109;FLJ16788;MGC131849;NESK OTTHUMP00000043367;nik-related protein kinase APPROVED protein-coding ENSG00000123572 HGNC:25391 14841 300791 REVIEWED 1323522 NRIP1 nuclear receptor interacting protein 1 Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008] 21 21 21 q11.2 1503242 1606267 - 16333556 16438224 - 14961235 15064929 - 1580863;5128512;6480464;6484676;6484113;8554872 16394250;19471584 10022764;10082574;10364267;10379889;10406462;10428779;10531331;10659697;10830953;10935545;11006275;11266503;11278635;11285237;11459805;11500849;11509661;11518808;12403842;12477932;12503607;12549917;12554755;1266503;12773562;12782406;14581481;14702039;14736873;15001550;15060175;15130509;15489334;15572661;15604093;15632153;16009131;16131398;16189514;16213843;16439465;16527872;16713569;17053781;17880687;17972916;18211901;18374649;18660489;18950845;19060904;19064572;19093296;19322201;19367438;19401155;19734545;19862326;19887821;19933466;20083575;20200160;20379614;20410059;20453000;21182203;21543494;21693764;21700896;21832049;21868449;21890473;21906983;22071320;22118674;22285022;22629304;22956256;23173577;23241901;23535729;23774759;23885094;24667635;24722188;7641693;8887632;9013766;9115274;9192902;9368054;9521594;9556573;9626662;9774463;9774688 8204 A8K171;C9J130;P48552 ABBA01057085;AF127577;AF248484;AK123818;AK289786;AL163207;AMYH02037524;AMYH02037525;AX405874;BC040361;BE792046;CH471079;HF584749;HF584750;NM_003489;X84373;XM_005261063;XM_005261065;XM_005261066;XM_006724054 AAF35255;AAF62185;AAH40361;ABM82106;ABM85288;BAF82475;CAA59108;CAB90396;CAD34981;CCQ44046;CCQ44047;EAX10047;NP_003480;P48552;XP_005261120;XP_005261122;XP_005261123;XP_006724117 Hs.155017 1664002;1679201;1681682;1695622;1729437;1791165;1791526;1792938;1793970;2130657;2131703;2137059 D21S13E;G34572;G48501;Nrip1;PMC113761P4;PMC170950P5;PMC310710P1;RH36036;RH77742;SHGC-31616;SHGC-34854;SHGC-7354 FLJ77253;RIP140 OTTHUMP00000083036;OTTHUMP00000083037;OTTHUMP00000083038;nuclear factor RIP140;nuclear receptor-interacting protein 1;receptor interacting protein 140;receptor-interacting protein 140 APPROVED protein-coding ENSG00000180530 HGNC:8001 03927 602490 REVIEWED 733655 NRGN neurogranin (protein kinase C substrate, RC3) Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq, Jul 2008] 11 11 11 q24 121770006 121777279 + 124609829 124617102 + 124739933 124747206 + 1580863;6480464 10075657;11060308;12477932;12808095;12889141;15489334;16677608;17140601;17244347;18855024;19571808;20875798;21037240;21112188;21538840;21647148;21799211;21988832;22253779;22306195;22461181;22856365;23864651;23903071;24098564;24816145;7898318;8080473;8929222;9143500;9499372;9886843 4900 Q92686 ABBA01031254;AJ317956;AMYH02025724;AP000866;BC002835;BM923818;BT007325;CH471065;DB474181;NM_001126181;NM_006176;U89165;X99075;X99076;Y09689;Y15058;Y15059 AAB49458;AAH02835;AAP35989;CAA67532;CAA67533;CAA70867;CAA75343;CAC37631;EAW67593;EAW67594;NP_001119653;NP_006167;Q92686 Hs.524116 1796424;2118266;2148026 NRGN_1009;RH18180;WI-16853 RC3;hng;ng OTTHUMP00000231529;calmodulin-binding protein;neurogranin;protein kinase C substrate APPROVED protein-coding ENSG00000154146 HGNC:8000 03828 602350 REVIEWED 731343 NRCAM neuronal cell adhesion molecule Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 7 7 7 q31 102595073 102910207 - 107788071 108096841 - 108147626 108456717 - 1580863;6480464;8554872 11449000;11483367;11724816;11866539;12045112;12139915;12183361;12421765;12477932;12853948;14602817;14702039;15128462;15523497;16123759;16335952;16344560;17106428;17667921;18602664;18664314;19058789;19086053;19154219;19598235;20039944;20379614;20602751;21718388;21876539;21906983;22182708;22889411;23338556;23593202;8812479;8889548;8922386;9049255;9205841;9321706;9604207 4897 B7Z670;C9J8B6;C9JF43;C9JH43;C9JUR7;C9JYY6;F8W775;H7C132;Q14CA1;Q92823 AB002341;ABBA01057890;ABBA01057891;ABBA01057892;ABBA01057893;ABBA01057894;ABBA01057895;ABBA01057896;AC005058;AC005683;AC007567;AF172277;AI031622;AJ001054;AJ001057;AK092330;AK127035;AK294195;AK299870;AMYH02016525;AMYH02016526;AMYH02016527;AMYH02016528;AMYH02016529;AY528240;BC098401;BC114570;BC115736;BU735065;BX538010;BX954399;CH236947;CH471070;DA292156;DA398450;KF510970;NG_029898;NM_001037132;NM_001193582;NM_001193583;NM_001193584;NM_005010;U55258;XM_005250373;XM_005250380;XM_005250383;XM_005250385;XM_006716003;XM_006716004;XM_006716005;XM_006716006;XM_006716007;XM_006716008;XM_006716009;XM_006716010;XM_006716011;XM_006716012;XM_006716013;XM_006716014;XR_428177;XR_428178 AAC50765;AAF22282;AAF22283;AAH98401;AAI14571;AAI15737;AAS07434;AAS48507;BAA20801;BAG52532;BAG57510;BAH13156;CAA04504;CAA04507;CAD97960;EAL24386;EAW83427;EAW83428;EAW83429;EAW83430;NP_001032209;NP_001180511;NP_001180512;NP_001180513;NP_005001;Q92823;XP_005250430;XP_005250437;XP_005250440;XP_005250442;XP_006716066;XP_006716067;XP_006716068;XP_006716069;XP_006716070;XP_006716071;XP_006716072;XP_006716073;XP_006716074;XP_006716075;XP_006716076;XP_006716077 Hs.21422 1665534;1675080;1696746;1750283;1772494;1847488;1853877;2107447;2119780;2119836;2151584;2154458;2157226;2157228;2163657;2172562;2172564;2176168;2182533;2185844;2190723 A002A21;D7S2147E;D7S2242;D7S2306;D7S2397;D7S2400;D7S2708;G19850;GDB:1318176;GDB:1318382;GDB:3754628;GDB:3755063;HSC253;NIB455;NRCAM_7843;RH11567;RH12783;SHGC-112500;SHGC-77931;WI-13458;WIAF-1710 KIAA0343;MGC138845;MGC138846;NrCAM-;nr-CAM NgCAM-related cell adhesion molecule;OTTHUMP00000207042;OTTHUMP00000207067;OTTHUMP00000207068;OTTHUMP00000207071;bravo;hBravo;neuron-glia-cam-related cell adhesion molecule;neuronal surface protein Bravo;ng-CAM-related APPROVED protein-coding ENSG00000091129 HGNC:7994 07207 601581 REVIEWED 731950 NRTN neurturin Neurturin is a member of the TGF-beta subfamily, TRN. This gene signals through RET and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5762840 5767355 + 5823818 5828335 + 5823807 5828324 + 1600267;1580863;6480464;7349377;8554872 14507865;9700200 10829012;11790765;12397373;12477932;15242795;15829225;16081799;16895582;17522305;18222320;18970938;20301612;21203500;21723942;22847529;24067900;24250222;8945474;9192898;9192899;9286710;9407096 4902 Q99748 ABBA01055986;AC011499;AC024592;AL161995;AMYH02035339;BC137399;BC137400;CH471139;NG_008202;NM_004558;U78110 AAC50898;AAI37400;AAI37401;CAB82327;EAW69140;NP_004549;Q99748 Hs.234775 NTN prepro-neurturin APPROVED protein-coding ENSG00000171119 HGNC:8007 03604 602018 REVIEWED 1353595 NRXN3 neurexin 3 This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012] 14 14 14 q31 58907852 60368826 + 78636716 80334633 + 78170373 79868290 + 1580863;6480464;8554872 11944992;12036300;12379233;12477932;12508121;14702039;1621094;16344560;17081983;17804423;18029348;18519826;18923512;18978678;19086053;19557197;19658047;20125193;20197096;20379614;20398908;20703240;20724581;20935630;21084300;21150319;21358552;21552555;21674055;21676558;21688152;22209245;22391885;22716474;22872573;22959728;23118423;23245376;23306218;23383267;23563607;23909413;24265751;8163501;8576240;8786425;9448462;9628581;9707552;9856994;9872452 9369 G3V247;G3V4R9;H0YJL2;Q9HDB5;Q9Y4C0 AB018286;ABBA01030619;ABBA01030620;ABBA01030621;ABBA01030622;ABBA01030623;ABBA01030624;ABBA01030625;ABBA01030626;ABBA01030627;ABBA01030628;ABBA01030629;ABBA01030630;ABBA01030631;ABBA01030632;ABBA01030633;ABBA01030634;ABBA01030635;ABBA01030636;ABBA01030637;ABBA01030638;AC007056;AC007058;AC007955;AC008045;AC008056;AC009396;AC011440;AC012099;AC018514;AC022469;AC026888;AF099810;AF123462;AJ316284;AJ493127;AK056530;AK096247;AK126795;AK310235;AL833739;AMYH02029587;AMYH02029588;AMYH02029589;AMYH02029590;AMYH02029591;AMYH02029592;AMYH02029593;AMYH02029594;AMYH02029595;AMYH02029596;AMYH02029597;AMYH02029598;AMYH02029599;AMYH02029600;AMYH02029601;AMYH02029602;AMYH02029603;AMYH02029604;AMYH02029605;AMYH02029606;AMYH02029607;AMYH02029608;AMYH02029609;AMYH02029610;AMYH02029611;BC059368;BC068469;BC142649;BC150194;BC152457;CH471061;DA083962;DA124460;DA128446;DA213090;DA243312;KC877531;KF455954;KF455956;KF455959;KF455962;KF455963;NM_001105250;NM_001272020;NM_004796;NM_138970;NR_073546;NR_073547;XM_005268218;XM_006720322;XM_006720323 AAC68909;AAD13621;AAD41968;AAF09143;AAF15058;AAF21147;AAF28465;AAF61277;AAF87841;AAF99808;AAH59368;AAH68469;AAI42650;AAI50195;AAI52458;BAA34463;BAG51739;BAG53239;CAC87720;CAD37989;CAH56254;EAW81312;EAW81313;EAW81314;EAW81315;EAW81316;EAW81317;EAW81318;NP_001098720;NP_001258949;NP_004787;NP_620426;Q9HDB5;Q9Y4C0;XP_005268275;XP_006720385;XP_006720386 Hs.368307 1335242;1338921;1339678;1340965;1645673;1660786;1672682;1673761;1692048;1693788;1694568;1695132;1695788;1704154;1704232;1705720;1707282;1708554;1709646;1710272;1712937;1712939;1714345;1717583;1719567;1719745;1723969;1726377;1730313;1731323;1731573;1748521;1750875;1752335;1755719;1757491;1760933;1769928;1772109;1775370;1853153;2117385;2122301;2129031;2134375;2135551;2136037;2146691;2151402;2156123;2156194;2160473;2164824;2178455;2180967;5014051;5016478;5022200;5037552;5118444;7186013 AFM267YG9;AFM280va5;AL034006;D11S3316;D14S1008;D14S110E;D14S1323;D14S243;D14S287;D14S762;D14S862;D14S868;D14S95E;D16S3027;D1S1190;D8S2278;D8S2279;G15990;G17817;G35388;G35504;G35636;G35944;G36001;G36312;G36313;G43263;G48206;G62489;GDB:434012;L18426;RH118934;RH119952;RH120558;RH120559;RH122097;RH123563;RH123687;RH70976;RH78382;SGC31195;SHGC-104647;SHGC-106288;SHGC-142566;SHGC-144860;SHGC-144872;SHGC-58924;SHGC-60215;SHGC-79243;SHGC-79776;SHGC-82549;SHGC-83148;SHGC-83446;SHGC-85059;SHGC-85186;SHGC-85230;STS-AA021057;WI-10441;WI-13595;WI-22695 C14orf60;KIAA0743;MGC176711 OTTHUMP00000246243;OTTHUMP00000246246;OTTHUMP00000246248;OTTHUMP00000246249;OTTHUMP00000246250;OTTHUMP00000246251;neurexin III;neurexin III-alpha;neurexin III-beta;neurexin-3-alpha;neurexin-3-beta APPROVED protein-coding ENSG00000021645 HGNC:8010 08989 600567 REVIEWED 1343590 NSDHL NAD(P) dependent steroid dehydrogenase-like The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008] X X X q28 152333895 152372297 + 151999511 152037907 + 152830967 152869363 + 1580863;2316868;2316857;6480464;7240710;8554872;8699517 12668600;16876788 10710235;10854409;11076863;11256614;11907515;12477932;12837764;12966526;14506130;14741744;15489334;15489336;15805545;1602151;16230564;16381901;17498944;18029348;18660489;19027726;19880419;19906044;20403997;21129721;21139048;21290788;21890473;21906983;21963094;22053931;22113624;23000965;24816145;25027693;8439729;8828036;8828037 50814 C9JDR0;Q15738 ABBA01043690;ABBA01043691;ABBA01043692;AK026549;AMYH02040791;BC000245;BC007816;CH471172;KF459498;NG_009163;NM_001129765;NM_015922;U47105;U82671;XM_006724824 AAC50558;AAH00245;AAH07816;ABM83414;ABM86625;CAL38054;CAL38546;EAW72897;EAW72898;EAW72899;NP_001123237;NP_057006;Q15738;XP_006724887 Hs.57698 1341202;1688923 DXS8061;RH80836 H105E3;SDR31E1;XAP104 OTTHUMP00000025902;OTTHUMP00000025903;short chain dehydrogenase/reductase family 31E, member 1;sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating APPROVED protein-coding ENSG00000147383 HGNC:13398 02229 300275;300831;308050 REVIEWED 1607078 NSA2 NSA2 ribosome biogenesis homolog (S. cerevisiae) This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012] 5 5 5 q13.3 69957855 69967486 + 74062816 74072737 + 74766991 74776912 + 6480464 10486207;11124703;12429849;12477932;15489334;15635413;16861225;17207965;19460752;19932687;21139048;21963094;21988832;22095236;22178446;22586326;23000965;23220173;23912275;24457600 10412 H0YAI9;O95478;Q5J7U2 AA830219;AA921837;ABBA01061935;AC093214;AF077615;AF372458;AJ012409;AK313784;AMYH02011577;AY443419;BC005288;BQ775601;CB052084;CH471084;CS300555;HY021659;NM_001271665;NM_014886;NR_073403 AAG43048;AAH05288;AAK53761;AAS00024;ADQ31872;BAG36522;CAA10008;CAK32219;EAW95749;NP_001258594;NP_055701;O95478 Hs.482526 1645466;5117182;5124619;5124994 GDB:451643;RH67927;RH68291;SHGC-32964 CDK105;HCL-G1;HCLG1;HUSSY-29;HUSSY29;TINP1;YR-29 OTTHUMP00000161947;TGF beta-inducible nuclear protein 1;TGF-beta inducible nuclear protein;TGF-beta-inducible nuclear protein 1;hairy cell leukemia protein 1;ribosome biogenesis protein NSA2 homolog APPROVED protein-coding ENSG00000164346 HGNC:30728 18191 612497 REVIEWED 733081 NRP1 neuropilin 1 This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 10 10 10 p12 33231763 33389179 - 33466419 33623833 - 33177491 33334905 - 1581611;1580863;1334463;2313725;2298727;6480464;6484113;8554872 15563310;16175607;16633338;16816123 10196546;10329017;10409677;10414980;10520994;10520995;10688880;10748121;10842181;11112349;11166270;11256614;11333271;11604131;11807987;11953749;11976715;11986311;12216067;12456642;12477932;12517344;12577308;12730958;12883660;14500350;14514674;14600159;14760080;15126502;15160992;15161648;15166498;15233640;15239958;15489334;15522955;15550623;15613413;15695515;15920019;15956974;15978582;16159877;16330548;16335952;16344560;16371354;16377081;16385451;16423422;16424390;16502470;16513643;16648151;16763549;16809290;16847823;16849452;16990775;17015762;17017185;17088944;17222790;17369353;17369861;17376520;17575273;17726369;17891484;17917967;17974973;18000534;18065694;18088455;18164591;18223683;18231921;18272814;18284215;18325345;18403014;18443354;18628209;18638267;18704117;18708346;18785001;18922901;18974107;18984674;18996601;19037249;19054571;19086053;19270265;19364973;19460752;19474288;19480842;19486891;19499532;19736548;19805273;19837659;19857463;19909241;20026901;20043119;20053475;20085644;20201926;20215856;20363638;20588308;20631636;20675371;20950431;20956519;21063027;21111525;21139048;21186301;21245381;21306301;21338642;21401950;21525791;21586748;21653826;21682944;21852397;21890473;21897119;21906983;21939755;21951945;21978468;21988832;22025255;22052678;22134529;22251373;22318724;22393126;22627768;22875653;22885184;23145112;23175449;23185562;23222303;23288161;23297363;23398358;23447383;23452854;23455922;23551578;23585340;23621014;23685409;23793025;24053763;24066029;24079887;24114198;24627131;24641672;24737589;24791743;9288753;9331348;9529250;9856463;9883722 8829 A8K9V7;E7EX60;E9PEP6;H0Y4A0;H0Y4N6;H0Y7Z2;O14786;Q59F20;Q5JWQ2;Q5JWQ4;Q5JWQ6;Q5T7F0;Q68DN3;Q6AWA9;V9GYL7 AA973607;AB209641;ABBA01033370;ABBA01033371;ABBA01033372;ABBA01033373;AF016050;AF018956;AF086016;AF145712;AF268691;AF280547;AF280548;AF280549;AF280550;AF280551;AF482431;AK292822;AL121748;AL353600;AL698999;AL833608;AMYH02022590;AMYH02022591;AMYH02022592;AY249243;BC007533;BC007737;BT006995;BX510902;BX648025;BX648250;CH471072;CR749333;DA702852;EU332859;JC231892;NG_030328;NM_001024628;NM_001024629;NM_001244972;NM_001244973;NM_003873;NR_045259;XM_006717521;XM_006717522;XM_006717523;XM_006717524;XM_006717525;XM_006717526 AAC12921;AAC51759;AAF44344;AAG41406;AAG41893;AAG41894;AAG41895;AAG41896;AAH07533;AAH07737;AAP35641;AAP78927;AAP80144;AAQ14300;ABY87548;ACE86571;ACE87254;BAD92878;BAF85511;CAD91133;CAH10373;CAH10397;CAH18187;CDM22288;EAW85942;EAW85943;EAW85944;EAW85945;NP_001019799;NP_001019800;NP_001231901;NP_001231902;NP_003864;O14786;XP_006717584;XP_006717585;XP_006717586;XP_006717587;XP_006717588;XP_006717589 Hs.131704;Hs.653996 1338471;1659984;1661315;1661317;1695144;1713731;1718101;1725009;1767719;1857662;2128061;2160540;5037552 A005W14;D10S1654;D8S2279;G20549;G48212;RH118801;RH120752;RH122665;RH45612;RH46501;RH65747;RH70034;SHGC-56598 BDCA4;CD304;DKFZp686A03134;DKFZp781F1414;NP1;NRP;VEGF165R OTTHUMP00000020818;OTTHUMP00000020819;OTTHUMP00000020820;OTTHUMP00000020821;OTTHUMP00000020822;neuropilin;neuropilin-1;transmembrane receptor;vascular endothelial cell growth factor 165 receptor APPROVED protein-coding ENSG00000099250 HGNC:8004 03642 602069 REVIEWED 737576 NSG1 neuron specific gene family member 1 ENCODES a protein that exhibits clathrin light chain binding (inferred); INVOLVED IN clathrin coat assembly (inferred); dopamine receptor signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; all-trans-retinoic acid 4 4 4 p16.3 4285777 4318783 + 4387983 4420785 + 4386256 4419058 + 6480464;8554872 12070131;12477932;14702039;15489334;16344560;20599942;20878061;21084623;23602568;9013775 27065 B2R5R8;P42857 ABBA01008244;ABBA01008245;AC110814;AK094573;AK125065;AK125172;AK299657;AK301911;AK312288;AMYH02008641;AMYH02008642;AX775767;BC001745;BC034227;CH471131;DA746130;DA773692;DC386827;HY141242;M98528;M98529;M98534;NM_001040101;NM_001287763;NM_001287764;NM_014392 AAA60152;AAA60355;AAH01745;AAH34227;BAG35215;BAG52889;BAG54158;BAG61574;BAG63337;CAE11583;EAW82430;EAW82431;EAW82432;NP_001035190;NP_001274692;NP_001274693;NP_055207;P42857 Hs.518595 1675245;1771272;1851368;2132726;2133930;2142316;2150803;2156169;2171808;2177217;5022322;5037552 D11S2560;D4S3228;D8S2279;RH69826;SHGC-30318;SHGC-30353;SHGC-50343;SHGC-59558;SHGC-67907;STS-D51228;WI-17747;WIAF-2557 D4S234;D4S234E;NEEP21;P21 OTTHUMP00000155127;OTTHUMP00000159148;OTTHUMP00000217301;OTTHUMP00000217302;OTTHUMP00000217303;OTTHUMP00000217304;OTTHUMP00000217305;brain neuron cytoplasmic protein 1;brain specific mrna b;carboxyterminally EE-tagged neuron-enriched endosomal 21 kDa protein;neuron-specific protein family member 1 APPROVED protein-coding ENSG00000168824 09624 607645 VALIDATED 734185 NRXN1 neurexin 1 Neurexins function in the vertebrate nervous system as cell adhesion molecules and receptors. Two neurexin genes are among the largest known in human (NRXN1 and NRXN3). By using alternate promoters, splice sites and exons, predictions of hundreds or even thousands of distinct mRNAs have been made. Most transcripts use the upstream promoter and encode alpha-neurexin isoforms; fewer transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. Alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and they interact with neurexophilins. Beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. The RefSeq Project has decided to create only a few representative transcript variants of the multitude that are possible. [provided by RefSeq, Oct 2008] 2 2 2 p16.3 49985850 51099841 - 50145643 51259674 - 49918505 51032536 - 1580863;632385;633988;6480464;7240710;8699517;8554872 11152476;12437578 11036064;11171101;11243866;11944992;12036300;12168954;12421765;12477932;14522992;14702039;15684424;15797875;15815621;1621094;16344560;17034946;17158188;17989066;18057082;18179900;18270208;18490107;18940311;18945720;19086053;19197363;19460752;19557195;19658047;19675094;19734545;19736351;19822762;19880096;19896112;20113834;20157312;20162629;20201926;20347009;20379614;20414139;20421335;20468056;20543817;20691247;20834067;20860064;20967226;21288692;21424692;21477380;21559374;21687627;21827697;21890328;21964664;22235116;22337556;22405623;22504536;22617343;22645275;22832527;22832960;22948383;23264101;23294455;23319000;23472757;23533028;23533600;23536886;23638761;23772147;23942779;24064682;24440292;8576240;8699246;8786425;8901523;9325340;9448462;9628581;9707552;9856994;9921901 9378 A4FVB9;A7E294;E7EQN4;E7ERL8;E7ETA5;F5GYC7;F8WB18;H0Y568;H7BYC7;P58400;Q49A31;Q9ULB1 AB011150;AB035356;ABBA01075203;ABBA01075204;ABBA01075205;ABBA01075206;ABBA01075207;ABBA01075208;ABBA01075209;ABBA01075210;ABBA01075211;ABBA01075212;ABBA01075213;ABBA01075214;ABBA01075215;ABBA01075216;ABBA01075217;ABBA01075218;AC007462;AC007560;AC007682;AC009234;AC068715;AC068725;AC069550;AC078994;AF064842;AF087975;AK093260;AK124726;AK295773;AMYH02003798;AMYH02003799;AMYH02003800;AMYH02003801;AMYH02003802;AMYH02003803;AMYH02003804;AMYH02003805;AMYH02003806;AMYH02003807;AMYH02003808;AMYH02003809;AMYH02003810;AMYH02003811;AMYH02003812;AMYH02003813;BC046631;BC125179;BC125180;BC150247;BM021375;BX647616;CH471053;DA153976;DA168874;DA320230;EF539882;NG_011878;NM_001135659;NM_004801;NM_138735;XM_005264642;XM_005264643;XM_006712133;XM_006712134;XM_006712135;XM_006712136;XM_006712137;XM_006712138;XM_006712139;XM_006712140;XM_006712141;XM_006712142;XM_006712143;XM_006712144 AAF03536;AAG38120;AAG59602;AAG59642;AAH46631;AAI25180;AAI25181;AAI50248;AAK06387;AAY14894;AAY14944;ABS86974;BAA25504;BAA87821;BAG58597;CAI46085;EAX00182;EAX00183;EAX00184;EAX00185;EAX00186;NP_001129131;NP_004792;NP_620072;P58400;Q9ULB1;XP_005264699;XP_005264700;XP_006712196;XP_006712197;XP_006712198;XP_006712199;XP_006712200;XP_006712201;XP_006712202;XP_006712203;XP_006712204;XP_006712205;XP_006712206;XP_006712207 Hs.637685 1334808;1338669;1341498;1342291;1652316;1663203;1682319;1683082;1710520;1716207;1719757;1724051;1725499;1730285;1771106;1783924;1784116;1784190;1784268;1848126;2114070;2125491;2133583;2133585;2136377;2141889;2147757;2147931;2171474;2172290 1528;A005B20;A006Y06;D2S1248;D2S1352;D2S185E;D2S2156;D2S2316;D2S2811;G20243;G35313;NRXN1;RH119036;RH119146;RH11979;RH121128;RH123570;RH16667;RH93424;RH98360;SHGC-108032;SHGC-154033;SHGC-155339;SHGC-172604;SHGC-86287;SHGC-9451;STS-M78661;WI-10722;WI-15508;WI-16372 DKFZp313P2036;FLJ35941;Hs.22998;KIAA0578;PTHSL2;SCZD17 OTTHUMP00000159578;OTTHUMP00000200525;OTTHUMP00000201119;OTTHUMP00000201211;OTTHUMP00000228853;neurexin I;neurexin I-alpha;neurexin I-beta;neurexin-1-alpha;neurexin-1-beta APPROVED protein-coding ENSG00000179915 HGNC:8008 11858 600565;614325;614332 REVIEWED 1345295 NSL1 NSL1, MIS12 kinetochore complex component This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014] 1 1 1 q41 186125542 186191151 - 212899495 212965139 - 212726153 212791797 - 6480464;8554872 12477932;14702039;15489334;15502821;16344560;16565220;16585270;16710414;17981135;18029348;20231385;20360068;20379614;20404110;20562864;20819937;21199919;21906983;21963094;21988832;22869522;22939629;24816145;8125298 25936 Q53FM2;Q5SY74;Q5SY76;Q96IY1 AA806390;ABBA01048165;ABBA01048166;AC104333;AF201941;AF255793;AI703127;AK092359;AK124596;AK222996;AK223260;AK303250;AK313730;AL050084;AL591647;AMYH02002646;AMYH02002647;AMYH02002648;AMYH02002649;AMYH02002650;BC007067;BC036048;BE669670;BQ023978;BU570983;CH471100;CK003923;DB045932;NM_001042549;NM_001297736;NM_001297737;NM_001297739;NM_015471;XM_006711267 AAF86877;AAG44640;AAH07067;ABM83825;ABM87148;BAD96716;BAD96980;BAG36472;BAG64333;CAB43260;EAW93379;EAW93380;NP_001036014;NP_001284665;NP_001284666;NP_001284668;NP_056286;Q96IY1;XP_006711330 Hs.497692 1646968;1684938;1769357;1770177;1770271;1771564;1774994;2119254;5016596;5022450 A007A25;D10S275;G29144;GDB:631802;RH67848;SHGC-32332;SHGC-76316;SHGC-76318;SHGC-76326;SHGC-76329 C1orf48;DC8;DKFZp566O1646;MIS14 NSL1, MIND kinetochore complex component, homolog;OTTHUMP00000034928;OTTHUMP00000034929;kinetochore-associated protein NSL1 homolog APPROVED protein-coding HGNC:24548 12378 609174 REVIEWED 1317121 NSD1 nuclear receptor binding SET domain protein 1 This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q35 171774148 171941231 - 176560026 176727214 + 177133025 177300213 + 1580863;6480464;6907045;7240710;8554872;7242632;8699517 23200123 11266437;11493482;11509567;11733144;11896389;12464997;12477932;12525543;12676901;12687502;12807965;12931227;14702039;14997421;15146197;15169884;15362962;15365454;15382262;15539801;15580547;15623156;15640245;15742365;15942875;16010675;16780628;17437319;17561922;17565729;17589499;18001468;19039236;19545651;19596467;19876911;20080798;20301471;20301568;20301652;20420030;20837538;21030982;21139048;21196496;21567906;21597970;21806967;21813447;21890473;21972110;22586326;22703881;23190751;23333153;23592277;23793025;23975195;23999921;24019522;8889548;9628876 64324 D6RA58;D6RA90;D6RBP3;D6RBV9;D6RE14;D6RG26;H7BYB0;Q96L73;Q96MN8 ABBA01033458;ABBA01033459;ABBA01033460;ABBA01033461;ABBA01033462;ABBA01033463;ABBA01033464;ABBA01033465;ABBA01033466;ABBA01033467;ABBA01033468;ABBA01033469;ABBA01033470;ABBA01033471;ABBA01033472;AC008570;AC027314;AC146507;AF085858;AF322907;AF380302;AF395588;AK001546;AK025916;AK026066;AK055187;AK056667;AK091358;AK126591;AL832983;AMYH02012826;AMYH02012827;AMYH02012828;AMYH02012829;AMYH02012830;AMYH02012831;AMYH02012832;AMYH02012833;AY049721;BC021961;BC139789;BC144629;BC150628;CH471195;CK300021;CN333750;NG_009821;NM_022455;NM_172349;XM_005265959;XM_005265960;XM_005265961;XM_005265962;XM_006714901;XM_006714902;XM_006714903;XM_006714904 AAH21961;AAI39790;AAI50629;AAK92049;AAL06645;AAL27991;AAL40694;BAB15281;BAB15346;BAB70868;BAB71247;BAC03645;CAH56331;EAW85031;EAW85032;EAW85033;NP_071900;NP_758859;Q96L73;XP_005266016;XP_005266017;XP_005266018;XP_005266019;XP_006714964;XP_006714965;XP_006714966;XP_006714967 Hs.106861 1652200;1661824;1665507;1665509;1676624;1688442;1740405;1740461;1780764;1795202;2127569;2137213;2168805;2191033;5020948 D5S2221E;D5S2260E;G35510;Hrmt1l2;MARC_13653-13654:1002893061:1;RH18384;RH68619;RH80203;RH92299;SGC34971;SHGC-24370;WI-11713;WI-14959;WI-21083;bac51977T ARA267;DKFZp666C163;FLJ10684;FLJ22263;FLJ44628;H3-K36-HMTase;H4-K20-HMTase;KMT3B;SOTOS1;STO NR-binding SET domain-containing protein;OTTHUMP00000161431;OTTHUMP00000161432;SOTOS;androgen receptor coactivator 267 kDa protein;androgen receptor-associated coregulator 267;androgen receptor-associated protein of 267 kDa;histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific;lysine N-methyltransferase 3B;nuclear receptor-binding SET domain-containing protein 1 APPROVED protein-coding ENSG00000165671 HGNC:14234 09455 117550;130650;277590;601626;606681 REVIEWED 1346608 NSFP1 N-ethylmaleimide-sensitive factor pseudogene 1 17 17 q21.31 44450179 44500463 + 46372813 46423097 + 16344560 728806 AC138645;AC138688;AC217769;AC217777;DA240782;NR_033799 Hs.735097 1724995;1757099;2153628 RH118793;SHGC-144487;SHGC-31272 NSFP APPROVED pseudo HGNC:31405 PROVISIONAL 1352100 NSMAF neutral sphingomyelinase (N-SMase) activation associated factor This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009] 8 8 8 q12-q13 55489087 55565423 - 59496063 59572404 - 58583504 58659845 - 1580863;6480464;6484113 10601289;10640829;12391233;12477932;15653433;17599063;18653803;19913121;20562859;20628086;21906983;23382691;24130170;24816145;8808629;9620659 8439 E5RGF5;E5RGU2;Q92636 ABBA01041789;ABBA01041790;AC068522;AC092700;AK292679;AK294009;AK313991;AMYH02018033;BC041124;CH471068;DR005814;NM_001144772;NM_003580;X96586 AAH41124;BAF85368;BAG36703;BAG57371;CAA65405;EAW86817;NP_001138244;NP_003571;Q92636 Hs.372000 2138273;2138275;2155362;2179771 D8S1515;RH11476;SHGC-24319;STS-W93092 FAN OTTHUMP00000226511;OTTHUMP00000226512;factor associated with N-SMase activation;factor associated with neutral sphingomyelinase activation APPROVED protein-coding ENSG00000035681 HGNC:8017 09117 603043 REVIEWED 1350522 NSMCE1 non-SMC element 1 homolog (S. cerevisiae) ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN positive regulation of response to DNA damage stimulus; protein ubiquitination; FOUND IN cytoplasm; intracellular membrane-bounded organelle; nucleus; INTERACTS WITH 2-methylcholine; copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p12.1 26014952 26058084 - 27236315 27280113 - 27224994 27268792 - 737633;6480464 12477932 11042152;11927594;14701739;14702039;15489334;16055714;18086888;19471022;20360068;20864041;21139048;21364888;21890473;22992278;24816145;8889548 197370 H3BN81;H3BR31;H3BR73;H3BSL0;H3BV05;I3L1I3;Q8WV22 ABBA01017151;ABBA01017152;ABBA01017153;AC106739;AF161451;AF161455;AK056795;AK315674;AMYH02031763;AMYH02031764;AMYH02031765;BC018938;BU685363;CH471145;DB463393;NM_145080;XM_005255163;XM_006721023 AAF29011;AAF29015;AAH18938;BAG38039;EAW55754;EAW55755;EAW55756;EAW55757;EAW55758;NP_659547;Q8WV22;XP_005255220;XP_006721086 Hs.284295 1684822;2180212 RH65044;SHGC-60583 NSE1 OTTHUMP00000162452;non-structural maintenance of chromosomes element 1 homolog protein-coding ENSG00000169189 HGNC:29897 17648 VALIDATED 1319136 NSMCE4A non-SMC element 4 homolog A (S. cerevisiae) INVOLVED IN positive regulation of response to DNA damage stimulus; FOUND IN nucleus; Smc5-Smc6 complex; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine 10 10 10 q26.13 117448572 117466711 - 123716603 123734743 - 121957088 121975228 - 737633;6480464 12477932 14702039;15164054;15489334;15498874;15752197;16344560;18086888;20360068;20864041;21139048;21364888;21906983;23602568;24163370;24816145;8125298 54780 B4DWS2;Q9NXX6 ABBA01062852;ABBA01062853;AF258584;AK000010;AK056579;AK222487;AK301658;AK308687;AL731566;AMYH02023944;BC005212;BC062427;CH471066;DA567626;NM_001167865;NM_017615;XM_005269928;XM_005269929;XM_005269930;XR_428706 AAG23787;AAH05212;AAH62427;BAA90881;BAD96207;BAG63134;EAW49330;EAW49331;EAW49332;EAW49333;NP_001161337;NP_060085;Q9NXX6;XP_005269985;XP_005269986;XP_005269987 Hs.258798 1781264;1782058 SHGC-153329;stSG72444 C10orf86;FLJ20003;NS4EA;NSE4A;RP11-500G22.3;bA500G22;bA500G22.3 OTTHUMP00000020640;chromosome 10 open reading frame 86;non-structural maintenance of chromosomes element 4 homolog A protein-coding ENSG00000107672 HGNC:25935 16585 612987 VALIDATED 1606915 NSMCE2 non-SMC element 2, MMS21 homolog (S. cerevisiae) ENCODES a protein that exhibits SUMO ligase activity; INVOLVED IN cellular senescence; double-strand break repair via homologous recombination; positive regulation of maintenance of mitotic sister chromatid cohesion; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN chromosome, telomeric region; nucleus; PML body; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 8 8 8 q24.13 122293246 122568218 + 126104083 126379367 + 125091841 125367125 + 6480464;8554872 12477932;14702039;15489334;16055714;16810316;17207965;17589526;18086888;18163389;19471022;19502785;19549807;19666737;20339536;20360068;20379614;20460480;21139048;21550342;21693764;21890473;21906983;22751501;23000965;23398456 286053 E5RFJ1;E5RG00;E5RHW9;E5RIM1;E5RK09;H0YB96;Q96MF7 AA580621;ABBA01037908;ABBA01037909;ABBA01037910;ABBA01037911;ABBA01037912;ABBA01037913;ABBA01037914;ABBA01037915;ABBA01037916;AC084083;AC126366;AK057002;AMYH02018728;AMYH02018729;AMYH02018730;AMYH02018731;AMYH02018732;AMYH02018733;AX119125;BC032797;CB217595;CH471060;NM_173685;XM_005250875;XM_005250876 AAH32797;ADQ31599;BAB71338;CAC38636;EAW92083;EAW92084;NP_775956;Q96MF7;XP_005250932;XP_005250933 Hs.388297 1341422;1644938;1660159;1739359;1740127;1780220;1848073;1853522;2138801;2154167;2155601;2155603;2169906 A005O09;A009A17;D8S1461;D8S1571E;D8S1688;D8S371;G20371;RH11704;RH36272;RH36327;SHGC-154637;SHGC-33154;SHGC-56887 C8orf36;FLJ32440;MMS21;NSE2;ZMIZ7;hMMS21 E3 SUMO-protein ligase NSE2;MMS21 homolog;OTTHUMP00000228154;OTTHUMP00000228181;OTTHUMP00000228183;methyl methanesulfonate sensitivity gene 21;non-SMC element 2 homolog;non-structural maintenance of chromosomes element 2 homolog;zinc finger, MIZ-type containing 7 protein-coding ENSG00000156831 HGNC:26513 08131 VALIDATED 734170 NSFL1C NSFL1 (p97) cofactor (p47) N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011] 20 20 20 p13 1519162 1544783 - 1422807 1448345 - 1442162 1467692 - 6480464;6907045 10931946;11042152;11780052;12411482;12473691;12477932;12529442;12810701;14702039;15302935;15489334;16169070;16234241;16275660;16344560;16807242;17081983;18775313;18781797;19165527;19285159;19615732;20414249;21139048;21890473;21900206;21906983;21949850;21963094;21987572;22053931;22105171;22350894;22466964;22505724;22863883;22939629;22990857;23000965;23042607;23443559;23649807;24654937;24811749;24816145;8125298;9110174;9214505;9506515 55968 F2Z2K0;G3V4V8;Q53FE8;Q9UNZ2;R4GMY2;R4GNE6 AA948047;ABBA01053771;AF078856;AF086909;AF112211;AF283774;AK001511;AK023585;AK093845;AK128722;AK223334;AK223341;AK297403;AK315433;AL109658;AMYH02036566;BC002801;BE795675;BQ007132;CH471133;DB173022;DB202404;NM_001206736;NM_016143;NM_018839;NR_038164;XM_006723591;XM_006723592;XM_006723593;XM_006723594 AAD44488;AAF17199;AAH02801;AAP97139;ABM84115;ABM87512;BAA91731;BAC87590;BAD97054;BAD97061;BAG37821;BAG52771;BAG59842;EAX10627;EAX10628;EAX10629;EAX10630;EAX10631;EAX10632;NP_001193665;NP_057227;NP_061327;Q9UNZ2;XP_006723654;XP_006723655;XP_006723656;XP_006723657 Hs.12865 1680018;1773131;2114787;2120808;2120810;2124631;2138216;2172342;2219204 A006H16;D20S562E;D20S735;G20805;NSFL1C__6077;RH80523;SGC44590;WI-20603;Z94488 FLJ46889;MGC3347;P47;UBX1;UBXD10;UBXN2C;dJ776F14.1 NSFL1 cofactor p47;OTTHUMP00000029972;OTTHUMP00000029973;OTTHUMP00000029974;OTTHUMP00000029976;OTTHUMP00000159829;SHP1 homolog;UBX domain protein 2C;UBX domain-containing protein 2C;p97 cofactor p47 APPROVED protein-coding ENSG00000088833 HGNC:15912 09425 606610 REVIEWED 3129369 NSRP1P1 nuclear speckle splicing regulatory protein 1 pseudogene 1 1 1 1 76552367 76554058 + 78312793 78314484 + 77847108 77848799 + 100420557 ABBA01074393;AC138392;AMYH02001304;NG_022784 CCDC55P1 APPROVED pseudo HGNC:38087 INFERRED 733160 NSF N-ethylmaleimide-sensitive factor ENCODES a protein that exhibits PDZ domain binding; protein complex binding; ATPase activity (ortholog); INVOLVED IN positive regulation of receptor recycling; ATP catabolic process (ortholog); regulation of exocytosis (ortholog); PARTICIPATES IN vasopressin signaling pathway via receptor type 2; ASSOCIATED WITH Epilepsy, Temporal Lobe (ortholog); FOUND IN cytoplasm; extracellular vesicular exosome; lysosomal membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; cocaine 17 17 17 q21 41231619 41284321 + 44668035 44834830 + 46590669 46757464 + 1580863;5147998;6480464;6907045 11226670 10196135;10458612;10683148;10747018;10903204;10954749;11403936;11461150;11511104;11680900;12011465;12130635;12477932;12554740;1315316;14567912;14607937;14769786;15293277;15322554;15489334;15613468;15858065;16027165;16055064;16169070;16396496;16417406;16461345;16724110;17353931;17510209;17897319;18029348;18077426;18836734;19086053;19167335;19208619;19533740;19615732;19915575;20176016;20398908;20468064;20562859;20711177;21139048;21145461;21252943;21324905;21426264;21680744;21812969;21906983;22808325;22939629;23125841;23544013;23775070;23798571;24457600;24816145;7622514;8013662;8051214;8636227;8875895;8940356;8973549;9286697;9325254;9349823;9362506;9697855 4905 I3L0L3;I3L0N3;I3L2G1;I3L338;I3L4Q9;K7EQD6;P46459 ABBA01041103;ABBA01137586;AC004098;AC138645;AC138688;AC217769;AC217775;AC217778;AC217780;AC243659;AC243685;AC243906;AF102846;AF135168;AK226078;AK290204;AK294001;AK294727;AK294886;AK299031;AK299786;AK316057;BC013314;BC030613;BM451383;CH471231;CQ871246;DB460965;NM_006178;NR_040116;U03985;U80997;XM_006721929;XM_006725276;XM_006725626 AAA17411;AAF04745;AAF70545;AAG23890;AAH13314;AAH30613;BAF82893;BAG57363;BAG57874;BAG57980;BAG61667;BAH12933;BAH14428;CAH56804;EAW57706;EAW57707;NP_006169;P46459;XP_006721992;XP_006725339;XP_006725689 Hs.431279 1339226;1663789;1724995;1739499;1757099;2109579;2153628;5491975 D17S1703;D17S1931;D17S920;NSF-1;NSF_8513;RH118793;SHGC-144487;SHGC-31272 SKD2 N-ethylmaleimide-sensitive factor-like protein;N-ethylmaleimide-sensitive fusion protein;NEM-sensitive fusion protein;OTTHUMP00000166031;vesicle-fusing ATPase;vesicular-fusion protein NSF protein-coding ENSG00000073969 HGNC:8016 03380 601633 VALIDATED 1604770 NSRP1 nuclear speckle splicing regulatory protein 1 ENCODES a protein that exhibits mRNA binding; poly(A) RNA binding; INVOLVED IN developmental process; nucleocytoplasmic transport; regulation of alternative mRNA splicing, via spliceosome; FOUND IN nuclear speck; nucleus; ribonucleoprotein complex; INTERACTS WITH cadmium atom; clorgyline; cyclosporin A 17 17 17 q11.2 25305435 25375213 + 28443821 28513493 + 30116807 30186475 + 6480464 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16381901;16964243;17081983;19047128;19471022;19953087;21832049;22365833;22990118;23602568;23891004;23940030;24816145 84081 B7ZL27;H7BYM1;J3KT62;J3QLV5;J3QRI6;J3QS82;K7EK40;K7EMD8;K7EQJ6;K7ERM9;Q9H0G5 AA811439;ABBA01015004;ABBA01015005;AC104984;AF161358;AK094552;AK297102;AK313963;AL136806;AMYH02033268;AMYH02033269;BC016313;BC040118;BC046116;BC062425;BC105044;BC105046;BC143417;BC143539;CB957325;CH471159;CR533555;DC327004;NM_001261467;NM_032141 AAF28918;AAH16313;AAH40118;AAI05045;AAI05047;AAI43540;BAG36679;BAH12497;CAB66740;CAG38586;CAL37583;CAL37597;EAW51220;EAW51221;EAW51222;NP_001248396;NP_115517;Q9H0G5 Hs.462663 1678841;1683389;2179067 RH15872;RH28307;STS-T98371 CCDC55;DKFZp434K1421;FLJ37233;HSPC095;NSrp70 OTTHUMP00000163639;coiled-coil domain containing 55;coiled-coil domain-containing protein 55;nuclear speckle-related protein 70 APPROVED protein-coding ENSG00000126653 HGNC:25305 08536 VALIDATED 1351028 NSUN3 NOP2/Sun domain family, member 3 ENCODES a protein that exhibits methyltransferase activity (inferred); RNA binding (inferred); INVOLVED IN methylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH clorgyline; cyclosporin A; methyl methanesulfonate 3 3 3 q11.1 92165741 92229276 + 93781855 93845630 + 94063011 94126786 + 737633;6480464;8554872 12477932 17207965;19240061;21890473;24165912 63899 F8WF52;Q9H649 ABBA01026968;ABBA01026969;AC019233;AC130896;AC245469;AF169972;AK026262;BC018432;BC020602;BC057238;CH471052;NM_022072 AAH20602;AAH57238;AAQ13600;ADQ32107;BAB15417;EAW79893;EAW79894;NP_071355;Q9H649 Hs.448003 1674035;1678817;1681157;1681416;1686985;1755847;1770948;5109281 D1S1425;RH35958;RH41657;RH69243;RH80683;SHGC-142686;SHGC-33570;SHGC-36500 FLJ22109;FLJ22609;MST077;MSTP077 NOL1/NOP2/Sun domain family 3;NOL1/NOP2/Sun domain family member 3;NOL1/NOP2/Sun domain family, member 3;OTTHUMP00000213873;putative methyltransferase NSUN3 APPROVED protein-coding HGNC:26208 08657 PROVISIONAL 1348039 NSUN2 NOP2/Sun RNA methyltransferase family, member 2 This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011] 5 5 5 p15.31 6626418 6660533 - 6599352 6633473 - 6599239 6633360 - 737633;6480464;7240710;8554872;8699517 12477932 14702039;15302935;15345747;17071714;17148452;17215513;17620599;18029348;18781797;19471022;19596686;19596847;19738201;19740597;19913121;20360068;20379614;20628086;21139048;21145461;21252943;21693764;21853274;21890473;21906983;21963094;21987572;22136356;22395603;22505724;22541559;22541562;22577224;22586326;22589738;22623428;22863883;22939629;23000965;23862649;23871666;24250222;24654937;24816145;25027693 54888 Q08J23 AB255451;ABBA01016148;AC010366;AC027334;AK000310;AK023994;AK055456;AK291144;AK298980;AMYH02010806;BC001041;BC137083;BF000644;BG387061;BQ689094;CH471102;NG_028215;NM_001193455;NM_017755;NR_037947 AAH01041;AAI37084;BAA91075;BAB14762;BAF34150;BAF83833;BAG51521;BAG61074;EAX08105;EAX08106;EAX08107;NP_001180384;NP_060225;Q08J23 Hs.481526 1675716;2163764 D5S2678;RH92904 FLJ20303;MISU;MRT5;SAKI;TRM4;hTrm4 5-methycytoisine methyltransferase;Myc-induced SUN-domain-containing protein;NOL1/NOP2/Sun domain family 2;NOL1/NOP2/Sun domain family member 2;NOL1/NOP2/Sun domain family, member 2;NOP2/Sun domain family, member 2;OTTHUMP00000115518;OTTHUMP00000220641;mental retardation, non-syndromic, autosomal recessive, 5;myc-induced SUN domain-containing protein;substrate of AIM1/Aurora kinase B;tRNA (cytosine(34)-C(5))-methyltransferase;tRNA (cytosine-5-)-methyltransferase NSUN2;tRNA methyltransferase 4 homolog APPROVED protein-coding ENSG00000037474 HGNC:25994 08620 610916;611091 REVIEWED 1343230 NSUN4 NOP2/Sun domain family, member 4 ENCODES a protein that exhibits methyltransferase activity; INVOLVED IN rRNA methylation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrial large ribosomal subunit; INTERACTS WITH 2-methylcholine; hydralazine; theophylline 1 1 1 p34 45093753 45118052 + 46805849 46830824 + 46340177 46365152 + 6480464;8554872 12477932;14702039;16189514;16344560;19086053;19322201;20186120;20467438;20562859;21890473;22949673;8889548 387338 A8K8I8;M0R1K5;Q96CB9 ABBA01050840;AK021577;AK057420;AK097524;AK128066;AK291741;AK292353;AK295003;AK311009;AL122001;AMYH02000957;AMYH02000958;AMYH02000959;BC014441;BC016907;BE542166;BG821302;BM153143;BM665392;BM888153;BM994678;BU536211;BX360729;BX648592;CF593490;CH471059;DA799314;DA905308;NM_001256127;NM_001256128;NM_199044;NR_045789;NR_045790;NR_045791 AAH14441;AAH16907;BAB13847;BAC87258;BAF84430;BAF85042;BAG51912;BAG53482;BAG58065;EAX06917;EAX06920;NP_001243056;NP_001243057;NP_950245;Q96CB9 Hs.163424 1662308;1664289;2119347;2132942;2173493;5017227;5020740;5037552 Cda0gf06;D1S2196;D1S2603;D8S2279;G38154;L17809;SHGC-74783;SHGC-74793 FLJ18051;MGC22960;RP4-603I14.2;SHTAP 5-methylcytosine rRNA methyltransferase NSUN4;NOL1/NOP2/Sun domain family 4;NOL1/NOP2/Sun domain family member 4;NOL1/NOP2/Sun domain family, member 4;OTTHUMP00000009478;putative methyltransferase NSUN4;sperm head and tail associated protein APPROVED protein-coding HGNC:31802 14842 615394 VALIDATED 1604983 NSUN5P1 NOP2/Sun domain family, member 5 pseudogene 1 This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 7 7 q11.23 75039605 75046071 + 75410322 75416792 + 6480464 11978965;12073013;12477932;14702039;15489334;16344560 155400 Q3KNT7 AC006014;AC211429;AF416610;AI265798;AK094312;AK126486;AK128374;AW575486;BC044928;BC065512;BC080602;BC088379;BC093978;BC103750;BC107112;BG741008;BX400367;DB270164;NR_033322;NR_104013 AAH93978;AAI07113;AAM62318;BAG52857;BAG54336;BAG54668;Q3KNT7 Hs.436034 1665971;1672615;1754003;5019194;5126315;5126783;5127148;5127388;5493011 D7S2868;GDB:1318657;GDB:4584996;GDB:4585069;GDB:4585440;RH104432;RH10987;SHGC-132050;UniSTS:483688 FLJ99347;MGC129801;NSUN5B;WBSCR20B APPROVED pseudo ENSG00000223705 HGNC:19146 15656 VALIDATED 1606412 NSUN5P2 NOP2/Sun domain family, member 5 pseudogene 2 This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. There is extensive alternative splicing at this locus. [provided by RefSeq, Jul 2013] 7 7 7 q11.23 340 2949 + 72418832 72425302 - 72948293 72954763 - 6480464 11978965;12073013;12477932;14702039;15489334;16344560;21906983 260294 Q3KNT8;Q63ZY6 ABBA01186092;AC005488;AC211476;AF416611;AF420250;AK021688;AK292107;AK303622;AK315927;AL117583;AL833016;BC007488;BC050591;BC056405;BC066297;BC082753;BC093976;BC101515;BC106049;BC107111;DA017627;NR_033323 AAH56405;AAH82753;AAH93976;AAI01516;AAI06050;AAI07112;AAL16068;AAM62319;BAB13875;BAF84796;BAG64631;BAH14298;CAH56289;Q63ZY6 Hs.510927;Hs.655217 1665971;1672615;1754003;1790403;5019194;5096546;5125662;5126315;5126783;5127148;5493011 D7S2868;D7S3263;GDB:4584996;GDB:4585069;GDB:4585440;RH104432;RH10987;SHGC-132050;STS-W72988;UniSTS:483688;WI-20883 DKFZp434K058;DKFZp666P104;FLJ11626;MGC129801;MGC15057;NOL1R2;NSUN5C;WBSCR20B;WBSCR20C APPROVED pseudo ENSG00000106133 HGNC:16609 15657 VALIDATED 735900 NRXN2 neurexin 2 This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010] 11 11 11 q13 61699904 61817112 - 64373646 64490660 - 64606174 64723188 - 1580863;6480464;8554872 10231032;11944992;12036300;12168954;12421765;12477932;14702039;15491607;16169070;1621094;16554811;18923512;18950845;19086053;19523119;20139978;20634891;21424692;21768215;21900206;22797727;23263486;8576240;8786425;9647694;9707552;9888998 9379 G5E9G7;H7BZC7;H7C2R8;H7C3D6;H7C3J4;P58401;Q9P2S2 AB023138;AB035266;AB177862;ABBA01024148;ABBA01024149;ABBA01024150;AC044790;AK098211;AMYH02024939;AMYH02024940;AP001092;AP001462;BC150275;CH471076;NM_015080;NM_138732;NM_138734;XM_005274400;XM_005274401;XM_005274402;XM_005274406;XM_006718742;XM_006718743;XM_006718744;XM_006718745;XM_006718746;XM_006718747;XM_006718748;XM_006718749;XR_428930;XR_428931 AAI50276;AAK68154;BAA76765;BAA94075;BAD66840;EAW74277;EAW74278;EAW74279;EAW74280;NP_055895;NP_620060;NP_620063;P58401;Q9P2S2;XP_005274457;XP_005274458;XP_005274459;XP_005274463;XP_006718805;XP_006718806;XP_006718807;XP_006718808;XP_006718809;XP_006718810;XP_006718811;XP_006718812 Hs.372938 1655067;1737017;1737137;1741937;1773882;1777954;1797932;1799202;1799240;1799422;1799514;1799566;1799778;1800038;1800236;1800536;1800538;1800594;1800724;1800778;1800780;1801108;1801420;1801680;1801682;1801684;1802062;1802102;1802432;1802434;1802584;1802700;1802768;1802938;1803174;1803176;1803952;1804534;1804744;1805154;1805442;1805696;1805760;1806310;1806496;1806570;1807068;1807192;1807194;1807330;1807332;1807678;1807724;1807934;1808426;1808568;1808716;1808852;1809538;1809604;1809666;1809818;1809992;1810592;1810740;1810820;1811768;1811850;1811852;1812612;1812702;1812704;1812978;1813282;1813440;1814246;1814322;1815130;1815210;1815292;1815294;1815516;1815592;1815674;1816004;1816172;1816356;1816434;1816604;1816676;1816890;1817590;1818718;1819434;1819550;1820100;1820960;1820962;1821508;1821700;1822954;1823486;1823562;1823992;1824540;1824542;1826048;1826136;1826562;1826846;1827946;1828040;1828042;1828204;1828580;1828582;1828940;1831456;1832894;1833798;1834248;1834766;1835018;1835184;1835556;1836570;1836614;1837002;1837384;1838240;1838406;1838408;1838610;1839698;1840190;1841408;1842310;1843124;1843126;1843570;1845932;1969624;1969626;1969628;1969630;1969632;1969634;1969636;1969638;1969640;1969642;1969644;1969646;1969648;1969650;1969652;1969654;1969656;1969658;1969660;1969662;1969664;1969666;1969668;1969670;1969672;1969674;1969676;1969678;1969680;1969682;1969684;1969686;1969688;1969690;1969692;1969694;1969696;1969698;1969700;1969702;1969704;1969706;1969708;1969710;1969712;1969714;1969716;1969718;1969720;1969722;1969724;1969726;1969728;1969730;1969732;1969734;1969736;1969738;1969740;1969742;1969744;1969746;1969748;1969750;1969752;1969754;1969756;1969758;1969760;1969762;1969764;1969766;1969768;1969770;1969772;1969774;1969776;1969778;1969780;1969782;1969784;1969786;1969788;1969790;1969792;1969794;1969796;1969798;1969800;1969802;1969804;1969806;1969808;1969810;1969812;1969814;1969816;1969818;1969820;1969822;1969824;1969826;1969828;1969830;1969832;1969834;1969836;1969838;1969840;1969842;1969844;1969846;1969848;1969850;1969852;1969854;1969856;1969858;1969860;1969862;1969864;1969866;1969868;1969870;1969872;1969874;1969876;1969878;1969880;1969882;1969884;1969886;1969888;1969890;1969892;1969894;1969896;1969898;1969900;1969902;1969904;1969906;1969908;1969910;1969912;1969914;1969916;1969918;1969920;1969922;1969924;1969926;1969928;1969930;1969932;1969934;1969936;1969938;1969940;1969942;1969944;1969946;1969948;1969950;1969952;1969954;1969956;1969958;1969960;1969962;1969964;1969966;1969968;1969970;1969972;1969974;1969976;1969978;1969980;1969982;1969984;1969986;1969988;1969990;1969992;1969994;1969996;1969998;1970000;1970002;1970004;1970006;1970008;1970010;1970012;1970014;1970016;1970018;1970020;1970022;1970024;1970026;1970028;1970030;1970032;1970034;1970036;1970038;1970040;1970042;1970044;1970046;1970048;1970050;1970052;1970054;1970056;1970058;1970060;1970062;1970064;1970066;1970068;1970070;1970072;1970074;1970076;1970078;1970080;1970082;1970084;1970086;1970088;1970090;1970092;1970094;1970096;1970098;1970100;1970102;1970104;1970106;1970108;1970110;1970112;1970114;1970116;1970118;1970120;1970122;1970124;1970126;1970128;1970130;1970132;1970134;1970136;1970138;1970140;1970142;1970144;1970146;1970148;1970150;1970152;1970154;1970156;1970158;1970160;1970162;1970164;1970166;1970168;1970170;1970172;1970174;1970176;1970178;1970180;1970182;1970184;1970186;1970188;1970190;1970192;1970194;1970196;1970198;1970200;1970202;1970204;1970206;1970208;1970210;1970212;1970214;1970216;1970218;1970220;1970222;1970224;1970226;1970228;1970230;1970232;1970234;1970236;1970238;1970240;1970242;1970244;1970246;1970248;1970250;1970252;1970254;1970256;1970258;1970260;1970262;1970264;1970266;1970268;1970270;1970272;1970274;1970276;1970278;1970280;1970282;1970284;1970286;1970288;1970290;1970292;1970294;1970296;1970298;1970300;1970302;1970304;1970306;1970308;1970310;1970312;1970314;1970316;1970318;1970320;1970322;1970324;1970326;1970328;1970330;1970332;1970334;1970336;1970338;1970340;1970342;1970344;1970346;1970348;1970350;1970352;1970354;1970356;1970358;1970360;1970362;1970364;1970366;1970368;1970370;1970372;1970374;1970376;1970378;1970380;1970382;1970384;1970386;1970388;1970390;1970392;1970394;1970396;1970398;1970400;1970402;1970404;1970406;1970408;1970410;1970412;1970414;1970416;1970418;1970420;1970422;1970424;1970426;1970428;1970430;1970432;1970434;1970436;1970438;1970440;1970442;1970444;1970446;1970448;1970450;1970452;1970454;1970456;1970458;1970460;1970462;1970464;1970466;1970468;1970470;1970472;1970474;1970476;1970478;1970480;1970482;1970484;1970486;1970488;1970490;1970492;1970494;1970496;1970498;1970500;1970502;1970504;1970506;1970508;1970510;1970512;1970514;1970516;1970518;1970520;1970522;1970524;1970526;1970528;1970530;1970532;1970534;1970536;1970538;1970540;1970542;1970544;1970546;1970548;1970550;1970552;1970554;1970556;1970558;1970560;1970562;1970564;1970566;1970568;1970570;1970572;1970574;1970576;1970578;1970580;1970582;1970584;1970586;1970588;1970590;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105;REN56106;REN56107;REN56108;REN56109;REN56110;REN56111;REN56112;REN56113;REN56114;REN56115;REN56116;REN56117;REN56118;REN56119;REN56120;REN56121;REN56122;REN56123;REN56124;REN56125;REN56126;REN56127;REN56128;REN56129;REN56130;REN56131;REN56132;REN56133;REN56134;REN56135;REN56136;REN56137;REN56138;REN56139;REN56140;REN56141;REN56142;REN56143;REN56144;REN56145;REN56148;REN56149;REN56150;REN56151;REN56152;REN56153;REN56154;REN56155;REN56156;REN56157;REN56158;REN56159;REN56160;REN56161;REN56162;REN56163;REN56164;REN56165;REN56166;REN56167;REN56168;REN56169;REN56170;REN56171;REN56172;REN56173;REN56174;REN56175;REN56176;REN56177;REN56178;REN56179;REN56180;REN56181;REN56182;REN56183;REN56184;REN56185;REN56186;REN56187;REN56188;REN56189;REN56190;REN56191;REN56192;REN56193;REN56194;REN56195;REN56196;REN56197;REN56198;REN56199;REN56200;REN56201;REN56202;stSG635539;stSG635540;stSG635541;stSG635542;stSG635543;stSG635544;stSG635545;stSG635546;stSG635547;stSG635548;stSG635551;stSG635552;stSG635553;stSG635554;stSG635555;stSG635556;stSG635557;stSG635558;stSG635559;stSG635560;stSG635562;stSG635563;stSG635564;stSG635565;stSG635566;stSG635569;stSG635570;stSG635571;stSG635572;stSG635574;stSG635575;stSG635582;stSG635583;stSG635584;stSG635585;stSG635586;stSG635590;stSG635593;stSG635595;stSG635598;stSG635599;stSG635600;stSG635602;stSG635603;stSG635605;stSG635606;stSG635608;stSG635609;stSG635610;stSG635611;stSG635613;stSG635614;stSG635615;stSG635616;stSG635618;stSG635620;stSG635621;stSG635622;stSG635627 FLJ40892;KIAA0921 OTTHUMP00000042666;OTTHUMP00000069170;OTTHUMP00000069171;OTTHUMP00000202846;neurexin II;neurexin II-alpha;neurexin II-beta;neurexin-2-alpha;neurexin-2-beta APPROVED protein-coding ENSG00000110076 HGNC:8009 11859 600566 REVIEWED 1349655 NT3 3'-nucleotidase 4877 HGNC:8020 613589 1349612 NSX N syndrome (mental retardation, malformations, chromosome breakage) ASSOCIATED WITH N syndrome (inferred) 7240710 4906 HGNC:8019 310465 1353894 NT5C 5', 3'-nucleotidase, cytosolic This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011] 17 17 17 q25.1 69718700 69720253 - 73126320 73127890 - 75130225 75131795 - 1580863;6480464;6907045;8554872 10681516;10899995;12234672;12418222;12477932;12714505;14702039;15136231;15489334;17207965;18029348;19056867;20877624;2157703;21906983;24250222;2833155;3186746 30833 J3KRC4;J3KSF0;J3KSX6;J3KSY6;J3QQX8;Q8TCD5;V9HWF3 ABBA01028816;AC022211;AF154829;AK000419;AMYH02033983;BC002516;BC008183;BC017454;BC022334;BC047763;BG034032;BK000192;BQ431723;BU627693;CH471099;EU794640;NM_001252377;NM_014595;NR_045513;XM_006721850;XM_006721851;XR_429885;XR_429886;XR_429887 AAF36534;AAH08183;AAH17454;AAH22334;ACJ13694;ADQ32487;BAA91151;DAA00070;EAW89241;EAW89242;EAW89243;NP_001239306;NP_055410;Q8TCD5;XP_006721913;XP_006721914 Hs.67201 2179775 RH15966 DNT;DNT1;HEL74;P5N2;PN-I;PN-II;UMPH2;cdN;dNT-1 5' nucleotidase, deoxy (pyrimidine), cytosolic type C;5'(3')-deoxyribonucleotidase, cytosolic type;cytosolic 5',3'-pyrimidine nucleotidase;deoxy-5'-nucleotidase 1;epididymis luminal protein 74;uridine 5'-monophosphate phosphohydrolase 2;uridine 5-prime monophosphate hydrolase 2 APPROVED protein-coding ENSG00000125458 HGNC:17144 11833 191720 REVIEWED 1322084 NT5C1A 5'-nucleotidase, cytosolic IA Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008] 1 1 1 p34.3-p33 38406541 38419451 - 40124793 40137710 - 39659121 39672038 - 1580863;6480464;6907045 11133996;11690631;12477932;15489334;15888028;16710414;17065091;19352542;19451621;21873433 84618 Q9BXI3 ABBA01023205;ABBA01023206;AF331801;AL035404;AMYH02000837;AY028778;BC103879;BC103880;CH471059;NM_032526 AAI03880;AAI03881;AAK01294;AAK30000;EAX07259;NP_115915;Q9BXI3 Hs.307006 1732936 D1S1334 CN-I;CN-IA;CN1;CN1A;CNI;MGC119199;MGC119201 AMP-specific 5'-NT;OTTHUMP00000010831;cytosolic 5' nucleotidase, type 1A;cytosolic 5'-nucleotidase 1A;cytosolic 5'-nucleotidase IA APPROVED protein-coding ENSG00000116981 HGNC:17819 14844 610525 PROVISIONAL 1602865 NSUN7 NOP2/Sun domain family, member 7 ENCODES a protein that exhibits methyltransferase activity (inferred); RNA binding (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; arsenite(3-) 4 4 4 p14 41194556 41255316 + 40751914 40812002 + 40749897 40809985 + 6480464 12477932;14702039;17207965;17442852 79730 Q8NE18 ABBA01014256;ABBA01014257;ABBA01014258;AC131953;AK024063;AK094298;AK304048;AMYH02009085;BC036568;BC042401;CH471069;NM_024677 AAH36568;ADQ32516;BAB14808;BAC04325;BAG64958;EAW92970;EAW92971;EAW92972;EAW92973;NP_078953;Q8NE18 Hs.570821 1660287;1685862;1708990 RH98348;SHGC-79559;STS-N27935 FLJ14001 NOL1/NOP2/Sun domain family member 7;NOL1/NOP2/Sun domain family, member 7;OTTHUMP00000158753;OTTHUMP00000158754;putative methyltransferase NSUN7 APPROVED protein-coding ENSG00000179299 HGNC:25857 07846 VALIDATED 1319518 NSUN5 NOP2/Sun domain family, member 5 This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 7 7 7 q11.23 68194805 68201154 - 72716513 72722864 - 73302516 73308867 - 6480464;8554872 11978965;12073013;12477932;12853948;14702039;15146197;15302935;15489334;16712791;21139048;21890473;21906983;21963094;22505724;22797925;22939629;24654937;9847074 55695 H7C2G6;Q96P11 ABBA01063963;AC073841;AC211485;AF412028;AF420249;AK001129;AK098619;AK125667;AK126375;AK298221;AK315361;BC008084;BM144254;CB154882;CH471200;CN418523;CS072322;CX866878;EC442348;NM_001168347;NM_001168348;NM_018044;NM_148956;XM_005277604;XR_242255 AAH08084;AAL16067;AAM62310;AAQ96838;AAQ96839;ABM83920;ABM87241;BAA91515;BAG37756;BAG54316;BAG60491;CAI93460;EAW69692;EAW69694;EAW69695;EAW69696;NP_001161819;NP_001161820;NP_060514;NP_683759;Q96P11;XP_005277661 Hs.510927;Hs.647060;Hs.655217 2115167;5019194;5096546;5125662;5126315;5127148 GDB:4584996;RH104432;RH10987;SHGC-56093;STS-W72988;WI-20883 FLJ10267;MGC986;NOL1;NOL1R;NSUN5A;WBSCR20;WBSCR20A;Ynl022cL;p120 NOL1-related protein;NOL1/NOP2/Sun domain family member 5;NOL1/NOP2/Sun domain family, member 5;NOP2/Sun domain family, member 5A;OTTHUMP00000160309;OTTHUMP00000160310;OTTHUMP00000210652;OTTHUMP00000210653;Williams Beuren syndrome chromosome region 20A;Williams-Beuren syndrome critical region protein 20 copy A;putative methyltransferase NSUN5;williams-Beuren syndrome chromosomal region 20A protein APPROVED protein-coding ENSG00000130305 HGNC:16385 11678 615732 REVIEWED 1348422 NT5C3AP1 5'-nucleotidase, cytosolic IIIA pseudogene 1 4 4 4 q26 115787583 115789275 - 118495644 118497341 - 117574489 117576186 - 11369620;9847074 90859 ABBA01063868;AC092661;AMYH02009981;NG_000948 1811330;1812254;1823880;1829954;1869360;1869362;1869364;1869366;1869368;1869370;1869372;1869374;1869376;1869378;1869380;1869382;1869384;1869386;1869388;1869390;1869392;2116307;2198460 ECD06663;ECD07134;ECD13033;ECD16110;REN5350;REN5351;REN5352;REN5353;REN5354;REN5355;REN5356;REN5357;REN5358;REN5359;REN5360;REN5361;REN5362;REN5363;REN5364;REN5365;REN5366;RH16522;stSG618294 NT5C3P1;UMPH1P APPROVED pseudo HGNC:18530 INFERRED 733597 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 9 9 9 q34.3 110868305 110878574 - 140342022 140353808 - 137447570 137459356 - 737633;6480464;8699517;8554872;7240710 12477932 10199401;10898796;11230166;14702039;15146197;15164053;15362570;15489334;16169070;16565220;16713569;18463157;19245807;19489874;20025934;21300340;23884411;24316376 26012 Q5T358;Q5T359;Q6X4W1 ABBA01022773;ABBA01022774;AJ420418;AK027474;AK074602;AK292030;AK294320;AK303703;AK303976;AK316046;AL117660;AL365502;AL389944;AL389945;AL389946;AMYH02021937;AW072125;AY255128;AY255129;AY255130;AY255131;AY255132;BC004318;BC016862;BC072412;BC110498;BM023184;CH471090;CN306732;CQ782572;NG_021362;NM_001130969;NM_001130970;NM_001130971;NM_001178064;NM_015537;XM_005266061;XM_005266062 AAH04318;AAH16862;AAH72412;AAI10499;AAP83576;AAP83577;AAP83578;AAP83579;AAP83580;BAB55139;BAC11086;BAF84719;BAG57594;BAG64688;BAH14089;BAH14417;CAB56031;CAB97524;CAB97525;CAB97542;CAF85849;EAW88390;EAW88391;EAW88392;EAW88393;EAW88394;NP_001124441;NP_001124442;NP_001124443;NP_001171535;NP_056352;Q6X4W1;XP_005266118;XP_005266119 Hs.455336 1660445;1796400 IB1002;NELF_1409 HH9;MGC125369;NELF;RP11-48C7.1 OTTHUMP00000022698;OTTHUMP00000022699;nasal embryonic LHRH factor;nasal embryonic luteinizing hormone-releasing hormone factor APPROVED protein-coding ENSG00000165802 HGNC:29843 10485 608137;614838 REVIEWED 1602442 NT5C3B 5'-nucleotidase, cytosolic IIIB ENCODES a protein that exhibits 5'-nucleotidase activity (inferred); magnesium ion binding (inferred); nucleotide binding (inferred); INVOLVED IN dephosphorylation (inferred); nucleotide metabolic process (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH disodium selenite; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 17 17 17 q21.2 36632678 36643864 - 39981334 39992523 - 41825082 41836271 - 6480464 12477932;15146197;17207965;20706999;23223233 115024 C9IZA4;C9J758;E5RH64;E5RJR6;Q969T7;U3KQB1 AA730137;ABBA01006449;ABBA01006450;AC091172;AC125257;AMYH02033414;BC013742;BC014132;BC016971;BC067788;BE296438;BF339623;BI914049;BI917511;BX365588;BX438861;BX460247;CB045324;CH471152;CN393115;DR159341;NM_052935;NR_033464;NR_033465;R61279;XM_006721668;XM_006721669;XM_006721670 AAH13742;AAH14132;AAH16971;AAH67788;ADQ31613;EAW60771;EAW60772;EAW60773;NP_443167;Q969T7;XP_006721731;XP_006721732;XP_006721733 Hs.237536 1710698;2144227 D17S1420E;SHGC-79629 MGC20781;MGC21375;NT5C3L 5'-nucleotidase, cytosolic III-like;7-methylguanosine nucleotidase;7-methylguanosine phosphate-specific 5'-nucleotidase;N(7)-methylguanylate 5'-phosphatase;OTTHUMP00000164752;OTTHUMP00000164753;OTTHUMP00000164754;OTTHUMP00000164755;OTTHUMP00000164756;OTTHUMP00000227604;cN-III-like protein;cytosolic 5'-nucleotidase 3B;cytosolic 5'-nucleotidase III-like protein APPROVED protein-coding HGNC:28300 14475 VALIDATED 1353333 NT5CP1 5',3'-nucleotidase, cytosolic pseudogene 1 14 14 14 q24.3 54073798 54074453 - 74037701 74038356 - 73570997 73571652 - 9847074 326609 ABBA01030752;AC005225;AC245368;NG_002598 1740767 D14S1209 pseudo HGNC:20046 INFERRED 1349114 NT5CP2 5',3'-nucleotidase, cytosolic pseudogene 2 14 14 14 q24.3 33183015 33183872 + 74005679 74006536 - 73538975 73539832 - 9847074 326611 ABBA01030756;AC005225;AC245368;NG_002599 1740767 D14S1209 pseudo HGNC:20047 INFERRED 5130584 NT5CP3 5',3'-nucleotidase, cytosolic pseudogene 3 13 13 13 51389000 51389520 - 70486996 70487516 - 69912864 69913384 - 100420457 ABBA01050311;AL353738;AMYH02028217;NG_024866 pseudo HGNC:39789 INFERRED 5013866 NT5C1B-RDH14 NT5C1B-RDH14 readthrough This locus represents naturally occurring read-through transcription between the neighboring NT5C1B (5'-nucleotidase, cytosolic IB) and RDH14 (retinol dehydrogenase 14) genes on chromosome 2. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] 2 2 p 18735989 18770846 - 18554723 18589580 - 6480464;8554872 14702039;20967262;23000965 100526794 C9J2C7;Q96P26 ABBA01018502;AC079148;AK057444;AK307653;AMYH02003352;NM_001199103;NM_001199104 BAB71489;NP_001186032;NP_001186033 Hs.744358 1698672;2219618 RDH14__5475;RH102895 FLJ32882;FLJ97601 NT5C1B-RDH14 read-through transcript;OTTHUMP00000200496;OTTHUMP00000220360 APPROVED protein-coding HGNC:38831 VALIDATED 1344487 NSUN6 NOP2/Sun domain family, member 6 ENCODES a protein that exhibits methyltransferase activity (inferred); RNA binding (inferred); INVOLVED IN methylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 10 10 10 p12.31 18521149 18626065 - 18834264 18948180 - 18654866 18659238 - 1580863;6480464;8554872 12477932;14702039;15164054;15489334;16344560;17207965;19322201;20379614;21044367;23974872;24816145 221078 Q8TEA1 ABBA01034535;ABBA01034536;ABBA01034537;AI689762;AK074323;AL450384;AL512641;AL698095;AMYH02022378;AMYH02022379;AMYH02022380;BC035778;BC047402;BF434081;BU860850;CH471072;DA332885;DA841900;DB012566;EF445003;HG502721;HY169016;NM_182543;XM_005252394;XM_005252397;XM_005252398;XM_005252399;XM_006717400;XR_428678 AAH35778;ACA06032;ACA06033;ADQ31757;BAB85051;EAW86191;EAW86192;NP_872349;Q8TEA1;XP_005252451;XP_005252454;XP_005252455;XP_005252456;XP_006717463 Hs.396175;Hs.655091;Hs.731893 1340045;1647303;1721951;1733554;2159770;5128145 D10S1714;DXS6770;G59861;RH45948;SHGC-152479;STS-N53476 4933414E04Rik;ARL5B-AS1;FLJ23743;NOPD1 ARL5B antisense RNA 1;NOL1/NOP2/Sun and PUA domain-containing protein 1;NOL1/NOP2/Sun domain family 6;NOL1/NOP2/Sun domain family member 6;NOL1/NOP2/Sun domain family, member 6;OTTHUMP00000019261;nucleolar protein (NOL1/NOP2/sun) and PUA domains 1;putative methyltransferase NSUN6 APPROVED protein-coding ENSG00000152487;ENSG00000241058 HGNC:23529 14843 VALIDATED 1601740 NT5DC2 5'-nucleotidase domain containing 2 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 3 3 3 p21.1 52537844 52548598 - 52558385 52569093 - 52524369 52535077 - 6480464 12477932;14702039;15489334;16344560;20811636;21139048;21145461;21890473;21903422;21926972;23974872;8619474;8889548;9110174 64943 C9J036;F8WEY1;H7C4G8;H7C519;Q9H857 ABBA01024505;ABBA01024506;AC112215;AF131781;AK022504;AK023995;AK092469;AMYH02006804;AMYH02006805;AW510639;BC014550;BC047747;BM982658;CH471055;DA013090;DB265466;DR003312;NM_001134231;NM_022908;XM_005265406;XM_006713303;XM_006713304;XM_006713305 AAD20044;AAH14550;BAB14064;BAB14763;EAW65236;EAW65237;NP_001127703;NP_075059;Q9H857;XP_005265463;XP_006713366;XP_006713367;XP_006713368 Hs.84753 1681642;2115434 RH93758;SHGC-76998 FLJ12442 5'-nucleotidase domain-containing protein 2;OTTHUMP00000213160;OTTHUMP00000213195;OTTHUMP00000213220;OTTHUMP00000213343;OTTHUMP00000225828 protein-coding ENSG00000168268 HGNC:25717 07770 VALIDATED 1602220 NT5DC3 5'-nucleotidase domain containing 3 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); FOUND IN receptor complex; INTERACTS WITH (+)-catechin; 5-aza-2'-deoxycytidine; cisplatin 12 12 12 q22-q23.1 103830372 103899271 - 104166081 104234975 - 103772303 103841197 - 6480464 12477932;14702039;15547748;15827139;18839057;19322201;21878436 51559 H7C193;H7C3S8;Q86UY8 AB032773;AB032786;ABBA01053212;AC012555;AC025265;AK002128;AMYH02027086;AMYH02027087;BC052293;CH471054;NM_001031701 AAH52293;BAA92095;BAA93053;BAA93086;EAW97715;EAW97716;EAW97717;EAW97718;NP_001026871;Q86UY8 Hs.48428 1339239;1649530;1670240;1680415;1690260;1744009;1746303;1746411;1746451;1757503;1764753;1789094;2115617;2122617;5015961;5022322;5022578;5037552 A004F42;D11S2560;D12S1255;D12S1326;D12S78;D15S1477;D1S1423;D8S2279;G64553;G64554;G64598;G65716;GDB:384824;RH75122;RH93977;SHGC-144880;SHGC-148332;SHGC-53713 FLJ11266;GNN;TU12B1-TY;TU12B1TY 5'-nucleotidase domain-containing protein 3;GRP94-neighboring nucleotidase;OTTHUMP00000211311 protein-coding ENSG00000111696 HGNC:30826 18241 611076 VALIDATED 1320058 NT5M 5',3'-nucleotidase, mitochondrial This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18146276 18190449 + 17206680 17250977 + 17303366 17347663 + 1580863;6480464;6907045 10899995;12124385;12352955;12477932;15489334;16004879;20877624 56953 J3QLR5;J3QRN4;K7EPW8;Q2I378;Q9NPB1 ABBA01009760;ABBA01009761;ABBA01009762;ABBA01009763;ABBA01009764;AC006071;AF210652;AJ277557;AL526346;AMYH02033088;AMYH02033089;BC035838;CH471196;DQ323995;NM_020201;XM_005256731;XM_005256732;XM_005256733;XM_005256734;XM_005256737 AAF87076;AAH35838;ABC88597;CAB99251;EAW55710;NP_064586;Q9NPB1;XP_005256788;XP_005256789;XP_005256790;XP_005256791;XP_005256794 Hs.513977 1664317;1736644;2109583 D17S1483E;NT5M__6079;WI-11472 dNT-2;dNT2;mdN 5' nucleotidase, mitochondrial;5'(3')-deoxyribonucleotidase, mitochondrial;5(3)-deoxyribonucleotidase;OTTHUMP00000065515;deoxy-5'-nucleotidase 2;mitochondrial 5' nucleotidase APPROVED protein-coding ENSG00000205309 HGNC:15769 12009 605292 REVIEWED 734028 NT5E 5'-nucleotidase, ecto (CD73) The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 6 6 6 q14-q21 86586482 86632679 + 86159302 86205509 + 85449584 85495791 + 1581647;1580863;1300048;5134348;5134343;5134344;6480464;6484113;6907045;7240710;8554872;8699517 15699053;16274951;19723569;21337375 10470109;10570953;10898423;11004484;11046060;11067892;11149913;11163406;12000134;12030367;12170585;12477932;12774669;12892649;14578500;16303743;16344560;16709165;16718268;16735966;17065075;17487388;17671792;17911479;18029348;18062933;18566412;18636315;18787389;18924612;19008478;19056867;19536092;19581412;19956800;20392501;20476579;20628624;20874842;20977463;21057730;21092450;21288095;2129526;21346249;2137649;21638125;21677139;21732280;2173922;21886157;21906983;21933152;21998208;22040959;22184407;22287455;22454080;22553809;22833450;22936677;22939629;23094051;23122642;23142347;23192044;23288168;23315321;23333304;23423261;23508889;23569336;23584256;23625284;23653114;23729294;23737488;23880765;24310606;2848759;3036115;8000038;819433;8566797;8781432;9015312;9113412;9169488;9238677;9361795;9553767;9651114 4907 H0Y3X5;H0Y7R7;P21589;Q6NZX3;Q96B60 ABBA01040476;AF069067;AK075008;AK075083;AK314661;AL135903;AL589666;AMYH02014038;AY351432;BC015940;BC065937;BQ019358;CH471051;CQ782997;DA574510;DQ186653;JC231864;NG_028214;NM_001204813;NM_002526;U21730;X55740 AAA96950;AAC98672;AAH15940;AAH65937;AAQ21035;ABA39834;BAG37219;BAG52050;BAG52063;CAA39271;CAF86213;CDM22274;EAW48634;EAW48635;EAW48636;NP_001191742;NP_002517;P21589 Hs.153952 1659793;1683469;1706416;1786164;1855012;2137789;2149327 D6S1847;RH46710;RH99003;SHGC-80786;SHGC-81763;STS-X55740;WI-20546 5'-NT;CD73;E5NT;NT;NT5;NTE;eN;eNT 5 nucleotidase;5' nucleotidase (CD73);5'-nucleotidase;CALJA;OTTHUMP00000016808;Purine 5-Prime-Nucleotidase;ecto-5'-nucleotidase APPROVED protein-coding ENSG00000135318 HGNC:8021 00552 129190;211800 REVIEWED 1350127 NTAN1 N-terminal asparagine amidase The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on proteins to produce N-terminal L-Asp. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 16 16 16 p13.11 16188840 16208298 + 15131710 15149936 - 15037853 15056079 - 1580863;6480464 12477932;14702039;15489334;18496130;19786961;20189936;21375249;22286219;22359512;22504420 123803 H3BMX8;H3BNJ5;H3BPN7;H3BR97;H3BU50;Q96AB6 ABBA01012610;ABBA01012611;AC138932;AC139256;AC243651;AF092440;AK092915;BC017336;BF939373;CH471301;DC383993;HY036316;NM_001270766;NM_001270767;NM_173474 AAH17336;AAP97215;ADQ31702;EAW54749;NP_001257695;NP_001257696;NP_775745;Q96AB6 Hs.592045 1646631;1646633;1715075;1725045;1768912;2165560;2176789;5014023;5022578;5037552;5126187 A001Y19;D13S1553;D1S1423;D8S2279;G19780;RH119489;RH120087;RH16169;RH71423;SHGC-60684;SHGC-61155 DKFZp666E058;PNAA;PNAD N-terminal asparagine amidohydrolase;OTTHUMP00000160286;protein N-terminal Asn amidase;protein N-terminal asparagine amidase;protein NH2-terminal asparagine amidohydrolase;protein NH2-terminal asparagine deamidase;protein NTN-amidase APPROVED protein-coding ENSG00000157045 HGNC:29909 17649 615367 REVIEWED 1313107 NT5DC1 5'-nucleotidase domain containing 1 While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010] 6 6 6 q22.1 117165022 117309890 + 116421999 116566853 + 116100823 116245690 + 6480464;8554872 12107410;12477932;14574404;14702039;15489334;15498874;18978678;19913121;20628086;21139048;21890473;21906983;22736055;22939629;23000965;23064961;23455636;24250222 221294 H0Y6C1;H0YDA5;Q5QPD0;Q5TFE4;Q9H2R1 ABBA01026047;AF245044;AK090918;AK290408;AK308337;AL050331;AL121945;AL121963;AMYH02014349;AMYH02014350;AY203935;BC015138;BC056664;BC063504;BC108699;BC136832;BC136841;BG428640;BM153683;BM808222;CA390074;CH471051;KF458258;NG_021351;NM_152729;XM_006715377;XM_006715378 AAG44481;AAI08700;AAI36833;AAI36842;AAP34458;BAF83097;BAG52247;EAW48236;EAW48237;EAW48238;EAW48239;NP_689942;Q5TFE4;XP_006715440;XP_006715441 Hs.520341 1644253;1654274;1654276;1662185;1674748;1716955;1716961;1743933;1743935;1743937;1775251;1791754;1794718;1795588;2147639;2186234;5123416;7185137 A005N02;COL10A1__1174;G20343;GDB:376245;GDB:376260;GDB:376368;PMC123659P1;PMC351321P2;RH121857;RH121861;RH12857;RH46866;RH65475;SHGC-35770;STS-H71515;STS-X60382;WI-11201 C6orf200;LP2642;MGC131837;MGC24302;NT5C2L1 5'-nucleotidase domain-containing protein 1;5'-nucleotidase, cytosolic II-like 1 protein;OTTHUMP00000017054 APPROVED protein-coding HGNC:21556 14845 REVIEWED 7241990 NTAN1P1 N-terminal asparagine amidase pseudogene 1 10 10 10 111308741 111309386 - 117579380 117580025 - 115819869 115820514 - 100420389 ABBA01062965;AC091667;AMYH02023864;NG_025462 pseudo HGNC:45261 INFERRED 1322721 NT5C2 5'-nucleotidase, cytosolic II This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011] 10 10 10 q24.32 98586161 98693349 - 104847774 104953063 - 103088017 103193306 - 1580863;6480464;6907045;7240710;8699517;8554872 12477932;15489334;15840729;15923058;16189514;16344560;16385451;17350683;17405878;18775979;18976975;19060904;19428333;19430483;20542020;21045733;21139048;21378990;21396942;21572416;21890473;21906983;21909110;21909115;21926974;21963094;22071413;22688191;22863883;23223233;23377183;23377281;23453885;23894747;23974872;24001895;24262325;24337577;24482476;2839573;2848805;7999131 22978 A8K6K2;H0YHR8;P49902;Q5JUV3;Q5JUV4;Q5JUV6;S4R3A6;S4R3E7 ABBA01063117;ABBA01063118;ABBA01063119;ABBA01063120;ABBA01063121;AK127670;AK291667;AK295593;AK312517;AL139817;AL360001;AMYH02023720;AMYH02023721;BC001595;BU618027;BX648078;CH471066;D38524;DA879821;DB169780;NM_001134373;NM_012229;XM_005269632;XM_005269633;XM_005269634;XM_005269635;XM_005269636;XM_005269637;XM_005269638;XM_005269639;XM_005269640;XM_005269641;XM_005269642;XM_005269643;XM_005269644;XM_005269645;XM_005269646;XM_006717721;XM_006717722;XM_006717723;XM_006717724 AAH01595;ABM83452;ABM86664;BAA07529;BAF84356;BAG54547;BAH12118;EAW49656;EAW49657;NP_001127845;NP_036361;P49902;XP_005269689;XP_005269690;XP_005269691;XP_005269692;XP_005269693;XP_005269694;XP_005269695;XP_005269696;XP_005269697;XP_005269698;XP_005269699;XP_005269700;XP_005269701;XP_005269702;XP_005269703;XP_006717784;XP_006717785;XP_006717786;XP_006717787 Hs.97439 1677182;1678669;1680890;1688600;1699832;1748483;1758067;1782036;2172067;2180104;5015404;5015961;5016478;5020881;5022322;5037552 D11S2560;D15S1477;D8S2279;GDB:434012;L17705;L17709;RH103523;RH26787;RH77992;RH80760;RH92466;RH93558;SHGC-147263;SHGC-149908;SHGC-31548;WI-22164 GMP;NT5B;PNT5;SPG45;SPG65;cN-II 5'-nucleotidase (purine), cytosolic type B;IMP-specific 5'-NT;OTTHUMP00000020390;cytosolic 5'-nucleotidase II;cytosolic purine 5'-nucleotidase;purine 5' nucleotidase APPROVED protein-coding ENSG00000076685 HGNC:8022 02686 600417;613162 REVIEWED 1603155 NT5DC4 5'-nucleotidase domain containing 4 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH 3,4-dichloroaniline; diuron; formaldehyde 2 2 q13 106864181 106871228 + 113478657 113485588 + 6480464 12477932;14702039;21145461 284958 Q86YG4 ABBA01074249;AC079922;AK092780;BC041437;XM_001716359 AAH41437;Q86YG4;XP_001716411 Hs.589714 1761605;1765467;1855831;2155916 D2S1820;D2S2625;SHGC-145599;SHGC-148954 OTTHUMP00000203658 protein-coding HGNC:27678 MODEL 7241989 NTAN1P3 N-terminal asparagine amidase pseudogene 3 12 12 12 67482059 67482789 - 67818035 67818765 - 67424255 67424985 - 100420356 ABBA01026565;AC078983;AMYH02026690;NG_024031 1782662 SHGC-149890 pseudo HGNC:45263 INFERRED 1345269 NTF6A neurotrophin 6 alpha (pseudogene) 19 19 19 q13.3 46395769 46396913 - 49528482 49529379 - 49025225 49026122 - 727527 1313578 1496419 4910 ABBA01032950;AC008687;AC245081;M86529;NG_029362 NTF5P;NTF6;PSI-NT4 neurotrophin 6, alpha pseudogene pseudo HGNC:8025 INFERRED 1347769 NTF6B neurotrophin 6 beta (pseudogene) 19 19 19 q13.3 46408770 46409959 - 49541491 49542395 - 49038234 49039138 - 1496419 4911 ABBA01032948;AC008687;AC245081;NG_029363;S41540 AAB22780 neurotrophin 6, beta pseudogene pseudo HGNC:8026 INFERRED 1350644 NTF6G neurotrophin 6 gamma (pseudogene) 19 19 19 q13.3 46399879 46400850 + 49532948 49533842 + 49029691 49030585 + 1496419 4912 ABBA01032949;AC008687;AC245081;NG_029364;S41541 AAB22781 neurotrophin 6, gamma pseudogene pseudo HGNC:8027 INFERRED 7241941 NTAN1P2 N-terminal asparagine amidase pseudogene 2 8 8 8 83688535 83689957 - 87493790 87495257 - 86481561 86483028 - 100420307 ABBA01037362;AC103817;AMYH02018362;NG_026048 pseudo HGNC:45262 INFERRED 1354038 NT5C1B 5'-nucleotidase, cytosolic IB Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008] 2 2 2 p24.2 18625400 18652107 - 18744137 18771359 - 18562871 18589580 - 1580863;6480464;6907045;8554872 11690631;12477932;14702039;16344560;20125193;20392501;23314748;23568457 93034 B3KUK6;B4DXQ9;B4DXZ9;B4DZ86;C4AM88;C9JW75;H7BZQ4;Q96P26 AA774429;AA974253;ABBA01018502;AC079148;AF352326;AF356185;AF417165;AJ295254;AK093234;AK093464;AK097422;AK097848;AK302084;AK302200;AK302795;AMYH02003352;BC026076;BC136387;BC141842;BC171761;CH471053;DB054653;HC007182;HC044805;NM_001002006;NM_001199086;NM_001199087;NM_001199088;NM_033253 AAI36388;AAI71761;AAK39108;AAK83285;AAL11910;AAX93260;BAC04103;BAC04174;BAG53468;BAG63471;BAG63561;BAG63998;CAC44363;CBH19396;CBH30732;EAX00852;EAX00853;EAX00854;NP_001002006;NP_001186015;NP_001186016;NP_001186017;NP_150278;Q96P26 Hs.744358 1683395 RH99272 AIRP;CN-IB;CN1B;MGC26640 OTTHUMP00000200494;OTTHUMP00000200495;OTTHUMP00000200496;OTTHUMP00000200497;OTTHUMP00000220360;autoimmune infertility-related protein;cytosolic 5'-nucleotidase 1B;cytosolic 5'-nucleotidase IB APPROVED protein-coding ENSG00000185013 HGNC:17818 11405 610526 VALIDATED 6481112 NTM-IT NTM intronic transcript (non-protein coding) 11 11 q25 132154196 132158353 + 132284302 132288459 + 100874281 AA435898;ABBA01009005;AMYH02025813;AP004248;HG504342;NR_046820 AP004248.4;NTM-IT3 APPROVED ncrna HGNC:41437 VALIDATED 6481111 NTM-IT1 NTM intronic transcript 1 (non-protein coding) 100874279 AP003025;AP003039 miscrna HGNC:41435 6481110 NTM-IT2 NTM intronic transcript 2 (non-protein coding) 100874280 AP000844 miscrna HGNC:41436 1323774 NT5C3A 5'-nucleotidase, cytosolic IIIA This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012] 7 7 7 p14.3 33035567 33084229 - 33053725 33102409 - 33014113 33062797 - 1580863;6480464;6907045;7240710;8554872;8699517 10942414;11042152;11076863;11230166;11369620;11795870;12418222;12477932;12714505;12930399;15238149;15489334;15489336;15604219;16344560;16381901;16712791;17349762;18499901;18775979;19623099;20877624;21890473;21906983;21988832;23139015;23223233;23824909;24250222;7818506;8557639;8889549;9428647 51251 B9A035;C9K084;F8WDR0;Q9H0P0;X6RM59 AA482595;AACC02000103;ABBA01056859;ABBA01056860;AC074338;AC083863;AF151067;AF312735;AK290118;AK314109;AL136716;AMYH02015491;AMYH02015492;AW339593;BC013292;BC015856;BC066914;BC071652;BF790086;CB127255;CB127877;CB137440;CH471073;CR533518;DA975244;DB243020;DB346026;N98231;NG_015800;NM_001002009;NM_001002010;NM_001166118;NM_016489 AAF36153;AAG33630;AAH13292;AAH15856;AAH66914;AAH71652;ABM83769;ABW03538;BAF82807;BAG36802;CAB66650;CAG38549;CAL38016;CAL38194;CAL38358;EAL24463;EAW94007;EAW94008;EAW94009;EAW94010;EAW94011;NP_001002009;NP_001002010;NP_001159590;NP_057573;Q9H0P0 Hs.487933 1645352;1679830;1812254;1823880;1869364;1869368;1869370;1869372;1869374;2109581;2116307;2157501;2171671;2184713;2198458 D7S746;ECD07134;ECD13033;GDB:1317406;NT5C3_9690;REN5352;REN5354;REN5355;REN5356;REN5357;RH16522;RH46946;RH65871;RH99188;stSG618293 MGC27337;MGC87109;MGC87828;NT5C3;P5'N-1;P5N-1;PN-I;POMP;PSN1;UMPH;UMPH1;cN-III;hUMP1;p36 5'-nucleotidase, cytosolic III;OTTHUMP00000202847;OTTHUMP00000202849;OTTHUMP00000202850;OTTHUMP00000202851;cytosolic 5'-nucleotidase 3;cytosolic 5'-nucleotidase 3A;cytosolic 5'-nucleotidase III;lupin;pyrimidine 5'-nucleotidase 1;uridine 5' monophosphate hydrolase 1;uridine 5'-monophosphate hydrolase 1 APPROVED protein-coding ENSG00000122643 HGNC:17820 05871 266120;606224 REVIEWED 1606300 NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 The METTL11A gene encodes an N-terminal methyltransferase for the RAN (MIM 601179) guanine nucleotide exchange factor regulator of chromosome condensation 1 (RCC1; MIM 179710). METTL11A enzyme alpha-N-methylates other protein targets such as SET (MIM 600960) and RB (MIM 180200).[supplied by OMIM, Nov 2010] 9 9 9 q34.11 103039246 103048694 + 132371036 132397879 + 129608884 129636131 + 6480464 10931946;12107411;12477932;15146197;15164053;15231747;15489334;18029348;20098747;20481588;20668449;21139048;21832049;21890473;21906983;21963094;21987572;22041458;22769851;22939629;24816145 28989 Q9BV86;S4R338;S4R344;S4R3J7 ABBA01043937;ABBA01043938;ABBA01043939;AF110776;AI802417;AK290957;AK292332;AK298840;AK307056;AK313829;AL391056;AL590369;AMYH02021740;AMYH02021741;AX405694;BC001396;BC033234;BE392289;BF316784;BG468453;BI083998;BM009113;BM554138;BQ636193;BQ923165;CH471090;CN406947;HY058177;NM_001286796;NM_001286797;NM_001286798;NM_001286799;NM_001286800;NM_001286801;NM_001286802;NM_001286803;NM_014064;NR_104596;XM_005251939 AAF14859;AAH01396;AAH33234;BAF83646;BAF85021;BAG60968;CAD34801;EAW87893;EAW87894;EAW87895;NP_001273725;NP_001273726;NP_001273727;NP_001273728;NP_001273729;NP_001273730;NP_001273731;NP_001273732;NP_054783;Q9BV86;XP_005251996 Hs.744027 1689053;1852246 RH93952;SGC32655 AD-003;C9orf32;HOMT1A;METTL11A;NRMT;NTM1A N-terminal RCC1 methyltransferase;OTTHUMP00000022337;OTTHUMP00000022338;OTTHUMP00000022339;OTTHUMP00000022340;X-Pro-Lys N-terminal protein methyltransferase 1A;alpha N-terminal protein methyltransferase 1A;methyltransferase like 11A;methyltransferase-like protein 11A APPROVED protein-coding ENSG00000148335 HGNC:23373 10628 613560 VALIDATED 735501 NTN1 netrin 1 Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008] 17 17 17 p13-p12 8956718 9179095 + 8924859 9147317 + 9021542 9244000 + 1580863;6480464;8554872 10102268;10996153;11048721;11356879;12149262;12636918;12810718;14602071;15343335;15491747;15573119;15574733;15811950;16158190;16181408;16203981;18253061;18353983;18400890;18439993;18455953;18469807;18653556;18692059;18796601;18854154;18922894;19122655;19196994;19211441;19349462;19822088;19826074;19940358;20007677;20029409;20036673;20075388;20080097;20305387;20434207;20609112;20620466;20736409;21193949;21303223;21505994;21733374;21740336;21789787;21980448;22231519;22252496;22332546;22588384;22685302;22779713;22863734;22871610;22889408;23195957;23319801;23512105;23526078;23538444;23549787;23666553;24092381;24122613;24174661;24262644;24293316;24442237;24584118;24778312;24812271;8861902;8978605;9858595;9950216 9423 H7BZF4;O95631 ABBA01054936;ABBA01054937;ABBA01054938;ABBA01054939;ABBA01054940;ABBA01054941;AC005695;AC090610;AMYH02032938;AMYH02032939;AMYH02032940;BC092429;CH471108;GU727649;NM_004822;U75586;XM_006721595 AAD09221;ADU87650;EAW90032;NP_004813;O95631;XP_006721658 Hs.660885 1342096;1676788;1679415;1716691;1768599;2139587;2171073 D17S952;D17S973;G17991;L18181;RH121604;RH93073;SHGC-2263 NTN1L OTTHUMP00000160751;epididymis tissue protein Li 131P;netrin 1, mouse, homolog of;netrin-1 APPROVED protein-coding ENSG00000065320 HGNC:8029 03368 601614 REVIEWED 732796 NTN3 netrin 3 ENCODES a protein that exhibits receptor binding (inferred); INVOLVED IN muscle cell differentiation (inferred); positive regulation of muscle cell differentiation (inferred); FOUND IN Golgi apparatus (inferred); proteinaceous extracellular matrix (inferred); INTERACTS WITH 1-nitropyrene; copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 2735875 2738521 + 2521500 2524146 + 2471499 2474145 + 1580863;6480464 10366627;10477713;10634642;12471613;15923648;21980448;8828041;9143507;9887257 4917 O00634 ABBA01030254;ABBA01030255;AC106820;AMYH02031252;CH471112;CS572995;NG_028170;NM_006181;U86758;U86759 AAC51246;AAC51247;CAN86491;EAW85504;NP_006172;O00634 Hs.158336 NTN2L Netrin-2, chicken, homolog of, like;OTTHUMP00000159091;netrin-2-like protein;netrin-3 protein-coding ENSG00000162068 HGNC:8030 03827 602349 VALIDATED 1319554 NTHL1 nth endonuclease III-like 1 (E. coli) The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008] 16 16 16 p13.3 2301923 2309974 - 2089816 2097931 - 2039815 2047866 - 1580863;6480464;6907045 10583946;10882850;11328882;11937636;12140329;12144783;12167705;12477932;12519758;12531031;14522981;14734554;15260972;15358233;15489334;15533839;15616553;16111924;16446124;17150535;17353931;17923696;18307537;18515411;19414504;20226869;20522537;20574454;20834067;20843780;20877624;21048031;21139048;21906983;22465744;22678362;22939629;23891004;24163370;24332808;8611553;8990169;9045706;9705289;9743625;9831664;9927729 4913 E5KTI5;H3BPD5;H3BRL9;H3BUV2;P78549 AB001575;AB014460;ABBA01030279;ABBA01030280;AC005600;AC093513;AF498098;AMYH02031241;AMYH02031242;BC000391;BC003014;CH471112;HQ206266;HQ206267;HQ206268;HQ206269;HQ206270;HQ206271;HQ206272;HQ206273;HQ206274;HQ206275;HQ206276;HQ206277;HQ206278;HQ206279;HQ206280;HQ206281;HQ206282;HQ206283;HQ206284;HQ206285;HQ206286;HQ206287;HQ206288;HQ206289;HQ206290;HQ206291;HQ206292;HQ206293;HQ206294;HQ206295;HQ206296;HQ206297;HQ206298;HQ206299;HQ206300;HQ206301;HQ206302;HQ206303;HQ206304;HQ206305;NG_008412;NM_002528;U79718;U81285;Y09687 AAB41534;AAC34209;AAC51136;AAH00391;AAH03014;AAM11786;ADP92214;ADP92215;ADP92216;ADP92217;ADP92218;ADP92219;ADP92220;ADP92221;ADP92222;ADP92223;ADP92224;ADP92225;ADP92226;ADP92227;ADP92228;ADP92229;ADP92230;ADP92231;ADP92232;ADP92233;ADP92234;ADP92235;ADP92236;ADP92237;ADP92238;ADP92239;ADP92240;ADP92241;ADP92242;ADP92243;ADP92244;ADP92245;ADP92246;ADP92247;ADP92248;ADP92249;ADP92250;ADP92251;ADP92252;ADP92253;BAA19413;BAA32695;CAA70865;EAW85562;NP_002519;P78549 Hs.66196 1788058;1789871;1789873;1789875;1789877;1789879;1850475 G67256;RH71264;csnpnthl1-pcr1-1;csnpnthl1-pcr2-1;csnpnthl1-pcr3-1;csnpnthl1-pcr5-1;csnpnthl1-pcr6-1 NTH1;OCTS3;hNTH1 DNA glycoslyase/AP lyase;OTTHUMP00000158939;bifunctional DNA N-glycoslyase/DNA-(apurinic or apyrimidinic site) lyase;endonuclease III-like protein 1 APPROVED protein-coding ENSG00000065057 HGNC:8028 04039 602656 REVIEWED 1606977 NTN5 netrin 5 FOUND IN extracellular region (inferred); INTERACTS WITH silicon dioxide; 1,3-dinitrobenzene (ortholog); 6-propyl-2-thiouracil (ortholog) 19 19 19 q13.33 46029521 46042362 - 49164664 49176264 - 48661407 48673007 - 6480464 12477932;21926972 126147 M0QXZ9;Q8WTR8 ABBA01032974;ABBA01032975;ABBA01032976;AC008888;AMYH02036309;BC018654;BC018697;BC021210;BC033207;CH471177;NM_145807;XM_006723011 AAH18654;AAH18697;AAH21210;AAH33207;EAW52386;EAW52387;EAW52388;NP_665806;Q8WTR8;XP_006723074 Hs.326217 5022576 D1S1361 netrin-1-like protein;netrin-5 protein-coding ENSG00000142233 HGNC:25208 14031 PROVISIONAL 1348678 NTN4 netrin 4 NTN4 belongs to a family of proteins related to laminins (see LAMA1, MIM 150320) Koch et al. (2000) [PubMed 11038171].[supplied by OMIM, Mar 2008] 12 12 12 q22 95723494 95856412 - 96051583 96184565 - 95657807 95790758 - 6480464;8554872 11038171;12477932;14702039;15489334;15519678;16189514;17174565;17545519;18719102;19094984;19859801;20029409;20407033;20730893;21406174;21799154;22496621;22705235;23443559;23535729;23535733;23921680;24120501;24265816 59277 F8W0I7;Q9HB63 ABBA01053323;ABBA01053324;ABBA01053325;ABBA01053326;ABBA01053327;ABBA01053328;AC008128;AC090001;AF119916;AF278532;AF297711;AK024691;AK026833;AK226070;AK290591;AK315796;AL137540;AL833767;AMYH02026986;AMYH02026987;AMYH02026988;AMYH02026989;AY330211;BC013591;BC136798;BC136799;BI549738;CH471054;KF510398;NM_021229 AAF69670;AAG30822;AAG53651;AAH13591;AAI36799;AAI36800;AAP92113;BAB14964;BAF83280;BAG38140;CAB70800;CAH56243;EAW97544;EAW97545;NP_067052;Q9HB63 Hs.201034 1700238;2219206;5024165 NTN4__6080;RH103736;RH77787 FLJ23180;PRO3091 OTTHUMP00000243442;OTTHUMP00000243443;OTTHUMP00000243444;OTTHUMP00000243445;beta-netrin;hepar-derived netrin-like protein;netrin-4 APPROVED protein-coding ENSG00000074527 HGNC:13658 10121 610401 VALIDATED 1350531 NTNG1 netrin G1 Netrin G1 (NTNG1) belongs to a conserved family of proteins that act as axon guidance cues during vertebrate nervous system development (Nakashiba et al., 2000 [PubMed 10964959]).[supplied by OMIM, Mar 2008] 1 1 1 p13.3 105857329 106199221 + 107682540 108024477 + 107140007 107481855 + 6480464;8554872 10231032;10964959;12477932;12975309;14595443;15340161;15489334;15494819;15508520;15705354;15870826;15901489;16502428;16710414;17207965;17507910;17903671;18234954;18384956;18628988;19240061;19913121;20029409;20379614;20628086;21079607;22227940;23769687;23986473;24722188 22854 B4DKF0;Q5IEC3;Q5IEC6;Q5IEC8;Q9Y2I2;X5DNW2 AB023193;ABBA01028428;ABBA01028429;ABBA01028430;AC114491;AK296533;AK297659;AL513187;AL590427;AMYH02001656;AMYH02001657;AX050252;AY358365;AY764260;AY764261;AY764262;AY764263;AY764264;AY764265;AY764266;AY764267;AY781194;BC030220;BX538348;CH471156;CS572991;KJ534901;NM_001113226;NM_001113228;NM_014917;XM_006710454;XM_006710455;XM_006710456;XM_006710457 AAH30220;AAQ88731;AAW47407;AAW47408;AAW47409;AAW47410;AAW47411;AAW47412;AAW47413;AAW47414;AAW47415;ACE86788;ACE87474;ADQ31744;AHW56541;BAA76820;BAG59162;BAG60025;CAC21786;CAD98143;CAN86489;EAW51249;EAW51250;NP_001106697;NP_001106699;NP_055732;Q9Y2I2;XP_006710517;XP_006710518;XP_006710519;XP_006710520 Hs.732535 1654214;1674962;1687794;1692080;1754543;2121725;2136907;2163215;2219208 AL033680;HSC15A052;NTNG1__6081;RH68911;RH92811;SHGC-132826;SHGC-52775;SHGC-75244;SHGC-75249 KIAA0976;Lmnt1 OTTHUMP00000012634;OTTHUMP00000012704;OTTHUMP00000012705;OTTHUMP00000012706;OTTHUMP00000012707;OTTHUMP00000012708;OTTHUMP00000012709;YLSR571;axon guidance molecule;laminet 1;laminet-1;netrin G1f;netrin-G1 APPROVED protein-coding ENSG00000162631 HGNC:23319 16389 608818 VALIDATED 732368 NTF3 neurotrophin 3 The protein encoded by this gene is a member of the neurotrophin family, that controls survival and differentiation of mammalian neurons. This protein is closely related to both nerve growth factor and brain-derived neurotrophic factor. It may be involved in the maintenance of the adult nervous system, and may affect development of neurons in the embryo when it is expressed in human placenta. NTF3-deficient mice generated by gene targeting display severe movement defects of the limbs. The mature peptide of this protein is identical in all mammals examined including human, pig, rat and mouse. [provided by RefSeq, Jul 2008] 12 12 12 p13 7162184 7225194 + 5541280 5604465 + 5432114 5495299 + 631710;1358755;1358754;1580863;4891068;4891112;4891123;4891120;4891110;5144061;6480464;6907045 11580868;11737043;15843147;16022868;16315781;17497413;1889806;21059230;9502217 11877300;11920853;12107412;12397373;12477932;12598727;12710933;12900521;15146197;15365216;1542658;15474906;15489334;15544837;15589528;15770067;16441896;1645620;16786155;17112518;17192954;17207965;17234344;17698064;18069415;18179783;18203754;18305571;18313696;18336001;18428117;18438927;18438945;18596692;1889807;19086053;19357934;19369542;19453261;19598235;19680743;20060128;20160348;20219210;2025430;20360537;20379614;20576502;20597688;21085492;21261755;21392742;21698095;21720807;21787840;21996274;22036954;22158057;22192858;2236018;22454143;22459634;23001042;23027130;23038618;23075484;23149719;23185507;23426664;2344409;23522042;2365067;23869086;7514502;7703225;7733919;7991545;8621424;8819011;8841198;8925252;9488719;9756741;9973222 4908 P20783 ABBA01017624;AC007848;AC137627;AK293895;AMYH02025936;AW190653;BC069773;BC107075;BU939830;CD672441;CH471116;CN267386;CR541906;HD113715;M37763;M61180;NM_001102654;NM_002527;X53655 AAA59953;AAA63231;AAH69773;AAI07076;ADQ32931;BAH11621;CAA37703;CAG46704;CBW46116;EAW88824;EAW88825;NP_001096124;NP_002518;P20783 Hs.99171 1337549;1693910;1742789;1742907;1755695;1758969;1766497;1788948;1853149;2167251;5491900;5493029;7185504 D12S99;G19257;G42645;GDB:210011;GDB:214846;Ntf3;RH48860;SHGC-142535;SHGC-149817;SHGC-943;UniSTS:225313;UniSTS:483844 HDNF;MGC129711;NGF-2;NGF2;NT-3;NT3 OTTHUMP00000239132;OTTHUMP00000239133;nerve growth factor 2;neurotrophic factor;neurotrophin-3 APPROVED protein-coding ENSG00000185652 HGNC:8023 01219 162660 REVIEWED 733149 NTF4 neurotrophin 4 This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. The expression of this gene is ubiquitous and less influenced by environmental signals. While knock-outs of other neurotrophins including nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3 prove lethal during early postnatal development, NTF5-deficient mice only show minor cellular deficits and develop normally to adulthood. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46431605 46435443 - 49564323 49568333 - 49061066 49065076 - 737722;1580863;4891068;6480464;6907045;7240710;8554872;8699517 10869436;17497413 10388563;10479455;10490030;10631974;10681461;10908605;11263982;11738045;11855816;12397373;12477932;12900521;1313578;1496419;15258592;15489334;15987945;16316409;16648150;16648236;1742028;18179783;18203754;18305571;18980528;19081579;19086053;19598235;19765683;20175187;20215012;20219210;20447632;20463313;20806036;21330466;21350004;21988832;22036954;22192858;22815630;23869086;7541633;7703225;8061955;8241191;8873083;925010;9519408;9973328 4909 AAB20549;M0QZQ0;M0R0X2;P34130 ABBA01032946;AC008687;AC245081;AK297906;BC012421;BT019368;BT019369;CH471177;CR541900;M86528;NG_016289;NM_006179;XM_005258962;XM_006723232 AAA60154;AAB20549;AAH12421;AAV38175;AAV38176;ABM82234;ABM85418;BAG60225;CAG46698;EAW52441;EAW52442;EAW52443;NP_006170;P34130;XP_005259019;XP_006723295 Hs.266902;Hs.743915 1688837;1770848;2158247 D19S1129;RH46960;RH80807 GLC10;GLC1O;NT-4;NT-4/5;NT-5;NT4;NT5;NTF5 neurotrophic factor 4;neurotrophic factor 5;neurotrophin 5;neurotrophin 5 (neurotrophin 4/5);neurotrophin-4;neurotrophin-5;neutrophic factor 4 APPROVED protein-coding HGNC:8024 01220 162662;613100 REVIEWED 1603310 NTM neurotrimin This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] 11 11 11 q25 128409354 129378081 + 131240371 132206716 + 131370476 132336822 + 6480464;8554872 12107410;12477932;12819783;12975309;15340161;15379248;15489334;17207965;17500595;19913121;20379614;20628086;20889312;21036197;21182207;21832049;21982860;22661486;23054244;23144326;23247143;23251661;23548203;7891157;8889548 50863 B7Z1I4;B7Z1Z5;C9J0V2;C9JK95;F8VTR5;H7BZ62;Q9P121 AA854425;ABBA01023051;ABBA01023052;ABBA01023053;AC247156;AF126426;AI360870;AI573168;AK293448;AK293487;AK294137;AK315964;AMYH02025799;AMYH02025800;AMYH02025801;AMYH02025802;AMYH02025803;AMYH02025804;AMYH02025805;AMYH02025806;AMYH02025807;AMYH02025808;AMYH02025809;AMYH02025810;AMYH02025811;AMYH02025812;AMYH02025813;AMYH02025814;AP000844;AP002355;AP003025;AP003039;AP003166;AP004248;AP004372;AP004722;AP005155;AY358331;BC050716;BE222817;BE263639;BE504685;BF064266;BI913885;BM548429;BM726313;CA392146;CH471065;CS287743;EF043567;KC877499;KC877506;KF455572;KF455582;KF511143;NM_001048209;NM_001144058;NM_001144059;NM_016522;XM_005271580;XM_005271581;XM_005271582;XM_006718854;XM_006718855;XM_006718856;XM_006718857 AAF37591;AAH50716;AAQ88697;ABK34282;ADQ33119;BAH11509;BAH11520;BAH11681;BAH14335;CAK18708;EAW67800;EAW67801;EAW67802;NP_001041674;NP_001137530;NP_001137531;NP_057606;Q9P121;XP_005271637;XP_005271638;XP_005271639;XP_006718917;XP_006718918;XP_006718919;XP_006718920 Hs.504352 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HNT;IGLON2;MGC60329;NTRI IgLON family member 2;OTTHUMP00000069165;OTTHUMP00000069166;OTTHUMP00000196338;OTTHUMP00000196339 APPROVED protein-coding ENSG00000182667 HGNC:17941 06398 607938 REVIEWED 1604264 NTPCR nucleoside-triphosphatase, cancer-related ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN dephosphorylation (inferred); PARTICIPATES IN purine metabolic pathway; thiamine metabolic pathway; FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene 1 1 1 q42.2 206356751 206384600 + 233086277 233114548 + 232950531 232978802 + 6480464;6907045 12477932;15489334;17291528;17643375;19519914;19738201;19946888;21139048;21145461;21890473;21988832;22505724;22623428;23000965;23349634;23602568;24163370;24244333;24332808;24816145 84284 Q5TDE9;Q5TDF0;Q9BSD7 ABBA01033072;ABBA01033073;AF416713;AK311229;AK316591;AL122003;AMYH02002911;BC005102;CH471098;NM_032324;XM_005273311 AAH05102;AAL16807;BAG38178;EAW69976;EAW69977;EAW69978;EAW69979;EAW69980;NP_115700;Q9BSD7;XP_005273368 Hs.642715 1711048;2141600;2169327;2174014 RH46238;SHGC-64307;SHGC-76553;SHGC-86151 C1orf57;FLJ11383;HCR-NTPase;MGC13186;RP4-659I19.2;RP4-678E16.2 NTPase;OTTHUMP00000035941;OTTHUMP00000035942;cancer-related nucleoside-triphosphatase;human cancer-related NTPase;nucleoside triphosphate phosphohydrolase;nucleoside-triphosphatase C1orf57 APPROVED protein-coding HGNC:28204 17486 PROVISIONAL 1316073 NTNG2 netrin G2 INVOLVED IN axonogenesis (ortholog); FOUND IN anchored component of plasma membrane (ortholog); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; atrazine 9 9 9 q34 105579329 105660166 + 135037334 135118224 + 132161947 132242837 + 1580863;6480464 11347906;11804778;12168954;12477932;12975309;15489334;15705354;16189514;17507910;18204098;20029409;20382146;20467438;22041449;22957104;8619474;9110174 84628 O95898;Q96CW9 AB058760;ABBA01032491;ABBA01032492;ABBA01032493;ABBA01032494;AF131842;AL159997;AL353631;AMYH02021802;AMYH02021803;AMYH02021804;AMYH02021805;AY358165;BC013770;CH471090;NM_032536;XM_006717304 AAD20057;AAH13770;AAQ88532;BAB47486;EAW87994;EAW87995;EAW87996;NP_115925;Q96CW9;XP_006717367 Hs.163642 1334728;1338143;1740533;1786972;1846926;1846928;7185505 A005L09;D12S341;D9S125;D9S179;G20303;SHGC-145642 KIAA0625;KIAA1857;LHLL9381;Lmnt2;MGC21884;NTNG1;bA479K20.1 OTTHUMP00000022430;OTTHUMP00000022431;bA479K20.1 (novel protein);laminet 2;laminet-2;netrin G1;netrin-G2 protein-coding HGNC:14288 17650 VALIDATED 1319092 NTS neurotensin This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq, Jul 2008] 12 12 12 q21 85930823 85939559 + 86268073 86276770 + 85874295 85882992 + 1580863;6480464;8554872 11278902;11559354;11801734;11811984;11815627;11906607;11912133;11922768;12150975;12473660;12477932;12531461;12609826;1436492;14699144;14743366;15123666;15358593;15489334;15623535;16087676;16519961;16754659;16984735;17068197;17207965;17289170;17570131;17644423;17870207;18048355;18577758;18624930;19086053;19393580;19878995;19932148;20138826;20468064;20731814;20810387;20858966;21030593;21212273;21233215;21272935;21508335;21542591;21623207;21806946;21994122;22416137;22700584;22825476;22849656;23064014;23109725;23140271;23418512;23436714;23962427;24000330;24198343;3525564;3670596;409699;6754769;7791794;7836437;8075503;8719037;8770919;8869556;8954810;9530155;9756851 4922 G3V1X6;P30990;Q6FH20 ABBA01053441;AC016993;AF157682;AF157683;AK312066;AMYH02026875;AW571577;BC010918;CH471054;CR541936;NM_006183;S47339;U91618 AAB23934;AAB50564;AAH10918;AAP37614;AAP37615;ADQ32622;BAG35002;CAG46734;EAW97400;EAW97401;NP_006174;P30990 Hs.80962 1744049;2110607 GDB:384937;NTS_8515 NMN-125;NN;NT;NT/N;NTS1 OTTHUMP00000242231;OTTHUMP00000242232;neurotensin/neuromedin N;pro-neurotensin/neuromedin APPROVED protein-coding ENSG00000133636 HGNC:8038 08878 162650 REVIEWED 734274 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008] 1 1 1 q21-q22 129856788 129922861 + 156785542 156851642 + 156815750 156881850 + 1580863;5144144;5144120;5508228;5508229;5508379;5684544;5684769;5684352;5684546;6480464;5684771;5684379;5684405;5684531;5684768;5144116;5684340;5684532;5684543;5684767;5684534;5684530;5684772;5684770;4891110;5684542;5684545;5684766;5684358;5684777;5684337;2308892;5508695;6907045;7240710;8554872;8699517 12469361;15589512;16315781;16704535;16708804;17223862;17667845;18077166;18097183;18322713;18585435;18647313;18780967;18817846;19250380;19633950;19651702;20200421;20351485;20638179;20647579;20934630;20943663;21136036;21317683;21385399;21397006;21429417;21719352;22044876;8433391;8943115 10090906;10092678;10103137;10233776;10329710;10330344;10388563;10391209;10443680;10490030;10567924;10629055;10679771;10708759;10712923;10747026;10748052;10861667;10982191;11071380;11147812;11150334;11157096;11159935;11244088;11251075;11310631;11466412;11520933;11668614;11705863;11729324;11733534;11738045;11850535;11859925;12006576;12102460;12150951;12208732;12210794;12237455;12406349;12446789;12471037;12477932;12536040;1463607;14642435;14691455;14985763;14988025;15024033;15159601;15167895;15273715;1532241;15362372;15488758;15489334;15513915;15523689;15637590;15753086;15870692;15950763;15961390;16091303;16113645;16138253;16181609;16246731;16275928;16284401;16373086;16483615;16546643;1656363;16586073;16701206;16710414;16786155;16805430;16860569;16862449;16919030;16935282;16939974;1695324;16996570;1706478;17143529;1715690;17196528;17267689;17447019;17531524;17548467;17617666;17619016;17635673;17671718;17673289;17850422;17971243;18005706;18072090;18174161;18203754;18221326;18270328;18305571;18319596;18419753;18427551;18457658;1849459;1850821;18678285;18719857;18727839;19086053;19115484;19120874;19167335;19169037;19177265;19330021;19386345;19399531;19417027;19435634;19453261;19564412;19598235;19635108;19730683;19734938;19749791;19758420;19816090;19883730;19913121;19945432;19953087;19957796;20003389;20186105;20209132;20219210;20301434;20301726;20424473;20542022;20600627;20628086;20663926;20680486;20854189;20977883;21123453;21137076;21139137;21150695;21154590;21184737;21236475;21295543;21321391;21332718;21419569;21503896;21570973;21645891;21728718;21849536;21990266;22128158;22138126;22272270;22343487;22410777;22445970;22454143;22539856;22561027;22623531;22653642;22782892;22902478;22932111;22939624;22954667;22992069;23266087;23400852;23471969;23489213;23569426;23589303;23598414;23746174;23788249;23841091;23869086;23912036;24162815;24369899;24585880;24722188;2869410;2927393;2966065;7509449;7510697;7541035;7542991;7565764;7601468;7657647;7806500;7823156;8155326;8183561;8226808;8325889;8384556;8524391;8577769;8610109;8621424;8696348;8889548;8943228;8957089;9069267;9099755;9182757;9282923;9290260;9341772;9507002;9856458;9867838;9927421 4914 E9PQG0;J3KP20;P04629;X5DR71 AB019488;ABBA01016642;ABBA01016643;AK126428;AK290759;AK312704;AL158169;AMYH02001982;AMYH02001983;AY321513;BC062580;BC136554;BC144239;BM685020;CH471121;CR936794;KJ534902;KJ534903;M23102;NG_007493;NM_001007792;NM_001012331;NM_002529;Y09028;Y09029;Y09030;Y09031;Y09032;Y09033;Y09034;Y09035;Y09036 AAA36770;AAH62580;AAI36555;AAI44240;AAP88292;AHW56542;AHW56543;BAA34355;BAF83448;BAG35582;EAW52900;EAW52901;EAW52902;NP_001007793;NP_001012331;NP_002520;P04629 Hs.406293 1342035;1679097;1745091;1794964;7185705 D1S506;GDB:593920;PMC86471P1;RH70890 DKFZp781I14186;MTC;TRK;TRK1;TRKA;Trk-A;p140-TrkA OTTHUMP00000038736;OTTHUMP00000234666;OTTHUMP00000234667;OTTHUMP00000234668;OTTHUMP00000234669;Oncogene TRK;TRK1-transforming tyrosine kinase protein;gp140trk;high affinity nerve growth factor receptor;trk precursor;tropomyosin-related kinase A;tyrosine kinase receptor A 2292936;2293000 PRSTS117_H;PRSTS118_H APPROVED protein-coding ENSG00000198400 HGNC:8031 01869 155240;191315;256800 REVIEWED 731305 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 9 9 9 q22.1 57854390 58209019 + 87283417 87641985 + 84668502 85027070 + 1580863;1626135;1626133;5508228;5684550;5684547;5684542;5684909;5684911;5684778;5684922;5684549;5684782;5684913;5684548;5684901;5684898;5684908;5684921;5684914;4891134;5684783;5684920;5684923;6480464;5684891;5684341;5147998;5684907;5684779;6907045;8699517;8657122;7240710;8655608;8554872 10711692;11226670;11360665;15494731;16141791;16702999;18780967;19844206;20124106;20357199;20445044;20553714;20557422;20597685;20638179;20662941;20863519;20956301;21193742;21223646;21330466;21411668;21456016;21603940;21612826;21900882;21958434;22027236;22097208 10092678;10386953;10388563;10490030;10533983;10631974;11157096;11162451;11251075;11263982;11432792;11738045;11798182;11849294;11855816;12006576;12074588;12237455;12367511;12419535;12471037;12477932;12719654;12808116;12912764;12921913;14617818;14702039;15024057;15167895;15304335;15329723;15389758;15489334;15513915;15637590;15647480;15657181;15838534;16034442;16051641;16113645;16335952;1645620;16647839;16648150;16701206;16713371;16713586;16786155;16805430;16862449;16939974;16964397;17008023;1710174;17200667;17570738;17611278;17616679;17674765;17720314;17873329;17884018;17889702;17918233;17971243;18075316;18201274;18203754;18253057;18286198;18293376;18319596;18428117;18457658;18511296;18534558;18595003;18637190;18678285;18727839;18959266;18992902;19018715;19086053;19087522;19124685;19156168;19170129;19268276;19307055;19363525;19365399;19386345;19403818;19417027;19453261;19488044;19548263;19598235;19635108;19641488;19741136;19765683;19801649;19816090;19874574;19879330;19885622;19913121;19927149;19953087;20014955;20083228;20101235;20132184;20156366;20186105;20193039;20202475;20219210;20379614;20403074;20428771;20463055;20468064;20610389;20615547;20628086;20673758;20694504;20703101;20811716;20877300;20878119;21047554;21079983;21126736;21187387;21192928;21215389;21239439;21242122;21295543;21379385;21414899;21419569;21426646;21552290;21670725;21711518;21728718;21739244;21750702;21795612;21802740;21849537;21849550;21966426;21988832;21999199;22020324;22028443;22209410;22258407;22322843;22341689;22343487;22361863;22393127;22425982;22426239;22490895;22609366;22710966;22719055;22842573;22886570;22902478;22906736;22939624;23058367;23064382;23086941;23124249;23137999;23185507;23185968;23192594;23277131;23315174;23332094;23380313;23416450;23420490;23422506;23598407;23598414;23656788;23831349;23861540;23869086;23936232;24047966;24069289;24086766;24321270;24795586;24801982;24802307;24802768;24853179;24982195;24991961;7574684;7679912;7759111;7789988;7823156;7936202;8621424;8895847;9195161;9312147;9507002;9573364;9648856;9856458;9927421 4915 Q16620;Q548C2;Q5VWE5 AB209118;ABBA01034027;ABBA01034028;ABBA01034029;ABBA01034030;ABBA01034031;ABBA01034032;AF086101;AF400441;AF410898;AF410899;AF410900;AF410901;AF410902;AF508964;AJ420458;AK092267;AK123824;AK289904;AK294285;AL390777;AL445532;AL533181;AL596132;AL713745;AL833196;AMYH02021137;AMYH02021138;AMYH02021139;AMYH02021140;AW235842;BC031309;BC031835;BC075804;BE148667;BE466753;BX649001;CH471089;DA283111;DA449367;HY311899;KC855566;KF458928;NG_012201;NM_001007097;NM_001018064;NM_001018065;NM_001018066;NM_001291937;NM_006180;S76473;S76474;U12140;X75958;XM_005252001;XM_005252003;XM_005252004;XM_005252006;XM_005252007;XM_006717120 AAB33109;AAB33110;AAC51371;AAH31835;AAK92490;AAL67964;AAL67965;AAL67966;AAL67967;AAL67968;AAM77876;AGR50957;BAD92355;BAF82593;BAG57570;CAA53571;EAW62687;EAW62688;EAW62689;EAW62690;EAW62691;EAW62692;EAW62693;NP_001007098;NP_001018074;NP_001018075;NP_001018076;NP_001278866;NP_006171;Q16620;XP_005252058;XP_005252060;XP_005252061;XP_005252063;XP_005252064;XP_006717183 Hs.494312;Hs.712776 1643638;1655960;1657301;1679898;1684926;1694722;1698198;1705244;1718183;1719821;1722109;1722203;1724701;1730153;1735930;1751041;1756035;1763051;1763131;1771436;1771438;1853776;2114368;2120422;2127769;2134935;2162398;2165457;2168271;2169729;2170832;2175633;2175635 A004Y44;A005L08;A005N29;A006U15;A008W23;AFMB335WB1;D9S1033E;D9S1063E;D9S1131;D9S1764;D9S185E;G15862;G20302;G20354;G43552;G60005;G60096;RH102635;RH122554;RH122860;RH123603;RH1565;RH46089;RH93005;SHGC-104995;SHGC-12933;SHGC-142847;SHGC-146793;SHGC-146862;SHGC-32034;SHGC-78112;WI-14821;WIAF-2133 GP145-TrkB;TRKB;trk-B BDNF-tropomyosine receptor kinase B;BDNF/NT-3 growth factors receptor;OTTHUMP00000021573;OTTHUMP00000021574;OTTHUMP00000021575;OTTHUMP00000021576;OTTHUMP00000021577;neurotrophic tyrosine receptor kinase type 2;trkB tyrosine kinase;tropomyosin-related kinase B;tyrosine kinase receptor B APPROVED protein-coding ENSG00000148053 HGNC:8032 02712 600456;613886 REVIEWED 1605098 NUAK1 NUAK family, SNF1-like kinase, 1 ENCODES a protein that exhibits p53 binding; protein serine/threonine kinase activity; INVOLVED IN regulation of cell adhesion; regulation of cellular senescence; regulation of myosin-light-chain-phosphatase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; microtubule cytoskeleton; nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 12 12 12 q23.3 106122505 106199131 - 106457125 106533811 - 106063347 106140033 - 6480464;8554872 12409306;12477932;13679856;14702039;14976552;15060171;15273717;15354411;16044163;16306228;16488889;17353931;18254724;19322201;19927127;20354225;20602751;20978832;21317932;21750233;21832049;22105900;22460906;23063350;23080069;23215946;23419831;23516026;23934065;23940030;24785407;9628581 9891 F8VSH4;F8VXF0;F8VZ96;O60285 AB011109;ABBA01053171;ABBA01053172;AC010182;AC011595;AK027302;AK289992;AMYH02027126;BC152462;BG831390;BQ694341;CH471054;CK001516;NM_014840;R61142 AAI52463;AAI60165;BAA25463;BAB55026;BAF82681;EAW97768;EAW97769;NP_055655;O60285 Hs.524692 1644560;1674579;1712478;1746281;1746315;2169648 G54188;G64547;G64587;RH44761;SGC30889;SGC32090 ARK5;KIAA0537 AMP-activated protein kinase family member 5;AMPK-related protein kinase 5;NUAK family SNF1-like kinase 1;OTTHUMP00000242029;OTTHUMP00000242032;omphalocele kinase 1 protein-coding ENSG00000074590 HGNC:14311 12171 608130 VALIDATED 1312953 NUBP2 nucleotide binding protein 2 This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013] 16 16 16 p13.3 2045211 2051474 + 1832931 1839192 + 1782923 1789191 + 1580863;6480464 10486206;12477932;12970194;14702039;15489334;18573874;18676680;19170196;19263241;19625176;19692168;21139048;21216879;22863883;22939629;23824909;8889548;8895530 10101 B7Z6P0;H3BMW1;H3BNF0;H3BNS4;H3BQE5;H3BQR2;H3BRE1;H3BRK5;Q9Y5Y2 ABBA01030296;AC012180;AF118394;AK001023;AK093593;AK124460;AK300696;AK315611;AL031724;AMYH02031235;BC002768;BC008005;BF439443;BI196883;BU189242;BU680530;BX446436;BX648907;CH471112;NM_001284501;NM_001284502;NM_012225;NR_104318;XM_005255025;XM_005255027;XM_005255028;XM_005255030;Z36821 AAD45242;AAH02768;AAH08005;BAA91471;BAG37980;BAH13326;CAC36077;EAW85613;EAW85614;EAW85615;EAW85616;EAW85617;NP_001271430;NP_001271431;NP_036357;Q9Y5Y2;XP_005255082;XP_005255084;XP_005255085;XP_005255087 Hs.256549 1662192;1687295;1697474;2120193 RH102238;RH41941;RH98966;SHGC-57507 CFD1;NBP 2;NUBP1 C447E6.1 (nucleotide binding protein 1 (E.coli MinD like) );OTTHUMP00000158805;cytosolic Fe-S cluster assembly factor NUBP2;homolog of yeast cytosolic Fe-S cluster deficient 1;nucleotide binding protein 2 (E.coli MinD like);nucleotide binding protein 2 (MinD homolog, E. coli);nucleotide-binding protein 2 APPROVED protein-coding ENSG00000095906 HGNC:8042 14846 610779 REVIEWED 1354062 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 15 15 15 q25 64821267 65200916 - 88419948 88800026 - 87876717 88256731 - 1580863;2325656;2325654;2308892;2325663;2325660;6480464;6907045;8554872 10209957;11295066;16941478;18585435;9541170 10027399;10092678;10764727;11157096;11205744;11877382;12006576;12034707;12210087;12237455;12399943;12450792;12471037;12477932;12927579;1326636;14668342;15167446;15167895;15198123;15247919;15312164;15513915;15932601;16344560;1653651;16537434;16647839;16648236;16786155;16826429;16862449;17971243;18068631;18179783;18203754;18293376;18319596;18336001;18347002;18367154;18428117;18616610;18639687;18713973;19011601;19040714;19086053;19156760;19179422;19187638;19344762;19351817;19370765;19417027;19453261;19556619;19598235;19680743;19893451;20078941;20160348;20219210;20379614;20554328;20802235;21070662;21139137;21295543;21392742;21401966;21552290;21617231;21728718;21788388;21832049;21988832;22265740;22343487;22388998;22404213;22939624;23027130;23332094;23341610;23416450;23453885;23598414;23727532;23832765;23869086;23874207;24145651;24327398;24722188;7657612;7806211;7823156;7828539;8344249;8619474;8621424;8889548;8895847;9110174;9195161;9197281;9462753;9488719;9648868;9778053;9856458;9927421;9973222 4916 B7Z7U4;H0YM90;Q16288;Q96CY4;R4GMR8;R4GN40;R4GNH5;X5D2R1;X5D7M5;X5DNW6 ABBA01052993;ABBA01052994;AC009711;AC011966;AC021677;AF052184;AF058389;AF058390;AF125808;AI613045;AJ224521;AK297160;AK302504;AK309695;AK313646;AL134171;AMYH02030999;AMYH02031000;AMYH02031001;AMYH02031002;AY065844;BC013693;BC128249;BG741347;BI962878;BM675026;BM887782;BQ893817;BT007291;CB053605;CH471101;CK903553;DA789502;KJ534904;KJ534905;KJ534906;KJ535052;NG_029619;NM_001007156;NM_001012338;NM_001243101;NM_002530;S76475;S76476;U05012;XM_006720542;XM_006720543;XM_006720544;XM_006720545;XM_006720546;XM_006720547;XM_006720548;XM_006720549;XM_006720550;XM_006720551;XM_006720552 AAA75374;AAB33111;AAB33112;AAC97478;AAC97479;AAF19762;AAH13693;AAL40893;AAP35955;AHW56544;AHW56545;AHW56546;AHW56691;BAH12511;BAH13730;CAA12029;EAX01989;EAX01990;EAX01991;EAX01992;EAX01993;NP_001007157;NP_001012338;NP_001230030;NP_002521;Q16288;XP_006720605;XP_006720606;XP_006720607;XP_006720608;XP_006720609;XP_006720610;XP_006720611;XP_006720612;XP_006720613;XP_006720614;XP_006720615 Hs.410969;Hs.706364 1644357;1671802;1672426;1697280;1715985;1718059;1724759;1725375;1729695;1730727;1731321;1750361;1753947;1757301;1783240;1783276;1790209;1794356;1794364;1794366;1794374;1794378;1854475;2167031;2175395 BE106688;D15S1230;D15S171;D15S550;D15S930;D15S99;D18S99;PMC311040P17;PMC311040P20;PMC311040P21;PMC311040P6;PMC311040P8;RH102137;RH119005;RH122586;RH122647;RH122735;RH78103;SGC30075;SHGC-112537;SHGC-144703;SHGC-154732;SHGC-156073;SHGC-30089;SHGC-89268 GP145-TrkC;TRKC;gp145(trkC);trk-C ETS related protein-neurotrophic receptor tyrosine kinase fusion protein;ETV6-NTRK3 fusion;NT-3 growth factor receptor;OTTHUMP00000192915;OTTHUMP00000240515;neurotrophin 3 receptor;neurotrophin 3 receptor truncated isoform;trkC tyrosine kinase;tyrosine kinase receptor C APPROVED protein-coding ENSG00000140538 HGNC:8033 01870 191316 REVIEWED 733351 NTSR2 neurotensin receptor 2 The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. Binding and pharmacological studies demonstrate that this receptor binds neurotensin as well as several other ligands already described for neurotensin NT1 receptor. However, unlike NT1 receptor, this gene recognizes, with high affinity, levocabastine, a histamine H1 receptor antagonist previously shown to compete with neurotensin for low-affinity binding sites in brain. These activities suggest that this receptor may be of physiological importance and that a natural agonist for the receptor may exist. [provided by RefSeq, Jul 2008] 2 2 2 p25.1 11715313 11727396 - 11798304 11810329 - 11658178 11670203 - 70631;1580863;6480464 8647296 10390649;11564178;11801734;12036977;12065070;12150975;12477932;15383539;15489334;16087676;16754659;18624930;19086053;19874574;19968961;20048080;20468071;23109725;8795617;9851594 23620 O95665 ABBA01015653;AC106875;AC110754;AMYH02003292;AY429107;BC022501;BC037776;BI758259;CH471053;NM_012344;XM_005246156;XM_006711876;XM_006711877;XM_006711878;Y10148 AAH22501;AAH37776;AAR07902;AAX82018;AAY14691;ABM84215;ABW03314;ABW03604;ABW03663;CAA71233;EAX00922;EAX00923;EAX00924;NP_036476;O95665;XP_005246213;XP_006711939;XP_006711940;XP_006711941 Hs.131138 2219210 NTSR2__6083 NT-R-2;NTR2 OTTHUMP00000147625;levocabastine-sensitive neurotensin receptor;neurotensin receptor type 2;neurotensin receptor, type 2 APPROVED protein-coding ENSG00000169006 HGNC:8040 05704 605538 REVIEWED 1602112 NUB1 negative regulator of ubiquitin-like proteins 1 This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 7 7 7 q36 145596247 145632781 + 151038785 151075547 + 151341699 151378461 + 6480464 10508479;11259415;11585840;12374762;12477932;12690205;12816948;12853948;14499622;14638743;14757770;15009209;15081406;15146197;15180275;15347646;15489334;16052170;16171779;16196087;16344560;16503656;16707496;16877356;17549501;18408180;18781797;19166848;19763160;20101219;20160729;21890473;21906983;21937912;21988832;22347407;22434192;22612509;22965877;22990118;23000965;23525043;23649778;24019527;24100225;24811749 51667 C9J7X7;C9JRT6;F8WDB6;F8WDL9;H3BM14;H3BM74;H7C5E1;H7C5N1;Q9Y5A7 AACC02000108;ABBA01035155;AC005486;AF108083;AF155099;AF300717;AF459743;AK026433;AK293159;AMYH02017072;AMYH02017073;AW205479;AY129295;BC034716;BC046354;BG105733;CH471173;CN258712;DB048887;KF458635;KF458638;NG_029746;NM_001243351;NM_016118;XM_005250010;XM_005250011;XM_005250012 AAC82474;AAD42865;AAH46354;AAK21001;AAN01355;AAO14547;AAS02030;BAH11464;EAL24511;EAW54000;EAW54001;EAW54002;EAW54003;NP_001230280;NP_057202;Q9Y5A7;XP_005250067;XP_005250068;XP_005250069 Hs.647082 1644396;1660301;1673226;1681205;1751381;1770986;2122293;2168749;2179557 GDB:1317446;GDB:4585237;GDB:4585447;RH17515;RH41874;RH48879;SGC34468;SHGC-105229;STS-T55335 BS4;NUB1L;NYREN18 NEDD8 ultimate buster 1;NEDD8 ultimate buster-1;NY-REN-18 antigen;OTTHUMP00000212033;OTTHUMP00000212055;renal carcinoma antigen NY-REN-18 APPROVED protein-coding ENSG00000013374 HGNC:17623 07450 607981 REVIEWED 6769052 NTRK3-AS1 NTRK3 antisense RNA 1 15 15 15 q25.3 65197201 65215552 + 88795961 88814297 + 88252730 88271066 + 14702039 283738 ABBA01052994;ABBA01052995;AC009711;AK097486;AMYH02031002;AMYH02031003;HG507373;NR_038229 Hs.578429 1697280;1794378 PMC311040P8;RH102137 RP11-356B18.2 APPROVED ncrna ENSG00000260305 HGNC:27532 VALIDATED 6481288 NUCB1-AS1 NUCB1 antisense RNA 1 q13.33 100874085 AC026803;BX114290;NR_046633 Hs.569933 APPROVED ncrna HGNC:40419 VALIDATED 1343672 NUBPL nucleotide binding protein-like This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 14 14 14 q12 11895904 12195785 + 32030591 32330430 + 31561385 31861224 + 6480464;7240710;8554872 12477932;14702039;15342556;15489334;17207965;18521091;19010793;19752196;20818383;20877624;20921969;23553477;24457600;24722188;8889548 80224 B3KSK2;B4DWB0;F8VP02;F8VZR8;F8W061;F8W0A2;H0YHR7;Q8TB37;X5D2R5 ABBA01061425;ABBA01061426;AK022722;AK093789;AK295326;AK301447;AK316445;AL163973;AL355112;AL359400;AL390798;AMYH02028956;AMYH02028957;BC024919;BM978769;BP274976;BQ649741;BX248028;BX648419;CH471078;CT002019;KJ534907;KJ534908;KJ534909;NG_028349;NM_001201573;NM_001201574;NM_025152;NR_120408;XM_005268099;XM_006720259;XM_006720260 AAH24919;ADQ31888;AHW56547;AHW56548;AHW56549;BAB14203;BAG52764;BAG58303;BAG62972;BAH14816;CAD62349;EAW65941;EAW65942;EAW65943;NP_001188502;NP_001188503;NP_079428;Q8TB37;XP_005268156;XP_006720322;XP_006720323 Hs.288981 1336437;1703536;1717253;1767583;1852151;2129864;2130717;2131783;2132146;2133341;2134888;2146969;2155458;2167367;2185750;5015619;5015961;5022578;5037552 D11S3114;D14S1040;D14S914;D14S941;D15S1477;D1S1423;D8S2279;G35364;G35381;G35403;G35437;G35639;G35657;G35670;G36128;RH122041;SHGC-37051;SHGC-82729;WI-11174 C14orf127;FLJ12660;IND1;huInd1 IND1 homolog;OTTHUMP00000243992;OTTHUMP00000243993;iron-sulfur protein NUBPL;iron-sulfur protein required for NADH dehydrogenase;nucleotide-binding protein-like APPROVED protein-coding ENSG00000151413 HGNC:20278 16600 252010;613621 REVIEWED 1321458 NUBP1 nucleotide binding protein 1 NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM, Mar 2008] 16 16 16 p13.13 11007059 11032475 + 10837643 10863208 + 10743786 10769351 + 1580863;6480464;8554872 10486206;10915798;12477932;15342556;18029348;18573874;18676680;19170196;19625176;21139048;21900206;21906983;22505724;22863883;22939629;24250222;7926816;8125298 4682 I3L3A0;I3L518;I3L531;P53384 ABBA01006796;AC074136;AK223204;AK307148;AK310089;AMYH02031454;BC100290;BC109322;BC109323;BP216107;BP225034;CH471112;KC877580;NM_001278506;NM_002484;U01833;XM_006720886 AAA61932;AAI00291;AAI09323;AAI09324;BAD96924;EAW85178;NP_001265435;NP_002475;P53384;XP_006720949 Hs.81469 1700250;2145908;2159128 240WE5;D16S2962;RH103742 MGC117406;MGC130052;MGC130053;NBP;NBP 1;NBP1;NBP35 OTTHUMP00000160170;cytosolic Fe-S cluster assembly factor NUBP1;nucleotide binding protein (e.coli MinD like);nucleotide binding protein 1 (E.coli MinD like);nucleotide binding protein 1 (MinD homolog, E. coli);nucleotide-binding protein 1 APPROVED protein-coding ENSG00000103274 HGNC:8041 02611 600280 VALIDATED 1314483 NTSR1 neurotensin receptor 1 (high affinity) Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008] 20 20 20 q13 58015902 58069780 + 61340189 61394123 + 62708837 62762771 + 1580863;1358670;6480464;8554872 11032391 10390649;10514511;10690540;10930533;11279203;11559354;11780052;11906607;12150975;12360476;14699144;14962098;15764810;16087676;16299383;16754659;17018595;17289170;18541341;18577758;18624930;18809332;19086053;19156213;19864207;19874574;19968961;20018219;20048080;20398908;20424473;20468064;20810387;20959865;21272935;21364741;21394204;21725197;21748756;21906983;22416137;22551944;23109725;23110888;23140271;23292156;23483448;23624386;23743782;23807075;23901225;8075503;8381365;8719037;8995438;9763490 4923 P30989 ABBA01021368;ABBA01021369;AL035669;AL357033;AMYH02037438;AY429106;BC040711;CH471077;CS174241;NM_002531;X70070 AAI52810;AAR07901;CAA49675;CAJ34549;EAW75345;NP_002522;P30989 Hs.590869 1682011;1686290;5117276 GDB:455350;RH70884;RH75982 NT-R-1;NTR;NTR1;NTRH OTTHUMP00000031500;high-affinity levocabastine-insensitive neurotensin receptor;neurotensin receptor type 1 APPROVED protein-coding ENSG00000101188 HGNC:8039 01218 162651 REVIEWED 734023 NUCB1 nucleobindin 1 This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010] 19 19 19 q13.33 46270663 46293902 + 49403307 49426540 + 48900050 48923283 + 1580863;6480464 10915798;11752444;12477932;14702039;1520323;15287731;15308636;15489334;16502470;17390015;17686766;18029348;18154733;18316326;18493301;19199708;19656946;19946888;20503436;20679342;21653697;21988832;22542527;22863883;22939629;23195954;24583282;24816145;7589456;8125298;8147883;8643612;8661046;9417904;9589460;9647645 4924 A8K7Q1;C9J3C1;C9JBD3;C9JKZ2;F8WB20;H7BZI1;Q02818 ABBA01032960;ABBA01032961;AC026803;AC245081;AI208532;AK025458;AK097790;AK222805;AK292066;AK303126;AK315422;AMYH02036312;BC002356;BC015787;BT009828;BX647291;BX647718;CH471177;M96824;NM_006184;U31336;U31337;U31338;U31339;U31340;U31341;U31342;U92978 AAA36383;AAB60431;AAH02356;AAH15787;AAP88830;AAX41711;AAX41712;AAX41713;AAX41714;BAD96525;BAF84755;BAG37811;BAG53528;BAG64232;BAI45949;EAW52411;EAW52412;NP_006175;Q02818 Hs.631602 1675694;1696882;1698066;1734606;1749171;2144270;5093400;5118099 D19S616E;G32696;G64281;RH102565;RH36573;RH80298;SHGC-110859;b05503rbk DKFZp686A15286;FLJ40471;NUC CALNUC;OTTHUMP00000201847;OTTHUMP00000201848;OTTHUMP00000201853;nucleobindin-1 APPROVED protein-coding ENSG00000104805 HGNC:8043 03205 601323 REVIEWED 1603952 NUAK2 NUAK family, SNF1-like kinase, 2 ENCODES a protein that exhibits ATP binding; magnesium ion binding; protein serine/threonine kinase activity; INVOLVED IN actin cytoskeleton organization; cellular response to glucose starvation; negative regulation of apoptotic process; INTERACTS WITH aflatoxin B1; arsane; arsenic atom 1 1 1 q32.1 178406280 178425974 - 205271191 205290883 - 205302059 205321755 - 6480464 11076863;11230166;11256614;11284715;12477932;14575707;14702039;14976552;15345718;15489334;15489336;15761153;16306228;16381901;18023418;18254724;18452098;18992219;19322201;19652946;19927127;20713714;21242312;21460252;21832049;21911917;22796592;22939624;23831117;24785407 81788 Q68E04;Q9H093 ABBA01027418;AC098933;AK074830;AK303577;AK309520;AL136891;AMYH02002547;BC017306;BX537564;CH471067;CQ782778;CR749209;NM_030952;XM_005245515 AAH17306;BAC11234;BAG64597;CAB66825;CAF86008;CAH18066;CAL37782;EAW91549;NP_112214;Q9H093;XP_005245572 Hs.497512 1685131;1766691;2116397;2129972;5015619;5015961;5020242;5022322;5024756;5037552;5491633 D11S2560;D11S2612;D11S3114;D15S1477;D8S2279;MARC_27500-27501:1034792583:1;RH80030;RH93941;SHGC-149973;SHGC-76219;SHGC-76220 DKFZp434J037;DKFZp686F01113;FLJ90349;SNARK NUAK family SNF1-like kinase 2;NUAK2 {ECO:0000312|EMBL:AAH17306.1};OTTHUMP00000035319;SNF1/AMP activated protein kinase;SNF1/AMP kinase-related kinase;omphalocele kinase 2 protein-coding ENSG00000163545 HGNC:29558 12172 608131 PROVISIONAL 1349940 NUDCD1 NudC domain containing 1 INVOLVED IN immune system process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 8 8 8 q23 106440850 106534040 - 110253148 110346486 - 109240919 109334121 - 737633;6480464;8554872 12477932 11416219;14688378;18534745;18754882;19615732;21139048;21906983;22863883;23402259;24163370;25036637 84955 E5RGX7;E5RHQ3;Q96RS6 ABBA01037710;ABBA01037711;ABBA01037712;AC021237;AF283301;AF283302;AF521133;AK027897;AK301278;AK307663;AK311583;AK315006;AL832317;AMYH02018599;AMYH02018600;AMYH02018601;BC000967;BC031258;BC043406;CH471060;NM_001128211;NM_032869;XM_006716673 AAH00967;AAH31258;AAH43406;AAK73017;AAM69373;AAQ08823;BAB55439;BAG62838;CAD38612;EAW91924;EAW91925;EAW91926;NP_001121683;NP_116258;Q96RS6;XP_006716736 Hs.380291 1666709;1675463;1716337;1772647;2184150 RH121198;RH70342;RH98525;STS-AA009819;STS-N32587 CML66;FLJ14991;OVA66 OTTHUMP00000227940;OTTHUMP00000227941;chronic myelogenous leukemia tumor antigen 66;nudC domain-containing protein 1;tumor antigen CML66 protein-coding ENSG00000120526 HGNC:24306 16200 606109 VALIDATED 1353286 NUDCD2 NudC domain containing 2 FOUND IN cytoplasm; extracellular vesicular exosome; intracellular; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; formaldehyde 5 5 5 q34 158914701 158921251 - 162880586 162887143 - 163453580 163460137 - 737633;6480464 12477932 11076863;11230166;11256614;15489334;15489336;16381901;20133715;21044950;21139048;21906983;22505724;22939629;23000965;23455924;24250222;24816145 134492 E5RFP0;Q8WVJ2 ABBA01044183;AC112205;AK311957;AMYH02012635;BC017934;BX538290;CH471062;FJ215684;NM_145266 AAH17934;ACJ05660;BAG34897;CAD98085;CAL37614;CAL38316;EAW61527;NP_660309;Q8WVJ2 Hs.140443 1646411;2139537;2159867;5015961;5020946;5022322;5022578;5037552;5092628 A005C11;D11S2560;D15S1477;D1S1423;D8S2279;G32223;L17971;RH36151;WI-14118 DKFZp686E10109 NudC-like protein 2;OTTHUMP00000160915;OTTHUMP00000224280;nudC domain-containing protein 2 protein-coding HGNC:30535 14058 PROVISIONAL 736162 NUCKS1 nuclear casein kinase and cyclin-dependent kinase substrate 1 This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010] 1 1 1 q32.1 178818181 178855596 - 205681947 205719372 - 205712819 205750244 - 6480464 11298763;12107411;12368243;12413487;12477932;14702039;15302935;15345747;15381070;15489334;16097034;16169070;16344560;16964243;17081983;17342744;17604136;18491381;19165527;19322201;19664271;19915575;19915576;20069058;20379614;20683486;21139048;22863883;22939629;23065711;23269536;23449627;23864651;24140890;24159190;24284105;24816145;25119009;8125298 64710 B4DTY3;Q9H1E3 AA760780;AB049824;ABBA01027406;ABBA01027407;AC119673;AF130080;AJ012584;AJ237668;AK025133;AK056578;AK095855;AK225228;AK300416;AMYH02002551;AY823399;BC000805;BC016311;BC025313;BC039469;BC067224;BC107728;BQ638451;CH471067;CR457339;DB004374;JB776330;NG_027548;NM_022731;XM_005245453 AAG35506;AAH00805;AAV83925;ABM82144;ABM85327;BAB15076;BAC06820;BAG62145;CAC20408;CAC20412;CAG33620;CDI44531;EAW91578;EAW91579;NP_073568;Q9H1E3;XP_005245510 Hs.213061;Hs.744865 1335951;1646396;1654770;1666980;1680643;1684018;1707212;1722695;1735962;1776999;1777053;2114735;2134576;2135097;2166318;2175103;2177667;5021317 D1S1909E;D1S1948E;D1S2379;D1S249;D1S3583;EST5G8;G34857;G34864;G60432;RH68392;RH98313;RH98819;SHGC-30044;SHGC-32226;SHGC-76227;SHGC-76245;SHGC-76252;SHGC-79193 FLJ21480;FLJ32016;FLJ38536;JC7;NUCKS;P1 OTTHUMP00000034230;nuclear ubiquitous casein and cyclin-dependent kinase substrate 1;nuclear ubiquitous casein and cyclin-dependent kinases substrate;nuclear ubiquitous casein kinase 2;nuclear ubiquitous casein kinase and cyclin-dependent kinase substrate;potential LAG1 interactor APPROVED protein-coding ENSG00000069275 HGNC:29923 11406 611912 REVIEWED 1352246 NUDT10 nudix (nucleoside diphosphate linked moiety X)-type motif 10 NUDT10 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008] X X X p11.23 55118909 55124202 + 51075083 51080377 + 51332231 51337525 + 6480464 12105228;12121577;12370170;12477932;15489334;15772651;16169070;17207965;18264097;18264098;20564319;21071540;24816145 170685 Q8NFP7 ABBA01060011;ABBA01060012;AC233976;AF469196;AK291952;AL158055;AMYH02039369;BC049383;BC050700;CH471180;NM_153183;XM_005262042 AAH49383;AAH50700;AAM64113;ADQ33055;BAF84641;EAW89910;EAW89911;NP_694853;Q8NFP7;XP_005262099 Hs.375178 2131572;2131574;5015306;5024906 DXS7057;NUDT11;SHGC-24010;WI-13729 APS2;DIPP-3-alpha;DIPP3-alpha;DIPP3a;hAps2;hDIPP3alpha OTTHUMP00000023298;OTTHUMP00000023299;diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-alpha;diadenosine hexaphosphate hydrolase (AMP-forming);diphosphoinositol polyphosphate phosphohydrolase 3-alpha;diphosphoinositol polyphosphate phosphohydrolase type 3 alpha;nucleoside diphosphate-linked moiety X motif 10;nudix motif 10 APPROVED protein-coding ENSG00000122824 HGNC:17621 17651 300527 PROVISIONAL 734220 NUCB2 nucleobindin 2 This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011] 11 11 11 p15.1 17428095 17482908 + 17281884 17371510 + 17260337 17349963 + 1580863;6480464 10381334;10915798;11749975;12087473;12477932;12909641;14702039;15308636;15604093;16344560;16407280;16502470;18029348;18154733;19199708;19262995;19351608;19913121;20030931;20032201;20427481;20427483;20625762;20628086;20813143;20881960;20937336;21139048;21145461;21252251;21459029;21554911;21653697;21803054;21890473;21988594;21988832;22020667;22036920;22108805;22203468;22225987;22270345;22334726;22367584;22863883;22950627;23141462;23155701;23178145;23266808;23269222;23306670;23346951;23515787;23524986;23613885;23739643;23764403;23768444;23796625;23955480;23958433;23980879;24048879;24092574;24259949;24422979;24464950;24654937;24816145;7811391;9639681 4925 E9PJP3;E9PKG6;E9PLE9;E9PLR0;E9PLR5;E9PM22;E9PME2;E9PRQ3;H0YD18;H0YEG8;J3KQU0;P80303;V9HW75 AB231311;AB478625;ABBA01061065;ABBA01061066;AC107956;AF052642;AF052643;AF052644;AF450266;AK093209;AK096475;AK097398;AK128739;AK291507;AMYH02024381;BC111556;CH471064;DA816251;EU039831;EU039832;EU039833;FJ224327;KF455328;NM_005013;X76732;XM_005252941;XM_005252942;XM_005252943;XM_005252944;XM_005252945;XM_005252947;XM_005252948;XM_006718239 AAC06300;AAC06301;AAC06302;AAM73810;ABS85532;ABS85533;ABS85534;ACI46019;BAE78964;BAF84196;BAJ09615;CAA54148;EAW68439;EAW68440;EAW68441;NP_005004;P80303;XP_005252998;XP_005252999;XP_005253000;XP_005253001;XP_005253002;XP_005253004;XP_005253005;XP_006718302 Hs.654599 1669868;1674338;1857842;2191187;5113216 D11S4169;MARC_16009-16010:1017078784:5;RH45016;RH98164;STS-N41019 HEL-S-109;NEFA DNA-binding protein NEFA;OTTHUMP00000231791;OTTHUMP00000231793;OTTHUMP00000231794;epididymis secretory protein Li 109;gastric cancer antigen Zg4;nefa precursor;nesfatin-1;nucleobindin-2;nucleobinding 2;prepronefastin;prepronesfatin APPROVED protein-coding ENSG00000070081 HGNC:8044 09726 608020 VALIDATED 1343668 NUDT11 nudix (nucleoside diphosphate linked moiety X)-type motif 11 NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008] X X X p11.22 55276697 55283279 - 51232863 51239459 - 51490011 51496607 - 1580863;6480464 11076863;11256614;12105228;12121577;12370170;12477932;14702039;15345747;15489334;15489336;15772651;16381901;18264097;18264098;18854154;19902474;21071540;21139048;22730461;24816145 55190 Q96G61 ABBA01059995;ABBA01059996;AK001490;AL158055;AMYH02039369;BC009942;BX419815;CH471180;NM_018159 AAH09942;BAA91720;CAL37484;EAW89906;NP_060629;Q96G61 Hs.200016 1648997;1664439;1689909;2133993;5024906;5092700 A005Q38;G15138;G32273;NUDT11;RH91954;WI-21118 APS1;ASP1;DIPP-3-beta;DIPP3-beta;DIPP3b;DIPP3beta;FLJ10628;hAps1;hDIPP3beta OTTHUMP00000023300;diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-beta;diadenosine hexaphosphate hydrolase (AMP-forming);diphosphoinositol polyphosphate phosphohydrolase 3, beta;diphosphoinositol polyphosphate phosphohydrolase 3-beta;nucleoside diphosphate-linked moiety X motif 11;nudix motif 11 APPROVED protein-coding ENSG00000196368 HGNC:18011 06667 300528 VALIDATED 1352388 NUDCP1 nuclear distribution gene C homolog (A. nidulans) pseudogene 1 2 2 2 q23.3 146860578 146861842 + 153246099 153247363 + 152389585 152390849 + 10453739 10790 ABBA01004792;AC012066;AF125466;AMYH02004994;NG_001230 2178013 RH69664 pseudo HGNC:8046 INFERRED 1349007 NUDT13 nudix (nucleoside diphosphate linked moiety X)-type motif 13 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 10 10 10 q22.1 68155703 68177250 + 74870133 74891583 + 73110375 73149441 + 6480464 11329013;12477932;15164054;15489334;16344560;16385451;20877624;22797925 25961 B4E059;Q86X67 ABBA01020336;ABBA01020337;ABBA01020338;ABBA01020339;AC016394;AK300980;AK303235;AK309755;AK316538;AL050114;AL521667;AL731721;AMYH02023331;AW167819;AX504097;BC031224;BC038833;BC046173;BG191548;CH471083;DB035851;NM_001283014;NM_001283015;NM_001283016;NM_001283017;NM_001283019;NM_015901;NR_104264;XM_005269684;XM_006717749;XM_006717750 AAH31224;AAH46173;BAG62602;BAG64321;BAH14909;CAB43279;CAD48790;EAW54471;EAW54472;EAW54473;EAW54474;EAW54475;NP_001269943;NP_001269944;NP_001269945;NP_001269946;NP_001269948;NP_056985;Q86X67;XP_005269741;XP_006717812;XP_006717813 Hs.533657 1660244;1662958;2109585;2119109 NUDT13_9439;RH79087;STS-N33610;STS-W80642 OTTHUMP00000019799;OTTHUMP00000019800;OTTHUMP00000035577;nucleoside diphosphate-linked moiety X motif 13;nudix motif 13 protein-coding ENSG00000166321 HGNC:18827 10124 609233 VALIDATED 1344595 NUDCD3 NudC domain containing 3 The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition. [provided by RefSeq, Jul 2008] 7 7 7 p13-p12 44520966 44629392 - 44421965 44530474 - 44382366 44490786 - 6480464;8554872 10470851;11181995;12477932;12690205;12853948;14702039;15146197;15489334;16189514;16754861;19615732;19806165;19875381;20379614;20562859;21139048;21145461;21890473;21906983;21963094;22863883;22939629;23000965;25036637;9847074 23386 Q8IVD9 AB028991;ABBA01058218;AC004453;AK024226;AK025555;AK026126;AK124729;AK127163;AK307613;AMYH02015618;AMYH02015619;AMYH02015620;AW138459;BC003691;BC011673;BC017657;BC035014;CH236960;CH471128;CN386226;EU350932;NM_015332 AAH03691;AAH11673;AAH35014;AAQ96892;ABY60409;BAA83020;BAB14855;EAL23754;EAW61099;EAW61100;EAW61101;NP_056147;Q8IVD9 Hs.488171 1335388;1340772;1650942;1723517;1735708;1740017;1777761;1847901;1858297;2120197;2152299;2171231;7185538;7185539 AFMA309XB1;D7S2164E;D7S2394;D7S2528;D7S2801;D7S667;GDB:1318304;GDB:1318344;RH118576;RH48524;T03354;WI-20696 KIAA1068;NudCL NudC-like protein;OTTHUMP00000159457;nudC domain-containing protein 3 APPROVED protein-coding HGNC:22208 13831 610296 REVIEWED 1343726 NUDCP2 nuclear distribution gene C homolog (A. nidulans) pseudogene 2 2 2 2 q31 172922329 172923271 + 179319443 179320385 + 178454716 178455658 + 10453739 10789 ABBA01062244;AC009948;AF125467;AMYH02005325;NG_001229;NG_009053;NG_012186 pseudo HGNC:8047 INFERRED 6769654 NUDT15P1 nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 1 8 8 q12.1 60470019 60470480 - 59557460 59557921 - 574532 ABBA01041796;AC087664;AMYH02018048;NG_031937 pseudo HGNC:17266 INFERRED 6484483 NUDT15P2 nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 2 17 17 q11.2 30755106 30762447 - 32428087 32435429 - 574533 ABBA01000716;AC005899;AMYH02033319;KF511231;NG_032793 pseudo HGNC:20784 INFERRED 1347227 NUDT16 nudix (nucleoside diphosphate linked moiety X)-type motif 16 ENCODES a protein that exhibits cobalt ion binding; dIDP diphosphatase activity; GTP binding; INVOLVED IN adenosine to inosine editing; dephosphorylation; IDP catabolic process; FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; copper(2+) sulfate 3 3 3 q22.1 129526187 129533346 + 131100515 131107674 + 131381671 131388830 + 737633;1580863;6480464 12477932 14702039;15053875;15342556;15489334;16712791;17567574;18607096;18820299;20081199;20385596;21070968;21337011 131870 Q96DE0 ABBA01059194;AC010210;AK055827;AK091353;AK093567;AK295852;AK304650;AMYH02007669;BC009546;BC031215;BP199028;BP219080;CB121755;CH471052;DC343245;NM_001171905;NM_001171906;NM_152395;NR_033268 AAH09546;AAH31215;BAB71024;BAG58658;BAG65426;EAW79210;NP_001165376;NP_001165377;NP_689608;Q96DE0 Hs.282050 1658997;1697660;1769938;2132288;2136456;2163284;2185390 RH102345;RH48866;RH68746;RH79085;SHGC-35112;SHGC-77345;SHGC-77347 FLJ31265;FLJ34034;FLJ36248 IDP phosphatase;IDPase;OTTHUMP00000216444;OTTHUMP00000216445;U8 snoRNA-binding protein H29K;U8 snoRNA-decapping enzyme;inosine diphosphate phosphatase;m7GpppN-mRNA hydrolase;nucleoside diphosphate-linked moiety X motif 16;nudix motif 16 protein-coding ENSG00000198585 HGNC:26442 08097 VALIDATED 1317982 NUDT15 nudix (nucleoside diphosphate linked moiety X)-type motif 15 ENCODES a protein that exhibits 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity; 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity; INVOLVED IN dGTP catabolic process; GTP catabolic process; FOUND IN cytosol (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 13 13 13 q14.2 29666454 29676033 + 48611703 48621282 + 48037567 48047146 + 1580863;6480464 12477932;12767940;14702039;15057823;15489334;19419956;20144704;21988832;24250222 55270 Q9NV35 ABBA01051001;AK001818;AL158196;AMYH02027997;AMYH02027998;BC050698;BC064607;BC107875;BC133015;BC133017;CH471075;NM_018283 AAH64607;AAI07876;AAI33016;AAI33018;BAA91925;EAX08782;NP_060753;Q9NV35 Hs.144407 FLJ10956;MGC104352;MTH2;RP11-90M2.1 7,8-dihydro-8-oxoguanine-triphosphatase NUDT15;8-oxo-dGTPase NUDT15;A730068G11Rik;OTTHUMP00000018389;mutT homolog 2;nucleoside diphosphate-linked moiety X motif 15;nudix motif 15;nudix-type motif 15;probable 7,8-dihydro-8-oxoguanine triphosphatase NUDT15;probable 8-oxo-dGTP diphosphatase NUDT15 protein-coding ENSG00000136159 HGNC:23063 14848 615792 PROVISIONAL 1342997 NUDT16L1 nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 ENCODES a protein that exhibits poly(A) RNA binding; snoRNA binding; INVOLVED IN metabolic process (inferred); PARTICIPATES IN syndecan signaling pathway; FOUND IN cytoplasm (inferred); INTERACTS WITH all-trans-retinoic acid; cadmium atom; copper(2+) sulfate 16 16 16 p13.3 4952472 4954638 + 4743526 4745860 + 4693530 4695859 + 6480464;6484113 11805099;12477932;14702039;15489334;15635413;16344560;17207965;18820299;19953087;21139048;21145461;21832049;21890473;21906983;22505724;23000965;24163370;24250222;24457600;8889548 84309 B2RD96;K7EIN2;K7ENA3;Q9BRJ7;W4VSQ8 ABBA01026783;AC023830;AK092642;AK315456;AMYH02031327;BC006223;BQ923183;BU739233;CH471112;DA607298;NM_001193452;NM_032349;XM_005255633 AAH06223;ADQ32796;BAC03933;BAG37843;EAW85277;EAW85278;NP_001180381;NP_115725;Q9BRJ7;XP_005255690 Hs.513315 1665763;1690292;1736428 D14S690E;RH91773;SHGC-60731 MGC11275;SDOS NUDT16-like protein 1;OTTHUMP00000159845;protein syndesmos protein-coding ENSG00000168101 HGNC:28154 15309 VALIDATED 1603358 NUDT16P1 nudix (nucleoside diphosphate linked moiety X)-type motif 16 pseudogene 1 INTERACTS WITH cyclosporin A 3 3 3 q22.1 129506361 129509638 + 131080689 131083966 + 131361845 131365122 + 6480464 12477932;16344560;21832049 152195 ABBA01059194;AC010210;AK000532;AK297126;AMYH02007669;BC015593;CH471052;DA541046;NR_002949;NR_027766 BAG59631;EAW79211 Hs.380350 1682694;2163284 RH92218;SHGC-77345 FLJ20525;NUDT16P APPROVED pseudo ENSG00000246082 HGNC:27189 14093 VALIDATED 731477 NUDC nudC nuclear distribution protein This gene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. Pseudogenes of this gene are found on chromosome 2. [provided by RefSeq, Feb 2012] 1 1 1 p35-p34 25645312 25669980 + 27248187 27273362 + 26921722 26946871 + 1358139;1580863;6480464 10210332;10453739;11076863;11230166;11256614;11734602;12477932;12679384;12852857;12885786;14676831;15342556;15489334;15489336;16088917;16381901;16710414;16860740;17081983;17353931;17658515;18029348;18288130;19135240;19560457;19615732;19875381;20360068;20529857;20562859;20675372;21044950;21081666;21139048;21473139;21890473;21906983;21907836;22190034;22505724;22623428;22863883;22939629;22990118;23000965;23364796;24069238;24255178;24816145;25036637;9601647 10726 Q9H2R7;Q9Y266 AB019408;ABBA01034934;ABBA01034935;ABBA01034936;ABBA01034937;ABBA01034938;AF086922;AF100760;AF125465;AF130736;AF241788;AL136725;AL356390;AMYH02000581;AMYH02000582;AMYH02000583;BC002399;BC003132;BC006147;BC007280;BC015153;BC021139;BP348144;CH471059;NM_006600 AAD30517;AAD39921;AAD43024;AAG44476;AAH02399;AAH03132;AAH06147;AAH07280;AAH15153;AAH21139;AAP97152;BAA76628;CAB66659;CAL37600;CAL38129;EAX07780;NP_006591;Q9Y266 Hs.263812 2178013;2179828;5022322;5037552 D11S2560;D8S2279;RH69664;SHGC-33625 HNUDC;MNUDC;NPD011 OTTHUMP00000004405;nuclear distribution C homolog;nuclear distribution gene C homolog;nuclear distribution gene c homolog (aspergillus);nuclear distribution protein C homolog;nuclear migration protein nudC APPROVED protein-coding ENSG00000090273 HGNC:8045 10122 610325 REVIEWED 5683669 NUDT19P1 nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 1 X X X q 118808713 118811950 - 118353971 118357208 - 119220008 119223245 - 100126008 ABBA01036707;ABBA01036708;AC004835;AMYH02040326;NG_006970 2055174 REN98751 pseudo HGNC:43585 INFERRED 1350013 NUDT17 nudix (nucleoside diphosphate linked moiety X)-type motif 17 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine 1 1 1 q21.1 119789861 119792805 - 145586491 145589435 - 145845488 145848753 + 737633;6480464 12477932 14702039;16710414;8889549 200035 P0C025 AA287243;ABBA01005742;AC239808;AK091752;AK298083;AL160282;BC046352;BG820863;CH471244;NM_001012758;XM_006711198 BAG60370;EAW71432;EAW71433;NP_001012776;P0C025;XP_006711261 Hs.585066 1658474;1660212;1680026;1699506;2175665 RH103347;RH68119;RH79814;SHGC-32015;WI-20383 FLJ34433 OTTHUMP00000015590;nucleoside diphosphate-linked moiety X motif 17;nudix motif 17 protein-coding HGNC:26618 18573 VALIDATED 1605623 NUDT18 nudix (nucleoside diphosphate linked moiety X)-type motif 18 The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012] 8 8 8 p21.3 20926679 20929248 - 21964383 21966932 - 22106872 22109419 - 6480464 12477932;16189514;16344560;16713569;17207965;19060904;21044950;22556419 79873 Q6ZVK8 ABBA01005504;AC091171;AC105206;AEKP01061801;AK026147;AK124446;AMYH02017589;BC016902;CH471080;DA015404;NG_032941;NM_024815 AAH16902;ADQ32358;BAB15376;BAC85853;EAW63719;NP_079091;Q6ZVK8 Hs.527101;Hs.745387 2159931 D8S322 FLJ22494;MTH3 2-hydroxy-dADP phosphatase;7,8-dihydro-8-oxoguanine phosphatase;8-oxo-dGDP phosphatase NUDT18;OTTHUMP00000224852;mutT homolog 3;mutT human homolog 3;nucleoside diphosphate-linked moiety X motif 18;nudix motif 18 APPROVED protein-coding ENSG00000275074 HGNC:26194 07992 615791 REVIEWED 1602031 NUDT19 nudix (nucleoside diphosphate linked moiety X)-type motif 19 ENCODES a protein that exhibits receptor binding; INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrion (inferred); peroxisome (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; copper atom 19 19 19 q13.11 29876499 29898331 + 33157186 33204702 + 32666281 32713796 + 6480464;8554872 16185196;16344560;20178365;20877624;21139048;21906983;21963094;22797925;22939629;23222517;23377640;24654937 390916 A8MXV4 ABBA01039600;ABBA01039601;AC008474;AC008736;AMYH02035920;AMYH02035921;CA438814;DA658958;DN998957;NM_001105570;XM_005258925 A8MXV4;NP_001099040;XP_005258982 Hs.203961 1731369;2157214;5015861;5016478;5022651;5037552;7184802;7185938 D10S16;D11S2921;D18S21;D8S2279;GDB:434012;STS-N33295 RP2 nucleoside diphosphate-linked moiety X motif 19, mitochondrial;nudix motif 19 protein-coding ENSG00000213965 HGNC:32036 VALIDATED 1322074 NUDT12 nudix (nucleoside diphosphate linked moiety X)-type motif 12 Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008] 5 5 5 q21.2 98832394 98846327 - 102884556 102898493 - 103548855 103562792 - 1580863;6480464;6907045 11076863;11230166;11256614;12477932;12790796;14702039;15489334;15489336;16381901;16712791;20379614;23290196;23400010;24529757 83594 E7EM93;Q9BQG2 ABBA01069144;AC008519;AK098066;AK304010;AK309942;AL136592;AMYH02011883;BC026748;BC041099;BC042967;BU621954;CB131118;CH471086;DB029218;DC417976;NM_001300741;NM_031438;XM_005272095;XM_005272096;XM_005272097 AAH26748;AAH41099;BAG53574;BAG64925;CAB66527;CAL37409;EAW49073;NP_001287670;NP_113626;Q9BQG2;XP_005272152;XP_005272153;XP_005272154 Hs.434289 1739243;1854652 D5S1802;SHGC-36365 DKFZp761I172 OTTHUMP00000158933;OTTHUMP00000222655;nucleoside diphosphate linked moiety X-type motif 12;nucleoside diphosphate-linked moiety X motif 12;nudix motif 12;peroxisomal NADH pyrophosphatase NUDT12 APPROVED protein-coding ENSG00000112874 HGNC:18826 10123 609232 VALIDATED 5683668 NUDT19P2 nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 2 X X X 102701040 102702033 + 102261999 102262992 + 103007071 103008064 + 100422458 ABBA01020999;AMYH02040162;NG_026867;Z73361 2160210 L77850 pseudo HGNC:43586 INFERRED 1321575 NUDT14 nudix (nucleoside diphosphate linked moiety X)-type motif 14 UDP-glucose (UDPG) acts as the sugar donor in numerous glycosylation reactions, including those involved in the production of glycogen. NUDT14 is a UDPG pyrophosphatase (EC 3.6.1.45) that hydrolyzes UDPG to produce glucose 1-phosphate and UMP (Yagi et al., 2003 [PubMed 12429023]).[supplied by OMIM, Mar 2008] 14 14 14 q32.33 85692507 85700860 - 105639274 105647660 - 105172937 105181323 - 1580863;6480464;8554872 12429023;12477932;12508121;12620389;15489334;16344560;21044950 256281 B3KXY7;F8VU44;O95848 AB087802;ABBA01008862;AF111170;AK128196;AK310449;AL512355;AMYH02029964;BC041584;BE671270;CH471061;DA249638;DA409636;DB096906;NM_177533;XM_005267499;XM_005267500 AAD15563;AAH41584;ADR82737;BAC65455;BAG54649;EAW81902;EAW81903;EAW81904;EAW81905;NP_803877;O95848;XP_005267556;XP_005267557 Hs.526432 5015961;5022322 D11S2560;D15S1477 UGPP OTTHUMP00000028453;OTTHUMP00000163909;UDP-sugar diphosphatase;UDPG pyrophosphatase;UGPPase;nucleoside diphosphate linked moiety X-type motif 14;nucleoside diphosphate-linked moiety X motif 14;nudix motif 14;uridine diphosphate glucose pyrophosphatase APPROVED protein-coding ENSG00000183828 HGNC:20141 14847 609219 VALIDATED 5683650 NUDT19P3 nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 3 6 6 6 115082599 115083190 - 114341213 114341804 - 114020049 114020640 - 100422450 ABBA01026061;AL590398;AMYH02014333;NG_025857 pseudo HGNC:43587 INFERRED 5683666 NUDT19P4 nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 4 6 6 6 46419116 46419778 + 44866370 44867032 + 44898633 44899295 + 100422452 ABBA01050635;AL360272;AMYH02013669;NG_025936 pseudo HGNC:43588 INFERRED 5683649 NUDT19P5 nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 5 4 4 4 156446434 156447002 + 159103977 159104545 + 158182825 158183393 + 100422445 ABBA01070203;AC098679;AMYH02010368;NG_025267 pseudo HGNC:43589 INFERRED 1352613 NUDT2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] 9 9 9 p13 34261031 34275223 + 34329504 34343711 + 34329506 34343713 + 1580863;6480464;6907045 10452553;10620341;11738085;12477932;12673352;12767470;15489334;15596429;15772762;1652465;20144233;20533549;20877624;21139048;23384440;7487923;7566098;7767787;8381042;8810257;9479504;9650578 318 P50583 AA310093;AA398857;ABBA01065014;AL353662;AL356494;AMYH02019444;AMYH02019445;BC004926;BG622439;BG825757;BM802700;BQ007098;CH471071;DN992111;NM_001161;NM_001244390;NM_147172;NM_147173;U30313 AAC50277;AAH04926;ABM83899;ABM87220;EAW58461;EAW58462;EAW58463;NP_001152;NP_001231319;NP_671701;NP_671702;P50583 Hs.493767;Hs.731743 1778917;2219212 NUDT2__6086;STS-N45093 APAH1;MGC10404 Ap4A hydrolase 1;Ap4Aase;OTTHUMP00000021256;OTTHUMP00000021257;OTTHUMP00000021258;OTTHUMP00000021259;bis(5'-nucleosyl)-tetraphosphatase;bis(5'-nucleosyl)-tetraphosphatase (asymmetrical);bis(5'-nucleosyl)-tetraphosphatase [asymmetrical];diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase;diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase;diadenosine tetraphosphatase;nucleoside diphosphate-linked moiety X motif 2;nudix motif 2 APPROVED protein-coding ENSG00000164978 HGNC:8049 04168 602852 REVIEWED 1313996 NUDT21 nudix (nucleoside diphosphate linked moiety X)-type motif 21 The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008] 16 16 16 q12.2 40961067 40983280 - 56463048 56485261 - 56429136 56451349 - 1580863;6480464;6907045;8554872 11060040;11076863;11230166;11256614;11716503;12226669;12477932;14561889;14690600;15169763;15231747;15489334;15489336;15592455;15635413;16055720;16169070;16189514;16381901;16713569;17098938;17172643;17353931;18445629;18767156;19738201;20479262;20695905;21139048;21145461;21295486;21320693;21890473;21900206;21906983;21963094;21987572;22053931;22379092;22446626;22505724;22623428;22863883;22939629;23000965;23125841;23184937;23402259;23455924;23463506;23602568;24332808;24337577;24457600;24778252;25015289;8626397;9659921 11051 H3BND3;H3BV41;O43809 ABBA01025245;ABBA01025246;AC092140;AJ001810;AK312721;AL535307;AMYH02032087;AMYH02032088;BC001403;BX537360;BX647665;CH471092;CR456919;NM_007006 AAH01403;ABM83068;ABM86262;BAG35595;CAA05026;CAD97606;CAG33200;CAI46057;CAL37869;CAL38097;EAW82859;EAW82860;NP_008937;O43809 Hs.528834 1664040;1668762;1672963;1685033;1736610;2186855;5092798;5115190 A006E47;D16S2602E;G32337;RH46552;RH65245;RH69254;RH69597;SHGC-61123 CFIM25;CPSF5;DKFZp686H1588 CPSF 25 kDa subunit;OTTHUMP00000164317;cleavage and polyadenylation specific factor 5, 25 kD subunit;cleavage and polyadenylation specific factor 5, 25 kDa;cleavage and polyadenylation specificity factor 25 kDa subunit;cleavage and polyadenylation specificity factor subunit 5;cleavage factor Im complex 25 kDa subunit;nucleoside diphosphate-linked moiety X motif 21;nudix motif 21;pre-mRNA cleavage factor Im (25kD);pre-mRNA cleavage factor Im 25 kDa subunit;pre-mRNA cleavage factor Im, 25kD subunit APPROVED protein-coding ENSG00000167005 HGNC:13870 05400 604978 REVIEWED 1601846 NUDT22 nudix (nucleoside diphosphate linked moiety X)-type motif 22 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; diazinon; menadione 11 11 11 q13.1 61320590 61324340 + 63993730 63997491 + 64226258 64230226 + 6480464;8554872 12477932;15489334;19913121;20237496;20628086;21139048;21784300;21890473;21906983;22505724;23000965 84304 F5H1N0;G3V1M6;H0YGG2;J3KQJ3;Q9BRQ3 ABBA01003289;ABBA01003290;AK308555;AMYH02024931;AP001453;AP006334;BC006129;BG705568;BM045237;BM923060;CH471076;HY075773;HY160553;NM_001128612;NM_001128613;NM_001271831;NM_032344;XM_005274353;XM_006718711 AAH06129;ADZ15364;EAW74204;EAW74205;EAW74206;EAW74207;EAW74208;EAW74209;EAW74210;EAW74211;NP_001122084;NP_001122085;NP_001258760;NP_115720;Q9BRQ3;XP_005274410;XP_006718774 Hs.656074;Hs.744098 MGC13045 OTTHUMP00000236873;OTTHUMP00000236874;nucleoside diphosphate-linked moiety X motif 22;nudix motif 22 protein-coding ENSG00000149761 HGNC:28189 14434 VALIDATED 1343260 NUDT4P1 nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1 12 1 1 q21.1 93442897 93466741 + 145136108 145139932 - 148748600 148752401 + 6480464 11376937;15342556 440672 AC245389;AF311215;AL359758;BF588558;BP248127;NR_002212 Hs.601274 1679998;2128159;2143448;5015961;5022322;5037552;5092772 D11S2560;D15S1477;D8S2279;G32320;RH44622;RH66999;RH69482 FLJ23763;NUDT4P2 pseudo HGNC:18012 VALIDATED 1320933 NUDT3 nudix (nucleoside diphosphate linked moiety X)-type motif 3 NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011] 6 6 6 p21.2 35810343 35914774 - 34254971 34360457 - 34287194 34392680 - 1580863;6480464 10419486;10585413;12370170;12477932;14574404;15489334;16169070;16189514;16344560;18854154;19322201;19585659;19893584;20935630;21139048;21565611;21900206;23708086;24816145;9822604 11165 O95989 ABBA01038183;ABBA01038184;ABBA01038185;ABBA01038186;ABBA01038187;AF062529;AF062530;AK313440;AL355855;AMYH02013512;AMYH02013513;BC007727;BC024593;BG714472;BT019984;BT019985;CA430332;CH471081;DA803962;NM_006703;Z98036 AAC83224;AAC83225;AAH07727;AAV38787;AAV38788;ABM84044;ABM87390;BAG36231;EAX03781;NP_006694;O95989 Hs.188882 1654970;1675025;1693942;1738057;5015404;5015861;5022576;5022651;5109092;5109663;5118444;7185938 1866;D10S16;D11S2921;D11S3316;D11S3674;D1S1361;D7S2067E;D8S1027;G42665;L17705;RH37434 DIPP;DIPP-1;DIPP1 OTTHUMP00000016227;diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 1;diphosphoinositol polyphosphate phosphohydrolase 1;nucleoside diphosphate-linked moiety X motif 3;nudix motif 3 APPROVED protein-coding HGNC:8050 14849 609228 VALIDATED 1344947 NUDT4P2 nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 2 1 1 p12-p13 3113186 3117023 + 146297773 146301610 + 11376937 170688 AC243756;AF311216;AK074343;NR_104005 Hs.601274 pseudo HGNC:18013 VALIDATED 4891984 NUDT21P1 nudix (nucleoside diphosphate linked moiety X)-type motif 21 pseudogene 1 13 13 13 69259147 69259736 - 88417862 88418451 - 87765607 87766196 - 100422467 ABBA01027271;AL445647;AMYH02028425;NG_024870 pseudo HGNC:39461 INFERRED 1350832 NUDT7 nudix (nucleoside diphosphate linked moiety X)-type motif 7 The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 16 16 16 q23.1 62054090 62073833 + 77756389 77809332 + 77722492 77742260 + 6480464 11415433;15146197;15616553;19844255;20178365;21145461;23251661;24250222 283927 H3BMZ7;H3BRQ8;P0C024 AA227330;AA579048;ABBA01017031;AC092134;AC092724;AI927964;AK296963;AMYH02032431;BU579534;BX387030;BX494638;CH471114;CN297379;ES309123;EU981826;NG_028059;NM_001105663;NM_001243657;NM_001243660;NM_001243661 AAI72303;ACH71652;BAG59507;EAW95595;EAW95596;NP_001099133;NP_001230586;NP_001230589;NP_001230590;P0C024 Hs.282665 1699930 RH103573 nucleoside diphosphate-linked moiety X motif 7;nudix motif 7;peroxisomal coenzyme A diphosphatase NUDT7 APPROVED protein-coding ENSG00000140876 HGNC:8054 609231 REVIEWED 1345944 NUDT9P1 nudix (nucleoside diphosphate linked moiety X)-type motif 9 pseudogene 1 10 10 10 q23.32 86658188 86659276 - 92911752 92912840 - 91151995 91153083 - 737633 12477932 15489334;16189514;18521090;19573479 119369 ABBA01021930;AL731553;AMYH02023521;BC029544;NR_002779 Hs.441287 C10orf98;MGC34007;bA56M3.1 pseudo HGNC:28523 PROVISIONAL 735257 NUDT6 nudix (nucleoside diphosphate linked moiety X)-type motif 6 This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 4 4 4 q26 121196643 121226966 - 123813799 123844159 - 122892644 122923004 - 1580863;6480464 10022609;11266510;11801566;12477932;15247275;15489334;16712791;17203973;17569023;17681892;18401527;19054571;19416273;19423540;19913121;20406964;20438785;20628086;20800603;21139048;21890473;7984147;7999082;9406864 11162 B4DG76;E9PBZ9;H0Y9C0;P53370 AB209758;ABBA01044743;AC021205;AF019632;AF019633;AK291871;AK294450;AMYH02010021;AMYH02010022;BC009842;BG386740;CB128685;CH471056;NG_030404;NM_007083;NM_198041 AAD01635;AAD01636;AAH09842;ABM84065;ABM87422;BAD92995;BAF84560;BAG57687;EAX05217;EAX05218;EAX05219;EAX05220;EAX05221;NP_009014;NP_932158;P53370 Hs.558459 1775110;2116174;2152380;2158726;2182177;5024039 D16S325;G09429;SHGC-31504;SHGC-59517;SHGC-59784;SHGC-68235 ASFGF2;FGF-2;FGF-AS;FGF2AS;GFG-1;GFG1;bFGF;gfg OTTHUMP00000037514;OTTHUMP00000037515;OTTHUMP00000219776;antisense basic fibroblast growth factor;nucleoside diphosphate-linked moiety X motif 6;nudix motif 6;nudix-type motif 6 APPROVED protein-coding ENSG00000170917 HGNC:8053 05880 606261 REVIEWED 731881 NUDT1 nudix (nucleoside diphosphate linked moiety X)-type motif 1 Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Jul 2008] 7 7 7 p22 2251549 2260471 + 2281857 2290780 + 2242222 2251145 + 1580863;6480464 10373420;10536140;10608900;11136354;11139615;11572992;11756418;11852070;12051680;12051941;12477932;12619034;12690205;12717453;12757855;12857738;12903117;12957652;14634838;15095864;15133035;15449173;15489334;15516784;15654505;15730954;15931596;16600130;16607562;16774934;17142918;17207658;17252231;17353931;17417778;17917452;18029348;18091433;18270339;18510611;18515411;18708163;18776649;18848840;20144704;20453000;21139048;21145461;21289483;21355073;21421019;21538080;21784087;21787772;21906983;21963094;22688191;22790201;22841817;23295485;23396182;23974872;24144844;24695224;24695225;7713494;7713500;7782328;8226881;9211940 4521 C9J361;P36639 AB025233;AB025234;AB025235;AB025236;AB025237;AB025238;AB025239;AB025240;AB025241;AB025242;ABBA01039362;AC004971;AK026631;AMYH02015064;BC014618;BC022818;BC040144;BC051375;BC065367;BM927392;CH236953;CH471144;CR407655;D16581;D38594;DQ230907;NM_002452;NM_198948;NM_198949;NM_198950;NM_198952;NM_198953;NM_198954 AAH14618;AAH40144;AAH51375;AAH65367;ABB02181;BAA04013;BAA07601;BAA83791;BAA83792;BAA83793;BAA83794;BAA83795;BAA83796;BAA83797;BAA83798;BAA83799;BAA83800;CAG28583;EAL23948;EAL23949;EAW87225;EAW87226;EAW87227;EAW87228;EAW87229;EAW87230;EAW87231;EAW87232;NP_002443;NP_945186;NP_945187;NP_945188;NP_945190;NP_945191;NP_945192;P36639 Hs.534331 1676874;2152985 MTH1;RH80750 MTH1 2-hydroxy-dATP diphosphatase;7,8-dihydro-8-oxoguanine triphosphatase;8-oxo-7,8-dihydrodeoxyguanosine triphosphatase;8-oxo-7,8-dihydroguanosine triphosphatase;8-oxo-dGTPase;OTTHUMP00000024690;OTTHUMP00000115537;OTTHUMP00000115538;OTTHUMP00000115539;OTTHUMP00000115540;mutT human homolog 1;mutt (e. coli) human homolog (8-oxo-dgtpase);nucleoside diphosphate-linked moiety X motif 1;nucleoside diphosphate-linked moiety X-type motif 1;nudix motif 1 APPROVED protein-coding ENSG00000106268 HGNC:8048 02634 600312 REVIEWED 1352650 NUDT9 nudix (nucleoside diphosphate linked moiety X)-type motif 9 The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 4 4 4 q22.1 85632851 85668688 + 88343728 88380606 + 87422576 87459454 + 1580863;6480464;6907045 11385575;11825615;12427752;12477932;12897971;12948489;12975309;14702039;15342556;15489334;16303743;16860484;19199708;19574167;21832049;21988832 53343 D6R8Z6;D6RAW2;H7C386;Q8NG26;Q96KB3;Q9BW91 ABBA01063535;ABBA01063536;AC112250;AF265341;AF273028;AK027295;AK074845;AK075408;AK308028;AMYH02009677;AY026252;AY359123;BC000542;BI552154;BM544951;BP277630;BQ446599;BU623625;CH471057;CQ783706;NG_030358;NM_001248011;NM_024047;NM_198038 AAH00542;AAK07671;AAM46066;AAM46068;AAQ89480;BAB55021;BAC11239;BAC11601;CAF86821;EAX05988;EAX05989;EAX05990;NP_001234940;NP_076952;NP_932155;Q9BW91 Hs.149500 2109587 NUDT9_9765 MGC3037;NUDT10 ADP-ribose diphosphatase;ADP-ribose phosphohydrolase;ADP-ribose pyrophosphatase, mitochondrial;ADP-ribose pyrosphosphatase NUDT9;ADPR-PPase;OTTHUMP00000161163;OTTHUMP00000218561;OTTHUMP00000218562;OTTHUMP00000218564;adenosine diphosphoribose pyrophosphatase;nucleoside diphosphate linked moiety X-type motif 9;nucleoside diphosphate-linked moiety X motif 9;nudix motif 9 APPROVED protein-coding ENSG00000170502 HGNC:8056 09353 606022 REVIEWED 1319158 NUDT8 nudix (nucleoside diphosphate linked moiety X)-type motif 8 ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; paracetamol 11 11 11 q13.2 64729875 64731853 - 67395409 67397408 - 67627938 67629937 - 1580863;6480464;8554872 11415433;12477932;14702039;15489334;16712791;20877624 254552 Q8WV74 ABBA01024026;AK123561;AMYH02024997;AP003385;BC018644;CB140633;CH471076;NM_001243750;NM_181843 AAH18644;BAC85646;EAW74660;EAW74661;NP_001230679;NP_862826;Q8WV74 Hs.433329 1798244 TBX10_2578 FLJ41567 OTTHUMP00000235633;OTTHUMP00000235634;nucleoside diphosphate-linked moiety X motif 8, mitochondrial;nudix motif 8 protein-coding ENSG00000167799 HGNC:8055 17652 VALIDATED 1320353 NUDT4 nudix (nucleoside diphosphate linked moiety X)-type motif 4 The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008] 12 12 12 q21 93442852 93467713 + 93771701 93797024 + 93377925 93403248 + 1580863;6480464 10777568;11376937;12121577;12370170;12477932;15252450;15489334;18976975;24816145;8125298;9455484 11163 F8VRL4;F8VRR0;Q9NZJ9 AB007956;ABBA01053376;ABBA01053377;ABBA01053378;AC025260;AC090050;AC124947;AF067803;AF191649;AF191650;AF191651;AF191652;AF191653;AF191654;AF191655;AK223497;AK304296;AK315778;AMYH02026945;BC012069;BC051310;BG777287;BM193309;BP315657;BT020109;BT020110;CB961167;CH471054;CN335956;CR749445;DC323957;DQ786307;NG_029507;NM_001301022;NM_001301023;NM_001301024;NM_019094;NM_199040;XM_005268595 AAF68855;AAF68856;AAF68857;AAF68858;AAF68859;AAF75563;AAH12069;AAH51310;AAV38912;AAV38913;ABM83125;ABM86320;BAD97217;BAE16985;BAG38126;BAH14152;CAH18283;EAW97475;EAW97476;EAW97477;EAW97478;EAW97479;NP_001287951;NP_001287952;NP_001287953;NP_061967;NP_950241;Q9NZJ9;XP_005268652 Hs.506325 1658539;1677696;1679998;1704084;1739613;1746899;1774007;2128159;2143448;5015961;5022322;5037552;5092772;5111647 D11S2560;D12S1482E;D15S1477;D8S2279;G32320;G64791;RH44622;RH66999;RH69428;RH69482;RH98224;SHGC-83355;WI-15515;WI-17678 DIPP-2;DIPP2;DIPP2alpha;DIPP2beta;DKFZp686I1281;HDCMB47P;KIAA0487 OTTHUMP00000243079;OTTHUMP00000243080;OTTHUMP00000243082;OTTHUMP00000243083;OTTHUMP00000243084;diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 2;diphosphoinositol polyphosphate phosphohydrolase 2;diphosphoinositol polyphosphate phosphohydrolase type 2;nucleoside diphosphate-linked moiety X motif 4;nudix motif 4 APPROVED protein-coding ENSG00000173598 HGNC:8051 14850 609229 REVIEWED 1351975 NUFIP1P nuclear fragile X mental retardation protein interacting protein 1 pseudogene INTERACTS WITH N-acetyl-1,4-benzoquinone imine 6 6 6 q12 64965645 64969117 - 66801368 66804838 - 66091475 66094945 - 6480464 10894927 89761 ABBA01023925;AL049842;AMYH02013836;NG_001030 pseudo HGNC:8058 INFERRED 1345366 NUDT5 nudix (nucleoside diphosphate linked moiety X)-type motif 5 This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013] 10 10 10 p14 12139104 12167676 - 12209573 12238143 - 12167574 12196144 - 1580863;6480464;6907045 10373642;10567213;10722730;11042152;12477932;12717453;15489334;15592455;16002790;16169070;16716086;17052728;17261271;18462755;19056867;19699693;20144704;20176146;20360068;21139048;21389046;21768126;21890473;21900206;21906983;21963094;22200976;22351996;22505724;22863883;22939629;23000965;23184937;23581889;24816145 11164 A6NCQ0;A6NFX8;A6NJU6;C9JYY9;H0YEY4;Q9UKK9 ABBA01034667;ABBA01034668;AC073160;AF155832;AF161464;AF218818;AK291131;AK314144;AL512770;AMYH02022142;AMYH02022143;BC000025;BU602000;CH471072;CR457195;NM_014142 AAF06734;AAF25479;AAF29079;AAH00025;BAF83820;CAG33476;EAW86320;EAW86321;EAW86322;NP_054861;Q9UKK9 Hs.555956 1672206;1678359;1701008 RH104131;RH17930;SHGC-33307 YSA1;YSA1H;YSAH1;hYSAH1 8-oxo-dGDP phosphatase;ADP-sugar pyrophosphatase;OTTHUMP00000019112;OTTHUMP00000019113;OTTHUMP00000019114;OTTHUMP00000019116;OTTHUMP00000019117;nucleoside diphosphate linked moiety X-type motif 5;nucleoside diphosphate-linked moiety X motif 5;nudix motif 5 APPROVED protein-coding ENSG00000165609 HGNC:8052 14851 609230 VALIDATED 1606255 NUFIP2 nuclear fragile X mental retardation protein interacting protein 2 ENCODES a protein that exhibits poly(A) RNA binding; RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; membrane; nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; ethyl methanesulfonate; formaldehyde 17 17 17 q11.2 24442372 24480641 - 27582854 27621166 - 29255836 29294148 - 6480464;8554872 10718198;12477932;12837692;14702039;15144186;15324660;15345747;15489334;15576338;16407062;16964243;17000644;17081983;18029348;18781797;19322201;19542561;19615732;19946888;20020773;21145461;21906983;21987572;22586326;23182705;24130170;24457600;24778252;24816145;8889548 57532 A1L3A7;Q7Z417 AB037742;ABBA01015027;ABBA01015028;ABBA01015029;AC005412;AJ493465;AK001838;AK293075;AK297732;AMYH02033239;AMYH02033240;AY232289;BC056662;BC108307;BC129989;BC129990;BM969349;CH471159;NM_020772 AAI08308;AAI29990;AAI29991;AAP69984;BAA92559;BAF85764;BAG60082;CAD38278;EAW51186;EAW51187;NP_065823;Q7Z417 Hs.462598 1644972;1678631;1680012;1681396;1682545;1686931;1690912;1734398;2137118;5093912 D17S1373E;D17S1664;G31143;G32997;RH17557;RH39377;RH67690;RH80000;RH91719;RH98857 182-FIP;82-FIP;FIP-82;FLJ10976;KIAA1321;MGC117262;PIG1 82 kDa FMRP-interacting protein;82-kD FMRP Interacting Protein;FMRP-interacting protein 2;Fragile X Mental Retardation Protein;cell proliferation-inducing gene 1 protein;nuclear fragile X mental retardation-interacting protein 2;proliferation-inducing gene 1 protein-coding ENSG00000108256 HGNC:17634 11764 609356 VALIDATED 1317446 NUF2 NUF2, NDC80 kinetochore complex component This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008] 1 1 1 q23.3 136396004 136429820 + 163291723 163325553 + 163321933 163355763 + 6480464;8554872 11266451;11685532;12438418;12477932;14602875;14654001;14699129;14702039;15062103;15235793;15239953;15371340;15489334;15548592;15713649;15961401;16169070;16565220;16710414;17043677;17081983;17129783;17353931;17535814;18770861;19081476;19525938;19536175;19779646;19878654;19946888;20360068;20508983;21139048;21270439;21906983;21963094;21988832;22505724;22939629;23000965;23056589;24129578;24247253;24816145 83540 B1AQT3;B1AQT4;E9PKH1;E9PP32;E9PQC4;Q9BZD4 AB050577;AB050578;ABBA01047300;AF326731;AK093348;AL592435;AMYH02002047;BC008489;BC021171;BI545465;CH471067;NM_031423;NM_145697 AAH08489;AAH21171;AAK01426;ABM84096;ABM87468;BAB59141;BAB59142;BAC04140;EAW90735;EAW90736;EAW90737;NP_113611;NP_663735;Q9BZD4 Hs.651950 1692388;2144616 AL033842;RH70126 CDCA1;CT106;NUF2R;hNuf2;hNuf2R;hsNuf2 NUF2, NDC80 kinetochore complex component, homolog;OTTHUMP00000032177;OTTHUMP00000032178;OTTHUMP00000232326;OTTHUMP00000232327;cancer/testis antigen 106;cell division cycle associated 1;cell division cycle-associated protein 1;kinetochore protein Nuf2 APPROVED protein-coding ENSG00000143228 HGNC:14621 10817 611772 REVIEWED 1348962 NUMB numb homolog (Drosophila) The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 53805138 53989581 - 73741858 73925288 - 73275205 73458582 - 1334451;1580863;6480464;6484113;6907045;8554872 15492044 10468633;10953014;11121447;11752454;11782429;11922143;12011466;12477932;12606711;12646252;12682059;12775724;12942088;14670962;14702039;14990566;15489334;16002321;16273093;16394100;16508311;16678796;16865239;16964243;17081983;17115028;17203073;17301032;17609107;17903303;18172499;18179751;18384513;18599481;18628966;19138666;19344753;19468255;19581412;19795205;20818436;21122105;21139048;21356309;21486681;21775625;21832049;21890473;21939656;21988832;22157679;22337874;22455121;22553175;22593191;22734830;22784712;23000965;23092984;23140583;23233047;23252402;23624653;23706821;23872314;23881403;24302991;24332178;7568168;7596406;8755477;9303539;9535908;9632782 8650 G3V3M5;G3V3R1;G3V3Z8;G3V433;G3V4S6;P49757 AA872908;ABBA01030760;ABBA01030761;ABBA01030762;ABBA01030763;ABBA01030764;AC004846;AC005280;AC245368;AF015040;AF108092;AF109907;AF171938;AF171939;AF171940;AF171941;AK023670;AK055876;AK226069;AK294591;AK300602;AK304193;AK315130;AL391733;AMYH02029486;AMYH02029487;AMYH02029488;AMYH02029489;AMYH02029490;AMYH02029491;AMYH02029492;AMYH02029493;BC020788;BC033824;BC068476;BG654811;BX248073;BX248775;BX248781;BX647137;CH471061;EU265734;EU265735;EU265736;EU265737;EU265738;L40393;NG_029061;NM_001005743;NM_001005744;NM_001005745;NM_003744;XM_005268142;XM_005268143;XM_005268144;XM_005268145;XM_005268146;XM_006720283;XM_006720284;XM_006720285;XM_006720286;XM_006720287;XM_006720288;XM_006720289;XM_006720290;XM_006720291;XM_006720292;XM_006720293;XM_006720294;XM_006720295;XM_006720296 AAC42000;AAC97962;AAD01548;AAD27959;AAD54279;AAD54280;AAD54281;AAD54282;AAH20788;AAH33824;AAH68476;ABY89090;ABY89091;ABY89092;ABY89093;ABY89094;ADZ16000;BAG37583;BAG57779;BAG62299;BAG65073;CAD62362;CAD66582;CAD66588;EAW81100;EAW81101;EAW81102;EAW81103;EAW81104;EAW81105;EAW81106;EAW81107;EAW81108;EAW81109;EAW81110;EAW81111;EAW81112;EAW81113;EAW81114;NP_001005743;NP_001005744;NP_001005745;NP_003735;P49757;XP_005268199;XP_005268200;XP_005268201;XP_005268202;XP_005268203;XP_006720346;XP_006720347;XP_006720348;XP_006720349;XP_006720350;XP_006720351;XP_006720352;XP_006720353;XP_006720354;XP_006720355;XP_006720356;XP_006720357;XP_006720358;XP_006720359 Hs.525443;Hs.654609;Hs.714879 1643830;1646682;1646768;1646782;1647350;1649951;1651982;1652482;1663091;1664978;1666692;1667511;1669161;1687742;1715149;1736418;1738933;1740169;1769553;1772241;1774483;1849444;1850920;1851528;1855086;2108323;2112140;2116524;2119467;2120482;2122904;2123254;2130630;2132161;2133071;2136186;2139398;2145880;2147012;2147415;2148904;2152249;2154284;2155932;2157854;2164153;2164155;2164229;2165562;2166672;2166828;2173789;2180187;2183859;2184190;5014051;5015619;5016478;5037552;5109281 A002Y24;A005B48;D11S3114;D14S1363;D14S668E;D14S677E;D14S785;D14S910;D1S1425;D8S2278;D8S2279;G09798;G20251;G35561;G35586;G35619;G35656;G35775;G35969;G36028;G36073;G36075;G36158;G36161;G36193;G38062;G38064;G38065;G38067;G38126;G38127;G38135;G38139;G38152;G38157;G38167;G38177;G38185;G38193;G38195;G38196;G38201;G38204;G38206;G38207;G38208;G38213;G38221;G38222;G38228;G38267;G38322;G38336;GDB:434012;NUMB_8841;RH119825;RH44754;RH44790;RH91720;SHGC-31602 C14orf41;FLJ31314;S171;c14_5527;h-Numb OTTHUMP00000246017;OTTHUMP00000246579;OTTHUMP00000246580;OTTHUMP00000246581;OTTHUMP00000246583;OTTHUMP00000246683;OTTHUMP00000246684;OTTHUMP00000246713;OTTHUMP00000246759;protein numb homolog APPROVED protein-coding ENSG00000133961 HGNC:8060 04767 603728 REVIEWED 1316854 NUMBL numb homolog (Drosophila)-like INVOLVED IN cytokine-mediated signaling pathway; protein metabolic process; lateral ventricle development (ortholog); PARTICIPATES IN Notch signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; pirinixic acid; 17beta-estradiol (ortholog) 19 19 19 q13.13-q13.2 37972233 37996968 - 41171810 41196556 - 40665905 40691757 - 1580863;6480464;6907045;8554872 10896157;12011466;12477932;15324660;15489334;16273093;16713569;16899352;17081983;18299187;18854154;18940473;20079715;21988832;22446962;22593207;23440423;23681800;7568168;8755477;9169836;9225980;9303539 9253 B7Z5W0;M0QXQ4;M0QYC2;M0QZV7;M0R0Q4;Q9Y6R0 ABBA01040783;ABBA01040784;ABBA01040785;AC010412;AF015041;AI374943;AK289398;AK299484;AMYH02036122;AMYH02036123;BC001794;BC016160;BC144583;BI552675;BT009807;CF138383;CH471126;HY111715;NM_001289979;NM_001289980;NM_004756;U80758;XM_006723471 AAB91449;AAD01549;AAI67835;AAP88809;BAF82087;BAH13046;EAW56986;NP_001276908;NP_001276909;NP_004747;Q9Y6R0;XP_006723534 Hs.326953 1681620;1745929;1778582 G34996;G64278;RH75304 CAG3A;CTG3a;NBL;NUMB-R;NUMBR;TNRC23 NUMBLIKE;numb homolog-like;numb-like protein;numb-related protein protein-coding ENSG00000105245 HGNC:8061 04931 604018 VALIDATED 731840 NUP153 nucleoporin 153kDa Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 6 6 6 p22.3 18853298 18944916 - 17615266 17707065 - 17615035 17706834 - 1580863;6480464;8554872 10069809;10202161;10601273;10629106;10668806;10749866;10891500;11024021;11073998;11238447;11266456;11567018;11574060;11598013;11777942;11839768;11896061;12138183;12163599;12191473;12192048;12228227;12477932;12802065;12894213;12917407;14578343;14718558;15229283;15302935;15522285;15632149;15659641;16133350;16344560;16543150;16964243;17081983;17255949;17314511;17426026;17615301;17916694;18029348;18068677;18187620;18391951;18854154;19158386;19369352;19454010;19471022;19596686;19615732;20126445;20360068;20561986;20658144;20936779;21139048;21145461;21182205;21318276;21327100;21327106;21489275;21555518;21593146;21693764;21858095;21890473;21906983;21963094;21983083;22075984;22082286;22110128;22118420;22174692;22249246;22412018;22505724;22510057;22586326;22688647;22939629;23000965;23007389;23097450;23251661;23523133;23752268;23883001;24051001;24130490;24418548;24816145;7603572;8110839;9114010;9275187;9847314 9972 P49790 AB210024;ABBA01022221;ABBA01022222;ABBA01022223;AI948895;AK295644;AL138724;AL138824;AL157776;AL597150;AMYH02013202;AMYH02013203;AMYH02013204;AW269393;BC052965;CB217525;CH471087;DA856239;NM_001278209;NM_001278210;NM_005124;XM_005249507;XM_006715290;XM_006715291;Z25535 AAH52965;BAE06106;BAG58514;CAA80982;EAW55384;EAW55385;NP_001265138;NP_001265139;NP_005115;P49790;XP_005249564;XP_006715353;XP_006715354 Hs.601591 1658517;1662941;1668118;1683940;1739089;1847443;2140835 D6S1356;D9S2018;G17061;RH66430;RH68534;RH80550;WI-19208 HNUP153;N153 153 kDa nucleoporin;OTTHUMP00000016070;nuclear pore complex protein Nup153;nuclear pore complex protein hnup153;nucleoporin 153kd;nucleoporin Nup153 APPROVED protein-coding ENSG00000124789 HGNC:8062 04899 603948 REVIEWED 732596 NUP107 nucleoporin 107kDa This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 12 12 12 q15 68744181 68799945 + 69080731 69136473 + 68686951 68742693 + 1580863;6480464;8554872 10601273;11564755;11684705;12228227;12477932;12552102;12705868;12802065;12894213;14702039;15146057;15229283;15489334;15557116;16196087;16565220;16807356;16964243;17081983;17360435;17363900;17768364;18187620;18570875;19471022;19674973;19864462;19946888;20081840;20139978;20360068;20490895;20676042;20833136;21139048;21145461;21890473;21906983;21963094;21987572;22031293;22505724;22586326;22713280;22797925;22939629;23383273;24250222;24315095;24457600;24654937;24816145;25027693;9166401 57122 F5GY77;G3V1T4;H0YG15;P57740 ABBA01026552;ABBA01026553;AC090061;AC124890;AJ295745;AK002079;AK055629;AK094183;AK302773;AK315157;AMYH02026699;BC017167;BC017670;BC043343;CH471054;NM_020401;XM_005269037 AAH17167;AAH43343;BAG51012;BAG63979;CAC03716;EAW97194;EAW97195;NP_065134;P57740;XP_005269094 Hs.524574 1751943 SHGC-105915 NUP84 107 kDa nucleoporin;OTTHUMP00000240604;OTTHUMP00000240606;nuclear pore complex protein Nup107;nucleoporin Nup107 APPROVED protein-coding ENSG00000111581 HGNC:29914 06356 607617 REVIEWED 1347229 NUFIP1 nuclear fragile X mental retardation protein interacting protein 1 This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012] 13 13 13 q14 26569484 26619733 - 45513384 45563613 - 44939249 44989478 - 1580863;6480464 10556305;10894927;12477932;12837692;12941608;15057823;15107825;15489334;16344560;17081983;17636026;18029348;20201926;20360068;23362303;24816145 26747 Q9UHK0 ABBA01021226;AF159548;AK314242;AL354816;AL359706;AMYH02027963;BC001436;BC017745;CH471075;DA701559;NG_032080;NM_012345 AAF15315;AAH17745;EAX08719;NP_036477;Q9UHK0 Hs.525006 1857038;2167961;2168466 023WC1;RH68789;SGC35199 bA540M5.1 NUFIP;OTTHUMP00000018342;nuclear FMRP-interacting protein 1;nuclear fragile X mental retardation protein-interacting protein 1;nuclear fragile X mental retardation-interacting protein 1 APPROVED protein-coding ENSG00000083635 HGNC:8057 05073 604354 REVIEWED 1317249 NUP133 nucleoporin 133kDa The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 202845335 202912382 - 229577044 229644088 - 229441297 229508341 - 1580863;6480464;8554872 10395558;10546895;10601273;11564755;11684705;12228227;12477932;12705868;14702039;15146057;15489334;15557116;16196087;16565220;16964243;17081983;17098863;17314511;17360435;17363900;17768364;18187620;18570875;18597806;19471022;19674973;19913121;19946888;20360068;20628086;20676042;21139048;21890473;21906983;21963094;22268729;22412018;22505724;22586326;22863883;22939629;23000965;23752268;24457600;24816145;25027693;8619474;9110174 55746 Q5TDI3;Q8WUM0 ABBA01009822;ABBA01009823;AF052123;AK001676;AK001754;AK022572;AK092339;AK304061;AK304861;AK314431;AL121990;AL139252;AL160004;AMYH02002869;AMYH02002870;AMYH02002871;BC020107;CH471098;NG_011969;NM_018230 AAH20107;ABM85194;ABW03687;BAA91829;BAA91885;BAB14106;BAG37045;BAG64968;BAG65599;EAW69899;EAW69900;NP_060700;Q8WUM0 Hs.12457 1657338;1657742;1657744;1664409;1767070;1769264;1858224;2133412;2217680 AL009816;NUP133_3652;RH11940;RH12639;SHGC-35003;UniSTS:23130;WI-10134;WI-11389;WI-15719 FLJ10814;MGC21133;hNUP133 133 kDa nucleoporin;OTTHUMP00000037467;OTTHUMP00000037468;nuclear pore complex protein Nup133;nucleoporin 133kD;nucleoporin Nup133 APPROVED protein-coding ENSG00000069248 HGNC:18016 06354 607613 REVIEWED 1318746 NUMA1 nuclear mitotic apparatus protein 1 This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] 11 11 11 q13 69015884 69093534 - 71713910 71791732 - 72002864 72080693 - 1580863;6480464 10023777;10075938;10189366;10504299;10594058;10739661;10913114;11229403;11521196;11590136;11781568;11790298;11956313;12080061;12111331;12239178;12477932;12508117;12519782;14718566;14737102;14968112;15161933;15302935;15388855;1541630;1541636;15537540;15561764;15592455;15637283;15684076;16076287;16146802;16263121;16565220;16964243;17081983;17092945;17108325;17172455;17293864;17401638;17609108;17643375;18029348;18331640;18417561;19124506;19255246;19394292;19454010;19522705;19596686;19615282;19759176;19759913;19805454;20137953;20360068;20379614;20467816;20479129;20508983;21044950;21081666;21139048;21182205;21252943;21255834;21282530;21297155;21319273;21406448;21549307;21628590;21693764;21697133;21865670;21890473;21906983;22023725;22094256;22178446;22412018;22552228;22586326;22619067;22719996;22751105;22939629;22944692;22977735;22990118;23000965;23097092;23184937;23368718;23383273;23389635;23589328;23707952;23718855;23828576;23921553;24165937;24309115;24332808;24350565;24457600;24469800;24591637;24639526;24725408;24816145;7004645;7769006;7962183;8406455;8408288;8505359;8838651;8898198;9288109;9586635 4926 F5GWA2;F5GWK2;F5GZW1;F5H068;F5H073;F5H0Z7;F5H1L0;F5H2F3;F5H3L6;F5H4J1;F5H4Y4;F5H6Y5;F5H763;F5H7R5;F8W6T3;H0YFY6;K4DIE0;Q14980;Q3SYK8;Q4LE64 AB208841;AB210007;AB621824;ABBA01017542;ABBA01017543;ABBA01017544;AF012302;AF110460;AK290509;AK307577;AK309041;AMYH02025072;AMYH02025073;AMYH02025074;AMYH02025075;AP002490;BC004165;BC008345;BC013023;BC027493;BC032228;BC036808;BC043499;BC068539;BC103765;BG754891;BG771637;CH471076;NM_001286561;NM_006185;NR_104476;XM_006718562;XM_006718563;XM_006718564;XM_006718565;XM_006718566;XM_006718567;XM_006718568;XM_006718569;XM_006718570;Z11583;Z11584;Z14227;Z14228;Z14229 AAC33408;AAD16994;AAH04165;AAH08345;AAH13023;AAH27493;AAH43499;AAI03766;BAD92078;BAE06089;BAF83198;BAK64159;CAA77669;CAA77670;EAW74821;EAW74822;EAW74823;EAW74824;EAW74825;EAW74826;EAW74827;EAW74828;EAW74829;EAW74830;EAW74831;NP_001273490;NP_006176;Q14980;XP_006718625;XP_006718626;XP_006718627;XP_006718628;XP_006718629;XP_006718630;XP_006718631;XP_006718632;XP_006718633 Hs.325978;Hs.591967 1664365;1698648;1747617;2126167;2134900;2177186;2180499;5015961;5022322;5022651;5037552 D11S2560;D11S2921;D11S4713;D12S2124;D15S1477;D8S2279;G65532;NUMA;RH102881;RH46401;WI-16987 NUMA OTTHUMP00000236522;OTTHUMP00000236570;OTTHUMP00000236571;SP-H antigen;centrophilin stabilizes mitotic spindle in mitotic cells;structural nuclear protein protein-coding ENSG00000137497 HGNC:8059 01236 164009 REVIEWED 1319746 NUP205 nucleoporin 205kDa ENCODES a protein that exhibits structural constituent of nuclear pore; INVOLVED IN nuclear pore complex assembly; FOUND IN membrane; nuclear membrane; nuclear periphery; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzene; coumestrol 7 7 7 q33 129980097 130070963 + 135242662 135333501 + 135557914 135648753 + 1580863;6480464 10601273;10668806;12228227;12477932;12802065;15229283;15489334;15703211;16196087;16344560;17353931;19454010;19596686;19615732;19738201;19946888;20547757;20562859;20639865;21139048;21145461;21252943;21623375;21890473;21906983;21963094;21987572;21988832;22053931;22268729;22446626;22505724;22586326;22623428;22863883;22939629;23000965;23222517;23383273;23464991;23658844;24457600;24639526;24654937;24816145;25015289;25027693;9039502;9348540 23165 Q92621;U3KPX2;U3KQ47;U3KQ97;U3KQH5 ABBA01001122;ABBA01001123;AC093107;AK293497;AK297307;AMYH02016821;AMYH02016822;BC044255;BC063612;BC073947;BC094868;BC136624;BC146784;CH236950;CH471070;D86978;DA111772;KF458614;NM_015135;XM_005250235 AAH44255;AAH63612;AAH73947;AAH94868;AAI36625;AAI46785;BAA13214;BAG56983;BAG59773;EAW83855;EAW83856;NP_055950;Q92621;XP_005250292 Hs.743250 2128315;2131033 RH11027;RH25431 C7orf14 205 kDa nucleoporin;OTTHUMP00000208108;nuclear pore complex protein Nup205;nucleoporin Nup205 protein-coding ENSG00000155561 HGNC:18658 17653 614352 VALIDATED 734441 NUP155 nucleoporin 155kDa Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013] 5 5 5 p13.1 37178878 37258122 - 37291735 37371228 - 37291633 37371126 - 1580863;6480464;8699517;7240710;8554872 10191094;10601273;12034489;12228227;12477932;14645504;14702039;15231748;15489334;15703211;16344560;18187620;18781797;18976975;19070573;19471022;19615732;19738201;19946888;20227665;20360068;20562859;20974814;21139048;21145461;21252943;21464227;21693764;21890473;21906983;21924735;21963094;21987572;21994675;22053931;22268729;22323290;22412018;22505724;22586326;22797925;22863883;22939629;23000965;23125841;23152829;23798571;24778252;24816145;25027693;8599106;9872452 9631 B4DLT2;D6RA13;E9PF10;O75694 AB018334;ABBA01024179;ABBA01024180;ABBA01024181;ABBA01024182;ABBA01024183;ABBA01024184;AC008832;AC025449;AC117532;AF165926;AI037962;AJ007558;AK002103;AK297143;AK315028;AL117585;AMYH02011174;AMYH02011175;AMYH02011176;BC039257;BM478072;BQ435836;BQ937467;BU601425;CH471119;DA249538;DC401967;NG_034131;NM_001278312;NM_004298;NM_153485 AAD52966;AAH39257;BAA34511;BAG51015;BAG59644;CAA07553;CAB56007;EAW55957;EAW55958;EAW55959;NP_001265241;NP_004289;NP_705618;O75694 Hs.547696 1334712;1785302;2181626;5491565 D5S1903;D5S2023;MARC_21512-21513:1032982746:3;SHGC-110804 ATFB15;KIAA0791;N155 155 kDa nucleoporin;OTTHUMP00000116013;OTTHUMP00000221170;OTTHUMP00000221171;nuclear pore complex protein Nup155;nucleoporin 155kD;nucleoporin Nup155 APPROVED protein-coding ENSG00000113569 HGNC:8063 05984 606694;615770 REVIEWED 1346505 NUP210 nucleoporin 210kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [provided by RefSeq, Jul 2013] 3 3 3 p25.1 13295991 13400071 - 13357730 13461819 - 13316230 13420319 - 1580863;6480464;8554872 10048485;10469352;10546895;10601273;11782456;12228227;12477932;12653556;14517331;14702039;15231747;15489334;15613247;15710222;16303743;16337775;16565220;16641997;16702234;19738201;19851296;19946888;20198315;20379614;21139048;21252943;2184032;21890473;21906983;2195063;21963094;22108332;22268729;22505724;22586326;22623428;22939629;23097496;23798571;24457600;24639526;7504063;8125298;8672508 23225 Q8TEM1 AA909765;AB020713;ABBA01025174;ABBA01025175;ABBA01025176;AC027124;AC069246;AK026042;AK074101;AK075545;AK225409;AL117527;AMYH02006309;AMYH02006310;AMYH02006311;BC020573;BC067089;BC068109;BM508095;CH471055;HY177936;NM_024923;XM_005264994;XR_245105 AAH67089;BAA74929;BAB15332;BAB84927;BAC11688;CAB55979;EAW64150;EAW64151;EAW64152;EAW64153;EAW64154;NP_079199;Q8TEM1;XP_005265051 Hs.475525 1646148;1648944;2133922;2158630;2218576 Cda14e10;D3S3948;G09947;NUP210__3790;RH12715 FLJ22389;GP210;KIAA0906;POM210 OTTHUMP00000208000;nuclear envelope pore membrane protein POM 210;nuclear pore membrane glycoprotein 210;nuclear pore protein gp210;nucleoporin Nup210;pore membrane protein of 210 kDa APPROVED protein-coding ENSG00000132182 HGNC:30052 06368 607703 REVIEWED 5489016 NUP210P2 nucleoporin 210kDa pseudogene 2 3 3 3 p25.2 11878674 11879908 + 11941485 11942719 + 11900011 11901245 + 100129929 ABBA01025211;AC090958;AMYH02006280;NG_022238 1757761 SHGC-146471 pseudo HGNC:42707 INFERRED 5488963 NUP210P3 nucleoporin 210kDa pseudogene 3 3 3 3 127473089 127474027 - 129041881 129042819 - 129323038 129323976 - 100419070 ABBA01020935;AC137695;AMYH02007639;NG_025625 pseudo HGNC:42712 INFERRED 1348104 NUP188 nucleoporin 188kDa The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013] 9 9 9 q34.11 102361838 102421686 + 131709972 131769375 + 128947693 129007096 + 6480464 10668806;11029043;12477932;15146197;17353931;17567994;19596235;19596686;19615732;19738201;19946888;20360068;21139048;21565611;21890473;21906983;21963094;21987572;22053931;22505724;22586326;22623428;22863883;22939629;22990118;23000965;23602568;24457600;24583282;24816145;8724849 23511 Q5SRE5 AA731883;ABBA01043908;ABBA01043909;ABBA01043910;ABBA01043911;ABBA01043912;ABBA01043913;AK025292;AL592211;AL672142;AMYH02021728;BC005407;BC040352;BC111045;BX537774;CH471090;CN297641;D79991;DQ656057;HY094051;NG_033111;NM_015354 AAH05407;AAH40352;AAI11046;AAI60096;BAA11486;CAD97835;EAW87850;EAW87851;EAW87852;EAW87853;NP_056169;Q5SRE5 Hs.308340 1334588;1662554;1675563;1773962;1799234;1799672;1799884;1801216;1806850;1809280;1810292;1811046;1811274;1811408;1811652;1813358;1813424;1813572;1813634;1815992;1818188;1818534;1819686;1820248;1821998;1825166;1825308;1825946;1829800;1829860;1829968;1831022;1832436;1832438;1835712;1835764;1836552;1844546;1845992;1855883;1931476;1931478;1931480;1931482;1931484;1931486;1931488;1931490;1931492;1931494;1931496;1931498;1931500;1931502;1931504;1931506;1931508;1931510;1931512;1931514;1931516;1931518;1931520;1931522;1931524;1931526;1931528;1931530;1931532;1931534;1931536;1931538;1931540;1931542;1931544;1931546;1931548;1931550;1931552;1931554;1931556;1931558;1931560;1931562;1931564;1931566;1931568;1931570;1931572;1931574;1931576;1931578;1931580;1931582;1931584;1931586;1931588;1931590;1931592;1931594;1931596;1931598;1931600;1931602;1931604;1931606;1931608;1931610;1931612;1931614;1931616;1931618;1931620;1931622;1931624;1931626;1931628;1931630;1931632;1931634;1931636;1931638;1931640;1931642;1931644;1931646;1931648;1931650;1931652;1931654;1931656;1931658;1931660;1931662;1931664;1931666;1931668;1931670;1931672;1931674;1931676;1931678;1931680;1931682;1931684;1931686;1931688;1931690;1931692;1931694;1931696;1931698;1931700;1931702;1931704;1931706;1931708;1931710;1931712;1931714;1931716;1931718;1931720;1931722;1931724;1931726;1931728;1931730;1931732;1931734;1931736;1931738;1931740;1931742;1931744;1931746;1931748;1931750;1931752;1931754;1931756;1931758;1931760;1931762;1931764;1931766;1931768;1931770;1931772;1931774;1931776;1931778;1931780;1931782;1931784;1931786;1931788;1931790;1931792;1931794;1931796;1931798;1931800;1931802;1931804;1931806;1931808;1931810;1931812;1931814;1931816;1931818;1931820;1931822;1931824;1931826;1931828;1931830;1931832;1931834;1931836;1931838;1931840;1931842;1931844;1931846;1931848;2110609;2125707;2156740;2208080;2208082;2208084;2208086;2208088;2208090;2208092;2208094;2208096;2208098;2208100;2208102;2208104;2208106;2208108;2208110;2208112;2208114;2208116;2208118;2208120;2208122;2208124;2208126;2208128;2208130;2208132;2208134;2208136;2208138;2208140;2208142;2208144;2208146;2208148;5022578;7185603 D1S1423;D9S260;ECD00465;ECD00690;ECD00796;ECD01480;ECD04390;ECD05630;ECD06138;ECD06521;ECD06635;ECD06702;ECD06829;ECD07700;ECD07733;ECD07809;ECD07840;ECD09036;ECD10151;ECD10329;ECD10910;ECD11198;ECD12085;ECD13684;ECD13760;ECD14082;ECD16033;ECD16063;ECD16117;ECD16647;ECD17357;ECD17358;ECD19013;ECD19043;ECD19440;ECD23487;ECD24216;NUP188_9358;REN36567;REN36568;REN36569;REN36570;REN36571;REN36572;REN36573;REN36574;REN36575;REN36576;REN36577;REN36578;REN36579;REN36580;REN36581;REN36582;REN36583;REN36584;REN36585;REN36586;REN36587;REN36588;REN36589;REN36590;REN36591;REN36592;REN36593;REN36594;REN36595;REN36596;REN36597;REN36598;REN36599;REN36600;REN36601;REN36602;REN36603;REN36604;REN36605;REN36606;REN36607;REN36608;REN36609;REN36610;REN36611;REN36612;REN36613;REN36614;REN36615;REN36616;REN36617;REN36618;REN36619;REN36620;REN36621;REN36622;REN36623;REN36624;REN36625;REN36626;REN36627;REN36628;REN36629;REN36630;REN36631;REN36632;REN36633;REN36634;REN36635;REN36636;REN36637;REN36638;REN36639;REN36640;REN36641;REN36642;REN36643;REN36644;REN36645;REN36646;REN36647;REN36648;REN36649;REN36650;REN36651;REN36652;REN36653;REN36654;REN36655;REN36656;REN36657;REN36658;REN36659;REN36660;REN36661;REN36662;REN36663;REN36664;REN36665;REN36666;REN36667;REN36668;REN36669;REN36670;REN36671;REN36672;REN36673;REN36674;REN36675;REN36676;REN36677;REN36678;REN36679;REN36680;REN36681;REN36682;REN36683;REN36684;REN36685;REN36686;REN36687;REN36688;REN36689;REN36690;REN36691;REN36692;REN36693;REN36694;REN36695;REN36696;REN36697;REN36698;REN36699;REN36700;REN36701;REN36702;REN36703;REN36704;REN36705;REN36706;REN36707;REN36708;REN36709;REN36710;REN36711;REN36712;REN36713;REN36714;REN36715;REN36716;REN36717;REN36718;REN36719;REN36720;REN36721;REN36722;REN36723;REN36724;REN36725;REN36726;REN36727;REN36728;REN36729;REN36730;REN36731;REN36732;REN36733;REN36734;REN36735;REN36736;REN36737;REN36738;REN36739;REN36740;REN36741;REN36742;REN36743;REN36744;REN36745;REN36746;REN36747;REN36748;REN36749;REN36750;REN36751;REN36752;REN36753;RH25386;RH35819;RH98324;SHGC-33284;STS-H17411;WI-21818;stSG628088;stSG628089;stSG628090;stSG628091;stSG628094;stSG628095;stSG628096;stSG628097;stSG628098;stSG628099;stSG628101;stSG628102;stSG628103;stSG628105;stSG628106;stSG628107;stSG628108;stSG628109;stSG628110;stSG628111;stSG628112;stSG628113;stSG628114;stSG628115;stSG628116;stSG628117;stSG628118;stSG628119;stSG628120;stSG628121;stSG628122;stSG628123;stSG628124;stSG628125;stSG628126 FLJ21639;KIAA0169;hNup188 OTTHUMP00000022317;hNup188;nucleoporin NUP188 homolog protein-coding ENSG00000095319 HGNC:17859 18582 615587 REVIEWED 1353367 NUP35 nucleoporin 35kDa This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013] 2 2 2 q32.1 177585188 177622496 + 183982247 184026408 + 183117490 183161684 + 1580863;6480464 10601273;12196509;12228227;12477932;15489334;15703211;15815621;16600873;16964243;17081983;17207965;18029348;18256286;19379481;19641022;20200978;21139048;21444689;21906983;21963094;22678362;22939629;22960634;23000965;23891004;24250222 129401 C9IYQ7;C9JIY9;C9JWU7;F8WCF5;F8WEL4;Q8NFH5 ABBA01062311;AC064871;AC079249;AF411516;AF514993;AK289601;AK290760;AK298199;AK302350;AMYH02005373;AMYH02005374;BC022333;BC035597;BC047029;BC061698;BC111016;BI818393;BI821231;CH471058;CX787176;FN117342;HY031440;NM_001287584;NM_001287585;NM_138285;NR_109856;XM_005246284;XM_006712254;XM_006712255 AAH47029;AAH61698;AAL86379;AAM76704;AAX88896;AAY24198;ADQ33128;BAF82290;BAF83449;BAG60469;BAG63676;EAX10948;NP_001274513;NP_001274514;NP_612142;Q8NFH5;XP_005246341;XP_006712317;XP_006712318 Hs.180591 1657778;1685049;2176651;5037552;5118885 D11S3752;D2S2502;D8S2279;RH25234;STS-Z40051 MP-44;MP44;NP44;NUP53 35 kDa nucleoporin;OTTHUMP00000163458;OTTHUMP00000205369;mitotic phosphoprotein 44;nuclear pore complex protein Nup53;nucleoporin NUP53;nucleoporin Nup35 APPROVED protein-coding ENSG00000163002 HGNC:29797 10486 608140 REVIEWED 4108511 NUP210P1 nucleoporin 210kDa pseudogene 1 3 3 3 q21.3 124805216 124815074 + 126380924 126390782 + 126662081 126671939 + 12477932;15489334 255330 ABBA01016385;AC078867;AMYH02007593;BC042038;NR_034158 AAH42038 Hs.145435 1784824 SHGC-155383 C3orf46 APPROVED pseudo ENSG00000198284 HGNC:27399 VALIDATED 1626574 NUGGC nuclear GTPase, germinal center associated ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); INVOLVED IN cellular response to DNA damage stimulus (inferred); GTP catabolic process (inferred); somatic hypermutation of immunoglobulin genes (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred) 8 8 8 p21.1 26839322 26901233 - 27879481 27941431 - 28021964 28083914 - 8554872 15221005;15592455;18029348;19734146;20379614;20877300;22833677;23247143;8889548 389643 C9JSP2;Q68CJ6 AA482187;AA768146;AB075870;ABBA01005595;ABBA01005596;AC019031;AC091573;AK129923;AMYH02017681;AMYH02017682;BU429067;CF137482;NM_001010906;XM_005273501;XM_005273502;XM_005273503 AAI60159;BAC85251;BAD38652;NP_001010906;Q68CJ6;XP_005273558;XP_005273559;XP_005273560 Hs.370129 1750481;1756797;1766673;1779704;5037552;5109281;5117897 D1S1425;D8S2279;GDB:631813;SHGC-111789;SHGC-143927;SHGC-149960;SHGC-153679 C8orf80;FLJ26413;HMFN0672;SLIP-GC GTPase SLIP-GC;OTTHUMP00000208983;nuclear GTPase SLIP-GC;speckled-like pattern in the germinal center APPROVED protein-coding ENSG00000189233 HGNC:33550 PROVISIONAL 736309 NUP50 nucleoporin 50kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q13.31 29471176 29495330 + 45559726 45583892 + 45163845 45188011 + 1580863;6480464 10449902;10591208;10601273;10891499;10891500;11447110;12176322;12228227;12361592;12477932;12802065;14702039;15461802;15489334;16648475;16964243;17081983;18854154;19596235;20016008;20360068;20379614;21139048;21145461;21832049;21890473;21906983;22130666;22412018;22505724;22863883;22939629;23000965;23007389;23602568;23752268;24250222;24816145 10762 B0QY21;B1AHA5;B4E2D3;F2Z3L9;Q9UKX7;X6RKQ2 ABBA01007128;ABBA01007129;AF107840;AF116624;AF267865;AK095860;AK304223;AK314454;AL008718;AL050007;AL389949;AL389950;AL389951;AL704529;AMYH02038512;BC016055;BC020260;BC028125;BC039468;BC070133;BI461522;CH471138;CR456533;NM_007172;NM_153645;XM_005261312;XM_005261313;XM_005261314;XM_006724103;XM_006724104;Z82243 AAD53401;AAF71047;AAG44734;AAH16055;AAH28125;AAH70133;ACE87793;ACT64427;BAG37062;BAG65095;CAB97527;CAB97528;CAB97529;CAG30419;CAK54564;CAK54863;EAW73370;EAW73372;EAW73373;NP_009103;NP_705931;Q9UKX7;XP_005261369;XP_005261370;XP_005261371;XP_006724166;XP_006724167 Hs.475103 1682397;1858233;2138055;5037552;5094626 AL008660;D12S2114;D8S2279;PMC166143P11;RH26205 MGC39961;NPAP60;NPAP60L 50 kDa nucleoporin;OTTHUMP00000199529;OTTHUMP00000199530;OTTHUMP00000199531;OTTHUMP00000199539;nuclear pore complex protein Nup50;nuclear pore-associated protein 60 kDa-like;nuclear pore-associated protein 60L;nucleoporin 50kD;nucleoporin Nup50 APPROVED protein-coding ENSG00000093000 HGNC:8065 05226 604646 REVIEWED 8655812 NUP50-AS1 NUP50 antisense RNA 1 (head to head) 22 22 22 29441085 29471112 - 45529639 45559662 - 45133758 45163781 - 100506714 ABBA01007128;AMYH02038510;AMYH02038511;AMYH02038512;BC044653;HG512349;HG512350;HG512351;NR_038956;NR_038957;Z82243 Hs.189902 ncrna HGNC:50502 VALIDATED 1606410 NUP50P2 nucleoporin 50 pseudogene 2 6 6 6 p22 26367374 26369069 + 25140072 25141767 + 25139844 25141539 + 266785 ABBA01066542;AL133268;AMYH02013336;NG_002388 pseudo HGNC:29928 INFERRED 1316779 NUP214 nucleoporin 214kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. [provided by RefSeq, Jul 2008] 9 9 9 q34.1 104540049 104648175 + 134000948 134110057 + 131125561 131234670 + 1580863;6480464;6484113;7240710;8699517;8554872 10228171;10395558;10428971;10601273;10668806;11073998;11238447;11425870;11545741;11551912;11777942;12138183;12191473;12228227;12477932;12589057;12917407;14671643;14766228;15239126;15302935;15361874;1549122;16045929;16344560;16356933;16675447;16943420;17081983;17264208;17289590;17296573;17620317;18096310;18299449;18614052;18624398;18784740;18854154;18923437;19149559;19166587;19219046;19229862;19386703;19596686;19615732;19828735;20237496;20360068;20379614;20936779;20970119;21139048;21145461;21327100;21489623;21691751;21720744;22268729;22412018;22558357;22586326;22623428;22939629;23264634;23667531;2370860;23831628;23872305;24073922;24449214;24816145;25027693;7584026;7584028;7603572;7774911;8108440;8943370;9049309;9114010;9144189;9166401;9368759;9488438;9765402;9847314 8021 B7ZAV2;E9PKD2;E9PS86;H0Y837;H0YDH2;H0YDI2;H0YDS4;H0YED3;H0YF36;P35658 AA516455;AB159230;ABBA01012079;ABBA01012080;ABBA01012081;ABBA01012082;AJ420413;AK302676;AK307573;AK310406;AK310476;AK310515;AK316417;AK316435;AL157938;AL832609;AMYH02021781;AMYH02021782;AMYH02021783;AMYH02021784;BC012500;BC045620;BC105998;BM455135;BX537986;CH471090;D14689;DB062584;NG_023371;NM_005085;X64228;XM_005272216;XM_005272217;XM_005272218;XM_005272219;XM_006717292 AAH45620;AAI05999;BAA03515;BAD07398;BAG63908;BAH14788;BAH14806;CAA45535;CAD97946;EAW87960;EAW87961;EAW87962;EAW87963;NP_005076;P35658;XP_005272273;XP_005272274;XP_005272275;XP_005272276;XP_006717355 Hs.654530 1643725;1657837;1721801;2118076;2172604;5094372 G54640;G59922;RH25261;RH65743;RH68080;RH69984 CAIN;CAN;D9S46E;MGC104525;N214;p250 214 kDa nucleoporin;CAN protein, putative oncogene;OTTHUMP00000022382;OTTHUMP00000022384;OTTHUMP00000229693;nuclear pore complex protein Nup214;nucleoporin 214kD (CAIN);nucleoporin Nup214 APPROVED protein-coding ENSG00000126883 HGNC:8064 00258 114350;601626 REVIEWED 1605529 NUP43 nucleoporin 43kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008] 6 6 6 q25.1 150780717 150802949 - 150045457 150067688 - 149724315 149746572 - 6480464 10601273;11076863;11230166;12196509;12228227;12477932;14702039;15146057;15489334;15489336;16009940;16196087;16381901;17079684;17360435;17363900;18781797;20360068;20676042;21139048;21890473;21906983;21963094;22505724;22797925;22863883;22939629;23455922;24654937 348995 B4DVD1;B4E301;F5H0E3;Q8NFH3;Q8TEA6 ABBA01025674;AF514997;AJ334828;AK023349;AK074311;AK095994;AK301027;AK304244;AK304505;AL355312;AMYH02014697;BC040121;BC046637;BC047539;BC065028;BG527619;BG567254;BX647097;CB989591;DC324759;NM_198887;NR_104456;XM_005266960;XM_005266961;XM_005266962 AAH40121;AAH65028;AAM76708;BAB14536;BAB85046;BAG53192;BAG62643;BAG65112;BAG65313;CAL37556;NP_942590;Q8NFH3;XP_005267017;XP_005267018;XP_005267019 Hs.510375 1697876;2108325;2145100;2177256;5016478;5019833;5037552 A009Z40;D8S2279;G17314;G33028;GDB:434012;NUP43_8182;RH102466 FLJ13287;bA350J20.1;p42 OTTHUMP00000237248;OTTHUMP00000237249;nucleoporin Nup43;nup107-160 subcomplex subunit Nup43 APPROVED protein-coding ENSG00000120253 HGNC:21182 12174 608141 VALIDATED 732578 NUP54 nucleoporin 54kDa The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013] 4 4 4 q21.1 74336017 74369792 - 77035812 77069668 - 76114659 76148515 - 633404;6480464 8707840 10395558;10546895;10601273;10931946;11266456;12228227;12477932;14702039;15489334;16189514;16344560;16651408;17623298;19275582;19458171;20012529;2050741;20936779;21139048;21489275;21890473;21906983;21963094;21987572;22939629;23000965;23443559;24722188;24816145;7531196;8125298;8589458;9582382 53371 D6RAH0;D6RB65;D6RBF7;D6RFI8;Q7Z3B4 ABBA01063355;ABBA01063356;ABBA01063357;AC110795;AC112719;AF157322;AI580839;AK001517;AK022106;AK222752;AK223352;AK299442;AK300036;AK307571;AK315160;AL137650;AMYH02009508;AMYH02009509;BC012559;BC034226;BP420577;BX538002;CH471057;DA577078;NM_001278603;NM_017426;NR_103780;NR_103781;NR_103782;XM_006714236;XM_006714237;XM_006714238 AAF67488;AAI56686;ABM86904;ABW03846;BAA91735;BAD96472;BAD97072;BAG37604;BAG61417;BAG61847;CAB70859;CAD97957;EAX05775;EAX05776;EAX05777;NP_001265532;NP_059122;Q7Z3B4;XP_006714299;XP_006714300;XP_006714301 Hs.430435 1684948;1695898;1700496;1712278;2129109;2217682;5022578 D1S1423;G54048;NUP54_3830;R71204;RH103869;RH93766;SHGC-78854 MGC13407 54 kDa nucleoporin;OTTHUMP00000160589;OTTHUMP00000219174;nucleoporin 54kD;nucleoporin p54 APPROVED protein-coding ENSG00000138750 HGNC:17359 06352 607607 REVIEWED 1353030 NUP50P1 nucleoporin 50 pseudogene 1 14 14 14 q23.3 45121342 45126400 - 65063610 65068669 - 64596892 64601951 - 145375 ABBA01018365;AL049869;AMYH02029362;NG_002384 1682397 RH26205 NUP50P pseudo HGNC:20025 INFERRED 1322303 NUP160 nucleoporin 160kDa NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004] 11 11 11 p11.2 47947516 48018167 - 47799670 47870057 - 47778102 47848505 - 1580863;6480464;8554872 10601273;11564755;11684705;12228227;12477932;14702039;15146057;15146197;15231747;15489334;16565220;16807356;17043677;17081983;17098863;17353931;17360435;17363900;18187620;18781797;19576787;19615732;19864462;20081840;20360068;20676042;20974814;21139048;21145461;21890473;21906983;21963094;21987572;22031293;22053931;22505724;22586326;22797925;22863883;22955883;23000965;24255178;24457600;24984263;8724849 23279 E9PR16;E9PSI3;G3V198;Q12769 ABBA01060691;AC021443;AC023232;AK026236;AK302396;AK304308;AL832029;AL832813;AMYH02024741;AMYH02024742;AMYH02024743;BC008700;BC009822;BC125227;BC125228;BX647634;CH471064;D83781;NM_015231;XM_006718170 AAH08700;AAH09822;AAI25228;AAI25229;BAA12110;BAB15406;BAG63710;BAG65161;EAW67878;EAW67879;EAW67880;EAW67881;EAW67882;EAW67883;NP_056046;Q12769;XP_006718233 Hs.744107 1677540;1677562;1686264;1723641;2107449;2130280 NUP160_3793;RH118738;RH25410;RH71446;RH91838;STS-Z40067 DKFZp686M14102;MGC150678;MGC150679 160 kDa nucleoporin;OTTHUMP00000233271;OTTHUMP00000233272;OTTHUMP00000234368;nuclear pore complex protein Nup160;nucleoporin 160kD;nucleoporin Nup160 APPROVED protein-coding ENSG00000030066 HGNC:18017 16254 607614 VALIDATED 1606555 NUP62CL nucleoporin 62kDa C-terminal like This gene encodes a protein containing a domain found in nucleoporins which are glycoproteins found in nuclear pore complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] X X X q22.3 106837965 106921027 - 106366657 106449670 - 107123427 107206440 - 6480464 10737800;12477932;14702039;15489334;15772651;16189514;18029348;19322201;20360068;21832049;21906983 54830 H0Y6X7;Q5JSN5;Q9H1M0 ABBA01035861;ABBA01035862;ABBA01035863;ABBA01035864;ABBA01035865;ABBA01035866;ABBA01035867;ABBA01035868;ABBA01035869;ABBA01035870;ABBA01035871;AI702317;AK000137;AL136112;AL390039;AMYH02040210;AMYH02040211;AMYH02040212;BC016327;BC017799;BF805909;BX105515;CH471120;DB448067;NG_021315;NM_017681;NR_033676 AAH16327;AAH17799;BAA90968;EAX02718;EAX02719;EAX02720;EAX02721;NP_060151;Q9H1M0 Hs.163629 1694132;1701936;1780480;1856686;2160960 AL035123;DXS1504;DXS6972E;L77251;stbA92F23T7 FLJ20130;RP13-383K5.2 OTTHUMP00000023799;OTTHUMP00000023801;nucleoporin-62 C-terminal-like protein APPROVED protein-coding ENSG00000198088 HGNC:25960 06527 REVIEWED 1349933 NUP62 nucleoporin 62kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 47279595 47302503 - 50410082 50432988 - 49906825 49929731 - 1580863;6480464;7240710;8554872;8699517 10330396;10356400;10373430;10395558;10601273;10668806;10781837;10799545;11013214;11073998;11076863;11113176;11230166;11238447;11244088;11256614;11266456;11310559;11425870;11553620;11755531;11852044;12163599;12228227;12477932;12894213;14667819;14702039;14718703;14973189;15175862;15489334;15489336;15507209;15522285;15625236;15820316;15953362;16169070;16189514;16314397;16344560;16381901;16434389;16648475;16730000;16786527;17098863;17500061;17960595;18029348;18292223;18809582;18854154;19144712;1915414;19615732;19828735;20360068;20622012;21078624;21139048;21145461;21698267;21726808;21890473;21906983;21988832;22110128;22308026;22334672;22505724;22558357;22928108;22939629;23383273;23443559;23777819;24074597;24107630;24250222;24418548;24722188;24816145;7744965;8125298;8537436;8589458;8650207;8702753;8707840;8757804;8889548;9102465;9114010;9348540;9367915;9407313 23636 M0QX10;M0QX13;M0QX64;M0QXN5;M0QYY0;M0QZL5;M0R0B7;M0R1S1;M0R302;P37198 ABBA01032907;ABBA01032908;AC011452;AF318357;AK000829;AK125857;AK225817;AL162061;AMYH02036333;AMYH02036334;AMYH02036335;BC003663;BC014842;BC050717;BC095410;BC101104;BC101105;BC101106;BC101107;BG575286;BM672281;CB961185;CH471177;CR541721;DA438104;DA856902;DA945913;DA949331;DB076767;NG_021170;NG_023448;NM_001193357;NM_012346;NM_016553;NM_153718;NM_153719;X58521 AAH03663;AAH14842;AAH50717;AAH95410;AAI01105;AAI01106;AAI01107;AAI01108;AAL55864;ABM83517;ABM87856;BAG54257;CAA41411;CAB82399;CAG46522;CAL38660;EAW52576;EAW52577;EAW52578;EAW52579;NP_001180286;NP_036478;NP_057637;NP_714940;NP_714941;P37198 Hs.574492 1338109;1339316;1339420;1645620;1681217;1776983;1792386;1792388;2145185;5014051;5015619;5015961;5017663;5022576;5022651;5037552 D11S2921;D11S3114;D15S1477;D19S412;D19S596;D19S867;D19S998;D1S1361;D8S2278;D8S2279;NUP62;PMC150528P1;PMC150528P2;RH46521;RH71288;RH79668 DKFZp547L134;FLJ20822;FLJ43869;IBSN;MGC841;SNDI;p62 62 kDa nucleoporin;nuclear pore glycoprotein p62;nucleoporin 62kD;nucleoporin Nup62 APPROVED protein-coding ENSG00000213024 HGNC:8066 05782 271930;605815 REVIEWED 1323659 NUP85 nucleoporin 85kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP85 is part of one such subcomplex, Nup107-160. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 69793975 69824185 + 73201597 73231854 + 75205502 75235759 + 6480464 10601273;10753751;10893222;12196509;12228227;12477932;12706117;14702039;14767062;15146057;15995708;16169070;17360435;17363900;17395051;18187620;19454010;19576787;19615732;19841162;19946888;20360068;20676042;21139048;21890473;21906983;21963094;21987572;22053931;22268729;22505724;22863883;23000965;23752268;23956138;24128342;24457600;24816145;7592789 79902 B4DYG7;F5H0W7;J3KRC0;J3KS87;J3KSH3;J3KT10;J3KTC7;J3QL49;J3QL54;J3QL91;J3QLD4;J3QLH0;J3QLV0;J3QRY3;J3QS63;Q9BW27 ABBA01028809;AC022211;AF498261;AF514995;AK022611;AK124501;AK295694;AK297574;AK298519;AK302426;AL833893;AMYH02033988;BC000697;CH471099;NM_024844;XM_005257690;XM_005257692;XM_005257693;XM_006722094;XR_243683;XR_429921 AAH00697;AAM18528;AAM76706;BAB14130;BAG54043;BAG59965;BAG60723;BAG63729;BAH12158;CAD38749;EAW89251;NP_079120;Q9BW27;XP_005257747;XP_005257749;XP_005257750;XP_006722157 Hs.362817 1336870;2122635 Cda0wb11;D17S650 FLJ12549;Nup75 85 kDa nucleoporin;frount;nuclear pore complex protein Nup85;nucleoporin Nup75;nucleoporin Nup85;pericentrin 1;pericentrin-1 APPROVED protein-coding ENSG00000125450 HGNC:8734 01363 170285 REVIEWED 1344758 NUP210L nucleoporin 210kDa-like INVOLVED IN Sertoli cell development (inferred); spermatid development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cadmium atom; 1,3-dinitrobenzene (ortholog); 2,6-dinitrotoluene (ortholog) 1 1 1 q21.3 127036912 127199334 - 153965166 154127592 - 153992690 154155116 - 6480464;8554872 14702039;16710414;22053931 91181 Q5VU65;X6R6V8 ABBA01049461;ABBA01049462;ABBA01049463;ABBA01049464;ABBA01049465;ABBA01049466;ABBA01049467;ABBA01049468;ABBA01049469;ABBA01049470;ABBA01049471;ABBA01049472;ABBA01049473;ABBA01049474;ABBA01049475;AK125924;AK128000;AK128108;AL133633;AL358472;AL513546;AL590431;AL833964;AMYH02001913;AMYH02001914;AMYH02001915;AMYH02001916;AMYH02001917;AMYH02001918;BX648132;CH471121;HC007184;HC044631;NM_001159484;NM_207308;XM_006711619 BAC86345;BAC87225;BAC87279;CAB63757;CAD38812;CBH19397;CBH30645;EAW53238;NP_001152956;NP_997191;Q5VU65;XP_006711682 Hs.67639 1338358;1656001;1712759;1848183;2138890;2146834 AL009742;D1S2858;D1S3396;RH120093;RH47702;RH47717 RP11-144B19.1 OTTHUMP00000034015;nuclear pore membrane glycoprotein 210-like;nuclear pore membrane glycoprotein 210-like (LOC91181);nucleoporin Nup210-like protein-coding ENSG00000143552 HGNC:29915 14852 VALIDATED 1317159 NUP37 nucleoporin 37kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP37 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008] 12 12 12 q23.2 102131991 102176381 - 102467967 102514025 - 102074189 102120247 - 1580863;6480464;8554872 10601273;12196509;12228227;12477932;14702039;15146057;15489334;15761153;16196087;17360435;17363900;19893584;20360068;20676042;21139048;21890473;21906983;21963094;22505724;22863883;22889411;22939629;22955883;23000965 79023 F8VTY2;F8VXF5;H0YHK8;Q8NFH4 ABBA01053231;ABBA01053232;AC079907;AF514994;AK026271;AK296733;AK310619;AMYH02027078;BC000861;CH471054;NM_024057;XM_005269144 AAH00861;AAM76705;BAB15422;BAG59320;EAW97688;EAW97689;NP_076962;Q8NFH4;XP_005269201 Hs.444276 FLJ22618;MGC5585;p37 OTTHUMP00000243905;OTTHUMP00000243907;nucleoporin Nup37;nup107-160 subcomplex subunit Nup37 APPROVED protein-coding ENSG00000075188 HGNC:29929 14853 609264 PROVISIONAL 1353907 NUPL1 nucleoporin like 1 This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 13 13 13 q12.13 6939918 6980809 + 25875222 25916561 + 25301528 25342423 + 1580863;6480464 10601273;11266456;12228227;12477932;14702039;15342556;15489334;17500595;20936779;21139048;21890473;21900206;21906983;22505724;22939629;23000965;23275563;23383273;24816145;7531196;8889548;9455477 9818 F8WBZ1;F8WC35;F8WCJ8;H7BYF2;Q5JRG1;Q9BVL2 AB007870;ABBA01007900;ABBA01007901;ABBA01007902;AF113020;AK025800;AK026604;AK123955;AK302946;AK303409;AL138958;AL359556;AL590787;AL646102;AMYH02027718;AMYH02027719;AMYH02027720;BC001104;BG330006;BM976542;BP249090;CH471075;NG_033956;NM_001008564;NM_014089;XM_005266600 AAH01104;BAA23706;BAG53985;BAG64103;BAG64462;EAX08368;EAX08369;EAX08370;EAX08371;NP_001008564;NP_054808;Q9BVL2;XP_005266657 Hs.507537;Hs.718943;Hs.732064 1850952;5022450 D10S275;SHGC-36370 KIAA0410;PRO2463 OTTHUMP00000018146;OTTHUMP00000018148;OTTHUMP00000018149;OTTHUMP00000214938;OTTHUMP00000214939;nucleoporin p58/p45;nucleoporin-like protein 1 APPROVED protein-coding ENSG00000139496 HGNC:20261 06355 607615 REVIEWED 6769469 NUPL1P1 nucleoporin like 1 pseudogene 1 4 4 4 q28.1 123982958 123983893 - 126602663 126603598 - 125681508 125682443 - 100289295 ABBA01044779;AC093589;AMYH02010051;NG_022035 pseudo HGNC:44052 INFERRED 2799973 NUP50P3 nucleoporin 50 pseudogene 3 5 5 5 p14 20963874 20967495 - 20302313 20305934 - 20302204 20305825 - 266786 ABBA01054544;AC094103;AMYH02010990;NG_002389 pseudo HGNC:29927 INFERRED 6770124 NUPR1L nuclear protein, transcriptional regulator, 1-like INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); pirinixic acid (ortholog); toluene (ortholog) 7 7 7 p11.2 67235281 67237043 - 56182374 56184090 - 56114681 56116397 - 6480464 389493 A6NF83 ABBA01061853;ABBA01061854;AC006970;AMYH02015750;BC043523;NM_001145712 A6NF83;NP_001139184 Hs.177948 1676580 RH92024 nuclear transcriptional regulator 1-like protein;uncharacterized protein LOC389493 protein-coding ENSG00000185290 HGNC:44164 VALIDATED 1317328 NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) ENCODES a protein that exhibits transferase activity, transferring alkyl or aryl (other than methyl) groups (inferred); INVOLVED IN intracellular cholesterol transport; FOUND IN endoplasmic reticulum membrane; INTERACTS WITH 17beta-estradiol; afimoxifene; cobalt dichloride 6 6 6 q22.1 118739521 118774823 + 117996617 118031890 + 117675454 117710727 + 6480464 12477932;14574404;15489334;16835300;17764014;19723497;21572394;24223763;24568601;9294218 116150 Q96E22 ABBA01026034;AJ420576;AK025467;AK125119;AK126335;AK130093;AL590303;AMYH02014360;BC013026;BC063794;BC066910;BC110325;BC150654;BC150655;CH471051;NM_138459;Z98172 AAH13026;AAH63794;AAH66910;AAI10326;AAI50655;AAI50656;BAG54148;EAW48201;NP_612468;Q96E22 Hs.289008 1703648;1751017;2174239;5016877;5109757;5123438 D13S874E;G22117;RH98866;SHGC-104939;SHGC-34264;SHGC-78764 C6orf68;MGC117249;MGC7199;MGC:7199;NgBR;TANGO14 OTTHUMP00000017089;nogo-B receptor;transport and golgi organization 14 homolog protein-coding ENSG00000153989 HGNC:21042 12894 610463 VALIDATED 3340337 NUS1P1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 1 X X X p11.23 51564457 51568319 - 47369194 47373059 - 47509795 47513660 - 729148 ABBA01052371;ABBA01052372;AMYH02039285;CH471164;NG_023027;Z84466 EAW59309 pseudo HGNC:38472 INFERRED 1344412 NUPL2 nucleoporin like 2 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN carbohydrate metabolic process (inferred); cytokine-mediated signaling pathway (inferred); glucose transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 2-methylcholine; atrazine; copper(2+) sulfate 7 7 7 p15 23207732 23226916 + 23221446 23240630 + 23181827 23201011 + 1580863;6480464;8554872 10228171;10358091;10601273;10610322;11691994;12228227;12477932;12690205;15489334;15820316;16000379;16120388;18039376;19275582;19458171;19615732;19838296;20012529;20379614;20487506;20936779;21139048;21145461;21318276;22250199;23000965;24816145;9450185;9621063 11097 B4DT96;C9JYA1;F8WC66;O15504 ABBA01056700;ABBA01056701;AC005082;AI352214;AK298183;AK300113;AK312991;AMYH02015356;AMYH02015357;BC005327;BC039333;BC107583;BT007409;CH236948;CH471073;DC398445;NM_007342;U97198;XM_005249592;XM_005249593 AAC33794;AAH05327;AAH39333;AAI07584;AAP36077;BAG35828;BAG60454;BAG61908;EAL24260;EAW93775;EAW93776;EAW93777;EAW93778;EAW93779;NP_031368;O15504;XP_005249649;XP_005249650 Hs.408241 1659583;1670373;1735690;1769294;1772613;1852121;2155147;2165786;5022578;5037552 D1S1423;D7S2145E;D7S2154E;D7S2314;D8S2279;RH18376;RH46018;RH66107;SHGC-55980;STS-T90856 CG1;NLP-1;NLP_1;hCG1 H_RG271G13.9;NUP42 homolog;OTTHUMP00000122423;OTTHUMP00000202054;OTTHUMP00000202058;nucleoporin hCG1;nucleoporin-like protein 1;nucleoporin-like protein 2 protein-coding ENSG00000136243 HGNC:17010 14855 VALIDATED 3077881 NUS1P2 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 2 13 13 13 q12.12 4551926 4553811 + 23489600 23491485 + 22915461 22917346 + 646208 ABBA01068629;ABBA01068630;AL157931;AMYH02027685;NG_008458 pseudo HGNC:38473 INFERRED 733611 NUP88 nucleoporin 88kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. [provided by RefSeq, Jul 2008] 17 17 17 p13.2 5305791 5339368 - 5289346 5323400 - 5386026 5419739 - 1580863;6480464 10395558;10554006;10601273;10668806;10967423;11073820;11248054;12094380;12228227;12477932;12589057;14999780;15239126;15300515;15489334;16169070;16675447;16964243;17007055;17081983;17650673;17828493;18029348;18068677;18606815;18781797;19454010;19615732;19700630;19751906;20360068;20497554;20973273;21139048;21145461;21289091;21863385;21896994;21906983;21963094;21987572;22053931;22480613;22586326;22863883;22939629;23000965;23777819;24457600;24654937;24816145;25027693;8125298;9049309;9205132;9488438 4927 I3L245;I3L2W3;I3L4K7;J3KMX1;Q99567 ABBA01054812;ABBA01054813;ABBA01054814;AC004148;AK225247;AK298158;AK299000;AK308142;AMYH02032858;AMYH02032859;BC000335;BF594453;BI552947;BX956129;CH471108;NM_002532;XM_005256659;Y08612 AAH00335;BAG60432;BAH12922;CAA69904;EAW90340;EAW90341;EAW90342;NP_002523;Q99567;XP_005256716 Hs.584784 1663548;1694426;1720955;1733660;2114160;2158818 D15S629E;G42908;G59307;SHGC-33286;WI-12233;WI-18700 MGC8530 88 kDa nucleoporin;OTTHUMP00000125305;karyoporin;nuclear pore complex protein 88;nuclear pore complex protein Nup88;nucleoporin 88kD;nucleoporin Nup88 APPROVED protein-coding ENSG00000108559 HGNC:8067 03974 602552 REVIEWED 3102882 NUS1P4 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 4 13 13 13 q32.2 80106568 80107158 - 99262555 99263145 - 98610301 98610891 - 100130167 ABBA01027137;AL356423;AMYH02028578;NG_021964 pseudo HGNC:38474 INFERRED 736958 NUPR1 nuclear protein, transcriptional regulator, 1 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN cell growth; FOUND IN cytoplasm; nucleus; INTERACTS WITH 1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile; 1-naphthyl isothiocyanate; 17beta-estradiol 16 16 16 p11.2 27653286 27655119 + 28548662 28550495 - 28537341 28539174 - 6480464 10092851;10493524;10493829;11940591;12174869;12477932;15342556;15489334;15781258;15854263;16101158;16294328;16300740;16478804;16628001;17016631;17101797;17116693;18690848;19153668;19650074;19723804;19915574;19942374;19946894;20181828;20335521;20890585;21344397;21988832;22493353;22565310;22821859;22858377;22899799;22938721;22961798;23047430;23128233;23443904;24205110;24497499;9405444 26471 H3BS92;O60356 ABBA01043648;AC002425;AC020765;AF069073;AF069074;AF135266;AK312135;AMYH02031793;BC002434;BF965595;BP214401;BT006896;CH471279;CR542144;NM_001042483;NM_012385 AAC05335;AAC05336;AAC19384;AAC19385;AAD49221;AAH02434;AAP35542;BAG35071;CAG46941;EAW52274;EAW52275;EAW52276;NP_001035948;NP_036517;O60356 Hs.513463 1672959;2124857 D16S3305;L17828 COM1;P8 OTTHUMP00000162567;candidate of metastasis 1;nuclear protein 1 protein-coding HGNC:29990 17814 614812 VALIDATED 1345837 NUTF2 nuclear transport factor 2 The protein encoded by this gene is a cytosolic factor that facilitates protein transport into the nucleus. It interacts with the nuclear pore complex glycoprotein p62. This encoded protein acts at a relative late stage of nuclear protein import, subsequent to the initial docking of nuclear import ligand at the nuclear envelope. It is thought to be part of a multicomponent system of cytosolic factors that assemble at the pore complex during nuclear import. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52389231 52413631 + 67880819 67906470 + 67846916 67872567 + 6480464 10228171;10679025;11129791;11310559;12477932;15489334;15522285;16169070;16449645;18029348;18266911;19060906;19060911;19322201;19369352;19404486;20639865;20805321;21139048;21195711;21890473;21906983;21963094;22053931;22505724;22880006;22939629;23000965;3380696;7458421;7744965;8707840;8757804;9102465;9368653;9533885;9562972;9822603 10204 H3BRV9;P61970 ABBA01025462;ABBA01025463;AC040162;AK293739;AK311822;AMYH02032244;BC002348;BC033653;CH471092;CR456937;NM_005796;U43939;X07315;XM_005255771 AAA85905;AAH02348;ACE86456;ACE87137;BAG34764;BAG57163;CAA30278;CAG33218;EAW83181;EAW83182;NP_005787;P61970;XP_005255828 Hs.356630 1779782;2108847;2135204 NUTF2_9060;SHGC-153756;SHGC-31645 NTF-2;NTF2;PP15 OTTHUMP00000174844;placental protein 15 APPROVED protein-coding HGNC:13722 12050 605813 REVIEWED 1343027 NUTF2P2 nuclear transport factor 2 pseudogene 2 14 14 14 q13.2 16152830 16153681 + 36288964 36289815 + 35819758 35820609 + 326613 ABBA01061510;AL162311;AMYH02029015;NG_002603 pseudo HGNC:19934 INFERRED 1323029 NUP93 nucleoporin 93kDa ENCODES a protein that exhibits structural constituent of nuclear pore; INVOLVED IN nuclear pore complex assembly; FOUND IN membrane; nuclear membrane; nuclear periphery; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; cobalt dichloride 16 16 16 q13 41261349 41377957 + 56764017 56882637 + 56730105 56848725 + 6480464 10601273;10668806;12228227;12477932;12802065;14702039;15009096;15229283;15489334;16196087;16286466;16344560;16600873;17353931;18457437;19322201;19454010;19471022;19615732;19738201;19946888;20031564;20085707;20360068;20562859;21081666;21139048;21145461;21150319;21252943;21415862;21875946;21890473;21906983;21963094;22053931;22268729;22505724;22586326;22623428;22751105;22780124;22939629;22990118;23000965;23277564;23667531;23752268;23798571;23824909;23956138;24457600;24816145;25027693;7788527;9348540;9531546 9688 H3BM93;H3BMX0;H3BNG7;H3BNN5;H3BP72;H3BP95;H3BPA9;H3BRD9;H3BRI8;H3BV11;H3BV15;H3BVE2;H3BVG0;Q8N1F7 ABBA01025250;ABBA01025251;AC012181;AC106779;AC127456;AF086282;AK056637;AK125165;AK292262;AK294176;AMYH02032093;AMYH02032094;AX306779;BC034346;CH471092;D42085;DA495676;DA531475;DA587787;NM_001242795;NM_001242796;NM_014669;XM_005256263 AAH34346;BAA07680;BAF84951;BAG51770;BAH11689;CAD19063;EAW82887;NP_001229724;NP_001229725;NP_055484;Q8N1F7;XP_005256320 Hs.276878 1676818;1703266;1705812;2125743;2182397;2191377;5091998 MARC_17957-17958:1024499204:3;RH25323;RH65675;SHGC-24014;SHGC-35816;SHGC-58086;SHGC-79844 KIAA0095;MGC21106;NIC96 93 kDa nucleoporin;OTTHUMP00000164379;nuclear pore complex protein Nup93;nucleoporin Nup93 protein-coding ENSG00000102900 HGNC:28958 14854 614351 VALIDATED 1313993 NUSAP1 nucleolar and spindle associated protein 1 NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009] 15 15 15 q15.1 18392903 18441220 + 41624892 41673248 + 41332694 41381050 + 6480464 12477932;12963707;14702039;16196087;16344560;17643375;18029348;19322201;20053754;20360068;21139048;21782797;21832049;21963094;22101338;22349817;22863883;22939629;23128233;23405241;24250222;24816145;8125298 51203 H0YKA7;H0YM18;H0YMD2;Q9BXS6 ABBA01038412;ABBA01038413;ABBA01038414;ABBA01038415;AC087721;AF090915;AF217513;AF290612;AF305711;AK023483;AK222819;AK225703;AK290879;AK293168;AK307728;AL833611;AMYH02030268;AX399976;BC001308;BC010838;BC011008;BC012887;BC024772;BG259258;CH471125;DB046574;DB047195;NM_001243142;NM_001243143;NM_001243144;NM_001301136;NM_016359;NM_018454;XM_005254428;XM_005254429;XM_005254430;XM_005254431;XM_006720559;XM_006720560;XM_006720561;XM_006720562;XM_006720563 AAF24034;AAF67624;AAG25874;AAH01308;AAH10838;AAH12887;AAH24772;AAK28023;ABM82514;ABM85708;BAB14586;BAD96539;BAF83568;BAG56712;CAD33420;EAW92482;EAW92483;EAW92484;EAW92485;EAW92486;NP_001230071;NP_001230072;NP_001230073;NP_001288065;NP_057443;NP_060924;Q9BXS6;XP_005254485;XP_005254486;XP_005254487;XP_005254488;XP_006720622;XP_006720623;XP_006720624;XP_006720625;XP_006720626 Hs.615092 2148605;2166483;5021876;5116974 A005D47;SGC35140;ha1547;ha3102 ANKT;BM037;FLJ13421;LNP;PRO0310p1;Q0310;SAPL NUSAP;nucleolar and spindle-associated protein 1;nucleolar protein ANKT APPROVED protein-coding ENSG00000137804 HGNC:18538 612818 VALIDATED 8655313 NUTF2P4 nuclear transport factor 2 pseudogene 4 1 1 1 p13.2 111521412 111521792 + 113290717 113291097 + 112748095 112748475 + 18821565 128322 AL603832;AMYH02001748;XM_003960108;XM_060943 XP_003960157;XP_060943 protein-coding HGNC:50453 MODEL 8655426 NUTF2P6 nuclear transport factor 2 pseudogene 6 15 15 15 q14 12334065 12334448 + 35574797 35575168 + 35282596 35282967 + 100131623 ABBA01038506;AC107992;AMYH02030189;NG_030233 pseudo HGNC:50455 INFERRED 8655386 NUTF2P7 nuclear transport factor 2 pseudogene 7 X X X q13.1 70590246 70590623 - 70236381 70236755 - 71016531 71016905 - 100287868 ABBA01067651;AL590764;AMYH02039669;NG_030158 pseudo HGNC:50458 INFERRED 8655373 NUTF2P8 nuclear transport factor 2 pseudogene 8 2 2 2 p24.1 21424113 21426334 - 21584771 21586992 - 21361899 21364120 - 100287183 ABBA01045083;AC011752;AMYH02003380;NG_021496 pseudo HGNC:50457 INFERRED 1605553 NUTM1 NUT midline carcinoma, family member 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH silicon dioxide; methotrexate (ortholog) 15 15 15 q14 11440706 11454967 + 34635458 34649936 + 34343315 34357737 + 6480464;8554872 12477932;12543779;15994877;16344560;17934517;18391746;19550370;20676058;20871268;21652721;22301500;22425924;22777717;23128391;23701453;25015289 256646 Q86Y26 ABBA01038535;ABBA01038536;ABBA01038537;ABBA01038538;AC021822;AC025678;AF482429;AK098568;AK302656;AK302680;AL137416;AMYH02030160;AMYH02030161;AMYH02030162;BC033392;BC114518;BC114567;CH471125;DB082726;HC007186;HC044713;NM_001284292;NM_001284293;NM_175741 AAI14519;AAI14568;AAO39268;BAC05337;BAG63912;BAH13770;CAB70729;CBH19398;CBH30686;EAW92304;EAW92305;NP_001271221;NP_001271222;NP_786883;Q86Y26 Hs.525769 C15orf55;DKFZp434O192;FAM22H;MGC138683;MGC138684;NUT NUT family member 1;nuclear protein in testis APPROVED protein-coding ENSG00000184507 HGNC:29919 10606 608963 VALIDATED 1346368 NUTM2B NUT family member 2B 10 10 q22.3 81460192 81472722 + 79700464 79712757 + 16713569 729262 A6NNL0 AL132656;AMYH02023404;HY013942;NM_001278495;XM_005270135 A6NNL0;NP_001265424;XP_005270192 Hs.742755 FAM22B;bA119F19.1 family with sequence similarity 22, member B APPROVED protein-coding ENSG00000188199 HGNC:23445 VALIDATED 8699294 NUTM2B-AS1 NUTM2B antisense RNA 1 10 10 q22.3 81445911 81568599 - 79765789 79825700 - 14702039;15146197;16712791 101060691 AK091744;AL132656;AL135925;AMYH02023404;AMYH02023405;AMYH02023406;AMYH02023407;AMYH02023408;AMYH02023409;AMYH02023410;AMYH02023411;BQ425131;BQ774387;CA312311;CB163469;CN279211;CN279213;HG503066;HG503072;HG503073;HG503074;HG503075;HG503076;NR_120611;NR_120612;NR_120613;XR_252774;XR_424137;XR_428771;XR_428772;XR_432605;XR_432606 Hs.440648 ncrna HGNC:51204 VALIDATED 7241733 NUTM2A-AS1 NUTM2A antisense RNA 1 INTERACTS WITH (+)-catechin 10 10 10 q23.2 75047672 75047991 + 88998424 89102315 - 87238667 87342558 - 16344560 728190 ABBA01015527;AI832214;AK309777;AK311174;AL157893;AMYH02023493;AMYH02023494;AMYH02023495;AMYH02023496;AMYH02023497;AMYH02023498;AMYH02023499;AMYH02023500;BC047063;BE856553;DB257428;HG503106;HG503108;HG503109;HG503110;HG503116;NR_024397 Hs.647195 1666976;1717525;2143547;2157034;5015961;5022322;5023317;5037552;5124426 D11S2560;D15S1477;D8S2279;RH124027;RH46980;RH92130;SHGC-34792;WI-11484;WI-22196 FAM22A-AS1;RP11-322M19.1 APPROVED ncrna ENSG00000223482 HGNC:45161 VALIDATED 1353494 NUTM2E NUT family member 2E 10 10 q22.3 81601114 81610632 + 79841358 79850876 + 12477932 283008 B1AL46;R4GNA6 AL135925;AMYH02023411;NG_012781 B1AL46 FAM22E APPROVED pseudo HGNC:23448 16878 INFERRED 1602054 NUTM2A NUT family member 2A 10 10 10 q23.2 77 841 - 88983616 88995645 + 87223859 87234980 + 12477932;21139048 728118 Q8IVF1 AL157893;AMYH02023493;BC033231;BC092519;EG328792;NM_001099338;XM_005270111 NP_001092808;Q8IVF1;XP_005270168 Hs.710565 5124899 RH92280 FAM22A OTTHUMP00000020023;family with sequence similarity 22, member A;hypothetical protein LOC728118 APPROVED protein-coding ENSG00000184923 HGNC:23438 VALIDATED 1351697 NUTM2G NUT family member 2G ASSOCIATED WITH Melanoma (inferred) 9 9 9 q22.33 316 4072 - 99691286 99704572 + 96929004 96942290 + 8554872 15164053 441457 Q5VZR2 AL158827;AMYH02021303;NM_001045477;NM_001170741 NP_001038942;NP_001164212;Q5VZR2 Hs.652383 2176353 STS-N33264 FAM22G;NUTMG OTTHUMP00000021736;OTTHUMP00000021737;family with sequence similarity 22, member G;family with sequence similarity 22, pseudogene;hypothetical protein LOC441457 APPROVED protein-coding ENSG00000188152 HGNC:23449 VALIDATED 1342942 NUTM2F NUT family member 2F INTERACTS WITH bisphenol A 9 9 9 q22.32 323 4069 - 97080478 97090926 - 94318196 94328644 - 6480464 12477932 54754 A1L443;E2QRH1 ABBA01007201;AL133071;AL691447;AMYH02021257;BC130390;BC143798;NM_017561;XM_006717148 A1L443;AAI30391;AAI43799;ADR83260;CAB61394;NP_060031;XP_006717211 Hs.648183 2176353 STS-N33264 DKFZp434I1117;FAM22F;MGC163262;NUTMF OTTHUMP00000021689;family with sequence similarity 22, member F;hypothetical protein LOC54754 APPROVED protein-coding ENSG00000130950 HGNC:23450 VALIDATED 7206930 NUTM2HP NUT family member 2H, pseudogene 10 10 10 q11.23 75592632 75601138 + 52436303 52445570 + 50676543 50685810 + 729023 AL589794;AMYH02023055;NG_028755 FAM22HP;NUTMHP APPROVED pseudo HGNC:45017 INFERRED 733793 NUP98 nucleoporin 98kDa Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which is comprised of approximately 50 unique proteins collectively known as nucleoporins. The 98 kDa nucleoporin is generated through a biogenesis pathway that involves synthesis and proteolytic cleavage of a 186 kDa precursor protein. This cleavage results in the 98 kDa nucleoporin as well as a 96 kDa nucleoporin, both of which are localized to the nucleoplasmic side of the NPC. Rat studies show that the 98 kDa nucleoporin functions as one of several docking site nucleoporins of transport substrates. The human gene has been shown to fuse to several genes following chromosome translocations in acute myelogenous leukemia (AML) and T-cell acute lymphocytic leukemia (T-ALL). This gene is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, May 2010] 11 11 11 p15.5 3701320 3824093 - 3696240 3819022 - 3675010 3797792 - 1580863;737758;6480464;8554872 12461755 10087256;10209021;10556215;10601273;10668806;10875935;11073998;11106761;11238447;11248057;11352911;11493482;11551912;11564755;11684705;11782354;11809937;11830496;11839768;11950939;11986249;12082612;12112533;12138901;12191480;12228227;12477932;12589057;12802065;12931227;12970787;14517296;14554087;14561764;14718558;14966272;14968112;15146057;15161980;15207818;15229283;15302935;15359631;15454493;15489334;15629720;15681849;15725483;15851029;15951287;16286466;16314397;16344560;16479161;16565220;16651408;16861351;16964243;17081983;17172455;17178874;17287853;17304248;17353931;17360435;17442773;17589499;17650673;18045934;18084320;18287282;18388181;18566322;18604245;18832153;18854154;19000832;19149559;19240061;19454010;19460752;19615732;19665070;19696924;19745842;19789179;19828735;20237156;20339440;20360068;20498086;20547757;20554795;20558618;20676042;20861915;20935257;20936779;21139048;21327100;21328509;21335236;21423673;21467841;21813447;21890473;21906983;21930948;21948299;21963094;21987572;22058212;22103895;22110128;22113938;22268729;22412018;22480613;22505724;22509482;22586326;22613470;22863883;22928108;22929522;22945772;22990118;23000965;23028327;23102701;23246429;23427268;23468646;23523133;23531517;23541576;23752268;23934736;23958061;23999921;24051001;24371226;24457600;24816145;24927547;25027693;25036637;7736573;8563753;8563754;8707840;8943370;9114010;9144189;9166830;9275187;9348540;9368759;9847314;9858599 4928 E9PNN0;H0YCR0;H0YCT1;H0YDA1;H0YDF4;H0YEN4;H7BYP8;H7C3P6;J3KP29;P52948 AB038344;AB040538;ABBA01032050;ABBA01032051;AC060812;AC090587;AF071076;AF071077;AF116074;AF231130;AK292882;AK301512;AL133601;AL137613;AMYH02024226;AMYH02024227;AMYH02024228;AMYH02024229;AMYH02024230;AMYH02024231;AMYH02024232;BC012906;BC041136;BG773331;BT007349;CH471158;DB084013;NM_005387;NM_016320;NM_139131;NM_139132;U41815;XM_005252950;XM_006718240;XM_006718241;XM_006718242;XR_428845 AAC50366;AAD22395;AAD22396;AAF19342;AAH12906;AAH41136;AAL56659;AAP36013;BAB11850;BAB18537;BAF85571;BAG63020;CAB63736;CAB70842;EAX02561;EAX02562;EAX02563;EAX02564;EAX02565;EAX02566;NP_005378;NP_057404;NP_624357;NP_624358;P52948;XP_005253007;XP_006718303;XP_006718304;XP_006718305 Hs.524750 1340361;1644173;1660262;1683122;1721451;1731539;1738013;1752721;1759621;1772360;2150111 D11S1254;D11S1883;D11S3624;G29170;G30118;G59577;RH18062;RH48599;RH81020;SHGC-106541;SHGC-150849 ADIR2;NUP196;NUP96 GLFG-repeat containing nucleoporin;Nup98-Nup96;OTTHUMP00000013622;OTTHUMP00000013819;OTTHUMP00000013953;OTTHUMP00000013954;OTTHUMP00000234880;nuclear pore complex protein Nup98-Nup96;nucleoporin 98;nucleoporin 98kD APPROVED protein-coding ENSG00000110713 HGNC:8068 03012 601021 REVIEWED 1344165 NUTM2D NUT family member 2D 10 10 q23.2 89117477 89130452 + 87357720 87370695 + 15164054 728130 Q5VT03;U3KPT3 AB095940;AL645612;AMYH02023500;NR_075100 BAC23116;Q5VT03 Hs.701044;Hs.710565 FAM22D;KIAA2020 OTTHUMP00000020024;hypothetical protein LOC728130 APPROVED pseudo ENSG00000214562 HGNC:23447 VALIDATED 3466382 NUS1P3 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 3 INTERACTS WITH ethyl methanesulfonate; isotretinoin; methyl methanesulfonate 13 13 13 q12 5964516 5968929 + 24901846 24906246 + 24327708 24332108 + 6480464 9294218 11049 ABBA01007889;AL359736;AMYH02027705;NG_006509;U82319 AAB72234 Hs.525826 YDD19 pseudo HGNC:30934 INFERRED 1603203 NWD2 NACHT and WD repeat domain containing 2 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH trichostatin A; valproic acid 4 4 4 p14 37686844 37890948 + 37246690 37451087 + 37245068 37449465 + 6480464;8554872 10574462;20379614;9847074 57495 Q9ULI1 AB033065;ABBA01074301;ABBA01074302;AC022463;AC104690;AC107400;AMYH02009027;NM_001144990 BAA86553;NP_001138462;Q9ULI1 Hs.4280 1644554;1645811;1646668;1654640;1663391;1665317;1685838;1707832;1765129;1780170;1785094;1785096;2133567;2135700;2135702;2143191;2149161;2170623;2170657 D4S1067;D4S2711;D4S596;D4S756;G34392;SHGC-148650;SHGC-154542;SHGC-155096;SHGC-155097;SHGC-19222;SHGC-34520;SHGC-50282;SHGC-50334;SHGC-59605;SHGC-67692;SHGC-82145;SHGC-8606;STS-D59406;STS-D60378 KIAA1239 NACHT and WD repeat domain-containing protein 2;OTTHUMP00000211519;hypothetical protein LOC57495;leucine-rich repeat and WD repeat-containing protein KIAA1239 APPROVED protein-coding ENSG00000174145 HGNC:29229 VALIDATED 1604179 NWD1 NACHT and WD repeat domain containing 1 ENCODES a protein that exhibits ATP binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); dibutyl phthalate (ortholog); valproic acid (ortholog) 19 19 19 p13.11 16732646 16830313 + 16830787 16928774 + 16719976 16817963 + 6480464;8554872 12477932;14702039;20379614;8889548 284434 E5RJJ1;F8W0U9;Q149M9 AA535500;ABBA01051160;ABBA01051161;ABBA01051162;ABBA01051163;ABBA01051164;ABBA01051165;ABBA01051166;ABBA01051167;ABBA01051168;ABBA01051169;ABBA01051170;ABBA01051171;AC008737;AK026798;AK090685;AMYH02035687;AMYH02035688;BC117698;BU685952;BX648940;CR749794;NM_001007525;NM_001290355 AAI17699;CAH18655;NP_001007526;NP_001277284;Q149M9 Hs.406014 2160287;5015404;5016478;5024413;5037552 D19S1171;D8S2279;GDB:434012;L17705;L17877 MGC134940 NACHT and WD repeat domain-containing protein 1;OTTHUMP00000226863;OTTHUMP00000240837;OTTHUMP00000240838 protein-coding ENSG00000188039 HGNC:27619 17337 VALIDATED 1603388 NXF4 nuclear RNA export factor 4 pseudogene INTERACTS WITH cadmium atom X X X q22 102243524 102265252 + 101804893 101826621 + 102549965 102571693 + 6480464 11073998;11566096 55999 Q6ZVD3 ABBA01020946;ABBA01020947;ABBA01020948;AK124700;AL035551;AMYH02040160;AMYH02040161;CH471190;NR_002216 BAC85929;EAW54735 Hs.454283 FLJ42710 pseudo ENSG00000196970 HGNC:8074 300318 VALIDATED 1354288 NXF3 nuclear RNA export factor 3 This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA. It is located in the nucleoplasm but is not associated with either the nuclear envelope or the nucleolus. [provided by RefSeq, Jul 2008] X X X q22 102769795 102787069 - 102330749 102348022 - 103075821 103093094 - 1580863;6907045;6480464 11073998;11545741;11566096;12477932;14702039;15489334;16189514;17978099;18029348;19060904;22379092 56000 B4DYS7;H0Y6A1;Q9H4D5 ABBA01021005;ABBA01021006;ABBA01021007;AF346619;AJ277527;AJ277660;AK057086;AK302447;AK302586;AMYH02040165;AMYH02040166;BC031616;CH471190;NG_012572;NM_022052;Z75746 AAH31616;AAL07564;ABM82245;ABM85429;BAG63743;BAG63839;CAC16589;CAC20434;EAW54722;NP_071335;Q9H4D5 Hs.60386 1683629;1698864;1769052 RH102997;RH66164;RH79750 TAPL-3 OTTHUMP00000023726;OTTHUMP00000023727;TAP-like protein 3 APPROVED protein-coding ENSG00000147206 HGNC:8073 02261 300316 REVIEWED 737301 NXF1 nuclear RNA export factor 1 This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 11 11 11 q12-q13 59888182 59901548 - 62559597 62572964 - 62792124 62805492 - 1580863;6480464;6907045;8554872 10202158;10228171;10323864;10454577;10668806;10924507;11060011;11073998;11256625;11259411;11546873;11546874;11551912;11566096;11583626;11707413;11724776;11854490;11875519;12093754;12384575;12477932;12581645;14702039;14730019;14963046;15184380;15210956;15358174;15489334;15767397;16014633;16189514;16314397;16341674;16344560;16713569;16971948;17001072;17036044;17333237;17609285;17978099;18337511;18670889;18854154;19019956;19165146;19369354;19586903;19836239;19924249;20015986;20020773;20071484;20360068;21060739;21139048;21145461;21252943;21299467;21613532;21725067;21822283;21890473;21965294;21988832;22113938;22505724;22586326;22797925;22893130;22939629;23826332;24457600;24478440;24816145;25027693;7707528;9166830;9175835;9660949;9933612 10482 B4E227;E9PIN3;E9PLA7;E9PMV7;E9PQA4;H0YDU0;Q59E96;Q9UBU9 AB209915;ABBA01003246;AF112880;AF126246;AJ132712;AK027192;AK304082;AK304137;AK304743;AK307961;AK307998;AMYH02024899;AP001160;AV750251;AW005685;BC004904;BC017421;BC028041;BM751313;CH471076;CR749674;DB141140;NM_001081491;NM_006362;U80073;XM_006718418;XM_006718419;XM_006718420 AAB81111;AAD20016;AAD39102;AAH04904;AAH28041;ABM83857;ABM87179;BAD93152;BAG64989;BAG65031;BAG65502;CAA10753;CAH18465;EAW74103;EAW74104;EAW74105;EAW74106;EAW74107;NP_001074960;NP_006353;Q9UBU9;XP_006718481;XP_006718482;XP_006718483 Hs.523739;Hs.601546 1651216;1682377;1725831;1774944;1847697;2129935;2174446;2174448;2184994;5022649 A002C37;D11S2875;G19937;G62080;RH16408;RH46572;RH80822;SHGC-31800;STS-U26648;WI-19608 DKFZp667O0311;MEX67;TAP OTTHUMP00000236352;OTTHUMP00000236353;mRNA export factor TAP;nuclear rna export factor 1 homolog (s. cerevisiae);tip associating protein;tip-associated protein;tip-associating protein APPROVED protein-coding ENSG00000162231 HGNC:8071 04035 602647 REVIEWED 1346108 NXF5 nuclear RNA export factor 5 This gene is one member of a family of nuclear RNA export factor genes. The encoded protein can bind RNA, and is implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo. [provided by RefSeq, Jul 2009] X X X q22 101607687 101633150 - 101087085 101112549 - 101832112 101857577 - 1580863;6480464;6907045;8554872 11073998;11566096;12477932;12784308;14759258;17978099;18029348;19377476;23686279 55998 Q9H1B4 ABBA01045028;ABBA01045029;AJ277654;AJ277655;AJ277656;AJ277657;AJ277658;AL672207;AMYH02040070;BC131708;CH471115;KF510611;NG_009851;NM_032946;NR_028089;XM_005262165;XM_005262166;XM_005262167;Z70228;Z70758 AAI31709;CAC20428;CAC20429;CAC20430;CAC20431;CAC20432;CAI42475;CAI42476;CAI42477;CAI42478;EAX02892;EAX02893;EAX02894;EAX02895;EAX02896;NP_116564;Q9H1B4;XP_005262222;XP_005262223;XP_005262224 Hs.307077 5107161 G65767 TAPL-1 OTTHUMP00000023698;OTTHUMP00000023699;OTTHUMP00000023701;OTTHUMP00000023702;OTTHUMP00000217639;TAP-like protein 1 APPROVED protein-coding ENSG00000126952 HGNC:8075 02263 300319 REVIEWED 8656086 NXNP1 nucleoredoxin pseudogene 1 1 1 1 q41 192271389 192281950 - 219015464 219073261 - 218842122 218899919 - 100130251 ABBA01048100;ABBA01048101;AC097060;AMYH02002720;AMYH02002721;NG_028320 pseudo HGNC:50561 INFERRED 1351751 NXNL2 nucleoredoxin-like 2 INVOLVED IN photoreceptor cell maintenance (inferred); sensory perception of smell (inferred); visual perception (inferred); INTERACTS WITH 17beta-estradiol; genistein; paracetamol 9 9 9 q22.1 61726247 61766931 + 91149203 91190704 + 88534288 88575789 + 737633;6480464 12477932 15164053;15489334;17764561;18854154;20949100 158046 Q5VZ03 ABBA01016519;ABBA01016520;ABBA01016521;AL162729;AL592486;AMYH02021181;BC022521;BI517442;CH471089;NM_001161625;NM_145283;XM_005251726;XM_005251727;XM_006716963 AAH22521;ADZ15991;EAW62756;NP_001155097;NP_660326;Q5VZ03;XP_005251783;XP_005251784;XP_006717026 Hs.734507 1731795 D9S297 C9orf121;RDCVF2 OTTHUMP00000161664;nucleoredoxin-like protein 2;rod-derived cone viability factor 2 protein-coding ENSG00000130045 HGNC:30482 12938 615299 VALIDATED 1350601 NXNL1 nucleoredoxin-like 1 INVOLVED IN photoreceptor cell maintenance (inferred); FOUND IN membrane (inferred); mitochondrion (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.11 17467985 17473494 - 17566234 17571725 - 17455425 17460916 - 737633;1580863;6480464 12477932 15220920;17207965;17249548;17286855;18474255;19402160;19843539;20949100;21044950;21079812 115861 Q96CM4 ABBA01051203;ABBA01051204;AC010319;AMYH02035708;BC014127;CH471106;DQ426894;NM_138454 AAH14127;ABD90545;ADQ33150;EAW84608;NP_612463;Q96CM4 Hs.661836 RDCVF;TXNL6 nucleoredoxin-like protein 1;rod-derived cone viability factor;thioredoxin-like 6;thioredoxin-like protein 6 protein-coding ENSG00000171773 HGNC:25179 12300 608791 PROVISIONAL 1349773 NXPE2 neurexophilin and PC-esterase domain family, member 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); arsane (ortholog); arsenic atom (ortholog) 11 11 11 q23.3 111702152 111730583 + 114549200 114579357 + 114678478 114707076 + 6480464 12477932 120406 Q96DL1 ABBA01039768;AK057953;AMYH02025603;AP002774;BC111797;CH471065;NM_182495;XM_006718766 AAI48386;AAI56725;BAB71621;EAW67255;NP_872301;Q96DL1;XP_006718829 Hs.446760 1757213;2143026;5016478;5020740 C95580;GDB:434012;L17809;SHGC-144632 FAM55B;FLJ25224 NXPE family member 2;OTTHUMP00000238524;family with sequence similarity 55, member B;hypothetical protein LOC120406 APPROVED protein-coding ENSG00000204361 HGNC:26331 08055 VALIDATED 1344828 NXF2 nuclear RNA export factor 2 This gene encodes a member of a family of nuclear RNA export proteins. The encoded protein is associated with the nuclear envelope and aids in the export of mRNAs. There is a closely related paralog of this gene located adjacent on chromosome X and on the opposite strand. [provided by RefSeq, Aug 2013] X X X q22.1 102062334 102165364 - 101502094 101581634 + 102247100 102326720 + 1580863;6480464;6907045 11073998;11279525;11566096;12477932;12704671;14702039;15489334;15772651;16014633;16382448;17403691;17548835;17978099;18029348;18258234;19401350;20096387;21832049;22016418;22030050 56001 Q9GZY0 ABBA01045059;ABBA01045060;ABBA01045061;ABBA01045062;ABBA01045063;ABBA01045064;AC234791;AF285596;AJ277659;AK000423;AK303069;AK308255;AL356322;AMYH02040115;AMYH02040116;AMYH02040117;BC015020;NM_022053;XM_006710259;Z70226;Z70689;Z81367 AAH15020;AAK31975;ABM82066;ABM85245;BAA91154;BAG64186;CAC20433;CAI41980;CAI42026;CAI42027;NP_071336;Q5H9J9;Q9GZY0;XP_006710322 Hs.530358;Hs.648337;Hs.737538 1699850;5107161 G65767;RH103532 CT39;FLJ20416;NXF2B;TAPL-2;TCP11X2 OTTHUMP00000023710;OTTHUMP00000023711;OTTHUMP00000023712;TAP like protein 2;TAP-like protein 2;cancer/testis antigen 39;t-complex protein 11 homolog APPROVED protein-coding ENSG00000269405 HGNC:8072 02260 300315 REVIEWED 1321419 NXN nucleoredoxin ENCODES a protein that exhibits protein-disulfide reductase activity (inferred); thioredoxin-disulfide reductase activity (inferred); INVOLVED IN cardiovascular system development (ortholog); negative regulation of protein ubiquitination (ortholog); negative regulation of Wnt signaling pathway (ortholog); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene; bisphenol A 17 17 17 p13.3 714726 894595 - 702553 883017 - 799313 979775 - 1580863;6480464 10737800;10903915;12477932;14702039;16764867;17353931;17567240;19308021;19322201;19615732;21139048;21251912;21890473;21906983;22566634;23000965;23300278;23535732;9119370 64359 B4DNN6;I3L4V6;Q6DKJ4 ABBA01054619;ABBA01054620;ABBA01054621;ABBA01054622;ABBA01054623;ABBA01054624;ABBA01054625;ABBA01054626;ABBA01054627;ABBA01054628;AC015884;AC036164;AC087392;AF086523;AK022676;AK027451;AK297990;AK302073;AMYH02032722;AMYH02032723;AMYH02032724;AMYH02032725;AW752727;AY189690;BC009327;BC063828;BC073845;BC104634;BU856030;CH471108;CX786695;NM_001205319;NM_022463;XM_005256756;XM_005256757;XM_005256758 AAH09327;AAH63828;AAH73845;AAI04635;AAI52723;AAI53026;AAO85223;BAB14171;BAB55122;BAG60298;BAG63462;EAW90639;EAW90640;EAW90641;NP_001192248;NP_071908;Q6DKJ4;XP_005256813;XP_005256814;XP_005256815 Hs.527989 1340616;1658226;1666984;1721695;1762737;1779748;2120740;2137861;5015605;5015619;5037552 D11S2977;D11S3114;D17S2008;D17S663;D17S695;D8S2279;G59710;RH47611;SHGC-146526;SHGC-153726;SHGC-33249 FLJ12614;NRX;TRG-4 OTTHUMP00000115356;nucleoredoxin 1 protein-coding ENSG00000167693 HGNC:18008 14858 612895 VALIDATED 1348429 NXPE3 neurexophilin and PC-esterase domain family, member 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; cobalt dichloride; copper(2+) sulfate 3 3 3 q12.3 99891428 99940459 + 101498029 101547075 + 101779185 101828231 + 737633;6480464;8554872 12477932 12975309;14702039;16344560;21832049 91775 C9K0A9;Q969Y0 ABBA01061767;AC020651;AC084198;AF173890;AK054664;AK289689;AMYH02007317;AMYH02007318;AY358207;BC009431;BQ014992;CH471052;DA213047;NM_001134456;NM_145037 AAH09431;AAQ13637;AAQ88574;ABM87416;ABW03881;BAB70787;BAF82378;EAW79774;EAW79775;NP_001127928;NP_659474;Q969Y0 Hs.595933 1658551;1663809;1670462;1764113;2176993;5015961;5016596;5022651;5109281 D11S2921;D15S1477;D1S1425;G16618;GDB:631802;RH65845;SGC32483;SHGC-147762;SHGC-77168 FAM55C;FLJ30102;MGC15606;MST115;MSTP115 NXPE family member 3;OTTHUMP00000214282;OTTHUMP00000214283;OTTHUMP00000214284;family with sequence similarity 55, member C;hypothetical protein LOC91775 APPROVED protein-coding ENSG00000144815 HGNC:28238 10073 VALIDATED 1626558 NXF2B nuclear RNA export factor 2B ENCODES a protein that exhibits nucleotide binding (inferred); INVOLVED IN multicellular organismal development (ortholog); RNA transport (ortholog); PARTICIPATES IN mRNA decay pathway; ribosome biogenesis pathway; FOUND IN cytoplasm (ortholog); nucleus (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); mono(2-ethylhexyl) phthalate (ortholog); paracetamol (ortholog) X X X q22.1 102062334 102165364 - 101615316 101694929 - 102360395 102440008 - 6907045;6480464 10567585;11073998;11279525;11566096;12704671;14702039;15489334;15772651;16382448;18029348 728343 Q5JRM6;Q9GZY0 ABBA01020939;ABBA01020940;AC235565;AF285596;AJ277659;AK000423;AK303069;AK308255;AL590069;AMYH02040084;AMYH02040085;AMYH02040086;AMYH02040087;AMYH02040088;AMYH02040089;AMYH02040090;AMYH02040091;AMYH02040092;AMYH02040093;AMYH02040094;AMYH02040095;AMYH02040096;AMYH02040097;AMYH02040098;AMYH02040099;AMYH02040100;AMYH02040101;AMYH02040102;AMYH02040103;AMYH02040104;AMYH02040105;AMYH02040106;AMYH02040107;BC015020;CH471190;NM_001099686 AAH15020;AAK31975;B4DZS4;BAA91154;BAG64186;CAC20433;CAD13494;CAI40394;CAI40395;EAW54741;NP_001093156;Q9GZY0 Hs.530358;Hs.648337;Hs.737538 1699850;1702486;2145134;5107161 AF020177;G65767;RH103532;sWXD3381 CT39;DKFZp686N2036;FLJ20416;FLJ54838;FLJ98203;NXF2;TAPL-2;TCP11X1;bA353J17.1 OTTHUMP00000024327;OTTHUMP00000024328;OTTHUMP00000024330;TAP-like protein 2;cancer/testis antigen 39;nuclear RNA export factor 2;nuclear RNA export factor 2-like protein-coding ENSG00000269437 HGNC:23984 VALIDATED 1352335 NXPE1 neurexophilin and PC-esterase domain family, member 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); arsane (ortholog) 11 11 11 q23.2 111545452 111583563 - 114392423 114430580 - 114521715 114559895 - 737633;6480464;8554872 12477932 21297633;23128233 120400 F5H0Y6;F5H259;F5H6W7;G3V1T0;Q8N323 ABBA01039770;AC020549;AI347274;AMYH02025602;BC029049;BC037844;BX648601;CH471065;CR747187;EF444977;NM_152315;XM_006718765 AAH29049;ABM81780;ABM84934;ACA05991;EAW67251;EAW67252;NP_689528;Q8N323;XP_006718828 Hs.721328 FAM55A;MGC34290 NXPE family member 1;OTTHUMP00000238511;family with sequence similarity 55, member A;hypothetical protein LOC120400;protein FAM55A APPROVED protein-coding ENSG00000095110 HGNC:28527 13315 VALIDATED 1350536 NXPE4 neurexophilin and PC-esterase domain family, member 4 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH cadmium atom; paracetamol; pirinixic acid 11 11 11 q23.2 111594297 111619464 - 114441313 114466484 - 114570591 114595762 - 6480464;8554872 12975309;14702039;15375555;16344560;19199708;20056006;20379614;23128233;23455922;8125298 54827 Q6UWF7 ABBA01039769;ABBA01039770;AC020549;AK000134;AK225236;AMYH02025602;AY358805;AY547307;CH471065;DA428771;NM_001077639;NM_017678;XM_006718865 AAQ89165;AAS55888;BAA90965;EAW67253;EAW67254;NP_001071107;NP_060148;Q6UWF7;XP_006718928 Hs.179100 1680363 RH98691 C11orf33;FAM55D;FLJ20127 NXPE family member 4;OTTHUMP00000238522;OTTHUMP00000238523;family with sequence similarity 55, member D;hypothetical protein LOC54827 APPROVED protein-coding ENSG00000137634 HGNC:23117 12607 VALIDATED 1344701 NXPH2 neurexophilin 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; methylmercury chloride; valproic acid 2 2 2 q22.1 133138346 133249419 - 139426727 139537811 - 138669157 138780241 - 1580863;6480464;8554872 12477932;15489334;19478329;21956439;8699246;9570794 11249 O95156;Q494R3 AB162675;ABBA01028119;ABBA01028120;ABBA01028121;ABBA01028122;AC092620;AC092837;AC110421;AF043467;AMYH02004876;AMYH02004877;BC101461;BC101462;BC101463;BC104741;NM_007226 AAD02280;AAI01462;AAI01463;AAI01464;AAI04742;BAD11132;NP_009157;O95156 Hs.435019 2137361 D2S2688 MGC125477;MGC125478;MGC125479;MGC125480;NPH2 OTTHUMP00000204222;neurexophilin-2 protein-coding HGNC:8076 11983 604635 VALIDATED 5488829 NXT1P1 NTF2-like export factor 1 pseudogene 1 13 13 39743769 39744087 - 39169632 39169950 - 100652801 ABBA01021315;AL354809;AMYH02027897;NG_030242 pseudo HGNC:39708 INFERRED 1319614 NXT1 nuclear transport factor 2-like export factor 1 The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p12-p11.2 23404748 23408783 + 23331373 23335408 + 23350736 23354771 + 1580863;6480464;6907045 10228171;10567585;10848583;11073998;11149927;11256625;11259602;11566096;11583626;11739738;11756420;11780052;12477932;12483225;15489334;16189514;16314397;17978099;19060904;21139048;21906983;21988832;22939629;23251661;24250222 29107 Q9UKK6 ABBA01016176;AF156957;AK026360;AL096677;AMYH02036833;BC000759;BC002687;BC003029;BC003410;CH471133;NM_013248 AAD54942;AAH00759;AAH02687;AAH03029;AAH03410;EAX10163;NP_037380;Q9UKK6 Hs.516933 1337641;1652809;1694450;2109593 D20S871;G42938;NXT1_9580;RH12210 MTR2;P15 NTF2-like export factor 1;NTF2-related export protein 1;NTX2-like export factor1;NUTF-like export factor 1;OTTHUMP00000030420 APPROVED protein-coding ENSG00000132661 HGNC:15913 16159 605811 REVIEWED 736634 NXPH4 neurexophilin 4 FOUND IN extracellular region (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine; potassium chromate 12 12 12 q13.3 57272891 57274464 + 57610578 57620232 + 57216795 57226449 + 1580863;6480464 12477932;12975309;14702039;15489334;17207965;9570794 11247 G3V5C5;O95158 ABBA01026707;AC137834;AF043469;AK094231;AK290949;AMYH02026578;AY358614;BC036679;BC053581;BU633375;NM_007224 AAD02282;AAH36679;AAH53581;AAQ88977;ADQ32554;BAF83638;NP_009155;O95158 Hs.745023 1690586 RH99132 NPH4 OTTHUMP00000245527;neurexophilin-4 protein-coding ENSG00000182379 HGNC:8078 06866 604637 VALIDATED 1350653 NXT2 nuclear transport factor 2-like export factor 2 The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011] X X X q23 109258641 109267544 + 108779010 108787927 + 109535781 109544698 + 1580863;6480464;6907045 11042152;11073998;12477932;14702039;15489334;15772651;16189514;16344560;19322201;21832049;21890473;23602568 55916 Q9NPJ8 AA806876;ABBA01043495;ABBA01043496;AF201942;AF212223;AF246127;AJ277591;AJ278323;AK023289;AL031387;AMYH02040225;BC014888;BC120984;BC120985;CH471120;CS300605;DA442845;NG_029691;NM_001242617;NM_001242618;NM_018698 AAF78034;AAF86878;AAF87325;AAI20985;AAI20986;BAB14511;CAB96371;CAC01129;CAK32269;EAX02677;EAX02678;EAX02679;EAX02680;NP_001229546;NP_001229547;NP_061168;Q9NPJ8 Hs.25010 1769897;2119902;2152682 A004W13;AL008956;RH11287 P15-2 NTF2-related export protein 2;OTTHUMP00000023840;OTTHUMP00000023841;OTTHUMP00000023842;OTTHUMP00000023843 APPROVED protein-coding ENSG00000101888 HGNC:18151 02264 300320 REVIEWED 1602420 NYAP1 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 INVOLVED IN neuron projection morphogenesis (ortholog); phosphatidylinositol 3-kinase signaling (ortholog); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 q22.1 94811349 94822221 + 100081550 100092425 + 100483869 100494802 + 6480464;8554872 12477932;12690205;14702039;21145461;21946561 222950 C9JS30;Q6ZVC0 AA737804;ABBA01013207;AC069281;AC092849;AK094857;AK124773;AMYH02016380;AY375450;BC041433;CH236956;CH471091;NM_173564;XM_005250228;XM_006715907;XM_006715908 AAQ83634;BAC04437;BAC85942;EAL23830;EAW76526;NP_775835;Q6ZVC0;XP_005250285;XP_006715970;XP_006715971 Hs.320086 C7orf51;FLJ37538;KIAA1486L OTTHUMP00000207679;OTTHUMP00000207732;hypothetical protein FLJ37538;neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1;uncharacterized protein C7orf51 APPROVED protein-coding ENSG00000166924 HGNC:22009 13427 615477 VALIDATED 1348812 NYS2 nystagmus 2, congenital autosomal dominant ASSOCIATED WITH Nystagmus 2, congenital, autosomal dominant (inferred) 7240710 5504065;8414024 4933 1339486;1340495 D6S271;D6S455 HGNC:8080 164100 1345252 NYNRIN NYN domain and retroviral integrase containing ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN DNA integration (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin 14 14 14 q12 4732635 4753130 + 24867992 24888494 + 24398786 24419288 + 1580863;6480464;8554872 10718198;12477932;14702039;16713569;17114934;19561090;20686565;21139048;22505724;24097068;24255178 57523 Q9P2P1 AB037726;ABBA01061344;ABBA01061345;AK021873;AL132800;AMYH02028880;BC008219;BC065283;BX248773;NM_025081 AAH08219;AAH65283;BAA92543;BAB13925;CAD66580;NP_079357;Q9P2P1 Hs.288348 1668824;1754923;2115211 IB2324;RH66363;SHGC-141849 CGIN1;FLJ11811;KIAA1305 Cousin of GIN1;NYN domain and retroviral integrase catalytic domain-containing protein;OTTHUMP00000245804 APPROVED protein-coding ENSG00000205978 HGNC:20165 VALIDATED 2311477 NYAP2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 INVOLVED IN neuron projection morphogenesis (ortholog); phosphatidylinositol 3-kinase signaling (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH silicon dioxide 2 2 2 q36.3 220034911 220288003 + 226264426 226518734 + 225399710 225654018 + 6480464;8554872 10819331;12477932;14702039;16344560;20379614;20889853;21946561;23307926 57624 Q9P242 AB040919;ABBA01023753;ABBA01023754;ABBA01023755;ABBA01023756;ABBA01050206;AC016717;AC019231;AC067961;AC106890;AK055226;AMYH02005898;AMYH02005899;AMYH02005900;BC131727;DA230522;HG495269;NM_020864;XM_005246708 AAI31728;BAA96010;BAB70880;NP_065915;Q9P242;XP_005246765 Hs.224409 1341538;1685764;1701518;1705274;1710590;1722905;1750635;1757457;1783940;2111065;2133656;5037552 1674;D2S2204;D2S238E;D8S2279;G60547;RH104392;RH91890;SHGC-111947;SHGC-112014;SHGC-144834;SHGC-78590;SHGC-83961 AC067961.1;KIAA1486 OTTHUMP00000203934;hypothetical protein LOC57624;neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2;uncharacterized protein KIAA1486 APPROVED protein-coding ENSG00000144460 HGNC:29291 615478 VALIDATED 1344117 NYS3 nystagmus 3, congenital autosomal dominant ASSOCIATED WITH Nystagmus 3, congenital, autosomal dominant (inferred) 7240710 9806847 4934 HGNC:8081 608345 1349581 NYS4 nystagmus 4, congenital autosomal dominant ASSOCIATED WITH Nystagmus 4, congenital, autosomal dominant (inferred) 7240710 317685 7186320 D13S159 HGNC:19188 193003 1351006 OA3 ocular albinism 3 (autosomal recessive) 1632442 4936 1298099 D7S2846 HGNC:8084 6901233 OACYLP O-acyltransferase like, pseudogene This gene is ancient and exists in archaea, bacteria, fungi, worms, flies, and mammals. The gene has been inactivated by mutation and is nonfunctional in humans and chimpanzees. [provided by RefSeq, Oct 2008] 18 18 18 q21.32 53420835 53438311 + 56702971 56720446 + 59035739 59053214 + 16344560;18085818;20210993 390858 ABBA01056162;AC040963;AMYH02034821;AMYH02034822;DV080257;NR_024021 Hs.722775 1730547;1731759;1731763 D18S529;D18S531;D18S95 ACYL3P pseudo HGNC:44362 PROVISIONAL 1342665 OAP osteoarthrosis, precocious 4937 1336419;1655428 D11S1358;D11S35 HGNC:8085 1602422 OAF OAF homolog (Drosophila) FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 11 11 11 q23.3 117239997 117258863 + 120081747 120100650 + 120211039 120229941 + 6480464 12477932;17207965 220323 E9PJ29;Q86UD1 ABBA01039660;AMYH02025676;AP000679;AY459296;BC008339;BC047726;CH471065;CS208007;HB867192;KF510362;NM_178507;XM_006718787 AAH47726;AAR23238;ADQ33078;CAJ44929;CBF57582;EAW67502;NP_848602;Q86UD1;XP_006718850 Hs.445081 1676496;1723065;1736692;1768141;1769881;1773217;2180975;2182028 D1S2077E;RH121884;RH93764;SHGC-57364;STS-D20864;STS-H80295;WI-17120;WI-21512 MGC52117;NS5ATP13TP2 HCV NS5A-transactivated protein 13 target protein 2;OTTHUMP00000231985;OTTHUMP00000231986;out at first protein homolog protein-coding HGNC:28752 17646 PROVISIONAL 1317992 OARD1 O-acyl-ADP-ribose deacylase 1 ENCODES a protein that exhibits deacetylase activity; purine nucleoside binding; INVOLVED IN purine nucleoside metabolic process; INTERACTS WITH cobalt dichloride; coumestrol; ethyl methanesulfonate 6 6 6 p21.1 42587212 42592869 - 41034526 41040207 - 41066792 41072449 - 6480464 12477932;14574404;15489334;21139048;21832049;21849506;22505724;22863883;23000965;23481255;24250222 221443 C9IZY1;C9J5P1;C9JA90;C9JNE2;C9JXC3;H7C5Q1;Q05CR9;Q9Y530 ABBA01050760;AJ420538;AK290939;AK310688;AK313361;AL031778;AMYH02013601;BC011709;BC021579;CH471081;NM_145063 AAH11709;AAH21579;BAF83628;BAG36161;EAX04010;EAX04011;EAX04012;NP_659500;Q9Y530 Hs.227457 1654697;1673203;2142851 G31080;RH47657;RH48345 C6orf130;FLJ17636;MGC19570;TARG1;dJ34B21.3 O-acetyl-ADP-ribose deacetylase 1;O-acetyl-ADP-ribose deacetylase C6orf130;O-acetyl-ADP-ribose deacetylase C6orf130 homolog;OTTHUMP00000016364;OTTHUMP00000216761;OTTHUMP00000216762;OTTHUMP00000216763;OTTHUMP00000216765;OTTHUMP00000216766;OTTHUMP00000216771;OTTHUMP00000216772;hypothetical protein LOC221443;terminal ADP-ribose protein glycohydrolase 1 APPROVED protein-coding ENSG00000124596 HGNC:21257 12849 614393 PROVISIONAL 1345660 OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Mutations in this gene have been associated with host susceptibility to viral infection. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 12 12 12 q24.2 112971828 112984801 + 113344739 113357712 + 112906934 112919907 + 1580863;6480464;6907045;7240710 10464285;11092454;11682059;11980899;11986302;12082089;12447867;12477932;12799444;12944978;14702039;15489334;15732009;15766558;15850793;15855350;15865429;15893726;16014697;16235172;1651324;16541075;16644715;16712791;16824203;1708818;17092260;17360168;17963609;18029348;18931074;19203244;19247438;19434718;19462904;19515215;19559055;19575500;19665006;19799013;19923450;19956105;20079393;20309637;20588308;20628624;20679634;21050126;21182542;21450824;21638280;21735172;21935451;21988832;22709583;22710942;23011799;23149075;23196181;23220500;23319625;23337612;23455924;23529855;23575436;2411547;2416561;2426799;2440675;2456211;2830497;3121313;3175763;3753689;3754863;6348777;8125298;9407111;9790745 4938 B4DWE7;C6EMZ7;F8VPW7;F8VUC8;F8VXY3;H0YI20;H0YIB8;P00973;S4R3A5 A14571;A14573;ABBA01019941;AC004551;AJ629455;AK123528;AK223006;AK225384;AK291003;AK300346;AK301498;AMYH02027232;AY730627;AY730628;BC000562;BC061587;BC071981;BE048946;BF055326;BT006785;CB112445;CH471054;D00068;DQ445949;DQ473588;HI179068;HI179070;HI179072;M11809;M11810;M18099;NG_011530;NM_001032409;NM_002534;NM_016816;X02661;X02874;X02875;X04371;X06560;X07179;XM_006719434 AAA59955;AAB59552;AAB59553;AAH00562;AAH61587;AAH71981;AAP35431;AAW63049;AAW63050;ABE27977;ABE27978;ABM82818;ABM86005;BAA00047;BAD96726;BAF83692;BAG62090;BAG63009;CAA01166;CAA01167;CAA26497;CAA26633;CAA26634;CAA29803;CAA30164;CAB51602;CAF33358;CBX53842;CBX53843;CBX53844;EAW98019;EAW98020;EAW98021;EAW98022;EAW98023;NP_001027581;NP_002525;NP_058132;P00973;XP_006719497 Hs.524760 1651147;1671367;1722617;1774109;1847709;2138000;2155282;2219222 D12S1960;D12S2019;G12116;G60392;OAS1__6098;RH11156;RH17491;RK787_788 E18/E16;IFI-4;OIAS (2-5')oligo(A) synthase 1;(2-5')oligo(A) synthetase 1;2',5'-oligo A synthetase 1;2',5'-oligoadenylate synthetase 1, 40/46kDa;2'-5' oligoadenylate synthetase 1 p48 isoform;2'-5' oligoadenylate synthetase 1 p52 isoform;2'-5'-oligoadenylate synthase 1;2'-5'-oligoadenylate synthetase 1;2'-5'-oligoisoadenylate synthetase 1;2-5A synthase 1;2-5A synthetase 1;OIASI;OTTHUMP00000242101;OTTHUMP00000242103;OTTHUMP00000242104;OTTHUMP00000242106;OTTHUMP00000242107;OTTHUMP00000242109;p46/p42 OAS APPROVED protein-coding ENSG00000089127 HGNC:8086 08879 164350;222100 REVIEWED 737134 NXPH1 neurexophilin 1 This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008] 7 7 7 p22 8443733 8762700 + 8473585 8792593 + 8433955 8752963 + 6480464;8554872 12141453;12477932;12690205;12853948;12880961;14702039;15489334;17207965;18464913;18762592;20080650;20100581;20379614;20732627;20877300;21628410;21734401;22890011;22930747;23251661;23544013;24041540;8699246;9570794;9856994 30010 B4DJV1;C9JE46;C9JPD0;P58417;Q3LID8 AA575925;AB047362;AB073665;ABBA01056530;ABBA01056531;ABBA01056532;ABBA01056533;AC004457;AC004613;AC004861;AK091655;AK095624;AK296248;AK315141;AMYH02015208;AMYH02015209;BC047505;BX107562;CH236948;CH471073;KF458368;KF458369;NM_152745 AAH47505;ADQ32481;BAB69044;BAC03713;BAE45730;BAG37590;BAG53094;BAG58963;EAL24301;EAW93621;EAW93622;EAW93623;NP_689958;P58417 Hs.487564 1338741;1664784;1671129;1691394;1718423;1747943;1758983;1766787;1853871;2143608;2149739;2219214;5094871 A008B12;D7S1927;D7S641;G42094;G66886;GDB:1317448;GDB:1318533;NXPH1;NXPH1__6090;RH122413;SHGC-151106;SHGC-152103;WI-22423 NPH1;Nbla00697 OTTHUMP00000200862;OTTHUMP00000200863;OTTHUMP00000200864;neurexophilin-1 APPROVED protein-coding ENSG00000122584 HGNC:20693 06867 604639 REVIEWED 1348906 OAS2 2'-5'-oligoadenylate synthetase 2, 69/71kDa This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 12 12 12 q24.2 113043310 113076547 + 113416274 113449528 + 112978469 113011723 + 1580863;6480464;6907045 10464285;11092454;11682059;12447867;12477932;15489334;1577824;16014697;16541075;1708818;19559055;19853919;19923450;19946888;20588308;21050126;21832049;21906983;2211721;22589738;23149075;23337612;24328427;2440675;2470369;24816145;25015289;3350819;8259037;9521856;9790745;9880569 4939 F8VPI5;F8W1C5;P29728;Q7Z6D0 ABBA01019942;AC004551;AF074990;AK292796;AK292906;AMYH02027232;AMYH02027233;BC010625;BC023637;BC049215;BC053870;BC069052;BE885222;BQ213828;CH471054;M87284;M87434;NG_029692;NM_001032731;NM_002535;NM_016817 AAA60606;AAA60607;AAH10625;AAH23637;AAH49215;AAH53870;AAH69052;BAF85485;BAF85595;EAW98026;EAW98027;NP_001027903;NP_002526;NP_058197;P29728 Hs.414332 1661157;1661375;1768985;1853867;2111119;2142196;2143623;5491537 D12S1888;D12S1895;D12S282E;G12115;G12118;MARC_17379-17380:1021990470:1;RH1608;RH70019 MGC78578 (2'-5')oligo(A) synthetase 2;(2-5')oligo(A) synthase 2;(2-5')oligo(A) synthetase 2;2'-5'-oligoadenylate synthase 2;2'5' oligoadenylate synthetase 2;2-5A synthase 2;2-5A synthetase 2;OTTHUMP00000242125;OTTHUMP00000242132;OTTHUMP00000242133;p69 OAS / p71 OAS;p69OAS / p71OAS APPROVED protein-coding ENSG00000111335 HGNC:8087 04518 603350 REVIEWED 1346146 OASD ocular albinism and sensorineural deafness ASSOCIATED WITH Albinism ocular late onset sensorineural deafness (inferred) 7240710 4941 HGNC:8089 300650 1347854 OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008] 12 12 12 q24.2 113003302 113038091 + 113376249 113411056 + 112938444 112973251 + 1580863;6480464;6907045;8554872 11112351;11280764;12447867;12477932;16014697;16541075;1708818;17408844;19056102;19559055;19667218;19923450;20588308;20628624;21050126;21270382;21903422;21909109;22505724;22939629;23149075;23196181;23337612;2440675;25027693;9346316;9790745;9880533 4940 F8VS35;F8VWK9;H0YHL3;Q9Y6K5 AB044545;ABBA01019941;AC004551;AF063613;AF251351;AK000608;AK292949;AMYH02027232;BC012015;BC113746;BG390192;BG765554;BM474470;BU558279;BU860096;CH471054;HC085308;HC195039;JB626512;KF455724;NM_006187;W47620;XM_005253889 AAD28543;AAI13747;BAB18647;BAF85638;CBI67637;CBI70412;CDI30182;EAW98024;EAW98025;NP_006178;Q9Y6K5;XP_005253946 Hs.528634;Hs.744211 1793842;5037552 D8S2279;PMC299790P2 MGC133260;p100 (2-5')oligo(A) synthase 3;(2-5')oligo(A) synthetase 3;2'-5'-oligoadenylate synthase 3;2'-5'oligoadenylate synthetase p100;2-5A synthase 3;2-5A synthetase 3;OTTHUMP00000242115;p100 OAS;p100OAS APPROVED protein-coding ENSG00000111331 HGNC:8088 04519 603351 REVIEWED 1352092 OATL2 ornithine aminotransferase-like 2 4944 HGNC:8093 1350886 NYX nyctalopin The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008] X X X p11.4 45447487 45475680 + 41306713 41334905 + 41447460 41475652 + 1601021;1580863;6480464;7240710;8554872;8699517 11062471 11062472;12397430;12477932;12506099;12552565;14507859;15331616;15489334;15761389;15772651;16553780;16670814;17392683;18617546;20301423;20801516;21832182;22735794;23289809;23406521;23714322;2574143;9418727 60506 Q9GZU5 ABBA01046665;ABBA01046666;ABBA01046667;ABBA01046668;ABBA01046669;AF254868;AJ278865;AMYH02039210;AMYH02039211;AMYH02039212;AMYH02039213;BC112242;CH471141;NG_009112;NM_022567;XM_005272632;Z93015 AAG42685;AAI12243;ADR83370;CAC19014;EAW59399;EAW59400;EAW59401;NP_072089;Q9GZU5;XP_005272689 Hs.302019 1335684;1784426 DXS8012;SHGC-132042 CLRP;CSNB1;CSNB1A;CSNB4;MGC138447;NBM1 OTTHUMP00000023145;OTTHUMP00000023146;leucine-rich repeat protein APPROVED protein-coding ENSG00000188937 HGNC:8082 02232 300278;310500 REVIEWED 1344408 OATP1 ornithine aminotransferase pseudogene 1 10 10 10 q26 119904600 119905059 - 126132353 126132812 - 124443784 124444243 - 8406505 4945 ABBA01034143;AL445237;AMYH02023976;NG_001169;S65768 2149417 STS-R45649 OATL3 APPROVED pseudo HGNC:8094 INFERRED 735663 NXPH3 neurexophilin 3 ENCODES a protein that exhibits receptor binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH diazinon; hydralazine; paracetamol 17 17 17 q21.33 44108295 44116169 + 47653298 47661172 + 49575936 49583810 + 1580863;6480464;8554872 10574461;12477932;12975309;15340161;15489334;17474147;21145461;21900206;7566098;8699246;9570794;9856994 11248 D6RGW2;O95157 AA325150;AB032985;ABBA01041208;AC006487;AF043468;AK308928;AL834282;AMYH02033577;AY358526;BC022541;CH471109;NM_007225 AAD02281;AAH22541;AAQ88890;BAA86473;CAD38956;EAW94676;NP_009156;O95157 Hs.55069 1675822;1681446;2109591;2123657 NXPH3_9244;RH93253;RH93316;SHGC-30928 NPH3 OTTHUMP00000220316;neurexophilin-3 protein-coding HGNC:8077 06865 604636 VALIDATED 1347463 OAZ3 ornithine decarboxylase antizyme 3 The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamine in cells. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis pathway; thus, completing the auto-regulatory circuit. This gene encodes antizyme 3, the third member of the antizyme family. Like antizymes 1 and 2, antizyme 3 inhibits ODC activity and polyamine uptake, however, it does not stimulate ODC degradation. Also, while antizymes 1 and 2 have broad tissue distribution, expression of antizyme 3 is restricted to haploid germ cells in testis, suggesting a distinct role for this antizyme in spermiogenesis. Antizyme 3 gene knockout studies in mice showed that homozygous mutant male mice were infertile, and indicated the likely role of this antizyme in the formation of a rigid connection between the sperm head and tail during spermatogenesis. Alternatively spliced transcript variants encoding different isoforms, including one resulting from the use of non-AUG (CUG) translation initiation codon, have been found for this gene. [provided by RefSeq, Aug 2014] 1 1 1 q21.3 124850058 124858481 + 151735445 151743806 + 151762969 151771330 + 1580863;6480464;7244195 21849468 10781034;10781085;11438941;12477932;14702039;15355308;15642376;16542438;17207965;17900240;18062773 51686 H0Y7Y4;J3QLT2;Q5SZR7;Q9UMX2 ABBA01049404;AF175296;AK125876;AL589765;AMYH02001888;AY713300;BC073949;BC128558;BC128559;BI830988;CH471121;KF455026;NM_001134939;NM_001301371;NM_016178 AAD51734;AAH73949;ADQ31982;EAW53413;EAW53414;NP_001128411;NP_001288300;NP_057262;Q9UMX2 Hs.713789 5113269 RH92576 AZ3;OAZ-t;TISP15 ODC-Az 3;OTTHUMP00000015258;antizyme 3 APPROVED protein-coding ENSG00000143450 HGNC:8097 18670 605138 REVIEWED 1322636 NVL nuclear VCP-like This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011] 1 1 1 q41-q42.2 197605972 197708808 - 224415036 224517891 - 224227334 224330189 - 1580863;6480464;6907045;8554872 10737800;12429849;12477932;12927788;15342556;15469983;15489334;16169070;16782053;18029348;19471022;19851296;19946888;20198315;21042317;21139048;21145461;21474449;21890473;21900206;21963094;22226966;22586326;24816145;8889548;9286697 4931 B4DF43;C9J6P7;C9JP83;E7ERY0;E7EWK7;E9PGD8;E9PH71;F8WF01;H0Y8B6;O15381 ABBA01009699;ABBA01009700;ABBA01009701;ABBA01009702;ABBA01009703;ABBA01009704;ABBA01009705;ABBA01009706;ABBA01009707;AC092809;AF401208;AK293923;AK297070;AK297396;AK298244;AK298826;AMYH02002772;AMYH02002773;AW997091;BC005897;BC012105;BP284587;BQ883523;BU683548;CH471098;NG_029641;NM_001243146;NM_001243147;NM_002533;NM_206840;U68140;U78772;XM_006711772;XM_006711773;XM_006711774;XM_006711775;XM_006711776;XM_006711777;XM_006711778 AAB70457;AAB70460;AAH05897;AAH12105;AAL02167;ADZ16067;BAG57304;BAG59590;BAG59836;BAG60510;BAG60956;EAW69714;EAW69715;EAW69716;NP_001230075;NP_001230076;NP_002524;NP_996671;O15381;XP_006711835;XP_006711836;XP_006711837;XP_006711838;XP_006711839;XP_006711840;XP_006711841 Hs.497867 1340367;1651074;1710750;2145698;5015619;5022200 AFM249yg9;D11S3114;D1S2763;L18426;SHGC-52483;SHGC-84009 NVLp OTTHUMP00000035641;OTTHUMP00000216593;OTTHUMP00000216594;OTTHUMP00000216599;OTTHUMP00000216600;nuclear VCP-like protein;nuclear valosin-containing protein-like APPROVED protein-coding ENSG00000143748 HGNC:8070 03887 602426 REVIEWED 1350711 OAT ornithine aminotransferase This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010] 10 10 10 q26 119858073 119879754 - 126085872 126107545 - 124397303 124418976 - 1600292;1580863;6480464;6907045;7240710;8554872;8699517 3339136 12477932;15489334;16096275;1612597;16169070;1618792;16713569;1682785;17314511;17353931;1737786;17623298;17676665;19615732;20186120;20602615;20877624;21081666;21139048;21319273;21890473;21900206;21906983;22182799;22268729;22304920;22586326;22674428;22939629;22989455;23076989;23125841;2363680;2373169;23798571;24082780;24429551;24816145;25027693;2507357;2793865;3170546;3375240;3456579;3596985;3754226;3816496;6462326;7668253;7887415;7932736;9309222;9514741;9878407 4942 P04181;Q59HE2 AB208817;ABBA01034142;AK296032;AK312561;AK315947;AL445237;AMYH02023973;AMYH02023974;AMYH02023975;BC000964;BC016928;CH471066;CR457045;CR749808;DB459793;M12267;M14963;M23204;M29927;M88760;NG_008861;NM_000274;NM_001171814;R37569;S66418;S66421;XM_006717871;Y07511 AAA36386;AAA59956;AAA59957;AAA59958;AAA59959;AAB20297;AAB20298;AAH00964;AAH16928;ADZ15368;BAD92054;BAG35458;BAH12241;BAH14318;CAA68809;CAG33326;CAH18668;EAW49271;EAW49272;NP_000265;NP_001165285;P04181;XP_006717934 Hs.523332 1339713;1656748;1745911;2185119;5022578;5037552 D10S1656;D1S1423;D8S2279;GDB:682523;RH1578;RH17677 DKFZp781A11155;GACR;HOGA;OKT OATASE;OTTHUMP00000020690;gyrate atrophy;ornithine aminotransferase, mitochondrial;ornithine delta-aminotransferase;ornithine--oxo-acid aminotransferase;ornithine-delta-aminotransferase;ornithine-oxo-acid aminotransferase APPROVED protein-coding ENSG00000065154 HGNC:8091 02021 258870;613349 REVIEWED 6481028 OBSCN-IT1 OBSCN intronic transcript 1 (non-protein coding) 100874316 AL353593 miscrna HGNC:41941 1347589 OBP2B odorant binding protein 2B INVOLVED IN chemosensory behavior (inferred); transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH copper(2+) sulfate; fonofos; parathion 9 9 9 q34 106622026 106625988 - 136080666 136084714 - 133205279 133209250 - 1580863;6480464;8554872 10607840;12044155;12477932;12975309;15164053;15489334;19850743;23267103;3388043 29989 C9J395;Q9NPH6 ABBA01032468;AI251747;AJ251025;AJ251026;AJ251027;AJ251028;AL732364;AL772161;AMYH02021824;AW513637;AX083544;AX451327;AY358981;BC096717;BC098125;BC098151;BC098340;BX101545;CH471090;HY046406;NM_001288987;NM_014581;NR_110242;NR_110243;XM_006717086 AAH96717;AAH98125;AAH98151;AAH98340;AAQ89340;CAB71322;CAB71323;CAB71324;CAB71325;CAC33326;CAD37778;EAW88048;EAW88049;EAW88050;EAW88051;EAW88052;NP_001275916;NP_055396;Q9NPH6;XP_006717149 Hs.449629 LCN14;MGC119022;OBPIIb;hOBPIIb OTTHUMP00000022463;OTTHUMP00000022464;odorant-binding protein 2b;odorant-binding protein IIb protein-coding ENSG00000171102 HGNC:23381 05209 604606 VALIDATED 1344089 OBP2A odorant binding protein 2A This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 9 9 9 q34 108955036 108958682 + 138437885 138441815 + 135546139 135549969 + 1580863;6480464 10607840;11058764;12044155;12379593;12477932;15489334;16461020;16546182;23267103 29991 F2Z2D7;F5H159;Q5T8A4;Q5T8A5;Q9NY56 ABBA01030037;AI219510;AJ251021;AJ251022;AJ251023;AJ251024;AJ251029;AL161452;AM087898;AMYH02021871;BC069563;BC143803;CH471090;NG_029693;NM_001293189;NM_001293193;NM_014582;NR_120603;XM_006717087 AAH69563;AAI43804;CAB71318;CAB71319;CAB71320;CAB71321;CAB71326;CAJ32623;EAW88158;EAW88159;EAW88160;EAW88161;EAW88162;NP_001280118;NP_001280122;NP_055397;Q9NY56;XP_006717150 Hs.567489 LCN13;OBP;OBP2C;OBPIIa;hOBPIIa OTTHUMP00000022541;OTTHUMP00000022542;OTTHUMP00000022543;OTTHUMP00000022544;OTTHUMP00000237792;OTTHUMP00000237793;odorant-binding protein 2a;odorant-binding protein IIa;putative odorant-binding protein 2c APPROVED protein-coding ENSG00000122136 HGNC:23380 01253 164320 REVIEWED 1313785 OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009] 10 10 10 q24.33 99377215 99418065 - 105637316 105678045 - 103870302 103918287 - 737633;1580863;6480464 12477932 14702039;15164054;15489334;16189514;16385451;16751776;17207965;17903301;18029348;19119139;19648609;19854130;20133760;20421499;21139048;21460842;21832049;21906983;22763445;22797925;22863775;22964711;23001564;23142664;23535734;23583980;24722188;8125298 79991 Q9H668 ABBA01063090;AK026212;AK057720;AL133355;AMYH02023731;AMYH02023732;BC017400;CH471066;NM_024928;XM_006717976;XM_006717977 AAH17400;ADQ32696;BAB15396;EAW49619;EAW49620;NP_079204;Q9H668;XP_006718039;XP_006718040 Hs.62314 1645310;1698996;1716523;1726449;2126715;2133764 G62604;RH103069;RH121547;SHGC-57644;SHGC-58247;WI-14778 AAF-44;AAF44;FLJ22559;RP11-541N10.2;RPA-32;STN1;bA541N10.2 CST complex subunit STN1;OTTHUMP00000020417;OTTHUMP00000020418;alpha accessory factor 44;oligonucleotide/oligosaccharide-binding fold-containing protein 1;replication protein A 32 kDa subunit;suppressor of cdc thirteen homolog APPROVED protein-coding HGNC:26200 14872 613128 VALIDATED 733111 OAZ1 ornithine decarboxylase antizyme 1 The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamine in cells. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis pathway; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as by inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs, and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization (PMID:16120325). Alternatively spliced transcript variants have also been noted for this gene. [provided by RefSeq, Jul 2014] 19 19 19 p13.3 2203699 2207665 + 2269520 2273487 + 2269521 2273488 + 1580863;6480464;7244195 21849468 10473601;10781034;11571290;12359729;12477932;15057824;15355308;15476163;15491992;15670771;16061000;16120325;16373339;16713569;17630775;17761941;17900240;18029348;18062773;18089576;19635796;20029029;20185758;20861309;21552531;21931692;21988832;22008221;22157018;23260169;24192781;2724368;7811704;7813017;8001569;8185631;8954789;9132164;9426243 4946 J3QQY4;K7EPM6;K7ERW1;P54368 ABBA01002715;ABBA01002716;AC004152;AK307221;AL542477;AMYH02035187;AY865622;BC007247;BC010063;BC013037;BC042364;BC053360;BC055397;BC081537;BC093652;BC100291;BC112133;BI667301;BM423450;CH471139;D78361;D87914;D89870;HY050868;KF456468;NM_001301020;NM_004152;U09202 AAA82154;AAA82155;AAC02802;AAC02803;AAH93652;AAI12134;AAW56074;BAA11373;BAA11374;BAA13497;BAA23101;EAW69393;EAW69394;EAW69395;NP_001287949;NP_004143;P54368 Hs.446427 1740037;1797160;2159341 D19S850;OAZ1;RH71137 AZI;MGC138338;OAZ;ODC-Az antizyme 1 APPROVED protein-coding ENSG00000104904 HGNC:8095 03346 601579 REVIEWED 6481018 OBSCN-IT2 OBSCN intronic transcript 2 (non-protein coding) 100874304 AL670729 miscrna HGNC:41411 1344023 OAZ2 ornithine decarboxylase antizyme 2 The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamine in cells. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis pathway; thus, completing the auto-regulatory circuit. This gene encodes antizyme 2, the second member of the antizyme family. Like antizyme 1, antizyme 2 has broad tissue distribution, inhibits ODC activity and polyamine uptake, and stimulates ODC degradation in vivo, however, it fails to promote ODC degradation in vitro. Antizyme 2 is expressed at lower levels than antizyme 1, but is evolutionary more conserved, suggesting it likely has an important biological role. Studies also show different subcellular localization of antizymes 1 and 2, indicating specific function for each antizyme in discrete compartments of the cell. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2014] 15 15 15 q22.31 41857387 41873073 - 64979773 64995462 - 64687574 64703263 - 1580863;6480464;7244195 21849468 10352227;12359729;12477932;15355308;17332016;17353931;17900240;19322201;19725046;19960435;22008221;23260169;24250222;8889548;9428668;9782076 4947 J3KRW5;J3KS80;J3QLV9;O95190 ABBA01038876;AC090543;AC100830;AF057297;AF242520;AF242521;AMYH02030613;BC035493;BC047755;BC063577;BC073877;BC092483;BC119629;BC119630;BC127630;BC127631;BC148316;BG059726;BI597670;BM686393;BX648172;CH471082;DA210449;NM_001301302;NM_002537 AAD03265;AAF99601;EAW77690;EAW77691;EAW77692;NP_001288231;NP_002528;O95190 Hs.744924 1697538;2117550;2133339;2186794;5014029;5020946;5020948;5037552;5109281 1830;D13S1639;D1S1425;D8S2279;G35510;L17971;RH102275;RH41813;RH78675 AZ2 ODC-Az 2 APPROVED protein-coding ENSG00000180304 HGNC:8096 11966 604152 REVIEWED 1606848 OC90 otoconin 90 ENCODES a protein that exhibits calcium ion binding (inferred); phospholipase A2 activity (inferred); INVOLVED IN lipid catabolic process (inferred); phospholipid metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl (ortholog); paracetamol (ortholog) 8 8 8 q24.22 129212212 129247331 - 133036467 133071627 - 132024220 132059380 - 6480464;8554872 10329003;15188402;8382789;9860971 729330 Q02509 ABBA01014213;AC092817;AC100868;AK297911;AMYH02018803;NM_001080399 AAI60180;BAG60230;NP_001073868;Q02509 Hs.653174 1707848;1764437 SHGC-148026;SHGC-82157 PLA2L OTTHUMP00000179158;OTTHUMP00000227190;OTTHUMP00000244306;otoconin-90;phospholipase A2 homolog;phospholipase A2-like protein-coding ENSG00000253117 HGNC:8100 601658 VALIDATED 1345410 OCD1 obsessive-compulsive disorder 1 ASSOCIATED WITH Anxiety Disorders (inferred); Obsessive-Compulsive Disorder (inferred) 7240710 4949 HGNC:8102 164230;607834 1603010 OCEL1 occludin/ELL domain containing 1 INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; calcitriol 19 19 19 p13.11 17238595 17241568 + 17337040 17340028 + 17226221 17229219 + 6480464 12477932;14702039;15489334;17207965;21832049;23602568;24250222 79629 M0QXM2;M0QY63;M0QZ32;M0QZ36;M0QZZ7;M0R0F7;M0R0L3;M0R1A4;Q9H607 ABBA01051187;AC010646;AF109191;AK026362;AMYH02035698;BC004121;BC029361;BC038945;CH471106;NM_024578;XM_005260079;XM_006722899 AAH04121;AAH29361;AAQ13501;ADQ32267;BAB15460;EAW84577;EAW84578;EAW84579;NP_078854;Q9H607;XP_005260136;XP_006722962 Hs.422676 1776551;2146369;5016851 D19S1138;RH16254;RH80031 FLJ22709;FWP009;S863-9 occludin/ELL domain-containing protein 1 protein-coding ENSG00000099330 HGNC:26221 08004 PROVISIONAL 5686923 OCIAD1-AS1 OCIAD1 antisense RNA 1 p11 11329013 100861517 AC079927;BG200457 Hs.661065 APPROVED ncrna HGNC:40751 1352949 OCA2 oculocutaneous albinism II This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 15 15 15 q 6159864 6486885 - 28000021 28344483 - 27754875 28099337 - 1580863;6480464;7240710;8554872;9491821;9491829;8699517;9491840;9491830;9491841;9491820;9491818;9491819;9491831;9491836 11179026;12469324;15889046;19384953;19710684;20019752;21270109;22734612;24617981;7920637 10094567;10649493;10671067;10987646;11310796;11601658;12028586;12163334;12477932;12579416;12713581;12727022;12817591;12876664;1415228;1509264;15262401;15489334;15712365;16417222;16453125;17236130;17568986;17570052;17619204;1773534;17767372;17952075;17960121;18093281;18252221;18252222;18326704;18463683;18483556;18528436;18563784;18636124;18650849;18676680;18680187;18683857;18839200;19060277;19116314;19170196;19208107;19320733;19340012;19382693;19472299;19625176;19626598;19692168;19772629;19865097;19913121;20221248;20301410;20308648;20379614;20457063;20585627;20601102;20628086;20629734;20801516;20806075;20861488;20944644;21085994;21541274;21712187;21979861;22042571;22133426;22561518;22645275;23063908;23103111;23118974;23165166;23548203;23601698;23824587;24023788;24096233;24361966;25119903;7601462;7762554;7874125;8302318;8421497;8875191;9259203 4948 C9JDV3;C9JLG9;Q04671 ABBA01044296;ABBA01044297;ABBA01044298;ABBA01044299;ABBA01044300;ABBA01044301;ABBA01044302;ABBA01044303;AC079090;AC090696;AC124091;AC135329;AC243653;AMYH02030121;AMYH02030122;BC012097;BX398277;CH471151;M97901;M99564;NG_009846;NM_000275;NM_001300984;U19152;U19153;U19154;U19155;U19156;U19157;U19158;U19159;U19160;U19161;U19162;U19163;U19164;U19165;U19166;U19167;U19168;U19169;U19170;U19171;U19172;U19173;U19174;U19175;U19176;XM_005268259 AAA36430;AAA36477;AAC13783;AAC13784;AAH12097;EAW57661;EAW57662;EAW57663;NP_000266;NP_001287913;Q04671;XP_005268316 Hs.654411 1337190;1341048;1724065;1727613;1745051;1745053;1745055;1745057;1745059;1745061;1745063;1745065;1745067;1745069;1745071;1745073;1745075;1745083;1745085;1745087;1745089;1745093;1745095;1764375;1765721;1773162;1775864;1783272;1853873;1853875;2125839;2142087;2148784;2148786;2185516;5016528;5022865;5095328;5095330;5095332;5095334;5095336;5117642;5117644;7187524 D15S1250;D15S144;D15S156;D15S217;D15S661;D15S931;G63215;GDB:593271;GDB:593274;GDB:593280;GDB:593284;GDB:593290;GDB:593293;GDB:593377;GDB:593381;GDB:593391;GDB:593466;GDB:593504;GDB:593534;GDB:593548;GDB:593558;GDB:593798;GDB:593820;GDB:593842;GDB:593865;GDB:593876;GDB:593922;GDB:593931;GDB:593955;L29654;OCA2_Exon_11;OCA2_Exon_14;OCA2_Exon_15;OCA2_Exon_18;OCA2_Exon_21;OCA2_Exon_6;RH119044;RH69210;SGC32570;SHGC-12468;SHGC-147969;SHGC-149153;SHGC-156027;WI-15852 BEY;BEY1;BEY2;BOCA;D15S12;EYCL;EYCL2;EYCL3;HCL3;P;PED;SHEP1 OTTHUMP00000159102;OTTHUMP00000159103;P-protein;eye color 2 (central brown);eye color 3 (brown);hair color 3 (brown);melanocyte-specific transporter protein;oculocutaneous albinism II (pink-eye dilution homolog, mouse);pink-eyed dilution protein homolog;total brown iris pigmentation APPROVED protein-coding ENSG00000104044 HGNC:8101 01945 203200;227220;611409 REVIEWED 737583 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 201585880 201756652 + 228395740 228566577 + 228208041 228378876 + 6480464;8554872 10997877;11448995;11717165;11756498;11814696;12376548;12477932;12527750;12631729;12787561;14702039;15013951;15146197;15185077;15489334;16205939;16344560;16625316;16710414;16962094;17360660;17382936;17549794;17716621;17720975;18029348;18350308;18782775;19258391;20379614;20467438;20489725;22251166;22441987;22573887;23537643 84033 A6NGQ3;H3BPW6;H3BPX2;H3BQA7;Q5VST9 AB046776;AB046859;ABBA01005833;AJ002535;AJ314896;AJ314898;AJ314900;AJ314903;AJ314904;AJ314905;AJ314906;AJ314907;AJ314908;AK024186;AK097489;AL353593;AL359510;AL670729;AL832357;AL833724;AM231061;AMYH02002839;AMYH02002840;AMYH02002841;AMYH02002842;AMYH02002843;BC034746;BC043916;BC098118;BC098262;BC098292;BC099731;BC114382;BC114461;BU180714;CH471098;CN302348;DB163213;DB445363;DQ400343;NG_032122;NM_001098623;NM_001271223;NM_052843;XM_005273287;XM_005273288;XM_005273289;XM_005273290;XM_005273291;XM_005273292;XM_005273293;XM_005273294;XM_005273295;XM_005273296;XM_005273297;XM_005273298;XM_005273299;XM_005273300;XM_005273301;XM_005273302;XM_005273304;XM_005273305;XM_005273307;XM_005273309;XM_005273310;XM_006711819;XM_006711820;XM_006711821;XM_006711822;XM_006711823;XM_006711824;XM_006711825;XM_006711826;XM_006711827;XM_006711828;XM_006711829 AAH98118;AAH98262;AAH98292;AAH99731;AAI14383;AAI14462;ABD63255;BAB13382;BAB13465;CAC44768;CAC85745;CAC85746;CAC85747;CAC85750;CAC85751;CAC85752;CAC85753;CAC85754;CAC85755;CAH56259;CAJ76912;EAW69866;EAW69867;NP_001092093;NP_001258152;NP_443075;Q5VST9;XP_005273344;XP_005273345;XP_005273346;XP_005273347;XP_005273348;XP_005273349;XP_005273350;XP_005273351;XP_005273352;XP_005273353;XP_005273354;XP_005273355;XP_005273356;XP_005273357;XP_005273358;XP_005273359;XP_005273361;XP_005273362;XP_005273364;XP_005273366;XP_005273367;XP_006711882;XP_006711883;XP_006711884;XP_006711885;XP_006711886;XP_006711887;XP_006711888;XP_006711889;XP_006711890;XP_006711891;XP_006711892 Hs.650039;Hs.656999 1762833;1775955;1858327;5493539 SHGC-146605;SHGC-76456;SHGC-76459;UniSTS:487117 ARHGEF30;DKFZp666E245;FLJ14124;KIAA1556;KIAA1639;MGC120409;MGC120410;MGC120411;MGC120412;MGC138590;UNC89 OTTHUMP00000037764;obscurin;obscurin, myosin light chain kinase;obscurin-MLCK;obscurin-RhoGEF;obscurin-myosin light chain kinase APPROVED protein-coding ENSG00000154358 HGNC:15719 08594;10551 608616 REVIEWED 1351024 OCIAD1 OCIA domain containing 1 FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; formaldehyde; hydrogen peroxide 4 4 4 p11 49281441 49312217 + 48832599 48863834 + 48830582 48861817 + 6480464 11162530;12477932;14702039;16196087;16341674;16344560;17213182;18328549;19460752;19946888;20195357;20515946;20877624;21139048;21890473;21906983;22081784;22726067;22797925;22939629;23000965;23284715;24250222 54940 D6R918;D6R9T5;D6RA54;D6RBC5;D6RBN5;D6RC55;D6RDI5;D6RDK1;D6RDK6;D6RF01;D6RF07;D6RG39;D6RI08;D6RIT9;D6RIV2;Q9NX40 ABBA01014355;AC079927;AF251296;AF323665;AF324350;AI038315;AK000462;AK123529;AK297864;AL519557;AL539411;AL555289;AMYH02009175;BC003409;BC088361;BI549536;BM819316;BM999322;BQ272551;CD515566;CH471069;DA037995;DB064148;DT215975;H09533;NM_001079839;NM_001079840;NM_001079841;NM_001079842;NM_001168254;NM_017830;XM_005248112;XM_005248113;XM_005248114;XM_006714016;XM_006714017;XM_006714018 AAG44596;AAG45220;AAH03409;AAH88361;AAK12121;ADZ15811;BAA91181;BAG60193;EAW93070;EAW93072;EAW93073;NP_001073308;NP_001073309;NP_001073310;NP_001073311;NP_001161726;NP_060300;Q9NX40;XP_005248169;XP_005248170;XP_005248171;XP_006714079;XP_006714080;XP_006714081 Hs.518750 1673020;1678767;1684357;1689490;1690974;2117535 G19660;NIB1159;RH10469;RH41412;RH93430;SHGC-59724 FLJ20455;MGC111072;OCIA;TPA018 Asrij;OCIA domain-containing protein 1;OTTHUMP00000128288;OTTHUMP00000218760;OTTHUMP00000218761;OTTHUMP00000218762;OTTHUMP00000218763;OTTHUMP00000218776;OTTHUMP00000221265;OTTHUMP00000221267;OTTHUMP00000221268;OTTHUMP00000221269;OTTHUMP00000221270;OTTHUMP00000221283;OTTHUMP00000221286;OTTHUMP00000221287;OTTHUMP00000223210;OTTHUMP00000223211;OTTHUMP00000223295;OTTHUMP00000223296;OTTHUMP00000223297;OTTHUMP00000223298;OTTHUMP00000223299;ovarian carcinoma immunoreactive antigen protein-coding ENSG00000109180 HGNC:16074 17654 VALIDATED 1349620 OCIAD2 OCIA domain containing 2 FOUND IN endosome (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; 5-aza-2'-deoxycytidine 4 4 4 p11 49335798 49357208 - 48887405 48908815 - 48885380 48906828 - 737633;6480464 12477932 16341674;17054434;21139048;21832049;22505724;22726067;22939629;23000965;24270855;24457600 132299 D6RD77;J3KPI9;Q56VL3 ABBA01014355;AC020593;AC105444;AK298305;AMYH02009175;AY472117;BC032808;BG748993;BI546814;BM756234;BM782144;BU508058;CH471069;CR749310;FB746707;NM_001014446;NM_001286773;NM_001286774;NM_152398;NR_104589;W68799 AAH32808;AAS47684;BAG60559;CAH18165;CAT04674;EAW93075;EAW93076;EAW93077;NP_001014446;NP_001273702;NP_001273703;NP_689611;Q56VL3 Hs.95835 1646780;2174376;5112377 D4S1183;RH104446;SHGC-59216 DKFZp686C03164;MGC45416 OCIA domain-containing protein 2;OTTHUMP00000158790;OTTHUMP00000218840;OTTHUMP00000218841;ovarian carcinoma immunoreactive antigen;ovarian carcinoma immunoreactive antigen-like protein protein-coding ENSG00000145247 HGNC:28685 14873 VALIDATED 1343681 OCIAD2P1 OCIA domain containing 2 pseudogene 1 8 8 8 q21.13 77485162 77485775 - 81480200 81480813 - 80567965 80568578 - 100287085 ABBA01004061;AC009812;AMYH02018306;NG_017000 APPROVED pseudo HGNC:31827 INFERRED 1318443 OASL 2'-5'-oligoadenylate synthetase-like ENCODES a protein that exhibits DNA binding; double-stranded RNA binding; poly(A) RNA binding; INVOLVED IN negative regulation of viral genome replication; response to virus; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; membrane; nucleolus; INTERACTS WITH 1-nitropyrene; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 12 12 12 q24.2 121093993 121112685 - 121458095 121477045 - 121020292 121039242 - 1580863;6480464;8554872 10087211;11827452;12477932;14702039;14728690;15489334;16235172;16344560;16541075;18029348;18571276;18931074;19203244;19460752;19559055;19946888;20074559;20379614;20506645;20581827;20588308;20889853;21050126;21203500;21943158;21963094;21987572;21988832;22531715;22586326;22939635;23306614;24328427;24931123;776974;7776974;9722630;9826176 8638 H0YGP3;Q15646 ABBA01020149;AC079602;AJ225089;AK023956;AK314419;AL711263;AMYH02027387;AW069118;BC117408;BC117410;BG339739;BG744291;BM909951;BM918192;CH471054;DB005346;JQ792168;L40387;NM_001261825;NM_003733;NM_198213 AAC41733;AAI17409;AAI17411;ADR83055;AFJ00074;BAG37039;BAG51241;CAA12396;EAW98235;EAW98236;EAW98237;EAW98238;NP_001248754;NP_003724;NP_937856;Q15646 Hs.118633 1746481;1793536;2106905;2106907;2106909;2106911;2106913;2106915;2106917;2109595;2163688 G64627;OASL_8839;PGOS01;PGOS02;PGOS06b;PGOS3UT;PGOS5UT01;PGOS5UT02;PGOS5UT03;PMC229255P2;RH65656 2'-5'-OAS-RP;TRIP-14;TRIP14;p59 OASL;p59-OASL;p59OASL 2'-5'-OAS-related protein;2'-5'-oligoadenylate synthase-like protein;59 kDa 2'-5'-oligoadenylate synthase-like protein;59 kDa 2'-5'-oligoadenylate synthetase-like protein;OASLd;OTTHUMP00000207044;OTTHUMP00000207045;TR-interacting protein 14;thyroid receptor-interacting protein 14 protein-coding ENSG00000135114 HGNC:8090 04473 603281 VALIDATED 737307 OCM oncomodulin Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 5879996 5885563 + 5920429 5925994 + 5880798 5886363 + 1580863;6480464;7204685 20943758 11181995;12477932;12853948;1559707;16344560;21084621;21734401;2306116;3179268;8354278;8611623 654231 P0CE72 ABBA01039483;AC004983;AMYH02015155;BC069468;BC069512;BC069550;BC113704;BC113706;BC147028;BC147029;CB045979;CH471144;DB339645;L20345;L20346;L20347;L20348;NM_001097622 AAA02869;AAH69468;AAH69512;AAH69550;AAI13705;AAI13707;AAI47029;AAI47030;ADR83469;EAW87352;NP_001091091;P0CE72 Hs.571315 1680691;1689660;5120243 GDB:217597;RH40682;RH78909 MGC142264;MGC142266;MGC97453;MGC97465;MGC97477;OCM1;OM;ONCM OTTHUMP00000208112;OTTHUMP00000208113;hCG18255;oncomodulin 1;oncomodulin-1;parvalbumin beta APPROVED protein-coding ENSG00000122543 HGNC:8105 164795 VALIDATED 1350275 OCP1 organ of Corti protein 1 4930 HGNC:8106 1352743 OCSTAMP osteoclast stimulatory transmembrane protein INVOLVED IN cellular response to estrogen stimulus (ortholog); cellular response to tumor necrosis factor (ortholog); multinuclear osteoclast differentiation (ortholog); FOUND IN integral component of membrane (inferred); INTERACTS WITH succimer (ortholog) 20 20 20 q13.12 41880995 41890661 - 45169670 45179213 - 46541031 46550574 - 6480464 11181995;18064667 128506 Q9BR26 ABBA01052680;AL034424;AMYH02037161;CH471077;NM_080721 EAW75730;EAW75731;NP_542452;Q9BR26 Hs.526636 2148156 WI-17691 C20orf123;OC-STAMP;dJ257E24.3 OTTHUMP00000031207;transmembrane protein C20orf123 APPROVED protein-coding ENSG00000149635 HGNC:16116 PROVISIONAL 1350136 OCRL oculocerebrorenal syndrome of Lowe This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008] X X X q25 129062951 129113094 + 128673826 128726533 + 129539849 129592556 + 1580863;6480464;6907045;7240710;8554872;8699517 10639484;10767176;10923037;12428211;12477932;12915445;1321346;15627218;15772651;15829501;15917292;16420990;16902405;17384968;17765681;18019214;18307981;1840503;18500547;1897526;19172411;19211563;19322201;19390221;19536138;19546591;19582483;19700499;19940034;20043897;20133602;20301653;20629659;21031565;21225285;21233288;21249396;21378754;21666675;21706022;21854507;21890473;21901156;21971085;22177125;22228094;22351770;22378746;22543976;22790198;22876375;22907655;22965764;23000965;23153494;23389333;25027693;7761412;8504307;9038219;9048911;9199559;9430698;9593760;9632163;9682219;9788721;9838104;9915833 4952 Q01968;Q8WWC2 ABBA01047808;ABBA01047809;ABBA01047810;ABBA01047811;ABBA01047812;ABBA01047813;ABBA01047814;ABBA01047815;ABBA01047816;ABBA01047817;ABBA01047818;AK226116;AK293107;AL022162;AL138745;AL662877;AMYH02040463;AMYH02040464;BC018003;BC025253;BC094726;BC130612;BC144106;CH471107;NG_008638;NM_000276;NM_001587;S62084;S62085;U57627;XM_005262421;XM_005262422;XM_006724760;XM_006724761;Z73496 AAB03839;AAB26926;AAD13933;AAH18003;AAH25253;AAH94726;AAI30613;AAI44107;BAF85796;EAX11830;EAX11831;EAX11832;NP_000267;NP_001578;Q01968;XP_005262478;XP_005262479;XP_006724823;XP_006724824 Hs.126357 1669446;1694338;1734116;1748209;1793618;1793620;1793624;2115466;2117481;2141744;2143562;2146610;2181330;5092580 A006N02;DXS6854;DXS8279;G42864;G54523;G66683;L77650;L78118;PMC24149P18;PMC24149P19;PMC24149P20;RH1710;RH79055;SHGC-16228 INPP5F;LOCR;NPHL2;OCRL-1;OCRL1 Lowe oculocerebrorenal syndrome protein;OTTHUMP00000024304;OTTHUMP00000024305;inositol polyphosphate 5-phosphatase OCRL-1;phosphatidylinositol polyphosphate 5-phosphatase APPROVED protein-coding ENSG00000122126 HGNC:8108 02395 300535;300555;309000 REVIEWED 1603688 OBSL1 obscurin-like 1 Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010] 2 2 2 q35 214185413 214206231 - 220415450 220436357 - 219550728 219571609 - 6480464;7240710;8554872;8699517 12168954;12477932;14702039;15174051;15489334;17289344;18477606;19481195;19877176;20301654;20498229;20562859;20797700;21139048;21572988;21737058;21903422;22156540;23018678;23443559;23455922;23602568;24778252;24793695;8619474;8681137;9110174;9734811 23363 A6NN50;A8MSZ8;H0Y684;O75147;Q9H8B3;S4R463 AB014557;ABBA01023840;AC009955;AF035292;AK023854;AK025946;AK299261;AMYH02005823;BC007201;BC061909;CK904385;DB475523;EF063637;EF063638;F30329;NG_016977;NM_001173408;NM_001173431;NM_015311;XM_005246421;XM_005246423;XM_005246424;XM_005246425;XM_005246427;XM_006712386;XM_006712387 AAH07201;AAH61909;ABO42327;ABO42328;BAA31632;BAB14704;BAH12981;NP_001166879;NP_001166902;NP_056126;O75147;XP_005246478;XP_005246480;XP_005246481;XP_005246482;XP_005246484;XP_006712449;XP_006712450 Hs.526594 1698420;1800132;1801616;1804322;1804662;1804986;1808422;1810902;1813510;1813934;1815936;1817534;1818132;1818206;1818466;1818714;1818984;1821174;1822856;1824232;1824378;1824928;1832146;1835632;1838238;1840924;1846546;1964898;1964900;1964902;1964904;1964906;1964908;1964910;1964912;1964914;1964916;1964918;1964920;1964922;1964924;1964926;1964928;1964930;1964932;1964934;1964936;1964938;1964940;1964942;1964944;1964946;1964948;1964950;1964952;1964954;1964956;1964958;1964960;1964962;1964964;1964966;1964968;1964970;1964972;1964974;1964976;1964978;1964980;1964982;1964984;1964986;1964988;1964990;1964992;1964994;1964996;1964998;1965000;1965002;1965004;1965006;1965008;1965010;1965012;1965014;1965016;1965018;1965020;1965022;1965024;1965026;1965028;1965030;1965032;1965034;1965036;1965038;1965040;1965042;1965044;1965046;1965048;1965050;1965052;1965054;1965056;1965058;1965060;1965062;1965064;1965066;1965068;1965070;1965072;1965074;1965076;1965078;1965080;1965082;1965084;1965086;1965088;1965090;1965092;1965094;1965096;1965098;1965100;2143057;2214060;2214062;2214064;2214066;2214068;2214070;2214072;2214074;2214076;2214078;2214080;2214082;2214084;2214086;2214088 D10S2362;ECD00922;ECD01686;ECD03085;ECD03263;ECD03433;ECD05192;ECD06449;ECD07776;ECD07994;ECD09008;ECD09817;ECD10122;ECD10160;ECD10294;ECD10421;ECD10557;ECD11664;ECD12516;ECD13213;ECD13287;ECD13563;ECD17211;ECD18972;ECD20291;ECD21655;REN53323;REN53324;REN53325;REN53326;REN53327;REN53328;REN53329;REN53330;REN53331;REN53332;REN53333;REN53334;REN53335;REN53336;REN53337;REN53338;REN53339;REN53340;REN53341;REN53342;REN53343;REN53344;REN53345;REN53346;REN53347;REN53348;REN53349;REN53350;REN53351;REN53352;REN53353;REN53354;REN53355;REN53356;REN53357;REN53358;REN53359;REN53360;REN53361;REN53362;REN53363;REN53364;REN53365;REN53366;REN53367;REN53368;REN53369;REN53370;REN53371;REN53372;REN53373;REN53374;REN53375;REN53376;REN53377;REN53378;REN53379;REN53380;REN53381;REN53382;REN53383;REN53384;REN53385;REN53386;REN53387;REN53388;REN53389;REN53390;REN53391;REN53392;REN53393;REN53394;REN53395;REN53396;REN53397;REN53398;REN53399;REN53400;REN53401;REN53402;REN53403;REN53404;REN53405;REN53406;REN53407;REN53408;REN53409;REN53410;REN53411;REN53412;REN53413;REN53414;REN53415;REN53416;REN53417;REN53418;REN53419;REN53420;REN53421;REN53422;REN53423;REN53424;RH102755;RH11732;stSG633085;stSG633087;stSG633088;stSG633089;stSG633090;stSG633091;stSG633093;stSG633094;stSG633095;stSG633096;stSG633097;stSG633098;stSG633099;stSG633100;stSG633102 3M2;KIAA0657;MGC71026 OTTHUMP00000065227;OTTHUMP00000065228;OTTHUMP00000065424;OTTHUMP00000199573;obscurin-like protein 1 APPROVED protein-coding ENSG00000124006 HGNC:29092 610991;612921 REVIEWED 1352488 ODCP ornithine decarboxylase pseudogene 7 7 q32.1 128668552 128671091 + 129028498 129031037 + 4954 ABBA01057647;AC018639;AMYH02016724;NG_027864 ODC2 pseudo HGNC:8110 INFERRED 1625849 OCM2 oncomodulin 2 This gene is similar to the oncomodulin gene, a high-affinity calcium ion-binding protein that belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. [provided by RefSeq, Jul 2008] 7 7 7 q21.2 92307953 92313368 - 97614012 97619416 - 97984700 97990104 - 6480464;8554872 11329013;12477932;12583602;12853948;15489334;1559707;15610002;17207965;21044950;21658281;2306116;3179268;3558395;4005827;8077283;8354278;8611623;9405492;9847074 4951 P0CE71 ABBA01045740;AC004967;AMYH02016319;CH236956;CH471091;NM_006188 AAI56842;AAQ96880;ADQ32911;EAW76722;NP_006179;P0CE71 Hs.510456 1653356;1680691;1689660;2162335;5120243 GDB:1234274;GDB:217597;OCM;RH40682;RH78909 OCM;OM OTTHUMP00000205214;oncomodulin-like;parvalbumin beta;putative oncomodulin-2 APPROVED protein-coding ENSG00000135175 HGNC:34396 01274 REVIEWED 731324 ODC1 ornithine decarboxylase 1 This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013] 2 2 2 p25 10496293 10504232 - 10580507 10588680 - 10440371 10448554 - 1578320;1300048;1580863;6480464;6907045;7242912;7242932;7240710;7244193 10430362;13678416;1415709;2292587 10064588;10588659;10623504;10754523;11461922;11830503;11945886;12359729;12477932;12810952;1423312;15015770;15489334;15534104;15734972;1598217;16219697;16459331;16469300;16520895;16548883;17047198;17088079;17353931;17378176;17569126;17582600;17719568;17900240;17957960;18029348;18062773;18330478;18413818;18548481;19047152;19225907;19789310;19832840;19960435;20199977;20456464;20600019;20798393;20814750;20831369;20838441;21454364;21552531;21854048;21900206;21906983;21930798;21931692;21963094;21988832;2227439;22730407;22850629;22976807;2317811;2318872;23872168;23917584;24002681;24096079;24250222;24260338;24386364;2440930;2587220;2693021;3036086;3308908;3595418;3755388;7821789;8043198;8168440;8185631;8519686 4953 B4DXF8;C9JG30;P11926 AB362578;ABBA01015615;AC007249;AI277727;AK292352;AK301956;AK312766;AMYH02003267;AY841870;BC014562;BC025296;BI463057;CH471053;CQ834228;D28365;DQ185043;HY044065;M16650;M20372;M31061;M33764;M34157;M34158;M81740;NG_012105;NM_001287188;NM_001287189;NM_001287190;NM_002539;S71124;X16277;X53271;X55362 AAA59966;AAA59967;AAA59968;AAA59969;AAA60563;AAA60564;AAH25296;AAV88093;AAY15034;ABD14423;ABM87068;ABW03841;ACE86536;ACE87215;BAA05731;BAF85041;BAG35632;BAG63370;CAA34353;CAA37369;CAA39047;CAH05329;EAX00958;EAX00959;NP_001274117;NP_001274118;NP_001274119;NP_002530;P11926 Hs.467701 1667243;1679071;1741501;1793308;2132836;2162279;2190767;2219228 G07092;GDB:181255;ODC1;ODC1__6102;PMC207647P3;RH11814;RH70838;RH91096 ODC OTTHUMP00000115512;OTTHUMP00000200387;ornithine decarboxylase APPROVED protein-coding ENSG00000115758 HGNC:8109 01324 114500;165640 REVIEWED 733828 ODF1 outer dense fiber of sperm tails 1 The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. The human outer dense fibers contains at least 10 major proteins and this gene encodes the main protein. [provided by RefSeq, Jul 2008] 8 8 8 q22.3 99751133 99760516 + 103563848 103573245 + 102551620 102561017 + 1580863;6480464 10373309;10381817;11329013;11468777;11774369;12477932;12533418;12594206;1418683;15489334;17762160;20112736;20379614;23770605;8111388;8305202;8873064;8949892;9045620 4956 E5RH17;Q14990 ABBA01037617;AK315276;AMYH02018535;AP002851;AP002852;BC104456;BC104457;BG214987;CH471060;DB457574;M93131;M93132;NG_028006;NM_024410;X74614 AAI04457;AAI04458;CAA52685;EAW91847;EAW91848;EAW91849;NP_077721;Q14990 Hs.159274 1341155;1686614;2219230 D8S1049;ODF1__6103;RH75985 CT133;HSPB10;MGC129928;MGC129929;ODF;ODF2;ODF27;ODFP;ODFPG;ODFPGB;RT7;SODF ODFPGA;OTTHUMP00000227289;cancer/testis antigen 133;outer dense fiber of sperm tails, 27-kD;outer dense fiber protein 1 APPROVED protein-coding ENSG00000155087 HGNC:8113 01687 182878 REVIEWED 1344734 OCLM oculomedin The protein encoded by this gene is induced by cyclic mechanical stretching in trabecular cells of the eye and it is also expressed in retina. This protein may play a role in trabecular meshwork function and the development of glaucoma. [provided by RefSeq, Jul 2008] 1 1 1 q25 159480416 159481299 + 186369704 186370587 + 186400572 186401455 + 1580863 10362512;11129344;12477932;12655282;12868032;15489334 10896 Q9Y5M6 ABBA01027704;AF142063;AL596220;AMYH02002312;BC069096;BC093987;BC093989;CH471067;NM_022375 AAD43676;AAH69096;AAH93987;AAH93989;EAW91210;EAW91211;NP_071770;Q9Y5M6 Hs.679230 2126689;2219226;2220362 OCLM__6101;UniSTS:480712;UniSTS:495134 TISR trabecular meshwork inducible stretch response protein;trabecular meshwork-inducible stretch response protein APPROVED protein-coding ENSG00000262180 HGNC:8103 16054 604301 REVIEWED 1603034 ODAM odontogenic, ameloblast asssociated INVOLVED IN odontogenesis of dentin-containing tooth; ASSOCIATED WITH AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 (inferred); FOUND IN fibril; INTERACTS WITH benzo[a]pyrene; calcitriol; copper(2+) sulfate 4 4 4 q13.3 68420214 68428263 + 71061441 71070293 + 70195724 70204576 + 6480464;7240710 11329013;12477932;14647039;14702039;16674676;17647262;18472969;18484335;20098747;20572917;21832049;23648148;8125298;8889549 54959 A1E959;D6RA81;H0Y8T7;H0YA46 AA025290;ABBA01022925;AC105347;AK000520;AK098169;AK225547;AMYH02009413;BC017796;BG181363;BG194365;CH471057;EF113908;NM_017855;XM_005265698;XM_006714245 A1E959;AAH17796;ABL11577;BAA91226;EAX05611;EAX05612;NP_060325;XP_005265755;XP_006714308 Hs.143811 2114303 STS-AA025291 APIN;FLJ20513 OTTHUMP00000159772;OTTHUMP00000219153;OTTHUMP00000219155;odontogenic ameloblast-associated protein protein-coding ENSG00000109205 HGNC:26043 13376 614832;614843 VALIDATED 1606519 ODF2L outer dense fiber of sperm tails 2-like FOUND IN centrosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; clorgyline 1 1 1 p22.3 85056509 85106021 - 86812507 86862025 - 86346824 86396342 - 6480464 10574462;12477932;16169070;20360068;21139048;21832049;8889548 57489 B5ME44;E9PJZ1;E9PMV9;E9PNP0;G5E956;H0YCM1;H0YD68;H0YF19;Q9ULJ1 AB033055;ABBA01045620;ABBA01045621;AC119749;AK302792;AK303209;AK308351;AL136382;AMYH02001406;BC009779;BC012579;BC026105;BC029420;BC047368;BC091490;BG777878;BI768058;BM971230;BM993592;BQ894001;BX499763;CD687053;CH471097;NM_001007022;NM_001184765;NM_001184766;NM_020729;XM_005271054;XM_005271055;XM_005271056;XM_005271057 AAH09779;AAH29420;AAH47368;AAH91490;BAA86543;BAG63995;BAG64299;EAW73188;EAW73189;EAW73190;EAW73191;EAW73192;NP_001007023;NP_001171694;NP_001171695;NP_065780;Q9ULJ1;XP_005271111;XP_005271112;XP_005271113;XP_005271114 Hs.149360 1706876;1751485;2140623;2146631;2184801;5014027;5020423;5115198;5118342 AL009909;D11S1053;D11S2442;D11S3206;D13S1621;SHGC-105314;SHGC-30477;SHGC-75093;SHGC-80924 KIAA1229;MGC111060;RP5-977L11.1;dJ977L11.1 OTTHUMP00000011769;OTTHUMP00000011770;OTTHUMP00000228660;OTTHUMP00000228661;outer dense fiber protein 2-like protein-coding ENSG00000122417 HGNC:29225 11134 VALIDATED 1320693 ODF3 outer dense fiber of sperm tails 3 ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM, Apr 2004] 11 11 11 p15.5 358619 362119 - 196761 200273 + 196761 200258 + 6480464;8554872 11870087;12477932;18976975;21460842;23077236;23096689;24026423 113746 F8W6Z3;Q96PU9 AB067774;ABBA01011167;AC069287;AL133658;AMYH02024127;AY713299;BC126222;BC126248;BC144022;CH471278;FJ436414;NM_001286136;NM_053280 AAI26223;AAI26249;AAI44023;AAW83203;ACN56469;ADR82882;BAB70734;CAH10709;EAW61249;NP_001273065;NP_444510;Q96PU9 Hs.350949 CT135;SHIPPO1;TISP50 OTTHUMP00000147615;OTTHUMP00000228526;cancer/testis antigen 135;hSHIPPO;outer dense fiber of sperm tails protein 3;outer dense fiber protein 3;sperm tail protein SHIPPO 1;sperm tail protein SHIPPO1;transcript induced in spermiogenesis protein 50 APPROVED protein-coding ENSG00000177947 HGNC:19905 16323 608356 VALIDATED 1348133 ODF3L1 outer dense fiber of sperm tails 3-like 1 INTERACTS WITH (-)-demecolcine; aflatoxin B1; ethyl methanesulfonate 15 15 15 q24.2 52942002 52945710 + 76016319 76020027 + 75723963 75727688 + 6480464 12477932;17207965 161753 Q8IXM7 ABBA01060538;AC019294;AMYH02030821;BC039862;CH471136;NM_175881;XM_006720414 AAH39862;ADQ33013;EAW99238;NP_787077;Q8IXM7;XP_006720477 Hs.144348 1730233 D15S139E MGC48986 OTTHUMP00000183521;outer dense fiber protein 3-like protein 1 protein-coding ENSG00000182950 HGNC:28735 11360 PROVISIONAL 1606628 ODF3B outer dense fiber of sperm tails 3B INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); fipronil (ortholog) 22 22 22 q13.33 34844865 34847035 - 50968836 50971008 - 50530409 50532579 - 6480464 10591208;12107413;12477932;15489334;19862010;19913121;20628086;21833088;23222517;23251661;8038210;8889548 440836 A1L1A8;A8MYP8;B5MC17;B5MCN9;B5MD02;C9JUR5 ABBA01042625;AMYH02038618;AW291097;BC127934;BC127935;BG149596;BM973820;CD674272;NG_011860;NM_001014440;S72487;U62317;XM_005261918;XM_005261920;XM_005261921;XM_006724415;XM_006724416;XM_006724417 A8MYP8;AAD14106;AAD14107;AAI27935;AAI27936;AAI72351;NP_001014440;XP_005261975;XP_005261977;XP_005261978;XP_006724478;XP_006724479;XP_006724480 Hs.531314 1744375 GDB:452618 ODF3L3 OTTHUMP00000197079;OTTHUMP00000197080;OTTHUMP00000197081;OTTHUMP00000197083;orf2 5' to PD-ECGF/TP;outer dense fiber protein 3-like protein 3;outer dense fiber protein 3B protein-coding ENSG00000177989 HGNC:34388 18640 VALIDATED 1346133 ODF4 outer dense fiber of sperm tails 4 This gene encodes a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 8273957 8280131 + 8243158 8249364 + 8339840 8346046 + 6480464;8554872 12477932;12728016;15270212;21832049;22588436;23096689 146852 C3TX97;Q2M2E3 AB081120;ABBA01054911;AC135178;AMYH02032923;AY237799;BC112010;BC112014;CH471108;FJ235526;NM_153007;XM_005256476;XM_005256478 AAI12011;AAI12015;AAO89569;ACI28935;BAC15594;EAW90059;NP_694552;Q2M2E3;XP_005256533;XP_005256535 Hs.186045 CT134;CT136;MGC138215;MGC138219;OPPO1;hOPPO1 OTTHUMP00000135332;cancer/testis antigen 134;cancer/testis antigen 136;outer dense fiber 4;outer dense fiber of sperm tails protein 4;outer dense fiber protein 4;testis-specific protein oppo 1 APPROVED protein-coding ENSG00000184650 HGNC:19056 17658 610097 REVIEWED 1350577 ODT1 oligodontia 1 4960 HGNC:8116 1352802 OED Oregon eye disease 2667510 4961 HGNC:8118 1344475 OFC1 orofacial cleft 1 ASSOCIATED WITH Branchio-Oto-Renal Syndrome (inferred); Branchiootic syndrome (inferred); Orofacial Cleft 1 (inferred) 7240710 4963 HGNC:8120 113650;119530;166780;602588 1347803 OFC2 orofacial cleft 2 ASSOCIATED WITH Orofacial Cleft 2 (inferred); OTOFACIOCERVICAL SYNDROME 2 (inferred) 7240710 9676424 4964 HGNC:8121 602966;615560 732985 OCLN occludin This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011] 5 5 q13.1 68788119 68853931 + 69492292 69558104 + 1359811;1580863;6480464;6484113;6907045;7240710;8554872;8699517 10548451 10026224;10497311;10575001;10581193;10591624;10601346;10749869;11181995;11228248;11502742;11679090;11700038;11710912;11782481;11878825;11950934;12071155;12118072;12169098;12184633;12419305;12477932;12639940;12667324;12668723;12728017;12804768;12932229;14512431;14991532;15054114;15069537;15252450;15372022;15472219;15489334;15500294;15622522;15659655;15761153;15806147;15977641;16081103;16134968;16207910;16344560;16616143;16924233;16959951;17038551;17243118;17283368;17359339;17525332;17553883;17635647;17855770;17962811;18005733;18029348;18276783;18318008;18329007;18386163;18397460;18474622;18489585;18550469;18560860;18574677;18662404;18667611;18782596;18802961;19017651;19052094;19054851;19073886;19114660;19125584;19174516;19182773;19184677;19332538;19437620;19438816;19478092;19515778;19538290;19661441;19756380;20003786;20028514;20152177;20164257;20198633;20463075;20504882;20663912;20727516;20822789;20844048;20878095;20937238;21139048;21415414;21536752;21551950;21632765;21641584;21806988;21821450;21857898;21858117;21890473;21906983;21956164;22031828;22053931;22134947;22135309;22197032;22448134;22591361;22711802;22761434;22927233;23000965;23155001;23220562;23390516;23428392;23503679;23554480;23555257;23792687;23793442;23924897;24081143;24250222;24318462;24660027;24739782;7798316;8601611;9175707;9212730;9243183;9531559;9792688 100506658 A8K3T2;Q16625 AB451306;AB451437;ABBA01048265;ABBA01048266;ABBA01048267;ABBA01167603;AC142525;AC145146;AC147575;AF400630;AI093221;AK290697;AK311037;AK313501;AMYH02011478;AMYH02011479;AMYH02011480;AMYH02011481;BC029886;BK001650;CH471137;DB226845;DQ786240;FJ786083;FJ786084;GQ225096;GQ225097;GQ225098;GQ402517;NG_028291;NM_001205254;NM_001205255;NM_002538;U49184;U53823;XM_006714512;XM_006726213 AAB00195;AAC50451;AAH29886;AAL47094;ABM83349;ABM86563;ACT53743;ACT53744;ACT83431;ACT83432;ACT83433;ACZ80515;BAF83386;BAG70120;BAG70251;DAA01837;EAW51275;EAW51276;NP_001192183;NP_001192184;NP_002529;Q16625;XP_006714575;XP_006726276 Hs.592605 1666248;1794292;2157821;5016478;5024756;5037552 D8S2279;GDB:434012;PMC310929P1;RH80030;STS-H94471;STS-U19251 BLCPMG;FLJ08163;FLJ18079;FLJ77961;FLJ94056;MGC34277;PPP1R115 OTTHUMP00000125187;OTTHUMP00000222347;phosphatase 1, regulatory subunit 115;tight junction protein occludin;tight junction protein occludin TM4 minus APPROVED protein-coding ENSG00000197822 HGNC:8104 251290;602876 REVIEWED 1350180 OFC3 orofacial cleft 3 ASSOCIATED WITH Orofacial Cleft 3 (inferred) 7240710 7668251 4965 HGNC:8122 600757 1321058 ODF3L2 outer dense fiber of sperm tails 3-like 2 FOUND IN cytoplasmic microtubule; INTERACTS WITH atrazine 19 19 19 p13.3 342634 354102 + 463346 474983 - 463346 474983 - 12477932;14702039;15489334;18271526;21182207;23602568 284451 Q3SX64 AA935122;ABBA01002563;ABBA01002564;AC005775;AC006124;AK097378;AMYH02035110;AW082140;BC104468;BC104469;CH471242;NM_182577;XM_005259545 AAI04469;AAI04470;BAC05028;EAW61196;NP_872383;Q3SX64;XP_005259602 Hs.104777 1684828;5017613 C19orf19;RH92814 C19orf19;FLJ40059;MGC129962;MGC129963 outer dense fiber protein 3-like protein 2 protein-coding ENSG00000181781 HGNC:26841 12700 VALIDATED 1605510 OFD1P10Y OFD1 pseudogene 10, Y-linked Y Y q11.223 25727742 25761045 + 23581595 23614898 + 12815422 386694 AC009947;AC016707;AC016752;NG_004755 OFD1P10;OFD1PY10;OFDYP10 APPROVED pseudo HGNC:23882 VALIDATED 1605509 OFD1P11Y OFD1 pseudogene 11, Y-linked Y Y Y q11.223 9990423 10017854 + 25916970 25944397 + 23770823 23798250 + 12815422 386695 AC025246;NG_004755 1748367;1750793;2172955;2188939;2189067;5115884;5115892 G65825;G65921;G65988;L18173;SHGC-103584;sY1149;sY1174 OFD1P11;OFD1PY11;OFDYP11 APPROVED pseudo HGNC:23883 VALIDATED 1352821 OFCC1 orofacial cleft 1 candidate 1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol (inferred); endoplasmic reticulum (inferred); microtubule cytoskeleton (inferred); INTERACTS WITH hydralazine; valproic acid; potassium dichromate (ortholog) 6 6 6 p24.3 10901109 11205894 - 9697863 10211841 - 9697630 10211608 - 6480464;8554872 12477932;15218257;17903295;19367581;20585627;20705733;21145461;22479202;22507240;23377640;23455924;24159190 266553 H0Y878;H7C4X1;H7C5F4;H7C5P6;Q8IZS0;Q8IZS4;Q8IZS5;R4GNG0 ABBA01022066;ABBA01022067;ABBA01022068;ABBA01022069;ABBA01022070;ABBA01022071;ABBA01022072;ABBA01022073;ABBA01022074;ABBA01022075;AF520800;AF520801;AF520802;AF520803;AF520804;AF520805;AF520806;AF520807;AF520808;AF548113;AF548114;AF548115;AF548116;AF548117;AF548118;AF548121;AF548122;AF548123;AL021332;AL031122;AL031906;AL136226;AL139332;AL159986;AL354868;AL359316;AMYH02013085;AMYH02013086;AMYH02013087;AMYH02013088;AMYH02013089;AMYH02013090;AMYH02013091;AY309094;BC113541;BC113543;BC143837;CH471087;XM_003118558;XM_003119969;XM_003960365 AAI13542;AAI13544;AAI43838;AAN06675;AAN06676;AAN06677;AAN06678;AAN06679;AAN06680;AAN06681;AAN06682;AAN06683;AAN59915;AAP74970;EAW55244;EAW55245;EAW55246;Q8IZS5;XP_003118606;XP_003120017;XP_003960414 Hs.532138;Hs.544715 1336142;1342172;1679091;1699894;1703380;1714557;1723415;1743229;1766511;1781120;2154593;7185041 D6S470;D6S940;DXS8199;GDB:306049;RH103555;RH118520;RH119792;RH70751;SHGC-149829;SHGC-68683;stdJ237I13T7 MGC142101;MGC142103;MRDS1 OTTHUMP00000214079;orofacial cleft 1 candidate gene 1 protein;orofacial clefting chromosomal breakpoint region 1;orofacial clefting chromosomal breakpoint region candidate 1 protein protein-coding HGNC:21017 17659 614287 MODEL 1605507 OFD1P13Y OFD1 pseudogene 13, Y-linked Y Y Y q11.223 10192265 10214711 + 27821142 27843573 - 25674995 25697426 - 12815422 386697 AC010682;NG_004755 5116368;5116370 sY2928;sY2929 OFD1P13;OFD1PY13;OFDYP13 APPROVED pseudo HGNC:23885 VALIDATED 1605506 OFD1P14Y OFD1 pseudogene 14, Y-linked Y Y Y q11.23 10001704 10017854 + 28017978 28034128 - 25871831 25887981 - 12815422 386698 AC007965;AC017005;NG_004755 1748367;1750793;2188939;2189067;5115884 G65825;G65921;G65988;SHGC-103584;sY1149 OFD1P14;OFD1PY14;OFDYP14 APPROVED pseudo HGNC:23886 VALIDATED 1349962 OFD1P16Y OFD1 pseudogene 16, Y-linked Y Y q11.223 23957534 23964359 - 21811387 21818212 - 12815422 442485 AC078938;NG_004755 2145311 DYF58S2 OFD1P16;OFD1PY16;OFDYP16 APPROVED pseudo HGNC:18213 VALIDATED 1343064 OFD1P18Y OFD1 pseudogene 18, Y-linked Y Y Y q11.22 9992104 9992478 + 28043354 28043728 - 25897207 25897581 - 9722947 10751 AC007965;L18173;NG_009011 2172955 L18173 71-7A2;CYorf1;OFD1P18;OFD1PY18 APPROVED pseudo HGNC:2589 INFERRED 1349979 OFD1P17 OFD1 pseudogene 17 5 5 5 p13 37096049 37099545 + 37209101 37212599 + 37208999 37212497 + 9722947 23738 ABBA01024177;AC025449;AMYH02011173;NG_003023;NG_032772 71-7A3;71-7A5;C5orf1;OFD1P1 APPROVED pseudo HGNC:1332 INFERRED 1604159 OFD1P1Y OFD1 pseudogene 1, Y-linked Y Y Y q11.222 5269903 5282210 + 19921079 19934714 + 17809199 17822834 + 12815422 378009 AC007742;AC095381;NG_004636 OFD1P1;OFD1PY1;OFDYP1 APPROVED pseudo HGNC:23873 VALIDATED 4110018 OFD1P19Y OFD1 pseudogene 19, Y-linked p11.2 9847074 100499439 AC068719;NG_023466 OFD1P19;OFD1PY19 pseudo HGNC:37910 1605505 OFD1P15Y OFD1 pseudogene 15, Y-linked Y Y q11.23 28215812 28234742 - 26069665 26088595 - 12815422 386699 AC006991;NG_004755 OFD1P15;OFD1PY15;OFDYP15 APPROVED pseudo HGNC:23887 VALIDATED 1604158 OFD1P2Y OFD1 pseudogene 2, Y-linked Y Y q11.222 20242502 20258697 - 18080616 18096811 - 12815422 378010 AC024183;NG_004636 1644434;5116912 DYF45S2;sY828 OFD1P2;OFD1PY2;OFDYP2 APPROVED pseudo HGNC:23874 VALIDATED 1605508 OFD1P12Y OFD1 pseudogene 12, Y-linked Y Y Y q11.223 10202864 10214746 + 26129447 26141328 + 23983300 23995181 + 12815422 386696 AC068601;AC073893;NG_004755 OFD1P12;OFD1PY12;OFDYP12 APPROVED pseudo HGNC:23884 VALIDATED 1351259 OFD1P3Y OFD1 pseudogene 3, Y-linked Y Y Y p11.2 313497 319575 - 8902151 8908229 + 9034110 9040188 + 12815422;9847074 386687 ABBA01060287;ABBA01060288;AC068719;NG_003116 2145311;2188979;2188981 DYF58S2;G66016;G66017 OFD1P19;OFD1P19Y;OFD1P3;OFD1PY19;OFD1PY3;OFDYP3 APPROVED pseudo HGNC:23875 INFERRED 1605515 OFD1P5Y OFD1 pseudogene 5, Y-linked Y Y q11.221 20743849 20791065 - 18581963 18629179 - 12815422 386689 AC022486;NG_004636 1672334;1731793;2164284;2188621;5021778;5021786;5022977;5116134;5116136;5116138;5116156;5116158 DYS132;DYS207;DYS210;G66363;sY1950;sY1951;sY1967;sY1968;sY1969;sY1982;sY1983;sY1984 OFD1P5;OFD1PY5;OFDYP5 APPROVED pseudo HGNC:23877 VALIDATED 1348587 OFD1 oral-facial-digital syndrome 1 This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq, Jul 2008] X X X p22 17869913 17904562 + 13733549 13787480 + 13715430 13769361 + 1580863;6480464;7240710;8554872;8699517 10441586;11076968;11179005;11734546;11950863;12221128;12477932;12595504;12782125;12852856;14654843;15466260;15489334;16169070;16397067;16462731;16712791;16783569;17761535;18029348;18177199;19023858;19783798;19800048;19913121;19946888;20230748;20301367;20301500;20301743;20628086;20736409;20818665;21139048;21729220;21890473;21906983;21963094;21987572;21988832;22353940;22548404;22619378;23033313;23036093;23398456;24255178;24691443;7759104;7790358;8125298;9215688;9722947 8481 A6NF31;A8K2T9;E9KL37;O75665 ABBA01071132;ABBA01071133;ABBA01071134;ABBA01071135;ABBA01071136;AC003037;AK225847;AK289677;AK290354;AK297104;AK311067;AMYH02038897;BC012324;BC030787;BC042830;BC052809;BC062432;BC092448;BC096344;BC096345;BC099658;BC099659;CB134304;CH471074;GU727634;NG_008872;NM_003611;XM_005274599;XM_005274600;XM_005274601;XM_005274602;XM_005274603;XM_005274604;XM_005274605;XM_005274606;XM_005274607;XM_005274609;XR_247288;Y15164;Y16355 AAH42830;AAH52809;AAH62432;AAH96344;AAH96345;ADU87636;BAF82366;BAF83043;BAG59615;CAA75436;CAA76185;EAW98835;EAW98836;EAW98837;EAW98838;EAW98839;EAW98840;EAW98841;NP_003602;O75665;XP_005274656;XP_005274657;XP_005274658;XP_005274659;XP_005274660;XP_005274661;XP_005274662;XP_005274663;XP_005274664;XP_005274666 Hs.6483 1658289;1701740 DXS1152;RH47405 71-7A;CXorf5;JBTS10;MGC117039;MGC117040;RP23;SGBS2 OTTHUMP00000022940;OTTHUMP00000022941;oral-facial-digital syndrome 1 protein;retinitis pigmentosa 23 (X-linked recessive) APPROVED protein-coding ENSG00000046651 HGNC:2567 02162 300170;300209;300424;300804;311200 REVIEWED 1605516 OFD1P4Y OFD1 pseudogene 4, Y-linked Y Y q11.221 20614936 20631145 - 18453050 18469259 - 12815422;9847074 386688 AC069130;AC073962;NG_004636 2187993;2188003;2189045;5022949;5022951;5116274 G65908;G66146;G66151;sY1741;sY1750;sY2861 OFD1P4;OFD1PY4;OFDYP4 APPROVED pseudo HGNC:23876 VALIDATED 1605513 OFD1P7Y OFD1 pseudogene 7, Y-linked Y Y q11.222 21010048 21029267 + 18848162 18867381 + 12815422 386691 AC009235;NG_004636 2187993;2188003;5022949;5022951;5116274 G66146;G66151;sY1741;sY1750;sY2861 OFD1P7;OFD1PY7;OFDYP7 APPROVED pseudo HGNC:23879 VALIDATED 1605512 OFD1P8Y OFD1 pseudogene 8, Y-linked Y Y Y q11.223 1 6687 - 24118358 24151831 + 21972211 22005684 + 12815422 386692 AC007322;NG_004755 OFD1P8;OFD1PY8;OFDYP8 APPROVED pseudo HGNC:23880 VALIDATED 1605514 OFD1P6Y OFD1 pseudogene 6, Y-linked Y Y Y q11.22 6942464 6947378 + 20835613 20900326 + 18673727 18738440 + 12815422 386690 AC007379;NG_004636 1672334;1731793;1732561;1753015;1790913;2164284;2181405;2187895;2188619;2188621;5021778;5021786;5022977;5116134;5116136;5116138;5116156;5116158;5125216 DYS132;DYS206;DYS207;DYS210;DYS385;G65936;G66361;G66363;SHGC-13965;SHGC-78789;sY1226;sY1950;sY1951;sY1967;sY1968;sY1969;sY1982;sY1983;sY1984 OFD1P2;OFD1P6;OFD1PY6;OFDYP6 APPROVED pseudo HGNC:13657 VALIDATED 1605511 OFD1P9Y OFD1 pseudogene 9, Y-linked Y Y Y q11.223 1 13168 - 24726854 24760330 - 22580707 22614183 - 12815422 386693 AC008175;NG_004755 1748369 G65830 OFD1P9;OFD1PY9;OFDYP9 APPROVED pseudo HGNC:23881 VALIDATED 1606222 OGFOD2 2-oxoglutarate and iron-dependent oxygenase domain containing 2 ENCODES a protein that exhibits iron ion binding (inferred); L-ascorbic acid binding (inferred); oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (inferred); INVOLVED IN oxidation-reduction process (inferred); INTERACTS WITH copper(2+) sulfate; testosterone enanthate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 q24.31 123052147 123057381 + 123459354 123464588 + 122974807 122980041 + 6480464 12477932;14702039;16169070;21507922;21906983;23974872 79676 F5H145;F5H890;Q6N063 ABBA01060439;AC026362;AK023553;AK094820;AK095481;AK303095;AMYH02027444;BC009181;BC015605;BC033857;BC047676;BC071172;BC098119;BC098293;BC101940;BC105637;BX640675;BX640734;CH471054;CR457316;NM_024623 AAH98119;AAH98293;AAI01941;AAI05638;BAB14610;BAG52936;BAG53066;BAG64205;CAE45807;CAE45849;CAG33597;EAW98364;EAW98365;EAW98366;EAW98367;EAW98368;EAW98369;EAW98370;EAW98371;EAW98372;NP_078899;Q6N063 Hs.524817 1762317;1766435;1771921;2176072;5107535 RH78153;SGC30324;SHGC-146164;SHGC-149768;STS-AA022496 DKFZp686H15154;FLJ13491;FLJ37501;MGC120434;MGC120436 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2;OTTHUMP00000239397;OTTHUMP00000239405 protein-coding ENSG00000111325 HGNC:25823 07829 PROVISIONAL 1602867 OGFOD3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 ENCODES a protein that exhibits iron ion binding (inferred); L-ascorbic acid binding (inferred); oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; formaldehyde 17 17 17 q25.3 76938858 76965271 - 80347086 80376513 - 82389210 82418637 - 6480464 12477932;19946888;21906983 79701 J3QLI8;J3QRG1;K7ELK1;K7ELR2;K7ENS7;Q6PK18 ABBA01019676;ABBA01019677;AC132938;AK025875;AK311057;AMYH02034155;AMYH02034156;AMYH02034157;BC008897;BC009297;BC023602;CH471099;NM_024648;NM_175902;NR_033265;XR_430034 AAH08897;AAH23602;BAB15267;EAW89769;EAW89770;NP_078924;NP_787098;Q6PK18 Hs.187505 1770603;2152086;2161387;2164185;2166306;2166734;5015404;5022651;5037552;5109281 D11S2921;D1S1425;D8S2279;L17705;RH36048;RH46330;RH48813;RH69745;SHGC-56624;SHGC-57268 C17orf101;FLJ22222 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3;PKHD domain-containing transmembrane protein C17orf101 APPROVED protein-coding ENSG00000181396 HGNC:26174 13386 VALIDATED 731998 ODF2 outer dense fiber of sperm tails 2 The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Alternative splicing results in multiple transcript variants. The longer transcripts, also known as 'Cenexins', encode proteins with a C-terminal extension that are differentially targeted to somatic centrioles and thought to be crucial for the formation of microtubule organizing centers. [provided by RefSeq, Oct 2010] 9 9 9 q34.11 101869240 101914039 + 131217434 131263571 + 128455155 128501292 + 6480464 10072582;10381817;11774369;12477932;14702039;15302935;16344560;16966375;16980960;17646400;18029348;19322201;19386263;20234188;20309963;20379614;21139048;21325031;21832049;21890473;21906983;22266860;22505724;22833046;22911743;23000965;23400999;23940030;9045620;9740324 4957 B3KSD5;B4DUU0;B4DX03;B4DX85;Q5BJF6;Q5T4C2;Q5T4C3;Q5T4C6;Q5T4C7;Q5T4C8;S4R3R9;S4R411;S4R462 ABBA01043882;ABBA01043883;AF012549;AF053970;AF109138;AK093367;AK126816;AK295662;AK299303;AK300793;AK301754;AK301842;AK301855;AK302684;AK308278;AK309917;AL359091;AL445287;AMYH02021715;AMYH02021716;AMYH02021717;AY319414;AY366499;BC010629;BC012785;BC091500;BI825445;BI831601;BM563800;BM928430;CH471090;DB044506;DB051583;DB094573;DB511337;DC397869;DC398295;DQ444713;DQ444714;NG_029568;NM_001242352;NM_001242353;NM_001242354;NM_002540;NM_153432;NM_153433;NM_153435;NM_153436;NM_153437;NM_153439;NM_153440;XM_005252010;XM_005252011;XM_005252012;XM_005252013;XM_005252014;XM_005252015;XM_005252016;XM_005252017;XM_005252018;XM_005252019;XM_005252020;XM_005252021;XM_005252022;XM_005252023;XM_005252024;XM_005252025;XM_005252026;XM_005252027;XM_005252028;XM_005252029;XM_005252030;XM_006717122;XM_006717123;XM_006717124;XM_006717125;XM_006717126;XM_006717127;XM_006717128 AAB66337;AAC08409;AAD22544;AAH10629;AAH12785;AAH91500;AAP83847;AAQ73195;ABE01856;ABE01857;ACE86758;ACE86768;ACE87454;BAG52697;BAG58524;BAG61316;BAG62452;BAG63215;BAG63285;BAG63297;BAG63914;EAW87791;EAW87792;EAW87793;EAW87794;EAW87795;EAW87796;EAW87797;EAW87798;EAW87799;EAW87800;EAW87801;NP_001229281;NP_001229282;NP_001229283;NP_002531;NP_702910;NP_702911;NP_702913;NP_702914;NP_702915;NP_702917;NP_702918;Q5BJF6;XP_005252067;XP_005252068;XP_005252069;XP_005252070;XP_005252071;XP_005252072;XP_005252073;XP_005252074;XP_005252075;XP_005252076;XP_005252077;XP_005252078;XP_005252079;XP_005252080;XP_005252081;XP_005252082;XP_005252083;XP_005252084;XP_005252085;XP_005252086;XP_005252087;XP_006717185;XP_006717186;XP_006717187;XP_006717188;XP_006717189;XP_006717190;XP_006717191 Hs.129055 1656787 STS-AA034010 CT134;FLJ44866;MGC111096;MGC9034;ODF2/1;ODF2/2;ODF84 OTTHUMP00000022274;OTTHUMP00000022275;OTTHUMP00000022276;cancer/testis antigen 134;cenexin 1;outer dense fiber of sperm tails protein 2;outer dense fiber of sperm tails, 84-kD;outer dense fiber protein 2;outer dense fibre of sperm tails 2;sperm outer dense fiber major protein 2;sperm tail structural protein APPROVED protein-coding ENSG00000136811 HGNC:8114 03601 602015 REVIEWED 1322096 OGDHL oxoglutarate dehydrogenase-like ENCODES a protein that exhibits metal ion binding (inferred); oxoglutarate dehydrogenase (succinyl-transferring) activity (inferred); thiamine pyrophosphate binding (inferred); INVOLVED IN glycolytic process (inferred); tricarboxylic acid cycle (inferred); PARTICIPATES IN citric acid cycle pathway; lysine degradation pathway; tryptophan metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 10 10 10 q11.23 44528687 44557024 - 50942687 50970425 - 49734641 49762379 - 737633;1580863;6480464;6907045;8554872 12477932 10574462;14702039;15342556;16344560;16385451;18004749;19724895;19851296;20198315;20877624;21139048;21988832;23152800;23455924;24147044;24654937;8125298 55753 Q9ULD0 AB033116;ABBA01041068;ABBA01041069;ABBA01041070;AC069546;AK001713;AK055817;AK225558;AK290226;AK296551;AK303729;AK307759;AMYH02022987;AMYH02022988;BC026320;BM504223;BP209348;BQ549806;CH471187;DA238469;DA411851;DA416844;HH961822;NM_001143996;NM_001143997;NM_018245 AAH26320;ADZ15534;BAA86604;BAA91855;BAF82915;BAG59174;BAG64705;CBX51384;EAW93080;EAW93081;EAW93082;NP_001137468;NP_001137469;NP_060715;Q9ULD0 Hs.17860 1339984;1654940;1660360 D10S1724;RH44536;STS-T96627 2-oxoglutarate dehydrogenase complex component E1-like;2-oxoglutarate dehydrogenase-like, mitochondrial;OGDC-E1-like;OTTHUMP00000019588;alpha-ketoglutarate dehydrogenase-like protein-coding ENSG00000197444 HGNC:25590 07704 VALIDATED 7242850 OGFR-AS1 OGFR antisense RNA 1 20 20 q13.33 61431979 61436939 - 62800627 62805587 - 8889548 101409261 ABBA01021370;ABBA01021371;AL035669;AMYH02037439;CA412981;HG511530;NG_033957;NR_102430 Hs.593952 RP5-885L7.11 ncrna ENSG00000229873 HGNC:40724 VALIDATED 737296 OGFR opioid growth factor receptor The protein encoded by this gene is a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is a negative regulator of cell proliferation and tissue organization in a variety of processes. The encoded unbound receptor for OGF has been localized to the outer nuclear envelope, where it binds OGF and is translocated into the nucleus. The coding sequence of this gene contains a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts containing between zero and eight repeat units have been reported. [provided by RefSeq, Jul 2008] 20 20 20 q13.3 58111807 58120974 + 61436156 61445352 + 62804825 62814000 + 1580863;6480464 10677613;10974024;11214971;11780052;11890982;12477932;12650964;12938929;14702039;15489334;16159877;16685459;16820893;17081983;17273790;18636152;18923142;19244545;19297547;19471022;19675283;19835629;19923357;21044950;21139048;21252943;21890473;21906983;21963094;22328595;22505724;22863883;22939629;23000965;23856908;24457600;24816145 11054 Q4VXW3;Q9NZT2 ABBA01021371;AF109134;AF112980;AF172449;AF172450;AF172451;AF172452;AF172453;AK022234;AK024485;AK314696;AL035669;AMYH02037439;AMYH02037440;BC008768;BC014137;BC032666;BM551600;CH471077;NG_033957;NM_007346 AAD03737;AAD03745;AAF64402;AAF64403;AAF64404;AAF64405;AAF64406;AAH08768;AAH14137;AAH32666;ABM83869;ABW03524;BAB15775;BAG51068;EAW75335;EAW75336;EAW75337;EAW75338;EAW75339;EAW75340;EAW75341;NP_031372;Q9NZT2 Hs.67896 1339626 D19S876 7-60 protein;OTTHUMP00000031503;OTTHUMP00000031504;OTTHUMP00000031505;protein 7-60;zeta-type opioid receptor APPROVED protein-coding ENSG00000060491 HGNC:15768 08404 606459 REVIEWED 1605373 OGFOD1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 ENCODES a protein that exhibits peptidyl-proline 3-dioxygenase activity; peptidyl-proline dioxygenase activity; INVOLVED IN cell proliferation; peptidyl-proline hydroxylation; protein hydroxylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; cytoplasmic stress granule; nucleus; INTERACTS WITH 17beta-estradiol; afimoxifene; cadmium atom 16 16 16 q12.2 40983443 41009426 + 56485424 56511407 + 56451512 56477495 + 6480464;8554872 10997877;12477932;14702039;18029348;20154146;20579638;21139048;21252943;21693764;21890473;21906983;21963094;22863883;22990118;23000965;24550447;24654937;24816145 55239 H3BP48;H3BR02;H3BR79;H3BUA6;J3KNR5;Q8N543 AB046832;ABBA01025246;AC092140;AK001688;AK022130;AK022752;AK024314;AK304584;AL711389;AMYH02032088;BC032919;CH471092;NM_018233 AAH32919;BAA91838;BAB13438;BAB13967;BAB14226;BAB14880;BAG65372;EAW82861;EAW82862;NP_060703;Q8N543 Hs.231883 1678409;1723071;1849260;2171376;5037552;5109281 D1S1425;D8S2279;RH121887;RH65188;SHGC-30074;SHGC-60845 FLJ10826;KIAA1612;TPA1 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 1;OTTHUMP00000164314;TPA1, termination and polyadenylation 1, homolog;prolyl 3-hydroxylase OGFOD1;termination and polyadenylation 1 homolog protein-coding HGNC:25585 08553 615857 VALIDATED 4889285 OGFOD1P1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 pseudogene 1 13 13 13 q14.2 30840234 30842307 - 49784350 49786423 - 49210214 49212287 - 387924 ABBA01051015;AL137000;AMYH02028010;NG_011397 2171370 WI-14349 KIAA0970 pseudo HGNC:39202 INFERRED 8656341 OGFRP1 opioid growth factor receptor pseudogene 1 22 22 22 q13.2 26472006 26477115 + 42665759 42670868 + 42269753 42274862 + 12477932;20889312 388906 ABBA01055668;ABBA01055669;AMYH02038457;AMYH02038458;BC039496;BX247885;CH471095;NR_036498;Z83851 AAH39496;EAW60499 Hs.730075 pseudo ENSG00000182057 HGNC:50511 VALIDATED 1353072 OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009] 7 7 7 p14-p13 44744966 44847513 + 44646104 44748669 + 44606522 44709070 + 1580863;2306878;2306877;6480464;6907045;7240710;8699517;8554872 10672230;9712727 12477932;1542694;15466852;15649899;16009940;16189514;16344560;17000644;17343268;17370265;17456239;18029348;18781797;19615732;20877624;21139048;21611730;2188967;21890473;22169199;22939629;23475850;23874603;24147044;24654937;24816145;7622061;8020988;8889548;9727038;9847074 4967 B4E3E9;C9J4G7;E9PCR7;E9PDF2;E9PFG7;Q02218 ABBA01058224;ABBA01058225;ABBA01058226;ABBA01058227;ABBA01058228;AC004859;AC011894;AI244565;AK293871;AK294951;AK296400;AK302805;AK304439;AK304690;AK314179;AMYH02015625;AMYH02015626;AMYH02015627;AU140451;BC004964;BC009580;BC014617;BC128549;BC128550;BM998792;BU682361;CH236960;CH471128;D10523;D32064;DC401267;DQ925674;NG_023260;NM_001003941;NM_001165036;NM_002541;XM_005249759;XM_005249761 AAH04964;AAH09580;AAH14617;AAI28550;AAI28551;AAQ96884;AAQ96885;ABL59901;ABM82806;ABW03449;BAA01393;BAA06836;BAG57261;BAG58026;BAG59067;BAG64007;BAG65261;BAG65461;EAW61086;EAW61087;EAW61088;EAW61089;NP_001003941;NP_001158508;NP_002532;Q02218;XP_005249816;XP_005249818 Hs.488181 1334655;1648585;1665140;1786370;1852085;2127659;2131685;2158934;2177868;2179236;2186467;5015961;5022322;5037552;5491645;7183766 D11S2560;D15S1477;D7S2068E;D7S2436;D7S2643;D8S2279;GDB:1317390;GDB:1318360;GDB:4585311;MARC_4335-4336:996679558:1;RH11783;RH70029;SHGC-171927;STS-AA005110;STS-T70286 AKGDH;E1k;OGDC 2-oxoglutarate dehydrogenase complex component E1;2-oxoglutarate dehydrogenase, mitochondrial;OGDC-E1;OTTHUMP00000207703;OTTHUMP00000207704;OTTHUMP00000207705;OTTHUMP00000207706;OTTHUMP00000207707;OTTHUMP00000207708;alpha-ketoglutarate dehydrogenase;oxoglutarate decarboxylase;oxoglutarate dehydrogenase (lipoamide);oxoglutarate dehydrogenase (succinyl-transferring) APPROVED protein-coding ENSG00000105953 HGNC:8124 08938 203740;613022 REVIEWED 1345771 OIP5 Opa interacting protein 5 INVOLVED IN CENP-A containing nucleosome assembly (inferred); mitotic nuclear division (inferred); nucleosome assembly (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Cajal body; chromatin; cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 15 15 15 q15.1 18369443 18392796 - 41601466 41624819 - 41309268 41332621 - 1580863;6480464;8554872 12477932;12620389;15489334;17199038;17284516;20510019;21139048;21906983;21988832;22129094;23292864;23455924;24250222;24269809;24519934;9466265 11339 H0YKL4;O43482 ABBA01038415;ABBA01038416;AC012652;AC087721;AF025441;AMYH02030268;BC015050;CH471125;NM_007280 AAC39561;AAH15050;EAW92480;EAW92481;NP_009211;O43482 Hs.661645 1709860;1854138;2108329 A009U10;OIP5_9267;SHGC-84758 5730547N13Rik;CT86;LINT-25;MIS18B;MIS18beta;OIP-5;hMIS18beta LAP2alpha interactor-25;MIS18 kinetochore protein homolog B;OTTHUMP00000160744;cancer/testis antigen 86;opa-interacting protein 5;protein Mis18-beta protein-coding ENSG00000104147 HGNC:20300 09352 606020 PROVISIONAL 1318300 OGFRL1 opioid growth factor receptor-like 1 ENCODES a protein that exhibits receptor activity (inferred); FOUND IN membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-azacytidine 6 6 6 q13 72387075 72400570 + 71998477 72013267 + 71288774 71308950 + 6480464 12477932;14702039 79627 Q5TC84 ABBA01040281;ABBA01040282;AK024732;AK124833;AL136164;AL137346;AMYH02013880;BC018688;BC110999;BX420584;CH471051;NM_024576;XM_005248765 AAH18688;AAI11000;BAB14980;EAW48802;EAW48803;NP_078852;Q5TC84;XP_005248822 Hs.648434;Hs.656091 1676266;1851394;1855235;2171729;2185237;5015619;5015861;5024039;5037552;7185938 D10S16;D11S3114;D16S325;D8S2279;RH35909;RH98996;WI-11437;WI-11606;WI-14294 FLJ21079;MGC102783;dJ331H24.1 OTTHUMP00000016711;opioid growth factor receptor-like protein 1 protein-coding ENSG00000119900 HGNC:21378 14875 VALIDATED 1317793 OGN osteoglycin This gene encodes a protein which induces ectopic bone formation in conjunction with transforming growth factor beta. This protein is a small proteoglycan which contains tandem leucine-rich repeats (LRR). Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q22 65588282 65608970 - 95146249 95166976 - 92383967 92404655 - 6480464 10373482;10656267;10802664;10828622;10931946;11076863;11230166;11256614;12477932;12533723;13679028;15164053;15340161;15489334;15489336;16189248;16303743;16381901;17474147;17895523;18243607;19453261;19913121;20360993;20379614;20628086;2326263;23714241;2372374;24651681 4969 A8K0R3;B4DI63;P20774;Q5TBF5;Q7Z532 ABBA01018585;AF086912;AF088023;AF100758;AF112465;AF173383;AF192478;AF192483;AF202167;AI424992;AK075521;AK129845;AK289628;AK295433;AL110267;AL133114;AL137848;AMYH02021221;AX616337;BC037273;BC095443;BG772245;BX646984;CH471089;CR533516;NM_014057;NM_033014 AAD40453;AAD43022;AAF19364;AAF69109;AAH37273;AAH95443;AAP97142;AAQ13624;ABM82153;ABM85338;BAF82317;BAG52162;BAG58375;CAB53706;CAB61417;CAD67633;CAG38547;CAL37691;CAL37820;EAW62818;EAW62819;EAW62820;NP_054776;NP_148935;P20774 Hs.109439 1657427;1689025;2108327;2159005 OGN_8519;RH16376;RH36468;RH80964 DKFZp586P2421;OG;OIF;SLRR3A OTTHUMP00000021650;OTTHUMP00000021651;corneal keratan sulfate proteoglycan;mimecan;mimecan proteoglycan;osteoglycin (osteoinductive factor, mimecan);osteoinductive factor APPROVED protein-coding ENSG00000106809 HGNC:8126 03856 602383 REVIEWED 1345970 OIT3 oncoprotein induced transcript 3 ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; paracetamol 10 10 10 q22.1 67938478 67977926 + 74653339 74692787 + 72893556 72933137 + 1302862;1580863;6480464 12939600 12477932;12975309;14702039;15589826;18830570 170392 Q8WWZ8 ABBA01020345;AC069548;AF075085;AK096435;AMYH02023327;AY013707;AY358339;BC126440;CH471083;CS300502;NM_152635;XM_006717658 AAG40096;AAI26441;AAQ88705;BAC04788;CAK32166;EAW54463;NP_689848;Q8WWZ8;XP_006717721 Hs.8366 1336183;1339722;1662601;1690850 D10S1146;D10S1432;RH70386;RH81037 FLJ39116;LZP OTTHUMP00000019791;liver-specific ZP domain-containing protein;liver-specific zona pellucida domain-containing protein;oncoprotein-induced transcript 3 protein protein-coding ENSG00000138315 HGNC:29953 17660 609330 PROVISIONAL 7242162 OLA1P1 Obg-like ATPase 1 pseudogene 1 22 22 22 q13.2 26309556 26311315 - 42503354 42505113 - 42107350 42109109 - 246785 ABBA01055662;AL021878;AMYH02038455;NG_001589 pseudo HGNC:45274 INFERRED 1604016 OLA1 Obg-like ATPase 1 ENCODES a protein that exhibits ATP binding; INVOLVED IN ATP catabolic process; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 2 2 2 q31.1 168550691 168726869 - 174937175 175113365 - 174072447 174248637 - 6480464;8554872 11230166;11256614;12477932;14702039;15489334;15635413;16147992;16169070;17353931;17430889;18536999;18850631;19056867;19706404;19738201;19882753;19946888;20053727;20379614;21139048;21890473;21906983;22145905;22190034;22863883;22939629;22952844;23000965;23412384;23667531;23824909;24289923;24486488;24778252;25015289;8125298 29789 C9JCJ9;C9JTK6;J3KQ32;Q9NTK5 ABBA01062183;ABBA01062184;ABBA01062185;ABBA01062186;AC013467;AC016737;AF078859;AF078868;AF116703;AF134478;AK027523;AK074710;AK225112;AK225138;AK296339;AL136546;AL833441;AMYH02005266;AMYH02005267;AMYH02005268;BC012842;BC013925;BC029376;BC068447;BC091522;CH471058;CQ782638;DQ250006;NM_001011708;NM_013341 AAD44491;AAD44500;AAF71123;AAH12842;AAH13925;AAH29376;AAH91522;AAP97255;AAY14779;AAY14876;ABB72766;BAB55174;BAC11153;BAG59026;CAB66481;CAF85894;EAX11149;EAX11150;EAX11151;NP_001011708;NP_037473;Q9NTK5 Hs.157351 1341331;1648875;1669208;1705962;1721997;1856712;2109705;2143044;2149592;2189525 D2S1274;D2S1299;D2S2655;D2S2677;G59884;PTD004_9588;RH143639;RH48122;SHGC-31842;SHGC-79690 DKFZp313H1942;DOC45;GBP45;GTBP9;GTPBP9;PTD004 DNA damage-regulated overexpressed in cancer 45 protein;GTP-binding protein 9 (putative);GTP-binding protein PTD004;OTTHUMP00000163173;OTTHUMP00000205066;OTTHUMP00000205067;OTTHUMP00000205070;homologous yeast-44.2 protein protein-coding ENSG00000138430 HGNC:28833 15194 611175 VALIDATED 7242161 OLA1P3 Obg-like ATPase 1 pseudogene 3 12 12 56263811 56266386 - 55870027 55872602 - 101060020 ABBA01008393;AC023055;AMYH02026553 pseudo HGNC:45278 MODEL 733478 OLFM1 olfactomedin 1 This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 108481187 108526613 + 137967089 138013030 + 135075243 135121184 + 1580863;6480464;8554872 12477932;14702039;15489334;16335952;16344560;17043677;20029029;20379614;21832049;21968811;22095909;23251661;8619474;9039501;9110174 10439 F5GZQ2;F5H810;F8W870;H0YFB9;Q5VZL8;Q6IMJ6;Q6IMJ7;Q6IMJ8;Q99784 ABBA01030019;ABBA01030020;ABBA01030021;ABBA01030022;AF035301;AI656802;AK090818;AK096304;AK289719;AK289921;AK290478;AL159992;AL390778;AMYH02021861;AMYH02021862;AMYH02021863;AMYH02021864;BC000189;BC008763;BC011741;BC015437;BK001427;BT007146;BU078731;BX419781;BX461034;CH471090;D82343;DA483071;DA795630;DB069120;DN993130;NM_001282611;NM_001282612;NM_006334;NM_014279;U79299 AAB50225;AAB88184;AAH00189;AAH08763;AAH11741;AAH15437;AAP35810;ADZ15507;BAA11554;BAC04756;BAF82408;BAF82610;BAF83167;BAG52234;DAA01545;DAA01546;DAA01547;DAA01548;DAA01549;EAW88142;EAW88143;EAW88144;EAW88145;NP_001269540;NP_001269541;NP_006325;NP_055094;Q99784 Hs.522484 1656069;1656809;1735950;1740159;1764137;1764633;1765151;1771954;1793978;2158888;2179180;5094192 D9S1017E;D9S1074E;D9S1770;G54602;PMC310711P2;SHGC-147780;SHGC-148221;SHGC-148670;SHGC-2407;SHGC-63472;SHGC-63473;WI-16144 AMY;NOE1;NOELIN1;OlfA OTTHUMP00000022526;OTTHUMP00000022527;OTTHUMP00000022528;OTTHUMP00000022529;OTTHUMP00000237766;neuroblastoma protein;neuronal olfactomedin-related ER localized protein;noelin;olfactomedin related ER localized protein;olfactomedin-1;pancortin 1 APPROVED protein-coding ENSG00000130558 HGNC:17187 09249 605366 REVIEWED 1320243 OLFM2 olfactomedin 2 INVOLVED IN protein secretion; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); C60 fullerene (ortholog) 19 19 19 p13.2 9859823 9942535 - 9964394 10047070 - 9853718 9936394 - 1580863;6480464;8554872 12477932;12766061;15057824;15123989;15489334;16169070;17122126;21102462;21988832;8619474;9110174 93145 K7EIS8;K7EKW2;K7ELC6;O95897 ABBA01029958;ABBA01029959;ABBA01029960;ABBA01029961;ABBA01029962;AC008742;AC008752;AF131839;AMYH02035476;AMYH02035477;AMYH02035478;AMYH02035479;AMYH02035480;AMYH02035481;BC011361;BK001428;CH471106;NM_058164;XM_005260152 AAD20056;AAH11361;ABM82009;ABM85191;DAA01550;EAW84060;NP_477512;O95897;XP_005260209 Hs.169743 1775693;2165873;2172133;2191801;5094901 D19S1061;MARC_7983-7984:996688212:1;OLFM2;RH47787;RH47931 NOE2;NOELIN2;NOELIN2_V1;OlfC neuronal olfactomedin related ER localized protein 2;noelin 2;noelin-2;olfactomedin-2 protein-coding ENSG00000105088 HGNC:17189 10127 PROVISIONAL 1323306 OLFM4 olfactomedin 4 This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. This gene encodes a member of the olfactomedin family. The encoded protein is an antiapoptotic factor that promotes tumor growth and is an extracellular matrix glycoprotein that facilitates cell adhesion. [provided by RefSeq, Mar 2011] 13 13 13 q14.3 34589022 34612243 + 53602876 53626196 + 53028741 53052061 + 6480464;8554872 11302958;11867215;12477932;12975309;16344560;16566923;17650212;18281536;18798264;19056867;19450592;19670418;20724538;20878207;21048224;21067260;21270618;21415212;21470957;21832049;21904905;21986994;22011044;22187488;22398066;22471589;22484627;22658931;22844115;23251661;23563607;23570326;24070418;24529757;2824652 10562 Q6UX06 ABBA01037064;AF097021;AI560739;AK000683;AK300947;AL390736;AMYH02028053;AY358567;BC047740;BC117329;CH471124;DA928098;NM_006418 AAC72970;AAH47740;AAI17330;AAQ88930;ADR83035;BAG62576;EAW52052;EAW52053;NP_006409;Q6UX06 Hs.508113 1674005;1851440;2108849 A002P14;OLFM4_9141;RH66409 GC1;GW112;KIAA4294;OLM4;OlfD;UNQ362;bA209J19.1;hGC-1;hOLfD G-CSF-stimulated clone 1 protein;OTTHUMP00000018468;antiapoptotic protein GW112;olfactomedin-4 APPROVED protein-coding ENSG00000102837 HGNC:17190 06580 614061 REVIEWED 5552939 OIP5-AS1 OIP5 antisense RNA 1 INTERACTS WITH paracetamol; valproic acid 15 15 15 q15.1 18344179 18359773 + 41574892 41598732 + 41284003 41299597 + 6480464 12477932;14702039;22196729;8619474;9110174 729082 ABBA01038416;ABBA01038417;ABBA01038418;AC012652;AK092575;AK172729;AMYH02030267;AMYH02030268;AY007106;BC016329;BC037835;BC037888;BC047377;BC067230;BX647764;BX648343;NR_026757 Hs.380164;Hs.732001 1652001;1660177;1666063;1847874;1857568;2152560;2155613;5015961;5022578;5022651;5113709 A008R24;D11S2921;D15S1273;D15S1477;D15S615E;D1S1423;RH44572;RH45676;RH69915;SGC33689;WI-17591 cyrano APPROVED ncrna HGNC:43563 PREDICTED 1323220 OLFML2A olfactomedin-like 2A ENCODES a protein that exhibits extracellular matrix binding (inferred); protein homodimerization activity (inferred); INVOLVED IN extracellular matrix organization (inferred); FOUND IN extracellular matrix (inferred); extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; arsenous acid; diarsenic trioxide 9 9 9 q33.3 98187326 98225048 + 127539435 127577161 + 124777158 124814891 + 737633;1580863;6480464 12477932 12975309;14702039;16344560;19850743;21832049;22913984 169611 Q5JTM7;Q68BL7 AB119055;ABBA01043754;ABBA01043755;AI141934;AK074164;AK074709;AK092255;AL050002;AL354928;AMYH02021634;AMYH02021635;AY191222;AY358185;BC011693;BC013281;BC054001;CH471090;DA727926;NM_001282715;NM_182487;XM_005251759;XM_005251760;XM_006716989 AAH54001;AAP20104;AAQ88552;BAB84990;BAD38864;EAW87596;EAW87597;NP_001269644;NP_872293;Q68BL7;XP_005251816;XP_005251817;XP_006717052 Hs.357004 1674873;1682355;1729890;5015961;5022578;5037552 D15S1477;D1S1423;D8S2279;D9S117;D9S1976;RH94027 FLJ00237;PRO34319 OTTHUMP00000022114;olfactomedin-like protein 2A;photomedin-1 protein-coding ENSG00000185585 HGNC:27270 14876 615899 VALIDATED 1323529 OLFML1 olfactomedin-like 1 FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; fonofos 11 11 11 p15.4 7625730 7651738 + 7506600 7533128 + 7485369 7511897 + 6480464 12477932;12975309;15340161;15489334;16344560;18708057 283298 E9PKN7;E9PN44;Q5HYE3;Q6UWY5 ABBA01028680;AC107884;AK297778;AK298137;AMYH02024281;AY358591;BC035895;BC092488;BX647908;CH471064;DB257515;DC397336;NM_198474;XM_005252878 AAH35895;AAH92488;AAQ88954;BAG60123;BAG60415;CAI46097;EAW68655;EAW68656;EAW68657;EAW68658;NP_940876;Q6UWY5;XP_005252935 Hs.503500 1726527;1779732;2165053 G62644;RH66484;SHGC-153704 UNQ564 MVAL564;OTTHUMP00000230068;OTTHUMP00000230069;OTTHUMP00000230072;olfactomedin-like protein 1 protein-coding ENSG00000183801 HGNC:24473 17661 VALIDATED 1352519 OLAH oleoyl-ACP hydrolase ENCODES a protein that exhibits hydrolase activity, acting on ester bonds (inferred); myristoyl-[acyl-carrier-protein] hydrolase activity (inferred); oleoyl-[acyl-carrier-protein] hydrolase activity (inferred); INVOLVED IN biosynthetic process (inferred); fatty acid biosynthetic process (inferred); PARTICIPATES IN fatty acid biosynthetic pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; calcitriol; copper atom 10 10 10 p13 15014547 15044484 + 15085895 15115851 + 15043896 15073852 + 1580863;6480464;6907045 12477932;14702039;15489334;16385451;17082220;17207965 55301 Q5VUB8;Q5VUB9;Q5VUC0;Q5VUC1;Q9NV23 ABBA01034600;ABBA01034601;AK001844;AK001968;AL590365;AMYH02022205;AX877658;BC050372;BG281536;BG722790;BI830605;BR000403;CH471072;NM_001039702;NM_018324;XM_006717456 AAH50372;ADQ33115;BAA91937;BAA92007;CAE89822;EAW86244;EAW86245;FAA00320;NP_001034791;NP_060794;Q9NV23;XP_006717519 Hs.24309 1731062;1731092;5014051;5021872;5022651 D10S280;D10S296;D11S2921;D8S2278;sY3084 AURA1;FLJ11106;MGC51852;SAST;THEDC1 OTTHUMP00000019191;OTTHUMP00000019192;OTTHUMP00000019194;OTTHUMP00000019195;S-acyl fatty acid synthase thioesterase, medium chain;augmented in rheumatoid arthritis 1;thioesterase II;thioesterase domain containing 1;thioesterase domain-containing protein 1 protein-coding ENSG00000152463 HGNC:25625 07731 VALIDATED 1351843 OLFR@ olfactory receptor cluster 4972 HGNC:8131 1322385 OLFML3 olfactomedin-like 3 INVOLVED IN multicellular organismal development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN vesicle; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 p13.2 112751267 112754112 + 114522030 114524875 + 113979391 113982254 + 6480464;8554872 12477932;12975309;14702039;15280020;15342556;15489334;16169070;16289162;16303743;16710414;20467438;23251661;23398349;8125298 56944 B4DNG0;M1LAK4;Q9NRN5 ABBA01068459;AF201945;AI559543;AK075353;AK075369;AK075479;AK075544;AK092766;AK222471;AK223221;AK297902;AL731797;AMYH02001780;AY358954;AY464015;BC009920;BP201458;CH471122;CS051143;CS051313;KC237062;NM_001286352;NM_001286353;NM_020190;XM_006710778 AAF86881;AAH09920;AAQ89313;AAR88262;ABM83707;ABM87027;AGF36554;BAC11564;BAC11644;BAC11687;BAD96191;BAD96941;BAG60222;CAI72067;CAI72151;EAW56594;EAW56595;NP_001273281;NP_001273282;NP_064575;Q9NRN5;XP_006710841 Hs.9315 1849197;2126875;2190919 MARC_11517-11518:1001089492:1;SHGC-16738;SHGC-31969 HNOEL-iso;OLF44;hOLF44 OTTHUMP00000013761;olfactomedin-like protein 3 protein-coding ENSG00000116774 HGNC:24956 14878 610088 VALIDATED 735294 OLFM3 olfactomedin 3 INVOLVED IN eye photoreceptor cell development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (inferred); cell junction (inferred); extracellular space (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene 1 1 1 p22 100531779 100726446 - 102268126 102462790 - 101802567 101997234 - 6480464;8554872 12019210;12477932;12975309;14702039;15489334;16115881;16344560;18519826;20379614;21832049;22281030;24351856 118427 B3KTG9;Q6IMJ0;Q96PB7 ABBA01045420;ABBA01045421;AF397392;AF397393;AF397394;AF397395;AF397396;AF397397;AK095551;AK095724;AK300870;AL356280;AL359760;AMYH02001572;AMYH02001573;AMYH02001574;AY358722;BC022531;BK001429;CH471097;DA406512;DA528521;HY346025;NM_001288821;NM_001288823;NM_058170;NR_110210;NR_110211;NR_110212;XM_005270434 AAH22531;AAK97473;AAK97474;AAK97475;AAK97476;AAK97477;AAK97478;AAQ89084;ABW03310;BAG53081;BAG53115;BAH13362;DAA01551;DAA01552;DAA01553;DAA01554;DAA01555;DAA01556;EAW72921;EAW72922;EAW72923;NP_001275750;NP_001275752;NP_477518;Q96PB7;XP_005270491 Hs.484475 1692110;1692564 AL033695;AL033929 NOE3 OTTHUMP00000012613;OTTHUMP00000012614;noelin 3;noelin-3;noelin3;noelin3_V1;noelin3_V2;noelin3_V3;noelin3_V4;noelin3_V5;noelin3_V6;olfactomedin related ER localized protein 3;olfactomedin-3;optimedin protein-coding ENSG00000118733 HGNC:17990 607567 VALIDATED 1314358 OLIG3 oligodendrocyte transcription factor 3 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); RNA polymerase II transcription corepressor activity (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); spinal cord motor neuron cell fate specification (inferred); spinal cord motor neuron migration (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); benzo[a]pyrene; fonofos 6 6 6 q23.3 138553474 138555669 - 137813336 137815531 - 137492199 137494394 - 6480464 11091082;12477932;14516699;14574404;14702039;15489334;15769945;17982456;18029348;18794853;19879194;20353580;20439292;20453841;20549515;20921970;21833088;22379092;23400010 167826 Q7RTU3 ABBA01025818;AK096362;AL023580;AMYH02014569;BC051352;BK000141;CH471051;NM_175747 AAH51352;ABZ92416;BAC04768;DAA00303;EAW47930;NP_786923;Q7RTU3 Hs.195398 2219232 OLIG3__6109 Bhlhb7;bHLHe20;oligo3 OTTHUMP00000017288;class B basic helix-loop-helix protein 7;class E basic helix-loop-helix protein 20 protein-coding ENSG00000177468 HGNC:18003 17662 609323 PROVISIONAL 1353911 OGG1 8-oxoguanine DNA glycosylase This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008] 3 3 3 p26.2 9726330 9743054 + 9791628 9829468 + 9749944 9787790 + 1600295;1578408;1580863;2317134;2317128;2317132;2317140;2317133;2317130;2317136;2317139;2317137;2317150;6480464;6907045;7240710;8657371;8657373;8657376;8657149;8657154;8657155;8657139;8657368;8657395;8657369;8699517;8657147;8657370;8657148;8657146;8657403;8657406;8657157;8657142;8657375;8657377;8657400;8657137;8657138;8657379;8657378;8554872;8657152;8657158;8657136;8657140;8657151;8657372;8657374;8657144;8657156;8657150;8657153 10987279;11260864;11536371;11866974;12003641;12531391;14600440;14633694;14716324;15466987;15677345;15841414;16024598;16221808;16492928;16614128;17230526;17920569;17932460;18218111;18295498;18559563;18599524;18676009;18977234;19265534;19266243;19789535;19914098;20183911;20564624;21153698;21465496;21727658;22081374;22110223;22271435;22306120;22436579;22544315;23053977;23499241;24076439;24395279;24599382;24606430;24649009;24698998 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4968 E5KPM5;E5KPM6;E5KPM7;E5KPM8;E5KPM9;E5KPN0;E5KPN1;F8WCZ9;H7BXZ1;H7BZM3;H7C0A1;H7C1D7;H7C1V7;O15527 AB000410;AB019528;AB019529;AB019530;AB019531;AB019532;AB037878;AB037879;AB037880;AB037881;AB037882;ABBA01020400;AC022382;AF003595;AF026691;AF088282;AF521807;AJ131341;AK289858;AMYH02006236;AW614399;BC000657;BM847736;CH471055;HQ205506;HQ205507;HQ205508;HQ205509;HQ205510;HQ205511;HQ205512;HQ205513;HQ205514;HQ205515;HQ205516;HQ205517;HQ205518;HQ205519;HQ205520;HQ205521;HQ205522;HQ205523;HQ205524;HQ205525;HQ205526;HQ205527;HQ205528;HQ205529;HQ205530;HQ205531;HQ205532;HQ205533;HQ205534;HQ205535;HQ205536;HQ205537;HQ205538;HQ205539;HQ205540;HQ205541;HQ205542;HQ205543;HQ205544;HQ205545;NG_012106;NM_002542;NM_016819;NM_016820;NM_016821;NM_016826;NM_016827;NM_016828;NM_016829;U88527;U88620;U96710;XM_005265185;Y11731;Y11838;Y13277 AAB61340;AAB68614;AAB68615;AAB81132;AAB84013;AAD41680;AAD41681;AAD41682;AAH00657;AAM74236;ABM87106;ABW03843;ADQ20117;ADQ20118;ADQ20119;ADQ20120;ADQ20121;ADQ20122;ADQ20123;ADQ20124;ADQ20125;ADQ20126;ADQ20127;ADQ20128;ADQ20129;ADQ20130;ADQ20131;ADQ20132;ADQ20133;ADQ20134;ADQ20135;ADQ20136;ADQ20137;ADQ20138;ADQ20139;ADQ20140;ADQ20141;ADQ20142;ADQ20143;ADQ20144;ADQ20145;ADQ20146;ADQ20147;ADQ20148;ADQ20149;ADQ20150;ADQ20151;ADQ20152;ADQ20153;ADQ20154;ADQ20155;ADQ20156;ADQ20157;ADQ20158;ADQ20159;ADQ20160;ADQ20161;ADQ20162;ADQ20163;ADQ20166;ADQ20167;ADQ20168;ADQ20169;ADQ20170;ADQ20171;ADQ20172;ADQ20173;ADQ20174;ADQ20175;ADQ20176;ADQ20177;ADQ20178;ADQ20179;ADQ20180;ADQ20181;ADQ20182;ADQ20183;ADQ20184;ADQ20185;ADQ20186;ADQ20187;ADQ20188;ADQ20189;ADQ20190;ADQ20191;ADQ20192;ADQ20193;ADQ20194;ADQ20195;ADQ20196;ADQ20197;ADQ20198;ADQ20199;ADQ20200;ADQ20201;ADQ20202;ADQ20203;ADQ20204;ADQ20205;ADQ20206;ADQ20207;ADQ20208;ADQ20209;ADQ20210;ADQ20211;ADQ20212;ADQ20215;ADQ20216;ADQ20217;ADQ20218;ADQ20219;ADQ20220;ADQ20221;ADQ20222;ADQ20223;ADQ20224;ADQ20225;ADQ20226;ADQ20227;ADQ20228;ADQ20229;ADQ20230;ADQ20231;ADQ20232;ADQ20233;ADQ20234;ADQ20235;ADQ20236;ADQ20237;ADQ20238;ADQ20239;ADQ20240;ADQ20241;ADQ20242;ADQ20243;ADQ20244;ADQ20245;ADQ20246;ADQ20247;ADQ20250;ADQ20251;ADQ20252;ADQ20253;ADQ20254;ADQ20257;ADQ20258;ADQ20259;ADQ20260;ADQ20261;ADQ20262;ADQ20263;ADQ20264;ADQ20265;ADQ20266;ADQ20267;ADQ20268;ADQ20269;ADQ20270;ADQ20271;ADQ20272;ADQ20273;ADQ20274;ADQ20275;ADQ20276;ADQ20277;ADQ20278;ADQ20279;ADQ20280;ADQ20281;ADQ20282;ADQ20283;ADQ20284;ADQ20285;ADQ20286;ADQ20287;ADQ20288;ADQ20289;ADQ20290;ADQ20291;ADQ20292;ADQ20293;ADQ20294;ADQ20295;ADQ20296;ADQ20297;ADQ20298;ADQ20299;ADQ20300;ADQ20301;ADQ20302;ADQ20303;ADQ20304;ADQ20305;ADQ20306;ADQ20307;ADQ20308;ADQ20309;ADQ20310;ADQ20311;ADQ20312;ADQ20313;ADQ20314;ADQ20315;ADQ20316;ADQ20317;ADQ20318;ADQ20319;ADQ20320;ADQ20321;ADQ20322;ADQ20323;ADQ20324;ADQ20325;ADQ20326;ADQ20327;ADQ20328;ADQ20329;ADQ20330;ADQ20331;ADQ20332;ADQ20333;ADQ20334;ADQ20335;ADQ20336;ADQ20337;ADQ20338;ADQ20339;ADQ20340;ADQ20341;ADQ20342;ADQ20343;ADQ20344;ADQ20345;ADQ20346;ADQ20347;ADQ20348;ADQ20349;ADQ20350;ADQ20351;ADQ20352;ADQ20353;ADQ20354;ADQ20355;ADQ20356;ADQ20357;ADQ20358;ADQ20359;ADQ20360;ADQ20361;ADQ20362;ADQ20363;ADQ20364;ADQ20365;ADQ20366;ADQ20367;ADQ20368;ADQ20369;ADQ20370;ADQ20371;ADQ20372;ADQ20373;ADQ20374;ADQ20375;ADQ20376;ADQ20377;ADQ20378;ADQ20379;ADQ20380;ADQ20381;ADQ20382;ADQ20383;ADQ20384;ADQ20385;ADQ20386;ADQ20387;ADQ20388;ADQ20389;ADQ20390;ADQ20391;ADQ20392;ADQ20393;ADQ20394;ADQ20395;ADQ20396;BAA19103;BAA76635;BAA76636;BAA76637;BAA76638;BAA76639;BAB13293;BAB13294;BAB13295;BAB13296;BAB13297;BAF82547;CAA10351;CAA72414;CAA72536;CAA73726;EAW63978;EAW63979;EAW63980;EAW63981;EAW63982;EAW63983;EAW63984;EAW63985;EAW63986;EAW63987;EAW63988;NP_002533;NP_058212;NP_058213;NP_058214;NP_058434;NP_058436;NP_058437;NP_058438;O15527;XP_005265242 Hs.380271 1658025;1709002;1788116;1788118;1789881;2131591;2159032 G67288;G67289;RH78923;SHGC-76687;SHGC-76689;SHGC-79567;csnpogg1-pcr5-1 HMMH;HOGG1;MUTM;OGH1 8-hydroxyguanine DNA glycosylase;AP lyase;DNA-apurinic or apyrimidinic site lyase;N-glycosylase/DNA lyase;OGG1 type 1f;OTTHUMP00000122618;OTTHUMP00000122619;OTTHUMP00000122620;OTTHUMP00000122621;OTTHUMP00000122622;OTTHUMP00000122623;OTTHUMP00000207398;OTTHUMP00000207399;OTTHUMP00000207403;OTTHUMP00000207404 APPROVED protein-coding ENSG00000114026 HGNC:8125 03582 144700;601982 REVIEWED 736115 OMD osteomodulin INVOLVED IN carbohydrate metabolic process (inferred); cell adhesion (inferred); glycosaminoglycan metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH progesterone; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q22.31 65618561 65628868 - 95176527 95186836 - 92414245 92424554 - 1580863;6480464;8554872 10913920;12477932;12489179;12975309;14673660;15489334;19700767;8125298;9566981 4958 Q99983 AB000114;AB009589;ABBA01018585;AK225922;AK313055;AL137848;AMYH02021221;AY358872;BC046356;CH471089;NM_005014 AAH46356;AAQ89231;BAA19055;BAA23982;BAG35886;EAW62821;NP_005005;Q99983 Hs.94070 1646952;2106549 OMD__6110;STS-N30894 OSAD;SLRR2C KSPG osteomodulin;OTTHUMP00000021653;keratan sulfate proteoglycan osteomodulin;osteoadherin proteoglycan;osteomodulin (osteoadherin) protein-coding ENSG00000127083 HGNC:8134 10128 VALIDATED 1349527 OMA1 OMA1 zinc metallopeptidase ENCODES a protein that exhibits metalloendopeptidase activity; INVOLVED IN diet induced thermogenesis; energy homeostasis; glucose metabolic process; FOUND IN mitochondrial membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; 5-aza-2'-deoxycytidine 1 1 1 p32.2-p32.1 57230483 57296551 - 58881052 59012469 - 58480719 58546774 - 737633;1580863;6480464 12477932 12886954;14702039;17615298;20038677;20877624 115209 H7BZX2;Q96E52;S4R3A3;X6RD49;X6RDQ1;X6RIG5;X6RL62 AB048348;ABBA01074659;ABBA01074660;AK091101;AK308847;AL109845;AL365187;AMYH02001092;AMYH02001093;AMYH02001094;AMYH02001095;AX798035;BC012915;CH471059;NM_145243 AAH12915;ADZ15487;BAC03583;BAC79381;CAE48420;EAX06631;EAX06632;EAX06633;EAX06634;NP_660286;Q96E52 Hs.425769 1680888;1765077;2122321;2164241;5015619 AL009888;D11S3114;D1S3381;RH80515;SHGC-148610 2010001O09Rik;DAB1;FLJ33782;MPRP-1;YKR087C;ZMPOMA1 OMA1 homolog, zinc metallopeptidase;OMA1 zinc metallopeptidase homolog;OTTHUMP00000011756;OTTHUMP00000011757;metalloendopeptidase OMA1, mitochondrial;metalloprotease related protein 1;metalloprotease-related protein 1;overlapping activity with M-AAA protease;overlapping with the m-AAA protease 1 homolog;peptidase;zinc metallopeptidase OMA1 APPROVED protein-coding ENSG00000162600 HGNC:29661 14879 PROVISIONAL 1319500 OLFML2B olfactomedin-like 2B ENCODES a protein that exhibits extracellular matrix binding (inferred); INVOLVED IN extracellular matrix organization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular matrix (inferred); extracellular region (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; progesterone 1 1 1 q23.3 135056378 135097036 - 161952982 161994172 - 161983192 162024382 - 6480464;8554872 12477932;18976975;19587794;19948975;20379614;22939635;24324551 25903 F2Z3N3;H0YE85;H0YEW8;Q68BL8 AB119054;ABBA01047311;AC244129;AK301499;AK316154;AL050137;AL391825;AL590408;AMYH02002035;BC047472;BC067274;BX648975;CH471067;NM_001297713;NM_015441;XM_005245075;XM_005245076 AAH47472;AAH67274;BAD38863;BAG63010;BAH14525;CAB43286;CAI45982;EAW90696;EAW90697;EAW90698;NP_001284642;NP_056256;Q68BL8;XP_005245132;XP_005245133 Hs.507515 1757679;1772280 RH70774;SHGC-146223 MGC51337;RP11-227F8.1 OTTHUMP00000025712;OTTHUMP00000229106;olfactomedin-like protein 2B;photomedin-2 protein-coding ENSG00000162745 HGNC:24558 14877 VALIDATED 1352154 OMG oligodendrocyte myelin glycoprotein ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN cell adhesion (inferred); negative regulation of axonogenesis (inferred); neuron projection regeneration (inferred); FOUND IN anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid; calcitriol 17 17 17 q11.2 26542396 26545108 - 29621668 29624380 - 31294650 31297362 - 1580863;6480464 12068310;12426574;12477932;12566166;12692556;12716421;12951563;15489334;16344560;16425041;1688857;17335080;17632510;1899288;19034380;21534343;2277079;3283151;8125298;8244377 4974 P23515;Q53HB8 ABBA01014963;AC134669;AK222663;AK312445;AMYH02033293;BC018050;BG704091;CH471147;DA206834;M63623;NG_009018;NM_002544;X51694;X57436 AAA59970;AAH18050;ABM83257;ABM86461;BAD96383;CAA35991;CAA40684;EAW80279;EAW80280;NP_002535;P23515 Hs.113874 1653810;2106551;2126697 OMG__6111;RH17724;UniSTS:495849 OMGP OTTHUMP00000163770;oligodendrocyte-myelin glycoprotein protein-coding ENSG00000126861 HGNC:8135 01257 164345 VALIDATED 734264 OMP olfactory marker protein Olfactory marker protein is uniquely associated with the mature olfactory receptor neurons in many vertebrate species from fish to man. The OMP gene structure and protein sequence are highly conserved between mouse, rat and human. Results of the mouse knockout studies show that OMP-null mice are compromised in their ability to respond to odor stimuli, and that OMP represents a novel modulatory component of the odor detection/signal transduction cascade. [provided by RefSeq, Jul 2008] 11 11 11 q13.5 74121370 74121861 + 76813886 76814377 + 77102840 77103331 + 1580863;737796;6480464 8790421 12054873;12477932;12911636;15489334;17207965;19913121;20628086;8034318;8499899;8754248 4975 P47874 ABBA01017439;AMYH02025130;AP000752;BC069115;BC069365;CH471076;NG_033002;NM_006189;U01212 AAA20485;AAH69115;AAH69365;ADQ32896;EAW75017;NP_006180;P47874 Hs.673853 1660070;2107453;2220364 OMP__7185;RH70524;UniSTS:480807 OTTHUMP00000228840;olfactory neuronal-specific protein APPROVED protein-coding ENSG00000254550 HGNC:8136 01254 164340 REVIEWED 1354460 ONECUT2 one cut homeobox 2 This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008] 18 18 18 q21.31 51819929 51875634 + 55102917 55158530 + 57435685 57491298 + 1580863;6480464;8554872 11478782;12477932;14702039;16912168;18288132;18418398;19336002;23472758;9915796 9480 O95948 ABBA01056131;AC090340;AK021717;AK124558;AMYH02034789;BC013134;BC108925;BC108926;CH471096;NM_004852;Y18198 CAB38253;EAW63045;NP_004843;O95948 Hs.194725 2108851;2153487 D18S1054;ONECUT2_8947 MGC120377;MGC120378;OC-2;OC2 HNF-6-beta;ONECUT-2 homeodomain transcription factor;OTTHUMP00000216457;hepatocyte nuclear factor 6-beta;one cut domain family member 2;one cut domain, family member 2;onecut 2;transcription factor ONECUT-2 APPROVED protein-coding ENSG00000119547 HGNC:8139 05354 604894 REVIEWED 1350271 OLIG1 oligodendrocyte transcription factor 1 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN neuron fate commitment (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; methylmercury chloride 21 21 21 q22.11 19628035 19630313 + 34442450 34444728 + 33070144 33072422 + 1580863;6480464 10719889;10830953;11091082;11526205;12477932;12617822;14516699;15489334;15604411;16267213;16820418;17171653;17283288;17388669;17690840;18923419;21078624;21206754;21446039;21532573;21988832;23165259;23720758 116448 H7C404;Q8TAK6 AB209791;ABBA01057322;ABBA01057323;AL355743;AL834450;AMYH02037730;AP000289;AW298788;BC011252;BC026989;BC033290;BK000278;CH471079;NM_138983 AAH26989;AAH33290;ABM87827;BAD93028;CAD39110;DAA01058;EAX09848;NP_620450;Q8TAK6 Hs.56663 1802018;1802846;1823118;1825590;1829826;1846044;2025416;2025418;2025420;2025422;2025424;2025426;2025428;2025430;2025432;2025434;2025436;2025438;2025440;2025442;2025444;2025446;2025448;2025450;2025452;2025454 ECD01890;ECD02311;ECD12647;ECD13903;ECD16046;ECD24242;REN83708;REN83709;REN83710;REN83711;REN83712;REN83713;REN83714;REN83715;REN83716;REN83717;REN83718;REN83719;REN83720;REN83721;REN83722;REN83723;REN83724;REN83725;REN83726;REN83727 BHLHB6;BHLHE21;oligo1 OTTHUMP00000067600;OTTHUMP00000199731;basic domain, helix-loop-helix protein, class B, 6;class B basic helix-loop-helix protein 6;class E basic helix-loop-helix protein 21;oligodendrocyte lineage transcription factor 1;oligodendrocyte-specific bHLH transcription factor 1 protein-coding ENSG00000184221 HGNC:16983 07333 606385 VALIDATED 1316088 OLIG2 oligodendrocyte lineage transcription factor 2 This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 19583840 19587101 + 34398216 34401504 + 33025908 33029196 + 1580863;6480464 10737801;10830953;11498220;11526205;12477932;14573534;14576772;14702039;15198128;15489334;15839736;16103065;16159877;16267213;16344560;16469306;16554441;16582099;16682644;16891421;17010574;17171653;17283288;17431671;17690840;17917751;17918228;17934761;17951409;17964117;18029348;18312545;18552083;19093005;19477230;19772605;20081802;21193945;21206754;21446039;21624811;21835431;21988832;22343408;22505278;23025580;23041832;23165259;23568457;23793848 10215 C9J444;Q13516 ABBA01057322;AF221520;AK091462;AMYH02037729;AP000286;AP000287;AU130620;BC034681;BC036245;BC036275;BC047511;CH471079;DA500051;NG_011834;NM_005806;R42179;U48250;XM_005260908 AAC72247;AAF61215;AAH34681;AAH36245;AAH47511;BAG52365;EAX09851;NP_005797;Q13516;XP_005260965 Hs.176977;Hs.732068 1649105;1730857;1802482;1803118;1805582;1807496;1812238;1822452;2025032;2025034;2025036;2025038;2025040;2025042;2025044;2025046;2025048;2025050;2025052;2025054;2025056;2025058;2025060;2025062;2025064;2025066;2025068;2025070;2025072;2025074;2025076;2025078;2100660;2100662;2100664;2100666 D21S392;ECD02127;ECD02450;ECD03739;ECD04720;ECD07126;ECD12314;REN83516;REN83517;REN83518;REN83519;REN83520;REN83521;REN83522;REN83523;REN83524;REN83525;REN83526;REN83527;REN83528;REN83529;REN83530;REN83531;REN83532;REN83533;REN83534;REN83535;REN83536;REN83537;REN83538;REN83539;STS-U48250;stSG606849;stSG606850;stSG606851;stSG606853 BHLHB1;OLIGO2;PRKCBP2;RACK17;bHLHe19 OTTHUMP00000067569;OTTHUMP00000067570;OTTHUMP00000196006;basic domain, helix-loop-helix protein, class B, 1;class B basic helix-loop-helix protein 1;class E basic helix-loop-helix protein 19;human protein kinase C-binding protein RACK17;oligodendrocyte transcription factor 2;oligodendrocyte-specific bHLH transcription factor 2;protein kinase C binding protein 2;protein kinase C-binding protein 2;protein kinase C-binding protein RACK17 APPROVED protein-coding ENSG00000205927 HGNC:9398 07334 606386 REVIEWED 1351058 ONECUT3 one cut homeobox 3 ENCODES a protein that exhibits RNA polymerase II regulatory region sequence-specific DNA binding (inferred); RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (inferred); INVOLVED IN endocrine pancreas development (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); transcription factor complex (inferred) 19 19 19 p13.3 1687773 1709549 + 1753662 1775444 + 1753663 1775445 + 11181995;11944891;15057824;9915796 390874 O60422 ABBA01002681;ABBA01002682;ABBA01002683;ABBA01002684;AC004755;AC005256;AMYH02035160;AMYH02035161;AMYH02035162;AMYH02035163;AMYH02035164;CH471139;NM_001080488 AAC17602;EAW69464;NP_001073957;O60422 Hs.654347 OC-3;OC3 one cut domain family member 3;one cut domain, family member 3;transcription factor ONECUT-3 protein-coding HGNC:13399 611294 PROVISIONAL 7370081 OOSP1 oocyte secreted protein 1 FOUND IN extracellular region (inferred); INTERACTS WITH titanium dioxide (ortholog) 11 11 11 q12.1 57068680 57126568 + 59733013 59763318 + 59965540 59995845 + 6480464 16554811 255649 A8MZH6 AB231701;AB231702;ABBA01021510;AMYH02024869;AMYH02024870;AP000790;XR_247225;XR_247656;XR_252895 A8MZH6 Hs.722773 1335740;1767622;1782482;2134680 D11S1368;D11S2006;G17611;SHGC-172491 oocyte-secreted protein 1 protein-coding HGNC:49233 MODEL 1351084 OOEP oocyte expressed protein ENCODES a protein that exhibits RNA binding (inferred); INVOLVED IN cellular protein complex assembly (inferred); embryo implantation (inferred); embryonic pattern specification (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN apical part of cell (inferred); cell cortex (inferred); protein complex (inferred); INTERACTS WITH pirinixic acid; methylmercury chloride (ortholog) 6 6 6 q13 74472826 74474063 - 74078278 74079515 - 73368555 73369792 - 6480464;8554872 11181995;12477932;17913455 441161 A6NGQ2;C9J915;F2Z364 ABBA01040314;AC019205;AMYH02013908;BC024931;BX093821;CH471051;EU290647;KF459597;NM_001080507 A6NGQ2;ABX84389;EAW48772;NP_001073976 Hs.671212 1813496;1814014;1814090;1845290;1846260;1923460;1923462;1923464;1923466;1923468;1923470;1923472;1923474;1923476;1923478;1923480;1923482;1923484;1923486;1923488;1923656;2207238;2207240 ECD07769;ECD08034;ECD08074;ECD23862;ECD24350;REN32554;REN32555;REN32556;REN32557;REN32558;REN32559;REN32560;REN32561;REN32562;REN32563;REN32564;REN32565;REN32566;REN32567;REN32568;REN32652;stSG625847;stSG625848 C6orf156;HOEP19;KHDC2 FLOPED;KH homology domain containing 2;KH homology domain-containing protein 2;OTTHUMP00000196134;oocyte and embryo protein 19;oocyte expressed protein homolog (dog);oocyte- and embryo-specific protein 19;oocyte-expressed protein homolog APPROVED protein-coding HGNC:21382 611689 VALIDATED 1603163 OOSP2 oocyte secreted protein 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene 11 11 11 q12.1 57170489 57178257 + 59807748 59815517 + 60040275 60048044 + 6480464;8554872 12477932;14702039;15489334;22990118 219990 Q86WS3 ABBA01021510;AK093517;AMYH02024870;AP000790;BC036256;BC048121;CH471076;CS072271;HC007216;HC044635;NM_173801 AAH36256;AAH48121;BAC04191;CAI93409;CBH19413;CBH30647;EAW73862;NP_776162;Q86WS3 Hs.132310 FLJ36198;PLAC1L;TMEM122 OTTHUMP00000235849;oocyte-secreted protein 2;placenta-specific 1-like protein;transmembrane protein 122 APPROVED protein-coding ENSG00000149507 HGNC:26699 08207 PROVISIONAL 731042 OLR1 oxidized low density lipoprotein (lectin-like) receptor 1 This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] 12 12 12 p13.2-p12.3 15471560 15485454 - 10310899 10324790 - 10158300 10172191 - 1580992;628368;1580993;1580994;1580995;1580996;1580997;633385;1580863;6480464;7240710;8554872 12232563;12384456;12646194;12661921;12810610;15562935;16328515;9494115 10085242;10325241;10377073;11034947;11196705;11256994;11284714;11728449;11745369;11821063;11915516;11985903;12073608;12354387;12384789;12419941;12477932;12504834;12566375;12637341;12646204;12807963;12829655;12878212;14684693;15000751;15001526;15060104;15276231;15342556;15472120;15480893;15489334;15529384;15695803;15727724;15780115;15792802;15797645;15838273;15855339;15860461;15935375;15939022;15976314;16013913;16061745;16146427;16173915;16188066;16251892;16285995;16434026;16511086;16690797;16829343;17022953;17050011;17306253;17416594;17538005;17717293;17854420;17909223;17923264;17963022;17992634;18053692;18054331;18173546;18191876;18191942;18220661;18367271;18384690;18388896;18390905;18408244;18469066;18474940;18514661;18544637;18636435;18755461;18781352;18801483;18845619;18996102;19035131;19080712;19104003;19150883;19203752;19218767;19247493;19252093;19272636;19279231;19322201;19342029;19358829;19452449;19487339;19570417;19574336;19578796;19667111;19687346;19730000;19801851;19913121;19929426;19930880;19948975;19961348;20009034;20023241;20136518;20146162;20181930;20203069;20379614;20485444;20602615;20615707;20628086;20691427;20692795;21035571;21037509;21040737;21130456;21130457;21134342;21177197;21257822;21383245;21467660;21624357;21637860;21679701;21698300;21723858;21775114;21817106;21865331;21901421;21937834;21963094;21987572;22116101;22135361;22271373;22347434;22369967;22549450;22570368;22619487;22641216;22791762;22797935;22863784;22891927;22905453;22956623;23021597;23073138;23134583;23230281;23233095;23237633;23391848;23433938;23535804;23583401;23632121;23665840;23683938;23806684;23807658;23811604;23950953;23979132;24064019;24101392;24113299;24661313;24846140;9052782;9693095;9703956;9763655;9828121;9837956;9933026 4973 B7ZAN8;F5GZH1;F5H001;F5H0N6;F5H3G7;F5H7N8;J3QTI8;P78380 AB010710;AB102861;ABBA01067796;AC024224;AF035776;AF079164;AF079167;AJ131757;AK292124;AK295409;AK298040;AK308009;AK316353;AL551100;AMYH02026023;BC022295;BC055085;BP219342;BQ028409;CA309323;CB955704;CH471094;CS443020;DQ314885;JA885104;NG_016743;NM_001172632;NM_001172633;NM_002543;XM_006719081 AAC82329;AAC97927;AAH22295;ABC40744;ABM82335;ABM85511;BAA24580;BAC81565;BAF84813;BAG58360;BAG60339;BAH14724;CAB38175;CAL68889;CCQ77677;EAW96156;EAW96157;EAW96158;EAW96159;NP_001166103;NP_001166104;NP_002534;P78380;XP_006719144 Hs.412484 1337969;1671382;2120590 D12S1696;RH68316;STS-N51624 CLEC8A;LOX1;SCARE1;SLOX1;hLOX-1 C-type lectin domain family 8 member A;LOXIN;OTTHUMP00000238950;OTTHUMP00000238954;OTTHUMP00000238955;OTTHUMP00000238958;lectin-type oxidized LDL receptor 1;ox LDL receptor 1;oxidised low density lipoprotein (lectin-like) receptor 1;oxidized low-density lipoprotein receptor 1;oxidized low-density lipoprotein receptor 1, soluble form;scavenger receptor class E, member 1 APPROVED protein-coding ENSG00000173391 HGNC:8133 04003 602601;608446 REVIEWED 6481413 OPA1-AS1 OPA1 antisense RNA 1 ASSOCIATED WITH Optic Atrophy, Autosomal Dominant (inferred) 3 3 193336388 193345121 - 193618599 193627332 - 8554872 11329013 100873941 ABBA01058287;AC048351;AMYH02008439;BG203156;BG204670;HG496506;HG496507;NR_046634 Hs.679364 RP11-175P19.1 APPROVED ncrna ENSG00000224855 HGNC:40421 VALIDATED 736466 OGT O-linked N-acetylglucosamine (GlcNAc) transferase This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009] X X X q13 71105953 71148788 + 70752912 70795747 + 71533062 71575897 + 1625539;1580863;2311625;6480464;6907045;8695944;8554872 15466941;18445751;24825349 10386995;10580430;10753899;10801981;11773972;11846551;12136128;12150998;12226704;12373287;12435728;12477932;12504895;12538765;12670868;12724313;12911634;14601650;1512232;1533623;15336570;15489334;15561949;15795231;15896326;16105839;16189514;16344560;16434389;16449650;16505006;16966374;17000644;1730617;17353931;17882263;18029348;18174169;18288188;18536723;18653473;18781797;19073609;19615732;19932102;20068230;20190804;20200153;20206135;20360068;20479123;20628624;20805223;20805357;20824293;20845477;20876116;21081666;21139048;21240259;21252943;21285374;21295698;21327254;21567137;21890473;21906983;21963094;21987572;22053931;22072767;22275356;22294689;22307082;22311971;22371499;22384635;22496241;22505724;22574218;22783592;22863883;22883232;22939629;23000965;23088713;23103939;23103942;23152511;23184937;23222540;23246001;23487789;23642195;23700425;23720054;24256146;24311690;24365779;24394411;24550385;24654937;24703950;24816145;24928395;25015289;7642555;8063760;8076819;8344946;8619474;8639509;8702840;8910513;9083067;9083068;9110174;9343410;9499386 8473 C9JZL3;H7C2T7;O15294 ABBA01067756;ABBA01067757;ABBA01067758;AF070560;AF147394;AF223393;AJ315767;AK300267;AK313530;AL049950;AL050366;AL590763;AL833085;AMYH02039676;AMYH02039677;BC014434;BC015144;BC038180;BX537844;CB857907;CH471132;DA460761;NG_015875;NM_181672;NM_181673;U77413;XM_005262308;XM_006724714 AAB63466;AAF31458;AAH14434;AAH38180;ABM84549;ABM87847;BAG62028;CAB62528;CAC86127;CAC86128;CAC86129;CAD89970;CAD97853;EAX05285;EAX05286;EAX05287;NP_858058;NP_858059;O15294;XP_005262365;XP_006724777 Hs.405410 1336042;1659162;1666065;1739671;2117487;2187160 A002Y42;DXS7559E;DXS8101;RH1703;SHGC-16181;SHGC-56883 FLJ23071;HRNT1;MGC22921;O-GLCNAC O-GlcNAc transferase p110 subunit;O-GlcNAc transferase subunit p110;O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase);O-linked N-acetylglucosamine transferase 110 kDa subunit;OTTHUMP00000032154;OTTHUMP00000032166;UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit;UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase;o linked n-acetylglucosamine transferase;uridinediphospho-N-acetylglucosamine:polypeptide beta-N-acetylglucosaminyl transferase APPROVED protein-coding ENSG00000147162 HGNC:8127 02222 300255 REVIEWED 1354152 OPA2 optic atrophy 2 (obscure) ASSOCIATED WITH OPTIC ATROPHY 2 (inferred) 7240710 9382106 4977 1299932;1341766;7187463 DXS991;DXS993 HGNC:8141 311050 6481047 OPCML-IT1 OPCML intronic transcript 1 (non-protein coding) 14702039 100874333 AK056505;AP003972 Hs.680573 ncrna HGNC:41366 6481044 OPCML-IT2 OPCML intronic transcript 2 (non-protein coding) 100874332 AP005122 ncrna HGNC:41365 1343134 OPEM ophthalmoplegia, external, with myopia ASSOCIATED WITH Ophthalmoplegia, External, and Myopia (inferred) 7240710 4981 HGNC:8146 311000 732947 ONECUT1 one cut homeobox 1 This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 15 15 15 q21.3 29944311 29977184 - 53049160 53082209 - 52756963 52790012 - 729198;1580863;6480464;6907045 8790352 10430878;10491763;10811635;10825208;11279202;12379144;12477932;12509444;14570708;14988562;15304484;15342556;15520459;17283222;18097590;18459945;18976975;20967225;21893194;21920465;22271799;23291635;23472758;24022481;24638272;8887657;9231664;9915796 3175 H0YMS2;Q9UBC0;U3KQR8 AA699732;ABBA01039054;ABBA01039055;AC016044;AF035581;AMYH02030454;AMYH02030455;BC140830;BP289459;BX118406;CH471082;EU532019;NM_004498;NR_073510;U77975;U96173;Y17739 AAB61705;AAD00826;AAD02033;AAI40831;ACB30402;CAB50769;EAW77461;NP_004489;Q9UBC0 Hs.658573 1646377;1664640;1665737;1721357;1722623;1794938;2106553 G59678;G60395;ONECUT1__6113;PMC85812P3;RH45256;WI-18148;WI-18317 HNF-6;HNF6;HNF6A OTTHUMP00000162725;hepatocyte nuclear factor 6;hepatocyte nuclear factor 6, alpha;one cut domain family member 1;one cut domain, family member 1 protein-coding ENSG00000169856 HGNC:8138 05002 604164 REVIEWED 1344166 OPA1 optic atrophy 1 (autosomal dominant) This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 3 3 3 q29 191726124 191830778 + 193310933 193415600 + 193593144 193697811 + 1580863;6480464;7240710;7800709;7800713;7800716;7800712;7800697;7800698;7800704;7800726;7800684;7800699;7800715;7800701;7800714;7800685;7800717;7800718;7800708;7800720;7800686;7800687;7800727;7800706;7800710;7800721;7800722;8554872;8699517 11810296;12073024;16513463;16617242;16735988;16785854;17188046;17306754;17314202;17428816;18079692;18936150;19112530;19493956;19605646;19969356;20546606;20664796;21220562;21552501;22345048;22406748;23316298;23401657;24388463 11017079;11017080;11440989;11735024;11810270;11847212;12036970;12123827;12161614;12477932;12504110;12509422;12543739;12566046;12842213;14516807;14551537;14566653;14644237;14702039;14970223;15144186;15146197;15356267;15489334;15505825;15531309;15534475;15635063;15700187;15832306;16006781;16021496;16115883;16158427;16240368;16323009;16331355;16344560;16737747;16778770;17003040;17016536;17024226;17188070;17318099;17342744;17415700;17545159;17579882;17615298;17709429;17709430;17718388;17722006;17724190;17826766;18065439;18076378;18158317;18204809;18222991;18287570;18360822;18488399;18653586;18678599;18729074;18783614;19029523;19046944;19165527;19181907;19319978;19322201;19325939;19409380;19581274;19619285;19733158;19754948;19946888;20157015;20157369;20301426;20357201;20385391;20417568;20417570;20436456;20484224;20837821;20843780;20877624;20952381;20974897;21036400;21112924;21139048;21145461;21150319;21203403;21378995;21457585;21636302;21731710;21745197;21796221;21798574;21828197;21832049;21890473;21906983;21963094;21980395;22042570;22197506;22382025;22433900;22658590;22671293;22779427;22800932;22857269;22879959;22902477;22939629;22993284;23108376;23138851;23250881;23387428;23713734;23831624;23874603;23878241;23906536;23916084;24024178;24051421;24120325;24138050;24244333;24250222;24816145;24883014;24970096;25137924;9490303;9628581;9917792 4976 A8MXB6;C9JMB8;C9JY58;E5KLJ5;E5KLJ6;E5KLJ7;E5KLJ9;E5KLK0;E5KLK1;E5KLK2;H7C141;H7C321;H7C3G2;O60313 AB011139;ABBA01058285;ABBA01058286;ABBA01058287;AC048351;AC069421;AC106710;AF416919;AF416920;AK022107;AK022522;AMYH02008439;AMYH02008440;AMYH02008441;BC035393;BC043443;BC058013;BC075805;BQ774938;CH471052;CN314824;DA993450;FB714787;FB714791;FB714793;FB714795;HQ204906;HQ204907;HQ204908;HQ204909;HQ204910;HQ204911;HQ204912;HQ204913;HQ204914;HQ204915;HQ204916;HQ204917;HQ204918;HQ204919;HQ204920;HQ204921;HQ204922;HQ204923;HQ204924;HQ204925;HQ204926;HQ204927;HQ204928;HQ204929;HQ204930;HQ204931;HQ204932;HQ204933;HQ204934;HQ204935;HQ204936;HQ204937;HQ204938;HQ204939;HQ204940;HQ204941;HQ204942;HQ204943;HQ204944;HQ204945;NG_011605;NM_015560;NM_130831;NM_130832;NM_130833;NM_130834;NM_130835;NM_130836;NM_130837 AAH58013;AAH75805;ADP90054;ADP90055;ADP90056;ADP90057;ADP90058;ADP90059;ADP90060;ADP90061;ADP90062;ADP90063;ADP90064;ADP90065;ADP90066;ADP90067;ADP90068;ADP90069;ADP90070;ADP90071;ADP90072;ADP90073;ADP90074;ADP90075;ADP90076;ADP90077;ADP90082;ADP90083;ADP90084;ADP90085;ADP90086;ADP90087;ADP90088;ADP90089;ADP90090;ADP90091;ADP90092;ADP90093;ADP90094;ADP90095;ADP90096;ADP90097;ADP90098;ADP90099;ADP90100;ADP90101;ADP90102;ADP90103;ADP90104;ADP90105;ADP90106;ADP90107;ADP90108;ADP90109;ADP90110;ADP90111;ADP90112;ADP90113;ADP90114;ADP90115;ADP90116;ADP90117;ADP90118;ADP90119;ADP90120;ADP90121;ADP90122;ADP90123;ADP90124;ADP90125;ADP90130;ADP90131;ADP90132;ADP90133;ADP90138;ADP90139;ADP90140;ADP90141;ADP90142;ADP90143;ADP90144;ADP90145;ADP90146;ADP90147;ADP90148;ADP90149;ADP90150;ADP90151;ADP90152;ADP90153;ADP90154;ADP90155;ADP90156;ADP90157;ADP90162;ADP90163;ADP90164;ADP90165;ADP90166;ADP90167;ADP90168;ADP90169;ADP90170;ADP90171;ADP90172;ADP90173;ADP90174;ADP90175;ADP90176;ADP90177;ADP90178;ADP90179;ADP90180;ADP90181;ADP90182;ADP90183;ADP90184;ADP90185;ADP90186;ADP90187;ADP90188;ADP90189;ADP90190;ADP90191;ADP90192;ADP90193;ADP90194;ADP90195;ADP90196;ADP90197;ADP90198;ADP90199;ADP90200;ADP90201;ADP90202;ADP90203;ADP90204;ADP90205;ADP90206;ADP90207;ADP90208;ADP90209;ADP90210;ADP90211;ADP90212;ADP90213;ADP90214;ADP90215;ADP90216;ADP90217;ADP90218;ADP90219;ADP90220;ADP90221;ADP90222;ADP90223;ADP90224;ADP90225;ADP90226;ADP90227;ADP90228;ADP90229;ADP90234;ADP90235;ADP90236;ADP90237;ADP90238;ADP90239;ADP90240;ADP90241;ADP90242;ADP90243;ADP90244;ADP90245;ADP90246;ADP90247;ADP90248;ADP90249;ADP90250;ADP90251;ADP90252;ADP90253;ADP90258;ADP90259;ADP90260;ADP90261;ADP90262;ADP90263;ADP90264;ADP90265;ADP90266;ADP90267;ADP90268;ADP90269;ADP90270;ADP90271;ADP90272;ADP90273;ADP90274;ADP90275;ADP90276;ADP90277;ADP90278;ADP90279;ADP90280;ADP90281;ADP90282;ADP90283;ADP90284;ADP90285;ADP90286;ADP90287;ADP90288;ADP90289;ADP90290;ADP90291;ADP90292;ADP90293;ADP90294;ADP90295;ADP90296;ADP90297;ADP90298;ADP90299;ADP90300;ADP90301;ADP90306;ADP90307;ADP90308;ADP90309;ADP90310;ADP90311;ADP90312;ADP90313;ADP90314;ADP90315;ADP90316;ADP90317;ADP90318;ADP90319;ADP90320;ADP90321;ADP90322;ADP90323;ADP90324;ADP90325;ADP90326;ADP90327;ADP90328;ADP90329;ADP90330;ADP90331;ADP90332;ADP90333;ADP90334;ADP90335;ADP90336;ADP90337;ADP90338;ADP90339;ADP90340;ADP90341;ADP90342;ADP90343;ADP90344;ADP90345;ADP90346;ADP90347;ADP90348;ADP90349;ADP90350;ADP90351;ADP90352;ADP90353;ADP90354;ADP90355;ADP90356;ADP90357;ADP90358;ADP90359;ADP90360;ADP90361;ADP90362;ADP90363;ADP90364;ADP90365;ADP90366;ADP90367;ADP90368;ADP90369;ADP90370;ADP90371;ADP90372;ADP90373;BAA25493;CAS91638;CAS91640;CAS91641;CAS91642;EAW78064;EAW78065;EAW78066;EAW78067;EAW78068;EAW78069;EAW78070;EAW78071;EAW78072;NP_056375;NP_570844;NP_570845;NP_570846;NP_570847;NP_570848;NP_570849;NP_570850;O60313 Hs.594504 1672296;1773438;1856096;1856102;2116792;2173785;2185791;2219234;5022200;5022578;5037552 D1S1423;D8S2279;L18426;OPA1__6114;RH36294;RH78614;SGC38140;SHGC-31084;SHGC-37414;SHGC-77667;SHGC-77668 FLJ12460;KIAA0567;MGM1;NPG;NTG OTTHUMP00000195064;OTTHUMP00000195065;dynamin-like 120 kDa protein, mitochondrial;dynamin-like guanosine triphosphatase;largeG;mitochondrial dynamin-like 120 kDa protein;mitochondrial dynamin-like GTPase;optic atrophy protein 1 APPROVED protein-coding ENSG00000198836 HGNC:8140 05596 125250;165500;605290;606657 REVIEWED 1319326 OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 19 19 19 q13.32 42837136 42894236 - 46031025 46088122 - 45527767 45584864 - 1580863;6480464;7240710;8554872;8699517 11076863;11256614;11668429;12126933;12477932;12865426;13703570;14702039;15342707;15489334;15489336;16344560;16381901;16838891;18614015;19319978;20301646;20350831;20372962;20801516;20877624;21036400;21832049;22064162;23455924;23700088;24136862;8889548;9097959 80207 B4DK77;Q9H6K4 ABBA01040935;AC006117;AC006261;AC011480;AK025840;AK098798;AK296429;AMYH02036203;AMYH02036204;AMYH02036205;BC005059;BC047316;BC064146;BU617706;CA944687;CH471126;CS300703;DB034102;NG_013332;NM_001017989;NM_025136;XM_005259278;XM_006723403 AAH05059;AAH47316;AAH64146;ACE86958;BAB15255;BAC05415;BAG59089;CAK32367;CAL37564;EAW57367;NP_001017989;NP_079412;Q9H6K4;XP_005259335;XP_006723466 Hs.466945;Hs.723713 1720801;2153407;2219236;5015404;5015619;5015961;5016478;5016596;5017433;5020946;5020948;5022322;5022450;5022463;5022578;5024039;5024761;5037552;5037554;5109281;5120445 D10S275;D11S2560;D11S3114;D15S1477;D16S325;D1S1423;D1S1425;D3S1673;D8S2279;D8S2282;G35510;G59376;GDB:315973;GDB:434012;GDB:631802;L17705;L17971;OPA3__6115;RH36905;RH66765;STS-T76997 FLJ22187;FLJ25932;MGA3;MGC75494 Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus');optic atrophy 3 protein APPROVED protein-coding ENSG00000125741 HGNC:8142 05956 165300;258501;606580 REVIEWED 1346667 OPN1LW opsin 1 (cone pigments), long-wave-sensitive This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008] X X X q28 153643406 153658179 + 153409725 153424507 + 154144224 154159032 + 1580863;6893536;7240710;6480464;8554872;8699517 21704730 11063754;11181995;12051694;12107411;14517278;14691252;15252758;1557123;15772651;16020309;1617223;17655910;18240029;19189139;19386593;19493002;20075512;20220053;20301478;20579627;20801516;20880066;21267011;21451022;22183383;22732407;22998501;23139274;24058409;2501212;2937147;3303660;7566098;7643192;8146162;8213841;8792812;8857542;8889548;9430642;9541545;9860863 5956 B1B1F0;P04000 ABBA01045305;ABBA01045306;ABBA01045307;AC244097;AW950066;BM688032;BQ637240;BQ639996;BU726889;CH471172;CR749814;DN693335;EL949562;EL952084;M13301;M13305;NG_009105;NM_020061;Z68193 AAB59524;AAI56644;CAA92342;CAH18674;CAM28377;EAW72756;NP_064445;P04000 Hs.247787;Hs.592247 1703136;1792506;1810412;1810918;1824796;2036084;2036086;2036088;2036090;2036092;2036094;2036096;2036100;2036102;2036104;2036106;2036108;5112019 ECD06199;ECD06457;ECD13496;G44366;GDB:452917;PMC152297P2;REN89051;REN89052;REN89053;REN89054;REN89055;REN89056;REN89057;REN89059;REN89060;REN89061;REN89062;REN89063 CBBM;CBP;COD5;RCP;ROP OTTHUMP00000032193;cone dystrophy 5 (X-linked);long-wave-sensitive opsin 1;red cone photoreceptor pigment;red-sensitive opsin APPROVED protein-coding ENSG00000102076 HGNC:9936 02366 300822;303700;303900 REVIEWED 1345567 OPHN1 oligophrenin 1 This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008] X X X q12 67613664 68004666 - 67262186 67653369 - 68042344 68433647 - 1580863;6480464;7240710;8554872;8699517 10439959;10818214;11161835;11595131;11998687;12477932;12777533;12805098;12807966;15026118;15342556;15772651;16221952;17845870;18029348;18261018;18930891;18954304;19911011;20301317;20479760;20528889;21796728;22238370;23619296;9195162;9582072 4983 O60890 AB102191;AB102192;AB102193;AB102194;AB102195;AB102196;AB102197;AB102198;AB102199;AB102200;AB102201;AB102202;AB102203;AB102204;AB102205;AB102206;AB102207;AB102208;AB102209;AB102210;AB102656;ABBA01067293;ABBA01067294;ABBA01067295;ABBA01067296;ABBA01067297;ABBA01067298;ABBA01067299;ABBA01067300;ABBA01067301;ABBA01067302;ABBA01067303;ABBA01067304;ABBA01067305;ABBA01067306;ABBA01067307;ABBA01067308;ABBA01067309;ABBA01067310;ABBA01067311;ABBA01067312;ABBA01067313;ABBA01067314;ABBA01067315;ABBA01067316;ABBA01067317;ABBA01067318;ABBA01067319;ABBA01067320;ABBA01067321;ABBA01067322;ABBA01067323;ABBA01067324;ABBA01067325;ABBA01067326;ABBA01067327;ABBA01067328;ABBA01067329;ABBA01067330;ABBA01067331;ABBA01067332;ABBA01067333;ABBA01067334;ABBA01067335;ABBA01067336;ABBA01067337;ABBA01067338;ABBA01067339;ABBA01067340;ABBA01067341;ABBA01067342;ABBA01067343;ABBA01067344;ABBA01067345;ABBA01067346;ABBA01067347;ABBA01067348;ABBA01067349;ABBA01067350;ABBA01067351;ABBA01067352;AJ001189;AJ248245;AJ248267;AK295769;AK309665;AK309696;AL157700;AL158201;AL672138;AMYH02039639;AMYH02039640;AMYH02039641;AMYH02039642;AMYH02039643;AX022628;AX022629;BC059393;BC140763;BP357826;CH471132;NG_008960;NM_002547;XM_005262270;XM_006724652;XM_006724653;Z82203 AAH59393;AAI40764;BAC80690;BAC80691;BAC80692;BAC80693;BAC80694;BAC80695;BAC80696;BAC80697;BAC80698;BAC80699;BAC80700;BAC80701;BAC80702;BAC80703;BAC80704;BAC80705;BAC80706;BAC80707;BAC80708;BAC80709;BAC81125;BAG58594;CAA04579;CAB96181;CAC07882;EAX05378;NP_002538;O60890;XP_005262327;XP_006724715;XP_006724716 Hs.128824 1666781;1679782;1689440;1701806;1702370;1702722;1702978;1703050;1713027;1729243;1729249;1729251;1729261;1729337;1729339;1729341;1729871;1741613;1742279;1777583;1849222;1852172;2119427;2124482;2136780;2141311;2156642;2167650;5015619;5018983;5022637;5118147 A004A36;AL033784;D11S2766;D11S3017;D11S3114;DXS1160;DXS2493;DXS7497;DXS896;DXS897;DXS905;DXS908;DYS416;G64120;G64121;G64122;G64123;G64125;G64126;G64127;GDB:181567;GDB:194746;L77752;PGK1P1;RH10979;RH120295;RH36157;RH64534;RH67878;RH79992;WI-12732;WI-19211 ARHGAP41;MRX60;OPN1 OTTHUMP00000023451;mental retardation, X-linked 60;oligophrenin-1;oligophrenin-1, Rho-GTPase activating protein APPROVED protein-coding ENSG00000079482 HGNC:8148 02130 300127;300486 REVIEWED 1605739 OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2 This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009] X X X q28 153643342 153658175 + 153485203 153498755 + 154219734 154233286 + 6480464 10319869;12853434;1302020;15772651;18240029;19493002;2937147;3303660;8857542 728458 H0Y642;P04001 AC092402;AC244097;AC245140;NM_001048181 NP_001041646;P04001 Hs.571751 1703136;1792506;1810412;1810918;1824796;2036084;2036086;2036088;2036090;2036092;2036094;2036096;2036098;2036100;2036102;2036104;2036106;2036108;2102372;2102374;2102376;2102378;2102382;2102384;2102388;5112019 ECD06199;ECD06457;ECD13496;G44366;GDB:452917;PMC152297P2;REN89051;REN89052;REN89053;REN89054;REN89055;REN89056;REN89057;REN89058;REN89059;REN89060;REN89061;REN89062;REN89063;stSG603854;stSG603855;stSG603858;stSG603859;stSG603882;stSG603885;stSG603914 GOP;OPN1MW OTTHUMP00000026023;green cone photoreceptor pigment;green-sensitive opsin;medium-wave-sensitive opsin 1 APPROVED protein-coding ENSG00000166160 HGNC:26952 REVIEWED 736424 OPN1SW opsin 1 (cone pigments), short-wave-sensitive This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008] 7 7 7 q32.1 123208297 123211598 - 128412543 128415844 - 128772489 128775790 - 1580863;6480464;6893536;7240710;8554872;8699517 21704730 12690205;12809157;1386496;1531728;16961973;1742276;18240029;19189139;19386593;19493002;20801516;23022137;23704328;2565599;2937147;3303660;3485310;8270261;8889548;9089077 611 P03999;Q0PJU0 ABBA01057656;AC024952;AMYH02016719;BM666330;CH236950;CH471070;DQ822478;L32835;M13299;M26172;NG_009094;NM_001708;U53874 AAA35608;AAB05207;AAC51334;AAI56720;AAL31362;ABH01259;EAL24112;EAW83680;NP_001699;P03999 Hs.656404 1645033;1661898;1666259 BCP;RH66822;STS-M13299 BCP;BOP;CBT OTTHUMP00000212782;blue cone photoreceptor pigment;blue-sensitive opsin;opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan);short-wave-sensitive opsin 1 APPROVED protein-coding ENSG00000128617 HGNC:1012 01836 190900;613522 REVIEWED 733077 OPLAH 5-oxoprolinase (ATP-hydrolysing) The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012] 8 8 8 q24.3 207 8381 + 145106167 145115584 - 144051266 144060681 - 1580863;6480464;6907045;8699517;8554872;7240710 12477932;14993790;15146197;20413906;21651516;21886157;21988832;23430506;24654937;24816145 26873 O14841;Q9HBQ9 AB122018;ABBA01005226;AC109322;AF217994;AL096750;AMYH02018952;AMYH02018953;BC036944;BC041576;BC142672;BC150206;CN279004;KF459651;NG_032671;NM_017570 AAG17236;AAI40371;AAI42673;AAI50207;BAD13434;CAB46426;NP_060040;O14841 Hs.305882 5-Opase;DKFZp434H244;OPLA 5-oxo-L-prolinase;5-oxoprolinase;OPLAHD;OTTHUMP00000229752;pyroglutamase APPROVED protein-coding ENSG00000178814 HGNC:8149 14880 260005;614243 REVIEWED 737573 OPN5 opsin 5 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this family member may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 6 6 6 p12.3 49306026 49350372 + 47749775 47794117 + 47782039 47826381 + 1302390;6480464 14623098 12477932;12679517;14574404;14623103;14702039;15489334;15774036;16344560;18240029;18354391;22043319;24403072;24614639 221391 D6RDV4;J3KPQ2;Q6U736 ABBA01050605;AK097448;AL161622;AL356421;AMYH02013697;AY255615;AY288419;AY377391;BC042544;BC126194;BC126198;BX647224;CH471081;DB056067;HC044661;NM_181744;NR_033806;XM_006715011 AAI26195;AAI26199;AAO85127;AAP72128;AAR21109;ADR82953;CBH30660;EAX04324;NP_859528;Q6U736;XP_006715074 Hs.213717 2109599 OPN5__6117 GPR136;GRP136;PGR12;TMEM13 G-protein coupled receptor 136;OTTHUMP00000217679;OTTHUMP00000217680;OTTHUMP00000217681;g protein-coupled receptor 136;neuropsin;opsin-5;transmembrane protein 13 APPROVED protein-coding HGNC:19992 12358 609042 REVIEWED 1317163 OPALIN oligodendrocytic myelin paranodal and inner loop protein FOUND IN Golgi apparatus; INTERACTS WITH arsenous acid; diarsenic trioxide; (S)-nicotine (ortholog) 10 10 10 q23-q24 91844157 91860285 - 98102973 98119092 - 96343216 96359365 - 1580863;6480464 11076863;11230166;11256614;11814680;12477932;15342556;15489334;15489336;15840729;16344560;16381901;17442045;18490449 93377 Q96PE5 ABBA01021830;AF367761;AK289835;AK296462;AK296562;AK309095;AK311260;AK316090;AL136181;AL834229;AMYH02023587;AMYH02023588;AMYH02023589;BC024191;BC033737;BP349325;CH471066;CK023662;DA232955;DA291461;DA314221;DA351452;DA399407;DA399715;DA402678;HY120079;NM_001040102;NM_001040103;NM_001284320;NM_001284321;NM_001284322;NM_001284323;NM_001284324;NM_001284326;NM_001284327;NM_033207;NR_104296;NR_104297 AAH33737;AAK62349;BAF82524;BAG59108;BAG59182;BAH14461;CAD38907;CAL37624;CAL37930;EAW49977;EAW49978;NP_001035191;NP_001035192;NP_001271249;NP_001271250;NP_001271251;NP_001271252;NP_001271253;NP_001271255;NP_001271256;NP_149984;Q96PE5 Hs.12449 1646915;1655002;1740013;2155860;5022578;5022588;5037552 A008W15;A008W28;D10S1626;D1S1423;D5S1597E;D8S2279;RH11224 HTMP10;TMEM10;TMP10 OTTHUMP00000020170;transmembrane protein 10;transmembrane protein TMP10 protein-coding ENSG00000197430 HGNC:20707 15521 VALIDATED 731961 OPRD1 opioid receptor, delta 1 ENCODES a protein that exhibits enkephalin receptor activity; opioid receptor activity; INVOLVED IN cellular response to hypoxia; cellular response to toxic substance; G-protein coupled receptor signaling pathway; ASSOCIATED WITH Arrhythmias, Cardiac (ortholog); Myocardial Infarction (ortholog); Myocardial Reperfusion Injury (ortholog); FOUND IN intrinsic component of plasma membrane; INTERACTS WITH buprenorphine; DPDPE; hydralazine 1 1 1 p36.1-p34.3 27534800 27586335 + 29138654 29190208 + 28812142 28863696 + 1580863;2316589;2316590;2316587;2316592;6480464;8554872 10900218;12136724;12710986;12798419 10385123;10788493;10982041;11040053;11054417;11069979;11076532;11076863;11078827;11085981;11259487;11259507;11278447;11316510;12116270;12142540;12413885;12477932;12740597;12847517;1335167;14535952;14745298;14999000;15086532;15317820;16053916;16325578;16331961;16710414;1671672;16741914;16806108;16808998;17374034;17503481;17550902;17565992;17588601;17622222;18182056;18200497;18213616;18240029;18307412;18338799;18395423;18455254;18518925;18537939;18577758;18676680;18687376;18703511;18753988;19000170;19032295;19058789;19086053;19170196;19183129;19344370;19416973;19433584;19520863;19581316;19625176;19692168;19874574;20066010;20237496;20300121;20468064;20528919;20734064;21079607;21220103;21234650;21361347;21464208;21483469;21810780;22101011;22184124;22235275;22500942;22752269;22795689;23222260;23318717;23836900;23903826;24413399;24798333;25141394;2834384;7808419;8020949;8201839;8393523;8415697;9166747;9548483 4985 D2CGC9;P41143 ABBA01035064;AL009181;AMYH02000637;AMYH02000638;BF434068;CH471059;EF057065;EU883570;NM_000911;U07882;U10504 AAA18789;AAA83426;AAI11839;ABO25742;ACG60644;EAX07672;NP_000902;P41143 Hs.372 5117328 GDB:511375 D-OR-1;DOR-1;OPRD OTTHUMP00000003778;delta opioid receptor 1;delta-type opioid receptor protein-coding ENSG00000116329 HGNC:8153 01308 165195 VALIDATED 1347075 OPN1MW opsin 1 (cone pigments), medium-wave-sensitive This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009] X X X q28 153643424 153658069 + 153448085 153462352 + 154182596 154196861 + 1580863;6480464;6893536;7240710;8554872;8699517 21704730 10319869;12051694;12477932;12853434;1302020;16020309;19189139;19386593;19956635;20220053;20301478;20579627;21267011;22183383;22998501;23139274;2574415;2937147;3303660;7643192;8792812;8857542;9494086;9815288 2652 P04001 AC092402;AC244097;BC140938;BC143790;BC171754;BC171755;K03494;K03497;NG_011606;NM_000513;X54675 AAB59503;AAB59525;AAI40939;AAI43791;AAI56777;AAI71754;AAI71755;CAA38486;NP_000504;P04001 Hs.247787 1824796;2036108;5112019 ECD13496;G44366;REN89063 CBBM;CBD;COD5;GCP;GOP;MGC176615;MGC177321;MGC198468;MGC198469;OPN1MW1;OPN1MW2 OTTHUMP00000024237;cone dystrophy 5 (X-linked);green cone photoreceptor pigment;green cone pigment;green-sensitive opsin;medium-wave-sensitive opsin 1;opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan);photopigment apoprotein APPROVED protein-coding HGNC:4206 02365 300821;303700;303800 REVIEWED 68657 OPRL1 opiate receptor-like 1 The protein encoded by this gene is a G protein-coupled receptor whose expression can be induced by phytohemagglutinin. The encoded integral membrane protein is a receptor for the 17 aa neuropeptide nociceptin/orphanin FQ. This gene may be involved in the regulation of numerous brain activities, particularly instinctive and emotional behaviors. A promoter for this gene also functions as a promoter for another gene, regulator of G-protein signalling 19 (RGS19), located on the opposite strand. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2011] 20 20 20 q13.33 59397677 59420493 + 62711451 62731996 + 64080098 64100643 + 1580863;6480464;8554872 10571060;10692489;10965058;10998524;11090272;11097863;11238602;11780052;12130708;12393946;12399106;12477932;12568343;12576178;12801588;14660000;15016723;15086532;15146197;15276231;15489334;16800795;16807742;17167337;17456499;17910740;18191876;18240029;18247127;18269382;18286384;18577758;19058789;19501074;19874574;20032820;20682755;20888736;21656184;21709374;22596163;22849833;23086955;23740899;23799031;25141394;2834384;7500847;7566152;8137918;9521323;9862775 4987 P41146;Q8IXB0 ABBA01018567;AF115266;AF126470;AF217689;AF285093;AF285094;AF285095;AF348323;AK308203;AL121581;AL590548;AMYH02037482;AMYH02037483;AW451157;AY268428;BC038433;CH471077;CN267465;CR542061;CR542082;L40949;NM_000913;NM_001200019;NM_182647;U30185;X77130;XM_005260206;XM_006723799;XM_006723800 AAA84913;AAA96251;AAG42351;AAG42691;AAG42692;AAG42693;AAH38433;AAK11714;AAL54890;AAO13224;AAP23195;ABM84132;ABM84133;ABW03593;CAA54386;CAG46858;CAG46879;EAW75162;EAW75163;NP_000904;NP_001186948;NP_872588;P41146;XP_005260263;XP_006723862;XP_006723863 Hs.2859;Hs.736944 1677038;1697106;1769974;1796434;2132202 G10715;OPRL1_1278;RH102037;RH66077;SHGC-12017 KOR-3;MGC34578;OOR;ORL1 LC132 receptor-like;NOCIR;OTTHUMP00000031640;OTTHUMP00000031641;OTTHUMP00000031642;kappa-type 3 opioid receptor;kappa3-related opioid receptor;nociceptin receptor;orphanin FQ receptor APPROVED protein-coding ENSG00000125510 HGNC:8155 03971 602548 REVIEWED 1349299 OPN4 opsin 4 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 10 10 10 q22 82417087 82428990 + 88414314 88426217 + 86654557 86666460 + 1580863;6480464;8554872 10632589;12163844;12477932;12853434;15203218;15489334;15674243;15674244;15716953;16385451;16687290;16754659;16961436;18240029;18577758;18804284;18976975;19470168;20180986;20554694;20810319;22074930;22868039;22881342;23055493;23554393;23555953;23809464;24119231;24449866;8889548 94233 C9JWU6;Q9UHM6 AB065730;ABBA01033680;AC067750;AF147788;AK310520;AMYH02023481;BC029291;BC113558;BC143688;BM672338;CD634966;CD634974;CH471142;DQ314804;NM_001030015;NM_033282 AAF24978;AAI13559;AAI43689;ABC40723;BAC05951;EAW80330;EAW80331;NP_001025186;NP_150598;Q9UHM6 Hs.283922 1764407;1766219;1796432;5491367 OPN4_1017;Opn4;SHGC-147992;SHGC-149581 MGC142118;MOP OTTHUMP00000020006;OTTHUMP00000020007;melanopsin;opsin 4 (melanopsin);opsin-4 APPROVED protein-coding ENSG00000122375 HGNC:14449 05977 606665 VALIDATED 1312631 OPTC opticin Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008] 1 1 1 q32.1 176592905 176608331 + 203463271 203478077 + 203494143 203508949 + 1580863;6480464 10636917;10837509;10892843;11641609;12019215;12477932;12951322;15090426;15489334;16335952;17359525;17474147;17563717;19536175;19844586;20201926;22082156;22534113;22669977;23319000 26254 Q5T2G3;Q9UBM4 ABBA01027480;AF161702;AJ133790;AL391817;AMYH02002513;AMYH02002514;AY077681;BC074942;BC074943;BF724878;CH471067;NG_022886;NM_014359 AAD45900;AAH74942;AAH74943;AAL78286;CAB53459;EAW91482;NP_055174;Q9UBM4 Hs.632468 OPT OTTHUMP00000034332;oculoglycan APPROVED protein-coding ENSG00000188770 HGNC:8158 05498 605127 REVIEWED 1345705 OPN3 opsin 3 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. In addition to the visual opsins, mammals possess several photoreceptive non-visual opsins that are expressed in extraocular tissues. This gene, opsin 3, is strongly expressed in brain and testis and weakly expressed in liver, placenta, heart, lung, skeletal muscle, kidney, and pancreas. The gene may also be expressed in the retina. The protein has the canonical features of a photoreceptive opsin protein. [provided by RefSeq, Jul 2008] 1 1 1 q43 215011455 215058805 - 241756452 241803701 - 241593150 241640399 - 1580863;6480464;8554872 10234000;11401433;12063405;12242008;12477932;14623461;15489334;16710414;18240029;18344558;19626040;22313545;8889548 23596 Q6P5W7;Q9H1Y3 ABBA01033251;ABBA01033252;ABBA01033253;AF140242;AF303588;AF482426;AK310307;AL133390;AMYH02003038;BC036773;BC051900;BC062622;BC073872;BM679966;CB989739;CH471098;KF455173;NM_014322 AAD32671;AAH36773;AAH62622;AAH73872;AAK37447;AAO15715;AAO15717;EAW70097;EAW70098;EAW70099;NP_055137;Q9H1Y3 Hs.409081 1648696;1687339;1692072;1752805;1772178;2130904;2160185;2161349;2177017;2182985;2185614;2189949;2219868 99-1638;AL033675;D1S3591;KMO__6342;RH99149;SHGC-106687;SHGC-12642;SHGC-33718;SHGC-76595;SHGC-76597;SHGC-76599;SHGC-76600;SHGC-76603 ECPN;PPP1R116 OTTHUMP00000037645;encephalopsin;opsin 3 (encephalopsin, panopsin);opsin-3 APPROVED protein-coding ENSG00000054277 HGNC:14007 05985 606695 REVIEWED 1342541 OR10A2 olfactory receptor, family 10, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7010077 7010988 + 6890986 6891897 + 6869755 6870666 + 6480464 11416212;12213199;12477932;14983052;16554811;18446592 341276 Q9H208 ABBA01028674;AC087280;AF321237;AF399490;AMYH02024275;BC136955;BK004293;BK004535;NM_001004460 AAG45207;AAI36956;DAA04691;NP_001004460;Q9H208 Hs.371762 1737597;2219238 D11S3183;OR10A2__6119 OR10A2P;OR11-82;OR11-86;OST363 OTTHUMP00000230847;hP4 olfactory receptor;olfactory receptor 10A2;olfactory receptor OR11-82 pseudogene;olfactory receptor OR11-86;olfactory receptor, family 10, subfamily A, member 2 pseudogene APPROVED protein-coding ENSG00000170790 HGNC:8161 17663 PROVISIONAL 1350333 OR10A4 olfactory receptor, family 10, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7016949 7017943 + 6897856 6898850 + 6876625 6877619 + 6480464;8554872 11416212;11705801;12213199;12477932;14983052 283297 Q6IFR1;Q9H209 ABBA01028674;AC087280;AF209506;AF321237;AF399625;AMYH02024275;BC137024;BC137027;BK004201;CH471064;NM_207186 AAG45205;AAI37025;AAI37028;AAK95110;AAL32993;DAA04599;EAW68674;NP_997069;Q9H209 Hs.448685 2219240 OR10A4__6121 JCG5;OR10A4P OTTHUMP00000230848;hP2 olfactory receptor;olfactory receptor 10A4;olfactory receptor OR11-87;olfactory receptor, family 10, subfamily A, member 4 pseudogene;olfactory receptor-like protein JCG5 APPROVED protein-coding ENSG00000170782 HGNC:15130 17664 VALIDATED 1353648 OR10A5 olfactory receptor, family 10, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6986008 6986961 + 6866914 6867867 + 6845683 6846636 + 1580863;6480464;8554872 11416212;11705801;12213199;12477932;14983052;15489334;9787077 144124 Q6IFG6;Q9H207 ABBA01028673;AC087280;AF065874;AF321237;AF324499;AF399623;AF399624;AMYH02024275;BC093651;BC093653;BK004296;CH471064;NM_178168 AAC70019;AAG45206;AAH93651;AAH93653;AAK95108;AAK95109;AAL33005;DAA04694;EAW68675;NP_835462;Q9H207 Hs.447478 5493345 UniSTS:485789 HP3;JCG6;OR10A1;OR11-403 OTTHUMP00000230846;olfactory receptor 10A1;olfactory receptor 10A5;olfactory receptor 11-403;olfactory receptor OR11-85;olfactory receptor, family 10, subfamily A, member 1;olfactory receptor-like protein JCG6 APPROVED protein-coding ENSG00000166363 HGNC:15131 16339 608493 PROVISIONAL 69478 OPRK1 opioid receptor, kappa 1 ENCODES a protein that exhibits dynorphin receptor activity; opioid receptor activity; INVOLVED IN adenylate cyclase-inhibiting opioid receptor signaling pathway; defense response to virus; immune response; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane; integral component of plasma membrane; INTERACTS WITH (S)-nicotine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 8 8 8 q11.2 50129111 50155030 - 54138276 54164257 - 53225716 53251697 - 1580863;6480464;8554872 10871647;10959409;11069979;11223000;11316510;11931835;12004055;12413885;12477932;12815037;14702039;14718611;14745298;15070904;15086532;15489334;15608558;15952771;16053916;16331961;16431922;16924269;17121830;17373729;17374034;17538007;17622222;17702750;17711303;18212250;18213616;18240029;18319328;18338799;18353307;18518925;18537939;18577758;18767415;19032295;19058789;19086053;19804796;19874574;20468064;20734064;21388957;21447649;21483469;21666232;22138325;22200678;22437504;22730276;22752269;22764240;22989890;23086943;23277131;23392455;23574786;23962922;23967269;23995774;24121503;24405578;24616919;25141394;7624359;7869844;7929306;8060324;8188308;8755601;9572309 4986 E5RJI5;P41145 ABBA01041714;AC009646;AF498922;AK023198;AK310233;AK310407;AK313058;AMYH02017980;AMYH02017981;AY168006;AY466378;BC099912;BF061371;CH471068;KF458756;L36130;L37362;NM_000912;NM_001282904;U11053;U16860;U17298;XM_005251252 AAA20985;AAA56758;AAA63646;AAA63906;AAC50158;AAH99912;AAM21070;AAN87342;AAR36879;BAG35888;EAW86723;NP_000903;NP_001269833;P41145;XP_005251309 Hs.106795 1680298;1682059;2157542;2178596;2185279;2217688;5015619;5015961;5037552 A006N31;D11S3114;D15S1477;D8S2279;OPRK1_3342;RH66816;RH70574;RH92303;STS-R31938 K-OR-1;KOR;KOR-1;OPRK OTTHUMP00000226313;OTTHUMP00000226316;Opiate receptor, kappa-1;kappa opioid receptor;kappa-type opioid receptor protein-coding ENSG00000082556 HGNC:8154 01309 165196 VALIDATED 1344283 OR10A6 olfactory receptor, family 10, subfamily A, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 8064777 8065721 - 7949265 7950209 - 7927718 7928662 - 1580863;6480464;8554872 14983052 390093 Q8NH24;Q8NH74 AB065515;AB065588;ABBA01028684;AC044810;AMYH02024287;BK004403;CH471064;NM_001004461 AAI56509;BAC05763;BAC05817;DAA04801;EAW68642;NP_001004461;Q8NH74 Hs.528593 2219242 OR10A6__6122 OR11-96 OTTHUMP00000230687;olfactory receptor 10A6;olfactory receptor OR11-96 APPROVED protein-coding ENSG00000175393;ENSG00000279000 HGNC:15132 14882 PROVISIONAL 1351222 OR10A3 olfactory receptor, family 10, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 8075635 8076579 - 7960123 7961067 - 7938576 7939520 - 6480464;8554872 12213199;12477932;1370859;14983052;16554811;23042114 26496 P58181;Q8NG90 AB065768;AB065940;ABBA01028684;AC044810;AF399634;AMYH02024287;BC137031;BC137032;BK004404;CH471064;NM_001003745;X64986 AAI37032;AAI37033;AAK95119;BAC05988;BAC06155;DAA04802;EAW68641;NP_001003745;P58181 Hs.381322 HSHTPCRX12;HTPCRX12 OTTHUMP00000230688;olfactory receptor 10A3;olfactory receptor OR11-97 APPROVED protein-coding ENSG00000170683 HGNC:8162 14881 PROVISIONAL 736202 OPTN optineurin This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 10 10 10 p13 13068965 13107102 + 13141425 13180291 + 13100075 13138291 + 1600995;6480502;6480464;6480507;6480510;6480509;6480504;6480506;6480512;6480513;6480505;6480499;7240710;7775043;7775041;7775049;7775024;7771548;7775038;8554872;8699517 11834836;14627677;15226658;15557444;16020311;16109995;16148883;16361812;19096531;19172505;20388642;20428114;20436471;21360076;21613650;21825243;22318854 10366446;10756201;10807909;11137014;11495908;12379221;12477932;12646749;12811537;12912697;12920093;12939304;14597044;14702039;14740994;14755458;15164054;15231748;15326130;15370540;15489334;15498064;15837803;15840729;15851979;15867431;16043855;16091361;16189514;16205626;16358725;16374045;16385451;16440206;16681888;16688110;16885188;16885925;16905101;16972651;16988596;17081983;17122126;17148662;17293779;17563717;17615537;17626244;17646400;17663725;17702576;17854769;18029348;18195223;18307994;18385781;18552856;18683701;18685082;19145250;19285159;19340308;19609363;19615732;19702578;19710941;19754948;19820708;20085643;20161783;20174559;20195357;20301623;20379614;20604900;20634958;20668460;20671613;20801516;20839008;21059646;21074290;21074902;21139048;21148290;21217154;21220178;21284751;21408173;21550138;21617041;21623375;21644038;21764520;21802176;21852022;21862579;21890473;21903422;21906983;21963094;21988832;22040667;22101367;22364875;22365832;22402017;22422156;22675546;22690120;22708870;22796589;22854040;22860700;22863883;22892313;23000965;23062601;23178947;23275563;23282279;23357852;23732909;23805866;23811275;24056041;24085347;24683533;24816145;24983867;25026213;8619474;9110174;9488477;9497264;9700202 10133 H7C1H4;Q96CV9;X6RKL2 ABBA01034632;ABBA01034633;ABBA01034634;AF049614;AF061034;AF070533;AF283527;AF420371;AF420372;AF420373;AK055403;AK122746;AK303715;AK316171;AL355355;AMYH02022167;AMYH02022168;AMYH02022169;AMYH02022170;BC013876;BC032762;BI552635;CH471072;KF459532;NG_012876;NM_001008211;NM_001008212;NM_001008213;NM_021980;XM_005252336;XM_005252337;XM_005252338 AAC16046;AAC16047;AAC26850;AAG00497;AAH13876;AAH32762;AAL76327;AAL76328;AAL76329;ABM84577;ABM86746;BAG51512;BAG64696;BAH14542;EAW86301;EAW86302;EAW86303;EAW86304;EAW86305;EAW86306;EAW86307;EAW86308;EAW86309;NP_001008212;NP_001008213;NP_001008214;NP_068815;Q96CV9;XP_005252393;XP_005252394;XP_005252395 Hs.332706 1653021;1695316;1736010;1775362;1781954;2140651;2158488;2172845 172;A006T03;D10S1275E;D10S1295E;RH11306;RH70007;SHGC-133063;SHGC-63482 ALS12;FIP-2;FIP2;GLC1E;HIP-7;HIP7;HYPL;NRP;TFIIIA-INTP E3-14.7K-interacting protein;Huntingtin interacting protein L;OTTHUMP00000019124;OTTHUMP00000019125;OTTHUMP00000019126;OTTHUMP00000019127;OTTHUMP00000019128;OTTHUMP00000019129;huntingtin yeast partner L;huntingtin-interacting protein 7;huntingtin-interacting protein L;nemo-related protein;optic neuropathy-inducing protein;transcription factor IIIA-interacting protein;transcrption factor IIIA-interacting protein;tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains APPROVED protein-coding ENSG00000123240 HGNC:17142 03891 137760;602432;606657;613435 REVIEWED 1350101 OR10AB1P olfactory receptor, family 10, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7865464 7866401 + 7749948 7750885 + 7728401 7729338 + 12213199;14983052 390091 Q8NGM4 AB065766;ABBA01028682;AC021427;AF399452;AMYH02024284;BK004574;NG_004153 APPROVED pseudo HGNC:14804 INFERRED 1347264 OR10AE1P olfactory receptor, family 10, subfamily AE, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132620813 132621410 - 159551413 159552010 - 159581623 159582220 - 81486 ABBA01016619;AL606752;AMYH02002013;NG_004277 OR10AE2P APPROVED pseudo HGNC:14990 INFERRED 1348991 OR10AA1P olfactory receptor, family 10, subfamily AA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131848560 131849493 - 158778192 158779125 - 158808402 158809335 - 6480464 81487 ABBA01016624;AL513205;AMYH02002007;NG_004278 APPROVED pseudo HGNC:14989 INFERRED 1352805 OR10AF1P olfactory receptor, family 10, subfamily AF, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12 53055773 53056577 - 55715595 55716399 - 55948119 55948923 - 282769 ABBA01021460;AMYH02024830;AP003033;NG_004298 APPROVED pseudo HGNC:19606 INFERRED 1350024 OR10AG1 olfactory receptor, family 10, subfamily AG, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53075208 53076113 - 55735034 55735939 - 55967558 55968463 - 1580863;6480464;8554872 12477932;14983052 282770 Q8NH19 AB065594;ABBA01021460;AMYH02024830;AP003033;BC136890;BC136891;BK004519;CH471076;CS248588;NM_001005491 AAI36891;AAI36892;BAC05822;CAJ56810;DAA04917;EAW73692;NP_001005491;Q8NH19 Hs.554525 OR11-160 OTTHUMP00000234211;olfactory receptor 10AG1;olfactory receptor OR11-160 APPROVED protein-coding ENSG00000174970 HGNC:19607 14885 PROVISIONAL 1346847 OR10A7 olfactory receptor, family 10, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55266664 55267614 + 55614809 55615759 + 55221025 55221975 + 1580863;6480464;8554872 12213199;14983052;24152035 121364 Q8NGE5 AB065864;ABBA01008382;AC090048;AF399626;AMYH02026545;BK004327;CH471054;CS248122;NM_001005280 AAK95111;BAC06082;CAJ56588;DAA04725;EAW96804;NP_001005280;Q8NGE5 Hs.554557 OR12-6 OTTHUMP00000242320;olfactory receptor 10A7;olfactory receptor OR12-6 APPROVED protein-coding ENSG00000179919 HGNC:15329 14883 PROVISIONAL 1353230 OR10AC1 olfactory receptor, family 10, subfamily AC, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138045062 138046440 - 143208060 143209004 - 143510967 143511911 - 14983052 392133 Q8NH08 AB065605;ABBA01034138;AC073264;AMYH02016936;CH236959;NG_004374 BAC05833;EAL23791;Q8NH08 1718353 RH122948 OR10AC1 APPROVED pseudo HGNC:14758 INFERRED 1352142 OR10AK1P olfactory receptor, family 10, subfamily AK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q 53064868 53065282 - 55724691 55725105 - 55957215 55957629 - 403224 ABBA01021460;AMYH02024830;AP003033;NG_004402 APPROVED pseudo HGNC:31236 INFERRED 1346669 OR10AE3P olfactory receptor, family 10, subfamily AE, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55692453 55692921 - 56039978 56040446 - 55646194 55646662 - 403223 ABBA01008383;AC009779;AMYH02026546;NG_004401 APPROVED pseudo HGNC:31235 INFERRED 1342490 OR10B1P olfactory receptor, family 10, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 15147453 15149690 - 15251943 15252849 - 15141132 15142038 - 6480464 9500546 401903 AB065575;ABBA01051097;AC003956;AC004794;AMYH02035642;NG_002201 AAC18916 OR10B2 APPROVED pseudo HGNC:8163 INFERRED 1319909 OR10AD1 olfactory receptor, family 10, subfamily AD, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47393691 47394645 - 48595620 48599103 - 48201837 48205320 - 1580863;6480464 12213199;12477932;14983052 121275 Q8NGE0 AB065872;ABBA01031477;AC024257;AF399474;AMYH02026419;BC136757;BC136758;BK004354;CH471111;CS248150;NM_001004134;XM_005268641 AAI36758;AAI36759;BAC06090;CAJ56602;DAA04752;EAW57978;NP_001004134;Q8NGE0;XP_005268698 Hs.446790 2219244 OR10AD1__6124 OR10AD1P;OR12-1 OTTHUMP00000237620;olfactory receptor 10AD1;olfactory receptor OR12-1;olfactory receptor, family 10, subfamily AD, member 1 pseudogene APPROVED protein-coding HGNC:14819 11812;14884 PROVISIONAL 1353336 OR10C1 olfactory receptor, family 10, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 31013835 31014773 + 29407716 29408754 + 29439939 29440977 + 6480464 12213199;12477932;12637542;14574404;14983052;19833159 442194 Q6IFQ5;Q96KK4 ABBA01038032;AF399627;AJ459860;AL035542;AL049739;AL645927;AL662869;AMYH02013411;BC136996;BC136997;BK004207;BX004810;BX248400;BX927133;CH471081;CR388393;CR759768;CR848056;NM_013941 AAI36997;AAI36998;AAK95112;CAB44507;DAA04605;EAX03194;NP_039229;Q96KK4 Hs.631997 OR10C1P;OR10C2;OR6-31;hs6M1-17 OTTHUMP00000029294;olfactory receptor 10C1;olfactory receptor 10C2;olfactory receptor OR6-31;olfactory receptor, family 10, subfamily C, member 2;seven transmembrane helix receptor APPROVED protein-coding ENSG00000206474;ENSG00000279941 HGNC:8165 14886 VALIDATED 1352383 OR10D1P olfactory receptor, family 10, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121188269 121189201 + 124029129 124030061 + 124158422 124159354 + 6480464 1370859 26541 ABBA01031263;AMYH02025719;AP000818;NG_004126;X64981 Hs.512487 1338693;7187817 D11S1328 HTPCRX03;OR10D2P;OST074 APPROVED pseudo HGNC:8166 INFERRED 1354061 OR10D3 olfactory receptor, family 10, subfamily D, member 3 (non-functional) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121215113 121216048 + 124055978 124056913 + 124185271 124186206 + 6480464 1370859;14983052 26497 Q8NH80 AB065509;ABBA01031262;AMYH02025719;AP000818;BK004425;NG_004125;X64983 BAC05757;DAA04823;Q8NH80 Hs.538726 HTPCRX09;OR10D3P APPROVED pseudo HGNC:8168 INFERRED 1344456 OR10D5P olfactory receptor, family 10, subfamily D, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121084685 121085618 + 123925500 123926433 + 124054793 124055726 + 79488 ABBA01031265;AC019108;AMYH02025719;AP001884;NG_002254 5118207 D11S3098 APPROVED pseudo HGNC:14838 INFERRED 1323425 OR10AH1P olfactory receptor, family 10, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 5116071 5117069 + 5156721 5157719 + 5117090 5118088 + 9847074 402246 ABBA01039440;AC092028;AMYH02015128;NG_004397 APPROVED pseudo HGNC:19647 INFERRED 1354039 OR10D4P olfactory receptor, family 10, subfamily D, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121123287 121124583 - 123964143 123965439 - 124093436 124094732 - 6480464 390266 Q8NGN7 AB065753;ABBA01031264;AMYH02025719;AP000818;NG_003196 BAC05973;Q8NGN7 OR10D4;OR10D6P APPROVED pseudo HGNC:14770 INFERRED 1343948 OR10G2 olfactory receptor, family 10, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1965415 1966347 - 22102066 22102998 - 21633910 21634842 - 1580863;6480464;8554872 12477932;14983052;8188290;9110172 26534 Q8NGC3 AB065894;ABBA01061264;AC243972;AE000658;BC137371;BC137382;BK004670;CH471078;NG_001332;NM_001005466 AAI37372;AAI37383;BAC06110;EAW66374;NP_001005466;Q8NGC3 Hs.554580 OR14-41 OTTHUMP00000239713;olfactory receptor 10G2;olfactory receptor OR14-41 pseudogene APPROVED protein-coding ENSG00000255582 HGNC:8170 14887 VALIDATED 1346604 OR10G3 olfactory receptor, family 10, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1901276 1902217 - 22037934 22038875 - 21569803 21570744 - 1580863;6480464 12213199;14983052;23824909;8188290;9110172 26533 Q8NGC4 AB065893;ABBA01061260;AC243972;AE000521;AE000658;AF399566;AMYH02028845;BK004525;CH471078;NG_001332;NM_001005465 AAI56815;AAK95051;BAC06109;DAA04923;EAW66376;NP_001005465;Q8NGC4 Hs.554581 OR14-40 OTTHUMP00000239712;olfactory receptor 10G3;olfactory receptor OR14-40 APPROVED protein-coding ENSG00000169208 HGNC:8171 14888 VALIDATED 1349061 OR10G4 olfactory receptor, family 10, subfamily G, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121045471 121046406 + 123886282 123887217 + 124015575 124016510 + 1580863;6480464;8554872 14983052;20379614;24316890 390264 Q8NGN3 AB065757;ABBA01031265;AC019108;AMYH02025719;AP001884;BK004502;CH471065;CS248296;NM_001004462 BAC05977;CAJ56671;DAA04900;EAW67565;NP_001004462;Q8NGN3 Hs.553760 2219246 OR10G4__6125 OR11-278 OTTHUMP00000231617;olfactory receptor 10G4;olfactory receptor OR11-278 APPROVED protein-coding ENSG00000254737 HGNC:14809 14889 PROVISIONAL 1354122 OR10G6 olfactory receptor, family 10, subfamily G, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121024066 121024824 - 123864873 123865631 - 123994166 123994924 - 6480464 14983052 79490 Q8NH81 AB065508;ABBA01031265;AC019108;AMYH02025719;AP001884;BK004312;NG_002255 BAC05756;DAA04710;Q8NH81 1756529;1857094 D11S4958;SHGC-143560 OR10G6P;OR10G6Q APPROVED pseudo HGNC:14836 INFERRED 737513 OPRM1 opioid receptor, mu 1 This gene encodes one of at least three opioid receptors in humans; the mu opioid receptor (MOR). The MOR is the principal target of endogenous opioid peptides and opioid analgesic agents such as beta-endorphin and enkephalins. The MOR also has an important role in dependence to other drugs of abuse, such as nicotine, cocaine, and alcohol via its modulation of the dopamine system. The NM_001008503.2:c.118A>G allele has been associated with opioid and alcohol addiction and variations in pain sensitivity but evidence for it having a causal role is conflicting. Multiple transcript variants encoding different isoforms have been found for this gene. Though the canonical MOR belongs to the superfamily of 7-transmembrane-spanning G-protein-coupled receptors some isoforms of this gene have only 6 transmembrane domains. [provided by RefSeq, Oct 2013] 6 6 6 q24-q25 155066098 155302376 + 154331631 154568001 + 154010496 154246867 + 2316630;2316601;2316609;2316611;2316626;2316589;6480464;6484113;8554872 12710986;16176345;16901587;17360495;17553897;19298846 10336124;10393893;10656608;10682855;10690754;10874510;11060299;11069979;11076532;11092766;11140838;11278523;11338173;11424981;11445868;11457836;11751037;11840318;11933204;12031654;12068084;12123746;12141912;12142540;12210283;12357145;12413885;12477932;12519790;12589820;12627468;12648891;12657887;12734358;12810704;12813472;12815747;12898579;12960749;14530949;14532289;14573758;14623376;14744466;14745298;15007373;15037869;15086532;15167694;15194868;15252283;15322094;15448191;15448587;15489334;15494033;15504181;15525999;15542732;15558714;15608594;15704610;15731588;15772909;15893644;15902904;15933215;15988758;16046395;16053916;16103897;16122888;16123758;16133302;16140553;16315033;16387451;16400534;16402083;16435402;16476706;16542645;16580639;16580900;16679777;16682632;16794569;16808998;16842630;16843022;16846840;16871067;16879459;16892066;16914208;16960700;17000822;17005904;17054695;17126529;17156920;17157823;17201465;17207095;17224915;17374034;17395891;17416470;17497362;17503481;17578917;17592483;17635908;17680363;17768272;17855614;17877633;17898703;17978999;17979515;17990281;18004207;18028530;18181266;18182056;18195715;18213616;18240029;18250251;18250953;18319252;18338799;18341216;18349186;18384978;18403122;18411709;18419726;18433502;18455254;18482155;18499348;18518884;18518925;18523482;18537939;18540916;18574501;18574543;18577758;18579306;18650805;18676680;18687376;18690117;18690118;18709298;18719451;18795264;18803909;19008867;19016889;19018716;19032295;19053977;19058789;19074885;19077058;19086053;19103668;19119631;19164126;19167252;19170196;19219857;19240053;19272466;19282821;19303332;19336370;19336912;19341791;19416973;19438807;19447888;19501658;19519662;19520863;19523047;19528663;19542234;19545447;19573600;19581571;19598235;19604083;19605407;19609488;19625176;19666113;19683391;19692168;19706472;19764432;19764934;19775452;19783098;19791836;19845769;19860800;19874574;19891732;19956635;19959593;19959688;20003118;20074870;20107485;20110084;20112002;20171873;20194481;20230086;20237803;20379614;20384434;20411349;20424473;20468064;20478633;20479755;20486014;20525224;20528823;20560679;20668445;20734064;20828825;20842020;20980951;21029375;21037510;21039348;21039637;21049025;21049484;21070507;21127283;21150856;21156980;21158011;21160491;21215785;21219331;21220103;21277709;21326192;21347282;21361347;21454526;21483469;21507151;21569838;21576462;2159143;21684020;21742765;21810780;21837673;21849544;21864297;21895723;21906503;21912675;21919606;21953467;21957825;22071118;22101356;22102648;22138325;22143634;22198722;22209801;22211341;22217949;22230405;22240251;22260295;22309038;22343475;22375000;22397905;22406240;22433205;22436571;22457278;22515274;22516252;22527985;22551036;22560877;22682732;22717102;22718527;22744787;22752269;22752309;22752568;22781865;22784013;22796651;22798433;22815498;22841130;22875838;22882391;22909206;22914673;22925223;22990223;22992838;23032071;23136901;23144877;23222260;23223006;23240711;23254216;23260451;23273101;23302985;23313934;23314748;23318993;23337944;23376103;23402298;23405975;23454283;23503369;23557865;23560613;23566343;23592691;23597934;23632726;23651028;23670889;23686330;23702428;23703421;23726045;23729673;23734559;23760268;23836900;23876228;23900681;23909491;23951073;24086514;24236490;24292274;24413261;24446757;24447405;24874699;25141394;7488213;7891175;7905839;7957926;8208289;8393523;9242668;9312100;9399694;9572309;9689128 4988 B8K2Q5;E7EW71;G8XRH4;G8XRH5;L0E130;P35372 ABBA01025599;ABBA01025600;ABBA01025601;ABBA01025602;AF024515;AF024516;AF024517;AF153500;AF547997;AK309655;AK313901;AL132774;AL136444;AL359850;AL445220;AMYH02014759;AY036622;AY036623;AY195733;AY225404;AY292290;AY292291;AY299483;AY309001;AY309005;AY309006;AY309007;AY309008;AY309009;AY364230;AY364890;AY521028;AY587764;BC074927;CH471051;DQ680044;EF666090;EU340241;EU340242;EU340243;EU360599;EU362990;FJ041290;FJ041291;FJ041292;FJ041293;FJ041294;GQ258059;HQ699462;JX914655;KF510943;L25119;L29301;NG_021208;NM_000914;NM_001008503;NM_001008504;NM_001008505;NM_001145279;NM_001145280;NM_001145281;NM_001145282;NM_001145283;NM_001145284;NM_001145285;NM_001145286;NM_001145287;NM_001285522;NM_001285523;NM_001285524;NM_001285526;NM_001285527;NM_001285528;NR_104348;NR_104349;NR_104350;NR_104351;U12569;XM_006715496;XM_006715497 AAA20580;AAA73958;AAB60354;AAC51877;AAC51878;AAD44318;AAH74927;AAK74189;AAK74190;AAO21305;AAP44409;AAP44410;AAP44727;AAP58255;AAQ12260;AAQ77385;AAQ77389;AAQ77390;AAQ77391;AAQ77392;AAQ77393;AAR11568;AAR12887;AAS00462;AAS83107;ABH03503;ABY61366;ABY66530;ACA49726;ACA49727;ACA49728;ACM90348;ACM90349;ACM90350;ACM90351;ACM90352;ACT35692;AET97615;AGA35553;BAG36624;EAW47704;EAW47705;NP_000905;NP_001008503;NP_001008504;NP_001008505;NP_001138751;NP_001138752;NP_001138753;NP_001138754;NP_001138755;NP_001138756;NP_001138757;NP_001138758;NP_001138759;NP_001272451;NP_001272452;NP_001272453;NP_001272455;NP_001272456;NP_001272457;P35372;XP_006715559;XP_006715560 Hs.2353 1655419;1657499;1662140;1709888;1726349;1768179;1797162;2121733 D6S1836;D6S2185;G62475;OPRM1;RH46629;SHGC-84785;WI-17899;WI-20576 KIAA0403;LMOR;M-OR-1;MOP;MOR;MOR1;OPRM;hMOP OTTHUMP00000017463;OTTHUMP00000017464;OTTHUMP00000225129;OTTHUMP00000225131;OTTHUMP00000225132;OTTHUMP00000225133;OTTHUMP00000225135;OTTHUMP00000225136;OTTHUMP00000225139;OTTHUMP00000225164;OTTHUMP00000225165;OTTHUMP00000225166;OTTHUMP00000225167;OTTHUMP00000225168;OTTHUMP00000225169;OTTHUMP00000225170;micro opioid receptor isoform hMOR-1A2;mu opiate receptor;mu opioid receptor hMOR-1a;mu opioid receptor splice variant hMOR-1S;mu opioid receptor splice variant hMOR-1Y2;mu opioid receptor splice variant hMOR-1Y3;mu opioid receptor splice variant hMOR-1Z;mu opioid receptor splice variant hMOR-1b;mu-type opioid receptor APPROVED protein-coding ENSG00000112038 HGNC:8156 02484 600018 REVIEWED 1349215 OR10G9 olfactory receptor, family 10, subfamily G, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121052909 121053844 + 123893720 123894655 + 124023013 124023948 + 1580863;6480464;8554872 14983052 219870 Q8NGN4 AB065756;ABBA01031265;AMYH02025719;AP001884;BK004760;CH471065;NM_001001953 BAC05976;EAW67566;NP_001001953;Q8NGN4 Hs.553636 1761657;1782464;2219246 OR10G4__6125;SHGC-145641;SHGC-155984 OR10G10P OTTHUMP00000231618;olfactory receptor 10G10;olfactory receptor 10G9;olfactory receptor OR11-272 APPROVED protein-coding ENSG00000236981 HGNC:15129 17666 PROVISIONAL 1346605 OR10G8 olfactory receptor, family 10, subfamily G, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121059519 121060454 + 123900330 123901265 + 124029623 124030558 + 1580863;6480464;8554872 12477932;14983052 219869 Q8NGN5 AB065755;ABBA01031265;AC019108;AMYH02025719;AP001884;BC136917;BC136920;BK004510;BK004571;CH471065;CS248300;NM_001004464 AAI36918;AAI36921;BAC05975;CAJ56673;DAA04908;EAW67567;NP_001004464;Q8NGN5 Hs.553635 OR11-274;OR11-282 OTTHUMP00000231619;olfactory receptor 10G8;olfactory receptor OR11-274 pseudogene;olfactory receptor OR11-282 APPROVED protein-coding ENSG00000234560 HGNC:14845 17665 PROVISIONAL 1349001 OR10G1P olfactory receptor, family 10, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1933285 1934425 - 22069935 22071076 - 21601785 21602925 - 8188290;9110172 26540 ABBA01061261;AC243972;AE000521;AE000658;NG_001332;NG_027250 APPROVED pseudo HGNC:8169 REVIEWED 1353755 OR10G5P olfactory receptor, family 10, subfamily G, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121039408 121040312 + 123880219 123881123 + 124009512 124010416 + 79515 ABBA01031265;AC019108;AMYH02025719;AP001884;NG_002261 APPROVED pseudo HGNC:14811 INFERRED 1350293 OR10H2 olfactory receptor, family 10, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15736742 15737770 + 15838834 15839862 + 15728024 15729052 + 1580863;6480464;8554872 12213199;12477932;14983052;15057824;15489334 26538 O60403 ABBA01051121;AC004597;AC104533;AF399585;AMYH02035664;BC069085;BC069457;BC112178;BC113647;BK004211;CH471106;NM_013939 AAC14388;AAH69085;AAH69457;AAI12179;AAI13648;AAK95070;ADR82894;DAA04609;EAW84502;NP_039227;O60403 Hs.247694 5492671;5493505 UniSTS:481975;UniSTS:486947 MGC138383 olfactory receptor 10H2;olfactory receptor OR19-23 APPROVED protein-coding ENSG00000171942 HGNC:8173 17668 VALIDATED 731778 OPCML opioid binding protein/cell adhesion molecule-like This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily. The encoded protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q25 129456242 130574897 - 132284875 133402403 - 132414981 133532508 - 1580863;6480464;7240710;8554872 12477932;12819783;1333602;14702039;15146195;15489334;16384911;17109515;17159813;17239010;17500595;17903308;17967182;18179137;18584347;18714356;19913121;20379614;20628086;21273058;21833655;22585860;22589738;23144326;23275563;23470693;23942779;23966867;24529757;24839818;7721093;7891157;8244387;8619474;9110174 4978 A8K0Y0;B2CZX3;B7ZLQ0;Q14982 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32;REN41533;REN41534;REN41535;REN41536;REN41537;REN41538;REN41539;REN41540;REN41541;REN41542;REN41543;REN41544;REN41545;REN41546;REN41547;REN41548;REN41549;REN41550;REN41551;REN41552;REN41553;REN41554;REN41555;REN41556;REN41557;REN41558;REN41559;REN41560;REN41561;REN41562;REN41563;REN41564;REN41565;REN41566;REN41567;REN41568;REN41569;REN41570;REN41571;REN41572;REN41573;REN41574;REN41575;REN41576;REN41577;REN41578;REN41579;REN41580;REN41581;REN41582;REN41583;REN41584;REN41585;REN41586;REN41587;REN41588;REN41589;REN41590;REN41591;REN41592;REN41593;REN41594;REN41595;REN41596;REN41597;REN41598;REN41599;REN41600;REN41601;REN41602;REN41603;REN41604;REN41605;REN41606;REN41607;REN41608;REN41609;REN41610;REN41611;REN41612;REN41613;REN41614;REN41615;REN41616;REN41617;REN41618;REN41619;REN41620;REN41621;REN41622;REN41623;REN41624;REN41625;REN41626;REN41627;REN41628;REN41629;REN41630;REN41631;REN41632;REN41633;REN41634;REN41635;REN41636;REN41637;REN41638;REN41639;REN41640;REN41641;REN41642;REN41643;REN41644;REN41645;REN41646;REN41647;REN41648;REN41649;REN41650;REN41651;REN41652;REN41653;REN41654;REN41655;REN41656;REN41657;REN41658;REN41659;REN41660;REN41661;REN41662;REN41663;REN41664;REN41665;REN41666;REN41667;REN41668;REN41669;REN41670;REN41671;REN41672;REN41673;REN41674;REN41675;REN41676;REN41677;REN41678;REN41679;REN41680;REN41681;REN41682;REN41683;REN41684;REN41685;REN41686;REN41687;REN41688;REN41689;REN41690;REN41691;REN41692;REN41693;REN41694;REN41695;REN41696;REN41697;REN41698;REN41699;REN41700;REN41701;REN41702;REN41703;REN41704;REN41705;REN41706;REN41707;REN41708;REN41709;REN41710;REN41711;REN41712;REN41713;REN41714;REN41715;REN41716;REN41717;REN41718;REN41719;REN41720;REN41721;REN41722;REN41723;REN41724;REN41725;REN41726;REN41727;REN41728;REN41729;REN41730;REN41731;REN41732;REN41733;REN41734;REN41735;REN41736;REN41737;REN41738;REN41740;REN41741;REN41742;REN41743;REN41744;REN41745;REN41746;REN41747;REN41748;REN41749;REN41750;REN41751;REN41752;REN41753;REN41754;REN41755;REN41756;REN41757;REN41758;REN41759;REN41760;REN41761;REN41762;REN41763;REN41764;REN41765;REN41766;REN41767;REN41768;REN41769;REN41770;REN41771;REN41772;REN41773;REN41774;REN41775;REN41776;REN41777;REN41778;REN41779;REN41780;REN41781;REN41782;REN41783;REN41784;REN41785;REN41786;REN41787;REN41788;REN41789;REN41790;REN41791;REN41792;REN41793;REN41794;REN41795;REN41796;REN41797;REN41798;REN41799;REN41800;REN41801;REN41802;REN41803;REN41804;REN41805;REN41806;REN41807;REN41808;REN41809;REN41810;REN41811;REN41812;REN41813;REN41814;REN41815;REN41816;REN41817;REN41818;REN41819;REN41820;REN41821;REN41822;REN41823;REN41824;REN41825;REN41826;REN41827;REN41828;REN41829;REN41830;REN41831;REN41832;REN41833;REN41834;REN41835;REN41836;REN41837;REN41838;REN41839;REN41840;REN41841;REN41842;REN41843;REN41844;REN41845;REN41846;REN41847;REN41848;REN41849;REN41850;REN41851;REN41852;REN41853;REN41854;REN41855;REN41856;REN41857;REN41858;REN41859;REN41860;REN41861;REN41862;REN41863;REN41864;REN41865;REN41866;REN41867;REN41868;REN41869;REN41870;REN41871;REN41872;REN41873;REN41874;REN41875;REN41876;REN41877;REN41878;REN41879;REN41880;REN41881;REN41882;REN41883;REN41884;REN41885;REN41886;REN41887;REN41888;REN41889;REN41890;REN41891;REN41892;REN41893;REN41894;REN41895;REN41896;REN41897;REN41898;REN41899;REN41900;REN41901;REN41902;REN41903;REN41904;RH104022;RH11938;RH12335;RH27768;RH48197;RH69042;RH98413;SHGC-106004;SHGC-145503;SHGC-148589;SHGC-149889;SHGC-150868;SHGC-57520;SHGC-74966;SHGC-77768;T03442;WI-9343 IGLON1;OPCM IgLON family member 1;OBCAM;OTTHUMP00000224510;OTTHUMP00000235063;OTTHUMP00000235237;opiate binding-cell adhesion molecule;opioid binding protein/cell adhesion molecule-like preprotein;opioid-binding cell adhesion molecule;opioid-binding protein/cell adhesion molecule;opioid-binding protein/cell adhesion molecule-like APPROVED protein-coding ENSG00000183715 HGNC:8143 07198 167000;600632 REVIEWED 1344862 OR10G7 olfactory receptor, family 10, subfamily G, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121067962 121068897 - 123908773 123909708 - 124038066 124039001 - 1580863;6480464 14983052 390265 Q8NGN6 AB065754;ABBA01031265;AC019108;AMYH02025719;AP001884;BK004314;CH471065;CS248092;NM_001004463 BAC05974;CAJ56573;DAA04712;EAW67568;NP_001004463;Q8NGN6 Hs.553761 1764555;2219248 OR10G7__6126;SHGC-148143 OR11-283 OTTHUMP00000231620;olfactory receptor 10G7;olfactory receptor OR11-283 APPROVED protein-coding ENSG00000182634 HGNC:14842 14890 PROVISIONAL 1347161 OR10J2P olfactory receptor, family 10, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132319076 132320033 - 159248833 159249790 - 159279043 159280000 - 391117 ABBA01016620;AL513323;AMYH02002009;NG_004364 APPROVED pseudo HGNC:14991 INFERRED 1353981 OR10J1 olfactory receptor, family 10, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132479758 132480846 + 159409512 159410600 + 159406389 159440810 + 1580863;6480464 12213199;12477932;1370859;14983052;15489334;17903293;17903294;20237162;22939635;23251661 26476 P30954 ABBA01016619;AF399587;AL513323;AL663023;AMYH02002011;BC069150;BC112290;BC112292;BK004527;CH471121;NM_012351;X64995;XM_006711271 AAH69150;AAI12291;AAK95072;CAA46128;DAA04925;EAW52784;NP_036483;P30954;XP_006711334 Hs.532661 2159910;2219258;5492569 OR10J1__6132;STS-X64995;UniSTS:481707 HGMP07J;HSHGMP07J;MGC138495;MGC138497 OTTHUMP00000024353;olfactory receptor 10J1;olfactory receptor OR1-26;olfactory receptor-like protein HGMP07J APPROVED protein-coding ENSG00000196184 HGNC:8175 17671 VALIDATED 1348904 OR10H5 olfactory receptor, family 10, subfamily H, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 15802771 15803718 + 15904859 15905806 + 15794049 15794996 + 1580863;6480464;8554872 12213199;12477932;14983052 284433 Q8NGA6 AB065920;ABBA01051123;AC011537;AF399583;AMYH02035664;BC136869;BK004271;BK004272;CH471106;CS248344;NM_001004466 AAI36870;AAK95068;BAC06135;CAJ56864;DAA04669;DAA04670;EAW84504;NP_001004466;Q8NGA6 Hs.553676 2219256 OR10H5__6131 OR19-25;OR19-26 olfactory receptor 10H5;olfactory receptor OR19-25;olfactory receptor OR19-26 APPROVED protein-coding ENSG00000172519 HGNC:15389 17670 PROVISIONAL 1343836 OR10J4 olfactory receptor, family 10, subfamily J, member 4 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132472235 132473167 + 159401995 159402926 + 159432205 159433136 + 6480464 12213199;16710414;17973576 391121 P0C629 ABBA01016619;AL663023;AMYH02002011;NG_004367 P0C629 OR10J4P;OST717 APPROVED pseudo HGNC:15408 INFERRED 1347047 OR10J3 olfactory receptor, family 10, subfamily J, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132353699 132354688 - 159283460 159284449 - 159313670 159314659 - 6480464 12213199;14983052;16710414;17903293;19372141;19423540;20237162;20406964;20438785;22075330;22939635 441911 Q5JRS4 AB065445;ABBA01016619;AF399453;AL513323;AMYH02002009;BK004532;NM_001004467 NP_001004467;Q5JRS4 Hs.553833 OR1-25;OR10J3P OTTHUMP00000035341;olfactory receptor 10J3;olfactory receptor OR1-25 pseudogene;olfactory receptor, family 10, subfamily J, member 3 pseudogene APPROVED protein-coding ENSG00000196266 HGNC:14992 17672 PROVISIONAL 1348573 OR10J6P olfactory receptor, family 10, subfamily J, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132637484 132638410 + 159568089 159569015 + 159598299 159599225 + 12213199 401973 Q8NGY7 AB065629;ABBA01016619;AL445528;AMYH02002013;NG_004393 BAC05855;Q8NGY7 2178795;2181383 RH44880;RH45348 OR10J6 APPROVED pseudo HGNC:14994 INFERRED 1349799 OR10J8P olfactory receptor, family 10, subfamily J, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132406189 132407114 + 159335951 159336876 + 159366161 159367086 + 343409 ABBA01016619;AL513323;AMYH02002009;NG_004308 APPROVED pseudo HGNC:19638 INFERRED 1349334 OR10J9P olfactory receptor, family 10, subfamily J, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132445440 132446426 - 159375212 159376198 - 159405422 159406408 - 391120 ABBA01016619;AL513323;AMYH02002011;NG_004366 APPROVED pseudo HGNC:19639 INFERRED 1344881 OR10H4 olfactory receptor, family 10, subfamily H, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 15959220 15960170 + 16059818 16060768 + 15949008 15949958 + 1580863;6480464;8554872 12213199;14983052 126541 Q8NGA5 AB065921;ABBA01051126;AC011517;AF399586;AMYH02035666;BK004270;CH471106;CS248352;NM_001004465 AAK95071;BAC06136;CAJ56696;DAA04668;EAW84516;NP_001004465;Q8NGA5 Hs.553579 2219254 OR10H4__6130 OR19-28 olfactory receptor 10H4;olfactory receptor OR19-28 APPROVED protein-coding ENSG00000176231 HGNC:15388 14891 VALIDATED 1353311 OR10H1 olfactory receptor, family 10, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15815749 15816868 - 15917817 15918936 - 15807007 15808126 - 1580863;6480464 12213199;12477932;14983052;15057824 26539 Q9Y4A9 ABBA01051124;AC004510;AC114267;AF399584;AMYH02035665;BC130360;BC132969;BK004210;CH471106;NM_013940 AAC08454;AAI30361;AAI32970;AAK95069;ADR83358;DAA04608;EAW84505;NP_039228;Q9Y4A9 Hs.533925 2219250;5492485;5493793 OR10H1__6127;UniSTS:481252;UniSTS:494841 olfactory receptor 10H1;olfactory receptor OR19-27 APPROVED protein-coding ENSG00000186723 HGNC:8172 17667 VALIDATED 1348272 OR10H3 olfactory receptor, family 10, subfamily H, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15750107 15751057 + 15852203 15853153 + 15741393 15742343 + 1580863;6480464 12477932;12665801;14983052;15057824;15489334;19460752 26532 O60404 ABBA01051121;AC004597;AMYH02035664;BC106707;BC113844;BK004212;CH471106;NM_013938 AAC14389;AAI06708;AAI13845;DAA04610;EAW84503;NP_039226;O60404 Hs.553524 2219252;5492801 OR10H3__6129;UniSTS:482689 MGC119147;MGC119149 olfactory receptor 10H3;olfactory receptor OR19-24 APPROVED protein-coding ENSG00000171936 HGNC:8174 17669 PROVISIONAL 1349498 OR10K2 olfactory receptor, family 10, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131460762 131461700 - 158389718 158390656 - 158419928 158420866 - 1580863;6480464 14983052;16710414 391107 Q6IF99;Q8NGX4 AB065642;ABBA01016628;AL121986;AMYH02002002;BK004363;CH471121;CS248206;NM_001004476 BAC05868;CAJ56628;DAA04761;EAW52826;NP_001004476;Q6IF99 Hs.626815 2219260 OR10K2__6135 OR1-4 OTTHUMP00000021118;olfactory receptor 10K2;olfactory receptor OR1-4 APPROVED protein-coding ENSG00000180708 HGNC:14826 14894 PROVISIONAL 1353700 OR10N1P olfactory receptor, family 10, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121134907 121135829 - 123975759 123976681 - 124105052 124105974 - 390267 ABBA01031264;AMYH02025719;AP000818;NG_004339 APPROVED pseudo HGNC:14689 INFERRED 1352906 OR10Q1 olfactory receptor, family 10, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55353777 55354813 - 57995354 57996390 - 58227882 58228918 - 1580863;6480464 12477932;14983052 219960 Q8NGQ4 AB065735;ABBA01021486;AMYH02024858;AP004247;BC140731;BK004298;CH471076;CS248100;NM_001004471 AAI40732;BAC05956;CAJ56577;DAA04696;EAW73801;NP_001004471;Q8NGQ4 Hs.553646 OR11-233 OTTHUMP00000235990;olfactory receptor 10Q1;olfactory receptor OR11-233 APPROVED protein-coding ENSG00000180475 HGNC:15134 17673 VALIDATED 1349251 OR10J5 olfactory receptor, family 10, subfamily J, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132574270 132575199 - 159504868 159505797 - 159535078 159536007 - 1580863;8554872 12477932;12908129;14983052;17903294;22939635;23251661 127385 Q86UG6;Q8NHC4 AB065443;ABBA01016619;AL606752;AMYH02002012;AY284357;AY284358;AY284359;AY284360;AY284361;AY284362;AY284363;AY284364;AY284365;AY284366;AY284367;AY284368;AY284369;AY284370;AY284371;AY284372;AY284373;AY284374;AY284375;AY284376;AY284377;AY284378;AY284379;AY284380;AY284381;AY284382;AY284383;AY284384;AY284385;AY284386;AY284387;AY284388;BC137025;BC137026;BK004290;CH471121;CS248146;NM_001004469 AAI37026;AAI37027;AAP32607;AAP32608;AAP32609;AAP32610;AAP32611;AAP32612;AAP32613;AAP32614;AAP32615;AAP32616;AAP32617;AAP32618;AAP32619;AAP32620;AAP32621;AAP32622;AAP32623;AAP32624;AAP32625;AAP32626;AAP32627;AAP32628;AAP32629;AAP32630;AAP32631;AAP32632;AAP32633;AAP32634;AAP32635;AAP32636;AAP32637;AAP32638;BAC05709;CAJ56600;DAA04688;EAW52783;NP_001004469;Q8NHC4 Hs.553587 OR1-28 OTTHUMP00000024354;olfactory receptor 10J5;olfactory receptor OR1-28 APPROVED protein-coding ENSG00000184155 HGNC:14993 14892 PROVISIONAL 1343046 OR10Q2P olfactory receptor, family 10, subfamily Q, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55417723 55418665 - 58059301 58060243 - 58291829 58292771 - 23349640 81345 ABBA01021488;AMYH02024858;AP000435;NG_004249 APPROVED pseudo HGNC:15135 INFERRED 1354093 OR10R2 olfactory receptor, family 10, subfamily R, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131520712 131521719 + 158449668 158450675 + 158479878 158480885 + 6480464;8554872 12213199;14983052;16710414 343406 Q8NGX6 AB065640;ABBA01016627;AF399582;AL365440;AMYH02002002;BK004191;CH471121;NM_001004472 AAK95067;BAC05866;DAA04589;EAW52824;NP_001004472;Q8NGX6 Hs.451913 OR1-8;OR10R2Q OTTHUMP00000021112;olfactory receptor 10R2;olfactory receptor OR1-8 APPROVED protein-coding ENSG00000198965 HGNC:14820 17674 PROVISIONAL 1348144 OR10R3P olfactory receptor, family 10, subfamily R, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131532054 131532992 + 158461010 158461948 + 158491220 158492158 + 1580863 12213199;14983052 391110 Q8NGX7 AB065639;ABBA01016627;AF399451;AK122667;AL365440;AMYH02002002;BK004673;NG_004362 BAC05865 Hs.640254 OR1-9 APPROVED pseudo HGNC:14829 INFERRED 1349590 OR10S1 olfactory receptor, family 10, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121006598 121007593 - 123847403 123848398 - 123976696 123977691 - 6480464;8554872 12213199;12477932;14983052 219873 Q8NGN2 AB065758;ABBA01031265;AC019108;AF399565;AMYH02025719;AP001884;BC137037;BC137038;BK004509;CH471065;NM_001004474 AAI37038;AAI37039;AAK95050;BAC05978;DAA04907;EAW67563;NP_001004474;Q8NGN2 Hs.553637 OR11-279 OTTHUMP00000231616;olfactory receptor 10S1;olfactory receptor OR11-279 APPROVED protein-coding ENSG00000196248 HGNC:14807 17675 PROVISIONAL 1353132 OR10T1P olfactory receptor, family 10, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131485902 131486848 - 158414858 158415804 - 158445068 158446014 - 79514 ABBA01016628;AL365440;AMYH02002002;NG_002260 APPROVED pseudo HGNC:14812 INFERRED 1351615 OR10K1 olfactory receptor, family 10, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131506396 131507337 + 158435352 158436293 + 158465562 158466503 + 1580863;6480464;8554872 12477932;14983052;20677014 391109 Q8NGX5 AB065641;ABBA01016628;AL365440;AMYH02002002;BC137323;BC137324;BK004190;CH471121;CS248374;NM_001004473 AAI37324;AAI37325;BAC05867;CAJ56707;DAA04588;EAW52825;NP_001004473;Q8NGX5 Hs.690410 1781720;2108853 OR10K1__6134.2;SHGC-155253 OR1-6 OTTHUMP00000018923;olfactory receptor 10K1;olfactory receptor OR1-6 APPROVED protein-coding ENSG00000173285 HGNC:14693 14893 PROVISIONAL 1346412 OR10P1 olfactory receptor, family 10, subfamily P, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55683155 55684096 + 56030676 56031617 + 55636892 55637833 + 6480464;8554872 12213199;12477932;14983052;16541075;24152035 121130 Q8NGE3;Q8NH36 AB065867;ABBA01008383;AC009779;AF399489;AMYH02026546;BC136914;BK004259;CH471054;NM_206899 AAI36915;BAC06085;DAA04657;EAW96817;NP_996782;Q8NGE3 Hs.554551 OR10P1P;OR10P2P;OR10P3P;OR12-7;OST701 OTTHUMP00000242528;olfactory receptor 10P1;olfactory receptor 10P2;olfactory receptor 10P3;olfactory receptor OR12-7;olfactory receptor, family 10, subfamily P, member 1 pseudogene;olfactory receptor, family 10, subfamily P, member 2 pseudogene;olfactory receptor, family 10, subfamily P, member 3 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000175398 HGNC:15378 14895 PROVISIONAL 1605030 OR10V2P olfactory receptor, family 10, subfamily V, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56879028 56879791 + 59516285 59517054 + 59748812 59749581 + 10737800 81343 ABBA01021506;AMYH02024867;AP000640;NR_045005 Hs.741974 APPROVED pseudo ENSG00000255538 HGNC:15137 VALIDATED 1350461 OR10V1 olfactory receptor, family 10, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56843132 56844061 - 59480389 59481318 - 59712916 59713845 - 1580863;6480464 12213199;14983052 390201 Q8NGI7 AB065807;ABBA01021505;AF399593;AMYH02024867;AP000640;BK004323;CH471076;NM_001005324 AAK95078;BAC06026;DAA04721;EAW73852;NP_001005324;Q8NGI7 Hs.589001 OR11-256 OTTHUMP00000235888;olfactory receptor 10V1;olfactory receptor OR11-256 APPROVED protein-coding ENSG00000172289 HGNC:15136 17676 PROVISIONAL 1344207 OR10V3P olfactory receptor, family 10, subfamily V, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56871540 56872264 + 59508799 59509523 + 59741326 59742050 + 81342 ABBA01021506;AMYH02024867;AP000640;NG_004247 APPROVED pseudo HGNC:15138 INFERRED 1348477 OR10V7P olfactory receptor, family 10, subfamily V, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q21.1 22435529 22435828 - 42575081 42575380 - 42105878 42106177 - 403225 ABBA01018013;AL355839;AMYH02029073;NG_005817 APPROVED pseudo HGNC:31237 INFERRED 1349106 OR10R1P olfactory receptor, family 10, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131555619 131556759 + 158484575 158485715 + 158514785 158515925 + 14983052 79513 ABBA01016626;AL365440;AMYH02002003;BK004528;NG_002259 OR1-10 APPROVED pseudo HGNC:14813 INFERRED 1349715 OR10W1 olfactory receptor, family 10, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55392678 55394146 - 58034264 58035732 - 58266792 58268260 - 8554872 12477932;12975309;14983052 81341 Q8NGF6 AB065850;ABBA01021486;AMYH02024858;AP000435;AY358251;BC132848;BC132850;BK004490;CH471076;NM_207374 AAI32849;AAI32851;AAQ88618;ADR82922;BAC06068;DAA04888;EAW73802;NP_997257;Q8NGF6 Hs.531507 1707968;2218856 SHGC-84648;UNQ6469__5019 OR10W1P;OR10W1Q;OR11-236;UNQ6469 OTTHUMP00000235988;olfactory receptor 10W1;olfactory receptor OR11-236;olfactory receptor, family 10, subfamily W, member 1 pseudogene APPROVED protein-coding ENSG00000172772 HGNC:15139 18269 VALIDATED 1349895 OR10J7P olfactory receptor, family 10, subfamily J, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132391080 132392052 + 159320841 159321813 + 159351051 159352023 + 391119 ABBA01016619;AL513323;AMYH02002009;NG_004365 APPROVED pseudo HGNC:19637 INFERRED 1605031 OR10Y1P olfactory receptor, family 10, subfamily Y, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56858734 56859707 + 59495993 59496966 + 59728520 59729493 + 81340 ABBA01021505;AMYH02024867;AP000640;NG_004245 APPROVED pseudo HGNC:15140 INFERRED 1342523 OR10X1 olfactory receptor, family 10, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131619765 131620745 - 158548709 158549689 - 158578919 158579899 - 1580863;6480464;8554872 12213199;14983052;16710414 128367 Q8NGY0 AB065636;ABBA01016625;AF399455;AL160283;AMYH02002004;BK004194;BK004529;CH471121;NM_001004477 BAC05862;DAA04592;EAW52821;NP_001004477;Q8NGY0 Hs.553589 2219262 OR10X1__6141 OR1-13;OR1-14;OR10X1P OTTHUMP00000021114;olfactory receptor 10X1;olfactory receptor OR1-13 pseudogene;olfactory receptor OR1-14;olfactory receptor, family 10, subfamily X, member 1 pseudogene APPROVED protein-coding ENSG00000186400;ENSG00000279111 HGNC:14995 14897 PROVISIONAL 1350384 OR10Z1 olfactory receptor, family 10, subfamily Z, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131647280 131648221 + 158576229 158577170 + 158606439 158607380 + 1580863;8554872 14983052;16710414;20677014;23222517 128368 Q8NGY1 AB065635;ABBA01016625;AL353894;AMYH02002004;BK004195;CH471121;NM_001004478 BAC05861;DAA04593;EAW52820;NP_001004478;Q8NGY1 Hs.553590 2219264 OR10Z1__6142 OR1-15 OTTHUMP00000021117;olfactory receptor 10Z1;olfactory receptor OR1-15 APPROVED protein-coding ENSG00000198967 HGNC:14996 14898 PROVISIONAL 1350212 OR10T2 olfactory receptor, family 10, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131439356 131440300 - 158368312 158369256 - 158398522 158399466 - 1580863;6480464;8554872 14983052;16710414;20677014 128360 Q8NGX3 AB065643;ABBA01016628;AL121986;AMYH02002002;BK004364;CH471121;CS248080;NM_001004475 AAI56268;AAI57048;BAC05869;CAJ56567;DAA04762;EAW52827;NP_001004475;Q8NGX3 Hs.553588 OR1-3 OTTHUMP00000018924;olfactory receptor 10T2;olfactory receptor OR1-3 APPROVED protein-coding ENSG00000186306 HGNC:14816 14896 PROVISIONAL 1346770 OR11A1 olfactory receptor, family 11, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.31 30999324 31001552 - 29393281 29424848 - 29425504 29457071 - 1580863;6480464 12477932;12637542;14574404;14983052;19851445;20379614 26531 Q9GZK7 ABBA01038032;AC004174;AJ302614;AJ302615;AJ302616;AJ302617;AJ302618;AJ302619;AJ302620;AJ302621;AJ302622;AJ302623;AJ459854;AJ459857;AL035542;AL645927;AL662869;AMYH02013410;BC131608;BK004208;BX000531;BX004810;BX247947;BX248400;BX927133;CH471081;CR388393;CR759768;CR759956;CR848056;NG_034047;NM_013937;XM_005249001;XM_005249002;XM_005272788;XM_005272789;XM_005274843;XM_005274844;XM_005274934;XM_005274935;XM_005275089;XM_005275090;XM_005275230;XM_005275231;XM_005275365;XM_005275366;XM_005275524;XM_005275525 AAI31609;CAB44508;CAC20534;CAC20535;CAC20536;CAC20537;CAC20538;CAC20539;CAC20540;CAC20541;CAC20542;CAC20543;CAD31040;DAA04606;EAX03192;EAX03193;NP_039225;Q9GZK7;XP_005249058;XP_005249059;XP_005272845;XP_005272846;XP_005274900;XP_005274901;XP_005274991;XP_005274992;XP_005275146;XP_005275147;XP_005275287;XP_005275288;XP_005275422;XP_005275423;XP_005275581;XP_005275582 Hs.676010 2219266;5492989 OR11A1__6143;UniSTS:483556 6M1-18;OR11A2;dJ994E9.6;hs6M1-18 OTTHUMP00000029333;OTTHUMP00000108301;olfactory receptor 11A1;olfactory receptor 11A2;olfactory receptor OR6-30;olfactory receptor, family 11, subfamily A, member 2 APPROVED protein-coding ENSG00000204694 HGNC:8176 14899 VALIDATED 1343821 OR11G1P olfactory receptor, family 11, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 508955 509905 + 20647286 20648294 + 20179127 20180135 + 390438 ABBA01061221;AL163152;AMYH02028816;NG_004352 1788430 fc18g03.x1 APPROVED pseudo HGNC:15345 INFERRED 1354303 OR11G2 olfactory receptor, family 11, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 527059 528097 + 20665495 20666532 + 20197336 20198373 + 6480464;8554872 12213199;14983052 390439 Q8NGC1 AB065897;ABBA01061221;AF399610;AL356019;AMYH02028816;BK004453;NM_001005503 AAI48505;AAK95095;BAC06113;DAA04851;NP_001005503;Q8NGC1 Hs.554582 OR14-34 OTTHUMP00000236541;olfactory receptor 11G2;olfactory receptor OR14-34 APPROVED protein-coding ENSG00000196832 HGNC:15346 14900 PROVISIONAL 1343903 OR11H3P olfactory receptor, family 11, subfamily H, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 22297500 22298446 - 22009549 22010495 - 81113 ABBA01120841;AC134980;AMYH02030018;NG_004166 APPROVED pseudo HGNC:15367 INFERRED 1349951 OR11H2 olfactory receptor, family 11, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 q11.2 20181063 20182491 - 19712904 19714332 - 14983052 79334 Q8NH07 AB065607;AL139799;AL512310;AMYH02037969;BK004489;NM_001197287 BAC05834;DAA04887;NP_001184216;Q8NH07 Hs.554706 C14orf15;OR11H2P;OR11H8P olfactory receptor 11H2;olfactory receptor OR14-1;olfactory receptor, family 11, subfamily H, member 2 pseudogene;olfactory receptor, family 11, subfamily H, member 8 pseudogene;seven transmembrane helix receptor APPROVED protein-coding HGNC:14716 INFERRED 1352626 OR11H5P olfactory receptor, family 11, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 539017 539915 + 20677457 20678355 + 20209298 20210196 + 390440 ABBA01061221;AL356019;AMYH02028816;NG_004353 APPROVED pseudo HGNC:15348 INFERRED 1350638 OR10U1P olfactory receptor, family 10, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55239497 55240452 - 55587644 55588599 - 55193860 55194815 - 390318 ABBA01008382;AC090048;AMYH02026545;NG_004344 APPROVED pseudo HGNC:15332 INFERRED 1345740 OR11H4 olfactory receptor, family 11, subfamily H, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 572152 573126 + 20710951 20711925 + 20242792 20243766 + 1580863;6480464 12477932;14983052 390442 Q8NGC9 AB065887;ABBA01061222;AL356019;AMYH02028818;BC137054;BC137055;BK004455;CH471078;CS248290;NM_001004479 AAI37055;AAI37056;BAC06104;CAJ56668;DAA04853;EAW66484;NP_001004479;Q8NGC9 Hs.553767 2219268 OR11H4__5953 OR14-36 OTTHUMP00000244558;olfactory receptor 11H4;olfactory receptor OR14-36 APPROVED protein-coding ENSG00000176198 HGNC:15347 14902 PROVISIONAL 1346960 OR11H7 olfactory receptor, family 11, subfamily H, member 7 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 559075 560016 + 20697562 20698503 + 20229403 20230344 + 6480464 12213199;12508121;12730696;14983052;17973576 390441 Q8NGC8 ABBA01061222;AL356019;AMYH02028817;NG_004354 Q8NGC8 1749415 SHGC-111153 OR11H7P APPROVED pseudo HGNC:15350 INFERRED 1344961 OR11H6 olfactory receptor, family 11, subfamily H, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 553381 554373 + 20691869 20692861 + 20223710 20224702 + 1580863;6480464;8554872 14983052 122748 Q8NGC7 AB065889;ABBA01061222;AL356019;AMYH02028816;BK004454;CH471078;CS248288;NM_001004480 BAC06106;CAJ56667;DAA04852;EAW66485;NP_001004480;Q8NGC7 Hs.553575 2219270 OR11H6__5955 OTTHUMP00000244556;olfactory receptor 11H6;olfactory receptor OR14-35 APPROVED protein-coding ENSG00000176219 HGNC:15349 14903 PROVISIONAL 1347910 OR11J1P olfactory receptor, family 11, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 2247 3206 + 22268236 22269195 - 21542998 21543957 - 81111 ABBA01165342;AC020679;AC134980;AC183088;NG_004165 APPROVED pseudo HGNC:15369 INFERRED 1604779 OR11I1P olfactory receptor, family 11, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 109643724 109644717 + 111396721 111397714 + 110854099 110855092 + 6480464 12213199;12644552 81479 AB065444;ABBA01068394;AL354713;AMYH02001726;NG_003221 OR11I2P APPROVED pseudo HGNC:14997 INFERRED 1342728 OR11H8P olfactory receptor, family 11, subfamily H, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14 q11.2 20180895 20182275 - 326319 AB065607;AL512310;NG_002568 C14orf15 pseudo HGNC:19434 1346649 OR11H1 olfactory receptor, family 11, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 1141 2121 - 16448824 16449804 - 15528159 15529139 + 6480464 12213199;14983052 81061 Q8NG94 AB065933;ABBA01126678;AF399611;AP000534;BK004492;CS248078;NM_001005239 AAK95096;BAC06148;CAJ56566;DAA04890;NP_001005239;Q8NG94 Hs.554706 OR22-1 OTTHUMP00000028511;olfactory receptor 11H1;olfactory receptor OR22-1;seven transmembrane helix receptor APPROVED protein-coding ENSG00000130538 HGNC:15404 14901 PROVISIONAL 1604896 OR11H13P olfactory receptor, family 11, subfamily H, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 q11.2 19806435 19807415 - 19180291 19181271 + 14702039;14983052;15489334;16572171 440159 Q8IXE0 AB065941;AL589743;AMYH02028792;BK004794;NG_004865 BAC45263 ORNP-NP1 APPROVED pseudo HGNC:29997 INFERRED 1604898 OR11H12 olfactory receptor, family 11, subfamily H, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1141 2121 - 19377594 19378574 + 18601117 18602097 + 6480464;8554872 12477932 440153 B2RN74 AMYH02028780;BC136730;BC136731;CR383656;NM_001013354 AAI36731;AAI36732;B2RN74;NP_001013372 Hs.534880 OTTHUMP00000243455;olfactory receptor 11H12 APPROVED protein-coding ENSG00000257115 HGNC:30738 18633 PROVISIONAL 2974687 OR11J6P olfactory receptor, family 11, subfamily J, member 6 pseudogene 15 15 15 q11.2 2282 3178 + 22185837 22186733 - 21980313 21981209 - 100288148 AC183089;NG_022100 pseudo HGNC:38588 INFERRED 1344426 OR11J5P olfactory receptor, family 11, subfamily J, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 2246 3205 + 21174579 21175538 - 20969250 20970209 - 403226 AC037471;AMYH02029996;NG_004403 APPROVED pseudo HGNC:31238 INFERRED 2974688 OR11J7P olfactory receptor, family 11, subfamily J, member 7 pseudogene 15 15 q11.2 22177243 22178149 + 21971719 21972625 + 100288112 AC183089;AMYH02030014;NG_022120 1726281 G62441 pseudo HGNC:38589 INFERRED 1345215 OR11K2P olfactory receptor, family 11, subfamily K, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 66966 67913 - 20201504 20202451 - 19733345 19734292 - 401742 ABBA01061213;AL512310;AMYH02028810;NG_004392 APPROVED pseudo HGNC:19635 INFERRED 1343705 OR11K1P olfactory receptor, family 11, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 22318853 22319781 - 22030902 22031830 - 81109 Q8NGB5 AB065906;ABBA01150127;AC134980;AMYH02030018;AX646649;NG_004163 BAC06121;CAD69451 hypothetical protein LOC100288919;uncharacterized protein LOC100288919 APPROVED pseudo HGNC:15371 INFERRED 1606176 OR11M1P olfactory receptor, family 11, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47817631 47818603 + 49021624 49022596 + 48627841 48628813 + 121270 ABBA01031482;AC079951;AMYH02026423;NG_004284 APPROVED pseudo HGNC:15333 INFERRED 1349424 OR11N1P olfactory receptor, family 11, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 130844743 130845722 - 130458308 130459287 - 131324334 131325313 - 392540 ABBA01042122;AL590806;AMYH02040494;NG_004381 APPROVED pseudo HGNC:19582 INFERRED 1354423 OR12D1 olfactory receptor, family 12, subfamily D, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30990987 30992118 + 29384942 29386073 + 29417165 29418296 + 6480464 26530 AB065471;ABBA01038032;AL035542;AL645927;AL662869;AMYH02013410;BX004810;BX248400;BX927133;CR388393;CR759768;NG_002196 BAC05728 OR12D1P;hs6M1-19 APPROVED pseudo HGNC:8177 INFERRED 1353527 OR11Q1P olfactory receptor, family 11, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.1 130724504 130725452 + 130338070 130339018 + 131204096 131205044 + 403227 ABBA01042113;AL603758;AMYH02040494;NG_004404 APPROVED pseudo HGNC:31239 INFERRED 1351492 OR11P1P olfactory receptor, family 11, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11 513651 514024 - 20652084 20652457 - 20183925 20184298 - 282795 ABBA01061221;AL163152;AMYH02028816;NG_004302 APPROVED pseudo HGNC:19636 INFERRED 1342706 OR11L1 olfactory receptor, family 11, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221296358 221297326 - 248004230 248005198 - 247840928 247841896 - 1580863;6480464;8554872 12477932;14983052;19056867 391189 Q6IF01;Q8NGX0 AB065646;ABBA01031793;AC099571;AMYH02003140;BC140753;BK004461;CH471148;NM_001001959 AAI40754;BAC05872;DAA04859;EAW77204;NP_001001959;Q8NGX0 Hs.553781 OTTHUMP00000038047;olfactory receptor 11L1;olfactory receptor OR1-50 APPROVED protein-coding ENSG00000197591 HGNC:14998 17677 PROVISIONAL 1352207 OR12D3 olfactory receptor, family 12, subfamily D, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30947396 30949264 - 29341200 29343068 - 29373423 29375291 - 1580863;6480464 12477932;12637542;14574404;14983052;15489334;19851445;20205591;20466734;23393555;24047820 81797 D2XT27;Q9UGF7 ABBA01038032;AJ459858;AL096770;AL662781;AL732432;AMYH02013407;BC069082;BC069154;BC103892;BC106898;BK004439;BX005133;BX927232;CH471081;CR388393;CR759808;CS248370;NM_030959 AAH69082;AAH69154;AAI03893;CAB65796;CAD31041;CAJ56705;DAA04837;EAX03190;NP_112221;Q9UGF7 Hs.272280 5493061;5493951 UniSTS:480499;UniSTS:484052 MGC119267;MGC125888;hs6M1-27 OTTHUMP00000029057;olfactory receptor 12D3;olfactory receptor OR6-27 APPROVED protein-coding ENSG00000112462 HGNC:13963 17679 PROVISIONAL 1354005 OR13C3 olfactory receptor, family 13, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77803672 77804715 - 107298051 107299094 - 104535770 104536813 - 8554872 12477932;12906860;14983052;15164053 138803 Q8NGS6 AB065713;ABBA01042834;AL450426;AMYH02021379;BC136949;BC136952;BK004410;CH471105;NM_001001961 AAI36950;AAI36953;BAC05934;DAA04808;EAW58982;NP_001001961;Q8NGS6 Hs.553600 2219274 OR13C3__5957 OR37G;OR9-8 OTTHUMP00000021823;olfactory receptor 13C3;olfactory receptor OR9-8 APPROVED protein-coding ENSG00000204246 HGNC:14704 14906 PROVISIONAL 1345485 OR13C2 olfactory receptor, family 13, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77872572 77873528 - 107366952 107367908 - 104604671 104605627 - 1580863;6480464;8554872 12477932;12906860;14983052;15164053 392376 Q8NGS9 AB065709;ABBA01042834;AL359846;AMYH02021379;BC136824;BC136826;BK004408;CH471105;CS248386;NM_001004481 AAI36825;AAI36827;BAC05931;CAJ56713;DAA04806;EAW58987;NP_001004481;Q8NGS9 Hs.553789 2219272 OR13C2__5956 OR37K OTTHUMP00000021831;olfactory receptor 13C2;olfactory receptor OR9-12 APPROVED protein-coding ENSG00000276119 HGNC:14701 14905 PROVISIONAL 1344868 OR13C4 olfactory receptor, family 13, subfamily C, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77794154 77795110 - 107288534 107289490 - 104526253 104527209 - 1580863;6480464;8554872 12213199;12906860;1370859;14983052;15164053 138804 Q8NGS5 AB065714;ABBA01042834;AF399602;AL450426;AMYH02021379;BK004411;CH471105;CS248516;NM_001001919;X64991 AAI48383;AAI53008;AAK95087;BAC05935;CAJ56775;DAA04809;EAW58981;NP_001001919;Q8NGS5 Hs.553601 2219274;2219276 OR13C3__5957;OR13C4__5958 HSHTPCRX17;HTPCRX17;OR2K1;OR37F;OR9-7 OTTHUMP00000021824;olfactory receptor 13C4;olfactory receptor OR9-7;olfactory receptor, family 2, subfamily K, member 1 APPROVED protein-coding ENSG00000148136 HGNC:14722 11411 PROVISIONAL 1347240 OR13C5 olfactory receptor, family 13, subfamily C, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77866354 77867310 - 107360738 107361694 - 104598457 104599413 - 1580863;6480464;8554872 12477932;12906860;14983052;15164053 138799 Q8NGS8 AB065710;ABBA01042834;AL450426;AMYH02021379;BC136842;BC136843;BK004409;CH471105;CS248390;NM_001004482 AAI36843;AAI36844;BAC05932;CAJ56715;DAA04807;EAW58986;NP_001004482;Q8NGS8 Hs.553598 OR9-11 OTTHUMP00000021825;olfactory receptor 13C5;olfactory receptor OR9-11 APPROVED protein-coding ENSG00000277556 HGNC:15100 14907 PROVISIONAL 1351391 OR13C6P olfactory receptor, family 13, subfamily C, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35924887 35925833 - 35991336 35992282 - 35991339 35992285 - 12906860 392311 Q8NH95 ABBA01050437;AL138834;AMYH02019469;NG_004378 Q8NH95 OR37B APPROVED pseudo HGNC:15101 INFERRED 1351941 OR13C7 olfactory receptor, family 13, subfamily C, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35936461 35937416 - 36002909 36003864 - 36002912 36003867 - 6480464 12906860 81377 ABBA01050437;AL138834;AMYH02019470;NG_002408 OR13C7;OR37C;OST706 APPROVED pseudo HGNC:15102 INFERRED 1343666 OR13C8 olfactory receptor, family 13, subfamily C, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77837068 77838030 + 107331449 107332411 + 104569168 104570130 + 1580863;6480464;8554872 12213199;12906860;14983052;15164053 138802 Q8NGS7 AB065711;ABBA01042834;AF399599;AL450426;AMYH02021379;BK004607;CH471105;CS248392;NM_001004483 AAI40248;AAI41626;AAK95084;BAC05933;CAJ56716;EAW58983;NP_001004483;Q8NGS7 Hs.553599 2107455 OR13C8__7105 OR37H;OR9-10 OTTHUMP00000021826;olfactory receptor 13C8;olfactory receptor OR9-10 pseudogene APPROVED protein-coding ENSG00000186943 HGNC:15103 14908 PROVISIONAL 1345064 OR12D2 olfactory receptor, family 12, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.31 30970469 30971501 + 29364416 29365448 + 29396639 29397671 + 1580863;6480464 11282967;12477932;12637542;14574404;14983052;15489334;19833159;19851445;21946350 26529 P58182 ABBA01038032;AC004171;AJ459861;AL035542;AL645927;AL662869;AMYH02013409;BC069123;BC101742;BC101746;BK004523;BX005133;BX927232;CH471081;CR388393;CR759808;NM_013936 AAH69123;AAI01743;AAI01747;CAB44510;DAA04921;EAX03191;NP_039224;P58182 Hs.247862 5492481;5493277 UniSTS:481228;UniSTS:485585 DJ994E9.8;HS6M1-20;MGC126791;MGC126795 OTTHUMP00000029055;olfactory receptor 12D2;olfactory receptor OR6-28 APPROVED protein-coding ENSG00000168787;ENSG00000280236 HGNC:8178 17678 REVIEWED 1353189 OR13C9 olfactory receptor, family 13, subfamily C, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77885142 77886098 - 107379529 107380485 - 104617248 104618204 - 1580863;8554872 12906860;14983052 286362 Q8NGT0;Q8NGV4 AB065672;AB065708;ABBA01042834;AL359846;AMYH02021379;BK004250;CH471105;CS248224;NM_001001956 AAI41487;AAI48771;BAC05897;BAC05930;CAJ56637;DAA04648;EAW58988;NP_001001956;Q8NGT0 Hs.553682 2106555 OR13C9__5961 OR37L;OR9-13 OTTHUMP00000021832;olfactory receptor 13C9;olfactory receptor OR9-13 APPROVED protein-coding ENSG00000136839 HGNC:15104 14909 PROVISIONAL 1353917 OR13D2P olfactory receptor, family 13, subfamily D, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77857915 77858848 + 107352299 107353232 + 104590018 104590951 + 392375 ABBA01042834;AL450426;AMYH02021379;NG_004380 2190497 CFOR10D04 APPROVED pseudo HGNC:15105 INFERRED 1345206 OR13C1P olfactory receptor, family 13, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77924343 77925296 - 107419044 107419997 - 104656763 104657716 - 12213199;12906860 392377 ABBA01042834;AF399464;AL359846;AMYH02021381;NG_002246 OR37M APPROVED pseudo HGNC:14699 INFERRED 1350154 OR13D1 olfactory receptor, family 13, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77962003 77963043 + 107456703 107457743 + 104694422 104695462 + 6480464;8554872 12477932;14983052 286365 Q8NGV5 AB065671;ABBA01042832;AL359846;AMYH02021382;BC140916;BK004251;CH471105;NM_001004484 AAI40917;BAC05896;DAA04649;EAW58989;NP_001004484;Q8NGV5 Hs.553683 2219278 OR13D1__5962 OR9-15 OTTHUMP00000021827;olfactory receptor 13D1;olfactory receptor OR9-15 APPROVED protein-coding ENSG00000179055 HGNC:14695 14910 PROVISIONAL 1351506 OR13D3P olfactory receptor, family 13, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77989925 77990858 + 107484617 107485550 + 104722336 104723269 + 402374 ABBA01042831;AL359846;AMYH02021383;NG_004400 APPROVED pseudo HGNC:15106 INFERRED 1345751 OR13E1P olfactory receptor, family 13, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35792557 35793512 - 35859022 35859977 - 35859025 35859980 - 392308 ABBA01064982;AL133410;AMYH02019466;NG_004377 OR13E2;OST741 APPROVED pseudo HGNC:15107 INFERRED 1603609 OR13A1 olfactory receptor, family 13, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41801331 41814286 - 45798102 45811056 - 45302654 45315608 - 6480464 12477932;14983052;15164054 79290 Q8NGR1 AB065728;ABBA01050025;AC011879;AK131555;AL512324;AMYH02022734;BC104853;BC104855;BC143622;BK004287;CH471160;CS248138;NM_001004297 AAI04854;AAI04856;AAI43623;BAC05949;BAD18689;CAJ56596;DAA04685;EAW86641;NP_001004297;Q8NGR1 Hs.532435 FLJ16797 OTTHUMP00000019501;OTTHUMP00000217078;olfactory receptor 13A1;olfactory receptor OR10-3;seven transmembrane helix receptor APPROVED protein-coding ENSG00000256574 HGNC:14772 14904 VALIDATED 1342816 OR13F1 olfactory receptor, family 13, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77772162 77773121 + 107266544 107267503 + 104504263 104505222 + 1580863;6480464;8554872 12477932;14983052;15164053 138805 Q8NGS4 AB065715;ABBA01042834;AL450426;AMYH02021379;BC140739;BK004412;CH471105;CS248394;NM_001004485 AAI40740;BAC05936;CAJ56717;DAA04810;EAW58980;NP_001004485;Q8NGS4 Hs.553602 2219280 OR13F1__5963 OR9-6 OTTHUMP00000021822;olfactory receptor 13F1;olfactory receptor OR9-6 APPROVED protein-coding ENSG00000186881 HGNC:14723 14911 PROVISIONAL 1346011 OR13I1P olfactory receptor, family 13, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77897649 77898913 + 107392036 107393300 + 104629755 104631019 + 79538 ABBA01042834;AL359846;AMYH02021380;NG_004626 OR13I2P APPROVED pseudo HGNC:14732 INFERRED 1349302 OR13G1 olfactory receptor, family 13, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221134225 221135148 - 247835420 247836343 - 247672118 247673041 - 1580863;6480464;8554872 12477932;14983052;16175505;16710414;17975119;18599554;19023099;19056482;19166692;19709766 441933 Q8NGZ3 AB065623;ABBA01031788;AC026038;AL390860;AMYH02003136;BC136736;BC136738;BK004376;CH471148;NM_001005487 AAI36737;AAI36739;BAC05849;DAA04774;EAW77198;NP_001005487;Q8NGZ3 Hs.553834 OR1-37 OTTHUMP00000038061;olfactory receptor 13G1;olfactory receptor OR1-37 APPROVED protein-coding ENSG00000197437 HGNC:14999 17680 611677 PROVISIONAL 1354025 OR13K1P olfactory receptor, family 13, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 131083149 131084232 + 130696704 130697787 + 131562730 131563813 + 402424 ABBA01042139;AL355366;AMYH02040495;NG_004632 1652976;1691552;1691566;1701908;1847926 AF020145;AL032546;AL032611;DXS7839;DXS9761 APPROVED pseudo HGNC:14721 INFERRED 1347486 OR13J1 olfactory receptor, family 13, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35803004 35803942 - 35869460 35870398 - 35869463 35870401 - 1580863;6480464;8554872 12213199;12477932;14983052;15164053 392309 Q8NGT2 AB065705;ABBA01064982;AF399603;AL133410;AMYH02019466;AY726589;BC136715;BC136716;BK004442;CH471071;CS248084;NM_001004487 AAI36716;AAI36717;AAK95088;BAC05928;CAJ56569;DAA04840;EAW58323;NP_001004487;Q8NGT2 Hs.527480 OR9-2 OTTHUMP00000021360;olfactory receptor 13J1;olfactory receptor OR9-2 APPROVED protein-coding HGNC:15108 14912 PROVISIONAL 1353038 OR13Z1P olfactory receptor, family 13, subfamily Z, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q21.1 122092387 122093279 - 146890733 146891625 + 147419006 147419898 + 403228 ABBA01004400;AC242425;AL590667;NG_004405 1696654 SHGC-82962 APPROVED pseudo HGNC:31240 INFERRED 1344200 OR13H1 olfactory receptor, family 13, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 131064480 131065406 + 130678048 130678974 + 131544074 131545000 + 1580863;6480464 12213199;12477932;12908129;1370859;14983052;15772651;1840504;9268701 347468 Q8NG92 AB065938;ABBA01042136;ABBA01042137;AF399633;AL049734;AMYH02040495;AY284421;BC137050;BK004524;CH471107;NM_001004486 AAI37051;AAK95118;BAC06153;DAA04922;EAX11790;NP_001004486;Q8NG92 Hs.553711;Hs.714693 2219282 OR13H1__5964 ORX1 OTTHUMP00000024032;olfactory receptor 13H1;olfactory receptor ORX-1;olfactory receptor ORX1 APPROVED protein-coding ENSG00000171054 HGNC:14755 18600 PROVISIONAL 1351866 OR13Z2P olfactory receptor, family 13, subfamily Z, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 q21.1 122066145 122066700 - 146917312 146917867 + 403229 AC242628;AL590667;NG_004406 APPROVED pseudo HGNC:31241 INFERRED 1605617 OR11J2P olfactory receptor, family 11, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 21165991 21166936 + 20960662 20961607 + 81110 AC037471;AMYH02029996;NG_004164 1726281 G62441 APPROVED pseudo HGNC:15370 INFERRED 1352260 OR13Z3P olfactory receptor, family 13, subfamily Z, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q21.1 122029630 122030020 - 146953988 146954378 + 147482238 147482628 + 403230 ABBA01004400;AC242628;AL590667;NG_005818 APPROVED pseudo HGNC:31242 INFERRED 1352394 OR14A16 olfactory receptor, family 14, subfamily A, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221270682 221271611 - 247978102 247979031 - 247814800 247845181 - 6480464;8554872 14983052 284532 Q8NHC5 AB065441;ABBA01031791;AC099571;AMYH02003140;BK004366;CH471148;CS248188;NM_001001966;XM_006711763;XM_006711764;XM_006711765 AAI40461;AAI48710;BAC05708;CAJ56620;DAA04764;EAW77203;NP_001001966;Q8NHC5;XP_006711826;XP_006711827;XP_006711828 Hs.626620 OR5AT1 OTTHUMP00000038052;olfactory receptor 14A16;olfactory receptor 5AT1;olfactory receptor OR1-45;olfactory receptor, family 5, subfamily AT, member 1 APPROVED protein-coding ENSG00000196772 HGNC:15022 15033 PROVISIONAL 1342601 OR14A2 olfactory receptor, family 14, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221178955 221180299 - 247886201 247887545 - 247722899 247724243 - 6480464 12213199 388761 Q96R54 AB065620;ABBA01031790;AC026038;AC118470;AF399589;AMYH02003140;NG_002409 Q96R54 OR5AX1;OR5AX1P APPROVED pseudo HGNC:15024 INFERRED 1353060 OR14C36 olfactory receptor, family 14, subfamily C, member 36 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221796592 221797530 + 248512077 248513015 + 248348775 248349713 + 1580863;6480464;8554872 14983052;16710414 127066 Q8NHC7 AB065439;ABBA01031799;AL450303;AMYH02003148;BK004466;CH471148;CS248414;NM_001001918 BAC05706;CAJ56727;DAA04864;EAW77223;NP_001001918;Q8NHC7 Hs.553583 1655126 G19135 OR5BF1 OTTHUMP00000038280;olfactory receptor 14C36;olfactory receptor 5BF1;olfactory receptor OR1-59;olfactory receptor, family 5, subfamily BF, member 1 APPROVED protein-coding ENSG00000177174 HGNC:15026 17754 PROVISIONAL 1349157 OR14I1 olfactory receptor, family 14, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 222141262 222142197 - 248844580 248862258 - 248681279 248698884 - 6480464 12477932;19322201 401994 A6ND48 ABBA01023059;AC098483;AL672295;AMYH02003154;BC137188;BC137189;CH471257;NM_001004734;XM_005273131;XM_005273132 A6ND48;AAI37189;AAI37190;EAW57530;NP_001004734;XP_005273188;XP_005273189 Hs.449973 1848038;2219360 AL009992;OR5BU1__5908 OR5BU1;OR5BU1P OTTHUMP00000038175;olfactory receptor 14I1;olfactory receptor 5BU1;olfactory receptor, family 5, subfamily BU, member 1 pseudogene APPROVED protein-coding ENSG00000189181 HGNC:19575 17755 PROVISIONAL 1344262 OR14J1 olfactory receptor, family 14, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30880644 30881609 + 29274467 29275432 + 29306690 29307655 + 1580863;6480464 12477932;14574404;14983052;19851445 442191 Q9UGF5 ABBA01038032;AL096770;AL662781;AL662857;AMYH02013407;BC136905;BK004441;BX005432;BX927232;CH471081;CR753509;CR759808;CR936918;NM_030946 AAI36906;CAB65799;DAA04839;EAX03186;NP_112208;Q9UGF5 Hs.632004 OR5U1;OR6-25;bA150A6.4;hs6M1-28 OTTHUMP00000029265;olfactory receptor 14J1;olfactory receptor 5U1;olfactory receptor OR6-25;olfactory receptor, family 5, subfamily U member 1;olfactory receptor, family 5, subfamily U, member 1 APPROVED protein-coding ENSG00000204695 HGNC:13971 15053 PROVISIONAL 1348185 OR14L1P olfactory receptor, family 14, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221081781 221082659 + 247782983 247783861 + 247619681 247620559 + 14983052;16710414 127617 Q6IEZ2;Q8NHC6 AB065440;ABBA01031788;AL606804;AMYH02003136;BK004470;BK004700;NG_004286 BAC05707;DAA04868;Q8NHC6 OR1-35;OR1-36;OR5AV1;OR5AV1P;RP11-978I15.6 APPROVED pseudo HGNC:15023 INFERRED 1345029 OR14K1 olfactory receptor, family 14, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221194442 221195386 + 247901917 247902861 + 247738615 247739559 + 1580863;6480464 11337468;12213199;14983052;16939646 343170 Q8NGZ2 AB065624;ABBA01031791;AC118470;AF399590;AMYH02003140;BK004377;CH471148;CS248218;NG_007559 AAK95075;BAC05850;CAJ56634;DAA04775;EAW77201 1710794;2110621 OR5AY1__5904;SHGC-84075 OR1-39;OR1.5.9;OR5AY1 APPROVED pseudo HGNC:15025 17752 INFERRED 1348312 OR1A2 olfactory receptor, family 1, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3118886 3119815 + 3100813 3101742 + 3197519 3198448 + 1580863;6480464;8554872 10673334;12213199;12477932;14983052;15489334;17601748;23903073 26189 Q9Y585 ABBA01054733;AC090282;AF155225;AF399556;AMYH02032795;BC069092;BC106733;BC106734;BK004242;CH471108;NM_012352 AAD39545;AAH69092;AAI06734;AAI06735;AAK95041;DAA04640;EAW90521;NP_036484;Q9Y585 Hs.532660 5492377 UniSTS:480888 MGC119930;MGC119931;OR17-6 OTTHUMP00000115798;olfactory receptor 17-6;olfactory receptor 1A2;olfactory receptor OR17-10 APPROVED protein-coding ENSG00000172150 HGNC:8180 17682 PROVISIONAL 1351186 OR1A1 olfactory receptor, family 1, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3136984 3137913 + 3118915 3119844 + 3215621 3216550 + 1580863;6480464;8554872 10673334;12213199;12477932;14983052;17601748 8383 Q9P1Q5 ABBA01054733;AC090282;AF087918;AF399555;AMYH02032795;BC069169;BC128248;BC141934;BC141935;BK004241;CH471108;NM_014565 AAF37311;AAH69169;AAI28249;AAI41935;AAI41936;AAK95040;DAA04639;EAW90520;NP_055380;Q9P1Q5 Hs.532688 2219284;5494029 OR1A1__5966;UniSTS:480759 OR17-7 OTTHUMP00000115797;olfactory receptor 17-7;olfactory receptor 1A1;olfactory receptor OR17-11 APPROVED protein-coding ENSG00000172146 HGNC:8179 17681 VALIDATED 1344765 OR1AB1P olfactory receptor, family 1, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 16062215 16062953 + 16162788 16163526 + 16051978 16052716 + 81090 ABBA01051127;AC008894;AMYH02035666;NG_004627 2146885;2171244 D13S1673;G26528 APPROVED pseudo HGNC:15390 INFERRED 1350079 OR1AC1P olfactory receptor, family 1, subfamily AC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3294496 3294742 - 3280761 3281007 - 3377467 3377713 - 403231 ABBA01054737;AC087498;AMYH02032798;NG_005819 APPROVED pseudo HGNC:31243 INFERRED 1342799 OR1B1 olfactory receptor, family 1, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96039176 96040132 - 125390858 125391814 - 122628579 122629535 - 1580863;6480464 14983052;15164053;18328065 347169 Q8NGR6 AB065723;ABBA01043717;AL162254;AMYH02021591;BK004229;CH471090;NM_001004450 BAC05944;DAA04627;EAW87539;NP_001004450;Q8NGR6 Hs.553710 OR9-26;OR9-B OTTHUMP00000022061;olfactory receptor 1B1;olfactory receptor 9-B;olfactory receptor OR9-26 APPROVED protein-coding ENSG00000171484;ENSG00000280094 HGNC:8181 14913 PROVISIONAL 1350511 OR1C1 olfactory receptor, family 1, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221213287 221214231 - 247920764 247921708 - 247757462 247758406 - 633349;1580863;6480464;8554872 9119360 12213199;12477932;14983052;16710414;16939646 26188 Q15619 AB065625;ABBA01031791;AF399560;AL450999;AMYH02003140;BC140914;BK004365;CH471148;CS248186;NM_012353;X89674 AAI40915;AAK95045;BAC05851;CAA61821;CAJ56619;DAA04763;EAW77202;NP_036485;Q15619 Hs.381306 HSTPCR27;OR1-42;OR1.5.10;ORL211;TPCR27 OTTHUMP00000038051;olfactory receptor 1C1;olfactory receptor OR1-42;olfactory receptor TPCR27 APPROVED protein-coding ENSG00000221888 HGNC:8182 14914 VALIDATED 1353920 OR1D2 olfactory receptor, family 1, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3013570 3014508 - 2995352 2996290 - 3092058 3092996 - 68281;1580863;6480464 1840504 10673334;12213199;12477932;12663925;1315913;1370859;14983052;15489334;16820410;21454689;23472165;8004088;8097991;8665947 4991 P34982 ABBA01054733;AC097370;AF087917;AF399535;AMYH02032792;BC069552;BC106735;BC106736;BK004244;CH471108;NM_002548;U04678;U53583;X65857 AAA18343;AAC99554;AAF37310;AAH69552;AAI06736;AAI06737;AAK95020;CAA46687;DAA04642;EAW90524;NP_002539;P34982 Hs.532771 5492483 UniSTS:481219 MGC119942;MGC119943;OLFR1;OR17-4 OTTHUMP00000115755;olfactory receptor 17-4;olfactory receptor 1D2;olfactory receptor OR17-6;olfactory receptor-like protein HGMP07E APPROVED protein-coding ENSG00000184166 HGNC:8183 01255 164342 VALIDATED 1346947 OR1D4 olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2010] 17 17 17 p13.3 2984518 2985107 - 3143970 3144559 + 3240676 3241265 + 1580863 10673334;12213199;12477932;14983052;8004088 653166 P47884;Q6IFM2 ABBA01054735;AC090282;AF087922;AF399534;AMYH02032795;BC118668;BC122528;BK004240;NR_033795;U04681 AAA18345;AAF37312;AAI72308;AAK95019;DAA04638;P47884 Hs.653087 2109603;5493103 OR1D5__5969;UniSTS:484278 MGC125396;MGC199013;OR17-30 olfactory receptor 17-30;olfactory receptor 1D4;olfactory receptor OR17-1 APPROVED pseudo ENSG00000255095 HGNC:8185 VALIDATED 1344146 OR1D3P olfactory receptor, family 1, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3182832 3183474 + 3169106 3169748 + 3265812 3266454 + 10673334;12213199;8004088;9787077 8384 AB065571;AB065606;ABBA01054735;AC090282;AF065866;AF065868;AF087919;AF399371;AMYH02032795;NG_002298;U04679;U04685 OR11-13;OR11-22;OR17-23;OR1D6P;OR1D7P APPROVED pseudo HGNC:8184 INFERRED 1351262 OR1AA1P olfactory receptor, family 1, subfamily AA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 130944711 130945651 + 130558276 130559216 + 131424302 131425242 + 79312 ABBA01042129;AL049734;AMYH02040494;NG_002238 APPROVED pseudo HGNC:14750 INFERRED 1344373 OR1D5 olfactory receptor, family 1, subfamily D, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 2984169 2985107 - 2965963 2966901 - 3062669 3063607 - 1580863;6480464;8554872 10673334;12213199;12477932;1315913;14983052 8386 A0AUK4;P58170 ABBA01054732;AC097370;AF087923;AF399533;AMYH02032792;BC106876;BK004245;CS248334;NM_014566;U53930 AAD10841;AAF37313;AAI06877;AAI52940;AAK95018;CAJ56690;DAA04643;NP_055381;P58170 Hs.553508 2109603;5492587;5493103 OR1D5__5969;UniSTS:481731;UniSTS:484278 C17orf2;OR17-2;OR17-30;OR17-31 olfactory receptor 17-31;olfactory receptor 1D5;olfactory receptor OR17-2 APPROVED protein-coding ENSG00000262628 HGNC:8186 17684 VALIDATED 1351004 OR1E3 olfactory receptor, family 1, subfamily E, member 3 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3037943 3038890 + 3019721 3020668 + 3116427 3117374 + 1580863;6480464 10673334;12379593;8004088 8389 Q8WZA6;Q9UM77 ABBA01054733;AC097370;AF087929;AMYH02032792;NG_002151;U04690;U53583 AAC99555;Q8WZA6 OR17-210;OR1E3P APPROVED pseudo HGNC:8191 INFERRED 1347026 OR1E2 olfactory receptor, family 1, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3349902 3350873 - 3336164 3337135 - 3432870 3433841 - 1580863;6480464 10673334;12213199;12477932;14983052;15489334;22145905;8004088;804088;9500546 8388 P47887;Q6IFM7 ABBA01054737;AC025125;AF087925;AF095725;AF399551;AMYH02032798;BC121105;BC121106;BK004235;BK004352;CH471108;CS248560;NM_003554;U04686;U76377;U86241;U86242 AAA18349;AAC39621;AAC39622;AAD00249;AAF03260;AAF37315;AAI21106;AAI21107;AAK95036;CAJ56797;DAA04633;DAA04750;EAW90513;NP_003545;P47887 Hs.533931 OR17-135;OR17-93;OR1E4;OR1E7;OST529 OR17-136;OTTHUMP00000115810;olfactory receptor 17-93/17-135/17-136;olfactory receptor 1E2;olfactory receptor 1E4;olfactory receptor OR17-17;olfactory receptor OR17-3;olfactory receptor, family 1, subfamily E, member 4;olfactory receptor, family 1, subfamily E, member 7 APPROVED protein-coding ENSG00000127780 HGNC:8190 17686 PROVISIONAL 1348262 OR1F1 olfactory receptor, family 1, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3459913 3460851 + 3254247 3255185 + 3204247 3205185 + 1580863;6480464;8554872 12213199;12477932;14983052;15489334;9288094;9500546;9653642 4992 O43749;O43875 AB065907;ABBA01026732;AF399559;AJ003147;AMYH02031284;BC069335;BK004247;CH471112;NM_012360;U86234;U86235;U86236;U86237;U86238;U86239;U86264;Y14442 AAC39614;AAC39615;AAC39616;AAC39617;AAC39618;AAC39619;AAC39627;AAH69335;AAK95044;BAC06122;CAA05903;CAA74794;DAA04645;EAW85391;NP_036492;O43749 Hs.664502 1661723;2107459;2165598;5493935 D16S2617;D16S2618;OR1F1__7108;UniSTS:480441 OLFMF;OR16-36;OR16-37;OR16-88;OR16-89;OR16-90;OR1F10;OR1F13P;OR1F4;OR1F5;OR1F6;OR1F7;OR1F8;OR1F9;OR3-145;ORL1023 OTTHUMP00000115580;olfactory receptor 1F1;olfactory receptor, family 1, subfamily F, member 10;olfactory receptor, family 1, subfamily F, member 13 pseudogene;olfactory receptor, family 1, subfamily F, member 4;olfactory receptor, family 1, subfamily F, member 5;olfactory receptor, family 1, subfamily F, member 6;olfactory receptor, family 1, subfamily F, member 7;olfactory receptor, family 1, subfamily F, member 9 APPROVED protein-coding ENSG00000168124 HGNC:8194 09125 603232 PROVISIONAL 1606624 OR1F12 olfactory receptor, family 1, subfamily F, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 29646955 29648368 + 28041026 28042002 + 28073248 28074224 + 6480464 14983052 442179 Q6IFI9;Q8NHA8 AB065468;ABBA01038015;AL121944;AMYH02013391;BK004273;NG_004691 BAC05727;DAA04671;Q8NHA8 OR1F12P;OR1F12Q;OR6-12;hs6M1-35P APPROVED pseudo HGNC:13964 INFERRED 1353348 OR1F2P olfactory receptor, family 1, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3471235 3472219 + 3265562 3266546 + 3215562 3216546 + 1580863;6480464 12213199;1370859;14983052;9653642 26184 Q96R84 ABBA01026734;AF091512;AF399558;AJ003145;AJ003147;AMYH02031286;BK004665;NR_002169;X64987 Q96R84 Hs.651203 5493531 UniSTS:487062 OLFMF2;OR16-3;OR1F11;OR1F2;OR1F3P;hg91 APPROVED pseudo ENSG00000203581 HGNC:8196 PROVISIONAL 1349478 OR1H1P olfactory receptor, family 1, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96018468 96019401 + 125370144 125371077 + 122607865 122608798 + 26742 ABBA01043717;AL162254;AMYH02021591;NG_004138 1711190 SHGC-85342 OR1H1;OST26 APPROVED pseudo HGNC:8206 INFERRED 1350140 OR1I1 olfactory receptor, family 1, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 15093586 15094653 + 15197877 15198944 + 15087066 15088133 + 6480464 12213199;12477932;15057824 126370 O60431 ABBA01051095;AC004794;AF399548;AMYH02035640;BC140930;CH471106;NM_001004713 AAC18915;AAI40931;AAK95033;EAW84460;NP_001004713;O60431 Hs.631610 OR19-20;OR1I1P;OR1I1Q olfactory receptor 19-20;olfactory receptor 1I1 APPROVED protein-coding ENSG00000094661 HGNC:8207 14915 PROVISIONAL 1346374 OR1J1 olfactory receptor, family 1, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95887554 95888522 - 125239237 125240205 - 122476958 122477926 - 1580863;6480464;8554872 12213199;12477932;14983052;15164053 347168 Q8NGS3 AB065716;ABBA01043714;AF399554;AL359636;AMYH02021589;BC136933;BC136938;BK004452;CH471090;NM_001004451 AAI36934;AAI36939;AAK95039;BAC05937;DAA04850;EAW87532;NP_001004451;Q8NGS3 Hs.632692 OR9-18;hg32 OTTHUMP00000022050;olfactory receptor 1J1;olfactory receptor OR9-18 APPROVED protein-coding ENSG00000136834 HGNC:8208 14916 PROVISIONAL 1352426 OR1L1 olfactory receptor, family 1, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96072313 96073245 + 125423995 125424927 + 122661716 122662648 + 8554872 14983052 26737 Q8NH94 AB065491;ABBA01043717;AL162254;AMYH02021592;BK004230;CH471090;NG_034002;NM_001005236 AAI46391;AAI53161;BAC05743;DAA04628;EAW87540;NP_001005236;Q8NH94 Hs.567736 HG23;OR1L2;OR9-27;OR9-C OTTHUMP00000022063;olfactory receptor 1L1;olfactory receptor 1L2;olfactory receptor 9-C;olfactory receptor OR9-27;olfactory receptor, family 1, subfamily L, member 2 APPROVED protein-coding ENSG00000173679 HGNC:8213 14920 VALIDATED 1354380 OR1J4 olfactory receptor, family 1, subfamily J, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q34.11 95929745 95930686 + 125281420 125282361 + 122519141 122520082 + 1580863;6480464 12213199;12477932;1370859;14983052 26219 A3KME5;Q8NGS1 AB065718;ABBA01043714;AF399553;AL359636;AMYH02021590;BC131606;BK004469;CH471090;CS248174;NM_001004452;X64979 AAI31607;AAI60137;AAK95038;BAC05939;CAJ56614;DAA04867;EAW87533;NP_001004452;Q8NGS1 Hs.632679 2109605 OR1J4__5975 HSHTPCRX01;HTPCRX01;OR9-21 OTTHUMP00000022055;olfactory receptor 1J4;olfactory receptor OR9-21 APPROVED protein-coding ENSG00000239590 HGNC:8211 14918 PROVISIONAL 1352434 OR1K1 olfactory receptor, family 1, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96210746 96211696 + 125562402 125563352 + 122800123 122801073 + 1580863;6480464 12213199;12477932;20583170 392392 Q8NGR3 AB065726;ABBA01043717;AF399622;AL359512;AMYH02021592;BC137033;BC137034;CH471090;CS248372;NM_080859 AAI37034;AAI37035;AAK95107;BAC05947;CAJ56706;EAW87545;NP_543135;Q8NGR3 Hs.632681 hg99 OTTHUMP00000022071;olfactory receptor 1K1 APPROVED protein-coding ENSG00000165204 HGNC:8212 14919 PROVISIONAL 1347689 OR1E1 olfactory receptor, family 1, subfamily E, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3314483 3315427 - 3300760 3301704 - 3397466 3398410 - 1580863;6480464;8554872 10673334;10706615;12213199;1370859;14983052;20379614;8004088;9500546 8387 P30953;Q9NZP3 ABBA01054737;AC087498;AF052041;AF087916;AF095725;AF179761;AF399550;AMYH02032798;BK004237;BK004353;CH471108;NM_003553;U04642;U04682;U78308;U86222;U86274;X64994 AAA17447;AAA18346;AAC39613;AAC39629;AAD00276;AAD17495;AAF03261;AAF37309;AAF40350;AAI66630;AAK95035;CAA46127;DAA04635;DAA04751;EAW90515;NP_003544;P30953 Hs.278485 1688018;1732584;2107457;2145000;5493943 D17S1152;OR1E1__7107;RH70864;RH75979;UniSTS:480485 HGM071;OR13-66;OR17-2;OR17-32;OR1E5;OR1E6;OR1E8P;OR1E9P;OR5-85;OST547 OTTHUMP00000115802;olfactory receptor 13-66;olfactory receptor 17-2/17-32;olfactory receptor 1E1;olfactory receptor 1E5;olfactory receptor 1E6;olfactory receptor 5-85;olfactory receptor OR17-18;olfactory receptor OR17-4;olfactory receptor, family 1, subfamily E, member 5;olfactory receptor, family 1, subfamily E, member 6;olfactory receptor, family 1, subfamily E, member 8 pseudogene;olfactory receptor, family 1, subfamily E, member 9 pseudogene;olfactory receptor-like protein HGMP07I APPROVED protein-coding HGNC:8189 17685 VALIDATED 1342778 OR1L3 olfactory receptor, family 1, subfamily L, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96085727 96086701 + 125437409 125438383 + 122675130 122676104 + 1580863;6480464;8554872 12477932;14983052;15164053 26735 Q8NH93 AB065492;ABBA01043717;AL162254;AMYH02021592;BC136857;BC136859;BK004231;CH471090;CS248170;NM_001005234 AAI36858;AAI36860;BAC05744;CAJ56612;DAA04629;EAW87541;NP_001005234;Q8NH93 Hs.626839 1776154 AFMa239xe9 OR9-28;OR9-D OTTHUMP00000022064;olfactory receptor 1L3;olfactory receptor 9-D;olfactory receptor OR9-28 APPROVED protein-coding ENSG00000171481 HGNC:8215 14921 PROVISIONAL 1351781 OR1L8 olfactory receptor, family 1, subfamily L, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95978150 95979079 - 125329827 125330756 - 122567548 122568477 - 1580863;6480464;8554872 12213199;12477932;14983052 138881 Q8NGR8 AB065721;ABBA01043716;AF399564;AL359636;AMYH02021590;BC140910;BK004447;CH471090;CS248176;NM_001004454 AAI40911;AAK95049;BAC05942;CAJ56615;DAA04845;EAW87536;NP_001004454;Q8NGR8 Hs.632695 OR9-24 OTTHUMP00000022058;olfactory receptor 1L8;olfactory receptor OR9-24 APPROVED protein-coding ENSG00000171496 HGNC:15110 14923 PROVISIONAL 1352858 OR1L4 olfactory receptor, family 1, subfamily L, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96134586 96135521 + 125486269 125487204 + 122723990 122724925 + 1580863 12213199;14983052 254973 Q8NGR5 AB065724;ABBA01043717;AC006313;AF399562;AMYH02021592;BK004232;CH471090;NM_001005235 AAK95047;BAC05945;DAA04630;EAW87542;NP_001005235;Q8NGR5 Hs.626838 2219286 OR1L4__5976 OR1L5;OR9-29;OR9-E;OST046 OTTHUMP00000022065;olfactory receptor 1L4;olfactory receptor 1L5;olfactory receptor 9-E;olfactory receptor OR9-29;olfactory receptor, family 1, subfamily L, member 5 APPROVED protein-coding ENSG00000136939 HGNC:8216 14922 PROVISIONAL 1344733 OR1L6 olfactory receptor, family 1, subfamily L, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96160442 96161377 + 125512127 125513062 + 122749848 122750783 + 12213199;14983052 392390 Q8NGR2 AB065727;ABBA01043717;AC006313;AF399563;AMYH02021592;BK004234;CH471090;NG_034003;NM_001004453 AAK95048;BAC05948;DAA04632;EAW87543;NP_001004453;Q8NGR2 Hs.553790 2219288 OR1L6__5977 HG16;OR1L7;OR9-30 OTTHUMP00000022066;olfactory receptor 1L6;olfactory receptor 1L7;olfactory receptor OR9-30;olfactory receptor, family 1, subfamily L, member 7 APPROVED protein-coding ENSG00000171459 HGNC:8218 17688 VALIDATED 1350413 OR1M1 olfactory receptor, family 1, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9099366 9100307 + 9203921 9204862 + 9093245 9094186 + 1580863;6480464;8554872 12213199;12477932;14983052;21139048 125963 Q8NGA1 AB065925;ABBA01029986;AC011464;AF399549;AMYH02035459;BC137551;BC137555;BK004269;CH471106;NM_001004456 AAI37552;AAI37556;AAK95034;BAC06140;DAA04667;EAW84006;NP_001004456;Q8NGA1 Hs.553577 OR19-5;OR19-6 olfactory receptor 19-6;olfactory receptor 1M1;olfactory receptor OR19-5 APPROVED protein-coding ENSG00000170929 HGNC:8220 17689 PROVISIONAL 1346076 OR1M4P olfactory receptor, family 1, subfamily M, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9089074 9089536 - 9193612 9194074 - 9082936 9083398 - 403232 ABBA01029986;AC016584;AMYH02035459;NG_004407 APPROVED pseudo HGNC:31244 INFERRED 1347497 OR1P1 olfactory receptor, family 1, subfamily P, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3075409 3076401 - 3057184 3058176 - 3153890 3154882 - 6480464 10673334;12213199;12730696;14983052;16625196 8391 Q8NH06 ABBA01054733;AC097370;AF087927;AMYH02032793;NG_002153 Q8NH06 OR17-208;OR1P1P APPROVED pseudo HGNC:8222 INFERRED 1347218 OR1N2 olfactory receptor, family 1, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95963773 95964765 + 125315449 125316441 + 122553170 122554162 + 6480464;8554872 12213199;12477932;14983052;20583170 138882 Q8NGR9 AB065720;ABBA01043716;AF399536;AL359636;AMYH02021590;BC137182;BC137183;BK004445;CH471090;NM_001004457 AAI37183;AAI37184;AAK95021;BAC05941;DAA04843;EAW87535;NP_001004457;Q8NGR9 Hs.632682 OR9-23 OTTHUMP00000022056;olfactory receptor 1N2;olfactory receptor OR9-23 APPROVED protein-coding ENSG00000171501 HGNC:15111 14925 PROVISIONAL 1351301 OR1N1 olfactory receptor, family 1, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95936962 95937897 - 125288637 125289572 - 122526358 122527293 - 1580863;6480464;8554872 12213199;14983052;9500546 138883 Q8NGS0 AB065719;ABBA01043716;AF399547;AL359636;AMYH02021590;BK004446;CH471090;CS248172;NM_012363;U86216 AAC39612;AAI56679;AAK95032;BAC05940;CAJ56613;DAA04844;EAW87534;NP_036495;Q8NGS0 Hs.553604 OR1-26;OR1N3;OR9-22 OTTHUMP00000022057;olfactory receptor 1-26;olfactory receptor 1N1;olfactory receptor 1N3;olfactory receptor OR9-22;olfactory receptor, family 1, subfamily N, member 3 APPROVED protein-coding ENSG00000171505 HGNC:8221 14924 PROVISIONAL 1352741 OR1R1P olfactory receptor, family 1, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3302848 3303886 + 3289140 3290168 + 3385846 3386874 + 10673334 9596 ABBA01054737;AC087498;AF087915;AMYH02032798;NG_002302;U78308 OR17-01;OR17-1;OR1R2P;OR1R3P;OR20A1P APPROVED pseudo HGNC:8226 INFERRED 1343888 OR1S1 olfactory receptor, family 1, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55340640 55341617 + 57982217 57983194 + 58214745 58215722 + 6480464 14983052 219959 Q8NH92 AB065493;ABBA01021486;AMYH02024858;AP004247;BK004299;CH471076;NM_001004458 BAC05745;DAA04697;EAW73800;NP_001004458;Q8NH92 Hs.553645 2110611 OR1S1__7114 OR11-232;OST034 OTTHUMP00000235989;olfactory receptor 1S1;olfactory receptor OR11-232 APPROVED protein-coding ENSG00000172774;ENSG00000280204 HGNC:8227 17690 VALIDATED 1347114 OR1J2 olfactory receptor, family 1, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q34.11 95921398 95922339 + 125231369 125276376 + 122469090 122514097 + 6480464;8554872 10706615;12213199;12908129;1370859;14702039;14983052 26740 Q8NGS2 AB065717;ABBA01043714;AF179760;AF179767;AF399552;AK123016;AL359636;AMYH02021589;AY283941;AY283942;AY283943;AY283944;AY283945;AY283946;AY283947;AY283948;AY283949;AY283950;AY283951;AY283952;AY283953;AY283954;AY283955;AY283956;AY283957;AY283958;AY283959;AY283960;AY283961;AY283962;AY283963;AY283964;AY283965;AY283966;AY283967;AY283968;AY283969;AY283970;AY283971;AY283972;BK004448;CH471090;CS248548;NM_054107;X64989;XM_005251920 AAF40349;AAF40352;AAI40249;AAI46523;AAK95037;AAP32479;AAP32480;AAP32481;AAP32482;AAP32483;AAP32484;AAP32485;AAP32486;AAP32487;AAP32488;AAP32489;AAP32490;AAP32491;AAP32492;AAP32493;AAP32494;AAP32495;AAP32496;AAP32497;AAP32498;AAP32499;AAP32500;AAP32501;AAP32502;AAP32503;AAP32504;AAP32505;AAP32506;AAP32507;AAP32508;AAP32509;AAP32510;BAC05938;BAG53850;CAJ56791;DAA04846;EAW87531;NP_473448;Q8NGS2;XP_005251977 Hs.460145;Hs.745497 FLJ16828;HG152;HSA5;OR1J3;OR1J5;OR9-19;OST044 HTPCRX15;OTTHUMP00000022051;olfactory receptor 1J2;olfactory receptor 1J3;olfactory receptor 1J5;olfactory receptor OR9-19;olfactory receptor, family 1, subfamily J, member 3;olfactory receptor, family 1, subfamily J, member 5 APPROVED protein-coding ENSG00000197233 HGNC:8209 14917 PROVISIONAL 1605486 OR1X1P olfactory receptor, family 1, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 q35.2 175433148 175434392 + 176006145 176007389 + 402236 ABBA01189141;AC139491;AMYH02012808;NG_004630 APPROVED pseudo HGNC:15062 INFERRED 1347631 OR1X5P olfactory receptor, family 1, subfamily X, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 1 769 + 177263413 177264664 - 177836412 177837663 - 402240 AC140125;AMYH02012851;NG_004631 APPROVED pseudo HGNC:31245 INFERRED 1344670 OR1S2 olfactory receptor, family 1, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55329099 55330076 - 57970676 57971653 - 58203204 58204181 - 6480464;8554872 12213199;14983052 219958 Q8NGQ3 AB065736;ABBA01021486;AF399557;AMYH02024858;AP004247;BK004297;CH471076;CS248102;NM_001004459 AAK95042;BAC05957;CAJ56578;DAA04695;EAW73799;NP_001004459;Q8NGQ3 Hs.553644 OR11-231 OTTHUMP00000235987;olfactory receptor 1S2;olfactory receptor OR11-231 APPROVED protein-coding ENSG00000197887 HGNC:15141 14927 VALIDATED 1352035 OR2A1 olfactory receptor, family 2, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 4710 5642 + 144009039 144017558 + 144311946 144320465 + 6480464;8554872 10737800;12213199;14983052 346528 Q8NGT9 AC074386;AC243837;AF399597;BK004217;BK004418;NM_001005287;XM_005249986;XM_005249987 AAK95082;DAA04615;DAA04816;NP_001005287;Q8NGT9;XP_005250043;XP_005250044 Hs.528398 2172760 GDB:1317526 OR2A42 OTTHUMP00000212572;olfactory receptor 2A1/2A42;olfactory receptor OR7-16;olfactory receptor OR7-19 APPROVED protein-coding ENSG00000221970 HGNC:8229 14928 PROVISIONAL 1321692 OR1G1 olfactory receptor, family 1, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3048125 3049066 - 3029904 3030845 - 3126590 3128168 - 1580863;6480464 10673334;12379593;12477932;14983052;15489334;18603653;22926438;23472165;8004088;9500546 8390 O43876;P47890 ABBA01054733;AC097370;AF087928;AMYH02032792;BC069379;BC095520;BK004243;CH471108;NM_003555;U04689;U53583;U86240;XM_006721587 AAA18352;AAC39620;AAC99556;AAF37317;AAH69379;AAH95520;DAA04641;EAW90523;NP_003546;P47890;XP_006721650 Hs.248183 5493947 UniSTS:480490 OR17-130;OR17-209;OR1G2 OTTHUMP00000115754;olfactory receptor 17-209;olfactory receptor 1G1;olfactory receptor 1G2;olfactory receptor OR17-8;olfactory receptor, family 1, subfamily G, member 2 APPROVED protein-coding ENSG00000183024 HGNC:8204 17687 PROVISIONAL 7383231 OR2A1-AS1 OR2A1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 7 7 q35 143997547 144052499 - 144300471 144355520 - 8554872 12477932;16344560 101928492 AC004534;AC004889;AC074386;BC040701;DA029871;DA428537;HG500703;HG500717;NR_126023;XR_242201;XR_242202;XR_242203;XR_242204;XR_242205;XR_242206;XR_242207 Hs.561654;Hs.591830;Hs.657025 RP4-798C17.6 ncrna ENSG00000244479 HGNC:49168 VALIDATED 1350322 OR2A13P olfactory receptor, family 2, subfamily A, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138472306 138473512 + 143839028 143840234 + 144141935 144143141 + 6480464 392140 AB065691;ABBA01000976;AC091768;AC245175;CH236959;NG_004375 APPROVED pseudo HGNC:15083 INFERRED 1346785 OR2A15P olfactory receptor, family 2, subfamily A, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138448837 138449733 - 143815557 143816453 - 144118464 144119360 - 9847074 135942 ABBA01000976;AC091768;AC245175;CH236959;NG_004290 OR2A23P;OR2A28P APPROVED pseudo HGNC:15085 INFERRED 1344604 OR2A14 olfactory receptor, family 2, subfamily A, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138459489 138460418 + 143826206 143827138 + 144129113 144130045 + 6480464;8554872 12213199;12477932;14983052 135941 Q96R47 AB065693;ABBA01000976;AC091768;AC245175;AF399596;BC136889;BK004421;CH236959;CH878732;NM_001001659 AAI36890;AAK95081;BAC05916;DAA04819;EAL23799;EAW55633;NP_001001659;Q96R47 Hs.534547 2107461 OR2A14__7116 OR2A14P;OR2A6;OST182 OTTHUMP00000212567;olfactory receptor 2A14;olfactory receptor 2A6;olfactory receptor OR7-12;olfactory receptor, family 2, subfamily A, member 14 pseudogene;olfactory receptor, family 2, subfamily A, member 6 APPROVED protein-coding ENSG00000221938 HGNC:15084 14930 PROVISIONAL 1348102 OR2A2 olfactory receptor, family 2, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138439957 138440913 + 143806676 143807632 + 144109583 144110539 + 6480464;8554872 12213199;12477932;12853948;14983052 442361 Q6IF42 AB065695;ABBA01000976;AC091768;AC245175;AF399459;BC136742;BK004420;CH236959;CH878732;NM_001005480 AAI36743;BAC05918;DAA04818;EAW55632;NP_001005480;Q6IF42 Hs.553841 OR2A17P;OR2A2P;OR7-11;OST008 OTTHUMP00000212565;olfactory receptor 2A17;olfactory receptor 2A2;olfactory receptor OR7-11;olfactory receptor, family 2, subfamily A, member 17 pseudogene;olfactory receptor, family 2, subfamily A, member 2 pseudogene APPROVED protein-coding ENSG00000221989 HGNC:8230 14931 VALIDATED 1601907 OR2A20P olfactory receptor, family 2, subfamily A, member 20 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 5640 6569 - 143947767 143948696 - 144250674 144251603 - 12477932;14983052 401428 ABBA01000976;AC004889;AC245175;AF327904;AK172840;BC016940;BK004757;NR_002158 Hs.490448;Hs.591830;Hs.745042 1688340;2158394 GDB:4585622;RH93846 OR2A20 APPROVED pseudo ENSG00000170356 HGNC:15413 PROVISIONAL 1343745 OR2A3P olfactory receptor, family 2, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138487430 138488762 + 143854119 143855452 + 144157026 144158359 + 12213199 202861 AB065480;ABBA01000976;AC004889;AC245175;AF399461;CH236959;NG_004292 OR2A18P APPROVED pseudo HGNC:8231 INFERRED 1352196 OR2A4 olfactory receptor, family 2, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 q23 132768253 132769185 - 132021609 132022541 - 131700469 131701401 - 1580863;6480464;8554872 10737800;12477932;14574404;14983052;15489334 79541 O95047 ABBA01025889;AC005587;AL135904;AL157377;AMYH02014495;AW863744;BC120953;BC120954;BF848491;BI020419;BK004444;CB852924;DA927334;NG_033982;NM_030908 AAD05193;AAI20954;AAI20955;CAB99212;CAC05481;DAA04842;NP_112170;O95047 Hs.486488;Hs.658609;Hs.734368 OR2A10 OTTHUMP00000045616;olfactory receptor 2A10;olfactory receptor 2A4;olfactory receptor OR6-37;olfactory receptor, family 2, subfamily A, member 10 APPROVED protein-coding ENSG00000180658 HGNC:14729 17692 VALIDATED 1343723 OR2A42 olfactory receptor, family 2, subfamily A, member 42 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 4728 5642 + 143928876 143936126 - 144231911 144232843 - 1580863;6480464 12213199;14983052 402317 Q8NGT9 AB065692;ABBA01000976;AC004889;AC245175;NM_001001802 BAC05915;NP_001001802;Q8NGT9 Hs.591830 2172760 GDB:1317526 OR2A1 OTTHUMP00000212562;olfactory receptor 2A1/2A42;olfactory receptor OR7-16;olfactory receptor OR7-19 APPROVED protein-coding ENSG00000212807 HGNC:31230 18486 PROVISIONAL 1343005 OR2A25 olfactory receptor, family 2, subfamily A, member 25 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138404581 138405513 + 143771313 143772245 + 144074220 144075152 + 6480464;8554872 12477932;17975119;19023099 392138 A4D2G3 ABBA01000976;AC091768;AC245175;BC136814;BC136829;CH236959;CH878732;NM_001004488 A4D2G3;AAI36815;AAI36830;EAL23797;EAW55630;NP_001004488 Hs.553787 OR2A24P;OR2A25P;OR2A27 OTTHUMP00000212576;olfactory receptor 2A25;olfactory receptor 2A27;olfactory receptor, family 2, subfamily A, member 24 pseudogene;olfactory receptor, family 2, subfamily A, member 25 pseudogene;olfactory receptor, family 2, subfamily A, member 27 APPROVED protein-coding ENSG00000221933 HGNC:19562 17691 PROVISIONAL 1343457 OR2A5 olfactory receptor, family 2, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138380756 138381691 + 143747495 143748430 + 144050402 144051337 + 6480464 12213199;12477932;23251661;9500546 393046 Q8N0W0;Q96R48 AB065477;AB065610;ABBA01000976;AC091768;AF399595;AMYH02016975;BC136858;BC136860;CH236959;CH878732;NM_012365;U86278;U86281 AAC39630;AAC39633;AAI36859;AAI36861;AAK95080;BAC05731;BAC05837;EAW55629;NP_036497;Q96R48 Hs.553793 2219292 OR2A5__5989 OR2A11P;OR2A26;OR2A8;OR7-138;OR7-141 OTTHUMP00000212573;olfactory receptor 2A26;olfactory receptor 2A5;olfactory receptor 2A8;olfactory receptor 7-138/7-141;olfactory receptor, family 2, subfamily A, member 11 pseudogene;olfactory receptor, family 2, subfamily A, member 26;olfactory receptor, family 2, subfamily A, member 8 APPROVED protein-coding ENSG00000221836 HGNC:8232 14932 PROVISIONAL 1345178 OR2AD1P olfactory receptor, family 2, subfamily AD, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30600567 30601494 - 28994457 28995384 - 29026680 29027607 - 79313 ABBA01038029;AL662791;AL662865;AL929561;AMYH02013406;BX248413;BX927167;CR759835;CR759957;CR936923;NG_002239;Z84476 OR2AD1;hs6M1-8P APPROVED pseudo HGNC:14749 INFERRED 1345044 OR1Q1 olfactory receptor, family 1, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96025341 96026285 + 125377017 125377961 + 122614738 122615682 + 1580863;6480464;8554872 12213199;12477932;14983052;18029348;9119360 158131 Q15612 AB065722;ABBA01043717;AF399561;AL162254;AMYH02021591;BC140713;BK004228;CH471090;NM_012364;X89667 AAI40714;AAK95046;BAC05943;CAA61814;DAA04626;EAW87538;NP_036496;Q15612 Hs.684864 HSTPCR106;OR1Q2;OR1Q3;OR9-25;OR9-A;OST226;OST226OR9-A;TPCR106 OTTHUMP00000022060;olfactory receptor 1Q1;olfactory receptor 1Q2;olfactory receptor 1Q3;olfactory receptor 9-A;olfactory receptor OR9-25;olfactory receptor TPCR106;olfactory receptor, family 1, subfamily Q, member 2;olfactory receptor, family 1, subfamily Q, member 3 APPROVED protein-coding ENSG00000165202 HGNC:8223 14926 PROVISIONAL 1348446 OR2AF1P olfactory receptor, family 2, subfamily AF, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 131139483 131140372 + 130753049 130753938 + 131619047 131619936 + 79331 ABBA01042143;AL109853;AL365256;AMYH02040495;NG_002257 OR2AF2P APPROVED pseudo HGNC:14719 INFERRED 1348744 OR2A7 olfactory receptor, family 2, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 7 7 q35 132768253 132769185 - 143955789 143956721 - 144258696 144259628 - 1580863;6480464;8554872 12213199;12477932;14983052 401427 Q96R45;Q9BZC5 ABBA01000976;AC004889;AC245175;AF327904;AF399598;BC136704;BC136711;BK004218;BK004610;NM_001005328 AAG50283;AAI36705;AAI36712;AAK95083;DAA04616;NP_001005328;Q96R45 Hs.658609;Hs.745042 HSDJ0798C17;OR2A21 OTTHUMP00000212566;olfactory receptor 2A7;olfactory receptor OR7-18;olfactory receptor OR7-20;olfactory receptor, family 2, subfamily A, member 21 APPROVED protein-coding ENSG00000243896 HGNC:8234 14933 PROVISIONAL 1344866 OR2AE1 olfactory receptor, family 2, subfamily AE, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 94207935 94208906 - 99473685 99474656 - 99876062 99877033 - 1580863;6480464 12477932;16314882;9847074 81392 Q8NHA4 AB065478;ABBA01013244;AC011904;AMYH02016369;BC137375;BC137376;CH236956;CH471091;CS248242;NM_001005276 AAI37376;AAI37377;BAC05732;CAJ56646;EAW76629;NP_001005276;Q8NHA4 Hs.647523 OR2AE2 OTTHUMP00000210305;olfactory receptor 2AE1;olfactory receptor 2AE2;olfactory receptor, family 2, subfamily AE, member 2 APPROVED protein-coding ENSG00000244623 HGNC:15087 14934 PROVISIONAL 1346511 OR2A41P olfactory receptor, family 2, subfamily A, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138407759 138408220 + 143774486 143774947 + 144077393 144077854 + 9847074 403234 ABBA01000976;AC091768;AC245175;CH236959;NG_004408 APPROVED pseudo HGNC:31246 INFERRED 1351829 OR2AG1 olfactory receptor, family 2, subfamily AG, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6925343 6926340 + 6806248 6807245 + 6785017 6786014 + 6480464;8554872 11416212;12213199;12477932;14983052;16565291;17005854;19909339 144125 Q9H205 AB065823;ABBA01028672;AC087280;AF321237;AF399618;AMYH02024274;BC151143;BK004295;CH471064;CS248194;NM_001004489 AAG45209;AAI51144;AAK95103;BAC06042;CAJ56623;DAA04693;EAW68677;NP_001004489;Q9H205 Hs.553608 2219294 OR2AG1__5990 OR11-79;OR2AG3 OTTHUMP00000230844;hT3 olfactory receptor;olfactory receptor 2AG1;olfactory receptor 2AG3;olfactory receptor OR11-79;olfactory receptor, family 2, subfamily AG, member 3 APPROVED protein-coding ENSG00000170803;ENSG00000279486 HGNC:15142 14935 VALIDATED 1351300 OR2AG2 olfactory receptor, family 2, subfamily AG, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6908338 6909288 - 6789238 6790188 - 6768007 6768957 - 6480464;8554872 12213199;12477932;14983052 338755 A6NM03 AB065539;ABBA01028671;AC091564;AF399487;AMYH02024273;BC140734;BK004747;CH471064;NM_001004490 A6NM03;AAI40735;EAW68678;NP_001004490 Hs.534614 OR11-76;OR2AG2P OTTHUMP00000231353;olfactory receptor 2AG2;olfactory receptor OR11-76 pseudogene;olfactory receptor, family 2, subfamily AG, member 2 pseudogene APPROVED protein-coding ENSG00000188124 HGNC:15143 14936 PROVISIONAL 1350840 OR2AH1P olfactory receptor, family 2, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53784181 53785105 - 56436496 56437420 - 56669020 56669944 - 81336 ABBA01021463;AMYH02024835;AP004245;NG_004244 APPROVED pseudo HGNC:15144 INFERRED 1606720 OR2AI1P olfactory receptor, family 2, subfamily AI, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 175743762 175744690 - 180119835 180120763 - 180692835 180693763 - 134082 ABBA01010079;AC122714;AMYH02012912;NG_004289 APPROVED pseudo HGNC:15063 INFERRED 1353667 OR2AL1P olfactory receptor, family 2, subfamily AL, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q22.3 102228999 102229935 - 105064827 105065763 - 105194100 105195036 - 79547 ABBA01039911;AC017094;AMYH02025508;AP003181;NG_002273 APPROVED pseudo HGNC:14712 INFERRED 1606466 OR2AJ1 olfactory receptor, family 2, subfamily AJ, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221382749 221383691 + 248097179 248098121 + 247933877 247934819 + 6480464 14983052 127608 Q8NGZ0 AB065626;ABBA01031794;AC099571;AMYH02003144;BK004621;NG_004652 BAC05852;Q8NGZ0 OR2AJ1P;OR2AJ1Q APPROVED pseudo HGNC:15001 INFERRED 1343468 OR2AK2 olfactory receptor, family 2, subfamily AK, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221414211 221415218 + 248128634 248129641 + 247965332 247966339 + 1580863;6480464 12477932;14983052 391191 Q8NG84 AB065951;ABBA01031794;AC099570;AMYH02003144;BC136816;BK004457;CH471148;NM_001004491 AAI36817;BAC06164;DAA04855;EAW77212;NP_001004491;Q8NG84 Hs.690413 OR1-47;OR2AK1P OTTHUMP00000038053;olfactory receptor 2AK1;olfactory receptor 2AK2;olfactory receptor OR1-47;olfactory receptor, family 2, subfamily AK, member 1 pseudogene APPROVED protein-coding ENSG00000187080 HGNC:19569 17693 PROVISIONAL 1348816 OR2AM1P olfactory receptor, family 2, subfamily AM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35955257 35955661 + 36021709 36022113 + 36021712 36022116 + 12906860 81366 ABBA01050437;AL138834;AMYH02019470;NG_004255 OR37E APPROVED pseudo HGNC:15113 INFERRED 1352298 OR2AO1P olfactory receptor, family 2, subfamily AO, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138507138 138507915 + 143873834 143874610 + 144176741 144177517 + 9847074 403235 ABBA01000976;AC004889;AC245175;CH236959;NG_004409 APPROVED pseudo HGNC:31247 INFERRED 1344568 OR2AP1 olfactory receptor, family 2, subfamily AP, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55620675 55621601 + 55968199 55969128 + 55574415 55575344 + 6480464 14983052 121129 Q8NGE2 AB065868;ABBA01008383;AC009779;AMYH02026546;BK004260;NM_001258285 BAC06086;DAA04658;NP_001245214;Q8NGE2 Hs.742584 OR2AP1P olfactory receptor 2AP1;olfactory receptor OR12-9;olfactory receptor, family 2, subfamily AP, member 1 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000179615 HGNC:15335 VALIDATED 1345677 OR2AS1P olfactory receptor, family 2, subfamily AS, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221943599 221944080 + 248712723 248713204 - 248549422 248549903 - 81473 ABBA01031805;AC098483;AMYH02003153;NG_004705 APPROVED pseudo HGNC:15004 INFERRED 1346557 OR2A12 olfactory receptor, family 2, subfamily A, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138425478 138426410 + 143792201 143793133 + 144095108 144096040 + 1580863;6480464;8554872 12213199;12477932;12644552;12690205;14983052 346525 A4D2G4;Q8NGT7 AB065694;ABBA01000976;AC091768;AC245175;AF399462;AF546378;AF546391;BC136902;BC136903;BK004419;CH236959;CH878732;NM_001004135 AAI36903;AAI36904;BAC05917;DAA04817;EAL23798;EAW55631;NP_001004135;Q8NGT7 Hs.553708 2219290 OR2A12__5985 OR2A12P;OR2A16P OTTHUMP00000212563;olfactory receptor 2A12;olfactory receptor OR7-10;olfactory receptor, family 2, subfamily A, member 12 pseudogene;olfactory receptor, family 2, subfamily A, member 16 pseudogene APPROVED protein-coding ENSG00000221858 HGNC:15082 14929 PROVISIONAL 1604780 OR2AQ1P olfactory receptor, family 2, subfamily AQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131836161 131836401 + 158765788 158766028 + 158795998 158796238 + 81474 ABBA01016624;AL513205;AMYH02002006;NG_004276 APPROVED pseudo HGNC:15003 INFERRED 1344508 OR2AT1P olfactory receptor, family 2, subfamily AT, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 72148699 72149468 - 74842148 74842917 - 75131103 75131872 - 390225 ABBA01017473;AMYH02025112;AP001972;NG_004338 APPROVED pseudo HGNC:15145 INFERRED 1351644 OR2A9P olfactory receptor, family 2, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 5437 6421 - 143996614 143997598 + 144299521 144300505 + 6480464 10737800;12213199;12477932;12644552;7566098;9500546;9847074 441295 AB065477;AB065610;AC074386;AC243837;AF327904;AF399463;AF546392;AK172840;BC016940;NR_002157;U86282 Hs.591830;Hs.745042 2158394;5113263 GDB:4585622;RH79568 FKSG35;HSDJ0798C17;OR2A19;OR2A22P;OR2A9 APPROVED pseudo HGNC:8236 PROVISIONAL 1351251 OR2AT2P olfactory receptor, family 2, subfamily AT, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 72088725 72089696 - 74782165 74783136 - 75071120 75072091 - 390224 ABBA01017474;AMYH02025111;AP003175;NG_004337 APPROVED pseudo HGNC:19619 INFERRED 1348041 OR2AT4 olfactory receptor, family 2, subfamily AT, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 72106356 72107318 - 74799796 74800758 - 75088751 75089713 - 6480464;8554872 12477932;14983052 341152 A6NND4 ABBA01017474;AMYH02025111;AP003175;BC136958;BC136959;BK004820;NM_001005285 A6NND4;AAI36959;AAI36960;NP_001005285 Hs.554515 2107463 OR2AT4__7119 OR11-265 OTTHUMP00000229545;olfactory receptor 2AT4;olfactory receptor OR11-265 pseudogene APPROVED protein-coding ENSG00000171561 HGNC:19620 17694 PROVISIONAL 1349718 OR2B11 olfactory receptor, family 2, subfamily B, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 220913080 220914033 - 247614331 247615284 - 247451029 247451982 - 6480464 12477932;16710414;19098911 127623 Q5JQS5 ABBA01031788;AL606804;AMYH02003133;BC137181;BC137205;CH471148;NM_001004492 AAI37182;AAI37206;EAW77188;NP_001004492;Q5JQS5 Hs.446999 2219296 OR2B11__5994 OTTHUMP00000038357;novel 7 transmembrane receptor (rhodopsin family) protein;olfactory receptor 2B11 APPROVED protein-coding ENSG00000177535 HGNC:31249 14937 PROVISIONAL 733998 OR2B2 olfactory receptor, family 2, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.3-p21.3 29484991 29486202 - 27878963 27880174 - 27911185 27912396 - 1580863;6480464 12477932;14574404;14983052 81697 Q6IFA1;Q9GZK3 ABBA01038011;AJ302584;AJ302585;AJ302586;AJ302587;AJ302588;AJ302589;AJ302590;AJ302591;AJ302592;AJ302593;AMYH02013390;BC136881;BC136901;BK004361;CH471081;NM_033057;Z98744 AAI36882;AAI36902;CAC20504;CAC20505;CAC20506;CAC20507;CAC20508;CAC20509;CAC20510;CAC20511;CAC20512;CAC20513;DAA04759;EAX03125;NP_149046;Q9GZK3 Hs.307111 OR2B2Q;OR2B9;OR6-1;dJ193B12.4;hs6M1-10 OTTHUMP00000016192;olfactory receptor;olfactory receptor 2B2;olfactory receptor 2B9;olfactory receptor 6-1;olfactory receptor OR6-2;olfactory receptor, family 2, subfamily B, member 9 APPROVED protein-coding ENSG00000168131 HGNC:13966 17695 VALIDATED 1348346 OR2B4P olfactory receptor, family 2, subfamily B, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30864537 30865691 + 29258373 29259527 + 29290596 29291750 + 12213199 442190 AB065472;ABBA01038030;AF399496;AL662781;AL662857;AMYH02013407;BX005432;BX908738;CR753509;CR933842;CR936918;NG_004686 hs6M1-22 APPROVED pseudo HGNC:8239 INFERRED 1351242 OR2B3 olfactory receptor, family 2, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30660089 30661194 - 29053985 29055090 - 29086208 29087313 - 1580863;6480464;8554872 12213199;12477932;12637542;14574404;14983052;18040051;19851445;24047820 442184 O76000 ABBA01038030;AF399632;AJ302537;AJ302538;AJ302539;AJ302540;AJ302541;AJ302542;AJ302543;AJ302544;AJ302545;AJ302546;AJ459873;AL022727;AL662791;AL662852;AL929561;AMYH02013407;BC136817;BC136818;BK004436;BX248093;BX248413;CH471081;CR388407;CR547123;CR933783;CR942175;NM_001005226 AAK95117;CAA18782;CAC20462;CAC20463;CAC20464;CAC20465;CAC20466;CAC20467;CAC20468;CAC20469;CAC20470;CAC20471;DAA04834;EAX03182;NP_001005226;O76000 Hs.553835 6M1-1;OR2B3P;OR6-14;OR6-4 OTTHUMP00000029334;hs6M1-1;olfactory receptor 6-4;olfactory receptor OR6-14;putative olfactory receptor 2B3 APPROVED protein-coding ENSG00000204703 HGNC:8238 14938 VALIDATED 1346989 OR2B8P olfactory receptor, family 2, subfamily B, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 29626966 29628104 - 28020906 28022043 - 28053128 28054265 - 14574404 65944 P59922 ABBA01038013;AC025941;AL121944;AMYH02013391;NG_003194 P59922 OR2B8;OR6-10;dJ313I6.4;hs6M1-29P APPROVED pseudo HGNC:13968 INFERRED 1350969 OR2BH1P olfactory receptor, family 2, subfamily BH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p14.1 29152850 29153713 + 29008182 29009045 + 28986635 28987498 + 403238 AC027465;AMYH02024519;NG_004410 APPROVED pseudo HGNC:31250 INFERRED 1346885 OR2B6 olfactory receptor, family 2, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 29531055 29531996 + 27925019 27925960 + 27957241 27958182 + 1580863;6480464;8554872 12477932;14574404;14983052;15489334;9500546 26212 P58173 ABBA01038012;AL133267;AMYH02013391;BC109251;BC110457;BK004373;CH471081;CS248082;NM_012367;U86270;U86275 AAC39628;AAI09252;AAI10458;CAJ56568;DAA04771;EAX03127;NP_036499;P58173 Hs.532145 1338798;2140113;5493173;7186762 D6S306;RH46275;UniSTS:484585 MGC120190;MGC129828;OR2B1;OR2B1P;OR2B5;OR2B6P;OR5-40;OR5-41;OR6-31;dJ408B20.2 OTTHUMP00000016193;hs6M1-32;olfactory receptor 2B1;olfactory receptor 2B5;olfactory receptor 2B6;olfactory receptor 5-40;olfactory receptor 6-31;olfactory receptor OR6-4;olfactory receptor, family 2, subfamily B, member 1 pseudogene;olfactory receptor, family 2, subfamily B, member 5;olfactory receptor, family 2, subfamily B, member 6 pseudogene APPROVED protein-coding ENSG00000124657 HGNC:8241 17696 VALIDATED 1342915 OR2C1 olfactory receptor, family 2, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3612661 3613696 + 3405889 3406924 + 3322968 3357352 + 1580863;6480464 12477932;14983052;15489334;9847080 4993 O95371 ABBA01026740;AC025283;AF098664;AMYH02031289;BC069158;BC069456;BC126269;BC130328;BK004407;BK004428;CH471112;NM_012368;XM_006720887;XM_006720888 AAC83557;AAH69158;AAH69456;AAI26270;AAI30329;ADR82923;DAA04805;DAA04826;EAW85373;NP_036500;O95371;XP_006720950;XP_006720951 Hs.258574 5492445;5493705 UniSTS:481089;UniSTS:490456 MGC163200;MGC95444;OLFmf3;OR2C2P OTTHUMP00000115588;olfactory receptor 2C1;olfactory receptor 2C2;olfactory receptor OR16-1;olfactory receptor OR16-2;olfactory receptor, family 2, subfamily C, member 2 pseudogene APPROVED protein-coding HGNC:8242 10130 VALIDATED 1346992 OR2C3 olfactory receptor, family 2, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 220992199 220995935 - 247693434 247697141 - 247530132 247533839 - 6480464;8554872 12213199;12477932;14983052;15489334;16710414;19684603 81472 Q8N628 AB065649;ABBA01031788;AF399495;AL606804;AMYH02003134;BC030717;BK004471;NM_198074 AAH30717;ABM86441;ABW03797;BAC05875;DAA04869;NP_932340;Q8N628 Hs.730218 OR2C4;OR2C5P;OST742 OTTHUMP00000038363;olfactory receptor 2C3;olfactory receptor 2C4;olfactory receptor 2C5;olfactory receptor OR1-30;olfactory receptor, family 2, subfamily C, member 4;olfactory receptor, family 2, subfamily C, member 5 pseudogene APPROVED protein-coding ENSG00000196242 HGNC:15005 17697 VALIDATED 1354348 OR2D3 olfactory receptor, family 2, subfamily D, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7061307 7062299 + 6942233 6943225 + 6921002 6921994 + 6480464;8554872 12213199;12477932;14983052 120775 Q8NGH3 AB065825;ABBA01028674;AC090160;AF399592;AMYH02024275;BC137208;BC137209;BK004294;CH471064;NM_001004684 AAI37209;AAI37210;AAK95077;BAC06044;DAA04692;EAW68672;NP_001004684;Q8NGH3 Hs.446766 2219298 OR2D3__5999 OR11-89 OTTHUMP00000230850;olfactory receptor 2D3;olfactory receptor OR11-89 APPROVED protein-coding ENSG00000178358 HGNC:15146 17698 PROVISIONAL 1350512 OR2F1 olfactory receptor, family 2, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138290350 138291438 + 143657020 143658108 + 143959927 143961015 + 1580863;6480464;8554872 12213199;12477932;12637542;12690205;12853948;14983052;15489334;9017400;9500546 26211 O43887;Q13607 ABBA01000975;AC004853;AF399594;AJ459869;AMYH02016975;BC104975;BK004215;CH236959;CH878732;NM_012369;U56421;U86279;U86280 AAB01215;AAC39631;AAC39632;AAC64376;AAI04976;AAK95079;DAA04613;EAL23795;EAW55625;NP_036501;Q13607 Hs.553595 2130167 GDB:6028670 OLF3;OR14-60;OR2F3;OR2F3P;OR2F4;OR2F5;OR7-139;OR7-140 OTTHUMP00000212428;olfactory receptor 2F1;olfactory receptor 2F3;olfactory receptor 2F4;olfactory receptor 2F5;olfactory receptor OR7-7;olfactory receptor, family 2, subfamily F, member 3;olfactory receptor, family 2, subfamily F, member 4;olfactory receptor, family 2, subfamily F, member 5;olfactory receptor-like protein OLF3 APPROVED protein-coding ENSG00000213215;ENSG00000279723 HGNC:8246 16340 608497 PROVISIONAL 1353058 OR2G1P olfactory receptor, family 2, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.32 30803152 30804142 - 29197007 29197997 - 29229230 29230220 - 14983052 26717 ABBA01038030;AL645937;AL662857;AL935156;AMYH02013407;BK004668;BX248084;BX908738;CR753509;NG_004689 OR6-22;OST619;hs6M1-25 APPROVED pseudo HGNC:8251 INFERRED 1344295 OR2AS2P olfactory receptor, family 2, subfamily AS, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221943732 221944081 + 248661612 248661961 + 248498311 248498660 + 403236 ABBA01031803;AC138089;AMYH02003148;NG_004706 APPROVED pseudo HGNC:31248 INFERRED 1344530 OR2B7P olfactory receptor, family 2, subfamily B, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29620269 29621203 + 28014213 28015147 + 28046435 28047369 + 23247143 81695 ABBA01038013;AL121944;AMYH02013391;NG_004280 hs6M1-31P APPROVED pseudo HGNC:13967 INFERRED 1346302 OR2G2 olfactory receptor, family 2, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221050459 221051412 + 247751662 247752615 + 247588360 247589313 + 1580863;6480464;8554872 14983052;16710414 81470 Q8NGZ5 AB065621;ABBA01031788;AL606804;AMYH02003135;BK004472;CH471148;NM_001001915 BAC05847;DAA04870;EAW77195;NP_001001915;Q8NGZ5 Hs.690208 OR1-32 OTTHUMP00000038360;olfactory receptor 2G2;olfactory receptor OR1-32;olfactory receptor, family 2, subfamily G, member 2 pseudogene APPROVED protein-coding ENSG00000177489 HGNC:15007 11412 PROVISIONAL 1343786 OR2G3 olfactory receptor, family 2, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221067685 221068614 + 247768888 247769817 + 247605586 247606515 + 1580863;6480464;8554872 12477932;14983052;16710414 81469 Q8NGZ4 AB065622;ABBA01031788;AL606804;AMYH02003136;BC136712;BC136713;BK004417;CH471148;CS248398;NM_001001914 AAI36713;AAI36714;BAC05848;CAJ56719;DAA04815;EAW77196;NP_001001914;Q8NGZ4 Hs.653227 OR1-33 OTTHUMP00000038361;olfactory receptor 2G3;olfactory receptor OR1-33 APPROVED protein-coding ENSG00000177476 HGNC:15008 14940 PROVISIONAL 1603468 OR2G6 olfactory receptor, family 2, subfamily G, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221970901 221971851 - 248684948 248685898 + 248521647 248522597 + 6480464;8554872 12477932;16710414 391211 Q5TZ20 ABBA01031804;AMYH02003149;BC137245;BC137266;BX537158;CH471148;NM_001013355 AAI37246;AAI37267;EAW77231;NP_001013373;Q5TZ20 Hs.553784 OTTHUMP00000038279;olfactory receptor 2G6 APPROVED protein-coding ENSG00000188558 HGNC:27019 18487 VALIDATED 1345854 OR2E1P olfactory receptor, family 2, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22-p21.3 30029735 30030362 - 28423307 28423934 - 28455530 28456157 - 9847074 26719 ABBA01038019;AC005678;AMYH02013394;NG_004088;Z98745 HS29K1;HSNH0569I24;OR2E1;OR2E2;hs6M1-9;hs6M1-9p APPROVED pseudo HGNC:15507 INFERRED 1350767 OR2H4P olfactory receptor, family 2, subfamily H, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30789158 30790098 + 29183013 29183953 + 29215236 29216176 + 14983052 442189 AB065473;ABBA01038030;AJ302634;AL022727;AL645937;AL662857;AL935156;AMYH02013407;BK004723;BX248084;BX908738;CR759834;CR933537;NG_004685 6M1-7P;OR2H4;OR6-21;OR6-3;dJ80I19.6;hs6M1-7 APPROVED pseudo HGNC:8255 INFERRED 1349294 OR2H5P olfactory receptor, family 2, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31147939 31148517 + 29541850 29542428 + 29574073 29574651 + 14983052 26713 O43627 AB065470;ABBA01038033;AF042075;AF042076;AF042077;AL645936;AL662826;AMYH02013412;BK004545;BK004662;BX000688;BX927223;CR759766;CR759770;CR788300;NG_002319 AAB97431;AAB97432;AAB97433 HS271M21;OLFR42B;OR2H5;OR2H7;OR6-33;OR6-35;hs6M1-13 APPROVED pseudo HGNC:8256 INFERRED 1606622 OR2I1P olfactory receptor, family 2, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 31126965 31128023 + 29520882 29521940 + 29553105 29554163 + 6480464 14983052;23456168 442197 Q8NGU4 AB065686;ABBA01038032;AL645936;AL662826;AMYH02013412;BK004540;BK004661;BX000688;BX927223;CR759770;CR788300;CR942274;NG_004688 BAC05909;Q8NGU4 1677636;1684288 RH80188;RH93978 HS6M1-14;OR2I1;OR2I2;OR2I3P;OR2I4P;OR2I5P;OR2I6;OR2I7P;OR2I8P;OR2I9P;OR6-1;OR6-34 APPROVED pseudo HGNC:8258 INFERRED 1606623 OR2J1 olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30674831 30675766 + 29068720 29069655 + 29100943 29101878 + 6480464 14983052 442185 Q9GZK6 ABBA01038030;AJ302565;AJ302566;AJ302567;AJ302568;AJ302569;AJ302570;AL022727;AL645937;AL662852;AL929561;AMYH02013407;BK004663;BX248093;CR388415;CR547123;CR933783;CR942175;NG_004683 CAC20485;CAC20486;CAC20487;CAC20488;CAC20489;CAC20490;Q9GZK6 6M1-4P;OR2J1P;OR6-15;OR6-5;dJ80I19.2;hs6M1-4 APPROVED pseudo HGNC:8259 INFERRED 1345086 OR2D2 olfactory receptor, family 2, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7031907 7032833 - 6912805 6913731 - 6891574 6892500 - 1580863;6480464;8554872 12213199;12477932;14983052;9787077 120776 Q9H210 AB065824;ABBA01028674;AC087280;AF065876;AF321237;AF399591;AMYH02024275;BC140729;BK004434;CH471064;NM_003700 AAC70020;AAG45204;AAI40730;AAK95076;BAC06043;DAA04832;EAW68673;NP_003691;Q9H210 Hs.690210 2106557 OR2D2__5998 HB2;OR11-610;OR2D1;hg27 OTTHUMP00000230849;olfactory receptor 11-610;olfactory receptor 2D1;olfactory receptor 2D2;olfactory receptor OR11-88;olfactory receptor, family 2, subfamily D, member 1 APPROVED protein-coding ENSG00000166368 HGNC:8244 12247 608494 PROVISIONAL 1349778 OR2J4P olfactory receptor, family 2, subfamily J, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30755412 30756344 + 29149287 29150219 + 29181510 29182442 + 14983052 442188 Q8NGU6 AB065683;ABBA01038030;AL022727;AL645937;AL662852;AL935156;AMYH02013407;BK004756;BX248093;BX927132;CR388415;CR759834;NG_004684 BAC05906 OR6-20;OR6-9;dJ80I19.5;hs6M1-5 APPROVED pseudo HGNC:8262 INFERRED 1342486 OR2K2 olfactory receptor, family 2, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.3 84588883 84589833 - 114089763 114091952 - 111327483 111329672 - 1580863;6480464 12477932;1370859;14983052;15164053;15489334;17010214;21738480 26248 Q8NGT1 AB065707;ABBA01042734;AL354661;AMYH02021477;BC111086;BK004277;CH471105;NM_205859;X64977;XM_005251914 AAI11087;BAC05929;DAA04675;EAW59071;NP_995581;Q8NGT1;XP_005251971 Hs.381312 2219300;5493529 OR2K2__6001;UniSTS:487063 HSHTPCRH06;HTPCRH06;MGC133152;OR2AN1P;OR2AR1P OTTHUMP00000021907;olfactory receptor 2K2;olfactory receptor OR9-17;olfactory receptor, family 2, subfamily AN, member 1 pseudogene;olfactory receptor, family 2, subfamily AR, member 1 pseudogene APPROVED protein-coding ENSG00000171133 HGNC:8264 17701 PROVISIONAL 1349873 OR2F2 olfactory receptor, family 2, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138265655 138266608 + 143632326 143633279 + 143935233 143936186 + 6480464;8554872 12477932;12690205;12853948;14983052;20855565 135948 O95006 ABBA01000975;AC004853;AMYH02016975;BC136812;BC136813;BK004214;CH236959;CH878732;NM_001004685 AAI36813;AAI36814;DAA04612;EAL23794;EAW55624;NP_001004685;O95006 Hs.553596 OR7-1 OTTHUMP00000212427;olfactory receptor 2F2;olfactory receptor 7-1;olfactory receptor OR7-6 APPROVED protein-coding ENSG00000221910 HGNC:8247 14939 PROVISIONAL 1353217 OR2H1 olfactory receptor, family 2, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.32 31032274 31038143 + 29424947 29432099 + 29458360 29464322 + 1580863;6480464 12477932;12637542;14574404;14983052;15489334;17207965;19851445;20466734;21044950;22610502 26716 Q8IU63;Q9GZK4 ABBA01038032;AC004178;AF042073;AF042074;AF042078;AF044491;AF044492;AF044493;AJ302604;AJ302605;AJ302606;AJ302607;AJ302608;AJ302609;AJ302610;AJ302611;AJ302612;AJ302613;AJ459835;AJ459836;AJ459840;AJ459844;AJ459845;AJ459846;AJ459847;AJ459849;AJ459850;AK127984;AL035542;AL645927;AL662869;AMYH02013412;BC036097;BC048991;BK004209;BX000531;BX247947;BX927133;CH471081;CR388393;CR759768;CR759956;NM_030883;XM_005249008;XM_005249009;XM_005272791;XM_005272792;XM_005274845;XM_005274846;XM_005274937;XM_005274938;XM_005275091;XM_005275092;XM_005275233;XM_005275234;XM_005275367;XM_005275368;XM_005275527;XM_005275528;XM_006725032;XM_006725033;XM_006725809;XM_006725810;XM_006725990;XM_006725991 AAB97429;AAB97430;AAC00184;AAC00188;AAC00189;AAH48991;ADQ32472;BAG54612;CAB44506;CAC20524;CAC20525;CAC20526;CAC20527;CAC20528;CAC20529;CAC20530;CAC20531;CAC20532;CAC20533;CAD31037;CAD31038;CAD31039;DAA04607;EAX03195;EAX03196;NP_112145;Q9GZK4;XP_005249065;XP_005249066;XP_005272848;XP_005272849;XP_005274902;XP_005274903;XP_005274994;XP_005274995;XP_005275148;XP_005275149;XP_005275290;XP_005275291;XP_005275424;XP_005275425;XP_005275584;XP_005275585;XP_006725095;XP_006725096;XP_006725872;XP_006725873;XP_006726053;XP_006726054 Hs.434715;Hs.714219;Hs.740793 6M1-16;HS6M1-16;OLFR42A-9004-14;OR2H6;OR2H8;OR6-2;dJ994E9.4 OLFR42A-9004.14/9026.2;OTTHUMP00000029056;OTTHUMP00000108529;OTTHUMP00000108872;olfactory receptor 2H1;olfactory receptor 2H6;olfactory receptor 2H8;olfactory receptor 6-2;olfactory receptor OR6-32;olfactory receptor, family 2, subfamily H, member 6;olfactory receptor, family 2, subfamily H, member 8 APPROVED protein-coding ENSG00000204688 HGNC:8252 17699 PROVISIONAL 1346691 OR2L1P olfactory receptor, family 2, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221438974 221439898 + 248153569 248154493 + 247990267 247991191 + 6480464 1370859 26247 AB065442;ABBA01031794;AC099570;AMYH02003144;NR_002145;X64980 Hs.684887 HSHTPCRX02;HTPCRX02;OR2L1;OR2L7P APPROVED pseudo ENSG00000224227 HGNC:8265 PROVISIONAL 1347355 OR2L2 olfactory receptor, family 2, subfamily L, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221486878 221488011 + 248201474 248202607 + 248038172 248039305 + 1580863;6480464;8554872 12477932;1370859;14983052;15489334 26246 Q8NH16 AB065597;ABBA01031794;AC099570;AMYH02003146;BC104792;BC104794;BK004752;CH471148;NM_001004686;X64978 AAI04793;AAI04795;BAC05825;EAW77214;NP_001004686;Q8NH16 Hs.684888 5493383 UniSTS:485894 HSHTPCRH07;HTPCRH07;OR1-48;OR2L12;OR2L4P OTTHUMP00000038063;olfactory receptor 2L12;olfactory receptor 2L2;olfactory receptor 2L4;olfactory receptor OR1-48 pseudogene;olfactory receptor, family 2, subfamily L, member 12;olfactory receptor, family 2, subfamily L, member 4 pseudogene APPROVED protein-coding ENSG00000203663 HGNC:8266 14942 PROVISIONAL 1346281 OR2L5 olfactory receptor, family 2, subfamily L, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221470656 221471591 + 248185250 248186188 + 248021948 248022886 + 6480464 14983052 81466 Q8NG80 AB065956;ABBA01031794;AC099570;AMYH02003145;BK004458;NM_001258284 BAC06169;DAA04856;NP_001245213;Q8NG80 Hs.742583 OR2L11;OR2L5P olfactory receptor 2L11;olfactory receptor 2L5;olfactory receptor OR1-53;olfactory receptor, family 2, subfamily L, member 11;olfactory receptor, family 2, subfamily L, member 5 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000197454 HGNC:15011 VALIDATED 1345416 OR2L3 olfactory receptor, family 2, subfamily L, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221509389 221510327 + 248223984 248224922 + 248060682 248061620 + 1580863;6480464;8554872 12477932 391192 Q8NG85 AB065950;ABBA01031794;AC099570;AMYH02003146;BC137039;BC137040;CH471148;NM_001004687 AAI37040;AAI37041;BAC06163;EAW77215;NP_001004687;Q8NG85 Hs.690412 2106559 OR2L3__6003 OTTHUMP00000038049;olfactory receptor 2L3 APPROVED protein-coding ENSG00000198128 HGNC:15009 14943 PROVISIONAL 1353815 OR2J2 olfactory receptor, family 2, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.31 30747424 30748464 + 29141311 29142351 + 29173534 29174574 + 1580863;6480464;8554872 11337468;12477932;12637542;14574404;14983052;15489334;16939646;19851445;24047820 26707 O76002 ABBA01038030;AJ302571;AJ302572;AJ302573;AJ302574;AJ302575;AJ302576;AJ302577;AJ302578;AJ302579;AJ302580;AJ302581;AJ302582;AJ302583;AJ459862;AL022727;AL645937;AL662852;AL935156;AMYH02013407;BC069121;BC108896;BC108897;BC108898;BC108899;BK004438;BU171389;BX248093;BX927132;CH471081;CR388415;CR759834;CR774181;NM_030905 AAH69121;AAI08897;AAI08898;AAI08899;AAI08900;CAA18784;CAC20491;CAC20492;CAC20493;CAC20494;CAC20495;CAC20496;CAC20497;CAC20498;CAC20499;CAC20500;CAC20501;CAC20502;CAC20503;DAA04836;EAX03185;NP_112167;O76002 Hs.163518 5493949 UniSTS:480494 MGC119134;MGC119135;MGC119136;MGC119137;OR6-19;OR6-8;OR6.3.8;ORL684;dJ80I19.4;hs6M1-6 OTTHUMP00000029105;olfactory receptor 2J2;olfactory receptor 6-8;olfactory receptor OR6-19 APPROVED protein-coding ENSG00000204700 HGNC:8260 17700 VALIDATED 1348407 OR2L6P olfactory receptor, family 2, subfamily L, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221451839 221452774 + 248166433 248167371 + 248003131 248004069 + 81465 ABBA01031794;AC099570;AMYH02003144;NG_004274 APPROVED pseudo HGNC:15012 INFERRED 1351141 OR2J3 olfactory receptor, family 2, subfamily J, member 3 This gene encodes a G-protein-coupled receptor (GPCR) that functions as an olfactory receptor. Olfactory receptors interact with odorant molecules in the nose to initiate a neuronal response that triggers the perception of a smell. The protein encoded by this gene responds to cis-3-hexen-1-ol, which is released by wounded plants, including cut grass. This gene is situated in a cluster of similar olfactory-receptor coding genes on chromosome 6. [provided by RefSeq, May 2013] 6 6 6 p22.1 30685777 30686712 + 29079587 29080661 + 29111810 29112884 + 1580863;6480464;8554872 11337468;12213199;12477932;12637542;14574404;14983052;16939646;19851445;20881960;22714804;23656994;24047820 442186 O76001 ABBA01038030;AF399630;AJ302547;AJ302548;AJ302549;AJ302550;AJ302551;AJ302552;AJ302553;AJ302554;AJ302555;AJ302556;AJ302557;AJ302558;AL022727;AL645937;AL662852;AL929561;AMYH02013407;BC136973;BC136975;BK004437;BX248093;CR388415;CR547123;CR933783;CR942175;NG_033252;NM_001005216 AAI36974;AAI36976;AAK95115;CAA18783;CAC20472;CAC20473;CAC20474;CAC20475;CAC20476;CAC20477;CAC20478;CAC21440;CAC21441;CAC21442;CAC21443;CAC21444;DAA04835;NP_001005216;O76001 Hs.738947 6M1-3;C3HEXS;HS6M1-3;OR6-16;OR6-6;OR6.3.6;ORL671 OTTHUMP00000029106;olfactory receptor 2J3;olfactory receptor 6-6;olfactory receptor OR6-16 APPROVED protein-coding ENSG00000204701 HGNC:8261 14941 615016;615082 REVIEWED 1351011 OR2L9P olfactory receptor, family 2, subfamily L, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221423450 221424383 + 248138045 248138978 + 247974743 247975676 + 81462 ABBA01031794;AC099570;AMYH02003144;NG_004273 APPROVED pseudo HGNC:15015 INFERRED 1349762 OR2L8 olfactory receptor, family 2, subfamily L, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221397730 221398668 + 248112160 248113098 + 247948858 247949796 + 1580863;6480464;8554872 12477932;14983052 391190 Q8NGY9 AB065627;ABBA01031794;AC099571;AMYH02003144;BC140751;BK004459;CH471148;NM_001001963 AAI40752;BAC05853;DAA04857;EAW77211;NP_001001963;Q8NGY9 Hs.690212 OTTHUMP00000038050;olfactory receptor 2L8;olfactory receptor OR1-46 APPROVED protein-coding ENSG00000196936;ENSG00000279263 HGNC:15014 14944 PROVISIONAL 1348875 OR2H2 olfactory receptor, family 2, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31161772 31162834 + 29553818 29556745 + 29586041 29588968 + 6480464 10880742;11282967;12213199;12477932;12637542;14574404;14983052;15489334;17971048;19833159;19851445;7665158;8662070 7932 O95918 AB065965;ABBA01038033;AF211939;AF211940;AF211941;AF211942;AF399631;AJ459831;AJ459832;AJ459839;AL031983;AL645936;AL662826;AMYH02013412;BC069146;BC101683;BC112176;BK004225;BX000688;BX927223;CH471081;CR759766;CR759870;CR788300;L35475;NM_007160;XM_005249407;XM_005272893;XM_005274892;XM_005275048;XM_005275183;XM_005275306;XM_005275478 AAB36567;AAF98751;AAF98752;AAF98753;AAF98754;AAH69146;AAI01684;AAI12177;AAK95116;ABZ92454;BAC06177;CAA21455;DAA04623;EAX03204;NP_009091;O95918;XP_005249464;XP_005272950;XP_005274949;XP_005275105;XP_005275240;XP_005275363;XP_005275535 Hs.529493;Hs.697691 5493291 UniSTS:485614 FAT11;MGC126732;MGC138381;OLFR2;OLFR42B;OR2H3;dJ271M21.2;hs6M1-12 OTTHUMP00000029058;Olfactory receptor 2;olfactory receptor 2H2;olfactory receptor 2H3;olfactory receptor OR6-36;olfactory receptor, family 2, subfamily H, member 3;olfactory receptor-like protein FAT11 APPROVED protein-coding HGNC:8253 08367 600578 PROVISIONAL 1351985 OR2M1P olfactory receptor, family 2, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221570933 221571577 + 248285438 248286082 + 248122136 248122780 + 6480464 11705801;12213199 388762 ABBA01031796;AF308814;AF399615;AL592313;AMYH02003147;NR_002141 AAK95100 Hs.528509 JCG10;OR2M1;OST037 APPROVED pseudo HGNC:8267 PROVISIONAL 1343135 OR2M3 olfactory receptor, family 2, subfamily M, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221651007 221651945 + 248366370 248367308 + 248203068 248204006 + 1580863;6480464;8554872 12213199;12477932;14983052;16710414 127062 Q8NG83 AB065952;ABBA01031798;AF399483;AL450303;AMYH02003147;BC136970;BC136971;BK004482;CH471148;CS248608;NM_001004689 AAI36971;AAI36972;BAC06165;CAJ56820;DAA04880;EAW77218;NP_001004689;Q8NG83 Hs.553581 OR1-54;OR2M3P;OR2M6;OST003 OTTHUMP00000038276;novel 7 transmembrane receptor (rhodopsin family) protein;olfactory receptor 2M3;olfactory receptor 2M6;olfactory receptor OR1-54;olfactory receptor, family 2, subfamily M, member 3 pseudogene;olfactory receptor, family 2, subfamily M, member 6 APPROVED protein-coding ENSG00000228198 HGNC:8269 14945 PROVISIONAL 1347987 OR2M4 olfactory receptor, family 2, subfamily M, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221686811 221687746 + 248402231 248403166 + 248238929 248239864 + 633349;6480464 9119360 12213199;1370859;14983052;16710414 26245 Q96R27 AB065953;ABBA01031798;AF399617;AL450303;AMYH02003148;BK004483;CH471148;CS248606;NM_017504;X64992;X89666 AAI41462;AAI48719;AAK95102;BAC06166;CAA61813;CAJ56819;DAA04881;EAW77219;NP_059974;Q96R27 Hs.381309 2219302;5493171 OR2M4__6005;UniSTS:484586 HSHTPCRX18;HTPCRX18;OR1-55;OST710;TPCR100 OTTHUMP00000038273;novel 7 transmembrane receptor (rhodopsin family) protein;olfactory receptor 2M4;olfactory receptor OR1-55;olfactory receptor TPCR100 APPROVED protein-coding ENSG00000171180 HGNC:8270 14946 PROVISIONAL 1352477 OR2M7 olfactory receptor, family 2, subfamily M, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221771448 221772386 - 248486932 248487870 - 248323630 248324568 - 1580863;6480464;8554872 12477932;14983052;16710414;20585627 391196 Q8NG81 AB065954;ABBA01031799;AL450303;AMYH02003148;BC136944;BC136946;BK004486;CH471148;CS248612;NM_001004691 AAI36945;AAI36947;BAC06167;CAJ56822;DAA04884;EAW77222;NP_001004691;Q8NG81 Hs.530570 OR1-58 OTTHUMP00000038278;olfactory receptor 2M7;olfactory receptor OR1-58 APPROVED protein-coding ENSG00000177186 HGNC:19594 14948 PROVISIONAL 1348735 OR2L13 olfactory receptor, family 2, subfamily L, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221386063 221549651 + 248100493 248264224 + 247937191 248100922 + 1580863;6480464;8554872 12477932;15489334;16710414;17207965;19945174;20379614 284521 Q8N349 ABBA01031794;ABBA01031795;AC099570;AC099571;AL513488;AMYH02003144;AMYH02003145;AMYH02003146;AMYH02003147;BC028158;CH471148;NM_175911 AAH28158;ADQ32478;EAW77210;NP_787107;Q8N349 Hs.372936 1335946;2106559;2148794 AL009388;D1S2682;OR2L3__6003 MGC40047;OR2L14 OTTHUMP00000038265;olfactory receptor 2L13;olfactory receptor 2L14;olfactory receptor, family 2, subfamily L, member 14 APPROVED protein-coding ENSG00000196071 HGNC:19578 17702 PROVISIONAL 1351720 OR2M2 olfactory receptor, family 2, subfamily M, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221628778 221629821 + 248343288 248344331 + 248179986 248181029 + 1580863;6480464;8554872 12213199;16710414 391194 Q96R28 ABBA01031798;AF399616;AL592313;AMYH02003147;CH471148;NM_001004688 AAK95101;EAW77217;NP_001004688;Q96R28 Hs.534728 OR2M2Q;OST423 OTTHUMP00000038277;olfactory receptor 2M2 APPROVED protein-coding ENSG00000198601 HGNC:8268 17703 PROVISIONAL 1351101 OR2M5 olfactory receptor, family 2, subfamily M, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221593941 221594879 + 248308450 248309388 + 248145148 248146086 + 6480464 14983052 127059 A3KFT3 ABBA01031797;AL592313;AMYH02003147;CH471148;NM_001004690 A3KFT3;EAW77216;NP_001004690 Hs.553580 OR2M5P OTTHUMP00000038266;olfactory receptor 2M5;olfactory receptor, family 2, subfamily M, member 5 pseudogene APPROVED protein-coding ENSG00000162727 HGNC:19576 14947 PROVISIONAL 1352301 OR2S1P olfactory receptor, family 2, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35946730 35947676 + 36013182 36014128 + 36013185 36014131 + 12906860 392313 ABBA01050437;AL138834;AMYH02019470;NG_004379 OR37D;OST611 APPROVED pseudo HGNC:8275 INFERRED 1346182 OR2S2 olfactory receptor, family 2, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35890670 35891716 - 35957105 35958151 - 35957108 35958154 - 1580863;6480464 10452948;12213199;12477932;12906860;14983052;15164053;15489334;20677014 56656 Q9NQN1 ABBA01023129;AF399601;AL135841;AMYH02019468;BC104869;BC113651;BK004443;CH471071;NM_019897 AAI04870;AAI13652;AAK95086;ADR82938;DAA04841;EAW58320;NP_063950;Q9NQN1 Hs.553540 5492947;5493985 UniSTS:480652;UniSTS:483334 OR37A;OST715 OTTHUMP00000021364;olfactory receptor 2S2;olfactory receptor OR9-3 APPROVED protein-coding ENSG00000122718;ENSG00000278889 HGNC:8276 17704 PROVISIONAL 1353621 OR2T10 olfactory receptor, family 2, subfamily T, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 222055264 222056202 - 248756131 248757069 - 248592830 248593768 - 1580863;6480464;8554872 12477932;14983052 127069 Q8NGZ9 AB065616;ABBA01023056;AC098483;AMYH02003153;BC136937;BC136940;BK004478;CH471257;NM_001004693 AAI36938;AAI36941;BAC05843;DAA04876;EAW57528;NP_001004693;Q8NGZ9 Hs.553585 OR1-64 OTTHUMP00000038180;olfactory receptor 2T10;olfactory receptor OR1-64 APPROVED protein-coding ENSG00000184022 HGNC:19573 14950 PROVISIONAL 1349543 OR2T11 olfactory receptor, family 2, subfamily T, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 222088603 222089553 - 248789479 248790429 - 248626178 248627128 - 1580863;6480464;8554872 12477932;14983052 127077 Q8NH01 AB065614;ABBA01023056;AC098483;AMYH02003153;BC140749;BK004476;CH471257;NM_001001964 AAI40750;BAC05841;DAA04874;EAW57529;NP_001001964;Q8NH01 Hs.626619 OR2T11Q OTTHUMP00000038178;olfactory receptor 2T11;olfactory receptor OR1-65 APPROVED protein-coding ENSG00000183130;ENSG00000279301 HGNC:19574 17705 PROVISIONAL 1604950 OR2Q1P olfactory receptor, family 2, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138311176 138312303 + 143677898 143679025 + 143980805 143981932 + 12213199;9847074 346524 ABBA01000975;AC004853;AF399458;AMYH02016975;CH236959;NG_004310 OR7-2 APPROVED pseudo HGNC:8273 INFERRED 1343159 OR2N1P olfactory receptor, family 2, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.31 30711652 30712798 - 29105547 29106693 - 29137770 29138916 - 1580863;6480464 14983052 26701 O95499 ABBA01038030;AJ132194;AL645937;AL662852;AL929561;AMYH02013407;BK004435;BX248093;BX927132;CR388415;CR759834;CR774181;NG_002216 CAA10602;DAA04833 HS6M1-2;OLFR89;OR6-7 APPROVED pseudo HGNC:8271 INFERRED 1350170 OR2T12 olfactory receptor, family 2, subfamily T, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221742492 221743454 - 248457918 248458880 - 248294616 248295578 - 1580863;6480464;8554872 14983052;16710414 127064 Q8NG77 AB065960;ABBA01031798;AL450303;AMYH02003148;BK004485;CH471148;CS248610;NM_001004692 BAC06172;CAJ56821;DAA04883;EAW77221;NP_001004692;Q8NG77 Hs.553582 OR1-57 OTTHUMP00000038274;novel 7 transmembrane receptor (rhodopsin family) protein;olfactory receptor 2T12;olfactory receptor OR1-57 APPROVED protein-coding ENSG00000177201 HGNC:19592 14951 PROVISIONAL 1350912 OR2T27 olfactory receptor, family 2, subfamily T, member 27 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 222100485 222101452 - 248813232 248814185 - 248649931 248650884 - 1580863;6480464;8554872 14983052 403239 Q8NH04 AB065611;ABBA01023059;AC098483;AMYH02003153;BK004474;NM_001001824 BAC05838;DAA04872;NP_001001824;Q8NH04 Hs.553814 OTTHUMP00000038174;olfactory receptor 2T27;olfactory receptor OR1-67 APPROVED protein-coding ENSG00000187701 HGNC:31252 14952 PROVISIONAL 1346426 OR2T2 olfactory receptor, family 2, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 222100387 222101452 - 248616099 248617073 + 248452798 248453772 + 6480464;8554872 12213199;12477932;14983052;16710414 401992 Q6IF00 ABBA01031801;AC138089;AF399479;AMYH02003148;BC136961;BC136962;BK004462;CS248406;NM_001004136 AAI36962;AAI36963;CAJ56723;DAA04860;NP_001004136;Q6IF00 Hs.554482 1692776 AL034155 OR1-43;OR2T2P OTTHUMP00000038302;olfactory receptor 2T2;olfactory receptor OR1-43;olfactory receptor, family 2, subfamily T, member 2 pseudogene APPROVED protein-coding ENSG00000196240 HGNC:14725 17706 PROVISIONAL 1342637 OR2T29 olfactory receptor, family 2, subfamily T, member 29 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221934029 221934958 + 248721845 248722792 - 248558544 248559491 - 1580863;6480464 343563 Q8NH02 AB065613;ABBA01031805;AC098483;AMYH02003153;NM_001004694 BAC05840;NP_001004694;Q8NH02 Hs.553707 OTTHUMP00000038177;olfactory receptor 2T29 APPROVED protein-coding ENSG00000182783 HGNC:31253 17707 PROVISIONAL 1353113 OR2T1 olfactory receptor, family 2, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221855733 221856842 + 248569296 248570405 + 248405995 248407104 + 1580863;6480464 12213199;14983052;9500546 26696 O43869 ABBA01031801;AC138089;AC231953;AC240144;AF399613;AMYH02003148;BK004463;CH471148;NM_030904;U86215 AAC39611;AAI48404;AAK95098;DAA04861;EAW77226;NP_112166;O43869 Hs.626885 2128894;2219304 AL009434;OR2T1__6008 OR1-25 OTTHUMP00000038268;olfactory receptor 1-25;olfactory receptor 2T1;olfactory receptor OR1-61 APPROVED protein-coding ENSG00000175143 HGNC:8277 14949 PROVISIONAL 1349717 OR2T32P olfactory receptor, family 2, subfamily T, member 32 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221532338 221533298 - 248246935 248247898 - 248083633 248084596 - 403241 ABBA01031795;AL513488;AMYH02003146;NG_004411 APPROVED pseudo HGNC:31254 INFERRED 1344769 OR2P1P olfactory receptor, family 2, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30645719 30646453 - 29039609 29040343 - 29071832 29072566 - 442183 ABBA01038029;AL662791;AL662852;AL929561;AMYH02013406;BX248413;CR388407;CR547123;CR933783;NG_004693 1757007 SHGC-144365 hs6M1-26 APPROVED pseudo HGNC:8272 INFERRED 1349827 OR2T3 olfactory receptor, family 2, subfamily T, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 222036233 222037189 - 248636652 248637608 + 248473351 248474307 + 6480464;8554872 12477932;16710414 343173 Q8NH03 AB065612;ABBA01031801;AC138089;AMYH02003148;BC136915;BC136916;NM_001005495 AAI36916;AAI36917;BAC05839;NP_001005495;Q8NH03 Hs.554481 OTTHUMP00000038270;olfactory receptor 2T3;seven transmembrane helix receptor APPROVED protein-coding ENSG00000196539 HGNC:14727 17708 PROVISIONAL 1343251 OR2T33 olfactory receptor, family 2, subfamily T, member 33 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221720730 221721692 - 248436154 248437116 - 248272852 248273814 - 1580863;6480464 12477932;14983052;16710414 391195 Q8NG76 AB065961;ABBA01031798;AL450303;AMYH02003148;BC136994;BC136995;BK004484;CH471148;CS248614;NM_001004695 AAI36995;AAI36996;BAC06173;CAJ56823;DAA04882;EAW77220;NP_001004695;Q8NG76 Hs.553783 OR1-56 OTTHUMP00000038275;novel 7 transmembrane receptor (rhodopsin family) protein;olfactory receptor 2T33;olfactory receptor OR1-56 APPROVED protein-coding ENSG00000177212 HGNC:31255 14953 PROVISIONAL 1354420 OR2T35 olfactory receptor, family 2, subfamily T, member 35 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221898855 221899829 + 248801588 248802559 - 248638287 248639258 - 1580863;6480464;8554872 14983052;21145461;23824909 403244 Q8NGX2 AB065644;ABBA01023057;AC098483;AMYH02003153;BK004475;NM_001001827 AAI56816;BAC05870;DAA04873;NP_001001827;Q8NGX2 Hs.534846 OTTHUMP00000038176;olfactory receptor 2T35;olfactory receptor OR1-66 APPROVED protein-coding ENSG00000177151 HGNC:31257 17709 PROVISIONAL 1345089 OR2T34 olfactory receptor, family 2, subfamily T, member 34 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221919371 221920327 + 248737102 248738058 - 248573801 248574757 - 1580863;6480464;8554872 12213199;12477932;14983052;16710414 127068 Q8NGX1 AB065645;ABBA01023056;AC098483;AF399612;AMYH02003153;BC136924;BC136926;BK004477;NM_001001821 AAI36925;AAI36927;AAK95097;BAC05871;DAA04875;NP_001001821;Q8NGX1 Hs.553584 OTTHUMP00000038179;olfactory receptor 2T34;olfactory receptor OR1-63 APPROVED protein-coding ENSG00000183310 HGNC:31256 14954 PROVISIONAL 1343167 OR2T6 olfactory receptor, family 2, subfamily T, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221835150 221836076 + 248550910 248551836 + 248387609 248388535 + 6480464;8554872 12213199;15174051 254879 Q8NHC8 AB065438;ABBA01031801;AC138089;AC231953;AC240144;AF399481;AMYH02003148;CH471148;NM_001005471 BAC05705;EAW77225;NP_001005471;Q8NHC8 Hs.626884 OR2T6P;OR2T9;OST703 OTTHUMP00000038267;olfactory receptor 2T6;olfactory receptor 2T9;olfactory receptor, family 2, subfamily T, member 6 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000198104 HGNC:15018 17711 PROVISIONAL 1351819 OR2T5 olfactory receptor, family 2, subfamily T, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221934011 221934958 + 248651890 248652837 + 248488589 248489536 + 6480464 12477932;14983052;16710414 401993 Q6IEZ7 ABBA01031803;AC138089;AMYH02003148;BC140747;BC140915;BK004465;CS248408;NM_001004697 AAI40748;AAI40916;CAJ56724;DAA04863;NP_001004697;Q6IEZ7 Hs.553808 OR1-62 OTTHUMP00000038303;olfactory receptor 2T5;olfactory receptor OR1-62 APPROVED protein-coding ENSG00000203661 HGNC:15017 17710 PROVISIONAL 1347656 OR2T7 olfactory receptor, family 2, subfamily T, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 q44 248604483 248605434 + 248441182 248442133 + 12213199;14983052;16710414 81458 P0C7T2 ABBA01031801;AC138089;AMYH02003148;NG_004272 P0C7T2 OR2T7P;OST723 APPROVED pseudo HGNC:15019 INFERRED 1351258 OR2T8 olfactory receptor, family 2, subfamily T, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221369888 221370826 + 248080963 248085258 + 247917661 247921956 + 6480464 12213199 343172 A6NH00 ABBA01031794;AC099570;AC099571;AF399488;AMYH02003144;CH471148;NM_001005522;XM_005273117 A6NH00;EAW77208;NP_001005522;XP_005273174 Hs.521114 OR2T8P OTTHUMP00000038056;olfactory receptor 2T8;olfactory receptor, family 2, subfamily T, member 8 pseudogene APPROVED protein-coding ENSG00000177462 HGNC:15020 17712 VALIDATED 1348617 OR2U1P olfactory receptor, family 2, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.32 30836582 30838002 - 29230436 29231856 - 29262659 29264079 - 14983052 26695 Q8NGU7 AB065682;ABBA01038030;AL050339;AL662857;AL672167;AMYH02013407;BK004667;BX005432;BX908738;CR753509;NG_004625 BAC05905 OR2AU1P;hs6M1-24 APPROVED pseudo HGNC:8278 INFERRED 1350632 OR2U2P olfactory receptor, family 2, subfamily U, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.32 30842388 30843344 - 29236242 29237198 - 29268465 29269421 - 14983052 26694 ABBA01038030;AL662857;AL672167;AMYH02013407;BK004666;BX005432;BX908738;CR753509;CR936918;NG_004687 OR6-24;hs6M1-23 APPROVED pseudo HGNC:8279 INFERRED 1342510 OR2V2 olfactory receptor, family 2, subfamily V, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 176209206 176210153 + 180581943 180582890 + 181154943 181155890 + 6480464 12213199;14983052 285659 Q96R30 AB065675;ABBA01010093;AC008620;AF399614;AMYH02012917;BK004246;CH471165;CS248284;NM_206880 AAK95099;BAC05900;CAJ56665;DAA04644;EAW53721;NP_996763;Q96R30 Hs.553681 2106561 OR2V2__6017 OR2V3;OST713 OTTHUMP00000161541;olfactory receptor 2V2;olfactory receptor 2V3;olfactory receptor OR5-3;olfactory receptor, family 2, subfamily V, member 3 APPROVED protein-coding ENSG00000182613 HGNC:15341 14956 PROVISIONAL 1349463 OR2R1P olfactory receptor, family 2, subfamily R, member 1, pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138022587 138023936 - 143185555 143186502 - 143488462 143489409 - 12213199 392132 AB065481;ABBA01034137;AC073264;AF399457;AMYH02016936;CH236959;NG_004373 OR2R1;OST058 APPROVED pseudo HGNC:8274 INFERRED 1348465 OR2W1 olfactory receptor, family 2, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30618100 30619062 - 29011990 29012952 - 29044213 29045175 - 1580863;6480464;8554872 12213199;12477932;14574404;14983052;15489334;19460752;19851445;21832049;24047820 26692 Q9Y3N9 ABBA01038029;AF399628;AJ302594;AJ302595;AJ302596;AJ302597;AJ302598;AJ302599;AJ302600;AJ302601;AJ302602;AJ302603;AL035402;AL662791;AL662865;AL929561;AMYH02013406;BC103870;BC103871;BC103872;BK004522;BX248413;BX927167;CH471081;CR759835;CR759957;CR936923;NM_030903 AAI03871;AAI03872;AAI03873;AAK95113;CAB42853;CAC20514;CAC20515;CAC20516;CAC20517;CAC20518;CAC20519;CAC20520;CAC20521;CAC20522;CAC20523;DAA04920;EAX03179;EAX03180;EAX03181;NP_112165;Q9Y3N9 Hs.553526 2219306;5493047 OR2W1__6018;UniSTS:484051 MGC119162;MGC119163;MGC119165;hs6M1-15 OTTHUMP00000029054;olfactory receptor 2W1;olfactory receptor OR6-13 APPROVED protein-coding ENSG00000204704 HGNC:8281 17713 VALIDATED 1343372 OR2W3 olfactory receptor, family 2, subfamily W, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221344454 221345398 + 248058889 248059833 + 247895587 247896531 + 1580863;6480464 12213199;12477932;14983052;8889549 343171 Q7Z3T1 AB065949;ABBA01031794;AC099571;AF399491;AMYH02003144;BC146848;BK004456;CH471148;NM_001001957 AAI46849;ACE86601;ACE87282;BAC06162;DAA04854;EAW77207;NP_001001957;Q7Z3T1 Hs.269151 OR2W3P;OR2W8P;OST718 OTTHUMP00000038055;olfactory receptor 2W3;olfactory receptor 2W8;olfactory receptor OR1-49;olfactory receptor, family 2, subfamily W, member 3 pseudogene;olfactory receptor, family 2, subfamily W, member 8 pseudogene APPROVED protein-coding ENSG00000238243 HGNC:15021 17714 PROVISIONAL 1343741 OR2W4P olfactory receptor, family 2, subfamily W, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29550969 29551891 + 27944929 27945851 + 27977151 27978073 + 81407 ABBA01038012;AL133267;AMYH02013391;NG_004261 APPROVED pseudo HGNC:15071 INFERRED 1351652 OR2W5 olfactory receptor, family 2, subfamily W, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene has a coding sequence that is comparable in length to other olfactory receptor genes, but it should be noted that a frameshift is present in the 3' coding region that disrupts the 7-transmembrane domain structure in the protein. It is unclear if the protein can function as an olfactory receptor or if an alternate function is served. For this reason, this gene has also been interpreted to be a pseudogene. [provided by RefSeq, Jan 2010] 1 1 1 q44 220953148 220954489 + 247654370 247655711 + 247491068 247492409 + 6480464;8554872 12213199;12477932;15489334;16710414 441932 A6NFC9 AA568210;ABBA01031788;AF399492;AL606804;AMYH02003134;BC137203;BC137204;NM_001004698 A6NFC9;AAI37204;AAI37205;NP_001004698 Hs.591526 OR2W5P;OST722 olfactory receptor 2W5;olfactory receptor, family 2, subfamily W, member 5 pseudogene;putative olfactory receptor 2W5 APPROVED protein-coding HGNC:15424 17715 VALIDATED 1347514 OR2X1P olfactory receptor, family 2, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221387944 221388688 + 248102374 248103118 + 247939072 247939816 + 403245 ABBA01031794;AC099571;AMYH02003144;NG_004412 APPROVED pseudo HGNC:31258 INFERRED 1605397 OR2V1 olfactory receptor, family 2, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 176178241 176179185 - 180551339 180556557 - 181124357 181125304 - 6480464 26693 Q8NHB1 AB065465;ABBA01010093;AC008620;AMYH02012917;NM_001258283 BAC05724;NP_001245212;Q8NHB1 Hs.742585 OR2V1P;OST265 olfactory receptor 2V1;olfactory receptor, family 2, subfamily V, member 1 pseudogene APPROVED protein-coding ENSG00000185372 HGNC:8280 VALIDATED 1351833 OR2T4 olfactory receptor, family 2, subfamily T, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221809401 221810446 + 248524883 248525929 + 248361581 248362627 + 1580863;6480464;8554872 14983052 127074 Q8NH00 AB065615;ABBA01031799;AC138089;AMYH02003148;BK004464;CH471148;NM_001004696 BAC05842;DAA04862;EAW77224;NP_001004696;Q8NH00 Hs.553586 OR1-60;OR2T4Q OTTHUMP00000038271;olfactory receptor 2T4;olfactory receptor OR1-60 APPROVED protein-coding ENSG00000196944 HGNC:15016 14955 PROVISIONAL 1606719 OR2Y1 olfactory receptor, family 2, subfamily Y, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 175790024 175790959 - 180166123 180167058 - 180739123 180740058 - 6480464 12213199;12477932;14983052 134083 Q8NGV0 AB065676;ABBA01010081;AC023255;AC113427;AF399629;AMYH02012913;BC140756;BK004351;CH471165;NM_001001657 AAI40757;AAK95114;BAC05901;DAA04749;EAW53748;NP_001001657;Q8NGV0 Hs.554719 2219308 OR2Y1__6019 OR5-2 OTTHUMP00000221656;olfactory receptor 2Y1;olfactory receptor OR5-2 APPROVED protein-coding ENSG00000174339 HGNC:14837 17716 PROVISIONAL 1347587 OR2Z1 olfactory receptor, family 2, subfamily Z, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 8660485 8661429 + 8841391 8842335 + 8730954 8732009 + 1580863;6480464;8554872 12213199;12477932;14983052;18391951 284383 Q8NG97 AB065930;ABBA01016837;AC012616;AC243312;AF399619;AMYH02035447;BC137046;BC151149;BK004262;CH471139;CS248148;NM_001004699 AAI37047;AAI51150;AAK95104;BAC06145;CAJ56601;DAA04660;EAW68902;NP_001004699;Q8NG97 Hs.553675 OR19-4;OR2Z2 olfactory receptor 2Z1;olfactory receptor 2Z2;olfactory receptor OR19-4;olfactory receptor, family 2, subfamily Z, member 2 APPROVED protein-coding ENSG00000181733 HGNC:15391 17717 VALIDATED 1349332 OR2W6P olfactory receptor, family 2, subfamily W, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29511218 29512215 + 27905182 27906179 + 27937404 27938401 + 81406 Q8NHA6 AB065475;ABBA01038012;AL133267;AMYH02013391;CH471081;NG_004260 BAC05729;EAX03126;Q8NHA6 1662633;2189665 AL021850;D6S2224 OR2W7P APPROVED pseudo HGNC:15072 INFERRED 1347194 OR3A1 olfactory receptor, family 3, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3208656 3209603 - 3194929 3195876 - 3291635 3292582 - 1580863;6480464 10673334;12477932;14983052;15489334;16980412;17579849;23958962;8004088;8647456;8921386 4994 P47881 ABBA01054735;AC087498;AF087924;AMYH02032795;BC069414;BC096187;BC096188;BC096189;BC096190;BK004238;CH471108;NM_002550;U04683;U04684;X80391 AAA18347;AAA18348;AAF37314;AAH69414;AAH96187;AAH96188;AAH96189;AAH96190;CAA56602;DAA04636;EAW90518;NP_002541;P47881 Hs.647410 5092480;5492473 G54322;UniSTS:481224 OLFRA03;OR17-40;OR17-82;OR40 OTTHUMP00000115801;olfactory receptor 17-40;olfactory receptor 3A1;olfactory receptor OR17-15 APPROVED protein-coding ENSG00000180090 HGNC:8282 10131 VALIDATED 1350655 OR3A2 olfactory receptor, family 3, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3194908 3195992 - 3181184 3182268 - 3277890 3278974 - 1580863;6480464;8554872 10673334;12477932;14983052;15174051;23958962;8004088;8921386;9500546 4995 O43879;P47893 ABBA01054735;AC087498;AF087930;AMYH02032795;BC095517;BK004239;CH471108;NM_002551;U04713;U86244 AAA17448;AAC39624;AAF37318;AAH95517;DAA04637;EAW90516;NP_002542;P47893 Hs.647414 2107465 OR3A2__7150 OLFRA04;OR17-14;OR17-228;OR228 olfactory receptor 17-228;olfactory receptor 3A2;olfactory receptor OR17-14 APPROVED protein-coding ENSG00000221882 HGNC:8283 10132 VALIDATED 1352129 OR3B1P olfactory receptor, family 3, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q28 154045088 154046016 - 153887007 153887935 - 154658733 154659661 - 11410370;11709543 392561 ABBA01029067;AC244107;AF277315;NG_004382 1813382;1820276;1823420;2038282;2038284;2038286;2038288;2038290;2038292;2038294;2038296;2038298;2038300;2038302;2038304;2038306;2038308;2102784;2102786 ECD07712;ECD11212;ECD12801;REN90160;REN90161;REN90162;REN90163;REN90164;REN90165;REN90166;REN90167;REN90168;REN90169;REN90170;REN90171;REN90172;REN90173;stSG604218;stSG604219 APPROVED pseudo HGNC:14839 INFERRED 5684450 OR3A5P olfactory receptor, family 3, subfamily A, member 5 pseudogene 17 17 p13.3 3214494 3215186 + 3311200 3311892 + 8921386 100856809 ABBA01054735;AC087498;AMYH02032795;NG_031881 OLFRA06;OR17-25;OR25 pseudo HGNC:8286 INFERRED 1349592 OR3A4P olfactory receptor, family 3, subfamily A, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is transcribed and contains an intact ORF, but it is predicted to be a pseudogene due to a poorly conserved 7-transmembrane domain structure. [provided by RefSeq, Sep 2008] 17 17 17 p13.3 3227270 3228471 + 3213539 3214740 + 3310245 3311446 + 10673334;12213199;12477932;14983052;16939646;8004088;8921386 390756 P47883 ABBA01054735;AC002085;AC007194;AC023106;AC087498;AF087920;AF087921;AF399621;AMYH02032795;BC136874;BC136875;BK004695;BK004725;CH471108;NR_024128;U04680;U58675 AAA18344;AAK95106;EAW90517 Hs.632245 OLFRA05;OLFRA06;OR17-13;OR17-16;OR17-24;OR17-25;OR24;OR25;OR3A4;OR3A5P APPROVED pseudo ENSG00000279517 HGNC:15510 14957 VALIDATED 1604133 OR3D1P olfactory receptor, family 3, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221128988 221129923 + 247830184 247831119 + 247666882 247667817 + 504175 ABBA01031788;AL390860;AMYH02003136;NG_004862 APPROVED pseudo HGNC:25339 INFERRED 1352676 OR3A3 olfactory receptor, family 3, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3337601 3338566 + 3323862 3324827 + 3420568 3421533 + 1580863;6480464 10673334;12213199;12477932;12644552;14983052;16625196;20379614;8004088;9500546 8392 O43880;P47888 ABBA01054737;AC025125;AF087926;AF095725;AF399620;AMYH02032798;BC069415;BC108921;BK004236;CH471108;NM_012373;U04688;U76377;U78308;U86243;U86245 AAA18351;AAC39623;AAC39625;AAD00250;AAD00277;AAF03262;AAF37316;AAH69415;AAI08922;AAK95105;DAA04634;EAW90514;NP_036505;P47888 Hs.532689 5492371;5492581 Olfr399;UniSTS:481718 OR17-137;OR17-16;OR17-201;OR3A6;OR3A7;OR3A8P OTTHUMP00000115808;olfactory receptor 17-201;olfactory receptor 3A3;olfactory receptor 3A6;olfactory receptor 3A7;olfactory receptor 3A8;olfactory receptor OR17-22;olfactory receptor, family 3, subfamily A, member 6;olfactory receptor, family 3, subfamily A, member 7;olfactory receptor, family 3, subfamily A, member 8 pseudogene APPROVED protein-coding ENSG00000159961 HGNC:8284 11413 VALIDATED 1347633 OR4A10P olfactory receptor, family 4, subfamily A, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52542837 52543247 + 55199434 55199844 + 55431958 55432368 + 390138 ABBA01021457;AMYH02024821;AP005639;NG_004334 OR4A25P APPROVED pseudo HGNC:15147 INFERRED 1343682 OR4A12P olfactory receptor, family 4, subfamily A, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52436680 52437624 + 55093233 55094177 + 55325757 55326701 + 81331 ABBA01021456;AMYH02024820;AP005639;NG_004243 APPROVED pseudo HGNC:15149 INFERRED 1606645 OR4A11P olfactory receptor, family 4, subfamily A, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52429484 52430401 + 55086037 55086954 + 55318561 55319478 + 390136 ABBA01021456;AMYH02024820;AP005639;NG_004332 APPROVED pseudo HGNC:15148 INFERRED 1343479 OR4A14P olfactory receptor, family 4, subfamily A, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52588420 52589378 + 55245028 55245986 + 55477552 55478510 + 81329 ABBA01021457;AMYH02024821;AP005639;NG_004241 APPROVED pseudo HGNC:15151 INFERRED 1348504 OR4A15 olfactory receptor, family 4, subfamily A, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52478730 52479764 + 55135360 55136394 + 55367884 55368918 + 1580863;6480464;8554872 12213199;14983052;21408207 81328 Q8NGL6 AB065776;ABBA01021457;AF399578;AMYH02024820;AP005639;BK004248;CH471076;NM_001005275 AAK95063;BAC05996;DAA04646;EAW73673;NP_001005275;Q8NGL6 Hs.554529 OR11-118 OTTHUMP00000234034;olfactory receptor 4A15;olfactory receptor OR11-118 APPROVED protein-coding ENSG00000181958 HGNC:15152 14958 PROVISIONAL 1344335 OR4A16 olfactory receptor, family 4, subfamily A, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52454042 52455028 + 55110677 55111663 + 55343201 55344187 + 1580863;6480464;8554872 12477932;14983052 81327 Q8NH70 AB065519;ABBA01021457;AMYH02024820;AP005639;BC140748;BK004249;CH471076;NM_001005274 AAI40749;BAC05767;DAA04647;EAW73672;NP_001005274;Q8NH70 Hs.554530 OR11-117;OR4A16Q OTTHUMP00000234033;olfactory receptor 4A16;olfactory receptor OR11-117 APPROVED protein-coding ENSG00000181961 HGNC:15153 14959 PROVISIONAL 1348979 OR4A18P olfactory receptor, family 4, subfamily A, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50090245 50091332 - 49938942 49940029 - 49917390 49918477 - 81325 ABBA01060662;AC110057;AMYH02024766;AP006587;NG_004240 APPROVED pseudo HGNC:15155 INFERRED 1347184 OR4A19P olfactory receptor, family 4, subfamily A, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50093166 50094268 - 49941863 49942965 - 49920311 49921413 - 81324 ABBA01060662;AC110057;AMYH02024766;AP006587;NG_004239 APPROVED pseudo HGNC:15156 INFERRED 1352559 OR4A1P olfactory receptor, family 4, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50071132 50072037 - 49919833 49920738 - 49898281 49899186 - 9787077 8596 ABBA01060664;AF065869;AMYH02024766;AP006587;NG_002173;U73642 OR11-30;OR4A20P APPROVED pseudo HGNC:8289 INFERRED 1342703 OR4A21P olfactory receptor, family 4, subfamily A, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52602025 52603014 + 55258633 55259622 + 55491157 55492146 + 81322 ABBA01021457;AMYH02024822;AP001998;NG_004238 APPROVED pseudo HGNC:15158 INFERRED 1352952 OR4A2P olfactory receptor, family 4, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51778501 51780580 + 51451069 51451981 - 54667299 54668211 + 390133 ABBA01021445;AC126345;AMYH02024786;NG_004330 APPROVED pseudo HGNC:15159 INFERRED 1343490 OR4A3P olfactory receptor, family 4, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51773783 51774653 + 51455829 51456699 - 54662581 54663451 + 81320 ABBA01021445;AC126345;AMYH02024786;NG_004237 APPROVED pseudo HGNC:15160 INFERRED 1351538 OR4A40P olfactory receptor, family 4, subfamily A, member 40 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48684029 48684972 + 48533873 48534816 + 48512321 48513264 + 390116 ABBA01060678;AC134982;AMYH02024759;NG_004327 APPROVED pseudo HGNC:31259 INFERRED 1351624 OR4A42P olfactory receptor, family 4, subfamily A, member 42 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48778094 48779027 + 48631616 48632549 + 48610064 48610997 + 403248 ABBA01060677;AC134982;AMYH02024759;NG_004414 APPROVED pseudo HGNC:31261 INFERRED 1353670 OR4A43P olfactory receptor, family 4, subfamily A, member 43 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48697773 48698683 + 48547617 48548527 + 48526065 48526975 + 390117 ABBA01060678;AC134982;AMYH02024759;NG_004328 1737967 D11S3572 APPROVED pseudo HGNC:31262 INFERRED 1342603 OR4A44P olfactory receptor, family 4, subfamily A, member 44 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48795370 48796350 + 48649033 48650013 + 48627481 48628461 + 403250 ABBA01060677;AC134982;AMYH02024759;NG_004415 APPROVED pseudo HGNC:31263 INFERRED 1351010 OR2W2P olfactory receptor, family 2, subfamily W, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29607733 29608680 + 28001693 28002640 + 28033915 28034862 + 81694 ABBA01038012;AL121944;AMYH02013391;NG_004279 hs6M1-30P APPROVED pseudo HGNC:13970 INFERRED 1353185 OR4A45P olfactory receptor, family 4, subfamily A, member 45 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p11.2 48600935 48602000 + 48579383 48580448 + 403251 ABBA01060677;AC134982;NG_004416 APPROVED pseudo HGNC:31264 INFERRED 1352595 OR4A46P olfactory receptor, family 4, subfamily A, member 46 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48668042 48668982 + 48517871 48518811 + 48496319 48497259 + 403252 ABBA01060679;AC134982;AMYH02024759;NG_004417 APPROVED pseudo HGNC:31265 INFERRED 1348461 OR4A48P olfactory receptor, family 4, subfamily A, member 48 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48663444 48664217 + 48513274 48514047 + 48491722 48492495 + 403254 ABBA01060679;AC134982;AMYH02024759;NG_004418 APPROVED pseudo HGNC:31267 INFERRED 1354456 OR4A49P olfactory receptor, family 4, subfamily A, member 49 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50087967 50088498 - 49936564 49937195 - 49915012 49915643 - 403255 ABBA01060662;AC110057;AMYH02024766;AP006587;NG_004419 APPROVED pseudo HGNC:31268 INFERRED 1342615 OR4A4P olfactory receptor, family 4, subfamily A, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51770869 51771798 + 51458684 51459613 - 54659667 54660596 + 6480464 12213199;14983052 390134 Q8NGN8 AB065752;ABBA01021445;AC126345;AMYH02024786;BK004379;CS248434;NG_004331 BAC05972;CAJ56737;DAA04777;Q8NGN8 OR4A4 APPROVED pseudo HGNC:15161 INFERRED 1351568 OR4A47 olfactory receptor, family 4, subfamily A, member 47 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48660527 48661456 + 48510345 48511274 + 48483466 48489774 + 6480464;8554872 12213199;12477932;14983052;16554811;24144296 403253 Q6IF82 ABBA01060679;AC134982;AMYH02024759;BC140738;BK004380;NM_001005512;XM_006718230 AAI40739;DAA04778;NP_001005512;Q6IF82;XP_006718293 Hs.554532 OR11-113 OTTHUMP00000233588;olfactory receptor 4A47;olfactory receptor OR11-113 APPROVED protein-coding ENSG00000237388 HGNC:31266 17718 VALIDATED 1348174 OR4A17P olfactory receptor, family 4, subfamily A, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52555305 52556208 + 55211912 55212815 + 55444436 55445339 + 390139 ABBA01021457;AMYH02024821;AP005639;NG_004335 OR4A22P APPROVED pseudo HGNC:15154 INFERRED 1343611 OR4A5 olfactory receptor, family 4, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51818032 51819102 + 51411378 51412448 - 54706832 54707902 + 1580863;6480464;8554872 12477932;14983052;16554811;20881960 81318 Q8NH83 AB065506;ABBA01021445;AC087377;AMYH02024786;BC140750;BK004378;CH471076;CS248436;NM_001005272 AAI40751;BAC05754;CAJ56738;DAA04776;EAW73669;NP_001005272;Q8NH83 Hs.554531 OR11-111 OTTHUMP00000234168;olfactory receptor 4A5;olfactory receptor OR11-111;seven transmembrane helix receptor APPROVED protein-coding ENSG00000221840 HGNC:15162 17719 VALIDATED 1349174 OR4A13P olfactory receptor, family 4, subfamily A, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52577638 52578579 + 55234248 55235189 + 55466772 55467713 + 81330 Q8NH17 AB065596;ABBA01021457;AMYH02024821;AP005639;NG_004242 BAC05824 1760931 SHGC-144845 APPROVED pseudo HGNC:15150 INFERRED 1353001 OR4A6P olfactory receptor, family 4, subfamily A, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51836045 51837014 + 51393463 51394432 - 54724848 54725817 + 390131 ABBA01021445;AC087377;AMYH02024786;NG_004329 1671693 D11S1093 APPROVED pseudo HGNC:15163 INFERRED 1345225 OR4A50P olfactory receptor, family 4, subfamily A, member 50 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52586811 52587297 + 55243420 55243905 + 55475944 55476429 + 403256 ABBA01021457;AMYH02024821;AP005639;NG_004420 1703566 SHGC-82772 APPROVED pseudo HGNC:31269 INFERRED 1349506 OR4A8 olfactory receptor, family 4, subfamily A, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51794076 51795020 + 51435460 51436404 - 54682876 54683820 + 6480464 12644552;12730696;14983052;16554811 81315 P0C604 ABBA01021445;AC087377;AMYH02024786;NG_004235 P0C604 OR4A8 APPROVED pseudo HGNC:15165 INFERRED 1353965 OR4A41P olfactory receptor, family 4, subfamily A, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48757741 48758683 + 48611292 48612243 + 48589740 48590691 + 403247 ABBA01060677;AC134982;AMYH02024759;NG_004413 APPROVED pseudo HGNC:31260 INFERRED 1350231 OR4A9P olfactory receptor, family 4, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52499379 52500322 + 55156006 55156949 + 55388530 55389473 + 390137 ABBA01021457;AMYH02024821;AP005639;NG_004333 APPROVED pseudo HGNC:15166 INFERRED 1348023 OR4A7P olfactory receptor, family 4, subfamily A, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51803651 51804560 + 51425920 51426829 - 54692451 54693360 + 81316 ABBA01021445;AC087377;AMYH02024786;NG_004236 1737967 D11S3572 APPROVED pseudo HGNC:15164 INFERRED 1352354 OR4B1 olfactory receptor, family 4, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48388533 48389462 + 48238362 48239291 + 48216810 48217739 + 1580863;6480464;8554872 12213199;14983052 119765 Q8NGF8 AB065848;ABBA01060679;AC026975;AF399579;AMYH02024757;BK004387;CH471064;CS248254;NM_001005470 AAK95064;BAC06066;CAJ56651;DAA04785;EAW67872;NP_001005470;Q8NGF8 Hs.553566 OR11-106;OST208 OTTHUMP00000233585;olfactory receptor 4B1;olfactory receptor OR11-106 APPROVED protein-coding ENSG00000175619 HGNC:8290 14960 PROVISIONAL 1350510 OR4C10P olfactory receptor, family 4, subfamily C, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48603906 48604836 - 48453769 48454699 - 48432217 48433147 - 79526 ABBA01060679;AC023080;AMYH02024759;AP002509;NG_002264 APPROVED pseudo HGNC:14800 INFERRED 1350665 OR4B2P olfactory receptor, family 4, subfamily B, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48398951 48399853 + 48248982 48249884 + 48227430 48228332 + 26690 ABBA01060679;AC026975;AMYH02024758;NG_004136 hg449 APPROVED pseudo HGNC:8291 INFERRED 1350996 OR4C12 olfactory receptor, family 4, subfamily C, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50154251 50155313 - 50003009 50004071 - 49981473 49982535 - 1580863;6480464;8554872 12213199;12477932;14983052 283093 Q8NH84;Q96R67 AB065505;ABBA01060662;AC110057;AF399576;AP006622;BC136850;BC136851;BK004413;CH471064;FP710250;NM_001005270 AAI36851;AAI36852;AAK95061;BAC05753;DAA04811;EAW67852;NP_001005270;Q96R67 Hs.553669 OR11-259 OTTHUMP00000234017;olfactory receptor 4C12;olfactory receptor OR11-259;seven transmembrane helix receptor APPROVED protein-coding ENSG00000221954 HGNC:15168 14962 VALIDATED 1350316 OR4C14P olfactory receptor, family 4, subfamily C, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52647869 52648791 + 55304479 55305401 + 55537003 55537925 + 81310 ABBA01021457;AMYH02024822;AP001998;NG_004234 APPROVED pseudo HGNC:15170 INFERRED 1342612 OR4C13 olfactory receptor, family 4, subfamily C, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50125204 50126232 + 49973943 49974971 + 49952391 49953419 + 1580863;6480464;8554872 12213199;12477932;14983052 283092 Q8NGP0 AB065750;ABBA01060662;AC110057;AF399575;AMYH02024766;AP006587;BC137005;BK004414;CH471064;NM_001001955 AAI37006;AAK95060;BAC05970;DAA04812;EAW67853;NP_001001955;Q8NGP0 Hs.553668 OTTHUMP00000234016;olfactory receptor 4C13;olfactory receptor OR11-260 APPROVED protein-coding ENSG00000258817 HGNC:15169 17720 VALIDATED 1354381 OR4C11 olfactory receptor, family 4, subfamily C, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52712746 52713678 - 55370830 55371874 - 55603354 55604398 - 6480464 12477932;14983052 219429 Q6IEV9 AB065774;ABBA01021457;AMYH02024824;AP006437;BC140727;BK004503;CH471076;NM_001004700 AAI40728;BAC05994;DAA04901;EAW73676;NP_001004700;Q6IEV9 Hs.553620 2107467 OR4C11__7151 OR11-136;OR4C11P OTTHUMP00000229273;olfactory receptor 4C11;olfactory receptor OR11-136;olfactory receptor, family 4, subfamily C, member 11 pseudogene APPROVED protein-coding ENSG00000172188 HGNC:15167 14961 VALIDATED 1347275 OR4C1P olfactory receptor, family 4, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52620506 52621630 + 55277114 55278238 + 55509638 55510762 + 6480464 1370859 26242 ABBA01021457;AC021304;AMYH02024822;AP001998;NG_002184;X64985 Hs.550274 HSHTPCRX11;HTPCRX11;OR4C1 APPROVED pseudo HGNC:8292 INFERRED 1352775 OR4C15 olfactory receptor, family 4, subfamily C, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 1261 2373 + 55321783 55322895 + 55554307 55555419 + 6480464;8554872 14983052 81309 Q8NGM1 AB065771;ABBA01021457;AMYH02024822;AP001998;BK004319;BK004320;CH471076;NM_001001920 BAC05991;DAA04717;DAA04718;EAW73674;NP_001001920;Q8NGM1 Hs.589003 OR11-127;OR11-134 OTTHUMP00000234035;olfactory receptor 4C15;olfactory receptor OR11-127;olfactory receptor OR11-134 APPROVED protein-coding ENSG00000181939 HGNC:15171 14963 PROVISIONAL 1349325 OR4C16 olfactory receptor, family 4, subfamily C, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52681430 52682362 + 55339604 55340536 + 55572128 55573060 + 1580863;6480464;8554872 14983052;16554811 219428 Q8NGL9 AB065773;ABBA01021457;AMYH02024823;AP001998;BK004504;CH471076;CS248152;NM_001004701 BAC05993;CAJ56603;DAA04902;EAW73675;NP_001004701;Q8NGL9 Hs.553619 OR11-135 OTTHUMP00000228885;olfactory receptor 4C16;olfactory receptor OR11-135 APPROVED protein-coding ENSG00000181935;ENSG00000279514 HGNC:15172 17721 VALIDATED 1353535 OR4C2P olfactory receptor, family 4, subfamily C, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48591732 48592768 + 48441595 48442631 + 48420043 48421079 + 14983052 119750 AB065547;AB065568;ABBA01060679;AC023080;AMYH02024759;BK004694;BK004807;NG_002250 OR4C8P APPROVED pseudo HGNC:14696 INFERRED 1346442 OR4C45 olfactory receptor, family 4, subfamily C, member 45 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p11.12 50205651 50206571 + 50032874 50033794 + 6480464;8554872 18674749;21502573 403257 A6NMZ5 ABBA01060662;AC023080;AC110057;FP710250;NM_001005513 A6NMZ5;AAI52968;AAI56622;NP_001005513 Hs.554533 olfactory receptor 4C45 APPROVED protein-coding HGNC:31270 17723 VALIDATED 1343294 OR4C46 olfactory receptor, family 4, subfamily C, member 46 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51706272 51715221 - 51515282 51516211 + 54603069 54603998 - 6480464 21822266;24097068 119749 A6NHA9 ABBA01021444;AC126345;AMYH02024786;NM_001004703 A6NHA9;NP_001004703 Hs.553564 OTTHUMP00000234032;olfactory receptor 4C46 APPROVED protein-coding ENSG00000185926 HGNC:31271 14964 614273 PROVISIONAL 1342934 OR4C3 olfactory receptor, family 4, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48496460 48497449 + 48346493 48347482 + 48324941 48325930 + 1580863;6480464;8554872 12477932;14983052 256144 Q8NH37 AB065567;ABBA01060679;AC023080;AMYH02024759;BC136853;BC136854;BK004349;CH471064;NM_001004702 AAI36854;AAI36855;BAC05803;DAA04747;EAW67868;NP_001004702;Q8NH37 Hs.553656 OR11-98 OTTHUMP00000233587;olfactory receptor 4C3;olfactory receptor OR11-98 APPROVED protein-coding ENSG00000176547 HGNC:14697 17722 PROVISIONAL 1349390 OR4C48P olfactory receptor, family 4, subfamily C, member 48 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 50191563 50192487 + 50018789 50019713 + 403259 ABBA01060662;AC110057;FP710250;NG_004421 APPROVED pseudo HGNC:31272 INFERRED 1353434 OR4C4P olfactory receptor, family 4, subfamily C, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 48516830 48523979 - 48366900 48373999 - 48345348 48352447 - 14983052 79550 ABBA01060679;AC023080;AMYH02024759;BK004583;NG_002275 OR4C17;OR4C17P;OR4C47P APPROVED pseudo HGNC:14700 INFERRED 1351373 OR4C49P olfactory receptor, family 4, subfamily C, member 49 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 50226174 50227070 - 212303 213199 - 50053412 50054308 - 403260 ABBA01060662;AC110057;FP710250;NG_004422 APPROVED pseudo HGNC:31273 INFERRED 1348715 OR4C50P olfactory receptor, family 4, subfamily C, member 50 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51703352 51704278 + 51526874 51527800 - 54591480 54592406 + 256190 ABBA01021444;AC126345;AMYH02024786;NG_004295 APPROVED pseudo HGNC:31274 INFERRED 1350174 OR4C9P olfactory receptor, family 4, subfamily C, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48635772 48636696 - 48485605 48486529 - 48464053 48464977 - 79530 ABBA01060679;AC134982;AMYH02024759;AP002509;NG_002267 APPROVED pseudo HGNC:14796 INFERRED 1353782 OR4C7P olfactory receptor, family 4, subfamily C, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51746131 51747255 - 51483227 51484351 + 54634929 54636053 - 79294 ABBA01021445;AC126345;AMYH02024786;AP002491;NG_002229 APPROVED pseudo HGNC:14768 INFERRED 1345291 OR4C6 olfactory receptor, family 4, subfamily C, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52774494 52775423 + 55432643 55433572 + 55665167 55666096 + 1580863;6480464;8554872 12477932;14983052 219432 Q8NH72 AB065517;ABBA01021457;AC022289;AMYH02024826;AP006437;BC137216;BC137218;BK004330;CH471076;CS248114;NM_001004704 AAI37217;AAI37219;BAC05765;CAJ56584;DAA04728;EAW73679;NP_001004704;Q8NH72 Hs.511921 1750385;1751117 SHGC-104959;SHGC-112568 OR11-138 OTTHUMP00000234201;olfactory receptor 4C6;olfactory receptor OR11-138 APPROVED protein-coding ENSG00000181903 HGNC:14743 17724 PROVISIONAL 1348576 OR4D10 olfactory receptor, family 4, subfamily D, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56606185 56607120 + 59244903 59245838 + 59477430 59478365 + 1580863;6480464;8554872 12213199;12477932;12644552;14983052 390197 Q8NGI5;Q8NGI6 AB065808;AB065809;ABBA01021501;AF399442;AF546476;AMYH02024863;AP003778;BC136893;BC136894;BK004311;CH471076;CS248280;NM_001004705 AAI36894;AAI36895;BAC06027;BAC06028;CAJ56663;DAA04709;EAW73846;NP_001004705;Q8NGI6 Hs.553756 OR11-251;OR4D10P;OST711 OTTHUMP00000235747;olfactory receptor 4D10;olfactory receptor OR11-251;olfactory receptor, family 4, subfamily D, member 10 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000254466 HGNC:15173 14966 PROVISIONAL 1349155 OR4D12P olfactory receptor, family 4, subfamily D, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 4026172 4026693 - 4128333 4129357 - 4126606 4127630 - 9847074 282754 ABBA01008238;AC011744;AMYH02008640;NG_004296 OR7E103P APPROVED pseudo ENSG00000198787 HGNC:19587 INFERRED 1351925 OR4D11 olfactory receptor, family 4, subfamily D, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56632331 56633266 + 59271049 59271984 + 59503576 59504511 + 1580863;6480464;8554872 12213199;14983052 219986 Q8NGI4 AB065810;ABBA01021501;AF399440;AMYH02024863;AP003778;BK004688;CH471076;NM_001004706 BAC06029;EAW73847;NP_001004706;Q8NGI4 Hs.553651 2219310 OR4D11__6029 OR4D11P OTTHUMP00000235748;olfactory receptor 4D11;olfactory receptor OR11-252 pseudogene;olfactory receptor, family 4, subfamily D, member 11 pseudogene APPROVED protein-coding ENSG00000176200 HGNC:15174 17725 PROVISIONAL 1344303 OR4D2 olfactory receptor, family 4, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 q22 52708796 52709719 + 56247017 56247940 + 58169656 58170579 + 6480464 12213199;14983052;16625196 124538 P58180 AB065912;ABBA01041328;AC005962;AF303373;AF399568;AMYH02033686;BK004224;CH471109;NM_001004707 AAI41569;AAI46584;AAK95053;AAL26785;BAC06127;DAA04622;EAW94481;NP_001004707;P58180 Hs.446879 BC2009;OR17-24 B-lymphocyte membrane protein BC2009;G-protein coupled membrane protein;olfactory receptor 4D2;olfactory receptor OR17-24 APPROVED protein-coding ENSG00000255713 HGNC:8294 14967 PROVISIONAL 1343066 OR4D5 olfactory receptor, family 4, subfamily D, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120969505 120970461 + 123810324 123811280 + 123939617 123940573 + 1580863;6480464;8554872 12477932;14983052 219875 Q8NGN0 AB065760;ABBA01031265;AMYH02025719;AP002407;BC136943;BC136945;BK004316;CH471065;CS248096;NM_001001965 AAI36944;AAI36946;BAC05980;CAJ56575;DAA04714;EAW67561;NP_001001965;Q8NGN0 Hs.553639 2219312 OR4D5__6031 OR11-276 OTTHUMP00000231614;olfactory receptor 4D5;olfactory receptor OR11-276 APPROVED protein-coding ENSG00000171014 HGNC:14852 17726 PROVISIONAL 1345921 OR4D6 olfactory receptor, family 4, subfamily D, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56585714 56586658 + 59224434 59225378 + 59456961 59457905 + 1580863;6480464;8554872 12213199;12477932;14983052;21832049;23910658 219983 Q8NGJ1 AB065803;ABBA01021501;AF399569;AMYH02024863;AP003778;BC137028;BC137029;BK004307;CH471076;CS248282;NM_001004708 AAI37029;AAI37030;AAK95054;BAC06022;CAJ56664;DAA04705;EAW73845;NP_001004708;Q8NGJ1 Hs.553650 2107469 OR4D6__7140 OR11-250 OTTHUMP00000235746;olfactory receptor 4D6;olfactory receptor OR11-250 APPROVED protein-coding ENSG00000166884 HGNC:15175 17727 PROVISIONAL 1344452 OR4D7P olfactory receptor, family 4, subfamily D, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56661833 56662846 + 59299171 59300184 + 59531698 59532711 + 81304 ABBA01021502;AMYH02024864;AP003778;NG_004233 OST724 APPROVED pseudo HGNC:15176 INFERRED 1350642 OR4D8P olfactory receptor, family 4, subfamily D, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56620408 56621366 + 59259126 59260084 + 59491653 59492611 + 12213199;14983052 401696 AB065809;ABBA01021501;AF399441;AMYH02024863;AP003778;BK004568;NG_004232 APPROVED pseudo HGNC:15177 INFERRED 1606644 OR4D9 olfactory receptor, family 4, subfamily D, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56645048 56645992 + 59282386 59283330 + 59514913 59515857 + 6480464 14983052;16554811 390199 Q8NGE8 AB065861;ABBA01021501;AMYH02024863;AP003778;BK004309;CH471076;NM_001004711 BAC06079;DAA04707;EAW73848;NP_001004711;Q8NGE8 Hs.553757 2219314 OR4D9__6033 OR11-253 OTTHUMP00000235749;olfactory receptor 4D9;olfactory receptor OR11-253;olfactory receptor, family 4, subfamily D, member 9 pseudogene APPROVED protein-coding ENSG00000172742 HGNC:15178 17728 PROVISIONAL 1352705 OR4E2 olfactory receptor, family 4, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1996670 1997611 + 22133297 22134238 + 21665083 21666024 + 1580863;6480464;8554872 12213199;14983052;8188290;9110172 26686 Q8NGC2 AB065895;ABBA01061265;AC243972;AE000521;AF399581;AY726598;BK004526;CH471078;NG_001332;NM_001001912 AAI46415;AAI48854;AAK95066;BAC06111;DAA04924;EAW66372;NP_001001912;Q8NGC2 Hs.547982 OR14-42 OTTHUMP00000239887;olfactory receptor 4E2;olfactory receptor OR14-42 APPROVED protein-coding ENSG00000221977 HGNC:8297 11414 VALIDATED 1343961 OR4F13P olfactory receptor, family 4, subfamily F, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 78811665 78812601 + 102382322 102390527 + 101842119 101850324 + 6480464 390651 AB065564;ABBA01020514;AC107977;AC246818;AY792621;NR_046417 AAY34251 Hs.578689 GPCRLTM7 APPROVED pseudo ENSG00000214344 HGNC:15076 VALIDATED 1351117 OR4F15 olfactory receptor, family 4, subfamily F, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 78781186 78782124 + 102358390 102359328 + 101818187 101819125 + 1580863;6480464 12213199;12477932;12908129;14983052 390649 Q86SI3;Q8NGB8 AB065900;ABBA01020514;AC107977;AC246818;AF399573;AY284005;AY284006;AY284007;AY284008;AY284009;AY284010;AY284011;AY284012;AY284013;AY284014;AY284015;AY284016;AY284017;AY284018;AY284019;AY284020;AY284021;AY284022;AY284023;AY284024;AY284025;AY284026;AY284027;AY284028;AY284029;AY284030;AY284031;AY284032;AY284033;AY284034;AY284035;AY284036;BC137064;BC137065;BK004405;CH471101;NM_001001674 AAI37065;AAI37066;AAK95058;AAP32511;AAP32512;AAP32513;AAP32514;AAP32515;AAP32516;AAP32517;AAP32518;AAP32519;AAP32520;AAP32521;AAP32522;AAP32523;AAP32524;AAP32525;AAP32526;AAP32527;AAP32528;AAP32529;AAP32530;AAP32531;AAP32532;AAP32533;AAP32534;AAP32535;AAP32536;AAP32537;AAP32538;AAP32539;AAP32540;AAP32541;AAP32542;BAC06116;DAA04803;EAX02320;NP_001001674;Q8NGB8 Hs.554589 2106563 OR4F15__6034 olfactory receptor 4F15;olfactory receptor OR15-14 APPROVED protein-coding ENSG00000182854 HGNC:15078 14968 PROVISIONAL 1349131 OR4F16 olfactory receptor, family 4, subfamily F, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 p36.33 1327 2264 - 621096 622034 - 685716 686654 - 6480464 14983052;16710414 81399 Q6IEY1 AC114498;AMYH02000063;BC137547;BC137568;BK004481;NM_001005277 AAI37548;AAI37569;DAA04879;NP_001005277;Q6IEY1 Hs.632360 OR1-1;OR4F29;OR4F3;OR7-21 H_DJ0855D21.1;OTTHUMP00000002675;WUGSC:H_DJ0855D21.1;olfactory receptor 4F3/4F16/4F29;olfactory receptor OR1-1;olfactory receptor OR4F16;olfactory receptor OR7-21 APPROVED protein-coding ENSG00000273547 HGNC:15079 14969 PROVISIONAL 1345738 OR4F17 olfactory receptor, family 4, subfamily F, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 701 1618 + 107152 111690 + 107152 111690 + 1580863;6480464 11689483;11689484;12477932;9384599 81099 Q8NGA8 AB065917;AC008977;AMYH02035080;AY972818;BC136848;BC136867;NM_001005240;XM_005259648 AAI36849;AAI36868;AAX86698;BAC06132;NP_001005240;Q8NGA8;XP_005259705 Hs.572591 OR4F11P;OR4F18;OR4F19 olfactory receptor 4F11;olfactory receptor 4F17;olfactory receptor 4F18;olfactory receptor 4F19;olfactory receptor, family 4, subfamily F, member 11 pseudogene;olfactory receptor, family 4, subfamily F, member 19 APPROVED protein-coding ENSG00000176695 HGNC:15381 14970 PROVISIONAL 1347170 OR4F1P olfactory receptor, family 4, subfamily F, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p25.3 1330 2264 - 105919 106856 - 105919 106856 - 9847074 26685 AL353654;AMYH02012954;NG_004134 HSDJ0609N19;OR4F1 APPROVED pseudo HGNC:8298 INFERRED 1345209 OR4C17P olfactory receptor, family 4, subfamily C, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11 11 q12.1 48523651 48523973 - 48373686 48374008 - 406873 AC023080;NG_004441 OR4C17;OR4C47P pseudo HGNC:19605 1354367 OR4F21 olfactory receptor, family 4, subfamily F, member 21 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p23.3 1327 2264 - 116086 117024 - 166086 167024 - 6480464 441308 O95013 AC004908;AC131281;AMYH02017211;NM_001005504 AAD05195;NP_001005504;O95013 Hs.690459 OR4F21P OTTHUMP00000225359;olfactory receptor 4F21;olfactory receptor, family 4, subfamily F, member 21 pseudogene APPROVED protein-coding ENSG00000176269 HGNC:19583 17729 PROVISIONAL 1348924 OR4F28P olfactory receptor, family 4, subfamily F, member 28 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 1330 2264 - 102416167 102417104 + 101875964 101876901 + 390652 AC107977;AC246818;NG_004358 APPROVED pseudo HGNC:31229 INFERRED 1344305 OR4F29 olfactory receptor, family 4, subfamily F, member 29 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 p36.33 1327 2264 - 367659 368597 + 450740 451678 - 6480464 14983052;16710414 729759 Q6IEY1;Q8NGN9 AL732372;AMYH02035093;BC137547;BC137568;NM_001005221 AAI37548;AAI37569;NP_001005221;Q6IEY1 Hs.632360;Hs.722724 OR4F16;OR4F3;OR7-21 H_DJ0855D21.1;OTTHUMP00000002885;olfactory receptor 4F3/4F16/4F29;olfactory receptor OR1-1;olfactory receptor OR7-21;seven transmembrane helix receptor APPROVED protein-coding ENSG00000278566 HGNC:31275 14971 VALIDATED 1353934 OR4C5 olfactory receptor, family 4, subfamily C, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48537072 48538063 - 48386949 48387940 - 48365397 48366388 - 6480464 14983052 79346 Q8NGB2 ABBA01060679;AC023080;AMYH02024759;NG_002247 Q8NGB2 OR4C5P;OR4C5Q APPROVED pseudo HGNC:14702 INFERRED 1605190 OR4F14P olfactory receptor, family 4, subfamily F, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 78791740 78792675 + 102368944 102369879 + 101828741 101829676 + 390650 AB065901;ABBA01020514;AC107977;AC246818;NG_004356 BAC06117 OR4F14 APPROVED pseudo HGNC:15077 INFERRED 1353024 OR4F3 olfactory receptor, family 4, subfamily F, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 1327 2264 - 180794288 180795226 + 181367287 181368225 + 6480464 12477932;14983052 26683 Q6IEY1;Q6IFP3 AC138030;AC139237;BC137547;BC137568;BK004219;NM_001005224 AAI37548;AAI37569;DAA04617;NP_001005224;Q6IEY1 Hs.632360;Hs.722724 OR4F16;OR4F29 OTTHUMP00000221203;olfactory receptor 4F3/4F16/4F29;olfactory receptor OR1-1;olfactory receptor OR7-21 APPROVED protein-coding ENSG00000230178 HGNC:8300 14972 PROVISIONAL 1346395 OR4F5 olfactory receptor, family 4, subfamily F, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 p36.33 701 1618 + 69091 70008 + 69091 70008 + 1580863;6480464 16710414 79501 Q8NH21 AB065592;ABBA01178260;AL627309;AMYH02000013;NM_001005484 BAC05820;NP_001005484;Q8NH21 Hs.554500 OTTHUMP00000001248;olfactory receptor 4F5 APPROVED protein-coding ENSG00000186092 HGNC:14825 14974 PROVISIONAL 1354132 OR4F2P olfactory receptor, family 4, subfamily F, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p15.5 86649 87586 - 86649 87586 - 390028 ABBA01168384;AC069287;NG_004259 HS191N21;OR4F2;S191N21;hs6M1-11 APPROVED pseudo HGNC:8299 INFERRED 1605029 OR4F7P olfactory receptor, family 4, subfamily F, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 q27 1342 2264 - 170948694 170949631 + 170639606 170640543 + 9847074 81390 AL031259;AMYH02015015;NG_004682 OR4F10 APPROVED pseudo HGNC:15089 INFERRED 1343983 OR4F6 olfactory receptor, family 4, subfamily F, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 78768718 78769656 + 102345923 102346861 + 101805720 101806658 + 1580863;6480464 10358071;10488142;12477932;12507995;14983052 390648 Q8NGB9 AB065899;ABBA01020514;AC107977;AC246818;BC137002;BC137003;BK004367;CH471101;CS248262;NM_001005326 AAI37003;AAI37004;BAC06115;CAJ56655;DAA04765;EAX02319;NP_001005326;Q8NGB9 Hs.553399 OR15-15;OR4F12 olfactory receptor 4F12;olfactory receptor 4F6;olfactory receptor OR15-15;olfactory receptor, family 4, subfamily F, member 12 APPROVED protein-coding ENSG00000184140 HGNC:15372 11415 PROVISIONAL 1344385 OR4E1 olfactory receptor, family 4, subfamily E, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 2001656 2002800 - 22138104 22139250 - 21669891 21671035 - 6480464 12213199;14983052;17973576;8188290;9110172 26687 P0C645 AB065562;ABBA01061265;AC243972;AE000658;AF399450;BK004671;NG_001332 P0C645 OR4E1P APPROVED pseudo HGNC:8296 REVIEWED 1354219 OR4G11P olfactory receptor, family 4, subfamily G, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 p36.33 63016 63885 + 63016 63885 + 403263 AL627309;AMYH02000011;NG_004423 APPROVED pseudo HGNC:31276 INFERRED 1350427 OR4F4 olfactory receptor, family 4, subfamily F, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q26.3 102462345 102463262 - 101922142 101923059 - 1580863;6480464 11689483;11689484;12213199;12477932;14983052;9384599 26682 Q52R94;Q96R69 AC140725;AC244668;AF270636;AF399574;AY972817;AY972819;BC136907;BC136908;BK004223;NM_001004195 AAI36908;AAI36909;AAK95059;AAX86697;AAX86699;DAA04621;NP_001004195;Q96R69 Hs.554420 HS14a-1-A;OLA-7501;OR4F17;OR4F18 olfactory receptor 4F4;olfactory receptor OR19-3;olfactory receptor, family 4, subfamily F, member 18 APPROVED protein-coding ENSG00000177693 HGNC:8301 14973 PROVISIONAL 1344483 OR4F8P olfactory receptor, family 4, subfamily F, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1330 2264 - 156282 157216 - 156282 157216 - 390872 AC010509;AC016626;AMYH02035093;NG_004359 OR4F20P;OR4F9P APPROVED pseudo HGNC:15395 INFERRED 1351007 OR4G1P olfactory receptor, family 4, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 p13.3 104602 105470 + 104602 105470 + 9384599 26681 ABBA01158049;AC005605;AC008977;AMYH02035080;NG_004133 OLB;OR4G8P APPROVED pseudo HGNC:8302 INFERRED 1352059 OR4G4P olfactory receptor, family 4, subfamily G, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 p36.33 409 1352 + 52453 53396 + 52453 53396 + 79504 ABBA01172146;AL627309;NG_004148 APPROVED pseudo HGNC:14822 INFERRED 1353858 OR4G3P olfactory receptor, family 4, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 p13.3 94077 94940 + 94077 94940 + 9384599 26679 AC008993;AMYH02035080;L78442;NG_003222 OLC;OLC-7501;OR4G3;OR4G5P APPROVED pseudo HGNC:8304 INFERRED 1346867 OR4D1 olfactory receptor, family 4, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 q23.2 52694294 52695226 + 56232515 56233447 + 58155154 58156086 + 633349;1580863;6480464 9119360 12213199;12477932;14983052;20379614 26689 Q15615;Q8NH96 AB065489;AB065913;ABBA01041327;AC005962;AF399567;AMYH02033685;BC136589;BC136595;BK004544;CH471109;NM_012374;X89670 AAI36590;AAI36596;AAK95052;BAC05741;BAC06128;CAA61817;EAW94482;NP_036506;Q15615 Hs.531188 OR17-23;OR4D3;OR4D4P;TPCR16 olfactory receptor 4D1;olfactory receptor 4D3;olfactory receptor OR17-23 pseudogene;olfactory receptor TPCR16;olfactory receptor, family 4, subfamily D, member 3;olfactory receptor, family 4, subfamily D, member 4 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000141194 HGNC:8293 14965 PROVISIONAL 1348007 OR4H12P olfactory receptor, family 4, subfamily H, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 93519 94397 + 20228069 20228947 + 19759910 19760788 + 14983052 161271 Q6IEX5 AB065963;ABBA01061213;AL512310;AMYH02028810;BK004487;NG_004089 BAC06175 C14orf14;OR4H12;c14_5009 APPROVED pseudo HGNC:19433 INFERRED 1348052 OR4H8P olfactory receptor, family 4, subfamily H, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] q11.2 9500546 26320 AC134980;NG_002185;U86226 OR14-58;OR4H8 pseudo HGNC:8314 1344172 OR4H6P olfactory receptor, family 4, subfamily H, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 716 1352 + 22344854 22345489 + 22056903 22057538 + 12213199;9500546 26322 ABBA01017833;AC134980;AF399449;AMYH02030018;NG_002185;U86226;U86229;U86230;U86231;U86232;U86233;U86265;U86266;U86268;U86269;U86273 OR14-58;OR15-69;OR15-71;OR15-80;OR15-81;OR15-82;OR4-114;OR4-115;OR4-119;OR4H10;OR4H10P;OR4H11;OR4H11P;OR4H1P;OR4H2;OR4H2P;OR4H3;OR4H3P;OR4H4;OR4H4P;OR4H5;OR4H5P;OR4H6;OR4H7;OR4H7P;OR4H8;OR4H8P;OR4H9;OR4H9P;OR5-39;OR5-84 APPROVED pseudo HGNC:8312 INFERRED 1354408 OR4K12P olfactory receptor, family 4, subfamily K, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 18 21 21 q11.1 14692389 14693321 + 14953393 14954325 - 13581072 13582004 - 81078 AMYH02037514;AP001465;NG_004160 OR21-2 APPROVED pseudo HGNC:15403 INFERRED 1354130 OR4K1 olfactory receptor, family 4, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 269235 270310 + 20403767 20404842 + 19935608 19936683 + 1580863;6480464;8554872 12213199;12477932;14983052 79544 Q8NGD4 AB065879;AB065881;ABBA01061215;AC024399;AF399570;AL359218;AMYH02028811;BC151145;BK004356;CH471078;NM_001004063 AAI51146;AAK95055;BAC06097;BAC06099;DAA04754;EAW66494;NP_001004063;Q8NGD4 Hs.554584 OR14-19 OTTHUMP00000244157;olfactory receptor 4K1;olfactory receptor OR14-19 APPROVED protein-coding ENSG00000155249 HGNC:14726 14975 VALIDATED 1347325 OR4K14 olfactory receptor, family 4, subfamily K, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 347909 348841 - 20482420 20483352 - 20014261 20015193 - 1580863;6480464;8554872 12213199;14983052 122740 Q8NGD5 AB065880;ABBA01061218;AF399572;AL359218;AMYH02028813;BK004521;BK004816;CH471078;CS248428;NM_001004712 AAK95057;BAC06098;CAJ56734;DAA04919;EAW66490;NP_001004712;Q8NGD5 Hs.626814 OR14-18;OR14-22 OTTHUMP00000244391;olfactory receptor 4K14;olfactory receptor OR14-18 pseudogene;olfactory receptor OR14-22 APPROVED protein-coding ENSG00000169484 HGNC:15352 14977 PROVISIONAL 1604781 OR4G6P olfactory receptor, family 4, subfamily G, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q26 409 1352 + 102477752 102478695 - 101937549 101938492 - 14983052 81438 AC140725;AC244668;BK004536;NG_004268 OR11-302 APPROVED pseudo HGNC:15039 INFERRED 1348522 OR4G2P olfactory receptor, family 4, subfamily G, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q26 102466830 102467506 - 101926627 101927303 - 26680 AB065964;AC140725;AC244668;AF282024;NG_003201 OR4G7P APPROVED pseudo HGNC:8303 INFERRED 1351116 OR4K13 olfactory receptor, family 4, subfamily K, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 367499 368413 - 20502003 20502917 - 20033844 20034758 - 1580863;6480464 14983052 390433 Q8NH42 AB065559;ABBA01061218;AL359218;AMYH02028813;BK004449;CH471078;CS248338;NM_001004714 BAC05797;CAJ56862;DAA04847;EAW66489;NP_001004714;Q8NH42 Hs.553573 OR14-27 OTTHUMP00000244392;olfactory receptor 4K13;olfactory receptor OR14-27 APPROVED protein-coding ENSG00000176253 HGNC:15351 14976 PROVISIONAL 1351884 OR4K15 olfactory receptor, family 4, subfamily K, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 309182 310228 + 20443678 20444724 + 19975519 19976565 + 6480464;8554872 12477932;14983052 81127 Q8NH41 AB065560;ABBA01061215;AL359218;AMYH02028812;BC140726;BK004468;CH471078;NM_001005486 AAI40727;BAC05798;DAA04866;EAW66492;NP_001005486;Q8NH41 Hs.554583 OR14-20;OR4K15Q OTTHUMP00000244158;olfactory receptor 4K15;olfactory receptor OR14-20 APPROVED protein-coding ENSG00000169488 HGNC:15353 14978 PROVISIONAL 1347330 OR4K16P olfactory receptor, family 4, subfamily K, member 16 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 290214 291221 + 20424706 20425713 + 19956547 19957554 + 81126 ABBA01061215;AL359218;AMYH02028811;NG_004172 OR14-24 APPROVED pseudo HGNC:15354 INFERRED 1344296 OR4K4P olfactory receptor, family 4, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 239341 240273 + 20373871 20374803 + 19905712 19906644 + 79318 ABBA01061214;AC024399;AL391156;AMYH02028811;NG_002242 APPROVED pseudo HGNC:14744 INFERRED 1351442 OR4K2 olfactory receptor, family 4, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 209896 210840 + 20344427 20345371 + 19876268 19877212 + 1580863;6480464;8554872 12477932;14983052 390431 Q8NGD2 AB065883;ABBA01061213;AC024399;AL391156;AMYH02028811;BC136941;BC136942;BK004357;CH471078;NM_001005501 AAI36942;AAI36943;BAC06101;DAA04755;EAW66496;NP_001005501;Q8NGD2 Hs.551345 OR14-15 OTTHUMP00000244148;olfactory receptor 4K2;olfactory receptor OR14-15 APPROVED protein-coding ENSG00000165762 HGNC:14728 14980 PROVISIONAL 1317906 OR4K17 olfactory receptor, family 4, subfamily K, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 447156 448187 + 20585566 20586597 + 20117407 20118438 + 8554872 14983052 390436 Q8NGC6 AB065891;ABBA01061220;AL163152;AMYH02028816;BK004450;CH471078;CS248250;NM_001004715 BAC06107;CAJ56650;DAA04848;EAW66488;NP_001004715;Q8NGC6 Hs.553765 2219316 OR4K17__6039 OR14-29 OTTHUMP00000244393;olfactory receptor 4K17;olfactory receptor OR14-29 APPROVED protein-coding ENSG00000176230 HGNC:15355 14979 PROVISIONAL 1350165 OR4K3 olfactory receptor, family 4, subfamily K, member 3 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 201656 203003 - 20336156 20337502 - 19867997 19869343 - 12213199;12508121;12730696;14983052 283617 Q96R72 AB065884;ABBA01061213;AL391156;AMYH02028810;NG_003198 Q96R72 OR14-10;OR4K3P olfactory receptor, family 4, subfamily K, member 3 gene/pseudogene;olfactory receptor, family 4, subfamily k, member 3 pseudogene APPROVED pseudo HGNC:14731 INFERRED 1348908 OR4K6P olfactory receptor, family 4, subfamily K, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 180904 181966 + 20315426 20316488 + 19847267 19848329 + 79314 ABBA01061213;AC024399;AL391156;AMYH02028810;NG_002240 APPROVED pseudo HGNC:14748 INFERRED 1349816 OR4K5 olfactory receptor, family 4, subfamily K, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 254246 255217 + 20388766 20389737 + 19920607 19921578 + 1580863;6480464;8554872 12477932;14983052;20379614 79317 Q8NGD3 AB065882;ABBA01061215;AC024399;AL391156;AMYH02028811;BC140947;BK004355;CH471078;NM_001005483 AAI40948;BAC06100;DAA04753;EAW66495;NP_001005483;Q8NGD3 Hs.554585 OR14-16 OTTHUMP00000244149;olfactory receptor 4K5;olfactory receptor OR14-16 APPROVED protein-coding ENSG00000176281 HGNC:14745 14981 PROVISIONAL 1604687 OR4K8P olfactory receptor, family 4, subfamily K, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 18 18 p11.21 14613209 14614180 + 14613210 14614181 + 14983052 390836 ABBA01074075;AMYH02034359;AP005058;BK004699;NG_002222 OR18-1;OR4K9P APPROVED pseudo HGNC:14787 INFERRED 1349097 OR4L1 olfactory receptor, family 4, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 393710 394629 + 20528204 20529142 + 20060045 20060983 + 1580863;6480464;8554872 14983052 122742 Q8NH43 AB065558;ABBA01061218;AL359218;AMYH02028814;BK004467;CS248430;NM_001004717 BAC05796;CAJ56735;DAA04865;NP_001004717;Q8NH43 Hs.553574 2110613 OR4L1__7144 OR14-28;OR4L2P OTTHUMP00000241301;olfactory receptor 4L1;olfactory receptor 4L2;olfactory receptor OR14-28;olfactory receptor, family 4, subfamily L, member 2 pseudogene APPROVED protein-coding ENSG00000176246 HGNC:15356 14982 PROVISIONAL 1354390 OR4M1 olfactory receptor, family 4, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 113936 114877 + 20248482 20249423 + 19780323 19781264 + 1580863;6480464 12477932;14983052 441670 Q8NGD0 AB065886;ABBA01061213;AC024399;AL512310;AMYH02028810;BC136987;BK004359;CH471078;NM_001005500 AAI36988;BAC06103;DAA04757;EAW66499;NP_001005500;Q8NGD0 Hs.553829 2110615;2110617 OR4M1__6042.2;OR4M2__6043 OR14-7 OTTHUMP00000244114;olfactory receptor 4M1;olfactory receptor OR14-7 APPROVED protein-coding ENSG00000176299 HGNC:14735 14983 PROVISIONAL 1342583 OR4M2 olfactory receptor, family 4, subfamily M, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 3036 4119 - 22368478 22369561 + 22080527 22081610 + 1580863;6480464;8554872 12477932;14983052 390538 Q8NGB6 AB065903;AC134980;AMYH02030018;BC136985;BK004480;NM_001004719 AAI36986;BAC06118;DAA04878;NP_001004719;Q8NGB6 Hs.729625 2110615;2110617 OR4M1__6042.2;OR4M2__6043 OR15-3 OTTHUMP00000246760;olfactory receptor 4M2;olfactory receptor OR15-3 APPROVED protein-coding ENSG00000274102 HGNC:15373 14984 VALIDATED 1345454 OR4K11P olfactory receptor, family 4, subfamily K, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 21 21 q11.1 14916552 14917506 - 13544231 13545185 - 12644552 81079 AF546490;AMYH02037513;AP001465;NG_004161 OR21-1 APPROVED pseudo HGNC:15402 INFERRED 1351369 OR4N2 olfactory receptor, family 4, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a seven-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2014] 14 14 14 q11.2 161080 162003 + 20295608 20296531 + 19827449 19828372 + 1580863;6480464;8554872 14983052;8889548 390429 G3V3W5;G3V4W1;Q8NGD1 AB065885;ABBA01061213;AC024399;AL391156;AMYH02028810;BK004360;BK004473;BM696516;CH471078;NG_034035;NM_001004723 AAI40460;AAI48709;BAC06102;DAA04758;DAA04871;EAW66498;NP_001004723;Q8NGD1 Hs.512490 1772896 GDB:315157 OR14-13;OR14-8 OTTHUMP00000244257;olfactory receptor 4N2;olfactory receptor OR14-13;olfactory receptor OR14-8 APPROVED protein-coding ENSG00000176294 HGNC:14742 17730 VALIDATED 1344920 OR4N4 olfactory receptor, family 4, subfamily N, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 246446 247396 - 22382473 22383815 + 22094522 22095864 + 1580863;6480464;8554872 12477932;14702039;14983052 283694 Q8N0Y3 AB065653;AB065904;AC134980;AMYH02030018;BC136597;BC136598;BK004406;BK004479;CH878499;DB515791;NM_001005241 AAI36598;AAI36599;BAC05879;BAC06119;DAA04804;DAA04877;EAW50561;NP_001005241;Q8N0Y3 Hs.525666 OR15-1;OR15-5 OTTHUMP00000246761;olfactory receptor 4N4;olfactory receptor OR15-1;olfactory receptor OR15-5 APPROVED protein-coding HGNC:15375 17731 VALIDATED 1605498 OR4N3P olfactory receptor, family 4, subfamily N, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 1886 2822 + 22413462 22414398 + 22125511 22126447 + 14983052 390539 Q8N0X1 AB065654;AB065905;ABBA01017700;AC010760;AC134980;AMYH02030018;BK004787;BX114189;NR_028067 BAC05880;BAC06120 Hs.666555 1772896 GDB:315157 OR15-2 APPROVED pseudo ENSG00000259435 HGNC:15374 VALIDATED 1346655 OR4P1P olfactory receptor, family 4, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52792564 52793699 + 55450716 55451851 + 55683240 55684375 + 6480464 79308 AB065518;ABBA01021458;AC022289;AMYH02024827;AP006437;NG_002236 OR4P2P APPROVED pseudo HGNC:14754 INFERRED 1322544 OR4N5 olfactory receptor, family 4, subfamily N, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 473483 474409 + 20611895 20612821 + 20143736 20144662 + 1580863;6480464;8554872 14983052 390437 Q8IXE1 AB065890;ABBA01061220;AL163152;AMYH02028816;BK004451;CH471078;CS248252;NM_001004724 BAC45262;CAJ56860;DAA04849;EAW66487;NP_001004724;Q8IXE1 Hs.553766 OTTHUMP00000244394;olfactory receptor 4N5;olfactory receptor OR14-33 APPROVED protein-coding ENSG00000184394 HGNC:15358 14985 PROVISIONAL 1349189 OR4P4 olfactory receptor, family 4, subfamily P, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 52747688 52748626 + 55405834 55406772 + 55638358 55639296 + 1580863;6480464 12213199 81300 Q8NGL7 AB065775;ABBA01021457;AF399448;AMYH02024825;AP006437;CH471076;NM_001004124 BAC05995;EAW73677;NP_001004124;Q8NGL7 Hs.626750 OR4P3P OTTHUMP00000229315;olfactory receptor 4P3;olfactory receptor 4P4;olfactory receptor, family 4, subfamily P, member 3 pseudogene APPROVED protein-coding ENSG00000181927 HGNC:15180 14986 PROVISIONAL 1347787 OR4Q2 olfactory receptor, family 4, subfamily Q, member 2 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 335810 336739 + 20470321 20471251 + 20002162 20003092 + 6480464 12213199;12730696;14983052 390432 P0C623 ABBA01061217;AL359218;AMYH02028812;NG_004349 P0C623 OR4Q2P APPROVED pseudo HGNC:15359 INFERRED 1348008 OR4R1P olfactory receptor, family 4, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48657921 48658766 - 48507739 48508584 - 48486187 48487032 - 79528 ABBA01060679;AC134982;AMYH02024759;AP002509;NG_002265 2182846 D11S4420 APPROVED pseudo HGNC:14798 INFERRED 1344620 OR4Q3 olfactory receptor, family 4, subfamily Q, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 81050 81991 + 20215587 20216528 + 19747428 19748369 + 1580863;6480464;8554872 10706615;14983052 441669 Q8NH05 AB065609;ABBA01061213;AF179768;AL512310;AMYH02028810;BK004488;CH471078;NM_172194 AAI48514;AAI53112;BAC05836;DAA04886;EAW66501;NP_751944;Q8NH05 Hs.553828 C14orf13;HSA6;OR14-3;OR4Q4;c14_5008 OTTHUMP00000244258;olfactory receptor 4Q3;olfactory receptor 4Q4;olfactory receptor OR14-3;olfactory receptor, family 4, subfamily Q, member 4 APPROVED protein-coding ENSG00000182652 HGNC:15426 17732 PROVISIONAL 1354330 OR4R2P olfactory receptor, family 4, subfamily R, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51768299 51769155 - 51461327 51462183 + 54657097 54657953 - 81299 ABBA01021445;AC126345;AMYH02024786;NG_004231 2182846 D11S4420 APPROVED pseudo HGNC:15181 INFERRED 1349619 OR4N1P olfactory receptor, family 4, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 129975 130923 + 20264504 20265477 + 19796345 19797318 + 14983052 79322 ABBA01061213;AC024399;AL391156;AL512310;AMYH02028810;BK004696;BK004715;NG_002243 OR14-12;OR14-6 APPROVED pseudo HGNC:14740 INFERRED 1351177 OR4R3P olfactory receptor, family 4, subfamily R, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50095905 50096742 + 49944602 49945439 + 49923050 49923887 + 81298 ABBA01060662;AC110057;AMYH02024766;AP006587;NG_004230 APPROVED pseudo HGNC:15182 INFERRED 1345934 OR4S2 olfactory receptor, family 4, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52760233 52761168 + 55418380 55419315 + 55650904 55651839 + 1580863;6480464;8554872 12213199;12644552;14983052;22939629 219431 Q8NH73 AB065516;ABBA01021457;AC027239;AF399447;AF546546;AMYH02024826;AP006437;BK004390;CH471076;CS248346;NM_001004059 AAI41532;BAC05764;CAJ56693;DAA04788;EAW73678;NP_001004059;Q8NH73 Hs.553621 OR11-137;OR4S2P;OST725 OTTHUMP00000234200;olfactory receptor 4S2;olfactory receptor OR11-137;olfactory receptor, family 4, subfamily S, member 2 pseudogene APPROVED protein-coding ENSG00000174982 HGNC:15183 14988 VALIDATED 1348625 OR4S1 olfactory receptor, family 4, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48477745 48478674 + 48327775 48328704 + 48306223 48307152 + 1580863;6480464 14983052;22581228 256148 Q8NGB4 AB065908;ABBA01060679;AC023080;AMYH02024759;BK004348;CH471064;NM_001004725 BAC06123;DAA04746;EAW67869;NP_001004725;Q8NGB4 Hs.553657 OR11-100 OTTHUMP00000233586;olfactory receptor 4S1;olfactory receptor OR11-100 APPROVED protein-coding ENSG00000176555 HGNC:14705 14987 PROVISIONAL 1353393 OR4U1P olfactory receptor, family 4, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 377585 378524 + 20512075 20513014 + 20043916 20044855 + 390434 ABBA01061218;AL359218;AMYH02028814;NG_004350 OR14-23 APPROVED pseudo HGNC:15361 INFERRED 1345097 OR4W1P olfactory receptor, family 4, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q25 126021046 126021393 - 125636854 125637201 - 126502871 126503218 - 81077 ABBA01047463;AMYH02040440;KF459366;NG_004159;Z69908 APPROVED pseudo HGNC:15405 INFERRED 1353763 OR4Q1P olfactory receptor, family 4, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 1418 2356 - 22332368 22333348 + 22044417 22045397 + 81104 ABBA01017833;AC134980;AMYH02030018;NG_004162 APPROVED pseudo HGNC:15376 INFERRED 1347269 OR4V1P olfactory receptor, family 4, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52782865 52784004 + 55441013 55442152 + 55673537 55674676 + 79534 ABBA01021457;AC022289;AMYH02024826;AP006437;NG_002270 APPROVED pseudo HGNC:14736 INFERRED 1353308 OR4X7P olfactory receptor, family 4, subfamily X, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52522380 52522571 + 55179003 55179194 + 55411527 55411718 + 403264 ABBA01021457;AMYH02024821;AP005639;NG_005820 APPROVED pseudo HGNC:31277 INFERRED 1353376 OR4X2 olfactory receptor, family 4, subfamily X, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48416623 48417534 + 48266656 48267567 + 48245104 48246015 + 1580863;6480464;8554872 12213199;12477932;14983052 119764 Q8NGF9 AB065847;ABBA01060679;AC026975;AF399580;AMYH02024759;BC136935;BC136936;BK004389;CH471064;CS248258;NM_001004727 AAI36936;AAI36937;AAK95065;BAC06065;CAJ56653;DAA04787;EAW67871;NP_001004727;Q8NGF9 Hs.553565 OR11-105 OTTHUMP00000229339;olfactory receptor 4X2;olfactory receptor OR11-105 APPROVED protein-coding ENSG00000172208;ENSG00000279556 HGNC:15184 14990 PROVISIONAL 1350139 OR4X1 olfactory receptor, family 4, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48435389 48436306 + 48285413 48286330 + 48263861 48264778 + 1580863;6480464;8554872 14983052;17964544 390113 Q8NH49 AB065544;ABBA01060679;AC026975;AMYH02024759;BK004388;CH471064;CS248256;NM_001004726 BAC05789;CAJ56652;DAA04786;EAW67870;NP_001004726;Q8NH49 Hs.553742 1727047 G62923 OR11-104 OTTHUMP00000229336;olfactory receptor 4X1;olfactory receptor OR11-104 APPROVED protein-coding ENSG00000176567;ENSG00000279260 HGNC:14854 14989 PROVISIONAL 1348493 OR51A1P olfactory receptor, family 51, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5309975 5311242 - 5191287 5192553 - 5170057 5171323 - 1580863 9272169 26537 Q9NSC9 ABBA01028647;AC129505;AMYH02024253;NG_002199;X81445 CAB89291 1810550;1810770;1811074;1832568;1838970;2051968;2051970;2051972;2051974;2051976;2051978;2051980;2051982;2051984;2051986;2051988;2051990;2051992;2051994;2051996;2051998;2052000;2105430;2105432 ECD06268;ECD06383;ECD06535;ECD17424;ECD20664;REN97141;REN97142;REN97143;REN97144;REN97145;REN97146;REN97147;REN97148;REN97149;REN97150;REN97151;REN97152;REN97153;REN97154;REN97155;REN97156;REN97157;stSG610792;stSG610793 HPFH6OR APPROVED pseudo HGNC:8316 INFERRED 1348064 OR51A2 olfactory receptor, family 51, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7575 8516 + 4976002 4976943 - 4954772 4955713 - 1580863;6480464;8554872 401667 Q8NGJ7 AB065797;ABBA01028642;AC018375;AC020597;AMYH02024250;CS248512;NM_001004748 AAI48563;BAC06016;CAJ56773;NP_001004748;Q8NGJ7 Hs.553805 1802246;1803460;1804068;1810688;1817154;1822594;1837238;2105148;2105150;2105164;2105166;2219318 ECD02007;ECD02627;ECD02951;ECD06339;ECD09627;ECD12385;ECD19786;OR51A4__5858;stSG610642;stSG610643;stSG610650;stSG610651 OTTHUMP00000069569;olfactory receptor 51A2 APPROVED protein-coding ENSG00000205496 HGNC:14764 17733 PROVISIONAL 1348436 OR51A3P olfactory receptor, family 51, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5082377 5083333 - 4958568 4959524 - 4937338 4938294 - 79532 ABBA01028642;AC018375;AC020597;AMYH02024249;NG_002268 1798360;1807026;1837700;2105134;2105136 ECD00015;ECD04478;ECD20018;stSG610635;stSG610636 APPROVED pseudo HGNC:14794 INFERRED 1352360 OR51A5P olfactory receptor, family 51, subfamily A, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5109353 5110318 - 4994161 4995126 - 4972931 4973896 - 79525 ABBA01028642;AC018375;AC020597;AMYH02024250;NG_002263 1810766;1810768;1811454;1817858;2050254;2050256;2050258;2050260;2050262;2050264;2050266;2050268;2050270;2050272;2050274;2050276;2050278;2050280;2050282;2050284;2105178;2105180;2105182;2105184 ECD06381;ECD06382;ECD06727;ECD09983;REN96280;REN96281;REN96282;REN96283;REN96284;REN96285;REN96286;REN96287;REN96288;REN96289;REN96290;REN96291;REN96292;REN96293;REN96294;REN96295;stSG610658;stSG610659;stSG610660;stSG610661 APPROVED pseudo HGNC:14801 INFERRED 1345327 OR51A4 olfactory receptor, family 51, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5091198 5092139 - 4967389 4968330 - 4946159 4947100 - 1580863;6480464;8554872 12477932 401666 Q8NGJ6 AB065798;ABBA01028642;AC018375;AC020597;AMYH02024249;BC140757;CS248508;NM_001005329 AAI40758;BAC06017;CAJ56771;NP_001005329;Q8NGJ6 Hs.555481 1801774;1802246;1803460;1804068;1817154;1822594;1837238;2105148;2105150;2105166;2219318 ECD01768;ECD02007;ECD02627;ECD02951;ECD09627;ECD12385;ECD19786;OR51A4__5858;stSG610642;stSG610643;stSG610651 OTTHUMP00000069574;olfactory receptor 51A4 APPROVED protein-coding ENSG00000205497 HGNC:14795 14991 PROVISIONAL 1353357 OR51A6P olfactory receptor, family 51, subfamily A, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5034606 5035624 - 4910807 4911825 - 4889577 4890595 - 390046 ABBA01028642;AC018375;AMYH02024249;NG_004325 1335397;1804888;1809576;1816552;2105064 D11S2362;ECD03379;ECD05780;ECD09318;stSG610599 APPROVED pseudo HGNC:15187 INFERRED 1352941 OR51A7 olfactory receptor, family 51, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5052408 5053346 + 4928600 4929538 + 4907370 4908308 + 1580863;6480464;8554872 12477932;14983052 119687 Q8NH64 AB065525;ABBA01028642;AC018375;AMYH02024249;BC137062;BC137063;BK004284;CH471064;CS248528;NM_001004749 AAI37063;AAI37064;BAC05773;CAJ56781;DAA04682;EAW68822;NP_001004749;Q8NH64 Hs.553560 1814618;1817388;1824184;2105090;2105092;2219320 ECD08339;ECD09744;ECD13189;OR51A7__5859;stSG610612;stSG610613 OR11-27 OTTHUMP00000069316;olfactory receptor 51A7;olfactory receptor OR11-27 APPROVED protein-coding ENSG00000176895 HGNC:15188 14992 PROVISIONAL 1345489 OR51A8P olfactory receptor, family 51, subfamily A, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4977154 4978090 + 4853363 4854299 + 4832133 4833069 + 401662 ABBA01028642;AC103710;AMYH02024247;NG_004387 1800090;1801184;1806872;2105002 ECD00901;ECD01464;ECD04401;stSG610566 APPROVED pseudo HGNC:15189 INFERRED 1354033 OR51A9P olfactory receptor, family 51, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4806257 4807155 - 4682061 4682959 - 4660831 4661729 - 390039 ABBA01028642;AC090719;AMYH02024246;NG_004320 APPROVED pseudo HGNC:15190 INFERRED 1353482 OR51AB1P olfactory receptor, family 51, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5431180 5432064 - 5312697 5313581 - 5291467 5292351 - 403265 ABBA01028649;AC104389;AMYH02024255;NG_004424 1795138;1815480;1819650;1829128;2052938;2052940;2052942;2052944;2052946;2052948;2052950;2052952;2052954;2052956;2052958;2105566 ECD08776;ECD10892;ECD15691;PMC99797P1;REN97628;REN97629;REN97630;REN97631;REN97632;REN97633;REN97634;REN97635;REN97636;REN97637;REN97638;stSG610872 APPROVED pseudo HGNC:31278 INFERRED 1349530 OR4K7P olfactory receptor, family 4, subfamily K, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 18 18 18 p11.21 14692300 14693261 + 14570743 14571715 + 14570744 14571716 + 79306 ABBA01074075;AC013659;AMYH02034359;AP005058;NG_002235 OR4K10P APPROVED pseudo HGNC:14756 INFERRED 1351305 OR4T1P olfactory receptor, family 4, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 423104 424024 + 20561515 20562435 + 20093356 20094276 + 390435 ABBA01061218;AL163152;AMYH02028815;NG_004351 APPROVED pseudo HGNC:15360 INFERRED 1345725 OR51B3P olfactory receptor, family 51, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5454445 5455395 - 5335975 5336923 - 5314745 5315693 - 11121057 79342 ABBA01028650;AC104389;AMYH02024255;NG_004142 1799446;1799614;1800156;2053142;2053144;2053146;2053148;2053150;2053152;2053154;2053156;2053158;2053160;2053162;2053164;2053166;2053168;2053170;2105598;2105600;2105602;2105604 ECD00574;ECD00661;ECD00935;REN97731;REN97732;REN97733;REN97734;REN97735;REN97736;REN97737;REN97738;REN97739;REN97740;REN97741;REN97742;REN97743;REN97744;REN97745;stSG610889;stSG610890;stSG610891;stSG610892 APPROVED pseudo HGNC:14706 INFERRED 1351923 OR51B2 olfactory receptor, family 51, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15 5462998 5464052 - 5344528 5345582 - 5323298 5324352 - 1580863;6480464;8554872 10220430;11121057;12213199;12477932 79345 Q17R53;Q9Y5P1 ABBA01028650;AC104389;AF137396;AF149710;AF399503;AMYH02024255;BC117461;CH471064;NM_033180 AAD29425;AAI17462;AAK94988;ADR82912;EAW68800;NP_149420;Q9Y5P1 Hs.680163 1794486;1805662;1815966;1816128;1839212;2053212;2053214;2053216;2053218;2053220;2053222;2053224;2053226;2053228;2053230;2053232;2053234;2053236;2053238;2105612;2105614;5492451;5492955 ECD03781;ECD09023;ECD09104;ECD20786;PMC316536P1;REN97766;REN97767;REN97768;REN97769;REN97770;REN97771;REN97772;REN97773;REN97774;REN97775;REN97776;REN97777;REN97778;REN97779;UniSTS:481103;UniSTS:483419;stSG610896;stSG610897 HOR5'Beta3;OR51B1P OTTHUMP00000069647;odorant receptor HOR5'beta3;olfactory receptor 51B1;olfactory receptor 51B2 APPROVED protein-coding ENSG00000184881;ENSG00000279012 HGNC:14703 17734 VALIDATED 1344392 OR51B4 olfactory receptor, family 51, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15 5440727 5441659 - 5322244 5323176 - 5301014 5301946 - 1580863;6480464;8554872 10220430;11121057;12477932;15489334;24657165 79339 A4FU14;Q9Y5P0 ABBA01028649;AC104389;AF137396;AMYH02024255;BC069094;BC100919;BC148186;BC153815;CH471064;NM_033179 AAD29426;AAH69094;AAI00920;AAI48187;AAI53816;EAW68801;NP_149419;Q9Y5P0 Hs.679499 1804700;1805012;1817222;1829624;2053016;2053018;2053020;2053022;2053024;2053026;2053028;2053030;2053032;2053034;2053036;2053038;2053040;2053042;2105578;2219322;5493937 ECD03282;ECD03447;ECD09661;ECD15944;OR51B4__5860;REN97668;REN97669;REN97670;REN97671;REN97672;REN97673;REN97674;REN97675;REN97676;REN97677;REN97678;REN97679;REN97680;REN97681;UniSTS:480443;stSG610879 HOR5'Beta1 OTTHUMP00000069634;odorant receptor HOR5'beta1;olfactory receptor 51B4 APPROVED protein-coding ENSG00000183251 HGNC:14708 17735 VALIDATED 1353135 OR51A10P olfactory receptor, family 51, subfamily A, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5608244 5609099 - 5489734 5490589 - 5468504 5469359 - 81295 ABBA01028651;AC087380;AMYH02024256;NG_004229 1799748;1800092;1838878;1841872;2054312;2054314;2054316;2054318;2054320;2054322;2054324;2054326;2054328;2054330;2054332;2054334;2054336;2054338;2105796;2105798 ECD00728;ECD00902;ECD20618;ECD22138;REN98318;REN98319;REN98320;REN98321;REN98322;REN98323;REN98324;REN98325;REN98326;REN98327;REN98328;REN98329;REN98330;REN98331;stSG610993;stSG610994 OR51A11P;OR51A13 APPROVED pseudo HGNC:15185 INFERRED 1349285 OR51B8P olfactory receptor, family 51, subfamily B, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5470285 5471042 - 5351818 5352575 - 5330588 5331345 - 403266 ABBA01028650;AC104389;AMYH02024255;NG_004425 1804204;1834826;1846126;2053272;2053274;2053276;2053278;2053280;2053282;2053284;2053286;2053288;2053290;2053292;2053294;2105626;2105628 ECD03024;ECD18562;ECD24283;REN97796;REN97797;REN97798;REN97799;REN97800;REN97801;REN97802;REN97803;REN97804;REN97805;REN97806;REN97807;stSG610903;stSG610904 APPROVED pseudo HGNC:31279 INFERRED 1343909 OR51B5 olfactory receptor, family 51, subfamily B, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5482287 5483225 - 5362113 5368140 - 5340883 5346910 - 6480464;8554872 10220430;11121057;12477932;14983052;20018918 282763 Q05CQ2;Q9H339 ABBA01028650;ABBA01028651;AC104389;AF137396;AMYH02024255;BC022184;BC136707;BC136708;BG493214;BG776801;BK004430;CH471064;NM_001005567;NR_038321 AAG41683;AAH22184;AAI36708;AAI36709;DAA04828;EAW68799;NP_001005567;Q9H339 Hs.690458 1802668;1806184;1806518;2053372;2053374;2053376;2053378;2053380;2053382;2053384;2053386;2053388;2053390;2053392;2053394;2053396;2053398;2105642 ECD02221;ECD04047;ECD04216;REN97846;REN97847;REN97848;REN97849;REN97850;REN97851;REN97852;REN97853;REN97854;REN97855;REN97856;REN97857;REN97858;REN97859;stSG610912 HOR5'Beta5;OR11-37 OTTHUMP00000069643;odorant receptor HOR5'beta5;olfactory receptor 51B5;olfactory receptor OR11-37 APPROVED protein-coding HGNC:19599 14993 VALIDATED 1343067 OR51C1P olfactory receptor, family 51, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4836186 4837127 - 4711990 4712931 - 4690760 4691701 - 6480464 401661 Q8NH68 AB065521;ABBA01028642;AC090719;AMYH02024247;NG_004228 OR51C2P;OR51C3P;OST734 APPROVED pseudo HGNC:15191 INFERRED 1353212 OR51C4P olfactory receptor, family 51, subfamily C, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4864048 4864995 + 4739842 4740789 + 4718612 4719559 + 390041 ABBA01028642;AC103710;AMYH02024247;NG_004322 APPROVED pseudo HGNC:31280 INFERRED 1344581 OR51D1 olfactory receptor, family 51, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4785136 4786259 + 4660945 4662068 + 4639715 4640838 + 1580863;6480464 12477932;12732197;14983052 390038 Q8NGF3 AB065855;ABBA01028642;AC090719;AMYH02024246;BC140717;BK004370;CH471064;CS248544;NM_001004751 AAI40718;BAC06073;CAJ56789;DAA04768;EAW68833;NP_001004751;Q8NGF3 Hs.553728 2219326 OR51D1__5862 OR11-14;OR51D1Q OTTHUMP00000230832;olfactory receptor 51D1;olfactory receptor OR11-14 APPROVED protein-coding ENSG00000197428 HGNC:15193 14995 VALIDATED 1605574 OR51E1 olfactory receptor, family 51, subfamily E, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4789349 4800914 + 4665156 4676718 + 4643926 4655488 + 6480464 12477932;12732197;14702039;14983052;15313197;15489334;16206286;16491480;23184910;23969981;7566098 143503 E9PKL6;Q8TCB6 AB065787;ABBA01028642;AC090719;AK023643;AK293091;AL833127;AMYH02024246;AY698056;AY775731;BC022401;BK004369;CH471064;CS248538;NM_152430;XM_005252798 AAH22401;AAU07996;AAV54110;BAC06006;BAF85780;CAJ56786;DAA04767;EAW68832;NP_689643;Q8TCB6;XP_005252855 Hs.470038 2184665 D11S1088 D-GPCR;DGPCR;FLJ13581;GPR136;GPR164;MGC24137;OR51E1P;OR52A3P;POGR;PSGR2 Dresden-G-protein-coupled receptor;G-protein coupled receptor 164;OTTHUMP00000211320;olfactory receptor 51E1;olfactory receptor 52A3;olfactory receptor OR11-15;olfactory receptor, family 51, subfamily E, member 1 pseudogene;olfactory receptor, family 52, subfamily A, member 3 pseudogene;prostate overexpressed G protein-coupled receptor;prostate-overexpressed G protein-coupled receptor;prostate-specific G protein-coupled receptor 2 APPROVED protein-coding ENSG00000180785 HGNC:15194 14996 611267 VALIDATED 1353578 OR51F3P olfactory receptor, family 51, subfamily F, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4881614 4882514 - 4757407 4758307 - 4736177 4737077 - 390043 ABBA01028642;AC103710;AMYH02024247;KF455317;NG_004323 APPROVED pseudo HGNC:31281 INFERRED 1348115 OR51F5P olfactory receptor, family 51, subfamily F, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4854997 4855938 + 4730799 4731740 + 4709569 4710510 + 390040 ABBA01028642;AC103710;AMYH02024247;NG_004321 APPROVED pseudo HGNC:31283 INFERRED 1353480 OR51F4P olfactory receptor, family 51, subfamily F, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4897478 4898376 - 4773275 4774173 - 4752045 4752943 - 390044 ABBA01028642;AC103710;AMYH02024247;NG_004324 1827980;1830194;2104896 ECD15113;ECD16230;stSG610511 APPROVED pseudo HGNC:31282 INFERRED 1353833 OR51F1 olfactory receptor, family 51, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4914312 4915249 - 4790209 4791147 - 4768979 4769917 - 6480464;8554872 12644552;14983052;23717212 256892 A6NGY5;A6NLW9 ABBA01028642;AC103710;AF546560;AMYH02024247;BK004771;NM_001004752 A6NGY5;NP_001004752 Hs.553659 1801182;1802294;2104918;2219328 ECD01463;ECD02031;OR51F1__5863;stSG610523 OR11-21;OR51F1P OTTHUMP00000069317;olfactory receptor 51F1;olfactory receptor OR11-21 pseudogene;olfactory receptor, family 51, subfamily F, member 1 pseudogene APPROVED protein-coding ENSG00000188069;ENSG00000280021 HGNC:15196 17737 PROVISIONAL 736827 OR51E2 olfactory receptor, family 51, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15 4825597 4843274 - 4701401 4719076 - 4680171 4697846 - 1580863;6480464 11118034;11181995;11593396;11707321;12477932;14983052;15489334;15499628;16149059;16231015;16491480;19389702;7566098 81285 E9PPJ8;Q9H255 ABBA01028642;AC090719;AC105936;AF311306;AF369708;AK314051;AMYH02024247;AY033942;BC020768;BK004368;CH471064;CS248536;NM_030774 AAG40776;AAH20768;AAK38728;AAK57550;ABM83628;ABM86872;BAG36760;CAJ56785;DAA04766;EAW68829;EAW68831;NP_110401;Q9H255 Hs.501758;Hs.606330 1675066;1722225;1782456;1782460;2111986;2150006 D11S2420;D11S4892;G60018;RH48171;SHGC-155536;SHGC-155730 HPRAJ;OR51E3P;OR52A2;PSGR OTTHUMP00000164514;olfactory receptor 51E2;olfactory receptor 78;olfactory receptor OR11-16;olfactory receptor, family 51, subfamily E, member 3 pseudogene;olfactory receptor, family 52, subfamily A, member 2;prostate specific G-protein coupled receptor;prostate-specific G-protein coupled receptor APPROVED protein-coding ENSG00000167332 HGNC:15195 17736 611268 VALIDATED 1350324 OR51B6 olfactory receptor, family 51, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5491224 5492162 + 5372738 5373676 + 5351508 5352446 + 6480464;8554872 10220430;11121057;20018918 390058 Q9H340 ABBA01028651;AC104389;AF137396;AMYH02024255;CH471064;NM_001004750 AAG41682;AAI48510;AAI53110;EAW68798;NP_001004750;Q9H340 Hs.553730 1807822;1807900;1808662;1827894;2053436;2053438;2053440;2053442;2053444;2053446;2053448;2053450;2053452;2053454;2053456;2053458;2053460;2053462;2053464;2053466;2105652;2219324 ECD04886;ECD04925;ECD05313;ECD15070;OR51B6__5861;REN97878;REN97879;REN97880;REN97881;REN97882;REN97883;REN97884;REN97885;REN97886;REN97887;REN97888;REN97889;REN97890;REN97891;REN97892;REN97893;stSG610918 HOR5'Beta6 OTTHUMP00000069636;odorant receptor HOR5'beta6;olfactory receptor 51B5;olfactory receptor 51B6 APPROVED protein-coding ENSG00000176239 HGNC:19600 14994 PROVISIONAL 1345426 OR51G1 olfactory receptor, family 51, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5068414 5069379 - 4944604 4945569 - 4923374 4924339 - 1580863;6480464;8554872 12477932;14983052;20379614 79324 Q8NGK1 AB065793;ABBA01028642;AC018375;AC020597;AMYH02024249;BC136852;BC136861;BK004286;CH471064;NM_001005237 AAI36853;AAI36862;BAC06012;DAA04684;EAW68820;NP_001005237;Q8NGK1 Hs.554541 1803130;1808026;1831930;2105116;2105118;2121699 D11S1021;ECD02456;ECD04991;ECD17103;stSG610626;stSG610627 OR11-29;OR51G3P OTTHUMP00000069394;olfactory receptor 51G1;olfactory receptor 51G3;olfactory receptor OR11-29 APPROVED protein-coding ENSG00000176879;ENSG00000278870 HGNC:14738 14997 PROVISIONAL 1353970 OR51H2P olfactory receptor, family 51, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5021585 5022533 + 4897787 4898733 + 4876557 4877503 + 401664 ABBA01028642;AC011711;AMYH02024249;NG_004389 1804394;1805858;1809250;2105040;2105042 ECD03121;ECD03882;ECD05615;stSG610587;stSG610588 APPROVED pseudo HGNC:15199 INFERRED 1353617 OR51H1 olfactory receptor, family 51, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5004648 5005592 - 4880849 4881793 - 4859619 4860563 - 6480464 14983052 401663 Q8NH63 AB065527;ABBA01028642;AC011711;AMYH02024249;BK004279;CH471064;NG_004388 BAC05774;DAA04677;EAW68824;Q8NH63 1803874;1803976;2105022;2105024 ECD02850;ECD02903;stSG610577;stSG610578 OR51H1 APPROVED pseudo HGNC:14833 INFERRED 1351753 OR51G2 olfactory receptor, family 51, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5059757 5060701 - 4935949 4936893 - 4914719 4915663 - 1580863;8554872 12477932;12908129;14983052 81282 Q8NGK0 AB065794;ABBA01028642;AC018375;AMYH02024249;AY284517;BC136830;BC136831;BK004285;CH471064;CS248520;NM_001005238 AAI36831;AAI36832;BAC06013;CAJ56777;DAA04683;EAW68821;NP_001005238;Q8NGK0 Hs.542302 1812374;1813094;1828778;2105102;2105104 ECD07194;ECD07566;ECD15516;stSG610619;stSG610620 OR11-28 OTTHUMP00000069315;olfactory receptor 51G2;olfactory receptor OR11-28 APPROVED protein-coding ENSG00000176893 HGNC:15198 14998 PROVISIONAL 1349575 OR51I1 olfactory receptor, family 51, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5580260 5581271 - 5461772 5462783 - 5440542 5441553 - 6480464;8554872 10220430;11121057;12477932;14983052;23406172 390063 Q9H343 ABBA01028651;AC087380;AF137396;AMYH02024256;BC151148;BK004429;CH471064;CS248488;NM_001005288 AAG41679;AAI51149;CAJ56761;DAA04827;EAW68794;NP_001005288;Q9H343 Hs.553732 1802130;1802300;2054082;2054084;2054086;2054088;2054090;2054092;2054094;2054096;2054098;2054100;2054102;2054104;2054106;2054108;2054110;2105760;2105762 ECD01947;ECD02034;REN98203;REN98204;REN98205;REN98206;REN98207;REN98208;REN98209;REN98210;REN98211;REN98212;REN98213;REN98214;REN98215;REN98216;REN98217;stSG610975;stSG610976 HOR5'Beta11;OTTHUMP00000069828;odorant receptor HOR5'beta11;olfactory receptor 51I1;olfactory receptor OR11-39 APPROVED protein-coding ENSG00000167359 HGNC:15200 14999 VALIDATED 1349282 OR51J1 olfactory receptor, family 51, subfamily J, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5542195 5543369 + 5423727 5424901 + 5402497 5403671 + 6480464 11121057 79470 Q9H342 ABBA01028651;AC026083;AC104389;AMYH02024255;NG_002252 Q9H342 1804018;1808880;1821860;1822716;2053786;2053788;2053790;2053792;2053794;2053796;2053798;2053800;2053802;2053804;2053806;2053808;2053810;2053812;2105710;2105712;2105714 ECD02925;ECD05423;ECD12016;ECD12446;REN98053;REN98054;REN98055;REN98056;REN98057;REN98058;REN98059;REN98060;REN98061;REN98062;REN98063;REN98064;REN98065;REN98066;stSG610948;stSG610949;stSG610950 OR51J1P;OR51J2 APPROVED pseudo HGNC:14856 INFERRED 1344394 OR51K1P olfactory receptor, family 51, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5570375 5571321 - 5451886 5452832 - 5430656 5431602 - 81278 ABBA01028651;AC087380;AMYH02024256;NG_004226 1762647;1805014;1807220;1822978;2053994;2053996;2053998;2054000;2054002;2054004;2054006;2054008;2054010;2054012;2054014;2054016;2054018;2054020;2105744;2105746 ECD03448;ECD04578;ECD12577;REN98159;REN98160;REN98161;REN98162;REN98163;REN98164;REN98165;REN98166;REN98167;REN98168;REN98169;REN98170;REN98171;REN98172;SHGC-146449;stSG610967;stSG610968 APPROVED pseudo HGNC:15202 INFERRED 1317227 OR51F2 olfactory receptor, family 51, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4966407 4967435 + 4842616 4843644 + 4821386 4822414 + 6480464;8554872 12477932;14983052 119694 Q8NH61 AB065529;ABBA01028642;AC103710;AMYH02024247;BC136877;BK004281;CH471064;CS248514;NM_001004753 AAI36878;BAC05776;CAJ56774;DAA04679;EAW68826;NP_001004753;Q8NH61 Hs.553562 1813802;1814992;1820220;1839260;2104984;2104986 ECD07926;ECD08527;ECD11184;ECD20810;stSG610556;stSG610557 OR11-23 OTTHUMP00000069320;olfactory receptor 51F2;olfactory receptor OR11-23 APPROVED protein-coding ENSG00000176925 HGNC:15197 17738 PROVISIONAL 1343610 OR51L1 olfactory receptor, family 51, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5135404 5136351 + 5020213 5021160 + 4998983 4999930 + 1580863;6480464;8554872 14983052;23406172 119682 Q8NGJ5 AB065799;ABBA01028642;AC018375;AC020597;AMYH02024250;BK004317;CH471064;CS248510;NM_001004755 AAI41572;AAI46585;BAC06018;CAJ56772;DAA04715;EAW68816;NP_001004755;Q8NGJ5 Hs.553559 1815416;1817294;1818152;2050472;2050474;2050476;2050478;2050480;2050482;2050484;2050486;2050488;2050490;2050492;2050494;2050496;2050498;2050500;2105220;2105222;2219330 ECD08744;ECD09697;ECD10133;OR51L1__5867;REN96389;REN96390;REN96391;REN96392;REN96393;REN96394;REN96395;REN96396;REN96397;REN96398;REN96399;REN96400;REN96401;REN96402;REN96403;stSG610679;stSG610680 OR11-31 OTTHUMP00000069571;olfactory receptor 51L1;olfactory receptor OR11-31 APPROVED protein-coding ENSG00000176798 HGNC:14759 11810 PROVISIONAL 1348713 OR51N1P olfactory receptor, family 51, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4931773 4932721 + 4807984 4808932 + 4786754 4787702 + 119696 ABBA01028642;AC103710;AMYH02024247;NG_004281 1818804;1820056;1827222;1827798;2104934;2104936 ECD10466;ECD11101;ECD14726;ECD15022;stSG610531;stSG610532 APPROVED pseudo HGNC:14757 INFERRED 1349567 OR51M1 olfactory receptor, family 51, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5529075 5530132 + 5410607 5411664 + 5389377 5390434 + 6480464;8554872 10220430;11121057;12477932;14983052 390059 B2RNI9;Q9H341 ABBA01028651;AC026083;AC104389;AF137396;AMYH02024255;BC136912;BC136913;BK004382;CH471064;CS248490;NM_001004756 AAG41681;AAI36913;AAI36914;CAJ56762;DAA04780;EAW68797;NP_001004756;Q9H341 Hs.553731 1817554;1817994;2053682;2053684;2053686;2053688;2053690;2053692;2053694;2053696;2053698;2053700;2053702;2053704;2053706;2053708;2053710;2053712;2105692;2105694 ECD09827;ECD10052;REN98001;REN98002;REN98003;REN98004;REN98005;REN98006;REN98007;REN98008;REN98009;REN98010;REN98011;REN98012;REN98013;REN98014;REN98015;REN98016;stSG610939;stSG610940 HOR5'Beta7;OR11-40 OTTHUMP00000069645;odorant receptor HOR5'beta7;olfactory receptor 51M1;olfactory receptor OR11-40 APPROVED protein-coding ENSG00000184698 HGNC:14847 15002 VALIDATED 1351447 OR51P1P olfactory receptor, family 51, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5151454 5152605 + 5036260 5037411 + 5015030 5016181 + 79300 ABBA01028642;AC020597;AC113331;AMYH02024251;NG_002232 1817552;1822096;1841022;2050616;2050618;2050620;2050622;2050624;2050626;2050628;2050630;2050632;2050634;2050636;2050638;2050640;2050642;2105246;2105248;2105250 ECD09826;ECD12134;ECD21704;REN96461;REN96462;REN96463;REN96464;REN96465;REN96466;REN96467;REN96468;REN96469;REN96470;REN96471;REN96472;REN96473;REN96474;stSG610693;stSG610694;stSG610695 OR51P2P APPROVED pseudo HGNC:14762 INFERRED 1343317 OR51Q1 olfactory receptor, family 51, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5561830 5562925 + 5443341 5444436 + 5422111 5423206 + 1580863;6480464;8554872 12477932;16554811 390061 Q8NH59 AB065531;ABBA01028651;AC026083;AC087380;AMYH02024256;BC136999;CH471064;CS248492;NM_001004757 AAI37000;BAC05778;CAJ56763;EAW68795;NP_001004757;Q8NH59 Hs.528592 1805944;1812378;1812582;1845654;2053906;2053908;2053910;2053912;2053914;2053916;2053918;2053920;2053922;2053924;2053926;2053928;2053930;2053932;2053934;2105730;2105732 ECD03925;ECD07196;ECD07301;ECD24045;REN98115;REN98116;REN98117;REN98118;REN98119;REN98120;REN98121;REN98122;REN98123;REN98124;REN98125;REN98126;REN98127;REN98128;REN98129;stSG610960;stSG610961 OTTHUMP00000069816;olfactory receptor 51Q1 APPROVED protein-coding ENSG00000167360 HGNC:14851 15003 VALIDATED 1352520 OR51T1 olfactory receptor, family 51, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5026849 5027913 + 4903049 4904113 + 4881819 4882883 + 6480464 14983052 401665 Q8NGJ9 AB065795;ABBA01028642;AC011711;AMYH02024249;BK004283;CH471064;NM_001004759 AAI56308;AAI72458;BAC06014;DAA04681;EAW68823;NP_001004759;Q8NGJ9 Hs.553804 1799398;1821800;1825840;2105048;2105050 ECD00550;ECD11986;ECD14028;stSG610591;stSG610592 OR11-26 OTTHUMP00000069319;olfactory receptor 51T1;olfactory receptor OR11-26 APPROVED protein-coding ENSG00000176900 HGNC:15205 17740 PROVISIONAL 1343262 OR51V1 olfactory receptor, family 51, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5339640 5340605 - 5220965 5221930 - 5199735 5200700 - 6480464;8554872 11121057;14983052 283111 Q9H2C8 ABBA01028649;AC104389;AF289203;AMYH02024254;BK004432;CH471064;NM_001004760 AAG42364;AAI56855;DAA04830;EAW68807;NP_001004760;Q9H2C8 Hs.553670 1801968;1802128;1802370;2052194;2052196;2052198;2052200;2052202;2052204;2052206;2052208;2052210;2052212;2052214;2052216;2052218;2052220;2105458;2105460 ECD01865;ECD01946;ECD02069;REN97254;REN97255;REN97256;REN97257;REN97258;REN97259;REN97260;REN97261;REN97262;REN97263;REN97264;REN97265;REN97266;REN97267;stSG610810;stSG610811 OR11-36;OR51A12 OTTHUMP00000069637;odorant receptor HOR3'beta1;olfactory receptor 51A12;olfactory receptor 51V1;olfactory receptor OR11-36 APPROVED protein-coding ENSG00000176742 HGNC:19597 17741 VALIDATED 1347151 OR51S1 olfactory receptor, family 51, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4993267 4994238 - 4869467 4870438 - 4848237 4849208 - 1580863;6480464;8554872 12477932;14983052 119692 Q8NGJ8 AB065796;ABBA01028642;AC011711;AC103710;AMYH02024249;BC136932;BC136934;BK004280;CH471064;CS248554;NM_001004758 AAI36933;AAI36935;BAC06015;CAJ56794;DAA04678;EAW68825;NP_001004758;Q8NGJ8 Hs.553561 1812442;1813232;1842052;1858660;2105016;2105018;2219332 ECD07228;ECD07636;ECD22229;ECD24531;OR51S1__5870;stSG610573;stSG610574 OR11-24 OTTHUMP00000069318;olfactory receptor 51S1;olfactory receptor OR11-24 APPROVED protein-coding ENSG00000176922 HGNC:15204 17739 PROVISIONAL 1342762 OR52A1 olfactory receptor, family 52, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 5287805 5288743 - 5172661 5173599 - 5151431 5152369 - 1580863;6480464;8554872 10512676;11121057;12477932;14983052;15489334;18976975;20201926 23538 Q9UKL2 ABBA01028645;AC129505;AF154673;AF289204;AMYH02024252;BC111691;BC111722;BK004431;CH471064;NG_027733;NM_012375 AAD51279;AAG42367;AAI11723;AAI40284;DAA04829;EAW68808;NP_036507;Q9UKL2 Hs.553520 1801500;1804496;1804572;2051846;2051848;2051850;2051852;2051854;2051856;2051858;2051860;2051862;2051864;2051866;2051868;2051870;2051872;2105416;2105418;5492585 ECD01626;ECD03177;ECD03217;REN97076;REN97077;REN97078;REN97079;REN97080;REN97081;REN97082;REN97083;REN97084;REN97085;REN97086;REN97087;REN97088;REN97089;UniSTS:481720;stSG610785;stSG610786 HPFH1OR OTTHUMP00000069570;odorant receptor HOR3'beta4;olfactory receptor 52A1;olfactory receptor OR11-319 APPROVED protein-coding ENSG00000182070 HGNC:8318 17742 VALIDATED 1346805 OR51I2 olfactory receptor, family 51, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5593120 5594189 + 5474638 5475707 + 5453408 5454477 + 6480464;8554872 10220430;11121057;12477932;14983052;23406172 390064 Q9H344 ABBA01028651;AC087380;AF137396;AMYH02024256;BC140730;BK004381;CH471064;CS248486;NM_001004754 AAG41678;AAI40731;CAJ56760;DAA04779;EAW68793;NP_001004754;Q9H344 Hs.553733 1814620;1814688;1822298;1826688;2054182;2054184;2054186;2054188;2054190;2054192;2054194;2054196;2054198;2054200;2054202;2054204;2054206;2105778;2105780;2108855 ECD08340;ECD08375;ECD12237;ECD14458;OR51I2__5866.2;REN98253;REN98254;REN98255;REN98256;REN98257;REN98258;REN98259;REN98260;REN98261;REN98262;REN98263;REN98264;REN98265;stSG610984;stSG610985 OR11-38 HOR5'Beta12;OTTHUMP00000069821;odorant receptor HOR5'beta12;olfactory receptor 51I2;olfactory receptor OR11-38 APPROVED protein-coding ENSG00000187918 HGNC:15201 15000 VALIDATED 1348903 OR52B1P olfactory receptor, family 52, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6292337 6293291 - 6172825 6173779 - 6151595 6152549 - 81274 Q8NGM6 ABBA01028662;AC022762;AMYH02024264;NG_004225 APPROVED pseudo HGNC:15206 INFERRED 1350318 OR52B3P olfactory receptor, family 52, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4523712 4524654 + 4399512 4400454 + 4378282 4379224 + 387747 ABBA01028638;AC009758;AMYH02024238;NG_004311 APPROVED pseudo HGNC:15208 INFERRED 1316140 OR52B4 olfactory receptor, family 52, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4512675 4513798 - 4388493 4389616 - 4367263 4368386 - 1580863;6480464;8554872 12477932;14983052;20677014 143496 Q8NGK2 AB065792;ABBA01028638;AC009758;AMYH02024238;BC140928;BK004256;CH471064;NM_001005161 AAI40929;BAC06011;DAA04654;EAW68847;NP_001005161;Q8NGK2 Hs.447463 2219338 OR52B4__5876 OR11-3 OTTHUMP00000205331;olfactory receptor 52B4;olfactory receptor OR11-3 APPROVED protein-coding ENSG00000221996;ENSG00000280253 HGNC:15209 15007 VALIDATED 1350679 OR51R1P olfactory receptor, family 51, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4563489 4564437 + 4439290 4440238 + 4418060 4419008 + 390034 ABBA01028639;AC009758;AMYH02024240;NG_004318 APPROVED pseudo HGNC:15203 INFERRED 1351225 OR52B6 olfactory receptor, family 52, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5720726 5721733 + 5602107 5603114 + 5580877 5581884 + 6480464;8554872 14983052 340980 Q8NGF0 AB065858;ABBA01028652;AC015691;AMYH02024259;BK004275;NM_001005162 BAC06076;DAA04673;NP_001005162;Q8NGF0 Hs.553704 1800856;1838208;1844800;2055236;2055238;2055240;2055242;2055244;2055246;2055248;2055250;2055252;2055254;2055256;2055258;2105958;2105960 ECD01293;ECD20276;ECD23616;REN98782;REN98783;REN98784;REN98785;REN98786;REN98787;REN98788;REN98789;REN98790;REN98791;REN98792;REN98793;stSG611077;stSG611078 OR11-47 OTTHUMP00000069827;olfactory receptor 52B6;olfactory receptor OR11-47 APPROVED protein-coding ENSG00000187747 HGNC:15211 17743 VALIDATED 1347309 OR52B2 olfactory receptor, family 52, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6310097 6311068 - 6190585 6191556 - 6169355 6170326 - 6480464 12213199;12477932;14983052 255725 Q8NG91;Q96RD2 AB065763;AB065939;ABBA01028662;AC022762;AF399505;AMYH02024264;BC136732;BC136733;BK004324;CH471064;CS248472;NM_001004052 AAI36733;AAI36734;AAK94990;BAC05983;BAC06154;CAJ56756;DAA04722;EAW68744;NP_001004052;Q96RD2 Hs.690457 2219336 OR52B2__5875 OR11-70 OTTHUMP00000230843;olfactory receptor 52B2;olfactory receptor OR11-70 APPROVED protein-coding ENSG00000255307 HGNC:15207 15006 PROVISIONAL 1350568 OR52B5P olfactory receptor, family 52, subfamily B, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5700799 5701743 + 5582197 5583141 + 5560967 5561911 + 81270 ABBA01028652;AC015691;AMYH02024258;NG_004224 1812748;1813324;1819516;1821944;2055066;2055068;2055070;2055072;2055074;2055076;2055078;2055080;2055082;2055084;2055086;2055088;2055090;2055092;2105934;2105936 ECD07385;ECD07683;ECD10825;ECD12058;REN98695;REN98696;REN98697;REN98698;REN98699;REN98700;REN98701;REN98702;REN98703;REN98704;REN98705;REN98706;REN98707;REN98708;stSG611063;stSG611064 APPROVED pseudo HGNC:15210 INFERRED 1347125 OR52A4 olfactory receptor, family 52, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. Although originally considered to be a functional olfactory receptor, this family member is now considered to be pseudogene due to the presence of a C-terminal frameshift compared to other family members; this is also consistent with the Classifier for Olfactory Receptor Pseudogenes (CORP), as described in PMID:16939646. [provided by RefSeq, Jun 2011] 11 11 11 p15.4 5256998 5257996 - 5141894 5142808 - 5120664 5121578 - 12477932;16939646 390053 A6NMU1 ABBA01028644;AC113331;AMYH02024252;BC140752;NG_029079 A6NMU1;AAI40753 Hs.553729 1798692;1801866;1824876;2051578;2051580;2051582;2051584;2051586;2051588;2051590;2051592;2051594;2051596;2051598;2051600;2051602;2051604;2051606;2105378;2105380 ECD00186;ECD01814;ECD13537;REN96942;REN96943;REN96944;REN96945;REN96946;REN96947;REN96948;REN96949;REN96950;REN96951;REN96952;REN96953;REN96954;REN96955;REN96956;stSG610762;stSG610763 putative olfactory receptor 52A4 APPROVED pseudo HGNC:19579 15004 INFERRED 1346155 OR52E3P olfactory receptor, family 52, subfamily E, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5228870 5229844 + 5113906 5114880 + 5092676 5093650 + 79533 ABBA01028643;AC020597;AC113331;AMYH02024251;NG_002269 1813394;1817732;1831210;1834938;2051306;2051308;2051310;2051312;2051314;2051316;2051318;2051320;2051322;2051324;2051326;2051328;2051330;2051332;2051334;2105342;2105344 ECD07718;ECD09919;ECD16741;ECD18620;REN96806;REN96807;REN96808;REN96809;REN96810;REN96811;REN96812;REN96813;REN96814;REN96815;REN96816;REN96817;REN96818;REN96819;REN96820;stSG610743;stSG610744 APPROVED pseudo HGNC:14793 INFERRED 1346521 OR52E1 olfactory receptor, family 52, subfamily E, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5205905 5207030 + 5090702 5091826 + 5069472 5070596 + 6480464 79296 Q8NGJ3 AB065801;ABBA01028642;AC020597;AC113331;AMYH02024251;NG_003197 BAC06020;Q8NGJ3 1803462;1806622;1809318;1840660;2051096;2051098;2051100;2051102;2051104;2051106;2051108;2051110;2051112;2051114;2051116;2051118;2051120;2051122;2051124;2105310;2105312 ECD02628;ECD04268;ECD05650;ECD21520;REN96701;REN96702;REN96703;REN96704;REN96705;REN96706;REN96707;REN96708;REN96709;REN96710;REN96711;REN96712;REN96713;REN96714;REN96715;stSG610726;stSG610727 OR52E1P olfactory receptor, family 52, subfamily e, member 1 gene/pseudogene APPROVED pseudo HGNC:14766 INFERRED 1344467 OR52A5 olfactory receptor, family 52, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5268072 5269022 - 5152922 5153872 - 5131692 5132642 - 6480464;8554872 11121057;14983052 390054 Q9H2C5 ABBA01028645;AC129505;AF289204;AMYH02024252;AY726590;BK004433;CH471064;NM_001005160 AAG42368;AAI41495;DAA04831;EAW68809;NP_001005160;Q9H2C5 Hs.546593 1805718;1830062;1832072;1846404;2051680;2051682;2051684;2051686;2051688;2051690;2051692;2051694;2051696;2051698;2051700;2051702;2051704;2051706;2105394;2219334 ECD03809;ECD16164;ECD17174;ECD24422;OR52A5__5874;REN96993;REN96994;REN96995;REN96996;REN96997;REN96998;REN96999;REN97000;REN97001;REN97002;REN97003;REN97004;REN97005;REN97006;stSG610771 OR11-33 OTTHUMP00000069575;odorant receptor HOR3'beta5;olfactory receptor 52A5;olfactory receptor OR11-33 APPROVED protein-coding ENSG00000171944 HGNC:19580 15005 VALIDATED 1347048 OR52E2 olfactory receptor, family 52, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5195088 5196065 - 5079880 5080857 - 5058650 5059627 - 1580863;6480464;8554872 14983052 119678 Q8NGJ4 AB065800;ABBA01028642;AC113331;AMYH02024251;CH471064;NM_001005164 BAC06019;EAW68812;NP_001005164;Q8NGJ4 Hs.553557 1799914;1801966;1841570;2051014;2051016;2051018;2051020;2051022;2051024;2051026;2051028;2051030;2051032;2051034;2051036;2051038;2051040;2051042;2051324;2105296;2105298 ECD00811;ECD01864;ECD21982;REN96660;REN96661;REN96662;REN96663;REN96664;REN96665;REN96666;REN96667;REN96668;REN96669;REN96670;REN96671;REN96672;REN96673;REN96674;REN96815;stSG610718;stSG610719 OTTHUMP00000069572;olfactory receptor 52E2;olfactory receptor, family 10, subfamily AC, member 1 pseudogene APPROVED protein-coding ENSG00000176787 HGNC:14769 15009 VALIDATED 1353810 OR52E4 olfactory receptor, family 52, subfamily E, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6025085 6026023 + 5905523 5906461 + 5884293 5885231 + 1580863;6480464;8554872 12477932;14983052 390081 Q8NGH9 AB065817;ABBA01028657;AC131574;AMYH02024264;BC136972;BC136974;BK004302;CH471064;CS248466;NM_001005165 AAI36973;AAI36975;BAC06036;CAJ56753;DAA04700;EAW68756;NP_001005165;Q8NGH9 Hs.553739 2219342 OR52E4__5880 OR11-55 OTTHUMP00000239504;olfactory receptor 52E4;olfactory receptor OR11-55 APPROVED protein-coding ENSG00000180974 HGNC:15213 15010 PROVISIONAL 1344092 OR52D1 olfactory receptor, family 52, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5628427 5629491 + 5509915 5510979 + 5488685 5489749 + 6480464;8554872 10220430;11121057;12477932;14983052;20677014 390066 Q9H346 ABBA01028651;AC087380;AF137396;AMYH02024256;BC136928;BC136930;BK004276;CH471064;CS248482;NM_001005163 AAG41676;AAI36929;AAI36931;CAJ56759;DAA04674;EAW68791;NP_001005163;Q9H346 Hs.553734 1806626;1807966;1808806;2054426;2054428;2054430;2054432;2054434;2054436;2054438;2054440;2054442;2054444;2054446;2054448;2054450;2054452;2105818;2219340 ECD04270;ECD04961;ECD05386;OR52D1__5878;REN98375;REN98376;REN98377;REN98378;REN98379;REN98380;REN98381;REN98382;REN98383;REN98384;REN98385;REN98386;REN98387;REN98388;stSG611004 OR11-43 HOR 5'Beta14;OTTHUMP00000069815;odorant receptor HOR5'beta14;olfactory receptor 52D1;olfactory receptor OR11-43 APPROVED protein-coding ENSG00000181609 HGNC:15212 15008 VALIDATED 1344315 OR52E5 olfactory receptor, family 52, subfamily E, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6041578 6042726 + 5922007 5923155 + 5900777 5901925 + 1580863;6480464 14983052 390082 Q8NH55 AB065536;ABBA01028658;AC025016;AC131574;AMYH02024264;BK004566;NG_005911 BAC05782;Q8NH55 OR11-56 APPROVED pseudo HGNC:15214 15011 INFERRED 1352285 OR52E7P olfactory receptor, family 52, subfamily E, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6014260 6015188 + 5895190 5896118 + 5873960 5874888 + 81264 ABBA01028656;ABBA01028657;AC131574;AMYH02024264;NG_004223 APPROVED pseudo HGNC:15216 INFERRED 1343147 OR52E6 olfactory receptor, family 52, subfamily E, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5981160 5982101 - 5862186 5863127 - 5840956 5841897 - 1580863;6480464;8554872 12213199;14983052;20677014 390078 J3KPH0;Q96RD3 AB065815;ABBA01028656;AC131574;AF399504;AMYH02024263;BK004304;CH471064;CS248464;NM_001005167 AAK94989;BAC06034;CAJ56752;DAA04702;EAW68758;NP_001005167;Q96RD3 Hs.534693 OR11-58 OTTHUMP00000239502;olfactory receptor 52E6;olfactory receptor OR11-58 APPROVED protein-coding ENSG00000205409 HGNC:15215 15012 PROVISIONAL 1344719 OR52H1 olfactory receptor, family 52, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5684367 5685329 - 5565791 5566753 - 5544561 5545523 - 6480464 12477932;14983052 390067 Q8NGJ2 AB065802;ABBA01028652;AC087380;AMYH02024258;BC136998;BK004383;BK004682;CH471064;NM_001005289 AAI36999;BAC06021;DAA04781;EAW68787;NP_001005289;Q8NGJ2 Hs.554540 1812296;1812380;1827224;1832252;2054938;2054940;2054942;2054944;2054946;2054948;2054950;2054952;2054954;2054956;2054958;2054960;2054962;2105906;2105908;2105910;2219344 ECD07155;ECD07197;ECD14727;ECD17264;OR52H1__5884;REN98631;REN98632;REN98633;REN98634;REN98635;REN98636;REN98637;REN98638;REN98639;REN98640;REN98641;REN98642;REN98643;stSG611049;stSG611050;stSG611051 OR11-41;OR11-45 OTTHUMP00000069829;olfactory receptor 52H1;olfactory receptor OR11-41 pseudogene;olfactory receptor OR11-45 APPROVED protein-coding ENSG00000181616 HGNC:15218 15014 PROVISIONAL 1346583 OR52H2P olfactory receptor, family 52, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5691478 5692409 - 5572895 5573826 - 5551665 5552596 - 81261 ABBA01028652;AC087380;AMYH02024258;NG_004222 1803316;1806242;1835362;2054994;2054996;2054998;2055000;2055002;2055004;2055006;2055008;2055010;2055012;2055014;2055016;2055018;2055020;2055022;2105922;2105924 ECD02554;ECD04076;ECD18836;REN98659;REN98660;REN98661;REN98662;REN98663;REN98664;REN98665;REN98666;REN98667;REN98668;REN98669;REN98670;REN98671;REN98672;REN98673;stSG611057;stSG611058 APPROVED pseudo HGNC:15219 INFERRED 1349331 OR52I1 olfactory receptor, family 52, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4739475 4740449 + 4615269 4616243 + 4594039 4595013 + 1580863;8554872 12732197;14983052;19795399 390037 J3KQU7;Q8NGK6 AB065788;ABBA01028641;AC090719;AMYH02024244;BK004371;CH471064;CS248542;NM_001005169 AAI48541;AAI53132;BAC06007;CAJ56788;DAA04769;EAW68836;NP_001005169;Q8NGK6 Hs.553727 1707886;2219346 OR52I1__5885;SHGC-82187 OR11-13 OTTHUMP00000230827;olfactory receptor 52I1;olfactory receptor OR11-13 APPROVED protein-coding ENSG00000232268 HGNC:15220 15015 VALIDATED 1352778 OR52I2 olfactory receptor, family 52, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4732227 4733341 + 4608021 4609135 + 4586791 4587905 + 8554872 12477932;12732197;14983052 143502 Q8NH67 AB065522;ABBA01028641;AC090719;AMYH02024244;BC136921;BC151144;BK004264;CH471064;NM_001005170 AAI36922;AAI51145;BAC05770;DAA04662;EAW68837;NP_001005170;Q8NH67 Hs.553607 1707886 SHGC-82187 OR11-12 OTTHUMP00000230826;olfactory receptor 52I2;olfactory receptor OR11-12 APPROVED protein-coding ENSG00000226288 HGNC:15221 15016 VALIDATED 1342965 OR52J2P olfactory receptor, family 52, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5173331 5174493 + 5058146 5059304 + 5036916 5038074 + 79529 ABBA01028642;AC020597;AC113331;AMYH02024251;NG_002266 1723135;1808380;1812446;1813174;1814556;2050808;2050810;2050812;2050814;2050816;2050818;2050820;2050822;2050824;2050826;2050828;2050830;2050832;2050834;2050836;2050838;2105264;2105266 ECD05171;ECD07230;ECD07607;ECD08308;REN96557;REN96558;REN96559;REN96560;REN96561;REN96562;REN96563;REN96564;REN96565;REN96566;REN96567;REN96568;REN96569;REN96570;REN96571;REN96572;RH123751;stSG610702;stSG610703 OR52J4P APPROVED pseudo HGNC:14797 INFERRED 1345673 OR52K1 olfactory receptor, family 52, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4634302 4635331 + 4510109 4511138 + 4488879 4489908 + 1580863;6480464;8554872 12477932;14983052;22470424;23251661 390036 Q8NGK4 AB065790;ABBA01028640;AC010930;AMYH02024241;BC137056;BC137059;BK004257;CH471064;CS248452;NM_001005171 AAI37057;AAI37060;BAC06009;CAJ56746;DAA04655;EAW68842;NP_001005171;Q8NGK4 Hs.553726 1715121 RH119513 OR11-8 OTTHUMP00000230777;olfactory receptor 52K1;olfactory receptor OR11-8 APPROVED protein-coding ENSG00000196778 HGNC:15222 15018 VALIDATED 1353752 OR52J3 olfactory receptor, family 52, subfamily J, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5182954 5183889 + 5067756 5068691 + 5046526 5047461 + 1580863;6480464;8554872 14983052 119679 Q8NH60 AB065530;ABBA01028642;AC113331;AMYH02024251;BK004318;CH471064;CS248506;NM_001001916 BAC05777;CAJ56770;DAA04716;EAW68813;NP_001001916;Q8NH60 Hs.553558 1804444;1806128;1806950;1823130;2050896;2050898;2050900;2050902;2050904;2050906;2050908;2050910;2050912;2050914;2050916;2050918;2050920;2050922;2105274;2105276 ECD03146;ECD04018;ECD04440;ECD12653;REN96601;REN96602;REN96603;REN96604;REN96605;REN96606;REN96607;REN96608;REN96609;REN96610;REN96611;REN96612;REN96613;REN96614;stSG610707;stSG610708 OR11-32 OTTHUMP00000069568;olfactory receptor 52J3;olfactory receptor OR11-32 APPROVED protein-coding ENSG00000205495 HGNC:14799 15017 VALIDATED 1349972 OR52K2 olfactory receptor, family 52, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4594721 4595787 + 4470525 4471591 + 4449295 4450361 + 1580863;6480464;8554872 12477932;14983052 119774 Q8NGK3 AB065791;ABBA01028640;AC010930;AMYH02024240;BC137247;BC137248;BK004258;CH471064;CS248450;NM_001005172 AAI37248;AAI37249;BAC06010;CAJ56745;DAA04656;EAW68843;NP_001005172;Q8NGK3 Hs.553568 OR11-7 OTTHUMP00000230776;olfactory receptor 52K2;olfactory receptor OR11-7 APPROVED protein-coding ENSG00000181963 HGNC:15223 15019 VALIDATED 1350564 OR52K3P olfactory receptor, family 52, subfamily K, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4620237 4621183 + 4496040 4496986 + 4474810 4475756 + 1580863 22470424 390035 Q9Y347 ABBA01028640;AC010930;AF143328;AMYH02024241;NG_004319 AAD33911 Hs.162035 2186178 WI-11523 APPROVED pseudo HGNC:15224 INFERRED 1353890 OR52L2P olfactory receptor, family 52, subfamily L, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6198018 6199129 - 6078449 6079560 - 6057219 6058330 - 14983052 79274 Q8NGH6 AB065820;ABBA01028658;AC009642;AC111177;AMYH02024264;BK004254;NG_003195 BAC06039;DAA04652;Q8NGH6 OR52L2 APPROVED pseudo HGNC:14788 INFERRED 1345173 OR52M2P olfactory receptor, family 52, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4660368 4661347 - 4536175 4537154 - 4514945 4515924 - 338637 ABBA01028640;AC010930;AMYH02024241;NG_004305 OR52M4 APPROVED pseudo HGNC:15226 INFERRED 1352155 OR52L1 olfactory receptor, family 52, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6126700 6127793 - 6007122 6008215 - 5985892 5986985 - 12477932;12908129;14983052 338751 Q8NGH7 AB065819;ABBA01028658;AC009642;AC111177;AMYH02024264;AY284549;BC137343;BK004253;CH471064;CS248446;KF570259;NM_001005173 AAI37344;BAC06038;CAJ56743;DAA04651;EAW68750;NP_001005173;Q8NGH7 Hs.553703 OR11-50 OTTHUMP00000229560;olfactory receptor 52L1;olfactory receptor OR11-50 APPROVED protein-coding ENSG00000183313 HGNC:14785 17744 VALIDATED 1349652 OR52M1 olfactory receptor, family 52, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4690621 4691574 + 4566421 4567374 + 4545191 4546144 + 1580863;6480464;8554872 12644552;12732197;14983052;23251661 119772 Q8NGK5 AB065789;ABBA01028640;AC025249;AC090719;AF546574;AMYH02024244;BK004372;CH471064;NM_001004137 AAI46425;BAC06008;DAA04770;EAW68839;NP_001004137;Q8NGK5 Hs.553567 2219348 OR52M1__5890 OR11-11;OR52M1P;OR52M3P OTTHUMP00000230778;olfactory receptor 52M1;olfactory receptor OR11-11;olfactory receptor, family 52, subfamily M, member 1 pseudogene;olfactory receptor, family 52, subfamily M, member 3 pseudogene APPROVED protein-coding ENSG00000197790 HGNC:15225 15020 VALIDATED 1348757 OR52N1 olfactory receptor, family 52, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5928113 5929075 - 5809084 5810046 - 5787854 5788816 - 1580863;6480464;8554872 14983052 79473 Q8NH53 AB065538;ABBA01028656;AC131574;AMYH02024263;BK004306;CH471064;CS248460;NM_001001913 BAC05784;CAJ56750;DAA04704;EAW68761;NP_001001913;Q8NH53 Hs.690209 OR11-61 OTTHUMP00000239500;olfactory receptor 52N1;olfactory receptor OR11-61 APPROVED protein-coding ENSG00000181001 HGNC:14853 15021 PROVISIONAL 1346756 OR52N2 olfactory receptor, family 52, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5960538 5961503 + 5825018 5842572 + 5820336 5821301 + 1580863;6480464;8554872 12477932;14983052 390077 Q8NGI0 AB065816;ABBA01028656;AC131574;AMYH02024263;BC140732;BK004303;CH471064;CS248456;NM_001005174 AAI40733;BAC06035;CAJ56748;DAA04701;EAW68759;NP_001005174;Q8NGI0 Hs.553737 OR11-57 OTTHUMP00000239501;olfactory receptor 52N2;olfactory receptor OR11-57 APPROVED protein-coding ENSG00000180988 HGNC:15228 17745 PROVISIONAL 1349859 OR52E8 olfactory receptor, family 52, subfamily E, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5997069 5998022 - 5877979 5878932 - 5856749 5857702 - 6480464;8554872 12477932;14983052;16554811 390079 Q6IFG1 ABBA01028656;AC131574;AMYH02024264;BC137030;BC137041;BK004301;CH471064;CS248468;NM_001005168 AAI37031;AAI37042;CAJ56754;DAA04699;EAW68757;NP_001005168;Q6IFG1 Hs.553738 OR11-54 OTTHUMP00000239503;olfactory receptor 52E8;olfactory receptor OR11-54;olfactory receptor, family 52, subfamily E, member 8 pseudogene APPROVED protein-coding ENSG00000183269 HGNC:15217 15013 PROVISIONAL 1347746 OR52N3P olfactory receptor, family 52, subfamily N, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5940616 5941573 + 5821594 5822551 + 5800364 5801321 + 14983052 81251 ABBA01028656;AC131574;AMYH02024263;BK004567;NG_004221 OR11-60 APPROVED pseudo HGNC:15229 INFERRED 1351984 OR52J1P olfactory receptor, family 52, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5240419 5241288 + 5125454 5126323 + 5104224 5105093 + 79302 ABBA01028643;AC113331;AMYH02024251;NG_002234 1804494;1805272;1829774;2051412;2051414;2051416;2051418;2051420;2051422;2051424;2051426;2051428;2051430;2051432;2051434;2051436;2051438;2051440;2105364 ECD03176;ECD03582;ECD16019;REN96859;REN96860;REN96861;REN96862;REN96863;REN96864;REN96865;REN96866;REN96867;REN96868;REN96869;REN96870;REN96871;REN96872;REN96873;stSG610754 APPROVED pseudo HGNC:14760 INFERRED 1347388 OR52N5 olfactory receptor, family 52, subfamily N, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5917897 5918930 - 5798864 5799897 - 5777634 5778667 - 1580863;6480464;8554872 12477932;14983052 390075 Q8NH56 AB065535;ABBA01028656;AC131574;AMYH02024263;BC136979;BC136981;BK004300;CH471064;NM_001001922 AAI36980;AAI36982;BAC05781;DAA04698;EAW68762;NP_001001922;Q8NH56 Hs.690207 2056866;2056868;2056870;2056872;2056874;2056876;2056878;2056880;2056882;2056884;2056886;2056888;2056890;2056892;2056894 REN99598;REN99599;REN99600;REN99601;REN99602;REN99603;REN99604;REN99605;REN99606;REN99607;REN99608;REN99609;REN99610;REN99611;REN99612 OR11-62;OR52N5Q OTTHUMP00000239499;olfactory receptor 52N5;olfactory receptor OR11-62 APPROVED protein-coding ENSG00000181009 HGNC:15231 15023 VALIDATED 1352153 OR52N4 olfactory receptor, family 52, subfamily N, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5894984 5896020 + 5757228 5777162 + 5735998 5755932 + 1580863;6480464;8554872 12477932;14983052 390072 Q8NGI2 AB065813;ABBA01028656;AC131574;AMYH02024263;BC137035;BC137036;BK004385;CH471064;CS248494;NM_001005175;XM_005252912;XM_005252913 AAI37036;AAI37037;BAC06032;CAJ56764;DAA04783;EAW68764;NP_001005175;Q8NGI2;XP_005252969;XP_005252970 Hs.553735 1819848;2056642;2056644;2056646;2056648;2056650;2056652;2056654;2056656;2056658;2056660;2056662;2056664;2056666;2056668;2219350 ECD10994;OR52N4__5892;REN99486;REN99487;REN99488;REN99489;REN99490;REN99491;REN99492;REN99493;REN99494;REN99495;REN99496;REN99497;REN99498;REN99499 OR11-64 OTTHUMP00000069807;olfactory receptor 52N4;olfactory receptor OR11-64 APPROVED protein-coding ENSG00000181074 HGNC:15230 15022 VALIDATED 1353916 OR52Q1P olfactory receptor, family 52, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6044438 6045281 + 5924866 5925709 + 5903636 5904479 + 81246 ABBA01028658;AC025016;AMYH02024264;NG_004219 APPROVED pseudo HGNC:15234 INFERRED 1353085 OR52P2P olfactory receptor, family 52, subfamily P, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4576760 4577656 - 4452562 4453458 - 4431332 4432228 - 119775 ABBA01028639;AC009758;AMYH02024240;NG_004282 APPROVED pseudo HGNC:15233 INFERRED 1354346 OR52R1 olfactory receptor, family 52, subfamily R, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4948451 4949398 - 4824663 4825610 - 4803433 4804380 - 6480464;8554872 14983052 119695 Q8NGF1 AB065857;ABBA01028642;AC103710;AMYH02024247;BK004282;CH471064;NM_001005177 BAC06075;DAA04680;EAW68827;NP_001005177;Q8NGF1 Hs.553563 1798654;1831510;1839860;2104958;2104960 ECD00167;ECD16892;ECD21113;stSG610543;stSG610544 OR11-22 OTTHUMP00000069321;olfactory receptor 52R1;olfactory receptor OR11-22 APPROVED protein-coding ENSG00000176937;ENSG00000279270 HGNC:15235 15024 VALIDATED 1353465 OR52S1P olfactory receptor, family 52, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5212548 5213502 - 5097342 5098296 - 5076112 5077066 - 79521 ABBA01028643;AC020597;AC113331;AMYH02024251;NG_002262 1804278;1825440;1830198;2051168;2051170;2051172;2051174;2051176;2051178;2051180;2051182;2051184;2051186;2051188;2051190;2051192;2051194;2051196;2105322;2105324;2105326 ECD03063;ECD13827;ECD16232;REN96737;REN96738;REN96739;REN96740;REN96741;REN96742;REN96743;REN96744;REN96745;REN96746;REN96747;REN96748;REN96749;REN96750;REN96751;stSG610732;stSG610733;stSG610734 APPROVED pseudo HGNC:14805 INFERRED 1348721 OR52T1P olfactory receptor, family 52, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5706488 5707466 - 5587880 5588845 - 5566650 5567615 - 81244 ABBA01028652;AC015691;AMYH02024258;NG_004218 1813100;1814046;1814776;1842120;2055130;2055132;2055134;2055136;2055138;2055140;2055142;2055144;2055146;2055148;2055150;2055152;2055154;2055156;2055158;2105944;2105946 ECD07569;ECD08051;ECD08419;ECD22263;REN98727;REN98728;REN98729;REN98730;REN98731;REN98732;REN98733;REN98734;REN98735;REN98736;REN98737;REN98738;REN98739;REN98740;REN98741;stSG611069;stSG611070 APPROVED pseudo HGNC:15236 INFERRED 1343178 OR52V1P olfactory receptor, family 52, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5667033 5667936 - 5548453 5549356 - 5527223 5528126 - 81242 ABBA01028652;AC087380;AMYH02024257;NG_004216 1807968;1808808;1827400;1830668;2054780;2054782;2054784;2054786;2054788;2054790;2054792;2054794;2054796;2054798;2054800;2054802;2054804;2054806;2054808;2105880;2105882;2105884 ECD04962;ECD05387;ECD14816;ECD16470;REN98552;REN98553;REN98554;REN98555;REN98556;REN98557;REN98558;REN98559;REN98560;REN98561;REN98562;REN98563;REN98564;REN98565;REN98566;stSG611035;stSG611036;stSG611037 APPROVED pseudo HGNC:15238 INFERRED 1346460 OR52Y1P olfactory receptor, family 52, subfamily Y, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4938791 4939284 - 4814998 4815491 - 4793768 4794261 - 81240 ABBA01028642;AC103710;AMYH02024247;NG_004215 1798532;1815540;1840792;2104948 ECD00104;ECD08806;ECD21587;stSG610538 OR52Y2P APPROVED pseudo HGNC:15240 INFERRED 1353462 OR52W1 olfactory receptor, family 52, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6339538 6340500 + 6220454 6221416 + 6199224 6200186 + 1580863;6480464 12477932;14983052;16554811 120787 Q6IF63 AB065511;ABBA01028663;AC022762;AMYH02024265;BC137225;BK004399;CH471064;CS248474;NM_001005178 AAI37226;BAC05759;CAJ56865;DAA04797;EAW68742;NP_001005178;Q6IF63 Hs.553570 2110619 OR52W1__5894 OR11-71;OR52W1P OTTHUMP00000229563;olfactory receptor 52W1;olfactory receptor OR11-71;olfactory receptor, family 52, subfamily W, member 1 pseudogene APPROVED protein-coding ENSG00000175485 HGNC:15239 15025 PROVISIONAL 1345989 OR52X1P olfactory receptor, family 52, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6207510 6208689 - 6087943 6089122 - 6066713 6067892 - 79272 ABBA01028658;AC009642;AC111177;AMYH02024264;NG_002220 APPROVED pseudo HGNC:14790 INFERRED 1346171 OR52P1P olfactory receptor, family 52, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5866800 5867762 + 5747731 5748690 + 5726501 5727460 + 6480464 14983052 81248 Q8NH57 AB065534;ABBA01028655;AC109341;AMYH02024263;BK004746;NG_004220 Q8NH57 1805470;1806762;1808030;1809254;2056386;2056388;2056390;2056392;2056394;2056396;2056398;2056400;2056402;2056404;2056406;2056408;2056410;2056412;2056414;2191860;2191862 ECD03683;ECD04339;ECD04993;ECD05617;REN99358;REN99359;REN99360;REN99361;REN99362;REN99363;REN99364;REN99365;REN99366;REN99367;REN99368;REN99369;REN99370;REN99371;REN99372;stSG611181;stSG611182 OR11-66;OR52P1 APPROVED pseudo HGNC:15232 INFERRED 1345158 OR52U1P olfactory receptor, family 52, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5859592 5860568 + 5740520 5741496 + 5719290 5720266 + 81243 ABBA01028655;AC109341;AMYH02024263;NG_004217 1811630;1816628;1821328;2056326;2056328;2056330;2056332;2056334;2056336;2056338;2056340;2056342;2056344;2056346;2056348;2056350;2056352;2191850;2191852 ECD06818;ECD09357;ECD11747;REN99328;REN99329;REN99330;REN99331;REN99332;REN99333;REN99334;REN99335;REN99336;REN99337;REN99338;REN99339;REN99340;REN99341;stSG611175;stSG611176 APPROVED pseudo HGNC:15237 INFERRED 1351783 OR52Z1 olfactory receptor, family 52, subfamily Z, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5317607 5318502 - 5198951 5199841 - 5177721 5178611 - 6480464 11121057;16554811;17973576 283110 P0C646;Q9H2C7 ABBA01028647;AC129505;AMYH02024253;NG_004304 P0C646 1802028;1841448;2052040;2052042;2052044;2052046;2052048;2052050;2052052;2052054;2052056;2052058;2052060;2052062;2052064;2105440;2105442 ECD01895;ECD21920;REN97177;REN97178;REN97179;REN97180;REN97181;REN97182;REN97183;REN97184;REN97185;REN97186;REN97187;REN97188;REN97189;stSG610797;stSG610798 OR52Z1P APPROVED pseudo HGNC:19596 INFERRED 1347049 OR55B1P olfactory receptor, family 55, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4172137 4173116 - 4167545 4168524 - 4146315 4147294 - 390030 ABBA01032035;AC015689;AMYH02024237;NG_004317;NG_027992 OR55B2P;OR55C1P APPROVED pseudo HGNC:15241 INFERRED 1351120 OR56A3 olfactory receptor, family 56, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6088148 6089095 + 5968577 5969524 + 5947347 5948294 + 1580863;6480464;8554872 14983052 390083 Q8NH54 AB065537;ABBA01028658;AC009642;AC025016;AMYH02024264;BK004305;CS248462;NM_001003443 BAC05783;CAJ56751;DAA04703;NP_001003443;Q8NH54 Hs.553741 OR56A2P;OR56A3P;OR56A6 OTTHUMP00000229559;olfactory receptor 56A3;olfactory receptor 56A6;olfactory receptor OR11-51;olfactory receptor, family 56, subfamily A, member 2 pseudogene;olfactory receptor, family 56, subfamily A, member 3 pseudogene;olfactory receptor, family 56, subfamily A, member 6 APPROVED protein-coding ENSG00000184478 HGNC:14786 17747 PROVISIONAL 1347825 OR56A4 olfactory receptor, family 56, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6142864 6143961 - 6023281 6024378 - 6002051 6003148 - 6480464;8554872 12477932;14983052 120793 Q6IFK7;Q8NGH8 AB065818;ABBA01028658;AC009642;AC111177;AMYH02024264;BC136986;BK004255;CH471064;NM_001005179 AAI36987;BAC06037;DAA04653;EAW68749;NP_001005179;Q8NGH8 Hs.553571 1657233;1695558;1723103;2219352 D11S2415;OR56A4__5896;RH123738;SHGC-68742 OR11-49 OTTHUMP00000229561;olfactory receptor 56A4;olfactory receptor OR11-49 APPROVED protein-coding ENSG00000183389 HGNC:14791 15026 PROVISIONAL 1349253 OR56A1 olfactory receptor, family 56, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6167475 6168545 - 6047901 6048971 - 6026671 6027741 - 6480464 12477932;14983052 120796 Q8NGH5 AB065821;ABBA01028658;AC111177;AMYH02024264;BC136904;BC136911;BK004252;CH471064;CS248444;NM_001001917 AAI36905;AAI36912;BAC06040;CAJ56742;DAA04650;EAW68748;NP_001001917;Q8NGH5 Hs.553543 OR11-75 OTTHUMP00000229562;olfactory receptor 56A1;olfactory receptor OR11-75 APPROVED protein-coding ENSG00000180934 HGNC:14781 17746 VALIDATED 1350527 OR56A7P olfactory receptor, family 56, subfamily A, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6186606 6187543 - 6067039 6067976 - 6045809 6046746 - 81236 ABBA01028658;AC111177;AMYH02024264;NG_004214 APPROVED pseudo HGNC:15244 INFERRED 1344603 OR56A5 olfactory receptor, family 56, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2009] 11 11 11 p15.4 6108360 6109301 - 5988783 5989724 - 5967553 5968494 - 6480464 16554811 390084 P0C7T3 ABBA01028658;AC009642;AC025016;AMYH02024264;NM_001146033 NP_001139505;P0C7T3 Hs.719888 OR56A5P olfactory receptor 56A5;olfactory receptor, family 56, subfamily A, member 5 pseudogene APPROVED protein-coding ENSG00000188691 HGNC:14792 VALIDATED 1348024 OR56B2P olfactory receptor, family 56, subfamily B, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5905424 5906308 + 5786391 5787275 + 5765161 5766045 + 6480464 14983052 390073 Q6IF78;Q8NGI1 AB065814;ABBA01028656;AC131574;AMYH02024263;BK004384;NG_004326 BAC06033;DAA04782;Q8NGI1 2056736;2056738;2056740;2056742;2056744;2056746;2056748;2056750;2056752;2056754;2056756;2056758;2056760;2056762;2056764 REN99533;REN99534;REN99535;REN99536;REN99537;REN99538;REN99539;REN99540;REN99541;REN99542;REN99543;REN99544;REN99545;REN99546;REN99547 OR11-63;OR56B2 APPROVED pseudo HGNC:15246 INFERRED 1353339 OR56B3P olfactory receptor, family 56, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6269343 6270286 + 6149840 6150783 + 6128610 6129553 + 6480464 401675 Q8NH77 ABBA01028661;AC111177;AMYH02024264;NG_004390 APPROVED pseudo HGNC:15247 INFERRED 1347435 OR56B1 olfactory receptor, family 56, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5876826 5877800 + 5757678 5758768 + 5736448 5737538 + 1580863;6480464;8554872 12477932;14983052;17567994 387748 Q8NGI3 AB065812;ABBA01028655;AC131574;AK122668;AMYH02024263;BC137184;BC137185;BK004386;CH471064;CS248498;NM_001005180 AAI37185;AAI37186;BAC06031;BAG53654;CAJ56766;DAA04784;EAW68765;NP_001005180;Q8NGI3 Hs.689609 1808178;1808960;1816292;1840588;2056474;2056476;2056478;2056480;2056482;2056484;2056486;2056488;2056490;2056492;2056494;2056496;2056498;2056500;2056502;2056504;2145430;2191876;2191878 ECD05070;ECD05463;ECD09188;ECD21484;REN99402;REN99403;REN99404;REN99405;REN99406;REN99407;REN99408;REN99409;REN99410;REN99411;REN99412;REN99413;REN99414;REN99415;REN99416;REN99417;SHGC-14206;stSG611189;stSG611190 OR11-65;OR56B1P OTTHUMP00000069808;olfactory receptor 56B1;olfactory receptor OR11-65;olfactory receptor, family 56, subfamily B, member 1 pseudogene APPROVED protein-coding ENSG00000181023 HGNC:15245 17748 VALIDATED 1342645 OR5AC1 olfactory receptor, family 5, subfamily AC, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q11.2 96172677 96173598 + 97783315 97784236 + 98064471 98065392 + 6480464 14983052;17973576 81431 P0C628 ABBA01026938;AC024892;AMYH02007285;NG_004267 P0C628 OR5AC1P APPROVED pseudo HGNC:15047 INFERRED 1343346 OR5AC4P olfactory receptor, family 5, subfamily AC, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q11.2 96214227 96214794 + 97823598 97824513 + 98104754 98105669 + 403271 ABBA01026938;AC117460;AMYH02007285;NG_004426 APPROVED pseudo HGNC:31284 INFERRED 1349600 OR5A2 olfactory receptor, family 5, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56550732 56551706 - 59189452 59190426 - 59421979 59422953 - 1580863;6480464;8554872 12213199;12477932;14983052 219981 Q8NGI9 AB065805;ABBA01021501;AF399529;AMYH02024863;AP003778;BC136991;BK004308;CH471076;CS248276;NM_001001954 AAI36992;AAK95014;BAC06024;CAJ56661;DAA04706;EAW73843;NP_001001954;Q8NGI9 Hs.553648 OTTHUMP00000235905;olfactory receptor 5A2;olfactory receptor OR11-248 APPROVED protein-coding ENSG00000172324 HGNC:15249 15029 PROVISIONAL 1349503 OR5AC2 olfactory receptor, family 5, subfamily AC, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96196637 96197566 + 97806017 97806946 + 98087173 98088102 + 1580863;6480464;8554872 10706615;16641997 81050 Q9NZP5 ABBA01026938;AC133439;AF179759;AMYH02007285;CH471052;NM_054106 AAF40348;AAI48626;AAI53190;EAW79870;NP_473447;Q9NZP5 Hs.554715 HSA1 OTTHUMP00000217457;olfactory receptor 5AC2 APPROVED protein-coding ENSG00000196578 HGNC:15431 15030 PROVISIONAL 1344757 OR5AH1P olfactory receptor, family 5, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 54314345 54314713 + 57272233 57272601 + 56760865 56761233 + 79336 ABBA01020829;AC006115;AMYH02036500;NG_002357 APPROVED pseudo HGNC:14714 INFERRED 1344070 OR5AK1P olfactory receptor, family 5, subfamily AK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54144545 54145472 + 56785567 56786494 + 57018092 57019019 + 81230 ABBA01021467;AMYH02024836;AP002826;NG_004213 OR5AK5P APPROVED pseudo HGNC:15250 INFERRED 1348283 OR5AK2 olfactory receptor, family 5, subfamily AK, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54115370 54116299 + 56756389 56757318 + 56988914 56989843 + 1580863;6480464;8554872 12477932;14983052 390181 Q8NH90 AB065496;ABBA01021467;AMYH02024836;AP002826;BC137198;CH471076;NM_001005323 AAI37199;BAC05747;EAW73728;NP_001005323;Q8NH90 Hs.554520 OTTHUMP00000234762;olfactory receptor 5AK2 APPROVED protein-coding ENSG00000181273 HGNC:15251 15031 PROVISIONAL 1350661 OR5AK4P olfactory receptor, family 5, subfamily AK, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54163971 54164897 + 56805009 56805935 + 57037534 57038460 + 6480464 11705801;12908129 219525 ABBA01021467;AF309700;AF309701;AMYH02024837;AP001521;AY284037;NR_036445 Hs.554519 PJCG3 APPROVED pseudo HGNC:15253 PROVISIONAL 1342502 OR5AL1 olfactory receptor, family 5, subfamily AL, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53527853 53528837 + 56180173 56181157 + 56412697 56413681 + 12213199;12730696;14983052 79482 P0C617 ABBA01021463;AMYH02024832;AP002512;NG_004144 P0C617 OR5AL1P APPROVED pseudo HGNC:14844 INFERRED 1354277 OR5A1 olfactory receptor, family 5, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56571922 56572869 + 59210642 59211589 + 59443169 59444116 + 1580863;6480464 12213199;12477932;14983052 219982 Q8NGJ0 AB065804;ABBA01021501;AC019093;AC069371;AF399528;AMYH02024863;AP003778;BC137060;BC137061;BK004310;CH471076;CS248278;NM_001004728 AAI37061;AAI37062;AAK95013;BAC06023;CAJ56662;DAA04708;EAW73844;NP_001004728;Q8NGJ0 Hs.553649 2219354 OR5A1__5899 OR11-249;OR5A1P;OST181 OTTHUMP00000235745;olfactory receptor 5A1;olfactory receptor OR11-249;olfactory receptor, family 5, subfamily A, member 1 pseudogene APPROVED protein-coding ENSG00000172320 HGNC:8319 15028 PROVISIONAL 1349496 OR5AN1 olfactory receptor, family 5, subfamily AN, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56493212 56494147 + 59131932 59132867 + 59364459 59365394 + 1580863;6480464 12477932;14983052;24361078 390195 Q8NGI8 AB065806;ABBA01021501;AMYH02024863;AP002780;BC140917;BK004508;CH471076;CS248368;NM_001004729 AAI40918;BAC06025;CAJ56704;DAA04906;EAW73842;NP_001004729;Q8NGI8 Hs.553755 OR11-244 OTTHUMP00000235744;muscone receptor;olfactory receptor 5AN1;olfactory receptor OR11-244 APPROVED protein-coding ENSG00000176495 HGNC:15255 15032 615702 PROVISIONAL 1348056 OR5AO1P olfactory receptor, family 5, subfamily AO, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q 54171517 54171847 + 56812555 56812885 + 57045080 57045410 + 403272 ABBA01021467;AP001521;NG_004427 APPROVED pseudo HGNC:31285 INFERRED 1348653 OR56B4 olfactory receptor, family 56, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6248512 6249471 + 6129009 6129968 + 6107779 6108738 + 1580863;6480464;8554872 12477932;14983052 196335 Q8NH76 AB065513;ABBA01028661;AC111177;AMYH02024264;BC136879;BC136880;BK004325;CH471064;CS248476;NM_001005181 AAI36880;AAI36881;BAC05761;CAJ56757;DAA04723;EAW68746;NP_001005181;Q8NH76 Hs.632154 OR11-67 OTTHUMP00000230080;olfactory receptor 56B4;olfactory receptor OR11-67 APPROVED protein-coding ENSG00000180919 HGNC:15248 15027 PROVISIONAL 1350041 OR5AP2 olfactory receptor, family 5, subfamily AP, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53756649 53757599 - 56408965 56409915 - 56641489 56642439 - 1580863;6480464;8554872 12477932;17903294 338675 B9EH20;Q8NGF4 AB065854;ABBA01021463;AMYH02024835;AP002517;BC136989;BC136990;CH471076;NM_001002925 AAI36990;AAI36991;BAC06072;EAW73720;NP_001002925;Q8NGF4 Hs.449692 OR9J1 OTTHUMP00000234253;olfactory receptor 5AP2;olfactory receptor, family 9, subfamily J, member 1 APPROVED protein-coding ENSG00000172464 HGNC:15258 17749 PROVISIONAL 1347292 OR5AP1P olfactory receptor, family 5, subfamily AP, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53748315 53749254 - 56400639 56401578 - 56633163 56634102 - 81223 ABBA01021463;AMYH02024834;AP002517;NG_004209 APPROVED pseudo HGNC:15257 INFERRED 1346704 OR5AR1 olfactory receptor, family 5, subfamily AR, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53778847 53779779 + 56431162 56432094 + 56663686 56664618 + 1580863;6480464 12477932;14983052;17903294 219493 Q8NGP9 AB065740;ABBA01021463;AMYH02024835;AP004245;BC140745;BK004401;CH471076;CS248302;NM_001004730 AAI40746;BAC05961;CAJ56674;DAA04799;EAW73721;NP_001004730;Q8NGP9 Hs.553633 2219998 OR5AR1__5902 OR11-209 OTTHUMP00000205323;olfactory receptor 5AR1;olfactory receptor OR11-209 APPROVED protein-coding ENSG00000172459;ENSG00000279911 HGNC:15260 17750 PROVISIONAL 1346192 OR5AK3P olfactory receptor, family 5, subfamily AK, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54097513 54098439 + 56738526 56739452 + 56971051 56971977 + 6480464 81228 Q8NH89 ABBA01021466;AMYH02024836;AP002826;NG_004212 Q8NH89 OR5AK3 APPROVED pseudo HGNC:15252 INFERRED 1354384 OR5AM1P olfactory receptor, family 5, subfamily AM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53734898 53735962 - 56387222 56388286 - 56619746 56620810 - 81226 ABBA01021463;AMYH02024834;AP002517;NG_004211 APPROVED pseudo ENSG00000255172 HGNC:15254 INFERRED 1343737 OR5AN2P olfactory receptor, family 5, subfamily AN, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56438395 56439341 - 59077115 59078061 - 59309642 59310588 - 81224 ABBA01021499;AMYH02024862;AP002358;NG_004210 APPROVED pseudo HGNC:15256 INFERRED 1343300 OR5AL2P olfactory receptor, family 5, subfamily AL, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53508886 53509805 + 56161206 56162125 + 56393730 56394649 + 79476 ABBA01021463;AMYH02024832;AP002512;NG_004143 APPROVED pseudo HGNC:14850 INFERRED 1343270 OR5AS1 olfactory receptor, family 5, subfamily AS, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53138060 53139034 + 55797895 55798869 + 56030419 56031393 + 1580863;6480464;8554872 14983052 219447 Q8N127 AB065452;AB065543;ABBA01021460;AC068339;AMYH02024831;BK004344;CH471076;CS248354;NM_001001921 BAC05714;BAC05788;CAJ56697;DAA04742;EAW73695;NP_001001921;Q8N127 Hs.553625 OR11-168 OTTHUMP00000234213;olfactory receptor 5AS1;olfactory receptor OR11-168 APPROVED protein-coding ENSG00000181785 HGNC:15261 17751 PROVISIONAL 1344437 OR5AW1P olfactory receptor, family 5, subfamily AW, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 130861938 130862861 - 130475503 130476426 - 131341529 131342452 - 81076 ABBA01042124;AL135784;AMYH02040494;NG_004158 2187470 AL031247 APPROVED pseudo HGNC:15406 INFERRED 1354315 OR5B10P olfactory receptor, family 5, subfamily B, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55474887 55475540 - 58116458 58117111 - 58348985 58349638 - 9500546 390186 ABBA01021488;AMYH02024858;AP000435;NG_002306;U86223 OR13-34;OR13-64;OR13-67;OR5B10;OR5B11;OR5B11P;OR5B18P;OR5B4P APPROVED pseudo HGNC:8320 INFERRED 1354162 OR5B12 olfactory receptor, family 5, subfamily B, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55565011 55566064 - 58206593 58207646 - 58439120 58440173 - 1580863;6480464 12213199;12477932;14983052 390191 Q96R08 AB065851;ABBA01021488;AF399637;AMYH02024859;AP002345;BC136947;BC136948;BK004507;CH471076;CS248568;NM_001004733 AAI36948;AAI36949;AAK95122;BAC06069;CAJ56800;DAA04905;EAW73806;NP_001004733;Q96R08 Hs.553754 1782292;2219358 OR5B12__5905;SHGC-112557 OR11-241;OR5B12P;OR5B16;OST743 OTTHUMP00000236142;olfactory receptor 5B12;olfactory receptor 5B16;olfactory receptor OR11-241;olfactory receptor, family 5, subfamily B, member 12 pseudogene;olfactory receptor, family 5, subfamily B, member 16 APPROVED protein-coding ENSG00000172362 HGNC:15432 15035 VALIDATED 1352210 OR5B15P olfactory receptor, family 5, subfamily B, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55513472 55514387 - 58155044 58155959 - 58387571 58388486 - 81215 ABBA01021488;AMYH02024858;AP002345;NG_004206 1717753 RH121784 APPROVED pseudo HGNC:15265 INFERRED 1604183 OR5AZ1P olfactory receptor, family 5, subfamily AZ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55041800 55042728 - 57684774 57685702 - 57917302 57918230 - 6480464 12213199;14983052 283193 AB065549;ABBA01021482;AF399500;AMYH02024851;AP003484;BK004802;NG_004207 APPROVED pseudo HGNC:15262 INFERRED 1354171 OR5AQ1P olfactory receptor, family 5, subfamily AQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53162014 53162949 + 55821841 55822776 + 56054365 56055300 + 6480464 14983052 81221 AB065451;AB065593;ABBA01021460;AC068339;AMYH02024831;BK004580;BK004708;NG_004208 OR11-165 APPROVED pseudo HGNC:15259 INFERRED 1348349 OR5B19P olfactory receptor, family 5, subfamily B, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55469715 55470572 - 58111286 58112143 - 58343813 58344670 - 81211 ABBA01021488;AMYH02024858;AP000435;NG_004205 APPROVED pseudo HGNC:15269 INFERRED 1347466 OR5B17 olfactory receptor, family 5, subfamily B, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55484027 55484971 - 58125598 58126542 - 58358125 58359069 - 1580863;6480464;8554872 14983052 219965 Q8NGF7 AB065849;ABBA01021488;AMYH02024858;AP000435;BK004491;CH471076;CS248200;NM_001005489 BAC06067;CAJ56626;DAA04889;EAW73803;NP_001005489;Q8NGF7 Hs.554517 OR11-237;OR5B20P OTTHUMP00000235991;olfactory receptor 5B17;olfactory receptor 5B20;olfactory receptor OR11-237;olfactory receptor, family 5, subfamily B, member 20 pseudogene APPROVED protein-coding ENSG00000197786 HGNC:15267 15036 VALIDATED 1603460 OR5B1P olfactory receptor, family 5, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55491823 55492470 - 58133394 58134041 - 58365921 58366568 - 12213199;9500546 401692 ABBA01021488;AF399501;AMYH02024858;AP002345;NG_002305 OR3-144;OR5B14P;OR5B5;OR5B5P;OR5B6;OR5B6P;OR5B7;OR5B7P;OR5B8;OR5B8P;OR5B9;OR5B9P;OR6-55;OR6-57;OR8-122;OR8-123;OR912-92 APPROVED pseudo HGNC:8322 INFERRED 1350221 OR5B2 olfactory receptor, family 5, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55548161 55549209 - 58189738 58190786 - 58422265 58423313 - 1580863;6480464;8554872 12213199;12477932;14983052 390190 Q96R09 AB065852;ABBA01021488;AF399636;AMYH02024858;AP002345;BC136922;BC136923;BK004505;CH471076;CS248570;KC877418;NM_001005566 AAI36923;AAI36924;AAK95121;BAC06070;CAJ56801;DAA04903;EAW73805;NP_001005566;Q96R09 Hs.553753 OR11-240;OST073 OTTHUMP00000236080;olfactory receptor 5B2;olfactory receptor OR11-240 APPROVED protein-coding ENSG00000172365 HGNC:8323 15037 VALIDATED 1345076 OR5B21 olfactory receptor, family 5, subfamily B, member 21 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55633757 55634686 - 58274649 58275578 - 58507176 58508105 - 6480464;8554872 219968 A6NL26 ABBA01021488;AMYH02024860;AP003557;NM_001005218 A6NL26;NP_001005218 Hs.553647 OTTHUMP00000236081;olfactory receptor 5B21 APPROVED protein-coding ENSG00000198283 HGNC:19616 17753 PROVISIONAL 1354314 OR5B3 olfactory receptor, family 5, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55528361 55529305 - 58169938 58170882 - 58402465 58403409 - 1580863;6480464;8554872 14983052 441608 Q8NH48 AB065545;ABBA01021488;AMYH02024858;AP002345;BK004506;CH471076;CS248572;NM_001005469 BAC05790;CAJ56802;DAA04904;EAW73804;NP_001005469;Q8NH48 Hs.553826 OR11-239;OR5B13;OST129 OTTHUMP00000236079;olfactory receptor 5B13;olfactory receptor 5B3;olfactory receptor OR11-239;olfactory receptor, family 5, subfamily B, member 13 APPROVED protein-coding ENSG00000172769 HGNC:8324 15038 VALIDATED 1344363 OR5BB1P olfactory receptor, family 5, subfamily BB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56520106 56521044 - 59158826 59159764 - 59391353 59392291 - 81209 ABBA01021501;AMYH02024863;AP003778;NG_004203 APPROVED pseudo HGNC:15271 INFERRED 1343130 OR5BA1P olfactory receptor, family 5, subfamily BA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54990821 54991799 - 57633774 57634752 - 57866302 57867280 - 81210 ABBA01021481;AMYH02024851;AP003484;NG_004204 APPROVED pseudo HGNC:15270 INFERRED 1345168 OR5BC1P olfactory receptor, family 5, subfamily BC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55443541 55444374 - 58085112 58085945 - 58317640 58318473 - 81208 ABBA01021488;AMYH02024858;AP000435;NG_004202 APPROVED pseudo HGNC:15272 INFERRED 1353797 OR5BG1P olfactory receptor, family 5, subfamily BG, member 1 pseudogene HGNC:15274 1349508 OR5BE1P olfactory receptor, family 5, subfamily BE, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53190448 53191383 + 55850277 55851212 + 56082801 56083736 + 81207 ABBA01021461;AC068339;AMYH02024831;NG_004201 APPROVED pseudo HGNC:15273 INFERRED 1350178 OR5BJ1P olfactory receptor, family 5, subfamily BJ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47584255 47585158 - 48788265 48789168 - 48394482 48395385 - 81047 ABBA01031481;AC090115;AMYH02026421;NG_004156 OST740 APPROVED pseudo HGNC:15434 INFERRED 1347786 OR5BK1P olfactory receptor, family 5, subfamily BK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47545436 47546322 - 48749442 48750328 - 48355659 48356545 - 401718 ABBA01031481;AC024257;AMYH02026420;NG_004391 APPROVED pseudo HGNC:14817 INFERRED 1343321 OR5AU1 olfactory receptor, family 5, subfamily AU, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1483635 1484723 - 21623096 21624184 - 21154937 21156025 - 6480464 12213199;12477932;14983052 390445 Q8NGC0 AB065898;ABBA01061240;AF399635;AL157687;AMYH02028830;BC137304;BC137305;BK004520;CH471078;NM_001004731 AAI37305;AAI37306;AAK95120;BAC06114;DAA04918;EAW66402;NP_001004731;Q8NGC0 Hs.553768 2219356 OR5AU1__5903 OR14-38 OTTHUMP00000244315;olfactory receptor 5AU1;olfactory receptor OR14-38 APPROVED protein-coding ENSG00000169327 HGNC:15362 15034 PROVISIONAL 1349347 OR5BL1P olfactory receptor, family 5, subfamily BL, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55295532 55296164 + 57938562 57939194 + 58171090 58171722 + 81205 ABBA01021486;AMYH02024857;AP004247;NG_004200 APPROVED pseudo HGNC:15275 INFERRED 1343683 OR5BH1P olfactory receptor, family 5, subfamily BH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 130918458 130919366 - 130532023 130532931 - 131398049 131398957 - 10737800 81075 ABBA01042128;AL135784;AMYH02040494;NG_004157 2148107 DXS7278 OR5BH2P APPROVED pseudo HGNC:15407 INFERRED 1348106 OR5BM1P olfactory receptor, family 5, subfamily BM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q11.2 96161291 96162216 + 97771737 97772662 + 98052893 98053818 + 79491 ABBA01026939;AC026100;AMYH02007285;NG_004145 APPROVED pseudo HGNC:14835 INFERRED 1605328 OR5BP1P olfactory receptor, family 5, subfamily BP, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54182128 54182561 + 56823176 56823609 + 57055701 57056134 + 81203 ABBA01021468;AMYH02024837;AP001521;NG_004198 APPROVED pseudo HGNC:15277 INFERRED 1604131 OR5BN2P olfactory receptor, family 5, subfamily BN, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53224283 53224900 - 55884114 55884731 - 56116638 56117255 - 504181 ABBA01021461;AC068339;AMYH02024831;NG_004864 APPROVED pseudo HGNC:29194 INFERRED 1343020 OR5BN1P olfactory receptor, family 5, subfamily BN, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53240297 53241125 - 55900141 55900969 - 56132665 56133493 - 14983052;23910658 81204 ABBA01021461;AC068339;AMYH02024831;BK004605;NG_004199 OR11-161 APPROVED pseudo HGNC:15276 INFERRED 1348137 OR5BQ1P olfactory receptor, family 5, subfamily BQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54155822 54156157 + 56796863 56797198 + 57029388 57029723 + 81202 ABBA01021467;AMYH02024837;AP002826;NG_004197 OR5BQ2P APPROVED pseudo HGNC:15278 INFERRED 1348955 OR5BR1P olfactory receptor, family 5, subfamily BR, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56461509 56462838 - 59100229 59101558 - 59332756 59334085 - 81201 ABBA01021499;AMYH02024862;AP002358;NG_004196 APPROVED pseudo HGNC:15279 INFERRED 1344145 OR5BS1P olfactory receptor, family 5, subfamily BS, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47749661 47750593 + 48953665 48954597 + 48559882 48560814 + 390313 ABBA01031482;AC089987;AMYH02026423;NG_004343 OR5BS1 APPROVED pseudo HGNC:19627 INFERRED 1344310 OR5BT1P olfactory receptor, family 5, subfamily BT, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 47575123 47576077 - 48779133 48780087 - 48385350 48386304 - 282790 ABBA01031481;AC090115;AMYH02026421;NG_004300 APPROVED pseudo HGNC:19629 INFERRED 1606314 OR5D11P olfactory receptor, family 5, subfamily D, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199;9500546 26351 AF399363;NG_003230;U86285 OR5D11;OR5D1P;OR8-125;OR8-127 pseudo HGNC:8332 1350020 OR5D14 olfactory receptor, family 5, subfamily D, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52903186 52904130 + 55563032 55563976 + 55795556 55796500 + 1580863;6480464;8554872 12213199;14983052 219436 Q8NGL3 AB065779;ABBA01021460;AC036111;AF399523;AMYH02024828;BK004328;BK004393;CH471076;CS248328;NM_001004735 AAI48381;AAI53006;AAK95008;BAC05999;CAJ56687;DAA04726;DAA04791;EAW73683;NP_001004735;Q8NGL3 Hs.553622 2219362 OR5D14__5909 OR11-141;OR11-150 OTTHUMP00000234203;olfactory receptor 5D14;olfactory receptor OR11-141;olfactory receptor OR11-150 APPROVED protein-coding ENSG00000186113 HGNC:15281 17756 PROVISIONAL 1348417 OR5D13 olfactory receptor, family 5, subfamily D, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52881056 52882000 + 55540914 55541858 + 55773438 55774382 + 1580863;6480464;8554872 14983052 390142 Q8NGL4 AB065778;ABBA01021460;AC036111;AMYH02024828;BK004333;BK004394;CH471076;CS248326;NM_001001967 BAC05998;CAJ56686;DAA04731;DAA04792;EAW73682;NP_001001967;Q8NGL4 Hs.553743 OTTHUMP00000234202;olfactory receptor 5D13;olfactory receptor OR11-142;olfactory receptor OR11-148 APPROVED protein-coding ENSG00000198877;ENSG00000279761 HGNC:15280 15040 PROVISIONAL 1347450 OR5D15P olfactory receptor, family 5, subfamily D, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52894595 52895536 + 55554441 55555382 + 55786965 55787906 + 81198 ABBA01021460;AC036111;AMYH02024828;NG_004195 APPROVED pseudo HGNC:15282 INFERRED 1352687 OR5D16 olfactory receptor, family 5, subfamily D, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52946371 52947357 + 55606228 55607214 + 55838752 55839738 + 1580863;6480464;8554872 12213199;14983052 390144 Q8NGK9 AB065783;ABBA01021460;AC036111;AF399524;AMYH02024829;BK004397;CH471076;CS248324;NM_001005496 AAI48516;AAI53113;AAK95009;BAC06003;CAJ56685;DAA04795;EAW73687;NP_001005496;Q8NGK9 Hs.554527 OR11-154 OTTHUMP00000205365;olfactory receptor 5D16;olfactory receptor OR11-154 APPROVED protein-coding ENSG00000205029 HGNC:15283 17757 PROVISIONAL 1345975 OR5D18 olfactory receptor, family 5, subfamily D, member 18 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52927253 52928194 + 55587106 55588047 + 55819630 55820571 + 1580863;6480464;8554872 12213199;12477932;14983052 219438 Q8NGL1 AB065781;ABBA01021460;AC036111;AF399525;AMYH02024829;BC136925;BC136927;BK004329;BK004395;CH471076;CS248322;NM_001001952 AAI36926;AAI36928;AAK95010;BAC06001;CAJ56684;DAA04727;DAA04793;EAW73685;NP_001001952;Q8NGL1 Hs.553624 OR11-143 OTTHUMP00000234205;olfactory receptor 5D18;olfactory receptor OR11-143;olfactory receptor OR11-152 APPROVED protein-coding ENSG00000186119 HGNC:15285 17758 PROVISIONAL 1350614 OR5D2P olfactory receptor, family 5, subfamily D, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12 52824326 52824962 + 55482473 55483109 + 55714997 55715633 + 12213199;9500546;9787077 8595 ABBA01021458;AF065858;AF399362;AF399363;AMYH02024827;AP006437;NG_002277;U86246;U86247;U86248;U86249;U86250;U86285;U86287;U86288;U86296;U86297;U86298;U86300 OR11-7a;OR18-17;OR18-42;OR18-43;OR18-44;OR18-79;OR5D10P;OR5D11;OR5D11P;OR5D12;OR5D12P;OR5D1P;OR5D5P;OR5D6P;OR5D7P;OR5D8P;OR5D9P;OR8-125;OR8-127;OR912-47;OR912-91;OR912-94;R5D9P APPROVED pseudo HGNC:8335 INFERRED 1345537 OR5D3P olfactory receptor, family 5, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12 52835754 52836402 + 55493890 55494538 + 55726414 55727062 + 12213199;14983052;9787077 8594 Q6IFD1 ABBA01021458;AF065860;AF065861;AF399364;AMYH02024828;AP006437;BK004331;CH471076;NG_002172 AAC70015;AAC70016;DAA04729;EAW73680 OR11-8b;OR11-8c;OR5D3;OR5D4 APPROVED pseudo HGNC:8336 INFERRED 1346829 OR5BD1P olfactory receptor, family 5, subfamily BD, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55070000 55071035 - 57712969 57713995 - 57945497 57946523 - 79483 ABBA01021483;AC040925;AMYH02024851;AP003484;NG_002253 APPROVED pseudo HGNC:14843 INFERRED 1354065 OR5E1P olfactory receptor, family 5, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7986111 7986631 + 7870598 7871118 + 7849051 7849571 + 633349;1580863;6480464 9119360 11705801 26343 Q8NGM3 AB065769;ABBA01028682;AC044810;AC209551;AF309699;AF309702;AMYH02024286;CH471064;NR_027711;X89671 BAC05989;CAA61818;EAW68644 Hs.382973 HSTPCR24;OR5E1;TPCR24 APPROVED pseudo HGNC:8342 VALIDATED 1604145 OR5C1 olfactory receptor, family 5, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96199553 96200515 + 125551212 125552174 + 122788933 122789895 + 6480464 12477932;14983052 392391 Q6IFM9;Q8NGR4 AB065725;ABBA01043717;AC006313;AF399514;AMYH02021592;BC136700;BC136701;BK004233;CH471090;NM_001001923 AAI36701;AAI36702;AAK94999;BAC05946;DAA04631;EAW87544;NP_001001923;Q8NGR4 Hs.534761 OR5C2P;OR9-31;OR9-F OTTHUMP00000022067;hRPK-465_F_21;olfactory receptor 5C1;olfactory receptor 5C2;olfactory receptor 9-F;olfactory receptor, family 5, subfamily C, member 2 pseudogene APPROVED protein-coding ENSG00000148215 HGNC:8331 15039 PROVISIONAL 1353182 OR5F2P olfactory receptor, family 5, subfamily F, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53122657 53123597 - 55782492 55783432 - 56015016 56015956 - 81194 ABBA01021460;AC068339;AMYH02024831;NG_004193 APPROVED pseudo HGNC:15286 INFERRED 1348600 OR5G1P olfactory receptor, family 5, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53901525 53902447 - 56542760 56543682 - 56775284 56776206 - 6480464 9700185;9787077 8591 ABBA01021464;AF045576;AF065871;AMYH02024835;AP001803;NG_002299 OR11-104;OR5G2P;OR93;OR93HUM APPROVED pseudo HGNC:8344 INFERRED 1346393 OR5G3 olfactory receptor, family 5, subfamily G, member 3 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53945721 53946888 - 56586955 56588122 - 56819479 56820646 - 6480464 12730696;14983052 81193 P0C626 ABBA01021464;AMYH02024835;AP001803;NG_002406 P0C626 OR5G3P;OR5G6P APPROVED pseudo HGNC:15287 INFERRED 1345936 OR5G5P olfactory receptor, family 5, subfamily G, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53928102 53929037 - 56569335 56570270 - 56801859 56802794 - 81191 ABBA01021464;AMYH02024835;AP001803;NG_004191 1749807 SHGC-111544 APPROVED pseudo HGNC:15289 INFERRED 1351453 OR5G4P olfactory receptor, family 5, subfamily G, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53916360 53917340 - 56557597 56558577 - 56790121 56791101 - 81192 ABBA01021464;AMYH02024835;AP001803;NG_004192 APPROVED pseudo HGNC:15288 INFERRED 1347228 OR5H14 olfactory receptor, family 5, subfamily H, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96258015 96258947 + 97868230 97869162 + 98149386 98150318 + 6480464;8554872 12477932;14983052 403273 A6NHG9;Q8NHB6 AB065459;ABBA01026938;AC117460;AMYH02007285;BC136984;CH471052;NM_001005514 A6NHG9;AAI36985;BAC05719;EAW79868;NP_001005514 Hs.554714;Hs.719887 OTTHUMP00000217454;olfactory receptor 5H14;seven transmembrane helix receptor APPROVED protein-coding ENSG00000236032 HGNC:31286 15041 PROVISIONAL 1347725 OR5H1 olfactory receptor, family 5, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q11.2 96241322 96242263 + 97851542 97852483 + 98132698 98133639 + 6480464;8554872 1370859 26341 A6NKK0 ABBA01026938;AC117460;AMYH02007285;CH471052;NM_001005338;X64988 A6NKK0;AAI48612;EAW79869;NP_001005338 Hs.537383 HSHTPCRX14;HTPCRX14 OTTHUMP00000217447;olfactory receptor 5H1 APPROVED protein-coding ENSG00000231192 HGNC:8346 17759 PROVISIONAL 1350240 OR5D17P olfactory receptor, family 5, subfamily D, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52864314 52865291 + 55522453 55523430 + 55754977 55755954 + 81196 ABBA01021460;AC036111;AMYH02024828;NG_004194 APPROVED pseudo HGNC:15284 INFERRED 1353991 OR5H3P olfactory receptor, family 5, subfamily H, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96316327 96317242 + 97926267 97927185 + 98207423 98208341 + 14983052 79309 ABBA01026932;AC117460;AC117473;AMYH02007285;BK004591;NG_002237 APPROVED pseudo HGNC:14753 INFERRED 1351053 OR5F1 olfactory receptor, family 5, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53101323 53102267 - 55761157 55762101 - 55993681 55994625 - 1580863;6480464;8554872 12213199;12477932;14983052;9787077 338674 A0AUJ7;O95221 ABBA01021460;AC068339;AF065863;AF399527;AMYH02024830;BC101239;BC101241;BC101242;BK004343;CH471076;CS248356;NM_003697 AAC70017;AAI01240;AAI01242;AAI01243;AAK95012;CAJ56698;DAA04741;EAW73694;NP_003688;O95221 Hs.553702 2219364;5493587 OR5F1__5911;UniSTS:487306 OR11-10 OTTHUMP00000234212;olfactory receptor 11-10;olfactory receptor 5F1;olfactory receptor OR11-167 APPROVED protein-coding ENSG00000149133 HGNC:8343 12246 608492 PROVISIONAL 1344642 OR5H15 olfactory receptor, family 5, subfamily H, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96277330 96278271 + 97887544 97888485 + 98168700 98169641 + 6480464;8554872 403274 A6NDH6 ABBA01026938;AC117460;AMYH02007285;CH471052;NM_001005515 A6NDH6;EAW79867;NP_001005515 Hs.554713 OTTHUMP00000217451;olfactory receptor 5H15 APPROVED protein-coding ENSG00000233412 HGNC:31287 17760 PROVISIONAL 1349856 OR5H2 olfactory receptor, family 5, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96393690 96394634 + 98001732 98002676 + 98282888 98283832 + 6480464 14983052;19483685 79310 Q8NGV7 AB065666;ABBA01026931;AC117473;AMYH02007286;BK004375;CH471052;CS248266;NM_001005482 BAC05892;CAJ56657;DAA04773;EAW79865;NP_001005482;Q8NGV7 Hs.554711 OR3-10 OTTHUMP00000217455;olfactory receptor 5H2;olfactory receptor OR3-10 APPROVED protein-coding ENSG00000197938 HGNC:14752 15042 PROVISIONAL 1344827 OR5H4P olfactory receptor, family 5, subfamily H, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96332827 96333754 + 97940883 97941810 + 98222039 98222966 + 14983052 79299 ABBA01026932;AC117460;AC117473;AMYH02007285;BK004592;NG_002231 OR3-5 APPROVED pseudo HGNC:14763 INFERRED 1342485 OR5H5P olfactory receptor, family 5, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96306111 96307035 + 97916055 97916982 + 98197211 98198138 + 14983052 79297 ABBA01026933;AC117460;AC117473;AMYH02007285;BK004698;NG_002230 OR3-3 APPROVED pseudo HGNC:14765 INFERRED 1353211 OR5H7P olfactory receptor, family 5, subfamily H, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96349143 96350069 + 97957196 97958122 + 98238352 98239278 + 14983052 79291 AB065459;ABBA01026932;AC117460;AC117473;AMYH02007285;BK004589;NG_002228 OR3-6 APPROVED pseudo HGNC:14771 INFERRED 1347959 OR5H6 olfactory receptor, family 5, subfamily H, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96375091 96376068 + 97983129 97984106 + 98264285 98265262 + 6480464;8554872 12477932;14983052 79295 Q8NGV6 AB065667;ABBA01026931;AC117460;AMYH02007285;BC137523;BC137524;BK004374;CH471052;CS248268;NM_001005479 AAI37524;AAI37525;BAC05893;CAJ56658;DAA04772;EAW79866;NP_001005479;Q8NGV6 Hs.554712 OR3-11 OTTHUMP00000217453;olfactory receptor 5H6;olfactory receptor OR3-11 APPROVED protein-coding ENSG00000230301;ENSG00000279922 HGNC:14767 17761 PROVISIONAL 1603461 OR5J1P olfactory receptor, family 5, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53178758 53179693 + 55838587 55839522 + 56071111 56072046 + 10706615;12213199;1370859;14983052 401687 AB065655;AB065842;ABBA01021461;AC068339;AF179763;AF399354;AMYH02024831;BK004581;NG_004086 HTPCRH02;OR11-169;OR5J1 APPROVED pseudo HGNC:8348 INFERRED 1347056 OR5H8 olfactory receptor, family 5, subfamily H, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96422712 96423639 + 98030757 98031684 + 98311913 98312840 + 6480464 12908129;14983052 79289 AB065460;ABBA01026930;AC117473;AMYH02007286;AY284071;BK004590;NG_002227 OR3-7 APPROVED pseudo HGNC:14773 INFERRED 1351255 OR5I1 olfactory receptor, family 5, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53043107 53044051 - 55702932 55703876 - 55935456 55936400 - 1580863;6480464;8554872 12477932;14983052;15489334;9017400;9787077 10798 Q13606 ABBA01021460;AMYH02024830;AP003033;BC069093;BK004518;CH471076;NM_006637;U56420 AAB01214;AAH69093;DAA04916;EAW73691;NP_006628;Q13606 Hs.533706 5492469 UniSTS:481154 HSOlf1;OLF1 OTTHUMP00000234210;olfactory receptor 5I1;olfactory receptor OR11-159;olfactory receptor-like protein OLF1 APPROVED protein-coding ENSG00000167825 HGNC:8347 09772 608496 REVIEWED 1354256 OR5J2 olfactory receptor, family 5, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53284239 53285177 + 55944094 55945032 + 56176618 56177556 + 1580863;6480464 1370859;14983052 282775 Q8NH18 AB065595;ABBA01021462;AMYH02024832;AP003034;BK004517;CH471076;CS248602;NM_001005492;X64974 AAI56210;AAI56953;BAC05823;CAJ56817;DAA04915;EAW73703;NP_001005492;Q8NH18 Hs.537145 OR11-266 OTTHUMP00000234219;olfactory receptor 5J2;olfactory receptor OR11-266 APPROVED protein-coding ENSG00000174957 HGNC:19612 17762 PROVISIONAL 1344902 OR5J7P olfactory receptor, family 5, subfamily J, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q 53273120 53273541 + 55932977 55933398 + 56165501 56165922 + 403276 ABBA01021462;AP003034;NG_004428 APPROVED pseudo HGNC:31289 INFERRED 1347070 OR5K1 olfactory receptor, family 5, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q11.2 96580080 96581031 + 98188421 98189372 + 98469577 98470528 + 1580863;6480464 12477932;1370859;14983052 26339 Q8NHB7 AB065458;ABBA01026929;AC074274;AMYH02007287;BC136918;BC136919;BK004416;CH471052;NM_001004736;X64984 AAI36919;AAI36920;AAI46326;AAI48753;BAC05718;DAA04814;EAW79862;NP_001004736;Q8NHB7 Hs.621533 2219366 OR5K1__5913 HSHTPCRX10;HTPCRX10;OR3-8 OTTHUMP00000217404;olfactory receptor 5K1;olfactory receptor OR3-8 APPROVED protein-coding ENSG00000232382 HGNC:8349 15043 PROVISIONAL 1347767 OR5K3 olfactory receptor, family 5, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96501349 96502314 + 98109510 98110475 + 98390666 98391631 + 6480464 403277 A6NET4 ABBA01026929;AC108730;AMYH02007287;CH471052;NM_001005516 A6NET4;EAW79863;NP_001005516 Hs.554709 OTTHUMP00000217452;olfactory receptor 5K3 APPROVED protein-coding ENSG00000206536 HGNC:31290 17763 PROVISIONAL 1345283 OR5K2 olfactory receptor, family 5, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q11.2 96608183 96609133 + 98216525 98217475 + 98497681 98498631 + 1580863;6480464 12477932;14983052;16641997 402135 Q8NHB8 AB065457;ABBA01026929;AC021660;AMYH02007287;BC136724;BC136725;BK004415;CH471052;CS248212;NM_001004737 AAI36725;AAI36726;BAC05717;CAJ56631;DAA04813;EAW79861;NP_001004737;Q8NHB8 Hs.632558 OR3-9 OTTHUMP00000217405;olfactory receptor 5K2;olfactory receptor OR3-9 APPROVED protein-coding ENSG00000231861 HGNC:14774 15044 PROVISIONAL 1342893 OR5K4 olfactory receptor, family 5, subfamily K, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96464653 96465618 + 98072698 98073663 + 98353854 98354819 + 6480464;8554872 403278 A6NMS3 ABBA01026930;AC108730;AC117473;AMYH02007287;CH471052;NM_001005517 A6NMS3;EAW79864;NP_001005517 Hs.554710 OTTHUMP00000217456;olfactory receptor 5K4 APPROVED protein-coding ENSG00000196098 HGNC:31291 17764 PROVISIONAL 1345495 OR5L1 olfactory receptor, family 5, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52919094 52920029 + 55578943 55579878 + 55811467 55812402 + 1580863;6480464;8554872 12477932;14983052;15489334 219437 Q8NGL2 AB065780;ABBA01021460;AC022289;AC036111;AMYH02024828;BC109249;BC109250;BC136939;BK004332;CH471076;CS248116;NM_001004738 AAI09250;AAI09251;AAI36940;BAC06000;CAJ56585;DAA04730;EAW73684;NP_001004738;Q8NGL2 Hs.553623 2219368;5493175 OR5L1__5914;UniSTS:484587 OR11-151;OST262 OTTHUMP00000234204;olfactory receptor 5L1;olfactory receptor OR11-151 APPROVED protein-coding ENSG00000186117;ENSG00000279395 HGNC:8350 15045 PROVISIONAL 1342923 OR5L2 olfactory receptor, family 5, subfamily L, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52934841 52935776 + 55594695 55595630 + 55827219 55828154 + 1580863;6480464;8554872 12213199;1370859;14983052 26338 Q8NGL0 AB065782;ABBA01021460;AC036111;AF399526;AMYH02024829;BK004396;CH471076;CS248320;NM_001004739;X64990 AAI72290;AAK95011;BAC06002;CAJ56683;DAA04794;EAW73686;NP_001004739;Q8NGL0 Hs.528356 2219368;5493175 OR5L1__5914;UniSTS:484587 HSHTPCRX16;HTPCRX16;OR11-153 OTTHUMP00000234206;olfactory receptor 5L2;olfactory receptor OR11-153;olfactory receptor, family 5, subfamily L, member 1 APPROVED protein-coding ENSG00000205030 HGNC:8351 15046 PROVISIONAL 1349395 OR5M1 olfactory receptor, family 5, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53727707 53728654 - 56380031 56380978 - 56612555 56613502 - 1580863;6480464 12213199;14983052 390168 Q8NGP8;Q8NH86 AB065501;AB065742;ABBA01021463;AF399522;AMYH02024834;AP002517;BK004402;CH471076;CS248306;NM_001004740 AAK95007;BAC05751;BAC05962;CAJ56676;DAA04800;EAW73719;NP_001004740;Q8NGP8 Hs.553751 1782410 SHGC-154780 OR11-208;OST050 OTTHUMP00000234252;olfactory receptor 5M1;olfactory receptor OR11-208;seven transmembrane helix receptor APPROVED protein-coding ENSG00000255012 HGNC:8352 17765 PROVISIONAL 1353504 OR5M10 olfactory receptor, family 5, subfamily M, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53691923 53692870 - 56344250 56345197 - 56576774 56577721 - 6480464;8554872 12477932;14983052;16554811 390167 Q6IEU7 ABBA01021463;AMYH02024833;AP002517;BC140733;BK004515;CH471076;CS248604;NM_001004741 AAI40734;CAJ56818;DAA04913;EAW73718;NP_001004741;Q6IEU7 Hs.553750 2219370 OR5M10__5917 OR11-207 OTTHUMP00000234251;olfactory receptor 5M10;olfactory receptor OR11-207 APPROVED protein-coding ENSG00000254834 HGNC:15290 15047 PROVISIONAL 1350071 OR5M12P olfactory receptor, family 5, subfamily M, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53744085 53745052 + 56396409 56397376 + 56628933 56629900 + 81188 ABBA01021463;AMYH02024834;AP002517;NG_004190 APPROVED pseudo ENSG00000197866 HGNC:15292 INFERRED 1350377 OR5M13P olfactory receptor, family 5, subfamily M, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53712659 53713146 - 56364983 56365470 - 56597507 56597994 - 10706615 81187 ABBA01021463;AF179769;AMYH02024834;AP002517;NG_002281 APPROVED pseudo HGNC:15293 INFERRED 1604783 OR5M14P olfactory receptor, family 5, subfamily M, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p13 42169247 42169600 - 41725227 41725580 - 41723210 41723563 - 9847074 81421 ABBA01014273;AC105389;AMYH02009100;NG_004263 OR5M15P APPROVED pseudo HGNC:15057 INFERRED 1343585 OR5M11 olfactory receptor, family 5, subfamily M, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53657477 53658394 - 56309816 56310733 - 56542340 56543257 - 1580863;6480464;8554872 12213199;12477932;14983052 219487 Q96RB7 ABBA01021463;AF399521;AMYH02024832;AP002517;BC136951;BC136953;BK004656;CH471076;NM_001005245 AAI36952;AAI36954;AAK95006;EAW73717;NP_001005245;Q96RB7 Hs.553632 OR11-199 OTTHUMP00000234250;olfactory receptor 5M11;olfactory receptor OR11-199 pseudogene APPROVED protein-coding ENSG00000255223 HGNC:15291 17766 PROVISIONAL 1345187 OR5M2P olfactory receptor, family 5, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53594642 53595577 - 56246967 56247902 - 56479491 56480426 - 79523 ABBA01021463;AMYH02024832;AP002512;NG_004154 OR11-193 APPROVED pseudo HGNC:14803 INFERRED 1349304 OR5M5P olfactory receptor, family 5, subfamily M, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53641690 53642625 - 56294043 56294978 - 56526567 56527502 - 6480464 12213199;14983052 390166 AB065743;ABBA01021463;AF399360;AMYH02024832;AP002512;BK004644;BK004652;BK004721;KC877419;NG_004151 APPROVED pseudo HGNC:14810 INFERRED 1352049 OR5M6P olfactory receptor, family 5, subfamily M, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53627367 53628303 - 56279710 56280646 - 56512234 56513170 - 79512 ABBA01021463;AMYH02024832;AP002512;NG_004150 APPROVED pseudo HGNC:14814 INFERRED 1351815 OR5M4P olfactory receptor, family 5, subfamily M, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53563808 53564732 + 56216145 56217069 + 56448669 56449593 + 79518 ABBA01021463;AMYH02024832;AP002512;NG_004152 1668574 G19252 APPROVED pseudo HGNC:14808 INFERRED 1353329 OR5M3 olfactory receptor, family 5, subfamily M, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53584725 53585648 - 56236964 56238014 - 56469488 56470538 - 1580863;6480464 12213199;12477932;14983052 219482 Q8NGP4 AB065746;ABBA01021463;AF399518;AMYH02024832;AP002512;BC136982;BC136983;BK004498;CH471076;CS248160;NM_001004742 AAI36983;AAI36984;AAK95003;BAC05966;CAJ56607;DAA04896;EAW73715;NP_001004742;Q8NGP4 Hs.553631 1704312 SHGC-83297 OR11-191 OTTHUMP00000234266;olfactory receptor 5M3;olfactory receptor OR11-191 APPROVED protein-coding ENSG00000174937 HGNC:14806 17767 VALIDATED 1352287 OR5M7P olfactory receptor, family 5, subfamily M, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53615432 53616403 - 56267775 56268746 - 56500299 56501270 - 79508 ABBA01021463;AMYH02024832;AP002512;NG_004149 APPROVED pseudo HGNC:14818 INFERRED 1343653 OR5M8 olfactory receptor, family 5, subfamily M, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53605589 53606524 - 56257911 56258846 - 56490435 56491370 - 1580863;6480464 12213199;12477932;14983052 219484 Q8NGP6 AB065744;ABBA01021463;AF399520;AMYH02024832;AP002512;BC136978;BC136980;BK004499;CH471076;CS248158;NM_001005282 AAI36979;AAI36981;AAK95005;BAC05964;CAJ56606;DAA04897;EAW73716;NP_001005282;Q8NGP6 Hs.554522 OR11-194 OTTHUMP00000234267;olfactory receptor 5M8;olfactory receptor OR11-194 APPROVED protein-coding ENSG00000181371 HGNC:14846 17768 PROVISIONAL 1346767 OR5P1P olfactory receptor, family 5, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7909964 7910885 - 7794440 7795361 - 7772893 7773814 - 79283 ABBA01028682;AC021427;AMYH02024284;NG_004139 APPROVED pseudo HGNC:14779 INFERRED 1347852 OR5M9 olfactory receptor, family 5, subfamily M, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53577622 53578554 - 56229945 56230877 - 56462469 56463401 - 1580863;6480464;8554872 12213199;14983052 390162 Q8NGP3 AB065747;ABBA01021463;AF399519;AMYH02024832;AP002512;BK004497;CH471076;NM_001004743 AAI40459;AAI48708;AAK95004;BAC05967;DAA04895;EAW73714;NP_001004743;Q8NGP3 Hs.553749 2219372 OR5M9__5920 OR11-190 OTTHUMP00000234265;olfactory receptor 5M9;olfactory receptor OR11-190 APPROVED protein-coding ENSG00000150269 HGNC:15294 15048 PROVISIONAL 1349329 OR5P4P olfactory receptor, family 5, subfamily P, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7883055 7883974 + 7767538 7768457 + 7745991 7746910 + 81185 ABBA01028682;AC021427;AMYH02024284;NG_004189 OST730 APPROVED pseudo HGNC:15295 INFERRED 1353442 OR5S1P olfactory receptor, family 5, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 234721556 234722503 + 241048519 241049466 + 240109102 240110049 + 9847074 391496 ABBA01048859;AC013469;AMYH02006093;NG_004369 APPROVED pseudo HGNC:15040 INFERRED 1344577 OR5P2 olfactory receptor, family 5, subfamily P, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7933044 7934012 - 7817521 7818489 - 7795974 7796942 - 1580863;6480464;8554872 11705801;12477932;14983052;15489334 120065 Q8WZ86;Q8WZ92 AB065767;ABBA01028682;AC044810;AF173006;AF220494;AMYH02024284;BC101710;BC113557;BK004322;CH471064;CS248198;NM_153444 AAI01711;AAI13558;AAL32992;AAL32995;ADR83133;BAC05987;CAJ56625;DAA04720;EAW68646;NP_703145;Q8WZ92 Hs.351824 5492529 UniSTS:481508 JCG3;JCG4;MGC126759;MGC142117 OTTHUMP00000230677;olfactory receptor 5P2;olfactory receptor OR11-93;olfactory receptor-like protein JCG3 APPROVED protein-coding ENSG00000183303 HGNC:14783 17769 PROVISIONAL 1352607 OR5P3 olfactory receptor, family 5, subfamily P, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7962108 7963043 - 7846584 7847519 - 7825037 7825972 - 1580863;6480464;8554872 11705801;12213199;14983052 120066 Q8WZ94 AB065770;ABBA01028682;AC044810;AF158377;AF399366;AMYH02024285;BK004321;CH471064;CS248294;NM_153445 AAI41522;AAL32991;BAC05990;CAJ56670;DAA04719;EAW68645;NP_703146;Q8WZ94 Hs.351825 1765717;2219374;5492531 OR5P3__5922;SHGC-149151;UniSTS:481519 JCG1 OTTHUMP00000230678;olfactory receptor 5P3;olfactory receptor OR11-94;olfactory receptor-like protein JCG1 APPROVED protein-coding ENSG00000182334 HGNC:14784 17770 PROVISIONAL 1351573 OR5R1 olfactory receptor, family 5, subfamily R, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53532415 53533389 - 56184734 56185708 - 56417258 56418232 - 1580863;6480464 14983052 219479 Q8NH85 AB065504;ABBA01021463;AMYH02024832;AP002512;BK004514;CH471076;CS248564;NM_001004744 BAC05752;CAJ56868;DAA04912;EAW73713;NP_001004744;Q8NH85 Hs.553630 2219376 OR5R1__5923 OR11-185;OR5R1P OTTHUMP00000205328;olfactory receptor 5R1;olfactory receptor OR11-185;olfactory receptor, family 5, subfamily R, member 1 pseudogene APPROVED protein-coding ENSG00000174942;ENSG00000279961 HGNC:14841 15049 PROVISIONAL 1354464 OR5T1 olfactory receptor, family 5, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53383199 53384179 + 56043115 56044095 + 56275639 56276619 + 1580863;6480464;8554872 12477932;14983052;23824909 390155 Q8NG75 AB065962;ABBA01021463;AC022882;AMYH02024832;BC136992;BC136993;BK004336;CH471076;CS248594;NM_001004745 AAI36993;AAI36994;BAC06174;CAJ56813;DAA04734;EAW73706;NP_001004745;Q8NG75 Hs.553747 OR11-179;OR5T1P OTTHUMP00000234245;olfactory receptor 5T1;olfactory receptor OR11-179;olfactory receptor, family 5, subfamily T, member 1 pseudogene APPROVED protein-coding ENSG00000181698 HGNC:14821 15050 PROVISIONAL 1350624 OR5W1P olfactory receptor, family 5, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53010996 53011798 - 55670819 55671621 - 55903343 55904145 - 81182 ABBA01021460;AC036111;AMYH02024830;NG_004188 OR11-144 APPROVED pseudo HGNC:15298 INFERRED 1342811 OR5W2 olfactory receptor, family 5, subfamily W, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53021301 53022233 - 55681126 55682058 - 55913650 55914582 - 1580863;6480464;8554872 12213199;14983052;20379614 390148 Q8NH69 AB065520;ABBA01021460;AC036111;AF399355;AMYH02024830;BK004398;CH471076;NM_001001960 BAC05768;DAA04796;EAW73690;NP_001001960;Q8NH69 Hs.554526 OR5W2P;OR5W3P OTTHUMP00000234208;olfactory receptor 5W2;olfactory receptor 5W3;olfactory receptor OR11-155;olfactory receptor, family 5, subfamily W, member 3 pseudogene APPROVED protein-coding ENSG00000187612 HGNC:15299 15054 PROVISIONAL 1348304 OR5V1 olfactory receptor, family 5, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30929186 30930233 - 29323007 29324054 - 29355230 29356277 - 1580863;6480464 12477932;12637542;14574404;14983052;17684544;19833159;19851445;20205591;24047820 81696 Q9UGF6 ABBA01038032;AJ459859;AL096770;AL662781;AL732432;AMYH02013407;BC069149;BK004440;BX005133;BX927232;CH471081;CR759808;NM_030876 AAH69149;AAI48488;CAB65797;CAD31042;DAA04838;EAX03189;NP_110503;Q9UGF6 Hs.666316 2219378;5492399 OR5V1__5927;UniSTS:480912 6M1-21;hs6M1-21 OTTHUMP00000029285;OTTHUMP00000108530;olfactory receptor 5V1;olfactory receptor OR6-26 APPROVED protein-coding ENSG00000243729 HGNC:13972 17771 VALIDATED 1605112 OR6A2 olfactory receptor, family 6, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15 6934849 6936232 - 6815756 6817139 - 6794525 6795908 - 6480464;8554872 11416212;12477932;14983052;15489334;20608641;9787077 8590 O95222 AB065822;ABBA01028673;AC002555;AC087280;AF065870;AF321237;AMYH02024274;BC101489;BC101491;BK004427;CH471064;NM_003696 AAC70018;AAG45208;AAI01490;AAI01492;BAC06041;DAA04825;EAW68676;NP_003687;O95222 Hs.652252 2219380;5492369;5493269 OR6A2__5928;Olfr2;UniSTS:485547 I7;MGC126538;MGC126540;OR11-55;OR6A1;OR6A2P OTTHUMP00000230845;hI7 olfactory receptor;hP2 olfactory receptor;olfactory receptor 11-55;olfactory receptor 6A1;olfactory receptor 6A2;olfactory receptor OR11-83;olfactory receptor, family 6, subfamily A, member 1;olfactory receptor, family 6, subfamily A, member 2 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000184933 HGNC:15301 09771 608495 PROVISIONAL 1348824 OR6B2 olfactory receptor, family 6, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 234642436 234643374 - 240968382 240972324 - 240028965 240032907 - 6480464 12477932;14983052;23910658 389090 Q6IFH4 AB065663;ABBA01048858;AC013469;AMYH02006093;BC065821;BC137561;BC137562;BK004288;CH471063;NM_001005853;XM_005247004 AAI37562;AAI37563;BAC05889;DAA04686;EAW71176;NP_001005853;Q6IFH4;XP_005247061 Hs.531343 OR2-1;OR6B2P OTTHUMP00000201600;olfactory receptor 6B2;olfactory receptor OR2-1;olfactory receptor, family 6, subfamily B, member 2 pseudogene APPROVED protein-coding HGNC:15041 15056 PROVISIONAL 1350028 OR6B3 olfactory receptor, family 6, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 234657516 234658511 - 240984494 240985489 - 240045077 240046072 - 1580863;6480464;8554872 14983052;23602568 150681 Q8NGW1 AB065662;ABBA01048858;AC013469;AMYH02006093;BK004289;CH471063;NM_173351 BAC05888;DAA04687;EAW71177;NP_775486;Q8NGW1 Hs.626616 2219382 OR6B3__5930 OR6B3P;OR6B3Q OTTHUMP00000201599;olfactory receptor 6B3;olfactory receptor OR2-2;olfactory receptor, family 6, subfamily B, member 3 pseudogene APPROVED protein-coding ENSG00000178586 HGNC:15042 17772 PROVISIONAL 1604704 OR6C2 olfactory receptor, family 6, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55498203 55499132 + 55845998 55846936 + 55452214 55453152 + 6480464;8554872 10706615;16541075;24152035 341416 Q9NZP2 ABBA01008383;AC122685;AF179766;AMYH02026546;NM_054105 AAF40351;AAI48631;NP_473446;Q9NZP2 Hs.524483 1749183;1782724;2220000 OR6C2__5932;SHGC-110866;SHGC-155577 HSA3;OR6C67 OTTHUMP00000242524;olfactory receptor 6C2 APPROVED protein-coding ENSG00000179695 HGNC:15436 17773 PROVISIONAL 1351333 OR5T3 olfactory receptor, family 5, subfamily T, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53359806 53360828 + 56019676 56020698 + 56252200 56253222 + 6480464;8554872 14983052;23251661 390154 Q8NGG3 AB065837;ABBA01021463;AC022882;AMYH02024832;BK004335;CH471076;NM_001004747 BAC06056;DAA04733;EAW73705;NP_001004747;Q8NGG3 Hs.553746 OR11-178;OR5T3Q OTTHUMP00000234244;olfactory receptor 5T3;olfactory receptor OR11-178 APPROVED protein-coding ENSG00000172489 HGNC:15297 15052 PROVISIONAL 1345773 OR6C4 olfactory receptor, family 6, subfamily C, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55597487 55598416 + 55945011 55945940 + 55551227 55552156 + 1580863;6480464;8554872 12477932;1316921;14983052;24152035;7509350 341418 Q8NGE1 AB065869;ABBA01008383;AC009779;AMYH02026546;BC137000;BC137001;BK004261;CH471054;CS248574;L19282;L19287;M87866;NM_001005494 AAA20162;AAA20165;AAA61072;AAI37001;AAI37002;BAC06087;CAJ56803;DAA04659;EAW96815;NP_001005494;Q8NGE1 Hs.495021;Hs.554552 2219384 OR6C4__5934 OR12-10 OTTHUMP00000242526;olfactory receptor 6C4;olfactory receptor OR12-10 APPROVED protein-coding ENSG00000179626 HGNC:19632 17774 PROVISIONAL 1351550 OR6B1 olfactory receptor, family 6, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138334371 138335306 + 143701090 143702025 + 144003997 144004932 + 6480464;8554872 12213199;12477932;12853948;14983052 135946 O95007 ABBA01000975;AC004853;AF399605;AMYH02016975;BC137042;BC137047;BK004216;CH236959;NM_001005281 AAI37043;AAI37048;AAK95090;DAA04614;EAL23796;NP_001005281;O95007 Hs.632031 OR7-3;OR7-9 OTTHUMP00000212426;olfactory receptor 6B1;olfactory receptor 7-3;olfactory receptor OR7-9 APPROVED protein-coding ENSG00000221813 HGNC:8354 15055 PROVISIONAL 1347254 OR5T2 olfactory receptor, family 5, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53339712 53340791 - 55999582 56000661 - 56232106 56233185 - 6480464;8554872 12477932;14983052 219464 Q8NGG2 AB065838;ABBA01021463;AC022882;AMYH02024832;BC136876;BK004334;CH471076;NM_001004746 AAI36877;BAC06057;DAA04732;EAW73704;NP_001004746;Q8NGG2 Hs.553627 OR11-177 OTTHUMP00000234243;olfactory receptor 5T2;olfactory receptor OR11-177 APPROVED protein-coding ENSG00000181718 HGNC:15296 15051 PROVISIONAL 1352046 OR6C5P olfactory receptor, family 6, subfamily C, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55357833 55358755 + 55705619 55706541 + 55311835 55312757 + 390320 ABBA01008382;AC122684;AMYH02026545;NG_004345 APPROVED pseudo HGNC:31292 INFERRED 1352413 OR6C6 olfactory receptor, family 6, subfamily C, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55340139 55341085 - 55688072 55689016 - 55294288 55295232 - 6480464;8554872 24152035 283365 A6NF89 ABBA01008382;AC122684;AMYH02026545;NM_001005493 A6NF89;NP_001005493 Hs.554555 OTTHUMP00000237923;olfactory receptor 6C6 APPROVED protein-coding ENSG00000188324 HGNC:31293 17775 PROVISIONAL 1342545 OR6C1 olfactory receptor, family 6, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55366602 55367540 + 55714384 55715322 + 55320600 55321538 + 1580863;6480464 12213199;12477932;16541075;20677014;24152035 390321 Q96RD1 ABBA01008382;AC122684;AF399506;AMYH02026545;BC136957;BC136965;CH471054;NM_001005182 AAI36958;AAI36966;AAK94991;EAW96806;NP_001005182;Q96RD1 Hs.553763 OST267 OTTHUMP00000237924;olfactory receptor 6C1 APPROVED protein-coding ENSG00000205330 HGNC:8355 11416 PROVISIONAL 1347665 OR6C64P olfactory receptor, family 6, subfamily C, member 64 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55568851 55569729 + 55916377 55917255 + 55522593 55523471 + 24152035 403281 ABBA01008383;AC122685;AMYH02026546;NG_004429 APPROVED pseudo HGNC:31294 INFERRED 1349043 OR6C65 olfactory receptor, family 6, subfamily C, member 65 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55446597 55447535 + 55794313 55795251 + 55400529 55401467 + 6480464;8554872 12477932;24152035 403282 A6NJZ3 ABBA01008383;AC125816;AMYH02026546;BC136897;BC136899;CH471054;NM_001005518 A6NJZ3;AAI36898;AAI36900;EAW96810;NP_001005518 Hs.554553 OTTHUMP00000242522;olfactory receptor 6C65 APPROVED protein-coding ENSG00000205328 HGNC:31295 15058 PROVISIONAL 1351296 OR6C66P olfactory receptor, family 6, subfamily C, member 66 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55434468 55435400 + 55782229 55783161 + 55388445 55389377 + 403283 ABBA01008383;AC125816;AMYH02026546;NG_004430 APPROVED pseudo HGNC:31296 INFERRED 1342577 OR6C69P olfactory receptor, family 6, subfamily C, member 69 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55308308 55309203 + 55656323 55657218 + 55262539 55263434 + 403285 ABBA01008382;AC122684;AMYH02026545;NG_004431 APPROVED pseudo HGNC:31298 INFERRED 1347505 OR6C68 olfactory receptor, family 6, subfamily C, member 68 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a seven-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2014] 12 12 12 q13.2 55538531 55539484 + 55886162 55887100 + 55492378 55493316 + 6480464;8554872 24152035 403284 A6NDL8 ABBA01008383;AC122685;AMYH02026546;CH471054;NG_034004;NM_001005519 A6NDL8;EAW96814;NP_001005519 Hs.626886 OTTHUMP00000242525;olfactory receptor 6C68 APPROVED protein-coding ENSG00000205327 HGNC:31297 17776 VALIDATED 1343219 OR6C3 olfactory receptor, family 6, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55377703 55378638 + 55725485 55726420 + 55331701 55332636 + 1580863;6480464;8554872 10706615;16541075;24152035 254786 Q9NZP0 ABBA01008382;AC122684;AF179770;AMYH02026545;CH471054;NM_054104 AAF40353;AAI48525;AAI53120;EAW96807;NP_473445;Q9NZP0 Hs.553653 HSA8;OST709 OTTHUMP00000242321;olfactory receptor 6C3 APPROVED protein-coding ENSG00000205329 HGNC:15437 15057 PROVISIONAL 1342600 OR6C71P olfactory receptor, family 6, subfamily C, member 71 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55422733 55423668 - 55770584 55771519 - 55376800 55377735 - 390324 ABBA01008383;AC125816;AMYH02026546;NG_004347 APPROVED pseudo HGNC:31300 INFERRED 1347303 OR6C72P olfactory receptor, family 6, subfamily C, member 72 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55329517 55330450 + 55677534 55678467 + 55283750 55284683 + 403288 ABBA01008382;AC122684;AMYH02026545;NG_004432 APPROVED pseudo HGNC:31301 INFERRED 1350920 OR6C74 olfactory receptor, family 6, subfamily C, member 74 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55293056 55293994 + 55641072 55642010 + 55247288 55248226 + 6480464;8554872 12477932;14983052;24152035 254783 A6NCV1 ABBA01008382;AC122684;AMYH02026545;BC140754;CH471054;NM_001005490 A6NCV1;AAI40755;EAW96805;NP_001005490 Hs.554556 OTTHUMP00000228695;olfactory receptor 6C74 APPROVED protein-coding ENSG00000197706 HGNC:31303 15060 PROVISIONAL 1353505 OR6C75 olfactory receptor, family 6, subfamily C, member 75 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55410961 55411899 + 55758895 55759833 + 55365111 55366049 + 6480464;8554872 24152035 390323 A6NL08 ABBA01008383;AC125816;AMYH02026546;CH471054;NM_001005497 A6NL08;EAW96808;NP_001005497 Hs.554554 OTTHUMP00000242383;olfactory receptor 6C75 APPROVED protein-coding ENSG00000187857 HGNC:31304 15061 PROVISIONAL 1347271 OR6C7P olfactory receptor, family 6, subfamily C, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55388655 55389593 + 55736622 55737560 + 55342838 55343776 + 390322 ABBA01008382;AC125816;AMYH02026546;NG_004346 APPROVED pseudo HGNC:31306 INFERRED 1603536 OR6D1P olfactory receptor, family 6, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41756975 41757787 + 45753757 45754569 + 45258309 45259121 + 12213199 220974 ABBA01050025;AF399475;AL512324;AMYH02022734;NG_004293 1757431 SHGC-144816 OR6D2P APPROVED pseudo HGNC:14849 INFERRED 1346205 OR6C70 olfactory receptor, family 6, subfamily C, member 70 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55515181 55516119 - 55862984 55863922 - 55469200 55470138 - 6480464;8554872 24152035 390327 A6NIJ9 ABBA01008383;AC122685;AMYH02026546;CH471054;NM_001005499 A6NIJ9;EAW96813;NP_001005499 Hs.632718 OTTHUMP00000245179;olfactory receptor 6C70 APPROVED protein-coding ENSG00000184954 HGNC:31299 15059 PROVISIONAL 1352611 OR6F1 olfactory receptor, family 6, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221167885 221168811 - 247875131 247876057 - 247711829 247712755 - 1580863;6480464;8554872 12213199;12477932;12908129;14983052 343169 Q8NGZ6 AB065619;ABBA01031790;AC118470;AF399604;AMYH02003140;AY284133;BC137142;BC137143;BK004460;BK004745;CH471148;CS248402;NM_001005286 AAI37143;AAI37144;AAK95089;BAC05846;CAJ56721;DAA04858;EAW77199;NP_001005286;Q8NGZ6 Hs.591529 2219386 OR6F1__5940 OR1-34;OR1-38;OST731 OTTHUMP00000038062;olfactory receptor 6F1;olfactory receptor OR1-34 pseudogene;olfactory receptor OR1-38 APPROVED protein-coding ENSG00000169214 HGNC:15027 17777 PROVISIONAL 1350971 OR6J1 olfactory receptor, family 6, subfamily J, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 2965704 2966693 - 23102660 23103649 - 22633755 22634744 - 6480464 79549 Q8NGC5 AB065892;ABBA01061281;AC023226;AC243945;AL160314;NG_002274 BAC06108;Q8NGC5 OR6J1P;OR6J2 APPROVED pseudo HGNC:14707 INFERRED 1351208 OR6C73P olfactory receptor, family 6, subfamily C, member 73 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55442299 55443074 + 55790060 55791057 + 55396276 55397273 + 403289 ABBA01008383;AC125816;AMYH02026546;NG_004433 APPROVED pseudo HGNC:31302 INFERRED 1352681 OR6K2 olfactory receptor, family 6, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131740163 131741137 - 158669468 158670442 - 158699678 158700652 - 1580863;6480464 12477932;14983052 81448 Q8NGY2 AB065634;ABBA01016625;AL513205;AMYH02002004;BC137022;BC137023;BK004196;CH471121;CS248418;NM_001005279 AAI37023;AAI37024;BAC05860;CAJ56729;DAA04594;EAW52815;NP_001005279;Q8NGY2 Hs.554489 OR1-17 OTTHUMP00000024378;olfactory receptor 6K2;olfactory receptor OR1-17 APPROVED protein-coding ENSG00000196171 HGNC:15029 15063 PROVISIONAL 1348899 OR6K1P olfactory receptor, family 6, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131735025 131735995 - 158664329 158665299 - 158694539 158695509 - 81449 ABBA01016625;AL513205;AMYH02002004;NG_004271 1723663 RH118729 APPROVED pseudo HGNC:15028 INFERRED 1352543 OR6K3 olfactory receptor, family 6, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131757642 131758589 - 158686958 158687905 - 158717168 158718115 - 6480464;8554872 14983052;16710414 391114 Q8NGY3 AB065633;ABBA01016625;AL513205;AMYH02002004;BK004197;CH471121;NG_033996;NM_001005327 BAC05859;DAA04595;EAW52814;NP_001005327;Q8NGY3 Hs.554488 2109607 OR6K3__5941 OR1-18 OTTHUMP00000024379;olfactory receptor 6K3;olfactory receptor OR1-18;seven transmembrane helix receptor APPROVED protein-coding ENSG00000203757 HGNC:15030 15064 VALIDATED 1344692 OR6K4P olfactory receptor, family 6, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131764638 131765519 - 158693903 158694857 - 158724113 158725067 - 11181995 128370 Q8NGY4 AB065632;ABBA01016624;AL513205;AMYH02002004;CH471121;NG_004288 BAC05858;EAW52813 APPROVED pseudo HGNC:15031 INFERRED 1343868 OR6K5P olfactory receptor, family 6, subfamily K, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131782731 131783578 - 158712358 158713205 - 158742568 158743415 - 391115 ABBA01016624;AL513205;AMYH02002005;NG_004363 APPROVED pseudo HGNC:15032 INFERRED 1346436 OR6L1P olfactory receptor, family 6, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128131660 128132739 + 135388560 135389639 - 133575056 133576135 - 8782825 390012 AC245077;AL161645;NG_002282 APPROVED pseudo HGNC:15124 INFERRED 1351378 OR6K6 olfactory receptor, family 6, subfamily K, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131794979 131796010 + 158724606 158725637 + 158754816 158755847 + 6480464;8554872 12477932;14983052;16710414 128371 Q8NGW6 AB065650;ABBA01016624;AL513205;AMYH02002005;BC140743;BK004198;CH471121;NM_001005184 AAI40744;BAC05876;DAA04596;EAW52811;NP_001005184;Q8NGW6 Hs.553591 2219388 OR6K6__5942 OR1-21 OTTHUMP00000024381;olfactory receptor 6K6;olfactory receptor OR1-21 APPROVED protein-coding ENSG00000180433 HGNC:15033 17778 PROVISIONAL 1349290 OR6L2P olfactory receptor, family 6, subfamily L, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128273015 128273939 + 135243898 135244822 - 133430394 133431318 - 81356 ABBA01006218;ABBA01006219;ABBA01006220;ABBA01006221;ABBA01006222;AL161645;AMYH02024095;NG_004252 APPROVED pseudo HGNC:15125 INFERRED 1350278 OR6C76 olfactory receptor, family 6, subfamily C, member 76 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55472093 55473030 + 55820038 55820976 + 55426254 55427192 + 6480464;8554872 24152035 390326 A6NM76 ABBA01008383;AC125816;AMYH02026546;CH471054;NM_001005183 A6NM76;EAW96811;NP_001005183 Hs.553764 OTTHUMP00000242523;olfactory receptor 6C76 APPROVED protein-coding ENSG00000185821 HGNC:31305 15062 PROVISIONAL 1349437 OR6M2P olfactory receptor, family 6, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120871067 120872012 - 123711666 123712611 - 123840958 123841903 - 79546 AMYH02025719;AP000868;NG_004155 1856011;5118698 D11S2572;D11S3561 APPROVED pseudo HGNC:14713 INFERRED 1352678 OR6M3P olfactory receptor, family 6, subfamily M, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120891791 120892633 - 123732389 123733231 - 123861681 123862523 - 79321 ABBA01031267;AMYH02025719;AP000868;NG_004140 APPROVED pseudo HGNC:14741 INFERRED 1347518 OR6N1 olfactory receptor, family 6, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131805908 131806846 - 158735534 158736472 - 158765744 158766682 - 1580863;6480464 12213199;12477932;14983052;16710414 128372 Q6IFR3;Q8NGY5 AB065631;ABBA01016624;AF399608;AL513205;AMYH02002005;BC146847;BK004199;CH471121;CS248108;NM_001005185 AAI46848;AAK95093;BAC05857;CAJ56581;DAA04597;EAW52810;NP_001005185;Q8NGY5 Hs.553592 2107471 OR6N1__5944 OR1-22 OTTHUMP00000024382;olfactory receptor 6N1;olfactory receptor OR1-22 APPROVED protein-coding ENSG00000197403 HGNC:15034 15066 PROVISIONAL 1350201 OR6N2 olfactory receptor, family 6, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131816845 131817798 - 158746472 158747425 - 158776682 158777635 - 1580863;6480464 14983052 81442 Q8NGY6 AB065630;ABBA01016624;AL513205;AMYH02002005;BK004200;CH471121;CS248420;NM_001005278 BAC05856;CAJ56730;DAA04598;EAW52809;NP_001005278;Q8NGY6 Hs.554487 OR1-23 OTTHUMP00000024383;olfactory receptor 6N2;olfactory receptor OR1-23 APPROVED protein-coding ENSG00000188340 HGNC:15035 15067 PROVISIONAL 1343962 OR6R1P olfactory receptor, family 6, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221288747 221289675 - 247996619 247997547 - 247833317 247834245 - 81440 ABBA01031793;AC099571;AMYH02003140;NG_004270 APPROVED pseudo HGNC:15037 INFERRED 1349555 OR6E1P olfactory receptor, family 6, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 3034406 3035331 + 23171353 23172278 + 22702144 22703069 + 12213199 79323 ABBA01061283;AF399346;AL160314;AMYH02028847;NG_002244 APPROVED pseudo HGNC:14739 INFERRED 1347277 OR6P1 olfactory receptor, family 6, subfamily P, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131603484 131604437 - 158532441 158533394 - 158562651 158563604 - 6480464 14983052;16710414;16939646 128366 Q8NGX9 AB065637;ABBA01016625;AL160283;AMYH02002004;BK004193;NM_001160325 BAC05863;DAA04591;NP_001153797;Q8NGX9 Hs.723122 OTTHUMP00000021113;olfactory receptor 6P1;olfactory receptor OR1-12;seven transmembrane helix receptor APPROVED protein-coding ENSG00000186440 HGNC:15036 VALIDATED 1352757 OR6Q1 olfactory receptor, family 6, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55155488 55156441 + 57798425 57799378 + 58030953 58031906 + 1580863 12213199;12477932;14983052 219952 Q8NGQ2 AB065737;ABBA01021483;AF399609;AMYH02024853;AP003401;BC151146;BC151147;BK004291;CH471076;CS248226;NM_001005186 AAI51147;AAI51148;AAK95094;BAC05958;CAJ56638;DAA04689;EAW73795;NP_001005186;Q8NGQ2 Hs.690432 1782234 SHGC-101389 OR11-226 OTTHUMP00000239564;olfactory receptor 6Q1;olfactory receptor OR11-226 APPROVED protein-coding ENSG00000172381;ENSG00000279051 HGNC:15302 15068 VALIDATED 1343419 OR6R2P olfactory receptor, family 6, subfamily R, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p21.3 20616849 20617659 + 21654598 21655408 + 21797086 21797896 + 403294 ABBA01005495;AC129925;AMYH02017587;NG_004434 APPROVED pseudo HGNC:31307 INFERRED 1348726 OR6S1 olfactory receptor, family 6, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 969732 970727 - 21108855 21109850 - 20640696 20641691 - 6480464;8554872 14983052;18976975 341799 Q8NH40 AB065561;ABBA01061233;AL163636;AMYH02028826;BK004263;CH471078;CS248264;NM_001001968 BAC05799;CAJ56656;DAA04661;EAW66452;NP_001001968;Q8NH40 Hs.513132 OR14-37;OR6S1Q OTTHUMP00000244877;olfactory receptor 6S1;olfactory receptor OR14-37 APPROVED protein-coding ENSG00000181803 HGNC:15363 17779 PROVISIONAL 1345888 OR6U2P olfactory receptor, family 6, subfamily U, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55657889 55658820 + 56005407 56006338 + 55611623 55612554 + 390329 ABBA01008383;AC009779;AMYH02026546;NG_004348 OR6U1P APPROVED pseudo HGNC:19631 INFERRED 1344052 OR6M1 olfactory receptor, family 6, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120835524 120836465 - 123676116 123677057 - 123805408 123806349 - 1580863;6480464;8554872 12213199;12477932;12908129;14983052 390261 Q8NGM8 AB065762;ABBA01031268;AF399606;AMYH02025719;AP000868;AY284165;BC136929;BC136931;BK004493;CH471065;CS248202;NM_001005325 AAI36930;AAI36932;AAK95091;BAC05982;CAJ56627;DAA04891;EAW67556;NP_001005325;Q8NGM8 Hs.557924 2219390 OR6M1__5943 OR11-271 OTTHUMP00000231702;olfactory receptor 6M1;olfactory receptor OR11-271;olfactory receptor, family 6, subfamily M, member 2 pseudogene APPROVED protein-coding ENSG00000196099 HGNC:14711 15065 PROVISIONAL 1349187 OR6X1 olfactory receptor, family 6, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120783678 120784616 - 123624288 123625226 - 123753580 123754518 - 1580863;6480464;8554872 12477932;14983052;23967269 390260 Q8NH79 AB065510;ABBA01031269;AMYH02025719;AP000868;BC136855;BC136856;BK004362;CH471065;CS248142;NM_001005188 AAI36856;AAI36857;BAC05758;CAJ56598;DAA04760;EAW67555;NP_001005188;Q8NH79 Hs.553759 1298267;2219394 D11S4464;OR6X1__5948 OR11-270 OTTHUMP00000231701;olfactory receptor 6X1;olfactory receptor OR11-270 APPROVED protein-coding ENSG00000221931 HGNC:14737 15070 PROVISIONAL 1350213 OR6W1P olfactory receptor, family 6, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 137596243 137597744 - 142759381 142760882 - 143062284 143063785 - 6480464 12213199;12477932 89883 Q8NGD8 AB065875;AB065957;ABBA01034132;AC099652;AC245136;AF286696;AF399607;BC069382;BC074961;BC074962;CH236959;NR_002140 BAC06093;BAC06170 Hs.339818 5492711;5493957 UniSTS:480518;UniSTS:482110 OR6W1;sdolf APPROVED pseudo HGNC:15091 PROVISIONAL 1347188 OR6Y1 olfactory receptor, family 6, subfamily Y, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131587961 131588938 - 158516918 158517895 - 158547128 158548105 - 1580863;6480464;8554872 14983052;16710414;23222517 391112 Q8NGX8 AB065638;ABBA01016625;AL365440;AMYH02002004;BK004192;CH471121;CS248228;NM_001005189 BAC05864;CAJ56639;DAA04590;EAW52823;NP_001005189;Q8NGX8 Hs.553780 OR1-11;OR6Y2 OTTHUMP00000021111;olfactory receptor 6Y1;olfactory receptor 6Y2;olfactory receptor OR1-11 APPROVED protein-coding ENSG00000197532 HGNC:14823 15071 PROVISIONAL 1349363 OR7A11P olfactory receptor, family 7, subfamily A, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14922947 14923935 + 15027226 15028214 + 14916414 14917402 + 26669 ABBA01051086;AC004659;AMYH02035635;NG_002215 1341591;2172748 D19S415;SHGC-2308 OR7A11;OST527 APPROVED pseudo HGNC:8357 INFERRED 1345347 OR6V1 olfactory receptor, family 6, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 137586300 137587241 + 142749438 142750379 + 143052341 143053282 + 6480464 12477932;12690205;12732197;14983052 346517 Q8N148 AB065697;AB065873;ABBA01034132;AC099652;AC245136;BC137044;BK004392;CH236959;CH471198;CS248340;NM_001001667 AAI37045;BAC05920;BAC06091;CAJ56692;DAA04790;EAL23780;EAW51889;NP_001001667;Q8N148 Hs.554721 2110623 OR6V1__5947 GPR138 OTTHUMP00000212866;olfactory receptor 6V1;olfactory receptor OR7-3 APPROVED protein-coding ENSG00000225781 HGNC:15090 11417 PROVISIONAL 1351094 OR7A15P olfactory receptor, family 7, subfamily A, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14933838 14934487 + 15038124 15038773 + 14927312 14927961 + 12213199;9500546 26335 ABBA01051086;AC004659;AF399435;AMYH02035635;NG_002311;U86253;U86254;U86256 OR19-1;OR19-134;OR19-146;OR7A16P;OR7A20P;OR7A4P APPROVED pseudo HGNC:8361 INFERRED 1348742 OR7A18P olfactory receptor, family 7, subfamily A, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14893403 14893829 - 14997658 14998084 - 14886846 14887272 - 81081 ABBA01051086;AC002988;AMYH02035635;NG_002278 APPROVED pseudo HGNC:15399 INFERRED 1352801 OR7A19P olfactory receptor, family 7, subfamily A, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 45783731 45784463 + 46986357 46987089 + 46592574 46593306 + 387853 ABBA01031460;AC008035;AMYH02026409;NG_004313 APPROVED pseudo HGNC:15337 INFERRED 1346902 OR7A1P olfactory receptor, family 7, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14898416 14899361 - 15002671 15003616 - 14891859 14892804 - 390895 ABBA01051086;AC002988;AMYH02035635;NG_004361 OLF4p;OR19-3;OR7A6P;hg513 APPROVED pseudo HGNC:8364 INFERRED 1344490 OR6T1 olfactory receptor, family 6, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120972755 120973726 - 123813574 123814545 - 123942867 123943838 - 1580863;6480464;8554872 12477932;14983052;19322201;22505724 219874 Q8NGN1 AB065759;ABBA01031265;AC019108;AMYH02025719;AP002407;BC136906;BK004315;CH471065;CS248094;NM_001005187 AAI36907;BAC05979;CAJ56574;DAA04713;EAW67562;NP_001005187;Q8NGN1 Hs.553638 2219392 OR6T1__5946 OR11-277 OTTHUMP00000231615;olfactory receptor 6T1;olfactory receptor OR11-277 APPROVED protein-coding ENSG00000181499 HGNC:14848 15069 PROVISIONAL 1351275 OR7A2P olfactory receptor, family 7, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14870144 14871820 - 14974398 14976074 - 14863586 14865262 - 12213199;15057824 390894 Q8NGA2 AB065924;ABBA01051085;AC005255;AMYH02035635;NG_004087 BAC06139;Q8NGA2 OLF4p;OR19-18;OR7A2;OR7A7;hg1003 APPROVED pseudo HGNC:8370 INFERRED 1343369 OR7A3P olfactory receptor, family 7, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14909892 14910540 - 15014139 15014785 - 14903327 14903973 - 12213199;9500546;9787077 26668 ABBA01051086;AC098791;AF065859;AMYH02035635;NG_002170 OR11-7b;OR14-11;OR14-59;OR19-12;OR7A12P;OR7A13P;OR7A14;OR7A14P APPROVED pseudo HGNC:8366 INFERRED 1353918 OR7A5 olfactory receptor, family 7, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14832918 14835055 - 14937139 14939276 - 14826327 14835201 - 1580863;6480464 12213199;12477932;1370859;14983052;15057824;15489334;21832049;9119360;9268701 26659 Q15622 ABBA01051082;AC005255;AF399543;AK312475;AMYH02035634;BC104809;BK004221;CH471106;NM_017506;X64976;X89677;XM_006722722;Y10530 AAC25626;AAI04810;AAK95028;BAG35379;CAA61824;CAA71558;DAA04619;EAW84450;NP_059976;Q15622;XP_006722785 Hs.137573;Hs.690626 5492897;5494003 UniSTS:480699;UniSTS:483182 HTPCR2 olfactory receptor 7A5;olfactory receptor OR19-17;olfactory receptor TPCR92;olfactory receptor, family 7, subfamily A, member 5 pseudogene APPROVED protein-coding HGNC:8368 17782 VALIDATED 1353515 OR7A8P olfactory receptor, family 7, subfamily A, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14858674 14859306 - 14962923 14963555 - 14852111 14852743 - 12213199 26661 ABBA01051084;AC005255;AF399434;AMYH02035635;NG_003166 HG83;OR19-11;OR7A9P;OST042 APPROVED pseudo HGNC:8371 INFERRED 1604685 OR7A10 olfactory receptor, family 7, subfamily A, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14847539 14848468 - 14951760 14952689 - 14840948 14841877 - 6480464 12213199;14983052;15057824 390892 O76100 ABBA01051082;AC005255;AF399542;AMYH02035635;BK004222;CH471106;NM_001005190 AAC25627;AAK95027;DAA04620;EAW84451;NP_001005190;O76100 Hs.553776 BC85395_3;OR19-18;OST027 olfactory receptor 7A10;olfactory receptor OR19-18 APPROVED protein-coding ENSG00000127515 HGNC:8356 17780 PROVISIONAL 1347515 OR7D1P olfactory receptor, family 7, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9241467 9242115 + 9346020 9346668 + 9235344 9235992 + 9500546 26656 ABBA01029982;AC006271;AMYH02035463;NG_002212;U86251 OR19-131;OR19-A;OR7D3;OR7D3P APPROVED pseudo ENSG00000188314 HGNC:8377 INFERRED 1343510 OR7C1 olfactory receptor, family 7, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14805756 14806718 - 14909943 14946188 - 14799131 14835376 - 1580863;6480464 12213199;12477932;14983052;15057824;9119360;9268701 26664 O76099;Q17RS1 ABBA01051081;AC005255;AF399546;AMYH02035633;BC117212;BK004220;NM_198944;X89676;XM_005259853;XM_006722723 AAC25625;AAI17213;AAK95031;ADR83145;CAA61823;DAA04618;NP_945182;O76099;XP_005259910;XP_006722786 Hs.466053 5492985 UniSTS:483557 CIT-HSP-146E8;HSTPCR86P;OR19-5;OR7C4;TPCR86 olfactory receptor 7C1;olfactory receptor 7C4;olfactory receptor OR19-16;olfactory receptor TPCR86;olfactory receptor, family 7, subfamily C, member 4 APPROVED protein-coding ENSG00000127530 HGNC:8373 17783 VALIDATED 1344773 OR7C2 olfactory receptor, family 7, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14948010 14948972 + 15052301 15053260 + 14941489 14942448 + 1580863;6480464;8554872 12213199;12477932;14983052;15057824;22552337;9500546 26658 O60412 ABBA01051087;AC004659;AF399545;AMYH02035637;BC110063;BK004213;CH471106;NM_012377;U86255 AAC15755;AAC39626;AAI40247;AAI41625;AAK95030;DAA04611;EAW84455;NP_036509;O60412 Hs.589620 5492841 UniSTS:483013 CIT-HSP-87M17;OR19-18;OR7C3 olfactory receptor 19-18;olfactory receptor 7C2;olfactory receptor 7C3;olfactory receptor OR19-22;olfactory receptor, family 7, subfamily C, member 3 APPROVED protein-coding ENSG00000127529 HGNC:8374 15072 PROVISIONAL 1604782 OR7E100P olfactory receptor, family 7, subfamily E, member 100 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q13.2 110651716 110652730 - 112243033 112244047 - 112524186 112525200 - 81430 ABBA01061663;AC092692;AMYH02007442;NG_004266 OR7E135P APPROVED pseudo HGNC:15048 INFERRED 1318908 OR7A17 olfactory receptor, family 7, subfamily A, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14886987 14887916 - 14991238 14992167 - 14880426 14881355 - 1580863;6480464 12213199;12477932;1370859;14983052;15057824;15489334 26333 O14581;Q9UEB1 ABBA01051086;AC002988;AC005255;AF399541;AMYH02035635;BC101587;BC117357;BK004206;CH471106;NM_030901;X64993 AAB82060;AAC25628;AAI01588;AAI17358;AAK95026;ADR82902;DAA04604;EAW84453;NP_112163;O14581 Hs.247717 5492595;5492895 UniSTS:481739;UniSTS:483179 BC85395_4;HTPCRX19;MGC126636 olfactory receptor 7A17;olfactory receptor OR19-20 APPROVED protein-coding ENSG00000185385 HGNC:8363 17781 PROVISIONAL 1353359 OR7D2 olfactory receptor, family 7, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9191715 9194938 + 9296270 9299493 + 9185594 9188817 + 6480464;8554872 12175488;12213199;1370859;14702039;14983052 162998 Q96RA2 AB065928;ABBA01029983;AC011464;AF399537;AK095468;AMYH02035461;BK004265;CH471106;CS248310;NM_175883;X64975 AAI41585;AAK95022;BAC04554;BAC06143;CAJ56678;DAA04663;EAW84017;NP_787079;Q96RA2 Hs.531755 5020881;5020948;5022578;5022651;5109281;5493221 D11S2921;D1S1423;D1S1425;G35510;L17709;UniSTS:485363 FLJ38149;HTPCRH03;OR19-10;OR19-4 olfactory receptor 19-4;olfactory receptor 7D2;olfactory receptor OR19-10 APPROVED protein-coding ENSG00000188000 HGNC:8378 17784 VALIDATED 1346280 OR7D4 olfactory receptor, family 7, subfamily D, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9220023 9220961 - 9324526 9325547 - 9213850 9214871 - 1580863;6480464;8554872 12213199;12477932;14983052;17873857;21093532;22044667;22567099 125958 Q8NG98 AB065929;ABBA01029983;AC011464;AF399429;AMYH02035461;BC137147;BC137162;BK004226;CH471106;CS248314;EU049291;NG_027953;NM_001005191 AAI37148;AAI37163;ABV66282;BAC06144;CAJ56680;DAA04624;EAW84021;NP_001005191;Q8NG98 Hs.446910 OR19-7;OR19-B;OR19B;OR7D4P;hg105 odorant receptor family 7 subfamily D member 4 RT;odorant receptor family subfamily D member 4RT;olfactory receptor 7D4;olfactory receptor OR19-7;olfactory receptor, family 7, subfamily D, member 4 pseudogene APPROVED protein-coding ENSG00000174667 HGNC:8380 15073 611538 REVIEWED 1348151 OR7E101P olfactory receptor, family 7, subfamily E, member 101 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q14.13 28090164 28090837 + 47034671 47035344 + 46460536 46461209 + 81138 AL138686;AL157365;NG_004175 2220514 UniSTS:483775 APPROVED pseudo HGNC:15342 INFERRED 1605615 OR7E104P olfactory receptor, family 7, subfamily E, member 104 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q21.31 45311529 45312274 - 64411061 64411806 - 63836928 63837673 - 81137 ABBA01050256;AL137719;AL445238;AMYH02028167;NG_004174 Hs.735050 APPROVED pseudo HGNC:15343 INFERRED 1347846 OR7E102P olfactory receptor, family 7, subfamily E, member 102 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q11.1 90538137 90539132 - 96212327 96213322 + 95546579 95547574 + 9847074 400984 ABBA01009504;AC009237;AMYH02004307;NG_004385 OR7E102 APPROVED pseudo HGNC:15043 INFERRED 1349640 OR7E106P olfactory receptor, family 7, subfamily E, member 106 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q21 32096808 32097754 - 52229766 52230792 - 51763048 51764074 - 12213199 81115 ABBA01018156;AF399387;AL079307;AMYH02029184;NG_004170 OR14-NP2;OR7E34P;OR7E40P;OST011;OST215 APPROVED pseudo HGNC:15365 INFERRED 1351798 OR7E105P olfactory receptor, family 7, subfamily E, member 105 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q21 32090704 32091699 + 52223709 52224704 + 51756991 51757986 + 12213199;14983052 81116 Q8NGD7 AB065878;ABBA01018156;AF399405;AL079307;AMYH02029184;BK004809;NG_004171 OR14-NP1 APPROVED pseudo HGNC:15364 INFERRED 1353689 OR7E108P olfactory receptor, family 7, subfamily E, member 108 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q22.2 63948160 63949183 - 93513500 93514522 - 90751218 90752240 - 81363 ABBA01012841;AL354862;AL446024;AMYH02021198;NG_004254 OST726 APPROVED pseudo HGNC:15117 INFERRED 1349880 OR7E109P olfactory receptor, family 7, subfamily E, member 109 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q22.2 63939435 63940381 - 93504784 93505730 - 90742502 90743448 - 12213199 401540 ABBA01012841;AF399394;AL446024;AMYH02021198;NG_004386 OR7E113P;OST721 APPROVED pseudo HGNC:15118 INFERRED 1342642 OR7E10P olfactory receptor, family 7, subfamily E, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 11525428 11526414 - 12560561 12561547 - 12703052 12704038 - 12213199;9787077 10823 ABBA01021634;AC068587;AF399403;AMYH02017469;NG_002183 OR11-1 APPROVED pseudo HGNC:8381 INFERRED 1352117 OR7E110P olfactory receptor, family 7, subfamily E, member 110 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 p13 14957750 14958345 - 15028875 15029470 - 14986876 14987471 - 81354 ABBA01034601;AL360083;AMYH02022205;NG_004251 OR7E68P;OR7E71P;OR7E72P;OR7E73P;OR7E74P;OR7E75P;OR912-108;OR912-109;OR912-110;OR912-46;hg523;hg674 APPROVED pseudo HGNC:15126 INFERRED 1349029 OR7E115P olfactory receptor, family 7, subfamily E, member 115 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 p13 14978663 14979601 - 15049787 15050725 - 15007788 15008726 - 12213199;14983052 81353 ABBA01034601;AF399411;AL157391;AMYH02022205;BK004797;NG_004692 OR10-2;OST704 APPROVED pseudo HGNC:15127 INFERRED 1605616 OR7E111P olfactory receptor, family 7, subfamily E, member 111 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q21.32 49378875 49379855 + 68476376 68477356 + 67902244 67903224 + 81136 ABBA01050293;AL353580;AMYH02028205;NG_004173 APPROVED pseudo HGNC:15344 INFERRED 1351088 OR7E117P olfactory receptor, family 7, subfamily E, member 117 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 3626122 3627147 - 3620873 3621898 - 3599643 3600668 - 399857 ABBA01032057;AC060812;AMYH02024224;NG_004384 OST716 APPROVED pseudo HGNC:15303 INFERRED 1343886 OR7E116P olfactory receptor, family 7, subfamily E, member 116 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q22.2 63429029 63430054 + 92994381 92995406 + 90232099 90233124 + 12213199 81358 ABBA01012839;AF399421;AL389888;AMYH02021193;NG_004253 OR7E112P;OST733 APPROVED pseudo HGNC:15122 INFERRED 1354022 OR7E11P olfactory receptor, family 7, subfamily E, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 64836308 64836971 - 67503149 67503812 - 67735678 67736341 - 9787077 10822 ABBA01024026;AF065853;AMYH02024998;AP003385;NG_002181 OR11-2;OR7E144P APPROVED pseudo HGNC:8382 INFERRED 1605781 OR7E121P olfactory receptor, family 7, subfamily E, member 121 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 p12.3 76391559 76392581 - 75647801 75648823 - 75598650 75599672 - 402133 ABBA01030988;AC108724;AC244188;NG_004395 APPROVED pseudo HGNC:15049 INFERRED 1605613 OR7E128P olfactory receptor, family 7, subfamily E, member 128 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 68906411 68907442 + 71604454 71605485 + 71893408 71894439 + 81175 ABBA01017544;AMYH02025068;AP002495;NG_004186 APPROVED pseudo HGNC:15305 INFERRED 1352731 OR7E125P olfactory receptor, family 7, subfamily E, member 125 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 p23.1 7104141 7105109 - 7246619 7247587 - 6480464 11705801 389616 Q8NHA1 AB065482;AC245425;AF228730;AF359416;NG_004256 BAC05735 Hs.457899 PJCG6 APPROVED pseudo HGNC:15098 INFERRED 1605612 OR7E126P olfactory receptor, family 7, subfamily E, member 126 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 68915905 68917323 + 71613950 71615368 + 71902904 71904322 + 12213199;7566098;9787077 81176 AB065487;ABBA01017544;AF065852;AF399380;AMYH02025068;AP000719;NG_002280 2021540;2100066 REN81761;stSG606540 OR11-1;hg500 APPROVED pseudo HGNC:15304 INFERRED 1342530 OR7E129P olfactory receptor, family 7, subfamily E, member 129 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q22.1 128167311 128168335 - 129740398 129741422 - 130021555 130022579 - 12213199 391576 AB065488;ABBA01059211;AC083906;AF399416;AMYH02007654;NG_004264 APPROVED pseudo HGNC:15052 INFERRED 1344637 OR7E12P olfactory receptor, family 7, subfamily E, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15 3401643 3402584 - 3411937 3413145 - 3390707 3391915 - 6480464 12213199;7829101;9787077 10821 ABBA01032064;AC123788;AF065854;AF399383;AMYH02024223;BI495655;NR_044999 Hs.637689;Hs.741779 2021540;5017104 REN81761;REN81769 HG1058;OR11-3;OR7E58P;OR7E79P;OR7E81P;OST021 APPROVED pseudo ENSG00000189398 HGNC:8383 VALIDATED 1350838 OR7E130P olfactory receptor, family 7, subfamily E, member 130 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.2 123833012 123833974 + 125422229 125423191 + 125703385 125704347 + 389144 ABBA01016408;AF186996;AMYH02007580;NG_004314 OST702 APPROVED pseudo HGNC:15053 INFERRED 1347472 OR7E138P olfactory receptor, family 7, subfamily E, member 138 pseudogene 282730 HGNC:19559 1343275 OR7E140P olfactory receptor, family 7, subfamily E, member 140 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 p13.31 8567375 8568370 - 8414779 8415774 - 12477932 344729 AC092865;NG_004309 APPROVED pseudo HGNC:19561 INFERRED 1352217 OR7E148P olfactory receptor, family 7, subfamily E, member 148 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 p13.31 8580257 8581209 - 8427661 8428613 - 282801 AC092865;NG_004303 OR7E150P APPROVED pseudo HGNC:19642 INFERRED 1351380 OR7E145P olfactory receptor, family 7, subfamily E, member 145 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 64823088 64824113 - 67489930 67490955 - 67722459 67723484 - 390215 ABBA01024026;AMYH02024998;AP003385;NG_004336 APPROVED pseudo HGNC:19618 INFERRED 1350242 OR7E149P olfactory receptor, family 7, subfamily E, member 149 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 p13.31 8589998 8590978 - 8437402 8438382 - 282756 AC092865;NG_004297 APPROVED pseudo HGNC:19589 INFERRED 1346100 OR7D11P olfactory receptor, family 7, subfamily D, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9222311 9222512 + 9326864 9327065 + 9216188 9216389 + 403295 ABBA01029983;AC011464;AMYH02035461;NG_005822;NG_027953 APPROVED pseudo HGNC:31308 INFERRED 1346579 OR7E14P olfactory receptor, family 7, subfamily E, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.1 17200722 17201373 + 17073433 17074591 + 17051886 17053044 + 12477932;9787077 10819 Q6PK25 ABBA01061071;AC116533;AF065856;AMYH02024378;BC008657;NR_045002 AAH08657 Hs.523504 OR11-5;OR7E151P APPROVED pseudo ENSG00000184669 HGNC:8385 VALIDATED 1350111 OR7E136P olfactory receptor, family 7, subfamily E, member 136 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 6876165 6877131 - 6906287 6907253 - 6866656 6867622 - 9847074 155340 ABBA01056512;AC079804;AMYH02015186;NG_004291 OR7E139P;OR7E147P APPROVED pseudo HGNC:19557 INFERRED 1353733 OR7E122P olfactory receptor, family 7, subfamily E, member 122 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 p25.3 8664702 8665622 + 8729920 8730840 + 8688234 8689154 + 81428 ABBA01020417;AC034187;AMYH02006221;NG_004265 OST719 APPROVED pseudo ENSG00000215160 HGNC:15050 INFERRED 1353945 OR7E156P olfactory receptor, family 7, subfamily E, member 156 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 q21.31 64311568 64316701 + 63737435 63742568 + 6480464 12477932;14702039 283491 ABBA01050253;AK097469;AK097490;AK097573;AL445989;AMYH02028167;BC113028;BC113029;NR_002171 Hs.363054;Hs.694575 APPROVED pseudo HGNC:31311 VALIDATED 1344575 OR7E155P olfactory receptor, family 7, subfamily E, member 155 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q14.11 23070478 23071503 - 42013973 42014998 - 41439837 41440862 - 403297 ABBA01021268;AL731858;AMYH02027922;NG_004435 APPROVED pseudo HGNC:31310 INFERRED 1343587 OR7E158P olfactory receptor, family 7, subfamily E, member 158 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 10906692 10907593 - 11777405 11778304 - 11919896 11920795 - 392194 ABBA01026877;AC107918;AC244249;NG_004376 APPROVED pseudo HGNC:31232 INFERRED 1345998 OR7E157P olfactory receptor, family 7, subfamily E, member 157 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 p23 7449510 7450478 + 7591988 7592956 + 403219 AC134684;AMYH02017307;NG_004633 APPROVED pseudo HGNC:31231 INFERRED 1345051 OR7E159P olfactory receptor, family 7, subfamily E, member 159 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q22.1 32105501 32105809 - 52238506 52238814 - 51771788 51772096 - 403299 ABBA01018156;AL079307;AMYH02029184;NG_004436 APPROVED pseudo HGNC:31312 INFERRED 1605113 OR7E15P olfactory receptor, family 7, subfamily E, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 11518753 11519408 - 12553879 12554534 - 12696370 12697025 - 12213199;9787077 8588 ABBA01021634;AC068587;AF399386;AMYH02017469;NG_002168 OR11-392;OR7E42P;OR7E80P;OST001 APPROVED pseudo HGNC:8386 INFERRED 1348707 OR7E154P olfactory receptor, family 7, subfamily E, member 154 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 p23 7562684 7563640 - 7705162 7706118 - 14702039 403296 AB065483;AC084121;AK122996;AX645923;NG_004634 BAC05736;CAD69097 Hs.457899 5110943 D7S1662 FLJ16768 APPROVED pseudo HGNC:31309 INFERRED 1348777 OR7E160P olfactory receptor, family 7, subfamily E, member 160 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 10984468 11004704 - 11855115 11892149 - 11997606 12034640 - 402333 ABBA01026874;ABBA01026875;AC107918;AC130366;AMYH02017445;NG_004399 APPROVED pseudo HGNC:31233 INFERRED 1348210 OR7E161P olfactory receptor, family 7, subfamily E, member 161 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 10915608 10916603 - 11786077 11787072 - 11928568 11929563 - 389626 ABBA01026877;AC107918;AC244249;NG_004315 APPROVED pseudo HGNC:31234 INFERRED 7207649 OR7E163P olfactory receptor, family 7, subfamily E, member 163, pseudogene 4 p16.3 3891243 3891892 - 100131415 ABBA01008228;AC147876;AMYH01013898 pseudo HGNC:45040 MODEL 1606626 OR7E162P olfactory receptor, family 7, subfamily E, member 162 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 3800802 3801836 - 3903233 3904267 - 3901506 3902540 - 12213199 442101 ABBA01008228;AC147876;AF399373;AMYH02008639;NG_004863 OR7E77;OR7E77P;OST060 APPROVED pseudo ENSG00000234386 HGNC:28374 INFERRED 1354415 OR7E13P olfactory receptor, family 7, subfamily E, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13-q14.3 83855035 83855688 - 86543648 86544301 - 86832606 86833259 - 6480464 11705801;12213199;9787077 10820 ABBA01017320;AF065855;AF238487;AF399398;AMYH02025237;AP000654;NG_002177 Hs.684491 OR11-4;OR7E44P;OST022;PJCG2 APPROVED pseudo HGNC:8384 INFERRED 1345255 OR7E16P olfactory receptor, family 7, subfamily E, member 16 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9197550 9198198 + 9302105 9302753 + 9191429 9192077 + 9500546 26473 ABBA01029983;AC011464;AMYH02035461;NG_002189;U86252 OR19-133;OR19-9;OR7E17P;OR7E60P APPROVED pseudo HGNC:8387 INFERRED 1353005 OR7E18P olfactory receptor, family 7, subfamily E, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9267098 9267918 - 9371653 9372473 - 9260977 9261797 - 1580863 9119360 390885 Q15618 ABBA01029979;AC006271;AMYH02035464;NG_004360;X89673 CAA61820 Hs.381327 5017104 REN81769 HSTPCR26P;OR19-14;OR7E61;OR7E98P;TPCR26 APPROVED pseudo HGNC:8389 INFERRED 1348693 OR7E1P olfactory receptor, family 7, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 65075208 65076230 - 67741705 67742727 - 67974234 67975256 - 9847074 341128 ABBA01024020;AC004923;AMYH02025000;NG_004307 APPROVED pseudo HGNC:8391 INFERRED 1346922 OR7E19P olfactory receptor, family 7, subfamily E, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9271514 9272490 - 9376069 9377045 - 9265393 9266369 - 1580863 9119360 26651 Q9UPJ0 ABBA01029979;AC006271;AMYH02035464;NG_002356;X89668 AAD03354 Hs.537315 HSCIT-B-440L2;OR19-7;OR7E65;TPCR11;tpcr110 APPROVED pseudo HGNC:8390 INFERRED 1344049 OR7E20P olfactory receptor, family 7, subfamily E, member 20 pseudogene 10036190 9434 HGNC:8392 1344405 OR7E21P olfactory receptor, family 7, subfamily E, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.1 128180246 128181299 - 129753331 129754384 - 130034488 130035541 - 10036190 9432 ABBA01059211;AC083906;AMYH02007654;NG_004123 OR4DG;OR7E127P;OR7E141P;OR7E142P;OR7E49P;OST035 APPROVED pseudo HGNC:8393 INFERRED 1342582 OR7E25P olfactory receptor, family 7, subfamily E, member 25 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9210376 9211356 + 9314928 9315908 + 9204252 9205232 + 26647 ABBA01029983;AC011464;AMYH02035461;NG_004132 CIT-B-440L2;OR19-12;OR19-C APPROVED pseudo HGNC:8397 INFERRED 1348348 OR7E23P olfactory receptor, family 7, subfamily E, member 23 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 19177002 19177984 + 33993372 33994354 + 32621062 32622044 + 10830953;12213199 391279 ABBA01057320;AF399396;AMYH02037725;AP000275;NG_004368 1804490;1804760;2021538;2021540;2021542;2021544;2021546;2021548;2021550;2021552;2021554;2021556;2100064;2100066 ECD03170;ECD03312;REN81759;REN81761;REN81762;REN81763;REN81764;REN81766;REN81767;REN81770;REN81771;REN81772;stSG606539;stSG606540 OR21-1;OR21-3;OR7E92P APPROVED pseudo HGNC:8395 INFERRED 1351518 OR7E26P olfactory receptor, family 7, subfamily E, member 26 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 p13 14970074 14970728 - 15041198 15041851 - 14999199 14999852 - 12213199;9500546 401637 ABBA01034601;AF399375;AF399384;AL157391;AMYH02022205;NG_002315;U86217;U86218;U86219;U86290;U86291;U86292;U86293;U86295;U86301 OR1-51;OR1-72;OR1-73;OR7E67P;OR7E68P;OR7E69P;OR7E70P;OR7E71P;OR7E72P;OR7E73P;OR7E74P;OR7E75P;OR912-108;OR912-109;OR912-110;OR912-46;OR912-95;hg523;hg674 APPROVED pseudo HGNC:8398 INFERRED 1353861 OR7E28P olfactory receptor, family 7, subfamily E, member 28 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q24.1 153335642 153336588 + 159718858 159719804 + 158862346 158863292 + 9847074 26645 ABBA01004854;AC064843;AMYH02005061;NG_004131 OR7E107P;OR7E133P;OR7E27P;OST128;hg616 APPROVED pseudo HGNC:8400 INFERRED 1351971 OR7E24 olfactory receptor, family 7, subfamily E, member 24 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9257168 9258187 + 9361720 9362739 + 9251044 9252063 + 6480464;8554872 11385110;12213199;12477932;14983052;15057824;9268701 26648 O43789;Q6IFN5 ABBA01029980;AC006271;AF399400;AMYH02035464;BC146920;BK004227;NM_001079935;Y10529 AAD03353;AAI46921;AAI56696;CAA71557;DAA04625;NP_001073404;Q6IFN5 Hs.129832 HSHT2;OR19-8;OR7E24P;OR7E24Q olfactory receptor 7E24;olfactory receptor OR19-14 APPROVED protein-coding HGNC:8396 PROVISIONAL 1352158 OR7E29P olfactory receptor, family 7, subfamily E, member 29 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.2 123841761 123842705 + 125430979 125431923 + 125712135 125713079 + 12213199 26644 ABBA01016407;AF186996;AF399389;AMYH02007580;NG_004130 OR7E30P;OST032;OST339 APPROVED pseudo HGNC:8401 INFERRED 1347286 OR7E2P olfactory receptor, family 7, subfamily E, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q14.2 83879430 83880266 - 86567973 86568996 - 86856931 86857954 - 12213199;9787077 8587 ABBA01017320;AF065857;AF399424;AMYH02025237;AP000654;NR_045004 Hs.741959 OR11-6;OR7E143P;OR7E51P;OR7E52P;OR7F2P;OST245;hg94 APPROVED pseudo ENSG00000255203 HGNC:8402 VALIDATED 1349154 OR7E31P olfactory receptor, family 7, subfamily E, member 31 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q22.2 63413154 63413810 + 92978508 92979164 + 90216226 90216882 + 12213199;12477932;14983052 375601 ABBA01012838;AF399390;AL389888;AMYH02021193;BK004731;NG_004666 MGC72080;OR7E114P;OR7E32P;OR7E45P;OR9-4;OST016;OST049;OST205 APPROVED pseudo HGNC:8404 INFERRED 1605398 OR7E33P olfactory receptor, family 7, subfamily E, member 33 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q21.32 49387542 49388749 + 68485042 68486249 + 67910910 67912117 + 26640 ABBA01050293;AC055823;AL353580;AMYH02028205;NG_002211 hg688 APPROVED pseudo HGNC:8406 INFERRED 1342630 OR7E36P olfactory receptor, family 7, subfamily E, member 36 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q14 23061903 23062897 - 42005400 42006394 - 41431264 41432258 - 12213199 26637 ABBA01021268;AL731858;AMYH02027922;NG_004129 2021552 REN81770 OR7E119P;OST024 APPROVED pseudo HGNC:8409 INFERRED 1347274 OR7E38P olfactory receptor, family 7, subfamily E, member 38 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q21.3 92289350 92290335 - 97595404 97596389 - 97966092 97967077 - 12213199 389537 ABBA01045740;AC004967;AF399392;AMYH02016319;CH236956;NG_002209 OR7E76;OST127 APPROVED pseudo HGNC:8411 INFERRED 1351584 OR7E37P olfactory receptor, family 7, subfamily E, member 37 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2011] 13 13 42016700 42017902 + 41442564 41443766 + 6480464 12213199;8889549 100506759 AA235800;ABBA01021268;AI081342;AL354833;AL731858;AMYH02027922;NR_002163 Hs.507861;Hs.507862;Hs.591218 FLJ21779;OR7E48P;OST193;hg533 APPROVED pseudo HGNC:8410 PROVISIONAL 1606324 OR7E22P olfactory receptor, family 7, subfamily E, member 22 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 p13 75343277 75344302 - 75405636 75406661 - 75356485 75357510 - 10036190;9817916 9431 ABBA01030984;AC131233;AMYH02007085;NG_004122 OR3.6;OR6DG APPROVED pseudo HGNC:8394 INFERRED 1349306 OR7E39P olfactory receptor, family 7, subfamily E, member 39 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 6844331 6845302 - 6874454 6875425 - 6834823 6835794 - 12213199;9847074 253933 ABBA01056511;AC079882;AF399377;AMYH02015186;NG_004294 OR7E138P;hg611 APPROVED pseudo HGNC:8412 INFERRED 1348285 OR7E41P olfactory receptor, family 7, subfamily E, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.2 15136452 15137094 - 15009332 15009974 - 14987786 14988428 - 12213199;9500546;9787077 8583 ABBA01061097;AC090835;AF065867;AF399425;AMYH02024361;NG_002158;U86286 OR11-20;OR7E50P;OR7E95P;OR7F6P;OR8-126;hg84 APPROVED pseudo HGNC:8415 INFERRED 1347082 OR7E43P olfactory receptor, family 7, subfamily E, member 43 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 4073772 4074424 - 4176126 4176778 - 4174399 4175051 - 9500546 26475 ABBA01008244;AC011744;AMYH02008640;NG_002191;U86267 OR4-116;OR7E124P;OST712 APPROVED pseudo HGNC:8417 INFERRED 1352665 OR7E46P olfactory receptor, family 7, subfamily E, member 46 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 71115537 71116483 + 71264852 71265796 + 71037722 71038666 + 9847074 402077 ABBA01075546;AC007881;AMYH02004048;NG_004394 OST379 MCEEP APPROVED pseudo HGNC:8420 INFERRED 1346572 OR7E47P olfactory receptor, family 7, subfamily E, member 47 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 51303562 51304507 + 52501102 52502047 + 52107318 52108263 + 6480464 12477932;8647456 26628 AA229829;ABBA01031626;AC078864;AMYH02026499;BC042060;BX100829;DB348459;HG504768;NR_120437;NR_120438;NR_120439;NR_120440;X87825 Hs.524431 OR7E141 APPROVED pseudo HGNC:8421 VALIDATED 1343431 OR7E53P olfactory receptor, family 7, subfamily E, member 53 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.2 123864118 123864773 + 125453336 125453991 + 125734493 125735148 + 9500546 26478 ABBA01016407;AF186996;AMYH02007580;NG_002316;U86261;U86262 OR3-142;OR3-143;OR7E132P;OR7E78;OR7E78P APPROVED pseudo HGNC:8428 INFERRED 1343489 OR7E55P olfactory receptor, family 7, subfamily E, member 55 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 p12.3 75357208 75358159 - 75419563 75420513 - 75370412 75371362 - 391548 ABBA01030984;AC139453;AMYH02007085;NG_004370 OR2DG;OR3.2;OR7E56P;OR7E57P;OST007;OST013 APPROVED pseudo HGNC:8430 INFERRED 1347133 OR7E59P olfactory receptor, family 7, subfamily E, member 59 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 6889131 6890089 - 6919253 6920211 - 6879622 6880580 - 12213199;9847074 402249 ABBA01056512;AC079804;AF399374;AMYH02015186;NG_004398 OR7E137P;OR7E59;OST119 APPROVED pseudo HGNC:8434 INFERRED 1353999 OR7E4P olfactory receptor, family 7, subfamily E, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13 68630539 68631461 + 71331146 71332068 + 71620100 71621022 + 12213199;9787077 8585 AB065524;ABBA01017551;AF065864;AF399418;AMYH02025068;AP000867;NG_002162 OR11-11a;OR7E9P;OR7F4P;OST289 APPROVED pseudo HGNC:8424 INFERRED 1342787 OR7E5P olfactory receptor, family 7, subfamily E, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This family member is believed to be a pseudogene. [provided by RefSeq, Jun 2009] 11 11 11 q12.1 53086349 53094051 - 55746179 55753881 - 55978703 55986405 - 1580863;6480464 12213199;14702039;14983052;9787077 219445 AB065945;ABBA01021460;AC068339;AF065865;AF399402;AK055955;AMYH02024830;AP003033;BK004660;CH471076;KF459745;NR_027688 BAC06158;EAW73693 Hs.350816 5037552 D8S2279 FLJ31393;OR11-12;OR11-156;OR7F5P APPROVED pseudo HGNC:8435 VALIDATED 1353519 OR7E62P olfactory receptor, family 7, subfamily E, member 62 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 71133216 71133862 + 71282522 71283168 + 71055392 71056038 + 9500546 26479 ABBA01075547;AC007881;AMYH02004048;NG_002317;U86257;U86258;U86259;U86260 OR2-4;OR2-52;OR2-53;OR2-75;OR7E62;OR7E63;OR7E63P;OR7E64;OR7E64P;OR7E82P APPROVED pseudo HGNC:8438 INFERRED 1352476 OR7E66P olfactory receptor, family 7, subfamily E, member 66 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 p13 75335036 75335557 - 75397394 75397915 - 75348243 75348764 - 10036190;12213199;9817916 26614 ABBA01030984;AC117481;AC131233;AF399382;AMYH02007085;NG_004127 OR3.3;OR3DG;OR7E20P;OR7E6P;hg630 APPROVED pseudo HGNC:8442 INFERRED 1350690 OR7E7P olfactory receptor, family 7, subfamily E, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q21.3 92270243 92271249 - 97576295 97577301 - 97946983 97947989 - 392752 ABBA01045741;AC004967;AMYH02016319;NG_002208 APPROVED pseudo HGNC:8457 INFERRED 1342786 OR7E84P olfactory receptor, family 7, subfamily E, member 84 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 6805 7355 - 9470652 9471875 + 9468387 9469983 + 9847074 390288 AC097493;AC116655;NG_002276 OR7E54P;OST185 APPROVED pseudo ENSG00000215323 HGNC:14690 INFERRED 1350161 OR7E83P olfactory receptor, family 7, subfamily E, member 83 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 9994836 9996000 + 9514472 9515636 + 9512823 9513987 + 9847074 391630 ABBA01032501;AC097493;AC116655;AMYH02008739;NG_002251 OR7E134P APPROVED pseudo HGNC:14688 INFERRED 1353761 OR7E85P olfactory receptor, family 7, subfamily E, member 85 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 9965615 9966842 + 9485250 9486477 + 9483603 9484830 + 442105 Q8NHB9 AA704815;AB065455;ABBA01032500;AC097493;AC116655;AMYH02008739;AW009208;NG_002249 BAC05716 OR7E118P;OR7E88P APPROVED pseudo HGNC:14692 INFERRED 1347102 OR7E89P olfactory receptor, family 7, subfamily E, member 89 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q24.1 153326800 153327968 + 159710016 159711184 + 158853504 158854672 + 79540 ABBA01004854;AC064843;AC069348;AMYH02005061;NG_002272 APPROVED pseudo HGNC:14730 INFERRED 1345003 OR7E87P olfactory receptor, family 7, subfamily E, member 87 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13 68603965 68604612 + 71304704 71305351 + 71593658 71594305 + 6480464 14983052;9787077 8586 Q8NH46 AB065550;ABBA01017551;AF065862;AMYH02025068;AP000867;BK004803;NG_002164 BAC05793 OR11-261;OR11-9;OR7E3P;OR7F3P APPROVED pseudo HGNC:14709 INFERRED 1343516 OR7E8P olfactory receptor, family 7, subfamily E, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 11506523 11507548 - 12541649 12542674 - 12684140 12685165 - 12213199 346708 Q8NH98 AB065485;AB065553;ABBA01021634;AC000385;AC068587;AF399408;AMYH02017469;NG_002207 BAC05738;BAC05794 OR11-11a similar to seven transmembrane helix receptor APPROVED pseudo HGNC:8458 INFERRED 1344790 OR7E90P olfactory receptor, family 7, subfamily E, member 90 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q24.1 153347890 153349063 + 159731105 159732278 + 158874593 158875766 + 79537 ABBA01004854;AC064843;AC069348;AMYH02005061;NG_002271 OR7E123P;OST705 APPROVED pseudo HGNC:14733 INFERRED 1354227 OR7E93P olfactory receptor, family 7, subfamily E, member 93 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.2 123854057 123855227 + 125443277 125444447 + 125724434 125725604 + 79282 ABBA01016407;AC069047;AF186996;AMYH02007580;NG_002225 OR7E131P APPROVED pseudo HGNC:14780 INFERRED 1604141 OR7E96P olfactory receptor, family 7, subfamily E, member 96 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 p23.1 7897501 7898469 + 8039979 8040947 + 401450 AC105233;NG_004629 APPROVED pseudo HGNC:14815 INFERRED 1350325 OR7E94P olfactory receptor, family 7, subfamily E, member 94 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 q21.21 77804596 77804925 - 80508908 80509237 - 79587754 79588083 - 79273 ABBA01063395;AC013662;AC092542;AMYH02009552;NG_002221 APPROVED pseudo HGNC:14789 INFERRED 1345032 OR7E35P olfactory receptor, family 7, subfamily E, member 35 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 10239369 10240281 + 9756517 9757430 + 9754893 9755806 + 1580863 9847074 391632 Q9P1R1 ABBA01032505;AC098976;AF073924;AMYH02008742;NG_004371 AAF72204 Hs.404129 OR7E120;OST018 APPROVED pseudo HGNC:8408 INFERRED 1352513 OR7E97P olfactory receptor, family 7, subfamily E, member 97 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.2 123876756 123877726 + 125465972 125466942 + 125747129 125748099 + 79492 ABBA01016407;AF061779;AF186996;AMYH02007580;NG_002256 APPROVED pseudo HGNC:14834 INFERRED 1351989 OR7E99P olfactory receptor, family 7, subfamily E, member 99 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 4055852 4056876 - 4158206 4159230 - 4156479 4157503 - 9847074 81419 ABBA01008244;AC011744;AMYH02008640;NG_004262 APPROVED pseudo HGNC:15059 INFERRED 1345965 OR7G15P olfactory receptor, family 7, subfamily G, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9128194 9128600 - 9232759 9233162 - 9122083 9122486 - 403300 ABBA01029985;AC011464;AMYH02035459;NG_004437 APPROVED pseudo HGNC:31313 INFERRED 1351852 OR7E86P olfactory receptor, family 7, subfamily E, member 86 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 p16.1 9460848 9462070 + 9459122 9460344 + 9847074 442104 Q8NH97 AB065942;AC097493;AC116655;NG_002248 BAC06156 APPROVED pseudo HGNC:14694 INFERRED 1350658 OR7G1 olfactory receptor, family 7, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9120709 9121874 - 9225504 9226439 - 9114828 9115763 - 1580863;6480464 12213199;14983052 125962 Q8NGA0 AB065926;ABBA01029985;AC011464;AF399538;AMYH02035459;BK004267;NG_034045;NM_001005192 AAK95023;BAC06141;DAA04665;NP_001005192;Q8NGA0 Hs.553576 OR19-15;OR19-8;OR7G1P OTTHUMP00000237797;olfactory receptor 19-15;olfactory receptor 7G1;olfactory receptor OR19-8 APPROVED protein-coding ENSG00000161807 HGNC:8465 15074 REVIEWED 1604686 OR7H1P olfactory receptor, family 7, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9284555 9285491 - 9389109 9390045 - 9278433 9279369 - 12213199 390886 ABBA01029979;AC006271;AMYH02035464;NG_002205 OR7H1 APPROVED pseudo HGNC:8468 INFERRED 1348157 OR7G2 olfactory receptor, family 7, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9108385 9109422 - 9212945 9213982 - 9102269 9103306 - 6480464;8554872 12213199;14983052 390882 Q8NG99 AB065927;ABBA01029985;AC011464;AF399539;AMYH02035459;BK004268;CH471106;CS248316;NM_001005193 AAK95024;BAC06142;CAJ56681;DAA04666;EAW84007;NP_001005193;Q8NG99 Hs.553774 OR19-6;OST260 OR19-13;olfactory receptor 19-13;olfactory receptor 7G2;olfactory receptor OR19-6 APPROVED protein-coding ENSG00000170923 HGNC:8466 15075 PROVISIONAL 1345338 OR7G3 olfactory receptor, family 7, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9132131 9133069 - 9236688 9237626 - 9126012 9126950 - 1580863;6480464;8554872 12213199;14983052;22044667;23314748 390883 Q8NG95 AB065932;ABBA01029985;AC011464;AF399540;AMYH02035459;BK004266;CS248312;NM_001001958 AAK95025;BAC06147;CAJ56679;DAA04664;NP_001001958;Q8NG95 Hs.553775 OST085 OTTHUMP00000230045;olfactory receptor 7G3;olfactory receptor OR19-9 APPROVED protein-coding ENSG00000170920 HGNC:8467 15076 PROVISIONAL 1345471 OR7L1P olfactory receptor, family 7, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 131116536 131117618 + 130730096 130731178 + 131596122 131597204 + 79499 ABBA01042141;AL109853;AL365256;AMYH02040495;NG_002258 APPROVED pseudo HGNC:14827 INFERRED 1353731 OR7M1P olfactory receptor, family 7, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128225879 128226428 - 135294726 135295275 + 133481222 133481771 + 81352 ABBA01006221;AC245077;AL161645;NG_004250 APPROVED pseudo HGNC:15128 INFERRED 1350816 OR8A3P olfactory receptor, family 8, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q 121561686 121562064 + 124401503 124401881 + 124531607 124531985 + 403302 ABBA01031256;AMYH02025721;AP000916;NG_004439 APPROVED pseudo HGNC:31315 INFERRED 1353251 OR8A2P olfactory receptor, family 8, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121490641 121491603 + 124330461 124331423 + 124460565 124461527 + 390273 ABBA01031258;AMYH02025720;AP000916;NG_004341 APPROVED pseudo HGNC:15306 INFERRED 1349349 OR8A1 olfactory receptor, family 8, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121600142 121601122 + 124439965 124440945 + 124570069 124571049 + 6480464 12213199;12477932;14983052 390275 Q8NGG7 AB065833;ABBA01031256;AF399512;AMYH02025721;AP000916;AY726592;BC137194;BC137197;BK004495;CH471065;NM_001005194 AAI37195;AAI37198;AAK94997;BAC06052;DAA04893;EAW67586;EAW67587;NP_001005194;Q8NGG7 Hs.632104 2219396 OR8A1__5764 OR11-318;OST025 OTTHUMP00000231521;olfactory receptor 8A1;olfactory receptor OR11-318 APPROVED protein-coding ENSG00000196119 HGNC:8469 15077 PROVISIONAL 1342881 OR8B10P olfactory receptor, family 8, subfamily B, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121546385 121547317 - 124386206 124387138 - 124516310 124517242 - 390274 ABBA01031256;AMYH02025721;AP000916;NG_004342 APPROVED pseudo HGNC:14751 INFERRED 1348532 OR7K1P olfactory receptor, family 7, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q12 5691435 5692442 + 25826971 25827974 + 25357765 25358768 + 81114 ABBA01061351;AL132827;AMYH02028884;NG_004167 APPROVED pseudo HGNC:15366 INFERRED 1349931 OR7H2P olfactory receptor, family 7, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q21.1 97099564 97100461 - 101151587 101152484 - 101815883 101816780 - 6480464 403301 ABBA01069155;AC113416;AMYH02011866;NG_004438 APPROVED pseudo HGNC:31314 INFERRED 1605114 OR8B1P olfactory receptor, family 8, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121395331 121396303 - 124235315 124236287 - 124365419 124366391 - 6480464 12213199;9787077 8582 AB065540;ABBA01031258;AMYH02025720;AP001804;NG_002156 OR11-561;OR8B11P APPROVED pseudo HGNC:8470 INFERRED 1352609 OR7E91P olfactory receptor, family 7, subfamily E, member 91 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 71101893 71107750 + 71251205 71257061 + 71024075 71029931 + 12477932;9847074 79315 ABBA01075546;AC007040;AMYH02004048;BC014374;BC030991;CH471053;NR_002185 EAW99781;EAW99782 Hs.327033 APPROVED pseudo ENSG00000205847 HGNC:14747 PROVISIONAL 1354454 OR8B3 olfactory receptor, family 8, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121426310 121427251 - 124266306 124267247 - 124396410 124397351 - 1580863;6480464;8554872 14983052 390271 Q8NGG8 AB065827;AB065830;ABBA01031258;AC002556;AMYH02025720;AP001804;BK004204;CH471065;NM_001005467 BAC06046;BAC06049;DAA04602;EAW67581;NP_001005467;Q8NGG8 Hs.690456 OR11-311 OTTHUMP00000231630;olfactory receptor 8B3;olfactory receptor OR11-311 APPROVED protein-coding ENSG00000196661 HGNC:8472 15079 PROVISIONAL 1350735 OR8B2 olfactory receptor, family 8, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121412320 121413261 - 124252298 124276648 - 124382402 124406752 - 1580863;6480464;8554872 12213199;12477932;14983052;22939629 26595 Q8NGG9;Q96RD0 AB065826;AB065829;ABBA01031258;AC002556;AF399508;AMYH02025720;AP001804;BC018065;BK004203;BK004500;CH471065;CS248236;NM_001005468;XM_005271500 AAK94993;BAC06045;BAC06048;CAJ56643;DAA04601;DAA04898;EAW67580;NP_001005468;Q96RD0;XP_005271557 Hs.450608;Hs.576944 2109609 OR8B2_9498 OR11-309;OR11-310 OTTHUMP00000231629;olfactory receptor 8B2;olfactory receptor OR11-309;olfactory receptor OR11-310 APPROVED protein-coding ENSG00000204293 HGNC:8471 15078 PROVISIONAL 1352095 OR8B5P olfactory receptor, family 8, subfamily B, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q25 121387503 121388305 - 124227505 124228307 - 124357609 124358411 - 26592 ABBA01031258;AC002556;AMYH02025720;AP001804;NG_002204 APPROVED pseudo HGNC:8474 INFERRED 1342821 OR8B4 olfactory receptor, family 8, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121453838 121454767 - 124293838 124294767 - 124423942 124424871 - 1580863;6480464;8554872 12213199;12477932;14983052 283162 Q96RC9 AB065831;ABBA01031258;AC002556;AF399509;AMYH02025720;AP000916;AP001804;BC136865;BC136866;BK004205;CH471065;CS248238;NM_001005196 AAI36866;AAI36867;AAK94994;BAC06050;CAJ56644;DAA04603;EAW67582;NP_001005196;Q96RC9 Hs.553671 OR11-315;OR8B4P OTTHUMP00000231518;olfactory receptor 8B4;olfactory receptor OR11-315;olfactory receptor, family 8, subfamily B, member 4 pseudogene APPROVED protein-coding ENSG00000198657;ENSG00000280090 HGNC:8473 17786 PROVISIONAL 1345960 OR8B6P olfactory receptor, family 8, subfamily B, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q25 121368707 121369607 - 124208708 124209608 - 124338812 124339712 - 26591 ABBA01031258;AC002556;AMYH02025720;AP001804;NG_002203 APPROVED pseudo HGNC:8475 INFERRED 1348989 OR8B7P olfactory receptor, family 8, subfamily B, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q25 121354685 121355303 - 124194685 124195303 - 124324789 124325407 - 26590 ABBA01031259;AC002556;AMYH02025720;AP001804;NG_002202 OR8B13P APPROVED pseudo HGNC:8476 INFERRED 1345147 OR8B9P olfactory receptor, family 8, subfamily B, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121511154 121511638 - 124350974 124351459 - 124481078 124481563 - 10706615 79316 ABBA01031257;AF179764;AF179765;AMYH02025721;AP000916;NG_002322 APPROVED pseudo HGNC:14746 INFERRED 1352903 OR8C1P olfactory receptor, family 8, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121406859 121407533 - 124246837 124247511 - 124376941 124377615 - 9500546;9787077 8580 ABBA01031258;AF065872;AMYH02025720;AP001804;NG_002154;U86289 OR11-175;OR8C3P;OR8C4P;OR912-106;OR912-45 APPROVED pseudo HGNC:8478 INFERRED 1350153 OR8D1 olfactory receptor, family 8, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121339734 121340660 - 124179736 124180662 - 124309840 124310766 - 1580863;6480464;8554872 11705801;12477932;14983052 283159 Q8WZ84 AB065828;ABBA01031260;AC002556;AF238489;AMYH02025719;AP001804;BC136950;BC136954;BK004501;CH471065;CS248232;NM_001002917 AAI36951;AAI36955;AAL32998;BAC06047;CAJ56641;DAA04899;EAW67578;NP_001002917;Q8WZ84 Hs.504211 JCG9;OR8D3;OST004;PDJ9J14 OTTHUMP00000231627;olfactory receptor 8D1;olfactory receptor 8D3;olfactory receptor OR11-301;olfactory receptor, family 8, subfamily D, member 3;olfactory receptor-like protein JCG9;olfactory-like receptor JCG9 APPROVED protein-coding ENSG00000196341 HGNC:8481 17787 PROVISIONAL 1345538 OR8F1P olfactory receptor, family 8, subfamily F, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121237047 121238009 + 124077891 124078853 + 124207184 124208146 + 390269 ABBA01031262;AMYH02025719;AP000818;NG_004340 APPROVED pseudo HGNC:14691 INFERRED 1350337 OR8B12 olfactory receptor, family 8, subfamily B, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121572800 121573732 - 124412618 124413550 - 124542722 124543654 - 1580863;6480464;8554872 12213199;12477932;14983052 219858 Q8NGG6 AB065834;ABBA01031256;AF399511;AMYH02025721;AP000916;BC136863;BC136864;BK004494;CH471065;CS248182;NM_001005195 AAI36864;AAI36865;AAK94996;BAC06053;CAJ56618;DAA04892;EAW67585;NP_001005195;Q8NGG6 Hs.553634 2219398 OR8B12__5765 OR11-317 OTTHUMP00000231520;olfactory receptor 8B12;olfactory receptor OR11-317 APPROVED protein-coding ENSG00000170953 HGNC:15307 17785 PROVISIONAL 1354280 OR8D2 olfactory receptor, family 8, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121349159 121350094 - 124189158 124190093 - 124319262 124320197 - 1580863;6480464;8554872 11705801;12477932;14983052;15174051 283160 Q9GZM6 ABBA01031259;AC002556;AF162668;AF162669;AMYH02025720;AP001804;BC137043;BC137045;BK004202;CH471065;NM_001002918 AAG43386;AAG43387;AAI37044;AAI37046;DAA04600;EAW67579;NP_001002918;Q9GZM6 Hs.504212 JCG2 OTTHUMP00000231628;olfactory receptor 8D2;olfactory receptor OR11-303;olfactory receptor-like protein JCG2 APPROVED protein-coding ENSG00000197263;ENSG00000279116 HGNC:8482 15081 PROVISIONAL 1346948 OR8G1 olfactory receptor, family 8, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This family member represents a polymorphic pseudogene, whereby some individuals have a functional allele that encodes a full-length protein, while others have a non-functional allele due to the presence of an early stop codon and a 3' end deletion. [provided by RefSeq, Feb 2014] 11 11 11 q24.2 121279538 121280473 + 124120423 124121287 + 124249676 124250611 + 633349;6480464;8554872 9119360 12213199;14983052;18674749 26494 Q15617;V9GY26 AB065946;ABBA01031262;AF399507;AMYH02025719;AP002965;BK004423;CH471065;FO680687;NM_001002905;NR_045681;X89672 AAI40353;AAI46495;AAK94992;BAC06159;CAA61819;DAA04821;EAW67576;NP_001002905;Q15617 Hs.448172 2110627 OR8G5__7032 HSTPCR25;OR8G1P;TPCR25 olfactory receptor 8G1;olfactory receptor OR11-281;olfactory receptor TPCR25;olfactory receptor, family 8, subfamily G, member 1 pseudogene APPROVED protein-coding ENSG00000197849 HGNC:8484 15082 VALIDATED 1353161 OR8G2 olfactory receptor, family 8, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121254560 121255474 + 124095398 124096312 + 124224693 124225607 + 633349;6480464 9119360 12477932;14983052 26492 Q15614;Q6IF36;Q8N0Y1 AB065943;AB065947;AB065948;ABBA01031262;AMYH02025719;AP002965;BC136638;BC136639;BK004424;BK004426;CH471065;FO680687;NM_001007249;NM_001291438;X89669 AAI36639;AAI36640;BAC06157;BAC06160;BAC06161;CAA61816;DAA04822;DAA04824;EAW67575;NP_001007250;NP_001278367;Q15614 Hs.381319 5493533 UniSTS:487064 HSTPCR120;OR8G2P;OR8G4;ORL206;ORL486;TPCR120 olfactory receptor 8G2;olfactory receptor 8G4;olfactory receptor OR11-292;olfactory receptor OR11-297;olfactory receptor TPCR120;olfactory receptor, family 8, subfamily G, member 2 pseudogene;olfactory receptor, family 8, subfamily G, member 4;seven transmembrane helix receptor APPROVED protein-coding HGNC:8485 17789 VALIDATED 1342721 OR8G3P olfactory receptor, family 8, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121245089 121245653 + 124085927 124086491 + 124215220 124215784 + 387815 ABBA01031262;AMYH02025719;AP002965;FO680687;NG_004312 APPROVED pseudo HGNC:14698 INFERRED 1352593 OR8G5 olfactory receptor, family 8, subfamily G, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121294726 121295766 + 124134723 124135763 + 124264827 124265867 + 1580863;6480464 12477932;14983052 219865 Q8NG78 AB065958;ABBA01031262;AMYH02025719;AP002965;BC136820;BC136822;BK004516;CH471065;NM_001005198 AAI36821;AAI36823;BAC06171;DAA04914;EAW67577;NP_001005198;Q8NG78 Hs.722725 2110627 OR8G5__7032 OR11-298;OR8G5P;OR8G6 olfactory receptor 8G5;olfactory receptor 8G6;olfactory receptor OR11-298;olfactory receptor, family 8, subfamily G, member 5 pseudogene;olfactory receptor, family 8, subfamily G, member 6 APPROVED protein-coding ENSG00000255298 HGNC:19622 17790 PROVISIONAL 1348854 OR8H1 olfactory receptor, family 8, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53397687 53398622 - 56057603 56058538 - 56290127 56291062 - 1580863;6480464;8554872 12477932;14983052 219469 Q8NGG4 AB065836;ABBA01021463;AC022882;AMYH02024832;BC136909;BC136910;BK004337;CH471076;CS248134;NM_001005199 AAI36910;AAI36911;BAC06055;CAJ56594;DAA04735;EAW73707;NP_001005199;Q8NGG4 Hs.553628 2107473 OR8H1__7033 OR11-180 OTTHUMP00000222497;olfactory receptor 8H1;olfactory receptor OR11-180 APPROVED protein-coding ENSG00000181693 HGNC:14824 17791 PROVISIONAL 1346035 OR8H2 olfactory receptor, family 8, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53212689 53213627 + 55872519 55873457 + 56105043 56105981 + 1580863;6480464;8554872 14983052;23824909 390151 Q8N162 AB065657;AB065845;ABBA01021461;AC068339;AMYH02024831;BK004341;CH471076;CS248362;NM_001005200 BAC05883;BAC06063;CAJ56701;DAA04739;EAW73698;NP_001005200;Q8N162 Hs.553744 2219402 OR8H2__5773 OR11-171 OTTHUMP00000234215;olfactory receptor 8H2;olfactory receptor OR11-171 APPROVED protein-coding ENSG00000181767 HGNC:15308 15083 PROVISIONAL 1350267 OR8I1P olfactory receptor, family 8, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53404099 53405029 - 56064016 56064946 - 56296540 56297470 - 79498 ABBA01021463;AC022882;AMYH02024832;NG_004147 APPROVED pseudo HGNC:14828 INFERRED 1348145 OR8H3 olfactory receptor, family 8, subfamily H, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53230004 53230942 + 55889849 55890787 + 56122373 56123311 + 1580863;6480464;8554872 14983052 390152 Q8N146 AB065658;AB065840;ABBA01021461;AC068339;AMYH02024831;BK004345;CH471076;CS248364;NM_001005201 BAC05884;BAC06059;CAJ56702;DAA04743;EAW73699;NP_001005201;Q8N146 Hs.553745 OR11-172 OTTHUMP00000234216;olfactory receptor 8H3;olfactory receptor OR11-172 APPROVED protein-coding ENSG00000181761 HGNC:15309 17792 PROVISIONAL 1319573 OR8D4 olfactory receptor, family 8, subfamily D, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120936319 120937263 + 123777139 123778083 + 123906432 123907376 + 1580863;6480464;8554872 12477932;14983052;23824909 338662 Q8NGM9 AB065761;ABBA01031265;AC019108;AMYH02025719;AP002407;BC137180;BC137206;BK004313;CH471065;CS248090;NM_001005197 AAI37181;AAI37207;BAC05981;CAJ56572;DAA04711;EAW67560;NP_001005197;Q8NGM9 Hs.449688 2110625 OR8D4__5769 OR11-275 OTTHUMP00000231613;olfactory receptor 8D4;olfactory receptor OR11-275 APPROVED protein-coding HGNC:14840 17788 PROVISIONAL 1352416 OR8I2 olfactory receptor, family 8, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53200954 53201886 + 55860784 55861716 + 56093308 56094240 + 1580863;6480464;8554872 12213199;12477932;14983052;20379614;22359512 120586 Q8N0Y5 AB065656;AB065844;ABBA01021461;AC068339;AF399513;AMYH02024831;BC137007;BC137008;BK004342;CH471076;CS248360;NM_001003750 AAI37008;AAI37009;AAK94998;BAC05882;BAC06062;CAJ56700;DAA04740;EAW73697;NP_001003750;Q8N0Y5 Hs.554524 OR11-170 OTTHUMP00000234214;olfactory receptor 8I2;olfactory receptor OR11-170 APPROVED protein-coding ENSG00000172154 HGNC:15310 15084 PROVISIONAL 1353612 OR8I4P olfactory receptor, family 8, subfamily I, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53204889 53205029 - 55864719 55864859 - 56097243 56097383 - 403303 ABBA01021461;AC068339;AMYH02024831;NG_004635 APPROVED pseudo HGNC:31316 INFERRED 1345447 OR8G7P olfactory receptor, family 8, subfamily G, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121268189 121269545 + 124109123 124110319 + 124238422 124239577 + 282786 ABBA01031262;AMYH02025719;AP002965;FO680687;NG_004628 APPROVED pseudo ENSG00000254845 HGNC:19625 INFERRED 1348514 OR8J1 olfactory receptor, family 8, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53467801 53468751 + 56127691 56128764 + 56360215 56361288 + 1580863;6480464;8554872 12213199;12477932;14983052 219477 Q8NGP2 AB065748;ABBA01021463;AC208786;AF399515;AMYH02024832;AP002512;BC137066;BC137067;BK004340;CH471076;CS248136;NM_001005205 AAI37067;AAI37068;AAK95000;BAC05968;CAJ56595;DAA04738;EAW73710;NP_001005205;Q8NGP2 Hs.626841 OR11-183 OTTHUMP00000234248;olfactory receptor 8J1;olfactory receptor OR11-183 APPROVED protein-coding ENSG00000172487 HGNC:14855 17793 VALIDATED 1346153 OR8K2P olfactory receptor, family 8, subfamily K, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53442695 53443621 + 56102619 56103545 + 56335143 56336069 + 79494 ABBA01021463;AC022882;AMYH02024832;NG_004146 APPROVED pseudo HGNC:14832 INFERRED 1346057 OR8J2 olfactory receptor, family 8, subfamily J, member 2 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53318463 53319427 - 55978333 55979297 - 56210857 56211821 - 12730696;16554811;18989455 81169 Q8NGG1 ABBA01021463;AC022882;AMYH02024832;NG_004185 Q8NGG1 OR8J2P APPROVED pseudo HGNC:15311 INFERRED 1342544 OR8J3 olfactory receptor, family 8, subfamily J, member 3 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); olfactory receptor activity (inferred); INVOLVED IN detection of chemical stimulus involved in sensory perception of smell (inferred); G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cadmium dichloride (ortholog); lead diacetate (ortholog) 11 11 11 q12.1 53244400 53245347 - 55904247 55905194 - 56136771 56137718 - 1580863;6480464;8554872 12213199;14983052 81168 Q8NGG0 AB065841;ABBA01021461;AF399516;AMYH02024831;AP003034;BK004346;CH471076;NM_001004064 AAK95001;BAC06060;DAA04744;EAW73701;NP_001004064;Q8NGG0 Hs.554523 2219404 OR8J3__5776 OR11-173 OTTHUMP00000234217;olfactory receptor 8J3;olfactory receptor OR11-173 protein-coding ENSG00000167822 HGNC:15312 15085 PROVISIONAL 1347124 OR8K1 olfactory receptor, family 8, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53453593 53454552 + 56113515 56114474 + 56346039 56346998 + 1580863 12213199;12477932;14983052 390157 Q8NGG5 AB065835;ABBA01021463;AC022882;AF399517;AMYH02024832;BC146844;BK004339;CH471076;CS248130;NM_001002907 AAI46845;AAK95002;BAC06054;CAJ56592;DAA04737;EAW73709;NP_001002907;Q8NGG5 Hs.553748 2107475 OR8K1__7035 OR11-182;OR8N1P OTTHUMP00000234247;olfactory receptor 8K1;olfactory receptor OR11-182;olfactory receptor, family 8, subfamily N, member 1 pseudogene APPROVED protein-coding ENSG00000150261 HGNC:14831 15086 PROVISIONAL 1342730 OR8K3 olfactory receptor, family 8, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53425861 53426799 + 56085783 56086721 + 56318307 56319245 + 1580863;6480464 14983052 219473 Q8NH51 AB065541;ABBA01021463;AC022882;AMYH02024832;BK004338;CH471076;CS248132;NM_001005202 BAC05786;CAJ56593;DAA04736;EAW73708;NP_001005202;Q8NH51 Hs.553629 OR11-181 OTTHUMP00000234246;olfactory receptor 8K3;olfactory receptor OR11-181 APPROVED protein-coding ENSG00000181689;ENSG00000280314 HGNC:15313 17794 PROVISIONAL 1342981 OR8K4P olfactory receptor, family 8, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53250144 53251015 - 55909991 55910862 - 56142515 56143386 - 81166 ABBA01021461;AMYH02024831;AP003034;NG_004184 APPROVED pseudo HGNC:15314 INFERRED 1348371 OR8L1P olfactory receptor, family 8, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53496795 53497749 + 56149112 56150066 + 56381636 56382590 + 14983052 81164 ABBA01021463;AC208786;AMYH02024832;AP002512;BK004720;NG_004183 OR11-115 APPROVED pseudo HGNC:15316 INFERRED 1347370 OR8B8 olfactory receptor, family 8, subfamily B, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121470034 121470969 - 124310046 124310981 - 124440150 124441085 - 633349;1580863;6480464;8554872 9119360 11705801;12213199;12477932;14983052 26493 Q15620;Q6IEW6 AB065832;ABBA01031258;AF238488;AF399510;AMYH02025720;AP000916;BC130393;BC130419;BK004496;CH471065;NM_012378;X89675 AAI30394;AAI30420;AAK94995;AAL32997;ADR82899;BAC06051;CAA61822;DAA04894;EAW67583;NP_036510;Q15620 Hs.351822 2219400;5493041;5493727 OR8B8__5767;UniSTS:483956;UniSTS:494434 TPCR85 OTTHUMP00000231519;olfactory receptor 8B8;olfactory receptor OR11-316;olfactory receptor TPCR85;olfactory-like receptor JCG8 APPROVED protein-coding ENSG00000197125 HGNC:8477 PROVISIONAL 1351237 OR8K5 olfactory receptor, family 8, subfamily K, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53267023 53267946 - 55926870 55927793 - 56159394 56160317 - 1580863;6480464;8554872 14983052;25015289 219453 Q8NH50 AB065542;ABBA01021462;AMYH02024831;AP003034;BK004347;CH471076;CS248366;CS248600;NM_001004058 BAC05787;CAJ56703;CAJ56816;DAA04745;EAW73702;NP_001004058;Q8NH50 Hs.553626 OR11-174 OTTHUMP00000234218;olfactory receptor 8K5;olfactory receptor OR11-174 APPROVED protein-coding ENSG00000181752 HGNC:15315 17795 VALIDATED 1605614 OR8R1P olfactory receptor, family 8, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 70264960 70265513 + 72960361 72960914 + 73249316 73249869 + 81162 ABBA01017524;AMYH02025084;AP002761;NG_004181 APPROVED pseudo HGNC:15318 INFERRED 1343193 OR8Q1P olfactory receptor, family 8, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121631673 121632329 + 124471499 124472155 + 124601603 124602259 + 81163 ABBA01031255;AMYH02025721;AP000916;NG_004182 APPROVED pseudo HGNC:15317 INFERRED 1351418 OR8S1 olfactory receptor, family 8, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47715420 47717885 + 48919415 48921886 + 48525632 48528103 + 1580863;6480464;8554872 18029348;20677014;24105470 341568 Q8NH09 AB065604;ABBA01031482;AC089987;AMYH02026422;NM_001005203 BAC05832;NP_001005203;Q8NH09 Hs.524373 OTTHUMP00000242627;olfactory receptor 8S1 APPROVED protein-coding ENSG00000197376 HGNC:19628 15087 VALIDATED 1352267 OR8T1P olfactory receptor, family 8, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 47631807 47632721 - 48835815 48836729 - 48442032 48442946 - 282791 ABBA01031481;AC090115;AMYH02026422;NG_004301 APPROVED pseudo HGNC:19630 INFERRED 1349416 OR8S21P olfactory receptor, family 8, subfamily S, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47606923 47607110 - 48810933 48811120 - 48417150 48417337 - 403304 ABBA01031481;AC090115;AMYH02026421;NG_005823 APPROVED pseudo HGNC:31317 INFERRED 1353375 OR8U1 olfactory receptor, family 8, subfamily U, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 q12.1 56143100 56144029 + 56375624 56376553 + 1580863;6480464;8554872 17803354 219417 Q8NH10 AB065603;AMYH02024832;AP002512;NM_001005204 BAC05831;NP_001005204;Q8NH10 Hs.553618 OTTHUMP00000234249;olfactory receptor 8U1 APPROVED protein-coding ENSG00000172199 HGNC:19611 17796 PROVISIONAL 1343242 OR8X1P olfactory receptor, family 8, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121434143 121435011 - 124274129 124274997 - 124404233 124405101 - 403305 ABBA01031258;AMYH02025720;AP001804;NG_004440 APPROVED pseudo HGNC:31318 INFERRED 1601900 OR8U8 olfactory receptor, family 8, subfamily U, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53483178 53484137 + 186374 187333 + 186374 187333 + 8554872 11237011;15496913 504189 P0C7N1 AADD01115766;ABBA01021463;AC208786;AC213240;CH471076;JH159136;NM_001013356 AAI48575;AAI53151;EAW73711;NP_001013374;P0C7N1 olfactory receptor 8U8 APPROVED protein-coding HGNC:27538 18488 VALIDATED 1344141 OR8V1P olfactory receptor, family 8, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q 53295936 53296856 - 55955807 55956727 - 56188331 56189251 - 282776 ABBA01021462;AC022882;AMYH02024832;AP003034;NG_004299 OR11-267 APPROVED pseudo HGNC:19613 INFERRED 1601899 OR8U9 olfactory receptor, family 8, subfamily U, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q1 53490783 53491712 + 193979 194908 + 193979 194908 + 11237011;15496913;17803354;21328370 504190 P0C7N5 AADD01115766;ABBA01021463;AC208786;AC213240;CH471076;GD263286;NM_001013357 EAW73712;NP_001013375;P0C7N5 Hs.553618 olfactory receptor 8U9 APPROVED protein-coding HGNC:29166 18489 PROVISIONAL 1343778 OR9A3P olfactory receptor, family 9, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 136284108 136285067 + 141562659 141563618 + 141862859 141863818 + 12213199;12853948 392106 ABBA01034112;AC073647;AF399476;AMYH02016923;CH236950;NG_004372 OR9A6P APPROVED pseudo HGNC:15094 INFERRED 1348029 OR9A2 olfactory receptor, family 9, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 137560149 137561081 - 142723287 142724219 - 143026200 143027132 - 1580863;6480464;8554872 12477932;12732197;12908129;14983052 135924 A4D2H9;Q8NGT5 AB065696;AB065874;ABBA01034132;AC099652;AC245136;AY284261;BC137048;BC137049;BK004391;CH236959;CH471198;NM_001001658 AAI37049;AAI37050;BAC05919;BAC06092;DAA04789;EAL23779;EAW51890;NP_001001658;Q8NGT5 Hs.553594 2219406 OR9A2__5780 OTTHUMP00000212867;olfactory receptor 9A2;olfactory receptor OR7-2 APPROVED protein-coding ENSG00000179468 HGNC:15093 15088 PROVISIONAL 1352661 OR9A4 olfactory receptor, family 9, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 136340164 136341108 + 141618676 141619620 + 141918876 141919820 + 1580863;6480464;8554872 12477932;12690205;14983052;23568457 130075 Q8NGU2 AB065689;ABBA01034113;AC073647;AMYH02016923;BC136819;BC136821;BK004278;CH236950;CH471070;CS248584;NM_001001656 AAI36820;AAI36822;BAC05912;CAJ56808;DAA04676;EAL24013;EAW83990;NP_001001656;Q8NGU2 Hs.690171 OTTHUMP00000212994;olfactory receptor 9A4;olfactory receptor OR7-1 APPROVED protein-coding ENSG00000258083 HGNC:15095 17797 PROVISIONAL 1346262 OR9G2P olfactory receptor, family 9, subfamily G, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53877232 53878219 - 56518473 56519460 - 56750997 56751984 - 81160 ABBA01021463;AMYH02024835;AP001803;NG_004180 OR9G6 APPROVED pseudo HGNC:15320 INFERRED 1601898 OR9G9 olfactory receptor, family 9, subfamily G, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53826626 53827543 + 18234 19151 + 18234 19151 + 6480464;8554872 11237011;15496913 504191 P0C7N8 AADD01115779;ABBA01021463;AC213223;CH471076;JH159137;NM_001013358 EAW73723;NP_001013376;P0C7N8 2219408 OR9G1__5782 olfactory receptor 9G9 APPROVED protein-coding HGNC:31940 18490 VALIDATED 1344100 OR9G3P olfactory receptor, family 9, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53866410 53867327 + 56507656 56508569 + 56740180 56741093 + 81159 ABBA01021463;AMYH02024835;AP001803;NG_004179 APPROVED pseudo HGNC:15321 INFERRED 1342549 OR9G1 olfactory receptor, family 9, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53815546 53816463 + 56467864 56468781 + 56700388 56701305 + 1580863;6480464;8554872 14983052;17903294 390174 Q6IEV1;Q8NH87 AB065500;ABBA01021463;AC213223;AMYH02024835;AP004245;BK004511;CH471076;NM_001005213 AAI46362;BAC05750;DAA04909;EAW73722;NP_001005213;Q8NH87 Hs.553752 2219408 OR9G1__5782 OR9G5 OTTHUMP00000235230;olfactory receptor 9G1;olfactory receptor 9G5;olfactory receptor OR11-114;olfactory receptor OR11-210;olfactory receptor, family 9, subfamily G, member 5 APPROVED protein-coding ENSG00000174914 HGNC:15319 15089 PROVISIONAL 1349445 OR9G4 olfactory receptor, family 9, subfamily G, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53869062 53870045 - 56510304 56511287 - 56742828 56743811 - 6480464;8554872 12213199;14983052;17903294 283189 Q8NGQ1 AB065738;ABBA01021463;AF399530;AMYH02024835;AP001803;BK004400;CH471076;NM_001005284 AAK95015;BAC05959;DAA04798;EAW73725;NP_001005284;Q8NGQ1 Hs.554521 2219410 OR9G4__5783 OR11-216 OTTHUMP00000234455;olfactory receptor 9G4;olfactory receptor OR11-216 APPROVED protein-coding ENSG00000172457 HGNC:15322 17798 PROVISIONAL 1350629 OR9H1P olfactory receptor, family 9, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221230743 221231666 + 247938213 247939136 + 247774911 247775834 + 12975309 81439 ABBA01031791;AL450999;AMYH02003140;AY358215;NG_004269 Hs.446996 UNQ9373 APPROVED pseudo HGNC:15038 INFERRED 1345505 OR9I1 olfactory receptor, family 9, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55242948 55243892 - 57885972 57886916 - 58118500 58119444 - 1580863;6480464 12213199;14983052 219954 Q8NGQ6 AB065733;ABBA01021486;AF399531;AMYH02024857;AP004247;BK004292;CH471076;CS248104;NM_001005211 AAK95016;BAC05954;CAJ56579;DAA04690;EAW73796;NP_001005211;Q8NGQ6 Hs.632122 OR11-228 OTTHUMP00000235900;olfactory receptor 9I1;olfactory receptor OR11-228 APPROVED protein-coding ENSG00000172377 HGNC:14718 17799 VALIDATED 1347420 OR9I2P olfactory receptor, family 9, subfamily I, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55269295 55269780 + 57912321 57912806 + 58144849 58145334 + 10706615 81156 ABBA01021486;AF179762;AMYH02024857;AP004247;NG_002279 APPROVED pseudo HGNC:15324 INFERRED 1348710 OR9I3P olfactory receptor, family 9, subfamily I, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55233168 55234109 - 57876192 57877133 - 58108720 58109661 - 81155 ABBA01021486;AMYH02024857;AP004247;NG_004178 OST714 APPROVED pseudo HGNC:15325 INFERRED 1353472 OR9K1P olfactory receptor, family 9, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55161171 55162109 + 55509318 55510256 + 55115534 55116472 + 6480464 14983052 121360 AB065863;ABBA01008380;AC027287;AMYH02026544;BK004576;NG_004285 OR12-4 APPROVED pseudo HGNC:15338 INFERRED 1353131 OR9M1P olfactory receptor, family 9, subfamily M, member 1, pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52963213 52964142 + 55623068 55623997 + 55855592 55856521 + 6480464 81153 AB065784;ABBA01021460;AC036111;AMYH02024829;NG_004177 OR5BG1P APPROVED pseudo HGNC:15327 INFERRED 1345121 OR9K2 olfactory receptor, family 9, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55175406 55176413 + 55523553 55524560 + 55129769 55130776 + 6480464;8554872 12477932;14983052;24152035 441639 Q8NGE7 AB065862;ABBA01008380;AC027287;AMYH02026544;BC136988;BK004326;NM_001005243 AAI36989;BAC06080;DAA04724;NP_001005243;Q8NGE7 Hs.553827 OR12-2 OTTHUMP00000242229;olfactory receptor 9K2;olfactory receptor OR12-2 APPROVED protein-coding ENSG00000170605 HGNC:15339 15090 PROVISIONAL 1607004 OR9L1P olfactory receptor, family 9, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55201801 55203057 - 57844822 57846078 - 58077350 58078606 - 79301 ABBA01021485;AMYH02024857;AP004247;NG_002233 1751477 SHGC-105312 OR9L2P APPROVED pseudo HGNC:14761 INFERRED 1352278 OR9N1P olfactory receptor, family 9, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 136332674 136333294 + 141611202 141611822 + 141911402 141912022 + 12853948 81383 ABBA01034112;AC073647;AMYH02016923;CH236950;NG_004258 APPROVED pseudo HGNC:15096 INFERRED 1348578 OR9P1P olfactory receptor, family 9, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 137581030 137581735 - 142744168 142744873 - 143047067 143047772 - 9847074 81382 ABBA01034132;AC099652;AC245136;CH236959;NG_004257 OR9P2P APPROVED pseudo HGNC:15097 INFERRED 1349735 OR9Q1 olfactory receptor, family 9, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55303873 55306029 + 57791353 57949059 + 58023881 58181587 + 1580863;6480464 12213199;12477932;15489334 219956 Q8NGQ5 AB065734;ABBA01021483;ABBA01021484;ABBA01021485;ABBA01021486;AF399532;AMYH02024853;AMYH02024854;AMYH02024855;AMYH02024856;AMYH02024857;AP003401;AP003484;AP004247;BC110819;CH471076;NM_001005212 AAI10820;AAK95017;BAC05955;EAW73797;NP_001005212;Q8NGQ5 Hs.689841 1737043;1751477;1754829;1782234 D11S2790;SHGC-101389;SHGC-105312;SHGC-141751 MGC131737 olfactory receptor 9Q1 APPROVED protein-coding ENSG00000186509 HGNC:14724 17800 VALIDATED 1348783 OR9A1P olfactory receptor, family 9, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 136308388 136309176 + 141586948 141587736 + 141887148 141887936 + 1370859 26495 Q8NGU1 AB065690;ABBA01034112;AC011654;AC073647;AMYH02016923;CH236950;NG_002195;X64982 Q8NGU1 Hs.544835 HSHTPCRX06;HTPCRX06;OR9A1;OR9A5P olfactory receptor, family 9, subfamily a, member 1, pseudogene APPROVED pseudo HGNC:8486 INFERRED 1344431 OR9R1P olfactory receptor, family 9, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55204485 55205438 + 55552632 55553585 + 55158848 55159801 + 81140 ABBA01008382;AC027287;AMYH02026545;NG_004176 1648372 D12S1410 APPROVED pseudo HGNC:15340 INFERRED 1347898 OR9S24P olfactory receptor, family 9, subfamily S, member 24 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 234691885 234692812 + 241018850 241019777 + 240079433 240080360 + 403275 ABBA01048858;AC013469;AMYH02006093;NG_005821 OR5J6P APPROVED pseudo HGNC:31288 INFERRED 1351092 OR9Q2 olfactory receptor, family 9, subfamily Q, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55314874 55315958 + 57957906 57958990 + 58190434 58191518 + 6480464 12477932 219957 Q8NGE9 AB065859;ABBA01021486;AMYH02024857;AP004247;AX646375;BC140718;CH471076;NM_001005283 AAI40719;BAC06077;CAD69316;EAW73798;NP_001005283;Q8NGE9 Hs.553643 OR9Q2P OTTHUMP00000235901;olfactory receptor 9Q2;olfactory receptor, family 9, subfamily Q, member 2 pseudogene APPROVED protein-coding ENSG00000186513 HGNC:15328 17801 VALIDATED 6481455 ORAOV1P1 oral cancer overexpressed 1 pseudogene 1 4 4 187092017 187092411 - 186170863 186171257 - 100873907 ABBA01070550;AC110771;AMYH02010674;NG_032235 pseudo HGNC:39203 INFERRED 1606201 ORAI1 ORAI calcium release-activated calcium modulator 1 The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011] 12 12 12 q24.31 121703577 121719069 + 122064455 122079946 + 121626550 121642040 + 6480464;7240710;7204692;8554872;8699517 22914293 12477932;14702039;15489334;16147976;16341674;16582901;16645049;16733527;16766533;16807233;16921383;16978865;17045966;17218358;17224452;17360584;17400243;17442569;17452328;17684017;17702753;17905723;17968026;17991693;18006576;18096706;18187424;18190941;18239188;18250319;18326500;18400989;18403424;18420579;18436303;18448669;18506892;18542992;18569867;18644792;18768920;18832420;18843204;18845811;18995841;19075015;19088073;19171672;19182790;19185847;19189966;19228695;19249086;19260825;19289460;19366689;19403622;19429662;19433061;19447651;19487696;19506081;19622747;19675303;19706554;19754898;19843011;19887627;19946888;19965684;20004786;20007711;20018736;20037597;20073506;20194530;20194792;20354224;20395295;20534587;20587595;20607548;20887894;20961852;21224390;21239714;21266088;21300876;21321120;21364678;21383014;21408196;21420116;21441136;21487896;21640715;21670147;21674042;21782006;21790973;21847095;21865174;21873556;21945734;21956116;21987804;22031597;22110130;22144678;22253717;22278058;22298778;22381755;22384096;22387225;22389502;22494970;22495877;22546867;22549787;22556336;22586105;22640869;22641696;22681560;22778704;23043102;23049826;23115638;23184982;23203806;23212906;23307288;23447534;23455504;23512987;23512989;23515871;23685155;23700407;23703676;23774210;23800047;23816623;23890116;23890117;23943619;24040356;24043696;24056904;24241282;24317393;24321771;24351972;24558039;24583265;24591628;24755083;24954132 84876 Q96D31 ABBA01020177;ABBA01020178;ABBA01020179;AC140062;AK027372;AMYH02027397;BC013386;BC015369;BC075831;BC104633;BG574128;BG775018;BM762473;BM847154;CH471054;KF455730;KF511472;NG_007500;NM_032790 AAH13386;AAH15369;AAH75831;AAI04634;BAB55068;EAW98269;EAW98270;NP_116179;Q96D31 Hs.55148 5015961;5022322;5022578 D11S2560;D15S1477;D1S1423 CRACM1;FLJ14466;IMD9;ORAT1;TAM2;TMEM142A OTTHUMP00000240038;calcium release-activated calcium channel protein 1;calcium release-activated calcium modulator 1;protein orai-1;transmembrane protein 142A APPROVED protein-coding HGNC:25896 08599 610277;612782;615883 REVIEWED 1350406 ORC1 origin recognition complex, subunit 1 The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 1 1 1 p32 51125195 51156841 - 52838501 52870143 - 52372829 52404471 - 1580863;6480464;6907045;7240710;8554872;8699517;9479074 23642229 10436018;10438470;10523313;10681582;10954718;11095689;11125146;11323433;11716535;11739726;11779870;11809796;11931757;12045100;12393188;12477932;12614612;12791985;12909626;12909627;12912926;15226314;15232106;15342556;15454574;15684404;15707391;16226712;16344560;16710414;17066079;17081983;17474147;17716973;18029348;18761675;19197067;20360068;20800603;21085491;21115485;21358631;21358632;21358633;21906983;21963094;22045277;22333897;22398447;22589552;22855792;23187890;24003239;25015289;7502077;8884289;8943353;9566895 4998 B7Z8H0;Q13415;Q96F82 ABBA01074774;ABBA01074775;AK291909;AK303420;AL513218;AMYH02001018;BC011539;BP280383;CH471059;DB156841;NG_028251;NM_001190818;NM_001190819;NM_004153;U40152;U43416 AAA86260;AAC50325;AAH11539;BAF84598;BAH13956;EAX06783;EAX06784;NP_001177747;NP_001177748;NP_004144;Q13415 Hs.17908 1652811;1675587;1684932;1712865;1789883;1789885;1789887;1789889;1789891;1789893;1789895;1789897;1789899;1789901;1789903;1793884;2108331;2123149;5093638 A009U12;G32836;ORC1L_7845;PMC303366P7;RH120149;RH70495;RH79919;RH80351;csnporc1l-pcr10-1;csnporc1l-pcr11-1;csnporc1l-pcr14-1;csnporc1l-pcr16-1;csnporc1l-pcr17-1;csnporc1l-pcr2-1;csnporc1l-pcr5-1;csnporc1l-pcr6-1;csnporc1l-pcr7-1;csnporc1l-pcr8-1;csnporc1l-pcr9-1 HSORC1;ORC1L;PARC1 OTTHUMP00000009797;OTTHUMP00000009798;origin recognition complex 1;origin recognition complex subunit 1;origin recognition complex, subunit 1 homolog;origin recognition complex, subunit 1, S. cerevisiae, homolog-like;origin recognition complex, subunit 1-like;replication control protein 1 APPROVED protein-coding ENSG00000085840 HGNC:8487 03544 224690;601902 REVIEWED 1323514 ORC2 origin recognition complex, subunit 2 The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010] 2 2 2 q33 195529524 195583050 - 201774894 201828424 - 200910168 200963701 - 1580863;6480464;6907045;8554872 10402192;10436018;10523313;10835370;10954718;11046155;11095689;11125146;11323433;11395502;11509178;11602595;11779870;11931757;12004060;12045100;12364596;12393188;12441400;12477932;12614612;12791985;12897055;12912926;15226314;15232106;15342556;15489334;15684404;15707391;15910003;16344560;16407251;16428461;16762929;17525332;17716973;18001825;18234858;18761675;19471022;19946888;20360068;21139048;21383955;21947279;22334659;22412018;22681887;22935713;22939629;23188630;24732362;24778252;24792176;7502077;8808289;9353276;9660782;9733749;9765232 4999 B8ZZ80;C9JK08;Q13416 ABBA01062524;ABBA01062525;ABBA01062526;AC005037;AI033876;AK302614;AK316433;AMYH02005543;AY652588;BC014834;BM470184;BP264347;CA448165;CH471063;DA111542;DA545257;NM_006190;NR_033915;U27459;U40268;XM_006712555;XR_427088;XR_427089 AAB33970;AAC50326;AAH14834;AAT46690;AAY14725;ABM85709;BAG63861;BAH14804;EAW70228;EAW70229;NP_006181;Q13416;XP_006712618 Hs.444870 1646929;1648333;1789182;1789905;1789907;2108333;2170785;2181454;2191135 G65590;MARC_15249-15250:1012578106:1;ORC2L_7846;RH18054;RH65975;RH69617;SHGC-37435;csnporc2l-pcr1-1;csnporc2l-pcr13-1 ORC2L OTTHUMP00000163672;origin of replication 2-like;origin recognition complex protein 2 homolog;origin recognition complex subunit 2;origin recognition complex, subunit 2 homolog;origin recognition complex, subunit 2-like APPROVED protein-coding HGNC:8488 03112 601182 REVIEWED 1602192 ORAI3 ORAI calcium release-activated calcium modulator 3 INVOLVED IN store-operated calcium entry (inferred); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; FOUND IN integral component of membrane (inferred); INTERACTS WITH (S)-colchicine; adenine; aflatoxin B1 16 16 16 p11.2 29331449 29337301 - 30960405 30966259 + 30949084 30954938 + 6480464;7204692 22914293 12477932;15489334;16582901;17452328;17991693;18403424;18420579;18499656;19506081;19706554;19887627;20354224;20395295;20607548;20683915;21724845;21906983;22993197;23266555;24058448;24321771;24954132 93129 H3BT51;H3BTK7;H3BTY7;Q9BRQ5 ABBA01042071;ABBA01042072;AC135048;AK298276;AMYH02031837;BC006126;BC015555;BC016150;BC022786;BI561433;CH471192;NM_152288 AAH06126;AAH15555;AAH22786;BAG60537;EAW52185;EAW52186;NP_689501;Q9BRQ5 Hs.745104 1697184 RH102081 MGC13024;TMEM142C OTTHUMP00000163245;protein orai-3;transmembrane protein 142C protein-coding ENSG00000175938 HGNC:28185 14431 610930 VALIDATED 1320971 ORC5 origin recognition complex, subunit 5 The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010] 7 7 7 q22.1 98572731 98654418 - 103766788 103848495 - 104126341 104208047 - 1580863;6480464;6907045;8554872 10402192;10436018;10523313;10954718;11095689;11125146;11323433;11379876;11395502;11931757;12004060;12045100;12477932;12614612;12690205;12853948;15226314;15232106;15489334;15684404;15707391;17716973;18029348;19240061;19389623;19454010;20360068;20677014;21139048;21890473;21906983;21963094;21988832;22797925;22939629;8125298;9038340;9417919;9765232;9829972 5001 A4D0P7;B4DXT8;G3V0H0;O43913;Q53FC8 ABBA01057976;ABBA01057977;ABBA01057978;AC002067;AC007393;AF047599;AF049127;AF081459;AK223361;AK292285;AK302122;AK313596;AMYH02016456;BC023652;BF678849;CH236947;CH471070;KF510273;NG_029899;NM_002553;NM_181747;U92538;XM_006716015;XR_242242 AAC51933;AAC63972;AAC64401;AAC80283;AAF19238;AAH23652;AAM49152;ABM83200;ABM86401;BAD97081;BAF84974;BAG36362;BAG63500;EAL24408;EAL24409;EAW83341;EAW83342;EAW83343;NP_002544;NP_859531;O43913;XP_006716078 Hs.432948 1756571;1789909 SHGC-143604;csnporc5l-pcr1-1 ORC5L;ORC5P;ORC5T;PPP1R117 OTTHUMP00000211897;OTTHUMP00000211900;origin recognition complex subunit 5;origin recognition complex, subunit 5 homolog;origin recognition complex, subunit 5-like APPROVED protein-coding ENSG00000164815 HGNC:8491 09086 602331 REVIEWED 1351569 ORM1 orosomucoid 1 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008] 9 9 9 q32 87732978 87736434 + 117085303 117088759 + 114323023 114326479 + 1580863;2316639;6480464;8554872 16166348 11027547;11336643;11418606;11814462;11911961;11925509;12477932;12480518;12576428;12754519;14718574;14760718;15013397;15084671;15111541;15253437;15489334;1567356;16261636;16272158;16290938;16335952;16502470;16740002;17048007;17321687;17675532;17944232;17987628;18273814;18510947;18624398;18680736;18823996;18981009;19018521;19141860;19198000;19395425;19459043;19616527;19794411;19958090;20237496;20371432;20442402;20617306;20959405;21300760;21349832;21621584;21726491;21988832;22048274;22147846;22216449;22574522;22587817;22633841;22708402;22807450;22889924;22908695;23192962;23381943;23526947;23936770;23940561;23973664;2409529;24357727;24389491;2479939;2541064;2822385;2970990;3360326;3463531;3770479;3795040;4561179;4603214;4711474;6809283;7795416;8076819;8432561;9050929;9380773 5004 AAB33887;P02763 AB014887;ABBA01042671;AK312035;AK316207;AL356796;AMYH02021517;BC007032;BC026238;BC104818;BC104820;BC143313;BC143314;BI908589;BT019790;CH471090;EU794584;M13692;N68733;NG_012108;NM_000607;X02544;X05779 AAA35515;AAB33887;AAH26238;AAI04819;AAI04821;AAI43314;AAI43315;AAV38593;ACJ13638;BAA34292;BAG34972;BAH14578;CAA26397;CAA29229;EAW87416;NP_000598;P02763 Hs.522356 1725563;1849057;5091875 G62008;RH11587;STS-X05784 AGP 1;AGP-A;AGP1;HEL-S-153w;OMD 1;ORM OTTHUMP00000022741;alpha-1-acid glycoprotein 1;epididymis secretory sperm binding protein Li 153w;orosomucoid-1 APPROVED protein-coding ENSG00000229314 HGNC:8498 00724 138600 REVIEWED 1318236 ORC3 origin recognition complex, subunit 3 The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q14.3-q16.1 88718203 88795190 + 88299785 88377172 + 87590067 87667454 + 1580863;6480464;6907045 10402192;10436018;10702681;10954718;11095689;11125146;11230166;11323433;11395502;11931757;12004060;12045100;12441400;12477932;12614612;12791985;14702039;15226314;15232106;15489334;15684404;15707391;15910003;17525332;17716973;18628273;18761675;19074885;19471022;20360068;20800603;21139048;21832049;21890473;21903422;21906983;21963094;22939629;23251661;8125298;8889548;9829972 23595 B4DZ51;Q9UBD5;U3KQL3 ABBA01040497;ABBA01040498;ABBA01040499;ABBA01040500;ABBA01040501;ABBA01040502;ABBA01040503;AF093535;AF125507;AF135044;AK094135;AK222795;AK302750;AK303056;AK303182;AK303195;AK315911;AK316298;AL080116;AL133211;AL451126;AMYH02014055;AY623113;BC035494;BC047689;BF215571;BM971022;CH471051;CR456814;DC395106;NM_001197259;NM_012381;NM_181837;U50950;XM_005248704;XM_005248705;XM_005248706 AAA96313;AAD18057;AAD30282;AAD40220;AAH35494;AAH47689;AAT38109;ABZ92519;ACE87234;BAD96515;BAG63963;BAG64276;BAG64287;BAH13891;BAH14282;BAH14669;CAB45715;CAG33095;EAW48581;EAW48582;EAW48583;NP_001184188;NP_036513;NP_862820;Q9UBD5;XP_005248761;XP_005248762;XP_005248763 Hs.410228 2110629;2138172;5022651;5111517 D11S2921;ORC3L_9379;RH68856;STS-H99257 LAT;ORC3L LATHEO;OTTHUMP00000016835;OTTHUMP00000183452;homolog of latheo, Drosophila;origin recognition complex subunit 3;origin recognition complex subunit Latheo;origin recognition complex, subunit 3 honolog;origin recognition complex, subunit 3-like APPROVED protein-coding ENSG00000135336 HGNC:8489 05398 604972 REVIEWED 1320982 ORAI2 ORAI calcium release-activated calcium modulator 2 PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; FOUND IN growth cone (inferred); integral component of membrane (inferred); membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzene; benzo[a]pyrene 7 7 7 q22.1 97086298 97109572 + 102073977 102097268 + 102433530 102456821 + 6480464;7204692 22914293 12477932;12853948;14702039;15146197;15489334;15498874;16169070;16344560;16582901;16807233;17452328;18403424;19506081;19706554;20607548;22640869;24040356;9847074 80228 B4DUB4;C9J2H9;C9J5L2;C9JQR7;C9JUY6;Q96SN7 ABBA01011282;ABBA01011283;ABBA01011284;ABBA01011285;AC093668;AF258552;AK022536;AK027639;AK056497;AK128753;AK300574;AMYH02016437;BC009183;BC016797;BC069270;CH471197;CN366874;CR457287;DA770788;DC384892;HY064081;NM_001126340;NM_001271818;NM_001271819;NM_032831;Y10777 AAG23755;AAH69270;AAP22351;AAP22352;BAB55256;BAG62276;CAG33568;EAW50244;EAW50245;EAW50246;EAW50247;EAW50248;NP_001119812;NP_001258747;NP_001258748;NP_116220;Q96SN7 Hs.363308;Hs.736659 1339702;1699418;2125069;2136972;2219568;5014039;5014051;5014740;5015404;5015619;5015861;5015961;5016478;5016596;5017227;5017433;5020274;5020414;5020946;5020948;5021228;5021431;5022450;5022463;5022578;5022651;5024039;5024756;5037552;5109281;5117897;7185938 D10S16;D10S275;D11S2921;D11S3114;D15S1477;D16S325;D17S610;D1S1423;D1S1425;D22S1584;D3S1673;D8S2278;D8S2279;D9S757;G35510;G38154;GDB:312794;GDB:434012;GDB:631802;GDB:631813;L17688;L17702;L17705;L17971;L18441;PRKRIP1__5584;RH103300;RH80030;SHGC-57563;STS-T76997;WI-15098 C7orf19;CBCIP2;FLJ12474;FLJ14733;FLJ44818;MEM142B;TMEM142B CAP-binding protein complex interacting protein 2;CAP-binding protein complex-interacting protein 2;H_NH0514P08.8;OTTHUMP00000212415;OTTHUMP00000212416;OTTHUMP00000212417;OTTHUMP00000212418;OTTHUMP00000212419;OTTHUMP00000212421;chromosome 7 open reading frame 19;protein orai-2;putative protein ORAI2-2;transmembrane protein 142B protein-coding ENSG00000160991 HGNC:21667 09860 610929 VALIDATED 1347149 ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 INVOLVED IN ceramide metabolic process; FOUND IN endoplasmic reticulum membrane; INTERACTS WITH copper(2+) sulfate; cyclosporin A; disodium selenite 2 2 2 q32 184229906 184244025 - 190634993 190649097 - 189770267 189784371 - 1580863;6480464 11042152;12093374;12477932;14702039;16303743;16344560;17928364;20639394;21139048;21832049;21890473;21906983;23066021;24250222 94101 B9A069;F6WST4;Q9P0S3 AA603217;AB064959;AB064960;ABBA01062380;AC013468;AF151036;AF395701;AF395702;AF395704;AI674061;AK074756;AK075160;AK126336;AK313533;AMYH02005429;AMYH02005430;BC005200;CH471058;CQ782688;CQ783848;CR936635;CS185551;DB122266;NM_001128150;NM_016467;XM_005246970;XM_005246971;XM_006712863 AAF36122;AAH05200;AAM43502;AAM43503;AAY14772;ADZ15767;BAC11184;BAC11441;BAC11710;BAC11711;BAG36310;CAF85924;CAF86890;CAI56776;CAJ42732;EAX10887;EAX10888;EAX10889;NP_001121622;NP_057551;Q9P0S3;XP_005247027;XP_005247028;XP_006712926 Hs.700632 1679722;1725689;1763933;2114851;2144393;2173416;2184854;5022578;5037552 D1S1423;D8S2279;G62048;RH70070;RH93649;SGC38239;SHGC-147596;SHGC-61985;WI-18706 DKFZp686G141;FLJ44364 ORM1-like protein 1;OTTHUMP00000163495;OTTHUMP00000163496;OTTHUMP00000205712;OTTHUMP00000205713;OTTHUMP00000205714;adoplin-1 APPROVED protein-coding ENSG00000128699 HGNC:16036 15092 610073 VALIDATED 1312190 ORAOV1 oral cancer overexpressed 1 INTERACTS WITH 2-methylcholine; atrazine; cyclosporin A 11 11 11 q13.3 66777361 66787192 - 69480331 69490165 - 69665563 69675397 - 6480464 12172009;12477932;15489334;17005439;18688849;19322201;19493886;20105337;20453838;21145461;21623924;21993861;22678362;22939629;23318452;24250222 220064 A6YPU5;F5GWS9;F5GXG7;F5GZY6;F5H179;F5H6T8;F5H8D9;H3BPK6;Q8WV07 ABBA01010292;AF503940;AK026600;AK125280;AK126490;AK294004;AK311918;AMYH02025037;AP001888;BC006448;BC019024;BC065542;CH471076;EF639695;JX460858;KC427269;NM_153451;XM_006718470 AAH19024;AAH65542;AAM97902;ABR37294;AFR45922;BAG34859;BAG57366;EAW74749;EAW74750;NP_703152;Q8WV07;XP_006718533 Hs.667996 5037552 D8S2279 TAOS1 OTTHUMP00000237172;OTTHUMP00000237174;OTTHUMP00000237177;oral cancer overexpressed protein 1-A;oral cancer-overexpressed protein 1;tumor-amplified and overexpressed sequence 1 protein-coding ENSG00000149716 HGNC:17589 06245 607224 VALIDATED 1605693 OS9 osteosarcoma amplified 9, endoplasmic reticulum lectin This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 12 12 12 q13 57745335 57772930 + 58087738 58115340 + 57693955 57721557 + 6480464;6483358;6907045 19364912 10403379;12077121;12093806;12477932;12747754;15146197;15231748;15721254;16169070;16344560;17932042;18264092;18417469;18502753;18711132;18952287;19084021;19346256;19706418;19914915;20546900;20549515;20936779;21118962;21172656;21404621;21559462;21857022;21890473;21906983;21917589;21963094;21988832;22190034;22268729;23097496;23356641;23464991;23867461;23956138;24250222;24390342;24795221;24816145;8090779;8634085;9192850;9498564;9562620 10956 B4E321;F8VWQ2;F8VZI7;F8W0R2;F8W1N0;F8W1V2;Q13438 AB002805;AB002806;ABBA01026694;AC025165;AK129781;AK130733;AK291374;AK293435;AK294870;AK296770;AK298532;AK303291;AK303858;AK304533;AL137691;AMYH02026593;AU132426;BC000532;BC006506;BC007254;BC023513;BQ954079;CH471054;CN335053;CR456791;EF036505;NG_029228;NM_001017956;NM_001017957;NM_001017958;NM_001261420;NM_001261421;NM_001261422;NM_001261423;NM_006812;U09408;U41635;U81031;XM_005268581;XM_006719200;XM_006719201 AAB06495;AAC39523;AAH00532;AAH06506;AAH07254;AAH23513;ABM83685;ABM86982;ABO65091;BAA24362;BAA24363;BAF84063;BAG56939;BAG57972;BAG59349;BAG60733;BAG64798;BAG65333;BAH13933;CAG33072;EAW97044;EAW97045;EAW97046;EAW97047;NP_001017956;NP_001017957;NP_001017958;NP_001248349;NP_001248350;NP_001248351;NP_001248352;NP_006803;Q13438;XP_005268638;XP_006719263;XP_006719264 Hs.527861 2167648;5491417 D9S2056;MARC_11519-11520:1001089863:1 ERLEC2;OS-9 OTTHUMP00000243422;OTTHUMP00000243423;OTTHUMP00000243428;OTTHUMP00000243429;OTTHUMP00000243431;OTTHUMP00000243432;OTTHUMP00000243433;OTTHUMP00000243435;amplified in osteosarcoma 9;endoplasmic reticulum lectin 2;erlectin 2;osteosarcoma amplified 9, endoplasmic reticulum associated protein APPROVED protein-coding ENSG00000135506 HGNC:16994 17804 609677 REVIEWED 1352369 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 INVOLVED IN ceramide metabolic process; FOUND IN endoplasmic reticulum; SPOTS complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 17 17 17 q12 34737556 34744114 - 38077294 38083884 - 39921042 39927631 - 1580863;6480464 11042152;12093374;12477932;14702039;15489334;16169070;16303743;16344560;17207965;17611496;18155279;18310477;18395550;18587394;18760456;19133921;19175592;19264973;19322201;19430480;19732864;19819884;19820697;20182505;20228799;20372189;20503266;20601676;20639880;20816195;20860503;21072187;21102463;21139048;21150878;21297633;21399635;21546069;21738480;21829393;21832049;21843571;21890473;21906983;22015541;22017802;22271045;22561531;22732088;22889411;22986918;23000144;23011799;23066021;23096927;23100328;23128233;23157251;23461825;23577138;23964555;24204796;24219690 94103 J3KTF9;J3QRM9;Q8N138 ABBA01031852;AC090844;AF151043;AF373101;AF373102;AF395708;AK074811;AK075212;AK093063;AMYH02033389;AX059854;AX775843;AY357943;BC000638;BC017087;BC018837;BC050710;BC054042;BC071833;CH471152;CQ782744;CQ783311;CS300504;DB127807;NM_139280;XM_005257825;XM_005257827 AAF36129;AAH17087;AAH71833;AAM43507;AAN76521;AAN76522;AAQ57273;ADQ31970;BAC11223;BAC11476;BAG52645;CAC24860;CAE11621;CAF85976;CAF86524;CAK32168;EAW60616;EAW60617;EAW60618;EAW60619;EAW60620;NP_644809;Q8N138;XP_005257882;XP_005257884 Hs.514151 1648167;2107477;5014053 D1S3693;ORMDL3__7060;STS-N90879 ORM1-like protein 3;OTTHUMP00000164333;OTTHUMP00000164334 APPROVED protein-coding ENSG00000172057 HGNC:16038 17803 610075 VALIDATED 1322900 ORC6 origin recognition complex, subunit 6 The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010] 16 16 16 q12 31231720 31240492 + 46723558 46732306 + 46689646 46698394 + 1580863;6480464;6907045;7240710;8554872;8699517 10436018;10523313;10945994;11076863;11095689;11125146;11323433;11593009;11931757;12004060;12045100;12169736;12477932;12614612;14702039;15226314;15232106;15489334;15489336;15684404;15707391;15910003;16381901;17081983;17716973;18234858;18761675;19112505;19471022;19541634;19946888;21358632;21461783;21502537;21832049;21906983;21963094;22505724;23000965;24250222;24816145;8266075 23594 H3BMA4;H3BT22;H3BTQ7;Q9Y5N6 ABBA01013770;ABBA01013771;AC007225;AF139658;AK021946;AK024019;AK024077;AK310633;AMYH02031967;BC039032;BC050725;BC063565;BG822640;CH471092;NG_028241;NM_014321;NR_037620 AAD32666;AAH39032;AAH63565;BAB14817;BAG51061;BAG51251;CAL37524;CAL37788;CAL38556;EAW82685;EAW82686;NP_055136;Q9Y5N6 Hs.49760 1659353;1689745;5037670 D3S4354;RH70418;SHGC-33562 ORC6L OTTHUMP00000163361;origin recognition complex subunit 6;origin recognition complex, subunit 6 homolog-like;origin recognition complex, subunit 6 homolog-like (yeast);origin recognition complex, subunit 6 like APPROVED protein-coding ENSG00000091651 HGNC:17151 06237 607213;613803 REVIEWED 1343496 ORC4 origin recognition complex, subunit 4 The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010] 2 2 2 q22-q23 142405877 142493295 - 148687966 148779173 - 147930397 148021604 - 1580863;6480464;6907045;7240710;8554872;8699517 10402192;10436018;10460412;10523313;10954718;11095689;11125146;11323433;11395502;11483529;11931757;12004060;12045100;12477932;12614612;12791985;14702039;15226314;15232106;15342556;15489334;15684404;15707391;15910003;16344560;17716973;19074885;19454010;19690980;20010161;21139048;21358631;21358632;21383955;21832049;21890473;21906983;21963094;21988832;22053931;22333897;23263486;24250222;8125298;9353276;9691185;9765232;9829972 5000 A8K7H4;B7Z632;C9J2X8;C9JGH7;O43929;Q53SE3;Q96B14 ABBA01028010;ABBA01028011;ABBA01028012;ABBA01028013;ABBA01028014;AC009480;AC019226;AF022108;AF047598;AF132596;AK055257;AK128860;AK225092;AK291989;AK294878;AK295721;AK298862;AK299749;AMYH02004949;AV708885;AY600302;BC005388;BC014847;BC016177;BI603609;BM468640;BM926755;BP277082;BP345092;BQ716497;BX423253;CD242597;CH471058;DA120022;DA227202;DB558580;DC302315;DC317404;DC329505;DC365436;DC365653;DC399282;DC399552;NG_028252;NM_001190879;NM_001190881;NM_001190882;NM_002552;NM_181741;NM_181742;XM_006712556 AAC01957;AAC80282;AAD22110;AAH14847;AAH16177;AAS94326;AAX93051;AAY24232;ABZ92520;BAF84678;BAH11910;BAH12166;BAH12887;BAH13118;EAX11555;EAX11556;EAX11557;EAX11558;EAX11559;EAX11560;NP_001177808;NP_001177810;NP_001177811;NP_002543;NP_859525;NP_859526;O43929;XP_006712619 Hs.558364 1657704;1659819;1686654;1716191;2160291;2191259;2219412;5015615;5016403 D11S3076;G02304;G09491;G31525;G35009;MARC_16821-16822:1021560530:2;ORC4L__5787;RH121118;RH98206 FLJ46668;ORC4L;ORC4P OTTHUMP00000162673;origin recognition complex subunit 4;origin recognition complex, subunit 4 homolog;origin recognition complex, subunit 4-like APPROVED protein-coding ENSG00000115947 HGNC:8490 09118 603056;613800 REVIEWED 1317627 OSBP oxysterol binding protein Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008] 11 11 11 q12-q13 56704609 56746356 - 59341871 59383617 - 59574398 59616144 - 1580863;6480464 10588946;11278871;11735225;12023275;12477932;15302935;15489334;15746430;16571669;17081983;1730758;18165705;19322201;19570870;1970801;19913121;20178991;20444975;20545625;20628086;21139048;21285358;21906983;21988961;22113938;22145905;22863883;22875984;23000965;24209621;24654937;24816145;24885147;25036637 5007 H0YCV6;P22059 ABBA01021504;ABBA01021505;AF185696;AF185697;AF185698;AF185699;AF185700;AF185701;AF185702;AF185703;AF185704;AF185705;AK299071;AK310538;AMYH02024865;AP000442;BC011581;BC017975;BC051350;BC063121;CH471076;KF455392;M86917;NM_002556 AAA59973;AAG17011;AAG28373;AAH11581;AAH63121;BAG61137;EAW73849;NP_002547;P22059 Hs.597091 1667888;1725785;1742529;1774569;2117821;2129690;2219416;5014063 A006U09;D15S1390;G62074;GDB:197854;OSBP;OSBP__5791;RH11618;RH70353 OSBP1 OTTHUMP00000235906;oxysterol-binding protein 1 APPROVED protein-coding ENSG00000110048 HGNC:8503 01327 167040 REVIEWED 6481156 OSBPL10-AS1 OSBPL10 antisense RNA 1 3 3 31745705 31763078 + 31704213 31721586 + 100874206 ABBA01024952;AC092024;AMYH02006485;AW468844;BX103488;HG495573;HG495574;HG495576;NR_049771 Hs.662428 AC092024.2 APPROVED ncrna ENSG00000232490 HGNC:40767 VALIDATED 1321446 OSBP2 oxysterol binding protein 2 The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2013] 22 22 22 q12.2 14890919 15103949 + 31089769 31303811 + 30693782 30907824 + 1580863;6480464;8554872 10446991;10591208;11258795;11278871;11295104;11483621;11735225;11802775;12477932;12964051;14702039;17350617;17428193;18294060;19322201;19913121;20379614;20628086;21763455;21900206;23028956;23648065;24069433;24742681;24885147 23762 B0QYF9;B4DFA8;C9J7J0;C9JS84;H7C001;H7C1R2;H7C313;H7C368;H7C428;Q6ZN50;Q969R2 AB051451;ABBA01055304;ABBA01055305;ABBA01055306;ABBA01055307;ABBA01055308;ABBA01055309;ABBA01055310;ABBA01055311;ABBA01055312;ABBA01055313;ABBA01055314;AC004542;AF288741;AF288742;AF323731;AK093196;AK097581;AK131374;AK294007;AK296354;AK296525;AK300323;AL022336;AL079299;AMYH02038219;AMYH02038220;AMYH02038221;AMYH02038222;AMYH02038223;AMYH02038224;BC004340;BC018025;BC118914;CH471095;KF457397;NM_001282738;NM_001282739;NM_001282740;NM_001282741;NM_001282742;NM_030758;XM_005261465;XM_006724203;XM_006724204;XM_006724205;XM_006724206;XM_006724207;XM_006724208;XM_006724209 AAC12953;AAG53406;AAI18915;AAK56864;AAK56865;BAB33334;BAC04091;BAD18525;BAG57369;BAG59036;BAG59156;BAG62075;EAW59916;EAW59917;EAW59918;EAW59919;NP_001269667;NP_001269668;NP_001269669;NP_001269670;NP_001269671;NP_110385;Q969R2;XP_005261522;XP_006724266;XP_006724267;XP_006724268;XP_006724269;XP_006724270;XP_006724271;XP_006724272 Hs.517546 1652220;1659843;1711596;1711598;1748395;1856807;2109611;2114162;2125835;2141149;2141151;2143108;2144297;2147336;5093902;7184821 1200;A002C02;A009Y34;AL021657;D22S1544;D22S447;D22S999E;G18178;G19912;G32991;G49299;G49300;G65732;OSBP2_9399;SGC34075;SHGC-58288 HLM;ORP-4;ORP4;OSBPL1;OSBPL4 OSBP-related protein 4;OTTHUMP00000199262;OTTHUMP00000199263;OTTHUMP00000199264;OTTHUMP00000199265;OTTHUMP00000199270;OTTHUMP00000199271;OTTHUMP00000199272;oxysterol binding protein-like 1;oxysterol binding protein-related protein 4;oxysterol-binding protein 2;oxysterol-binding protein-related protein 4 APPROVED protein-coding ENSG00000184792 HGNC:8504 09471 606729 REVIEWED 1350183 OSBPL10 oxysterol binding protein-like 10 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 3 3 3 p22.3 31639913 31959930 - 31702317 32023342 - 31660825 31981850 - 1580863;6480464;8554872 11483621;11735225;12477932;15489334;16806233;17428193;18029348;19554302;19615732;20224571;20379614;20610895;21139048;21890473;21906983;21963094;21987572;21988832;22906437;23000965;24281739;24347629;24885147 114884 H7C199;H7C487;Q9BXB5;Q9NX98 AB209872;ABBA01024948;ABBA01024949;ABBA01024950;ABBA01024951;ABBA01024952;ABBA01024953;AC092024;AC107620;AC108485;AF346291;AF392451;AI798005;AK000370;AK024945;AK304067;AL389943;AL833247;AMYH02006484;AMYH02006485;AMYH02006486;AMYH02006487;AMYH02006488;AMYH02006489;BC003168;CH471055;DC377079;NM_001174060;NM_017784;XM_005264843;XM_005264844;XM_005264845 AAH03168;AAK31140;AAL40664;BAA91118;BAD93109;BAG64974;EAW64417;EAW64418;NP_001167531;NP_060254;Q9BXB5;XP_005264900;XP_005264901;XP_005264902 Hs.150122 1667761;1714987;1764579;1778840;2113718;2124744;2144706;2158620;2166237;5022578;5037552;5093140;5123979 A004W44;A009H21;AB070092;D1S1423;D3S3433;D3S3437;D8S2279;G29155;G32544;RH120830;RH93690;SHGC-148170;SHGC-76803 FLJ20363;ORP-10;ORP10;OSBP9 OSBP-related protein 10;OTTHUMP00000161257;OTTHUMP00000208754;OTTHUMP00000208755;oxysterol-binding protein-related protein 10 APPROVED protein-coding HGNC:16395 09480 606738 REVIEWED 737236 ORM2 orosomucoid 2 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008] 9 9 9 q32 87739746 87743213 + 117092069 117095536 + 114329789 114333256 + 1580863;6480464 11336643;11587070;11752456;12477932;12480518;12528117;14760718;15084671;15253437;15489334;1567356;15863355;16290938;16331959;16335952;16502470;17048007;17207965;17987628;19018521;19584153;19958090;20237496;20617306;21988832;22363757;23867815;24389491;2822385;2970990;3631077;3679210;4603214;4711474;7795416 5005 P19652 ABBA01042670;AK303760;AK312226;AL356796;AMYH02021517;AV661485;BC015964;BC056239;CH471090;CR456930;M21540;NM_000608;X06674;X06675;X06676;X06677;X06678;X06679;X06680 AAA51549;AAH15964;AAH56239;ADQ33217;BAG35159;BAG64727;CAA29873;CAA29874;CAG33211;EAW87417;NP_000599;P19652 Hs.719954 1656047;1725563;1849057;5091875 G17343;G62008;RH11587;STS-X05784 AGP 2;AGP-B;AGP-B';AGP2;OMD 2 OTTHUMP00000022746;alpha-1-acid glycoprotein 2;alpha-1-acid glycoprotein, type 2;orosomucoid-2 APPROVED protein-coding ENSG00000228278 HGNC:8499 00725 138610 REVIEWED 1350234 OSBPL3 oxysterol binding protein-like 3 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 7 7 7 p15 24824627 25008750 - 24836159 25019818 - 24796537 24980212 - 1580863;6480464;8554872 10588946;11483621;11568019;11735225;12477932;12590732;12690205;12853948;14593528;15324660;15489334;15778465;16143324;17353931;17428193;17979178;18270267;18854154;19322201;19946888;20379614;21890473;21906983;21963094;22190034;23000965;23028956;23428468;23830809;24654937;24816145;24885147;9734811;9847074 26031 C9J8P4;C9JEF2;C9JZ19;Q9H4L5 AB014604;ABBA01056726;ABBA01056727;ABBA01056728;ABBA01056729;AC003093;AC004008;AC004016;AC004239;AF323727;AF392444;AF491781;AF491782;AF491783;AF491784;AF491785;AF491786;AF515639;AF515640;AL832293;AMYH02015378;AMYH02015379;AMYH02015380;AMYH02015381;AW241639;AY008372;BC017731;CH236948;CH471073;DR003143;NM_015550;NM_145320;NM_145321;NM_145322;NR_104111;NR_104112;XM_005249698;XM_006715681;XM_006715682;XM_006715683;XM_006715684;XR_428073;XR_428074;XR_428075 AAB83939;AAC26986;AAG23400;AAG53408;AAH17731;AAL40657;AAM27386;AAM27387;AAM27388;AAM27389;AAM27390;AAM27391;AAM74165;AAM74166;BAA31679;EAL24240;EAL24241;EAL24242;EAL24243;EAL24244;EAL24245;EAW93818;EAW93819;EAW93820;EAW93821;NP_056365;NP_663160;NP_663161;NP_663162;Q9H4L5;XP_005249755;XP_006715744;XP_006715745;XP_006715746;XP_006715747 Hs.520259 1335638;1644203;1646760;1663165;1691512;1691700;1696802;1756337;1768387;2119465;2141920;2156730;2156946;2178033;7187786;7187793 D1S1633;D7S2031;D7S2493;G42153;G42168;G49144;GDB:1318034;GDB:1318308;GDB:1318553;RH11032;RH12073;RH45727;SHGC-143320;STS-R64600 DKFZp667P1518;KIAA0704;MGC21526;ORP-3;ORP3;OSBP3 OSBP-related protein 3;OTTHUMP00000122489;OTTHUMP00000122490;OTTHUMP00000122491;OTTHUMP00000202008;OTTHUMP00000202009;OTTHUMP00000202019;OTTHUMP00000202020;oxysterol-binding protein 3;oxysterol-binding protein-related protein 3 APPROVED protein-coding ENSG00000070882 HGNC:16370 09474 606732 REVIEWED 1322699 OSBPL2 oxysterol binding protein-like 2 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014] 20 20 20 q13.33 57548717 57606426 + 60813541 60871269 + 62238485 62296213 + 1580863;6480464;8554872 10588946;11181995;11279184;11483621;11735225;11780052;11861666;12477932;14702039;15489334;16344560;17428193;19224871;19322201;19554302;19913121;20628086;21139048;21890473;21906983;23028956;23535732;24654937;24885147;25077649;9872452 9885 B4DKJ8;E7ET92;H0Y7X4;Q6ZTC4;Q9H1P3 AB018315;ABBA01040099;ABBA01040100;AF331963;AF392447;AK000230;AK093592;AK124174;AK126744;AK291851;AK296595;AK315576;AL078633;AL354836;AMYH02037418;AMYH02037419;AY028168;BC000296;BC004455;BC018812;BC132993;BF507780;CH471077;CR456722;DA301911;NM_001278649;NM_014835;NM_144498;XM_005260625;XR_109635;XR_112171;XR_254004 AAG53416;AAH00296;AAH04455;AAK18044;AAL40660;ABM82322;ABM85501;BAA34492;BAC86668;BAF84540;BAG37950;BAG59210;CAG33003;EAW75377;EAW75378;EAW75379;EAW75380;NP_001265578;NP_055650;NP_653081;Q6ZTC4;Q9H1P3;XP_005260682 Hs.473254;Hs.711994 2114010;2130988;5015961;5016781;5020944;5022322;5037552 AB063037;AF044685;D11S2560;D15S1477;D8S2279;SHGC-67307;STS-N95070 FLJ20223;KIAA0772;MGC4307;MGC8342;ORP-2;ORP2 OSBP-related protein 2;OTTHUMP00000031478;OTTHUMP00000031479;oxysterol-binding protein-like 2;oxysterol-binding protein-related protein 2 APPROVED protein-coding ENSG00000130703 HGNC:15761 09473 606731 REVIEWED 1318150 OSBPL5 oxysterol binding protein-like 5 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010] 11 11 11 p15.4 3142226 3222215 - 3108345 3186582 - 3087116 3165352 - 1580863;6480464 10588946;10819331;11076863;11230166;11483621;11735225;12477932;12504849;14702039;15489334;15489336;16381901;16806233;17081983;17428193;17474147;19019082;19032366;19946888;20201924;20644730;21139048;21220512;21832049;21890473;23000965 114879 A8KAD5;B4DVB0;E9PIJ6;E9PJE6;E9PLN3;E9PNH0;E9PPQ2;E9PQB4;E9PRA9;H0YCD7;Q9H0X9 AB074006;ABBA01032069;ABBA01032070;ABBA01032071;ABBA01032072;ABBA01032073;AC108448;AF331964;AF392453;AF410430;AK055617;AK056510;AK124919;AK293000;AK297475;AK301003;AK303205;AK309411;AL136918;AMYH02024200;AMYH02024201;AMYH02024202;BC017505;BC032646;BC039579;CH471158;DC400863;KC877382;KF455307;KF455310;NG_009548;NM_001144063;NM_020896;NM_145638 AAG53417;AAH17505;AAH32646;AAH39579;AAK98617;AAL40666;BAB85686;BAF85689;BAG51544;BAG51735;BAG54112;BAG59896;BAG62622;BAG64295;CAB66852;CAL37769;CAL38302;EAX02542;EAX02543;NP_001137535;NP_065947;NP_663613;Q9H0X9 Hs.436166 1681139;1738175;1761453 D11S3806;RH92244;SHGC-145461 FLJ42929;OBPH1;ORP-5;ORP5 OSBP-related protein 5;OTTHUMP00000013404;OTTHUMP00000013405;OTTHUMP00000229527;OTTHUMP00000230479;oxysterol-binding protein homolog 1;oxysterol-binding protein homologue 1;oxysterol-binding protein-related protein 5 APPROVED protein-coding ENSG00000021762 HGNC:16392 09475 606733 REVIEWED 1313791 ORMDL2 ORMDL sphingolipid biosynthesis regulator 2 INVOLVED IN ceramide metabolic process; FOUND IN endoplasmic reticulum; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 12 12 12 q13.2 55864167 55867320 + 56211806 56214959 + 55818022 55821175 + 6480464 11042152;12093374;12477932;15489334;21906983;21987572;23066021;8125298 29095 F8VWV8;F8VXD5;Q53FV1 AB064961;ABBA01008390;AC023055;AF161509;AF173375;AF395705;AF395706;AF395707;AK223180;AK314046;AMYH02026552;AW339474;BC012543;BG750383;CH471054;NM_014182 AAF29124;AAH12543;AAM43504;AAM43505;AAM43506;AAQ13618;ACE86589;ACE87271;BAC11712;BAD96900;BAG36755;EAW96840;NP_054901;Q53FV1 Hs.534450 1654650;1666630 SHGC-64831;WI-12249 HSPC160;MST095;MSTP095;adoplin-2 ORM1-like protein 2;OTTHUMP00000243218;OTTHUMP00000243219;OTTHUMP00000243221;expressed in normal aorta APPROVED protein-coding HGNC:16037 17802 610074 VALIDATED 1318914 OSBPL6 oxysterol binding protein-like 6 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 2 q32.1 172662267 172863763 + 179059208 179264160 + 178194481 178399433 + 1580863;6480464;8554872 10588946;11483621;11735225;12477932;14593528;14702039;18854154;19401682;19596235;22190034;22747683;23166209;24250222;24885147 114880 Q9BZF3 AB208898;ABBA01062243;ABBA01062244;AC009948;AC011238;AC011743;AF323728;AF392448;AF462443;AK025168;AK027600;AK093902;AK123248;AK300389;AMYH02005324;AMYH02005325;BC021248;BC052259;BX647557;CA425863;CH471058;NM_001201480;NM_001201481;NM_001201482;NM_032523;NM_145739;XM_005246268;XM_006712231;XM_006712232 AAG53409;AAH21248;AAH52259;AAL40661;AAP97711;AAX88881;AAY15090;BAB55223;BAC04248;BAD92135;BAG62123;EAX11039;EAX11040;EAX11041;EAX11042;EAX11043;NP_001188409;NP_001188410;NP_001188411;NP_115912;NP_665682;Q9BZF3;XP_005246325;XP_006712294;XP_006712295 Hs.318775 1724085;1724093;2132439;2154664;2174802;2181055;5017170;5020948;5124254 D2S1605E;D2S1970;G09529;G35510;L29953;RH118784;RH118788;RH12373;RH93339 DKFZp686M06110;FLJ36583;FLJ41254;MGC59642;ORP-6;ORP6 OSBP-related protein 6;OTTHUMP00000205303;OTTHUMP00000205304;OTTHUMP00000205306;OTTHUMP00000205307;OTTHUMP00000205308;oxysterol-binding protein-related protein 6 APPROVED protein-coding ENSG00000079156 HGNC:16388 09476 606734 REVIEWED 1348483 OSBPL8 oxysterol binding protein-like 8 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q14 76411526 76618915 - 76745577 76953589 - 76351797 76559809 - 1580863;6480464;8554872 10819331;11483621;11735225;12168954;12477932;14702039;15489334;16806233;17081983;1735225;17428193;17672918;17991739;18029348;19946888;20379614;20562859;21139048;21698267;21890473;21906983;22586326;22797925;22990118;23028956;24163370;24333576 114882 F8VQX7;F8VS33;F8VUA7;F8VVD3;F8VVE7;F8VZ43;F8VZB8;F8W060;F8W1F1;Q5HYM3;Q9BZF1 AB040884;ABBA01053545;ABBA01053546;ABBA01053547;ABBA01053548;AC117491;AC122687;AC124943;AF173895;AF323730;AF392452;AK055835;AK092160;AK172813;AK289997;AL049923;AL832876;AMYH02026784;AMYH02026785;AMYH02026786;BC012935;BC082235;BC093834;BC101529;BC111728;BC143251;BX647211;CH471054;CR749542;NM_001003712;NM_020841;XM_005268621;XM_005268622;XM_005268623;XM_006719222;XM_006719223;XM_006719224 AAG53411;AAH12935;AAH82235;AAH93834;AAI01530;AAI11729;AAL40665;AAQ13642;BAA95975;BAB71026;BAD18783;BAF82686;CAH18345;CAI46050;EAW97324;EAW97325;EAW97326;EAW97327;NP_001003712;NP_065892;Q9BZF1;XP_005268678;XP_005268679;XP_005268680;XP_006719285;XP_006719286;XP_006719287 Hs.430849 1649159;1668742;1686026;1768025;1855155;2120310;2219414 A008I27;D12S1061;D12S1458;OSBPL8__5792;RH68111;RH93610;WI-17709 DKFZp686A11164;MGC126578;MGC133203;MST120;MSTP120;ORP-8;ORP8;OSBP10 OSBP-related protein 8;OTTHUMP00000242347;OTTHUMP00000242348;OTTHUMP00000242349;OTTHUMP00000242350;OTTHUMP00000242351;oxysterol-binding protein-related protein 8 APPROVED protein-coding ENSG00000091039 HGNC:16396 09478 606736 REVIEWED 7246245 OSBPL9P1 oxysterol binding protein-like 9 pseudogene 1 3 3 3 p12.2 80956862 80958493 + 80212487 80214118 + 80163337 80164968 + 100130821 ABBA01031038;AC106726;AMYH02007134;NG_022251 1710444;1723953 RH118709;SHGC-82520 pseudo HGNC:48731 INFERRED 1323003 OSBPL9 oxysterol binding protein-like 9 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010] 1 1 1 p32.3 50369074 50541429 + 52082546 52254891 + 51616874 51789219 + 1580863;6480464 11483621;11735225;12477932;14702039;15212954;16344560;16962287;19129476;19377067;19413330;19554302;19615732;19913121;20599956;20628086;20811636;21139048;21890473;24654937;24816145;24885147 114883 B1AKJ6;E9PJ80;E9PK98;E9PKX6;E9PLH0;E9PNR1;G8JLK0;H0YCW0;H0YDB5;H0YE19;H0YE93;Q96SU4 AB208851;ABBA01074788;ABBA01074789;ABBA01074790;ABBA01074791;ABBA01074792;AF392445;AK022554;AK027535;AK027707;AK056617;AK074392;AK091703;AK124037;AK128043;AK297656;AK315167;AL050343;AL772260;AL831767;AMYH02001001;AMYH02001002;AX118917;AX392097;AX879340;AY178997;BC006160;BC025978;BQ230093;CH471059;CR457288;DB081133;EL953716;KF495941;NM_024586;NM_148904;NM_148905;NM_148906;NM_148907;NM_148908;NM_148909;NR_036662;XM_006710318;XM_006710319;XM_006710320;XM_006710321;XM_006710322;XM_006710323;XM_006710324;XM_006710325;XM_006710326 AAH06160;AAH25978;AAL40658;AAO20108;BAB14096;BAB55184;BAB55312;BAC03727;BAD92088;BAG51766;BAG53995;BAG54621;BAH12642;CAC38532;CAD28990;CAE90471;CAG33569;EAX06810;EAX06811;EAX06812;EAX06813;EAX06814;EAX06815;EAX06816;EAX06817;EAX06818;EAX06819;NP_078862;NP_683702;NP_683703;NP_683704;NP_683705;NP_683706;NP_683707;Q96SU4;XP_006710381;XP_006710382;XP_006710383;XP_006710384;XP_006710385;XP_006710386;XP_006710387;XP_006710388;XP_006710389 Hs.21938;Hs.738830 1337801;1663238;1670096;1686102;1706922;2122287;2146389;2185801;7187803 D1S231;HSC20B072;RH11811;RH44964;SHGC-35117;SHGC-74825;SHGC-74833;SHGC-80950 FLJ12492;FLJ14629;FLJ14801;FLJ32055;FLJ34384;MGC15035;ORP-9;ORP9 OSBP-related protein 9;OTTHUMP00000009940;OTTHUMP00000009941;OTTHUMP00000009942;OTTHUMP00000009943;OTTHUMP00000009985;OTTHUMP00000231673;OTTHUMP00000231677;OTTHUMP00000231678;oxysterol-binding protein-related protein 9 APPROVED protein-coding ENSG00000117859 HGNC:16386 09479 606737 REVIEWED 7246424 OSBPL9P3 oxysterol binding protein-like 9 pseudogene 3 11 11 11 88150018 88150610 + 90849130 90849722 + 91115962 91116554 + 100420591 ABBA01040066;AMYH02025333;AP003386;NG_024546 1686102 RH44964 pseudo HGNC:48733 INFERRED 7246787 OSBPL9P2 oxysterol binding protein-like 9 pseudogene 2 11 11 11 q14.3 88147926 88150603 - 90847044 90849715 - 91113876 91116547 - 17903295;17903303;20041166 100130038 ABBA01040066;AMYH02025333;AP003386;NG_023263 1686102;1718523;1728383;1731549;1732271;1765479;2149423;2183080 D11S1259;D11S1825;D11S4037;D11S4952;G63474;RH122463;RH44964;SHGC-148962 pseudo HGNC:48732 INFERRED 1319316 OSBPL7 oxysterol binding protein-like 7 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q21 42337538 42351952 - 45884733 45899169 - 47807367 47821803 - 1580863;6480464 11483621;11735225;12477932;14593528;15489334;17428193;18976975;19913121;20379614;20628086;20686565;21669198;21763455;23535033;24097068;8889548 114881 J3QLK7;J3QSC2;Q8WXP9;Q9BZF2 AB208886;ABBA01041146;AC003665;AF323729;AF392446;AI955239;AK289523;AMYH02033528;BC028010;BC065482;BM674891;CH471109;NM_145798;XM_005257010 AAG53410;AAH28010;AAH65482;AAL40659;BAD92123;BAF82212;EAW94800;EAW94801;EAW94802;EAW94803;NP_665741;Q9BZF2;XP_005257067 Hs.463320 1681454;1720965;2141193;2191451 G59312;MARC_23479-23480:1041546652:1;RH64830;STS-AA039646 MGC71150;ORP-7;ORP7 OSBP-related protein 7;oxysterol-binding protein-related protein 7 APPROVED protein-coding ENSG00000006025 HGNC:16387 09477 606735 REVIEWED 1316402 OSBPL11 oxysterol binding protein-like 11 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq, Jul 2008] 3 3 3 q21 123657393 123724531 - 125247702 125314381 - 125528858 125595537 - 1580863;6480464 11483621;11735225;12477932;14702039;15302935;15489334;16344560;16964243;17081983;19322201;19325544;19615732;19913121;20599956;20628086;20811636;21139048;21145461;21832049;21890473;21906983;21963094;22863883;23000965;23028956;23503679;23667531;24654937;24885147;8619474;9110174 114885 Q9BXB4;Q9GZM0 ABBA01016412;ABBA01016413;ABBA01016414;ABBA01016415;ABBA01016416;ABBA01016417;ABBA01016418;AC016959;AF318344;AF346292;AF392454;AK023074;AK023226;AK292702;AMYH02007579;AY007102;BC010422;BC065213;BX506747;CH471052;DA112146;DA722217;NM_022776 AAH10422;AAH65213;AAK31141;AAL40667;AAL55851;ACE86643;ACE87325;ADZ15899;BAB14391;BAB14477;BAF85391;EAW79389;NP_073613;Q9BXB4 Hs.477440 1682495;1688901;1699504;5024039;5037552 D16S325;D8S2279;RH103346;RH75514;RH94277 FLJ13012;FLJ13164;ORP-11;ORP11;OSBP12;TCCCIA00292 OSBP-related protein 11;OTTHUMP00000215865;oxysterol-binding protein-related protein 11 APPROVED protein-coding ENSG00000144909 HGNC:16397 09481 606739 REVIEWED 7246857 OSBPL9P4 oxysterol binding protein-like 9 pseudogene 4 12 12 12 q14.3 66621195 66627482 - 66957034 66963321 - 66563254 66569541 - 100498661 ABBA01026572;ABBA01026573;AC090710;AMYH02026683;NG_023269 pseudo HGNC:48734 INFERRED 7246196 OSBPL9P6 oxysterol binding protein-like 9 pseudogene 6 7 7 30928865 30930462 + 30889250 30890847 + 100533673 ABBA01056814;AC004691;AMYH02015460;NG_028678 pseudo HGNC:48736 INFERRED 1606165 OSCP1 organic solute carrier partner 1 INVOLVED IN transport (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH atrazine; ethyl methanesulfonate; formaldehyde 1 1 1 p34.3 35159276 35191869 - 36883507 36916086 - 36417906 36450485 - 6480464 12477932;12819961;14702039;15146197;15489334;16006562;16344560;18237537;19727524;20379614;21441570;21803736;23831407;8889548 127700 C9JF58;H0YAG0;H0YDT3;H7C0S2;Q8WVF1 AA505729;AB079075;ABBA01023295;ABBA01023296;AC119675;AF086535;AF462348;AK098541;AMYH02000788;AW136490;AW471215;BC018069;BF691288;BU854079;CA450619;CH471059;CN430132;DA297022;NM_145047;NM_206837;XM_005270461;XM_005270462;XM_005270463;XM_006710359 AAH18069;AAL89738;ABM86513;ABW03659;BAC05326;BAE16984;EAX07364;EAX07365;EAX07366;NP_659484;NP_996668;Q8WVF1;XP_005270518;XP_005270519;XP_005270520;XP_006710422 Hs.202207 C1orf102;MGC26685;NOR1;hOSCP1 OTTHUMP00000009841;OTTHUMP00000009843;OTTHUMP00000009844;OTTHUMP00000232884;OTTHUMP00000232885;organic solute carrier protein 1;organic solute transport protein 1;oxidored nitro domain containing protein;oxidored-nitro domain-containing protein 1 protein-coding ENSG00000116885 HGNC:29971 16393 608854 VALIDATED 1350756 OSER1 oxidative stress responsive serine-rich 1 INVOLVED IN cellular response to hydrogen peroxide (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 20 20 20 q13.11 39533733 39548030 - 42824579 42839702 - 44195939 44210982 - 6480464 11042152;11780052;12477932;14702039;15489334;17148688;17207965;21906983;21963094;21987572;24250222 51526 Q9NX31 ABBA01052634;AF151041;AF161517;AF217514;AK000476;AK315155;AL035447;AL133000;AMYH02037125;AMYH02037126;AX405943;BC064973;BF109349;BI462161;CH471077;NM_016470;XM_005260424;XM_005260425;XM_006723803 AAF29132;AAF36127;AAF67625;AAH64973;ADQ32565;BAA91191;BAG37601;CAB61348;CAD35050;EAW75938;EAW75939;NP_057554;Q9NX31;XP_005260481;XP_005260482;XP_006723866 Hs.75798 1659227;1683976;1772952;1784406;1853241;2178264 A002H21;RH46378;RH66088;RH75722;SHGC-32941;WI-12515 C20orf111;HSPC207;Osr1;Perit1;dJ1183I21.1 OTTHUMP00000031041;OTTHUMP00000031042;oxidative stress responsive 1;oxidative stress-responsive 1;oxidative stress-responsive protein 1;oxidative stress-responsive serine-rich protein 1;peroxide-inducible transcript 1;uncharacterized protein C20orf111 APPROVED protein-coding ENSG00000132823 HGNC:16105 12739 VALIDATED 1603587 OSCAR osteoclast associated, immunoglobulin-like receptor Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex protein family that plays critical roles in the regulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] 19 19 19 q13.42 51637613 51643830 - 54597933 54604159 - 54094668 54102686 - 6480464 11805147;1185147;12477932;14702039;15085135;15155468;15650060;15905516;16007331;16109714;16493074;18821671;19453261;20237496;21172874;21841309;22009730;22949349;22985931;23006423;24448348 126014 A8MWV3;Q8IYS5 ABBA01068175;ABBA01068176;AC012314;AC245052;AF251702;AF391162;AF391163;AF391164;AF474152;AF474153;AK091111;AK130199;AK311307;BC035023;BG722509;CH471135;NM_001282349;NM_001282350;NM_130771;NM_133168;NM_133169;NM_206818 AAH35023;AAL68495;AAL68496;AAL68497;AAM19095;AAQ05766;AAQ05767;ABM84623;ABM85659;BAC03586;EAW72174;EAW72175;EAW72176;EAW72177;EAW72178;NP_001269278;NP_001269279;NP_570127;NP_573398;NP_573399;NP_996554;Q8IYS5 Hs.347655 1749737;1803394;1831508;1832166;1844454;2040938;2040940;2040942;2040944;2040946;2040948;2040950;2040952;2040954;2040956;2040958;2040960;2040962;2040964;2040966;2040968;2040970;2040972;2040974;2040976;2040978;2040980;2040982;2040984;2040986;2040988;2040990;2040992;2040994;2040996;2040998;2041000;2041002;2041004;2041006;2103554;2103556;2103558;2161833;5014053 D1S3693;D9S923;ECD02594;ECD16891;ECD17221;ECD23441;REN91503;REN91504;REN91505;REN91506;REN91507;REN91508;REN91509;REN91510;REN91511;REN91512;REN91513;REN91514;REN91515;REN91516;REN91517;REN91518;REN91519;REN91520;REN91521;REN91522;REN91523;REN91524;REN91525;REN91526;REN91527;REN91528;REN91529;REN91530;REN91531;REN91532;REN91533;REN91534;REN91535;REN91536;REN91537;SHGC-111407;stSG605779;stSG605784;stSG605786 MGC33613;PIGR3;PIgR-3 OTTHUMP00000067447;OTTHUMP00000067448;OTTHUMP00000067450;OTTHUMP00000067451;OTTHUMP00000067452;OTTHUMP00000067460;OTTHUMP00000081759;hOSCAR;osteoclast associated receptor OSCAR-S1;osteoclast associated receptor OSCAR-S2;osteoclast-associated immunoglobulin-like receptor;osteoclast-associated receptor;poly-Ig receptor 3;polymeric immunoglobulin receptor 3 APPROVED protein-coding ENSG00000170909 HGNC:29960 06035 606862 REVIEWED 7242851 OSGEPL1-AS1 OSGEPL1 antisense RNA 1 2 2 q32.2 190627506 190630282 + 189762780 189765556 + 16344560 101409258 ABBA01062380;AC013468;AMYH02005429;BF695378;BX474356;DB142079;NR_102429 Hs.738558 5024756 RH80030 ncrna HGNC:41009 VALIDATED 1607033 OSGIN1 oxidative stress induced growth inhibitor 1 This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011] 16 16 16 q23.3 68283632 68302337 + 83982594 83999937 + 83953222 83966332 + 6480464;8554872 11459809;12374686;12477932;14570898;15489334;15569677;16924236;17192422;18499678;18597759;19578798;19851296;20198315;20307321;21737788;21906983;22912861;24417816;8889548 29948 H3BT09;H3BTF9;J3KRK7;Q9UJX0 ABBA01016928;ABBA01016929;AC040169;AF191740;AF334780;AK290383;AMYH02032556;AY037158;AY258066;AY258067;AY258068;BC020434;BC032476;BC093687;BC113417;BM976366;CH471114;HI573984;HI573986;HI573988;NG_029757;NM_182981 AAF06662;AAH32476;AAH93687;AAI13418;AAK01722;AAK67637;AAP14662;AAP14663;AAP14664;ADR83187;BAF83072;CBX47481;CBX47482;CBX47483;EAW95511;EAW95512;NP_892026;Q9UJX0 Hs.128055 1660734;1783364 SHGC-147839;WI-15020 BDGI;OKL38 OTTHUMP00000174992;OTTHUMP00000174993;bone marrow stromal cell-derived growth inhibitor;huOKL38;ovary, kidney and liver protein 38;oxidative stress-induced growth inhibitor 1;pregnancy induced growth inhibitor;pregnancy-induced growth inhibitor OKL38 APPROVED protein-coding ENSG00000140961 HGNC:30093 06412 607975 REVIEWED 1344213 OSIL oxidative stress induced like 1580863 8650207 54211 Q13502 U46752 HGNC:8505 731675 OSBPL1A oxysterol binding protein-like 1A This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008] 18 18 18 q11.1 18558319 18792861 - 21742009 21977846 - 24162045 24397882 - 1580863;6480464;8554872 10588946;11279184;11483621;11735225;12477932;12631712;14702039;16147992;16176980;17081983;17428193;18029348;18369178;18464913;19056867;19564404;20379614;20548944;20690035;21906983;22728266;23383108;23402259;24025716;24816145 114876 B0YJ56;B3KU11;E7ER58;J3KRT6;J3KSG6;J3KTA6;J3QLA2;J3QS61;J3QSB8;Q6GSK5;Q9BXW6 ABBA01022612;ABBA01022613;ABBA01022614;ABBA01022615;ABBA01022616;ABBA01022617;ABBA01022618;ABBA01022619;AC023983;AC090772;AF274714;AF323726;AF392449;AF392450;AK001079;AK021898;AK096358;AK292895;AK301862;AK314552;AMYH02034430;AMYH02034431;AMYH02034432;AMYH02034433;AMYH02034434;BC007004;BC022293;BC041563;BC063420;BC073854;BC098384;BC136452;BC144117;BX647893;CH471088;EF445004;NG_029432;NM_001242508;NM_018030;NM_080597;XM_006722380;XM_006722381;XM_006722382;XM_006722383 AAG53407;AAH07004;AAH41563;AAH63420;AAH73854;AAH98384;AAI36453;AAI44118;AAK15154;AAL40662;AAL40663;ACA06034;ACA06035;BAF85584;BAG37138;BAG53273;BAH13569;EAX01180;EAX01181;EAX01182;EAX01183;NP_001229437;NP_060500;NP_542164;Q9BXW6;XP_006722443;XP_006722444;XP_006722445;XP_006722446 Hs.370725 1686843;1691208;1752851;1762301;1762433;1774062;1779546;1856053;2144479;2154327;5015861;5016478;5020635;5037552;5108080;5109281;5109663;7185938 D10S16;D1S1425;D7S2067E;D7S3207;D8S2279;GDB:434012;RH15637;RH66753;RH81016;RH94026;SGC33172;SHGC-106708;SHGC-146149;SHGC-146258;SHGC-153521;STS-AA017150;UniSTS:43101 FLJ10217;ORP-1;ORP1;OSBPL1B OSBP-related protein 1;OTTHUMP00000162780;OTTHUMP00000162781;oxysterol binding protein-like 1B;oxysterol-binding protein-related protein 1;oxysterol-binding protein-related protein 1 variant 1;oxysterol-binding protein-related protein 1 variant 2 APPROVED protein-coding ENSG00000141447 HGNC:16398 09472 606730 REVIEWED 1313685 OSGEPL1 O-sialoglycoprotein endopeptidase-like 1 ENCODES a protein that exhibits metal ion binding (inferred); transferase activity, transferring acyl groups other than amino-acyl groups (inferred); INVOLVED IN threonylcarbamoyladenosine biosynthetic process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenous acid; cyclosporin A 2 2 2 q32.2 184206295 184222840 - 190611386 190628020 - 189746660 189763241 - 1580863;6480464 12477932;14702039;19460752;19578062;20877624 64172 E5RGZ1;E5RIL9;E7EVL7;Q9H4B0 ABBA01062380;AC013468;AJ295148;AK055441;AK294841;AK314565;AMYH02005429;BC011904;CH471058;HB913291;HB930734;HB947813;HC970700;HC988143;HD005223;NM_022353;XM_005246763;XM_005246764;XM_005246765;XM_005246766;XM_006712685;XM_006712686 AAH11904;AAY14771;ABM83973;ABM87290;BAB70923;BAG57948;CAC14666;CBF91713;CBG00264;CBG08622;CBV05233;CBV13784;CBV22144;EAX10890;EAX10891;NP_071748;Q9H4B0;XP_005246820;XP_005246821;XP_005246822;XP_005246823;XP_006712748;XP_006712749 Hs.60772 1685864;1856971 RH11855;RH92442 Qri7 N6-L-threonylcarbamoyladenine synthase;O-sialoglycoprotein endopeptidase like 1;O-sialoglycoprotein endopeptidase-like protein 1;OTTHUMP00000225883;OTTHUMP00000225884;OTTHUMP00000225885;probable O-sialoglycoprotein endopeptidase 2;probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial;probable tRNA threonylcarbamoyladenosine biosynthesis protein OSGEPL1;putative sialoglycoprotease type 2;t(6)A synthase;t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEPL1;tRNA threonylcarbamoyladenosine biosynthesis protein OSGEPL1 protein-coding ENSG00000128694 HGNC:23075 07026 VALIDATED 7255666 OSER1-AS1 OSER1 antisense RNA 1 (head to head) 20 20 42839600 42854667 + 44210960 44226027 + 12477932;14702039;20125193 100505783 ABBA01052634;AK055067;AL035447;AL035462;AMYH02037126;AMYH02037127;BC019858;BC032458;BC036500;BC048277;BC067866;BC094781;BI917173;BX459928;HG511372;HG511373;HG511374;HG511375;KF456919;NR_038337;NR_038338;NR_038339 Hs.159049 RP5-995J12.2 ncrna ENSG00000223891 HGNC:48585 VALIDATED 8551916 OSMR-AS1 OSMR antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 5 5 q15 38692959 38845920 - 38693213 38845829 - 8554872 16344560 101929768 ABBA01024202;ABBA01024203;AC010425;AC026713;AC091435;AMYH02011195;CK818872;DA342801;DB095186;HG497901;NR_109951 Hs.546623;Hs.570953;Hs.582364 CTD-2127H9.1 ncrna HGNC:50296 VALIDATED 69134 OSM oncostatin M Oncostatin M is a member of a cytokine family that includes leukemia-inhibitory factor, granulocyte colony-stimulating factor, and interleukin 6. This gene encodes a growth regulator which inhibits the proliferation of a number of tumor cell lines. It regulates cytokine production, including IL-6, G-CSF and GM-CSF from endothelial cells. [provided by RefSeq, Jul 2008] 22 22 22 q12.2 14458501 14462523 - 30658817 30662829 - 30262828 30266840 - 1580863;6480464;6484113;6907045;8554872 10556323;10591208;10997905;11711546;11777927;11811789;11818668;11839742;11936950;12061840;12061841;12090757;12138373;12218157;12391243;12477932;12531804;12640208;12692260;12707269;15146412;1536831;1542793;1542794;15461802;15489334;15712220;15809742;15831292;15837947;15863389;16051226;16369169;16713283;16802343;17009243;17028186;17081797;1717982;17372020;17471233;17604327;17761945;17881458;17979974;18028996;18187666;18317962;18398932;18499891;18564531;18637848;18772145;18981157;19019853;19086053;19148539;19158240;19158344;19342253;19565514;19652200;19913121;19916861;20088942;20101226;20149034;20189410;20237496;2026606;20408777;20626292;20628086;20650266;20661773;21196532;21376322;21399633;21399864;21457934;21481226;21775705;21832049;21900206;21965736;21975934;22051730;22056139;22082156;22267310;22267707;22829597;22931588;22982441;23128233;2325640;23313749;23584474;23621172;23735324;23867565;24297795;24600984;2779549;3540948;7508917;7867561;8406444;8422753;8999038;9847074;9920829 5008 B5MC70;B5MCX1;P13725 AB451493;ABBA01055293;AC004264;AF129855;AMYH02038214;BC011589;CH471095;CR456534;CR541703;M27286;M27287;M27288;NM_020530;XM_005261623 AAA36388;AAC05173;AAD31435;AAH11589;ABM83463;ABM86674;BAG70307;CAG30420;CAG46504;CAK54565;CAK54864;EAW59864;EAW59865;NP_065391;P13725;XP_005261680 Hs.248156 1742273;1742275;1744387;2162955 GDB:194718;GDB:194719;GDB:452636;STS-M27288 MGC20461 OTTHUMP00000198700;oncostatin-M APPROVED protein-coding ENSG00000099985 HGNC:8506 01300 165095 REVIEWED 1605876 OSR1 odd-skipped related transciption factor 1 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN positive regulation of gastrulation; pronephros development; cell differentiation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; INTERACTS WITH acetylsalicylic acid; aflatoxin B1; arsane 2 2 2 p24.1 19413711 19420835 - 19551246 19558372 - 19351485 19358611 - 6480464;8554872 11076863;11256614;12119563;12205091;12477932;14702039;15084514;15489334;15489336;15761153;15815621;16381901;16511565;18029348;18978678;20800603;2120051;21321328;21821672;21906983;24191005;24555568 130497 Q8TAX0 AB082568;ABBA01018493;AC018741;AI391506;AK074591;AK122756;AMYH02003361;BC025712;CH471053;CQ782558;DQ021502;NM_145260;XM_006711942 AAH25712;AAY14760;AAY26397;BAB92079;BAC11079;BAG53709;CAF85834;CAL38246;EAX00846;EAX00847;EAX00848;NP_660303;Q8TAX0;XP_006712005 Hs.123933 ODD OTTHUMP00000112434;odd-skipped homolog;odd-skipped related 1;protein odd-skipped-related 1 APPROVED protein-coding ENSG00000143867 HGNC:8111 16401 608891 VALIDATED 1352311 OSMR oncostatin M receptor This gene encodes a member of the type I cytokine receptor family. The encoded protein heterodimerizes with interleukin 6 signal transducer to form the type II oncostatin M receptor and with interleukin 31 receptor A to form the interleukin 31 receptor, and thus transduces oncostatin M and interleukin 31 induced signaling events. Mutations in this gene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] 5 5 5 p13.1 38732864 38822240 + 38845960 38935743 + 38845858 38935641 + 1580863;6480464;6907045;7240710;8554872;8699517 10586060;10997905;11602599;11706938;11786531;11821958;12061840;12477932;15184896;15342556;15489334;15831292;17028186;18179886;18430728;18641356;19158344;19223499;19375894;19466957;19662090;19690585;19834535;20205591;20424473;20507362;20628624;21139048;21145461;21394648;21508378;21890473;21900206;21906983;21952923;21963094;22062952;22137028;22829597;23000965;23251661;23765377;24219225;8999038;9188471;9617575;9662460 9180 H0Y8W9;H0Y9E3;H0YAD1;Q99650 ABBA01024203;ABBA01024204;AC026713;AI417125;AK304016;AMYH02011195;AMYH02011196;BC010943;BC063468;BC125209;BC125210;BP352496;BU619548;CA439576;CB265977;CH471119;CS398420;CS399454;CS401263;CS720092;DR006275;FB507084;GM989506;GN088764;HC731059;HH829739;JC449296;NG_016236;NM_001168355;NM_003999;U60805;XM_005248384;XM_005248385;XM_005248386;XM_005248387;XM_006714509 AAC50946;AAH10943;AAH63468;AAI25210;AAI25211;BAG64931;CAL44879;CAL44943;CAL44954;CAP40197;CAV32861;CAX21680;CAX87006;CBL94055;CBX32719;CDM63726;EAW55976;EAW55977;NP_001161827;NP_003990;Q99650;XP_005248441;XP_005248442;XP_005248443;XP_005248444;XP_006714572 Hs.120658;Hs.658389 1717243;1796436;1853359;2119307;5015861;5023329;7185938 D10S16;D5S2638;GDB:314481;OSMR_218;RH122036;RH15616 MGC150626;MGC150627;MGC75127;OSMRB;PLCA1 IL-31 receptor subunit beta;IL-31R subunit beta;IL-31R-beta;IL-31RB;OTTHUMP00000116027;OTTHUMP00000221132;interleukin-31 receptor subunit beta;oncostatin-M specific receptor beta subunit;oncostatin-M-specific receptor subunit beta APPROVED protein-coding ENSG00000145623 HGNC:8507 03446 105250;601743 REVIEWED 1604506 OSTCP1 oligosaccharyltransferase complex subunit pseudogene 1 INTERACTS WITH atrazine; copper(2+) sulfate 6 6 6 q25.3 159910021 159926537 - 159262149 159278664 - 158841117 158857632 - 6480464 12477932;17207965;21832049 202459 Q8TBU1 ABBA01021078;AL589931;AL627422;AMYH02014858;BC024224;CH236958;NR_028496 AAH24224;ADQ32254 Hs.487035 DC2L;OSTCL APPROVED pseudo ENSG00000243775 HGNC:30530 14130 VALIDATED 1607011 OSTC oligosaccharyltransferase complex subunit (non-catalytic) ENCODES a protein that exhibits dolichyl-diphosphooligosaccharide-protein glycotransferase activity (inferred); INVOLVED IN protein N-linked glycosylation via asparagine (inferred); FOUND IN oligosaccharyltransferase complex; INTERACTS WITH arsenous acid; copper(2+) sulfate; cyclosporin A 4 4 4 q25 106866726 106884005 + 109571741 109588978 + 108650585 108667822 + 6480464 12477932;15146197;15835887;16712791;20332099;21139048;21906983;21963094;22645275;24250222;24457600 58505 Q9NRP0 ABBA01063766;AC107071;AF068297;AF161425;AF201937;AF343342;AK312185;AMYH02009884;AMYH02009885;AW081061;AX013128;BC016321;BC054857;BM471860;BM541430;BM546028;BM994257;BQ435510;CB110420;CD369095;CH471057;CN430159;CS488901;NM_001267817;NM_001267818;NM_021227 AAF28985;AAF65186;AAF86873;AAH16321;AAH54857;AAK69656;ABM84148;ABM87550;BAG35118;CAM55975;EAX06233;EAX06234;NP_001254746;NP_001254747;NP_067050;Q9NRP0 Hs.445803 DC2 OTTHUMP00000219604;OTTHUMP00000219605;hydrophobic protein HSF-28;oligosaccharyltransferase complex subunit OSTC APPROVED protein-coding ENSG00000198856 HGNC:24448 13120 VALIDATED 5490503 OSTCP3 oligosaccharyltransferase complex subunit pseudogene 3 19 19 19 q13.42 51156195 51161818 + 54120058 54120506 + 53616804 53617252 + 646557 ABBA01068207;AC011487;AMYH02036429;NG_030060 1654721 D19S1058 pseudo HGNC:42865 INFERRED 5490506 OSTCP4 oligosaccharyltransferase complex subunit pseudogene 4 4 4 4 q25 110896833 110900035 + 113606211 113606656 + 112685055 112685500 + 645264 ABBA01063819;AC106864;AMYH02009938;NG_030224 2173771 SHGC-23923 pseudo HGNC:42866 INFERRED 6480978 OSTCP5 oligosaccharyltransferase complex subunit pseudogene 5 1 1 45535652 45536101 - 45069980 45070429 - 100874386 ABBA01050893;AL359473;AMYH02000923;NG_032532 pseudo HGNC:42867 INFERRED 1345615 OSR2 odd-skipped related transciption factor 2 OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008] 8 8 8 q22.2 96142339 96150050 + 99956631 99964338 + 98944403 98952110 + 737633;1580863;6480464 12477932 11520675;14702039;15175245;15489334;15670784;19322201;20634891 116039 E5RGY8;E5RH04;E5RH47;Q8N2R0 ABBA01037546;AC016877;AK074518;AK291491;AK304654;AK310994;AMYH02018486;AY038072;AY038073;BC016936;BX101198;CH471060;NM_001142462;NM_001286841;NM_053001;XM_005250778;XM_005250779;XM_006716504;XM_006716505 AAH16936;AAK74066;AAK74067;BAC11035;BAF84180;BAG65429;EAW91784;EAW91785;NP_001135934;NP_001273770;NP_443727;Q8N2R0;XP_005250835;XP_005250836;XP_006716567;XP_006716568 Hs.253247 FLJ90037 OTTHUMP00000227091;OTTHUMP00000227092;OTTHUMP00000227093;odd-skipped related 2;protein odd-skipped-related 2 APPROVED protein-coding ENSG00000164920 HGNC:15830 17806 611297 VALIDATED 6480976 OSTCP6 oligosaccharyltransferase complex subunit pseudogene 6 6 6 56840405 56840861 - 56975607 56976063 - 100874387 ABBA01050488;AL590037;AMYH02013783;NG_032533 pseudo HGNC:42868 INFERRED 1318432 OSGEP O-sialoglycoprotein endopeptidase ENCODES a protein that exhibits metal ion binding (inferred); transferase activity, transferring acyl groups other than amino-acyl groups (inferred); INVOLVED IN threonylcarbamoyladenosine biosynthetic process (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; copper(2+) sulfate 14 14 14 q11.2 776357 784417 - 20915207 20923267 - 20447048 20455108 - 1580863;6480464 10859271;11418125;11641609;12039036;12477932;14702039;15489334;16344560;17353931;20010699;21139048;21875946;21900206;22863883;22912744;23455922;24816145;8619474;9092683;9110174 55644 G3V249;G3V282;G3V425;G3V445;G3V4G4;G3V4G5;Q9NPF4 AB047823;AB050442;ABBA01061228;ABBA01061229;ABBA01061230;AF052137;AJ271669;AK000418;AK054823;AK055492;AL355075;AMYH02028824;BC032310;BX428958;CD365329;CH471078;CR457232;DA068526;NM_017807 AAH32310;ABM85732;ABW03728;BAA91150;BAB33147;BAB33172;CAB71031;CAG33513;EAW66469;EAW66470;NP_060277;Q9NPF4 Hs.525196 1678981;1744369;1757161;1771034;1783072 GDB:451907;RH78615;RH79816;SHGC-144588;SHGC-154059 FLJ20411;GCPL1;KAE1;OSGEP1;PRSMG1 N6-L-threonylcarbamoyladenine synthase;OTTHUMP00000028258;OTTHUMP00000244786;hOSGEP;probable O-sialoglycoprotein endopeptidase;probable tRNA N6-adenosine threonylcarbamoyltransferase;probable tRNA threonylcarbamoyladenosine biosynthesis protein OSGEP;t(6)A synthase;t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEP;tRNA threonylcarbamoyladenosine biosynthesis protein OSGEP protein-coding ENSG00000092094 HGNC:18028 10133 610107 VALIDATED 6480984 OSTCP7 oligosaccharyltransferase complex subunit pseudogene 7 17 17 33332319 33332760 + 35005300 35005741 + 100874391 ABBA01011223;AC004223;AMYH02033340;NG_032535 pseudo HGNC:42870 INFERRED 6480977 OSTCP8 oligosaccharyltransferase complex subunit pseudogene 8 9 9 33968075 33968515 - 33968077 33968517 - 100874388 ABBA01065033;AL139113;AMYH02019431;NG_032534 pseudo HGNC:42869 INFERRED 1348431 OSTF1P1 osteoclast stimulating factor 1 pseudogene 1 12 12 12 q24.1-q24.2 114653450 114654198 + 115025856 115026604 + 114588051 114588799 + 386654 ABBA01019975;AC069240;AMYH02027255;NG_003109 OSTF1P APPROVED pseudo HGNC:31439 INFERRED 733236 OSTF1 osteoclast stimulating factor 1 Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by OMIM, Mar 2008] 9 9 9 q13-q21.2 48280889 48339602 + 77703398 77762114 + 75088482 75148137 + 1580863;6480464;8554872 10092216;10773673;11551898;12477932;15135048;15164053;15342556;15489334;16508112;16946461;16964398;17081983;17207965;17353931;17500595;19137598;19322201;19453261;19807924;20424473;21139048;21501342;21832049;21890473;21900206;22505724;22745667;22939629;23000965;23275563;24250222;8125298;9630982 26578 Q92882 ABBA01033893;AK222596;AK291511;AL133548;AMYH02021010;AMYH02021011;AMYH02021012;BC007459;BP312980;CH471089;NM_012383;U63717;XM_006717053;XM_006717054;XM_006717055 AAB06396;AAH07459;ADQ32843;BAD96316;BAF84200;EAW62570;EAW62571;EAW62572;EAW62573;NP_036515;Q92882;XP_006717116;XP_006717117;XP_006717118 Hs.494192 1646277;1687952;2131021 RH16319;RH93283;SGC35040 FLJ20559;OSF;SH3P2;bA235O14.1 OTTHUMP00000021492;osteoclast-stimulating factor 1 APPROVED protein-coding ENSG00000134996 HGNC:8510 17808 610180 VALIDATED 5490457 OSTCP2 oligosaccharyltransferase complex subunit pseudogene 2 1 1 1 p36.11 25709474 25709929 - 27312339 27312834 - 26985848 26986343 - 646567 ABBA01034943;AL356390;AMYH02000583;XM_001722136;XM_003960119;XM_929503 XP_001722188;XP_003960168;XP_934596 oligosaccharyltransferase complex subunit OSTC-like protein-coding HGNC:42864 MODEL 1345018 OSTM1 osteopetrosis associated transmembrane protein 1 This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008] 6 6 6 q21 109109095 109142438 - 108362613 108395941 - 108041409 108074737 - 6480464;7240710;8554872;8699517 11042152;12079282;12477932;12627228;12826607;12975309;14702039;15108279;15177004;15489334;16303743;16525474;17922613;17985267;18296023;18978678;19322201;19453261;19507210;21527911;21906983;21963094;21987572;22505724;22990118;23685543;23983121 28962 Q86WC4 AA428166;ABBA01026157;AF077205;AF533891;AJ420489;AJ420572;AK075012;AK129854;AK314393;AMYH02014262;AMYH02014263;AV715475;AY358795;BC010845;BC016376;BC059412;BC068581;BE218267;BI668275;BK000461;BQ716123;CH471051;NG_007262;NM_014028;XM_006715464;Z98200 AAD27000;AAH68581;AAO72749;AAQ89155;BAC11351;DAA00039;EAW48389;EAW48390;EAW48391;NP_054747;Q86WC4;XP_006715527 Hs.226780;Hs.706947;Hs.745455 1668176;1671488;1800480;1801896;1804812;1807324;1813582;1814594;1817190;1817718;1818202;1818342;1818850;1822768;1824142;1827018;1829104;1832190;1832372;1833010;1833896;1834084;1834854;1835180;1835828;1835830;1836116;1837168;1837326;1840296;1842436;1844072;1844420;1846220;1956644;1956646;1956648;1956650;1956652;1956654;1956656;1956658;1956660;1956662;1956664;1956666;1956668;1956670;1956672;1956674;1956676;1956678;1956680;1956682;1956684;1956686;1956688;1956690;1956692;1956694;1956696;1956698;1956700;1956702;1956704;1956706;1956708;1956710;1956712;1956714;1956716;1956718;1956720;1956722;1956724;1956726;1956728;1956730;1956732;1956734;1956736;1956738;1956740;1956742;1956744;1956746;1956748;1956750;1956752;1956754;1956756;1956758;1956760;1956762;1956764;1956766;1956768;1956770;1956772;1956774;1956776;1956778;1956780;1956782;1956784;1956786;1956788;1956790;1956792;1956794;1956796;1956798;1956800;1956802;1956804;1956806;1956808;1956810;1956812;1956814;1956816;1956818;1956820;1956822;1956824;1956826;1956828;1956830;1956832;1956834;1956836;1956838;1956840;1956842;1956844;1956846;1956848;1956850;1956852;1956854;1956856;1956858;1956860;1956862;1956864;1956866;1956868;1956870;1956872;1956874;1956876;1956878;1956880;1956882;1956884;1956886;1956888;1956890;1956892;1956894;1956896;1956898;1956900;1956902;1956904;1956906;1956908;1956910;1956912;1956914;1956916;1956918;1956920;1956922;1956924;1956926;1956928;1956930;1956932;1956934;1956936;1956938;1956940;1956942;1956944;2164702;2167859;2184761;2212716;2212718;2212720;2212722;2212724;2212726;2212728;2212730;2212732;2212734;2212736;2212738;2212740;2212742;2212744;2212746;2212748;2212750;2212752;2212754;2212756;2212758;2212760;2212762;2212764;2212766;2212768;2219418 D6S1113E;ECD01100;ECD01829;ECD03339;ECD04633;ECD07814;ECD08327;ECD09645;ECD09912;ECD10158;ECD10228;ECD10489;ECD12472;ECD13167;ECD14624;ECD15679;ECD17233;ECD17325;ECD17646;ECD18094;ECD18190;ECD18576;ECD18745;ECD19075;ECD19076;ECD19219;ECD19750;ECD19830;ECD21333;ECD22421;ECD23249;ECD23424;ECD24330;OSTM1__5795;REN49189;REN49190;REN49191;REN49192;REN49193;REN49194;REN49195;REN49196;REN49197;REN49198;REN49199;REN49200;REN49201;REN49202;REN49203;REN49204;REN49205;REN49206;REN49207;REN49208;REN49209;REN49210;REN49211;REN49212;REN49213;REN49214;REN49215;REN49216;REN49217;REN49218;REN49219;REN49220;REN49221;REN49222;REN49223;REN49224;REN49225;REN49226;REN49227;REN49228;REN49229;REN49230;REN49231;REN49232;REN49233;REN49234;REN49235;REN49236;REN49237;REN49238;REN49239;REN49240;REN49241;REN49242;REN49243;REN49244;REN49245;REN49246;REN49247;REN49248;REN49249;REN49250;REN49251;REN49252;REN49253;REN49254;REN49255;REN49256;REN49257;REN49258;REN49259;REN49260;REN49261;REN49262;REN49263;REN49264;REN49265;REN49266;REN49267;REN49268;REN49269;REN49270;REN49271;REN49272;REN49273;REN49274;REN49275;REN49276;REN49277;REN49278;REN49279;REN49280;REN49281;REN49282;REN49283;REN49284;REN49285;REN49286;REN49287;REN49288;REN49289;REN49290;REN49291;REN49292;REN49293;REN49294;REN49295;REN49296;REN49297;REN49298;REN49299;REN49300;REN49301;REN49302;REN49303;REN49304;REN49305;REN49306;REN49307;REN49308;REN49309;REN49310;REN49311;REN49312;REN49313;REN49314;REN49315;REN49316;REN49317;REN49318;REN49319;REN49320;REN49321;REN49322;REN49323;REN49324;REN49325;REN49326;REN49327;REN49328;REN49329;REN49330;REN49331;REN49332;REN49333;REN49334;REN49335;REN49336;REN49337;REN49338;REN49339;RH47843;RH48152;STS-H01923;WIAF-2219;stSG634077;stSG634078;stSG634079;stSG634080;stSG634081;stSG634082;stSG634083;stSG634084;stSG634085;stSG634086;stSG634087;stSG634088;stSG634089;stSG634090;stSG634091;stSG634092;stSG634093;stSG634094;stSG634095;stSG634096;stSG634097;stSG634098;stSG634099;stSG634100;stSG634102;stSG634103;stSG634104 GIPN;GL;HSPC019;OPTB5 CLCN7 accessory beta subunit;GAIP-interacting protein N terminus;OTTHUMP00000016938;OTTHUMP00000196342;chloride channel 7 beta subunit;grey-lethal osteopetrosis;osteopetrosis-associated transmembrane protein 1 APPROVED protein-coding ENSG00000081087 HGNC:21652 09628 259720;607649 REVIEWED 1348640 OTOA otoancorin The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 16 16 16 p12.2 21371583 21424019 + 21689835 21772050 + 21678514 21760729 + 1580863;6480464;7240710;8554872;8699517 11972037;12477932;14702039;19088187;19888295;20301607;20379614;23173898 146183 Q05BM7;Q7RTW8 ABBA01008649;ABBA01008650;AC092719;AC241409;AK093062;AK125840;AK302733;BC038458;BC040551;BC129992;BC129993;BK000099;CH878403;NG_012973;NM_001161683;NM_144672;NM_170664 AAH38458;AAI29993;AAI29994;BAC04040;BAG54255;BAG63950;DAA00022;EAW50524;EAW50525;NP_001155155;NP_653273;NP_733764;Q7RTW8 Hs.408336 1718093;1729540;1738509;1757113;2123219;5037552 D16S2697;D16S293;D16S2993;D8S2279;G57755;SHGC-144498 CT108;DFNB22;FLJ32773;MGC157747;MGC39813 OTTHUMP00000115896;OTTHUMP00000115897;cancer/testis antigen 108 APPROVED protein-coding ENSG00000155719 HGNC:16378 06126 607038;607039 REVIEWED 1342782 OSTN osteocrin ENCODES a protein that exhibits hormone activity (inferred); INVOLVED IN cell differentiation (inferred); cell surface receptor signaling pathway (inferred); endochondral bone growth (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH cadmium atom; dimethyl sulfoxide; troglitazone 3 3 3 q28 189359164 189396700 + 190917039 190983404 + 191199250 191263338 + 1304017;6480464;8554872 14523025 12477932;15044443;17950246;17951249;19453261 344901 C9JER6;P61366 ABBA01058318;ABBA01058319;AC126567;AMYH02008414;AMYH02008415;AY398681;AY573933;BC128106;BC128107;CH471052;NM_198184;XM_005247428 AAI28107;AAI28108;AAQ94966;AAS87599;EAW78095;NP_937827;P61366;XP_005247485 Hs.526794 MUSCLIN;OTTHUMP00000209347 protein-coding ENSG00000188729 HGNC:29961 17809 610280 PROVISIONAL 1344284 OTOF otoferlin Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p23.1 26523620 26625188 - 26680071 26781566 - 26457203 26558698 - 1580863;6480464;7240710;8547672;8554872;9491387;9479154;8699517;9585724;9479153;9479156;737640;9479157;9491752;9491826;9491386;9479161 10192385;10903124;12114484;14635104;16097006;17055430;17376979;17967520;20230791;22575033;22715884;22906306 10843812;10878664;12127154;12469219;12525542;14563843;16371502;18035737;18381613;19004828;19250381;19461658;19636622;20211493;20224275;20301429;20301607;20504331;21935370;22699663;22959777;23319000;23859474;24001616;24053799;24135434;24999532;8593615;8789454 9381 H7BZJ5;Q9HC10 ABBA01045182;ABBA01045183;ABBA01045184;AC093378;AC108070;AF107403;AF183185;AF183186;AF183187;AK296272;AMYH02003461;AMYH02003462;CH471053;EU436745;EU436746;NG_009937;NM_001287489;NM_004802;NM_194248;NM_194322;NM_194323;XM_005264644 AAD26117;AAG12991;AAG12992;AAG17468;AAI56052;AAI56939;AAY15083;ACC68677;ACC68678;BAG58982;EAX00682;EAX00683;EAX00684;EAX00685;EAX00686;EAX00687;NP_001274418;NP_004793;NP_919224;NP_919303;NP_919304;Q9HC10;XP_005264701 Hs.91608 1336205;1647945;1659391;1764743;1766117;2110631 D2S2350;OTOF_8929;RH12053;SHGC-14574;SHGC-148325;SHGC-149500 AUNB1;DFNB6;DFNB9;FER1L2;NSRD9 OTTHUMP00000122453;OTTHUMP00000122454;OTTHUMP00000122455;OTTHUMP00000200815;OTTHUMP00000200816;fer-1-like family member 2;fer-1-like protein 2;otoferlin transcript variant 46-48 APPROVED protein-coding ENSG00000115155 HGNC:8515 04727 601071;603681 REVIEWED 3418321 OST4 oligosaccharyltransferase 4 homolog (S. cerevisiae) FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH pentachlorophenol (ortholog); propiconazole (ortholog); toluene (ortholog) 2 2 2 p23.3 27139684 27140911 - 27293340 27294567 - 27070472 27071699 - 6480464 12477932;16317064;19913121;20628086;21609714;23606741 100128731 P0C6T2 AA772256;ABBA01045192;AC013403;AL049447;AMYH02003471;BC105283;BF697310;NM_001134693 NP_001128165;P0C6T2 Hs.502948 DKFZp586A0722 dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4 protein-coding ENSG00000228474 HGNC:32483 VALIDATED 1314879 OSGIN2 oxidative stress induced growth inhibitor family member 2 INVOLVED IN meiotic cell cycle (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; cyclosporin A; hydrogen peroxide 8 8 8 q21 87108907 87134906 + 90914096 90940096 + 89901868 89927868 + 6480464;8554872 12477932;15489334;16341674;19322201;21906983;24250222;8889548;9933573 734 E5RJZ3;Q9Y236 ABBA01037402;AF061326;AF069291;AF117829;AMYH02018392;AMYH02018393;BC031054;BM764021;BU688773;CH471060;NM_001126111;NM_004337 AAC62231;AAD18134;AAH31054;AAI56590;EAW91657;EAW91658;EAW91659;NP_001119583;NP_004328;Q9Y236 Hs.436445 1687247;1703700;1769905;1849879;2118050;2130663;5093242 A009K07;G32604;RH36135;RH91945;SHGC-31038;SHGC-78860;STS-N33005 C8orf1;hT41 OTTHUMP00000224993;OTTHUMP00000224994;OTTHUMP00000224995;chromosome 8 open reading frame 1;oxidative stress-induced growth inhibitor 2 protein-coding ENSG00000164823 HGNC:1355 06853 604598 VALIDATED 1603526 OTOGL otogelin-like The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] 12 12 12 q21.31 80269632 80438532 + 80583151 80772870 + 80189371 80379090 + 6480464;8699517;7240710;8554872 12477932;14702039;20379614;23122586 283310 H0YIF7;H0YIL4;H7BXL6;Q3ZCN5 ABBA01053497;ABBA01053498;AC078817;AC083812;AC092945;AK075060;AK096852;AMYH02026821;AMYH02026822;BC101016;BC101017;BC101018;CH471054;NG_033008;NM_173591;XM_005268802 AAI01018;AAI01019;BAC04877;BAC11376;EAW97362;EAW97363;NP_775862;Q3ZCN5;XP_005268859 Hs.723594 1708886;2131075 D12S1038;SHGC-83950 C12orf64;DFNB84B;FLJ90579;MGC119410 OTTHUMP00000242943;chromosome 12 open reading frame 64;otogelin-like protein APPROVED protein-coding ENSG00000165899 HGNC:26901 08815 614925;614944 REVIEWED 735811 OTOP1 otopetrin 1 INVOLVED IN biomineral tissue development (inferred); detection of gravity (inferred); inner ear morphogenesis (inferred); FOUND IN extracellular region (inferred); integral component of membrane (inferred); INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl (ortholog); benzo[a]pyrene (ortholog); C60 fullerene (ortholog) 4 4 4 p16.3 4088176 4126241 - 4190530 4228621 - 4188803 4226894 - 633435;6480464 12651873 12477932 133060 Q7RTM1 ABBA01008244;AC011744;AMYH02008640;BC130430;BC130432;BK000653;BK000654;CH471131;NM_177998 AAI30431;AAI30433;DAA00901;DAA00902;EAW82445;EAW82446;NP_819056;Q7RTM1 Hs.534544 2148424 G01775 MGC163302;MGC163304 OTTHUMP00000115348;otopetrin-1 protein-coding ENSG00000163982 HGNC:19656 07421 607806 PROVISIONAL 1312497 OTOP2 otopetrin 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH diazinon; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q25.1 69513596 69523231 + 72920370 72930006 + 74924275 74933911 + 633435;6480464;8554872 12651873 92736 Q7RTS6 ABBA01028821;ABBA01028822;AC068874;AC087651;AK000063;AMYH02033981;BK000567;CH471099;NG_033062;NM_178160 AAI48347;AAI52987;DAA00895;EAW89213;NP_835454;Q7RTS6 Hs.352515 1708192 SHGC-79351 otopetrin-2 protein-coding ENSG00000183034 HGNC:19657 07614 607827 VALIDATED 1315404 OTOP3 otopetrin 3 ENCODES a protein that exhibits metal ion binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); 2,6-dinitrotoluene (ortholog); benzo[a]pyrene (ortholog) 17 17 17 q25.1 69525122 69538736 + 72931897 72946087 + 74935802 74949992 + 633435;6480464 12651873 12477932;21697133 347741 J3QS90;Q7RTS5 AB593153;ABBA01028821;AC087651;AMYH02033981;BC143799;BK000568;CH471099;KF456318;NM_001272005;NM_178233 AAI40367;DAA00896;EAW89214;EAW89215;EAW89216;NP_001258934;NP_839947;Q7RTS5 Hs.454407 otopetrin-3 protein-coding ENSG00000182938 HGNC:19658 09700 607828 VALIDATED 1313174 OTOR otoraplin This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013] 20 20 20 p12.1-p11.23 16804076 16807889 + 16728998 16732809 + 16748353 16752164 + 1580863;6480464 10873378;10998416;11161796;11780052;12477932;12975309;15340161;15489334;20800603;23726511;7829101 56914 Q9NRC9 ABBA01054016;AF233261;AF243505;AJ242552;AJ252324;AL034428;AMYH02036757;AY359082;BC101688;BC101690;BI495573;CH471133;NM_020157;XM_005260762 AAF82078;AAG42356;AAI01689;AAI01691;AAQ89441;CAC27443;CAC28085;EAX10282;EAX10283;NP_064542;Q9NRC9;XP_005260819 Hs.41119 1854401;2146952 WI-16363;WI-16380 FDP;MGC126737;MGC126739;MIAL;MIAL1 OTTHUMP00000030323;fibrocyte-derived protein;melanoma inhibitory activity-like protein APPROVED protein-coding ENSG00000125879 HGNC:8517 07300 606067 REVIEWED 1349689 OTOS otospiralin Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008] 2 2 2 q37.3 234751484 234753111 - 241078446 241080073 - 240139029 240140656 - 6480464 11880501;12477932;12687421;15489334;15815621 150677 Q8NHW6 ABBA01048859;AC013469;AI201810;AMYH02006093;AY062256;BC105085;BC105087;BX118794;CH471063;NM_148961 AAI05086;AAI05088;AAL47489;AAY14739;EAW71179;NP_683764;Q8NHW6 Hs.148586 5493301 UniSTS:485639 OTOSP;OTTHUMP00000164499 APPROVED protein-coding ENSG00000178602 HGNC:22644 09714 607877 VALIDATED 4140314 OTOL1 otolin 1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN collagen trimer (inferred); extracellular region (inferred) 3 3 3 q26.1 159636912 159644046 + 161147389 161221740 + 161429601 161503952 + 8554872 11181995;15905077;16641997;17544811;20966902;21782286 131149 A6NHN0 ABBA01058787;AC104471;AC112491;AMYH02008032;CH471052;NM_001080440;XM_005247109 A6NHN0;EAW78611;NP_001073909;XP_005247166 Hs.585021 C1QTNF15 C1q and tumor necrosis factor related protein 15;OTTHUMP00000214013;otolin 1 homolog;otolin-1 APPROVED protein-coding ENSG00000182447 HGNC:34071 PROVISIONAL 1345021 OTP orthopedia homeobox This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq, Jul 2008] 5 5 5 q13.3 72812592 72829177 - 76924537 76934522 - 77628712 77638697 - 6480464 10458915;12477932;22366991;23444222 23440 Q5XKR4 ABBA01061981;ABBA01061982;ABBA01061983;AC108173;AMYH02011620;AMYH02011621;BC001800;CH471084;NM_032109 AAH01800;ABZ92225;EAW95809;NP_115485;Q5XKR4 Hs.202247 1683473;1697658 RH102344;RH98803 MGC3161 OTTHUMP00000128364;homeobox protein orthopedia;orthopedia homolog;orthopedia homolog (drosophila) APPROVED protein-coding HGNC:8518 05166 604529 REVIEWED 1315323 OTOG otogelin The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] 11 11 11 p15.1 17698900 17797429 + 17568920 17667491 + 17547373 17645944 + 6480464;8699517;7240710;8554872 10337628;10655058;16344560;23122587;23314748;23745134;24378291;9405633 340990 C9IZ84;H9KVB3;Q6ZRI0 ABBA01061062;ABBA01061063;AC124799;AK128214;AMYH02024384;CH471064;DB081210;DB096404;DB341780;DV080216;DV080241;DV080242;DV080384;DV080398;DV080434;EG328175;EG328176;KC877393;NG_033191;NM_001277269;NM_001292063 BAC87330;EAW68430;NP_001264198;NP_001278992;Q6ZRI0 Hs.688380 1737161;1737979;1739515;1851868;2134868;5037443 D11S1032;D11S1122;D11S3021;D11S3582;D11S4043;D11S4199 DFNB18B;FLJ46346;OTGN;mlemp OTTHUMP00000195075;OTTHUMP00000195076 protein-coding ENSG00000188162 HGNC:8516 604487;614945 REVIEWED 1353064 OTSC1 otosclerosis 1 ASSOCIATED WITH Otosclerosis (inferred) 7240710 9425236 5012 1335591;1340735;7185028 D15S1004;D15S130;D15S652 HGNC:8519 166800 1345913 OTSC3 otosclerosis 3 ASSOCIATED WITH Otosclerosis 3 (inferred) 7240710 12114476 170532 1336886 D6S1680 HGNC:17831 608244 1348662 OTSC4 otosclerosis 4 ASSOCIATED WITH Otosclerosis 4 (inferred) 7240710 286751 HGNC:19981 611571 1352878 OTSC5 otosclerosis 5 ASSOCIATED WITH Otosclerosis 5 (inferred) 7240710 15173231 317682 HGNC:20238 608787 1344786 OTSC2 otosclerosis 2 ASSOCIATED WITH Otosclerosis 2 (inferred) 7240710 11170898 93999 1339157;7184416 D7S2426;D7S495 HGNC:8520 605727 1343945 OTSC6 otosclerosis 6 319090 HGNC:20375 1346516 OTSC7 otosclerosis 7 ASSOCIATED WITH Otosclerosis 7 (inferred) 7240710 399516 HGNC:31084 611572 1344729 OTUD1 OTU deubiquitinase 1 Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008] 10 10 10 p12.2 23416596 23419451 + 23728198 23731310 + 23439269 23442381 + 6480464 10664582;14702039;15164054;17991829;18854154;19615732;21139048;23000965;23563609;23827681;24937664 220213 Q5VV17 AB188491;ABBA01034464;AI261652;AK096389;AL512603;AMYH02022450;NM_001145373 NP_001138845;Q5VV17 Hs.499042 1676634 RH94364 DUBA-7;DUBA7;OTDC1 OTTHUMP00000019312;OTU domain containing 1;OTU domain-containing protein 1 APPROVED protein-coding ENSG00000165312 HGNC:27346 612022 VALIDATED 1315448 OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011] 14 14 14 q32.12 74546470 74569021 + 94489511 94515276 + 94023165 94048930 + 6480464 12477932;12508121;12704427;14702039;15014966;15258613;15489334;16189514;17207965;18954305;19615732;19996094;20725033;21139048;21832049;21890473;21906983;22118674;22626734;23000965;23105109;23515685;23827681;24560272;24763515 78990 Q96DC9;Q9BWI9 ABBA01030423;AF318378;AI018242;AK025569;AL079302;AMYH02029779;AY177201;BC000208;BC009615;BC068058;BG423958;CH471061;CR457345;NM_023112;XM_005268055;XM_006725171 AAH00208;AAH09615;AAH68058;AAL55885;AAO27703;ADQ32027;BAB15172;CAG33626;EAW81548;EAW81549;NP_075601;Q96DC9;XP_005268112;XP_006725234 Hs.278815 2127589;2132712;2172988;5037746 D14S698E;D1S3696;RH64848;WIAF-1600 C14orf137;FLJ21916;MGC3102;OTB2;OTU2 OTTHUMP00000245762;OTU domain, ubiquitin aldehyde binding 2;OTU domain-containing ubiquitin aldehyde-binding protein 2;deubiquitinating enzyme OTUB2;otubain-2;ubiquitin thioesterase OTUB2;ubiquitin-specific protease otubain 2;ubiquitin-specific-processing protease OTUB2 APPROVED protein-coding ENSG00000089723 HGNC:20351 07620 608338 VALIDATED 1603307 OTUD4 OTU deubiquitinase 4 Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010] 4 4 4 q31.21 143382143 143428339 - 146054802 146101768 - 145133650 145180611 - 6480464;8554872 10470851;12477932;14702039;1475186;15144186;15302935;15489334;15592455;16344560;16964243;17081983;17353931;19167051;19615732;19996094;21139048;21906983;22118674;22952844;23000965;23182705;23656588;23827681;24816145;8889548 54726 D6RA27;D6RI06;Q01804 AB028969;ABBA01070024;ABBA01070025;AC096757;AK056597;AK302581;AL137460;AMYH02010248;AMYH02010249;AU139986;BC020682;BC057242;BC118572;BC118653;BM471766;CA313890;CH471056;DB446926;DQ427109;NM_001102653;NM_017493;X68242;XM_005263079;XM_005263080;XM_005263081 AAH20682;AAH57242;AAI18573;AAI18654;ABD72605;BAA82998;BAB71229;BAG63836;CAA48313;CAB70748;EAX05042;EAX05043;EAX05044;EAX05045;EAX05046;EAX05047;EAX05048;NP_001096123;NP_059963;Q01804;XP_005263136;XP_005263137;XP_005263138 Hs.270851 1666024;1668604;1670968;1849463;2109403;2170032 D4S2498E;D4S2813;HSHIN1_9812;SHGC-34890;SHGC-50260;WI-12349 DKFZp434I0721;DUBA6;HIN1;HSHIN1;KIAA1046 HIV-1 induced protein HIN-1;HIV-1-induced protein HIN-1;OTTHUMP00000220308;OTTHUMP00000220309;OTTHUMP00000220310;OTTHUMP00000220423;OTTHUMP00000222760;OTU domain containing 4;OTU domain-containing protein 4 APPROVED protein-coding ENSG00000164164 HGNC:24949 11033 611744 REVIEWED 732939 OTC ornithine carbamoyltransferase This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008] X X X p21.1 42349386 42418351 + 38211736 38280703 + 38352483 38421450 + 1601074;1582379;1300048;1600998;1600999;1580863;2300098;4143230;4144085;4144077;2303519;1643525;4144078;4144079;4144123;4144066;70249;4144059;4144061;4144071;4144069;4144080;4144087;4144083;6480464;6907045;7240710;8554872;8699517 10353541;11768581;11779202;11793468;1330956;1499453;15916970;17224795;17262046;18823438;19101528;2471197;3680220;4062872;7773204;7827141;7865721;8821709;8929856;8956038;9472964;9628242 10070627;10405441;10502831;10565370;10737985;10813810;11260212;11793483;12083811;12477932;12516615;12618087;1353535;1480464;15300856;15489334;15692798;15772651;1602151;1627356;16712791;1671317;16786505;17041896;1721894;17570074;17570354;1757964;17893704;18029348;18030415;18204299;18983895;19138872;19359120;19475717;19574962;19748344;19893582;20127982;20301396;2035531;2037279;20817516;21956151;2208768;2347583;24006547;24711021;2474822;2556444;2722850;2741942;2836378;2843770;2983225;3170748;3472484;3782067;3891325;3895227;3943133;6169723;6372096;6494904;6942417;7085676;7474905;7627182;7860064;7860066;7951259;8019569;8081373;8081398;8099056;8364586;8530002;8544185;8807340;8830175;8863155;8956045;9056557;9065786;9143919;9266388;9286441;9756929;9852088 5009 P00480 ABBA01047023;ABBA01047024;ABBA01047025;ABBA01047026;ABBA01047027;ABBA01047028;ABBA01047029;ABBA01047030;ABBA01047031;ABBA01047032;ABBA01047033;AF241726;AI247721;AK292757;AL606748;AL607040;AMYH02039171;BC074745;BC107153;BC107154;BC114496;BX118743;BX494966;CB158478;CH471141;D00095;D00230;K02100;M11235;NG_008471;NM_000531;S73640;X04443 AAA59975;AAA59976;AAB31859;AAH74745;AAI07154;AAI07155;AAI14497;BAA00058;BAA00161;BAF85446;CAA28039;EAW59439;EAW59440;NP_000522;P00480 Hs.117050 1698826;1702848;1729433;1741033;1741173;1742041;1744261;1744263;1744265;1744267;1744269;1744271;2128430;2163850;5015768;5017892;5117324;5119603;5126668 DXS8327;DXS9851;GDB:177412;GDB:177413;GDB:177425;GDB:178410;GDB:190001;GDB:439377;GDB:439383;GDB:439386;GDB:439389;GDB:439392;GDB:439398;GDB:439401;GDB:511285;OTC;RH102977;RH68978;SHGC-6137 MGC129967;MGC129968;MGC138856;OCTD OTCase;OTTHUMP00000024343;ornithine carbamoyltransferase, mitochondrial;ornithine transcarbamylase APPROVED protein-coding ENSG00000036473 HGNC:8512 02408;08947 300461;311250 REVIEWED 1604609 OTUD5 OTU deubiquitinase 5 This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response by cleaving the polyubiquitin chain from an essential type I interferon adaptor protein. Cleavage results in disassociation of the adaptor protein from a downstream signaling complex and disruption of the type I interferon signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2008] X X X p11.23 52847869 52884227 + 48779301 48815880 - 48922024 48958616 - 6480464;6907045 10664582;12477932;12938929;14702039;15146197;15302935;15489334;16169070;16341674;16344560;16368877;17991829;18781797;19615732;20972266;21139048;21890473;21906983;21963094;21987572;22118674;22245969;22505724;22939629;23000965;23827681;24143256;24250222;24763515;8889548 55593 H7BZQ3;Q96G74 ABBA01046081;ABBA01046082;ABBA01046083;ABBA01046084;ABBA01046085;ABBA01046086;ABBA01046087;AC233294;AC233300;AF207550;AK022612;AK026260;AK294590;AL137509;AMYH02039313;AMYH02039314;BC009917;BC011738;BC028225;BC098440;BM797460;BY799160;CB243128;CH471224;CN368451;DA237046;DC419901;NM_001136157;NM_001136158;NM_001136159;NM_017602;XM_005272622;XM_005278039;XM_005278042;XM_006724537 AAH09917;AAH28225;AAH98440;BAB14131;BAB15416;BAG57778;CAB70778;EAW50722;EAW50723;EAW50724;EAW50725;EAW50726;EAW50727;NP_001129629;NP_001129630;NP_001129631;NP_060072;Q96G74;XP_005272679;XP_005278096;XP_005278099;XP_006724600 Hs.496098 1665067;1757581;2112514;2163628;2184128;2184673 DXS1470;DXS8208;DXS9835;RH18187;SHGC-145044;SHGC-17255 DKFZp761A052;DUBA;MGC104871 OTTHUMP00000025820;OTTHUMP00000025821;OTTHUMP00000025822;OTTHUMP00000226750;OTU domain containing 5;OTU domain-containing protein 5;deubiquinating enzyme A;deubiquitinating enzyme A APPROVED protein-coding ENSG00000068308 HGNC:25402 06488 300713 REVIEWED 1605871 OTUD6A OTU deubiquitinase 6A Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA2 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008] X X X q13.1 69635707 69637395 + 69282341 69284029 + 70062491 70064179 + 6480464;8554872 12477932;14702039;23105109;23827681 139562 Q7L8S5 ABBA01067526;AK098697;AL158141;AMYH02039654;BC137355;BC137356;CH471132;NM_207320 AAI37356;AAI37357;BAC05384;EAX05357;NP_997203;Q7L8S5 Hs.447381 5015961;5109281 D15S1477;D1S1425 DUBA-2;DUBA2;FLJ25831;HSHIN6 HIN-6 protease;OTTHUMP00000217295;OTU domain containing 6A;OTU domain-containing protein 6A APPROVED protein-coding ENSG00000189401 HGNC:32312 13681 300714 PROVISIONAL 1322723 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin from branched poly-ubiquitin chains but not from ubiquitinated substrates. It interacts with another ubiquitin protease and an E3 ubiquitin ligase that inhibits cytokine gene transcription in the immune system. It is proposed to function in specific ubiquitin-dependent pathways, possibly by providing an editing function for polyubiquitin chain growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 61080100 61092667 + 63753325 63765892 + 63985853 63998420 + 6480464;7175260;8661242 22279542;24002223 10664582;11042152;12401499;12477932;12704427;14661020;14702039;15231748;15489334;16196087;16364312;17550899;18781797;18954305;19056867;19211026;19383985;19549727;19615732;19805454;19850743;19996094;20553488;20622874;20639865;20725033;21139048;21890473;21900206;21906983;21963094;21987572;22053931;22118674;22124327;22325355;22367539;22505724;22626734;22679021;22939629;22990118;23000965;23105109;23287719;23455924;23524849;23562397;23827681;23955022;24071738;24403071;24457600;24654937;24763515;25015289;25027693;8125298 55611 B3KUV5;F5GYJ8;F5GYN4;F5H3F0;F5H4F3;F5H6Q1;J3KR44;Q96FW1 ABBA01003282;ABBA01003283;ABBA01003284;AF161381;AK000120;AK091830;AK098029;AK225133;AK298287;AK303228;AK307413;AL096714;AMYH02024925;AP000721;AY177200;BC007519;BC010368;BC107701;CH471076;CK906312;CQ834180;NM_017670;NR_003089 AAF28941;AAH07519;AAH10368;AAI07702;AAO27702;BAA90956;BAG53567;BAG60547;BAG64315;CAH05305;CAH56412;EAW74187;EAW74188;EAW74189;EAW74190;EAW74191;NP_060140;Q96FW1 Hs.473788 1698790;1748513;2164660;5014051;5015619;5015861;5016478;5017170;5021872;5022578;5022651;5037552;5109281;7185938 D10S16;D11S2921;D11S3114;D1S1423;D1S1425;D8S2278;D8S2279;GDB:434012;L29953;RH102958;RH78815;SHGC-30562;sY3084 FLJ20113;FLJ40710;HSPC263;MGC111158;MGC4584;OTB1;OTU1;hOTU1 OTTHUMP00000236859;OTTHUMP00000236860;OTTHUMP00000236862;OTTHUMP00000236863;OTTHUMP00000237236;OTU domain, ubiquitin aldehyde binding 1;OTU domain-containing ubiquitin aldehyde-binding protein 1;OTU-domain Ubal-binding 1;deubiquitinating enzyme OTUB1;otubain-1;ubiquitin thioesterase OTUB1;ubiquitin-specific protease otubain 1;ubiquitin-specific-processing protease OTUB1 APPROVED protein-coding ENSG00000167770 HGNC:23077 08493 608337 REVIEWED 8655388 OTUD6B-AS1 OTUD6B antisense RNA 1 (head to head) 8 8 8 88269897 88277443 - 92075740 92082271 - 91059906 91070043 - 23793025 100506365 ABBA01037415;ABBA01037416;AC087439;AMYH02018398;BC030623;BC105990;BM715864;CB242575;HG501453;NR_110438;NR_110439;XR_108865;XR_113176;XR_171737;XR_432334 Hs.153412;Hs.729064 GS1-251I9.4 ncrna ENSG00000253738 HGNC:50466 VALIDATED 1602667 OTULIN OTU deubiquitinase with linear linkage specificity ENCODES a protein that exhibits cysteine-type peptidase activity; ubiquitin-specific protease activity; INVOLVED IN innate immune response; negative regulation of inflammatory response; negative regulation of NF-kappaB transcription factor activity; FOUND IN cytoplasm; INTERACTS WITH arsane; arsenic atom; calcitriol 5 5 5 p15.2 14688765 14723825 + 14664783 14699842 + 14664674 14699733 + 6480464 12477932;14702039;15489334;16189514;19322201;20379614;21139048;21145461;21906983;21963094;22939629;23000965;23708998;23746843;23806334;23827681;24250222;24461064;24726323;24726327;24816145 90268 D6RD57;H0Y8S4;H0Y9T0;Q96BN8 ABBA01020638;AC010491;AK092203;AK095615;AK123480;AMYH02010901;BC007706;BC015392;CH471102;CK817982;KC876944;NM_138348 AAH07706;AAH15392;BAC03828;EAX08037;EAX08038;EAX08039;NP_612357;Q96BN8 Hs.406335 1665899;1848589;2118376;2170426;5037552 D5S1623E;D8S2279;RH18318;SGC33915;WI-16043 FAM105B;FLJ34884;GUM OTTHUMP00000220699;OTU domain-containing deubiquitinase with linear linkage specificity;deubiquitinating enzyme otulin;family with sequence similarity 105, member B;gumby;hypothetical protein LOC90268;ubiquitin thioesterase Gumby;ubiquitin thioesterase otulin APPROVED protein-coding ENSG00000154124 HGNC:25118 14266 615712 VALIDATED 1352780 OTUD7B OTU deubiquitinase 7B ENCODES a protein that exhibits Lys48-specific deubiquitinase activity; ubiquitin-specific protease activity; cysteine-type peptidase activity (ortholog); INVOLVED IN negative regulation of I-kappaB kinase/NF-kappaB signaling; negative regulation of interleukin-8 production; negative regulation of protein localization to nucleus; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 17beta-estradiol; atrazine; calcitriol 1 1 1 q21.2 123028202 123098656 - 149912229 149982686 - 149940330 150067706 - 6480464;8554872 11463333;12477932;12682062;14748687;15302935;15342556;15489334;18029035;18029348;18178551;18474597;19427028;19615732;20622874;21097510;21139048;21624200;21888622;21890473;21906983;22118674;22179831;22505724;22939629;23000965;23251661;23564640;23827681;24550385;24639526;8889549;9928991 56957 Q5SZ59;Q6GQQ9 ABBA01049314;ABBA01049315;ABBA01049316;ABBA01049317;AC244033;AJ293573;AK299790;AL122102;AL358073;AL590487;AX961842;BC015719;BC020622;BC072681;BP321045;BP357326;BX641079;CH471121;NM_020205;T51077;XM_005277414;XM_006711461;XM_006711462;XM_006711463 AAH20622;AAH72681;ABZ92356;BAH13129;CAB59268;CAB97494;CAF06430;CAI12651;CAI12652;EAW53586;EAW53587;NP_064590;Q6GQQ9;XP_005277471;XP_006711524;XP_006711525;XP_006711526 Hs.98322 1656625;1668098;1677498;1708382;1752847;1770376;1770378;1857344;2149759;5015961;5022588;5037552 A005M02;A008P08;D15S1477;D1S3332;D1S3576;D5S1597E;D8S2279;G20321;RH92193;SHGC-106702;SHGC-82873;WI-16732 ZA20D1 CEZANNE;OTTHUMP00000014192;OTTHUMP00000014193;OTU domain containing 7B;OTU domain-containing protein 7B;cellular zinc finger anti-NF-kappa-B protein;cellular zinc finger anti-NF-kappaB Cezanne;zinc finger A20 domain-containing protein 1;zinc finger protein Cezanne;zinc finger, A20 domain containing 1 APPROVED protein-coding HGNC:16683 10313 611748 VALIDATED 1602119 OTUD6B OTU domain containing 6B This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013] 8 8 8 q21.3 88277450 88294349 + 92082424 92099323 + 91070196 91087095 + 6480464 10810093;12477932;15489334;16344560;19322201;19615732;20972266;21110914;21139048;21267069;22118674;22863883;22939629;22944692;23000965;24250222;24816145 51633 H0YB21;Q8N6M0 AA748163;ABBA01037416;AC087439;AF151836;AK291646;AK293843;AK310823;AL137441;AMYH02018398;BC029760;BI712470;BQ000463;BX647772;CH471060;DA034027;NM_001286745;NM_016023 AAD34073;AAH29760;BAF84335;BAG57241;CAB70738;EAW91675;EAW91676;NP_001273674;NP_057107;Q8N6M0 Hs.30532 1688877;1735746;2149712 D8S1360E;RH93935;SHGC-35860 CGI-77;DUBA-5;DUBA5 OTTHUMP00000198453;OTU domain-containing protein 6B APPROVED protein-coding ENSG00000155100 HGNC:24281 13041 612021 VALIDATED 6482153 OTX2P1 orthodenticle homeobox 2 pseudogene 1 9 9 q21 78339087 78339727 - 75724171 75724811 - 100033409 ABBA01033896;AL157883;AMYH02021015;NG_032194 OTX2P pseudo HGNC:33281 INFERRED 6482919 OTX2-AS1 OTX2 antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 14 14 14 37329415 37447108 + 57279901 57397551 + 56813183 56930833 + 6480464;8554872 12477932;15703187 100309464 ABBA01018233;ABBA01018234;ABBA01018235;AL161757;AL162831;AMYH02029253;AMYH02029254;BC041486;HG506240;NR_029385 Hs.637962 1693554;1719965;1777569;1789050;2117951;2121772;2155388;2180337;5015879;5021228;5037552 D8S2279;G35948;G36071;G65660;GDB:312794;GDB:314949;RH123961;RH47643;SGC31031;SHGC-31332;SHGC-58465 OTX2OS1;RP11-1077A2.1 APPROVED ncrna ENSG00000248550 HGNC:43906 PREDICTED 736236 OTX1 orthodenticle homeobox 1 This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for proper brain and sensory organ development and can cause epilepsy. Alternate splicing results in two transcript variants that encoded the same protein.[provided by RefSeq, Dec 2010] 2 2 2 p13 63122518 63128867 + 63277192 63284966 + 63050057 63057831 + 1580863;6480464 10624946;11901358;12477932;14702039;15105370;15342556;15489334;15815621;16189514;18849347;19018235;19414065;19447967;19767753;19893048;20354145;21478910;21750575;24388989;7959790;8101484;8841200;8889548;9520436 5013 B4DM62;B5MC54;P32242 AB037501;ABBA01075397;AC009501;AK095680;AK297308;AMYH02003951;AMYH02003952;BC007621;BM720707;BP310240;BU689444;CH471053;NM_001199770;NM_014562;XM_006712025 AAH07621;AAY24357;ABM84227;ABM87508;BAA90421;BAG53106;BAG59774;EAW99966;EAW99967;EAW99968;NP_001186699;NP_055377;P32242;XP_006712088 Hs.734360 1746991 Otx1 FLJ38361;MGC15736 OTTHUMP00000159827;OTTHUMP00000201938;homeobox protein OTX1;orthodenticle homolog 1 APPROVED protein-coding ENSG00000115507 HGNC:8521 08964 600036 REVIEWED 8694984 OVAAL ovarian adenocarcinoma amplified long non-coding RNA q25.3 12477932;24265805 148756 AL358354;BC036830;BC044260;BC063624;BC073892;BC107121;BC107122;NR_125716 LINC01131;OVAL ncrna HGNC:49422 VALIDATED 1351552 OTUD7A OTU deubiquitinase 7A Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. OTUD7A belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008] 15 15 15 q13.3 9500530 9586701 - 31773884 32162875 - 31481682 31870672 - 6480464;8554872 12477932;15489334;20400778;21139048;23650146;23792447;23827681;24324551;24722188 161725 H0YMI7;H0YN66;Q8TE49 ABBA01038335;ABBA01038336;ABBA01038337;AC021316;AC026951;AC079969;AC104266;AC104759;AC243688;AC243759;AJ430383;AK126002;AK308630;BC035668;CH471216;CQ772591;KJ534968;NM_130901;XM_006720413 AAH35668;AAI72582;AHW56608;CAD23047;CAF33875;EAW61269;EAW61270;EAW61271;EAW61272;EAW61273;NP_570971;Q8TE49;XP_006720476 Hs.355236 1658031;2178152 RH77828;SHGC-33431 C15orf16;C16ORF15;CEZANNE2;OTUD7 OTTHUMP00000159599;OTU domain containing 7A;OTU domain-containing 7A;OTU domain-containing protein 7A;cezanne 2;chromosome 15 open reading frame 16;zinc finger protein Cezanne 2 APPROVED protein-coding HGNC:20718 12666 612024 PROVISIONAL 7244714 OVCH1-AS1 OVCH1 antisense RNA 1 12 12 p 29542227 29640257 + 29389294 29487324 + 10737800 101055625 AA910547;ABBA01068074;ABBA01068075;ABBA01068076;ABBA01068077;AC009318;AC012151;AMYH02026259;AMYH02026260;AW104191;BF082128;BQ058205;BX119718;CA307018;HY017985;LK938702;NR_073170;NR_073171;NR_073172 Hs.569158;Hs.622902 ncrna ENSG00000257599 HGNC:44484 VALIDATED 8548154 OTUD4P1 OTUD4 pseudogene 1 12 12 12 p13.32 5570596 5577408 + 3948627 3955439 + 3839461 3846273 + 12838346;16541075;19167051;21906983 360227 ABBA01048774;AC005842;AC006207;AMYH02025911;BN000160;NG_005318 CAD89763 1668604;2170032 SHGC-50260;WI-12349 HIN1L pseudo HGNC:33912 INFERRED 1344116 OVD1A 2-oxoisovalerate dehydrogenase (lipoamide) 5014 HGNC:8523 1343843 OVCH1 ovochymase 1 ENCODES a protein that exhibits metal ion binding (inferred); serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN extracellular region (inferred) 12 12 12 p11.22 34725854 34795972 - 29580489 29650619 - 29427556 29497686 - 1580863 12838346;16541075 341350 H0YGY6;H0YH00;Q7RTY7 ABBA01068076;ABBA01068077;AC012151;AMYH02026260;BN000128;CH471094;NM_183378 AAI52895;AAI56870;CAD67579;EAW96595;EAW96596;NP_899234;Q7RTY7 Hs.674588 1336346;1722917;1725973;1726139;1726145;1746551 D12S1631;G60555;G62263;G62264;G62393;G64653 OVCH OTTHUMP00000236701;ovochymase-1 protein-coding ENSG00000187950 HGNC:23080 07138 INFERRED 1349339 OVGP1 oviductal glycoprotein 1, 120kDa This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions. [provided by RefSeq, Jul 2008] 1 1 1 p13 110203892 110217354 - 111956937 111970399 - 111414315 111427777 - 1580863;6480464;8554872 10728974;11818519;12477932;12503889;14641477;15489334;15585630;16169070;16209999;16567366;16710414;18834073;20130498;20800603;21988832;22028245;3278893;7819450;9109822;9341614 5016 B4DHP1;B4DQD7;Q12889;Q86YN0 AA909093;AB208783;ABBA01068397;AF189710;AK295207;AK298757;AK301726;AK314074;AL390195;AMYH02001727;AY189737;BC126177;BC136406;CH471122;NM_002557;U09550;U58010 AAA86946;AAB04126;AAF01065;AAI26178;AAI36407;AAO37816;BAD92020;BAG36774;BAG58203;BAG60899;BAG63192;EAW56491;EAW56492;NP_002548;Q12889 Hs.1154 1649591;1660114;1796440 D1S3210;OVGP1_1686;RH70550 CHIT5;EGP;MUC9;OGP OTTHUMP00000013471;estrogen-dependent oviduct protein;mucin 9;mucin-9;oviduct glycoprotein;oviduct-specific glycoprotein;oviductin APPROVED protein-coding ENSG00000085465 HGNC:8524 04658 603578 REVIEWED 7365583 OVOL1-AS1 OVOL1 antisense RNA 1 11 11 q13.1 65556522 65558674 - 65789001 65790868 - 101927828 ABBA01024100;AMYH02024964;AP001266;AW183942;BX119482;NR_108085 Hs.666246 ncrna ENSG00000255120 HGNC:49319 VALIDATED 1604042 OTUD3 OTU deubiquitinase 3 ENCODES a protein that exhibits ubiquitin-specific protease activity; INVOLVED IN protein K11-linked deubiquitination; protein K6-linked deubiquitination; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; methyl methanesulfonate 1 1 1 p36.13 18535727 18566275 + 20208356 20239438 + 19881863 19912945 + 6480464 11181995;12477932;16710414;18187620;19122664;19915572;20228798;20228799;21139048;23511034;23827681;24250222;9455484 23252 Q0VDK5;Q5T2D3 AA829387;AB007928;ABBA01059770;AL358253;AL391883;AMYH02000424;BC119636;BC134416;CH471134;CV573628;NM_015207;XM_005245792;XM_005245793;XM_005245794;XM_006710481 AAI19637;AAI34417;BAA32304;EAW94905;NP_056022;Q5T2D3;XP_005245849;XP_005245850;XP_005245851;XP_006710544 Hs.374987 1648959;1725265;5015861;5037552;7185938 D10S16;D8S2279;RH119352;SGC32455 DUBA4;KIAA0459;RP11-460G22.1 OTTHUMP00000002782;OTU domain containing 3;OTU domain-containing protein 3 APPROVED protein-coding ENSG00000169914 HGNC:29038 611758 VALIDATED 1603916 OVCA2 ovarian tumor suppressor candidate 2 INVOLVED IN response to retinoic acid; ASSOCIATED WITH Ovarian Neoplasms; FOUND IN cytoplasm; INTERACTS WITH atrazine; copper(2+) sulfate; diazinon 17 17 17 p13.3 1961923 1963371 + 1945277 1946725 + 2041983 2043431 + 2302168;6480464 8616839 11979432;12477932;14702039;16368187;16712791;17207965;22939629 124641 Q8WZ82 ABBA01054688;AC090617;AF073528;AF321875;AF335321;AMYH02032761;BC040696;BC041170;CB137429;CH471108;NM_080822 AAC62628;AAH40696;AAH41170;AAL35713;AAN04659;ACT64486;ACT64487;ADQ33012;EAW90568;NP_543012;Q8WZ82 Hs.513856 1655243;1746663;1746665;1746667;1746681;1775180;2156718 G54884;G54885;G54886;G54887;RH18399;RH78032;WI-14017 OTTHUMP00000163303;candidate tumor suppressor in ovarian cancer 2;ovarian cancer gene-2 protein;ovarian cancer-associated gene 2 protein APPROVED protein-coding ENSG00000262664 HGNC:24203 07437 607896 VALIDATED 1602408 OVCH2 ovochymase 2 (gene/pseudogene) ENCODES a protein that exhibits metal ion binding (inferred); serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); potassium dichromate (ortholog) 11 11 11 p15.4 7828110 7843289 - 7710669 7728001 - 7689438 7706454 - 6480464;8554872 12838346;16554811;19557197 341277 Q7RTZ1 ABBA01028682;AC104237;AMYH02024282;AMYH02024283;AMYH02024284;AW271430;BN000120;CH471064;NM_198185;XM_006718221 AAI60173;CAD66452;EAW68647;NP_937828;Q7RTZ1;XP_006718284 Hs.532475 OVTN OTTHUMP00000235285;oviductin protease;ovochymase-2 APPROVED protein-coding ENSG00000183378 HGNC:29970 07139 VALIDATED 5683924 OVOL3 ovo-like zinc finger 3 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 19 19 19 q13.12 33316285 33318744 + 36602105 36604613 + 36111203 36113711 + 12213202;15057824;22737237 728361 K7EKH2;O00110 ABBA01018779;AC004144;AD001527;AI206718;AMYH02036000;NM_001270948 AAB51180;NP_001257877;O00110 Hs.143920 HOVO3 OVO homolog-like 3;ovo-like 3;ovo-like 3 (Drosophila);putative transcription factor Ovo-like 2-like;putative transcription factor ovo-like protein 3 APPROVED protein-coding ENSG00000105261 HGNC:14186 PROVISIONAL 6480852 OXCT1-AS1 OXCT1 antisense RNA 1 5 41870030 41872241 + 100874002 ABBA01024237;AC034222;AMYH02011221;DB470733;NG_011823;NR_046635 Hs.375537 APPROVED ncrna ENSG00000248668 HGNC:40423 VALIDATED 1315859 OXCT2 3-oxoacid CoA transferase 2 OXCT2 is a testis-specific succinyl-CoA:3-oxoacid CoA transferase (EC 2.8.3.5), which catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate in the first step of ketone body utilization. See also OXCT1 (MIM 601424).[supplied by OMIM, Mar 2008] 1 1 1 p34 38262370 38264174 + 40235197 40237020 - 39769525 39771348 - 1580863;2326216;6480464;6907045 11090426 11214971;11327867;11756565;12477932;14702039;15489334 64064 Q9BYC2 AB050193;ABBA01023201;AK024440;AK093089;AK314586;AL033527;AMYH02000837;AY013700;BC030015;BC072388;HC007202;NM_022120 AAG33922;AAH72388;ABM84266;ABM87659;BAB15730;BAB40810;BAG37161;BAG52651;CBH19406;NP_071403;Q9BYC2 Hs.472491 2180677;5022578 AL010109;D1S1423 FKSG25;FLJ00030;SCOTT 3-oxoacid CoA-transferase 2A;3-oxoacid-CoA transferase 2A;OTTHUMP00000010841;succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial;succinyl-CoA:3-ketoacid-coenzyme A transferase 2, mitochondrial;testis-specific succinyl CoA:3-oxoacid CoA-transferase;testis-specific succinyl-CoA:3-oxoacid CoA-transferase APPROVED protein-coding ENSG00000198754 HGNC:18606 15093 610289 PROVISIONAL 1348789 OXCT2P1 3-oxoacid CoA transferase 2 pseudogene 1 1 1 1 p34.3 38262370 38264174 + 39980535 39982339 + 39514863 39516667 + 11756565 192217 AB052900;ABBA01023208;AL365277;AMYH02000833;NG_001331 OXCT2P APPROVED pseudo HGNC:21627 INFERRED 1346676 OXER1 oxoeicosanoid (OXE) receptor 1 INVOLVED IN regulation of cAMP biosynthetic process; FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; disodium selenite; fonofos 2 2 2 p21 42828890 42830652 - 42989639 42991401 - 42762499 42764261 - 1580863;6480464 12044878;12065583;12477932;12606753;14702039;15001665;15489334;15815621;16289380;18577758;18821565;23643940;24733850;2834384 165140 Q8TDS5 AB065652;AB083055;AB083630;ABBA01075076;AC098824;AMYH02003682;AY158687;BC063549;CH471053;NM_148962 AAH63549;AAO17739;AAY14700;BAB89343;BAC05878;BAC11806;EAX00312;NP_683765;Q8TDS5 Hs.168439 1677460;1677462 RH80145;RH80146 GPCR;GPR170;TG1019 5-oxo-ETE G-protein coupled receptor;5-oxo-ETE acid G-protein-coupled receptor 1;G-protein coupled receptor 170;G-protein coupled receptor R527;G-protein coupled receptor TG1019;OTTHUMP00000158809;oxoeicosanoid receptor 1 protein-coding ENSG00000162881 HGNC:24884 17812 VALIDATED 1346637 OXGR1 oxoglutarate (alpha-ketoglutarate) receptor 1 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Otitis Media with Effusion (ortholog); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; aflatoxin B1; all-trans-retinoic acid 13 13 13 q32.1 78485394 78494031 - 97637973 97646984 - 96985719 96994730 - 1331359;6480464;7775025;8554872 15141213;23200873 11574155;12044878;12098360;12477932;15001573;15057823;15489334;19760608;20379614 27199 B2R986;F5H3P1;F5H6U5;Q96P68 AB065877;AB083598;ABBA01027167;AF370886;AF411109;AJ305372;AK122639;AK313684;AL356486;AMYH02028541;AX458238;AX646271;BC103881;BC103882;BC103883;CH471085;CQ798086;JQ308179;NM_080818;XM_005254043;XM_005254044;XM_005254045;XM_005254046 AAI03882;AAI03883;AAI03884;AAL26480;AAM76912;AFF59489;BAB89311;BAC06095;BAG36433;BAG53633;CAC83857;CAD38348;CAD69266;CAG26849;EAX08964;NP_543008;Q96P68;XP_005254100;XP_005254101;XP_005254102;XP_005254103 Hs.352218 5492519;5492799 UniSTS:481430;UniSTS:482693 GPR80;GPR99;MGC119206;MGC119207;MGC119208;P2RY15;P2Y15;aKGR 2-oxoglutarate receptor 1;G protein-coupled receptor 80;G protein-coupled receptor 99;G-protein coupled receptor 80;G-protein coupled receptor 99;OTTHUMP00000018575;OTTHUMP00000236959;OTTHUMP00000236961;P2Y purinoceptor 15;P2Y-like GPCR;P2Y-like nucleotide receptor;alpha-ketoglutarate receptor 1;oxoglutarate receptor 1;seven transmembrane helix receptor APPROVED protein-coding ENSG00000165621 HGNC:4531 06082 606922 REVIEWED 2290031 OXLD1 oxidoreductase-like domain containing 1 FOUND IN mitochondrion (inferred); INTERACTS WITH clofibrate (ortholog) 17 17 17 q25.3 76276983 76278535 - 79632066 79633618 - 81665036 81666588 - 6480464 12477932;20877624;8619474;9110174 339229 I3L208;I3L247;Q5BKU9 ABBA01032159;AC139530;AMYH02034134;AY007126;BC038412;BC048102;BC090923;NM_001039842 AAH90923;NP_001034931;Q5BKU9 Hs.405942 1697852 RH102453 C17orf90;MGC104712 hypothetical protein LOC339229;oxidoreductase-like domain-containing protein 1;uncharacterized protein C17orf90 APPROVED protein-coding ENSG00000204237 HGNC:27901 PROVISIONAL 1315865 OVOL1 ovo-like zinc finger 1 This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011] 11 11 11 q13 62885403 62888586 + 65554505 65564690 + 65787034 65797219 + 1580863;6480464 12477932;15489334;16344560;17311813;18029348;20379614;20383146;21988832;22197932;22737237;23042114;23263486;23278845;23535729;23725790;9383297;9808631 5017 G3V1B0;O14753 ABBA01024100;ABBA01024101;ABBA01024102;AF016045;AK291711;AL702845;AMYH02024964;AP001266;AW207443;BC043146;BC059408;BX648725;CH471076;CV572438;DA585109;NM_004561;XM_005274017;XM_005274018 AAB72084;AAH43146;AAH59408;ABZ92428;ACE86864;ACE87552;BAF84400;CAH56127;EAW74439;NP_004552;O14753;XP_005274074;XP_005274075 Hs.134434 1769076;1797936;1852083;2182523 OVOL1_2102;SHGC-31436;STS-R06866;WI-17527 HOVO1 OTTHUMP00000233668;OTTHUMP00000233669;ovo homolog-like 1;ovo-like 1(Drosophila);putative transcription factor Ovo-like 1 APPROVED protein-coding ENSG00000172818 HGNC:8525 09080 602313 REVIEWED 1312252 OXCT1 3-oxoacid CoA transferase 1 This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008] 5 5 5 p13.1 41618583 41759082 - 41730167 41870791 - 41730065 41870689 - 1580863;2326198;2326100;2326201;2326093;2326185;2326191;6480464;6907045;7240710;8554872;8699517 15449568;15877199;19219059;20460097;3548709;8844009 10964512;11756565;12477932;1405472;14702039;15489334;15496607;16765626;17706444;18029348;18648183;19296078;20381070;20652411;20877624;21163940;21296660;21565611;21791085;22863883;22939629;23420214;24583282;24816145;25027693;6150478;8751852;9380443;9671268 5019 E9PDW2;P55809 AB029576;ABBA01024235;ABBA01024236;ABBA01024237;AC008817;AC034222;AC114946;AK125115;AK298352;AK299668;AK312327;AK315902;AMYH02011221;BC009001;BE244429;CH471119;CR457049;EF095213;HH961782;NG_011823;NM_000436;U62961;XR_427658 AAB07366;AAH09001;ABL01517;ABM82731;ABM85915;BAB13733;BAG35249;BAH12764;BAH13095;BAH14273;CAG33330;CBX51364;EAW56014;EAW56015;NP_000427;P55809 Hs.278277 1666158;2150448;2152107;5014740;5022322;5037552;5109362 D11S2560;D17S1239;D17S610;D5S2324;D8S2279;G18180;WI-22128 OXCT;SCOT;SCOT-s 3-oxoacid CoA-transferase 1;3-oxoacid-CoA transferase 1;OTTHUMP00000120012;OTTHUMP00000221550;somatic-type succinyl CoA:3-oxoacid CoA-transferase;somatic-type succinyl-CoA:3-oxoacid CoA-transferase;somatic-type succinyl-CoA:3-oxoacid-CoA-transferase;succinyl CoA:3-oxoacid CoA transferase;succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial;succinyl-CoA:3-ketoacid-CoA transferase;succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial APPROVED protein-coding ENSG00000083720 HGNC:8527 02001 245050;601424 REVIEWED 1603935 OXNAD1 oxidoreductase NAD-binding domain containing 1 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; quercetin 3 3 3 p25-p24 16245587 16286511 + 16306667 16379000 + 16265160 16323368 + 6480464;8554872 12477932;17207965;20877624 92106 C9JLB7;F8WB50;F8WBF3;Q96HP4;U3KQU8 AB209556;ABBA01025130;ABBA01025131;AC090948;AC090953;AK298829;AK307258;AL583453;AL832787;AMYH02006341;BC007285;BC008322;BC018770;BE018369;CH471055;DC321860;DQ364598;NM_138381;XM_005265559;XM_006713405;XM_006713406 AAH08322;ABC95193;ADQ32643;BAD92793;BAG60959;EAW64270;EAW64271;EAW64272;NP_612390;Q96HP4;XP_005265616;XP_006713468;XP_006713469 Hs.655449 5113565 RH99017 MGC15763 OTTHUMP00000160306;OTTHUMP00000211112;oxidoreductase NAD-binding domain-containing protein 1 protein-coding ENSG00000154814 HGNC:25128 14446 VALIDATED 1603026 OXSM 3-oxoacyl-ACP synthase, mitochondrial This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009] 3 3 3 p24.2 25768436 25772898 + 25831563 25836025 + 25790072 25794534 + 6480464;6907045 11256614;12477932;14702039;15489334;15668256;16344560;18029348;20877624;21832049;24250222;8125298 54995 B4E3Q7;C9J2G3;C9JQQ2;F8VNS3;Q9NWU1 ABBA01025015;AC092798;AK000611;AK225260;AK304821;AMYH02006426;AX350304;AX350306;BC008202;CH471055;DA916187;HC909479;HC912803;NG_034108;NM_001145391;NM_017897;NR_026937;XM_006713216;XM_006713217 AAH08202;ADZ15386;BAA91286;BAG65569;CAD22819;CAD22820;CBN69072;CBN70680;EAW64367;EAW64368;EAW64369;NP_001138863;NP_060367;Q9NWU1;XP_006713279;XP_006713280 Hs.55781 1697394 RH102197 FASN2D;FLJ20604;KASI;KS 3-ketoacyl-acyl carrier protein synthase;3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial;3-oxoacyl-acyl-carrier-protein synthase;OTTHUMP00000161043;OTTHUMP00000208316;acyl-malonyl acyl carrier protein-condensing enzyme;beta-ketoacyl synthase;beta-ketoacyl-ACP synthase;type II mitochondrial beta-ketoacyl synthase APPROVED protein-coding ENSG00000151093 HGNC:26063 07931 610324 REVIEWED 1316768 OXA1L oxidase (cytochrome c) assembly 1-like ENCODES a protein that exhibits mitochondrial ribosome binding; protein homodimerization activity; INVOLVED IN aerobic respiration; mitochondrial proton-transporting ATP synthase complex assembly; mitochondrial respiratory chain complex I assembly; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of mitochondrial membrane; mitochondrial membrane; mitochondrion; INTERACTS WITH atrazine; cobalt dichloride; sirolimus 14 14 14 q11.2 3098625 3103892 + 23235731 23240998 + 22766522 22771789 + 1580863;6480464;8554872 12191770;12477932;12972568;15342556;15489334;17936786;18029348;19349278;20186120;20601428;20677014;20739282;20877624;21890473;21963094;21988832;22939629;24816145;7991568;8586451;9247084 5018 C9JC63;E7EVY0;H7BZE6;J3KNA0;Q15070;Q2M1J6;S4R3Q9 ABBA01061283;AJ001981;AK294849;AK298249;AL135998;AMYH02028847;BC001669;BC112331;BP303816;BP330984;BQ029315;BX248001;BX248295;CH471078;NM_005015;X80695 AAH01669;AAI12332;BAG57953;BAG60514;CAA05127;CAA56712;CAD62333;CAD62623;EAW66249;NP_005006;Q15070 Hs.151134 1770258;1857986;2147278 D14S1254;D14S684E;WI-9372 MGC133129;OXA1;OXA1Hs;hsa OTTHUMP00000027912;OTTHUMP00000211617;OTTHUMP00000211622;OXA1-like protein;mitochondrial inner membrane protein OXA1L;oxidase assembly 1-like protein protein-coding ENSG00000155463 HGNC:8526 03043 601066 VALIDATED 1314567 OVOL2 ovo-like zinc finger 2 ENCODES a protein that exhibits transcription regulatory region DNA binding; INVOLVED IN negative regulation of keratinocyte differentiation; negative regulation of Notch signaling pathway; negative regulation of transcription by competitive promoter binding; FOUND IN nucleus (ortholog); INTERACTS WITH hydrogen peroxide; pirinixic acid; trichostatin A 20 20 20 p11.23 18079347 18113079 - 18004796 18039834 - 18024152 18059190 - 1580863;6480464 11780052;12213202;12477932;14702039;15489334;19700410;22737237;23824909 58495 Q9BRP0 ABBA01054038;ABBA01054039;AK022284;AL079276;AL121585;AL160411;AMYH02036774;AMYH02036775;BC006148;BT007295;CH471133;NM_021220;XM_005260783 AAH06148;AAP35959;BAB14002;CAB45151;EAX10258;EAX10259;NP_067043;Q9BRP0;XP_005260840 Hs.661013;Hs.710157 1709534;1721439;1776879;1784394;2168206;5022450 D10S275;G59571;RH48332;SHGC-154610;SHGC-81846;Z94514 EUROIMAGE566589;ZNF339;hOvo2 OTTHUMP00000030347;ovo-like 2;transcription factor Ovo-like 2;zinc finger protein 339 APPROVED protein-coding ENSG00000125850 HGNC:15804 15780 VALIDATED 1313892 OTX2 orthodenticle homeobox 2 This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012] 14 14 14 q22.3 37316938 37326697 - 57267425 57277194 - 56800707 56810476 - 1580863;6480464;7240710;8554872;8699517 10354480;10372988;10623575;12477932;12559959;12642491;12663655;15105370;15489334;15705863;15705891;15846561;15890343;16267555;16344560;16607563;16712695;16713569;17060451;17541950;17905480;18628516;18666230;18728160;18781617;18849347;18854396;19414065;19686387;19913121;19956411;19965921;20028867;20057906;20301552;20354145;20396904;20486942;20494911;20530484;20573704;20628086;21047732;21057506;21353197;21697133;21832049;21964830;22016811;22094256;22198066;22204637;22259223;22268617;22508046;22577225;22715480;22783640;22986744;23179372;23275563;23566845;23794319;24227910;7959790;8101484;9520436 5015 F1T0C9;F1T0D0;F1T0D1;G3V3J3;G3V3P9;P32243 AB037505;AB593056;AB593057;AB593058;ABBA01018233;AF093138;AF298117;AK314271;AL161757;AMYH02029253;BC032579;BE781530;BU176852;CH471061;CV812961;DB294481;NG_008204;NM_001270523;NM_001270524;NM_001270525;NM_021728;NM_172337;NR_073034;NR_073036 AAD31385;AAG16243;AAH32579;ABM81801;ABW03293;BAA90425;BAG36932;BAJ84003;BAJ84004;BAJ84005;EAW80692;EAW80693;NP_001257452;NP_001257453;NP_001257454;NP_068374;NP_758840;P32243 Hs.288655;Hs.741558 1772060;1779880;1793720;1793890;1796438;1851604;5023089 A005E27;OTX2_1019;Otx2;PMC263842P1;PMC304098P1;RH68366;SHGC-153881 CPHD6;MCOPS5;MGC45000 OTTHUMP00000179022;OTTHUMP00000245026;OTTHUMP00000245028;OTTHUMP00000245041;OTTHUMP00000245042;homeobox protein OTX2;orthodenticle homolog 2 APPROVED protein-coding HGNC:8522 07190 600037;610125;613986 REVIEWED 737586 OXT oxytocin/neurophysin I prepropeptide This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [provided by RefSeq, Dec 2013] 20 20 20 p13 3114251 3115147 + 3052266 3053163 + 3071620 3072517 + 1580863;1579892;2304129;2304139;2304111;2304174;2304192;2304127;2304087;2304105;1579891;6480464 11764003;14624682;15821089;16157794;17393298;17664006;17826914;18403049;18562099;19234577 10218979;10698266;10829090;11140838;11780052;12126740;12173;12183418;12475731;12477932;12712516;12832367;12834028;12843193;13591312;14607844;1486803;15089975;15093695;15489334;16678285;16754659;16778082;17137561;17252002;17474147;17492653;17931766;18008328;18207134;18384894;18461271;18566739;18568974;18794210;18940936;19001515;19005082;19058789;19086053;19335381;19336370;19347709;19473710;19481007;19500216;19587265;19598235;19672816;19874574;19943975;20144509;20196918;20220015;20308198;20371820;20399783;20436377;20468064;20547007;20547038;20595062;20602615;20711752;21073007;21090345;21315262;21562482;21682649;21741363;21744319;21832819;21893160;21903023;21960250;21984889;22069312;22227278;22245314;22285934;22297159;22306668;22336563;22418012;2249637;22543270;22807189;22872688;22920910;22997507;23025690;23144787;23146328;23258269;23284856;23410756;23453164;23550008;23589638;23637833;23799864;23835346;23856187;23937196;23941164;24086383;24722188;2991279;3008332;3768139;4065330;6153132;6574452;7262323;9501254;9665335 5020 P01178;X5D7M6 ABBA01053805;AI185553;AL160414;AMYH02036591;AY082910;BC069144;BC101841;BC101843;CH471133;CQ753275;KJ534910;M11186;M25650;M62611;NM_000915;X03173 AAA59977;AAA59979;AAA98806;AAH69144;AAI01842;AAI01844;AAL92860;AHW56550;CAA26936;CAF32560;EAX10555;NP_000906;P01178 Hs.113216 2131515;2183927;5492931 RH64825;STS-M11186;UniSTS:483281 MGC126890;MGC126892;OT;OT-NPI;OXT-NPI OTTHUMP00000030079;neurophysin I;oxytocin, prepro- (neurophysin I);oxytocin, prepropeptide;oxytocin-neurophysin 1;oxytocin-neurophysin I, preproprotein APPROVED protein-coding ENSG00000101405 HGNC:8528 08880 167050 REVIEWED 1353221 P200 p200 cell surface protein 5035 HGNC:8532 736017 OXTR oxytocin receptor The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008] 3 3 3 p25 8726881 8746086 - 8792094 8811300 - 8750408 8769614 - 1579893;1579891;1580863;1579892;2304092;2304192;2304174;6480464 11764003;12826328;14624682;15821089;16157794;18655887 10027615;10453463;10698266;10858434;10910058;11140838;11279203;11955056;12126740;12161007;12166628;12270111;12477932;12810550;12843193;12955084;1313946;14664707;14691010;14749664;15035619;15044599;15089975;15089977;15093695;15452121;15591449;15705593;15831296;15992526;16042376;16333859;16754659;16888077;16966388;17148753;17383819;17492653;17726073;17728669;17893705;17939166;17952758;18082926;18207134;18312604;19001515;19015103;19086053;19126785;19336370;19347709;19376182;19423652;19461999;19515497;19598235;19777562;19845972;19934046;19943975;20094064;20096818;20097922;20196918;20303388;20347913;20400491;20413116;20436377;20452482;20488544;20547007;20547038;20585395;20647384;20670427;20673868;20708845;20711752;20724662;20832055;20926803;21090345;21208749;21561435;21734268;21876222;21896752;21906983;21934640;21963428;21964067;21984889;22015110;22064162;22084107;22123970;22146101;22212599;22296985;22336563;22357335;22372486;22421562;22457427;22487732;22510359;22563705;22651577;22763666;22809402;22882465;22892716;22986294;22999795;23040540;23089921;23219106;23252931;23284802;23354128;23355275;23470776;23562248;23637833;23653389;23678036;23684879;23731038;23838880;23889750;23915847;24059750;24128365;24209975;24223720;24295535;24367110;24722188;7607693;7798245;7921229;8077313;8593829;8593830;9283088;9433921 5021 B2R9L7;C9JN09;C9JQC4;P30559 ABBA01020417;AC068312;AK313830;AMYH02006221;AY389507;BC137443;CH471055;KJ535048;NG_008797;NM_000916;X64878;X80282 AAI37444;AAQ91333;AHW56687;BAG36564;CAA46097;CAA56562;EAW63947;NP_000907;P30559 Hs.2820 1645702;1731227;1745407;1792930;2153889;2159513;5106050 D3S18;D3S4163;D3S4539;GDB:606394;OXTR;PMC170950P1;STS-X64878 OT-R OTTHUMP00000115639 APPROVED protein-coding ENSG00000180914 HGNC:8529 01328 167055 REVIEWED 1351310 OXSR1 oxidative stress responsive 1 The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. [provided by RefSeq, Jul 2008] 3 3 3 p22.2 38142644 38232606 + 38207022 38296979 + 38165531 38255488 + 1580863;6480464 10083736;10231028;10470851;12386165;12477932;14707132;15302935;15345747;15489334;15761153;16263722;16389068;16669787;16832045;17081983;17353931;17452356;17549794;17721439;18029348;18270262;18831043;19056867;19177573;19322201;20819979;20889219;21139048;21832049;22863883;22939629;22989884;23034389;23455922;24393035;24797263;24816145 9943 C9JIG9;F8WBK9;O95747 AB017642;AB029024;ABBA01024825;ABBA01024826;ABBA01024827;AF087893;AK309634;AMYH02006565;AMYH02006566;AP006193;AP006308;AP006309;BC008726;BI090706;CH471055;DQ201638;EF491821;NM_005109;XM_005265638 AAH08726;AAP97192;ABA27097;ABM84181;ABM87583;BAA75674;BAA83053;EAW64522;EAW64523;EAW64524;EAW64525;NP_005100;O95747;XP_005265695 Hs.475970 1646740;1657074;1672804;1710516;1735304;1850694;1857024;2108857;2121001;2166304;2175902 D3S2887E;D3S2942E;D3S3333;OSR1__5793.2;RH47460;SHGC-76839;SHGC-76840;SHGC-76846;SHGC-86285;T03494;WIAF-1617 KIAA1101;OSR1 OTTHUMP00000161719;OTTHUMP00000209062;oxidative stress-responsive 1 protein;oxidative-stress responsive 1;serine/threonine-protein kinase OSR1 APPROVED protein-coding ENSG00000172939 HGNC:8508 06809 604046 REVIEWED 7384596 P2RX5-TAX1BP3 P2RX5-TAX1BP3 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring P2RX5 (purinergic receptor P2X, ligand-gated ion channel, 5) and TAX1BP3 (Tax1 binding protein 3) genes on chromosome 17. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011] 17 17 p 3566187 3599698 - 3662893 3696404 - 6480464;8554872 20967262 100533970 AB209623;ABBA01054742;AC027796;AC132942;AMYH02032807;AMYH02032808;KF456229;KF459567;NR_037928 BAD92860 Hs.731607 1760259;1767337;1847322;5015879;5019046;5020948;5021369;7185938 D10S16;G35510;G43535;GDB:314949;L17796;RH78618;SHGC-132568;SHGC-36073 ncrna HGNC:49191 VALIDATED 736990 OXR1 oxidation resistance 1 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN adult walking behavior (inferred); cellular response to hydroperoxide (inferred); negative regulation of neuron apoptotic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); nucleolus (inferred); INTERACTS WITH (+)-catechin; 1-nitropyrene; 5-azacytidine 8 8 8 q23 103469771 103951905 + 107282406 107764922 + 106270178 106752694 + 1580863;6480464;8554872 11114193;12477932;12880961;14702039;15060142;15489334;16344560;17081983;17391516;17516841;20877624;22863883;22873401;22990118;8889548 55074 C9JY63;E5RFD1;E5RII8;E9PLW2;H0YC07;Q8N573 AB075503;ABBA01037683;ABBA01037684;ABBA01037685;ABBA01037686;ABBA01037687;ABBA01037688;ABBA01037689;ABBA01037690;AC023344;AC027031;AC090579;AF309387;AK000987;AK096148;AK098168;AK123667;AK124441;AK292899;AK296561;AK302844;AK303695;AK316153;AL833193;AMYH02018572;AMYH02018573;AMYH02018574;AMYH02018575;AMYH02018576;AP000430;AP002090;BC019691;BC032710;BC035484;BC040619;BM472225;BM668428;BM682193;CH471060;DA232248;DA544318;DC366184;DQ020202;FN650108;FN650109;KC877298;KC877307;KF458823;NM_001198532;NM_001198533;NM_001198534;NM_001198535;NM_018002;NM_181354;XM_005250993;XM_005250994;XM_005250995;XM_005250996;XM_006716594;XM_006716595;XM_006716596 AAG25715;AAH19691;AAH32710;AAY26396;ABM81826;ABM84979;BAA91456;BAC04711;BAC85852;BAE45753;BAF85588;BAH12388;BAH13819;BAH14021;BAH14524;CAI46186;CBI84064;CBI84065;EAW91903;EAW91904;EAW91905;NP_001185461;NP_001185462;NP_001185463;NP_001185464;NP_060472;NP_851999;Q8N573;XP_005251050;XP_005251051;XP_005251052;XP_005251053;XP_006716657;XP_006716658;XP_006716659 Hs.127286;Hs.701892 1338829;1339240;1357236;1670236;1682381;1689141;1697400;1701230;1719621;1729099;1748755;1750557;1764021;1786886;2116634;2137541;2163720;2176609;2190517;5037552 D8S1131;D8S1132;D8S1830;D8S2279;D8S446;EST14A2;G31477;GDB:314569;RH102200;RH104243;RH123715;RH25344;RH68257;SHGC-110387;SHGC-111864;SHGC-147677;SHGC-31183;SHGC-85774;Tagln2;WI-13576 FLJ10125;FLJ38829;FLJ40849;FLJ41673;FLJ42450;FLJ45656;Nbla00307;TLDC3 OTTHUMP00000209768;OTTHUMP00000209769;OTTHUMP00000209770;OTTHUMP00000227581;OTTHUMP00000227750;OTTHUMP00000229176;TBC/LysM-associated domain containing 3;oxidation resistance protein 1;putative protein product of Nbla00307 protein-coding ENSG00000164830 HGNC:15822 16126 605609 VALIDATED 737418 P2RX5 purinergic receptor P2X, ligand-gated ion channel, 5 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011] 17 17 17 p13.3 3590263 3611320 - 3575156 3599698 - 3673227 3696404 - 1580863;6480464;8554872 10673275;12270951;12477932;12665801;12787128;12880424;14702039;16322791;16967306;17001079;17207965;17895406;18719914;18976975;19074734;20223879;20962269;21092862;21963094;8619474;9110174;9414125 5026 B4DEG2;H0YHT9;H0YII8;K7EQ78;Q93086 AA805176;ABBA01054742;AC132942;AF016709;AF070573;AF168787;AK092966;AK290889;AK293610;AK307959;AMYH02032807;AMYH02032808;BC006220;BC008319;BC016917;BC028084;BC039015;BM477082;CH471108;DQ234349;DQ851492;KF456229;NM_001204519;NM_001204520;NM_002561;NM_175080;U49395;U49396 AAB08576;AAB08577;AAC28645;AAC51931;AAF43105;AAF43106;AAH39015;ABB29978;ABI31773;ADQ32997;BAF83578;BAG57073;EAW90482;EAW90483;EAW90484;EAW90485;EAW90486;EAW90487;EAW90488;NP_001191448;NP_001191449;NP_002552;NP_778255;Q93086 Hs.731607 1671494;1693498;1703224;2142017;2152703 SGC31971;SHGC-24369;SHGC-58334;STS-T52483;WI-20223 LRH-1;MGC47755;P2X5;P2X5R ATP receptor subunit;OTTHUMP00000115870;OTTHUMP00000241718;OTTHUMP00000241719;OTTHUMP00000241720;OTTHUMP00000241722;OTTHUMP00000241723;P2X purinoceptor 5;ionotropic ATP receptor P2X5;lymphoid-restricted histocompatibility antigen-1;purinergic receptor P2X ligand gated ion channel 5 APPROVED protein-coding ENSG00000083454 HGNC:8536 09110 602836 REVIEWED 736820 P2RX6 purinergic receptor P2X, ligand-gated ion channel, 6 The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009] 22 22 22 q11.21 4860745 4873604 + 21369442 21382302 + 21015153 21028013 + 1580863;6480464 10591208;11171941;12088286;12112843;12477932;15313628;15461802;15489334;15657042;16344560;17895406;17975119;18852390;19023099;19240061;21832049;22378790;8670303;9242461 9127 E7ES48;H7C140;H7C266;H7C2V4;O15547;Q05BG9;Q6P1Z3 AB002058;AB002059;ABBA01015432;AC002472;AF065385;AK309079;AMYH02038086;BC033488;BC047287;BC063553;BC064805;BC109209;BI753477;CH471176;CR456535;DA333742;NM_001159554;NM_005446;XM_005261819;XM_006724369;XM_006724370 AAF13303;AAH33488;AAH47287;AAH64805;AAI09210;BAA22046;BAA22047;CAG30421;CAK54566;CAK54865;EAX02910;EAX02911;EAX02912;EAX02913;EAX02914;NP_001153026;NP_005437;O15547;XP_005261876;XP_006724432;XP_006724433 Hs.113275 1674448;2125108;2218608 D22S1239;D22S548;SLC7A4__3865 MGC129625;P2RXL1;P2X6;P2XM ATP receptor;OTTHUMP00000198256;OTTHUMP00000198654;P2X purinoceptor 6;purinergic receptor P2X-like 1, orphan receptor;purinergic receptor p2x-like 1;purinoceptor P2X6;purinoreceptor P2X6;skeletal muscle-expressed P2X APPROVED protein-coding HGNC:8538 08490 608077 REVIEWED 2303847 P2RX6P purinergic receptor P2X, ligand-gated ion channel, 6 pseudogene 22 22 22 q11.21 4887983 4889840 - 21396681 21398538 - 21042392 21044249 - 6480464 15809229 440799 Q5BLP4 ABBA01015432;AC002472;AMYH02038086;AY947528;KF459854;NR_002829 AAX21789 Hs.640665 pseudo HGNC:34076 PROVISIONAL 733979 P2RX2 purinergic receptor P2X, ligand-gated ion channel, 2 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013] 12 12 12 q24.33 132895833 132898704 + 133195393 133198972 + 132618780 132622386 + 633343;1580863;6480464;7240710;8699517;8554872 7523952 10570044;10935636;12270951;12395104;12477932;14660627;15313628;15331767;15657042;17895406;18487206;18922787;19104511;19793987;20301607;20426799;20699225;21343285;21576497;21768526;22378790;22556417;22828800;23345450;23740251;23959888;24211385;24273165;7566120;9119082 22953 H0YGR7;Q32MC3;Q9UBL9 ABBA01012379;AC131212;AF109387;AF109388;AF190822;AF190823;AF190824;AF190825;AF190826;AF260426;AF260427;AF260428;AF260429;AMYH02027590;AY346374;BC109200;CH471218;NG_033909;NM_001282164;NM_001282165;NM_012226;NM_016318;NM_170682;NM_170683;NM_174872;NM_174873;XM_005266154;XM_005266155;XM_005266156 AAD42947;AAD42948;AAF19170;AAF19171;AAF19172;AAF19173;AAF19174;AAF74201;AAF74202;AAF74203;AAF74204;AAI09201;AAQ54329;EAW54835;EAW54836;EAW54837;EAW54838;EAW54839;EAW54840;NP_001269093;NP_001269094;NP_036358;NP_057402;NP_733782;NP_733783;NP_777361;NP_777362;Q9UBL9;XP_005266211;XP_005266212;XP_005266213 Hs.258580 2108337;2119607 G16012;P2RX2_8004 DFNA41;MGC129601;P2X2 ATP receptor;OTTHUMP00000237597;OTTHUMP00000237598;OTTHUMP00000237599;OTTHUMP00000237600;OTTHUMP00000237601;OTTHUMP00000237602;OTTHUMP00000237603;P2X Receptor, subunit 2;P2X purinoceptor 2;deafness, autosomal dominant 41 APPROVED protein-coding ENSG00000187848 HGNC:15459 15984 600844;608224 REVIEWED 736780 P2RX1 purinergic receptor P2X, ligand-gated ion channel, 1 The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013] 17 17 17 p13.3 3811697 3831765 - 3799885 3819960 - 3896591 3916666 - 1580811;1580863;6480464;7240710;8554872 12907444 10638758;10816552;11376948;11809854;11815371;11816716;12135734;12239162;12270951;12353081;12477932;12495655;12521992;12791671;14500714;14557870;14675100;14699168;15087444;15313628;15489334;15686781;16006561;16113781;16236030;16359770;16420578;16529657;16546137;16634759;16997281;17207965;17399929;17895406;18480058;18765669;19118095;19552691;19635923;19808895;20024498;20068232;20110693;20345709;20374431;20660288;20699225;21690089;21757694;21768526;22212928;22393010;22450808;22851178;22971236;23740251;23873636;23959888;23975903;2457808;24661878;8809107;8834001;9558372;9565569 5023 I3L3H3;P51575 A47363;ABBA01054750;AC005940;AF020498;AF078925;AF177472;AK313264;AMYH02032809;BC027949;BC044657;BX644575;CH471108;JX471560;NG_012109;NM_002558;U45448;X83688;XM_006721529;XR_243558 AAC24494;AAC32187;AAC50698;AAD55395;AAH27949;AAH44657;ADQ32985;AFU91505;BAG36073;CAA03057;CAA58657;EAW90471;EAW90472;EAW90473;NP_002549;P51575;XP_006721592 Hs.41735 1337971;1768437;1777379;2108335;2191597;5021704;7186985 D17S1828;MARC_26793-26794:1034271709:3;P2RX1_7847;STS-X83688;WI-17165;ksks291 P2X1 ATP receptor;P2X purinoceptor 1;P2X receptor, subunit 1;P2X1 receptor;purinergic receptor P2X1 APPROVED protein-coding ENSG00000108405 HGNC:8533 07526 600845 REVIEWED 735321 P2RX3 purinergic receptor P2X, ligand-gated ion channel, 3 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and may transduce ATP-evoked nociceptor activation. Mouse studies suggest that this receptor is important for peripheral pain responses, and also participates in pathways controlling urinary bladder volume reflexes. It is possible that the development of selective antagonists for this receptor may have a therapeutic potential in pain relief and in the treatment of disorders of urine storage. [provided by RefSeq, Jul 2008] 11 11 11 q12 54464979 54477411 + 57105841 57137549 + 57338367 57370076 + 1580863;6480464 11069162;12270951;12477932;12885270;14520770;15331767;15475563;17052768;17895406;18600577;18805451;19456993;19960242;20110693;20308565;20418063;20699225;21098022;22052556;22160848;22378790;22498660;22963434;23917247;23959888;24223907;7566110;7566120;9016352;9221902 5024 H0YDR6;P56373 AB016608;ABBA01021468;AMYH02024841;AMYH02024842;AP000781;BC069162;BC074792;BC074793;BC109287;CH471076;DB462670;KF511148;NM_002559 AAH69162;AAH74792;AAH74793;AAI09288;BAA76515;EAW73736;EAW73737;NP_002550;P56373 Hs.146738 1658684;1736997;1738119 D11S2735;D11S3743;D11S4401 MGC129956;P2X3 ATP receptor;OTTHUMP00000234771;P2X purinoceptor 3;P2X receptor, subunit 3;purinergic receptor P2X3;purinoceptor P2X3 APPROVED protein-coding ENSG00000109991 HGNC:8534 09016 600843 REVIEWED 732285 P2RX4 purinergic receptor P2X, ligand-gated ion channel, 4 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012] 12 12 12 q24.32 121285420 121309664 + 121647664 121671909 + 121209861 121234106 + 1642301;6480464 16497176 10515189;10899068;10969036;11299224;11606481;12088286;12270951;12477932;12714321;12819199;14978347;15006691;15130891;15167446;15262999;16533808;16949036;17197037;17264311;17785580;17895406;17897319;18487206;18635539;18678988;18852390;19056867;19226284;19283779;19552691;19562525;19913121;19953327;20628086;20660288;20699225;21106936;21768526;21808018;21899776;21988832;22068874;22219189;22528681;22753954;22837036;22988022;22996386;23086000;23138503;23303206;23434541;23936165;23959888;24817123;8125298;9016352;9221902 5025 B7Z1M5;B7Z4R5;F5GZQ9;F5H1M6;F5H2S3;H0YF70;Q99571 ABBA01020153;AC069209;AF000234;AF012903;AF191093;AK225604;AK293599;AK293660;AK297704;AK301080;AK308549;AK308868;AMYH02027391;AMYH02027392;AMYH02027393;BC017458;BC033826;BC035845;BT019738;BT019739;BX402887;CH471054;DQ851491;JF807485;JX471561;NM_001256796;NM_001261397;NM_001261398;NM_002560;NR_046372;NR_046373;U83993;U85971;U87270;XR_429105;Y07684 AAB58405;AAB66834;AAD00553;AAD00556;AAF06661;AAH33826;AAV38543;AAV38544;ABI31772;ABM81832;ABM84985;AEC23355;AFU91506;BAH11544;BAH11561;BAH12651;BAH13404;CAA68948;EAW98242;EAW98243;EAW98244;EAW98245;EAW98246;NP_001243725;NP_001248326;NP_001248327;NP_002551;Q99571 Hs.321709 1687331;2106827;2106829;2106831;2106833;2106835;2106837;2106839;2106841;2106843;2106847;2106849;2106853;2107479;2127037;2165057;5022450;5109281 A009Q17;D10S275;D1S1425;P2RX4_7848;PG4S01;PG4S02;PG4S0304;PG4S05;PG4S06;PG4S0910;PG4S1112;PG4S12;PG4S3UT01;PG4S5UT0106;PG4S5UT05;PG4S5UT0901;RH76377;STS-Y07684 P2X4;P2X4R ATP receptor;ATP-gated cation channel protein;OTTHUMP00000240228;OTTHUMP00000240229;OTTHUMP00000240233;P2X purinoceptor 4;P2X receptor, subunit 4;purinergic receptor P2X4;purinoceptor P2X4 2289606 BW476_H APPROVED protein-coding ENSG00000135124 HGNC:8535 09017 600846 REVIEWED 736104 P2RY1 purinergic receptor P2Y, G-protein coupled, 1 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008] 3 3 3 q25.2 150971424 150974533 + 152552736 152555845 + 152834947 152838056 + 1580863;2315811;2315809;6480464;8554872 19115395;19303093 11159687;11390975;11578839;11690642;11904146;12147294;12393588;12477932;12603858;12623443;12787128;12871508;12880424;14644082;14742685;15099288;15187029;15203713;15284110;15489334;15496502;15509659;15514209;15590415;15602005;15665114;16267125;16546137;16581111;16634769;16741950;16804093;16848759;17095747;17559347;17824841;18057028;18174464;18240029;18270199;18310463;18500760;18502966;18577758;18799799;19132198;19637098;19740098;19913121;19934793;20056178;20063989;20070609;20192270;20473398;20586915;20628086;20847060;21210088;21632028;21643756;22052557;22079667;22249129;22250198;22450808;22574824;22610502;22701645;22721490;22916275;23326583;23828624;23849096;23951072;24071464;24524250;25003238;8579591;8630005;8666290;9038354;9039850;9268704;9442040;9671706 5028 P47900 ABBA01058888;AC013251;AF018284;AJ006945;AMYH02007918;AY136752;BC074784;BC074785;CH471052;NG_032896;NM_002563;S81950;U42029;U42030;Z49205 AAA97872;AAA97873;AAB47091;AAB94556;AAH74784;AAH74785;AAN01278;CAA07339;CAA89066;EAW78773;NP_002554;P47900 Hs.654526 1777482;1777840;1792692;1794668;1794670;2107481;5492651 P2RY1_7850;PMC156657P1;PMC34459P1;PMC34459P2;SGC35403;SHGC-77461;UniSTS:481903 P2Y1 ATP receptor;OTTHUMP00000216247;P2 purinoceptor subtype Y1;P2Y purinoceptor 1;platelet ADP receptor APPROVED protein-coding ENSG00000169860 HGNC:8539 03103 601167 REVIEWED 5684195 P2RY10P2 purinergic receptor P2Y, G-protein coupled, 10 pseudogene 2 X X X q21.1 78580875 78581199 + 78340425 78341484 + 79084928 79085987 + 449518 ABBA01030169;AL356461;AMYH02039833;AX646929;NG_004704 pseudo HGNC:32924 VALIDATED 1343009 P2RY10 purinergic receptor P2Y, G-protein coupled, 10 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. Two alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] X X X q21.1 78441146 78457754 + 78200829 78219224 + 78945332 78963727 + 1580863;6480464;8554872 10570953;11004484;12477932;15489334;15772651;16754659;18240029;18466763;18577758;24602016;9755289 27334 O00398 ABBA01030151;ABBA01030152;AF000545;AK292138;AK313218;AMYH02039831;AW294346;AY275461;BC051875;BC095498;CD639881;CH471104;KF459169;NG_013276;NM_014499;NM_198333;XM_005262124;XM_005262125;Z82200 AAB57836;AAH51875;AAH95498;AAP32293;BAF84827;EAW98594;EAW98595;NP_055314;NP_938147;O00398;XP_005262181;XP_005262182 Hs.296433 1334595;2109617 DXS1225;P2RY10_9549 LYPSR2;P2Y10 G-protein coupled purinergic receptor P2Y10;OTTHUMP00000023599;P2Y purinoceptor 10;P2Y-like receptor;putative P2Y purinoceptor 10 APPROVED protein-coding ENSG00000078589 HGNC:19906 06670 300529 REVIEWED 1346111 P2RY11 purinergic receptor P2Y, G-protein coupled, 11 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 10117688 10121556 + 10222197 10226065 + 10111521 10115389 + 1580863;6480464 10947861;11278528;11690642;12036966;12077223;12477932;15489334;16754659;16926152;17135283;17338680;17707504;17824841;18048695;18056402;18726826;20668227;20964598;21170044;22052557;22177342;23461851;23577075;24524250;24588705;7566098;9405388 5032 Q96G91 AA310412;ABBA01029947;AC020931;AF498921;AJ298334;AK313550;AMYH02035484;AY449733;BC009877;BC073827;CH471106;NM_002566 AAH73827;AAM18130;AAR18077;BAG36326;CAC29362;EAW84077;NP_002557;Q96G91 Hs.14468 1739175;5127747 D13S1132;RH78956 P2Y11 OTTHUMP00000196510;P2Y purinoceptor 11;P2Y11 receptor;purinergic receptor P2Y11 APPROVED protein-coding ENSG00000244165 HGNC:8540 04076 602697 REVIEWED 1602708 P2RY13 purinergic receptor P2Y, G-protein coupled, 13 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is activated by ADP. [provided by RefSeq, Sep 2008] 3 3 3 q24 149456806 149460047 - 151044096 151047337 - 151326308 151329549 - 6480464 11273702;11546776;11574155;11961076;12044878;12477932;16344560;18240029;18577758;19913121;20628086;22250198 53829 Q9BPV8 AB083597;ABBA01058910;AC024886;AF178982;AF295368;AF345565;AF406692;AF411113;AK313208;AMYH02007900;BC029363;BC041116;BC066887;CH471052;CS173029;DA676457;NG_021244;NM_176894;XM_006713664 AAH29363;AAH41116;AAH66887;AAK01864;AAK18752;AAK29068;AAL01038;AAL26484;BAB89310;BAG36024;CAJ33696;EAW78805;EAW78806;EAW78807;NP_795713;Q9BPV8;XP_006713727 Hs.546396 1686780;2106483;2187575 D3S4238;GPR86_4097;RH91840 FKSG77;GPCR1;GPR86;GPR94;P2Y13;SP174 G protein-coupled receptor 86;G-protein coupled receptor 86;G-protein coupled receptor 94;OTTHUMP00000208577;P2Y purinoceptor 13 APPROVED protein-coding ENSG00000181631 HGNC:4537 16210 606380 REVIEWED 1347256 P2RY14 purinergic receptor P2Y, G-protein coupled, 14 The product of this gene belongs to the family of G-protein coupled receptors, which contains several receptor subtypes with different pharmacological selectivity for various adenosine and uridine nucleotides. This receptor is a P2Y purinergic receptor for UDP-glucose and other UDP-sugars coupled to G-proteins. It has been implicated in extending the known immune system functions of P2Y receptors by participating in the regulation of the stem cell compartment, and it may also play a role in neuroimmune function. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q24-q25.1 149342683 149409005 - 150929905 150996996 - 151212117 151279208 - 1580863;6480464;8554872 10704288;10753868;11273702;11524702;12369950;12477932;12559763;12695547;12842911;12902497;14559350;15481977;15489334;15829433;16109883;16257449;16263727;16475938;16820147;17016747;17088057;18240029;18577758;18690346;19454705;22673622;23333304;23592514;2834384;7584026;7584028;8011297;9295203 9934 A5JUU3;C9JAB5;Q15391 ABBA01058911;ABBA01058912;ABBA01058913;AC078816;AF456925;AK289617;AMYH02007898;AMYH02007899;BC034989;CD110153;CH471052;CS173021;D13626;EF577400;NG_021244;NM_001081455;NM_014879;XM_005247921;XM_005247922;XM_005247923;XM_006713832 AAH34989;AAL47764;ABQ52420;BAA02791;BAF82306;CAJ33692;EAW78809;EAW78810;NP_001074924;NP_055694;Q15391;XP_005247978;XP_005247979;XP_005247980;XP_006713895 Hs.2465 1337856;1655063;1729395;1773219;1793096;2121281;2127857 D3S3625;D3S3882;G54361;PMC196132P2;RH25242;SHGC-44399;STS-D13626 BPR105;GPR105;KIAA0001;P2Y14 G protein coupled receptor for UDP-glucose;G protein-coupled receptor 105;G-protein coupled receptor 105;OTTHUMP00000216778;OTTHUMP00000216779;OTTHUMP00000216780;P2Y purinoceptor 14;P2Y(14) receptor;P2Y14 receptor;UDP-glucose receptor APPROVED protein-coding ENSG00000174944 HGNC:16442 08820 610116 REVIEWED 1354000 P2RY12 purinergic receptor P2Y, G-protein coupled, 12 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 3 q24-q25 149468086 149515254 - 151054631 151102600 - 151336843 151384812 - 633493;1580186;1580863;1580187;1580188;1580189;6480524;6480522;6480523;6480526;6480528;6480647;6480535;6480645;6480518;6480536;6480537;6480525;6480532;6480533;6480464;6482301;7240710;8554872;8699517 11196645;12897207;14662702;15304052;15483100;15933261;16194207;19028049;19295309;19692114;19822647;20136836;20398327;20431845;20665560;21652673;21841533;22010907;22028806;22483567 11104774;11502870;11502873;12044878;12080041;12477932;12560222;12578987;12606772;12623443;12668663;12912815;14644082;14645014;14717977;15099288;15142872;15187029;15203713;15284110;15464998;15489334;15514209;15602005;15665114;15795539;15869601;15886804;15968399;16181985;16185654;16236603;16344560;16405973;16581111;16769602;16804093;16837456;16840732;17127487;17337040;17707382;17803810;17995973;18004210;18175333;18213371;18240029;18278193;18485500;18577758;18577829;18726826;18755689;18787507;18800613;18836720;19012950;19056482;19106083;19132197;19229056;19237732;19334620;19525944;19530321;19531897;19552634;19576320;19578796;19740098;19783848;19913121;19914687;20031628;20063989;20068232;20126830;20162250;20379614;20473398;20492465;20589315;20599922;20628086;20630458;20691446;20695985;20873239;20930120;20966167;21071695;21153923;21216445;21231822;21497813;21524751;21937696;22079667;22159428;22273509;22275393;22440490;22528678;22574824;22610101;22647518;22652599;22701645;22704077;22721490;22740070;22746349;22916275;23054651;23140172;23299202;23314576;23387322;23506580;23568163;23612493;23751441;23751603;23844259;23849096;23850619;23940995;24047499;24071464;24437181;24670650;24723492;24747445;24784220;8554519 64805 A8K7T1;B4E183;Q9H244 AA810452;AB052684;AB083596;ABBA01058909;AC024886;AF310685;AF313449;AF321815;AJ320495;AK292096;AK303714;AK316575;AMYH02007900;AW015793;AW976204;AY136754;BC017898;BM926255;CH471052;DA179496;DA267276;DA343254;DB306976;DC313627;NG_016019;NG_021244;NM_022788;NM_176876 AAG48944;AAH17898;AAK00948;AAL32292;AAN01280;ABM84112;ABM87505;BAB60824;BAB89309;BAF84785;BAG38164;BAG64695;CAC87144;EAW78803;EAW78804;NP_073625;NP_795345;Q9H244 Hs.591281;Hs.665544 1729373;2113728;2219420 AB062981;G54348;P2RY12__5801 ADPG-R;BDPLT8;HORK3;P2T(AC);P2Y(12)R;P2Y(AC);P2Y(ADP);P2Y(cyc);P2Y12;SP1999 ADP-glucose receptor;G-protein coupled receptor SP1999;Gi-coupled ADP receptor HORK3;OTTHUMP00000216783;P2Y purinoceptor 12;P2Y12 platelet ADP receptor;purinergic receptor P2RY12;putative G-protein coupled receptor APPROVED protein-coding HGNC:18124 02743 600515;609821 REVIEWED 731552 P2RY4 pyrimidinergic receptor P2Y, G-protein coupled, 4 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to uridine nucleotides, partially responsive to ATP, and not responsive to ADP. [provided by RefSeq, Jul 2008] X X X q13 69831353 69832991 - 69478016 69479654 - 70258166 70259804 - 1580863;6480464 11114308;11290369;11690642;12130504;12477932;12603858;12623123;14670966;15489334;15649700;15772651;18240029;18577758;21219331;22052557;22776902;22797925;25003238;8537335;8537336;8617367;8700127;9268704;9535005 5030 P51582 ABBA01067551;AL357752;AMYH02039655;BC095503;BC096067;BC096068;BC096069;BC096070;CH471132;CQ859820;NG_013250;NM_002565;U40223;X91852;X96597 AAC50347;AAH95503;AAH96067;AAH96068;AAH96069;AAH96070;CAA62963;CAA65415;CAH25959;EAX05352;NP_002556;P51582 Hs.673854 1661785;1795072;1849733;2219422;5492489;5493025 P2RY4__5802;PMC96855P2;RH47039;RH70627;UniSTS:481244;UniSTS:483845 NRU;P2P;P2Y4;UNR OTTHUMP00000023468;P2Y purinoceptor 4;uridine nucleotide receptor APPROVED protein-coding ENSG00000186912 HGNC:8542 02075 300038 REVIEWED 1352486 P2RY2 purinergic receptor P2Y, G-protein coupled, 2 The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, found on many cell types, is activated by ATP and UTP and is reported to be overexpressed on some cancer cell types. It is involved in many cellular functions, such as proliferation, apoptosis and inflammation. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Mar 2013] 11 11 11 q13.5-q14.1 70233951 70251998 + 72928735 72953472 + 73217669 73242427 + 1580863;2315809;2316687;6480464;8554872 15687250;19303093 10770202;11331301;11690642;12477932;12603858;12691958;12714597;12787128;12880424;14613890;14645014;14670955;14702039;15175347;15489334;15590415;15778502;15908695;16186116;16311903;16495779;16543499;16545868;16741950;16754659;17137217;17170310;17186500;17302398;17452627;17599409;17609252;18240029;18434089;18475022;18506388;18568944;18577758;19118095;19419204;19634190;19710694;19734210;19735076;19763137;19797825;19808895;19836435;19900397;19913121;19996104;20022380;20056178;20064929;20089844;20427708;20628086;20630102;20880147;21356271;21414662;21651910;21652710;21832049;21859844;21890473;22521508;22718344;22753942;22754043;22773251;22993317;23088987;23462325;23517042;23757023;23810565;24095926;24390819;24491917;24961145;25003238;7779087;7809171;8159738;8248130;8643996;9211988;9286708;9489506;9535005 5029 P41231 ABBA01017524;AK094727;AK313942;AMYH02025083;AMYH02025084;AP002761;AY136753;BC012104;BC028135;BX641058;CH471076;FJ599699;FJ599700;HG503966;NM_002564;NM_176071;NM_176072;U07225;XM_005274019;XM_005274020;XM_005274021 AAC04923;AAH12104;AAH28135;AAN01279;ABM83184;ABM86386;ACS66693;ACS66694;BAG36660;EAW74882;EAW74883;EAW74884;NP_002555;NP_788085;NP_788086;P41231;XP_005274076;XP_005274077;XP_005274078 Hs.339;Hs.572077 1792694;1795070;2134624 D11S4331;PMC156657P2;PMC96855P1 HP2U;MGC20088;MGC40010;P2RU1;P2U;P2U1;P2UR;P2Y2;P2Y2R;RP11-800A3.4 ATP receptor;OTTHUMP00000237494;OTTHUMP00000237495;OTTHUMP00000237496;P2U nucleotide receptor;P2U purinoceptor 1;P2U receptor 1;P2Y purinoceptor 2;purinergic receptor P2Y2;purinoceptor P2Y2 APPROVED protein-coding ENSG00000175591 HGNC:8541 02499 600041 REVIEWED 1350225 P2RY8 purinergic receptor P2Y, G-protein coupled, 8 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y. [provided by RefSeq, Jul 2008] X X;Y X;Y p22.33; Yp11.3 5862467 5935015 - 1581465 1656037 - 1462572 1537144 - 1580863;6480464 11004484;12477932;14702039;15466006;15489334;15772651;17487742;17554380;20378752;21890473;22484421;22505724;23091296 286530 Q86VZ1 ABBA01055717;ABBA01055718;ABBA01055719;ABBA01055720;ABBA01055721;ABBA01055722;ABBA01055723;ABBA01055724;AI476104;AI494365;AK092956;AL683870;AL691415;AL833184;AMYH02038685;AMYH02038686;AMYH02038687;AMYH02038688;AMYH02038689;BC012792;BC043610;BE245848;CH471074;NG_013252;NM_178129;XM_005274429;XM_005274430;XM_005274778;XM_005274779;XM_006724443;XM_006724864 AAH43610;EAW98683;NP_835230;Q86VZ1;XP_005274486;XP_005274487;XP_005274835;XP_005274836;XP_006724506;XP_006724927 Hs.111377 1651986;1702810;1730779;1748461;2158852;5127327;7184745 DXYS139;DXYS140;DXYS141;GDB:312946;L77270;SHGC-64134 MGC50878;P2Y8 G-protein coupled purinergic receptor P2Y8;OTTHUMP00000022830;P2Y purinoceptor 8 APPROVED protein-coding ENSG00000182162 HGNC:15524 06671 300525 REVIEWED 1346978 P4HA3 prolyl 4-hydroxylase, alpha polypeptide III This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 11 11 11 q13.4 71284495 71329490 - 73958532 74022699 - 74247370 74311676 - 731224;1580863;6480464;6907045;8554872 14500733 12477932;12874193;16885164;20379614;24722188 283208 E9PM97;H0YCC3;Q7Z4N8 ABBA01017493;AK300598;AL833965;AMYH02025104;AP000577;AP001085;AY313448;AY327887;AY358521;BC040582;BC089446;BC117333;BC126170;CH471076;HY004548;HY188166;NM_001288748;NM_182904;NR_110031;XM_005273924;XR_247196 AAH89446;AAI17334;AAI26171;AAP97874;AAQ87603;AAQ88885;BAG62295;CAI46215;EAW74934;EAW74935;EAW74936;NP_001275677;NP_878907;Q7Z4N8;XP_005273981 Hs.660541 4-PH alpha-3;C-P4H alpha III;OTTHUMP00000229096;OTTHUMP00000229098;collagen prolyl 4-hydroxylase alpha(III);procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III;procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-3;prolyl 4-hydroxylase subunit alpha-3 APPROVED protein-coding ENSG00000149380 HGNC:30135 16413 608987 REVIEWED 731788 P4HA1 prolyl 4-hydroxylase, alpha polypeptide I This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 10 10 10 q21.3-q23.1 68052119 68141888 - 74766975 74856732 - 73007217 73096974 - 1580863;6480464;6907045 12477932;15028279;15164054;15369792;15489334;16344560;16385451;16464861;16488890;16837461;16877351;16885164;17110338;17314511;17500595;18029348;18457437;19322201;19890397;19928837;19946888;20305087;20379614;21139048;21145461;21903422;23022409;23178710;23246001;23423382;23752268;24250222;24550385;24816145;25036637;2543975;2556027;7961714;8125298;9211872;9417920 5033 P13674;Q5VSQ6 AA780802;ABBA01020340;ABBA01020341;ABBA01020342;ABBA01020343;ABBA01020344;AI061083;AK222960;AK312593;AL702003;AL731563;AMYH02023328;AMYH02023329;AMYH02023330;AMYH02023331;BC034998;CD013929;CD013930;CH471083;DB030709;JC258719;JC303358;M24486;M24487;NM_000917;NM_001017962;NM_001142595;NM_001142596;U14620 AAA36534;AAA36535;AAA59068;AAA59069;AAH34998;ABM82595;ABM85781;BAD96680;CDM55387;CDM55568;EAW54467;EAW54468;EAW54469;EAW54470;NP_000908;NP_001017962;NP_001136067;NP_001136068;P13674 Hs.500047;Hs.593005 1656608;1745629;1848625;2109619;2161935 D10S2287;GDB:626407;P4HA1__7042;RH17681;RH78867 P4HA C-P4Halpha(I);OTTHUMP00000019793;OTTHUMP00000019794;collagen prolyl 4-hydroxylase alpha(I);procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I;procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1;prolyl 4-hydroxylase subunit alpha-1 APPROVED protein-coding ENSG00000122884 HGNC:8546 08901 176710 REVIEWED 5686926 P4HA2-AS1 P4HA2 antisense RNA 1 5 q31.1 132184876 132192805 + 100861518 ABBA01068813;AC063976;AMYH02012211;BG772701;HG498473;NR_047470 Hs.519568 1661869;1996618;2170470 REN69219;RH47156;WI-14188 AC063976.4 APPROVED ncrna ENSG00000237714 HGNC:43560 VALIDATED 1320142 P4HA2 prolyl 4-hydroxylase, alpha polypeptide II This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 5 5 5 q31 127658410 127693660 - 131528299 131563556 - 132192610 132227863 - 1580863;6480464;6907045;8554872 11606192;12477932;12824157;14500733;14667819;15489334;16344560;16877351;16885164;16917063;17213842;18457437;19131452;19615732;20000738;20628624;21139048;21859152;21890473;21906983;21963094;21987572;22190034;22412388;22813596;23000965;23423382;24383403;25036637;7753822;9211872 8974 A8MXE0;C9JCP0;C9JFJ1;C9JIG4;C9JN43;C9JX45;E7ENX0;E7EPI9;E7ERI1;O15460;Q05DA4 ABBA01068811;ABBA01068812;ABBA01068813;AC034220;AC063976;AJ314859;AMYH02012211;AMYH02012212;AMYH02012213;AMYH02012214;AU117989;AY358970;BC017062;BC025960;BC035813;BI758477;BX647924;CH471062;DA544450;NM_001017973;NM_001017974;NM_001142598;NM_001142599;NM_004199;U90441;XM_005272116;XM_005272117;XM_005272118;XM_005272119;XM_005272120;XM_005272122;XM_006714728;XM_006714729;XM_006714730;XM_006714731 AAB71339;AAH17062;AAH35813;AAQ89329;ABM83357;ABW03320;CAC85688;CAC85689;CAI46066;EAW62341;EAW62342;EAW62343;EAW62344;EAW62345;EAW62346;EAW62347;EAW62348;NP_001017973;NP_001017974;NP_001136070;NP_001136071;NP_004190;O15460;XP_005272173;XP_005272174;XP_005272175;XP_005272176;XP_005272177;XP_005272179;XP_006714791;XP_006714792;XP_006714793;XP_006714794 Hs.519568 1661869;1780510;1799430;1800084;1800140;1800180;1800242;1800544;1800842;1801064;1801116;1801312;1808314;1809954;1810602;1810756;1811208;1811436;1812150;1812228;1812720;1812790;1813070;1814116;1814416;1814672;1815470;1815612;1816364;1816684;1816972;1817136;1817910;1825326;1825424;1828130;1830050;1838092;1838352;1838918;1839844;1996616;1996618;1996620;1996622;1996624;1996626;1996628;1996630;1996632;1996634;1996636;1996638;1996640;1996642;1996644;1996646;1996648;1996650;1996652;1996654;1996656;1996658;1996660;1996662;1996664;1996666;1996668;1996670;1996672;1996674;1996676;1996678;1996680;1996682;1996684;1996686;1996688;1996690;1996692;1996694;1996696;1996698;1996700;1996702;1996704;1996706;1996708;1996710;1996712;1996714;1996716;1996718;1996720;1996722;1996724;1996726;1996728;1996730;1996732;1996734;1996736;1996738;1996740;1996742;1996744;1996746;1996748;1996750;1996752;1996754;1996756;1996758;1996760;1996762;1996764;1996766;1996768;1996770;1996772;1996774;1996776;1996778;1996780;1996782;1996784;1996786;1996788;1996790;1996792;1996794;1996796;1996798;1996800;1996802;1996804;1996806;1996808;1996810;1996812;1996814;1996816;1996818;1996820;1996822;1996824;1996826;1996828;1996830;1996832;1996834;1996836;1996838;1996840;1996842;1996844;1996846;1996848;1996850;1996852;1996854;1996856;1996858;1996860;1996862;1996864;1996866;1996868;1996870;1996872;1996874;1996876;1996878;1996880;1996882;1996884;1996886;1996888;1996890;1996892;1996894;1996896;1996898;1996900;1996902;1996904;1996906;1996908;1996910;1996912;1996914;1996916;1996918;1996920;1996922;1996924;1996926;1996928;1996930;1996932;1996934;1996936;1996938;1996940;1996942;1996944;1996946;2095714;2095716;2095718;2095720;2095722;2095724;2095726;2095728;2095730;2095732;2095734;2095736;2095738;2095740;2095742;2095744;2095746;2095748;2095750;2095752;2095754;2095756;2095758;2095760;2095762;2095764;2095766;2130098;2163722;2170470;2219424 ECD00566;ECD00897;ECD00926;ECD00947;ECD00979;ECD01132;ECD01284;ECD01400;ECD01427;ECD01528;ECD05138;ECD05969;ECD06294;ECD06373;ECD06602;ECD06716;ECD07080;ECD07121;ECD07371;ECD07406;ECD07554;ECD08087;ECD08237;ECD08366;ECD08771;ECD08843;ECD09224;ECD09385;ECD09535;ECD09618;ECD10009;ECD13769;ECD13819;ECD15188;ECD16158;ECD20217;ECD20350;ECD20638;ECD21105;P4HA2__5805;REN69218;REN69219;REN69220;REN69221;REN69222;REN69223;REN69224;REN69225;REN69226;REN69227;REN69228;REN69229;REN69230;REN69231;REN69232;REN69233;REN69234;REN69235;REN69236;REN69237;REN69238;REN69239;REN69240;REN69241;REN69242;REN69243;REN69244;REN69245;REN69246;REN69247;REN69248;REN69249;REN69250;REN69251;REN69252;REN69253;REN69254;REN69255;REN69256;REN69257;REN69258;REN69259;REN69260;REN69261;REN69262;REN69263;REN69264;REN69265;REN69266;REN69267;REN69268;REN69269;REN69270;REN69271;REN69272;REN69273;REN69274;REN69275;REN69276;REN69277;REN69278;REN69279;REN69280;REN69281;REN69282;REN69283;REN69284;REN69285;REN69286;REN69287;REN69288;REN69289;REN69290;REN69291;REN69292;REN69293;REN69294;REN69295;REN69296;REN69297;REN69298;REN69299;REN69300;REN69301;REN69302;REN69303;REN69304;REN69305;REN69306;REN69307;REN69308;REN69309;REN69310;REN69311;REN69312;REN69313;REN69314;REN69315;REN69316;REN69317;REN69318;REN69319;REN69320;REN69321;REN69322;REN69323;REN69324;REN69325;REN69326;REN69327;REN69328;REN69329;REN69330;REN69331;REN69332;REN69333;REN69334;REN69335;REN69336;REN69337;REN69338;REN69339;REN69340;REN69341;REN69342;REN69343;REN69344;REN69345;REN69346;REN69347;REN69348;REN69349;REN69350;REN69351;REN69352;REN69353;REN69354;REN69355;REN69356;REN69357;REN69358;REN69359;REN69360;REN69361;REN69362;REN69363;REN69364;REN69365;REN69366;REN69367;REN69368;REN69369;REN69370;REN69371;REN69372;REN69373;REN69374;REN69375;REN69376;REN69377;REN69378;REN69379;REN69380;REN69381;REN69382;REN69383;RH18238;RH18422;RH47156;WI-14188;bac5078S;stSG601097;stSG601098;stSG601099;stSG601100;stSG601101;stSG601102;stSG601103;stSG601104;stSG601105;stSG601106;stSG601107;stSG601108;stSG601110;stSG601111;stSG601112;stSG601113;stSG601114;stSG601115;stSG601116;stSG601117;stSG601118;stSG601119;stSG601120;stSG601121;stSG601122;stSG601123;stSG601124 4-PH alpha 2;4-PH alpha-2;C-P4Halpha(II);OTTHUMP00000065966;OTTHUMP00000065967;OTTHUMP00000065968;OTTHUMP00000065969;collagen prolyl 4-hydroxylase alpha(II);procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II;procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2;prolyl 4-hydroxylase subunit alpha-2 APPROVED protein-coding ENSG00000072682 HGNC:8547 11862 600608 REVIEWED 1348998 PA2G4P1 proliferation-associated 2G4 pseudogene 1 X X X q24 120466517 120468134 - 120002187 120003804 - 120868333 120869950 - 9345902;9847074 389884 ABBA01036074;AC008162;AMYH02040367;NG_005879 PA2G4P APPROVED pseudo HGNC:8551 INFERRED 736435 P2RY6 pyrimidinergic receptor P2Y, G-protein coupled, 6 The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, which is a G-protein coupled receptor, is responsive to UDP, partially responsive to UTP and ADP, and not responsive to ATP. It is proposed that this receptor mediates inflammatory responses. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013] 11 11 11 q13.5 70280653 70314752 + 72975550 73009670 + 73264505 73298625 + 1580863;6480464 11114308;11690642;11788430;12464620;12477932;12623123;12691958;12716436;15489334;15498874;15796906;16322472;16543499;16754659;17762175;17971163;18240029;18250478;19008857;19011163;19124756;19735076;20379614;21173118;21268712;21388279;21724990;21898410;21963094;22102722;22249129;22558990;23723068;8670200;8700127;9268704;9286708;9412455;9542531 5031 F5GX90;F5GYF3;F5H7H9;Q15077 ABBA01017522;AF007891;AF007892;AF007893;AF218005;AF498920;AL520218;AL525099;AMYH02025086;AP002761;AX775903;BC000571;BC009391;BQ718871;BT006771;BX337204;BX381745;BX397649;CH471076;DR004482;DR006998;HY271000;NM_001277204;NM_001277205;NM_001277206;NM_001277207;NM_001277208;NM_176796;NM_176797;NM_176798;U52464;X97058;XM_005274022;XM_005274023;XM_006718571 AAB03572;AAB80712;AAB80713;AAG17247;AAH00571;AAH09391;AAM18129;AAP35417;ABM81686;ABM84534;ABM86072;CAA65770;CAE11651;EAW74886;EAW74887;EAW74888;EAW74889;EAW74890;NP_001264133;NP_001264134;NP_001264135;NP_001264136;NP_001264137;NP_789766;NP_789767;NP_789768;Q15077;XP_005274079;XP_005274080;XP_006718634 Hs.16362 1674826;1782346;1782358;1792696;2165063;2179744 D11S353;PMC156657P3;RH18466;RH45448;SHGC-145961;SHGC-149374 MGC15335;P2Y6 G-coupled nucleotide receptor;OTTHUMP00000237497;OTTHUMP00000237500;OTTHUMP00000237501;OTTHUMP00000237502;OTTHUMP00000237504;OTTHUMP00000237505;OTTHUMP00000237506;P2 purinoceptor;P2Y purinoceptor 6;P2Y6 receptor APPROVED protein-coding ENSG00000171631 HGNC:8543 03906 602451 REVIEWED 1604410 PA2G4P4 proliferation-associated 2G4 pseudogene 4 3 3 3 q25.31 154950637 154953387 - 156527060 156529810 - 156809271 156812021 - 9345902 647033 ABBA01058837;AC106708;AK025367;AMYH02007975;NR_003284 Hs.745109 1682605;1685688;1791272 MARC_9801-9802:996688619:1;RH48706;RH79880 PA2G4L1 pseudo HGNC:32217 PROVISIONAL 1605750 PA2G4P3 proliferation-associated 2G4 pseudogene 3 18 18 18 q11.2 21842608 21844186 - 25032202 25033780 - 27452238 27453816 - 9345902 619212 ABBA01022560;AC068408;AMYH02034467;NG_005881 HsT2542;PA2G4L4 pseudo HGNC:31731 INFERRED 733481 P4HB prolyl 4-hydroxylase, beta polypeptide This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008] 17 17 17 q25 76404498 76422010 - 79801034 79818566 - 81843158 81860668 - 1580863;6480464;6907045;8699517;8554872 10329688;10383197;10436013;10636893;11181151;11257307;11707400;11790298;11847130;12095988;12218051;12218052;12475965;12477932;12485997;12493773;12643545;12665801;1286669;12874193;1339453;14500733;14592831;14702039;14718574;14871477;15146195;15158710;15231747;15308636;15324660;15358778;15489334;15590633;1559965;15611098;15644496;15695804;15952740;1597478;16169070;16303743;16344560;1667665;1677563;16847061;1699755;17055437;17081065;17301129;17353931;17620599;18029348;18781797;19199708;19471022;19890397;19913121;20000738;20360068;20458450;20628086;20668226;2079031;21081666;21139048;21145461;21299467;21319273;21373848;21693764;21890473;21906983;21963094;21988832;22079093;22174317;22190034;22268729;22304920;22337587;22536838;22586326;22863883;22936677;22939629;23000965;23141538;23206338;23246001;23337974;23444257;23824909;23862649;23874603;23956138;24244333;24250222;24457600;24583282;24778252;24816145;2846539;3032969;3034602;3342239;3467900;3611107;7753822;8111381;8580850;8672469;9150948;9399589 5034 B3KTQ9;B4DUA5;F5H8J2;H0Y3Z3;H7BZ94;I3L0S0;I3L1Y5;I3L312;I3L398;I3L3P5;I3L3U6;I3L4M2;I3L514;I3NI03;P07237 AB062434;ABBA01019648;AC145207;AC174470;AK075503;AK095938;AK128783;AK296206;AK297081;AK297967;AK298005;AK300561;AK308600;AK315631;AMYH02034139;AMYH02034140;AU131354;BC010859;BC014504;BC018801;BC029617;BC071892;BX353203;CA412209;CH471099;DB466371;J02783;JC258721;JC303360;M22806;NM_000918;S37207;X05130;X07077 AAA61169;AAB22262;AAC13652;AAH10859;AAH14504;AAH29617;AAH71892;ADZ15421;BAB93497;BAG37999;BAG53171;BAG54732;BAG58932;BAG59598;BAG60277;BAG60311;BAG62267;CAA28775;CAA30112;CDM55388;CDM55569;EAW89690;EAW89691;EAW89692;EAW89693;EAW89694;EAW89695;EAW89696;NP_000909;P07237 Hs.464336 1690240;1741209;1741379;1743141;2185511;5491396;5491613 GDB:178579;GDB:180947;GDB:271296;MARC_24372-24373:1030120998:1;P4HB;RH47036;RH80067 DSI;ERBA2L;GIT;P4Hbeta;PDI;PDIA1;PHDB;PO4DB;PO4HB;PROHB;p55 OTTHUMP00000196834;cellular thyroid hormone-binding protein;collagen prolyl 4-hydroxylase beta;glutathione-insulin transhydrogenase;procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide;prolyl 4-hydroxylase subunit beta;protein disulfide isomerase family A, member 1;protein disulfide isomerase-associated 1;protein disulfide isomerase/oxidoreductase;protein disulfide-isomerase;protocollagen hydroxylase;thyroid hormone-binding protein p55;v-erb-a avian erythroblastic leukemia viral oncogene homolog 2-like APPROVED protein-coding ENSG00000185624 HGNC:8548 07181 176790 REVIEWED 1604918 PA2G4P5 proliferation-associated 2G4 pseudogene 5 6 6 6 q21 113678301 113680502 - 112936892 112939232 - 112615690 112618030 - 9345902 389424 ABBA01026077;AL357514;AL358942;AMYH02014313;NG_005878 PA2G4L2 pseudo HGNC:32218 INFERRED 1354307 PA2G4 proliferation-associated 2G4, 38kDa This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytoplasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, have been identified. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 56150290 56159843 + 56498103 56507694 + 56104319 56113910 + 1580863;6480464;8554872 10608806;10682683;10797306;11268000;11325528;11708806;11790298;12165860;12429849;12477932;12682367;15064750;15073182;15231747;15489334;15583694;15635413;15896331;15994225;16236267;16254079;16396631;16631606;16642037;16832058;16964243;17081983;17295834;17316401;17353931;17641068;17765895;17768350;17951246;18029348;18337751;18355957;18781797;18850631;18852121;19037095;19615732;19738201;19946338;19946888;20048076;20211142;20360068;20379846;20562859;21044950;21081666;21085677;21098709;21110914;21139048;21145366;21319273;21794029;21853274;21890473;21906983;21930127;21963094;21965718;22053931;22505724;22623428;22863883;22939629;22944692;22951725;22990118;23000965;23110497;23242156;23246001;23283744;23707440;23828502;24583282;24651434;24816145;25027693;7556453;8889548;9345902;9565586 5036 F8VR77;F8VZ69;F8W0A3;Q9UQ80 ABBA01008405;AC034102;AF104670;AK291796;AMYH02026562;BC001951;BC007561;BC019222;BC032111;BC069786;BC072007;BU683753;CH471054;NM_006191;U50137;U59435;U87954 AAA91484;AAB91536;AAD00646;AAD05561;AAH01951;AAH07561;AAH19222;AAH32111;AAH69786;AAH72007;ABM84372;ABM87750;BAF84485;EAW96884;EAW96885;NP_006182;Q9UQ80 Hs.524498;Hs.745109 1643735;1676534;1682605;1685688;1739387;1791272;1847887;2153742 D12S1388E;MARC_9801-9802:996688619:1;RH48706;RH79880;RH80204;RK1196_1197;STS-R87726;WI-16415 EBP1;HG4-1;p38-2G4 ErbB-3 binding protein 1;ErbB3-binding protein Ebp1;OTTHUMP00000243116;OTTHUMP00000243117;OTTHUMP00000243118;OTTHUMP00000243361;cell cycle protein p38-2G4 homolog;erbB3-binding protein 1;proliferation-associated 2G4, 38kD;proliferation-associated protein 2G4 APPROVED protein-coding ENSG00000170515 HGNC:8550 03685 602145 REVIEWED 1603420 PA2G4P6 proliferation-associated 2G4 pseudogene 6 9 9 9 q22.2 62647453 62649781 + 92064352 92066679 + 89449437 89451764 + 9345902 646083 ABBA01015390;AL590233;AMYH02021186;NG_005882 PA2G4L3 pseudo HGNC:32219 INFERRED 1603498 PABPC1L2A poly(A) binding protein, cytoplasmic 1-like 2A ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); PARTICIPATES IN mRNA decay pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH cycloheximide (ortholog); diuron (ortholog); ketamine (ortholog) X X X q13.2 72575847 72577973 - 72297177 72299351 - 73077338 73079512 - 6907045;6480464 12477932;21906983 340529 Q5JQF8 ABBA01059717;AL662864;AMYH02039768;AY730282;NM_001012977 NP_001012995;Q5JQF8 Hs.450320 5493741 UniSTS:494461 MGC168104;PABPC1L2B;RBM32A;RP11-493K23.3 OTTHUMP00000023563;RNA binding motif protein 32A;RNA-binding motif protein 32;RNA-binding protein 32;polyadenylate-binding protein 1-like 2 protein-coding ENSG00000186288 HGNC:27989 15178 VALIDATED 1346773 PABPC1L poly(A) binding protein, cytoplasmic 1-like ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); INVOLVED IN mRNA polyadenylation (inferred); oocyte maturation (inferred); PARTICIPATES IN mRNA decay pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; ampicillin 20 20 20 40247341 40276594 + 43538701 43587585 + 44910060 44958944 + 6480464;6907045;8554872 11549316;11780052;12477932;14702039;18483763;18716053;21139048;21890473;21906983;21963094;22505724;22797925;23000965;24244333 80336 F2Z2Z0;H0Y386;Q4VXT4;Q4VXT5;Q4VXT6;Q4VXT8;Q4VXU2;Q4VY17 ABBA01052655;AK021902;AK026760;AK055371;AK124047;AL008725;AL109839;AMYH02037143;AMYH02037144;BC039151;BC068104;CH471077;EU190483;NM_001124756;XM_005260561;XM_006723877;XR_244151 ABY64766;EAW75892;NP_001118228;Q4VXU2;XP_005260618;XP_006723940 Hs.641481 1659086;1665096;1735002;2143258;2155304 AL022259;D20S1113;D20S528E;SHGC-51816;SHGC-6697 C20orf119;FLJ11840;FLJ30809;FLJ42053;PABPC1L1;dJ1069P2.3;ePAB OTTHUMP00000063224;polyadenylate-binding protein 1-like protein-coding ENSG00000101104 HGNC:15797 PROVISIONAL 1349848 PABPC1 poly(A) binding protein, cytoplasmic 1 This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010] 8 8 8 q22.2-q23 97900528 97919706 - 101715144 101734969 - 100702916 100722482 - 1580863;6480464;6907045;8554872 10205060;10358005;10373504;10499800;10543404;11051545;11172725;11274152;11287654;11328870;11438674;11591653;11704675;11850402;11991638;11997512;12086624;12388589;12477932;12489690;12565831;12588972;12723973;12844354;14559993;14583602;14685257;14702039;14739600;15082755;15121898;15303970;15314026;15324660;15489334;15592455;15630022;15663938;15782174;15831480;16055720;16196087;16293633;16332685;16356927;16452507;16465428;16522924;16556936;16594896;16601676;16703665;16716377;16782705;16804161;16869712;16902409;17150895;17203973;17212783;17220478;17267499;17289661;17353931;17361185;17595167;17620599;17643375;17785442;18029348;18056425;18230761;18256688;18305028;18321554;18447585;18467502;18632855;18642007;18729074;18779327;18781797;18799579;18957126;19135240;19193790;19322201;19369421;19417104;19454010;19531213;19542561;19596686;19716330;19738201;19805454;19934229;19946888;19956697;20000738;20009508;20020773;20085707;20096703;20098421;20181956;20221403;20360068;20371770;20418951;20544796;20573819;20595394;20696395;20980505;21063388;21081666;21098120;21139048;21145460;21145461;21182205;21252943;21521633;21539808;21642987;21883093;21890473;21906983;21940797;21963094;21989405;22004688;22022268;22053931;22174317;22268729;22365833;22431630;22446626;22505724;22586326;22623428;22751105;22837200;22863883;22907758;22939629;23000965;23041282;23077236;23077296;23125841;23151878;23230274;23246001;23398456;23443559;23463506;23535375;23602568;23711718;23741361;23805307;23824909;23964095;23966414;24332808;24336168;24550385;24583282;24816145;25015289;25027693;2885805;7908267;8057425;8657127;9548260;9582337;9857202;9880551 26986 E5RFD8;E5RGC4;E5RGH3;E5RH24;E5RHG7;E5RJB9;E5RJM8;E7EQV3;E7ERJ7;H0YAP2;H0YAR2;H0YAS6;H0YAS7;H0YAW6;H0YB75;H0YB86;H0YBN4;H0YC10;P11940 ABBA01037582;AK095194;AK130523;AK298990;AK303120;AL135187;AMYH02018507;AP001205;BC015958;BC023217;BC023520;BC041863;CH471060;HI179042;KC832802;NG_027520;NM_002568;U68104;XM_005250861;Y00345;Z48501 AAD08718;AAH15958;AAH23520;ABM84434;ABM87499;BAG53005;BAG61082;BAG64226;CAA68428;CAA88401;CBX53830;EAW91814;EAW91815;EAW91816;EAW91817;EAW91818;EAW91819;EAW91820;EAW91821;NP_002559;P11940;XP_005250918 Hs.387804 1668244;1711458;1744785;1767447;2176991;2189337;2190741;5015649 D13S1095E;G49185;GDB:568589;MARC_1283-1284:991931128:1;RH68348;SHGC-30876;STS-R77214;UniSTS:265534 PAB1;PABP;PABP-1;PABP1;PABPC2;PABPL1 OTTHUMP00000227462;OTTHUMP00000227463;OTTHUMP00000227464;poly(A) binding protein, cytoplasmic 2;poly(A)-binding protein 1;polyadenylate-binding protein 1 APPROVED protein-coding ENSG00000070756 HGNC:8554 05247 604679 REVIEWED 1642212 PABPC1L2B poly(A) binding protein, cytoplasmic 1-like 2B ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); PARTICIPATES IN mRNA decay pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; hydralazine; valproic acid X X X q13.2 72580392 72582591 - 72223352 72225551 + 73003513 73005712 + 6480464;6907045 12477932 645974 Q5JQF8 ABBA01059727;AC234776;AL662864;AMYH02039768;BC041956;BC136492;NM_001042506 AAH41956;AAI36493;NP_001035971;Q5JQF8 Hs.567854 5493741 UniSTS:494461 MGC168104;PABPC1L2A;RBM32B;RP11-493K23.2 OTTHUMP00000023562;RNA binding motif protein 32B;RNA-binding motif protein 32;RNA-binding protein 32;polyadenylate-binding protein 1-like 2 protein-coding ENSG00000184388 HGNC:31852 VALIDATED 1352283 PA2G4P2 proliferation-associated 2G4 pseudogene 2 20 20 20 p12.1 12430851 12432364 + 12360658 12362171 + 12380010 12381523 + 23192594;9345902 170533 ABBA01053950;AL136460;AMYH02036713;NG_001046 1682605;1685688 RH48706;RH79880 PA2G4L5;bA102J14.2 pseudo HGNC:16531 INFERRED 1602098 PAAF1 proteasomal ATPase-associated factor 1 This gene encodes a WD repeat-containing protein involved in regulation of association of proteasome components. During HIV infection, the encoded protein is thought to promote provirus transcription through recruitment of the 19S regulatory complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012] 11 11 11 q13.4 70894954 70945693 + 73587744 73638781 + 73876699 73927736 + 6480464;8554872 12477932;14702039;15489334;15831487;17207965;17289585;17317272;17323924;17353931;19193609;19446322;19490896;19615732;20471945;21900206;22194858;22275368;22316138;22691779;22797925;22863883;23000965;23503661;24811749;24816145;8125298 80227 F5H0C4;F5H0F7;F5H103;F5H3E9;F5H3I1;F5H5D4;H0YGB1;Q9BRP4 ABBA01017500;ABBA01017501;ABBA01017502;ABBA01017503;AF087895;AK021910;AK222501;AK225520;AK298258;AK309133;AK316394;AMYH02025099;AMYH02025100;AMYH02025101;AP002770;BC006142;BC021541;BC028628;BC028677;BC045774;CD243380;CH471076;DC354686;NM_001267803;NM_001267804;NM_001267805;NM_001267806;NM_025155;XM_005274308;XM_005274309;XM_005274310 AAH06142;AAH21541;AAH28628;AAP97194;ADQ32653;BAB13933;BAD96221;BAG60522;BAH14765;EAW74917;EAW74918;EAW74919;NP_001254732;NP_001254733;NP_001254734;NP_001254735;NP_079431;Q9BRP4;XP_005274365;XP_005274366;XP_005274367 Hs.525017 1660357;1715473;2129078;2150214;2174820;5015861;5109683;7185938;7186035 D10S16;D11S4615;D9S994E;G17596;RH120902;RH45729;STS-N25295 FLJ11848;PAAF;Rpn14;WDR71 OTTHUMP00000237778;OTTHUMP00000237779;OTTHUMP00000237782;OTTHUMP00000237784;OTTHUMP00000237785;OTTHUMP00000237788;WD repeat domain 71;WD repeat-containing protein 71 APPROVED protein-coding ENSG00000175575 HGNC:25687 07761 REVIEWED 730814 P2RX7 purinergic receptor P2X, ligand-gated ion channel, 7 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] 12 12 12 q24 121208365 121262089 + 121570622 121624439 + 121132819 121186551 + 6480464;8554872 11150303;11341329;11707406;11852049;11943260;12107182;12270951;12404161;12422208;12456589;12477932;12493261;12586825;12633871;12759456;12787128;12874219;12874700;12880424;12931211;14510944;14607949;14702039;14976257;15004138;15089763;15120006;15123679;15155383;15184265;15304508;15472991;15475073;15489334;15571247;15728711;15777864;15778408;15830104;15862308;15896293;15899033;15901833;15923180;15942904;15972634;15991050;16117789;16228288;16263709;16321858;16344560;16424024;16514055;16541075;16624800;16673375;16740600;16822851;17032903;17036048;17040997;17065062;17065105;17095747;17130901;17142754;17197037;17257221;17286963;17314141;17474147;17482244;17483156;17488689;17558311;17785580;17895406;17928361;17947359;18040764;18071294;18089587;18211888;18268501;18436590;18523309;18543274;18545980;18596211;18614336;18617511;18676680;18678419;18682393;18765670;18801407;18852390;18937793;18971257;18987356;19017759;19068080;19074885;19076224;19151591;19160446;19170196;19186133;19201928;19204004;19211924;19225709;19226284;19264037;19309360;19328558;19330776;19396427;19430700;19453261;19494237;19548263;19552691;19625176;19682070;19692168;19700502;19748989;19882109;19889958;19891999;19913121;19931869;20007545;20138022;20164546;20185692;20188863;20196868;20226536;20351714;20360457;20378545;20379614;20424473;20446288;20450227;20453110;20488797;20493226;20495003;20508067;20535134;20605778;20628086;20661107;20668222;20813842;20819262;20837475;20846359;21041608;21187936;21205829;21233486;21262970;21266468;21335057;21438144;21470339;21492831;21508263;21565445;21635566;21640086;21645266;21651910;21670495;21697458;21821797;21865551;21911484;21941410;21978920;21988719;21988832;22017219;22048123;22134903;22137490;22163032;22183411;22234152;22250198;22274585;22295949;22377955;22447075;22450808;22461619;22476940;22490780;22493010;22505653;22547202;22613720;22623165;22662160;22703695;22707062;22743305;22768094;22776862;22806078;22891241;22898868;22906303;22946048;22948816;22952630;22996386;23047057;23050672;23095809;23144325;23144326;23204228;23210974;23250993;23293841;23303206;23319734;23404811;23408402;23428418;23435013;23479230;23524196;23602648;23648388;23691096;23793974;23843215;23889535;23936165;23947898;24013409;24105615;24220590;24312495;24487066;24857862;8125298;9038151;9826911 5027 F5H237;F5H2X6;F5H8E7;J3KN30;Q99572 AB209709;ABBA01020152;AC069209;AC079602;AK090866;AK225163;AK290405;AK294126;AK296432;AMYH02027388;AMYH02027389;AY847298;AY847299;AY847300;AY847301;AY847302;AY847303;AY847304;BC007679;BC011913;BC121157;BC121158;BI598073;CH471054;DA274887;DA302256;DQ399293;GQ180122;JX471562;KF459557;NG_011471;NM_002562;NR_033948;NR_033949;NR_033950;NR_033951;NR_033952;NR_033953;NR_033954;NR_033955;NR_033956;Y09561;Y12851;Z98941 AAH07679;AAH11913;AAI21158;AAX82087;AAX82088;AAX82089;AAX82090;AAX82091;AAX82092;AAX82093;ABD59798;ABM84383;ABM87336;ACS72266;AFU91507;BAD92946;BAF83094;BAG52241;BAH11678;BAH12350;CAA70755;CAA73360;EAW98239;EAW98240;NP_002553;Q99572 Hs.729169 1746213;2106855;2106857;2106859;2106861;2106863;2106865;2106867;2106869;2106871;2106873;2106875;2106877;2106879;2106881;2106883;2106885;2106887;2106889;2106891;2106893;2106895;2106901;2106903;2123981;2148959;2154756;2218578;5022578 D1S1423;G64572;P2RX7_4136;PG75UT0907;PG7S01;PG7S02;PG7S03;PG7S04;PG7S05;PG7S06;PG7S07;PG7S08;PG7S09;PG7S1011;PG7S12;PG7S13a;PG7S13b;PG7S3UT01;PG7S3UT0304;PG7S3UT0506;PG7S3UT1009;PG7S5UT1008;PG7S5UT1112;PG7S5UT1415;PG7S5UT2102;PG7S5UT2206;RH71408;SHGC-57922;WI-13224 MGC20089;P2X7 ATP receptor;OTTHUMP00000240217;P2X purinoceptor 7;P2X7 receptor;P2Z receptor;purinergic receptor P2X7 variant A APPROVED protein-coding HGNC:8537 03977 602566 REVIEWED 1350393 PABPC1P1 poly(A) binding protein, cytoplasmic 1 pseudogene 1 4 4 4 p14 40414305 40415246 + 39975056 39975997 + 39973436 39974377 + 10543404;20508642;9880551 26980 ABBA01004149;AC098591;AMYH02009064;NG_001268;NG_021172;U64662 1658137;1711466 G49189;RH71247 PABP1;PABPCP1 APPROVED pseudo HGNC:8558 INFERRED 3231912 PABPC1P12 poly(A) binding protein, cytoplasmic 1 pseudogene 12 10 10 10 p11.1 276245 278332 - 38929126 38931213 + 38635995 38638082 + 100129604 AL133173;FP565576;NG_022171 pseudo HGNC:37994 INFERRED 3003934 PABPC1P11 poly(A) binding protein, cytoplasmic 1 pseudogene 11 9 9 9 17517967 17519200 - 17589461 17590694 - 17589463 17590696 - 20379614 100421058 ABBA01065235;AL133214;AMYH02019237;NG_021608 pseudo HGNC:37993 INFERRED 1346023 PABPC1P10 poly(A) binding protein, cytoplasmic 1 pseudogene 10 3 3 3 q25.2 153447377 153447757 - 155027216 155027596 - 155309427 155309807 - 1878970;8432538 285314 Q9NTZ0 ABBA01058861;AC104831;AMYH02007953;NG_017056 D3S3192;PAB1;PABPL1 APPROVED pseudo HGNC:37992 173865 INFERRED 3418558 PABPC1P13 poly(A) binding protein, cytoplasmic 1 pseudogene 13 16 16 16 p11.2 4229 5989 - 32449949 32453093 - 32438628 32441772 - 644758 AC138915;AMYH02031864;NG_006145 pseudo HGNC:37995 INFERRED 1344918 PABPC1P2 poly(A) binding protein, cytoplasmic 1 pseudogene 2 INTERACTS WITH (+)-catechin 2 2 2 q22.3 141059560 141063492 + 147344625 147348558 + 146587057 146590990 + 6480464 10543404;11003790;11328870;11890856;12477932;14702039;15489334;9880551 728773 ABBA01028033;AC093113;AF132027;AK292357;AMYH02004936;BC033032;BC068242;NR_026904;U60801 BAF85046 Hs.334462 1711464;5015961 D15S1477;G49188 MGC51329;PABP2;PABP4;PABPCP2;PABPCP4 APPROVED pseudo HGNC:8559 PROVISIONAL 1347145 PABPC1P3 poly(A) binding protein, cytoplasmic 1 pseudogene 3 X X X q13.2 74085885 74086848 - 73802419 73803382 - 74582584 74583547 - 10543404;9880551 26978 ABBA01059539;AL513007;AMYH02039782;NG_001266;NG_013258;U64661 1711468;1770014;1770016;2176145 A006C14;G20696;G49191;WI-15437 PABP3;PABPCP3 APPROVED pseudo HGNC:8560 INFERRED 1349754 PABPC1P4 poly(A) binding protein, cytoplasmic 1 pseudogene 4 12 12 12 q14.2 63880531 63883013 + 64215524 64218006 + 63821744 63824226 + 8432538 341315 ABBA01026619;AC084357;AMYH02026650;NG_008823 PABPCP5;PABPL2 APPROVED pseudo HGNC:8563 604681 INFERRED 1607023 P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 48981987 48999268 + 49027304 49044582 + 48989871 49007149 + 6480464;8554872 11257307;12163023;12477932;12485997;12788921;14702039;15456751;15489334;16154531;17726031;21906983;23241241;23284715;23314748;23864651 54681 H7C153;Q9NXG6;V9GY20;V9GYK5 ABBA01024620;ABBA01024621;AC137630;AI079878;AK000269;AL713728;AMYH02006734;AMYH02006735;AW072069;AY198406;BC000580;BC011710;BC018731;BC047566;BC060321;CH471055;NM_177938;NM_177939;XR_245139 AAH00580;AAH11710;AAH47566;AAH60321;AAO43431;BAA91045;CAD28518;EAW64934;EAW64935;EAW64936;EAW64937;EAW64938;EAW64939;EAW64940;NP_808807;NP_808808;Q9NXG6 Hs.654944 1777870;2107495;2112614;2176084;7186491 D3S4369;PH-4__6983;SHGC-76942;STS-AA001886 EGLN4;HIF-PH4;HIFPH4;HPH-4;P4H-TM;PH-4;PH4;PHD4 HIF-prolyl hydroxylase 4;OTTHUMP00000082685;OTTHUMP00000082686;P4H with transmembrane domain;Prolyl hydroxlase domain-containing 4;hypoxia inducible factor prolyl 4 hydroxylase;hypoxia-inducible factor prolyl 4-hydroxylase;hypoxia-inducible factor prolyl hydroxylase 4;proline 4-hydroxylase;transmembrane prolyl 4-hydroxylase APPROVED protein-coding ENSG00000178467 HGNC:28858 17842 614584 REVIEWED 3436168 PABPC1P6 poly(A) binding protein, cytoplasmic 1 pseudogene 6 2 2 2 p11.1 128667 130732 - 92066164 92068229 + 91878138 91880203 + 100128696 ABBA01048752;AC127391;AMYH02004287;NG_023006 pseudo HGNC:37986 INFERRED 2816409 PABPC1P5 poly(A) binding protein, cytoplasmic 1 pseudogene 5 Y Y Y q11.21 377 3082 + 13492079 13492785 + 11336403 11337109 + 100131374 ABBA01003357;AC134882;NG_022964 pseudo HGNC:37985 INFERRED 8552587 PABPC1L2B-AS1 PABPC1L2B antisense RNA 1 (head to head) X X q13.2 72218254 72222944 - 72998380 73003105 - 101928345 AC234776;AMYH02039768;BI600576;HG512576;HG512577;NR_110398;XR_244512;XR_244513;XR_254153;XR_254154;XR_430524;XR_433759 Hs.584657 ncrna ENSG00000226725 HGNC:50345 VALIDATED 3539571 PABPC1P7 poly(A) binding protein, cytoplasmic 1 pseudogene 7 4 4 4 q24 101117504 101119447 + 103817886 103819829 + 102896729 102898672 + 9847074 100128183 ABBA01063703;AC083826;AMYH02009820;NG_008662;NG_011865 pseudo HGNC:37987 INFERRED 3322043 PABPC1P8 poly(A) binding protein, cytoplasmic 1 pseudogene 8 10 10 q11.21 42775177 42777243 - 42279729 42281795 - 100132766 ABBA01049986;AL031601;AMYH02022697;NG_023001 pseudo HGNC:37988 INFERRED 2290032 PABPC4L poly(A) binding protein, cytoplasmic 4-like ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); PARTICIPATES IN mRNA decay pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; cyclosporin A; trichostatin A 4 4 4 q28.3 132457056 132462471 - 135117488 135122903 - 134196333 134201748 - 6480464;6907045;8554872 11181995;21139048;21890473;21906983;22505724;23754948;24816145 132430 P0CB38 ABBA01044875;AC015631;AMYH02010142;AY672099;BX648831;CH471056;DR005318;NM_001114734 EAX05149;NP_001108206;P0CB38 Hs.49889 1684276;1714263 RH119910;RH91325 DKFZp686J06116 PABP-4-like;polyadenylate-binding protein 4-like protein-coding ENSG00000254535 HGNC:31955 VALIDATED 1348533 PABPC5 poly(A) binding protein, cytoplasmic 5 This gene encodes a protein that binds to the polyA tail found at the 3' end of most eukaryotic mRNAs. It is thought to play a role in the regulation of mRNA metabolic processes in the cytoplasm. This gene is located in a gene-poor region within the X-specific 13d-sY43 subinterval of the chromosome Xq21.3/Yp11.2 homology block. It is located close to translocation breakpoints associated with premature ovarian failure, and is therefore a potential candidate gene for this disorder. [provided by RefSeq, May 2010] X X X q21.3 91182192 91186295 + 90689597 90693583 + 91434598 91438584 + 1580863;6480464;6907045 11374897;12477932;15489334;15772651;17207965;19956697;21182203;21890473;21906983;22505724;22808956;23000965;23300856;25015289 140886 Q5JQF3;Q96DU9 ABBA01069866;AJ278963;AK290105;AK297327;AL122118;AL662874;AMYH02039949;BC063113;CH471115;NG_021346;NM_080832 AAH63113;ADQ32067;BAF82794;BAG59787;CAB59276;CAC42826;EAX02776;NP_543022;Q96DU9 Hs.246590 5106114 PABPC5 FLJ51677;PABP5 OTTHUMP00000023637;OTTHUMP00000023638;polyadenylate-binding protein 5 APPROVED protein-coding ENSG00000174740 HGNC:13629 02324 300407 REVIEWED 1602011 PABPC5-AS1 PABPC5 antisense RNA 1 X q21.31 91414905 91418802 - 15885500 102724167 AL662874;AMYH02039949;AW161363;DR033788;HG512624;NR_110659;XR_430528;XR_433763 Hs.571694 CXorf46 APPROVED ncrna HGNC:31845 VALIDATED 1346024 PABPCP4 poly(A) binding protein, cytoplasmic, pseudogene 4 10543404 26977 HGNC:8561 1343398 PABPC3 poly(A) binding protein, cytoplasmic 3 Messenger RNA stability and translation initiation are extensively under the control of poly(A)-binding proteins (PABP). See PABPC1 (MIM 604679) for background information.[supplied by OMIM, Jul 2002] 13 13 13 q12-q13 6733832 6736261 + 25670276 25672705 + 25096138 25098567 + 1580863;6480464;6907045;8554872 10358005;10543404;11230166;11328870;12477932;15489334;16201836;16226712;17267499;17620599;18029348;19460752;19956697;21832049;21890473;21906983;21963094;22505724;23000965;24244333;24550385;24816145;8432538 5042 Q5VX58;Q9H361 AA954581;ABBA01007899;AF132026;AK313336;AL136900;AL359757;AMYH02027716;BC027617;BC045608;BG718483;CH471075;DQ120640;NM_030979 AAG38953;AAH27617;AAH45608;ABB92425;ABM83029;ABM86223;BAG36140;CAB66834;EAX08360;NP_112241;Q9H361 Hs.458280 1711462;2176991;2219428;5015649 D13S1095E;G49187;PABPC3__5808;SHGC-30876 PABP-3;PABP3;PABPL3;tPABP OTTHUMP00000018142;poly(A)-binding protein 3;poly(A)-binding protein-like 3;polyadenylate-binding protein 3;testis PABP;testis-specific poly(A)-binding protein (PABP);testis-specific poly(A)-binding protein 3 APPROVED protein-coding HGNC:8556 05248 604680 VALIDATED 1344422 PABX pseudoautosomal boundary region, X-linked 5043 HGNC:8566 1346911 PABY pseudoautosomal boundary region, Y-linked 5044 HGNC:8567 1345820 PABPN1 poly(A) binding protein, nuclear 1 This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010] 14 14 14 q11.2 3652115 3658087 + 23789397 23795394 + 23320188 23326185 + 6480464;6907045;7240710;8554872;8699517 10205180;10224081;10358005;10543404;10688363;11001936;11222452;11371506;11689481;11850402;12226669;12477932;12673802;12945950;14663186;15121898;15161933;15169763;15489334;15694141;15725589;15755680;16101680;16196087;16239242;16378590;16860991;17005403;17229142;17289661;17418585;18029348;18175083;18178579;18274805;18343218;18397876;18495660;18577654;18577936;19101703;19322201;19364924;19641605;19773279;20226184;20301305;20720006;21089175;21139048;21145461;21545772;21647273;21808065;21854744;21890473;21906983;21956377;22231868;22249111;22502866;22505724;22519734;22570486;22939629;23000965;23125841;23151878;23166521;23300856;23793615;24457600;24583282;24816145;7795598;8889548;9462747 8106 B4DEH8;G3V4T2;H0YJH9;Q86U42 ABBA01061320;AF026029;AK293633;AL049829;AMYH02028869;BC010939;BI830835;BM979311;BX247976;CH471078;NG_008239;NM_004643 AAC39596;AAH10939;BAG57089;CAD62310;EAW66167;EAW66168;NP_004634;Q86U42 Hs.707712 1690290;2138799;2190791;2191547;5022232 MARC_26170-26171:1030649367:1;PABPN;RH47139;RH65111;SHGC-57254 OPMD;PAB2;PABII;PABP-2;PABP2 OTTHUMP00000164595;OTTHUMP00000164596;OTTHUMP00000246235;OTTHUMP00000246236;nuclear poly(A)-binding protein 1;poly(A) binding protein 2;poly(A) binding protein II;poly(A)-binding protein 2;poly(A)-binding protein II;polyadenylate-binding nuclear protein 1;polyadenylate-binding protein 2 APPROVED protein-coding HGNC:8565 03787 164300;602279 REVIEWED 9068659 PACERR PTGS2 antisense NFKB1 complex-mediated expression regulator RNA q31.1 16344560;24843008;8889548 103752588 AL033533;BU733503;NR_125801 Hs.441636 PACER;PTGS2-AS1 ncrna HGNC:50552 VALIDATED 1352616 PACRG PARK2 co-regulated This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q26 163877766 164466475 + 163148164 163736524 + 162727125 163315492 + 6480464;8554872 11181995;12477932;12547187;12577057;14532270;14574404;14702039;14737177;14743368;15301585;15489334;15925106;16287063;16391553;16973374;17068781;17207965;17590346;17722288;19196541;19268936;19723394;20012177;20379614;20877624;21816242;21832049;22009144;22505724;22652456;23052943;23125027;23861666 135138 H0YFE8;H0YFW3;H0YGE0;Q96M98 ABBA01015115;ABBA01015116;ABBA01015117;ABBA01015118;ABBA01015119;ABBA01015120;AF546872;AK057286;AL031121;AL078585;AL137182;AL354942;AL590286;AL603788;AMYH02014922;AMYH02014923;AMYH02014924;AMYH02014925;AMYH02014926;AMYH02014927;AMYH02014928;AMYH02014929;AP001576;BC030642;BC044227;BK001670;CH471051;NG_011525;NM_001080378;NM_001080379;NM_152410;XM_005266824;XM_005266825;XM_005266826;XM_006715343;XM_006715344;XM_006715345 AAH30642;AAH44227;AAN37911;ADQ33104;BAB71410;DAA02134;EAW47563;EAW47564;EAW47565;EAW47566;NP_001073847;NP_001073848;NP_689623;Q96M98;XP_005266881;XP_005266882;XP_005266883;XP_006715406;XP_006715407;XP_006715408 Hs.25791 1331554;1337949;1649479;1649790;1649792;1675178;1690868;1694146;1694194;1703778;1711072;1717795;1752107;1753421;1757093;1786046;1853737;1855100 A006C15;AL008745;AL008752;D6S1008;D6S1035;D6S1071;D6S1175E;D6S1899;D6S305;G20697;RH121808;RH93900;SHGC-106072;SHGC-107229;SHGC-144483;SHGC-155508;SHGC-83222;SHGC-86172 FLJ32724;GLUP;HAK005771;PARK2CRG;RP3-495O10.2 OTTHUMP00000017729;OTTHUMP00000017730;OTTHUMP00000239114;PARK2 coregulated gene protein;molecular chaperone/chaperonin-binding protein;parkin co-regulated gene protein;parkin coregulated gene protein APPROVED protein-coding ENSG00000112530 HGNC:19152 07465 608427 REVIEWED 6766426 PACRG-AS1 PACRG antisense RNA 1 6 6 6 q26 164460967 164475441 - 163731017 163745505 - 163309985 163324473 - 14702039;16344560 285796 ABBA01015114;ABBA01015115;AK094729;AL031121;AMYH02014929;DA395577;NR_028390 Hs.668693 1690868;1721251 G59622;RH93900 APPROVED ncrna HGNC:27772 VALIDATED 735286 PACS1 phosphofurin acidic cluster sorting protein 1 This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008] 11 11 11 q13.1-q13.2 63162531 63336885 + 65837747 66012218 + 66070276 66244747 + 1580863;6480464;8554872 10574461;10707087;11331585;11463741;12414957;12477932;12526811;12855553;14608369;14633983;14702039;14965316;15302935;15489334;15569716;15638726;15692563;16308564;16977309;18005690;18653452;19149577;19710307;20360068;20379614;20702582;21139048;21890473;21926972;22496420;23159249;23559827;23563609;24001769;9695949 55690 B4DF77;E9PNG7;E9PNZ9;E9PPK2;E9PSE1;E9PSG7;H0YCU5;H0YE62;H0YF56;Q6VY07 AB033001;ABBA01024088;ABBA01024089;ABBA01024090;ABBA01024091;AK001071;AK056361;AK096644;AK098336;AK293966;AL137271;AMYH02024970;AMYH02024971;AMYH02024972;AMYH02024973;AMYH02024974;AP000759;AP000822;AP006287;AY320283;BC003173;BC009936;BC010096;BC042909;BC052577;BC055288;BQ772654;CH471076;NG_033900;NM_018026;XM_005274097 AAH03173;AAH09936;AAH10096;AAH52577;AAH55288;AAQ67682;BAA86489;BAA91491;BAB71164;BAC04831;BAG57338;CAB70669;EAW74502;EAW74503;EAW74504;EAW74505;EAW74506;NP_060496;Q6VY07;XP_005274154 Hs.644326 1298295;1338807;1643792;1738123;1770658;2106565;2131883;2190701;2190703;2190705;2190711;2190713;2190715;5127142;7184003 152L21att;3F;4f;A001T38;CA21601;CA64681;D11S3746;D11S913;D1S2684;GT7681;PACS1__5810;RH12046;RH18211;RH65425 FLJ10209;KIAA1175;MRD17;PACS-1 OTTHUMP00000234308;cytosolic sorting protein PACS-1 APPROVED protein-coding ENSG00000175115 HGNC:30032 06320 607492;615009 REVIEWED 1312792 PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form) Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 1 1 1 p34.2 38308199 38324232 - 40026485 40042522 - 39560813 39576849 - 1580863;6480464;6907045 10358005;10543404;11369516;12477932;14559993;14702039;15161933;15231747;15231748;15383276;15489334;15592455;15782174;16196087;17289661;17353931;17361185;17620599;17643375;18029348;18781797;19167051;19322201;19531213;19542561;19596686;19738201;19850743;19956697;20020773;20360068;20686565;20811636;21139048;21145461;21252943;21300955;21642987;21646427;21890473;21903422;21906983;21940797;21963094;22053931;22108332;22505724;22586326;22623428;22863883;22884093;22939629;23000965;23125841;23151878;23246001;23300856;23398456;23455922;23602568;23825951;23862649;24097068;24332808;24457600;24550385;24654937;24816145;25015289;8125298;8524242;9030741 8761 B1ANR0;B1ANR1;H0Y5F5;H0Y6X6;H0YCC8;H0YEQ8;H0YER0;H0YEU6;Q13310 AB208962;ABBA01023207;AK091110;AK125926;AK222917;AL365277;AL845289;AMYH02000835;BC029969;BC065540;BC071591;BC094755;BC106908;BC118568;CH471059;D12799;DB455681;NM_001135653;NM_001135654;NM_003819;U33818;U75686 AAB97309;AAC50350;AAH65540;AAH71591;AAH94755;AAI06909;AAI18569;BAA02244;BAD92199;BAD96637;EAX07261;EAX07262;EAX07263;EAX07264;EAX07265;EAX07266;EAX07267;EAX07268;NP_001129125;NP_001129126;NP_003810;Q13310 Hs.169900 1659662;1686580;1707540;1711460;1736170;1854710;2175891;2191013;5022659;5493481 A001T47;D1S2022E;D20S1124;G49186;MARC_12901-12902:999887268:1;PABPC4;RH39552;SHGC-84579;UniSTS:486701;WI-19844 APP-1;APP1;FLJ43938;PABP-4;PABP4 OTTHUMP00000010668;OTTHUMP00000010669;OTTHUMP00000010670;OTTHUMP00000010671;OTTHUMP00000230701;activated-platelet protein 1;iPABP;inducible poly(A)-binding protein;poly(A)-binding protein 4;polyadenylate-binding protein 4 APPROVED protein-coding ENSG00000090621 HGNC:8557 04557 603407 REVIEWED 3078328 PABPN1L poly(A) binding protein, nuclear 1-like (cytoplasmic) ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); PARTICIPATES IN mRNA decay pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH C60 fullerene (ortholog) 16 16 16 q24.3 73996625 74001605 - 88929746 88933068 - 88863338 88866660 - 6480464;6907045;8554872 12477932;15083517;15380618;18483763;23000965 390748 A6NDY0;B6RF28 ABBA01013588;AC092384;AMYH02032648;BC130001;BC130002;EU190484;NM_001080487;NM_001294328;XM_005256311 A6NDY0;AAI30002;AAI30003;AAI48674;AAI56596;ABY64767;NP_001073956;NP_001281257;XP_005256368 Hs.730522 1847445 STS-AA035228 PABPNL1;ePABP2 OTTHUMP00000242978;OTTHUMP00000242979;OTTHUMP00000242980;ePABP-2;embryonic poly(A) binding protein 2;embryonic poly(A)-binding protein 2;embryonic poly(A)-binding protein type II;embryonic polyadenylate-binding protein 2;poly(A)-binding protein nuclear-like 1 protein-coding ENSG00000205022 HGNC:37237 VALIDATED 3051038 PABPC1P9 poly(A) binding protein, cytoplasmic 1 pseudogene 9 22 22 22 q11.1 577798 580274 + 16904682 16907158 + 16423957 16426433 + 100130338 ABBA01001472;AC137499;AMYH02037976;AP000544;AP000545;NG_011864 pseudo HGNC:37991 INFERRED 1344006 PADI1 peptidyl arginine deiminase, type I This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008] 1 1 1 p36.13 15854608 15895194 + 17531621 17572501 + 17205126 17246006 + 1580863;6480464;8554872 12416996;12477932;14579251;14702039;15087120;15150696;15675958;16091842;16196087;16710414;16973334;17851584;18669583;18710930;20596086;8125298 29943 B4DDP3;B4DPX6;B4DQP2;Q9ULC6 AB033768;ABBA01000266;ABBA01000267;AJ549502;AK026652;AK127515;AK225541;AK293275;AK298538;AK298892;AK309106;AK314644;AL590644;AMYH02000392;BC130574;BC136402;CH471134;NM_013358 AAI30575;AAI36403;ADR83241;BAA85771;BAG37206;BAG56804;BAG60738;BAG61004;CAE47741;EAW94833;NP_037490;Q9ULC6 Hs.412941 2109621 PADI1_9613 HPAD10;PAD1;PDI;PDI1 OTTHUMP00000002401;hPAD-colony 10;peptidylarginine deiminase I;protein-arginine deiminase type I;protein-arginine deiminase type-1 APPROVED protein-coding ENSG00000142623 HGNC:18367 06395 607934 REVIEWED 736787 PACSIN1 protein kinase C and casein kinase substrate in neurons 1 ENCODES a protein that exhibits phospholipid binding; INVOLVED IN membrane tubulation; establishment of protein localization to plasma membrane (ortholog); neuron projection morphogenesis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; axon terminus (ortholog); perinuclear region of cytoplasm (ortholog); INTERACTS WITH all-trans-retinoic acid; calcitriol; hydrogen peroxide 6 6 6 p21.3 35988242 36057336 + 34433838 34503000 + 34466061 34535223 + 1580863;6480464;8554872 10718198;11076863;11082044;11179684;11230166;11256614;11292345;11352907;11431473;12168954;12354780;12477932;15252009;15489334;15489336;16169070;16189514;16318909;16381901;16627472;17437541;18649358;19041431;19549836;20057076;20936779;21044950;22355135;22488361;22745667;23236520;23443559;23898200;24751538;9950691 29993 F6U236;Q5TZC3;Q9BY11 AB037800;ABBA01038191;ABBA01038192;AF242529;AK289956;AK294132;AL157372;AL834211;AMYH02013516;AMYH02013517;AMYH02013518;AMYH02013519;BC040228;BC128219;BP211882;BP251080;CH471081;DC312410;NM_001199583;NM_020804 AAH40228;AAI28220;AAK29206;ABM83404;ABM86615;BAA92617;BAF82645;BAG57460;CAD38895;CAL38387;EAX03785;EAX03786;EAX03787;NP_001186512;NP_065855;Q9BY11 Hs.520087 1652873;1667621;1686913;1716109;1853357;2127176 A001Z37;A009Q41;L18005;RH121019;RH77896;RH92669 KIAA1379;SDPI OTTHUMP00000016231;OTTHUMP00000016232;protein kinase C and casein kinase substrate in neurons protein 1;syndapin 1;syndapin I;syndapin-1 protein-coding ENSG00000124507 HGNC:8570 05936 606512 VALIDATED 69456 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 22 22 22 q13.2-q13.33 27176274 27321760 - 43265772 43411184 - 42869766 43015178 - 1580863;6480464 10431838;10591208;11082044;11179684;11230166;12023017;12477932;15226389;15461802;15489334;15862967;16189514;16318909;16551695;16627472;17081983;18456257;19041431;19056867;19549836;19767753;20188097;20379614;20564319;20936779;21044950;21139048;21200149;21610094;21693584;21807942;21906983;21963094;22846425;22863883;23129763;23596323;8619474;9110174 11252 B0QYG7;B0QYG8;B0QYG9;F8WC50;H0Y923;Q6FIA3;Q9UNF0 ABBA01017914;ABBA01017915;ABBA01017916;ABBA01017917;ABBA01017918;ABBA01017919;ABBA01017920;ABBA01017921;AF128536;AL022476;AL049758;AL136845;AL389984;AMYH02038469;AMYH02038470;AY007086;BC008037;BI964045;CH471138;CR456536;CR533523;NM_001184970;NM_001184971;NM_007229;XM_005261319;XM_006724117;XM_006724118;XM_006724119;XM_006724120 AAD41781;AAH08037;ABM83837;ABM87160;CAB66779;CAB97538;CAG30422;CAG38554;CAK54567;CAK54866;EAW73277;EAW73278;NP_001171899;NP_001171900;NP_009160;Q9UNF0;XP_005261376;XP_006724180;XP_006724181;XP_006724182;XP_006724183 Hs.162877 1678401;1723625;1752367;1776698;1790673;1849491;1849493;2169046 A005Z33;AL021660;BARC0039;G20629;RH118731;RH80194;SHGC-106298;STS-T97931 SDPII OTTHUMP00000198281;OTTHUMP00000198282;OTTHUMP00000198283;OTTHUMP00000198284;cytoplasmic phosphoprotein PACSIN2;protein kinase C and casein kinase substrate in neurons protein 2;syndapin 2;syndapin II;syndapin-2;syndapin-II;syndapin2 APPROVED protein-coding ENSG00000100266 HGNC:8571 05390 604960 REVIEWED 1348232 PADI2 peptidyl arginine deiminase, type II This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008] 1 1 1 p36.13 15715602 15768303 - 17393256 17445948 - 17066761 17119453 - 69925;1580863;6480464 2768262 10231032;11181995;12392711;12477932;14579251;15087120;15555572;15629448;15704193;16710414;16723463;16973334;17031564;17469138;17968929;18645041;18668562;18923545;19056867;19478818;19564157;20013286;20379614;20806090;21139048;21878453;22520816;22614825;22853951;22911765;23022892;23562679;24384061;24594197;24989433 11240 B4DIU3;Q9Y2J8 AB023211;AB030176;ABBA01000263;ABBA01000264;ABBA01000265;ABBA01000266;AJ549502;AK123164;AK127006;AK295783;AL049569;AMYH02000388;AMYH02000389;AMYH02000390;BC009701;CH471134;NG_033958;NM_007365 AAH09701;BAA76838;BAA82557;BAC85545;BAG58605;CAE47740;EAW94830;EAW94831;NP_031391;Q9Y2J8 Hs.33455 1339814;1665830;1682353;1693322;1775588;1853895;2141060;2152870;2219430 D1S2590;D1S272E;D2S2154;G42367;PADI2__5811;RH28516;SHGC-32551;SHGC-74290;SHGC-74293 KIAA0994;PAD-H19;PAD2;PDI2 OTTHUMP00000002403;OTTHUMP00000002404;peptidlyarginine deiminase type II;peptidylarginine deiminase II;protein arginine deiminase;protein-arginine deiminase type II;protein-arginine deiminase type-2 APPROVED protein-coding ENSG00000117115 HGNC:18341 06396 607935 REVIEWED 1605875 PACRGL PARK2 co-regulated-like INTERACTS WITH 17alpha-ethynylestradiol; copper(2+) sulfate; cyclosporin A 4 4 4 p15.31 21158541 21186485 + 20702036 20729980 + 20696287 20752900 + 6480464 12477932;14702039;15489334;15815621;16341674;21988832;8889548 133015 A8K679;D6R9D1;D6R9F1;D6R9N9;D6RA69;D6RAL7;D6RAM4;D6RB63;D6RBZ2;D6RC13;D6RC23;D6RD40;D6RDH3;D6REJ6;D6REQ4;D6RF08;D6RF51;D6RF67;D6RGK2;H0YA87;Q8N7B6 ABBA01032646;AC097505;AC104065;AK098692;AK291544;AK294077;AK297556;AK307092;AK307355;AK307786;AK315482;AMYH02008853;BC023002;BG741791;BM763154;BU674750;CF121351;CH471069;DC339941;NM_001130727;NM_001258345;NM_001258346;NM_145048;NR_047661;XM_006713939;XM_006713940;XM_006713941;XM_006713942;XM_006713943;XM_006713944;XM_006713945;XM_006713946;XM_006713947;XM_006713948;XM_006713949;XM_006713950;XM_006713951;XM_006713952;XM_006713953;XM_006713954;XM_006713955 AAH23002;AAY40910;BAC05381;BAF84233;BAG37866;BAG57419;BAG59949;EAW92795;EAW92796;NP_001124199;NP_001245274;NP_001245275;NP_659485;Q8N7B6;XP_006714002;XP_006714003;XP_006714004;XP_006714005;XP_006714006;XP_006714007;XP_006714008;XP_006714009;XP_006714010;XP_006714011;XP_006714012;XP_006714013;XP_006714014;XP_006714015;XP_006714016;XP_006714017;XP_006714018 Hs.479298 1681300;1691212;2145913 D4S2590E;RH92764;RH93232 C4orf28;MGC29898 OTTHUMP00000158692;OTTHUMP00000217910;OTTHUMP00000217911;OTTHUMP00000218077;OTTHUMP00000218079;OTTHUMP00000218082;OTTHUMP00000218083;OTTHUMP00000218084;OTTHUMP00000218088;OTTHUMP00000218902;OTTHUMP00000218903;OTTHUMP00000218909;OTTHUMP00000218910;OTTHUMP00000218913;OTTHUMP00000218915;OTTHUMP00000218979;PACRG-like protein protein-coding ENSG00000163138 HGNC:28442 14537 VALIDATED 1607027 PAF1 Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 19 19 19 q13.1 36677951 36683361 - 39876269 39881835 - 39385629 39391195 - 6480464;7240710 12477932;14702039;15632063;15923622;16024656;16307923;16344560;16491129;16713563;18029348;18469135;19454010;19771162;20178742;20305087;20471949;20541477;21037944;21139048;21209461;21406692;21596312;21726809;21873227;21890473;21906983;21963094;22046413;22053931;22079093;22082156;22355797;22405323;22451921;22567366;22863883;22939629;22990118;23000965;23008333;23667531;23785282;23891004;24038468;24101474;24357716;24360965;24583282;24600005;24816145;24837678;25003666 54623 B4DGJ5;M0QYC7;Q8N7H5 ABBA01040729;AC005239;AF086555;AJ401156;AK001985;AK098423;AK294625;AMYH02036092;BC000017;BC013402;CH471126;DA821359;NM_001256826;NM_019088;NR_046384 AAC25503;AAH00017;AAH13402;ABM82765;ABM85952;BAA92020;BAC05305;BAG57806;CAC20564;EAW56880;EAW56881;EAW56882;EAW56883;NP_001243755;NP_061961;Q8N7H5 Hs.466714 1663807;1677806 RH36195;RH91454 F23149_1;FLJ11123;PD2;hPAF1 RNA polymerase II-associated factor 1 homolog;pancreatic differentiation protein 2 APPROVED protein-coding ENSG00000006712 HGNC:25459 10140 266510;610506;614866;614867 REVIEWED 1354366 PADI6 peptidyl arginine deiminase, type VI This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012] 1 1 1 p36.13 16023823 16053321 + 17698741 17728195 + 17372246 17401699 + 6480464 14579251;15087120;15625577;18849993;22364592;22634725;23164236;24403052 353238 Q6TGC4 ABBA01000269;ABBA01000270;AC004824;AJ549502;AMYH02000393;AMYH02000394;AY422079;AY443100;CH471134;KF573689;NG_032943;NM_207421 AAI48642;AAI53198;AAR38850;AAS07634;CAD70706;EAW94837;NP_997304;Q6TGC4 Hs.531598 1661210;2161646 AL009774;D1S2601 hPADVI;peptidyl arginine deiminase-like protein;peptidylarginine deiminase VI;peptidylarginine deiminase type 6;protein-arginine deiminase type VI;protein-arginine deiminase type-6 APPROVED protein-coding ENSG00000276747 HGNC:20449 15095 610363 REVIEWED 1347844 PAFAH1B1P1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 pseudogene 1 2 2 p11.2 87865192 87866769 - 87565673 87567250 - 10575211 7845 ABBA01188578;AC133644;AF092544;AMYH02004232;NG_003165 1688318;1783960 RH48326;SHGC-130305 LIS2;PAFAH1P1 APPROVED pseudo HGNC:8577 INFERRED 1350191 PAFAH1B1P2 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 pseudogene 2 2 2 q13 112141139 112142720 + 111383562 111385143 + 10575211 27002 AC068491;AF092545;AMYH02004574;NG_003167 1688318;1783960 RH48326;SHGC-130305 LIS2P;PAFAH1P2 APPROVED pseudo HGNC:8578 INFERRED 733676 PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014] 11 11 11 q23 114172757 114205230 + 117015000 117048889 + 117144284 117178173 + 4107040;4107059;6480464;8554872 11983068;17330141 10727864;11522926;12477932;12885786;14718574;15489334;16130169;16169070;16189514;16344560;17849047;18029348;18155631;18464913;19019335;19056867;19622634;19738201;20360068;20639865;21139048;21319273;21844189;21866060;21890473;22863883;23238734;23508960;23824909;24163370;24816145;8954729;9144386;9693049 5049 J3KNE3;P68402;V9HW44 ABBA01039737;ABBA01039738;AK292973;AK307366;AMYH02025626;AMYH02025627;AMYH02025628;AP005018;AW080651;BC000398;BC001774;BC010009;BC019301;BC021287;BC039721;CH471065;CR456736;D63390;DA992484;DB484056;DQ836738;DQ836739;DQ836740;DQ836741;DQ836742;DQ836743;EF445007;FJ224328;NM_001184746;NM_001184747;NM_001184748;NM_002572;NR_110268;NR_110269;NR_110282 AAH00398;AAH01774;AAH19301;ABI58225;ABI58226;ABI58227;ABI58228;ABI58229;ABI58230;ACA06040;ACI46020;BAA19917;BAF85662;CAG33017;EAW67281;EAW67282;NP_001171675;NP_001171676;NP_001171677;NP_002563;P68402 Hs.728488 1661602;1733742;1850033;2144105;2171353;2171355;2175033;2177036;2219434;5022450;5113764 A002C39;D10S275;D11S2082;G19939;PAFAH1B2__5813;RH18271;RH46116;RH46404;RH65106;RH65946;RH70243 HEL-S-303 OTTHUMP00000234977;OTTHUMP00000234979;OTTHUMP00000234980;OTTHUMP00000234981;PAF acetylhydrolase 30 kDa subunit;PAF-AH 30 kDa subunit;PAF-AH subunit beta;PAF-AH1b alpha 2 subunit;PAFAH subunit beta;epididymis secretory protein Li 303;intracellular platelet-activating factor acetylhydrolase alpha 2 subunit;platelet-activating factor acetylhydrolase IB subunit beta;platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa) APPROVED protein-coding ENSG00000168092 HGNC:8575 03940 602508 VALIDATED 1604046 PACS2 phosphofurin acidic cluster sorting protein 2 INVOLVED IN autophagic vacuole assembly; protein localization to pre-autophagosomal structure; protein targeting to plasma membrane; FOUND IN endoplasmic reticulum; INTERACTS WITH atrazine; benzo[a]pyrene; lead(0) 14 14 14 q32.33 85829098 85913416 + 105767170 105864484 + 105300811 105398147 + 6480464 12477932;15302935;15489334;15692563;15692567;16344560;18296443;18417615;19481529;19851296;20198315;22496420;22645134;22844345;24250222;24633224;9628581 23241 E9PB38;F8VW41;F8VX22;F8W0B1;F8W0V0;Q86VP3;Q8N7J0 AB011174;AB029326;AB072449;ABBA01008870;ABBA01008871;ABBA01008872;ABBA01008873;ABBA01008874;ABBA01008875;ABBA01008876;AK098354;AL512355;AL539052;AL928654;AMYH02029964;AMYH02029965;AMYH02029966;AY320284;BC010663;BC028418;BC050351;BC065220;BC095493;BC131591;BU944012;CA423467;CH471061;DA177001;DA275449;DA408379;DA491365;HY009105;NM_001100913;NM_001243127;NM_015197;XM_005267462;XM_005267463;XM_006720085;XM_006720086;XM_006720087;XM_006720088;XM_006720089;XM_006720090;XM_006720091;XM_006720092 AAH10663;AAH50351;AAH65220;AAI31592;AAQ83882;BAA25528;BAB87116;BAB88325;BAC05290;EAW81915;NP_001094383;NP_001230056;NP_056012;Q86VP3;XP_005267519;XP_005267520;XP_006720148;XP_006720149;XP_006720150;XP_006720151;XP_006720152;XP_006720153;XP_006720154;XP_006720155 Hs.525626 1646974;1757787;1758473;2134438;2134440;2141598;2167271;5037552 D8S2279;G36208;G36304;RH15744;RH44555;SHGC-146518;SHGC-148425;WI-16962 FLJ25488;KIAA0602;PACS-2;PACS1L OTTHUMP00000243837;OTTHUMP00000243838;OTTHUMP00000243839;OTTHUMP00000243840;PACS1-like protein;phosphofurin acidic cluster sorting protein 1-like protein-coding ENSG00000179364 HGNC:23794 17816 610423 VALIDATED 1348860 PADI4 peptidyl arginine deiminase, type IV This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008] 1 1 1 p36.13 15960064 16015550 + 17634690 17690495 + 17308195 17364000 + 1580863;6480464;7240710;8554872 10488123;11042152;11435484;12393868;12477932;12833157;15077293;15087120;15247907;15338034;15339660;15345777;15489334;15629448;15731287;15731352;15814578;15883854;15998632;16060666;16200584;16355400;16380915;16385500;16449362;16469113;16502257;16519819;16567635;16710414;16828881;17216583;17265154;17469103;17868046;17888206;17911417;17968929;17980669;18029348;18087673;18292109;18398945;18462498;18466472;18466513;18505818;18576335;18633125;18668562;18764812;18849993;19004619;19158815;19199100;19199253;19332633;19470526;19581286;19843866;20039406;20190809;20233754;20476860;20496417;20537173;20563870;20584675;20630876;20827398;21039740;21062850;21245532;21267570;21418828;21452313;21454715;21466234;21505073;21584310;21602177;21655091;21698003;21731701;21832049;21981985;22334079;22459419;22552437;22614825;22907585;22944128;23028349;23214088;23382808;23450494;23577190;23698378;23818587;23940030;24140127;24390342;24454473;24564960;24594197 23569 B1AQ67;Q9UM07 AB017919;ABBA01000268;ABBA01000269;AC004824;AF229067;AJ549502;AJ715932;AJ715933;AJ715934;AJ715935;AJ715936;AJ715937;AJ715938;AJ966355;AK290507;AK309637;AK314839;AL138798;AL590644;AMYH02000393;BC025718;CH471134;NG_023261;NM_012387 AAF82265;AAH25718;ADZ16037;BAA84542;BAF83196;BAG37357;CAE47743;CAG30581;CAG30582;CAG30583;CAG30584;CAG30585;CAG30586;CAG30587;CAI84651;EAW94835;EAW94836;NP_036519;Q9UM07 Hs.522969 1733074;1734232;2217690 D1S1415;D1S1748E;PADI4__2891 PAD;PAD4;PADI5;PDI4;PDI5 HL-60 PAD;OTTHUMP00000002482;PADI-H protein;peptidyl arginine deiminase, type V;peptidylarginine deiminase IV;protein-arginine deiminase type IV;protein-arginine deiminase type-4 APPROVED protein-coding ENSG00000159339 HGNC:18368 05635 180300;605347 REVIEWED 1316456 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 11 11 11 p12-p11.12 47338301 47347238 - 47199073 47208010 - 47177522 47186459 - 1580863;6480464 10531379;11082044;11179684;12477932;12952982;14679214;14702039;15226389;15280379;15489334;15719014;16374509;16627472;17081983;17353931;18174177;18316326;19041431;19056867;19294699;20360068;21044950;21139048;21987572;22558309;22573331;22939629;23000965;23398456;24500282 29763 E9PIY1;E9PIZ6;E9PJ33;E9PJ75;E9PNM9;E9PQ12;H0YDM6;Q9UKS6 ABBA01060721;AC090589;AF130979;AF149825;AF242530;AK000577;AK300658;AK300968;AK310819;AMYH02024725;BC007914;BC011889;BI601317;CH471064;NM_001184974;NM_001184975;NM_016223 AAF04472;AAG31023;AAH07914;AAH11889;AAK29207;ABM84082;ABM87449;BAA91267;BAG62344;BAG62592;BAI46684;EAW67960;EAW67961;EAW67962;NP_001171903;NP_001171904;NP_057307;Q9UKS6 Hs.334639 1686570;2191007 MARC_12871-12872:1000494470:1;RH98304 FLJ17861;SDPIII OTTHUMP00000234262;OTTHUMP00000234263;OTTHUMP00000234264;SH3 domain-containing protein 6511;protein kinase C and casein kinase substrate in neurons protein 3;syndapin III APPROVED protein-coding ENSG00000165912 HGNC:8572 05937 606513 REVIEWED 1349260 PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009] 17 17 17 p13.3 2513612 2605584 + 2496923 2588909 + 2593629 2685615 + 1601499;1580863;4107040;6480464;6484113;7240710;8554872;8699517 17330141;1754098 10441340;10491172;10727864;10729324;10931877;11001923;11056532;11076968;11163258;11163260;11294621;11502906;11734602;11754098;11803439;11889140;11916011;11940666;12110797;12185771;12221128;12477932;12496397;12556484;12796778;12852856;12885786;14578885;14581661;14584027;14733918;14962739;14970193;15007136;15057976;15081260;15173193;15489334;15698475;15762842;16009940;16027700;16086290;16138011;16144905;16169070;16203747;16258276;16411107;16462731;16549273;16642511;16689754;16761416;16766276;16806233;17018134;17041588;17043677;17664403;17850624;18029348;18285425;18421979;18431085;18524253;18781797;18784752;18818748;19019335;19020519;19050731;19056867;19136950;19251251;19527514;19622634;19632097;19667223;19913121;20048338;20084519;20133715;20140262;20168084;20301752;20360068;20452482;20452996;20464283;20628086;20634891;20673868;20675372;21036906;21092859;21107783;21139048;21319273;21565611;21569763;21593204;21652625;21890215;21906983;21911489;22006948;22328561;22373868;22505724;22749159;22863883;22956769;23813913;24487275;24654937;24928020;25027693;7573359;7790358;8028668;8355785;8586424;9044400;9063735;9131135;9218411;9384577;9601647;9626899 5048 B4DF38;I3L384;I3L3N5;I3L495;P43034 ABBA01054715;ABBA01054716;ABBA01054717;ABBA01054718;ABBA01054719;AC005696;AC015799;AF208835;AF208836;AF208837;AF208838;AF400434;AK293918;AK303015;AK313078;AMYH02032782;AMYH02032783;BC064638;BX538346;CH471108;L13385;L13386;L13387;L13388;L25107;NG_009799;NM_000430;S81396;U72342 AAA02880;AAA02881;AAA02882;AAC51111;AAH64638;AAK92483;AAL34972;AAL34973;BAG35904;BAG57299;BAG64145;CAD98141;EAW90536;NP_000421;P43034 Hs.77318 1341017;1647168;1649220;1665231;1680747;1688318;1733386;1737545;1759477;1783960;2118133;2130929;2132387;2141786;2155961;2176190 D17S1267;D17S1582;D17S1798;D17S2027;D17S850E;G33155;RH12602;RH16161;RH48326;RH92999;SHGC-130305;SHGC-150914;STS-H04399;STS-T60849;WI-11159;WI-15114 LIS-1;LIS1;LIS2;MDCR;MDS LIS-1 {ECO:0000255|HAMAP-Rule:MF_03141};PAF acetylhydrolase 45 kDa subunit;PAF acetylhydrolase 45 kDa subunit {ECO:0000255|HAMAP-Rule:MF_03141};PAF-AH 45 kDa subunit;PAF-AH 45 kDa subunit {ECO:0000255|HAMAP-Rule:MF_03141};PAF-AH alpha;PAF-AH alpha {ECO:0000255|HAMAP-Rule:MF_03141};PAFAH;PAFAH alpha;PAFAH alpha {ECO:0000255|HAMAP-Rule:MF_03141};PAFAH1B1 {ECO:0000255|HAMAP-Rule:MF_03141};lissencephaly 1 protein;lissencephaly-1 protein;lissencephaly-1 protein {ECO:0000255|HAMAP-Rule:MF_03141};platelet-activating factor acetylhydrolase IB subunit alpha;platelet-activating factor acetylhydrolase IB subunit alpha {ECO:0000255|HAMAP-Rule:MF_03141};platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD);platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa) APPROVED protein-coding ENSG00000007168 HGNC:8574 03329 601545;607432 REVIEWED 732756 PADI3 peptidyl arginine deiminase, type III This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008] 1 1 1 p36.13 15898287 15933417 + 17575593 17610728 + 17249098 17284233 + 1580863;6480464;8554872 10092850;11069618;11181995;12477932;14579251;15087120;15150696;15489334;15675958;16091842;16671893;16710414;16973334;18029348;18083705;18923650;18952102;22684066;22963397;23284291 51702 Q9ULW8 AB026831;ABBA01000267;ABBA01000268;AJ549502;AL590644;AMYH02000392;AMYH02000393;BC041592;BC109091;BC109092;CH471134;NM_016233;XM_006710684 AAH41592;AAI09092;AAI09093;BAA85974;CAE47742;EAW94834;NP_057317;Q9ULW8;XP_006710747 Hs.149195 2219432 PADI3__5812 MGC126307;MGC126308;PAD3;PDI3 OTTHUMP00000002484;peptidyl arginine deiminase, type 3;peptidylarginine deiminase III;protein-arginine deiminase type III;protein-arginine deiminase type-3 APPROVED protein-coding ENSG00000142619 HGNC:18337 08419 606755 REVIEWED 1344360 PAGE1 P antigen family, member 1 (prostate associated) This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an antigenic peptide. Nothing is presently known about the function of this protein. [provided by RefSeq, Jul 2008] X X X p11.23 53521572 53529872 - 49452053 49460596 - 49687450 49695993 - 6480464;8554872 10397259;12477932;15489334;18029348;18781797;20237496;20360068;21963094;7544395;9651357;9724777 8712 O75459 ABBA01063275;ABBA01063276;AC142496;AC231643;AF058989;AMYH02039350;AMYH02039351;BC004861;BU941413;CH471180;CR542084;NG_012550;NM_003785 AAC25990;AAH04861;ABM84308;ABM87701;CAG46881;EAW89934;EAW89935;NP_003776;O75459 Hs.128231 1334665;1848203;7183753 DXS1039;DXS8366 AL5;CT16.3;GAGE-9;GAGEB1;PAGE-1 G antigen 9;G antigen family B member 1;G antigen, family B, 1 (prostate associated);OTTHUMP00000032034;P antigen family member 1;prostate associated gene 1;prostate-associated gene 1 protein APPROVED protein-coding ENSG00000068985 HGNC:4107 02240 300288 REVIEWED 1604971 PAGE2 P antigen family, member 2 (prostate associated) INTERACTS WITH 5-aza-2'-deoxycytidine; cadmium atom; paracetamol X X X p11.21 58950638 58954401 + 55115497 55119260 + 55089064 55092827 + 6480464 12477932;15164054;15489334;21044950;9724777 203569 Q7Z2X7;X6R922;X6RD31 AL590240;AMYH02039496;BC054022;NM_207339 AAH54022;ADR82681;NP_997222;Q7Z2X7 Hs.662489 CT16.4;GAGEC2;GAGEE2;MGC62094;PAGE-2 G antigen family C 2;G antigen family E member 2;G antigen, family C, 2;G antigen, family E, 2;OTTHUMP00000023395;OTTHUMP00000023396;P antigen family member 2;prostate-associated gene 2 protein protein-coding ENSG00000234068 HGNC:31804 17565 300738 PROVISIONAL 1603822 PAGE2B P antigen family, member 2B INTERACTS WITH 5-aza-2'-deoxycytidine X X X p11.21 58936645 58940477 + 55101489 55105336 + 55075056 55078903 + 6480464 12477932;15772651;16341674 389860 Q5JRK9;Q5JRL0 ABBA01069567;AL590240;AMYH02039496;AX972928;BC130359;BM782405;HY192793;NM_001015038;XM_006726847 AAI30360;ADR83349;CAF18036;NP_001015038;Q5JRK9;XP_006726910 Hs.293317 CT16.5;GAGEE3;PAGE-2B G antigen, family E, 3;OTTHUMP00000023392;OTTHUMP00000023393;prostate-associated gene 2B protein;putative G antigen family E member 3 protein-coding ENSG00000238269 HGNC:31805 18616 VALIDATED 1347038 PAEP progestagen-associated endometrial protein This gene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have highly conserved exon/intron structure and three-dimensional protein folding. Most lipocalins are clustered on the long arm of chromosome 9. The encoded glycoprotein has been previously referred to as pregnancy-associated endometrial alpha-2-globulin, placental protein 14, and glycodelin, but has been officially named progestagen-associated endometrial protein. Three distinct forms, with identical protein backbones but different glycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These glycoproteins have distinct and essential roles in regulating a uterine environment suitable for pregnancy and in the timing and occurrence of the appropriate sequence of events in the fertilization process. A number of alternatively spliced transcript variants have been observed at this locus, but the full-length nature of only two, each encoding the same protein, has been determined. [provided by RefSeq, Jul 2008] 9 9 9 q34 108970476 108975523 + 138453601 138458622 + 135561755 135566776 + 1580863;6480464 11023837;11058744;11058757;11278680;11818517;11884441;12202458;12351556;12477932;12556471;12654469;12672671;12826085;14679205;14702039;14764802;14973265;15016783;15164053;15489334;15494501;15527767;15883155;16123169;16169070;16269626;16325596;16647384;16759928;17049713;17068141;17070198;17132480;17148576;17156191;17207965;17329396;17482165;17570010;17649816;17716661;17720699;18029348;18155767;18203874;18256018;18402941;18720404;19032611;19195690;19224449;19520712;19609241;19683346;19759913;19799645;19857900;19903048;19945098;20040080;2006183;2016092;20592348;20592354;20638131;20676758;20843776;20880745;20886106;2113930;21168900;21227941;21292383;21832049;21880722;21999200;2206398;22239027;22296396;22313865;22563871;22748851;22977256;23036050;23392770;23461865;23585335;23670949;2380618;24060634;24377825;2975952;3135704;3194393;3320533;3569148;3667877;3768286;6776278;7047733;7592613;7829063;8025274;8452641;8943270;9166287;9239694;9274854;9591048 5047 F2Z349;H0Y4U4;H0Y530;H0Y6A4;P09466;Q5T6T6 ABBA01030038;AK304657;AK309983;AK311007;AK311730;AK311813;AL354761;AMYH02021872;BC069451;BC069562;BC112304;BC113728;CH471090;DQ884407;J04129;M34046;M61886;NM_001018049;NM_002571;XM_005263405;XM_005263406 AAA35801;AAA35802;AAA60147;AAA60148;AAH69451;AAH69562;AAI12305;AAI13729;ABI63374;ADQ32949;ADR82852;BAG34756;BAG65432;EAW88163;EAW88164;EAW88165;EAW88166;EAW88167;EAW88168;NP_001018059;NP_002562;P09466;XP_005263462;XP_005263463 Hs.532325 1772296;5022450;5037552;5114635 D10S275;D8S2279;G06418;WI-18065 GD;GdA;GdF;GdS;MGC138509;MGC142288;PAEG;PEG;PEP;PP14 OTTHUMP00000022548;OTTHUMP00000022549;OTTHUMP00000022550;OTTHUMP00000022551;OTTHUMP00000022552;OTTHUMP00000022554;OTTHUMP00000022555;PP14 protein (placental protein 14);alpha uterine protein;glycodelin;glycodelin-A;glycodelin-F;glycodelin-S;placental protein 14;pregnancy-associated endometrial alpha-2 globulin;pregnancy-associated endometrial alpha-2-globulin;progestagen-associated endometrial protein (placental protein 14, pregnancy-associated endometrial a;progesterone-associated endometrial protein APPROVED protein-coding ENSG00000122133 HGNC:8573 01411 173310 REVIEWED 1343229 PAGE3 P antigen family, member 3 (prostate associated) INTERACTS WITH paracetamol X X X p11.21 59119938 59126253 - 55284848 55291165 - 55258415 55264732 - 6480464 12477932;15772651;9724777 139793 Q5JUK9 ABBA01069546;ABBA01069547;ABBA01069548;AL158819;AMYH02039499;BC140001;BC140741;BC144449;CH471154;NG_017195;NR_033460 AAI40002;AAI40053;AAI40742;AAI44450;EAW93220;Q5JUK9 Hs.163473 CT16.6;GAGEC1;GAGED1;PAGE-3 pseudo ENSG00000204279 HGNC:4110 18552 300739 VALIDATED 1604258 PAGE5 P antigen family, member 5 (prostate associated) This gene is a member of the GAGE family, which is expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. It may also belong to a family of CT (cancer-testis) antigens. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants have not been determined. [provided by RefSeq, Jul 2008] X X X p11.21 59081890 59085641 + 55246791 55250541 + 55220358 55224108 + 6480464;8554872 11920606;11992404;12477932;15489334;15772651;21044950;23028975 90737 Q5JUL1;Q96GU1 ABBA01069552;AJ344352;AL158819;AMYH02039498;BC009230;BC110803;BQ437151;CH471154;NM_001013435;NM_130467;XM_006724613 AAH09230;AAI10804;CAC87642;EAW93219;NP_001013453;NP_569734;Q96GU1;XP_006724676 Hs.668491 CT16;CT16.1;CT16.2;GAGEE1;PAGE-5 G antigen family E member 1;G antigen, family E, 1;OTTHUMP00000023398;OTTHUMP00000023399;OTTHUMP00000023400;P antigen family member 5;cancer/testis antigen 16.1;cancer/testis antigen family 16, member 1;cancer/testis antigen family 16, member 2;prostate-associated gene 5 protein APPROVED protein-coding ENSG00000158639 HGNC:29992 06672 REVIEWED 1606780 PAGR1 PAXIP1 associated glutamate-rich protein 1 C16ORF53 (PA1) is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008] 16 16 16 p11.2 72962445 72968733 - 29827528 29833816 + 29816207 29822495 + 6480464;9479053 22663077 12477932;15302935;15489334;17081983;17178841;17207965;17500065;19039327;19124460;19596235;21139048;21832049;22939629;23161582;24250222;24260416;24816145 79447 H3BTX0;Q9BTK6 ABBA01013117;AC009133;AC120114;AC243914;AC244166;AK026112;AL549915;BC003640;CA455544;CH471238;EF195235;NM_024516 AAH03640;ABM69249;ADQ31848;EAW79989;NP_078792;Q9BTK6 Hs.702841 1679796;1854457;2126739;7184855 D16S2588E;D16S3210;D16S383;RH17219 C16orf53;FLJ22459;GAS;MGC4606;PA1 OTTHUMP00000162997;PAXIP1-associated glutamate-rich protein 1;PAXIP1-associated protein 1;PTIP-associated 1 protein;PTIP-associated protein 1;glutamate-rich coactivator associated with SRC1;glutamate-rich coactivator interacting with SRC1/NCOA1 APPROVED protein-coding HGNC:28707 14647 612033 VALIDATED 1346380 PAGE4 P antigen family, member 4 (prostate associated) This gene is a member of the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in prostate and prostate cancer. It is also expressed in other male and female reproductive tissues including testis, fallopian tube, uterus, and placenta, as well as in testicular cancer and uterine cancer. The protein encoded by this gene shares sequence similarity with other GAGE/PAGE proteins, and also belongs to a family of CT (cancer-testis) antigens. The protein may play a role in benign and malignant prostate diseases. A related pseudogene is located on chromosome 7. [provided by RefSeq, Aug 2013] X X X p11.23 53663213 53667877 + 49593863 49598572 + 49829260 49834037 + 6480464 12477932;12489849;14702039;15362791;15489334;15772651;21357425;22885105;24263171;24559171;9724777 9506 O60829 ABBA01063286;AC231644;AF238380;AF275258;AJ005894;AK092503;AK312039;AMYH02039354;BC010897;BG435968;BG622311;BX371732;CH471180;CR456823;CR542183;NM_007003;XM_005272740;XM_005272741;XM_006724571 AAF88037;AAH10897;ABM83634;ABM86886;BAG34976;CAA06751;CAG33104;CAG46980;EAW89932;EAW89933;NP_008934;O60829;XP_005272797;XP_005272798;XP_006724634 Hs.441038 5019158 RH102933 CT16.7;FLJ35184;GAGE-9;GAGEC1;JM-27;JM27;PAGE-1;PAGE-4 G antigen family C member 1;G antigen, family C, 1;OTTHUMP00000025849;OTTHUMP00000025850;P antigen family member 4;prostate-associated gene 4 protein;prostate-associated gene protein 4 APPROVED protein-coding ENSG00000101951 HGNC:4108 02239 300287 REVIEWED 1603638 PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008] 8 8 8 q21.13 77885010 78029263 - 81880045 82024303 - 80967810 81112068 - 6480464;6484113 10790433;11163757;11684085;12477932;12665526;14665621;14702039;15489334;16160011;16413409;16636672;16947079;17143285;17389760;18056706;18070987;19581936;19913121;20379614;20388373;20561033;20628086;21092590;21156787;21388951;21822266;22027792;22659621;22994656;23022100;23671581;24163127;9334312 55824 Q9NWQ8 AA766638;ABBA01004056;AC012533;AC022778;AC079209;AF240634;AK000680;AK095177;AK289818;AMYH02018309;AMYH02018310;AMYH02018311;BC090931;BC112159;BX426120;CB960651;CH471068;KF458785;NM_018440;XM_006716461;XM_006716462 AAF67343;AAH90931;AAI12160;ACE86824;ACE87510;BAA91321;BAF82507;EAW87085;EAW87086;NP_060910;Q9NWQ8;XP_006716524;XP_006716525 Hs.266175 1643780;1689712;1695974;1735840;1761515;1786874;2120582;2120584;2167115;2171079;2219436;5024039 D16S325;D8S1436E;G20703;PAG__5815;RH93560;SHGC-145518;SHGC-63662;SHGC-80899;SHGC-82725;STS-G20703;STS-N48595;WI-16808 CBP;FLJ37858;MGC138364;PAG Csk-binding protein;OTTHUMP00000227022;phosphoprotein associated with glycosphingolipid microdomains 1;phosphoprotein associated with glycosphingolipid-enriched microdomains 1;transmembrane adapter protein PAG;transmembrane adaptor protein PAG;transmembrane phosphoprotein Cbp APPROVED protein-coding ENSG00000076641 HGNC:30043 05772;16944 605767 REVIEWED 1349698 PAFAH2 platelet-activating factor acetylhydrolase 2, 40kDa This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. [provided by RefSeq, Jul 2008] 1 1 1 p36 24682324 24720714 - 26286258 26326366 - 25959767 25998172 - 1302298;1580863;6480464;8554872 8955149 11294621;12406338;12477932;15489334;16650870;17157859;17272759;9218411;9494101 5051 Q5SY00;Q5SY01;Q99487 ABBA01034892;ABBA01034893;ABBA01034894;ABBA01034895;AK313815;AL592064;AMYH02000550;AMYH02000551;BC001158;BU630496;CH471059;D87845;NM_000437;U89386;XM_006710668;XM_006710669;XM_006710670 AAC39707;AAH01158;ABM83722;ABM87042;BAA13468;BAG36551;EAX07852;EAX07853;NP_000428;Q99487;XP_006710731;XP_006710732;XP_006710733 Hs.477083 2118472;2159106;2186884;5015619;5016851 D11S3114;RH80031;SHGC-74396;SHGC-74427;STS-N89593 FLJ26025;HSD-PLA2 OTTHUMP00000008594;OTTHUMP00000008596;SD-PLA2;platelet-activating factor acetylhydrolase 2, cytoplasmic;serine-dependent phospholipase A2 APPROVED protein-coding ENSG00000158006 HGNC:8579 03824 602344 REVIEWED 3497486 PAICSP3 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 3 6 6 6 q13 74431212 74435317 + 74036678 74040783 + 73326955 73331060 + 9847074 780810 ABBA01040312;AC019205;AMYH02013907;NG_005824 1801668;1817824;1820438;1832056;1836654;1841116;1923110;1923112;1923114;1923116;1923118;1923120;1923122;1923124;1923126;1923128;1923130;1923132;1923134;1923136;1923138;1923140;1923142;1923144;1923146;1923148;1923150;1923152;1923154;1923156;1923158;1923160;1923162;2135140;2207170;2207172;2207174;2207176;2207178;2207180 D6S2029;ECD01713;ECD09966;ECD11294;ECD17166;ECD19491;ECD21752;REN32379;REN32380;REN32381;REN32382;REN32383;REN32384;REN32385;REN32386;REN32387;REN32388;REN32389;REN32390;REN32391;REN32392;REN32393;REN32394;REN32395;REN32396;REN32397;REN32398;REN32399;REN32400;REN32401;REN32402;REN32403;REN32404;REN32405;stSG625810;stSG625811;stSG625812;stSG625813;stSG625814;stSG625815 pseudo HGNC:38096 INFERRED 1351759 PAICSP1 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 1 9 9 9 p13 37811233 37845604 + 37878058 37912432 + 37878061 37912435 + 8106516 780814 ABBA01050385;AL138752;AMYH02019504;AMYH02019505;KF459922;NG_005828 1688440;1725705;2161104;2164896;5114032 G30541;G62115;RH18244;RH75285;RH78981 pseudo HGNC:8588 INFERRED 1346725 PAICS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q12 54808286 54833908 + 57276682 57327534 + 56410516 56461368 + 1580863;5135429;633692;6480464;6907045 19850283;7742366 12477932;14702039;15146197;15489334;15680326;1574589;16169070;16189514;16501559;16964243;17353931;18781797;19060904;19135240;19738201;19946888;2004782;20201926;2075724;21044950;21110914;21139048;21145461;21319273;2183217;21890473;21906983;21963094;21987572;21988832;22053931;22118674;22505724;2253271;22586326;22632162;22797925;22863883;22939629;22990118;23000965;24250222;24550385;24816145;7821789;8106516;9108165 10606 D6RF62;E9PBS1;P22234 AA669362;ABBA01003425;AC068620;AC114766;AK001163;AK054760;AK294821;AK308527;AMYH02009256;AMYH02009257;AMYH02009258;BC010273;BC019255;BM807012;BT006988;BX538303;CF994644;CH471057;CN337183;CR749824;D28431;DB503040;NM_001079524;NM_001079525;NM_006452;U00239;X53793;XM_006714035 AAH10273;AAH19255;AAP35634;ABM83982;ABM84702;ABM87304;ABM92222;BAA05797;BAG57934;CAA37801;CAH18683;EAX05489;EAX05490;EAX05491;EAX05492;EAX05493;EAX05494;NP_001072992;NP_001072993;NP_006443;P22234;XP_006714098 Hs.518774;Hs.709570 1659050;1841116;1923148;1923150;2109623;2114775;2117794;2131044;2135364;2143256;2144248;2207178;5022578;5037552;5106625;5118800 D11S3663;D1S1423;D8S2279;ECD21752;G16719;PAICS_9154;REN32398;REN32399;RH18105;SHGC-2769;SHGC-50692;SHGC-50713;SHGC-67594;SHGC-67819;STS-U00239;stSG625814 ADE2;ADE2H1;AIRC;DKFZp781N1372;MGC1343;MGC5024;PAIS AIR carboxylase;OTTHUMP00000219411;OTTHUMP00000219412;OTTHUMP00000219413;OTTHUMP00000219414;SAICAR synthetase;multifunctional protein ADE2;multifunctional protein ADE2H1 APPROVED protein-coding ENSG00000128050 HGNC:8587 01401 172439 REVIEWED 3497485 PAICSP5 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 5 7 7 7 q35 4858 6130 - 143242134 143243404 - 143545041 143546311 - 9847074 780811 ABBA01006156;AC073264;AMYH02016969;AMYH02016970;CH236959;NG_005825 pseudo HGNC:38098 INFERRED 3497483 PAICSP7 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 7 X X X q21 94416700 94419796 - 93891502 93894598 - 94636503 94639599 - 780816 ABBA01064822;AL357354;AMYH02039988;NG_005830 pseudo HGNC:38100 INFERRED 1343084 PAICSP2 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2 9 9 9 q22 64808163 64809428 + 94373548 94374813 + 91611266 91612531 + 8106516 780815 ABBA01012855;AL159999;AMYH02021209;NG_005829 pseudo HGNC:8589 INFERRED 1354158 PAIP1P1 poly(A) binding protein interacting protein 1 pseudogene 1 6 6 6 p21.3 31752793 31754594 - 30154575 30156383 - 30186798 30188606 - 100421582;387485 ABBA01038041;AL671855;AL844220;AL845450;AMYH02013427;BX248419;BX927221;CR388382;CR759838;CR788282;NG_025805 1853002 D6S2267 bCX300M20.3;bPG254M11.3;bQB44E15.5 pseudo HGNC:18240 INFERRED 732942 PAFAH1B3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 19 19 19 q13.1 39601981 39607748 - 42801185 42806952 - 42297033 42302800 - 1580863;4107040;6480464 17330141 10727864;11285245;11522926;12477932;14733918;15057824;15489334;16169070;16189514;16236267;18781797;19622634;19738201;19946888;20360068;21044950;21139048;21844189;22461910;22505724;22623428;22863883;24816145;7669037;9144386;9693049 5050 M0QXS6;M0QZT2;M0R1K3;M0R323;M0R389;Q15102 AA432316;ABBA01040846;AC006486;AMYH02036148;BC003016;BC007863;BE048307;CB216829;CH471126;CR407626;D63391;NM_001145939;NM_001145940;NM_002573 AAD11989;AAH03016;AAH07863;BAA09706;CAG28554;EAW57122;EAW57123;EAW57124;EAW57125;EAW57126;NP_001139411;NP_001139412;NP_002564;Q15102 Hs.466831 1734670;1734692;2128055;2169385;2171800 D19S674E;D19S691E;NIB1825;RH71329;STS-AA011180 FLJ44990 PAF acetylhydrolase 29 kDa subunit;PAF-AH 29 kDa subunit;PAF-AH subunit gamma;PAF-AH1b alpha 1 subunit;PAFAH subunit gamma;PAFAHG;platelet-activating factor acetylhydrolase IB subunit gamma;platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa) APPROVED protein-coding ENSG00000079462 HGNC:8576 04354 603074 REVIEWED 1605487 PAIP2B poly(A) binding protein interacting protein 2B Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008] 2 2 2 p13.3 71260574 71304932 - 71409868 71454233 - 71182738 71227103 - 6480464 10574461;16344560;16804161;17381337 400961 Q9ULR5 AB032981;ABBA01075549;ABBA01075550;AC007878;AC007881;AC093654;AL110211;AMYH02004049;CH471053;DA247526;DA346299;NM_020459;XM_005264310;XM_005264311 AAI56858;BAA86469;EAW99774;EAW99775;NP_065192;Q9ULR5;XP_005264367;XP_005264368 Hs.416735 2147815;2149771;2166877;2180170;5022651;5115516 D11S2921;RH16647;RH36004;RH36348;RH68850;WI-14958 KIAA1155 OTTHUMP00000203601;PABP-interacting protein 2B;PAIP-2B;poly(A)-binding protein-interacting protein 2B;polyadenylate-binding protein-interacting protein 2B APPROVED protein-coding ENSG00000124374 HGNC:29200 611018 VALIDATED 4109153 PAICSP6 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 6 7 7 q35 143480220 143481372 + 143783127 143784279 + 9847074 780812 AC099548;AMYH02016938;CH236959;NG_005826 1649429;1757589;1786208 SHGC-106890;SHGC-145054;WI-12643 pseudo HGNC:38099 INFERRED 1312240 PAIP2 poly(A) binding protein interacting protein 2 ENCODES a protein that exhibits translation repressor activity; INVOLVED IN negative regulation of translational initiation; FOUND IN cytoplasm; INTERACTS WITH aldehydo-D-glucose; all-trans-retinoic acid; D-glucose 5 5 5 q31.2 134799217 134827120 + 138677519 138705409 + 139341832 139369720 + 1580863;6480464 11042152;11076863;11172725;11230166;11256614;11287632;11438674;12477932;12820898;14685257;15175342;15489334;15489336;16381901;16601676;16804161;17785442;19240791;20096703;21726813;21832049;21890473;21906983;21988832;22505724;22939629;23824909;23964095;24250222;8889548 51247 D6R9Y1;D6RA77;Q49AE6;Q9BPZ3 ABBA01068638;ABBA01068639;ABBA01068640;ABBA01068641;AC011404;AC135457;AF151052;AF317675;AK024552;AK314672;AL136640;AMYH02012317;AX405603;BC001716;BC039337;BC048106;BC062718;BI552800;BI560379;BU732743;CH471062;CR533489;DB448759;NM_001033112;NM_016480;NR_109830 AAF36138;AAH01716;AAH39337;AAH48106;AAH62718;AAK11562;ACE86852;ACE87539;BAG37228;CAB66575;CAD34710;CAG38520;CAL38574;EAW62107;EAW62108;EAW62109;EAW62110;EAW62111;EAW62112;NP_001028284;NP_057564;Q9BPZ3 Hs.396644 1740513;1780646;2217984 D5S2301E;SLC23A1_2967;bac51505T MGC72018;PAIP-2;PAIP2A OTTHUMP00000159528;OTTHUMP00000223733;OTTHUMP00000223734;PABC1-interacting protein 2;PABP-interacting protein 2;poly(A)-binding protein-interacting protein 2;polyA-binding protein-interacting protein 2;polyadenylate-binding protein-interacting protein 2 protein-coding ENSG00000120727 HGNC:17970 05726 605604 VALIDATED 735410 PAH phenylalanine hydroxylase PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008] 12 12 12 q22-q24.2 102896051 102975653 - 103232104 103311381 - 102838326 102917603 - 1358249;1601521;1601523;1601526;1580863;1300048;6480464;6907045;7240710;8554872;8699517 1361103;14654659;17443661;2884570 10200057;10472529;10679941;10694386;10784452;11172645;11180595;11214902;11326337;11385716;11461190;11461196;11524738;11678552;11708866;11718561;11855940;11935335;12056888;12096915;12126628;12173030;12185072;12200907;12210276;12379147;12477932;12603326;12603331;12640344;12649065;12653545;12655545;12655546;12655548;12655552;12765842;12777691;12782966;12833401;1301187;1301193;1301200;1301201;1301202;1301947;1312992;1326329;1349576;1355066;1358789;1360590;1363837;1363838;14568534;15060071;15135070;15192831;15300621;15313177;15459954;15464430;15489334;15556637;15730960;15793771;15917086;1601425;16086286;1609797;16256386;16402341;16545551;1671768;1671770;1671810;1671881;1672290;1672294;16755493;16765994;1679029;1679030;1682235;1682495;16917891;16935936;1709636;17096675;17207965;17502162;17557229;17627389;17630668;17633563;1769645;17924342;18184144;18247293;18294361;18299955;18346471;18374504;18387838;18447256;18538294;18769885;18798839;18937047;18937293;18956252;18985011;19036622;19062537;19062542;19086053;19099685;19147918;1915502;19161120;19199246;19268543;19292873;19360691;19394257;19444284;19485247;19629656;19674121;1968617;1971144;1971147;1975096;1975559;1978553;19786003;19915519;19938643;20017307;2006152;20082265;20140859;2014802;20187763;20188615;20301334;20301677;2035532;2044609;20457534;20468064;2063869;20667834;20937381;21154324;21811977;21890392;21988832;22333022;2246858;22513348;22526846;22698810;22763404;22808937;23074961;2309142;23220018;23296088;23856132;23932990;24078561;24350308;24510552;24510568;2461704;2564729;2574002;2606484;2615649;2816939;2840952;2872999;2986678;3008810;3615198;3856322;7581408;7668259;7807961;7833954;7860062;7981714;8068076;8088845;8095248;8097261;8098245;8116675;8364546;8370573;8401510;8406445;8487271;8594560;8696344;8825461;8829656;8889583;8889590;8990013;9016524;9048935;9101291;9169088;9406548;9450182;9450897;9521426;9600453;9642259;9792407;9792411;9843368;9852673;9950317 5053 F8W0A0;F8W1D4;J3KND8;P00439 ABBA01053223;AC069227;AF404777;AK298419;AK313383;AMYH02027078;AY722625;BC026251;CH471054;K03020;L47726;NG_008690;NM_000277;S61296;S61396;S83538;U49897 AAA60082;AAA80910;AAB50813;AAC51772;AAD13926;AAD13928;AAH26251;AAL78816;AAU11304;ADQ32100;BAG36181;BAG60644;EAW97700;EAW97701;EAW97702;NP_000268;P00439 Hs.603740 1658577;1741005;1741061;1741179;1741593;1741709;1741711;1741713;1742379;1742671;1744411;1744413;1753709;1756225;1782728;2135866;2165784;2175379;2219438;5117250;5119651 D12S1418;GDB:177363;GDB:177555;GDB:177630;GDB:178434;GDB:181551;GDB:182301;GDB:182302;GDB:182303;GDB:196577;GDB:199078;GDB:454047;GDB:454053;GDB:454059;PAH__5816;RH68979;SHGC-107607;SHGC-143102;SHGC-155640;SHGC-37493;WI-12632 PH;PKU;PKU1 OTTHUMP00000242535;OTTHUMP00000242536;phe-4-monooxygenase;phenylalanine 4-monooxygenase;phenylalanine-4-hydroxylase APPROVED protein-coding ENSG00000171759 HGNC:8582 08943 261600;612349 REVIEWED 3497484 PAICSP4 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4 8 8 8 p23.2 4619304 4672348 + 4644658 4699427 + 4787136 4841905 + 780813 ABBA01007076;AC012543;AMYH02017266;AMYH02017267;NG_005827 1663836;1695438;1749917;1853978;5106625 B348YA5;D8S1086;RH18105;SHGC-111636;SHGC-68813 pseudo HGNC:38097 INFERRED 1353310 PAK1IP1 PAK1 interacting protein 1 INVOLVED IN cell proliferation (inferred); negative regulation of signal transduction (inferred); palate development (inferred); FOUND IN nucleus; plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; calcitriol 6 6 6 p24.2 11923680 11938465 + 10695180 10710015 + 10694947 10709782 + 6480464 11371639;12165471;12429849;12477932;14574404;14702039;15302935;15316005;15489334;15761153;18029348;21097889;23935987;24654937;24816145;25011449;25027693;8125298 55003 Q9NWT1 ABBA01022084;AF283303;AK000631;AK225516;AL358777;AMYH02013098;BC010907;BU618231;CH471087;NM_017906;XM_005249204;XM_006715129 AAH10907;AAK57477;ABM83724;ABM87044;BAA91296;EAW55267;EAW55268;EAW55269;EAW55270;NP_060376;Q9NWT1;XP_005249261;XP_006715192 Hs.310231 1698628 RH102870 FLJ20624;MAK11;PIP1;RP11-421M1.5;WDR84;bA421M1.5;hPIP1 OTTHUMP00000016022;PAK/PLC-interacting protein 1;PAK1-interacting protein 1;WD repeat-containing protein 84;p21-activated protein kinase-interacting protein 1 protein-coding ENSG00000111845 HGNC:20882 07424 607811 VALIDATED 1317048 PAK4 p21 protein (Cdc42/Rac)-activated kinase 4 PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 36418829 36473610 + 39616417 39670046 + 39125780 39179406 + 1580863;6480464;6484113;6907045;7775028;7775027 16505058;20697354 10461188;10574461;11076863;11413130;11756552;12356872;12477932;12529371;14625312;14702039;15161933;15324660;15345747;15489334;15489336;15660133;15778465;15827085;16169070;16227624;16381901;16897755;17081983;17192257;17353931;17555715;17979178;18319301;18424072;18628988;18636970;18782768;18836286;19050074;19460752;19594544;19778628;20406887;20501374;20507994;20564219;20578242;20631255;20719960;20805321;20926745;20936779;21044950;21139048;21325635;21385901;21832049;21832093;21890473;22085492;22450748;22653441;22689056;22710715;22766504;22988085;23229348;23233484;23254288;23293332;23602568;23642861;23652058;23790167;23841590;23893240;23934187;23940030;24130170;24163370;24255178;24374310;24704155;9822598 10298 M0R0L9;M0R1R1;M0R2X4;M0R3G6;O96013 AB032968;ABBA01040720;ABBA01040721;AC011443;AF005046;AJ011855;AK074728;AK291839;AK293517;AK294586;AK300632;AK304651;AL834236;AMYH02036087;AX775863;AX775865;AX775867;AX775869;AX775871;BC002921;BC011368;BC025282;BC034511;BG773480;BM129363;CH471126;KC877731;NM_001014831;NM_001014832;NM_001014834;NM_001014835;NM_005884;XM_006722971;XM_006722972 AAD01210;AAH02921;AAH11368;AAH25282;AAH34511;ABM81965;ABM85144;ACT64540;ACT64541;BAA86456;BAC11166;BAF84528;BAG56999;BAG57777;BAG62322;BAG65427;CAA09820;CAD38914;CAE11631;CAE11632;CAE11633;CAE11634;CAE11635;CAL37500;CAL37629;CAL38389;EAW56858;EAW56859;EAW56860;EAW56861;EAW56862;EAW56863;EAW56864;EAW56865;EAW56866;NP_001014831;NP_001014832;NP_001014834;NP_001014835;NP_005875;O96013;XP_006723034;XP_006723035 Hs.20447 1648825;1796446;5491559 MARC_20651-20652:1024691026:1;PAK4_473;RH12716 PAK-4 p21(CDKN1A)-activated kinase 4;p21-activated kinase 4;protein kinase related to S. cerevisiae STE20, effector for Cdc42Hs;serine/threonine-protein kinase PAK 4 APPROVED protein-coding ENSG00000130669 HGNC:16059 05675 605451 REVIEWED 732793 PAK2 p21 protein (Cdc42/Rac)-activated kinase 2 The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008] 3 3 3 q29 195047767 195144272 + 196466728 196559518 + 196739857 196832647 + 729574;1579879;1580863;6480464;6484113;6907045;7775026 14612425;22886747;7744004 10047984;10075701;10200518;10320322;10461188;10571231;10607567;10748018;11070003;11121037;11160719;11345898;11448168;11463741;11604131;11805089;11895474;11943200;11956071;12176041;12215529;12226077;12237306;12453877;12477932;12549935;12734410;12823590;12829691;12853446;12855553;12907671;14749374;14965316;15031289;15047825;15047871;15187108;15194762;15234964;15252450;15471851;15489334;15638726;15847608;15908432;16081735;16204230;16272310;16281055;16282498;16344560;16374509;16501114;16527308;16617111;16687395;16837009;16867995;16912329;16916529;16964243;16979207;17077296;17081983;17353931;17543336;17555715;17586321;17632197;17632570;17707624;17881449;18030346;18094167;18176785;18319301;18344974;18411304;18653452;18716323;18808677;19240112;19242610;19322201;19324886;19628037;19683683;1985906;19923322;20056178;20131316;20147394;20209159;20523167;20594957;20691406;20696164;20724730;20936779;21098037;21116278;21177766;21321123;21336563;21555521;2160950;21724829;21819585;21832049;21841781;21850710;21890473;21892329;21906983;21988832;21994733;22103831;22103837;22103838;22175768;22323535;22393057;22505724;22534017;22537596;22651890;22844345;22863883;23227982;23317503;23455922;23499762;23559827;23746211;23847689;24025335;24434518;24621074;24816145;2500966;7556080;7618083;7673144;9075929;9151826;9395435;9535855;9786869;9822598 5062 A8K5M4;H7C1X3;Q13177 ABBA01033754;ABBA01033755;ABBA01033756;ABBA01033757;ABBA01033758;AC055725;AC127904;AI140979;AK291339;AMYH02008495;AMYH02008496;AMYH02008497;BC031667;BC046197;BC063539;BC069613;BG572555;CA445078;DB164364;DQ786200;NG_009227;NM_002577;U24153;U25975 AAA65442;AAA75468;AAH69613;BAF84028;NP_002568;Q13177 Hs.518530 1676382;1689716;1694728;1697238;1745163;1796444;5015621;5022651;5037552;5099678;5492731 AU049777;D11S2921;D11S3732;D8S2279;GDB:595844;PAK2_1023;RH102113;RH11274;RH121965;RH70587;UniSTS:482146 PAK-2;PAK65;PAKgamma;gamma-PAK;p58 OTTHUMP00000208198;S6/H4 kinase;p21 (CDKN1A)-activated kinase 2;p21-activated kinase 2;serine/threonine-protein kinase PAK 2 APPROVED protein-coding ENSG00000180370 HGNC:8591 05428 605022 REVIEWED 1313834 PAIP1 poly(A) binding protein interacting protein 1 The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 5 5 5 p12 43417454 43449931 - 43526369 43557521 - 43526267 43557419 - 6480464 10970864;11051545;11172725;11230166;11287654;11997512;12477932;14685257;15252450;15489334;16344560;18725400;19460752;19615732;19851022;21145461;21282530;21539810;21726813;21890473;22053931;22863883;22939629;23000965;24396066;24457600;24816145;9548260 10605 D6R9H8;D6RD97;D6REB4;D6RJ02;D6RJF2;H0YA44;Q9H074 ABBA01024257;ABBA01024258;ABBA01024259;AC114956;AF013758;AK308270;AL136920;AMYH02011247;AMYH02011248;BC005295;BC015937;BG430290;BG719757;CH471119;DB089732;DQ786248;NM_006451;NM_182789;NM_183323;XM_005248230 AAC39697;AAH05295;AAH15937;ABM82036;ABW03359;CAB66854;EAW56067;EAW56068;EAW56069;EAW56070;NP_006442;NP_877590;NP_899152;Q9H074;XP_005248287 Hs.482038 1689871;5094092 G34968;RH67717 MGC12360;PAIP-1 OTTHUMP00000122430;OTTHUMP00000122431;OTTHUMP00000221600;OTTHUMP00000221601;PABC1-interacting protein 1;PABP-interacting protein 1;poly(A)-binding protein-interacting protein 1;polyadenylate binding protein-interacting protein 1;polyadenylate-binding protein-interacting protein 1 APPROVED protein-coding ENSG00000172239 HGNC:16945 05539 605184 REVIEWED 1346451 PALD1 phosphatase domain containing, paladin 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; INTERACTS WITH 17beta-estradiol; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; atrazine 10 10 10 q22.1 65519663 65609972 + 72238564 72328206 + 70478808 70568450 + 6480464;8554872 10574462;12477932;14702039;15146197;19240061;19727444;21139048;21903422;21906983;22354871;24816145 27143 Q9ULE6 AB033100;ABBA01019628;ABBA01019629;ABBA01019630;ABBA01019631;AC022532;AK021806;AL355344;AMYH02023287;AMYH02023288;AMYH02023289;AMYH02023290;BC015004;BC040163;BC048195;BC136375;BC136376;CH471083;CN335744;NM_014431;XM_006717765;XM_006717766 AAI36376;AAI36377;BAA86588;EAW54404;EAW54405;EAW54406;NP_055246;Q9ULE6;XP_006717828;XP_006717829 Hs.202351 1646569;1731084;1779552;1779984;2219440 D10S292;PALD__5817;SGC30714;SHGC-153524;SHGC-154231 KIAA1274;PALD OTTHUMP00000019757;paladin;palladin APPROVED protein-coding ENSG00000107719 HGNC:23530 11419 614656 VALIDATED 731864 PAK3 p21 protein (Cdc42/Rac)-activated kinase 3 PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, serve as targets for the small GTP binding proteins Cdc42 and RAC and have been implicated in a wide range of biological activities. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then catalyzes a variety of targets. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of non-syndromic mental retardation X-linked type 30 (MRX30), also called X-linked mental retardation type 47 (MRX47). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X X q23 110667132 110943790 + 110187513 110470590 + 110944285 111227362 + 1580863;6480464;6907045;7240710;7775028;8554872;8699517 16505058 10205168;10461188;10896954;10946356;11096073;11157984;11259591;11278486;11278553;11478794;11517222;11733498;11862216;12237306;12464619;12477932;12777533;12884430;14530271;14702039;15099969;15574732;15772651;15824104;16204230;16344560;18523455;18541383;18805672;19036346;20596523;20936779;20960100;21890473;21906983;21949127;22505724;23622267;23818969;24816145;8687195;8826460;9065412;9234708;9332663;9659915;9722579;9726964;9731525;9823899 5063 B1AKS5;B2RCU6;O75914 AB102251;AB102252;AB102253;AB102254;AB102255;AB102256;AB102257;AB102258;AB102259;AB102260;AB102261;AB102262;AB102263;AB102264;AB102265;AB102266;AB102267;AB102268;AB102269;AB102270;AB102281;AB102282;AB102283;AB102284;AB102285;AB102286;AB102287;AB102288;AB102289;AB102290;AB102291;AB102292;AB102293;AB102294;AB102295;AB102296;AB102297;AB102298;AB102299;AB102300;AB102659;ABBA01043324;ABBA01043325;ABBA01043326;ABBA01043327;ABBA01043328;ABBA01043329;ABBA01043330;ABBA01043331;ABBA01043332;ABBA01043333;ABBA01043334;ABBA01043335;ABBA01043336;ABBA01043337;ABBA01043338;ABBA01043339;ABBA01043340;ABBA01043341;ABBA01043342;ABBA01043343;ABBA01043344;ABBA01043345;ABBA01043346;ABBA01043347;ABBA01043348;ABBA01043349;ABBA01043350;ABBA01043351;ABBA01043352;ABBA01043353;ABBA01043354;ABBA01043355;ABBA01043356;ABBA01043357;ABBA01043358;ABBA01043359;ABBA01043360;ABBA01043361;AF068864;AF155651;AI298548;AK124702;AK128022;AK290504;AK315284;AL031117;AL117326;AL356578;AL357774;AL590809;AM943850;AM943851;AM943852;AMYH02040233;AMYH02040234;AMYH02040235;BC117353;BC117355;BC143544;BQ268758;CH471120;DA022842;DA957724;DB563607;NG_008288;NM_001128166;NM_001128167;NM_001128168;NM_001128172;NM_001128173;NM_002578;XM_005262132;XM_005262133;XM_006724654;XM_006724655;XM_006724656;XR_244474 AAC36097;AAF67008;AAI52762;BAC80750;BAC80751;BAC80752;BAC80753;BAC80754;BAC80755;BAC80756;BAC80757;BAC80758;BAC80759;BAC80760;BAC80761;BAC80762;BAC80763;BAC80764;BAC80765;BAC80766;BAC80767;BAC80768;BAC80769;BAC80780;BAC80781;BAC80782;BAC80783;BAC80784;BAC80785;BAC80786;BAC80787;BAC80788;BAC80789;BAC80790;BAC80791;BAC80792;BAC80793;BAC80794;BAC80795;BAC80796;BAC80797;BAC80798;BAC80799;BAC81128;BAF83193;BAG37693;CAQ16016;CAQ16017;CAQ16018;EAX02653;EAX02654;NP_001121638;NP_001121639;NP_001121640;NP_001121644;NP_001121645;NP_002569;O75914;XP_005262189;XP_005262190;XP_006724717;XP_006724718;XP_006724719 Hs.593599;Hs.656789 1649695;1670341;1682597;1691672;1702070;1712565;1747901;1776802;1797942;2124377;2139759;2141969;5022806 AFM317wb9;AL031080;AL032605;DCX;DXS6944E;DXS7037E;DXS7481;DXS8346;G66773;PAK3_2323;RH66644;SHGC-32136;U39738 CDKN1A;MRX30;MRX47;OPHN3;PAK-3;PAK3beta;bPAK;beta-PAK;hPAK3 OTTHUMP00000023855;OTTHUMP00000023856;OTTHUMP00000226621;OTTHUMP00000226622;oligophrenin-3;p21 (CDKN1A)-activated kinase 3;p21-activated kinase 3;serine/threonine-protein kinase PAK 3 APPROVED protein-coding ENSG00000077264 HGNC:8592 02142 300142;300558 REVIEWED 1344376 PALM paralemmin This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 68034 107470 - 708953 748330 + 708953 748330 + 724596;1580863;6480464;8554872 9813098 12477932;14702039;14978216;15057824;15146197;15342556;15489334;16344560;16386234;17081983;17207965;21044950;21906983;8889548;9039502;9615234 5064 B7Z6Y8;O75781 ABBA01002586;ABBA01002587;ABBA01002588;AC004030;AC005763;AK022919;AK301181;AK315168;AMYH02035119;AMYH02035120;AMYH02035121;BC019596;BC032449;BM667870;BP199809;BU508077;CH471242;CN344023;D87460;DA521203;KF456463;NM_001040134;NM_002579;XM_005259565;XM_005259566;XM_006722761;Y14770;Y16270;Y16271;Y16272;Y16273;Y16274;Y16275;Y16276;Y16277;Y16278 AAC62429;AAH32449;ADQ31814;BAA13400;BAG37611;BAG51135;BAH13424;CAA76151;CAA76152;CAB37400;CAB37401;EAW61161;EAW61162;EAW61163;EAW61164;NP_001035224;NP_002570;O75781;XP_005259622;XP_005259623;XP_006722824 Hs.631841 2155534;2161779 RH68314;STS-N25536 KIAA0270 paralemmin-1 APPROVED protein-coding ENSG00000099864 HGNC:8594 09734 608134 REVIEWED 1350120 PALM2 paralemmin 2 INVOLVED IN regulation of cell shape (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; arsenous acid; benzo[a]pyrene 9 9 9 q31.3 82902408 83215479 + 112403068 112713756 + 109640788 109951476 + 1580863;6480464;8554872 11181995;11478809;12477932;14702039;15164053;15489334;18978678;19893584;20306291;20379614;22456796;22939629;23251661;8889548 114299 C9JA33;C9JZH4;Q8IXS6 ABBA01042756;ABBA01042757;ABBA01042758;ABBA01042759;ABBA01042760;AJ312216;AK095003;AL135789;AMYH02021441;AMYH02021442;AMYH02021443;BC039306;BQ187933;CH471105;NM_001037293;NM_053016 AAH39306;BAC04472;CAC59693;EAW59053;EAW59056;NP_001032370;NP_443749;Q8IXS6 Hs.591908 1340573;1713861;1721617;1722393;1726773;1738287;1756019;1761685;1765345;1768638;2219442;5015961;5016675 D15S1477;D9S2026;D9S311;D9S953;G59819;G60269;G62776;PALM2__5819;RH119362;RH79740;SHGC-142833;SHGC-145662;SHGC-148840 AKAP2 A kinase (PRKA) anchor protein 2;OTTHUMP00000021888;OTTHUMP00000021889;OTTHUMP00000021890;OTTHUMP00000215851;OTTHUMP00000215852;paralemmin-2 protein-coding HGNC:15845 17817 VALIDATED 1346880 PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 11 11 11 q13-q14 74340698 74492467 - 77033060 77185108 - 77322015 77474063 - 1580863;2299169;2299165;2299166;2299167;2299168;2299159;2299164;2299157;2299171;6480464;6484113;6907045;8554872 12165855;16705121;16753589;17486065;17533742;17621631;17997827;18167251;18347024 10026169;10092231;10205168;10330410;10330411;10358014;10360579;10372803;10461188;10551809;10559302;10559936;10611223;10652353;10684602;10706722;10713183;10772928;10802735;10805734;10938077;10967094;10975528;10995762;11030651;11130076;11134022;11157752;11278241;11278486;11340065;11371639;11382770;11397816;11463741;11557983;11604131;11604394;11689886;11719502;11733498;11748279;11804587;11864573;11948406;11950587;11950598;11950930;11956071;12006652;12009866;12011045;12085993;12089369;12138087;12151336;12154000;12189148;12198493;12228228;12237306;12374744;12453877;12477932;12522133;12531429;12551923;12560069;12606577;12624090;12650940;12734410;12855698;12879077;12887916;12887923;12912914;12937139;12944407;14530270;14579272;14580336;14607331;14694110;14702039;14707132;14749719;14759364;14970201;15047871;15059930;15075243;15161701;15169762;15193260;15225553;15324660;15333633;15345747;15350535;15378030;15489334;15542607;15556869;15561713;15597056;15611088;15638726;15652748;15673687;15684429;15688026;15735674;15735692;15749698;15761153;15784622;15824732;15831477;15833848;15849194;15864311;15893667;15975516;16002401;16002993;16025104;16026643;16033904;16091223;16101281;16204230;16246732;16278681;16344560;16407834;16413544;16449192;16452229;16490785;16551621;16611744;16678097;16800003;16845324;16964243;17012749;17018616;17255101;17355222;17420447;17491012;17609315;17911169;17981134;18006851;18029348;18065495;18086875;18160398;18314909;18319303;18344974;18354494;18392133;18411304;18448666;18586681;18653452;18656238;18676874;18716323;18787380;18854161;18922890;18923061;19136554;19146681;19162178;19165420;19296259;19298660;19327867;19520772;19557173;19574218;19610058;19628037;19667065;19747561;19819966;19910486;20001745;20056178;20079895;20083228;20131316;20171953;20179234;20213082;20379614;20400510;20413688;20417602;20426825;20457839;20508983;20523167;20526801;20591216;20594957;20595063;20729389;20811717;20936779;21070974;21139048;21209852;21310649;21474670;21562048;21653999;21719533;21722895;21727092;21748785;21822311;21832049;21892329;21900206;21906983;21969371;21982772;21988832;22096607;22100495;22105346;22105362;22130069;22153498;22252525;22293972;22369945;22416254;22419666;22458949;22465675;22493453;22505724;22845716;22848689;22945935;22983922;23017497;23019370;23038262;23055517;23227982;23233484;23246867;23258534;23300274;23317503;23321640;23333386;23338047;23340249;23393142;23455922;23499762;23503679;23516476;23535073;23559827;23576562;23613712;23622267;23653349;23737530;23744893;23746211;23811286;23885116;23986795;24236193;24276241;24347489;24811999;24816145;24859002;25019394;7744004;7797518;8107774;8108442;8709241;8709288;8805275;8824201;8862424;8939608;9032240;9070423;9234708;9298982;9351825;9371615;9395435;9528787;9533029;9535855;9659915;9705280;9774440;9774445;9792838;9823899;9851874;9852149 5058 B3KNX7;E9PJF8;E9PKH9;E9PM17;E9PMP2;E9PQW5;E9PRP6;H0YCG5;H0YCM0;H0YF55;Q13153 ABBA01017432;ABBA01017433;ABBA01017434;AF071884;AK055228;AK293098;AK295344;AK296006;AMYH02025133;AMYH02025134;AMYH02025135;AP000486;AP003680;BC050377;BC109298;BC109299;BE501896;BE502192;BI793123;BM451179;CH471076;DA393732;KC877441;KC877442;KC877443;KF455420;NG_029900;NM_001128620;NM_002576;U24152;U51120;XM_005274025;XM_006718572;XM_006718573;XM_006718574;XM_006718575;XM_006718576 AAA65441;AAC24716;AAC50590;AAI09300;ACE87778;ACT64444;BAF85787;BAG51489;BAH12038;BAH12236;EAW75026;EAW75027;EAW75028;EAW75029;NP_001122092;NP_002567;Q13153;XP_005274082;XP_006718635;XP_006718636;XP_006718637;XP_006718638;XP_006718639 Hs.435714 1334542;1338617;1646421;1664523;1687055;1737735;1790195;1792288;1797940;2146417;2147721 AI072234;D11S1789;D11S3332;D11S4079;D11S4697;D11S4714;PAK1_2112;PMC140666P2;RH94191;SHGC-35393;WI-19865 MGC130000;MGC130001;PAK-1;PAKalpha;alpha-PAK;p65-PAK OTTHUMP00000228567;OTTHUMP00000228568;OTTHUMP00000228569;OTTHUMP00000228570;STE20 homolog, yeast;p21-activated kinase 1;p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast);p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related);serine/threonine-protein kinase PAK 1 APPROVED protein-coding ENSG00000149269 HGNC:8590 03995 602590 REVIEWED 1603446 PALM2-AKAP2 PALM2-AKAP2 readthrough PALM2-AKAP2 mRNAs are naturally occurring read-through products of the neighboring PALM2 and AKAP2 genes. The significance of these read-through mRNAs and the function the resulting fusion protein products have not yet been determined. Alternative splicing of this gene results in several transcript variants encoding different isoforms, but the full-length nature of some of these variants has not been defined. [provided by RefSeq, Oct 2010] 9 9 9 q31.3 83044274 83436417 + 112542577 112934792 + 109780297 110172512 + 6480464;8554872 10231032;11181995;11478809;12477932;12646697;12672969;17273791;19893584;20379614;20967262;21906983;22863883;23251661;23455922;24281739;9497389 445815 B1ALY0;Q9Y2D5 AB023137;ABBA01042752;ABBA01042753;ABBA01042754;ABBA01042755;ABBA01042756;ABBA01042757;ABBA01042758;AJ303079;AJ312217;AL158823;AL158829;AL353598;AL353806;AL627225;AMYH02021441;AMYH02021442;AMYH02021443;AMYH02021444;AMYH02021445;AMYH02021446;AMYH02021447;AMYH02021448;BC140818;BX649126;CH471105;NM_007203;NM_147150 AAI40819;BAA76764;CAC38839;CAC59702;EAW59051;EAW59052;EAW59054;EAW59055;EAW59057;NP_009134;NP_671492 Hs.591908 1340573;1656172;1699026;1700112;1704536;1719999;1727381;1749595;1753827;1755889;1761685;1765345;1779502;2122605;2185400;2219442;5105685 D9S2026;G36153;G63098;PALM2__5819;RH103086;RH103669;RH123977;SHGC-100579;SHGC-111282;SHGC-142729;SHGC-142818;SHGC-145662;SHGC-148840;SHGC-153477;SHGC-83065;STS-AA007589;STS-AA040279 AKAP2;DKFZp686H1948 OTTHUMP00000021887;OTTHUMP00000021889;OTTHUMP00000215853;PALM2-AKAP2 readthrough transcript APPROVED protein-coding ENSG00000157654 HGNC:33529 09197;18661 VALIDATED 1604638 PALLD palladin, cytoskeletal associated protein This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 q32.3 166748020 167180983 + 169418215 169849608 + 168497066 168928457 + 2325782;2325786;2325781;2325779;6480464;7240710;8554872 12932445;17194196;17404500;20436683 10231032;10810093;10931874;11309420;1159819;11598191;11870593;12191018;12477932;12601173;14702039;15147863;15310273;15489334;15815621;16009940;16125169;16175505;16344560;16355270;16367745;16794588;16964243;17081983;17228136;17287340;17322171;17415588;17455999;17515952;17525332;17537434;17687002;17967605;17975119;18073581;18521091;18978809;19023099;19056482;19205907;19336541;19709766;19752551;19913121;20379614;20471940;20628086;20708005;20811713;21050850;21054356;21139048;21738681;21782789;21868544;21906983;22216253;22291919;22939629;22990118;23000965;24816145 23022 B2RTX2;D6R948;D6R9F5;D6R9Z5;D6RBB1;D6RBH5;F8WA26;H0Y952;H0YA05;Q8WX93 AB023209;ABBA01070331;ABBA01070332;ABBA01070333;AC079858;AC079926;AC080188;AC084353;AC115538;AF077041;AF151909;AF464873;AI418424;AK000845;AK025843;AK095512;AK096458;AL050093;AMYH02010472;AMYH02010473;AMYH02010474;AMYH02010475;AMYH02010476;AMYH02010477;AMYH02010478;AW248292;AY211921;BC013867;BC140850;BC144666;BX537391;CH471056;DA048169;DA211938;DB257974;NG_013376;NM_001166108;NM_001166109;NM_001166110;NM_016081;XM_005262861;XM_005262862;XM_005262863;XM_005262864;XM_005262865;XM_005262866 AAD27774;AAD34146;AAH13867;AAI40851;AAI44667;AAL69964;AAO65174;AAY40987;BAA76836;BAC04796;BAG53074;CAB43265;CAD97633;EAX04799;NP_001159580;NP_001159581;NP_001159582;NP_057165;Q8WX93;XP_005262918;XP_005262919;XP_005262920;XP_005262921;XP_005262922;XP_005262923 Hs.151220 1334754;1335511;1336329;1338644;1655691;1659531;1659972;1660455;1670293;1695096;1701380;1735358;1751951;1755495;1755697;1759125;1763575;1764073;1766421;1768552;1779442;1854873;1857380;2122924;2125755;2130125;2132514;2169329;2170245;2170617;2172039;2173464;2173941;2182074;2183301;5491740;7186907;7187936 AFMA054YF9;AFMa142xd5;D4S1597;D4S2414;D4S2483E;D4S2979;D4S3030;D4S3154;D4S3301;D4S393;D4S698;G01956;G17047;G34351;KIAA0922;RH104320;RH18402;SHGC-105947;SHGC-142357;SHGC-142536;SHGC-147272;SHGC-147727;SHGC-14903;SHGC-149759;SHGC-150566;SHGC-153423;SHGC-31316;SHGC-50161;SHGC-51345;SHGC-51601;SHGC-51756;SHGC-64128;SHGC-67262;SHGC-67960;SHGC-8537;SHGC4-1494;SHGC4-1674 CGI-151;CGI151;FLJ22190;FLJ38193;FLJ39139;FLJ61376;KIAA0992;MYN;PNCA1;SIH002 OTTHUMP00000219711;OTTHUMP00000219712;OTTHUMP00000219714;OTTHUMP00000219715;myoneurin;palladin;sarcoma antigen NY-SAR-77 APPROVED protein-coding ENSG00000129116 HGNC:17068 09731 606856;608092 REVIEWED 1314703 PAK6 p21 protein (Cdc42/Rac)-activated kinase 6 This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 15 15 15 q14 17275604 17335680 + 40509629 40569688 + 40217428 40277487 + 1580863;6480464;6907045;8554872 11278661;11773441;12477932;14573606;15489334;15550393;16344560;17353931;17584649;18465753;18642328;18676680;19170196;19362342;19625176;19692168;20054820;20070256;20453000;20524398;20817787;20936779;21832049;21900206;21988832;22087225;22339630;22623531;22939624;23132866;23251661;23685956;24130878;24352566;24576777 56924 H0YK38;H0YK74;H0YK91;H0YKB6;H0YL02;H0YL16;H0YL47;H0YLZ9;H0YM99;H0YMS4;Q9NQU5 ABBA01038455;ABBA01038456;ABBA01038457;AC020658;AC025429;AF276893;AJ236915;AK026592;AK131522;AK290227;AK315813;AK315817;AMYH02030234;AMYH02030235;AX139133;BC035596;CH471125;CS300520;DA191028;DA229537;DA414215;HH961848;HY128655;NG_033169;NM_001128628;NM_001128629;NM_001276717;NM_001276718;NM_020168 AAF82800;AAH35596;ABM83035;ABM86229;BAF82916;BAF98704;BAF98708;BAG54772;CAC18720;CAC39969;CAK32184;CBX51397;EAW92395;EAW92396;EAW92397;EAW92398;EAW92399;EAW92400;EAW92401;NP_001122100;NP_001122101;NP_001263646;NP_001263647;NP_064553;Q9NQU5 Hs.513645;Hs.732375;Hs.745440 1673098;1700574;1707852;1715713;1796448;2118217;2119104;2171962;5014053 D1S3693;PAK6_1025;RH103909;RH119303;RH15701;RH46590;SHGC-56872;SHGC-82160;WI-21468 PAK-5;PAK-6;PAK5 OTTHUMP00000160372;p21(CDKN1A)-activated kinase 6;p21-activated kinase 6;p21-activated protein kinase 6;serine/threonine-protein kinase PAK 6 APPROVED protein-coding ENSG00000137843;ENSG00000259288 HGNC:16061 06426 608110 REVIEWED 735807 PAM peptidylglycine alpha-amidating monooxygenase This gene encodes a multifunctional protein. It has two enzymatically active domains with catalytic activities - peptidylglycine alpha-hydroxylating monooxygenase (PHM) and peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL). These catalytic domains work sequentially to catalyze neuroendocrine peptides to active alpha-amidated products. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene but some of their full length sequences are not yet known. [provided by RefSeq, Jul 2008] 5 5 5 q14-q21 98149342 98314632 + 102201527 102366809 + 102755276 103031105 + 1580863;1357926;2302427;6480464;6483769;6483575;6483514;6483527;8554872 11221851;11742033;11874690;17138865;18818385;8940376 10574929;11668475;12364573;12477932;12699694;1448112;14559897;15489334;15840729;16107699;16344560;17081983;19199708;19571808;19693765;19946888;20351714;20379614;20534529;21890473;21906983;22080626;22554821;23000965;2357221;24464100;7590286;7606087;7760848;7999037;8094086;8102327;8144680;8288234;8486658;8518727;8530412;8543779;8619474;9110174;9139723;9562574;9837933 5066 D6R961;D6RAQ2;D6RCD5;D6RDU2;D6RF09;D6RG20;F8W8D9;H0Y9I4;H7BYD9;P19021 AB095007;ABBA01069149;ABBA01069150;AC008501;AC008779;AC010250;AC113373;AF010472;AF035320;AK290158;AK296521;AMYH02011878;AMYH02011879;BC018127;BI966687;BT007419;CH471086;DA240822;HI573898;HI573900;HI573902;HI573904;M37721;NG_029444;NM_000919;NM_001177306;NM_138766;NM_138821;NM_138822;NR_033440;S75037;S75038;U19965;U19966;XM_006714632;XM_006714633;XM_006714634;XM_006714635;XM_006714636;XM_006714637;XM_006714638;XM_006714639;XM_006714640 AAA36414;AAB32775;AAB32776;AAB88190;AAB91431;AAB91432;AAD01439;AAH18127;AAP36087;BAC22594;BAF82847;BAG59152;CBX47438;CBX47439;CBX47440;CBX47441;EAW49084;EAW49085;EAW49086;EAW49087;EAW49088;EAW49089;EAW49090;EAW49091;EAW49092;NP_000910;NP_001170777;NP_620121;NP_620176;NP_620177;P19021;XP_006714695;XP_006714696;XP_006714697;XP_006714698;XP_006714699;XP_006714700;XP_006714701;XP_006714702;XP_006714703 Hs.369430 1664656;1712228;1713079;1735484;1771310;2131546;2149350;2169593;5016502 D5S1604E;D5S2479;D5S2683;G54022;GDB:574038;L28188;RH120327;RH67974;STS-M37721 PAL;PHM OTTHUMP00000158920;OTTHUMP00000158921;OTTHUMP00000158922;OTTHUMP00000158923;OTTHUMP00000222752;OTTHUMP00000222753;OTTHUMP00000227957;pancreatic peptidylglycine alpha-amidating monooxygenase;peptidyl alpha-amidating enzyme;peptidyl-alpha-hydroxyglycine alpha-amidating lyase;peptidyl-glycine alpha-amidating monooxygenase;peptidylamidoglycolate lyase;peptidylglycine 2-hydroxylase;peptidylglycine alpha-hydroxylating monooxygenase APPROVED protein-coding ENSG00000145730 HGNC:8596 01361 170270 REVIEWED 2803038 PALM3 paralemmin 3 ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN negative regulation of cytokine-mediated signaling pathway; response to lipopolysaccharide; Toll signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); plasma membrane (inferred); INTERACTS WITH valproic acid; potassium dichromate (ortholog) 19 19 19 p13.12 14057978 14063772 - 14164179 14172908 - 14053367 14062098 - 6480464;8554872 10737800;15057824;21187075 342979 A6NDB9;K7EKN5 ABBA01029694;ABBA01029695;AC022098;AMYH02035598;AMYH02035599;AW130597;BG014761;CR747190;NM_001145028;XM_005259891 A6NDB9;NP_001138500;XP_005259948 Hs.444298 1847250 D19S662E paralemmin-3 protein-coding ENSG00000187867 HGNC:33274 VALIDATED 1348496 PAN2 PAN2 poly(A) specific ribonuclease subunit This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 12 12 12 q13.2 56362795 56381209 - 56710007 56727837 - 56316223 56334053 - 6480464;8554872 11148209;12477932;12838346;14583602;14702039;14715245;15489334;16284618;16344560;16964243;17785442;18056425;19615732;19913121;20628086;21139048;21890473;23105109;23398456;24144296;24816145;24880343;9734811 9924 F8VXK8;Q504Q3 AB014610;AB107585;ABBA01008420;ABBA01008421;ABBA01008422;AC025574;AC073896;AK001232;AK096679;AK310822;AMYH02026566;AMYH02026567;BC024043;BC094885;BX648106;CH471054;DB290197;DB458902;NM_001127460;NM_001166279;NM_014871 AAH24043;AAH94885;BAA31685;BAD02263;BAG50873;EAW96928;EAW96929;EAW96930;EAW96931;EAW96932;NP_001120932;NP_001159751;NP_055686;Q504Q3 Hs.273397 1643727;1746819;1773084;1782602;2110027;5109281 D1S1425;G64805;RH47494;SHGC-142707;STS-W80474;USP52_9019 FLJ39360;KIAA0710;USP52;hPAN2 OTTHUMP00000243750;OTTHUMP00000243751;OTTHUMP00000243752;PAB-dependent poly(A)-specific ribonuclease subunit 2;PAB-dependent poly(A)-specific ribonuclease subunit PAN2;PAB1P-dependent poly(A)-nuclease;PABP-dependent poly(A) nuclease 2;PAN deadenylation complex catalytic subunit 2;PAN2 poly(A) specific ribonuclease subunit homolog;PAN2 polyA specific ribonuclease subunit;inactive ubiquitin carboxyl-terminal hydrolase 52;ubiquitin specific peptidase 52;ubiquitin specific protease 52 APPROVED protein-coding ENSG00000135473 HGNC:20074 15640 REVIEWED 1604026 PAMR1 peptidase domain containing associated with muscle regeneration 1 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; cisplatin 11 11 11 p13 35600693 35694461 - 35453374 35551848 - 35431827 35530300 - 6480464;8554872 12477932;12975309;14702039;15111323;20379614;23897914;24068947 25891 B7Z4A8;B7Z6E5;E9PMN5;E9PQ70;Q6UXH9 ABBA01060857;ABBA01060858;ABBA01060859;ABBA01060860;AC090625;AF370388;AK027841;AK297092;AK300185;AK316188;AL050214;AL354921;AL832391;AMYH02024593;AMYH02024594;AY358346;BC038457;BC089434;BX640676;CH471064;KF510369;NM_001001991;NM_001282675;NM_001282676;NM_015430 AAH89434;AAQ15224;AAQ88712;BAB55404;BAH12494;BAH13231;BAH14559;CAB43317;CAE45808;CAI46203;EAW68140;NP_001001991;NP_001269604;NP_001269605;NP_056245;Q6UXH9 Hs.55044 1703428;1711276;1723107;1726963 G62727;RH123740;SHGC-68804;SHGC-89277 DKFZP586H2123;FP938;RAMP OTTHUMP00000232625;OTTHUMP00000232626;OTTHUMP00000232627;OTTHUMP00000232628;inactive serine protease PAMR1;peptidase domain-containing protein associated with muscle regeneration 1;regeneration associated muscle protease;regeneration-associated muscle protease homolog protein-coding ENSG00000149090 HGNC:24554 07104 VALIDATED 5131763 PAN3-AS1 PAN3 antisense RNA 1 INTERACTS WITH valproic acid 13 13 13 q12.2 9786081 9788412 - 28710980 28713311 - 28136843 28139174 - 6480464 12477932 100288730 ABBA01035729;AK307165;AL356915;AMYH02027765;BC045730;DC343344;NR_029383 Hs.123191 1737425;2166163 D13S996;RH45108 APPROVED ncrna HGNC:39932 VALIDATED 1603874 PAN3 PAN3 poly(A) specific ribonuclease subunit ENCODES a protein that exhibits poly(A)-specific ribonuclease activity; INVOLVED IN RNA phosphodiester bond hydrolysis, exonucleolytic; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN PAN complex; INTERACTS WITH benzo[a]pyrene diol epoxide I; diazinon; hydrogen peroxide 13 13 13 q12.2 9787744 9944258 + 28710997 28869475 + 28136860 28295338 + 6480464;8554872 12477932;12975309;14583602;14702039;15057823;15489334;17785442;18029348;18056425;19322201;19615732;20309963;21139048;21906983;22505724;23398456;24816145;24880343 255967 Q58A45;Q6ZMN5 AB107584;AB109552;ABBA01035726;ABBA01035727;ABBA01035728;ABBA01035729;AK091307;AK131556;AK296435;AL138712;AL356915;AMYH02027765;AMYH02027766;AMYH02027767;AMYH02027768;AY358261;BC024318;BC128179;BC128180;BE671612;BX647740;CH471075;NM_175854;XM_005266332;XM_005266333;XM_005266334;XM_006719799;XM_006719800;XM_006719801;XM_006719802 AAH24318;AAI28180;AAI28181;AAQ88628;BAC03632;BAD02262;BAD18690;BAD93184;BAH12353;CAI45987;EAX08430;NP_787050;Q58A45;XP_005266389;XP_005266390;XP_005266391;XP_006719862;XP_006719863;XP_006719864;XP_006719865 Hs.645015 1648830;1666954;1668933;1670822;1673741;1680313;1704490;1711298;1737425;1739799;1773090;1849535;1851841;2126064;2137339;2154472;2166163;2180271;5017749;5093666;5093736 A006U27;A009U34;A009V42;D13S1215E;D13S996;G31458;G32852;G32893;PAN3;RH15685;RH44945;RH45108;RH45240;RH45261;RH66714;RH93771;SGC34512;SHGC-4662;SHGC-82992;SHGC-84900;SHGC-9475 hPan3 OTTHUMP00000018179;OTTHUMP00000018180;PAB-dependent poly(A)-specific ribonuclease subunit 3;PAB-dependent poly(A)-specific ribonuclease subunit PAN3;PAB1P-dependent poly(A)-nuclease;PABP-dependent poly(A) nuclease 3;PABP1-dependent poly A-specific ribonuclease subunit PAN3;PAN deadenylation complex subunit 3;PAN3 poly(A) specific ribonuclease subunit homolog APPROVED protein-coding ENSG00000152520 HGNC:29991 17818 VALIDATED 7204600 PANDAR promoter of CDKN1A antisense DNA damage activated RNA 6 p21.2 36673621 36675126 - 21642992 101154753 ABBA01038265;AL121715;AMYH02013558;JF803844;NR_109836 Hs.741557 PANDA ncrna HGNC:44048 VALIDATED 1313763 PALMD palmdelphin INVOLVED IN regulation of cell shape (inferred); FOUND IN cytoplasm (inferred); dendritic spine (inferred); membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 8-bromo-3',5'-cyclic AMP 1 1 1 p22-p21 98366338 98414955 + 100111431 100160097 + 99645875 99694541 + 1580863;6480464 11478809;11707320;12477932;14702039;15489334;15851553;17081983;19531213;19584346;20379614 54873 Q9NP74;S4R313 ABBA01045449;AC105270;AF262379;AJ312214;AK000278;AK024654;AL390969;AL390970;AL390971;AL390972;AL390973;AMYH02001548;BC012570;BX648213;CH471097;CK429905;KF454993;NM_017734 AAH12570;AAL33879;BAA91047;BAB14946;CAC01335;CAC01336;CAC01337;CAC01338;CAC59692;EAW72989;EAW72990;NP_060204;Q9NP74 Hs.483993 1679900;1719347;1736070;2144622;2153104;2165445;2174149 D1S2012E;RH123400;RH80110;SHGC-75211;SHGC-75219;SHGC-75221;WI-11664 C1orf11;FLJ20271;PALML OTTHUMP00000012464;paralemmin-like protein;paralemnin-like protein protein-coding ENSG00000099260 HGNC:15846 06673 610182 VALIDATED 1321488 PANK3 pantothenate kinase 3 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008] 5 5 5 q34 164017978 164041945 - 167982628 168006614 - 168555623 168579609 - 731233;1580863;6480464;6907045 11479594 12477932;14702039;15489334;1695905;17631502;18029348;18976975;19322201;20797618;21139048;21890473;21906983;23000965;24816145;2981478;8125298 79646 E5RHA5;Q9H999 AA831520;ABBA01044122;AC020894;AK022961;AK223285;AMYH02012700;BC013705;BC047113;BK000011;BX648891;CB045475;CH471062;M55536;NM_024594 AAH13705;BAB14333;BAD97005;DAA00005;EAW61503;EAW61504;EAW61505;NP_078870;Q9H999 Hs.388400;Hs.591729 1676316;1777882;1780516;1788442;1854298;2153634;2170900 RH68356;RH69142;RH93527;UniSTS:14879;WI-15765;bac51013S;fe05g09.x1 DKFZp686O22247;FLJ12899;MGC16863;hPanK3 OTTHUMP00000160961;pantothenic acid kinase 3 APPROVED protein-coding HGNC:19365 07312 606161 REVIEWED 1312259 PANK1 pantothenate kinase 1 This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011] 10 10 10 q23.31 85089566 85152033 - 91339254 91405329 - 89579497 89645572 - 1580863;6480464;6907045 11479594;11809413;12379284;12477932;14523052;15161933;15164054;15489334;16385451;17631502;18029348;18187620;19060910;19322201;20379614;20833636;22912811;23343762;2981478 53354 Q8TE04 ABBA01021945;AF355198;AK057932;AK125428;AK127777;AL157400;AMYH02023510;AMYH02023511;AMYH02023512;AY027661;AY027662;AY027663;BC026296;BC036934;BK000008;BK000009;CH471066;NG_029474;NM_138316;NM_148977;NM_148978;XM_005269902 AAH26296;AAI56382;AAI72476;AAK20916;AAK20917;AAK20918;AAL86371;BAG54195;BAG54569;DAA00002;DAA00003;EAW50130;EAW50131;EAW50132;EAW50133;NP_612189;NP_683878;NP_683879;Q8TE04;XP_005269959 Hs.163555 1663081;1664752;1664754;1727855;1754383;1782076;1847789;2122780;2126787;2142077;2159220;2219446;5015619;5037552 A005K48;D11S3114;D8S2279;G20295;G63343;PANK1__5821;RH78326;SHGC-132396;SHGC-154001;SHGC-2617;STS-F09841;STS-Z40596;WI-11734;WI-18510 MGC24596;PANK;PANK1a;PANK1b;hPanK;hPanK1 OTTHUMP00000020071;OTTHUMP00000020072;pantothenic acid kinase 1 APPROVED protein-coding ENSG00000152782 HGNC:8598 07549 606160 REVIEWED 1605949 PALB2 partner and localizer of BRCA2 This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008] 16 16 16 p12.2 22392663 22430856 - 23614481 23652678 - 23603162 23641357 - 2325776;2325779;6480464;7240710;8554872;8699517 19264984;20436683 12477932;14702039;15174051;15302935;15489334;16344560;16793542;17200668;17200671;17200672;17287723;17420451;17554300;18053174;18281473;18288683;18302019;18446436;18501021;18557994;18628482;18637200;18794107;19011769;19268590;19308021;19328558;19333784;19369211;19383810;19423707;19504183;19536649;19553677;19584259;19609323;19690177;19714462;19748364;19763819;19763884;19863560;19913121;19921424;20003494;20091115;20122277;20180015;20213081;20301425;20301575;20301753;20332121;20412113;20518497;20582465;20589654;20628086;20722467;20852946;20871615;20871616;20872766;20927582;21113654;21153565;21165770;21182766;21184274;21254220;21285249;21356067;21365267;21409391;21415078;21614589;21618343;21637299;21932393;21989927;22052327;22193777;22194698;22241545;22310028;22331464;22505525;22692731;23038782;23110154;23302520;23341105;23453885;23471749;23561644;23585894;23657012;23758548;23787919;23824750;23846919;23935836;24085845;24136930;24153426;24285729;24415441;24485656;24591564;24870022;25099575 79728 H3BN63;I3L1Z5;I3L2S5;I3L3R6;Q86YC2 ABBA01017067;ABBA01017068;ABBA01017069;ABBA01017070;ABBA01017071;ABBA01017072;AC008870;AK025469;AK097533;AK299152;AL834425;AMYH02031703;BC044254;BE670820;BX647125;BX647130;CH471145;CR749637;DA192828;GM006654;KC877588;NG_007406;NM_024675 AAH44254;ACE86531;ACE87210;BAB15140;BAC05090;BAG61201;CAD39086;CAH18431;CAS97368;EAW55811;EAW55812;EAW55813;NP_078951;Q86YC2 Hs.444664 1658595;1683713;2180791 RH65008;RH67994;RH68430 DKFZp667I166;DKFZp686E1054;FANCN;FLJ21816;PNCA3 APPROVED protein-coding ENSG00000083093 HGNC:26144 07966 114480;610355;610832;613348 REVIEWED 731329 PANK4 pantothenate kinase 4 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008] 1 1 1 p36.32 127937 146325 + 2439975 2458061 - 2508536 2526622 - 731233;1580863;6480464;6907045;8554872 11479594 12477932;14702039;15489334;16038259;16132722;16169070;16710414;18029348;18508765;21139048;21890473;21906983;21963094;22863883;22939629;23251661;24797263;2981478;8125298 55229 D6RJF3;E9PHT6;H0Y9E4;H0YA02;H0YA26;H0YA31;Q9NVE7 ABBA01016098;ABBA01016099;AK001644;AK223546;AK295301;AK303127;AK309860;AL139246;AL442072;AMYH02000124;BC043496;BK000012;BK000013;CH471183;CR749728;NM_018216;XR_241034;XR_430631 AAH43496;BAA91805;BAD97266;BAG58281;BAG64233;CAC09438;CAH18490;DAA00006;DAA00007;EAW56097;EAW56098;EAW56099;NP_060686;Q9NVE7 Hs.26156 2162437;2219448 PANK4__5823;SHGC-74070 DKFZp547M242;FLJ10782;hPanK4 OTTHUMP00000000865;OTTHUMP00000220861;OTTHUMP00000220862;pantothenic acid kinase 4 APPROVED protein-coding ENSG00000157881 HGNC:19366 07313 606162 REVIEWED 1347653 PANX1 pannexin 1 The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008] 11 11 11 q21 91149894 91202958 + 93862094 93918762 + 94128928 94185596 + 1580863;6480464 12477932;12975309;14597722;15028292;15489334;16303743;16682648;16690868;16908669;17036048;17240370;17715132;17925379;18029348;18596211;19056988;19150332;19213873;19946888;20086016;20516070;20622111;20628624;20660288;20884646;20944749;21139048;21606493;21659516;21791690;21859844;21865551;21906983;21963094;22311122;22311983;22753409;22947051;22972801;23033481;23456773;23549611;23594276;23700432;23798685;23918924;23936165;24146091;24531690;24646995;25008946 24145 Q96RD7 ABBA01040034;AF398508;AF398509;AK074897;AK313074;AMYH02025372;AMYH02025373;AP002784;AP003966;AY048509;AY359023;BC016931;CA418094;CH471065;CQ782865;FM201789;NG_027936;NM_015368;XM_005273863 AAH16931;AAK91713;AAK91714;AAL06604;AAQ89382;BAC11276;CAF86093;CAR31475;EAW66924;EAW66925;EAW66926;NP_056183;Q96RD7;XP_005273920 Hs.591976 1766053;1857232 SHGC-149437;WIAF-1483 MGC21309;MRS1;PX1;UNQ2529 OTTHUMP00000236764;OTTHUMP00000236765;innexin;pannexin-1 APPROVED protein-coding ENSG00000110218 HGNC:8599 10526 608420 REVIEWED 1351582 PANX3 pannexin 3 The protein encoded by this gene belongs to the innexin family. Innexin family members are known to be the structural components of gap junctions. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121641631 121650429 + 124481453 124490252 + 124611557 124620356 + 1580863;6480464;8554872 14597722;15028292;16147992;17925379;20086016;20404334;22947051;25008946 116337 Q96QZ0 AA456140;ABBA01031255;AF406650;AMYH02025721;AMYH02025722;AP001524;CH471065;NM_052959 AAI52945;AAK95655;EAW67588;NP_443191;Q96QZ0 Hs.99235 1684758 RH99055 PX3 OTTHUMP00000231522;gap junction protein pannexin 3;pannexin-3 APPROVED protein-coding ENSG00000154143 HGNC:20573 16334 608422 REVIEWED 1349764 PANX2 pannexin 2 The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 22 22 22 q13.33 34484072 34493636 + 50609160 50618724 + 50170731 50180295 + 1580863;6480464;8554872 10591208;12477932;14597722;14702039;15028292;15461802;16344560;16989724;17427027;17474147;19749789;19851296;20198315;20516070;24146091;25008946;8889548 56666 B3KTT7;F8W8Y4;Q495U3;Q96RD6 ABBA01011372;AF398510;AF398511;AK096019;AK123508;AK299910;AL022328;AMYH02038598;BC101023;BQ576292;BU732466;BU734128;CA432022;CH471138;CR456467;DA116770;DA127683;NM_001160300;NM_052839;NR_027691 AAI01024;AAK91715;AAK91716;BAG53199;BAH13170;CAG30353;CAK54448;CAK54747;EAW73494;EAW73495;EAW73496;NP_001153772;NP_443071;Q96RD6 Hs.440092 MGC119432;PX2;hPANX2 OTTHUMP00000028557;OTTHUMP00000196720;pannexin-2 APPROVED protein-coding ENSG00000073150 HGNC:8600 09760 608421 REVIEWED 1603048 PAM16 presequence translocase-associated motor 16 homolog (S. cerevisiae) INVOLVED IN cellular protein metabolic process (inferred); protein import into mitochondrial matrix (inferred); protein targeting to mitochondrion (inferred); FOUND IN mitochondrial inner membrane presequence translocase complex (inferred); INTERACTS WITH atrazine; tunicamycin; 4,4'-diaminodiphenylmethane (ortholog) 16 16 16 p13.3 4597200 4610208 - 4390252 4401373 - 4340251 4351372 - 6480464 10810093;11750097;12477932;14702039;15489334;15704001;16169070;17207965;20053669;20719856;20877624;21890473;21900206;22939629;24250222;24816145 51025 I3L0X9;I3L1K9;I3L1U7;I3L3G8;I3L3T0;Q9Y3D7 ABBA01026770;AC004789;AC012676;AF151894;AF349455;AK026514;AMYH02031323;BC005024;BG715429;CH471112;CR457362;CS072359;KF456150;NM_016069 AAD34131;AAH05024;AAL57767;ADQ32402;BAB15494;CAG33643;CAI93497;EAW85313;EAW85315;NP_057153;Q9Y3D7 Hs.730693 1700658;2150834;2184210 RH103952;SHGC-57722;WI-11319 CGI-136;TIMM16;Tim16 Magmas;OTTHUMP00000159840;magmas-like protein;mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction;mitochondria-associated granulocyte macrophage CSF-signaling molecule;mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction;mitochondrial import inner membrane translocase subunit Tim16;presequence translocated-associated motor subunit PAM16 APPROVED protein-coding ENSG00000217930 HGNC:29679 14798 614336 VALIDATED 1313038 PANK2 pantothenate kinase 2 This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008] 20 20 20 p13 3931353 3966375 + 3869486 3904538 + 3887610 3923891 + 731233;1580863;6480464;6907045;7240710;8554872;8699517 11479594 11780052;12058097;12477932;12554685;14639680;14702039;14743358;15105273;15390030;15465096;15659606;15747360;15793782;15843062;15911822;16240131;16272150;16437574;16450344;16962235;17101457;17242360;17353931;17631502;17825826;17903678;18006953;18029348;18074375;18239249;19224615;20006850;20301334;20301663;20551478;20603201;20721927;20877624;20925075;21198414;21442655;21890473;21906983;21963094;22103354;22221393;22692681;22930366;23000965;23116688;23166001;23447832;24348190;24816145;2981478;8944032 80025 Q6P1K9;Q9BZ23;V9GYH1;V9GYZ0 ABBA01053840;ABBA01053841;AF086501;AF494409;AK021791;AK097796;AK310190;AL031670;AL353194;AL519408;AL532307;AL713654;AMYH02036611;BC009421;BC065019;BC093633;BC101569;BC101571;BC107724;BC142976;BF698882;BK000010;CH471133;NG_008131;NM_024960;NM_153638;NM_153640;XM_005260835;XM_005260836;XM_006723631 AAH65019;AAH93633;AAI01570;AAI01572;AAN32907;BAB13897;BAC05173;CAD28463;DAA00004;EAX10476;EAX10478;NP_079236;NP_705902;NP_705904;Q9BZ23;XP_005260892;XP_005260893;XP_006723694 Hs.516859 1648608;1658221;2142449;5015619 D11S3114;RH11899;RH48352;WI-17847 C20orf48;FLJ17232;HARP;HSS;MGC15053;NBIA1;PKAN;hPanK2 Hallervorden-Spatz syndrome;OTTHUMP00000030143;OTTHUMP00000030148;pantothenate kinase 2, mitochondrial;pantothenic acid kinase 2 APPROVED protein-coding ENSG00000125779 HGNC:15894 234200;606157;607236 REVIEWED 1323766 PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 20 20 20 p12 9588063 9889850 - 9518037 9819687 - 9537388 9839039 - 1580863;6480464;6907045;8554872 10521512;10574462;10837486;10880354;11733543;11756552;11780052;11950587;12032833;12477932;12897128;14702039;16014608;16189514;16581795;17353931;17620599;18628988;19060904;19415746;20379614;20564219;20877624;20936779;23106939;23251661;23696025;23836671;23877225;9381178 57144 B0AZM9;Q9P286 AB033090;AB040812;ABBA01053928;ABBA01053929;ABBA01053930;AK095674;AK291401;AK307926;AK315820;AL031652;AL031682;AL034427;AL133002;AL135935;AL353612;AMYH02036690;AX776013;BC024179;CH471133;KF456813;KF456817;KF456818;KF510483;NM_020341;NM_177990;XM_005260766;XM_006723597 AAH24179;ABM81820;ABM84974;BAA86578;BAA94194;BAF84090;BAF98711;BAG53104;CAB61350;CAE11706;EAX10357;EAX10358;EAX10359;EAX10360;NP_065074;NP_817127;Q9P286;XP_005260823;XP_006723660 Hs.32539 1655346;1669994;1670711;1689730;1693432;1716085;1720443;1734180;1747635;1796450;1856773;2121463;2173189;5094765 AL034531;ATTC013;D20S503;D20S723;D20S958;G18107;G59174;G65503;PAK7_1448;RH121007;RH12132;RH25698;WI-15350;Z94709 KIAA1264;MGC26232;PAK-5;PAK-7;PAK5 OTTHUMP00000030258;OTTHUMP00000030259;OTTHUMP00000030260;p21(CDKN1A)-activated kinase 7;p21-activated kinase 5;p21-activated kinase 7;p21CDKN1A-activated kinase 7;protein kinase PAK5;serine/threonine-protein kinase PAK 7;serine/threonine-protein kinase PAK7 APPROVED protein-coding ENSG00000101349 HGNC:15916 06423 608038 REVIEWED 1315054 PAPD4 PAP associated domain containing 4 ENCODES a protein that exhibits polynucleotide adenylyltransferase activity; INVOLVED IN histone mRNA catabolic process; RNA polyadenylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); nuclear RNA-directed RNA polymerase complex (inferred); INTERACTS WITH (-)-demecolcine; arsenous acid; benzo[a]pyrene diol epoxide I 5 5 5 q14.1 74808017 74882249 + 78908243 78982471 + 79612420 79686648 + 737633;6480464;8554872 12477932 14702039;15070731;15146197;16344560;18172165;19322201;20144904;21700879;21995630;22727665;23063654;23200856;23382691;23667531 167153 D6RAF2;Q6PIY7 ABBA01062023;ABBA01062024;ABBA01062025;ABBA01062026;AC008482;AK095818;AL833136;AMYH02011650;AMYH02011651;BC026061;BC047581;CH471084;CN348312;DB142133;NM_001114393;NM_001114394;NM_001297744;NM_001297745;NM_173797;XM_005248451;XM_005248452;XM_006714561;XM_006714562;XM_006714563;XR_241778 AAH26061;AAH47581;BAC04629;EAW95837;EAW95838;NP_001107865;NP_001107866;NP_001284673;NP_001284674;NP_776158;Q6PIY7;XP_005248508;XP_005248509;XP_006714624;XP_006714625;XP_006714626 Hs.418198 1643799;1660399;1662259;1670088;1681706;1690566;1733696;1733698;1749777;2135516;2186217;7184862;7184863 D5S2605;D5S544;D5S682;EST475009;G29132;G31507;RH36165;RH80878;RH93422;SHGC-111524;SHGC-56592 FLJ38499;GLD2;TUT2;hGLD-2 OTTHUMP00000135303;OTTHUMP00000222201;OTTHUMP00000222247;PAP-associated domain-containing protein 4;TUTase 2;poly(A) RNA polymerase GLD2;terminal uridylyltransferase 2 protein-coding ENSG00000164329 HGNC:26776 15098 614121 VALIDATED 1604436 PAPL iron/zinc purple acid phosphatase-like protein Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008] 19 19 19 q13.2 36377378 36404537 + 39574945 39602129 + 39084305 39111489 + 12477932;16793224;21490949 390928 Q6ZNF0 ABBA01040719;ABBA01040720;AC011443;AK131245;AMYH02036086;AMYH02036087;BC127841;BC136721;BC136722;BC142613;BC150149;CH471126;NM_001004318 AAI36722;AAI36723;BAD18425;EAW56857;NP_001004318;Q6ZNF0 Hs.448934 1853660 GDB:313755 FLJ16165 purple acid phosphatase long form APPROVED protein-coding ENSG00000183760 13361 610490 VALIDATED 1320571 PAOX polyamine oxidase (exo-N4-amino) ENCODES a protein that exhibits polyamine oxidase activity; receptor binding; INVOLVED IN oxidation-reduction process; polyamine catabolic process; positive regulation of spermidine biosynthetic process; PARTICIPATES IN polyamine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN peroxisomal matrix (inferred); INTERACTS WITH arsenous acid; cyclosporin A; diarsenic trioxide 10 10 10 q26.3 128312520 128324936 - 135192741 135205198 + 133379237 133391696 + 6480464;7244190;7244193;8554872 13678416;15541750 12477380;12477932;12660232;12975309;14702039;15489334;16207710;16354669;20178365;20405312 196743 Q6QHF9 AA280165;ABBA01006216;AF226657;AF312698;AK124186;AK128001;AL360181;AL834535;AMYH02024095;AY358418;AY541513;AY541514;AY541515;AY541516;AY541517;AY541518;AY541519;AY541520;AY541521;AY541522;AY541523;AY541524;BC032778;BE646315;CH471211;NM_152911;NM_207127;NM_207128;NR_109763;NR_109764;NR_109765;NR_109766 AAH32778;AAN40706;AAO63265;AAQ88784;AAS64373;AAS64374;AAS64375;AAS64376;AAS64377;AAS64378;AAS64379;AAS64380;AAS64381;AAS64382;AAS64383;AAS64384;ABM82239;ABM84277;ABM85423;ABM87669;BAG54616;CAD39191;EAW61340;EAW61341;EAW61342;EAW61343;EAW61344;EAW61345;EAW61346;EAW61347;NP_690875;NP_997010;NP_997011;Q6QHF9 Hs.501578 1336277;1722961;2156080;2167523;5015861;5020740;7185938 D10S1328E;D10S16;D10S1711;G06262;G60578;L17809 DKFZp434J245;MGC45464;PAO OTTHUMP00000020806;OTTHUMP00000020807;OTTHUMP00000180554;OTTHUMP00000233406;OTTHUMP00000233408;peroxisomal N(1)-acetyl-spermine/spermidine oxidase;peroxisomal N1-acetyl-spermine/spermidine oxidase;polyamine oxidase protein-coding ENSG00000148832 HGNC:20837 10136 615853 VALIDATED 1318583 PAPOLA poly(A) polymerase alpha The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 14 14 14 q32.31 77024453 77089176 + 96968713 97033453 + 96502376 96567116 + 1580863;6480464;6907045 10429366;10742179;11878934;12226669;12477932;14517258;14702039;14743216;14749727;15169763;15231748;15302935;15489334;16344560;17172643;18029348;19322201;20174964;21139048;21890473;21906983;22412018;22863883;22939629;23000965;7590244;8302877;8491200;9356495 10914 G3V2A0;G3V3I9;G3V457;G3XAH6;H0YJ00;H0YJL4;H0YJZ9;P51003 AA236200;ABBA01048588;ABBA01048589;ABBA01048590;AF002990;AK024849;AK057629;AK097832;AK295020;AK302406;AK302984;AK303402;AK307659;AK307680;AK316168;AL163051;AMYH02029806;BC000927;BC015150;BC036014;BX089817;BX161482;BX248301;BX248753;CD655865;CH471061;DB045100;DB483858;NG_030439;NM_001252006;NM_001252007;NM_001293627;NM_001293628;NM_001293632;NM_032632;X76770;XM_005267280;XM_005267281;XM_005267282 AAH00927;AAH36014;BAG58079;BAG63716;BAG64124;BAG64456;BAH14539;CAD61935;CAD62628;CAD66560;EAW81642;EAW81643;EAW81644;EAW81645;EAW81646;EAW81647;EAW81648;EAW81649;NP_001238935;NP_001238936;NP_001280556;NP_001280557;NP_001280561;NP_116021;P51003;XP_005267337;XP_005267338;XP_005267339 Hs.253726 1671880;1672026;1679287;1699594;1736470;1754335;1850410;2114594;2119693;2158844;2164479;5016781;5022200;5022578 A006O03;D14S720E;D1S1423;G35681;G35762;L18426;RH103398;RH68050;RH68570;SHGC-132361;SHGC-23980;SHGC-67307;WI-13790;WI-15985 MGC5378;PAP OTTHUMP00000246021;OTTHUMP00000246068;OTTHUMP00000246069;PAP-alpha;polynucleotide adenylyltransferase alpha APPROVED protein-coding ENSG00000090060 HGNC:14981 10407 605553 REVIEWED 1322134 PAPOLB poly(A) polymerase beta (testis specific) ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); RNA binding (inferred); PARTICIPATES IN mRNA decay pathway; FOUND IN endoplasmic reticulum (inferred); INTERACTS WITH copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 p22.1 4856457 4860713 - 4897369 4901625 - 4857738 4861994 - 1580863;6480464;6907045 11150526;11459229;12477932;15489334;21906983;8491200 56903 A4D1Z6;Q9NRJ5 ABBA01039432;AC092610;AF218840;AK312788;AMYH02015122;BC036653;CH236953;HC007204;HC044681;NM_020144 AAF81013;AAH36653;AAS07561;ABM82152;ABM85337;CBH19407;CBH30670;EAL23967;NP_064529;Q9NRJ5 Hs.487409 2106567 PAPOLB_3611 PAPT;TPAP OTTHUMP00000200478;PAP-beta;poly(A) polymerase beta;polynucleotide adenylyltransferase beta;testis-specific poly(A) polymerase protein-coding ENSG00000218823 HGNC:15970 08467 607436 VALIDATED 1320003 PAPD5 PAP associated domain containing 5 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN histone mRNA catabolic process; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; cyclosporin A 16 16 16 q12.1 34701222 34783612 + 50186829 50269221 + 50152918 50235310 + 1580863;6480464 10066793;12477932;14702039;18172165;19322201;20379614;21788334;21878619;25049417;8125298 64282 E9PC61;H3BQM0;Q8NDF8 ABBA01000878;ABBA01000879;AC007597;AC007610;AF089897;AK001141;AK097589;AK098806;AK223410;AK299294;AK300918;AL833922;AMYH02032009;AMYH02032010;AMYH02032011;BC035270;BC089405;BC143706;CH471092;DN994465;FR872509;NM_001040284;NM_001040285;XM_005256092;XM_005256093;XM_006721245 AAD45199;AAH89405;AAI43707;AAI56330;AAI57080;BAA91518;BAD97130;BAG61309;BAG62550;CAD38778;CCB84642;EAW82747;EAW82748;EAW82749;EAW82750;NP_001035374;NP_001035375;Q8NDF8;XP_005256149;XP_005256150;XP_006721308 Hs.514342 1677360;2160457;5093610 A009S35;G32820;RH65016 FLJ40270;TRF4-2 PAP-associated domain-containing protein 5;TUTase 3;non-canonical poly(A) RNA polymerase PAPD5;terminal uridylyltransferase 3;topoisomerase-related function protein 4-2 protein-coding ENSG00000121274 HGNC:30758 16119 605540 VALIDATED 8694620 PAPPA-AS2 PAPPA antisense RNA 2 q33.1 14702039;19531736 103611155 AK092105 AGU1 ncrna HGNC:35160 1316507 PAPD7 PAP associated domain containing 7 The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010] 5 5 5 p15 6740937 6785032 + 6714076 6757161 + 6713963 6764739 + 6480464 10066793;10926539;11459963;12477932;15489334;18330920;18421076;18821564;19240061;19322201;19734545;21878619;22359512;23376078;23548203;23776197;24250222 11044 B4E0T3;B7ZLL4;D6RJD0;Q5XG87 AB005754;ABBA01016151;AC122710;AF089896;AI871781;AK289857;AK303516;AK308405;AMYH02010809;AY623114;BC084567;BC117137;BC126106;BC143882;CH471102;KC424495;NM_001171805;NM_001171806;NM_006999;R49553;XM_005248234;XM_005248236;XM_006714438 AAD45198;AAH84567;AAI17138;AAI26107;AAI43883;AAT38110;ADR83059;AGE92663;BAA24434;BAF82546;BAG64545;EAX08101;NP_001165276;NP_001165277;NP_008930;Q5XG87;XP_005248291;XP_005248293;XP_006714501 Hs.481542 2130336;2136981;2155764;2163558;2167209;2172919;2174426;2217796 Cda0id11;D5S2465;L31436;POLS_3540;RH44956;STS-AA017033;STS-T87300;WI-22019 LAK-1;LAK1;POLK;POLS;TRF4;TRF4-1;TRF41;TUTASE5 DNA polymerase kappa;DNA polymerase sigma;OTTHUMP00000115520;PAP-associated domain-containing protein 7;TRAMP-like complex polyadenylate polymerase;TUTase 5;non-canonical poly(A) RNA polymerase PAPD7;polymerase (DNA directed) sigma;polymerase (DNA-directed) sigma;terminal uridylyltransferase 5;topoisomerase-related function protein 4-1 APPROVED protein-coding ENSG00000112941 HGNC:16705 09239 605198 REVIEWED 1317646 PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008] 4 4 4 q24 105829640 105936231 - 108534822 108641419 - 107613666 107720263 - 1580863;6480464;6907045;8554872 10657990;10679223;11931637;12477932;12716056;14747722;15065880;15489334;15755455;16169070;16344560;17540769;19008949;19337310;20332099;20335228;20360068;21139048;21890473;21906983;22242175;22380844;22505724;22863883;23000965;24250222;24478790;24816145;25027693;9576487;9648242;9668121;9671738;9771708;9915785 9061 O43252;Q6IAX6 ABBA01063753;ABBA01063754;AC004045;AC098586;AC106861;AF016496;AF033026;AF097710;AF097711;AF097712;AF097713;AF097714;AF097715;AF097716;AF097717;AF097718;AF097719;AF097720;AF097721;AF105227;AK292774;AK297981;AMYH02009878;AMYH02009879;AU132232;BC011392;BC032513;BC040940;BC050627;BQ437924;BU517185;CH471057;CR457028;NM_005443;U53447;Y10387 AAC28429;AAC39894;AAD09325;AAF40235;AAF40236;AAH11392;AAH32513;AAH50627;AAY40925;AAY41043;ABM81969;ABM85148;BAF85463;BAH12699;CAA71413;CAG33309;EAX06210;NP_005434;O43252 Hs.368610 1643931;1651267;1658125;1704816;1721171;2134545;2136732;2156431;2185349;5019869 D4S3101;G54601;G59422;SGC44586;SHGC-10924;SHGC-18786;SHGC-52884;SHGC-58007;SHGC-67932;SHGC-79878 ATPSK1;PAPSS;PAPSS 1;SK 1;SK1 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 1;OTTHUMP00000161864;PAPS synthase 1;bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1;sulfurylase kinase 1 APPROVED protein-coding ENSG00000138801 HGNC:8603 09132 603262 VALIDATED 1315952 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q24 83166000 83253966 + 89419476 89507462 + 87659719 87747705 + 1580863;6480464;6907045;7240710;8554872;8699517 10559207;10657990;10679223;11159808;11558903;11773860;11931637;11931653;12477932;15489334;16385451;17353931;18781797;19727025;20360068;20379614;21139048;21832049;21890473;21906983;21963094;22242175;22394585;22791835;22863883;23000965;23824674;23862649;9671738;9714015;9771708 9060 O95340;Q5TB52 ABBA01021962;ABBA01021963;ABBA01021964;AF074331;AF091242;AF150754;AF160503;AF160504;AF160505;AF160506;AF160507;AF160508;AF160509;AF173365;AF313907;AK301453;AK309262;AK312556;AL133327;AL138767;AMYH02023500;BC009894;BQ221395;BQ772647;BQ888954;CB960618;CH471066;NG_012150;NM_001015880;NM_004670 AAC64583;AAD38423;AAF12761;AAF20366;AAF40307;AAH09894;AAK00296;ABM84551;ABM86356;BAG35453;BAG62977;EAW50181;EAW50182;EAW50183;NP_001015880;NP_004661;O95340 Hs.524491 1336487;1337807;1649390;1666208;1709842;1756097;2139122;2139124;2181708;7185400 A006H32;D10S215;D10S579;G20816;RH15684;SHGC-142887;SHGC-84743;STS-W46759;WI-18019 ATPSK2;BCYM4;PAPSS 2;SK 2;SK2 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2;ATP sulfurylase/APS kinase 2;ATP sulfurylase/adenosine 5'-phosphosulfate kinase;OTTHUMP00000020028;PAPS synthase 2;PAPS synthetase 2;bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2;bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthethase 2 APPROVED protein-coding ENSG00000198682 HGNC:8604 04303 603005;612847 REVIEWED 1319922 PAQR4 progestin and adipoQ receptor family member IV ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 16 16 16 p13.3 3224788 3228931 + 3019342 3023485 + 2969245 2973489 + 737633;6480464;8554872 12477932 14702039;15489334;16044242;16344560;20694148;24250222;8889548 124222 I3L1A2;I3L265;Q8N4S7 ABBA01026723;AC004235;AF086057;AK054564;AK092173;AK291373;AK295348;AL832527;AMYH02031280;AY424282;BC033703;BQ935501;BU739514;CH471112;DA268775;DB505162;HD061936;NM_001284511;NM_001284512;NM_001284513;NM_152341;XM_005255112 AAH33703;AAR08370;ACE86661;ACE87344;BAB70758;BAC03821;BAF84062;BAG58316;CBS99530;EAW85441;EAW85442;EAW85443;EAW85444;NP_001271440;NP_001271441;NP_001271442;NP_689554;Q8N4S7;XP_005255169 Hs.351474 FLJ30002 OTTHUMP00000159228;progestin and adipoQ receptor family member 4 protein-coding ENSG00000162073 HGNC:26386 08697 614578 VALIDATED 1321322 PAQR3 progestin and adipoQ receptor family member III INVOLVED IN negative regulation of MAP kinase activity; negative regulation of neuron projection development; negative regulation of peptidyl-serine phosphorylation; FOUND IN Golgi apparatus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 5-aza-2'-deoxycytidine 4 4 4 q21.21 77134736 77156218 - 79836364 79860582 - 78887278 78939428 - 737633;6480464 12477932 14702039;15489334;16044242;16344560;17207965;17724343;18515281;18547165;19519172;19884349;21906983;22828136 152559 D6RDU4;F8W784;Q6TCH7 ABBA01063389;AC093841;AC098818;AK055774;AK126273;AK291232;AL080110;AMYH02009545;AX775925;AY424281;BC029604;BC031256;BC047510;BX648346;CH471057;CQ859770;DA410845;HD061934;NM_001040202;XM_005262769;XM_005262770;XM_006714104;XM_006714105;XM_006714106;XM_006714107 AAH31256;AAH47510;AAR08369;ADQ31950;BAF83921;BAG51571;BAG54300;CAE11662;CAH25935;CBS99529;EAX05836;EAX05837;EAX05838;EAX05839;NP_001035292;Q6TCH7;XP_005262826;XP_005262827;XP_006714167;XP_006714168;XP_006714169;XP_006714170 Hs.657312 1670670;2120849 SHGC-24780;SHGC-67756 RKTG OTTHUMP00000219587;OTTHUMP00000219588;OTTHUMP00000219591;Raf kinase trapping to Golgi;progestin and adipoQ receptor family member 3 protein-coding ENSG00000163291 HGNC:30130 17819 614577 VALIDATED 7246702 PAPPA-AS1 PAPPA antisense RNA 1 FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH paracetamol 9 9 9 q33.2 89806476 89812291 - 119160436 119162885 - 116398157 116400606 - 6480464 15450385;15656990 493913 Q5QFB9 ABBA01042646;AL137024;AMYH02021535;AY623011;AY623012;NR_103711 AAV41519;AAV41520;Q5QFB9 Hs.728832 1698998;1774517;1778893;2146336;2187053;2187055 A006G27;G20791;RH103070;RH12228;RH36503;WI-18717 NCRNA00156;TAF2C2;TAF4B;TAFII105 DIPAS;PAPPA-AS;PAPPAAS;PAPPAS ncrna ENSG00000256040 HGNC:35152 610689 PREDICTED 1606550 PAQR5 progestin and adipoQ receptor family member V ENCODES a protein that exhibits steroid binding (inferred); INVOLVED IN multicellular organismal development (inferred); oogenesis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; aflatoxin B1; atrazine 15 15 15 q23 46480046 46588765 + 69591294 69699976 + 69298955 69407637 + 6480464 12477932;12574519;12601167;16044242;18603275;20889312;21761364 54852 H0YL06;Q9NXK6 ABBA01038768;ABBA01038769;AC026992;AC027237;AK000197;AMYH02030697;AW779994;AY424283;BC039234;BE747523;CH471082;HD061938;NM_001104554;NM_017705;XM_005254494;XM_005254495;XM_005254496;XM_006720583;XM_006720584 AAH39234;AAR08371;ABM86765;ABW03821;BAA91004;CBS99532;EAW77838;EAW77839;NP_001098024;NP_060175;Q9NXK6;XP_005254551;XP_005254552;XP_005254553;XP_006720646;XP_006720647 Hs.591096 1697300;1722267;1732573;2165373;5016596;5022383;5022578 D15S525;D1S1423;ECD04345;G60044;GDB:631802;RH102147;RH46326 FLJ20190;MPRG OTTHUMP00000164447;mPR gamma;membrane progestin receptor gamma;progestin and adipoQ receptor family member 5 protein-coding ENSG00000137819 HGNC:29645 08475 607781 VALIDATED 1321183 PAPOLG poly(A) polymerase gamma This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008] 2 2 2 p16.1 60826967 60872820 + 60983365 61029221 + 60756230 60802086 + 1580863;6480464;6907045;8554872 11287430;11431479;11463842;12477932;14702039;15302935;15489334;16344560;19946888;20211142;20513922;21822216;22412388;22939629;24076191;24816145;8491200 64895 F8WAT4;H7C3W0;Q9BWT3 AB209304;ABBA01075337;AC011245;AC012498;AF312211;AI419423;AJ308101;AK021867;AK023034;AK023544;AK024249;AK314663;AMYH02003913;AMYH02003914;AW515951;AY029162;BC016738;BC028593;BC068493;BC110906;BC111701;BC113747;BX647824;CH471053;DB082179;NM_022894;XM_005264500;XM_005264501 AAH16738;AAI10907;AAI11702;AAI13748;AAK31791;AAK83701;AAY14677;AAY14832;BAB13919;BAB14368;BAB14604;BAB14858;BAD92541;BAG37221;CAC59751;EAX00029;EAX00030;EAX00031;EAX00032;EAX00033;EAX00034;NP_075045;Q9BWT3;XP_005264557;XP_005264558 Hs.387471 1728661;1790675;2119094;2120464;5016478;5022578;5022641;5109281 BARC0040;D11S2843;D1S1423;D1S1425;G63622;GDB:434012;RH45088;RH70022 FLJ11805;FLJ12972;FLJ13482;FLJ14187;MGC133307;MGC133308 OTTHUMP00000159787;PAP-gamma;SRP RNA 3' adenylating enzyme/pap2;SRP RNA 3'-adenylating enzyme;neo-PAP;neo-poly(A) polymerase;nuclear poly(A) polymerase gamma;polynucleotide adenylyltransferase gamma APPROVED protein-coding ENSG00000115421 HGNC:14982 11420 REVIEWED 1606437 PAQR7 progestin and adipoQ receptor family member VII INVOLVED IN multicellular organismal development (inferred); oogenesis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; mifepristone; PhIP 1 1 1 p36.11 24584058 24593828 - 26187975 26202461 - 25861484 25875970 - 6480464 12477932;12574519;12601167;12606724;15489334;16044242;17082257;17207965;18603275;19071147;19322201;21761364;21890473;21906983;22505724 164091 Q86WK9 AA778580;ABBA01034887;AF313620;AL033528;AMYH02000547;AMYH02000548;AY424285;BC034015;BC042298;BC127800;CA434186;CH471059;NM_178422;XM_005245745;XM_005245746;XM_006710396 AAH34015;AAI27801;AAO47233;AAR08373;ADQ31948;EAX07862;NP_848509;Q86WK9;XP_005245802;XP_005245803;XP_006710459 Hs.523652 5015961;5020948;5037552;5109281 D15S1477;D1S1425;D8S2279;G35510 MPRA;PGLP;mSR 2310021M12Rik;OTTHUMP00000008505;mPR alpha;membrane progestin receptor alpha;progestin and adipoQ receptor family member 7 protein-coding ENSG00000182749 HGNC:23146 09692 607779 VALIDATED 1323309 PAQR8 progestin and adipoQ receptor family member VIII INVOLVED IN multicellular organismal development (inferred); oogenesis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-fluorouracil; all-trans-retinoic acid; arsenite(3-) 6 6 6 p12.1 53888043 53933700 + 52226926 52272575 + 52362128 52407777 + 6480464 11676489;12107412;12477932;12574519;12601167;12606724;14574404;14702039;15146197;15489334;16044242;17207965;18603275;21761364;24250222 85315 B3KXW6;D6RCM7;Q8TEZ7 ABBA01050555;ABBA01050556;ABBA01050557;AF313619;AF347029;AI655504;AI656485;AJ420470;AK057083;AK093603;AK128085;AK315088;AL136125;AL138722;AMYH02013732;AMYH02013733;AY424286;BC030664;CD672455;CH471081;CN283490;CN395844;HD061944;NM_133367 AAH30664;AAL79777;AAO47232;AAR08374;ADQ32286;BAG37553;BAG54628;CBS99536;EAX04368;EAX04369;NP_588608;Q8TEZ7 Hs.239388 1772661;1785900;2114230;2114232;2126283;2128516 A001Z23;G19819;SHGC-141786;STS-Z41287;WI-20795;WIAF-2212 C6orf33;FLJ32521;FLJ46206;LMPB1;MPRB OTTHUMP00000016604;OTTHUMP00000217782;OTTHUMP00000217783;chromosome 6 open reading frame 33;lysosomal membrane protein in brain 1;lysosomal membrane protein in brain-1;mPR beta;membrane progestin receptor beta;progestin and adipoQ receptor family member 8 protein-coding ENSG00000170915 HGNC:15708 07415 607780 VALIDATED 8693967 PAQR9-AS1 PAQR9 antisense RNA 1 3 3 q23 142681855 142683954 + 142963079 142998494 + 101927832 ABBA01059018;ABBA01059019;AC021074;AC026304;AMYH02007824;AMYH02007825;AMYH02007826;DB456045;HG496123;HG496124;HG496125;HG496126;HG496128;HG496132;NR_125393;XR_241585;XR_241586;XR_249527;XR_251466;XR_251467;XR_425674;XR_425675;XR_425676;XR_425677;XR_427419;XR_427420;XR_427421;XR_431640;XR_431641;XR_431642 Hs.710007 ncrna ENSG00000241570 HGNC:50861 VALIDATED 1312133 PAPPA2 pappalysin 2 This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 1 1 1 q23-q25 149542925 149922011 + 176432307 176814737 + 176463171 176845601 + 1580863;6480464;8554872 11018262;11264294;11597188;12466191;12477932;14702039;15231748;16710414;18374411;18805800;18818296;19474058;19834535;20103653;20304771;20379614;20881960;21496272;22037112;23484525;23509962;23804707;24315451;9883900 60676 Q59FU0;Q9BXP8 AB209369;ABBA01027860;ABBA01027861;ABBA01027862;ABBA01027863;AF311940;AF342989;AF342990;AJ278348;AK096718;AL031290;AL031734;AL139282;AL596254;AMYH02002197;AMYH02002198;AMYH02002199;AMYH02002200;AX428040;BC062665;BC104644;BC117193;BC117195;BC152552;CH471067;JA461825;NG_023390;NM_020318;NM_021936;XM_005245422 AAI17194;AAI17196;AAI56075;AAI57040;AAK31073;AAL17779;AAL17780;BAD92606;CAC11134;CAD35982;CCD35052;EAW91003;EAW91004;NP_064714;NP_068755;Q9BXP8;XP_005245479 Hs.187284 1337979;1340984;1644843;1654080;1658139;1668630;1669988;1670784;1696770;1698168;1708664;1709798;1709830;1709836;1725275;1751353;1770577;1774465;1777836;1854035;1854037;1854039;1854041;2108375;2128599;2134294;2152606;2161915;2163882;2167201;5120944;7187086 A005P32;A005V17;A008K20;AFMa082xe9;AL009861;D1S2605;D1S2659;D1S2769;G20401;G20532;PLAC3_8080;RH102619;RH118921;RH12244;RH12616;RH69675;RH78138;SHGC-105204;SHGC-34079;SHGC-37668;SHGC-75955;SHGC-75961;SHGC-75963;SHGC-75964;SHGC-75965;SHGC-77961;SHGC-81473;SHGC-84715;SHGC-84735;SHGC-84740;WI-11981 PAPP-A2;PAPP-E;PLAC3 OTTHUMP00000032951;OTTHUMP00000032980;PAPPE;pappalysin-2;placenta-specific 3;pregnancy-associated plasma preproprotein-A2;pregnancy-associated plasma protein A2;pregnancy-associated plasma protein E1;pregnancy-associated plasma protein-E APPROVED protein-coding ENSG00000116183 HGNC:14615 10156 REVIEWED 1323015 PAQR9 progestin and adipoQ receptor family member IX FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; cyclosporin A 3 3 3 q23 141103546 141105651 - 142680073 142682818 - 142961231 142963336 - 6480464 12477932;14702039;15489334;16044242;18603275;22359512;23161870 344838 H7C4R3;H7C5S8;Q6ZVX9 ABBA01059019;AC021074;AK093381;AK123932;AMYH02007824;AY424287;BC030124;BC118666;BC122527;CH471052;HD061946;NM_198504 AAI18667;AAI22528;AAR08375;BAC85729;CBS99538;EAW78959;NP_940906;Q6ZVX9 Hs.408385;Hs.656111 1646112;2114154;2219454;5492857 PAQR9__5826;RH70276;SHGC-36471;UniSTS:483032 FLJ41938 OTTHUMP00000214801;progestin and adipoQ receptor family member 9 protein-coding ENSG00000188582 HGNC:30131 17821 614580 VALIDATED 7205337 PARD3-AS1 PARD3 antisense RNA 1 10 10 10 p11.21 34870027 34870682 + 35104695 35105350 + 34815768 34816422 + 100505601 ABBA01033353;AL450337;AMYH02022606;BF511037;BX089194;NR_108043 Hs.549790 ncrna ENSG00000226386 HGNC:44964 VALIDATED 1322495 PAPLN papilin, proteoglycan-like sulfated glycoprotein ENCODES a protein that exhibits metalloendopeptidase activity (inferred); serine-type endopeptidase inhibitor activity (inferred); zinc ion binding (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN basement membrane (inferred); proteinaceous extracellular matrix (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; cisplatin 14 14 14 q24.2 53767437 53804568 + 73704205 73741348 + 73237497 73274640 + 1580863;6480464;8554872 11076767;12477932;12975309;14702039;16344560;19724244;19734141;20379614 89932 B3KXI1;B5MDP7;G3V5P6;H0YJA1;H0YMM2;O95428 ABBA01030764;AC004846;AF109907;AK021713;AK125658;AK127354;AK131073;AK293773;AK294560;AL110280;AMYH02029486;AY358330;BC042057;BC136623;BC144315;BX470414;BX537757;CH471061;DA121177;DB088927;NM_173462;XM_005268184;XM_005268185;XR_429333 AAC97963;AAH42057;AAI36624;AAQ88696;BAC85123;BAC86235;BAG54493;BAG57189;BAG57757;CAD97826;CAH56406;EAW81098;EAW81099;NP_775733;O95428;XP_005268241;XP_005268242 Hs.509909 1644932;1754553;1774361;1775630;2127138;2137547;2155619;2155783;2169917;5015879;5020414;5022322;5022588;5037552 D11S2560;D5S1597E;D8S2279;G38137;G38155;G38168;G38194;G38214;G38230;G38320;GDB:314949;L17688;SHGC-132836;SHGC-53164 DKFZp434F053;MGC50452 OTTHUMP00000245920;OTTHUMP00000245921;OTTHUMP00000245922;OTTHUMP00000245923;OTTHUMP00000245924;papilin protein-coding ENSG00000100767 HGNC:19262 15099 VALIDATED 1317112 PAPPA pregnancy-associated plasma protein A, pappalysin 1 This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 89563743 89812291 + 118916071 119164600 + 116153792 116402321 + 1580863;1642328;1642330;1642331;1642324;1642325;1642326;1642327;1642329;2313776;2313777;6480464;8699517;8554872 12224070;12524241;14661010;15531533;16055491;16614002;17510462;17700210;17728480;9512318 10077652;10491647;10913121;11134163;11522292;11822024;11897673;11914564;12087395;12213189;12241545;12370176;12414897;12421832;12477932;12626203;12687209;12744930;12817760;12970325;14530192;14657012;14702039;14705967;14988014;15146551;15231748;15262980;15305104;15450385;15489334;15647258;15656990;15754336;15919757;16086443;16115888;16344560;16388849;16522924;16959807;16963045;17145752;17177834;1721035;17223728;17237617;17314100;17437322;17509577;17516846;17565927;17714879;17936662;18029348;18089325;18267116;18279673;18295168;18377765;18391950;18434323;18552658;18789800;18805800;18855223;18925584;19003798;19106261;19173346;19246276;19304869;19318028;19322201;19328196;19365167;19646567;19781342;19842139;19842999;19862778;20087924;20148724;20379614;20388505;20472761;20509148;20515576;20583170;20716560;20734665;20865665;20881960;21093861;21111564;21290395;21324404;21360554;21360961;21427871;21557695;21631965;21717483;21753069;21779191;21781597;21986593;22015022;22123284;22148978;22365285;22367671;22377654;22395770;22630333;22644835;22709655;22783577;22836155;22940118;22954283;23010598;23122949;23152806;23169786;23461814;23569011;23642968;23654313;23756051;23821525;23880622;23881937;23891063;23891271;24060054;24069146;24099568;24107527;24171308;24188108;24201068;2422961;2427179;24312907;2438405;24931331;25016703;6084247;6172371;6203109;6207082;7508748;7512304;7526035;7539791;7586586;7679961;7685339;8620868;9751498 5069 Q13219;Q7Z613;Q86YM8;Q8IWT8 ABBA01042646;ABBA01042647;ABBA01042648;AF085834;AF085855;AJ420429;AJ420467;AK024330;AK092441;AK094182;AK129714;AK300128;AK300129;AK308154;AL137024;AL353141;AL691426;AMYH02021531;AMYH02021532;AMYH02021533;AMYH02021534;AMYH02021535;AU139179;AY140907;AY189937;AY302185;AY623010;AY623013;BC062657;BC078657;BG572566;BG622932;BG623020;BU158714;BX640901;CB960120;CB988079;CB989873;CH471090;HC007206;NM_002581;R75872;W04151;X68280;XM_006717129 AAH78657;AAN25598;AAO25648;AAP68818;AAV41518;AAV41521;BAG61919;BAG61920;CAA48341;CBH19408;EAW87439;EAW87440;EAW87441;EAW87442;NP_002572;Q13219;XP_006717192 Hs.643599 1336114;1644265;1649443;1654533;1655373;1660256;1674059;1693536;1698998;1700786;1721345;1722595;1754623;1767693;1768395;1768756;1774517;1778893;1847195;1850406;1857973;2114694;2124453;2135674;2135676;2138036;2139402;2146336;2150464;2153824;2154330;2156417;2165081;2183172;2187053;2187055;2191617;7185425 A005U45;A006G27;D6S2261;D9S1100;D9S170;D9S1971;D9S2044;D9S322;G20523;G20791;G30949;G59672;G60379;MARC_28473-28474:1042818764:1;RH103070;RH104018;RH12228;RH16442;RH36186;RH36503;RH65095;RH66018;RH68484;RH69976;RH70032;RH70083;RH77892;SHGC-132969;SHGC-33840;SHGC-58173;SHGC-58448;STS-H01310;STS-N27098;WI-11068;WI-17377;WI-17535;WI-18717 ASBABP2;DIPLA1;IGFBP-4ase;PAPA;PAPP-A;PAPPA1 IGF-dependent IGFBP-4 protease;OTTHUMP00000022806;aspecific BCL2 ARE-binding protein 2;differentially placenta 1 expressed protein;insulin-like growth factor-dependent IGF binding protein-4 protease;insulin-like growth factor-dependent IGF-binding protein 4 protease;pappalysin-1;pregnacy-associated plasma protein A APPROVED protein-coding ENSG00000182752 HGNC:8602 01448 176385 REVIEWED 1317848 PARD6B par-6 family cell polarity regulator beta This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 46052360 46074607 + 49347923 49373333 + 50731544 50753741 + 1580863;5132275;6480464;6907045 16525119 10934474;11162552;11260256;11780052;12234671;12459187;12477932;12545177;12725730;12887891;14676191;15101818;15489334;15677324;17207965;18029348;19056867;19401335;20360068;20631255;20936779;21139048;21300793;21771265;21832049;23000965;23402259;23439680;23718855;24250222 84612 Q9BYG5 AB044555;AB178534;ABBA01052785;AL031680;AMYH02037240;AMYH02037241;AMYH02037242;AMYH02037243;BC060847;CA435324;CH471077;NM_032521 AAH60847;ADQ33003;BAB40756;BAF92013;EAW75615;EAW75616;EAW75617;NP_115910;Q9BYG5 Hs.589848 1671026;1693288;2146989;2218796;5014051;5015404;5015619;5016478;5022200;5024413;5037552 D11S3114;D8S2278;D8S2279;G42347;GDB:434012;L17705;L17877;L18426;PARD6B_3691;RH65940;SHGC-37653 PAR6B OTTHUMP00000031269;PAR-6 beta;par-6 partitioning defective 6 homolog beta;partitioning defective 6 homolog beta APPROVED protein-coding ENSG00000124171 HGNC:16245 18703 608975 REVIEWED 1345737 PARD6A par-6 family cell polarity regulator alpha This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52203341 52205171 + 67694851 67696681 + 67660948 67662778 + 1580863;5132275;6480464;6484113;6907045;8554872 16525119 10873802;10934474;10954424;11257119;11260256;12459187;12477932;12545177;12606577;12629547;12813044;14676191;14718572;14976222;15254234;15345747;15489334;15590654;15744531;15761148;15761153;15782111;15831491;16189514;16678097;16861740;17050699;17057644;17101696;17335965;17350623;17420281;17560945;17586613;17976838;18562307;18922891;19379695;19617897;19667198;20360068;20719959;21170030;21262463;21549621;22339630;22883624;23249950;23251661;23341197;23439680;23469015;23762244;24250222;9482110 50855 Q9NPB6;R4GMM2 AB041642;AB043634;ABBA01025451;AC010530;AF028827;AF252292;AF265565;AJ277095;AMYH02032239;BC015626;CH471092;NM_001037281;NM_016948;XM_005255977;XM_006721193;XM_006721194 AAB84252;AAF71529;AAF75548;AAH15626;ABM84403;ABM87346;BAA96235;BAB16105;CAB85490;EAW83151;NP_001032358;NP_058644;Q9NPB6;XP_005256034;XP_006721256;XP_006721257 Hs.112933 2109625 PARD6A_9653 PAR-6A;PAR6;PAR6C;PAR6alpha;TAX40;TIP-40 OTTHUMP00000174836;PAR-6 alpha;Tax-interacting protein 40;par-6 partitioning defective 6 homolog alpha;par-6 partitioning defective 6 homolog alpha (c.elegans);partitioning defective 6 homolog alpha;partitioning defective-6 homolog alpha;partitioning-defective protein 6;tax interaction protein 40 APPROVED protein-coding ENSG00000102981 HGNC:15943 06316 607484 REVIEWED 6767143 PARD6G-AS1 PARD6G antisense RNA 1 INTERACTS WITH paracetamol; valproic acid 18 18 18 q23 74678439 74708954 + 77905807 77936315 + 80147924 80178432 + 6480464 14702039;16344560;20379614;8889548 100130522 ABBA01013904;ABBA01013905;AC139100;AK056304;AMYH02035070;BM665099;DA492465;DB097435;DR003590;LN608688;LN608689;LN608691;NR_028339;NR_028340 Hs.352602 1739239;1766289;2117450;2128396;2167453 A004B28;D17S1639;RH11667;RH78187;SHGC-149643 APPROVED ncrna ENSG00000267270 HGNC:44109 VALIDATED 7206875 PARGP1 poly (ADP-ribose) glycohydrolase pseudogene 1 10 10 10 q11.23 44651939 44659910 - 46358155 46411640 - 45854835 45972400 - 728407 ABBA01006259;ABBA01006260;ABBA01006261;AC012044;AK293897;AK294819;AK311609;AL450342;AL672187;AMYH02023039;AMYH02023040;AMYH02023041;AMYH02023042;AMYH02023043;AMYH02023044;AMYH02023045;DA800072;NR_029388 BAG57284;BAH11894 Hs.499594;Hs.732225 1689109;1766243;1780476 RH68500;SHGC-149602;stbA746L15SP6 pseudo HGNC:45008 VALIDATED 1312794 PARD6G par-6 family cell polarity regulator gamma INVOLVED IN cell division (inferred); cell junction assembly (inferred); cell-cell junction organization (inferred); PARTICIPATES IN endocytosis pathway; protein kinase C (PKC) signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol (inferred); plasma membrane (inferred); protein complex (inferred); INTERACTS WITH bisphenol A; paracetamol; zinc atom 18 18 18 q23 74687746 74733595 - 77915115 78005397 - 80157232 80247514 - 1580863;5132275;6480464;6907045;8554872 16525119 10934474;11257119;11260256;12459187;12477932;14676191;14702039;15489334;20379614;23000965;23264737;23333304;23439680 84552 K7ELH1;Q9BYG4 AA502508;AB043635;AB044556;AB178535;AB178536;ABBA01013904;ABBA01013905;AC139100;AK128802;AMYH02035070;BC060797;CH471117;KC877687;NM_032510 AAH60797;BAA96236;BAB40757;BAF92014;BAF92015;EAW66649;NP_115899;Q9BYG4 Hs.654920 1672084;1678765;1757357;1765827;1766289;2128396;2156646;2167453;5037552 A004B28;D18S1063;D8S2279;RH11667;RH26096;SHGC-144757;SHGC-149251;SHGC-149643;WI-14684 FLJ45701;PAR-6G;PAR6D;PAR6gamma OTTHUMP00000163844;PAR-6 gamma protein;par-6 partitioning defective 6 homolog gamma;partitioning defective 6 homolog gamma APPROVED protein-coding ENSG00000178184 HGNC:16076 10138 608976 VALIDATED 1347705 PARK10 Parkinson disease 10 ASSOCIATED WITH Parkinson Disease 10 (inferred) 7240710 12402251 170534 1336013 D1S2652 HGNC:17833 606852 731593 PARD3 par-3 family cell polarity regulator This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] 10 10 10 p11.21 34163865 34869585 - 34398488 35104253 - 34109560 34815325 - 1580863;5132275;6480464;6907045;8554872 16525119 10934474;10954424;11149944;11257119;11260256;11447115;11642408;12234671;12459187;12477932;12515806;12650946;12953056;14676191;14702039;14760703;15144186;15254234;15302935;15324660;15489334;15723051;15723052;15778465;15782111;15951569;16341674;16385451;16458856;16505165;16678097;17053785;17057644;17081983;17101696;17235357;17287830;17353931;17609107;17906294;17979178;17989107;18319301;18562307;18636124;18685789;18838552;18984674;19240061;19503097;19592499;19684603;19737411;19812038;19913121;20095854;20096742;20191563;20379614;20628086;20709820;20933426;20959641;21109632;21139048;21170030;21515326;21549621;21621269;21682944;21865402;22398721;22447895;22883624;23000965;23153534;23263278;24136590;24243103;24255178;24816145;24856572;8889549 56288 B1AP52;F5GZI3;Q5VWU8;Q5VWV2;Q8TEW0 AA136967;AB073671;ABBA01033354;ABBA01033355;ABBA01033356;ABBA01033357;ABBA01033358;ABBA01033359;ABBA01033360;ABBA01033361;ABBA01033362;ABBA01033363;AF177228;AF196185;AF196186;AF252293;AF332592;AF332593;AF454057;AF454058;AF454059;AF467002;AF467003;AF467004;AF467005;AF467006;AK000761;AK024668;AK025892;AK027735;AK172827;AL138768;AL160409;AL360233;AL390766;AL392123;AL450337;AL590039;AL603963;AMYH02022602;AMYH02022603;AMYH02022604;AMYH02022605;AMYH02022606;AW242451;BC011711;BC071566;BE464617;BM796605;CH471072;NM_001184785;NM_001184786;NM_001184787;NM_001184788;NM_001184789;NM_001184790;NM_001184791;NM_001184792;NM_001184793;NM_001184794;NM_019619;XM_005252528;XM_005252530;XM_005252531;XM_005252532;XM_005252534;XM_005252535;XM_005252536;XM_006717471;XM_006717472;XM_006717473;XM_006717474;XM_006717475;XM_006717476;XM_006717477;XM_006717478 AAF71530;AAG33676;AAH11711;AAH71566;AAK27891;AAK27892;AAK69192;AAK69193;AAL76042;AAL76043;AAL76044;AAL76045;AAL76046;AAN75697;AAN75698;AAN75699;BAA91366;BAB55330;BAC54037;EAW85932;EAW85933;EAW85934;NP_001171714;NP_001171715;NP_001171716;NP_001171717;NP_001171718;NP_001171719;NP_001171720;NP_001171721;NP_001171722;NP_001171723;NP_062565;Q8TEW0;XP_005252585;XP_005252587;XP_005252588;XP_005252589;XP_005252591;XP_005252592;XP_005252593;XP_006717534;XP_006717535;XP_006717536;XP_006717537;XP_006717538;XP_006717539;XP_006717540;XP_006717541 Hs.131489 1663924;1678725;1683767;1696202;1696408;1712819;1713835;1717039;1723435;1723957;1731006;1731018;1736126;1739125;1747853;1750167;1760693;1772320;1775307;1782130;2127464;2138639;2149992 A008R21;D10S1391E;D10S1521;D10S355;D10S371;G66764;RH118535;RH119633;RH120125;RH120806;RH124082;RH44685;RH45947;RH48447;RH92874;SGC38268;SHGC-112261;SHGC-144230;SHGC-155299;SHGC-56725;SHGC-57645;SHGC-79047;SHGC-83328 ASIP;Baz;FLJ21015;PAR3;PAR3-alpha;PAR3alpha;PARD-3;PARD3A;PPP1R118;SE2-5L16;SE2-5LT1;SE2-5T2 CTCL tumor antigen se2-5;OTTHUMP00000019427;OTTHUMP00000019428;OTTHUMP00000019429;OTTHUMP00000019430;OTTHUMP00000019431;OTTHUMP00000019432;OTTHUMP00000019434;OTTHUMP00000019435;atypical PKC isotype-specific interacting protein;atypical PKC isotype-specific-interacting protein;bazooka;par-3 family cell polarity regulator alpha;par-3 partitioning defective 3 homolog;partitioning defective 3 homolog;three-pdz containing protein similar to c. elegans par3 (partitioning defect) APPROVED protein-coding ENSG00000148498 HGNC:16051 05994 606745 VALIDATED 1323634 PAQR6 progestin and adipoQ receptor family member VI ASSOCIATED WITH Nephrolithiasis, Calcium Oxalate (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenous acid; atrazine; benzo[a]pyrene diol epoxide I 1 1 1 q22 129286189 129290825 - 156213112 156217908 - 156243321 156248488 - 6480464;8554872 12477932;14702039;15342556;15489334;16044242;17213182;18603275;20139978;23161870;23864651;7566098 79957 B4DJ42;K9J969;Q5TCK5;Q5TCK7;Q6TCH4;Q7Z4Q8 AA310453;ABBA01016665;AF455045;AF455046;AF455047;AK026325;AK054682;AK094346;AK095143;AK095197;AK294143;AK295915;AK295916;AK307441;AK316034;AL135927;AL834227;AMYH02001968;AY424284;BC058509;BC071623;BI551776;BI819919;BP208594;BP217276;BP362806;CH471121;DT218672;FJ200490;FJ200491;FJ200492;HD061940;NM_001272104;NM_001272105;NM_001272106;NM_001272107;NM_001272108;NM_001272109;NM_001272110;NM_001272111;NM_001272112;NM_001272113;NM_024897;NM_198406;NR_073610;XM_005245491;XM_005245494;XM_006711542;XM_006711543;XM_006711544;XM_006711545;XM_006711546;XM_006711547;XM_006711548;XM_006711549;XM_006711550;XM_006711551;XM_006711552;XM_006711553;XM_006711554;XR_426796;XR_426797 AAH58509;AAH71623;AAP97701;AAP97702;AAP97703;AAR08372;ACO54887;ACO54888;ACO54889;BAB15446;BAC04493;BAC04497;BAG57469;BAG58703;BAG58704;BAH14405;CAD38905;CBS99534;EAW52975;EAW52976;EAW52977;EAW52978;EAW52979;EAW52980;EAW52981;EAW52982;EAW52983;EAW52984;NP_001259033;NP_001259034;NP_001259035;NP_001259036;NP_001259037;NP_001259038;NP_001259039;NP_001259040;NP_001259041;NP_001259042;NP_079173;NP_940798;Q6TCH4;XP_005245548;XP_005245551;XP_006711605;XP_006711606;XP_006711607;XP_006711608;XP_006711609;XP_006711610;XP_006711611;XP_006711612;XP_006711613;XP_006711614;XP_006711615;XP_006711616;XP_006711617 Hs.235873 1690252;1857036;2113674;2120254;2127136;2190939;2219452 A003B36;AB055289;MARC_11831-11832:1029348479:1;PAQR6__5825;RH12024;RH27735;STS-X04143 FLJ22672 OTTHUMP00000018881;OTTHUMP00000018882;OTTHUMP00000018884;OTTHUMP00000018885;progestin and adipoQ receptor family member 6;progestin and adipoQ receptor family member VI variant 3;progestin and adipoQ receptor family member VI variant 4;progestin and adipoQ receptor family member VI variant 5 protein-coding ENSG00000160781 HGNC:30132 17820 614579 VALIDATED 1347455 PARK11 Parkinson disease (autosomal recessive, early onset) 11 ASSOCIATED WITH PARKINSON DISEASE 11, AUTOSOMAL DOMINANT (inferred) 7240710 12638082 352908 HGNC:17963 607688 1351666 PARG poly (ADP-ribose) glycohydrolase Poly(ADP-ribose) glycohydrolase (PARG) is the major enzyme responsible for the catabolism of poly(ADP-ribose), a reversible covalent-modifier of chromosomal proteins. The protein is found in many tissues and may be subject to proteolysis generating smaller, active products. [provided by RefSeq, Jul 2008] 10 10 10 q11.23 44612906 44656296 - 51026325 51371346 - 49818279 49941985 - 2316738;2316742;6480464 12834903;18057239 10449915;11053413;12477932;12878198;14527731;14622405;15081900;15212953;15302935;15450800;15489334;15868399;16117724;16526943;16963444;17509564;17548475;18029348;18407589;18636124;19076642;19389396;19454480;19571039;19812418;21628590;21890473;22053931;22333589;22433848;22508044;22839996;22918473;23102699;23254695;23467693;23744356;23776710;24211580;24816145;8428996;9115250;9925755 8505 Q86W56 ABBA01009311;ABBA01041065;ABBA01041066;AC069546;AF005043;AF085828;AK295244;AK295786;AK301845;AK302560;AK307788;AL450342;AL672187;AL731572;AMYH02022990;AMYH02022991;AMYH02022992;AMYH02022993;AMYH02022994;AMYH02022995;AMYH02022996;AMYH02022997;AMYH02022998;AMYH02022999;AMYH02023000;AMYH02023001;AMYH02023002;AMYH02023003;AMYH02023004;AMYH02023005;AMYH02023006;AMYH02023007;AMYH02023008;AMYH02023009;AMYH02023010;AMYH02023011;AMYH02023012;AMYH02023013;AMYH02023014;AMYH02023015;AMYH02023016;AMYH02023017;AY258587;AY258588;AY575848;AY575849;BC012005;BC050560;BC052966;CH471187;DQ867088;EF382674;FP565721;JQ890226;KF455235;NM_003631 AAB61614;AAH50560;AAH52966;AAP83314;AAP83316;AAT66421;AAT66422;ABH85399;ABR10027;AFM56043;BAG58236;BAG58607;BAG63288;BAG63826;EAW93079;NP_003622;Q86W56 Hs.535298;Hs.732225 1689109;1766243;1780476;2109627;2167155 PARG_8819;RH68500;RH69997;SHGC-149602;stbA746L15SP6 FLJ54459;FLJ60257;FLJ60456;PARG99 OTTHUMP00000019589;mitochondrial poly(ADP-ribose) glycohydrolase;poly(ADP-ribose) glycohydrolase;poly(ADP-ribose) glycohydrolase 60 kDa isoform APPROVED protein-coding ENSG00000227345 HGNC:8605 04611 603501 REVIEWED 1346150 PARK3 Parkinson disease (autosomal dominant, Lewy body) 3 ASSOCIATED WITH Parkinson Disease 3, Autosomal Dominant Lewy Body (inferred) 7240710 9500549 5072 1298185;1357238;7183245 D2S134;D2S286;D2S441 HGNC:8608 602404 1354265 PARK6 Parkinson disease (autosomal recessive) 6 ASSOCIATED WITH Parkinson Disease 6, Autosomal Recessive Early-Onset (inferred) 7240710 11254447 113879 HGNC:13873 605909 1349392 PARK4 Parkinson disease (autosomal dominant, Lewy body) 4 ASSOCIATED WITH Lewy Body Disease (inferred); PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (inferred); Parkinson Disease 4, Autosomal Dominant Lewy Body (inferred) 7240710 10867800;9887334 60454 HGNC:13794 127750;168601;605543 1345890 PARK8 Parkinson disease (autosomal dominant) 8 ASSOCIATED WITH PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (inferred) 7240710 HGNC:16368 607060 1350813 PARK9 Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome) ASSOCIATED WITH Parkinson disease 9 (inferred) 7240710 11584046 140600 HGNC:17832 606693 1604031 PARM1 prostate androgen-regulated mucin-like protein 1 INVOLVED IN positive regulation of telomerase activity (ortholog); FOUND IN early endosome; Golgi apparatus; late endosome; INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; cyclosporin A 4 4 4 q13.3-q21.3 73153545 73270621 + 75858285 75975325 + 74933075 75050115 + 6480464 10499539;11076863;11230166;12107410;12477932;12772192;12975309;14702039;15340161;15466293;15489334;15489336;16381901;18027867;18029348;20379614;22766399;23902727;8889548 25849 D6RBB6;Q6UWI2 ABBA01063342;AC098825;AC110760;AI767320;AI948471;AK022311;AK025205;AK026200;AL080121;AL602405;AMYH02009486;AMYH02009487;AY358777;BC013294;BG401757;BM512163;BM692302;CA388793;CA390477;CA843297;CH471057;NM_015393 AAH13294;AAQ89137;BAG51071;CAB45720;CAL38052;CAL38466;EAX05714;EAX05715;EAX05716;EAX05717;NP_056208;Q6UWI2 Hs.105460;Hs.623905 1644650;1654397;1654399;1658912;1669182;1669184;1674055;1684092;1713395;1715247;1735414;1856837;2164875 A005P21;A005X37;D4S2591E;D4S2887;D4S773;G20397;G20578;NIB1435;RH119553;RH119874;RH99328;SHGC-36704;WI-22409 Cipar1;DKFZP564O0823;PARM-1;WSC4 Castration-induced prostatic apoptosis-related protein 1;OTTHUMP00000219072;OTTHUMP00000219073;Prostatic androgen-repressed message 1;WSC4, cell wall integrity and stress response component 4 homolog;prostatic androgen-regulated mucin-like protein 1;prostatic androgen-repressed message-1 APPROVED protein-coding ENSG00000169116 HGNC:24536 08529 VALIDATED 1314669 PARL presenilin associated, rhomboid-like This gene encodes a mitochondrial integral membrane protein. Following proteolytic processing of this protein, a small peptide (P-beta) is formed and translocated to the nucleus. This gene may be involved in signal transduction via regulated intramembrane proteolysis of membrane-tethered precursor proteins. Variation in this gene has been associated with increased risk for type 2 diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 3 q27.1 181990550 182046014 - 183543522 183602693 - 183825741 183884905 - 6480464;8554872 12214059;12477932;12774122;14732705;15489334;15729572;16712791;17019603;17116872;18029348;18758826;19185381;19680265;19754948;19862556;20407791;20711738;20877624;21138942;21355049;21415861;21426348;21890473;21953724;22915595;23973714;24816145 55486 C9JNP8;F8WCQ4;H7C045;H7C0U0;H7C122;H7C1V6;Q9H300 ABBA01058468;ABBA01058469;ABBA01058470;ABBA01058471;AC068644;AC131160;AF197937;AK024765;AMYH02008296;AMYH02008297;AMYH02008298;AX616347;BC003653;BC014058;CA417847;CB122278;CH471052;CS072419;HB868292;HB868308;HB889229;HB889245;HC925701;HC925717;HC946638;HC946654;NM_001037639;NM_018622;XM_005247582;XM_005247583;XM_005247584;XM_005247585;XM_005247586;XM_005247587 AAG28519;AAH03653;AAH14058;ABM84368;ABM87748;CAD67638;CAI93557;CBF58125;CBF58133;CBF68751;CBF68759;CBU83560;CBU83568;CBU93625;CBU93633;EAW78311;EAW78312;NP_001032728;NP_061092;Q9H300;XP_005247639;XP_005247640;XP_005247641;XP_005247642;XP_005247643;XP_005247644 Hs.478469 1649299;1672326;1676962;1678955;1735176 D3S2822E;RH66907;RH79821;SHGC-33411;SHGC-77603 PRO2207;PSARL;PSARL1;PSENIP2;RHBDS1 OTTHUMP00000210934;OTTHUMP00000210935;OTTHUMP00000210937;OTTHUMP00000210938;mitochondrial intramembrane cleaving protease PARL;mitochondrial intramembrane-cleaving protease PARL;presenilins-associated rhomboid-like protein, mitochondrial;rhomboid 7 homolog 1 APPROVED protein-coding ENSG00000175193 HGNC:18253 08484 607858 REVIEWED 1344212 PARK7 parkinson protein 7 The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.23 7128771 7152398 + 8021714 8045342 + 7961654 7985282 + 1601073;1601076;1580863;6480464;6907045;7240710;8554872;8699517 12851414;16860563 11223268;11462174;11477070;12446870;12477932;12526767;12548343;12612053;12761214;12796482;12815653;12855764;12914946;12939276;12953260;14557580;14579415;14598065;14607841;14625045;14638971;14652021;14662519;14665635;14702039;14705119;14705128;14712351;14713311;14718574;14749723;14752510;14872018;14985393;15018843;15108293;15181200;15219840;15254937;15304593;15308309;15342556;15365989;15372597;15489334;15502874;15503154;15525661;15542239;15592455;15703819;15717024;15766664;15790595;15894486;15935068;15944198;15970950;15976810;15983381;16157901;16227205;16240358;16316629;16331561;16390825;16403519;16517609;16570276;16632486;16707095;16710414;16731528;16781058;17015834;17017532;17034344;17085780;17120294;17207965;17331951;17451229;17487420;17504761;17510388;17540176;17599367;17671684;17846173;17882163;17949781;18000879;18029348;18042550;18045143;18162323;18181649;18331584;18382667;18430896;18436956;18439917;18486522;18556627;18570440;18586035;18626009;18632777;18647263;18689799;18704525;18706098;18707128;18711745;18717316;18722352;18722801;18785233;18817430;18822273;18841573;18922803;18973254;18974921;19006224;19014922;19023331;19056867;19064576;19124468;19144925;19224617;19229105;19293155;19335984;19371728;19384955;19405094;19425177;19429112;19615732;19680261;19686841;19692353;19703902;19716892;19733211;19822128;19825160;19885556;19968671;20014998;20061558;20127688;20146068;20150646;20156966;20186336;20190752;20213747;20300974;20301402;20304780;20395301;20406884;20497343;20506312;20510502;20540987;20543466;20634198;20639397;20673799;20730377;20736773;20806408;20842103;20877624;20938049;20940149;21055329;21097510;21139048;21160133;21297633;21317550;21322020;21368136;21410067;21426932;21445310;21535932;21556124;21575935;21645326;21645620;21670963;21785459;21796667;21819105;21852238;21890473;21893204;21943684;22024154;22066264;22132160;22157000;22173095;22223849;22233331;22272336;22321799;22404125;22428580;22445250;22492997;22508282;22511790;22515803;22523093;22526154;22532838;22554508;22555455;22571429;22664331;22666465;22836768;22892098;22939629;22956510;22960331;22968650;22985211;23000965;23015639;23076395;23128233;23149933;23151319;23182168;23183826;23250426;23347603;23364796;23402259;23418303;23447676;23530187;23592371;23593018;23714193;23727824;23743200;23792957;23831022;23844142;23847046;23902708;23986421;24052110;24128678;24144264;24155657;24176883;24207095;24242043;24250222;24262325;24280570;24396292;24398929;24504364;24567322;24664754;24697266;24816145;24899725;24918637;9070310 11315 K7ELW0;K7EN27;Q99497;V9HWC2 AB073864;ABBA01035499;ABBA01035500;AF021819;AK091679;AK130886;AK312000;AL034417;AMYH02000203;AY648999;BC008188;BP248330;CH471130;D61380;EU794641;NG_008271;NM_001123377;NM_007262;XM_005263424 AAC12806;AAH08188;AAT68961;ACJ13695;ADQ32403;BAA09603;BAB71782;BAG34938;EAW71591;NP_001116849;NP_009193;Q99497;XP_005263481 Hs.419640 1670586 SHGC-74169 DJ-1;DJ1;FLJ27376;FLJ34360;FLJ92274;HEL-S-67p OTTHUMP00000001348;OTTHUMP00000001349;OTTHUMP00000001350;OTTHUMP00000001351;Parkinson disease (autosomal recessive, early onset) 7;Parkinson disease protein 7;epididymis secretory sperm binding protein Li 67p;oncogene DJ1 APPROVED protein-coding ENSG00000116288 HGNC:16369 03961 602533;606324 REVIEWED 1348471 PARN poly(A)-specific ribonuclease The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 16 16 16 p13 14706337 14900899 - 14529557 14724128 - 14435700 14630271 - 1580863;6480464;8554872 10640832;10698948;10801819;10882133;11230136;11359775;11424938;11719186;11742007;11790298;12429849;12477932;12748283;14527413;14702039;15175153;15231747;15358788;15489334;15635413;16281054;16317009;16344560;16601207;16964243;17081983;17391638;18029348;18694759;19103158;19394292;19901024;20379136;20379614;20932473;21139048;21741754;21890473;21906983;22586326;22727665;23000965;23388391;24250222;24816145;9099687;9736620 5073 B3KN69;B4DSB0;F5H1Z4;H3BRK1;H3BT23;H3BVG1;O95453 ABBA01006890;ABBA01006891;ABBA01006892;ABBA01006893;ABBA01006894;ABBA01006895;AC009167;AC092291;AC243753;AJ005698;AK023866;AK293189;AK299653;AK301648;AK303348;AK315020;AMYH02031545;AMYH02031546;AMYH02031547;AW338742;BC044763;BC050029;BF435512;CH471112;DA308295;KF456163;NM_001134477;NM_001242992;NM_002582 AAH50029;ADZ15574;BAG37510;BAG51231;BAG56729;BAG61572;BAG63126;BAG64410;CAA06683;EAW85110;EAW85111;NP_001127949;NP_001229921;NP_002573;O95453 Hs.253197 1680845;1695336;1706152;1733276;1762965;1851680;1854691;1857159;2115819;2131638;2148365;2219456 CHLC.GGAT12E11;D15S543;D16S3298;PARN__5827;RH69315;RH69799;SHGC-146717;SHGC-60511;SHGC-60554;SHGC-64760;SHGC-7079;SHGC-80119 DAN deadenylating nuclease;deadenylation nuclease;poly(A)-specific ribonuclease (deadenylation nuclease);poly(A)-specific ribonuclease PARN;polyadenylate-specific ribonuclease APPROVED protein-coding ENSG00000140694 HGNC:8609 07250 604212 REVIEWED 1348193 PARP10 poly (ADP-ribose) polymerase family, member 10 Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM, Mar 2008] 8 8 8 q24.3 141366147 141374558 - 145051320 145060635 - 143977152 143986467 - 6480464 12477932;14702039;15273990;15489334;15674325;16344560;16455663;18029348;18851833;21139048;21890473;22176891;22505724;22992334;23000965;23575687;24695737;8125298 84875 E9PIA6;E9PIK9;E9PJI2;E9PK67;E9PLE8;E9PM86;E9PNI7;E9PPE7;E9PPU2;E9PPV8;E9PQQ6;E9PSE7;E9PSG8;F8W8G7;Q53GL7 ABBA01005230;ABBA01005231;ABBA01005232;ABBA01005233;AC109322;AI470346;AK027370;AK075250;AK124017;AK128537;AK129821;AK222914;AK303317;AK308657;AK309251;AMYH02018949;BC014229;BC019030;BC020378;BC030549;BC035485;BC132961;BC136542;BC144235;CH471162;DA124793;NM_032789;XM_005251081 AAH14229;AAH19030;AAI32962;AAI36543;BAB55067;BAC11498;BAD96634;BAG54691;BAG64386;EAW82169;NP_116178;Q53GL7;XP_005251138 Hs.348609 1779448 SHGC-153430 ARTD10;FLJ14464 ADP-ribosyltransferase diphtheria toxin-like 10;OTTHUMP00000229634;OTTHUMP00000229635;OTTHUMP00000229636;OTTHUMP00000229637;PARP-10;poly [ADP-ribose] polymerase 10 APPROVED protein-coding ENSG00000178685 HGNC:25895 15100 609564 VALIDATED 1312545 PARD3B par-3 family cell polarity regulator beta INVOLVED IN cell division (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane (inferred); tight junction (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q33.3 199165594 200238308 + 205410516 206484886 + 204545793 205620162 + 1580863;6480464;8554872 11586298;12234671;12459187;12477932;12650946;14702039;15324660;15721295;15778465;16458856;18471798;20379614;20670164;20677014;20694014;21502085;22843504;23443559;23527680;24816145 117583 Q8TEW8;R4GN62 AB053321;AB073472;AB092439;ABBA01062624;ABBA01062625;ABBA01062626;ABBA01062627;ABBA01062628;ABBA01062629;ABBA01062630;ABBA01062631;ABBA01062632;ABBA01062633;ABBA01062634;ABBA01062635;ABBA01062636;ABBA01062637;ABBA01062638;ABBA01062639;AC007385;AC007465;AC007736;AC007746;AC008168;AC008171;AC009316;AC011750;AC016903;AC108468;AF428250;AF428251;AF466152;AI742400;AK056157;AK057965;AK312083;AL832951;AMYH02005607;AMYH02005608;AMYH02005609;AMYH02005610;AMYH02005611;AMYH02005612;AMYH02005613;AMYH02005614;AMYH02005615;AMYH02005616;AMYH02005617;AMYH02005618;AMYH02005619;AMYH02005620;AW274720;BC012984;CH471063;KF510215;NM_057177;NM_152526;NM_205863;XM_005246273;XM_005246274 AAI56253;AAI72499;AAL30664;AAL30665;AAL79827;AAX76515;AAX88974;AAX93083;AAY14757;AAY15023;AAY24228;AAY24245;AAY24325;BAB69028;BAB71106;BAB71623;BAC54035;BAC54285;BAG35019;EAW70358;EAW70359;EAW70360;NP_476518;NP_689739;NP_995585;Q8TEW8;XP_005246330;XP_005246331 Hs.657382 1335896;1645612;1654408;1661018;1661120;1665382;1665384;1666906;1677390;1695460;1698114;1708776;1715781;1721305;1721505;1728751;1728753;1728807;1728837;1728839;1728855;1758905;1769751;1771755;1773902;1776237;1846662;1847643;1851315;2117647;2118695;2124256;2125896;2134627;2135136;2147034;2155711;2181334;5092838 A006B04;A006J11;AFM224zg5;D2S2058;D2S2121;D2S2237;D2S248;G09542;G09792;G16441;G20667;G32361;G54512;G54514;G54515;G54516;G54517;G54518;G59606;G59650;RH102589;RH119339;RH16290;RH36347;RH36494;RH45224;RH45481;RH46159;RH80884;SHGC-13685;SHGC-150745;SHGC-34931;SHGC-68581;SHGC-81635;SHGC-9251;STS-AA009579;WI-11579;WI-17965;WI-9869 ALS2CR19;FLJ92364;MGC16131;PAR3B;PAR3L;PAR3LC;PAR3beta;Par3Lb OTTHUMP00000206092;OTTHUMP00000206093;OTTHUMP00000206094;OTTHUMP00000206095;PAR3-L protein;PAR3-beta;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein;par-3 partitioning defective 3 homolog B;partitioning defective 3 homolog B;partitioning defective 3-like protein;partitioning-defective 3-beta;partitioning-defective 3-like APPROVED protein-coding ENSG00000116117 HGNC:14446 09795 VALIDATED 1344916 PARP11 poly (ADP-ribose) polymerase family, member 11 ENCODES a protein that exhibits NAD+ ADP-ribosyltransferase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; valproic acid 12 12 12 p13.3 5540003 5604577 - 3907410 3982608 - 3808861 3873448 - 1580863;6480464;8554872 12477932;14702039;15273990;15489334;16189514;16541075;17207965;17353931;19060904;19615732;20125193;20379614;23263487;24204828;8889548 57097 F5H8L8;F8WBZ7;F8WFA3;G3V0I3;Q9NR21 ABBA01048774;AC005842;AC006207;AF263540;AK096373;AK299372;AK314916;AMYH02025911;BC017569;BC031073;BX640960;BX647487;BX953946;CH471116;CR749294;NM_001286521;NM_001286522;NM_020367;NR_104461;XM_005253710;XM_005253711;XM_005253714;XM_006718987 AAF91391;AAH17569;AAH31073;ADQ33190;BAG61362;CAE45979;CAH18149;EAW88852;EAW88853;EAW88854;EAW88855;EAW88856;NP_001273450;NP_001273451;NP_065100;Q9NR21;XP_005253767;XP_005253768;XP_005253771;XP_006719050 Hs.657268 1668604;1682475;1726019;1849834;2109403;2138095;2167750;2170032;2176780;5022450 D10S275;G41236;G41237;G41252;G41797;G62285;HSHIN1_9812;RH94352;SHGC-50260;WI-12349 ARTD11;C12orf6;DKFZp779H0122;MIB006 ADP-ribosyltransferase diphtheria toxin-like 11;OTTHUMP00000209901;OTTHUMP00000209902;OTTHUMP00000237988;PARP-11;poly [ADP-ribose] polymerase 11 protein-coding ENSG00000111224 HGNC:1186 15101 VALIDATED 1353381 PARP15 poly (ADP-ribose) polymerase family, member 15 PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008] 3 3 3 q21.1 120706259 120765360 + 122296435 122357894 + 122577588 122639047 + 1580863;6480464 12477932;14702039;15273990;15489334;16061477;16344560;19913121;20628086;21832049;22472876;24024966 165631 B7ZL48;C9J7L3;Q460N3 ABBA01016467;AC092908;AK097515;AK097916;AMYH02007541;AMYH02007542;BC101701;BC101703;BC143573;BX647656;CH471052;DB158535;DQ063586;NM_001113523;NM_152615;XM_005247159;XM_005247160;XM_005247161;XM_006713518 AAI01702;AAI01704;AAI43574;AAY64451;BAC05197;BAG53481;EAW79473;EAW79474;EAW79475;NP_001106995;NP_689828;Q460N3;XP_005247216;XP_005247217;XP_005247218;XP_006713581 Hs.120250 5015607;5022637;5118147 D11S2766;D11S3014;D11S3017 ARTD7;BAL3;FLJ40196;FLJ40597;MGC126750;MGC126752;pART7 ADP-ribosyltransferase diphtheria toxin-like 7;B-aggressive lymphoma 3;B-aggressive lymphoma protein 3;OTTHUMP00000215684;OTTHUMP00000215685;OTTHUMP00000215801;OTTHUMP00000215802;PARP-15;poly [ADP-ribose] polymerase 15 APPROVED protein-coding ENSG00000173200 HGNC:26876 08811 612066 VALIDATED 1350046 PARP16 poly (ADP-ribose) polymerase family, member 16 ENCODES a protein that exhibits kinase binding; NAD+ ADP-ribosyltransferase activity; protein serine/threonine kinase activator activity; INVOLVED IN activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response; negative regulation of cell death; FOUND IN endoplasmic reticulum; endoplasmic reticulum tubular network; membrane; INTERACTS WITH 17beta-estradiol; diazinon; ethyl methanesulfonate 15 15 15 q22.31 42428416 42457181 - 65550436 65579212 - 65234464 65286874 - 6480464 12477932;14702039;15273990;15489334;19946888;19953087;21139048;22505724;23103912 54956 H3BV75;Q8N5Y8 ABBA01038857;ABBA01038858;ABBA01038859;AC068213;AK000516;AK058010;AMYH02030623;BC006389;BC031074;CH471082;NM_017851;XM_005254516;XM_005254518;XM_006720589;XM_006720590;XM_006720591;XM_006720592;XR_429459;XR_429460 AAH06389;AAH31074;ADZ15717;BAA91222;EAW77718;EAW77719;EAW77720;EAW77721;NP_060321;Q8N5Y8;XP_005254573;XP_005254575;XP_006720652;XP_006720653;XP_006720654;XP_006720655 Hs.30634 1668139 WI-12537 ARTD15;C15orf30;FLJ20509;FLJ25281;pART15 ADP-ribosyltransferase diphtheria toxin-like 15;OTTHUMP00000164178;PARP-16;mono [ADP-ribose] polymerase PARP16;poly [ADP-ribose] polymerase 16 protein-coding ENSG00000138617 HGNC:26040 07919 PROVISIONAL 1351589 PARP1P1 poly (ADP-ribose) polymerase family, member 1 pseudogene 1 13 13 13 q34 92435373 92439174 + 111588971 111592579 + 110936624 110940232 + 2891139 144 ABBA01026990;AL442128;AMYH02028714;NG_002655 5015994 Parp1 ADPRTP1;PPOLP1 pseudo HGNC:275 INFERRED 1602134 PARP2 poly (ADP-ribose) polymerase 2 This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008] 14 14 14 q11.2-q12 672919 687220 + 20811773 20826063 + 20343614 20357904 + 6480464;6907045 10329013;10338144;10364231;10644454;11948190;12065591;12217960;14699148;14702039;15615785;16344560;16461352;17518695;18339380;18353725;18587655;18644123;18676401;19064572;19505873;19607827;19666485;19806447;19913121;20092359;20504901;20522537;20628086;21139048;21577210;21825151;21890473;23291187;24365238;24782312;7260241 10038 E9PJ27;G3V167;H0YH02;Q9UGN5 ABBA01061225;AF085734;AF479321;AJ236876;AJ236912;AK001980;AK290079;AK300971;AL355075;AMYH02028821;AMYH02028822;AX008892;BU541261;CH471078;DA354586;NG_033959;NM_001042618;NM_005484;XM_005267247 AAD29857;AAI72288;AAL77437;BAA92017;BAF82768;BAG62594;CAB41505;CAB65088;CAC07442;EAW66476;EAW66477;EAW66478;NP_001036083;NP_005475;Q9UGN5;XP_005267304 Hs.409412 1654789;1654791;1685936;1721015;2140286 G24108;G31064;G36285;G59489;RH93704 ADPRT-2;ADPRT2;ADPRTL2;ADPRTL3;ARTD2;PARP-2;hPARP-2;pADPRT-2 ADP-ribosyltransferase (NAD+, poly(ADP-ribose) polymerase)-like 2;ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2;ADP-ribosyltransferase diphtheria toxin-like 2;NAD(+) ADP-ribosyltransferase 2;OTTHUMP00000231900;OTTHUMP00000231902;OTTHUMP00000231904;poly (ADP-ribose) polymerase family, member 2;poly (ADP-ribosyl) transferase-like 2;poly [ADP-ribose] polymerase 2;poly(ADP-ribose) synthetase;poly[ADP-ribose] synthase 2;poly[ADP-ribose] synthetase 2 APPROVED protein-coding ENSG00000129484 HGNC:272 607725 REVIEWED 1604647 PARP3 poly (ADP-ribose) polymerase family, member 3 The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 p21.31-p21.1 51955186 51961708 + 51976297 51982883 + 51942286 51948867 + 6480464;6907045;8554872 10329013;10338144;10737800;12107410;12477932;12640039;15489334;16924674;17203305;17353931;19692168;19913121;20064938;20628086;21211721;21264220;21270334;21832049;23000965;24250222;24528514;24598253;7260241 10039 C9J9C7;F8WAY7;Q9Y6F1 AB208803;ABBA01024518;AC115284;AF083068;AI088919;AL050034;AMYH02006794;AX008894;AX008896;AY126341;BC014260;BF375394;BG818516;BU632340;CA394313;CH471055;KF459622;NM_001003931;NM_005485;XM_005264779;XM_006712914;Y16836 AAD29855;AAH14260;AAM95460;ADZ15443;BAD92040;CAB43246;CAC07443;CAC07444;CAC79988;EAW65160;EAW65161;EAW65162;EAW65163;NP_001003931;NP_005476;Q9Y6F1;XP_005264836;XP_006712977 Hs.271742 2117258;2142619 RH45748;SGC30878 ADPRT-3;ADPRT3;ADPRTL2;ADPRTL3;ARTD3;IRT1;PADPRT-3 ADP-ribosyltransferase (NAD+, poly (ADP-ribose) polymerase)-like 2;ADP-ribosyltransferase (NAD+, poly (ADP-ribose) polymerase)-like 3;ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 2;ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3;ADP-ribosyltransferase diphtheria toxin-like 3;NAD(+) ADP-ribosyltransferase 3;NAD+ ADP-ribosyltransferase 3;OTTHUMP00000211034;OTTHUMP00000212047;poly [ADP-ribose] polymerase 3;poly(ADP-ribose) synthetase-3;poly[ADP-ribose] synthase 3;poly[ADP-ribose] synthetase 3 APPROVED protein-coding ENSG00000041880 HGNC:273 06370 607726 REVIEWED 1606844 PARP1P2 poly (ADP-ribose) polymerase family, member 1 pseudogene 2 14 14 14 q22 43640302 43641236 + 63589719 63590653 + 63123001 63123935 + 2891139 145 ABBA01018319;AL137191;AMYH02029335;NG_002656 ADPRTP2;PPOLP2 pseudo HGNC:276 INFERRED 5688620 PARP4-AS1 PARP4 antisense RNA 1 (non-protein coding) q12.12 100861592 AL359763 miscrna HGNC:42806 1344897 PARP14 poly (ADP-ribose) polymerase family, member 14 Poly(ADP-ribosyl)ation is an immediate DNA damage-dependent posttranslational modification of histones and other nuclear proteins that contributes to the survival of injured proliferating cells. PARP14 belongs to the superfamily of enzymes that perform this modification (Ame et al., 2004 [PubMed 15273990]).[supplied by OMIM, Mar 2008] 3 3 3 q21.1 120809505 120859520 + 122399672 122449687 + 122680807 122730840 + 6480464;6484113;8554872 10574462;12477932;14702039;15273990;16061477;16344560;16537510;17478423;17875708;18029348;19946888;21081493;21139048;21145461;21333322;21890473;22505724;23045269;23575687;24238647;24332808;24886089;25015289 54625 H7C4Y3;H7C5R8;Q460N5;Q8N546 AA890511;AB033094;ABBA01016467;AC048348;AC092908;AK001770;AK022542;AK026003;AK027260;AK098816;AK304269;AMYH02007542;AU117601;AY134858;BC032804;BC039604;BU170133;BX648758;CH471052;CR977108;DC320673;DQ063584;DQ063585;NM_017554;XM_005247545;XR_427368 AAH32804;AAI72392;AAN08627;AAY64449;AAY64450;BAA86582;BAA91897;BAB14089;BAG65132;EAW79467;EAW79468;EAW79469;EAW79470;NP_060024;Q460N5;XP_005247602 Hs.518203 1678509;1725547;2153839;5037552;5109281;5116978 D1S1425;D3S4230;D8S2279;RH119172;RH93641;ha3298 ARTD8;BAL2;KIAA1268;PARP-14;pART8 ADP-ribosyltransferase diphtheria toxin-like 8;B-aggressive lymphoma 2;OTTHUMP00000215803;OTTHUMP00000215804;b aggressive lymphoma protein 2;collaborator of STAT6;poly [ADP-ribose] polymerase 14 APPROVED protein-coding ENSG00000173193 HGNC:29232 11421 610028 VALIDATED 1353563 PARP4P1 poly (ADP-ribose) polymerase family, member 4 pseudogene 1 Y Y Y q11.23 9672620 9712607 - 28740815 28780802 - 26594668 26634655 - 12815422 347613 ABBA01015475;ABBA01015476;ABBA01015477;ABBA01015478;ABBA01015479;AC019099;NG_002802 2145393;2187937;2187939;2187975;2187977;5116756;5116758;5116760;5116762 G66111;G66112;G66133;G66134;SHGC-3231;sY3166;sY3168;sY3169;sY3170 ADPRTL1P;PARP4P;PARP4PY1 APPROVED pseudo HGNC:18500 INFERRED 1318511 PARP12 poly (ADP-ribose) polymerase family, member 12 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN metabolic process (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 7 7 7 q34 134445394 134485377 - 139723544 139764086 - 140023744 140064286 - 1580863;6480464 11230166;12477932;12690205;12851707;12853948;14702039;15489334;16147992;19322201;19729601;20706999;21282530;21963094;21987572;22505724;24332808;24457600;9847074 64761 A4D1T0;G5E9U9;H7C4L8;H7C4T3;H7C4Z9;Q9H0J9 ABBA01034055;ABBA01034056;AC004849;AC004961;AC025816;AF173884;AK026346;AL136766;AL137255;AMYH02016895;AMYH02016896;BC044660;BC081541;CH236950;CH471070;NM_022750;XM_005250038;XM_005250039;XM_005250040;XR_242188 AAF66161;AAH81541;AAQ13631;BAB15457;CAB66700;CAB70657;EAL24033;EAW83938;EAW83939;NP_073587;Q9H0J9;XP_005250095;XP_005250096;XP_005250097 Hs.12646 2170177 D7S2914 ARTD12;FLJ22693;MST109;MSTP109;ZC3H1;ZC3HDC1 ADP-ribosyltransferase diphtheria toxin-like 12;OTTHUMP00000211946;poly [ADP-ribose] polymerase 12;zinc finger CCCH domain-containing protein 1;zinc finger CCCH type domain containing 1 protein-coding ENSG00000059378 HGNC:21919 15696 612481 PROVISIONAL 1606845 PARP4 poly (ADP-ribose) polymerase family, member 4 This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008] 13 13 13 q11 6058392 6150239 - 24995069 25086948 - 24420931 24512810 - 6480464;6907045;8554872 10100603;10477748;10551828;10644454;11291045;11479319;11855821;12101391;12123754;12140175;12404116;12477932;12829019;15057823;15169895;15781132;16344560;17203305;18029348;18676680;19056867;19170196;19471022;19536092;19625176;19692168;19946888;20379614;21139048;21658281;21906983;21963094;21988832;22190034;22505724;22939629;23000965;23251661;23438482;23739867;25117710;7937745;8724849 143 Q9UKK3 ABBA01007890;ABBA01007891;AF057160;AF158255;AK304399;AL359763;AMYH02027707;AMYH02027708;BC017815;BX479127;CA308288;CH471075;CV574448;D79999;DB238428;NM_006437;T10289 AAC62491;AAD47250;AAH17815;AAI67791;BAA11494;BAG65234;EAX08336;NP_006428;Q9UKK3 Hs.744855 1693632;1737401;2109629;2117851;2123437;2124358;2124391;2145393;2150517;2155298;5094006;5108018 A010A27;D13S980;G33050;PARP4_8194;RH25392;RH44582;RH44920;RH68557;SHGC-3231;SHGC-58546;STS-H65490;WI-17731 ADPRTL1;ARTD4;PARP-4;PARPL;PH5P;VAULT3;VPARP;VWA5C;p193 193 kDa vault protein;ADP-ribosyltransferase (NAD+, poly (ADP-ribose) polymerase)-like 1;ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1;ADP-ribosyltransferase diphtheria toxin-like 4;H5 proline-rich;I-alpha-I-related;OTTHUMP00000018130;PARP-related;PARP-related/IalphaI-related H5/proline-rich;poly [ADP-ribose] polymerase 4;poly(ADP-ribose) synthetase;poly(ADP-ribosyl)transferase-like 1;vault poly(ADP-ribose) polymerase;vault protein, 193-kDa;von Willebrand factor A domain containing 5C APPROVED protein-coding ENSG00000102699 HGNC:271 09598 607519 REVIEWED 3207651 PARP4P2 poly (ADP-ribose) polymerase family, member 4 pseudogene 2 13 13 13 q12.11 985133 1044155 + 19923276 19982293 + 19349136 19408153 + 645771 ABBA01068554;ABBA01068555;AL356259;AMYH02027613;NG_011399 1693632;1737399;2124358;2187939 A010A27;D13S979;G66112;SHGC-58546 KIAA1074 pseudo HGNC:37760 INFERRED 1345118 PARP1 poly (ADP-ribose) polymerase 1 This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008] 1 1 1 q41-q42 199739310 199786722 - 226548392 226595801 - 226360691 226408100 - 1601091;1601085;1580863;1601087;5510011;5510020;5510012;5510015;5510018;5510024;5510021;5683904;5683915;5683910;5683901;5683903;5683917;5684011;5684014;5683907;5683909;5683916;5684012;5683902;5684009;6480464;6907045;8554872 12594058;15911339;16026592;16356201;16461442;17362997;17976390;18093987;18716896;19454727;19741160;21282286;21311064;21596035;21613422;21651918;21705419;21767974;21850691;21884784;21978940;22051244;9390645;9670921 10077636;10082530;10400681;10405328;10467406;10471503;10744766;10750018;10799874;10944198;10958667;10964595;11070027;11123279;11248084;11248244;11258948;11443112;11509621;11536009;11590148;11591122;11756665;11781832;11790116;11846007;11941587;11948190;11956622;12011073;12117981;12217960;12404116;12477932;12496481;12519782;12528821;12592385;12606781;12632415;12640039;12642583;12668662;12673357;12674511;12704785;12714254;12853070;12897160;12898523;12930846;12960163;1424803;14500814;14557488;14559993;14585985;14596914;14612404;14623329;14627987;14642390;14699148;14702039;14715657;14734561;14754756;14759373;15019581;15044383;1505517;15100233;15103018;15110646;15133513;15186778;15205355;15205535;15247263;15257133;15280503;15286704;15292449;15304054;15331727;15342424;15374823;15375506;15385968;15489334;15489954;15498776;15498778;15536154;15555565;15561718;15564335;15572421;15576338;15580265;15607977;15615785;15635413;15640154;15650754;15672325;15674325;15703174;15705867;15729291;15731342;15737996;15743888;15750180;15767427;15774926;15777284;15781132;15808511;15819892;15821886;15826658;15848144;15866623;15895395;15940627;16002043;16107709;16115861;16123586;16179389;16188097;16196087;16204234;16207712;16212410;16230076;16262266;16284386;16306129;16323285;16328064;16344560;16364363;16386505;16405741;16407974;16412052;16429131;16449973;16490787;16492928;16522924;16543152;16620772;16621887;16627622;16628003;16682447;16794079;16799643;16818775;16889694;16890595;16904257;16920718;17088946;17148781;17158748;17172468;17187679;17203305;17214964;17220334;17225870;17242407;17244536;17283121;17283177;17290104;17295209;17308091;17314023;17322296;17340613;17360427;17361185;17385326;17396150;17403666;17413981;17428792;17459151;17518695;17529993;17540609;17548475;17560163;17562258;17596754;17616514;17643375;17703177;17785446;17803295;17884996;17889105;17900801;17908769;17943227;17961220;17975135;18006925;18025084;18029348;18054108;18054777;18055453;18073140;18078995;18164959;18172500;18206965;18230337;18258596;18258916;18259216;18279607;18280497;18309324;18312852;18314489;18330920;18338862;18339380;18347181;18357393;18376143;18406329;18439038;18445785;18452307;18483312;18506195;18587655;18599483;18619636;18636124;18663363;18676401;18676402;18676680;18695944;18723680;18752052;18768662;18773488;18779313;18781797;18922045;18945670;18954712;18990703;18996291;19012493;19029194;19030862;19056730;19060926;19064572;19074885;19087198;19103807;19109787;19116388;19124499;19135240;19139632;19144573;19147860;19170196;19181665;19247804;19281796;19303849;19322201;19344625;19368128;19369898;19372636;19447888;19470756;19471022;19484672;19506301;19513550;19515826;19529948;19536092;19544333;19553815;19557639;19568233;19585117;19596686;19604089;19607827;19615732;19622798;19625176;19636556;19643912;19655414;19661379;19666485;19680243;19684606;19692168;19703477;19710015;19711368;19723035;19738201;19759913;19762472;19779455;19784367;19784808;19789190;19809895;19812418;19863315;19877712;19897724;19913121;19916945;19925161;19946888;19961617;19962992;19996272;20000738;20016407;20025963;20038529;20060806;20064938;20068062;20072652;20080577;20085707;20098424;20113831;20124459;20129057;20137830;20145242;20150366;20177052;20181890;20196871;20211142;20218899;20219917;20223788;20232390;20302655;20303835;20353610;20373286;20388712;20399804;20404718;20453000;20473728;20486200;20493163;20493910;20495366;20504901;20514865;20522537;20525793;20544540;20550106;20559012;20561897;20562859;20564216;20564261;20573551;20574454;20587588;20596014;20603072;20619687;20628086;20629644;20639865;20644561;20652015;20665026;20668194;20711239;20731661;20817730;20823142;20832725;20837404;20868244;20875401;20876582;20940411;20950443;20953586;20967817;20977936;21031461;21037106;21081666;2108670;2109322;21095583;21127267;21139048;21145461;21182205;21183686;21187397;2121735;21224467;2123876;2125269;21252943;21256093;21266351;21282530;21293287;21319273;21424107;21434873;21447796;21460625;21469519;21476963;21487248;21489980;21518760;21532888;21547351;21549307;21555554;21568846;21575865;21577210;21605336;21607289;21612407;21644054;21646373;21674737;21679440;21680843;21690293;21693764;21729562;21730054;21756783;21775006;21825151;21849329;21858164;21875946;21890473;21906983;21907836;21908496;21915713;21942715;21945626;21976405;21983785;21986234;21987572;21988832;21997878;22053931;22057269;22101337;22118674;22120020;22127734;22134241;22146311;22153339;22158865;22166496;22193445;22198485;22216281;22221038;22227934;22300411;22334709;22337872;22344029;22384823;22387748;22392482;22412018;22447567;22450322;22451931;22454210;22472897;22542292;22550344;22582261;22586318;22623428;22624032;22634764;22660976;22683995;22751105;22753495;22820184;22844406;22854955;22863007;22864776;22880082;22926545;22939629;22944692;22948662;22982218;22983827;22993403;23000965;23020228;23022380;23027378;23031826;23038248;23040216;23045548;23049934;23073772;23085506;23104860;23110147;23132853;23169665;23182705;23219533;23229313;23229555;23244082;23254695;23255787;23275151;23301673;23317230;23319653;23355608;23398456;23410825;23429506;23430444;23455322;23455922;23467693;23479135;23486608;23510475;23537197;23548269;23554447;23563481;23568489;23574784;23576132;23577092;23593027;23608917;23633189;23640560;23644255;23708667;23757351;23760205;23760440;23762867;23775790;23785295;23807292;23824909;23825951;23833192;23871147;23883585;23910651;23913164;23923393;23926104;23939864;23940283;23974709;24013388;24038028;24043304;24055346;24079274;24085845;24088713;24140708;24180296;24191908;24197988;24203816;24219164;24239288;24239883;24270264;24275069;24319532;24332808;2434482;24356582;24378347;24392019;24550317;24556618;24583282;24588584;24591637;24636898;24782312;24816145;24842055;24843141;24856976;24886089;24956560;2498872;25027693;2513174;2824474;2891139;3029772;3103132;3113420;3120710;3121332;6293541;7596430;7642516;8125298;8226768;8491200;8804412;9197546;9312059;9315851;9398855;9518481;9537509;9548463;9563011;9565608;9584196;9586635;9642267;9875225 142 P09874;Q5VX84;Q5VX85 ABBA01009640;AF401218;AF524947;AK125650;AK225654;AK303340;AK312339;AL359704;AL359742;AMYH02002816;BC008660;BC014206;BC018620;BC021045;BC037545;CH471098;DB097441;HD117904;J03473;M17081;M18112;M29786;M32721;M60436;NM_001618;X16674;X56140 AAA51599;AAA51663;AAA60000;AAA60137;AAA60155;AAB59447;AAH14206;AAH18620;AAH37545;AAL02174;AAM75364;ABM82562;ABM85752;BAG35260;BAG64403;CAA34663;CAA39606;CBX74363;EAW69783;EAW69784;EAW69785;NP_001609;P09874 Hs.177766 1647898;1673473;1696482;1742429;1757369;1788018;1788020;1788022;1788024;1788026;1788028;1788030;1788032;1788034;1788036;2114779;2131191;2216996;5016881;5109751;5126437 ADPRT_3241;D1S2048E;G07110;G67244;G67245;G67246;G67247;G67248;G67249;G67250;G67251;G67252;G67253;GDB:196988;RH11161;RH70493;SHGC-144766;SHGC-30345;SHGC-76015;SHGC-76463;SHGC-79808 ADPRT;ADPRT 1;ADPRT1;ARTD1;PARP;PARP-1;PPOL;pADPRT-1 ADP-ribosyltransferase (NAD+, poly (ADP-ribose) polymerase);ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase);ADP-ribosyltransferase NAD(+);ADP-ribosyltransferase diphtheria toxin-like 1;NAD(+) ADP-ribosyltransferase 1;OTTHUMP00000035663;poly (ADP-ribose) polymerase family, member 1;poly [ADP-ribose] polymerase 1;poly(ADP-ribose) polymerase;poly(ADP-ribose) synthetase;poly(ADP-ribosyl)transferase;poly[ADP-ribose] synthase 1 2299934;2299935 PRSTS333_H;PRSTS334_H APPROVED protein-coding ENSG00000143799 HGNC:270 01435 173870 REVIEWED 1603670 PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative) ENCODES a protein that exhibits ATP binding (inferred); proline-tRNA ligase activity (inferred); INVOLVED IN gene expression (inferred); prolyl-tRNA aminoacylation (inferred); tRNA aminoacylation for protein translation (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH formaldehyde; lead(0); lead(2+) 1 1 1 p32.2 53510168 53517823 - 55222571 55230226 - 54756898 54764553 - 6480464 12477932;14702039;15489334;15779907;16344560;16710414;17207965;20186120;20562859;20877624;21890473;23263184 25973 Q7L3T8 ABBA01074707;AK025585;AK289679;AL117473;AL139244;AMYH02001059;BC007956;BC011758;CH471059;DB004072;NM_152268 AAH07956;AAH11758;ADQ32706;BAB15178;BAF82368;CAB55948;EAX06669;NP_689481;Q7L3T8 Hs.380169 1853942 SHGC-33399 DKFZp727A071;MGC14416;MGC19467;MT-PRORS;proRS OTTHUMP00000011559;probable proline--tRNA ligase, mitochondrial;probable prolyl-tRNA synthetase, mitochondrial;proline tRNA ligase 2, mitochondrial (putative);proline--tRNA ligase;prolyl-tRNA synthetase (mitochondrial)(putative);prolyl-tRNA synthetase, mitochondrial (putative) protein-coding ENSG00000162396 HGNC:30563 13220 612036 VALIDATED 1350347 PARP8 poly (ADP-ribose) polymerase family, member 8 ENCODES a protein that exhibits NAD+ ADP-ribosyltransferase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular; INTERACTS WITH (-)-epigallocatechin 3-gallate; cyclosporin A; potassium chromate 5 5 5 q11.1 46908424 47088865 + 49961733 50142356 + 50665899 50846522 + 1580863;6480464;8554872 11076863;11230166;11256614;12477932;14702039;15273990;15489334;15489336;16381901;21890473;22685421;23874384;24255178;8125298 79668 B2RB27;D6R914;D6R9T2;D6RAL6;D6RB30;D6RC81;D6RCA6;D6RCN2;D6RF37;D6RF59;D6RFH0;D6RGZ9;E9PFI7;F5H3X8;Q8N3A8 ABBA01015698;ABBA01015699;ABBA01015700;AC008919;AC022441;AC112187;AK024961;AK225188;AK289369;AK298680;AK314466;AL834477;AMYH02011277;AMYH02011278;AMYH02011279;AMYH02011280;AMYH02011281;BC037386;BC075801;BC105789;CH471123;DC417471;DC429180;NM_001178055;NM_001178056;NM_024615;XM_005248596;XM_005248597;XR_241789 AAH37386;AAH75801;AAI05790;BAB15044;BAF82058;BAG37074;BAG60843;CAD39136;CAL37882;EAW54857;EAW54858;EAW54859;NP_001171526;NP_001171527;NP_078891;Q8N3A8;XP_005248653;XP_005248654 Hs.369581 1671603;1701446;1735566;2138732;2144135;5093422 A009O31;D5S1682E;G32709;RH104355;WI-16811;WI-18174 ARTD16;FLJ21308;MGC42864;pART16 ADP-ribosyltransferase diphtheria toxin-like 16;OTTHUMP00000122441;OTTHUMP00000221823;OTTHUMP00000221824;OTTHUMP00000221827;poly [ADP-ribose] polymerase 8 protein-coding ENSG00000151883 HGNC:26124 07960 VALIDATED 1352322 PARVA parvin, alpha This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] 11 11 11 p15.3 12524458 12676606 + 12397988 12556903 + 12376441 12535356 + 1580863;2300344;6480464 16493410 11134073;11171322;11331308;11694518;11722847;12432066;12477932;12654898;12960424;14551191;14702039;15242332;15284246;15353548;15489334;15817463;16189514;16314921;16860736;17207965;17353931;17553790;18029348;18508764;18722108;18940607;18952167;18976975;19322201;19633364;19850743;20005845;20400778;20706999;20717960;21139048;21832049;21900206;22441983;22863883;22955285;23000965;23056266;23099104;23455922;23504997;23667531;24496929 55742 B7Z952;E9PS97;J3KNQ4;Q9NVD7 ABBA01061131;ABBA01061132;ABBA01061133;ABBA01061134;ABBA01061135;AC009806;AC025300;AF237771;AF325830;AK001655;AK022316;AK057835;AK098504;AK128814;AK304444;AMYH02024343;BC014535;BC016713;CH471064;DC344538;NM_018222;XM_005253015 AAG27173;AAH14535;AAH16713;AAK49911;ACE87003;ADQ32692;BAA91815;BAB14009;BAH14188;EAW68523;EAW68524;EAW68525;NP_060692;Q9NVD7;XP_005253072 Hs.432914 1643808;1658202;1687676;1716103;1721899;1737233;1782442;2110869;2146705;2174893;2176547;5022578;5094390 D11S1049;D11S3101;D11S973E;D1S1423;G54650;G59980;RH121016;RH16363;RH94062;SHGC-155066;STS-AA037636;STS-N23290;WI-13804 CH-ILKBP;FLJ10793;FLJ12254;FLJ25106;FLJ46049;MXRA2 OTTHUMP00000230952;actopaxin;alpha-parvin;calponin-like integrin-linked kinase-binding protein;matrix-remodeling-associated protein 2;matrix-remodelling associated 2 APPROVED protein-coding HGNC:14652 16283 608120 REVIEWED 730938 PARK2 parkin RBR E3 ubiquitin protein ligase The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008] 6 6 6 q25.2-q27 162497923 163878436 - 161768590 163148834 - 161347558 162727802 - 1302872;737763;1300048;1580863;6480464;6907045;7240710;8554872;8699517 12629236;14556719 10072423;10214987;10319893;10511432;10791092;10824074;10888878;10939576;10965160;10973942;11009195;11078524;11163284;11179010;11215568;11241385;11248588;11278816;11402119;11405814;11431533;11439185;11468333;11487568;11527378;11588587;11590439;11679592;11839750;11889248;11971093;12000718;12034719;12044248;12112109;12114481;12116199;12138708;12150907;12165399;12270650;12362318;12364339;12374768;12397156;12477932;12548339;12548343;12584415;12628165;12634850;12670421;12673578;12676955;12691660;12692130;12707457;12716939;12719539;12730996;12764050;12781599;12783850;12784265;12815654;12891670;12925569;12928331;12963044;12972409;12972428;12973932;12975291;14519684;14532270;14559152;14574404;14579121;14614460;14639672;14645198;14678753;14727181;14737177;14962978;14976155;14987449;14991825;15078880;15090075;15101042;15102676;15105460;15108293;15132984;15192821;15198987;15229644;15252205;15261877;15266615;15300670;15315343;15326242;15453267;15455441;15456787;15489334;15492001;15525661;15557340;15584030;15603737;15606901;15632191;15642853;15717024;15718234;15728840;15737990;15781988;15823482;15862897;15894486;15896322;15944382;15963499;15970950;15987638;16019250;16049031;16086186;16096643;16130151;16135753;16157901;16169070;16189514;16215938;16227559;16227987;16244875;16269266;16287063;16332688;16339143;16344560;16352719;16367892;16391553;16449237;16455660;16476817;16500134;16502212;16511856;16517073;16606767;16636914;16637659;16643317;16672220;16714300;16720581;16734611;16769863;16793319;16819513;16826604;16837855;16840513;16862145;16905117;16914382;16955485;17017530;17068781;17097639;17187375;17207965;17267552;17280783;17285542;17314283;17324265;17327227;17329252;17335904;17353387;17400506;17415800;17465879;17467279;17512523;17553932;17599067;17680541;17682061;17687034;17722288;17724286;17766365;17846173;17873367;17883392;17934880;17935510;17976945;17989306;18003639;18004887;18022644;18068301;18188499;18195004;18211709;18221368;18248610;18248624;18331811;18335262;18362144;18378882;18387843;18413468;18464276;18486522;18514563;18519021;18519826;18541373;18554280;18560894;18561034;18644660;18671761;18704525;18759365;18784277;18785233;18845538;18927607;18936941;18942080;18951541;18957282;18973254;18973255;18987353;19006224;19013454;19029340;19036992;19038850;19043545;19050041;19060904;19067348;19087301;19146857;19162522;19167501;19205068;19224617;19228951;19229105;19240029;19279012;19285961;19297328;19330201;19339245;19351622;19358826;19377297;19405094;19473361;19475582;19483198;19491146;19526454;19585504;19610108;19615059;19617340;19617636;19628420;19631192;19636047;19651786;19663908;19672985;19679562;19692353;19715670;19716418;19723394;19726410;19734163;19741132;19801972;19822161;19863651;19875440;19880420;19909784;19913121;19946270;20031566;20034704;20043906;20089134;20089136;20098416;20146068;20153330;20171192;20182943;20188730;20301334;20301402;20301651;20379614;20399249;20404107;20424582;20450912;20483373;20506312;20508036;20547844;20558392;20571283;20573959;20604804;20628086;20629119;20630868;20643691;20652448;20686608;20696900;20798600;20800584;20810900;20823226;20842103;20854080;20871098;20876472;20885945;20889486;20889974;20890124;20940148;20969957;21113145;21131737;21147754;21173115;21177257;21187721;21205674;21209200;21215313;21221875;21292769;21296869;21322020;21348451;21360662;21376232;21408142;21466165;21500544;21532592;21534944;21535932;21568911;21584286;21590270;21615408;21625934;21635879;21640711;21663383;21694720;21753002;21816242;21856206;21865652;21900206;21915905;21930938;21993715;21996382;22008525;22009144;22011618;22028146;22057787;22078885;22080835;22081612;22082830;22095653;22200450;22233331;22271254;22287053;22302706;22308057;22314364;22350919;22354088;22361577;22377733;22388932;22396657;22431710;22445249;22488424;22511790;22517668;22555654;22724072;22766139;22773346;22777964;22792159;22813976;22910362;22927236;22939624;22954671;22956510;22993228;23010174;23052943;23060438;23068103;23125027;23164820;23212910;23225159;23256036;23258539;23275044;23313576;23319602;23345212;23350010;23382691;23392669;23393160;23436552;23447676;23459986;23470638;23503661;23531835;23535647;23555273;23608757;23616242;23644658;23670163;23707686;23727886;23737459;23751051;23767969;23770887;23770917;23852447;23861666;23868535;23933751;23962723;23985028;23986421;24005319;24013556;24023840;24063657;24063750;24079843;24096089;24149440;24149988;24167364;24190026;24231739;24242043;24244333;24250222;24298989;24328108;24357652;24386307;24423640;24446486;24582596;24647965;24660806;24721425;24722188;24751536;24784582;24790097;24793136;24879156;24999239;25101677;9014427;9042918;9560156;9570960;9634531;9731209;9802278 5071 B1AKC3;O60260;X5DR79 AB009973;AB245403;ABBA01015120;ABBA01015121;ABBA01015122;ABBA01015123;ABBA01015124;ABBA01015125;ABBA01015126;ABBA01015127;ABBA01015128;ABBA01015129;ABBA01015130;ABBA01015131;ABBA01015132;ABBA01015133;ABBA01015134;ABBA01015135;ABBA01015136;ABBA01015137;ABBA01015138;ABBA01015139;ABBA01015140;ABBA01015141;ABBA01015142;ABBA01015143;ABBA01015144;ABBA01015145;ABBA01015146;AF381282;AF381283;AF381284;AF381286;AK292590;AK294684;AL008631;AL035697;AL078583;AL132982;AL138716;AL445215;AMYH02014893;AMYH02014894;AMYH02014895;AMYH02014896;AMYH02014897;AMYH02014898;AMYH02014899;AMYH02014900;AMYH02014901;AMYH02014902;AMYH02014903;AMYH02014904;AMYH02014905;AMYH02014906;AMYH02014907;AMYH02014908;AMYH02014909;AMYH02014910;AMYH02014911;AMYH02014912;AMYH02014913;AMYH02014914;AMYH02014915;AMYH02014916;AMYH02014917;AMYH02014918;AMYH02014919;AMYH02014920;AMYH02014921;AMYH02014922;AP000886;AP000887;AP000888;AP001576;AP001577;AP001578;AP002091;AP003699;AY463003;AY564223;AY564224;AY564225;AY745246;AY745247;BC022014;CH471051;DB023187;EF375726;GU345837;GU345838;GU345839;GU345840;GU357501;GU357502;GU361466;GU361467;GU361468;GU361469;GU361470;KC774171;KF458345;KF458347;KF458348;KF458349;KF458350;KF495747;KJ534911;KJ534912;NG_008289;NM_004562;NM_013987;NM_013988 AAH22014;AAM21457;AAM21458;AAM21459;AAM21461;AAR27057;AAS88420;AAS88421;AAS88422;AAU93631;AAU93632;ABN46990;ADB90269;ADB90270;ADB90271;ADB91978;ADB91979;ADB91980;ADB91981;ADQ31803;AGP25366;AHW56551;AHW56552;BAA25751;BAF43729;BAF85279;BAG57845;EAW47571;EAW47572;EAW47573;EAW47574;NP_004553;NP_054642;NP_054643;O60260 Hs.132954 1331554;1336738;1338732;1340170;1341718;1645524;1652462;1677136;1693316;1704398;1706448;1707164;1710292;1714193;1718979;1719449;1726643;1752937;1755051;1763125;1764061;1766533;1767011;1778448;1792662;1857403;2118874;2119545;2121705;2128141;2148096;2149234;2153678;2153689;2155214;2165845;2171675;5022450;5024039;5037552;5109281;7183731;7187100;7189789;7189791 AFMa155td9;AFMb281wf1;D10S275;D11S1289;D16S325;D1S1425;D6S1404;D6S1550;D6S1599;D6S2153;D6S253;D6S305;D6S411;D6S955;D8S2279;FB8B6;G10328;G17030;G42363;G62556;PMC156308P1;RH119707;RH123198;RH123443;RH37445;RH37467;RH45460;RH76397;SHGC-106786;SHGC-141992;SHGC-146858;SHGC-147718;SHGC-149848;SHGC-152656;SHGC-53410;SHGC-79163;SHGC-79722;SHGC-80808;SHGC-85252;SHGC-8992;WI-11670 AR-JP;LPRS2;PDJ;PRKN E3 ubiquitin ligase;E3 ubiquitin-protein ligase parkin;OTTHUMP00000017562;OTTHUMP00000017563;OTTHUMP00000017564;OTTHUMP00000017565;OTTHUMP00000017566;OTTHUMP00000017567;Parkinson disease (autosomal recessive, juvenile) 2, parkin;parkin 2;parkinson disease protein 2;parkinson juvenile disease protein 2;parkinson protein 2, E3 ubiquitin protein ligase (parkin) APPROVED protein-coding ENSG00000185345 HGNC:8607 03967 167000;211980;600116;602544;607572 REVIEWED 1344996 PARP6 poly (ADP-ribose) polymerase family, member 6 ENCODES a protein that exhibits NAD+ ADP-ribosyltransferase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; methyl methanesulfonate; potassium chromate 15 15 15 q23 49419859 49449959 - 72533522 72564885 - 72241181 72272544 - 6480464;8554872 12477932;14702039;15273990;15489334;16344560;20379614;22863883;23042038;24250222 56965 F5H3B4;H3BMA3;H3BQ70;H3BQK2;H3BQM7;H3BRR4;H3BRZ3;H3BSK7;H3BTE2;H3BTI3;H3BUQ6;H3BUY2;Q2NL67 AB499727;AB499728;ABBA01038734;AC009690;AK021790;AK022547;AK024703;AK091172;AK126416;AL122091;AL390087;AL390093;AMYH02030752;BC015176;BC015314;BC026955;BC110902;BC119688;BC119689;CH471082;DB121441;NM_020214;XM_005254557;XM_005254558;XM_005254559;XR_243112;XR_243113;XR_243114;XR_243115;XR_243116;XR_429467 AAH15314;AAI10903;AAI19689;AAI19690;BAB13896;BAB14092;BAB14969;BAG54325;BAM37974;BAM37975;CAB59261;CAB98210;CAB98250;EAW77891;EAW77892;EAW77893;EAW77894;EAW77895;EAW77896;EAW77897;EAW77898;EAW77899;NP_064599;Q2NL67;XP_005254614;XP_005254615;XP_005254616 Hs.270244 1649021;1752831;2154323;5015621;5022651;5024545 D11S2921;D11S3732;D1S3695;RH44558;SHGC-106695;SHGC-34438 ARTD17;MGC131971;PARP-6;PARP-6-B1;PARP-6-C;pART17 ADP-ribosyltransferase diphtheria toxin-like 17;OTTHUMP00000164645;poly [ADP-ribose] polymerase 6 protein-coding ENSG00000137817 HGNC:26921 15102 PROVISIONAL 1605996 PARPBP PARP1 binding protein ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN negative regulation of double-strand break repair via homologous recombination; FOUND IN chromatin; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 12 12 12 q23.2 102177976 102255257 + 102513956 102591298 + 102120171 102197520 + 6480464 12477932;14702039;15489334;16344560;18029348;19893584;20379614;20931645;21906983;21963094;22153967;22505724;23039964;23436799;24396997 55010 B4DT40;B4DZ31;G8JLI2;H0Y6B3;J3KQY3;Q9NWS1 AA757264;ABBA01053230;ABBA01053231;AC079907;AC087882;AF274940;AK000648;AK300041;AK302724;AK303571;AMYH02027078;BC014313;BC018903;BC030962;BC050696;BC070270;BC098297;BC098313;BC099734;BC099844;CH471054;DB260405;NM_017915;XM_006719470 AAH18903;AAH30962;AAH50696;AAH70270;AAH98313;AAH99734;AAH99844;AAK07517;BAA91306;BAG61852;BAG63943;BAG64592;EAW97690;EAW97691;EAW97692;NP_060385;Q9NWS1;XP_006719533 Hs.330663 1697068;1743535;2169181;2186960;2189409;2189507 D12S1939;D5F143S1;G73161;MARC_5061-5062:991939462:1;RH102014;RH65938 AROM;C12orf48;FLJ20641;PARI OTTHUMP00000237306;OTTHUMP00000237310;OTTHUMP00000237311;OTTHUMP00000237313;PARP-1 binding protein;PARP1-binding protein;PCNA-interacting partner;hypothetical protein LOC55010 APPROVED protein-coding ENSG00000185480 HGNC:26074 07937 613687 VALIDATED 1347584 PARP9 poly (ADP-ribose) polymerase family, member 9 ENCODES a protein that exhibits NAD+ ADP-ribosyltransferase activity; INVOLVED IN double-strand break repair; regulation of response to interferon-gamma; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; membrane; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 3 3 3 q21 120656569 120693333 - 122246757 122283523 - 122527910 122564676 - 737633;6480464;8554872 12477932 11110709;12670957;14702039;15342556;15489334;15902274;16344560;16809771;18339380;18854154;19946888;21139048;21890473;22472876;22939629;23000965;23230272;23487038;23898208;24332808;24886089;8889548 83666 C9K0E5;G5E9U8;Q59ER9;Q8IXQ6 AB209742;ABBA01016467;AC092908;AC096861;AF307338;AF307339;AK092629;AK123412;AK125581;AK130147;AK292959;AK299107;AK313494;AL713679;AL832929;AMYH02007539;AMYH02007540;AMYH02007541;BC017463;BC039580;BP259272;BU675792;BX648869;CH471052;DB096326;DC309545;DC368112;NM_001146102;NM_001146103;NM_001146104;NM_001146105;NM_001146106;NM_031458;XM_005247820 AAH39580;AAK07558;AAK07559;BAD92979;BAF85648;BAG36276;BAH12952;CAD28483;CAH56133;CAH56290;EAW79477;EAW79478;EAW79479;NP_001139574;NP_001139575;NP_001139576;NP_001139577;NP_001139578;NP_113646;Q8IXQ6;XP_005247877 Hs.518200 1686836 RH91264 ARTD9;BAL;BAL1;DKFZp666B0810;DKFZp686M15238;FLJ26637;FLJ35310;FLJ41418;FLJ43593;MGC:7868;PARP-9 ADP-ribosyltransferase diphtheria toxin-like 9;OTTHUMP00000215678;OTTHUMP00000215679;OTTHUMP00000215680;OTTHUMP00000215681;OTTHUMP00000215682;b aggressive lymphoma protein;poly (ADP-ribose) polymerase 9;poly [ADP-ribose] polymerase 9 protein-coding ENSG00000138496 HGNC:24118 10686 612065 VALIDATED 1346433 PASD1 PAS domain containing 1 This gene encodes a protein that is thought to function as a transcription factor. The protein is a cancer-associated antigen that can stimulate autologous T-cell responses, and it is therefore considered to be a potential immunotherapeutic target for the treatment of various hematopoietic malignancies, including diffuse large B-cell lymphoma. [provided by RefSeq, May 2010] X X X q28 150980699 151093569 + 150732007 150845211 + 151563535 151676739 + 1580863;6480464;8554872 11076863;11256614;12477932;14702039;15122589;15162151;15489336;16112646;16344560;16381901;17024112;17114574;18029348;19471022;19552722;19886887;20861911;21693764;21832049 139135 Q8IV76 ABBA01037236;ABBA01037237;ABBA01037238;ABBA01037239;ABBA01037240;ABBA01037241;ABBA01037242;ABBA01037243;ABBA01037244;ABBA01037245;ABBA01037246;ABBA01037247;ABBA01037248;AF274854;AK097552;AMYH02040781;AMYH02040782;AY270020;AY623425;BC040301;BX546454;CH471169;DB095017;DB523527;NG_021218;NM_173493 AAH40301;AAQ01136;AAT49049;BAC05097;CAL37909;EAW99406;NP_775764;Q8IV76 Hs.160594 1696888;1703888;1758093;1779974;1787206;1787330;1795170 HSC268_(Di92);SHGC-106509;SHGC-147385;SHGC-154179;SHGC-154220;SHGC-83595;c03503sbk CT63;OXTES1 OTTHUMP00000025872;PAS domain-containing protein 1;cancer/testis antigen 63 APPROVED protein-coding ENSG00000166049 HGNC:20686 06613 REVIEWED 2302586 PART1 prostate androgen-regulated transcript 1 (non-protein coding) This gene is induced by androgen in prostate adenocarcinoma cells. Multiple alternatively transcript variants have been described for this gene, none of which are predicted to encode a protein product. [provided by RefSeq, Sep 2009] 5 5 5 q12.1 56724647 56784588 + 59783540 59843484 + 60487713 60547657 + 6480464;8554872 10706094;12477932;14702039;15489334;23726844;8619474;9110174 25859 ABBA01015801;AC008818;AC016591;AC109486;AF070547;AF163474;AF163475;AK094518;AK312071;AL050198;AMYH02011368;AMYH02011369;BC069304;BC096696;BC096727;BC098111;BQ898163;HG498001;NR_024617;NR_028508;NR_028509 AAF62861;AAF62862;BAG35007 Hs.146312 1758485;1773828;2179583;2220380;2220452;5022588 D5S1597E;RH69891;SHGC-148443;UniSTS:480954;UniSTS:482676;WI-21199 DKFZp586D0823;NCRNA00206 APPROVED ncrna ENSG00000152931 HGNC:17263 09230 604991 VALIDATED 1602157 PATE2 prostate and testis expressed 2 FOUND IN extracellular space 11 11 11 q24.2 122806243 122808931 - 125646025 125648714 - 125772651 125778834 - 12477932;12975309;18387948;22082156;22402205 399967 Q6UY27 ABBA01031238;AMYH02025737;AP003087;AY358105;BC137190;BC137193;BC144526;CH471065;NM_212555;XR_428975 AAI37191;AAI37194;AAI44527;AAQ88472;EAW67663;NP_997720;Q6UY27 Hs.369185 C11orf38;PATE-M;UNQ3112 LVLF3112;OTTHUMP00000231316;OTTHUMP00000231317;PATE-like protein M;prostate and testis expressed protein 2;prostate and testis expression M protein-coding ENSG00000196844 HGNC:32249 15617 VALIDATED 1606423 PATL1 protein associated with topoisomerase II homolog 1 (yeast) ENCODES a protein that exhibits poly(A) RNA binding; poly(G) binding; poly(U) RNA binding; INVOLVED IN cytoplasmic mRNA processing body assembly; deadenylation-dependent decapping of nuclear-transcribed mRNA; ASSOCIATED WITH Melanoma (inferred); FOUND IN CCR4-NOT complex; cytoplasmic mRNA processing body; intracellular membrane-bounded organelle; INTERACTS WITH (-)-demecolcine; 2-methylcholine; arsane 11 11 11 q12.1 56766936 56799259 - 59404189 59436513 - 59636716 59669040 - 6480464;8554872 11076863;11230166;12477932;14702039;15302935;15489336;16381901;17936923;18029348;19322201;20020773;20360068;20543818;20584987;20826699;20852261;21139048;21832049;22090346;22437941;22939629;23535175;24250222;24550385;24778252;24816145 219988 Q86TB9 AB065087;ABBA01021505;AK094193;AK127649;AK127943;AK293213;AL831992;AMYH02024866;AP000442;AP000640;BC023255;BC048309;BC065264;BC109038;BC109039;BC111047;CH471076;DC409866;NM_152716;XM_005273833;XM_005273834;XM_005273835 AAH65264;AAI09039;AAI09040;AAI11048;BAB93524;BAC04305;BAG54542;BAG54601;BAH11469;CAD89916;CAL37837;EAW73850;EAW73851;NP_689929;Q86TB9;XP_005273890;XP_005273891;XP_005273892 Hs.591960 1674399;1675581;1698590;1732237;2142366 D11S1810;RH102847;RH91886;STS-AA019553;WI-14640 FLJ36874;MGC125671;MGC125672;Pat1b;hPat1b OTTHUMP00000235907;PAT1-like protein 1;protein PAT1 homolog 1;protein PAT1 homolog b protein-coding ENSG00000166889 HGNC:26721 08214 614660 VALIDATED 1314594 PASK PAS domain containing serine/threonine kinase This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 2 2 2 q37.3 235715217 235758602 - 242045514 242089394 - 241106099 241149979 - 1580863;6480464;8554872 11459942;11688972;12168954;12377121;12477932;14702039;15148392;15302935;15489334;16275910;16344560;17353931;17595531;18029348;20943661;21139048;21181396;21327866;21906983;22065581;22219681;22939624;23456168;23602568;23721480;23853095;24778252;8590280;8619474;9110174 23178 B7Z7R6;B7Z7V7;C9J1Z3;C9J4R3;F5GYW7;F8WEB4;H7C0L7;Q96RG2 ABBA01006038;ABBA01006039;AC005237;AF067137;AF387103;AK026769;AK056516;AK296945;AK302417;AK302561;AL117400;AMYH02006107;BC020054;BC043495;BC050565;BC063585;CH471063;CR749231;D50925;DA104684;NM_001252119;NM_001252120;NM_001252122;NM_001252124;NM_015148;U79240;XM_005246990;XM_005246991;XR_427079 AAB50198;AAC23506;AAH43495;AAH50565;AAH63585;AAK69752;BAA09484;BAH12460;BAH13702;BAH13743;CAB55901;CAH18087;EAW71236;EAW71237;EAW71238;EAW71239;EAW71240;EAW71241;EAW71242;NP_001239048;NP_001239049;NP_001239051;NP_001239053;NP_055963;Q96RG2;XP_005247047;XP_005247048 Hs.397891 1649218;1690200;1728493;2151874;2219458;5022578 D1S1423;G42011;G63684;PASK__5828;RH25358;SHGC-30587 DKFZp434O051;DKFZp686P2031;KIAA0135;STK37;hPASK OTTHUMP00000164573;OTTHUMP00000200460;OTTHUMP00000200461;OTTHUMP00000200462;PAS domain-containing serine/threonine-protein kinase;PAS-kinase;PAS-serine/threonine kinase;PASKIN;per-arnt-sim (PAS) domain kinase APPROVED protein-coding ENSG00000115687 HGNC:17270 06328 607505 REVIEWED 1606693 PATE1 prostate and testis expressed 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH disodium selenite 11 11 11 q24.2 122776443 122779997 + 125616180 125619743 + 125746293 125749848 + 6480464;8554872 11880645;12477932;15798027;18387948;22402205 160065 Q8WXA2 ABBA01031238;AF462605;AMYH02025737;AP003087;BC039863;BC107044;CH471065;NM_138294 AAH39863;AAI07045;AAL68667;EAW67660;EAW67661;EAW67662;NP_612151;Q8WXA2 Hs.148565 2107483 PATE__7045 MGC129554;PATE OTTHUMP00000231314;OTTHUMP00000231315;expressed in prostate and testis;prostate and testis expressed protein 1 protein-coding ENSG00000171053 HGNC:24664 06034 606861 VALIDATED 2302529 PATE4 prostate and testis expressed 4 INVOLVED IN regulation of synaptic transmission (inferred); response to wounding (inferred); FOUND IN acrosomal vesicle (inferred); extracellular space (inferred); INTERACTS WITH genistein (ortholog); thioacetamide (ortholog) 11 11 11 q24.2 122863433 122870194 + 125703211 125709967 + 125833316 125840072 + 6480464 14702039;18387948;18390568;22402205 399968 E9PK74;P0C8F1 ABBA01031237;AI674374;AK123042;AK311509;AMYH02025738;AP000842;AP003087;AW296313;NM_001144874 NP_001138346;P0C8F1 Hs.436215 FLJ41047;PATE-B OTTHUMP00000229024;PATE-like protein B;prostate and testis expressed protein 4;prostate and testis expression B protein-coding ENSG00000237353 HGNC:35427 VALIDATED 2302531 PATE3 prostate and testis expressed 3 FOUND IN extracellular region (inferred) 11 11 11 q24.2 122818224 122821713 + 125658006 125661495 + 125788111 125791600 + 11181995;18387948;18390568;23077236 100169851 B3GLJ2 ABBA01031238;AMYH02025737;AP003087;CH471065;EF426753;EU703625;NM_001129883 ABR09862;ACD81924;B3GLJ2;EAW67664;NP_001123355 Hs.131278 HEL-127;PATE-DJ OTTHUMP00000231318;PATE-like protein DJ;acrosomal vesicle protein HEL-127;prostate and testis expressed protein 3;secreted TFP/Ly-6/uPAR protein PATE-DJ protein-coding ENSG00000236027 HGNC:35426 VALIDATED 2303478 PATL2 protein associated with topoisomerase II homolog 2 (yeast) ENCODES a protein that exhibits RNA binding (ortholog); INVOLVED IN negative regulation of translation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus (ortholog); ribonucleoprotein complex (ortholog); INTERACTS WITH (+)-catechin 15 15 15 q21.1 21847682 21858837 - 44957930 44970894 - 44665732 44678696 - 8554872 12477932;17936923 197135 C9JE40;H0YMQ2;H0YMS5;H0YN77;H0YNY1 ABBA01039198;AC009996;AC025270;AMYH02030345;AW138454;BC036924;BI835136;BI909158;DN831868;DR007980;JC740890;NM_001145112;XM_005254224;XM_006720431 C9JE40;CEF39445;NP_001138584;XP_005254281;XP_006720494 Hs.11594 2130271 WI-11756 Pat1a;hPat1a PAT1-like protein 2;protein PAT1 homolog 2;protein PAT1 homolog a;protein associated with topoisomerase II homolog 2 protein-coding ENSG00000229474 HGNC:33630 614661 VALIDATED 7255810 PAWRP1 PRKC, apoptosis, WT1, regulator pseudogene 1 10 10 10 90684544 90685115 + 96943405 96943976 + 95183648 95184219 + 100420526 ABBA01021840;AL157834;AMYH02023579;NG_025536 pseudo HGNC:45201 INFERRED 7250955 PAWRP2 PRKC, apoptosis, WT1, regulator pseudogene 2 16 16 28761283 28761916 - 28749962 28750595 - 100420535 ABBA01113665;AC145285;AMYH02031809;NG_026355 pseudo HGNC:45202 INFERRED 69120 PAWR PRKC, apoptosis, WT1, regulator The tumor suppressor WT1 represses and activates transcription. The protein encoded by this gene is a WT1-interacting protein that itself functions as a transcriptional repressor. It contains a putative leucine zipper domain which interacts with the zinc finger DNA binding domain of WT1. This protein is specifically upregulated during apoptosis of prostate cells. [provided by RefSeq, Jul 2008] 12 12 12 q21 79652459 79751312 - 79985745 80084877 - 79584879 79691010 - 6480464;6484113 10393834;10602480;11278808;11382383;11585763;11755531;11910304;12242017;12477932;12565819;12644474;12685825;12717420;12897127;12917339;13680279;14627703;14702039;14755681;15001356;15090548;15146197;15246161;15316756;15359646;15489334;15657440;15671026;15831492;16051151;16169070;16229834;16369487;16382046;16720717;16966277;16969273;17332319;17881119;17883592;17893871;18029348;18041764;18085546;18281137;18506731;18650932;18660514;18676842;18836307;18922975;18951430;18991852;19099901;19250735;19470463;19632185;19801652;19823030;20067857;20082875;20127709;20360068;20368356;20433755;20468064;20473970;20514395;20561531;20637369;20724592;21139048;21328340;21526495;21555373;21567071;21764283;21890473;22184067;22532571;22863883;23000965;23204231;23398456;23760770;23770012;23886184;23975424;24418097;24457600;24457960;24503536;24816145;24992930;8797824;8889548;8943350;9701251;9790775 5074 F8W1M8;H0YHP5;H0YI16;Q96IZ0 ABBA01053502;ABBA01053503;ABBA01053504;ABBA01053505;AC027288;AC073569;AC073595;AF503628;AK095165;AMYH02026812;AMYH02026813;AMYH02026814;AMYH02026815;AY300794;BC007018;BC009637;CA313080;CH471054;CN280333;CR536549;NM_002583;U63809;XM_006719435;XM_006719436 AAC24947;AAH07018;AAM27453;AAP43693;CAG38786;EAW97346;EAW97347;EAW97348;EAW97349;NP_002574;Q96IZ0;XP_006719498;XP_006719499 Hs.643130 1644945;2138234 RH65933;SGC34094 PAR4;Par-4 OTTHUMP00000242764;PRKC apoptosis WT1 regulator protein;WT1-interacting protein;prostate apoptosis response 4 protein;prostate apoptosis response protein 4;prostate apoptosis response protein PAR-4;prostate apoptosis response-4;transcriptional repressor PAR4 APPROVED protein-coding ENSG00000177425 HGNC:8614 09051 601936 REVIEWED 1350216 PAX1 paired box 1 This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012] 20 20 20 p11.2 21760205 21770528 + 21686297 21699124 + 21705659 21718486 + 1580863;6480464;8699517;7240710 11423130;11780052;12477932;12504088;12774041;12833407;1358810;15489334;16207213;17764081;18849991;18849994;19080705;19453261;20442585;22693459;23851939;2501086;7909508;7981748;8863157;9671740 5075 P15863 ABBA01054108;ABBA01054109;AI167631;AK303335;AL035562;AMYH02036819;AY740018;BC069134;BC143791;BC143793;CH471133;NM_001257096;NM_006192;X15044 AAH69134;AAU21037;BAG64398;CAA33146;EAX10180;NP_001244025;NP_006183;P15863 Hs.122310 1698612;1728951 D10Bir5;RH102861 HUP48;OFC2 OTTHUMP00000030407;OTTHUMP00000206906;paired box gene 1;paired box protein Pax-1;paired domain gene HuP48 APPROVED protein-coding ENSG00000125813 HGNC:8615 01332 167411;615560 REVIEWED 1318048 PATZ1 POZ (BTB) and AT hook containing zinc finger 1 The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12.2 15522280 15542738 - 31721790 31742249 - 31325804 31346263 - 1580863;6480464 10591208;10669750;10713105;10949935;11719514;11744704;11751862;12477932;14702039;15461802;15489334;18241078;18401526;20026299;20677143;22052190;22493480;23667531;24250222;24336083;9847074 23598 Q9HBE1;Q9HD72 AB208787;ABBA01055327;AC005003;AF119256;AF242522;AF254082;AF254083;AF254084;AF254085;AK123441;AK291803;AL096880;AMYH02038235;AY028384;BC021091;BC051357;CH471095;CR456613;NM_014323;NM_032050;NM_032051;NM_032052 AAF01349;AAF32518;AAF99602;AAG09031;AAG09032;AAG09033;AAG09034;AAH21091;AAK19024;BAD92024;BAF84492;CAB51404;CAG30499;EAW59965;EAW59966;EAW59967;EAW59968;EAW59969;EAW59970;EAW59971;NP_055138;NP_114439;NP_114440;NP_114441;Q9HBE1 Hs.731398 1660780;1683872;2114592;2218672 HSC2NE092;RH26916;RH78526;ZNF278__4804 MAZR;PATZ;RIAZ;ZBTB19;ZNF278;ZSG;dJ400N23 BTB-POZ domain zinc finger transcription factor;BTB/POZ domain zinc finger transcription factor;MAZ-related factor;OTTHUMP00000199494;OTTHUMP00000199495;OTTHUMP00000199496;OTTHUMP00000199497;POZ-, AT hook-, and zinc finger-containing protein 1;POZ-AT hook-zinc finger protein;protein kinase A RI subunit alpha-associated protein;zinc finger and BTB domain-containing protein 19;zinc finger protein 278;zinc finger sarcoma gene protein APPROVED protein-coding ENSG00000100105 HGNC:13071 05522 605165 REVIEWED 1322037 PARVG parvin, gamma Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004] 22 22 22 q13.31 28482807 28516991 + 44566271 44604349 + 44172956 44208469 + 1580863;2300344;6480464;8554872 16493410 10591208;11171322;11722847;12477932;12529303;15342556;15461802;15489334;15993274;16344560;16517730;21139048;21832049;21890473;21988832;23146538;24255178;8125298 64098 B0QYM9;B0QYN0;Q9HBI0;U3KQ67 ABBA01014595;ABBA01014596;AF237772;AI075834;AK225929;AK293360;AK307294;AK307299;AK309348;AK310087;AL031595;AL355092;AL590887;AMYH02038487;AMYH02038488;BC034406;BI818662;BP299653;BP299720;BX648942;CA440742;CH471138;CR456480;DA673498;DA946316;NM_001137605;NM_022141;XM_005261702 AAG27174;AAH34406;BAG56876;CAB90188;CAC37414;CAG30366;CAK54461;CAK54760;EAW73332;EAW73333;EAW73334;EAW73335;EAW73336;NP_001131077;NP_071424;Q9HBI0;XP_005261759 Hs.658995;Hs.666944 1685802;1747579;1767123 D22S1552;G65453;RH91452 OTTHUMP00000197436;gamma-parvin APPROVED protein-coding ENSG00000138964 HGNC:14654 16285 608122 VALIDATED 1322969 PARVB parvin, beta This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 22 22 22 q13.2-q13.33 28306774 28479077 + 44395091 44565113 + 43999211 44169233 + 1580863;2300344;6480464;8554872 16493410 10591208;10810093;11171322;11402068;11722847;12372433;12477932;12499396;12529303;15005707;15159419;15284246;15342556;15467740;15489334;15835269;16314921;17353931;17998334;18325335;18976975;19885839;19924298;20139978;20164304;20345489;20379614;20736946;21139048;21295579;21483694;21625516;22719876;22869380;22939629;23099104;23382691;23455922;23535033;23535911;23950981 29780 B0QYP8;Q9HBI1 AB048276;ABBA01014590;ABBA01014591;ABBA01014592;ABBA01014593;ABBA01014594;ABBA01014595;AF151814;AF237769;AF303887;AK308443;AK309987;AK313957;AL031595;AL033543;AL035398;AL159142;AMYH02038486;AMYH02038487;BC017461;BC039811;BC046103;BG743702;BP339885;CA308417;CB044150;CH471138;KF457476;KF457484;NG_029743;NM_001003828;NM_001243385;NM_001243386;NM_013327;XM_005261593;XM_005261594;XM_005261595;XM_005261596;XM_006724236;Z82174;Z82178 AAD34051;AAG27171;AAH46103;AAL08219;BAB62077;BAG36673;CAB76900;EAW73328;EAW73329;EAW73330;EAW73331;NP_001003828;NP_001230314;NP_001230315;NP_037459;Q9HBI1;XP_005261650;XP_005261651;XP_005261652;XP_005261653;XP_006724299 Hs.475074 1341378;1685720;1748379;1748381;1753983;1781078;1784492;1789220;2157344 D22S1171;D22S1241;G65608;G65730;G65736;RH75363;SHGC-132012;SHGC-132330;stbK70A10TV CGI-56;FLJ17029 OTTHUMP00000198195;OTTHUMP00000198196;OTTHUMP00000198197;affixin;beta-parvin APPROVED protein-coding ENSG00000188677 HGNC:14653 16284 608121 REVIEWED 1313673 PAX2 paired box 2 PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor supressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 10 10 10 q24 96243249 96327456 + 102495316 102589698 + 100745711 100829941 + 1580863;2316757;2316747;727468;2316755;6480464;7240710;8554872;8699517 12057921;12444203;15149326;7937920 10533062;10908331;10938089;10980123;11093271;11134340;11168927;11241473;11461952;11700324;11730657;11826030;11940591;12141441;12200151;12697057;12970747;1337742;1378753;14561758;14566649;14603255;14627715;15502805;15561999;15652857;15808183;16368682;16385451;16400326;16436683;16509931;16609680;16735463;16814811;16971658;17269592;17357786;17513325;17529925;18000879;18056486;18379529;18439754;18609495;18685487;18941400;19048125;19118900;19228645;19401348;19467152;19517575;19525924;19556301;19851209;19959718;20061627;20061933;20301552;20301624;20358591;20413145;20631067;20670131;21108633;21263247;21380624;21575608;21696512;21730820;21836481;21876729;21880590;21934480;21989345;22080059;22138676;22169637;22213154;22274645;22473392;22495365;22552444;22660956;22683154;22727345;22807381;22984579;23135283;23137159;23194047;23196794;23202787;23328975;23503645;23539225;23686327;23756089;23765687;23861881;23890189;24040464;24141260;24334997;24344503;7795640;7819127;7856737;7981748;8241771;8431641;8589702;8661132;8760285;8889548;9106533;9132492;9178767;9297966;9439670;9738017;9760197 5076 G3V5S4;Q02962;Q5SZP1 ABBA01063217;AF515729;AL138762;AL589862;AMYH02023660;AMYH02023661;AY153483;AY153484;BM671839;CH471066;L09747;L25597;M89470;NG_008680;NM_000278;NM_003987;NM_003988;NM_003989;NM_003990;U45245;U45247;U45248;U45249;U45250;U45251;U45252;U45253;U45254;U45255 AAA36417;AAA60024;AAC41711;AAC63385;AAI41453;AAI48711;AAN77093;AAN77899;AAN77900;EAW49809;EAW49810;EAW49811;EAW49812;EAW49813;EAW49814;EAW49815;EAW49816;NP_000269;NP_003978;NP_003979;NP_003980;NP_003981;Q02962 Hs.155644 1660532;1683489;1730980;2113090 D10S2454;D10S2478;D10S278;RH80285 FSGS7;PAPRS OTTHUMP00000020286;OTTHUMP00000020287;OTTHUMP00000245031;paired box homeotic gene 2;paired box protein Pax-2 APPROVED protein-coding ENSG00000075891 HGNC:8616 01330 120330;167409;191830;616002 REVIEWED 8552828 PAUPAR PAX6 upstream antisense RNA p13 24488179 103157000 KJ434992;NR_117094 ncrna HGNC:49670 VALIDATED 1347682 PAX4 paired box 4 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008] 7 7 7 q32 122054068 122059509 - 127250346 127255982 - 127610292 127615928 - 1580863;2311633;2311632;2311634;2311635;6480464;6907045;7240710;8554872;8699517 12604352;15509590;15834548;17426099 10967107;11263967;11723072;12200761;12477932;12690205;12829700;15161765;15489334;15596543;15650323;15838687;16123375;16423628;16546275;16701883;16911636;17633464;17717051;17989064;18029348;18335054;18617287;18949370;19056482;19228875;19578796;19641380;19956100;20360641;20485196;21059099;21263211;22158537;22521316;23532257;24013263;7981748;8287686;8431641;9439631;9480859;9598721;9753306 5078 G3V4Q1;J3KPG0;O43316;Q3KNR5 AB008913;ABBA01057684;AC000359;AC073934;AF043978;AMYH02016707;BC074761;BC107149;BC107150;CH236947;CH471070;DQ442656;NG_012848;NM_006193;XM_005250397;XR_242243 AAD02289;AAH74761;AAI07150;AAI07151;ABD97848;ABZ92175;BAA24506;EAL24318;EAW83633;EAW83634;NP_006184;O43316;XP_005250454 Hs.129706 1671193;1744467;1796452 GDB:455259;PAX4;PAX4__1198 KPD;MGC129960;MODY9 OTTHUMP00000212279;OTTHUMP00000212280;OTTHUMP00000245007;paired box gene 4;paired box protein Pax-4;paired domain gene 4 APPROVED protein-coding ENSG00000106331 HGNC:8618 01333 125853;167413;612225;612227 REVIEWED 1604064 PAX7 paired box 7 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 1 1 1 p36.13 17287191 17405157 + 18957500 19075360 + 18631006 18748866 + 6480464;7240710;8699517 10871843;11601392;12039929;12234688;12477932;12647804;12865925;14702039;15184910;15527970;15688409;16710414;16830101;17285543;17474147;17613043;17662948;17954266;18066051;18788887;18988640;19097049;19142206;19453261;20333749;20351326;20467438;20677014;21321994;21421465;21954137;22089931;22197543;22374423;22863734;22952603;23079386;23205730;23247248;23463464;23512105;23669352;24084740;2501086;25025573;7527137;7902328;7981748;8012384;8104868;8431641;8789435;9339373;9731536 5081 P23759 ABBA01059738;ABBA01059739;ABBA01059740;ABBA01059741;ABBA01059742;AJ130875;AK094779;AL021528;AMYH02000413;AMYH02000414;AMYH02000415;AMYH02000416;AY578141;BC121165;BC121166;CH471134;DB474828;DQ322591;NG_023262;NM_001135254;NM_002584;NM_013945;X15042;X15251;X96743;X96744;X96745;X96746;X96747;X96748;XM_005245884;Z35141;Z64432 AAI21166;AAI21167;ABC48797;CAA65520;CAA65521;CAA65522;CAA84513;EAW94853;EAW94854;EAW94855;EAW94856;NP_001128726;NP_002575;NP_039236;P23759;XP_005245941 Hs.113253 1338577;1693222;1712530;1732916;1732994;1733170;1750073;2217694;5023438 AL033566;AU046703;D1S1324;D1S1368;D1S1473;D1S2644;PAX7_3049;SHGC-112329;SHGC-74310 FLJ37460;HUP1;PAX7B;RMS2 OTTHUMP00000002534;OTTHUMP00000223484;OTTHUMP00000223485;PAX7 transcriptional factor;paired box gene 7;paired box homeotic gene 7;paired box protein Pax-7;paired domain gene 7 APPROVED protein-coding ENSG00000009709 HGNC:8621 01331 167410;268220 REVIEWED 7367655 PAX8-AS1 PAX8 antisense RNA 1 ASSOCIATED WITH Hypothyroidism, Congenital, Nongoitrous, 2 (inferred); Thyroid Dysgenesis (inferred) 2 2 2 q13 107378417 107409147 + 113993104 114024600 + 113235527 113267023 + 8554872 12477932;14702039;16344560;8619474;9110174 654433 ABBA01074238;ABBA01074239;ABBA01074240;AC016683;AK001856;AK056052;AK056355;AK126431;AK130275;AK307781;AK310158;AL390179;AMYH02004596;AY007128;BC033562;BC036699;BC042373;BF056746;BX537688;CA416382;CH471217;DA573927;FJ695202;NG_012384;NR_015377;NR_047570 BAG51687;CAD97813;EAW73640 Hs.656660 ncrna ENSG00000189223 HGNC:49271 VALIDATED 1352156 PAX5 paired box 5 This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 9 9 9 p13 36771847 36967843 - 36833272 37034476 - 36833275 37034479 - 1580863;6480464;8554872 10022910;10197586;10455134;10524622;10524629;10533313;10748034;10811620;11134340;11460166;11779502;11781241;11799127;11877292;12054881;12153506;12221090;12453881;12524387;12609061;12612069;12731041;14594818;1516825;15385562;15492262;16518692;16541139;16680144;17050077;17102626;17344859;17431414;17476282;17529924;17535098;17626071;17635241;17682124;17717600;18192112;18343782;18415655;18604731;18617575;18643853;18718064;18829564;18957548;19020546;19139719;19145202;19368954;19549820;19586940;19587702;19616560;19641453;19725825;20023257;20118907;20160164;20197384;20233627;20379614;20435627;20534699;20882442;20972455;21043826;21156323;21217775;21299464;21319196;21357426;21424034;21480862;21549623;21552207;21606506;21707507;21710692;21765475;21813177;21962897;22013104;22105368;22127921;22309891;22449649;22578776;22593617;22927250;23090680;23163626;23321250;23329999;23616623;23678172;23737402;23842424;24013638;24078568;24569775;7981748;8431641;8650231;8943844;9486401;9742255 5079 C0KTE2;C0KTE5;C0KTF5;E7EQT0;E7ERK2;E7ERW5;E7ES87;H0YB47;Q02548 ABBA01050409;ABBA01050410;AF074913;AF080573;AF268279;AF386790;AF386791;AL161781;AL450267;AMYH02019482;AMYH02019483;AY463952;AY463953;AY463954;AY463955;AY463956;AY463957;CH471071;EF064717;FJ626406;FJ626407;FJ626408;FJ626409;FJ626410;FJ626411;FJ626412;FJ626413;FJ626414;FJ626415;FJ626416;FJ626417;FJ626418;FJ626419;FJ626420;FJ626421;FJ626422;FJ626423;FJ626424;FJ626425;M96944;NG_033894;NM_001280547;NM_001280548;NM_001280549;NM_001280550;NM_001280551;NM_001280552;NM_001280553;NM_001280554;NM_001280555;NM_001280556;NM_016734;NR_103999;NR_104000;U56835;U56836;U62539;XM_005251481 AAA58397;AAB09533;AAB16832;AAB16833;AAC35286;AAC69188;AAI56190;AAI56928;AAK25737;AAK70869;AAK70870;AAR27590;AAR27591;AAR27592;AAR27593;AAR27594;AAR27595;ABK41900;ACM91589;ACM91590;ACM91591;ACM91592;ACM91593;ACM91594;ACM91595;ACM91596;ACM91597;ACM91598;ACM91599;ACM91600;ACM91601;ACM91602;ACM91603;ACM91604;ACM91605;ACM91606;ACM91607;ACM91608;EAW58294;EAW58295;EAW58296;EAW58297;EAW58298;EAW58299;NP_001267476;NP_001267477;NP_001267478;NP_001267479;NP_001267480;NP_001267481;NP_001267482;NP_001267483;NP_001267484;NP_001267485;NP_057953;Q02548;XP_005251538 Hs.654464 1340445;1743773;1786956;1791958;1796454;2117336;2137917 D9S1968;D9S772;GDB:373099;PAX5_1027;PMC133916P3;SHGC-143721;STS-M96944 ALL3;BSAP B cell specific activator protein;B-cell lineage specific activator;B-cell-specific transcription factor;OTTHUMP00000021378;OTTHUMP00000227118;OTTHUMP00000227119;OTTHUMP00000227120;OTTHUMP00000227121;OTTHUMP00000227122;OTTHUMP00000227123;OTTHUMP00000227124;OTTHUMP00000227125;OTTHUMP00000227127;OTTHUMP00000227128;OTTHUMP00000227129;paired box homeotic gene 5;paired box protein Pax-5;paired domain gene 5;transcription factor PAX 5 APPROVED protein-coding ENSG00000196092 HGNC:8619 01334 167414;615545 REVIEWED 1352334 PAX9 paired box 9 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 9 gene is unknown but it may involve development of stratified squamous epithelia as well as various organs and skeletal elements. [provided by RefSeq, Jul 2008] 14 14 14 q13.3 16990297 17010560 + 37126773 37147012 + 36657568 36677807 + 1580863;6480464;7240710;8554872;8699517 10615120;10899593;11374781;11781684;11941488;12107448;12115874;12477932;12490878;12657635;12786960;12833407;14571272;14607846;14689302;15489334;15615874;16086281;16137495;16191360;16247549;16333316;16344560;16479262;16651263;17373667;17412341;17697174;17910065;17973255;18028048;18029348;18353002;18445003;18519826;18653171;18701815;18978678;19142206;19279207;19429910;19453261;19641755;19816326;20211142;20485064;20544801;20602873;20618716;20634891;20660504;20941745;21098475;21111400;21298044;21434731;21443745;21530942;21626677;22058014;22185249;22277187;22446453;22747565;22810112;22976623;23227268;23535729;23718693;23857653;23921572;24028587;24222224;24436340;24554542;7981748;9021154 5083 G3V233;P55771;Q2L4T1 AB248958;ABBA01061528;AJ238381;AJ238382;AJ238383;AK310339;AK313627;AL079303;AMYH02029027;AW293964;AY338688;BC001159;CH471078;DA667732;DB196800;DB233208;HM214049;HM214050;HM214053;HM214058;HM214064;HM214066;HM214076;HM214078;HM214083;HM214084;HM214086;HM214098;HM214105;HM214112;HM214113;HM214115;HM214117;L09745;NG_013357;NM_006194;U59628;X92850;XM_006720155 AAD09487;AAH01159;AAQ16120;ABW03512;ABW03825;ADR64982;ADR64983;ADR64986;ADR64991;ADR64997;ADR64999;ADR65009;ADR65011;ADR65016;ADR65017;ADR65019;ADR65031;ADR65038;ADR65045;ADR65046;ADR65048;ADR65050;BAE79273;BAG36387;CAA63436;CAB41533;EAW65853;NP_006185;P55771;XP_006720218 Hs.132576;Hs.609574 1728951 D10Bir5 STHAG3 OTTHUMP00000178877;paired box protein Pax-9;paired domain gene 9 APPROVED protein-coding ENSG00000198807 HGNC:8623 01336 167416;604625 REVIEWED 1351352 PAX3 paired box 3 This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008] 2 2 2 q35 216832726 216931738 - 223064606 223163715 - 222199887 222298996 - 1580942;1580943;1580944;1599944;1580863;6480464;7240710;8554872;8699517 12949970;15313887;15616818;8589691 10191090;10359315;10393185;10521655;10529415;10610023;10779847;10871843;10942418;11029584;11244500;11423130;11683776;11735247;11863357;11997098;12039929;12107410;12477932;12647804;12666593;12668617;12739027;1303193;1308353;1347148;1347149;1349198;14639621;15140004;15143176;15184910;1536170;1552554;15602708;15688035;15688409;15729346;16300735;16316407;16344560;16442263;16582099;16787918;16945326;16951170;16951257;16952014;16964289;16971891;17149730;17187370;17285543;17474147;17490646;17525748;17613043;17627390;17638879;17662948;17704541;17954266;17986608;18022385;18053811;18325909;18327212;18335505;18483260;18666806;18788887;18988640;19026785;19095803;19142206;19199574;19320733;19453261;19726320;19893043;19913121;19953635;20032463;20067553;20301703;20351326;20421967;20478267;20569257;20605921;20628086;20634891;20664692;20801516;21135695;21145483;21177767;21421465;21423212;21440083;21802410;21965087;21997191;22089931;22197543;22231626;22320238;22330340;22341974;22454413;22679108;22988297;23020925;23079386;23163891;23274166;23378733;23435416;23469153;23701726;23733015;23751107;23799156;23814486;23913553;23970178;24089019;24188742;24334454;24379252;24529757;24859338;2501086;2609099;2785681;6859126;7091186;7545913;7726174;7782066;7825605;7833953;7862145;7897628;7981674;8098985;8221646;8275086;8322830;8423616;8447316;8490648;8533800;8664898;8845842;8863157;9067759;9500554;9541113;9546061;9584079 5077 P23760 ABBA01023816;AC010980;AC012591;AF156931;AI382779;AI399816;AJ007392;AK291278;AMYH02005856;AMYH02005857;AY251279;AY251280;BC063547;BC101299;BC101300;BC101301;BC101302;BC114363;CA389778;CH471063;DA758804;DN989642;L07483;L10614;NG_011632;NM_000438;NM_001127366;NM_013942;NM_181457;NM_181458;NM_181459;NM_181460;NM_181461;S61511;S69369;S69370;S83614;U02309;U12258;U12259;U12260;U12261;U12262;U12263;X15043;X15253;XM_006712559 AAA03628;AAA80573;AAA80574;AAA91849;AAB21476;AAB26807;AAB30167;AAB30168;AAH63547;AAI01300;AAI01301;AAI01302;AAI01303;AAI14364;AAP13872;AAP13873;AAY14900;ABZ92174;BAF83967;CAA33145;EAW70789;EAW70790;EAW70791;EAW70792;EAW70793;EAW70794;EAW70795;EAW70796;EAW70797;NP_000429;NP_001120838;NP_039230;NP_852122;NP_852123;NP_852124;NP_852125;NP_852126;P23760;XP_006712622 Hs.42146 1334807;1654165;1688160;1719145;1741981;1744535;1745265;1745373;1745375;1797944;1856755;2183190;5125323;5494195 AFMA288WG9;D16Bir10;D2S2197;D2S2599;D3S4187;GDB:187424;GDB:512330;GDB:596326;GDB:603632;GDB:603639;PAX3_1834;RH123290;RH45698;RH92856 CDHS;HUP2;MGC120381;MGC120382;MGC120383;MGC120384;MGC134778;WS1;WS3 OTTHUMP00000164207;OTTHUMP00000164208;OTTHUMP00000164209;OTTHUMP00000202744;OTTHUMP00000202745;OTTHUMP00000202746;OTTHUMP00000205137;OTTHUMP00000224703;paired box homeotic gene 3;paired box protein Pax-3;paired domain gene 3;paired domain gene HuP2 APPROVED protein-coding ENSG00000135903 HGNC:8617 09421 122880;148820;193500;268220;606597 REVIEWED 7248133 PAXIP1-AS1 PAXIP1 antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 7 7 7 q36.2 149212297 149214567 + 154795143 154797413 + 155003433 155005703 + 8554872 12477932 202781 ABBA01015992;AC093726;AI075258;AK098428;AL713756;AMYH02017129;BC035068;BC048116;BI438440;BI545940;CH236962;NG_023293;NR_028090 Hs.193172 ncrna ENSG00000273344 HGNC:27328 VALIDATED 5128928 PAXBP1-AS1 PAXBP1 antisense RNA 1 21 21 21 19284083 19299091 + 34100425 34115433 + 32728114 32743122 + 6480464 12477932;14702039 100506215 ABBA01057320;AK056384;AMYH02037725;AP000279;BC038361;HG511732;KC877876;NR_038879;NR_038880 Hs.657123 1730855;1784418;1800246;1802070;1803820;1808012;1811926;1813724;1816538;1819110;1820270;1820472;1820538;1828134;1831636;1833944;1834106;1841862;2022430;2022432;2022434;2022436;2022438;2022440;2022442;2022444;2022446;2022448;2022450;2022452;2022454;2022456;2022458;2022460;2022462;2022464;2022466;2022468;2022470;2022472;2022474;2022476;2022478;2022480;2022482;2022484;2022486;2022488;2022490;2022492;2022494;2022496;2022498;2022500;2022502;2022504;2022506;2022508;2022510;2022512;2022514;2022516;2022518;2022520;2022522;2022524;2022526;2022528;2022530;2022532;2022534;2022536;2022538;2022540;2022542;2022544;2022546;2022548;2022550;2022552;2022554;2022556;2022558;2022560;2022562;2022564;2022566;2022568;2022570;2022572;2022574;2022576;2022578;2022580;2022582;2022584;2100228;2120366;2191553;5014051;5037552 D21S391;D8S2278;D8S2279;ECD00981;ECD01916;ECD02820;ECD04984;ECD06967;ECD07885;ECD09311;ECD10621;ECD11209;ECD11311;ECD11344;ECD15190;ECD16955;ECD18119;ECD18201;ECD22132;MARC_26190-26191:1030722126:1;REN82213;REN82214;REN82215;REN82216;REN82217;REN82218;REN82219;REN82220;REN82221;REN82222;REN82223;REN82224;REN82225;REN82226;REN82227;REN82228;REN82229;REN82230;REN82231;REN82232;REN82233;REN82234;REN82235;REN82236;REN82237;REN82238;REN82239;REN82240;REN82241;REN82242;REN82243;REN82244;REN82245;REN82246;REN82247;REN82248;REN82249;REN82250;REN82251;REN82252;REN82253;REN82254;REN82255;REN82256;REN82257;REN82258;REN82259;REN82260;REN82261;REN82262;REN82263;REN82264;REN82265;REN82266;REN82267;REN82268;REN82269;REN82270;REN82271;REN82272;REN82273;REN82274;REN82275;REN82276;REN82277;REN82278;REN82279;REN82280;REN82281;REN82282;REN82283;REN82284;REN82285;REN82286;REN82287;REN82288;REN82289;REN82290;SHGC-106898;STS-R09480;stSG606624 AP000279.69;FLJ31822;GCFC1-AS1 APPROVED ncrna ENSG00000238197 HGNC:39603 VALIDATED 7247750 PAXIP1-AS2 PAXIP1 antisense RNA 2 7 7 7 q36.2 149137384 149158357 + 154720227 154741200 + 154928517 154949490 + 12477932;14702039 100132707 A8MW02 ABBA01015993;AC093726;AK056609;AK311721;AMYH02017128;BC033053;BC050402;CA309060;CH236962;CH471149;LN608165;LN608166;LN608167;N46174;NR_024476;NR_024477 EAX04523 Hs.586358 PAXIP1-AS2;PAXIP1OS APPROVED ncrna ENSG00000214106 HGNC:48958 VALIDATED 1343545 PBCRA1 progressive bifocal chorioretinal atrophy 1 ASSOCIATED WITH Chorioretinal atrophy, progressive bifocal (inferred) 7240710 9691169;9719369 7948 1342027;7186757 D6S249;D6S283 HGNC:8625 600790 730849 PAX8 paired box 8 This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010] 2 2 2 q13 107358161 107421066 - 113973574 114036527 - 113215997 113278921 - 1580863;1600298;6480464;6907045;7240710;8554872;8699517 9590296 10377248;10924503;11134340;11232006;11502839;11923479;12161538;12441357;12477932;12519876;12699588;12727991;12970322;1337742;14531730;14623893;14702039;14970209;15062550;15355349;15356023;15362967;15489334;15494458;15718293;15961562;16029487;16179407;16219715;16344560;16352687;16613988;16763387;16814811;17064757;17437516;17468187;17614769;17980011;18029348;18084247;18632625;18670350;18724243;18768662;18829450;18974227;18976153;19010321;19525927;19730683;19797117;19963130;20157192;20195357;20211142;20302910;20379614;20414099;20463571;20470391;20492080;20513481;20572292;20607683;20634891;20667985;20718765;20851479;20857061;21263247;21289264;21317881;21328566;21552115;21602887;21606823;21663937;21689132;21763631;21836478;21836481;21838611;21932072;21934480;21979593;21988832;21989345;22037256;22135028;22261458;22293317;22388755;22495365;22644304;22666732;22705448;22797727;22807381;22898500;22961909;23163626;23194047;23196794;23202787;23218904;23308388;23328975;23436219;23453625;23503645;23550799;23612030;23738683;23787439;23811186;23958394;24037217;24086368;24225756;24334997;24340305;7737192;7856737;7981748;8125298;8413205;8431641;8861958;8889548;9388203;9590297 7849 G3V3F3;H0YJD1;H0YJZ5;Q06710;R9W7C9 ABBA01074238;ABBA01074239;ABBA01074240;ABBA01074241;AC016683;AK023855;AK096795;AK124991;AK225538;AK292191;AK307173;AK309154;AMYH02004596;AU141429;BC001060;BG398792;BM726535;CH471217;CR936798;FJ695202;KC733810;KF459610;L19606;NG_012384;NM_003466;NM_013952;NM_013953;NM_013992;S77904;S77905;S77906;X69699;X99590 AAA03539;AAB34216;AAB34217;AAB34218;AAH01060;AAX88880;ABM83206;ABM86406;AGN95866;BAF84880;CAA67903;EAW73629;EAW73630;EAW73631;EAW73632;EAW73633;EAW73634;EAW73635;EAW73636;EAW73637;EAW73638;EAW73639;NP_003457;NP_039246;NP_039247;NP_054698;Q06710 Hs.469728 1669197;1677999;1685195;1728957;1734848;1796456;2122160;2126518;2177896;2181823 D11Bir2;D2S1597E;D2S1963;PAX8__1200;RH45733;RH79182;RH80705;RH94024;SHGC-52928;WI-19770 OTTHUMP00000158659;OTTHUMP00000158660;OTTHUMP00000203723;OTTHUMP00000203724;paired box protein Pax-8;paired domain gene 8 APPROVED protein-coding ENSG00000125618 HGNC:8622 01335 167415;218700 REVIEWED 1353538 PBG1 pancreatic beta cell glycoprotein 1 5084 HGNC:8627 737459 PAX6 paired box 6 This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 11 11 11 p13 31953799 31986960 - 31806340 31839509 - 31784792 31817961 - 1358554;1601209;1601210;1601211;1580863;6480464;6907045;7240710;2308929;8552339;8552381;8552380;8552263;8552379;8552354;8551858;8551859;8552281;8551891;8552240;8551884;8551856;8551879;8552246;8552253;8552277;8552290;8552301;8552372;8552307;8551857;8551860;8551870;8554872;8699517 10376119;10441571;10564872;10954416;12721955;15161862;15629294;16080917;16303964;17849422;18507827;19034419;19124844;19345209;19862335;20664694;21203536;21589860;22171157;22393272;22509105;22550392;22815628;23213273;23297010;23734086;24114637;7668281;9138149 10234503;10346815;10359315;10506141;10610023;10747901;10955655;11036080;11069920;11309364;11350962;11358870;11756345;11850181;12043047;12107410;12107413;12324464;12325030;12477932;12552561;12710953;12731001;12789139;12868034;12923055;12953159;1302030;1345175;14702039;14872040;15066147;15079031;15086958;15143176;15389894;15489334;15659382;15677484;15735909;15757974;15889018;15918896;16098226;16115881;16303743;16344560;16407227;16511221;16543198;16582099;16604056;16637659;16675956;16712695;16785853;16803629;1684738;16873704;17031679;17148041;17202185;17251190;17291498;17318412;17415970;17417613;17485622;17568989;17595013;17653045;17679951;17893655;17896318;17898260;17901057;17908181;17947347;17948041;17982423;18029348;18070176;18241071;18243151;18273794;18332330;18334930;18393239;18421978;18440259;18467663;18593849;18595732;18616618;18754095;18766996;18776953;18973570;19142206;19218613;19414065;19607881;19650334;19651775;19686589;19790232;19793656;19806578;19806579;19898691;19907666;19917615;19948975;20054790;20074565;20301534;20301552;20308539;20360993;20379614;20396773;20413449;20467438;20523026;20577777;20592023;20621053;20713004;20801516;20806047;21084637;21092858;21169528;21271670;21321669;21348901;21353197;21397818;21421876;21524647;21617155;21633710;21655361;21691140;21697133;21710692;21816254;21850189;21904390;21922321;21935435;21944253;21948554;21985185;21988832;21997878;22025896;22103961;22146551;22171686;22344219;22361317;22392277;22393275;22447870;22561546;22583899;22621390;22809227;22860217;22893676;23044950;23146210;23211052;23660406;23931477;23942204;23970099;23990468;24078574;24143217;24185687;24290376;24390526;24454925;24505629;24623969;24637479;24802670;25030175;7065945;7550230;7666404;7698003;7757816;7909985;7951315;7958875;8111379;8162071;8364574;8640214;8889548;9056723;9147640;9281415;9482572;9538891;9792406;9856761;9931324 5080 B1B1I8;B1B1I9;B1B1J0;E9PKM0;F1T0F8;P26367;Q66SS1 AB209177;AB593092;AB593093;AB593094;ABBA01060920;ABBA01060921;ABBA01060922;AF548390;AK074881;AK094172;AK094249;AK314470;AMYH02024549;AY047583;AY307164;AY337852;AY707088;BC011953;BE221553;BI789171;BI816814;BM313099;BM557761;BM725029;BP394398;BP394576;BU072567;BX089704;BX114225;BX440968;BX640762;CA397536;CD673930;CH471064;CV569250;DA078958;DA079367;DA141443;DA183294;DQ251039;F07809;GQ141695;M77844;M93650;NG_008679;NM_000280;NM_001127612;NM_001258462;NM_001258463;NM_001258464;NM_001258465;NM_001604;S70304;S70305;S70307;XM_005252954;XM_005252955;XM_005252956;XM_005252957;XM_005252958;XM_006718244;XM_006718245;XM_006718246;Z83307;Z95332 AAA36416;AAA59962;AAB30690;AAB30691;AAB30692;AAH11953;AAK95849;AAN86817;AAP74576;AAR10412;AAU12168;ABB55263;ABM82362;ABM85538;ACZ28705;BAD92414;BAG52023;BAJ84032;BAJ84033;BAJ84034;CAE45868;EAW68233;EAW68234;EAW68235;EAW68236;NP_000271;NP_001121084;NP_001245391;NP_001245392;NP_001245393;NP_001245394;NP_001595;P26367;XP_005253011;XP_005253012;XP_005253013;XP_005253014;XP_005253015;XP_006718307;XP_006718308;XP_006718309 Hs.270303;Hs.611376 1715277;1742495;1742921;1743423;1743575;1743577;2106921;2118965;2123829;5024573;5113095;5494193 D12Bir2;GDB:197570;GDB:215731;GDB:316221;GDB:344354;GDB:344736;PAX6;RH119890;RH46063;RH78222;RH79881;UniSTS:466070 AN;AN2;D11S812E;FVH1;MGC17209;MGDA;WAGR OTTHUMP00000038833;OTTHUMP00000038834;OTTHUMP00000038835;OTTHUMP00000038836;OTTHUMP00000038837;OTTHUMP00000038838;OTTHUMP00000038839;OTTHUMP00000038840;OTTHUMP00000245002;OTTHUMP00000245003;aniridia type II protein;oculorhombin;paired box homeotic gene-6;paired box protein Pax-6 APPROVED protein-coding ENSG00000007372 HGNC:8620 06167 106210;120200;120430;136520;148190;165550;206700;604229;607108 REVIEWED 1351038 PBK PDZ binding kinase This gene encodes a serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 8 8 8 p21.2 26627008 26655180 - 27667138 27695612 - 27809621 27838095 - 1580863;6480464 10779557;10781613;11378444;11783945;12477932;12620389;14702039;14757441;15489334;15541388;15729360;15761153;15782160;16169070;16189514;16291951;16344560;17081983;17145805;17482142;17545598;17631144;18519826;19900192;19954816;20379614;20589935;20622899;20647304;21139048;21715333;21890473;21963094;22087225;22192142;22505724;22623531;22889411;22939629;22940854;23000965;23237560;23250755;23370767;23547718;23741361;24025073;24255178 55872 E5RFX4;E5RIE1;Q96KB5;V9HWH0 AB027249;AB027250;ABBA01005593;AC104997;AF189722;AF237709;AK027291;AK301836;AMYH02017676;AX477315;BC015191;BI461026;CH471080;DB028500;EU794685;NM_001278945;NM_018492;XM_006716368 AAF69107;AAF71521;AAH15191;ABM84068;ABM87426;ACJ13739;BAA99576;BAA99577;BAB55019;BAG63280;CAD43677;EAW63536;EAW63537;NP_001265874;NP_060962;Q96KB5;XP_006716431 Hs.104741 1686388;1704366 RH93231;SHGC-78182 CT84;FLJ14385;HEL164;Nori-3;SPK;TOPK MAPKK-like protein kinase;OTTHUMP00000128310;OTTHUMP00000225324;PDZ-binding kinase;T-LAK cell-originated protein kinase;cancer/testis antigen 84;epididymis luminal protein 164;lymphokine-activated killer T-cell-originated protein kinase;serine/threonine protein kinase;spermatogenesis-related protein kinase APPROVED protein-coding ENSG00000168078 HGNC:18282 17822 611210 REVIEWED 1606247 PBLD phenazine biosynthesis-like protein domain containing ENCODES a protein that exhibits catalytic activity (inferred); isomerase activity (inferred); INVOLVED IN maintenance of gastrointestinal epithelium; negative regulation of epithelial cell migration; negative regulation of epithelial cell proliferation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 10 10 10 q21.3 63317016 63367286 - 70042417 70096115 - 68282660 68332928 - 6480464;8554872 11355021;12477932;1286669;14702039;15489334;15806103;16189514;16385451;16712791;17929853;19056867;19850743;20395239;20548946;23687415;23824909 64081 P30039;V9GY00 AB049758;ABBA01019558;ABBA01019559;ABBA01019560;ABBA01019561;ABBA01019562;AC016395;AI114748;AI439144;AK027673;AK092826;AK312275;AMYH02023250;BC009738;CB121561;CH471083;NM_001033083;NM_022129;XM_005270028;XM_005270029 AAH09738;BAB16606;BAB55285;BAC03986;BAG35205;EAW54273;EAW54274;EAW54275;EAW54276;EAW54277;EAW54278;NP_001028255;NP_071412;P30039;XP_005270085;XP_005270086 Hs.198158 1339903;1667705;1680300;2162765;5022578;7186981 D10S210;D1S1423;RH46131;RH80429;WI-11387 FLJ14767;FLJ35507;MAWBP;MAWDBP MAWD binding protein;MAWD-binding protein;OTTHUMP00000019698;OTTHUMP00000082489;phenazine biosynthesis-like domain-containing protein protein-coding ENSG00000108187 HGNC:23301 14366 612189 VALIDATED 1353155 PBM1 pre-B-cell monocytic leukemia partner 1 5085 HGNC:8629 1316804 PAXIP1 PAX interacting (with transcription-activation domain) protein 1 This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008] 7 7 7 q36 149152557 149211836 - 154735400 154794682 - 154943690 155002972 - 6480464;9479053 22663077 10908331;11940591;12477932;12588986;14576432;14702039;15231748;15456759;16159877;16189514;17178841;17500065;17690115;17761849;17925232;18353733;19047629;19124460;19322201;19414588;19583951;20301340;20379614;20516061;20670891;21163940;22064073;22242598;22736030;22939629;22990118;24250222;24368734;24486544;9225980;9847074 22976 F8WC23;H7BZI8;Q6ZW49 ABBA01015993;AC093726;AK093584;AK123044;AK123600;AK126674;AK293744;AK307417;AMYH02017128;BC008328;BC033781;BQ222021;BX538201;BX640616;CH236962;CH471149;CR993144;NG_023293;NM_007349;U80735;XM_005249536;XM_005249537;XM_005249539;XM_005249541 AAB91434;AAH08328;AAH33781;AAP21865;BAC85523;BAC85657;BAG54355;BAG57167;CAD98066;CAE45762;EAX04524;EAX04525;NP_031375;Q6ZW49;XP_005249593;XP_005249594;XP_005249596;XP_005249598 Hs.443881 1653652;1663414;1666887;1670590;1697062;1700802;1722583;1768205;1857807;2114449;2158456;2162674;2175958;2219460;5022651;5122886 AFMB058WE5;D11S2921;D7S2896;G15998;G19213;G60373;GDB:1317416;PAXIP1L__5830;RH102010;RH104026;RH45010;RH48948;SHGC-36464;SHGC-52442;STS-N51347;WI-18169 CAGF28;CAGF29;FLJ41049;PACIP1;PAXIP1L;PTIP;TNRC2 OTTHUMP00000199835;PAX transactivation activation domain-interacting protein;PAX transcription activation domain interacting protein 1 like;PAX-interacting protein 1;protein encoded by CAG trinucleotide repeats APPROVED protein-coding ENSG00000157212 HGNC:8624 08491 608254 REVIEWED 1343781 PBT piebald trait ASSOCIATED WITH Gastrointestinal Stromal Tumors (inferred); Leukemia, Myeloid, Acute (inferred); Mastocytosis (inferred) 7240710 5086 HGNC:8631 154800;172800;273300;601626;606764 1344013 PBDC1 polysaccharide biosynthesis domain containing 1 INTERACTS WITH (+)-catechin; benzene; benzo[a]pyrene diol epoxide I X X X q13.3 75672493 75677756 + 75392771 75398033 + 76172936 76178314 + 737633;6480464 12477932 11042152;15489334;15790807;16169070;17207965;18029348;19615732;21139048;21145461;22053931;22863883;23000965 51260 A6NDF3;Q9BVG4 ABBA01059364;AC004677;AC233281;AI919559;AMYH02039797;AY927616;BC001220;BC051894;BM817702;CD704296;CH471104;CS072317;DB536944;NM_001300888;NM_016500;XM_005262274 AAH01220;AAH51894;ADQ32506;CAI93455;EAW98621;EAW98622;EAW98623;EAW98624;NP_001287817;NP_057584;Q9BVG4;XP_005262331 Hs.370100 CXorf26;MGC874 2610029G23Rik;OTTHUMP00000023585;OTTHUMP00000023586;UPF0368 protein Cxorf26;hypothetical protein LOC51260;polysaccharide biosynthesis domain-containing protein 1 APPROVED protein-coding ENSG00000102390 HGNC:28790 06659 VALIDATED 1349399 PBX2P1 pre-B-cell leukemia homeobox 2 pseudogene 1 3 3 3 q24 141318300 141321491 + 142894904 142898095 + 143176062 143179253 + 1682799;7759099;7835890 5088 ABBA01059015;AC018450;AMYH02007827;NG_002434 1683966;1745455;1745457;1745459;2160329;2218580 D3S4540;GDB:607721;GDB:607725;GDB:607728;PBX2_2038;RH46823 PBX2;PBXP1 pseudo HGNC:8635 INFERRED 1350680 PBX2 pre-B-cell leukemia homeobox 2 This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33719557 33725007 - 32152510 32157963 - 32184733 32190186 - 1580863;6480464 10082572;11438208;12054735;12477932;12609849;12871956;14574404;14656967;14667819;15489334;16344560;1682799;17207965;18973687;19322201;19356220;19659809;19851445;19913121;20126986;20416077;20587610;20628086;21804548;22374608;23042114;23266558;23400877;23535732;23667531;7759099;7835890;7910944;8661110;9482739 5089 P40425 ABBA01038108;AL662830;AL662884;AL845464;AMYH02013469;BC003111;BC082261;BQ182713;BT009823;BX284686;BX927239;CH471081;CR812478;CR933878;D28769;DB162975;NM_002586;U89336;X59842;X80700 AAB47490;AAH82261;AAP88825;ADQ32061;BAA05957;CAA42503;CAA56717;EAX03613;EAX03622;NP_002577;P40425 Hs.509545;Hs.718462 1655194;1683966;1745455;1745457;1745459;1778456;2106231;2115023;2160329;2218580 D3S4540;D6S2895;GDB:607721;GDB:607725;GDB:607728;PBX2_2038;RH46756;RH46823;WI-14626;WI-7619 G17;HOX12;PBX2MHC OTTHUMP00000029151;homeobox 12;homeobox protein PBX2;pre-B-cell leukemia transcription factor 2 APPROVED protein-coding ENSG00000204304 HGNC:8633 08890 176311 REVIEWED 1353290 PAXBP1 PAX3 and PAX7 binding protein 1 This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009] 21 21 21 q21.3 19289868 19327826 - 34106210 34144169 - 32733899 32771858 - 6480464 10773462;11042152;11707072;12477932;14702039;15302935;16344560;16780588;17081983;19471022;20360068;20494980;20811636;21551269;21890473;22174317;22862948;23752268;24457600;24816145 94104 H7BZC8;H7C2W4;Q8N6E6;Q9Y5B6 ABBA01057320;AF153208;AF208862;AF231920;AJ279080;AJ279081;AK075042;AK093291;AK128513;AK309404;AL706425;AMYH02037725;AP000279;AP000280;AY033903;AY033904;AY033905;AY033906;BC005213;BC030539;BC062992;BC084542;CD557070;CH471079;DB031308;KF457217;NM_013329;NM_016631;NR_027873;XM_006724066;XM_006724067 AAD34617;AAF64276;AAF72944;AAH30539;AAH84542;AAI56215;AAK68721;AAK68722;AAK68723;AAK68724;ABM82550;ABM85741;BAC11369;BAG52682;BAG54687;CAC40813;CAC40814;EAX09857;EAX09858;EAX09859;EAX09860;EAX09861;NP_037461;NP_057715;Q9Y5B6;XP_006724129;XP_006724130 Hs.644004 1672400;1772371;1784418;1798398;1799968;1800968;1805708;1808798;1809070;1809306;1809554;1811214;1812566;1812734;1813006;1813078;1813724;1814184;1817544;1818286;1818362;1819110;1819568;1819838;1820270;1822882;1826312;1827032;1827464;1828134;1830282;1831552;1831636;1833944;1834106;1836814;1837758;1840578;1841862;1842864;1842908;1844584;1845746;1845840;2022494;2022496;2022498;2022500;2022502;2022504;2022506;2022508;2022510;2022512;2022514;2022516;2022518;2022520;2022522;2022524;2022526;2022528;2022530;2022532;2022534;2022536;2022538;2022540;2022542;2022544;2022546;2022548;2022550;2022552;2022554;2022556;2022558;2022560;2022562;2022564;2022566;2022568;2022570;2022572;2022574;2022576;2022578;2022580;2022582;2022584;2022586;2022588;2022590;2022592;2022594;2022596;2022598;2022600;2022602;2022604;2022606;2022608;2022610;2022612;2022614;2022616;2022618;2022620;2022622;2022624;2022626;2022628;2022630;2022632;2022634;2022636;2022638;2022640;2022642;2022644;2022646;2022648;2022650;2022652;2022654;2022656;2022658;2022660;2022662;2022664;2022666;2022668;2022670;2022672;2022674;2022676;2022678;2022680;2022682;2022684;2022686;2022688;2022690;2022692;2022694;2022696;2022698;2022700;2022702;2022704;2022706;2022708;2022710;2022712;2022714;2022716;2022718;2022720;2022722;2022724;2022726;2022728;2022730;2022732;2022734;2022736;2022738;2022740;2022742;2022744;2022746;2022748;2022750;2022752;2022754;2022756;2022758;2022760;2022762;2022764;2022766;2022768;2022770;2022772;2022774;2022776;2022778;2022780;2022782;2022784;2022786;2022788;2022790;2022792;2022794;2022796;2022798;2022800;2022802;2022804;2022806;2022808;2022810;2022812;2022814;2022816;2022818;2022820;2022822;2022824;2022826;2022828;2022830;2022832;2022834;2022836;2022838;2022840;2022842;2022844;2100236;2100238;2100240;2100242;2100244;2100246;2100248;2100250;2100252;2100254;2100256;2100258;2100260;2100262;2100264;2100266;2100268;2100270;2100272;2100274;2100276;2100278;2100280;2100282;2100284;2100286;2100288;2100290;2100292;2100294;2100296;2112684;2120366;2126667;2191553 D21S1848;D3S4402;ECD00035;ECD00838;ECD01349;ECD03804;ECD05382;ECD05522;ECD05643;ECD05769;ECD06605;ECD07293;ECD07378;ECD07517;ECD07558;ECD07885;ECD08121;ECD09822;ECD10200;ECD10238;ECD10621;ECD10851;ECD10989;ECD11209;ECD12529;ECD14269;ECD14631;ECD14848;ECD15190;ECD16275;ECD16913;ECD16955;ECD18119;ECD18201;ECD19571;ECD20049;ECD21476;ECD22132;ECD22639;ECD22662;ECD23506;ECD24092;ECD24139;MARC_26190-26191:1030722126:1;REN82245;REN82246;REN82247;REN82248;REN82249;REN82250;REN82251;REN82252;REN82253;REN82254;REN82255;REN82256;REN82257;REN82258;REN82259;REN82260;REN82261;REN82262;REN82263;REN82264;REN82265;REN82266;REN82267;REN82268;REN82269;REN82270;REN82271;REN82272;REN82273;REN82274;REN82275;REN82276;REN82277;REN82278;REN82279;REN82280;REN82281;REN82282;REN82283;REN82284;REN82285;REN82286;REN82287;REN82288;REN82289;REN82290;REN82291;REN82292;REN82293;REN82294;REN82295;REN82296;REN82297;REN82298;REN82299;REN82300;REN82301;REN82302;REN82303;REN82304;REN82305;REN82306;REN82307;REN82308;REN82309;REN82310;REN82311;REN82312;REN82313;REN82314;REN82315;REN82316;REN82317;REN82318;REN82319;REN82320;REN82321;REN82322;REN82323;REN82324;REN82325;REN82326;REN82327;REN82328;REN82329;REN82330;REN82331;REN82332;REN82333;REN82334;REN82335;REN82336;REN82337;REN82338;REN82339;REN82340;REN82341;REN82342;REN82343;REN82344;REN82345;REN82346;REN82347;REN82348;REN82349;REN82350;REN82351;REN82352;REN82353;REN82354;REN82355;REN82356;REN82357;REN82358;REN82359;REN82360;REN82361;REN82362;REN82363;REN82364;REN82365;REN82366;REN82367;REN82368;REN82369;REN82370;REN82371;REN82372;REN82373;REN82374;REN82375;REN82376;REN82377;REN82378;REN82379;REN82380;REN82381;REN82382;REN82383;REN82384;REN82385;REN82386;REN82387;REN82388;REN82389;REN82390;REN82391;REN82392;REN82393;REN82394;REN82395;REN82396;REN82397;REN82398;REN82399;REN82400;REN82401;REN82402;REN82403;REN82404;REN82405;REN82406;REN82407;REN82408;REN82409;REN82410;REN82411;REN82412;REN82413;REN82414;REN82415;REN82416;REN82417;REN82418;REN82419;REN82420;SHGC-106898;SHGC-58185;STS-R09480;UniSTS:494425;stSG606628;stSG606629;stSG606630;stSG606631;stSG606632;stSG606633;stSG606634;stSG606635;stSG606636;stSG606637;stSG606638;stSG606639;stSG606640;stSG606641;stSG606642;stSG606643;stSG606644;stSG606645;stSG606646;stSG606647;stSG606648;stSG606649;stSG606650;stSG606651;stSG606652;stSG606653;stSG606654;stSG606655;stSG606656;stSG606657;stSG606659 BM020;C21orf66;FLJ90561;FSAP105;GCFC;GCFC1 GC-rich sequence DNA-binding factor 1;GC-rich sequence DNA-binding factor candidate;GC-rich sequence DNA-binding factor homolog;OTTHUMP00000067485;OTTHUMP00000197869;OTTHUMP00000210638;PAX3- and PAX7-binding protein 1;functional spliceosome-associated protein 105 APPROVED protein-coding ENSG00000159086 HGNC:13579 10761 REVIEWED 1346457 PBOV1 prostate and breast cancer overexpressed 1 This intronless gene encodes a protein of unknown function. Its expression is up-regulated in some types of cancer, including prostate, breast, and bladder cancer. [provided by RefSeq, Aug 2011] 6 6 6 q23.3 139277240 139279744 - 138537123 138539627 - 138215986 138218490 - 1580863 11156405;12477932;12553037;14574404;15489334;17656261;19714462;23418531 59351 Q9GZY1 ABBA01025810;AF189269;AF189270;AL031433;AMYH02014577;BC069109;CH471051;NG_029816;NM_021635 AAG17117;AAG17118;AAH69109;EAW47919;NP_067648;Q9GZY1 Hs.302016 5015861;5024756;5493971;7185938 D10S16;RH80030;UniSTS:480588 UC28;UROC28;dJ171N11.2 OTTHUMP00000234869;prostate and breast cancer overexpressed gene 1 protein APPROVED protein-coding ENSG00000254440 HGNC:21079 16137 605669 REVIEWED 1345476 PBX4 pre-B-cell leukemia homeobox 4 This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011] 19 19 19 p12 19576585 19633514 - 19672516 19729725 - 19561707 19618916 - 1580863;6480464 11335119;12477932;14702039;15489334;18033668;18193044;18987386;19060906;20679960;20686565;22185299;22208664;23251661;23974872;8889548 80714 H0YL59;Q9BYU1 ABBA01051335;ABBA01051336;ABBA01051337;AC002306;AC011448;AJ300182;AK097427;AK301631;AMYH02035759;AMYH02035760;BC033067;BC141859;BC143588;BC143589;BG683004;CH471106;CK300861;NM_025245;NR_038198;XM_006722910;XM_006722911;XM_006722912 AAI41860;AAI43093;BAG53471;BAH13525;CAC28212;EAW84834;EAW84835;NP_079521;Q9BYU1;XP_006722973;XP_006722974;XP_006722975 Hs.466257 2142099;2217696 PBX4_2885;SHGC-58358 homeobox protein PBX4;pre-B-cell leukemia transcription factor 4 APPROVED protein-coding ENSG00000105717 HGNC:13403 16287 608127 REVIEWED 1316248 PBX3 pre-B-cell leukemia homeobox 3 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN adult locomotory behavior (inferred); anterior compartment pattern formation (inferred); dorsal spinal cord development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); transcription factor complex (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; 5-fluorouracil 9 9 9 q33.3 99158741 99384104 + 128509617 128729656 + 125747338 125967377 + 1580863;6480464;8554872 10082572;11438208;11571641;12107413;12477932;14702039;15146197;15164053;15466398;15489334;16189514;1682799;18029348;19060904;19626039;19913121;20211142;20583170;20628086;21548940;22251480;22426282;23161775;23264595;23539541;24009623;24375258 5090 B7Z5Q0;H0Y5D0;H3BLX0;P40426;Q5JS98;Q96AL5;U3KQA2 ABBA01043794;ABBA01043795;ABBA01043796;ABBA01043797;ABBA01043798;ABBA01043799;ABBA01043800;ABBA01043801;AF355141;AF355142;AI479638;AJ420602;AK092148;AK289376;AK297093;AK299267;AK309713;AK312717;AL358074;AL445186;AL627303;AMYH02021656;AMYH02021657;BC016977;BC094883;CD675622;CH471090;CN372830;CN372832;KF458944;NM_001134778;NM_006195;NR_024122;NR_024123;X59841;XM_006717130;XM_006717131;XM_006717132;XM_006717133 AAH16977;AAH94883;AAL09477;AAL09478;BAF82065;BAH12495;BAH12986;CAA42502;EAW87635;EAW87636;EAW87637;EAW87638;NP_001128250;NP_006186;P40426;XP_006717193;XP_006717194;XP_006717195;XP_006717196 Hs.428027 1644058;1674326;1724083;1797948;1856231;2119319;2134081;2149134;2157152;2163156;2164057;2187176;5093660;5093816 A009U31;A009X15;G07093;G32849;G32940;PBX3_2144;RH118782;RH45491;RH69772;SGC30847;SHGC-30429;SHGC-33994;STS-H74197;WI-16961 OTTHUMP00000022145;OTTHUMP00000022146;OTTHUMP00000022148;homeobox protein PBX3;pre-B-cell leukemia transcription factor 3 protein-coding ENSG00000167081 HGNC:8634 15938 176312 VALIDATED 1317860 PBX1 pre-B-cell leukemia homeobox 1 This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis, and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 1 1 1 q23 137634090 137926324 + 164528597 164821067 + 164559360 164851830 + 1580863;6480464;8699517;7240710;8554872 10052460;10082572;10373562;10471746;10500199;10523646;11046157;11069920;11267683;11279116;11571641;11585930;11834421;11912494;12145285;12477932;12487626;12609849;12724421;12923056;14512427;14536079;14701856;14702039;15138251;15161102;15489334;15507449;15684392;15770739;15870273;15979049;16140554;16215946;16328158;16344560;16637071;16710414;1671560;16769578;1682799;16914730;17131398;17200190;18029348;18093541;18312624;18455790;18973687;18974129;18984668;19064610;19322201;19346496;19522013;19536175;19559479;19664597;1967982;1967983;19767769;19782160;19799567;19913121;20195544;20211142;20237320;20379614;20628086;20966902;21087615;21575942;21746878;21957483;22125492;22180614;22567123;22939629;23044487;23088713;23319801;23444221;23511488;23688269;7729685;7910944;8327485;8657138;9482739;9482740 5087 A8K5V0;B7Z774;F8WA05;H0YKH1;H0YLB0;H0YLD4;H0YLF5;H0YLM3;H0YLT4;P40424;Q53YC7;S4R377 ABBA01047285;ABBA01047286;ABBA01047287;ABBA01047288;AF313404;AK022520;AK022962;AK291415;AK299673;AK301540;AL049381;AL357568;AL359255;AL390119;AL391001;AMYH02002059;AMYH02002060;AMYH02002061;AMYH02002062;AMYH02002063;BC044624;BC101578;BC143435;BC143451;BT006705;BX647313;CH471067;CR749446;DA483403;DA492007;DA760179;DA770191;DB270853;DB289928;KF455050;M31170;M86546;NG_028246;NM_001204961;NM_001204963;NM_002585;XM_005245228;XM_005245229;XM_005245230;XM_006711347 AAA36484;AAA60031;AAG30941;AAI01579;AAP35351;BAF84104;BAG61583;BAH13510;CAH18284;EAW90738;EAW90739;EAW90740;EAW90741;NP_001191890;NP_001191892;NP_002576;P40424;XP_005245285;XP_005245286;XP_005245287;XP_006711410 Hs.557097 1645859;1650050;1673092;1685774;1687315;1687443;1691920;1692626;1698484;1699872;1705426;1708240;1710624;1715201;1733706;1733736;1739999;1757361;1764963;1771258;1775866;1776227;1797946;1850217;1855602;2116974;2130457;2151400;2158463;2158954;2161883;2174432;2182816;5119260;5123171 1564;A003N37;A007I06;AL033591;AL034071;D13S1219;D1S1548;D1S1576;D1S1716;D1S1720;D1S2454;D1S2505E;G15916;PBX1_2674;RH102792;RH103544;RH119851;RH26827;RH36084;RH36292;RH48390;RH64526;RH68666;RH75790;RH92739;RH94226;SHGC-144759;SHGC-148519;SHGC-36037;SHGC-79383;SHGC-83793;SHGC-84103;WI-16891;WI-17626;WI-22552 DKFZp686B09108;MGC126627 OTTHUMP00000032205;OTTHUMP00000032206;Pre-B cell leukemia transcription factor-1;homeobox protein PBX1;homeobox protein PRL;pre-B-cell leukemia transcription factor 1 APPROVED protein-coding ENSG00000185630 HGNC:8632 08889 176310 REVIEWED 1313054 PBXIP1 pre-B-cell leukemia homeobox interacting protein 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN microtubule (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; cobalt dichloride 1 1 1 q21.3 127987581 127999592 - 154916553 154928624 - 154944080 154956091 - 1580863;6480464;8554872 10825160;12360403;12477932;14702039;16189514;16713569;17043237;18029348;18624398;18781797;19060904;19616115;20211142;21906983;21987572;21988832;22187427;23535732;24038948;24457600;24654937;24816145;7505766 57326 B4E1J0;F2Z2Z8;Q5T173;Q96AQ6 ABBA01016724;ABBA01016725;AF221521;AK022497;AK023219;AK300544;AK300987;AK303413;AK303863;AK310388;AK310712;AK315551;AL451085;AMYH02001935;BC016852;CH471121;NM_020524;U00952 AAG02026;AAH16852;ABZ92129;BAB14059;BAB14471;BAG62252;BAG62606;BAG64466;BAG64802;EAW53174;EAW53175;EAW53176;NP_065385;Q96AQ6 Hs.505806 1652070;2108341;2110689;2146861;2171928;2177247 A002B11;Cda0tg01;PBXIP1_8075;PYGO2_8120;RH15903;STS-W05360 HPIP OTTHUMP00000035484;OTTHUMP00000035485;OTTHUMP00000035486;OTTHUMP00000035487;hematopoietic PBX-interacting protein;pre-B-cell leukemia transcription factor interacting protein 1;pre-B-cell leukemia transcription factor-interacting protein 1 protein-coding ENSG00000163346 HGNC:21199 17823 PROVISIONAL 1347827 PCANAP2 prostate cancer associated protein 2 61503 10613842 50629 AF109299 Hs.278695 IPCA-2 protein-coding HGNC:8640 1605656 PBRM1 polybromo 1 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] 3 3 3 p21 52558739 52698578 - 52579368 52719866 - 52545352 52685850 - 6480464;6907133;6907137;8694154;9495920;9479075 21358755;21654818;22035299;23355908;24686119 11078522;11483580;11591653;11780067;12368262;12477932;12487023;12672490;14702039;15231748;15735765;15985610;16094384;16344560;16934469;16964243;17081983;17320048;18191465;18339845;19454010;19471022;19596686;19650111;20081856;20130577;20305087;20360068;20368734;20379614;20660729;21037240;21139048;21248752;21252943;21549307;21604427;21693764;21832049;21890473;21906983;21926972;22140357;22479202;22505724;22573740;22586326;22751105;22763110;22939629;22949125;23000965;23022380;23092984;23333114;23443559;23644518;23867514;23974872;24029645;24053427;24163370;24166983;24185509;24457600;24816145;25027693;8889549 55193 C9J053;C9J409;C9J9L6;C9JCJ2;C9JPI5;C9JQF1;E7EVG2;H0Y5B5;Q86U86 AA047886;ABBA01024500;ABBA01024501;ABBA01024502;ABBA01024503;ABBA01024504;ABBA01024505;AC104446;AC112215;AF177387;AF197569;AF225870;AF225871;AF225872;AK001507;AK001926;AK056541;AL050083;AMYH02006806;AMYH02006807;AMYH02006808;AMYH02006809;AMYH02006810;AMYH02006811;AMYH02006812;AY281068;BC015323;BC070273;BC089409;BC115009;BC115010;BC115011;BC116450;BC129934;BC129935;BE672944;BG778619;BU171600;BU619411;CA438315;CH471055;CV573455;DA039085;NG_032108;NM_018313;XM_005265275;XM_005265279;XM_005265280;XM_005265282;XM_005265283;XM_005265288;XM_006713220;XM_006713221;XM_006713222;XM_006713223;XM_006713224;XM_006713225;XM_006713226;XM_006713227;XM_006713228;XM_006713229;XM_006713230;XM_006713231;XM_006713232;XM_006713233;XM_006713234 AAG34760;AAG48933;AAG48939;AAG48940;AAG48941;AAH15323;AAH70273;AAH89409;AAI15010;AAI15011;AAI15012;AAI29935;AAI29936;AAP34197;BAA91728;BAA91982;BAB71210;EAW65239;EAW65240;EAW65241;EAW65242;EAW65243;EAW65244;EAW65245;EAW65246;EAW65247;EAW65248;NP_060783;Q86U86;XP_005265332;XP_005265336;XP_005265337;XP_005265339;XP_005265340;XP_005265345;XP_006713283;XP_006713284;XP_006713285;XP_006713286;XP_006713287;XP_006713288;XP_006713289;XP_006713290;XP_006713291;XP_006713292;XP_006713293;XP_006713294;XP_006713295;XP_006713296;XP_006713297 Hs.189920 1655743;1684204;1699040;1700938;1721959;1760795;1771317;1850400;2114575;2117970;2119591;2123090;2142998;2143000;2170012;2174085;2186647;5015961;5016478;5019825;5022322;5022425;5037552;5109281 A009Y43;D11S2560;D15S1477;D1S1425;D22S296;D3S3129;D3S3148;D3S3494;D3S4210;D8S2279;G06257;G32996;G59865;GDB:434012;HSC07B112;RH103093;RH104096;RH16658;RH46499;RH92627;SHGC-144314;STS-H79538;STS-N26209;WI-17173 BAF180;MGC156155;MGC156156;PB1;hPB1 BRG1-associated factor 180;OTTHUMP00000202147;OTTHUMP00000202148;OTTHUMP00000202149;OTTHUMP00000202150;OTTHUMP00000202151;OTTHUMP00000202152;OTTHUMP00000202153;OTTHUMP00000202154;OTTHUMP00000202155;OTTHUMP00000202163;polybromo-1D;protein polybromo-1 APPROVED protein-coding ENSG00000163939 HGNC:30064 606083 REVIEWED 1349133 PCANAP7 prostate cancer associated protein 7 61503 10613842 AF109302 HGNC:8643 1354136 PCANAP8 prostate cancer associated protein 8 61503 10613842 50633 AF109303 Hs.278695 IPCA-8 protein-coding HGNC:8644 1343740 PCAP predisposing for prostate cancer ASSOCIATED WITH Prostate Cancer, Hereditary, 8 (inferred); Prostatic Neoplasms (inferred) 7240710 9585607 7834 1341810 D1S2842 2293374;2299878;2299881 PRSTS278_H;PRSTS315_H;PRSTS316_H HGNC:8645 176807;602759 5508230 PCAT1 prostate cancer associated transcript 1 (non-protein coding) 8 8 q24.21 128025399 128033259 + 127013154 127021014 + 21804560;23640607;24473064 100750225 ABBA01037940;AC067843;AMYH02018750;HQ605084;NR_045262 Hs.571530 PCA1;PCAT-1 ncrna ENSG00000253438 HGNC:43022 616043 PROVISIONAL 7255311 PCAT14 prostate cancer associated transcript 14 (non-protein coding) 22 q11.23 23538102 23547306 + 21804560 101978785 ABBA01055114;ABBA01055115;AMYH02038130;AP000345;BG248682;HQ605085;NR_109832 Hs.575107 ncrna HGNC:48977 VALIDATED 7849120 PCAT18 prostate cancer associated transcript 18 (non-protein coding) 18 18 18 q11.2 21078200 21094222 - 24267585 24283602 - 26687621 26703638 - 11181995;14702039;24519926 728606 ABBA01022569;AC012588;AK056805;AMYH02034458;CH471088;NR_024259 EAX01221 Hs.170599 LINC01092 ncrna ENSG00000265369 HGNC:49211 VALIDATED 2302688 PCAT4 prostate cancer associated transcript 4 (non-protein coding) 4 4 4 q21.1 78082224 78084181 + 80748625 80784401 + 79827471 79863247 + 11536302;11917942;12477932;14702039;15299187;17468839;18188713;18454873 118425 ABBA01063396;ABBA01063397;ABBA01063398;ABBA01063399;AC118141;AF388200;AF462307;AK056825;AMYH02009556;BC125139;CH471057;KF457780;NR_026555 AAK83352;ABM84134;ABM87535;EAX05846;EAX05847 Hs.104215 1338152;1650642;1716815;1851518;2115916;2115918 D4S2964;D4S319;RH122215;SHGC-50471;SHGC-51578;WI-2879 GDEP;PCA4;PCAN1 APPROVED ncrna ENSG00000251321 HGNC:24853 17035 609717 VALIDATED 5687782 PCAT6 prostate cancer associated transcript 6 (non-protein coding) 1 1 1 175909294 175910260 + 202780074 202781041 + 202810946 202811913 + 20887892;23728290 100506696 ABBA01027495;AC098934;AMYH02002504;NR_046325;NR_046326 Hs.23459 KDM5B-AS1;PCAN-R1;ncRNA-a2 APPROVED ncrna ENSG00000228288 HGNC:43714 VALIDATED 8695269 PCAT7 prostate cancer associated transcript 7 (non-protein coding) 9 9 q22.32 97317351 97331038 + 94555069 94568756 + 14702039;23728290 101928099 ABBA01043640;AK123066;AL161728;AMYH02021258;BC042913;BI196098;CF146916;HG502256;HY050400;NR_121566;NR_121567;NR_121568;NR_121569;XR_242648;XR_250511;XR_252616 Hs.674409 PCAN-R2 ncrna HGNC:48824 VALIDATED 1604063 PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 10 10 10 q22 65925552 65930826 - 72642037 72648541 - 70882280 70888784 - 6480464;8554872;8699517 10098606;10727395;11461190;11668623;11937441;11980910;12477932;12565907;15489334;15740590;16189514;16385451;16423549;17353931;1763325;18029348;19056867;19491146;19674121;20195357;20211142;20532202;21047120;21139048;21145461;21890473;21988832;22053931;22623531;23000965;23251661;24204001;7763270;8188266;8352282;8444860;8486378;8504250;8618906;8682201;8889548;9092652;9391049;9585615;9760199 5092 P61457;Q6LEE2 AA397961;AA736613;ABBA01019635;AC073176;AF082858;AMYH02023296;BC006324;BI548743;BM724638;BQ685076;BQ897536;CH471083;CR542194;L15410;L15427;L15428;L41559;L41560;M83742;NG_008646;NM_000281;NM_001289797;XM_005269877 AAA35670;AAA35671;AAA35672;AAA69662;AAA69663;AAD25732;AAH06324;CAG46991;EAW54416;EAW54417;NP_000272;NP_001276726;P61457;XP_005269934 Hs.3192 1725659;1776541;2108343;2184365;7186931 G62038;PCBD_8522;RH78920;STS-L41559 DCOH;PCBD;PCD;PHS 4-alpha-hydroxy-tetrahydropterin dehydratase;6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1);OTTHUMP00000019765;dimerization cofactor of HNF1;dimerizing cofactor for HNF1;phenylalanine hydroxylase-stimulating protein;pterin-4-alpha-carbinolamine dehydratase APPROVED protein-coding ENSG00000166228 HGNC:8646 00523 126090 REVIEWED 1347053 PCA3 prostate cancer associated 3 (non-protein coding) 9 9 9 q21.2 49954199 49977305 + 79379354 79402838 + 76764438 76787549 + 10606244;12680228;12814669;14607216;15067329;18061575;18602209;18684556;18707724;19319183;19424173;19489685;19708043;19760627;20114043;20332487;20424427;20637539;20933321;20947244;20980098;21093148;21600799;21600800;21655300;21761426;21883822;22042252;22199313;22245323;22288776;22674214;22687565;22782916;22868485;22967466;23130941;23213079;23223645;23391636;23416644;23523291;24123045;25043536 50652 ABBA01033913;AF103907;AF103908;AL359314;AL390239;AMYH02021024;AMYH02021025;AY894120;DQ374660;HG502144;NR_015342 Hs.663766 1695808;1716251 RH121153;SHGC-82569 DD3;NCRNA00019;PCAT3 APPROVED ncrna ENSG00000225937 HGNC:8637 604845 PROVISIONAL 1353306 PCBD2 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 ENCODES a protein that exhibits 4-alpha-hydroxytetrahydrobiopterin dehydratase activity (inferred); phenylalanine 4-monooxygenase activity (inferred); INVOLVED IN positive regulation of transcription, DNA-templated; FOUND IN mitochondrion (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; N-acetyl-1,4-benzoquinone imine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 5 5 5 q31.1 130369123 130422077 + 134240810 134298336 + 134905120 134962646 + 6480464 11230166;11591653;11980910;12477932;12646162;15182178;15489334;15546961;17353931;18391951;20211142;20877624;21832049;22751105;23263487;23568457;8889548 84105 H0YA52;Q9H0N5 ABBA01068730;ABBA01068731;ABBA01068732;ABBA01068733;ABBA01068734;AC006077;AC008670;AF499009;AK098495;AL136721;AMYH02012253;BC054021;BU730195;CH471062;NM_032151 AAH54021;AAM18136;ACE86859;ACE87547;CAB66655;EAW62229;NP_115527;Q9H0N5 Hs.710014 1339827;1647201;1653984;1735490;1773308;2126389;2134269;5015404;5015861;5016478;5022578;5022651;5023543;5024413;5037552;5094680;5094684;7185938 A007G12;D10S16;D11S2921;D1S1423;D5S1608E;D5S2056;D8S2279;GDB:434012;L17705;L17877;PMC55343P10;PMC55343P12;PMC55343P9;RH44701;RH69300;SGC33588;WI-11839 DCOH2;DCOHM;PHS 2;PHS2 4-alpha-hydroxy-tetrahydropterin dehydratase 2;6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2;DcoH-like protein DCoHm;HNF-1-alpha dimerization cofactor;OTTHUMP00000223129;OTTHUMP00000223130;OTTHUMP00000223131;dimerization cofactor of hepatocyte nuclear factor 1 (HNF1) from muscle;dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1);dimerization cofactor of hepatocyte nuclear factor 1 from muscle;pterin-4 alpha-carbinolamine dehydratase 2;pterin-4-alpha-carbinolamine dehydratase 2 protein-coding HGNC:24474 17824 609836 VALIDATED 733418 PC pyruvate carboxylase This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.4-q13.5 63944403 64054124 - 66615993 66725847 - 66848522 66958376 - 1580863;1601549;737741;1601554;1300048;2302972;2302809;2302851;2302971;6480464;6907045;7240710;8554872;8699517 12112657;15507531;18613815;4353083;5773282;6049928;9585612 10229653;12142734;12437512;12477932;15146197;15489334;16325442;16344560;16729965;18297087;18676167;18678647;19004141;19296078;19306334;20301764;20431927;20807508;20877624;21139048;21642987;21926972;22174851;22939629;23294723;23383084;23798571;24163370;24583282;24654937;24816145;25027693;3555348;6548474;7698008;7805591;7822739;7918683;8048912;8349677;9585002;9597748 5091 E9PRE7;E9PS68;P11498 ABBA01024056;ABBA01024057;ABBA01024058;ABBA01024059;ABBA01024060;AK297705;AMYH02024982;AMYH02024983;AP000485;AP003176;BC011617;CH471076;CN267865;DA542083;HB872407;HB873667;HB875538;HB880048;HB888783;HB921592;HC929816;HC931076;HC932947;HC937457;HC946192;HC979001;K02282;M26122;NG_008319;NM_000920;NM_001040716;NM_022172;S72370;U04641;U30889;U30890;U30891;XM_005274031;XM_005274032;XM_006718577;XM_006718578;XM_006718579 AAA36423;AAA60033;AAA82937;AAA99537;AAB31500;AAH11617;BAG60062;CBF60260;CBF61085;CBF62141;CBF64322;CBF68536;CBF95786;CBU85504;CBU86113;CBU87017;CBU89198;CBU93410;CBV09306;EAW74568;EAW74569;EAW74570;EAW74571;EAW74572;NP_000911;NP_001035806;NP_071504;P11498;XP_005274088;XP_005274089;XP_006718640;XP_006718641;XP_006718642 Hs.89890 1342015;1675818;1736973;1742561;1757547;2152544;2153975;2161000;2219470;5107822;5124780 D11S2683;D1S1178;G07232;GDB:197884;PC;PC__5832;RH92701;RH98812;SHGC-144979;SHGC-30028;STS-U30889 PCB OTTHUMP00000235155;OTTHUMP00000235156;pyruvate carboxylase, mitochondrial;pyruvic carboxylase APPROVED protein-coding ENSG00000173599 HGNC:8636 02032 176860;266150;608786;612304 REVIEWED 6482568 PCBP1-AS1 PCBP1 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 2 p14 70040557 70164923 - 70189395 70314147 - 69962263 70087015 - 6480464;8554872 12477932;14702039 400960 ABBA01075517;ABBA01075518;ABBA01075519;ABBA01075520;ABBA01075521;AC016700;AC079811;AK056822;AK098230;AK308634;AMYH02004031;AMYH02004032;AMYH02004033;AMYH02004034;BC040598;HG494122;HG494123;HG494125;HG494126;HG494127;HG494128;HG494131;HG494132;HG494134;HG494135;HG494137;HG494138;HG494139;HG494140;HG494141;HG494143;HG494148;HG494149;HG494151;HG494153;HG494154;HG494155;HG494156;HG494157;HG494158;HG494174;KF456674;NR_033872 Hs.683864;Hs.716915 1335582;1664073;1667517;1695350;1719513;1722715;1725385;1734776;1760771;1857937;2132900;5014051;5015619;5015961;5022578;5037552;5109281;5118444 A006T05;D11S3114;D11S3316;D15S1477;D1S1423;D1S1425;D2S1554E;D2S2791;D2S327;D8S2278;D8S2279;G60443;RH119010;RH123477;RH16271;SHGC-144287;SHGC-34308;SHGC-68237 AC136007.2 APPROVED ncrna ENSG00000179818 HGNC:42948 VALIDATED 1352135 PCBP2P1 poly(rC) binding protein 2 pseudogene 1 21 21 21 q22.3 25740343 25741963 + 40542208 40544294 - 39170282 39172368 - 10830953;10936052 101060045 ABBA01009348;AF129408;AMYH02037824;NG_033131 1816656;1817504;1897342;1897344;1897346;1897348;1897350;1897352;1897354;1897356;1897358;1897360;1897362;1897364;1897366;1897368;1897370;1897372;1897374;1897376;2202862 ECD09371;ECD09802;REN19463;REN19464;REN19465;REN19466;REN19467;REN19468;REN19469;REN19470;REN19471;REN19472;REN19473;REN19474;REN19475;REN19476;REN19477;REN19478;REN19479;REN19480;stSG622578 APPROVED pseudo ENSG00000235701 HGNC:8649 INFERRED 7943681 PCAT19 prostate cancer associated transcript 19 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 19 19 19 38755282 38806407 - 41960074 42006554 - 41454169 41500644 - 8554872 12477932;23065704 100505495 ABBA01040810;AC005795;AC005945;AC011526;AC243960;AK309432;AMYH02036134;BC070102;HG510809;HG510812;NR_040109 Hs.648878 LINC01190 ncrna ENSG00000267107 HGNC:49593 VALIDATED 4144390 PCBP2P3 poly(rC) binding protein 2 pseudogene 3 5 5 5 q14.3 87041637 87042478 - 91139504 91140345 - 91843687 91844528 - 100131236 ABBA01062169;AC010256;AC093298;AMYH02011788;NG_021857 pseudo HGNC:39032 INFERRED 1351102 PCBP2P2 poly(rC) binding protein 2 pseudogene 2 8 8 8 q21-q22 71509345 71510998 - 75515112 75516763 - 74602877 74604528 - 10936052 286157 ABBA01041985;AC115837;AMYH02018236;NG_008071 1732600 D13S622 APPROVED pseudo HGNC:8650 INFERRED 1353218 PCBP1 poly(rC) binding protein 1 This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. The protein encoded by this gene appears to be multifunctional. It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. It contains three K-homologous (KH) domains which may be involved in RNA binding. This encoded protein together with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. [provided by RefSeq, Jul 2008] 2 2 2 p13-p12 70165361 70167111 + 70313972 70316335 + 70087453 70089203 + 1580863;6480464;6907045 10373504;10455157;10936052;11591653;11790298;12011088;12226669;12414943;12431987;12477932;12527772;12890803;12933794;12970749;14612387;15169918;15246275;15302935;15456888;15489334;15514164;15635413;15933215;16248985;16341674;16510139;16713569;16775011;16964243;17081983;17207965;17314511;17332742;17361185;17383969;17389360;17451601;17622584;17643375;18457437;18511687;18656558;18781797;18850631;19056867;19166625;19211566;19322201;19471022;19727227;19738201;19808671;19946888;20020773;20360068;20361869;20462248;20519371;20609352;20811636;21110914;21139048;21145461;21319273;21549307;21575865;21752917;21832049;21853274;21890473;21906983;21930702;21963094;21987572;21988832;22102042;22105485;22118674;22268729;22304920;22354994;22365833;22412018;22505724;22622828;22623428;22673507;22801034;22863883;22939629;23000965;23125841;23246001;23398456;23402259;23438482;23439585;23443559;23463506;23478261;23602568;23629627;23640898;23798571;23862649;23940783;24457600;24489926;24591637;24816145;24843120;25015289;25027693;7556077;7607214;8152927;8833161;8855318;9234743 5093 Q15365;Q53SS8 ABBA01075521;AC016700;AK130439;AK314225;AMYH02004034;AMYH02004035;BC039742;BM794597;CH471053;FJ224329;NG_029956;NM_006196;U24223;X78137;Z29505 AAA91317;AAH39742;AAX93191;ACI46021;ADQ32466;BAG36897;CAA55016;CAA82631;EAW99834;NP_006187;Q15365 Hs.2853 1734776;1857937;2127305;2190763 A006T05;D2S1554E;PCBP1;SHGC-12894 HEL-S-85;HNRPE1;HNRPX;hnRNP-E1;hnRNP-X OTTHUMP00000160048;alpha-CP1;epididymis secretory protein Li 85;heterogeneous nuclear ribonucleoprotein E1;heterogenous nuclear ribonucleoprotein E1;heterogenous nuclear ribonucleoprotein X;hnRNP E1;nucleic acid binding protein sub 2.3;nucleic acid-binding protein SUB2.3;poly(rC)-binding protein 1 APPROVED protein-coding ENSG00000169564 HGNC:8647 03128 601209 REVIEWED 1626530 PCBP3OT poly(rC) binding protein 3 overlapping transcript q22.3 17525332 100113383 AK126016 BAC86394;Q6ZU33 Hs.474049 FLJ44028 protein-coding HGNC:33548 1316622 PCBP3 poly(rC) binding protein 3 This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 32382957 32473995 + 47268023 47362368 + 45849961 45942454 + 1580863;6480464;8554872 10830953;10936052;12003487;12358435;12477932;14612387;14702039;15489334;16051665;16713569;16780588;17643375;18029348;19914360;20360068;21890473;21901158;21906983;21963094;22178446;22505724;22939629;23000965;23333304;23891004;7556077 54039 E9PFP8;J3QT27;P57721 ABBA01074216;ABBA01074217;AF176329;AJ011931;AJ239328;AK094301;AK310131;AK310672;AL592528;AMYH02037942;AY780793;BC012061;CH471079;NM_001130141;NM_020528 AAG09240;AAH12061;AAV98363;BAC04327;EAX09323;EAX09324;EAX09325;EAX09326;NP_001123613;NP_065389;P57721 Hs.474049 1340966;1661140;1684598;1697462;1790667 D21S112;RH102232;RH38906;SHGC-87718;STS_CEB290 ALPHA-CP3 OTTHUMP00000115464;OTTHUMP00000115465;OTTHUMP00000115466;OTTHUMP00000115467;OTTHUMP00000115468;OTTHUMP00000115469;poly(rC)-binding protein 3 APPROVED protein-coding ENSG00000183570 HGNC:8651 10534 608502 REVIEWED 7353324 PCBP2-OT1 PCBP2 overlapping transcript 1 12 q13.13 53464468 53465057 + 21187392 102157401 ABBA01008340;AC023509;AMYH02026522;KF041153;NR_109828 TUC338 APPROVED ncrna HGNC:49150 VALIDATED 6483996 PCCA-AS1 PCCA antisense RNA 1 13 13 q32.3 101116691 101133269 - 100464437 100481015 - 100885777 AA430203;AA758845;ABBA01027088;AL136526;AMYH02028609;HG505848;NR_047686 Hs.662554 RP11-151A6.5 APPROVED ncrna HGNC:39901 VALIDATED 8553113 PCAT2 prostate cancer associated transcript 2 (non-protein coding) q24.21 24594601 103164619 AC020688;BU852210;NR_119373 Hs.571401 CARLo-4;PCA2;TCONS_00015167 ncrna HGNC:45089 VALIDATED 736733 PCCA propionyl CoA carboxylase, alpha polypeptide The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] 13 13 13 q32 81585804 82027260 + 100741269 101182691 + 100089015 100530437 + 1580863;1600306;6480464;6907045;7240710;8554872;8699517 9385377 10101253;10329019;10502773;11136555;11592820;11749052;12226704;12385775;12477932;12559849;1427880;14702039;15059621;15489334;15890657;16344560;16751776;17051315;17966092;18457437;18678647;19157941;19157943;19296078;19913121;20301313;20379614;20628086;20725044;20877624;21139048;21642987;22156789;22593918;23396134;24244333;2740237;3460076;3555348;3687944;7656816;8125298;8188292;8434582;8889548;8895530 5095 H0Y4B9;H0Y5U0;H0Y798;P05165;Q5JTW6;Q5JVH2 ABBA01027088;ABBA01027089;ABBA01027090;ABBA01027091;ABBA01027092;ABBA01027093;ABBA01027094;AF385926;AK055982;AK225288;AK225299;AK296771;AK298318;AK315503;AL136526;AL353697;AL355338;AL356575;AMYH02028605;AMYH02028606;AMYH02028607;AMYH02028608;AMYH02028609;AMYH02028610;AY035808;BC000140;CB851764;CH471085;DA781564;HB872329;HB873589;HB875460;HB879970;HB888705;HB921514;HC929738;HC930998;HC932869;HC937379;HC946114;HC978923;M13572;M26121;NG_008768;NM_000282;NM_001127692;NM_001178004;S55656;S79219;X14608;XM_005254059;Z36837 AAA36424;AAA60035;AAB25345;AAB35181;AAH00140;AAK61392;AAL66189;BAG37887;BAG59350;BAG60571;CAA32763;CBF60221;CBF61046;CBF62102;CBF64283;CBF68497;CBF95747;CBU85465;CBU86074;CBU86978;CBU89159;CBU93371;CBV09267;EAX09032;EAX09033;EAX09034;NP_000273;NP_001121164;NP_001171475;P05165;XP_005254116 Hs.80741 1334720;1649153;1713957;1757435;1772427;1855513;2111632;2161771 D13S1267;D13S1567;G17705;G29194;RH119407;SGC38322;SHGC-12499;SHGC-144820 OTTHUMP00000018635;PCCase alpha subunit;pccA complementation group;propanoyl-CoA:carbon dioxide ligase alpha subunit;propionyl Coenzyme A carboxylase, alpha polypeptide;propionyl-CoA carboxylase alpha chain, mitochondrial APPROVED protein-coding ENSG00000175198 HGNC:8653 01981 232000;606054 REVIEWED 1318287 PCDH1 protocadherin 1 This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008] 5 5 5 q31.3 137309824 137335077 - 141232655 141258361 - 141853090 141878806 - 1580863;6480464;8554872 10716726;10817752;10835267;12477932;15174051;15231748;15345747;15592455;16303743;16344560;19729670;21103663;21906983;21929597;21982948;23050600;23377640;23406873;8508762;8889548;9132272 5097 A8K0E7;B3KQM8;B4DUA8;B4E2D8;D6RAX3;D6RBG2;H0Y9F5;H0Y9I5;Q08174 ABBA01026398;ABBA01026399;AC094107;AK075233;AK289512;AK300564;AK304231;AK308338;AMYH02012348;BC035812;BC051287;BC075821;BM680840;BU743106;CH471062;CS174722;DA096772;HO663512;L11369;NM_001278613;NM_001278615;NM_002587;NM_032420;XM_005268452;XM_005268453;XM_005268454;XM_005268455;XM_005268456 AAA36418;AAH35812;ADZ15535;BAF82201;BAG52090;BAG62270;BAG65100;CAJ34554;EAW61900;EAW61901;EAW61902;EAW61903;NP_001265542;NP_001265544;NP_002578;NP_115796;Q08174;XP_005268509;XP_005268510;XP_005268511;XP_005268512;XP_005268513 Hs.79769 1790761;1790763;2113804;2143004 5q31-33_43;5q31-33_44;PCDH1;WI-7860 FLJ53887;MGC45991;PC42;PCDH42 OTTHUMP00000160067;OTTHUMP00000198748;OTTHUMP00000222763;cadherin-like 1;cadherin-like protein 1;protocadherin 42;protocadherin-1;protocadherin-42 APPROVED protein-coding ENSG00000156453 HGNC:8655 04692 603626 REVIEWED 1348202 PCDH10 protocadherin 10 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The mRNA encodes a cadherin-related neuronal receptor thought to play a role in the establishment and function of specific cell-cell connections in the brain. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Alternatively spliced transcripts encode isoforms with unique cytoplasmic domains. [provided by RefSeq, Jul 2008] 4 4 4 q28.3 131409480 131451744 + 134070470 134112732 + 133149315 133191577 + 1580863;6480464;8554872 10380929;10716726;10718198;10817752;10835267;11230163;11549318;12477932;16247458;18621663;18644894;19084528;19262141;19681120;19709077;20353276;20379614;21237250;21314642;21597995;21960365;22206871;22245948;22543497;23171734;23180019;23260144;23321168;23321465;23569128;23839493;23929756;24406169;24722188;8012384 57575 Q9NSR3;Q9P2E7;X5D999 AB037821;ABBA01044864;AC105383;AK024636;AK314377;AL157470;AMYH02010135;AY013874;BC111560;CH471056;KJ534913;KJ534914;NM_020815;NM_032961;Z60272 AAI11561;AAK21987;AAY41018;AHW56553;AHW56554;BAA92638;BAB14940;BAG37004;CAB75667;EAX05151;EAX05152;NP_065866;NP_116586;Q9P2E7 Hs.192859 2107485;2163622;2168985 L29660;PCDH10_3290.2;SHGC-24774 DKFZp761O2023;KIAA1400;MGC133344;OL-PCDH;PCDH19 OTTHUMP00000220001;ortholog of OL-pcdh;protocadherin-10 APPROVED protein-coding ENSG00000138650 HGNC:13404 12204 608286 REVIEWED 1349634 PCDH11Y protocadherin 11 Y-linked This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] X Y Y p11.2 91530312 92381809 + 4868267 5610269 + 5000226 5742228 + 1580863;6480464;8554872 10716726;10817752;10835267;11003707;12420223;12815422;14660691;14727141;15274028;15297598;15958572;16331680;16637074;16741946;16825765;16874762;17189292;17357069;17671842;18029348;18938061;19125366;19812029;19859901;20503398;21276771;21480486;22744706;22808956;23600975 83259 H0Y3S6;J3QSR5;Q70LR4;Q9BZA8 AA865592;ABBA01069889;ABBA01069890;ABBA01069891;ABBA01069892;ABBA01069893;ABBA01069894;ABBA01069895;ABBA01069896;ABBA01069897;ABBA01069898;ABBA01069899;ABBA01069900;ABBA01069901;ABBA01069902;ABBA01069903;ABBA01069904;ABBA01069905;ABBA01069906;ABBA01069907;ABBA01069908;ABBA01069909;ABBA01069910;ABBA01069911;ABBA01069912;ABBA01069913;ABBA01069914;ABBA01069915;ABBA01069916;ABBA01069917;ABBA01069918;ABBA01069919;ABBA01069920;ABBA01069921;ABBA01069922;ABBA01069923;ABBA01069924;ABBA01069925;AC010081;AC010129;AC010685;AC010722;AC012067;AC012667;AF277053;AF332216;AF332217;AJ276803;AJ564853;AJ564948;AJ564949;AJ564954;AJ564956;AJ564957;AJ564958;AJ564960;AJ564961;AJ564962;AJ564963;AJ564964;AJ564966;AJ564967;AJ564969;AJ564970;AJ564971;AK289676;NG_011652;NM_001278619;NM_032971;NM_032972;NM_032973 AAI52898;AAK13468;AAK13469;AAL55729;BAF82365;CAC13122;CAD92427;CAD92428;CAD92429;CAD92431;CAD92432;CAD92433;CAD92434;CAD92435;CAD92437;CAD92438;CAD92440;CAD92441;CAD92442;NP_001265548;NP_116753;NP_116754;NP_116755;Q9BZA8 Hs.661308;Hs.689830 1660711;1663704;1678715;1689783;1691230;1702162;1703168;1724445;1725447;1732481;1770137;1781870;1790915;1848546;1849303;1851695;2124627;2130709;2134617;2135242;2138579;2142350;2146914;2152259;2155013;2155098;2160372;2164797;2169405;2176127;2182629;2188137;2188139;2188141;2188143;2188145;2188147;2188149;2188151;2188153;2188155;2188157;2188159;2188161;2188163;2188165;2188171;2188177;2188181;2188183;2188185;2188187;2188191;2188871;2218800;5015404;5016478;5021860;5021866;5021870;5022651;5023051;5023057;5023061;5023063;5024413;5116510;5116512;5116524;5116526;5116528;5116550;5116554;5116556;5116558;5116560;5116580;5116582;5116584;5116586;5116588;5116590;5116592;5116594;5116596;5116598;5116600;5116644;5116646;5116650;5116668;5116672;5116674;5116676;5116678;5116680;5116682;5116684;5116686;5116688;5116690;5116692;5116694;5116696;5116698;5116700;5116702;5116704 AFM178XC11;D11S2921;DXS1468;DXS1495;DXS7616;DXS7644;DXS7645;DXS7646;DXS7650;DXS7684;DXS7686;DXS7704;DXS8365;DXS9769;DXYS12;DXYS121;DXYS122;DXYS123;DXYS124;DXYS221;DXYS9;DYS254;DYS255;G19304;G65945;G66075;G66076;G66077;G66078;G66080;G66081;G66082;G66083;G66084;G66085;G66087;G66088;G66089;G66090;G66091;G66247;G66251;G66253;G66254;G66255;G66257;G66259;GDB:434012;L17705;L17877;PCDHXI68236;RH119119;RH122385;RH65271;RH65378;SHGC-100227;SHGC-53941;UniSTS:149007;sY1240;sY3026;sY3027;sY3035;sY3036;sY3037;sY3038;sY3039;sY3054;sY3056;sY3057;sY3058;sY3059;sY3060;sY3061;sY3073;sY3074;sY3075;sY3076;sY3077;sY3078;sY3079;sY3080;sY3081;sY3082;sY3083;sY3085;sY3086;sY3087;sY3109;sY3110;sY3112;sY3121;sY3123;sY3124;sY3125;sY3126;sY3127;sY3128;sY3129;sY3130;sY3131;sY3132;sY3133;sY3134;sY3135;sY3136;sY3137;sY3138;sY3139 PCDH-PC;PCDH-Y;PCDH11X;PCDH22;PCDHX;PCDHY OTTHUMP00000033076;OTTHUMP00000033077;OTTHUMP00000033078;protocadherin 22;protocadherin Y;protocadherin on the Y chromosome;protocadherin prostate cancer;protocadherin-11 Y-linked;protocadherin-22;protocadherin-PC APPROVED protein-coding ENSG00000099715 HGNC:15813 11847 400022 REVIEWED 1348823 PCDH12 protocadherin 12 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008] 5 5 5 q31 137401663 137415757 - 141323150 141338627 - 141943585 141959062 - 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11063261;12477932;12975309;14702039;19054571;21402705;9651350 51294 E5RJD4;Q9NPG4 AB026893;ABBA01026392;AC005740;AF231025;AF240635;AK023785;AK024140;AK027282;AK226049;AK315029;AMYH02012352;AY358428;BC042634;BC052973;CA418447;CH471062;NM_016580 AAF61931;AAF73962;AAH42634;AAH52973;AAQ88794;BAA95162;BAB14677;BAB14837;BAB55016;BAG37515;EAW61898;NP_057664;Q9NPG4 Hs.439474;Hs.600230 1740507;1796460 D5S2298E;PCDH12_368 VE-cadherin-2;VECAD2 OTTHUMP00000160063;VE-cad-2;VE-cadherin 2;protocadherin-12;vascular cadherin-2;vascular endothelial cadherin 2;vascular endothelial cadherin-2 APPROVED protein-coding ENSG00000113555 HGNC:8657 09287 605622 REVIEWED 731965 PCCB propionyl CoA carboxylase, beta polypeptide The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] 3 3 3 q21-q22 134394227 134474215 + 135969167 136056737 + 136250325 136332589 + 1600331;1580863;1300048;6480464;6907045;7240710;8554872;8699517 8411997 10447268;10502773;11749052;12007220;12189489;12477932;12559849;12757933;14671302;15059621;15489334;16344560;17051315;18457437;18678647;19380743;19913121;19936222;20031576;20186120;20301313;20628086;20725044;20877624;20881960;21139048;2154743;21642987;22593918;23969696;240144;24244333;2587127;2895916;3460076;6245185;7092804;8125298;8188292;8225321;9683601 5096 C9JAW3;C9JQS9;C9JVW9;C9JVY9;E7ENC1;E7ETT1;E7ETT4;E7EUY3;E7EX59;E9PDR0;E9PEC3;F8WBI9;H7C5C9;P05166 AB209009;ABBA01059126;ABBA01059127;AC069524;AF217984;AI191766;AJ006487;AK130359;AK225215;AK225733;AK295312;AK302522;AK303079;AL831978;AMYH02007740;AMYH02007741;AY399219;BC005909;BC013768;BC018013;BC053661;CH471052;DA090969;M13573;M31167;M31169;NG_008939;NM_000532;NM_001178014;S67325;X73424;XM_005247508 AAA60036;AAA60037;AAA60038;AAB28900;AAG17227;AAH13768;AAH18013;AAH53661;ADZ15494;BAD92246;BAH12030;BAH13735;BAH13894;CAA07066;CAA51825;CAD89898;EAW79116;EAW79117;EAW79118;NP_000523;NP_001171485;P05166;XP_005247565 Hs.63788 1684497;1699244;1773794;2116919;2142095;2153056;5015925;5016596;5093096;5120830;5120832;5120834;5120838;5491409 A009F46;G32517;GDB:375677;GDB:375685;GDB:375688;GDB:375691;GDB:375697;GDB:631802;MARC_10213-10214:997278182:1;RH103203;RH94340;SHGC-54603;SHGC-64944;WI-15777 DKFZp451E113 OTTHUMP00000216506;OTTHUMP00000216507;OTTHUMP00000216508;OTTHUMP00000216510;OTTHUMP00000216511;OTTHUMP00000216512;OTTHUMP00000216513;OTTHUMP00000216514;OTTHUMP00000216515;OTTHUMP00000216522;PCCase subunit beta;propanoyl-CoA:carbon dioxide ligase subunit beta;propionyl Coenzyme A carboxylase, beta polypeptide;propionyl-CoA carboxylase beta chain, mitochondrial APPROVED protein-coding ENSG00000114054 HGNC:8654 01982 232050;606054 REVIEWED 1312379 PCDH17 protocadherin 17 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008] 13 13 13 q21.1 39160322 39257584 + 58204238 58303445 + 57630104 57729311 + 1580863;6480464;8554872 10716726;10817752;10835267;11082270;12477932;14702039;15057823;15342556;15489334;15604093;15905963;16344560;16713569;17464717;17672918;17978184;18353903;18718692;19449025;19945174;20180417;20200074;21213369;22207556;22589738;22926751;23684785;24366498 27253 O14917 ABBA01037015;AF029343;AK001134;AK289980;AK307545;AL137503;AL137505;AL445216;AL445288;AMYH02028111;AMYH02028112;BC028165;BF511144;BP286383;CH471124;DA458702;NM_001040429;XM_005266357;XM_005266358 AAB84144;AAH28165;BAF82669;EAW52059;EAW52060;EAW52061;NP_001035519;O14917;XP_005266414;XP_005266415 Hs.106511 1338875;1653894;1663721;1776339;1796462;2124520;2166886;2166888;2182844;5022749;5094981 A006F33;D13S1303;G20769;LOC144997;PCDH17;PCDH17_1260;RH44773;SHGC-30612;SHGC-33151;SHGC-56621;WI-18283 PCDH68;PCH68 OTTHUMP00000018476;protocadherin 68;protocadherin-17;protocadherin-68 APPROVED protein-coding ENSG00000118946 HGNC:14267 611760 REVIEWED 1320065 PCBP2 poly(rC) binding protein 2 The protein encoded by this gene appears to be multifunctional. Along with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding proteins. The encoded protein contains three K-homologous (KH) domains which may be involved in RNA binding. Together with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. This multiexon structural mRNA is thought to be retrotransposed to generate PCBP-1, an intronless gene with functions similar to that of PCBP2. This gene and PCBP-1 have paralogous genes (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. Thsi gene also has two processed pseudogenes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 53496252 53525328 + 53845886 53874946 + 53452102 53481162 + 6480464;8554872 10068686;10373504;10455157;10772858;10936052;11747608;12011088;12226669;12414943;12477932;12515719;12527772;12970749;14612387;14702039;15231748;15331611;15489334;16094384;16186123;16196087;16341674;16713569;17081983;17145707;17183366;17219427;17327219;17426136;17526645;17581994;17643375;17672918;18029348;18086560;18174314;18252259;18457437;18656221;18687895;18701464;18781797;18850631;18929541;19029303;19211566;19230839;19322201;19471022;19738201;19808671;19881509;19945132;19946888;20000738;20020773;20211135;20360068;20946988;21081666;21110914;21139048;21145461;21252943;21319273;21632751;21723381;21752917;21853274;21890473;21906983;21963094;21987572;21988832;22022391;22079093;22118674;22268729;22365833;22379092;22431556;22438951;22505724;22623428;22633452;22797925;22939629;22990118;23000965;23246001;23438482;23443559;23463506;23585479;23629627;23640898;23798571;24250222;24371074;24418535;24457600;24583282;24607900;24654937;24796666;24816145;24843120;25015289;25027693;7556077;7607214;8125298;8833161;8855318;8871564;9223526;9234743 5094 B4DLC0;B4DXP5;F8VRH0;F8VTZ0;F8VXH9;F8VZX2;F8W0G4;F8W1G6;H3BND9;H3BRU6;H3BSP4;H3BSS4;Q15366 AB188306;AB208825;ABBA01008340;ABBA01008341;AC023509;AC068889;AK023529;AK123458;AK130583;AK225357;AK292141;AK299210;AK302067;AMYH02026521;AMYH02026522;AMYH02026523;AMYH02026524;AX711238;AX711240;BC001155;BC035420;BC071942;BC107688;BE748080;BF509278;BM764315;BU844465;CH471054;CS185528;CX164318;NM_001098620;NM_001128911;NM_001128912;NM_001128913;NM_001128914;NM_005016;NM_031989;X78136 AAH01155;AAH71942;AAI07689;BAD36897;BAD92062;BAF84830;BAG61249;BAG63457;CAA55015;CAD88579;CAD88580;CAJ42709;EAW96706;EAW96707;EAW96708;EAW96709;EAW96710;EAW96711;NP_001092090;NP_001122383;NP_001122384;NP_001122385;NP_001122386;NP_005007;NP_114366;Q15366 Hs.546271 1650453;1657491;1671215;1745099;1747723;1765557;1849234;2116267;2123827;2145852;2177416;2202860;5019829 A009Z15;D12S2095;D12S2145;G15864;G33012;G64241;GDB:593999;RH68110;RH68915;SHGC-149024;SHGC-34296;WI-20583;stSG622577 HNRNPE2;HNRPE2;MGC110998;hnRNP-E2 OTTHUMP00000241100;OTTHUMP00000241101;OTTHUMP00000241102;OTTHUMP00000241103;OTTHUMP00000241104;OTTHUMP00000242722;OTTHUMP00000242723;OTTHUMP00000243002;OTTHUMP00000243006;OTTHUMP00000243008;OTTHUMP00000243010;OTTHUMP00000243320;alpha-CP2;heterogeneous nuclear ribonucleoprotein E2;heterogenous nuclear ribonucleoprotein E2;hnRNP E2;poly(rC)-binding protein 2 APPROVED protein-coding ENSG00000197111 HGNC:8648 03129 601210 REVIEWED 1314837 PCDH20 protocadherin 20 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008] 13 13 13 q21 42943860 42949698 - 61983818 61989655 - 61409685 61415522 - 1580863;6480464;8554872 10716726;10817752;10835267;11082270;12477932;14702039;15489334;20834067;21875946;21907864;22359512;23212062;8012384;8889549 64881 B3KSZ7;Q8N6Y1 AA040057;ABBA01050232;ABBA01050233;AF169693;AK025871;AK094680;AK289924;AK314607;AL162575;AL592490;AL833830;AMYH02028145;BC027907;CH471124;NM_022843;Z60483 AAF89690;AAH27907;ADZ16004;BAB15265;BAF82613;BAG37177;BAG52909;CAD38690;EAW52085;NP_073754;Q8N6Y1 Hs.391781 1796466;2144518;2185585 1172;PCDH20_1029;STS-N34280 FLJ22218;PCDH13 OTTHUMP00000018487;OTTHUMP00000204661;protocadherin 13;protocadherin-13;protocadherin-20 APPROVED protein-coding ENSG00000280165 HGNC:14257 614449 VALIDATED 1346973 PCDH7 protocadherin 7 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008] 4 4 4 p15 31175622 31601081 + 30721951 31148423 + 30720329 31146801 + 1580863;6480464;8554872 10571067;10716726;10817752;10835267;12477932;15302935;15592455;17081983;19414679;20379614;21875946;22028671;22939629;23251661;23369722;23751349;9615233 5099 F5GWJ1;H0YAH0;O60245 AB006755;AB006756;AB006757;ABBA01032774;ABBA01032775;ABBA01032776;ABBA01032777;ABBA01032778;ABBA01032779;ABBA01032780;ABBA01032781;ABBA01032782;AC097716;AC098595;AC107394;AC110766;AC112239;AI041228;AMYH02008971;AMYH02008972;AMYH02008973;AMYH02008974;AMYH02008975;BC020338;BC040983;BG289962;CH471069;NM_001173523;NM_002589;NM_032456;NM_032457;XM_005248163;XM_005248164;XM_005248165;XM_005248166 AAY40944;BAA25194;BAA25195;BAA25196;EAW92861;EAW92862;EAW92863;EAW92864;EAW92865;NP_001166994;NP_002580;NP_115832;NP_115833;O60245;XP_005248220;XP_005248221;XP_005248222;XP_005248223 Hs.479439 1656378;1690972;1701542;1707684;1707750;1797954;1850072;1854619;2107801;2113764;2120466;2143946;2155330;2156010;2166682;2171705;2172933;2183634;5017533 112XD4;AB047893;D4S1247;D4S1277;D4S3215;D4S322;D4S914;MARC_37771-37772:1070384014:1;PCDH7;PCDH7_2161;RH104404;RH70173;RH92605;SHGC-51751;SHGC-67738;SHGC-82015;SHGC-82091;STS-H62404;WI-14915 BH-Pcdh;BHPCDH;FLJ97161;PPP1R120 BH-protocadherin (brain-heart);OTTHUMP00000218096;OTTHUMP00000218098;brain-heart protocadherin;protocadherin-7 APPROVED protein-coding ENSG00000169851 HGNC:8659 04288 602988 REVIEWED 1314160 PCDH18 protocadherin 18 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008] 4 4 4 q31 135775766 135789284 - 138440072 138453629 - 137518918 137532475 - 1580863;6480464;8554872 10716726;10817752;10835267;10997877;11082270;11549318;11716507;12477932;22832960;23251661;23393555;23719583 54510 B4DLR6;B4DQ29;D6RIG4;Q9HCL0 AB046782;ABBA01044903;AC142278;AC144556;AK292018;AK297122;AK298607;AL137471;AMYH02010172;AW244162;BC022227;BC071581;BC093815;BC143361;BG541979;BQ017212;BX097655;BX647786;CH471056;NM_001300828;NM_019035;XM_005263070;XM_006714239 AAH93815;AAI43362;BAB13388;BAF84707;BAG59628;BAG60791;CAB70755;CAI46014;EAX05139;EAX05140;EAX05141;NP_001287757;NP_061908;Q9HCL0;XP_005263127;XP_006714302 Hs.591691;Hs.738416 1644010;1676566;1796464;5017522 PCDH18;PCDH18_1716;RH92584;SHGC-59301 DKFZp434B0923;KIAA1562;PCDH68L OTTHUMP00000220079;OTTHUMP00000220080;OTTHUMP00000220081;OTTHUMP00000220082;protocadherin 68-like protein;protocadherin-18 APPROVED protein-coding ENSG00000189184 HGNC:14268 12205 608287 REVIEWED 735353 PCDH8 protocadherin 8 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008] 13 13 13 q21.1 34403981 34408646 - 53418109 53422775 - 52843974 52848640 - 1580863;6480464;8554872 10380929;10383464;10716726;10817752;10835267;11230163;12477932;12884975;15489334;16713569;18408767;21900206;22273848;22658931;22837378;22909775;22941331;23569129;9315676;9787079 5100 B4DEQ8;O95206 ABBA01037065;ABBA01037066;AF018664;AF061573;AK293747;AK297652;AL139085;AMYH02028052;AY013873;BC036025;CH471124;NM_002590;NM_032949 AAC70009;AAH36025;AAK21986;ABM84265;BAG57169;BAG60019;EAW52049;EAW52050;EAW52051;NP_002581;NP_116567;O95206 Hs.19492 1710840;1717987;1797956;1854130 PCDH8_2439;RH122610;SHGC-84189;WI-15460 PAPC ARCADLIN;OTTHUMP00000018464;OTTHUMP00000018465;protocadherin-8 APPROVED protein-coding ENSG00000136099 HGNC:8660 04660 603580 REVIEWED 5131390 PCDH8P1 protocadherin 8 pseudogene 1 13 13 13 q14.3 34760148 34762588 + 53774116 53776547 + 53199981 53202412 + 100133285 ABBA01037063;AL136359;AL450423;AMYH02028053;NG_011534 1705040;1707272;1713479;1730926;2167094 D13S1170;D13S59;RH120223;SHGC-78038;SHGC-79237 pseudo HGNC:39937 INFERRED 1354208 PCDH19 protocadherin 19 The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] X X X q22.1 100067096 100185714 - 99546642 99665271 - 100291644 100410273 - 6480464;7240710;8554872;8699517 10718198;11549318;12477932;14702039;15772651;16261168;16344560;18469813;19214208;19752159;20713952;20830798;21053371;2126489;21480887;21504426;21519002;21777234;22050978;22091964;22504056;22848613;22946748;22949144;23066759;23093055;23334464;23712037;5116697;8889548;9288105 57526 B3KU71;Q8TAB3 AB037734;ABBA01064170;ABBA01064171;ABBA01064172;ABBA01064173;ABBA01064174;ABBA01064175;ABBA01064176;ABBA01064177;ABBA01064178;ABBA01064179;AK055951;AK096591;AL355593;AL590412;AMYH02040054;AMYH02040055;AMYH02040056;BC136628;BM975868;CH471115;CR749278;DA500179;EF676096;NG_021319;NM_001105243;NM_001184880;NM_020766 AAI36629;ABX58058;BAA92551;BAG53333;CAH18133;EAX02804;EAX02805;NP_001098713;NP_001171809;NP_065817;Q8TAB3 Hs.4993 1338955;1340542;1766893;1786674;1853351;1855967;2080370;2170266;2183035;2184343 AFM019TA1;DXS7002E;DXS7486;DXS8020;DXS8034;G13210;REN111392;SHGC-151197;SHGC-152336;WI-14790 DKFZp686P1843;EFMR;EIEE9;KIAA1313 OTTHUMP00000023649;OTTHUMP00000023650;OTTHUMP00000226658;protocadherin-19 APPROVED protein-coding ENSG00000165194 HGNC:14270 11843 300088;300460 REVIEWED 6481275 PCDH9-AS1 PCDH9 antisense RNA 1 q21.32 100874065 AL355173 APPROVED ncrna HGNC:39897 6481271 PCDH9-AS2 PCDH9 antisense RNA 2 ASSOCIATED WITH Lung Neoplasms (inferred) 13 13 67399301 67489173 + 66825169 66915031 + 8554872 100874064 AA889658;ABBA01050283;AL138682;AL138814;AMYH02028197;AMYH02028198;BX117607;HG505712;NR_046527 Hs.569284 APPROVED ncrna ENSG00000228842 HGNC:39896 VALIDATED 6481290 PCDH9-AS3 PCDH9 antisense RNA 3 13 13 67551521 67559964 + 66977389 66985776 + 100874086 ABBA01050286;AI073488;AL138682;AMYH02028199;BX096806;HG505713;NR_046636 Hs.577908;Hs.738194 RP11-138D23.2 APPROVED ncrna ENSG00000225263 HGNC:40427 VALIDATED 1314916 PCDH9 protocadherin 9 This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2012] 13 13 13 q21.32 47778636 48706116 - 66876966 67804468 - 66302834 67230336 - 1580863;6480464;8554872 10716726;10817752;10835267;12477932;14702039;15057823;16147992;16344560;19322201;19913121;20379614;20628086;21552555;21875946;22300792;22424883;23064961;24250222;24722188;9787079 5101 B7ZM79;Q5VT82;Q9HC56;X5D7N0 AB114416;ABBA01050279;ABBA01050280;ABBA01050281;ABBA01050282;ABBA01050283;ABBA01050284;ABBA01050285;ABBA01050286;ABBA01050287;ABBA01050288;AF169692;AI300218;AK054661;AK057768;AL136999;AL138682;AL138814;AL160254;AL355173;AL356305;AL450107;AL603863;AL834258;AMYH02028192;AMYH02028193;AMYH02028194;AMYH02028195;AMYH02028196;AMYH02028197;AMYH02028198;AMYH02028199;AMYH02028200;AMYH02028201;BC136626;BC136627;BC144321;BC150296;BX537422;CH471093;DA278856;KF455795;KF455796;KJ534915;NG_011876;NM_020403;NM_203487;R38168;XM_005266406;XM_005266407;XM_005266408 AAF89689;AAI36627;AAI36628;AAI44322;AAI50297;AHW56555;CAD38933;CAD97664;EAW80499;NP_065136;NP_982354;Q9HC56;XP_005266463;XP_005266464;XP_005266465 Hs.654709 1337395;1338961;1339276;1650156;1660405;1664841;1664843;1668205;1668868;1670913;1682203;1689859;1698012;1701210;1704424;1707254;1710816;1711292;1711316;1715179;1715539;1719363;1729618;1738445;1767684;1771180;1773486;1782834;1848192;1849566;1849568;1856682;2111544;2116323;2121394;2128319;2142576;2170888;5017759 70;A002Q15;A005R38;A006D13;D11S851;D13S1231;D13S1268;D13S1317;D13S1488;D13S1509;D13S1824;D13S509E;D13S776;D13S884;G20450;G20719;PCDH9;RH102535;RH104233;RH119840;RH123409;RH123515;RH45841;RH45876;RH46009;RH46139;RH68572;RH94183;SGC30758;SHGC-132849;SHGC-53438;SHGC-53492;SHGC-79223;SHGC-82913;SHGC-84152;SHGC-84897;SHGC-84911;STS-AA017695;STS-U44100 OTTHUMP00000018490;OTTHUMP00000178682;cadherin superfamily protein VR4-11;protocadherin-9 2303085 MAMTS48_H APPROVED protein-coding ENSG00000184226 HGNC:8661 04661 603581 REVIEWED 6481292 PCDH9-AS4 PCDH9 antisense RNA 4 ASSOCIATED WITH Lung Neoplasms (inferred) 13 q21.32 66990886 67002000 + 8554872 100874087 ABBA01050286;AI809643;AL138682;AMYH02028199;HG505714;NG_011876;NR_046637 Hs.606903 RP11-138D23.3 APPROVED ncrna ENSG00000233840 HGNC:40428 VALIDATED 1353305 PCDH11X protocadherin 11 X-linked This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] X X X q21.3 91530268 92381817 + 91034260 91878229 + 91779261 92623230 + 6480464;8554872 10644456;10716726;10718198;10817752;10835267;11003707;12815422;14660691;14727141;15772651;15905963;16825765;16874762;18029348;18187620;18502103;19125366;19136949;19389623;19859901;20523261;20555150;20574532;20707987;21276771;22744706;22808956;23600975;24591081;8619474;8889548;9110174 27328 H7BXL5;Q9BZA7 AB026187;AB026188;AB037747;ABBA01011636;AC004388;AC004478;AF206516;AF217288;AF332218;AF332219;AJ276804;AJ564847;AJ564855;AJ564856;AJ564931;AJ564932;AJ564933;AJ564934;AJ564935;AJ564936;AJ564937;AJ564938;AJ564939;AJ564942;AJ564943;AJ564945;AJ564946;AJ564947;AJ564959;AK299813;AK316263;AL121869;AL133274;AL133321;AL136362;AL590122;AMYH02039951;AMYH02039952;AMYH02039953;AMYH02039954;AMYH02039955;AMYH02039956;AMYH02039957;AMYH02039958;AMYH02039959;AMYH02039960;AMYH02039961;AMYH02039962;AMYH02039963;AMYH02039964;AMYH02039965;AY861432;AY861433;AY861434;AY861435;BQ184367;DC350976;NG_016251;NM_001168360;NM_001168361;NM_001168362;NM_001168363;NM_014522;NM_032967;NM_032968;NM_032969;U79247 AAI67817;AAK13470;AAK13471;AAK82655;AAK82656;AAX56122;AAX56123;AAX56124;AAX56125;BAA90765;BAA90766;BAA92564;BAG61685;BAH14634;CAC13123;CAD92410;CAD92411;CAD92412;CAD92413;CAD92414;CAD92415;CAD92416;CAD92417;CAD92418;CAD92421;CAD92422;CAD92424;CAD92425;CAD92426;CAD92430;NP_001161832;NP_001161833;NP_001161834;NP_001161835;NP_055337;NP_116749;NP_116750;NP_116751;Q9BZA7 Hs.655673 1660711;1663704;1678715;1689783;1691230;1702162;1703168;1724445;1725447;1732481;1770137;1781870;1848546;1849303;1851695;2124627;2130709;2134617;2135242;2138579;2146914;2152259;2155013;2155098;2160372;2164797;2169405;2176127;2182629;2188137;2188139;2188141;2188143;2188145;2188147;2188151;2188153;2188155;2188157;2188159;2188161;2188163;2188165;2188171;2188177;2188181;2188183;2188185;2188187;2188191;2218798;2218800;5015404;5016478;5021860;5021866;5021870;5021872;5022651;5023051;5023057;5023061;5116510;5116524;5116526;5116550;5116554;5116556;5116558;5116560;5116586;5116588;5116590;5116592;5116594;5116596;5116598;5116600;5116646;5116676;5116678;5116680;5116682;5116686;5116690;5116694;5116696;5116698;5116700;5116702;5116704 AFM178XC11;D11S2921;DXS1468;DXS1495;DXS7616;DXS7644;DXS7645;DXS7646;DXS7650;DXS7684;DXS7686;DXS7704;DXS8365;DXS9769;DXYS12;DXYS122;DXYS123;DXYS124;DXYS221;DXYS9;DYS254;DYS255;G19304;G66075;G66076;G66077;G66078;G66080;G66081;G66083;G66084;G66085;G66087;G66088;G66089;G66090;G66091;G66247;G66251;G66253;G66254;G66255;G66257;G66259;GDB:434012;L17705;PCDHXE4.1UTR;PCDHXI68236;RH119119;RH122385;RH65271;RH65378;SHGC-100227;SHGC-53941;UniSTS:149007;sY3026;sY3035;sY3036;sY3037;sY3038;sY3054;sY3056;sY3057;sY3058;sY3059;sY3060;sY3061;sY3074;sY3076;sY3078;sY3079;sY3080;sY3081;sY3082;sY3084;sY3085;sY3086;sY3087;sY3110;sY3125;sY3126;sY3127;sY3128;sY3130;sY3132;sY3134;sY3135;sY3136;sY3137;sY3138;sY3139 PCDH-X;PCDH11;PCDHX;PCDHY;PPP1R119 OTTHUMP00000023640;OTTHUMP00000023641;OTTHUMP00000023642;OTTHUMP00000023643;OTTHUMP00000023644;OTTHUMP00000217564;OTTHUMP00000217565;OTTHUMP00000217566;protocadherin 11X;protocadherin on the X chromosome;protocadherin-11 X-linked;protocadherin-S APPROVED protein-coding ENSG00000102290 HGNC:8656 02215 300246 REVIEWED 1317376 PCBP4 poly(rC) binding protein 4 This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing apoptosis and cell cycle arrest in G(2)-M. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-length nature for only some has been determined. [provided by RefSeq, Jul 2008] 3 3 3 p21 51970297 51980309 - 51991470 52001482 - 51957454 51967466 - 1580863;6480464;8554872 10891498;10936052;11313928;11984006;12003487;12477932;14612387;14702039;15205328;15489334;16344560;16713569;17973258;19913121;20628086;21906983;22505724;22797925;8125298;8889548 57060 B3KM64;C9IZV9;C9J0A4;C9J5V4;C9J7A9;C9JSA6;C9JTY5;C9JZY3;C9K0A2;F8WC71;P57723;Q9GZT1 ABBA01024518;AC115284;AF092441;AF141340;AF176330;AF257770;AF257771;AF257772;AK001244;AK023993;AK225815;AMYH02006794;AX876322;AX881075;BC003008;BC004153;BC017098;BU684420;BX647811;CH471055;DA074216;DA701799;NG_029694;NM_001174100;NM_020418;NM_033008;NM_033010;XM_005265330;XM_005265331;XM_005265332;XM_006713266;XM_006713267;XM_006713268;XM_006713269;XM_006713270;XM_006713271 AAG02184;AAG02185;AAG02186;AAG09241;AAG49443;AAH03008;AAH04153;AAH17098;AAP97216;BAB14761;BAG50876;CAE89221;CAE91197;EAW65165;EAW65166;EAW65167;EAW65168;EAW65169;EAW65170;EAW65171;EAW65172;EAW65173;EAW65174;EAW65175;EAW65176;EAW65177;NP_001167571;NP_065151;NP_127501;NP_127503;P57723;XP_005265387;XP_005265388;XP_005265389;XP_006713329;XP_006713330;XP_006713331;XP_006713332;XP_006713333;XP_006713334 Hs.20930 1661928;1743077;1852613;2181930;2219462;5491248 GDB:251741;MARC_5625-5626:991939665:1;PCBP4__5834;RH16446;SGC33900;STS-W84536 CBP;LIP4;MCG10 LYST-interacting protein;OTTHUMP00000212035;OTTHUMP00000212036;OTTHUMP00000212037;OTTHUMP00000212039;RNA binding protein MCG10;alpha-CP4;alphaCP-4 protein;poly(rC)-binding protein 4 APPROVED protein-coding ENSG00000090097 HGNC:8652 16343 608503 REVIEWED 1350988 PCDHA14 protocadherin alpha 14 pseudogene 5 5 5 q31 136317581 136319946 + 140240773 140243135 + 140861188 140863550 + 10380929;10662547;10716726;10817752;10835267;11230163 26307 ABBA01026420;AC005609;AMYH02012342;AY013875;NG_000016 1731303 D5S546 CNR3;CNRN3;CNRS3;CRNR3;PCDH-PSI4 pseudo HGNC:2163 VALIDATED 1352620 PCDHA10 protocadherin alpha 10 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136312442 136468708 + 140235634 140391929 + 140855883 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;12477932;15372022;16344560;17474147;22589738 56139 Q9Y5I2 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152306;AF152475;AF169689;AMYH02012342;AMYH02012343;BC130447;DA503193;NG_000016;NM_018901;NM_031859;NM_031860 AAC34317;AAD43700;AAD43736;AAF89329;AAI30448;ADR83338;NP_061724;NP_114065;NP_114066;Q9Y5I2 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR8;CNRN8;CNRS8;CRNR8;PCDH-ALPHA10 KIAA0345-like 4;OTTHUMP00000223681;OTTHUMP00000223682;PCDH-alpha-10;ortholog to mouse CNR8;protocadherin alpha-10 APPROVED protein-coding ENSG00000250120 HGNC:8664 07328 606316 REVIEWED 1342552 PCDHA13 protocadherin alpha 13 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136338665 136468708 + 140261854 140391929 + 140882269 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;15372022;20467438;22589738 56136 C9JA99;Q9Y5I0 AB208924;ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152309;AF152478;AMYH02012342;AMYH02012343;CH471062;NG_000016;NM_018904;NM_031865 AAC34314;AAD43703;AAD43739;BAD92161;EAW61986;EAW62008;NP_061727;NP_114071;Q9Y5I0 Hs.199343 1341217;1679145;1718247;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2219464 A004B11;D5S1683E;D5S658;IB766;PCDHA4_1031;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR5;CNRN5;CNRS5;CRNR5;PCDH-ALPHA13 KIAA0345-like 1;OTTHUMP00000160014;OTTHUMP00000205581;OTTHUMP00000205582;PCDH-alpha-13;ortholog of mouse CNR5;protocadherin alpha-13 APPROVED protein-coding ENSG00000239389 HGNC:8667 07554 606319 REVIEWED 1349379 PCDHA11 protocadherin alpha 11 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136324642 136468708 + 140247149 140391932 + 140867513 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;12477932;15372022;16344560;17474147;21139048;22589738 56138 Q9Y5I1 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152307;AF152476;AJ007609;AMYH02012342;AMYH02012343;BC136706;BX111117;CH471062;DB349483;NG_000016;NM_018902;NM_031861 AAC34316;AAD43701;AAD43737;AAI36707;CAC22256;EAW61995;EAW62003;NP_061725;NP_114067;Q9Y5I1 Hs.199343;Hs.624176;Hs.670031 1341217;1679145;1718247;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2219464 A004B11;D5S1683E;D5S658;IB766;PCDHA4_1031;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR7;CNRN7;CNRS7;CRNR7;PCDH-ALPHA11 KIAA0345-like 3;OTTHUMP00000223678;PCDH-alpha-11;ortholog of mouse CNR7;protocadherin alpha-11 APPROVED protein-coding ENSG00000249158 HGNC:8665 07329 606317 REVIEWED 1345752 PCDHA12 protocadherin alpha 12 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136331742 136468708 + 140254931 140391929 + 140875302 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;12477932;1380929;15372022;16303743;17474147;22589738 56137 Q9UN75 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152308;AF152477;AK075556;AMYH02012342;AMYH02012343;AW134813;BC112280;BC113372;DA740785;NG_000016;NM_018903;NM_031864 AAC34315;AAD43702;AAD43738;AAI12281;AAI13373;ADR83261;NP_061726;NP_114070;Q9UN75 Hs.199343;Hs.608548 1341217;1679145;1718247;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2219464 A004B11;D5S1683E;D5S658;IB766;PCDHA4_1031;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T MGC138485;MGC141932;PCDH-ALPHA12 KIAA0345-like 2;OTTHUMP00000223675;PCDH-alpha-12;protocadherin alpha-12 APPROVED protein-coding ENSG00000251664 HGNC:8666 07330 606318 REVIEWED 1315965 PCDHA2 protocadherin alpha 2 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136251221 136468708 + 140174444 140391929 + 140794859 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;12477932;12665801;15372022;15489334;17474147;18976975;22589738;22939629 56146 Q9Y5H9 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152310;AF152480;AMYH02012342;AMYH02012343;BC003126;KF458020;KF458021;KF458022;NG_000016;NM_018905;NM_031495;NM_031496 AAC34324;AAD43704;AAD43741;AAH03126;NP_061728;NP_113683;NP_113684;Q9Y5H9 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T PCDH-ALPHA2 KIAA0345-like 12;OTTHUMP00000223672;PCDH-alpha-2;protocadherin alpha-2 APPROVED protein-coding ENSG00000204969 HGNC:8668 07320 606308 REVIEWED 1352837 PCDHA1 protocadherin alpha 1 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136242652 136468708 + 140165876 140391929 + 140786136 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10737800;10817752;10835267;11230163;15372022;16344560;17474147;18496207;22589738;23204437 56147 Q9Y5I3 ABBA01026419;ABBA01026420;ABBA01026421;ABBA01026422;AC005609;AC008468;AC010223;AF152305;AF152479;AF169695;AMYH02012342;AMYH02012343;BF089693;DA330326;KF458020;KF458021;KF458022;NG_000016;NM_018900;NM_031410;NM_031411 AAC34325;AAD43699;AAD43740;AAF89692;AAI66697;NP_061723;NP_113598;NP_113599;Q9Y5I3 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T PCDH-ALPHA1 KIAA0345-like 13;OTTHUMP00000223677;OTTHUMP00000232596;PCDH-alpha-1;protocadherin alpha-1 APPROVED protein-coding ENSG00000204970 HGNC:8663 07319 606307 REVIEWED 733347 PCDHA4 protocadherin alpha 4 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136263450 136468708 + 140186672 140391929 + 140807074 141012344 + 1580863;6480464;8554872 10380929;10612399;10662547;10716726;10817752;10835267;11230163;12477932;15372022;16169070;22589738 56144 D6RA20;Q59H34;Q9UN74 AB208925;ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152312;AF152482;AMYH02012342;AMYH02012343;AW161561;BC112102;BC113609;KF458020;KF458021;KF458022;NG_000016;NM_018907;NM_031500 AAC34322;AAD43706;AAD43743;AAI12103;AAI13610;ADR83254;BAD92162;NP_061730;NP_113688;Q9UN74 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR1;CNRN1;CRNR1;MGC138307;MGC142169;PCDH-ALPHA4 KIAA0345-like 10;OTTHUMP00000223666;OTTHUMP00000232597;PCDH-alpha-4;ortholog of mouse CNR1;protocadherin alpha-4 APPROVED protein-coding ENSG00000204967 HGNC:8670 07322 606310 REVIEWED 732264 PCDHA3 protocadherin alpha 3 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136257560 136468708 + 140180783 140391929 + 140801198 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;12477932;15372022;17474147;19054571;22589738;23192925 56145 Q9Y5H8 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152311;AF152481;AMYH02012342;AMYH02012343;BC069064;BC129807;KF458020;KF458021;KF458022;NG_000016;NM_018906;NM_031497 AAC34323;AAD43705;AAD43742;AAH69064;AAI29808;NP_061729;NP_113685;Q9Y5H8 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T MGC141669;PCDH-ALPHA3 KIAA0345-like 11;OTTHUMP00000223657;PCDH-alpha-3;protocadherin alpha-3 APPROVED protein-coding ENSG00000255408 HGNC:8669 07321 606309 REVIEWED 1347310 PCDHA5 protocadherin alpha 5 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136278164 136468708 + 140201361 140391929 + 140821776 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;12477932;15372022;15489334;17474147;22589738 56143 Q59H96;Q9Y5H7 AB208863;ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152313;AF152483;AMYH02012342;AMYH02012343;BC033735;KF458020;KF458022;NG_000016;NM_018908;NM_031501 AAC34321;AAD43707;AAD43744;AAH33735;BAD92100;NP_061731;NP_113689;Q9Y5H7 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR6;CNRN6;CNRS6;CRNR6;PCDH-ALPHA5 KIAA0345-like 9;OTTHUMP00000223676;OTTHUMP00000232598;PCDH-alpha-5;ortholog of mouse CNR6;protocadherin alpha-5 APPROVED protein-coding ENSG00000204965 HGNC:8671 07323 606311 REVIEWED 1353324 PCDHA7 protocadherin alpha 7 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136290778 136468708 + 140213969 140391929 + 140834384 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;15372022;17474147;21832049;22589738 56141 Q9UN72 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152315;AF152485;AMYH02012342;AMYH02012343;KF458020;KF458022;NG_000016;NM_018910;NM_031852 AAC34319;AAD43709;AAD43746;AAI48657;AAI56821;AAI56894;NP_061733;NP_114040;Q9UN72 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR4;CNRN4;CNRS4;CRNR4;PCDH-ALPHA7 KIAA0345-like 7;OTTHUMP00000223679;PCDH-alpha-7;ortholog to mouse CNR4;protocadherin alpha-7 APPROVED protein-coding ENSG00000204963 HGNC:8673 07325 606313 REVIEWED 1344704 PCDHA6 protocadherin alpha 6 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136284453 136468708 + 140207650 140391929 + 140827922 141012344 + 1580863;6480464;8554872 10380929;10612399;10662547;10716726;10817752;10835267;11230163;12477932;15372022;15489334;16344560;17474147;21139048;21145461;22589738 56142 Q59GA4;Q9UN73 AB209205;ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152314;AF152484;AF169694;AMYH02012342;AMYH02012343;BC019862;BC036674;BC042887;BC043441;DA069850;KF458020;KF458022;NG_000016;NM_018909;NM_031848;NM_031849 AAC34320;AAD43708;AAD43745;AAF89691;AAH36674;BAD92442;NP_061732;NP_114036;NP_114037;Q9UN73 Hs.199343;Hs.570901;Hs.599714;Hs.621225 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6 KIAA0345-like 8;OTTHUMP00000223649;OTTHUMP00000232599;PCDH-alpha-6;protocadherin alpha-6 APPROVED protein-coding ENSG00000081842 HGNC:8672 07324 606312 REVIEWED 1353050 PCDHAC1 protocadherin alpha subfamily C, 1 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136383115 136468708 + 140306302 140391929 + 140926717 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;12477932;22589738 56135 B2RNA7;Q9H158 AA601497;ABBA01026419;ABBA01026420;AC004776;AC010223;AF152303;AF152473;AJ007608;AMYH02012342;AMYH02012343;AW152471;BC136774;BC136785;CH471062;HY126945;NG_000016;NM_018898;NM_031882 AAD43697;AAD43734;AAI36775;AAI36786;CAC22255;EAW62010;NP_061721;NP_114088;Q9H158 Hs.199343 1341217;1679145;1718247;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2219464 A004B11;D5S1683E;D5S658;IB766;PCDHA4_1031;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T PCDH-ALPHA-C1 OTTHUMP00000160003;OTTHUMP00000205579;protocadherin alpha-C1 APPROVED protein-coding ENSG00000248383 HGNC:8676 07555 606320 REVIEWED 1343466 PCDHA9 protocadherin alpha 9 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136304162 136468708 + 140227357 140391929 + 140847772 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;12477932;15372022;15489334;17474147;22589738;9205841 9752 Q9Y5H5 AB002343;ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152317;AF152487;AJ007610;AK314303;AMYH02012342;AMYH02012343;BC104802;BC104804;KF458020;KF458022;NG_000016;NM_014005;NM_031857 AAC34313;AAD43711;AAD43748;AAI04803;AAI04805;BAA20803;CAC22257;NP_054724;NP_114063;Q9Y5H5 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464;5014051;5015861;5020274;5022578;5022651;5037552;7185938 A004B11;D10S16;D11S2921;D1S1423;D5S1683E;D5S546;D5S658;D8S2278;D8S2279;IB766;L18441;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T KIAA0345;PCDH-ALPHA9 KIAA0345-like 5;OTTHUMP00000223683;PCDH-alpha-9;protocadherin alpha-9 APPROVED protein-coding ENSG00000204961 HGNC:8675 07327 606315 REVIEWED 1346741 PCDHA8 protocadherin alpha 8 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136297714 136468708 + 140220907 140391929 + 140841322 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;12477932;15372022;17474147;22589738 56140 Q9Y5H6 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152316;AF152486;AMYH02012342;AMYH02012343;BC136749;BC136750;KF458020;KF458022;NG_000016;NM_018911;NM_031856 AAC34318;AAD43710;AAD43747;AAI36750;AAI36751;NP_061734;NP_114062;Q9Y5H6 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T PCDH-ALPHA8 KIAA0345-like 6;OTTHUMP00000223650;PCDH-alpha-8;protocadherin alpha-8 APPROVED protein-coding ENSG00000204962 HGNC:8674 07326 606314 REVIEWED 1351100 PCDHACT protocadherin alpha constant ASSOCIATED WITH Melanoma (inferred) 8554872 10380929;10662547 56119 1341217;1679145;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1855133;2143655;2176290;2179543 D5S1683E;D5S658;IB766;PCDHA4_1031;PMC311048P1;RH118816;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T HGNC:8678 1353159 PCDHA@ protocadherin alpha cluster ASSOCIATED WITH Melanoma (inferred) 8554872 10380929;10662547 56117 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T HGNC:8662 1343718 PCDHB10 protocadherin beta 10 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136648780 136652035 + 140571952 140575213 + 141192379 141195640 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12231349;12477932;12975309;14702039;15340161;15489334;22645275;23000965;8619474;9110174 56126 O95883;Q9UN67 ABBA01026417;AC005752;AC244517;AF131761;AF152489;AF217748;AK056391;AY358720;BC031837;NG_000017;NM_018930 AAD20038;AAD43750;AAH31837;AAK51616;AAQ89082;BAG51694;NP_061753;Q9UN67 Hs.657953 1796470 PCDHB10_1506 PCDH-BETA10;PCHB10 OTTHUMP00000160026;PCDH-beta-10;protocadherin beta-10 APPROVED protein-coding ENSG00000120324 HGNC:8681 06954 606336 REVIEWED 1313625 PCDHB13 protocadherin beta 13 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136670333 136673817 + 140593509 140596993 + 141213919 141217421 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12231349;12477932;12975309;14702039;15489334 56123 Q9HAB4;Q9Y5F0 ABBA01026417;AC005752;AC244517;AF152492;AF217745;AK021915;AK292821;AK296151;AY358427;BC033068;BC051348;BC071934;CH471062;DC329454;NG_000017;NM_018933 AAD43753;AAH33068;AAH51348;AAH71934;AAK51613;AAQ88793;BAB13935;BAF85510;BAG58890;EAW61970;NP_061756;Q9Y5F0 Hs.283803 1689330;5014039;5016478;5022576 D1S1361;D22S1584;GDB:434012;RH92538 PCDH-BETA13 OTTHUMP00000160015;PCDH-beta-13;protocadherin beta-13 APPROVED protein-coding HGNC:8684 06957 606339 REVIEWED 1346313 PCDHB11 protocadherin beta 11 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136656170 136659440 + 140578916 140582618 + 141199775 141203045 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12231349;12477932;15489334;19054571;23000965;9182820 56125 Q9Y5F2 AB209225;ABBA01026417;AC005752;AC244517;AF152490;AF217747;AK299719;AK313428;BC112132;BC113611;CH471062;D88795;NG_000017;NM_018931 AAD43751;AAI12133;AAI13612;AAK51615;ADR83269;BAA21565;BAD92462;BAG36220;BAG61619;EAW61972;NP_061754;Q9Y5F2 Hs.283084 5024761;5037552 D8S2279;RH36905 ME2;MGC138337;MGC142171;PCDH-BETA11 OTTHUMP00000160018;PCDH-beta-11;cadherin ME2;protocadherin beta-11 APPROVED protein-coding HGNC:8682 06955 606337 REVIEWED 1318719 PCDHB1 protocadherin beta 1 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136507763 136510296 + 140430979 140433512 + 141051376 141053962 + 1580863;6480464 10380929;10716726;10817752;10835267;11230163;11322959;12477932 29930 Q9Y5F3 AA448114;ABBA01026419;AC010223;AF152488;AMYH02012343;BC112096;BC112098;CH471062;NG_000017;NM_013340 AAD43749;AAI12097;AAI12099;EAW61985;NP_037472;Q9Y5F3 Hs.278950 1796472 PCDHB1__1201 MGC138301;MGC138303;PCDH-BETA1 OTTHUMP00000160027;PCDH-beta-1;protocadherin beta-1 APPROVED protein-coding HGNC:8680 08397 606327 REVIEWED 1346435 PCDHAC2 protocadherin alpha subfamily C, 2 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136422531 136468708 + 140345747 140391929 + 140966162 141012344 + 1580863;6480464;8554872 10380929;10662547;10716726;10817752;10835267;11230163;12477932;14702039;21906983;22589738 56134 Q6P4R2;Q9Y5I4 ABBA01026419;AC010223;AC010233;AF152304;AF152474;AK123867;AMYH02012342;AMYH02012343;BC063288;BC104776;BC105111;CH471062;NG_000016;NM_018899;NM_031883 AAD43698;AAD43735;AAH63288;AAI04777;AAI05112;EAW62000;EAW62005;NP_061722;NP_114089;Q9Y5I4 Hs.199343 1341217;1679145;1718247;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1855133;2143655;2176290;2179543 D5S1683E;D5S658;IB766;PCDHA4_1031;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T MGC71598;PCDH-ALPHA-C2 OTTHUMP00000160007;OTTHUMP00000205580;protocadherin alpha-C2 APPROVED protein-coding ENSG00000243232 HGNC:8677 07331 606321 REVIEWED 1350553 PCDHB12 protocadherin beta 12 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136665115 136668522 + 140587914 140592143 + 141208719 141212126 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12477932;15489334 56124 Q9Y5F1 ABBA01026417;AC005752;AC244517;AF152491;AF217746;AK293336;AK316160;BC045637;CH471062;NG_000017;NM_018932 AAD43752;AAH45637;AAK51614;BAG56852;BAH14531;EAW61971;NP_061755;Q9Y5F1 Hs.429820;Hs.744755 1670044;1700798 D5S2424;RH104024 PCDH-BETA12 OTTHUMP00000160020;PCDH-beta-12;protocadherin beta-12 APPROVED protein-coding ENSG00000120328 HGNC:8683 06956 606338 REVIEWED 1343753 PCDHB16 protocadherin beta 16 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136637807 136642623 + 140560980 140566710 + 141181690 141186221 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;10997877;11230163;11322959;12231349;12477932;12665801;14702039;15489334;9182820 57717 O15199;Q9NRJ7 AB046841;ABBA01026417;AC074130;AC244517;AF217757;AF282973;AI684744;AI926355;AK056460;AY013878;BC036062;CA438727;CH471062;D88794;NG_000017;NM_020957 AAF81914;AAG10030;AAH36062;AAK21988;ABW03744;BAA21564;BAB13447;BAG51717;EAW61975;NP_066008;Q9NRJ7 Hs.147674;Hs.582172 1682127;1797960;5014063 D15S1390;PCDHB16_1917;RH92429 KIAA1621;ME1;PCDH-BETA16;PCDH3X;PCDHB8a OTTHUMP00000160005;PCDH-beta-16;PCDHbeta 16;cadherin ME1;protocadherin beta 8a;protocadherin beta-16;protocadherin-3x APPROVED protein-coding ENSG00000272674 HGNC:14546 06961 606345 REVIEWED 1353169 PCDHB18 protocadherin beta 18 pseudogene ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN homophilic cell adhesion via plasma membrane adhesion molecules (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); choline (ortholog) 5 5 5 q31 136690761 136693926 + 140613936 140617101 + 141234364 141237529 + 1580863;6480464 10380929;10716726;10817752;10835267;11230163;11322959;14702039 54660 Q96TA0 ABBA01026417;AC005752;AC244517;AF152528;AF217743;AK095496;NG_000017;NR_001281 AAK51611;BAG53070;Q96TA0 Hs.676071 PCDH-psi2 pseudo ENSG00000146001 HGNC:14548 PROVISIONAL 1349085 PCDHB19P protocadherin beta 19 pseudogene INTERACTS WITH hydralazine; valproic acid 5 5 5 q31 136696516 136701147 + 140619689 140624320 + 141240121 141244752 + 6480464 10380929;10716726;11230163;11322959 84054 ABBA01026417;AC005752;AC244517;AF329369;AY013876;NG_000017;NR_001282 Hs.570898;Hs.731335 PCDH-PSI5;PCDHB19 pseudo HGNC:14549 VALIDATED 1321168 PCDHB15 protocadherin beta 15 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136701975 136704630 + 140625147 140627802 + 141245349 141248234 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12477932;15489334;23000965 56121 B2R708;Q9Y5E8 ABBA01026417;AC005752;AC244517;AF152494;AF217742;AI473490;AK312794;BC038797;CH471062;NG_000017;NM_018935 AAD43755;AAH38797;AAK51610;ABM84241;ABM87629;BAG35655;EAW61968;NP_061758;Q9Y5E8 Hs.130757 1797958;2131875;2162621 PCDHB15_2562;RH66181;STS-H17959 PCDH-BETA15 OTTHUMP00000160009;PCDH-beta-15;protocadherin beta-15 APPROVED protein-coding HGNC:8686 06959 606341 REVIEWED 1322463 PCDHB14 protocadherin beta 14 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136679902 136682684 + 140603078 140605860 + 141223326 141226288 + 1580863;6480464 10380929;10716726;10817752;10835267;11230163;11322959;12231349;12477932;15489334;16344560;23000965;9182820 56122 Q9Y5E9 ABBA01026417;AC005752;AC244517;AF152493;AF217744;AI206913;AK074555;AK298296;AK301346;BC050417;BC098144;BC099728;CH471062;DA103105;DA320459;NG_000017;NM_018934 AAD43754;AAH98144;AAH99728;AAK51612;BAG60554;BAG62894;EAW61969;NP_061757;Q9Y5E9 Hs.658497 MGC120065;PCDH-BETA14 OTTHUMP00000160019;PCDH-beta-14;protocadherin beta-14 APPROVED protein-coding HGNC:8685 06958 606340 REVIEWED 1316874 PCDHB2 protocadherin beta 2 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136551049 136553776 + 140474195 140476964 + 141094607 141097380 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12231349;12477932;14702039;15489334;16344560;21139048;23000965 56133 Q4KMG6;Q59ER6;Q9Y5E7 AB209745;ABBA01026418;AC005754;AC244517;AF152495;AF217756;AK027526;AK314642;BC098347;BC098575;BE502304;BF206341;CH471062;DA703023;NG_000017;NM_018936 AAD43756;AAH98347;AAH98575;AAK51623;BAD92982;BAG37204;EAW61983;NP_061759;Q9Y5E7 Hs.533023 MGC111392;PCDH-BETA2 OTTHUMP00000160006;PCDH-beta-2;protocadherin beta-2 APPROVED protein-coding HGNC:8687 07558 606328 REVIEWED 1313041 PCDHB3 protocadherin beta 3 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136557046 136560218 + 140480234 140483406 + 141100246 141103822 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12231349;12477932;23000965 56132 Q2M3R2;Q9Y5E6 ABBA01026418;AC005754;AC244517;AF152496;AF217755;AK313451;BC104817;CH471062;HY194184;NG_000017;NM_018937 AAD43757;AAI04818;AAK51622;BAG36239;EAW61981;NP_061760;Q9Y5E6 Hs.508987;Hs.674730 PCDH-BETA3 OTTHUMP00000160022;PCDH-beta-3;protocadherin beta-3 APPROVED protein-coding ENSG00000113205 HGNC:8688 08398 606329 REVIEWED 1346282 PCDHB17 protocadherin beta 17 pseudogene INTERACTS WITH choline (ortholog); folic acid (ortholog); L-methionine (ortholog) 5 5 5 q31 136612393 136614803 + 140535580 140537990 + 141155999 141158409 + 6480464 10380929;10716726;10817752;10835267;11230163;11322959;9182820 54661 Q96T98 ABBA01026417;AC005754;AC244517;AF152527;AF217751;D88797;NG_000017;NR_001280 AAK51618;BAA21567 Hs.284307 1725217 RH118901 ME4;PCDH-psi1 pseudo ENSG00000255622 HGNC:14547 PROVISIONAL 1312238 PCDHB4 protocadherin beta 4 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136578393 136582013 + 140501581 140505201 + 141121750 141125623 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12231349;12477932;15489334;16344560;18029348;21890473 56131 Q9Y5E5 ABBA01026418;AC005754;AC244517;AF152497;AF217754;AK313640;AW135510;BC098139;BC098346;CH471062;DA231000;DA409037;NG_000017;NM_018938 AAD43758;AAH98139;AAH98346;AAK51621;BAG36398;EAW61980;NP_061761;Q9Y5E5 Hs.591250 1789034;2150197 G65651;RH78811 PCDH-BETA4 OTTHUMP00000160017;PCDH-beta-4;protocadherin beta-4 APPROVED protein-coding ENSG00000081818 HGNC:8689 07559 606330 REVIEWED 1351531 PCDHB@ protocadherin beta cluster ASSOCIATED WITH Melanoma (inferred) 8554872 10380929 56116 1670044;1678469;1682127;1685371;1689330;1700798;1703212;1708334;1725217;1789034;1796470;1796472;1797958;1797960;2118805;2131875;2150197;2156409;2162621;2177052 D5S2424;D5S2508;G65651;PCDHB10_1506;PCDHB15_2562;PCDHB16_1917;PCDHB1__1201;RH104024;RH118901;RH47833;RH66181;RH78811;RH80479;RH91958;RH92429;RH92538;SGC32518;SHGC-81568;STS-H17959;WI-21048 HGNC:8679 1349292 PCDHB8 protocadherin beta 8 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136634257 136636848 + 140557371 140560081 + 141177790 141180500 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12477932;16344560;17110338;22082156 56128 Q9UN66 ABBA01026417;AC005754;AC074130;AC244517;AF152501;AF282973;AU119840;BC136801;CH471062;NG_000017;NM_019120 AAD43762;AAG10031;AAI36802;EAW61976;NP_061993;Q9UN66 Hs.283803;Hs.287793 PCDH-BETA8;PCDH3I OTTHUMP00000160021;PCDH-beta-8;protocadherin beta-8;protocadherin-3i APPROVED protein-coding ENSG00000120322 HGNC:8693 07563 606334 REVIEWED 1345982 PCDHB9 protocadherin beta 9 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136643720 136647939 + 140566893 140571111 + 141187127 141191538 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12231349;12477932;15489334;16344560 56127 Q59H00;Q9Y5E1 AB208959;ABBA01026417;AC005752;AC074130;AC244517;AF152502;AF217749;AF282973;BC100672;BC103494;BC105636;BC105640;CH471062;DA726654;NG_000017;NM_019119 AAD43763;AAF81913;AAG10032;AAI00673;AAI03495;AAI05637;AAI05641;BAD92196;EAW61974;NP_061992;Q9Y5E1 Hs.662726 1797960;5015961;5037552 D15S1477;D8S2279;PCDHB16_1917 MGC119555;MGC119556;PCDH-BETA9;PCDH3H PCDH-beta-9;protocadherin beta-9;protocadherin-3h APPROVED protein-coding ENSG00000177839 HGNC:8694 06953 606335 REVIEWED 1314555 PCDHB5 protocadherin beta 5 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136591612 136594516 + 140514800 140517704 + 141135206 141138127 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12231349;12477932;14702039;15489334;16344560;17353931;21139048;23000965 26167 Q9Y5E4 AA481828;AB209393;ABBA01026418;AC005754;AC244517;AF134474;AF152498;AF217753;AK023190;AL117449;BC001186;CH471062;DA389074;NG_000017;NM_015669 AAD43759;AAH01186;AAK51620;AAP97251;ABM82799;ABM85987;BAD92630;CAB55933;EAW61979;NP_056484;Q9Y5E4 Hs.119693 1678469;2177052 RH80479;WI-21048 DKFZp586B0217;PCDH-BETA5 OTTHUMP00000160016;PCDH-beta-5;protocadherin beta-5 APPROVED protein-coding ENSG00000113209 HGNC:8690 07560 606331 REVIEWED 1348571 PCDHG@ protocadherin gamma cluster ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 8554872 10380929 56115 HGNC:8695 1353144 PCDHGA1 protocadherin gamma subfamily A, 1 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136787078 136969282 + 140709388 140892546 + 141330685 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;20379614 56114 Q9Y5H4 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152318;AF152507;AMYH02012344;AMYH02012345;AMYH02012346;BC112082;BC112084;KC877131;NG_000012;NM_018912;NM_031993 AAD43712;AAD43768;AAI12083;AAI12085;NP_061735;NP_114382;Q9Y5H4 Hs.368160 1659064;1682191;1696426;1790741;1790743;1790749;1790775;1796474;1796476;1796478;1797962;1797964;1797966;1797968;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2147111;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_22;5q31-33_24;AF022189;AF022190;AF053066;D11S2062;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA2_2016;PCDHGA3_1505;PCDHGA4_2560;PCDHGA6_2010;PCDHGA9_1502;PCDHGB1__2554;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;SHGC-83354;STS-R97031;T03558 MGC138287;MGC138289;PCDH-GAMMA-A1 OTTHUMP00000224528;protocadherin gamma-A1 APPROVED protein-coding ENSG00000204956 HGNC:8696 07551 606288 REVIEWED 1352537 PCDHGA12 protocadherin gamma subfamily A, 12 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136886980 136969282 + 140810158 140892546 + 141430591 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12975309;18029348;21832049;9199196;9628581 26025 O60330 AB000897;AB011160;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;AC005366;AC005618;AC008781;AF152321;AF152506;AL589367;AMYH02012345;AMYH02012346;AY358946;CH471062;NG_000012;NM_003735;NM_032094 AAD43715;AAD43767;AAI72309;AAQ89305;BAA21135;BAA25514;EAW61945;EAW61961;NP_003726;NP_115265;O60330 Hs.368160 1659064;1682191;1790775;1796478;1797972;2107487;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 CDH21;FIB3;KIAA0588;PCDH-GAMMA-A12 OTTHUMP00000160011;cadherin 21;cadherin-21;fibroblast cadherin FIB3;fibroblast cadherin-3;protocadherin gamma-A12 APPROVED protein-coding ENSG00000253159 HGNC:8699 07538 603059 REVIEWED 1345135 PCDHGA2 protocadherin gamma subfamily A, 2 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136795180 136969282 + 140718354 140892546 + 141338760 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;16344560;20379614 56113 Q9Y5H1 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152322;AF152508;AL536793;AMYH02012344;AMYH02012345;AMYH02012346;BC093871;BC104950;CH471062;DA314472;KC877131;NG_000012;NM_018915;NM_032009 AAD43716;AAD43769;AAH93871;AAI04951;EAW61941;EAW61954;NP_061738;NP_114398;Q9Y5H1 Hs.368160 1659064;1682191;1696426;1790741;1790743;1790749;1790775;1796474;1796476;1796478;1797962;1797964;1797966;1797968;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2147111;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_22;5q31-33_24;AF022189;AF022190;AF053066;D11S2062;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA2_2016;PCDHGA3_1505;PCDHGA4_2560;PCDHGA6_2010;PCDHGA9_1502;PCDHGB1__2554;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;SHGC-83354;STS-R97031;T03558 PCDH-GAMMA-A2 OTTHUMP00000224529;protocadherin gamma-A2 APPROVED protein-coding ENSG00000081853 HGNC:8700 07552 606289 REVIEWED 1349006 PCDHGA11 protocadherin gamma subfamily A, 11 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136877359 136969282 + 140800537 140892546 + 141420970 141512979 + 1580863;6480464;8554872 10380929;10716726;10737800;10817752;10835267;11230163;12477932;15799819;16344560;20388442;21875946;7566098 56105 Q9Y5H2 AA329824;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;AC005366;AC005618;AC008781;AF152320;AF152504;AF152505;AMYH02012345;AMYH02012346;BC136781;BC171774;BE007760;BF327891;CH471062;DA503678;NG_000012;NM_018914;NM_032091;NM_032092 AAD43714;AAD43765;AAD43766;AAI36782;AAI71774;EAW61934;EAW61937;NP_061737;NP_114480;NP_114481;Q9Y5H2 Hs.368160 1659064;1682191;1790775;1796478;1797972;2107487;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A11 OTTHUMP00000225710;OTTHUMP00000225711;protocadherin gamma-A11 APPROVED protein-coding ENSG00000253873 HGNC:8698 09388 606298 REVIEWED 1349153 PCDHGA3 protocadherin gamma subfamily A, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136800426 136969282 + 140723601 140892546 + 141344034 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;20379614 56112 Q59H32;Q9Y5H0 AB208927;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152323;AF152510;AMYH02012344;AMYH02012345;AMYH02012346;BC115408;BC115409;BC133708;CH471062;KC877131;NG_000012;NM_018916;NM_032011 AAD43717;AAD43770;AAI15409;AAI15410;AAI33709;AAI67820;BAD92164;EAW61936;EAW61940;NP_061739;NP_114400;Q9Y5H0 Hs.368160 1659064;1682191;1696426;1790741;1790743;1790749;1790775;1796474;1796476;1796478;1797964;1797966;1797968;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2147111;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_22;5q31-33_24;AF022189;AF022190;AF053066;D11S2062;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA3_1505;PCDHGA4_2560;PCDHGA6_2010;PCDHGA9_1502;PCDHGB1__2554;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;SHGC-83354;STS-R97031;T03558 PCDH-GAMMA-A3 OTTHUMP00000225735;protocadherin gamma-A3 APPROVED protein-coding ENSG00000254245 HGNC:8701 07553 606290 REVIEWED 1317979 PCDHGA10 protocadherin gamma subfamily A, 10 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136869565 136969282 + 140792743 140892546 + 141413176 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932 56106 Q52LL2;Q9Y5H3 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;AC005366;AC005618;AC008781;AF152319;AF152503;AMYH02012345;AMYH02012346;BC014509;BC093873;BC093875;CH471062;NG_000012;NM_018913;NM_032090 AAD43713;AAD43764;AAH93873;AAH93875;EAW61935;EAW61965;NP_061736;NP_114479;Q9Y5H3 Hs.368160 1659064;1682191;1790775;1796478;1797972;2107487;2107489;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A10 OTTHUMP00000224538;protocadherin gamma-A10 APPROVED protein-coding ENSG00000253846 HGNC:8697 09387 606297 REVIEWED 1323670 PCDHGA5 protocadherin gamma subfamily A, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136820723 136969282 + 140743729 140892546 + 141364331 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;9182820 56110 O15201;Q9Y5G8 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152325;AF152512;AMYH02012344;AMYH02012345;AMYH02012346;BC104926;BC113460;CH471062;D88796;KC877131;NG_000012;NM_018918;NM_032054 AAD43719;AAD43772;AAI04927;AAI13461;BAA21566;EAW61938;EAW61947;NP_061741;NP_114443;Q9Y5G8 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797966;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA6_2010;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 CDH-GAMMA-A5;ME3;MGC142020;PCDH-GAMMA-A5 OTTHUMP00000224533;cadherin ME3;protocadherin gamma-A5 APPROVED protein-coding ENSG00000253485 HGNC:8703 09382 606292 REVIEWED 1343927 PCDHGA6 protocadherin gamma subfamily A, 6 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136830476 136969282 + 140749811 140892546 + 141374084 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;22944692 56109 Q59GD1;Q9Y5G7 AB209178;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152326;AF152513;AMYH02012344;AMYH02012345;AMYH02012346;BC109240;BC136702;BC136703;BC146651;CH471062;NG_000012;NM_018919;NM_032086 AAD43720;AAD43773;AAI09241;AAI36703;AAI36704;AAI46652;BAD92415;EAW61929;EAW61931;NP_061742;NP_114475;Q9Y5G7 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797966;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA6_2010;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A6 OTTHUMP00000224534;protocadherin gamma-A6 APPROVED protein-coding ENSG00000253731 HGNC:8704 09383 606293 REVIEWED 1321102 PCDHB6 protocadherin beta 6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136606652 136609682 + 140529839 140532868 + 141150258 141153287 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12231349 56130 F5H446;Q9Y5E3 ABBA01026418;AC005754;AC244517;AF152499;AF217752;AK299661;AK313482;CH471062;NG_000017;NM_018939 AAD43760;AAI48407;AAI52976;AAK51619;BAG36266;BAG61578;EAW61978;NP_061762;Q9Y5E3 Hs.283085 1685371 RH91958 PCDH-BETA6 OTTHUMP00000160023;PCDH-beta-6;protocadherin beta-6 APPROVED protein-coding ENSG00000113211 HGNC:8691 07561 606332 REVIEWED 1345022 PCDHGA9 protocadherin gamma subfamily A, 9 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136859342 136969282 + 140782520 140892546 + 141402953 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932 56107 Q9Y5G4 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;AC005366;AC005618;AC008781;AF152329;AF152516;AMYH02012345;AMYH02012346;BC132769;CH471062;NG_000012;NM_018921;NM_032089 AAD43723;AAD43776;AAI32770;EAW61958;EAW61960;NP_061744;NP_114478;Q9Y5G4 Hs.368160 1659064;1682191;1790775;1796476;1796478;1797972;2107487;2107489;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA9_1502;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A9 protocadherin gamma-A9 APPROVED protein-coding ENSG00000261934 HGNC:8707 09386 606296 REVIEWED 1351804 PCDHGA4 protocadherin gamma subfamily A, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136811593 136969282 + 140734768 140892546 + 141355025 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;16344560 56111 Q9Y5G9 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152324;AF152511;AI805761;AL832028;AMYH02012344;AMYH02012345;AMYH02012346;BX100615;CH471062;DA392480;KC877131;NG_000012;NM_018917;NM_032053 AAD43718;AAD43771;AAI52813;AAI56731;EAW61957;EAW61964;NP_061740;NP_114442;Q9Y5G9 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797964;1797966;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA4_2560;PCDHGA6_2010;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A4 protocadherin gamma-A4 APPROVED protein-coding ENSG00000262576 HGNC:8702 09381 606291 REVIEWED 1346439 PCDHGB2 protocadherin gamma subfamily B, 2 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136816528 136969282 + 140739409 140892546 + 141360136 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;23824909 56103 Q9Y5G2 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152331;AF152518;AMYH02012344;AMYH02012345;AMYH02012346;BC101805;CH471062;KC877131;NG_000012;NM_018923;NM_032096 AAD43725;AAD43778;AAI01806;EAW61939;EAW61950;NP_061746;NP_115267;Q9Y5G2 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797966;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA6_2010;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 MGC126854;PCDH-GAMMA-B2 OTTHUMP00000224532;protocadherin gamma-B2 APPROVED protein-coding ENSG00000253910 HGNC:8709 09390 606300 REVIEWED 1312946 PCDHGA7 protocadherin gamma subfamily A, 7 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136839290 136969282 + 140762467 140892546 + 141382739 141512979 + 1580863;6480464;8554872 10380929;10716726;10737800;10817752;10835267;11230163;12477932;16344560;20467438 56108 Q59H01;Q9Y5G6 AB208958;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152327;AF152514;AMYH02012345;AMYH02012346;BC136747;BC136748;BF365422;CH471062;DA287863;NG_000012;NM_018920;NM_032087 AAD43721;AAD43774;AAI36748;AAI36749;BAD92195;EAW61943;EAW61963;NP_061743;NP_114476;Q9Y5G6 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A7 OTTHUMP00000224535;protocadherin gamma-A7 APPROVED protein-coding ENSG00000253537 HGNC:8705 09384 606294 REVIEWED 1343116 PCDHGB3 protocadherin gamma subfamily B, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136826787 136969282 + 140749962 140892546 + 141370395 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932 56102 Q9Y5G1 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152332;AF152519;AMYH02012344;AMYH02012345;AMYH02012346;BC150172;CH471062;KC877131;NG_000012;NM_018924;NM_032097 AAD43726;AAD43779;AAI50173;EAW61951;NP_061747;NP_115268;Q9Y5G1 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797966;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA6_2010;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-B3 protocadherin gamma-B3 APPROVED protein-coding ENSG00000262209 HGNC:8710 09391 606301 REVIEWED 1321718 PCDHGA8 protocadherin gamma subfamily A, 8 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136848307 136969282 + 140767059 140892546 + 141391916 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;9205841 9708 Q9Y5G5 AB002325;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152328;AF152515;AMYH02012345;AMYH02012346;BC152415;CH471062;NG_000012;NM_014004;NM_032088 AAD43722;AAD43775;AAI52416;AAI60101;BAA20785;EAW61932;EAW61942;NP_054723;NP_114477;Q9Y5G5 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885;5015619;5022651 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D11S2921;D11S3114;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA9_1502;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 KIAA0327;PCDH-GAMMA-A8 OTTHUMP00000225708;protocadherin gamma-A8 APPROVED protein-coding ENSG00000253767 HGNC:8706 09385 606295 REVIEWED 1349950 PCDHGB1 protocadherin gamma subfamily B, 1 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136806653 136969282 + 140729828 140892546 + 141350261 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932 56104 Q3SY74;Q9Y5G3 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152330;AF152517;AMYH02012344;AMYH02012345;AMYH02012346;BC103926;BC103927;BC103928;CH471062;KC877131;NG_000012;NM_018922;NM_032095 AAD43724;AAD43777;AAI03927;AAI03928;AAI03929;EAW61952;EAW61955;NP_061745;NP_115266;Q9Y5G3 Hs.368160 1659064;1682191;1696426;1790741;1790743;1790775;1796476;1796478;1797964;1797966;1797968;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2147111;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D11S2062;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA4_2560;PCDHGA6_2010;PCDHGA9_1502;PCDHGB1__2554;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;SHGC-83354;STS-R97031;T03558 MGC119466;MGC119467;MGC119469;PCDH-GAMMA-B1 OTTHUMP00000224531;protocadherin gamma subfamily B, 1, isoform 2;protocadherin gamma-B1 APPROVED protein-coding ENSG00000254221 HGNC:8708 09389 606299 REVIEWED 1351676 PCDHGB4 protocadherin gamma subfamily B, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136844276 136969282 + 140767452 140892546 + 141387885 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;9199196 8641 Q9UN71 AB000896;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152333;AF152520;AMYH02012345;AMYH02012346;BC112088;BC113607;CH471062;NG_000012;NM_003736;NM_032098 AAD43727;AAD43780;AAI12089;AAI13608;BAA21134;EAW61924;EAW61927;NP_003727;NP_115269;Q9UN71 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 CDH20;FIB2;MGC138293;MGC142167;PCDH-GAMMA-B4 OTTHUMP00000224536;cadherin 20;cadherin-20;fibroblast cadherin FIB2;fibroblast cadherin-2;protocadherin gamma-B4 APPROVED protein-coding ENSG00000253953 HGNC:8711 07215 603058 REVIEWED 1316625 PCDHGB5 protocadherin gamma subfamily B, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136854517 136969282 + 140777695 140892546 + 141398128 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;19199708 56101 Q9Y5G0 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;AC005366;AC005618;AC008781;AF152334;AF152521;AMYH02012345;AMYH02012346;BC093877;BC093879;CH471062;NG_000012;NM_018925;NM_032099 AAD43728;AAD43781;AAH93877;AAH93879;EAW61922;EAW61948;NP_061748;NP_115270;Q9Y5G0 Hs.368160 1659064;1682191;1790775;1796476;1796478;1797972;2107487;2107489;2113570;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA9_1502;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-B5 protocadherin gamma-B5 APPROVED protein-coding ENSG00000276547 HGNC:8712 09392 606302 REVIEWED 1347513 PCDHGB6 protocadherin gamma subfamily B, 6 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136864592 136969282 + 140787588 140892546 + 141408203 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;24081945 56100 Q9H349;Q9Y5F9 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;AC005366;AC005618;AC008781;AF152335;AF152522;AMYH02012345;AMYH02012346;CH471062;NG_000012;NM_018926;NM_032100 AAD43729;AAD43782;AAI56638;EAW61928;EAW61933;NP_061749;NP_115271;Q9Y5F9 Hs.368160 1659064;1682191;1790775;1796478;1797972;2107487;2107489;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-B6 OTTHUMP00000224537;protocadherin gamma-B6 APPROVED protein-coding ENSG00000253305 HGNC:8713 09393 606303 REVIEWED 1348107 PCDHGB8P protocadherin gamma subfamily B, 8 pseudogene INTERACTS WITH choline (ortholog); folic acid (ortholog); L-methionine (ortholog) 5 5 5 q31 136882675 136884647 + 140805853 140807825 + 141426286 141428258 + 6480464 10380929;10716726;10817752;10835267;11230163;20210993 56120 ABBA01026415;AC005618;AF152529;AMYH02012345;NG_000012;NR_001297 Hs.672506 PCDH-PSI3 pseudo HGNC:8715 PROVISIONAL 1344386 PCDHGB7 protocadherin gamma subfamily B, 7 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136874104 136969282 + 140797214 140892548 + 141417647 141512981 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;15489334;9182820 56099 O15203;Q9Y5F8 AA418589;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;AC005366;AC005618;AC008781;AF152336;AF152523;AMYH02012345;AMYH02012346;AW057773;BC051788;CH471062;D88799;NG_000012;NM_018927;NM_032101 AAD43730;AAD43783;AAH51788;BAA21569;EAW61923;EAW61944;NP_061750;NP_115272;Q9Y5F8 Hs.368160 1659064;1682191;1790775;1796478;1797972;2107487;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 ME6;PCDH-GAMMA-B7 OTTHUMP00000225709;cadherin ME6;protocadherin gamma-B7 APPROVED protein-coding ENSG00000254122 HGNC:8714 06952 606304 REVIEWED 1344510 PCDHGB9P protocadherin gamma subfamily B, 9 pseudogene 5 5 5 q31 136896508 136898811 + 140819690 140821993 + 141440123 141442426 + 10380929;10716726;11230163 84055 ABBA01026412;ABBA01026413;AC005618;AMYH02012345;AY013877;NG_000012 PSI6 pseudo HGNC:15688 VALIDATED 1349122 PCDHGCT protocadherin gamma constant 10380929 56118 HGNC:8719 1353179 PCDHGC5 protocadherin gamma subfamily C, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136945627 136969282 + 140868808 140892546 + 141489241 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;18029348;21832049 56097 Q2M272;Q9Y5F6 ABBA01026410;AC005366;AC008781;AF152339;AF152526;AMYH02012346;BC112081;BC112083;CH471062;NG_000012;NM_018929;NM_032407 AAD43733;AAD43786;AAI12082;AAI12084;EAW61953;EAW61956;NP_061752;NP_115783;Q9Y5F6 Hs.368160 1682191;2107487;2151044;2167555;2183885 AF022190;PCDHGA10_7046;RH91455;SHGC-76190;T03558 MGC138286;MGC138288;PCDH-GAMMA-C5 OTTHUMP00000160024;protocadherin gamma-C5 APPROVED protein-coding ENSG00000240764 HGNC:8718 07318 606306 REVIEWED 1349055 PCDHGC3 protocadherin gamma subfamily C, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136932388 136969282 + 140855569 140892546 + 141476002 141512977 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;15489334;16751190;18029348;21139048;21832049;21988832;22249255;8508762;8719883;9360932;9865466 5098 Q9BR81;Q9UN70 ABBA01026410;AC005366;AC008781;AF052683;AF052684;AF052685;AF119570;AF152337;AF152524;AMYH02012345;AMYH02012346;BC004321;BC006439;BC019299;BC026218;BC027451;BC027470;BC063437;BG765565;CH471062;L11371;L11373;NG_000012;NM_002588;NM_032402;NM_032403 AAA36420;AAA75391;AAC08350;AAD43731;AAD43784;AAF03087;AAH04321;AAH06439;AAH19299;AAH26218;AAH27451;AAH27470;AAH63437;ABM84395;ABM87353;EAW61959;EAW61962;NP_002579;NP_115778;NP_115779;Q9UN70 Hs.368160 1682191;1796478;1797972;2107487;2151044;2167555;2183885;5126448 AF022190;PCDHGA10_7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;T03558;WI-7264 PC43;PCDH-GAMMA-C3;PCDH2 OTTHUMP00000160013;cadherin-like 2;protocadherin 2;protocadherin 43;protocadherin gamma-C3;protocadherin-2;protocadherin-43 APPROVED protein-coding ENSG00000240184 HGNC:8716 04693 603627 REVIEWED 1602665 PCED1B PC-esterase domain containing 1B This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 12 12 12 q13.11 46407103 46427485 + 47473386 47630446 + 47079603 47236663 + 6480464;8554872 12477932;17207965;20056006;21044367 91523 F8VRF7;F8VUD2;F8VYL8;Q96HM7 ABBA01031461;ABBA01031462;ABBA01031463;ABBA01031464;AC004010;AC008083;AC119044;AMYH02026412;BC008360;BC016154;BC072670;BM545125;CH471111;CR985281;KF455641;NM_001281429;NM_138371;XM_005269224;XM_005269226;XM_005269228;XM_006719690;XM_006719691 AAH08360;AAH16154;ADQ31777;ADZ16086;EAW57925;EAW57926;EAW57927;EAW57928;NP_001268358;NP_612380;Q96HM7;XP_005269281;XP_005269283;XP_005269285;XP_006719753;XP_006719754 Hs.560100 1712524 G54267 FAM113B;MGC16044 OTTHUMP00000241695;PC-esterase domain-containing protein 1B;family with sequence similarity 113, member B;hypothetical protein LOC91523 APPROVED protein-coding ENSG00000179715 HGNC:28255 17513 REVIEWED 1314071 PCDHB7 protocadherin beta 7 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008] 5 5 5 q31 136629070 136632784 + 140552243 140555957 + 141172621 141176376 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;11322959;12477932;16344560;23000965;8125298 56129 Q9Y5E2 ABBA01026417;AC005754;AC244517;AF152500;AF217750;AK024641;AK222560;AK222678;AK315054;AL834254;BC098574;BC130331;BC130333;CH471062;DA779188;NG_000017;NM_018940 AAD43761;AAH98574;AAI30332;AAI30334;AAK51617;ADR83114;BAD96280;BAD96398;BAG37530;CAD38929;EAW61977;NP_061763;Q9Y5E2 Hs.203830 1708334 SHGC-81568 MGC111391;MGC163205;PCDH-BETA7 OTTHUMP00000160008;PCDH-beta-7;protocadherin beta-7 APPROVED protein-coding ENSG00000113212 HGNC:8692 07562 606333 REVIEWED 1346387 PCDHGC4 protocadherin gamma subfamily C, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136941560 136969282 + 140864741 140892546 + 141485174 141512979 + 1580863;6480464;8554872 10380929;10716726;10817752;10835267;11230163;12477932;18029348 56098 A4FU17;Q9Y5F7 ABBA01026410;AC005366;AC008781;AF152338;AF152525;AMYH02012346;BC042650;BC101035;BC101036;BC101038;CH471062;NG_000012;NM_018928;NM_032406 AAD43732;AAD43785;AAI01036;AAI01037;AAI01039;EAW61946;EAW61949;NP_061751;NP_115782;Q9Y5F7 Hs.368160 1682191;1797972;2107487;2151044;2167555;2183885 AF022190;PCDHGA10_7046;PCDHGC4_2483;RH91455;SHGC-76190;T03558 MGC119489;MGC24978;PCDH-GAMMA-C4 OTTHUMP00000160025;protocadherin gamma-C4 APPROVED protein-coding ENSG00000242419 HGNC:8717 07317 606305 REVIEWED 1318837 PCED1A PC-esterase domain containing 1A The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012] 20 20 20 p13 2877226 2882587 - 2815960 2821889 - 2835314 2841243 - 6480464 11780052;12477932;12601173;14702039;15489334;15522763;16189514;16344560;17353931;20056006 64773 Q9H1Q7;S4R3X0;X6RC47;X6RFT7 AA769290;ABBA01053799;AK026029;AK056353;AK124917;AK126535;AK293638;AL161656;AL442086;AMYH02036588;AY211913;BC008864;BC014247;BC037240;BC051816;BE302577;CH471133;DB276752;DC421675;NM_001271168;NM_022760;XM_005260804;XM_005260805;XM_005260806;XM_006723609;XR_244222 AAH08864;AAH14247;AAH37240;AAH51816;AAO65166;BAB15328;BAB71160;BAG57093;EAX10567;EAX10568;EAX10569;EAX10570;EAX10571;EAX10572;NP_001258097;NP_073597;Q9H1Q7;XP_005260861;XP_005260862;XP_005260863;XP_006723672 Hs.29341;Hs.743644 1657443;1657445 SHGC-34256;STS-R73406 C20orf81;DKFZp547L054;FAM113A;FLJ22376;bA12M19.1 OTTHUMP00000030057;OTTHUMP00000030058;OTTHUMP00000030059;OTTHUMP00000030061;PC-esterase domain-containing protein 1A;chromosome 20 open reading frame 81;family with sequence similarity 113, member A;hypothetical protein LOC64773;sarcoma antigen NY-SAR-23 APPROVED protein-coding ENSG00000132635 HGNC:16212 12786 REVIEWED 6484507 PCED1CP PC-esterase domain containing 1C, pseudogene 2 2 2 q34 207461281 207462045 + 213696885 213697649 + 212832161 212832925 + 11181995 646249 ABBA01062766;AC093381;AMYH02005712;CH471063;NG_022894 EAW70501 pseudo HGNC:44083 INFERRED 2293808 PCGEM1 PCGEM1, prostate-specific transcript (non-protein coding) 2 2 2 q32 187209385 187236440 + 193614571 193641625 + 192749845 192776899 + 11050243;14724589;16569192;19186008;20407466;21112873;21926974;23453885;23459097;23945587 64002 ABBA01062411;AC013401;AF223389;AMYH02005465;HG495079;HG495080;HG975429;NR_002769 Hs.546994 LINC00071;NCRNA00071;PCAT9 APPROVED ncrna ENSG00000227418 HGNC:30145 605443 PROVISIONAL 1349943 PCGF1 polycomb group ring finger 1 PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008] 2 2 2 p13.1 74563334 74565985 - 74732170 74735707 - 74505043 74508580 - 737633;1580863;6480464;9479058;9479060 12477932;23473600;25065329 11287196;15315754;15489334;15620699;16189514;16751776;16943429;17088287;17207965;18029348;18976975;19690564;20431927;21139048;21282530;21890473;21906983;22325352;22493164;22939624;23395003;23523425;24250222;24457600 84759 Q9BSM1 ABBA01075602;AC005041;AF087884;AK125742;AL049296;AMYH02004091;BC004952;BU602498;CH471053;NM_032673;XM_005264616;XM_005264617;XM_005264618 AAH04952;AAP97183;ADQ31892;EAW99632;EAW99633;NP_116062;Q9BSM1;XP_005264673;XP_005264674;XP_005264675 Hs.316750 1675630;1687203 RH80457;RH99023 2010002K04Rik;FLJ43754;MGC10882;NSPC1;RNF3A-2;RNF68 OTTHUMP00000160412;RING finger protein 68;nervous system Polycomb-1;polycomb group RING finger protein 1 APPROVED protein-coding HGNC:17615 11404 610231 VALIDATED 6767512 PCED1B-AS1 PCED1B antisense RNA 1 INTERACTS WITH paraoxon 12 12 12 q13.11 46399256 46407277 - 47602203 47610226 - 47208420 47216443 - 6480464 14702039;16344560 100233209 AA213858;ABBA01031463;ABBA01031464;AC008083;AK123977;AMYH02026412;DA925061;NR_026544 Hs.657722 5020948;5022450;5022578;5109281 D10S275;D1S1423;D1S1425;G35510 APPROVED ncrna ENSG00000247774 HGNC:44166 VALIDATED 1344033 PCGF3 polycomb group ring finger 3 The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 654586 701073 + 699537 764428 + 705748 770640 + 6480464;9479058;9479060 23473600;25065329 12477932;14702039;15489334;16344560;21139048;21282530;22325352;22443383;22493164;22939624;23455922;23523425;24250222;24457600;8125298 10336 B3KWT8;B5MEC4;C9J3G7;C9JGV3;C9JYD0;F2Z3P3;Q3KNV8 AA401257;ABBA01019338;ABBA01019339;AC107464;AC139887;AK057124;AK125801;AK225892;AK300290;AL359562;AL832536;AMYH02008559;AMYH02008560;AMYH02008561;AU132917;BC028026;BC050044;BC061897;BC107061;BI758022;BQ882065;BX640894;BX648409;CA454695;CH471131;CX761238;CX761943;KF510870;NM_006315;XM_005272250;XM_005272252;XM_005272253;XM_005272254;XM_006713852;XM_006713853;XM_006713854 AAI07062;BAG51868;BAG54250;BAG62047;CAD38631;EAW82651;EAW82652;EAW82653;EAW82654;EAW82655;EAW82656;NP_006306;Q3KNV8;XP_005272307;XP_005272309;XP_005272310;XP_005272311;XP_006713915;XP_006713916;XP_006713917 Hs.144309;Hs.731755 1644867;1650175;1712659;1789260;1857439;2118777;2145017;2169393;2181847;2184766;5094060;5124227 A006I29;G34948;G65725;RH121994;RH66980;SGC31069;SHGC-24018;SHGC-59165;SHGC-59717;SHGC-67595;SHGC-67747;SHGC-67755 DKFZp686D20235;DONG1;FLJ36550;FLJ43813;MGC129615;MGC40413;RNF3;RNF3A OTTHUMP00000147527;OTTHUMP00000197624;RING finger protein 3A;polycomb group RING finger protein 3;ring finger protein 3 APPROVED protein-coding ENSG00000185619 HGNC:10066 11515 REVIEWED 1351153 PCGF5 polycomb group ring finger 5 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN centrosome; nucleolus; nucleus; INTERACTS WITH (-)-demecolcine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 10 10 10 q23.32 86726325 86789872 + 92922769 93044088 + 91163001 91284331 + 737633;6480464;9479058;9479060;8554872 12477932;23473600;25065329 11076863;11230166;11256614;14702039;15489334;15489336;16381901;16385451;19273555;21139048;21282530;21859857;22325352;22493164;23455922;23455924;24457600;8076819 84333 Q86SE9 ABBA01021928;ABBA01021929;ABBA01021930;AC026227;AK055625;AK303014;AL731553;AL832003;AL832496;AMYH02023522;BC007377;BC044910;BC051845;BI464238;BQ420347;BY994354;CB266840;CH471066;NM_001256549;NM_001257101;NM_032373;NR_046310;NR_046435;XM_006718027;XM_006718028;XM_006718029;XM_006718030;XM_006718031 AAH07377;AAH51845;BAH13878;CAD89905;CAD91165;CAL38502;EAW50112;EAW50113;EAW50114;NP_001243478;NP_001244030;NP_115749;Q86SE9;XP_006718090;XP_006718091;XP_006718092;XP_006718093;XP_006718094 Hs.500512 1689718;1706720;2157805 RH48822;RH80111;SHGC-81180 MGC16202;RNF159 OTTHUMP00000020085;RING finger protein 159;polycomb group RING finger protein 5;ring finger protein (C3HC4 type) 159 protein-coding ENSG00000180628 HGNC:28264 17825 VALIDATED 1350962 PCGF7P polycomb group ring finger 7 pseudogene 19 19 19 p12 22153028 22155150 + 22320726 22322900 + 22137924 22140098 + 253272 ABBA01051403;AC073539;AMYH02035819;NG_003076 1798098 RNF134_1836 RNF134P1 pseudo HGNC:30341 INFERRED 1353848 PCGF6 polycomb group ring finger 6 The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q24.33 98802479 98850828 - 105062553 105110891 - 103302796 103351134 - 6480464;9479058;9479060 23473600;25065329 11171983;12004135;12167161;12183370;12477932;14702039;15164054;15489334;16248985;17320162;18211895;18519679;19322201;19549727;19636380;20211142;20946988;21139048;21282530;21596310;21890473;22325352;22493164;22939624;23000965;23105109;23974872;24250222;24457600;8521824 84108 Q9BYE7 AB047006;ABBA01063106;ABBA01063107;ABBA01063108;ABBA01063109;ABBA01063110;ABBA01063111;AK027885;AK290679;AK309105;AL591408;AMYH02023723;BC007602;BC010235;CH471066;NM_001011663;NM_032154;XM_005270213;XR_428723;XR_428724 AAH07602;AAH10235;ABZ92150;ABZ92535;BAB40779;BAF83368;EAW49647;EAW49648;EAW49649;EAW49650;EAW49651;EAW49652;NP_001011663;NP_115530;Q9BYE7;XP_005270270 Hs.335808 1689235;1739571;1798098;2148577 D10S1616;RH11491;RNF134_1836;SHGC-34357 MBLR;MGC15678;MGC17541;RNF134 Mel18 and Bmi1-like RING finger protein;OTTHUMP00000020394;OTTHUMP00000020395;polycomb group RING finger protein 6;ring finger protein 134 APPROVED protein-coding ENSG00000156374 HGNC:21156 07427 607816 REVIEWED 1352511 PCGF2 polycomb group ring finger 2 The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq, Jul 2008] 17 17 17 q12 33551109 33565516 - 36890150 36906070 - 38733897 38749817 - 6480464;9479058;9479060 23473600;25065329 11076863;11230166;11520462;11750047;12167701;12183370;12196719;12477932;15489334;15489336;16182291;16248985;16344560;16381901;16624538;17145810;17151361;17452456;17545584;17672918;17936708;18211895;18706886;19322201;19395284;19585577;19636380;19690564;19727227;20170541;20211142;20444850;20601937;20717685;20801102;21059209;21139048;21162745;21282530;21602890;21890473;21988832;22085718;22325352;22493164;22844243;22954590;23474752;23523425;24457600;8325509 7703 J3KT13;P35227 ABBA01031903;AC006449;AMYH02033362;AU123693;BC004858;BC024255;BX647429;CA421781;CH471152;CS065980;D13969;NM_007144;XM_005257640;XM_005257641;XM_005257642;XM_006722071;XM_006725342;XM_006725343;XM_006725344;XM_006725345 AAH04858;AAH24255;BAA03074;CAI84554;CAL37647;EAW60527;EAW60528;EAW60529;EAW60530;NP_009075;P35227;XP_005257697;XP_005257698;XP_005257699;XP_006722134;XP_006725405;XP_006725406;XP_006725407;XP_006725408 Hs.371617;Hs.713595 1695726;1778508;1852458;2154058;2156319;2189515 A007D13;G73130;RH12584;RH17373;RH78331;SHGC-82631 MEL-18;MGC10545;RNF110;ZNF144 DNA-binding protein Mel-18;polycomb group RING finger protein 2;ring finger protein 110;zinc finger protein 144 APPROVED protein-coding ENSG00000277258 HGNC:12929 10621 600346 REVIEWED 1604812 PCF11 PCF11 cleavage and polyadenylation factor subunit INVOLVED IN gene expression (inferred); mRNA 3'-end processing (inferred); mRNA splicing, via spliceosome (inferred); PARTICIPATES IN mRNA decay pathway; FOUND IN nucleoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; arsenous acid 11 11 11 q13 80177801 80206501 + 82868137 82896836 + 83157095 83185794 + 6480464;6907045 10048485;11060040;12226669;12477932;15302935;15489334;16159877;16344560;17081983;17606639;18086705;19110458;19471022;20360068;21139048;22751105;22939629;23251661;23326517;24332808;24816145 51585 E9PKN0;E9PNY7;E9PQ01;E9PQF9;O94913 AB020631;ABBA01017363;ABBA01017364;ABBA01017365;AF046935;AF086097;AK025103;AK302606;AMYH02025190;AMYH02025191;AP000873;BC065384;BC110432;BC146778;CH471076;DB053362;NM_015885;XM_005274048;XM_005274049 AAC03107;AAH65384;AAI10433;AAI46779;BAA74847;BAH13760;EAW75083;EAW75084;NP_056969;O94913;XP_005274105;XP_005274106 Hs.128959;Hs.731825 1656405;1670435;1856684;2121016;2149337;2185260;2191115;2219466;5021698 A007H35;MARC_14809-14810:1017254905:1;PCF11__5837;RH11546;RH46125;RH46173;RH78058;WI-11852;ksks262 KIAA0824 OTTHUMP00000234826;PCF11, cleavage and polyadenylation factor II subunit, homolog;PCF11, cleavage and polyadenylation factor subunit, homolog;PCF11p homolog;pre-mRNA cleavage complex 2 protein Pcf11;pre-mRNA cleavage complex II protein Pcf11 APPROVED protein-coding HGNC:30097 10592 608876 VALIDATED 1601857 PCID2 PCI domain containing 2 PCID2 is expressed in immature and early-stage B lymphocytes and regulates expression of the mitotic checkpoint protein MAD2 (MAD2L1; MIM 601467) (Nakaya et al., 2010 [PubMed 20870947]).[supplied by OMIM, Jan 2011] 13 13 13 q34 94658168 94689275 - 113831853 113863335 - 113177539 113209466 - 6480464 12477932;14702039;15057823;15342556;15489334;15592455;16189514;16196087;16239144;16344560;17353931;17672918;18729074;20870947;21139048;21145461;21890473;21906983;21963094;21987572;22343721;22505724;23443559;24167073;24291146;24515614;24654937;24816145;25027693;8889548 55795 Q5JVF3 AA779868;ABBA01019863;AF183426;AI272719;AK000888;AK001185;AK001302;AK002167;AK023313;AK024478;AK098706;AK289462;AK309321;AL136221;AL137002;AMYH02028739;BC008975;BC016614;BC031246;BM932149;BP244753;CH471085;DA058550;NM_001127202;NM_001127203;NM_001258212;NM_001258213;NM_018386;XM_005268324;XM_005268325;XM_006719976 AAG09695;AAH08975;AAH16614;AAH31246;BAA91407;BAA91542;BAA91611;BAA92118;BAB14521;BAB15768;BAF82151;EAX09189;EAX09190;EAX09191;EAX09192;EAX09193;EAX09194;EAX09195;EAX09196;EAX09197;EAX09198;EAX09199;EAX09200;NP_001120674;NP_001120675;NP_001245141;NP_001245142;NP_060856;Q5JVF3;XP_005268381;XP_005268382;XP_006720039 Hs.508769 1855208 SHGC-31881 DKFZp686C20226;F10;FLJ11305;FLJ99362;MGC16774;RP11-98F14.6 CSN12-like protein;OTTHUMP00000018755;OTTHUMP00000018756;OTTHUMP00000018757;OTTHUMP00000018758;OTTHUMP00000018759;OTTHUMP00000018760;OTTHUMP00000018761;PCI domain-containing protein 2 APPROVED protein-coding ENSG00000126226 HGNC:25653 07749 613713 VALIDATED 1321911 PCIF1 PDX1 C-terminal inhibiting factor 1 INVOLVED IN negative regulation of phosphatase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN intercellular bridge; microtubule cytoskeleton; nucleus; INTERACTS WITH arsane; arsenic atom; atrazine 20 20 20 q13.12 41274773 41288119 + 44563313 44576732 + 45934678 45948023 + 6480464;8554872 11780052;12477932;12565871;14702039;15121856;15489334;17126328;18029348;18294453;19060906;19389623;19682092;21832049;24250222;24816145 63935 B7Z5U5;Q9H4Z3 AB050014;ABBA01052672;ABBA01052673;AK056553;AK299435;AL137473;AL162458;AMYH02037154;AMYH02037155;BC010005;BC013365;BQ020621;BQ684226;CH471077;NM_022104 AAH10005;AAH13365;ACE87073;ACE87754;BAC45238;BAH13031;CAB70757;EAW75778;EAW75779;EAW75780;NP_071387;Q9H4Z3 Hs.472856 1696538;2141139 SHGC-78139;STS-Z40713 C20orf67;PPP1R121 OTTHUMP00000031193;PDX-1 C terminus-interacting factor 1;phosphorylated CTD-interacting factor 1 protein-coding ENSG00000100982 HGNC:16200 12779 VALIDATED 1353280 PCDH15 protocadherin-related 15 This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008] 10 10 10 q21.1 48825500 49824287 - 55562531 56561051 - 53802771 54801291 - 1580863;6480464;7240710;8547667;8547671;8547536;8554872;8699517 19804752;20212494;22177415 11138007;11398101;11487575;12711741;14570705;15028842;15537665;15660226;16369489;16385451;16679490;16807332;16887306;17277737;17706913;17903293;18463160;18484607;18519826;18719945;19107147;19183343;19240061;19816713;19913121;20182759;20201926;20301442;20301607;20379614;20467438;20538994;20628086;20801516;20966902;22424883;22542470;22690115;22815625;23400010;24025145;24618850;24797007 65217 A2A3D8;A2A3D9;A2A3E1;A2A3E2;A2A3E3;A2A3E4;A2A3E5;A2A3E6;A2A3E7;A2A3E8;A9Z1W1;B7ZBT8;C9J4F3;E7EM53;E7EM97;E7EMG0;E7EMG8;F8WCD8;Q96QU1 ABBA01019393;ABBA01019394;ABBA01019395;ABBA01019396;ABBA01019397;ABBA01019398;ABBA01019399;ABBA01019400;ABBA01019401;ABBA01019402;ABBA01019403;ABBA01019404;ABBA01019405;ABBA01019406;AC013737;AC016817;AC024073;AC027671;AC051618;AK126923;AL353784;AL356114;AL360214;AL365496;AL391356;AL834134;AMYH02023107;AMYH02023108;AMYH02023109;AMYH02023110;AMYH02023111;AMYH02023112;AMYH02023113;AMYH02023114;AMYH02023115;AMYH02023116;AMYH02023117;AMYH02023118;AMYH02023119;AMYH02023120;AMYH02023121;AMYH02023122;AMYH02023123;AW005431;AY029205;AY029237;AY388963;CH471083;EU718480;EU718481;EU718482;KF455239;NG_009191;NM_001142763;NM_001142764;NM_001142765;NM_001142766;NM_001142767;NM_001142768;NM_001142769;NM_001142770;NM_001142771;NM_001142772;NM_001142773;NM_033056;XM_006717950 AAI56451;AAK31581;AAK31804;AAR26468;ACF76476;ACF76477;ACF76478;BAG54399;CAD38850;EAW54151;EAW54152;NP_001136235;NP_001136236;NP_001136237;NP_001136238;NP_001136239;NP_001136240;NP_001136241;NP_001136242;NP_001136243;NP_001136244;NP_001136245;NP_149045;Q96QU1;XP_006718013 Hs.280209 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1;REN8202;REN8203;REN8204;REN8205;REN8206;REN8207;REN8208;REN8209;REN8210;REN8211;REN8212;REN8213;REN8214;REN8215;REN8216;REN8217;REN8218;REN8219;REN8220;REN8221;REN8222;REN8223;REN8224;REN8225;REN8226;REN8227;REN8228;REN8229;REN8230;REN8231;REN8232;REN8233;REN8234;REN8235;REN8236;REN8237;REN8238;REN8239;REN8240;REN8241;REN8242;REN8243;REN8244;REN8245;REN8246;REN8247;REN8248;REN8249;REN8250;REN8251;REN8252;REN8253;REN8254;REN8255;REN8256;REN8257;REN8258;REN8259;REN8260;REN8261;REN8262;REN8263;REN8264;REN8265;REN8266;REN8267;REN8268;REN8269;REN8270;REN8271;REN8272;REN8273;REN8274;REN8275;REN8276;REN8277;REN8278;REN8279;REN8280;REN8281;REN8282;REN8283;REN8284;REN8285;REN8286;REN8287;REN8288;REN8292;REN8293;REN8294;REN8295;REN8296;REN8297;REN8298;REN8299;REN8300;REN8301;REN8302;REN8303;REN8304;REN8305;REN8306;REN8307;REN8308;REN8309;REN8310;REN8311;REN8312;REN8313;REN8314;REN8315;REN8316;REN8317;REN8318;REN8319;REN8320;REN8321;REN8322;REN8323;REN8324;REN8325;REN8326;REN8327;REN8328;REN8329;REN8330;REN8331;REN8332;REN8333;REN8334;REN8335;REN8336;REN8337;REN8338;REN8339;REN8340;REN8341;REN8342;REN8343;REN8344;REN8345;REN8346;REN8347;REN8348;REN8349;REN8350;REN8351;REN8352;REN8353;REN8354;REN8355;REN8356;REN8357;REN8358;REN8359;REN8360;REN8361;REN8362;REN8363;REN8364;REN8365;REN8366;REN8367;REN8368;REN8369;REN8370;REN8371;REN8372;REN8373;REN8374;REN8375;REN8376;REN8377;REN8378;REN8379;REN8380;REN8381;REN8382;REN8383;REN8384;REN8385;REN8386;REN8387;REN8388;REN8389;REN8390;REN8391;REN8392;REN8393;REN8394;REN8395;REN8396;REN8397;REN8398;REN8399;REN8400;REN8401;REN8402;REN8403;REN8404;REN8405;REN8406;REN8407;REN8408;REN8409;REN8410;REN8411;REN8412;REN8413;REN8414;REN8415;REN8416;REN8417;REN8418;REN8419;REN8420;REN8421;REN8422;REN8423;REN8424;REN8425;REN8426;REN8427;REN8428;REN8429;REN8430;REN8431;REN8432;REN8433;REN8434;REN8435;REN8436;REN8437;REN8438;REN8439;REN8440;REN8441;REN8442;REN8443;REN8444;REN8445;REN8446;REN8447;REN8448;REN8449;REN8450;REN8451;REN8452;REN8453;REN8454;REN8455;REN8456;REN8457;REN8458;REN8459;REN8460;REN8461;REN8462;REN8463;REN8464;REN8465;REN8466;REN8467;REN8468;REN8469;REN8470;REN8471;REN8472;REN8473;REN8474;REN8475;REN8476;REN8477;REN8478;REN8479;REN8480;REN8481;REN8482;REN8483;REN8484;REN8485;REN8486;REN8487;REN8488;REN8489;REN8490;REN8491;REN8492;REN8493;REN8494;REN8495;REN8496;REN8497;REN8498;REN8499;REN8500;REN8501;REN8502;REN8503;REN8504;REN8505;REN8506;REN8507;REN8508;REN8509;REN8510;REN8511;REN8512;REN8513;REN8514;REN8515;REN8516;REN8517;REN8518;REN8519;RH120548;RH120854;RH122852;RH78831;RH79971;SHGC-151080;SHGC-36014;SHGC-53843;stSG617833;stSG617834;stSG617835;stSG617836;stSG617838;stSG617839;stSG617840;stSG617841;stSG617842;stSG617843;stSG617844;stSG617845;stSG617846;stSG617847;stSG617848;stSG617849;stSG617850;stSG617851;stSG617852;stSG617853;stSG617855;stSG617856;stSG617857;stSG617858;stSG617859;stSG617860;stSG617861;stSG617862;stSG617863;stSG617865;stSG617866;stSG617867;stSG617868;stSG617869;stSG617870;stSG617872;stSG617873;stSG617874;stSG617876;stSG617877;stSG617878;stSG617879;stSG617880;stSG617881;stSG617882;stSG617883;stSG617884;stSG617885;stSG617886;stSG617887;stSG617888;stSG617889;stSG617890;stSG617891;stSG617892;stSG617894;stSG617895;stSG617896;stSG617897;stSG617898;stSG617899;stSG617900;stSG617901;stSG617903;stSG617904;stSG617905;stSG617906;stSG617907;stSG617908;stSG617909;stSG617910;stSG617911;stSG617912;stSG617913;stSG617914;stSG617915;stSG617916;stSG617917;stSG617918;stSG617919;stSG617920;stSG617923;stSG617924;stSG617925;stSG617926;stSG617927;stSG617928;stSG617929;stSG617930;stSG617931;stSG617933;stSG617934;stSG617935;stSG617936;stSG617937;stSG617939;stSG617940;stSG617941;stSG617942;stSG617944;stSG617945;stSG617946;stSG617947;stSG617948;stSG617949;stSG617950;stSG617951;stSG617952;stSG617953;stSG617954;stSG617955;stSG617956;stSG617957;stSG617958;stSG617959;stSG617960;stSG617961;stSG617962;stSG617963;stSG617964;stSG617965;stSG617966;stSG617967;stSG617968;stSG617969;stSG617970;stSG617971;stSG617972;stSG617973;stSG617974;stSG617975;stSG617976;stSG617977;stSG617978;stSG617979;stSG617980;stSG617981;stSG617982;stSG617983;stSG617984;stSG617985;stSG617986;stSG617987;stSG617988;stSG617989;stSG617990;stSG617991;stSG617992;stSG617993;stSG617994;stSG617995;stSG617996;stSG617997;stSG617998;stSG617999;stSG618000;stSG618001;stSG618002;stSG618003;stSG618005;stSG618006;stSG618007;stSG618009;stSG618010;stSG618012;stSG618013;stSG618014;stSG618018;stSG618019;stSG618020;stSG618021;stSG618022;stSG618023;stSG618024;stSG618025;stSG618026;stSG618027;stSG618028;stSG618029;stSG618030;stSG618031;stSG618032;stSG618033;stSG618034;stSG618035;stSG618036;stSG618037;stSG618038;stSG618040;stSG618041;stSG618042;stSG618043;stSG618044;stSG618045;stSG618046;stSG618047;stSG618048;stSG618049;stSG618050;stSG618051;stSG618052;stSG618053;stSG618055;stSG618056;stSG618057;stSG618060;stSG618063;stSG618064;stSG618065;stSG618066;stSG618067;stSG618068;stSG618069;stSG618070;stSG618072;stSG618073;stSG618074;stSG618075;stSG618076;stSG618077;stSG618078;stSG618079;stSG618080;stSG618081;stSG618082;stSG618083;stSG618084;stSG618085;stSG618087;stSG618088;stSG618089;stSG618090;stSG618091;stSG618092;stSG618093;stSG618094;stSG618095;stSG618096;stSG618097;stSG618098;stSG618099;stSG618100;stSG618101;stSG618102;stSG618103;stSG618104;stSG618106;stSG618107;stSG618108;stSG618109;stSG618110;stSG618111;stSG618112;stSG618113;stSG618115;stSG618116;stSG618117;stSG72239 CDHR15;DFNB23;DKFZp667A1711;USH1F OTTHUMP00000019623;OTTHUMP00000019624;OTTHUMP00000185545;OTTHUMP00000185546;OTTHUMP00000185547;OTTHUMP00000185548;OTTHUMP00000185549;OTTHUMP00000185553;OTTHUMP00000199503;cadherin-related family member 15;protocadherin 15;protocadherin-15 APPROVED protein-coding ENSG00000150275 HGNC:14674 05698 601067;602083;605514;609533 REVIEWED 1347922 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008] 20 20 20 q13.31 52876507 52881880 + 56136137 56141515 + 57561081 57566459 + 1580863;1601241;1601239;1601233;2311645;2302809;2302971;2311641;2302850;2302802;2302970;2311639;2302851;2311640;2311642;2311643;6480464;6484113;6907045;7240710;8699517;8554872 11440903;16125296;16271515;16620271;16978381;17242918;17440948;17651728;18443203;18613815;19070910;2966075;4303362;4353083;6049928 11689615;11780052;11851336;11997389;12237288;12324453;12477932;14744869;14764811;1492743;15046742;15489334;15951444;16132948;16144962;16282543;16341674;16344560;1657985;17192490;17495004;18029348;18460190;18492826;18660489;18801732;18830724;18976975;18996102;19021757;19056482;19056867;19329064;19578796;19725958;19913121;20098747;20134411;20574532;20602615;20628086;20682687;20691246;20800603;21145461;21152065;21726808;21832049;21906983;21988832;22489460;23092637;23149075;23300278;23465595;23940030;2993287;8325643;8432541;8490617;8547315 5105 B4DT64;P35558 ABBA01052930;AI635748;AK290802;AK300072;AK303806;AL035541;AMYH02037355;AW007566;AY794987;BC023978;BJ993061;BM758256;BM768055;BX648510;CH471077;DB187814;L05144;L12760;NG_008205;NM_002591;U31519;XM_006723802 AAA02558;AAA60084;AAA91026;AAH23978;AAV50001;ABM84444;ABM87496;BAF83491;BAG61876;BAG64760;EAW75514;EAW75515;NP_002582;P35558;XP_006723865 Hs.1872 1772784;2116988;2124241;2216952;2219468;5020835 D20S1148;PCK1__5838;RH64136;SHGC-1372;SHGC-35332;UniSTS:461927 MGC22652;PEPCK-C;PEPCK1;PEPCKC OTTHUMP00000031374;PEP carboxykinase;phosphoenolpyruvate carboxykinase, cytosolic;phosphoenolpyruvate carboxykinase, cytosolic [GTP];phosphoenolpyruvate carboxylase;phosphopyruvate carboxylase 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;2289429;2289431 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H APPROVED protein-coding HGNC:8724 02028 261680;614168 REVIEWED 1351500 PCLD polycystic liver disease ASSOCIATED WITH Polycystic liver disease (inferred) 7240710 5107 HGNC:8726 174050 6480900 PCMTD1P1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 1 Y Y 10011453 10011813 + 10173844 10174204 + 100874520 ABBA01031171;AC006987;NG_032219 pseudo HGNC:38804 INFERRED 1322394 PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014] 14 14 14 q11.2 4427958 4437809 + 24563347 24573339 + 24094138 24104130 + 1580863;2302809;2302851;2302802;2302970;2302971;6480464;6907045;7240710;8699517 11440903;18613815;2966075;4353083;6049928 12477932;12916001;15315819;15489334;16132948;17097062;18660489;19521512;19587243;20682687;20797423;20877624;21139048;21733854;21832049;21906983;21988832;22955269;24654937;24816145;8645161;9657976 5106 B4DW73;H0YKC4;H0YM31;H0YMA5;H0YML5;H0YMU6;H0YMY3;H0YNG4;H0YNH9;Q16822 ABBA01061330;ABBA01061331;AK129934;AK301400;AK307913;AK311710;AK316206;AL136295;AMYH02028878;AMYH02028879;BC001454;BU623248;BX248272;CA444720;CH471078;CN359636;CR456913;DB028389;HY022221;KF455834;NG_008162;NM_001018073;NM_001291556;NM_004563;X92720;XM_005267726;XM_006720157;XM_006720158;Y11484 AAH01454;BAG62935;BAH14577;CAA63380;CAA72272;CAD62600;CAG33194;EAW66115;NP_001018083;NP_001278485;NP_004554;Q16822;XP_005267783;XP_006720220;XP_006720221 Hs.75812 1664856;1854337;2178181;2181035;5491242 G27394;MARC_3785-3786:991937600:6;RH17782;RH191;SHGC-34002 PEPCK;PEPCK-M;PEPCK2 OTTHUMP00000164700;OTTHUMP00000164701;PEP carboxykinase;phosphoenolpyruvate carboxykinase [GTP], mitochondrial;phosphoenolpyruvate carboxylase;phosphopyruvate carboxylase APPROVED protein-coding ENSG00000100889 HGNC:8725 02026 261650;614095 REVIEWED 69449 PCLO piccolo presynaptic cytomatrix protein The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 7 7 7 q11.23-q21.3 77083829 77492761 - 82383321 82792197 - 82754005 83162884 - 1580863;6480464;8554872 10508862;10707984;12175852;12473661;12477932;12690205;12853948;14734538;15217342;15489334;18647954;19065144;19546850;19942622;20201926;20351715;20379614;20467438;20567237;20677014;20980930;21185011;21621269;22293360;22832399;22832909;23443559;23620758;24167553;24250222;24278217;8900486;9628581;9847074 27445 E9PE96;H7C114;H7C261;Q9Y6V0 AB011131;ABBA01058081;ABBA01058082;ABBA01058083;ABBA01058084;ABBA01058085;AC004006;AC004082;AC004886;AC004903;AC080093;AC093461;AI692861;AK125999;AK297315;AMYH02016168;AMYH02016169;AMYH02016170;AMYH02016171;AMYH02016172;AMYH02016173;BC001304;BC108289;BC122565;BC125271;BE538315;BG913494;BX649041;CH236949;CR749552;DN990884;DV080249;DV080679;NM_014510;NM_033026;XM_006715926;Y19188 AAB97937;AAD21789;AAH01304;AAI08290;AAI22566;AAI25272;BAA25485;BAC86386;BAG59780;CAB60727;CAH18351;EAL24187;EAL24188;NP_055325;NP_149015;Q9Y6V0;XP_006715989 Hs.12376 1669984;1674359;1709046;1723167;1757083;1770582;2115390;2115392;2115788;2130789;2137375;2146897;2152633;2152927;2154511;2162400;2164864;2170677;2174851;5017543 D7S1450;D7S2095E;D7S2121E;D7S2350;D7S2364;D7S758;GDB:1317140;GDB:1317692;GDB:1317962;GDB:1318334;GDB:1318573;PCLO;RH12234;RH123768;SHGC-144472;SHGC-31231;SHGC-56116;SHGC-56120;SHGC-79596;WI-22119 ACZ;DKFZp779G1236 OTTHUMP00000206818;OTTHUMP00000207697;OTTHUMP00000225877;aczonin;piccolo (presynaptic cytomatrix protein);presynaptic cytomatrix protein;protein piccolo APPROVED protein-coding ENSG00000186472 HGNC:13406 16078 604918 REVIEWED 4109800 PCMTD1P2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 2 16 16 p11.2 33941646 33942008 + 34139179 34139541 + 100287647 ABBA01017806;AC136932;AMYH02031946;NG_028879 pseudo HGNC:38805 INFERRED 733720 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer's disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 6 6 6 q24-q25 150806092 150867242 + 150070831 150132557 + 149749695 149811421 + 729481;1580863;6480464 8263531 10343128;10496068;11792715;11847284;11912212;12477932;1339271;1478665;15489334;16169070;16196087;16256389;17110338;17167531;17207965;17353931;18029348;18381200;18582870;19110265;19161160;19287380;19290383;19738201;19913121;1998518;20471030;20628086;20800603;20811636;21081666;21103663;21139048;21145461;21163940;21204776;21319273;21372823;21839816;21841813;21890473;21906983;22033921;22053931;22382029;22412018;22505724;22623428;22647835;22735455;22939629;22990118;23000965;23443559;23647599;23903319;24130170;24250222;24358311;24654937;24816145;2684970;3167043;3355545;7592526;8074695;8914929 5110 B7Z972;C9J0F2;F8WAV5;F8WAX2;F8WDT3;H7BY58;H7C4X2;P22061 AA442100;ABBA01025671;ABBA01025672;ABBA01025673;ABBA01025674;AI220702;AK098739;AK129778;AK289724;AK304532;AL355312;AL539512;AMYH02014698;AMYH02014699;AW025538;BC007501;BC008748;BC018569;BE262147;BX438393;CA441980;CH471051;CX786396;D13892;D25545;D25546;D25547;DB478200;DC339361;DC356391;DC421281;M93008;M93009;NG_033960;NM_001252049;NM_001252050;NM_001252051;NM_001252052;NM_001252053;NM_005389;S73902;S73903;S73905;U49740 AAA90933;AAA90934;AAB38386;AAC60639;AAC60640;AAC60641;AAH07501;AAH08748;ADQ32618;BAA02991;BAA05028;BAA05029;BAA05030;BAF82413;BAH14208;EAW47786;EAW47787;EAW47788;NP_001238978;NP_001238979;NP_001238980;NP_001238981;NP_001238982;NP_005380;P22061 Hs.279257 1644947;1652650;1652652;1712328;2116264;2146832;2163574;2217700 A005L39;G20319;G54073;HSC0WD062;PCMT1_4030;RH37416;STS-D13892;STS-T68453 PIMT L-isoaspartyl protein carboxyl methyltransferase;L-isoaspartyl/D-aspartyl methyltransferase;OTTHUMP00000017397;OTTHUMP00000017398;OTTHUMP00000017400;protein-L-isoaspartate(D-aspartate) O-methyltransferase;protein-beta-aspartate methyltransferase APPROVED protein-coding ENSG00000120265 HGNC:8728 08908 176851 REVIEWED 1602190 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 ENCODES a protein that exhibits protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (inferred); INVOLVED IN protein methylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; clorgyline 8 8 8 q11.23 48720804 48802274 - 52730140 52811735 - 51817575 51899186 - 6480464;8554872 12477932;14702039;15489334;19322201;20360068;20379614;21139048;21145461;23505305;23509962;23847314;24250222;24474268 115294 B7Z927;E5RGG7;F5H1M8;H0YBU4;Q96MG8 ABBA01041692;ABBA01041693;ABBA01041694;AC090186;AC103769;AF293366;AK056952;AK304196;AK304332;AL833027;AMYH02017971;BC010693;BC017677;BC032670;BP418683;BX640885;CH471068;NM_001286782;NM_001286783;NM_052937;XM_005251146 AAG10068;AAH10693;AAH32670;BAB71324;BAG65076;BAH14163;CAE45939;CAH56272;EAW86710;EAW86711;EAW86712;EAW86713;NP_001273711;NP_001273712;NP_443169;Q96MG8;XP_005251203 Hs.671268 1674272;1678861;1748733 RH64989;SHGC-110372;STS-N20046 FLJ10883 OTTHUMP00000226249;OTTHUMP00000226250;protein-L-isoaspartate O-methyltransferase domain-containing protein 1 protein-coding ENSG00000168300 HGNC:30483 08313 VALIDATED 2312693 PCNA-AS1 PCNA antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 20 20 20 p12.3 5170253 5170636 + 5100232 5100615 + 5119586 5119969 + 8554872 10488129;24704293 100302739 ABBA01053874;AL121924;AMYH02036637;NR_028370 Hs.744934 1792016 PMC134733P7 PCNA-AS PCNAAS APPROVED ncrna HGNC:37184 PROVISIONAL 1344067 PCNAP proliferating cell nuclear antigen pseudogene X X p11 50230608 50231590 + 46038686 46039668 + 2569765 5113 AL034410;NG_000865 pseudo HGNC:8731 INFERRED 1345270 PCNAP1 proliferating cell nuclear antigen pseudogene 1 4 4 4 q24 97378957 97380011 - 100081750 100082804 - 99160593 99161647 - 22309575;8995762 359806 ABBA01063672;AMYH02009796;AP002026;CR743211;D17326;NR_028270 Hs.537400 p1PCNA pseudo HGNC:8732 VALIDATED 4110674 PCMTD1P3 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 3 7 7 7 23749674 23750177 - 23760929 23761429 - 23721310 23721810 - 100422595 ABBA01056716;AC008176;AMYH02015369;CH236948;NG_026445 pseudo HGNC:38806 INFERRED 1348291 PCNAP2 proliferating cell nuclear antigen pseudogene 2 4 4 4 q24 97380918 97381054 - 100083711 100083847 - 99162554 99162690 - 22309575;8995762 359805 ABBA01063672;AMYH02009796;AP002026;D17327;NG_002901 pF2PCNA pseudo HGNC:8733 VALIDATED 5688492 PCNAP3 proliferating cell nuclear antigen pseudogene 3 X X X p11.3 50110102 50110878 - 45918187 45918963 - 46058752 46059528 - 22309575 392454 ABBA01052166;AL034410;AMYH02039254;NG_022595 1680002;1682527;1694688;1744273;2142744;2162779 G43531;GDB:450240;RH68739;RH78927;RH80338;STS-M15796 pseudo HGNC:43736 INFERRED 5688491 PCNAP4 proliferating cell nuclear antigen pseudogene 4 11 11 11 p15.1 19428840 19429579 - 19296076 19296815 - 19274529 19275268 - 22309575 390102 ABBA01061037;AC009652;AMYH02024405;NG_021777 pseudo HGNC:43737 INFERRED 2303323 PCNPP1 PEST containing nuclear protein pseudogene 1 12 12 12 q24.12 111730221 111733695 - 112104728 112108183 - 111666924 111670379 - 654427 ABBA01019901;AC137055;AMYH02027210;AMYH02027211;NG_009494 PCNPP APPROVED pseudo HGNC:32440 INFERRED 1349730 PCM1 pericentriolar material 1 The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. [provided by RefSeq, Sep 2010] 8 8 8 p22-p21.3 16746248 16853370 + 17780364 17887457 + 17922857 18029948 + 1580863;6480464;7240710;8699517 10737800;10980597;11076968;11171385;11597177;12221128;12403812;12477932;12852856;14520415;14702039;15107855;15144186;15161933;15184884;15302935;15345747;15489334;15616553;15659651;15805263;16034466;16091753;16189514;16270321;16291865;16424865;16462731;16565220;16712791;16769584;16894060;16943179;16964243;17081983;17203973;17574030;18000879;18029348;18594780;18762586;18772192;19048012;19447967;19455170;19946888;20152126;20360068;20360304;20379614;20468070;20734064;21139048;21481569;21890473;21906983;21956701;21963094;21985783;21987572;21988832;21998199;22100915;22118674;22261722;22505724;22566634;22586326;23000965;23110211;23345402;23372669;23398456;23443559;24121310;24255178;24816145;25015289;7698772;7790358;8120099;9361024 5108 A2RUU9;A6NNN6;E5RGQ4;E7ETA6;E7EV56;E7EV93;E9PGW9;H0YBA1;Q15154 AA931266;ABBA01021576;ABBA01021577;ABBA01021578;ABBA01021579;AC087273;AC087625;AF068293;AI810388;AI924817;AK091406;AK295856;AK301727;AK302378;AK307583;AL705025;AL712077;AMYH02017541;AMYH02017542;AMYH02017543;AW080255;AW237120;AW501568;AX785390;BC000453;BC027477;BC065022;BC133052;BC140946;BF994051;BG898673;BI966701;BQ879089;BU166050;CB157569;CD704264;CH471080;KF458696;L27841;NG_027690;NM_006197;XM_005273509;XM_005273512;XM_005273519;XM_005273520;XM_005273521;XM_006716336;XM_006716337;XM_006716338;XM_006716339;XM_006716340;XM_006716341;XM_006716342;XM_006716343;XM_006716344;XM_006716345;XM_006716346;XM_006716347;XM_006716348;XM_006716349;XM_006716350;XR_428310 AAA60120;AAF65182;AAH00453;AAH27477;AAH65022;AAI33053;AAI40947;BAC03656;BAG58662;BAG63193;BAG63697;CAE11958;EAW63796;EAW63797;EAW63798;NP_006188;Q15154;XP_005273566;XP_005273569;XP_005273576;XP_005273577;XP_005273578;XP_006716399;XP_006716400;XP_006716401;XP_006716402;XP_006716403;XP_006716404;XP_006716405;XP_006716406;XP_006716407;XP_006716408;XP_006716409;XP_006716410;XP_006716411;XP_006716412;XP_006716413 Hs.491148 1298238;1655371;1672544;1694814;1735754;1766747;1851687;2116376;2124552;5037552 AFM333TH1;D8S1365E;D8S2279;D8S261;G43637;RH45791;SHGC-152039;SHGC-37066;WI-13604;WI-19343 PCM-1;PTC4;hPCM-1 OTTHUMP00000224566;OTTHUMP00000224569;OTTHUMP00000224570;pericentriolar material 1 protein;pericentriolar material 1, PCM1 APPROVED protein-coding ENSG00000078674 HGNC:8727 02624 188550;600299 REVIEWED 1603975 PCNP PEST proteolytic signal containing nuclear protein INVOLVED IN proteasome-mediated ubiquitin-dependent protein catabolic process; protein ubiquitination; FOUND IN nucleus; INTERACTS WITH acetylsalicylic acid; cadmium atom; copper(2+) sulfate 3 3 3 q12.3 99685397 99705556 + 101292997 101313281 + 101574198 101594437 + 6480464 12176013;12477932;14741369;15489334;19322201;21044950;21139048;21145461;22412018;24457600;24816145;8125298 57092 G5E9V9;Q8WW12 AB037675;ABBA01061773;ABBA01061774;AC073861;AK025551;AK098760;AK222978;AK314629;AL110143;AMYH02007316;BC013916;BC022001;BC107796;BX647886;CH471052;CR627371;NM_020357 AAH13916;AAH22001;ABM81725;ABM84879;BAB03501;BAD96698;BAG37194;CAH10470;EAW79790;EAW79791;EAW79792;EAW79793;EAW79794;NP_065090;Q8WW12 Hs.744968 1687437;1689017;1694638;1849479;5015619;5022578;5037552;5092770;5113585 A006B41;D11S3114;D1S1423;D8S2279;G32319;G43493;RH41617;RH64826;RH80630 DKFZp781I24156 OTTHUMP00000214092;PEST proteolytic signal-containing nuclear protein;PEST-containing nuclear protein protein-coding ENSG00000081154 HGNC:30023 17826 615210 PROVISIONAL 1313858 PCMTD2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 ENCODES a protein that exhibits protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (inferred); INVOLVED IN protein methylation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cobalt dichloride; cyclosporin A 20 20 20 q13.33 59571881 59592247 + 62887048 62907583 + 64255695 64276226 + 6480464 10470851;11780052;12477932;14702039;15489334;16344560;18187417;21145461;21890473;21906983;22645275;24250222 55251 F8W9F3;I6L9C7;Q9NV79;V9GYG6;V9GYL1;V9GYZ4;V9GYZ7;V9GZ41 ABBA01018572;AK001745;AK074436;AK126700;AL121581;AL137028;AMYH02037487;AX399953;BC032332;BC033665;BC040945;BC045775;CA443672;CH471077;DB224815;NM_001104925;NM_018257 AAH32332;AAH33665;AAH40945;AAH45775;BAA91877;BAC86648;CAD33397;EAW75152;EAW75153;EAW75154;NP_001098395;NP_060727;Q9NV79 Hs.744845 1681016;1684596;1698764;5015961;5109281 D15S1477;D1S1425;D20S535E;RH102945;RH38993 C20orf36;FLJ10883;KIAA0835;KIAA1050 OTTHUMP00000031648;chromosome 20 open reading frame 36;protein-L-isoaspartate O-methyltransferase domain-containing protein 2 protein-coding ENSG00000203880 HGNC:15882 12764 VALIDATED 6481172 PCNPP4 PEST containing nuclear protein pseudogene 4 X X 74757383 74757638 - 75537548 75537803 - 100874220 AC020717;AMYH02039790;NG_032386 pseudo HGNC:41976 INFERRED 5132795 PCNPP5 PEST containing nuclear protein pseudogene 5 13 13 13 q14.2 29956940 29957423 - 48900511 48902710 - 48326375 48328574 - 100507361 ABBA01051006;AL392048;AMYH02028002;NG_029022 KIAA0649 pseudo HGNC:41977 INFERRED 1343290 PCNXL1 pecanex-like 1 (Drosophila) 23690 HGNC:8735 5132814 PCNPP2 PEST containing nuclear protein pseudogene 2 9 9 9 q22.1 62166836 62167353 - 91585724 91586263 - 88970809 88971348 - 100128911 ABBA01016763;AL772202;AMYH02021182;NG_029024 FLJ37523 pseudo HGNC:41974 INFERRED 5132815 PCNPP3 PEST containing nuclear protein pseudogene 3 12 12 12 q14.3 65705373 65705756 - 66038090 66040256 - 65644310 65646476 - 729298 ABBA01026584;AC090023;AMYH02026673;NG_029023 pseudo HGNC:41975 INFERRED 1605048 PCNXL2 pecanex-like 2 (Drosophila) ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; ethyl methanesulfonate; formaldehyde 1 1 1 q42.2 206390263 206701642 - 233119855 233431459 - 232984109 233295713 - 6480464;8554872 12140758;12477932;14702039;19913121;20379614;20628086;21490949;24204828;9455477 80003 A6NKB5;B3KNZ5;E7EVZ6;H0YAR6;H0YAV6;H0YB15;H0YB30;H0YBD1;H0YBD6;H0YBF4 AB007895;ABBA01033073;ABBA01033074;ABBA01033075;AK021445;AK055374;AK074078;AK090784;AK092353;AK097229;AK307812;AL122003;AL133289;AL133291;AL133380;AL139342;AL359819;AMYH02002911;BC008300;BC014639;CH471098;CT004972;DR731333;NM_014801;XM_005273272;XM_006711816;XR_247042;XR_426918;XR_426919 A6NKB5;AAH08300;BAA23708;BAB13826;BAB84904;BAG51507;BAG52229;EAW69982;EAW69983;EAW69984;EAW69985;EAW69986;NP_055616;XP_005273329;XP_006711879 Hs.370605 1648388;1648524;1659062;1672977;1692024;1692548;1693212;1701666;1706562;1722575;1768268;2116176;2120260;2130148;2139755;2148412;2157774;2166387;2169942 AFMa111yd5;AL009455;AL009482;AL009875;AL010076;AL033559;AL033664;AL034050;D1S1752E;D1S3542;G16238;G31203;G60219;RH104503;SHGC-76539;SHGC-76583;SHGC-81260;STS-T54340;WI-14930 FLJ11383;KIAA0435 OTTHUMP00000036003;pecanex-like protein 2 protein-coding ENSG00000135749 HGNC:8736 15108 PROVISIONAL 1348042 PCNXL4 pecanex-like 4 (Drosophila) FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; paraoxon; quercetin 14 14 14 q23.1 40608145 40651366 + 60558545 60601532 + 60091827 60134814 + 6480464 11230166;12477932;14702039;15489334;16189514;16237761;17043677;18029348 64430 B3KMY6;B5MC47;B6ZDM2;H0YIY3;H0YJ84;H0YJN3;H0YJV9;H9KV87;Q63HM2 AA651916;ABBA01018278;AK022861;AK023008;AK095489;AL136581;AL157911;AL163853;AMYH02029292;AY553876;BC030714;BC033843;BX648440;CH471061;NM_022495;XM_005268009 AAH33843;AAS64574;BAB14277;BAG51148;CAB66516;CAH56141;EAW80768;NP_071940;Q63HM2;XP_005268066 Hs.509499 1645321;1855072;2181195 RH46903;RH68606;SHGC-57893 C14orf135;FBP2;FLJ12799;FLJ38170 HCV F protein-binding protein 2;HCV F-interacting protein;OTTHUMP00000197211;OTTHUMP00000197212;OTTHUMP00000197214;hepatitis C virus F protein-binding protein 2;pecanex-like protein 4;pecanex-like protein C14orf135 APPROVED protein-coding ENSG00000126773 HGNC:20349 16604 VALIDATED 6768929 PCOLCE-AS1 PCOLCE antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 7 7 7 q22.1 94916821 94931458 - 100187024 100201661 - 100589401 100604038 - 8554872 14702039 100129845 ABBA01013198;AC069281;AC099394;AK097705;AK298216;AMYH02016384;CH236956;CK903811;HG500449;NR_038910 BAG60486 Hs.714123 RP13-530H6.2 APPROVED ncrna ENSG00000224729 HGNC:40430 VALIDATED 1317411 PCNT pericentrin The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 32857810 32978856 + 47743976 47865682 + 46324070 46445769 + 1580863;5131492;6480464;7240710;8554872;8699517 15380937 10753751;10823944;10830953;10893222;11076968;11171385;12168954;12221128;12477932;12812986;12852856;12906865;14702039;14767062;15094396;15337773;15342556;16198290;16251193;16462731;16565220;16760425;16980960;17626165;17884020;18029348;18157127;18174396;18701509;18955030;19191256;19204726;19251251;19448849;19546241;19643772;19937158;19946888;20466722;20508983;20567258;20599736;20676397;21139048;21270239;21567919;21890473;22184200;22505724;22542101;22552340;22586326;22722493;22990118;23000965;23798705;23979692;24106199;24250222;24457600;24466316;24816145;7790358;8812505;9455477 5116 H7C2A3;O95613 AB007862;ABBA01021763;ABBA01021764;ABBA01021765;ABBA01021766;ABBA01021767;ABBA01021768;AF515282;AK024009;AK093923;AK296731;AMYH02037955;AMYH02037956;AMYH02037957;AMYH02037958;AMYH02037959;AP000335;AP000336;AP000337;AP000471;AP001477;AW452809;BC035913;BP311784;BP312870;CH471079;DC345793;HI574036;KF457339;KF510574;KF511424;KF511426;NG_008961;NM_006031;U52962;XM_005261124;XM_005261125;XM_005261126;XM_005261127;XM_005261128;XM_005261129;XM_005261130 AAD10838;AAH35913;AAP46636;BAA23698;BAB14772;BAC04252;BAG59318;CBX47507;EAX09277;EAX09278;EAX09279;EAX09280;EAX09281;NP_006022;O95613;XP_005261181;XP_005261182;XP_005261183;XP_005261184;XP_005261185;XP_005261186;XP_005261187 Hs.474069 1732041;1753433;2110633;2156805 D21S1272;PCNT2__7047;SHGC-107233;SHGC-87720 KEN;MOPD2;PCN;PCNT2;PCNTB;PCTN2;SCKL4 OTTHUMP00000115827;kendrin;pericentrin (kendrin);pericentrin B;pericentrin-2;pericentrin-380;pericentrin-B APPROVED protein-coding ENSG00000160299 HGNC:16068 05804 210720;605925 REVIEWED 1353951 PCOS1 polycystic ovary syndrome 1 ASSOCIATED WITH Polycystic Ovary Syndrome (inferred) 7240710 5120 HGNC:8741 184700 1602160 PCNXL3 pecanex-like 3 (Drosophila) ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH kojic acid; quercetin; selenomethionine 11 11 11 q13.1 62710511 62731638 + 65383686 65404910 + 65614985 65637439 + 6480464;8554872 15146197;19124506;19913121;20309963;20628086;21139048;21890473;21906983;21963094;21987572;22053931;22505724;23000965;24097068;25015289 399909 Q9H6A9 AA426047;ABBA01024108;AK308625;AMYH02024961;AP001362;BE735110;BU616089;BX640978;CA489689;CN262095;CN281656;CR996285;DY654455;KF455405;NM_032223;XM_005273987;XM_005273988;XM_005273990;XM_006718549;XM_006718550;XM_006718551 CAE45990;NP_115599;Q9H6A9;XP_005274044;XP_005274045;XP_005274047;XP_006718612;XP_006718613;XP_006718614 Hs.380801 FLJ22427 OTTHUMP00000233355;pecanex-like protein 3 protein-coding ENSG00000197136 HGNC:18760 VALIDATED 1352404 PCNX pecanex homolog (Drosophila) FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; atrazine; formaldehyde 14 14 14 q24.2 51437700 51645359 + 71374122 71582099 + 70907405 71115382 + 1580863;6480464 10231032;12168954;12477932;12508121;14702039;15489334;15777640;19240061;19336002;20379614;21139048;21890473;21906983;21963094;21987572;22004471;22881374;23000965;9244429;9872452 22990 H0YJ76;H0YJ91;H0YJZ0;Q96RV3 AB018348;AB023212;ABBA01030800;ABBA01030801;ABBA01030802;ABBA01030803;ABBA01030804;ABBA01030805;AC004817;AC004825;AC005230;AF233450;AK027062;AK127570;AL445903;AMYH02029454;AMYH02029455;AMYH02029456;AMYH02029457;AMYH02029458;AW137672;BC017076;BC033122;BC140784;BC152474;BC167161;CH471061;KF455927;KF455931;KF455932;NM_014982;XM_005267420;XM_005267421;XM_005267422;XM_005267423;XM_005267424;XM_005267425;XM_005267426;XM_005267427;XM_005267428;XM_005267429;XM_006720082;XR_245672;XR_245673 AAH17076;AAH33122;AAI40785;AAI66691;AAK82958;BAA34525;BAA76839;BAG54525;EAW81052;EAW81053;EAW81054;EAW81055;NP_055797;Q96RV3;XP_005267477;XP_005267478;XP_005267479;XP_005267480;XP_005267481;XP_005267482;XP_005267483;XP_005267484;XP_005267485;XP_005267486;XP_006720145 Hs.446559 1338056;1645145;1646467;1663416;1670666;1683006;1701330;1740765;1769361;1786424;1851866;1853511;2116198;2128564;2131944;2139252;2141383;2144170;2147868;2149500;2153401;2162830;2179242;2183849;2184071;5014057;5109281;5118800 D11S3663;D14S1207;D14S289;D1S1425;D1S3699;G35392;G35793;G35804;G36024;G36095;G38083;G38093;G38094;G38119;G38296;G38297;G38299;HSC2CG042;RH104295;RH41977;RH65411;RH68706;RH70103;RH78766;RH92370;SGC44464;SHGC-172022;SHGC-44464 FLJ23409;FLJ45663;KIAA0805;KIAA0995;PCNXL1 OTTHUMP00000245529;OTTHUMP00000245530;OTTHUMP00000245531;pecanex;pecanex-like 1;pecanex-like protein 1 protein-coding ENSG00000100731 HGNC:19740 10139 VALIDATED 733466 PCOLCE procollagen C-endopeptidase enhancer Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008] 7 7 7 q22 94929679 94935595 + 100199882 100205798 + 100602259 100608175 + 1580863;6480464;8554872 10625689;12105202;12393284;12393877;12477932;12486138;12670942;15489334;15817489;16507574;17446170;17602227;18164932;18350290;19361460;19801683;20207734;20729553;21569766;21940633;22990118;23550162;23815790;24117177;7523404;8824813;9799793;9933570 5118 Q15113 AB008549;ABBA01013198;AC099394;AF083655;AK298364;AK313748;AMYH02016384;BC000574;BC033205;BI837971;CH236956;CH471091;L33799;NM_002593 AAA61949;AAD16041;AAH00574;AAH33205;ABM82849;ABM86034;BAA23281;BAG36488;BAG60606;EAL23825;EAW76515;NP_002584;Q15113 Hs.202097 1676754;1677522;1735662;2174547 D7S2120E;PCOLCE;RH79682;RH98230 PCPE;PCPE-1;PCPE1 OTTHUMP00000210409;procollagen C-endopeptidase enhancer 1;procollagen C-proteinase enhancer 1;procollagen COOH-terminal proteinase enhancer 1;procollagen, type 1, COOH-terminal proteinase enhancer;type 1 procollagen C-proteinase enhancer protein;type I procollagen COOH-terminal proteinase enhancer APPROVED protein-coding ENSG00000106333 HGNC:8738 02603 600270 REVIEWED 1346123 PCOLCE2 procollagen C-endopeptidase enhancer 2 ENCODES a protein that exhibits collagen binding; heparin binding; peptidase activator activity; INVOLVED IN positive regulation of peptidase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene 3 3 3 q21-q24 140960205 141031522 - 142536702 142608045 - 142817860 142889203 - 1580863;6480464;8554872 10873381;11597177;12063410;12393877;12477932;12975309;15340161;15489334;16303743;16344560;19237735;8125298 26577 C9JYX9;H7C520;H7C5D5;Q9UKZ9 ABBA01059021;ABBA01059022;AC021074;AF098269;AK075478;AK223633;AK315121;AMYH02007823;AY035400;AY358557;BC006265;CD366192;CH471052;CR536570;DA555576;DQ173439;DQ173455;DQ173477;DQ173478;DQ173479;DQ173480;DQ173483;DQ173484;DQ173485;DQ173489;DQ173491;DQ173492;NM_013363 AAF04621;AAI52797;AAK63128;AAQ88921;BAD97353;BAG37576;BAG52150;CAG38807;EAW78961;EAW78962;NP_037495;Q9UKZ9 Hs.8944 1735180;2140874;2143306;2153683;2171219 D3S2824E;D3S4174;G16602;RH12324;SHGC-33034 PCPE2 OTTHUMP00000214783;OTTHUMP00000214784;procollagen C-proteinase enhancer 2;procollagen COOH-terminal proteinase enhancer 2 protein-coding ENSG00000163710 HGNC:8739 06139 607064 VALIDATED 1602138 PCP4L1 Purkinje cell protein 4 like 1 INTERACTS WITH hydrogen peroxide; theophylline; trichostatin A 1 1 1 q23.3 134295731 134322384 + 161228517 161255240 + 161258727 161285450 + 6480464 12477932;15053978;15146197;15489334;16710414;19284880;21565611;22589738 654790 A6NKN8 ABBA01016594;ABBA01016595;ABBA01016596;AC243898;AL590714;AL592295;BC028905;BC067884;BC147003;BC147004;CD237602;CN283207;NM_001102566 A6NKN8;AAI47004;AAI47005;NP_001096036 Hs.433150 1720599;1781408;5121247 G59106;RH78663;SHGC-111073 IQM1 OTTHUMP00000223330;PCP4-like protein 1;Purkinje cell protein 4-like protein 1 protein-coding ENSG00000248485 HGNC:20448 VALIDATED 732094 PCNA proliferating cell nuclear antigen The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008] 20 20 20 pter-p12 5165620 5177289 - 5095599 5107268 - 5114953 5126622 - 1580863;2315007;2315009;2315011;2315013;2315014;2315012;2306716;2315010;729592;2315008;2292498;6480464;6907045;7246931;7246932;8699517;8554872 10374321;10533299;11369057;11869017;12099899;17512402;18000229;18157157;23545418;7474604;8098267;8102204;9143022 10022118;10051561;10219083;10353443;10393198;10408173;10455148;10463569;10477523;10559261;10648606;10828065;10858286;10871373;10873631;10888872;10930425;10973963;10978339;11005803;11022036;11077446;11092888;11239001;11254741;11268218;11274057;11302688;11310559;11313979;11328591;11350925;11376153;11411798;11430825;11473323;11554927;11559705;11578332;11585903;11593007;11595739;11601988;11682605;11724965;11741962;11780052;11784855;11805113;11864421;11877408;11896603;11929879;11968016;11986310;11994305;12015309;12045192;12063248;12081642;12088102;12124778;12125971;12171929;12192049;12220650;12226657;12237462;12354094;12361598;12368291;12382578;12390713;12393188;12400013;12403614;12439914;12452045;12452062;12477932;12479101;12515622;12522211;12532471;12632497;12633936;12750383;12766176;12782299;12786946;12853968;12857440;12893285;12930846;12937166;12947108;12964161;1313560;14558955;14612290;14642618;14657243;14669354;14676842;14729473;1477073;14871261;14871894;14988403;15000866;15033825;15050687;15107487;15149598;15161643;15221970;15225546;15327775;15342632;15358233;15359278;15489334;15494374;15504738;15536154;15543136;15572421;15576034;15595847;15616578;15617346;15635413;15638377;15638382;15647383;15681588;15754413;15772596;15777783;15805117;15831485;15852347;15924676;15967114;16000169;16082198;16101161;16124066;16174846;16189514;16195237;16196087;16201313;16204460;16216273;16216562;16226712;16226749;16227586;16248462;16288740;16357261;16362051;16388758;16407242;16407252;16438930;16463680;16474839;16482215;16508013;16510448;16512489;16531995;16551699;16552335;16584090;16609022;16611994;16616141;16710452;16763556;16826239;16861890;16861906;16888288;16888649;16888766;16934511;16964240;16982685;17063386;17065558;17106521;17108083;17115032;17148452;17164758;17167529;17203305;17274640;17274954;17285972;17298749;17342744;17395554;17507928;17525639;17564317;17588519;17669698;17720188;17720710;17828505;17880707;17927850;17932049;17955473;17982625;18029348;18032376;18072009;18082604;18086887;18162470;18162579;18166648;18184650;18245774;18256758;18263614;18279620;18284681;18312749;18316726;18319261;18321066;18326858;18331714;18353733;18448427;18451105;18481002;18498247;18499658;18509272;18510217;18521065;18562274;18604718;18662981;18669164;18676680;18704118;18719106;18765913;18781797;18794347;18799611;18839537;18845679;18853184;18931444;18948756;18949048;18954305;19001268;19012493;19067003;19104052;19125419;19130399;19156526;19170196;19208623;19221475;19237606;19285961;19339270;19342888;19351509;19419956;19424044;19443450;19460716;19481339;19483288;19505873;19523882;19536092;19550124;19595719;19625176;19628465;19692168;19704162;19714462;19730436;19738201;1975809;19789190;1979311;19822659;19834596;19845771;19851886;19885588;19895739;19895794;19950226;19995904;20004149;20029092;20061190;20064529;20071335;20085707;20128380;20129057;20129063;20147293;20150366;20159558;20211058;20226869;20227374;20302655;20303835;20305653;20350215;20360068;20385554;20394503;20423048;20453000;20457750;20460379;20496165;20522537;20528769;20541997;20543468;20574454;20580447;20580881;20600238;20603015;20605778;20606006;20613874;20639865;20675655;20729856;20733054;20803149;20823236;20826785;20848772;20849852;20932471;20937699;20940144;20975039;21031434;21035370;21045206;21081666;21139048;21145461;21149733;21167178;21209461;21220508;21227930;21254647;21255825;21319273;21344488;21364740;21371741;21383955;21396873;21415862;21424069;21461937;21501231;21504906;21536034;21549307;21605556;21628590;21640107;21664290;21690293;21694464;21704031;21725088;21738398;21791603;21845734;21846465;21853274;21855803;21858012;21875946;21880767;21890473;21906983;21935871;21952639;21963094;21967848;21978893;21987572;21988832;21996408;22021614;22053931;22057681;22086303;22145905;22148433;22157815;22157819;22178446;22199292;22203964;22232658;22238610;22268729;22303007;22304920;22334915;22362778;22381917;22383522;22387026;22393258;22451935;22456510;22457066;22505724;22520514;22529391;22556262;22586102;22592530;22606318;22617335;22622474;22623772;22634751;22681887;22692198;22704558;22705370;22763828;22797925;22846997;22863883;22894931;22902626;22902628;22918591;22939629;22966418;22980979;22987070;22989887;23000965;23042605;23042607;23139781;23152873;23248005;23277426;23317197;23337132;23345618;23364796;23388460;23443559;23485469;23527218;23542172;23580141;23677613;23703321;23708667;23731732;23761444;23825390;23840062;23846616;23862649;23939377;23963898;24012694;24061459;24250222;24283290;24337577;24379417;24407433;24423875;24583282;24617039;24654937;24657165;24672041;24695737;24699724;24710624;24768535;24911150;24958773;24962565;25015289;25027693;2565339;2569765;2882422;2882507;7478510;7673186;7673244;7780738;7784094;7821789;7903056;7908906;7911228;7949095;7973727;8093561;8101826;8103281;8259215;8647134;8662825;8668533;8673466;8858149;8861913;8861969;8876181;8995762;8999859;9087533;9092549;9111189;9178907;9228079;9302295;9305916;9396813;9443979;9465025;9467962;9545252;9545286;9546435;9552415;9563011;9566895;9570268;9632134;9649448;9667749;9705499;9751713;9822671;9927044 5111 P12004;Q7Z6A3 ABBA01053874;AF527838;AK300558;AK313286;AL121924;AMYH02036637;AY310162;AY310163;AY310164;AY310165;BC000491;BC062439;BG612192;BU626265;CB990423;CH471133;CR536501;CR541799;D28458;J04718;J05614;M15796;NM_002592;NM_182649 AAA35736;AAA60040;AAH00491;AAH62439;AAM78556;AAP58729;AAP58730;AAP58731;AAP58732;ABM82329;ABM85507;BAA05824;BAG36094;BAG62264;CAG38740;CAG46598;EAX10428;EAX10429;EAX10430;NP_002583;NP_872590;P12004 Hs.147433;Hs.744934 1680002;1682527;1694688;1744273;1792016;2142744;2162779 G43531;GDB:450240;PMC134733P7;RH68739;RH78927;RH80338;STS-M15796 ATLD2;MGC8367 DNA polymerase delta auxiliary protein;OTTHUMP00000030189;OTTHUMP00000030190;cyclin APPROVED protein-coding ENSG00000132646 HGNC:8729 01456 176740;615919 REVIEWED 1345180 PCSK4 proprotein convertase subtilisin/kexin type 4 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. The protease is expressed only in the testis, placenta, and ovary. It plays a critical role in fertilization, fetoplacental growth, and embryonic development and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein and pro-insulin-like growth factor II. [provided by RefSeq, Jan 2014] 19 19 19 p13.3 1415419 1424399 - 1481427 1490886 - 1481428 1490737 - 6480464 10409610;11193847;11776387;12477932;12975309;14702039;15489334;16040806;18343183;19109312;19913121;20628086;21080038;21805236;21805237;22679642;23775089;24250222;7782070;7819324;8889548 54760 B3KQ28;K7EJB6;K7EN14;Q6UW60 AA453604;ABBA01002647;ABBA01002648;AC027307;AK057235;AK302079;AL043305;AL133566;AMYH02035152;AY358963;BC036354;BC142942;BU742489;CH471139;HY011376;NM_017573;XM_005259583;XM_005259585;XM_005259586;XM_005259589;XM_006722771;XM_006722772;XM_006722773;XR_244030;XR_244031;XR_430141;XR_430142;XR_430143 AAH36354;AAI67771;AAQ89322;ABM82242;ABM84279;ABM85426;ABM87671;ABW03607;BAG51890;BAG63467;CAB63719;EAW69494;NP_060043;Q6UW60;XP_005259640;XP_005259642;XP_005259643;XP_005259646;XP_006722834;XP_006722835;XP_006722836 Hs.46884 1677412;1796482 PCSK4_1742;RH92433 DKFZp434B217;MGC34749;PC4;SPC5 OTTHUMP00000158677;proprotein convertase 4 APPROVED protein-coding ENSG00000115257 HGNC:8746 600487 REVIEWED 737617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processed into multiple short peptides. A polymorphism within this gene may be associated with obesity. [provided by RefSeq, Aug 2013] X X X p11.23 52969569 52974023 + 48689504 48694036 - 48831092 48835638 - 69973;1580863;1642360;1642350;1642351;1642352;6480464 10632593;11680901;14746899;15012590;17412804 11435430;11719503;12477932;12914799;15489334;16372267;18948394;19528091;20498726;20600356;20704348;21311511;21720444;21862681;22046305;22695173;23056534;23383060 27344 Q9UHG2 AA706516;ABBA01046069;ABBA01046070;AC231533;AF181562;AF196971;AMYH02039308;BC002851;BC094731;BX459856;CH471224;HY114016;HY348068;NM_013271 AAF22643;AAH02851;ABM84451;EAW50742;NP_037403;Q9UHG2 Hs.522640 1687387 RH93778 SAAS OTTHUMP00000032426;granin-like neuroendocrine peptide;pro-SAAS;proSAAS;proprotein convertase 1 inhibitor APPROVED protein-coding ENSG00000102109 HGNC:17301 02320 300399 REVIEWED 736345 PCSK2 proprotein convertase subtilisin/kexin type 2 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The protein undergoes an initial autocatalytic processing event and interacts with a neuroendocrine secretory protein in the ER, exits the ER and sorts to secretory granules, where it is cleaved and catalytically activated during intracellular transport. The encoded protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2014] 20 20 20 p11.2 17282082 17539671 + 17206752 17465223 + 17226107 17484578 + 1581731;1580863;1357926;2308936;6480464;6483555;6483556;2308905;2308900;6483554;6483567;8554872 11730986;11874690;14630714;15286802;16337011;18039782;19142196;20036365;7698505 10037747;10409610;10530621;10900462;10931181;10965896;11246872;11439082;11720250;11780052;12477932;14614908;14702039;15489334;15585599;1594602;16293189;16344560;17618154;1765368;18096669;18343183;19260141;19339735;19628676;19724895;19851296;20198315;20379614;20501680;21102462;21383526;21437630;2154467;21546767;21805236;21805237;22679642;23011353;23251661;23775089;24226266;24839885;3053705;7626024;7722516;7836407;7913882;7983775;8034613;8276855;8557106;8661740;9020868;9359835;9467579 5126 AAB32656;P16519 ABBA01054021;ABBA01054022;AK091505;AK294200;AK312341;AL031664;AL031675;AL121779;AL359511;AMYH02036761;AMYH02036762;AMYH02036763;AMYH02036764;AMYH02036765;AMYH02036766;BC001905;BC005815;BC040546;BM893758;BP384064;CD519990;CH471133;DA147868;DA148468;DB173053;HY137524;J05252;KF456847;KF456853;M95960;M95971;NM_001201528;NM_001201529;NM_002594;S75955;U73595 AAA59919;AAA60032;AAB32656;AAC51862;AAD14202;AAH05815;AAH40546;ABM83601;ABM86843;BAG35262;BAG57514;EAX10279;EAX10280;EAX10281;NP_001188457;NP_001188458;NP_002585;P16519 Hs.315186 1335096;1339271;1339691;1653935;1703184;1729522;1742925;1767037;1774790;1790351;2110531;2110551;2110635;2117741;2120911;2131964;2135856;2146361;2155212;2161333;2172329;2179659;2179756;7185117;7185379;7186505 A005D19;D20S1060;D20S112;D20S114;D20S431;D20S47;D20S470;D20S48;D20S733;D20S778;GDB:215832;MARC_42817-42818:1094748518:1;MARC_46539-42818:1108157929:1;PCSK2;PCSK2_3229;RH11928;RH64144;RH65786;RH66076;SGC32415;SHGC-152681;WI-22195;Z94716 NEC 2;NEC-2;NEC2;PC2;SPC2 KEX2-like endoprotease 2;OTTHUMP00000030330;OTTHUMP00000040511;neuroendocrine convertase 2;prohormone convertase 2;proprotein convertase 2;subtilisin-like prohormone convertases APPROVED protein-coding ENSG00000125851 HGNC:8744 01202 162151 REVIEWED 1314709 PCP2 Purkinje cell protein 2 ENCODES a protein that exhibits GTPase regulator activity (inferred); guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); rhodopsin mediated signaling pathway (inferred); FOUND IN neuronal cell body (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 6-propyl-2-thiouracil (ortholog) 19 19 19 p13.2 7567691 7569754 - 7696501 7701282 - 7631615 7636967 - 737633;6480464 12477932 10196137;12399102;15489334;16298104;17215137;18768681;23824909 126006 Q8IVA1 ABBA01010893;AC008763;AK130855;AMYH02035403;AY091633;BC025387;BC038715;BX281028;BX647746;CH471139;NM_001271830;NM_174895;XM_006722639 AAH25387;AAH38715;AAN52488;EAW69019;NP_001258759;NP_777555;Q8IVA1;XP_006722702 Hs.591400 DKFZp686M0187;FLJ27345;GPSM4;L7;MGC41903 Purkinje cell protein 2 homolog;Purkinje cell-specific protein L7 protein-coding ENSG00000174788 HGNC:30209 18723 VALIDATED 1604066 PCSK6 proprotein convertase subtilisin/kexin type 6 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014] 15 15 15 q26.3 78256961 78396788 - 101844133 102030187 - 101303928 101489984 - 6480464;8554872 10037747;10050053;10215603;10409610;10467164;10467177;10900462;11063880;11380615;11736660;12463163;12477932;12535616;12787574;12805404;14561729;15043778;16433634;1741956;17707572;17825503;17909005;18061232;18343183;18671934;18772886;18976975;19339735;19913121;20379614;20628086;21051773;21078624;21722156;21805236;21805237;21890473;21963094;22440827;22679642;23226097;23775089;23908247;24068947;24860148;24913567;7980617;8179631;8218226;8615794;8670066;8906861;8940009;8995442;9192737;9242664;9378725;9521771;9738469 5046 A2RQD9;H0Y3Q0;H0YKK2;H0YKZ4;H0YLC8;H0YMW5;H7BXT3;P29122;Q59H04 AB001914;AB208955;ABBA01020523;ABBA01020524;AC023024;AC087528;AI478762;AL545278;AM491522;AMYH02031170;AMYH02031171;AMYH02031172;AMYH02031173;AW137040;BC043562;BU732171;BX428035;BX649058;CH471101;D28513;D87993;D87994;D87995;DB143095;HY122769;HY205376;M80482;NG_030047;NM_001291309;NM_002570;NM_138319;NM_138320;NM_138321;NM_138322;NM_138323;NM_138324;NM_138325 AAA59998;BAA05871;BAA21620;BAA21621;BAA21622;BAA21623;BAA21624;BAA21625;BAA21626;BAA21627;BAA21791;BAA21792;BAA21793;BAD92192;CAM33226;EAX02301;EAX02302;EAX02303;EAX02304;EAX02305;EAX02306;EAX02307;EAX02308;EAX02309;EAX02310;EAX02311;NP_001278238;NP_002561;NP_612192;NP_612193;NP_612194;NP_612195;NP_612196;NP_612197;NP_612198;P29122 Hs.498494;Hs.665989 1650966;1661239;1766481;1797938;1852053;2163970;2164364;2174723;2180821;5024039;5117282 D15S1284;D16S325;GDB:455456;PACE4_1021;RH11158;RH1637;RH44602;RH70429;SGC35346;SHGC-149807;STS-H73505 PACE4;SPC4 paired basic amino acid cleaving enzyme 4;paired basic amino acid cleaving system 4;subtilisin-like proprotein convertase 4;subtilisin-like protease;subtilisin/kexin-like protease PACE4 APPROVED protein-coding ENSG00000140479 HGNC:8569 01329 167405 REVIEWED 731616 PCP4 Purkinje cell protein 4 ENCODES a protein that exhibits calmodulin binding (inferred); INVOLVED IN central nervous system development (inferred); FOUND IN cytosol; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A 21 21 21 q22.2 26436822 26498803 + 41239347 41301322 + 39867421 39929397 + 1580863;6480464 10830953;12477932;14551202;15489334;16780588;20379614;20494980;21044950;21491429;21565611;23204517;24291518;24376456;8914602;8931698;9345904;9697113 5121 F6SSA2;P48539 ABBA01009329;ABBA01009330;ABBA01009331;AF064857;AF416716;AK289964;AL163281;AM183336;AMYH02037835;BC013791;BQ287895;CH471079;CR450319;KF510128;NM_006198;U52969;U53707;U53708;U53709;X93349 AAB09033;AAC00024;AAC23994;AAH13791;AAL16810;BAF82653;CAA63724;CAB90443;CAG29315;CAJ70630;EAX09622;EAX09623;EAX09624;EAX09625;NP_006189;P48539 Hs.80296 2109631;2114997;2115235;2124264;2143956 PCP4_8524;SHGC-18172;SHGC-31654;SHGC-52046;WI-14954 PEP-19 OTTHUMP00000109191;brain specific polypeptide PEP19;brain-specific antigen PCP-4;brain-specific polypeptide PEP-19 protein-coding ENSG00000183036 HGNC:8742 03378 601629 VALIDATED 733505 PCSK7 proprotein convertase subtilisin/kexin type 7 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014] 11 11 11 q23-q24 114233408 114260470 - 117075788 117102811 - 117199836 117232525 - 1580863;6480464 10037747;10050053;10362256;10409610;10452538;10715106;10964928;11051545;11063880;11104692;11380615;11723118;12071862;12084516;12354117;12477932;14702039;15606899;17242158;18343183;19322201;20164418;21075846;21149283;21209099;21805236;21805237;21943158;22294700;22679642;23390091;23686857;23775089;7819324;8125298;8564950;8615762;8940009;8995623;9094426;9341152;9521771;9820811 9159 B3KUH2;E9PIW7;E9PLM0;E9PMC0;E9PP37;Q16549 AB231710;AB231711;AB231712;ABBA01039737;AF057710;AK027156;AK097207;AK127262;AK222907;AK312429;AMYH02025629;AP000892;AP005018;BC006357;BC010696;BT006870;CH471065;DA126121;EF445005;EL950661;NM_004716;U33849;U40623;XM_006718938;XM_006718939;XM_006718940;XR_428984;XR_428985 AAB03087;AAC50417;AAD55137;AAH06357;AAH10696;AAP35516;ABM84729;ABM92249;ACA06036;BAD96627;BAE46876;BAG35338;BAG53434;EAW67303;EAW67304;EAW67305;NP_004707;Q16549;XP_006719001;XP_006719002;XP_006719003 Hs.648612 1643922;1731819;1848049;2129133;2148116;2148118;5022578 D11S1370;D11S4352;D1S1423;RH18036;RH47219;SHGC-34343;SHGC-58052 FLJ23503;FLJ45329;LPC;PC7;PC8;SPC7;hPC8 OTTHUMP00000230580;lymphoma proprotein convertase;prohormone convertase 7;prohormone convertase 8, subtilisin-like;prohormone convertase PC7;proprotein convertase 7;proprotein convertase 8;proprotein convertase PC7;proprotein convertase subtilisin / kexin, type 7;subtilisin/kexin-like protease PC7 APPROVED protein-coding HGNC:8748 05339 604872 REVIEWED 734345 PCSK1 proprotein convertase subtilisin/kexin type 1 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. The protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene [provided by RefSeq, Jan 2014] 5 5 5 q15-q21 91608060 91651008 - 95726040 95768985 - 96390336 96433281 - 737721;1601274;1580863;1357926;1642015;1357925;2308889;2308918;2308934;2308929;2308931;2308899;2308900;2308935;2308905;2308932;1600414;1601276;2308898;2308919;2308920;2308930;2298715;2308904;6480464;6483567;7240710;8554872;8699517 11730986;11874690;12145326;12411741;12475375;12809692;14630714;15189116;15291740;16337011;16497799;16926379;16938896;17131142;17630003;17698597;18448419;18941442;19034419;7883951;7925129;8666140;9015327;9207799 10037747;10087454;10391209;10409610;10530621;10771309;10931181;11113628;11246872;11435430;11720250;11739459;12126783;12147786;12147787;12477932;12715715;14574455;14614908;14617756;15126519;15127203;1547893;15807527;1597471;1605851;16293189;16344560;16644867;16928730;17595246;1765368;17917309;17990211;18096669;18343183;18549351;18604207;19164386;19339735;19528091;19628676;19641380;19875984;19876004;19913121;20106974;20498726;20534142;20571754;2061332;20628086;20734064;21030982;21720444;21805236;21805237;21873549;21935364;22000902;22210313;22344219;22552345;22581228;22592666;22679642;22737226;23121087;23314902;23383060;23451278;23775089;23800642;23903356;23966867;24140494;24226266;24443104;24964673;3053705;3542996;4368999;7639757;7797529;7836407;8163529;8397508;8557106;8916141;8940009;8995623;9213372;9521468 5122 D6RJA3;P29120 AB208874;ABBA01069234;AC008951;AC108107;AK303888;AK308575;AMYH02011826;BC031211;BC130295;BC136486;CH471084;D73407;DA192592;M90753;NG_021161;NM_000439;NM_001177875;NM_001177876;U24128;X64810 AAA59918;AAA73788;AAI30296;AAI36487;BAA11133;BAD92111;BAH14073;CAA46031;EAW96062;EAW96063;NP_000430;NP_001171346;NP_001171347;P29120 Hs.78977 1676017;1690065;1700160;1720645;1720933;1750067;1796480;2126238 G59132;G59296;PCSK1_1012;RH103693;RH81073;RH92225;SHGC-112327;STS-X64810 BMIQ12;NEC 1;NEC1;PC1;PC3;SPC3 OTTHUMP00000151175;OTTHUMP00000222725;neuroendocrine convertase 1;prohormone convertase 1;prohormone convertase 3 2289249 BW90_H APPROVED protein-coding ENSG00000175426 HGNC:8743 01201 162150;600955;612362 REVIEWED 1350972 PCYOX1 prenylcysteine oxidase 1 Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM, Mar 2008] 2 2 2 p13.3 70335922 70359008 + 70485231 70508317 + 70258099 70281185 + 1580863;6480464;8554872 10048485;10585463;12186880;12477932;12975309;15489334;16335952;16765319;17154273;17370265;19056867;19253276;21139048;21890473;22939629;23000965;24250222;8125298;9287348 51449 B7Z3Y2;B7Z8A2;C9JGT6;C9JM55;C9K055;F8W8W4;Q9UHG3 AB020715;ABBA01075531;ABBA01075532;ABBA01075533;ABBA01075534;AC016700;AC079338;AF181490;AK225302;AK296478;AK303043;AK314453;AK316013;AMYH02004038;AY359063;BC007029;BC022259;BC033815;BC051891;CH471053;DC417137;NM_016297 AAF16937;AAH07029;AAH33815;AAH51891;AAQ89422;AAX81995;AAX93194;ABM81727;ABM84882;BAA74931;BAG37061;BAH12368;BAH13888;BAH14384;EAW99819;NP_057381;Q9UHG3 Hs.567502 1673438;1684090;1689628;1698560;2110637;2119934;2184311;5015619;5021872;5022651 D11S2921;D11S3114;G31113;PCYOX1__7050;RH102832;RH47273;RH64952;RH98964;SHGC-30019;sY3084 KIAA0908;PCL1 OTTHUMP00000160077;OTTHUMP00000204091;OTTHUMP00000204094;prenylcysteine lyase APPROVED protein-coding ENSG00000116005 HGNC:20588 11422 610995 VALIDATED 1604601 PCYOX1L prenylcysteine oxidase 1 like ENCODES a protein that exhibits oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor (inferred); prenylcysteine oxidase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); prenylcysteine catabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cadmium atom; cyclosporin A 5 5 5 q32 144819547 144831198 + 148737570 148749221 + 149358007 149369658 + 6480464;8554872 12477932;15340161;15489334;16303743;16344560;19946888;20237496;22268729 78991 D6R9J0;E7EVZ5;Q8NBM8 ABBA01026306;AC131025;AF451985;AK075414;AK090410;AK127281;AL834220;AMYH02012443;BC000014;BC004166;BP397957;CH471062;CS051219;DA368718;DB573610;NM_001301054;NM_001301055;NM_001301057;NM_024028;XM_006714794;XM_006714795 AAH00014;AAH04166;AAP97684;BAC03391;BAC11604;BAG54471;CAD38901;CAI72105;EAW61783;EAW61784;EAW61785;NP_001287983;NP_001287984;NP_001287986;NP_076933;Q8NBM8;XP_006714857;XP_006714858 Hs.644397 2107381;2132581;2161134 D5S1632E;MGC3265__7706;SGC30516 MGC3265 OTTHUMP00000160527;OTTHUMP00000228339;prenylcysteine oxidase-like protein-coding ENSG00000145882 HGNC:28477 14552 VALIDATED 6481295 PCYT1B-AS1 PCYT1B antisense RNA 1 p22.11 100874088 AC079168;HG512467;NR_046638 APPROVED ncrna HGNC:40431 VALIDATED 1353620 PCTP phosphatidylcholine transfer protein ENCODES a protein that exhibits phosphatidylcholine binding; phosphatidylcholine transporter activity; INVOLVED IN phospholipid transport; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol (inferred); INTERACTS WITH calcitriol; capsaicin; clofibrate 17 17 17 q21-q24 50290127 50316517 + 53828340 53920522 + 55750979 55843156 + 1580863;6480464;8554872 10500206;10542325;11983415;12055623;12477932;15489334;17266964;17704541;18676680;18976975;19170196;19625176;19692168;19913121;22021425;24216752;24816145 58488 I3L2M9;I3L3H0;I3L4Z8;J3QT99;Q549N3;Q9UKL6 ABBA01041296;ABBA01041297;AC009837;AC090618;AC091155;AF087857;AF114430;AF114431;AF114432;AF114433;AF114434;AF114435;AF114436;AF151638;AK024667;AK058120;AK314509;AMYH02033659;BC005112;BC012084;BM153142;BM549250;BX648199;CH471109;NM_001102402;NM_021213;XM_005257549;XM_005257550;XM_005257551;XR_243677 AAF02536;AAF08345;AAF08347;AAH05112;AAH12084;AAP97167;ADZ15655;BAG37109;EAW94533;EAW94534;EAW94535;EAW94536;NP_001095872;NP_067036;Q9UKL6;XP_005257606;XP_005257607;XP_005257608 Hs.285218 1652238;1719439;5037746 D1S3696;RH123437;STS-W57964 PC-TP;STARD2 START domain containing 2;START domain-containing protein 2;StAR-related lipid transfer (START) domain containing 2;stAR-related lipid transfer protein 2 protein-coding ENSG00000141179 HGNC:8752 06927 606055 VALIDATED 1348765 PCYT1B phosphate cytidylyltransferase 1, choline, beta The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X p22.11 28699089 28813849 - 24576204 24690979 - 24558087 24672862 - 1580863;6480464;6907045 10409428;10480912;11580269;11580270;12477932;14702039;15345747;15489334;19595683;19913121;20628086;20682791;21163940;21832049;21906983;9593753 9468 F2Z2B1;Q9Y5K3 ABBA01072335;ABBA01072336;ABBA01072337;ABBA01072338;ABBA01072339;ABBA01072340;ABBA01072341;ABBA01072342;ABBA01072343;ABBA01072344;ABBA01072345;ABBA01072346;ABBA01072347;ABBA01072348;AC079168;AF052510;AF148464;AK022741;AK226121;AK296333;AK315323;AMYH02039050;AMYH02039051;AMYH02039052;AMYH02039053;BC045634;BG942820;CH471074;EU181262;HB883417;HC940826;NG_013253;NM_001163264;NM_001163265;NM_004845 AAC39754;AAD35088;AAH45634;ABW03924;BAG37725;BAG59022;CBF65932;CBU90804;EAW99021;EAW99022;EAW99023;NP_001156736;NP_001156737;NP_004836;Q9Y5K3 Hs.660708 1699674;2110107 RH103442;UniSTS:470563 CCT B;CCT-beta;CCTB;CT B;CTB CTP:phosphocholine cytidylyltransferase b;OTTHUMP00000023085;OTTHUMP00000023086;OTTHUMP00000023087;choline-phosphate cytidylyltransferase B;phosphorylcholine transferase B APPROVED protein-coding ENSG00000102230 HGNC:8755 05376 604926 REVIEWED 1349017 PDB1 Paget disease of bone 1 ASSOCIATED WITH Osteitis Deformans (inferred) 7240710 5131 HGNC:8757 167250 1352563 PDB2 Paget disease of bone 2 9345096;9626621 8171 HGNC:8758 1350371 PDB4 Paget disease of bone 4 ASSOCIATED WITH Osteitis Deformans (inferred); Paget Disease Of Bone 4 (inferred) 7240710 11473345 94003 1336709;1339760;7186262 D5S1972;D5S642 HGNC:16033 602080;606263 1352364 PDB5 Paget disease of bone 5 140777 HGNC:17951 1345204 PDB6 Paget disease of bone 6 140778 HGNC:17952 737380 PCYT1A phosphate cytidylyltransferase 1, choline, alpha ENCODES a protein that exhibits choline-phosphate cytidylyltransferase activity (ortholog); INVOLVED IN CDP-choline pathway (ortholog); phosphatidylcholine biosynthetic process (ortholog); PARTICIPATES IN glycerophospholipid metabolic pathway; ASSOCIATED WITH Abnormality of macular pigmentation (inferred); Autosomal recessive inheritance (inferred); Brachydactyly syndrome (inferred); FOUND IN endoplasmic reticulum membrane (ortholog); glycogen granule (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; carmustine 3 3 3 q29 194546889 194595863 - 195961239 196014623 - 196238382 196287713 - 1580863;6480464;6907045;8699517;8554872;7240710 10480912;12052891;12477932;14702039;15069071;16964243;17081983;17184542;19737740;20360068;20661636;20662904;21139048;2155660;21693764;21906983;21963094;22505724;22863883;22990118;24387990;24387991;24816145;24889630;2833521;7726555;7918629;8155650;8810902;9166786;9224626 5130 B4E322;C9J050;C9J2E1;C9JEJ2;C9JPY0;C9JVS0;F8WAZ5;F8WBU2;H7BZN1;H7C1T3;P49585 ABBA01033724;ABBA01033725;ABBA01033726;ABBA01033727;ABBA01033728;ABBA01033729;AC069257;AC246794;AF088041;AK001567;AK129838;AK304534;AK309073;AK309300;AK313450;AMYH02008479;AMYH02008480;BC042043;BC046355;CH471191;EU280320;L28957;NM_005017 AAA72127;AAH46355;ABX44666;BAG36238;BAG65334;EAW53655;EAW53662;NP_005008;P49585 Hs.135997;Hs.732774 1653917;1701246;1768270;2172166;2181502;7186672 A007I23;RH104251;SHGC-36945;SHGC-57653;STS-L28957 CCT A;CCT-alpha;CCTA;CT;CT A;CTA;CTPCT;PCYT1;SMDCRD CTP:phosphocholine cytidylyltransferase A;OTTHUMP00000208442;OTTHUMP00000208443;OTTHUMP00000208444;OTTHUMP00000208447;choline-phosphate cytidylyltransferase A;phosphorylcholine transferase A protein-coding HGNC:8754 00438 123695;608940 PROVISIONAL 731023 PCSK9 proprotein convertase subtilisin/kexin type 9 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 1 1 1 p32.3 53792769 53818130 + 55505149 55530526 + 55039476 55064853 + 1580998;1580999;1581000;1581001;1581002;1626106;6480464;7240710;8554872;8699517 12730697;14727179;15772090;16554528;16619215;17380167 10205269;12477932;12552133;14622975;14702039;14727156;15099351;15166014;15178557;15358785;15654334;15741654;15893176;16159606;16183066;16211558;16224054;16314752;16344560;16407292;16465619;16571601;16875509;16909389;16912035;16989838;17051583;17080197;17081983;17101087;17142622;17170371;17316651;17328821;17351764;17391637;17435765;17449864;17452316;17461796;17495605;17502100;17537735;17539906;17550346;17599443;17645871;17702855;17765244;17804797;17940607;17971861;18006936;18028451;18039650;18039658;18052825;18193043;18193044;18197702;18245819;18250299;18262190;18266662;18280815;18300938;18343176;18343183;18354102;18354137;18355829;18406350;18436227;18498363;18499582;18559913;18570182;18631360;18649882;18652535;18660751;18675252;18680192;18708425;18710658;18753623;18799458;19001363;19022446;19060325;19060906;19081568;19148283;19179626;19191301;19191720;19196236;19198609;19222187;19224862;19265033;19282863;19319977;19336475;19351729;19578796;19619878;19635789;19667110;19687008;19713274;19762784;19773416;19797716;19828345;19843101;19878649;19913121;19917273;19948975;20006333;20031582;20031607;20145306;20163833;20167577;20172854;20186155;20236128;20308432;20333646;20400780;20448210;20452593;20453200;20498851;20529551;20538126;20571754;20579540;20589640;20619837;20623344;20628086;20677014;20679960;20686565;20691829;20699424;20714348;20716520;20734064;20738937;20864672;20884874;20937814;20971364;20972250;21040917;21069265;21115573;21122852;21122860;21147780;21149300;21196532;21324305;21332221;21378990;21497351;21502677;21539517;21596380;21619378;21692990;21763412;21771976;21805236;21805237;21813713;21829380;21847580;21889145;21920719;21963094;22001517;22005270;22027821;22074827;22081141;22095935;22176652;22207727;22286219;22288532;22300679;22331829;22375030;22417841;22460556;22493497;22544364;22611251;22679642;22683120;22683370;22714699;22764087;22809551;22825241;22848640;22875854;22916037;23085658;23105118;23106476;23135270;23283366;23300213;23308045;23329883;23333725;23380568;23380588;23400816;23422832;23430252;23450051;23466067;23499248;23509406;23535506;23537802;23553812;23559630;23593297;23623011;23663650;23669246;23675525;23726366;23743349;23775089;23788249;23817198;24097068;24103783;24122718;24134510;24144304;24225950;24296664;24308640;24315769;24404629;24486405;24625727;24632287;24808179 255738 B4DEZ9;Q8NBP7 ABBA01074699;AC091609;AK075365;AK122717;AK124635;AK293870;AK297473;AL589790;AMYH02001062;AX127530;AX207686;AY829011;BC042095;CH471059;DA738424;EF692496;FJ525880;JB758443;JC289583;JC332586;NG_009061;NM_174936;NR_110451 AAI66619;AAV67948;ABV59216;ACN81318;BAC11572;BAC85910;BAG57260;BAG59894;CAC38896;CAC60361;CDI44158;CDM55545;CDM55691;EAX06660;NP_777596;Q8NBP7 Hs.18844 1334819;1338503;1643968;1796484;2165974 D1S2722;D1S2892;PCSK9_1729;RH18483;RH65068 FH3;HCHOLA3;LDLCQ1;NARC-1;NARC1;PC9 OTTHUMP00000009833;convertase subtilisin/kexin type 9 preproprotein;neural apoptosis regulated convertase 1;neural apoptosis-regulated convertase 1;proprotein convertase 9;subtilisin/kexin-like protease PC9 APPROVED protein-coding ENSG00000169174 HGNC:20001 07080 603776;607786 REVIEWED 732125 PCSK5 proprotein convertase subtilisin/kexin type 5 This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014] 9 9 9 q21.3 49083010 49551972 + 78505560 78977255 + 75890644 76362339 + 1580863;6480464;8554872 10037747;10409610;10657249;10888676;10900462;11063880;11076863;11230166;11256614;11380615;11723118;11776387;12477932;12787574;14702039;15489336;15522936;15601911;15606899;15911696;16189514;16344560;16381901;16713569;16912035;17242158;18039650;18061232;18096669;18245819;18343183;18519639;19010793;19764806;19884766;19913121;20031622;20379614;20555025;20581395;20628086;20881960;21078624;21094132;21116278;21273245;21700711;21805236;21805237;21890473;21971156;22679642;22740495;22959728;23088713;23149075;23319000;23409034;23563607;23686857;23775089;24252756;7782070;8125298;8615794;8620001;8670066;8755538;8755541;8901832;8940009;8947550;9067430;9521771 5125 B1AMG5;B1AMG8;Q5JSG7;Q92824 ABBA01033898;ABBA01033899;ABBA01033900;ABBA01033901;ABBA01033902;ABBA01033903;ABBA01033904;ABBA01033905;ABBA01033906;AI379031;AK023096;AK056202;AK122718;AK225773;AK310862;AL353607;AL359253;AL391868;AL589653;AL834522;AMYH02021018;AMYH02021019;AMYH02021020;AX805769;AX805771;BC012064;BM719207;CH471089;CK023649;CN360310;DA992221;DB491139;DT932737;DV080167;DY655633;HY155058;NG_029445;NM_001190482;NM_006200;NR_120409;U49114;U56387;XM_005252039 AAA91807;AAC50643;AAH12064;ABM83253;ABM86457;BAG51646;CAD39178;CAE75579;CAE75580;CAL38077;EAW62575;EAW62576;EAW62577;NP_001177411;NP_006191;Q92824;XP_005252096 Hs.368542;Hs.732073 1334786;1341307;1652672;1664862;1667679;1718371;1719493;1755963;1762547;1763181;1764997;1765489;1771164;1777177;1787110;2162699;2172620;2184989;5024413;7186142 D9S1807;D9S1974;D9S1997;D9S276;G34998;G35008;L17877;RH122958;RH123466;RH48203;SHGC-142784;SHGC-146362;SHGC-146910;SHGC-148548;SHGC-148973;SHGC-155149;SHGC-32247;SHGC-37380;WI-15571 FLJ11149;FLJ16215;PC5;PC6;PC6A;SPC6;hPC6 OTTHUMP00000021497;OTTHUMP00000021498;OTTHUMP00000021499;prohormone convertase 5;proprotein convertase 5;proprotein convertase 6;proprotein convertase PC5;protease PC6;subtilase;subtilisin/kexin-like protease PC5 APPROVED protein-coding ENSG00000099139 HGNC:8747 08985 600488 REVIEWED 1351056 PDCD10 programmed cell death 10 This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 3 3 3 q26.1 165800144 165851087 - 167401692 167452693 - 167683735 167734902 - 6480464;7240710;8699517;8554872 12477932;15489334;15543491;16189514;16239636;16284570;16329096;16380626;16730941;16769843;17212813;17353931;17360971;17657516;18035376;18300272;18782753;19056867;19088123;19088124;19199464;19246713;19370760;19423540;19506228;19688696;19738201;20301470;20332113;20360068;20406964;20419355;20438785;20489202;20592472;20623299;20668527;20677014;20682288;20854465;20862502;21029238;21041308;21139048;21632544;21890473;22053931;22291017;22623428;22652780;22750858;22863883;23000965;23383273;23388056;23455922;23485406;23541896;24007869;24058906;24816145;9811928 11235 C9J363;C9J5C3;C9J6F3;C9J932;C9JND6;C9JSA3;F8WDF3;H7C5M9;Q9BUL8 ABBA01058725;AC079822;AF022385;AK291130;AMYH02008083;BC002506;BC016353;CH471052;CR457107;NG_008158;NM_007217;NM_145859;NM_145860;XM_005247086;XM_005247087;XM_005247088;XM_006713485 AAB72225;AAH02506;AAH16353;ABM83509;ABM86725;BAF83819;CAG33388;EAW78574;EAW78575;EAW78576;EAW78577;EAW78578;EAW78579;EAW78580;EAW78581;NP_009148;NP_665858;NP_665859;Q9BUL8;XP_005247143;XP_005247144;XP_005247145;XP_006713548 Hs.478150 1708210 SHGC-79363 CCM3;MGC1212;MGC24477;TFAR15 OTTHUMP00000212918;OTTHUMP00000212919;OTTHUMP00000212920;OTTHUMP00000212921;OTTHUMP00000212924;OTTHUMP00000212925;OTTHUMP00000212953;OTTHUMP00000212954;OTTHUMP00000212955;OTTHUMP00000212956;OTTHUMP00000212957;OTTHUMP00000212958;TF-1 cell apoptosis-related protein 15;apoptosis-related protein 15;cerebral cavernous malformations 3 protein;programmed cell death protein 10 APPROVED protein-coding ENSG00000114209 HGNC:8761 10141 603285;609118 REVIEWED 736348 PCYT2 phosphate cytidylyltransferase 2, ethanolamine This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 17 17 17 q25.3 76464784 76473410 - 79860777 79869340 - 81902901 81911477 - 1580863;6480464;6907045 12477932;14697519;14702039;15489334;16023412;16189514;17207965;17612623;18583706;18976975;21139048;21900206;21906983;22339418;22863883;24519946;24654937;24802409;24816145;9083101;9370320 5833 B3KSC8;B7Z4W6;I3L102;I3L1C4;I3L1F9;I3L1L9;I3L1R7;I3L2Q1;I3L3V9;I3NI16;Q99447 ABBA01019652;ABBA01019653;AC145207;AK093328;AK297996;AK301723;AK315777;AK316385;AMYH02034143;AY251539;AY953521;BC000351;BC010075;BX419403;BX459568;CA411562;CH471099;CR456779;D84307;HB883419;HC940828;HY031003;HY042603;NM_001184917;NM_001256433;NM_001256434;NM_001256435;NM_001282203;NM_001282204;NM_002861;XM_005256386;XM_005256387;XM_006722287 AAH00351;AAH10075;ADQ32426;BAA12311;BAG52690;BAH12702;BAH13541;BAH14756;CAG33060;CBF65933;CBU90805;EAW89705;NP_001171846;NP_001243362;NP_001243363;NP_001243364;NP_001269132;NP_001269133;NP_002852;Q99447;XP_005256443;XP_005256444;XP_006722350 Hs.569843 1734504;1796770;2108229;2136473;2147142 D17S1450E;MAFG__7350;RH44900;RH65676;SIRT7_1731 ET CTP:phosphoethanolamine cytidylyltransferase;ethanolamine-phosphate cytidylyltransferase;phosphorylethanolamine transferase APPROVED protein-coding HGNC:8756 04059 602679 REVIEWED 733658 PDAP1 PDGFA associated protein 1 The protein encoded by this gene is a phosphoprotein that may upregulate the PDGFA-stimulated growth of fibroblasts and also downregulate the mitogenicity of PDGFB. The encoded protein in rodents has been shown to bind PDGFA with a low affinity. [provided by RefSeq, Dec 2010] 7 7 7 q22.1 93726788 93740492 - 98992296 99006305 - 99394673 99408682 - 632905;1580863;6480464 8780057 11331882;12477932;12853948;15302935;15489334;19738201;21139048;21832049;21890473;21906983;22113938;22412018;24816145;8889548;9847074 11333 F8WBW6;Q13442 AA464753;ABBA01013263;ABBA01013264;AC004922;AMYH02016360;BC000684;BC001578;BC007873;BC039130;BC071993;BE543808;BF037671;BG281467;BI460344;BQ215882;CB852527;CH236956;CH471091;NG_028040;NM_014891;U41745;U65960 AAB07135;AAC50462;AAF03506;AAH00684;AAH07873;EAW76674;EAW76675;EAW76676;NP_055706;Q13442 Hs.632296 1659192;1673482;1683475;2108859;2133778;5037552;7186347 D8S2279;GDB:4585391;PDAP1_9266;RH47278;RH75270;STS-W92745 HASPP28;PAP;PAP1 28 kDa heat- and acid-stable phosphoprotein;OTTHUMP00000206311;PDGF associated protein;PDGF-associated protein;PDGFA-associated protein 1 APPROVED protein-coding ENSG00000106244 HGNC:14634 06149 607075 REVIEWED 733734 PDCD2 programmed cell death 2 This gene encodes a nuclear protein expressed in a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010] 6 6 6 q27 171681705 171689005 - 170884660 170893780 - 170575572 170584692 - 6480464 11854457;12149646;12477932;14574404;14702039;14743216;15231747;15489334;15848047;16311922;17468402;18486760;19056867;19146857;19615732;19955554;19958059;20605493;21139048;22922207;23000965;23760497;24255178;24381196;25036637;7606924 5134 F5GWT2;F5H4V9;F5H739;H0YFM2;H0YFS8;H0YFZ5;J3QK82;Q16342 ABBA01030857;AJ420535;AK055180;AK297343;AL031259;AMYH02015014;AW966881;AY948416;AY948417;BC008378;BC015835;BC067759;BG721244;BX385363;CH471051;DC351104;NM_001199461;NM_001199462;NM_001199463;NM_001199464;NM_002598;NM_144781;S78085;XM_006715498;XR_427972 AAB34865;AAH08378;AAH67759;AAX51225;AAX51226;ABM84401;ABM87344;BAG59795;EAW47413;EAW47414;EAW47415;EAW47416;EAW47417;NP_001186390;NP_001186391;NP_001186392;NP_001186393;NP_002589;NP_659005;Q16342;XP_006715561 Hs.367900 1644564;1663277;1669724;1684546;1688304;1754269;1768149;1774290;1774292;1797976;2123287;2144378;2168994;2185915 A005Y04;D6S1167E;D6S1434;G20589;PDCD2_2441;RH39860;RH40415;RH46730;SGC36937;SHGC-132283;SHGC-183;SHGC-31353;STS-N37094;WI-11564 MGC12347;RP8;ZMYND7 OTTHUMP00000017701;OTTHUMP00000017702;OTTHUMP00000239306;OTTHUMP00000239307;OTTHUMP00000239309;OTTHUMP00000239312;OTTHUMP00000239314;programmed cell death 2/Rp8 homolog;programmed cell death protein 2;zinc finger MYND domain-containing protein 7;zinc finger protein Rp-8 APPROVED protein-coding ENSG00000071994 HGNC:8762 02922 600866 REVIEWED 1601844 PDCD2L programmed cell death 2-like FOUND IN membrane; INTERACTS WITH 2-methylcholine; 4-phenylbutyric acid; cadmium atom 19 19 19 q13.11 31607732 31629517 + 34895300 34917073 + 34404398 34426168 + 6480464 12477932;15489334;16311922;17207965;17393540;18486760;18854154;19946888;21139048;21145461;21890473;22505724;24250222;25036637 84306 Q9BRP1;U3KQL1 ABBA01018719;AC008747;AC092073;AMYH02035958;BC006146;NM_032346 AAH06146;ADQ32690;NP_115722;Q9BRP1 Hs.515344 1698916 RH103027 MGC13096 programmed cell death protein 2-like protein-coding ENSG00000126249 HGNC:28194 17480 615661 PROVISIONAL 737392 PDC phosducin This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q25.2 159523438 159540966 - 186412698 186430240 - 186443566 186461108 - 1580863;6480464;7240710;8554872 10708513;10753654;10866677;10884381;11287646;11331285;12107411;12477932;12500174;14758335;15604093;16421094;16710414;18029348;19454010;19959875;20804785;21191291;2210381;22365573;2383274;2394752;7961975;8188267;8288249;8288259;8889548;9020189;9551090;9701609;9843381 5132 P20941;Q52LP8 ABBA01027704;AF076464;AF172075;AL596220;AL663036;AMYH02002312;AMYH02002313;BC093839;BC112134;BM674109;BM715757;BQ636049;CH471067;EL945964;M33478;M38058;M38059;M60720;NG_009101;NM_002597;NM_022576 AAA35486;AAA36210;AAD43142;AAH93839;AAI12135;AAI48617;AAI53183;EAW91212;EAW91213;EAW91214;EAW91215;NP_002588;NP_072098;P20941 Hs.654381 1644705;2108347;2180793 D1S3537;PDC_8528;SHGC-76031 MEKA;PHD;PhLOP;PhLP 33 kDa phototransducing protein;33kDA phototransducing protein;G beta gamma binding protein;OTTHUMP00000033581;OTTHUMP00000217169;phosducin-like orphan protein APPROVED protein-coding ENSG00000116703 HGNC:8759 01373 118800;171490 REVIEWED 7241979 PDCD4-AS1 PDCD4 antisense RNA 1 10 10 10 q25.2 106360256 106362270 - 112628648 112630662 - 110868890 110870904 - 14702039 282997 ABBA01063020;AK093606;AK097703;AL136368;AMYH02023801;NR_026932 Hs.599931 5014063 D15S1390 ncrna HGNC:27425 PREDICTED 1354347 PDCD11 programmed cell death 11 PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008] 10 10 10 q24.33 98896345 98945951 + 105156387 105206052 + 103396630 103446295 + 1580863;6480464;8554872 10229231;12429849;12477932;14624448;15489334;15887232;16169070;17081983;17654514;19332556;19471022;19596686;21139048;21145461;21252943;21282530;21890473;22108332;22174317;22178446;22505724;22586326;22751105;22990118;23602568;23752268;23974872;24457600;24639526;24816145;8724849 22984 Q14690;S4R3Q4 ABBA01063100;AK294971;AK307418;AL139339;AL591408;AL603983;AMYH02023724;BC007698;BC023615;BC049838;BC064486;BC080560;BC111040;BM476302;CH471066;D80007;NM_014976;XM_005269647 AAH49838;AAH64486;AAH80560;AAI11041;AAI72442;BAA11502;BAG58043;EAW49639;EAW49640;EAW49641;NP_055791;Q14690;XP_005269704 Hs.239499 1644680;1685357;1854591;2155686;2165841;5122499 RH25399;RH44688;RH93896;SHGC-33513;STS-N39580;STS-Z40746 ALG-4;ALG4;KIAA0185;NFBP;RRP5 NF-kappa-B-binding protein;OTTHUMP00000020409;apoptosis-linked gene 4;programmed cell death protein 11;protein RRP5 homolog APPROVED protein-coding ENSG00000148843 HGNC:13408 18752 612333 VALIDATED 8549004 PDCD5P1 programmed cell death 5 pseudogene 1 12 12 19566086 19566522 + 19413152 19413588 + 100527946 ABBA01067940;AC091805;AMYH02026136;NG_027977 pseudo HGNC:49885 INFERRED 1323231 PDCD1 programmed cell death 1 This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 236456683 236465707 - 242792033 242801058 - 241849881 241858908 - 1580863;6480464;6907045;7248672;7248677;7248679;7248676;7248681;7248675;7248680;7240710;7248673;7248674;7248678 15352422;15934088;16352741;17228327;17363529;19116915;21041733;21518556;22432050;23219834 10677248;10677315;11224527;12095712;12402038;12477932;12517932;12719480;12893276;1396582;14617032;14730631;15022318;15188352;15322919;15334473;15818672;15883854;15912506;15959535;16171790;16227604;16265694;16278812;16471222;16493037;16917489;16921384;16954372;16956940;16988698;17002900;17024563;17064404;17130567;17136123;17203303;17272504;17311651;17344889;17468813;17490403;17535987;17567698;17570250;17603844;17610472;17641065;17721918;17868872;17885290;17942371;17963598;17968013;17999073;18037500;18041714;18042085;18056444;18067228;18069935;18096476;18160439;18171281;18173375;18174230;18203952;18250483;18294387;18322304;18337305;18401354;18440040;18448390;18455515;18490780;18494554;18510628;18549878;18550794;18566376;18578969;18594468;18676751;18680238;18707923;18756934;18768824;18771758;18799583;18822202;18830259;18925909;18981091;19035512;19050238;19056397;19058313;19074163;19095563;19141860;19147248;19160029;19197939;19202444;19220647;19224853;19234630;19263877;19332785;19380770;19395117;19420358;19423728;19439344;19449188;19468750;19500502;19505258;19539220;19564339;19581275;19651643;19695683;19739236;19759858;19794071;19800335;19811417;19811426;19828602;19900372;19949078;19959217;19998245;20012629;20066438;20070620;20087161;20113370;20128032;20185964;20381020;20388336;20445553;20447384;20473887;20506224;20514052;20518841;20587542;20617899;20636820;20657553;20661763;20668808;20677149;20693422;20700634;20709947;20738778;20819923;20825974;20826917;20837075;20848568;20881011;20883163;20886079;20890291;20943073;20959405;20975732;21064032;21084749;21091911;21110433;21113674;21148500;21161353;21237493;21263070;21268005;21269571;21276005;21291295;21328438;21346771;21376795;21383382;21408177;21442435;21481848;21487727;21514692;21547439;21562156;21645441;21651862;21652684;21659460;21712100;21717461;21791547;21795591;21851845;21856939;21868077;21876620;21907333;21908482;21912640;21914188;21927903;21943489;21961966;21982860;21989349;22039410;22042085;22105417;22133721;22152383;22153879;22205715;22246361;22274654;22322668;22342451;22397719;22430646;22441249;22466343;22503210;22532845;22549384;22635166;22722467;22740686;22742708;22797302;22892379;22894700;22895698;22900886;22916009;22956035;23041554;23087177;23101188;23189845;23209326;23220495;23247480;23267208;23288508;23291409;23297127;23300177;23331211;23373967;23383287;23398844;23403273;23417675;23426717;23458521;23504559;23521696;23610399;23620109;23628397;23661793;23732914;23742646;23772031;23773130;23792703;23869988;23888327;23907003;23918986;23922299;24035365;24057239;24083425;24114613;24118875;24127452;24138884;24148296;24151955;24240160;24269013;24270737;24375192;24463978;24510967;24643836;24657340;24667641;24708420;24926091;24928021;25015854;7851902;9141617;9332365;9843982;9843983 5133 E7ER21;H0Y2W6;Q15116 ABBA01006067;AC131097;AF363458;AI928135;AK313848;AMYH02006122;AY206416;AY238517;AY322430;BC074740;CH471063;CR988122;EF064716;HH957981;L27440;NG_012110;NM_005018;U64863;U64864;XM_006712573;XM_006724986 AAC41700;AAC51773;AAC51774;AAH74740;AAN64003;AAO25116;AAO63583;AAP85379;ABK41899;BAG36577;CBX51254;EAW71298;NP_005009;Q15116;XP_006712636;XP_006725049 Hs.158297 2153158;2217702 PDCD1_1679;RH71365 CD279;PD-1;PD1;SLEB2;hPD-1;hPD-l;hSLE1 OTTHUMP00000199883;programmed cell death protein 1;systemic lupus erythematosus susceptibility 2 APPROVED protein-coding ENSG00000188389 HGNC:8760 02590 126200;600244;605218 REVIEWED 1314998 PDCD1LG2 programmed cell death 1 ligand 2 INVOLVED IN negative regulation of T cell proliferation (inferred); positive regulation of T cell proliferation (inferred); T cell costimulation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 5-fluorouracil; carboplatin; cisplatin 9 9 9 p24.2 5436182 5496918 + 5510512 5571282 + 5510512 5571282 + 1580863;6480464 11224527;11283156;12477932;12538684;12893276;14515261;14702039;14724428;15164053;15253154;15340161;15489334;15837746;16278812;16598819;17136123;17203303;17311651;17343323;17597384;18203952;18322304;18378285;18479731;18566376;18992148;19729380;19739236;20066438;20390427;20445553;20587542;20661763;20682852;20709947;20722638;21457347;21752471;21791547;21876620;22067141;22322668;22895698;23388330;23533995;24270737;24497532;24532425 80380 Q2LC89;Q9BQ51 ABBA01065412;ABBA01065413;AF329193;AF344424;AK001872;AL162253;AMYH02019084;AMYH02019085;AY254343;AY271901;AY271902;BC074766;BC113678;BC113680;BC143920;BC143921;BX951459;CA442083;CH471071;DQ336699;EF444806;NM_025239;XM_005251600;XM_005251601;XM_005251602 AAH74766;AAI13679;AAI13681;AAK15370;AAK31105;AAP13471;AAP49000;AAP49001;ABC59616;ABO33153;ADR82896;EAW58762;NP_079515;Q9BQ51;XP_005251657;XP_005251658;XP_005251659 Hs.532279;Hs.617872 1680843;1690564;1693606;1851091;2219472 PDCD1LG2__5847;RH81014;RH93992;SHGC-58521;WI-18154 B7-DC;B7DC;Btdc;CD273;MGC142238;MGC142240;PD-L2;PDCD1L2;PDL2;bA574F11.2 B7 dendritic cell molecule;OTTHUMP00000021030;PD-1 ligand 2;PD-1-ligand 2;PDCD1 ligand 2;butyrophilin B7-DC;programmed death ligand 2 protein-coding ENSG00000197646 HGNC:18731 16147 605723 VALIDATED 8549094 PDCD5P2 programmed cell death 5 pseudogene 2 5 5 75576741 75577226 + 76280916 76281401 + 100527947 ABBA01061954;AC113404;AMYH02011602;NG_027978 pseudo HGNC:49886 INFERRED 1321536 PDCD5 programmed cell death 5 This gene encodes a protein that is upregulated during apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protein may be an important regulator of K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and cell cycle control) by inhibiting its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010] 19 19 19 q13.11 29765756 29771983 + 33072071 33078358 + 32581167 32587452 + 1580863;6480464 11741587;12477932;12665801;14702039;15033527;15302935;15489334;16083422;16083554;16169070;16361542;16461635;16547588;16549820;17081983;17468978;17605845;18029348;18401719;18695908;19088824;19308289;19358820;19615732;19616514;19738201;19789190;19957502;20047520;20120772;20349137;20360068;20398626;20453000;20561417;20872801;21139048;21165576;21572988;21890473;21900206;21906983;21963094;22053931;22253891;22261045;22372375;22412018;22505724;22688731;22883196;22914926;22965478;23000965;23322062;23327497;23349634;23369618;23377640;23443559;23455924;23656249;23688867;23807738;24173774;24250222;24265335;24343129;24375412;24469044;24654937;24816145;8889548;9920759 9141 K7EQA1;K7ESJ4;O14737;Q3HM38;X6R2P6 AB209040;ABBA01039596;AC008474;AF014955;AK124774;AK293486;AMYH02035920;BC015519;BM696336;BT006694;CR456934;DN915905;DQ208400;N40187;NM_004708;XM_005259392 AAD11579;AAH15519;AAP35340;ABA60375;ABM84503;ABM85537;BAD92277;BAG56975;CAG33215;NP_004699;O14737;XP_005259449 Hs.443831 1679054;1846789;5037552 D8S2279;RH41963;RH44366 FLJ42784;MGC9294;TFAR19 TF-1 cell apoptosis-related protein 19;TF1 cell apoptosis-related gene 19;TFAR19 novel apoptosis-related;programmed cell death protein 5 APPROVED protein-coding ENSG00000105185 HGNC:8764 06843 604583 REVIEWED 8549097 PDCD6IPP1 PDCD6IP pseudogene 1 15 15 q 23128407 23145997 - 22727104 22744699 + 100861430 ABBA01040234;ABBA01040235;AC011767;AC138649;AMYH02030038;NG_031996 pseudo HGNC:49872 INFERRED 8549005 PDCD6IPP2 PDCD6IP pseudogene 2 15 15 15 q13.1 9116 13014 - 29034980 29101720 + 28789834 28856574 + 16344560 646278 ABBA01042008;ABBA01042009;ABBA01042010;AC055876;AC174071;AC243657;AMYH02030123;DB073810;NR_037599 Hs.590143 pseudo HGNC:49873 PROVISIONAL 732159 PDCD4 programmed cell death 4 (neoplastic transformation inhibitor) This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 10 10 10 q24 106363204 106391372 + 112631553 112659764 + 110871795 110900006 + 6480464;6484113 10632927;10640828;12054647;12477932;12898601;15082783;15144186;15153438;15164054;15317660;15489334;15592455;16344560;16357133;16385451;16449643;16682950;16964243;17053147;17081983;17297470;17353931;17620012;17828298;17849461;17955371;17982621;17991735;18029348;18296639;18296647;18372920;18386173;18427550;18457901;18476625;18549351;18793349;19013014;19031945;19153607;19204291;19296468;19322201;19471022;19493270;19615732;19633292;19641183;19672202;19682430;19728867;19784072;19836969;19946272;20359850;20372781;20471435;20498644;20514454;20560677;20595005;20656320;20702469;20735432;20800603;20831814;21139048;21163940;21254647;21279518;21330826;21454508;21469387;21546206;21602271;21643008;21693764;21781452;21809556;21850542;21890473;21894439;21906983;21934092;21949999;21955614;21959934;21963094;21983937;22033922;22111549;22113938;22133680;22200873;22203471;22212233;22213145;22267128;22272332;22289349;22335905;22353043;22359108;22419096;22431522;22586265;22669845;22675936;22728051;22761399;22770403;22801218;22863883;22907752;22939629;22986533;23000965;23056346;23212265;23219426;23224068;23296900;23312883;23314309;23383273;23389919;23417858;23441172;23463506;23469214;23486359;23536002;23564788;23578931;23604124;23606399;23824073;23838800;23877371;23904372;24098127;24157866;24196965;24250222;24334141;24334270;24413684;24500709;24650454;24659669;24764298;24778037;25002506;8125298;8543179;9759869 27250 B4DKX4;Q53EL6;Q5VZS7 ABBA01063020;AK223623;AK296753;AK312540;AK315295;AL049932;AL136368;AL158163;AMYH02023801;BC015036;BC026104;BC031049;BI910668;BX537500;BX641168;BX647834;CH471066;DB241608;NM_001199492;NM_014456;NM_145341;U83908;U96628;XM_005269702;XM_006717767 AAB42218;AAB67706;AAH15036;AAH26104;AAH31049;ABM82571;ABM85760;BAD97343;BAG35439;BAG37701;BAG59336;EAW49552;EAW49553;EAW49554;NP_001186421;NP_055271;NP_663314;Q53EL6;XP_005269759;XP_006717830 Hs.711490 1673808;1754713;1789252;1796486;1851165;2140131;2191557;5022576;5024571;5122361 D1S1361;G65626;MARC_26204-26205:1030736270:1;PDCD4_1402;RH44657;RH44872;RH93337;SHGC-133074;SHGC-35716;SHGC-64020 H731;MGC33046;MGC33047 OTTHUMP00000020483;neoplastic transformation inhibitor protein;nuclear antigen H731;nuclear antigen H731-like;programmed cell death protein 4;protein 197/15a APPROVED protein-coding ENSG00000150593 HGNC:8763 10549 608610 REVIEWED 1344096 PDCL2 phosducin-like 2 This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008] 4 4 4 q12 53924722 53960420 - 56422686 56458418 - 55556519 55592251 - 6480464;8554872 11329013;12424248;12477932;15489334;19193988 132954 Q8N4E4 ABBA01003414;AC024243;AMYH02009243;AMYH02009244;AMYH02009245;AW629089;BC034431;BG198696;CH471057;NM_152401;XM_005265728 AAH34431;EAX05469;NP_689614;Q8N4E4;XP_005265785 Hs.223712 1756729 SHGC-143847 GCPHLP OTTHUMP00000218694;phosducin-like protein 2 APPROVED protein-coding ENSG00000163440 HGNC:29524 15109 611676 REVIEWED 1320124 PDCL3 phosducin-like 3 This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 95384039 95397821 + 101179418 101193201 + 100562956 100576739 + 1580863;6480464 12424248;12477932;15371430;15489334;17207965;17429077;18029348;19322201;20360068;21139048;21890473;23792958;24250222;24816145 79031 C9JST4;H7BZP2;Q9H2J4 ABBA01073928;ABBA01073929;AC068538;AF110511;AF267853;AI741007;AK300827;AK313985;AMYH02004413;BC001021;BG819099;BI820064;CH471127;NM_024065 AAG21887;AAG44722;AAH01021;AAX93227;ADQ33173;BAG36697;BAH13356;EAX01837;EAX01838;NP_076970;Q9H2J4 Hs.469459 1762543;2129001 SHGC-146357;SHGC-57056 HTPHLP;MGC3062;PHLP2A;PHLP3;VIAF;VIAF-1;VIAF1;phPL3 IAP-associated factor VIAF1;OTTHUMP00000203204;phosducin-like protein 3;viral IAP-associated factor 1 APPROVED protein-coding HGNC:28860 17827 611678 VALIDATED 1319039 PDCD7 programmed cell death 7 This gene encodes a 59 kDa protein that is associated with the U11 small nuclear ribonucleoprotein (snRNP), which is a component of the minor U12-type spliceosome responsible for catalyzing pre-mRNA splicing of U12-type introns. [provided by RefSeq, Dec 2010] 15 15 15 q22.31 42287881 42304338 - 65409717 65426174 - 65117379 65133836 - 1580863;6480464 10037816;12477932;14702039;15146077;15231748;15489334;15840729;16169070;16484223;17505986;18347052;19322201;21139048;21832049;21906983;22939629;24416201;24550385;8125298 10081 H3BT73;Q6IEG3;Q8N8D1 ABBA01038861;AC013553;AF083930;AK096970;AK225816;AK303203;AMYH02030619;AMYH02030620;AMYH02030621;BC016992;BC092464;BC131704;BK005196;BT007395;CH471082;NM_005707;XM_005254108 AAD20241;AAH16992;AAH92464;AAI31705;AAP36059;BAC04915;BAG64293;DAA05494;EAW77713;EAW77714;NP_005698;Q8N8D1;XP_005254165 Hs.458596 1658391;1736500;1743311;5014051;5022200;5022578;5037552 D15S707E;D1S1423;D8S2278;D8S2279;GDB:314809;L18426;SGC30454 ES18;FLJ54213;HES18;MGC22015 OTTHUMP00000164150;U11/U12 snRNP 59K;apoptosis-related protein ES18;programmed cell death protein 7 APPROVED protein-coding ENSG00000090470 HGNC:8767 09736 608138 REVIEWED 1354070 PDCL3P1 phosducin-like 3 pseudogene 1 8 8 8 q12.1 57288863 57289593 + 61299760 61300751 + 60387201 60388192 + 392225;448836 ABBA01041809;AC022555;AC132834;AMYH02018052;NG_022420 1340236;1695864;1695872;1698416;1728361;1752909;2116944;2176049 D8S1088;D8S1177;G17265;G63462;RH102752;SHGC-106778;SHGC-78810;SHGC-78817 pseudo HGNC:31826 INFERRED 5684196 PDCL3P2 phosducin-like 3 pseudogene 2 8 8 8 q22.3 99068722 99069706 - 102883823 102884807 - 101871595 101872579 - 643831 ABBA01037599;AMYH02018523;AP001206;NG_005684 pseudo HGNC:31705 INFERRED 68505 PDCD6IP programmed cell death 6 interacting protein This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012] 3 3 3 p22.3 33783127 33854073 + 33840063 33911199 + 33798571 33869707 + 1580863;6480464;6907045 10200558;10718198;11683497;11883939;12034747;12360406;12477932;12588984;12771190;12860994;12927788;14505569;14505570;14519844;14583093;14678797;14702039;14739459;14999017;15195070;15231748;15326289;15456872;15489334;15509564;15557335;15849434;15914539;16004603;16169070;16234236;16344560;16470130;16764724;17014699;17081065;17082185;17158451;17166905;17174262;17196169;17229889;17250865;17277784;17350527;17350572;17353931;17389591;17428861;17556548;17601348;17673164;17853893;17927229;17982468;18005675;18029348;18032513;18066081;18076669;18256029;18380665;18476810;18477395;18511562;18641129;18644787;18684393;18936101;18940611;18948538;19016654;19020832;19064259;19099395;19143627;19143629;19143631;19254034;19282983;19322201;19393081;19403673;19520058;19523902;19531213;19542561;19596386;19639585;19692479;19706535;19738201;19802344;19906316;19912576;19946888;20018238;20156100;20360068;20379614;20519395;20562859;20605035;20639865;20653365;20669987;20670214;20691033;20800603;20929444;20936779;20962096;21129143;21139048;21145461;21191027;21248028;21252943;21394083;21518163;21528537;21543492;21715492;21738476;21762796;21762798;21786200;21889351;21890473;21900206;21906983;21963094;21987572;21988832;22004035;22053931;22162750;22421880;22505724;22547407;22558309;22586326;22589738;22623428;22641034;22660413;22754649;22761998;22771033;22833563;22844345;22863883;22896625;22939629;22969426;22981647;23000965;23027949;23088713;23201121;23266279;23305486;23527201;23602568;23664863;23777424;23824909;23862649;23895345;23924735;24024966;24250222;24257210;24287454;24457600;24637612;24712823;24816145;25015289;25027693;25118280;7829101;8889548;9647693;9880530 10015 C5MQH7;C9IZF9;F8WBR8;F8WDK9;F8WEQ7;Q8WUM4 AB037796;ABBA01024897;ABBA01024898;AC112220;AC123901;AF151793;AF250394;AF349951;AI346371;AK002122;AK295042;AK298727;AL695629;AMYH02006523;AMYH02006524;AMYH02006525;BC020066;BC068454;BI492166;BI562417;BM669193;BQ024882;BQ895877;BT007367;BU165197;BU194828;CH471055;CR739098;DA149360;DA652213;GQ131806;NG_033961;NM_001162429;NM_001256192;NM_013374 AAF08220;AAH20066;AAH68454;AAK20398;AAP36031;AAQ14260;ACS12984;BAA92092;BAA92613;BAG58093;BAH12857;EAW64468;EAW64469;NP_001155901;NP_001243121;NP_037506;Q8WUM4 Hs.475896 1672808;1680311;1694602;1756621;1769998;2120620;2142934;2164013;2217704;5092676;5114681 A005P37;Cda1ef02;D9S1961;G32258;G43299;PDCD6IP_3260;RH48396;RH93901;SHGC-143660;SHGC-76820;STS-R60314 AIP1;Alix;DRIP4;HP95;MGC17003 ALG-2 interacting protein 1;ALG-2 interacting protein X;ALG-2-interacting protein 1;ALG-2-interacting protein X;OTTHUMP00000161316;PDCD6-interacting protein;apoptosis-linked gene 2-interacting protein X;dopamine receptor interacting protein 4;programmed cell death 6-interacting protein APPROVED protein-coding ENSG00000170248 HGNC:8766 06425 608074 REVIEWED 735514 PDCL phosducin-like Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008] 9 9 9 q12-q13 96228719 96239278 - 125580376 125590935 - 122818097 122828656 - 633731;1580863;6480464 10095058 10524200;10884381;10899582;11076863;11230166;11256614;12060742;12466282;12477932;15489334;15489336;15585822;15604093;15745879;15889144;16381901;16717095;17081983;19322201;19376773;19403526;20098747;21139048;23251661;23888055;25036637;8248177 5082 H0Y3M0;H0Y5D3;Q13371 ABBA01043717;AF031463;AF083324;AF083325;AK024980;AK313429;AL117602;AL359512;AMYH02021593;BC017227;BQ775109;BX369420;CH471090;NM_005388;U38236 AAA79724;AAC78848;AAC78849;AAD01930;AAH17227;ABM84005;ABM87338;BAG36221;CAB56011;CAL38288;EAW87546;NP_005379;Q13371 Hs.271749;Hs.620774 1644941;1654864 D9S2066;SHGC-58111 DKFZp564M1863;PhLP OTTHUMP00000022069;phosducin-like protein APPROVED protein-coding ENSG00000136940 HGNC:8770 05108 604421 REVIEWED 1322592 PDCD6 programmed cell death 6 This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012] 5 5 5 p15.33 370282 413335 + 271736 315089 + 271621 314974 + 1580863;6480464 10744743;10858458;11108958;11278427;11591653;11606059;11883899;11883939;12034747;12372597;12445460;12445461;12477932;12522145;12804766;12819013;14702039;14999017;15161933;15366927;15489334;15635413;15925322;16004603;16132846;16189514;16957052;17045351;17110338;17196169;17214967;17955473;18256029;18940611;18957060;18997320;19056867;19520058;19738201;19864416;20000738;21139048;21145461;21893193;21906983;21988832;22142513;22161137;22369209;22623428;22712728;22863883;22939629;23137875;23167403;23350699;23383273;23443559;23551056;23649269;23824909;24078636;24250222;24778252;8125298;8560270;9880530 10016 D6RA21;E7EPW6;H0Y9X3;O75340;Q53FC3;Q86W51 ABBA01034261;AC021087;AC118458;AF035606;AK001917;AK024175;AK124302;AK128087;AK223366;AK295082;AK308872;AK310347;AK315370;AMYH02010746;AMYH02010747;AW300963;BC012384;BC028242;BC050597;BC106706;BC110291;BG390506;BI553617;BT020072;CH471235;CR983268;DB495449;NM_001267556;NM_001267557;NM_001267558;NM_001267559;NM_013232;NR_073609;U58773 AAC27697;AAF14336;AAH12384;AAH50597;AAI06707;AAI10292;AAV38875;ABM82089;ABM85270;BAC87267;BAD97086;BAG37763;BAG58124;EAW50987;EAW50990;EAW50991;NP_001254485;NP_001254486;NP_001254487;NP_001254488;NP_037364;O75340 Hs.50823 1334912;1739581;1740511;2115487;2148154;2172752;5037552;5124529 D5S1924E;D5S2300E;D5S392;D8S2279;L28364;RH47205;RH65518;SGC34338 ALG-2;FLJ42309;FLJ46208;MGC111017;MGC119050;MGC9123;PEF1B OTTHUMP00000115318;OTTHUMP00000221465;OTTHUMP00000221473;OTTHUMP00000221474;apoptosis-linked gene 2 protein;apoptosis-linked gene-2;probable calcium-binding protein ALG-2;programmed cell death protein 6 APPROVED protein-coding ENSG00000249915 HGNC:8765 03035 601057 REVIEWED 8552525 PDCL2P1 phosducin-like 2 pseudogene 1 X X X p22.11 27338118 27338510 + 23216435 23216827 + 23198318 23198710 + 653707 ABBA01072156;AC004673;AMYH02039022;CH471074;NG_023356 EAW98992 pseudo HGNC:50340 VALIDATED 7174896 PDCL3P3 phosducin-like 3 pseudogene 3 3 3 3 p24.3 17857184 17858114 - 17918758 17919688 - 17877266 17878196 - 100132683 ABBA01025117;AC104297;AMYH02006354;NG_022197 pseudo HGNC:44504 INFERRED 7174794 PDCL3P4 phosducin-like 3 pseudogene 4 3 3 3 q12.3 99824379 99825361 + 101431278 101432260 + 101712434 101713416 + 14702039 285359 ABBA01061770;AC084198;AK022267;AMYH02007317;NR_002941 Hs.720825 5022322 D11S2560 pseudo HGNC:44505 VALIDATED 7174938 PDCL3P5 phosducin-like 3 pseudogene 5 6 6 6 q25.1 151882620 151883615 + 151148761 151149756 + 150827625 150828620 + 644850 ABBA01025654;AL035086;AMYH02014711;NG_006960 2129001 SHGC-57056 pseudo HGNC:44506 INFERRED 7174871 PDCL3P6 phosducin-like 3 pseudogene 6 1 1 1 50932965 50933844 + 52645487 52646366 + 52179815 52180694 + 100419023 ABBA01074778;AL139156;AMYH02001015;NG_027092 pseudo HGNC:44507 INFERRED 7174981 PDCL3P7 phosducin-like 3 pseudogene 7 12 12 12 q14.3 66333954 66334670 - 66669713 66670429 - 66275933 66276649 - 390340 ABBA01026575;AC078889;AMYH02026679 pseudo HGNC:44508 MODEL 1604948 PDDC1 Parkinson disease 7 domain containing 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; all-trans-retinoic acid 11 11 11 p15.5 1 924 + 767222 777501 - 767222 777501 - 6480464;8554872 12477932;14702039;16169070;16344560;19056867;21139048;21832049;24250222;24816145 347862 B7Z1J9;E9PLI5;E9PQD8;H0YE25;H0YER3;H0YF25;Q8NB37 ABBA01015209;ABBA01015210;AK091602;AK092816;AK128653;AK293559;AK309153;AMYH02024152;AP006621;BC110868;BC112145;BC143415;BC143416;BC143418;BC143419;BC143420;BC143421;BC143422;BC143423;BU625376;CH471158;DA025348;NM_182612;XM_005252898;XR_242802 AAI10869;AAI12146;AAI43417;AAI43419;AAI43421;BAC03706;BAC03983;BAC87551;BAH11535;EAX02380;EAX02381;EAX02382;NP_872418;Q8NB37;XP_005252955 Hs.218362 1762775;2156510;5014051;5015619;5015961;5016478;5016596;5020740;5020948;5021872;5022463;5022578;5023327;5024039;5037552;5117897;5118444 D11S3114;D11S3316;D15S1477;D16S325;D1S1423;D3S1673;D8S2278;D8S2279;G35510;GDB:434012;GDB:631802;GDB:631813;L17809;L18023;SHGC-146559;STS-T72208;sY3084 FLJ34283;FLJ35497;MGC131881;MGC138350 OTTHUMP00000165135;OTTHUMP00000229255;OTTHUMP00000229718;OTTHUMP00000229721;OTTHUMP00000229724;Parkinson disease 7 domain-containing protein 1 protein-coding ENSG00000177225 HGNC:26616 08172 VALIDATED 1606683 PDE12 phosphodiesterase 12 ENCODES a protein that exhibits metal ion binding (inferred); poly(A)-specific ribonuclease activity (inferred); INVOLVED IN mRNA processing (inferred); RNA phosphodiester bond hydrolysis, exonucleolytic (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 2-methylcholine; atrazine; crocidolite asbestos 3 3 3 p14.3 57555770 57561606 + 57541882 57640704 + 57556254 57562041 + 6480464 12477932;14702039;15231837;16196087;19615732;20445249;20877624;21139048;21145461;21245038;21666256;21890473;21906983;21987572;22863883;22939629;23000965;23314748;24654937;25027693 201626 F6T1Q0;Q6L8Q7 AB115695;ABBA01024414;ABBA01024415;AC092418;AK001526;AK074423;AK300374;AL831824;AMYH02006872;BC034978;BX647169;CH471055;NM_177966 ACE86992;ACE87622;ACE87681;BAB85079;BAD20938;BAG62110;CAD38538;EAW65342;EAW65343;NP_808881;Q6L8Q7 Hs.572993 1653184;1671766;1689983;2182204;5020948;5093556;5109281 A009Q36;D1S1425;G30967;G32788;G35510;RH93850;STS-H05970 2'-PDE;2-PDE 2',5'-phosphodiesterase 12;2'-phosphodiesterase;OTTHUMP00000213138;mitochondrial deadenylase protein-coding HGNC:25386 11842 VALIDATED 68649 PDE10A phosphodiesterase 10A The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011] 6 6 6 q26 166478886 166814271 - 165740776 166075588 - 165327287 165662100 - 1580863;1300048;2312479;6480464;6907045;8554872 17376027 10373451;10393245;10441464;10998054;11156964;11602184;12477932;12549820;14574404;14702039;15489334;15938621;16169070;16330539;18514160;18635550;19689430;19913121;20201926;20298200;20351714;20379614;20526340;20585324;20610737;20628086;20816195;21139048;21494592;22890011;23408906;23691025;24353339;8557689 10846 Q9Y233 AB020593;AB026816;AB041798;ABBA01015089;ABBA01015090;ABBA01015091;AF127479;AF127480;AI632009;AK021956;AK098543;AK297555;AL117345;AL121789;AL136130;AL160160;AMYH02014951;AMYH02014952;AMYH02014953;AMYH02014954;BC104858;BC104860;BC143297;BC143301;CH471051;CR536567;CS158635;DR000181;KF458352;KF458359;NG_031878;NM_001130690;NR_045597;XM_006715321 AAD32595;AAD32596;AAI04859;AAI04861;BAA78034;BAA84467;BAB16383;BAB92963;BAG59948;CAG38804;CAJ29925;EAW47546;NP_001124162;Q9Y233;XP_006715384 Hs.348762 1334598;1645039;1697508;1713965;1722167;1723775;1726685;1751337;1772946;1796488;2142136;2183636 D6S1719;G09347;G60135;G62579;PDE10A_370;RH102256;RH118625;RH119412;RH15826;RH37465;RH63721;SHGC-105173 FLJ11894;FLJ25677;HSPDE10A OTTHUMP00000017586;cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;dJ416F21.1 (phosphodiesterase 10A);phosphodiesterase 10A1 (PDE10A1) APPROVED protein-coding ENSG00000112541 HGNC:8772 17828 610652 REVIEWED 735556 PDE1B phosphodiesterase 1B, calmodulin-dependent The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] 12 12 12 q13 54595042 54624893 + 54943177 54973023 + 54549393 54579239 + 1580863;1300048;2312479;6480464;6907045;8554872 17376027 11156964;11747989;12477932;1326532;14687666;15342556;15345747;15489334;15625104;16344560;16407168;17726023;18029348;19913121;20493887;20628086;21044950;21900206;23129425;8557689;8855339;9003415;9419816 5153 B4DK72;F8VZK3;Q01064;Q7Z364 AB209200;ABBA01008375;ABBA01008376;AC068789;AC079310;AJ401609;AK126899;AK296422;AK302899;AK302931;AMYH02026537;BC032226;BP342896;BX538092;CH471054;DA254686;DC298452;DC392024;M94539;NG_029621;NM_000924;NM_001165975;NM_001288768;NM_001288769;U40584;U56976;U86077;U86078;XM_006719451 AAA58405;AAB50018;AAC50769;AAC51871;AAC51872;AAH32226;ABM82599;ABM85785;BAD92437;BAG54390;BAG59084;BAG64072;BAG64092;CAC82207;CAD98011;EAW96788;EAW96789;EAW96790;EAW96791;NP_000915;NP_001159447;NP_001275697;NP_001275698;Q01064;XP_006719514 Hs.530871 1671034;1765069;2152849;2179633;2191393;2217706 A007D03;MARC_21181-21182:1027091922:1;PDE1B_3295;RH44485;RH78688;SHGC-148605 PDE1B1;PDES1B 63 kDa Cam-PDE;OTTHUMP00000242271;OTTHUMP00000242273;OTTHUMP00000242274;Phosphodiesterase-1B;calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B;calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase;calmodulin-stimulated phosphodiesterase PDE1B1;cam-PDE 1B;phosphodiesterase IB, calmodulin-dependent;presumed 63kDa form of the type 1 cyclic nucleotide phosphodiesterase family known as PDE1B APPROVED protein-coding ENSG00000123360 HGNC:8775 01388 171891 REVIEWED 730957 PDE2A phosphodiesterase 2A, cGMP-stimulated ENCODES a protein that exhibits cAMP binding; cGMP binding; cGMP-stimulated cyclic-nucleotide phosphodiesterase activity; INVOLVED IN cAMP catabolic process; cAMP-mediated signaling; cellular response to cGMP; PARTICIPATES IN protein kinase A (PKA) signaling pathway; purine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; cytosol; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 11 11 11 q13.4 69589446 69690059 - 72287184 72385497 - 72576140 72674453 - 1580863;1300048;2312479;6480464;6907045;8554872 17376027 10375378;11156964;12038792;12271124;12477932;14687666;14702039;15650061;15938621;16344560;17329248;17704206;19252089;19390057;19506089;19689430;19828435;19913121;20351714;20395239;20628086;21697861;21724846;21766240;21987572;22446963;23381931;23810893;23899287;8557689;9210593 5138 C9JPD5;E9PEF1;F5GXX2;F5H130;F5H143;F5H1D7;F5H2R8;F5H2V7;F5H2Z0;F5H3Z7;F5H5P8;H0YFL1;H0YG13;H0YGL2;H7C009;O00408;Q8IW54 ABBA01017534;ABBA01017535;AI498038;AK092278;AK095024;AK131525;AK295676;AK312434;AMYH02025077;AMYH02025078;AMYH02025079;AP003065;AP005019;AY495087;AY495088;BC040974;BI760519;CH471076;DA219662;DA227593;DA243617;DA325165;DA329075;DA332549;DA504595;DA801834;DB068707;NM_001143839;NM_001146209;NM_001243784;NM_002599;U67733;XM_005274040 AAC51320;AAH40974;AAS75513;AAS75514;BAD18664;BAG35343;BAG52517;BAG52972;BAG58533;EAW74861;EAW74862;NP_001137311;NP_001139681;NP_001230713;NP_002590;O00408;XP_005274097 Hs.503163 1337501;1667994;1739297;1749593;1758959;1774615;2108349;2111200;2190947;7186713 D11S1314;D11S1379E;D2S1960E;MARC_12039-12040:1004039373:1;PDE2A_222;SHGC-111281;SHGC-150621;SHGC-3230;WI-13191 CGS-PDE;PDE2A1;PED2A4;cGSPDE OTTHUMP00000128215;OTTHUMP00000128216;OTTHUMP00000128217;OTTHUMP00000237359;OTTHUMP00000237360;OTTHUMP00000237361;cGMP-dependent 3',5'-cyclic phosphodiesterase;cGMP-stimulated phosphodiesterase 1;cGMP-stimulated phosphodiesterase 4;cyclic GMP-stimulated phosphodiesterase protein-coding ENSG00000186642 HGNC:8777 04041 602658 VALIDATED 737612 PDE11A phosphodiesterase 11A The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q31.2 172090836 172575966 - 178487977 178973066 - 177623249 178108339 - 1580863;2312479;6480464;6907045;7240710;8554872;8699517 17376027 10725373;10906126;11050148;11121118;11156964;11502204;12477932;14702039;15489334;15538396;15800651;15800654;15815621;15995148;16079899;16330539;16767104;17008408;17178847;18043711;18312413;18491255;18559625;19214142;19429701;19549888;19557111;19671705;19689430;19913121;20110084;20351714;20379614;20628086;20881257;20881960;20920776;21047926;21697861;22996146;23583979;7935318;8557689;9847074 50940 F8WDQ4;H0Y6P9;H7C4D0;Q9HCR9 AB036704;AB038041;AB048423;ABBA01062238;ABBA01062239;ABBA01062240;ABBA01062241;AC011998;AC012499;AC073834;AC073892;AC083824;AF281865;AI919276;AJ251509;AJ278682;AK074273;AK127194;AK294076;AMYH02005315;AMYH02005316;AMYH02005317;AMYH02005318;AMYH02005319;AMYH02005320;AMYH02005321;AMYH02005322;BC112393;BC114431;BX105579;BX649056;CH471058;HM771389;HM771390;HM771391;KF510770;NG_012168;NM_001077196;NM_001077197;NM_001077358;NM_016953 AAG32023;AAI12394;AAI14432;AAX93113;AAY14803;AAY24130;ADV69110;ADV69111;BAB16371;BAB16372;BAB62712;BAB62713;BAB62714;BAG57418;CAB82573;CAC15567;EAX11047;EAX11048;EAX11049;EAX11050;EAX11051;NP_001070664;NP_001070665;NP_001070826;NP_058649;Q9HCR9 Hs.570273 1340589;1645783;1681428;1702552;1709300;1713801;1796490;2131064;2134817;2151619;5016352;5016700;7187510 D2S2757;D2S300;G10440;G16409;GDB:451846;L30021;PDE11A_1016;RH120788;RH79802;RH91242;SHGC-37408;SHGC-85849 FLJ23693;MGC133355;MGC133356;PPNAD2 OTTHUMP00000205269;OTTHUMP00000205270;OTTHUMP00000205271;OTTHUMP00000205272;OTTHUMP00000205273;cAMP and cGMP cyclic nucleotide phosphodiesterase 11A;cAMP and cGMP phosphodiesterase 11A;cyclic nucleotide phosphodiesterase 11A;dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A APPROVED protein-coding ENSG00000128655 HGNC:8773 05391 604961;610475 REVIEWED 734436 PDE3A phosphodiesterase 3A, cGMP-inhibited This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 12 12 12 p12 25677589 25989565 + 20522179 20840575 + 20368087 20687641 + 1580863;1300048;2300416;2312479;1582528;2300415;6480464;6907045;8554872 12466227;12793980;17376027;9648839 10421499;10679291;11115397;11156964;12038792;12154085;12477932;12773402;1315035;14702039;15041473;15161933;15489334;16153182;16172121;16873361;16964243;17332439;17392505;17704206;18391951;19252089;19261611;19478329;19584346;19913121;20031603;20089840;20586925;20628086;20686565;21963094;22479202;22569225;22863883;23008439;23444366;23651021;24097068;24376456;8155697;8557689;8695850;8889548;8921398;9173884 5139 Q14432 ABBA01067955;ABBA01067956;AC112777;AC129029;AC129102;AJ005036;AK095203;AK308317;AMYH02026159;AMYH02026160;AMYH02026161;BC117369;BC117371;BQ024709;BQ187047;BX646774;CH471094;M91667;NG_030033;NM_000921;NM_001244683;U36798;XM_006719086;XM_006719087 AAA35912;AAB18673;AAI17370;AAI17372;CAA06304;EAW96406;NP_000912;NP_001231612;Q14432;XP_006719149;XP_006719150 Hs.386791;Hs.737522 1298164;1656244;1686724;1704214;1717867;1717885;1761143;1768722;1782534;1791866;1852643;2125061;2181835 D12S1682;G11803;G22294;PMC128323P1;RH11286;RH122765;RH122774;RH26361;SHGC-106913;SHGC-145148;SHGC-35793;SHGC-83125;STS-M91667 CGI-PDE;CGI-PDE A;CGI-PDE-A;FLJ37884 OTTHUMP00000239825;cAMP phosphodiesterase, myocardial cGMP-inhibited;cGMP-inhibited 3',5'-cyclic phosphodiesterase A;cyclic GMP inhibited phosphodiesterase A;cyclic GMP-inhibited phosphodiesterase A APPROVED protein-coding ENSG00000172572 HGNC:8778 00441 123805 REVIEWED 68458 PDE1A phosphodiesterase 1A, calmodulin-dependent Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 family, such as PDE1A, are Ca(2+)/calmodulin (see CALM1; MIM 114180)-dependent PDEs (CaM-PDEs) that are activated by calmodulin in the presence of Ca(2+) (Michibata et al., 2001 [PubMed 11342109]; Fidock et al., 2002 [PubMed 11747989]).[supplied by OMIM, Oct 2009] 2 2 2 q32.1 176602916 176983707 - 183004762 183387572 - 182140035 182523380 - 1580863;1300048;2312479;6480464;6907045;8554872 17376027 10405764;11156964;11329013;11342109;11369604;11747989;11991719;12135876;12477932;15272012;15489334;16344560;16514069;17726023;18043711;18335582;19214142;19557111;19913121;20110084;20379614;20628086;20807569;21832049;21963094;22012077;8557689;8889548 5136 B7Z226;B7Z3A7;B7Z7A2;P54750;Q9Y633 AA846454;AB038224;AB038227;AB038228;ABBA01062291;ABBA01062292;ABBA01062293;ABBA01062294;ABBA01062295;ABBA01062296;ABBA01062297;ABBA01062298;ABBA01062299;AC010888;AC011291;AC012500;AF110235;AF110236;AF110237;AF110238;AF110239;AJ401610;AK130643;AK294239;AK295657;AK301720;AL110263;AL536937;AMYH02005364;AMYH02005365;AMYH02005366;AMYH02005367;BC022480;BC047057;BG196993;BM719913;CH471058;DA128734;DA295167;DB128091;DB512285;DC396228;NM_001003683;NM_001258312;NM_001258313;NM_001258314;NM_005019;U40370;XM_005246635;XM_005246636;XM_005246637;XM_006712574;XM_006712575;XM_006712576;XM_006712577;XM_006712578;XM_006712579 AAC50436;AAD40737;AAD40738;AAD40739;AAD40740;AAD40741;AAH22480;AAY14812;AAY14837;ABM83295;ABM84298;ABM86504;ABM87693;BAB20037;BAB20038;BAB20049;BAB20050;BAB20051;BAB20052;BAB20053;BAB20054;BAB20055;BAB20056;BAB20057;BAH11712;BAH12143;BAH13538;CAB53703;CAC82208;EAX10965;EAX10966;EAX10967;EAX10968;EAX10969;EAX10970;EAX10971;EAX10972;EAX10973;EAX10974;EAX10975;NP_001003683;NP_001245241;NP_001245242;NP_001245243;NP_005010;P54750;XP_005246692;XP_005246693;XP_005246694;XP_006712637;XP_006712638;XP_006712639;XP_006712640;XP_006712641;XP_006712642 Hs.191046;Hs.742174 1298269;1654022;1661904;1704532;1715185;1717813;1718045;1752489;1752893;2137937;2187617;5015619;5020948;5022450;7185301 A005C38;D10S275;D11S3114;D2S1673E;D2S364;G35510;RH119843;RH121817;RH122639;RH45793;SHGC-106375;SHGC-106801;SHGC-83063;WIAF-1570 61 kDa Cam-PDE;CAM-PDE-1A;HCAM-1;HCAM1;HSPDE1A;MGC26303;cam-PDE 1A 3',5' cyclic nucleotide phosphodiesterase;OTTHUMP00000163419;OTTHUMP00000205289;OTTHUMP00000205290;calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A;calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase;calmodulin-dependent phosphodiesterase;phosphodiesterase-1A APPROVED protein-coding ENSG00000115252 HGNC:8774 01387 171890 VALIDATED 68463 PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa Cyclic nucleotide phosphodiesterases (PDEs) catalyze hydrolysis of the cyclic nucleotides cAMP and cGMP to the corresponding nucleoside 5-prime-monophosphates. Mammalian PDEs have been classified into several families based on their biochemical properties. Members of the PDE1 family, such as PDE1C, are calmodulin (see MIM 114180)-dependent PDEs (CaM-PDEs) that are stimulated by a calcium-calmodulin complex (Repaske et al., 1992 [PubMed 1326532]).[supplied by OMIM, Oct 2009] 7 7 7 p14.3 31779557 32325238 - 31791666 32339016 - 31752052 32299404 - 1580863;2312479;6480464;6907045;8554872 17376027 11156964;11369604;11834707;12477932;12853948;1326532;14702039;16344560;16455054;17726023;18335582;19240061;20110084;20379614;23472165;23509613;8557689 5137 B3KSS6;F8W905;Q14123 ABBA01056825;ABBA01056826;ABBA01056827;ABBA01056828;ABBA01056829;ABBA01056830;ABBA01056831;ABBA01056832;ABBA01056833;ABBA01056834;AC004931;AC005589;AC006377;AC007033;AC007093;AC018637;AK056170;AK091734;AK094180;AMYH02015471;AMYH02015472;AMYH02015473;AMYH02015474;AMYH02015475;BC022479;BC022525;BQ020305;CH471073;DA023468;DA025688;DA030384;DA221214;DA249465;KF458425;KF458427;KF511018;KF511020;NM_001191056;NM_001191057;NM_001191058;NM_001191059;NM_005020;U40371;U40372;XM_005249768;XM_005249769 AAA96961;AAC29142;AAC50437;AAH22479;AAH22525;AAS07516;ABM84569;ABW03312;BAC03734;BAG51638;BAG52838;EAW93984;EAW93985;EAW93986;EAW93987;NP_001177985;NP_001177986;NP_001177987;NP_001177988;NP_005011;Q14123;XP_005249825;XP_005249826 Hs.728862 1298114;1337334;1665497;1668620;1671392;1711858;1750291;1754477;1768355;1772467;1776507;2122174;2126899;2135549;2140220;2145002;2146857;2149303;2160160;2168767;2172472;2177159;2219474;7183809;7187038;7187785 A004F24;AFM190YH2;D7S1392;D7S1660;D7S1834;D7S2252;D7S2844;D7S3045;D7S3055;D7S722;D7S795;D7S817;G17174;G49461;GDB:1317182;GDB:1318410;GDB:3754398;GDB:6028491;PDE1C_4139;RH18056;RH18057;SHGC-112503;SHGC-132749 Hcam3;cam-PDE 1C;hCam-3 Human 3',5' cyclic nucleotide phosphodiesterase (HSPDE1C1A);OTTHUMP00000123469;OTTHUMP00000123470;OTTHUMP00000123471;OTTHUMP00000202647;OTTHUMP00000202648;calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C APPROVED protein-coding ENSG00000154678 HGNC:8776 04287 602987 VALIDATED 737080 PDE4A phosphodiesterase 4A, cAMP-specific The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] 19 19 19 p13.2 10426030 10475005 + 10527449 10580307 + 10416773 10469631 + 1580863;1300048;2302430;2312479;2302429;6480464;6907045 16190900;17376027;17397885 10206997;10393044;11114167;11156964;11296225;11306681;11566027;11839681;11852080;11994273;12477932;12764607;12810716;14759258;15047569;15489334;15738310;16257373;16300476;16856845;16940352;17404263;17576803;17704206;18095939;19018233;19047098;19642024;19759179;19913121;20082309;20086095;20193079;20196770;20467438;20554760;20600853;20628086;20813835;21161247;2160582;21652625;21732365;21898905;22484154;23008439;23043089;24227907;24616094;7772058;7888306;8009369;8413254;8940140;9371714;9677330 5141 K7EKV1;K7ENX7;P27815 ABBA01029926;ABBA01029927;ABBA01029928;ABBA01029929;ABBA01029930;ABBA01029931;ABBA01029932;AC011461;AC011529;AC011548;AF069491;AF073745;AF178570;AMYH02035495;AMYH02035496;AMYH02035497;AMYH02035498;AW138155;AY266362;AY593872;AY618547;BC019864;BC038234;BE266386;BQ009232;CH471106;L20965;L20967;M37744;NG_029594;NM_001111307;NM_001111308;NM_001111309;NM_001243121;NM_006202;S75213;U18087;U18088;U68532;U97584;XM_005259933;XM_006722765 AAA03588;AAA03590;AAA69697;AAA98540;AAB33798;AAC25679;AAC35012;AAC35013;AAC35014;AAC35015;AAC50458;AAC63832;AAD34217;AAG13805;AAG13806;AAH19864;AAH38234;AAP31234;AAT00628;AAU82096;ABM83374;ABM86586;EAW84104;EAW84105;EAW84106;EAW84107;EAW84108;EAW84109;NP_001104777;NP_001104778;NP_001104779;NP_001230050;NP_006193;P27815;XP_005259990;XP_006722828 Hs.89901 1680497;1790375;2130624 G06567;PDE4A;RH98678 DPDE2;PDE4;PDE46 cAMP-specific 3',5'-cyclic phosphodiesterase 4A;cAMP-specific phosphodiesterase;phosphodiesterase 4A, cAMP-specific (dunce;phosphodiesterase 4A, cAMP-specific (phosphodiesterase E2 dunce homolog, Drosophila);phosphodiesterase E2 dunce homolog;phosphodiesterase E2 dunce homolog, Drosophila;phosphodiesterase isozyme 4 APPROVED protein-coding ENSG00000065989 HGNC:8780 02527 600126 REVIEWED 8694007 PDE4DIP1 phosphodiesterase 4D interacting protein pseudogene 1 1 1 1 q21.2 9 3545 - 147552869 147566057 + 148080599 148093780 + 728920 AC239803;AL356004;BX842679;NG_005957 pseudo HGNC:50867 INFERRED 732966 PDE3B phosphodiesterase 3B, cGMP-inhibited ENCODES a protein that exhibits protein kinase B binding (ortholog); INVOLVED IN cAMP catabolic process; negative regulation of angiogenesis; negative regulation of cell adhesion; PARTICIPATES IN insulin signaling pathway; protein kinase A (PKA) signaling pathway; purine metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN guanyl-nucleotide exchange factor complex; membrane; endoplasmic reticulum (ortholog); INTERACTS WITH 17beta-estradiol; copper atom; copper(0) 11 11 11 p15.1 14790352 15020727 + 14665191 14893605 + 14643645 14872059 + 1580863;2312479;6480464;6907045;8554872 17376027 10454575;10952971;11156964;11640991;11641262;11839681;12453887;12477932;12765845;15147193;16395595;16476736;16702214;17255105;17884339;18586889;19569180;19913121;20628086;21152070;21393242;21724851;21890473;21963837;22001403;22479202;22505724;22649097;8163498;8557689;8626720;8706823;8884271;8921398 5140 A7E2E5;Q13370 AB209326;ABBA01061099;ABBA01061100;ABBA01061101;ABBA01061102;AC018795;AC087207;AC090835;AMYH02024359;AMYH02024360;AMYH02024361;AY459346;BC136565;BC136566;BC144248;BC150307;CH471064;D50640;NM_000922;U38178;X95520;X95522;XM_005252972;XM_006718249 AAC50724;AAI36566;AAI36567;AAI44249;AAI46829;AAI50308;AAI50323;AAR24292;BAA09306;BAD92563;CAA64774;CAA64776;EAW68474;EAW68475;NP_000913;Q13370;XP_005253029;XP_006718312 Hs.445711 1342384;1683988;1761735;1767807;2139487;5015961;5022322;5037552 D11S2560;D11S4193;D15S1477;D8S2279;RH16485;RH80346;SGC34479;SHGC-145708 CGI-PDE B;CGIP1;HcGIP1;cGIPDE1 OTTHUMP00000231474;OTTHUMP00000231475;cGMP-inhibited 3',5'-cyclic phosphodiesterase B;cyclic GMP-inhibited phosphodiesterase B;cyclic nucleotide phosphodiesterase protein-coding ENSG00000152270 HGNC:8779 03626 602047 VALIDATED 732674 PDE5A phosphodiesterase 5A, cGMP-specific This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 4 4 4 q27 117795077 117929505 - 120415550 120549981 - 119494395 119628826 - 1581008;2314459;2314460;2314461;2314462;2314463;2314464;2314469;2314519;2314521;2314468;2314520;2314465;2314467;2314466;6480464;6907045;7775056;7248685 15578039;15665834;15667904;15920460;17287493;17339532;17606845;17610866;18538317;18787522;19129291;19474186;19542492;19729580;19881228;20563733;22270721 10393044;10411650;10679249;10679255;10859452;11076863;11162575;11230166;11358813;11602184;11896473;12359732;12477932;12554648;12604588;12650945;12955149;14668322;14687666;14764637;15093609;15175637;15240816;15489334;15489336;15640438;15817798;15938621;16381901;16407275;16690614;17017938;17138653;17906676;18029348;18293931;18635550;18757735;19139381;19852267;19961855;19996273;20177899;20196613;20308615;20332099;20332439;20346360;20351714;20379614;20491634;20553468;20555034;20590607;20595799;20861010;21193396;21215707;21421555;21425347;21505183;21525805;2168396;21697861;21736695;21890473;21987443;22843873;22960860;23033484;23527037;24112792;8557689;8889548;9115850;9642111;9714779;9716380 8654 C9JGT3;G5E9C5;H0YA14;O76074 AB001635;AB015656;ABBA01044712;ABBA01044713;ABBA01044714;ABBA01044715;ABBA01044716;AC080089;AC093752;AF043731;AF043732;AF155192;AF155193;AF155194;AF155195;AF319172;AJ004865;AK290189;AMYH02009989;AY264918;AY266363;BC126233;BM920622;BM978332;CD511199;CH471056;JQ286346;NM_001083;NM_033430;NM_033437 AAC63967;AAC63968;AAF40301;AAF40302;AAF40303;AAF40304;AAF40305;AAI26234;AAK08016;AAP21809;AAP31235;AAY40985;AEW91484;BAA33372;BAA81667;BAF82878;CAA06170;CAL37565;CAL37613;CAL37823;CAL37914;CAL38049;CAL38148;CAL38189;CAL38304;CAL38310;CAL38326;CAL38689;EAX05275;EAX05276;EAX05277;EAX05278;NP_001074;NP_236914;NP_246273;O76074 Hs.647971 1647330;1664445;1669081;1683561;1688346;1707990;1714941;1751959;1847055;1858514;2111135;2123178;2130773;2164021;2164023;2167225;2182719;2184483;2217708 A005V23;D4S1496E;D4S2545E;G16884;G20536;PDE5A_3019;RH120466;RH99284;SHGC-105975;SHGC-30471;SHGC-50306;SHGC-50828;SHGC-51775;SHGC-57812;SHGC-59290;SHGC-67646;SHGC-67914;SHGC-84659;SHGC4-1692 CGB-PDE;CN5A;PDE5;PDE5A1 OTTHUMP00000163923;OTTHUMP00000163924;cGMP-binding cGMP-specific 3',5'-cyclic nucleotide phosphodiesterase;cGMP-binding cGMP-specific phosphodiesterase;cGMP-specific 3',5'-cyclic phosphodiesterase;cGMP-specific phosphodiesterase PDE5A2;cGMP-specific phosphodiesterase type 5A;phosphodiesterase isozyme 5 APPROVED protein-coding ENSG00000138735 HGNC:8784 04497 603310 REVIEWED 733361 PDE4B phosphodiesterase 4B, cAMP-specific This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] 1 1 1 p31 64548796 65130612 + 66258193 66840262 + 65792510 66374579 + 1580863;1300048;2312479;6480464;6907045;8554872 17376027 10385698;10846163;11114167;11156964;11468344;11839681;12032334;12441002;12477932;14585965;14702039;15003452;15146197;15174051;15260978;15331441;15576036;15685167;16293762;16344560;16997058;17043677;17088426;17404263;17417055;17481393;17519386;17727341;17728464;17823207;17903301;18029348;18329668;18394866;18687753;18785206;18983980;19060910;19240061;19251251;19350560;19506219;19632097;19728060;19834503;19913121;20201926;20347962;20379614;20436352;20628086;20701803;21047676;21184794;21358715;21520048;21595828;21652625;21742807;21854221;21906983;22160351;22384243;22529021;22566634;22610099;22832604;23007406;23451206;23575688;24722188;7835077;7958996;8009369;8384210;8392015;8413254;9371714;9882697 5142 E9PJ03;E9PMG3;E9PNB0;E9PR34;H0YCV7;Q07343;Q59GM8;X5DNX5 AA206316;AA453531;AB209081;ABBA01074534;ABBA01074535;ABBA01074536;ABBA01074537;ABBA01074538;ABBA01074539;AK000989;AK127365;AK289969;AK290006;AK290206;AK294441;AL109926;AL357273;AL359701;AL513493;AL590783;AL591487;AL592285;AMYH02001184;AMYH02001185;AMYH02001186;AMYH02001187;AMYH02001188;AMYH02001189;AMYH02001190;AMYH02001191;AW519027;BC036108;BC046161;BC071607;BC101480;BC105040;BF513098;CH471059;CN268011;CR749667;DA103627;DA126733;DA311741;DA332822;DC399916;EF595686;GM837077;KJ534916;KJ534917;KJ535082;L12685;L12686;L20966;M97515;NG_029038;NM_001037339;NM_001037340;NM_001037341;NM_001297440;NM_001297441;NM_001297442;NM_002600;U85048;XM_005270923;XM_005270924;XM_005270925;XM_005270926;XM_006710680 AAA03589;AAA35642;AAA35643;AAA36426;AAB96381;AAI01481;AAI05041;ABQ85407;AHW56556;AHW56557;AHW56721;BAD92318;BAF82658;BAF82695;BAF82895;BAG57682;CAH18458;CAV28613;EAX06524;EAX06525;NP_001032416;NP_001032417;NP_001032418;NP_001284369;NP_001284370;NP_001284371;NP_002591;Q07343;XP_005270980;XP_005270981;XP_005270982;XP_005270983;XP_006710743 Hs.198072 1648528;1668658;1692964;1703944;1705178;1710066;1710900;1730367;1751855;1752063;1758665;1776974;1796492;1847216;2125453;2134300;2137180;2137379;2153891;2163994;2169269;2170308;2175817;2178402;2180531;2187777;5015959 AL009941;AL009956;AL010057;AL034198;D10S2448;D1S2393;D1S289E;D1S520;G16071;G16076;G16244;G16246;G34878;G34880;G69473;PDE4B_372;RH64524;SGC30670;SGC32588;SHGC-105808;SHGC-106013;SHGC-149105;SHGC-74957;SHGC-80038;SHGC-82313;SHGC-83655;SHGC-84244 DKFZp686F2182;DPDE4;MGC126529;PDE32;PDE4B5 OTTHUMP00000010652;OTTHUMP00000010653;OTTHUMP00000010654;OTTHUMP00000010656;OTTHUMP00000232365;PDEIVB;cAMP-specific 3',5'-cyclic phosphodiesterase 4B;cAMP-specific phosphodiesterase-4 B isoform;dunce-like phosphodiesterase E4;phosphodiesterase 4B cAMP-specific;phosphodiesterase 4B, cAMP-specific (dunce;phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila);phosphodiesterase E4 dunce homolog APPROVED protein-coding ENSG00000184588 HGNC:8781 02528 600127 REVIEWED 737216 PDE4C phosphodiesterase 4C, cAMP-specific The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] 19 19 19 p13.11 18220510 18260722 - 18318771 18359010 - 18207961 18248200 - 1580863;2312479;6480464;6907045;8554872 17376027 10574328;11156964;11207431;12477932;14684825;14702039;15057824;15302935;16344560;19913121;20237496;20628086;21963094;23043089;7843419;8009369;8413254;9349724;9371714;9429761 5143 B7Z6T1;M0R1P5;O43849;O76104;P78505;Q08493;Q32MM7;Q7KYS4;U3KPR3;U3KPR4;V9GYN0;V9GYP2 ABBA01051253;ABBA01051254;AC005759;AC008397;AC068499;AF157816;AI051127;AK295050;AK300888;AK300983;AMYH02035728;AMYH02035729;AY429555;AY429556;AY429557;AY429558;BC109067;BC109068;CH471106;DB313915;L20968;NG_029629;NM_000923;NM_001098818;NM_001098819;NR_040546;U66346;U66347;U66348;U66349;U88712;U88713;Z46632 AAA03591;AAB96875;AAB96876;AAB96877;AAB96878;AAC51915;AAC51916;AAC83047;AAC83048;AAC83049;AAC83050;AAC83051;AAD47053;AAD47054;AAD47055;AAF67386;AAI09068;AAI09069;BAH11959;BAH13367;BAH13388;CAA86601;EAW84675;EAW84676;EAW84677;EAW84678;EAW84679;NP_000914;NP_001092288;NP_001092289;Q08493 Hs.132584 1341514;1645458;1771139;5015961;5024756;5037552;5109281;5118877 D11S3745;D15S1477;D19S212;D1S1425;D8S2279;RH41833;RH80030;SHGC-12528 DPDE1;MGC126222;PDE21 cAMP-specific 3',5'-cyclic phosphodiesterase 4C;dunce;phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila);phosphodiesterase E1 dunce homolog APPROVED protein-coding ENSG00000105650 HGNC:8782 02529 600128 REVIEWED 1315676 PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008] 5 5 5 q31.2-q34 145318881 145405751 - 149237519 149324356 - 149857956 149944793 - 1580863;6480464;6893540;6907045;7240710;8547536;8547535;8699517;8554872 15224133;20212494;23701314 10373499;10393062;12477932;1326553;15001570;1672236;17110911;18723146;19913121;19946729;20110084;20301590;20591486;20628086;20801516;20940301;21039428;2155175;2169289;21697133;22939629;23033484;7493036;7698768;8557689;8889548;9770645 5145 O75316;P16499 AB593141;ABBA01026289;ABBA01026290;ABBA01026291;ABBA01026292;ABBA01026293;ABBA01026294;ABBA01026295;AC008427;AC008545;AF022380;AMYH02012451;AMYH02012452;BC035909;BC144044;BU734142;BX648986;CH471062;M26061;NG_009102;NM_000440;XR_245856;XR_427777 AAB69155;AAC33831;AAH35909;BAJ84077;EAW61756;EAW61757;NP_000431;P16499 Hs.567314 1653215;1675949;1693310;1697830;2115895;2136850;2142731;2217710;5015861;5016596;5037552;7185938;7187396 A003P11;D10S16;D2S2842;D8S2279;G42360;GDB:631802;PDE6A__2855;RH102440;RH93180;SGC31501;SHGC-53109;WI-12020 CGPR-A;PDEA;RP43 GMP-PDE alpha;OTTHUMP00000160522;PDE V-B1;cGMP phosphodiesterase alpha subunit;rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha;rod photoreceptor cGMP phosphodiesterase alpha subunit APPROVED protein-coding ENSG00000132915 HGNC:8785 01570 180071;613810 REVIEWED 736102 PDE4D phosphodiesterase 4D, cAMP-specific This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009] 5 5 5 q12 55205298 56725032 - 58264865 59783925 - 58969038 60488098 - 1581003;1581004;1581005;1581006;1581007;1580863;1300048;2312479;68716;2312656;6480464;6907045;7240710;7327149;2313907;7327147;7327148;8699517;8554872 11296225;14517540;15802632;16675738;16825591;16914755;17376027;17922411;18431594;22487514;22860212;23057870 10022832;10329691;10571082;10828059;10913353;11134006;11156964;11516626;11833004;11839681;12121997;12193273;12387865;12399592;12477932;12552097;12834813;12842049;14500724;14517535;14609333;14668322;15003452;15131123;15182229;15489334;15611099;15731479;15752431;15861005;15938621;16020760;16030021;16130105;16162858;16166573;16177794;16213210;16322495;16344560;16373644;16543535;16642035;16689683;16835261;16964243;16973330;17006457;17016624;17065074;17081983;17088426;17135396;17288540;17353396;17404263;17594329;17620599;17655870;17667963;17673687;17884339;17900862;17903308;17956250;18157711;18158110;18398440;18420948;18514160;18694398;18705898;18711446;18977990;19056482;19196240;19246712;19251251;19252089;19282863;19372219;19399275;19417766;19424605;19426955;19471022;19578796;19608201;19786079;19913121;19948975;20106966;20161734;20182758;20196770;20201926;20357438;20360068;20379614;20503266;20540798;20628086;20634892;20647544;20732872;20734779;20816195;20819076;20837708;20952536;21319273;21611147;21642993;21652625;21677445;21786629;21832049;21876611;21903937;21963094;21989204;22045424;22274584;22464250;22464252;22558309;22610502;22771915;22863883;22882844;22908311;23033274;23043190;23076369;23120769;23135027;23241943;23251661;23266473;23535729;23536305;23648065;23778321;23786009;23799094;23806656;23852788;23863764;24142618;24203977;24657165;2554303;7829101;8009369;8125310;8413254;8663227;8797812;9371713;9371714;9639573 5144 D6R9L4;D6RAQ0;D6RBB2;D6RHE0;D6RIG1;Q08499 ABBA01015793;ABBA01015794;ABBA01015795;ABBA01015796;ABBA01015797;ABBA01015798;ABBA01015799;ABBA01015800;ABBA01015801;AC008791;AC008804;AC008818;AC008829;AC008833;AC008934;AC012315;AC020924;AC026693;AC027322;AC034234;AC091913;AC091955;AC092343;AC109486;AC117527;AF012073;AF012074;AF536975;AF536976;AF536977;AF536980;AJ250852;AJ250854;AJ250855;AK307363;AMYH02011355;AMYH02011356;AMYH02011357;AMYH02011358;AMYH02011359;AMYH02011360;AMYH02011361;AMYH02011362;AMYH02011363;AMYH02011364;AMYH02011365;AMYH02011366;AMYH02011367;AMYH02011368;AY245866;AY245867;AY388960;BC008390;BC036319;BF197530;BI492585;BT007398;BX648604;CH471123;DB230503;KC876980;KC876983;KF510265;KF510911;L20970;NG_027957;NM_001104631;NM_001165899;NM_001197218;NM_001197219;NM_001197220;NM_001197221;NM_001197222;NM_001197223;NM_006203;U02882;U50157;U50158;U50159;U79571;XM_005248537;XM_005248538;XM_005248540;XM_005248541 AAA03592;AAA97890;AAA97891;AAA97892;AAC00069;AAC00070;AAC13745;AAC51928;AAH08390;AAH36319;AAN10117;AAN10118;AAN10119;AAP36062;AAP75760;AAP75761;AAQ90404;ADZ15409;CAC03756;CAC03757;CAC03758;EAW54982;EAW54983;EAW54984;EAW54985;EAW54986;EAW54987;EAW54988;EAW54989;EAW54990;EAW54991;EAW54992;NP_001098101;NP_001159371;NP_001184147;NP_001184148;NP_001184149;NP_001184150;NP_001184151;NP_001184152;NP_006194;Q08499;XP_005248594;XP_005248595;XP_005248597;XP_005248598 Hs.117545 1298298;1335280;1337975;1338218;1338914;1339401;1340026;1340664;1341744;1645773;1650628;1650808;1652080;1661573;1671346;1671550;1698328;1700082;1703578;1704198;1714753;1718267;1718557;1723223;1731439;1732553;1740377;1750983;1751489;1755187;1755417;1756091;1760333;1762617;1772475;1776789;1778275;1785694;1785718;1788622;1846833;1848522;2110867;2123909;2124873;2131644;2133474;2142944;2147769;2150748;2154787;2155642;2157472;2182431;2183945;2218582;5021920;5095036;7184468 BB520687;D4S393;D5S1371;D5S1474;D5S1765;D5S2071;D5S2080;D5S2091;D5S2201E;D5S2376;D5S2500;D5S398;D5S431;D5S468;D5S516E;D5S524;D5S612;D7S1938;G09934;G16934;L28248;L28295;L28370;L28399;L31464;PDE4D;PDE4D_4140;RH102705;RH103654;RH120042;RH122295;RH122480;RH122905;RH17464;RH36173;RH36510;RH48896;RH65738;RH69750;RH78454;SHGC-104922;SHGC-105334;SHGC-12987;SHGC-141822;SHGC-142103;SHGC-142295;SHGC-142883;SHGC-14303;SHGC-146424;SHGC-79022;SHGC-79827;SHGC-79957;SHGC-82787;STS-N30417;UniSTS:50606;WI-16394;WI-16881;ha3092 ACRDYS2;DKFZp686M11213;DPDE3;FLJ97311;HSPDE4D;PDE43;PDE4DN2;STRK1 OTTHUMP00000221595;OTTHUMP00000221675;OTTHUMP00000221680;OTTHUMP00000221681;OTTHUMP00000221682;OTTHUMP00000221683;OTTHUMP00000221684;OTTHUMP00000221685;OTTHUMP00000221686;OTTHUMP00000221687;cAMP-specific 3',5'-cyclic phosphodiesterase 4D;cAMP-specific phosphodiesterase 4D;cAMP-specific phosphodiesterase PDE4D6;dunce-like phosphodiesterase E3;phosphodiesterase 4D, cAMP-specific (dunce;phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila);phosphodiesterase E3 dunce homolog APPROVED protein-coding ENSG00000113448 HGNC:8783 02530 600129;606799;614613 REVIEWED 1352019 PDE4DIP phosphodiesterase 4D interacting protein The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010] 1 1 1 q12 121506245 121526690 + 144851424 145076186 - 148808181 149033019 + 1299425;6480464;8554872 11134006 11374908;12477932;12693553;14702039;15231748;15342556;16344560;16713569;16969126;17043677;17143517;17207965;17923693;18029348;18482256;18685082;19322201;20379614;21139048;21767579;21900206;21988832;22558309;22792062;22864933;23455922;23455924;24457600;24722188;8889549;9455484 9659 E9PJK3;E9PJU0;E9PL24;E9PNE0;E9PQG4;E9PS60;H0YCH7;H0YCY0;H0YEW6;Q5TB27;Q5VU43 AA025132;AA707296;AB007923;AB007946;AB042555;AB042557;ABBA01017835;ABBA01135900;ABBA01148902;ABBA01173452;ABBA01205490;AC239802;AC239804;AC245389;AK000835;AK023588;AK124487;AL080213;AL138791;AL138796;AL590452;AL598372;AL831815;AL832024;AL833273;AW755251;BC004860;BC025406;BC078660;BC132717;BC152439;BC152553;BE536412;BE677898;BG527781;BG776644;BI550399;BP286699;BU075360;BX647660;CB528730;CB529851;CD364321;DA238288;DA400204;DA764537;DA766011;DA816062;DA860918;DB187907;HQ333476;NG_027693;NM_001002810;NM_001002811;NM_001002812;NM_001195260;NM_001195261;NM_001198832;NM_001198834;NM_014644;NM_022359;R42452;XM_005272981;XM_005277442;XM_005277443;XM_005277446;XM_006711642;XM_006711643;XM_006711644;XM_006711645;XM_006711646;XM_006711647;XM_006711648;XM_006711649;XM_006711650;XM_006711651;XM_006711652;XM_006711653;XM_006711654;XM_006711655;XM_006711656 AAH04860;AAH25406;AAH78660;AAI32718;AAI52440;AAI52554;AAI72441;ADO32613;ADQ32278;BAA32299;BAA32322;BAB17759;BAB17761;CAD38529;CAD89923;CAD91152;CAH72521;CAH72522;CAH72523;CAH72524;CAH72525;CAH72526;CAH72527;CAH72528;CAI22526;CAI22527;CAI22822;CAI22823;CAI22824;CAI22825;CAI22826;CAI22827;NP_001002810;NP_001002811;NP_001002812;NP_001182189;NP_001182190;NP_001185761;NP_001185763;NP_055459;NP_071754;Q5VU43;XP_005273038;XP_005277499;XP_005277500;XP_005277503;XP_006711705;XP_006711706;XP_006711707;XP_006711708;XP_006711709;XP_006711710;XP_006711711;XP_006711712;XP_006711713;XP_006711714;XP_006711715;XP_006711716;XP_006711717;XP_006711718;XP_006711719 Hs.584841;Hs.613082;Hs.657490;Hs.731111 1340344;1656972;1659027;1670264;1676870;1677548;1678831;1678947;1679315;1681378;1681480;1683463;1683603;1684409;1685900;1686312;1687940;1690646;1693456;1694792;1713777;1728067;1756373;1766507;1771236;1781670;1781722;1846941;1848571;2108861;2131946;2144937;2163684;2164487;2171864;2177439;2185981;2187018;2191073;5014051;5014055;5021872;5022200;5037552;5093210;5094084;5111713;5117192;5123867;5124053;5124223;5124767;5124956 AFM210wf10;AL009535;AL033606;Bda98b05;Bdy36e05;Cda0tc11;Cda10d12;D16S682;D1S3024;D1S307E;D1S3428;D1S3697;D8S2278;D8S2279;G32585;G34963;G43616;G63304;GDB:313517;GDB:451667;L18426;MARC_13975-13976:1010423707:1;PDE4DIP_8974;RH120775;RH18358;RH25714;RH26146;RH41904;RH45866;RH64503;RH64661;RH64662;RH64667;RH64676;RH67277;RH67357;RH68842;RH78997;RH92535;RH93003;RH98617;SHGC-143344;SHGC-149825;SHGC-154983;SHGC-155255;SHGC-24367;SHGC-31941;SHGC-52621;SHGC-57329;SHGC-59065;SHGC-63508;WI-13414;sY3084 CMYA2;DKFZp781J054;MGC75440;MMGL OTTHUMP00000015720;OTTHUMP00000015721;OTTHUMP00000015722;OTTHUMP00000015723;OTTHUMP00000015724;OTTHUMP00000015725;OTTHUMP00000015726;OTTHUMP00000015727;OTTHUMP00000230044;OTTHUMP00000230074;OTTHUMP00000230075;OTTHUMP00000230076;OTTHUMP00000230091;OTTHUMP00000230125;OTTHUMP00000230506;cardiomyopathy associated 2;cardiomyopathy-associated protein 2;myomegalin;myomegalin/phosphodiesterase 4D interacting protein variant 8;phosphodiesterase 4D-interacting protein APPROVED protein-coding ENSG00000178104 HGNC:15580 10482 608117 REVIEWED 1353241 PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010] 12 12 12 p13 20270954 20279795 + 15125956 15134799 + 14973022 14981865 + 1580863;6480464;6893540;6907045;7240710;8554872;8699517 15224133 12372317;12477932;15215290;15489334;15629837;17207965;17286855;20301591;20379614;2162841;21832049;22901948;8786098;8889548 5149 Q13956 ABBA01067887;AC020613;AMYH02026097;BC069774;BC069800;BC093738;BC093740;BU729922;CH471094;D45399;DQ980604;EL946662;NG_016859;NM_006205 AAH69774;AAH69800;AAH93738;AAH93740;ADQ32887;BAA08241;EAW96343;NP_006196;Q13956 Hs.54471 2217716 PDE6H_3028 ACHM6;RCD3 GMP-PDE gamma;OTTHUMP00000239347;retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma APPROVED protein-coding ENSG00000139053 HGNC:8790 03116 601190;610024 REVIEWED 1314689 PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014] 2 2 2 q35-q36 226373664 226422490 - 232597147 232645974 - 231732437 231781264 - 1580863;6480464;6907045;8699517;7240710;8554872 10373499;10518933;11786539;11980706;12477932;15489334;16169070;16189514;16473576;16527812;18391951;21139048;21145461;22179043;23150559;23301619;23559067;23568457;24166846;24401286;24816145;8798640;9533031;9570951;9712853;9781033;9990021 5147 B8ZZK5;C9IZ52;O43924;Q6IB24 ABBA01002039;ABBA01002040;ABBA01002041;ABBA01002042;AC073476;AF022912;AF042835;AF045999;AK311623;AMYH02005975;AMYH02005976;BC001054;BC007831;BC017467;BI754373;BT007278;CH471063;CR456980;HY037751;NG_034064;NM_001291018;NM_002601;NR_110994 AAB87872;AAC25953;AAC39720;AAH07831;AAP35942;AAY24151;ABM84149;ABM87552;CAG33261;EAW70977;EAW70978;NP_001277947;NP_002592;O43924 Hs.516808 2217712 PDE6D_3234 JBTS22;PDED GMP-PDE delta;OTTHUMP00000204402;OTTHUMP00000204404;protein p17;retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta protein-coding ENSG00000156973 HGNC:8788 04056 602676;615665 REVIEWED 732248 PDE7B phosphodiesterase 7B The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009] 6 6 6 q23-q24 136913199 137257146 + 136172834 136516709 + 135851696 136195571 + 1580863;1300048;2312479;6480464;6907045;8554872 17376027 10618442;10814504;10872825;12477932;15489334;19033455;19322201;19850283;19913121;20201926;20558539;20628086;20798984;21120911;21362230;21383644;21796143;23453122;23535033;23602568;24002674 27115 A1E5M1;H0Y689;Q9NP56 AB038040;AB209990;ABBA01025832;ABBA01025833;ABBA01025834;ABBA01025835;AF086025;AJ251860;AK290582;AL133319;AL138828;AL360178;AL512290;AMYH02014552;AMYH02014553;AX058278;BC070267;BC075082;BC075083;CH471051;EF108327;HI505003;JC002821;JC052618;NG_011994;NM_018945;XM_005266931 AAH70267;AAH75082;AAH75083;ABL14249;ABZ92522;BAA96537;BAE06072;BAF83271;CAB92441;CAC22485;CBX54288;CDL93465;CDL96993;EAW47956;EAW47957;NP_061818;Q9NP56;XP_005266988 Hs.744230 1334735;1339154;1696762;1699892;1704940;1719387;1753231;1762983;1772837;1786040;5037552;7185316 D6S1626;D6S292;D8S2279;RH103554;RH123421;SHGC-110018;SHGC-146730;SHGC-155469;SHGC-77945;SHGC-79951;WI-16404 MGC88256;bA472E5.1 OTTHUMP00000017267;cAMP-specific 3',5'-cyclic phosphodiesterase 7B;high-affinity cAMP-specific 3',5'-cyclic phosphodiesterase;rolipram-insensitive phosphodiesterase type 7 APPROVED protein-coding ENSG00000171408 HGNC:8792 06870 604645 REVIEWED 735391 PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] 17 17 17 q25 76262515 76268615 - 79617489 79623607 - 81650459 81657059 - 1580863;1300048;6480464;6893540;6907045;7240710;8547536;8547535;8699517;8554872 15224133;20212494;23701314 11076863;11230166;11502744;12107411;12477932;12624098;14502124;15215290;15489334;15489336;16357825;16381901;1683837;1965799;19798052;20301590;20397626;20655036;20979602;2161380;7828894;8125719;8406511;8557689 5148 I3L446;P18545 ABBA01032158;AC139530;AMYH02034134;BC106884;BQ638010;BQ639132;BQ639341;BX537414;BX647779;CH471099;EL954528;M36476;NG_009834;NM_002602;NR_026872;U00480;U00482;X62025;XM_006721942 AAA03653;AAA60044;AAI06885;CAA43975;CAD97656;CAL37980;CAL38593;EAW89666;NP_002593;P18545;XP_006722005 Hs.654482 1722433;1779054;2217714 G60291;PDE6G_3210;STS-X62025 DKFZp686C0587;MGC125749;PDEG;RP57 GMP-PDE gamma;retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma;rod cG-PDE G APPROVED protein-coding ENSG00000185527 HGNC:8789 08914 180073;613582 REVIEWED 1320406 PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] 10 10 10 q24 89113470 89166556 + 95372345 95425430 + 93612588 93665673 + 1580863;6480464;6893540;6907045;7240710;8554872;8699517 15224133 10393054;11076863;11329013;11394879;12477932;15164054;19615668;19801642;19887631;19913121;20301591;20351714;20379614;20628086;21127010;21267001;23033484;23362848;24839885;7490077;8543163;8641425 5146 P51160 ABBA01021866;AL157396;AL356214;AMYH02023559;AMYH02023560;BG206143;BG220856;CH471066;NG_016752;NM_006204;U20196;U20197;U20198;U20199;U20200;U20201;U20202;U20203;U20204;U20205;U20206;U20207;U20208;U20209;U20210;U20211;U20212;U31973;X94354 AAA92886;AAA96392;AAI11378;CAA64079;EAW50063;EAW50064;NP_006195;P51160 Hs.658121 2178652;2179112;5491985 PDE6C-1;RH79144;SHGC-31657 ACHM5;COD4;PDEA2 OTTHUMP00000020119;cGMP phosphodiesterase 6C;cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' APPROVED protein-coding ENSG00000095464 HGNC:8787 02898 600827;613093 REVIEWED 1322283 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 4 4 4 p16.3 559794 605337 + 619363 664681 + 625574 670892 + 1580863;6480464;6893540;6907045;7240710;8547536;8547535;8554872;8699517;8657412;8657407 15224133;17267005;20212494;23701314;9543643 10373499;11943774;12477932;12760810;12778443;1313787;1315306;1322354;1326553;1338685;15489334;1720239;17249578;17683050;18188951;18854872;19218616;19946729;20301590;20591486;20801516;20940301;21655355;21792086;23033484;23049240;23882135;4369896;6493;7724547;7951329;8075643;8394174;8394243;8557257;8557689;8595886;8640555;8698075;8768262;8956055 5158 B4DHV7;C9J628;C9J7V6;H7C4F7;H7C4P9;P35913 ABBA01019336;ABBA01019337;AC107464;AI131517;AK295285;AK308789;AK309252;AK316054;AMYH02008558;BC000249;BC039412;BT009794;BX487988;CH471131;FJ417399;NG_009839;NM_000283;NM_001145291;NM_001145292;S41458;X62692;X66142;X90587;XM_005272279;XM_005272280 AAB22690;AAH00249;AAP88796;ABM86693;ABW03811;BAG58269;BAH14425;CAA44569;CAA46932;CAA62215;EAW82661;EAW82662;NP_000274;NP_001138763;NP_001138764;P35913;XP_005272336;XP_005272337 Hs.623810;Hs.654544 1673616;1680627;1683623;1742151;1742153;1742155;1797978;2136235;2154589;2157146;5015861;7185938 D10S16;GDB:192417;GDB:192426;GDB:192428;PDE6B_1997;RH80904;RH99115;SHGC-59575;SHGC-59751;SHGC-67900;WI-19161 CSNB3;CSNBAD2;PDEB;RP40;rd1 GMP-PDE beta;OTTHUMP00000216947;OTTHUMP00000216948;OTTHUMP00000216949;rod cGMP-phosphodiesterase beta-subunit;rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta APPROVED protein-coding ENSG00000133256 HGNC:8786 01571 163500;180072;613801 REVIEWED 1348334 PDE8B phosphodiesterase 8B The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010] 5 5 5 q13.3 72400947 72618614 + 76476082 76724081 + 77180257 77428256 + 1580863;2312479;6480464;6907045;7240710;8699517;8554872 17376027 10737800;11502813;12372422;12477932;12681444;12895443;14702039;15144186;15210883;15489334;18431404;18514160;19429701;19820008;20085714;20373981;20379614;21317282;21502949;21963094;22084153;22335482;22493691;22494929;22781450;23237535;23272636;23408906;9784418 8622 B3KN77;D6R9W0;D6RH10;D6RJD7;O95263 AB085824;AB085825;AB085826;AB085827;ABBA01061980;ABBA01061981;AC008581;AC010234;AC022414;AC022422;AF079529;AK002074;AK023913;AL831924;AMYH02011614;AMYH02011615;AMYH02011616;AMYH02011617;AY129948;AY129949;AY129950;AY423729;BC035144;BC043209;BC047627;BE169437;BF109581;BI005015;BI677296;BU071384;CH471084;KC877015;KC877029;KF457930;KF457931;NG_023364;NM_001029851;NM_001029852;NM_001029853;NM_001029854;NM_003719;XM_005248621;XM_005248623;XM_005248624;XM_006714725;XM_006714726;XM_006714727 AAC69564;AAH35144;AAH47627;AAI56216;AAI56988;AAN71723;AAN71724;AAN71725;AAN71726;AAN71727;AAS00492;BAC53762;BAC53763;BAC53764;BAC53765;BAG51011;BAG51239;CAD38584;EAW95798;EAW95799;EAW95800;EAW95801;EAW95802;EAW95803;EAW95804;NP_001025022;NP_001025023;NP_001025024;NP_001025025;NP_003710;O95263;XP_005248678;XP_005248680;XP_005248681;XP_006714788;XP_006714789;XP_006714790 Hs.584830 1335998;1339509;1650398;1659804;1668866;1687229;1716675;1758195;1759985;1760059;1774150;2140109;2144152;2155264;2184546;2217718;5491701 D5S1962;D5S2041;D5S2464;D5S2596;L28264;MARC_8167-8168:996688348:1;PDE8B_3075;RH121596;RH45834;RH47147;RH91844;SGC38064;SHGC-107547;SHGC-111880;SHGC-147635;WI-15505;WI-15757 ADSD;FLJ11212;PPNAD3 3',5' cyclic nucleotide phosphodiesterase 8B;OTTHUMP00000128363;OTTHUMP00000222106;OTTHUMP00000222107;OTTHUMP00000222108;OTTHUMP00000222109;cell proliferation-inducing gene 22 protein;high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B;hsPDE8B APPROVED protein-coding ENSG00000113231 HGNC:8794 04546 603390;609161;614190 REVIEWED 68570 PDE7A phosphodiesterase 7A The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011] 8 8 8 q13 62621394 62745383 - 66626569 66753969 - 65714334 65841734 - 1580863;2312479;6480464;6907045 17376027 10393044;10913353;11156964;11371644;11812656;12067300;12388353;12477932;12737631;14702039;15146197;15994308;16341674;16344560;18420479;19913121;20379614;20628086;23661015;24250222;8009369;8389765;8943082;9195912;9521885 5150 E5RG23;Q13946 ABBA01041864;ABBA01041865;ABBA01041866;ABBA01041867;AC055822;AC100812;AF332652;AI632383;AJ457788;AK057586;AK290801;AK292680;AMYH02018097;AMYH02018098;AMYH02018099;AMYH02018100;AMYH02018101;AW387924;AY266364;BC058025;BC126360;BM818331;CH471068;CN414361;DB146108;DB460103;DR000686;FB775500;HG501292;HI504999;HI505001;JC002817;JC052614;N49050;NG_029614;NM_001242318;NM_002603;U67932 AAB65772;AAI26361;AAK57640;AAP31236;ADR83172;BAF83490;BAF85369;CAD29836;CAV30707;CBX54286;CBX54287;CDL93463;CDL96991;EAW86883;EAW86884;EAW86885;EAW86886;NP_001229247;NP_002594;Q13946 Hs.527119 1664273;1675579;1678639;1679533;1686422;1763739;1767614;1854520;1856440;2137357;2175657;5016596 D8S2079;GDB:631802;RH12246;RH65768;RH68578;RH75847;RH79995;RH91483;RH99308;SHGC-147415;STS-H62543;WI-11860 HCP1;PDE7;RP11-707M3.3;TM22 OTTHUMP00000226777;OTTHUMP00000226778;high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A;phosphodiesterase isozyme 7 APPROVED protein-coding HGNC:8791 01386 171885 REVIEWED 1605961 PDF peptide deformylase (mitochondrial) Protein synthesis proceeds after formylation of methionine by methionyl-tRNA formyl transferase (FMT) and transfer of the charged initiator f-met tRNA to the ribosome. In eubacteria and eukaryotic organelles the product of this gene, peptide deformylase (PDF), removes the formyl group from the initiating methionine of nascent peptides. In eubacteria, deformylation of nascent peptides is required for subsequent cleavage of initiating methionines by methionine aminopeptidase. The discovery that a natural inhibitor of PDF, actinonin, acts as an antimicrobial agent in some bacteria has spurred intensive research into the design of bacterial-specific PDF inhibitors. In human cells, only mitochondrial proteins have N-formylation of initiating methionines. Protein inhibitors of PDF or siRNAs of PDF block the growth of cancer cell lines but have no effect on normal cell growth. In humans, PDF function may therefore be restricted to rapidly growing cells. [provided by RefSeq, Nov 2008] 16 16 16 q22.1 53877064 53879038 - 69362524 69364498 - 69328621 69330595 - 6480464 11060042;12417987;12477932;12924944;14532271;14637138;15489334;15489958;19064571;19236878;21805148;22554513;23815882 64146 Q9HBH1 ABBA01025526;AC026464;AF239156;AF322879;AMYH02032276;BC019912;CH471092;NG_009013;NG_033043;NM_022341 AAG33968;AAH19912;AAK15624;EAW83265;EAW83268;NP_071736;Q9HBH1 Hs.130849 1662087;1689793 RH48796;SHGC-34961 OTTHUMP00000205444;OTTHUMP00000245836;peptide deformylase, mitochondrial;peptide deformylase-like protein;polypeptide deformylase APPROVED protein-coding ENSG00000258429 HGNC:30012 17829 REVIEWED 1601777 PDE8A phosphodiesterase 8A The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] 15 15 15 q25.3 61951944 62111125 + 85523744 85682376 + 84980513 85139145 + 2312479;6480464;6907045;8554872 17376027 11156964;11371644;11738832;12045112;12477932;12681444;14702039;15489334;15596729;18029348;18976975;18983167;19056867;19482904;19913121;20628086;20719862;21906983;21920574;22673573;23509299;23568457;24250222;9618252 5151 E9PIJ0;H0YKR1;H0YNP3;O60658 ABBA01052951;ABBA01052952;ABBA01052953;AC027078;AC087468;AF056490;AF332653;AF388183;AF388184;AF388185;AF388186;AF388187;AF388188;AI767983;AK074280;AK122689;AK127232;AL109687;AL109778;AL109789;AMYH02030960;AMYH02030961;AMYH02030962;BC013825;BC017164;BC036190;BC037260;BC048317;BC060762;BC075822;CH471101;NG_029630;NM_001243137;NM_002605;NM_173454;XM_005254933;XM_006720567;XM_006720568;XR_429456 AAC39763;AAH48317;AAH60762;AAH75822;AAK57641;AAL18610;AAL18611;AAL18612;AAL18613;AAL18614;BAG53669;BAG54458;CAB52020;CAB52432;CAB52453;EAX01965;EAX01966;EAX01967;EAX01968;EAX01969;EAX01970;NP_001230066;NP_002596;NP_775656;O60658;XP_005254990;XP_006720630;XP_006720631 Hs.9333 1672961;1684270;1767236;1778310;2108863;2127992;2151429;2154235;2154237;2160860;2164277;2177482;2179139;2183121;2187662;7186793 A001T02;A008L24;D15S135E;G19611;PDE8A_7736;RH44511;RH66263;RH98243;SGC31715;SHGC-35120;STS-AA039638;STS-R05505;STS-R97428;T02909;WI-19329 FLJ16150;HsT19550 OTTHUMP00000192898;OTTHUMP00000192899;cAMP-specific cyclic nucleotide phosphodiesterase 8A;high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A;high-affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A APPROVED protein-coding ENSG00000073417 HGNC:8793 09114 602972 REVIEWED 737124 PDGFB platelet-derived growth factor beta polypeptide The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer (PDGF-BB) or as a heterodimer with the platelet-derived growth factor alpha polypeptide (PDGF-AB), where the dimers are connected by disulfide bonds. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans resulting from unregulated expression of growth factor. Two alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2013] 22 22 22 q13.1 23421845 23443115 - 39619685 39640957 - 39223680 39244952 - 1580847;1580850;1580863;2292179;2292153;2292173;2292200;2292211;2311066;2311646;2298579;2311648;2311650;1581759;2292203;2292195;6480464;6482691;6482306;6482787;6482653;6482858;6483042;6482660;6482796;6482830;6482831;6483007;6482859;6483060;6482756;6483071;6484113;6482673;6907045;7240710;8699517;8554872 11005132;11780721;11994382;12533868;12606528;12641779;12819032;14685146;15067514;16294022;16596190;1708827;17195235;17519529;17674348;21211989;21216974;21255638;21367419;21368226;21568693;21750433;21819559;21868503;22407906;22523431;22539040;8094359;8447423;8504434;8644858 10409733;10446987;10485711;10591208;10644978;10681572;10734101;10806482;11264163;11331882;11498506;11788434;11811779;11854294;11903042;12023768;12034531;12070119;12127408;12176024;12411321;12477932;12576295;12615918;12660034;12850807;12850832;12960151;1311092;1317862;1396586;14595114;14643521;14702039;14705808;14760763;14997209;15081117;15461802;15489334;15496150;15522237;15695519;15826941;15897913;15915457;15919668;15956925;16007151;16014047;16081426;16149045;16227675;16477226;16530387;1661670;16641085;16709185;16777970;16843106;16847823;16893901;17074267;17157157;17227125;17229887;17292826;17324121;17338425;17341683;17395886;17431412;17518657;17545544;17608589;17626901;17671690;17724602;17942966;17944929;17950782;17958740;17981115;17991872;17998143;18069662;18075302;18239136;18300076;18310286;18325189;18326546;18420995;18456732;18471357;18478301;18570917;18573259;18700164;18758297;18772331;18819098;18973553;19019919;19060904;1906887;19091791;19219070;19447872;19451595;19498003;19576918;19584075;19628565;19635106;19696027;19728062;19890351;19913121;19956642;20019669;20036421;20042679;20061935;20083221;20224347;20233927;20301334;20406730;20452482;20485444;20624165;20628086;20628624;20673868;20681813;20694560;20717068;20739660;20822908;20950212;21102276;21111450;21118571;21124835;21129745;21171016;21175804;21321954;21429937;21483469;21618276;21754979;21764712;21766497;21769672;21919032;21921666;21956466;22021110;22038837;22104124;2212004;22133064;22174424;22200892;22279551;22619279;22688015;22689130;22711911;22805337;22908324;22922228;23042547;23199263;23207290;23302418;23537647;23633549;23784143;23906294;23913003;23934686;24084832;24114199;24331325;2439522;24454980;24463275;24792185;2536956;2538439;2544881;2836953;2845420;287022;291037;2991848;3023958;3275870;3456904;3472769;3517869;3969118;4033772;6091919;6297002;6306471;6318322;6327048;6329745;6336312;6740330;6844921;7073684;7659502;7829517;7896901;8174076;8647855;8697155;8780057;8889548;8900172;8988177;9057949;9334164;9409235;9685360;9692901;9739761 5155 A9UJN9;A9UJP0;P01127 A37537;A37562;ABBA01055556;ABBA01055557;AK022920;AMYH02038376;BC029822;BC077725;BM983641;CH471095;CQ858326;CR456538;CR541807;CS172383;CS172827;CS367418;HC040703;K01401;K01913;K01914;K01915;K01916;K01917;M12783;M19719;M32009;NG_012111;NM_002608;NM_033016;X00560;X00561;X00562;X02744;X02811;X03702;X83705;X98706;Z81010 AAA60349;AAA60552;AAA60553;AAA98793;AAH29822;AAH77725;CAA02289;CAA02294;CAA25227;CAA25228;CAA25229;CAA25230;CAA26524;CAA26579;CAA27333;CAA58679;CAA67262;CAG30424;CAG46606;CAH23424;CAJ32895;CAJ32907;CAK54569;CAK54868;CAL32766;CBH30542;EAW60305;EAW60306;EAW60307;EAW60308;NP_002599;NP_148937;P01127 Hs.1976 1742087;1744389;1775966;1796494 D22S1108;GDB:190930;GDB:452638;PDGFB_1020 FLJ12858;IBGC5;PDGF-2;PDGF2;SIS;SSV;c-sis OTTHUMP00000198980;OTTHUMP00000198981;OTTHUMP00000198982;OTTHUMP00000198983;PDGF subunit B;PDGF, B chain;Platelet-derived growth factor, beta polypeptide (oncogene SIS);becaplermin;platelet-derived growth factor 2;platelet-derived growth factor B chain;platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog);platelet-derived growth factor subunit B;platelet-derived growth factor, B chain;proto-oncogene c-Sis APPROVED protein-coding ENSG00000100311 HGNC:8800 01815 190040;607174;607907;615483 REVIEWED 733534 PDE9A phosphodiesterase 9A The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 29223477 29345213 + 44073862 44195619 + 42653752 42775509 + 1580863;6480464;6907045;8554872 10830953;12477932;12565835;14527714;14702039;15210993;15489334;16189514;16780588;17008408;17090334;19060904;19214142;20351714;20379614;21336703;21736695;22328573;22424883;22960860;23333304;8557689;9624146;9856478 5152 O76083 AB017602;ABBA01004532;ABBA01004533;ABBA01004534;ABBA01004535;AF048837;AF067223;AF067224;AF067225;AF067226;AI492065;AK001165;AK001307;AK074662;AK127770;AK294112;AK308753;AK314679;AMYH02037876;AMYH02037877;AMYH02037878;AMYH02037879;AP001626;AP001627;AP001628;AP001747;AY196299;AY196300;AY196301;AY196302;AY196303;AY196304;AY196305;AY196306;AY196307;AY196308;AY196309;AY196310;AY196311;AY196312;AY196313;AY196314;AY242121;AY701187;BC009047;BT007016;CH471079;NM_001001567;NM_001001568;NM_001001569;NM_001001570;NM_001001571;NM_001001572;NM_001001573;NM_001001574;NM_001001575;NM_001001576;NM_001001577;NM_001001578;NM_001001579;NM_001001580;NM_001001581;NM_001001582;NM_001001583;NM_001001584;NM_001001585;NM_002606;XM_005261132 AAC26723;AAC26724;AAC26725;AAC26726;AAC39778;AAH09047;AAO34685;AAO34686;AAO34687;AAO34688;AAO34689;AAO34690;AAO34691;AAO34692;AAO34693;AAO34694;AAO34695;AAO34696;AAO34697;AAO34698;AAO34699;AAO34700;AAO88210;AAP35662;AAV84271;ACT64465;ACT64466;BAA88847;BAA95552;BAC11120;BAG37232;BAG57446;EAX09531;EAX09532;EAX09533;EAX09534;EAX09535;EAX09536;EAX09537;EAX09538;EAX09539;EAX09540;EAX09541;EAX09542;EAX09543;EAX09544;EAX09545;EAX09546;EAX09547;EAX09548;EAX09549;NP_001001567;NP_001001568;NP_001001569;NP_001001570;NP_001001571;NP_001001572;NP_001001573;NP_001001574;NP_001001575;NP_001001576;NP_001001577;NP_001001578;NP_001001579;NP_001001580;NP_001001581;NP_001001582;NP_001001583;NP_001001584;NP_001001585;NP_002597;O76083;XP_005261189 Hs.473927 1342054;1655921;1730890;1751997;1775058;1790601;2147635;2175780;2180669 D21S113;D21S1411;D21S1974;IB381;RH78209;SHGC-105989;SHGC-57530;SHGC-87675;STS_CEB239 FLJ90181;HSPDE9A2 CGMP-specific 3',5'-cyclic phosphodiesterase type 9;OTTHUMP00000109388;OTTHUMP00000109389;OTTHUMP00000109390;OTTHUMP00000109391;OTTHUMP00000109392;OTTHUMP00000109393;OTTHUMP00000109394;OTTHUMP00000109395;OTTHUMP00000109396;OTTHUMP00000109397;OTTHUMP00000109398;OTTHUMP00000109399;OTTHUMP00000109400;high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A;phosphodiesterase PDE9A21 APPROVED protein-coding ENSG00000160191 HGNC:8795 09115 602973 REVIEWED 1604286 PDGFD platelet derived growth factor D The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q22.3 100938918 101198288 - 103777914 104035027 - 103907186 104164299 - 6480464;6484113;6907045;8554872 11162582;11331881;11331882;11342471;11980634;12107412;12427128;12477932;12975309;14514732;15207811;15271796;15489334;15611105;15988036;16189269;18056465;18187181;18258854;18403754;18471357;18573494;18600092;18997817;19028801;19357108;19544444;19733850;19913121;20379614;20406896;20628086;21098708;21347282;21378988;21507922;21890473;22289441;22415093;22471482;22689130;22704460;23187740;23505219;24158561 80310 H0YD37;Q9GZP0 AB033832;ABBA01039920;ABBA01039921;ABBA01039922;AF113216;AF335584;AF336376;AI962915;AK292801;AMYH02025498;AMYH02025499;AMYH02025500;AMYH02025501;AMYH02025502;AP003043;AP003502;AP004551;AY027517;AY027518;AY359116;BC030645;BG722948;CH471065;CQ858309;GM867543;HC437559;NM_025208;NM_033135 AAG39287;AAH30645;AAK20081;AAK20082;AAK38840;AAK56136;AAQ89474;ADZ15749;BAB18903;BAF85490;CAH23468;CAT16765;CBJ57251;EAW67045;EAW67046;NP_079484;NP_149126;Q9GZP0 Hs.352298 1677502;1680509;1736808;1737117;1757857;2111832;2180768 D11S2909;D11S4506;D11S4670;D15S794;RH92113;RH99280;SHGC-146711 IEGF;MGC26867;MSTP036;PDGF-D;SCDGF-B;SCDGFB OTTHUMP00000231596;OTTHUMP00000231641;iris-expressed growth factor;platelet-derived growth factor D;spinal cord derived growth factor B;spinal cord-derived growth factor B;spinal cord-derived growth factor-B APPROVED protein-coding ENSG00000170962 HGNC:30620 17830 609673 REVIEWED 68605 PDGFC platelet derived growth factor C The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] 4 4 4 q32 155025774 155235563 - 157682763 157892546 - 156761611 156971394 - 6480464;6484113;6907045;8554872 10806482;10858496;11004490;11297552;11313995;11342471;12032822;12176024;12477932;12598536;12707385;12975309;15061151;15207811;15389578;15728360;15911618;16443219;17482170;18573494;18588873;19092777;19111878;19199708;19553600;19569180;19786962;19913121;19968886;20452482;20485444;20628086;20634891;20673868;20819778;21118967;21993555;22035541;22581228;23029525;23077641;23182716;23714575;23784143;23824909;23929039;24126726;24269585;24421315 56034 B4E3A5;H0Y9N2;J3KN71;Q9NRA1 AB033831;ABBA01070187;ABBA01070188;AC092608;AC093325;AF091434;AF244813;AF260738;AI446155;AK300480;AK304638;AK313817;AM922296;AMYH02010352;AMYH02010353;AMYH02010354;AY358493;BC041783;BC051876;BC094746;BC136662;BC144348;CH471056;CQ858328;CS019501;CS070836;CS367440;CS430816;GM867508;KF457822;NM_016205;NR_036641;XM_006714273 AAF00049;AAF80597;AAI36663;AAK51637;AAQ88857;AAY40906;BAB03266;BAG36553;BAG62196;BAG65417;CAH23469;CAI58839;CAI93202;CAL33851;CAL60145;CAP58278;CAT16763;EAX04874;EAX04875;NP_057289;Q9NRA1;XP_006714336 Hs.570855 1334788;1648576;1659000;1687213;1701308;1728709;1773538;2164778 AFM290vc5;D4S1589;D4S949;G63726;RH104283;SHGC-50156;SHGC-59762;SHGC-68226 PDGF-C;SCDGF;VEGF-E FALLOTEIN;OTTHUMP00000220751;OTTHUMP00000220752;OTTHUMP00000228241;platelet-derived growth factor C;secretory growth factor-like protein;spinal cord-derived growth factor APPROVED protein-coding HGNC:8801 10529 608452 REVIEWED 1317560 PDGFRL platelet-derived growth factor receptor-like This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008] 8 8 8 p22-p21.3 16399596 16466302 + 17433942 17500642 + 17576433 17643133 + 1580863;6480464;7240710;8699517;8554872 12477932;15226608;15489334;16270321;16552773;18366601;18442402;20237496;20333786;22926996;24324551;24529757;7519877;7898930 5157 Q15198 AB020863;ABBA01021581;ABBA01021582;ABBA01021583;AC124069;AK289450;AMYH02017535;AMYH02017536;AMYH02017537;AP006248;BC010927;BQ446405;CH471080;CR541952;CS208027;D37965;HB867212;NG_023332;NM_006207 AAH10927;ABM83870;ABM87191;BAA07179;BAF82139;CAG46750;CAJ44939;CBF57592;EAW63811;NP_006198;Q15198 Hs.458573 1712106;1853353 G54102;SHGC-35410 PDGRL;PRLTS OTTHUMP00000161390;PDGF receptor beta-like tumor suppressor;PDGFR-like protein;platelet-derived growth factor receptor-like protein;platelet-derived growth factor-beta-like tumor suppressor APPROVED protein-coding ENSG00000104213 HGNC:8805 05206 114500;114550;604584 REVIEWED 7175945 PDHA1P1 pyruvate dehydrogenase (lipoamide) alpha 1 pseudogene 1 3 3 3 p14.3 57799695 57801090 - 57785781 57787176 - 57800054 57801449 - 100132534 ABBA01024403;AC099777;AMYH02006876;NG_007303 pseudo HGNC:44636 INFERRED 1351234 PDHA2 pyruvate dehydrogenase (lipoamide) alpha 2 ENCODES a protein that exhibits pyruvate dehydrogenase (acetyl-transferring) activity; INVOLVED IN pyruvate metabolic process; PARTICIPATES IN butanoate metabolic pathway; citric acid cycle pathway; gluconeogenesis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH bis(2-chloroethyl) sulfide; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 q22-q23 94057862 94059248 + 96761239 96762625 + 95840088 95841474 + 1580863;2307427;6480464;6907045;8554872 11795479 10542321;11181995;11577086;11673873;12477932;15489334;1581363;16436377;17081983;20005141;20877624;21145461;2122529;2249846;22675509;22750801;22939629;7864652 5161 P29803 ABBA01063634;AC093828;AK313872;AMYH02009765;BC030697;BC066953;BC094760;BC119656;BC119657;BC127637;BC127638;CH471057;HC007208;HC044521;M86808;NM_005390;U23825 AAA60232;AAF14652;AAH30697;AAH66953;AAH94760;AAI19657;AAI19658;AAI27638;AAI27639;BAG36600;CBH19409;CBH30590;EAX06063;NP_005381;P29803 Hs.131361 1789689;2148343;2217720 PDHA2_3406;RW2;STS-M86808 MGC149517;MGC149518;PDHAL OTTHUMP00000161620;PDHE1-A type II;pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial;pyruvate dehydrogenase, E1-alpha polypeptide, testis specific protein-coding ENSG00000163114 HGNC:8807 01531 179061 VALIDATED 1343920 PDHB pyruvate dehydrogenase (lipoamide) beta The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012] 3 3 3 p21.1-p14.2 58427174 58433398 - 58413357 58419579 - 58427630 58433852 - 1599115;1580863;2307427;6480464;6907045;7240710;8699517;8554872 11795479;15138885 11076863;11230166;11577086;12477932;12651851;12676647;14638692;15489334;15489336;15967462;16159877;16344560;16381901;1702713;17923481;18164639;18206651;18468620;19081061;19287380;1967901;19738201;19924563;20877624;21139048;21145461;21890473;21900206;21987572;21988832;22268729;22863883;22939629;2295468;22990118;23125841;2323578;2376596;2377599;23798571;24250222;24457600;24583282;25027693;2829898;3422424;7273846;7864652;7895732;8125298;8889548;9824306 5162 C9J634;F8WF02;P11177 AB209241;ABBA01024384;AC135507;AK225569;AK225621;AK293153;AK311514;AK313022;AL117618;AL706543;AMYH02006888;BC000439;BC001924;BC004115;BM971427;CH471055;CR541911;D90086;DA965753;DB039833;J03576;M19123;M34055;M34056;M34479;M54788;NG_016860;NM_000925;NM_001173468;NR_033384;X57778 AAA36428;AAA60052;AAA60053;AAA60054;AAA60233;AAA88097;AAH00439;AAH01924;ABM82292;ABM85472;BAA14123;BAD92478;BAG35857;BAG56698;CAA40924;CAB56017;CAG46709;CAL37877;CAL38156;EAW65371;EAW65372;EAW65373;NP_000916;NP_001166939;P11177 Hs.161357 1646597;1695014;1741455;1857437;5014023;5020635;5022578;5109281;5121841 D13S1553;D1S1423;D1S1425;D1S3203;D7S3207;G44720;GDB:181220;L30092;STS-J03576 DKFZp564K0164;PDHBD;PDHE1-B;PHE1B OTTHUMP00000214202;OTTHUMP00000214203;OTTHUMP00000214204;OTTHUMP00000214205;OTTHUMP00000214206;pyruvate dehydrogenase E1 component subunit beta, mitochondrial;pyruvate dehydrogenase, E1 beta polypeptide APPROVED protein-coding ENSG00000168291 HGNC:8808 01530 179060;614111 REVIEWED 736556 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] X X X p22.1 23483337 23501163 + 19362011 19379825 + 19343893 19361707 + 731230;1580863;1300048;2307427;6480464;6907045;7240710;8554872;8699517 10679936;11795479 10077682;11485553;11486000;12477932;12651851;12676647;1293379;1301207;1338114;14638692;14708897;15302935;15489334;1551669;15861126;16169070;16196087;16344560;16713755;16967364;17065338;17081983;17353931;17947500;17957032;18023225;18398624;1907799;19081061;1909401;19517265;19586787;19615732;20002461;20562859;20958858;21139048;21145461;21470495;21723463;21809123;21852536;21890473;21895644;21914562;21963094;22142326;2227443;22586326;22623428;22750801;22863883;22939629;2377599;23798571;23842279;24816145;25027693;2537010;2737678;2745444;2748588;2828359;3034892;3422424;7273846;7545958;7573035;7757088;7782287;7853374;7864652;7887409;7967473;8032855;8125298;8199595;8498846;8504306;8664900;8844217;9003499;9029794;9671272;9686362;9799265 5160 P08559;Q5JPT9;Q5JPU0;Q5JPU1;Q5JPU2;Q5JPU3 ABBA01071752;AF085457;AF125053;AF125054;AF125055;AF125056;AF125057;AF125058;AF125059;AF125060;AF125061;AF125062;AF125063;AF125064;AF125065;AF125066;AF125067;AF125068;AF125069;AF125070;AF125071;AF125072;AF125073;AF125074;AF125075;AF125076;AF125078;AF125079;AF125080;AF125081;AF125082;AF125083;AF125084;AF125085;AF125086;AF125087;AF125088;AK129887;AK222740;AK222988;AK293250;AK296341;AK296457;AK312263;AL732326;AMYH02038963;AW204705;BC002406;BU170389;CH471074;D90084;DA075402;DC361191;EF576990;EF590116;EF590117;J03503;J03575;L13318;L48690;M21447;M24848;M27257;NG_016781;NM_000284;NM_001173454;NM_001173455;NM_001173456;R49470;U75933;U75934;U75935;U75936;U75937;U75938;U75939;U75940;X52709;X52710;XM_006724495 AAA31853;AAA36533;AAA60050;AAA60051;AAA60055;AAA60227;AAB39723;AAB39724;AAB39725;AAB39726;AAB39727;AAB39728;AAB39729;AAB39730;AAB59581;AAD16047;AAD23841;AAD23842;AAD23843;AAD23844;AAD23845;AAD23846;AAD23847;AAD23848;AAD23849;AAD23850;AAD23851;AAD23852;AAD23853;AAD23854;AAD23855;AAD23856;AAD23857;AAD23858;AAD23859;AAD23860;AAD23861;AAD23862;AAD23863;AAD23864;AAD23866;AAD23867;AAD23868;AAD23869;AAD23870;AAD23871;AAD23872;AAD23873;AAD23874;AAD23875;AAD23876;AAH02406;ABM82791;ABM85980;ABM85983;ABQ58815;ABQ59099;BAA14121;BAD96460;BAD96708;BAG35194;BAH11476;BAH12323;BAH12361;CAA36933;CAA36934;EAW98960;EAW98961;NP_000275;NP_001166925;NP_001166926;NP_001166927;P08559;XP_006724558 Hs.530331 1645303;1676490;1689646;1701900;1701976;1703002;1729067;1741329;1741859;2145660 DXS9734;GDB:180536;GDB:186145;GDB:192510;GDB:438035;GDB:677354;Pdha1;RH65815;RH81017;RH93821 PDHA;PDHCE1A;PHE1A OTTHUMP00000023015;PDHE1-A type I;pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial;pyruvate dehydrogenase complex, E1-alpha polypeptide 1 APPROVED protein-coding ENSG00000131828 HGNC:8806 02420 300502;308930;312170 REVIEWED 1352009 PDHX pyruvate dehydrogenase complex, component X The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] 11 11 11 p13 35085014 35165000 + 34937677 35017675 + 34916130 34996128 + 1580863;2307427;6480464;8554872;8699517 11795479 10568747;11756538;11935326;12372595;12477932;12573248;12676647;12816949;14638692;15489334;16189514;16263718;16344560;16442803;16566017;16629643;16843025;16904023;17024456;20800603;20877624;2112155;21139048;21194677;21988832;22766002;22939629;23443559;24639526;7273846;7864652;8584393;8619474;9110174;9242632;9399911;9467010 8050 E9PLU0;E9PRI6;H0YD97;O00330 AA282215;ABBA01060862;ABBA01060863;AC107928;AF001437;AF052166;AJ298105;AK301384;AK312463;AL138810;AMYH02024591;BC010389;BI915296;BX648910;CH471064;DA573433;NG_013368;NM_001135024;NM_001166158;NM_003477;U79296;U82328;Y13145 AAB50223;AAB66315;AAC39661;AAH10389;ADZ15408;BAG35370;BAG62924;CAA73606;CAC18649;EAW68158;EAW68159;EAW68160;NP_001128496;NP_001159630;NP_003468;O00330 Hs.502315 2150240;2171406;2217722;5124285 A003A07;A008X12;PDHX_3485;RH65281 DLDBP;E3BP;OPDX;PDX1;proX OTTHUMP00000233038;OTTHUMP00000233039;OTTHUMP00000233040;dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex;lipoyl-containing pyruvate dehydrogenase complex component X;pyruvate dehydrogenase complex, E3-binding protein subunit;pyruvate dehydrogenase complex, lipoyl-containing component X;pyruvate dehydrogenase protein X component, mitochondrial APPROVED protein-coding ENSG00000110435 HGNC:21350 02002 608769 REVIEWED 1348495 PDIA3P1 protein disulfide isomerase family A, member 3 pseudogene 1 1 1 1 q21.1 122333319 122335417 - 146649430 146651528 + 147177851 147179949 + 9205111 171423 ABBA01004398;AC241584;AK295985;AL356378;BI712496;BM555251;NR_002305;U75886 BAG58760 Hs.658566 1736136;2139612;2209060 D15S1334;D1S2018E;stSG627935 ERp60;GRP58P;PDIA3P APPROVED pseudo HGNC:4607 PROVISIONAL 736070 PDGFA platelet-derived growth factor alpha polypeptide The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer or as a heterodimer with the platelet-derived growth factor beta polypeptide, where the dimers are connected by disulfide bonds. Studies using knockout mice have shown cellular defects in oligodendrocytes, alveolar smooth muscle cells, and Leydig cells in the testis; knockout mice die either as embryos or shortly after birth. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p22 505832 559337 - 536895 559481 - 497258 520123 - 1580847;1580863;2289672;2292153;2292158;2292203;2311066;2298579;2298582;2292156;2292161;2311649;2292155;2292163;6480464;6484113;6907045;8554872 11005132;11994382;12808179;16294022;16383039;16601314;17439406;17519529;18205704;7524068;8447423;8619189;9200407 10358027;10508235;10598812;10681572;10806482;11678848;11788434;12070119;12411321;12477932;12576295;12615918;12645527;12670444;12670890;1281549;12850832;12972619;1311092;1317862;1360804;14573617;14633628;14705808;14708943;14997209;1505216;1512241;15631865;15829977;15890262;1612586;16344560;16462734;16760468;16850112;17087110;17470632;17578349;17852407;17933214;17944929;17958740;17984069;18084257;18174235;18284546;18326546;18332228;1848007;18592007;18808740;18814141;18992915;19019919;19141566;19493486;19559929;19707201;19956642;1997274;20036812;20036815;20083221;20202860;20220555;20224347;20485444;20534510;20730440;20822908;21187969;21559523;21645144;21769672;21771201;21906875;21919032;21931722;21993555;22174424;22266848;22393407;22588000;22617683;22704695;22733151;22949635;22964636;23025904;2315311;23536282;23620752;24378341;2439522;24454980;24480986;2536956;2538439;2544881;2832727;2836953;2842868;287022;291037;3422746;3614363;3614364;3666150;3754619;612586;7073684;7679113;8443409;8486521;8647855;8780057;8900172;9409235;9692901;9739761;9837894 5154 H7BYW6;P04085;Q32M96 A09204;A37535;A37560;A41773;AB451309;AB451439;ABBA01039289;ABBA01039290;ABBA01039291;AC147651;AF085245;AJ238420;AK292217;AMYH02015027;AMYH02015028;AMYH02015029;AMYH02015030;AU118732;BC109246;BE336646;BQ001096;BQ002008;CH236966;CH471144;CQ858324;CS172381;CS172825;CS367416;HC040701;M19984;M19985;M19986;M19987;M19988;M19989;M20488;M20489;M20490;M20491;M20492;M20493;M20494;M21571;M59423;M83575;NG_029727;NM_002607;NM_033023;S50869;S51624;S62078;X03795;X06374;XM_005249770;XM_006715733 AAA60045;AAA60046;AAA60047;AAB26566;AAD13863;AAD13864;AAI09247;AAI41594;AAI46595;AAK29998;AAN76486;BAF84906;BAG70123;BAG70253;CAA00830;CAA02288;CAA02293;CAA02624;CAA27421;CAA29677;CAB59509;CAH23423;CAJ32894;CAJ32906;CAL32765;CBH30541;EAW87160;EAW87161;EAW87162;NP_002598;NP_148983;P04085;XP_005249827;XP_006715796 Hs.535898 1342066;1662129;1725621;1730247;1773103;1786236;2107525;2116668;2129465;2173088 D7S2563;D7S2747;D7S540E;G10519;G62094;PDGFA;PRKAR1B;PRKAR1B__7235;SGC35032;SHGC-130833 PDGF-1;PDGF-A;PDGF1 OTTHUMP00000199955;OTTHUMP00000199956;PDGF A-chain;PDGF subunit A;platelet-derived growth factor A chain;platelet-derived growth factor alpha chain;platelet-derived growth factor alpha isoform 2 preproprotein;platelet-derived growth factor subunit A APPROVED protein-coding ENSG00000197461 HGNC:8799 01424 173430 REVIEWED 1605716 PDIA4 protein disulfide isomerase family A, member 4 ENCODES a protein that exhibits poly(A) RNA binding; protein disulfide isomerase activity (ortholog); INVOLVED IN chaperone-mediated protein folding (ortholog); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; Vibrio cholerae infection pathway; FOUND IN cell surface; INTERACTS WITH 5-fluorouracil; antimony(0); chromium atom 7 7 7 q35 143370993 143396607 - 148700154 148725782 - 149003051 149028690 - 6480464;6907045 10887119;12218051;12218052;12397072;12475965;12477932;12643545;12690205;12938929;1318337;1512535;15489334;15644496;16182193;16257961;16344560;17081065;17170699;17301129;17353931;18620548;19322201;19834535;19995400;20000738;2002068;20360068;20458450;20802462;20881960;21139048;21319273;21320693;21743296;21890473;21900206;21906983;22190034;22230366;22304920;22586326;22863883;22939629;2295602;23000965;23206338;24244333;24250222;24583282;24599957;24816145;2549034;9006956;9694898;9847074 9601 C9JMN9;P13667 AACC02000041;ABBA01033606;ABBA01033607;ABBA01033608;AC093743;AK290971;AK313299;AMYH02017035;AMYH02017036;AU139362;BC000425;BC001928;BC006344;BC011754;BX330378;CH471146;CS288587;CX871856;NM_004911;XM_006716185 AAH00425;AAH01928;AAH06344;AAH11754;AAQ96863;ABM84499;ABM85273;BAF83660;CAK18764;EAL24425;EAW80065;EAW80066;NP_004902;P13667;XP_006716248 Hs.93659 1643636;1658316;2114802;2119782;2125949 D7S2640;G27935;RH12856;RH16208;RH47225 ERP70;ERP72;ERp-72 ER protein 70;ER protein 72;OTTHUMP00000196763;endoplasmic reticulum resident protein 70;endoplasmic reticulum resident protein 72;protein disulfide isomerase related protein (calcium-binding protein, intestinal-related);protein disulfide isomerase-associated 4;protein disulfide-isomerase A4 protein-coding ENSG00000155660 HGNC:30167 06501 VALIDATED 732897 PDGFRB platelet-derived growth factor receptor, beta polypeptide This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Jul 2008] 5 5 5 q33.1 145574776 145616798 - 149493402 149535447 - 150113839 150155884 - 1580850;1580851;1580863;2292203;2292200;2292214;2292206;2292178;2292228;2292215;2292198;2298578;2311646;2298579;2292211;2311654;2292174;2292176;2290496;6480464;6484113;6907045;7240710;8699517;8554872 10802145;11973598;11994382;12047046;12533868;12819032;15067514;15077122;15722379;15791568;15994946;16741576;16865223;17050049;17390053;17519529;17854058;8504434 10022833;10026169;10066366;10336465;10391677;10514377;10697503;10733900;10805725;10806474;10821867;10938113;10964931;11027258;11046132;11172806;11266449;11331881;11331882;11350938;11567151;11861293;11882663;11896619;11903042;11919393;12062403;12177062;12381737;12477932;12480944;12551917;12681492;12700668;12717448;12933652;12941951;1314164;1333047;1372092;1374684;1385407;14514732;14612918;14657000;14705808;14745431;14871970;14966296;14973141;14996833;15054045;15087372;15146197;15271984;15284236;15340161;15377662;15380338;15489334;15504957;15522237;15588985;15630487;15640155;15665766;15763428;15828871;15862965;15889147;15902258;15944146;15987639;15994317;16007172;16135792;16149045;16189514;16407661;16456542;16477012;16479011;1653029;16617096;16899864;1696179;17047316;17082185;17145809;17158602;1720539;17229632;17296564;17298867;17301821;17344284;17363728;17403678;17431412;17448020;17462601;17470632;17568996;17584975;17599906;17620338;17727656;17785434;17872908;17981115;17991872;18077793;18157090;18193084;18262053;18288404;18326546;18331602;18369471;1847074;18483410;18492696;18519768;18524994;18541413;18593464;18621860;18697203;18809244;18950621;19006078;19016370;19028276;19035305;19041155;19074160;19074885;19092051;19115205;19167335;19180499;19242504;19280218;19302534;19333949;19369415;19377443;19386600;19497963;19542682;19582773;19636022;19644140;19696027;19717644;19815557;19839721;19843560;19913121;19952113;19953087;20103629;20107158;20164181;20197394;20301334;20301594;20377208;20424473;20453000;20505768;20510677;20534510;20571834;20610572;20613589;20624165;20628086;20628624;20637704;20659339;20822908;20950212;21074616;21097719;21098708;21118571;21124835;21139048;21186266;21310211;21409488;21429937;21492463;21536039;2157284;21574155;21590454;2161888;21729646;2173144;21769672;21769866;21781317;21787840;21868707;21888769;21938754;22159994;22188481;22262849;22331939;22344267;22415093;22541084;22619173;22661233;22689130;22697462;22805337;22865780;22927028;22939624;22974441;23006663;23042547;23064464;23146028;23255827;23382862;23567961;23591770;23615556;23620752;23651497;23731537;23731542;23748876;23769926;23860180;23861540;23874238;23950591;24012959;24022915;24023874;24046361;24065723;24086766;24182907;24184958;24277456;24378362;24687085;24725405;24733895;2475255;24769756;24772479;24860093;2531695;2536956;2542288;2550144;2554309;2835772;2846185;2850496;3107886;7523122;7537362;7545675;7592796;7665222;7685273;7688466;7689724;7691811;7693727;7876130;7935391;8041791;8195171;8302579;8344248;8388538;8443409;8549654;8586421;8617789;8647855;8647858;8657151;8702949;8890167;8940081;8943344;8947043;9006901;9057949;9207175;9285559;9362449;9373237;9425276;9484840;9492013;9506992;9737977;9739761;9808151;9819414;9920285;9989826 5159 E5RH16;E5RII0;E5RJ14;P09619;Q59F04 AB209657;ABBA01026284;ABBA01026285;AC005895;AC011382;AI346188;AK293093;AMYH02012455;BC032224;CH471062;CN268096;EU826595;J03278;KF458033;M21616;M30493;NG_023367;NM_002609;U33172;XM_005268464 AAA36427;AAA60049;AAC51675;AAH32224;ABM83050;ABW03350;ACF47631;BAD92894;BAF85782;EAW61746;EAW61747;EAW61748;NP_002600;P09619;XP_005268521 Hs.509067 1654774;1796498;1851272;2137122;2146771;2164001;2183212 D5S2602;D5S2862;PDGFRB_1343;RH11092;RH69916;WI-18300;WI-18889 CD140B;IBGC4;IMF1;JTK12;PDGFR;PDGFR-1;PDGFR1 CD140 antigen-like family member B;OTTHUMP00000160528;PDGF-R-beta;PDGFR-beta;beta-type platelet-derived growth factor receptor;platelet-derived growth factor receptor 1;platelet-derived growth factor receptor beta APPROVED protein-coding ENSG00000113721 HGNC:8804 01423 131440;173410;228550;615007 REVIEWED 1605694 PDIA5 protein disulfide isomerase family A, member 5 ENCODES a protein that exhibits oxidoreductase activity (inferred); protein disulfide isomerase activity (inferred); INVOLVED IN activation of signaling protein activity involved in unfolded protein response (inferred); cell redox homeostasis (inferred); cellular protein metabolic process (inferred); FOUND IN endoplasmic reticulum lumen (inferred); endoplasmic reticulum membrane (inferred); INTERACTS WITH (+)-catechin; atrazine; cobalt dichloride 3 3 3 q21.1 121192646 121287739 + 122785856 122880953 + 123067009 123162106 + 6480464 12218051;12218052;12477932;14627699;14702039;15644496;16182193;16712791;16713569;17301129;17342744;20379614;20458450;20796029;22002444;22139419;22190034;22230366;23206338;24037032;24250222;24636989;24654937;24816145;7556671 10954 C9JY10;H7C4F9;Q14554 ABBA01016462;ABBA01016463;AC083797;AK054963;AMYH02007548;BC001625;BM549365;CA414869;CB158962;CH471052;D49490;KF457675;NM_006810;NR_028444;XR_427359;XR_427360 AAH01625;BAA08451;EAW79452;EAW79453;EAW79454;EAW79455;EAW79456;NP_006801;Q14554 Hs.477352 1338968;1706174;1709006;1749541;1759675;5021872;5125533 D3S3645;RH71326;SHGC-111245;SHGC-150764;SHGC-79570;SHGC-80611;sY3084 FLJ30401;PDIR OTTHUMP00000215811;OTTHUMP00000215812;protein disulfide isomerase-associated 5;protein disulfide isomerase-related protein;protein disulfide-isomerase A5 protein-coding ENSG00000065485 HGNC:24811 08334 VALIDATED 1313029 PDIA2 protein disulfide isomerase family A, member 2 Protein disulfide isomerases (EC 5.3.4.1), such as PDIP, are endoplasmic reticulum (ER) resident proteins that catalyze protein folding and thiol-disulfide interchange reactions (Desilva et al., 1996 [PubMed 8561901]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 533017 537108 + 333118 337215 + 283118 287209 + 1580863;6480464;8554872 10970843;11157797;11488911;11968009;12095988;12218051;12218052;12477932;12485997;12766950;14500733;14592831;14684740;14980518;15225124;15489334;15590633;16344560;16407203;16507315;16677073;17055437;17301129;17474147;17978580;18508857;18691554;18801374;19038358;19103594;19150607;19187238;19261606;19429457;19636846;19805615;19821078;19844948;19864457;19913121;19942855;20098615;20130085;20163832;20202930;20368688;20423326;20448108;20458450;20516074;20550946;20562109;20628086;20802462;20886095;21080683;21121641;21297336;21471526;21637911;21757736;21791598;21929690;22090031;22105075;22230366;22685557;22773830;23167757;23206338;23454490;23979138;24415753;8537405;8561901 64714 H0Y4J5;Q13087;Q4TT65 ABBA01030378;ABBA01030379;AE006463;AK075485;AK124931;AK295383;AK308516;AMYH02031186;AMYH02031187;BC000537;BC027964;BC075029;CH471112;DA207692;NM_006849;U19948;Z69667;Z84717 AAC50401;AAH00537;AAH75029;AAI67826;AAK61223;BAG52154;BAG54115;BAG58339;CAI95586;CAI95587;CAI95588;CAO78188;EAW85838;NP_006840;Q13087 Hs.66581 1655114;1802292;1805108;1809156;1809570;1813390;2048468;2048470;2048472;2048474;2048476;2048478;2048480;2048482;2048484;2048486;2048488;2048490;2048492;2048494;2048496;2048498;2048500;2048502;2048504;2048506;2048508;2048510;2048512;2048514;2048516;2048518;2048520;2048522;2048524;2104586;2104588;2104590;2122394;2181597 ECD02030;ECD03496;ECD05568;ECD05777;ECD07716;REN95374;REN95375;REN95376;REN95377;REN95378;REN95379;REN95380;REN95381;REN95382;REN95383;REN95384;REN95385;REN95386;REN95387;REN95388;REN95389;REN95390;REN95391;REN95392;REN95393;REN95394;REN95396;REN95397;REN95398;REN95399;REN95400;REN95401;REN95402;REN95403;RH11656;RH44784;RH71265;stSG609003;stSG609005;stSG609008 PDA2;PDI;PDIP;PDIR OTTHUMP00000067350;OTTHUMP00000197166;Rho GDP dissociation inhibitor gamma;pancreas-specific protein disulfide isomerase;pancreatic protein disulfide isomerase;protein disulfide isomerase A2;protein disulfide isomerase, pancreatic;protein disulfide isomerase-associated 2;protein disulfide-isomerase A2 APPROVED protein-coding ENSG00000185615 HGNC:14180 07617 608012 VALIDATED 1606336 PDIA3 protein disulfide isomerase family A, member 3 This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. [provided by RefSeq, Jul 2008] 15 15 15 q15 20928053 20954266 + 44038326 44064804 + 43746392 43772606 + 6480464;6907045;8554872 10436013;10508608;10929008;11832422;11840567;11842220;12032078;12047747;12052826;12060494;12162574;12218051;12218052;12235131;12239218;12477932;12517784;12643545;12665801;1286667;1286669;12938929;14644099;14732712;14871896;14871899;15236594;15328618;15451439;15489334;15606899;15644496;15862831;15896298;15952740;16002696;1602151;16130169;16182193;16193070;16236267;16303743;16341674;16368681;16428306;16940051;16962936;17055437;17061245;17081065;17150345;17170699;17188166;17301129;17456022;17467700;17704119;17728248;17822402;17848102;17964282;18029348;18039656;18303019;18650385;18976975;19054761;19064571;19119025;19135240;19199708;19411306;19701894;19714814;19995400;19995546;20029959;20035634;20064506;20360068;20458450;20506389;20596667;20596672;20802462;21139048;21252943;21319273;21321085;21362330;21598303;21832049;21837552;21840908;21890473;21917082;21963094;21996511;22168334;22190034;22207023;22230366;22266712;22304920;22322599;22484374;22503978;22536838;22863883;22923333;22939629;22944692;23000965;23206338;23226417;23255428;23587917;23625662;23752268;23781031;23827315;23862649;23874603;23956138;23957851;24030382;24040290;24188822;24457600;24490732;24583282;24599957;24815697;24816145;3398923;7487104;8529662;8624847;8687406;8805302;8974399;9150946;9150948;9153243;9205111;9399589;9545232 2923 AAB37397;F8WBS6;F8WBW5;H7BZJ3;P30101;V9HVY3 ABBA01039223;ABBA01039224;AC018512;AI769725;AK075455;AK075481;AK293249;AMYH02030324;BC014433;BC036000;BC071878;BE644608;BG826781;BM854408;CH471082;CS288579;D16234;D83485;EU668338;FJ224330;JA462406;NM_005313;U42068;U75875;U75876;U75877;U75878;U75879;U75880;U75881;U75882;U75883;U75884;U75885;Z49835 AAB37397;AAC50331;AAC51518;AAH14433;AAH36000;AAH71878;ABM83996;ABM87324;ACF94491;ACI46022;BAA03759;BAA11928;BAG52144;BAG52151;BAG56782;CAA89996;CAK18760;CCD35251;EAW77234;EAW77235;EAW77236;NP_005304;P30101 Hs.591095 1681837;1721133;1736136;1798698;1799266;1801048;1803734;1803854;1809810;1811416;1811656;1812610;1812834;1813056;1818400;1820024;1822408;1823288;1829030;1833836;1836312;1837116;1838716;1841586;1842290;1842826;1842940;1933132;1933144;1933156;1933352;1933354;1933356;1933358;1933360;1933362;1933364;1933366;1933368;1933370;1933372;1933374;1933376;1933378;1933380;1933382;1933384;1933386;1933388;1933390;1933392;1933394;1933396;1933398;1933400;1933402;1933404;1933406;1933408;1933410;1933412;1933414;1933416;1933418;1933420;1933422;1933424;1933426;1933428;1933430;1933432;1933434;1933436;1933438;1933440;1933442;1933444;1933446;1933448;1933450;1933452;1933454;1933456;1933458;1933460;1933462;1933464;1933466;1933468;1933470;1933472;1933474;1933476;1933478;1933480;1933482;1933484;1933486;1933488;1933490;1933492;1933494;1933496;1933498;1933500;1933502;1933504;1933506;1933508;1933510;1933512;1933514;1933516;1933518;1933520;1933522;1933524;1933526;1933528;1933530;1933532;1933534;1933536;1933538;1933540;1933542;1933544;1933546;1933548;1933550;1933552;1933554;1933556;1933558;1933560;1933562;2139612;2208962;2209038;2209040;2209042;2209044;2209046;2209048;2209050;2209052;2209054;2209056;2209058;2209060;2209062;2209064;2209066;2209068 D15S1334;D1S2018E;ECD00189;ECD00481;ECD01392;ECD02774;ECD02838;ECD05897;ECD06706;ECD06831;ECD07315;ECD07430;ECD07547;ECD10258;ECD11084;ECD12292;ECD12733;ECD15642;ECD18064;ECD19318;ECD19723;ECD20536;ECD21990;ECD22348;ECD22620;ECD22678;G59551;REN37398;REN37404;REN37411;REN37509;REN37510;REN37511;REN37512;REN37513;REN37514;REN37515;REN37516;REN37517;REN37518;REN37519;REN37520;REN37521;REN37522;REN37523;REN37524;REN37525;REN37526;REN37527;REN37528;REN37529;REN37530;REN37531;REN37532;REN37533;REN37534;REN37535;REN37536;REN37537;REN37538;REN37539;REN37540;REN37541;REN37542;REN37543;REN37544;REN37545;REN37546;REN37547;REN37548;REN37549;REN37550;REN37551;REN37552;REN37553;REN37554;REN37555;REN37556;REN37557;REN37558;REN37559;REN37560;REN37561;REN37562;REN37563;REN37564;REN37565;REN37566;REN37567;REN37568;REN37569;REN37570;REN37571;REN37572;REN37573;REN37574;REN37575;REN37576;REN37577;REN37578;REN37579;REN37580;REN37581;REN37582;REN37583;REN37584;REN37585;REN37586;REN37587;REN37588;REN37589;REN37590;REN37591;REN37592;REN37593;REN37594;REN37595;REN37596;REN37597;REN37598;REN37599;REN37600;REN37601;REN37602;REN37603;REN37604;REN37605;REN37606;REN37607;REN37608;REN37609;REN37610;REN37611;REN37612;REN37613;REN37614;RH69689;stSG627845;stSG627922;stSG627924;stSG627925;stSG627926;stSG627927;stSG627928;stSG627929;stSG627930;stSG627932;stSG627933;stSG627934;stSG627935;stSG627936;stSG627937;stSG627938;stSG627939 ER60;ERp57;ERp60;ERp61;GRP57;GRP58;HEL-S-269;HEL-S-93n;HsT17083;P58;PI-PLC 58 kDa glucose-regulated protein;58 kDa microsomal protein;ER protein 57;ER protein 60;OTTHUMP00000041709;disulfide isomerase ER-60;endoplasmic reticulum P58;endoplasmic reticulum resident protein 57;endoplasmic reticulum resident protein 60;epididymis secretory protein Li 269;epididymis secretory sperm binding protein Li 93n;glucose regulated protein, 58kDa;phospholipase C-alpha;protein disulfide isomerase-associated 3;protein disulfide-isomerase A3 APPROVED protein-coding ENSG00000167004 HGNC:4606 03625 602046 REVIEWED 1352576 PDIK1L PDLIM1 interacting kinase 1 like ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; clorgyline; formaldehyde 1 1 1 p36.11 24834353 24848731 + 26437656 26452039 + 26111165 26125548 + 1580863;6480464 12477932;14631099;15489334;15489335;16344560;16710414;19756140;21906983;22505724;22939624;8597870;8889548 149420 Q8N165;X6RHF8 ABBA01034897;AF411102;AK312872;AL137407;AL391650;AL834290;AMYH02000553;AMYH02000554;AX262513;BC028713;BC035401;BU742621;CH471059;CV024336;DA221039;DB227864;DB233669;NM_001243532;NM_001243533;NM_152835;XM_005245743;XM_006710381 AAH28713;AAN03661;BAG35724;CAD10236;CAD38964;EAX07845;EAX07846;EAX07847;NP_001230461;NP_001230462;NP_690048;Q8N165;XP_005245800;XP_006710444 Hs.468801;Hs.736837 1675209;2173817;5093532 A009Q18;G32774;SHGC-74390 CLIK1L;RP11-96L14.4;STK35L2 OTTHUMP00000008702;OTTHUMP00000008703;OTTHUMP00000008704;PDLIM1-interacting kinase 1-like;casein kinase;serine/threonine-protein kinase PDIK1L protein-coding ENSG00000175087 HGNC:18981 15110 610785 VALIDATED 1602970 PDILT protein disulfide isomerase-like, testis expressed INVOLVED IN cell migration (inferred); cell redox homeostasis (inferred); multicellular organismal development (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH mono(2-ethylhexyl) phthalate (ortholog); paracetamol (ortholog); pirinixic acid (ortholog) 16 16 16 p12.3 19519698 19565466 - 20370492 20416064 - 20359170 20404742 - 6480464;8554872 12477932;14702039;15475357;20383146;22797727;24662985 204474 I3L1W7;Q8N807 ABBA01028278;ABBA01028279;AC106796;AC137056;AK097476;AMYH02031661;BC042607;BC044936;CH471186;NM_174924;XM_005255167;XM_006721024 AAH42607;AAH44936;BAC05068;EAW50316;NP_777584;Q8N807;XP_005255224;XP_006721087 Hs.376025 1644392;1733214;2133149 D16S2979;D16S3230;D16S366 PDIA7 OTTHUMP00000162211;protein disulfide isomerase family A, member 7;protein disulfide isomerase-like protein of the testis;protein disulfide-isomerase-like protein of the testis protein-coding ENSG00000169340 HGNC:27338 15111 PROVISIONAL 8548748 PDK1P1 pyruvate dehydrogenase kinase, isozyme 1 pseudogene 1 9 9 9 29246766 29247885 + 29317831 29318950 + 29317833 29318952 + 100421194 ABBA01065115;AL353684;AMYH02019376;NG_023886 pseudo HGNC:49808 INFERRED 730916 PDGFRA platelet-derived growth factor receptor, alpha polypeptide This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] 4 4 4 q12 52596023 52665170 + 55095264 55164412 + 54229097 54298245 + 1580848;1580849;1580863;2292154;2292178;2292163;2298578;2298580;2298579;2292156;2292165;1580851;2292157;2292177;2292199;2292203;2324850;2324851;6480464;6484113;6907045;7240710;8554872;8699517 11920744;11994382;12866380;14630792;14695158;15284118;15342968;15722379;15791568;16383039;16741576;17049587;17519529;7524068;7665222;8402626;8610136 10066366;10508235;10733900;10734113;10806482;10837138;11046132;11095946;11175793;11279102;11297552;11342471;11468294;11752456;11776032;11882663;11953315;12023424;12119411;12176024;12477932;12522257;12660384;12808148;12842979;14741194;14745431;14766209;15154005;15326474;15380338;15489334;15492989;15635072;15674355;15685537;15717329;15862965;15871904;15894928;15897742;15928335;16116920;16126374;16135486;16168125;16186508;16283668;16305343;16331269;16344560;16357008;16373964;1646396;16498388;16502585;16675559;16685437;16690743;16697720;16730575;16785193;16804324;16850112;16892550;17047316;17070723;17079230;1711435;17137731;17145809;17193822;17214097;17261495;17298867;17299092;17344284;17363728;17377585;17438095;17448020;17452978;17470632;17532173;17566086;17568391;17591942;17623951;17673922;17690840;17701174;17762857;17827398;17881156;18042065;18070887;18077793;18084259;18157090;18187489;18190445;18193045;18197502;18265649;18284546;18288404;18312355;18314611;18326546;18331602;18360281;18416137;18464291;1847074;18492696;18519768;18547963;18548106;18615679;18618605;18633616;18636362;18679424;18686281;18701889;18706197;18758297;18950958;18955458;18978678;18987651;18992915;19035305;19047372;19074885;19115205;19118897;19126548;19212337;19215021;19248967;19291337;19302534;19307738;19326424;19333543;19333919;19333949;19335066;19351817;19393245;19411681;19448595;19496203;19563658;19614767;19644140;19648886;19649203;19675092;19694830;19696981;19707201;19717644;19755855;19756614;19779861;19787330;19839721;19843560;19846951;19861461;19862822;19900103;19913121;19936766;19943934;19946888;19953087;19956635;20001342;20023271;20036812;20071345;20107158;20129251;20133985;20139978;20169295;20379614;20393746;20424473;20425130;20442296;20453000;20470368;20473908;20479398;20485444;20589679;20598160;20615084;20628086;20634891;20651400;20686603;20718716;20800603;20823768;20861712;20889717;21080877;21092857;21131919;21157293;21210262;21224473;21274753;21281241;21310211;21357737;21382095;21387320;21396851;21397860;21399396;21403518;21434524;21461555;21478825;21496277;21527588;21574155;21590454;21596750;21605429;2161888;21642621;21645144;21665993;21725412;21769672;21818111;21819482;21947029;21953054;21988832;21993628;22076173;22080864;22137795;22144915;22160160;22237707;22293178;22311673;22323597;22327316;22389665;22394371;22399613;22411791;22447844;22449154;22473090;22520943;22523564;22543129;22558483;22593460;22650155;22661233;22670177;22697462;22718859;22744707;22933705;22944561;22969067;22986233;23000965;23064464;23074200;23106360;23146028;23171083;23242283;23243022;23291969;23292839;23391309;23401653;23411580;23438035;23567961;23577108;23602568;23618877;23620752;23621172;23621836;23630597;23671131;23696920;23696935;23752188;23755839;23761726;23776077;23833305;23914042;23928059;23940030;23970477;23990986;24022915;24040448;24132921;24151977;24157063;24190966;24266839;24369323;24458279;24489888;24550449;25033601;2531695;2536956;2542288;2544881;2554309;7519254;7523122;7535778;7896447;8188664;8261442;8486649;8586421;8617789;8647855;8647858;8702949;8774134;8894141;8943348;9234717;9484840;9546424;9739761;9819414 5156 D6RDX0;D6RG11;D6RIG5;D6RJH0;P16234 AA599881;AA625689;ABBA01003401;ABBA01003402;AC098587;AC138779;AK308353;AK311006;AK316578;AMYH02009229;AMYH02009230;AV689272;BC015186;BC063414;CH471057;CS172399;CS172821;CS566148;D50017;DA678599;HC040719;L25829;M21574;M22734;M30494;NG_009250;NM_006206;X76079;XM_005265743;XM_006714039;XM_006714040;XM_006714041 AAA60048;AAA96715;AAH15186;AAH63414;BAA08742;BAG38166;CAJ33669;CAJ33686;CAN37625;CBH30545;EAX05457;EAX05458;NP_006197;P16234;XP_005265800;XP_006714102;XP_006714103;XP_006714104 Hs.74615 1647083;1669327;1675513;1694754;1709644;1745607;1774709;1796496;5117875 D4S1394;G34454;G43580;GDB:626067;GDB:626070;PDGFRA__1207;RH68733;SHGC-8069;SHGC-85185 CD140A;MGC74795;PDGF-R-alpha;PDGFR-2;PDGFR-alpha;PDGFR2 CD140 antigen-like family member A;CD140a antigen;OTTHUMP00000158882;OTTHUMP00000218656;PDGFRA/BCR fusion;RHEPDGFRA;alpha platelet-derived growth factor receptor;alpha-type platelet-derived growth factor receptor;platelet-derived growth factor alpha receptor;platelet-derived growth factor receptor 2;platelet-derived growth factor receptor alpha;rearranged-in-hypereosinophilia-platelet derived growth factor receptor alpha fusion protein APPROVED protein-coding ENSG00000134853 HGNC:8803 01429 173490;606764;607685 REVIEWED 1353771 PDLIM1P1 PDZ and LIM domain 1 pseudogene 1 14 14 14 q21.3 30384134 30385528 + 50517007 50518404 + 50050289 50051686 + 326616 ABBA01018128;AL117692;AMYH02029162;NG_002606 PDLIM1P APPROVED pseudo HGNC:20026 INFERRED 68448 PDLIM1 PDZ and LIM domain 1 This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012] 10 10 10 q23.1 90738487 90791969 - 96997325 97050905 - 95237568 95291148 - 1580863;6480464 10022510;10753915;10861853;11110697;11882901;11973348;12464179;12477932;12665801;15144186;15164054;15489334;15592455;16169070;16189514;16385451;16609848;17213842;19117995;21041247;21139048;21651830;21680739;21890473;21900206;22851037;22863883;22922308;22939629;24816145;8522188 9124 O00151;V9HW92 ABBA01021839;AJ310549;AK314792;AL157834;AL160288;AMYH02023580;AY923052;BC000915;BC018755;CD368928;CH471066;FJ224331;HY025482;NM_020992;U90878 AAC05580;AAH00915;AAH18755;AAW82438;ABZ92393;ACI46023;BAG37323;CAC32846;EAW50009;EAW50010;EAW50011;EAW50012;NP_066272;O00151 Hs.368525 1695026;2135653;5100490 A002E05;D10S181E;G44727 CLIM1;CLP-36;CLP36;HEL-S-112;hCLIM1 C-terminal LIM domain protein 1;LIM domain protein CLP-36;OTTHUMP00000020137;PDZ and LIM domain 1 (elfin);PDZ and LIM domain protein 1;carboxy terminal LIM domain protein 1;carboxyl terminal LIM domain protein 1;elfin;enigma;epididymis secretory protein Li 112 protein-coding ENSG00000107438 HGNC:2067 09326 605900 REVIEWED 1354298 PDIA6 protein disulfide isomerase family A, member 6 Protein disulfide isomerases (EC 5.3.4.1), such as PDIA6, are endoplasmic reticulum (ER) resident proteins that catalyze formation, reduction, and isomerization of disulfide bonds in proteins and are thought to play a role in folding of disulfide-bonded proteins (Hayano and Kikuchi, 1995 [PubMed 7590364]).[supplied by OMIM, Mar 2008] 2 2 2 p25.1 10838663 10868105 - 10908889 10978103 - 10767795 10837977 - 1580863;6480464;6907045;8554872 12204115;12218051;12218052;12477932;12643545;14702039;15280358;15302935;15308636;15466936;15489334;15644496;15952740;1602151;16130169;16182193;16236267;16344560;16396496;16964243;17081065;17081983;17215244;17301129;17353931;17495932;18187620;18781797;19135240;19738201;19887585;20000738;20360068;20379614;20458450;21081666;21103663;21110914;21139048;21145461;21319273;21890473;21906983;21988832;22113938;22167753;22190034;22215138;22230366;22268729;22645275;22863883;22936677;22939629;23000965;23142642;23184937;23206338;23349634;23463506;23798571;23862649;24244333;24583282;24816145;7590364;8125298;8619474;9110174 10130 C9JNG5;Q15084 ABBA01015631;AC092687;AK125449;AK127433;AK131234;AK225496;AK289428;AK294347;AK297547;AMYH02003273;AMYH02003274;BC001312;BF979486;BM511594;CH471053;D49489;DA976962;HY166449;NM_001282704;NM_001282705;NM_001282706;NM_001282707;NM_005742;U79278;XM_005246145;XM_006711856 AAB50217;AAH01312;AAY24070;ABM82112;ABM85295;BAA08450;BAC86977;BAF82117;BAG54757;BAH11740;BAH12614;EAX00949;EAX00950;NP_001269633;NP_001269634;NP_001269635;NP_001269636;NP_005733;Q15084;XP_005246202;XP_006711919 Hs.212102;Hs.580464 2156296;2160682;2163822;2166235 RH11818;RH70399;SGC31703;WI-18107 ERP5;P5;TXNDC7 ER protein 5;OTTHUMP00000115548;OTTHUMP00000200409;OTTHUMP00000200410;endoplasmic reticulum protein 5;protein disulfide isomerase P5;protein disulfide isomerase-associated 6;protein disulfide isomerase-related protein;protein disulfide-isomerase A6;thioredoxin domain containing 7 (protein disulfide isomerase);thioredoxin domain-containing protein 7 APPROVED protein-coding ENSG00000143870 HGNC:30168 07504 611099 VALIDATED 7248362 PDLIM1P2 PDZ and LIM domain 1 pseudogene 2 17 17 17 21207795 21208399 + 21348143 21348747 - 21444831 21445435 - 100419426 ABBA01050469;AC068418;AMYH02033199;NG_026158 pseudo HGNC:48945 INFERRED 69113 PDK4 pyruvate dehydrogenase kinase, isozyme 4 This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008] 7 7 7 q21.3 89911513 89924633 - 95212809 95225925 - 95583497 95596613 - 1580863;2307427;2307428;6480464;8554872 11795479;17310282 11001762;11485553;11486000;11701428;11978179;12145475;12477932;12573248;12582211;12606505;12676647;12690205;12853948;14702039;14966024;15047604;15489334;15516373;15581486;15618316;15721319;15776585;15955060;16344560;16757381;17623298;17652214;17669420;18468620;18519799;18658136;18660489;20715114;20877624;21852536;21883960;21904029;21906983;21963094;22019269;23050013;23842279;7499431;8125298;8798399;9787110 5166 A4D1H4;Q16654 ABBA01045776;AC002451;AF334710;AK096428;AK098151;AK223328;AK312424;AMYH02016291;BC040239;CH236949;CH471091;DA923767;DB035430;NM_002612;U54617;U54618;U54619;U54620;U54621;U54622;U54623;U54624;U54625;U54626;U54627;U54628 AAB67048;AAC50669;AAC50670;AAH40239;ABM82182;ABM85367;BAD97048;BAG35334;BAG53287;BAG53583;EAL24128;EAW76757;EAW76758;EAW76759;NP_002603;Q16654 Hs.8364 1651786;1651915;1736336;1797980;1847779;2181988 2094;A002R16;D13S839E;D7S2331;PDK4_1720;RH70675 FLJ40832 OTTHUMP00000204768;[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial;[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 4, mitochondrial;pyruvate dehydrogenase kinase, isoenzyme 4;pyruvate dehydrogenase, lipoamide, kinase isozyme 4, mitochondrial APPROVED protein-coding ENSG00000004799 HGNC:8812 03957 602527 REVIEWED 7248317 PDLIM1P3 PDZ and LIM domain 1 pseudogene 3 17 17 17 22195129 22195735 - 25329679 25330285 - 27002653 27003259 - 100419427 ABBA01015073;AC069061;AMYH02033205;NG_026160 pseudo HGNC:48946 INFERRED 69480 PDK1 pyruvate dehydrogenase kinase, isozyme 1 Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013] 2 2 2 q31.1 167033973 167077058 + 173420101 173490351 + 172555373 172625623 + 1580863;2307427;2307428;6480464;6907045;8554872 11795479;17310282 10567431;10753910;11279232;11485553;11486000;11733037;11889038;11978179;12150926;12477932;12573248;12676647;14702039;14718574;14966024;15489334;15591305;15678105;16344560;16517405;17110931;17314099;17683942;17785433;18003900;18541534;18542064;18954447;19010391;20415663;20416077;20877624;21775285;21900206;22347420;22623531;22704111;22948140;23135628;23300259;23811558;23887393;23893244;24044887;24123565;24797263;25092657;7499431;7864652 5163 B7Z207;B7Z7N6;C9IYB4;C9JKT3;F8WC75;F8WEJ6;Q15118 ABBA01020743;AC018712;AC093818;AK056110;AK294194;AK302321;AK304388;AK312700;AMYH02005240;AMYH02005241;AMYH02005242;AU118504;BC039158;BQ023252;BX485353;CH471058;DC322401;DQ234350;L42450;NM_001278549;NM_002610;NR_103729;NR_103731;XM_006712594;XM_006712595;XR_427093;XR_427094;XR_427095 AAC42009;AAH39158;AAY14915;ABB29979;ABM82226;ABM84274;ABM85410;ABM87667;BAG35578;BAH11693;BAH13672;BAH14173;EAX11173;EAX11174;NP_001265478;NP_002601;Q15118;XP_006712657;XP_006712658 Hs.470633;Hs.733780 1683906;1695462;1699340;1734828;1796500;2111336 D2S1506E;D2S1584E;PDK1_1399;RH103257;RH80374;SHGC-68589 OTTHUMP00000163127;OTTHUMP00000205076;OTTHUMP00000205077;OTTHUMP00000205082;PDH kinase 1;[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial;[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial;mitochondrial pyruvate dehydrogenase, lipoamide, kinase isoenzyme 1;pyruvate dehydrogenase kinase, isoenzyme 1 APPROVED protein-coding HGNC:8809 03954 602524 REVIEWED 7247933 PDLIM1P4 PDZ and LIM domain 1 pseudogene 4 3 3 98501053 98502034 + 98782209 98783190 + 100419185 ABBA01061816;AC106728;AMYH02007290;NG_025722 pseudo HGNC:48947 INFERRED 69481 PDK2 pyruvate dehydrogenase kinase, isozyme 2 This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 17 17 17 q21.33 44632807 44648538 + 48172101 48188733 + 50094737 50111369 + 1580863;2307427;2307428;6480464 11795479;17310282 10191262;10438924;10748134;11483605;11485553;11486000;11642366;11701428;11978179;12477932;12573248;12676647;12816949;14702039;15020699;15169745;15489334;15491150;15491151;15504108;15955060;16169070;16344560;16401071;16517984;16962287;17669420;18029348;18220414;18220415;19147752;19194729;19833728;20877624;21115670;21988832;22123926;22614004;22910903;23300259;23376776;24356970;7499431 5164 B4DLP2;D6R983;D6RDN9;D6RGV8;D6RHG2;D6RJH7;Q15119 ABBA01041227;AC002401;AK055119;AK290522;AK293600;AK297089;AMYH02033584;AW302405;AW469593;BC005811;BC040478;BC063137;BQ024783;BQ071206;CH471109;DA199055;L42451;NM_001199898;NM_001199899;NM_001199900;NM_002611 AAC42010;AAH05811;AAH40478;AAH63137;ADZ15919;BAF83211;BAG51472;BAG57064;BAG59604;EAW94642;EAW94643;EAW94644;NP_001186827;NP_001186828;NP_001186829;NP_002602;Q15119 Hs.256667 1664004;1740071;1771270;1854459;1854461;2191799 A005W12;D17S1781;G20548;IB663;MARC_7915-7916:996688163:1;RH11762 PDHK2;PDKII OTTHUMP00000220889;OTTHUMP00000220890;OTTHUMP00000220957;PDH kinase 2;[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial;[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 2, mitochondrial;pyruvate dehydrogenase kinase, isoenzyme 2;pyruvate dehydrogenase, lipoamide, kinase isozyme 2, mitochondrial APPROVED protein-coding ENSG00000005882 HGNC:8810 03955 602525 REVIEWED 1351346 PDLIM3 PDZ and LIM domain 3 The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012] 4 4 4 q35 183749238 183781710 - 186421814 186456712 - 185500660 185535558 - 6480464 10063829;12477932;15084604;15203218;15489334;16192291;16344560;17254821;17258832;18029348;19412328;20801532;21549096;22412018;23824909;8125298;8661126;8828038;9334352 27295 D6RAF1;Q53GG5 ABBA01070534;ABBA01070535;ABBA01070536;AC106897;AF002280;AF002282;AF039018;AK129607;AK129863;AK222966;AK313253;AMYH02010665;BC001017;BC027870;BI913867;BT007341;BX647263;C03422;CD625728;CH471056;CR739525;DA898089;NG_032576;NM_001114107;NM_001257962;NM_001257963;NM_014476;NR_047562 AAB96665;AAC16670;AAC16672;AAH27870;AAP36005;BAC85195;BAD96686;BAG36063;EAX04638;EAX04639;EAX04640;EAX04641;NP_001107579;NP_001244891;NP_001244892;NP_055291;Q53GG5 Hs.701364 1298155;1673939;1681494;1695308;1735352;1735356;1766899;1779140;1849881;2124927;2161970;2187100;5024756;5095050;5125571 D4S2474E;D4S2478E;D4S2924;D4S475;PDLIM3;RH80030;RH94037;SHGC-152352;SHGC-58157;SHGC-59720;SHGC-59837;SHGC-63497;SHGC-63498;SHGC-67694;SHGC-67723 ALP;DKFZp686L0362;FLJ26096 OTTHUMP00000218153;OTTHUMP00000218154;PDZ and LIM domain protein 3;actinin-associated LIM protein;alpha-actinin-2-associated LIM protein;enigma homolog APPROVED protein-coding ENSG00000154553 HGNC:20767 08388 605889 REVIEWED 1353458 PDLIM4 PDZ and LIM domain 4 This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009] 5 5 5 q31.1 127723467 127739259 + 131593351 131609147 + 132257658 132273454 + 1580863;6480464;8554872 10826496;11884147;12477932;12908099;14729062;15231747;15489334;15663004;16189514;16192286;16489065;17207965;17332327;19011242;19131452;19212833;19307596;19453261;21139048;21636573;22412388;22695491;23000965;23128233;24039914;8125298;9573374 8572 C9J542;P50479 ABBA01068808;AC034220;AF153882;AF154335;AK225407;AK313508;AMYH02012214;AW590987;BC003096;BC016765;BF689609;BF690514;BT007019;CH471062;DN997097;KC877101;NG_015836;NM_001131027;NM_003687;U82997;X93510;XM_006714723 AAC52072;AAD34646;AAD38070;AAH03096;AAH16765;AAP35665;ADQ32341;BAG36288;CAA63767;EAW62349;EAW62350;EAW62351;NP_001124499;NP_003678;P50479;XP_006714786 Hs.424312 1338125;1798646;1801906;1802662;1805226;1806234;1806322;1807490;1807540;1807602;1808156;1808646;1808862;1812016;1812986;1820198;1822016;1822696;1827648;1843712;1847575;1997172;1997174;1997176;1997178;1997180;1997182;1997184;1997186;1997188;1997190;1997192;1997194;1997196;1997198;1997200;1997202;1997204;1997206;1997208;1997210;1997212;1997214;1997216;1997218;1997220;1997222;1997224;1997226;1997228;1997230;1997232;1997234;1997236;1997238;1997240;1997242;1997244;1997246;1997248;1997250;1997252;1997254;1997256;1997258;1997260;1997262;1997264;1997266;1997268;1997270;1997272;1997274;1997276;1997278;1997280;1997282;1997284;1997286;1997288;1997290;1997292;1997294;1997296;1997298;1997300;1997302;1997304;1997306;1997308;1997310;1997312;1997314;1997316;1997318;1997320;1997322;1997324;1997326;1997328;1997330;2095804;2095806;2095808;2095810;2095812;2095814;2095816;2095818;2095820;2095822;2095824;2095826;2095828;2095830;2219478 D5S1984;ECD00163;ECD01834;ECD02218;ECD03557;ECD04072;ECD04116;ECD04717;ECD04742;ECD04773;ECD05059;ECD05305;ECD05414;ECD07013;ECD07507;ECD11173;ECD12094;ECD12436;ECD14944;ECD23067;PDLIM4__5849;REN69497;REN69498;REN69499;REN69500;REN69501;REN69502;REN69503;REN69504;REN69505;REN69506;REN69507;REN69508;REN69509;REN69510;REN69511;REN69512;REN69513;REN69514;REN69515;REN69516;REN69517;REN69518;REN69519;REN69520;REN69521;REN69522;REN69523;REN69524;REN69525;REN69526;REN69527;REN69528;REN69529;REN69530;REN69531;REN69532;REN69533;REN69534;REN69535;REN69536;REN69537;REN69538;REN69539;REN69540;REN69541;REN69542;REN69543;REN69544;REN69545;REN69546;REN69547;REN69548;REN69549;REN69550;REN69551;REN69552;REN69553;REN69554;REN69555;REN69556;REN69557;REN69558;REN69559;REN69560;REN69561;REN69562;REN69563;REN69564;REN69565;REN69566;REN69567;REN69568;REN69569;REN69570;REN69571;REN69572;REN69573;REN69574;REN69575;REN69576;RH71300;stSG601147;stSG601148;stSG601149;stSG601150;stSG601151;stSG601152;stSG601153;stSG601154;stSG601155;stSG601156;stSG601157;stSG601158;stSG601159;stSG601160 RIL LIM domain protein;LIM protein RIL;OTTHUMP00000065964;OTTHUMP00000065965;OTTHUMP00000198263;PDZ and LIM domain protein 4;enigma homolog;reversion-induced LIM protein APPROVED protein-coding ENSG00000131435 HGNC:16501 04571 603422 REVIEWED 731545 PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] 8 8 8 q22.1 91115139 91124357 + 94929083 94938296 + 93916855 93926068 + 1642637;2307428;6480464;7240710;8554872;8699517 15897476;17310282 10931946;11577086;12477932;12676647;1327585;14527413;14702039;15489334;15855260;16188909;16344560;172850;19184109;20208177;20877624;21680880;21906983;24486017;24654937;7566098;7757816;7782287;8396421;8889548;9651365 54704 E5RFL8;E5RHB9;E5RI96;E5RIE5;E5RIV4;Q6P1N1;Q9P0J1 ABBA01037444;AC084346;AF155661;AK022057;AK057079;AK126862;AK302651;AL134195;AMYH02018421;AX249742;BC047619;BC064978;BC098343;BM973633;BQ422289;BX099681;CH471060;DA240240;DA507397;DA769567;DB084539;DC369809;NG_012233;NM_001161779;NM_001161780;NM_001161781;NM_018444;XM_005250986;XM_006716592 AAF67480;AAH47619;AAH64978;AAH98343;BAG51859;BAG54383;BAG63890;CAC88659;EAW91704;EAW91705;EAW91706;NP_001155251;NP_001155252;NP_001155253;NP_060914;Q9P0J1;XP_005251043;XP_006716655 Hs.22265 1645376;1689939;2177324;5115113 D8S1599;SGC30292;SHGC-24323;STS-N47861 FLJ32517;FLJ56179;MGC119646;PDH;PDP;PDP 1;PDPC;PDPC 1;PPM2C OTTHUMP00000226523;OTTHUMP00000226529;OTTHUMP00000226531;[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial;protein phosphatase 2C, magnesium-dependent, catalytic subunit;pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase;pyruvate dehydrogenase phosphatase catalytic subunit 1 APPROVED protein-coding ENSG00000164951 HGNC:9279 16185 605993;608782 REVIEWED 1344700 PDLIM5 PDZ and LIM domain 5 This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 4 4 4 q22 92670285 92886273 + 95373008 95589378 + 94451857 94668227 + 6480464;8554872 10429367;10737800;10833443;11076863;11230166;11256614;12477932;12665800;14743183;15334068;15342556;15346770;15362566;15489334;15489336;15555569;16044170;16189514;16213469;16344560;16381901;16549780;16595163;16713569;17081983;17287082;18021463;18197271;18296710;18456508;18496208;18496210;19328558;19448850;19596686;19636345;19738201;19767753;20564319;20878950;21139048;21266195;21890473;21906983;22118674;22589738;22741436;22863883;22939629;23031404;24064681;24457600;25027693;7698749;8889548;8940095 10611 B7Z481;B7Z8X5;D6RAA1;D6RGG6;F5H7Y0;H0Y8Y3;H0Y929;H0YBI4;Q96HC4 AA253314;AA614664;AA888262;AA922628;AB209531;ABBA01063621;ABBA01063622;ABBA01063623;AC093778;AC108067;AC109925;AF061258;AF116705;AI201986;AK027217;AK129886;AK291624;AK291898;AK296980;AK304125;AL049969;AL832157;AL832686;AL833151;AL833438;AL833439;AMYH02009758;AMYH02009759;AY345240;AY598328;BC008741;BC017902;BC026029;BF954250;BF979604;BM670741;BP260089;BQ049008;BT007328;CH471057;D31139;DA381128;DA895978;NM_001011513;NM_001011515;NM_001011516;NM_001256425;NM_001256426;NM_001256427;NM_001256428;NM_001256429;NM_006457;NR_046186;XM_005262693;XM_005262695;XM_005262696;XM_005262698;XM_006714066;XM_006714067;XM_006714068;XM_006714069;XM_006714070 AAC15767;AAF71125;AAH08741;AAH17902;AAP35992;AAR09142;AAT06739;AAY40898;ABM81612;ABM84794;BAD92768;BAF84313;BAF84587;BAH12467;BAH14111;CAL38184;CAL38272;CAL38362;CAL38497;CAL38688;EAX06053;EAX06054;EAX06055;EAX06056;EAX06057;EAX06058;EAX06059;NP_001011513;NP_001011515;NP_001011516;NP_001243354;NP_001243355;NP_001243356;NP_001243357;NP_001243358;NP_006448;Q96HC4;XP_005262750;XP_005262752;XP_005262753;XP_005262755;XP_006714129;XP_006714130;XP_006714131;XP_006714132;XP_006714133 Hs.480311;Hs.732677 1645871;1651330;1652474;1661112;1683028;1684144;1708636;1712713;1739589;1779016;1852623;2162281;2166951;2169828;2180142;2184230;5015404;5015959;5015961;5022200;5022578;5022651;5037552 D10S2448;D11S2921;D15S1477;D1S1423;D4S1159;D4S2569E;D4S964;D8S2279;D9S1746E;L17705;L18426;RH121053;RH36106;RH91416;RH91857;SHGC-24108;SHGC-59267;SHGC-63474;SHGC-63475;SHGC-67607;SHGC-67609;SHGC-85116;STS-AA009657 ENH;ENH1;L9;LIM OTTHUMP00000161598;OTTHUMP00000219307;OTTHUMP00000219309;OTTHUMP00000219310;OTTHUMP00000227958;PDZ and LIM domain protein 5;enigma homolog;enigma-like LIM domain protein;enigma-like PDZ and LIM domains protein APPROVED protein-coding ENSG00000163110 HGNC:17468 05799 605904 REVIEWED 1603017 PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2 ENCODES a protein that exhibits [pyruvate dehydrogenase (lipoamide)] phosphatase activity (inferred); magnesium-dependent protein serine/threonine phosphatase activity (inferred); metal ion binding (inferred); INVOLVED IN cellular metabolic process (inferred); peptidyl-threonine dephosphorylation (inferred); pyruvate metabolic process (inferred); PARTICIPATES IN pyruvate metabolic pathway; FOUND IN mitochondrial matrix (inferred); mitochondrion (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; ampicillin 16 16 16 q22.1 51422733 51430152 + 66914360 66925004 + 66880457 66891101 + 2307428;6480464 17310282 10718198;11577086;12477932;12676647;15489334;17207965;20208177;20525856;20877624;20972266;21890473;24816145;8889548;9651365 57546 H3BQX2;H3BRB7;H3BSA5;H3BTU5;H3BUJ9;H3BV50;Q9P2J9 AB037769;ABBA01025422;ABBA01025423;AC044802;AK292539;AMYH02032219;BC028030;BU735208;CH471092;NM_020786;XM_005256064;XM_005256065;XM_005256066;XM_005256067;XM_005256068 AAH28030;ADQ32797;BAA92586;BAF85228;EAW83048;NP_065837;Q9P2J9;XP_005256121;XP_005256122;XP_005256123;XP_005256124;XP_005256125 Hs.632214 1775294;2136688;2219480;5015961;5020740;5037552 D15S1477;D8S2279;L17809;PDP2__5850;RH70777;RH78700 KIAA1348;PDP 2;PDPC 2;PPM2C2 OTTHUMP00000174806;[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial;protein phosphatase 2C, magnesium-dependent, catalytic subunit 2;pyruvate dehydrogenase phosphatase catalytic subunit 2;pyruvate dehydrogenase phosphatase isoenzyme 2;pyruvate dehydrogenase phosphatase, catalytic subunit 2 protein-coding ENSG00000172840 HGNC:30263 15112 615499 VALIDATED 1343163 PDK3 pyruvate dehydrogenase kinase, isozyme 3 The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X X X p22.11 28606234 28691468 + 24483344 24568583 + 24465227 24550466 + 1580863;2307427;2307428;6480464;8699517;8554872;7240710 11795479;17310282 10748134;11485553;11486000;11978179;12476789;12477932;12676647;14966024;15226823;15489334;15861126;16849321;17532006;17669420;17683942;18718909;20029029;20186120;20301532;21832049;21890473;22797925;22865452;23297365;24123565;7499431 5165 Q15120 ABBA01072323;ABBA01072324;ABBA01072325;ABBA01072326;ABBA01072327;ABBA01072328;ABBA01072329;ABBA01072330;ABBA01072331;ABBA01072332;ABBA01072333;ABBA01072334;ABBA01072335;AC004552;AC004656;AI001064;AI080664;AK301965;AMYH02039048;AMYH02039049;AMYH02039050;AW173304;BC015948;BC038512;BG717206;BI549903;BU069975;CH471074;HG512466;L42452;NG_016762;NM_001142386;NM_005391 AAC42011;AAH15948;BAG63378;EAW99019;EAW99020;NP_001135858;NP_005382;Q15120 Hs.296031 1341358;1655006;1674061;1703134;1854087;1856334;2125569;2163131;2217724;5022588;5037552;5093706;5109281 A009V19;D1S1425;D5S1597E;D8S2279;DXS7446E;DXS8027;G32876;PDK3_2977;RH16353;RH17655;RH45979;SHGC-34422;SHGC-35685 CMTX6;GS1-358P8.4 OTTHUMP00000023083;OTTHUMP00000226873;[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial;[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 3, mitochondrial;pyruvate dehydrogenase kinase, isoenzyme 3;pyruvate dehydrogenase, lipoamide, kinase isozyme 3, mitochondrial APPROVED protein-coding ENSG00000067992 HGNC:8811 03956 300905;300906 REVIEWED 1345506 PDLIM2 PDZ and LIM domain 2 (mystique) This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 8 8 8 p21.3 21398253 21417218 + 22435805 22455538 + 22578741 22598025 + 6480464;8554872 11214971;12477932;12493773;14702039;15489334;15498874;15505042;15659642;17468759;18029348;19052146;19794962;20185823;20838382;21044950;21139048;21814175;23584482;24196835;8889548 64236 C9J0X3;C9J760;C9JS55;C9JSR2;C9K0F0;F8WFB8;Q96JY6 ABBA01005522;ABBA01005523;ABBA01005524;AC037459;AF289563;AK024498;AK027800;AK055582;AK055782;AK056748;AK074031;AK090432;AK092968;AMYH02017593;AY007729;AY070438;AY217349;BC021556;BC071774;BM674373;BU624103;BU737724;CH471080;DN997519;KF458711;NG_030435;NM_021630;NM_176871;NM_198042 AAG16633;AAH21556;AAH71774;AAL55747;AAL65265;AAO45102;ABM84590;ABW03503;BAB15788;BAB55378;BAB84857;BAC03413;BAG51802;EAW63664;EAW63665;EAW63667;EAW63668;EAW63669;EAW63670;EAW63671;NP_067643;NP_789847;NP_932159;Q96JY6 Hs.632034 1738989;1846651;2113880;2140578;2219476;5022578;5022651;5108775 AB052137;D11S2921;D1S1423;D20S691;D3S1674;PDLIM2__5848;RH16479;SHGC-33970 FLJ34715;SLIM MYSTIQUE;OTTHUMP00000162522;OTTHUMP00000205197;OTTHUMP00000205198;OTTHUMP00000205199;OTTHUMP00000205200;OTTHUMP00000205201;OTTHUMP00000205202;OTTHUMP00000205203;OTTHUMP00000205207;PDZ and LIM domain protein 2;PDZ-LIM protein mystique APPROVED protein-coding ENSG00000120913 HGNC:13992 17831 609722 REVIEWED 9586341 PDPK2P 3-phosphoinositide dependent protein kinase 2, pseudogene 16 16 16 p13.3 2833266 2854097 + 2666121 2693296 - 2616120 2643295 - 653650 ABBA01030247;AC005591;AC141586;AMYH02031262;AMYH02031263;AMYH02031264;AMYH02031265;AMYH02031266;AMYH02031267;AMYH02031268;AMYH02031269;NG_005595 AAC33798 pseudo HGNC:49897 INFERRED 1349394 PDR pigment disorder, reticulate ASSOCIATED WITH Pigmentary Disorder, Reticulate, with Systemic Manifestations (inferred) 7240710 5171 1339686 DXS989 HGNC:8817 301220 1602881 PDPR pyruvate dehydrogenase phosphatase regulatory subunit ENCODES a protein that exhibits aminomethyltransferase activity (inferred); oxidoreductase activity (inferred); INVOLVED IN cellular metabolic process (inferred); glycine catabolic process (inferred); methylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; INTERACTS WITH 2-methylcholine; methyl methanesulfonate; phenobarbital (ortholog) 16 16 16 q22.1 55305783 55318599 + 70147529 70196437 + 70113626 70162534 + 6480464;8554872 12056414;12477932;12676647;14702039;16751776;20808825;20877624;21139048;21145461;21890473;21906983;24816145;9395502 55066 A8MT40;B7ZAR9;H3BQG3;H3BRS5;H3BU60;H3BUH3;H3BV59;Q8NCN5 AB082521;ABBA01058094;ABBA01058095;ABBA01058096;AC009022;AC009060;AK000941;AK024608;AK093391;AK292502;AK302987;AK316384;AL117440;AMYH02032293;BC006246;BC032327;BC090941;BC150251;BX537614;BX538042;BX538153;CR627404;DQ580747;DQ594358;DQ600562;NM_017990;XM_005256015;XM_005256016;XM_005256019;XM_006721224;XM_006721225;XM_006721226;XR_429721 AAI50252;BAA91436;BAC02699;BAF85191;BAG52703;BAG64127;BAH14755;CAH10494;CAH10555;CAH10819;NP_060460;Q8NCN5;XP_005256072;XP_005256073;XP_005256076;XP_006721287;XP_006721288;XP_006721289 Hs.744043 1649765;1680387;1684922;1775244;2127986 RH64930;RH68790;RH99252;SHGC-60565;STS-AA034196 DKFZp686A088;DKFZp686D16130;FLJ10079;PDP3 pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial protein-coding ENSG00000090857 HGNC:30264 17832 VALIDATED 1606573 PDPN podoplanin This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p36.21 12392151 12426304 + 13910252 13944452 + 13583757 13617957 + 2292234;2292235;2292236;2292240;1302251;2292239;2292242;2292375;2292237;2292231;2292241;2292243;2292244;632934;6480464 11790662;11839536;12922978;15849211;16528371;16718353;16736189;16979138;17951198;18165897;18199599;18291512;7864138;9327748 10393083;12477932;14522983;15231832;15489334;15515019;15743802;16169070;16303743;16408168;16574316;16596424;16616332;16710414;17179989;17222411;17284957;17343736;17348451;17377811;17543889;17616532;17951199;18162779;18202409;18212541;18215137;18539139;18541721;18546264;18564921;18650031;18657337;18658274;18707544;18772332;18820665;19146981;19268462;19356249;19363443;19483399;19483629;19550098;19554509;19556810;19630798;19691459;19773378;19925582;20042851;20066519;20146302;20191305;20196862;20200437;20376776;20379614;20393745;20403045;20414092;20482880;20559122;20616339;20628624;20665731;20709739;20716773;20736762;20821344;20850695;20923309;20962267;21034514;21036919;21095001;21185581;21194851;21226415;21234520;21237498;21326813;21385358;21801875;22081310;22175904;22189341;22213642;22257901;22283975;22326634;22350732;22394497;22495364;22556408;22575513;22580922;22588067;22593499;22669451;22682130;22830405;22840788;22844530;22859271;23161183;23246488;23262786;23266472;23291918;23300922;23306662;23349470;23455186;23473850;23518636;23541579;23564785;23790170;23812230;23816822;23817087;23975429;23991201;24023336;24103048;24222607;24293622;24354864;7829101;8012384;8889548;9651190 10630 D6RH07;E7ETC6;H0Y8Q3;H0YA72;Q86YL7 AB127958;ABBA01017216;ABBA01017217;AF030427;AF030428;AF390106;AJ225022;AK075327;AK075345;AK307705;AK307706;AK312607;AL354712;AL357492;AL359771;AMYH02000324;AMYH02000325;AW022996;AY194238;BC014668;BC022812;BE887331;BF340649;BQ212176;BQ214601;CA312590;CD245679;CH471167;NM_001006624;NM_001006625;NM_006474;NM_198389;XM_006710295;Z56464;Z60872 AAD01899;AAD01900;AAH14668;AAH22812;AAM73655;AAO22143;BAC11550;BAC11557;BAD04046;BAG35495;CAA12352;EAW51691;EAW51692;EAW51693;EAW51694;NP_001006625;NP_001006626;NP_006465;NP_938203;Q86YL7;XP_006710358 Hs.468675 1674484;1695594;1767431;1777667;2106683;2134519;2151048;5020395;5037552 D8S2279;HSC1IF012;SHGC-68682;SHGC-74225;SHGC-74231;SHGC-74232;SHGC-74244;T1A-2__5376;WI-14621 GP36;GP40;Gp38;HT1A-1;OTS8;PA2.26;T1-alpha;T1A;T1A-2;T1A2;TI1A;hT1alpha-1;hT1alpha-2 AGGRUS;OTTHUMP00000009639;OTTHUMP00000009640;OTTHUMP00000221492;OTTHUMP00000221493;OTTHUMP00000221495;OTTHUMP00000221496;OTTHUMP00000221498;OTTHUMP00000221499;PA2.26 antigen;glycoprotein 36;glycoprotein, 36-KD;lung type I cell membrane associated glycoprotein;lung type-I cell membrane-associated glycoprotein (T1A-2) APPROVED protein-coding ENSG00000162493 HGNC:29602 16398 608863 REVIEWED 1349373 PDRG1 p53 and DNA-damage regulated 1 ENCODES a protein that exhibits unfolded protein binding (inferred); INVOLVED IN protein folding (inferred); FOUND IN cytoplasm (inferred); prefoldin complex (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; crocidolite asbestos 20 20 20 q11.21 27289114 27296239 - 30532758 30556513 - 31944955 31968710 - 6480464 11780052;12477932;14562055;14676191;14743216;15489334;17643375;19450687;21139048;21193842;21360678;21906983;21963094;22053931;22939629;24250222;24816145;25036637;8889548 81572 Q9NUG6 ABBA01019287;AK312021;AL031658;AMYH02036910;AY286301;BC001856;BC009334;BM679702;CH471077;NM_030815;XM_005260563 AAH01856;AAH09334;AAP45329;BAG34958;EAW76399;EAW76400;NP_110442;Q9NUG6;XP_005260620 Hs.435755 2154128;2186772 WI-13573;Z94502 C20orf126;PDRG OTTHUMP00000030569;p53 and DNA damage regulated 1;p53 and DNA damage-regulated protein 1 protein-coding HGNC:16119 17833 610789 VALIDATED 8548172 PDSS1P1 prenyl (decaprenyl) diphosphate synthase, subunit 1 pseudogene 1 9 9 9 p24.1 5010315 5011891 - 5084690 5086266 - 5084690 5086266 - 100129248 ABBA01065417;AL161450;AMYH02019083;NG_009904;NG_017146 pseudo HGNC:49740 INFERRED 1606830 PDLIM7 PDZ and LIM domain 7 (enigma) The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 171577128 171591311 + 176910395 176924606 - 177483394 177497605 - 6480464 10359609;10704826;11874232;12176011;12477932;14702039;15231747;15231748;15489334;15635413;15946664;16189514;16382137;16446357;16611643;16713569;16803868;17126496;17510966;17805464;18029348;18215669;18395833;18412141;18618069;18989571;19269113;19379743;20348040;20360068;20636447;20732415;21060154;21061915;21139048;21150319;21864338;21987572;21988832;22241179;22417000;22939629;23000965;23088713;23097599;23824909;24078030;24140708;24255178;24466333;24722188;25036637;7929196;8940095;9528800 9260 D6RAN1;D6RF83;D6RH06;H0Y8W6;H7BYK4;Q9NR12 ABBA01033453;ABBA01033454;AC145098;AF265209;AF345904;AF345905;AF345906;AK096826;AMYH02012838;AMYH02012839;BC001093;BC007648;BC014521;BC067806;BC084575;BG714861;BG772677;BU956109;CB993539;CH471195;HY026171;L35240;NM_005451;NM_203352;NM_213636;NR_103804;XM_006714937;XM_006714938;XM_006714939;XM_006714940;XM_006714941 AAC37565;AAF76152;AAH01093;AAH14521;AAH84575;AAK30567;AAK30568;AAK30569;ABM83061;ABM86255;EAW84985;EAW84986;EAW84987;EAW84988;NP_005442;NP_976227;NP_998801;Q9NR12;XP_006715000;XP_006715001;XP_006715002;XP_006715003;XP_006715004 Hs.533040;Hs.736984 1689556;1746725;1765475;1791079;2110639;2119373 AV007930;PDLIM7_8917;RH65364;RH80795;SHGC-148959;STS_03 LMP;LMP1;LMP3 1110003B01Rik;LIM domain protein;LIM mineralization protein;Lim mineralization protein 3;OTTHUMP00000161442;OTTHUMP00000161444;OTTHUMP00000161445;OTTHUMP00000180646;OTTHUMP00000223829;OTTHUMP00000223831;OTTHUMP00000223833;PDZ and LIM domain protein 7;protein enigma APPROVED protein-coding ENSG00000196923 HGNC:22958 10436 605903 REVIEWED 8548210 PDSS1P2 prenyl (decaprenyl) diphosphate synthase, subunit 1 pseudogene 2 2 44370174 44396926 + 100996500 ABBA01075100 pseudo HGNC:49741 MODEL 1354063 PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1 The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008] 10 10 10 p12.1 26698509 26744104 + 26986353 27035727 + 26697424 26746798 + 6480464;6907045;8699517;7240710;8554872 10972372;12477932;15164054;15489334;16262699;17332895;18636124;18976975;20010493;20010505;20051244;20201926;20301317;20379614;20877624;21890473;7752843;8119922;8125298;8226825 23590 H0YEE6;Q5T2R2 AB209763;AB210838;ABBA01034412;ABBA01034413;AF118395;AK024802;AK223414;AK296288;AL390961;AMYH02022499;AMYH02022500;BC049211;BC063635;CH471072;KF455218;NG_008972;NM_014317;XM_005252439;XR_428636 AAD28559;AAH49211;AAH63635;BAD93000;BAD97134;BAE48216;BAG58993;EAW86084;EAW86085;NP_055132;Q5T2R2;XP_005252496 Hs.558468 1645274;1787588;2135892;5022327 D11S1134;RH41873;SHGC-155915;SHGC-58149 COQ1;COQ10D2;DPS;MGC70953;RP13-16H11.3;SPS;TPRT;TPT;TPT 1;hDPS1 OTTHUMP00000019346;all-trans-decaprenyl-diphosphate synthase subunit 1;coenzyme Q1 homolog;decaprenyl pyrophosphate synthase subunit 1;decaprenyl-diphosphate synthase subunit 1;polyprenyl pyrophosphate synthetase;subunit 1 of decaprenyl diphosphate synthase;trans-prenyltransferase;trans-prenyltransferase (TPT);trans-prenyltransferase 1 APPROVED protein-coding ENSG00000148459 HGNC:17759 09591 607429;614651 REVIEWED 1353926 PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009] 6 6 6 q21 108222204 108529221 - 107473761 107780779 - 107152557 107459575 - 6480464;6907045;8699517;7240710;8554872 12477932;14574404;15489334;16262699;17855635;18029348;18978678;19209031;19322201;19913121;20051244;20301317;20507940;20628086;20877624;21832049;23312889;23382691;23926186;8125298 57107 B4DKU5;B4DWD3;Q5JRD6;Q86YH6 AB210839;ABBA01026171;ABBA01026172;ABBA01026173;ABBA01026174;ABBA01026175;ABBA01026176;ABBA01026177;ABBA01026178;ABBA01026179;AF086233;AF254956;AJ420575;AK225629;AK296717;AK301480;AK315804;AL121957;AL355586;AL590489;AL591516;AL832290;AMYH02014253;AMYH02014254;AMYH02014255;AMYH02014256;AMYH02014257;AMYH02014258;BC029491;BC039906;CH471051;DC341808;NG_013033;NM_020381 AAF97788;AAH29491;AAH39906;BAE48217;BAG38145;BAG59307;BAG62995;EAW48400;NP_065114;Q86YH6 Hs.745008 1337015;1703860;1704434;1714907;1758801;1855487;2119517;2128741;2143103;2169964;2170951;2174899;5037552;7186481 D12S831;D6S268;D8S2279;RH120448;RH18501;RH46600;RH68598;SHGC-151042;SHGC-79152;SHGC-82919;STS-AA034318;WI-18045;WI-22040 C6orf210;COQ10D3;DLP1;bA59I9.3;hDLP1 OTTHUMP00000065664;all-trans-decaprenyl-diphosphate synthase subunit 2;decaprenyl pyrophosphate synthase subunit 2;decaprenyl pyrophosphate synthetase subunit 2;decaprenyl-diphosphate synthase subunit 2;subunit 2 of decaprenyl diphosphate synthase APPROVED protein-coding ENSG00000164494 HGNC:23041 12879 610564;614652 REVIEWED 1604045 PDS5A PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 4 4 4 p14 40262836 40418746 - 39824483 39979576 - 39822863 39977956 - 6480464;8554872 11076961;11590136;12477932;14702039;15019998;15837422;15855230;16159877;16682347;17112726;17113138;17349791;17353931;17846787;18029348;19454010;19906707;19907496;20359100;20360068;21069257;21111234;21139048;21252943;21697133;21865657;21890473;21900206;21903422;21906983;22145905;22505724;22586326;22751105;22751501;22939629;23000965;23022380;23314748;24332808;24457600;24816145;9734811 23244 G1UI16;H0Y9L6;H0Y9L9;H0Y9X6;Q29RF7 AB014548;AB621803;ABBA01004144;ABBA01004145;ABBA01004146;ABBA01004147;ABBA01004148;ABBA01004149;ABBA01004150;AC098591;AC105287;AC113150;AF294791;AK001828;AK021757;AK023592;AK098331;AK124569;AMYH02009059;AMYH02009060;AMYH02009061;AMYH02009062;AMYH02009063;AMYH02009064;AY550968;BC009650;BC041361;BC114218;BC126225;BC144088;CA412233;CH471069;CR749425;JC339561;NG_021172;NM_001100399;NM_001100400;XM_005262652 AAH09650;AAH41361;AAI14219;AAI26226;AAM82347;AAT52214;ACE86943;ACE86955;ACE87631;ACE87646;ADR82739;BAA31623;BAC05286;BAG51044;BAK64139;CAH18263;CDM63448;EAW92952;EAW92953;EAW92954;EAW92955;NP_001093869;NP_001093870;Q29RF7;XP_005262709 Hs.331431 1652495;1658137;1672939;1711466;1788744;1855997;1856092;2109807;2120392;2140374;2175458;2185799;5037552 D4S251;D8S2279;G49189;RH128590;RH71247;SCC-_112_9325;SHGC-37404;SHGC-50461;SHGC-59611;STS-H01326;STS-R02821;STS-T91868;WI-15044 DKFZp686B19246;FLJ41012;KIAA0648;MGC131948;MGC161503;PIG54;SCC-112;SCC112 OTTHUMP00000218540;OTTHUMP00000218541;cell proliferation-inducing gene 54 protein;sister chromatid cohesion protein 112;sister chromatid cohesion protein PDS5 homolog A APPROVED protein-coding ENSG00000121892 HGNC:29088 11537 613200 REVIEWED 6480380 PDX1-AS1 PDX1 antisense RNA 1 13 q12.2 27829759 27921404 - 18951430;22581228 100861550 ABBA01035737;ABBA01035738;ABBA01035739;ABBA01035740;ABBA01035741;AL353195;AL390738;AMYH02027760;AW340746;BX370281;HG505481;NR_047484 Hs.416201 RP11-438F9.2 APPROVED ncrna HGNC:43698 VALIDATED 732664 PDPK1 3-phosphoinositide dependent protein kinase 1 ENCODES a protein that exhibits 3-phosphoinositide-dependent protein kinase activity; kinase activity; phospholipase activator activity; INVOLVED IN activation of protein kinase B activity; calcium-mediated signaling; cell migration; PARTICIPATES IN FasL mediated signaling pathway; fibroblast growth factor signaling pathway; insulin signaling pathway; FOUND IN cell projection; cytoplasm; plasma membrane; INTERACTS WITH 17beta-estradiol; 2-methylcholine; amiloride 16 16 16 p13.3 1620 5581 + 2587965 2653191 + 2537964 2603190 + 729514;1581775;1580863;1581774;2290458;5131489;6480464;6484113;6907045 14585963;16314505;17641274;19934406;9445477 10191262;10226025;10357815;10364160;10455013;10480933;10485710;10548550;10567711;10601311;10698680;10698939;10753910;10764742;10792047;10856237;10896934;10945988;10995762;11062054;11157489;11222751;11278835;11313365;11376011;11381116;11438723;11445557;11481331;11715018;11733037;11779851;11781095;11825911;11877406;11889038;12048203;12138205;12147684;12149249;12162751;12167717;12169624;12177059;12223477;12244303;12374740;12387817;12477932;12485998;12524439;12640464;12912918;14500673;14604990;14702039;14749367;15059930;15122200;15125833;15144186;15209375;15210700;15302935;15489334;15541657;15718470;15741170;15743829;15802604;15802620;16169070;16207722;16251192;16288304;16551362;16737971;16751776;16807684;17047224;17081983;17136479;17255356;17314099;17327236;17371830;17468049;17826953;17848913;17916563;18003900;18024423;18184863;18204440;18439422;18495460;18616680;18660489;19010391;19146951;19167335;19276999;19405949;19591923;19602588;19910471;19920149;20044479;20133737;20186503;20197379;20361045;20385558;20562859;20643654;20978239;21034549;21035469;21118801;21139048;21310824;21419810;21533613;21568903;21697490;21775285;21832049;21875479;21890473;21900206;21908616;21930711;22119465;22347420;22398726;22454520;22490666;22569334;22658458;22863784;22952425;23098536;23131847;23453624;23530144;23562764;23602568;8125298;9094314;9271440;9368760;9373175;9374542;9381178;9427642;9430688;9445476;9512493;9637919;9748166;9768361;9812896;9895304 5170 E9PER6;H3BNV5;H3BPR5;H3BPW1;H3BQ10;H3BQA3;O15530;Q6A1A2 AB209835;ABBA01030247;ABBA01030248;AC005591;AC093525;AC141586;AF017995;AF111845;AJ406809;AJ785968;AK095507;AK131060;AK222581;AK293900;AL157446;AMYH02031255;AMYH02031256;AMYH02031257;AMYH02031258;AMYH02031259;AMYH02031260;BC000789;BC006339;BC012103;BC012540;BC033494;BC040324;BI830733;CH471112;CR536517;NM_001261816;NM_002613;NM_031268;XM_005255356;Y15056 AAC33797;AAC51825;AAF16685;AAH06339;AAH12103;AAH33494;ABM83223;ABM86422;ACE87795;ACT64575;BAD93072;BAD96301;BAG57287;CAA75341;CAC10873;CAG38755;CAH05056;EAW85495;NP_001248745;NP_002604;NP_112558;O15530;Q6A1A2;XP_005255413 Hs.459691 1654962;1700738;1730119;1740955;1756839;1770170;2110641;2152223;2157110 D16S426E;GDB:176413;PDPK1_7852;RH103994;RH47915;RH69648;RH78462;SHGC-143995;SHGC-61166 MGC20087;MGC35290;PDK1;PDPK2;PRO0461;PkB-like 1;hPDK1 3-phosphoinositide dependent protein kinase-1;3-phosphoinositide-dependent protein kinase 1;OTTHUMP00000159109;OTTHUMP00000159110;OTTHUMP00000174525;PkB kinase like gene 1;protein kinase APPROVED protein-coding ENSG00000140992 HGNC:8816 05556 605213 VALIDATED 1351799 PDXP pyridoxal (pyridoxine, vitamin B6) phosphatase Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves the dephosphorylation of PLP by PDXP (Jang et al., 2003 [PubMed 14522954]).[supplied by OMIM, Mar 2008] 22 22 22 q12.3 21856602 21864785 + 38054737 38062939 + 37658730 37666932 + 737633;6480464;6907045 12477932 10591208;14522954;14702039;15489334;15580268;16336786;17500066;18029348;18510874;19000834;21139048;21897333;22939629;23223568;8132548 57026 B1AHD3;Q96GD0 ABBA01055480;AK057265;AMYH02038339;AY125047;BC000320;BC009756;BC012832;BC018844;BC064922;CH471095;NM_020315;Z83844 AAH00320;AAH09756;AAH64922;AAM94358;EAW60176;EAW60177;NP_064711;Q96GD0 Hs.632762 1681839;1773135 RH67;WI-19614 CIN;FLJ32703;PLP;dJ37E16.5 OTTHUMP00000042130;PLP phosphatase;chronophin;pyridoxal phosphate phosphatase APPROVED protein-coding ENSG00000241360 HGNC:30259 609246 VALIDATED 1352351 PDXK pyridoxal (pyridoxine, vitamin B6) kinase The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30244819 30287780 + 45138978 45182188 + 43719097 43762307 + 724656;1580863;2303021;6480464;6907045 3225873;9099727 10024608;10830953;10930737;10987144;12477932;14702039;15082224;15154080;15161933;15489334;16021519;16344560;16600635;16704963;16780588;17623298;17766369;18029348;18781797;19056867;19086053;19322201;19351586;20035503;2009;20373357;20639122;21139048;21145461;21697133;21890473;21906983;21963094;22647618;22990118;23000965;24654937;24816145;6088736;8125298;8510562;9252787;9354586 8566 A8MT14;A8MV33;F2Z2Y4;O00764;V9HWC3 AB621819;ABBA01074133;ABBA01074134;ABBA01074135;ABBA01074136;ABBA01074137;AI131245;AI652877;AK024977;AK027018;AK056502;AK094630;AK225206;AL109793;AL110184;AL122067;AL137632;AL161960;AL355712;AL355713;AMYH02037898;AMYH02037899;AP001052;AP001053;AP001752;AW245602;AW245860;AY303972;BC000123;BC003651;BC005825;BC008008;BC021550;BC041020;BC063541;BE671761;BI871733;BQ653540;BU192292;CB989301;CH471079;CX867421;DA116202;DA398180;DA736443;DA772127;DB010203;EU794642;HH961854;JB248650;JB391759;KF457331;NM_003681;U89606;XM_005261195;XM_005261196;XM_005261198;XM_005261199 AAC51233;AAH00123;AAH05825;AAH08008;AAH21550;AAH41020;AAP73047;ACJ13696;BAA95540;BAB15048;BAK64155;CBX51400;CDH61624;CDH93590;EAX09475;EAX09477;NP_003672;O00764;XP_005261252;XP_005261253;XP_005261255;XP_005261256 Hs.284491 1646307;1653252;1653847;1713217;1713693;1722275;1750323;1766439;1790607;1848065;1848916;2109637;2116331;2119726;2148945;2151021;2155443;2160455;2175935;5014019;5023384 D21S1859;D21S1868;D21S1981;D5S2354;G34624;G60049;PDXK_8833;RH120396;RH120729;RH35999;RH36279;RH66292;SHGC-112512;SHGC-149770;SHGC-51899;SHGC-52026;SHGC-87677;SHGC-87681;STS_CEB242;T03311;WIAF-2214 C21orf124;C21orf97;DKFZp566A071;FLJ31940;FLJ37311;HEL-S-1a;MGC15873;MGC31754;MGC52346;PKH;PNK;PRED79 OTTHUMP00000109453;OTTHUMP00000109454;OTTHUMP00000109455;OTTHUMP00000109456;epididymis secretory sperm binding protein Li 1a;pyridoxal kinase;pyridoxamine kinase;pyridoxine kinase;vitamin B6 kinase APPROVED protein-coding ENSG00000160209 HGNC:8819 01526 179020 REVIEWED 1605550 PDXDC2P pyridoxal-dependent decarboxylase domain containing 2, pseudogene ENCODES a protein that exhibits carboxy-lyase activity (inferred); pyridoxal phosphate binding (inferred); INVOLVED IN carboxylic acid metabolic process (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; 17alpha-ethynylestradiol (ortholog) 16 16 16 q22.1 54525491 54615073 - 70010200 70099851 - 69976297 70065948 - 6480464 12477932;17266347;21906983 283970 Q6P474 ABBA01000839;ABBA01000840;ABBA01000841;ABBA01000842;ABBA01000843;AC009022;AC026468;AK292860;AL833251;AMYH02032292;BC063633;KF175207;KF175220;KF175221;NR_003610 AHY28914;BAF85549;Q6P474 Hs.513695 1677518;1746309;1848330;2117049;2161899;2180868;5124491 Cda0uf06;D16S3348;G17898;G64584;RH91383;SHGC-60186;SHGC-60187 FLJ23482;NPIP;PDXDC2 APPROVED pseudo ENSG00000196696 HGNC:27559 PROVISIONAL 1343954 PDYN prodynorphin The protein encoded by this gene is a preproprotein that is proteolytically processed to form the secreted opioid peptides beta-neoendorphin, dynorphin, leu-enkephalin, rimorphin, and leumorphin. These peptides are ligands for the kappa-type of opioid receptor. Dynorphin is involved in modulating responses to several psychoactive substances, including cocaine. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010] 20 20 20 p13 2023375 2038860 - 1959402 1974931 - 1978756 1994285 - 1580863;6480464;7240710;8554872;8699517 10646497;10871647;11780052;11803449;11835385;11992566;12207142;12477932;12590613;12644935;14552886;15301734;15306549;15489334;15894804;16184603;16274263;16314761;16344560;16529859;16892066;16914231;16924269;17559549;18184800;18240029;18334734;18355961;18923396;19066720;19086053;19094085;19183129;19219857;19298317;19437412;19468819;19474285;19486061;1978246;19820697;19874574;19948975;20301317;20376782;20731629;20734064;20808262;21035104;21223598;21338584;21382455;21521424;21712028;21736916;21832049;22243190;22443215;22468884;22542470;22730276;22764240;22768096;22985506;23101464;23108490;23152558;23355175;23392455;23471613;24223163;24231353;24405578;2893547;6281660;6316163;7759618;7905839;8208289;9047294 5173 P01213;Q2YEM6 ABBA01053785;AK289618;AK316076;AL034562;AMYH02036574;AY902648;AY902649;AY902650;AY902651;AY902664;AY902665;AY902666;AY902667;BC026334;CH471133;DA157767;DA167762;DA178888;DA297229;DA302375;DA305883;NG_028027;NM_001190892;NM_001190898;NM_001190899;NM_001190900;NM_024411;X00176;X02536 AAH26334;AAY53973;AAY53974;AAY53975;AAY53976;AAY53989;AAY53990;AAY53991;AAY53992;ADZ15893;BAF82307;BAH14447;CAA24999;EAX10604;NP_001177821;NP_001177827;NP_001177828;NP_001177829;NP_077722;P01213 Hs.22584 1665807;1777486;2118565;2132813;2163564;2217726 CHLC.GAAT4E12;D20S1072;G10505;PDYN_1717;SHGC-30305;STS-K02268 ADCA;MGC26418;PENKB;SCA23 OTTHUMP00000030002;beta-neoendorphin;beta-neoendorphin-dynorphin;dynorphin;leu-enkephalin;leumorphin;neoendorphin-dynorphin-enkephalin prepropeptide;preprodynorphin;preproenkephalin B;proenkephalin-B;rimorphin APPROVED protein-coding ENSG00000101327 HGNC:8820 08838 131340;610245 REVIEWED 1604634 PDXDC1 pyridoxal-dependent decarboxylase domain containing 1 ENCODES a protein that exhibits carboxy-lyase activity (inferred); pyridoxal phosphate binding (inferred); INVOLVED IN carboxylic acid metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Golgi apparatus; intracellular membrane-bounded organelle; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; arsenous acid; copper(2+) sulfate 16 16 16 p13.11 16208460 16214455 - 15068448 15131552 + 14974591 15139410 + 6480464;8554872 11591653;12477932;14702039;16344560;17266347;17353931;20189936;21139048;21829377;21886157;21906983;21963094;21987572;22286219;22359512;22504420;22863883;22939629;23383273;24097068;24250222;24457600;24816145;9039502 23042 B4DHL7;H3BM88;H3BND4;H3BNL6;H3BPV5;H3BQ54;H3BQS3;H3BU11;J3KNK7;Q6P996;Q6XYB5;Q86XE2 ABBA01012611;ABBA01030274;AC138932;AC139256;AC245049;AK025504;AK090552;AK295168;AK299111;AK299799;AY203955;BC025366;BC033748;BC036520;BC042104;BC045554;BC053946;BC060871;BM997114;BX647809;BX648066;CA423507;CD370048;CH471301;D87438;DA321929;DA775396;DB019664;DQ111782;H18469;HY036748;NM_001285444;NM_001285445;NM_001285447;NM_001285448;NM_001285449;NM_001285450;NM_015027;XM_005255173;XM_005255174;XM_005255176;XM_006720865;XM_006720866 AAH25366;AAH33748;AAH36520;AAH42104;AAH45554;AAH60871;AAP34478;AAZ14099;BAA19780;BAG58179;BAG61167;BAG61675;EAW54748;NP_001272373;NP_001272374;NP_001272376;NP_001272377;NP_001272378;NP_001272379;NP_055842;Q6P996;XP_005255230;XP_005255231;XP_005255233;XP_006720928;XP_006720929 Hs.370781 1646631;1646633;1675100;1677518;1715075;1722221;1736614;1746309;1848330;2117049;2134984;2146477;2161899;2165560;2176789;2180868;5022200;5022588;5037742 A001Y19;D16S2604E;D16S3348;D1S3692;D5S1597E;G17898;G19780;G60015;G64584;L18426;RH119489;RH91383;SHGC-31845;SHGC-32783;SHGC-60186;SHGC-60187;SHGC-60684;SHGC-61155;WIAF-1614 KIAA0251;LP8165 OTTHUMP00000232564;pyridoxal-dependent decarboxylase domain-containing protein 1 protein-coding ENSG00000179889 HGNC:28995 13789 614244 VALIDATED 736367 PDX1 pancreatic and duodenal homeobox 1 The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (NIDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Jul 2008] 13 13 13 q12.1 9568879 9575162 + 28494168 28500451 + 27920031 27926314 + 1580863;2311214;2311215;2311219;2311232;2311204;2311213;2311218;2311205;2308899;2311233;2311308;2311305;2311307;2311309;2308812;2311206;2311207;2311217;2311226;2311227;1357906;2311170;1600277;2311220;2311221;2311222;2311225;2311224;2311168;2311228;2311229;2311173;2311231;2311306;2311311;1625044;2311230;2311223;2311310;6480464;6484113;6907045;7240710;8554872;8699517 10512364;10545531;11090239;12210084;12438314;12606515;14988244;15170499;15561947;15734849;15979049;16046294;16337165;16983179;17003479;17131142;17192469;17200876;17226789;17235568;17383157;17460716;17641871;17673521;17690043;17761790;17764693;17893880;17991758;18253862;18288891;18374094;18464933;18506375;18682608;19245309;19371350;9075799;9637677 10545530;10636926;10751390;11022198;11076863;11270685;11279116;11772903;11834421;12052878;12124776;12477932;12783165;12947327;12970316;12972592;14631368;14764823;14968112;15028719;15047618;15107297;15121856;15277425;15300214;15664999;15665000;15754742;15839736;15896300;15993959;16092045;16141209;16166097;16229747;16390394;16405074;16407209;16675598;16741735;16873704;16874866;16894468;16936193;17003361;17126328;17143557;17327436;17583748;17592437;17705277;17761145;17941991;17957487;18060872;18218622;18361919;18477649;18508668;18522939;18593849;18665085;18671802;18718916;18754095;18754323;18811724;18855980;18951430;19056482;19056911;19077462;19208834;19228875;19277121;19515026;19578796;19755420;19833727;19843526;19910415;19913121;20009086;20036830;20301620;20353756;20381624;20416077;20467340;20467438;20621032;20622005;20628086;20668890;20682687;20811152;20962579;21108535;21228366;21278380;21393239;21612404;21652712;21739268;21909647;21986529;22322596;22570331;22581228;22594685;22640736;22761608;22905092;23320570;23331010;23696946;23775130;23796517;23853095;23863625;23950697;24464100;7505393;7590740;8635654;8923459;8954967;8986763;8988180;9111329;9115263;9252422 3651 P52945 ABBA01035737;AF035260;AF049893;AL353195;AMYH02027760;CA771381;CA848737;CH471075;NG_008183;NM_000209;S82178;U30329;U35632;X99894 AAA74012;AAA88820;AAB47101;AAB88463;AAC05157;AAI11593;CAA68169;EAX08420;NP_000200;P52945 Hs.32938 1648750;2135138 G05158;RH79140 GSF;IDX-1;IPF-1;IPF1;IUF-1;IUF1;MODY4;PAGEN1;PDX-1;STF-1 OTTHUMP00000018174;glucose-sensitive factor;insulin promoter factor 1, homeodomain transcription factor;insulin upstream factor 1;islet/duodenum homeobox-1;pancreas/duodenum homeobox protein 1;pancreatic and duodenal homeobox gene 1;pancreatic-duodenal homeobox factor 1;somatostatin transcription factor 1;somatostatin-transactivating factor 1 2289644;2289645;2314787 BW509_H;BW511_H;GLUCO113_H APPROVED protein-coding ENSG00000139515 HGNC:6107 02843 245349;600733 REVIEWED 1321969 PDS5B PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) This gene encodes a protein that interacts with the conserved protein complex termed cohesion. The cohesion complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, May 2010] 13 13 13 q12.3 14227385 14418972 + 33160564 33352158 + 32586427 32778020 + 6480464;8554872 10215036;10231032;10963680;11111111;12072405;12477932;15302935;15345747;15489334;15837422;15855230;16344560;16682347;16710414;17112726;17113138;17349791;18029348;18499069;19412548;19454010;19460752;19596686;19737411;20360068;20383194;21111234;21116278;21139048;21832049;21890473;21906983;22145905;22293751;22586326;22751501;22939629;23000965;23563607;23850494;24457600;24816145;8812419 23047 A9IYQ1;Q9NTI5 AB023196;ABBA01010148;ABBA01010149;ABBA01010150;AK026889;AK128502;AK299340;AL137201;AL138820;AMYH02027826;AMYH02027827;AMYH02027828;AMYH02027829;AMYH02027830;BC026240;BC039256;BC070274;BP398054;CH471075;DA856411;DB456240;KF510402;NG_021308;NM_015032;U50533;U95825;XM_005266295;XM_005266296;XM_005266297;XM_005266298;Z75889;Z84467;Z84572 AAD22134;AAH39256;AAH70274;AAI72246;ADZ15436;BAA76823;BAB15584;BAH13007;CAB69911;CAI10806;EAX08520;NP_055847;Q9NTI5;XP_005266352;XP_005266353;XP_005266354;XP_005266355 Hs.744901 1341263;1657424;1675475;2113340;2113344;2113406;2113498;2114828;2119155;2168239;2179008;5020274 AFM255ze9;CC509562;D13S171;D13S1731;D13S1733;D13S1767;L18441;RH44714;RH48243;RH66160;RH69699;WI-18387 AS3;CG008;FLJ23236;KIAA0979;RP1-267P19.1 APRIN;OTTHUMP00000018232;OTTHUMP00000197491;androgen induced inhibitor of proliferation;androgen-induced proliferation inhibitor;androgen-induced prostate proliferative shutoff-associated protein AS3;androgen-induced shutoff 3;sister chromatid cohesion protein PDS5 homolog B APPROVED protein-coding ENSG00000083642 HGNC:20418 05624 605333 REVIEWED 735643 PDZD2 PDZ domain containing 2 Proteins containing PDZ domains have been shown frequently to bind the C-termini of transmembrane receptors or ion channels. They have also been shown to bind to other PDZ domain proteins and could possibly be involved in intracellular signalling. The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Jul 2008] 5 5 5 p13.3 31679264 31992328 + 31639345 32111038 + 31639377 32110932 + 1580863;6480464;8554872 10896674;11289102;12370826;12421765;12477932;12671685;14702039;16413998;1731767;18037333;18639375;19046020;20237496;20379614;21061259;21150319;21451436;22145905;23184150;23251661;23782696;24322204;8889548;9205841 23037 D6RF66;O15018 AB002298;ABBA01066722;ABBA01066723;ABBA01066724;ABBA01066725;ABBA01066726;ABBA01066727;ABBA01066728;AC010449;AC010469;AC022447;AC025178;AC025458;AF338650;AK021922;AK091490;AK128686;AK294741;AK304804;AK309794;AMYH02011115;AMYH02011116;AMYH02011117;AMYH02011118;AMYH02011119;AMYH02011120;AMYH02011121;AMYH02011122;BC032023;BC057283;BX648242;CA503068;CH471118;KF457881;KF510920;NG_033962;NM_178140;XM_005248269;XM_005248270;XM_005248271;XM_005248272;XM_006714456;XM_006714457;XM_006714458;XM_006714459;XM_006714460 AAI72231;AAK07661;BAA20760;BAC87571;BAG57884;BAG65554;EAX10775;EAX10778;NP_835260;O15018;XP_005248326;XP_005248327;XP_005248328;XP_005248329;XP_006714519;XP_006714520;XP_006714521;XP_006714522;XP_006714523 Hs.481819 1341804;1342253;1766383;1770196;1772708;1774648;1775993;1851115;2117060;2125753;2134302;2149496;2153386;2185865;5015619;5016781;5017028;5022576;5022578;5037552;7187518 A004I48;D11S3114;D1S1361;D1S1423;D5S1884;D5S477;D6S1584;D6S2768;D8S2279;G35319;RH16274;RH18387;RH44721;RH46366;RH65126;SGC33738;SGC34914;SHGC-149728;SHGC-67307;STS-W61113 AIPC;KIAA0300;PDZK3;PIN1 OTTHUMP00000220935;PDZ domain containing 3;PDZ domain-containing protein 2;PDZ domain-containing protein 3;activated in prostate cancer protein;papin;plakophilin-related armadillo repeat protein-interacting PDZ protein-like APPROVED protein-coding ENSG00000133401 HGNC:18486 10142 610697 REVIEWED 1320465 PDZD7 PDZ domain containing 7 This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 10 10 10 q24.31 96514823 96528615 - 102767440 102790914 - 101007683 101031157 - 737633;1580863;6480464;7240710;8699517;8554872 12477932 14702039;15164054;15489334;16344560;19028668;20301515;20440071;23055499;24618850;8125298 79955 H0Y7G1;Q9H5P4;S4R3J9;S4R3X4 ABBA01063209;AK024422;AK026862;AK225136;AL133215;AMYH02023664;AMYH02023665;BC029054;CH471066;DA197280;FJ617449;NG_028030;NM_001195263;NM_024895;XM_005270165;XM_006717975 AAH29054;ACU45386;BAB15577;BAB15712;EAW49788;NP_001182192;NP_079171;Q9H5P4;XP_005270222;XP_006718038 Hs.438245 5015619;5037552 D11S3114;D8S2279 PDZK7 OTTHUMP00000020294;PDZ domain-containing protein 7 APPROVED protein-coding ENSG00000186862 HGNC:26257 15114 276901;605472;612971 REVIEWED 1343770 PDZD4 PDZ domain containing 4 FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4',5-pentachlorobiphenyl (ortholog); andrographolide (ortholog) X X X q28 153301304 153329683 - 153067621 153096022 - 153802168 153830548 - 6480464 10819331;12477932;14702039;15077175;15138636;15489334;16713569;21832049;8661155 57595 B3KVR9;D3DWW0;Q17RL8;Q76G19;V9GYN6 AB040877;AB103478;ABBA01045352;ABBA01045353;ABBA01045354;ABBA01045355;ABBA01045356;AF085862;AK091444;AK123229;AK123822;AK127016;AK309212;AMYH02040844;AX405979;BC002606;BC008599;BC020347;BC080584;BC117277;BC143459;BC143542;BC143545;CH471172;KF459511;NM_032512;U52111 AAH02606;AAH80584;AAI17278;AAI43460;AAI43546;ADR83394;BAA95968;BAC03666;BAD16631;BAG53881;BAG53965;BAG54423;CAD35086;EAW72791;EAW72795;EAW72805;NP_115901;Q76G19 Hs.92732 FLJ34125;KIAA1444;LU1;PDZK4;PDZRN4L OTTHUMP00000025950;PDZ domain-containing RING finger protein 4-like protein;PDZ domain-containing protein 4 protein-coding ENSG00000067840 HGNC:21167 06601 300634 PROVISIONAL 1318503 PDZD8 PDZ domain containing 8 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN cytoskeleton organization; regulation of cell morphogenesis; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; copper(2+) sulfate 10 10 10 q26.12 112772703 112865000 - 119029936 119134951 - 117270425 117375440 - 737633;1580863;6480464;8554872 12477932 12601173;14702039;15164054;15489334;16385451;17081983;19322201;19946888;20573829;21549406;21890473;21906983;22683750;22990118;23000965;24554657 118987 Q8NEN9 ABBA01062941;ABBA01062942;ABBA01062943;ABBA01062944;ABBA01062945;ABBA01062946;AK058141;AK091746;AL122051;AL359836;AL391988;AMYH02023882;AMYH02023883;AMYH02023884;AY211924;AY211929;BC012186;BC028375;BC033019;CH471066;NM_173791;XM_005269518;XR_246069 AAH28375;AAO65177;AAO65182;ADZ16047;CAB59184;EAW49427;NP_776152;Q8NEN9;XP_005269575 Hs.501149 1336760;1646013;1653174;1657909;5093738;7186825 A009V43;D10S221;G32894;STS-H92741;WI-13732 FLJ25412;FLJ34427;PDZK8;bA129M16.2 OTTHUMP00000020577;PDZ domain-containing protein 8;sarcoma antigen NY-SAR-104;sarcoma antigen NY-SAR-84;sarcoma antigen NY-SAR-84/NY-SAR-104 protein-coding HGNC:26974 11423 614235 PROVISIONAL 1604496 PDZD9 PDZ domain containing 9 INTERACTS WITH (+)-catechin 16 16 16 p12.2 20774097 20791339 - 21995186 22012431 - 21977878 22001120 - 12477932;15489334;15616553;21832049 255762 E5RJ18;Q8IXQ8 ABBA01003851;AC092119;AC241401;BC021724;BC028605;BC039562;BX100380;CH471249;DB450393;NM_173806;NR_033694;XM_006721028;XM_006721029;XM_006721030 AAH21724;AAH28605;AAH39562;EAW50593;NP_776167;Q8IXQ8;XP_006721091;XP_006721092;XP_006721093 Hs.98244 1688556;1772900;2156498 G34244;RH92160;SHGC-60745 C16orf65;MGC50721 OTTHUMP00000228324;OTTHUMP00000228325;PDZ domain-containing protein 9;PDZ domain-containing protein C16orf65 APPROVED protein-coding ENSG00000155714 HGNC:28740 14667 VALIDATED 1625088 PDZK1P2 PDZ domain containing 1 pseudogene 2 1 1 1 q21.2 119951350 119960129 + 147466033 147481826 - 147993801 148009594 - 14702039;16344560 100034743 AC239801;AC239803;AK126719;AL356004;BX537254;DA085292;NR_003377;NR_111936 A8MUH7 Hs.696575 2177393 RH35978 OTTHUMT00000038524;PDZK1P1 pseudo HGNC:31975 VALIDATED 1626137 PDZK1P1 PDZ domain containing 1 pseudogene 1 1 1 q21.1 120876537 120879319 + 145924388 145942619 - 6480464 14702039 728939 A8MUH7 ABBA01004431;ABBA01007415;ABBA01007416;AK126719;AL356004;NR_003377 A8MUH7 Hs.696575 1689322;5106681 RH47962;WI-11369 pseudo ENSG00000215860 HGNC:31974 PROVISIONAL 1350594 PDZD11 PDZ domain containing 11 ENCODES a protein that exhibits protein C-terminus binding; FOUND IN basolateral plasma membrane; cytosol; INTERACTS WITH methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) X X X q13.1 69859545 69863133 - 69506211 69509798 - 70286361 70289958 - 6480464 11042152;11076863;11230166;12477932;12763866;12975309;15489334;15489336;15772651;16051599;16344560;16381901;17979178;21139048;21183659;21988832;22990118;24250222;24255178 51248 Q5EBL8 ABBA01067554;AC002416;AF003528;AF151061;AK024746;AK311539;AL139111;AL158141;AL357752;AL450449;AMYH02039656;AY358829;BC012996;BC089433;BG708698;BX537725;CH471132;CR457149;DA115661;NG_016799;NM_016484;XM_006724660 AAF36147;AAH12996;AAH89433;AAQ89188;CAD97820;CAG33430;CAL38086;EAX05345;EAX05346;NP_057568;Q5EBL8;XP_006724723 Hs.11042 2177886;5107711 DXS9744;RH78784 AIPP1;PDZK11;PISP ATPase-interacting PDZ protein;OTTHUMP00000023469;OTTHUMP00000023470;PDZ domain-containing protein 11;PMCA-interacting single-PDZ protein;plasma membrane calcium ATPase-interacting single-PDZ protein protein-coding HGNC:28034 06622 300632 VALIDATED 737282 PDZK1IP1 PDZK1 interacting protein 1 FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzene; benzo[a]pyrene 1 1 1 p33 45935537 45942046 - 47649261 47655771 - 47183589 47190099 - 6480464 11997341;12477932;12754212;12837682;14531806;15489334;16169070;16710414;17207965;17230460;17426052;17548903;17675338;18303113;19056867;19601982;19913121;20628086;22266858;23418532;8701988;9461128;9815914 10158 Q13113 ABBA01050828;ABBA01050829;AL135960;AMYH02000968;BC012303;BI763294;BM924665;CH471059;CR450304;NM_005764 AAH12303;ADQ32646;CAB72104;CAG29300;EAX06878;NP_005755;Q13113 Hs.431099 1767997;2168504 SHGC-35625;SHGC-74774 DD96;MAP17;RP1-18D14.5;SPAP 17 kDa membrane-associated protein;OTTHUMP00000009572;OTTHUMP00000009573;PDZK1-interacting protein 1;epithelial protein up-regulated in carcinoma, membrane associated protein 17;membrane-associated protein 17 protein-coding ENSG00000162366 HGNC:16887 06211 607178 VALIDATED 1348280 PDZK5C PDZ domain containing 5C 414180 HGNC:23454 1348843 PDZD3 PDZ domain containing 3 Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008] 11 11 11 q23.3 116215961 116220727 + 119056127 119060932 + 119185418 119190223 + 6480464 11950846;12477932;12615054;14702039;15489334;15523054;1553237;15553237;16344560;19088451;22627094;22884631 79849 B0YJ61;E9PPZ1;E9PRB0;Q86UT5 AB094096;ABBA01039677;AK026409;AK091966;AK298333;AK315403;AMYH02025663;AP002956;AY047359;BC029042;BX648391;CH471065;DA381610;EF445006;NM_001168468;NM_024791;NR_033122;XM_005271678;XM_006718914 AAH29042;AAL10686;ACA06039;BAB15474;BAC03780;BAC76050;BAG60582;EAW67470;EAW67471;EAW67472;EAW67473;EAW67474;NP_001161940;NP_079067;Q86UT5;XP_005271735;XP_006718977 Hs.374726 1688825;1779048;2160089 RH48721;RH94032;WI-16056 FLJ22756;NHERF-4;NHERF4;PDZK2;naPi-Cap2 IKEPP;Na(+)/H(+) exchange regulatory cofactor NHE-RF4;OTTHUMP00000232205;OTTHUMP00000232206;OTTHUMP00000232208;OTTHUMP00000232209;PDZ domain containing 2;PDZ domain-containing protein 2;PDZ domain-containing protein 3;intestinal and kidney enriched PDZ protein;intestinal and kidney-enriched PDZ protein;na/Pi cotransporter C-terminal-associated protein 2;natrium-phosphate cotransporter IIa C-terminal-associated protein 2;sodium-hydrogen exchanger regulatory factor 4 APPROVED protein-coding ENSG00000172367 HGNC:19891 06191 607146 VALIDATED 6481302 PDZRN3-AS1 PDZRN3 antisense RNA 1 3 3 p13 73672659 73677046 + 73623508 73627895 + 101927249 ABBA01030969;AC117489;AK126423;AL692084;AMYH02007071;HG495801;HG495802;LK937718;NR_046681;XR_245071;XR_245072;XR_249420;XR_249421;XR_251391;XR_251392 Hs.733334;Hs.743998 APPROVED ncrna HGNC:40814 VALIDATED 1318876 PDZRN4 PDZ domain containing ring finger 4 ENCODES a protein that exhibits ubiquitin-protein transferase activity (inferred); zinc ion binding (inferred); INVOLVED IN protein ubiquitination (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; methylmercury chloride; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 q12 40385466 40771197 + 41582250 41968392 + 41188397 41574590 + 6480464;8554872 11230166;12477932;14702039;15010864;15174051;15489334;16541075;18464913;19010793;20944657;22889411 29951 B4DGD1;Q6ZMN7 ABBA01031379;ABBA01031380;ABBA01031381;ABBA01031382;ABBA01031383;AC021651;AC073607;AC090531;AK091096;AK094690;AK131554;AK294431;AK294535;AL133067;AMYH02026344;AMYH02026345;AMYH02026346;AW297403;BC040922;BC093744;BC093746;BX640695;CH471111;NM_001164595;NM_013377;XR_429094 AAH40922;AAH93744;AAH93746;BAD18688;BAG52914;BAG57676;BAG57742;CAB61390;CAE45818;EAW57827;EAW57828;EAW57829;NP_001158067;NP_037509;Q6ZMN7 Hs.380044 1646904;1661721;1708088;1708926;1719593;1726997;1728287;1746385;1746407;1746441;1746443;1752343;1762593;2129050;2185103;2186048 D12S1271;G62896;G63423;G64333;G64334;G64335;G64336;RH11208;RH123701;SHGC-106266;SHGC-146391;SHGC-31383;SHGC-57125;SHGC-79515;SHGC-81442;WI-21835 LNX4;SAMCAP3L IMAGE5767589;OTTHUMP00000240901;OTTHUMP00000240902;OTTHUMP00000240903;PDZ domain-containing RING finger protein 4;SEMACAP3-like protein;ligand of Numb protein X 4 protein-coding ENSG00000165966 HGNC:30552 15116 609730 VALIDATED 1313169 PDZRN3 PDZ domain containing ring finger 3 ENCODES a protein that exhibits ubiquitin-protein transferase activity (ortholog); INVOLVED IN protein ubiquitination (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN neuromuscular junction (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid; arsenite(3-) 3 3 3 p13 73365735 73608750 - 73431582 73674072 - 73382431 73624921 - 737633;1580863;6480464;8554872 12477932 10431247;10470851;14702039;15010864;15188402;15305371;15458844;15489334;17118964;17576800;20306291;20379614;20668165;21546767;22609016;22889411;23166209 23024 B7ZAG0;C9JWE6;E7ENB6;H7C566;Q9UPQ7 AB029018;ABBA01030967;ABBA01030968;ABBA01030969;AC024102;AC103560;AC117489;AC119731;AK074573;AK294761;AK299275;AK299560;AK307818;AK316244;AK316275;AL049958;AL157498;AMYH02007068;AMYH02007069;AMYH02007070;AMYH02007071;BC014432;BC150623;BC152417;CH471055;NM_015009;XM_005264718 AAH14432;AAI50624;AAI52418;BAA83047;BAC11068;BAH11874;BAH12989;BAH13065;BAH14615;BAH14646;CAB75679;EAW65531;EAW65532;NP_055824;Q9UPQ7;XP_005264775 Hs.743998 1666314;1693646;1700638;1713537;1724571;1756561;1848534;2124246;2125439;2128285;2168430 A002G41;RH103942;RH120254;RH12030;RH122545;SHGC-143591;SHGC-17226;SHGC-58565;SHGC-77092;SHGC-77094;SHGC-77111 LNX3;SEMACAP3 E3 ubiquitin-protein ligase PDZRN3;OTTHUMP00000213613;OTTHUMP00000213615;OTTHUMP00000213616;OTTHUMP00000213617;OTTHUMP00000213618;PDZ domain-containing RING finger protein 3;ligand of Numb protein X 3;likely ortholog of mouse semaF cytoplasmic domain associated protein 3;semaphorin cytoplasmic domain-associated protein 3 protein-coding ENSG00000121440 HGNC:17704 15115 609729 PROVISIONAL 1348466 PEBP1P1 phosphatidylethanolamine binding protein 1 pseudogene 1 14 14 14 q32.2 76945009 76946378 - 96889265 96890634 - 96422928 96424297 - 326614 ABBA01048594;AL359240;AMYH02029804;NG_002604 1744331 GDB:451706 PBPP1 APPROVED pseudo HGNC:20054 INFERRED 6893068 PEBP1P2 phosphatidylethanolamine binding protein 1 pseudogene 2 2 2 2 p11.2 85396407 85396964 - 85568404 85568961 - 85341281 85341838 - 647307 ABBA01075746;AC093162;AMYH02004179;NG_021511 1769813;2116345 NIB1368;STS-AA004881 pseudo HGNC:44344 INFERRED 736840 PEBP1 phosphatidylethanolamine binding protein 1 ENCODES a protein that exhibits enzyme binding; poly(A) RNA binding; protein kinase binding; INVOLVED IN negative regulation of endopeptidase activity (inferred); PARTICIPATES IN the extracellular signal-regulated Raf/Mek/Erk signaling pathway; ASSOCIATED WITH Alzheimer Disease; Lymphatic Metastasis; Neoplasm Metastasis; FOUND IN extracellular vesicular exosome; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; aldehydo-D-glucose 12 12 12 q24.23 118204960 118214471 + 118573668 118583390 + 118136065 118145585 + 1580863;2302865;2293882;2302863;2302869;2302667;2302735;2302862;2302868;2302867;2302870;2302864;2302866;6480464 10210891;11853019;12813171;15063784;15941609;16243812;17089028;17126425;18191186;18652693;18722266;7770119 10490027;10622376;10757792;11034991;11585904;12421765;12477932;12551925;1286669;14654844;14766752;15001550;15327891;15489334;15782137;1602151;16027165;16169070;16513087;16865242;16916643;17018026;17030190;17081983;17097642;17145707;17179102;17353931;17474147;17911631;17952120;18160415;18172264;18294816;18329792;18375747;18483365;18567796;18781797;18816836;19034380;19056867;19096942;19101508;19103740;19153603;19165527;19228192;19291429;19342899;19357705;19367706;19405953;19551145;19564817;19705153;19779262;19955695;19957553;20028985;20043910;20463977;20533335;20564197;20682295;20734161;20739083;20853079;20855151;20869966;21074977;21080875;21139048;21180766;21303975;21332389;21426659;21556737;21565611;21617351;21664646;21672326;21685394;21689459;21732351;21831839;21873975;21875465;21890473;21906983;21963094;21988832;22031589;22053931;22102006;22246605;22248055;22279539;22292035;22295570;22373584;22388727;22460832;22463874;22492043;22505648;22536838;22558375;22562283;22605662;22662230;22692503;22809510;22833545;22855160;22875620;22899242;22935977;22939629;22983529;23000965;23066033;23066640;23075684;23095933;23254962;23259789;23284715;23359513;23376254;23460950;23527098;23632477;23636063;23674108;23814485;23824909;23872143;23959677;23975428;23991415;24048798;24330423;24392454;24395801;24420151;24654937;24655025;24816145;7637590;7641877;7807553;8125298;8144042;8738137;9782050 5037 B4DRT4;D9IAI1;P30086 ABBA01020051;AC026366;AK226006;AK299414;AK308056;AK311927;AMYH02027330;BC008714;BC017396;BC018799;BC031102;BF978793;CH471054;D16111;EU668351;EU794643;HM131449;NM_002567;S76773;X75252;X85033 AAD14234;AAH08714;AAH17396;AAH31102;ACF94504;ACJ13697;ADI99998;BAA03684;BAG34868;BAG61396;CAA53031;CAA59404;EAW98122;EAW98123;NP_002558;P30086 Hs.433863 1299898;1688100;1744331;1796458;2123403;5125071;7184020 D12S366;GDB:451706;PBP_220;RH26435;RH80579;STS-X75252 HCNP;HCNPpp;HEL-210;HEL-S-34;PBP;PEBP;PEBP-1;RKIP OTTHUMP00000239648;Raf kinase inhibitory protein;epididymis luminal protein 210;epididymis secretory protein Li 34;hippocampal cholinergic neurostimulating peptide;neuropolypeptide h3;phosphatidylethanolamine-binding protein 1;prostatic binding protein;prostatic-binding protein;raf kinase inhibitor protein protein-coding ENSG00000089220 HGNC:8630 06850 604591 VALIDATED 1642918 PEAR1 platelet endothelial aggregation receptor 1 PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008] 1 1 1 q23.1 129934753 129957456 + 156863496 156886226 + 156893704 156916434 + 6480464;8554872 15851471;18511696;19429868;20526338;21791418;23392654;23667054;23704978;23859572 375033 A6PVP2;F2Z2F7;Q5VY43 ABBA01016641;AK074121;AK098809;AL158169;AL356104;AMYH02001983;NM_001080471;XM_005245141;XM_006711301;XM_006711302;XM_006711303 AAI72296;BAB84947;BAC05419;NP_001073940;Q5VY43;XP_005245198;XP_006711364;XP_006711365;XP_006711366 Hs.142003 2131405 SHGC-57514 FLJ00193;JEDI;MEGF12;hPEAR1 OTTHUMP00000038718;multiple EGF-like domains protein 12;multiple EGF-like-domains 12;multiple epidermal growth factor-like domains protein 12 APPROVED protein-coding ENSG00000187800 HGNC:33631 610278 PROVISIONAL 6892980 PEBP1P3 phosphatidylethanolamine binding protein 1 pseudogene 3 1 1 1 q31.3 171770587 171771685 - 198647467 198649268 - 198678338 198680139 - 100129570 ABBA01027578;AL157402;AMYH02002445;NG_007730;NG_027979 1744331;1791604;1847803 AL010096;GDB:451706;PMC116441P1 pseudo HGNC:44345 INFERRED 732823 PDZK1 PDZ domain containing 1 This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 1 1 1 q21 119930736 119957156 + 145727662 145764207 + 145670852 145707404 - 6480464 10496535;10829064;11051556;11076863;11099500;12063253;12119305;12424224;12471024;12477932;12615054;12754212;12837682;14531806;14551195;14702039;15215163;15304510;15489334;15489336;15494376;15523054;15553237;15766278;15767854;15994332;16012170;16189514;16192282;16236806;16381901;16710414;16738539;17507652;17602283;17990980;18029348;18045536;18403724;18955051;19056867;19091402;19173579;19321583;19421056;19447883;19503597;19535329;19861489;19890391;19913121;20162742;20162743;20237154;20628086;20632170;20855565;20884846;20949066;21059598;21183661;21653824;21832049;22528496;22696060;23263486;23457445;23547718;23821363;24152035;24436471;24869908;9461128;9924606 5174 Q5T2W1 ABBA01005738;AC242845;AF012281;AK298269;AK313100;AL390725;BC006496;BC006518;BX477678;CH471244;NM_001201325;NM_001201326;NM_002614;XM_005272968;XM_005272969;XM_005272970 AAC12264;AAH06496;AAH06518;BAG35924;BAG60531;CAI13715;CAI13716;CAL38402;EAW71441;EAW71442;EAW71443;NP_001188254;NP_001188255;NP_002605;Q5T2W1;XP_005273025;XP_005273026;XP_005273027 Hs.444751;Hs.732345 1679031;2177393;5106681 RH35978;RH79649;WI-11369 CAP70;CLAMP;NHERF-3;NHERF3;PDZD1;naPi-Cap1 C-terminal linking and modulating protein;CFTR-associated protein of 70 kDa;Na(+)/H(+) exchange regulatory cofactor NHE-RF3;Na(+)/H(+) exchanger regulatory factor 3;OTTHUMP00000015572;PDZ domain-containing protein 1;PDZ-containing kidney protein 1;na/Pi cotransporter C-terminal-associated protein 1;sodium-hydrogen exchanger regulatory factor 3 APPROVED protein-coding ENSG00000174827 HGNC:8821 04829 603831 REVIEWED 1314452 PEA15 phosphoprotein enriched in astrocytes 15 This gene encodes a death effector domain-containing protein that functions as a negative regulator of apoptosis. The encoded protein is an endogenous substrate for protein kinase C. This protein is also overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 q21.1 133243885 133253922 + 160175125 160185162 + 160205335 160215372 + 1580863;6480464 10442631;10493725;10607908;10926929;11702783;11790785;11976344;12477932;12796492;12808093;14702039;15328349;15331596;15489334;15916534;16044159;16061647;16169070;16170361;16344560;16822839;16987961;17021921;17081983;17227770;17255949;17658892;17700518;18077417;18284607;18541525;18765665;19010903;19103758;19382910;19531639;19771552;20032303;20396999;20406097;20452983;20537721;20648624;20825483;20979872;21044950;21139048;21198825;21565611;21895963;21900206;21906983;22144664;22213050;22694972;22732408;22820249;23481023;23543364;23575685;23608947;23792157;24477641;24639526;24710276;24816145;7861130;8449955;8662970;9205133;9670003;9721757;9852038 8682 B1AKZ4;B1AKZ5;Q15121 AA837443;ABBA01016613;AF153274;AI948916;AK095879;AK311762;AL121987;AL139011;AMYH02002023;BC002426;BC010469;BC022554;BT007252;CH471121;CR541733;DA131259;DA157938;DA532423;DA538845;DA707281;HY182028;L37385;NM_001297576;NM_001297577;NM_001297578;NM_003768;NR_123724;X86809;XM_005245564;XM_006711598;XM_006711599;Y13736 AAA98120;AAD56775;AAH02426;AAH10469;AAH22554;AAP35916;ABM82747;ABM82750;ABM85934;BAG34705;BAG53155;CAA60499;CAA74076;CAG46533;EAW52733;EAW52734;EAW52735;NP_001284505;NP_001284506;NP_001284507;NP_003759;Q15121;XP_005245621;XP_006711661;XP_006711662 Hs.517216 1728949;1735224;2117591;2147618;2151431;2167572;2174602 A002L26;BCD1937;D10Bir17;D1S1839E;D1S3374;RH11797;T03437 HMAT1;HUMMAT1H;MAT1;MAT1H;PEA-15;PED 15 kDa phosphoprotein enriched in astrocytes;OTTHUMP00000029886;OTTHUMP00000029887;OTTHUMP00000029888;Phosphoprotein enriched in astrocytes, 15kD;astrocytic phosphoprotein PEA-15;homolog of mouse MAT-1 oncogene;mammary transforming gene 1, mouse, homolog of;phosphoprotein enriched in diabetes 2314798;2314801 GLUCO117_H;GLUCO120_H APPROVED protein-coding ENSG00000162734 HGNC:8822 04579 603434 REVIEWED 1606949 PEBP4 phosphatidylethanolamine-binding protein 4 The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008] 8 8 8 p21.3 21533122 21747804 - 22570765 22785491 - 22713252 22927974 - 6480464;8554872 10737800;12477932;12975309;15302887;15340161;15489334;16865237;18519826;19197339;19240061;20379614;20460377;21887552;22076923;22125029;22589738;22801881;22983920;23451095;23818363;24159190;24839885 157310 E5RIK3;Q96S96 ABBA01005527;ABBA01005528;ABBA01005529;ABBA01005530;ABBA01005531;AC037441;AC055854;AC105046;AMYH02017596;AY037148;AY359109;AY730275;BC020779;BF853000;CH471080;FJ224332;GM720450;NM_144962;XM_005273416 AAH20779;AAK67629;AAQ89467;AAW56965;ACI46024;CAT16638;EAW63647;NP_659399;Q96S96;XP_005273473 Hs.491242 1334566;1656501;1669870;1766453;1773258;1780030;2116245;2124658;5491715 D8S1752;G27363;G32141;RH124733;RH48790;SHGC-149783;SHGC-154288;SHGC-36225;SHGC-5739 CORK-1;CORK1;GWTM1933;HEL-S-300;MGC22776;PEBP-4;PRO4408;hPEBP4 OTTHUMP00000224721;cousin-of-RKIP 1 protein;epididymis secretory protein Li 300;protein cousin-of-RKIP 1 APPROVED protein-coding ENSG00000134020 HGNC:28319 11424 612473 VALIDATED 1603637 PECR peroxisomal trans-2-enoyl-CoA reductase ENCODES a protein that exhibits receptor binding; trans-2-enoyl-CoA reductase (NADPH) activity; INVOLVED IN oxidation-reduction process; phytol metabolic process; FOUND IN intracellular membrane-bounded organelle; peroxisome; peroxisomal membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 2 2 2 q35 210672701 210716120 - 216903111 216946539 - 216031705 216081816 - 6480464 10811639;11043578;11669066;11827452;11937624;12477932;15489334;15815621;16546181;18029348;19027726;19581569;20178365;20463177;22002062;22745130 55825 B4DJS2;Q9BY49 ABBA01062807;ABBA01062808;ABBA01062809;ABBA01062810;AC010686;AF212234;AF232009;AJ250303;AK296208;AK315795;AMYH02005755;AMYH02005756;AMYH02005757;BC002529;BG742200;BG939782;BU151224;BX471043;CH471063;CR457145;NM_018441;XR_427102;XR_427103 AAF69798;AAH02529;AAK14920;AAY14657;ACE87059;ACE87740;BAG38139;BAG58934;CAB89810;CAG33426;EAW70557;EAW70558;NP_060911;Q9BY49 Hs.281680 DCR-RP;DCRRP;HSA250303;PVIARL;SDR29C1;TERP;pVI-ARL 2,4-dienoyl-CoA reductase-related protein;HPDHASE;OTTHUMP00000206786;putative short chain alcohol dehydrogenase;short chain dehydrogenase/reductase family 29C, member 1 protein-coding ENSG00000115425 HGNC:18281 09320 605843 VALIDATED 1352387 PEE1 preeclampsia/eclampsia 1 ASSOCIATED WITH Pre-Eclampsia (inferred) 7240710 9150163 5177 HGNC:8825 189800 1605152 PEF1 penta-EF-hand domain containing 1 This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010] 1 1 1 p34 30364685 30380064 - 32095463 32110838 - 31629862 31645237 - 6480464 10486255;11278427;11883899;12445460;12477932;12804766;12975309;14702039;16189514;16196087;16344560;16429158;17207965;19056867;19060904;20000738;21139048;21145461;21988832;22053931;22939629;23824909;24816145 553115 Q9UBV8 AB018357;AB026628;ABBA01023454;AC114488;AK001420;AK092483;AK301226;AMYH02000686;AY359011;BC002773;BC012561;BG546473;BI826532;CA307778;CH471059;CR542139;DB024828;DC301714;NM_012392;NR_033686;NR_033688 AAH02773;AAH12561;AAQ89370;ADQ31636;BAA84922;BAA85163;BAA91680;BAG62799;CAG46936;EAX07598;EAX07599;NP_036524;Q9UBV8 Hs.470417 1690874;1733168 D1S1472;RH79572 ABP32;PEF1A OTTHUMP00000003953;PEF protein with a long N-terminal hydrophobic domain;peflin;penta-EF hand domain containing 1;penta-EF hand domain-containing protein 1 APPROVED protein-coding ENSG00000162517 HGNC:30009 10143 610033 REVIEWED 1344453 PEG13 paternally expressed 13 359809 AY151252 HGNC:19969 7374592 PEAK1 pseudopodium-enriched atypical kinase 1 This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 2014] 15 15 15 q24.3 54338615 54506133 - 77400498 77712446 - 77108156 77420104 - 6480464;8554872 11827452;12056414;12471243;14702039;15592455;16344560;16572171;16879967;17081983;19380743;20379614;20534451;21139048;21301050;21706016;22589274;23105102;23378338 79834 H0YN99;H3BUE6;H3BUZ5;Q9H792 AB082533;ABBA01060563;ABBA01060564;ABBA01060565;ABBA01060566;AC060773;AC087465;AC090984;AC107883;AF086416;AF088077;AK024793;AK025943;AK074157;AK091802;AK124548;AK127658;AMYH02030850;AMYH02030851;AMYH02030852;AW069191;BX953442;DA651665;NG_034037;NM_024776;XM_005254670;XM_005254671;XM_005254672;XM_005254673;XM_005254674;XM_005254675;XM_006720691 AAI72320;BAB15006;BAB84983;BAC02711;BAC87076;NP_079052;Q9H792;XP_005254727;XP_005254728;XP_005254729;XP_005254730;XP_005254731;XP_005254732;XP_006720754 Hs.731402;Hs.9587 1667603;1676858;1693558;1700936;1712707;2141515;2172035;5015613;5109901 A002R17;D11S2702;D11S3059;RH104095;RH121050;RH27909;SHGC-57598;SHGC-58468;WI-17323 SGK269 NKF3 kinase family member;pseudopodium enriched atypical kinase;sugen kinase 269;tyrosine-protein kinase SgK269 protein-coding ENSG00000173517 HGNC:29431 614248 REVIEWED 2301272 PEG3-AS1 PEG3 antisense RNA 1 This gene is located in the paternally expressed gene 3 (PEG3) imprinted region on chromosome 19. A paternally imprinted antisense transcript of PEG3 is expressed from this gene and is localized in the 3' UTR of PEG3. A homologous transcript have been found in other mammalian species. This antisense transcript may be involved with the regulation of PEG3. [provided by RefSeq, Sep 2009] 19 19 19 q13.43 54365951 54367264 + 57323848 57325161 + 56812480 56813793 + 6480464;8554872 15950772;18166281;24582979 100169890 ABBA01020829;AC006115;AMYH02036501;NG_012989;NR_023847 1667068;1669049;1734708;1788650 D19S699E;RH18153;SHGC-32171;STS-W93046 APEG3;NCRNA00155;PEG3-AS;PEG3AS APPROVED ncrna HGNC:35127 VALIDATED 1349615 PECAM1 platelet/endothelial cell adhesion molecule 1 The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010] 17 17 17 q23.3 56788107 56856790 - 62396775 62404856 - 64319415 64413779 - 1581009;1581010;1598382;1580863;2311660;2311662;2311655;2311657;2311656;6480464;6771230;6771175;6771231;6771362;6484732;6767293;6771174;6771179;6771214;6771215;6771221;6771225;6771359;6767294;6771207;6771227;6771229;6771206;6483494;6771213;6771222;6767571;6771355;6767296;6771176;6771356;6771228;6771224;6767285;6771319;6771178;6771210;6771223;6484725;6767304;6771358;6771226;6771211;6771205;6771360;6771212;6771177;6771216;6484728;6484736;6484738;6766379;6767292;6767297;6771318;6771361;6907045;6906905;8554872 10329590;10571959;10780329;11795274;12121711;12732396;14613294;15042541;15265022;15488875;17659202;21702037;21719569;21760628;21781312;21788831;21839061;21858729;21864409;21872880;21890879;21892527;21940947;21960570;21967314;21979132;21982514;21984919;22053073;22092840;22101032;22119535;22153987;22174364;22211720;22227376;22331014;22336118;22336504;22351899;22369073;22382321;22451518;22456311;22465620;22534418;22548760;22552115;22553751;22555941;22592748;22615899;22658532;22697005;22717029;22737245;22751595;22806890;22832932;8989147 10091339;10350061;10425179;10655298;10704309;10801826;10858437;10982404;11019910;11056124;11149921;11250042;11469534;11719109;11776680;11791967;11927609;11940533;12027924;12110892;12127674;12215337;12378388;12393634;12393699;12393747;12397602;12433657;12468430;12477932;12552497;12581968;12610627;12616538;12646189;12649141;12651608;12653580;12658549;12681475;12689916;12775720;12850829;12893640;12893767;12915579;14519385;14566092;14702039;14754395;14991534;15048167;15065759;15196923;15231748;15249199;15249221;15489334;15550032;15550034;15589815;15592455;15644126;15668248;15731036;15753851;15756041;15908974;15985432;16002039;16044920;16169070;16219692;16308102;16357318;16426244;16507710;16518857;16551678;16681757;1690453;16984283;1700999;17068334;17106245;17113632;17116209;17130180;17192395;17194459;17212705;17348207;17365855;17429142;17460171;17464107;17483704;17509538;17510564;17580308;17703412;17704297;17785788;17922402;17940969;17954174;18060625;18182571;18243211;18301339;18327914;18388311;18393439;18519815;18583570;18672896;18698258;18710921;1874786;18821037;18848929;18983521;19055786;19056482;19183069;19212205;19236520;19258923;19306055;19332487;19342684;19424605;19570335;19578796;19661015;19729601;19850043;19851296;19897387;19956559;20051117;20074345;20173029;20194726;20198315;20220571;20369584;20370486;20400708;20403098;20403242;20452482;20470859;20473646;20485444;20492609;20503287;20581150;20589320;20602615;20631249;20634489;20673868;20675279;20712008;20723025;20724702;20850712;20864561;21183735;21190742;21378988;21486942;21840193;21898411;22000807;22109690;22188988;22189791;22204709;22213152;22246909;22372906;22395512;22396143;22496122;22723439;23106575;23233201;23264219;23264403;23301033;23308177;23418871;23494670;2351935;23729443;23737650;23874603;23906939;24025427;24030383;24081660;24225899;24388971;24497640;24550400;24777337;24816145;7994021;8080982;8226797;8467233;8532023;8661055;8876219;8955189;9054388;9290466;9298995;9551996;9620836;9624175;9774384;9774457 5175 P16284 ABBA01035302;ABBA01035303;ABBA01035304;AC016489;AC138744;AC234063;AF281287;AF281288;AF281289;AF281290;AF281291;AF281292;AF281293;AF281294;AF281295;AF281296;AF281297;AF281298;AF281299;AF281300;AF281301;AF393676;AF393677;AF393678;AK091419;AK290692;AK303959;AK304166;AMYH02033790;BC022512;BC051822;BG272085;CH471109;JQ287500;L34631;L34632;L34633;L34634;L34635;L34636;L34637;L34638;L34639;L34640;L34641;L34642;L34643;L34644;L34645;L34646;L34647;L34648;L34649;L34650;L34651;L34652;L34653;L34654;L34655;L34656;L34657;M28526;M37780;NM_000442;S66450;X96849;XM_005276880;XM_005276881;XM_005276882;XM_005276883;XM_006721944;XM_006721945 AAA36186;AAA36429;AAA60057;AAB28645;AAF91446;AAF91447;AAF91448;AAF91449;AAF91450;AAF91451;AAF91452;AAF91453;AAF91454;AAF91455;AAF91456;AAF91457;AAF91458;AAF91459;AAF91460;AAH22512;AAH51822;AAK84009;AAK84010;AAK84011;ABM84570;AFA36630;BAF83381;BAH14084;BAH14122;EAW94207;EAW94208;NP_000433;P16284;XP_005276937;XP_005276938;XP_005276939;XP_005276940;XP_006722007;XP_006722008 Hs.376675;Hs.514412 1651079;1722455;1763025;2130076;2155938;2171504;2217728;5015861;5022578;5022651;5037552;5112013;7185938 D10S16;D11S2921;D17S1992;D1S1423;D8S2279;G44352;G60155;PECAM1_1262;RH11535;RH11719;RH17926;SHGC-146770 CD31;CD31/EndoCAM;FLJ34100;FLJ58394;GPIIA';PECA1;PECAM-1 CD31 antigen;adhesion molecule;endoCAM;platelet endothelial cell adhesion molecule APPROVED protein-coding ENSG00000261371 HGNC:8823 01425 173445 REVIEWED 1322532 PELI1 pellino E3 ubiquitin protein ligase 1 ENCODES a protein that exhibits ligase activity (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN innate immune response (inferred); MyD88-dependent toll-like receptor signaling pathway (inferred); negative regulation of NF-kappaB transcription factor activity (inferred); PARTICIPATES IN interleukin-1 signaling pathway; FOUND IN cytosol (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 p13.3 64165044 64216871 - 64319786 64371605 - 64092652 64144471 - 5490215;6480464 20086235 11132151;11306823;12477932;12496252;12804775;14702039;15276183;15489334;15917247;16344560;16884718;16951688;17207965;17675297;17997719;18326498;18976975;19081057;19264966;19734906;21120624;21204785;21221998;21890473;22105492;22505724;23602568;23846693;23921680;24250222;25027698 57162 Q53T26;Q96FA3 ABBA01075416;AC012368;AF300987;AF302505;AJ278859;AK027668;AK312441;AMYH02003964;AX817191;AX817193;AY364257;BC011419;BC050019;BC050533;BC063611;BM992606;BX649152;CH471053;DA804964;NM_020651;XM_005264436;XM_005264437 AAG15393;AAG17451;AAH11419;AAH50019;AAH63611;AAQ76816;AAY24274;ADQ32988;BAB55280;BAG35350;CAC04320;CAE84324;CAE84325;EAW99948;EAW99949;EAW99950;NP_065702;Q96FA3;XP_005264493;XP_005264494 Hs.7886 1675137;1677698;1734928;1776158;1776160;1783996;1857401;2172250;5015619;5016851;5017433;5019070;5022578 A002A16;A009Q06;D11S3114;D1S1423;D2S1618E;D2S1694E;G19846;G44334;RH12405;RH76159;RH80031;SHGC-142642;STS-T76997 DKFZp686C18116;MGC50990 E3 ubiquitin-protein ligase pellino homolog 1;OTTHUMP00000159897;pellino homolog 1;pellino-1;pellino-related intracellular-signaling molecule APPROVED protein-coding ENSG00000197329 HGNC:8827 17834 614797 VALIDATED 1605259 PELI3 pellino E3 ubiquitin protein ligase family member 3 The protein encoded by this gene is a scaffold protein and an intermediate signaling protein in the innate immune response pathway. The encoded protein helps transmit the immune response signal from Toll-like receptors to IRAK1/TRAF6 complexes. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] 11 11 11 q13.2 63554147 63565058 + 66233798 66244808 + 66466327 66477337 + 5490215;6480464 20086235 12477932;12874243;14702039;15489334;15917247;16344560;16884718;17675297;18326498;21832049;21926972;23042151;23892723;25027698 246330 E9PI91;E9PQX6;E9PR85;H0YEM6;Q8N2H9 ABBA01024076;AF487456;AF487457;AK074201;AK075253;AK094060;AL834395;AMYH02024979;AP002748;BC021256;BC025723;BC127759;BX341733;CH471076;CQ783886;DA203229;NG_029627;NM_001098510;NM_001243135;NM_001243136;NM_145065;XM_006718484;XM_006718485 AAH21256;AAH25723;AAI27760;AAO49465;AAO49466;BAB85015;BAC04275;BAC11499;CAD39057;CAF86908;EAW74532;EAW74533;EAW74534;EAW74535;EAW74536;NP_001091980;NP_001230064;NP_001230065;NP_659502;Q8N2H9;XP_006718547;XP_006718548 Hs.656875 5107803 RH69877 MGC35521 E3 ubiquitin-protein ligase pellino homolog 3;OTTHUMP00000235209;OTTHUMP00000235210;OTTHUMP00000235212;OTTHUMP00000235213;pellino 3;pellino homolog 3;pellino-3 APPROVED protein-coding ENSG00000174516 HGNC:30010 17535 609827 REVIEWED 1343336 PELO pelota homolog (Drosophila) This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008] 5 5 5 q11.2 49037324 49052004 + 52083774 52098451 + 52787940 52802617 + 1580863;6480464;6907045 10810093;11060452;12477932;14702039;15489334;15635413;17081983;17314511;17353931;17669516;19913121;20306291;20406461;20628086;21139048;21145461;21448132;21906983;21963094;21987572;22020760;22053931;22190034;22505724;22797925;22990118;23000965;23435426;23455924;23509613;23667253;23703321;24816145 53918 Q9BRX2;Q9UHT8 ABBA01015716;AC026230;AF118075;AF132951;AF139828;AF143952;AK025729;AK056144;AK312633;AMYH02011289;AY117399;BC005889;BC007249;BC007650;BC022789;CH471123;NM_015946 AAD27726;AAF22019;AAG22574;AAG22575;AAH05889;AAH07249;AAH07650;AAH22789;AAM89414;ABM83876;ABM87197;BAG51633;EAW54864;EAW54870;NP_057030;Q9BRX2 Hs.644352 1664792;1718721;1724255;1735570;1790169;1794248;2125775 D5S1686E;L28297;PMC310876P1;Pelo;RH121270;RH123048;SHGC-32850 CGI-17;PRO1770 OTTHUMP00000122446;protein pelota homolog APPROVED protein-coding HGNC:8829 09309 605757 REVIEWED 1348424 PEPB peptidase B 5182 HGNC:8838 169900 1345031 PEPC peptidase C 6480464 5183 HGNC:8839 170000 732310 PEMT phosphatidylethanolamine N-methyltransferase Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012] 17 17 17 p11.2 18348298 18434406 - 17408877 17495434 - 17505563 17591703 - 1580863;1300048;729486;1642369;1642370;1642378;6480464;6907045 17116711;17156888;7929120;8344945 10100195;10931946;11420179;11997338;12431977;12477932;12842883;12931022;15927961;16051693;16816108;17207965;17391797;17456783;17720317;17881348;18230680;19167960;19211833;19260141;19262398;19343046;19647326;19737740;19878569;19913121;20379614;20492333;20534746;20628086;20662904;20861172;21059658;21378990;21411618;21429654;21881829;22387881;22779921;2295142;23794489;24262325;2722775;3025802;3223955;509240;6830234;7219528;8978486;9370326;9371769;9989271 10400 D3YTC7;J3KTR2;J3QLU8;Q9UBM1 AB029821;ABBA01009756;ABBA01009757;ABBA01009758;AC020558;AF044214;AF113126;AF176806;AF176807;AF294468;AK302251;AMYH02033089;AMYH02033090;BC000557;BC050593;BM011377;CH471196;CR457099;EU574003;KF456253;NM_001267551;NM_001267552;NM_007169;NM_148172;NM_148173;XM_006721418 AAD53291;AAD53292;AAF14867;AAH00557;AAH50593;AAK19172;AAQ13425;ACB21050;ADQ33077;BAA82407;BAG63603;CAG33380;EAW55700;EAW55701;EAW55702;NP_001254480;NP_001254481;NP_009100;NP_680477;NP_680478;Q9UBM1;XP_006721481 Hs.714193 1336752;2119609 D10S604;RH11851 MGC2483;PEMPT;PEMT2;PNMT OTTHUMP00000065535;OTTHUMP00000065536;OTTHUMP00000065537;OTTHUMP00000065538;OTTHUMP00000065539;PEAMT APPROVED protein-coding ENSG00000133027 HGNC:8830 03862 602391 REVIEWED 1353013 PELI2 pellino E3 ubiquitin protein ligase family member 2 ENCODES a protein that exhibits ligase activity (inferred); INVOLVED IN positive regulation of MAPK cascade; positive regulation of protein phosphorylation; PARTICIPATES IN interleukin-1 signaling pathway; FOUND IN cytosol (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; diazinon 14 14 14 q21 36634745 36817661 + 56585039 56768241 + 56118375 56301523 + 1580863;5490215;6480464 20086235 11306823;12370331;12477932;12804775;12860405;15213237;15276183;15489334;15917247;16713569;16884718;17675297;17997719;18326498;20379614;21460395;21988832;22505724;22669975;23144326;23192594;23602568;25027698 57161 H0YK56;H0YNF4;Q9H716;Q9HAT8 ABBA01018220;ABBA01018221;ABBA01018222;ABBA01018223;AF302502;AK025208;AK315727;AL133605;AL138995;AL355073;AL709755;AMYH02029245;BC009476;CH471061;NM_021255;XM_005267890;XM_006720211 AAG15390;AAH09476;BAB15084;BAG38082;CAH56388;EAW80689;NP_067078;Q9HAT8;XP_005267947;XP_006720274 Hs.657926 1340970;1659618;1667521;1704058;1731645;1753765;1848382;2110945;2178072;2187813 BCD1201;D14S1056;D14S107E;D14S146;G69464;RH44501;RH69581;SHGC-77859;SHGC-89219;WI-18078 E3 ubiquitin-protein ligase pellino homolog 2;OTTHUMP00000179021;pellino homolog 2;pellino-2 APPROVED protein-coding ENSG00000139946 HGNC:8828 17835 614798 VALIDATED 68998 PENK proenkephalin ENCODES a protein that exhibits neuropeptide hormone activity (inferred); opioid peptide activity (inferred); INVOLVED IN aggressive behavior (inferred); behavioral fear response (inferred); locomotory behavior (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH amphetamine; arsenite(3-); cadmium atom 8 8 8 q23-q24 53344310 53350077 - 57353513 57359282 - 56440954 56446723 - 1580863;6480464;8554872 11140838;12000709;12477932;15489334;16406203;16621157;17074347;17198183;1729392;17503481;17599100;18082911;18184800;18240029;18391951;18577758;19086053;19874574;20207019;20379614;20546612;20628265;20734064;21810780;21890473;22102294;22391864;22393040;22745721;23937196;24289328;2893547;6281660;6761648;7057924;7559749;7560016;7704301;7759618;7829101;8206338;9126357;9357452 5179 E5RFR1;E5RIP6;E5RJ72;H0YBT5;P01210 ABBA01041769;AC023464;AK314908;AMYH02018020;BC032505;BC107706;BI496610;BI913625;CH471068;CR541808;CR541828;DB496514;J00122;J00123;NM_001135690;NM_006211;V00509 AAB59409;AAH32505;AAI07707;ABM81791;ABM81797;ABM84953;BAG37420;CAA23767;CAG46607;CAG46627;EAW86785;EAW86786;EAW86787;NP_001129162;NP_006202;P01210 Hs.339831 1335586;1651103;1740903;1742077;1786530;1796502;2151821;2190853 D8S1816;GDB:174923;GDB:190878;PENK;PENK_1026;RH18068;RH46963;SHGC-106945 OTTHUMP00000226644;OTTHUMP00000226645;OTTHUMP00000226646;enkephalin A;preproenkephalin;proenkephalin-A protein-coding ENSG00000181195 HGNC:8831 08837 131330 VALIDATED 1349907 PEG10 paternally expressed 10 This is a paternally expressed imprinted gene that encodes transcripts containing two overlapping open reading frames (ORFs), RF1 and RF1/RF2, as well as retroviral-like slippage and pseudoknot elements, which can induce a -1 nucleotide frame-shift. ORF1 encodes a shorter isoform with a CCHC-type zinc finger motif containing a sequence characteristic of gag proteins of most retroviruses and some retrotransposons. The longer isoform is the result of -1 translational frame-shifting leading to translation of a gag/pol-like protein combining RF1 and RF2. It contains the active-site consensus sequence of the protease domain of pol proteins. Additional isoforms resulting from alternatively spliced transcript variants, as well as from use of upstream non-AUG (CUG) start codon, have been reported for this gene. Increased expression of this gene is associated with hepatocellular carcinomas. [provided by RefSeq, May 2010] 7 7 7 q21 88983852 88997218 + 94285637 94299007 + 94656325 94669695 + 6480464;8554872 10470851;11158386;11318613;11574691;12477932;12589020;12620933;12810624;12853948;14576465;15231748;15342556;15611116;15716091;15767280;16053381;16093683;16225771;16344560;16423995;17621626;17942406;18550496;18625225;20084274;20362226;20460050;20484977;20972266;21139048;21205473;21455631;21767414;21890473;21903422;21906983;21963094;21987572;21988832;22137777;22673314;22863883;22939629;23666762;24250222;25015289;8619474;9110174 23089 B4DSP0;Q86TG7 AB028974;AB049150;AB049834;ABBA01045782;AC069292;AF038197;AF216076;AK025529;AK299837;AL589326;AMYH02016286;BC015448;BC050659;BP250746;CH236949;CH471091;DA297295;DA683494;NG_011340;NM_001040152;NM_001172437;NM_001172438;NM_001184961;NM_001184962;NM_015068;R17262;R79712 AAH50659;AAS07484;BAA83003;BAB43951;BAB68387;BAG61702;EAW76781;NP_001035242;NP_001165908;NP_001165909;NP_001171890;NP_001171891;NP_055883;Q86TG7 Hs.147492 1646450;1675156;2108351;2114565;5492669 PEG10_8006;STS-H51766;UniSTS:481964;WI-12157;WI-20034 Edr;HB-1;KIAA1051;MEF3L;Mar2;Mart2;RGAG3 MEF3 like 1;MEF3-like protein 1;OTTHUMP00000208295;OTTHUMP00000208296;embryonal carcinoma differentiation regulated;embryonal carcinoma differentiation-regulated protein;mammalian retrotransposon-derived protein 2;myelin expression factor 3-like protein 1;paternally expressed gene 10 protein;retrotransposon gag domain containing 3;retrotransposon gag domain-containing protein 3;retrotransposon-derived gag-like polyprotein;retrotransposon-derived protein PEG10;ty3/Gypsy-like protein APPROVED protein-coding ENSG00000242265 HGNC:14005 609810 REVIEWED 1350203 PEPE peptidase E 5185 HGNC:8841 170200 1322359 PEG3 paternally expressed 3 In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009] 19 19 19 q13.4 54363548 54394181 - 57285730 57352121 - 56810077 56840726 - 1580863;6480464;8554872 10681424;10708526;11181995;11260267;11331620;11746496;11943780;12477932;15174051;15489334;15908796;16023706;16159311;16713569;18029348;18286529;19367087;19397955;19834535;20064927;23151531;23418553;23798385;23936039;24120702;24250222;9149948;9500555 5178 M0QXG1;M0QZD4;Q96Q96;Q9GZU2 AB003039;AB006625;ABBA01020829;AC006115;AF208967;AF208968;AF208969;AF208970;AF208980;AI089069;AK295679;AK307476;AMYH02036501;BC037330;BC052616;BC136268;BC150272;CH471135;CR933682;NG_012989;NM_001146184;NM_001146185;NM_001146186;NM_001146187;NM_006210;U90336 AAB50011;AAC83176;AAG35739;AAG35740;AAG35741;AAG35742;AAG42324;AAG42325;AAH52616;AAI36269;AAI50273;BAA22956;BAB85588;BAG58536;CAI45975;EAW72474;EAW72476;EAW72477;EAW72478;NP_001139656;NP_001139657;NP_001139658;NP_001139659;NP_006201;Q9GZU2 Hs.731875 1667068;1669049;1734708;1788650;1852057;2170721;5020277;5094920;5122503 D19S699E;PEG3;RH17474;RH18153;RH66112;SGC34114;SHGC-32171;STS-W93046;WI-22317 DKFZp781A095;KIAA0287;PW1;ZKSCAN22;ZNF904;ZSCAN24 Kruppel-type zinc finger protein;paternally expressed gene 3;paternally-expressed gene 3 protein;zinc finger and SCAN domain-containing protein 24 APPROVED protein-coding ENSG00000198300 HGNC:8826 03285 601483 REVIEWED 1606208 PERM1 PPARGC1 and ESRR induced regulator, muscle 1 INVOLVED IN response to muscle activity; regulation of transcription, DNA-templated (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog); INTERACTS WITH aflatoxin B1; hydroquinone O-beta-D-glucopyranoside; kojic acid 1 1 1 p36.33 1672416 1681155 + 910579 917473 - 975199 982093 - 6480464 12477932;23836911;8681137 84808 Q5SV97 ABBA01016005;ABBA01016006;AK123855;AK312221;AL645608;AMYH02000071;AMYH02000072;BC006300;F22110;KF150175;NM_001291366;NM_001291367;NR_027693 AAH06300;AGQ48858;BAC85711;BAG35154;NP_001278295;NP_001278296;Q5SV97 Hs.271462 C1orf170;FLJ92510;MGC13275;RP11-54O7.8 PGC-1 and ERR-induced regulator in muscle 1;PGC-1 and ERR-induced regulator in muscle protein 1;PPARGC1 and ESRR-induced regulator in muscle 1;peroxisome proliferator-activated receptor gamma coactivator 1 and estrogen-related receptor-induced regulator in muscle 1 APPROVED protein-coding ENSG00000187642 HGNC:28208 615921 VALIDATED 1321113 PERP PERP, TP53 apoptosis effector INVOLVED IN activation of cysteine-type endopeptidase activity; positive regulation of proteolysis; PARTICIPATES IN p53 signaling pathway; FOUND IN cell junction (inferred); Golgi apparatus (inferred); integral component of plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 6 6 6 q24 139149757 139168773 - 138409642 138428660 - 138088505 138107523 - 6480464;6907045 10733530;11062687;12477932;12752121;14574404;14702039;14726658;15489334;16303743;16344560;18029348;18387192;18976975;19040420;19158843;19353588;19913121;20306497;20453000;20628086;20800603;20975948;21254927;21451571;22515648;23333304;23568457;24066004;8125298;8889548 64065 Q96FX8 ABBA01025812;AF317550;AJ251830;AK074585;AK075082;AK093516;AK097387;AK097958;AK225907;AK314526;AL023582;AL355362;AMYH02014574;AY157578;BC010163;BU674771;CA310443;CH471051;CQ782552;CX784592;DA750046;DR422553;JA738623;NM_022121 AAG35063;AAH10163;AAO13162;ABM83596;ABW03525;BAC05205;BAC11074;BAC11390;BAG37120;BAG52734;BAG53462;CAC17766;CAF85829;CCF76964;EAW47920;EAW47921;NP_071404;Q96FX8 Hs.201446 1337847;1665753;1668560;1852071;2219490 D6S1587;PERP__5667;RH36130;RH46733;WI-18594 KCP-1;KCP1;KRTCAP1;PIGPC1;RP3-496H19.1;THW;dJ496H19.1 1110017A08Rik;OTTHUMP00000017293;keratinocyte associated protein 1;keratinocyte-associated protein 1;keratinocytes associated protein 1;p53 apoptosis effector related to PMP-22;p53 apoptosis effector related to PMP22;p53-induced protein PIGPC1;transmembrane protein THW protein-coding ENSG00000112378 HGNC:17637 17836 609301 VALIDATED 1604366 PELP1 proline, glutamate and leucine rich protein 1 This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 17 17 17 p13.2 4590062 4623008 - 4574679 4607712 - 4671384 4704782 - 6480464 11481323;12477932;12639951;12682072;14963108;15231748;15345747;15374949;15456770;15466214;15489334;15579769;15960975;15994929;16021574;16140940;16169070;16297421;16352611;16565220;16567619;16574651;16826428;17081983;17128415;17192406;17505058;17545633;17804729;17893145;18079323;18261753;18505929;18559538;18682536;18950845;19048289;19321449;19394292;19471022;19478391;19495959;19596686;19738201;19800002;19946888;20195357;20442285;20448663;21139048;21182205;21252943;21326211;21421858;21549307;21693764;21695158;21735116;21906983;21963094;22082156;22086908;22190735;22403175;22586326;22797925;22939629;22963397;22990118;22992812;23486015;23497172;23667531;23975430;24250222;24332808;24457600;24639526;24752897;24816145 27043 B4DEX7;B4DR36;C9JFV4;E7EV54;I3L1P4;I3L3A8;I3L445;I3L4M7;I3L4P1;Q8IZL8 ABBA01054772;AC091153;AF547989;AI927300;AK226056;AK291163;AK293838;AK299084;AMYH02032830;AMYH02032831;AY882602;BC002875;BC010457;BC039131;BC069058;BI752899;CH471108;DC417876;NM_001278241;NM_014389;U88153;U88154;XM_006721503 AAC17708;AAC17709;AAH02875;AAH10457;AAH69058;AAN41255;AAW80659;BAF83852;BAG57238;BAG61148;EAW90424;EAW90425;EAW90426;NP_001265170;NP_055204;Q8IZL8;XP_006721566 Hs.744899 HMX3;MNAR;P160 modulator of non-genomic activity of estrogen receptor;modulator of nongenomic activity of estrogen receptor;proline and glutamic acid rich nuclear protein;proline, glutamic acid and leucine rich protein 1;proline-, glutamic acid- and leucine-rich protein 1;proline-, glutamic acid-, leucine-rich protein 1;transcription factor HMX3 APPROVED protein-coding ENSG00000141456 HGNC:30134 10144 609455 REVIEWED 1352533 PER3 period circadian clock 3 This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014] 1 1 1 p36.23 6952489 7012918 + 7844413 7905241 + 7784340 7845181 + 1580863;6480464;8554872 10428031;10837028;10899319;11306557;11865049;12477932;12655319;14701732;14712925;14750904;15475734;15700718;15790588;15800623;16528748;16710414;16999817;17309758;17346965;17451453;17512705;17984998;18444243;18517031;18714788;18789374;18835917;18854154;18990770;19013183;19328558;19360490;19444755;19516903;19553435;19693801;19716732;19839995;19861640;19913121;19926609;19934327;19967263;20072116;20149345;20174623;20360068;20364331;20469812;20625127;20628086;20978934;21070773;21102463;21176035;21316201;21411511;21459569;21559414;21714069;21729600;21919721;22169200;22188742;22217103;22324552;22350604;22467995;22543063;22689435;22809120;22881285;22942500;22971169;22976125;23171222;23323702;23524621;23546644;23606611;23969301;24150227;24903750;7622044;9427249 8863 A2I2N5;P56645;Q8TAR6 AB047521;AB047530;AB047531;AB047532;AB047533;AB047534;AB047686;ABBA01035490;ABBA01035491;AK299123;AK307760;AK308303;AL157954;AMYH02000197;AMYH02000198;AMYH02000199;AY493418;BC026102;BC111010;BC144137;BC146781;CH471130;CN480408;EF015893;HY151851;NM_001289861;NM_001289862;NM_001289863;NM_001289864;NM_016831;XM_005263520;XM_005263521;XM_005263522;XM_005263523;XM_005263524;XM_005263527;XM_005263528;XM_005263529;Z98884 AAH26102;AAI11011;AAI46782;AAS72879;ABM64204;ADZ15752;BAB32925;BAB63250;BAB63251;BAB63252;BAB63253;BAB63254;BAB63255;BAG61177;CAB76084;EAW71583;EAW71584;EAW71585;EAW71586;NP_001276790;NP_001276791;NP_001276792;NP_001276793;NP_058515;P56645;XP_005263577;XP_005263578;XP_005263579;XP_005263580;XP_005263581;XP_005263584;XP_005263585;XP_005263586 Hs.162200 1688392;1691946;1732866;1750079;1797982;1857286;1858076;2118212;2164881;2181982;5119835;5123883 AL033593;D1S1294;D1S3614;GDB:182522;PER3_1734;RH93635;SHGC-112332;SHGC-53173;SHGC-74162;SHGC-74167;SHGC-74175;SHGC-74176 GIG13;hPER3 OTTHUMP00000001353;OTTHUMP00000001354;cell growth-inhibiting gene 13 protein;circadian clock protein PERIOD 3;growth-inhibiting protein 13;period 3;period circadian protein 3;period circadian protein homolog 3;period homolog 3 APPROVED protein-coding ENSG00000049246 HGNC:8847 09138 603427 REVIEWED 1342716 PERQ2 PERQ amino acid rich, with GYF domain 2 59281 HGNC:13642 1349050 PER1 period circadian clock 1 This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014] 17 17 17 p13.1 8071402 8083393 - 8043788 8059723 - 8140470 8156405 - 1580863;6480464;8554872 10531061;10790862;10837028;10848614;10857746;10940553;11119726;11165242;11306557;11597585;11726537;11865049;12477932;12782655;12893774;12916719;14645221;14712925;14750904;15781181;15790588;15800623;15917222;16344560;16528748;16678109;16757810;17051316;17081983;17106427;17264841;17274950;17440215;17463251;17592726;17621597;17699798;17718421;17971899;17984998;17994337;18095154;18228528;18321934;18411297;18444243;18480551;18821565;18990770;19013183;19058789;19148895;19296127;19675098;19693801;19752089;19839995;19861640;19912323;19923301;19934327;20072116;20174623;20360068;20481271;20541418;20861012;20978934;21380491;21411511;21459569;21988832;22217103;22801371;22990118;23000965;23034908;23129285;23133559;23242607;23405233;23455922;23503662;23546644;23584858;23752693;24005054;24154698;24250222;24449901;24722188;9323128;9333243;9427249;9455484;9856465 5187 J3KRL7;J3KSL6;J3KTM2;J3QL46;J3QL55;J3QLQ5;J3QSH9;O15534 AB002107;AB030817;AB088477;ABBA01054897;AC129492;AF022991;AF102137;AF284444;AI952483;AK291061;AK295410;AMYH02032920;BC028207;BC072458;BC137346;BC144593;CH471108;DA411574;DA835861;NM_002616;XM_005256689;XM_005256690 AAC51765;AAF15544;AAG01149;AAH72458;AAI37347;BAA22633;BAA94085;BAC06326;BAF83750;BAG58361;EAW90088;EAW90089;EAW90090;EAW90091;NP_002607;O15534;XP_005256746;XP_005256747 Hs.445534 1681257;2110643;2176232;2189417;5037744 D1S3694;MARC_5483-5484:991951035:2;PER1_374;RH98396;STS-N78772 MGC88021;PER;hPER;hPER1 Period, drosophila, homolog of;RIGUI;circadian clock protein PERIOD 1;circadian pacemaker protein RIGUI;period circadian protein homolog 1;period homolog 1 APPROVED protein-coding ENSG00000179094 HGNC:8845 03774 602260 REVIEWED 1354493 PEPD peptidase D This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 19 19 19 q13.11 30571427 30706398 - 33877855 34012799 - 33386949 33521893 - 1580863;6480464;7240710;8554872;8699517 10965990;11820613;11840567;12384772;12477932;14702039;15302935;15309682;15489334;15878628;16097034;16713569;16999949;17096092;17142620;17377743;17570078;17604013;17999410;18202846;18330356;18387361;18514097;18550075;18607169;18989777;19056867;19263194;19401414;1972707;19823062;20087956;20383038;20437180;20486204;20626024;20868675;21044950;21139048;21145461;21304409;21722016;21906983;21988832;22053931;22158537;22185542;22245250;22258852;22479202;22581228;22811354;22863883;22999980;23163753;23171426;23212918;23242638;23287645;23457135;23516557;23549681;23553128;2365824;24065222;24097068;24105470;24654937;2705457;2881880;2925654;8125298;8198124;8900231;9020526;9328822 5184 K7ES25;P12955;V9GY89;V9GYE4;V9GYL0 ABBA01004306;ABBA01004307;ABBA01004308;ABBA01004309;ABBA01004310;ABBA01012594;AC008744;AC010485;AK057538;AK225037;AK290756;AK290781;AK291561;AK293126;AK294619;AMYH02035938;AW512991;BC004305;BC015027;BC028295;BT006692;CR541669;DC385464;DC395475;J04605;KF456560;M35496;NG_013358;NM_000285;NM_001166056;NM_001166057 AAA60064;AAH04305;AAH15027;AAH28295;AAP35338;ABM82040;ABM85220;BAF83445;BAF83470;BAF84250;BAG56678;BAG57802;CAG46470;NP_000276;NP_001159528;NP_001159529;P12955 Hs.36473 1341467;1659235;1743625;1743835;1743837;1754225;2126943;2148128;2156398;2187418;2219486;5120606;5120608;5120610;5120612 D19S1004;D19S719;GDB:362655;GDB:362661;GDB:362665;GDB:362670;GDB:362675;GDB:374532;GDB:374535;PEPD__5665;RH11766;RH47236;SHGC-132252;SHGC-33750;STS-W87536 MGC10905 X-Pro dipeptidase;aminoacyl-L-proline hydrolase;imidodipeptidase;prolidase;proline dipeptidase;xaa-Pro dipeptidase APPROVED protein-coding ENSG00000124299 HGNC:8840 01358 170100;613230 REVIEWED 1352026 PERQ3 PERQ amino acid rich, with GYF domain 3 59280 HGNC:13643 6484108 PES1P2 pescadillo ribosomal biogenesis factor 1 pseudogene 2 9 9 9 p23 13918822 13920814 + 13986118 13988110 + 13986119 13988111 + 347193 ABBA01065306;AL360089;AMYH02019186;NG_021640 pseudo HGNC:44059 INFERRED 5688594 PET117 PET117 homolog (S. cerevisiae) FOUND IN mitochondrion; INTERACTS WITH valproic acid 20 20 20 p11.23 18193220 18198534 + 18118499 18169016 + 18137855 18143169 + 6480464 12975309;22356826;24816145;8889548 100303755 L0R6F6;Q6UWS5 ABBA01054043;AL050321;AMYH02036775;AMYH02036776;AY358666;BI601826;BM984163;CS072292;HF548004;NM_001164811 AAQ89029;CAI93430;CCO13715;NP_001158283;Q6UWS5 Hs.488051 1666274;2143674 D20S1140;STS-N40959 CSRP2BP alternative protein CSRP2BP;cytochrome c oxidase assembly factor-like;protein PET117 homolog, mitochondrial protein-coding ENSG00000232838 HGNC:40045 614771 VALIDATED 6484109 PES1P1 pescadillo ribosomal biogenesis factor 1 pseudogene 1 4 4 4 q28.3 132587673 132589670 + 135248148 135250145 + 134326993 134328990 + 345016 ABBA01044877;AC096748;AC109830;AMYH02010142;NG_022080 1718273 RH122908 pseudo HGNC:44058 INFERRED 5135069 PET100 PET100 homolog (S. cerevisiae) Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] 19 19 19 p13.2 7565855 7567694 + 7694671 7696510 + 7629785 7631624 + 6480464;7240710;8699517 12477932;14702039;16712791;21906983;21963094;22356826;24462369;8889548 100131801 M0QZ55;M0R022;P0DJ07 ABBA01010893;ABBA01010894;AC008763;AK124717;AMYH02035403;AW009489;BC150496;BU740873;CB119056;CD641681;CH471139;NG_034117;NM_001171155;NR_033242 EAW69020;NP_001164626;P0DJ07 Hs.728837 2157807 SHGC-35712 C19orf79;FLJ42727 hypothetical protein LOC100131801;protein PET100 homolog, mitochondrial;uncharacterized protein C19orf79 APPROVED protein-coding HGNC:40038 220110;614770 REVIEWED 1319563 PEX10 peroxisomal biogenesis factor 10 This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p36.32 242696 250465 + 2336241 2344010 - 2404802 2412571 - 1580863;6480464;7240710;8699517;8554872 10562279;10704444;10837480;10862081;11390669;12096124;12477932;14702039;14713216;15231747;15489334;16344560;16710414;19105186;19549727;20301621;20695019;21525035;22002062;22197933;22493164;22733822;22990118;24501781;9683594;9700193;9922452 5192 D6RA89;D6RBB0;D6RIF5;J3KRE0;J3QRM4;O60683 AB013818;ABBA01016095;AF060502;AK124816;AL513477;AMYH02000123;BC000543;BC018198;CH471183;CR542077;DA439481;NG_008342;NM_002617;NM_153818 AAC18133;AAH00543;AAH18198;ABM82887;ABM86077;BAA87895;BAG54100;CAG46874;EAW56105;EAW56106;EAW56107;EAW56108;NP_002608;NP_722540;O60683 Hs.732228 1335601;1646801;1796504;2137747;5019034 D20S185;G43268;PEX10_1028;SHGC-30638;SHGC-74114 MGC1998;NALD;PBD6A;PBD6B;RNF69 OTTHUMP00000001658;OTTHUMP00000221357;OTTHUMP00000221358;RING finger protein 69;peroxin 10;peroxin-10;peroxisome assembly protein 10;peroxisome biogenesis factor 10 APPROVED protein-coding ENSG00000157911 HGNC:8851 04175 202370;214100;602859;614870;614871 REVIEWED 737181 PER2 period circadian clock 2 This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014] 2 2 2 q37.3 232865233 232909762 - 239152679 239198678 - 238244038 238290102 - 1600411;1580863;6480464;7240710;8554872;8699517 11232563 10428031;10531061;10837028;10848614;11076863;11165242;11533252;12372299;12477932;12565145;14712925;14750904;15790588;15800623;15815621;15985538;16097765;16120104;16338760;16344560;16519674;16528748;17106427;17218255;17274950;17440215;17457720;17463251;17599055;17971899;18430226;18444243;18505821;18517031;18518968;18575464;19013183;19058789;19106159;19299560;19322201;19470168;19500131;19605937;19693801;19714310;19839995;19913121;19916842;19926610;19934327;19957060;20072116;20174623;20180986;20187847;20360068;20396431;20481271;20497782;20554694;20628086;20886252;20931356;20978934;21050724;21324900;21380491;21411511;21463335;21814225;21890473;21990077;22081238;22105622;22137505;22166120;22217103;22260161;22504483;22623394;22634208;22832851;22905719;22939700;22984121;23003921;23533602;23546644;23593233;23606611;23836662;23880009;23969301;24062075;24202686;25103245;7592751;9205841;9349507;9427249;9856465 8864 E9PD89;O15055 AB002345;AB012614;ABBA01042605;AC012485;AK294876;AK304108;AMYH02006072;AY647991;CH471063;DA226434;EF015905;NG_012146;NM_022817;XM_005246111;XM_006712824 AAI11454;AAT68170;AAX88976;ABM64216;BAA20804;BAA83709;BAG57975;BAG65011;EAW71153;EAW71154;EAW71155;NP_073728;O15055;XP_005246168;XP_006712887 Hs.58756 2108865;2133400;5015861;5015961;5022651;5037552;7185938 D10S16;D11S2921;D15S1477;D8S2279;PER2_3226.2;SHGC-52384 FASPS;FASPS1;KIAA0347;hPER2 OTTHUMP00000164476;circadian clock protein PERIOD 2;period 2;period circadian protein 2;period circadian protein homolog 2;period homolog 2 APPROVED protein-coding ENSG00000132326 HGNC:8846 04575 603426;604348 REVIEWED 1345815 PES1 pescadillo ribosomal biogenesis factor 1 This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011] 22 22 22 q12.1 14772326 14802877 - 30972612 31003000 - 30576625 30607013 - 1580863;6480464 10591208;11071894;11337467;11790298;12022229;12429849;12477932;14702039;15225545;15273728;15461802;15467761;15489334;15635413;16043514;16344560;16738141;17353269;17353931;18781797;19454010;19471022;19596686;19764998;19946888;20011973;21139048;21145461;21693764;21890473;21906983;21963094;22505724;22586326;22623531;22751105;22797925;22820289;22860098;22863883;22939629;23000965;23333390;23752268;24376209;24457600;24816145;8985183;9847074 23481 B2RDF2;B3KTZ6;B3KXD6;B5MCF9;H7BYY8;H7C267;O00541 AB451380;ABBA01055303;AC005006;AK096320;AK125778;AK127185;AK315518;AMYH02038218;AU098520;AU130886;BC032489;BQ576244;CH471095;CR456539;NM_001243225;NM_001282327;NM_001282328;NM_014303;U78310;XM_006724173 AAB61140;AAH32489;BAC86285;BAG37899;BAG53258;BAG54448;BAG70194;CAG30425;CAK54570;CAK54869;EAW59904;EAW59905;EAW59906;NP_001230154;NP_001269256;NP_001269257;NP_055118;O00541;XP_006724236 Hs.517543 1677228 RH91560 FLJ43790;PES OTTHUMP00000199068;OTTHUMP00000199070;OTTHUMP00000199071;OTTHUMP00000199072;OTTHUMP00000199073;pescadillo homolog;pescadillo homolog 1, containing BRCT domain APPROVED protein-coding ENSG00000100029 HGNC:8848 05783 605819 REVIEWED 1321208 PEX11B peroxisomal biogenesis factor 11 beta The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012] 1 1 1 q21.1 119719522 119727100 + 145516165 145523732 + 145911348 145918924 - 1580863;6480464;8699517;7240710;8554872 10704444;11390669;12096124;12477932;12618434;14702039;14709540;15489334;16344560;16712791;17408615;19229552;19946888;20826455;20877624;21139048;21906983;22581968;22581969;23275563;23308220;24163370;24816145;9792670;9826565;9922452 8799 H7C3V6;O96011 AB018080;ABBA01005742;AC243547;AF093670;AK023991;AK094173;AK301983;AL160282;AW162134;BC011963;BG423552;BG435901;CB155824;CH471244;CR542047;DA157450;DA175538;DB054933;HY108328;NG_033000;NM_001184795;NM_003846;NR_073491;NR_073492;NR_073493 AAC78660;AAH11963;BAA34812;BAG51247;BAG52835;BAG63391;CAG46844;EAW71422;EAW71423;NP_001171724;NP_003837;O96011 Hs.714608 1770952;1794784;1795210;5037552;5118800 D11S3663;D8S2279;PEX11B_1032;PMC55504P1;WI-18366 PEX11-BETA;PEX14B OTTHUMP00000015598;peroxin-11B;peroxisomal biogenesis factor 11B;peroxisomal membrane protein 11B;protein PEX11 homolog beta protein-coding ENSG00000131779 HGNC:8853 04844 603867;614920 REVIEWED 5129248 PEX12P1 peroxisomal biogenesis factor 12 pseudogene 1 13 13 13 q31.3 71489259 71490611 + 90643797 90645149 + 89991543 89992895 + 121727 ABBA01027253;AL359842;AMYH02028457;NG_011336 pseudo HGNC:39678 INFERRED 1346322 PEX1 peroxisomal biogenesis factor 1 This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013] 7 7 7 q21.2 86820874 86862377 - 92116337 92157845 - 92487020 92528531 - 1580863;6480464;7240710;8554872;8699517 10447258;11439091;12032265;12126625;12402331;12477932;12690205;12717447;12840548;12853948;15098234;15328346;15489334;15502339;16086329;16088892;16141001;16257970;16344560;16449325;16854980;17370265;18029348;18391951;19105186;20301621;20546612;21252943;21846392;21890473;21906983;22505724;23247051;23443559;24501781;24816145;2606480;9398847;9398848;9447990;9539740;9588209;9671729 5189 B4DER6;B4DEY5;E9PE75;H7BZH3;O43933 AA490966;AB008112;AB052090;AB052091;AB052092;AB052093;AB052094;AB209355;ABBA01045802;AC000064;AC007566;AF026086;AF030356;AI377121;AK292955;AK293757;AK293848;AK295686;AMYH02016265;BC035575;CH236949;CH471091;DA313282;DB461678;DC370317;KF458517;NG_008341;NM_000466;NM_001282677;NM_001282678;XM_005250429;XM_005250433;XR_242246 AAB46346;AAB87880;AAB99758;AAH35575;ABM81847;BAA85162;BAB59061;BAB59062;BAB59063;BAB59064;BAB59065;BAD92592;BAF85644;BAG57177;BAG57246;BAG58539;EAL24149;EAL24151;EAW76840;EAW76841;EAW76842;EAW76843;EAW76844;NP_000457;NP_001269606;NP_001269607;O43933;XP_005250486;XP_005250490 Hs.164682 1654660;1665953;1688265;1789338;5014039;5022578;5114515 D1S1423;D22S1584;G31804;G67887;RH45033;RH92096;SHGC-56142 PBD1A;PBD1B;ZWS;ZWS1 OTTHUMP00000161972;OTTHUMP00000209039;OTTHUMP00000209040;Zellweger syndrome;peroxin-1;peroxisome biogenesis disorder protein 1;peroxisome biogenesis factor 1 APPROVED protein-coding ENSG00000127980 HGNC:8850 03682 202370;214100;266510;601539;602136 REVIEWED 1322796 PEX16 peroxisomal biogenesis factor 16 The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 46078825 46087276 - 45931220 45939674 - 45909669 45918123 - 1580863;6480464;7240710;8699517;8554872 10704444;11390669;11890679;12096124;12223482;12477932;14709540;15146197;15489334;15713480;15813749;16341674;16717127;17207965;19114594;19479899;19946888;20301621;20531392;20647552;21145461;21525035;21768384;24144296;24501781;9837814;9922452 9409 E9PLS4;E9PMM3;E9PMS3;E9PP98;E9PQW0;E9PSC6;Q9Y5Y5 AB016531;ABBA01060757;ABBA01060758;AC068385;AF118240;AMYH02024693;BC000467;BC004356;BM746616;CH471064;CN285513;NG_008460;NM_004813;NM_057174 AAD22466;AAH00467;AAH04356;ADQ32359;BAA88826;EAW68022;EAW68023;EAW68024;NP_004804;NP_476515;Q9Y5Y5 Hs.100915 PBD8A;PBD8B OTTHUMP00000234739;OTTHUMP00000234740;OTTHUMP00000234741;peroxin 16;peroxin-16;peroxisomal membrane protein PEX16;peroxisome biogenesis factor 16 APPROVED protein-coding ENSG00000121680 HGNC:8857 04526 603360;614876;614877 REVIEWED 1316043 PEX11G peroxisomal biogenesis factor 11 gamma The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 19 19 19 p13.2 7414267 7426410 - 7541756 7555884 - 7472547 7491000 - 1580863;6480464 12417726;12477932;12559946;15489334;20826455;24250222 92960 M0R328;Q96HA9 AB095921;ABBA01010901;AC008878;AL833945;AMYH02035397;AW779397;BC008780;BI833221;CH471139;HY002496;NM_001270539;NM_001300881;NM_080662;XM_005272506;XM_005272507;XM_006722937 AAH08780;ADZ15363;BAD01558;CAD38800;EAW69037;EAW69038;NP_001257468;NP_001287810;NP_542393;Q96HA9;XP_005272563;XP_005272564;XP_006723000 Hs.515100 1701368 RH104314 MGC4281 PEX11-gamma;Pex11pgamma;peroxin Pex11p gamma;peroxin-11C;peroxisomal biogenesis factor 11C;peroxisomal biogenesis factor 11G;peroxisomal membrane protein 11C;protein PEX11 homolog gamma APPROVED protein-coding ENSG00000104883 HGNC:20208 16250 607583 REVIEWED 1348303 PEX11A peroxisomal biogenesis factor 11 alpha This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] 15 15 15 q26.1 66629060 66636731 - 90224762 90234015 - 89681531 89690784 - 1580863;6480464;8554872 10704444;11839773;12417726;12477932;14702039;15489334;16344560;16567422;17220199;18782765;20531392;20826455;21419861;9714566;9792670;9922452 8800 B2R8C6;B4DMF6;H0YMC7;H0YN61;O75192 AB015594;ABBA01053019;AC013787;AF093668;AI494060;AK001415;AK297442;AK300978;AK313318;AL109728;AL360141;AMYH02031026;BC009697;BC101164;BC114384;CH471101;CR542046;CR542075;DA773492;NM_001271572;NM_001271573;NM_003847 AAC78658;AAH09697;AAI01165;AAI14385;ABM84294;ABM87685;ABM87686;ABM87687;ABW03601;BAA32533;BAG36123;BAG50908;BAG59868;BAG62600;CAG46843;CAG46872;EAX02062;NP_001258501;NP_001258502;NP_003838;O75192 Hs.31034 1667372;1698530;1857165;2122433 G31006;RH102816;RH77793;STS-H53572 MGC119947;MGC138534;PEX11-ALPHA;PMP28;hsPEX11p 28 kDa peroxisomal integral membrane protein;OTTHUMP00000194685;peroxin-11A;peroxisomal biogenesis factor 11A;peroxisomal membrane protein 11A;protein PEX11 homolog alpha protein-coding ENSG00000166821 HGNC:8852 04843 603866 REVIEWED 1315796 PEX19 peroxisomal biogenesis factor 19 This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 1 1 1 q23.2 133315362 133323704 - 160246599 160254941 - 160276809 160285151 - 1580863;6480464;7240710;8699517;8554872 10051604;10704444;10777694;11259404;11390669;11402059;11453642;11590176;11883941;12096124;12154087;12477932;12581788;12924628;14558883;14709540;14713233;14715663;15007061;15231748;15252024;15489334;15713480;15781447;16189514;16280322;16344115;16459329;16582619;16763195;16791427;16895967;16980692;17069900;18174172;18782765;19114594;19195843;19197237;19322201;19715730;20301621;20531392;20554521;20615514;20683989;21102411;21139048;21525035;21890473;21906983;21963094;21987572;21988832;22053931;22505724;22624858;22939629;23000965;23457492;23460677;23956138;24501781;25007327;25036637;8076834;9339377;9418908 5824 B7Z6I5;B7Z8B3;E9PPB4;E9PS71;H0YDY4;P40855;Q5QNY5 AB018541;AB062286;ABBA01016613;AK300368;AK303099;AL513282;AMYH02002024;AY434724;BC000496;BC064979;BT006879;CB993363;CD557913;CH471121;DC400252;DC405033;NG_008637;NM_001193644;NM_002857;NR_036492;NR_036493;X75535;Y09048 AAH00496;AAP35525;ABM82343;ABM85517;BAA76291;BAB93469;BAH13271;BAH13899;CAA53225;CAA70257;EAW52727;EAW52728;EAW52729;NP_001180573;NP_002848;P40855 Hs.517232 1775814;1793730;2137312;2154279;2217730 PEX19_3422;PMC26746P1;RH67926;RH70904;WI-19186 D1S2223E;FLJ55296;HK33;PBD12A;PMP1;PMPI;PXF;PXMP1 33 kDa housekeeping protein;OTTHUMP00000031848;housekeeping gene, 33kD;peroxin-19;peroxisomal farnesylated protein APPROVED protein-coding ENSG00000162735 HGNC:9713 02610 214100;600279;614886 REVIEWED 68470 PEX14 peroxisomal biogenesis factor 14 This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 9646407 9802209 + 10535003 10690815 + 10474946 10630758 + 1580863;6480464;7240710;8699517;8554872 10022913;10198260;10212238;10562279;10704444;10837480;11863372;11865044;12096124;12477932;12488033;14702039;14715663;15146459;15489334;16169070;16344560;16449325;16710414;17081983;18285423;18346465;19197237;19460752;19584060;19913121;19946888;20301621;20379614;20395239;20628086;21139048;21525035;21890473;21906983;21976670;22002062;23000965;23535729;23535733;23817569;24235149;24501781;24816145;9653144 5195 K7EK59;O75381 AB017546;ABBA01035606;ABBA01035607;ABBA01035608;AF045186;AK002194;AK293684;AK298136;AK307416;AK307462;AK310726;AK313046;AL139423;AL354956;AL591403;AMYH02000269;AMYH02000270;AMYH02000271;AMYH02000272;AMYH02000273;BC006327;BC017848;BC054017;CH471130;CR450321;CR542083;DA494578;KF495862;NG_008340;NM_004565;XM_005263470;XM_006710685 AAC39843;AAH06327;AAH17848;ABM83701;ABM86831;BAA36837;BAG35878;BAG51028;BAH11568;BAH12730;CAG29317;CAG46880;EAW71659;EAW71660;EAW71661;NP_004556;O75381;XP_005263527;XP_006710748 Hs.149983 1334812;1336210;1781436;2155138;2168248;2180473;7187007 D1S244;D1S2736;D1S401;SGC38258;SHGC-111497;SHGC-74203 MGC12767;NAPP2;PBD13A;Pex14p;dJ734G22.2 NF-E2 associated polypeptide 2;OTTHUMP00000001902;PTS1 receptor docking protein;PTS1 receptor-docking protein;peroxin-14;peroxisomal membrane anchor protein PEX14;peroxisomal membrane anchor protein Pex14p;peroxisomal membrane protein PEX14 APPROVED protein-coding ENSG00000142655 HGNC:8856 03477 214100;601791;614887 REVIEWED 1349650 PEX2 peroxisomal biogenesis factor 2 This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 8 8 8 q21.1 73885870 73906661 - 77892494 77913280 - 76980258 77001044 - 1580863;6480464;7240710;8699517;8554872 10528859;10837480;10891359;11590176;12477932;12751901;1426230;15342556;1546315;15489334;15542397;16169070;16344560;1750930;18391951;18987311;19946888;20301621;20379614;20546612;20881960;21102462;21392394;21525035;21658281;21832049;21903356;22002062;24501781;2454948;7600573;7681622;8020947;8858157;9452066;9765053 5828 E5RIW9;P28328 ABBA01041999;AC090810;AF133823;AF133824;AF133825;AF133826;AK312997;AMYH02018257;BC000661;BC005375;BC093043;BP193912;BU561273;BX093361;CH471068;DA210382;M85038;M86852;NG_008371;NM_000318;NM_001079867;NM_001172086;NM_001172087 AAA60141;AAC12785;AAF97687;AAH00661;AAH05375;AAH93043;ABZ92521;BAG35833;EAW87052;NP_000309;NP_001073336;NP_001165557;NP_001165558;P28328 Hs.437966 1657710;1675184;2131107;2141879;2146470;2217878;5016781;5037552 D8S2279;PXMP3_3423;RH46966;SHGC-67307;STS-H95082;STS-M85038;STS-R88992;WI-17451 PAF-1;PAF1;PBD5A;PBD5B;PMP3;PMP35;PXMP3;RNF72;ZWS3 35 kDa peroxisomal membrane protein;OTTHUMP00000226907;OTTHUMP00000226908;OTTHUMP00000226909;OTTHUMP00000226911;RING finger protein 72;peroxisomal membrane protein 3, 35kDa;peroxisome assembly factor 1;peroxisome assembly factor-1;peroxisome biogenesis factor 2 APPROVED protein-coding ENSG00000164751 HGNC:9717 01367 170993;266510;614866;614867 REVIEWED 1350248 PEX26 peroxisomal biogenesis factor 26 This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010] 22 22 22 q11.21 2180325 2191835 + 18560686 18573797 + 18077920 18091031 + 6480464;7240710;8699517;8554872 10591208;12477932;12717447;12851857;14702039;15342556;15461802;15489334;15542397;15713480;15858711;16189514;16257970;16344560;16763195;16854980;19105186;19322201;20301621;20531392;21139048;23460677;24501781 55670 E9PRC5;Q7Z2D7;Q7Z412 AB089678;AB103104;AB103105;AB103106;AB103107;AB103108;AB103109;AB103110;AB242826;AB242827;AB242828;AB242829;AB242830;ABBA01001421;ABBA01001422;AC016027;AI375247;AI636019;AK000065;AK000702;AMYH02038020;BC016280;BC047320;BG257217;BG910944;BP270408;CA433324;CB989626;CH471193;CR456362;DA164404;NG_008339;NM_001127649;NM_001199319;NM_017929 AAH16280;AAH47320;BAA90920;BAA91329;BAC66616;BAC78802;BAC78803;BAC78804;BAC78805;BAC78806;BAC78807;BAC78808;BAE72692;BAE72693;BAE72694;BAE72695;BAE72696;CAG30248;CAK54504;CAK54803;EAW57782;EAW57783;EAW57784;NP_001121121;NP_001186248;NP_060399;Q7Z412 Hs.517400 1667406;1699678;1796508;2116251;2120150;5016596;5022651;5037552 D11S2921;D22S967E;D8S2279;GDB:631802;PEX26_1033;RH103444;RH47117;SHGC-32781 FLJ20695;PBD7A;PBD7B;PEX26M1T;Pex26pM1T OTTHUMP00000195597;OTTHUMP00000195598;OTTHUMP00000195599;peroxin-26;peroxisome assembly protein 26;peroxisome biogenesis disorder, complementation group 8;peroxisome biogenesis disorder, complementation group A;peroxisome biogenesis factor 26 APPROVED protein-coding ENSG00000215193 HGNC:22965 10559 202370;214100;266510;608666;614872;614873 REVIEWED 1321726 PEX13 peroxisomal biogenesis factor 13 This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008] 2 2 2 p16.1 61088403 61122717 + 61244812 61279125 + 61017677 61051990 + 1580863;6480464;7240710;8699517;8554872 10087260;10332040;10441330;10441568;10704444;11390669;11402059;11829486;11865044;12096124;12477932;14715663;15146197;15489334;16006427;16344560;16449325;17207965;17474147;17881773;18067320;18155796;19449432;19946888;20301621;20531392;21525035;21906983;22002062;22412388;23716570;24501781;8858165;9094717;9653144;9878256 5194 B5MBY9;D3YTD3;G5E9N6;Q92968 AB022192;ABBA01075341;ABBA01075342;AC010733;AC074249;AF048755;AK315244;AMYH02003917;BC067090;CH471053;CN288682;DB102467;NG_008665;NM_002618;U71374 AAC39844;AAD05572;AAH67090;ADQ32886;BAA88907;BAG37668;EAX00017;EAX00018;EAX00019;EAX00020;EAX00021;NP_002609;Q92968 Hs.161377 1797984;2171500;2182045;5014051;5014740;5015621;5015861;5016478;5016596;5019070;5022200;5022322;5022578;5022651;5037552;7185938 D10S16;D11S2560;D11S2921;D11S3732;D17S610;D1S1423;D8S2278;D8S2279;G44334;GDB:434012;GDB:631802;L18426;PEX13_2120;RH68509;SHGC-34053 NALD;PBD11A;PBD11B;ZWS OTTHUMP00000159791;peroxin-13;peroxisomal membrane protein PEX13;peroxisome biogenesis factor 13 APPROVED protein-coding ENSG00000162928 HGNC:8855 03475 202370;214100;601789;614883;614885 REVIEWED 6481319 PEX5L-AS1 PEX5L antisense RNA 1 q26.33 100874040 AC092939 APPROVED ncrna HGNC:41251 5144692 PEX5L-AS2 PEX5L antisense RNA 2 3 179616017 179639683 + 100505598 XR_108517;XR_133357 1709488 SHGC-81798 APPROVED ncrna HGNC:41252 731687 PEX12 peroxisomal biogenesis factor 12 This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] 17 17 17 q12 30811949 30815791 - 33901814 33905656 - 35574795 35578637 - 729522;1580863;6480464;7240710;8699517;8554872 9632816 10562279;10704444;10837480;11390669;12096124;12456682;12477932;14571262;15241794;15489334;16344560;16813573;17534573;19105186;20301621;21525035;22002062;24501781;9090384;9354782;9792670;9792857;9922452 5193 K7ELY8;O00623 AB004546;ABBA01011230;AC015911;AI341587;AK312635;AMYH02033350;BC015751;BC031085;CH471147;DA298874;NG_008447;NM_000286;U91521;U91522 AAC68812;AAC68813;AAH15751;AAH31085;ABM85048;BAA31559;BAG35519;EAW80143;NP_000277;O00623 Hs.591190 1734492;1796506 D17S1445E;PEX12_376 PAF-3;PBD3A OTTHUMP00000163882;peroxin 12;peroxin-12;peroxisome assembly factor 3;peroxisome assembly protein 12 APPROVED protein-coding ENSG00000108733 HGNC:8854 03455 266510;601758;614859 REVIEWED 735657 PF4 platelet factor 4 This gene encodes a member of the CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. [provided by RefSeq, Mar 2012] 4 4 4 q12-q21 72206939 72207858 - 74846542 74847841 - 73980825 73982124 - 1580863;6480464 10233851;10464257;10666185;11083865;11468158;11685038;11830470;11986215;12041672;12097379;12193731;12223528;12384403;12466273;12477932;12586630;12609838;12732210;12782716;12878486;14575696;14592823;14652645;14718574;15034805;15187018;15265941;15291808;15304392;15459010;15489334;15531763;15591119;15622770;15728475;15788441;15815621;15964840;15994292;16304054;16317101;16806233;16881736;1688470;1695112;17077331;17090548;17192395;17218382;17220270;17244792;17265155;17381065;17636189;17675521;17700216;17703412;17827342;17914028;17998245;18000592;18240029;18369708;18539895;18577758;18632422;18648521;18797178;19201759;19245795;19258923;19397833;19416867;19470732;19625657;19750196;19773294;19805618;19910578;19911252;19913121;20050998;20104488;20182908;20185595;20503287;20539902;20626620;20628086;20688960;20961394;20979952;21041299;21088050;21111666;21129147;2140694;21508508;21693026;21931859;22088491;22235911;22318669;22402885;22577175;22645343;22682144;22740477;22763266;22916037;23128233;23216710;23224555;23352833;23611535;23621699;23634812;23701307;23769097;23848403;24023389;24097975;24177324;267922;2834384;3098319;3622011;5789664;601757;6187750;6445090;6945600;7524669;7547867;7835432;8031770;803847;8511754;8613703;893407;9395524;9531587;9558385 5196 P02776 ABBA01022994;AC097709;AF349466;AJ705588;AMYH02009472;BC093965;BC112093;CH471057;CR407677;GD143506;M25897;NG_032897;NM_002619;XM_005265696 AAA60066;AAH93965;AAI12094;AAK29643;AAY41003;CAG28605;EAX05694;NP_002610;P02776;XP_005265753 Hs.81564 1658472;2149824;5091253;5492495;5492939 SHGC-50926;SHGC-59547;SHGC-67990;UniSTS:481307;UniSTS:483297 CXCL4;MGC138298;PF-4;SCYB4 C-X-C motif chemokine 4;OTTHUMP00000160478;chemokine (C-X-C motif) ligand 4;iroplact;oncostatin-A APPROVED protein-coding HGNC:8861 01426 173460 REVIEWED 1345397 PEX5L peroxisomal biogenesis factor 5-like ENCODES a protein that exhibits peroxisome matrix targeting signal-1 binding; peroxisome targeting sequence binding; small GTPase binding; INVOLVED IN regulation of cAMP-mediated signaling (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol; receptor complex; INTERACTS WITH formaldehyde; kojic acid; methyl methanesulfonate 3 3 3 q26.33 177948972 178186430 - 179512746 179754841 - 179794958 180037053 - 737633;6480464;8554872 12477932 11463335;15302887;15489334;16344560;18346465;19460752;20379614;21490949;21504900;22550182;23077068;24250222;24451387 51555 B7Z219;C9IZ09;C9JB85;C9JUZ5;C9JZE2;Q8IYB4 AB032592;AB032593;ABBA01058526;ABBA01058527;ABBA01058528;ABBA01058529;ABBA01058530;AC007687;AC090024;AC092939;AF088015;AJ245503;AK294227;AK294501;AK295349;AK295386;AK299633;AK303716;AK314283;AL831863;AMYH02008230;AMYH02008231;AMYH02008232;BC036183;CH471052;DA772743;DB175967;NM_001256750;NM_001256751;NM_001256752;NM_001256753;NM_001256754;NM_001256755;NM_001256756;NM_016559;XM_005247524;XM_005247526;XM_006713656 AAH36183;BAA92878;BAA92879;BAG36942;BAH11705;BAH11791;BAH12041;BAH12054;BAH13081;BAH14028;CAC01120;EAW78380;EAW78381;EAW78382;NP_001243679;NP_001243680;NP_001243681;NP_001243682;NP_001243683;NP_001243684;NP_001243685;NP_057643;Q8IYB4;XP_005247581;XP_005247583;XP_006713719 Hs.235331 1646373;1646375;1649649;1657932;1709488;1735326;1771440;1787514;2139459;2152020;2172208;2185652;2217732;5015861;5015961;5017170;5022322;5093200;5109281;7185938 A001U05;A009J18;D10S16;D11S2560;D15S1477;D1S1425;D3S2953E;G09565;G19649;G32579;L29953;PEX5R_3590;RH78237;SHGC-155438;SHGC-32469;SHGC-37366;SHGC-37398;SHGC-81798;WI-16592 DKFZp761J2017;PEX5R;PEX5RP;PXR2;PXR2B;TRIP8b OTTHUMP00000212019;OTTHUMP00000212020;OTTHUMP00000212021;OTTHUMP00000212022;OTTHUMP00000212023;OTTHUMP00000212024;OTTHUMP00000212025;OTTHUMP00000212026;OTTHUMP00000212027;PEX2-related protein;PEX5-like protein;PEX5-related protein;Pex5p-related protein;peroxin-5-related protein;peroxisome biogenesis factor 5-like;tetratricopeptide repeat-containing Rab8b-interacting protein protein-coding ENSG00000114757 HGNC:30024 11425 611058 VALIDATED 734166 PEX6 peroxisomal biogenesis factor 6 This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. [provided by RefSeq, Oct 2008] 6 6 6 p21.1 44483862 44499224 - 42931611 42946981 - 42963873 42979243 - 1580863;729462;6480464;7240710;8699517;8554872 7493019 10408779;11355018;11439091;11873320;12477932;12717447;14651998;15231748;15489334;16257970;16344560;16854980;19105186;19433277;19877282;20301621;21778671;21963094;21988832;22797925;22894767;24501781;8125298;8670792;8940266;9588209;9671729 5190 Q13608;Q8WYQ0;Q8WYQ1 AB051076;AB051077;AB051078;AB208906;ABBA01050700;ABBA01050701;ABBA01050702;AF108098;AK225704;AK314237;AL158815;AMYH02013636;AMYH02013637;BC033487;BC048331;BQ773648;CH471081;D83703;DA462214;DA755886;NG_008370;NM_000287;U56602;XM_005249180 AAC50655;AAF62564;AAH48331;BAA12069;BAB83046;BAB83047;BAB83048;BAD92143;BAG36906;EAX04125;EAX04126;EAX04127;EAX04128;EAX04129;NP_000278;Q13608;XP_005249237 Hs.656425 1666684;1739675;2136945;2148480;2178542;2180222 D6S1532E;RH46734;SHGC-34360;STS-D20352;STS-U56602;WI-17066 PAF-2;PAF2;PBD4A;PDB4B;PXAAA1 OTTHUMP00000016413;peroxin-6;peroxisomal AAA-type ATPase 1;peroxisomal-type ATPase 1;peroxisome assembly factor 2;peroxisome biogenesis factor 6 APPROVED protein-coding ENSG00000124587 HGNC:8859 03293 601498;614862;614863 REVIEWED 1352714 PEX3 peroxisomal biogenesis factor 3 The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] 6 6 6 q24.2 144512345 144552176 + 143771918 143811753 + 143450781 143490616 + 1580863;6480464;7240710;8699517;8554872 10430017;10679269;10704444;10848631;10958759;10968777;11390669;11883941;12096124;12477932;12924628;14574404;14702039;14713233;15007061;15342556;15489334;16189514;16280322;16344560;16895967;18029348;18174172;19479899;19715730;19946888;20301621;20554521;21102411;21139048;21525035;21890473;21906983;21963094;21987572;22053931;22624858;22939629;23000965;24501781;25007327;9657383;9922452 8504 P56589;Q7Z6V3 AB035307;ABBA01025747;ABBA01025748;AJ001625;AJ009866;AJ009867;AJ009868;AJ009869;AJ009870;AJ009871;AJ009872;AJ009873;AJ009874;AJ131389;AK023593;AK025644;AK300907;AL031320;AMYH02014634;AU137342;AY277600;BC014551;BC015506;BP377713;BX648803;CH471051;CR542062;DB576209;NG_008459;NM_003630 AAH14551;AAH15506;AAQ18039;BAA97993;BAG62543;CAA04879;CAA08904;CAA10362;CAG46859;EAW47866;NP_003621;P56589 Hs.592832;Hs.7277 1645362;1653585;1794558;1796510;2164672 AL021847;NIB250;PEX3_1035;PMC31832P1;RH66143 DKFZp686N14184;FLJ13531;PBD10A;TRG18 OTTHUMP00000017334;peroxin-3;peroxisomal assembly protein PEX3;transformation-related protein 18 APPROVED protein-coding HGNC:8858 04407 214100;603164;614882 REVIEWED 1312648 PFAS phosphoribosylformylglycinamidine synthase Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 8181466 8202639 + 8152596 8173809 + 8249255 8270491 + 1580863;5135485;5135276;6480464;6907045 3043317;6722784 10548741;12477932;1574589;17081983;17353931;19615732;20379614;20562859;21139048;21252943;21890473;21906983;21963094;21987572;22053931;22505724;22586326;22797925;22863883;22939629;24778252;24816145;25027693;8110788;9205841;9328467 5198 A8K9T9;H0YGH1;J3KT98;J3KTL4;J3KTQ5;J3QL39;J3QSG0;J3QSH6;O15067;Q6P4B4 AB002359;ABBA01054906;ABBA01054907;AC135178;AK292402;AK292804;AK295895;AL044326;AMYH02032923;BC006522;BC009318;BC031807;BC063538;BC146768;BC167158;CH471108;NM_012393;XM_006721546 AAH06522;AAH63538;AAI46769;AAI67158;BAA20816;BAF85091;BAF85493;BAG58688;EAW90067;EAW90068;EAW90069;NP_036525;O15067;XP_006721609 Hs.573976 2107491;5015959;5022578 D10S2448;D1S1423;PFAS__6978 FGAMS;FGAR-AT;KIAA0361;PURL FGAM synthase;FGAR amidotransferase;FGARAT;OTTHUMP00000135330;formylglycinamide ribonucleotide amidotransferase;formylglycinamide ribotide amidotransferase;formylglycinamide ribotide synthetase APPROVED protein-coding ENSG00000178921 HGNC:8863 09072 602133 REVIEWED 1347549 PFDN4 prefoldin subunit 4 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008] 20 20 20 q13.2 49529139 49541129 + 52824502 52836492 + 54207963 54219953 + 1580863;6480464 10209023;10542082;11381030;11780052;11884745;12456645;12477932;14615539;14634002;15489334;17936702;19615732;20360068;20552408;21139048;21906983;22863883;22939629;23042114;23251661;23349634;23602568;24816145;8744932;9630229 5203 E9PQY2;Q9NQP4 ABBA01052870;AK312059;AL133335;AMYH02037308;BC010953;CH471077;CN482830;NM_002623;U41816 AAB17063;AAH10953;BAG34995;EAW75572;NP_002614;Q9NQP4 Hs.91161 1644900;2131595;5126102 RH47160;RH47163;SHGC-2608 C1;PFD4 OTTHUMP00000031316;OTTHUMP00000165945;prefoldin 4;protein C-1 APPROVED protein-coding ENSG00000101132 HGNC:8868 05358 604898 REVIEWED 1353530 PF4V1 platelet factor 4 variant 1 ENCODES a protein that exhibits chemokine activity (inferred); heparin binding (inferred); INVOLVED IN cell chemotaxis (inferred); immune response (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH acetylsalicylic acid; arsenite(3-); benzo[a]pyrene 4 4 4 q12-q21 72079178 72080363 + 74719013 74720198 + 73853296 73854481 + 1580863;6480464 12477932;12665801;15174051;15459074;1695112;18563170;20237496;20688960;20961394;20980681;21111666;22384011;23128233;23536183;23747987;2725510 5197 P10720 ABBA01022993;AC092438;AMYH02009471;BC130653;BC130657;CH471057;M26167;NM_002620 AAA60067;AAI30654;AAI30658;ADR82796;EAX05692;NP_002611;P10720 Hs.72933 5021958 Pf4 CXCL4L1;CXCL4V1;PF4-ALT;PF4A;PF4alt;PF4var1;SCYB4V1 C-X-C motif chemokine 4;OTTHUMP00000160680;platelet factor 4 variant;platelet factor 4, variant 1 (PF4-like) protein-coding HGNC:8862 01427 173461 PROVISIONAL 1322898 PFDN5 prefoldin subunit 5 This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 12 12 12 q12 53338519 53342520 + 53689235 53693234 + 53295451 53299450 + 1580863;6480464 10209023;10542082;11535601;11567024;11585818;11844794;12196529;12477932;14634002;14702039;15489334;16130169;16173081;16919237;17728244;17786314;18029348;18281035;18398700;18654987;19156129;19615732;20098747;20360068;21139048;21572988;21890473;21906983;21963094;22053931;22505724;22844532;22863883;22939629;23349634;23602568;23720755;23752268;24255178;9630229;9792694 5204 F8VNW6;F8VQZ2;H3BMQ1;H3BPF6;Q99471 AB055802;AB055803;AB055804;AB055805;ABBA01008324;ABBA01008325;AC073611;AK024094;AK292623;AMYH02026517;BC003373;BC062671;BE392248;BT007195;CH471054;NG_029695;NM_002624;NM_145897 AAH62671;AAP35859;BAB32643;BAB32644;BAB32645;BAB32646;BAF85312;EAW96683;EAW96684;EAW96685;EAW96686;NP_002615;NP_665904;Q99471 Hs.655327 1659302;5016700;5024039 D16S325;RH79802;SHGC-31943 MGC5329;MGC71907;MM-1;MM1;PFD5 C-Myc-binding protein Mm-1;OTTHUMP00000241837;OTTHUMP00000241838;OTTHUMP00000241841;c-myc binding protein;myc modulator 1;myc modulator-1;prefoldin 5 APPROVED protein-coding ENSG00000123349 HGNC:8869 604899 REVIEWED 1316906 PEX5 peroxisomal biogenesis factor 5 The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 12 12 12 p13.31 8917914 8946785 + 7341759 7371170 + 7189163 7218574 + 1580863;6480464;7240710;8554872;8699517 10022913;10212238;10462504;10514471;10562279;10567403;10837480;11060344;11101887;11336669;11415446;11438541;11463335;11546814;11829486;11865044;11931631;12096124;12411433;12456682;12477932;12578380;14652019;14709540;15328363;15489334;15866874;15911627;16012170;16169070;16189514;16314507;16344560;16403517;17157249;17317787;17399738;17428317;18029348;18346465;18359941;18712838;19197237;19208625;19584060;19632994;20178365;20301621;21044950;21139048;21375735;21525035;21890473;21900206;21906983;21963094;21976670;21988832;22002062;22371489;22529745;22863883;23382691;23963456;24118911;24235149;24501781;7706321;7719337;7790377;8125298;8586442;8858165;8991089;9398847;9418886;9653144;9668159;9820813 5830 B4DR50;B4E0T2;F5GXX3;F5GYB4;F5GZ41;F5H0L9;F5H205;F5H3X7;F5H432;F5H5C0;F5H637;H0YGT8;J3KPV0;P50542 ABBA01012198;AC018653;AI252784;AK225126;AK292256;AK299105;AK299534;AK301700;AK302742;AK303515;AK312317;AK316250;AMYH02025964;BC010621;CH471116;DA399480;NG_008448;NM_000319;NM_001131023;NM_001131024;NM_001131025;NM_001131026;NM_001300789;U19721;U35407;X84899;XM_005253451;XM_005253452;XM_005253453;XM_005253455;XM_006719129;XM_006719130;XM_006719131;XM_006719132;Z48054 AAC50103;AAC50344;AAH10621;ABM82068;ABM85247;BAF84945;BAG61162;BAG61481;BAG63172;BAG63957;BAG64544;BAH14621;CAA59324;CAA88131;EAW88670;EAW88671;EAW88672;EAW88673;EAW88674;EAW88675;NP_000310;NP_001124495;NP_001124496;NP_001124497;NP_001124498;NP_001287718;P50542;XP_005253508;XP_005253509;XP_005253510;XP_005253512;XP_006719192;XP_006719193;XP_006719194;XP_006719195 Hs.567327 1659743;1740147;1754421;2217734 D12S1576;PEX5_3424;SHGC-132459;SHGC-3221 FLJ50634;FLJ50721;FLJ51948;PBD2A;PBD2B;PTS1-BP;PTS1R;PXR1 OTTHUMP00000238192;OTTHUMP00000238193;OTTHUMP00000238194;OTTHUMP00000238195;OTTHUMP00000238353;OTTHUMP00000238354;OTTHUMP00000238356;PTS1 receptor;peroxin-5;peroxisomal C-terminal targeting signal import receptor;peroxisomal targeting signal 1 (SKL type) receptor;peroxisomal targeting signal 1 receptor;peroxisomal targeting signal import receptor;peroxisomal targeting signal receptor 1;peroxisome receptor 1 APPROVED protein-coding ENSG00000139197 HGNC:9719 02684 202370;214100;214110;600414 REVIEWED 1351314 PFDN6 prefoldin subunit 6 PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010] 6 6 6 p21.3 34811736 34813069 + 33257374 33258711 + 33289597 33290934 + 1300397;1580863;6480464;8554872 9545376 10209023;12477932;14634002;15489334;16341674;16344560;16712791;17257322;17353931;17643375;18330356;19156129;19450687;19615732;19851445;20360068;21139048;21890473;21963094;21988832;22505724;22632162;22863883;22939629;23000965;23349634;23602568;23752268;24255178;24816145;8889548;9521053;9630229 10471 A2AB88;O15212;Q5STK2 ABBA01038140;AK312150;AL662820;AL662827;AMYH02013483;BC039033;BC059783;BE794658;BM686351;BM745352;BM792413;BM818422;BM834357;BU734446;BX000343;CB124036;CH471081;CR759786;CR759817;DA256816;NM_001185181;NM_001265595;NM_001265596;NM_014260;Z97184 AAH39033;AAH59783;BAG35084;CAB09993;CAC88187;EAX03705;EAX03706;EAX03707;NP_001172110;NP_001252524;NP_001252525;NP_055075;O15212 Hs.446374 H2-KE2;HKE2;KE-2;MGC70744;PFD6 HLA class II region expressed gene KE2;KE2 protein;OTTHUMP00000029360;OTTHUMP00000029363;OTTHUMP00000178657;OTTHUMP00000178658;prefoldin 6;protein Ke2 APPROVED protein-coding ENSG00000204220 HGNC:4926 16135 605660 VALIDATED 1349968 PFDN2 prefoldin subunit 2 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008] 1 1 1 q23.3 134137521 134155028 - 161070346 161087866 - 161100556 161118076 - 1580863;6480464 10051400;10209023;10542082;10931946;11042152;12477932;14615539;14634002;14743216;15489334;15923622;17353931;17643375;17893145;17936702;19156129;19322201;19450687;19615732;20360068;21139048;21565611;21890473;21906983;21963094;22053931;22797925;22844532;22863883;22939629;23000965;23349634;23443559;23602568;23720755;23752268;23914742;24255178;24816145;25036637;9630229 5202 B1AQP2;Q9UHV9 ABBA01016599;AF117237;AF151065;AF165883;AK024531;AK315736;AL591806;AMYH02002031;BC012464;BC047042;BI597083;CH471121;NM_012394 AAD47084;AAF17218;AAF36151;AAH12464;AAH47042;BAG38091;EAW52658;NP_036526;Q9UHV9 Hs.492516 1736590;1793348;1848987;1855827;2157923;5092620 A005B35;D1S2071E;D1S3274;G32219;PMC21147P2;WI-15774 PFD2 OTTHUMP00000029707;prefoldin 2 APPROVED protein-coding ENSG00000143256 HGNC:8867 09658 613466 REVIEWED 1313729 PFDN1 prefoldin subunit 1 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008] 5 5 5 q31 135701310 135759316 - 139624635 139682689 - 140245050 140303104 - 1580863;6480464 10191080;10209023;10542082;11521196;11535601;11884745;12456645;12477932;12748950;14615539;14634002;14702039;15489334;16169070;16415341;17353931;18029348;19615732;20360068;21139048;21900206;22505724;22844532;22863883;22939629;23000965;23349634;23602568;23658844;23741361;24250222;8125298;8744932;9630229 5201 D6RGG5;E5RGS4;O60925 AA910992;ABBA01026434;ABBA01026435;ABBA01026436;AC011380;AK093558;AK223394;AK315353;AMYH02012326;AMYH02012327;AMYH02012328;AMYH02012329;BC003620;BC006202;BC011869;BG707314;CH471062;NM_002622;XM_005268465;Y17392 AAH03620;AAH06202;AAH11869;BAD97114;BAG37749;CAA76759;EAW62070;EAW62071;EAW62072;NP_002613;O60925;XP_005268522 Hs.483564 1709480;1709482;1744355;1854255;2119074 GDB:451806;RH10742;SHGC-81793;SHGC-81794;WI-20399 PDF;PFD1 OTTHUMP00000159560;prefoldin 1 APPROVED protein-coding ENSG00000113068 HGNC:8866 05357 604897 REVIEWED 1318278 PEX7 peroxisomal biogenesis factor 7 This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008] 6 6 6 q23.3 137884169 137975523 + 137143702 137235072 + 136822220 136913934 + 1580863;6480464;7240710;8554872;8699517 10022913;10083738;10087260;10212238;10673331;11546814;11781871;11865044;11931631;12325024;12477932;12522768;14713215;14974078;15342556;15489334;17207965;18327563;19913121;20145307;20301317;20301447;20301527;20628086;20634891;21890473;22002062;22057399;22378669;23455924;24865970;9090381;9090382;9090383;9326939;9472033 5191 O00628;Q5TDQ5;Q6FGN1 ABBA01025823;ABBA01025824;AF180814;AL121933;AL357082;AL365223;AL583681;AMYH02014561;AMYH02014562;BC006268;BC031606;BP246238;BQ011494;CH471051;CR542054;CR542076;NG_008462;NM_000288;U76560;U88871;XM_005267019;XM_006715502;XM_006715503 AAB50556;AAC51238;AAF37350;AAH06268;AAH31606;ADQ32059;CAG46851;CAG46873;EAW47940;EAW47941;NP_000279;O00628;XP_005267076;XP_006715565;XP_006715566 Hs.280932 1670172;1710072;1710208;1797986;2186042;5022578 AFM214zf6;D1S1423;PEX7_2618;RH70703;SHGC-82325;SHGC-83729 PBD9B;PTS2R;RCDP1;RD OTTHUMP00000017277;PTS2 receptor;peroxin-7;peroxisomal PTS2 receptor;peroxisomal targeting signal 2 receptor;peroxisome targeting signal 2 receptor APPROVED protein-coding ENSG00000112357 HGNC:8860 03454 215100;266500;601757;614879 REVIEWED 69042 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q31 180478124 180505909 + 207207761 207254368 + 207053275 207081023 + 1580863;1300048;2302793;6480464;6907045;8554872 15170386 11069105;11129574;11245921;11374908;11522786;12065600;12477932;12853467;1322130;14702039;15324660;15489334;15925437;16025159;16196087;1655632;16710414;17979178;18039179;19423540;20406964;20438785;20958264;21092265;21139048;21963094;22241065;22939629;23000965;23457334;24255178;24634222;24816145;7574501;7904197;8387495;9464277;9652401 5208 B0FLL2;B4DI16;B4DY91;O60825 AB044805;ABBA01048247;AC247050;AF470623;AJ005577;AJ005578;AK125661;AK292883;AK295367;AK302315;AL445493;BC069350;BC069385;BC069583;BC069586;BC069600;BC075075;BC075076;BC112103;BC112105;BX510096;CH471100;CR749442;EU334168;NM_001018053;NM_006212;XM_005273162;XM_006711381;XM_006711382 AAH69350;AAH69385;AAH69583;AAH69586;AAH69600;AAH75075;AAH75076;AAI12104;AAI12106;AAL99386;ABY59650;BAB19681;BAF85572;BAG58328;BAG63653;CAA06605;CAA06606;CAH18280;EAW93507;EAW93508;NP_001018063;NP_006203;O60825;XP_005273219;XP_006711444;XP_006711445 Hs.282702 1335596;1674708;1677186;1689971;2108355;2113136;2138185;2157420;2161562;2170904 AL009437;AL009762;D1S2727;D1S3705;G31466;PFKFB2_8534;RH91908;RH92892;SHGC-76262;SHGC-76270 DKFZp781D2217;MGC138308;MGC138310;PFK-2/FBPase-2 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2;6PF-2-K/Fru-2,6-P2ASE heart-type isozyme;6PF-2-K/Fru-2,6-P2ase 2;OTTHUMP00000034285;OTTHUMP00000034286;PFK/FBPase 2;PFKFB, cardiac;fructose-2,6-bisphosphatase, cardiac isozyme APPROVED protein-coding ENSG00000123836 HGNC:8873 01383 171835 REVIEWED 735560 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ENCODES a protein that exhibits 6-phosphofructo-2-kinase activity (inferred); ATP binding (inferred); catalytic activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); carbohydrate phosphorylation (inferred); dephosphorylation (inferred); PARTICIPATES IN hypoxia inducible factor pathway; fructose and mannose metabolic pathway; glycolysis pathway; FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2-methylcholine 10 10 10 p15.1 6116166 6206226 + 6186843 6277508 + 6144880 6235545 + 1580863;2302793;6480464;6484113;6907045 15170386 10072580;10077634;10508479;10673355;11245921;11245987;12384552;12477932;12935880;12963966;14702039;15466858;15489334;15896703;16115917;16306349;16311927;16316985;16344560;16385451;16698023;17143338;17353931;17499765;17620599;18039179;19322201;19473963;19490427;20080744;20453422;20639865;20921411;21139048;21402913;21860432;21890473;21906983;21963094;21987444;22053931;22106309;22275052;22505724;23000965;23084401;23548149;23911327;24043759;24295899;24332967;24337577;24515104;24633012;24700124;24797263;24816145;25015289;7574501;8830046;9092801;9146922;9276680;9828130 5209 F2Z2I2;F5H5L1;H0Y483;H0YDV0;Q16875;Q5VX20;Q5W015;Q9BQU1;Q9H178 AB012229;AB033994;ABBA01034766;ABBA01034767;ABBA01034768;ABBA01034769;AF041831;AF056320;AF109735;AF110958;AI633567;AJ227868;AJ272438;AJ272439;AJ272440;AJ295747;AK094645;AK131307;AK291263;AK303039;AK304450;AL157395;AL359960;AL583908;AMYH02022055;AMYH02022056;AMYH02022057;BC037258;BC040482;BC042656;CH471072;D49817;DA315586;DB068734;DC316967;DC323583;L77662;NM_001145443;NM_001282630;NM_004566;XM_005252463;XM_005252464 AAB99795;AAC62000;AAD08818;AAD23989;AAH40482;AAL40083;ADR82745;BAA08624;BAA25289;BAA89351;BAD18473;BAF83952;BAH13886;BAH14191;CAC20460;CAC34792;CAC34793;CAC34794;EAW86397;EAW86398;EAW86399;EAW86400;EAW86401;NP_001138915;NP_001269559;NP_004557;Q16875;XP_005252520;XP_005252521 Hs.195471 1679790;1686240;1730982;1735988;1775782;1857971;2110645;2122483;2125113;2184395 AF021131;D10S1277E;D10S289;PFKFB3_8535;RH45944;RH65151;RH68277;RH79912;SHGC-33937;WI-16344 FLJ37326;IPFK2;PFK/FBPase 3;PFK2;iPFK-2 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase;6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase;6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3;6PF-2-K/Fru-2,6-P2ase 3;6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme;OTTHUMP00000019039;OTTHUMP00000019040;OTTHUMP00000019041;OTTHUMP00000019044;OTTHUMP00000019045;OTTHUMP00000019046;OTTHUMP00000019047;OTTHUMP00000019048;OTTHUMP00000019050;OTTHUMP00000019052;fructose-6-phosphate,2-kinase/fructose-2, 6-bisphosphatase;inducible 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase;renal carcinoma antigen NY-REN-56 protein-coding ENSG00000170525 HGNC:8874 05612 605319 VALIDATED 1344643 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ENCODES a protein that exhibits 6-phosphofructo-2-kinase activity (inferred); ATP binding (inferred); fructose-2,6-bisphosphate 2-phosphatase activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); carbohydrate phosphorylation (inferred); dephosphorylation (inferred); PARTICIPATES IN fructose and mannose metabolic pathway; glycolysis pathway; FOUND IN cytosol (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2-methylcholine 3 3 3 p22-p21 48510977 48550079 - 48555117 48598607 - 48517684 48556835 - 1580863;2302793;6480464;6907045 15170386 10095107;12477932;15474002;15489334;15642344;15925437;17143338;21396842;21640852;21900206;22056879;22576210;22811469;22892400;23128233;24250222;7574501;8830046 5210 B7Z5C3;B7Z5L3;C9JJ23;C9JX77;C9K0D8;F8WC12;F8WDY1;Q16877;Q5XLC3;Q66S35 ABBA01024644;AC134772;AF108765;AK298732;AK299097;AK312623;AMYH02006720;AMYH02006721;AMYH02006722;AY707863;AY714243;AY756062;AY756063;AY756064;AY786551;BC010269;CH471055;D49818;FB342977;FB711100;HI574332;NM_004567;XM_005265230;XM_005265231 AAD09427;AAH10269;AAU11326;AAU14998;AAV28717;AAV28718;AAV28719;AAV65753;ABM82561;ABM85751;BAA18921;BAG35509;BAH12859;BAH12949;CAR81489;CAS91505;CBX47655;EAW64890;NP_004558;Q16877;XP_005265287;XP_005265288 Hs.476217 1679960;1690077;1735204;2110647 D3S2863E;PFKFB4_8536;RH80762;RH94072 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase-4;6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4;6PF-2-K/Fru-2,6-P2ase 4;6PF-2-K/Fru-2,6-P2ase testis-type isozyme;OTTHUMP00000164807;OTTHUMP00000210154;OTTHUMP00000210157;PFK/FBPase 4;bifunctional enzyme with kinase and biphosphatase activities protein-coding ENSG00000114268 HGNC:8875 05613 605320 PROVISIONAL 1353203 PFKX phosphofructokinase, polypeptide X 5215 HGNC:8879 732809 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012] X X X p11.21 58794738 58855654 - 54959307 55025244 - 54933134 54998534 - 1580863;1300048;2302793;2302681;6480464;6907045;8699517;8554872 15170386;9705027 10222032;11522786;12379646;12477932;12721358;15489334;15772651;15896703;16344560;18624398;19474452;2163524;21832049;2540168;2837207;7574501;9119406 5207 I1Z9G4;P16118;Q4VBA9 ABBA01069570;ABBA01069571;ABBA01069572;ABBA01069573;ABBA01069574;ABBA01069575;ABBA01069576;AK300724;AK314089;AL020991;AL049732;AL703826;AMYH02039495;BC096077;BC096078;BC096079;CH471154;DB187700;JQ425694;JQ425695;M19938;NG_013254;NM_001271804;NM_001271805;NM_002625;NR_073450;X52638;XM_005262014 AAA35818;AAH96077;AAH96078;AAH96079;AFJ19239;AFJ19240;BAG36785;BAG62397;CAA36861;EAW93207;NP_001258733;NP_001258734;NP_002616;P16118;XP_005262071 Hs.444304 1683791;1760139;2109639;2126643;2133104;2167163 AL023939;DXS8282;PFKFB1_8533;RH41856;SHGC-132037;SHGC-58281 F6PK;HL2K;MGC116715;MGC116717;PFRX 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1;6PF-2-K/Fru-2,6-P2ASE liver isozyme;6PF-2-K/Fru-2,6-P2ase 1;OTTHUMP00000023391;PFK/FBPase 1;fructose-6-phosphate,2-kinase:fructose-2,6-bisphosphatase APPROVED protein-coding ENSG00000158571 HGNC:8872 02411 311790 REVIEWED 68621 PFKM phosphofructokinase, muscle Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] 12 12 12 q13.3 47297160 47337691 + 48499656 48540187 + 48105873 48146404 + 1599108;1580863;1300048;2302736;6480464;6907045;7240710;8554872;8699517 1533013;2931076 10187848;12432079;12477932;125160;12649290;14760703;15020257;15489334;156693;16344560;17544406;17549794;18029348;1833270;18624398;18781797;18854154;18996102;19019082;19165527;19394292;20379614;20483646;20602615;20800603;20849852;21124851;21139048;21145461;2140567;2140573;21573193;21890473;21906983;21963094;21988832;22133655;22268729;22474333;22863883;22939629;22995305;23088713;24211586;24306210;24778252;24797263;24816145;25027693;2526044;2526045;2822475;6444532;6444721;6459054;7479776;7513946;7550225;7825568;8444874;8661033;8780720;8889548;8889589;9252390;9389749;9443500 5213 F8VNX2;F8VNZ1;F8VP00;F8VSF5;F8VSF7;F8VSL1;F8VTQ3;F8VTT5;F8VUB8;F8VVE3;F8VW30;F8VX13;F8VYK8;F8VZ53;F8VZI0;F8VZQ1;F8W1J8;H0YHB8;H0YIS9;P08237 ABBA01031475;AC004801;AC074029;AK126020;AK126229;AK303681;AK308185;AK312284;AMYH02026419;BC000534;BC007798;BC012799;BC013298;BC021203;BU683561;BX537703;CH471111;CR541698;D21861;DA525437;DA560355;DA761651;DA795106;DB081387;J05533;M24925;M26066;M59719;M59720;M59721;M59722;M59723;M59724;M59725;M59726;M59727;M59728;M59729;M59730;M59731;M59732;M59733;M59734;M59735;M59736;M59737;M59738;M59739;M59740;M59741;NG_016199;NM_000289;NM_001166686;NM_001166687;NM_001166688;U24183;XM_005268974;XM_005268975;XM_005268976;XM_005268977;XM_005268978;XM_005268979;XM_005268980;XM_006719463;XM_006719464;Y00698 AAA36436;AAA60068;AAA79220;AAA82938;AAA91985;AAH00534;AAH07798;AAH12799;AAH13298;AAH21203;BAC86498;BAG64674;CAA68692;CAD97816;CAG46499;EAW57973;EAW57974;EAW57975;NP_000280;NP_001160158;NP_001160159;NP_001160160;P08237;XP_005269031;XP_005269032;XP_005269033;XP_005269034;XP_005269035;XP_005269036;XP_005269037;XP_006719526;XP_006719527 Hs.75160 1668434;1736210;1743519;1744953;2109641;2116880;2125691;2168690;2173611;2179424;5015619;5015915;5015959;5015961;5022322;5037552;5117392;5117398;5120786;5120788;5120790;5120792;5120794;5491981 D10S2448;D11S2560;D11S3114;D12S1157E;D12S2022;D15S1477;D8S2279;GDB:342275;GDB:375070;GDB:375075;GDB:375078;GDB:375081;GDB:375084;GDB:375087;GDB:542985;GDB:542997;GDB:581748;PFKM_8537;PFKM_intron19;RH11170;RH17704;RH17705;RH71215;SHGC-5984 ATP-PFK;GSD7;MGC8699;PFK-1;PFK-A;PFK-M;PFK1;PFKA;PFKX;PPP1R122 6-phosphofructo-1-kinase;6-phosphofructokinase type A;6-phosphofructokinase, muscle type;ATP-dependent 6-phosphofructokinase, muscle type;OTTHUMP00000242423;OTTHUMP00000242429;OTTHUMP00000242435;OTTHUMP00000242437;phosphofructo-1-kinase isozyme A;phosphofructokinase 1;phosphofructokinase, polypeptide X;phosphofructokinase-M;phosphohexokinase APPROVED protein-coding ENSG00000152556 HGNC:8877 01988 232800;610681 REVIEWED 5491163 PFN1P10 profilin 1 pseudogene 10 1 1 1 p36.12 20108083 20108861 - 21785917 21786695 - 21459424 21460202 - 767853 ABBA01059817;AL592309;AMYH02000452;NG_005768 pseudo HGNC:42985 INFERRED 731398 PFKL phosphofructokinase, liver This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 21 21 21 q22.3 30825177 30852489 + 45719925 45747261 + 44300042 44327378 + 1580863;1300048;2301230;2301239;2302851;2302736;2302790;6480464;6484113;6907045 14342527;2931076;4273555;4353083;6458283 10830953;12477932;12665801;12840015;1446073;14702039;15161933;15231748;1533471;15489334;15592455;1565613;156693;16169070;16189514;16713569;16780588;17643375;18254975;1828296;18854154;18996102;19056867;19615732;19738201;19946888;20562859;20602615;20811636;21139048;2139864;21505073;21832049;21906983;21963094;21988832;22145905;22174317;22268729;22505724;22623428;22863883;22923583;22939629;23125841;23703321;23956138;24457600;24654937;24797263;24816145;2533063;2822040;2902561;2944814;2948503;2952576;6227635;6238898;6444532;6444721;6445244;6455664;8115399;8780720;8931492 5211 F8WEU2;P17858;Q7L2M7 AB209127;ABBA01074160;ABBA01074161;ABBA01074162;ABBA01074163;AF086180;AK054735;AK091488;AK098228;AK303605;AK308437;AMYH02037910;AP001060;AP001061;AP001062;AP001754;BC004920;BC006422;BC007536;BC008964;BC009919;BC018295;BG390460;BQ067366;BU177678;BX351711;BX537446;BX641051;CA449348;CB997055;CH471079;HY111158;NG_034033;NM_001002021;NM_002626;NR_024108;X15573;X16911;X16912;X16913;X16914;X16915;X16916;X16917;X16918;X16919;X16920;X16921;X16922;X16923;X16924;X16925;X16926;X16927;X16928;X16929;X16930;XM_005261135;XM_005261136;XM_005261137;XM_006724011;XM_006724012 AAH04920;AAH06422;AAH07536;AAH08964;AAH09919;AAH18295;ABM84361;ABM87791;BAA95561;BAD92364;BAG51419;BAG64620;CAA33597;CAB46744;CAD97688;CAE46026;EAX09439;EAX09440;NP_001002021;NP_002617;P17858;XP_005261192;XP_005261193;XP_005261194;XP_006724074;XP_006724075 Hs.255093 1741775;1778592;1793952;2132622;2167679;5015961;5037552;5126624 D15S1477;D8S2279;G34632;GDB:179876;GDB:185161;PMC310701P3;RH47822;STS-X15573 ATP-PFK;DKFZp686G1648;DKFZp686L2097;FLJ30173;FLJ40909;PFK-B;PFK-L 6-phosphofructokinase type B;6-phosphofructokinase, liver type;ATP-dependent 6-phosphofructokinase, liver type;OTTHUMP00000109514;liver-type 1-phosphofructokinase;phosphofructo-1-kinase isozyme B;phosphofructokinase 1;phosphofructokinase, liver, b-type;phosphohexokinase APPROVED protein-coding ENSG00000141959 HGNC:8876 01385 171860 REVIEWED 1602136 PFN1P2 profilin 1 pseudogene 2 INTERACTS WITH paraoxon 1 1 1 q21 119236075 119236328 - 144610815 144612727 - 120432204 120434117 - 6480464 11948409;12477932 767846 AC241952;AF345651;AL592284;BC137262;NR_003242 AAI37263;AAL83747 Hs.657186 C1orf152;COAS3 APPROVED pseudo ENSG00000270392 HGNC:24298 608609 VALIDATED 5491160 PFN1P1 profilin 1 pseudogene 1 1 1 1 q24.3 144748808 144749619 - 171639417 171640228 - 171670277 171671088 - 730138 ABBA01027925;AMYH02002141;NG_005764;Z98751 pseudo HGNC:42989 INFERRED 5491162 PFN1P12 profilin 1 pseudogene 12 1 1 1 q21.2 121367238 121368017 - 149114649 149115428 + 143619988 143620767 + 647569 ABBA01010827;AC242799;AL356957;NG_005763 pseudo HGNC:42995 INFERRED 5688832 PFN1P4 profilin 1 pseudogene 4 1 1 q21.1 147601643 147602421 + 148129360 148130138 + 767851 AC239803;BX842679;NG_005766 pseudo HGNC:42992 INFERRED 733332 PFN1 profilin 1 This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012] 17 17 17 p13.3 4863758 4866636 - 4848945 4852381 - 4945650 4949086 - 1580863;2317552;6480464;6907045;8699517;8554872;7240710 16215274 10404225;10411937;10445846;10867004;10882740;10922060;10958683;11751973;12052260;12095630;12213210;12224553;12419186;12477932;12621583;12729790;14592989;14767055;15161933;15469846;15489334;15556561;15592455;15615774;15952740;16009940;16169070;16341674;16569658;16916647;16968742;17051635;17914456;17940506;18223293;18384219;18417352;18573880;18781797;19028693;19035654;19056867;19115233;19135240;19322201;19338310;19593789;19607826;1968707;19710142;19738201;19946888;20143334;20301623;20360068;20400688;20639865;20717968;20736409;20972266;21049052;21091798;21115820;21139048;21145461;21319273;21800051;21853274;21890473;21906983;21949785;21963094;21987572;22053931;22159600;22304920;22415225;22479341;22505724;22623428;22801503;22939629;22990118;23000965;23062600;23063648;23141414;23182804;23312802;23326535;23331014;23357624;23428184;23430586;23576398;23602568;23634771;23635659;23686314;23826918;23874603;24085347;24090212;24250222;24337577;24465723;24583282;24654937;24661873;24747440;24920614;25015289;3342873;3356709;7566098;7758455;7821789;8268157;8413665;9360613;9473484;9694849;9801792;9822597;9843499 5216 I3L3D5;K7EJ44;P07737 AA358044;ABBA01054784;AC004771;AC109333;AK312168;AL525538;AMYH02032837;AMYH02032838;BC002475;BC006768;BC013439;BC015164;BC057828;BM850671;BT007001;CH471108;CR407670;D28377;GU727630;J03191;NG_012063;NG_032945;NM_005022 AAA36486;AAH02475;AAH06768;AAH13439;AAH15164;AAH57828;AAP35647;ABM82026;ABM85208;ADU87632;BAA05743;BAG35102;CAG28598;EAW90381;EAW90382;EAW90383;EAW90384;NP_005013;P07737 Hs.494691 1736945;1742027 D17S1578;GDB:189976 ALS18 OTTHUMP00000125244;epididymis tissue protein Li 184a;profilin;profilin I;profilin-1 APPROVED protein-coding ENSG00000108518 HGNC:8881 01452 176610;614808 REVIEWED 6481546 PFN1P11 profilin 1 pseudogene 11 10 10 104604899 104605230 - 102845142 102845473 - 100873784 ABBA01063132;AL358790;AMYH02023712;NG_032540 pseudo HGNC:42994 INFERRED 5491164 PFN1P6 profilin 1 pseudogene 6 1 1 1 q21.2 119236075 119236328 - 148736446 148737224 - 144442469 144443247 + 645126 AC246785;AL592492;AL954711;NG_005762 PFN1P7 pseudo HGNC:42988 INFERRED 6481594 PFN1P8 profilin 1 pseudogene 8 1 1 146392454 146392861 - 146957261 146957668 - 100873744 AC244394;AL359176;NG_032539 pseudo HGNC:42986 INFERRED 5688831 PFN1P9 profilin 1 pseudogene 9 1 1 1 p12 118626536 118627319 + 120395828 120396611 + 119853205 119853988 + 767850 ABBA01068518;AL359752;AMYH02001822;NG_005765 pseudo HGNC:42991 INFERRED 731015 PFKP phosphofructokinase, platelet The PFKP gene encodes the platelet isoform of phosphofructokinase (PFK) (ATP:D-fructose-6-phosphate-1-phosphotransferase, EC 2.7.1.11). PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. The PFKP gene, which maps to chromosome 10p, is also expressed in fibroblasts. See also the muscle (PFKM; MIM 610681) and liver (PFKL; MIM 171860) isoforms of phosphofructokinase, which map to chromosomes 12q13 and 21q22, respectively. Vora (1981) [PubMed 6451249] determined that full tetrameric phophofructokinase enzyme expressed in platelets can be composed of subunits P4, P3L, and P2L2.[supplied by OMIM, Mar 2008] 10 10 10 p15.3-p15.2 3056125 3124845 + 3109667 3178997 + 3067475 3136805 + 1580863;2302736;2302804;6480464;6907045 2931076;8255543 12438565;12477932;12963966;14702039;14760703;15302935;1533608;15489334;15592455;156568;156693;15716112;16335966;16385451;16964243;17353931;17544406;17658951;1834056;18682847;18685789;18781797;18996102;19615732;19738201;19946888;20473970;20562859;20602615;20712903;21044950;21139048;21145461;21586797;21853274;21890473;21906983;21963094;21988832;22174317;22268729;22505724;22586326;22623428;22863883;22939629;22993228;23000965;23166591;23389994;23455922;23463506;23602568;23667531;23703321;23956138;24331211;24529757;24797263;24816145;25015289;25027693;2822475;6444721;6451249;8117307;8889548 5214 B1APP6;B1APP8;H0Y3Y3;H0Y757;Q01813;Q5VSR5;V9GY25;V9GYV7 AA622586;ABBA01035230;ABBA01035231;AK092597;AK097692;AK126153;AK128373;AK129843;AK130767;AK291841;AK308003;AK308226;AK309692;AL451164;AL521453;AL731533;AMYH02022004;AMYH02022005;AMYH02022006;AMYH02022007;AMYH02022008;BC002536;BC021698;BC029138;BC043156;BU737488;CD365858;CH471072;D21863;D25328;KF455188;M64784;NM_001242339;NM_002627;XM_005252465;XM_005252466;XM_005252467;XM_006717449 AAA36435;AAH02536;AAH21698;AAH29138;AAH43156;ABM86073;ABW03770;BAA04998;BAA21891;BAF84530;BAG52577;BAG53515;EAW86495;EAW86496;EAW86497;NP_001229268;NP_002618;Q01813;XP_005252522;XP_005252523;XP_005252524;XP_006717512 Hs.26010 1334943;1699090;1725583;1742213;1757921;1792776;1794656;2108357;2136126;5014053 D10S1218;D1S3693;G62086;GDB:193844;PFKP_8538;PMC164283P1;PMC343947P1;RH103121;RH15729;SHGC-146866 ATP-PFK;FLJ40226;FLJ44165;PFK-C;PFK-P;PFKF 6-phosphofructokinase type C;6-phosphofructokinase, platelet type;ATP-dependent 6-phosphofructokinase, platelet type;OTTHUMP00000018966;OTTHUMP00000018967;Phosphofructokinase, platelet type;phosphofructo-1-kinase isozyme C;phosphofructokinase 1;phosphohexokinase APPROVED protein-coding ENSG00000067057 HGNC:8878 01384 171840 VALIDATED 5491161 PFN1P5 profilin 1 pseudogene 5 1 q21.1 146059806 146060584 + 767852 AL049742;NG_005767 pseudo HGNC:42990 INFERRED 5491159 PFN1P7 profilin 1 pseudogene 7 1 q21.1 148574410 148575188 - 767854 AL954711;NG_005769 pseudo HGNC:42993 INFERRED 5491055 PFN1P3 profilin 1 pseudogene 3 1 1 q21.2 148349119 148349897 + 145407635 145408413 + 11948409 200025 ABBA01011508;AC245014;BX546486;NG_006513;NG_034048 COAS-3;COAS3 pseudo HGNC:42987 INFERRED 1604471 PFN3 profilin 3 The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 171673817 171674346 + 176827108 176827637 - 177400107 177400636 - 6480464;6907045 11867228;12477932;15372022;19419568;20383146;22396660;22916037 345456 P60673 AA909745;ABBA01033457;AC145098;AMYH02012836;BC132952;BC132954;CH471195;NG_016223;NM_001029886 AAI32953;AAI32955;EAW85006;NP_001025057;P60673 Hs.130196 1665717;2147603;2182319 RH67849;RH70295;STS-W95094 OTTHUMP00000223847;profilin III;profilin-3 APPROVED protein-coding ENSG00000196570 HGNC:18627 612812 REVIEWED 1347216 PFN4 profilin family, member 4 ENCODES a protein that exhibits actin binding (inferred); lipid binding (inferred); INVOLVED IN actin cytoskeleton organization (inferred); PARTICIPATES IN Shigella infection pathway; FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH cyclosporin A; lead(0); lead(2+) 2 2 2 p23.3 24178574 24186481 - 24337954 24346334 - 24115084 24123489 - 1580863;6480464;6907045 12477932;15489334;19419568;19773279 375189 Q8NHR9 ABBA01045102;ABBA01045103;AC008073;AK292601;AMYH02003410;BC029523;BC043236;CH471053;NM_199346;XM_005264292;XM_006712007 AAH29523;AAY14666;BAF85290;EAX00760;EAX00761;NP_955378;Q8NHR9;XP_005264349;XP_006712070 Hs.442718 5022578 D1S1423 OTTHUMP00000116035;profilin IV;profilin-4 protein-coding HGNC:31103 15120 PROVISIONAL 1345189 PGA3 pepsinogen 3, group I (pepsinogen A) ENCODES a protein that exhibits aspartic-type endopeptidase activity (inferred); INVOLVED IN digestion (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (+)-catechin; lead(0); lead(2+) 11 11 11 q12.2 58331177 58354968 + 60970984 60980350 + 61203512 61212878 + 1580863;6480464;8554872 12477932;14702039;15688378;17559360;18844222;19196398;21175799;23886209;6300126;8125298 643834 F5GXL4;F5H0H6;F5H7H3;F5H842;P0DJD8 ABBA01158882;AC244206;AK125628;AK225669;AK225674;AK225679;AK301286;AK301293;AK312941;AL832946;AP000437;BC171815;DA968889;NM_001079807 AAI60184;AAI71815;BAG35783;BAG54225;BAG62845;BAG62851;CAH56304;NP_001073275;P0DJD8 Hs.601055;Hs.661883 1742531;5024143;5120149 GDB:197565;GDB:197855;STS-R83655 DKFZp666J2410;PGA4;PGA5 OTTHUMP00000237816;OTTHUMP00000238421;pepsin A;pepsin A-3;pepsinogen A3;pepsinogen-3 protein-coding HGNC:8885 169710 VALIDATED 734176 PFN2 profilin 2 The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q25.1 148096052 148102101 - 149682691 149688741 - 149964904 149970954 - 1580863;6480464;6907045 10600384;10882740;10945997;10958683;11027290;12224553;12391155;12477932;12677009;14517206;15123239;15383276;15489334;15615774;1602151;16169070;17382517;18573880;19056867;21139048;21725608;21890473;21906983;21987572;22505724;22939629;23000965;23898208;24337577;24816145;3356709;7737110;7758455;8365484;8641130;8975700;9463375;9822597 5217 C9J0J7;C9J2N0;C9J5V8;C9J712;C9JQ45;F2Z3G0;G5E9Q6;P35080 ABBA01058936;AC117395;AF228738;AK297915;AK307227;AK311780;AK311782;AL096719;AMYH02007887;BC002964;BC018049;BC043646;BC095444;BX463350;CH471052;L10678;NG_029114;NM_002628;NM_053024 AAA03022;AAG24949;AAH18049;AAH43646;AAH95444;ACE87020;ACE87707;BAG34723;BAG34725;BAG60233;EAW78850;EAW78851;EAW78852;EAW78853;EAW78854;EAW78855;EAW78856;NP_002619;NP_444252;P35080 Hs.91747 1649419;1686050;1733414;2162435 D17S1275;RH27938;STS-L10678;WI-15778 D3S1319E;PFL OTTHUMP00000216204;OTTHUMP00000216339;OTTHUMP00000216340;OTTHUMP00000216346;profilin II;profilin-2 APPROVED protein-coding ENSG00000070087 HGNC:8882 01451 176590 REVIEWED 1606055 PGA4 pepsinogen 4, group I (pepsinogen A) ENCODES a protein that exhibits aspartic-type endopeptidase activity (inferred); INVOLVED IN digestion (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH lead(0); lead(2+); 17alpha-ethynylestradiol (ortholog) 11 11 11 q12.2 58331178 58354968 + 60989821 60999179 + 61222349 61231707 + 6480464;8554872 12477932;15489334;2415509;2515193;2714789;3197840;6300126;7663352 643847 P0DJD7 AC244206;AK291864;AK301305;AP000437;AP003037;BC150659;BC171808;BC171814;BC171910;BC171920;NM_001079808 AAI50660;AAI52845;AAI71808;AAI71814;AAI71910;AAI71920;BAF84553;BAH13455;NP_001073276;P0DJD7 Hs.661883 1742531;5024143;5120149 GDB:197565;GDB:197855;STS-R83655 FLJ58952;FLJ77962;PGA3;PGA5 OTTHUMP00000237819;pepsin A;pepsin A-4;pepsinogen A4;pepsinogen-3;pepsinogen-4 protein-coding HGNC:8886 169720 VALIDATED 1351408 PGA@ pepsinogen A gene cluster 5219 HGNC:8884 1350538 PGA5 pepsinogen 5, group I (pepsinogen A) ENCODES a protein that exhibits aspartic-type endopeptidase activity (inferred); INVOLVED IN digestion (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 11 11 11 q13 58331175 58354968 + 61008644 61018929 + 61241172 61251457 + 1580863;6480464;8554872 12477932;14702039;15489334;1906854;23311720;2415509;24284944;2515193;2609705;2714789;2797342;2920466;3115885;3191614;3197840;3305135;3467902;6300126;7663352;8125298;8187358;9421118 5222 B7ZW66;C9JM59;F5GWT0;P0DJD9 ABBA01003192;ABBA01003193;ABBA01003194;ABBA01003195;ABBA01003196;AC244206;AP003037;BC029055;BC146999;BC171889;BC171897;CH471076;J00287;M26032;M27596;M27598;NM_014224 AAA36431;AAA36432;AAA60061;AAA98529;AAH29055;AAI47000;AAI71889;AAI71897;EAW73928;NP_055039;P0DJD9 Hs.432854 5024143;5120149 GDB:197565;STS-R83655 PGA3;PGA4 OTTHUMP00000237822;pepsin A;pepsin A-5;pepsinogen A5;pepsinogen-5 protein-coding ENSG00000256713 HGNC:8887 01356 169730 VALIDATED 5144714 PGAM1P10 phosphoglycerate mutase 1 pseudogene 10 6 6 6 74157955 74158712 + 73764820 73765577 + 73055097 73055854 + 100420633 ABBA01040302;AL360236;AMYH02013902;NG_025955 1805422;1920878;1920880;1920882;1920884;1920886;1920888;1920890;1920892;1920894;1920896;1920898;1920900;1920902;1920904;1920906 ECD03658;REN31260;REN31261;REN31262;REN31263;REN31264;REN31265;REN31266;REN31267;REN31268;REN31269;REN31270;REN31271;REN31272;REN31273;REN31274 pseudo HGNC:42457 INFERRED 5144715 PGAM1P11 phosphoglycerate mutase 1 pseudogene 11 1 1 1 9230164 9231145 + 10118731 10119712 + 10058673 10059654 + 100420660 ABBA01035584;AL590639;AMYH02000260;NG_027065 pseudo HGNC:42464 INFERRED 5144724 PGAM1P13 phosphoglycerate mutase 1 pseudogene 13 8 8 8 q23.1 104846100 104846853 + 108659508 108660261 + 107647280 107648033 + 100129815 ABBA01037697;AC025519;AMYH02018584;NG_022429 pseudo HGNC:42461 INFERRED 6481449 PGAM1P3 phosphoglycerate mutase 1 pseudogene 3 3 3 40364209 40364762 - 40322718 40323271 - 100873887 ABBA01024796;AC104186;AMYH02006593;NG_032517 pseudo HGNC:42450 INFERRED 5144726 PGAM1P1 phosphoglycerate mutase 1 pseudogene 1 5 5 5 q11.2 54401615 54402168 + 57457025 57457578 + 58161198 58161751 + 100130514 ABBA01015783;AC008786;AMYH02011347;NG_021883 pseudo HGNC:42448 INFERRED 5144717 PGAM1P6 phosphoglycerate mutase 1 pseudogene 6 2 2 2 23935526 23936275 - 24095135 24095884 - 23872265 23873014 - 100420567 ABBA01045095;AC066692;AMYH02003407;NG_023552;NG_029017 pseudo HGNC:42453 INFERRED 5144716 PGAM1P7 phosphoglycerate mutase 1 pseudogene 7 X X X 50697871 50698604 - 46506032 46506765 - 46646597 46647330 - 100420650 ABBA01052235;AL022165;AMYH02039261;NG_012622;NG_026685 pseudo HGNC:42454 INFERRED 737211 PGAM1 phosphoglycerate mutase 1 (brain) Phosphoglyceric acid mutase (EC 2.7.5.3) is widely distributed in mammalian tissues where it catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway (summary by Chen et al., 1974 [PubMed 4811757]).[supplied by OMIM, Nov 2010] 10 10 10 q25.3 92924180 92931355 + 99186027 99193198 + 97426270 97433441 + 1300048;1580863;2302794;6480464;6907045 18092946 12189148;12477932;14702039;15388943;15489334;15592455;15710582;16169070;16196087;16881065;18239623;18781797;19135240;19405953;19686046;19946888;20403181;20471030;20847263;20849852;21139048;21565611;21890473;21906983;21963094;22053931;22079093;22157007;22505724;22536838;22586326;22939629;23000965;23153533;23277564;23653202;24250222;24337577;24567357;24583282;24654937;24816145;25015289;2822696;2846553;2846554;4811757;6282177;8125298;8619474;9110174;9150946 5223 P18669;Q6FHU2 ABBA01021803;AK223096;AK292216;AK293023;AK295991;AK296619;AK297491;AK312351;AK315910;AL355490;AMYH02023609;AY007118;BC000455;BC010038;BC011678;BC053356;BC062302;BC066959;BC073742;BC157873;CH471066;CR541659;CR541744;EU794644;HH770043;HH770385;J04173;NM_002629 AAA60071;AAG01990;AAH00455;AAH10038;AAH11678;AAH53356;AAH62302;AAH66959;AAH73742;AAI57874;ABM83991;ABM87317;ACJ13698;BAD96816;BAF84905;BAF85712;BAG35272;BAG58766;BAG59227;BAG59909;BAH14281;CAG46460;CAG46544;CBX85739;CBX85910;EAW49937;EAW49938;EAW49939;EAW49940;EAW49941;EAW49942;EAW49943;EAW49944;NP_002620;P18669 Hs.632918 5014705;5113629 NIB1467;SHGC-8034 HEL-S-35;PGAM-B BPG-dependent PGAM 1;OTTHUMP00000020190;PGAMA;epididymis secretory protein Li 35;phosphoglycerate mutase 1;phosphoglycerate mutase A, nonmuscle form;phosphoglycerate mutase isozyme B APPROVED protein-coding ENSG00000171314 HGNC:8888 01392 172250 PROVISIONAL 5144722 PGAM1P5 phosphoglycerate mutase 1 pseudogene 5 12 12 12 q22 95715374 95739663 + 96043031 96067775 + 95649255 95673999 + 12477932;23921680 100132594 ABBA01053328;AC008128;AMYH02026986;AMYH02026987;BC022928;BX509596;NR_077225 Hs.676211 2219206 NTN4__6080 pseudo ENSG00000257150 HGNC:42452 VALIDATED 5144718 PGAM1P9 phosphoglycerate mutase 1 pseudogene 9 11 11 11 89404221 89404972 - 92099665 92100416 - 92366499 92367250 - 100420681 ABBA01040057;AMYH02025348;AP000722;NG_024403 pseudo HGNC:42456 INFERRED 1345764 PGAM3P phosphoglycerate mutase 3, pseudogene 20 20 20 p12.2 11671824 11672250 + 11601700 11602126 + 11621052 11621478 + 11961099 170535 ABBA01053944;AL109837;AMYH02036704;NG_001047 dJ1128N12.1 pseudo HGNC:16557 INFERRED 5144732 PGAM1P12 phosphoglycerate mutase 1 pseudogene 12 15 15 15 q26.2 73400999 73401743 - 96984799 96985543 - 96441569 96442313 - 390643 ABBA01032421;AC087477;AMYH02031117;NG_022119 pseudo HGNC:42459 INFERRED 5144708 PGAM4P1 phosphoglycerate mutase family member 4 pseudogene 1 X X X 58530977 58531626 + 54698419 54699068 + 54671986 54672635 + 100421178 ABBA01069600;AL109854;AMYH02039493;NG_026840 pseudo HGNC:42465 INFERRED 5490874 PGAM1P8 phosphoglycerate mutase 1 pseudogene 8 11 11 11 q13.1 62267916 62269279 - 64941599 64942962 - 65174128 65175491 - 12477932 440043 ABBA01024133;AMYH02024953;AP003068;NG_023196 1920910 REN31276 pseudo HGNC:42455 INFERRED 5144730 PGAM1P4 phosphoglycerate mutase 1 pseudogene 4 3 3 3 p25.3 9324840 9325586 + 9390127 9390873 + 9348443 9349189 + 391508 ABBA01020411;AC026191;AMYH02006232;NG_022236 1920904 REN31273 pseudo HGNC:42451 INFERRED 5144725 PGAM4P2 phosphoglycerate mutase family member 4 pseudogene 2 4 4 4 q26 113977599 113978246 - 116685270 116685917 - 115764114 115764761 - 100131611 ABBA01063854;AC093744;AMYH02009966;NG_022028 1695960 SHGC-78921 pseudo HGNC:42466 INFERRED 1604671 PGAM4 phosphoglycerate mutase family member 4 This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a phosphate group from 3-phosphoglycerate to 2-phosphoglycerate. [provided by RefSeq, May 2010] X X X q13 77464542 77466219 - 77223458 77225135 - 77967961 77969638 - 6907045;6480464 10737800;11961099;16201836;16916647;21139048;21890473;21906983;21963094;22053931;22505724;22590500;23000965;23631659;24816145;9370262 441531 O00228;Q8N0Y7 ABBA01029585;AF465731;AF465732;AF465733;AF465734;AF465735;AF465738;AF465739;AF465740;AF465741;AF465742;AF465743;AF465745;AL772330;AMYH02039820;BG875904;DQ120647;HH770395;NG_013224;NG_021360;NM_001029891;U76194;Z94801 AAI48677;AAM27282;AAM27283;AAM27284;AAM27285;AAM27286;AAM27289;AAM27290;AAM27291;AAM27292;AAM27293;AAM27294;AAM27296;ABB92432;CAB08163;CBX85915;NP_001025062;Q8N0Y7 Hs.632822 2151213;5014705;5113629 AL023617;NIB1467;SHGC-8034 PGAM-B;PGAM1;PGAM3;dJ1000K24.1 OTTHUMP00000063546;phosphoglycerate mutase 4;phosphoglycerate mutase family 3;phosphoglycerate mutase processed protein;probable phosphoglycerate mutase 4 APPROVED protein-coding HGNC:21731 300567 REVIEWED 5144712 PGAM5P1 phosphoglycerate mutase family member 5 pseudogene 1 5 5 5 105160515 105161343 - 109220310 109221138 - 109884609 109885437 - 23535033 100421133 ABBA01069083;AC011366;AMYH02011957;NG_024616 pseudo HGNC:42467 INFERRED 5144733 PGAM1P2 phosphoglycerate mutase 1 pseudogene 2 9 9 9 p13.3 35876785 35877509 - 35943207 35943931 - 35943210 35943934 - 392310 ABBA01023128;AL135841;AMYH02019468;NG_021612 pseudo HGNC:42449 INFERRED 1604217 PGAM5 phosphoglycerate mutase family member 5 ENCODES a protein that exhibits GTPase activator activity; phosphatase activity; protein complex binding; INVOLVED IN dephosphorylation; necroptotic process; positive regulation of GTPase activity; FOUND IN mitochondrion; INTERACTS WITH 17beta-estradiol; atrazine; benzo[a]pyrene diol epoxide I 12 12 12 q24.33 132987362 133009550 + 133287393 133299323 + 132710807 132722737 + 6480464 11283018;12477932;14702039;15324660;16169070;17046835;18387606;18781797;19167051;19590015;19596235;19615732;19738201;20186120;21081666;21139048;21145461;21151955;21182205;21890473;21906983;21907836;21987572;22072718;22118674;22265414;22505724;22586326;22810585;22915595;22990118;23000965;23084401;23201124;23443559;24127568;24244333;24250222;24255178;24337577;24457600;24746696;24816145;25015289;7584027 192111 F5GXG4;Q96HS1 ABBA01012372;ABBA01012373;ABBA01012374;ABBA01012375;ABBA01012376;AC135586;AF357523;AK097688;AMYH02027591;BC008196;BC047906;CA307621;CH471218;CR995429;D25830;DR155760;EU249757;NM_001170543;NM_001170544;NM_138575 AAH08196;AAK60627;ABX39494;EAW54825;EAW54826;EAW54827;NP_001164014;NP_001164015;NP_612642;Q96HS1 Hs.102558 1698852;2173388;2173390;2178195;5015404;5022463;5022578;5037552;5109281 A005X42;D1S1423;D1S1425;D3S1673;D8S2279;G20583;L17705;RH102991;RH44489 BXLBv68;MGC5352 Bcl-XL-binding protein v68;OTTHUMP00000237613;OTTHUMP00000237614;OTTHUMP00000237615;OTTHUMP00000237616;serine/threonine-protein phosphatase PGAM5, mitochondrial protein-coding ENSG00000247077 HGNC:28763 14681 614939 VALIDATED 68971 PGAM2 phosphoglycerate mutase 2 (muscle) Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009] 7 7 7 p13-p12 44200271 44203131 - 44102326 44105186 - 44062727 44065587 - 1599129;1300048;1580863;2302795;2302794;6480464;6907045;7240710;8554872;8699517 15720133;18092946;8447317 10545043;12477932;15489334;17370265;19615732;21252943;2145198;2153628;21890473;21906983;21963094;22505724;23000965;24567357;24816145;2549058;2822696;6262916 5224 P15259 ABBA01058213;AC017116;AMYH02015615;BC001904;BC073741;CH236960;CH471128;CT002473;HH770027;HH770391;J05073;M18172;M55673;M55674;NG_013016;NM_000290 AAA60072;AAA60073;AAA64238;AAH01904;AAH73741;CBX85731;CBX85913;EAL23769;EAW61128;NP_000281;P15259 Hs.632642 1660038;1673403;2162585 PGAM2;RH18175;WI-16185 GSD10;MGC88743;PGAM-M;PGAMM BPG-dependent PGAM 2;OTTHUMP00000207787;muscle-specific phosphoglycerate mutase;phosphoglycerate mutase 2;phosphoglycerate mutase isozyme M APPROVED protein-coding ENSG00000164708 HGNC:8889 02027 261670;612931 REVIEWED 1605037 PGAP1 post-GPI attachment to proteins 1 PGAP1 catalyzes the inositol deacylation of glycosylphosphatidylinositol (GPI) at an early step in GPI biosynthesis. Inositol deacylation is essential for the generation of mature GPI capable of attachment to proteins (Tanaka et al., 2004 [PubMed 14734546]).[supplied by OMIM, Mar 2008] 2 2 2 q33.1 191453596 191547318 - 197697728 197791454 - 196833004 196926995 - 6480464;6907045;8699517;7240710;8554872 12477932;12975309;14702039;14734546;15489334;15815621;17711852;1846368;19343720;20379614;21853274;22118674;22963397;24250222;24482476 80055 A6NI33;B4DYY6;F8WD75;H7BZN8;Q75T13 AB128038;ABBA01062462;ABBA01062463;ABBA01062464;AC012486;AC017035;AK001646;AK022439;AK124764;AK302663;AK309112;AK310484;AL050078;AMYH02005512;AMYH02005513;AMYH02005514;AMYH02005515;AY358624;BC040517;BX648642;NM_024989;XM_005246866;XR_427112 AAI52720;AAQ88987;AAX88854;AAY15059;BAB14035;BAD13427;BAG63898;CAH10543;NP_079265;Q75T13;XP_005246923 Hs.229988 1338909;1673164;1848282;5015619;5020740 D11S3114;D2S2327;L17809;RH45473;WI-11026 Bst1;FLJ42774;ISPD3024;MRT42;SPG67;hPGAP1 GPI deacylase;GPI inositol-deacylase;OTTHUMP00000163621;OTTHUMP00000205622;post-GPI attachment to proteins factor 1 APPROVED protein-coding ENSG00000197121 HGNC:25712 10147 611655;615802 VALIDATED 1352306 PGAP3 post-GPI attachment to proteins 3 This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause the autosomal recessive neurologic disorder hyperphosphatasia with mental retardation syndrome 4 (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014] 17 17 17 q12 34487104 34504028 - 37827375 37844310 - 39671122 39688057 - 6480464;8699517 12460457;12477932;12739007;12975309;15010812;16303743;17021251;17117180;17314402;19124506;19913121;20628086;22188591;23615438;24439110 93210 A8K0P7;B4DGK7;J3KTJ2;J3QKU0;J3QQL0;J3QRN7;Q96FM1 AB088396;ABBA01031860;AC087491;AF217980;AK057911;AK075473;AK075474;AK289612;AK294639;AK301106;AK314469;AL833198;AMYH02033385;AMYH02033386;AY358437;BC010652;BG472165;CH471152;DC389056;NG_034125;NM_001291726;NM_001291728;NM_001291730;NM_001291732;NM_001291733;NM_033419 AAG17223;AAH10652;AAQ88803;BAC11642;BAC55580;BAF82301;BAG57818;BAG62705;EAW60589;EAW60590;EAW60591;EAW60592;EAW60593;EAW60594;NP_001278655;NP_001278657;NP_001278659;NP_001278661;NP_001278662;NP_219487;Q96FM1 Hs.462971 1644297;1762665;2116282;2116284;5491499 A005W25;G20552;MARC_16029-16030:1017091429:1;RH12695;SHGC-146459 AGLA546;CAB2;HPMRS4;MGC9753;PER1;PERLD1;PP1498;hCOS16 COS16 homolog;PER1-like domain-containing protein 1;gene coamplified with ERBB2 protein;per1-like domain containing 1;post-GPI attachment to proteins factor 3 protein-coding ENSG00000161395 HGNC:23719 15118 611801;615716 REVIEWED 1352422 PGBD1 piggyBac transposable element derived 1 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010] 6 6 6 p22.1 29855760 29876770 + 28249314 28270326 + 28281537 28302549 + 6480464;8554872 12477932;12955498;16344560;18029348;18830724;20534741;20673877;20873219;22037552;22488895;8125298;8889548 84547 Q96JS3 ABBA01038015;ABBA01038016;ABBA01038017;AK223446;AK291228;AL021997;AMYH02013393;BC019876;BC032507;BC040117;BC069033;BC128585;BQ185356;CH471081;D88259;DA946293;NM_001184743;NM_032507;XM_006715228 AAH69033;AAI28586;BAB46919;BAD97166;BAF83917;EAX03151;NP_001171672;NP_115896;Q96JS3;XP_006715291 Hs.144527 2160577 RH79237 HUCEP-4;SCAND4;dJ874C20.4 OTTHUMP00000016203;cerebral protein 4;cerebral protein-4;piggyBac transposable element-derived protein 1 APPROVED protein-coding ENSG00000137338 HGNC:19398 11426 REVIEWED 1342943 PGBD3P1 piggyBac transposable element derived 3 pseudogene 1 12 12 12 q13.12 61294175 61296184 - 61624724 61626733 - 61230943 61232952 - 267005 ABBA01026654;AC090017;AMYH02026623;NG_002400 pseudo HGNC:19402 INFERRED 1345759 PGBD3 piggyBac transposable element derived 3 This gene is a member of a small family of genes derived from piggyBac transposable elements. The encoded protein contains a zinc-ribbon domain characteristic of transposon-derived proteins and may function as a regulator of transcription. Naturally-occurring readthrough transcription occurs between this gene and the adjacent ERCC6 gene (GeneID 2074), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. There are several pseudogenes for this gene on chromosomes 4, 5 and 12. [provided by RefSeq, Mar 2013] 10 10 10 q11 44309274 44318482 - 50723151 50732327 - 49515105 49524281 - 6480464;8554872 12477932;12955498;16385451;18369450;20379614;21143350;21988832;22483866;23028371;23369858 267004 Q8N328;Q9UIW3 ABBA01041070;AK074682;AL133084;AL138760;AMYH02022985;BC028954;BC063690;BG121679;CH471187;CQ783578;NG_009442;NG_033155;NM_170753 AAH28954;AAH63690;BAG51986;CAB61402;CAF86746;EAW93095;NP_736609;Q8N328 Hs.49063 1679417;1685984;1730219;1736050;1736100;1851797;2172666 D10S1321E;D10S1378E;D10S1553;D10S238E;RH26695;RH44808;RH98308 FLJ90201 OTTHUMP00000019580;piggyBac transposable element-derived protein 3 APPROVED protein-coding ENSG00000243251 HGNC:19400 17838 REVIEWED 1345542 PGBD3P2 piggyBac transposable element derived 3 pseudogene 2 5 5 5 p13.3 29763379 29764633 - 29881806 29883060 - 29881699 29882953 - 267006 ABBA01066703;AC010374;AMYH02011101;NG_002401 pseudo HGNC:19397 INFERRED 1352420 PGBD3P3 piggyBac transposable element derived 3 pseudogene 3 12 12 12 q24.2 126600836 126601993 + 126994665 126995822 + 126510119 126511276 + 267007 ABBA01060317;AC006065;AMYH02027497;NG_002402 pseudo HGNC:19396 INFERRED 733101 PGAP2 post-GPI attachment to proteins 2 ENCODES a protein that exhibits protein transporter activity (ortholog); INVOLVED IN GPI anchor biosynthetic process (ortholog); ASSOCIATED WITH Autosomal recessive inheritance (inferred); Cerebral atrophy (inferred); Congenital onset (inferred); FOUND IN endoplasmic reticulum membrane (ortholog); Golgi membrane (ortholog); INTERACTS WITH all-trans-retinoic acid; bilirubin; copper(2+) sulfate 11 11 11 p15.5 3824025 3852735 + 3818954 3847601 + 3797724 3826371 + 6480464;7240710;8554872;8699517 10585768;12107413;12477932;16344560;16407401;19460752;23561846;23561847;7829101 27315 A8MYS5;A8MZF5;B7Z2X5;E9PKT0;E9PPF7;E9PQ19;E9PRZ2;H0YCQ4;H0YDC6;H0YDJ5;H0YDQ4;H0YDV9;H0YDZ3;H0YE14;H0YEE9;H0YEG9;H0YF47;Q9UHJ9 ABBA01032048;ABBA01032049;ABBA01032050;AC090587;AF159615;AF159621;AK130030;AK292181;AK295202;AK301991;AK307359;AK308525;AL049261;AL096753;AL558360;AMYH02024232;AMYH02024233;AY373030;BC009930;BG468212;BG707484;BI460657;BI497274;BI759334;BI768071;BI771208;BI772237;BI858175;BI911028;BI911526;BX340489;BX356273;BX379511;BX448155;CB988453;CD675009;CD675113;CH471158;CX872317;DA287291;HY171112;NM_001145438;NM_001256235;NM_001256236;NM_001256237;NM_001256238;NM_001256239;NM_001256240;NM_001283038;NM_001283039;NM_001283040;NM_014489;NR_027016;NR_027017;NR_027018;NR_045923;NR_045925;NR_045926;NR_045927;NR_045929;NR_104270;NR_104271;NR_104272;XM_006718181;XM_006718182;XM_006718183;XM_006718184;XM_006718185;XM_006718186;XM_006718187;XM_006718188;XM_006718189;XM_006718190;XM_006718191;XM_006718192;XM_006718193 AAF12755;AAF19156;AAH09930;AAQ75733;BAC85281;BAF84870;BAH12011;BAH13602;CAB46428;EAX02568;EAX02569;EAX02570;EAX02571;EAX02572;EAX02573;EAX02574;NP_001138910;NP_001243164;NP_001243165;NP_001243166;NP_001243167;NP_001243168;NP_001243169;NP_001269967;NP_001269968;NP_001269969;NP_055304;Q9UHJ9;XP_006718244;XP_006718245;XP_006718246;XP_006718247;XP_006718248;XP_006718249;XP_006718250;XP_006718251;XP_006718252;XP_006718253;XP_006718254;XP_006718255;XP_006718256 Hs.133968 1675722;2109321;2129005;5015322;5015404;5016478;5020946;5024413;5037552 D10S512;D11S4525;D8S2279;FRAG1_9547;GDB:434012;L17705;L17877;L17971;RH94228 CWH43-N;FLJ26520;FRAG1;HPMRS3;MGC799;MRT17;MRT21 FGF receptor activating protein 1;FGF receptor-activating protein 1;OTTHUMP00000014114;OTTHUMP00000014115;OTTHUMP00000229137;OTTHUMP00000229138;OTTHUMP00000229213;OTTHUMP00000229215;OTTHUMP00000229217;OTTHUMP00000229229;OTTHUMP00000229265;cell wall biogenesis 43 N-terminal homolog;mental retardation, non-syndromic, autosomal recessive, 21;post-GPI attachment to proteins factor 2 protein-coding ENSG00000148985 HGNC:17893 17016 614207;615187 VALIDATED 1343105 PGBD3P4 piggyBac transposable element derived 3 pseudogene 4 4 4 4 p14 44036459 44038468 + 43588337 43590346 + 43586320 43588329 + 9847074 267008 ABBA01014301;AC114774;AMYH02009121;NG_002403 pseudo HGNC:19379 INFERRED 6769313 PGBD4P2 piggyBac transposable element derived 4 pseudogene 2 20 20 20 40179234 40179857 - 43470566 43471189 - 44841925 44842548 - 100421228 ABBA01052654;AL118522;AMYH02037139;NG_024979 pseudo HGNC:44077 INFERRED 6769292 PGBD4P3 piggyBac transposable element derived 4 pseudogene 3 5 5 5 143766634 143767173 + 147687274 147687813 + 148307711 148308250 + 100421136 ABBA01026318;AC091948;AMYH02012434;NG_024731 pseudo HGNC:44068 INFERRED 1349164 PGBD4 piggyBac transposable element derived 4 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq, Jul 2008] 15 15 15 q14 11196786 11206578 + 34394274 34396591 + 34102073 34104390 + 6480464 12477932;12955498;14702039 161779 Q96DM1 ABBA01038544;AC079203;AK057200;AK094816;AK289491;AMYH02030150;BC130441;CH471125;NM_152595 BAB71379;BAC04428;BAF82180;EAW92287;NP_689808;Q96DM1 Hs.156317 FLJ32638;FLJ37497 OTTHUMP00000159732;piggyBac transposable element-derived protein 4 APPROVED protein-coding HGNC:19401 17839 VALIDATED 6769304 PGBD4P4 piggyBac transposable element derived 4 pseudogene 4 4 4 4 128796878 128797484 + 131415828 131416434 + 130494673 130495279 + 100421146 ABBA01044840;AC092540;AMYH02010113;NG_025253 pseudo HGNC:44076 INFERRED 6769289 PGBD4P5 piggyBac transposable element derived 4 pseudogene 5 2 2 2 87567025 87567602 + 89221624 89222269 - 88922108 88922753 - 100421123 AC096767;AC243970;AP001240;NG_000834 pseudo HGNC:44070 VALIDATED 6769291 PGBD4P7 piggyBac transposable element derived 4 pseudogene 7 1 1 1 93392915 93394163 - 95138477 95139725 - 94672921 94674169 - 100421182 ABBA01045506;AC093117;AMYH02001509;NG_026961 1701552 RH104409 pseudo HGNC:44074 INFERRED 6769290 PGBD4P6 piggyBac transposable element derived 4 pseudogene 6 X X X 142719068 142719695 + 142431763 142432390 + 143343970 143344597 + 100421180 ABBA01066380;AC239727;AL022719;AMYH02040694;NG_026900 pseudo HGNC:44071 INFERRED 6769312 PGBD4P8 piggyBac transposable element derived 4 pseudogene 8 1 1 1 58851744 58852320 + 60563073 60563649 + 60097401 60097977 + 100421185 ABBA01074644;AC097066;AMYH02001110;NG_027099 pseudo HGNC:44075 INFERRED 4892175 PGCP1 progastricsin (pepsinogen C) pseudogene 1 1 1 1 p13.2 110174095 110179426 - 111927141 111932473 - 111384519 111389851 - 441897 ABBA01068397;AL356387;AMYH02001727;DV080281;DV080282;NR_029429 Hs.568387 1766063 SHGC-149445 pseudo ENSG00000227179 HGNC:39503 VALIDATED 1321950 PGBD5 piggyBac transposable element derived 5 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq, May 2010] 1 1 1 q42.13 203723266 203779187 - 230457392 230561674 - 230321646 230425928 - 6480464;8554872 12477932;12955498;14702039;18951430;22797925 79605 Q8N414 ABBA01007318;ABBA01033022;ABBA01033023;ABBA01033024;AK021475;AK297321;AK315968;AL133516;AL691479;AL833243;AMYH02002877;AMYH02002878;BC013901;BC027466;BC036865;BC150638;CH471098;CX757968;KF670820;NM_001258311 AAH13901;AAH27466;AAH36865;AAI50639;AGX00581;BAB13832;BAG59784;BAH14339;EAW69912;NP_001245240;Q8N414 Hs.520463 1724847;2140782;2140784;2144973;2158342 A005B21;G20244;RH119186;RH26826;RH64527 DKFZp761A0620;FLJ11413 OTTHUMP00000035879;OTTHUMP00000228879;piggyBac domain related protein 5;piggyBac transposable element-derived protein 5 APPROVED protein-coding HGNC:19405 10148 REVIEWED 1312360 PGBD2 piggyBac transposable element derived 2 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q44 222361518 222374710 + 249200395 249215453 + 248905519 248921254 + 6480464 11247672;12477932;12955498 267002 Q6P3X8 ABBA01002093;AF229602;AI038307;AK123219;AK298248;AL672183;AMYH02003156;BC063785;BX647065;CH471257;NM_001017434;NM_170725;XM_005270333;XM_006711760;XR_246212 AAH63785;BAG53880;BAG60513;CAE46192;EAW57543;EAW57544;EAW57545;NP_001017434;NP_733843;Q6P3X8;XP_005270390;XP_006711823 Hs.602037 1732011;2107493;2166571 Bda84f03;D1S553;PGBD2__6979 OTTHUMP00000038245;OTTHUMP00000038246;piggyBac transposable element-derived protein 2 APPROVED protein-coding HGNC:19399 17837 VALIDATED 1343939 PGD phosphogluconate dehydrogenase 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 9570477 9591593 + 10458884 10480565 + 10399028 10420144 + 1599574;1580863;1625539;6480464;6907045;8699517 15466941;2843500 12477932;12498092;15231747;15489334;16009940;16169070;16196087;18781797;19056867;19615732;19913121;20628086;20639865;20675101;20676096;21044950;21139048;21319273;21444627;21565611;21890473;21906983;21963094;21988832;22053931;22360420;22505724;22677172;2283141;22863883;23000965;23077236;23973484;24550385;24654937;24816145;25027693;3858849;3864603;3932573;4517931;8978909;9920387 5226 K7EJT3;K7ELN9;K7EM49;K7EMN2;K7EPF6;P52209 ABBA01035601;ABBA01035602;ABBA01035603;AK290404;AK296889;AK298830;AK300952;AK303898;AK304423;AL139424;AMYH02000267;BC000368;CD700605;CH471130;NM_002631;U30255 AAA75302;AAH00368;BAF83093;BAG59448;BAG60960;BAG62580;BAG64830;BAG65252;EAW71647;EAW71648;NP_002622;P52209 Hs.464071 1667127;1678311;1751689;1770067;2128123;5017514 PGD;RH39270;RH66785;RH70785;SHGC-105729;SHGC-74199 6PGD 6-phosphogluconate dehydrogenase, decarboxylating;OTTHUMP00000001897 2289516;2289613 BW396_H;BW442_H APPROVED protein-coding ENSG00000142657 HGNC:8891 01391 172200 REVIEWED 7206858 PGGT1BP1 protein geranylgeranyltransferase type I, beta subunit pseudogene 1 10 10 10 q11.23 75642554 75643581 - 52486705 52487729 - 50726945 50727969 - 653895 ABBA01052484;AL589794;AMYH02023055;NG_028750 pseudo HGNC:45024 INFERRED 734288 PGGT1B protein geranylgeranyltransferase type I, beta subunit Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010] 5 5 5 q22.3 110494046 110546088 - 114546527 114599123 - 115210830 115263426 - 729477;1580863;1300048;6480464;8554872 8106351 11076863;12477932;1400319;14598891;15451670;16344560;16893176;19667218;20403997;20446922;21906983;22160308;22632162;22863883;23475391;24816145;7713879 5229 P53609 ABBA01069034;ABBA01069035;AC008494;AL520655;AMYH02012000;AW382606;AY780790;CH471086;DA024020;KC877078;NM_005023;XM_005272020;XM_005272022;XM_005272023 AAI11925;AAI18497;AAV98360;EAW48968;EAW48969;NP_005014;P53609;XP_005272077;XP_005272079;XP_005272080 Hs.254006 1679497;1723785;5113504 RH122222;RH40185;RH68128 BGGI;GGTI GGTase-I-beta;OTTHUMP00000159133;OTTHUMP00000222921;geranylgeranyl transferase type I subunit beta;geranylgeranyl transferase type-1 subunit beta;geranylgeranyltransferase type I beta subunit;geranylgeranyltransferase type i (ggtase-i);type I protein geranyl-geranyltransferase subunit beta APPROVED protein-coding ENSG00000164219 HGNC:8895 03612 602031 VALIDATED 1349691 PGFL placental growth factor-like 23611 HGNC:8894 7254810 PGGT1BP2 protein geranylgeranyltransferase type I, beta subunit pseudogene 2 10 10 q22.3 81651907 81652931 - 79892151 79893175 - 100132402 ABBA01003818;AL512662;AMYH02023411;NG_022149 pseudo HGNC:45112 INFERRED 1344429 PGDP1 phosphogluconate dehydrogenase pseudogene 1 18 18 18 q12.1 26348503 26350090 + 29542092 29543679 + 31962129 31963716 + 342705 ABBA01022500;AC009831;AMYH02034517;NG_022489 1751689;5017514 PGD;SHGC-105729 PGDL1 APPROVED pseudo HGNC:8892 INFERRED 1343838 PGK1P2 phosphoglycerate kinase 1, pseudogene 2 19 19 19 p13.3 12564086 12565877 + 12670299 12672090 + 12559485 12561276 + 2995234;3016919;3502690 5233 ABBA01029791;AC010422;AMYH02035549;NG_001528 PGK2 pseudo HGNC:8899 INFERRED 1351767 PGK1P1 phosphoglycerate kinase 1, pseudogene 1 X X X q12 67641400 67643172 - 67289898 67291670 - 68070056 68071828 - 1549504;1840656;2987238 5231 ABBA01067300;AL158201;AMYH02039639;K03201;NG_001170;NG_008960;X56251 1666781;1679782;1741613;1742279;2119427;2124482;2156642 DXS7497;GDB:181567;GDB:194746;RH10979;RH36157;RH79992;WI-19211 pseudo HGNC:8897 INFERRED 735292 PGC progastricsin (pepsinogen C) This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesized as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009] 6 6 6 p21.1 43257886 43268464 - 41704449 41715139 - 41736711 41747401 - 1580863;6480464;8554872 11915945;12128264;12477932;12508350;12698190;12759353;1280267;14574404;14578117;15200883;15479977;15489334;15503827;15688378;15784253;16842245;16937501;16995475;17255364;17288837;17559360;17567994;18029348;18200011;18256027;18416347;18447628;18844222;1906854;19132389;19173902;19230047;19624876;19731026;20379614;21303408;22066020;23047493;23117263;23178618;23311720;23326145;23455381;24009139;24284944;2515193;2567697;2612209;2909526;3305135;3335549;6794457;6816595;7714902;8125298;8322031;8876968;9267315;9406551;9421118;9794784 5225 A2A3L9;P20142;Q4VXA6 ABBA01050748;AK223274;AK301298;AK301325;AL365205;AMYH02013609;BC042578;BC073740;CH471081;J04443;M18659;M18660;M18661;M18662;M18663;M18664;M18665;M18666;M18667;M23077;NM_001166424;NM_002630;U75272 AAA60062;AAA60063;AAA60074;AAB18273;AAH42578;AAH73740;BAG62855;BAG62874;EAX04059;NP_001159896;NP_002621;P20142 Hs.1867 1742149;1801306;1802770;1808080;1815940;1817128;1817538;1821112;1825960;1826648;1830046;1832700;1832842;1839402;1843336;1979692;1979694;1979696;1979698;1979700;1979702;1979704;1979706;1979708;1979710;1979712;1979714;1979716;1979718;1979720;1979722;1979724;1979726;1979728;1979730;1979732;1979734;1979736;1979738;1979740;1979742;1979744;1979746;1979748;1979750;1979752;1979754;1979756;1979758;1979760;1979762;1979764;1979766;1979768;1979770;1979772;1979774;1979776;1979778;1979780;1979782;1979784;1979786;1979788;1979790;1979792;1979794;1979796;1979798;1979800;2113838;2172051;2173384;2216208;2216210;2216212;2216214;2216216;2216218;2216220;2216222;2216224 ECD01525;ECD02272;ECD05018;ECD09010;ECD09614;ECD09819;ECD11633;ECD14089;ECD14438;ECD16156;ECD17491;ECD17562;ECD20883;ECD22876;GDB:192406;PGC;REN60737;REN60738;REN60739;REN60740;REN60741;REN60742;REN60743;REN60744;REN60745;REN60746;REN60747;REN60748;REN60749;REN60750;REN60751;REN60752;REN60753;REN60754;REN60755;REN60756;REN60757;REN60758;REN60759;REN60760;REN60761;REN60762;REN60763;REN60764;REN60765;REN60766;REN60767;REN60768;REN60769;REN60770;REN60771;REN60772;REN60773;REN60774;REN60775;REN60776;REN60777;REN60778;REN60779;REN60780;REN60781;REN60782;REN60783;REN60784;REN60785;REN60786;REN60787;REN60788;REN60789;REN60790;REN60791;RH46782;SHGC-35331;stSG634977;stSG634979;stSG634981;stSG634982;stSG634983;stSG634984;stSG634985;stSG634986;stSG634987 FLJ99563;PEPC;PGII OTTHUMP00000016377;gastricsin;pepsin C;pepsinogen C;pepsinogen group II;preprogastricsin;progastricsin APPROVED protein-coding ENSG00000096088 HGNC:8890 01357 169740 REVIEWED 1347328 PGF placental growth factor This gene encodes a growth factor found in placenta which is homologous to vascular endothelial growth factor. Alternatively spliced transcripts encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011] 14 14 14 q24.3 55446919 55460674 - 75408533 75422467 - 74941830 74955764 - 1580860;1580863;1642385;1642386;1642387;1642388;1642390;1642394;1642384;2298727;6480464;6483582;6483584;6483783;6483611;6483775;6483777;6483608;6483613;6483614;6483782;6483583;6483602;6483603;6483605;6483606;6483779;6483610;6483589;6483591;6483607;6483574;6483577;6483576;6483586;6483587;6483609;6483588;6483601;6483773;6483572;6483585;6483596;5135245;6483573;1643338;6483612;6483590;6483604;6483571;6483592;6483774;6907045 11939589;12808329;15911697;16020476;16543713;16614757;16633338;16702604;16769024;16843105;16901914;17023518;17157858;17194893;17240241;17483449;17917370;17935226;17980128;18192038;19180491;19276301;19327525;19356732;19952000;20040765;20142801;20195855;20213923;20458050;20649603;20720407;20822327;20889885;21056561;21264946;21329947;21408222;21520176;21756887;21873332;21900081;21988672;22079325;22114497;22119626;22160787;22268141;22270936;22461185 10748121;10783260;10919072;11000388;11069911;11297624;11810642;11811792;11986311;12086892;12091880;12393422;12453985;12477932;12508121;12543719;12548207;12548214;12618519;12673673;12714517;12796773;12824270;13678785;14568550;14568677;14645176;14684734;14741347;15126502;15272021;15489334;15516835;15710418;15886253;15938782;16005848;16146532;16635470;16839256;16864484;17187248;17593833;17696935;17704140;17956952;17981115;17982238;18006829;18079407;18160678;18175241;18258238;18264952;18293205;18306920;18411415;18421240;18566591;18615591;18927470;18945963;19010294;19022893;19135290;19165674;1924389;19293668;19505392;19508152;19602778;19657001;19845534;19956853;20027339;20043119;20091685;20097868;20133349;20137369;20149032;20301202;20335221;20351105;20371352;20451352;20452482;20500895;20509158;20515481;20521248;20673868;20921624;20948996;21062661;21123739;21175428;21215706;21384313;21401353;21464949;21501325;21534854;21568945;21703189;21709213;21715541;21717483;21827221;21867402;21876459;21939291;22000672;22055338;22103490;22170453;22286035;22385934;22386962;22418953;22446996;22498340;22647886;22675957;22683469;22770630;22797069;22902831;22916133;22963269;22988942;23102494;23140147;23209675;23324863;23421942;23444216;23452854;23463017;23496304;23525413;23612628;23645683;23660220;23767832;23782703;23799978;23841853;23844967;23905610;23939615;23957293;23966056;24035323;24118824;24190934;24227191;24340742;24574497;24763231;24772969;25118498;7681160;7929268;8148155;8466755;8786112;9111514;9116151;9207183;9452434;9467961 5228 G3XA84;P49763;Q53XY6;Q86TW6 A18411;ABBA01030712;AC006530;AK309886;AK310608;AK310886;AL543693;AMYH02029526;BC001422;BC007255;BC007789;BT007182;BX248289;BX356823;CH471061;CQ858316;CS067234;CS172367;CS367406;EU332861;HC040687;JX512453;NG_029168;NM_001207012;NM_001293643;NM_002632;S57152;S72960;X54936;XM_005267761 AAB25832;AAB30462;AAD30179;AAH01422;AAH07255;AAH07789;AAP35846;ABM83062;ABM86256;ABY87550;AGC09600;CAA01393;CAA38698;CAD62617;CAH23419;CAI84580;CAJ32891;CAL32761;CBH30536;EAW81207;EAW81208;EAW81209;NP_001193941;NP_001280572;NP_002623;P49763;XP_005267818 Hs.252820 1648740;1659612;2110649;2127716;2132021;2161311 D12S1900;D14S850;G10734;PGF_2125;RH70005;RH70836 D12S1900;PGFL;PLGF;PlGF-2;SHGC-10760 OTTHUMP00000246216;OTTHUMP00000246217;OTTHUMP00000246218;OTTHUMP00000246394;placenta growth factor;placental growth factor, vascular endothelial growth factor-related protein;placental growth factor-like APPROVED protein-coding ENSG00000119630 HGNC:8893 03076 601121 REVIEWED 1351013 PGL2 paraganglioma or familial glomus tumors 2 ASSOCIATED WITH Paragangliomas 2 (inferred) 7240710 7814027 5235 HGNC:8901 601650 1353723 PGK1 phosphoglycerate kinase 1 The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014] X X X q13.3 77600747 77623405 + 77359666 77382324 + 78104169 78126827 + 1580863;1599120;1599123;2302859;2302860;2302795;6480464;6484113;6907045;7240710;8554872;8699517 15720133;16740138;3091090;6405813;6830158 10720297;11130727;11487543;11745195;12080078;12174867;12477932;12488440;12869554;14733918;14764427;15053920;15161933;15255553;1533225;1547346;15489334;15592455;1586722;15952740;16009940;1602151;16196087;16236267;16263121;16363799;16567715;17043677;17081983;17148452;17565005;17661373;18039033;18096512;18288812;1837552;18453750;18540639;18603805;18781797;19110265;19135240;19688824;19738201;19778949;19854185;19946888;20000738;2001457;20068185;20360068;20391533;20562859;20849852;21081666;21110914;21139048;21145461;21319273;21349853;21505655;21549683;21565611;21780947;21853274;21890473;21906983;21963094;22053931;22079093;22145905;22348148;22505724;22586326;22619369;22742733;22939629;23000965;23077236;23130662;23166591;2324090;23336698;2347494;23684636;23703321;23727790;23824909;23862649;24284928;24337577;24376734;24583282;24654937;24816145;25015289;25027693;2814502;2995995;3453121;6099325;6188151;6933565;6941312;7391027;7391028;7440217;7892275;8043870;8075252;8089148;8122886;8615693;8673469;8889548;9023984;9075577;9744480 5230 B4E1H9;P00558;V9HWF4 AB062432;ABBA01029564;ABBA01029565;AK291081;AK295014;AK295182;AK298855;AK301632;AK301740;AK303848;AK310756;AK312280;AL049589;AMYH02039822;AY423725;BC023234;BC103752;BC104837;BC113568;BU677171;CH471104;CR456716;CS037197;D28371;DC336483;EU794645;HB957644;HD015054;L00159;L00160;M11968;M34017;NG_008862;NM_000291;V00572 AAA60078;AAA60079;AAA60103;AAH23234;AAI03753;AAI04838;AAI13569;AAS00488;ACJ13699;ADR82990;BAA05737;BAB93495;BAF83770;BAG35209;BAG58074;BAG58187;BAG60978;BAG63115;BAG64791;BAH13545;CAA23835;CAG32997;CAI63840;CBG13427;CBV26941;EAW98602;EAW98603;EAW98604;NP_000282;P00558 Hs.78771 1666781;1679782;1699164;1724427;1741613;1741865;2119427;2124482;2135806;2136882;2156642 DXS6983E;DXS7497;GDB:181567;GDB:186156;RH103161;RH10979;RH122374;RH36157;RH79992;STS-AA069778;WI-19211 HEL-S-68p;MGC117307;MGC142128;MGC8947;MIG10;PGKA;PRP 2 OTTHUMP00000023595;cell migration-inducing gene 10 protein;epididymis secretory sperm binding protein Li 68p;primer recognition protein 2 APPROVED protein-coding HGNC:8896 02412 300653;311800 REVIEWED 1315936 PGLS 6-phosphogluconolactonase ENCODES a protein that exhibits 6-phosphogluconolactonase activity; INVOLVED IN pentose-phosphate shunt; PARTICIPATES IN pentose phosphate pathway - oxidative phase; pentose phosphate pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH cadmium atom; cyclosporin A; ethanol 19 19 19 p13.2 17524049 17533713 + 17622278 17632097 + 17511469 17521288 + 1580863;2311501;6480464;6907045 971315 10518023;11457850;12477932;15489334;16189514;19056867;21044950;21139048;21906983;24250222;24816145;25027693 25796 M0R0U3;M0R1L2;M0R261;O95336 ABBA01051209;AC010618;AF091091;AJ243972;AMYH02035708;BC014006;BC017706;BG764228;CH471106;NM_012088;XM_005259849 AAC72960;AAH14006;ABM84388;ABM87321;CAB57866;EAW84613;EAW84614;NP_036220;O95336;XP_005259906 Hs.466165 1699264;1729908;2138129 D19S205E;RH103214;SHGC-63517 6PGL protein-coding ENSG00000130313 HGNC:8903 12001 604951 VALIDATED 1351704 PGLYRP1 peptidoglycan recognition protein 1 ENCODES a protein that exhibits peptidoglycan binding; peptidoglycan receptor activity; INVOLVED IN defense response to Gram-positive bacterium; detection of bacterium; pattern recognition receptor signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH 5-fluorouracil; 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 19 19 19 q13.2-q13.3 43327424 43331569 - 46522411 46526556 - 46019153 46023298 - 1580863;6480464 11461926;12477932;12669421;12975309;14506276;14585845;15057824;15140887;15489334;15572450;15769462;15956276;17502600;18643845;18774573;19023966;19056867;19666596;19913121;20628086;21247889;21984701;22037021;9707603 8993 O75594 ABBA01040959;AC007785;AF076483;AF242517;AMYH02036215;AY358936;BC096154;BC096155;BC096156;BC096157;BC101845;BC101847;CH471126;DN998360;NM_005091 AAC31822;AAD38243;AAF99598;AAH96154;AAH96155;AAH96156;AAH96157;AAI01846;AAI01848;AAQ89295;EAW57400;NP_005082;O75594 Hs.137583 MGC126894;MGC126896;PGLYRP;PGRP;PGRP-S;PGRPS;TAG7;TNFSF3L TNF superfamily, member 3 (LTB)-like (peptidoglycan recognition protein) protein-coding HGNC:8904 05393 604963 VALIDATED 1346354 PGLYRP2 peptidoglycan recognition protein 2 This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall glycopeptides, and thus may play a scavenger role by digesting biologically active peptidoglycan into biologically inactive fragments. [provided by RefSeq, Sep 2011] 19 19 19 p13.12 15476268 15487143 - 15579456 15590315 - 15468645 15479504 - 6480464;8554872 11441184;11461926;11752456;12477932;12669421;12754519;12975309;14506276;14702039;15221005;15340057;15340161;16054449;16239516;16335952;16344560;16714290;17975119;18649358;19023099;20237496;7663175 114770 M0QYW3;M0R2W8;Q96PD5 AB073610;ABBA01051116;AC011492;AF384856;AK055882;AK289415;AK292292;AMYH02035661;AY358156;BC136551;BC136552;BC144238;CH471106;DB041324;NM_052890;XM_006722633 AAI36552;AAI36553;AAI44239;AAL05629;AAQ88523;BAB71034;BAD38647;BAF82104;BAF84981;EAW84482;EAW84483;NP_443122;Q96PD5;XP_006722696 Hs.282244 2217736 PGLYRP2_3637 HMFT0141;PGLYRPL;PGRP-L;PGRPL;TAGL-like;tagL;tagL-alpha;tagl-beta N-acetylmuramoyl-L-alanine amidase;OTTHUMP00000198257;peptidoglycan recognition protein L;peptidoglycan recognition protein long;peptidoglycan recognition protein-like APPROVED protein-coding ENSG00000161031 HGNC:30013 10495 608199 VALIDATED 1315351 PGK2 phosphoglycerate kinase 2 This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[provided by RefSeq, May 2010] 6 6 6 p12.3 51309449 51311138 - 49753364 49755053 - 49785651 49787340 - 1580863;6480464;6907045 10330089;12477932;1278465;14574404;15489334;16196087;16344560;18976975;19333399;2027764;2032717;20459611;2156237;21853274;21890473;21906983;21963094;22505724;23000965;24000349;24816145;25027693;2767684;2813402;2886978;2987238;3453121;3839763;6328504;6873461;9023984 5232 P07205 ABBA01050586;AK312770;AL121974;AMYH02013712;BC038843;DB043284;FJ224296;HC007210;HC044715;K03019;NM_138733;X05246 AAH38843;ACI45988;BAG35635;CAA28872;CBH19410;CBH30687;NP_620061;P07205 Hs.367727 2179909 STS-X05246 HEL-S-272;PGK-2;PGKB;PGKPS;dJ417L20.2 OTTHUMP00000016591;epididymis secretory protein Li 272;phosphoglycerate kinase autosomal pseudogene;phosphoglycerate kinase, testis specific APPROVED protein-coding HGNC:8898 01393 172270 REVIEWED 1312063 PGLYRP3 peptidoglycan recognition protein 3 This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls. This protein binds to murein peptidoglycans of Gram-positive bacteria. [provided by RefSeq, Sep 2011] 1 1 1 q21 126341592 126354452 - 153270338 153283194 - 153297862 153310718 - 1580863;6480464;8554872 11461926;12477932;15140887;15489334;16354652;16362825;17207965;17502600;19601998;20237496;21451128;22099350 114771 Q96LB9 ABBA01049433;AL161636;AL591704;AMYH02001902;AY035376;BC069741;BC069798;BC069801;BC128114;BC128115;CH471121;NM_052891 AAH69741;AAH69798;AAH69801;AAI28115;AAI28116;AAK72484;ADQ31968;EAW53338;NP_443123;Q96LB9 Hs.348266 1692096 AL033688 MGC149197;PGRP-Ialpha OTTHUMP00000015920;PGLYRPIalpha;PGRP-I-alpha;PGRPIA;peptidoglycan recognition protein I alpha;peptidoglycan recognition protein I-alpha;peptidoglycan recognition protein intermediate alpha;peptidoglycan recognition protein-I-alpha APPROVED protein-coding ENSG00000159527 HGNC:30014 16297 608197 VALIDATED 4744876 PGDP2 phosphogluconate dehydrogenase pseudogene 2 12 12 12 q21.2 75661195 75662701 + 75993827 75995333 + 75600047 75601553 + 100129649 ABBA01026469;AC022507;AMYH02026775;NG_021727 pseudo HGNC:39144 INFERRED 1318338 PGLYRP4 peptidoglycan recognition protein 4 Peptidoglycan recognition proteins, such as PGRPI-beta, are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls.[supplied by OMIM, Apr 2004] 1 1 1 q21 126373854 126392283 - 153302596 153321039 - 153330120 153348563 - 1580863;6480464;8554872 11461926;12477932;15489334;16354652;16362825;17502600;20237496;20379614;23867815 57115 Q96LB8 ABBA01049433;AF086392;AF242518;AK292203;AL591704;AMYH02001902;AY035377;BC107157;BC107158;BC142636;CA487280;CH471121;NM_020393;XR_241090 AAF99599;AAI07158;AAI07159;AAI42637;AAK72485;BAF84892;EAW53335;EAW53336;EAW53337;NP_065126;Q96LB8 Hs.58356 2180957;2217738 PGLYRP4_3613;SHGC-57657 PGLYRPIbeta;PGRP-Ibeta;PGRPIB;SBBI67 OTTHUMP00000035127;OTTHUMP00000035128;PGRP-I-beta;peptidoglycan recognition protein I beta;peptidoglycan recognition protein I-beta;peptidoglycan recognition protein intermediate beta;peptidoglycan recognition protein-I-beta APPROVED protein-coding ENSG00000163218 HGNC:30015 16298 608198 VALIDATED 1314459 PGM2 phosphoglucomutase 2 ENCODES a protein that exhibits phosphopentomutase activity; INVOLVED IN carbohydrate metabolic process (inferred); deoxyribose phosphate catabolic process (inferred); galactose catabolic process (inferred); PARTICIPATES IN amino sugar metabolic pathway; galactose metabolic pathway; gluconeogenesis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 4 4 4 p14 38268441 38304734 + 37828282 37864559 + 37826660 37862938 + 2304188;6480464;6907045;8554872 9549096 11230166;1192820;1203483;12477932;12665801;14702039;15342556;15489334;17804405;21044950;21139048;21890473;22939629;23000965;23824909;24816145;564278;5885461;752511;752512;7902568;8125298;885546 55276 E7ENQ8;E9PD70;H0Y921;Q96G03 ABBA01074312;ABBA01074313;AC021106;AC108022;AF109360;AI955714;AK001845;AK223237;AK297752;AK303374;AK310927;AL136705;AMYH02009031;BC010087;BP234074;CH471069;CR457274;KF510865;NM_018290;XM_006714020 AAH10087;AAQ13508;AAY41017;BAA91938;BAD96957;BAG60102;BAG64430;CAB66640;CAG33555;EAW92886;NP_060760;Q96G03;XP_006714083 Hs.23363;Hs.607816 1298141;1651909;1671937;1676740;1759307;1767729;2155128;2165464 D4S2806;D4S3040;D4S3300;G41988;SHGC-151167;SHGC-24309;SHGC-37036;SHGC-59668 FLJ10983;MSTP006;PGM 2 OTTHUMP00000123473;glucose phosphomutase 2;phosphodeoxyribomutase;phosphoglucomutase-2 protein-coding ENSG00000169299 HGNC:8906 11761 172000 VALIDATED 6769237 PGM5-AS1 PGM5 antisense RNA 1 9 9 q13 70970105 70972828 - 68355189 68357841 - 12477932;14702039;15233989 572558 AK098218;AL353608;AL449043;AMYH02020918;AY343894;BC017938;CB051276;HG502102;HG502103;NR_015423;NR_121191;NR_121192 Hs.552819 FAM233A;RP11-561O23.6 APPROVED ncrna ENSG00000224958 HGNC:44181 VALIDATED 1604857 PGM5P1 phosphoglucomutase 5 pseudogene 1 9 q21.11 68773919 68809958 - 12421752;14702039;15164053;15233989;15489334;8586438;8631316;9342213 653394 AL591385;AMYH02020841;NG_005636;X90859;Y13478 CAA73882 pseudo HGNC:28452 INFERRED 1601896 PGM5P2 phosphoglucomutase 5 pseudogene 2 INTERACTS WITH copper(2+) sulfate 4 9 9 q12 188365244 188365765 + 69080240 69147854 - 41007011 41074625 - 6480464 12421752;12477932;15233989 595135 AL353763;AMYH02020843;BC007887;BC025351;BX255923;LK938976;NR_002836 Hs.571593 pseudo ENSG00000277778 HGNC:18965 VALIDATED 1346061 PGM5 phosphoglucomutase 5 Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008] 9 9 9 q13 58816 59272 + 70971815 71145977 + 68356899 68531061 + 1580863;6480464;8554872 10867799;12477932;22925353;22939629;25027693;7589238;7890770;8175905;8586438;8631316;9342213 5239 Q15124;Q5JTY7 AA709405;ABBA01009793;ABBA01009794;ABBA01009795;ABBA01033790;ABBA01033791;ABBA01033792;ABBA01033793;AI078570;AI374906;AK297108;AL137698;AL161457;AL353608;AL353616;AL710966;AMYH02020918;AMYH02020919;BC033073;CH471089;L40933;NM_021965 AAC41948;AAH33073;BAG59618;EAW62460;NP_068800;Q15124 Hs.307835 1340787;1341625;1674638 D9S1862;D9S234;STS-L40933 PGM-RP;PGMRP OTTHUMP00000021418;aciculin;phosphoglucomutase-like protein 5;phosphoglucomutase-related protein APPROVED protein-coding ENSG00000154330 HGNC:8908 02990 600981 VALIDATED 8694657 PGM5P3 phosphoglucomutase 5 pseudogene 3 9 9 45408 73865 - 45408 78416 - 101929157 AL449043;AMYH02019022;XR_242519;XR_252496;XR_428433;XR_428434;XR_432362;XR_432363 ncrna HGNC:49604 MODEL 8698943 PGM5P4-AS1 PGM5P4 antisense RNA 1 q14.1 15233989;16344560;8889548 103344932 AA995197;AY343891;CB266081;CF126671;CF127520;DA931978;HG494518;HG494520;NR_121185;NR_121186;NR_121187 Hs.552787;Hs.9015 FAM233C ncrna HGNC:51195 VALIDATED 8698814 PGM5P3-AS1 PGM5P3 antisense RNA 1 9 9 p24.3 72600 89577 + 72600 75295 + 15233989;16344560;8889548 101929127 AL449043;AMYH02019022;AY343892;BM690027;CA406616;DA859889;HG501825;HG501826;NR_121188;NR_121189;NR_121190;XR_242518;XR_252495 Hs.552787;Hs.571626 FAM233B ncrna HGNC:51194 VALIDATED 1316099 PGM2L1 phosphoglucomutase 2-like 1 ENCODES a protein that exhibits glucose-1,6-bisphosphate synthase activity; INVOLVED IN phosphorylation; PARTICIPATES IN starch and sucrose metabolic pathway; INTERACTS WITH 17beta-estradiol; atrazine; benzo[a]pyrene 11 11 11 q13.4 71348131 71416367 - 74041361 74109502 - 74330316 74398457 - 737633;6480464;6907045 12477932 12107410;14702039;15489334;17081983;17804405;20800603;22118674 283209 Q6PCE3 AB019210;ABBA01017489;ABBA01017490;ABBA01017491;ABBA01017492;ABBA01017493;AK056591;AK090777;AL134388;AMYH02025105;AMYH02025106;AP001085;BC059360;BF038662;BX479504;CA391097;CA418308;CH471076;NM_173582 AAH59360;ADZ15592;BAA82756;BAB71227;EAW74937;NP_775853;Q6PCE3 Hs.26612 1769520;2120036;2121883;2136798;2147735;2187104;5022322;5037552 D11S1970;D11S2560;D8S2279;RH11926;RH45004;RH48785;STS-R26860;WI-15948 BM32A;FLJ32029;PMMLP OTTHUMP00000238019;glucose 1,6-bisphosphate synthase;glucose-1,6-bisphosphate synthase;phosphoglucomutase-2-like 1 protein-coding ENSG00000165434 HGNC:20898 11427 611610 VALIDATED 1351096 PGP phosphoglycolate phosphatase ENCODES a protein that exhibits magnesium ion binding (ortholog); nucleotide phosphatase activity, acting on free nucleotides (ortholog); protein tyrosine phosphatase activity (ortholog); INVOLVED IN dephosphorylation (ortholog); peptidyl-tyrosine dephosphorylation (ortholog); PARTICIPATES IN glyoxylate and dicarboxylate metabolic pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper atom; copper(0); copper(2+) sulfate 16 16 16 p13.3 2476021 2479244 - 2261603 2264822 - 2211602 2214821 - 6480464;6907045;8554872 12477932;15260917;15661399;16160620;16344560;17038883;17088979;18640717;20091410;21139048;2164460;21861206;21963094;22990118;24250222;24816145;6273902 283871 A6NDG6;H3BV17 ABBA01030269;AC009065;AK026146;AMYH02031247;AW161386;BC002330;BC035985;CH471112;DA336356;NM_001042371;XR_243274;XR_243275 A6NDG6;AAI56306;AAI57036;EAW85534;NP_001035830 Hs.442634 1662992;1664128;1688514;1722265;1736574;1745955;1778320 AI481330;Bdac6f06;D16S2568E;G60043;RH98228;STS-W86181;WIAF-1628 MGC4692 PGPase protein-coding ENSG00000184207 HGNC:8909 172280 VALIDATED 734179 PGM1 phosphoglucomutase 1 The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010] 1 1 1 p31 62348856 62415793 + 64058947 64125916 + 63593276 63660245 + 1580863;1300048;2304188;2299870;2299871;6480464;6484113;6907045;7240710;8554872;8699517 508567;5259759;9549096 10441333;11785295;11963573;12477932;12608294;12942785;1530890;15378030;15489334;15522220;1602151;16710414;18029348;18091362;18495743;18781797;18854154;19056867;19377068;19430480;20301507;20378605;20379614;20562859;20800603;21044950;21139048;21665994;21832049;21890473;21906983;21963094;22053931;22939629;22990118;23000965;23022198;24499211;3159642;4517931;7902567;7902568;8257433;8586438;8631316;8894274 5236 B4DDQ8;B7Z6C2;P36871 ABBA01074568;AJ243265;AK293298;AK294186;AK298505;AK300100;AK312254;AL109925;AMYH02001155;AMYH02001156;AMYH02001157;AMYH02001158;AMYH02001159;BC001756;BC019920;BC067763;BC090856;BT006961;CH471059;DC373587;M83088;NG_016966;NM_001172818;NM_001172819;NM_002633;S67989;S67998 AAA60080;AAB29177;AAB29178;AAH01756;AAH19920;AAH67763;AAH90856;AAP35607;ABM84712;ABM92235;BAG35186;BAG56819;BAG57502;BAG60712;BAH13208;CAC19809;EAX06559;EAX06560;NP_001166289;NP_001166290;NP_002624;P36871 Hs.1869 1692412;1712064;1743159;1745795;1777421;1790373;2108359;2174191 AL033854;G54079;GDB:277194;GDB:636868;PGM1-2;PGM1_8539;SHGC-74929;WI-9183 CDG1T;GSD14 OTTHUMP00000010519;OTTHUMP00000010520;PGM 1;glucose phosphomutase 1;phosphoglucomutase-1 APPROVED protein-coding ENSG00000079739 HGNC:8905 01389 171900;614921 REVIEWED 1603410 PGM3 phosphoglucomutase 3 This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 6 6 6 q14.1-q15 84311934 84336241 - 83874592 83903655 - 83164873 83193936 - 1625539;2299870;2304188;2299871;6480464;6907045;8699517;7240710;8554872 15466941;508567;5259759;9549096 10721701;11004509;12174217;12477932;12752494;14574404;14702039;15489334;16344560;20221814;203189;20800603;21139048;21145461;21159204;21832049;21890473;21906983;21963094;23000965;23042605;23824909;24589341;24654937;24698316;24778252;24931394;468082;6461922;8125298 5238 D6RC77;D6RCD1;D6RCQ8;D6RF77;D6RIS6;H0Y8I3;H0Y987;J3KN95;O95394;S4R390 AB032081;ABBA01040449;AF102265;AF180371;AK001365;AK021676;AK023432;AK023685;AK023709;AK225363;AK301867;AK314512;AL049699;AL117443;AL121716;AMYH02014012;BC001258;CH471051;DB004046;DB033430;NG_034146;NM_001199917;NM_001199918;NM_001199919;NM_015599;XM_005248728;XM_006715504 AAC72409;AAD55097;AAH01258;BAB00613;BAB14652;BAG37112;BAG51190;BAG63306;CAB55928;EAW48667;EAW48668;EAW48669;EAW48670;EAW48671;NP_001186846;NP_001186847;NP_001186848;NP_056414;O95394;XP_005248785;XP_006715567 Hs.661665 1769666;1788666;2108361;2113834;2162933;2172442 A003M25;AB056792;D6S1162E;PGM3_8540;RH83559;STS-H71321 AGM1;DKFZp434B187;FLJ11614;FLJ13623;IMD23;PAGM;PGM 3 N-acetylglucosamine-phosphate mutase;N-acetylglucosamine-phosphate mutase 1;OTTHUMP00000016791;OTTHUMP00000220839;OTTHUMP00000220840;OTTHUMP00000220841;acetylglucosamine phosphomutase;phosphoacetylglucosamine mutase;phosphoglucomutase-3 APPROVED protein-coding ENSG00000013375 HGNC:8907 01390 172100;615816 REVIEWED 1347680 PGS Pettigrew X-linked mental retardation syndrome ASSOCIATED WITH Mental retardation, X-linked, syndromic 5 (inferred) 7240710 1605216 5242 HGNC:8911 304340 1318787 PGRMC2 progesterone receptor membrane component 2 ENCODES a protein that exhibits heme binding (inferred); steroid binding (inferred); steroid hormone receptor activity (inferred); INVOLVED IN steroid hormone mediated signaling pathway (inferred); FOUND IN membrane; INTERACTS WITH 17beta-estradiol; bleomycin A5; bucladesine 4 4 4 q26 126571320 126590911 - 129190392 129209984 - 128269237 128288829 - 1580863;6480464 12477932;14702039;15489334;15702432;16344560;17081983;18818748;18976975;19019335;19527514;19946888;20140262;20819778;21139048;21890473;22053931;22412018;22939629;23000965;23064006;23793472;23874603;23970345;24250222;8889548;9705155 10424 D3DNX8;O15173;Q8NB07;U3KQ70;U3KQM0 ABBA01044814;AC096898;AJ002030;AK091741;AK094949;AK131272;AMYH02010082;AMYH02010083;BC016692;BC092478;BM699362;CH471056;DB046342;DQ496105;NM_006320 AAH16692;AAH92478;ABF47094;ABM84119;ABM84120;ABM84620;ABM87519;ABM87520;ABM87521;ABM87865;BAC03737;CAA05152;EAX05178;EAX05179;EAX05180;EAX05181;EAX05182;NP_006311;O15173 Hs.507910 1663312;1664613;1683405;1858484;2165004;2165006 A001W34;D4S3304;G19722;RH91160;SHGC-50187;STS-Z41404 DG6;PMBP OTTHUMP00000164481;membrane-associated progesterone receptor component 2;progesterone membrane binding protein;steroid receptor protein DG6 protein-coding ENSG00000164040 HGNC:16089 09665 607735 VALIDATED 733484 PGRMC1 progesterone receptor membrane component 1 This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010] X X X q22-q24 118824941 118833159 + 118370211 118378429 + 119236245 119244466 + 1580863;6480464 11697142;12477932;12493773;14523988;15302935;15489334;15702432;15782218;15970648;16234411;16565220;17081983;17215244;17276356;17353931;18029348;18249431;18319313;18440126;18479732;18782852;18818748;18922159;19019335;19292867;19417032;19527514;19797399;19946888;20140262;20164297;20537145;20538600;21081644;21109987;21131300;21139048;21145461;21148105;21455559;21825115;21890473;21900206;21906983;21918976;22053931;22190034;22245528;22492871;22588913;22939629;23000965;23116217;23246001;23557589;23793472;23798571;23813454;23970345;24332808;24424068;24583282;24816145;9705155 10857 O00264;Q6IB11 ABBA01036706;AC004835;AJ249131;AK293618;AK313956;AMYH02040326;BC034238;CH471161;CR456993;CX762728;DQ496104;HY166171;NG_016756;NM_001282621;NM_006667;R49086;Y12711 AAH34238;ABF47093;ABM82700;ABM85884;BAG36672;BAH11549;CAA73248;CAB65109;CAG33274;EAW89879;EAW89880;EAW89881;EAW89882;NP_001269550;NP_006658;O00264 Hs.90061 1851150;2133161;2185684;5092782;5106124 A006D23;G32326;PGRMC1;RH12552;RH70157 HPR6.6;MPR OTTHUMP00000023897;membrane-associated progesterone receptor component 1;progesterone binding protein APPROVED protein-coding ENSG00000101856 HGNC:16090 02338 300435 REVIEWED 1348411 PGPEP1 pyroglutamyl-peptidase I Pyroglutamyl peptidase I (EC 3.4.19.3) catalyzes the hydrolysis of N-terminal pyroglutamyl residues from oligopeptides and proteins.[supplied by OMIM, Mar 2008] 19 19 19 p13.11 18353176 18382554 + 18451397 18480763 + 18340595 18369953 + 1580863;6480464 12030812;12477932;12651114;14702039;15014037;15380924;16344560;19460752;20379614;20889312;24024966;2575716 54858 M0QX66;M0R0B6;M0R3H3;Q9NXJ5;S4R2Y9;U3KQ24;U3KQG9 ABBA01051258;AC008397;AJ278828;AK000215;AK025948;AK289968;AK294497;AMYH02035730;AMYH02035731;BC004942;BC028063;BC042138;CH471106;DA315740;DB276426;NM_001300927;NM_017712;XM_005259971;XM_006722783 AAH28063;AAH42138;BAA91015;BAF82657;BAG57716;CAC03610;EAW84690;EAW84691;EAW84692;NP_001287856;NP_060182;Q9NXJ5;XP_005260028;XP_006722846 Hs.131776 1337280;1772264;5014063;5015861;5015879;5016478;5016596;5022578;5022651;5037552;5109281;7185938 A006Y23;D10S16;D11S2921;D15S1390;D19S898;D1S1423;D1S1425;D8S2279;GDB:314949;GDB:434012;GDB:631802 FLJ20208;MGC10812;PAP-I;PGP;PGP-I;PGPI;Pcp 5-oxoprolyl-peptidase;pyroglutamyl aminopeptidase I;pyroglutamyl-peptidase 1;pyrrolidone-carboxylate peptidase APPROVED protein-coding ENSG00000130517 HGNC:13568 07141 610694 VALIDATED 3052652 PGPEP1L pyroglutamyl-peptidase I-like ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred) 15 15 15 q26.3 75928408 75967924 - 99511459 99551024 - 98967979 99007795 - 8554872 12477932;20379614 145814 A6NFU8 ABBA01020562;AC036108;AC069029;AK058162;AMYH02031142;AMYH02031143;BC104743;BC104744;BC105686;KF495674;NM_001102612;NM_001167902;XM_006720400 A6NFU8;NP_001096082;NP_001161374;XP_006720463 Hs.592021 1765425 SHGC-148916 pyroglutamyl-peptidase 1-like protein protein-coding ENSG00000183571 HGNC:27080 VALIDATED 1605886 PHACTR3 phosphatase and actin regulator 3 This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 q13.32-q13.33 54920349 55163467 + 58152564 58422766 + 59577509 59847711 + 6480464;8554872 11780052;12477932;12925532;14702039;15107502;15231748;15489334;16169070;16974080;19158953;19473719;19913121;20379614;20628086;21487013;21900206;22135045;22321011;22491018 116154 B7Z339;F6RP66;Q96KR7 AB098521;AB098522;ABBA01005958;ABBA01005959;ABBA01005960;ABBA01005961;AJ311122;AJ617581;AK090812;AK091632;AK098788;AK295459;AK314493;AK316047;AL121908;AL357503;AMYH02037382;AMYH02037383;AMYH02037384;AMYH02037385;BC036834;BC108303;BC117362;BC117364;CH471077;KF456968;KF456969;KF456971;NG_029537;NM_001199505;NM_001199506;NM_001281507;NM_080672;NM_183244;NM_183246 AAI08304;AAI17363;AAI17365;ADR83040;BAC82348;BAC82349;BAG37093;BAG52395;BAH12075;BAH14418;CAC67489;CAF04087;EAW75428;EAW75429;EAW75430;NP_001186434;NP_001186435;NP_001268436;NP_542403;NP_899067;NP_899069;Q96KR7 Hs.473218 1663130;1667171;1705186;1749021;1769346;1848356;1849079;1849081;2136333;2164590;2177167 146;A005Z17;D20S124E;D20S592E;G18086;G20620;RH12475;SHGC-110661;SHGC-80044;Z94463;Z94500 C20orf101;H17739;MGC117178;PPP1R123;SCAPIN1 OTTHUMP00000031424;OTTHUMP00000031425;OTTHUMP00000031426;OTTHUMP00000174466;OTTHUMP00000174467;SCAPININ;phosphatase and actin regulator 3, isoform 1;scaffold-associated PP1 inhibiting protein;scaffold-associated PP1-inhibiting protein APPROVED protein-coding ENSG00000087495 HGNC:15833 10571 608725 REVIEWED 1351091 PHACTR4 phosphatase and actin regulator 4 This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p35.3 27091773 27222657 + 28696093 28826881 + 28369582 28500369 + 1303990;6480464;8554872 15107502 11483580;12477932;12925532;14702039;15302935;15840729;16344560;19322201;19531213;21139048;21832049;21988832;22145905;22863883;23080069;23319639;24250222;24816145 65979 Q8IZ21 AA973468;ABBA01035026;ABBA01035027;ABBA01035028;ABBA01035029;ABBA01035030;ABBA01035031;ABBA01035032;ABBA01035033;AF130081;AK023233;AK024663;AK025436;AL670471;AL705720;AMYH02000626;AMYH02000627;AMYH02000628;AMYH02000629;BC016152;BC021247;BC029266;BC068508;CH471059;CR391992;CR589951;CR749449;CR848752;DA586663;HI574268;HI574270;KF495896;NM_001048183;NM_023923;XM_005245970;XM_006710842;XM_006710843;XM_006710844;XM_006710845;XM_006710846;XM_006710847;XM_006710848;XM_006710849;XM_006710850;XM_006710851;XM_006710852 AAG35507;AAH21247;AAH29266;AAH68508;ADZ15489;BAB14483;BAB15130;CAH18286;CBX47623;CBX47624;EAX07696;EAX07697;EAX07698;NP_001041648;NP_076412;Q8IZ21;XP_005246027;XP_006710905;XP_006710906;XP_006710907;XP_006710908;XP_006710909;XP_006710910;XP_006710911;XP_006710912;XP_006710913;XP_006710914;XP_006710915 Hs.225641 1339443;1651289;1683285;1689344;5015404;5015961;5016478;5016596;5020948;5022578;5037552;5109281 D15S1477;D1S1423;D1S1425;D1S511;D8S2279;G35510;GDB:434012;GDB:631802;L17705;RH17507;SHGC-1596;SHGC-74491 DKFZp686L07205;FLJ13171;MGC20618;MGC34186;PPP1R124;RP11-442N24__A.1 OTTHUMP00000003648;OTTHUMP00000083481 APPROVED protein-coding ENSG00000204138 HGNC:25793 07816 608726 REVIEWED 7775004 PHACTR2P1 phosphatase and actin regulator 2 pseudogene 1 10 10 121574730 121576160 - 119815218 119816648 - 100533676 ABBA01062885;AL133461;AMYH02023912;NG_028754 pseudo HGNC:49488 INFERRED 1606322 PGS1 phosphatidylglycerophosphate synthase 1 ENCODES a protein that exhibits calcium ion binding (ortholog); CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (ortholog); INVOLVED IN cardiolipin biosynthetic process (ortholog); diacylglycerol metabolic process (ortholog); phosphatidylglycerol biosynthetic process (ortholog); PARTICIPATES IN glycerophospholipid metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; mitochondrion (ortholog); INTERACTS WITH quercetin; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q25.3 72968794 73014848 + 76374705 76420740 + 78378624 78424659 + 6480464;6907045;8554872 11171073;11256614;12477932;1538749;16169070;16751776;20686565;20877624;21890473;24097068;24250222;8125298;9880566 9489 B4DLU3;K7EJP6;K7EL44;K7ELT9;K7EPX0;K7EQ89;K7EQF5;Q32NB8;U3KQD9 ABBA01002924;ABBA01002925;ABBA01002926;ABBA01002927;AC061992;AK024529;AK225030;AK296882;AK297156;AK307874;AK309890;AK316147;AK316405;AL359590;AMYH02034054;AMYH02034055;AX268088;AX268090;BC008903;BC015570;BC025951;BC035662;BC108732;BI024108;CH471099;CR749720;DC367136;DQ572622;ES314549;KF456333;NM_024419;NR_110601;NR_110602;NR_111989;XM_005257832;XM_005257833;XR_243691;XR_429928;XR_429929;XR_429930;XR_429931;XR_429932 AAH08903;AAH15570;AAH25951;AAH35662;AAI08733;ABM83739;ABM87058;BAB14921;BAG59443;BAG59655;BAH14518;BAH14776;CAB94876;CAD10244;CAD10245;CAH18487;EAW89523;EAW89524;EAW89525;NP_077733;Q32NB8;XP_005257889;XP_005257890 Hs.654671 1739177;1770338;5124339 D17S1637;RH18538;RH98785 DKFZp762M186;MGC131960 CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial;PGP synthase 1 protein-coding ENSG00000087157 HGNC:30029 17841 614942 VALIDATED 1353173 PHACTR1 phosphatase and actin regulator 1 ENCODES a protein that exhibits actin binding (ortholog); INVOLVED IN actomyosin structure organization; cell motility; stress fiber assembly; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol (ortholog); nucleus (ortholog); INTERACTS WITH 3-methylcholanthrene; cyclosporin A; paracetamol 6 6 6 p24.1 13945879 14520501 + 12716888 13290476 + 12716656 13290244 + 1303990;1580863;6480464;8554872 15107502 11214970;12477932;14574404;14702039;15489334;16344560;17903296;18029348;19198609;20379614;20467438;20738937;20971364;21378988;21378990;21798305;21846871;21939755;22144573;22683712;22745674;22751097;22763476;23042660;23479725;23793025;24262325;24324551 221692 F8W882;H0Y3U1;H0Y518;H0Y7G2;Q4VY12;Q4VY13;Q5R356;Q9C0D0 AA809685;AB051520;ABBA01022119;ABBA01022120;ABBA01022121;ABBA01022122;ABBA01022123;ABBA01022124;ABBA01022125;AK090769;AK290017;AK295263;AL008729;AL354680;AL391385;AL391837;AL591682;AMYH02013122;AMYH02013123;AMYH02013124;AMYH02013125;AMYH02013126;AMYH02013127;AMYH02013128;AMYH02013129;BC047159;BC067280;BC101526;BC101528;BF026507;BQ434462;CH471087;DA253448;DA330657;KF458098;KF458101;NM_001242648;NM_030948;XM_005248933;XM_005248934;XM_005248935;XM_005248936;XM_005248937;XM_006715021;Z99495 AAI01527;AAI01529;BAB21824;BAF82706;BAG52223;BAG58252;EAW55320;EAW55321;NP_001229577;NP_112210;Q9C0D0;XP_005248990;XP_005248991;XP_005248992;XP_005248993;XP_005248994;XP_006715084 Hs.436996 1334921;1336268;1338433;1649628;1664930;1701894;1702838;1716125;1718655;1719607;1728177;1731581;1746791;1748929;1763463;1771008;1777763;1785828;2123553;2146379;2151322;2152366;2154580;2165232;2182488;5015961;5020948;5037552 D15S1477;D15S176;D6S1006;D6S1077;D6S1263;D6S399;D8S2279;G27504;G35510;G63511;G64815;RH121027;RH123015;RH123708;RH46649;RH46685;RH46689;RH46775;SHGC-106172;SHGC-110582;SHGC-147170;SHGC-31295;SHGC-32584;UniSTS:98995;UniSTS:99607;WI-16124;WI-18016;WI-22489 KIAA1733;MGC126575;MGC126577;RPEL;RPEL1;dJ257A7.2 OTTHUMP00000016040;OTTHUMP00000016044;RPEL repeat containing 1 protein-coding ENSG00000112137 HGNC:20990 12283 608723 VALIDATED 1346002 PHAX phosphorylated adaptor for RNA export ENCODES a protein that exhibits RNA binding (inferred); toxic substance binding (inferred); INVOLVED IN gene expression (inferred); ncRNA metabolic process (inferred); protein transport (inferred); FOUND IN intracellular membrane-bounded organelle; nucleolus; nucleus; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; atrazine 5 5 5 q23.2 121893253 121919561 + 125936607 125962944 + 126600915 126627252 + 6480464 10786834;11333016;12477932;14702039;15130578;15489334;15574332;15574333;16687569;19471022;20430857;21139048;21145461;21693764;21900206;22863883;22939629;22990118;23891004;24778252;24816145;8125298 51808 B4DPU2;Q9H814 ABBA01068900;ABBA01068901;ABBA01068902;AC099513;AF086448;AK023255;AK024065;AK225464;AK298497;AMYH02012139;AMYH02012140;AMYH02012141;BC021161;CH471086;CR457305;N44678;NM_032177 AAH21161;ABM84139;ABM87541;BAB14489;BAB14809;BAG60704;CAG33586;EAW48850;NP_115553;Q9H814 Hs.555731;Hs.744042 1698688;1711420;2150002;5016478;5020946;5022450;5126725 A008R20;D10S275;G42194;GDB:434012;L17971;RH102904;SHGC-57751 FLJ13193 OTTHUMP00000159192;RNA U small nuclear RNA export adapter protein;RNA U, small nuclear RNA export adapter (phosphorylation regulated);RNA U, small nuclear RNA export adaptor (phosphorylation regulated);RNUXA;phosphorylated adapter RNA export protein protein-coding ENSG00000164902 HGNC:10241 15122 604924 VALIDATED 1344472 PHACTR2 phosphatase and actin regulator 2 ENCODES a protein that exhibits actin binding (inferred); protein phosphatase inhibitor activity (inferred); INVOLVED IN negative regulation of catalytic activity (inferred); ASSOCIATED WITH Alzheimer Disease; Multiple Sclerosis; Parkinson Disease; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 5-azacytidine 6 6 6 q24.2 144669714 144892732 + 143929317 144152322 + 143608180 143831185 + 1303990;1580863;6480464;6483093;6483097;6483095 15107502;19429005;20546594;20590401 12477932;15146197;17081983;17113583;17474147;19322201;19913121;20379614;20628086;22704111;23108145;23128233;23251661;23333304;24816145;9734811 9749 F5H858;F6TH74;H9KVA6;J3KP75;O75167 AB014580;ABBA01025744;ABBA01025745;ABBA01025746;AK297799;AK298263;AK300221;AL049844;AL078593;AL357117;AL360228;AMYH02014637;AMYH02014638;AMYH02014639;AMYH02014640;BC150630;BC152416;CH471051;CN361694;CR749345;DC361499;DC381966;DN993504;DR004592;DR980875;KF458309;NM_001100164;NM_001100165;NM_001100166;NM_014721 AAI50631;AAI52417;BAA31655;BAG60138;BAG60527;BAG61989;CAH18198;EAW47861;EAW47862;EAW47863;NP_001093634;NP_001093635;NP_001093636;NP_055536;O75167 Hs.102471 1652533;1707668;1723565;1762653;1780410;1849045;1854552;2118194;2118196;2133510;2150599;2152910;2179416 A006K01;AV158170;D6S1079;D6S2110;G20887;RH118604;RH35884;RH46767;SHGC-146452;SHGC-33367;SHGC-82001;STS-T98171;WIAF-1539 C6orf56;DKFZp686F18175;KIAA0680;MGC176642 OTTHUMP00000017336;OTTHUMP00000017338;OTTHUMP00000017339;OTTHUMP00000237229;OTTHUMP00000237230 protein-coding ENSG00000112419 HGNC:20956 16378 608724 VALIDATED 1604641 PHB2 prohibitin 2 INVOLVED IN negative regulation of transcription, DNA-templated; PARTICIPATES IN estrogen signaling pathway; tamoxifen pharmacodynamics pathway; FOUND IN extracellular vesicular exosome; mitochondrion; nuclear matrix; INTERACTS WITH 17beta-estradiol; acetylsalicylic acid; capsaicin 12 12 12 p13 8695534 8700935 - 7074515 7079981 - 6965352 6970823 - 5128512;5130718;6480464 16394250;16822624 10359819;10931946;10938099;11302691;12477932;12943695;15140878;15173318;15231747;15489334;15592455;16541075;17008324;17203973;17353931;17453341;17500595;17558393;17656096;17785450;17932104;18029348;18086671;18255255;18457437;18629613;19117054;19167051;19454010;19496786;19640993;19738201;19906925;20186120;20360068;20562859;20856874;20877624;21081666;21139048;21319273;21853274;21890473;21906983;21963094;21987572;21988832;22190034;22212092;22304920;22384121;22536838;22623428;22751105;22904065;22939629;22990118;23000965;23077317;23125841;23182705;23246001;23275444;23392257;23455922;23548868;23705972;23798571;23863811;24003225;24051437;24337577;24388982;24457600;24522204;24583282;24816145;25027693;8723724;9074930;9259555 11331 B4DW05;F5GWA7;F5GY37;F5H0C5;F5H2D2;F5H3X6;J3KPX7;Q99623;U3KPZ5 ABBA01017670;AF126021;AF150962;AF178980;AF279895;AK298217;AK301316;AMYH02025958;BC013228;BC014766;BC110322;CH471116;NM_001144831;NM_001267700;U47924;U72511;XR_242980 AAB51324;AAC51639;AAD38042;AAF17231;AAF44345;AAH14766;AAI10323;AAK07552;ABM82734;ABW03427;BAG60487;BAG62867;EAW88699;NP_001138303;NP_001254629;Q99623 Hs.504620 1660274;1665703;1701546;2115154;2191659;2217904 D12S1201E;G07372;MARC_4161-4162:996679469:1;REA_2769;RH104406;RH114 BAP;BCAP37;Bap37;MGC117268;PNAS-141;REA;p22 B-cell associated protein;B-cell receptor-associated protein BAP37;D-prohibitin;OTTHUMP00000238920;OTTHUMP00000239843;prohibitin-2;repressor of estrogen receptor activity protein-coding ENSG00000215021 HGNC:30306 17843 610704 VALIDATED 4889281 PHBP11 prohibitin pseudogene 11 1 1 1 q41 197200195 197201000 - 224044284 224045089 - 223856582 223857387 - 644214 ABBA01008153;AC096542;AMYH02002766;NG_022754 pseudo HGNC:39290 INFERRED 4889300 PHBP10 prohibitin pseudogene 10 X X X 104366507 104367288 - 103891900 103892681 - 104647219 104648000 - 100418815 ABBA01019014;AL050401;AMYH02040181;NG_012566;NG_026746 pseudo HGNC:39289 INFERRED 7241992 PHB2P1 prohibitin 2 pseudogene 1 10 10 10 q25.1 105025696 105026588 + 111287877 111288769 + 109528119 109529011 + 645318 ABBA01063041;AL589948;AMYH02023787;NG_022190 2150454 G17465 pseudo HGNC:45249 INFERRED 4889343 PHBP12 prohibitin pseudogene 12 1 1 1 49532403 49533212 + 51246012 51246821 + 50780340 50781149 + 100418820 ABBA01074820;AC091610;AMYH02000994;NG_027089 1335275 D1S427 pseudo HGNC:39291 INFERRED 4889298 PHBP13 prohibitin pseudogene 13 13 13 13 16892054 16892824 + 35825200 35825970 + 35251063 35251833 + 100418843 ABBA01010168;AL357083;AMYH02027855;NG_024915;NG_028156 pseudo HGNC:39292 INFERRED 731081 PGR progesterone receptor This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce two isoforms, A and B. The two isoforms are identical except for the additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Jan 2011] 11 11 11 q22-q23 98069715 98169894 - 100900355 101000544 - 101029624 101129813 - 1601278;1580863;1601277;1642050;2289659;6480464;7248704;4145934;7248711;8699517;7240710 12628841;14557830;15807882;16126772;19698287;21166214;23211561 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5241 P06401;Q8NG42;Q8NG44;Q8NG45 AB084248;AB085683;AB085843;AB085844;AB085845;ABBA01039961;AF016381;AK304853;AL137566;AMYH02025461;AMYH02025462;AP001533;AY212933;AY382151;AY382152;AY525610;CH471065;DQ234979;M15716;NG_016475;NM_000926;NM_001202474;NM_001271161;NM_001271162;NR_073141;NR_073142;NR_073143;X51730;XM_006718858 AAA60081;AAD01587;AAI52915;AAO61671;AAQ96833;AAQ96834;AAS00096;ABB72139;BAB91074;BAC06585;BAC11011;BAC11012;BAC11013;BAG65592;CAA36018;EAW66997;EAW66998;EAW66999;EAW67000;EAW67001;EAW67002;NP_000917;NP_001189403;NP_001258090;NP_001258091;P06401;XP_006718921 Hs.32405;Hs.742403 1669876;1742533;1788342;1788344;1788346;1788348;1788350;2180483 G67471;G67472;G67473;G67474;G67475;GDB:197856;PGR;STS-X51730 NR3C3;PR OTTHUMP00000236114;OTTHUMP00000236115;OTTHUMP00000236117;OTTHUMP00000236119;nuclear receptor subfamily 3 group C member 3 APPROVED protein-coding ENSG00000082175 HGNC:8910 07077 264080;607311 REVIEWED 6481600 PHBP15 prohibitin pseudogene 15 7 7 74155796 74156460 - 74741457 74742121 - 100873752 ABBA01063881;AC083884;AC211433;NG_008179;NG_032243 pseudo HGNC:39294 INFERRED 1343040 PHBP2 prohibitin pseudogene 2 11 11 11 p11.2 43901592 43902397 + 43755309 43756114 + 43733759 43734564 + 8244394 100418837;5247 ABBA01060775;AC068205;AMYH02024678;NG_024480 pseudo HGNC:8914 INFERRED 1349226 PHBP4 prohibitin pseudogene 4 2 2 2 q21 148757608 148758441 + 155143102 155143935 + 154286589 154287422 + 8244394 100418774;5249 ABBA01004813;AC009297;AMYH02005013;NG_023743 1848873 SGC30421 pseudo HGNC:8916 INFERRED 736948 PHB prohibitin This gene is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3' UTR, which is proposed to function as a trans-acting regulatory RNA. Several pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 17 17 17 q21 43936440 43947262 - 47481410 47492267 - 49404048 49414905 - 1580863;2292398;2292409;2292405;2292382;2292403;2292404;2292408;2292406;2292396;2292410;2292402;2292407;6480464;7240710;8699517 10421803;11377649;12376462;12821355;14652295;1540973;16426920;17043753;17465217;17518533;18384941;8062216 10376528;10523633;11076863;11256614;11302691;11517187;11790298;12065415;12085232;12354477;12466959;12477932;12566959;12628297;14500355;14500729;14637159;15047060;15141164;15250827;15274632;15342556;15378209;15489334;15489336;15614618;15823758;1602151;16041367;16130169;16196087;16210410;16226712;16236267;16294014;16319068;16381901;16705168;1684951;16918502;16951178;16964284;17004108;17081983;17203973;17284347;17324931;17544200;17676665;17873902;17932104;18029348;18086671;18183577;18258228;18397521;18487222;18494604;18676680;18709484;18763282;18781797;18789835;19034380;19071013;19170196;19207009;19238206;19327358;19430483;19454010;19591124;19615732;19625176;19640993;19655254;19664078;19692168;19710421;19725029;19725052;19738201;19805454;19854158;19906925;20069396;20133800;20134482;20186120;20186755;20195357;20195544;20301425;20360068;20391533;20462248;20516557;20562859;20596663;20638487;20830747;20856874;20877624;21061155;21081666;21139048;21145461;21152868;21155232;21209023;21275458;21296110;21318481;21319273;21783252;21853274;21879722;21890473;21896168;21903368;21906983;21963094;22124450;22179832;22190034;22212092;22238093;22268729;22304787;22304920;22324369;22363587;22410782;22505583;22536838;22537547;22623428;22669161;22711522;22728421;22904065;22939629;22994754;22997079;23000965;23077317;23098474;23125841;23166591;23244120;23246001;23254330;23275444;23327602;23364796;23535732;23587357;23705972;23715748;23752268;23798571;23870455;23874603;24023253;24133204;24133587;24140708;24247619;24380853;24388982;24402549;24457600;24470505;24568222;24583282;24732013;25027693;7607556;7796893;7843414;8125298;8244394;8401585;8591812;8612677;8706794;8889548;9629920 5245 A8K401;C9JW96;C9JZ20;D6RBK0;E7ESE2;E9PCW0;P35232;Q53FV0 AA357151;AA709387;ABBA01041207;AC091180;AK223181;AK290766;AK302258;AK307767;AK312649;AMYH02033574;AY577780;BC013401;BC095460;BE729762;BF038604;BG029858;BI871461;BM972128;BP267961;BQ574485;BT007411;CH471109;CR541706;CS415664;CX784018;DC360133;FJ224341;FJ460516;L14272;NG_023046;NM_001281496;NM_001281497;NM_001281715;NM_002634;S85655;U17179;U49725 AAA86691;AAB21614;AAH13401;AAH95460;AAO18340;AAP36079;AAS88903;ACI46033;ACS44653;BAD96901;BAF83455;BAG35532;BAG63609;CAG46507;CAL38496;CAL48156;EAW94680;EAW94681;NP_001268425;NP_001268426;NP_001268644;NP_002625;P35232 Hs.514303 1687696;2180234;5037352;5121451 D17S895E;RH11580;RH91824;SHGC-32028 HEL-215;HEL-S-54e;PHB1 OTTHUMP00000165764;OTTHUMP00000165765;OTTHUMP00000165766;OTTHUMP00000220103;OTTHUMP00000220170;OTTHUMP00000220171;epididymis luminal protein 215;epididymis secretory sperm binding protein Li 54e APPROVED protein-coding ENSG00000167085 HGNC:8912 01454 114480;176705 REVIEWED 4889244 PHBP7 prohibitin pseudogene 7 9 9 9 q21 59085692 59087060 + 88513746 88515114 + 85898831 85900199 + 548599 ABBA01034046;AL353743;AMYH02021146;AMYH02021147;NG_005066 pseudo HGNC:39286 INFERRED 1344857 PHBP1 prohibitin pseudogene 1 6 6 6 q25 151098265 151100082 + 150363622 150365447 + 150042486 150044311 + 8244394 5246 ABBA01025669;AL355497;AMYH02014701;L14273;NG_001171 pseudo HGNC:8913 INFERRED 1351735 PHBP3 prohibitin pseudogene 3 1 1 1 p32.1 57753460 57754275 + 59465348 59466163 + 58999676 59000491 + 18397521;8244394 391044;5248 ABBA01074652;AC105277;AMYH02001100;NG_022781 pseudo HGNC:8915 INFERRED 6481597 PHBP14 prohibitin pseudogene 14 4 4 168569581 168569947 + 167648430 167648796 + 100873751 ABBA01070321;AC068127;AMYH02010467;NG_032242 pseudo HGNC:39293 INFERRED 1319414 PHC1 polyhomeotic homolog 1 (Drosophila) This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008] 12 12 12 p13 10604723 10631471 + 9067292 9094063 + 8914696 8941467 + 1580863;6480464;9479058;9479060;8699517;7240710;8554872 23473600;25065329 10653359;10902910;12167701;12183370;12477932;14973489;15146197;15386022;15489334;15563468;16169070;16189514;18029348;18650381;19322201;19636380;20301772;22321011;22325352;23080069;23207902;23418308;23523425;24097068;24457600;9009205;9121482;9199346 1911 B4DF21;F5GX30;F5GZP4;F5H0T9;F5H6F5;F5H6F9;F5H6P9;H0YGK7;H0YGZ1;H0YH74;J3KQH6;P78364;Q6GMQ3;Q6N083 AB018192;AB018193;AB209063;ABBA01012255;ABBA01012256;ABBA01012257;AC006581;AK293893;AMYH02025995;BC002871;BC017748;BC073964;BC157850;BM473731;BX640639;CH471116;CN388283;CN388285;CN388316;NM_004426;U89277;XM_005253334;XM_005253336 AAC51169;AAH02871;AAH17748;AAH73964;AAI57851;BAA83727;BAD92300;BAG57282;CAE45787;EAW88600;EAW88601;NP_004417;P78364;XP_005253391;XP_005253393 Hs.744902 1685035;2153235;5095716;5111943 G27371;G43249;G59818;RH104 EDR1;HPH1;MCPH11;RAE28 OTTHUMP00000238481;OTTHUMP00000238482;OTTHUMP00000238483;Rae28-like;early development regulator 1 (homolog of polyhomeotic 1);early development regulatory protein 1;polyhomeotic 1-like;polyhomeotic-like 1;polyhomeotic-like protein 1 APPROVED protein-coding ENSG00000111752 HGNC:3182 16009 602978;615414 REVIEWED 4889273 PHBP9 prohibitin pseudogene 9 10 10 10 q24.31 95745997 95746777 + 102007952 102008981 + 100248195 100249224 + 100289414 ABBA01063229;AL138921;AMYH02023651;NG_028967 1706060;1857576;2186054;2191669 MARC_4339-4340:996679552:1;RH66207;SHGC-30533;SHGC-80065 FLJ30751 pseudo HGNC:39288 INFERRED 4889299 PHBP8 prohibitin pseudogene 8 3 3 3 117919778 117920500 + 119510676 119511397 + 119791829 119792550 + 100418804 ABBA01061576;AC069444;AMYH02007505;NG_025728 1658764;2138608;2143418;2191669;5092682 A005P48;G32262;MARC_4339-4340:996679552:1;SHGC-77233;STS-T26531 pseudo HGNC:39287 INFERRED 6481408 PHEX-AS1 PHEX antisense RNA 1 X X 22180849 22191100 - 22162732 22172983 - 14702039 100873942 ABBA01072045;AK095185;AMYH02039006;HG512459;NG_007563;NR_046639;R45441;Y10196 Hs.633194 1778599 WI-13816 APPROVED ncrna ENSG00000224204 HGNC:40445 VALIDATED 2299189 PHC1P1 polyhomeotic homolog 1 (Drosophila) pseudogene 1 12 12 12 q13.2 55457025 55460551 - 55803470 55808727 - 55409686 55414943 - 653441 ABBA01008383;AC125816;AMYH02026546;NG_009754 1685035 RH104 PHC1B APPROVED pseudo HGNC:34502 INFERRED 1354183 PHF10P1 PHD finger protein 10 pseudogene 1 X X X q28 154679675 154681342 + 154521164 154522831 + 155291939 155293441 + 11827455 158905 ABBA01029138;AC234781;AF338734;AL356738;AMYH02040867;NG_012497;NG_029355 XAP135P pseudo HGNC:23210 INFERRED 1313192 PHF10 PHD finger protein 10 This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008] 6 6 6 q27 170814186 170834281 - 170104001 170124106 - 169703905 169724010 - 6480464;8694154;9495920 21358755;23355908 11827455;12477932;14574404;14702039;15302935;15489334;16169070;16189514;17081983;18654987;19471022;20068294;20305087;20360068;20530714;21693764;21890473;21980299;21988832;22334708;22939629;23000965;23400010;8125298;8619474;8908511;9110174 55274 Q8WUB8 ABBA01016118;AF338735;AJ420510;AK001837;AK222612;AK296349;AL133094;AL513547;AMYH02015002;BC020954;BC110323;CH471051;CR457273;DB460742;KC839988;KC839989;NM_018288;NM_133325 AAH20954;AAI10324;AAK27451;ABM82358;ABM85533;AGQ46690;AGQ46691;BAA91934;BAD96332;BAG59032;CAG33554;EAW47442;EAW47443;EAW47444;NP_060758;NP_579866;Q8WUB8 Hs.435933 1684216;1769969;1772777;2130036;2130038;2138236;2151082;2156282 A001W43;D6S1117E;D6S1237E;D6S1902;G19729;RH35932;RH36593;RH93665 BAF45A;FLJ10975;MGC111009;XAP135 BRG1-associated factor 45a;BRG1-associated factor, 45-KD, A;OTTHUMP00000211095;OTTHUMP00000211096;PHD finger protein 10, isoform a;PHD zinc finger protein XAP135 APPROVED protein-coding ENSG00000130024 HGNC:18250 11428 613069 REVIEWED 1313935 PHF12 PHD finger protein 12 ENCODES a protein that exhibits phosphatidylinositol binding; RNA polymerase II transcription corepressor activity; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-templated; FOUND IN nucleolus; nucleus; Sin3 complex; INTERACTS WITH 17beta-estradiol; arsenous acid; benzo[a]pyrene diol epoxide I 17 17 17 q11.2 24091687 24137902 - 27232264 27278622 - 28905246 28951490 - 1580863;6480464 10819331;11390640;12391155;12477932;14702039;15302935;15489334;16565220;16893883;17573780;18029348;18187620;19553677;20332121;21440557;21890473;21963094;22990118;23752268;24250222 57649 C9J9G2;J3QQU3;K7EJ43;K7EJN7;K7EJY3;K7EMX6;K7ENU0;K7EPF7;K7EQP5;K7ERZ4;Q2TAK2;Q96QT6 AB040956;ABBA01015036;ABBA01015037;AC024267;AK024290;AK091441;AK160370;AK291420;AK294056;AL161953;AMYH02033233;AY030283;BC001657;BC110882;BC121043;BC121044;CH471159;NM_001033561;NM_001290131;NM_020889;XM_005258015;XM_005258016 AAH01657;AAI10883;AAI21044;AAI21045;AAK38349;BAA96047;BAB14875;BAD18713;BAF84109;BAG57403;EAW51164;EAW51165;EAW51166;EAW51167;NP_001028733;NP_001277060;NP_065940;Q96QT6;XP_005258072;XP_005258073 Hs.444173 1676702;1720097;1762585;2191035;2219496;5015861;5016352;7185938 D10S16;L30021;MARC_13669-13670:1002900020:1;PHF12__5678;RH123790;RH41955;SHGC-146385 FLJ34122;KIAA1523;MGC131914;PF1 OTTHUMP00000163517;OTTHUMP00000163518;PHD factor 1;PHD zinc finger transcription factor protein-coding ENSG00000109118 HGNC:20816 15123 VALIDATED 1321995 PHF11 PHD finger protein 11 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Asthma (inferred); Ige Responsiveness, Atopic (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine 13 13 13 q14.2 31124752 31158072 + 50069746 50103123 + 49495610 49528987 + 1580863;6480464;7240710 10508479;12477932;12754510;15057823;15489334;15674390;16344560;17702965;17703412;18405956;19237393;19247692;19258923;19264973;19386584;19590686;19672052;19951440;19996348;20085599;20421878;20503287;20701904;20716621;20717939;21320718;21348951;21988832;8125298 51131 C9JQV2;C9JWH0;H0Y4X7;J3KR57;Q9UIL8;X6RH80 AB011031;ABBA01051017;ABBA01051018;ABBA01051019;AF155105;AK026228;AK225986;AK293242;AK300410;AL139321;AMYH02028011;AMYH02028012;BC017212;BE621153;CH471075;DA652444;DB050568;NM_001040443;NM_001040444;XM_005266417;XM_006719828;XM_006719829;XM_006719830;XM_006719831;XR_245387 AAD42871;AAH17212;ABM82884;ABM86074;BAA32101;BAG56776;BAG62140;EAX08827;EAX08828;NP_001035533;NP_001035534;Q9UIL8;XP_005266474;XP_006719891;XP_006719892;XP_006719893;XP_006719894 Hs.369039 1663729;2122866;2150129;2159897;2161094;2219494;5015619 D11S3114;G09507;PHF11__PHF11;SHGC-34033;SHGC-34145;STS-AA039375;STS-R48791 APY;BCAP;IGEL;IGER;NY-REN-34;NYREN34;RP11-185C18.3 BRCA1 C-terminus-associated protein;IGHER;IgE responsiveness (atopic);NY-REN-34 antigen;OTTHUMP00000018414;OTTHUMP00000018415;OTTHUMP00000018416;OTTHUMP00000215009;OTTHUMP00000215010;renal carcinoma antigen NY-REN-34 protein-coding ENSG00000136147 HGNC:17024 147050;600807;607796 VALIDATED 1317380 PHC2 polyhomeotic homolog 2 (Drosophila) In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 32060914 32112987 - 33789224 33841194 - 33323623 33431017 - 1580863;6480464;9479058;9479060;8554872 23473600;25065329 10976766;12167701;12384788;12477932;14702039;15094067;15302935;15386022;15489334;15563468;16169070;16189514;16710414;16713569;16751658;18029348;19636380;20379614;20471960;21282530;21675959;21900206;21906983;21988832;22325352;23455924;23667531;24163370;24457600;9121482;9199346 1912 B3KPJ4;Q8IXK0 ABBA01023378;ABBA01023379;AJ242730;AJ419231;AK056429;AK128821;AK292905;AK294426;AL138837;AL513327;AMYH02000733;AMYH02000734;BC015450;BC018602;BC028396;BC029269;BC068573;BC092492;BC110863;BC130630;BC144121;CA949539;CD109667;CH471059;NM_004427;NM_198040;U89278;XM_005270568;XM_005270570;XM_005270571;XM_005270572;XM_006710401;XM_006710402;XM_006710403 AAC51170;AAH15450;AAH28396;AAH29269;AAH68573;AAH92492;AAI10864;AAI30631;AAI44122;BAC87622;BAF85594;BAG51706;BAG57672;CAB44779;CAD11673;EAX07457;EAX07458;EAX07459;EAX07460;EAX07461;EAX07462;NP_004418;NP_932157;Q8IXK0;XP_005270625;XP_005270627;XP_005270628;XP_005270629;XP_006710464;XP_006710465;XP_006710466 Hs.524271 1712148;2122828;2170064 D1S3530;G54124;SHGC-35991 EDR2;HPH2;MGC163502;PH2 OTTHUMP00000004292;OTTHUMP00000004293;OTTHUMP00000004294;early development regulator 2 (homolog of polyhomeotic 2);early development regulator 2-like;early development regulatory protein 2;polyhomeotic 2;polyhomeotic-like 2;polyhomeotic-like 2 (drosophila);polyhomeotic-like protein 2 APPROVED protein-coding ENSG00000134686 HGNC:3183 10340 602979 REVIEWED 1317748 PHF13 PHD finger protein 13 ENCODES a protein that exhibits chromatin binding; INVOLVED IN chromosome segregation; mitotic cell cycle; mitotic chromosome condensation; FOUND IN nucleus; INTERACTS WITH 2-methylcholine; atrazine; benzene 1 1 1 p36.31 5787615 5797954 + 6673756 6684093 + 6613696 6624033 + 1580863;6480464 12477932;14702039;15489334;15825179;16344560;17207965;19638409;21988832;24278021 148479 Q86YI8 AB209544;ABBA01035458;ABBA01035459;AK027492;AK097715;AK315110;AL031447;AL121733;AMYH02000179;AMYH02000180;AY069975;BC007931;BC032792;BC038516;BC048202;CH471130;DB064673;NM_153812 AAH32792;AAH38516;AAL58478;ADQ32511;BAD92781;BAG37568;BAG53519;CAB57324;EAW71561;NP_722519;Q86YI8 Hs.516079 2170020 SHGC-150 MGC43399;PHF5;SPOC1 OTTHUMP00000001577;PHD zinc finger protein PHF5;survival time-associated PHD finger protein in ovarian cancer 1;survival time-associated PHD protein in ovarian cancer protein-coding ENSG00000116273 HGNC:22983 10150 VALIDATED 1344150 PHF1 PHD finger protein 1 This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 6 6 6 p21.3 34933196 34938653 + 33378773 33384230 + 33410996 33416453 + 1580863;6480464;9479148;9479074 23642229;24035451 11571280;12477932;14574404;15489334;15576338;16189514;16344560;18086877;18285464;18385154;18722875;18976975;19204726;19322201;19851445;20873783;21167174;21890473;22315224;22796436;22918161;23104054;23142980;23150668;23211293;23228662;23879974;23887158;23954330;24285434;24457600;24530230;8125298;8889548;9545646 5252 A2AB22;A2AB23;A2AB25;E9PQT8;E9PQZ5;O43189 ABBA01038148;AF029678;AF052205;AK225913;AK295412;AK299162;AK316499;AL021366;AL050332;AL662799;AMYH02013486;BC008834;BX088650;CB242267;CH471081;DA065298;DA872118;NM_002636;NM_024165;NR_027692;XM_006715109;XM_006715110;XM_006715111;XM_006726097;XM_006726098;XM_006726099 AAC13273;AAC52062;AAH08834;ABM87418;ABW03882;BAG58363;BAG61210;BAH14870;CAA16158;CAA16159;CAC38366;CAC38367;EAX03729;EAX03730;NP_002627;NP_077084;O43189;XP_006715172;XP_006715173;XP_006715174;XP_006726160;XP_006726161;XP_006726162 Hs.166204 1695020;1851236;1853518;2107497;2123248;2126620;2128792;2178560;2191733;5017797 D6S1834;G44723;MARC_5865-5866:996691399:1;PHF1;PHF1__6984;RH1523;RH15807;STS-D14678;STS-Z40841;STS-Z41506 MTF2L2;PCL1;PHF2;TDRD19C;hPCl1;hPHF1 OTTHUMP00000029139;OTTHUMP00000029140;OTTHUMP00000178725;OTTHUMP00000233814;polycomb-like protein 1;tudor domain containing 19C APPROVED protein-coding ENSG00000112511 HGNC:8919 04195 602881 REVIEWED 1317513 PHC3 polyhomeotic homolog 3 (Drosophila) ENCODES a protein that exhibits DNA binding (inferred); zinc ion binding (inferred); INVOLVED IN multicellular organismal development (inferred); PARTICIPATES IN histone modification pathway; FOUND IN actin cytoskeleton; intracellular membrane-bounded organelle; nucleus; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; cobalt dichloride 3 3 3 q26.2 168204684 168298819 - 169805368 169899537 - 170087580 170181749 - 1580863;6480464;9479058;9479060 23473600;25065329 12167701;12384788;12477932;14702039;15174051;15302935;15342556;15489334;16565220;17001316;17081983;18029348;19471022;19636380;20491773;22325352;22724443;23667531;23942079;24250222;24457600;24816145 80012 B4DTC4;C9J6H0;C9J6P8;C9JAU4;C9JYH7;E7EX82;F8WDA4;G5E9U7;H7C4H9;H7C528;Q8NDX5 ABBA01058692;ABBA01058693;ABBA01058694;ABBA01058695;ABBA01058696;AC008040;AC023891;AF380154;AF444193;AI042019;AJ320486;AK022791;AK023029;AK300151;AK304411;AMYH02008107;AMYH02008108;AMYH02008109;AMYH02008110;BC022325;BC026001;BC070164;BC112944;BC131772;BC131773;BP200133;BX647868;CH471052;EF560717;NM_024947;XM_005247789;XM_005247790;XM_005247791;XM_005247793;XM_006713753;XM_006713754;XM_006713755;XM_006713756;XM_006713757;XR_241509 AAH22325;AAH70164;AAI31773;AAM46139;AAM51781;ABQ59027;ACE87823;ACT64381;BAB14245;BAB14365;BAG61936;BAG65243;CAC86587;CAI46090;EAW78516;EAW78517;EAW78518;EAW78519;EAW78520;EAW78521;EAW78522;EAW78523;NP_079223;Q8NDX5;XP_005247846;XP_005247847;XP_005247848;XP_005247850;XP_006713816;XP_006713817;XP_006713818;XP_006713819;XP_006713820 Hs.529592;Hs.694467 1654020;1754663;1769149;2116500;2152892;2173684;2187442;2217740;5015959;5037554 D10S2448;D8S2282;PHC3_3678;RH36479;RH48268;SHGC-133019;SHGC-59931;SHGC-60175;STS-N62444;STS-Z40983 DKFZp313K1221;EDR3;FLJ12729;FLJ12967;HPH3;MGC88144 OTTHUMP00000213462;OTTHUMP00000213464;OTTHUMP00000213468;early development regulator 3;early development regulatory protein 3;homolog of polyhomeotic 3;polyhomeotic like 3;polyhomeotic like 3 (drosophila);polyhomeotic-like protein 3 protein-coding ENSG00000173889 HGNC:15682 10149 VALIDATED 1321268 PHF19 PHD finger protein 19 ENCODES a protein that exhibits methylated histone binding; INVOLVED IN positive regulation of histone H3-K27 methylation; PARTICIPATES IN histone modification pathway; FOUND IN ESC/E(Z) complex; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; 17beta-estradiol 9 9 9 q33.2 94266198 94288032 - 123617929 123657168 - 120855651 120894896 - 6480464;9479148;9479074 23642229;24035451 12477932;14702039;15563832;16341674;17207965;19503088;21143197;21383967;22315224;22487681;23160351;23228662;23455924;24390342;24457600 26147 B0QZ50;B0QZ51;B0QZ72;B3KV88;B7Z887;B7Z8H3;F5H8K3;Q5T6S3;X6RER8 AA743545;ABBA01016240;ABBA01016241;ABBA01016242;AC006430;AI193743;AI369987;AK122744;AK302996;AK303433;AL117477;AL161911;AL354792;AMYH02021572;AMYH02021573;AMYH02021574;AMYH02021575;BC022374;BC044224;BC108663;BC125076;BC125077;BM784783;BM784790;BU632411;BX640713;CH471090;HY013521;NM_001009936;NM_001286840;NM_001286842;NM_001286843;NM_015651;NR_104601;XM_005251906;XM_006717045;XM_006717046;XM_006717047;XM_006717048;XR_428521 AAH22374;AAI08664;AAI25077;AAI25078;ADQ32204;BAG53700;BAH13873;BAH13959;CAB55950;CAE45832;EAW87475;EAW87476;EAW87477;EAW87478;NP_001009936;NP_001273769;NP_001273771;NP_001273772;NP_056466;Q5T6S3;XP_005251963;XP_006717108;XP_006717109;XP_006717110;XP_006717111 Hs.460124 1729888;1738283;2109647;2148227 D9S116;D9S317;PHF19_9466;SHGC-32814 MGC131698;MGC149712;MGC149713;MGC23929;MTF2L1;PCL3;TDRD19B;hPCL3 OTTHUMP00000021996;OTTHUMP00000021998;OTTHUMP00000021999;OTTHUMP00000197611;polycomb like 3;polycomb-like 3;polycomb-like protein 3;tudor domain containing 19B protein-coding ENSG00000119403 HGNC:24566 17846 609740 VALIDATED 1605683 PHF20 PHD finger protein 20 ENCODES a protein that exhibits histone acetyltransferase activity (H4-K16 specific); histone acetyltransferase activity (H4-K5 specific); histone acetyltransferase activity (H4-K8 specific); INVOLVED IN histone H4-K16 acetylation; histone H4-K5 acetylation; histone H4-K8 acetylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; histone acetyltransferase complex; MLL1 complex; INTERACTS WITH Aroclor 1254; arsane; arsenic atom 20 20 20 q11.22-q11.23 31108215 31286573 + 34359923 34538292 + 35772001 35950370 + 6480464;8554872 11703362;11780052;12097419;12477932;12800201;14702039;15489334;15906353;15960975;16415788;16751776;17081983;18029348;18478111;19473719;20360068;20467438;20479123;21963094;22334668;22449972;22864287;22939629;22975685;23793025;23797602;24250222;24675105;8889549 51230 B0QYY0;B0QZ19;F8WCQ1;Q5JWZ0;Q5JXL1;Q9BVI0 ABBA01019133;ABBA01019134;ABBA01019135;ABBA01019136;ABBA01019137;ABBA01019138;ABBA01019139;ABBA01019140;ABBA01019141;ABBA01019142;ABBA01019143;ABBA01019144;ABBA01019145;ABBA01019146;ABBA01019147;ABBA01019148;AF220416;AF258787;AF348207;AK054597;AK090798;AK097498;AK314503;AL078461;AL109965;AL137330;AL356422;AL357374;AL558423;AMYH02037007;AMYH02037008;AMYH02037009;AMYH02037010;AMYH02037011;AY027523;AY134747;BC006415;BC016948;BC022933;BC048210;BC062681;BC080598;BC093405;BC150178;BG778940;BM906582;BX643875;CD690482;CH471077;DQ599920;L09749;NM_016436;XM_005260421 AAF34184;AAG49888;AAH48210;AAH80598;AAH93405;AAI50179;AAK13046;AAK19748;AAN08621;BAG37103;BAG53476;EAW76153;EAW76154;EAW76155;EAW76156;EAW76157;EAW76158;NP_057520;Q9BVI0;XP_005260478 Hs.517044 1335674;1679233;1722791;1770347;1774806;1848758;1849099;2125586;2137751;2151888;2159929;5014051;5015404;5015619;5016478;5021228;5022463;5022578;5024413;5037552 A003B07;AFM240wf8;D11S3114;D1S1423;D20S1058;D20S564E;D20S909;D3S1673;D8S2278;D8S2279;G60337;GDB:312794;GDB:434012;L17705;L17877;RH107;RH15995;RH98357;T03643;Z94588 C20orf104;FLJ33479;GLEA2;HCA58;NZF;TDRD20A;TZP OTTHUMP00000030807;glioma-expressed antigen 2;hepatocellular carcinoma-associated antigen 58;novel zinc finger protein;transcription factor TZP;tudor domain containing 20A protein-coding ENSG00000025293 HGNC:16098 08514 610335 VALIDATED 1354499 PHF21A PHD finger protein 21A The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010] 11 11 11 p11.2 46098473 46290814 - 45950870 46142985 - 45929319 46121434 - 6480464;8554872 11214970;12032298;12477932;12493763;14702039;15325272;15489334;16079794;16140033;16189514;17394647;17643375;17687328;18501190;19322201;19439607;20379614;20953165;21102462;21252943;22770980;23752268;24144296 51317 E9PLU5;E9PLV4;E9PN72;E9PNN4;E9PNW9;E9PQM3;E9PR02;E9PS51;H0YCI1;H0YCM5;H0YEK2;Q96BD5 AB051483;ABBA01060753;ABBA01060754;ABBA01060755;ABBA01060756;AC024475;AC068385;AC129913;AF208848;AK021530;AK023258;AL359593;AL359608;AMYH02024694;AMYH02024695;AMYH02024696;AY090777;BC015714;BX648236;CB266669;CH471064;KF455382;NM_001101802;NM_016621;XM_005252962;XM_005252963;XM_005252964;XM_005252965;XM_005252967;XM_005252970;XM_006718247;XM_006718248;XR_242810 AAF64262;AAH15714;AAM09095;ABZ92334;BAB13839;BAB14492;BAB21787;CAH10542;EAW68012;EAW68013;EAW68014;EAW68015;EAW68016;EAW68017;EAW68018;NP_001095272;NP_057705;Q96BD5;XP_005253019;XP_005253020;XP_005253021;XP_005253022;XP_005253024;XP_005253027;XP_006718310;XP_006718311 Hs.502458 1336915;1342091;1658884;1664819;1676760;1681879;1686036;1737781;1769202;1782236;1782404;2119824;2125305;2152836;2180306;2217070 A009A44;BHC80_3825;D11S1319;D11S1385;D11S3382;D11S3979;D11S4411;G31098;RH26848;RH28420;RH46074;RH48958;RH93676;SHGC-105085;SHGC-154733;SHGC-37229 BHC80;BHC80a;BM-006;KIAA1696 BRAF35-HDAC complex protein BHC80;BRAF35/HDAC2 complex (80 kDa);OTTHUMP00000234841;OTTHUMP00000234842 APPROVED protein-coding HGNC:24156 608325 VALIDATED 1606010 PHF20L1 PHD finger protein 20-like 1 ENCODES a protein that exhibits zinc ion binding (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 8 8 8 q24.22 129963424 130036873 + 133787604 133861052 + 132775358 132848807 + 6480464 10810093;12477932;14702039;16344560;16415788;20360068;20479123;21832049;21906983;21988832;22505724;23000965;23314748;23455924;23741361;24492612 51105 A8MUE8;A8MW92;A8MXR8;E5RK91;E9PM57;F8W9L8;H0YC05;H0YDF7;Q9H8G4 ABBA01014204;ABBA01014205;AF151830;AF228727;AF230666;AI913146;AK022280;AK023711;AK025268;AK057961;AK126085;AK290506;AL538135;AMYH02018809;AW014677;AY279109;BC002822;BC015211;BC036953;BC050655;BC056413;BC144654;BF243139;BQ006054;BU195139;BX641040;C15953;CD557358;CH471060;DA196349;DB498348;KF510134;NM_001277196;NM_016018;NM_198513;XM_005250930;XM_005250931;XM_005250932;XM_005250933;XM_005250934;XM_005250935;XM_005250936;XM_005250937;XM_005250938;XM_005250939;XM_005250940;XM_005250942;XM_006716572 A8MW92;AAD34067;AAH15211;AAH50655;AAH56413;AAI56242;AAI57018;AAP33690;BAB14653;BAB15098;BAF83195;BAG54287;EAW92148;EAW92149;EAW92150;EAW92151;EAW92152;EAW92153;EAW92154;NP_001264125;NP_057102;NP_940915;XP_005250987;XP_005250988;XP_005250989;XP_005250990;XP_005250991;XP_005250992;XP_005250993;XP_005250994;XP_005250995;XP_005250996;XP_005250997;XP_005250999;XP_006716635 Hs.304362 1655161;1658984;1667782;1676684;1677852;1688144;1690129;1709832;1755105;1777520;2137116;5016478;5017326;5037552;5109281 D1S1425;D8S2279;D8S377;G32202;GDB:434012;RH81044;RH91375;RH98327;RH99088;SHGC-142036;SHGC-32596;SHGC-57992;SHGC-84736;STS-Z78320;WI-21611 CGI-72;MGC64923;TDRD20B OTTHUMP00000192870;OTTHUMP00000192871;OTTHUMP00000192872;OTTHUMP00000192874;OTTHUMP00000192875;OTTHUMP00000192876;OTTHUMP00000192877;OTTHUMP00000227156;PHD finger protein 20-like protein 1;tudor domain containing 20B;tudor domain-containing protein PHF20L1 protein-coding ENSG00000129292 HGNC:24280 15125 VALIDATED 1344183 PHF21B PHD finger protein 21B ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH methylmercury chloride; paracetamol; mono(2-ethylhexyl) phthalate (ortholog) 22 22 22 q13.31 29188973 29317403 - 45277042 45405809 - 44881162 45009928 - 737633;6480464;8554872 12477932 10591208;14702039;15146197;15461802;15489334;20379614 112885 B0QYW2;B1AHC5;B1AHC6;B7Z657;Q96EK2 ABBA01017841;ABBA01017842;ABBA01017843;ABBA01017844;ABBA01017845;ABBA01017846;ABBA01017847;ABBA01017848;ABBA01017849;ABBA01017850;ABBA01017851;AK091480;AK092243;AK095777;AK297317;AK299836;AL049760;AL079301;AMYH02038507;AMYH02038508;BC012187;CH471138;CN311600;CR456448;KF510604;NM_001135862;NM_001242450;NM_001284296;NM_138415;XM_006724121;XM_006724122;Z83838 AAH12187;BAG52373;BAG52506;BAG53127;BAH12544;BAH13143;CAG30334;CAK54430;CAK54729;EAW73365;EAW73366;EAW73367;NP_001129334;NP_001229379;NP_001271225;NP_612424;Q96EK2;XP_006724184;XP_006724185 Hs.254097 1659093;1700934;1708736;1727897;1728559;1784510;1853056 AL021656;AL022544;G63365;G63569;RH104094;SHGC-154030;SHGC-81585 BHC80L;FLJ34161;PHF4 OTTHUMP00000199355;OTTHUMP00000199356;OTTHUMP00000199357;PHD finger protein 4 protein-coding ENSG00000056487 HGNC:25161 13997 VALIDATED 733664 PHEX phosphate regulating endopeptidase homolog, X-linked The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] X X X p22.2-p22.1 26171770 26387304 + 22050921 22266478 + 22032444 22251310 + 1580863;6480464;7240710;8554872;8699517 10069185;10439971;10460513;10620182;10737991;11004247;11311133;11336925;11409890;11468271;11502821;11502829;11805167;12477932;12678920;12727977;12791601;12874285;15057978;15268897;15337762;15470265;15489334;15772651;15818436;15896324;15940367;16055933;16303832;16437029;16636593;17406123;18046499;18067320;18162710;18172553;18214537;18252791;18455459;18625346;18660670;19219621;19309785;19429806;19513579;19581284;19775205;20424473;20578943;20664300;20817730;20835608;21050253;21293852;21326311;21553362;2163973;21826652;21902707;21902834;22101457;22319799;22339660;22577109;22610502;22695891;22713460;22889924;23079138;23813354;24078575;24489884;24857004;7550339;8889548;9070861;9077527;9097956;9106524;9199930;9199999;9593714;9690034;9768646;9768674 5251 B4DNS0;B4DWG8;B4E334;P78562 ABBA01072032;ABBA01072033;ABBA01072034;ABBA01072035;ABBA01072036;ABBA01072037;ABBA01072038;ABBA01072039;ABBA01072040;ABBA01072041;ABBA01072042;ABBA01072043;ABBA01072044;ABBA01072045;ABBA01072046;ABBA01072047;ABBA01072048;ABBA01072049;ABBA01072050;ABBA01072051;ABBA01072052;ABBA01072053;AD000712;AK298030;AK301528;AK304551;AMYH02039006;AMYH02039007;BC105057;BC105059;BU680665;CH471074;HI574100;KF459021;KF459029;KF510666;NG_007563;NM_000444;NM_001282754;U60475;U73024;U75645;U82970;U87284;Y08111;Y10196 AAB47562;AAB47749;AAB51604;AAC24487;AAC50552;AAD08630;AAI05058;AAI05060;BAG60332;BAG63030;BAG65346;CAA69326;CAA71258;CBX47539;EAW98987;NP_000435;NP_001269683;P78562 Hs.495834 1672879;1677288;1702182;1702782;1778599;7184829 DXS1314;DXS1464;DXS7759;RH80232;WI-13816 HPDR;HPDR1;HYP;HYP1;LXHR;PEX;XLH OTTHUMP00000023051;X-linked hypophosphatemia protein;metalloendopeptidase homolog PEX;phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets);phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets);phosphate regulating gene with homologies to endopeptidases on the x chromosome;phosphate-regulating neutral endopeptidase;vitamin D-resistant hypophosphatemic rickets protein APPROVED protein-coding ENSG00000102174 HGNC:8918 02387 300550;307800 REVIEWED 4109982 PHF2P1 PHD finger protein 2 pseudogene 1 13 13 q11 682184 754323 - 19620293 19692423 - 266695 AL137001;AL832753;AMYH02027607;XR_253147 Hs.742132 1644289;1700906;1737405;1748439 D13S982;G64220;L18228;RH104080 DKFZp686A1627 pseudo HGNC:30241 MODEL 6481555 PHF2P2 PHD finger protein 2 pseudogene 2 13 13 q12.11 19520864 19527032 - 18946724 18952892 - 100873793 ABBA01068542;AC245087;AL355516;NG_032221 pseudo HGNC:38808 INFERRED 1348069 PHF4 PHD finger protein 4 50609 HGNC:8922 1313130 PHF2 PHD finger protein 2 This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008] 9 9 9 q22.31 66780357 66883454 + 96338909 96441869 + 93576627 93679587 + 6480464;7242632;8554872 23200123 10051327;12168954;12477932;18029348;18854154;18990233;20129925;20379614;20953165;21139048;21167174;21890473;22294699;22534467;9734811 5253 E7ET14;O75151 AB014562;ABBA01017681;AF043725;AK294861;AL353629;AL359181;AL834263;AMYH02021239;AMYH02021240;AMYH02021241;AMYH02021242;AMYH02021243;BC028051;BC050112;BC064613;BC152437;BQ716020;BU507256;CB990295;CH471089;NM_005392;XM_005252051;XM_006717143 AAD21791;AAH28051;AAH64613;AAI72253;AAI72560;BAA31637;BAG57965;CAD38938;EAW62867;EAW62868;EAW62869;EAW62870;EAW62871;NP_005383;O75151;XP_005252108;XP_006717206 Hs.211441 1676372;1722249;1728867;1758569;1762141;1779854;2153624 G54542;G60031;RH44280;RH65301;SHGC-146039;SHGC-148780;SHGC-153852 CENP-35;GRC5;JHDM1E;KIAA0662;MGC176680 OTTHUMP00000021685;centromere protein 35;jumonji C domain-containing histone demethylase 1E;lysine-specific demethylase PHF2 APPROVED protein-coding ENSG00000197724 HGNC:8920 05071 604351 REVIEWED 1349780 PHF14 PHD finger protein 14 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN lung alveolus development (inferred); negative regulation of mesenchymal cell proliferation involved in lung development (inferred); negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; atrazine; benzo[a]pyrene diol epoxide I 7 7 7 p21.3 10988278 11184064 + 11013495 11209250 + 10973872 11169623 + 1580863;6480464 11329013;12477932;14702039;15302935;16341674;16344560;17081983;17158748;19471022;20211142;21139048;21693764;21890473;23000965;24250222;24816145;9847074;9872452 9678 B4DG57;E5RHD5;O94880 AA699404;AA837024;AB018326;ABBA01056552;ABBA01056553;ABBA01056554;ABBA01056555;ABBA01056556;ABBA01056557;AC005007;AC007029;AC080064;AC104089;AK123522;AK294419;AK295461;AMYH02015229;BC104657;BC152414;BG182843;BG203538;BM741266;BM773384;BM834437;CH236948;CH471073;DB359297;KF458374;NM_014660;NR_033435;NR_033436;XM_005249908;XM_005249909;XM_005249910;XM_005249911;XM_006715801 AAI52415;BAA34503;BAG57668;BAG58394;EAW93633;EAW93634;EAW93635;EAW93636;NP_055475;O94880;XP_005249965;XP_005249966;XP_005249967;XP_005249968;XP_006715864 Hs.655688 1665877;1679399;1700900;1716423;1752853;1852119;2126150;2144524;5015961;5017547;5037552 D15S1477;D8S2279;GDB:1317854;PHF14;RH104077;RH121392;RH66124;RH91940;SHGC-106709;SHGC-55963;SHGC-55967 MGC176640 OTTHUMP00000197428 protein-coding HGNC:22203 17845 VALIDATED 1348043 PHF5A PHD finger protein 5A This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 25662105 25671092 - 41855721 41864708 - 41459717 41468704 - 6480464;6907045 10591208;12054543;12226669;12234937;12477932;15146077;15461802;15489334;17332742;18076038;19394292;20360068;21890473;21963094;21988832;22365833;22505724;22939629;23000965;23602568;23651857;24457600;24816145 84844 Q7RTV0 ABBA01055637;ABBA01055638;ABBA01055639;AL008582;AMYH02038440;BC007321;BC075808;BK000563;BU584712;CH471095;CR456398;NM_032758 AAH07321;AAH75808;ABZ92207;CAG30284;CAK54387;CAK54686;DAA00074;EAW60433;EAW60434;NP_116147;Q7RTV0 Hs.474980;Hs.707800 INI;MGC1346;Rds3;SAP14b;SF3B7;SF3b14b;bK223H9.2 OTTHUMP00000198827;PHD finger-like domain protein 5A;PHD finger-like domain-containing protein 5A;PHD-finger 5a;splicing factor 3B associated 14 kDa protein;splicing factor 3B-associated 14 kDa protein;splicing factor 3b, subunit 7 APPROVED protein-coding ENSG00000100410 HGNC:18000 15126 REVIEWED 1605766 PHF5CP PHD finger protein 5C pseudogene 19 19 19 p12 19602478 19603311 - 19698415 19699248 - 19587606 19588439 - 12054543 450232 ABBA01051336;AC011448;AMYH02035759;NG_004711 PHF5AP1 pseudo HGNC:32385 INFERRED 1605764 PHF5DP PHD finger protein 5D pseudogene 3 3 3 q13.2 111489399 111490245 - 113080704 113081644 - 113361857 113362797 - 12054543 450238 ABBA01061653;AC026348;AMYH02007447;NG_005422 1696506 SHGC-83142 pseudo HGNC:23268 INFERRED 1605763 PHF5EP PHD finger protein 5E pseudogene 3 3 3 p21.31 49778266 49779086 + 49812689 49813617 + 49775256 49776184 + 12054543 450239 ABBA01024576;AC139451;AMYH02006759;NG_005423 1686604 RH81036 pseudo HGNC:23267 INFERRED 1601853 PHF23 PHD finger protein 23 ENCODES a protein that exhibits zinc ion binding (inferred); INTERACTS WITH 2-methylcholine; atrazine; benzo[a]pyrene diol epoxide I 17 17 17 p13.1 7162996 7167472 - 7138347 7142825 - 7235028 7239716 - 6480464 12477932;14702039;16169070;16344560;17207965;17287853;21139048;22286219;24250222 79142 B3KVH8;I3L0X3;I3L0Y2;I3L1N0;I3L2W6;I3L410;I3L4Q4;Q9BUL5 ABBA01054855;ABBA01054856;AC120057;AI129084;AK026537;AK074766;AK122791;AK122901;AK297040;AMYH02032894;AMYH02032895;AMYH02032896;AY099328;BC002509;BC008630;BY994418;CH471108;CQ783657;DA131173;EF071959;NG_033038;NM_001284517;NM_001284518;NM_024297;XM_005256804;XM_006721576 AAH02509;AAH08630;AAM44129;ABK59097;ADQ31739;BAB15498;BAC11192;BAG53790;BAG59568;CAF86797;EAW90240;EAW90241;EAW90242;EAW90243;NP_001271446;NP_001271447;NP_077273;Q9BUL5;XP_005256861;XP_006721639 Hs.644724 1659680;1687976;1725687 G62047;RH11492;RH26918 FLJ16355;FLJ22884;MGC2941;hJUNE-1b PDH-containing protein JUNE-1;PHD finger protein 23a protein-coding ENSG00000040633 HGNC:28428 612910 VALIDATED 1605762 PHF5FP PHD finger protein 5F pseudogene X X X q23 115329086 115329894 - 114894024 114894832 - 115659704 115660512 - 12054543 450246 ABBA01053711;AC005000;AMYH02040281;NG_005424 pseudo HGNC:23266 INFERRED 1312646 PHF3 PHD finger protein 3 This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 6 6 6 q12 62516983 62584942 + 64345707 64424407 + 63635802 63714511 + 1580863;6480464;8554872 11464277;11856869;12168954;12477932;14574404;14702039;15302935;15345747;15489334;15906353;16964243;17081983;18187620;21890473;22096494;22586326;23324950;23602568;24163370;24457600;9039502 23469 B3KP41;D6R9X2;D6RBF0;D6REP0;E7ER40;E7EVH3;E9PE34;F6UN30;H0Y8L0;Q92576 ABBA01023954;ABBA01023955;ABBA01023956;AF091622;AK025283;AK055678;AK290491;AK298580;AK307869;AK315868;AL050329;AL354719;AL513043;AMYH02013815;AMYH02013816;BC040583;BC113650;BC113652;BX648268;CH471143;CR737498;D87685;NG_034034;NM_001290259;NM_001290260;NM_015153;XM_005248701;XM_005248702;XM_005248703;XM_006715426;XM_006715427 AAF21292;AAI13651;AAI13653;BAA13438;BAF83180;BAF98759;BAG51553;BAG60771;CAI56715;CAM45842;EAW88496;NP_001277188;NP_001277189;NP_055968;Q92576;XP_005248758;XP_005248759;XP_005248760;XP_006715489;XP_006715490 Hs.348921;Hs.731957 1667137;1673979;1751957;1752955;1853944;1853946;2135380 A001T23;D6S1215E;G19628;G35019;SHGC-105953;SHGC-106853;STS-H96569 KIAA0244;MGC142210;MGC142212 OTTHUMP00000016677;OTTHUMP00000217901;OTTHUMP00000217902 protein-coding ENSG00000118482 HGNC:8921 08477 607789 REVIEWED 1605765 PHF5GP PHD finger protein 5G pseudogene 2 2 2 q24.3 162696765 162697533 - 169087840 169088734 - 168231330 168232224 - 12054543 450234 ABBA01004951;AC067940;AMYH02005167;NG_005421 pseudo HGNC:23269 INFERRED 1318527 PHF7 PHD finger protein 7 Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 3 3 3 p21.1 52423849 52436977 + 52444577 52457657 + 52410561 52423641 + 1580863;6480464 11042152;11829468;12477932;15489334;18029348;20098747;21139048;21832049;21926972;22493164;22595675;22894908;23105109;23602568;23974872;7701562;8125298 51533 H7C4N0;H7C5Q8;Q9BWX1;Q9NS08 ABBA01024508;ABBA01024509;AC006208;AC092045;AF151060;AK223531;AK292221;AL137671;AMYH02006801;AY014283;BC022002;BG704704;BG722530;CH471055;HC007212;NM_001278221;NM_016483;XM_005265225;XM_005265226;XM_005265227 AAF36146;AAH22002;AAK27308;ABM81823;ABM84977;BAD97251;BAF84910;CAB70867;CBH19411;EAW65222;EAW65223;EAW65224;NP_001265150;NP_057567;Q9BWX1;XP_005265282;XP_005265283;XP_005265284 Hs.372719 1688915;1715427;1771199;1788698;2121976;2123399 RH120546;RH135811;RH98195;SHGC-37089;SHGC-64306;STS-N58503 DKFZp434L1850;HSPC045;HSPC226;MGC26088;NYD-SP6 OTTHUMP00000212988;OTTHUMP00000212989;OTTHUMP00000212990;OTTHUMP00000212993;testis development protein NYD-SP6 APPROVED protein-coding ENSG00000010318 HGNC:18458 15127 REVIEWED 1354174 PHF6 PHD finger protein 6 This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010] X X X q26.3 133894183 133949652 + 133507324 133562822 + 134373312 134428792 + 6480464;7240710;8554872;8699517 11347906;12415272;12477932;12676923;14714741;14714754;14756673;15241480;15466013;15489334;15635413;15772651;15994862;17081983;17207965;18029348;19264739;20228800;20806366;21030981;21139048;21145461;21736506;21880637;21907836;21987572;22190899;22505724;22720776;22928734;23229552;24092917;24163370;24250222;24457600;24554700;24654937;24816145 84295 Q5JRC6;Q8IWS0 AB058726;ABBA01042433;ABBA01042434;ABBA01042435;ABBA01042436;ABBA01042437;ABBA01042438;ABBA01042439;AC004383;AK290095;AK303369;AK303647;AL591668;AL832725;AMYH02040528;AW297001;AY157622;BC005994;BG122271;CD685336;CF242973;CH471107;DR000282;NG_008886;NM_001015877;NM_032335;NM_032458 AAH05994;AAO13214;ADQ32682;BAB47452;BAF82784;BAG64426;BAG64650;EAX11762;EAX11763;EAX11764;EAX11765;EAX11766;NP_001015877;NP_115711;NP_115834;Q8IWS0 Hs.356501 1650338;1694118;1702218;1748191;1788628;1792648;2113524;2219502;5015961;5016352;5022322;5022578;5037552 AL008911;AL035127;AW549906;D11S2560;D15S1477;D1S1423;D8S2279;DXS10102A10;DXS7827;G66694;L30021;PHF6__5683;PMC156144P1 BFLS;BORJ;CENP-31;MGC14797 Borjeson-Forssman-Lehmann syndrome;OTTHUMP00000024062;OTTHUMP00000024063;OTTHUMP00000024064;OTTHUMP00000024065;PHD-like zinc finger protein;centromere protein 31 APPROVED protein-coding ENSG00000156531 HGNC:18145 02330 300414;301900 REVIEWED 3398935 PHGR1 proline/histidine/glycine-rich 1 INTERACTS WITH calcitriol; testosterone 15 15 15 q15.1 17409218 17414618 + 40643234 40648635 + 40351033 40356434 + 6480464 12477932;16341674 644844 C9JFL3 ABBA01038453;AC013356;AMYH02030237;BC052373;BC061640;BC070498;BC109367;BM854696;NM_001145643 C9JFL3;NP_001139115 Hs.447537 1334929;1759433;1766889 D15S968;SHGC-151196;SHGC-152328 proline, histidine and glycine-rich protein 1 protein-coding ENSG00000233041 HGNC:37226 VALIDATED 1345138 PHIP pleckstrin homology domain interacting protein PHIP binds the pleckstrin homology (PH) domain of insulin receptor substrate-1 (IRS1; MIM 147545), modulates insulin signaling, and plays a role in pancreatic beta cell growth and survival (Farhang-Fallah et al., 2000 [PubMed 11018022]; Podcheko et al., 2007 [PubMed 17636024]).[supplied by OMIM, Jun 2009] 6 6 6 q14 80031409 80175293 - 79644136 79788011 - 78934419 79078294 - 6480464 11018022;12477932;14702039;15009096;16169070;16344560;16949367;16964240;17636024;18781797;19295130;19471022;21139048;21145461;21693764;21890473;22511720;22586326;23000965;23752268;24005052;24457600;25011449 55023 Q8WWQ0 ABBA01040399;ABBA01040400;ABBA01040401;ABBA01040402;ABBA01040403;AF310250;AJ303102;AK000712;AK057039;AK075124;AK127816;AL049321;AL161957;AL356776;AL450327;AMYH02013965;AMYH02013966;BC008909;BC021905;BC036479;BC064611;BC081569;BC137488;BC144670;BI548935;BX537762;CH471051;DA500781;DQ924532;NM_017934;XM_005248729 AAG45145;AAH08909;AAH21905;AAH81569;AAI37489;ABK76299;BAA91336;BAB71353;BAC11417;CAC83118;CAH10776;EAW48717;EAW48718;EAW48719;NP_060404;Q8WWQ0;XP_005248786 Hs.511817;Hs.606356 1684272;1686354;1688738;1710044;1714171;1750189;1770694;1770696;2122854;2184170;2191145;2219506 Bdy14g08;D6S2044;MARC_15335-15336:1013436983:1;PHIP__5685;RH119694;RH46720;RH76061;RH78623;RH80650;RH94050;SHGC-112293;SHGC-82298 BRWD2;DCAF14;FLJ20705;FLJ45918;MGC90216;WDR11;ndrp DDB1 and CUL4 associated factor 14;IRS-1 PH domain-binding protein;OTTHUMP00000016771;PH-interacting protein;WD repeat-containing protein 11 APPROVED protein-coding ENSG00000146247 HGNC:15673 10152 612870 VALIDATED 5488898 PHKA1-AS1 PHKA1 antisense RNA 1 X X 72252518 72275910 + 71908799 71932190 + 100506671 XR_109770 1707528 SHGC-84572 APPROVED ncrna HGNC:40446 2293162 PHKA1P1 phosphorylase kinase, alpha 1 pseudogene 1 1 1 1 p22.2 89606665 89607636 - 91358513 91359484 - 90892956 90893927 - 11181995;12825073 646780 ABBA01045570;AC091614;AMYH02001454;CH471097;NG_007661 EAW73119 pseudo HGNC:33919 INFERRED 1605761 PHF5HP PHD finger protein 5H pseudogene 15 15 15 q26.3 77798969 77799925 - 101386043 101387000 - 100845838 100846795 - 12054543 450250 ABBA01020533;AC015712;AMYH02031165;NG_005425 pseudo HGNC:23264 INFERRED 737224 PHGDH phosphoglycerate dehydrogenase This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011] 1 1 1 p12 118485152 118517585 + 120254419 120286849 + 119711796 119744226 + 1600412;1300048;1580863;6480464;6907045;7240710;8554872;8699517 11055895 10713460;10894924;11034457;11751922;12477932;14702039;15489334;16009940;16196087;16236267;16344560;16710414;16730941;17623298;17643375;17676665;18627175;18781797;19056867;19135240;19223009;19235232;19388702;19404161;19497206;19596686;19738201;19778996;20020773;20360068;20391533;20473970;21081666;21139048;21145461;21319273;21760589;21804546;21832049;21853274;21886157;21890473;21900206;21906983;21963094;21981974;21987572;21988832;22053931;22268729;22360420;22505724;22939629;22990118;23000965;23378610;23455922;23464991;23862649;23956138;24247658;24457600;24583282;24654937;24816145;24836451;25027693;25036637;8758134 26227 O43175;Q5SZU1 ABBA01068518;AF171235;AF171236;AF171237;AF208732;AF208733;AF208734;AF208735;AF208736;AI685723;AK093306;AK129762;AK309662;AK310132;AK315360;AL139251;AL589734;AMYH02001817;AMYH02001818;AMYH02001819;BC000303;BC001349;BC011262;BC023235;BC032110;CH471122;CR456795;DA731339;FJ224347;NG_009188;NM_006623 AAD51413;AAD51414;AAD51415;AAH00303;AAH01349;AAH11262;AAH32110;AAK60573;AAK60574;AAK60575;AAK60576;AAK60577;ABM82999;ABW03347;ACI46039;BAG37755;BAG52685;CAG33076;EAW56707;EAW56708;NP_006614;O43175 Hs.487296 1335830;1696250;1705750;2159740;2162489;2167821;2175614;7185306 A002P44;D1S514;IB441;SHGC-83467;SHGC-83620;T16008;WI-15319 3-PGDH;3PGDH;HEL-S-113;MGC3017;NLS;NLS1;PDG;PGAD;PGD;PGDH;PHGDHD;SERA 3-phosphoglycerate dehydrogenase;D-3-phosphoglycerate dehydrogenase;OTTHUMP00000013926;OTTHUMP00000013927;epididymis secretory protein Li 113 APPROVED protein-coding ENSG00000092621 HGNC:8923 06047 256520;601815;606879 REVIEWED 6767134 PHKA2-AS1 PHKA2 antisense RNA 1 ASSOCIATED WITH GLYCOGEN STORAGE DISEASE IXa1 (inferred); Glycogen Storage Disease, Type IXA2 (inferred) X X X p22.13 23028463 23033142 + 18908414 18913093 + 18890296 18894975 + 8554872 12477932 100132163 ABBA01071703;ABBA01071704;ABBA01071705;AL096700;AMYH02038956;BC073810;HG512456;NR_029379 Hs.607628 1655330;1744553;2130555;2151797;2187497 GDB:526394;RH70923;RH78314;SHGC-33016;STS-X80497 RP3-499B10.4 APPROVED ncrna HGNC:44110 VALIDATED 1344785 PHKA2 phosphorylase kinase, alpha 2 (liver) Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010] X X X p22.2-p22.1 23030465 23122476 - 18910416 19002480 - 18892298 18984362 - 1601388;1580863;2305981;6480464;6907045;7240710;8554872;8699517 10487978;7711737 10330341;12477932;12620389;12862311;12876330;1372435;14684825;14702039;1505214;15231748;15489334;15772651;15851553;16051665;16565220;16600665;17581768;17620599;17689125;1872871;18950708;20360068;21131218;21634085;21857251;21911307;22939629;2303074;23443559;23455922;2387090;5306139;7549948;7847371;8226841;8518797;8733133;8733134;9600238;9835437 5256 P46019 ABBA01071704;ABBA01071705;ABBA01071706;ABBA01071707;ABBA01071708;ABBA01071709;ABBA01071710;ABBA01071711;ABBA01071712;ABBA01071713;ABBA01071714;ABBA01071715;ABBA01071716;ABBA01071717;ABBA01071718;AF044571;AF044572;AK056812;AK092480;AK289996;AL096700;AL732509;AMYH02038956;AY429559;AY429560;AY429561;AY429562;AY429563;BC014036;BC114375;CD722555;CH471074;D38616;DB458123;NG_016622;NM_000292;W63591;X73875;X80497;XM_005274548;XM_005274550;XM_006724496;XM_006724497;XM_006724498;Y15154 AAD32846;AAH14036;ABM84603;ABM86486;BAA07606;BAF82685;CAA52084;CAA56662;CAA75421;EAW98951;NP_000283;P46019;XP_005274605;XP_005274607;XP_006724559;XP_006724560;XP_006724561 Hs.54941 1701844;1702626;1729067;1733382;1744553;1744555;1749569;1791225;2130555;2151797;2187497;2219508;5117370;5117372;5117374;5117376;5117378 497J19_T7;DXS6698;DXS8002;GDB:524045;GDB:526390;GDB:526391;GDB:526392;GDB:526393;GDB:526394;GDB:526395;GDB:604608;PHKA2__5686;Pdha1;RH70923;RH78314;SHGC-111268;STS-X80497 GSD9A;MGC133071;PHK;PYK;PYKL;XLG;XLG2 OTTHUMP00000023007;phosphorylase b kinase regulatory subunit alpha liver isoform;phosphorylase b kinase regulatory subunit alpha, liver isoform;phosphorylase kinase alpha L subunit;phosphorylase kinase alpha-subunit APPROVED protein-coding ENSG00000044446 HGNC:8926 02380 300798;306000 REVIEWED 1343205 PHKB phosphorylase kinase, beta Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010] 16 16 16 q12-q13 32003151 32243373 + 47495047 47735434 + 47461299 47701523 + 1580863;2305981;6480464;6907045;7240710;8554872;8699517 10487978 12477932;12825073;12876330;15489334;16051665;16189514;17689125;17979178;1872871;20360068;20379614;21634085;22939629;23443559;24778252;2757032;8681948;9215682;9326319;9402963;9533876 5257 H3BQ89;H3BV13;I3L0Z1;I3L1N3;I3L213;I3L3F2;I3NHZ9;Q93100 ABBA01013751;AC007599;AC092374;AK123692;AK293122;AK309226;AMYH02031974;AMYH02031975;AMYH02031976;BC033657;CH471092;CR936710;NG_016598;NM_000293;NM_001031835;X84908;X84909;XM_005255983;XM_005255984;Y15155 AAH33657;ABM82280;BAG53937;BAG56674;CAA59332;CAA59333;CAA75422;EAW82700;EAW82701;NP_000284;NP_001027005;Q93100;XP_005256040;XP_005256041 Hs.78060 1653387;1659553;1664034;1677901;1679918;1696636;1715669;1736546;1794222;2159779;5037552 D16S2546E;D8S2279;PMC310830P28;RH119280;RH69896;RH69983;RH70722;RH75229;RH79025;SHGC-61389;SHGC-82951 DKFZp781E15103;FLJ41698 OTTHUMP00000164134;phosphorylase b kinase regulatory subunit beta;phosphorylase kinase beta-subunit;phosphorylase kinase subunit beta APPROVED protein-coding ENSG00000102893 HGNC:8927 01407 172490;261750 REVIEWED 2292063 PHKG1P1 phosphorylase kinase, gamma 1 pseudogene 1 7 7 7 q11.21 58851869 58853152 + 62693341 62694624 - 63232963 63234246 - 12825073 643941 ABBA01006354;AC006455;AMYH02015808;NG_005544 pseudo HGNC:33916 INFERRED 1347460 PHF8 PHD finger protein 8 The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. Defects in this gene are a cause of mental retardation syndromic X-linked Siderius type (MRXSSD). Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] X X X p11.22 57794656 57902802 - 53963113 54075368 - 53936680 54048935 - 1580863;6480464;7240710;7242632;8554872;9586733 22120715;23200123 10398231;10470851;12168954;12477932;14702039;15199551;15302935;15489334;15772651;16199551;16344560;17081983;17594395;17643375;17661819;18498374;19394292;19596686;19843542;20023638;20067792;20101266;20208542;20346720;20421419;20467438;20531378;20548336;20622853;20622854;20644565;20953165;21029866;21057379;21139048;21832049;21963094;22505724;22850744;23022380;23518351;23979597;24146981;24816145 23133 B0QZE1;B0QZZ2;B0QZZ3;B0QZZ4;H0Y3N9;H0Y589;H0Y7M8;H7BZB7;O95327;Q5JPR8;Q9UPP1 AB029034;ABBA01069690;ABBA01069691;ABBA01069692;ABBA01069693;ABBA01069694;ABBA01069695;ABBA01069696;ABBA01069697;ABBA01069698;ABBA01069699;ABBA01069700;ABBA01069701;ABBA01069702;ABBA01069703;ABBA01069704;ABBA01069705;ABBA01069706;ABBA01069707;ABBA01069708;AF091081;AK021696;AK022788;AK027229;AK304272;AL589872;AL732374;AMYH02039478;AMYH02039479;AMYH02039480;AMYH02039481;BC017720;BC042108;BC053861;BE676640;CH471154;CR933612;DA458639;DB079048;NG_021309;NM_001184896;NM_001184897;NM_001184898;NM_015107;XM_005261996;XM_005261997;XM_005261998;XM_005261999;XM_005262000;XM_006724585;Z98051 AAC72950;AAH53861;BAA83063;BAB13877;BAG51116;BAH14147;CAI45929;EAW93167;EAW93168;EAW93169;EAW93170;NP_001171825;NP_001171826;NP_001171827;NP_055922;Q9UPP1;XP_005262053;XP_005262054;XP_005262055;XP_005262056;XP_005262057;XP_006724648 Hs.133352 1336636;1656898;1685439;1701440;1703024;1703034;1719515;1750169;1768567;1847164;2108363;2145043;7186248 DXS337;DXS441;DXS6968;DXS990;PHF8_9310;RH104352;RH123478;RH45985;SGC31978;SHGC-112282;SHGC-59949;STS-N24182 DKFZp686E0868;JHDM1F;KIAA1111;MRXSSD;ZNF422 OTTHUMP00000023362;OTTHUMP00000023363;OTTHUMP00000023364;OTTHUMP00000023366;OTTHUMP00000023367;histone lysine demethylase PHF8;jumonji C domain-containing histone demethylase 1F APPROVED protein-coding ENSG00000172943 HGNC:20672 06599 300263;300560 REVIEWED 733215 PHKA1 phosphorylase kinase, alpha 1 (muscle) Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010] X X X q12-q13 72141887 72277747 - 71798664 71934029 - 72578814 72714181 - 1599897;70269;1599893;1580863;2305981;6480464;6907045;7240710;8554872;8699517 10487978;11692172;12825073;2774570 12477932;12876330;15489334;16344560;18029348;18401027;1872871;20080404;2108025;21139048;21634085;21906983;22238410;22939629;23443559;23455922;2757032;7705849;7874115;8226841 5255 A6NIT2;A6NMN0;P46020 ABBA01046244;ABBA01046245;ABBA01046246;ABBA01046247;ABBA01046248;ABBA01046249;ABBA01046250;ABBA01046251;ABBA01046252;ABBA01046253;ABBA01046254;ABBA01046255;ABBA01046256;ABBA01046257;ABBA01046258;ABBA01046259;ABBA01046260;AC240504;AK123357;AMYH02039708;AMYH02039709;AW450116;BC104944;BC143499;BC143501;BJ998054;BX295541;BX295542;BX647542;CH471213;DA171597;DA998603;DR002787;NG_016599;NM_001122670;NM_001172436;NM_002637;X73874;X73878;XM_006724661 AAI04945;AAI43500;AAI43502;CAA52083;EAW71825;EAW71826;NP_001116142;NP_001165907;NP_002628;P46020;XP_006724724 Hs.201379 1702720;1707528;2131625;2134351;2146582;5015619;5017896;5022651;5037552;5109281;5126690 D11S2921;D11S3114;D1S1425;D8S2279;DXS8347;G31500;GDB:265287;PHKA1;RH46172;RH70895;SHGC-84572 MGC132604;PHKA OTTHUMP00000024287;OTTHUMP00000024288;OTTHUMP00000024289;phosphorylase b kinase alpha subunit;phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform;phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform;phosphorylase kinase alpha M subunit;phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis APPROVED protein-coding ENSG00000067177 HGNC:8925 02415 300559;311870 REVIEWED 2291789 PHKG1P2 phosphorylase kinase, gamma 1 pseudogene 2 7 7 q11.21 62969681 62971337 + 63509303 63510959 + 12825073 644032 AC006457;AMYH02015840;NG_005545 pseudo HGNC:33917 INFERRED 2306326 PHKG1P4 phosphorylase kinase, gamma 1 pseudogene 4 7 7 p11.2 57128220 57129009 - 57060513 57061302 - 9847074 100151641 AC122133;AMYH02015776;NG_007655 pseudo HGNC:33918 INFERRED 1345002 PHKG1P3 phosphorylase kinase, gamma 1 pseudogene 3 11 11 11 p11.12 50399654 50400943 + 50205648 50206933 - 50246477 50247762 - 12825073 5262 ABBA01060660;AC109635;AMYH02024776;NG_005543 PHKGL;PHKg1ps2 pseudo HGNC:8932 INFERRED 1342879 PHKBP1 phosphorylase kinase, beta pseudogene 1 20 20 20 p12.3-p12.2 8148449 8149148 - 8078371 8080533 - 8097724 8099886 - 8681948 5258 ABBA01053921;AL021396;AL050323;AMYH02036678;NG_024957;X85225 pseudo HGNC:8928 INFERRED 1348085 PHKBP2 phosphorylase kinase, beta pseudogene 2 14 14 14 q13.3 16866579 16867105 - 37003032 37003558 - 36533827 36534353 - 8681948 5259 ABBA01061527;AL132857;AMYH02029026;NG_001173;X85226 pseudo HGNC:8929 INFERRED 732798 PHKG2 phosphorylase kinase, gamma 2 (testis) Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 16 16 16 p11.2 29524946 29537900 - 30759574 30772497 + 30748253 30761176 + 1580863;737725;737724;2305981;6480464;6907045;7240710;8554872;8699517 10487978;8896567;9384616 10905889;12477932;12930917;14702039;15489334;16051665;17689125;21634085;23443559;23455922;24816145;2915644;2948189;6962066;7935363;8020963;8889548;8999860;9362479 5261 H3BN16;H3BP07;H3BTI9;H3BTW6;J3KNN3;P15735 AB209055;ABBA01042055;ABBA01042056;AC106886;AK055943;AK289492;AK293551;AMYH02031829;BC002541;BC036735;CA449954;CH471192;M14503;M31606;NG_016616;NM_000294;NM_001172432;S73483;XM_005255363;XM_005255364;XM_005255365;XM_006721054;Y11950;Y11951 AAA36442;AAA36518;AAD14119;AAH02541;ABM83108;ABW03492;BAD92292;BAF82181;BAG57028;CAA72694;EAW52208;EAW52209;EAW52210;EAW52211;NP_000285;NP_001165903;P15735;XP_005255420;XP_005255421;XP_005255422;XP_006721117 Hs.65735 1676350;1677718;1677848;1686246;1690656;5015619;5015861;5016478;5017266;5022200;5022463;5022578;5037552;5118444;7185938 D10S16;D11S3114;D11S3316;D1S1423;D3S1673;D8S2279;GDB:434012;L18426;L18506;RH65200;RH69119;RH79848;RH79900;RH92783 GSD9C;PHK-gamma-LT;PHK-gamma-T;PSK-C3;RP11-2C24.4 OTTHUMP00000163233;Phosphorylase kinase, gamma 2 (testis/liver);phosphorylase b kinase gamma catalytic chain, liver/testis isoform;phosphorylase b kinase gamma catalytic chain, testis/liver isoform;phosphorylase kinase subunit gamma-2;serine/threonine-protein kinase PHKG2 APPROVED protein-coding ENSG00000156873 HGNC:8931 01405 172471;613027 REVIEWED 731844 PHKG1 phosphorylase kinase, gamma 1 (muscle) This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 7 7 7 p11.2 67201579 67213594 - 56147616 56160780 - 56079923 56093079 - 1580863;2305981;6480464;6907045 10487978 10090741;10737616;12387894;12477932;12665801;12825073;12853948;15489334;16051665;16344560;17692548;2297530;2365696;2507540;7706316;7874115;7929096;7935360;8530014;8672716;8999860;9362479;9735171;9771888;9832145 5260 B7Z5U3;B7Z6U2;C9J2Q6;C9JME8;F8WD25;Q16816 ABBA01061850;ABBA01061851;AC092101;AF254250;AF254251;AF254252;AF254253;AK293180;AK299429;AK300928;AK309503;AK312851;AMYH02015750;BC051327;BC069655;BC069679;BC069738;BC069754;BC074753;CH471140;DB171823;NM_001258459;NM_001258460;NM_006213;NR_047689;X80590;XM_005271772 AAH51327;AAH69655;AAH69679;AAH69738;AAH69754;AAH74753;AAL36972;AAS07453;BAG35704;BAH11466;BAH13029;BAH13378;CAA56681;EAX07987;EAX07989;NP_001245388;NP_001245389;NP_006204;Q16816;XP_005271829 Hs.730821 1778638;5017695;5024627;5024649 PHKG1;RH46930;RH71293;SHGC-56973 PHKG OTTHUMP00000159797;PHK-gamma-M;phosphorylase b kinase gamma catalytic chain, skeletal muscle isoform;phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform;phosphorylase kinase gamma;phosphorylase kinase subunit gamma-1;serine/threonine-protein kinase PHKG1 APPROVED protein-coding ENSG00000164776 HGNC:8930 01404 172470 REVIEWED 1321441 PHLDA3 pleckstrin homology-like domain, family A, member 3 ENCODES a protein that exhibits phosphatidylinositol-3,4,5-trisphosphate binding; phosphatidylinositol-3,4-bisphosphate binding; phosphatidylinositol-3,5-bisphosphate binding; INVOLVED IN intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; negative regulation of protein kinase B signaling; positive regulation of apoptotic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; plasma membrane; INTERACTS WITH (-)-demecolcine; (S)-colchicine; 5-fluorouracil 1 1 1 q31 174558492 174562169 - 201434607 201438299 - 201465479 201469171 - 6480464;8554872 10594239;12477932;14702039;15146197;15489334;17353931;18029348;19203586;21753719;21832049;21988832;24912192;8125298 23612 Q9Y5J5 ABBA01027532;AC096677;AF151100;AK075179;AK222644;AK312115;AMYH02002477;BC014390;BC068273;CH471067;CN356697;NM_012396;NR_073080 AAD42081;AAH14390;AAH68273;ADZ16073;BAC11454;BAD96364;BAG35051;EAW91369;NP_036528;Q9Y5J5 Hs.268557 2110651 PHLDA3_1561 TIH1 OTTHUMP00000033919;OTTHUMP00000033920;TDAG51/Ipl homolog 1;pleckstrin homology-like domain family A member 3;pleckstrin homology-like domain, family A, member 2 protein-coding HGNC:8934 09519 607054 VALIDATED 1312382 PHLDA2 pleckstrin homology-like domain, family A, member 2 This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010] 11 11 11 p15.4 2984154 2985301 - 2949503 2950650 - 2928273 2929420 - 6480464 10197590;10594239;10749982;12032310;12374806;12477932;13129680;15489334;15952111;16584773;16964243;17180344;17207965;17303335;17388661;20201924;20484977;20705733;21555518;21906983;21963094;22021909;22100507;22444668;22610481;24268429;8125298;9328465;9403053;9500470;9520460 7262 Q53GA4 ABBA01032077;AC001228;AC013791;AF001294;AF019953;AF035444;AI659266;AK223027;AMYH02024199;BC005034;CH471158;CR407664;NG_009266;NM_003311 AAB86680;AAC17458;AAC51912;AAH05034;ADQ32809;BAD96747;CAG28592;EAX02531;NP_003302;Q53GA4 Hs.154036 1689500;2131535;2217742 PHLDA2_2795;RH39948;RH77915 BRW1C;BWR1C;HLDA2;IPL;TSSC3 OTTHUMP00000012603;beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein;imprinted in placenta and liver protein;p17-BWR1C;p17-Beckwith-Wiedemann region 1 C;p17-Beckwith-Wiedemann region 1C;pleckstrin homology-like domain family A member 2;tumor suppressing subchromosomal transferable fragment cDNA 3;tumor suppressing subtransferable candidate 3;tumor-suppressing STF cDNA 3 protein;tumor-suppressing subchromosomal transferable fragment candidate gene 3 protein;tumor-supressing STF cDNA 3 APPROVED protein-coding ENSG00000181649 HGNC:12385 03679 602131 REVIEWED 733133 PHLDA1 pleckstrin homology-like domain, family A, member 1 This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008] 12 12 12 q15 76086396 76092722 - 76419227 76425556 - 76025447 76031776 - 6480464 10894922;11369516;12384558;12477932;12738777;15002043;15037619;15315823;15489334;16189514;17024176;17211533;17870236;18029348;18641796;19060904;19322201;21558389;21807936;21832049;21906983;22592641;23398472;23489134;23720494;23956138;23962557;24270013;24654937;9417904 22822 Q8WV24;R4GND3 ABBA01026465;AC011611;AF220656;AF239986;AK026181;AK304224;AMYH02026781;BC017756;BC018929;BC037430;BC039558;BC047362;BC065825;BC110820;BC126425;BC130427;CH471054;DR002699;NM_007350;U92983;Z50194 AAF36387;AAF64165;AAH18929;AAI10821;AAI26426;AAI30428;ADZ15884;BAG65096;CAA90576;EAW97312;EAW97313;NP_031376;Q8WV24 Hs.602085 1674958;1698266;1777550;1778207;1778865;2134743;2181829;5015861;5022578;5022651;5037552;5493789;7185938 D10S16;D11S2921;D1S1423;D8S2279;RH102669;RH47245;RH47541;RH68021;SGC32769;STS-N27861;UniSTS:494836;WI-17728 DT1P1B11;MGC131738;PHRIP;TDAG51 OTTHUMP00000242071;PQ-rich protein;PQR protein;T-cell death-associated gene 51 protein;apoptosis-associated nuclear protein;pleckstrin homology-like domain family A member 1;proline- and glutamine-rich protein;proline- and histidine-rich protein;proline-histidine rich protein;t-cell death associated gene APPROVED protein-coding ENSG00000139289 HGNC:8933 05625 605335 REVIEWED 1604636 PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 ENCODES a protein that exhibits catalytic activity (inferred); metal ion binding (inferred); protein serine/threonine phosphatase activity (inferred); INVOLVED IN epidermal growth factor receptor signaling pathway (inferred); Fc-epsilon receptor signaling pathway (inferred); fibroblast growth factor receptor signaling pathway (inferred); PARTICIPATES IN protein kinase C (PKC) signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH acetaldehyde; atrazine; benzene 16 16 16 q22.2 55994913 56064759 - 71678827 71757798 - 71644924 71724701 - 5131497;6480464;8554872 18511290 10231032;11076863;11230166;11256614;12477932;14702039;15489336;15616553;16381901;17386267;19261608;19324870;19615732;20379614;20513427;20605778;21986499;22183406;23184957;23715723;23846336;23856247;24892992 23035 H3BMS5;H3BS75;I3L187;Q3ZCW4;Q6ZVD8 AB023148;ABBA01016780;ABBA01016781;ABBA01016782;AC009097;AK001661;AK001854;AK124678;AMYH02032321;AMYH02032322;AMYH02032323;AMYH02032324;BC035267;BC129927;BC129983;BX647823;BX648157;BX648394;CH471166;NM_001289003;NM_015020 AAH35267;AAI29928;AAI29984;BAA76775;BAA91943;BAC85924;CAL37945;CAL38419;EAW59225;EAW59226;NP_001275932;NP_055835;Q6ZVD8 Hs.709458 1298327;1653738;1688939;1792812;2171770;2180252;2184568;2185889;5016851;5037552;5117897 D16S2624;D16S485;D16S751;D8S2279;GDB:631813;PMC164657P2;RH15650;RH80031;RH80500;SHGC-64276;WI-21728 KIAA0931;PHLPPL PH domain and leucine rich repeat protein phosphatase-like;PH domain leucine-rich repeat-containing protein phosphatase 2;PH domain leucine-rich repeat-containing protein phosphatase-like;PHLPP-like protein-coding ENSG00000040199 HGNC:29149 11118 611066 VALIDATED 731281 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011] 18 18 18 q21.33 57100716 57365706 + 60382672 60647676 + 62715439 62980443 + 2301729;5131497;5131532;6480464;8693633 18336616;18511290;20819118 10570941;12168954;12477932;14702039;15489334;15808505;15951569;16177791;17386267;18162466;19079341;19261608;19322201;19615732;19690890;19745829;19797085;20089132;20379614;20513427;20574456;20605778;20677014;20861921;21177869;21454620;21461637;21701506;21804599;21840483;21890473;21986499;22044669;22144674;22183406;22237780;22340730;22391563;22426999;22931649;22939629;23440515;23512990;23846336;24037758;24061475;24145035;24393845;24599953;24892992;9628581 23239 K7EP91;O60346 AB011178;ABBA01056200;ABBA01056201;ABBA01056202;ABBA01056203;ABBA01056204;ABBA01056205;AC015989;AC022046;AC027553;AF130097;AK001924;AK124714;AL079409;AMYH02034872;AMYH02034873;AMYH02034874;AMYH02034875;AMYH02034876;AMYH02034877;AMYH02034878;BC010706;BC014927;BC047653;BC063519;BC082244;BC126277;BG110729;CH471096;NG_031923;NM_194449 AAG35522;AAH10706;AAH14927;AAH47653;AAH63519;AAH82244;AAI26278;BAA25532;BAA91980;EAW63135;NP_919431;O60346 Hs.465337 1338523;1643706;1716643;1716807;1719373;1797166;2110659;5015404;5015881;5020414;5022578;5096625 D1S1423;D20S200;GDB:335751;L17688;L17705;PLEKHE1;PLEKHE1__5718;RH121578;RH121698;RH123414;RH16037;SHGC-34992 MGC161555;PHLPP;PLEKHE1;SCOP;hSCOP OTTHUMP00000198060;PH domain leucine-rich repeat-containing protein phosphatase 1;PH domain-containing family E member 1;SCN circadian oscillatory protein;pleckstrin homology domain containing, family E (with leucine rich repeats) member 1;pleckstrin homology domain-containing family E member 1;suprachiasmatic nucleus circadian oscillatory protein APPROVED protein-coding ENSG00000081913 HGNC:20610 15145 609396 REVIEWED 1314655 PHOSPHO1 phosphatase, orphan 1 ENCODES a protein that exhibits phosphocholine phosphatase activity; phosphoethanolamine phosphatase activity; pyrophosphatase activity; INVOLVED IN dephosphorylation; PARTICIPATES IN glycerophospholipid metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH benzo[a]pyrene; diazinon; ebselen 17 17 17 q21.32 43755211 43762602 - 47300728 47309009 - 49223366 49231647 - 1580863;6480464;6907045;8554872 12464021;12477932;14983068;15050893;15175005;15489334;16054448;18471996;19453261;19874193;23535732 162466 D6RB58;D6RHH9;D6RIT6;I3L4N1;Q8TCT1 ABBA01041193;AC004797;AJ457189;AMYH02033562;AX399835;AX817287;AX817289;BC029931;BC117187;BC143884;CH471109;NM_001143804;NM_178500;XM_005257109;XM_006721731;XM_006721732 AAI17188;CAD29803;CAD33279;CAE84349;CAE84350;EAW94686;NP_001137276;NP_848595;Q8TCT1;XP_005257166;XP_006721794;XP_006721795 Hs.405607 OTTHUMP00000220006;OTTHUMP00000220007;OTTHUMP00000220008;OTTHUMP00000220009;OTTHUMP00000220012;phosphoethanolamine/phosphocholine phosphatase protein-coding ENSG00000173868 HGNC:16815 17847 VALIDATED 1350676 PHLDB2 pleckstrin homology-like domain, family B, member 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; intermediate filament cytoskeleton; plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid; benzo[a]pyrene diol epoxide I 3 3 3 q13.2 109851286 110094444 + 111451327 111695364 + 111732480 111976517 + 737633;6480464;8554872 12477932 11001876;12376540;14702039;15161933;15302935;15324660;15489334;16344560;16824950;16964243;18029348;19531213;20125193;20236936;20379614;20513769;21139048;21150319;21988832;22111664;23000965;23443559;23525008;24255178;8889548 90102 E9PDY7;E9PFQ4;E9PGF6;G5E9V3;Q86SQ0 AB209903;ABBA01061669;AC055748;AC060225;AC117509;AF506820;AJ496194;AK025444;AK027862;AK092996;AK096151;AK125555;AK296841;AK307491;AK315050;AL137663;AL832205;AL832476;AL833135;AMYH02007432;AMYH02007433;AMYH02007434;AMYH02007435;AMYH02007436;AW264132;BC022383;BC031000;BC038806;BC069194;BC142678;BC150210;BX647615;CA310697;CH471052;CR749654;DA272187;DA438817;DA447763;NM_001134437;NM_001134438;NM_001134439;NM_145753 AAH31000;AAH38806;AAH69194;AAI42679;AAI50211;AAM33634;BAC04014;BAC04713;BAC86200;BAD93140;BAG59408;CAD42711;CAH10396;CAH10400;CAH18447;CAH56216;CAH56386;EAW79690;EAW79691;EAW79692;NP_001127909;NP_001127910;NP_001127911;NP_665696;Q86SQ0 Hs.603252;Hs.679140 1658447;1658508;1671377;1673806;1764631;1778889;1848968;1853800;2116255;2158829;5016851;5019763;5093480 A009Q05;G32743;G32762;RH12849;RH17931;RH45577;RH80031;SHGC-12085;SHGC-148219;SHGC-32892;SHGC-58070;SHGC-77194;SHGC-77196 DKFZp313O2433;DKFZp434G227;DKFZp686J05113;FLJ21791;LL5b;LL5beta LL5 beta;OTTHUMP00000214661;OTTHUMP00000214662;OTTHUMP00000214663;OTTHUMP00000214664;OTTHUMP00000214667;OTTHUMP00000214668;pleckstrin homology-like domain family B member 2;protein LL5-beta protein-coding ENSG00000144824 HGNC:29573 06611 610298 VALIDATED 1603445 PHOSPHO2 phosphatase, orphan 2 ENCODES a protein that exhibits metal ion binding (inferred); phosphatase activity (inferred); pyridoxal phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); PARTICIPATES IN vitamin B6 metabolic pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; copper(2+) sulfate; coumestrol 2 2 2 q31.1 164169782 164177027 + 170550946 170558218 + 169694454 169701708 + 6480464;6907045;8554872 12477932;15489334;15815621;16054448;16341674;16344560;17207965 493911 C9J4G2;C9JD35;C9JZQ7;Q8TCD6 ABBA01014892;AC016772;AK314915;AMYH02005189;BC022324;BC106013;BI550291;BM820383;CH471058;DA211528;DB443540;NM_001008489;NM_001199285;NM_001199286;NM_001199287;NM_001199288 AAH22324;AAI06014;AAY24234;ADQ32229;BAG37427;EAX11262;EAX11263;NP_001008489;NP_001186214;NP_001186215;NP_001186216;NP_001186217;Q8TCD6 Hs.745233 MGC111048;MGC22679 OTTHUMP00000204769;OTTHUMP00000204770;OTTHUMP00000204771;OTTHUMP00000204772;pyridoxal phosphate phosphatase PHOSPHO2 protein-coding ENSG00000144362 HGNC:28316 17848 VALIDATED 1350249 PHP panhypopituitarism 5263 HGNC:8936 733682 PHOX2A paired-like homeobox 2a The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 69251525 69256623 - 71950121 71955220 - 72239077 72244176 - 1599902;1580863;6480464;7240710;8554872;8699517 11600883 10644760;11549713;11889467;11943777;12100889;12477932;14506227;14566559;14597037;15240857;15489334;16049556;16127999;16156742;16280598;17344216;17505528;17584765;18323871;18949361;19212675;19573018;19852579;20301522;22170461;22311481;8661014;9119371;9341190;9683611 401 H0YGU5;O14813 ABBA01017539;AF022722;AF022723;AF022724;AJ320270;AK290645;AMYH02025075;AP000593;BC041564;BQ890461;CH471076;NG_008169;NM_005169 AAB82744;AAH41564;ABZ91991;BAF83334;CAC44904;EAW74856;NP_005160;O14813 Hs.731115 1668792;2108365;2135774;2180738 PHOX2A_8209;RH48230;RH67903;RH70700 ARIX;CFEOM2;FEOM2;MGC52227;NCAM2;PMX2A ARIX1 homeodomain protein;OTTHUMP00000237214;aristaless homeobox homolog;aristaless homeobox protein homolog;arix homeodomain protein;paired mesoderm homeobox protein 2A APPROVED protein-coding ENSG00000165462 HGNC:691 04129 602078;602753 REVIEWED 1345533 PHLDB3 pleckstrin homology-like domain, family B, member 3 ENCODES a protein that exhibits enzyme binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene diol epoxide I; ethyl methanesulfonate 19 19 19 q13.31 40779982 40809738 - 43979255 44009073 - 43475103 43504921 - 737633;6480464;8554872 12477932 11181995;14702039;15057824;15489334;22810585;23382074;24816145;8012384;8889548 653583 M0QXT7;M0R038;M0R353;M0R3I7;Q6NSJ2;Q96HZ0 AA621318;ABBA01040861;ABBA01040862;AC018758;AK097512;AMYH02036164;BC007947;BC029299;BC070094;BC157852;BC171853;BG403419;BU858992;CA502903;CB850627;CH471126;KF456588;NM_198850;XM_005259169;XM_005259170;XM_005259171;XR_243954;XR_430208;Z59022 AAH07947;AAH70094;AAI57853;AAI71853;BAC05082;EAW57191;EAW57192;EAW57193;NP_942147;Q6NSJ2;XP_005259226;XP_005259227;XP_005259228 Hs.631581 5022651 D11S2921 FLJ40193;MGC87511 OTTHUMP00000198269;pleckstrin homology-like domain family B member 3 protein-coding ENSG00000176531 HGNC:30499 VALIDATED 1354110 PHLDB1 pleckstrin homology-like domain, family B, member 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; cobalt dichloride 11 11 11 q23.3 115637985 115689504 + 118477213 118528748 + 118606498 118658038 + 6480464;8554872 11001876;12168954;12477932;14532993;14702039;15489334;15491607;17081983;19531213;19578367;20462933;20513769;20847058;21139048;21350045;21531791;22951725;23300798;23400010;24001599;24097068;25036637;9734811 23187 Q6ZUD6;Q86UU1;Q8NC75 AB014538;AB094090;AB177859;ABBA01039701;ABBA01039702;AI917888;AK021690;AK027510;AK074070;AK074747;AK074918;AK125783;AK295819;AK296345;AL080230;AL832373;AMYH02025645;AMYH02025646;AMYH02025647;AP000941;AP002954;BC013031;BC014510;BC098586;BX489377;BX648176;CH471065;CR749783;EF445008;KF455534;NM_001144758;NM_001144759;NM_015157;XM_005271468;XM_005271469;XM_005271470;XM_005271471;XM_005271472;XM_005271473;XM_005271474;XM_005271475;XM_005271477;XM_005277680;XM_006718796;XM_006718797;XM_006718798;XM_006718799;XM_006718800;XM_006718801;XM_006718802;XM_006718803;XM_006718804;XR_428972 AAH13031;AAH14510;AAH98586;ACA06041;BAA31613;BAB55164;BAB84896;BAC11292;BAC76044;BAC86289;BAD66837;BAG51996;BAG58636;BAG59029;CAH18649;EAW67400;EAW67401;EAW67402;EAW67403;EAW67404;EAW67405;EAW67406;EAW67407;NP_001138230;NP_001138231;NP_055972;Q86UU1;XP_005271525;XP_005271526;XP_005271527;XP_005271528;XP_005271529;XP_005271530;XP_005271531;XP_005271532;XP_005271534;XP_005277737;XP_006718859;XP_006718860;XP_006718861;XP_006718862;XP_006718863;XP_006718864;XP_006718865;XP_006718866;XP_006718867 Hs.504062 1337737;1725775;1731933;2107499;2130606;2134135;2164642;5015861;5022578;5022651;5109281;7185938 D10S16;D11S1364;D11S2065;D11S2274E;D11S2921;D11S614;D1S1423;D1S1425;G62130;PHLDB1__6986;RH11874 DKFZp686H039;DKFZp686O24210;FLJ00141;FLJ90266;KIAA0638;LL5A;MGC111531 LL5alpha;OTTHUMP00000232681;OTTHUMP00000232682;OTTHUMP00000232683;OTTHUMP00000233082;pleckstrin homology-like domain family B member 1;protein LL5-alpha protein-coding ENSG00000019144 HGNC:23697 15128 612834 VALIDATED 1353546 PHTF1 putative homeodomain transcription factor 1 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cis-Golgi network (inferred); endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; cobalt dichloride; coumestrol 1 1 1 p13 112469051 112531003 - 114239824 114302165 - 113697202 113759538 - 1580863;6480464 10395808;10729229;12477932;15489334;16344560;16710414;1729229;17554260;17554300;18305142;18794853;18978792;20089178;20211142;20379614;22493691;23128233;23251661;23568457 10745 B4DGS8;F6T5D1;H0Y825;Q5TCQ3;Q5TCQ5;Q9UMS5 ABBA01068457;ABBA01068458;AJ011863;AK126773;AK294749;AL133517;AL365321;AMYH02001773;AMYH02001774;AMYH02001775;BC000842;BC002447;CH471122;CX763183;DA728266;DB457884;NM_006608;XM_005270383;XM_005270384;XM_005270385;XM_005270387;XM_006710296;XM_006710297 AAH00842;AAH02447;BAG57889;CAB51572;EAW56566;EAW56567;EAW56568;EAW56569;NP_006599;Q9UMS5;XP_005270440;XP_005270441;XP_005270442;XP_005270444;XP_006710359;XP_006710360 Hs.655824 1692236;1698482;2123677;2125297;2131671 AL033778;D1S3609;RH102791;SHGC-75355;SHGC-75358 PHTF OTTHUMP00000013561;OTTHUMP00000013562;OTTHUMP00000013565;OTTHUMP00000013566 protein-coding ENSG00000116793 HGNC:8939 09227 604950 VALIDATED 1347823 PHOX2B paired-like homeobox 2b The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. [provided by RefSeq, Jul 2008] 4 4 4 p12 42190119 42195007 - 41746099 41750987 - 41744082 41748970 - 1599147;1599148;1580863;6480464;7240710;8554872;8699517 12640453;14566559 10360575;10395798;11034547;12438263;12477932;12631670;12919134;15024693;15185974;15193420;15240857;15338462;15489334;15516980;15653965;15657873;15901893;16021468;16049556;16127999;16144830;16249188;16280598;16402914;16691592;16763219;16830328;16873766;16888290;17300129;17440194;17505528;17541758;17637745;17765533;18041756;18079495;18157832;18198276;18275850;18292934;18323871;18407552;18438890;18580884;18798833;18949361;19011468;19058226;19128492;19191321;19201717;19262523;19573018;19707990;19735829;19881470;19888871;19940179;20004937;20101209;20301600;20301612;20538960;20601214;20846217;20957039;21051998;21076974;21088916;21206965;21286029;21373876;21624811;21830319;22052119;22170461;22307522;22323723;22437207;22552777;22648184;22821709;22856363;23037578;23103552;23231723;23342068;23427517;23460419;23715162;24605541;24919263;9039501;9374403 8929 Q99453 AB015671;ABBA01014273;AC105389;AF117979;AF414189;AI266171;AMYH02009100;BC017199;CH471069;D82344;NG_008243;NM_003924 AAD26698;AAH17199;BAA11555;BAA82670;EAW92989;NP_003915;Q99453 Hs.87202 2166417;2191353 MARC_17835-17836:1025010330:1;SHGC-67926 NBLST2;NBPhox;PMX2B OTTHUMP00000125223;PHOX2B homeodomain protein;neuroblastoma Phox;neuroblastoma paired-type homeobox protein;paired mesoderm homeobox 2b;paired mesoderm homeobox protein 2B APPROVED protein-coding ENSG00000109132 HGNC:9143 09157 209880;603851;613013 REVIEWED 1322769 PHPT1 phosphohistidine phosphatase 1 This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negatively regulating CD4 T lymphocytes by dephosphorylation and inhibition of KCa3.1 channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 9 9 9 q34.3 110257046 110259279 + 139743256 139745490 + 136848816 136851043 + 1580863;6480464;6907045 10931946;11042152;11076863;11230166;11342225;12383260;12477932;15146197;15342556;15489334;15489336;16130169;16169070;16189514;16219293;16344560;16381901;16713569;18656514;18796614;18991813;19056867;19138678;19344975;20501872;21044950;21139048;21163124;21890473;21963094;21967643;22939629;24816145;8619474;8681137;8889548;9110174 29085 Q9NRX4;Q9P019;V9HWC4 AA460844;ABBA01022726;AF131857;AF161490;AF164795;AF285119;AF393504;AL136644;AL355987;AMYH02021913;AMYH02021914;BC024648;BE962935;BG023922;BG681446;BM979912;BP375594;BQ922335;CD242442;CD693554;CH471090;CN334799;CN334800;CR533481;DA470768;EU794646;F29783;NM_001135861;NM_001287342;NM_001287343;NM_014172;NR_109807;NR_109808 AAF29105;AAF80759;AAG01156;AAH24648;AAN52504;ACJ13700;CAB66579;CAG38512;CAL38548;EAW88289;EAW88290;EAW88291;EAW88292;NP_001129333;NP_001274271;NP_001274272;NP_054891;Q9NRX4 Hs.409834;Hs.731711 2132405 STS-N90764 CGI-202;DKFZp564M173;HEL-S-132P;HSPC141;PHP14;RP11-216L13.10;bA216L13.10 14 kDa phosphohistidine phosphatase;1700008C22Rik;OTTHUMP00000022619;OTTHUMP00000022620;epididymis secretory sperm binding protein Li 132P;phosphohistidine phosphatase 14kDa;protein janus-A homolog;sex-regulated protein janus-a APPROVED protein-coding HGNC:30033 17849 610167 VALIDATED 1605972 PHRF1 PHD and ring finger domains 1 ENCODES a protein that exhibits RNA polymerase binding (ortholog); INVOLVED IN mRNA processing (inferred); transcription from RNA polymerase II promoter (inferred); FOUND IN membrane; INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 11 11 11 p15.5 639140 677368 + 576226 612222 + 576226 612222 + 6480464 10819331;10997877;12477932;15302935;15489334;16344560;17081983;18204446;19389623;19946888;20112359;20848568;20881011;20962850;21068098;21139048;21145461;21408207;21890473;21988832;22433914;22586326;23000965;23740937;23911286 57661 B7ZM65;B7ZM66;E9PJ24;F8WEF5;Q9P1Y6 AB040975;ABBA01015194;ABBA01015195;ABBA01015196;ABBA01015197;AC138374;AMYH02024146;AP006284;BC004950;BC013381;BC029651;BC041631;BC112931;BC127876;BC136615;BC144293;BC144294;BC144295;BC146771;CH471158;DA656880;DA989169;NM_001286581;NM_001286582;NM_001286583;NM_020901;XM_005253025;XM_005253027;XM_006725140;XM_006725141 AAH04950;AAH13381;AAH29651;AAH41631;AAI27877;AAI36616;AAI44294;AAI44295;AAI44296;AAI46772;BAA96066;EAX02353;EAX02354;NP_001273510;NP_001273511;NP_001273512;NP_065952;Q9P1Y6;XP_005253082;XP_005253084;XP_006725203;XP_006725204 Hs.325838 1680403;1693542;2119411;2133520;5015619;5022651;5037552;7186171 D11S2921;D11S3114;D8S2279;RH75434;SHGC-31256;SHGC-58456;STS-M91083 KIAA1542;PPP1R125;RNF221 CTD binding SR like protein rA9;CTD-binding SR-like protein rA9;OTTHUMP00000228596;OTTHUMP00000228597;OTTHUMP00000228598;OTTHUMP00000237921;OTTHUMP00000237922;PHD and RING finger domain-containing protein 1 protein-coding ENSG00000070047 HGNC:24351 13870 611780 VALIDATED 731796 PHYH phytanoyl-CoA 2-hydroxylase This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 10 10 10 p13 13246935 13269237 - 13319796 13342133 - 13277796 13300138 - 1358251;1580863;6480464;7240710;8699517;8554872 12923223 10051602;10588950;10686344;10709665;10744784;10767344;10866807;11549466;11555634;11574539;12477932;12767919;14974078;15489334;15930519;16169070;16186124;16189514;16385451;16756494;17353931;18612766;19322201;19834535;20301317;20301527;20877624;21832049;21890473;2433405;24816145;8954107;9221344;9266377;9326939;9326940;9565335 5264 B1ALH6;C9IYS5;C9JR86;O14832 ABBA01034630;AF023462;AF112977;AF242379;AL138764;AMYH02022172;AMYH02022173;BC021011;BC029512;BF185692;BF509272;BM351828;CH471072;CR542055;NG_012862;NM_001037537;NM_006214;XM_005252469 AAB81834;AAD20602;AAF74123;AAH29512;ABM81933;ABM85111;CAG46852;EAW86294;EAW86295;NP_001032626;NP_006205;O14832;XP_005252526 Hs.498732 1670703;2145818 RH15740;WI-16723 LN1;LNAP1;PAHX;PHYH1;RD OTTHUMP00000019131;OTTHUMP00000019132;OTTHUMP00000179083;OTTHUMP00000216226;phytanic acid oxidase;phytanoil-CoA alpha hydroxylase;phytanoyl-CoA 2 oxoglutarate dioxygenase;phytanoyl-CoA alpha-hydroxylase;phytanoyl-CoA dioxygenase, peroxisomal;phytanoyl-coa hydroxylase (refsum disease) APPROVED protein-coding ENSG00000107537 HGNC:8940 03609 266500;602026 REVIEWED 1317467 PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein-like FOUND IN cytoplasm; INTERACTS WITH 2-methylcholine; cytarabine; fonofos 10 10 10 q11 54202113 54273651 + 60936348 61007815 + 59176588 59248055 + 737633;6480464 12477932 11076863;11230166;11256614;11347906;12975309;14702039;15489336;16189514;16381901;16385451;20379614;20877624;8889548 84457 Q96FC7 AB058699;ABBA01019445;ABBA01019446;AC016398;AC025038;AK054956;AL365474;AL834339;AMYH02023160;AMYH02023161;AMYH02023162;AW299583;AY358162;BC011268;BM676577;CH471083;CR749429;DB455338;DB551000;NM_001143774;NM_032439;XM_005270227;XM_005270228 AAH11268;AAQ88529;BAB47425;BAB70832;CAB97028;CAD39006;CAH18267;CAL37621;CAL38059;EAW54184;EAW54185;EAW54186;NP_001137246;NP_115815;Q96FC7;XP_005270284;XP_005270285 Hs.499704 1700862;1789052;2157489;2165147;2178731;5014051;5015671;5022200 D10S1549E;D10S1860;D8S2278;G65661;L18426;RH104057;SHGC-30631;WI-14793 KIAA1796 OTTHUMP00000019638;OTTHUMP00000019639;phytanoyl-CoA hydroxylase interacting protein-like;phytanoyl-CoA hydroxylase-interacting protein-like protein-coding ENSG00000165443 HGNC:29378 15131 VALIDATED 1321591 PHTF2 putative homeodomain transcription factor 2 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH (+)-catechin; (-)-demecolcine; acetaldehyde 7 7 7 q11.23-q21 72128704 72287454 + 77428109 77586821 + 77798792 77957504 + 6480464 10729229;11076863;11230166;11256614;12477932;14702039;15342556;15489336;16381901;19322201;20383146;21906983;23064961;23251661;8125298 57157 B3KQZ2;Q8N3S3 ABBA01058019;ABBA01058020;AC004955;AC004990;AC073520;AK090643;AK225854;AK308289;AL050389;AL136883;AL831969;AMYH02016107;AMYH02016108;AMYH02016109;AMYH02016110;AMYH02016111;AMYH02016112;BC018098;BC022419;BC032334;BC067742;BC127093;BC127094;BE880432;BP321440;BP395569;CB051673;CH236949;CH471091;NM_001127357;NM_001127358;NM_001127359;NM_001127360;NM_020432;XM_005250508;XM_005250509;XM_006716063 AAH18098;AAH22419;AAH32334;AAH67742;AAI27094;AAI27095;BAG52204;CAB43684;CAB66817;CAD38610;CAL37861;CAL38078;EAL24195;EAW77027;EAW77028;EAW77029;EAW77030;EAW77031;NP_001120829;NP_001120830;NP_001120831;NP_001120832;NP_065165;Q8N3S3;XP_005250565;XP_005250566;XP_006716126 Hs.203965;Hs.601884 1339962;1648097;1786398;2121990;2133561;2147706;2165218;2177099;2178903 D7S1478;D7S675;G19211;GDB:1317992;GDB:1317994;RH78990;SGC33240;SHGC-171971;SHGC-64853 DKFZp564F013;FLJ33324;MGC86999 OTTHUMP00000208227;OTTHUMP00000208228;OTTHUMP00000208229;OTTHUMP00000208230;OTTHUMP00000208231;OTTHUMP00000208232;OTTHUMP00000209950 protein-coding ENSG00000006576 HGNC:13411 15130 VALIDATED 1319988 PI15 peptidase inhibitor 15 This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system. [provided by RefSeq, Jul 2008] 8 8 8 q21.11 71730974 71761463 + 75736772 75767264 + 74824537 74855029 + 1580863;6480464 10362728;12477932;18029348;18464913;8882727;9473672 51050 O43692 ABBA01041988;AC011632;AC026616;AK130318;AK130386;AMYH02018238;BC074931;BC074932;BC126290;BC126292;CH471068;CR749657;D45027;NM_015886;XM_005251255;XM_006716453 AAH74931;AAH74932;AAI26291;AAI26293;ADR83354;BAA25066;CAH18451;EAW87037;NP_056970;O43692;XP_005251312;XP_006716516 Hs.98558 1689318 RH92346 CRISP-8;CRISP8;DKFZp686F0366;P24TI;P25TI;PI-15 25 kDa trypsin inhibitor;OTTHUMP00000226900;OTTHUMP00000226901;cysteine-rich secretory protein 8;protease inhibitor 15;sugarCrisp APPROVED protein-coding ENSG00000137558 HGNC:8946 06150 607076 REVIEWED 1321250 PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 ENCODES a protein that exhibits dioxygenase activity (inferred); metal ion binding (inferred); INVOLVED IN oxidation-reduction process (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; arsenite(3-) 9 9 9 q34.11 102335033 102356179 + 131683174 131704322 + 128920895 128942041 + 737633;1580863;6480464 12477932 14702039;17207965;17567994;21044950;21530488;21832049;8889548 254295 F8WCG7;G5E9M0;H7C2Q0;H7C3M4;I7HJS6;Q5SRE7;X6RCI6;X6RFQ9;X6RJK6 ABBA01043908;AK054994;AK095000;AL672142;AMYH02021728;BC009373;BC051300;BC053853;BM689360;CH471090;NM_001100876;NM_001100877;NM_174933 AAH09373;AAH51300;AAH53853;ADQ32553;BAG51448;BAG52969;EAW87844;EAW87845;EAW87846;EAW87847;EAW87848;NP_001094346;NP_001094347;NP_777593;Q5SRE7 Hs.709447 1820572;1822270;1824290;1825006;1825234;1829028;1830966;1838026;1838276;1844482;1845876;1931872;1931874;1931876;1931878;1931880;1931882;1931884;1931886;1931888;1931890;1931892;1931894;1931896;1931898;1931900;1931902;1931904;1931906;1931908;1931910;1931912;1931914;1931916;1931918;1931920;1931922;1931924;1931926;1931928;1931930;1931932;1931934;1931936;1931938;1931940;1931942;1931944;1931946;1931948;1931950;1931952;1931954;1931956;1931958;1931960;1931962;1931964;1931966;1931968;2135054;2208054;2208056;2208058;2208060;2208062;2208064;2208066;2208068;2208070;2208072;5014051;5015619;5022578;5037552 D11S3114;D1S1423;D8S2278;D8S2279;ECD11361;ECD12221;ECD13243;ECD13602;ECD13718;ECD15641;ECD16619;ECD20184;ECD20312;ECD23455;ECD24157;REN36765;REN36766;REN36767;REN36768;REN36769;REN36770;REN36771;REN36772;REN36773;REN36774;REN36775;REN36776;REN36777;REN36778;REN36779;REN36780;REN36781;REN36782;REN36783;REN36784;REN36785;REN36786;REN36787;REN36788;REN36789;REN36790;REN36791;REN36792;REN36793;REN36794;REN36795;REN36796;REN36797;REN36798;REN36799;REN36800;REN36801;REN36802;REN36803;REN36804;REN36805;REN36806;REN36807;REN36808;REN36809;REN36810;REN36811;REN36812;REN36813;RH47282;stSG628072;stSG628074;stSG628075;stSG628076;stSG628077;stSG628078;stSG628080;stSG628081;stSG628082;stSG628083 MGC16638 OTTHUMP00000022302;OTTHUMP00000022303;OTTHUMP00000022304;OTTHUMP00000022305;OTTHUMP00000199642;OTTHUMP00000204998;phytanoyl-CoA dioxygenase domain-containing protein 1 protein-coding ENSG00000175287 HGNC:23396 17850 VALIDATED 1602671 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 5 5 5 q35.3 173262527 173286791 - 177635475 177659823 - 178208474 178232822 - 6480464 12477932;14702039;16189514;16344560;17207965;20877624;21044950;22241472;23242558;24654937 85007 D6RAR0;D6RCB8;D6RD89;H0Y9N3;H0YAK5;H7BXR0;H7BYK2;Q8IUZ5 AA862441;ABBA01009991;AC136601;AC136632;AF318375;AK023470;AK024076;AK090397;AK093737;AK292061;AMYH02012861;AMYH02012862;BC008009;BC028002;BC037238;BC037567;BC039012;BC067745;BC088800;BC110335;BX417194;CH471165;DB022121;HY267487;NG_033253;NM_001278346;NM_153373;NR_103508;NR_103509;NR_103510;XM_005266002;XM_006714924;XM_006714925;XM_006714926;XR_245278;XR_427812;XR_427813 AAH08009;AAH37567;AAI10336;AAL55882;ADQ31790;ADZ15837;BAC03378;BAF84750;BAG51198;EAW53835;EAW53836;EAW53837;EAW53838;EAW53839;EAW53840;EAW53841;NP_001265275;NP_699204;Q8IUZ5;XP_005266059;XP_006714987;XP_006714988;XP_006714989 Hs.248746 1647342;1674081;1677420;1688819;1725801;1740357;1740373;1740393;1740419;1740473;1778561;1851352;2151169;2217438 D5S2189E;D5S2197E;D5S2215E;D5S2231E;D5S2268E;D5S2662;G62077;HNRPAB_3078;RH16525;RH67928;RH98765;STS-AA022921;STS-M65028;WI-18902 AGXT2L2;MGC117348;MGC15875;MGC45484;PHLU 5-phosphonooxy-L-lysine phospho-lyase;OTTHUMP00000161492;alanine--glyoxylate aminotransferase 2-like 2;alanine-glyoxylate aminotransferase 2-like 2 APPROVED protein-coding ENSG00000175309 HGNC:28249 18482 614683 REVIEWED 1344308 PI3 peptidase inhibitor 3, skin-derived This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2008] 20 20 20 q13.12 40512137 40513782 + 43803540 43805185 + 45174899 45176544 + 1580863;6480464;8699517;8554872 11371023;11466403;11667971;11755920;11780052;11868825;11956616;12029489;12164924;12206714;12397374;12477932;12542536;12819058;12970320;1339270;14693682;15034071;1536690;15489334;15668324;16279952;16300411;16424380;16719916;16913840;16980310;17139263;17200145;17489739;17964057;18025118;18092325;18203972;18700007;18799464;19087518;19095674;19197381;19251943;19420899;1969201;19723838;19823954;19824918;19906197;2001428;20126474;20346360;20371463;2039600;20932308;21392745;21466784;21666788;22634606;23300756;23383108;23398087;23637403;23866880;23885101;2394696;24617927;24710505;7685029;7780965;8287685;8476637;8794736;8823304;8999895;9171290;9727750 5266 P19957;Q6LD69 AA583773;ABBA01052657;AL049767;AMYH02037147;BC010952;CH471077;CR542234;D13156;L10343;NM_002638;S58717;S78387;Z18538;Z48352 AAA36483;AAB26371;AAB34627;AAH10952;ABM83636;ABM86888;BAA02441;CAA79223;CAG47030;EAW75873;EAW75874;NP_002629;P19957 Hs.112341 2119907 RH66083 ESI;MGC13613;PI-3;SKALP;WAP3;WFDC14 OTTHUMP00000031100;WAP four-disulfide core domain 14;WAP four-disulfide core domain protein 14;cementoin;elafin;elastase-specific inhibitor;peptidase inhibitor 3, skin-derived (SKALP);pre-elafin;protease inhibitor 3, skin-derived (SKALP);protease inhibitor WAP3;skin-derived antileukoproteinase;trappin-2 APPROVED protein-coding ENSG00000124102 HGNC:8947 15947 182257 REVIEWED 1626566 PI4KAP1 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 INVOLVED IN phosphatidylinositol phosphorylation (inferred); phosphatidylinositol-mediated signaling (inferred) 22 22 22 q11.21 4556651 4580205 - 20383731 20398695 - 18533864 18548828 - 12477932;14702039;21906983 728233 Q8N8J0 ABBA01001224;AC023490;AK002141;AK024034;AK096724;AK292695;AMYH02038059;BC072398;BC131538;NR_003563 BAC04851;BAF85384;Q8N8J0 Hs.592456 2151485;5022200;5022578;5022651;5037552;5113361;5118802 D11S2921;D11S3665;D1S1423;D8S2279;L18426;RH27899;RH78571 FLJ39405 pseudo ENSG00000274602 HGNC:33576 PROVISIONAL 1604941 PI4KAP2 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 ENCODES a protein that exhibits kinase activity (inferred); phosphotransferase activity, alcohol group as acceptor (inferred); INVOLVED IN phosphatidylinositol phosphorylation (inferred); phosphatidylinositol-mediated signaling (inferred) 22 22 q11.21 21827287 21871780 - 21472998 21517491 - 6480464 12107411;12477932;14702039;15461802;15489334;16189514;16344560;21906983;7566098;8889548 375133 A4QPH2 AA300351;AA425488;ABBA01005995;ABBA01005996;AK126860;AK297163;AK298744;AK299734;AK303215;AMYH02038099;AP000557;BC020225;BC139841;BQ638971;BX407261;BX452846;CA313607;CR456378;CX751888;DA463001;NR_003700;XR_249020 A4QPH2;AAI39842;AAI41653;BAC86726;BAG59660;BAG60888;BAG61631;BAG64303;CAG30264 Hs.448225;Hs.592456;Hs.743559 2151485;5037552;5113361;5118802 D11S3665;D8S2279;RH27899;RH78571 FLJ44912;MGC31920 pseudo ENSG00000183506 HGNC:33577 14194 VALIDATED 1602326 PI4K2B phosphatidylinositol 4-kinase type 2 beta Phosphatidylinositol 4-kinases (PI4Ks) phosphorylate phosphatidylinositol to generate phosphatidylinositol 4-phosphate (PIP), an immediate precursor of several important signaling and scaffolding molecules. PIP itself may also have direct functional and structural roles. PI4K2B is a primarily cytosolic PI4K that is recruited to membranes, where it stimulates phosphatidylinositol 4,5-bisphosphate synthesis (Wei et al., 2002 [PubMed 12324459]).[supplied by OMIM, Jun 2008] 4 4 4 p15.2 25684355 25729523 + 25235653 25280831 + 25234031 25279209 + 6480464;6907045;8554872 11907035;11923287;12324459;12477932;14702039;16337488;16949365;18029348;18316730;18624398;19322201;19539307;19946888;20583997;21139048;21330372;21890473;21906983;21963094;22505724;23000965;23619705;24250222 55300 G5E9Z4;Q8TCG2 ABBA01032693;ABBA01032694;ABBA01032695;AC104662;AC108218;AF411320;AK001967;AK023186;AK128622;AK296302;AMYH02008910;AMYH02008911;AY065990;AY091514;BC031014;BC051749;CH471069;HB386249;NM_018323;XM_005248174;XM_005248175 AAH51749;AAL04154;AAL47580;AAM12049;BAA92006;BAG54701;BAG59002;CAZ64455;EAW92836;NP_060793;Q8TCG2;XP_005248231;XP_005248232 Hs.191701 1697266 RH102128 FLJ11105;PI4KIIB;PIK42B OTTHUMP00000158714;OTTHUMP00000218478;PI4KII-BETA;phosphatidylinositol 4-kinase type 2-beta;phosphatidylinositol 4-kinase type II-beta;phosphatidylinositol 4-kinase type-II beta APPROVED protein-coding ENSG00000038210 HGNC:18215 15132 612101 VALIDATED 1605063 PI4K2A phosphatidylinositol 4-kinase type 2 alpha Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008] 10 10 10 q24 93137746 93173496 + 99400443 99436187 + 97640686 97676430 + 6480464;6484113;6907045;8554872 11113129;11244087;11279162;12324459;12477932;12594831;12650639;12914695;14702039;15302935;15711748;16249177;16385451;16443754;17897319;18256276;19010779;19561074;19946888;20154717;20562859;21139048;21163940;21190509;21218173;21330372;21890473;21906983;21963094;21987572;22505724;23000965;23676666;24250222;24675427;24816145;8619474;9006891;9110174 55361 E9PAM4;Q9BTU6 ABBA01021792;ABBA01021793;ABBA01021794;ABBA01021795;AF070611;AJ303098;AK023236;AK024317;AK309343;AL353952;AL355315;AMYH02023612;BC003167;BT007330;CH471066;NM_018425 AAH03167;AAP35994;ABM84463;ABM84684;CAB89254;CAC38065;EAW49906;EAW49907;NP_060895;Q9BTU6 Hs.25300 1661031;1681562;1736118;1755033;2107501;2135680;2165703 D10S1386E;PI4KII__6989;RH11292;RH66059;RH68006;RH91726;SHGC-141980 DKFZp761G1923;PI4KII;PIK42A;RP11-548K23.6 OTTHUMP00000020224;OTTHUMP00000221793;phosphatidylinositol 4-kinase type 2-alpha;phosphatidylinositol 4-kinase type II (PI4KII);phosphatidylinositol 4-kinase type II-alpha APPROVED protein-coding ENSG00000155252 HGNC:30031 11431 609763 PROVISIONAL 1314035 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein INTERACTS WITH (+)-catechin; all-trans-retinoic acid; copper(2+) sulfate 8 8 8 p21.3 21039919 21052558 - 22077216 22089851 - 22219703 22232338 - 6480464 10686344;11245925;12477932;15489334;15694837;16169070;23505323;8889548;9039502 9796 E5RHN5;Q92561 ABBA01005509;AC105206;AK098743;AK294372;AMYH02017589;BC034034;BC035940;BM674072;CH471080;D87463;NM_001099335;NM_014759;XM_006716416;XR_247134 AAH34034;AAH35940;BAA13402;BAG57632;EAW63693;EAW63694;NP_001092805;NP_055574;Q92561;XP_006716479 Hs.334688 1778035;2135596 A002C14;D8S1579 DYRK1AP3;KIAA0273;PAHX-AP;PAHXAP1 DYRK1A interacting protein 3;OTTHUMP00000224835;OTTHUMP00000224836;PAHX-AP1;phytanoyl-CoA alpha-hydroxylase associated protein;phytanoyl-CoA hydroxylase interacting protein;phytanoyl-CoA hydroxylase-associated protein 1;phytanoyl-CoA hydroxylase-interacting protein protein-coding ENSG00000168490 HGNC:16865 16345 608511 VALIDATED 1352637 PI8L2 protease inhibitor 8 (ovalbumin type)-like 2 10644448 11028 HGNC:8954 1312389 PI16 peptidase inhibitor 16 ENCODES a protein that exhibits peptidase inhibitor activity (inferred); INVOLVED IN negative regulation of cell growth involved in cardiac muscle cell development (inferred); negative regulation of peptidase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH paracetamol; silicon dioxide; 17beta-estradiol (ortholog) 6 6 6 p21.2 38477186 38487588 + 36916039 36932613 + 36948263 36964837 + 6480464;8554872 12477932;12975309;15344909;16303743;16344560;17062675;20237162;22533972 221476 B4E1P4;Q6UXB8 ABBA01038268;ABBA01038269;AK075470;AK124589;AK302193;AK303928;AK312785;AL050088;AL122034;AMYH02013560;AX136261;AY358422;BC022399;BC035634;CH471081;DA342875;DB178215;JA738575;NM_001199159;NM_153370;XM_005248915;XM_005248917 AAH22399;AAH35634;AAQ88788;BAC11640;BAC85892;BAG35648;BAG63555;BAG64856;CAC39772;CCF76940;EAX03923;EAX03924;NP_001186088;NP_699201;Q6UXB8;XP_005248972;XP_005248974 Hs.25391 1848171 RH12807 CRISP-9;CRISP9;DKFZp586B1817;MGC45378;MSMBBP;PI-16;PSPBP OTTHUMP00000016309;PSP94-binding protein;cysteine-rich secretory protein 9;microseminoprotein, beta-binding protein;protease inhibitor 16 protein-coding ENSG00000164530 HGNC:21245 VALIDATED 1606434 PIANP PILR alpha associated neural protein This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011] 12 12 12 p13.31 8419980 8426835 - 6802957 6810009 - 6693791 6700843 - 6480464;8554872 12477932;12975309;14702039;16344560;20578158;21241660;23558288;8889548 196500 F5GZA6;F5H0N9;F5H191;Q8IYJ0 AA653479;ABBA01017650;AC125494;AK056295;AK091596;AK091656;AK095854;AK289648;AL831874;AMYH02025953;AY358534;BC035736;BM703122;CH471116;DA090039;DB496995;KF455596;NG_029972;NM_001244014;NM_001244015;NM_153685;XM_006718970 AAH35736;AAQ88898;BAF82337;BAG51669;BAG52388;BAG52398;BAG53145;EAW88750;EAW88751;EAW88752;EAW88753;EAW88754;NP_001230943;NP_001230944;NP_710152;Q8IYJ0;XP_006719033 Hs.44067;Hs.740050 1658297 STS-N32102 C12orf53;DKFZp547D2210;PANP;leda-1 OTTHUMP00000239147;OTTHUMP00000239148;OTTHUMP00000239149;PILR alpha-associated neural protein;PILR-associating neural protein;hypothetical protein LOC196500;liver endothelial differentiation-associated protein-1;paired immunoglobin-like type 2 receptor-associating neural protein;uncharacterized protein C12orf53 APPROVED protein-coding ENSG00000139200 HGNC:25338 13205 REVIEWED 1603704 PIAS2 protein inhibitor of activated STAT, 2 This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2011] 18 18 18 q21.1 41199736 41278688 - 44388900 44500130 - 46808937 46920167 - 2290530;6480464;6907045;8554872 16426581 10961991;11117529;11283613;11439351;11477070;11867732;11877418;12177000;12193603;12239342;12356872;12393906;12477932;12526767;12716907;14514699;14609633;14667819;14739298;14752048;15208321;15231748;15301740;15489334;15572661;15580267;15767674;15780936;15907835;15920481;15976810;16029420;16142238;16144832;16148010;16154161;16189514;16204249;16269333;16460827;16524884;16713578;16730941;16777850;17006541;17036045;17066076;17283066;17471507;17533377;18157088;18274552;18451802;18579533;18624398;19164764;19217413;19394292;19815509;19901969;20308430;20624960;20936779;21123453;21139048;21156324;21252943;21693764;21779164;21906983;21988832;22162396;22184250;22406621;22505724;22578841;22731716;22990118;23704280;24344134;24654937;24722188;9256341;9724754;9920921 9063 B4DGW0;K7EJT4;K7EMP6;K7EQX5;K7ER97;O75928;Q2TA77 AA701927;ABBA01022317;AC090241;AC090373;AC245440;AF077953;AF077954;AF361054;AK294801;AK308143;AW016227;BC015190;BC111060;BG718291;BX646432;CH471088;NG_029865;NM_004671;NM_173206;XM_005258377;XM_005258379;XM_005258381;XM_005258382;XM_005258383;XM_006722571;XM_006722572;XM_006722573 AAC36704;AAC36705;AAH15190;AAI11061;AAK48938;ABM87420;ABW03883;BAG57921;EAX01484;EAX01485;EAX01486;EAX01487;EAX01488;NP_004662;NP_775298;O75928;XP_005258434;XP_005258436;XP_005258438;XP_005258439;XP_005258440;XP_006722634;XP_006722635;XP_006722636 Hs.657844 1661221;1677887;1679449;1686648 RH93954;RH98404;RH99146;STS-H25373 ARIP3;DIP;MGC102682;MIZ;MIZ1;SIZ2;ZMIZ4 DAB2-interacting protein;E3 SUMO-protein ligase PIAS2;Msx-interacting-zinc finger;PIAS-NY protein;PIASX;PIASX-ALPHA;PIASX-BETA;androgen receptor-interacting protein 3;msx-interacting zinc finger protein;protein inhibitor of activated STAT x;zinc finger, MIZ-type containing 4 APPROVED protein-coding ENSG00000078043 HGNC:17311 06944 603567 REVIEWED 1344818 PIAS3 protein inhibitor of activated STAT, 3 This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q21 119779357 119789916 + 145575257 145586546 + 145848522 145859081 - 1580863;1642482;2290530;6480464;6484113;6907045 16426581;17486098 10319586;11060035;11071847;11117529;11390395;11429412;11477070;11709556;12208521;12387893;12477932;12804609;12869526;14630083;14691252;14702039;14715251;15138572;15140884;15171715;15231748;15489334;15907835;16029420;16098628;16368885;16455055;16522640;16524884;16679534;17032498;17087506;17533377;17565989;17696781;17987106;18037959;18157088;18212042;18408014;18550668;18681895;19217413;19308990;19322201;19471022;19569236;19760037;19903771;20159969;20231901;20351170;20516148;20935639;20936779;21288202;21317457;21497567;21532337;21693764;21733403;21900206;21906983;21963094;21988832;22321011;22584572;22649547;23092970;23322197;23704280;23959540;24096733;24120699;24654937;9388184;9724754 10401 B3KNI3;E7ESB4;E9PHH8;Q6IAR4;Q9Y6X2;U3KQV1 AB021868;ABBA01005742;AC239808;AK027557;AK125158;AK294231;AK304039;AL122061;AL133016;AL160282;BC001154;BC030556;BE247489;BT007036;CH471244;CR457090;NM_006099 AAH01154;AAH30556;AAP35684;ABM84468;ABM84722;ABM85963;ABW03445;BAA78533;BAG51345;BAG57533;BAG64950;CAB59241;CAB61357;CAG33371;EAW71429;EAW71430;EAW71431;NP_006090;Q9Y6X2 Hs.435761 1658474;1660212;1680026;1699506;2175665 RH103347;RH68119;RH79814;SHGC-32015;WI-20383 FLJ14651;ZMIZ5 E3 SUMO-protein ligase PIAS3;OTTHUMP00000015586;OTTHUMP00000015587;protein inhibitor of activated STAT protein 3;zinc finger, MIZ-type containing 5 APPROVED protein-coding ENSG00000131788 HGNC:16861 09068 605987 REVIEWED 1318687 PIAS4 protein inhibitor of activated STAT, 4 ENCODES a protein that exhibits SUMO ligase activity; ubiquitin protein ligase binding; INVOLVED IN negative regulation of transcription, DNA-templated; positive regulation of protein sumoylation; protein sumoylation; PARTICIPATES IN type II interferon signaling pathway; ataxia telangiectasia-mutated (ATM) signaling pathway; hepatitis C virus infection pathway; FOUND IN cytoplasm; nucleus; INTERACTS WITH atrazine; cobalt dichloride; elemental selenium 19 19 19 p13.3 3947561 3977562 + 4007749 4038067 + 4007751 4038069 + 1580863;1357941;2290530;6480464;6484113;6907045;8661242 14607831;16426581;24002223 11248056;11388671;11439351;11731474;11781839;11877418;12477932;12511558;12631292;12727872;12740389;12750312;12815042;12904571;14559918;14981544;15155784;15158472;15173587;15208321;15231748;15251447;15383276;15489334;15831457;15907835;15976810;16189514;16219678;16524884;16679534;16793547;16816390;16862185;16906147;17183683;17353273;17456046;17585876;17696781;17717071;18029348;18285457;18384750;18408014;18477566;18579533;18583959;19322201;19394292;19471022;19625650;19779455;20016594;20016603;20054338;20159969;20196770;20211142;20300531;20351170;20471636;20661221;20696768;21139048;21252943;21362625;21454665;21624955;21693764;21906983;21963094;21987572;21988832;22173230;22505724;22508508;22564762;22578841;22584572;22661230;22751435;22829926;23358114;23624367;23704280;23770046;24002598;24250222;24457965;8125298;9724754 51588 Q53H55;Q8N2W9 ABBA01002865;ABBA01002866;ABBA01056100;AC016586;AF077952;AF164437;AK022481;AK222726;AK315530;AMYH02035272;BC004389;BC010047;BC029874;BC066895;CH471139;NM_015897 AAC36703;AAD45155;AAH04389;AAH10047;AAH29874;AAH66895;ABM83345;ABM86559;BAD96446;BAG51076;EAW69273;NP_056981;Q8N2W9 Hs.105779 1654932;1684228 A004M07;RH91112 FLJ12419;MGC35296;ZMIZ6 E3 SUMO-protein ligase PIAS4;PIAS-gamma;PIASY;Piasg;protein inhibitor of activated STAT protein 4;protein inhibitor of activated STAT protein PIASy;protein inhibitor of activated STAT protein gamma;zinc finger, MIZ-type containing 6 protein-coding HGNC:17002 06910 605989 PROVISIONAL 1317273 PIAS1 protein inhibitor of activated STAT, 1 This gene encodes a member of the mammalian PIAS [protein inhibitor of activated STAT-1 (signal transducer and activator of transcription-1)] family. This member contains a putative zinc-binding motif and a highly acidic region. It inhibits STAT1-mediated gene activation and the DNA binding activity, binds to Gu protein/RNA helicase II/DEAD box polypeptide 21, and interacts with androgen receptor (AR). It functions in testis as a nuclear receptor transcriptional coregulator and may have a role in AR initiation and maintenance of spermatogenesis. [provided by RefSeq, Jul 2008] 15 15 15 q 45234605 45365328 + 68346572 68483797 + 68054234 68191459 + 1580863;1357941;2290530;6480464;6484113;6907045;7421504;8693412;8693413;8661242 14607831;16426581;19350281;21545521;21784126;24002223 10380882;10628744;10805787;11117529;11257227;11439351;11451946;11583632;11672422;11716541;11788578;11867732;11877418;12171910;12177000;12223491;12356736;12393906;12477932;12855578;14500712;14500761;14609633;14611647;14701874;14702039;14752048;15028714;15123615;15133049;15192080;15208321;15231748;15280358;15337742;15489334;15561718;15572661;15572666;15572677;15580297;15588942;15611122;15657437;15666801;15666827;15782135;15901746;15907835;15957955;16029420;16127449;16135793;16144832;16148010;16154161;16421255;16522640;16524884;16563226;16600910;16679534;17066076;17081983;17087506;17159996;17283066;17369852;17371985;17509614;17533377;17540171;17606919;17696781;17934332;18157088;18190974;18274552;18408014;18566411;18579533;18624398;18660489;18806873;19074829;19217413;19218564;19288270;19394292;19471022;19604093;19692572;19766626;19843541;19906316;19965618;20016594;20016603;20159969;20203086;20209145;20351170;20711444;20805487;20936779;20966256;21139048;21252943;21338522;21467194;21527249;21676946;21693764;21717107;21906983;21925039;21963094;21988832;22162396;22283414;22321011;22406621;22449952;22505724;22539995;22555612;22578841;22661230;22797925;22969086;22972521;22976298;22990118;23032264;23080069;23202365;23275563;23377640;23443559;23472246;23667531;24036127;24052079;24174529;24369422;24515614;24654937;24872413;9177271;9724754 8554 H3BS65;H3BSI8;H3BUL7;O75925;Q1XBU8 ABBA01038785;ABBA01038786;AC107871;AC135628;AF077951;AF167160;AK094641;AK314515;AMYH02030678;AMYH02030679;AMYH02030680;AMYH02030681;AY826819;BC053685;BC104646;BC118587;BC121797;CH471082;EF487997;EF487998;FJ997900;NM_016166;U78524;XM_005254734;XM_005254735 AAB58488;AAC36702;AAD49722;AAI18588;AAI21798;AAX18639;ABP49565;ABP49566;ACR77525;BAG37114;BAG52901;EAW77804;EAW77805;NP_057250;O75925;XP_005254791;XP_005254792 Hs.162458 1655705;1681097;1686098;1689845;1848103;2124833;2132922;2156284;2163217;2217744 D15S1092;PIAS1_3912;RH45656;RH46223;RH75732;RH76483;RH99183;SHGC-17413;SHGC-56913;WI-15121 DDXBP1;GBP;GU/RH-II;MGC141878;MGC141879;ZMIZ3 AR interacting protein;DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1;DEAD/H box-binding protein 1;E3 SUMO-protein ligase PIAS1;RNA helicase II-binding protein;gu-binding protein;protein inhibitor of activated STAT protein 1;protein inhibitor of activated STAT-1;zinc finger, MIZ-type containing 3 APPROVED protein-coding HGNC:2752 16029 603566 REVIEWED 732553 PICALM phosphatidylinositol binding clathrin assembly protein This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 11 11 11 q14 82977768 83089435 - 85668214 85780923 - 85957171 86069881 - 1600760;1580863;6480464;7240710;8699517;8554872 12461747 10436022;10926122;11425879;12477932;14702039;14985334;15146197;15182197;1547942;15489334;16262731;16491119;17097559;17170719;17597474;17804713;18029348;18037964;18074379;18094714;18182011;19450545;19734902;19738201;19946888;20460622;20534741;20554627;20558387;20570404;20674675;20697030;20738160;20739100;20838239;20951388;21059989;21139048;21220176;21221849;21297266;21300948;21347408;21358043;21460841;21627779;21706055;21890473;21906983;21912625;21963094;21965661;21987572;21988832;22015308;22064352;22402018;22539346;22539578;22558309;22623428;22639918;22715855;22832961;22888099;22889924;22939629;22943764;22952074;22975751;23040034;23382074;23487024;23572399;23601808;23650005;23670296;23741335;23870418;24067654;24076290;24095218;24162737;24816145;8643484;9737689 8301 E9PI56;E9PJT1;E9PK13;E9PKP6;E9PLJ8;H0YCY1;H0YD48;H0YE97;H0YEF7;H0YEH1;H0YEY8;Q13492 AB210017;AB451308;ABBA01017328;ABBA01017329;ABBA01017330;ABBA01017331;AF060939;AF060940;AK128786;AK291414;AK297062;AK300275;AMYH02025222;AMYH02025223;AMYH02025224;AMYH02025225;AMYH02025226;AP000767;AY326466;BC048259;BC064357;BC073961;CA415536;CH471076;CN310579;DC300074;EF051633;KF455430;KF511164;NG_028942;NM_001008660;NM_001206946;NM_001206947;NM_007166;U45976;XM_005274322;XM_005274323;XM_005274324;XM_005274325;XM_005274326;XM_005274327;XM_005274328;XM_005274329;XM_005274330;XM_005274331;XM_005274332;XM_005274333;XM_005274334;XM_005274335;XM_005274336;XM_005274337;XM_005274338;XM_005274340;XM_006718699;XM_006718700;XM_006718701;XM_006718702 AAB07762;AAC16711;AAC16712;AAH48259;AAH64357;AAH73961;AAR99516;ABK54356;BAE06099;BAF84103;BAG59583;BAG62035;BAG70122;EAW75118;EAW75119;EAW75120;EAW75121;EAW75122;EAW75123;EAW75124;EAW75125;EAW75126;EAW75127;EAW75128;NP_001008660;NP_001193875;NP_001193876;NP_009097;Q13492;XP_005274379;XP_005274380;XP_005274381;XP_005274382;XP_005274383;XP_005274384;XP_005274385;XP_005274386;XP_005274387;XP_005274388;XP_005274389;XP_005274390;XP_005274391;XP_005274392;XP_005274393;XP_005274394;XP_005274395;XP_005274397;XP_006718762;XP_006718763;XP_006718764;XP_006718765 Hs.163893 1673130;1674401;1679662;1716625;1768793;1770329;1851739;1853705;2135376;2156419 D11S3967;RH121569;RH44979;RH66557;RH68651;RH91128;SGC33091;SHGC-24065;SHGC-35169;WI-11672 CALM;CLTH;LAP OTTHUMP00000234630;OTTHUMP00000234631;OTTHUMP00000234633;OTTHUMP00000234635;OTTHUMP00000234637;clathrin assembly lymphoid myeloid leukemia protein;clathrin assembly lymphoid-myeloid leukemia;phosphatidylinositol-binding clathrin assembly protein APPROVED protein-coding ENSG00000073921 HGNC:15514 04320 601626;603025 REVIEWED 1312894 PIBF1 progesterone immunomodulatory binding factor 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; copper(2+) sulfate 13 13 13 q22.1 54254692 54489071 + 73356202 73590592 + 72782092 73016454 + 6480464;8554872 11329013;11407300;11935316;12477932;14634107;15057823;15269099;15305375;15489334;16433831;17500595;19290853;19371956;19898481;20360068;20367622;20936779;21139048;21224392;21632119;21832049;21906983;22032897;22172828;23110211;23807209;24165912;24225150;24255178;24325791;2600930;8607938;9138449;9266004 10464 Q8WXW3 ABBA01050336;ABBA01050337;ABBA01050338;ABBA01050339;AF330046;AK309828;AL354720;AL391384;AMYH02028251;AMYH02028252;AMYH02028253;AY370776;AY375528;BC006009;BC008432;BC041806;BC051911;BG201462;BX341357;CH471093;NM_006346;XM_005266229;XM_006719755;XM_006719756;Y09631 AAH06009;AAH41806;AAH51911;AAL37481;AAQ67659;AAQ73282;CAA70844;EAW80522;EAW80523;NP_006337;Q8WXW3;XP_005266286;XP_006719818;XP_006719819 Hs.441926 1339290;1661199;1713607;1727465;1758955;1766775;1772330;1782890;1848263;2142402;2189783;2189789;2189795;2189805;2189861;2189877;7183979 122g11FWD;126o3FWD;13g14FWD;173e24REV;33j8REV;42o17REV;D13S152;D13S745;G62990;RH120679;RH66028;RH68577;SHGC-151101;SHGC-152094;SHGC-154082;SHGC-8155 C13orf24;CEP90;KIAA1008;PIBF;RP11-505F3.1 OTTHUMP00000018501;progesterone-induced blocking factor 1;progesterone-induced-blocking factor 1 protein-coding ENSG00000083535 HGNC:23352 06337 607532 VALIDATED 1605994 PID1 phosphotyrosine interaction domain containing 1 INVOLVED IN mitochondrion morphogenesis; negative regulation of ATP biosynthetic process; negative regulation of establishment of protein localization to plasma membrane; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 q36.3 223664258 223911580 - 229888689 230136057 - 229023973 229271341 - 6480464;8554872 12477932;14702039;15221005;15489334;16815647;17124247;18029348;19079291;19849947;20010835;20140872;20165904;20205790;21107309;22284633;22968630;23274913;23284291;23927930;8889548 55022 F5H314;Q7Z2X4 AB075874;ABBA01050150;ABBA01050151;ABBA01050152;ABBA01050153;AC006368;AC006375;AC007677;AK000708;AK096636;AK125359;AMYH02005937;AMYH02005938;AMYH02005939;AY317148;BC040164;BU727693;CH471063;DB474424;NM_001100818;NM_017933 AAH40164;AAP79437;AAX88839;AAY14947;BAA91333;BAC86145;BAD38656;BAG53344;EAW70891;NP_001094288;NP_060403;Q7Z2X4 Hs.745038 1337859;1673749;1697576;1705472;1715285;1722211;1757801;1767969;1776821;2116130;2137202;2137204;2139294;2150282;2187629;5095772 D2S2052;D2S2213;D2S2745;G60009;G60553;RH102298;RH11720;RH120473;RH16443;RH36403;RH45521;RH45529;SHGC-146554;SHGC-34101;SHGC-34399;SHGC-83823 FLJ20701;HMFN2073;NYGGF4;P-CLI1;PCLI1 OTTHUMP00000164248;OTTHUMP00000204185;PTB-containing, cubilin and LRP1-interacting protein;phosphotyrosine interaction domain-containing protein 1 protein-coding ENSG00000153823 HGNC:26084 07944 612930 VALIDATED 1323429 PIDD1 p53-induced death domain protein 1 The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 11 11 11 p15.5 865757 871046 - 799179 809872 - 799179 809414 - 1580863;6480464 10825539;10973264;12477932;14702039;15073321;15146197;15489334;16189514;16360037;16652156;16982033;17159900;17329820;17437012;17637755;18238895;18309324;19060904;20208132;20395368;20406701;20966961;21371439;21415862;21988832;22854598;23049853 55367 E9PPT6;H0YE55;Q9HB75 AB208832;AB208949;AB209529;ABBA01015210;AF229178;AF274972;AF465246;AK074893;AL833849;AMYH02024152;AP006621;BC014904;BG723687;BQ059356;BQ214414;BQ924290;BX349115;CH471158;CN427944;CN427946;NM_145886;NM_145887;XM_005253005;XM_005253006;XM_005253007;XM_005253008;XM_006718258;XR_242813;XR_242814 AAF69491;AAG13461;AAH14904;AAP97716;ABW03662;BAC11272;BAD92069;BAD92186;BAD92766;CAD38708;EAX02390;EAX02391;EAX02392;NP_665893;NP_665894;Q9HB75;XP_005253062;XP_005253063;XP_005253064;XP_005253065;XP_006718321 Hs.592290 1673941;1724831 RH123677;SGC30389 DKFZp434D229;LRDD;MGC16925;PIDD OTTHUMP00000164429;OTTHUMP00000229971;leucine-rich and death domain containing;leucine-rich repeat and death domain-containing protein;leucine-rich repeats and death domain containing;p53-induced death domain-containing protein 1;p53-induced protein with a death domain APPROVED protein-coding ENSG00000177595 HGNC:16491 11284 605247 REVIEWED 732673 PI4KB phosphatidylinositol 4-kinase, catalytic, beta ENCODES a protein that exhibits 1-phosphatidylinositol 4-kinase activity (inferred); ATP binding (inferred); INVOLVED IN phosphatidylinositol biosynthetic process (inferred); phosphatidylinositol phosphorylation (inferred); phosphatidylinositol-mediated signaling (inferred); PARTICIPATES IN inositol phosphate metabolic pathway; phosphatidylinositol 3-kinase signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); cytosol (inferred); endoplasmic reticulum (inferred); INTERACTS WITH (+)-catechin; 5-fluorouracil; acetylsalicylic acid 1 1 1 q21 124379704 124414015 - 151264273 151300191 - 151291797 151327715 - 6480464;6907045;8554872 10559940;11277933;11526106;11923287;12244129;12324459;12477932;12749687;14607934;14702039;15324660;15489334;15634669;15778465;16710414;17003043;17081983;17088255;17353931;17555516;18474610;19204726;19605471;19608626;20562859;21218173;21330372;21810903;21851817;22124328;22253445;22258260;22359663;22623531;23258225;24255178;24672044;24876499;9020160;9148941;9405935;9405938;9584208 5298 A6PVV8;E9PL47;F8W860;H0Y4F8;H0YCW3;Q9UBF8 AB005910;ABBA01049390;AJ011121;AK054691;AK294606;AK311292;AL391069;AL832188;AMYH02001878;AX214542;BC000029;BC040300;CH471121;DC350175;DC365634;KF459527;NM_001198773;NM_001198774;NM_001198775;NM_002651;U81802;XM_005245261;XM_005245262;XM_005245263;XM_005245264;XM_005245265;XM_006711385 AAC51156;AAH00029;AAH40300;BAA21661;BAG57793;CAA09495;CAC69371;EAW53449;EAW53450;NP_001185702;NP_001185703;NP_001185704;NP_002642;Q9UBF8;XP_005245318;XP_005245319;XP_005245320;XP_005245321;XP_005245322;XP_006711448 Hs.632465 1718771;1799770;1802464;1802750;1803338;1803424;1805426;1807656;1808478;1808552;1809802;1809804;1810376;1810438;1810440;1810876;1810956;1811748;1812134;1812970;1813914;1814732;1816084;1817442;1818904;1819080;1823842;1827088;1828714;1832966;1835920;1837838;1843000;1844656;1845626;1854931;1857371;1925462;1925464;1925466;1925468;1925470;1925472;1925474;1925476;1925478;1925480;1925482;1925484;1925486;1925488;1925490;1925492;1925494;1925496;1925498;1925500;1925502;1925504;1925506;1925508;1925510;1925512;1925514;1925516;1925518;1925520;1925522;1925524;1925526;1925528;1925530;1925532;1925534;1925536;1925538;1925540;1925542;1925544;1925546;1925548;1925550;1925552;1925554;1925556;1925558;1925560;1925562;1925564;1925566;1925568;1925570;1925572;1925574;1925576;1925578;1925580;1925582;1925584;1925586;1925588;1925590;1925592;1925594;1925596;1925598;1925600;1925602;1925604;1925606;1925608;1925610;1925612;1925614;1925616;1925618;1925620;1925622;1925624;1925626;1925628;1925630;1925632;1925634;1925636;1925638;1925640;1925642;1925644;1925646;1925648;1925650;1925652;1925654;1925656;1925658;1925660;1925662;1925664;1925666;1925668;1925670;1925672;1925674;1925676;1925678;1925680;1925682;1925684;1925686;1925688;1925690;1925692;1925694;1925696;1925698;1925700;1925702;1925704;1925706;1925708;1925710;1925712;1925714;1925716;1925718;1925720;1925722;1925724;1925726;1925728;1925730;1925732;1925734;1925736;1925738;1925740;1925742;1925744;1925746;1925748;1925750;2109649;2131011;2143114;2143176;2154133;2170719;2207594;2207596;2207598;2207600;2207602;2207604;2207606;2207608;2207610;2207612;2207614;2207616;2207618;2207620;2207622;2207624;2207626;2207628;2207630;2207632;2207634;2207636;2207638;2207640;2207642;5491631 A002Y06;Cda0ff08;ECD00739;ECD02118;ECD02262;ECD02565;ECD02609;ECD03660;ECD04800;ECD05221;ECD05258;ECD05893;ECD05894;ECD06180;ECD06212;ECD06213;ECD06436;ECD06476;ECD06878;ECD07072;ECD07499;ECD07984;ECD08397;ECD09082;ECD09771;ECD10516;ECD10606;ECD13013;ECD14659;ECD15484;ECD17624;ECD19121;ECD20089;ECD22708;ECD23542;ECD24031;MARC_27466-27467:1034353260:1;PIK4CB__6996;REN33556;REN33557;REN33558;REN33559;REN33560;REN33561;REN33562;REN33563;REN33564;REN33565;REN33566;REN33567;REN33568;REN33569;REN33570;REN33571;REN33572;REN33573;REN33574;REN33575;REN33576;REN33577;REN33578;REN33579;REN33580;REN33581;REN33582;REN33583;REN33584;REN33585;REN33586;REN33587;REN33588;REN33589;REN33590;REN33591;REN33592;REN33593;REN33594;REN33595;REN33596;REN33597;REN33598;REN33599;REN33600;REN33601;REN33602;REN33603;REN33604;REN33605;REN33606;REN33607;REN33608;REN33609;REN33610;REN33611;REN33612;REN33613;REN33614;REN33615;REN33616;REN33617;REN33618;REN33619;REN33620;REN33621;REN33622;REN33623;REN33624;REN33625;REN33626;REN33627;REN33628;REN33629;REN33630;REN33631;REN33632;REN33633;REN33634;REN33635;REN33636;REN33637;REN33638;REN33639;REN33640;REN33641;REN33642;REN33643;REN33644;REN33645;REN33646;REN33647;REN33648;REN33649;REN33650;REN33651;REN33652;REN33653;REN33654;REN33655;REN33656;REN33657;REN33658;REN33659;REN33660;REN33661;REN33662;REN33663;REN33664;REN33665;REN33666;REN33667;REN33668;REN33669;REN33670;REN33671;REN33672;REN33673;REN33674;REN33675;REN33676;REN33677;REN33678;REN33679;REN33680;REN33681;REN33682;REN33683;REN33684;REN33685;REN33686;REN33687;REN33688;REN33689;REN33690;REN33691;REN33692;REN33693;REN33694;REN33695;REN33696;REN33697;REN33698;REN33699;REN33700;RH123076;RH64677;SHGC-3216;WI-11473;WI-13356;WI-16232;stSG627084;stSG627085;stSG627086;stSG627087;stSG627088;stSG627089;stSG627090;stSG627091;stSG627092;stSG627093;stSG627095;stSG627096;stSG627097;stSG627098;stSG627099;stSG627100;stSG627101;stSG627102;stSG627103;stSG627105;stSG627106;stSG627109;stSG627110;stSG627111;stSG627112 DKFZp686O1820;FLJ30129;NPIK;PI4K-BETA;PI4K92;PI4KBETA;PI4KIIIBETA;PIK4CB OTTHUMP00000014282;OTTHUMP00000014283;OTTHUMP00000014284;OTTHUMP00000014285;OTTHUMP00000230728;PtdIns 4-kinase beta;phosphatidylinositol 4-kinase;phosphatidylinositol 4-kinase beta;phosphatidylinositol 4-kinase, wortmannin-sensitive;type III phosphatidylinositol 4-kinase beta protein-coding ENSG00000143393 HGNC:8984 11805 602758 VALIDATED 6480932 PIEZO1P2 piezo-type mechanosensitive ion channel component 1 pseudogene 2 20 20 57316245 57341389 - 58741189 58766333 - 100874493 ABBA01005970;AL132655;AMYH02037372;NG_032531 pseudo HGNC:42861 INFERRED 1351580 PIEZO1P1 piezo-type mechanosensitive ion channel component 1 pseudogene 1 20 20 20 q13.32 54776406 54776624 - 58035674 58035892 - 59460619 59460837 - 128615 ABBA01005961;AL389889;AMYH02037381;NG_011695 C20orf83;FAM38CP;bA164D18.1 APPROVED pseudo HGNC:16214 INFERRED 69496 PICK1 protein interacting with PRKCA 1 The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 22255002 22273457 + 38453262 38471708 + 38057255 38075701 + 1580863;5131491;6480464 18491053 10027300;10340301;10591208;10623590;10839360;11007882;11237868;11278603;11343649;11641419;11739374;11802773;11891216;12065412;12138111;12399460;12477932;12508107;12529303;12578970;12597860;12826667;12941441;14550765;14702039;15304526;15305146;15458844;15461802;15489334;15811349;16055064;16314870;16712791;16713569;17367885;17553932;17606663;17914463;18692513;19086053;19219857;20018661;20384629;20385472;20562896;21139048;21690291;21890473;21949352;21988832;22275068;22303009;22436349;22710801;24358315;24749734;24937449;7844141;8125298;9405395;9883737 9463 E7EX80;F6TII1;F6V107;F6V3V1;F6VY12;Q9NRD5 AB026491;ABBA01055501;ABBA01055502;AF231710;AK000875;AK092818;AK222640;AK299684;AK308792;AK310629;AL031587;AL049654;AL137355;AMYH02038352;BC017561;CB141073;CH471095;CN482899;CR456550;NM_001039583;NM_001039584;NM_012407;XM_006724377;XM_006724378;XM_006724379;XM_006724380 AAF97502;AAH17561;ABM84036;ABM87383;BAA89294;BAD96360;BAG50834;BAG52614;BAG61591;CAB41082;CAG30436;CAK54581;CAK54880;EAW60207;EAW60208;EAW60209;EAW60210;EAW60211;EAW60212;EAW60213;NP_001034672;NP_001034673;NP_036539;Q9NRD5;XP_006724440;XP_006724441;XP_006724442;XP_006724443 Hs.180871 2186501 G18158 MGC15204;PICK;PRKCABP OTTHUMP00000199277;OTTHUMP00000199289;OTTHUMP00000199291;PRKCA-binding protein;protein interacting with C kinase 1;protein kinase C, alpha binding protein;protein kinase C-alpha-binding protein;protein that interacts with c kinase 1 APPROVED protein-coding ENSG00000100151 HGNC:9394 16176 605926 REVIEWED 1318815 PIEZO1 piezo-type mechanosensitive ion channel component 1 Piezos are large transmembrane proteins conserved among various species, all having between 24 and 36 predicted transmembrane domains. 'Piezo' comes from the Greek 'piesi,' meaning 'pressure.' The FAM38A gene encodes PIEZO1, a protein that induces mechanically activated (MA) currents in various cell types (Coste et al., 2010 [PubMed 20813920]).[supplied by OMIM, Nov 2010] 16 16 16 q24.3 73852958 73920009 - 88781746 88851372 - 88715338 88785204 - 737633;1580863;6480464;7240710;8554872;8699517 12477932 10737800;14702039;16565220;16854388;17081983;18311491;18316326;20016066;20813920;21056836;21299953;21696149;21890473;21906983;21963094;22529292;22790451;22792288;22939629;23000965;23222517;23479567;23487776;23695678;23972840;24798994;9039502 9780 E7EUT2;H0YB49;H3BRR7;H3BSF6;H7C2J5;Q92508 AA825468;AB161230;ABBA01015845;ABBA01015846;ABBA01015847;AC092384;AC138028;AK092007;AL582912;AMYH02032643;AMYH02032644;AMYH02032645;BC008073;BC016983;BC141877;BC150271;BE066337;CH471184;CQ834400;D87071;KC602455;NM_001142864;XM_006721353;XM_006721354 AAH08073;AAI50272;AGH27891;BAA13240;BAF03565;BAG10304;CAH05415;EAW66773;NP_001136336;Q92508;XP_006721416;XP_006721417 Hs.377001;Hs.592074 1340691;1676480;1736594;1783374;2138088;5014053;5022651 D11S2921;D16S2592E;D16S520;D1S3693;RH94123;SHGC-149930;SHGC-61047 DHS;FAM38A;KIAA0233;Mib OTTHUMP00000210574;family with sequence similarity 38, member A;membrane protein induced by beta-amyloid treatment APPROVED protein-coding ENSG00000103335 HGNC:28993 10945 194380;611184 PROVISIONAL 736810 PI4KA phosphatidylinositol 4-kinase, catalytic, alpha This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014] 22 22 22 q11.21 5492598 5494284 + 21061979 21213100 - 20707691 20858812 - 633726;1580863;1300048;6480464;6907045;8554872 8662589 10101268;11907035;12477932;12497619;12594831;1318025;14676841;14702039;15489334;15607035;15634669;16169070;16344560;16606619;17131383;17215244;17555516;17893707;18077555;18521859;18585705;18615484;18646052;18976975;19304308;19605471;19608626;19738201;19913121;19946888;20052689;20530568;20628086;21139048;21238945;21297162;21330372;21601653;21697487;21890473;21900206;21906983;21963094;22022594;22535966;22623428;22896614;22939629;23000965;23675303;24077433;24250222;24393405;24415756;25209194;7761838;7961848;8246987;8889548;9360995;9654085 5297 A8MTF1;B4DYG5;C9JLI1;J3KN10;P42356;Q4LE69 AB210002;ABBA01015442;ABBA01015443;ABBA01015444;ABBA01015445;ABBA01015446;ABBA01015447;AC007050;AC007308;AF012872;AK094594;AK095811;AK124692;AK131431;AK302424;AK314781;AL048955;AMYH02038078;AMYH02038079;AMYH02038080;BC018120;BC046202;BC053654;BU685224;DA959365;KF457363;L36151;NG_033052;NM_002650;NM_058004;XM_005261634;XM_005261635 AAA56839;AAD13352;AAH18120;AAH53654;AAI72398;BAE06084;BAG37317;BAG53136;BAG63727;NP_002641;NP_477352;P42356;XP_005261691;XP_005261692 Hs.529438;Hs.731386 1686943;1707876;1769423;1857929;2124576;2128659;2151485;2154351;2155538;2169579;5113361 D22S1026;D22S1125;D22S1540;D22S311;RH27825;RH27899;RH78571;SHGC-57873;SHGC-82177;STS-M12849;WI-7024 FLJ16556;PI4K-ALPHA;PIK4CA;pi4K230 OTTHUMP00000028907;PI4-kinase alpha;phosphatidylinositol 4-kinase;phosphatidylinositol 4-kinase 230;phosphatidylinositol 4-kinase alpha;phosphatidylinositol 4-kinase, type III, alpha;ptdIns-4-kinase alpha APPROVED protein-coding ENSG00000241973 HGNC:8983 08972 600286 REVIEWED 1316334 PIGB phosphatidylinositol glycan anchor biosynthesis, class B This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008] 15 15 15 q21.3 32499706 32536418 + 55611133 55647906 + 55318935 55355708 + 1580863;6480464;6907045 11102867;12058346;12477932;14702039;15489334;16344560;18198489;20379614;21963094;7907094;8125298;8861954 9488 F5H1S1;H3BNW7;H3BQU3;H3BRK6;H3BS45;Q92521 ABBA01039027;ABBA01039028;ABBA01039029;ABBA01039030;AC018926;AK093138;AK223330;AK293666;AK314706;AMYH02030483;AMYH02030484;AMYH02030485;BC017711;CH471082;CQ834302;D42138;DA598474;NM_004855;XM_005254794;XM_005254795;XM_006720777 AAH17711;BAA07709;BAD97050;BAG37253;BAG57112;CAH05366;EAW77480;NP_004846;Q92521;XP_005254851;XP_005254852;XP_006720840 Hs.612814 1649459;1666777;1668480;1701574 D15S831;RH104421;SHGC-53386;WI-16128 GPI-MT-III;MGC21236;PIG-B GPI mannosyltransferase 3;GPI mannosyltransferase III;dol-P-Man dependent GPI mannosyltransferase;phosphatidylinositol glycan, class B;phosphatidylinositol-glycan biosynthesis class B protein APPROVED protein-coding ENSG00000069943 HGNC:8959 04988 604122 REVIEWED 8662154 PIGBOS1 PIGB opposite strand 1 15 15 55609382 55611387 - 55317184 55319189 - 101928527 ABBA01039030;ABBA01039031;AC018926;AMYH02030483;XR_243151;XR_243152;XR_243153;XR_248129;XR_248130;XR_248131;XR_253375;XR_253376;XR_253377 ncrna ENSG00000225973 HGNC:50696 MODEL 1345467 PIEZO2 piezo-type mechanosensitive ion channel component 2 The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014] 18 18 18 p11.22 10552160 11030879 - 10670244 11148761 - 10723819 10789353 - 1580863;6480464;8699517;8554872;7240710 14702039;15146197;16344560;20813920;21056836;21299953;21866343;22921401;23000965;23259602;23319000;23377640;23400010;23487782;24726473 63895 E7EVM7;J3KRQ5;J3KRW1;J3KSM7;J3QLJ9;Q9H5I5;V9GZ18 ABBA01073980;ABBA01073981;ABBA01073982;ABBA01073983;ABBA01073984;ABBA01073985;ABBA01073986;AK026797;AK027056;AK092226;AK095053;AK127627;AK302764;AMYH02034297;AMYH02034298;AMYH02034299;AMYH02034300;AMYH02034301;AMYH02034302;AMYH02034303;AMYH02034304;AMYH02034305;AMYH02034306;AP001180;AP005117;AP005120;AP005404;AP005793;BF509086;BI829775;BM974712;CN287196;CR747105;DB319508;DV080248;DV080444;DV080488;EG327967;JN790819;KF456344;KF510432;KF510433;NG_034005;NM_022068 AAI48380;AFC88283;BAB15556;BAB15641;BAC03832;BAC87063;BAH13798;NP_071351;Q9H5I5 Hs.436902 1334698;1659251;1671379;1685017;1710402;1714221;1721267;1721877;1740253;1757321;1758735;1766727;1774152;2108081;2137781;2138167;5019863 A004Q08;D18S1083;D18S1158;D18S1299;D18S1326;FAM38B__7631;G54576;G59630;G59969;RH119721;RH65022;SHGC-144721;SHGC-151057;SHGC-152001;SHGC-82479;WI-18080;WI-20202 C18orf30;C18orf58;DA3;DA5;FAM38B;FAM38B2;FLJ23144;FLJ23403;FLJ25916;FLJ34907;FLJ37734;FLJ45725;HsT748;HsT771;MWKS OTTHUMP00000162403;family with sequence similarity 38, member A pseudogene;family with sequence similarity 38, member B;family with sequence similarity 38, member B2;piezo-type mechanosensitive ion channel component 1 pseudogene APPROVED protein-coding ENSG00000154864 HGNC:26270 07636 108145;114300;248700;613629 VALIDATED 1604536 PIFO primary cilia formation ENCODES a protein that exhibits beta-tubulin binding; gamma-tubulin binding; kinesin binding; INVOLVED IN positive regulation of kinase activity; regulation of cell projection organization (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN ciliary basal body (ortholog); trans-Golgi network (ortholog); INTERACTS WITH amiodarone; methyl methanesulfonate; valproic acid 1 1 1 p13.2 110136149 110142593 + 111867285 111895639 + 111324663 111353017 + 6480464;8554872 12477932;20643351;8889548;8889549 128344 Q8TCI5 AA021608;ABBA01068397;AI198934;AK074433;AK303897;AK310801;AL356387;AMYH02001727;BC029237;BC050319;BC068603;BC093891;BC101501;BF674731;BU686257;CH471122;HM237139;HM237140;NM_001300831;NM_181643;NR_125338;XM_005270472;XM_005270474;XM_006710363;XM_006710364 AAH29237;AAH50319;AAH93891;AAI01502;ADI86276;ADI86277;BAB85081;BAG64829;EAW56489;NP_001287760;NP_857594;Q8TCI5;XP_005270529;XP_005270531;XP_006710426;XP_006710427 Hs.172510 1651627;1692678;1851264;2154359 AL034107;D1S1781E;G30959;SHGC-75298 C1orf88;FLJ23853;MGC126550;RP5-1125M8.4 OTTHUMP00000012867;OTTHUMP00000012868;hypothetical protein LOC128344;pitchfork;pitchfork homolog;uncharacterized protein C1orf88 APPROVED protein-coding ENSG00000173947 HGNC:27009 14040 614234 VALIDATED 7241620 PIGCP2 phosphatidylinositol glycan anchor biosynthesis, class C pseudogene 2 7 7 7 q31.1 102256276 102257131 + 107449182 107450037 + 107808737 107809592 + 100128307 ABBA01057902;AC005046;AMYH02016518;CH236947;NG_022571 2177308 DRA pseudo HGNC:45149 INFERRED 1343508 PIGCP1 phosphatidylinositol glycan anchor biosynthesis, class C, pseudogene 1 11 11 11 p13 33243330 33244962 - 33096632 33098264 - 33075086 33076718 - 9325057 5280 AB000359;ABBA01060898;AC131263;AMYH02024561;NG_001175 1649103 G17571 phosphatidylinositol glycan, class c, pseudogene 1 pseudo HGNC:8961 INFERRED 1316743 PIF1 PIF1 5'-to-3' DNA helicase This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013] 15 15 15 q22.31 41986550 41996556 - 65107831 65117867 - 64815630 64825668 - 6480464 10926538;12477932;14702039;16522649;16680374;17172855;17827721;18835853;19700773;20524933;21616935;22347400;23275553;23596008;23657261;23924759 80119 Q9H611 AB185926;AB185927;ABBA01038870;AC091582;AF108138;AK026345;AMYH02030614;AW170361;AY498716;BC018978;BC033254;BC137503;BC137504;CH471082;DQ437529;EU084033;JA893798;NM_001286496;NM_001286497;NM_001286499;NM_025049 AAD44047;AAI37504;AAI37505;AAS77398;ABD92708;ABW71293;BAB15456;BAE47454;BAE47455;CCV01317;EAW77694;EAW77695;EAW77696;NP_001273425;NP_001273426;NP_001273428;NP_079325;Q9H611 Hs.112160 1783204;1851047;5022200;5022578;5037552;5491571;7186442 D15S1318;D1S1423;D8S2279;L18426;MARC_21552-21553:1044288241:1;SHGC-149483 C15orf20;PIF ATP-dependent DNA helicase PIF1;DNA helicase PIF1;DNA helicase homolog PIF1;DNA repair and recombination helicase PIF1;OTTHUMP00000163927;OTTHUMP00000163928;PIF1 5'-to-3' DNA helicase homolog;PIF1 DNA helicase;PIF1/RRM3 DNA helicase-like protein;chromosome 15 open reading frame 20;petite integration frequency 1 APPROVED protein-coding ENSG00000140451 HGNC:26220 10715 610953 REVIEWED 1322738 PIGC phosphatidylinositol glycan anchor biosynthesis, class C This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008] 1 1 1 q23-q25 145520042 145522675 - 172410597 172413230 - 172441453 172444090 - 1580863;6480464;6907045 10944123;11102867;12477932;12655644;15489334;16169070;16710414;20935629;21900206;23670221;7566098;8806613;8900170;9325057;9463366 5279 Q92535;Q9Y476 AA372370;AB000360;ABBA01027919;AK308201;AMYH02002148;BC006539;BC063473;BG106700;BT006734;CH471067;CR450292;D85418;NM_002642;NM_153747;XM_006711383;Z97195 AAH06539;AAP35380;BAA12812;BAA22866;CAG29288;EAW90925;EAW90926;EAW90927;EAW90928;NP_002633;NP_714969;Q92535;XP_006711446 Hs.188456 1693792;1854382;2108367;2123948 D1S1860E;PIGC_8542;RH12889;SHGC-58931 GPI2;MGC2049;PIG-C OTTHUMP00000032652;OTTHUMP00000032653;phosphatidylinositol N-acetylglucosaminyltransferase subunit C;phosphatidylinositol-glycan biosynthesis class C protein;phosphatidylinositol-glycan biosynthesis, class C protein APPROVED protein-coding ENSG00000135845 HGNC:8960 03433 601730 REVIEWED 1350762 PIGAP1 phosphatidylinositol glycan anchor biosynthesis, class A, pseudogene 1 12 12 12 q21 100637750 100641788 + 100972412 100976450 + 100578634 100582672 + 8081362 5278 ABBA01053252;AC010200;AMYH02027059;NG_001174;X77457 1702224 GDB:604488 phosphatidylinositol glycan, class a, pseudogene 1 pseudo HGNC:8958 INFERRED 1347332 PIGFP1 phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 1 5 5 5 q35 173976503 173977397 + 178349021 178349915 + 178922020 178922914 + 8575782 5282 ABBA01010009;AC104117;AMYH02012867;D49727;NG_001176 phosphatidylinositol glycan, class f, pseudogene 1 pseudo HGNC:8963 INFERRED 1351645 PIGF phosphatidylinositol glycan anchor biosynthesis, class F This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 2 p21-p16 46647088 46682932 - 46808413 46844251 - 46581274 46617112 - 1580863;6480464;6907045 10781593;11102867;12477932;15489334;15632136;16702473;16702604;16794222;17028267;17964973;18466718;18805052;19201345;19658040;19712973;20416077;20452482;20673868;20966902;21448460;23333304;23661335;24166749;24250222;24921169;8081220;8463218;8575782 5281 E5RIN5;F8WEN5;H7C392;Q07326;Q6IB04 ABBA01075139;AC018682;AK291108;AMYH02003738;BC021725;BC029408;CH471053;CR457000;D13435;D49725;NM_002643;NM_173074;XM_005264369 AAH21725;AAH29408;AAY14835;ABM83564;ABM86802;BAA02697;BAF83797;CAG33281;EAX00240;EAX00241;EAX00242;EAX00243;EAX00244;EAX00245;NP_002634;NP_775097;Q07326;XP_005264426 Hs.468415 1665193;1682541;1725825;2120883;2152737;2180442;5024163;5109769 D14S659E;D2S2603;G31523;G62001;RH92629;SHGC-32727;SHGC-64130;WI-7257 MGC32646;MGC33136;PIG-F GPI11 homolog;OTTHUMP00000159030;OTTHUMP00000159031;phosphatidylinositol glycan, class f;phosphatidylinositol-glycan biosynthesis class F protein APPROVED protein-coding ENSG00000151665 HGNC:8962 02539 600153 REVIEWED 7241771 PIGFP2 phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 2 9 9 9 97252472 97253419 + 126605212 126606159 + 123842933 123843880 + 100422349 ABBA01043735;AL390774;AMYH02021617;NG_023955 pseudo HGNC:45150 INFERRED 7241732 PIGFP3 phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 3 X X p21.2 30035280 30035998 - 30017163 30017881 - 100129049 ABBA01072894;AC129352;AMYH02039104;NG_022588 1669333;2118367 DXS8362;G10456 pseudo HGNC:45151 INFERRED 7241607 PIGHP1 phosphatidylinositol glycan anchor biosynthesis, class H pseudogene 1 15 15 15 q22.2 36856913 36857474 + 59968956 59969517 + 59676757 59677318 + 644761 ABBA01038956;AC092755;AMYH02030549;NG_022130;NG_029765 1683162;1721427;2124801;2137189 G59565;RH65383;SHGC-57103;WI-7305 pseudo HGNC:45152 INFERRED 1322902 PIGH phosphatidylinositol glycan anchor biosynthesis, class H This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008] 14 14 14 q24.1 48115088 48126092 - 68048225 68067017 - 67589306 67600300 - 1580863;6480464;6907045 10944123;11102867;12477932;15342556;15489334;17207965;18029348;18187620;21103663;22505724;24250222;8204896;8407896;8900170;9463366 5283 B4DEE2;H0YKI1;H0YKZ3;H0YLD0;H0YLY9;H0YMT4;H0YMV4;H0YNL7;Q14442 ABBA01023708;AI633958;AK314108;AL132640;AMYH02029401;BC004100;BC071849;BP244435;BT006804;CH471061;L19783;NM_004569;XM_006720172 AAA03545;AAH04100;AAH71849;AAP35450;ADQ32792;BAG36801;EAW80941;EAW80942;NP_004560;Q14442;XP_006720235 Hs.553497 1661521;1683162;1721427;2107505;2110661;2124801;2137189;2167886;2175770 G35662;G59565;PIGH__6991;PLEKHH1__5720;RH17629;RH65383;RH68731;SHGC-57103;WI-7305 GPI-H;PIG-H OTTHUMP00000246879;phosphatidylinositol N-acetylglucosaminyltransferase subunit H;phosphatidylinositol glycan, class H;phosphatidylinositol-glycan biosynthesis class H protein;phosphatidylinositol-glycan biosynthesis, class H protein APPROVED protein-coding ENSG00000100564 HGNC:8964 02540 600154 REVIEWED 1603213 PIGG phosphatidylinositol glycan anchor biosynthesis, class G ENCODES a protein that exhibits CP2 mannose-ethanolamine phosphotransferase activity; INVOLVED IN GPI anchor biosynthetic process; PARTICIPATES IN glycosylphosphatidylinositol anchor biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; membrane; INTERACTS WITH elemental selenium; methyl methanesulfonate; selenium atom 4 4 4 p16.3 434691 474916 + 492989 533320 + 499200 539921 + 6480464;6907045;8554872 11102867;12477932;12975309;14702039;15489334;15632136;16303743;16344560;19724895;19851296;19946888;20198315;21832049;21890473;21906983;23864651;24639526 54872 D6R9J9;D6RC16;D6RD39;D6RFE8;E7EM50;E7EWV1;Q5H8A4;Q8NCI4 AB162713;ABBA01019328;ABBA01019329;AC092574;AC116565;AK000272;AK027465;AK074715;AK074815;AK097244;AK296507;AK309107;AL137741;AL157494;AL162084;AMYH02008554;AMYH02008555;AW451782;AY358538;BC000937;BC001249;BC050262;BC110878;BC144576;CH471131;CQ782750;DA548833;NM_001127178;NM_001289051;NM_001289052;NM_001289053;NM_001289055;NM_001289057;NM_017733;NR_110293;XM_005272283;XM_005272284;XM_005272287;XM_005272288;XM_005272289;XM_006713892 AAH00937;AAH01249;AAI10879;AAQ88902;BAA91046;BAB55130;BAC04984;BAC11157;BAC11227;BAD89023;BAG59139;CAF85981;CAH10692;EAW82663;EAW82664;EAW82665;NP_001120650;NP_001275980;NP_001275981;NP_001275982;NP_001275984;NP_001275986;NP_060203;Q5H8A4;XP_005272340;XP_005272341;XP_005272344;XP_005272345;XP_005272346;XP_006713955 Hs.7099 1847369;2148241;2178270 D4S2526E;RH18252;SHGC-59788 DKFZp434A1810;DKFZp434C1712;DKFZp434M1131;FLJ20265;FLJ39925;GPI7;LAS21;MGC131903;PIG-G;PRO4405;RLGS1930;hGPI7 GPI ethanolamine phosphate transferase 2;GPI7 homolog;OTTHUMP00000140261;OTTHUMP00000216586;OTTHUMP00000216587;OTTHUMP00000216592;phosphatidylinositol glycan, class G;phosphatidylinositol-glycan biosynthesis class G protein protein-coding ENSG00000174227 HGNC:25985 07890 VALIDATED 1346161 PIGM phosphatidylinositol glycan anchor biosynthesis, class M This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 133065903 133070225 - 159997462 160001783 - 160027672 160031993 - 70624;1580863;6480464;6907045;7240710;8699517;8554872 11226175 11102867;12477932;15489334;15635094;16303743;16710414;16767100;19322201;21988832;23329837 93183 Q9H3S5 AB028127;ABBA01016617;AK074655;AL513302;AMYH02002018;BC001803;BC011395;BC019865;BX643162;CH471121;CQ783538;CQ834396;NG_012238;NM_145167 AAH01803;AAH19865;BAB18567;BAC11116;CAF86713;CAH05413;EAW52751;EAW52752;NP_660150;Q9H3S5 Hs.552810 1647989;1769801;2169958;5037552 D8S2279;RH68788;RH68891;STS-Z40760 GPI-MT-I;MGC29896 DPM:GlcN-(acyl-)PI mannosyltransferase;GPI mannosyltransferase 1;GPI mannosyltransferase I;OTTHUMP00000025755;PIG-M mannosyltransferase;dol-P-Man dependent GPI mannosyltransferase;phosphatidylinositol-glycan biosynthesis class M protein APPROVED protein-coding ENSG00000143315 HGNC:18858 15133 610273;610293 REVIEWED 1607087 PIGA phosphatidylinositol glycan anchor biosynthesis, class A This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010] X X X p22.1 19453077 19469182 - 15337573 15353676 - 15319451 15335554 - 6480464;6907045;7240710;8554872;8699517 10087994;10944123;11102867;12037021;12130519;12411324;12424196;12477932;14702039;15489334;15625823;15687243;16162815;16344560;16923549;17823237;19013003;19074066;19322201;19540188;19946888;20034593;20060400;20533382;21116280;21963094;22305531;22315493;24250222;24357517;24706016;7680492;8081230;8081362;8167330;8193350;8306954;8500164;8557259;8900170;9463366 5277 B3KUV7;P37287 ABBA01071290;ABBA01071291;ABBA01071292;AC095351;AK098047;AK290497;AK303538;AK304144;AK315063;AMYH02038912;BC038236;BM998465;BQ026877;CH471074;CX870731;D11466;D28791;DA951065;DC347872;NG_009786;NM_002641;NM_020473;NR_033835;NR_033836;S61523;S74936;X77729 AAD13929;AAD14160;AAH38236;ADZ15406;BAA02019;BAA05966;BAF83186;BAG37537;BAG53569;BAG64564;BAG65037;EAW98879;EAW98880;EAW98881;EAW98882;EAW98883;EAW98884;NP_002632;NP_065206;P37287 Hs.137154 1702128;1702224;1702302;1745389;1853483;2107503;2148432;2174371;5106100 DXS1296;GDB:604019;GDB:604486;GDB:604488;PIGA;PIGA__6990;SHGC-30072;STS-D11466;WI-13794 GPI3;MCAHS2;PIG-A;PNH1 GLCNAC-PI synthesis protein;GPI anchor biosynthesis;OTTHUMP00000022959;class A GlcNAc-inositol phospholipid assembly protein;phosphatidylinositol N-acetylglucosaminyltransferase subunit A;phosphatidylinositol-glycan biosynthesis, class A protein APPROVED protein-coding ENSG00000165195 HGNC:8957 02410 300818;300868;311770 REVIEWED 7241612 PIGPP3 phosphatidylinositol glycan anchor biosynthesis, class P pseudogene 3 20 20 20 q11.22 29305748 29306138 + 32552992 32553379 + 33965186 33965573 + 100128033 ABBA01019215;AL034549;AMYH02036964;NG_030237 pseudo HGNC:45155 INFERRED 1316260 PIGP phosphatidylinositol glycan anchor biosynthesis, class P This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 21 21 21 q22.2 23636029 23643823 - 38437664 38445458 - 37065364 37073158 - 1580863;6480464;6907045 10814524;10830953;10907851;10944123;11102867;11331941;12477932;15221505;15489334;20379614;24250222 51227 C9JKT1;P57054 AB035742;AB035743;AB035744;AB035745;AB037162;AB037163;AB037164;AB039659;AB451328;AB451472;ABBA01057411;AF216305;AF237812;AI127387;AK026311;AK304656;AK314457;AK316609;AMYH02037793;AP000704;AP001429;AP001431;AP001727;AX888037;BC005180;BC011007;BE275469;BT007053;CH471079;KC877872;NM_153681;NM_153682;NR_028352;XM_005260990;XM_006724010 AAF32289;AAG09757;AAH05180;AAH11007;AAP35702;BAA95512;BAA95633;BAA95634;BAA95635;BAA95636;BAA96871;BAA96872;BAA96873;BAB12395;BAG37065;BAG38196;BAG65431;BAG70142;BAG70286;CAE93962;EAX09724;EAX09725;EAX09726;EAX09727;EAX09728;NP_710148;NP_710149;P57054;XP_005261047;XP_006724073 Hs.656565;Hs.716087 2109251 DSCR5_9688 DCRC;DCRC-S;DSCR5;DSRC;PIG-P Down syndrome critical region gene 5;Down syndrome critical region protein 5;Down syndrome critical region protein C;OTTHUMP00000109075;OTTHUMP00000109076;OTTHUMP00000109077;OTTHUMP00000109078;OTTHUMP00000109079;phosphatidylinositol N-acetylglucosaminyltransferase subunit P;phosphatidylinositol glycan, class P;phosphatidylinositol-glycan biosynthesis class P protein;phosphatidylinositol-n-acetylglucosaminyltranferase subunit APPROVED protein-coding ENSG00000185808 HGNC:3046 05806 605938 REVIEWED 1322753 PIGN phosphatidylinositol glycan anchor biosynthesis, class N This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008] 18 18 18 q21.33 56430705 56573517 - 59711457 59854289 - 62044224 62187056 - 1580863;6480464;6907045;8699517;7240710;8554872 10069808;10574991;11102867;12477932;15489334;16341674;16344560;19322201;19690890;19946888;20379614;21493957;21903422;21963094;21988832;22876578;8889548 23556 K7EID9;K7EJM6;K7EK83;K7EL34;K7ELE1;K7EM45;K7EM62;K7EMD7;K7ENC3;K7ENK2;K7EPJ2;K7EPN0;K7EQ07;K7EQG0;K7ERX5;K7ESH9;O95427 ABBA01056188;ABBA01056189;ABBA01056190;AC090354;AC090396;AF109219;AK000730;AK315134;AL137607;AMYH02034864;AMYH02034865;AMYH02034866;BC028363;BF112133;BM683126;BM830623;BQ023276;BU739970;CH471096;DB093302;DB239067;FP340563;NG_033144;NM_012327;NM_176787 AAD11432;AAH28363;ADZ15526;BAG37585;CAB70839;EAW63116;EAW63117;EAW63118;EAW63119;NP_036459;NP_789744;O95427 Hs.157031 1687816;1690011;1852688;1857488;2012646;2012682;2013176;2142132;2169459;2169461;2179818 A001Z15;G19812;REN77252;REN77270;REN77522;RH66563;RH80923;RH91991;SGC44499;SHGC-44499;STS-Z41050 MCAHS;MCAHS1;MCD4;MDC4;MGC26427;PIG-N GPI ethanolamine phosphate transferase 1;MCD4 homolog;phosphatidylinositol glycan, class n;phosphatidylinositol-glycan biosynthesis class N protein APPROVED protein-coding ENSG00000197563 HGNC:8967 12085 606097;614080 REVIEWED 1347377 PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 16 16 16 p13.3 820410 834887 + 619968 634136 + 569968 584136 + 1580863;6480464;6907045;8554872 10373468;10944123;11102867;11157797;11418246;12477932;14702039;15231748;15489334;15616553;16344560;19851296;20198315;21890473;22993228;9463366;9729469 9091 B2RAU6;B8ZZ29;B8ZZ31;B8ZZC7;E7ERP4;H0YFM9;H7C336;J3QTH6;Q9BRB3 AB003723;ABBA01030361;ABBA01030362;AE006464;AF030177;AK055163;AK092073;AK300297;AK314361;AMYH02031196;BC006377;BC010094;CH471112;DA206420;NG_034206;NM_004204;NM_148920;R45240;Z98883 AAC32661;AAH06377;AAK61235;ABM83588;ABM86829;BAA24948;BAG36993;BAG52479;BAG62051;EAW85795;EAW85796;EAW85797;EAW85798;EAW85799;EAW85800;NP_004195;NP_683721;Q9BRB3 Hs.741878;Hs.744949 5118444 D11S3316 FLJ56783;GPI1;MGC12693;PIG-Q;c407A10.1;hGPI1 N-acetylglucosaminyl transferase component Gpi1;N-acetylglucosamyl transferase component GPI1;OTTHUMP00000045525;OTTHUMP00000147598;OTTHUMP00000205086;OTTHUMP00000205087;OTTHUMP00000237697;c407A10.1 (GPI1 (N-acetylglucosaminyl transferase component));phosphatidylinositol N-acetylglucosaminyltransferase subunit Q;phosphatidylinositol glycan, class Q;phosphatidylinositol-glycan biosynthesis class Q protein APPROVED protein-coding ENSG00000007541 HGNC:14135 09307 605754 REVIEWED 1315550 PIGK phosphatidylinositol glycan anchor biosynthesis, class K This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008] 1 1 1 p31.1 75794094 75924500 - 77554666 77685132 - 77088981 77219447 - 1580863;6480464;6907045;8554872 10727241;10793132;11278620;11483512;12052837;12477932;12582175;12616539;12802054;14702039;15489334;16196087;16344560;16710414;17207965;18187620;1846368;19946888;21139048;21906983;21963094;22268729;22824918;22939629;8978684;9356492 10026 A6NEM5;B1AK81;Q92643;S4R3M5 ABBA01074403;AC093433;AC113935;AF022913;AK055071;AK304340;AK313015;AL035409;AMYH02001294;AMYH02001295;AMYH02001296;BC020737;BC026186;BX648473;CH471059;DA263434;KC876885;NM_005482;Y07596 AAB81597;AAH20737;ADQ32189;BAG35850;BAG65185;CAA68871;EAX06380;EAX06381;EAX06382;EAX06383;NP_005473;Q92643 Hs.178305 1341145;1687710;1716905;1717035;1722657;1726885;2108867;2179883;2185309;5110843;7186287 D1S216;G60412;G62685;PIGK_9029;RH121835;RH124080;RH81087;SHGC-75019;SHGC-75037;STS-Y07596 GPI8;MGC22559;PIG-K GPI transamidase subunit;GPI-anchor transamidase;GPI8 homolog;OTTHUMP00000011255;OTTHUMP00000011256;OTTHUMP00000011257;phosphatidylinositol glycan, class K;phosphatidylinositol-glycan biosynthesis class K protein APPROVED protein-coding ENSG00000142892 HGNC:8965 05474 605087 REVIEWED 737525 PIGR polymeric immunoglobulin receptor This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009] 1 1 1 q31-q41 180353371 180371315 - 207101867 207119814 - 206928522 206946469 - 1580863;6480464;6484113;8554872 10227981;10229845;10540352;10556562;10809756;11012775;11030626;11034397;11376148;11509627;11579946;11714807;11832247;12121890;12165516;12183558;12186846;12213814;12477932;12546713;12654638;12740691;1355431;13679368;14631119;14644095;14660617;15084671;15265917;15530357;15864740;15972671;16048543;16086865;16272325;16288892;16335952;16502470;16740002;1682231;17353931;17428798;17460948;1859628;19056867;19338768;1940346;19913121;20360068;20628086;20829350;21454571;21965228;22022593;22025622;22053820;22145905;23128233;23602568;23809084;24850914;2920039;3197448;3917857;6526384;7107583;7989333;8125298;8455639;9182878;9237679 5284 P01833;Q8TE27 A52091;ABBA01048247;AC098935;AF261083;AF272149;AK225471;AK310199;AMYH02002558;AY178835;BC110061;BC110494;BC110495;CH471100;CR749533;M24559;NG_012927;NM_002644;S43449;S62403;X73079;XM_005273163 AAA36102;AAB20203;AAB23176;AAF72193;AAI10495;AAI10496;AAN65630;CAA03384;CAA51532;CAH18339;EAW93515;EAW93516;NP_002635;P01833;XP_005273220 Hs.497589 1652877;1668199;1754807;1764847;1792352;1792354;1847738;2135091;5014051;5015406;5016478;5022578;5037552 D1S1423;D1S3524;D8S2278;D8S2279;G15929;GDB:434012;PMC149362P1;PMC149362P2;RH69104;RH69956;SHGC-141724;SHGC-148408;SHGC-76265 FLJ22667;MGC125361;MGC125362 OTTHUMP00000034748;hepatocellular carcinoma associated protein TB6;hepatocellular carcinoma-associated protein TB6;poly-Ig receptor APPROVED protein-coding ENSG00000162896 HGNC:8968 01436 173880 REVIEWED 1342664 PIGL phosphatidylinositol glycan anchor biosynthesis, class L This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008] 17 17 17 p12-p11.2 16023433 16132500 + 16120509 16230098 + 16217195 16326784 + 1580863;6480464;6907045;8699517;7240710;8554872 10085243;11102867;12477932;14702039;14742432;15489334;17207965;19460752;22444671;22959728;9188481 9487 A8MTV0;B4DJK6;B4DYN4;J3KRR5;J3KSD1;J3QLG8;J3QQI7;M0QYT4;Q9Y2B2 AB017165;ABBA01035656;ABBA01035657;ABBA01035658;ABBA01035659;ABBA01035660;ABBA01035661;AC005971;AI888858;AK023469;AK292932;AK296120;AK302523;AMYH02033070;AMYH02033071;AMYH02033072;AMYH02033073;BC068197;BX404762;CH471222;NG_032651;NM_004278;XM_006721596;XR_243571;XR_429826 AAH68197;ADQ32060;BAA74775;BAF85621;BAG58868;BAG63796;EAX04497;EAX04498;NP_004269;Q9Y2B2;XP_006721659 Hs.499793;Hs.625050 1669172;1690422;1736921;2114968;2124914;2130325;5015619;5037552 D11S3114;D17S1527;D17S1568;D17S2037;D8S2279;RH91147;SHGC-24126;WI-18028 PIG-L CHIME;N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase;N-acetylglucosaminylphosphatidylinositol deacetylase;OTTHUMP00000065643;OTTHUMP00000065644;phosphatidylinositol glycan, class L;phosphatidylinositol-glycan biosynthesis class L protein APPROVED protein-coding ENSG00000108474 HGNC:8966 12071 280000;605947 REVIEWED 7241618 PIGUP1 phosphatidylinositol glycan anchor biosynthesis, class U pseudogene 1 9 9 9 44103992 44104734 - 73531682 73532424 - 70916766 70917508 - 100422342 ABBA01033831;AL356318;AMYH02020960;NG_023833 pseudo HGNC:45158 INFERRED 1354267 PIGS phosphatidylinositol glycan anchor biosynthesis, class S This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008] 17 17 17 p13.2 23739431 23757914 - 26880405 26898887 - 28553388 28571869 - 1580863;6480464;6907045 11483512;12052837;12477932;12582175;12802054;12975309;14702039;15489334;15713669;16303743;16344560;1846368;19946888;21139048;21890473;21906983;22268729;22678362;22939629 94005 H0Y2N5;K7EN97;Q8NBL9;Q96IR5;Q96S52 AB057723;ABBA01015052;ABBA01015053;ABBA01015054;AC005726;AF161427;AK025825;AK055512;AK075428;AK127162;AK297046;AK314583;AMYH02033223;AW084841;AY359112;BC001319;BC007301;BC069228;BX640839;CH471159;CQ834886;DA591284;NM_033198 AAF28987;AAH01319;AAH07301;AAH69228;AAQ89470;BAB60853;BAB70938;BAC11615;BAG37159;BAG54444;BAG59572;CAE45912;CAH05658;EAW51099;EAW51100;EAW51101;EAW51102;EAW51103;NP_149975;Q96S52 Hs.462550 1663292;1689640;1734534;1778430;2107827;5020948 ALDOC_8198;D17S1465E;D17S2156;G20535;G35510;RH17002 DKFZp686K20216;FLJ45226 GPI transamidase component PIG-S;GPI transamidase subunit;OTTHUMP00000163433;OTTHUMP00000163434;phosphatidylinositol glycan, class S;phosphatidylinositol-glycan biosynthesis class S protein APPROVED protein-coding ENSG00000087111 HGNC:14937 15135 610271 REVIEWED 1316180 PIGT phosphatidylinositol glycan anchor biosynthesis, class T This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 20 20 20 q12-q13.12 40753217 40763395 + 44044707 44054885 + 45416067 45426245 + 1580863;6480464;6907045;8699517;7240710;8554872 10810093;11483512;11483580;11549316;11780052;12052837;12477932;12582175;12655644;12975309;15489334;15713669;16169070;16303743;16344560;16516892;1846368;19946888;21139048;21252943;21890473;21963094;22939629;23000965;23636107;23733340;24250222;8125298 51604 B7Z1N3;B7Z7C5;H7C2Y2;Q969N2 AB057724;ABBA01052660;AF132940;AF305815;AK075469;AK225517;AK293294;AK293686;AK296063;AK296139;AK297830;AK299013;AK301815;AK302093;AK311100;AK311416;AK311492;AK311520;AK311522;AK316358;AL021578;AL121742;AMYH02037150;AY358588;BC015022;BC110892;BC136827;BC136828;BP392024;BX537612;CH471077;CS051295;DA037291;DC384944;DC399420;NM_001184728;NM_001184729;NM_001184730;NM_015937;NR_047691;NR_047692;NR_047693;NR_047694;NR_047695;XM_005260430;XM_005260432 AAD27715;AAH15022;AAI10893;AAI36828;AAI36829;AAK55518;AAQ88951;BAB60854;BAC11639;BAH11487;BAH11569;BAH12247;BAH12267;BAH12673;BAH12928;BAH13561;BAH13624;BAH14729;CAB57341;CAD97799;CAI72142;EAW75841;EAW75842;EAW75843;EAW75844;EAW75845;EAW75846;NP_001171657;NP_001171658;NP_001171659;NP_057021;Q969N2;XP_005260487;XP_005260489 Hs.437388 1672050;1685115;2130380;5015861;5022588;5022651;7185938 D10S16;D11S2921;D5S1597E;RH80364;STS-AA032233;WI-12135 CGI-06;FLJ41596;MCAHS3;MGC8909;NDAP;PNH2 GPI transamidase component PIG-T;GPI transamidase subunit;OTTHUMP00000031110;OTTHUMP00000031112;neurotrophin-regulated neuronal development-associated protein;phosphatidyl inositol glycan class T;phosphatidylinositol-glycan biosynthesis class T protein APPROVED protein-coding ENSG00000124155 HGNC:14938 15136 610272;615398;615399 REVIEWED 1319869 PIGO phosphatidylinositol glycan anchor biosynthesis, class O This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 9 9 9 p13.3 35020661 35028552 - 35087028 35096598 - 35087031 35096601 - 6480464;6907045;8699517;7240710;8554872 10781593;11102867;12044878;12477932;12975309;15164053;15489334;16751776;19913121;19946888;20379614;20628086;21139048;21832049;21890473;21906983;21963094;22683086;24417746;8889548 84720 Q8TEQ8 AB083625;ABBA01064997;AC004472;AK074064;AK090433;AL353795;AL833956;AMYH02019455;AW149348;AY358472;BC001030;BC013987;BC029271;BC036916;BC065282;BE139632;BI818120;BU727886;CD387014;CH471071;CR985224;CR991745;DQ575362;NG_031990;NM_001201484;NM_032634;NM_152850;XM_005251619;XR_242515 AAC07985;AAH01030;AAH13987;AAH29271;AAH36916;AAH65282;AAQ88836;BAB84890;BAB89338;BAC03414;CAD38806;EAW58397;EAW58398;EAW58399;EAW58400;NP_001188413;NP_116023;NP_690577;Q8TEQ8;XP_005251676 Hs.522099;Hs.735712 1651731;1665639;5015961;5017170;5037552 D15S1477;D8S2279;L29953;STS-T65159;WI-20557 DKFZp434M222;FLJ00135;HPMRS2;MGC20536;MGC3079;PIG-O;RP11-182N22.4 GPI ethanolamine phosphate transferase 3;OTTHUMP00000021324;OTTHUMP00000021325;phosphatidylinositol-glycan biosynthesis class O protein APPROVED protein-coding ENSG00000165282 HGNC:23215 15134 614730;614749 REVIEWED 1352879 PIGW phosphatidylinositol glycan anchor biosynthesis, class W Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol (Murakami et al., 2003 [PubMed 14517336]).[supplied by OMIM, Mar 2008] 17 17 17 q12 31713466 31717424 + 34890849 34895217 + 36534973 36539368 + 1299613;1580863;6480464;6907045 14517336 11102867;12714589;14702039;21890473;21906983 284098 Q7Z7B1 AB097818;ABBA01012426;AC126327;AC233698;AC233700;AK094752;BC054025;BC144220;CH471199;NM_178517;XM_005257238;XM_006721831;XM_006725317;XM_006725318 AAI56434;AAI60092;AAI72479;BAC04413;BAC77021;EAW57563;EAW57564;NP_848612;Q7Z7B1;XP_005257295;XP_006721894;XP_006725380;XP_006725381 Hs.378885 5024761 RH36905 FLJ37433;Gwt1;HPMRS5;PIG-W OTTHUMP00000164080;OTTHUMP00000164081;phosphatidylinositol glycan, class W;phosphatidylinositol-glycan biosynthesis class W protein APPROVED protein-coding ENSG00000277161 HGNC:23213 11432 610275;616025 VALIDATED 1349310 PIGV phosphatidylinositol glycan anchor biosynthesis, class V This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] 1 1 1 p36.11 25511490 25521891 + 27113739 27124894 + 26787963 26798403 + 1580863;6480464;6907045;7240710;8554872;8699517 11102867;12477932;14702039;15489334;15623507;15720390;16344560;16710414;20802478;21739589;21890473;22228761;23694781;23824909;24097068;8125298 55650 B4DWP9;E9PQC7;Q9NUD9;X1WI27 ABBA01034925;ABBA01034926;AK000484;AK056539;AK225521;AK301626;AL034380;AMYH02000575;AMYH02000576;AX405789;BC013568;BI463967;CH471059;CQ834324;CQ834446;CQ834448;CX867528;DA280125;NG_028133;NM_001202554;NM_017837 AAH13568;BAA91196;BAG63111;CAD34896;CAH05377;CAH05438;CAH05439;EAX07790;EAX07791;EAX07792;NP_001189483;NP_060307;Q9NUD9 Hs.259605;Hs.732254 1665572;2138720;2152121 D1S2522;D1S3416;SHGC-74476 FLJ20477;GPI-MT-II;HPMRS1;PIG-V;RP1-50O24.2 GPI mannosyltransferase 2;GPI mannosyltransferase II;OTTHUMP00000004120;OTTHUMP00000004121;Ybr004c homolog;dol-P-Man dependent GPI mannosyltransferase;phosphatidylinositol glycan, class V;phosphatidylinositol-glycan biosynthesis class V protein APPROVED protein-coding ENSG00000060642 HGNC:26031 07912 239300;610274 REVIEWED 1605909 PIGY phosphatidylinositol glycan anchor biosynthesis, class Y The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012] 4 4 4 q22.1 86738822 86741642 - 89442129 89444952 - 88520978 88523801 - 6480464;6907045 12477932;15489334;16162815;19302917;20877624;21890473;21988832;22925353;24816145 84992 Q3MUY2 AB206972;ABBA01063554;AC083829;AMYH02009697;BC007876;BI548853;DB519150;NM_001042616 AAH07876;BAE44507;NP_001036081;Q3MUY2 Hs.26136;Hs.743393 2132314 SHGC-59828 MGC14156;PIG-Y;PREY OTTHUMP00000161562;phosphatidylinositol N-acetylglucosaminyltransferase subunit Y;phosphatidylinositol glycan, class Y;phosphatidylinositol-glycan biosynthesis class Y protein;protein preY, mitochondrial APPROVED protein-coding ENSG00000255072 HGNC:28213 17492 610662 REVIEWED 1347899 PIH pregnancy-induced hypertension (pre-eclampsia, eclampsia, toxemia of pregnancy included) 1550119 5285 HGNC:8969 1352875 PIGU phosphatidylinositol glycan anchor biosynthesis, class U The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008] 20 20 20 q11.22 29897474 30014189 - 33148346 33265089 - 34560542 34677285 - 1580863;6480464;6907045;8554872 11483512;11780052;12477932;12802054;12975309;14660601;15034568;15489334;16303743;1846368;18488026;19946888;20224305;21048031;21139048;21890473;21906983;21963094;22505724;22939629;23000965 128869 Q5JWU1;Q9H490 AB086842;ABBA01019189;ABBA01019190;ABBA01019191;AK075507;AK301900;AK308627;AL118520;AMYH02036980;AMYH02036981;AMYH02036982;AMYH02036983;AY339061;AY358816;AY422169;BC030512;CH471077;NG_011497;NM_080476 AAH30512;AAQ18022;AAQ89175;AAR23798;ACE86610;ACE87291;BAC11660;BAC53626;BAG63328;EAW76259;EAW76260;EAW76261;EAW76262;NP_536724;Q9H490 Hs.253319 1677210;1693420;1723889;1774439 AL034522;RH119466;RH46990;RH93624 CDC91L1;GAB1;MGC40420 CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1;GPI transamidase component PIG-U;GPI transamidase subunit;OTTHUMP00000030693;cell division cycle 91-like 1 protein;cell division cycle protein 91-like 1;phosphatidylinositol glycan anchor biosynthesis class U protein;protein CDC91-like 1 APPROVED protein-coding ENSG00000101464 HGNC:15791 12250 608528 REVIEWED 1605995 PIH1D1 PIH1 domain containing 1 INVOLVED IN box C/D snoRNP assembly; epithelial cell differentiation; FOUND IN pre-snoRNP complex; INTERACTS WITH (+)-catechin; cobalt dichloride; copper(2+) sulfate 19 19 19 q13.33 46817056 46822614 - 49949550 49955266 - 49446293 49452004 - 6480464 12477932;14676191;15670595;16189514;17207965;17636026;17643375;19450687;19875381;20078948;20371770;20801936;21078300;21139048;21890473;21900206;21988832;22368283;22863883;22939629;23159623;24036451;25036637;8889549 55011 M0QXD5;M0QYA2;M0QYF4;M0QZ61;M0QZM3;M0QZZ1;M0R028;M0R0J2;M0R1R3;M0R2H3;M0R2P8;M0R3A4;M0R3A8;Q9NWS0 AA018444;ABBA01032928;AC010619;AK000650;AK294687;AK304476;AMYH02036317;BC001108;CH471177;DC385084;NM_017916;XM_006723254;XR_243941;XR_430202;XR_430203 AAH01108;ACE87086;ADQ31733;BAA91307;BAG57848;BAG65289;EAW52486;EAW52487;NP_060386;Q9NWS0;XP_006723317 Hs.5245 2135959;2159014 A002I45;RH16140 FLJ20643;NOP17 PIH1 domain-containing protein 1;nucleolar protein 17 homolog protein-coding ENSG00000104872 HGNC:26075 07938 611480 VALIDATED 1353450 PIH1D3 PIH1 domain containing 3 ASSOCIATED WITH Melanoma (inferred) X X X q22.3 106921219 106958830 + 106449862 106487473 + 107206632 107244243 + 737633;8554872 12477932 12601173;15489334;15772651;24421334 139212 Q9NQM4 ABBA01035871;ABBA01035872;ABBA01035873;ABBA01035874;ABBA01035875;AI147427;AL136112;AMYH02040212;AY211928;BC033510;CH471120;NG_016377;NM_001169154;NM_173494 AAH33510;AAO65181;EAX02716;EAX02717;NP_001162625;NP_775765;Q9NQM4 Hs.128836 CXorf41;MGC35261;NYSAR97 OTTHUMP00000023803;OTTHUMP00000023804;PIH1 domain-containing protein 3;hypothetical protein LOC139212;sarcoma antigen NY-SAR-97;uncharacterized protein CXorf41 APPROVED protein-coding ENSG00000080572 HGNC:28570 06650 300933 VALIDATED 1343989 PIGX phosphatidylinositol glycan anchor biosynthesis, class X This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 3 3 3 q29 195019754 195043917 + 196439234 196462878 + 196712374 196736007 + 6480464;6907045 11102867;12477932;14702039;15146197;15489334;15635094;17207965;21906983;21963094;24250222;8889548 54965 A8MSL3;B4DFZ9;C9JF71;C9JFU3;C9JLT7;F8WEJ3;H0Y2P9;H7C081;H7C0F2;Q8TBF5 AA879458;ABBA01033752;ABBA01033753;AC055725;AK000529;AK294340;AMYH02008495;BC022542;BG715890;BQ130655;BU740645;CH471191;CN404010;NM_001166304;NM_017861 AAH22542;ADQ31691;BAA91233;BAG57610;EAW53637;EAW53638;EAW53640;NP_001159776;NP_060331;Q8TBF5 Hs.223296 1659108;1797112;5015621;5021872;5022651;5037552 D11S2921;D11S3732;D8S2279;FLJ20522;SHGC-77717;sY3084 FLJ20522;PIG-X GPI-mannosyltransferase subunit;OTTHUMP00000208200;OTTHUMP00000208250;OTTHUMP00000208256;phosphatidylinositol-glycan biosynthesis class X protein APPROVED protein-coding ENSG00000163964 HGNC:26046 07921 610276 REVIEWED 1317115 PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 ENCODES a protein that exhibits phosphatidylinositol 3-kinase regulatory subunit binding (ortholog); INVOLVED IN positive regulation of phosphatidylinositol 3-kinase signaling (ortholog); regulation of inflammatory response (ortholog); toll-like receptor 2 signaling pathway (ortholog); PARTICIPATES IN B cell receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (ortholog); membrane (ortholog); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cyclosporin A 10 10 10 q24.1 92095475 92222660 - 98353069 98480279 - 96593312 96720522 - 6480464;6907045;8554872 11076863;11163197;11230166;12477932;1251844;14702039;15489336;15893754;16381901;16385451;18654987;20197460;20467438;21706016;21890473;21988832;22558309;23382691;24124408 118788 Q6ZUJ8;Q86YV3 ABBA01021828;AI826732;AK092883;AK122584;AK125635;AL138765;AL358235;AL591364;AMYH02023592;AMYH02023593;AMYH02023594;AMYH02023595;BC029917;BX648550;CB990570;CH471066;JA885118;NM_152309;XM_005269498;XM_005269499 AAH29917;BAC03996;BAC56925;BAC86227;CAL37947;CCQ77684;EAW49968;EAW49969;NP_689522;Q6ZUJ8;XP_005269555;XP_005269556 Hs.310456 1334757;1338006;1751455;1761325;1857530;2117711;2117713;2122181;2140053;2155353;7188975;7188981 A005C16;D10S1736;D10S574;D20S208;G20268;RH15746;RH45653;SHGC-105285;SHGC-145337;UniSTS:50411 BCAP;RP11-34E5.3 1810044J04Rik;B cell adaptor protein;B-cell adapter for phosphoinositide 3-kinase;B-cell phosphoinositide 3-kinase adapter protein 1;OTTHUMP00000020175;OTTHUMP00000020176;phosphoinositide 3-kinase adapter protein 1 protein-coding ENSG00000155629 HGNC:30034 06401 607942 VALIDATED 1605009 PIH1D2 PIH1 domain containing 2 INTERACTS WITH methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chloroprene (ortholog) 11 11 11 q23.1 109087924 109098086 - 111934734 111944895 - 112064010 112074232 - 6480464 12477932;16712791;17207965;24056301;24722188;8889548 120379 H0YCC0;Q8WWB5 ABBA01039805;ABBA01039806;AI339257;AK300496;AMYH02025581;AMYH02025582;AMYH02025583;AP000907;BC019238;CA312666;CB159963;CH471065;KF455508;NM_001082619;NM_138789;XM_005271403 AAH19238;ADQ32663;BAG62210;EAW67177;NP_001076088;NP_620144;Q8WWB5;XP_005271460 Hs.420662 1674920;1715823;2142120 RH119608;RH48835;WI-14848 OTTHUMP00000234436;OTTHUMP00000234437;OTTHUMP00000234438;OTTHUMP00000234439;PIH1 domain-containing protein 2 protein-coding ENSG00000150773 HGNC:25210 14021 VALIDATED 1602097 PIGZ phosphatidylinositol glycan anchor biosynthesis, class Z The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008] 3 3 3 q29 195259832 195282326 - 196673214 196695742 - 196946343 196968871 - 6480464;6907045;8554872 11356840;12200473;12477932;12655644;14702039;15208306;15489334;16344560 80235 B4DL68;C9JQX2;H7C2E0;Q86VD9 ABBA01033761;AC011322;AK022830;AK296867;AMYH02008506;BC018804;BC044640;BG760692;BX493581;CH471191;DA736224;NM_025163;XM_006713758 AAH44640;BAB14263;BAG59430;EAW53618;NP_079439;Q86VD9;XP_006713821 Hs.518403 1657212 WI-16659 FLJ12768;GPI-MT-IV;MGC52163;PIG-Z;SMP3;hSMP3 GPI mannosyltransferase 4;GPI mannosyltransferase IV;OTTHUMP00000208160;OTTHUMP00000208161;OTTHUMP00000208162;SMP3 homolog;SMP3 mannosyltransferase;dol-P-Man dependent GPI mannosyltransferase;phosphatidylinositol glycan, class Z;phosphatidylinositol-glycan biosynthesis class Z protein APPROVED protein-coding ENSG00000119227 HGNC:30596 18076 611671 REVIEWED 735800 PIK3C2G phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 12 12 12 p12 23559670 23946872 + 18395912 18801352 + 18242978 18648418 + 1580863;6480464;6907045;8554872 10208934;10985305;11154208;11156964;11289809;11994280;12077252;12477932;12526811;12551992;12584329;12960231;14602571;15689238;16081599;16524887;17157319;17632570;17893707;17991425;18453587;18854243;18996102;20019835;20602615;20818790;21029719;21114830;22369086;23215766;23251686;23301033;24073214;24086445;8636073;8798481;9247029;9341793;9394803;9446795;9514948;9516481;9708406;9808187;9878262 5288 B7ZLY6;F5GWG6;F5H369;F5H7Y7;O75747 ABBA01067922;ABBA01067923;AC087236;AC087240;AC091815;AC092851;AI478164;AJ000008;AMYH02026123;AMYH02026124;AMYH02026125;BC130277;BC144133;BC144134;BX092808;CH471094;KF455618;NM_001288772;NM_001288774;NM_004570;XM_005253393;XM_006719088 AAI30278;AAI44135;CAA03853;EAW96387;NP_001275701;NP_001275703;NP_004561;O75747;XP_005253450;XP_006719151 Hs.22500 1663625;1666937;1699764;1716341;1724233;1726135;1752159;1775864;1782734;1847899;2133571 D12S1809;D12S2132;D2S2813;G62392;L29654;RH103488;RH121257;RH121621;SHGC-106077;SHGC-155945;WI-12697 MGC163149;PI3K-C2-gamma;PI3K-C2GAMMA OTTHUMP00000239607;PTDINS-3-kinase C2 gamma;phosphatidylinositol 3-kinase C2 domain-containing gamma;phosphatidylinositol 3-kinase, c2 domain containing, gamma polypeptide;phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma;phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing gamma polypeptide;phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit gamma;phosphoinositide 3-kinase-C2-gamma;phosphoinositide-3-kinase, class 2, gamma polypeptide;ptdIns-3-kinase C2 subunit gamma APPROVED protein-coding ENSG00000139144 HGNC:8973 16416 609001 REVIEWED 1626542 PIK3CD-AS1 PIK3CD antisense RNA 1 1 1 1 p36.22 8823694 8825670 - 9712668 9714644 - 9652610 9654586 - 12477932;14702039 644997 Q5SR53 ABBA01035565;AK097325;AL691449;AMYH02000253;BC016063;BC144613;CH471130;NG_023434;NR_027045 BAC04998;EAW71628;Q5SR53 Hs.568595 5016851 RH80031 APPROVED ncrna ENSG00000179840 HGNC:32346 VALIDATED 732496 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 3 3 3 q22.3 136799538 136904134 - 138371540 138553780 - 138652698 138834938 - 1580861;1580863;1300048;2290458;6480464;6484113;6907045;8554872 15834429;17641274 10208934;10358930;10570282;10949031;10985305;11154208;11156964;11289809;11459796;11676480;11752399;11916960;11994280;12029088;12077252;12167717;12477932;12502677;12502714;12507995;12526811;12529960;12551992;12584329;12660731;12960231;14530346;14602571;14968112;15242975;15328530;15468162;15489334;15582274;15664519;15689238;16081599;16091017;16339315;16380997;16432180;16524887;17157319;17522703;17632570;17676480;17977952;17986385;18285463;18327411;18372911;18398029;18453587;18558630;18755892;18854243;18996102;19097921;19380743;19380768;19700402;19815551;19913121;20019835;20041213;20056178;20058239;20103642;20107106;20331378;20508983;20602615;20628086;20691427;20702582;20818790;21029719;21030680;21123564;21321382;21362552;21383062;21487106;21706016;2174051;21765914;21900206;21906983;22528234;22701645;22939629;22984590;23051731;23077641;23211529;23215766;23251686;23301033;23318440;23434372;23568272;23604317;23734178;23956138;24073214;24114431;24223153;24284056;7479742;8139559;8246984;8636073;8798481;9247029;9341793;9394803;9446795;9708406;9808187;9822674 5291 B4DER4;C9J345;C9JNF6;C9JYX0;F8WDJ8;H0Y871;H7C527;H7C565;H7C5C3;P42338;Q68DL0 ABBA01059085;ABBA01059086;ABBA01059087;ABBA01059088;ABBA01059089;AC020890;AC067728;AC117389;AI623206;AJ297549;AK293754;AK302937;AMYH02007770;AMYH02007771;AMYH02007772;AMYH02007773;AMYH02007774;AX327653;BC003393;BC022049;BC033948;BC045790;BC114432;CH471052;CR749357;NM_001256045;NM_006219;S67334;XM_005247530;XM_005247531;XM_005247532;XM_006713659 AAB29081;AAH03393;AAH22049;AAI14433;BAG57175;BAG64095;CAC21449;CAD20430;CAH18210;EAW79053;EAW79054;EAW79055;EAW79056;NP_001242974;NP_006210;P42338;XP_005247587;XP_005247588;XP_005247589;XP_006713722 Hs.239818 1680421;1858110;2184331 RH12673;SHGC-63;WI-14619 DKFZp779K1237;MGC133043;P110BETA;PI3K;PI3KBETA;PIK3C1 OTTHUMP00000216901;OTTHUMP00000216904;PI3-kinase p110 subunit beta;PI3-kinase subunit beta;PI3K-beta;PtdIns-3-kinase p110;phosphatidylinositol 3-kinase, catalytic subunit, beta isoform;phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta;phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform;phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta isoform;phosphoinositide-3-kinase, catalytic, beta polypeptide;ptdIns-3-kinase subunit beta;ptdIns-3-kinase subunit p110-beta APPROVED protein-coding ENSG00000051382 HGNC:8976 04234 602925 VALIDATED 732994 PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3 ENCODES a protein that exhibits 1-phosphatidylinositol-3-kinase activity; INVOLVED IN early endosome to late endosome transport; phosphatidylinositol-3-phosphate biosynthetic process; PARTICIPATES IN autophagy pathway; inositol phosphate metabolic pathway; Mycobacterium tuberculosis infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN late endosome; membrane; midbody; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methyladenine; benzo[a]pyrene diol epoxide I 18 18 18 q12.3 36343751 36469999 + 39535165 39662272 + 41955234 42081484 + 1300048;4889529;6480464;6907045;8554872 20034776 10208934;10985305;11154208;11156964;11289809;11994280;12077252;12477932;12526811;12551992;12584329;12660731;12925680;12960231;14602571;14617358;14702039;14751759;15016378;15121481;15324660;15328530;15489334;15689238;16049009;16081599;16176982;16390869;16524887;16874027;17157319;17319803;17589504;17632570;18048384;18077426;18420347;18453587;18628207;18649358;18725540;18755982;18774718;18854243;18957027;18996102;19270696;19359265;19887755;19946888;20019835;20453000;20529838;20562859;20602615;20643123;20671926;20711182;20818790;20885446;20955765;21029719;21062745;21241894;21702994;21835792;21890473;21906983;21936852;22021616;22024166;22095288;22493499;22719072;23215766;23251661;23262492;23301033;23316280;23569248;23720494;23974797;24013218;24024966;24073214;24466196;24785657;24816145;24879156;24980959;24980960;7504174;7628435;8636073;8798481;8889548;8999962;9247029;9341793;9394803;9446795;9708406;9808187 5289 A8MYT4;K7EIV6;K7EKH3;K7ENH3;M0R308;M0R386;Q8NEB9 ABBA01022369;ABBA01022370;AC087683;AK022653;AK090567;AK298517;AK308364;AMYH02034608;AMYH02034609;BC010388;BC033004;BC053651;BI562123;CA945171;CH471088;KF495756;NM_002647;Z46973 AAH33004;AAH53651;ABM84638;ABM92169;BAG60721;CAA87094;EAX01426;NP_002638;Q8NEB9 Hs.464971 1659845;1675730;1675732;1681536;1751121;2144041;2185879;5015961;5022322 D11S2560;D15S1477;D18S1071;RH45288;RH66029;RH74915;RH91807;SHGC-105035;SHGC-35582 MGC61518;VPS34;hVps34 OTTHUMP00000163416;PI3-kinase type 3;PI3K type 3;PtdIns-3-kinase type 3;phosphatidylinositol 3-kinase;phosphatidylinositol 3-kinase catalytic subunit type 3;phosphatidylinositol 3-kinase p100 subunit;phosphoinositide-3-kinase, class 3 APPROVED protein-coding HGNC:8974 04009 602609 VALIDATED 9587552 PIK3CD-AS2 PIK3CD antisense RNA 2 1 1 9740903 9747627 - 9680845 9687569 - 101929074 ABBA01035565;AL691449;AMYH02000253;XR_244797;XR_248610;XR_250689 ncrna HGNC:51334 MODEL 9068660 PIK3IP1-AS1 PIK3IP1 antisense RNA 1 (head to head) 22 22 31722922 31734007 + 31327003 31338021 + 101929760 AA610085;ABBA01055327;AC005003;AMYH02038235;AW086071;HG512233;NR_110542;XR_244422;XR_244423;XR_249037;XR_249038;XR_254082;XR_425325;XR_430440;XR_433701;XR_433702 Hs.661718 ncrna HGNC:41072 VALIDATED 1605305 PIK3IP1 phosphoinositide-3-kinase interacting protein 1 ENCODES a protein that exhibits phosphatidylinositol 3-kinase catalytic subunit binding; INVOLVED IN negative regulation of phosphatidylinositol 3-kinase activity; negative regulation of phosphatidylinositol 3-kinase signaling; FOUND IN extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; calcitriol 22 22 22 q12.2 15478064 15489008 - 31677579 31688833 - 31281593 31292534 - 6480464 10591208;12477932;12529303;14702039;15340161;15461802;15489334;16303743;17475214;18632611;19088825;22706993;8889548 113791 C9JMK5;Q96FE7 ABBA01055327;AC002073;AF528079;AF528080;AK074688;AK093768;AK226089;AK299397;AK300990;AMYH02038234;AW005175;BC011049;BC041903;BE299406;BQ718653;BU681979;CH471095;CR456340;DC412134;GU135609;NM_001135911;NM_052880 AAB54054;AAH11049;AAH41903;AAO33762;AAO33763;ACZ26468;BAC11140;BAG61381;BAG62609;CAG30226;EAW59960;EAW59961;EAW59962;EAW59963;EAW59964;NP_001129383;NP_443112;Q96FE7 Hs.26670 1712300;2108257;2125160;2125575;2133619;2165312;2165314;2165793;5015619 A006I21;A008O47;D11S3114;G20845;G54059;HSC29H062;MGC17330__7680;RH47917;WI-14622 HGFL;MGC17330;hHGFL(S) OTTHUMP00000199499;OTTHUMP00000199500;OTTHUMP00000199501;kringle domain-containing protein HGFL;phosphoinositide-3-kinase-interacting protein 1 protein-coding ENSG00000100100 HGNC:24942 17518 VALIDATED 1321266 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008] 11 11 11 p15.5-p14 17236314 17320701 - 17108108 17229543 - 17086561 17207996 - 1580863;6480464;6907045;7243008;8554872 21127054 10208934;10329640;10641798;10766823;10805725;10985305;11154208;11156964;11239472;11289809;11306805;11606566;11994280;12077252;12237112;12477932;12526811;12551992;12584329;12719431;12960231;14563213;14602571;14729612;15183893;15689238;16081599;16215232;16524887;17038310;17110375;17148452;17157319;17371240;17620599;17632570;17644513;18403640;18453587;18854243;19056867;19261849;19591801;19615732;19946888;20019835;20197460;20379614;20416519;20453000;20467438;20562859;20818790;21029719;21081650;21139048;21890473;21906983;21926974;21963094;22128329;22505724;23000965;23192342;23215766;23251686;23301033;23320105;23443559;24073214;24255178;24280982;24639526;8636073;8798481;9247029;9337861;9341793;9394803;9446795;9603905;9708406;9808187 5286 E9PPP3;L7RRS0;O00443 A89694;ABBA01061068;ABBA01061069;AC107956;AC116533;AC126389;AK294416;AK299474;AK304262;AK309610;AK310248;AL049998;AL832699;AMYH02024378;BC031681;BC040952;BC113658;BX648778;CH471064;EU332862;JX512454;NM_002645;XM_005252977;XM_005252978;XM_005252979;XM_005252980;Y13367 AAI13659;ABY87551;ADR83442;AGC09601;BAG57666;BAG61438;BAG65126;CAA73797;CAB69383;EAW68447;NP_002636;O00443;XP_005253034;XP_005253035;XP_005253036;XP_005253037 Hs.175343 1679407;1697306;1697806;1750089;2143372;2181099 D11S4677;D11S4711;RH102150;RH102427;RH79759;SHGC-112334 CPK;DKFZp686L193;MGC142218;PI3-K-C2(ALPHA);PI3-K-C2A C2-containing phosphatidylinositol kinase;OTTHUMP00000231763;PI3K-C2-alpha;PI3K-C2alpha;phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha;phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit alpha;phosphoinositide 3-kinase-C2-alpha;phosphoinositide-3-kinase, class 2, alpha polypeptide;ptdIns-3-kinase C2 subunit alpha APPROVED protein-coding ENSG00000011405 HGNC:8971 04672 603601 VALIDATED 1315215 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008] 1 1 1 q32 177527172 177594672 - 204391756 204463943 - 204422628 204494815 - 1580863;6480464;6907045;8554872 10208934;10805725;10985305;11154208;11156964;11289809;11533253;11994280;12077252;12356726;12372612;12477932;12526811;12551992;12584329;12960231;14563213;14602571;15161933;15689238;15778465;16081599;16113997;16271833;16314532;16524887;16710414;16775008;17157319;17474147;17632570;18453587;18854243;18996102;19380743;19496756;19536175;19587117;19913121;20019835;20197460;20378550;20379614;20602615;20628086;20818790;21029719;21139048;21706016;21890473;21906983;21963094;21986133;22128329;22505724;22558309;22825724;23028960;23215766;23251686;23301033;23320105;23383273;23535732;23535733;24073214;8084603;8636073;8681137;8798481;9144573;9223670;9247029;9341793;9394803;9446795;9708406;9808187;9830063 5287 A2RUF7;F5GWN5;O00750;Q5SW97;Q5SW98;Q5SWA0 AB210006;ABBA01027443;ABBA01027444;ABBA01027445;ABBA01027446;AK308153;AL606489;AMYH02002535;AMYH02002536;BC094741;BC132876;BC136645;BC144342;CH471067;CR749201;EU332863;F17716;JX512455;NM_002646;XM_005245257;XM_005245258;XM_006711384;XR_241085;XR_241086;Y11312;Y13892 AAI32877;AAI36646;AAI44343;ABY87552;AGC09602;BAE06088;CAA72168;CAA74194;CAH18059;EAW91513;EAW91514;NP_002637;O00750;XP_005245314;XP_005245315;XP_006711447 Hs.497487 1662780;1846852;2141670;2176891;5015619;5037305;5037552 A006Z05;AL009631;D11S3114;D8S2279;PIK3C2B_7853;SHGC-76195;WI-11932 C2-PI3K;DKFZp686G16234 OTTHUMP00000034333;PI3K-C2-beta;PI3K-C2beta;PTDINS-3-kinase C2 beta;phosphatidylinositol 3-kinase C2 domain-containing beta polypeptide;phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta;phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit beta;phosphoinositide 3-kinase-C2-beta;phosphoinositide-3-kinase, class 2, beta polypeptide;ptdIns-3-kinase C2 subunit beta APPROVED protein-coding ENSG00000133056 HGNC:8972 04160 602838 REVIEWED 1345924 PIK3R1OS phosphoinositide-3-kinase, regulatory subunit 1, opposite strand q13.1 404543 L26969;L30106 Hs.132225 phosphoinositide-3-kinase, regulatory subunit, polypeptide 1, opposite strand protein-coding HGNC:31392 1322205 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010] 1 1 1 p36.2 8862699 8900443 + 9711789 9789172 + 9629889 9729114 + 1580863;2290458;6480464;6482696;6484113;6907045;8699517;7240710;8554872 17641274;18412166 10064595;10208934;10922060;10949031;10985305;11154208;11156964;11289809;11739523;11994280;12077252;12477932;12526811;12551992;12584329;12594293;12774123;12960231;14602571;15146197;15689238;15840695;15878979;16081599;16169070;16432180;16524887;16984281;17015696;17157319;17290298;17474147;17581634;17632516;17632570;18281552;18348712;18453587;18471882;18854243;18996102;19357769;19380743;19638627;19843950;19913121;20019835;20041213;20056178;20081091;20103642;20189103;20197460;20381852;20534549;20602615;20628086;20702582;20818790;20837746;21029719;21765914;21810603;21890473;21906983;22015454;22020336;22079609;22084313;22210877;22375552;22433439;22689948;22711705;22798525;23077641;23215766;23251686;23301033;23341541;23486085;23660190;24073214;24136356;24165795;24293274;24470496;24517182;24553178;8636073;8798481;8889549;9113989;9235916;9247029;9341793;9394803;9446795;9455486;9708406;9808187 5293 A7E2E0;B7ZM44;F5H807;O00329;Q5SR50 AB208835;ABBA01035565;ABBA01035566;ABBA01035567;AK303425;AK314191;AL691449;AL954705;AMYH02000253;AMYH02000254;BC030263;BC132919;BC132921;BC144264;BC150297;CH471130;CN313981;DQ263594;DQ263595;DQ263596;JN190435;NG_023434;NM_005026;U57843;U86453;W30913;XM_005263473;XM_006710686;XM_006710687;XM_006710688;XM_006710689;XM_006710690;Y10055 AAB53966;AAC25677;AAI32920;AAI32922;AAI44265;AAI50298;ABB83814;ABB83815;ABB83816;AEK81610;BAD92072;BAG36870;BAG64476;CAA71149;EAW71622;EAW71623;EAW71624;EAW71625;EAW71626;EAW71627;NP_005017;O00329;XP_005263530;XP_006710749;XP_006710750;XP_006710751;XP_006710752;XP_006710753 Hs.518451 1664765;1672123;1672125;1732958;1750677;1762535;1767855;2107507;2120973;2142598;2147876;2155124;2170324;2178392;5015861;7185938 A006Z42;D10S16;D1S1346;NIB2114;PIK3CD_7855;RH11792;RH50479;RH63840;SHGC-111989;SHGC-146345;SHGC-16182;SHGC-74173;SHGC-74191;WI-16255;WI-16324 APDS;IMD14;P110DELTA;PI3K;p110D OTTHUMP00000001595;OTTHUMP00000001596;PI3-kinase p110 subunit delta;PI3-kinase subunit delta;PI3K-delta;PI3Kdelta;phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta;phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform;phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta isoform;phosphoinositide-3-kinase C;phosphoinositide-3-kinase, catalytic, delta polypeptide variant p37delta;ptdIns-3-kinase subunit delta;ptdIns-3-kinase subunit p110-delta APPROVED protein-coding ENSG00000171608 HGNC:8977 602839;615513 REVIEWED 1353925 PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma) ENCODES a protein that exhibits 1-phosphatidylinositol-3-kinase activity (inferred); phosphatidylinositol 3-kinase regulator activity (inferred); INVOLVED IN insulin receptor signaling pathway (inferred); phosphatidylinositol biosynthetic process (inferred); phosphatidylinositol-3-phosphate biosynthetic process (inferred); PARTICIPATES IN epidermal growth factor/neuregulin signaling pathway; FasL mediated signaling pathway; phosphatidylinositol 3-kinase class I signaling pathway; FOUND IN cytosol (inferred); phosphatidylinositol 3-kinase complex (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP 1 1 1 p34.1 44793099 44886009 - 46505812 46642167 - 46040140 46133036 - 1580863;2290458;6480464;6484113;6907045 17641274 10417350;10949031;11172806;12470648;12477932;12588990;14702039;15001646;16189514;16273093;16751776;17360667;17452746;18029348;18624398;19060904;19380743;20197460;20379614;21706016;21900206;21988832;22722333;22876838;23135998;23503679;23509792;23904382;23939377;25036637;7542745;8619474;8647200;9178903;9415396;9524259 8503 F6TDL0;Q5T4P3;Q8N381;Q92569 ABBA01050845;ABBA01050846;ABBA01050847;AF028785;AK123886;AK302049;AK304713;AK313726;AL358075;AMYH02000948;AMYH02000949;AMYH02000950;AMYH02000951;AMYH02000952;BC005381;BC021622;BC094768;BX507484;BX537388;CH471059;CR749649;D88532;NM_001114172;NM_003629;U90907;XM_005271290;Y13809 AAC39696;AAH05381;AAH21622;ABM82715;ABM85897;ACE86933;ACE87620;BAA13636;BAG36468;BAG63440;BAG65477;CAB52195;CAD97630;CAH18443;EAX06943;EAX06944;EAX06945;EAX06946;EAX06947;NP_001107644;NP_003620;Q92569;XP_005271347 Hs.655387 1654701;1688771;1716931;1846690;1847844;2153339;2164836;5092808 A006G09;A008Z33;AL009584;G32343;RH121843;RH16484;RH93118;SHGC-74772 DKFZp686P05226;FLJ41892;p55;p55-GAMMA;p55PIK 100% homology to SWISS-PROT Q92569;OTTHUMP00000009783;OTTHUMP00000009784;OTTHUMP00000009786;PI3-kinase regulatory subunit gamma;PI3-kinase subunit p55-gamma;PI3K regulatory subunit gamma;phosphatidylinositol 3-kinase 55 kDa regulatory subunit gamma;phosphatidylinositol 3-kinase regulatory subunit gamma;phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 3 (p55, gamma);phosphoinositide-3-kinase, regulatory subunit 3 (p55, gamma);phosphoinositide-3-kinase, regulatory subunit, polypeptide 3 (p55, gamma);ptdIns-3-kinase regulatory subunit gamma;ptdIns-3-kinase regulatory subunit p55-gamma protein-coding ENSG00000117461 HGNC:8981 05831 606076 VALIDATED 68478 PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012] 19 19 19 q13.2-q13.4 18165735 18183085 + 18263988 18281343 + 18153178 18170533 + 1580863;2290458;6480464;6484113;6907045;8699517;7240710;8554872 17641274 10022833;10208934;10358157;10422873;10459020;10594015;10627473;10949031;10985305;11120660;11133830;11154208;11156964;11160222;11172806;11289809;11350939;11353842;11553620;11994280;12029088;12052866;12077252;12167717;12470648;12477932;12526811;12551992;12584329;12660731;12730242;12960231;1314371;1334406;14602571;15020686;15057824;15107835;15117958;15324660;15489334;15536084;15592455;15689238;15826941;15951569;16081599;16273093;16524887;16729043;16964398;17024187;17157319;17620599;17632570;17881440;18067320;18420583;18453587;18534979;18660489;18854243;19190244;19286672;19336760;19380743;19531499;19635806;19738201;19747165;19846673;19915146;20019835;20515662;20598684;20653952;20702582;20818790;20936779;21139048;21139197;21145461;21249429;21383062;21706016;2174051;21765914;21832049;21984976;21988832;22102226;22623428;22729224;22733740;22867989;23215766;23221569;23251686;23301033;23383273;23583404;23604317;23956138;24073214;24778252;25036637;7509360;7537096;7541045;7559478;7592789;7629144;7982920;8080844;8636073;8662998;8798481;9092574;9113989;9123823;9178760;9178903;9228082;9247029;9341793;9394803;9435577;9446795;9582025;9651378;9708406;9808187 5296 E9PFP1;O00459;V9GYJ4 ABBA01051248;ABBA01051249;AC007192;AMYH02035725;AMYH02035726;BC011917;BC014170;BC032647;BC070082;BC090249;CH471106;HY043384;NG_033010;NM_005027;NR_073517;X80907 AAD22671;AAH11917;AAH14170;AAH32647;AAH70082;AAH90249;CAA56868;EAW84659;EAW84660;NP_005018;O00459 Hs.371344 1678749;5491844 PIK3R2;RH26302 MPPH;MPPH1;P85B;p85;p85-BETA OTTHUMP00000198081;OTTHUMP00000198082;PI3-kinase regulatory subunit beta;PI3-kinase subunit p85-beta;PI3K regulatory subunit beta;phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta;phosphatidylinositol 3-kinase regulatory subunit beta;phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2;phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 (p85 beta);phosphoinositide-3-kinase, regulatory subunit 2 (p85 beta);phosphoinositide-3-kinase, regulatory subunit, polypeptide 2 (p85 beta);ptdIns-3-kinase regulatory subunit beta;ptdIns-3-kinase regulatory subunit p85-beta protein-coding ENSG00000105647 HGNC:8980 04404 603157;603387 REVIEWED 1315103 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma This gene encodes a protein that belongs to the pi3/pi4-kinase family of proteins. The gene product is an enzyme that phosphorylates phosphoinositides on the 3-hydroxyl group of the inositol ring. It is an important modulator of extracellular signals, including those elicited by E-cadherin-mediated cell-cell adhesion, which plays an important role in maintenance of the structural and functional integrity of epithelia. In addition to its role in promoting assembly of adherens junctions, the protein is thought to play a pivotal role in the regulation of cytotoxicity in NK cells. The gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013] 7 7 7 q22.3 101311222 101352879 + 106505723 106547592 + 106865278 106908978 + 1580863;1641794;1642432;1642429;1642433;1642394;6480464;6482697;6482683;6482688;6482689;6482694;6482696;6482686;6482708;6482687;6482682;6482684;6482678;6482702;6482700;6482698;6482699;6482677;6482681;6482695;6484113;6907045;8554872 14627686;15936620;16365454;16374167;17272402;17458647;17460301;17483449;17526805;18412166;18754810;20004201;20025958;20056919;20179753;20303183;20374644;20508212;21244371;21402770;21546487;21866628;21949398;22198681 10208934;10318860;10358071;10386953;10488142;10542052;10571082;10579793;10580505;10816567;10871282;10972292;10985305;11136978;11154208;11156964;11238738;11259422;11289809;11416136;11577104;11756194;11756422;11861293;11994280;12077252;12115604;12163475;12242282;12435806;12464013;12473596;12477932;12502714;12507995;12526811;12529294;12545160;12551992;12584329;12606772;12690205;12757856;12774123;12853948;12960231;13130092;14583609;14602571;14605879;14622970;15001544;15044087;15046613;15326564;15489334;15496972;15543611;15558024;15582274;15611065;15664519;15668028;15678501;15689238;15733066;15741161;15797027;15845472;15878979;15901830;15932879;15993382;16081599;16094730;16204373;16219695;16286246;16291747;16325767;16328013;16430866;16432180;16507111;16524887;16527821;16533525;16772787;16943418;17001038;17008323;17045571;17126402;17157319;17158252;17173040;17235455;17286201;17290298;17302605;17303701;17375124;17410437;17459875;17497700;17515959;17551921;17632570;17646933;17658464;17681345;17716861;17724079;17855501;17868340;17878755;17900864;17901375;17942603;17971428;17998459;18025271;18060476;18079201;18187452;18194602;18201823;18245521;18273051;18278175;18299320;18338817;18374639;18395956;18434090;18451027;18451140;18453587;18458059;18467332;18469852;18479604;18495460;18499442;18502332;18511807;18515365;18520805;18535744;18546844;18552129;18558630;18587247;18593948;18603327;18615538;18625725;18632611;18652687;18675921;18678286;18711316;18720410;18722093;18725974;18728784;18766172;18769058;18771702;18810319;18824170;18844239;18854243;18945831;18973553;18983267;18996102;19011679;19017490;19058789;19059380;19062713;19075988;19078992;19079138;19086053;19103290;19147653;19152965;19179443;19192227;19211028;19211763;19224914;19229860;19261616;19269083;19303157;19323811;19339247;19376709;19376889;19415692;19421146;19427038;19427341;19428048;19437103;19445727;19454653;19457236;19460752;19471547;19472218;19473116;19473971;19492075;19492417;19525225;19531027;19533041;19541408;19549714;19553005;19553815;19567200;19567590;19570915;19572978;19574958;19588500;19609946;19615732;19615795;19621391;19636556;19660434;19711039;19723646;19726747;19734303;19786618;19787273;19801192;19801633;19801684;19815050;19820697;19835871;19855431;19889638;19897009;19903888;19917135;19924283;19926313;19940129;19966853;20003467;20009532;20011604;20018188;20018937;20019835;20030877;20041213;20056178;20062086;20086095;20088406;20089415;20089844;20107185;20124452;20145951;20150971;20157617;20157769;20164468;20166697;20195717;20204404;20224967;20226014;20237496;20331378;20354121;20361045;20368287;20375364;20412587;20432929;20453000;20458733;20465946;20488790;20505158;20506537;20508983;20512574;20513426;20526338;20530239;20560677;20562859;20578837;20602615;20606682;20620179;20622047;20627085;20657188;20661648;20671123;20672329;20675006;20685403;20702582;20800603;20805333;20809254;20810749;20811632;20818790;20852826;20852838;20855526;20863633;20870746;20935218;21029719;21045158;21173233;21185806;21419339;21435395;21474070;21665146;21665152;21707707;21765914;21796621;21856935;21900206;21909108;21909110;21930962;22054284;22139419;22325219;22423221;22449554;22568210;22573891;22825625;23077641;23107319;23215766;23251686;23301033;23320105;23354687;23439433;23500535;24026423;24073214;24190998;24425731;24816145;7520444;7606002;7624799;7721825;8313897;8636073;8798481;9113989;9247029;9341793;9394803;9446654;9446795;9507010;9708406;9747873;9808187;9915850 5294 A8K9G9;E9PDN7;P48736 AA810265;ABBA01057917;ABBA01057918;AC005018;AF327656;AK292684;AK313753;AMYH02016502;AY496423;BC035683;BX648341;CH236947;CH471070;NM_001282426;NM_001282427;NM_002649;X83368;XM_005250443;XM_006716027 AAG61115;AAH35683;AAQ96873;AAS75801;BAF85373;CAA58284;EAL24396;EAW83387;EAW83388;EAW83389;NP_001269355;NP_001269356;NP_002640;P48736;XP_005250500;XP_006716090 Hs.32942;Hs.561747 1650720;1655190;1707818;2139080;2217748 G36360;PIK3CG_4032;SHGC-35564;SHGC-82136;STS-X83368 PI3CG;PI3K;PI3K-gamma;PI3Kgamma;PIK3;p110-gamma;p110gamma;p120-PI3K 1-phosphatidylinositol 3-kinase;OTTHUMP00000212313;OTTHUMP00000212314;OTTHUMP00000212315;PI3-kinase subunit gamma;phosphatidylinositol 3 kinase gamma, p110 gamma;phosphatidylinositol 3-kinase catalytic 110-kD gamma;phosphatidylinositol 3-kinase, catalytic, gamma polypeptide;phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma;phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform;phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma isoform;phosphoinositide-3-kinase catalytic gamma polypeptide;phosphoinositide-3-kinase gamma catalytic subunit;phosphoinositide-3-kinase, catalytic, gamma polypeptide;ptdIns-3-kinase subunit gamma;ptdIns-3-kinase subunit p110-gamma;serine/threonine protein kinase PIK3CG APPROVED protein-coding ENSG00000105851 HGNC:8978 03135 601232 REVIEWED 1353016 PIK3R6 phosphoinositide-3-kinase, regulatory subunit 6 Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 17 17 17 p13.1 8736925 8802828 - 8706055 8770994 - 8802737 8867677 - 6480464;6484113;8554872 12477932;12507995;14702039;15797027;16344560;16476736;18323525;18596232;21996737;22728827;24014027;7624799 146850 B3KRK9;Q5UE93 ABBA01054925;ABBA01054926;ABBA01054927;ABBA01054928;ABBA01054929;ABBA01054930;ABBA01054931;AC003695;AC009451;AK091819;AL833037;AMYH02032934;AMYH02032935;AY753192;BC110301;BC125169;CH471108;DA585264;DB326284;KF573668;NG_033091;NM_001010855;NM_001290211;NR_110865 AAI25170;AAI66645;AAV30085;BAG52421;CAH56340;EAW90038;EAW90039;EAW90040;EAW90041;NP_001010855;NP_001277140;Q5UE93 Hs.255809 C17orf38;DKFZp666P158;FLJ34500;HsT41028;p84;p84 PIKAP;p87(PIKAP);p87PIKAP PI3Kgamma adapter protein of 87 kDa;chromosome 17 open reading frame 38;p84 PI3K adapter protein;p87 PI3K adapter protein;p87 phosphoinositide 3-kinase gamma (PI3Kg) adapter protein;phosphoinositide 3-kinase gamma adapter protein of 87 kDa;phosphoinositide 3-kinase regulatory subunit 6 APPROVED protein-coding ENSG00000276231 HGNC:27101 12682 611462 REVIEWED 1323457 PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN innate immune response (inferred); insulin receptor signaling pathway (inferred); phosphatidylinositol biosynthetic process (inferred); PARTICIPATES IN autophagy pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN late endosome; membrane; axoneme (ortholog); INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 3 3 3 q22.1 128823051 128890972 - 130397778 130465696 - 130678934 130746852 - 1580863;4889529;6480464;6907045;8554872 20034776 12388762;12477932;12660731;12686597;12925680;14617358;14751759;15324660;15342556;15489334;18957027;19270696;19608861;19946888;20562859;20643123;20711182;21139048;21890473;21906983;21963094;22505724;23262492;24816145;8999962 30849 D6RAC3;D6RBB7;D6RJ98;Q99570 ABBA01059200;AC097105;AC128683;AK314219;AMYH02007661;BC009899;BC017332;BC057239;BC069191;BC110318;BC127105;BC127106;BP359657;CH471052;FB775516;NM_014602;Y08991 AAI10319;AAI27106;AAI27107;BAG36893;CAA70176;CAV30715;EAW79222;NP_055417;Q99570 Hs.149032 1684900 RH80268 MGC102700;VPS15;p150 OTTHUMP00000216091;PI3-kinase p150 subunit;PI3-kinase regulatory subunit 4;phosphatidylinositol 3-kinase-associated p150;phosphoinositide 3-kinase adaptor protein;phosphoinositide 3-kinase regulatory subunit 4;phosphoinositide-3-kinase, regulatory subunit 4, p150 protein-coding ENSG00000196455 HGNC:8982 04010 602610 VALIDATED 1346928 PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011] 17 17 17 p13.1 8814067 8900857 - 8782233 8869029 - 8878916 8965712 - 737633;1580863;6480464;6484113;6907045;8699517;8554872;7240710 12477932 10358071;10488142;12507995;15489334;15611065;15797027;17486067;18624398;18794883;19453261;20056178;20379614;20582532;21832049;21890473;22065524;24014027;7624799 23533 J3KRE9;J3KSW1;J3KT66;L7RT34;Q8WYR1;X6R3K3 AB028925;ABBA01054931;ABBA01054932;ABBA01054933;AC002091;AC003695;AF128881;AK129627;AK309074;AK314186;AMYH02032935;AMYH02032936;AY725851;AY725852;AY725853;AY725854;BC028212;CH471108;EU332864;JX512456;NG_030374;NM_001142633;NM_001251851;NM_001251852;NM_001251853;NM_001251855;NM_014308;XM_005256579;XM_005256580 AAD33397;AAH28212;AAW63121;AAW63122;AAW63123;AAW63124;ABY87553;AGC09603;BAB82464;EAW90035;EAW90036;EAW90037;NP_001136105;NP_001238780;NP_001238781;NP_001238782;NP_001238784;NP_055123;Q8WYR1;XP_005256636;XP_005256637 Hs.278901;Hs.738684 1339147;1339427;1757249;2109613;2131143;2138246;2147417;2170268;7187846 AFMB322YG5;D17S1858;D17S755;D17S786;P101-PI3K__7041;RH16346;SGC34915;SHGC-144670 F730038I15Rik;FLJ26116;FOAP-2;P101-PI3K;p101 OTTHUMP00000135339;PI3-kinase p101 subunit;PI3-kinase regulatory subunit 5;phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit;phosphatidylinositol-4,5-bisphosphate 3-kinase regulatory subunit;phosphoinositide 3-kinase regulatory subunit 5;phosphoinositide-3-kinase, regulatory subunit 5, p101;phosphoinositide-3-kinase, regulatory subunit, polypeptide p101;ptdIns-3-kinase p101;ptdIns-3-kinase regulatory subunit APPROVED protein-coding ENSG00000141506 HGNC:30035 11433 611317;615217 REVIEWED 1352691 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. [provided by RefSeq, Jul 2008] 3 3 3 q26.3 177295797 177383366 + 178866311 178952500 + 179148114 179235137 + 1580863;2313763;2290458;2290476;4143515;5133243;5133242;5685670;5685669;6480464;6484113;6907045;7240710;8554872;8693397;8699517 16847462;17575153;17641274;18955974;19078924;20622004;20951313;21277552;23759327 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4;22640628;22648906;22649008;22658544;22662165;22675430;22675553;22683270;22689060;22704443;22705003;22705004;22723903;22729222;22729223;22729224;22736407;22737248;22744290;22768164;22768179;22779686;22782554;22798500;22807617;22840496;22842715;22851869;22863784;22870241;22875023;22880054;22897848;22897902;22905202;22912864;22923510;22928013;22931052;22936809;22938585;22940133;22949056;22949682;22955107;22964641;22982396;22988297;22994622;22994717;22997091;22998445;23013731;23021375;23028762;23051731;23066026;23066039;23071680;23077641;23082158;23085752;23092874;23094721;23100325;23107319;23110163;23115297;23125007;23136191;23136247;23172887;23182717;23184205;23185308;23192871;23215766;23219661;23224067;23233531;23237847;23243017;23246288;23248156;23251686;23261389;23266353;23271282;23275335;23292187;23300780;23301033;23301057;23314198;23318440;23335533;23341541;23345407;23352210;23374602;23383294;23386617;23392229;23401445;23409016;23417417;23418602;23429328;23435830;23453624;23475955;23523798;23532889;23538402;23546602;23548132;23549875;23563091;23564819;23568272;23580570;23583669;23588386;23592373;23597702;23604317;23612454;23615713;23624506;23625205;23626817;23633456;23640046;23643389;23660947;23680019;23684925;23695676;23702729;23708425;23709421;23721513;23725225;23728071;23728594;23734265;23739063;23743572;23785428;23787421;23800951;23812937;23813545;23832540;23851329;23867512;23867821;23884447;23886157;23887305;23888070;23891538;23891627;23903756;23936502;23946963;23981382;23982433;23990352;23996432;24001613;24006859;24011769;24011934;24051437;24062397;24069951;24073214;24077110;24099783;24117074;24122451;24193002;24218517;24229379;24231454;24233241;24241346;24244431;24249715;24262879;24263107;24299208;24314632;24320611;24323026;24323028;24328409;24341335;24347489;24360885;24364210;24374682;24425104;24428908;24440701;24440976;24450638;24453288;24468202;24471188;24505629;24507683;24511546;24619078;24630930;24687028;24713430;24735980;24762137;24766330;24769208;24784415;24806753;24887566;24909280;25002028;25027743;7713498;7820549;7929193;8020561;8246987;8636073;8665852;8702949;8798481;9043658;9113989;9119889;9150145;9247029;9341793;9394803;9415396;9446795;9708406;9808187;9915850;9916799 5290 C9J951;C9JAM9;P42336 AB210020;ABBA01058543;ABBA01058544;ABBA01058545;ABBA01058546;AC076966;AK292940;AK297203;AK302608;AMYH02008222;AU129890;AW445128;BC113601;BC113603;BQ228953;BX437219;BX473473;BX484734;CH471052;DQ910907;GM752103;GM865566;HM437241;JC006870;NG_012113;NM_006218;U79143;XM_006713658;Z29090 AAB39753;AAI13602;AAI13604;ABI95433;ADN43072;BAE06102;BAF85629;BAG59688;BAG63856;CAA82333;CAT16714;CAV28702;CDL93485;EAW78423;NP_006209;P42336;XP_006713721 Hs.553498;Hs.715194 1745267;1852798;2145523;2217746;5117695 GDB:596369;GDB:596374;PIK3CA_4031;RH70978;SHGC-12912 CWS5;MCAP;MCM;MCMTC;MGC142161;MGC142163;PI3K;PI3K-alpha;PI3Kalpha;p110-alpha;p110alpha CLOVE;OTTHUMP00000211945;PI3-kinase p110 subunit alpha;PI3-kinase subunit alpha;PtdIns-3-kinase p110;phosphatidylinositol 3-kinase, catalytic, 110-KD, alpha;phosphatidylinositol 3-kinase, catalytic, alpha polypeptide;phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha;phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform;phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit, alpha isoform;phosphoinositide-3-kinase catalytic alpha polypeptide;phosphoinositide-3-kinase, catalytic, alpha polypeptide;ptdIns-3-kinase subunit alpha;ptdIns-3-kinase subunit p110-alpha;serine/threonine protein kinase PIK3CA APPROVED protein-coding HGNC:8975 01382 114480;114500;114550;137215;162900;167000;171834;182000;211980;602501;603387;612918;613659;615108 REVIEWED 1347613 PIM2 Pim-2 proto-oncogene, serine/threonine kinase This gene encodes a protooncogene that acts as a serine/threonine protein kinase. Studies determined the encoded protein functions to prevent apoptosis and to promote cell survival.[provided by RefSeq, Nov 2009] X X X p11.23 52887115 52893070 + 48770459 48776413 - 48913182 48919136 - 1580863;6480464;6907045;8554872 11854514;12477932;12954615;15199164;15291354;15489334;15548703;15721354;16015593;16169070;16189514;16403219;16548883;16713569;18029348;18216297;18424697;18593906;18675992;19821157;19841674;20098747;20465571;20592892;20596523;20939820;21299464;21475253;21859846;21900206;21906983;22506047;22939624;23209281;23749639;23752607;23760264;23813671;23818547;23898208;24142698;24505470;9804974 11040 C9J8V9;Q9P1W9 AB042425;ABBA01046081;AC233300;AF207550;AK290931;AK312745;AMYH02039311;AMYH02039312;BC018111;CH471224;CQ834174;CQ834176;DC378253;HI179046;NG_016262;NM_006875;U77735 AAC78506;AAH18111;ABM82262;ABM85444;BAA95613;BAF83620;CAH05302;CAH05303;CBX53832;EAW50729;EAW50730;NP_006866;Q9P1W9 Hs.727148 1648967;1660281;1796512 PIM2_378;RH78860;STS-H88980 pim-2h OTTHUMP00000025825;pim-2 oncogene;proto-oncogene Pim-2 (serine threonine kinase);serine/threonine protein kinase pim-2;serine/threonine-protein kinase pim-2 APPROVED protein-coding ENSG00000102096 HGNC:8987 02244 300295 REVIEWED 737516 PIM1 Pim-1 proto-oncogene, serine/threonine kinase The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011] 6 6 6 p21.2 38693003 38698282 + 37137922 37143204 + 37170146 37175428 + 1580863;6480464;6484113;6907045 10373478;10664448;10931201;11237709;11279102;11368509;11460166;11518967;11591366;11823475;12036885;12111331;12411508;12431783;12477932;12680209;13679438;1427894;14981536;15264249;15319445;15471855;15489334;15525646;15528381;15657054;15721354;15798097;15808862;16169070;16186805;16221667;16227208;16266891;16344560;16356754;16403219;16508102;16647097;16684349;16712793;17297438;17313559;17327400;17448597;17476282;17487358;17560648;17643117;17855660;18037896;18056989;18216297;1825810;18426646;18426800;18467333;18519946;18593906;18596907;18676680;18695914;18708761;18768389;18775810;19003546;19152965;19166854;19170196;19266083;19322201;19336552;19345670;19568408;19573080;19625176;19688129;19692168;19734423;19773279;19878356;19911008;20032391;20075333;20191609;20203306;20215828;20237496;20460432;20544717;20587610;20633028;20639905;20663873;20811681;20939820;20958956;21062737;21139048;21143989;21187157;21262926;21382889;21474815;21680901;21734463;21743487;21832049;21859846;21860423;21890473;21906983;21910584;21963094;21974958;21993851;2205533;22193779;22261337;22273698;22282239;22441844;22451912;22574367;22584579;22619278;22689995;22700982;22720752;22840454;22986532;23010478;23119061;23129228;23131564;23142699;23202547;23209281;23360763;23565217;23748345;23749639;23755147;23814490;23898208;23936194;23974202;23990052;24040307;24044948;24116137;24155393;2682662;2837645;3329709;3429489;3475233;9809063 5292 P11309 ABBA01038277;AF386792;AK301158;AK301314;AK309347;AL353579;AMYH02013564;BC020224;CH471081;DA434260;DA481890;DA489942;DQ022562;M16750;M24779;M27903;M54915;NG_029601;NM_001243186;NM_002648 AAA36447;AAA60089;AAA60090;AAA81553;AAH20224;AAK70871;AAY87461;BAG62748;BAG62865;EAX03934;EAX03935;NP_001230115;NP_002639;P11309 Hs.81170 1650087;1669116;2122647;2137470;2159566;2191103;2218714;5494069 D6S1832;D6S2043;G10642;MARC_14741-14742:1010683927:1;PIM1;RH46728;RH69112;UniSTS:463218 PIM OTTHUMP00000018046;Oncogene PIM1;pim-1 kinase 44 kDa isoform;pim-1 oncogene (proviral integration site 1);proto-oncogene serine/threonine-protein kinase pim-1;proviral integration site 1;serine/threonine-protein kinase pim-1 APPROVED protein-coding ENSG00000137193 HGNC:8986 01292 164960 REVIEWED 1318381 PILRA paired immunoglobin-like type 2 receptor alpha Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 94700868 94727521 + 99971068 99997722 + 100367535 100400099 + 6480464;8554872 10660620;10903717;12477932;12690205;15085135;15489334;18097101;18358807;19244335;19457990;21241660;21988832;22396535;22695228;23302878;24253495;24843130;24889612 29992 C9JGG1;C9JJ79;Q9UKJ1 ABBA01013217;ABBA01013218;AC005071;AF161080;AJ400841;AJ400842;AJ400843;AK298731;AMYH02016378;AMYH02016379;BC017812;BF432841;CH236956;CH471091;NG_029837;NM_013439;NM_178272;NM_178273;XM_006715954;XM_006715955 AAD52964;AAH17812;BAG60881;CAC01613;CAC01614;CAC01615;EAL23835;EAL23836;EAL23837;EAW76542;EAW76543;EAW76544;EAW76545;NP_038467;NP_840056;NP_840057;Q9UKJ1;XP_006716017;XP_006716018 Hs.444407 1681408;2109651;2135274;2159394 G31544;PILRA_9623;RH36143;RH93969 FDF03 OTTHUMP00000207541;OTTHUMP00000207542;OTTHUMP00000207543;OTTHUMP00000207544;cell surface receptor FDF03;inhibitory receptor PILR-alpha;inhibitory receptor PILRalpha;paired immunoglobin-like receptor alpha;paired immunoglobulin-like receptor alpha;paired immunoglobulin-like type 2 receptor alpha APPROVED protein-coding ENSG00000085514 HGNC:20396 05631 605341 REVIEWED 1344275 PIM3 Pim-3 proto-oncogene, serine/threonine kinase The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012] 22 22 22 q13 34275438 34279529 + 50354143 50357720 + 49960495 49964072 + 737633;1580863;6480464 12477932 10713710;12798037;15199164;15489334;15540201;16403219;17270021;18593906;19154409;19266083;19624871;20101231;20939820;21187426;21297633;21646687;21668797;21870113;21906983;21963094;22053931;22282239;22939624;23209281;23760491;23845873;24165482;24488669 415116 Q6P2J9;Q86V86 AB114795;ABBA01031317;ABBA01031318;AK292005;AMYH02038592;BC017083;BC052239;BC064477;BC141855;BX539320;CH471138;CR536608;CT000425;DB482257;NM_001001852 AAH64477;AAI40031;AAI41856;BAD42438;BAF84694;EAW73485;NP_001001852;Q86V86 Hs.530381 1773745;2124560 RH78485;WI-11798 pim-3 OTTHUMP00000196970;pim-3 oncogene;serine/threonine kinase Pim-3;serine/threonine-protein kinase pim-3 APPROVED protein-coding ENSG00000198355 HGNC:19310 15137 610580 VALIDATED 1313818 PIKFYVE phosphoinositide kinase, FYVE finger containing Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] 2 2 2 q34 202898915 202991410 + 209130990 209223475 + 208266267 208358751 + 6480464;6907045;7240710;8554872;8699517 10231032;11706043;11714711;12270933;12477932;12607114;14530284;14551253;14702039;15046600;15144186;15542851;15592455;15902656;16147992;16448788;16801682;16954148;17081983;17146146;17207965;17556371;17570343;17909029;18304842;18429927;18501703;18774718;18950639;19037259;19056739;19232516;19582903;19840946;19841139;19852935;19910676;20041238;20193073;20379614;20467438;20945365;21832049;22065932;22118674;22621786;23154468;23178941;23188060;23297396;23757022;23994136;24250222;24600036;24816145;24840251 200576 C9JL08;E9PDH4;F8WEZ0;Q9Y2I7 AB023198;ABBA01062708;ABBA01062709;ABBA01062710;ABBA01062711;AC012362;AC016697;AK091482;AK127769;AL122124;AMYH02005661;AMYH02005662;AY457063;BC017736;BC032389;BC035705;BC125052;BC125053;BG287802;BX640810;CH471063;EU794609;NG_021188;NM_001178000;NM_015040;NM_152671;XM_006712361;XM_006712362;XM_006712363 AAH32389;AAI25053;AAI25054;AAI56452;AAI72527;AAR19397;AAX93222;AAY14870;ACJ13663;ADQ31819;BAA76825;BAC03674;BAC87123;EAW70444;EAW70445;EAW70446;EAW70447;EAW70448;EAW70449;NP_001171471;NP_055855;NP_689884;Q9Y2I7;XP_006712424;XP_006712425;XP_006712426 Hs.744997 1298231;1340465;1713545;1719537;1744087;2122359;2141551;2142324;7186284 A005D48;D2S1317;D2S2289;D2S325;GDB:386618;RH120259;RH123501;RH16641 CFD;FAB1;FLJ37746;HEL37;KIAA0981;MGC40423;PIP5K;PIP5K3;ZFYVE29 1-phosphatidylinositol 3-phosphate 5-kinase;1-phosphatidylinositol-3-phosphate 5-kinase;OTTHUMP00000163872;OTTHUMP00000198099;OTTHUMP00000198101;OTTHUMP00000198102;PIPkin-III;epididymis luminal protein 37;phosphatidylinositol 3-phosphate 5-kinase;phosphatidylinositol 3-phosphate 5-kinase type III;phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III;type III PIP kinase;zinc finger, FYVE domain containing 29 APPROVED protein-coding ENSG00000115020 HGNC:23785 17852 121850;609414 REVIEWED 1347401 PIN1L2 protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1-like 2 5109 HGNC:8990 1348368 PIN3 protein, NIMA-interacting 3 8606777 5302 HGNC:8991 1354255 PIN1P1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 pseudogene 1 INTERACTS WITH copper(2+) sulfate; (S)-nicotine (ortholog); 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (ortholog) 1 1 1 p31 68674976 68675971 + 70385005 70386000 + 69919322 69920317 + 6480464 16710414;9299231 5301 O15428 ABBA01074491;AK314840;AL391728;AMYH02001236;NR_023916;U82382 AAB81333;BAG37358 Hs.654711 1700942;2109653 PIN1L__6997;RH104098 PIN1L protein (peptidyl-prolyl cis/trans isomerase) nima-interacting 1-like APPROVED pseudo HGNC:8989 03630 602051 VALIDATED 1345088 PIN4 protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) This gene encodes a member of the parvulin subfamily of the peptidyl-prolyl cis/trans isomerase protein family. The encoded protein catalyzes the isomerization of peptidylprolyl bonds, and may play a role in the cell cycle, chromatin remodeling, and/or ribosome biogenesis. The encoded protein may play an additional role in the mitochondria. [provided by RefSeq, Dec 2009] X X X q13 71749520 71827026 + 71401526 71483814 + 72181676 72263964 + 1580863;6480464 10100858;10364457;10966801;11162102;11337467;11960984;12144781;12477932;12860119;15489334;16169070;16522211;17875217;19369196;20029029;21139048;22939629;23720771;24250222;24816145 5303 D6RFY5;H0Y4T6;H0Y610;H0Y8P6;J3KMW3;Q9Y237 AB009690;ABBA01046195;ABBA01046196;ABBA01046197;ABBA01046198;ABBA01046199;ABBA01046200;ABBA01046201;ABBA01046202;ABBA01046203;ABBA01046204;ABBA01046205;ABBA01046206;ABBA01046207;ABBA01046208;ABBA01046209;ABBA01046210;AF143096;AK127605;AL135749;AMYH02039699;AMYH02039700;AMYH02039701;AMYH02039702;AU098526;AV709926;BC005234;BC070288;BC093700;BC104653;BC111394;BC112281;BE504461;BU952002;BX119917;CH471213;NG_016328;NM_001170747;NM_006223;NR_033187 AAD27893;AAH05234;AAH70288;AAH93700;AAI04654;AAI11395;AAI12282;ADR83479;BAA82320;BAG54532;EAW71812;NP_001164218;NP_006214;Q9Y237 Hs.655623 1647380;1664760;1677180;1679792;1681833;1721135;1773229;1796514;1856829;1934350;2178421;5037552 AF020151;AF020179;D8S2279;DXS6732;DXS7706;G59402;PIN4_1037;REN38008;RH80498;RH93163;RH98807;SGC38245 EPVH;MGC138486;PAR14;PAR17;hEPVH;hPar14;hPar17 OTTHUMP00000023526;OTTHUMP00000023527;OTTHUMP00000217483;OTTHUMP00000217485;PPIase PIN4;eukaryotic parvulin homolog;parvulin-14;parvulin-17;peptidyl-prolyl cis-trans isomerase NIMA-interacting 4;peptidyl-prolyl cis-trans isomerase Pin4;peptidyl-prolyl cis/trans isomerase EPVH;protein (peptidyl-prolyl cis/trans isomerase) nima-interacting, 4 (parvulin);rotamase PIN4 APPROVED protein-coding ENSG00000102309 HGNC:8992 02219 300252 REVIEWED 6770277 PIN4P1 protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 pseudogene 1 15 15 15 q15.3 21057462 21059827 - 44168004 44170369 - 43875806 43878171 - 11181995;14702039 728758 ABBA01039220;AC023356;AK055299;AMYH02030327;CH471082;NR_003571 EAW77256 Hs.658099 1815040;1819036;1824604;1825236;1825316;1934346;1934348;1934350;1934352;1934354;1934356;1934358;1934360;1934362;1934364;1934366;1934368;1934370;1934372;1934374;1934376;1934378;1934380;1934382;1934384;2209178;2209180;2209182;2209184 ECD08552;ECD10584;ECD13400;ECD13719;ECD13764;REN38006;REN38007;REN38008;REN38009;REN38010;REN38011;REN38012;REN38013;REN38014;REN38015;REN38016;REN38017;REN38018;REN38019;REN38020;REN38021;REN38022;REN38023;REN38024;REN38025;stSG628011;stSG628012;stSG628013;stSG628014 pseudo HGNC:44193 PROVISIONAL 731958 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] 5 5 5 q13.1 64520829 64597175 + 67511584 67597649 + 68215756 68301821 + 1625212;1625220;1625262;1625218;737788;1625215;1625216;737789;1625211;1299201;2301729;2290476;1642762;2299174;2290458;4108483;4108492;4108481;4108490;4108507;2307338;4108502;2317988;6480464;6484113;6907045;8699517;8554872;7240710 10426374;11826414;11850627;12185156;12891559;14685170;16123202;16332940;16829981;16847462;17167084;17283057;17641274;17699716;18175071;18300869;18336616;18430054;18443201;19015400;19100383;9399964;9988280 10022120;10022833;10025673;10068651;10086340;10097090;10187839;10208934;10212255;10339567;10358153;10358157;10358777;10358930;10373529;10377409;10383151;10422873;10426994;10437794;10455176;10459020;10467411;10477752;10487518;10500481;10521483;10527852;10542297;10572067;10579793;10620516;10627473;10648629;10652352;10697503;10723796;10768093;10797305;10799562;10806474;10871282;10899172;10918571;10921882;10962563;10967104;10970851;10985305;10995743;11029009;11030146;11042121;11071635;11071869;11087752;11094073;11133830;11136977;11154208;11156964;11157475;11160222;11163197;11278378;11287610;11289809;11313349;11334882;11337495;11341978;11368773;11375989;11418612;11431473;11445578;11526404;11546794;11567151;11604231;11606067;11689445;11689561;11689886;11711534;11716761;11739737;11741599;11782427;11812000;11842213;11850823;11855827;11865050;11912194;11940581;11944898;11986952;11994280;11994282;12009866;12029088;12052866;12074588;12077252;12086876;12107746;12112020;12167717;12173038;12186904;12210743;12220227;12359715;12393736;12397383;12454018;12470648;12477932;12526811;12529960;12538575;12538664;12551992;12582030;12584329;12588990;12594831;12621049;12637493;12644569;12660731;12668683;12704201;12714585;12730242;12734410;12774123;12783867;12878163;12933816;12960231;1314371;1336372;1351056;1372092;1381348;1383690;14511371;14530346;14551916;14597629;14602571;14699157;14702039;14729945;14769856;14965316;14968112;15007072;15016818;15107835;15117958;15127203;15192701;15324660;15351743;15377662;15388330;15476827;15488758;15489334;15490304;15502848;15514089;15536084;15556646;15629149;15638726;15644415;15689238;15735664;15741161;15809724;15826941;15872086;15910625;15932879;15951569;16007092;16043515;16081599;16135792;16168140;16219545;16228294;16230374;16273093;16289966;16306077;16344560;16354680;16377635;16412560;1648445;16491394;16524887;16638574;16644730;16717100;16787925;16843263;16844778;16917505;16921024;16964398;16982329;17006756;17013094;17016694;17038539;17157319;17207965;17214991;17237826;17242350;17242406;17302605;17404186;17437541;17442886;17452978;17474147;17486587;17570359;17626883;17632516;17632570;17827393;17890432;18029348;18079394;18227218;18245521;18249389;18328427;18335044;18372911;18374639;18387942;18418043;18453587;1849461;18534979;18606683;18624398;18660489;18711014;18854243;18974049;18990689;18996102;19190244;19218574;19286672;19304514;19336760;19351817;19380743;19454690;19482007;19531499;19561084;19578796;19634059;19635806;19639178;19640849;19747165;19807924;19861161;19885597;19903481;19903888;19913121;19946888;19962665;20018188;20019835;20056178;20086096;20212113;20237496;20379614;20407443;20457601;20501401;20530665;20598684;20602615;20628086;20702582;20713702;20714879;20800603;20818790;20846792;20936779;21029719;21057544;21077741;21113646;21139048;21145461;21200133;21203488;21241768;21362552;21430300;21478295;21487925;21533174;21701776;21706016;2174051;21743495;21765914;21984976;21988832;22027828;22064833;22120714;22271581;22355357;22558309;22684007;22728334;22745667;22752602;22939629;22974441;23166678;23215766;23221569;23251686;23275563;23301033;23419831;23439647;23562842;23569237;23583404;23599027;23603894;23604317;23810378;23810379;23810382;23980150;24004856;24073214;24113870;24223153;24229379;24244431;24316008;24657164;24830046;24886349;25036637;7504174;7509796;7513258;7522165;7528218;7537265;7537275;7537361;7537362;7537849;7541045;7559499;7592789;7629060;7642542;7642581;7657594;7662955;7681364;7689147;7689724;7737275;7737969;7759531;7782332;7791764;7807015;7876130;7929193;7982920;8034624;8052599;8084603;8125298;8139559;8175658;8246987;8253717;8276809;8294442;8313897;8384556;8385099;8388538;8394019;8440175;8596638;8599763;8603569;8612729;8621607;8621719;8628286;8631888;8636073;8647200;8648629;8649427;8662998;8670861;8695807;8697095;8702385;8702949;8702998;8766817;8798481;8805332;8810341;8896416;8910607;8916957;8918464;8918688;8941725;8947469;8961927;8962058;8995243;9032108;9079809;9092538;9113989;9123823;9130710;9139718;9150145;9162069;9174058;9178760;9178903;9223670;9233773;9234717;9247029;9259313;9268059;9312149;9334184;9341793;9356464;9360994;9361008;9381982;9394803;9414268;9435577;9446654;9446795;9461587;9461588;9489702;9541596;9564850;9610355;9614102;9632636;9658397;9687533;9708406;9756944;9774384;9774657;9801792;9804835;9808187;9852124;9886492;9890943;9891995;9892650;9918857;9988765 5295 E5RGI8;E5RHI0;E5RJY0;E5RK66;H0YB27;H0YBC2;P27986 ABBA01048296;AC016564;AC104120;AF279367;AI124626;AI334281;AK000121;AK094785;AK126345;AK223613;AK294919;AK299743;AMYH02011456;AMYH02011457;AW630519;BC030815;BC094795;BE888150;BQ723333;CA427864;CB216668;CH471137;CT003423;DA487709;JX133164;JX133165;M61906;NG_012849;NM_001242466;NM_181504;NM_181523;NM_181524;U49349;XM_005248542 AAB04140;AAH30815;AAH94795;AAO15359;ADQ32177;AFP86291;AFP86292;BAD97333;BAG52931;BAG54309;BAH11924;BAH13115;EAW51311;EAW51312;EAW51313;NP_001229395;NP_852556;NP_852664;NP_852665;P27986;XP_005248599 Hs.132225;Hs.604502;Hs.734132 1650083;1653281;1676746;1683046;1684226;1718333;1745681;1785284;1793814;1793816;1858122;2108369;2114630;2114804;2127619;2183409;2185151;5024551 A003N10;GDB:631841;PIK3R1_8543;PMC291832P1;PMC291832P2;RH123681;RH17716;RH36897;RH44517;RH45585;RH75365;RH94245;SGC31850;SHGC-107225;SHGC-36907;SHGC-36976;WI-12591;WI-16112 AGM7;GRB1;IMD36;p85;p85-ALPHA OTTHUMP00000161918;OTTHUMP00000161919;OTTHUMP00000161920;OTTHUMP00000226152;OTTHUMP00000226159;PI3-kinase regulatory subunit alpha;PI3-kinase subunit p85-alpha;PI3K regulatory subunit alpha;phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha;phosphatidylinositol 3-kinase regulatory subunit alpha;phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1;phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha);phosphatidylinositol 3-kinase, regulatory, 1;phosphatidylinositol 3-kinase-associated p-85 alpha;phosphoinositide-3-kinase regulatory subunit;ptdIns-3-kinase regulatory subunit alpha;ptdIns-3-kinase regulatory subunit p85-alpha APPROVED protein-coding ENSG00000145675 HGNC:8979 01381 171833;269880;615214;616005 REVIEWED 6769652 PINK1-AS PINK1 antisense RNA ASSOCIATED WITH Parkinson Disease 6, Autosomal Recessive Early-Onset (inferred); PARKINSON DISEASE, LATE-ONSET (inferred) 1 p36.12 20642657 20652193 - 8554872 12975309;17362513 100861548 ABBA01059790;AK090466;AK172749;AL391357;AMYH02000431;AMYH02000432;AY358957;HG491756;NR_046507 Hs.710259 NAPINK1;PINK1-AS1;PINK1AS APPROVED ncrna ENSG00000117242 HGNC:38872 VALIDATED 6771275 PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing ENCODES a protein that exhibits phospholipase inhibitor activity (inferred); INVOLVED IN negative regulation of catalytic activity (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH diuron (ortholog); mercaptopurine (ortholog); purine-6-thiol (ortholog) 19 19 19 q13.31 40883431 40888735 + 44080952 44086256 + 43576800 43582104 + 6480464 12477932 390940 A6NC86 ABBA01040863;AC006276;AI298189;AK129550;AK296854;AMYH02036167;AX972549;BC071811;DW009999;L34079;NM_001193621;NM_001193622;XM_005258931;XM_006723214 A6NC86;AAC99796;BAH12443;CAF17657;NP_001180550;NP_001180551;XP_005258988;XP_006723277 Hs.22049 1649297;1729283;1729345 G23948;G64133;G64200 phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein;uncharacterized protein ENSP00000244321 protein-coding ENSG00000234465 HGNC:44206 VALIDATED 1603396 PILRB paired immunoglobin-like type 2 receptor beta The paired immunoglobin-like type 2 receptors consist of highly related activating and inhibitory receptors that are involved in the regulation of many aspects of the immune system. The paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This gene encodes the activating member of the receptor pair and contains a truncated cytoplasmic tail relative to its inhibitory counterpart (PILRA), that has a long cytoplasmic tail with immunoreceptor tyrosine-based inhibitory (ITIM) motifs. This gene is thought to have arisen from a duplication of the inhibitory PILRA gene and evolved to acquire its activating function. [provided by RefSeq, Jun 2013] 7 7 7 q22.1 94685426 94695252 + 99955626 99965454 + 100358003 100367831 + 6480464 10327049;10660620;10903717;11181995;11812650;12477932;14667819;14702039;15381729;15489334;15498874;16344560;16926269;17207965;22990118;23251661;24250222;24843130;9632768 29990 C9J8P3;C9JGQ4;C9JNA4;C9JPU0;C9JTD2;Q9UKJ0;V9GYC2 ABBA01013218;ABBA01013219;AC005071;AF161081;AJ400845;AMYH02016378;BC050547;CH236956;CH471091;CS538134;NM_178238 AAD52965;AAH50547;ADQ33053;CAC19193;CAM84960;EAW76551;NP_839956;Q9UKJ0 Hs.632314 2118341;2218062 STAG3_3530;STS-W69468 FDFACT1;FDFACT2 OTTHUMP00000207806;OTTHUMP00000207866;OTTHUMP00000207942;OTTHUMP00000207943;OTTHUMP00000210926;activating receptor PILR-beta;activating receptor PILRbeta;cell surface receptor FDFACT;cell surface receptor FDFACT1;cell surface receptor FDFACT2;paired immunoglobin-like receptor beta;paired immunoglobulin-like receptor beta;paired immunoglobulin-like type 2 receptor beta APPROVED protein-coding HGNC:18297 605342 REVIEWED 1351325 PIP prolactin-induced protein ENCODES a protein that exhibits aspartic-type endopeptidase activity; glycoprotein binding; IgG binding; INVOLVED IN detection of chemical stimulus involved in sensory perception of bitter taste; negative regulation of T cell apoptotic process; positive regulation of gene expression; FOUND IN extracellular space; extracellular vesicular exosome; nucleus; INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; bicalutamide; genistein 7 7 7 q34 137666037 137673689 + 142829174 142836834 + 143132081 143139741 + 1580863;6480464 10072505;10713110;10820003;11133986;11992405;12477932;12690205;12755619;14638438;15489334;15632136;15851553;16740002;17353931;18251583;18930737;19056867;19217055;19262752;1955075;19615732;19620839;19650845;2013294;20360068;21139048;21411781;21809344;21883842;22118674;22209935;22354994;22724438;22952844;22963676;23011826;23085372;23332923;23602568;24114735;24244333;24272937;2727805;3667631;9074931;9218538;9724097 5304 P12273 ABBA01034133;AC093659;AK312227;AMYH02016932;BC010950;BC010951;CD723133;CH236959;CH471198;J03460;NM_002652;X51501;Y10179 AAA60091;AAH10950;AAH10951;BAG35160;CAA35870;CAA71252;EAL23781;EAW51887;NP_002643;P12273 Hs.99949 1854207;2168287 PIP1;RH71339 GCDFP-15;GCDFP15;GPIP4;SABP OTTHUMP00000202101;gross cystic disease fluid protein 15;prolactin-inducible protein;secretory actin-binding protein protein-coding ENSG00000159763 HGNC:8993 07179 176720 VALIDATED 1314001 PINK1 PTEN induced putative kinase 1 This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008] 1 1 1 p36 19284119 19302182 + 20959948 20978004 + 20633455 20651511 + 2290300;6480464;6907045;7240710;8554872;8699517 16702191 11254447;11494141;12447943;12477932;12548343;12548371;14607334;14702039;15087508;15349859;15349860;15349870;15489334;15505170;15505171;15542245;15596610;15717329;15824318;15876334;15894486;15955953;15955954;15970950;16009891;16046032;16079129;16157901;16207731;16226715;16257123;16354302;16482571;16547921;16632486;16672981;16700027;16710414;16769864;16805805;16966503;16969854;17000703;17013904;17017532;17055324;17084972;17141510;17154281;17172567;17202228;17219214;17362513;17557243;17567565;17579517;17707122;17724286;17766179;17906618;17950257;17960343;17989306;18003639;18031932;18068301;18211709;18221368;18261714;18272063;18286320;18307263;18330912;18359116;18378882;18397367;18469032;18486522;18495756;18524835;18541801;18546294;18560593;18584234;18685134;18687899;18704525;18785233;18957282;18973254;19006224;19038850;19048950;19076428;19087301;19139432;19152501;19167501;19205068;19214605;19224617;19229105;19242547;19270741;19276113;19279012;19285945;19330279;19351622;19358826;19405094;19492085;19500570;19562775;19692353;19726410;19822161;19847793;19880420;19889566;19890973;19904588;19944740;20012177;20034704;20045449;20098416;20146068;20153330;20164189;20171192;20179104;20301402;20301792;20356854;20376796;20379614;20399249;20404107;20461815;20483373;20506312;20508036;20513816;20547144;20558144;20637729;20798600;20842103;20871098;20877624;20971498;21138942;21145388;21151955;21177249;21187721;21242281;21322020;21355049;21366594;21408142;21412950;21426348;21606348;21677397;21743139;21784538;21925922;21963094;21987572;22043288;22048964;22057787;22076283;22078885;22212487;22233331;22238344;22280891;22354088;22388932;22396657;22434215;22445250;22486164;22547060;22643835;22724072;22910362;22939624;22956510;23212910;23244239;23251494;23256036;23261939;23303188;23319602;23393160;23459931;23472196;23519076;23525905;23533695;23670163;23751051;23885119;23933751;23959866;23986421;24121706;24128678;24149440;24149988;24151868;24184327;24189060;24250222;24357652;24383081;24446486;24513209;24660806;24703837;24751536;24784582;24999239 65018 Q9BXM7 AB053323;ABBA01059790;AF316873;AK075225;AK130746;AL391357;AMYH02000431;AMYH02000432;BC009534;BC028215;CH471134;HH961852;NG_008164;NM_032409 AAH09534;AAH28215;AAK28062;ABM81959;ABM84256;ABM85138;ABM87645;BAB55647;BAC11484;CBX51399;EAW94934;EAW94935;NP_115785;Q9BXM7 Hs.389171 1335051;1338217;1667589;1685369;1736090;1776681;2134931;2134939;2138252;2138254;2152961;2159592;7186972 A001Z12;D19S997;D1S2015E;D1S2674;D1S478;D1S483;G19810;G34804;RH12430;RH64541;RH91506;SHGC-2365;WI-15835 BRPK;FLJ27236;PARK6 OTTHUMP00000002881;PTEN-induced putative kinase protein 1;protein kinase BRPK;serine/threonine-protein kinase PINK1, mitochondrial APPROVED protein-coding ENSG00000158828 HGNC:14581 10514 605909;608309 REVIEWED 1321121 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011] 19 19 19 p13 9841421 9855782 + 9945883 9960365 + 9835207 9849689 + 1580863;6480464;6484113;6907045;8663430;8693431;8662965;8693422;8693424;8693420;8554872;8693429;8693427;8693428 17311089;18188456;19770516;20307651;20679336;21810655;22064478;22713868;23487407 10037602;10391244;10393805;10504341;10888662;10932246;10939594;11326318;11356192;11432833;11470801;11533658;11575923;11604498;11741599;11774038;11787050;11805292;11940573;11978535;11988841;12101225;12107413;12153046;12388558;12397361;12397362;12410395;12477932;12540053;12579289;12686540;12721297;12792768;12881709;14559993;14572447;14690596;14702039;14967043;15048125;15111319;15175157;15474361;15489334;15664191;15670742;15701524;15867923;15950321;15964795;16024801;16055720;16095818;16118204;16123044;16124054;16139797;16169070;16189514;16223725;16227615;16273101;16365047;16384626;16428447;16449657;16476580;16554819;16697218;16699525;16701948;16713569;16820873;16865250;16907857;16972081;17082615;17129455;17163675;17297438;17316687;17317113;17334375;17347650;17353931;17355867;17393110;17466629;17468107;17482359;17624454;17626162;17670986;17681194;17766376;17828269;17878917;17906639;17938171;18006688;18007120;18039859;18062707;18294451;18359295;18635547;18676680;18676833;18684817;18794148;18844375;19077306;19084525;19122240;19131971;19141981;19151708;19158244;19168580;19170196;19287979;19288014;19338781;19439498;19458071;19502098;19565466;19584057;19592546;19597489;19619441;19625176;19625347;19638580;19668231;19681904;19682092;19692168;19846884;19855176;19885590;19904610;19909517;19920136;19940183;19996102;20009523;20033770;20060900;20100838;20110589;20173753;20179103;20179161;20180533;20359085;20376080;20479004;20529865;20569234;20580132;20622153;20675384;20735350;21051667;21139048;21152000;21243369;21255181;21296877;21454638;21497122;21573702;21624135;21660049;21680504;21682951;21685363;21693590;21714498;21741598;21745146;21746900;21750208;21764651;21847096;21850685;21852138;21876001;21890473;21900206;21967280;21980916;21988832;22011578;22033920;22115795;22158035;22184106;22261503;22322860;22505724;22549912;22566623;22580604;22608923;22623428;22789442;22894932;22907757;22926167;22935610;22939629;22986147;23025283;23030417;23054026;23067222;23096908;23129219;23193159;23221557;23231502;23269625;23272207;23274710;23280577;23333752;23362255;23363774;23390529;23421996;23542176;23606538;23623683;23633483;23648381;23708493;23716601;23754278;23863879;23874525;23970419;23972472;23976970;23982872;23990466;23994618;24001231;24013949;24021617;24072701;24100296;24116866;24126052;24145406;24289610;24311591;24357640;24416409;24439903;24509437;24816145;24840168;24915000;8552658;8606777;9200606;9299231;9482729;9499405 5300 K7EMU7;K7EN45;K7EP26;Q13526 ABBA01029962;AC008752;AF086512;AF501321;AK092970;AK097558;AK291074;AMYH02035476;BC002899;BC031971;BG912418;BI827520;BI827672;BT019331;CA439440;CD675162;CH471106;CR407654;NG_029167;NM_006221;NR_038422;NR_038830;U49070 AAC50492;AAH02899;AAH31971;AAM81970;AAV38138;ABM83904;ABM87225;BAF83763;BAG53486;CAG28582;EAW84057;EAW84058;EAW84059;NP_006212;Q13526 Hs.465849 2159334;2217750;5015879;5016478;5020414;5021369;5022578;5037552 A006W47;D1S1423;D8S2279;GDB:314949;GDB:434012;L17688;L17796;PIN1_3073 DOD;FLJ40239;FLJ77628;MGC10717;UBL5 PPIase Pin1;peptidyl-prolyl cis-trans isomerase NIMA-interacting 1;peptidyl-prolyl cis-trans isomerase Pin1;peptidyl-prolyl cis/trans isomerase, NIMA-interacting;prolyl isomerase;protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1;protein (peptidylprolyl cis/trans isomerase) NIMA-interacting 1;rotamase Pin1 APPROVED protein-coding ENSG00000127445 HGNC:8988 03031 601052 REVIEWED 734348 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008] 10 10 10 p12.2 22511468 22691158 - 22823766 23003503 - 22534837 22714574 - 1580863;6480464;6907045 12477932;12509423;14582145;14614850;14614854;14702039;15046600;15164054;15489334;16094259;16385451;16801950;16823801;17410640;17555944;18314871;18364242;18545987;19328558;19475563;19644675;19656170;19937977;20379614;20583997;21041608;21124964;21139048;21377334;21906983;21988832;22053931;22190034;22952844;23251661;23455922;23739505;23996088;24081551;24086693;24209622;24816145;7629060;7639683;7852364;8869744;9367159 5305 H7BXS3;P48426;Q5JUT2;Q5JUT3;S4R320 ABBA01034474;ABBA01034475;ABBA01034476;ABBA01034477;AK023329;AK294817;AK294867;AL157707;AL390318;AL513128;AMYH02022438;BC018034;CH471072;DB504104;EF445009;NM_005028;S78798;U14957;XM_006717450 AAA64835;AAB35041;AAH18034;ACA06044;ACA06045;BAG57933;BAG57970;EAW86140;EAW86141;NP_005019;P48426;XP_006717513 Hs.57079 1336297;1338893;1647557;1651185;1658585;1658649;1685946;1710646;1728105;1739283;1739817;1754101;1773128;1776200;1778785;2144945;2151832;2154476;2184677;7185278 A006T43;D10S1259;D10S1522;D10S1568;D10S1621E;D10S1662;D10S2371;D10S553;G63324;RH46424;RH70570;RH78590;SHGC-132136;SHGC-33797;SHGC-54644;SHGC-58154;SHGC-84121;STS-H93068;WIAF-1715 FLJ13267;PI5P4KA;PIP5K2A;PIP5KII-alpha;PIP5KIIA;PIPK 1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha;1-phosphatidylinositol-4-phosphate kinase;1-phosphatidylinositol-4-phosphate-5-kinase;1-phosphatidylinositol-5-phosphate 4-kinase 2-alpha;OTTHUMP00000019300;PI(5)P 4-kinase type II alpha;PIP4KII-alpha;PIP5KIII;PIP5KIIalpha;PtdIns(4)P-5-kinase B isoform;diphosphoinositide kinase 2-alpha;phosphatidylinositol 5-phosphate 4-kinase type II alpha;phosphatidylinositol 5-phosphate 4-kinase type-2 alpha;phosphatidylinositol-4-phosphate 5-kinase, type II, alpha;phosphatidylinositol-5-phosphate 4-kinase type-2 alpha;ptdIns(4)P-5-kinase C isoform;ptdIns(5)P-4-kinase isoform 2-alpha;type II phosphatidylinositol-4-phosphate 5-kinase 53 K isoform APPROVED protein-coding ENSG00000150867 HGNC:8997 11931 603140 REVIEWED 733243 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase, type II, gamma ENCODES a protein that exhibits identical protein binding; INVOLVED IN phosphatidylinositol phosphorylation (inferred); PARTICIPATES IN inositol phosphate metabolic pathway; phosphatidylinositol 3-kinase signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH arsenous acid; diarsenic trioxide; ethyl methanesulfonate 12 12 12 q13.3 57640774 57653027 + 57984942 57997211 + 57591159 57603428 + 1580863;6480464;6907045;8554872 12477932;14614850;15046600;18029348;18255255;18794853;19056867;19322201;19644859;20439292;21139048;21832049;23455922;23940030;8125298;9367159 79837 B3KQV3;F8VNT5;F8VU68;F8VVB2;H0YIJ6;Q8TBX8 ABBA01026695;AC022506;AI167420;AK025708;AK075553;AK125526;AK225343;AK225685;AK297243;AK302254;AK315588;AMYH02026588;AX754970;BC028596;BX419431;CH471054;KF459552;NM_001146258;NM_001146259;NM_001146260;NM_024779;XM_005269152;XM_006719604 AAH28596;ABM85608;ABW03741;BAB15223;BAG37960;BAG52165;BAG54209;BAG59723;BAG63606;CAD99241;EAW97031;NP_001139730;NP_001139731;NP_001139732;NP_079055;Q8TBX8;XP_005269209;XP_006719667 Hs.745011 FLJ22055;PIP5K2C OTTHUMP00000243050;OTTHUMP00000243051;OTTHUMP00000243053;OTTHUMP00000243056;PI(5)P 4-kinase type II gamma;PIP4KII-gamma;phosphatidylinositol 4-phosphate 5-kinase;phosphatidylinositol 5-phosphate 4-kinase type II gamma;phosphatidylinositol 5-phosphate 4-kinase type-2 gamma;phosphatidylinositol-4-phosphate 5-kinase, type II, gamma;phosphatidylinositol-5-phosphate 4-kinase type-2 gamma protein-coding ENSG00000166908 HGNC:23786 15138 VALIDATED 1351926 PIP5K1L1 phosphatidylinositol-4-phosphate 5-kinase, type I-like 1 q23.33 12477932 100101438 AL365510;BC068549;NG_006440 Hs.149255 MGC87444;bA429H9.1 pseudo HGNC:31443 736672 PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008] 17 17 17 q12 33582904 33617123 - 36921944 36956218 - 38765689 38799905 - 6480464;6907045 12136098;12477932;14614850;14691457;15046600;15489334;16713569;17303380;18218622;20881960;21139048;21514270;21906983;22053931;22939629;23455922;24127122;24209622;24816145;9038203;9367159;9753329;9843587 8396 P78356 ABBA01031898;ABBA01031899;ABBA01031900;ABBA01031901;AC006449;AI333549;AJ331087;AK307169;AMYH02033364;AMYH02033365;AMYH02033366;BC027459;BC073896;BC094858;BM991982;BT019614;CH471152;NM_003559;U85245;XM_006722130;XM_006722131;XM_006722132;XM_006725363;XM_006725364;XM_006725365 AAB48596;AAH27459;AAV38420;EAW60532;EAW60533;EAW60534;EAW60535;EAW60536;NP_003550;P78356;XP_006722193;XP_006722194;XP_006722195;XP_006725426;XP_006725427;XP_006725428 Hs.260603 1673315;1677276;1678221;1708186;1734404;1734488;1736664;1854310;2109657;2116948;2119618;2125375;2142847;2150957;2176723 D17S1370E;D17S1379E;D17S1442E;D17S1495E;HSC0GG082;IB2317;PIP5K2B__7000;RH16511;RH36358;RH45659;RH76647;RH94016;SHGC-2348;SHGC-2375;SHGC-79346 PI5P4KB;PIP5K2B;PIP5KIIB;PIP5KIIbeta 1-phosphatidylinositol 5-phosphate 4-kinase 2-beta;1-phosphatidylinositol-4-phosphate kinase;1-phosphatidylinositol-5-phosphate 4-kinase 2-beta;OTTHUMP00000164155;PI(5)P 4-kinase type II beta;PIP4KII-beta;PTDINS(4)P-5-kinase;diphosphoinositide kinase 2-beta;phosphatidylinositol 5-phosphate 4-kinase type II beta;phosphatidylinositol 5-phosphate 4-kinase type-2 beta;phosphatidylinositol-4-phosphate 5-kinase, type II, beta;phosphatidylinositol-5-phosphate 4-kinase type-2 beta;ptdIns(5)P-4-kinase isoform 2-beta APPROVED protein-coding ENSG00000276293 HGNC:8998 04463 603261 REVIEWED 1606271 PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1 ENCODES a protein that exhibits telomeric RNA binding; INVOLVED IN mitotic metaphase plate congression; FOUND IN kinetochore; nuclear chromosome; nucleolus; INTERACTS WITH arsenous acid; atrazine; cobalt dichloride 8 8 8 p23 9750922 9825196 - 10622473 10697394 - 10764961 10839899 - 6480464 11003615;11701125;12107183;12439923;12477932;12508358;14702039;14984932;15044100;15381700;15489334;15637589;16169070;16712791;17353931;18029348;18784941;19117989;19164295;19265708;19393617;19553660;20056641;20367640;20379614;20544396;20573420;20620128;20686565;21044950;21060863;21119197;21139048;21900206;21909108;21988832;22316341;22331467;22404213;22749911;22882268;23341363;23912465;24097068;24268029;24412852;24415760;24816145;24823796 54984 E5RGR1;E5RJG9;H0YBF0;Q96BK5 ABBA01026888;AC011008;AC105001;AF205718;AF418553;AJ344104;AK313715;AMYH02017429;AY238941;AY262278;AY523566;BC015479;BC043573;BC093762;BC143382;CB125276;CH471157;NM_001284356;NM_017884 AAG18009;AAH15479;AAH93762;AAN31333;AAP12532;AAP37006;AAS19507;BAG36458;CAC51436;EAW65595;EAW65596;EAW65597;NP_001271285;NP_060354;Q96BK5 Hs.490991;Hs.583894 1669047;1691114;1790241;2109655;2162291 A004N12;D8S453;PINX1_9861;RH36675;S0006 FLJ20565;LPTL;LPTS;MGC8850 67-11-3 protein;OTTHUMP00000224984;OTTHUMP00000224985;OTTHUMP00000224986;OTTHUMP00000225053;OTTHUMP00000225054;OTTHUMP00000246854;PIN2 interacting protein 1;PIN2-interacting protein 1;PIN2/TERF1-interacting telomerase inhibitor 1;TRF1-interacting protein 1;hepatocellular carcinoma-related putative tumor suppressor;liver-related putative tumor suppressor;pin2-interacting protein X1;protein 67-11-3 APPROVED protein-coding ENSG00000254093 HGNC:30046 05934 606505 VALIDATED 1314561 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase, type I, alpha ENCODES a protein that exhibits 1-phosphatidylinositol-4-phosphate 5-kinase activity; kinase binding; INVOLVED IN actin cytoskeleton reorganization; activation of Rac GTPase activity; cell chemotaxis; PARTICIPATES IN Arf family mediated signaling pathway; E-cadherin signaling pathway; endocytosis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; focal adhesion; lamellipodium; INTERACTS WITH 17beta-estradiol; 5-azacytidine; amiodarone 1 1 1 q21.3 124286312 124337297 + 151171021 151222007 + 151198030 151249531 + 1580863;6480464;6484113;6907045;8554872 10589680;10747863;10828584;11032811;11042212;12477932;12682053;14614850;14614854;14701839;15046600;15157668;15489334;15870270;16169070;16344560;16710414;16979564;17496116;17567994;18029348;18073347;18288197;18305108;18534983;18781797;18981107;19158393;19331818;19889969;20426790;20639865;20660631;21139048;21832049;21890473;21906983;21963094;21987572;22053931;22505724;22939629;23000965;23382074;23589613;23862649;23994136;24163370;24654937;25036637;8955136 8394 A2A5X0;A6PW56;A6PW57;A6PW58;B4DY52;E9PSF8;Q99755 ABBA01049383;ABBA01049384;ABBA01049385;ABBA01049386;AF085856;AK291015;AK295691;AK302268;AK309826;AL592424;AMYH02001874;AMYH02001875;BC007833;CH471121;DA759212;DQ656041;NM_001135636;NM_001135637;NM_001135638;NM_003557;U78575;U78576;U78577;U78578;XM_005245525;XM_005245526;XM_005245527;XM_005245528;XM_005245529;XM_005245530;XM_005245531;XM_005245532;XM_006711563;XM_006711564;XM_006711565;XM_006711566;XM_006711567;XM_006711568 AAC50910;AAC50911;AAC50912;AAC50913;AAH07833;BAF83704;BAG58542;BAG63614;EAW53459;EAW53460;EAW53461;NP_001129108;NP_001129109;NP_001129110;NP_003548;Q99755;XP_005245582;XP_005245583;XP_005245584;XP_005245585;XP_005245586;XP_005245587;XP_005245588;XP_005245589;XP_006711626;XP_006711627;XP_006711628;XP_006711629;XP_006711630;XP_006711631 Hs.655131;Hs.661888 1678567;1685365;1690690;1807128;1807184;1808550;1808694;1809920;1810220;1810222;1812202;1816420;1817440;1817826;1819078;1820162;1821236;1822840;1825396;1825554;1826364;1826824;1828020;1828022;1831238;1831450;1832782;1833340;1833454;1834376;1835870;1836838;1836880;1837114;1837538;1837932;1839120;1840680;1842286;1843172;1844826;1844828;1845070;1845392;1845928;1924750;1924752;1924754;1924756;1924758;1924760;1924762;1924764;1924766;1924768;1924770;1924772;1924774;1924776;1924778;1924780;1924782;1924784;1924786;1924788;1924790;1924792;1924794;1924796;1924798;1924800;1924802;1924804;1924806;1924808;1924810;1924812;1924814;1924816;1924818;1924820;1924822;1924824;1924826;1924828;1924830;1924832;1924834;1924836;1924838;1924840;1924842;1924844;1924846;1924848;1924850;1924852;1924854;1924856;1924858;1924860;1924862;1924864;1924866;1924868;1924870;1924872;1924874;1924876;1924878;1924880;1924882;1924884;1924886;1924888;1924890;1924892;1924894;1924896;1924898;1924900;1924902;1924904;1924906;1924908;1924910;1924912;1924914;1924916;1924918;1924920;1924922;1924924;1924926;1924928;1924930;1924932;1924934;1924936;1924938;1924940;1924942;1924944;1924946;1924948;1924950;1924952;1924954;1924956;1924958;1924960;1924962;1924964;1924966;1924968;1924970;1924972;1924974;1924976;1924978;1924980;1924982;1924984;1924986;1924988;1924990;1924992;1924994;1924996;1924998;1925000;1925002;1925004;1925006;1925008;1925010;1925012;1925014;1925016;1925018;1925020;1925022;1925024;1925026;1925028;1925030;1925032;1925034;1925036;1925038;1925040;1925042;1925044;1925046;1925048;1925050;1925052;1925054;1925056;1925058;1925060;1925062;1925064;1925066;1925068;1925070;1925072;1925074;1925076;1925078;1925080;1925082;1925084;1925086;1925088;1925090;1925092;1925094;1925096;1925098;1925100;1925102;1925104;1925106;1925108;1925110;1925112;1925114;1925116;1925118;1925120;1925122;1925124;1925126;1925128;1925130;1925132;1925134;1925136;1925138;1925140;1925142;1925144;1925146;2106569;2117421;2146908;2166822;2207462;2207464;2207466;2207468;2207470;2207472;2207474;2207476;2207478;2207480;2207482;2207484;2207486;2207488;2207490;2207492;2207494;2207496;2207498;2207500;2207502;2207504;2207506;2207508;2207510;2207512;2207514;2207516;2207518;2207520;2207522;2207524;2207526;2207528;2207530;2207532;2207534;2207536;2207538;5092664;5124083 A005O11;ECD04529;ECD04558;ECD05257;ECD05329;ECD05952;ECD06102;ECD06103;ECD07107;ECD09252;ECD09770;ECD09967;ECD10605;ECD11155;ECD11695;ECD12508;ECD13805;ECD13885;ECD14295;ECD14527;ECD15133;ECD15134;ECD16755;ECD16861;ECD17532;ECD17813;ECD17870;ECD18336;ECD19096;ECD19583;ECD19604;ECD19722;ECD19936;ECD20137;ECD20739;ECD21531;ECD22346;ECD22794;ECD23629;ECD23630;ECD23752;ECD23913;ECD24184;G32248;PIP5K1A__5701;REN33200;REN33201;REN33202;REN33203;REN33204;REN33205;REN33206;REN33207;REN33208;REN33209;REN33210;REN33211;REN33212;REN33213;REN33214;REN33215;REN33216;REN33217;REN33218;REN33219;REN33220;REN33221;REN33222;REN33223;REN33224;REN33225;REN33226;REN33227;REN33228;REN33229;REN33230;REN33231;REN33232;REN33233;REN33234;REN33235;REN33236;REN33237;REN33238;REN33239;REN33240;REN33241;REN33242;REN33243;REN33244;REN33245;REN33246;REN33247;REN33248;REN33249;REN33250;REN33251;REN33252;REN33253;REN33254;REN33255;REN33256;REN33257;REN33258;REN33259;REN33260;REN33261;REN33262;REN33263;REN33264;REN33265;REN33266;REN33267;REN33268;REN33269;REN33270;REN33271;REN33272;REN33273;REN33274;REN33275;REN33276;REN33277;REN33278;REN33279;REN33280;REN33281;REN33282;REN33283;REN33284;REN33285;REN33286;REN33287;REN33288;REN33289;REN33290;REN33291;REN33292;REN33293;REN33294;REN33295;REN33296;REN33297;REN33298;REN33299;REN33300;REN33301;REN33302;REN33303;REN33304;REN33305;REN33306;REN33307;REN33308;REN33309;REN33310;REN33311;REN33312;REN33313;REN33314;REN33315;REN33316;REN33317;REN33318;REN33319;REN33320;REN33321;REN33322;REN33323;REN33324;REN33325;REN33326;REN33327;REN33328;REN33329;REN33330;REN33331;REN33332;REN33333;REN33334;REN33335;REN33336;REN33337;REN33338;REN33339;REN33340;REN33341;REN33342;REN33343;REN33344;REN33345;REN33346;REN33347;REN33348;REN33349;REN33350;REN33351;REN33352;REN33353;REN33354;REN33355;REN33356;REN33357;REN33358;REN33359;REN33360;REN33361;REN33362;REN33363;REN33364;REN33365;REN33366;REN33367;REN33368;REN33369;REN33370;REN33371;REN33372;REN33373;REN33374;REN33375;REN33376;REN33377;REN33378;REN33379;REN33380;REN33381;REN33382;REN33383;REN33384;REN33385;REN33386;REN33387;REN33388;REN33389;REN33390;REN33391;REN33392;REN33393;REN33394;REN33395;REN33396;REN33397;REN33398;RH46454;RH67813;RH70033;RH76364;RH81051;STS-U78575;stSG627012;stSG627014;stSG627015;stSG627016;stSG627017;stSG627018;stSG627019;stSG627020;stSG627021;stSG627022;stSG627023;stSG627024;stSG627025;stSG627026;stSG627027;stSG627028;stSG627030;stSG627031;stSG627032;stSG627033;stSG627034;stSG627035;stSG627036;stSG627037;stSG627038;stSG627039;stSG627040;stSG627041;stSG627042;stSG627043;stSG627044;stSG627045;stSG627046;stSG627047;stSG627048;stSG627049;stSG627050;stSG627051;stSG627052 68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha;68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;OTTHUMP00000014289;OTTHUMP00000014290;OTTHUMP00000014291;OTTHUMP00000196331;OTTHUMP00000235065;PIP5K1-alpha;PIP5KIalpha;phosphatidylinositol 4-phosphate 5-kinase type I alpha;phosphatidylinositol 4-phosphate 5-kinase type-1 alpha;phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;ptdIns(4)P-5-kinase 1 alpha protein-coding ENSG00000143398 HGNC:8994 603275 VALIDATED 1346757 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase-like 1 PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM, Jun 2009] 9 9 9 q34.11 101335032 101344303 - 130683808 130693076 - 127920886 127931001 - 737633;1580863;6480464;6907045 12477932 14701839;17207965;19680787 138429 Q5T9C9 ABBA01043855;AL157935;AMYH02021701;BC042184;BE881330;CH471090;NM_001135219;NM_173492;XM_006716956 AAH42184;ADQ32978;EAW87722;EAW87723;EAW87724;EAW87725;EAW87726;EAW87727;EAW87728;NP_001128691;NP_775763;Q5T9C9;XP_006717019 Hs.734928 5015861;5109281;7185938 D10S16;D1S1425 MGC46424;PIPKH;RP11-203J24.5;bA203J24.5 OTTHUMP00000022215;OTTHUMP00000162380;PI(4)P 5-kinase-like protein 1;phosphatidylinositol 4-phosphate 5-kinase-like protein 1;phosphatidylinositol phosphate kinase homolog;phosphatidylinositol-4-phosphate 5-kinase-like protein 1;ptdIns(4)P-5-kinase-like protein 1 APPROVED protein-coding ENSG00000167103 HGNC:28711 15139 612865 VALIDATED 1322755 PIPOX pipecolic acid oxidase ENCODES a protein that exhibits L-pipecolate oxidase activity; receptor binding; sarcosine oxidase activity; INVOLVED IN L-lysine catabolic process to acetyl-CoA via L-pipecolate; oxidation-reduction process; PARTICIPATES IN glycine, serine and threonine metabolic pathway; lysine degradation pathway; FOUND IN peroxisome; INTERACTS WITH 1-piperideine-6-carboxylic acid; 17alpha-ethynylestradiol; 17beta-estradiol 17 17 17 q11.2 24229276 24243594 + 27369918 27384245 + 29042900 29057218 + 1580863;6480464;6907045 10642506;10772957;10931946;11330064;12477932;14702039;15489334;16169070;20178365;20634891;21044950 51268 K7EJU8;K7EK30;Q9P0Z9 ABBA01015034;AC024619;AF134593;AF136970;AK022773;AK027498;AMYH02033234;BC008960;BC027622;C21024;CH471159;CR457155;NM_016518 AAF37331;AAG49431;AAH08960;AAH27622;ABM87537;ABW03898;BAG51332;CAG33436;EAW51168;EAW51169;NP_057602;Q9P0Z9 Hs.462585 1678535;1680970;5017227;5093808 G32936;G38154;RH36300;RH67627 PSO L-pipecolate oxidase;L-pipecolic acid oxidase;LPIPOX;OTTHUMP00000163523;peroxisomal sarcosine oxidase protein-coding ENSG00000179761 HGNC:17804 17853 VALIDATED 2804371 PIP5K1P1 phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 INTERACTS WITH silicon dioxide 6 6 6 p24.3 9215658 9219899 + 7986335 7990577 + 7986102 7990344 + 6480464 12477932;21139048 206426 ABBA01022052;AK312819;AL096800;AMYH02013065;BC028580;NR_027712 ABM82500;ABM85694;BAG35676 Hs.676966 1808550;5124083 ECD05257;RH70033 MGC26597 pseudo HGNC:28372 VALIDATED 1602824 PIPSL PIP5K1A and PSMD4-like, pseudogene This locus is a transcribed pseudogene with similarity to two adjacent chromosome 1 loci: phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A, GeneID 8394) and proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4, GeneID 5710). The pseudogene is believed to have occurred from L1 retrotransposition into chromosome 10 of a read-through transcript between the two adjacent loci. Evidence of transcription has been found (PubMed IDs: 16344562 and 17623810), but the latter publication found no evidence that the predicted protein is translated. The NCBI RefSeq Project therefore continues to treat this as a transcribed pseudogene. [provided by RefSeq, Jan 2009] 10 10 10 q23.33 89458049 89461808 - 95717897 95721672 - 93958140 93961915 - 6480464 12477932;15164054;15489334;16344562;17623810;20525901;21906983;22939629 266971 A2A3N6 ABBA01021865;AL365510;AMYH02023566;BC068549;NR_002319 A2A3N6 Hs.149255 1925084;5113979;5122690 REN33367;RH26962;SHGC-52120 FLJ33990;MGC87444;PIP5K1L1;PIP5K1P3;PSMD4P2;bA429H9.1 APPROVED pseudo ENSG00000180764 HGNC:23733 VALIDATED 1322093 PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN phosphatidylinositol biosynthetic process (inferred); phosphatidylinositol phosphorylation (inferred); phospholipid metabolic process (inferred); PARTICIPATES IN Wnt signaling, canonical pathway; endocytosis pathway; inositol phosphate metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN uropod; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 9 9 9 q13 41915824 42219303 + 71320188 71624092 + 68705332 69009176 + 6480464;6484113;6907045;8554872 12477932;14614850;14701839;15046600;15164053;15489334;17353931;18158329;19553680;19850283;20379614;20383146;20442317;20624912;21906983;23000965;23192594;23470693;23552101;24250222;7581382;8841185;8889548;8955136;9177790 8395 O14986;Q7KYT6 ABBA01033794;ABBA01033795;ABBA01033796;ABBA01033797;AK292734;AK295587;AL162730;AL354794;AL356219;AMYH02020925;AMYH02020926;AMYH02020927;BC030587;CB988216;CH471089;CK299479;NM_001278253;NM_003558;U52387;U78579;U78580;U78581;XM_005252261;XM_005252262;XM_006717300;XM_006717301 AAC50914;AAC50915;AAC50916;AAC51327;AAH30587;ABM81800;ABM84956;BAF85423;BAG58479;EAW62465;EAW62466;EAW62467;NP_001265182;NP_003549;O14986;XP_005252318;XP_005252319;XP_006717363;XP_006717364 Hs.534371 1337784;1339273;1663832;1709960;1722311;1726645;1732407;1732409;1732411;1753345;1755955;1762837;1763503;1773960;1787086;2112078;2115672;2140115;2140117;5093462 A006H39;A009P17;D9S1787;D9S1879;D9S2103;D9S887;D9S888;D9S889;G20821;G32732;G60071;G62557;SHGC-107181;SHGC-142776;SHGC-146607;SHGC-147203;SHGC-154986;SHGC-82248;STS-U78579;WIAF-1634 MSS4;STM7 OTTHUMP00000021423;OTTHUMP00000021424;PIP5K1-beta;PIP5KIbeta;phosphatidylinositol 4-phosphate 5-kinase type I beta;phosphatidylinositol 4-phosphate 5-kinase type-1 beta;phosphatidylinositol-4-phosphate 5-kinase type-1 beta;protein STM-7;ptdIns(4)P-5-kinase 1 beta;type I phosphatidylinositol 4-phosphate 5-kinase beta;type I phosphatidylinositol-4-phosphate 5-kinase beta protein-coding ENSG00000107242 HGNC:8995 04121 602745 VALIDATED 1354329 PISRT1 polled intersex syndrome regulated transcript 1 homolog (goat) 140464 AF404302 HGNC:16671 1342511 PIR pirin (iron-binding nuclear protein) This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] X X X p22.2 19518436 19626837 - 15402921 15511711 - 15384799 15493588 - 737633;1580863;6480464 12477932 10362352;12876364;14573596;15231748;15489334;15951572;16344560;17213182;19766747;20010624;20089166;20711196;21514450;22939629;23716661;24272884;9079676 8544 O00625 ABBA01071296;ABBA01071297;ABBA01071298;ABBA01071299;ABBA01071300;ABBA01071301;ABBA01071302;ABBA01071303;ABBA01071304;ABBA01071305;ABBA01071306;ABBA01071307;ABBA01071308;ABBA01071309;ABBA01071310;AC095351;AC097625;AK309656;AMYH02038913;AMYH02038914;AX399859;BC002517;BT019583;BT019584;CH471074;CR541822;DA686501;DT217415;KF510177;NG_012549;NM_001018109;NM_003662;U75931;Y07867;Y07868 AAH02517;AAV38390;AAV38391;ABM82867;ABM86054;CAA69194;CAA69195;CAD33303;CAG46621;EAW98886;EAW98887;EAW98888;NP_001018119;NP_003653;O00625 Hs.495728;Hs.732521 1701784;1702230;1737563;1787222;1846696;2109659;2141955;2143010;2149250;2168923;2183078;7184785;7184839 AF020096;DXS207;DXS6727;DXS6757;DXS7169;DXS7696;DXS7968;PIR_8825;SHGC-111483;SHGC-34929;STS-H69335 OTTHUMP00000022961;OTTHUMP00000022962;pirin;probable quercetin 2,3-dioxygenase PIR;probable quercetinase APPROVED protein-coding ENSG00000087842 HGNC:30048 04510 300931 REVIEWED 3184211 PIP5K1P2 phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 2 7 7 7 q36.3 153458537 153462882 + 159023686 159028019 + 159230996 159235329 + 100129824 ABBA01032296;AF027390;AMYH02017191;CH236954;NG_023450 pseudo HGNC:38068 VALIDATED 1352423 PITPNA phosphatidylinositol transfer protein, alpha This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009] 17 17 17 p13.3 1436720 1481546 - 1421283 1466110 - 1517989 1562816 - 1580863;6480464 11923101;12477932;12621583;15182174;15322105;15489334;16244667;17207965;17353931;17672918;18029348;1883207;20471030;21139048;21890473;21900206;21906983;23000965;24816145;7761838;7914867;8194769;8255295;8541325;8999962;9169461;9230105 5306 B4E1U1;F5GWE5;I3L2X8;I3L3W1;I3L459;I3L471;I3L4C0;I3L4H1;I3L4U7;I3NI10;Q00169;V9HWC5 ABBA01054666;AC100748;AK303986;AL117644;AL542612;AMYH02032743;AMYH02032744;AMYH02032745;BC027177;BC045108;BC068538;BC082976;CH471108;D30036;EU794647;M73704;NG_013017;NM_006224 AAA36441;AAH45108;AAH68538;AAH82976;ACJ13701;ADQ32152;BAA06276;BAG64903;EAW90610;EAW90611;EAW90612;NP_006215;Q00169 Hs.429819 1341713;1662050;1683946;1698410;1724315;1736943;1769124;1771230;1849981;1857697;2130765;2140966;2148550;2156628;5092998 A004M12;A009D46;D16S3107;D17S1376E;D17S1577;G32460;G33137;RH102747;RH119079;RH92932;SHGC-32158;SHGC-34337;STS-F09512;STS-T86162;WI-11384 HEL-S-36;MGC99649;PI-TPalpha;PITPN;VIB1A PI-TP-alpha;epididymis secretory protein Li 36;phosphatidylinositol transfer protein alpha isoform;ptdIns transfer protein alpha;ptdInsTP alpha APPROVED protein-coding ENSG00000174238 HGNC:9001 02548 600174 REVIEWED 6767066 PITPNA-AS1 PITPNA antisense RNA 1 17 17 17 p13.3 1435652 1436827 + 1420213 1421390 + 1516919 1518096 + 16344560;7566098;8889548 100306951 AA341969;ABBA01054666;AC100748;AMYH02032743;CA311656;DB053306;NG_029891;NR_028514 Hs.633815 1771230;1849981;2148550;2156628 A004M12;D17S1376E;SHGC-32158;SHGC-34337 APPROVED ncrna ENSG00000236618 HGNC:44116 VALIDATED 3539788 PIRT phosphoinositide-interacting regulator of transient receptor potential channels FOUND IN integral component of membrane (inferred); INTERACTS WITH potassium dichromate (ortholog) 17 17 17 p12 10756635 10772261 - 10725792 10741418 - 10822475 10838101 - 6480464 11181995;14702039;18455988 644139 P0C851 ABBA01054981;AC015908;AK021549;AK299808;AMYH02032970;AMYH02032971;CH471108;DC332889;NM_001101387 BAH13134;EAW89989;NP_001094857;P0C851 Hs.553909 phosphoinositide-interacting protein;phosphoinositide-interacting regulator of TRPV1 protein-coding ENSG00000233670 HGNC:37239 612068 VALIDATED 736239 PITPNB phosphatidylinositol transfer protein, beta This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013] 22 22 22 q12.1 12047622 12115220 - 28247657 28315255 - 27851669 27919306 - 1580863;6480464 10591208;12023904;12477932;14702039;15231748;15461802;15489334;16780419;18029348;18755076;1883207;19322201;20332109;20639865;21139048;21552555;21890473;21906983;21963094;22505724;23000965;24250222;24816145;8541325 23760 B3KYB6;B3KYB7;P48739 ABBA01055216;ABBA01055217;AK123384;AK302367;AK313064;AL031591;AMYH02038178;AMYH02038179;BC018704;BC031427;BQ774593;BU147254;CA435279;CH471095;CR456541;D30037;DC313909;HY176246;NM_001284277;NM_001284278;NM_012399 AAH18704;AAH31427;BAA06277;BAG35893;BAG53898;BAH13686;CAG30427;CAK54572;CAK54871;EAW59743;EAW59744;EAW59745;NP_001271206;NP_001271207;NP_036531;P48739 Hs.705323 1745165;1768104;1784498;1849499;1851923;2152155;2164047 A006Q06;D22S1104;D22S989E;GDB:595848;SGC31665;SHGC-144047;WI-11820 PI-TP-beta;PtdInsTP;VIB1B OTTHUMP00000198846;OTTHUMP00000198847;PtdIns transfer protein beta;phosphatidylinositol transfer protein beta isoform;phosphotidylinositol transfer protein, beta;ptdInsTP beta APPROVED protein-coding ENSG00000180957 HGNC:9002 06044 606876 REVIEWED 1352965 PISD phosphatidylserine decarboxylase Phosphatidylserine decarboxylases (PSDs; EC 4.1.1.65) catalyze the formation of phosphatidylethanolamine (PE) by decarboxylation of phosphatidylserine (PS). Type I PSDs, such as PISD, are targeted to the inner mitochondrial membrane by an N-terminal targeting sequence. PISD also contains a conserved LGST motif that functions as an autocatalytic cleavage site where the proenzyme is split into mature alpha and beta subunits (Schuiki and Daum, 2009 [PubMed 19165886]).[supplied by OMIM, Jul 2010] 22 22 22 q12.2 15814919 15827252 - 32014477 32058550 - 31618491 31662564 - 1580863;6480464;6484113;6907045 10591208;11076863;11256614;12477932;15461802;15489334;15489336;15790807;16169070;16192276;16381901;17478478;17567994;19165886;20877624;21139048;21890473;22990118;23776197;24654937;8619474;8870646;9110174 23761 B1AKM6;B1AKM8;B1AKM9;B1AKN0;F8WCS6;H0Y7P7;Q9UG56 ABBA01055341;AF035304;AF086277;AK298474;AL031255;AL050371;AL096768;AMYH02038246;AY927618;BC001482;BC009315;CH471095;CR456540;DQ655940;DQ656048;NM_014338;XM_005261455;XM_005261456;XM_005261457;XM_005261458;XM_005261459;XM_005261460;XM_005261461;XM_005261462;XM_006724199;XM_006724200;XM_006724201;XM_006724202 AAB88186;AAH01482;AAH09315;ABM86382;ABW03477;ABW03791;BAG60685;CAB43678;CAG30426;CAK54571;CAK54870;CAL38509;EAW59984;EAW59985;EAW59986;EAW59987;EAW59988;EAW59989;EAW59990;EAW59991;NP_055153;Q9UG56;XP_005261512;XP_005261513;XP_005261514;XP_005261515;XP_005261516;XP_005261517;XP_005261518;XP_005261519;XP_006724262;XP_006724263;XP_006724264;XP_006724265 Hs.420559;Hs.732339 1788600;1798600;1798602;1798690;1798702;1798948;1804122;1806446;1806930;1808092;1812562;1813294;1813592;1825504;1825658;1829442;1834540;1841604;2007446;2007448;2007450;2007452;2007454;2007456;2007458;2007460;2007462;2007464;2007466;2007468;2007470;2007472;2007474;2007476;2007478;2007480;2007482;2007484;2007486;2007488;2007490;2007492;2007494;2007496;2007498;2007500;2007502;2007504;2007506;2007508;2007510;2007512;2007514;2007516;2007518;2007520;2007522;2007524;2007526;2007528;2007530;2007532;2007534;2007536;2007538;2007540;2007542;2007544;2007546;2007548;2007550;2007552;2007554;2007556;2007558;2007560;2007562;2007564;2007566;2007568;2007570;2007572;2007574;2097622;2097624;2097626;2097628;2097630;2097632;2097634;2097636;2097638;2097640;2097642;5016004 ECD00139;ECD00140;ECD00185;ECD00191;ECD00315;ECD02979;ECD04179;ECD04430;ECD05024;ECD07291;ECD07667;ECD07819;ECD13860;ECD13937;ECD15852;ECD18418;ECD21999;MARC3174-3175;Ptdss2;REN74640;REN74641;REN74642;REN74643;REN74644;REN74645;REN74646;REN74647;REN74648;REN74649;REN74650;REN74651;REN74652;REN74653;REN74654;REN74655;REN74656;REN74657;REN74658;REN74659;REN74660;REN74661;REN74662;REN74663;REN74664;REN74665;REN74666;REN74667;REN74668;REN74669;REN74670;REN74671;REN74672;REN74673;REN74674;REN74675;REN74676;REN74677;REN74678;REN74679;REN74680;REN74681;REN74682;REN74683;REN74684;REN74685;REN74686;REN74687;REN74688;REN74689;REN74690;REN74691;REN74692;REN74693;REN74694;REN74695;REN74696;REN74697;REN74698;REN74699;REN74700;REN74701;REN74702;REN74703;REN74704;stSG602166;stSG602167;stSG602168;stSG602169;stSG602170;stSG602171;stSG602172;stSG602173;stSG602174;stSG602175;stSG602176 DJ858B16;DKFZp566G2246;PSD;PSDC;PSSC;dJ858B16.2 OTTHUMP00000063300;OTTHUMP00000063301;OTTHUMP00000194755;phosphatidylserine decarboxylase proenzyme APPROVED protein-coding ENSG00000241878 HGNC:8999 17854 612770 VALIDATED 1603974 PITHD1 PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH cobalt dichloride; copper(2+) sulfate; methyl methanesulfonate 1 1 1 p36.11 22434441 22444284 + 24104876 24114722 + 23778386 23788232 + 6480464;8554872 12477932;16169070;16236267;16344560;19322201;21139048;21890473;21906983;21963094;23000965;24250222;24654937 57095 B4DKP7;Q9GZP4;X6R8S9;X6RHB9 ABBA01059886;AF218024;AF221595;AF271784;AK296662;AK310330;AK313005;AL031295;AMYH02000509;BC017208;CH471134;DB104988;NM_020362;XM_005245943 AAF91232;AAG17266;AAG44795;AAH17208;ABM82845;ABM86029;BAG35841;BAG59259;EAW95074;EAW95075;EAW95076;NP_065095;Q9GZP4;XP_005246000 Hs.31819 1695030;2137697 G44729;SHGC-74385 C1orf128;HT014;RP5-886K2.4;TXNL1CL OTTHUMP00000002997;PITH domain-containing protein 1;TXNL1 C-terminal like;chromosome 1 open reading frame 128 APPROVED protein-coding ENSG00000057757 HGNC:25022 13717 VALIDATED 1317841 PITPNM3 PITPNM family member 3 This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 17 p13 6375097 6480841 - 6354583 6459877 - 6451263 6556557 - 1580863;6480464;7240710;8554872;8699517 10022914;12477932;15627748;17377520;18188949;20590364;21481794;22405330;24001613 83394 A1A5C9;I3L1K1;Q9BZ71 AB209130;ABBA01054828;ABBA01054829;ABBA01054830;ABBA01054831;ABBA01054832;ABBA01054833;ABBA01054834;AC055872;AF334586;AI333030;AK297617;AL389994;AMYH02032873;AMYH02032874;AMYH02032875;BC020484;BC035799;BC128583;BC128584;CH471108;NG_016020;NM_001165966;NM_031220;XM_006721582 AAI28584;AAI28585;AAK01446;BAD92367;BAH12631;CAB97544;EAW90304;EAW90305;NP_001159438;NP_112497;Q9BZ71;XP_006721645 Hs.183983 1670531;1671135;1701620;1729972;1734486;1794896;2111310;2156129 D17S1441E;D17S2057;D17S260;D17S570;D17S600;PMC84020P1;RH104452;RH15958 ACKR6;CORD5;MGC157740;MGC157741;NIR-1;NIR1;PITPnm 3;RDGBA3 OTTHUMP00000128203;PYK2 N-terminal domain-interacting receptor 1;atypical chemokine receptor 6;cone rod dystrophy 5;membrane-associated phosphatidylinositol transfer protein 3;phosphatidylinositol transfer protein, membrane-associated 3;retinal degeneration B alpha 3 APPROVED protein-coding ENSG00000091622 HGNC:21043 07498 600977;608921 REVIEWED 7177454 PITRM1-AS1 PITRM1 antisense RNA 1 10 10 10 3129680 3136633 + 3183793 3190821 + 3141601 3148629 + 12477932;14702039;16344560 100507034 ABBA01035230;AK097545;AL451164;AMYH02022008;BC050332;DB040375;LK938883;LK938885;NR_038284 Hs.665365 ncrna ENSG00000237399 HGNC:44675 VALIDATED 1312467 PITPNC1 phosphatidylinositol transfer protein, cytoplasmic 1 This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012] 17 17 17 q24.2 61946516 62261730 + 65373397 65693379 + 67377281 67697263 + 6480464;8554872 10531358;12401207;12477932;14702039;16189514;17090528;17543578;19060904;21728994;22822086;22865700;23932459;8889548 26207 E7EU35;J3QRS7;J3QS95;Q9UKF7 ABBA01028984;ABBA01028985;ABBA01028986;ABBA01028987;ABBA01028988;ABBA01028989;ABBA01028990;ABBA01028991;ABBA01028992;ABBA01028993;ABBA01028994;ABBA01028995;ABBA01028996;ABBA01028997;ABBA01028998;ABBA01028999;ABBA01029000;AC079331;AC110921;AF171102;AI126821;AK094724;AK290838;AK307138;AMYH02033841;AMYH02033842;AMYH02033843;AMYH02033844;AMYH02033845;AMYH02033846;AMYH02033847;AMYH02033848;AMYH02033849;BC007905;BC037261;BC067095;BE906407;BG504645;BM678261;BU160959;CH471099;NM_012417;NM_181671;XM_005257216 AAF06148;AAH07905;AAH67095;BAF83527;EAW89030;EAW89031;EAW89032;NP_036549;NP_858057;Q9UKF7;XP_005257273 Hs.591185 1335142;1335221;1342030;1669488;1689426;1721409;1759189;2110653;2142200;2156698;2170458;5020124;5127911 D10S1777;D17S1813;D17S1870;G59556;PITPNC1_9470;RH12432;RH70152;RH94363;SHGC-143615;SHGC-151140;SHGC-152196;SHGC-31408;WIAF-2541 M-RDGB-beta;M-rdgB beta;MRDGBbeta;RDGB-BETA;RDGBB;RDGBB1;rdgBbeta cytoplasmic phosphatidylinositol transfer protein 1;mammalian rdgB homolog beta;retinal degeneration B beta 1;retinal degeneration B homolog beta APPROVED protein-coding ENSG00000154217 HGNC:21045 05504 605134 REVIEWED 1322017 PITPNM2 phosphatidylinositol transfer protein, membrane-associated 2 PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008] 12 12 12 q24.31 123060820 123187881 - 123468027 123635376 - 122983480 123110488 - 1580863;6480464;8554872 10022914;10819331;12477932;12522145;15627748;18029348;21507922;23974872 57605 F5H361;F5H664;Q9BZ72;Q9UF51;S4R414 AB040890;ABBA01060436;ABBA01060437;ABBA01060438;ABBA01060439;AC026362;AC073857;AF334585;AK026156;AL133612;AMYH02027444;AMYH02027445;BC025360;BC040063;BC050567;BC141813;CH471054;H25884;NM_001300801;NM_020845;XM_005253582;XM_005253583;XM_005253585;XM_005253586;XM_006719516;XM_006719517;XM_006719518;XM_006719519 AAI41814;AAK01445;BAA95981;CAB63741;EAW98383;EAW98384;EAW98385;EAW98386;NP_001287730;NP_065896;Q9BZ72;XP_005253639;XP_005253640;XP_005253642;XP_005253643;XP_006719579;XP_006719580;XP_006719581;XP_006719582 Hs.272759 1719441;1757127;1767389;1782742;2106775 D12S2067;GC18S01;RH123438;SHGC-144564;SHGC-156254 KIAA1457;NIR-3;NIR3;PITPnm 2;RDGB2;RDGBA2 OTTHUMP00000239612;OTTHUMP00000239613;PYK2 N-terminal domain-interacting receptor 3;membrane-associated phosphatidylinositol transfer protein 2;retinal degeneration B alpha 2 APPROVED protein-coding ENSG00000090975 HGNC:21044 08335 608920 VALIDATED 1315482 PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1 PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008] 11 11 11 q13 64592975 64607245 - 67259231 67272843 - 67491768 67505372 - 1580863;6480464;8554872 10022914;11909959;12077336;12225667;12477932;15125835;15302935;15489334;15545272;15627748;15723057;16344560;17081983;17090528;1903119;21822266;24183667;24885147;9245688;9680295 9600 B2R787;E9PMS0;E9PMZ6;E9PNU6;E9PSD1;O00562 AA465501;ABBA01024030;AF334584;AK126944;AK312886;AMYH02024997;AP001184;AY429102;BC022230;CH471076;DA318858;NM_001130848;NM_004910;X98654 AAH22230;AAK01444;AAR06909;ABM82109;ABW03364;BAG35734;BAG54406;CAA67224;EAW74638;EAW74639;EAW74640;EAW74641;EAW74642;EAW74643;NP_001124320;NP_004901;O00562 Hs.372295 1663930;2117977;2155071;2166988;2191089 MARC_14467-14468:1010602982:1;RH77932;SHGC-34148;WI-13814;WI-22393 DRES9;FLJ44997;NIR-2;NIR2;PITPNM;PITPnm 1;RDGB;RDGB1;RDGBA;RDGBA1;Rd9 OTTHUMP00000236414;OTTHUMP00000236415;PYK2 N-terminal domain-interacting receptor 2;drosophila retinal degeneration B homolog;membrane-associated phosphatidylinositol transfer protein 1;retinal degeneration B alpha 1 APPROVED protein-coding ENSG00000110697 HGNC:9003 07497 608794 VALIDATED 1320550 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010] 19 19 19 p13.3 3567024 3637289 - 3630179 3700484 - 3630181 3700486 - 1580863;6480464;6484113;6907045;7240710;8554872;8699517 10827173;11604140;12422219;12422220;12477932;12682053;12847086;14614850;14701839;15046600;15057824;15611330;16169070;16707488;16880396;17229424;17261850;17290217;17635937;17701898;17928408;18073347;18187620;19548880;19889969;19903820;20074374;20435073;20668706;20972266;21139048;21216957;21303971;21906983;21931851;21963094;21987572;22049025;22053931;22850631;23000965;23572508;23602387;24151076;9535851;9628581 23396 O60331;Q7LE22 AB011161;ABBA01002835;AC004637;AC005542;AC093071;AK301309;AK315912;AMYH02035259;AMYH02035260;BC004149;BC011138;CH471139;DC389567;FJ965536;FJ965537;HY000479;KC877703;NG_012161;NM_001195733;NM_001300849;NM_012398;R46767;XM_005259523;XM_006722712;XR_430133 AAC15471;AAC32904;AAI67798;ACS73483;ACS73484;BAA25515;BAG62861;BAH14283;EAW69295;EAW69296;NP_001182662;NP_001287778;NP_036530;O60331;XP_005259580;XP_006722775 Hs.282177 1681239;2143477;2145948;5491583 MARC_21726-21727:1023205041:3;RH17751;SHGC-12423;WI-15731 KIAA0589;LCCS3;PIP5K-GAMMA;PIP5Kgamma;PIPKIg_v4 Human homolog of mouse phosphatidylinositol-4-phosphate 5-kinase I-gamma;PIP5K1-gamma;PIP5KIgamma;diphosphoinositide kinase;phosphatidylinositol 4-phosphate 5-kinase type I gamma;phosphatidylinositol 4-phosphate 5-kinase type-1 gamma;phosphatidylinositol-4-phosphate 5-kinase type-1 gamma;ptdIns(4)P-5-kinase 1 gamma;type I PIP kinase APPROVED protein-coding ENSG00000186111 HGNC:8996 05834 606102;611369 REVIEWED 1322218 PITRM1 pitrilysin metallopeptidase 1 ENCODES a protein that exhibits metalloendopeptidase activity; INVOLVED IN proteolysis; FOUND IN mitochondrial matrix; mitochondrion; INTERACTS WITH copper(2+) sulfate; paracetamol; 17alpha-ethynylestradiol (ortholog) 10 10 10 p15.2 3125736 3160789 - 3179919 3215033 - 3137727 3172841 - 1580863;6480464 1036083;10360838;10470851;12477932;14702039;15164054;15489334;16341674;16344560;16385451;16849325;18029348;18951430;19196155;19724895;19851296;19962426;20198315;20811636;20877624;21490707;21621546;21750375;21890473;21906983;22939629;24654937;24816145;25027693;8125298;8889549;9733512 10531 B1APQ0;B1APQ1;H0Y4F7;H0Y7L7;Q5JRX3 AA132969;AB029027;ABBA01035230;AF061243;AK001183;AK002061;AK023476;AK225084;AK293788;AK294865;AK299464;AK303406;AK315117;AL117409;AL451164;AMYH02022008;AMYH02022009;BC001150;BC005025;BC045577;BC095422;BC111987;BC113369;BG720390;BI766649;BM737694;BX649017;CB529735;CD692197;CH471072;CR749279;DA331909;NM_001242307;NM_001242309;NM_014889;XM_005252345;XM_006717362;XR_428633 AAC67244;AAH01150;AAH05025;AAH95422;AAI11988;AAI13370;BAA83056;BAG50863;BAG51008;BAG51199;BAG57201;BAG57968;BAG61430;BAG64460;CAH18134;EAW86490;EAW86491;EAW86492;EAW86493;NP_001229236;NP_001229238;NP_055704;Q5JRX3;XP_005252402;XP_006717425 Hs.528300 1725583;1742213;1772865;2108357;2136126;2163119;5022649 D11S2875;G62086;GDB:193844;PFKP_8538;RH15729;SHGC-64843;T15877 KIAA1104;MGC138192;MGC141929;MP1;PreP;hMP1;hPreP OTTHUMP00000018976;PreP peptidasome;metalloprotease 1 (pitrilysin family);pitrilysin metalloproteinase 1;presequence protease, mitochondrial protein-coding ENSG00000107959 HGNC:17663 07142 VALIDATED 731390 PITX2 paired-like homeodomain 2 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 4 4 4 q25 108832403 108852329 - 111538579 111563279 - 110617423 110642123 - 737814;1580863;5131995;5131997;6480464;6907045;7240710;8554872;8699517 10499585;17982271;20926632 10051017;10372733;11157981;11487566;11763998;11774072;11821690;11948188;12130547;12223489;12381896;12464179;12477932;12612071;12732450;1303248;14630904;14975719;14985297;15255117;15342556;15385555;15466416;15489334;15591271;15728254;15895993;16274491;16449236;16498627;16638984;16834779;16876867;16884686;16936096;17065505;17167399;17197537;17486624;17558846;17603472;17850355;17965955;18312615;18331556;18339718;18616618;18711169;18775326;18946986;19052653;19174163;19218601;19233404;19251162;19513095;19597492;19801652;19913121;19954729;20022124;20170812;20173747;20211142;20301552;20332099;20372070;20478579;20628086;20634891;20875405;20881290;20881294;20978111;21221769;21278591;21282332;21414601;21427120;21479692;21498098;21511879;21531708;21574119;21617755;21803613;21810944;21837767;22224469;22495974;22544366;22555092;22569110;22615897;22735262;23041239;23042660;23088713;23132660;23229549;23354914;23505501;23913021;23983605;24002705;24003428;24083357;24162257;24250222;24262325;24333117;24390743;24486544;24927531;7581385;8942889;8944018;9437321;9539779;9618168;9685346;9708732 5308 A8MUL9;D6RBG8;D6RFI4;Q99697;U3KQ81 ABBA01063799;AC017068;AF048720;AF048721;AF048722;AF238048;AK127829;AK291591;AK313987;AMYH02009912;BC013998;BC106010;BP372081;BX380370;CH471057;JC342807;NG_007120;NM_000325;NM_001204397;NM_001204398;NM_001204399;NM_153426;NM_153427;U69961;XM_006714235 AAC16257;AAC39716;AAC39717;AAC39718;AAH13998;AAI06011;AAK15048;ABM84352;ABM87740;BAF84280;BAG36699;BAG54582;CDM63602;EAX06262;EAX06263;EAX06264;NP_000316;NP_001191326;NP_001191327;NP_001191328;NP_700475;NP_700476;Q99697;XP_006714298 Hs.643588;Hs.738484 1672381;1796516;2151576;5095088 D4S3305;PITX2_380;Pitx2;SHGC-50188 ARP1;Brx1;IDG2;IGDS;IGDS2;IHG2;IRID2;MGC111022;MGC20144;Otlx2;PTX2;RGS;RIEG;RIEG1;RS ALL1-responsive protein ARP1;OTTHUMP00000163734;OTTHUMP00000163735;OTTHUMP00000163736;OTTHUMP00000163737;OTTHUMP00000163738;OTTHUMP00000219750;OTTHUMP00000219751;all1-responsive gene 1;homeobox protein PITX2;paired-like homeodomain transcription factor 2;pituitary homeo box 2;pituitary homeobox 2;rieg bicoid-related homeobox transcription factor 1;solurshin APPROVED protein-coding ENSG00000164093 HGNC:9005 03328 137600;180500;180550;601542;604229 REVIEWED 1315877 PIWIL2 piwi-like RNA-mediated gene silencing 2 PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008] 8 8 8 p21.3 21095224 21174910 + 22132810 22215560 + 22275297 22357568 + 1580863;6480464;8554872 11279525;12477932;12906857;14702039;14736746;15489334;16377660;19683485;20460541;20490325;20846497;20940137;21575418;22110608;22303479;22748119;22848678;23104504;23112866;23292864;23505323;23992744;24077852;24153179;24524831 55124 Q8TC59;W0HK13 AB079367;ABBA01005510;ABBA01005511;AC105206;AC105910;AK000397;AK001213;AK027497;AK056418;AK291038;AK292440;AK299068;AK315830;AK315833;AMYH02017590;AMYH02017591;AMYH02017592;AMYH02017593;BC025995;BC111751;CH471080;DC403636;HQ651229;KF651165;KJ534584;NM_001135721;NM_018068;XM_005273550;XM_005273551 AAH25995;AAI11752;ABZ92523;ADV17663;AHF72552;AHZ89834;BAA91558;BAB55155;BAC81342;BAF83727;BAF85129;BAF98721;BAF98724;BAG61134;EAW63686;NP_001129193;NP_060538;Q8TC59;XP_005273607;XP_005273608 Hs.614809 1749159;1786730;2107509;5022651;5037552;5109281 D11S2921;D1S1425;D8S2279;PIWIL2__7002;SHGC-110848;SHGC-155028 CT80;FLJ10351;HILI;MGC133049;PIWIL1L;mili Hiwi-like;Miwi like;OTTHUMP00000123401;OTTHUMP00000224868;OTTHUMP00000224869;cancer/testis antigen 80;piwi-like 2;piwi-like protein 2;piwil2-like protein APPROVED protein-coding ENSG00000197181 HGNC:17644 11434 610312 VALIDATED 1351572 PIWIL3 piwi-like RNA-mediated gene silencing 3 This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 22 22 22 q11.23 8919401 8975139 - 25115001 25170687 - 24719034 24774720 - 12477932;12906857;18616918;20940137 440822 B4DYF7;E9PIP6;Q7Z3Z3 AB079368;ABBA01055151;ABBA01055152;ABBA01055153;AK302409;AK315806;AMYH02038146;AP000358;AP000359;BC144693;BC144696;CH471095;NM_001008496;NM_001255975;NR_045648;NR_045649 AAI67797;BAC81343;BAG63719;EAW59679;NP_001008496;NP_001242904;Q7Z3Z3 Hs.448343 HIWI3 OTTHUMP00000198494;OTTHUMP00000235445;OTTHUMP00000235446;piwi-like 3;piwi-like protein 3 APPROVED protein-coding ENSG00000184571 HGNC:18443 17855 610314 VALIDATED 1353522 PJA1 praja ring finger 1, E3 ubiquitin protein ligase This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked mental retardation disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X X q13.1 68733493 68738277 - 68380581 68385365 - 69160738 69165522 - 1580863;6480464;8554872 10722742;11959851;12036302;12477932;14702039;15489334;15772651;16096365;16169070;16196087;16247473;16344560;17941886;18029348;18729074;19690564;20864041;20972266;21139048;21461837;21513699;21890473;21903422;22053931;22544753;22626734;23688634;24250222;9393880 64219 K7EPI8;K7EPW5;Q8NG27 ABBA01067431;AF262024;AF264620;AK021892;AK096611;AK226171;AK290543;AK293266;AK294632;AL157699;AMYH02039647;BC039149;BC048323;BC058327;BC075803;BC105051;BC105053;BC113035;BM127146;CH471132;DA778001;DC349747;NG_021258;NM_001032396;NM_022368;NM_145119;XM_005262292 AAH48323;AAH75803;AAI05052;AAI05054;AAI13036;AAM53039;AAM53040;ABZ92524;BAB13928;BAF83232;BAG53338;BAG56796;BAG57811;EAX05367;EAX05368;EAX05369;NP_001027568;NP_071763;NP_660095;Q8NG27;XP_005262349 Hs.522679 2117979;2142496;5106112 A004I18;PJA1;WI-14304 PRAJA1;RNF70 E3 ubiquitin-protein ligase Praja-1;OTTHUMP00000023457;OTTHUMP00000023458;OTTHUMP00000158770;OTTHUMP00000158771;RING finger protein 70;praja 1 APPROVED protein-coding ENSG00000181191 HGNC:16648 02335 300420 REVIEWED 733838 PITX1 paired-like homeodomain 1 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 130487209 130493751 - 134363424 134369964 - 135027734 135034274 - 1580863;6480464;7240710;8554872;8699517 10082522;10369682;10372733;11048804;12223489;12477932;12620797;12915995;15231747;15372022;15489334;15960973;16189514;16291394;17043312;17081983;17549029;17762884;17984056;18029348;18053270;18186570;18339718;18391951;18950742;19414376;20054692;20498720;20563669;20634891;20881960;21300782;21323949;21425961;21868451;22258522;22438068;22658931;23022097;23206257;23263487;23395106;23563607;23568457;23587911;23666240;24722188;8755540;9070926;9186059;9337397;9343431 5307 D6R955;D6R9U1;H0YJC8;P78337;X5D9A5 ABBA01068730;AC004764;AC008406;AF009648;AF009649;AF009650;AK290635;AL578756;AMYH02012253;BC003685;BC009412;BX362641;CH471062;CS278249;KJ534918;NG_012114;NM_002653;U70370 AAB65251;AAC17733;AAC51126;AAH03685;AAH09412;ABZ92176;ADZ15649;AHW56558;BAF83324;CAJ86537;EAW62226;EAW62227;NP_002644;P78337 Hs.84136 5492318 Pitx1 BFT;CCF;LBNBG;POTX;PTX1 OTTHUMP00000159412;OTTHUMP00000223125;hindlimb expressed homeobox protein backfoot;hindlimb-expressed homeobox protein backfoot;homeobox protein PITX1;paired-like homeodomain transcription factor 1;pituitary homeo box 1;pituitary homeobox 1;pituitary otx-related factor APPROVED protein-coding ENSG00000069011 HGNC:9004 03688 119800;186550;602149 REVIEWED 733552 PJA2 praja ring finger 2, E3 ubiquitin protein ligase ENCODES a protein that exhibits protein kinase A catalytic subunit binding; protein kinase A regulatory subunit binding; ubiquitin-protein transferase activity; INVOLVED IN protein ubiquitination; regulation of protein kinase A signaling; long-term memory (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; plasma membrane; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; cyclosporin A 5 5 5 q21.3 104609971 104684311 - 108670410 108745675 - 109334709 109409974 - 6480464;8554872 11959851;12036302;12477932;15342556;15489334;16196087;17081983;18775313;18781797;19322201;19615732;19690564;20972266;21139048;21145461;21423175;21890473;21906983;21963094;21987572;22505724;22895009;22948757;23000965;23443559;23652010;23931849;24816145;7623148;8889548;9393880;9455477 9867 O43164 AB007898;ABBA01069090;ABBA01069091;ABBA01069092;AC008467;AC010625;AK291759;AMYH02011951;AMYH02011952;AMYH02011953;BC030826;BM469517;BM681899;BP301854;BQ228553;CH471086;CR749579;NM_014819 AAH30826;BAA23710;BAF84448;CAH18371;EAW49050;EAW49051;NP_055634;O43164 Hs.483036 1739065;1854378;2159980;2172085;5017712 1690;D5S1782;PJA2;RH47663;WI-13465 KIAA0438;Neurodap1;RNF131;praja2 E3 ubiquitin-protein ligase Praja-2;OTTHUMP00000158944;praja 2, RING-H2 motif containing;protein carrying the ring-h2 sequence motif;ring finger protein 131 APPROVED protein-coding ENSG00000198961 HGNC:17481 11436 VALIDATED 732297 PITX3 paired-like homeodomain 3 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008] 10 10 10 q24.32 97730869 97742153 - 103989946 104001231 - 102230189 102241474 - 737764;1580863;6480464;7240710;8699517;8554872 9620774 11994226;12477932;15286169;15489334;16272057;16477036;16565358;16636655;17017509;17888164;17905480;18420308;18989383;19058789;19144721;19204726;19345444;19394114;20301552;20376326;20468068;20570600;21138504;21368136;21469209;21524731;21565251;21633712;21836522;22037506;22103961;22223473;22309633;22411443;22429667;23694789;24394914;6801987 5309 O75364 ABBA01063164;AF041339;AL160011;AMYH02023689;AMYH02023690;BC011642;CH471066;NG_008147;NM_005029 AAC24502;AAH11642;ABM82871;ABM86057;ABM86058;EAW49709;EAW49710;NP_005020;O75364 Hs.137568 1729069;1729071;1758137;5492029 D1Bda64;Pitx3;SHGC-147498;UniSTS:144187 ASMD;ASOD;CTPP4;CTRCT11;MGC12766;PTX3 OTTHUMP00000020362;homeobox protein PITX3;pituitary homeobox 3 APPROVED protein-coding ENSG00000107859 HGNC:9006 04051 107250;602669;610623 REVIEWED 1352736 PKD1L1 polycystic kidney disease 1 like 1 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 p12.3 47912632 48087291 - 47814250 47988071 - 47774652 47964565 - 1580863;6480464;8554872 11863367;12411743;12975309;14702039;15146197;15203210;20379614;22841784 168507 H7C083;Q8TDX9 AB061683;ABBA01041081;ABBA01041082;ABBA01041083;ABBA01041084;AC019066;AC069282;AI860869;AMYH02015660;AMYH02015661;AMYH02015662;AMYH02015663;AY358757;BF062285;CH236958;CH471128;CN283529;KF511038;NM_138295;XM_006715652 AAQ89117;BAB85807;EAW61003;EAW61004;EAW61005;EAW61006;EAW61007;NP_612152;Q8TDX9;XP_006715715 Hs.195979 1717845;1731918;1786282;1790587;1856759;2107513;2132177;2169465 D7S1896;D7S808;GDB:1318188;GDB:1318575;HSC212_(7Gr476mb);PKD1L1__7005;RH121834;SHGC-148821 PRO19563 OTTHUMP00000208382;PC1-like 1 protein;polycystic kidney disease protein 1-like 1;polycystin-1L1 APPROVED protein-coding ENSG00000158683 HGNC:18053 10154 609721 REVIEWED 1315902 PIWIL1 piwi-like RNA-mediated gene silencing 1 This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 12 12 12 q24.33 130436876 130471363 + 130822433 130856877 + 130337888 130372334 + 6480464;8554872 11154219;12037681;12477932;12906857;14702039;14749716;15489334;16287078;16344560;16953229;17544373;18781170;19047128;19138993;19995427;20204292;20308539;20502058;20732906;20940137;21138738;21327579;21465557;21906983;21933617;21989785;22235650;22261620;22438986;22591718;22670175;23868705;24509249;24524831;24532429;24602614;9851978 9271 F5GYG0;F5GZL9;F5H2F7;F5H3U6;F5H889;Q96J94 AB274731;ABBA01019808;ABBA01019809;ABBA01019810;AC127071;AC217627;AF104260;AF264004;AF387507;AK093133;AMYH02027552;AMYH02027553;BC028581;BG718140;CH471054;DB072454;DB527532;HC007214;HC044523;NM_001190971;NM_004764;XM_005253632;XM_006719698 AAC97371;AAH28581;AAK69348;AAK92281;ADZ16040;BAC04068;BAF49084;CBH19412;CBH30591;EAW98509;EAW98510;EAW98511;NP_001177900;NP_004755;Q96J94;XP_005253689;XP_006719761 Hs.405659 1697532;2108371;5022708 PIWIL1;PIWIL1_8920;RH102272 CT80.1;HIWI;MIWI;PIWI OTTHUMP00000238660;piwi homolog;piwi-like protein 1 APPROVED protein-coding ENSG00000125207 HGNC:9007 10409 605571 REVIEWED 1322245 PIWIL4 piwi-like RNA-mediated gene silencing 4 PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008] 11 11 11 q21 91588283 91642396 + 94279876 94354587 + 94567308 94621421 + 1580863;6480464;8554872 12414724;12477932;12906857;14702039;14749716;15489334;16344560;17544373;18846501;20146808;20379614;20721975;20940137;21890473;22483988;22748119;24509249 143689 F5GX26;F5H116;Q7Z3Z4 AB079366;ABBA01040025;ABBA01040026;AF086344;AK093475;AK096837;AK293616;AMYH02025373;AP000943;BC031060;CH471065;CR749642;DB091271;KF455451;NM_152431 AAH31060;ABM82166;ABM85351;BAC04179;BAC04873;BAC81341;BAG57076;CAH18436;EAW66940;EAW66941;NP_689644;Q7Z3Z4 Hs.660188 1680423;1737851;2123350;5023469 D11S3455;G02226;RH94119;SHGC-57612 DKFZp686P01248;FLJ36156;HIWI2;MIWI2 OTTHUMP00000236923;piwi-like 4;piwi-like protein 4 APPROVED protein-coding ENSG00000134627 HGNC:18444 11435 610315 VALIDATED 1349855 PKD1P2 polycystic kidney disease 1 (autosomal dominant) pseudogene 2 16 16 16 p13.11 1 2113 + 16450274 16471364 + 16356417 16377507 + 10493829;11414761;8004675 283955 AC138969;AC244489;NG_002795 HG2 pseudo HGNC:30066 INFERRED 1348862 PKD1P1 polycystic kidney disease 1 (autosomal dominant) pseudogene 1 INTERACTS WITH cadmium atom; zinc atom; zinc(0) 16 16 p13.11 16411466 16444465 + 16317609 16350608 + 6480464 10493829;11042152;11414761;12477932;15489334;8004675 339044 Q6ZVJ0 AC136619;AC137803;AC138969;AC244489;AF229069;AK124516;AK126798;AK294825;AK298381;AK304604;AK304826;BC008178;BC010188;BC039707;BC046145;KF175174;KF175210;KF175214;KF175219;NR_036447 AAF82267;AAH39707;AAH46145;AHY28881;BAC85871;BAC86699;BAG57937;BAG60617;BAG65390;BAG65574;E9PJI5 Hs.636569;Hs.720303 5124491 Cda0uf06 FLJ00322;FLJ42525;FLJ44848;FLJ56775;FLJ56871;FLJ59085;HG1;KIAA0220;MGC47688;NPIP pseudo HGNC:30065 VALIDATED 1346369 PKD1P3 polycystic kidney disease 1 (autosomal dominant) pseudogene 3 16 16 p13.11 15005334 15029565 + 14911477 14935708 + 10493829;11414761;8004675 339039 AC138932;AC243791;AF320593;NG_002796 HG3 pseudo HGNC:30067 INFERRED 1344535 PKD1P4 polycystic kidney disease 1 (autosomal dominant) pseudogene 4 16 16 p13.12 18428257 18446140 - 18334400 18352283 - 10493829;11414761;8004675 353512 AC126755;AF320594;NG_002800 HG4 pseudo HGNC:30068 INFERRED 1353134 PKD1P5 polycystic kidney disease 1 (autosomal dominant) pseudogene 5 16 16 16 p12.3 1 2113 + 18468378 18495871 - 18374521 18402014 - 10493829;11414761;8004675 348156 AC126755;AMYH02031591;AMYH02031592;AMYH02031593;AMYH02031594;NG_002798 HG5 pseudo HGNC:30069 INFERRED 1347986 PKD1P6 polycystic kidney disease 1 (autosomal dominant) pseudogene 6 16 16 16 p13.13 15087641 15091342 - 15218997 15248382 - 15125140 15154525 - 10493829;11414761;8004675 353511 AC139256;AK302708;NR_123722 BAG63930 Hs.634612 HG6 pseudo HGNC:30070 VALIDATED 1317476 PKD1L3 polycystic kidney disease 1-like 3 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] 16 16 16 q22.2 56277357 56347989 - 71963441 72033877 - 71929538 71999978 - 1580863;6480464 12782129;17353931;18951430;19056867;19812697;20379614;20406802;21883212;23212381 342372 Q7Z443 ABBA01016792;ABBA01016793;ABBA01016794;ABBA01016795;ABBA01016796;AC009127;AMYH02032329;AMYH02032330;AMYH02032331;AMYH02032332;AMYH02032333;AY164485;CH471166;JA738631;KF459693;NG_032958;NM_181536 AAO32798;CCF76968;EAW59202;EAW59203;EAW59204;NP_853514;Q7Z443 Hs.675286 1648169;1671291;1676085;1739903;2119044;2164203 D16S2946;D19S846;NIB727;RH91143;SHGC-60641;SHGC-60677 PC1-like 3 protein;polycystic kidney disease protein 1-like 3;polycystin-1L3 APPROVED protein-coding ENSG00000277481 HGNC:21716 07436 607895 REVIEWED 1351087 PKD3 polycystic kidney disease 3 (autosomal dominant) ASSOCIATED WITH Polycystic Kidney, Autosomal Dominant (inferred) 7240710 1974020 5312 HGNC:9013 600666 1605897 PKDCC protein kinase domain containing, cytoplasmic ENCODES a protein that exhibits non-membrane spanning protein tyrosine kinase activity; protein kinase activity (ortholog); INVOLVED IN peptidyl-tyrosine phosphorylation; embryonic digestive tract development (ortholog); lung alveolus development (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region; Golgi apparatus (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; acetaldehyde 2 2 2 p21 42114692 42125199 + 42275161 42285668 + 42048021 42058528 + 6480464;8554872 12471243;12477932;15489334;16341674;16344560;19097194;19465597;19961619;20379614;22504420;24407380;8889548 91461 F8WB71;Q504Y2 ABBA01075056;ABBA01075057;ABBA01075058;AC013480;AK311155;AMYH02003667;BC007901;BC062988;BC094697;BC110513;BC110514;BM738316;BQ013425;CF131963;CH471053;DB231841;DB457034;NM_138370 AAH07901;AAH62988;AAH94697;AAI10514;AAI10515;EAX00325;EAX00326;NP_612379;Q504Y2 Hs.408542 1649995;1778359 A004O39;WI-15430 FLJ18197;MGC125960;SGK493;Vlk OTTHUMP00000201435;protein kinase domain containing, cytoplasmic homolog;protein kinase domain-containing protein, cytoplasmic;protein kinase-like protein SgK493;sugen kinase 493;vertebrate lonesome kinase APPROVED protein-coding ENSG00000162878 HGNC:25123 18707 614150 VALIDATED 736706 PKD1 polycystic kidney disease 1 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008] 16 16 16 p13.3 2350824 2400282 - 2138709 2185899 - 2088708 2135898 - 1580867;1601399;1580863;6480464;7175279;7175280;7240710;8554872;8699517 12842373;21115670;23064367;8554072 10097141;10200984;10339594;10364515;10493829;10577909;10647901;10729710;10770959;10854095;10861291;10923040;10987650;11012875;11058904;11106764;11113628;11115377;11140688;11216660;11274246;11316854;11406351;11414761;11571556;11581269;11691639;11698076;11728985;11752017;11836366;11857740;11891195;11901144;11912216;11961010;12007403;12048202;12220456;12482949;12665801;12819240;12946628;14596619;14718571;15001556;15060061;15087466;15146197;15231748;15284290;15326289;15382167;15466861;15548533;15563610;15623513;15692563;15738054;15748886;1577479;15780076;15870383;16014040;16038619;16215947;16219758;16311606;16319969;16565258;16741147;16767665;16778383;16790429;17081983;17090781;17102641;17110338;17371830;17396115;17437137;17437318;17451746;17474147;17525154;17540339;17574468;17671167;17890878;17980165;18060739;18263686;18283041;18289888;18298949;18417541;18422703;18566106;18632682;18791038;18922886;19011111;19135240;19158352;19158373;19165178;19194729;19285554;19331813;19443633;19460752;19686598;19759016;19854836;20169078;20201926;20206434;20219615;20301424;20301743;20388565;20557879;20558538;20674666;20808796;20837139;20856870;20923779;20937836;20980620;21048031;21076887;21142036;21314639;21332816;21694639;21775626;21865467;21867693;21983717;22031115;22034075;22034641;22227580;22237240;22367170;22409330;22426824;22456092;22508176;22570239;22582392;22675472;22872635;23001567;23014991;23390129;23431072;23431742;23439951;23475492;23496908;23567275;23624871;23848298;23850273;23985799;24009235;24189120;24250222;24416790;24683199;24694054;24907393;2821260;7581371;7633406;7663510;7736581;7894481;8004675;8643665;8765322;8792818;8981910;9150733;9171830;9177229;9192675;9199561;9259200;9285784;9326937;9345095;9521593;9889186;9921908 5310 H3BQF4;H3BSE8;H3BSE9;H3BTE0;H3BTG3;H3BV77;I3L4N0;P98161 AB209025;AB209675;ABBA01030273;ABBA01030274;ABBA01030275;AC005600;AC009065;AC093513;AK309422;AMYH02031242;AMYH02031243;AMYH02031244;AMYH02031245;CH471112;CN268814;L33243;L39891;L43619;NG_008617;NM_000296;NM_001009944;U24497;XM_005255370;XM_006720889;XM_006720890;XM_006720891;XM_006720892;XM_006720893;XM_006720894;XM_006720895;XR_429642;XR_429643 AAB59488;AAC34211;AAC37576;AAC41765;AAC50128;BAD92262;BAD92912;EAW85553;EAW85554;EAW85555;NP_000287;NP_001009944;P98161;XP_005255427;XP_006720952;XP_006720953;XP_006720954;XP_006720955;XP_006720956;XP_006720957;XP_006720958 Hs.75813 1657305;1728949;1743957;1745605;1745797;1775147;2111492;2112836;2116992;2131219;2157424;5023541;5094678 D10Bir17;D16S3252;D16S3361;D16S3394;GDB:378419;GDB:626063;GDB:641995;PMC356914P1;PMC356914P2;RH68414;SHGC-30026;STS-L48546;STS-U24497 PBP;Pc-1;TRPP1 OTTHUMP00000208669;OTTHUMP00000208670;autosomal dominant polycystic kidney disease 1 protein;polycystic kidney disease 1 homolog;polycystic kidney disease-associated protein;polycystin 1;polycystin-1;transient receptor potential cation channel, subfamily P, member 1 APPROVED protein-coding ENSG00000008710 HGNC:9008 03203 173900;601313 REVIEWED 1353787 PKD2 polycystic kidney disease 2 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011] 4 4 4 q22.1 86220746 86290863 + 88928799 88998931 + 88007647 88077779 + 1580867;1580868;1580863;6480464;7175273;7175279;7175293;7240710;8554872;8699517 12089381;12454224;12842373;21115670;22863349 10097141;10411676;10541293;10760273;10770959;10835625;10913159;11076863;11252306;11438989;11698076;11854751;11891195;11901144;11991947;12477932;12525172;12527301;12707387;12809519;12946628;14993477;15001556;15123714;15130895;15194699;15300626;15337773;15382167;15489334;15692563;15717641;15780076;15843396;16025301;16038619;16192288;16215947;16223735;16278216;16311606;16319969;16551655;17008358;17081983;17204494;17217069;17283055;17292589;17303584;18048422;18256307;18273441;18417208;18552856;18664456;18694932;18701462;18721488;18725310;18727244;18754774;18755075;19056867;19098310;19158352;19158373;19193631;19194729;19265036;19443633;19491093;19546223;19569180;19783969;19801576;19812035;19821056;19850920;19854836;19913121;19936001;20089835;20168298;20206434;20219615;20301424;20301743;20361981;20379614;20408813;20439752;20557879;20628086;20682256;20833712;20881056;20934246;20980620;21044049;21474446;21490950;21527521;21622852;21719175;21727210;21906983;21983717;22034641;22114106;22204817;22367170;22456092;22474326;22508176;22609445;22797727;22797919;22802962;23064961;23212942;23376035;23390129;23503467;23567275;23838289;23848298;23985799;24009235;24011172;24558196;24694054;8298643;8619474;8650545;8954772;9110174;9171830;9175744;9192675;9286709;9326320;9402976;9529618;9573526;9949210 5311 B4DFN3;Q13563;Q9UEU6 ABBA01063543;AC084732;AF004873;AF054992;AF113693;AK293461;AK294173;AK294589;AMYH02009686;AW600307;BC112261;BC112263;BQ574566;CH471057;NG_008604;NM_000297;U50928;U56813;XR_244632 AAC09351;AAC16004;AAC50520;AAC50933;AAI11455;AAI12262;AAI12264;BAG56956;BAG57494;BAH11820;EAX06011;NP_000288;Q13563 Hs.181272 1665673;1720817;1728677;1749873;1764667;1769018;1773424;1774829;1797988;2115786;2121357;2149464;2164233 D4S2796;G59384;G63630;PKD2_477;SHGC-111600;SHGC-148257;SHGC-24101;SHGC-50276;SHGC-67224;SHGC-67606;SHGC-67908;SHGC-8591;STS-R48232 APKD2;MGC138466;MGC138468;PC2;PKD4;Pc-2;R48321;TRPP2 OTTHUMP00000161169;autosomal dominant polycystic kidney disease type II protein;polycystic kidney disease 2 protein;polycystin-2;polycystwin;transient receptor potential cation channel, subfamily P, member 2 APPROVED protein-coding ENSG00000118762 HGNC:9009 01437 173910;613095 REVIEWED 1314779 PKD2L1 polycystic kidney disease 2-like 1 This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 q24 95785781 95828122 - 102047903 102090243 - 100288146 100330486 - 1580863;6480464;8554872 10097141;10517637;10602361;10602992;11698076;11805156;11959145;12477932;12525172;12809519;15489334;16385451;16537653;17944866;19812697;20406802;20408813;21886157;22174419;22193359;22359512;22794107;23251661;23362303;9748274;9878261 9033 E9PRD1;H0YDN7;H0YET4;Q1L4F0;Q9P0L9 ABBA01063228;AF053316;AF073481;AF092170;AF094827;AF153459;AF153474;AL139819;AMYH02023651;AMYH02023652;BC025665;CH471066;DQ084244;NM_001253837;NM_016112 AAD08695;AAD16101;AAD41638;AAD51859;AAF28108;AAH25665;AAZ31363;ABM82480;ABM85667;EAW49833;EAW49834;NP_001240766;NP_057196;Q9P0L9 Hs.159241 1335109;7183757 D10S603 PCL;PKD2L;PKDL;TRPP3 OTTHUMP00000020283;polycystic kidney disease (polycystin)-like;polycystic kidney disease 2-like 1 protein;polycystin-2 homolog;polycystin-2L1;polycystin-L;polycystin-L1;transient receptor potential cation channel, subfamily P, member 3 APPROVED protein-coding ENSG00000107593 HGNC:9011 16063 604532 REVIEWED 1321074 PKD2L2 polycystic kidney disease 2-like 2 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH lead(0); lead(2+); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 5 5 5 q31 133347422 133398422 + 137225125 137276156 + 137889436 137940467 + 1580863;6480464;8554872 10602361;10756092;11698076;11959145;12477932;24250222 27039 D6RBX8;D6RF71;Q9NZM6 ABBA01068702;AC106753;AC106791;AF118125;AF182034;AK301924;AMYH02012278;BC034619;BC038714;BC044581;BG719682;BG721989;CH471062;NM_001258448;NM_001258449;NM_001300921;NM_014386;XM_005271960;XM_006714586 AAD46478;AAF65622;AAH44581;BAG63344;EAW62174;EAW62175;EAW62176;NP_001245377;NP_001245378;NP_001287850;NP_055201;Q9NZM6;XP_005272017;XP_006714649 Hs.716884 1699148;1699486;2114522;2127533;2185610;5016781 RH103150;RH103336;RH67872;SHGC-67307;STS-H99220;STS-H99814 TRPP5 OTTHUMP00000223500;OTTHUMP00000223501;OTTHUMP00000223504;OTTHUMP00000227672;polycystic kidney disease 2-like 2 protein;polycystin-2L2;polycystin-L2 protein-coding ENSG00000078795 HGNC:9012 05238 604669 VALIDATED 1343423 PKD1L2 polycystic kidney disease 1-like 2 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 16 16 16 q23.2 65432531 65551310 - 81134484 81253975 - 81100879 81220370 - 1580863;6480464;8554872 11572484;12477932;12782129;14702039;15203210;16344560;18187620;18951430;19578180;19844255 114780 H0YEQ7;Q7Z442 AB067466;ABBA01016973;ABBA01016974;ABBA01016975;ABBA01016976;ABBA01016977;ABBA01016978;ABBA01016979;ABBA01016980;ABBA01016981;ABBA01016982;ABBA01016983;ABBA01016984;ABBA01016985;AC092718;AC131888;AK098052;AK127266;AK131378;AL832135;AMYH02032504;AMYH02032505;AMYH02032506;AW082870;AY164483;AY371495;BC004562;BC014120;BC014157;CH471114;CR627341;DA326413;DB306292;HY047655;KF459692;NG_033236;NM_001076780;NM_001278423;NM_001278425;NM_052892 AAH04562;AAH14120;AAH14157;AAI72587;AAO32796;AAQ73173;ADZ15353;BAB67772;BAC05222;BAC86906;BAD18529;CAH10372;EAW95539;EAW95540;EAW95541;EAW95542;EAW95544;NP_001070248;NP_001265352;NP_001265354;NP_443124;Q7Z442 Hs.413525 1765473;1766613;5015861;5015961;5020881;5022200;5022463;5022578;5022651;5109281;7185938 D10S16;D11S2921;D15S1477;D1S1423;D1S1425;D3S1673;L17709;L18426;SHGC-148958;SHGC-149916 DKFZp686J19100;FLJ45333;PC1L2 OTTHUMP00000231957;OTTHUMP00000231959;OTTHUMP00000231961;PC1-like 2 protein;polycystic kidney disease protein 1-like 2;polycystin-1L2 APPROVED protein-coding ENSG00000166473;ENSG00000279890 HGNC:21715 06990 607894 REVIEWED 1350390 PKIG protein kinase (cAMP-dependent, catalytic) inhibitor gamma This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 q12-q13.1 39869083 39956320 + 43160422 43247678 + 44531781 44619037 + 1580863;6480464 10880337;11549316;11742798;11780052;11978406;12477932;15146197;16870489;17353931;19913121;20628086;9218452 11142 Q549H9;Q5H937;Q9Y2B9 AA463287;AB019517;ABBA01052643;ABBA01052644;ABBA01052645;AF115966;AF182032;AI140360;AK309209;AK312048;AMYH02037136;AMYH02037137;BC104256;BC104257;BF569812;BG388302;BG717090;BI461377;BQ010165;BU161358;CD244921;CH471077;CN354542;DN994035;NM_001281444;NM_001281445;NM_007066;NM_181804;NM_181805;Z97053 AAD55445;AAI04257;AAI04258;AAP97238;BAA77336;BAG34984;EAW75908;EAW75909;EAW75910;EAW75911;EAW75912;EAW75913;EAW75914;NP_001268373;NP_001268374;NP_008997;NP_861520;NP_861521;Q9Y2B9 Hs.472831 1342227;1643850;1666238;1700040;1742365;2109663;2114605 D20S1067;D20S824;D20S911;GDB:196484;PKIG_9227;RH103632;Z94608 MGC126458;MGC126459;PKI-gamma OTTHUMP00000031722;OTTHUMP00000031723;OTTHUMP00000063215;OTTHUMP00000063216;OTTHUMP00000063217;OTTHUMP00000063219;cAMP-dependent protein kinase inhibitor gamma APPROVED protein-coding ENSG00000168734 HGNC:9019 05379 604932 REVIEWED 1315287 PKDREJ polycystin (PKD) family receptor for egg jelly This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008] 22 22 22 q13.31 30558945 30566604 - 46651560 46659277 - 46255663 46263322 - 1580863;6480464;8554872 10591208;10602361;11698076;12477932;17564962;22889411;9949214 10343 Q9NTG1 ABBA01010443;ABBA01010444;AF116458;AL031034;AL078611;AL137288;AMYH02038535;AMYH02038536;BC027601;CH471138;EF517278;NM_006071;Z93024 AAD18021;ABR22603;CAB70680;EAW73411;NP_006062;Q9NTG1 Hs.241383 2110655;2150388 AL022480;PKDREJ__7006 OTTHUMP00000197569;PKD and REJ homolog;polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like;polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like;polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin);polycystic kidney disease and receptor for egg jelly-related protein APPROVED protein-coding ENSG00000130943 HGNC:9015 05239 604670 REVIEWED 731267 PKIA protein kinase (cAMP-dependent, catalytic) inhibitor alpha The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 8 8 8 q21.12 75432064 75519215 + 79428336 79517502 + 78516101 78605267 + 6480464 10026146;11978406;12477932;12798691;15489334;1710219;1770951;1862343;20195357;20451256;20485264;21833088;22219177;22504420;22833565;2434500;2989819;3456605;7836431;7905001;8027074;8805303 5569 P61925 AA644101;ABBA01004086;AC068700;AF234641;AK311857;AMYH02018270;AMYH02018271;BC022265;BI597731;BX419914;CH471068;CR457052;CR744438;DB480496;DR763580;NM_006823;NM_181839;S76965 AAB21141;AAF40206;AAH22265;ABM84135;ABM87536;BAG34798;CAG33333;EAW87055;EAW87056;EAW87057;EAW87058;NP_006814;NP_862822;P61925 Hs.433700;Hs.732129 1655753;1735760;1735780;1771978;2109661;2149640;2159959;2175488;2177812;2180395 D8S1370E;D8S1392E;D8S1600;D8S2037;G15931;G32142;PKIA_3847;RH18448;RH70239;T16091 PRKACN1 OTTHUMP00000227039;OTTHUMP00000227040;PKI-alpha;cAMP-dependent protein kinase inhibitor alpha;cAMP-dependent protein kinase inhibitor, muscle/brain isoform APPROVED protein-coding ENSG00000171033 HGNC:9017 05828 606059 REVIEWED 736855 PKIB protein kinase (cAMP-dependent, catalytic) inhibitor beta This gene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting with the catalytic subunit of PKA, and overexpression of this gene may play a role in prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 6 q22.31 123537370 123791807 + 122793062 123047518 + 122471917 122726373 + 1580863;6480464 10880337;11978406;12061725;12477932;12748276;14574404;15342556;15489334;19035091;19460752;19483721;2052616;21906983;21988832;23224602;24250222;24869658;7684369;8889548 5570 Q5T0Z6;Q9C010 ABBA01025982;ABBA01025983;ABBA01025984;AF087873;AF225513;AJ420562;AK074397;AK315151;AL512283;AL513481;AMYH02014412;AMYH02014413;BC036011;BC093027;BG507119;BG572417;BM802552;BM969901;BP260889;BP262756;BU753807;CH471051;CR749456;NM_001270393;NM_001270394;NM_001270395;NM_032471;NM_181794;NM_181795;Z99129 AAH36011;AAH93027;AAK00638;AAM10501;ADR82685;BAG37599;EAW48168;EAW48169;EAW48170;EAW48171;NP_001257322;NP_001257323;NP_001257324;NP_115860;NP_861459;NP_861460;Q9C010 Hs.741340;Hs.744965 1647249;1654599;1669262;1785866;1936200;2080848;2108373;5014051;5015404;5015619;5016478;5020946;5022651;5024413;5037552;5118444 AL020976;AL031510;D11S2921;D11S3114;D11S3316;D8S2278;D8S2279;GDB:434012;L17705;L17877;L17971;PKIB_8565;REN111632;REN38937;SHGC-112114;WI-11930 FLJ23817;PRKACN2 OTTHUMP00000017114;OTTHUMP00000017115;OTTHUMP00000017116;OTTHUMP00000017117;PKI-beta;cAMP-dependent protein kinase inhibitor 2;cAMP-dependent protein kinase inhibitor beta APPROVED protein-coding ENSG00000135549 HGNC:9018 06075 606914 REVIEWED 6778500 PKMP2 pyruvate kinase, muscle pseudogene 2 X X X q12 66065209 66066855 + 65717617 65719263 + 66497775 66499421 + 402408 ABBA01067130;AL353136;AL592049;AMYH02039624;NG_022667 pseudo HGNC:44244 INFERRED 737364 PKLR pyruvate kinase, liver and RBC The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q21 128332260 128344368 - 155259084 155278531 - 155289293 155308723 - 1625581;1625591;1625588;1625589;1625583;1625587;1300048;2302851;2302790;6480464;6484113;6907045;7240710;8554872;8699517 12417155;12958186;14766002;16900249;17013507;4273555;4353083;8605225 10087985;10772876;11328279;11459427;11668614;11698298;11916152;11960989;12006652;12107439;12196482;12393511;12477932;1445295;1536957;15489334;15491302;15727904;1602151;16236267;16289162;16540430;17081983;17192395;17360088;17574881;17977029;18269685;18420493;18460648;18624398;18683378;18698090;18726918;18759866;18840520;1896471;18976975;18996102;19056867;19085939;19111066;19320443;19372549;19615732;19655166;19743919;2018831;20602615;20639865;20682687;20849852;20978194;21700219;21784452;21833022;21853274;21890473;21906983;21963094;21987572;22001757;22222284;22505724;23000965;23082140;23263486;23270483;23773021;24375447;24533562;24550385;25015289;3126495;3378452;3566732;7706479;8125298;8161798;8180378;8476433;8481523;8483951;8524282;8664896;8807089;9057665;9075576;9090535;9482576;9522120;9827908;9886305 5313 F8W6W2;P30613 AB015983;ABBA01016711;AK225947;AK298399;AL139410;AL353760;AL713999;AMYH02001943;AY316591;BC025737;BF110802;CH471121;D13243;M15465;NG_011677;NM_000298;NM_181871;S59798;S59799;S59800;S59801;S59803;S59804;S59806;S59807;S59809;S59810;S59811;S59812;S59813;S59814;S59815;S59817;S59819;S59820;S59821;S59822;S59823;S59829;S59832;S60712;U47654;XM_005245266;XM_006711386;XM_006726212;Z18922 AAA60104;AAA92535;AAA92536;AAB26262;AAH25737;AAP69527;ABW03679;BAA02515;BAA31706;BAG60632;EAW53079;EAW53080;NP_000289;NP_870986;P30613;XP_005245323;XP_006711449;XP_006726275 Hs.95990 1339369;1655907;1743675;2107515;2127232;2185736 D1S1153;D1S3522;GDB:366638;PKLR__7008;RH10977;RH16325 PK1;PKL;PKR;PKRL;RPK OTTHUMP00000034068;OTTHUMP00000034069;R-type/L-type pyruvate kinase;pyruvate kinase 1;pyruvate kinase PKLR;pyruvate kinase isozyme R/L;pyruvate kinase isozymes L/R;pyruvate kinase isozymes R/L;pyruvate kinase type L;pyruvate kinase, liver and blood cell;red cell/liver pyruvate kinase 1643243;2314803;2315058;2316879 BW132_H;GLUCO119_H;GLUCO133_H;GLUCO304_H APPROVED protein-coding ENSG00000143627 HGNC:9020 11841 102900;266200;609712 REVIEWED 1318266 PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] 6 6 6 p12.2 53139903 53613559 - 51480145 51952423 - 51615347 52087625 - 70439;1642441;1642440;6480464;7240710;8554872;8699517 11919560;14983006;15067314 11898128;12079288;12191969;12506140;12846734;12874454;14702039;14978161;15108277;15108281;15458427;15647252;16199545;16243292;16677362;16897190;17160262;17283055;17470460;17593545;17669261;17903305;19021639;19056867;19158352;19292732;19524688;19557197;19914852;19923420;19940839;19943112;20301501;20301743;20379614;20413436;20554582;20575693;21274727;21300060;21945273;22411058;22882926;23633212;24002674;24639526;7920664;9503014 5314 P08F94 ABBA01050561;ABBA01050562;ABBA01050563;ABBA01050564;ABBA01050565;ABBA01050566;ABBA01050567;ABBA01050568;ABBA01050569;ABBA01050570;AF480064;AK091971;AK128031;AL121946;AL157774;AL355997;AL391221;AL590391;AMYH02013723;AMYH02013724;AMYH02013725;AMYH02013726;AMYH02013727;AMYH02013728;AMYH02013729;AMYH02013730;AY074797;AY092083;AY129465;BX538137;BX647896;CH471081;NG_008753;NM_138694;NM_170724 AAL74290;AAM18186;AAM44232;AAM93492;BAC03782;EAX04359;EAX04360;NP_619639;NP_733842;P08F94 Hs.662050 1341789;1655663;1661262;1662209;1665651;1703688;1711892;1713113;1714405;1716679;1727087;1730012;1732707;1749035;1764621;1781114;2113250;2113252;2129164;2150597;2168180 D6S1344;D6S1714;D6S1956;D6S2010;D6S2390;D6S2391;D6S245;G49556;G62945;RH119735;RH120344;RH121598;RH16344;RH37475;RH45221;RH46288;SGC35102;SHGC-110670;SHGC-148211;SHGC-78840;stdJ136A8T7 ARPKD;DKFZp686C01112;FCYT;FLJ46150;TIGM1 OTTHUMP00000016598;OTTHUMP00000016599;TIG multiple domains 1;fibrocystin;polycystic kidney and hepatic disease 1 protein;polyductin;tigmin APPROVED protein-coding ENSG00000170927 HGNC:9016 05987 263200;606702 REVIEWED 6777927 PKMP3 pyruvate kinase, muscle pseudogene 3 6 6 6 86796793 86797560 - 86369584 86370351 - 85659866 85660633 - 100419758 ABBA01040477;AL355615;AMYH02014038;NG_025841 1852936;2146156;2150222 A008X26;G29186;RH46815 pseudo HGNC:44245 INFERRED 1321293 PKHD1L1 polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH 17beta-estradiol; disodium selenite; progesterone 8 8 8 q23 106562401 106730887 + 110374706 110543500 + 109362477 109531271 + 6480464;8554872 11329013;12477932;12620974;20379614;23251661 93035 H0YF65;Q86WI1 ABBA01037712;ABBA01037713;ABBA01037714;AC021001;AC021237;AK131338;AL133640;AMYH02018601;AMYH02018602;AMYH02018603;AP000427;AY219181;BC093096;BG186508;CH471060;NM_177531 AAH93096;AAO60072;CAB63761;EAW91931;NP_803875;Q86WI1 Hs.170128 1341590;1654672;1694630;1742999;1786612;2137314 D8S1122;D8S1984;G43355;GDB:229319;RH65855;SHGC-144268 DKFZp586C1021;PKHDL1 OTTHUMP00000227951;PKHD1-like protein 1;fibrocystin L;fibrocystin-L;polycystic kidney and hepatic disease 1-like protein 1;polycystic kidney and hepatic disease-like 1 protein-coding ENSG00000205038 HGNC:20313 09703 607843 VALIDATED 737501 PKM pyruvate kinase, muscle This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011] 15 15 15 q22 49377704 49410018 - 72491370 72523901 - 72199029 72231818 - 1580863;1300048;2302804;2302790;6480464;6484113 4273555;8255543 11162730;11256614;11487543;11895152;11960989;12477932;12565818;12620389;12650930;12665801;12820312;12820320;12820337;14702039;15128873;15161933;15231747;15294093;15489334;15592455;15862967;15952740;15967462;15996096;16009940;16055720;16132722;16169070;16196087;16226712;16263121;16289162;16335966;16344560;16964243;17011640;17081983;17220478;17308100;17406361;17414054;17558393;17620599;17623298;18029348;18191611;18298799;18303054;18337815;18394773;18464261;18468620;18519040;18789002;18996102;19097497;19135240;19190083;19265196;19401544;19596686;19734428;19738201;19754967;19759913;19820423;19920249;19920251;20000738;20010808;20082317;20133837;20195357;20304929;20332442;20360068;20391533;2040271;20458337;20592362;20602615;20639865;20667897;20721957;20847263;20857498;20962042;20972266;20977946;21044950;21081666;21139048;21145461;21252943;21319273;21325052;21565611;21620138;2169315;21725354;2174328;21800051;21832049;21853274;21890473;21900206;21906983;21963094;21987572;21988832;22044881;22052977;22053931;22056988;22079093;22118674;22140559;22190034;22231432;22236875;22268729;22271574;22304920;22306293;22334075;22465421;22505724;22509023;22536838;22623428;22627140;22736014;22807066;22824010;22863883;22864959;22889453;22901803;22939629;22944692;23000965;23064226;23071357;23086999;23123196;23125841;23130662;23155487;23166591;23178880;23212076;23267074;23317289;23364796;23383273;23398456;23402259;23423437;23428871;23451252;23455922;23463506;23515579;23530218;23537643;23576436;23602568;23640882;23703321;23752568;23793810;23794342;23814019;23840737;23846818;23874603;23880164;24100037;24120138;24120661;24142698;24316223;24344305;24457600;24466275;24481450;24492614;24583282;24606918;24747424;24759699;24816145;24884829;24982407;25015289;25027693;2813362;2838416;2854097;2931560;3102533;6930359;8125298;8895530;9329624;9466265;9657767 5315 B4DNK4;H3BN34;H3BQ34;H3BQZ3;H3BT25;H3BTJ2;H3BTN5;H3BU13;H3BUW1;P14618;Q504U3;V9HWB8 ABBA01038734;AC020779;AF025439;AF157692;AF185280;AF242584;AK092369;AK222927;AK294315;AK297951;AK299413;AK300800;AK307855;AK308264;AK309781;AK312253;AMYH02030751;AMYH02030752;AY352517;BC000481;BC007640;BC007952;BC012811;BC019265;BC023328;BC023592;BC035198;BC035487;BC094767;BC096823;BG490968;CH471082;DA382029;DC376054;EU794631;M23725;M26252;NM_001206796;NM_001206797;NM_001206798;NM_001206799;NM_002654;NM_182470;NM_182471;X56494;XM_005254443;XM_005254445;XM_006720570;Z36831 AAA36449;AAA36672;AAC39559;AAD47248;AAF01766;AAF65764;AAH00481;AAH07640;AAH07952;AAH12811;AAH19265;AAH35198;AAH94767;AAQ15274;ABM83665;ABW03543;ACE86928;ACE87615;ACJ13685;BAD96647;BAG35185;BAG52542;BAG57589;BAG60266;BAG61395;BAG62458;CAA39849;EAW77884;EAW77885;EAW77886;EAW77887;EAW77888;EAW77889;EAW77890;NP_001193725;NP_001193726;NP_001193727;NP_001193728;NP_002645;NP_872270;NP_872271;P14618;XP_005254500;XP_005254502;XP_006720633 Hs.534770 1702584;1767423;2119396;2137269;2155315;2169495 GDB:451703;RH48501;RH67936;RH68647;RH70518;SHGC-34981 CTHBP;HEL-S-30;MGC3932;OIP-3;OIP3;PK3;PKM2;TCB;THBP1;p58 OPA-interacting protein 3;PK, muscle type;cytosolic thyroid hormone-binding protein;epididymis secretory protein Li 30;pyruvate kinase 2/3;pyruvate kinase PKM;pyruvate kinase isozymes M1/M2;pyruvate kinase muscle isozyme;thyroid hormone-binding protein 1;thyroid hormone-binding protein, cytosolic;tumor M2-PK APPROVED protein-coding ENSG00000067225 HGNC:9021 01529 179050 REVIEWED 1603703 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 16 16 16 p13.3 3228238 3235920 - 3018101 3030540 - 2972791 2980539 - 6480464;6907045;8554872 10373560;10504341;11326318;11802161;12477932;12606722;12738781;12912980;14702039;15175024;15616553;16344560;16476973;16565220;17192257;18378775;19204086;19389623;19946888;20360068;20694148;21906983;21963094;22189141;22505724;23241949;23602568;24250222;9001210;9268380;9499405 9088 A6NHV6;B4DZM6;I3L136;I3L1H7;I3L2S4;I3L3P0;I3L4K3;I3L4Y0;Q0IJ49;Q99640 ABBA01026723;AC004233;AC004235;AF549406;AK097642;AK098452;AK294379;AK301926;AK303005;AK309964;AMYH02031280;BC121161;BC121162;BC130011;BC153823;BG530406;BQ017689;CH471112;DB009060;DB111506;NM_001258450;NM_001258451;NM_004203;NM_182687;U56816;XM_005255675;XM_006720976 AAC04477;AAC04478;AAC50949;AAI21162;AAI21163;AAI30012;AAI60025;AAN40703;BAG53500;BAG57637;BAG63346;BAG64138;EAW85439;EAW85440;NP_001245379;NP_001245380;NP_004194;NP_872629;Q99640;XP_005255732;XP_006721039 Hs.732385 5125076 RH80840 DKFZp547K1610;FLJ20093;MYT1;PPP1R126 OTTHUMP00000159225;membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase;myt1 kinase APPROVED protein-coding ENSG00000127564 HGNC:29650 03920 602474 REVIEWED 8656486 PKN2-AS1 PKN2 antisense RNA 1 1 1 88994545 89150887 - 88528862 88685308 - 20881960;22001757 101927891 ABBA01045596;ABBA01045597;AC093578;AC119426;AK123834;AMYH02001425;AMYH02001426;HG492243;HG492244;NR_110682;XR_246367;XR_246368;XR_246369;XR_248833;XR_248834;XR_248835;XR_250781;XR_250782;XR_250783 Hs.637231 ncrna ENSG00000237505 HGNC:50597 VALIDATED 1352598 PKN2 protein kinase N2 ENCODES a protein that exhibits histone deacetylase binding; poly(A) RNA binding; protein serine/threonine kinase activity; INVOLVED IN apical junction assembly; epithelial cell migration; positive regulation of cytokinesis; ASSOCIATED WITH Melanoma (inferred); FOUND IN apical junction complex; centrosome; cleavage furrow; INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 p22.2 87395729 87547728 + 89149876 89301938 + 88684193 88836255 + 1580863;6480464;8554872 10026169;10753910;10764742;10818102;10926925;11356191;11781095;12477932;12626518;12640115;14702039;14718574;15302935;15717329;15797222;15822905;16344560;16710414;16964243;17081983;17332740;17632197;18239623;18437351;18443202;18835241;18976975;18978678;19322201;19380854;19615732;19892838;19913121;19953087;20188095;20379614;20628086;20881960;20974804;21139048;21754995;21900206;21906983;21963094;22001757;22490666;22511787;22699663;22939624;23047923;23383273;23999434;24163370;24447338;24816145;7851406;7988719;8910519;9092545;9121475;9368003;9446575 5586 B1AL79;H0Y429;H0Y5V5;Q16513 ABBA01045594;ABBA01045595;ABBA01045596;AC119426;AF118089;AK023692;AK298595;AK300304;AK301066;AL136381;AMYH02001426;AMYH02001427;AMYH02001428;AMYH02001429;BC006993;BC029749;BC038832;BC046146;BC062620;BC125199;CH471097;DA451427;NM_006256;S75548;U33052;XM_005271031 AAB33346;AAC50208;AAF22033;AAH29749;AAH62620;AAI25200;BAG60783;BAG62057;BAG62673;EAW73161;EAW73162;EAW73163;EAW73164;EAW73165;NP_006247;Q16513;XP_005271088 Hs.440833 1668786;1693514;1771368;1853761;2173775;2177182;2179106;2219562;5093980 A010A04;AL009423;G33036;PRKCL2__5581;RH47567;SHGC-58543;SHGC-75090;SHGC-75113;SHGC-75118 MGC150606;MGC71074;PAK2;PRK2;PRKCL2;PRO2042;Pak-2;STK7 OTTHUMP00000011760;PKN gamma;cardiolipin-activated protein kinase Pak2;protein kinase C-like 2;protein-kinase C-related kinase 2;serine/threonine-protein kinase N2 protein-coding ENSG00000065243 HGNC:9406 03972 602549 VALIDATED 1352784 PKN1 protein kinase N1 The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14438283 14476800 + 14544166 14582679 + 14433354 14471867 + 1580863;6480464;8554872 10358086;10388627;10467162;10619026;10640683;10753910;10764742;10792047;10809724;10843871;11054541;11078882;11104762;11134534;11259428;11432776;11802708;11930178;12387894;12435421;12477932;12514133;12716939;12761180;12773565;14514689;14702039;14741690;15123640;15302935;15489334;15791647;16189514;16331689;16611232;16964243;17081983;17192257;17301291;17332740;18006505;18029348;18066052;18429822;18519042;18713748;19036992;19214198;19427017;19913121;20188095;20237496;20628086;21224381;21351730;21357687;21754995;21890473;21900206;21988832;22623531;22893700;22939624;22939629;23463506;24114839;24248594;24816145;7851406;7957185;7988719;8135837;8557118;8571127;8621664;8805275;8816775;9030526;9175763;9199504;9446575;9478917;9533029;9535835;9546672;9570957;9637778;9751706;9832145 5585 K7EKY9;K7EL10;K7EM57;K7EN76;K7EPK3;K7ES10;Q16512 ABBA01029666;AC008569;AK123007;AK292130;AK313886;AMYH02035620;BC018575;BC040061;BC094766;BQ946818;BU628889;CH471106;D26181;NM_002741;NM_213560;S75546;U33053 AAB33345;AAC50209;AAH40061;AAH94766;ABM83403;BAA05169;BAF84819;BAG36611;BAG53845;EAW84419;EAW84420;EAW84421;NP_002732;NP_998725;Q16512 Hs.466044 5127349 RH78642 DBK;MGC46204;PAK-1;PAK1;PKN;PKN-ALPHA;PRK1;PRKCL1 OTTHUMP00000037582;OTTHUMP00000037583;protease-activated kinase 1;protein kinase C-like 1;protein kinase C-like PKN;protein kinase C-related kinase 1;protein kinase PKN-alpha;protein-kinase C-related kinase 1;serine-threonine kinase N;serine-threonine protein kinase N;serine/threonine protein kinase N;serine/threonine-protein kinase N1 APPROVED protein-coding ENSG00000123143 HGNC:9405 03019 601032 REVIEWED 6779036 PKMP1 pyruvate kinase, muscle pseudogene 1 1 1 1 p13.2 113307822 113309307 + 115078592 115080077 + 114535971 114537456 + 643586 ABBA01068463;AL390241;AMYH02001782;NG_022800 1692046 AL034004 pseudo HGNC:44243 INFERRED 6783200 PKMP5 pyruvate kinase, muscle pseudogene 5 6 6 6 p25.1 7199313 7200931 + 5972621 5974239 + 5972388 5974006 + 442156 ABBA01022013;AL136307;AMYH02013039;NG_022342 pseudo HGNC:44247 INFERRED 8699153 PKNOX2-AS1 PKNOX2 antisense RNA 1 (head to head) q24.2 17567985 103695364 BP872841;NR_125759 Hs.576940 ncrna HGNC:50690 VALIDATED 1314240 PKN3 protein kinase N3 ENCODES a protein that exhibits ATP binding (inferred); protein kinase activity (inferred); protein kinase C activity (inferred); INVOLVED IN epithelial cell migration; FOUND IN Golgi apparatus (inferred); nucleus (inferred); INTERACTS WITH bleomycin A5; cobalt dichloride; cyclosporin A 9 9 9 q34.11 102115606 102133985 + 131464802 131483199 + 128702235 128720920 + 6480464 10441506;11259428;11432776;12477932;15164053;15282551;15489334;17192257;21139048;21754995;21963094;21987572;22609186;22939629;23251661;23568457;24144296;24163370;25036637 29941 Q05BU1;Q6P5Z2 AB019692;ABBA01043897;ABBA01043898;AI741632;AL441992;AMYH02021723;AMYH02021724;BC023327;BC032794;BC041581;BC062558;BQ009753;BU854923;CB987960;CH471090;NM_013355;XM_005251946;XM_006717080;XM_006717081;XM_006717082 AAH32794;AAH62558;ACE86428;ACE87103;BAA85625;EAW87824;EAW87825;NP_037487;Q6P5Z2;XP_005252003;XP_006717143;XP_006717144;XP_006717145 Hs.300485 1655580;2109665 PKN3_9611;STS-N29855 RP11-545E17.1 OTTHUMP00000022293;protein kinase PKN-beta;protein-kinase C-related kinase 3;serine/threonine-protein kinase N3 protein-coding ENSG00000160447 HGNC:17999 17856 610714 VALIDATED 1342758 PKP2P1 plakophilin 2 pseudogene 1 12 12 12 p13 8203694 8208245 + 6586805 6591355 + 6477639 6482189 + 10828611 82500 ABBA01017642;AC005840;AC006064;AMYH02025951;NG_000936 1675487 RH80926 pseudo HGNC:13413 INFERRED 1348448 PKNOX2 PBX/knotted 1 homeobox 2 Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009] 11 11 11 q24.2 122194601 122463611 + 125034559 125303285 + 125164663 125433389 + 6480464;8554872 11549286;11972344;12412021;12477932;14702039;15339927;15489334;16344560;19721000;19913121;20379614;20628086;21298047;21703634;21956439;22137330;22488850;22648509;22688191;23251661 63876 B7ZAF3;E9PKL2;E9PQS4;E9PRB6;H0YLX0;Q96KN3 AB065001;ABBA01031244;ABBA01031245;ABBA01031246;ABBA01031247;AJ417081;AK023136;AK023792;AK295857;AK298999;AK316001;AK316268;AL512682;AMYH02025733;AP000708;AP001007;AP003061;AP003069;BC045626;BX648615;CH471065;DA789677;NM_022062;XM_005271642;XM_005271643;XM_006718894;XM_006718895 AAH45626;ABZ92374;ACE86602;ACE87283;BAB14422;BAB83665;BAH12203;BAH12921;BAH14372;BAH14639;CAD01142;CAH56146;EAW67631;EAW67632;EAW67633;NP_071345;Q96KN3;XP_005271699;XP_005271700;XP_006718957;XP_006718958 Hs.278564 1339434;1658890;1675842;1683854;1715505;1733752;1737605;1740821;1740825;1750393;1768081;1772542;1848141;2124149;2162125;5093042 A004A26;A009E38;AFM210ve3;D11S1005;D11S1108;D11S2090;D11S3196;D11S420;D11S4445;D11S4447;D11S689;D6S1560;G32485;RH11980;RH120976;SHGC-112577 FLJ13074;PREP2 OTTHUMP00000231418;OTTHUMP00000231419;OTTHUMP00000231420;PBX/knotted homeobox 2;homeobox protein PKNOX2;homeobox protein PREP-2 APPROVED protein-coding ENSG00000165495 HGNC:16714 17857 613066 VALIDATED 1317269 PKP4 plakophilin 4 Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants have been found for this gene, but the full-length nature of only two of them have been described so far. These two variants encode distinct isoforms. [provided by RefSeq, Jul 2008] 2 2 2 q24.1 152930251 153154736 + 159313476 159537941 + 158456964 158681429 + 1580863;6480464;8554872 10037471;10092585;10896674;11206135;11711544;11821434;12047349;12370826;12426320;12477932;12522270;12615965;14702039;15032605;15304078;15951569;16094384;16169070;17081983;17115030;17264675;17370265;18649358;19005682;19165527;19167335;19339549;19706687;19830446;20379614;21139048;21674799;21890473;21900206;21906983;22053931;22889411;22965878;22990118;23000965;23139756;23251661;23640939;24163434;24255178;8937994;9342840;9721216 8502 E7EMY7;E7EP40;E7EST6;E9PHJ1;H0YFB1;Q99569 ABBA01004853;AC005042;AC008070;AK054911;AK055015;AK055823;AK124237;AK128720;AMYH02005057;AMYH02005058;BC034473;BC041163;BC048013;BC050308;CH471058;KF456721;NM_001005476;NM_003628;U60472;U81005;X81889 AAD00454;AAH50308;AAQ13346;AAY14929;AAY62612;CAA57478;EAX11425;EAX11426;EAX11427;EAX11428;EAX11429;EAX11430;EAX11431;EAX11432;EAX11433;NP_001005476;NP_003619;Q99569 Hs.407580 1645083;1645085;1656895;1659508;1669147;1672684;1685512;1706548;1710250;1710360;1727591;1734882;1754683;1756849;1773810;1773812;1776008;1783868;1848672;1853630;2123631;2154552;2168622;2177950;2178088;5093668;5491834 A005B01;A009U35;D2S1320;D2S1623E;D2S1649E;D2S1986;D2S1991;D2S2505;D2S2681;DZIP1;G20235;G32853;G63204;RH45241;RH92183;SHGC-101671;SHGC-133038;SHGC-144007;SHGC-24308;SHGC-56770;SHGC-58134;SHGC-63463;SHGC-81249;SHGC-82440;SHGC-85218;STS-AA021522;WI-22189 FLJ31261;FLJ42243;p0071 OTTHUMP00000204742;OTTHUMP00000204743;catenin 4;plakophilin-4 APPROVED protein-coding ENSG00000144283 HGNC:9026 05043 604276 REVIEWED 1316687 PKP1 plakophilin 1 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 1 1 1 q32 174376403 174425974 + 201252580 201302121 + 201283452 201332993 + 1599084;6480464;7240710;8554872 9326952 10374265;10852826;10880961;10951270;11500511;11790773;11994137;12477932;12839569;12840072;14673151;15663951;15988759;16159729;16632867;17549794;17593084;17668353;18029348;18519826;19016709;19165232;19615732;19913121;19945625;20020773;20156963;20348237;20379614;20562859;20613778;20628086;20634891;21139048;21800051;21947748;22170739;22797925;23443559;23444369;24056861;24457600;7527055;7890138;9272178;9369526;9606214;9721216 5317 Q13835;Q14BN3 ABBA01027534;AC119427;AK123555;AK299473;AK315291;AK316131;AMYH02002477;BC040253;BC114571;BC115702;CH471067;CS673442;CS673444;CS690825;CS690827;FB665578;FB665580;GM706790;GM706792;KF459531;NG_023337;NM_000299;NM_001005337;X79293;Z34974;Z73678 AAI14572;AAI15703;BAG61437;BAH14502;CAA55881;CAA84426;CAA98022;CAP07488;CAP07489;CAP11456;CAP11457;CAR97070;CAR97071;CAT82292;CAT82293;EAW91350;EAW91351;EAW91352;NP_000290;NP_001005337;Q13835 Hs.497350 1341884;1646424;1661377;1686672;1721231;1730783;1759109;2147503;5123390 D1S310;D1S3142;D1S477;G34869;G59460;SHGC-150584;SHGC-1568;SHGC-34136;SHGC-76146 B6P;MGC138829 OTTHUMP00000033848;OTTHUMP00000033849;band 6 protein;plakophilin-1 APPROVED protein-coding ENSG00000081277 HGNC:9023 03579 601975;604536 REVIEWED 1315204 PKP2 plakophilin 2 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p11 12764378 12870162 - 32943680 33049780 - 32790746 32896846 - 1580872;1580873;1580863;6480464;6907045;7240710;8554872;8699517 15489853;16567567 10374264;10374265;10828611;10852826;11416169;11790773;12477932;12941695;15231748;15324660;15778465;16344560;16415378;16549640;16876743;17010805;17041889;17521752;17979178;18029348;18474624;18596851;18632414;18662195;19084810;19302745;19427443;19533476;19551809;19863551;19880068;19955750;20031616;20031617;20215590;20301310;20400443;20554761;20693980;20864495;21139048;21145461;21378009;21906983;21947748;22019812;22035158;22119253;22170284;22751105;22781308;23000965;23147395;23251661;23270881;23443559;23486541;23602568;23651034;23788249;23884246;24255178;24276085;24352520;24457600;24778252;8922383;9721216 5318 Q99959 ABBA01031702;ABBA01031703;AC087311;AC087588;AK299139;AMYH02026308;AMYH02026309;AMYH02026310;AU125826;AW439621;BC070083;BC094762;BC126199;BC143966;BC143967;BX956935;CH471116;DB454360;EU492903;EU520483;EU520484;EU520485;EU520486;NG_009000;NM_001005242;NM_004572;X97675 AAH94762;AAI26200;AAI43967;ACD03459;ACD13292;ACD13293;ACD13294;ACD13295;ADR83411;BAG61191;CAA66264;CAA66265;EAW88511;EAW88512;EAW88513;EAW88514;EAW88515;EAW88516;NP_001005242;NP_004563;Q99959 Hs.164384 1336387;1658711;1675487;1688338;1722761;2107517;2141421;2143242;2168845 A004R21;D12S1692;G60319;PKP2__7009;RH46276;RH65661;RH80560;RH80926;SHGC-53044 ARVD9;MGC177501 OTTHUMP00000241342;OTTHUMP00000241343;plakophilin-2 APPROVED protein-coding ENSG00000057294 HGNC:9024 04177 602861;609040 REVIEWED 5489212 PKP4P1 plakophilin 4 pseudogene 1 2 2 2 q34 203811371 203813630 + 210043528 210045787 + 209178804 209181063 + 402116 ABBA01062720;AC013409;AMYH02005670;NG_021602 1659508 STS-AA021522 pseudo HGNC:42661 INFERRED 736427 PLA2G10 phospholipase A2, group X ENCODES a protein that exhibits phospholipase activity (ortholog); INVOLVED IN axon guidance; lysophospholipid transport; negative regulation of sequence-specific DNA binding transcription factor activity; PARTICIPATES IN arachidonic acid metabolic pathway; glutamate signaling pathway; glycerophospholipid metabolic pathway; FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; benzo[a]pyrene 16 16 16 p13.1-p12 14943182 14965293 - 14766405 14788526 - 14672548 14702763 - 1300048;1580863;6480464;6907045 10922494;11019817;11741884;12021277;12048163;12161451;12477932;12664556;14501581;14962950;15007070;15489334;15781456;15927955;16169070;16438975;16962371;17077289;17093191;18511424;18587072;19336475;19495570;20357262;20833395;20974857;21255140;21652694;21878635;22494626;22967861;23349189;23614662;23859159;24070020;24508801;8617505;9188469;9377118;9745929 8399 H3BRW4;O15496 ABBA01006896;AC009167;AC243753;BC069539;BC106731;BC106732;BC111804;CH471112;CR456885;NM_003561;U95301;XM_006720958;XM_006725214 AAB64410;AAH69539;AAI06732;AAI06733;AAI11805;CAG33166;EAW85104;NP_003552;O15496;XP_006721021;XP_006725277 Hs.567366 1729758;2174334 D16S312;RH65989 GXPLA2;GXSPLA2;MGC119918;MGC119919;MGC133367;SPLA2 GX sPLA2;OTTHUMP00000045725;group 10 secretory phospholipase A2;group X secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 10;phospholipase a2, group 10;sPLA2-X protein-coding ENSG00000069764 HGNC:9029 04674 603603 PROVISIONAL 1312771 PKNOX1 PBX/knotted 1 homeobox 1 ENCODES a protein that exhibits protein heterodimerization activity (inferred); RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (inferred); sequence-specific DNA binding (inferred); INVOLVED IN angiogenesis (inferred); camera-type eye development (inferred); erythrocyte differentiation (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); transcription factor complex (inferred); INTERACTS WITH arsenous acid; beta-naphthoflavone; cobalt dichloride 21 21 21 q22.3 29545263 29606363 + 44394643 44453688 + 42974510 43033931 + 1580863;6480464 10215622;10373562;10471746;10830953;10906782;11069920;11342305;12477932;12732210;12771203;12871956;15138251;15146197;15342556;15468914;16780588;18093541;19260141;19505873;20106730;20125193;20211142;21130836;21203543;21715654;21832049;22185299;22347417;7729685;8125298;8889549;9079695;9143494;9366523;9479508;9482739;9482740;9582372 5316 B4DGV5;E7EPN6;H0YM69;P55347;Q6PKH2;Q96I87 AA133342;ABBA01004517;AK222892;AK294794;AMYH02037886;AMYH02037887;AMYH02037888;AMYH02037889;AMYH02037890;AP001630;AP001748;AY142115;AY196965;AY566249;BC000735;BC007746;BP369805;CH471079;CN294014;NM_001286258;NM_004571;U68727;Y13613 AAC51243;AAH00735;AAH07746;AAN34940;AAO45825;AAT70235;ABM83635;ABM86887;BAA95533;BAD96612;BAG57916;CAA73934;EAX09517;EAX09518;NP_001273187;NP_004562;P55347 Hs.431043 1650158;1670660;1695638;1695640;1797990;1855289;2164622;5014740 D17S610;D21S1938;G48510;G48511;PKNOX1_2194;SHGC-52028;STS-T84037;WI-16888 PREP1;pkonx1c OTTHUMP00000109414;PBX/knotted homeobox 1;Pbx regulating protein-1;homeobox protein PKNOX1;homeobox protein PREP-1;human homeobox-containing protein protein-coding ENSG00000160199 HGNC:9022 03653 602100 VALIDATED 1312232 PLA2G12A phospholipase A2, group XIIA Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM, Mar 2008] 4 4 4 q25 107924808 107944904 - 110631145 110651242 - 109709989 109730086 - 1580863;6480464;6907045 11031251;11278438;12477932;12522102;12975309;14516201;15489334;16303743;19773279;19913121;20332099;20385819;20628086;21988832;24250222;9377118;9745929 81579 D6RBP5;Q542Y6;Q9BZM1 ABBA01063783;AC004067;AF306567;AF332892;AK075389;AK313081;AMYH02009899;AMYH02009900;AY359024;BC017218;BI667755;CH471057;CS051187;NM_030821 AAG50243;AAG50289;AAH17218;AAQ89383;ABM83651;ABM87859;BAC11589;BAG35907;CAI72089;EAX06246;EAX06247;EAX06248;EAX06249;NP_110448;Q9BZM1 Hs.389452 1648578;1687894;1779044;1797992;1852255;2131915;2138797;2171410;2186639;2186687;2191693;5092608;5093518;5125704 A005A08;A009Q08;G32211;G32765;MARC_5155-5156:966894589:1;PLA2G12_1916;SHGC-24776;SHGC-24817;SHGC-36185;SHGC-60101;SHGC-67246;SHGC-67334;STS-N92558;WI-21562 GXII;GXII sPLA2;PLA2G12;sPLA2-XII OTTHUMP00000162744;OTTHUMP00000219719;ROSSY;group XII secreted phospholipase A2;group XIIA secreted phospholipase A2;group XIIA secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 12A;phospholipase A2, group XII APPROVED protein-coding ENSG00000123739 HGNC:18554 17858 611652 VALIDATED 4889246 PLA2G12AP1 phospholipase A2, group XIIA pseudogene 1 1 1 1 51121042 51121608 + 52834348 52834914 + 52368676 52369242 + 100420258 ABBA01074775;AL513218;AMYH02001018;NG_027094 2191693 MARC_5155-5156:966894589:1 pseudo HGNC:39248 INFERRED 1319304 PKP3 plakophilin 3 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. [provided by RefSeq, Jul 2008] 11 11 11 p15 452822 464082 + 392614 404908 + 392614 404908 + 1580863;6480464;8554872 10374265;10381383;10852826;12477932;12707304;12827610;15302935;15489334;15778465;15951569;16407409;16964243;17391671;18729189;18801625;19531213;19913121;20348237;20501752;20628086;20859650;21194493;21947748;22223854;22701666;24124604;24178805;24328683;24332808;24457600;8125298 11187 E9PJR7;E9PK71;E9PKC4;E9PQ15;E9PRW6;H0YEY5;Q9Y446 ABBA01015180;ABBA01015181;AC138230;AF053719;AK025067;AK223511;AMYH02024136;AMYH02024137;AMYH02024138;BC000081;BG611119;BX356582;CH471158;FN421477;NM_007183;XM_005252760;Z98265 AAF23050;AAH00081;ABM82618;ABM85801;BAD97231;CAB44310;CAZ65731;EAX02322;EAX02323;NP_009114;Q9Y446;XP_005252817 Hs.534395 OTTHUMP00000147609;plakophilin 3b;plakophilin-3 APPROVED protein-coding ENSG00000184363 HGNC:9025 05711 605561 REVIEWED 4889245 PLA2G12AP2 phospholipase A2, group XIIA pseudogene 2 13 13 13 20530451 20530960 + 39476429 39476938 + 38902292 38902801 + 100420281 ABBA01021319;AL354819;AMYH02027893;NG_024917 pseudo HGNC:39249 INFERRED 1343434 PLA1A phospholipase A1 member A The protein encoded by this gene is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] 3 3 3 q13.13-q13.2 117725283 117757207 + 119316695 119348658 + 119597848 119629811 + 1580863;6480464;8554872 10196188;12069807;12436198;12477932;1531641;15489334;16344560;17207965;18976975;19632984;19913121;20573295;20628086;21832049;23025307;24368210;8125298;8999922;9074642 51365 G5E9W0;H7C4H1;Q53H76 ABBA01061581;AC073352;AF035268;AF035269;AK222705;AK301880;AK313519;AMYH02007502;AMYH02007503;BC035347;BC047703;BE221465;BX647516;CH471052;DB189568;DB255030;NG_029696;NM_001206960;NM_001206961;NM_001293225;NM_015900;NR_120610;U37591;XM_006713653;XR_241496 AAC98921;AAC98922;AAC99994;AAH47703;ADQ33095;BAD96425;BAG36299;BAG63314;EAW79557;EAW79558;EAW79559;EAW79560;NP_001193889;NP_001193890;NP_001280154;NP_056984;Q53H76;XP_006713716 Hs.437451 2127813;2130997;2185281;2219510 G29240;PLA1A__2651;SHGC-77236;STS-T96131 PS-PLA1;PSPLA1 OTTHUMP00000215247;OTTHUMP00000215248;OTTHUMP00000215249;OTTHUMP00000215250;phosphatidylserine-specific phospholipase A1;phosphatidylserine-specific phospholipase A1alpha APPROVED protein-coding ENSG00000144837 HGNC:17661 07078 607460 REVIEWED 1344350 PLA2G15 phospholipase A2, group XV Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52787740 52803454 + 68279240 68294965 + 68245344 68261062 + 1582126;1580863;6480464;6907045;8554872 15781238 10092508;10230407;10395961;11790796;12477932;12975309;14702039;14754907;15340161;15489334;16169070;16303743;16973413;18029348;18983494;19461040;19913121;20628086;20877624;21906983;22268729;8125298 23659 B4DJW4;B4DPU0;H3BM47;H3BMU8;H3BPT3;H3BT70;Q8NCC3 AB017494;ABBA01025482;ABBA01025483;AC020978;AK001705;AK074828;AK127898;AK222790;AK296263;AK298494;AK300596;AL110209;AL389957;AMYH02032249;AY358425;BC011640;BC062605;CH471092;NM_012320;XM_005255886 AAH11640;AAH62605;AAQ88791;ACE87583;BAA76877;BAC11233;BAD96510;BAG50965;BAG58976;BAG60702;BAG62293;CAB53675;CAB97531;EAW83217;EAW83218;NP_036452;Q8NCC3;XP_005255943 Hs.632199 1683787;1736616;1775304 D16S2605E;RH27239;SHGC-60695 ACS;DKFZp564A0122;GXVPLA2;LLPL;LPLA2;LYPLA3 1-O-acylceramide synthase;LCAT-like lysophospholipase;OTTHUMP00000174859;group XV phospholipase A2;lysophospholipase 3 (lysosomal phospholipase A2);lysosomal phospholipase A2 APPROVED protein-coding ENSG00000103066 HGNC:17163 07128 609362 REVIEWED 737532 PLA2G16 phospholipase A2, group XVI ENCODES a protein that exhibits phospholipase A2 activity; INVOLVED IN phospholipid metabolic process; ASSOCIATED WITH Seminoma; Testicular Neoplasms; Breast Neoplasms (ortholog); FOUND IN cytosol (inferred); endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 11 11 11 q12.3 60665947 60705955 - 63341934 63381941 - 63574462 63616873 - 1580863;2290002;2290001;6480464 11526504;9049257 10508479;11337467;11973642;12054741;12477932;15489334;16189514;16713569;17003497;17374643;18614531;19136964;19615464;20501645;21139048;21890473;21963094;22605381;22923616;24884338;9771974 11145 F5H7E5;P53816 AB030814;AB439591;ABBA01003256;AF317086;AI374456;AI590735;AK313075;AMYH02024912;AP000753;AP001591;AU099540;AX775893;BC001387;BC103807;BC103808;BG719903;CH471076;CK003948;NM_001128203;NM_007069;X92814;XM_006718426 AAH01387;AAI03808;AAI03809;AAL26892;ABM83494;ABM86709;BAB08108;BAG35901;BAH08749;CAA63423;CAE11646;EAW74158;EAW74159;EAW74160;NP_001121675;NP_009000;P53816;XP_006718489 Hs.502775 1688209;1722631;5126474;7185250 D11S1883;G60399;RH80558;STS-X92814 H-REV107-1;HRASLS3;HREV107;HREV107-1;HREV107-3;HRSL3;MGC118754 AdPLA;Ca-independent phospholipase A1/2;H-rev 107 protein homolog;HRAS-like suppressor 1;HRAS-like suppressor 3;OTTHUMP00000237069;adipose-specific PLA2;adipose-specific phospholipase A2;group XVI phospholipase A1/A2;group XVI phospholipase A2;hras like suppressor;renal carcinoma antigen NY-REN-65 protein-coding ENSG00000176485 HGNC:17825 13671 613867 VALIDATED 1349993 PLA2G2C phospholipase A2, group IIC ENCODES a protein that exhibits calcium ion binding (inferred); calcium-dependent phospholipase A2 activity (inferred); phospholipase A2 activity (inferred); INVOLVED IN lipid catabolic process (inferred); phospholipid metabolic process (inferred); PARTICIPATES IN arachidonic acid metabolic pathway; glutamate signaling pathway; glycerophospholipid metabolic pathway; FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4',5-pentachlorobiphenyl (ortholog); 3H-1,2-dithiole-3-thione (ortholog) 1 1 1 p36.12 18813602 18824805 - 20490484 20501687 - 20163991 20175194 - 6480464;6907045 8838795;9377118;9745929 391013 J3KMZ3;Q5R387 ABBA01059774;AMYH02000428;NM_001105572;Z98257 NP_001099042;Q5R387 Hs.512512 OTTHUMP00000002791;phosphatidylcholine 2-acylhydrolase-like protein GIIC;phospholipase A2, group IIC (possible pseudogene);putative inactive group IIC secretory phospholipase A2 protein-coding ENSG00000187980 HGNC:9032 PROVISIONAL 735909 PLA2G1B phospholipase A2, group IB (pancreas) This gene encodes a secreted member of the phospholipase A2 (PLA2) class of enzymes, which is produced by the pancreatic acinar cells. The encoded calcium-dependent enzyme catalyzes the hydrolysis of the sn-2 position of membrane glycerophospholipids to release arachidonic acid (AA) and lysophospholipids. AA is subsequently converted by downstream metabolic enzymes to several bioactive lipophilic compounds (eicosanoids), including prostaglandins (PGs) and leukotrienes (LTs). The enzyme may be involved in several physiological processes including cell contraction, cell proliferation and pathological response. [provided by RefSeq, Aug 2013] 12 12 12 q24.31 120393029 120398697 - 120759914 120765592 - 120322111 120327789 - 1302550;1300048;1580863;6480464;6907045;8554872 12376327 10509674;10551547;10735945;10873103;10905638;10964913;11025364;11353443;11510783;11807183;11851982;12423354;12477932;12759552;12860195;14557262;14998370;15220446;15489334;15528384;15736947;16005851;16391564;16392040;16495221;16541075;16567514;17065600;17223797;17434532;17470210;17488462;17981679;18212756;18492292;18636547;1918029;19297324;19913121;2052621;20536387;20628086;21988832;22528125;22680611;24441870;3028739;6349696;6477929;7060561;7584826;7590434;7721806;8175726;8300559;8358438;9188469;9377118;9745929;9847074;9848887;9886417 5319 F8W062;P04054;Q9BS22 AA844927;ABBA01020108;AC003982;AK311830;AMYH02027368;AY438977;BC005386;BC013384;BC106725;BC106726;BE969737;BX113838;CA867923;CH471054;M21054;M21056;NM_000928 AAA36450;AAA60107;AAB95635;AAH05386;AAI06726;AAI06727;AAR05441;ACE87785;ACT64452;BAG34772;EAW98184;NP_000919;P04054 Hs.992 1742869;1788548;1788550 G67590;G67591;GDB:212655 MGC119834;MGC119835;PLA2;PLA2A;PPLA2 OTTHUMP00000240862;OTTHUMP00000240863;OTTHUMP00000240864;group IB phospholipase A2;phosphatidylcholine 2-acylhydrolase 1B;phospholipase A2;phospholipase a2, group ib 2289606 BW476_H APPROVED protein-coding ENSG00000170890 HGNC:9030 01396 172410 VALIDATED 1351879 PLA2G12B phospholipase A2, group XIIB Phospholipase A2 (PLA2) enzymes catalyze hydrolysis of glycolipids to release free fatty acids and lysophospholipids. PLA2G12B belongs to the PLA2 family, but it is catalytically inactive due to an amino acid change in its active site and has altered phospholipid-binding properties (Rouault et al., 2003 [PubMed 14516201]).[supplied by OMIM, Mar 2008] 10 10 10 q22.1 67980077 67999649 - 74694519 74714590 - 72934696 72954832 - 1580863;6480464;6907045 12477932;14516201;15340161;15489334;19817957;9377118;9745929 84647 Q9BX93 ABBA01020345;AC069548;AF339053;AF349540;AK311349;AK313712;AMYH02023327;AX399941;AY358032;BC093996;BC111946;BC143532;BF939574;CH471083;KF455258;NM_032562;XM_005270243;XM_005270244;XM_005270245 AAH93996;AAI11947;AAI43533;AAK30168;AAL09472;AAQ92918;CAD33385;EAW54464;EAW54465;EAW54466;NP_115951;Q9BX93;XP_005270300;XP_005270301;XP_005270302 Hs.333175 1683519 RH98272 FKSG71;GXIIB;GXIIIsPLA2;MGC138151;PLA2G13 GXIII sPLA2-like;OTTHUMP00000019792;group XIIB secretory phospholipase A2-like protein;group XIII secreted phospholipase A2;group XIII secretory phospholipase A2-like protein;phospholipase A2, group XIII;sPLA2-GXIIB APPROVED protein-coding ENSG00000138308 HGNC:18555 10155 611653 VALIDATED 731016 PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) The protein encoded by this gene is a member of the phospholipase A2 family (PLA2). PLA2s constitute a diverse family of enzymes with respect to sequence, function, localization, and divalent cation requirements. This gene product belongs to group II, which contains secreted form of PLA2, an extracellular enzyme that has a low molecular mass and requires calcium ions for catalysis. It catalyzes the hydrolysis of the sn-2 fatty acid acyl ester bond of phosphoglycerides, releasing free fatty acids and lysophospholipids, and thought to participate in the regulation of the phospholipid metabolism in biomembranes. Several alternatively spliced transcript variants with different 5' UTRs have been found for this gene.[provided by RefSeq, Sep 2009] 1 1 1 p35 18628736 18633743 - 20301924 20306932 - 19975431 19980439 - 619597;1300048;1580863;6480464;6482727;6482717;6482724;6482726;6482720;6482728;6482729;6482722;6484113;6482721;6482719;6482718;6482725;6482716;6907045;7240710;8554872 17982090;18096355;19037975;19235614;19306380;19672667;20463618;21042565;21161352;21868473;22173044;22331023;7781071;9695991 10747008;10771478;11076863;11256614;11752212;11839587;11903045;12085323;12244093;12359734;12456890;12477932;12501175;12574380;12616631;12626587;12694401;12773489;14499668;14639048;15007070;15259375;15299314;15318030;15474031;15489334;15489336;15576846;15688033;15802623;15897607;15964894;16169070;16177112;16253130;16278219;16368710;16381901;16461407;16585943;16603549;16617059;16710414;16712791;17029400;17069818;17164967;17264305;17447002;17545304;17565722;17892360;17932742;17936881;18037706;18089561;18192373;18508504;18519687;18540439;18635536;18676680;18752058;18755682;18827909;18848929;18992148;19065693;19169647;19170196;19245588;19276398;19449149;1948070;19495570;19621421;19625176;19647092;19692168;19798476;19818633;19850087;19913121;19962957;20008021;20056178;20061576;20357262;20432503;2046470;20600872;2062381;20628086;20639215;20812222;20837598;21068383;21099324;21255140;21382622;21404895;21417548;21455584;21544859;21799821;21813137;21848517;21884198;21900206;22042222;22056971;22075700;22118674;22127954;22266334;2239446;22406427;22989727;23026567;23079010;23343574;23438648;23451150;23482564;23609358;23664539;23722320;23852891;23901095;24061501;24115030;24269828;24508801;2708461;2775276;2925608;2925633;3202859;3240982;7664108;7721806;8175726;8399335;8824283;8831753;8838795;8889548;9032461;9155583;9272153;9377118;9538252;9745929;9811056;9848887 5320 P14555;Q9C011 ABBA01059772;AF154852;AF154853;AF224774;AF368841;AK291302;AL358253;AMYH02000426;AY462114;AY656695;AY656696;BC005919;BM708748;BU626291;BX641714;CB132375;CH471134;CR456865;M22430;M22431;NG_012928;NM_000300;NM_001161727;NM_001161728;NM_001161729 AAA36549;AAA36550;AAG49535;AAH05919;AAK57824;AAK57825;AAM21271;AAR16084;AAT73043;AAT73044;ABM84083;ABM87450;BAF83991;CAG33146;CAL38367;EAW94907;EAW94908;EAW94909;EAW94910;NP_000291;NP_001155199;NP_001155200;NP_001155201;P14555 Hs.466804 2178859;2217752 PLA2G2A_2785;SHGC-74294 MOM1;PLA2;PLA2B;PLA2L;PLA2S;PLAS1;sPLA2 GIIC sPLA2;NPS-PLA2;OTTHUMP00000002786;group IIA phospholipase A2;non-pancreatic secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 2A;phospholipase A2, membrane associated APPROVED protein-coding ENSG00000188257 HGNC:9031 01397 114500;172411 REVIEWED 735872 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. [provided by RefSeq, Jul 2008] 1 1 1 q25 159908366 160068522 + 186798032 186958113 + 186828900 186988981 + 1580863;1642453;1642456;1642461;1642462;1642465;1642444;1642445;1642446;1642457;1642481;1642443;1642469;1642471;6480464;6482738;6484113;6482748;6907045;7240710;8552712;8552898;8554872 12490538;14664823;15306117;15557087;16203828;1642455;16621493;16933973;17305324;17459512;17483741;18718965;18761105;21172452;22679221;7635966;9879654 10085124;10319815;10625659;10978317;11416127;12048163;12050227;12124392;12414998;12477932;12765847;12885780;14609334;14686920;14726390;14769798;14963030;15007070;15041036;15118355;15259375;15276701;15294900;15302935;15305015;15318030;15331599;15358156;15475363;15489334;15789617;15862967;15975962;16181776;16221889;16344560;16407173;16409471;16462602;16585943;16603549;16710414;16754327;16829784;16963226;16964243;17081983;17178883;17344094;17417066;17460547;17629734;17672871;17685590;17873281;17901074;17971499;17976189;18029351;18280113;18330356;18388244;18451993;18471798;18502815;18562188;18566601;18583979;18632668;18665843;18686860;1869522;18781797;18818748;18840708;19019335;1904318;19091957;19176526;19237603;19280714;19336370;19401382;19450127;19527514;19560328;19625654;19632995;19675210;19717620;19753100;19778898;19795129;19913121;20034614;20056178;20066429;20069553;20112044;20140262;20203101;20211985;20227521;20351714;20379614;20392485;20435073;20464283;20478385;20628086;20635443;20643646;20705608;20802406;20808133;21097525;21127289;21139048;21148506;21185392;21198294;21247147;21268080;21315000;21478406;21536681;21771656;21825068;21862584;21896865;21906983;21963094;22003202;22138395;22274867;22378731;22398721;22456504;22648535;22728329;22863883;22895089;22911431;22939629;22949513;23043861;23219238;23268370;23307260;23549331;23801329;23948114;24349530;24366870;7782073;7800505;7862535;7999086;8083230;8175726;8381049;8612580;8636128;8702602;8910365;9239738;9377118;9430701;9468497;9665851;9745929;9875225 5321 P47712 ABBA01027700;ABBA01027701;AK290336;AK302938;AL022147;AL049797;AMYH02002316;AY552098;BC114340;BX118890;CH471067;D38177;DA451491;DQ399336;M68874;M72393;NG_012203;NM_024420;U01845;U08374;U11239;XM_005245267;XM_005245268;XR_426785;Z33877 AAA60105;AAB00789;AAI14341;AAS45712;BAA07375;BAF83025;BAG64096;EAW91217;EAW91218;NP_077734;P47712;XP_005245324;XP_005245325 Hs.497200 1693062;1701660;1743439;1789286;1850910;2130480;2137765;2165932;2189755;5016516;5491758 AL034257;D13AT1;D1S3128;D1S3460;G67877;GDB:321239;GDB:582583;PLA2G4A;RH104487;RH17731;SHGC-35515 MGC126350;PLA2G4;cPLA2;cPLA2-alpha OTTHUMP00000033543;calcium-dependent phospholipid-binding protein;cytosolic phospholipase A2;lysophospholipase;phosphatidylcholine 2-acylhydrolase;phospholipase A2 group IVA 2316338 GLUCO223_H APPROVED protein-coding ENSG00000116711 HGNC:9035 08986 600522 REVIEWED 1320432 PLA2G2D phospholipase A2, group IID This gene encodes a secreted member of the phospholipase A2 family, and is found in a cluster of related family members on chromosome 1. Phospholipase A2 family members hydrolyze the sn-2 fatty acid ester bond of glycerophospholipids to produce lysophospholipids and free fatty acid. This gene may be involved in inflammation and immune response, and in weight loss associated with chronic obstructive pulmonary disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012] 1 1 1 p36.12 18761553 18769129 - 20439143 20446059 - 20112650 20119566 - 1580863;6480464;6907045 10455175;11076863;12396716;12477932;12895207;12975309;15052324;15379211;15489334;15489336;16002569;16188494;16381901;16710414;16897354;18405237;18958346;19365107;20056178;20237496;22240557;22490726;23251661;23533611;24561123;9377118;9745929 26279 Q6UWX0;Q9UNK4 ABBA01059773;AF112982;AF188625;AK026347;AK290406;AK301396;AK310156;AK311903;AL158172;AMYH02000427;BC025706;CH471134;DC295429;NM_001271814;NM_012400 AAD51390;AAF09020;AAH25706;BAF83095;BAG34844;BAG62931;CAL37796;CAL37832;CAL37855;CAL38474;CAL38699;EAW94915;NP_001258743;NP_036532;Q9UNK4 Hs.189507 5037552 D8S2279 GIID sPLA2;PLA2IID;SPLASH;sPLA2-IID;sPLA2S OTTHUMP00000002788;group IID secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 2D;secretory phospholipase A2s;secretory-type PLA, stroma-associated homolog protein-coding ENSG00000117215 HGNC:9033 07546 605630 REVIEWED 1348684 PLA2G4C phospholipase A2, group IVC (cytosolic, calcium-independent) This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 19 19 19 q13.3 45416244 45479249 - 48551100 48614109 - 48047843 48110852 - 6480464;8554872 10085124;10708517;11958371;12039969;12396716;12477932;12502717;14529291;14702039;15489334;15788676;15908428;15944408;16181776;16882668;17213206;17417066;17459165;18686860;19501189;19913121;20016400;20056178;20452986;20628086;21184677;21600875;21832049;22108055;22878031;23025307;9202034;9377118;9705332;9745929 8605 M0QX83;M0QY18;M0QZB1;M0R0F6;M0R0M8;M0R1B4;M0R339;M0R3I9;Q9UP65 AB105806;AB105807;AB105808;ABBA01033010;ABBA01033011;ABBA01033012;ABBA01033013;ABBA01033014;ABBA01033015;ABBA01033016;ABBA01033017;AC010458;AC011466;AF058921;AF065214;AK022440;AK124241;AK126152;AK295400;AK314524;AL050193;AMYH02036282;AMYH02036283;AMYH02036284;AY485310;BC017956;BC063416;CH471177;CR456816;NG_016021;NM_001159322;NM_001159323;NM_003706;XM_006723451;XM_006723452;XM_006723453 AAC32823;AAC78835;AAH17956;AAH63416;AAR25453;BAC87744;BAC87745;BAC87746;BAG37118;BAG58352;CAB43312;CAG33097;EAW52311;EAW52312;EAW52313;EAW52314;EAW52315;NP_001152794;NP_001152795;NP_003697;Q9UP65;XP_006723514;XP_006723515;XP_006723516 Hs.631562 1664704;1783820;2120980;2177931;5014051;5015404;5015619;5015861;5016781;5017227;5020946;5022651;5037552;5109281;7185938 A004H25;D10S16;D11S2921;D11S3114;D19S664E;D1S1425;D8S2278;D8S2279;G38154;L17705;L17971;SHGC-153641;SHGC-67307;WI-14200 CPLA2-gamma;DKFZp586C0423;FLJ42247;FLJ44164 cytosolic phospholipase A2 gamma;phospholipase A2 group IVC APPROVED protein-coding ENSG00000105499 HGNC:9037 04673 603602 REVIEWED 1352050 PLA2G4D phospholipase A2, group IVD (cytosolic) The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009] 15 15 15 q15.1 19127581 19154452 - 42359881 42386752 - 42067683 42094554 - 737633;1580863;6480464;8554872 12477932 14709560;15489334;16213696;18686860;19913121;20628086;21832049;9377118;9745929 283748 Q86XP0 AB090876;ABBA01038382;ABBA01038383;AC084693;AMYH02030281;BC034571;CH471125;NM_178034 AAH34571;AAI40417;AAI46534;ABM82718;ABM85900;BAC67158;EAW92529;EAW92530;NP_828848;Q86XP0 Hs.380225 1732459;1736770 D15S518;D15S773 cPLA2delta cPLA2-delta;cytosolic phospholipase A2 delta;phospholipase A2 delta, cytosolic;phospholipase A2 group IVD APPROVED protein-coding ENSG00000159337 HGNC:30038 07145 612864 VALIDATED 1322150 PLA2G2F phospholipase A2, group IIF ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN glycerophospholipid biosynthetic process (inferred); lipid catabolic process (inferred); phosphatidic acid biosynthetic process (inferred); PARTICIPATES IN arachidonic acid metabolic pathway; glutamate signaling pathway; glycerophospholipid metabolic pathway; FOUND IN cytosol (inferred); extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); potassium dichromate (ortholog) 1 1 1 p35 18788941 18799997 + 20465823 20476879 + 20139330 20150386 + 1580863;6480464;6907045 11112443;11877435;14702039;16710414;20056178;22082156;24269828;9377118;9745929 64600 Q9BZM2 ABBA01059774;AF306566;AK093645;AL158172;AMYH02000428;BM987713;BX647458;CH471134;NM_022819;XM_006710817;Z98257 AAG50242;AAI56848;BAC04210;EAW94916;NP_073730;Q9BZM2;XP_006710880 Hs.302034 FLJ25429;FLJ36326 GIIF sPLA2;OTTHUMP00000002790;group IIF secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 2F;sPLA2-IIF protein-coding ENSG00000158786 HGNC:30040 07499 VALIDATED 1320041 PLA2G2E phospholipase A2, group IIE ENCODES a protein that exhibits calcium ion binding (inferred); phospholipase A2 activity (inferred); INVOLVED IN glycerophospholipid biosynthetic process (inferred); inflammatory response (inferred); lipid catabolic process (inferred); PARTICIPATES IN arachidonic acid metabolic pathway; glutamate signaling pathway; glycerophospholipid metabolic pathway; FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); 4-amino-2,6-dinitrotoluene (ortholog) 1 1 1 p36.13 18573636 18576946 - 20246800 20250110 - 19920307 19923617 - 1580863;6480464;6907045 10681567;11922621;12477932;16710414;19122664;19915572;20056178;20228799;23511034;9377118;9745929 30814 Q9NZK7 ABBA01059770;AF189279;AL358253;AMYH02000424;BC069116;CH471134;NM_014589 AAF36541;AAH69116;AAI40241;AAI41620;EAW94906;NP_055404;Q9NZK7 Hs.272372 GIIE sPLA2;sPLA2-IIE OTTHUMP00000002789;group IIE secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 2E protein-coding HGNC:13414 07143 VALIDATED 1606471 PLA2G4E phospholipase A2, group IVE ENCODES a protein that exhibits metal ion binding (inferred); phospholipase A2 activity (inferred); INVOLVED IN glycerophospholipid biosynthetic process (inferred); phosphatidylcholine acyl-chain remodeling (inferred); phosphatidylethanolamine acyl-chain remodeling (inferred); PARTICIPATES IN arachidonic acid metabolic pathway; glutamate signaling pathway; glycerophospholipid metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); cytosol (inferred); lysosome (inferred); INTERACTS WITH atrazine; aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 15 15 15 q15.1 19043598 19070102 - 42273780 42342901 - 41981582 42050703 - 6907045;6480464;8554872 12477932;14702039;15489334;15866882;16572171;19913121;20628086 123745 B7WPN2;Q3MJ16 ABBA01038383;AC039056;AI224165;AK127558;AMYH02030280;AMYH02030281;BC101584;BC101612;BC143436;BX648482;NM_001206670 AAI01585;AAI01613;BAC87034;NP_001193599;Q3MJ16 Hs.668060 1736744;1736764;1736776;2124139;5109281 D15S758;D15S768;D15S776;D1S1425;SHGC-7407 FLJ45651;MGC126633;MGC126661 OTTHUMP00000160906;cPLA2-epsilon;cytosolic phospholipase A2 epsilon protein-coding ENSG00000188089 HGNC:24791 13510 VALIDATED 1606120 PLA2G4F phospholipase A2, group IVF ENCODES a protein that exhibits calcium-dependent phospholipase A2 activity (inferred); lysophospholipase activity (inferred); metal ion binding (inferred); INVOLVED IN arachidonic acid secretion (inferred); cellular response to antibiotic (inferred); cellular response to organic cyclic compound (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); lysosome (inferred); ruffle membrane (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); pirinixic acid (ortholog); thioacetamide (ortholog) 15 15 15 q15.1 19201035 19216542 - 42433332 42448839 - 42141134 42156641 - 6480464;8554872 12477932;14702039;15174051;15866882;16572171;19913121;20628086;24324551;9377118;9745929 255189 A5PKZ7;C9J281;H3BMD0;H3BNW4;H3BPX7;H3BSG9;H7BXJ8;Q68DD2 ABBA01038381;AC036103;AK122623;AK172836;AK304368;AL832972;AMYH02030281;BC035335;BC040920;BC111481;BC131531;BC142682;BC146648;BM986790;CH471125;CR749451;NM_213600;NR_033151;XM_005254272 AAH35335;AAI31532;AAI42683;AAI46649;BAD18801;BAG53627;BAG65207;CAH18288;EAW92531;EAW92532;EAW92533;EAW92534;NP_998765;Q68DD2;XP_005254329 Hs.231873 1733654;2139888 D15S625E;SHGC-63492 DKFZp666G192;DKFZp781B229;PLA2G4F/Z;PLA2G4FZ cPLA2-zeta;cytosolic phospholipase A2 zeta protein-coding HGNC:27396 17326 VALIDATED 735328 PLA2G5 phospholipase A2, group V This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p36-p34 18719822 18741514 + 20386157 20418394 + 20059650 20091901 + 1300048;1580863;6480464;6907045;8699517;7240710;8554872 10531350;10751642;10839997;10873151;11080676;11522612;11741884;12124392;12423354;12477932;12796497;12963740;14702039;15259375;15377291;15489334;16040605;16115226;16146426;16476735;16601231;16710414;16785555;16794232;17545304;19913121;20083228;20448053;20628086;22041135;22137173;23650617;24042857;8300559;8838795;8889548;9377118;9745929;9767110 5322 P39877 ABBA01059773;AK097693;AL158172;AMYH02000427;AV709457;AY524778;BC036792;BM684907;BM705479;BX648966;CH471134;NG_032045;NM_000929;U03090;XM_005245891;XM_005245892;XM_005245893;XM_005245895;XM_005245896;XM_006710691;XM_006710692;XM_006710693;XM_006710694;XM_006710695;XM_006710696 AAC28886;AAH36792;AAR92480;BAG53516;EAW94911;EAW94912;EAW94913;NP_000920;P39877;XP_005245948;XP_005245949;XP_005245950;XP_005245952;XP_005245953;XP_006710754;XP_006710755;XP_006710756;XP_006710757;XP_006710758;XP_006710759 Hs.319438 1733054;1788352;1788354;1788356;1788358;2145245;2156597 D1S1402;D1S2402;G67476;G67477;G67478;G67479;SHGC-74306 DKFZp686C2294;FRFB;GV-PLA2;MGC46205;PLA2-10;hVPLA(2) Ca2+-dependent phospholipase A2;OTTHUMP00000002785;calcium-dependent phospholipase A2;group V phospholipase A2;phosphatidylcholine 2-acylhydrolase 5 APPROVED protein-coding ENSG00000127472 HGNC:9038 03117 228980;601192 REVIEWED 1348343 PLAC4 placenta-specific 4 INTERACTS WITH hydralazine; methyl methanesulfonate; valproic acid 21 21 21 q22.2 27745340 27755348 - 42547158 42557166 - 41175231 41185239 - 6480464 12477932;14702039;19892844;19913121;20628086;23312075;23903356;8406465 191585 Q8NAM4;Q8WY50 ABBA01044665;AF269287;AK027868;AK092431;AL773572;AMYH02037856;BC093685;BC101615;BC101617;HC007218;L13197;NM_182832 AAG23170;AAH93685;AAI01616;AAI01618;BAC03888;CBH19414;NP_878252;Q8WY50 Hs.472492 1648860;1648862;1667036;1685816;1731168;1775672;1790639;1794002;1854823;1854825;2132888;2182568;2217758;2220504;5022223;5022651;5125160 A005R16;D11S2921;D21S418E;G20436;PLAC4_3729;PMC310729P6;RH45177;RH79591;SHGC-52036;SHGC-52055;SHGC-87646;SHGC-87652;STS-T66917;STS_CEB270;UniSTS:483705;WI-11358;WI-17388 C21orf115;MGC126664;MGC126666;PRED78 placenta-specific protein 4 protein-coding HGNC:14616 613770 PROVISIONAL 737277 PLAA phospholipase A2-activating protein ENCODES a protein that exhibits phospholipase A2 activator activity (inferred); INVOLVED IN inflammatory response (inferred); phospholipid metabolic process (inferred); positive regulation of catalytic activity (inferred); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH (+)-catechin; 17beta-estradiol; amiodarone 9 9 9 p21 26831534 26875621 - 26903368 26947468 - 26903370 26947470 - 1580863;6480464;6907045 10571045;10644453;11689694;11937510;12477932;14499668;14702039;15164053;15489334;16196087;16344560;17076679;18291623;18781797;19423704;19887378;20185149;20360068;2052621;20574843;20972266;21070969;21139048;21252943;21890473;21906983;21963094;21987572;22053931;22190034;22484374;22505724;22863883;23000965;23703321;23752268;23956138;24457600;25027693;8125298;9931468 9373 E5RIM3;H0YAU9;H0YBW4;H0YC16;Q9Y263 ABBA01065135;AF083395;AF145020;AJ238243;AK001642;AK002143;AK022761;AK223544;AL133608;AL356133;AMYH02019343;BC032551;CH471071;DA591576;NM_001031689 AAD03030;AAD42075;AAH32551;ABW03596;ABW03904;BAA91803;BAA92105;BAD97264;CAB42881;CAB63739;EAW58575;NP_001026859;Q9Y263 Hs.27182 2166904;5015123;5017947;5107753;5109695 AW208417;D9S1061E;D9S1696;MARC_66694-66695:1195518466:3;RH44824 DOA1;FLJ11281;FLJ12699;PLA2P;PLAP DOA1 homolog;OTTHUMP00000021164;OTTHUMP00000226495;phospholipase A-2-activating protein;phospholipase A2 activating protein;phospholipase a2, activating protein protein-coding ENSG00000137055 HGNC:9043 04850 603873 VALIDATED 1351974 PLAC1 placenta-specific 1 INVOLVED IN placenta development; FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; arsenous acid X X X q26 134086692 134179370 - 133699873 133792513 - 134565843 134658483 - 1580863;6480464 10995572;12412044;12477932;14702039;15489334;15608456;15803460;16303743;16594548;16860456;17186554;17554801;17909063;17983203;18183594;19652226;19705800;20509147;21215095;21710262;21890473;21937108;23434395;24304549 10761 Q9HBJ0 ABBA01042457;ABBA01042458;ABBA01042459;ABBA01042460;ABBA01042461;ABBA01042462;ABBA01042463;ABBA01042464;ABBA01042465;ABBA01042466;ABBA01042467;ABBA01042468;ABBA01042469;ABBA01042470;ABBA01042471;AC004383;AF234654;AK075086;AL672032;AMYH02040528;AMYH02040529;BC022335;BC066327;CH471107;CQ783102;NM_021796 AAG22596;AAH22335;AAH66327;ABM82312;ABM85488;BAC11392;CAF86310;EAX11757;NP_068568;Q9HBJ0 Hs.496811 1342003;1644473;1658041;1748201;1748203;2113528;2113532;2135789;2138998;2217754 AL008942;DXS10104A7;DXS10106A11;DXS8041;DXS9780;G66699;G66744;L47788;PLAC1_3776;WIAF-1472 CT92;OOSP2L OTTHUMP00000024066;cancer/testis antigen 92;placenta-specific protein 1 protein-coding ENSG00000170965 HGNC:9044 02245 300296 PROVISIONAL 1318557 PLA2G4B phospholipase A2, group IVB (cytosolic) This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 domains. [provided by RefSeq, Jul 2008] 15 15 15 q11.2-q21.3 18898654 18907988 + 42131011 42140346 + 41838813 41848148 + 1580863;6480464;6907045;8554872 10085124;10358058;10737800;11181995;11741884;12477932;16344560;16617059;17562024;19913121;20056178;20167866;20628086;8889548;9705332;9875225 100137049 H3BSX5;P0C869 ABBA01038386;AC020659;AK124489;AK299419;AK310651;AMYH02030279;BF372565;BM982475;BQ004235;BX648318;CA488226;CH471125;CU447449;DA250544;NG_029927;NM_001114633 BAG61401;EAW92522;NP_001108105;P0C869 Hs.198161 1679948;1693564;1698676;1736504;1853410;5022578;5022588 D15S711E;D1S1423;D5S1597E;RH102897;RH91785;SHGC-58472;WI-13757 DKFZp686N12131;FLJ17693;FLJ42498;FLJ53173;HsT16992;cPLA2-beta OTTHUMP00000201605;OTTHUMP00000210673;cytosolic phospholipase A2 beta;phospholipase A2 group IVB APPROVED protein-coding ENSG00000243708 HGNC:9036 606088 VALIDATED 1344285 PLAC5 placenta-specific 5 p24.3-p22.3 191586 BG354571 protein-coding HGNC:14617 1345117 PLAC7 placenta-specific 7 q13.31 191587 BG354573 Hs.656741 protein-coding HGNC:14619 1313284 PLA2G3 phospholipase A2, group III This gene encodes a protein that belongs to the secreted phospholipase A2 family, whose members include the bee venom enzyme. The encoded enzyme functions in lipid metabolism and catalyzes the calcium-dependent hydrolysis of the sn-2 acyl bond of phospholipids to release arachidonic acid and lysophospholipids. This enzyme acts as a negative regulator of ciliogenesis, and may play a role in cancer development by stimulating tumor cell growth and angiogenesis. This gene is associated with oxidative stress, and polymorphisms in this gene are linked to risk for Alzheimer's disease. [provided by RefSeq, Apr 2014] 22 22 22 q12.2 15330868 15336544 - 31530793 31536469 - 31134807 31140483 - 1580863;6480464;6907045;8554872 10591208;10713052;12127976;12477932;12522102;15489334;15863501;17868035;17980167;18801741;19371233;19541351;19805624;19851296;20056178;20198315;20393563;20492356;20654644;20930276;21701769;21848517;21988832;23624557;23685814;23776197;23793742;24508801;24692702;9377118;9745929 50487 Q9NZ20 ABBA01055321;AC005005;AF220490;AMYH02038232;BC025316;CH471095;NM_015715 AAD15617;AAF44746;AAH25316;ABM83758;ABM87077;EAW59941;NP_056530;Q9NZ20 Hs.149623 1686184;2157509;2158212;5093060 A009F03;G32496;RH70642;STS-R40003 GIII-SPLA2;SPLA2III GIII sPLA2;OTTHUMP00000199498;group 3 secretory phospholipase A2;group III secreted phospholipase A2;group III secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 3;phosphatidylcholine 2-acylhydrolase GIII;sPLA2-III APPROVED protein-coding ENSG00000100078 HGNC:17934 07144 611651 REVIEWED 1350138 PLA2R1 phospholipase A2 receptor 1, 180kDa This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] 2 2 2 q23-q24 154409843 154530612 - 160788523 160919126 - 159932012 160062615 - 1580863;6480464;6907045;8554872 10737800;10864436;10922494;11019817;12107411;12225974;12477932;15342556;15611272;19197340;19571279;19730683;20639394;20805699;20937089;21323541;22371247;22673885;23194743;23196797;23364522;23431073;23813219;23903693;24262501;24327152;24610926;24779214;24939538;7721806;7925459 22925 B7ZML4;Q13018 ABBA01004870;AC080166;AC093873;AI672072;AL598405;AMYH02005080;AMYH02005081;BC140823;BC144631;BF725498;BF805380;BP351340;BQ025507;BQ637466;BX485732;CH471058;D30780;NM_001007267;NM_001195641;NM_007366;U17033;U17034;W15508;XM_005246392;XM_005246393;XM_005246395;XM_006712369 AAA70110;AAC50163;AAI40824;AAI44632;AAY24052;AAY24190;BAA06444;EAX11391;EAX11392;EAX11393;NP_001007268;NP_001182570;NP_031392;Q13018;XP_005246449;XP_005246450;XP_005246452;XP_006712432 Hs.410477 1700642;1847912;2186507 RH103944;RH45253;SHGC-35506 CLEC13C;PLA2-R;PLA2G1R;PLA2IR;PLA2R 180 kDa secretory phospholipase A2 receptor;C-type lectin domain family 13 member C;M-type receptor;OTTHUMP00000205042;OTTHUMP00000205043;phospholipase A2 receptor 1, 180kD;secretory phospholipase A2 receptor APPROVED protein-coding ENSG00000153246 HGNC:9042 09222 604939 REVIEWED 1342779 PLAC8L1 PLAC8-like 1 INTERACTS WITH amiodarone; copper atom; copper(0) 5 5 5 q32 141543818 141563885 - 145463876 145483946 - 146084313 146104383 - 6480464 12477932 153770 A1L4L8;D6RBV4 ABBA01026345;AC091887;AMYH02012402;AMYH02012403;BC130586;BC130588;BC144387;BC144388;BC144389;BC144392;CH471062;NM_001029869;XM_005268381 A1L4L8;AAI30587;AAI30589;ADR82838;EAW61851;NP_001025040;XP_005268438 Hs.162369 OTTHUMP00000223867;PLAC8-like protein 1 protein-coding ENSG00000173261 HGNC:31746 18737 PROVISIONAL 1321810 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009] 6 6 6 p21.2-p12 48224575 48255899 - 46672053 46703430 - 46704316 46735693 - 1581024;1581025;1580863;6480464;6482785;6482780;6482781;6482748;6482773;6482777;6482771;6482776;6482774;6482783;6482784;6482786;6482772;6482770;6482775;6482782;6482769;6482778;6482779;7240710;7248796;7248795;7248787;7248792;7257515;7257517;7248793;7248794;7248791;7257516;7248790 10430976;10733466;10748027;10873870;11807372;12220450;12590019;15115767;15292677;15699277;16213192;16278861;16421163;16952920;17070179;17326817;18201705;19644070;19886071;21172452;21698055;21970837;22024276;22075154;22112193;22246459;22340269;22399516;22499993;8692015;8730430;9853251 10362256;11248283;11294621;11369691;11389474;11501940;11810302;11850055;11861667;12068200;12428682;12466264;12477932;12548211;12649088;12782155;12801611;14671207;14749286;15081260;15148590;15215249;15318030;15342556;15364890;15489334;15956136;16086290;16223884;16308493;16371369;16438975;16530769;16787988;17090529;17092424;17160904;17174223;17207965;17251670;17502572;17509958;17587752;17908960;17981297;18001304;18061193;18094516;18165686;18204052;18259035;18356547;18383322;18408575;18431085;18434304;18587071;18660489;18779277;18784071;18789441;18832472;18930040;18983494;19034521;19069165;19135199;19247692;19272461;19336475;19359705;19373214;19500354;19578796;19583678;19596311;19763134;19804884;19850020;19892409;19910444;19913121;19948975;20067121;20080080;20185515;20185811;20200624;20331434;20367923;20442857;20444451;20479152;20507838;20625038;20628086;20634581;20926117;21107710;21155029;21176638;21247435;21281786;21316774;21432021;21476960;21490708;21553808;21606947;21616491;21620406;21708876;21714927;21834908;21880383;21882811;21933589;21942556;22003152;22028154;22139405;22153151;22164942;22178747;22197603;22202492;22300679;22338104;22359537;22447189;22632920;22665167;22755553;22784637;22797139;22859728;22898284;23000965;23083783;23089713;23089916;23103135;23118302;23118945;23140470;23361301;23413990;23439604;23546765;23555769;23623642;23746626;23747086;24008317;24089018;24092915;24161325;24393260;24416164;24580749;7592717;7700381;8624782;8675689;9245731;9377118;9384577;9412624;9472966;9745929;9759612 7941 B4DLM5;Q13093 ABBA01050614;ABBA01050615;AK290381;AK294471;AK297066;AL451143;AL591242;AMYH02013688;BC025674;BC038452;BP326231;CH471081;NG_016204;NM_001168357;NM_005084;U20157;U24577;XM_005249408;XM_005249409 AAB04170;AAC50126;AAH38452;ADQ33028;BAF83070;BAG57699;BAG59587;EAX04301;EAX04302;NP_001161829;NP_005075;Q13093;XP_005249465;XP_005249466 Hs.584823 2150670;5125032 RH70216;RH71209 LDL-PLA(2);LDL-PLA2;LP-PLA2;gVIIA-PLA2 1-alkyl-2-acetylglycerophosphocholine esterase;2-acetyl-1-alkylglycerophosphocholine esterase;LDL-associated phospholipase A2;OTTHUMP00000016555;PAF 2-acylhydrolase;PAF acetylhydrolase;PAFAD;PAFAH;group-VIIA phospholipase A2;lipoprotein-associated phospholipase A2;platelet-activating factor acetylhydrolase APPROVED protein-coding ENSG00000146070 HGNC:9040 03407 147050;600807;601690;614278 REVIEWED 1315403 PLAC9 placenta-specific 9 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH arsane; arsenic atom; benzo[a]pyrene diol epoxide I 10 10 10 q22.3 75883196 75895722 + 81892258 81904784 + 80132502 80145028 + 6480464;8554872 12477932;12758124;15164054;15489334;21988832 219348 Q5JTB4;Q5JTB5;Q5JTB6 ABBA01003809;ABBA01003810;AL356095;AMYH02023415;BC066348;BC090922;BC117332;BC117334;CH471142;NM_001012973 AAH66348;AAH90922;AAI17333;AAI17335;ABZ92525;ADR82783;EAW80406;EAW80407;EAW80408;NP_001012991;Q5JTB6 Hs.204947 1653603 RH46465 MGC104710 OTTHUMP00000019946;OTTHUMP00000019947;OTTHUMP00000019948;placenta-specific protein 9 protein-coding HGNC:19255 18491 612857 PROVISIONAL 1317514 PLAGL2 pleiomorphic adenoma gene-like 2 Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 27536659 27551898 - 30780307 30795546 - 32192504 32207743 - 1580863;6480464 11498794;11780052;12477932;15361364;15489334;15585652;17462995;17551969;17618602;17950244;18029348;18655774;19574421;20025940;20379614;20478531;22076304;8724849;9722527 5326 Q9UPG8 ABBA01019280;AF006005;AK026951;AK292450;AL121897;AMYH02036920;BC023655;CH471077;CQ834146;D83784;HI574214;NM_002657;XM_005260436 AAC34252;AAH23655;ABM83213;ABW03483;BAA12113;BAF85139;CAH05288;CBX47596;EAW76386;EAW76387;NP_002648;Q9UPG8;XP_005260493 Hs.154104 1720867;1797994;2173811 G59261;PLAGL2_1372;RH25411 FLJ23283;ZNF900 C2H2-type zinc finger protein;OTTHUMP00000030585;pleiomorphic adenoma-like protein 2;zinc finger protein PLAGL2 APPROVED protein-coding ENSG00000126003 HGNC:9047 05333 604866 REVIEWED 1313225 PLAG1 pleiomorphic adenoma gene 1 Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 q12 53064260 53082827 - 57073463 57123859 - 56160904 56211300 - 1599086;1580863;6480464;7240710;8699517;8554872 10029085 10646861;10987300;11882654;11888928;11894114;12477932;14695992;15174051;15208321;15231748;15262430;15585652;15642402;15920557;15930271;16108035;16344560;16736500;17332914;17693184;18059337;18269579;18391951;19266077;19343178;19347935;19396169;19692702;19893584;20189936;20522588;20546612;20687796;20881960;21394649;21927843;22038920;22192798;22485045;22593475;23023303;23404581;23554918;23630011;23690029;23738717;24468654;9020842;9268638;9525740;9722527 5324 Q6DJT9 A69511;AB209131;ABBA01041763;ABBA01041764;AC107952;AF221550;AK296933;AK313663;AMYH02018019;BC075047;BC075048;CH471068;DA225321;DC347559;EF525168;EF525169;EF525170;NG_023310;NM_001114634;NM_001114635;NM_002655;U65002;XM_005251260 AAC50995;AAH75047;AAH75048;ABW87255;ABZ92429;BAD92368;BAG36415;BAG59484;CAB42491;EAW86774;EAW86775;NP_001108106;NP_001108107;NP_002646;Q6DJT9;XP_005251317 Hs.14968 1648268;1779138;2113130;2113140;2141751;5093922;5122881;7186343 A009Z02;COL1A2;D8S2308;D8S2313;G33002;RH12848;SGC34502 PSA;SGPA;ZNF912 COL1A2/PLAG1 fusion;OTTHUMP00000226422;OTTHUMP00000226423;OTTHUMP00000226424;Pleomorphic adenoma gene 1;pleiomorphic adenoma gene 1 protein;zinc finger protein PLAG1 APPROVED protein-coding ENSG00000181690 HGNC:9045 04321 181030;603026 REVIEWED 732454 PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010] 22 22 22 q13.1 22312199 22382453 - 38507502 38577857 - 38111495 38192051 - 1580863;6480464;6482737;6482741;6482740;6482748;6482735;6482738;6482732;6482733;6482718;6482734;6482739;6482736;6907045;7240710;8554872;8699517 15003994;17033970;18305254;18718965;19087156;19138334;19893029;20938027;21172452;21368765;21868473;22442204 10092647;10336645;10591208;12208880;12423354;12477932;14634037;14702039;14749286;15052324;15249229;15252038;15318030;15364929;15385540;15461802;15489334;15573142;16585943;16783378;16799181;16943248;16966332;17003039;17082190;17188740;17254819;17275398;17459165;18029348;18208975;18562188;18570303;18676680;18775417;18790994;18799783;18826942;19029121;19059366;19164547;19170196;19225567;19556238;19578364;19578365;19625176;19692168;19913121;20053941;20171194;20186954;20219570;20301334;20301402;20301718;20379614;20464283;20584031;20619503;20628086;20629144;20647408;20669327;20686565;20813170;20881058;20886109;21191104;21478494;21482170;21700586;21812034;21983787;22213678;22218592;22406380;22459563;22549787;22680611;22903185;23007400;23043102;23074238;23182313;23196729;23277130;23447832;23587695;23824909;24097068;24130795;24522175;24791136;9079687;9377118;9417066;9745929 8398 A8K460;B0QYE9;B7Z6K3;E7EX67;F2Z3G2;F8WEN3;F8WEQ9;H0Y4M7;H0Y6T3;H0Y6W2;H0Y7G5;H7C3P5;M0R1Q9;M0R3D9;O60733 ABBA01055505;ABBA01055506;AF064594;AF102988;AF102989;AF116267;AF117692;AK001290;AK096521;AK128862;AK290825;AK291212;AK300459;AK308308;AL021977;AL022322;AL080187;AMYH02038354;AMYH02038355;AY522921;BC034592;BC036742;BC051904;CH471095;CR456543;NG_007094;NM_001004426;NM_001199562;NM_003560;XM_005261764;XM_005261765;XM_005261766;XM_005261771;XM_006724332;XR_244390;XR_244392;XR_430411;XR_430412 AAC97486;AAD30424;AAD41722;AAD41723;AAF34728;AAH36742;AAH51904;AAR92478;BAF83514;BAF83901;BAG53314;BAH13289;CAB45768;CAG30429;CAK54574;CAK54873;EAW60219;EAW60220;NP_001004426;NP_001186491;NP_003551;O60733;XP_005261821;XP_005261822;XP_005261823;XP_005261828;XP_006724395 Hs.170479 1690886;1711496;1711498;1711500;1711502;1711504;1711506;1711508;1711510;1711512;1711514;1711516;1711770;1733254;1778238;1796518;5016596;5020740;5024413 AL022554;D22S622;G49249;G49250;G49251;G49252;G49253;G49254;G49255;G49256;G49257;G49258;G49259;G49410;GDB:631802;L17809;L17877;PLA2G6_1043;RH99077 CaI-PLA2;GVI;INAD1;IPLA2-VIA;NBIA2;NBIA2A;NBIA2B;PARK14;PLA2;PNPLA9;iPLA2;iPLA2beta 85 kDa calcium-independent phospholipase A2;85/88 kDa calcium-independent phospholipase A2;GVI PLA2;OTTHUMP00000199456;OTTHUMP00000199457;calcium-independent phospholipase A2;cytosolic, calcium-independent phospholipase A2;group VI phospholipase A2;iPLA2-beta;intracellular membrane-associated calcium-independent phospholipase A2 beta;neurodegeneration with brain iron accumulation 2;patatin-like phospholipase domain containing 9;patatin-like phospholipase domain-containing protein 9;phospholipase a2, group vi APPROVED protein-coding ENSG00000184381 HGNC:9039 04675 256600;603604;610217;612953 REVIEWED 1346755 PLB1 phospholipase B1 ENCODES a protein that exhibits hydrolase activity, acting on ester bonds (inferred); lipase activity (inferred); lysophospholipase activity (inferred); INVOLVED IN glycerophospholipid biosynthetic process (inferred); lipid catabolic process (inferred); lipid metabolic process (inferred); PARTICIPATES IN retinol metabolic pathway; arachidonic acid metabolic pathway; glycerophospholipid metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; valproic acid; 17beta-estradiol (ortholog) 2 2 2 p23.2 28563939 28712193 + 28718938 28866654 + 28496071 28643788 + 737633;6480464;6484679;6903951;6907045;8554872 12477932;21718801;8117729 12150957;12804600;14702039;15583024;8017323 151056 B2RWP8;C9JYQ2;H7BYX7;H7BZW4;H7C012;H7C1D3;H7C2A5;Q6P1J6 ABBA01045236;ABBA01045237;AC074011;AC093164;AK055428;AMYH02003496;AX492941;BC042674;BC065041;BC150633;BC153864;BX109719;CH471053;KF510808;NM_001170585;NM_153021 AAH42674;AAH65041;AAI50634;AAI53865;AAY24081;AAY24082;BAB70920;EAX00532;EAX00533;EAX00534;EAX00535;EAX00536;NP_001164056;NP_694566;Q6P1J6 Hs.444933 1684309 RH92190 PLB;PLB/LIP;hPLB OTTHUMP00000200975;OTTHUMP00000214100;lysophospholipase;phospholipase A2;phospholipase B;phospholipase B/lipase;phospholipase B1, membrane-associated protein-coding ENSG00000163803 HGNC:30041 15141 610179 VALIDATED 1317680 PLAC8 placenta-specific 8 ENCODES a protein that exhibits chromatin binding (inferred); INVOLVED IN brown fat cell differentiation (inferred); defense response to bacterium (inferred); negative regulation of apoptotic process (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 4 4 4 q21.22 81301714 81326359 - 84011201 84035911 - 83090048 83114758 - 6480464 11042152;12384430;12477932;12758124;16189514;18624398;19322201;20072156;21963094;22920440;23708710;24691442 51316 D6RA24;Q9NZF1;X2BQ60 ABBA01063456;ABBA01063457;ABBA01063458;ABBA01063459;AC073840;AF208846;AJ422147;AK000140;AMYH02009613;BC012205;BI824905;CH471057;DQ007338;EU570985;EU570986;FJ795024;FJ882405;HC767538;HC876527;NM_001130715;NM_001130716;NM_016619 AAF64260;AAH12205;AAY56126;ACO37643;CAD19530;CBM40550;CBM42822;EAX05923;EAX05924;EAX05925;NP_001124187;NP_001124188;NP_057703;Q9NZF1 Hs.546392 1709690 SHGC-86332 C15;DGIC OTTHUMP00000160805;OTTHUMP00000219375;OTTHUMP00000219376;OTTHUMP00000219377;onzin;placenta-specific gene 8 protein protein-coding ENSG00000145287 HGNC:19254 06335 607515 VALIDATED 8695037 PLBD1-AS1 PLBD1 antisense RNA 1 ASSOCIATED WITH DIARRHEA 6 (inferred) 12 12 p13.1 14720925 14772719 + 14568177 14624210 + 8554872 16344560 101928290 ABBA01067880;ABBA01067881;AC007545;AC008114;AI922058;AMYH02026094;CB048614;DB284711;HG504543;HG504544;NR_120465;XR_242917;XR_247784;XR_253023;XR_424323 Hs.131933;Hs.624018 ncrna HGNC:51143 VALIDATED 736872 PLAGL1 pleiomorphic adenoma gene-like 1 This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activities. It has been shown to have anti-proliferative properties, and thus thought to function as a tumor suppressor. In addition, overexpression of this gene during fetal development is believed to underlie the rare disorder, transient neonatal diabetes mellitus (TNDM). This gene is imprinted, with preferential expression of the paternal allele in many tissues, however, biallelic expression has been noted in peripheral blood leucocytes. A recent study reports that tissue-specific imprinting results from variable utilization of monoallelic and biallelic promoters. Many transcript variants differing in the 5' UTR and encoding two different isoforms, have been found for this gene. [provided by RefSeq, Oct 2010] 6 6 6 q24-q25 145001862 145126194 - 144261437 144385736 - 143940300 144064599 - 1580863;6480464;7240710;8554872 10597250;10655556;11313869;11360197;11935319;12473647;12477932;12529403;14702039;15208321;15231748;15286800;15581945;15592663;15888725;15888726;16112421;16179495;16344560;16733217;16809786;16873690;16928428;17178896;17336575;17341487;17805016;18644983;18663001;19155788;19423711;19694203;20097304;20175198;20301706;20363751;20487506;20518900;21305342;21872827;21963094;22001409;22227369;22784302;23153226;23295672;23333304;23415968;24098585;24260468;9150364;9158001;9184226;9671765;9722527 5325 A1YLA1;A1YLA2;Q9UM63 ABBA01025742;ABBA01025743;AI741398;AJ006354;AJ303119;AJ311395;AK091707;AK096331;AK314570;AK315184;AL031390;AL049844;AL109755;AMYH02014641;AW136077;BC074814;BC109085;BC109086;BX537397;CH471051;CQ834142;CQ834144;CR749329;DA385311;DA391124;DA426770;DA446007;DA549753;DA595200;DA675185;DA717476;DA806571;DA991276;EF100438;EF100439;EF100440;EF100441;EF100442;EF100443;EF100444;EF100445;EF100446;EF100447;EF100448;EF100449;EF100450;EF100451;EF100452;KF458320;NG_009384;NM_001080951;NM_001080952;NM_001080953;NM_001080954;NM_001080955;NM_001080956;NM_001289037;NM_001289038;NM_001289039;NM_001289040;NM_001289041;NM_001289042;NM_001289043;NM_001289044;NM_001289045;NM_001289046;NM_001289047;NM_001289048;NM_001289049;NM_002656;NM_006718;U72621;U81992 AAB67041;AAC34250;AAH74814;AAI09086;AAI09087;ABM54075;ABM54076;ABM54077;ABM54078;ABM54079;ABM54080;ABM54081;ABM54082;ABM54083;ABM54084;ABM54085;ABM54086;ABM54087;ABM54088;ABM54089;BAG37151;BAG37625;CAA06994;CAC39614;CAC39615;CAD97639;CAH05286;CAH05287;CAH18183;EAW47852;EAW47853;EAW47854;EAW47855;EAW47856;NP_001074420;NP_001074421;NP_001074422;NP_001074423;NP_001074424;NP_001074425;NP_001275966;NP_001275967;NP_001275968;NP_001275969;NP_001275970;NP_001275971;NP_001275972;NP_001275973;NP_001275974;NP_001275975;NP_001275976;NP_001275977;NP_001275978;NP_002647;NP_006709;Q9UM63 Hs.743225 1658721;1661363;1661365;1669260;1694632;1705814;1731122;1751069;2130580;2132466;2177894;2183343;2217760 A001Z41;AL021864;D6S355;G19829;G43356;HSC2SH082;PLAGL1_3285;RH18258;RH46851;RH69222;SHGC-105025;SHGC-79847;WI-11634 DKFZp781P1017;LOT-1;LOT1;MGC126275;MGC126276;PLAG-like 1;ZAC;ZAC1 OTTHUMP00000017344;OTTHUMP00000017345;OTTHUMP00000017346;OTTHUMP00000017347;OTTHUMP00000017348;ZAC tumor supressor;lost on transformation 1;pleiomorphic adenoma gene-like protein 1;pleiomorphic adenoma-like protein 1;tumor suppressor ZAC;tumor supressor ZAC;zinc finger protein PLAGL1 APPROVED protein-coding ENSG00000118495 HGNC:9046 16010 601410;603044 REVIEWED 1606689 PLBD2 phospholipase B domain containing 2 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN lipid catabolic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH cobalt dichloride; ammonium chloride (ortholog); clofibrate (ortholog) 12 12 12 q24.13 113423600 113454718 + 113796371 113827458 + 113358566 113389653 + 6480464 12477932;15146197;15193148;17105447;21906983;21963094;22268729;22939629 196463 H0YIX0;Q8NHP8 ABBA01019957;ABBA01019958;AC010178;AMYH02027240;AMYH02027241;BC030618;CH471054;CN412955;NM_001159727;NM_173542 AAH30618;EAW98052;EAW98053;NP_001153199;NP_775813;Q8NHP8 Hs.115896 1683601;2160118 RH94379;WI-21995 P76 76 kDa protein;LAMA-like protein 2;OTTHUMP00000241557;OTTHUMP00000241558;PLB homolog 2;lamina ancestor homolog 2;mannose-6-phosphate protein associated protein p76;phospholipase B domain-containing protein 2;phospholipase B-like 2 32 kDa form;phospholipase B-like 2 45 kDa form;putative phospholipase B-like 2 protein-coding ENSG00000151176 HGNC:27283 14116 VALIDATED 6481050 PLCB1-IT1 PLCB1 intronic transcript 1 (non-protein coding) p12.3 7566098 100874337 AA383306;AA609630;AL021406 Hs.662218 ncrna HGNC:41414 1605619 PLBD1 phospholipase B domain containing 1 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN glycerophospholipid biosynthetic process (inferred); lipid catabolic process (inferred); phosphatidylcholine acyl-chain remodeling (inferred); FOUND IN cytosol (inferred); lysosome (inferred); INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; all-trans-retinoic acid; gefitinib 12 12 12 p13.1 19801692 19865899 - 14656597 14720791 - 14503663 14567857 - 6480464 12477932;15193148;19019078;21139048;21674799;21832049;22952603;8125298 79887 F5GYQ3;F5H053;Q6P4A8 ABBA01067877;ABBA01067878;ABBA01067879;ABBA01067880;AC008114;AI370813;AK026315;AK225458;AK290914;AMYH02026092;AMYH02026093;AMYH02026094;BC000909;BC063561;BQ721063;BU859334;CB993231;CD366142;CH471094;NM_024829 AAH00909;AAH63561;BAB15442;BAF83603;EAW96322;EAW96323;NP_079105;Q6P4A8 Hs.131933 1669088;1721393;1726049;1847311;2143649 G59698;G62280;RH44723;RH46549;SHGC-33769 FLJ22662 LAMA-like protein 1;OTTHUMP00000239536;PLB homolog 1;lamina ancestor homolog 1;phospholipase B domain-containing protein 1;phospholipase B-like 1;putative phospholipase B-like 1 protein-coding HGNC:26215 08660 VALIDATED 733094 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p12 8182881 8935778 + 8112912 8865547 + 8132265 8884900 + 1581031;1300048;1580863;2314514;5131495;5131502;6480464;6484113;6907045;7240710;8699517;8554872 11395409;15240149;17524618;9521338 10501179;10760467;10843712;10980202;11118617;11148035;11278470;11287604;11481231;11743656;11753430;11780052;11880496;11941371;12168954;12193606;12213492;12477932;12482669;12799190;12821674;1322796;14702039;15085153;15489334;15611108;15623527;15782111;16136505;16860758;16916647;17041247;17335878;17363325;17393430;17620288;18203956;18632858;18649358;18692062;18957514;19114693;19199708;19240061;19491339;19519170;19729020;19734545;1979339;20056178;20125193;20171262;20336759;20379614;20936779;21091263;21139048;21338571;21663700;22076473;22286107;22459146;22507702;22664479;22690784;22889834;22939629;23006664;23058275;23263487;23333304;23518928;23555755;23656785;23659438;23916604;24035496;24076015;24296032;24338081;2841328;7589147;8872139;8878798;8889548;9198220;9278385;9500449;9628581;9651375;9730685 23236 B1AK73;H0YCJ2;Q8IV91;Q8IV92;Q9NQ66 AB011153;ABBA01053921;ABBA01053922;ABBA01053923;ABBA01053924;ABBA01053925;ABBA01053926;AJ278313;AJ278314;AK023689;AK127693;AK299195;AK310597;AL021406;AL031655;AL031683;AL034551;AL049593;AL049632;AL050315;AL050319;AL050323;AL121589;AL137267;AL365212;AMYH02036678;AMYH02036679;AMYH02036680;AMYH02036681;AMYH02036682;AMYH02036683;AMYH02036684;AMYH02036685;AY004175;BC069420;BC117231;BQ184058;CH471133;HB877222;HB895856;HC934631;HC953265;KF456806;KF456807;KF456810;KF456814;KF456816;KF510482;KF511324;NG_028168;NM_015192;NM_182734;XM_005260681;XM_006723555 AAF86613;AAH69420;AAI17232;ADR83291;BAA25507;BAB14641;BAG54550;BAG61238;CAB70666;CAB98142;CAB98143;CBF62960;CBF74720;CBU87836;CBU96783;EAX10372;EAX10373;EAX10374;EAX10375;EAX10376;NP_056007;NP_877398;Q9NQ66;XP_005260738;XP_006723618 Hs.431173 1337730;1338506;1341959;1644729;1647680;1649691;1656270;1656376;1659506;1673894;1684447;1695710;1700952;1706494;1708666;1720123;1759627;1767089;1770782;1783060;1796520;1847185;1854481;1858281;2119204;2125880;2129358;2135220;2139298;2148302;2150106;2154139;2158593;2159190;2169059;2180602;7191061;7191063 A006R17;A007B46;AFMa114xe5;AL021622;AL031205;AL031206;D20S177;D20S580E;D20S594E;D20S819;D20S851;D20S879;G18109;PLCB1__1209;RH104103;RH123804;RH48470;RH69828;RH78853;RH92761;SHGC-151239;SHGC-152473;SHGC-81138;SHGC-81474;SHGC-82613;STS-AA009431;WI-17062;WI-17184;Z94354;Z94408;Z94450;Z94569;Z94577;Z94580;Z94672;Z94679 EIEE12;FLJ45792;PI-PLC;PLC-154;PLC-I;PLC154;PLCB1A;PLCB1B 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate;1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-1;OTTHUMP00000030236;OTTHUMP00000030237;OTTHUMP00000030238;OTTHUMP00000030239;PLC-beta-1;inositoltrisphosphohydrolase;monophosphatidylinositol phosphodiesterase;phosphoinositidase C;phosphoinositide phospholipase C-beta-1;phospholipase C-I;phospholipase C-beta-1;triphosphoinositide phosphodiesterase APPROVED protein-coding ENSG00000182621 HGNC:15917 06177 607120;613722 REVIEWED 6481143 PLCB2-AS1 PLCB2 antisense RNA 1 q15.1 100874186 AC020658;AW236946 Hs.355888 APPROVED ncrna HGNC:43662 736468 PLAT plasminogen activator, tissue This gene encodes tissue-type plasminogen activator, a secreted serine protease which converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. Tissue-type plasminogen activator is synthesized as a single chain which is cleaved by plasmin to a two chain disulfide linked protein. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding; decreased activity leads to hypofibrinolysis which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 8 8 8 p12 40981190 41014147 - 42032236 42065242 - 42174718 42207676 - 1580875;1580876;1580877;1580878;1580879;1580880;1580881;1580863;2311666;2311667;2311668;2311669;2311670;2311671;2311663;2311673;2311674;2311675;2311676;2311665;2311664;2311672;2311677;6480464;6484139;6484215;6483826;6483827;6483831;6484134;6907045;7240710;8699517 11848437;12818410;14512838;14652638;14693179;15223382;15846799;15882815;15901895;15976969;16038272;16179568;16320350;16598198;16724515;17040480;17259140;17275886;17636064;17689411;18235054;18249307;18467699;18571586;18716863;18718505;18945481;20035854 10340997;10543954;10632583;10956663;11170397;11371191;11384978;11385207;11450845;11507973;11734662;11734664;11816707;11858184;11864703;11864708;11928812;11928826;11963567;11978811;11986218;11988309;12023848;12090757;12123488;12167592;12228252;12354288;12390834;12445472;12468550;12468767;12477932;12484521;12524082;12544724;12544772;12589088;12643326;12694198;12719777;12719778;12726991;12727218;12794725;12891381;12913003;12941043;1301152;1310033;1368681;14500731;14529669;14592829;14608053;14630788;14697941;14746139;14759258;14983221;15016824;1502153;15031453;15080889;15109703;15116264;15119966;15140132;15207811;15269833;15448144;15466927;15489334;15541709;15542697;15550028;15629242;15652516;15721275;15861134;15869598;15916851;16015279;1602484;16037259;16113755;16248996;1632457;16344560;16356191;16369808;16385091;16410064;1645336;16466010;16614319;16706993;16733850;16828203;16836660;16839347;16879221;16953275;1695900;17003923;17064755;17145060;17151781;17207964;17257155;17264956;17287634;17320454;17408411;17419735;17458906;17473573;17608581;1762144;17649957;17661167;17681507;17689414;1783394;17934860;17986506;18023202;18029284;18029348;18037995;18057060;18194423;18202522;18289715;18321860;18331597;18419748;18449420;18468424;18472001;18541262;18574075;18629628;18647223;18662099;18690354;18714030;18720901;18818748;18922856;18953568;18974842;18977990;18983502;1900431;1901789;19019335;19061349;19085655;19088796;1909331;19116134;19171142;19176991;19217651;19222708;19238444;19257978;19290852;1930175;19356953;19483400;19492158;19513384;19526059;19527514;19538480;19578796;19698976;19718485;19730683;19874473;19913121;19929406;19948975;20097831;20140262;20217999;20218002;20409678;20445443;20447686;20452482;20472470;20500107;20508517;20559098;20628086;20628624;20673868;20686427;20811636;20838737;20845058;21034162;2107490;2107528;21082259;2110366;21158116;21174002;21282301;21304999;21314733;21392255;21414238;21437359;21501649;21576385;21791417;21848677;21868730;21898905;21900343;22027013;22035541;22037173;22104068;22178875;22187433;22240314;22577291;22610100;22771216;22778398;22787391;22957978;23082219;23117722;23118500;23161549;23306318;23317922;23326456;23423137;23570848;23788583;23939410;23959729;24108470;24114008;24126163;24129569;24145699;24578379;24709679;24764453;24918201;24964508;2496749;2503541;2513186;2551064;2558718;2745554;2838384;2962641;3009482;3087818;3088041;3090045;3090401;3103680;3126346;3133640;3161893;3896853;6089198;6337343;6433976;6538514;6538515;6572897;6682760;7582899;7586269;7721771;7876253;8360181;8366113;8508955;8533091;8607113;8613982;9268299;9305622;9359841;9434908;9988531 5327 B4DN26;B4DNJ1;E5RGA1;E5RHG4;E7ESF4;H0YBH9;P00750 A01465;A03776;A07197;ABBA01021151;AC083973;AC103724;AF260825;AK289387;AK290575;AK297738;AK297937;AK299205;AK300984;AK313342;AMYH02017889;AY221101;AY291060;BC002795;BC007231;BC013968;BC018636;BC095403;BT007060;BX641021;CH471080;CS123925;CS417360;D01096;DA031108;DA549782;FM956488;K03021;L00153;M11890;M15518;M18182;NG_023264;NM_000930;NM_033011;V00570;X02901;X07393;X13097;X77531 AAA36800;AAA60111;AAA61213;AAA98809;AAB59510;AAH02795;AAH07231;AAH13968;AAH18636;AAH95403;AAK11956;AAO34406;AAP34246;AAP35709;ABM84425;ABM87486;ACE86435;ACE87110;BAA00881;BAF82076;BAF83264;BAG36145;BAG60088;BAG60253;BAG61245;BAG62604;CAA00166;CAA00299;CAA00642;CAA23833;CAA30302;CAA31489;CAA54669;CAI46259;CAJ18783;CAL48222;CAX11668;EAW63231;EAW63232;EAW63233;EAW63234;EAW63235;NP_000921;NP_127509;P00750 Hs.491582 1684904;1740953;1741837;1741839;1741867;1744095;1797996;2163493;2167835 D2S2567;GDB:176412;GDB:185497;GDB:185498;GDB:186200;GDB:386840;NIB234;PLAT_65.3;RH40525 DKFZp686I03148;T-PA;TPA OTTHUMP00000225783;OTTHUMP00000225784;OTTHUMP00000225785;OTTHUMP00000225786;OTTHUMP00000225787;OTTHUMP00000225788;alteplase;plasminogen activator, tissue type;reteplase;t-plasminogen activator;tissue plasminogen activator (t-PA);tissue-type plasminogen activator APPROVED protein-coding ENSG00000104368 HGNC:9051 01419 173370;612348 REVIEWED 735638 PLAUR plasminogen activator, urokinase receptor This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008] 19 19 19 q13 40952740 40977471 - 44150247 44174498 - 43646095 43670346 - 1580897;1580863;6480464;6483789;6484121;6483804;6483806;6484122;6484118;6483810;6484129;6483796;6484116;6483791;6483820;6483799;6483829;6484128;6483800;6484119;6483816;6483797;6483813;6483787;6483788;6484146;6484113;6484133;6483792;6484114;6484120;6483828;6483832;6484117;6907045 12393744;1304722;17651644;18197443;18359089;18606671;18691743;19435793;19459212;19461880;19527776;19926968;20138161;20142364;20229356;20693875;20952728;21114432;21332843;21372607;21384094;21573723;21711960;21722073;21971819;22011479;22050462;22119508;22550400;22577342 10388537;10537314;10636902;10722370;10744708;10749881;11051819;11097855;11290596;11359936;11384978;11501527;11728456;11756447;11814408;11903048;11928806;11928807;11928816;11928822;11959893;12017319;12023845;12023847;12070711;12084931;12115506;12124797;12130664;12138365;12174885;12180971;12194987;12195704;12244126;12297505;12376466;12393547;12405290;12477932;12479856;12493773;12665127;12665524;12704669;12708473;12736046;12761227;12881310;12933356;12952933;12960238;1311495;1316922;1324136;1325912;14500474;14507113;14517288;14517339;14520707;14531820;14563447;14601049;14602715;14660675;14688365;14702177;14729600;14764427;14764580;14961171;14995994;15031282;15031672;15032076;15042374;15044324;15057824;15122709;15182581;15188055;15243126;15248186;15285727;15302576;15326109;15358545;15375521;15381392;15489334;15494432;15494526;15515049;15521066;15543615;15573379;15677461;15684035;15711734;15728176;15824107;15831288;15841307;15849776;15851910;15861141;15863511;15866865;15885322;15889147;15894933;15922359;15951330;16010978;16077991;16127174;16169070;16216813;16267271;16395714;16456079;16467878;16497155;16504015;16510444;16516155;16525631;16564525;16601839;16602701;16632475;16685436;16756681;16858643;16879932;1689240;16893520;16905120;16912170;16949925;17001307;17028265;17079488;17101149;17145753;17237151;17264329;17297470;17319000;17327908;17330942;17344041;17427199;17487556;17507651;17510314;17517866;17523079;17548471;17548516;17549401;17664334;17706320;17880283;17952591;17963689;18021410;18029284;18048089;18056417;18084301;18095109;18097558;18247343;18257282;18315930;18328568;18362146;18376415;1846368;18487955;18508598;18508599;18511987;18599586;18644795;18673553;18718938;18725541;18762175;18788551;18808175;18813792;18813852;18819934;18830568;18940913;18941116;18949356;18953252;18954937;18957516;19008962;19017363;19020743;19037107;19050704;19088796;19115132;19117638;19123477;19157142;19176991;19177204;19298527;19383607;19403319;19404710;19411312;19433314;19435784;19436306;19443020;19443353;19472211;19475533;19480010;19497996;19546228;19609941;19616049;19635932;19638192;19642359;19691446;19693769;19717562;19740518;19756998;19782465;19796867;19878584;19908229;19913121;20012874;20051950;20063318;20140262;20145038;20198323;20237496;20372789;20403162;20447686;20452482;20518747;20558828;20580686;20624254;20628086;20628624;20635136;20648659;20661471;20673868;20696135;20805979;20840675;20858596;20886176;20937265;20967855;20972812;21060833;21081472;21088115;21106094;21106716;21148633;21181094;21191179;21224999;21304107;21354571;21391216;21419107;21426933;21456072;21470667;21470685;21478092;21544310;2156852;21602447;21630091;21638078;21702998;21744990;21761413;21799009;21803847;21804539;21833477;21840777;21848504;21896743;21934527;21945852;22004682;22025616;22075245;22098627;22113150;22139533;22177802;22199285;22287577;22298164;22363796;22366462;22459389;22467324;22470492;22487523;22633212;22702340;22732587;22782499;22896701;22906080;22909410;22939629;22984561;23030781;23033975;23049759;23076139;23117033;23136192;23138488;23150653;23172421;23180655;23222509;23222817;23238745;23327926;23400595;23408042;23447064;23486467;23503679;23512428;23516493;23525268;23541763;23565268;23667902;23709605;23736353;23742830;23747086;23806081;23835994;23842190;23843896;23874017;23923008;23939376;24192237;24217605;24249636;24253546;24325546;24466048;24644284;24688027;2544876;3023326;3031025;7566098;7605992;8049431;8392005;8394346;8830783;9030717;9353320;9417082;9566979;9974409 5329 M0QX27;M0QYR6;M0QYS6;M0R0H5;M0R0L1;M0R0Y4;M0R1I2;M0R2E9;M0R383;Q03405 A18757;AA337688;AA643630;ABBA01040865;ABBA01040866;AC005525;AC006953;AF257789;AI801128;AI912302;AK290774;AMYH02036170;AY029180;AY194849;AY620435;AY620436;AY620437;BC002788;BY996586;CA495321;CD370232;CF126152;CH471126;CR456952;CS615284;M83246;NG_032898;NM_001005376;NM_001005377;NM_001301037;NM_002659;S78532;U08839;U09346;U09347;U09937;X51675;X74039;XM_005258988;XM_005258989;XM_005258990;XM_006723241 AAA17978;AAA17979;AAA59862;AAB60333;AAB60690;AAC32739;AAD14289;AAD17387;AAD17388;AAD17389;AAF71751;AAH02788;AAK31795;AAN86351;AAT52166;AAT52167;AAT52168;ABM83943;ABM87261;BAF83463;CAA01421;CAA35981;CAA52191;CAG33233;CAO02271;EAW57215;EAW57216;EAW57217;EAW57218;EAW57219;EAW57220;NP_001005376;NP_001005377;NP_001287966;NP_002650;Q03405;XP_005259045;XP_005259046;XP_005259047;XP_006723304 Hs.466871 1338187;1658758;1759595;2117672;2136148;2159990;2217762;5117769 D19S649E;D19S832;D19S900;GDB:604568;PLAUR_3333;RH11533;SHGC-12380;SHGC-150938 CD87;U-PAR;UPAR;URKR monocyte activation antigen Mo3;u-plasminogen activator receptor form 2;urokinase plasminogen activator surface receptor;urokinase-type plasminogen activator (uPA) receptor APPROVED protein-coding ENSG00000011422 HGNC:9053 01421 173391 REVIEWED 731269 PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific) This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 11 11 11 q13 61345878 61363808 + 64018995 64036924 + 64251523 64269452 + 737745;1300048;1580863;737799;2314509;2314514;5131495;5131502;6480464;6484113;6907045;8554872 10669417;11395409;15362504;17524618;9521338;9883896 10501179;10748023;10748198;10843712;11178984;11278298;11325525;11941371;12477932;12482669;12821674;1333955;14702039;15302935;15611108;15623527;15782111;15998840;16763092;17081983;17492941;18316326;18322273;18411281;18468998;19295129;1979339;19913121;20056178;20336759;20628086;20966218;21139048;21266572;21304157;21411730;21705626;21890473;21906983;21963094;22528496;22728827;22863883;22939629;23000965;23006664;23377541;24596086;24642259;2841328;7589147;7607669;7612006;7789993;7849701;9278385;9651375;9714794;9730685 5331 Q01970 ABBA01003289;ABBA01003290;ABBA01003291;ABBA01003292;ABBA01003293;ABBA01003294;ABBA01003295;AMYH02024932;AP001453;BC032659;BC041625;BC142681;BC146645;CH471076;HB877074;HB895708;HC934483;HC953117;NM_000932;NM_001184883;U26425;XM_005274052;Z16411;Z26649;Z37544 AAA77683;AAH32659;AAI42682;BAG10887;CAA78903;CAA85776;CBF62886;CBF74559;CBU87762;CBU96709;EAW74230;EAW74231;NP_000923;NP_001171812;Q01970;XP_005274109 Hs.523761 1649068;1659923;1677174;1683890;1706624;1710092;1777577;1791161;1798308;2125627;5492147 FKBP2;G33075;PLCB3sts2;RH27387;RH27714;SHGC-12383;SHGC-82715;SHGC-83713;VEGFB_2536;WI-14122;fkbp2sts3 FLJ37084 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-3;OTTHUMP00000236934;OTTHUMP00000236935;OTTHUMP00000236936;PLC beta 3;PLC-beta-3;phosphoinositide phospholipase C-beta-3 APPROVED protein-coding ENSG00000149782 HGNC:9056 02577 600230 REVIEWED 732409 PLCB2 phospholipase C, beta 2 ENCODES a protein that exhibits calcium ion binding (inferred); phosphatidylinositol phospholipase C activity (inferred); phospholipase C activity (inferred); INVOLVED IN activation of phospholipase C activity (inferred); inositol phosphate metabolic process (inferred); intracellular signal transduction (inferred); PARTICIPATES IN eicosanoid signaling pathway; endothelin signaling pathway; sphingosine 1-phosphate signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); cytosol (inferred); INTERACTS WITH cytarabine; dapsone; fonofos 15 15 15 q15 17346090 17366157 - 40576461 40600174 - 40284260 40307973 - 1300048;1580863;737745;1302588;5131495;5131502;6480464;6484113;6907045;8554872 10669417;11395409;12581520;17524618 10501179;10748023;10843712;10980202;11118617;11753430;11941371;12033943;12050180;12054652;12388553;12477932;12482669;12657629;12761218;1322796;14702039;14968112;15274049;15509571;15611108;15623527;15641770;15939402;16344560;1644792;16525635;17429106;17478077;17497434;18632858;18832656;19089657;19525236;1979339;19913121;20007712;20056178;20336759;20530480;20628086;20660057;20677014;20842205;21890473;21926974;21940795;22728827;22905097;23006664;23625927;23690479;24330829;2841328;7589147;7649993;9278385;9723859;9730685;9925923 5330 H0YKR9;H0YNI4;Q00722;Q59F77;Q9BVT6 AB209583;ABBA01038454;ABBA01038455;AC020658;AK130831;AK291657;AMYH02030236;BC000939;BC009009;BC136467;BT006905;BU147302;CH471125;DA981116;HB877066;HB895700;HC934475;HC953109;LK938290;M95678;NM_001284297;NM_001284298;NM_001284299;NM_004573;XM_005254448;XM_005254449;XM_005254450;XM_006720571;XM_006720572;XR_243102 AAA36453;AAH00939;AAH09009;AAI36468;AAP35551;BAC85441;BAD92820;BAF84346;CBF62882;CBF74549;CBU87758;CBU96705;EAW92402;EAW92403;NP_001271226;NP_001271227;NP_001271228;NP_004564;Q00722;XP_005254505;XP_005254506;XP_005254507;XP_006720634;XP_006720635 Hs.355888 1338535;1672689;1784762;1796522;2116872;2180335;2191143 D15S1327;D15S994;G15920;MARC_15317-15318:1017258886:1;PLCB2_382;SHGC-154601;SHGC-30151 FLJ38135;PLC-beta-2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-2;phosphoinositide phospholipase C-beta-2;phospholipase C-beta-2 protein-coding ENSG00000137841 HGNC:9055 04985 604114 VALIDATED 1322076 PLCD3 phospholipase C, delta 3 This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 39898162 39919051 - 43189008 43209891 - 45111640 45132524 - 1580863;6480464;6907045;8554872 10336610;10501179;10702670;10843712;11500033;11706040;11853319;12477932;12482669;15231748;16344560;19329342;19344632;19430483;1979339;19913121;20056178;20628086;20852445;21035487;21139048;21472267;21906983;21951552;22723964;23948486;7589147;9056492;9278385;9360711;9730685;9799116 113026 F5GXC1;H0YGF8;K7EQF2;Q8N3E9 AB075844;ABBA01028328;AC002117;AC142472;AK074240;AL834392;AMYH02033509;BC010668;BC072384;BU621728;CH471178;DA128483;HB877192;HB895826;HC934601;HC953235;HY169731;KF459697;NM_133373 AAH10668;AAH72384;BAB85029;BAB85550;CAD39054;CBF62945;CBF74688;CBU87821;CBU96768;EAW51544;EAW51545;EAW51546;EAW51547;NP_588614;Q8N3E9 Hs.380094 2110657;5014051;5015619;5015861;5016478;5022200;5022450;5022578;5024039;5037552;5109281;7185938 D10S16;D10S275;D11S3114;D16S325;D1S1423;D1S1425;D8S2278;D8S2279;GDB:434012;L18426;PLCD3_8123 MGC71172 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-3;PLC delta3;PLC-delta-3;phosphoinositide phospholipase C-delta-3;phospholipase C-delta-3 APPROVED protein-coding HGNC:9061 07146 608795 REVIEWED 735727 PLAU plasminogen activator, urokinase This gene encodes a serine protease involved in degradation of the extracellular matrix and possibly tumor cell migration and proliferation. A specific polymorphism in this gene may be associated with late-onset Alzheimer's disease and also with decreased affinity for fibrin-binding. This protein converts plasminogen to plasmin by specific cleavage of an Arg-Val bond in plasminogen. Plasmin in turn cleaves this protein at a Lys-Ile bond to form a two-chain derivative in which a single disulfide bond connects the amino-terminal A-chain to the catalytically active, carboxy-terminal B-chain. This two-chain derivative is also called HMW-uPA (high molecular weight uPA). HMW-uPA can be further processed into LMW-uPA (low molecular weight uPA) by cleavage of chain A into a short chain A (A1) and an amino-terminal fragment. LMW-uPA is proteolytically active but does not bind to the uPA receptor. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 10 10 10 q22.2 68954178 68960575 + 75670862 75677259 + 73911104 73917501 + 1580895;1580896;1580863;4891955;4892055;4891938;4892037;4143526;4892109;6480464;6484139;2317516;6483831;6484215;6484131;6484115;6483790;6484140;6484145;6483805;6483806;6484141;6483809;6484146;6484124;6484123;6483794;6483810;6483795;6483802;6483801;6483822;6483808;6483816;6483821;6483830;6484133;6484127;6484129;6483803;6484126;6483796;6483797;6484113;6483793;6484134;6483798;6483827;6483826;5147760;6483807;6483828;6907045;7241140;7241268;7240710;7241081;7241082;6903200;7241134;7241138;7241146;7241142;7241144;7241204;7241205;7241206;7241213;7241218;7241259;7241260;7241261;7241264;7241279;1580123;7241280;7241552;7241553;7241556;7241558;7241584;7241585;7241591;2325698;7241795;7241798;7241800;7241801;7241803;7241805;7241809;2316117;7241133;7241544;7241262;4144867;7241201;7241203;8547730;8699517;8554872 10024688;12376355;12866027;14531820;15096455;15191676;15231498;15262029;15322501;15356878;15506291;15631996;15878520;15882265;16387096;16825821;16958060;17040480;17651644;17653104;17706748;17869326;17994220;18022622;18052026;18076107;18240004;18336603;18467699;18519237;18571586;18586014;18691743;18716863;18718505;18998460;19010488;19099788;19153874;19214512;19246678;19416247;19459212;19500378;19527776;19587273;19615318;19628656;19663807;19690163;19889475;19926968;19952306;20016209;20026272;20035854;20142364;20304453;20466854;20518747;20544684;2054790;20584616;20606645;20624254;20646237;20798533;20937265;20952728;20973954;21151668;21219633;21375013;21473829;21573723;21711960;21779364;21786025;21790972;21860091;22119245;22160250;22293605;22296682;22300381;22683425;22702340;23018346;23324284;23327706;3884145;7516275;7604873 10221568;10340997;10361124;10362070;10402467;10505055;10636902;10749881;10788498;10805774;10962009;10996659;11023511;11266465;11384978;11394884;11501527;11751384;11805108;11827968;11858184;11876553;11880102;11906036;11928806;11928807;11928809;11928812;11928816;11928818;11930938;11956327;12008951;12023847;12041678;12084931;12115506;12149463;12152683;12161038;12167592;12174885;12183060;12218297;12236587;12353084;12377770;12393547;12430175;12477728;12477932;12529357;12556966;12574820;12576295;12642587;12684636;12704669;12708473;12719778;12719789;12736046;12743986;12754271;12764090;12771144;12773490;12832381;12881310;12883725;12898287;12926141;12930304;12941043;12960238;1327118;1334458;134998;14507113;14517288;14534291;14597629;14644829;14681909;14696115;14704150;14744782;14747469;14769799;14982725;14983219;14983227;1499567;15067375;15083890;15149885;15210852;15217951;15243126;15326109;15371454;15375521;15489334;15494526;1551416;15515049;15558716;15615772;15616835;15629242;15646834;15653692;15728176;15750768;15831288;15849510;15854129;15868845;15880258;15881651;15885322;15886816;15927351;15937335;15944400;15988036;15996887;16008557;16077991;16102112;16113755;16127174;16236890;16267271;16385451;16456079;16459332;16461772;16504015;16509805;16525631;16547007;16601839;16604464;16632475;16685436;16685447;16728704;16761300;16794252;16806969;16807059;16825285;16836076;16855359;16858643;16879932;16908524;16949925;16967469;17013094;17029796;17080225;17083312;17159381;17174555;17187779;17192053;17203175;17203182;17222367;17233842;17240317;17258797;17264329;17299802;17299841;17327908;17331567;17344041;17355798;17363771;17458906;17523079;17532189;17545513;17548050;17549401;17559626;17581316;17601350;17611702;17634019;17638874;17649957;17654528;17657740;17661167;17681345;17709546;17877801;17880283;17921261;17923479;17934860;17949787;17974965;17986506;18048089;18053985;18076013;18177545;18193533;18196271;18202522;18208536;18237545;18239069;18257282;18321763;18331597;18337556;18355442;18362146;18376307;18376415;18390474;18436804;18439850;18466392;18478929;18491991;18511987;18570153;18599586;18600101;18714186;18788551;18824154;18835034;18940913;18949356;18954937;18977241;18988861;18997817;1900515;19020551;19029443;19088796;19097143;19101688;19102416;19115132;19117638;19123477;19132247;19133257;19147749;19157142;19176991;19177205;19232508;19272641;19298527;19394555;19403319;19436306;19475533;19490101;19497963;19513384;19526059;19536843;19546228;19616049;19693769;19701247;19703758;19723042;19729488;19730683;19735728;19740518;19776673;19826838;19845941;19903858;19913121;20007542;20015050;20036101;20039121;20043086;20051950;20052287;20097831;20198323;20204407;2023947;20301340;20337595;20369484;20403162;20445443;20452482;20565774;20628086;20628624;20645833;20651370;20673868;20693403;20708412;20740581;20805979;20931209;21071923;21076612;21104439;21106716;21163940;21174062;21181094;21199867;21219832;21242962;21316840;21426933;21567400;21574189;2161846;21627387;2166055;21669207;21670079;21709151;21744990;21761413;21798735;21819230;21833477;21858104;21913037;21965736;21988832;21989445;22004682;22035541;22102275;22166006;22177802;22199285;22280367;22291969;22294827;22354580;22467324;22470492;22575880;22684547;22707264;22797075;22797919;22906080;22927998;22986534;22994764;23059760;23064953;23128233;23169000;23322578;23333304;23350235;23392805;23441133;23532423;23536772;23615713;23621237;23628797;23661254;23661758;23812296;23813610;23848154;23864708;23898067;23900236;23978400;23985164;24023701;24111848;2415429;24217605;24304137;24340014;24434139;24479343;24481457;24616477;24654937;24807734;2536903;2544876;2551064;2752144;2829380;2987867;3023326;3031025;3090045;3501295;3840278;3888571;3920216;3933505;4226004;6589620;6749491;6754569;6754572;7548163;7559792;7592875;7721771;7867716;8033079;8107091;8227186;8270642;8344937;8388810;8428004;8591045;8652631;8676469;8837777;8895530;9065988;9143604;9151681;9184208;9194591;9365930;9516128;9566979;9680361;9766559;9824347 5328 E7ET40;P00749;Q59GZ8;S4R3G7 A18397;A21571;A35395;AB208961;ABBA01020302;AF377330;AK297940;AK298560;AK312960;AL596247;AMYH02023341;AW316981;AY029537;AY820134;BC013575;BI759308;BI833559;BQ920793;BT007391;BX360462;CB959931;CH471083;CS123918;D00244;D11143;DC349055;HI573980;K02286;K03027;K03226;M15476;NG_011904;NM_001145031;NM_002658;X02419;X02760;XM_006717893;Z36790 AAA61252;AAA61253;AAA61257;AAC97138;AAH13575;AAK38734;AAK53822;AAP36055;AAV70488;ABM84743;BAA00175;BAA01919;BAD92198;BAG35799;BAG60256;BAG60754;CAA01390;CAA01559;CAA02215;CAA26268;CAA26535;CAJ18774;CBX47479;EAW54544;EAW54545;NP_001138503;NP_002649;P00749;XP_006717956 Hs.77274 1677941;1741587;1793546;2108871;5108156;5491394 GDB:181547;PLAU;PLAU_226;PMC229370P1;RH92165;SHGC-31374 ATF;BDPLT5;QPD;UPA;URK;u-PA OTTHUMP00000019849;OTTHUMP00000019850;OTTHUMP00000019851;U-plasminogen activator;plasminogen activator, urinary;urokinase-type plasminogen activator APPROVED protein-coding ENSG00000122861 HGNC:9052 01883 104300;191840;601709 REVIEWED 733727 PLCB4 phospholipase C, beta 4 The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010] 20 20 20 p12 9119817 9531474 + 9049357 9461463 + 9068710 9480816 + 1300048;1580863;1302587;5131495;5131502;6480464;6907045;8699517;8554872;7240710 11395409;12640460;17524618 10501179;10843712;11118617;11329013;11780052;12477932;12482669;1322796;14702039;16344560;16461635;16767099;17081983;19086053;19470168;1979339;19856080;19913121;20056178;20172861;20180986;20336759;20379614;20398908;20554694;20628086;21139048;21906983;22560091;23006664;23913798;24296361;2841328;7589147;8530101;8672127;9278385;9730685 5332 B1AJW1;B1AJW2;B1AJW3;B1AJW4;Q15147 ABBA01053926;ABBA01053927;ABBA01053928;AK025027;AK054754;AK057634;AK122699;AK307482;AK307837;AL023805;AL031652;AL117633;AL121898;AL121909;AL844332;AMYH02036687;AMYH02036688;BC117458;BC143868;BG220268;BI439140;BX648680;CH471133;DB270238;DN913865;DR761451;KF456812;L41349;NG_032790;NM_000933;NM_001172646;NM_182797;XM_005260724;XM_005260728;XM_006723568;XM_006723569;XM_006723570;XM_006723571;XM_006723572 AAB02027;AAI17459;AAI43869;EAX10364;EAX10365;EAX10366;EAX10367;EAX10368;EAX10369;EAX10370;NP_000924;NP_001166117;NP_877949;Q15147;XP_005260781;XP_005260785;XP_006723631;XP_006723632;XP_006723633;XP_006723634;XP_006723635 Hs.472101 1334537;1336020;1645585;1673935;1691170;1691648;1691650;1693340;1707222;1709440;1715711;1734188;1747813;1796524;2114028;2122086;2123742;2127413;2134713;2140807;2141004;2175831;2181236;5094234;5126801;7187366 A007F40;AL032538;AL032539;AL034495;D20S175;D20S509;D20S553E;D20S917;G54656;G66788;PLCB4;PLCB4_1395r1;RH119302;RH64140;RH69771;RH70741;RH78037;RH91839;SGC31545;SHGC-30447;SHGC-79198;SHGC-81761;WI-15043;Z94280;Z94361 ARCND2;FLJ16169;PI-PLC 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate;1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 4;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-4;OTTHUMP00000030245;OTTHUMP00000030250;OTTHUMP00000030255;PLC-beta-4;dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4));inositoltrisphosphohydrolase;monophosphatidylinositol phosphodiesterase;phosphoinositidase C;phosphoinositide phospholipase C;phosphoinositide phospholipase C-beta-4;phospholipase C-beta-4;triphosphoinositide phosphodiesterase APPROVED protein-coding ENSG00000101333 HGNC:9059 02885 600810;614669 REVIEWED 733331 PLCD1 phospholipase C, delta 1 This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 3 3 3 p22-p21.3 37983370 38005535 - 38048987 38071154 - 38007496 38029663 - 1302551;1580863;1299008;2300431;2300421;2300422;1304368;2300429;2300423;6480464;6907045;8699517;7240710;8554872 11181012;12623065;12805213;12850505;1313006;1358065;15276620;17198910 10501179;10518533;10843712;11336645;11706040;11960991;12477932;12482669;12761218;12805215;14550290;14702039;15037625;15509571;15702972;15809301;15817490;15861130;16115628;16240320;16344560;17041247;18006814;18434237;19008404;19056867;19086053;19344632;19448674;19578796;1979339;19913121;20018811;20056178;20336759;20398908;20530480;20628086;20657189;21139048;21665001;21832049;21906983;21909432;21951552;22078044;22265909;22458588;22576628;22990118;23000965;23149345;23388389;23948486;7589147;7890667;8381210;8672127;9056492;9278385;9345909;9512491;9588182;9730685 5333 A8K8F9;P51178 AB209862;ABBA01024840;AC144536;AK090774;AK098690;AK127813;AK292324;AMYH02006564;BC050382;BX647927;CH471055;CX164303;DA017409;DA083758;NG_031922;NM_001130964;NM_006225;NR_024071;U09117 AAA73567;AAH50382;BAD93099;BAF85013;BAG52226;BAG54577;CAI46087;EAW64507;NP_001124436;NP_006216;P51178 Hs.80776 1337551;2129398;2159839;2217764;7185231;7186258 D3S1298;PLCD1__2773;SHGC-76834;SHGC-76845 NDNC3;PLC-III 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-1;OTTHUMP00000161383;OTTHUMP00000226936;PLC-delta-1;phosphoinositide phospholipase C-delta-1;phospholipase C-III;phospholipase C-delta-1 APPROVED protein-coding ENSG00000187091 HGNC:9060 09073 151600;602142 REVIEWED 1346447 PLCD4 phospholipase C, delta 4 This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011] 2 2 2 q35 213240381 213269662 + 219472488 219501909 + 218607765 218637186 + 6480464;6907045;8554872 10501179;10702683;10843712;11706040;12477932;12482669;14702039;15037625;15140260;15342556;16189514;17394098;19086053;1979339;19913121;20056178;20628086;21832049;21951552;7589147;8125298;8381210;9278385;9730685 84812 C9JAE4;C9JEA7;F2Z3H8;H7C237;H7C281;Q9BRC7 AB209599;ABBA01023862;ABBA01023863;ABBA01023864;AC012510;AI914254;AK023083;AK057186;AK223203;AK297808;AK299458;AMYH02005800;AMYH02005801;AMYH02005802;AMYH02005803;AY512961;BC006355;BP361394;CH471063;HB877206;HB895840;HC934615;HC953249;NM_032726;XM_005246913;XM_005246914;XM_005246915;XM_006712803;XM_006712804;XR_241325 AAH06355;AAS82574;ABM86830;ABW03854;BAD92836;BAD96923;BAG60146;BAH13040;CBF62952;CBF74703;CBU87828;CBU96775;EAW70627;EAW70628;EAW70629;NP_116115;Q9BRC7;XP_005246970;XP_005246971;XP_005246972;XP_006712866;XP_006712867 Hs.632528 1796526;2180199;2180201 PLCD4_1057;RH70482;SHGC-33785 MGC12837;hPLCD4 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-4;OTTHUMP00000206571;OTTHUMP00000206572;OTTHUMP00000206573;PLC delta4;PLC-delta-4;phosphoinositide phospholipase C-delta-4;phospholipase C-delta-4 APPROVED protein-coding ENSG00000115556 HGNC:9062 07296 605939 REVIEWED 8699176 PLCE1-AS2 PLCE1 antisense RNA 2 10 10 q23.33 95867262 95868537 - 94106021 94108784 - 12477932 101927049 ABBA01021862;AK098548;AL139118;AMYH02023569;BC035380;HG503159;HG503160;HY019250;LK938908;LK938909;NR_120615;NR_120616;XR_246162;XR_247566;XR_252792;XR_424159;XR_428784;XR_432619 Hs.144492 ncrna ENSG00000232913 HGNC:51206 VALIDATED 8662218 PLCG1-AS1 PLCG1 antisense RNA 1 20 20 39726969 39766640 - 41097994 41138000 - 12477932 101927117 ABBA01052573;ABBA01052574;AL022394;AL035652;AMYH02037082;BC035080;BX103520;HG511365;KF456903;NR_109889 Hs.668593;Hs.672351 TOP1-AS1 ncrna ENSG00000226648 HGNC:40450 VALIDATED 6481380 PLCH1-AS1 PLCH1 antisense RNA 1 3 3 q25.31 155166973 155175542 + 155449184 155457753 + 12477932 100874035 ABBA01058861;AC012022;AMYH02007953;BC039489;XR_241603;XR_249510;XR_251484 Hs.639240 APPROVED ncrna ENSG00000239508 HGNC:41231 MODEL 7253391 PLCE1-AS1 PLCE1 antisense RNA 1 ASSOCIATED WITH NEPHROTIC SYNDROME, TYPE 3 (inferred) 10 10 10 q23.33 89779170 89786950 - 96039047 96046827 - 94279290 94287070 - 8554872 100128054 ABBA01021858;AL139124;AMYH02023570;CH471066;HG503165;HG503166;LK938910;NR_033969 EAW50044 Hs.677562 RP11-76P2.3 ncrna ENSG00000268894 HGNC:45193 VALIDATED 1349228 PLCH1 phospholipase C, eta 1 PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009] 3 3 3 q25.31 153618259 153842073 - 155197670 155462878 - 155479881 155745089 - 737633;6480464;8554872 12477932 10470851;14702039;15345747;15583837;15702972;16344560;18029348;1979339;19913121;20336759;20628086;21139048;22658813;23382691;25015289 23007 Q4KWH8 AB028992;ABBA01058859;ABBA01058860;AC012022;AC068296;AC104472;AC132006;AK022610;AK096620;AMYH02007954;AMYH02007955;AMYH02007956;AMYH02007957;AMYH02007958;AMYH02007959;AY691170;AY691171;BC043248;BC113950;CH471052;CR749869;DA206803;NM_001130960;NM_001130961;NM_014996;XM_005247238;XM_005247239;XM_006713541 AAH43248;AAI13951;AAW22607;AAW22608;BAA83021;BAB14129;CAH18710;EAW78747;EAW78748;EAW78749;NP_001124432;NP_001124433;NP_055811;Q4KWH8;XP_005247295;XP_005247296;XP_006713604 Hs.567423 1335630;1700438;1735288;1756563;1762699;2109669;2110997;2156280;2174482;2176776;2178516 D3S1492E;D3S1526;D3S2933E;D3S3509;PLCL3_9298;RH103840;SHGC-143594;SHGC-146493;SHGC-53318;SHGC-77479;STS-H67845 DKFZp434C1372;MGC117152;PLC eta 1;PLC-L3;PLC-eta-1;PLCL3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase eta-1;OTTHUMP00000212977;OTTHUMP00000212978;OTTHUMP00000212979;OTTHUMP00000212980;phosphoinositide phospholipase C-eta-1;phospholipase C-eta-1;phospholipase C-eta1a;phospholipase C-eta1b;phospholipase C-like 3;phospholipase C-like protein 3 APPROVED protein-coding ENSG00000114805 HGNC:29185 11438 612835 VALIDATED 6481383 PLCH1-AS2 PLCH1 antisense RNA 2 100874036 AC012022 APPROVED ncrna HGNC:41232 1606000 PLCE1 phospholipase C, epsilon 1 This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009] 10 10 10 q23 89493881 89828255 + 95753746 96088149 + 93993989 94328392 + 6480464;6907045;7240710;7257520;7257519;7257521;8554872;8699517 17086182;18065803;20591883 10501179;10819331;10843712;11022047;11022048;11395506;11715024;11877431;12444546;12477932;12482669;12721365;12878163;14702039;15157671;15164054;15558028;16169070;16293787;16385451;16483931;16537651;16565089;17373700;17449496;17942568;17998205;18029348;18270750;18975016;19037252;19260473;1979339;19875381;20056178;20201926;20336759;20379614;20507940;20620593;20677014;20729852;20729853;21365190;21368711;21642993;21658281;21667163;21685187;21689432;21705050;21837401;21909110;21909115;21909432;21951843;22001756;22203178;22412849;22744421;22805490;22865593;23079034;23222411;23390063;23536857;23659763;23688607;23797815;23826241;23874915;23958207;23975622;23981775;24116107;24127316;24146276;24254309;24307345;24316392;24591640;24737582;24766303;24796667;24884822;7589147;9278385;9730685 51196 B7ZM61;Q9P212 AB040949;ABBA01021857;ABBA01021858;ABBA01021859;ABBA01021860;ABBA01021861;ABBA01021862;AF117948;AF170071;AF190642;AK022543;AK074239;AK289852;AK297779;AL139118;AL139124;AL365510;AL389885;AMYH02023566;AMYH02023567;AMYH02023568;AMYH02023569;AMYH02023570;AY995135;BC140705;BC144286;BC151854;BX491865;CH471066;NG_015799;NM_001165979;NM_001288989;NM_016341;XM_006717885;XM_006717886;XM_006717887;XM_006717888;XM_006717889;XM_006717890 AAF22005;AAG17145;AAG28341;AAI40706;AAI44287;AAI51855;AAY45890;BAA96040;BAB14090;BAF82541;BAG60124;EAW50042;EAW50043;NP_001159451;NP_001275918;NP_057425;Q9P212;XP_006717948;XP_006717949;XP_006717950;XP_006717951;XP_006717952;XP_006717953 Hs.655033 1337185;1649472;1650010;1664385;1666580;1673071;1706928;1752601;1757695;1782142;2116507;2131445;2153879;2165894;2182832;2185830;2185832;5015619;5015961;5037552 A006C18;A006P39;CHLC.GGAA2E03;D10S1206;D10S1690;D10S1866;D10S2486;D11S3114;D15S1477;D8S2279;G20699;G35317;RH15689;RH68622;SGC32356;SHGC-106417;SHGC-146273;SHGC-155395;SHGC-80953;STS-N32898 FLJ23659;KIAA1516;MGC167842;NPHS3;PLCE;PPLC 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1;OTTHUMP00000020125;OTTHUMP00000020126;PLC-epsilon-1;pancreas-enriched phospholipase C;phosphoinositide phospholipase C-epsilon-1;phosphoinositide-specific phospholipase C epsilon-1 APPROVED protein-coding ENSG00000138193 HGNC:17175 07087 608414;610725 REVIEWED 1346590 PLCH2 phospholipase C, eta 2 PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009] 1 1 1 p36.32 149336 178536 - 2407754 2436964 + 2428887 2505532 + 737633;1580863;6480464 12477932 15583837;15899900;16107206;18361507;1979339;20649401;21297633;21474938;21906983;22197933;23128233;9455484 9651 B9DI81;B9DI82;O75038;V9GY64 AB007919;ABBA01016096;ABBA01016097;ABBA01016098;AK074149;AK122589;AK122591;AL139246;AL513477;AL513531;AMYH02000124;BC019679;BC037356;BC043358;BC044630;BC050037;BC128207;BC128208;BC144620;CH471183;DQ176850;NM_014638;XM_006711054;XM_006711055;XM_006724949;XM_006724950;XM_006724951 AAH19679;AAH43358;AAH50037;AAI28208;AAI28209;ABA12209;BAA32295;BAB84975;BAC56930;BAC56932;EAW56101;EAW56102;EAW56103;EAW56104;NP_055453;O75038;XP_006711117;XP_006711118;XP_006725012;XP_006725013;XP_006725014 Hs.170156 1729456 D1S80 PLC-L4;PLC-eta2;PLCL4;PLCeta2;RP3-395M20.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase eta-2;OTTHUMP00000000790;OTTHUMP00000000791;phosphoinositide phospholipase C-eta-2;phosphoinositide phospholipase C-like 4;phospholipase C-eta-2;phospholipase C-eta2;phospholipase C-like 4;phospholipase C-like protein 4 APPROVED protein-coding ENSG00000149527 HGNC:29037 612836 PROVISIONAL 733121 PLCL1 phospholipase C-like 1 ENCODES a protein that exhibits calcium ion binding (inferred); GABA receptor binding (inferred); inositol 1,4,5 trisphosphate binding (inferred); INVOLVED IN gamma-aminobutyric acid signaling pathway (inferred); intracellular signal transduction (inferred); lipid catabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; arsenous acid; benzo[a]pyrene 2 2 2 q33 192425193 192770374 + 198669426 199014608 + 197804702 198149884 + 1580863;6480464;8554872 12039952;12477932;15342556;16344560;16952428;18776929;18997786;19913121;20030815;20308991;20628086;21102462;21102463;21507922;21963094;22128345;22219177;23128233;23722424;23743675;23817569;23911386;7633416;8818658 5334 F8WAR2;H3BUD4;Q15111 ABBA01062490;ABBA01062491;AC011997;AC013478;AC020719;AC092599;AC109589;AK127514;AK302673;AMYH02005524;AMYH02005525;AMYH02005526;AMYH02005527;BC101531;BC111985;BP340710;BX537442;CH471063;D42108;DA193701;DA414853;NM_006226;T87219;XM_005246643;XM_005246644 AAI01532;AAI11986;AAY14733;BAA07688;BAG63906;CAD97684;EAW70174;NP_006217;Q15111;XP_005246700;XP_005246701 Hs.153322 1298305;1335319;1340605;1647848;1707714;1739021;1777818;1779192;5096163;7184738 D2S115;D2S1413;D2S1878;D2S202;D2S2318;G11798;SHGC-152743;SHGC-82071;WI-22626 MGC126580;MGC138190;PLC-L1;PLCE;PLCL;PLDL1;PPP1R127;PRIP 130kda-ins(1,4,5)p3 binding protein;OTTHUMP00000208039;inactive phospholipase C-like protein 1;phospholipase C related, but catalytically inactive protein;phospholipase C, epsilon;phospholipase C-deleted in lung carcinoma;phospholipase C-related but catalytically inactive protein protein-coding ENSG00000115896 HGNC:9063 07041 600597 VALIDATED 6481349 PLCL2-AS1 PLCL2 antisense RNA 1 100874003 AC091491 APPROVED ncrna HGNC:40449 735936 PLCG1 phospholipase C, gamma 1 The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q12-q13.1 36476730 36514924 + 39766159 39804359 + 41137519 41175719 + 1300048;1580863;1302579;2299875;2298729;1642762;2299174;2299877;2299874;6480464;6484113;6907045;8554872 11744703;14685170;1683701;17612968;17658244;18175071;9703922 10022833;10092678;10350061;10391903;10430888;10455176;10467411;10473113;10488157;10501179;10579907;10586033;10652211;10652257;10684856;10692392;10708759;10770799;10783152;10811803;10823839;10843712;10873601;10899172;10913276;10926122;10940929;10980614;11043766;11048639;11071635;11094073;11259588;11312102;11353454;11368773;11390470;11390650;11409699;11507676;11779129;11780052;11823862;11886851;11888936;11941371;11956228;11960376;12061819;12071848;12074588;12084069;12085993;12163161;12419535;12454018;12477932;12482669;12496421;12507498;12514734;12598525;12601080;12646582;12771140;12788694;12803489;12845332;12890670;12898421;12937273;12941616;12960351;13129935;1383690;14523024;14568990;14647465;14702343;14722116;14744865;14968112;14978237;14989173;1500851;1501243;15062102;15117958;15123640;15144186;15153499;15161916;15184383;15252117;15270728;15329338;15488758;15556869;15563458;15592455;15623534;15644415;15654973;15696170;15702972;15744307;15766521;15872086;15944397;15951569;15953601;15972651;15996687;16153436;16273093;16341594;1639386;16467851;16503409;16764945;1676673;16767099;1689310;16921170;16938345;17023658;17081983;17111345;17130290;17148460;1715690;17229814;17242406;17336371;17372230;17419608;17474147;17561374;17561467;17562871;17991733;18037957;18256683;18292392;18467332;18579528;18594017;18596081;18671761;19018007;19074886;19086053;19179337;19223396;19570985;19586919;19663908;19681907;19710135;19711039;19712589;1979339;19805522;19881535;19913121;19915061;19952372;20011604;20041213;20056178;20080774;20232348;20336759;20379146;20510673;20514023;20621058;20628086;20674545;20872577;20889506;21087080;21139048;21176845;21209106;21233200;21242968;21285289;21360263;2167438;21705626;2173144;2176151;21762810;21798286;21875593;21890473;21906983;21986528;22022282;22262199;22454520;22474331;22554284;22749651;22837484;22847294;22863883;22939629;22974441;23000965;23061666;23063561;23063587;23703528;23925006;23986795;24250222;24412752;24440983;24497536;24502564;24633157;24785188;24797263;24816145;2550068;3254788;7510703;7512571;7513258;7518429;7535778;7536744;7589147;7592796;7629168;7657612;7681365;7682059;7689724;7761838;7774645;7799925;7831290;7876130;7999363;8084603;8155326;8290562;8384556;8386518;8388538;8443409;8596638;8627166;8628282;8649391;8657103;8660853;8662733;8672127;8805332;8824280;8885868;8890167;8892607;8905292;8906806;8910519;8918464;8977179;8995379;9045636;9045685;9047383;9164868;9174053;9178760;9207933;9231720;9234717;9278385;9281317;9299537;9314836;9341187;9344703;9344857;9398617;9489702;9516477;9535722;9600074;9632142;9632636;9660748;9697839;9712732;9729044;9730685;9743338;9756944;9808187;9819383;9846481;9856458;9891995 5335 M0QX77;P19174;Q4LE43;Q9UFY1;V9GY63;V9GY71;V9GYH5 AB210028;ABBA01052574;AF147391;AK297370;AK309606;AL022394;AL110247;AMYH02037082;AMYH02037083;BC136466;BC144136;BX415739;BX434193;CH471077;DQ297143;M34667;NM_002660;NM_182811;U80983;XM_005260438;XR_244143 AAA36452;AAB70663;AAI36467;AAI44137;ABB84466;BAE06110;BAG59815;CAB53696;EAW75989;EAW75990;EAW75991;EAW75992;EAW75993;NP_002651;NP_877963;P19174;XP_005260495 Hs.268177 1648348;1658965;1796528;2118311;2127515;2131449;2191029 D20S529E;G15919;GDB:188616;MARC_13623-13624:1002811759:1;PLCG1_1396;STS-M34667;STS-R76690 NCKAP3;PLC-II;PLC1;PLC148;PLCgamma1 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate;1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma 1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma-1;OTTHUMP00000031787;OTTHUMP00000178982;PLC-148;PLC-gamma-1;inositoltrisphosphohydrolase;monophosphatidylinositol phosphodiesterase;phosphatidylinositol phospholipase C;phosphoinositidase C;phosphoinositide phospholipase C;phosphoinositide phospholipase C-gamma-1;phospholipase C, gamma 1 (formerly subtype 148);phospholipase C-148;phospholipase C-II;phospholipase C-gamma-1;triphosphoinositide phosphodiesterase 2316052 GLUCO208_H APPROVED protein-coding ENSG00000124181 HGNC:9065 01398 172420 REVIEWED 732989 PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014] 16 16 16 q24.1 66110768 66289752 + 81812899 81996290 + 81779294 81958294 + 1300048;1580863;1302581;6480464;6484113;6907045;8699517;8554872;7240710 10933392 10025672;10467411;10469124;10501179;10623845;10706702;10770799;10843712;10933389;10981967;11043765;11274146;11390470;11507089;11507676;11606584;11685467;12049640;12093870;12135708;12181444;12359094;12437926;12470302;12477932;12482669;12514734;12771181;12813055;14606067;14702039;14978237;15144186;15184383;15187135;15231748;15342556;15489334;15509800;15644415;15744341;15845450;15953601;15972651;16172125;16249387;16273093;16923831;17023658;17053833;17290227;17474147;18000612;18022864;18095154;18728011;18784435;19086053;19308021;19531496;1979339;19805522;19965664;20041213;20056178;20068106;20086178;20336759;20379614;21245382;21506110;21762810;21822214;21875593;21906983;22236196;22837484;22974441;23000145;23039362;23382691;23555801;23648065;24080446;24127488;24166973;24489640;24816145;24869598;2841328;2849563;7589147;7682059;7774933;7835906;8093016;8226808;8395016;8672127;8885868;8980110;9278385;9280292;9398617;9730685;9819383 5336 H3BMT7;H3BPZ3;H3BQV5;P16885 AB208914;ABBA01016953;ABBA01016954;AC092142;AC098966;AC099524;AK127374;AK304722;AK310042;AMYH02032518;AMYH02032519;AMYH02032520;AMYH02032521;AW504432;AY364256;BC007565;BC011772;BC014561;BC018646;BC018983;BC040927;BP351485;BX504887;CH471114;DB456860;HG508362;M37238;NG_032019;NM_002661;X14034;XR_243482;XR_248240;XR_253577 AAA60112;AAH07565;AAH11772;AAH14561;AAH18646;AAQ76815;ABM84450;ABM87513;BAD92151;BAG65485;CAA32194;EAW95524;EAW95525;EAW95526;NP_002652;P16885 Hs.372303;Hs.413111;Hs.586906;Hs.710001 1745745;1765501;1766173;1768272;1783396;2145894;2161428;2217766;5016468;5109302;5113097 D16S696;GDB:386186;GDB:633458;PLCG2_2749;RH17426;RH65041;RH68327;SHGC-148982;SHGC-149548;SHGC-154149;SHGC-60970 FCAS3;PLC-IV;PLC-gamma-2;RP11-510J16.3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma-2;APLAID;phosphoinositide phospholipase C-gamma-2;phospholipase C gamma 2;phospholipase C, gamma 2 (phosphatidylyinositol-specific);phospholipase C-IV;phospholipase C-gamma-2;phospholipase c, gamma 2 APPROVED protein-coding ENSG00000197943;ENSG00000261218 HGNC:9066 02570 600220;614468;614878 REVIEWED 1345610 PLCXD2 phosphatidylinositol-specific phospholipase C, X domain containing 2 ENCODES a protein that exhibits phosphoric diester hydrolase activity (inferred); signal transducer activity (inferred); INVOLVED IN lipid catabolic process (inferred); lipid metabolic process (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; calcitriol; copper atom 3 3 3 q13.2 109793213 109964345 + 111393523 111565294 + 111674676 111846447 + 1580863;6480464;8554872 12477932;14702039;20125193;20379614;20677014;21139048;21906983;23333304 257068 C9JB87;Q0VAA5 ABBA01061669;ABBA01061670;AC055748;AC117509;AK056141;AK091636;AK095647;AK095735;AL712245;AMYH02007431;AMYH02007432;AMYH02007433;AMYH02007434;AMYH02007435;BC121155;BC121156;CH471052;CQ859810;CQ859812;NM_001185106;NM_153268 AAI21156;AAI21157;BAB71103;CAH25955;CAH25956;EAW79695;NP_001172035;NP_695000;Q0VAA5 Hs.477114;Hs.603252 1658447;1703924;1704202;1713413;1740079;1764631;2134756;2153479;2164666;2164668;2165347;5093480 A005W42;D3S3500;D3S3823;D3S4152;G20557;G32743;RH119563;SHGC-148219;SHGC-77194;SHGC-77201;SHGC-79831;SHGC-83631 FLJ31579 OTTHUMP00000214648;OTTHUMP00000214649;PI-PLC X domain-containing protein 2 protein-coding ENSG00000240891 HGNC:26462 07114 VALIDATED 6481210 PLCXD2-AS1 PLCXD2 antisense RNA 1 q13.2 100874115 AC055748;AI138731;CR748194;NR_046733 Hs.626740;Hs.667248 APPROVED ncrna HGNC:41145 VALIDATED 1604168 PLCXD3 phosphatidylinositol-specific phospholipase C, X domain containing 3 ENCODES a protein that exhibits phosphoric diester hydrolase activity (inferred); signal transducer activity (inferred); INVOLVED IN lipid catabolic process (inferred); signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; arsenite(3-) 5 5 5 p13.1 41195619 41399134 - 41307048 41510730 - 41306946 41510628 - 6480464;8554872 20379614 345557 B3KXD1;Q63HM9 ABBA01024232;ABBA01024233;ABBA01024234;AC008830;AC020940;AC094082;AK124638;AK127142;AMYH02011219;AMYH02011220;AMYH02011221;BX501895;BX648329;CS300763;KF457891;NM_001005473;XM_005248297 AAI48399;AAI56735;BAG54443;CAH56150;CAK32427;NP_001005473;Q63HM9;XP_005248354 Hs.145404 1334682;1338454;1753985;1785534;1785602;1937086;2132854;2141802;2177318;2184657;7184034;7185673 D5S420;D5S430;REN39380;RH15957;RH65393;SHGC-132014;SHGC-13642;SHGC-154613;SHGC-155321;WI-11188 OTTHUMP00000221184;PI-PLC X domain-containing protein 3 protein-coding ENSG00000182836 HGNC:31822 17860 VALIDATED 1347934 PLD4 phospholipase D family, member 4 ENCODES a protein that exhibits catalytic activity (inferred); N-acylphosphatidylethanolamine-specific phospholipase D activity (inferred); phosphatidylinositol phospholipase C activity (inferred); INVOLVED IN glycerophospholipid biosynthetic process (inferred); hematopoietic progenitor cell differentiation (inferred); inositol phosphate metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); integral component of membrane (inferred); INTERACTS WITH diazinon; disodium selenite; fonofos 14 14 14 q32.33 85445332 85453718 + 105391153 105399573 + 104924850 104937649 + 6480464;8554872 12477932;12975309;15489334;16094384;21890473;22446963;23124809;24390342 122618 F5H2B5;G3V3J8;G3V472;Q96BZ4 ABBA01008850;AK295352;AK296188;AL512802;AL583810;AMYH02029957;AY358843;BC015003;CH471061;NM_138790;XM_006720024;XM_006720025 AAH15003;AAQ89202;BAG58319;BAG58918;EAW81887;NP_620145;Q96BZ4;XP_006720087;XP_006720088 Hs.407101 2191263 MARC_16895-16896:1020711008:1 C14orf175;PLD 4 OTTHUMP00000185555;OTTHUMP00000244366;choline phosphatase 4;chromosome 14 open reading frame 175;phosphatidylcholine-hydrolyzing phospholipase D4;phospholipase D4 protein-coding ENSG00000166428 HGNC:23792 11230 VALIDATED 70829 PLD1 phospholipase D1, phosphatidylcholine-specific This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011] 3 3 3 q26 169718435 169928143 - 171318195 171528284 - 171600405 171810494 - 1580863;2299910;6480464;6484113;6907045;8554872 15330336 10090765;10441128;10747870;10764771;10848592;10926929;11032811;11259428;11311142;11373276;11389680;11459228;11821392;11830497;11950840;11950936;12011045;12014986;12149127;12376551;12379803;12388543;12429840;12477932;12593858;12615079;12697812;12782287;12813467;12839565;14596936;14646617;14702039;14718562;14744865;15067001;15210717;15339843;15489334;15668389;16109716;16339545;16341931;16344560;16449386;16517737;16608858;16622417;16873675;16919239;16923831;16978840;17065600;17069807;17071135;17081983;17130901;17433303;17627030;17640750;17724165;17726467;17853892;17897319;17986621;18067864;18344600;18432522;18480413;18541525;18550814;18569866;18573349;18636075;18694819;18945966;19366706;19487697;19707939;19763255;19896495;19946888;19994725;20158570;20188462;20189990;20231899;20379614;20442281;20693286;20711340;21113078;21139048;21228924;21326806;21536681;21620893;21760893;21890473;22024166;22457329;22504301;22609963;22718838;22824913;23000965;23131846;23178798;23314176;23723068;23793974;23804711;23912460;24103483;24250222;24802400;8530346;9013646;9207251;9395408;9565577;9582313;9688545;9761774;9858822 5337 C9IY79;F8WBV7;H7C0L3;Q13393;Q59EA4 AB209907;ABBA01058663;ABBA01058664;ABBA01058665;ABBA01058666;AC008134;AC078953;AJ276230;AK091897;AMYH02008135;AMYH02008136;AMYH02008137;AMYH02008138;BC068976;BX648900;CH471052;DA325526;DA464847;NG_029851;NM_001130081;NM_002662;U38545;XM_005247533;XM_005247534 AAB49031;AAH68976;ADR82735;BAD93144;CAB76564;EAW78480;NP_001123553;NP_002653;Q13393;XP_005247590;XP_005247591 Hs.382865 1661003;1675043;1707612;1764775;1784736;1797998;1850213;1857778;2126230;2138393;2148311;2158838;2165474;2175859;2176559;5019793 A004G48;A009V13;G32874;HSCZTH032;PLD1_2295;RH45153;RH48111;RH68800;RH77864;SHGC-14202;SHGC-148349;SHGC-154070;SHGC-32810;SHGC-77542;SHGC-77547;SHGC-84621 PLD 1;hPLD1 OTTHUMP00000211094;OTTHUMP00000211117;choline phosphatase 1;phosphatidylcholine-hydrolyzing phospholipase D1;phospholipase D1 APPROVED protein-coding ENSG00000075651 HGNC:9067 03855 602382 REVIEWED 1349595 PLCXD1 phosphatidylinositol-specific phospholipase C, X domain containing 1 This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] X X;Y X;Y p22.33; Yp11.32 820894 846333 - 192991 220023 + 276324 303356 + 1580863;6480464 12477932;14702039;15772651;16344560;17207965;19322201;19377476;20016163;21139048;21890473;21906983;22053931;22505724 55344 C9JP92;K7EIC3;Q9NUJ7;X6RFG1 ABBA01005329;ABBA01005330;ABBA01005331;AK002185;AK091006;AK097346;AMYH02038634;AMYH02038635;AX878334;BC000888;BC005028;BC032072;BC033659;BC064136;BU594555;BX000483;BX537334;CH471225;DA052662;DA840761;NG_016868;NM_018390;NR_028057;XM_006724444;XM_006724445;XM_006724446;XM_006724865;XM_006724866;XM_006724867 AAH05028;ADQ32280;BAA92127;CAE90107;EAW66821;EAW66822;NP_060860;Q9NUJ7;XP_006724507;XP_006724508;XP_006724509;XP_006724928;XP_006724929;XP_006724930 Hs.522568 1787454;2177484;5014003;5014051;5014053;5015861;5015869;5016596;5023353;5024039;5024761;5037552;7185938 D10S16;D16S325;D17S1136;D1S3693;D8S2278;D8S2279;D8S467;GDB:313261;GDB:631802;RH36905;RH65138;SHGC-153400 FLJ11323;LL0XNC01-136G2.1 OTTHUMP00000024274;OTTHUMP00000024275;OTTHUMP00000045960;OTTHUMP00000045961;OTTHUMP00000195157;OTTHUMP00000195158;PI-PLC X domain-containing protein 1 APPROVED protein-coding ENSG00000182378 HGNC:23148 06516 REVIEWED 1603543 PLD5 phospholipase D family, member 5 ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; 3,3',5-triiodo-L-thyronine 1 1 1 q43 215507475 215943236 - 242251689 242687998 - 242088387 242524696 - 6480464;8554872 12477932;14702039;19626040;20379614;20663923;21890473;23000965;23251661;23382691;23870195;24057671;24483146 200150 F5GXZ8;F5H329;F8W7H1;J3KP61;Q8N7P1 ABBA01022807;ABBA01022808;ABBA01033271;ABBA01033272;ABBA01033273;ABBA01033274;ABBA01033275;AK091691;AK098092;AK295421;AK307857;AL360271;AL445704;AL583845;AL591686;AMYH02003045;AMYH02003046;AMYH02003047;AMYH02003048;AMYH02003049;AY391836;AY461578;BC101373;BC101374;BC101375;CH471098;DR004966;NM_001195811;NM_001195812;NM_152666;XM_006711752 AAI01374;AAI01375;AAI01376;AAS91020;BAC03722;BAC05230;BAH12060;EAW70111;EAW70112;EAW70113;NP_001182740;NP_001182741;NP_689879;Q8N7P1;XP_006711815 Hs.672452 1664586;1670646;1674597;1692120;1692180;1700382;1701572;1703372;1716553;1717249;1726387;1735396;1770902;1774457;1848812;2146124;2183094 AL009593;AL009886;AL033725;AL033756;D1S1634;D1S1858E;D1S2467;D1S3380;D1S3409;G62494;RH103811;RH104420;RH121562;RH122039;SHGC-53503;SHGC-68669;SHGC-76605 FLJ40773;MGC120565;MGC120566;MGC120567;PLDC OTTHUMP00000037811;OTTHUMP00000237425;inactive PLD 5;inactive choline phosphatase 5;inactive phosphatidylcholine-hydrolyzing phospholipase D5;inactive phospholipase D5 protein-coding ENSG00000180287 HGNC:26879 08812 VALIDATED 1347399 PLCZ1 phospholipase C, zeta 1 The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 12 12 12 p12.3 23981631 24036436 - 18836110 18891020 - 18683176 18738086 - 1580863;6480464;6907045;8554872 12416999;12477932;14697805;14702039;16344560;17196844;17933795;18003622;18322275;18924610;19252507;1979339;19913121;20336759;20378416;20397882;20573804;20628086;21204786;21896550;22086556;22095789;22217962;22428063;22633260;22940771;23916605;24157362 89869 F5GYE4;F5GZK3;F5H2D7;F5H3L4;F5H474;F5H828;H0YFH9;H0YGH7;H0YGY7;H0YH40;Q86YW0;Q8N7S5;Q8N7X7 ABBA01067924;ABBA01067925;AC087242;AF532185;AK097555;AK097725;AK292279;AK314516;AMYH02026126;AMYH02026127;AY035866;BC125067;CH471094;DB038101;GN053466;HB877168;HB895802;HC007220;HC044839;HC934577;HC953211;HY197954;NM_033123;NR_073075;XM_005253519;XM_005253520;XM_005253521;XM_005253522;XM_005253523;XM_005253524;XM_005253526;XM_006719162;XR_429038 AAI25068;AAK61372;AAN71895;BAC05099;BAC05152;BAF84968;CAX52143;CBF62933;CBF74664;CBH19415;CBH30749;CBU87809;CBU96756;EAW96388;EAW96389;EAW96390;NP_149114;Q86YW0;XP_005253576;XP_005253577;XP_005253578;XP_005253579;XP_005253580;XP_005253581;XP_005253583;XP_006719225 Hs.743832;Hs.97542 1683297;2113990 AB070109;RH92603 MGC149685;NYD-SP27;PLC-zeta-1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase zeta-1;OTTHUMP00000239780;OTTHUMP00000239781;OTTHUMP00000239785;PI-phospholipase C zeta 1;PLCzeta;phosphoinositide phospholipase C-zeta-1;phospholipase C-zeta-1;testis-development protein NYD-SP27;testis-development related NYD-SP27 APPROVED protein-coding ENSG00000139151 HGNC:19218 06996 608075 REVIEWED 1602058 PLD6 phospholipase D family, member 6 ENCODES a protein that exhibits cardiolipin hydrolase activity; protein homodimerization activity; INVOLVED IN mitochondrial fusion; DNA methylation involved in gamete generation (ortholog); meiotic nuclear division (ortholog); FOUND IN mitochondrial outer membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 17 17 17 p11.2 18043902 18049239 - 17104309 17109646 - 17200995 17206332 - 6480464 12477932;14702039;17028579;19322201;21397848;21890473;22281006 201164 B4DHV4;Q8N2A8 ABBA01009768;AC055811;AK090899;AK098419;AK295282;AMYH02033088;BC031263;CH471196;DC326979;NG_008001;NM_178836 AAH31263;BAC03541;BAC05303;BAG58266;EAW55718;NP_849158;Q8N2A8 Hs.729079 1659610;1660560;5022578;5037552 A006Y21;D1S1423;D8S2279;RH78552 PLD 6;ZUC OTTHUMP00000065516;choline phosphatase 6;mitoPLD;mitochondrial cardiolipin hydrolase;mitochondrial phospholipase;phosphatidylcholine-hydrolyzing phospholipase D6;phospholipase D6;protein zucchini homolog protein-coding ENSG00000179598 HGNC:30447 14126 614960 VALIDATED 1314267 PLCL2 phospholipase C-like 2 ENCODES a protein that exhibits GABA receptor binding; INVOLVED IN B cell proliferation involved in immune response (inferred); B-1a B cell differentiation (inferred); gamma-aminobutyric acid signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (+)-catechin; aflatoxin B1; atrazine 3 3 3 p24.3 16865522 17071160 + 16974582 17132098 + 16884959 17090606 + 6480464;8554872 10470851;10581172;12421765;12477932;14702039;15231748;16754670;17549794;19898481;21399635;21822266;21833088;24390342;24816145;8889549 23228 H7C276;Q9UPR0 AB029015;ABBA01025124;ABBA01025125;ABBA01025126;ABBA01025127;AC090943;AC091291;AC091491;AEKP01168581;AK023546;AK291419;AL117515;AMYH02006346;BC036392;CH471055;CQ760209;KF457605;N93050;NM_001144382;NM_015184;XM_006713073 AAH36392;ACE87801;ACT64559;BAA83044;BAB14606;BAF84108;CAB55974;CAF32891;EAW64282;EAW64283;NP_001137854;NP_055999;Q9UPR0;XP_006713136 Hs.741267 1699304;1714801;1762757;2109667;2134654;2149346;2155943;2220664 D3S3397;PLCL2_9323;RH103238;RH120067;RH70075;SHGC-146542;SHGC-17248;UniSTS:488216 FLJ13484;KIAA1092;PLC-L(2);PLC-L2;PLCE2 OTTHUMP00000208052;OTTHUMP00000208053;OTTHUMP00000208054;PLC-epsilon-2;inactive phospholipase C-like protein 2;phospholipase C, epsilon 2;phospholipase C-L2;phospholipase C-epsilon-2 protein-coding ENSG00000154822 HGNC:9064 07147 614276 VALIDATED 1317946 PLEK pleckstrin ENCODES a protein that exhibits phosphatidylinositol-3,4-bisphosphate binding; protein homodimerization activity; protein kinase C binding; INVOLVED IN actin cytoskeleton reorganization; cell projection organization; cortical actin cytoskeleton organization; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; membrane; ruffle membrane; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; nickel sulfate 2 2 2 p13.3 68441906 68474166 + 68592322 68624585 + 68365190 68397453 + 1580863;6480464;8554872 10497244;10860665;10995449;12054651;12456365;12477932;14630798;14702039;15489334;15573383;15698571;15761153;15815621;19043545;19546854;19722192;19913121;19944685;19946888;20190752;20628086;21393855;21833088;21890473;22190364;24489884;25015289;2768345;2897630;6457647;6885823;7559487;7782310;8208296;8615792;8694752;8999861;9060471 5341 P08567;Q59GZ2 AB208967;ABBA01075484;AC015969;AK124424;AK130678;AK313756;AMYH02004012;BC018549;BM477542;CH471053;CR542056;CR542079;NM_002664;X07743 AAH18549;AAX93121;ABM84512;ABM85822;BAD92204;BAG36495;CAA30564;CAG46853;CAG46876;EAW99874;EAW99875;EAW99876;NP_002655;P08567 Hs.468840 1651127;1654936 D2S2638;RH111 FLJ27168;P47 OTTHUMP00000159962;platelet 47 kDa protein protein-coding ENSG00000115956 HGNC:9070 15935 173570 VALIDATED 1317914 PLD3 phospholipase D family, member 3 This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014] 19 19 19 q13.2 37653871 37683932 + 40854302 40884392 + 40348395 40378485 + 1580863;6480464;8554872 12477932;15342556;15489334;15790807;15794758;16344560;16580565;18095154;19019082;19056867;19525236;20112697;20195357;20972266;21139048;21752829;21890473;21900206;21906983;21963094;21987572;22268729;22779921;22863883;24336208;24654937;24797263;9140189;9813063 23646 E2QRG1;M0QX50;M0QX99;M0QY94;M0QYJ4;M0QZI4;M0QZK2;M0R1F7;M0R2E7;M0R2W7;M0R3G9;Q8IV08 ABBA01040753;ABBA01040754;AC010271;AC118344;AK293690;AMYH02036109;AMYH02036110;AX537797;AY927565;BC000553;BC036327;BC096820;BP304863;BQ640152;CH471126;CX785201;DA370667;DB057420;NG_034098;NM_001031696;NM_001291311;NM_012268;U60644;XM_005258704;XM_005258705;XM_005258706;XM_005258707;XM_005258708;XM_005258709;XM_005258710;XM_006723121;XM_006723122;XM_006723123;XM_006723124 AAB16799;AAH00553;AAH36327;AAH96820;ADZ15402;BAG57127;CAD57504;EAW56950;EAW56951;EAW56952;EAW56953;EAW56954;EAW56955;EAW56956;EAW56957;EAW56958;EAW56959;NP_001026866;NP_001278240;NP_036400;Q8IV08;XP_005258761;XP_005258762;XP_005258763;XP_005258764;XP_005258765;XP_005258766;XP_005258767;XP_006723184;XP_006723185;XP_006723186;XP_006723187 Hs.257008 1687129;1734684;2109671;5491611 D19S687E;D22S1129;MARC_24344-24345:1030116039:1;PLD3_9392 AD19;HU-K4;HUK4;PLD 3 OTTHUMP00000202292;OTTHUMP00000202323;OTTHUMP00000202324;OTTHUMP00000202325;OTTHUMP00000202326;choline phosphatase 3;hindIII K4L homolog;phosphatidylcholine-hydrolyzing phospholipase D3;phospholipase D3 protein-coding ENSG00000105223 HGNC:17158 07148 615698;615711 REVIEWED 733873 PLD2 phospholipase D2 The protein encoded by this gene catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. The activity of the encoded enzyme is enhanced by phosphatidylinositol 4,5-bisphosphate and ADP-ribosylation factor-1. This protein localizes to the peripheral membrane and may be involved in cytoskeletal organization, cell cycle control, transcriptional regulation, and/or regulated secretion. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] 17 17 17 p13.1 4725830 4742140 + 4710396 4726727 + 4807101 4823432 + 1300048;1580863;2299902;2299908;2299898;2299901;2299910;2299906;2316251;6480464;6484113;6907045;8554872 11185526;11694350;15330336;15601581;15752718;17024567;17393174 10675563;10764771;10801846;10926929;11018470;11032811;11042115;11076863;11373276;11672434;11687572;11741937;11744693;11876650;12149127;12374567;12429836;12446727;12477932;12486109;12519790;12601529;12615079;12646582;12697812;12753082;12782287;14675200;14704231;14718562;14744865;15052337;15052340;15210717;15265082;15282299;15489334;15489336;15548524;15665518;15798205;15896299;15919668;16118212;16341931;16344560;16381901;16407827;16622417;16824927;16837165;16873675;16964281;17276458;17486115;17486117;17627030;17640750;17914593;17977756;17986621;18296444;18344600;18423386;18432522;18523140;18625302;18694819;19086053;19366706;19519662;19578796;19666113;19707939;19864325;19896495;19913121;20147969;20176813;20188462;20410302;20628086;20647543;20711340;20733000;21139048;21145461;21147981;21276418;21308979;21378159;21414324;21440060;21760893;21854185;21906983;21944249;21963094;21987572;22094461;22359512;22504301;23000965;23213138;23238254;23404507;23649737;23723068;23752189;24103483;24164897;24257753;24270883;24637612;24650665;24947526;9395408;9582313;9761774;9837959;9858823 5338 I3L1F3;I3L222;I3L381;I3L3I7;I3L4R5;O14939 AB209374;ABBA01054775;AC109333;AC233723;AF033850;AF035483;AF038440;AF038441;AK304246;AK314797;AMYH02032834;AY178289;BC015033;BC056871;CH471108;DA390950;DC407587;NG_029608;NM_001243108;NM_002663;XM_005256695;XM_005256696;XM_005256697;XM_006721547;XM_006721548 AAB96655;AAB96656;AAC24498;AAD04197;AAH15033;AAH56871;AAO21120;BAD92611;BAH14141;CAL38027;CAL38028;CAL38037;CAL38479;EAW90404;EAW90405;EAW90406;NP_001230037;NP_002654;O14939;XP_005256752;XP_005256753;XP_005256754;XP_006721610;XP_006721611 Hs.104519 1686292;2175798 A006R35;RH12418 PLD 2;PLD1C;hPLD2 OTTHUMP00000115984;choline phosphatase 2;phosphatidylcholine-hydrolyzing phospholipase D2 APPROVED protein-coding ENSG00000129219 HGNC:9068 03857 602384 REVIEWED 1352018 PLEKHA2 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 ENCODES a protein that exhibits fibronectin binding; laminin binding; INVOLVED IN positive regulation of cell-matrix adhesion; PARTICIPATES IN phosphatidylinositol 3-kinase class I signaling pathway; FOUND IN cytoplasm; membrane; protein complex; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 5-aza-2'-deoxycytidine 8 8 8 p11.22 37712048 37783032 + 38758753 38831431 + 38901235 38973912 + 1302742;1580863;6480464;6484113 11001876 11802782;14702039;16421571;18029348;19786618;20379614;22505724;23460911 59339 A8K727;E5RGP3;E5RHB5;Q9HB19 AA985353;ABBA01015934;ABBA01023516;ABBA01023517;AC067817;AC108863;AF286164;AK057205;AK098787;AK291842;AK296068;AK309020;AMYH02017842;AMYH02017843;BQ025762;DC332022;KF495718;NM_021623 AAG15201;AAI66639;BAF84531;BAG58827;NP_067636;Q9HB19 Hs.369123 1664529;1668310;1723653;1774058;1776781;1777524;2184010;5014051;5015619;5015869;5021872;5022200;5037552;5109362;5118444;5124303 D11S3114;D11S3316;D17S1239;D8S1969;D8S2278;D8S2279;G32139;GDB:313261;L18426;RH118744;RH36052;RH42012;RH48892;STS-AA019257;STS-H42485;sY3084 FLJ25921;TAPP-2;TAPP2 PH domain-containing family A member 2;pleckstrin homology domain-containing family A member 2;pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2;tandem PH Domain containing protein-2;tandem PH domain-containing protein 2 protein-coding ENSG00000169499 HGNC:14336 607773 VALIDATED 1346892 PLEKHA3P1 pleckstrin homology domain containing, family A member 3 pseudogene 1 19 19 19 q13.2 38826446 38828163 - 42026396 42028113 - 41520035 41521753 - 91405 ABBA01040811;AC005795;AC243960;NG_000949 1678611 RH93301 PLEKHA3P pseudo HGNC:19648 INFERRED 1345011 PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010] 10 10 10 q26.13 117866583 117924124 + 124134094 124191871 + 122374578 122432355 + 1302742;6480464;6484113;7240710;8554872 11001876 11513726;11802782;12101241;12477932;14516276;14702039;15146197;15164054;15485858;15489334;16080115;16174643;16344560;17000705;17823121;17884985;18029348;18079691;18164066;18654987;19056867;19322201;19948975;20189936;21139048;21906983;21963094;22562153;23577725;24013816;24255178 59338 B3KQL5;Q5RGS4;Q9HB21;R4GMZ9 AB209407;ABBA01062846;AF286160;AK057463;AK075159;AK095775;AK314660;AL133603;AMYH02023950;BC001136;BC041654;BC042458;BE785067;BX647627;BX664700;BX842242;CH471066;CN310748;DA923219;NG_027823;NM_001001974;NM_001195608;NM_021622;R26739;XM_005270016;XM_005270017;XM_005270018;XM_005270019;XM_005270020;XM_005270021;XM_006717935 AAG15197;AAH01136;AAH42458;ABM83192;ABM86393;BAD92644;BAG37218;BAG51917;BAG52077;EAW49315;EAW49316;EAW49317;EAW49318;EAW49319;NP_001001974;NP_001182537;NP_067635;Q9HB21;XP_005270073;XP_005270074;XP_005270075;XP_005270076;XP_005270077;XP_005270078;XP_006717998 Hs.643512;Hs.738826 1681560;1755593;1776345;2119664;2120156;2132969;2157015;5016478;5022450 D10S275;GDB:434012;RH44535;RH66233;RH79571;SHGC-142449;STS-R62957;U75684;WI-17828 TAPP-1;TAPP1 OTTHUMP00000020650;OTTHUMP00000020651;OTTHUMP00000206097;PH domain-containing family A member 1;pleckstrin homology domain-containing family A member 1;pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1;tandem PH domain containing protein-1;tandem PH domain-containing protein 1 APPROVED protein-coding ENSG00000107679 HGNC:14335 09686 603075;607772 REVIEWED 1346745 PLEKHA4 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); membrane (inferred); INTERACTS WITH disodium selenite; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 19 19 19 q13.33 46207718 46239248 - 49340349 49371884 - 48837092 48868627 - 1302742;6480464;8554872 11001876 12477932;15489334;16169070;21988832 57664 M0QXD9;M0QXJ3;M0R0J1;M0R0V1;M0R2K5;Q9H4M7 AB208908;ABBA01032963;AC026803;AMYH02036312;AY007233;BC015956;BC024157;BC025259;BC033832;BC064601;CH471177;NM_001161354;NM_020904;XM_005259107;XM_005259108;XM_005259109;XM_006723301 AAG01896;AAH24157;AAH33832;AAH64601;ABM84360;ABW03560;BAD92145;EAW52406;EAW52407;EAW52408;NP_001154826;NP_065955;Q9H4M7;XP_005259164;XP_005259165;XP_005259166;XP_006723364 Hs.9469 1699262;2107519;5014740;5016478 D17S610;GDB:434012;PLEKHA4__6975;RH103213 PEPP-1;PEPP1 PH domain-containing family A member 4;phosphoinositol 3-phosphate binding protein-1;phosphoinositol 3-phosphate-binding PH domain protein 1;phosphoinositol 3-phosphate-binding protein 1;pleckstrin homology domain-containing family A member 4 protein-coding ENSG00000105559 HGNC:14339 09683 607769 VALIDATED 1314027 PLEK2 pleckstrin 2 INVOLVED IN actin cytoskeleton organization (inferred); intracellular signal transduction (inferred); FOUND IN cell projection (inferred); cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 14 14 14 q23.3 47912754 47937883 - 67853700 67878828 - 67386983 67412111 - 1580863;6480464 10419454;10548495;11911883;12477932;15489334;15865208;17008542;17658464;18029348;21698244;21906983;21963094;22939629;8889549 26499 G3V337;H0YIZ5;H0YJ64;H0YJD0;Q9NYT0 ABBA01023713;AF228603;AL139785;AMYH02029399;BC001226;BC008056;CH471061;NM_016445 AAF34791;AAH01226;AAH08056;ABM82164;ABM85349;EAW80935;NP_057529;Q9NYT0 Hs.170473 1769413 RH68728 OTTHUMP00000245574;OTTHUMP00000245696;pleckstrin 2 homolog;pleckstrin-2 protein-coding ENSG00000100558 HGNC:19238 12151 608007 PROVISIONAL 1344659 PLEKHA5 pleckstrin homology domain containing, family A member 5 ENCODES a protein that exhibits phosphatidylinositol-3,5-bisphosphate binding (inferred); phosphatidylinositol-3-phosphate binding (inferred); phosphatidylinositol-4-phosphate binding (inferred); INVOLVED IN reproductive system development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene 12 12 12 p12 24428283 24674976 + 19282626 19529334 + 19129692 19376400 + 1302742;6480464;8554872 11001876 11058868;11214970;12168954;12477932;14702039;15231747;15324660;15489334;15951569;16344560;16713569;16964243;17081983;19322201;19531213;19946888;20936779;21139048;22037487;23443559;23891004;24255178 54477 A0JP02;B4DJX4;E7EME8;F5H1X3;H0YG48;H0YGJ6;Q9HAU0 AB051473;AB642244;ABBA01067930;ABBA01067931;ABBA01067932;ABBA01067933;ABBA01067934;ABBA01067935;ABBA01067936;ABBA01067937;ABBA01067938;ABBA01067939;ABBA01067940;AC024902;AC087314;AC091805;AC092828;AF302150;AJ270694;AK001529;AK023127;AK026344;AK056054;AK130244;AK294739;AK295151;AK296277;AK297391;AL834259;AMYH02026130;AMYH02026131;AMYH02026132;AMYH02026133;AMYH02026134;AMYH02026135;AMYH02026136;BC000969;BC004164;BC013133;BC044245;BC070174;BC127091;BC127092;CH471094;DB186727;DC311342;DR000821;NM_001143821;NM_001190860;NM_001256470;NM_001256787;NM_019012;XM_005253398;XM_005253399;XM_005253400;XM_006719089;XM_006719090;XM_006719091;XM_006719092;XM_006719093;XM_006719094;XM_006719095;XM_006719096;XR_429037 AAG22817;AAH00969;AAH13133;AAH44245;AAH70174;AAI27092;AAI27093;BAA91742;BAB14419;BAB21777;BAG57882;BAG58167;BAG58986;BAG59831;BAL45489;CAD38934;EAW96392;EAW96393;EAW96394;EAW96395;EAW96396;EAW96397;NP_001137293;NP_001177789;NP_001243399;NP_001243716;NP_061885;Q9HAU0;XP_005253455;XP_005253456;XP_005253457;XP_006719152;XP_006719153;XP_006719154;XP_006719155;XP_006719156;XP_006719157;XP_006719158;XP_006719159 Hs.188614 1657950;1660797;1725951;1755641;1756577;1782714;1847135;2136925;2170871;5015404;5015961;5016478;5022200;5022322;5022450;5022651;5024761;5037552;5109281 D10S275;D11S2560;D11S2921;D12S863;D15S1477;D1S1425;D8S2279;G62290;GDB:434012;L17705;L18426;RH11269;RH36905;RH78296;SHGC-142493;SHGC-143611;SHGC-155479;SHGC-17258;WI-14012 FLJ10667;FLJ26734;FLJ31492;KIAA1686;PEPP-2;PEPP2 OTTHUMP00000237298;OTTHUMP00000237299;OTTHUMP00000237300;OTTHUMP00000237302;OTTHUMP00000239732;PH domain-containing family A member 5;phosphoinositol 3-phosphate-binding protein 2;phosphoinositol 3-phosphate-binding protein-2;pleckstrin homology domain-containing family A member 5 protein-coding ENSG00000052126 HGNC:30036 09684 607770 VALIDATED 731690 PLEC plectin Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as "hemidesmosomal protein 1" or "plectin 1, intermediate filament binding 500kDa". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011] 8 8 8 q24 141303490 141364268 - 144989321 145050913 - 143915147 143976745 - 1599911;6480464;7240710;8554872;8699517 8894687 10446808;10525545;10556294;10637308;10780662;10811835;10891503;11159198;11172097;11328943;11441066;11851880;11854008;12136158;12477932;12482924;12542521;12577067;12791251;12802069;14559777;14668477;14672974;14966116;15231748;15302935;15342556;15500642;15592455;15635413;15654962;15810881;15817481;15951569;16009940;16083285;16097034;16159877;16507904;16565220;16757171;16944923;17081983;17361185;17389230;17397861;17499243;17515952;17662978;18029348;18084872;18155192;18541706;19165527;19199708;19242489;19366731;19596686;19615732;19709076;19725029;19738201;19932097;19945614;20016501;20052759;2023931;20301336;20301582;20447487;20471030;20665883;20686565;20797700;20842667;20876399;20936779;21109228;21139048;21145461;21175599;21182205;21288893;21319273;21420381;21424933;21469503;21743296;21821021;21890473;21906983;21963094;21987572;22139419;22240165;22245045;22266860;22333906;22505724;22536838;22586326;22623428;22863883;22939629;23000965;23182705;23289980;23383273;23398456;23438482;23717685;23774525;23824909;23862649;23874603;23921385;23969696;24097068;24218614;24457600;24583282;24816145;25027693;3027087;8626512;8633055;8636409;8696340;8698233;8830774;8889548;8895530;8941634;9177781;9701547;9808630 5339 E9PIA2;E9PKG0;E9PMV1;E9PQ28;H0YDN1;Q15149 ABBA01005234;ABBA01005235;ABBA01005236;AC109322;AF330792;AMYH02018949;AY480044;AY480045;AY480046;AY480047;AY480048;AY480049;AY480050;AY480051;BC007597;BC013206;BM681271;BP231761;BP312608;BP315878;BP321327;BP359323;CH471162;CS673496;CS690879;FB665632;GM706844;NG_012492;NM_000445;NM_201378;NM_201379;NM_201380;NM_201381;NM_201382;NM_201383;NM_201384;U53204;U63610;X97053;XM_005250976;XM_005250977;XM_005250978;XM_005250979;XM_005250980;XM_005250981;XM_005250982;XM_005250983;XM_005250984;XM_006716588;XM_006716589;XM_006716590;XM_006716591;Z36817;Z54367 AAB05427;AAB05428;AAH07597;AAL37483;AAR95677;AAR95678;AAR95679;AAR95680;AAR95681;AAR95682;AAR95683;AAR95684;CAA65765;CAA91196;CAP07515;CAP11483;CAR97097;CAT82346;EAW82170;EAW82171;EAW82172;EAW82173;EAW82174;NP_000436;NP_958780;NP_958781;NP_958782;NP_958783;NP_958784;NP_958785;NP_958786;Q15149;XP_005251033;XP_005251034;XP_005251035;XP_005251036;XP_005251037;XP_005251038;XP_005251039;XP_005251040;XP_005251041;XP_006716651;XP_006716652;XP_006716653;XP_006716654 Hs.434248 5116966 ha2616 EBS1;EBSO;HD1;LGMD2Q;PCN;PLEC1;PLEC1b;PLTN OTTHUMP00000229282;OTTHUMP00000229283;OTTHUMP00000229284;OTTHUMP00000229285;OTTHUMP00000229286;OTTHUMP00000229287;OTTHUMP00000229626;OTTHUMP00000229627;OTTHUMP00000229628;hemidesmosomal protein 1;plectin 1, intermediate filament binding protein 500kDa;plectin-1 APPROVED protein-coding ENSG00000178209 HGNC:9069 03180 131950;226670;601282;612138;613723 REVIEWED 1351574 PLEKHA8P1 pleckstrin homology domain containing, family A member 8 pseudogene 1 ENCODES a protein that exhibits glycolipid binding (inferred); glycolipid transporter activity (inferred); INVOLVED IN glycolipid transport (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH atrazine; thapsigargin; tunicamycin 12 12 12 q 44370526 44413481 - 45566817 45609789 - 45173034 45216006 - 737633;6480464 12477932 11001876;14702039;17207965;8889548 51054 O95397 ABBA01031441;AC009248;AF103731;AF380162;AK024218;AMYH02026397;AMYH02026398;BC028914;BC063575;BU741550;CH471111;NR_037144 AAC97956;AAH63575;AAK55424;ADQ32602;EAW57878;EAW57879;EAW57880;O95397 Hs.233495;Hs.558495 1680773;1777061;1781230 D12S1314;RH92407;stSG67529 FLJ14156;PLEKHA9 putative glycolipid transfer protein APPROVED pseudo ENSG00000134297 HGNC:30222 15143 VALIDATED 1348276 PLEKHA8 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 ENCODES a protein that exhibits ceramide binding; glycolipid binding; glycolipid transporter activity; INVOLVED IN ER to Golgi ceramide transport; lipid transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN trans-Golgi network; INTERACTS WITH arsane; arsenic atom; ethyl methanesulfonate 7 7 7 p21-p11.2 30057679 30119744 + 30067977 30157961 + 30028361 30118345 + 1302742;737633;6480464;8554872 11001876;12477932 12747765;14702039;15107860;16103222;17116893;17687330;18459163;19341712;19940249;20482226;21890473;22266015;22675492;23000965;24250222 84725 B5MDU3;J3KQS5;Q96JA3 AB073667;ABBA01056809;ABBA01056810;ABBA01056811;AC007036;AC007285;AF308300;AI168153;AI954066;AK023180;AK294857;AL832700;AMYH02015451;AMYH02015452;AMYH02015453;BC002838;BC053990;CH471073;CR627312;NM_001197026;NM_001197027;NM_032639;XM_005249897;XM_005249898 AAG48267;AAH02838;AAH53990;ABM84424;ABM87457;BAB14449;BAG57961;EAW93930;EAW93931;EAW93932;EAW93933;NP_001183955;NP_001183956;NP_116028;Q96JA3;XP_005249954;XP_005249955 Hs.233495;Hs.734170 1338906;1659945;1680773;1856266;2144464;2185554;7186811 D7S2492;RH47354;RH69225;RH92407;SHGC-56012;WI-17895 DKFZp313M1034;DKFZp686J09164;FAPP-2;FAPP2;MGC3358;hFAPP2 OTTHUMP00000123378;OTTHUMP00000123379;OTTHUMP00000123380;OTTHUMP00000202309;PH domain-containing family A member 8;phosphatidylinositol-four-phosphate adapter protein 2;phosphoinositol 4-phosphate adapter protein 2;phosphoinositol 4-phosphate adaptor protein-2;pleckstrin homology domain-containing family A member 8;serologically defined breast cancer antigen NY-BR-86 protein-coding ENSG00000106086 HGNC:30037 10555 608639 VALIDATED 1313158 PLEKHA3 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 ENCODES a protein that exhibits phospholipid binding; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi apparatus; INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; trichostatin A 2 2 2 q31.2 172948086 172972669 + 179345199 179369783 + 178480472 178505705 + 1302742;1580863;6480464;8554872 11001876 12477932;14702039;15107860;15252450;15489334;16341674;18187620;20300118;21298564;21454700;24250222;24816145 65977 F8WCR7;H7C0Q0;Q9HB20 ABBA01062246;AC009948;AF286162;AK000074;AK074209;AK314459;AMYH02005326;AMYH02005327;BC035471;BC039812;BC044567;BM794932;CH471058;DQ786318;NM_019091;XM_006712713 AAG15199;AAH44567;AAX88884;ACE86891;ACE87578;BAA90927;BAG37067;EAX11023;EAX11024;EAX11025;EAX11026;NP_061964;Q9HB20;XP_006712776 Hs.41086 1678611;1703884;2167989 RH66213;RH93301;SHGC-83589 FAPP-1;FAPP1;FLJ20067 OTTHUMP00000205697;PH domain-containing family A member 3;four-phosphate-adaptor protein 1;phosphatidylinositol-four-phosphate adapter protein 1;phosphoinositol 4-phosphate adapter protein 1;pleckstrin homology domain-containing family A member 3;pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3 protein-coding HGNC:14338 09688 607774 VALIDATED 1353676 PLEKHA6 pleckstrin homology domain containing, family A member 6 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 3-methylcholanthrene; all-trans-retinoic acid 1 1 1 q32.1 177323436 177464478 - 204187979 204329057 - 204218851 204359929 - 1302742;6480464;8554872 11001876 10231032;10737800;12477932;14702039;15203218;15951569;16341674;16964243;17110338;17452356;17456239;19536175;20379614;20936779;21163940;23362303;23535732 22874 Q5VTI5;Q9Y2H5 AB023186;ABBA01027447;ABBA01027448;AK092454;AK096673;AK299780;AL571585;AL592114;AL606489;AMYH02002533;AMYH02002534;BC010522;BC073995;BC090947;BC152475;BE701705;BF995878;BG011951;BM855051;BX954305;CD626363;CH471067;DQ925685;DQ925686;DQ925687;DQ925688;DQ925689;DQ925690;DQ925691;EF491786;EF491788;EF491809;NM_014935;XM_005244966;XM_005244967;XM_005244968;XM_006711212;XM_006711213;XM_006711214;XM_006711215;XM_006711216;XM_006711217;XM_006711218;XM_006711219;XM_006711220;XM_006711221;XM_006711222;XM_006711223 AAH10522;AAI52476;AAI67845;ABL59912;ABL59913;ABL59914;ABL59915;ABL59916;ABL59917;ABL59918;BAA76813;BAG61662;EAW91509;EAW91510;NP_055750;Q9Y2H5;XP_005245023;XP_005245024;XP_005245025;XP_006711275;XP_006711276;XP_006711277;XP_006711278;XP_006711279;XP_006711280;XP_006711281;XP_006711282;XP_006711283;XP_006711284;XP_006711285;XP_006711286 Hs.253146 1648912;1666370;1692330;1758039;1767395;1775553;1781574;2121561;2124992;2142079;2158383;2158385;2159122;2159790;2188291 A005T46;AFMa130xc1;AL009483;AL010012;AL033822;D1S2480;G20493;G66173;RH65974;SHGC-147188;SHGC-147555;SHGC-76176;SHGC-76183;SHGC-76194;WI-11131 KIAA0969;MGC176733;PEPP-3;PEPP3 OTTHUMP00000034310;OTTHUMP00000038673;PH domain-containing family A member 6;phosphoinositol 3-phosphate-binding protein 3;phosphoinositol 3-phosphate-binding protein-3;pleckstrin homology domain-containing family A member 6 protein-coding ENSG00000143850 HGNC:17053 09685 607771 VALIDATED 1322147 PLEKHB2 pleckstrin homology domain containing, family B (evectins) member 2 FOUND IN endosome (inferred); membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; calcitriol; cobalt dichloride 2 2 2 q21.1 124670149 124715261 - 131862420 131907425 + 131104847 131149852 + 632809;1580863;6480464 10200314 11001876;12477932;14702039;15231747;15231748;15342556;15489334;16169070;16344560;16751776;17353931;21911378;22281740;22505724;24250222;8125298 55041 B4DJB7;B7WPA5;Q96CS7 ABBA01004564;ABBA01004565;AC009477;AC073869;AC131180;AI458777;AK000790;AK054998;AK074259;AK093730;AK123710;AK126289;AK223338;AK293880;AK296008;AK302770;AMYH02004803;AMYH02004804;AMYH02004805;AMYH02004806;BC001428;BC013991;BC050695;BP362174;BQ052811;BQ649140;BQ719002;BU174451;CH471250;CK000843;DB294071;DC303684;DQ589845;DR761393;NM_001100623;NM_001267062;NM_001267063;NM_001267064;NM_001267065;NM_001267066;NM_001267067;NM_001267068;NM_017958;NR_049789;NR_049790;NR_049791;NR_049792;XM_006712607 AAH01428;AAH13991;AAH50695;AAX93135;ABM82879;ABM86065;BAA91379;BAD97058;BAG53942;BAG57269;BAG58779;BAG63978;EAW51260;EAW51261;EAW51262;EAW51263;EAW51264;EAW51265;EAW51266;NP_001094093;NP_001253991;NP_001253992;NP_001253993;NP_001253994;NP_001253995;NP_001253996;NP_001253997;NP_060428;Q96CS7;XP_006712670 Hs.469944;Hs.708368 1666388;1674812;1679067;1734254;1734980;1769137;2179352;5014051;5022200;5037552 D2S1502E;D2S1723E;D8S2278;D8S2279;L18426;RH48295;RH69454;RH93192;SHGC-64085;WI-15619 EVT2;FLJ20783;FLJ23679;FLJ30436 OTTHUMP00000162428;OTTHUMP00000197850;OTTHUMP00000203955;OTTHUMP00000203956;OTTHUMP00000205940;PH domain-containing family B member 2;evectin-2;pleckstrin homology domain-containing family B member 2 protein-coding ENSG00000115762 HGNC:19236 15144 VALIDATED 1323798 PLEKHF2 pleckstrin homology domain containing, family F (with FYVE domain) member 2 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN protein transport (inferred); FOUND IN transport vesicle; INTERACTS WITH cobalt dichloride; copper(2+) sulfate; coumestrol 8 8 8 q22.1 92330955 92353916 + 96145949 96168913 + 95133721 95156685 + 1580863;6480464 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16189514;16381901;17081983;18288467;19060904;19322201;19995552;20923822;21832049;22816767;23000965;24416124 79666 Q9H8W4 AA767886;ABBA01037477;ABBA01037478;AC018801;AF434819;AK023249;AL834473;AMYH02018443;AMYH02018444;BC011806;CH471060;NM_024613 AAH11806;AAL30774;ABM84335;ABM87727;BAB14486;CAD39132;CAL37459;CAL38501;EAW91743;NP_078889;Q9H8W4 Hs.29724 1654908;1698336 RH102709;SHGC-34280 EAPF;FLJ13187;PHAFIN2;ZFYVE18 OTTHUMP00000227182;PH and FYVE domain-containing protein 2;PH domain-containing family F member 2;endoplasmic reticulum-associated apoptosis-involved protein containing PH and FYVE domains;pleckstrin homology domain-containing family F member 2;zinc finger FYVE domain-containing protein 18 protein-coding ENSG00000175895 HGNC:20757 15147 615208 VALIDATED 1321123 PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; (S)-nicotine; arsenous acid 6 6 6 q25.1 151655965 151898659 + 150920999 151164801 + 150599863 150843665 + 1580863;6480464;8554872 10574462;12477932;14574404;14702039;17081983;19165232;20379614;20641033;22488850;23251661;23535033;23972371;24058526;24255178 57480 B4DGV7;H0YD71;Q5JYA6;Q5T1F3;Q9ULL1 AB033035;ABBA01025654;ABBA01025655;ABBA01025656;ABBA01025657;ABBA01025658;ABBA01025659;AJ420468;AK056300;AK293288;AK294798;AK307631;AL035086;AL450339;AL450344;AMYH02014706;AMYH02014707;AMYH02014708;AMYH02014709;AMYH02014710;AMYH02014711;BC089428;BC140864;BC151134;CH471051;NM_001029884;XM_005267064;XM_005267065;XM_005267066;XM_005267067;XM_006715520;XM_006715521;XM_006715522 AAH89428;AAI40865;AAI51135;BAA86523;BAG51672;BAG56812;BAG57918;EAW47765;EAW47766;EAW47767;NP_001025055;Q9ULL1;XP_005267121;XP_005267122;XP_005267123;XP_005267124;XP_006715583;XP_006715584;XP_006715585 Hs.189781 1340687;1644806;1647382;1648834;1655010;1665087;1667314;1668126;1674468;1699596;1721111;1727003;1739077;1739083;1739091;1779025;1848762;1858343;2127892;2129001;2133847;5015861;5020948;5093868;7185938 A009Y09;D10S16;D6S1350;D6S1353;D6S1357;D6S1496;D6S1687;D6S1853;G32971;G35510;G59540;G62899;RH103399;RH16295;RH16495;RH37419;RH70117;SGC44518;SHGC-33535;SHGC-34485;SHGC-36177;SHGC-44518;SHGC-57056;STS-T93958 ARHGEF41;FLJ31738;KIAA1209 OTTHUMP00000017413;OTTHUMP00000017414;pleckstrin homology domain-containing family G member 1 protein-coding ENSG00000120278 HGNC:20884 PROVISIONAL 1347482 PLEKHD1 pleckstrin homology domain containing, family D (with coiled-coil domains) member 1 INTERACTS WITH mercaptopurine (ortholog); purine-6-thiol (ortholog) 14 14 14 q24.1 50015608 50059327 + 69951471 69995215 + 69484754 69528498 + 6480464 10737800;12477932;12508121;21906983 400224 A6NEE1 ABBA01030827;AK126770;AL133445;AL157996;AMYH02029435;AMYH02029436;BC146872;CH471061;CV325135;KF455923;NM_001161498;XM_063135 A6NEE1;AAI46873;EAW80997;EAW80998;NP_001154970 Hs.509796 1661885;1773772;2155255;5014051;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;FB3D3;L18426;RH78205;WI-15292 FLJ44817;UPF0639 OTTHUMP00000245515;PH domain-containing family D member 1;pleckstrin homology domain containing, family D (with M protein repeats) member 1;pleckstrin homology domain-containing family D member 1 APPROVED protein-coding HGNC:20148 VALIDATED 1321508 PLEKHF1 pleckstrin homology domain containing, family F (with FYVE domain) member 1 ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding; phosphatidylinositol-4-phosphate binding; phosphatidylinositol-5-phosphate binding; INVOLVED IN endosome organization; positive regulation of autophagy; protein localization to plasma membrane; FOUND IN endosome; lysosome; INTERACTS WITH (S)-colchicine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 19 19 19 q12 26854527 26864585 + 30156327 30166384 + 29665420 29675477 + 1580863;6480464 12477932;14702039;15489334;16188880;16189514;18029348;21139048;22115783 79156 B4DWN9;K7EIX0;K7ELB8;Q96S99 ABBA01039543;AC010512;AC010644;AF434818;AK027758;AK301616;AMYH02035877;AY037145;BC002744;BC018876;NM_024310;XM_005259256;XM_006723378 AAH02744;AAK67626;AAL30773;BAB55349;BAG63101;NP_077286;Q96S99;XP_005259313;XP_006723441 Hs.466383 1680439 RH66127 APPD;LAPF;MGC4090;PHAFIN1;ZFYVE15 PH and FYVE domain-containing protein 1;PH domain-containing family F member 1;apoptosis-inducing protein D;lysosome-associated apoptosis-inducing protein containing PH and FYVE domains;phafin 1;phafin-1;pleckstrin homology domain-containing family F member 1;zinc finger FYVE domain-containing protein 15 protein-coding ENSG00000166289 HGNC:20764 15146 615200 VALIDATED 1343334 PLEKHB1 pleckstrin homology domain containing, family B (evectins) member 1 ENCODES a protein that exhibits protein C-terminus binding (inferred); protein homodimerization activity (inferred); signal transducer activity (inferred); INVOLVED IN multicellular organismal development (inferred); regulation of cell differentiation (inferred); FOUND IN integral component of membrane; INTERACTS WITH 1-nitropyrene; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 11 11 11 q13.5-q14.1 70662626 70679269 + 73357223 73373864 + 73646178 73662819 + 1580863;6480464 10585447;10923244;12477932;14702039;15489334;15761153;19913121;20301200;20308990;20628086;23275563;24840802 58473 F5GY87;F5GY96;F5GYU9;F5GZ38;F5GZH3;F5H0R6;F5H114;F5H190;F5H1B8;F5H3M1;F5H866;Q9UF11 AB209716;ABBA01017512;AF081583;AF093249;AF100612;AF101054;AF179306;AK054725;AK289620;AK289909;AK290109;AK296033;AK301299;AK311158;AK314748;AL712105;AMYH02025090;AP000860;AP002993;BC008075;CH471076;CK819503;DC305763;EB387039;NM_001130033;NM_001130034;NM_001130035;NM_001130036;NM_021200;U89715;XM_006718641 AAF16675;AAF16684;AAF18572;AAF18932;AAF21786;AAG13807;AAH08075;ADZ15828;BAD92953;BAF82309;BAF82598;BAF82798;BAG37288;BAG51417;BAH12242;BAH13452;EAW74900;EAW74901;EAW74902;EAW74903;EAW74904;EAW74905;EAW74906;NP_001123505;NP_001123506;NP_001123507;NP_001123508;NP_067023;Q9UF11;XP_006718704 Hs.445489 1662296;1773088;2143747;2181326;5092334 A002P06;G34861;G42179;RH12899;SGC31238 KPL1;PHR1;PHRET1 OTTHUMP00000237624;OTTHUMP00000237625;OTTHUMP00000237627;OTTHUMP00000237628;OTTHUMP00000237629;OTTHUMP00000237631;OTTHUMP00000237632;OTTHUMP00000237633;OTTHUMP00000237634;OTTHUMP00000237636;OTTHUMP00000237637;OTTHUMP00000237638;OTTHUMP00000237639;OTTHUMP00000237640;PH domain containing protein in retina 1;PH domain containing, retinal 1;PH domain-containing family B member 1;PH domain-containing protein in retina 1;evectin-1;pleckstrin homology domain retinal protein 1;pleckstrin homology domain-containing family B member 1 protein-coding ENSG00000021300 HGNC:19079 09630 607651 VALIDATED 1346378 PLEKHG3 pleckstrin homology domain containing, family G (with RhoGef domain) member 3 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; arsane 14 14 14 q23.3 45228934 45268795 + 65171132 65213623 + 64703870 64746905 + 6480464;8554872 12477932;21139048;21360829;23000965;9628581 26030 A1L390;G3V278;G3V2V2;G3V311;G3V3I3 AB011171;ABBA01018368;AK074169;AL121774;AMYH02029362;BC004298;BC011891;BC063554;BC073907;BC086862;BC129952;BC129953;BX248779;CH471061;KF455912;NM_015549;XM_005267511;XM_005267512;XM_005267513;XM_006720106;XM_006720107;XM_006720108 A1L390;AAH04298;AAH11891;AAH63554;AAH73907;AAI29953;AAI29954;BAA25525;BAB84995;CAD66586;EAW80869;EAW80870;EAW80871;EAW80872;EAW80873;NP_056364;XP_005267568;XP_005267569;XP_005267570;XP_006720169;XP_006720170;XP_006720171 Hs.509637 1337172;1340117;1670064;1677356;1690442;1706808;1722775;1739411;2117962;2133975;2163909;2169597;5015619;5109663 D11S3114;D14S1024;D14S1046;D14S817E;D14S830;D7S2067E;G35477;G35654;G60327;RH36893;RH44753;RH91150;SGC33039;SHGC-80881 ARHGEF43;KIAA0599;MGC156299;MGC156300 OTTHUMP00000028327;OTTHUMP00000245294;PH domain-containing family G member 3;pleckstrin homology domain containing, family G, member 3;pleckstrin homology domain-containing family G member 3 protein-coding ENSG00000126822 HGNC:20364 17861 VALIDATED 1349345 PLEKHG2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN apoptotic signaling pathway (inferred); neurotrophin TRK receptor signaling pathway (inferred); positive regulation of apoptotic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH (+)-catechin; diazinon; genistein 19 19 19 q13.2 36705440 36720745 + 39903222 39919055 + 39412582 39428415 + 737633;1580863;6480464;8554872 12477932 11756498;11839748;12376548;12787561;14702039;15231747;18045877;19911011;21832049;23000341;23811570;24001768;24378532;24554703 64857 C9J7S4;C9JVL3;E7ESZ3;H7BXC7;M0QX05;M0QZT7;M0R0V0;M0R348;M0R391;M0R3G5;M0R3J0;Q9H7P9 ABBA01040729;AC011500;AK024429;AK026111;AK095957;AK302476;AL832850;AMYH02036093;BC013426;BC015174;BC075858;CH471126;NM_022835;XM_005259163;XM_006723329;XM_006723330;XM_006723331;XM_006723332;XM_006723333;XM_006723334 AAH13426;AAH15174;AAH75858;BAB15364;BAB15719;BAG63764;EAW56887;EAW56888;EAW56889;EAW56890;EAW56891;NP_073746;Q9H7P9;XP_005259220;XP_006723392;XP_006723393;XP_006723394;XP_006723395;XP_006723396;XP_006723397 Hs.631574 2191251;5014051;5015621;5016700;5022450;5024761;5037552;5109281 D10S275;D11S3732;D1S1425;D8S2278;D8S2279;MARC_16805-16806:1042838652:1;RH36905;RH79802 ARHGEF42;CLG;DKFZp667J2325;FLJ00018;FLJ22458;FLJ38638 CTB-60E11.4;OTTHUMP00000201969;OTTHUMP00000201970;OTTHUMP00000201971;PH domain-containing family G member 2;common-site lymphoma/leukemia guanine nucleotide exchange factor;pleckstrin homology domain-containing family G member 2 protein-coding ENSG00000090924 HGNC:29515 15148 611893 VALIDATED 1604025 PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 The protein encoded by this gene contains multiple domains suggestive of a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Mutations in this gene are associated with spinocerebellar ataxia 16q22-linked. Several alternatively spliced transcript variants, differing only in the 5' UTR, or encoding a different isoform, have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51819638 51831669 + 67311413 67323403 + 67277510 67289500 + 6480464;8554872 12477932;12796826;14702039;15148151;15455264;15489334;16001362;16344560;16491300;16713569;16780885;17357132;17611710;18482007;19065522;20424877;21357611;21906983;21963094;22505724;8755926 25894 H3BME5;H3BPA8;H3BPQ5;H3BQ60;H3BQE6;H3BQP9;H3BSU4;J3QSC9;Q58EX7 AB197663;AB197664;ABBA01025433;ABBA01025434;AC040160;AK024475;AK304723;AK308298;AL117435;AMYH02032230;BC001520;BC054486;BC063501;BC082974;BC115389;BC115390;CH471092;DB061030;DB279205;NG_008439;NM_001129727;NM_001129728;NM_001129729;NM_001129731;NM_015432;XR_429717 AAH54486;AAH63501;AAH82974;BAB15765;BAE07054;BAE07055;BAG65486;CAB55923;EAW83117;EAW83118;EAW83119;EAW83120;EAW83121;NP_001123199;NP_001123200;NP_001123201;NP_001123203;NP_056247;Q58EX7 Hs.188781 1337075;1337494;1683094;1689684 D16S397;D18S1095;RH65202;RH92943 ARHGEF44;DKFZp434I216;PRTPHN1;SCA4 PH domain-containing family G member 4;Purkinje cell atrophy associated protein 1;Purkinje cell atrophy-associated protein 1;pleckstrin homology domain-containing family G member 4;puratrophin-1 APPROVED protein-coding ENSG00000196155 HGNC:24501 10890 609526 REVIEWED 1604901 PLEKHG7 pleckstrin homology domain containing, family G (with RhoGef domain) member 7 ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred) 12 12 12 q22 92801387 92836959 + 93115122 93166231 + 92736489 92772455 + 12477932;20379614;21658281 440107 Q6ZR37;R4GMP4 ABBA01053392;AC016136;AK128530;AMYH02026931;BC137086;NM_001004330;XM_006719402 AAI37087;BAC87483;NP_001004330;Q6ZR37;XP_006719465 Hs.591013 FLJ46688 OTTHUMP00000242835;PH domain-containing family G member 7;pleckstrin homology domain-containing family G member 7 protein-coding ENSG00000187510 HGNC:33829 17004 VALIDATED 1350975 PLEKHA7 pleckstrin homology domain containing, family A member 7 ENCODES a protein that exhibits delta-catenin binding; INVOLVED IN epithelial cell-cell adhesion; zonula adherens maintenance; PARTICIPATES IN E-cadherin signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centrosome; extracellular vesicular exosome; zonula adherens; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 11 11 11 p15.1 16936331 17162547 - 16809207 17035963 - 16777297 17014416 - 737633;6480464;6484113;8554872 12477932 11181995;15146197;18029348;19041755;19056867;19430479;19615732;20193553;20379614;20414254;20479155;20808826;21045733;21139048;21454477;21890473;21909110;21963141;22542108;22922875;23000965;23444366;23505305;24255178;24474268;24801512;24854855 144100 E9PIK1;E9PKC0;E9PL74;E9PN45;H0YDE2;Q6IQ23 ABBA01061075;ABBA01061076;ABBA01061077;ABBA01061078;ABBA01061079;ABBA01061080;ABBA01061081;AC026639;AC116533;AC127033;AC131064;AK296371;AK301465;AMYH02024374;AMYH02024375;AMYH02024376;AMYH02024377;AW135567;BC032761;BC033239;BC041452;BC071599;BX648885;CH471064;CN293588;NM_175058;XM_005252802;XM_006718149;XM_006718150;XM_006718151;XM_006718152;XM_006718153 AAH33239;AAH41452;AAH71599;BAG59045;BAG62985;EAW68452;EAW68454;NP_778228;Q6IQ23;XP_005252859;XP_006718212;XP_006718213;XP_006718214;XP_006718215;XP_006718216 Hs.12332;Hs.733020 1337123;1645850;1650858;1663938;1716549;1720035;1737681;1737695;1782294;1782476;2116075;2129283;2176125;2178772;2186485 D11S1059;D11S1890;D11S3284;D11S3297;D11S4099;RH121560;RH123812;RH17948;RH35799;RH45832;SHGC-112562;SHGC-171524;SHGC-30765;SHGC-33574;STS-N66954 DKFZp686M22243 OTTHUMP00000231600;OTTHUMP00000231602;PH domain-containing family A member 7;pleckstrin homology domain containing, family A member 2;pleckstrin homology domain-containing family A member 7 protein-coding ENSG00000166689 HGNC:27049 15142 612686 VALIDATED 1606952 PLEKHG4B pleckstrin homology domain containing, family G (with RhoGef domain) member 4B ENCODES a protein that exhibits Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; valproic acid 5 5 5 p15.33 240079 289697 + 140373 190087 + 92190 189972 + 6480464;8554872 11572484;12477932;21139048;21890473 153478 Q96HN1;Q96PX9 AB067496;ABBA01034263;ABBA01034264;AC010443;AC021087;AC113430;AI561188;AK075513;AK125163;AK309784;AMYH02010745;AMYH02010746;BC008352;HG497651;KF457844;NM_052909;XM_006714446 AAH08352;AAI56563;AAI72524;BAB67802;NP_443141;Q96PX9;XP_006714509 Hs.535800 2129080;5016478;5021872 G09365;GDB:434012;sY3084 FLJ43173;KIAA1909 CTD-2231H16.1;OTTHUMP00000220406;PH domain-containing family G member 4B;pleckstrin homology domain-containing family G member 4B protein-coding ENSG00000153404 HGNC:29399 13900 VALIDATED 1351016 PLEKHH2 pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 ENCODES a protein that exhibits actin binding (ortholog); INVOLVED IN negative regulation of actin filament depolymerization (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; lamellipodium; plasma membrane; INTERACTS WITH atrazine; cadmium atom; curcumin 2 2 2 p21 43703213 43833863 + 43864439 43995126 + 43637298 43767987 + 6480464;8554872 11076863;11230166;11256614;12477932;15489336;16381901;18752002;22832517;23503679 130271 E5RGK1;H0YBV1;Q8IVE3 AB095948;ABBA01075094;ABBA01075095;ABBA01075096;ABBA01075097;AC011242;AK124381;AK126308;AL832207;AL833400;AL833473;AL833546;AMYH02003697;AMYH02003698;AMYH02003699;BC031914;BC063310;NM_172069;XM_005264140;XM_006711941;XR_244923;XR_244924;XR_426981 AAH63310;BAC23124;CAD38637;CAI46132;CAL37417;NP_742066;Q8IVE3;XP_005264197;XP_006712004 Hs.164162 1339845;1654630;1726949;1779155;1789562;2185883;5014051;5037552 D2S2294;D2S4010;D8S2278;D8S2279;G62720;RH45614;RH45690;RH68901 KIAA2028;PLEKHH1L OTTHUMP00000158830;OTTHUMP00000201630;pleckstrin homology domain-containing family H member 2 protein-coding ENSG00000152527 HGNC:30506 15149 612723 VALIDATED 1603206 PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 1 1 1 p36.31 5640600 5693925 - 6526152 6580121 - 6466092 6520061 - 6480464;7240710;8554872;8699517 11756498;12376548;12477932;12761501;12787561;14702039;16344560;17564964;19305408;19773279;22087225;22807448;23335514;23777631;23844677;24126053;8889548;9872452 57449 O94827;Q5SY18 AB018263;AB097001;ABBA01035451;ABBA01035452;ABBA01035453;ABBA01035454;ABBA01035455;ABBA01035456;AK024676;AK091201;AK096347;AK125550;AK128021;AK131074;AK294875;AK299523;AK301239;AL158217;AL591866;AMYH02000177;AMYH02000178;BC015231;BC036671;BC042606;BF033726;BG698980;BQ185626;CH471130;DA091930;DA100291;DA126163;DB093234;DB225012;NG_007978;NM_001042663;NM_001042664;NM_001042665;NM_001265592;NM_001265593;NM_001265594;NM_020631;NM_198681 AAH15231;BAA34440;BAC77354;BAC85124;BAG52304;BAG53269;BAH11909;BAH13058;BAH13439;CAI22159;EAW71539;NP_001036128;NP_001036129;NP_001036130;NP_001252521;NP_001252522;NP_001252523;NP_065682;NP_941374;O94827 Hs.284232;Hs.619982 1781712;1781778;1781806;2112924;2133667;2146641;2147800;2164049 A006V30;D1S3701;RH68223;SHGC-155205;SHGC-155709;SHGC-156104;SHGC-74147;SHGC-74157 CMTRIC;DSMA4;GEF720;KIAA0720;RP4-650H14.3;Syx;Tech NFkB activating protein;OTTHUMP00000001050;OTTHUMP00000001051;OTTHUMP00000001052;OTTHUMP00000001053;OTTHUMP00000001054;OTTHUMP00000001055;PH domain-containing family G member 5;guanine nucleotide exchange factor 720;novel PH domain-containing protein;pleckstrin homology domain containing family G member 5;pleckstrin homology domain-containing family G member 5;synectin-binding guanine exchange factor APPROVED protein-coding ENSG00000171680 HGNC:29105 11104 611067;611101;615376 REVIEWED 2302829 PLEKHM1P pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN intracellular signal transduction (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); 4-hydroxynon-2-enal (ortholog) 17 17 17 q24.1 2184 2454 - 62780959 62833302 - 64784841 64837184 - 6480464 12477932;16344560;21906983 440456 Q69YJ1 ABBA01011157;ABBA01035282;AC103810;AK301174;AK303621;AK304173;AK308180;AL833315;AMYH02033799;BC034693;DA759804;KF456307;NR_024386 BAG62761;BAG64630;BAG65056;CAH10578;Q69YJ1 Hs.646585 1339100;2115458;2129313;2143847;5014051;5016781;5020948;5021872;5037552;5109281 D17S1557;D17S633;D1S1425;D8S2278;D8S2279;G35510;RH48419;SHGC-52535;SHGC-67307;sY3084 pseudo HGNC:35411 VALIDATED 1354234 PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1 The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 17 q21.31 40222636 40240265 - 43513266 43568146 - 45435900 45490780 - 6480464;7240710;8699517;8554872 12477932;12820725;15383276;16169070;16344560;17404618;17997709;20070850;20943950;21900206;21906983;23544013;9205841 9842 J3KRL8;J3KRU0;J3KS30;K7EII8;K7EMP2;K7EPF2;K7EQ68;Q9Y4G2 AB002354;ABBA01017256;ABBA01028313;ABBA01028314;AC091132;AC217778;AC244207;AJ002220;AK074103;AK299116;AK299467;AL389948;BC053848;BC064361;CH471178;DB064851;NG_012932;NM_014798;NR_027774;NR_027782;X85792;XM_006722201;XM_006722202;XM_006725277;XM_006725278;XM_006725632;XM_006725633 AAH64361;BAA20813;BAB84929;BAG61171;BAG61433;CAA59791;CAB91652;CAB97526;EAW51526;NP_055613;Q9Y4G2;XP_006722264;XP_006722265;XP_006725340;XP_006725341;XP_006725695;XP_006725696 Hs.514242 1339100;2110663;2115458;2129313;2143847;2172972 D17S1557;D17S633;PLEKHM1_9003;RH48419;SHGC-52535;WI-15095 AP162;B2;KIAA0356;OPTB6 162 kDa adapter protein;PH domain-containing family M member 1;pleckstrin homology domain-containing family M member 1 APPROVED protein-coding ENSG00000225190 HGNC:29017 11439 611466;611497 REVIEWED 1605382 PLEKHG6 pleckstrin homology domain containing, family G (with RhoGef domain) member 6 ENCODES a protein that exhibits GTPase activator activity (inferred); Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of Rho GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH arsenous acid; calcitriol; diarsenic trioxide 12 12 12 p13.31 8036249 8054316 + 6419602 6437672 + 6310436 6328506 + 6480464;8554872 12477932;14702039;16721066;17881735;18694934;19129481;19421144;20634288;22505724;23251661;24482237 55200 F5H731;Q3KR16 ABBA01017637;ABBA01017638;AC006057;AF289613;AK001527;AK023741;AK095373;AMYH02025948;AMYH02025949;AW001611;BC040273;BC104751;BC105961;BC109095;BU754580;CH471116;NM_001144856;NM_001144857;NM_018173;XM_005253704;XM_005253705;XM_005253706;XM_006718985 AAI04752;AAI05962;AAI09096;AAL55797;BAA91741;BAC04539;EAW88807;EAW88808;EAW88809;EAW88810;NP_001138328;NP_001138329;NP_060643;Q3KR16;XP_005253761;XP_005253762;XP_005253763;XP_006719048 Hs.631660 1671939;1724523;2146586;2165756 G15949;RH122521;RH44631;WI-18755 FLJ10665;MGC126315;MGC126353;MGC126354 MyoGEF;OTTHUMP00000238432;OTTHUMP00000238433;OTTHUMP00000238434;OTTHUMP00000238435;PH domain-containing family G member 6;myosin interacting guanine nucleotide exchange factor;myosin-interacting guanine nucleotide exchange factor;pleckstrin homology domain-containing family G member 6 protein-coding ENSG00000008323 HGNC:25562 07692 611743 VALIDATED 1316273 PLEKHJ1 pleckstrin homology domain containing, family J member 1 INTERACTS WITH copper(2+) sulfate; diazinon; elemental selenium 19 19 19 p13.3 2167332 2170505 - 2233149 2237703 - 2230019 2236676 - 6480464 11602354;12477932;14702039;15761153;17207965;17353931;20098747;21832049;21890473;21900206;24250222 55111 K7EIW9;K7EIZ3;K7ERH2;K7ERW3;Q9NW61 ABBA01002714;AC005263;AK001159;AK092742;AK097723;AK098725;AMYH02035186;AX588219;AX588536;AX876120;BC003084;BC008966;CH471139;CN365243;CN417790;CR457253;CS300641;HY085955;HY101097;NM_001300836;NM_018049;XM_005259591;XM_006722784 AAH03084;AAH08966;ADQ32812;BAA91525;BAG53521;CAD61444;CAD61589;CAE89130;CAG33534;CAK32305;EAW69405;EAW69406;EAW69407;NP_001287765;NP_060519;Q9NW61;XP_005259648;XP_006722847 Hs.501353;Hs.713641 1649945;2141581;5037552 D8S2279;RH12240;WI-11809 FLJ10297;GNRPX 9530063M10Rik;PH domain-containing family J member 1;guanine nucleotide releasing protein x;guanine nucleotide-releasing protein x;pleckstrin homology domain-containing family J member 1 protein-coding ENSG00000104886 HGNC:18211 15150 VALIDATED 1315942 PLEKHM2 pleckstrin homology domain containing, family M (with RUN domain) member 2 ENCODES a protein that exhibits kinesin binding; INVOLVED IN Golgi organization; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2-methylcholine; ethyl methanesulfonate; methyl methanesulfonate 1 1 1 p36.21 14493710 14544281 + 16010632 16061264 + 15684137 15734769 + 737633;6480464;8554872 12477932 10048485;15905402;16169070;19460752 23207 Q5VVD7;Q8IWE5 AB020649;ABBA01004700;ABBA01004701;AL121992;AL137297;AL450998;AL606758;AMYH02000365;AMYH02000366;AMYH02000367;BC008002;BC016488;BC030545;BC040441;BC042103;BC068599;CH471167;NM_015164;XM_005245790;XM_005245791 AAH08002;AAH16488;AAH30545;AAH40441;AAH42103;BAA74865;CAB70684;EAW51745;NP_055979;Q8IWE5;XP_005245847;XP_005245848 Hs.646775 1670072;1740589;1775170;2191271 D1S3097;MARC_16951-16952:1020776560:5;SHGC-74256;SHGC-74261 KIAA0842;RP11-169K16.1;SKIP OTTHUMP00000003094;OTTHUMP00000003095;PH domain-containing family M member 2;SifA (Salmonella-induced filaments A) and kinesin-interacting protein;novel RUN and PH domain-containing protein;pleckstrin homology domain-containing family M member 2;salmonella-induced filaments A and kinesin-interacting protein;sifA and kinesin-interacting protein protein-coding ENSG00000116786 HGNC:29131 609613 VALIDATED 2292191 PLEKHM3 pleckstrin homology domain containing, family M, member 3 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN intracellular signal transduction (inferred); INTERACTS WITH aflatoxin B1; ethyl methanesulfonate; formaldehyde 2 2 2 q33.3 202448087 202652388 - 208686012 208890284 - 207821288 208025560 - 6480464 12477932;14702039;19028694;20379614;21890473;21906983 389072 C9J119;H7C0J9;Q6ZWE6 ABBA01062690;ABBA01062691;ABBA01062692;ABBA01062693;ABBA01062694;ABBA01062695;AC083900;AC093698;AC096772;AF462444;AK057612;AK123204;AMYH02005651;AMYH02005652;AMYH02005653;AMYH02005654;AMYH02005655;AMYH02005656;BC020812;BC042862;BC065842;BC151137;BX538248;BX648983;NM_001080475;XM_005246543;XM_005246544;XM_005246545;XM_006712521 AAH20812;AAI51138;AAI56836;AAP97712;BAC85557;NP_001073944;Q6ZWE6;XP_005246600;XP_005246601;XP_005246602;XP_006712584 Hs.159188;Hs.709906 1334690;1338024;1739285;1766235;2113916;2169273;5020988;5024039;7186763 AB046102;D16S325;D22S958;D2S154;D2S1941E;D2S2208;SHGC-149597;SHGC-57579 DAPR;DKFZp686O04200;FLJ41210;PLEKHM1L OTTHUMP00000206643;OTTHUMP00000206645;PH domain-containing family M member 3;differentiation associated protein;pleckstrin homology domain containing, family M, member 1-like;pleckstrin homology domain-containing family M member 3 protein-coding ENSG00000178385 HGNC:34006 VALIDATED 1318086 PLEKHH1 pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 FOUND IN cytoskeleton (inferred); INTERACTS WITH all-trans-retinoic acid; paracetamol; quercetin 14 14 14 q24.1 48059079 48115320 + 67999916 68056255 + 67533199 67589538 + 1580863;6480464 10574462;12477932;14702039;16344560;22359512 57475 H0YKY5;H0YLU5;H0YMQ6;Q9ULM0 AB033026;ABBA01023708;AI792090;AK123262;AK123305;AK124787;AK293950;AK295896;AK307428;AL132640;AMYH02029401;BC014159;BC146787;BX648137;BX648464;CH471061;DA056171;NM_020715;XM_005267913;XM_005267914;XM_005267915;XM_006720215;XM_006720216;XM_006720217;XM_006720218;XM_006720219;XR_429319 AAH14159;AAI46788;BAA86514;BAG54094;BAG57326;BAG58689;EAW80940;NP_065766;Q9ULM0;XP_005267970;XP_005267971;XP_005267972;XP_006720278;XP_006720279;XP_006720280;XP_006720281;XP_006720282 Hs.594236 1661521;2110661;2145377;5015619;5024761;5037552 D11S3114;D8S2279;G35794;PLEKHH1__5720;RH17629;RH36905 OTTHUMP00000245708;PH domain-containing family H member 1;pleckstrin homology domain-containing family H member 1 protein-coding ENSG00000054690 HGNC:17733 17862 VALIDATED 1604774 PLEKHN1 pleckstrin homology domain containing, family N member 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; dibutyl phthalate (ortholog) 1 1 1 p36.33 1681246 1689796 - 901872 910488 + 966492 975108 + 6480464;8554872 11076863;11230166;12477932;15489336;16381901 84069 J3KSM5;Q494U1 ABBA01016005;AL136730;AL645608;AMYH02000071;BC101386;BC101387;CH471183;NM_001160184;NM_032129;XM_006710944 AAI01387;AAI01388;AAI41659;CAB66664;CAL38723;EAW56299;NP_001153656;NP_115505;Q494U1;XP_006711007 Hs.528691 1699068;1757941 RH103110;SHGC-146903 DKFZp434H2010;MGC120613;MGC120616;RP11-54O7.7 OTTHUMP00000038447;PH domain-containing family N member 1;pleckstrin homology domain-containing family N member 1 protein-coding ENSG00000187583 HGNC:25284 13190 VALIDATED 1601963 PLEKHO2 pleckstrin homology domain containing, family O member 2 INTERACTS WITH benzene; calcitriol; cobalt dichloride 15 15 15 q22.1 42012800 42038917 + 65134082 65160201 + 64841883 64868002 + 6480464 12477932;14702039;19608861;21139048;21347282;21832049;21890473;21906983;23000965;24816145 80301 B3KTW8;Q8TD55 ABBA01038868;ABBA01038869;AC069368;AF217986;AF318373;AF494534;AK096203;AL157457;AMYH02030616;BC008744;CH471082;NM_001195059;NM_025201 AAG17229;AAH08744;AAL55880;AAM18053;BAG53230;EAW77697;EAW77698;EAW77699;EAW77700;NP_001181988;NP_079477;Q8TD55 Hs.709337 1335368;1848981;2125335;2150877 D15S1009;D2S2832;RH11340;WI-19915 DKFZp761K2312;FLJ38884;PLEKHQ1;PP1628;pp9099 OTTHUMP00000164046;OTTHUMP00000220559;PH domain-containing family O member 2;PH domain-containing family Q member 1;PH domain-containing protein;pleckstrin homology domain containing, family Q member 1;pleckstrin homology domain-containing family O member 2;pleckstrin homology domain-containing family Q member 1 protein-coding ENSG00000241839 HGNC:30026 15910 VALIDATED 1606003 PLEKHO1 pleckstrin homology domain containing, family O member 1 FOUND IN cytoplasm (inferred); nucleus (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; 5-fluorouracil; aflatoxin B1 1 1 1 q21.2 123237889 123247544 + 150122170 150131825 + 150149980 150159630 + 6480464 10799509;11076863;12477932;14702039;15254037;15489336;15706351;15761153;15831458;16325375;16381901;16713569;16987810;17197158;17942896;18624398;18641638;20171213;20368287;20484049;20580715;21139048;22878216;23032291;23583459;23995790;24465689;24777252;24816145;8125298 51177 Q53GL0;Q5T4P8;Q5T4P9 ABBA01049323;AC242988;AF073836;AF168676;AF192912;AF217956;AF291105;AK025937;AK125609;AK222921;AK302255;AL358073;BC010149;BC023533;CH471121;NM_016274 AAF13461;AAF89644;AAH10149;AAH23533;AAK28027;AAK71509;AAQ13826;ABM84307;ABM87779;BAD96641;BAG63607;CAI14262;CAI14263;CAI14264;CAL37406;CAL37478;CAL38256;EAW53580;EAW53581;EAW53582;EAW53583;NP_057358;Q53GL0 Hs.438824 1770025;1777011 A005Z14;D1S3340 CKIP-1;JBP;OC120;RP11-458I7.3 2810052M02Rik;C-Jun-binding protein;CK2 interacting protein 1;CK2-interacting protein 1;HQ0024c protein;OTTHUMP00000014480;PH domain-containing family O member 1;casein kinase 2-interacting protein 1;osteoclast maturation-associated gene 120 protein;pleckstrin homology domain-containing family O member 1 protein-coding HGNC:24310 12217 608335 PROVISIONAL 1343359 PLET1 placenta expressed transcript 1 INVOLVED IN negative regulation of cell-matrix adhesion (ortholog); positive regulation of cell migration (ortholog); wound healing, spreading of epidermal cells (ortholog); FOUND IN apical plasma membrane (ortholog); INTERACTS WITH cadmium atom; titanium dioxide (ortholog) 11 11 11 q23.1 109272110 109284574 - 112118876 112131583 - 112248153 112260860 - 6480464 15203209;18195351 349633 Q6UQ28 ABBA01039797;ABBA01039798;ABBA01039799;ABBA01039800;AMYH02025586;AMYH02025587;AP002884;AY364431;AY364432;AY364433;AY364434;AY364435;NM_001145024 AAQ72434;AAQ72435;AAQ72436;AAQ72437;AAQ72438;NP_001138496;Q6UQ28 Hs.632097 1336030;2119260;7186250 D11S1347;SGC31351 C11orf34 OTTHUMP00000235436;placenta-expressed transcript 1 protein APPROVED protein-coding HGNC:30053 611904 PROVISIONAL 1343124 PLGLA plasminogen-like A (pseudogene) ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH cadmium atom 6 2 2 q12.2 161846324 161851448 + 106998570 107007851 + 106382114 106391395 + 6480464;8554872 10092845;1554698;16344560;1986355;9074645 285189 Q15195;Q9UE70 ABBA01073838;AC114755;AMYH02004493;DA634686;M86871;M86872;M86873;NR_003506;U67178 AAA60168;AAB94300;Q15195 Hs.143436;Hs.631263 5126146 D2S2643 PLGLA1;PLGP2;PRGA plasminogen pseudogene 2 APPROVED pseudo ENSG00000240935 HGNC:9074 612212 VALIDATED 1602457 PLEKHH3 pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 INVOLVED IN signal transduction (inferred); FOUND IN extracellular space; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; thapsigargin 17 17 17 q21.2 37475397 37484507 - 40819932 40829048 - 42667914 42677030 - 6480464 12477932;14702039;20467438;21139048;21906983;21963094;21987572;23000965 79990 K7EK04;Q7Z736;X6R3U4 AB208939;ABBA01006414;ABBA01006415;AC067852;AK024672;AK096767;AL137584;AMYH02033433;AMYH02033434;BC016062;BC052978;BM194001;CH471152;HY056649;NM_024927;NR_073573;NR_073574;XM_006722096;XM_006722097;XR_429922;XR_429923 AAH16062;AAH52978;BAB14956;BAD92176;BAG53360;CAB70826;EAW60862;EAW60863;EAW60864;EAW60865;NP_079203;Q7Z736;XP_006722159;XP_006722160 Hs.632251 5014051;5022578 D1S1423;D8S2278 FLJ21019 PH domain-containing family H member 3;pleckstrin homology domain-containing family H member 3 protein-coding ENSG00000068137 HGNC:26105 13381 VALIDATED 1315681 PLGRKT plasminogen receptor, C-terminal lysine transmembrane protein INVOLVED IN chemotaxis (inferred); inflammatory response (inferred); positive regulation of plasminogen activation (inferred); FOUND IN integral component of plasma membrane (inferred); mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; cobalt dichloride 9 9 9 p24.1 5283603 5363499 - 5357966 5438381 - 5357966 5438375 - 737633;6480464 12477932 10931946;14702039;15164053;15489334;16169070;17207965;18029348;19897580;20379614;20877624;21795689;21940822;23251661;8889548 55848 Q9HBL7 AA919015;ABBA01065413;ABBA01065414;AF220050;AF225420;AK027594;AK312736;AL135786;AMYH02019083;AMYH02019084;AX876813;BC008212;BC036853;BM693747;CH471071;NM_018465;XM_005251510;XM_005251512 AAF67643;AAG09722;AAH08212;ADQ32787;BAB55219;BAG35607;CAE89441;EAW58764;EAW58765;EAW58766;NP_060935;Q9HBL7;XP_005251567;XP_005251569 Hs.584242 1655332;1689831;2176395 G17371;RH91251;WI-15157 AD025;C9orf46;FLJ14688;FLJ39176;MDS030;PLG-RKT;Plg-R(KT) 5033414D02Rik;OTTHUMP00000021028;plasminogen receptor (KT);plasminogen receptor with a C-terminal lysine;transmembrane protein C9orf46 APPROVED protein-coding ENSG00000107020 HGNC:23633 12961 VALIDATED 733482 PLIN1 perilipin 1 The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009] 15 15 15 q26 66610375 66625424 - 90207598 90222648 - 89664367 89679417 - 1303992;1581041;1581042;737723;1580863;6480464;8699517;7240710;8554872 11371650;15136565;15961705;15985482 11751901;12453889;12477932;12802495;12917496;14527948;15001633;15078502;15111493;15355432;15489334;15601966;15601970;15770500;16243839;16567422;16585946;16732014;16732015;16786163;16836753;17353663;17927964;18174481;18201980;18243128;18326614;18356850;18393390;18777456;18806092;18812483;19054096;19077438;19299455;19385027;19399648;19638644;19695247;19782423;19797618;19850727;20017959;20032580;20163070;20468064;20495294;20602615;20734064;21193293;21345103;21392418;21757733;22535977;22580060;22730012;23111648;23392103;23517113;23642680;9521880 5346 H0YM16;O60240 AB005293;ABBA01053019;AC013787;AMYH02031026;BC031084;BQ003487;CA427560;CB266260;CB266707;CH471101;NG_029172;NM_001145311;NM_002666;XM_005254934 AAH31084;BAA25420;EAX02061;NP_001138783;NP_002657;O60240;XP_005254991 Hs.103253 FPLD4;PERI;PLIN OTTHUMP00000194689;OTTHUMP00000228582;lipid droplet-associated protein;perilipin-1 2289631;2289635;2289636 BW503_H;BW504_H;BW505_H APPROVED protein-coding ENSG00000166819 HGNC:9076 01364 170290;613877 REVIEWED 1344870 PLEKHS1 pleckstrin homology domain containing, family S member 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; fonofos; parathion 10 10 10 q25.3 109238565 109269575 + 115511213 115542192 + 113751315 113782433 + 737633;6480464;8554872 12477932 16344560;20379614;23251661;8889548 79949 H7BZQ2;Q5SXH7;X6R7B3 ABBA01062989;ABBA01062990;AK027190;AK126354;AK128811;AK292867;AK296132;AL592546;AMYH02023841;AMYH02023842;BC036365;BC037870;BM979821;DB002630;FJ236306;NM_001193434;NM_001193435;NM_024889;NM_182601;XM_005270162;XM_005270163 AAH36365;AAH37870;ACI45238;BAB15687;BAC87618;BAF85556;BAG54312;BAH12264;NP_001180363;NP_001180364;NP_079165;NP_872407;Q5SXH7;XP_005270219;XP_005270220 Hs.228320 1781234 stSG68095 C10orf81;FLJ23537;HEL185;RP11-211N11.2;bA211N11.2 OTTHUMP00000020508;PH domain-containing family S member 1;PH domain-containing protein C10orf81;epididymis luminal protein 185;pleckstrin homology domain-containing family S member 1 APPROVED protein-coding ENSG00000148735 HGNC:26285 12591 VALIDATED 1343043 PLG plasminogen The protein encoded by this gene is a secreted blood zymogen that is activated by proteolysis and converted to plasmin and angiostatin. Plasmin dissolves fibrin in blood clots and is an important protease in many other cellular processes while angiostatin inhibits angiogenesis. Defects in this gene are likely a cause of thrombophilia and ligneous conjunctivitis. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009] 6 6 6 q26 161842077 161894063 + 161123225 161175086 + 160702193 160754054 + 1601405;1580863;1601404;6480464;6484113;6907045;7240710;8699517;8554872 8392398;9242524 10069369;10077593;10215610;10218588;10233898;10512713;10604721;10625689;10656799;10700393;10889192;10928473;10956663;10964919;10974350;10978167;11027681;11100730;11113116;11169399;11257124;11263499;11342539;11350170;11371191;11438139;11729324;11888684;11928826;11939791;12016220;12036889;12054798;12080056;12093796;12189145;12192005;12228252;122932;12406896;12456874;12477932;12604689;12646571;126863;12692411;12697748;12700073;12736244;12871329;12876630;134998;142009;1427790;14574404;146197;14678821;14699093;14719094;14726399;14739127;14739293;14764098;14769799;15090462;15099286;15207811;15211511;15215240;15220341;15299951;15321992;15333838;15489334;15501816;15529749;15609351;15613921;15642732;15677446;15746964;158022;15911629;16043488;16087677;16097950;16229836;16319056;16478887;16480936;16502470;1657148;1657149;16601838;16790522;16828203;17115186;17200769;17203182;17206383;17272502;17379720;17545513;17606760;17616171;17653767;17656680;17890952;17927806;17976375;17978577;18039838;18070889;18160581;18163891;18223261;18279394;18289715;18310038;18329389;18331597;18366077;18392331;18566672;18568768;18624398;18658146;18667578;18685433;18714035;18981180;18983515;19074676;1909331;19158842;19199708;19308255;19363026;1939207;19465692;19574304;19712047;19800007;19801674;19821587;19850343;1986355;19913121;20056908;20095998;20112045;20140262;20143645;20152941;20346360;20346413;20553606;20565259;20617841;20628086;2065054;20655859;20702651;20709033;20726765;21072208;21174000;21236472;21300353;21316746;21464960;21467042;21510941;21543325;2157850;21680799;21755014;21787393;21802507;21832858;21900290;21988832;21998162;22027013;22079981;22124123;22147698;22187433;22197896;22287006;22507544;22518846;22619171;22641690;22677171;22685231;22732096;22773346;22832192;22987920;22996753;23071278;23071827;23103380;23118497;23140098;23150713;2318848;23341464;23449787;23481605;23576799;23583624;23645683;23699598;23702659;23721211;23850366;23853591;23906818;23912396;24029428;24338014;2437112;24449821;24457600;24605649;2522013;2745554;2829380;2962191;2962641;3030813;3334852;3356193;3920216;4226004;4240117;4694729;479158;5475635;6094526;6148961;6216475;6238949;6438154;6582496;659588;6838832;6919539;6980881;7525077;7538844;7548163;7586586;7814888;7982919;8054447;8162705;8181475;8181476;8360181;8460120;8478593;8555184;8611560;8612605;8652577;8843739;8910613;9020112;9054441;9102221;9102401;9201958;9234243;9305949;9337997;9360944;9375744;9428707;9490681;9521645;9548733;9596664;9688635;9737862;9783753;9786936;9834305;9858247 5340 A6PVI2;P00747;Q5TEH5 ABBA01015157;AK298338;AK308036;AK312966;AL109933;AMYH02014887;AY192161;BC060513;BU073846;CH471051;CR749293;DR004070;HI968587;K02921;K02922;M34276;M74220;NG_016200;NM_000301;NM_001168338;X05199 AAA36451;AAA60113;AAA60123;AAA60124;AAH60513;AAN85555;BAG35805;BAG60586;CAA28831;CAH18148;CBY88485;EAW47591;EAW47592;NP_000292;NP_001161810;P00747 Hs.143436 1646582;1673854;1769262;1846614;2116286;2117444;2143643;2152947;2168556;2190377;2217768;5016889;5093492;5113357;7186466 A009P38;D6S2067;D6S2151;EMT_F1R1;G17083;G32750;PLG_3841;RH1524;RH65147;RH69724;RH70350;RH79781;SHGC-33362;SHGC-33485 DKFZp779M0222 OTTHUMP00000017544;OTTHUMP00000017545;OTTHUMP00000197002;plasmin APPROVED protein-coding ENSG00000122194 HGNC:9071 01417 173350;217090 REVIEWED 1606838 PLGLB2 plasminogen-like B2 FOUND IN extracellular region (inferred); INTERACTS WITH cadmium atom; ethyl methanesulfonate; methyl methanesulfonate 6 2 2 p11.2 161842122 161853614 + 88047606 88058995 + 87748087 87759476 + 6480464 10069369;10092845;12477932;1379800;14702039;15489334;1554698;15815621;1986355;19913121;20628086;2714803;8012354;9074645 5342 Q02325 AC093616;AF075095;AI023399;AK124365;AMYH02004234;AMYH02004235;AMYH02004236;BC005379;BC022294;M93143;NM_002665 AAB06491;AAH05379;AAH22294;AAX82025;NP_002656;Q02325 Hs.652169 5015961;5016296;5016889;5022322;5024756;5113357;5123514;5126146 A007F21;A007H01;D11S2560;D15S1477;D2S2643;RH65147;RH79781;RH80030 PLGLB1;PLGP1 OTTHUMP00000160773;OTTHUMP00000203594;plasminogen pseudogene 1;plasminogen-like protein B;plasminogen-related protein B;type B plasminogen related protein-coding HGNC:9073 01416 VALIDATED 1606837 PLGLB1 plasminogen-like B1 FOUND IN extracellular region (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; mercury atom 6 2 2 p11.2 161842126 161853614 + 87237587 87248969 - 87010464 87021846 - 6480464 12477932;1379800;15489334;1554698;15815621;1986355;19913121;20628086;2714803 5343 F8WCD6;Q02325 AC111200;AC125232;AMYH02004216;BC070296;BC107767;BC109248;M86874;M86875;M86876;NM_001032392 AAA60169;AAI09249;AAY24020;AAY24028;NP_001027564;Q02325 Hs.652169;Hs.652174 5015961;5016889;5022322;5024756;5113357;5123514;5126146 A007H01;D11S2560;D15S1477;D2S2643;RH65147;RH79781;RH80030 PLGL;PLGP1;PRGB;PRP-B OTTHUMP00000203509;OTTHUMP00000203510;OTTHUMP00000203511;OTTHUMP00000203512;plasminogen-like protein B;plasminogen-related protein B;type B plasminogen related protein-coding HGNC:9072 173340 VALIDATED 1343845 PLIN3 perilipin 3 Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009] 19 19 19 p13.3 4776278 4805688 - 4838346 4867780 - 4838334 4867768 - 1580863;6480464 10393528;10829017;10908666;11313361;11359012;12032303;12077142;12477932;12535272;12631276;12697764;12768012;12938929;14702039;14741744;15231748;15456905;15489334;15545278;15782153;16169070;16344560;16741517;16769818;16808905;17003132;18029348;18393390;18557900;18781797;18832575;19286631;19307600;19400954;19451273;19490898;19638644;19946888;20012524;20070608;20556887;21139048;21762802;21832049;21890473;21906983;21988832;22118674;22363329;22667335;22863883;22939629;23000965;23077317;23325685;23348195;23354285;23593007;23705972;23890011;23936516;24480419;24654937;6856484;8125298;9590177;9874244 10226 K7EJD0;K7EL96;K7ER39;K7ERZ3;O60664 ABBA01056037;ABBA01056038;ABBA01056039;AC027319;AF051314;AF051315;AF055574;AF057140;AK122671;AK223054;AK225045;AK225400;AK226088;AK291104;AK312740;AMYH02035305;AMYH02035306;BC001590;BC005818;BC007566;BC019278;BF222684;BF683925;BG339642;BQ057849;BQ063091;BQ276395;BT007235;CH471139;DB127412;DB248921;NG_028080;NM_001164189;NM_001164194;NM_005817 AAC39751;AAD11619;AAD11620;AAD11622;AAH01590;AAH05818;AAH07566;AAH19278;AAP35899;ABM83550;ABM86790;BAD96774;BAF83793;EAW69192;NP_001157661;NP_001157666;NP_005808;O60664 Hs.140452 2108221;2146438;2153388;5015619 D11S3114;M6PRBP1_9066;RH45134;SHGC-64930 M6PRBP1;MGC11117;MGC2012;PP17;TIP47 47 kDa MPR-binding protein;47 kDa mannose 6-phosphate receptor-binding protein;MPR-binding protein 47 kDa;cargo selection protein (mannose 6 phosphate receptor binding protein);cargo selection protein TIP47;mannose-6-phosphate receptor binding protein 1;mannose-6-phosphate receptor-binding protein 1;perilipin-3;placental protein 17;tail-interacting protein, 47 kD APPROVED protein-coding ENSG00000105355 HGNC:16893 04080 602702 REVIEWED 730882 PLIN2 perilipin 2 The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011] 9 9 9 p22.1 19041952 19053704 - 19115759 19127604 - 19108388 19127606 - 1625752;1580863;6480464;6484113;7247722 17484887;19223006 12114189;12387890;12477932;12591929;14671211;14707038;14741744;15136565;15146197;1518805;15336557;15489334;15545278;16230742;16391323;16489205;16808905;16884492;16936283;17200350;17322100;17446422;17620659;17927964;18188946;18393390;18606814;18624398;18827892;18832575;19054096;19169702;19351497;19460752;19602560;19638644;19843633;19851831;20032580;20118912;20143336;20504295;20661576;20887090;21566511;21828233;21906983;22238364;22496505;22667335;22949030;22952953;23129790;23603836;23688400;23931576;24405744;7829101;9003395;9799447 123 Q5SYF3;Q5SYF4;Q5SYF5;Q6FHZ7;Q99541 ABBA01065216;AF443203;AK296125;AK297920;AK312983;AL591206;AMYH02019258;AMYH02019259;BC005127;BE311586;BI494696;CH471071;CN277218;CR536541;NM_001122;NR_038064;X97324;XM_006716719 AAH05127;AAL35614;ABM83903;ABM87224;BAG35820;BAG58871;BAG60238;CAA65989;CAG38778;EAW58648;EAW58649;EAW58650;EAW58651;NP_001113;Q99541;XP_006716782 Hs.3416 1797270;2152659 ADFP_2401;STS-W55904 ADFP;ADRP;MGC10598 OTTHUMP00000021107;adipophilin;adipose differentiation-related protein;perilipin-2 APPROVED protein-coding ENSG00000147872 HGNC:248 00057 103195 REVIEWED 2302687 PLK5 polo-like kinase 5 ENCODES a protein that exhibits ATP binding (inferred); protein kinase activity (inferred); INVOLVED IN cellular response to growth factor stimulus; defense response to tumor cell; positive regulation of neuron projection development; FOUND IN cytoplasm; INTERACTS WITH aflatoxin B1 (ortholog); C60 fullerene (ortholog); pirinixic acid (ortholog) 19 19 19 p13.3 1458103 1469377 + 1524073 1535455 + 1524074 1535456 + 6480464 10737800;12477932;14702039;15489334;16344560;20100802;20210993;21245385 126520 K7EL33;Q496M5 ABBA01002653;ABBA01002654;AC027307;AI651075;AK054808;AK122648;AMYH02035153;AMYH02035154;BC100791;BC100792;BC100793;BF364682;DA058511;DQ424898;NM_001243079 ABD83663;BAG51426;BAG53640;NP_001230008;Q496M5 Hs.195352 1764307;1777820;1788426 RH78029;SHGC-147922;fc09g10.x1 MGC118807;MGC118808;PLK-5;PLK5P;SgK384ps inactive serine/threonine-protein kinase PLK5;polo-like kinase 5, pseudogene APPROVED protein-coding ENSG00000185988 HGNC:27001 VALIDATED 1347657 PLIN4 perilipin 4 Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010] 19 19 19 p13.3 4440384 4456502 - 4502192 4518529 - 4502180 4518521 - 6480464;8554872 11572484;12477932;12840023;19638644;20495294;21533135;21906983;21988832;22210160;22667335 729359 Q96Q06 AB067468;ABBA01056064;ABBA01056065;AC011498;AK295236;AMYH02035290;AMYH02035291;BC153818;NM_001080400;XM_005259640;XM_006722866;XM_006722867;XM_006722868;XM_006722869;XM_006722870 AAI53819;BAB67774;BAG58229;NP_001073869;Q96Q06;XP_005259697;XP_006722929;XP_006722930;XP_006722931;XP_006722932;XP_006722933 Hs.591387 1686951;1691030 RH80135;RH91513 KIAA1881;S3-12 OTTHUMP00000236186;adipocyte protein S3-12;perilipin-4 APPROVED protein-coding ENSG00000167676 HGNC:29393 613247 PROVISIONAL 2881444 PLIN5 perilipin 5 Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010] 19 19 19 p13.3 4461329 4473994 - 4522543 4535208 - 4522531 4535196 - 6480464;8554872 12477932;17234449;19602560;19638644;21393244;21632259;22127648;22667335;23129790 440503 K7EIX1;K7ELW7;Q00G26 ABBA01056062;ABBA01056063;AC011498;AMYH02035291;AMYH02035292;AW445065;BC033570;BC131524;BX105717;DQ839131;NM_001013706 AAI31525;ABH07519;NP_001013728;Q00G26 Hs.131034 1680495;1682449;2129426;5126915 RH41861;RH48973;RH80514;RH91548 LSDA5;LSDP5;MLDP OXPAT;lipid storage droplet protein 5;perilipin-5 APPROVED protein-coding ENSG00000214456 HGNC:33196 613248 VALIDATED 736785 PLLP plasmolipin INVOLVED IN ion transport (inferred); myelination (inferred); response to wounding (inferred); ASSOCIATED WITH Schizophrenia; FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 16 16 16 q13 41789697 41818338 - 57290009 57318584 - 57256097 57284672 - 1358792;1580863;6480464 15334603 11707781;12477932;15489334;16344560;17207965;21988832;23728906;7929173 51090 H3BN27;J3QLJ3;Q9Y342 ABBA01025266;ABBA01025267;AC009090;AC108081;AF137386;AK130584;AK289599;AK313910;AMYH02032101;BC002760;CH471092;DA366260;NM_015993 AAD33060;AAH02760;ADQ32856;BAF82288;BAG36633;EAW82915;EAW82916;EAW82917;NP_057077;Q9Y342 Hs.632215 1648030;1675899;1739887 D16S3008;G06198;RH91141 PMLP;TM4SF11 OTTHUMP00000164670;plasma membrane proteolipid (plasmolipin);transmembrane 4 superfamily member 11 (plasmolipin) APPROVED protein-coding ENSG00000102934 HGNC:18553 11854 600340 VALIDATED 1349244 PLN phospholamban The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure. [provided by RefSeq, Jul 2008] 6 6 6 q22.1 119612768 119624905 + 118869442 118881587 + 118548279 118560424 + 1580215;1580863;6480464;6907045;7240710;7240708;7327183;7327185;7327186;7327181;7327176;7327182;7327178;7327179;7327207;8554872;8699517 16432188;21934351;22185592;22252398;22621761;22947202;22970977;23091085;23443767;23458196;23781262 10096878;10198197;10551848;10809745;11526231;11854448;12032137;12080135;12477932;12480535;12525698;12610310;12639993;12692302;12705874;12804600;14530977;15342556;15489334;15598648;15640069;15736939;16043693;16235537;16382369;16476846;16829191;17009399;17010801;17515962;17655857;17766390;17905829;18192322;18241046;1828805;18708665;19139388;19305408;19305409;19324307;19584346;19587794;19638213;19671701;19708671;19875404;20301486;20301725;20474083;20634894;20639392;21108950;21167350;21282613;21332051;21576492;21687864;21988832;22137083;22155237;22172806;22247554;22427649;22820313;23166209;23308118;23349452;23871674;24037902;24358354;24722188;3759968;7586307;7749920;7779806;8406504;8862513;9345259;9468536;9512019;9845327 5350 P26678;Q5R352 ABBA01026028;AF177764;AK311799;AMYH02014370;BC005269;BP259965;CH471051;M60411;M63603;NG_009082;NG_021248;NM_002667;Z99496 AAA60083;AAA60109;AAD55950;AAH05269;ABM83960;ABM87145;BAG34742;EAW48198;NP_002658;P26678 Hs.170839 1696386;1735598;1753485;1777872;2164696;5122563 D12S1940;D6S1145E;D6S1147E;RH44514;SHGC-107437;SHGC-77838 CMD1P;CMH18;PLB OTTHUMP00000017092;cardiac phospholamban APPROVED protein-coding ENSG00000198523 HGNC:9080 01395 172405;609909;613874 REVIEWED 1353726 PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 11108411 11149258 + 11994724 12035599 + 11934667 11975542 + 1599090;2314536;6480464;6907045;7240710;8554872 11714250;15817667 10686424;10748089;1148262;1184396;11956192;12452796;12477932;1335016;1345174;14565595;15174142;15489334;1577494;15854030;15979919;16009940;16344560;16710414;16758144;17170699;17390085;18781797;19056867;19442614;194639;20000738;20301635;20360068;20628624;20811636;21139048;21145461;21252943;21527992;21987572;22001912;22174317;22190034;22268729;22586326;22863883;22939629;23022198;23234877;24255178;24654937;5027136;6229534;7713497;798297;8163671;8449506;8621606;9617436;9738467 5351 Q02809;Q5JXB7;Q5JXB8;Q5JXB9 ABBA01003063;ABBA01003064;ABBA01003065;ABBA01003066;AF081786;AF490527;AK124035;AK294688;AK295254;AK299150;AK312243;AK316285;AL096840;AMYH02000303;AMYH02000304;AU139472;BC016657;BQ447373;CH471130;DC334246;M98252;NG_008159;NM_000302 AAD52693;AAH16657;AAM12752;BAG35176;BAG57849;BAG58243;BAG61199;BAH14656;EAW71724;EAW71725;NP_000293;Q02809 Hs.75093 1744673;2118499;2141898;2149848;2191555;2219512;5020881;5024413;5491928 G16245;GDB:549202;L17709;L17877;MARC_26192-26193:1030722241:1;MARC_65458-65459:1186500885:3;PLOD__5723;RH11431;SHGC-30062 EDS6;FLJ42041;LH;LH1;LLH;PLOD OTTHUMP00000002512;lysine hydroxylase;lysyl hydroxlase 1;procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1;procollagen-lysine, 2-oxoglutarate 5-dioxygenase;procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 APPROVED protein-coding ENSG00000083444 HGNC:9081 01086 153454;225400 REVIEWED 1313392 PLK4 polo-like kinase 4 This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 4 4 4 q28 126180969 126199332 + 128802016 128820379 + 127880861 127899224 + 1580863;6480464 10607900;11076968;11489907;11597015;12221128;12477932;12852856;15342556;15489334;15761153;15967108;16189514;16244668;16326102;16462731;17681131;18239451;19001868;19454482;19679553;20032307;20348415;20508983;20516151;20923822;21059844;21059850;21139048;21297952;21590086;21609466;21725316;21900206;21988832;22349698;22456511;22829937;23019411;23249732;23641073;23653187;23821772;23974100;24250222;24277814;24389189;24997597;7790358;8274451 10733 H0YAL6;J3KR82;J3KR84;O00444 AB006972;AB741646;ABBA01044795;AC107053;AI088969;AK302858;AK303399;AK314238;AMYH02010070;AMYH02010071;AMYH02010072;BC036023;BP328161;BU633758;CH471056;DC402409;NM_001190799;NM_001190801;NM_014264;XM_005262701;XM_006714071;Y13115;Z25433 AAH36023;ABM85115;BAB69958;BAG36907;BAH13823;BAH13953;BAP74121;CAA73575;CAA80920;EAX05196;NP_001177728;NP_001177730;NP_055079;O00444;XP_005262758;XP_006714134 Hs.172052 1665159;2169554 HSCZYB062;SHGC-50513 PLK-4;SAK;STK18 OTTHUMP00000164423;OTTHUMP00000219883;OTTHUMP00000219884;OTTHUMP00000219885;OTTHUMP00000219886;Snk akin kinase;serine/threonine kinase 18;serine/threonine protein kinase SAK;serine/threonine-protein kinase 18;serine/threonine-protein kinase PLK4;serine/threonine-protein kinase Sak APPROVED protein-coding ENSG00000142731 HGNC:11397 10387 605031 REVIEWED 1348089 PLK2 polo-like kinase 2 The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 5 5 5 q12.1-q13.2 54688300 54694404 - 57749809 57755966 - 58453982 58460139 - 1580863;6480464;8554872 10523297;10557092;11039900;11696980;11716500;12477932;12651910;12761501;12897130;12972611;14702039;15242618;15489334;16169070;16203730;16344560;17671831;17706602;17912033;19001868;19004816;19506885;19597481;19706541;19834535;19889641;19953087;20054236;20056645;20352051;20360068;20508983;20531387;21067440;21340720;21402713;21832049;21906983;21963094;21988832;22100274;22134238;22138223;22248692;22289679;22399798;22828320;22988096;23466428;23677647;23703673;24338472;8889549 10769 Q9NYY3 AA469989;AA954432;ABBA01015787;AC008814;AF059617;AF223574;AI655395;AK027851;AK098163;AK297298;AK312505;AMYH02011350;BC013879;BF437296;BI559351;CH471123;DA020501;FB665825;FB750136;N66865;NM_001252226;NM_006622;U85755 AAC14573;AAD00575;AAF62897;AAH13879;ABM84579;ABM86756;BAC05247;BAG59766;CAS92534;CAT02199;EAW54972;EAW54973;NP_001239155;NP_006613;Q9NYY3 Hs.398157 1665550;1772058;5095022 HSC1XG062;IB1671;PLK2 PLK-2;SNK;hPlk2;hSNK OTTHUMP00000122549;serine/threonine-protein kinase PLK2;serine/threonine-protein kinase SNK;serum-inducible kinase APPROVED protein-coding ENSG00000145632 HGNC:19699 06118 607023 REVIEWED 1350781 PLK3 polo-like kinase 3 Cytokine-inducible kinase is a putative serine/threonine kinase. CNK contains both a catalytic domain and a putative regulatory domain. It may play a role in regulation of cell cycle progression and tumorigenesis. [provided by RefSeq, Jul 2008] 1 1 1 p34.1 43548916 43554547 + 45265638 45271667 + 44799961 44805995 + 1580863;2299942;2299941;6480464;6907045 14970859;15785925 10523297;10557092;10673501;10679924;10973490;11039900;11333986;11447225;11551930;11709713;11901158;11931760;11971976;12242661;12477932;12493754;12548019;14968113;14980500;15021912;15190214;15489334;15671037;16189514;16388739;16478733;16481012;16955485;17264206;17804415;18062778;18482256;18650425;19103756;19490146;19556223;19597481;19889641;20473878;20508983;20889502;20940307;20951827;21098032;21840391;22549466;22828320;8702627;9278512;9353331 1263 Q59ED6;Q9H4B4 AA421212;AB209875;ABBA01050908;AJ293866;AL592166;AMYH02000919;AY764184;BC004135;BC004198;BC013899;BC013960;CH471059;NM_004073;U56998;XR_246234 AAC50637;AAH13899;AAU88146;ACE87038;ACE87722;BAD93112;CAC10659;EAX07021;NP_004064;Q9H4B4 Hs.632415 1665001;1780204;2107943;2161173 AL009769;CNK_2805;SHGC-154623;SHGC-74733 CNK;FNK;PLK-3;PRK FGF-inducible kinase;OTTHUMP00000010159;cytokine-inducible kinase;cytokine-inducible serine/threonine-protein kinase;proliferation-related kinase;serine/threonine-protein kinase PLK3 APPROVED protein-coding ENSG00000173846 HGNC:2154 04222 602913 VALIDATED 1346467 PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008] 7 7 7 q22 95858417 95870169 - 100849258 100861011 - 101205977 101217730 - 1580863;2314536;6480464;6907045;7240710;8554872;8699517 15817667 10686427;10934207;11334715;11956192;12475640;12477932;12853948;15489334;16009940;16189514;16303743;16447251;17314511;17643375;18187620;18298658;18781797;18834968;19056867;19156129;20562859;20955792;21139048;21145461;21465473;21693764;21906983;21942715;21963094;21987572;22268729;22939629;24250222;9582318;9724729 8985 C9JIX5;C9JU11;H7C0B8;H7C2A8;H7C2S8;H7C2V1;O60568;Q9UG85 ABBA01011341;ABBA01011342;ABBA01011343;AC004876;AF046889;AF068229;AF207069;AK075338;AK297559;AK298537;AK312743;AL049952;AMYH02016403;AY220458;BC011674;BC018946;BF941815;CH471197;JC258727;JC303366;NG_012148;NM_001084 AAC34808;AAC39753;AAD45831;AAF63701;AAH11674;AAO61775;BAG35613;BAG52115;BAG59952;BAG60737;CAB43221;CDM55391;CDM55572;EAW50205;NP_001075;O60568 Hs.153357 1770674;2109675;2165896 A002S06;PLOD3_8880;WI-8602 LH3 OTTHUMP00000211487;lysine hydroxylase 3;lysyl hydroxlase 3;lysyl hydroxylase 3;procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 APPROVED protein-coding ENSG00000106397 HGNC:9083 04347 603066;612394 REVIEWED 1353801 PLK1 polo-like kinase 1 ENCODES a protein that exhibits anaphase-promoting complex binding; microtubule binding; protein kinase activity; INVOLVED IN activation of mitotic anaphase-promoting complex activity; centrosome organization; establishment of protein localization; PARTICIPATES IN cell cycle pathway, mitotic; ASSOCIATED WITH Breast Neoplasms; Endometriosis; Ovarian Neoplasms; FOUND IN centrosome; condensed nuclear chromosome outer kinetochore; cytoplasm; INTERACTS WITH 17beta-estradiol; 2,3-dimethoxynaphthalene-1,4-dione; 5-fluorouracil 16 16 16 p12.2 22468373 22479857 + 23690201 23701688 + 23678880 23690367 + 1580863;2299937;2299940;2299939;2299941;2299938;2299942;6480464;6907045;8554872 14970859;15761500;15785925;15948124;16837776;18353325 10037602;10191277;10793135;10973490;11076968;11111111;11127806;11194558;11202906;11205743;11242082;11256614;11283617;11447294;11807090;11854496;11897663;11901158;11931760;12024051;12034729;12077309;12082631;12147700;12167714;12207013;12221128;12242661;12364337;12429910;12442251;12447691;12477932;12493754;12524548;12592388;12595692;12639966;12708489;12732729;12738781;12815053;12852856;12852857;12939256;14532005;14592974;14647413;14654792;14734534;14735186;15015605;15024021;15070733;15105433;15125835;15141022;15148369;15176053;15190079;15199097;15210710;15280449;15350223;15458642;15469984;15489334;15611664;15616186;15654075;15661742;15661849;15664519;15678101;15713655;15737063;15766665;15855824;15876876;15923617;16118204;16127294;16157594;16169070;16198290;16237758;16247472;16254247;16260496;16267267;16339216;16378098;16439210;16462731;16469711;16478733;16481748;16582488;16630118;16648550;16753148;16760428;16860740;16865274;16873548;16885021;16885022;16927022;16930555;16934469;16966375;16980960;17005603;17081991;17102638;17121839;17121863;17146433;17218258;17253180;17265445;17310276;17314511;17351640;17351902;17359284;17360533;17376779;17434144;17446864;17461553;17476331;17488623;17495026;17610829;17617734;17623655;17635521;17671160;17943598;18056432;18062778;18171681;18174154;18195732;18250300;18278450;18297112;18298087;18298903;18329369;18331714;18378770;18391401;18418051;18427546;18445273;18477460;18521620;18547964;18560274;18566290;18615013;18616938;18625707;18662541;18676680;18694934;18695677;18773538;18794143;18820703;18854154;18922800;18950845;18957422;18980975;19001871;19004025;19033445;19152411;19160488;19170196;19177004;19289504;19351716;19386263;19400994;19452252;19454010;19458358;19468300;19468302;19473992;19487276;19503101;19509060;19543530;19546225;19554017;19572149;19596235;19597481;19615732;19625176;19631697;19668228;19690138;19692168;19706541;19725153;19738611;19739117;19758559;19775446;19804365;19821153;19822658;19833129;19855194;19889641;19953087;20089605;20103597;20126263;20130082;20145140;20146883;20170163;20198330;20360068;20404504;20427271;20470222;20484576;20508983;20511645;20534861;20562859;20573420;20577264;20581060;20581453;20615875;20622363;20624918;20656208;20664522;20679239;20819778;20823832;20860994;20869364;20890306;20937827;20962589;21041660;21051833;21078677;21079244;21139048;21145461;21148584;21169242;21170987;21184800;21242189;21253604;21271384;21330050;21399492;21436619;21454580;21474997;21480320;21507953;21519187;21522128;21533207;21576470;21602893;21610149;21635870;21636267;21640712;21642957;21690413;21723128;21726628;21750699;21768102;21813642;21816470;21818122;21832049;21857030;21857149;21880710;21887822;21890473;21890624;21900206;21906983;21947279;21953073;21962513;21963094;21978935;21987589;21988832;22000864;22064247;22108192;22115795;22120675;22154349;22184120;22184200;22188812;22192978;22249248;22262171;22268729;22281053;22309939;22314839;22325354;22365832;22390279;22391203;22405092;22427657;22467873;22505724;22535524;22566210;22593191;22609948;22621898;22641346;22648245;22701722;22753241;22753416;22795848;22818914;22820163;22826617;22863584;22869522;22890325;22892842;22902628;22908307;22918237;22939629;22948661;22972498;23000965;23027877;23037713;23045552;23046929;23047923;23063527;23079597;23105120;23144294;23151088;23160376;23188630;23345402;23359173;23383273;23455152;23455478;23494182;23509069;23520509;23525475;23566315;23574746;23615397;23643811;23661607;23670162;23695676;23713868;23750008;23753023;23757039;23770244;23790466;23792639;23804033;23887393;23972993;23983103;24032677;24067368;24067371;24076372;24196446;24204733;24205328;24255178;24271645;24327015;24338364;24349352;24407240;24447338;24451569;24482237;24519995;24785407;24797263;24816145;7478607;7790358;7902533;7962193;8018557;8127874;8524282;8991084;9083047;9154840;9177283;9499405 5347 I3L2H5;I3L309;I3L387;P53350 AB084459;AB209179;ABBA01017072;AC008870;AK303263;AK308276;AK313227;AMYH02031704;BC002369;BC003002;BC014846;CH471145;FB665815;FB750126;L19559;NM_005030;U01038;U78073;X73458;X75932;X90725 AAA36659;AAA56634;AAB36946;AAH02369;AAH03002;AAH14846;ABM81971;ABM85150;BAD92416;BAD93352;BAG36038;BAG64345;CAA51837;CAA53536;CAA62260;CAS92530;CAT02195;EAW55803;EAW55804;EAW55805;EAW55806;NP_005021;P53350 Hs.592049 1771354;2109673;5112369 G06491;PLK1_8546;RH104431 PLK;PLK-1;STPK13 OTTHUMP00000122462;cell cycle regulated protein kinase;polo (Drosophia)-like kinase;polo like kinase;serine/threonine-protein kinase 13;serine/threonine-protein kinase PLK1 APPROVED protein-coding ENSG00000166851 HGNC:9077 03652 602098 PROVISIONAL 6481409 PLS1-AS1 PLS1 antisense RNA 1 100873943 AC072028 APPROVED ncrna HGNC:40451 1316159 PLS1 plastin 1 Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010] 3 3 3 q23 140738741 140856000 + 142315229 142432506 + 142596387 142713664 + 1580863;6480464;8547669;8554872 20624897 12119179;12477932;15342556;16009940;16196087;16344560;19056867;2111166;21139048;21490949;21906983;22190034;22505724;22863883;24250222;24324551;24816145;25015289;3211125;7655078;8139549;8336074;8428952;8889548 5357 C9J0F3;C9J359;C9JAM3;C9JAM8;C9JU08;C9JVY2;C9JYI1;Q14651 AA933088;ABBA01059022;ABBA01059023;AC072028;AC134509;AK290316;AMYH02007822;AMYH02007823;BC031083;BM263745;BP262012;CB240816;CH471052;DA427212;KF457686;L20826;NM_001145319;NM_001172312;NM_002670;XM_006713660;XM_006713661;XM_006713662 AAA19869;AAH31083;ABW03907;BAF83005;EAW78965;EAW78966;EAW78967;NP_001138791;NP_001165783;NP_002661;Q14651;XP_006713723;XP_006713724;XP_006713725 Hs.203637 1712635;2115605 RH120168;SHGC-12872 I plastin;OTTHUMP00000214728;OTTHUMP00000214729;OTTHUMP00000214730;fimbrin;intestine specific plastin;intestine-specific plastin;plastin-1 APPROVED protein-coding ENSG00000120756 HGNC:9090 04110 602734 REVIEWED 1606836 PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 3 q24 144204566 144296620 - 145787225 145879282 - 146069439 146161495 - 2314536;6480464;6907045;7240710;8554872;8699517 15817667 10372558;10701773;10748089;11334715;11956192;12477932;12881513;15174142;15489334;15523624;15523625;15589118;15694128;15955452;16934803;17353931;17643375;18854154;19110540;19199708;19762917;19913121;20131247;20360068;20628086;20628624;20811636;21139048;21890473;21942715;22098155;22190034;22268729;22689593;22863883;23097496;23246001;23251661;23423382;23666869;23906982;24192939;25036637;8889548;9054364;9271685 5352 B3KWS3;C9JXZ0;E7ETU9;F8WEW3;O00469 AB209879;ABBA01058988;AC092982;AC107021;AF085277;AK125700;AK130098;AK295084;AL832238;AMYH02007854;AY026757;BC016834;BC037169;BM724669;BX537521;CH471052;NG_009251;NM_000935;NM_182943;U84573;XM_005247535;XM_005247536 AAB58363;AAD40977;AAH16834;AAH37169;AAK20119;BAD93116;BAG54235;BAG58125;EAW78939;EAW78940;EAW78941;NP_000926;NP_891988;O00469;XP_005247592;XP_005247593 Hs.477866 1643832;1645127;1671804;1848688;2132280 D3S3410;G16641;G29915;RH78870;STS-N98463 LH2;TLH OTTHUMP00000215204;OTTHUMP00000215205;OTTHUMP00000215206;lysine hydroxylase 2;lysyl hydroxlase 2;lysyl hydroxylase 2;procollagen-lysine,2-oxoglutarate 5-dioxygenase 2;telopeptide lysyl hydroxylase APPROVED protein-coding ENSG00000152952 HGNC:9082 03519 601865;609220 REVIEWED 1349250 PLP2 proteolipid protein 2 (colonic epithelium-enriched) This gene encodes an integral membrane protein that localizes to the endoplasmic reticulum in colonic epithelial cells. The encoded protein can multimerize and may function as an ion channel. A polymorphism in the promoter of this gene may be linked to an increased risk of X-linked mental retardation. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Jan 2010] X X X p11.23 52632900 52636185 - 49028184 49031469 + 49171837 49175120 + 1580863;6480464 12477932;12529377;15474493;15489334;15862967;16169070;16344560;17416750;18781797;21103663;21139048;22810585;22939629;23142642;24278019;7622043;8470895;9124532;9344658 5355 Q04941 ABBA01046131;AC232271;AF196779;AMYH02039323;BC109066;CH471224;DB220888;L09604;NG_016420;NM_002668;U93305 AAA35499;AAB92356;AAI09067;EAW50689;EAW50690;NP_002659;Q04941 Hs.77422 1647517;5015861;5091249 D10S16;DXS9735;STS-L09604 A4;A4-LSB;A4LSB;MGC126187 A4 differentiation-dependent protein;OTTHUMP00000023277;differentiation-dependent protein A4;intestinal membrane A4 protein;proteolipid protein 2 APPROVED protein-coding ENSG00000102007 HGNC:9087 02121 300112 REVIEWED 1353834 PLSCR2 phospholipid scramblase 2 This gene encodes a member of the phospholipid scramblase family. Phospholipid scramblases are membrane proteins that mediate calcium-dependent, non-specific movement of plasma membrane phospholipids and phosphatidylserine exposure. The encoded protein contains a low affinity calcium binding motif and may play a role in blood coagulation and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 3 3 3 q24 144568109 144630745 - 146109150 146213778 - 146433288 146495991 - 1580863;6480464 10930526;12477932;15489334;19540310;21988832;24648509 57047 C9J636;F8WEZ1;Q9NRY7 AA813518;ABBA01058981;AC069528;AF159441;AK301909;AMYH02007856;BC055415;BC069785;BC120969;BC141969;BU852276;CH471052;HC007222;HC044717;NM_001199978;NM_001199979;NM_020359;XM_006713712 AAF91082;AAH55415;AAH69785;AAI20970;AAI41970;BAG63335;CBH19416;CBH30688;EAW78931;EAW78932;NP_001186907;NP_001186908;NP_065092;Q9NRY7;XP_006713775 Hs.744414 1654797 SHGC-10884 OTTHUMP00000215257;OTTHUMP00000215258;OTTHUMP00000215259;PL scramblase 2;ca(2+)-dependent phospholipid scramblase 2 APPROVED protein-coding ENSG00000163746 HGNC:16494 09621 607610 REVIEWED 732304 PLP1 proteolipid protein 1 This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene. [provided by RefSeq, Jul 2008] X X X q22 103470449 103486558 + 103031439 103047548 + 103776511 103792619 + 1358559;1358783;1358781;1358782;6480464;7240710;8554872;8699517 10425042;14572140;2479544;434110 10203813;10319897;10417279;10520936;10767322;11093273;11872612;12107410;12196561;12237860;12297985;12325077;12477932;12491939;12601703;12805210;1376966;1384324;14702039;15009677;15450775;15489334;15627202;15694262;15712223;15753308;15772651;15837131;16130097;16287154;16374829;16380909;16416265;16774974;1707231;1708672;1711121;1715570;17171701;17420921;17438221;17500595;17962415;18190592;18437021;18470932;18555697;18604471;19024090;19151366;19244236;19328639;19376225;19396823;19562355;19825935;19955111;20036320;20186781;20301334;20301361;20301682;20437587;20629189;20885931;21082496;21127064;21177054;21573057;21623770;21679407;22343157;22511562;22695888;22750001;22902553;23142642;23344956;24019930;24103481;2441695;2449536;24501781;24519770;2467009;2479017;2480601;24857611;2773936;3457761;3467339;3768366;3840606;4041237;6083474;6201756;7522741;7531827;7539213;7541731;7573159;7679906;7683951;7684886;7684945;8012387;8696336;8765335;8780101;8909455;8956049;9008538;9143933;9247276;9489796;9633722;9728768;9747038;9788732;9858696;9894878;9934976 5354 A8K9L3;B1B1G1;B1B1G2;B1B1G3;B1B1G4;B1B1G6;B4DI30;P60201 ABBA01032865;ABBA01032866;ABBA01032867;AI205189;AJ006976;AK128782;AK292728;AK295374;AK295388;AK308966;AK309239;AK312340;AMYH02040172;AV731932;BC002665;BC095452;BQ717999;BQ723748;BT019601;BT019602;BX445448;CA389667;CH471190;CR536542;D13320;DC342996;EB387051;KF510145;KF510147;KF510609;M15032;M17085;M27110;M54927;NG_008863;NM_000533;NM_001128834;NM_199478;S55837;S62086;Z73964 AAA59565;AAA60117;AAA60118;AAA60350;AAB26927;AAD13880;AAH02665;AAH95452;AAV38408;AAV38409;BAA02577;BAF85417;BAG35261;BAG58333;BAG58342;CAA07364;CAG38779;EAW54690;EAW54691;EAW54692;EAW54693;EAW54694;NP_000524;NP_001122306;NP_955772;P60201 Hs.1787 1702988;1705614;1742291;1743685;1794320;1796530;2118844;2130865;2155722;2220280;5022004;5107467 D4Ulb4;DXS8149;DXS9790;GDB:192494;GDB:195175;GDB:370833;MARC_4943-4944:991939012:3;PHKA2;PLP1_1059;PMC311008P1;SHGC-63459;SHGC-83004 GPM6C;HLD1;MMPL;PLP;PLP/DM20;PMD;SPG2 OTTHUMP00000023761;OTTHUMP00000023762;lipophilin;major myelin proteolipid protein;myelin proteolipid protein;proteolipid protein;proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) APPROVED protein-coding ENSG00000123560 HGNC:9086 02321 300401;312080;312920 REVIEWED 1350472 PLSCR1 phospholipid scramblase 1 ENCODES a protein that exhibits calcium ion binding; CD4 receptor binding; enzyme binding; INVOLVED IN apoptotic process; defense response to virus; negative regulation of viral genome replication; FOUND IN cytosol; extracellular matrix; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 3 3 3 q23 144649990 144679651 - 146232967 146262628 - 146515180 146544841 - 1580863;6480464 10753839;10770950;10869562;10930526;11390389;11809687;12009895;12010804;12023963;12031648;12477932;12564925;12586838;12605885;12871937;14654079;14766753;15035622;15308560;15308695;15489334;15611084;16091359;16189514;16260419;16713569;17567603;17712045;18579528;18629440;18654987;19056867;19333378;19540310;19946888;20516018;20870722;20926691;20927484;21139048;21806988;21832049;21890473;21900206;21906983;21958383;21963094;21987572;21988832;22052202;22190034;22264514;22342889;22526829;22789739;22893466;23088713;23426682;23501106;23590222;23621864;24099740;24343571;24356419;24648509;24722188;24878522;8663431;9218461;9485382;9572851;9712717 5359 C9J0H3;C9J7K9;C9J9P4;C9JE06;F2Z3F2;H7C5I5;O15162 AB006746;ABBA01058981;AC069528;AC116544;AF098642;AF153715;AF224492;AK300181;AK313377;AMYH02007856;BC017901;BC021100;BC032718;BC070251;CH471052;DR005513;JA738777;NM_021105;XM_005247538 AAC99413;AAF80593;AAH17901;AAH21100;AAH32718;AAH70251;ABM81805;ABM84959;BAA32568;BAG36175;BAG61960;CCF77041;EAW78923;EAW78924;EAW78925;EAW78926;EAW78927;EAW78928;EAW78929;EAW78930;NP_066928;O15162;XP_005247595 Hs.130759 1793542;1853962;2148512;2152550;2156844;2219514 PLSCR1__5724;PMC229255P5;SGC32718;SHGC-77431;SHGC-77437;STS-N33501 MMTRA1B OTTHUMP00000215253;OTTHUMP00000215254;OTTHUMP00000215255;OTTHUMP00000215311;OTTHUMP00000215316;PL scramblase 1;ca(2+)-dependent phospholipid scramblase 1;erythrocyte phospholipid scramblase protein-coding ENSG00000188313 HGNC:9092 08855 604170 VALIDATED 8552512 PLS3-AS1 PLS3 antisense RNA 1 X X q23 114752497 114797058 - 115518182 115562731 - 14702039;16344560 101927352 ABBA01053687;ABBA01053688;ABBA01053689;ABBA01053690;ABBA01053691;ABBA01053692;ABBA01053693;ABBA01053694;ABBA01053695;ABBA01053696;ABBA01053697;ABBA01053698;AC003983;AK127380;AL589842;AMYH02040277;DA167404;DB018483;HG512658;HG512659;NR_110383;NR_110384;XR_245848;XR_254170;XR_426544 Hs.571683 ncrna ENSG00000271826 HGNC:50343 VALIDATED 733629 PLRG1 pleiotropic regulator 1 This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 4 4 4 q31.2-q32.1 152789011 152802847 - 155456149 155471585 - 154534997 154550433 - 1580863;6480464;6907045 11101529;11544257;11991638;12176931;12477932;14576297;14702039;15342556;15489334;15635413;16159877;16196087;17276391;17332742;17353931;19615732;19838058;20176811;20211142;20360068;20467437;20508642;21139048;21145461;21385873;21536736;21757653;21832049;21890473;21906983;21963094;22174317;22365833;22505724;22751105;22939629;22990118;23022480;23084401;23455922;24457600;24654937;24816145;9731529;9765207 5356 B7Z982;D6RA26;D6RE04;H0YA24;H0YAA2;O43660 ABBA01070157;AC107385;AF044333;AK002108;AK304574;AK307997;AMYH02010333;AW291931;BC020786;BC036046;BC106004;BP314297;CH471056;NM_001201564;NM_002669 AAD09407;AAH20786;AAI06005;BAG51016;BAH14218;EAX04940;EAX04941;NP_001188493;NP_002660;O43660 Hs.249996 1654893;1660699;1668269;1853420;2173214 D4S2786;D4S2899;SHGC-24137;SHGC-59765;WIAF-1589 Cwc1;MGC110980;PRL1;PRPF46;Prp46;TANGO4 OTTHUMP00000220176;OTTHUMP00000220178;pleiotropic regulator 1 (PRL1 homolog, Arabidopsis);pleiotropic regulator 1 (PRL1, Arabidopsis homolog);transport and golgi organization 4 homolog APPROVED protein-coding ENSG00000171566 HGNC:9089 16181 605961 REVIEWED 1315960 PLSCR3 phospholipid scramblase 3 ENCODES a protein that exhibits calcium-dependent protein binding; INVOLVED IN apoptotic process (inferred); cellular response to lipopolysaccharide (inferred); cholesterol homeostasis (inferred); FOUND IN plasma membrane; INTERACTS WITH 8'-apo-beta,psi-caroten-8'-al; beta-carotene; disodium selenite 17 17 17 p13.1 7318970 7323756 - 7293046 7298162 - 7389727 7394843 - 1580863;6480464 10930526;12477932;12649167;14573790;14702039;15489334;16189514;16939411;17226776;18256029;18491232;19333378;19540310;19953087;21139048;21906983;23350699 57048 Q9NRY6 ABBA01054862;AC113189;AF159442;AF289602;AK075188;AK098229;AK124006;AK314643;AMYH02032899;BC011735;BC028080;BC093026;BG830095;CH471108;CQ783273;CX785894;NM_001201576;NM_020360 AAF91083;AAH11735;AAH93026;AAL55786;ABM84339;ABM87732;BAC11458;BAG37205;CAF86478;EAW90198;EAW90200;EAW90202;NP_001188505;NP_065093;Q9NRY6 Hs.534591;Hs.736428 1678393;1681516;2117142;2219516 PLSCR3__5725;RH17416;RH79604;RH93312 PL scramblase 3;ca(2+)-dependent phospholipid scramblase 3 protein-coding ENSG00000187838 HGNC:16495 07400 607611 VALIDATED 731591 PLS3 plastin 3 Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] X X X q23 115230242 115320243 + 114795177 114885181 + 115560850 115650861 + 1580863;6480464;8547669;8699517 20624897 12119179;12477932;14567899;14612505;14756805;15342556;15489334;15741236;16009940;16115810;16142308;17353931;17370265;17676665;18440926;18569641;18781797;19135240;20085233;20360068;20937953;21139048;21145461;21832049;21890473;21906983;21907836;22053931;22495182;22505724;22627769;22863883;22939629;23125841;23150633;23263861;23378342;23429988;23549633;2378651;24088043;24172247;24284364;3211125;4053036;7806577;8125298;8428952;8889548;9302997 5358 B4DI60;B4DPW9;F2Z2Z9;F8W8D8;H7C4N2;P13797;U3KQI3 AA704125;ABBA01053698;ABBA01053699;ABBA01053700;ABBA01053701;ABBA01053702;ABBA01053703;ABBA01053704;ABBA01053705;ABBA01053706;ABBA01053707;ABBA01053708;ABBA01053709;AC003983;AC005000;AK222801;AK294385;AK294509;AK295429;AK298501;AK298530;AK300575;AK311211;AK311397;AK312391;AL589842;AMYH02040277;AMYH02040278;AMYH02040279;AMYH02040280;BC008588;BC039049;BC056898;BC150494;BM979335;BP214207;CH471120;DC320695;DC357886;DC416446;L05491;M22299;M34427;NG_012518;NM_001136025;NM_001172335;NM_001282337;NM_001282338;NM_005032 AAA36759;AAA61214;AAB02844;AAH08588;AAH39049;AAH56898;AAI50495;ABM82096;ABM85279;BAD96521;BAG35308;BAG57642;BAG57725;BAG58372;BAG60708;BAG60731;BAH13307;EAX02614;NP_001129497;NP_001165806;NP_001269266;NP_001269267;NP_005023;P13797 Hs.496622 1654009;1691676;1700318;1717425;1739757;1855108;2133321;2153563 AL008905;AL008933;AL031573;AL032606;DXS7571E;RH103779;RH122203;STS-AA004696 BMND18;DKFZp686G1497;T-plastin OTTHUMP00000023876;OTTHUMP00000215746;T fimbrin;T plastin;plastin 3 (t-isoform);plastin-3 APPROVED protein-coding ENSG00000102024 HGNC:9091 02133 300131;300910 REVIEWED 6481306 PLSCR5-AS1 PLSCR5 antisense RNA 1 100874104 AC116544 APPROVED ncrna HGNC:40907 1323284 PLSCR4 phospholipid scramblase 4 ENCODES a protein that exhibits CD4 receptor binding; enzyme binding; INVOLVED IN cellular response to lipopolysaccharide (inferred); FOUND IN extracellular vesicular exosome; plasma membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 8'-apo-beta,psi-caroten-8'-al 3 3 3 q24 144327454 144385997 - 145910122 145968966 - 146192335 146251179 - 1580863;6480464 10930526;12477932;15342556;15489334;16189514;16344560;18256029;19333378;19540310;20379614;21139048;21690087;23088713;23089641 57088 C9J3P9;C9J664;C9J6E1;C9J916;C9JNW2;E9PHR9;Q9NRQ2 ABBA01058987;AC092982;AF087887;AF199023;AK128442;AK290214;AK292815;AK312809;AL833760;AMYH02007855;AW086426;AW665992;AX239688;AX239690;AY550971;BC028354;BG538024;BI598345;BP201782;BU160106;BU567842;CH471052;DA185957;DA444235;NM_001128304;NM_001128305;NM_001128306;NM_001177304;NM_020353;XM_005247654;XM_005247655 AAF89960;AAH28354;AAP97186;AAT52217;ABM92224;ABW03341;BAC87442;BAF82903;BAF85504;BAG35667;CAC88310;CAC88311;CAH56232;EAW78935;EAW78936;EAW78937;EAW78938;NP_001121776;NP_001121777;NP_001121778;NP_001170775;NP_065086;Q9NRQ2;XP_005247711;XP_005247712 Hs.477869 5107631 SHGC-56800 TRA1 Ca(2+)-dependent phospholipid scramblase 4;OTTHUMP00000215194;OTTHUMP00000215195;OTTHUMP00000215196;OTTHUMP00000215197;OTTHUMP00000215198;OTTHUMP00000215199;OTTHUMP00000215200;PL scramblase 4;cell growth inhibiting protein 43 protein-coding ENSG00000114698 HGNC:16497 07401 607612 VALIDATED 1349492 PLSCR5 phospholipid scramblase family, member 5 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (+)-catechin; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 q24 144720660 144741039 - 146294342 146324003 - 146576608 146606216 - 6480464;8554872 12477932;22589738 389158 A0PG75 ABBA01058981;AC116544;AMYH02007857;AY436642;BC157886;BC171917;KF457694;NM_001085420;XM_005247440 A0PG75;AAI57887;AAI71917;AAR99737;NP_001078889;XP_005247497 Hs.254692 OTTHUMP00000215326;OTTHUMP00000215327;OTTHUMP00000215328;phospholipid scramblase family member 5 protein-coding ENSG00000231213 HGNC:19952 VALIDATED 1353643 PLVAP plasmalemma vesicle associated protein ENCODES a protein that exhibits protein homodimerization activity (inferred); INVOLVED IN MAPK cascade; positive regulation of cellular extravasation; tumor necrosis factor-mediated signaling pathway; FOUND IN caveola; cell surface; INTERACTS WITH elemental selenium; paracetamol; selenium atom 19 19 19 p13.2 17364020 17389889 - 17462264 17488137 - 17351455 17377328 - 6480464 10366592;11401446;12475376;12477932;14702039;15155804;15489334;15971170;16278383;17207965;18029348;19420356;20979949;21827737;22627768 83483 M0QXT5;M0R310;Q9BX97 ABBA01051193;ABBA01051194;ABBA01051195;ABBA01051196;ABBA01051197;AC010319;AC010463;AF326591;AF348827;AK074054;AK096030;AK313837;AL834363;AMYH02035702;BC050365;BC056414;CH471106;D83199;NM_031310 AAH50365;AAH56414;AAK11226;AAK20040;ADQ32218;BAB84880;BAC04681;CAD39027;EAW84600;NP_112600;Q9BX97 Hs.107125 1768367;1852596 RH66747;STS-AA010816 FELS;PV-1;PV1;gp68 fenestrated endothelial-linked structure protein;plasmalemma vesicle protein 1;plasmalemma vesicle-associated protein protein-coding ENSG00000130300 HGNC:13635 09626 607647 PROVISIONAL 1352937 PLXDC1 plexin domain containing 1 ENCODES a protein that exhibits receptor activity (inferred); INVOLVED IN multicellular organismal development (inferred); spinal cord development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN receptor complex; INTERACTS WITH benzo[a]pyrene; diazinon; fonofos 17 17 17 q21.1 33880385 33968781 - 37219556 37308946 - 39063303 39153283 - 1580863;6480464;8554872 10947988;11559528;12477932;14702039;15489334;15574754;16344560;16574105;17560052;18316703;20032373;20379614;21890473;21958527;8619474;9110174 57125 B3KSI0;B4E173;C9JCL2;C9JWQ3;J3KS04;J3QR40;J3QRR7;Q8IUK5 ABBA01031884;ABBA01031885;ABBA01031886;AC004408;AC091178;AF070526;AF279144;AF378753;AK093589;AK127539;AK303699;AK312999;AL833517;AMYH02033370;AMYH02033371;AMYH02033372;AY704670;AY704671;AY704672;BC036059;CH471152;DA205327;NM_020405;XM_006721981;XM_006721982;XM_006721983;XM_006721984 AAG00869;AAH36059;AAL11990;AAV85657;AAV85658;AAV85659;ACE86780;ACE87466;BAC87025;BAG35835;BAG52742;BAG64685;EAW60551;EAW60552;EAW60553;NP_065138;Q8IUK5;XP_006722044;XP_006722045;XP_006722046;XP_006722047 Hs.125036 1651275;1656128;1696460;1729237;1729239;1731995;1742965;1760691;1777262;2146537;2156016;2161580;2182870;5015404;5022578;5095696;7187012 A004S34;D17S2091;D17S614;D17S964;D1S1423;G59321;G62212;G62213;GDB:217148;L17705;RH11960;RH12551;RH41871;SHGC-144229;SHGC-79772;WI-20714 DKFZp686F0937;FLJ36270;FLJ45632;TEM3;TEM7 2410003I07Rik;OTTHUMP00000164240;plexin domain-containing protein 1;tumor endothelial marker 3;tumor endothelial marker 7 protein-coding ENSG00000161381 HGNC:20945 08439 606826 VALIDATED 1351830 PLXNA4A plexin A4, A ENCODES a protein that exhibits semaphorin receptor activity (inferred); INVOLVED IN anterior commissure morphogenesis (inferred); axon guidance (inferred); chemorepulsion of branchiomotor axon (inferred); FOUND IN integral component of membrane (inferred); intracellular (inferred); plasma membrane (inferred) q32.3 1580863;6480464 10520995;10997877;12110185;12690205;12853948;12975309;14702039;15489334;9074931 57671 AA076688;AA076883;AA076904;AA077578;AA077700;AB046770;AK092345;AK095606;AL834504;CH236950 BAB13376;BAC03866;BAC04587;CAD39161;EAL24077;Q8NAP5;Q9HCM2 Hs.511454 1338834;1646605;1647017;1648914;1652997;1669071;1707100;1757383;1773561;1786252;1786470;1786472;1849651;2119509;2128677;2132343;2136259;2136681;2137847;2147892;2152295;2160630;2161041;7185680 1248;A002T25;AFMa240wc9;D7S1804;D7S512;D7S556E;G09882;G17193;GDB:1318448;GDB:4585001;GDB:4585040;GDB:4585113;GDB:4585279;GDB:4585401;GDB:4585426;GDB:4585449;GDB:4585531;GDB:4585647;SHGC-143876;SHGC-144776;SHGC-172821;SHGC-172834;SHGC-81312;STS-M78506 DKFZp566O0546;FLJ35026;FLJ38287;PLEXA4;PLXNA4 protein-coding HGNC:9102 1342576 PLXNA1 plexin A1 ENCODES a protein that exhibits receptor activity (inferred); semaphorin receptor activity (inferred); INVOLVED IN axon guidance (inferred); dichotomous subdivision of terminal units involved in salivary gland branching (inferred); multicellular organismal development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; nucleus; INTERACTS WITH 17beta-estradiol; atrazine; disodium selenite 3 3 3 q21.3 125131626 125180424 + 126707437 126756235 + 126988521 127037392 + 1580863;6480464;8554872 10520994;10520995;11108845;11230166;11239433;11604131;11784792;12093729;12477932;12559962;14500350;14702039;14977921;15187088;16641997;16715077;17170699;17520388;18029348;18161927;19176370;19240061;19480842;19909241;21116278;21139048;21890473;21906983;22268729;23000965;8570614 5361 Q9UIW2 ABBA01016382;AC011199;AI472001;AK054675;AK055605;AK126101;AK127254;AK128612;AK293425;AL136663;AMYH02007596;BC017323;BC032432;BC042904;BQ920360;CH471052;NM_032242;X87832;XM_006713663 AAI56130;AAI57021;BAC86440;BAG54700;BAG56931;CAB57274;EAW79349;EAW79350;EAW79351;NP_115618;Q9UIW2;XP_006713726 Hs.432329 1686939;2108377;2118921;2119830;2132505;2151023;2153956;2165369 D3S2849E;G16008;PLXNA1_8549;RH12525;RH41820;RH47496;RH80703;STS-H29287 DKFZp761P19121;NOV;NOVP;PLXN1 OTTHUMP00000215966;plexin 1;plexin-A1;semaphorin receptor NOV protein-coding ENSG00000114554 HGNC:9099 11868 601055 VALIDATED 1602663 PLXNA4 plexin A4 ENCODES a protein that exhibits semaphorin receptor activity (inferred); INVOLVED IN anterior commissure morphogenesis (inferred); axon guidance (inferred); chemorepulsion of branchiomotor axon (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); intracellular (inferred); plasma membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol; bisphenol A; cobalt dichloride 7 7 7 q32.3 126560410 127085672 - 131808091 132333447 - 132123332 132648688 - 6480464;8554872 10520995;10997877;11604131;12477932;12690205;12853948;12975309;14702039;15489334;17207965;19401682;19909241;19913121;20379614;20628086;21832283;22424883;22566634;23362303;23509962;23593239;24204828;24244438;9074931 91584 Q9HCM2 AA253415;AB046770;ABBA01001083;ABBA01001084;ABBA01001085;ABBA01001086;ABBA01001087;ABBA01001088;ABBA01001089;ABBA01001090;ABBA01001091;ABBA01001092;ABBA01001093;ABBA01001094;AC009364;AC009365;AC009785;AC011625;AC018643;AC026239;AK055487;AK057743;AK091538;AK092345;AK095606;AK123428;AL137352;AL834504;AMYH02016779;AMYH02016780;AMYH02016781;AY358850;BC028744;CD243425;CH236950;CH471070;DR003088;NM_001105543;NM_020911;NM_181775;XM_005250686;XM_005250687;XM_006716171 AAH28744;AAQ89209;ADQ32786;BAB13376;BAC04587;BAC85615;CAB70707;CAD39161;EAL24076;EAL24077;EAW83793;EAW83794;EAW83795;EAW83796;NP_001099013;NP_065962;NP_861440;Q9HCM2;XP_005250743;XP_005250744;XP_006716234 Hs.511454 DKFZp434G0625;DKFZp434G0625PRO34003;FAYV2820;PLEXA4;PLXNA4A;PLXNA4B;PRO34003 plexin-A4 APPROVED protein-coding ENSG00000221866 HGNC:9102 10901 604280 VALIDATED 1349180 PLXNA3 plexin A3 This gene encodes a member of the plexin class of proteins. The encoded protein is a class 3 semaphorin receptor, and may be involved in cytoskeletal remodeling and as well as apoptosis. Studies of a similar gene in zebrafish suggest that it is important for axon pathfinding in the developing nervous system. This gene may be associated with tumor progression. [provided by RefSeq, Aug 2013] X X X q28 153847674 153863036 + 153686623 153701985 + 154458281 154473646 + 1580863;6480464;8554872 10520995;10737800;11604131;15146197;15203218;19480842;19909241;20138877;21900206;21925246;8248200;8281148;8570614;8733135;8806646 55558 P51805 ABBA01045277;ABBA01045278;AC244090;AW001914;BF798844;BG820285;BQ718472;BQ720233;BX936365;CB528571;CD365141;CD628272;CH471172;CN427843;CN427844;CN427848;CN484803;HY098587;HY158513;NG_021298;NM_017514;X74609;X87197;X87852;XM_005274705;XM_005274706;XM_006724829;XM_006724830;XR_430556 AAI56374;AAI72494;CAA61132;EAW72702;EAW72703;NP_059984;P51805;XP_005274762;XP_005274763;XP_006724892;XP_006724893 Hs.632839 1664107;1798648;1798740;1799028;1799132;1799186;1799444;1799690;1799744;1799974;1800456;1800500;1800740;1801122;1802538;1818424;1821518;2037274;2037276;2037278;2037280;2037282;2037284;2037286;2037288;2037290;2037292;2037294;2037296;2037298;2037300;2037302;2037304;2037306;2037308;2037310;2037312;2037314;2037316;2037318;2037320;2037322;2037324;2037326;2037328;2037330;2037332;2037334;2037336;2037338;2037340;2037342;2037344;2037346;2037348;2037350;2037352;2037354;2037356;2037358;2037360;2037362;2037364;2037366;2037368;2037370;2037372;2037374;2037376;2037378;2037380;2037382;2037384;2037386;2037388;2037390;2037392;2037394;2037396;2037398;2037400;2037402;2037404;2037406;2037408;2037410;2037412;2037414;2037416;2102564;2102566;2102568;2102570;2102572;2102574;2102576;2102578 ECD00164;ECD00210;ECD00359;ECD00412;ECD00441;ECD00573;ECD00699;ECD00726;ECD00841;ECD01088;ECD01110;ECD01231;ECD01433;ECD02155;ECD10270;ECD11845;REN89648;REN89649;REN89650;REN89651;REN89652;REN89653;REN89654;REN89655;REN89656;REN89657;REN89658;REN89659;REN89660;REN89661;REN89662;REN89663;REN89664;REN89665;REN89666;REN89667;REN89668;REN89669;REN89670;REN89671;REN89672;REN89673;REN89674;REN89675;REN89676;REN89677;REN89678;REN89679;REN89680;REN89681;REN89682;REN89683;REN89684;REN89685;REN89686;REN89687;REN89688;REN89689;REN89690;REN89691;REN89692;REN89693;REN89694;REN89695;REN89696;REN89697;REN89698;REN89699;REN89700;REN89701;REN89702;REN89703;REN89704;REN89705;REN89706;REN89707;REN89708;REN89709;REN89710;REN89711;REN89712;REN89713;REN89714;REN89715;REN89716;REN89717;REN89718;REN89719;WI-13459;stSG604067;stSG604068;stSG604071;stSG604073;stSG604074;stSG604075;stSG604076;stSG604077 6.3;PLXN3;PLXN4;SEX;XAP-6 HSSEXGENE;OTTHUMP00000032114;Sex chromosome X transmembrane protein of HGF receptor family 3;plexin-4;plexin-A3;semaphorin receptor SEX APPROVED protein-coding ENSG00000130827 HGNC:9101 02062 300022 REVIEWED 1321541 PLXNB1 plexin B1 ENCODES a protein that exhibits semaphorin receptor activity; GTPase activating protein binding (ortholog); INVOLVED IN negative regulation of cell adhesion; regulation of cell shape; regulation of cytoskeleton organization; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane; semaphorin receptor complex; INTERACTS WITH 2-methylcholine; atrazine; cobalt dichloride 3 3 3 p21.31 48396031 48422232 - 48445261 48471460 - 48403854 48430087 - 1580863;6480464;8554872 10520995;11035813;11937491;12123608;12183458;12196628;12198496;12220504;12406905;12477932;12533544;12559962;12730235;14702039;15184888;15210733;15218527;15297673;15632204;15642257;15929008;16055703;16188938;16335952;17383649;17855350;17916560;18024597;18025083;18275816;18279812;18321527;18417270;19367581;19444311;19483722;19805522;19843518;19909241;19940359;20040080;20164843;20610402;20877282;21029396;21059203;21216304;21812859;21912513;22028792;22378040;22404908;22807448;23603360;23775445;24114199;8570614;9455477 5364 O43157 AB007867;ABBA01024651;AC104448;AC134772;AJ011414;AJ011415;AK091832;AK092609;AK296776;AMYH02006717;BC066773;BC128094;BC129947;BC146793;CH471055;NM_001130082;NM_002673;X87904;XM_005265234;XM_006713206;XR_245138;XR_427278 AAI28095;AAI46794;BAA23703;BAG52423;BAG52582;BAG59355;CAB56221;CAB56222;CAB57277;EAW64864;EAW64865;EAW64866;NP_001123554;NP_002664;O43157;XP_005265291;XP_006713269 Hs.476209 1792498;2151537;2152351 PMC152287P2;SHGC-30574;STS-D29212 KIAA0407;MGC149167;PLXN5;SEP OTTHUMP00000164806;OTTHUMP00000210032;OTTHUMP00000210033;plexin 5;plexin-B1;semaphorin receptor SEP protein-coding ENSG00000164050 HGNC:9103 03032 601053 VALIDATED 1313288 PLXNA2 plexin A2 This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008] 1 1 1 q32.2 181426043 181648153 - 208195587 208417665 - 208022242 208244320 - 1580863;6480464;8554872 10520995;11604131;12372285;12421765;12477932;12975309;14702039;15489334;15818466;16344560;16402134;16932874;17339520;17346868;18065206;18096369;18583979;18628988;19367581;19480842;19666519;19909241;20379614;20455246;20633049;21348951;21925246;22011406;22095611;22912587;23708657;8570614;9455484 5362 O75051;Q9HAE7 AB007932;ABBA01048234;ABBA01048235;ABBA01048236;ABBA01048237;AK021813;AK055196;AK094259;AK094367;AK125154;AL356275;AL544219;AL590138;AL606753;AMYH02002580;AMYH02002581;AY358496;BC006193;BC009343;BC032125;BC094835;BC132676;BC136530;CH471100;DA500239;H11743;KF455150;NM_025179;X87831;XM_005273164;XM_005273165;XM_006711387 AAH06193;AAH09343;AAI32677;AAI36531;AAQ88860;BAA32308;BAB13902;BAB70871;CAB57275;EAW93457;NP_079455;O75051;XP_005273221;XP_005273222;XP_006711450 Hs.497626 1647243;1647875;1651919;1670183;1684070;1767612;1781702;2134430;2148754;2162415;2164918;2219518;5491320 AL009269;AL009394;AL009499;D1S3376;MARC_9713-9714:996688545:1;PLXNA2__5727;RH64525;RH99093;SHGC-155146;SHGC-76282;SHGC-76286;SHGC-76289;WI-11885 FLJ11751;FLJ30634;KIAA0463;OCT;PLXN2 OTTHUMP00000034732;plexin 2;plexin-A2;semaphorin receptor OCT;transmembrane protein OCT APPROVED protein-coding ENSG00000076356 HGNC:9100 03033 601054 REVIEWED 1314300 PLXDC2 plexin domain containing 2 ENCODES a protein that exhibits receptor activity (inferred); INVOLVED IN multicellular organismal development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; arsenite(3-); benzo[a]pyrene 10 10 10 p12.31 19791420 20255195 + 20105118 20575199 + 19816443 20289856 + 6480464;8554872 11559528;12477932;12975309;14702039;15164054;15489334;15574754;16335952;16385451;17192395;19625618;20379614;21139048;21310492;21890473;21903422;23897914 84898 Q6UX71 ABBA01034509;ABBA01034510;ABBA01034511;ABBA01034512;ABBA01034513;ABBA01034514;ABBA01034515;ABBA01034516;AC067743;AC069549;AF378757;AI311457;AK027529;AK127644;AK304591;AL157397;AL353147;AL353790;AMYH02022404;AMYH02022405;AMYH02022406;AMYH02022407;AY358486;BC012885;CH471072;KF455215;NM_001282736;NM_032812 AAH12885;AAL11994;AAQ88850;BAB55178;BAG65379;EAW86177;EAW86178;EAW86179;NP_001269665;NP_116201;Q6UX71 Hs.658134;Hs.733859;Hs.99472 1655584;1669547;1672913;1689268;1710768;1716683;1726569;1727779;1750827;1751051;1756973;1761411;1762517;1763675;1848814;2136089;2138344;2160701;2167159;2170585;2178177;2220002 A004U34;A009H11;D10S1573;D10S1578;G62666;G63155;PLXDC2__5726;RH121600;RH44752;RH48747;RH70086;RH98430;SGC31071;SHGC-104493;SHGC-104965;SHGC-144141;SHGC-145419;SHGC-146331;SHGC-147356;SHGC-33640;SHGC-84047;WI-15162 FLJ14623;TEM7R 1200007L24Rik;OTTHUMP00000019264;OTTHUMP00000019265;OTTHUMP00000019266;plexin domain-containing protein 2;tumor endothelial marker 7-related protein protein-coding ENSG00000120594 HGNC:21013 08440 606827 VALIDATED 1315460 PLTP phospholipid transfer protein The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41238859 41252245 - 44527259 44541003 - 45898620 45912364 - 1581040;1581038;1581039;1600654;1580863;6480464 12835223;14695459;14993244;16258026 10191289;10333293;11716766;11780052;11854286;11861670;12086920;12477932;12531890;12612088;12649089;12693940;12730304;12754275;12810820;12837922;12893687;12966036;14559902;14702039;15166780;15448094;15489334;15544352;15795933;15845396;15924430;15953936;16006562;16335952;16388083;16389649;16502470;16520487;16644710;16770077;16862459;17260960;17272752;17303779;17495597;17553507;17761633;17877759;17900150;17917406;17921435;18287097;18421000;18660489;19013296;19060906;19100548;19135989;19422933;19446293;19472218;19913121;19936222;19948975;19965587;20031551;20088939;20108050;20167577;20382708;20534134;20571754;20628086;20644014;20686565;20714154;20714348;20724654;20805453;20855565;20937151;20972250;21252068;21303701;21454568;21481395;21514421;21515415;21736953;21782857;21973210;22034170;22090281;22286219;22492872;22916037;23128233;23313246;23477743;23545183;24097068;24369175;24532668;7490104;7654777;8125298;8132678;8554588;8619474;8647810;9110174;9469594;9624168 5360 B3KUE5;P55058 AB076694;ABBA01052670;AF052157;AK092397;AK092523;AK097009;AK222690;AK289371;AK293150;AK299181;AL008726;AMYH02037154;AY509570;BC005045;BC019847;BC019898;CH471077;KF456924;L26232;NG_012115;NM_001242920;NM_001242921;NM_006227;NM_182676;U38950;XM_005260439 AAA36443;AAH05045;AAH19847;AAH19898;AAR87775;ABM82724;ABM85907;BAB79630;BAD96410;BAF82060;BAG53407;BAG56696;BAG61226;EAW75781;EAW75782;EAW75783;EAW75784;EAW75785;EAW75786;EAW75787;NP_001229849;NP_001229850;NP_006218;NP_872617;P55058;XP_005260496 Hs.439312 1669052;1775941;2139751;2140703;2154561 AL022251;Cda16d10;D20S1030;RH66081;STS-M22960 HDLCQ9 BPI fold containing family E;BPIFE;OTTHUMP00000031678;OTTHUMP00000031679;OTTHUMP00000214864;OTTHUMP00000214865;OTTHUMP00000214866;lipid transfer protein II APPROVED protein-coding ENSG00000100979 HGNC:9093 01399 172425 REVIEWED 1316607 PLXNC1 plexin C1 This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011] 12 12 12 q23.3 94213729 94370485 + 94542499 94701451 + 94148723 94307675 + 1580863;6480464 10520995;12477932;15746246;17081983;17671519;17910043;18628988;18987670;19318806;19462467;19792857;19946888;20727575;21610070;23160370;23518928;8619474;9110174;9586637 10154 B4DHQ7;F5H3A2;F8VUW4;F8W095;F8W1K6;O60486 AA609130;AB208934;ABBA01053364;ABBA01053365;AC073655;AC123567;AF030339;AF035307;AK295226;AK304327;AK307920;AK308985;AMYH02026950;AMYH02026951;AMYH02026952;AMYH02026953;BC029934;CH471054;NM_005761;NR_037687;XM_006719186 AAC18823;AAI48591;AAI56868;BAD92171;BAG58219;BAH14160;EAW97500;NP_005752;O60486;XP_006719249 Hs.584845 1335944;1679848;1708568;1713829;1718923;1746149;1746151;1746603;1773191;2139352;2149020;2160677;2161965 D12S2125;D12S829;G64440;G64441;G64528;RH120803;RH123168;RH45721;RH46103;RH68932;RH91966;SHGC-85070;WI-14237 CD232;PLXN-C1;VESPR OTTHUMP00000243326;plexin (semaphorin receptor);plexin-C1;receptor for viral semaphorin protein;receptor for virally-encoded semaphorin;virus-encoded semaphorin protein receptor APPROVED protein-coding ENSG00000136040 HGNC:9106 05036 604259 REVIEWED 1602433 PM20D1 peptidase M20 domain containing 1 ENCODES a protein that exhibits metal ion binding (inferred); peptidase activity (inferred); INVOLVED IN negative regulation of neuron death; regulation of defense response to virus by host; regulation of viral process; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A (ortholog); furan (ortholog) 1 1 1 q32.1 178933498 178955670 - 205797150 205819276 - 205828022 205850148 - 6480464;8554872 12477932;14702039;16344560;18187620;19056867;19915576;23269536 148811 Q6GTS8 ABBA01027402;ABBA01027403;ABBA01027404;AC119673;AK057131;AK290786;AMYH02002551;BC039170;BC063477;BI832659;BM987801;CH471067;DA387977;NM_152491;XM_006711178;XR_241071 AAH39170;AAH63477;BAB71368;BAF83475;EAW91584;EAW91585;NP_689704;Q6GTS8;XP_006711241 Hs.177744 Cps1;FLJ32569 OTTHUMP00000034235;peptidase M20 domain-containing protein 1;probable carboxypeptidase PM20D1 protein-coding ENSG00000162877 HGNC:26518 08133 VALIDATED 1321904 PLXND1 plexin D1 ENCODES a protein that exhibits protein domain specific binding; semaphorin receptor activity (ortholog); INVOLVED IN angiogenesis (ortholog); endothelial cell migration (ortholog); regulation of angiogenesis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN lamellipodium; integral component of plasma membrane (ortholog); INTERACTS WITH cobalt dichloride; coumestrol; dexamethasone 3 3 3 q22.1 127700885 127752418 - 129274056 129325582 - 129555213 129606739 - 6480464;8554872 10520995;12412018;12421765;12477932;15239958;15301830;15489334;15550623;16335952;17318185;18974298;19703316;20385769;20664171;21139048;21505259;21559368;21795701;22738647;24139859;24254849;24841563;9734811 23129 D6RH25;H0Y9D1;H0YA64;H0YAB2;H0YAM9;Q9Y4D7 AB014520;ABBA01059226;AC023162;AC080007;AK026388;AK299425;AMYH02007641;AMYH02007642;AY116661;BC003526;BC011848;BC030110;BC044228;BC062465;BC150280;BU527983;CH471052;CX761094;NM_015103 AAH03526;AAH11848;AAH44228;AAH62465;AAI50281;AAM49063;BAA31595;BAG61405;EAW79238;EAW79239;EAW79240;NP_055918;Q9Y4D7 Hs.301685 1644438;1728949;2156042;2219520 D10Bir17;D3S3945;PLXND1__5731;SHGC-77334 KIAA0620;MGC75353;PLEXD1 OTTHUMP00000215785;plexin-D1 protein-coding ENSG00000004399 HGNC:9107 05046 604282 VALIDATED 1313554 PLXNB2 plexin B2 Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008] 22 22 22 q13.33 34588312 34609097 - 50713408 50746062 - 50274979 50307642 - 1580863;6480464;8554872 10520995;10591208;12123608;12183458;12477932;12533544;12730235;14702039;15146197;15184888;15489334;16169070;16303743;18029348;19581412;19805522;21139048;21890473;21900206;21906983;21963094;21987572;22268729;22939629;23000965;24158112;7889532;8593609;9205841 23654 A6QRG9;A6QRH1;E2PU09;H0Y6J7;H0Y7X5;O15031 AB002313;AB075511;ABBA01011383;ABBA01011384;AK025415;AK025701;AK056543;AK074932;AK123131;AK126394;AL022328;AMYH02038603;AMYH02038604;BC000221;BC004542;BC110366;BC127770;BC148225;BC148280;BT006887;BX649592;CN388620;CR790389;CT010163;JA738607;KF457511;NM_012401;S76730;XM_005261908;XM_005261909;XM_005261910;XM_005261911;XM_006724413 AAB33781;AAH04542;AAI10367;AAI27771;AAI72440;AAP35533;BAA21571;BAE45757;CCF76956;NP_036533;O15031;XP_005261965;XP_005261966;XP_005261967;XP_005261968;XP_006724476 Hs.3989;Hs.736016 1678821;1739191;1781128;2166049 D22S1091;RH11264;STS-W70072;stdJ402G11A KIAA0315;MM1;Nbla00445;PLEXB2;dJ402G11.3 OTTHUMP00000196636;plexin-B2 APPROVED protein-coding ENSG00000196576 HGNC:9104 05050 604293 VALIDATED 1350171 PLXNB3 plexin B3 The protein encoded by this gene is a member of the plexin family. It functions as a receptor for semaphorin 5A, and plays a role in axon guidance, invasive growth and cell migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X q28 153263333 153278483 + 153029651 153044801 + 153764196 153779346 + 1334509;1580863;6480464 10520995 10574462;12123608;12183458;12421765;15184888;15218527;15790807;16122393;17033634;19329067;19850054;20696765;21706053;8661155 5365 A8K920;B7Z3H9;H7BZV5;H7C0P4;H7C3L0;Q9ULL4 AB033032;ABBA01045358;AF149019;AK292535;AK295762;AK295849;AK295894;AK296538;AK304705;AK307894;AMYH02040843;AMYH02040844;AY927551;CH471172;KF459513;KF459516;NG_013255;NM_001163257;NM_005393;U52111 AAG01376;AAI72435;BAA86520;BAF85224;BAH12182;BAH12202;BAH12215;BAH12382;BAH14241;EAW72815;NP_001156729;NP_005384;Q9ULL4 Hs.632833 1772294;2182202 A004O03;A008P20 FLJ76953;PLEXB3;PLEXR;PLXN6 OTTHUMP00000025973;plexin 6;plexin-B3 APPROVED protein-coding ENSG00000198753 HGNC:9105 02198 300214 REVIEWED 1317289 PM20D2 peptidase M20 domain containing 2 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN extracellular vesicular exosome; nucleus; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 6 6 6 q15 90273652 90293174 + 89850047 89875288 + 89140313 89165569 + 6480464 12477932;14702039;19322201;21890473;21906983;21963094;22505724;24250222;24654937;24816145;24891507 135293 Q8IYS1 AA503266;ABBA01040525;ABBA01040526;ABBA01040527;AK094996;AK127529;AK302464;AL353135;AMYH02014075;BC035036;BC045583;BX640865;CH471051;NM_001010853;XM_005248661;XM_005248662;XM_006715347 AAH35036;AAH45583;BAG63754;CAE45925;EAW48559;NP_001010853;Q8IYS1;XP_005248718;XP_005248719;XP_006715410 Hs.356247 1690440;2218976;5109281;5111535 ACY1L2__4250;D1S1425;RH46575;RH78676 ACY1L2;bA63L7.3 β-alanyl-lysine dipeptidase;OTTHUMP00000016847;aminoacylase 1-like 2;aminoacylase 1-like protein 2;aminoacylase-1-like protein 2;peptidase M20 domain-containing protein 2 protein-coding ENSG00000146281 HGNC:21408 16473 615913 VALIDATED 1347426 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 INVOLVED IN apoptotic process; cellular response to glucose starvation; cellular response to hypoxia; PARTICIPATES IN intrinsic apoptotic pathway; p53 signaling pathway; FOUND IN cytosol; mitochondrion; nucleus; INTERACTS WITH (-)-anisomycin; (-)-demecolcine; (-)-epigallocatechin 3-gallate 18 18 18 q21.32 54285254 54289600 + 57567153 57571538 + 59899960 59904306 + 1580863;2314029;2314140;6480464;6907045 18959742;19641503 10807576;11181995;12477932;12879012;14500711;14699081;15102863;15299072;15489334;15572378;15694340;15705586;15721256;15856024;15901672;16169070;16697956;16782027;16888645;16928686;17024184;17038534;17216584;17227835;17289999;17599062;18192275;18231856;18354037;18398749;18408751;18630524;18708163;18784742;19050264;19148187;19164757;19269851;19298224;19322201;19372561;19452318;19515722;19540835;19815839;20051518;20085765;20156337;20223826;20393480;20639865;20694148;20802529;20935673;21048031;21113147;21139048;21139584;21145489;21153863;21353614;21454712;21516346;21518486;21613222;21628457;21698224;21890473;21900206;21906983;21907705;21911456;22053931;22216287;22219388;22245094;22361683;22430213;22446329;22548841;22590594;22615771;22718761;23000965;23014529;23300762;23302226;23341456;23429261;23499448;23669352;23684722;23770605;23798675;23828551;2398525;24387758;24457957;24811167 5366 Q13794 ABBA01056173;AC107990;AK311943;AMYH02034841;BC013120;BC032663;BF667112;BM999509;CH471096;D90070;NM_021127 AAH13120;AAH32663;ADZ15689;BAA14111;BAG34884;NP_066950;Q13794 Hs.96 1662007;1678709;1687922;2219522;7187430 PMAIP1__5732;RH81004;RH98852;STS-D90070 APR;NOXA OTTHUMP00000163652;PMA-induced protein 1;adult T cell leukemia-derived PMA-responsive;immediate-early-response protein APR protein-coding ENSG00000141682 HGNC:9108 12002 604959 VALIDATED 1346499 PMCHL2 pro-melanin-concentrating hormone-like 2, pseudogene ENCODES a protein that exhibits melanin-concentrating hormone activity (inferred); INVOLVED IN synaptic transmission (inferred) 5 5 5 q13 1260 11468 + 70671612 70681820 + 71375785 71385993 + 1580863 11070051;11181993;19068116;8188237 5370 Q9BQD1 ABBA01012027;AC139463;AC145141;AC245931;AF238383;AY008412;AY008413;AY028320;EU921425;EU921431;EU921433;NR_003922 AAK31290;AAK31296;AAK31297;Q9BQD1 Hs.742169 1677776;1682646;1683493;1743535;5493105;5493799;5493969 D5F143S1;RH26926;RH70218;RH83560;UniSTS:480574;UniSTS:484292;UniSTS:494878 APPROVED pseudo ENSG00000169040 HGNC:9111 15941 176794 VALIDATED 1317520 PMF1 polyamine-modulated factor 1 ENCODES a protein that exhibits leucine zipper domain binding; transcription coactivator activity; INVOLVED IN chromosome segregation; FOUND IN MIS12/MIND type complex; INTERACTS WITH 2-methylcholine; 5-fluorouracil; atrazine 1 1 1 q12 129255764 129282815 + 156182779 156209868 + 156212988 156240077 + 1580863;6480464 10419538;11256947;12020345;12477932;14702039;15371340;15489334;15502821;16169070;16585270;16710414;17213182;17623298;19088041;20404110;21890473;21906983;21963094;21988832;22505724;22682992;22869522;23000965;23455924 11243 D3DVB3;Q6P1K2;V9GYH6;V9GYI0 ABBA01016665;ABBA01016666;ABBA01016667;ABBA01016668;ABBA01016669;AF141309;AF141310;AK022523;AK124646;AK289490;AK290260;AK307287;AK310694;AL080101;AL135927;AMYH02001967;AMYH02001968;BC050735;BC056417;BC065031;CH471121;DC310420;DT220098;NM_001199653;NM_001199654;NM_007221 AAD50080;AAD50081;AAH50735;AAH56417;AAH65031;ACE86990;ACE87679;BAC85916;BAF82179;BAF82949;CAH10730;EAW52987;EAW52988;EAW52989;EAW52990;NP_001186582;NP_001186583;NP_009152;Q6P1K2 Hs.530479 1663095;1680962;1770469;1858403;2109677;2127961;2185985 A002Y27;A008U08;D1S1885E;PMF1_9242;RH68629;RH79563;SHGC-64332 Est1p-like protein B (EST1B);OTTHUMP00000016581;OTTHUMP00000016582;OTTHUMP00000016584 protein-coding ENSG00000160783 HGNC:9112 11441 609176 VALIDATED 5507928 PMF1-BGLAP PMF1-BGLAP readthrough This locus represents naturally occurring read-through transcription between the neighboring PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants encoding isoforms that share sequence identity with the upstream gene product, but they contain distinct C-termini due to frameshifts versus the downstream gene coding sequence. [provided by RefSeq, Dec 2010] 1 1 q 156182779 156213123 + 156212988 156243332 + 6480464 12477932;20967262;21890473;21906983;21963094;22505724;23000965 100527963 Q6P1K2;U3KQ54 ABBA01016665;ABBA01016666;ABBA01016667;ABBA01016668;ABBA01016669;AL135927;AMYH02001967;AMYH02001968;BC033656;CD049192;CD388852;CH471121;FY213424;NM_001199661;NM_001199662;NM_001199663;NM_001199664 ABM84667;ABM92199;EAW52985;NP_001186590;NP_001186591;NP_001186592;NP_001186593 Hs.530479;Hs.654541 1794720 PMC351321P3 FLJ12287;PMF1 OTTHUMP00000016583;OTTHUMP00000018877;polyamine-modulated factor 1 protein-coding ENSG00000260238 HGNC:42953 VALIDATED 1345041 PMFBP1 polyamine modulated factor 1 binding protein 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog) 16 16 16 q22.2 56467111 56520449 - 72152996 72206349 - 72117012 72172450 - 6480464;8554872 10493829;11076863;11230166;11468771;12477932;14702039;15489336;16344560;16381901;18029348;22001757;23333304;23383108 83449 F5GXW3;F5GYR2;F5H0H9;F5H4F8;F5H5J2;F8W771;G3V1Q7;H0YFP6;Q8TBY8 ABBA01016797;ABBA01016798;AC004682;AC009087;AF239683;AK093285;AK097465;AK122925;AK315004;AL136795;AMYH02032334;AMYH02032335;BC028423;CH471166;DB019901;DB082449;NM_001160213;NM_031293;XM_005256187;XM_006721293;XM_006721294;XR_429732 AAH28423;AAK15456;ABZ92204;BAC04121;BAG37499;BAG53801;CAB66729;CAL37772;EAW59175;EAW59176;EAW59177;EAW59178;EAW59179;NP_001153685;NP_112583;Q8TBY8;XP_005256244;XP_006721356;XP_006721357 Hs.714939 1337344 D16S3106 DKFZp434G131;FLJ40146 OTTHUMP00000236977;OTTHUMP00000236989;PMF-1 binding protein;PMF-1-binding protein;polyamine-modulated factor 1-binding protein 1 protein-coding ENSG00000118557 HGNC:17728 10157 VALIDATED 1353662 PMCHL1 pro-melanin-concentrating hormone-like 1, pseudogene ENCODES a protein that exhibits melanin-concentrating hormone activity (inferred); INVOLVED IN synaptic transmission (inferred) 5 5 5 p14.3 1260 11185 + 22142461 22152381 + 22142352 22152272 + 1580863 11070051;11181993;19068116;8188237;8326825;9729295 5369 Q16048 ABBA01066594;AC139463;AC139497;AF227988;AMYH02011007;AY008407;AY008408;AY008409;AY008410;AY008411;AY028318;EU921424;EU921426;EU921427;EU921428;EU921429;EU921430;EU921435;EU938381;NR_003921;S64288 AAB27494;AAF86356;AAK31288;AAK31289;AAK31291;AAK31292;AAK31293;AAK31294;AAK31295 Hs.247975 1677776;1682646;1683493;1743535;5493105;5493799;5493969 D5F143S1;RH26926;RH70218;RH83560;UniSTS:480574;UniSTS:484292;UniSTS:494878 APPROVED pseudo ENSG00000168967 HGNC:9110 15940 176793 VALIDATED 1322064 PMM1 phosphomannomutase 1 Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 25779317 25792298 - 41972890 41985871 - 41576886 41589867 - 1580863;6480464;6907045 10085245;10591208;12477932;12789572;14702039;15461802;15489334;16189514;16540464;17054774;17186415;18591914;18854154;18927083;21078624;21139048;21890473;21906983;21988832;23000965;24816145;9070917;9119384;9271215;9376685;9603909 5372 F8WFD5;Q92871 ABBA01055645;ABBA01055646;AK094811;AK130449;AK289368;AK316580;AL023553;AMYH02038443;BC010855;BC016818;CH471095;CR456544;D87810;NM_002676;U62526;U86070;XM_005261637;XM_005261638;XM_005261640;XM_005261641;XM_005261642;XR_430409 AAC00023;AAC51117;AAH10855;AAH16818;BAA13460;BAF82057;BAG38168;CAG30430;CAK54575;CAK54874;EAW60443;EAW60444;NP_002667;Q92871;XP_005261694;XP_005261695;XP_005261697;XP_005261698;XP_005261699 Hs.75835 1660157;1663054;2151334;2165206;2174033 A005T18;RH47292;STS-F10883;STS-U86070;WI-19569 PMM 1;PMMH-22;Sec53 OTTHUMP00000198843;brain glucose-1,6-bisphosphatase APPROVED protein-coding ENSG00000100417 HGNC:9114 03473 601786 REVIEWED 731886 PMCH pro-melanin-concentrating hormone The melanin-concentrating hormone (MCH) is a cyclic neuropeptide isolated initially from salmon pituitary gland and later from rat hypothalamus. In mammals, MCH perikarya are confined largely to the lateral hypothalamus and zona incerta area with extensive neuronal projections throughout the brain, including the neurohypophysis. The anatomic distribution suggests a neurotransmitter or neuromodulator role for MCH in a broad array of neuronal functions directed toward the regulation of goal-directed behavior, such as food intake, and general arousal. MCH and 2 other putative neuropeptides, NEI and NGE, are encoded by the same precursor and appear colocalized in nerve cells and in many instances within the projections. The precursor is designated pro-melanin-concentrating hormone (PMCH) (summary by Nahon et al., 1992 [PubMed 1572663]).[supplied by OMIM, Jan 2011] 12 12 12 q23.2 102254196 102255573 - 102590237 102591614 - 102196459 102197836 - 1580863;1624360;1642486;1642484;6480464 15363890;16002548 10037747;11122347;11274220;11404457;11416225;11478907;11483240;11839762;12106685;12176038;12220661;12477932;12885269;15546902;1572663;15870910;16754659;17541984;17640905;18498421;18650383;19068116;19086053;19893584;20888736;2149166;22295972;23462990;23667582;23884861;2834384;8188237;8326825;8770919;9191099 5367 P20382 ABBA01053230;AC087882;AMYH02027078;AV723033;BC018048;CB047053;CH471054;M57703;NM_002674;S63697 AAA63214;AAB27493;AAH18048;ABM83261;ABM86466;EAW97693;NP_002665;P20382 Hs.707990 1697068;1743535;2169181;2189409;2189507 D12S1939;D5F143S1;G73161;MARC_5061-5062:991939462:1;RH102014 MCH OTTHUMP00000243909;pro-MCH 1643258;1643266;1643270;1643277 BW198_H;BW201_H;BW203_H;BW205_H APPROVED protein-coding ENSG00000183395 HGNC:9109 01459 176795 VALIDATED 4144671 PMM2P2 phosphomannomutase 2 pseudogene 2 18 18 18 p11.21 12075470 12076201 - 12192202 12192933 - 12192203 12192934 - 646065 ABBA01074011;AMYH02034325;AP005264;NG_022477 pseudo HGNC:21753 INFERRED 1319677 PMM2 phosphomannomutase 2 The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008] 16 16 16 p13 9061062 9109970 + 8891670 8943194 + 8797813 8849337 + 1599132;1599134;1580863;6480464;6907045;7240710;8554872;8699517 10066032;11058896 10527672;10571956;10602363;10737800;10801058;10922383;11058895;11350185;11404002;11701646;11875054;11891694;11935250;12357336;12477932;12905014;13129599;15342340;15489334;15844218;17166182;17307006;17451957;17694350;18203160;19235233;20301289;20301507;20638314;20800603;21541725;21693764;21890473;21906983;22374380;22939629;22944692;23000965;23430200;23988505;24816145;25027693;7874123;8889548;9070917;9140401;9425221;9497260;9781039;9887379 5373 B7Z419;H3BM92;H3BNY9;H3BPH4;H3BR08;H3BRM0;H3BT06;H3BV34;H3BV55;O15305;Q59F02 AB209659;ABBA01019730;ABBA01019731;ABBA01019732;AC012173;AF157796;AK291537;AK296630;AK299979;AK300785;AK304320;AK311035;AK312532;AMYH02031408;AMYH02031409;BC008310;BF811414;BM973590;CH471112;DC366756;NG_009209;NM_000303;U85773;XM_005255372;XM_005255373;XM_005255374 AAC51368;AAD45895;AAH08310;BAD92896;BAF84226;BAG35431;BAH12405;BAH13187;BAH13346;BAH14158;EAW85200;EAW85201;EAW85202;EAW85203;NP_000294;O15305;XP_005255429;XP_005255430;XP_005255431 Hs.625732 1674859;1854128;2167309;5125243;5491627 MARC_26359-29406:1040140027:1;RH48187;SHGC-60564;SHGC-60763;STS-AA022584 CDG1;CDG1a;CDGS;PMI;PMI1;PMM 2 OTTHUMP00000160109;phosphomannose isomerase 1 APPROVED protein-coding ENSG00000140650 HGNC:9115 03472 212065;601785 REVIEWED 1347812 PMM2P1 phosphomannomutase 2 pseudogene 1 18 18 p11.22 10636667 10637398 + 10636670 10637401 + 9425221 390831;5374 ABBA01073980;AMYH02034297;AP001180;NG_022485 pseudo HGNC:9116 INFERRED 1316751 PMEL premelanosome protein This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011] 12 12 12 q13-q14 56000543 56012534 - 56347889 56360523 - 55954105 55971109 - 1580863;6480464 10504440;11266471;11549113;11694580;12135425;12477932;12643545;12732614;12819038;12925214;14632201;14702039;15001714;15096515;15489334;15695812;16344560;16492709;16516837;16682408;16704461;16760433;17081065;17303571;17625594;17991747;18029348;18181974;18337837;18463683;18552823;18563784;19017974;19047044;1922059;1924386;19666488;19840945;19884326;20231267;21106765;21148556;21247888;21804548;21949659;21993558;21993592;22092386;2255914;22613716;22951725;23389629;23452376;23643172;23754390;24040098;7519602;8022805;8179825;8592076;8617263;8739560;9176405;9222283;9586889;9743519 6490 F8VUB1;F8VXH8;F8VYZ1;F8VZC6;F8VZV2;F8W1D1;H0YIJ2;P40967 ABBA01008395;ABBA01008396;ABBA01008397;AC025162;AC034102;AK092881;AK130180;AK300150;AMYH02026556;AX274950;BC001414;BT007202;CA432578;CH471054;DA035117;DA633173;M32295;M77348;NG_028086;NM_001200053;NM_001200054;NM_006928;S73003;U01874;U20093;U31797;U31799;U31807;XM_006719568;XM_006719569 AAA18479;AAA35930;AAA60121;AAB00386;AAB19181;AAC60634;AAH01414;AAP35866;ABW03637;BAG52619;BAH13223;CAD10318;EAW96852;EAW96853;EAW96854;EAW96855;NP_001186982;NP_001186983;NP_008859;P40967;XP_006719631;XP_006719632 Hs.95972 1734012;1778245;1789819;2121414;2140056;2157357;2168254;2217252 D12S53E;DGKA_2719;RH45696;SHGC-5310;STS-D29052;STS-N23118;STS-X62535;csnpcdk2-pcr1-1 D12S53E;ME20;ME20-M;ME20M;P1;P100;PMEL17;Pmel 17;SI;SIL;SILV;gp100 Melanocyte protein mel 17;OTTHUMP00000244022;OTTHUMP00000244023;OTTHUMP00000244024;OTTHUMP00000244025;OTTHUMP00000244026;OTTHUMP00000244028;Silver, mouse, homolog of;melanocyte protein PMEL;melanocyte protein Pmel 17;melanocytes lineage-specific antigen GP100;melanoma-associated ME20 antigen;melanosomal matrix protein17;silver (mouse homolog)-like;silver homolog;silver locus protein homolog APPROVED protein-coding ENSG00000185664 HGNC:10880 01117 155550 REVIEWED 1316684 PMP2 peripheral myelin protein 2 ENCODES a protein that exhibits cholesterol binding; fatty acid binding; INVOLVED IN membrane organization (inferred); transport (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH etoposide; 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 8 8 8 q21.3-q22.1 78357520 78364678 - 82352561 82359719 - 81440326 81447484 - 1580863;6480464 11241848;12477932;15252450;15489334;1720307;20421974;23535730;24419389;2453513;2458918;6172423;6183401;6206203;7525873;8288226 5375 E5RH45;P02689 ABBA01004052;AC018616;AK307118;AK311758;AMYH02018314;BC034997;CF455669;CH471068;CR541649;CR541738;D16181;DQ786226;NM_002677;X62167 AAH34997;ABM82432;ABM82433;ABM85623;BAA03726;BAG34701;CAA44096;CAG46450;CAG46538;EAW87090;NP_002668;P02689 Hs.571512 1663652;2176062 D8S1917;STS-X62167 FABP8;M-FABP;MP2;P2 OTTHUMP00000227024;OTTHUMP00000227025;myelin P2 protein protein-coding ENSG00000147588 HGNC:9117 01366 170715 VALIDATED 1346872 PMPCA peptidase (mitochondrial processing) alpha ENCODES a protein that exhibits catalytic activity (inferred); metal ion binding (inferred); metalloendopeptidase activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); metabolic process (inferred); protein targeting to mitochondrion (inferred); FOUND IN extracellular space; mitochondrion; INTERACTS WITH cisplatin; cobalt dichloride; disodium selenite 9 9 9 q34.3 109819961 109833058 + 139305110 139318213 + 136410573 136423761 + 1580863;6480464 10942759;11256614;11840567;12477932;14702039;15188402;15231747;15489334;18029348;19615732;20186120;20467438;20877624;21139048;21890473;21906983;21963094;21987572;22505724;22939629;23128233;24654937;24816145;7788527;7836378;8590280;9299349 23203 Q10713;Q5SXN9 AA037280;ABBA01022708;AK091455;AK129769;AK296617;AK299304;AK307206;AK308104;AL592301;AMYH02021900;BC004342;BC022949;BC033103;BC111399;BC114360;BC132724;BC136599;CH471090;D21064;D50913;NM_001282944;NM_001282946;NM_015160;XM_005266059 AAH04342;AAH22949;AAH33103;AAI11400;AAI14361;AAI32725;AAI36600;BAA04643;BAA09472;BAC85231;BAG59225;BAG61317;EAW88232;NP_001269873;NP_001269875;NP_055975;Q10713;XP_005266116 Hs.495471 1683717;1684748;1690173;2109681;2144947;5015619;5015861;5015879;5020948;5037552;5109281;7185938 D10S16;D11S3114;D1S1425;D8S2279;G35510;GDB:314949;PMPCA_9317;RH25346;RH28528;RH98241;WI-6042 Alpha-MPP;FLJ26258;INPP5E;KIAA0123;MGC104197;P-55 OTTHUMP00000022572;inositol polyphosphate-5-phosphatase, 72 kD;mitochondrial matrix processing protease, alpha subunit;mitochondrial-processing peptidase subunit alpha protein-coding ENSG00000165688 HGNC:18667 07500 613036 VALIDATED 1346392 PMPS Pearson marrow pancreas syndrome 5377 HGNC:9120 69112 PMP22 peripheral myelin protein 22 This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 17 17 17 p12 15157676 15193224 - 15133094 15168674 - 15229777 15265357 - 1358786;1358560;1580863;1358785;6480464;7240710;8554872;8699517 1556154;9040744;9409359 10211478;10212299;10330345;10489052;10632107;10663978;10697408;10704444;10737979;10806367;10982389;11140841;11438991;11456309;11545686;11835375;12119418;12207933;12211648;12402337;12439896;12477932;12497641;12578939;12796555;12823620;1297450;1303210;1303228;1303229;1303231;1303281;1349106;14581692;14709540;1497668;15050444;15083696;15099590;15099592;15205993;15489334;1552536;1552542;15555916;15564036;15755691;15786462;15891642;15955700;16199442;16215943;16326107;16436605;16437560;16463004;16481890;16683188;1677316;16912585;1721895;17620487;17707409;17824619;17917930;1822787;18353535;1835375;18438698;18592125;18642376;18698610;18795802;19259128;19290556;19322201;19447823;19493167;19705173;19830275;19888301;19909487;19913121;19930872;20093502;20301384;20301532;20301566;20453308;20538960;20571287;20628086;20842290;21159173;21194947;21252112;21337347;21429232;21518455;21590514;21666788;21670407;21692910;21827951;21988832;22000434;22006697;22131320;22180461;22243284;22765307;23224996;23243264;23279344;23291589;23468528;23635862;23639031;23689413;23740413;23743332;24078732;24321297;24812204;7518101;7675244;7728152;7762451;7825607;7929285;8012388;8105684;8252046;8275092;8422677;8482547;8500795;8510709;8541860;8615087;8655153;8777804;8786387;8988161;8995589;9004143;9040737;9055797;9187667;954484;9544841;9585367;9633821;9712007;9748013;9888385 5376 A8MU75;J3KQW0;J3KT36;J3QS08;Q01453;Q6FH25 ABBA01055039;ABBA01055040;AC005703;AF059314;AK290640;AK300690;AL833462;AMYH02033048;BC019040;BC091499;BF725606;BG424796;BQ212717;BQ232542;BQ694106;BX464118;CD519144;CH471108;CK818720;CR541931;CR541953;D11428;DB466564;DB504971;DV460945;HY099893;HY119295;L03203;M94048;NG_007949;NM_000304;NM_001281455;NM_001281456;NM_153321;NM_153322;NR_104017;NR_104018;U08049;U08096;X65968 AAA36457;AAA58495;AAH19040;AAH91499;ABM83549;ABM86789;BAA01995;BAF83329;BAG62373;CAA46781;CAG46729;CAG46751;EAW89946;EAW89947;EAW89948;EAW89949;NP_000295;NP_001268384;NP_001268385;NP_696996;NP_696997;Q01453 Hs.372031;Hs.658306 1339796;1723413;1725577;1743455;1743457;1743459;1743461;1743463;1768177;1792550;1796532;1857373;2154811;2155376;2181728;5119941 D17S2006;D17S918;G10646;G62085;GDB:189307;GDB:335795;GDB:335798;GDB:335801;GDB:335804;GDB:335807;PMC153757P2;PMP22_384;RH118519;SHGC-11715;STS-D11428;WI-18423 CMT1A;CMT1E;DSS;GAS-3;HNPP;MGC20769;PMP-22;Sp110 HMSNIA;OTTHUMP00000064922;OTTHUMP00000064923;OTTHUMP00000064924;growth arrest-specific 3;growth arrest-specific protein 3 APPROVED protein-coding ENSG00000109099 HGNC:9118 03059 118220;118300;139393;145900;162500;180800;601097 REVIEWED 1349068 PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 184243739 184337288 + 190648710 190742355 + 189784085 189877629 + 1599137;1580863;2306716;2306714;2324870;6480464;7240710 11900875;15856462;18157157;8072530 10459502;10480359;10748159;10828585;11292842;11809883;11999575;12477932;12799449;15226443;16136382;16774946;17148452;17494052;18364438;18484899;18676680;18723338;19012493;19064572;19115210;19170196;19237606;19430479;19609347;19625176;19692168;20004149;20301390;20414254;20496165;20603015;20603073;21906983;22589738;23251661;23608172;24250222;24816145;7980603;8128251;8666228;8889548;9500994 5378 B4DIH7;B4DMF4;B7ZAA0;C9J4L1;C9JF76;C9JKP0;E9PC40;E9PC65;E9PH88;F8W8L1;I6L9H5;P54277;Q3BDU3;Q5FBZ7;Q5XG96 AB006462;AB102869;AB102870;AB102871;AB102872;AB102873;AB102874;AB102875;AB102876;AB102877;ABBA01062380;ABBA01062381;AC008122;AC013468;AK295602;AK297440;AK304634;AK308311;AK316215;AMYH02005430;AMYH02005431;AMYH02005432;AMYH02005433;AY267352;AY540750;AY540751;BC008410;BC036376;BC084548;BC096330;BC096331;BC096332;BG195153;BG214666;BM553209;BM677668;BM800196;BT006947;CH471058;CR749432;CV570894;DC347859;NG_008648;NM_000534;NM_001128143;NM_001128144;NM_001289408;NM_001289409;NR_110332;U13695;XM_005246647;XM_005246649;XM_006712596 AAA63922;AAH84548;AAH96330;AAH96331;AAH96332;AAO89079;AAP35593;ABB04019;ABB04020;BAD89398;BAD89399;BAD89400;BAD89401;BAD89402;BAD89403;BAD89404;BAD89405;BAD89406;BAG58489;BAG59866;BAG65413;BAH14586;CAH18270;EAX10883;EAX10884;EAX10885;NP_000525;NP_001121615;NP_001121616;NP_001276337;NP_001276338;P54277;XP_005246704;XP_005246706;XP_006712659 Hs.111749 1679722;1744931;1788552;1788554;1788556;1788558;1788560;2114851;2127577;5020948 D2S2027;G35510;G67535;G67579;G67580;G67581;G67582;GDB:581629;RH93649;SGC38239 DKFZp781M0253;FLJ98259;HNPCC3;PMSL1;hPMS1 DNA mismatch repair protein PMS1;OTTHUMP00000163499;OTTHUMP00000205716;OTTHUMP00000205717;OTTHUMP00000205720;OTTHUMP00000205723;OTTHUMP00000205724;OTTHUMP00000205725;PMS1 protein homolog 1;human homolog of yeast mutL;mismatch repair gene PMSL1;rhabdomyosarcoma antigen MU-RMS-40.10B;rhabdomyosarcoma antigen MU-RMS-40.10E 2303086 MAMTS44_H APPROVED protein-coding ENSG00000064933 HGNC:9121 02597 600258 REVIEWED 733027 PMPCB peptidase (mitochondrial processing) beta This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 97745096 97762356 + 102937873 102970349 + 103297426 103329902 + 1298632;1580863;6480464 9653160 10545606;10942759;11042152;12186850;12477932;12853948;14702039;15342556;15489334;16169070;19580345;20186120;20877624;21890473;21906983;22354088;22939629;24583282;24654937;25027693;9700204 9512 B3KM34;F8WAZ6;F8WBE1;F8WEA6;F8WEC8;G3V0E4;O75439;Q96CP5 ABBA01057991;AC004668;AF054182;AI261792;AK000994;AK057656;AK090763;AK098616;AK289864;AK297354;AK309928;AL050216;AMYH02016449;BC010398;BC014079;BP311561;BQ021474;CH471070;NM_004279;XM_005250717;XM_006716181;XR_242267 AAC39915;AAH14079;ABM83839;ABM87161;BAF82553;BAG50846;BAG51947;BAG59802;CAB43319;EAW83325;EAW83326;EAW83327;EAW83328;NP_004270;O75439;XP_005250774;XP_006716244 Hs.184211 1690802;1700688;1770441;2151274;2169517;5107155 G67883;RH103967;RH71304;RH79996;SHGC-54619;WI-14926 Beta-MPP;MPP11;MPPB;MPPP52;P-52 OTTHUMP00000211704;OTTHUMP00000211708;mitochondrial processing peptidase beta;mitochondrial processing peptidase beta subunit;mitochondrial-processing peptidase subunit beta APPROVED protein-coding HGNC:9119 07539 603131 REVIEWED 1354080 PMS2L11 postmeiotic segregation increased 2-like 11 pseudogene ENCODES a protein that exhibits kinase activity (inferred); INVOLVED IN mismatch repair (inferred); phosphorylation (inferred); FOUND IN mismatch repair complex (inferred); INTERACTS WITH carmustine; tert-butyl hydroperoxide 7 7 q11.23 70004905 70011909 - 76610139 76653078 + 1580863;6480464 12477932;15342556;20935630;7980603;8586419;9344666 441263 Q13670 AC007000;AC114737;BC015750;BP230837;NG_026599;NR_023383;U38980 AAA97460 Hs.675888 PMSR6 postmeiotic segregation increased 2-like 11 pseudo HGNC:9125 VALIDATED 1313536 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p22.2 5957552 5958444 - 6012870 6048737 - 5973239 6009106 - 1599141;1599142;1599137;1580863;2315025;2306716;2315028;2293505;2315026;2306714;6480464;6907045;7240710;8554872;8699517 10763829;11900875;16472587;17394628;18157157;18723338;19124481;19692168;8072530 10037723;10072354;10480359;10748159;10783165;10871409;10954713;11292842;11427529;11429708;11793469;11809883;11897781;11948175;12477932;12584560;12601175;12684669;12799449;12810663;12853948;14676842;14756672;14871975;15077197;15225546;15226443;15256438;15342556;15887099;16042583;16116158;16166421;16344560;16403449;16507833;16740762;16774946;16885385;16964243;17016615;17029773;17044039;17148452;17312306;17417778;17493242;17557300;17581638;17653898;17851451;18030674;18178629;18206974;18270339;18273873;18307725;18364438;18376293;18602922;18619468;18676680;18768816;18824584;18841495;19015241;19064572;19115210;19132747;19155293;19170196;19237606;19244167;19479271;19515846;19526325;19536092;19625176;19672700;19703417;19707776;19730683;19863800;19898223;20029092;20056646;20129926;20178594;20186689;20301390;20379614;20403997;20453000;20496165;20533529;20603015;20603073;20632815;20698049;20706999;20978114;21139048;21204794;21247423;21261604;21348638;21376568;21425258;21559014;21571466;21890473;21911971;22145025;22461402;22577899;22585707;22939629;23000965;23012243;23017166;23042605;23288611;23434150;23499907;23709753;23788249;23981578;24072394;24250222;24323032;24400091;24444820;24643686;24816145;7661930;8586419;8666379;8889548;9000555;9419979 5395 C9J167;P54278 AB103082;AB103083;AB103085;AB103086;ABBA01029370;ABBA01029371;ABBA01029372;ABBA01029373;AC005995;AI433648;AK294661;AK312390;AMYH02015162;AMYH02015163;BC008400;BC031832;BC093921;BC143397;BM669686;BP251389;BQ050630;BX537558;CH878731;CR981250;DA774159;DB527312;NG_008466;NM_000535;NR_003085;U13696;U14658;XM_006715742;XM_006715743;XM_006715744 AAA50390;AAA63923;AAH93921;AAS00390;BAD89425;BAD89426;BAD89428;BAD89429;BAG35307;BAG57831;CAD97782;EAW55055;NP_000526;P54278;XP_006715805;XP_006715806;XP_006715807 Hs.632637 1772883;1788120;1788122;1788124;1788126;1788128;1788130;1846702;1847957;2114949;2165689;5109281;7186607;7187506 D1S1425;D7S2083E;G67272;G67273;G67274;G67275;G67276;G67277;PMS2;SHGC-30972;SHGC-31701;SHGC-55948 HNPCC4;PMS2CL;PMSL2 DNA mismatch repair protein PMS2;H_DJ0042M02.9;OTTHUMP00000115837;OTTHUMP00000201307;OTTHUMP00000201308;PMS1 protein homolog 2;mismatch repair endonuclease PMS2 APPROVED protein-coding ENSG00000122512 HGNC:9122 02598 276300;600259;614337 REVIEWED 1317924 PMEPA1 prostate transmembrane protein, androgen induced 1 This gene encodes a transmembrane protein that contains a Smad interacting motif (SIM). Expression of this gene is induced by androgens and transforming growth factor beta, and the encoded protein suppresses the androgen receptor and transforming growth factor beta signaling pathways though interactions with Smad proteins. Overexpression of this gene may play a role in multiple types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 20 20 20 q13.31-q13.33 52963835 53026924 - 56223448 56286592 - 57648392 57711536 - 1580863;2315106;2315108;2315107;6480464;8554872 11568975;12907594;14639658 10873380;11042109;11780052;12477932;12670906;15489334;16341674;16713569;17318295;18174752;18703514;19460752;20467438;20610632;21139048;21145461;21341270;21963094;23000965;23149075;23251661;23284715;23615405;24438557 56937 A2A2F4;A2A2F5;Q5JY37;Q969W9 ABBA01052931;ABBA01052932;ABBA01052933;AF224278;AF305426;AF305616;AJ308020;AJ308021;AK024618;AK296199;AL035541;AL121913;AL161943;AL732104;AL732105;AMYH02037355;AY128643;BC015918;BC025361;BC080635;BM846677;BQ008707;BQ690750;BU196912;CH471077;NG_031951;NM_001255976;NM_020182;NM_199169;NM_199170;NM_199171 AAF86322;AAH15918;AAH80635;AAL09357;AAL16781;AAM89277;BAG58927;EAW75504;EAW75505;EAW75506;EAW75507;EAW75508;NP_001242905;NP_064567;NP_954638;NP_954639;NP_954640;Q969W9 Hs.517155 1682399;2118836;2132772;2132774;2158736;2166884;2191719 A001Z16;G19813;MARC_5563-5564:1031676346:1;RH47916;RH75521;STS-F01898;Z94435 STAG1 OTTHUMP00000031379;OTTHUMP00000031380;OTTHUMP00000174282;OTTHUMP00000174283;OTTHUMP00000174284;OTTHUMP00000174285;TMEPAI;solid tumor-associated 1 protein;transmembrane prostate androgen-induced protein;transmembrane, prostate androgen induced RNA APPROVED protein-coding ENSG00000124225 HGNC:14107 09415 606564 REVIEWED 1603323 PMS2L2 postmeiotic segregation increased 2-like 2 pseudogene INVOLVED IN mismatch repair (inferred); FOUND IN mismatch repair complex (inferred); INTERACTS WITH (+)-catechin; cobalt dichloride; tert-butyl hydroperoxide 7 7 7 q11.23 94653128 94663246 - 74973159 74988251 - 75343937 75358997 - 6480464 10101297;12477932;16344560;7980603;8586419;9847074 5380 O95744;O95745 AA282042;AA418026;AB017006;AC004980;AC006014;AC006972;AC007000;AC007003;AC211486;DA215155;DA735387;NR_003614 BAA74755 Hs.292996;Hs.661055 1673530;1683349;1689225;1693166;1703532;1704360;1715683;1719459;1724875;1753859;1786494;1786512;1790429;1855941;2114756;2115628;2116021;2148996;2156163;2157980;2161244;2163092;2167953;2175463;2175722 AF021119;AL034312;D7S1622;D7S2023;D7S2308;D7S2322;D7S2875;D7S3287;G04628;G09789;GDB:1317498;GDB:1317850;GDB:1318645;RH119202;RH119288;RH123448;RH40786;RH80735;SHGC-108038;SHGC-78171;SHGC-81308;SHGC-82722;SHGC-85508;STS-U10099;ZP3A PMS4 pseudo HGNC:9127 17865 VALIDATED 1345139 PMS2L8 postmeiotic segregation increased 2-like 8 q22 1580863 8586419 5386 U38964 AAA97458;Q13400 PMSR2 protein-coding HGNC:9133 1353301 PMS2L7 postmeiotic segregation increased 2-like 7 8586419 5385 HGNC:9132 1354429 PMS2LP2 postmeiotic segregation increased 2-like pseudogene 2 8586419 5392 HGNC:9136 2291758 PMS2CL PMS2 C-terminal like pseudogene INTERACTS WITH torcetrapib 7 7 p22.1 6774936 6791232 + 6735305 6751601 + 6480464 12477932;15256438;17253626;24324551 441194 Q68D20 AB116525;ABBA01056505;ABBA01056506;ABBA01056507;AC073343;AMYH02015182;BC041364;CR749616;NR_002217 BAC81643;CAH18410;Q68D20 Hs.715590 1772883;1788120;1788122;1788124;1788126;1846702;2165689;7186607;7187506 D7S2083E;G67273;G67274;G67275;G67276;PMS2;SHGC-55948 PMS2P13 pseudo ENSG00000187953 HGNC:30061 PROVISIONAL 1345145 PML promyelocytic leukemia The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 15 15 15 q22 51164334 51230308 + 74287014 74340160 + 73994673 74047819 + 1580863;6480464;6484113;6907045;8554872 10077561;10525530;10597310;10610177;10620019;10629064;10669754;10684855;10779416;10806494;10882117;10910364;10938104;11025664;11050004;11080164;11112690;11158586;11160742;11175338;11244500;11259576;11331580;11430826;11430827;11432836;11500381;11572863;11575918;11585900;11704850;11704853;11832207;11891284;11907221;11940591;11948183;12006491;12032336;12032831;12060771;12080044;12093737;12142048;12150977;12167712;12186918;12234245;123456;12354770;12384561;12402044;12419228;12438698;12477932;12505266;12506013;12506025;12540841;12595526;12610143;12622724;12641448;12647219;12691149;12717420;12727882;12759344;12773567;12810724;12837286;12907596;12915590;12917339;12935927;12950020;1311253;1312695;14507915;14522971;14526201;14528266;14534537;14597622;14597990;14630830;14645235;14663483;14702039;14715247;14970191;14970276;14976184;14976551;14992722;15017387;15060166;15096541;15136035;15163746;15184504;15194430;15195100;15231068;15273249;15331439;15350595;15356634;15359634;15459016;15467728;15561718;15569683;15576338;15589835;15601827;15626733;15707587;15735755;15746941;15749021;15809060;15833741;15855159;15922731;15940266;1594241;15968309;16007146;16113082;16154098;16154611;16307818;16412420;16432238;16449642;16449650;16501113;16501610;1652368;1652369;16540467;16630218;16778193;16797070;16818720;16873060;16873256;16873257;16909106;16912307;16915281;16916642;16924230;16935935;17000644;17000875;17027752;17030982;17036045;17060459;17062732;17081983;17081985;17081986;17146439;17172828;17173041;1720570;17332504;17344210;17360386;17419608;17428679;17441430;17475621;17543368;17560333;17562868;17767548;17822314;17823119;17878236;17942542;17943164;17960172;17991421;17996922;18024792;18029348;18039859;18056407;18073335;18158568;18160400;18212063;18246125;18246126;18248090;18298799;18408014;18408734;18463162;18474224;18480450;18511908;18566754;18621739;18625722;18636556;18644863;18664490;18689862;18691969;18708055;18716620;18755984;18809579;18812519;18833293;18856066;18945770;19015637;19023333;19029980;19074885;19100514;19111660;19150978;19164952;19177012;19204783;19217413;19224461;19322209;19325566;19339552;19380586;19471022;19487292;19553342;19553542;19556897;19567472;19597475;19690564;19703418;19728758;19750561;19808906;19851296;19861416;19863682;19865110;20075864;20097304;20100838;20123968;20130140;20133705;20133893;20155840;20159609;20159610;20181954;20188669;20198315;20211142;20228380;20379614;20389280;20409569;20501696;20544846;20574048;20578240;20625391;20639899;20699642;20719947;20797634;20800603;20826694;20832753;20881960;20972455;20972456;21037079;21042751;21044950;21057547;21092142;21098080;21115099;21139048;21145359;21148299;21161613;21172801;21187718;21192925;21198351;21205865;21217775;21240990;21245861;21252943;21304169;21304940;21305000;21310922;21360626;21364283;21430051;21474068;21482821;21489587;21529941;21613260;21623375;21639834;21678421;21693764;21704408;21752469;21779164;21803845;21822266;21832009;21840486;21890473;21900687;21906983;21921037;21934296;21963094;21988832;21994459;21998700;22013068;22022583;22033920;22037423;22045732;22117195;22155184;22237204;22296450;22388745;22406621;22412018;22493164;22498738;22505724;22573317;22578841;22589541;22711534;22773875;22869143;22875967;22886304;22906876;22915647;22918509;22945642;22947142;22982005;22990118;23000965;23007646;23028697;23049088;23064710;23092969;23135708;23219818;23220564;23221561;23222847;23430110;23440206;23448850;23492774;23530056;23542129;23543742;23563092;23604351;23620081;23752268;23768491;23770850;23830076;23935871;24009715;24038216;24089549;24101171;24190887;24407287;24500717;24548562;24586174;24615016;24637324;24654937;24816145;24882209;24907272;25015289;25027693;7729428;7780148;7935403;8274203;8380300;8394219;8643677;8806687;9230084;9294197;9395203;9412458;9420283;9427741;9448006;9452416;9570750;9583681;9671405;9671498;9756909;9819401;9885291 5371 H3BRN3;H3BT29;H3BT57;H3BUJ5;H3BVD2;P29590 AB208950;AB209051;AB209411;ABBA01038703;ABBA01038704;AC013486;AC108137;AF230401;AF230402;AF230403;AF230404;AF230405;AF230406;AF230407;AF230408;AF230409;AF230410;AF230411;AF370432;AK026871;AK096663;AK300256;AMYH02030783;AMYH02030784;BC000080;BC020994;BC034251;BC139795;BF510860;BT009911;BX647287;CH471082;M73778;M79462;M79463;M79464;M80185;NG_029036;NM_002675;NM_033238;NM_033239;NM_033240;NM_033244;NM_033246;NM_033247;NM_033249;NM_033250;S50913;S51489;S68527;X63131;X64800 AAA60125;AAA60351;AAA60352;AAA60388;AAA60390;AAB19601;AAB29490;AAD13865;AAG50180;AAG50181;AAG50182;AAG50183;AAG50184;AAG50185;AAG50186;AAG50187;AAG50188;AAG50189;AAG50190;AAH00080;AAH20994;AAI39796;AAP88913;AAQ15268;BAD92187;BAD92288;BAD92648;BAG62021;CAA44841;CAA46026;EAW77946;EAW77947;NP_002666;NP_150241;NP_150242;NP_150243;NP_150247;NP_150249;NP_150250;NP_150252;NP_150253;P29590 Hs.526464 1697902;1742945;2109679;2141521;2144794;2153922;2166067;2181801;2184287;5015404;5015619;5016478;5016851;5020946;5022651;5024413;5037552;5094304 A005A21;D11S2921;D11S3114;D15S1281;D15S1326;D8S2279;G54700;GDB:216830;GDB:434012;L17705;L17877;L17971;PML_3408;RH102479;RH44486;RH80031;SGC31521;STS-N93133 MYL;PP8675;RNF71;TRIM19 OTTHUMP00000174946;OTTHUMP00000174961;OTTHUMP00000174962;OTTHUMP00000174963;RING finger protein 71;probable transcription factor PML;promyelocytic leukemia protein;promyelocytic leukemia, inducer of;tripartite motif protein TRIM19;tripartite motif-containing protein 19 APPROVED protein-coding ENSG00000140464 HGNC:9113 00023 102578 REVIEWED 1342554 PMS2P10 postmeiotic segregation increased 2 pseudogene 10 7 q11.23 74925017 74928923 - 8586419;9847074 100288713 AC004878;AC211486;NG_023454 PMS2L10;PMSR4 APPROVED pseudo HGNC:9124 INFERRED 1351398 PMS2P12 postmeiotic segregation increased 2 pseudogene 12 7 7 7 q22.1 96989576 96991377 + 101977726 101979560 + 102337315 102339116 + 12690205;9799793 392713 ABBA01011292;AC005088;AC091390;AF030453;AMYH02016435;NG_009900 2114949 SHGC-30972 PMS2L12;PMSL12 APPROVED pseudo HGNC:13641 INFERRED 1606835 PMS2P3 postmeiotic segregation increased 2 pseudogene 3 ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN mismatch repair (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN mismatch repair complex (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; copper(2+) sulfate 7 7 7 q11.23 70004871 70025253 - 75137069 75157453 - 75507747 75528123 - 6480464 10737800;12477932;20819778;7980603;8586419 5387 Q13401;Q16603 ABBA01005872;ABBA01005873;AC018720;AC211429;BC007683;BC014421;BC046153;BC087844;BC101598;BC143635;BE938866;CH471220;D38437;D38498;NR_028059;U38979 AAA97459;AAI01599;BAA07472;BAA07510;EAW71765;EAW71766;Q13401 Hs.659871;Hs.661055 MGC126647;PMS2L3;PMS2L9;PMS5;PMSR3 APPROVED pseudo ENSG00000127957 HGNC:9128 17866 VALIDATED 1354240 PMS2P5 postmeiotic segregation increased 2 pseudogene 5 INVOLVED IN mismatch repair (inferred); FOUND IN mismatch repair complex (inferred); INTERACTS WITH arsenous acid; atrazine; benzo[a]pyrene diol epoxide I 7 7 7 q11.23 71059446 71060147 + 74306887 74336166 + 74890768 74921138 + 1580863;6480464 10737800;12477932;7980603;8586419 5383 A8MQ11;Q7Z7L0 AA621085;AC004166;AC211424;AK309660;BC027480;BC052588;BF848566;BF984173;BX116204;D38436;D38439;D38501;D38502;DW407867;NR_027775;NR_027776;NR_027777 A8MQ11;AAH52588;AAI52851;BAA07471;BAA07474;BAA07513;BAA07514 Hs.292996;Hs.647025 1676138;5113775;5127400 RH46934;RH71228;RH79612 MGC34222;PMS2L5;PMS7 APPROVED pseudo HGNC:9130 17867 VALIDATED 1345112 PMS2P9 postmeiotic segregation increased 2 pseudogene 9 7 7 7 q11.23 60132984 60146527 - 76668797 76682355 + 77039480 77053038 + 16341674;8586419 100132832;5391 AC007000;AMYH02016096;BM845848;NR_028058 Hs.292996;Hs.729355 PMS2L17;PMS2LP1;PMSR5 APPROVED pseudo HGNC:9135 PROVISIONAL 1349996 PMS2P4 postmeiotic segregation increased 2 pseudogene 4 INTERACTS WITH 5-fluorouracil 7 7 7 q11.22 60139061 60149046 - 66741118 66767429 - 67276131 67302442 - 1580863;6480464 12477932;16344560;16712791;16913423;7980603;8586419 5382 Q16544 ABBA01005871;ABBA01005872;AC006480;AMYH02015920;BC029368;BC029419;BC038841;CB141754;D38438;D38500;DA885243;NR_022007;NR_046297;NR_046299 BAA07473;BAA07512 Hs.712714 2114949;2155963 RH36140;SHGC-30972 PMS2L4;PMS6 APPROVED pseudo HGNC:9129 VALIDATED 1352973 PMS2P1 postmeiotic segregation increased 2 pseudogene 1 ENCODES a protein that exhibits kinase activity (inferred); INVOLVED IN mismatch repair (inferred); phosphorylation (inferred); FOUND IN mismatch repair complex (inferred); INTERACTS WITH cobalt dichloride; tert-butyl hydroperoxide 7 7 7 q22.1 94648034 94663700 - 99918263 99933930 - 100320640 100336307 - 1580863;6480464 10101297;12477932;12690205;15077197;16344560;22939629;22990118;24816145;7980603;8586419 5379 A4D2B8;Q16590 AB017004;ABBA01013219;AC005071;AMYH02016377;BC038996;BC044214;BC067809;BC110395;CH236956;CH471091;D38435;D38499;DA706474;NR_003613;U38964 A4D2B8;AAA97458;BAA07470;BAA07511;BAA74753;EAL23838;EAL23839;EAL23840;EAL23842;EAW76559 Hs.634244;Hs.661055;Hs.703626 1676138;5095925;5097033;5113775;5127400 GDB:4584991;RH119103;RH46934;RH71228;RH79612 PMS2L1;PMS2L13;PMS2L6;PMS2L7;PMS2L8;PMS3;PMS8;PMSR1;PMSR2 APPROVED pseudo HGNC:9123 605038 PROVISIONAL 3277649 PMS2P6 postmeiotic segregation increased 2 pseudogene 6 7 7 q11.23 74953039 74956948 - 73093655 73097568 + 10101297;9847074 729453 AB017005;AC004878;AC211476;NG_006449 BAA74754 Hs.661055 PMS2L14 APPROVED pseudo HGNC:33514 INFERRED 3322123 PMS2P8 postmeiotic segregation increased 2 pseudogene 8 7 7 q11.23 72507939 72511870 + 73037384 73041422 + 10101297;9847074 729299 AB017007;AC005488;AC006995;AC211476;NG_006447 BAA74756 Hs.661055 PMS2L16 APPROVED pseudo HGNC:33516 INFERRED 3277560 PMS2P7 postmeiotic segregation increased 2 pseudogene 7 7 7 q11.23 72476588 72483807 + 73006065 73013278 + 8586419;9344666;9847074 100101440 AC005488;AC211476;NG_006451 PMS2L15;PMS2LP2;PMSR7 APPROVED pseudo HGNC:33515 INFERRED 1605290 PNCK pregnancy up-regulated nonubiquitous CaM kinase PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2008] X X X q28 153168872 153173500 - 152935188 152939816 - 153669733 153686683 - 6480464;8554872 10673339;11034105;12477932;15489334;18029348;18562482;21325639;23634203;8889548 139728 C9J2B9;C9J8P0;C9JB09;C9JEC5;C9JJ18;F8WAQ5;F8WBU7;H7BZQ5;Q6P2M8 ABBA01045371;AK296067;AK296165;AK296203;AK303746;AK309148;AK309159;AK316402;AMYH02040840;BC033746;BC064422;CF890832;CH471172;DC383841;KF459517;NM_001039582;NM_001135740;U52111;XM_005274651;XM_006724807;XM_006724808;XM_006724809 AAH64422;ABM82972;ABM86166;BAG58826;BAG58903;BAG58930;BAG64718;BAH14773;EAW72834;EAW72835;EAW72836;EAW72837;EAW72838;EAW72839;EAW72840;EAW72841;EAW72842;EAW72843;EAW72844;EAW72845;NP_001034671;NP_001129212;Q6P2M8;XP_005274708;XP_006724870;XP_006724871;XP_006724872 Hs.436667 1676854 D11S970 BSTK3;CaMK1b;FLJ50403;FLJ50549;FLJ56451;FLJ59811;MGC45419 OTTHUMP00000025963;OTTHUMP00000025964;OTTHUMP00000025966;OTTHUMP00000025967;OTTHUMP00000025968;OTTHUMP00000025971;OTTHUMP00000206947;caM kinase I beta;caM kinase IB;caM-KI beta;caMKI-beta;calcium/calmodulin-dependent protein kinase type 1B;pregnancy up-regulated non-ubiquitously expressed CaM kinase;pregnancy up-regulated non-ubiquitously-expressed CaM kinase;pregnancy upregulated non-ubiquitously expressed CaM kinase APPROVED protein-coding ENSG00000130822 HGNC:13415 300680 VALIDATED 8157872 PNKDP1 PNKD pseudogene 1 X X 130937336 130937769 - 131803308 131803741 - 100506715 ABBA01042167;AL008629;AMYH02040497;NG_030161 pseudo HGNC:49628 INFERRED 1321931 PMVK phosphomevalonate kinase This gene encodes a peroxisomal enzyme that catalyzes the conversion of mevalonate 5-phosphate into mevalonate 5-diphosphate, the fifth reaction of the cholesterol biosynthetic pathway. Studies in rat show that the message level and the enzyme activity of this protein is regulated by sterol, and that this regulation is coordinated with 3-hydroxy-3-methylglutaryl coenzyme A reductase, the rate-limiting enzyme of cholesterol biosynthesis. [provided by RefSeq, Sep 2011] 1 1 1 q22 127968233 127980509 - 154897208 154909484 - 154924732 154937008 - 1580863;2316857;6480464;6907045 16876788 10191291;12477932;14680974;14729858;15489334;16519518;17180682;17353931;17902708;18618710;18660489;18798562;19056867;19913121;19946888;20628086;21139048;21890473;21906983;22544366;22939629;23000965;23535732;24097068;24816145;25015289;8188698;8663599 10654 Q15126;Q6FGV9 ABBA01016725;ABBA01016726;AF026069;AK130234;AK312803;AL451085;AMYH02001935;BC006089;BC007694;BF221848;BQ061044;BT019976;CH471121;CR541998;L77213;NM_006556 AAC37593;AAC60791;AAH06089;AAH07694;AAV38779;ADZ15843;BAG35661;CAG46795;EAW53177;EAW53178;NP_006547;Q15126 Hs.30954 1846692 WI-14846 PMK;PMKA;hPMK HUMPMKI;OTTHUMP00000035546;PMKASE APPROVED protein-coding ENSG00000163344 HGNC:9141 07404 607622 VALIDATED 7241953 PNLIPP1 pancreatic lipase pseudogene 1 10 10 10 112067263 112071767 + 118337966 118342470 + 116578454 116582958 + 100419068 ABBA01062955;AL731653;AMYH02023874;NG_025542 1717175 RH121510 pseudo HGNC:45264 INFERRED 1344743 PNKP polynucleotide kinase 3'-phosphatase This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010] 19 19 19 q13.3-q13.4 47233911 47240265 - 50364460 50370840 - 49861203 49867565 - 1332584;1580863;6480464;7240710;8662352;8554872;8699517 10446192;20192759 10446193;11163244;12032095;12477932;14556639;15057824;15066279;15231748;15260972;15367657;15385968;15489334;15635413;16189514;16364363;17081983;17353931;17638872;17650498;18029348;18414202;19155274;19946888;20118933;20226869;20522537;20574454;20852255;21139048;21353781;21824916;21832049;21988832;22130663;22171004;22174317;22242598;22508754;22939629;22992732;23224214;23455924;23883586;24332808;24457600 11284 M0QX49;M0QYH2;M0QYI1;M0R000;M0R097;M0R3C8;Q96T60 AA640353;ABBA01032908;AC018766;AC118341;AF120499;AF125807;AF126486;AF354258;AMYH02036332;AY133033;BC002519;BC009339;BC013034;BC033822;BU541073;CH471177;NG_027717;NM_007254 AAD47379;AAD50639;AAD51135;AAF44716;AAH02519;AAH33822;AAK57340;AAM82170;ABM81732;ABM84887;EAW52565;EAW52566;EAW52567;NP_009185;Q96T60 Hs.78016 1676053 RH92224 EIEE10;MCSZ;PNK DNA 5'-kinase/3'-phosphatase;Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP);bifunctional polynucleotide phosphatase/kinase;polynucleotide kinase 3-prime-phosphatase;polynucleotide kinase-3'-phosphatase APPROVED protein-coding ENSG00000039650 HGNC:9154 09284 605610;613402 REVIEWED 1316570 PNISR PNN-interacting serine/arginine-rich protein ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN cytoplasm; nucleus; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 6 6 6 q16.3 100491988 100517359 - 99846534 99873263 - 99398054 99425395 - 6480464 12477932;14574404;14578391;14702039;15302935;15489334;16344560;17081983;20936779;21988832;24250222;24816145 25957 Q8TEZ9;Q8TF01 ABBA01014481;ABBA01014482;ABBA01014483;AF161379;AF161424;AF314184;AF314185;AF314186;AJ420559;AJ420570;AK027658;AK027759;AK027898;AK074628;AK291155;AL080186;AL513550;AMYH02014182;BC007791;BC012780;BC019074;BC024655;BC033061;BC042850;BC052638;BC064413;BC064640;BC107700;BX648520;CH471051;DA208838;NM_015491;NM_032870;XM_005266912;XM_005266913;XM_005266914;XM_005266915;XM_005266916;XM_005266917;XM_006715450;XM_006715451;XM_006715452 AAF28939;AAF28984;AAH07791;AAH12780;AAH19074;AAH42850;AAH52638;AAH64413;AAH64640;AAI07701;AAI72321;AAL76163;AAL76164;AAL76165;BAB55273;BAB55350;BAB55440;BAC11098;BAF83844;CAB45767;EAW48475;EAW48476;EAW48477;EAW48478;EAW48479;EAW48480;EAW48481;NP_056306;NP_116259;Q8TF01;XP_005266969;XP_005266970;XP_005266971;XP_005266972;XP_005266973;XP_005266974;XP_006715513;XP_006715514;XP_006715515 Hs.520287;Hs.644863 1661225;1664658;1754103;1797096;2132762;2140604 D6S2112;DKFZp564B0769;RH46368;RH46722;RH46784;SHGC-132137 C6orf111;DKFZp564B0769;FLJ14752;FLJ14853;FLJ14992;FLJ90147;HSPC306;MGC104269;RP11-98I9.2;SFRS18;SRrp130;bA98I9.2 OTTHUMP00000016890;OTTHUMP00000016891;SR rich protein;SR-related protein;SR-rich protein;arginine/serine-rich protein PNISR;serine-arginine-rich-splicing regulatory protein 130;serine/arginine-rich-splicing regulatory protein 130;splicing factor, arginine/serine-rich 130;splicing factor, arginine/serine-rich 18 APPROVED protein-coding ENSG00000132424 HGNC:21222 10787 VALIDATED 732485 PNLIPRP1 pancreatic lipase-related protein 1 ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN lipid metabolic process (inferred); ASSOCIATED WITH Prostatic Neoplasms; FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; silicon dioxide; 17alpha-ethynylestradiol (ortholog) 10 10 10 q25.3 112079787 112097984 + 118350478 118368687 + 116590978 116609175 + 1300048;1580863;2302990;6480464;8554872 11384102 12477932;1379598;15489334;16385451;19824014;23918603;24489884 5407 E7EX42;E9PJC9;E9PMA6;E9PMX6;E9PR20;E9PRT6;H0YDY1;P54315 ABBA01062955;AC016825;AK130236;AK307063;AMYH02023874;BC005233;BC025784;CH471066;CR749299;CR749524;CR749596;M93283;NM_006229;XM_005269903 AAA59532;AAH05233;AAH25784;CAH18154;CAH18337;CAH18394;EAW49449;EAW49450;NP_006220;P54315;XP_005269960 Hs.73923 5122383 RH71392 PL-RP1;PLRP1 OTTHUMP00000020567;OTTHUMP00000230058;OTTHUMP00000230064;inactive pancreatic lipase-related protein 1;pancreatic lipase related protein 1 protein-coding ENSG00000187021 HGNC:9156 05109 604422 PROVISIONAL 1318591 PNLDC1 poly(A)-specific ribonuclease (PARN)-like domain containing 1 ENCODES a protein that exhibits nucleic acid binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred); INTERACTS WITH zinc atom; zinc(0); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 q25.3 160867378 160887807 + 160221281 160241736 + 159800249 159820704 + 1580863;6480464;8554872 12477932;14702039;19724895;19851296;20198315;8889548 154197 Q8NA58;V9GYA0 ABBA01021059;ABBA01021060;AK093139;AK097559;AL139045;AMYH02014873;AMYH02014874;BC112246;BM666663;CH471051;NM_001271862;NM_173516 AAI12247;ADR83213;BAC04070;BAC05101;EAW47612;EAW47613;NP_001258791;NP_775787;Q8NA58 Hs.349077 FLJ40240;MGC138451;dJ195P10.2 OTTHUMP00000017533;OTTHUMP00000183474;poly(A)-specific ribonuclease PARN-like domain-containing protein 1 protein-coding ENSG00000146453 HGNC:21185 17868 VALIDATED 733600 PNLIPRP2 pancreatic lipase-related protein 2 ENCODES a protein that exhibits acylglycerol lipase activity; calcium ion binding; galactolipase activity; INVOLVED IN galactolipid catabolic process; phospholipid catabolic process; PARTICIPATES IN retinol metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular space; INTERACTS WITH copper(2+) sulfate; paraoxon; valproic acid 10 10 10 q25.3 112109764 112134082 + 118380465 118404654 + 116620953 116645143 + 1300048;1580863;6480464;6484679;8554872 21718801 12477932;1379598;15287741;15342556;15489334;16385451;16887271;17401110;18702514;19548271;21554982;21652702;21865348;22359512;22939629;23732775;7566098 5408 P54317 AA367174;ABBA01062954;ABBA01062955;AC016825;AK291492;AK307745;AK308508;AK308511;AK308521;AMYH02023874;BC005989;BP325072;BQ786898;BU078199;CH471066;CR456949;FO082044;M93284;NM_005396;NR_103727 AAA59533;AAH05989;ABM84052;ABM87402;BAF84181;CAG33230;EAW49447;EAW49448;NP_005387;P54317 Hs.423598 PL-RP2;PLRP2 OTTHUMP00000218565;galactolipase protein-coding ENSG00000266200 HGNC:9157 05110 604423 VALIDATED 734222 PNLIP pancreatic lipase This gene is a member of the lipase gene family. It encodes a carboxyl esterase that hydrolyzes insoluble, emulsified triglycerides, and is essential for the efficient digestion of dietary fats. This gene is expressed specifically in the pancreas. [provided by RefSeq, Jul 2008] 10 10 10 q26.1 112034704 112056644 + 118305428 118327367 + 116545916 116567855 + 1300048;1580863;1358859;6480464;6484679;8699517;7240710;8554872 15883013;21718801 10769148;11278590;11393534;12369922;12477932;12667003;1379598;14580194;1522902;15316225;15489334;15583024;16179352;16385451;16431912;17269661;1783385;18353248;19113953;19346257;19783858;20136147;20150178;20936779;2106079;22393262;23918603;24262094;24489884;2479644;7601150;8029213;8406023;8479519;9240923;9631512 5406 P16233 A24059;ABBA01062956;AH003527;AK313941;AL731653;AMYH02023872;AMYH02023873;BC007025;BC014309;CH471066;J05125;L24529;M93285;NG_023311;NM_000936 AAA36740;AAA60129;AAA99053;AAH14309;ADZ15379;BAG36659;CAA01714;EAW49451;NP_000927;P16233 Hs.501135 1708324;1787896 SHGC-173626;SHGC-79423 PL;PNLIPD;PTL OTTHUMP00000020564;pancreatic triacylglycerol lipase;triacylglycerol acylhydrolase APPROVED protein-coding ENSG00000175535 HGNC:9155 02005 246600;614338 REVIEWED 1346850 PNKD paroxysmal nonkinesigenic dyskinesia This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 2 2 2 q35 212901694 212978127 + 219135115 219211516 + 218270392 218346793 + 6480464;7240710;8554872;8699517 10574461;11076863;11256614;12477932;12975309;15188056;15188498;15489336;15496428;15496728;15824259;16189514;16381901;16632198;16972263;18029348;18948272;18948699;19124534;20237496;20301334;20301400;20360068;20620873;20877624;21139048;21487022;21832049;21962874;21963094;22780969;22967746;23082061;23128233;23455922;23696030;8288249;8659517;8659518;9490305 25953 Q8N490;Q96P23 AB033010;ABBA01023873;ABBA01023874;ABBA01023875;AC021016;AF318057;AF390031;AF417001;AF418285;AK289867;AK309308;AL080092;AL137675;AMYH02005786;AMYH02005787;AMYH02005788;AMYH02005789;AMYH02005790;AY039043;AY358680;AY358753;BC002937;BC007543;BC021118;BC036457;BI764334;BQ028777;BU553179;CH471063;NG_017060;NM_001077399;NM_015488;NM_022572 AAH02937;AAH21118;AAH36457;AAK83449;AAL08573;AAL08580;AAL25716;AAM73649;AAQ89043;AAQ89113;ACE86504;ACE87185;BAA86498;BAF82556;CAB45707;CAB70870;CAL37953;CAL38046;EAW70602;EAW70603;EAW70604;EAW70605;EAW70606;NP_001070867;NP_056303;NP_072094;Q8N490 Hs.98475 1298289;1298307;1340662;1341444;1676536;1679852;1680465;1708006;1780420;1788206;2109525;2118190;2126374;2154267;2157852;2161317;2179899;7187037 337G113';AI854243;D2S102;D2S120;D2S126;D2S128;D2S173;HSC2KC082;MR-_1_9437;RH12007;RH41829;RH64881;RH68260;RH78114;RH80510;RH98595;SHGC-84670;WI-17411 BRP17;DKFZp564N1362;DYT8;FKSG19;FPD1;KIAA1184;KIPP1184;MGC31943;MR-1;MR1;PDC;PKND1;TAHCCP2 OTTHUMP00000164142;OTTHUMP00000164143;OTTHUMP00000207315;OTTHUMP00000207316;brain protein 17;myofibrillogenesis regulator 1;probable hydrolase PNKD;trans-activated by hepatitis C virus core protein 2 APPROVED protein-coding ENSG00000127838 HGNC:9153 11369 118800;609023 REVIEWED 737176 PNMA1 paraneoplastic Ma antigen 1 This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors. [provided by RefSeq, Feb 2014] 14 14 14 q24.3 54214567 54217209 - 74178486 74181128 - 73711783 73714425 - 724595;6480464 10050892 12477932;14676191;15174051;15201193;15489334;15604093;16169070;16196087;16214224;16713569;16730941;17207965;18029348;18654987;21078624;21139048;21890473;21906983;21963094;21987572;22053931;23000965 9240 Q6IAP2;Q8ND90 ABBA01030747;AC006146;AF320308;AK290980;AL834327;AMYH02029496;BC007712;BC039577;BG700354;BG719761;CH471061;CR457112;NM_006029 AAH39577;AAN05100;ADQ32495;BAF83669;CAD38995;CAG33393;EAW81126;NP_006020;Q8ND90 Hs.194709 2182784;2191071 HSC0RE052;MARC_13971-13972:1010423493:1 MA1 37 kDa neuronal protein;OTTHUMP00000240353;neuron- and testis-specific protein 1;paraneoplastic antigen Ma1;paraneoplastic neuronal antigen MA1 APPROVED protein-coding ENSG00000176903 HGNC:9158 04926 604010 VALIDATED 1316357 PNMA2 paraneoplastic Ma antigen 2 INVOLVED IN positive regulation of apoptotic process (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 5-fluorouracil; all-trans-retinoic acid 8 8 8 p21.2 25324618 25333902 - 26362196 26371608 - 26504680 26513967 - 6480464;8554872 10048485;10050892;10362822;11558790;12477932;14676191;14702039;15489334;16214224;16344560;17207965;17353931;17474147;19596235;20467438;21209860;21729305;21890473;22505724;22863883;24255178;24778252;8889549 10687 Q5U5Z3;Q9UL42 AA025092;AB020690;ABBA01005572;AC015743;AF037365;AF083114;AF083115;AK055325;AMYH02017665;BC036489;BC047515;BC062301;CH471080;DA779744;NM_007257 AAD02098;AAF05625;AAF05626;AAH36489;AAH47515;AAH62301;ADQ32154;BAA74906;BAG51501;EAW63575;NP_009188;Q9UL42 Hs.591838 1678173;2152307;2170873;5015879;5022578 D1S1423;GDB:314949;RH80943;SHGC-24390;SHGC-36722 KIAA0883;MA2;MM2;RGAG2 40 kDa neuronal protein;OTTHUMP00000225004;onconeuronal antigen MA2;paraneoplastic antigen Ma2;paraneoplastic neuronal antigen MM2;retrotransposon gag domain containing 2 APPROVED protein-coding ENSG00000240694 HGNC:9159 603970 VALIDATED 1347764 PNMA5 paraneoplastic Ma antigen family member 5 This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011] X X X q28 152491524 152496827 - 152157368 152162671 - 152988824 152994127 - 6480464 11572484;12477932;15342556;16214224 114824 C9J4L3;Q96PV4 AA732768;AB067521;ABBA01043670;ABBA01043671;AK295446;AK316104;AMYH02040791;AY121806;BC101111;BC101112;BC101113;BP213790;CH471172;DC329825;DC401753;NG_021341;NM_001103150;NM_001103151;NM_001184924;NM_052926;U82671 AAI01112;AAI01113;AAI01114;AAM82754;BAB67827;BAG58384;BAH14475;EAW72892;NP_001096620;NP_001096621;NP_001171853;NP_443158;Q96PV4 Hs.573567 KIAA1934 OTTHUMP00000025900;OTTHUMP00000025901;paraneoplastic antigen family 5;paraneoplastic antigen like 5;paraneoplastic antigen-like protein 5;tumor antigen BJ-HCC-25 APPROVED protein-coding ENSG00000198883 HGNC:18743 06678 300916 REVIEWED 1625846 PNMA6B paraneoplastic Ma antigen family member 6B (pseudogene) FOUND IN cytoplasm X X q28 152341614 152343420 - 153075769 153077575 - 10854409;11256614;15772651;16214224 728513 P0C5W0 AC151958;AC152006;NG_033733 P0C5W0;P0CZ20 Hs.740244 PNMA6D paraneoplastic Ma antigen family member 6B;paraneoplastic antigen like 6B APPROVED pseudo HGNC:26681 INFERRED 1346943 PNMA6A paraneoplastic Ma antigen family member 6A INTERACTS WITH benzo[a]pyrene; cyclosporin A; quercetin X X X q28 152576057 152577863 + 152338301 152340107 + 153072456 153074262 + 737633;6480464 12477932 10854409;11076863;11181995;11256614;14676191;14702039;15489336;16169070;16214224;16344560;16381901;16407312;8889549 84968 P0CW24;P0CW26;P0CZ20 AC151958;AC152006;AC243374;AC243428;AK055322;AK289879;AMYH02040792;AMYH02040793;AMYH02040794;AMYH02040795;AMYH02040796;BC007631;BF508272;BX423798;BX423799;CH471172;DA091739;DB172169;NG_016372;NM_032882 AAH07631;BAB70902;BAF82568;CAL38174;EAW72886;EAW72887;NP_116271;P0CW24;P0CW26 Hs.533301;Hs.721963 MA6;MGC15827;PNMA6;PNMA6C OTTHUMP00000025910;paraneoplastic Ma antigen family member 6C;paraneoplastic antigen like 6A;paraneoplastic antigen like 6C;paraneoplastic antigen-like protein 6A;paraneoplastic antigen-like protein 6A related;paraneoplastic antigen-like protein 6C APPROVED protein-coding HGNC:28248 06637 300917 VALIDATED 1353570 PNLIPRP3 pancreatic lipase-related protein 3 ENCODES a protein that exhibits triglyceride lipase activity (inferred); INVOLVED IN lipid catabolic process (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 3,4-dichloroaniline; cyclosporin A; diuron 10 10 10 q25.3 111916979 111967023 + 118187424 118237469 + 116427912 116477957 + 6480464 12477932;19640199 119548 Q17RR3 ABBA01062958;ABBA01062959;AC011328;AL833418;AMYH02023869;AMYH02023870;BC015840;BC065752;BC117224;CH471066;KF455287;NM_001011709 AAI17225;ADR83014;EAW49452;NP_001011709;Q17RR3 Hs.276724 PL-RP3 OTTHUMP00000020563 protein-coding ENSG00000203837 HGNC:23492 18542 VALIDATED 5132398 PNMA6D paraneoplastic Ma antigen family member 6D (pseudogene) X X q28 152217967 152245978 - 153072456 153074262 + 10854409;16214224 100287466 AC152006;AC243374;AC243428;NG_033734 P0CZ20 Hs.740244 paraneoplastic antigen like 6D;paraneoplastic antigen-like protein 6A-like;paraneoplastic antigen-like protein 6D APPROVED pseudo HGNC:41924 INFERRED 1605375 PNMAL1 paraneoplastic Ma antigen family-like 1 INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; arsenite(3-) 19 19 19 q13.32 43773279 43778352 - 46969748 46974820 - 46466491 46471563 - 6480464 11076863;11230166;12107411;12477932;14676191;14702039;15489336;16196087;16344560;16381901;20098747;21832049;21890473;22053931;24250222 55228 M0R388;Q86V59 ABBA01040978;AC011484;AK001643;AK096326;AK290218;AL834344;AMYH02036223;BC026026;BC032508;BC051688;BG708870;BQ637225;BU844519;BX649091;CH471126;DA219062;DA325514;NM_001103149;NM_018215 AAH26026;AAH32508;AAH51688;ACE86867;ACE87555;BAA91804;BAF82907;CAD39010;CAL37492;CAL37641;CAL37938;CAL38109;CAL38249;CAL38458;EAW57421;NP_001096619;NP_060685;Q86V59 Hs.8395 1655486;1655867;1753999 A004P47;D19S1000;SHGC-132046 FLJ10781 OTTHUMP00000241028;PNMA-like 1;PNMA-like protein 1 APPROVED protein-coding ENSG00000182013 HGNC:25578 08552 VALIDATED 1349403 PNMTP1 phenylethanolamine N-methyltransferase pseudogene 1 2279621 5410 HGNC:9161 1349093 PNMA3 paraneoplastic Ma antigen 3 The protein encoded by this gene belongs to the paraneoplastic antigen MA (PNMA) family, which shares homology with retroviral Gag proteins. The PNMA antigens are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] X X X q28 152559961 152564021 + 152224766 152228827 + 153056409 153060467 + 1580863;6480464;8554872 11558790;12477932;14676191;15489334;16214224;16344560;16407312 29944 Q9UL41 ABBA01043662;ABBA01043663;AC152006;AC243428;AF083116;AI689415;AK312299;AL136878;AMYH02040792;BC030761;BC105096;BC105098;CH471172;DA237274;DR001205;NG_013256;NM_001282535;NM_013364;U82670 AAF05627;AAI05097;AAI05099;BAG35226;CAB66812;EAW72888;EAW72889;EAW72890;NP_001269464;NP_037496;Q9UL41 Hs.449627;Hs.744496 2136094;2219524;5493119 PNMA3__5734;STS-N70548;UniSTS:484360 MA3;MA5;MGC132756;MGC132758 OTTHUMP00000196648;paraneoplastic antigen Ma3;paraneoplastic cancer-testis-brain antigen APPROVED protein-coding ENSG00000183837 HGNC:18742 06677 300675 REVIEWED 5132358 PNMA6C paraneoplastic Ma antigen family member 6C X q28 152240819 152243402 + 11181995;12477932;14702039;8889549 100287428 AC152006;AK055322;AK289879;BC007631;BF508272;CH471172;NM_001170944;T68011 AAH07631;BAB70902;BAF82568;EAW72886;EAW72887;NP_001164415;P0CW26 Hs.533301 2184640 STS-N22466 FLJ30760;FLJ77696;MGC15827 paraneoplastic antigen like 6C;paraneoplastic antigen-like 6A related protein;paraneoplastic antigen-like protein 6A related;paraneoplastic antigen-like protein 6C APPROVED protein-coding ENSG00000235961 HGNC:41914 VALIDATED 2290513 PNMAL2 paraneoplastic Ma antigen family-like 2 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog); cocaine (ortholog) 19 19 19 q13.32 43797978 43802699 - 46994448 46999169 - 46491191 46495912 - 6480464 10574461;12477932;16344560;24250222 57469 Q9ULN7 AB033009;ABBA01040978;AC011484;AK124720;AMYH02036225;BC121810;BC122520;BF970252;BX390603;BX488737;DA015488;KF456590;NM_020709 AAI21811;AAI22521;AAI66688;BAA86497;BAC85931;NP_065760;Q9ULN7 Hs.7193 1767543;1856416;2120044 SGC31894;STS-AA022541;WI-18552 FLJ42730;KIAA1183 PNMA-like 2;PNMA-like protein 2 APPROVED protein-coding ENSG00000204851 HGNC:29206 VALIDATED 733566 PNOC prepronociceptin ENCODES a protein that exhibits neuropeptide hormone activity (inferred); opioid peptide activity (inferred); INVOLVED IN neuropeptide signaling pathway (inferred); sensory perception (inferred); signal transduction (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH arsenite(3-); formaldehyde; methyl methanesulfonate 8 8 8 p21 27134504 27160720 + 28174562 28200872 + 28317045 28343355 + 1580863;6480464 10101606;10419552;10692489;11097863;11214319;11331401;11436130;11501941;12477932;12812047;12950177;15489334;16043263;16344560;17910740;18240029;18292431;18577758;19058789;19501074;19560501;19573600;19874574;20100531;20379614;20888736;21310194;21547539;21600132;21744319;22706982;23382691;23454174;8710928;8710930;9168905;9521323 5368 E7EVP0;Q13519 ABBA01005597;AC021678;AK289633;AK301456;AMYH02017683;AY011845;AY335948;BC034758;BF976583;BT019334;CA412176;CH471080;CR541940;CR541965;DA403369;NM_001284244;NM_006228;U48263;X97367;X97370;XM_005273532;XM_005273533 AAC50651;AAG38294;AAH34758;AAP94601;AAV38141;ABM82222;ABM85406;BAF82322;BAH13485;CAA66039;CAA66040;CAG46738;CAG46763;EAW63526;EAW63527;NP_001271173;NP_006219;Q13519;XP_005273589;XP_005273590 Hs.88218 1337465;1753187;1772509;2113886;2126020;2173292 D8S1809;PNOC;SHGC-110036;STS-U48263;WI-15701;WI-18480 PPNOC OTTHUMP00000128320;nociceptin;nocistatin;propronociceptin protein-coding ENSG00000168081 HGNC:9163 03268 601459 VALIDATED 1349909 PNP purine nucleoside phosphorylase This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008] 14 14 14 q13.1 798688 807315 + 20937538 20946165 + 20469379 20478006 + 1580863;1600263;6480464;6907045;7240710;8554872;8699517 3029074 100152;10884411;11453975;11964161;12068295;12180982;12477932;12914785;12928150;13679062;1384322;14702039;14706628;15047506;15489334;15571269;15582582;1560016;16169070;16196087;16930574;16964310;17221831;17639373;18281956;18281957;18781797;18790691;18938130;18946041;19001417;19056867;19172318;19191546;1923769;1931007;19425594;19932753;20108972;20532380;2104852;21139048;21319273;21348499;21448452;21800051;21890473;21906983;21963094;22053931;22132981;22505724;22578971;22586326;22623428;22797925;22863883;22939629;23000965;24163370;24792412;24816145;25015289;25027693;6087295;6771276;8931706;9067751;9305962;9305963;9305964;9737781 4860 G3V2H3;G3V393;G3V5M2;P00491;V9HWH6 ABBA01061230;AK098544;AK126154;AK307340;AK307364;AK313490;AL355075;AMYH02028824;AY817667;BC104206;BC104207;BC106074;BM193354;BU622706;CH471078;CR407607;EU794649;J02672;M13951;M13952;M13953;NG_009631;NM_000270;X00737 AAA36460;AAI04207;AAI04208;AAI06075;AAV68044;ACJ13703;BAC05327;BAG36272;CAA25320;CAG28535;EAW66458;EAW66459;NP_000261;P00491 Hs.75514 1661883;1705020;1741597;1769244;2134974;2159492;5017498 GDB:181553;NP;RH18070;RH78901;SHGC-31518;SHGC-78026;humpnu2 FLJ94043;FLJ97288;FLJ97312;MGC117396;MGC125915;MGC125916;NP;PRO1837;PUNP HEL-S-156an;OTTHUMP00000163992;epididymis secretory sperm binding protein Li 156an;inosine phosphorylase;inosine-guanosine phosphorylase;purine-nucleoside:orthophosphate ribosyltransferase APPROVED protein-coding HGNC:7892 01247 164050;613179 REVIEWED 1604334 PNO1 partner of NOB1 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN nucleolus; nucleus; INTERACTS WITH afimoxifene; all-trans-retinoic acid; cyclosporin A 2 2 2 p14 68234624 68252699 + 68385005 68403091 + 68157873 68175959 + 6480464 10931946;12477932;15489334;15497447;15815621;16169070;21139048;21145461;21900206;22178446;22863883;22939629;23383273;24324551;24457600;24816145;8125298 56902 F8WBJ6;Q9NRX1 ABBA01075480;AC017083;AF164799;AF349314;AK223118;AK225641;AK291715;AK313204;AMYH02004005;AMYH02004006;BC008304;BC018152;CH471053;NM_020143 AAF80763;AAH08304;AAH18152;AAK29434;AAY14714;BAD96838;BAF84404;BAG36020;EAW99879;NP_064528;Q9NRX1 Hs.262858 1665213;2171910;5022578 D1S1423;D2S2828;SGC34128 KHRBP1;RRP20 KH-type RNA-binding protein 1;OTTHUMP00000159963;RNA binding protein;RNA-binding protein PNO1 protein-coding ENSG00000115946 HGNC:32790 14250 PROVISIONAL 1315443 PNPLA1 patatin-like phospholipase domain containing 1 The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 6 6 6 p21.31 37765485 37830961 + 36210945 36276372 + 36243168 36308595 + 6480464;8699517;7240710;8554872 12477932;14702039;16799181;18414634;19029121;19390624;20301593;22246504;24057234 285848 B8XXQ3;Q8N8W4 ABBA01038254;ABBA01038255;ABBA01038256;AK096074;AL512301;AM182887;AMYH02013553;BC103905;BC103906;BC103907;CH471081;FJ457781;NG_032813;NM_001145716;NM_001145717;NM_173676;Z84484;Z84485 AAI03906;AAI03907;AAI03908;ACJ70710;BAC04697;CAJ58679;EAX03883;NP_001139188;NP_001139189;NP_775947;Q8N8W4 Hs.407002 1298131;1719465;5037552;7184437;7185885;7186195 D6S291;D8S2279;RH123451 ARCI10;FLJ38755;MGC119319;MGC119320;MGC119321;dJ50J22.1 OTTHUMP00000016289;OTTHUMP00000180648;OTTHUMP00000180660;patatin-like phospholipase domain-containing protein 1 APPROVED protein-coding ENSG00000180316 HGNC:21246 17869 612121;615024 REVIEWED 732850 PNMT phenylethanolamine N-methyltransferase The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012] 17 17 17 q 34484236 34486457 + 37824234 37826728 + 39667981 39670475 + 1358561;1580863;1359087;4139902;4139904;5130164;5130725;5130172;5130171;5129532;5130152;5128821;5130724;6480464;6907045;7240710;8699517 11378842;11958827;12438084;14553966;15494609;16396986;17645789;18987458;19342614;20378607;21061149;7914070 11140838;11807261;11900856;12438093;12477932;12634439;1303174;15010812;15489334;15848714;15893506;15968085;16363801;16645894;16894395;17117180;17207965;17544870;18349382;18702937;18715275;18937842;19086053;19343046;19570037;19733262;19913121;19952402;20090367;20204374;20468064;20504532;20628086;21044950;21297633;21866188;24018397;2835776;3372503;3945626;9578504;9645429 5409 A8MT87;J3QRI3;P11086 ABBA01031860;AC087491;AMYH02033385;BC037246;BG394800;CH471152;CR541815;CS101344;J03280;J03727;NM_002686;NR_073461;X52730 AAA60130;AAA60131;AAH37246;ACE86778;ACE87464;ADQ32631;CAA36944;CAG46614;CAJ00715;EAW60588;NP_002677;P11086 Hs.1892 1657258;1685788;1741213;2163015;2176786 GDB:178582;RH41770;RH66625;RH71449;RH75065 MGC34570;PENT OTTHUMP00000164271;PNMTase;noradrenaline N-methyltransferase;phenylethanolamine N-methylase APPROVED protein-coding HGNC:9160 07176 145500;171190 REVIEWED 2946883 PNPLA4P1 patatin-like phospholipase domain containing 4 pseudogene 1 X Y Y 3178944 3179330 + 16192955 16193341 + 14081075 14081461 + 100462832 ABBA01030220;AC018677;NG_024801 APPROVED pseudo HGNC:38085 INFERRED 1313105 PNN pinin, desmosome associated protein ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cell adhesion (inferred); mRNA splicing, via spliceosome (inferred); regulation of transcription, DNA-templated (inferred); PARTICIPATES IN mRNA decay pathway; FOUND IN catalytic step 2 spliceosome; exon-exon junction complex; membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 14 14 14 q21.1 19509004 19517039 + 39644387 39652422 + 39175183 39183218 + 6480464;6907045 10095061;10486276;10645008;10809736;10931946;11991638;12051732;12077342;12477932;12893261;14517304;14578391;14729963;15302935;15324660;15358154;15489334;15542832;15735603;16051665;16159877;16169070;16314458;16341674;16430868;16565220;16964243;17081983;17332742;17353931;17643375;18029348;18086895;19454010;19471022;19913121;19946888;20628086;21139048;21319273;21628590;21693764;21906983;22113938;22178446;22388736;22446626;22505724;22586326;22952844;22990118;23000965;23084401;23097096;23299472;23455922;23602568;23752268;24816145;25027693;8125298;8922384;9447706 5411 G3V579;G3V5F0;Q9H307 ABBA01061550;AF195139;AK223612;AK292579;AK300164;AK303136;AK304622;AL132639;AMYH02029050;BC062602;BG057344;BM850066;BQ938918;CD687183;CH471078;HC250973;HC311162;NM_002687;U59479;U77718;Y09703 AAB03391;AAB48304;AAG33941;AAH62602;BAD97332;BAF85268;BAG61946;BAG64240;BAG65404;CAA70874;CBJ05784;CBJ21236;EAW65820;NP_002678;Q9H307 Hs.409965 1712088;1748397;1775006;1797162;1853422;1853424;2115123;2148802;2160218;5017500 A005O20;D12Ertd512e;D14S1290;G20375;G54093;OPRM1;PNN;RH160;RH44450;SGC31797 DRS;DRSP;SDK3;memA 140 kDa nuclear and cell adhesion-related phosphoprotein;OTTHUMP00000178906;SR-like protein;desmosome-associated protein;domain-rich serine protein;melanoma metastasis clone A protein;neutrophil protein;nuclear protein SDK3;pinin protein-coding ENSG00000100941 HGNC:9162 04401 603154 VALIDATED 1354502 PNPLA2 patatin-like phospholipase domain containing 2 This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010] 11 11 11 p15.5 885450 892225 + 818901 825573 + 818901 825573 + 737633;6480464;7240710;8554872;8699517 12477932 15231748;15337759;15364929;15550674;16169070;16239926;16644682;16679289;16752181;16799181;17032652;17187067;17327373;17356053;17609260;17631826;17657808;18072017;18191271;18224330;18445597;18445677;18952067;18952573;19010445;19029121;19061969;19106247;19208393;19390624;19401457;19433586;19692632;19695247;20167152;20237999;20370797;20832801;21073837;21129760;21139048;21170305;21393244;21498783;21543206;21544567;21613358;21680814;21757733;21789191;21828047;21890473;21900206;21906983;21963094;21987572;22183409;22535977;22713505;22815850;22832386;22990388;23000965;23232698;23297223;23824421;23827855;24332944;24440819;25036637;7686673;8619474;9110174 57104 Q96AD5 ABBA01015211;ABBA01015212;ABBA01204211;AF055000;AJ278475;AJ278476;AK308435;AL833707;AMYH02024152;AMYH02024153;AP006621;AY203925;AY894804;BC011958;BC017280;CH471158;HQ651812;JF279441;JF279442;KF601369;NG_023394;NM_020376;XM_003403858;XM_006718265;XM_006718266 AAC09354;AAH11958;AAH17280;AAP34448;AAW81962;ADU85972;AEZ01596;AIB55759;CAC01131;CAC01132;EAX02395;EAX02396;NP_065109;Q96AD5;XP_003403906;XP_006718328;XP_006718329 Hs.654697 2168680;5093252 A009K14;G32609 1110001C14Rik;ATGL;DKFZp667M109;FP17548;IPLA2-zeta;PEDF-R;TTS-2.2;TTS2;TTS2.2;iPLA2zeta OTTHUMP00000164432;adipose triglyceride lipase;calcium-independent phospholipase A2;desnutrin;patatin-like phospholipase domain containing protein 2;patatin-like phospholipase domain-containing protein 2;patatin-like phospholipase domain-containing protein 2-like;pigment epithelium-derived factor;transport-secretion protein 2;transport-secretion protein 2.2;triglyceride hydrolase APPROVED protein-coding ENSG00000177666 HGNC:30802 11443 609059;610717 REVIEWED 1346226 PNPLA4 patatin-like phospholipase domain containing 4 This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010] X X X p22.3 12042080 12071056 - 7866804 7895780 - 7898763 7927739 - 737633;1580863;6480464;6907045;8554872 12477932 15364929;15489334;15955102;16341674;16741517;16799181;17603008;18029348;19029121;19181555;19390624;7806223 8228 C9IZF6;P41247 ABBA01029293;ABBA01029294;ABBA01029295;ABBA01029296;AC005296;AK289888;AK304586;AMYH02038815;BC020746;BM850121;CH471074;DB468796;DC421932;NG_016624;NM_001142389;NM_001172672;NM_004650;U03886;U08893 AAA16491;AAA17838;AAH20746;ABM82325;ABM85504;BAF82577;BAG65374;EAW98751;EAW98752;EAW98753;NP_001135861;NP_001166143;NP_004641;P41247 Hs.264 1671007;1675133;1732195;2124202;7184832 DXS1283E;DXS9745;G15963;STS-U03886 DXS1283E;GS2;IPLA2-ETA;iPLA2eta IPLA2 eta;OTTHUMP00000022869;OTTHUMP00000022870;calcium independent phospholipases A2 eta;patatin-like phospholipase domain-containing protein 4 APPROVED protein-coding ENSG00000006757 HGNC:24887 02112 300102 REVIEWED 1343707 PNPLA5 patatin-like phospholipase domain containing 5 This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010] 22 22 22 q13.31 28186079 28198414 - 44275558 44287893 - 43879678 43892013 - 6480464 12477932;14702039;16799181;17603008;19029121;19390624;24613307 150379 B1AHL9;Q7Z6Z6 ABBA01014585;AK056648;AK127172;AMYH02038481;BC031820;BC104839;BC104843;BC143696;CH471138;NM_001177675;NM_138814;XM_005261376;Z97055 AAH31820;AAI04840;AAI04844;BAC86866;BAG51773;EAW73321;EAW73322;NP_001171146;NP_620169;Q7Z6Z6;XP_005261433 Hs.248086 1747541;2111422 D22S1145;G65439 4833426H19Rik;GS2L;dJ388M5;dJ388M5.4 GS2-like protein;OTTHUMP00000028876;OTTHUMP00000197824;patatin-like phospholipase domain-containing protein 5 APPROVED protein-coding ENSG00000100341 HGNC:24888 17870 611589 REVIEWED 1605701 PNPLA6 patatin-like phospholipase domain containing 6 This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 19 19 19 p13.2 7471561 7499172 + 7599033 7626653 + 7534152 7561767 + 6480464;6907045;7240710;8554872;8699517 10759065;11927584;12477932;12514188;12640454;15044461;15302935;16010971;16122834;16344560;16799181;16987144;17385009;18313024;19029121;19059269;19343046;19946888;20301682;20306302;20346913;20380879;20382209;20603202;21139048;21171093;21890473;21906983;22903185;22952844;23443559;24355708;24778252;25299038;3958422;4026382;6836585;9576844 10908 M0QXH7;M0QYF5;M0QYT1;M0QZD1;M0QZK5;M0R2C2;M0R2H4;M0R2K2;Q8IY17 ABBA01010900;AC008878;AC009003;AJ004832;AK293807;AK294021;AK302462;AL050362;AMYH02035399;BC038229;BC050553;BC051768;BQ001677;BQ430066;CH471139;DA096881;DA104284;DA247219;DB068563;NG_013374;NM_001166111;NM_001166112;NM_001166113;NM_001166114;NM_006702 AAH38229;AAH50553;AAH51768;BAG57214;BAG57380;BAH13718;CAA06164;CAB43674;EAW69029;EAW69030;NP_001159583;NP_001159584;NP_001159585;NP_001159586;NP_006693;Q8IY17 Hs.631863 1681955;1685281;2176810 RH11760;RH80512;RH91529 BNHS;NTE;NTEMND;SPG39;iPLA2delta;sws neuropathy target esterase;patatin-like phospholipase domain-containing protein 6 APPROVED protein-coding ENSG00000032444 HGNC:16268 04432 215470;603197;612020 REVIEWED 1603138 PNPLA10P patatin-like phospholipase domain containing 10 pseudogene X X X q25 126906867 126908966 + 126524543 126526642 + 127390561 127392660 + 16799181 643773 ABBA01047561;AMYH02040447;NG_028013;Z82209 1702930 sWXD1489 pseudo HGNC:32928 INFERRED 1352951 PNPO pyridoxamine 5'-phosphate oxidase The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008] 17 17 17 q21.32 42471698 42479495 + 46018889 46026674 + 47941523 47949308 + 634494;1580863;6480464;6907045;7240710;8554872;8699517 9601034 10024608;12477932;12824491;14702039;15182361;15489334;15772097;16344560;17851041;18485777;19322201;19759001;21139048;21283685;21832049;22939629;22949513;24645144;24658933;24816145;8125298;8889548 55163 J3KS77;J3QLF1;J3QQV6;J3QQZ9;Q9NVS9;V9HW45 ABBA01041150;AC018521;AF468030;AK001397;AK223242;AK303536;AK303665;AK303792;AMYH02033530;BC006525;CB853441;CH471109;DA186382;DB228906;FJ224333;NG_008744;NM_018129;XM_005257500 AAH06525;AAM76918;ACI46025;BAA91668;BAD96962;BAG64562;BAG64664;BAG64749;EAW94770;EAW94771;NP_060599;Q9NVS9;XP_005257557 Hs.631742 1341009;1778674;2128097;5022200;5022578;5037552;7185996 D17S1785;D17S2044;D1S1423;D8S2279;L18426;STS-AA005137 FLJ10535;HEL-S-302;PDXPO epididymis secretory protein Li 302;pyridoxal 5'-phosphate synthase;pyridoxamine-phosphate oxidase;pyridoxine 5'-phosphate oxidase;pyridoxine-5'-phosphate oxidase APPROVED protein-coding HGNC:30260 04476 603287;610090 REVIEWED 6908312 PNPT1P1 polyribonucleotide nucleotidyltransferase 1 pseudogene 1 3 3 3 p26.1 3964485 3966057 - 4024407 4025979 - 3982723 3984295 - 100288506 ABBA01020476;AC023480;AMYH02006175;NG_022194 1703472 SHGC-82583 pseudo HGNC:44468 INFERRED 1601958 PNPLA3 patatin-like phospholipase domain containing 3 The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008] 22 22 22 q13.31 28230136 28255047 + 44319619 44343451 + 43923739 43947568 + 6480464 10591208;12477932;12529303;15181042;15364929;15461802;15489334;16150821;16505250;16799181;18728122;18820647;18940312;19029121;19224197;19239840;19390624;19524579;19542081;19596471;19619606;19651814;19729411;19738004;19844213;19946271;20034933;20139978;20373368;20546964;20585554;20648472;20648474;20684021;20803499;20826584;20852027;20962157;21036152;21145868;21168155;21168459;21176169;21236304;21254164;21281435;21319195;21334404;21381068;21423719;21488075;21525193;21665509;21745282;21745286;21745307;21777557;21878620;21893698;21898508;21909109;21988832;22001757;22087248;22105854;22140488;22141340;22162034;22189977;22258181;22276112;22314430;22338072;22530607;22543885;22546774;22629460;22704398;22719190;22719876;22724004;22792295;22841784;22863562;22869157;22878467;22884299;22898488;22978414;23032985;23042597;23069476;23155331;23176674;23226254;23278404;23333103;23334462;23398201;23416328;23418085;23505555;23510779;23512881;23535911;23564580;23734760;23776098;23804528;23808989;23859071;23872669;23913731;24005099;24009255;24069270;24123231;24152445;24155878;24222094;24222941;24349054;24369119;24477042;24607626;24680680;24763554 80339 F8W8E5;Q9NST1 ABBA01014586;ABBA01014587;ABBA01014588;AK025665;AK123806;AK315166;AL023654;AL035398;AL138578;AMYH02038482;BC014449;BC065195;CH471138;CR456476;NG_008631;NM_025225;Z97055 AAH14449;AAH65195;BAG37610;BAG53962;CAB71238;CAG30362;EAW73323;EAW73324;EAW73325;NP_079501;Q9NST1 Hs.654800 5024756 RH80030 ADPN;C22orf20;iPLA(2)epsilon OTTHUMP00000197822;OTTHUMP00000197823;acylglycerol O-acyltransferase;adiponutrin;calcium-independent phospholipase A2-epsilon;iPLA2-epsilon;iPLA2epsilon;patatin-like phospholipase domain-containing protein 3 APPROVED protein-coding ENSG00000100344 HGNC:18590 12430 609567 REVIEWED 1353397 PNPLA7 patatin-like phospholipase domain containing 7 Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008] 9 9 9 q34.3 110879193 110969453 - 140354404 140445021 - 137459952 137550613 - 6480464;6907045;8554872 12477932;12640454;14702039;16344560;16799181;18029348;19029121;25015289 375775 F2Z2D4;Q6ZV29 ABBA01022774;ABBA01022775;ABBA01022776;ABBA01022777;AK024443;AK055880;AK122590;AK125060;AK126267;AK127249;AK127340;AK297623;AK310060;AL365502;AL832856;AL832944;AMYH02021937;AMYH02021938;AMYH02021939;BC025663;BF507598;CH471090;DA121537;DA333013;DA333130;DA963194;KF458950;NM_001098537;NM_152286;XM_005266079;XM_005266082;XM_006717102;XM_006717103;XM_006717104 AAH25663;AAI67848;BAB15733;BAB71033;BAC56931;BAC86036;BAC86509;BAG54465;BAG54487;BAG59999;CAH56322;CAH56483;EAW88396;EAW88397;EAW88398;NP_001092007;NP_689499;Q6ZV29;XP_005266136;XP_005266139;XP_006717165;XP_006717166;XP_006717167 Hs.294147 2137659 STS-N29354 C9orf111;FLJ31318;FLJ43070;FLJ44279;NTE-R1;NTEL1;RP11-48C7.2 OTTHUMP00000022702;OTTHUMP00000022703;OTTHUMP00000162663;patatin-like phospholipase domain-containing protein 7 APPROVED protein-coding ENSG00000130653 HGNC:24768 12933 612122 VALIDATED 6908290 PNPT1P2 polyribonucleotide nucleotidyltransferase 1 pseudogene 2 7 7 121483502 121485266 - 121843448 121845212 - 100533721 ABBA01057754;AC006353;AMYH02016670;AMYH02016671;NG_028676 pseudo HGNC:44469 INFERRED 1603644 PNPLA8 patatin-like phospholipase domain containing 8 This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. A pseudogene of this gene is located on the X chromosome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 7 7 7 q31 102925427 102979992 - 108110866 108168605 - 108470422 108528161 - 6480464 10744668;10833412;11076863;11230166;11256614;12477932;12690205;14702039;15489336;15695510;16381901;16799181;17213206;18680539;19029121;19892409;20379614;21139048;21906983;22006218;23258543;23429536 50640 C9J9W9;C9JAX4;Q9NP80 AB041261;ABBA01057890;AC005058;AF217519;AF263613;AF263947;AK002115;AK024335;AK291755;AL834147;AMYH02016529;AMYH02016530;AMYH02016531;AMYH02016532;BC005203;BC032999;BX647865;CH236947;CH471070;NM_001256007;NM_001256008;NM_001256009;NM_001256010;NM_001256011;NM_015723;XM_005250396 AAD08847;AAF67630;AAF75269;AAF81246;AAH32999;ABM81874;ABM85037;BAA92090;BAA94997;BAB14890;BAF84444;CAD38859;CAL37541;EAL24384;EAL24385;EAW83432;EAW83433;EAW83434;EAW83435;NP_001242936;NP_001242937;NP_001242938;NP_001242939;NP_001242940;NP_056538;Q9NP80;XP_005250453 Hs.617340 2131925;2150924;2157630;5022588 D5S1597E;GDB:1317478;RH48733;STS-N66001 IPLA2(GAMMA);IPLA2-2;IPLA2G;iPLA2gamma OTTHUMP00000206842;OTTHUMP00000206858;OTTHUMP00000206859;OTTHUMP00000206860;OTTHUMP00000206861;OTTHUMP00000206862;PNPLA-gamma;calcium-independent phospholipase A2-gamma;iPLA2 gamma;iPLA2-gamma;intracellular membrane-associated calcium-independent phospholipase A2 gamma;membrane-associated calcium-independent phospholipase A2 gamma;patatin-like phospholipase domain-containing protein 8 APPROVED protein-coding ENSG00000135241 HGNC:28900 13741 612123 VALIDATED 1351134 PNRC2 proline-rich nuclear receptor coactivator 2 INVOLVED IN nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; FOUND IN cytoplasmic mRNA processing body; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; acetaldehyde 1 1 1 p36.11 22617006 22620657 + 24286301 24289952 + 23959811 23963462 + 1580863;6480464 10894149;11042152;11574675;12477932;14651967;14702039;15489334;15604093;16169070;16344560;16710414;19150429;21900206;21906983;23085078;23251661 55629 J3KS97;Q9NPJ4 ABBA01059894;AF151042;AF374386;AK000319;AK024774;AK311305;AL590609;AMYH02000516;BC001959;BC068475;BC078177;BC085018;CH471134;DA043474;NM_017761 AAF36128;AAH01959;AAH78177;AAH85018;AAK54613;BAA91082;EAW95101;EAW95102;NP_060231;Q9NPJ4 Hs.512636;Hs.644217;Hs.716935;Hs.7862 1663364;1686802;1767228;2155640;2172346;5093208 A009J25;D1S3347;G19841;G32584;RH10644;SHGC-75397 FLJ20312;MGC99541 OTTHUMP00000015770;OTTHUMP00000015771 protein-coding ENSG00000189266 HGNC:23158 17871 611882 VALIDATED 1354036 PNRC1 proline-rich nuclear receptor coactivator 1 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 5-fluorouracil; aflatoxin B1 6 6 6 q15 90208316 90212762 + 89790429 89794879 + 89080710 89085160 + 1580863;6480464 10428808;10894149;11574675;12477932;14574404;15122321;15489334;15604093;17612402;18187620;18281297;18703122;19322201;19334528;21900206;24778252;7578250 10957 Q12796;Q49A59 ABBA01040524;AF279899;AK130046;AK312665;AL353135;AMYH02014072;AMYH02014073;AY303779;BC018112;BC044919;CH471051;DB494998;NM_006813;U03105 AAA85576;AAH18112;AAH44919;AAK07554;AAP76184;BAG35547;EAW48563;EAW48564;NP_006804;Q12796 Hs.75969 1690816;1767670;1852849;7186137 RH91119;SHGC-31472;STS-U03105 B4-2;PNAS-145;PROL2;PRR2;RP11-63L7.5 OTTHUMP00000016843;proline rich 2 protein;proline-rich polypeptide 2;proline-rich protein 2;proline-rich protein with nuclear targeting signal protein-coding ENSG00000146278 HGNC:17278 08412 606714 VALIDATED 5507979 POC1B-GALNT4 POC1B-GALNT4 readthrough This locus represents naturally occurring transcripts that splice the 5' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010] 12 12 q 89913189 89920039 - 89519412 89526262 - 6480464 20967262 100528030 F8VUJ3;F8VZB3;Q8N4A0 ABBA01053417;AC010201;AC025034;AK297677;AMYH02026904;BX647258;KF455691;NM_001199781;NM_001199782 BAG60038;NP_001186710;NP_001186711 Hs.25130 2108109;2173078;5014051;5021872;5022651;5037552 D11S2921;D8S2278;D8S2279;GALNT4_8847;SHGC-36408;sY3084 DKFZp686D0362;FLJ58458 OTTHUMP00000245832;OTTHUMP00000245833;POC1B-GALNT4 fusion protein-coding ENSG00000259075 HGNC:42957 VALIDATED 1317494 PNPT1 polyribonucleotide nucleotidyltransferase 1 The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012] 2 2 2 p15 55701589 55761360 - 55861198 55921045 - 55634063 55693910 - 1580863;6480464;6907045;8699517;8554872;7240710 12419256;12473748;12477932;12721301;12798676;14563561;14702039;15489334;15815621;16055741;16344560;16410805;16505900;16934922;16966379;16966381;17804700;17983748;18029348;18083836;18083837;18391951;18501193;19509288;19580345;19604093;19864255;20186120;20546612;20547861;20691904;20877624;21151174;21890473;22210891;22586326;22815474;22939629;23084290;23084291;23221631;23473034;24143183;24816145 87178 F8WBI3;H7BXF6;H7C3C5;Q8TCS8 ABBA01075272;ABBA01075273;ABBA01075274;ABBA01075275;AC015982;AJ458465;AK307589;AMYH02003858;AMYH02003859;AMYH02003860;AMYH02003861;AW731791;AY027528;AY290863;BC000862;BC005986;BC009057;BC021170;BC053660;BU943827;CH471053;CR749867;DA998523;DB461021;FB334481;HH765820;NG_033012;NM_033109;XM_005264629 AAH00862;AAH05986;AAH53660;AAK13047;AAP44472;AAY24271;CAD30289;CAH18709;CAR80228;CBX83686;EAX00086;EAX00087;NP_149100;Q8TCS8;XP_005264686 Hs.388733 1792198;5015861;5015961;5037552;5109281;7185938 D10S16;D15S1477;D1S1425;D8S2279;PMC139196P1 COXPD13;DFNB70;DKFZp762K1914;OLD35;old-35 3'-5' RNA exonuclease OLD35;OTTHUMP00000159687;OTTHUMP00000201237;OTTHUMP00000201815;PNPASE;PNPase 1;PNPase old-35;polynucleotide phosphorylase 1;polynucleotide phosphorylase-like protein;polyribonucleotide nucleotidyltransferase 1, mitochondrial APPROVED protein-coding ENSG00000138035 HGNC:23166 18493 610316;614932;614934 REVIEWED 1605874 POC5 POC5 centriolar protein FOUND IN centrosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; copper(2+) sulfate 5 5 5 q13.3 70863433 70906720 - 74970023 75013313 - 75674198 75717488 - 6480464 12477932;14702039;15144186;15489334;19349582;20360068;20935630;21906983;23000965;23563607;23844208 134359 D6RBC1;D6RDG4;D6REA5;D6RIH2;D6RJ06;Q8NA72 ABBA01061946;AC010245;AC025170;AK093098;AK296071;AK311296;AMYH02011592;AMYH02011593;AMYH02011594;BC010695;BC050459;BC065750;BC101325;BC101326;BC101327;BC101328;BJ991592;CA441610;CH471084;DB448626;NM_001099271;NM_152408;XM_005248435;XM_005248436;XM_005248437 AAH65750;AAI01326;AAI01327;AAI01328;BAC04054;BAG58829;EAW95767;EAW95768;EAW95769;NP_001092741;NP_689621;Q8NA72;XP_005248492;XP_005248493;XP_005248494 Hs.432726 2174466 SHGC-36931 C5orf37;FLJ35779;MGC120442;MGC120443;MGC120444;hPOC5 OTTHUMP00000222114;OTTHUMP00000222115;OTTHUMP00000222116;OTTHUMP00000222453;POC5 centriolar protein homolog;centrosomal protein POC5;protein of centriole 5;proteome of centriole 5 APPROVED protein-coding ENSG00000152359 HGNC:26658 08188 VALIDATED 1353956 POC1A POC1 centriolar protein A POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012] 3 3 3 p21.2 52088573 52168026 - 52109249 52188720 - 52075233 52154704 - 737633;6480464;8699517;7240710;8554872 12477932 14702039;15489334;18029348;18068700;19109428;20360068;22840363;22840364;22939629;23015594;24250222;8889548 25886 Q8NBT0 ABBA01024514;AC097637;AC115284;AF088072;AK075289;AK315688;AL117629;AMYH02006798;BC007417;BC110877;BC119692;BC119693;CA944751;CH471055;CQ783423;NG_032947;NM_001161580;NM_001161581;NM_015426;XM_005265019;XM_006713083 AAH07417;AAI10878;AAI19693;AAI19694;BAC11525;BAG38051;CAB56021;CAF86626;EAW65185;EAW65186;NP_001155052;NP_001155053;NP_056241;Q8NBT0;XP_005265076;XP_006713146 Hs.476306 1683130;1688546;1757659;2183140;2190937 D3S4107;MARC_11811-11812:1029265368:1;RH99127;SHGC-146170;SHGC-2444 DKFZp434C245;MGC131902;PIX2;SOFT;WDR51A OTTHUMP00000212478;OTTHUMP00000212479;OTTHUMP00000212480;POC1 centriolar protein homolog A;WD repeat domain 51A;WD repeat-containing protein 51A;proteome of centriole protein 1A APPROVED protein-coding ENSG00000164087 HGNC:24488 08523 614783;614813 REVIEWED 1602677 PODNL1 podocan-like 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN proteinaceous extracellular matrix (inferred); INTERACTS WITH atrazine; dasatinib (anhydrous); trimellitic anhydride (ortholog) 19 19 19 p13.12 13935745 13957830 - 14042000 14064204 - 13931187 13953392 - 6480464;8554872 12477932 79883 A8K3W6;B7Z3M0;K7EJ07;K7EMV0;K7EPI2;K7EPR1;K7ER84;K7ERE6;K7ESB1;Q6PEZ8 ABBA01029704;ABBA01029705;ABBA01029706;AC020916;AI219486;AK027100;AK290731;AK296101;AK298489;AMYH02035594;AX392985;BC052610;BC057786;CH471106;CS083255;KF511256;NM_001146254;NM_001146255;NM_024825;XM_006722901;XM_006722902;XM_006722903;XM_006722904 AAH57786;ADZ15620;BAB15657;BAF83420;BAH12256;BAH12800;CAD29040;CAI96014;EAW84381;EAW84382;EAW84383;NP_001139726;NP_001139727;NP_079101;Q6PEZ8;XP_006722964;XP_006722965;XP_006722966;XP_006722967 Hs.448497 FLJ23447;SLRR5B podocan-like protein 1 protein-coding ENSG00000132000 HGNC:26275 08027 VALIDATED 1350683 POC1B POC1 centriolar protein B INVOLVED IN cell proliferation; cilium assembly; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN centriole; centrosome; ciliary basal body; INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; titanium dioxide (ortholog) 12 12 12 q21.33 89485188 89591448 - 89813495 89920039 - 89419718 89526262 - 737633;6480464;8554872 12477932 14702039;15489334;16344560;17041588;17207965;18029348;18068700;19109428;20008567;20360068;20379614;23015594;25011449 282809 A0MNP0;B4DIH4;F8VPF1;F8VV91;F8VX21;Q6ZW40;Q8IU52;Q8TC44 AB053266;AB053276;ABBA01053417;ABBA01053418;ABBA01053419;AC010201;AC025034;AK027829;AK074772;AK123106;AK123625;AK295596;AL832918;AMYH02026904;AW149266;BC026080;BU521431;CH471054;CQ783661;CQ783663;DA851891;DC354425;EF011619;KF455691;NM_001199777;NM_172240;NR_037659;NR_037660 AAH26080;ABK41109;ADQ31801;BAB69057;BAB69430;BAC11198;BAC85666;BAG58486;CAF86799;CAF86800;CAH10775;EAW97425;EAW97426;EAW97427;NP_001186706;NP_758440;Q8TC44 Hs.25130;Hs.604487 1654914;1667565;1672156;1684746;1739233;1746521;1746607;1753473;2108109;2173078;2173204;2177850;2182433;2182790 D12S1071;D12S1373;D12S1429;D12S2100;G64424;G64452;GALNT4_8847;RH17759;RH45433;RH69261;RH94137;SHGC-107392;SHGC-36408;WI-14715 CORD20;FLJ14923;FLJ41111;PIX1;TUWD12;WDR51B OTTHUMP00000242503;OTTHUMP00000242504;OTTHUMP00000242505;POC1 centriolar protein homolog B;WD repeat domain 51B;WD repeat-containing protein 51B;proteome of centriole protein 1B APPROVED protein-coding ENSG00000139323 HGNC:30836 18301 614784;615973 VALIDATED 1345780 POF1 premature ovarian failure 1 ASSOCIATED WITH Fragile X Syndrome (inferred); Fragile X Tremor Ataxia Syndrome (inferred); Primary Ovarian Insufficiency (inferred) 7240710 5421 HGNC:9172 300623;300624;311360 1347781 PODXL2 podocalyxin-like 2 This gene is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmembrane region, and a charged cytoplasmic tail. The encoded protein is a ligand for vascular selectins. [provided by RefSeq, Oct 2012] 3 3 3 q21.3 125774516 125818509 + 127348002 127391653 + 127629159 127672810 + 1580863;6480464 10722749;12477932;12889478;12975309;14573602;15489334;16410385;16720896;17081983;18606703;18987355;21139048;21906983;21963094;21987572;22053931 50512 Q9NZ53 ABBA01020882;ABBA01020883;ABBA01020884;AC023593;AF219137;AL524055;AMYH02007605;AMYH02007606;AY359096;BC019330;BC052585;CH471052;DB543702;NM_015720;XM_006710151 AAF44629;AAH19330;AAH52585;AAQ89454;EAW79337;EAW79338;NP_056535;Q9NZ53;XP_006710214 Hs.591290 1853015;2170004 D3S3965;SHGC-77281 EG;PODLX2 OTTHUMP00000216064;endoglycan;podocalyxin-like protein 2 protein-coding ENSG00000114631 HGNC:17936 15154 REVIEWED 1348314 POFUT1 protein O-fucosyltransferase 1 This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 20 20 20 q11 27552048 27582816 + 30795625 30826467 + 32207822 32238664 + 1580863;2302204;6480464;6907045;8699517;7240710;8554872 17761886 11524432;11698403;11780052;12036964;12168954;12477932;12697902;15489334;15653671;18347015;20000738;20379614;21906983;21988832;22268729;22632162;22939629;23684010;24064921;24654937;8724849;9023546;9525914 23509 B4DUV4;Q9H488 ABBA01019279;ABBA01019280;AF375884;AK291033;AK300810;AK303068;AL121897;AL832023;AMYH02036920;BC000582;BC017669;CH471077;D80002;NG_033906;NM_015352;NM_172236;XR_430297 AAH00582;AAL09576;BAA11497;BAF83722;BAG62466;BAG64185;EAW76383;EAW76384;EAW76385;NP_056167;NP_758436;Q9H488 Hs.472409 2109683;5109281 D1S1425;POFUT1_9356 DDD2;FUT12;KIAA0180;MGC2482;O-FUT;O-Fuc-T;O-FucT-1;OFUCT1 GDP-fucose protein O-fucosyltransferase 1;OTTHUMP00000030583;OTTHUMP00000030584;o-fucosyltransferase protein;peptide-O-fucosyltransferase 1 APPROVED protein-coding ENSG00000101346 HGNC:14988 06319 607491;615327 REVIEWED 1604326 POGLUT1 protein O-glucosyltransferase 1 This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] 3 3 3 q13.33 117596459 117622119 + 119187785 119213555 + 119468938 119494708 + 6480464;6907045;8699517;7240710;8554872 12477932;12975309;15342556;15489334;16303743;16524674;17207965;19822096;20143914;20190752;21458412;21949356;22268729;22939629;23692084;24387993;8125298 56983 B4DJ97;B4DVA9;F8WDC4;F8WEW4;H7C5H0;Q8NBL1 ABBA01061583;AC073352;AC074271;AF168711;AK027012;AK075444;AK126736;AK222937;AK295984;AK301002;AK315367;AMYH02007501;AY298903;AY358581;BC030614;BC048810;BP347179;CD517010;CH471052;CS051265;NG_034115;NM_152305;NR_024265;XM_006713704;XM_006713705 AAF87313;AAH30614;AAH48810;AAP56253;AAQ88944;ADQ31708;BAC11625;BAD96657;BAG37760;BAG58759;BAG62621;CAI72128;EAW79570;NP_689518;Q8NBL1;XP_006713767;XP_006713768 Hs.231750 1340389;1676306;1722231;2140845;2175267 D3S3513;D3S3946;G60021;RH44249;RH48743 C3orf9;CLP46;KDELCL1;KTELC1;MDS010;MDSRP;MGC32995;Rumi;hCLP46 9630046K23Rik;CAP10-like 46 kDa protein;CAP10-like protein, 46 kDa;KDELC family like 1;KTEL (Lys-Tyr-Glu-Leu) containing 1;KTEL motif-containing protein 1;O-glucosyltransferase Rumi homolog;OTTHUMP00000215111;hRumi;myelodysplastic syndromes relative protein;x 010 protein APPROVED protein-coding ENSG00000163389 HGNC:22954 17475 615618;615696 REVIEWED 1316469 POFUT2 protein O-fucosyltransferase 2 Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008] 21 21 21 q22.3 31791392 31815364 - 46683843 46707811 - 45263928 45287896 - 1580863;6480464;6907045 10231032;10830953;12477932;12966037;15146197;15233996;15489334;16464857;16464858;17395589;19615732;20549515;22588082;24250222 23275 H7C2T5;Q9Y2G5 AB023175;ABBA01074188;ABBA01074189;ABBA01074190;AJ302079;AJ302080;AJ575591;AK290732;AK294966;AK298080;AL110285;AL163301;AMYH02037928;AMYH02037929;AMYH02037930;AY066015;BC000626;BC011044;BC064623;BI560842;BI669244;BX322557;CA425603;CH471079;CN429387;HG380510;NM_015227;NM_133635;NR_004858;XM_006723981;XM_006723982;XM_006723983;XM_006723984;XR_430348 AAH11044;AAH64623;AAL47681;BAA76802;BAF83421;BAG58039;BAG60368;CAB53715;CAB90496;CAC24556;CAC24557;CAE01472;CDG37810;EAX09350;EAX09351;EAX09352;EAX09353;EAX09354;NP_056042;NP_598368;Q9Y2G5;XP_006724044;XP_006724045;XP_006724046;XP_006724047 Hs.592164 1678165;2219530 POFUT2__5742;RH38884 C21orf80;FUT13 GDP-fucose protein O-fucosyltransferase 2;O-FucT-2;OTTHUMP00000107272;OTTHUMP00000107274;OTTHUMP00000107275;OTTHUMP00000196411;peptide-O-fucosyltransferase 2 APPROVED protein-coding ENSG00000186866 HGNC:14683 09846 610249 VALIDATED 736843 PODXL podocalyxin-like This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq, Jul 2008] 7 7 7 q32-q33 125935975 125992326 - 131185021 131241376 - 131500262 131556617 - 1580863;6480464;8554872 10737800;11457882;11997330;12477932;12504081;12690205;12874460;14702039;15146197;15226400;15289306;15326289;15342556;15642748;16434482;16502470;16684343;17124010;17137615;17311105;17616675;17719804;18029348;18313397;18356574;18456258;18818395;19118161;19605546;20395446;20599725;20628624;21139048;21319273;21383689;21390327;21616097;21655212;21829192;21890473;21906983;21963094;21987572;22262060;22374871;22700887;22769594;22814396;23288345;23396057;23526252;23652315;23819542;24048372;24075693;24143384;24146797;8125298;9188463;9339384;9625756 5420 G3V0E6;O00592;Q96N83 ABBA01057558;ABBA01057559;AC008264;AK055816;AK223573;AMYH02016771;BC042466;BC093730;BC112035;BC143318;BG006197;BP355358;BX641124;CH236950;CH471070;CN290641;NM_001018111;NM_005397;U97519 AAB61574;AAH93730;AAI12036;AAI43319;BAB71022;BAD97293;EAL24080;EAW83786;EAW83787;NP_001018121;NP_005388;O00592 Hs.744213 1650622;1662801;1674121;2114178;2120241 D7S1418;GDB:4584972;RH45367;RH78732;STS-H65205 Gp200;MGC138240;PC;PCLP;PCLP-1 GCTM-2 antigen;OTTHUMP00000206939;OTTHUMP00000206940;podocalyxin;podocalyxin-like protein 1 APPROVED protein-coding HGNC:9171 04025 602632 REVIEWED 1351618 POF1B premature ovarian failure, 1B Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called "POF1" and "POF2" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010] X X X q21.2 84771759 84874115 - 84532395 84634748 - 85277389 85379743 - 6480464;7240710;8554872;8699517 11299520;12477932;14702039;15459172;15489334;15772651;16773570;17123869;18029348;20360068;20734064;21139048;21145461;21182205;21800051;21940798;8125298;9001815 79983 Q8WVV4 ABBA01051658;ABBA01051659;ABBA01051660;ABBA01051661;ABBA01051662;ABBA01051663;ABBA01051664;ABBA01051665;ABBA01051666;ABBA01051667;ABBA01051668;AF309774;AI591162;AK025039;AK025080;AK026445;AK225193;AK290360;AK314295;AL117325;AMYH02039891;BC017500;CH471104;KF459197;KF510683;NG_016358;NM_024921;XM_005262202;XM_005262203;Z82216 AAH17500;AAM93270;ABM83153;BAB15055;BAB15061;BAB15485;BAF83049;BAG36950;EAW98560;EAW98561;EAW98562;NP_079197;Q8WVV4;XP_005262259;XP_005262260 Hs.267038 1747221;1747223;1747225;1747227;1747229;1747231;1747233;1747235;1747237;1747239;1747241;1747243;1747245;1747247;2150156;2175473;2186604;2219528 AL022445;DXS7604;DXS7672;G65225;G65226;G65252;G65255;G65256;G65257;G65259;G65260;G65264;G65265;G65266;G65268;G65271;G65275;POF1B__5741 FLJ22792;POF;POF2B OTTHUMP00000023625;OTTHUMP00000023626;premature ovarian failure protein 1B APPROVED protein-coding ENSG00000124429 HGNC:13711 06679 300603;300604 REVIEWED 1320634 PODN podocan ENCODES a protein that exhibits collagen binding; INVOLVED IN negative regulation of cell migration; negative regulation of cell proliferation; FOUND IN cytoplasm; extracellular space; INTERACTS WITH amiodarone; benzo[a]pyrene; dasatinib (anhydrous) 1 1 1 p32.3 51815859 51839146 + 53527724 53551174 + 53062052 53085502 + 6480464 12477932;12796502;12975309;15063725;15489334;16710414;19913121;20628086;24043300 127435 Q7Z5L7 ABBA01074746;AK296649;AK299375;AK300847;AK304599;AK314096;AL122104;AL445183;AMYH02001034;AY313607;AY358294;BC024024;BC028292;BC030608;BQ719232;BX391686;CH471059;DC404421;NM_001199080;NM_001199081;NM_001199082;NM_153703;XM_005270457 AAH28292;AAH30608;AAP79898;AAQ88661;ABM82697;ABM85881;BAG36791;BAG59247;BAG61365;BAG62498;BAG65385;EAX06756;EAX06757;EAX06758;NP_001186009;NP_001186010;NP_001186011;NP_714914;Q7Z5L7;XP_005270514 Hs.586141;Hs.744361 2143483 SHGC-74848 MGC24995;PCAN;SLRR5A OTTHUMP00000010487;OTTHUMP00000035906;podocan proteoglycan protein-coding ENSG00000174348 HGNC:23174 10557 608661 VALIDATED 731623 POLA2 polymerase (DNA directed), alpha 2, accessory subunit ENCODES a protein that exhibits DNA binding (inferred); DNA-directed DNA polymerase activity (inferred); protein heterodimerization activity (inferred); INVOLVED IN DNA biosynthetic process (inferred); DNA replication (inferred); DNA replication initiation (inferred); PARTICIPATES IN DNA replication pathway; purine metabolic pathway; pyrimidine metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 5-fluorouracil 11 11 11 q13.1 62355790 62391446 + 65029432 65065088 + 65261961 65297617 + 1580863;6480464;6907045;8554872 11433027;11473323;12181327;12477932;12546699;14702039;15231747;15302935;15489334;16169070;16964243;18029348;1902230;19237606;19615732;20800603;21139048;21832049;21890473;21900206;21906983;21963094;21987572;22505724;22593576;22678362;22863883;22939629;23891004;24816145;6693436;8223465;9518481;9822671 23649 E9PIQ6;E9PQ99;H0YDR7;Q14181 ABBA01024129;AK025315;AK094569;AK297842;AK307831;AK309284;AMYH02024955;AP000944;BC001347;BC002990;BC018813;BC018814;CH471076;CR456737;L24559;NM_002689 AAA16459;AAH01347;AAH02990;ABM82949;ABM86141;BAG52888;BAG60176;CAG33018;EAW74373;NP_002680;Q14181 Hs.201897 1677574;1725679;1776479;1793882;1858389;2133489;2152274;2177135;2186998;2217770 D11S4591;D11S4653;G33107;G33108;G33109;G62107;PMC303366P6;POLA2_3563;RH17414;RH98539 FLJ21662;FLJ37250 DNA polymerase alpha 70 kDa subunit;DNA polymerase alpha subunit B;OTTHUMP00000231593;dna polymerase alpha subunit ii;polymerase (DNA directed), alpha 2 (70kD subunit);polymerase (DNA-directed), alpha (70kD) APPROVED protein-coding HGNC:30073 10160 PROVISIONAL 1319023 POGK pogo transposable element with KRAB domain The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008] 1 1 1 q24.1 139913857 139928842 + 166808681 166823709 + 166839444 166854472 + 6480464 10509013;10819331;12477932;14702039;16964243;18029348;19064610;19322201;19536175;20360068;21832049;21900206;21963094;22053931;22939624;24816145;8619474;9110174 57645 B4DS22;Q5TIJ2;Q9P215 AB040946;ABBA01047257;ABBA01047258;AF111706;AF131746;AF139898;AK027079;AK056711;AK093951;AK293946;AK299537;AL008639;AMYH02002078;AMYH02002079;BC016390;BC131624;CH471067;NM_017542;XM_005245370;XM_005245371;XM_005245372 AAD20031;AAD50079;AAI31625;AAM12422;BAA96037;BAG51796;BAG57323;BAG61484;EAW90775;EAW90776;EAW90777;NP_060012;Q9P215;XP_005245427;XP_005245428;XP_005245429 Hs.432752 1680367;1700084;1778855;2219532 D1S1807E;POGK__5743;RH103655;RH64540 BASS2;KIAA1513;KIAA15131;KRBOX2;LST003 KRAB box domain containing 2;OTTHUMP00000032214;OTTHUMP00000032215;OTTHUMP00000032216 APPROVED protein-coding HGNC:18800 17872 REVIEWED 5132189 POLD2P1 polymerase (DNA directed), delta 2, accessory subunit pseudogene 1 5 5 5 q15 88462106 88463452 + 92603044 92604390 + 93267338 93268684 + 16479163;23251661 391811 ABBA01069286;AC008500;AMYH02011799;NG_021890 APPROVED pseudo HGNC:41522 INFERRED 732365 POLA1 polymerase (DNA directed), alpha 1, catalytic subunit This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010] X X X p22.1-p21.3 28834936 29139042 + 24712038 25015103 + 24693921 24996986 + 1580863;6480464;6907045;7240710;8699517;8554872 10518787;10869558;10877824;11259605;11470886;11473323;11917009;11968016;12181327;12220650;12393188;12546699;12665598;12950174;1311258;14499601;1508673;15146197;15615704;16438930;16762037;1689958;16935576;17209555;1730053;17699597;17761813;18029348;1848671;1903085;19177015;19471022;19608746;19615732;2005899;21139048;21705323;2175912;21890473;21963094;22053931;2243771;22505724;22586326;22593576;22623531;22678362;22679391;22863883;22887995;22918585;22939629;23390603;23891004;2410918;24250222;24332808;24816145;3139084;3335506;3359994;3490907;3820307;3917431;4084590;6693436;7045121;7085672;7504813;7910375;8223465;8226963;8760400;8889548;893425;9039979;9395244;9506968;9518481;9563011;9815285;9822671 5422 A6NMQ1;P09884 ABBA01072351;ABBA01072352;ABBA01072353;ABBA01072354;ABBA01072355;ABBA01072356;ABBA01072357;ABBA01072358;ABBA01072359;ABBA01072360;ABBA01072361;ABBA01072362;ABBA01072363;ABBA01072364;ABBA01072365;ABBA01072366;ABBA01072367;ABBA01072368;ABBA01072369;ABBA01072370;ABBA01072371;ABBA01072372;ABBA01072373;ABBA01072374;ABBA01072375;AC002504;AC004655;AC079375;AC135280;AMYH02039054;AMYH02039055;AY275833;BM664024;BU508486;BX648513;CH471074;CN364591;DW462890;HB393262;KF459032;KF459037;M64481;NG_016798;NM_016937;X06745;XM_005274552;XM_006724499 AAA52318;AAP13534;CAA29920;CAZ65678;EAW99028;NP_058633;P09884;XP_005274609;XP_006724562 Hs.567319 1645557;1669618;1689253;1702068;1702120;1711158;1715393;1733420;1777067;1793622;2149958 AFM240zf6;DXS1198;DXS1396;DXS6717;DXS7504;GDB:192498;PMC24149P2;RH11251;RH120529;SHGC-85317;STS-X06745 DKFZp686K1672;NSX;POLA;p180 DNA polymerase alpha 1 catalytic subunit;DNA polymerase alpha catalytic subunit;DNA polymerase alpha catalytic subunit p180;DNA polymerase alpha p180 subunit;N syndrome (mental retardation, malformations, chromosome breakage);OTTHUMP00000023089;OTTHUMP00000023090;dna polymerase alpha subunit i;polymerase (DNA directed), alpha 1;polymerase (DNA-directed), alpha (70kD) APPROVED protein-coding ENSG00000101868 HGNC:9173 02416 310465;312040 REVIEWED 1318336 POLD4 polymerase (DNA-directed), delta 4, accessory subunit This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 11 11 11 q13 64452172 64454205 - 67118236 67121067 - 67350765 67353596 - 1580863;2306716;6480464;6907045;7246935 18157157;21601536 10559261;10751307;11473323;12403614;12477932;15342556;15670210;16510448;16934752;17317665;18682526;19931513;20861182;21705323;21906983;21963094;23000965;23233665;23254330;23913683;24022480;24035200;24300032;8889548;9111189 57804 E9PL15;Q6NSD7;Q9BVB1;Q9HCU8 AB209274;ABBA01024039;AF179890;AMYH02024994;AP003419;AY928482;BC001334;BC070250;BG403692;BG576821;BM697399;BP263644;CH471076;NM_001256870;NM_021173;NR_046411;NR_046412;NR_046413 AAG08966;AAH01334;AAH70250;AAX09676;BAD92511;EAW74598;EAW74599;EAW74600;NP_001243799;NP_066996;Q9HCU8 Hs.523829 1665719;1731271;2159622;2217774;5014051;5015404;5015619;5016478;5016700;5022200;5022649;5037552;5109281;5117897 A007C03;D11S2875;D11S3114;D11S658;D1S1425;D8S2278;D8S2279;GDB:434012;GDB:631813;L17705;L18426;POLD4_3614;RH79802;WI-18546 POLDS;p12 DNA polymerase delta smallest subunit p12;DNA polymerase delta subunit 4;DNA polymerase delta subunit p12;OTTHUMP00000235271;OTTHUMP00000236818 APPROVED protein-coding HGNC:14106 17873 611525 REVIEWED 734076 POLD1 polymerase (DNA directed), delta 1, catalytic subunit This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012] 19 19 19 q13.3 47937836 47971517 + 50887531 50921275 + 50384278 50418018 + 1580863;737798;1358139;2306716;6480464;6907045;7246935;7240710;8554872;8699517 12429860;18157157;21601536 10559260;10559261;10608806;10852724;11328591;11473323;11923315;12171929;12220650;12393188;12403614;12477932;12530964;12806015;1427831;14767555;14988403;15113441;1542570;15489334;15670210;15805117;15995249;16169070;16196087;16226712;16488880;16510448;16543152;16762037;16934752;17203305;1722322;1730053;17314511;17353931;17474147;18247557;18270339;18676680;18701435;19170196;19237606;19329428;19557333;19625176;19692168;19913121;19946888;20070946;20226869;20227374;20496165;20522537;20541997;20574454;20628086;20811636;21044950;21139048;21145461;21252943;21415862;21705323;21890473;21906983;21918226;21963094;21987572;22465957;22505724;22678362;22761421;22863883;22887995;22915169;22939629;22942285;23000965;23251661;23254330;23263490;23447401;23528559;23585564;23738518;23770608;23891004;24250222;2436659;24457600;24509466;24768535;24816145;24958773;3146346;3335506;7490075;8889549;9030545;9111189;9286699;9545286;9563011;9620226 5424 M0QXE6;M0QXQ2;M0QZB4;M0QZR8;M0R2B7;M0R2I8;M0R2J2;P28340;Q59FA0 AA236879;AB209560;ABBA01068324;ABBA01068325;ABBA01068326;ABBA01068327;ABBA01068328;AC008655;AC020909;AMYH02036348;AMYH02036349;AMYH02036350;AMYH02036351;AMYH02036352;AY129569;BC008800;BM193218;CD101690;CH471135;DQ234348;M80397;M81735;NG_033800;NM_001256849;NM_002691;NR_046402;XM_005259006;XM_005259007;XM_005259008;XM_006723248 AAA35768;AAA58439;AAH08800;AAM76971;ABB29977;ABM86879;ABW03832;BAD92797;EAW71856;EAW71857;NP_001243778;NP_002682;P28340;XP_005259063;XP_005259064;XP_005259065;XP_006723311 Hs.279413 1664212;1678067;5117598;5124811 GDB:583955;RH47504;RH70542;RH93516 CDC2;CRCS10;MDPL;POLD CDC2 homolog;DNA polymerase delta catalytic subunit;DNA polymerase subunit delta p125;DNA-directed polymerase delta 1;dna polymerase delta, catalytic subunit;polymerase (DNA directed), delta 1, catalytic subunit 125kDa APPROVED protein-coding ENSG00000062822 HGNC:9175 08882 174761;612591;615381 REVIEWED 1312693 POLD2 polymerase (DNA directed), delta 2, accessory subunit This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012] 7 7 7 p13 44252240 44261103 - 44154279 44163267 - 44114680 44123570 - 1580863;2306716;6480464;6907045;7246935;8554872 18157157;21601536 10559261;10811112;10852724;10978529;11027336;11328591;11473323;11593007;11986310;12171929;12403614;12477932;12522211;12690205;15231747;15342556;15489334;15596820;15670210;16000169;16344560;16479163;16510448;16934752;18029348;18765914;18818516;19237606;20226869;20574454;21079801;21139048;21372597;21906983;21963094;21988832;22505724;22678362;22797925;22863883;23254330;8530069;9111189;9286699 5425 C9IZD2;C9J8Z7;C9JHC7;C9JLE1;F8W8R3;H7C1B3;P49005 ABBA01058215;AC006454;AF239710;AK292347;AK298168;AK312294;AMYH02015616;AU117477;AW732014;AY116646;BC000459;BC030001;BP224472;CH236960;CH471128;DB025069;NM_001127218;NM_001256879;NM_006230;U21090;XM_006715745 AAC50216;AAG09763;AAH00459;AAM51148;ABM82925;ABM86115;BAF85036;BAG35221;BAG60440;EAL23767;EAW61118;NP_001120690;NP_001243808;NP_006221;P49005;XP_006715808 Hs.306791;Hs.740138 1771667;1789911;1789913;1789915;1789917;1789919;1789921;1789923;2146707;2190915 A006F20;MARC_1149-3079:996678917:1;RH71212;csnppold2-pcr1-1;csnppold2-pcr10-1;csnppold2-pcr2-1;csnppold2-pcr3-1;csnppold2-pcr4-1;csnppold2-pcr6-1;csnppold2-pcr7-1 DNA polymerase delta subunit 2;DNA polymerase delta subunit p50;OTTHUMP00000159252;OTTHUMP00000209249;OTTHUMP00000209250;Pol delta B subunit (p50);polymerase (DNA directed), delta 2, regulatory subunit 50kDa APPROVED protein-coding ENSG00000106628 HGNC:9176 15982 600815 REVIEWED 1315967 POLDIP2 polymerase (DNA-directed), delta interacting protein 2 This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 17 17 17 q11.2 23535404 23546357 - 26673659 26684603 - 28346633 28357580 - 6480464 11042152;11076863;11256614;12477932;12522211;15489334;15489336;15596820;15811854;16169070;16381901;16428295;17623671;18063578;19574552;20158880;20186120;20554254;20877624;21139048;21145461;21832049;21890473;21900206;23443559;23989611;24191025;24654937;24816145 26073 B4DEM9;Q9UG21;Q9Y2S7;U3KQJ1 ABBA01015060;AC002094;AF077203;AF179891;AI917975;AK293707;AK313232;AL110156;AMYH02033221;AMYH02033222;BC000655;BC009265;BC018864;BG150599;BM809398;BU932070;CA417611;CH471159;DB455962;HY130221;KF573649;NM_001290145;NM_015584 AAD26998;AAH00655;AAH09265;AAK92018;BAG36043;BAG57140;CAB53663;CAL37990;EAW51078;NP_001277074;NP_056399;Q9Y2S7 Hs.241543 1684752;1686670;2217776 POLDIP2_3570;RH17855;RH64911 DKFZp586F1524;PDIP38;POLD4;p38 38 kDa DNA polymerase delta interaction protein;polymerase delta interacting protein 38;polymerase delta-interacting protein 2 APPROVED protein-coding HGNC:23781 17874 611519 REVIEWED 736608 POLB polymerase (DNA directed), beta The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011] 8 8 8 p11.2 41140732 41174028 + 42195973 42229331 + 42338455 42371813 + 1580863;2302580;2317132;6480464;6907045;8554872 17230526;17412650 10559261;10629618;11163244;11242139;11250913;11467963;11756435;11805079;11827474;11912205;11923315;11955015;12063248;12067997;12173936;12196536;12370169;12453427;12477932;12517346;12665521;1408801;14506279;14627836;14988403;15107487;1511447;15145936;15260972;15314187;15342556;15367657;15489334;15520167;15548520;15561706;15601998;15725623;15731342;15753095;15764500;15963946;16060670;16169070;16188889;16195237;16543152;16600869;16609022;17065437;17127106;17131038;17173071;17176113;17203305;17209556;17283177;17286973;17321545;17355977;17526740;17855454;18006695;18039710;18161950;18270339;18313385;18471977;18676680;18686630;18937502;19104052;19120024;19147782;19167932;19170196;19237606;19329428;19330779;19336415;19339270;19536092;19625176;19635489;19692168;19713937;19747104;19838217;19842163;20006562;20150366;20226869;20302655;20303835;20403997;2040602;20423048;20459144;20465217;20496165;20519499;20522537;20526335;20574454;20805875;21107011;21139048;21305655;21362556;21733843;21739967;21757740;21884718;22070286;22082156;22162999;22341651;22373917;22379092;22573322;22577134;22692827;22799326;22901161;23013478;23098424;23117284;23144153;23144635;23144716;23585564;23602568;23749489;23798703;23827680;23877444;23959474;24133209;2423078;24348210;2460824;3182828;3284575;7705833;7914364;8125298;8168825;8769567;8841118;8841119;8841120;8889548;8978692;9207062;9287163;9294209;9572863 5423 B7Z1W5;E5RG65;E5RHZ4;E5RIJ0;E5RJ55;E7EW18;E9PIC6;H0YAV8;H0YB29;H0YBJ0;H0YBX1;P06746 ABBA01021153;ABBA01021154;ABBA01021155;AC083973;AC107885;AF491812;AK223537;AK294025;AK314976;AMYH02017891;AMYH02017892;AMYH02017893;BC100288;BC106909;BM678092;BP370570;CH471080;CR536503;CR541802;D29013;J04201;JQ664683;JQ927442;L11607;M13140;NM_002690;S82473;U10526;X68633;XM_005273535;XM_005273536;XM_005273537;XM_005273538;XM_005273539;XM_005273540;XM_006716353;XR_428311 AAA60133;AAA60134;AAB37518;AAB59441;AAB60688;AAI00289;AAI06910;AAL91594;AFI72772;BAA06099;BAD97257;BAG37475;BAH11651;CAA48603;CAG38741;CAG46601;EAW63221;NP_002681;P06746;XP_005273592;XP_005273593;XP_005273594;XP_005273595;XP_005273596;XP_005273597;XP_006716416 Hs.654484 1687009;2146973;5037598;5037600;5037602;5037604;5037606;5117036 D8S2286;D8S2287;D8S2288;D8S2289;D8S2290;GDB:384702;RH25936;SGC31519 MGC125976 DNA pol beta;DNA polymerase beta;DNA polymerase beta subunit;OTTHUMP00000225870;OTTHUMP00000225872;OTTHUMP00000226045;OTTHUMP00000226048;mutant DNA polymerase beta APPROVED protein-coding ENSG00000070501 HGNC:9174 07517 174760 VALIDATED 1320615 POGZ pogo transposable element with ZNF domain The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010] 1 1 1 q21.3 124490466 124547192 - 151375200 151445753 - 151402724 151459465 - 1580863;6480464;8554872 10976766;11076863;11230166;12477932;12880961;15302935;15489334;15489336;16381901;16710414;17081983;18029348;18654987;19244240;19394292;20360068;20379614;20562864;20936779;21139048;21252943;21832049;21888893;21890473;22094256;22586326;22990118;23000965;23720494;24457600;25027693;9455484 23126 A6PW30;E9PIR8;E9PJY9;H0YCT3;H7C238;M0R2X2;Q7Z3K3 AB007930;AB037911;AB075477;ABBA01049394;ABBA01049395;ABBA01049396;AJ242979;AK000199;AK299791;AK300307;AK302501;AL589764;AMYH02001881;AMYH02001882;AMYH02001883;AMYH02001884;AW167360;BC042018;BC057773;BX537561;BX537838;BX649163;CH471121;NM_001194937;NM_001194938;NM_015100;NM_145796;NM_207171;XM_005244999;XM_005245000;XM_005245001;XM_005245003;XM_005245004;XM_005245005;XM_005245006;XM_006711237 AAH57773;AAI66671;BAA32306;BAB87117;BAE45744;BAG61670;BAG62060;BAG63781;CAB45136;CAD97850;CAL37797;EAW53436;EAW53437;EAW53438;EAW53439;EAW53440;EAW53441;NP_001181866;NP_001181867;NP_055915;NP_665739;NP_997054;Q7Z3K3;XP_005245056;XP_005245057;XP_005245058;XP_005245060;XP_005245061;XP_005245062;XP_005245063;XP_006711300 Hs.489873 1775624;1799330;1799828;1800526;1801160;1804036;1806660;1807658;1808918;1809108;1812054;1812604;1814386;1815720;1815834;1816586;1816588;1816724;1817254;1817572;1818530;1820092;1821168;1821994;1821996;1822268;1823158;1824462;1827268;1828494;1829338;1830594;1832058;1833456;1834420;1839122;1839482;1840482;1840612;1841644;1841782;1843324;1844266;1845176;1845628;1846276;1926336;1926338;1926340;1926342;1926344;1926346;1926348;1926350;1926352;1926354;1926356;1926358;1926360;1926362;1926364;1926366;1926368;1926370;1926372;1926374;1926376;1926378;1926380;1926382;1926384;1926386;1926388;1926390;1926392;1926394;1926396;1926398;1926400;1926402;1926404;1926406;1926408;1926410;1926412;1926414;1926416;1926418;1926420;1926422;1926424;1926426;1926428;1926430;1926432;1926434;1926436;1926438;1926440;1926442;1926444;1926446;1926448;1926450;1926452;1926454;1926456;1926458;1926460;1926462;1926464;1926466;1926468;1926470;1926472;1926474;1926476;1926478;1926480;1926482;1926484;1926486;1926488;1926490;1926492;1926494;1926496;1926498;1926500;1926502;1926504;1926506;1926508;1926510;1926512;1926514;1926516;1926518;1926520;1926522;1926524;1926526;1926528;1926530;1926532;1926534;1926536;1926538;1926540;1926542;1926544;1926546;1926548;1926550;1926552;1926554;1926556;1926558;1926560;1926562;1926564;1926566;1926568;1926570;1926572;1926574;1926576;1926578;1926580;1926582;1926584;1926586;1926588;1926590;1926592;1926594;1926596;1926598;1926600;1926602;1926604;1926606;1926608;1926610;1926612;1926614;1926616;1926618;1926620;1926622;1926624;1926626;1926628;1926630;1926632;1926634;1926636;1926638;1926640;1926642;1926644;1926646;1926648;1926650;1926652;1926654;1926656;1926658;1926660;1926662;1926664;1926666;1926668;1926670;1926672;1926674;1926676;1926678;1926680;1926682;1926684;1926686;1926688;1926690;1926692;1926694;1926696;1926698;1926700;1926702;1926704;1926706;1926708;1926710;1926712;1926714;1926716;1926718;1926720;1926722;1926724;1926726;1926728;1926730;1926732;1926734;1926736;1926738;1926740;1926742;1926744;1926746;1926748;1926750;1926752;1926754;1926756;1926758;1926760;1926762;1926764;1926766;1926768;1926770;1926772;1926774;1926776;1926778;1926780;1926782;1926784;1926786;1926788;1926790;1926792;1926794;1926796;1926798;1926800;1926802;1926804;1926806;1926808;1926810;1926812;1926814;1926816;1926818;1926820;1926822;1926824;1926826;1926828;2125717;2179613;2207724;2207726;2207728;2207730;2207732;2207734;2207736;2207738;2207740;2207742;2207744;2207746;2207748;2207750;2207752;2207754;2207756;2207758;2207760;2207762;2207764;2207766;2207768;2207770;2207772;2219534;5093596;5119484;5491322 A009S25;D20S1077;ECD00514;ECD00768;ECD01123;ECD01452;ECD02934;ECD04287;ECD04801;ECD05442;ECD05542;ECD07032;ECD07312;ECD08222;ECD08898;ECD08957;ECD09335;ECD09336;ECD09406;ECD09677;ECD09836;ECD10327;ECD11119;ECD11661;ECD12083;ECD12084;ECD12220;ECD12667;ECD13329;ECD14749;ECD15374;ECD15800;ECD16433;ECD17167;ECD17871;ECD18358;ECD20740;ECD20923;ECD21427;ECD21496;ECD22019;ECD22090;ECD22870;ECD23347;ECD23805;ECD24032;ECD24358;G32812;MARC_9783-9784:996688605:1;POGZ__5744;REN33994;REN33995;REN33996;REN33997;REN33998;REN33999;REN34000;REN34001;REN34002;REN34003;REN34004;REN34005;REN34006;REN34007;REN34008;REN34009;REN34010;REN34011;REN34012;REN34013;REN34014;REN34015;REN34016;REN34017;REN34018;REN34019;REN34020;REN34021;REN34022;REN34023;REN34024;REN34025;REN34026;REN34027;REN34028;REN34029;REN34030;REN34031;REN34032;REN34033;REN34034;REN34035;REN34036;REN34037;REN34038;REN34039;REN34040;REN34041;REN34042;REN34043;REN34044;REN34045;REN34046;REN34047;REN34048;REN34049;REN34050;REN34051;REN34052;REN34053;REN34054;REN34055;REN34056;REN34057;REN34058;REN34059;REN34060;REN34061;REN34062;REN34063;REN34064;REN34065;REN34066;REN34067;REN34068;REN34069;REN34070;REN34071;REN34072;REN34073;REN34074;REN34075;REN34076;REN34077;REN34078;REN34079;REN34080;REN34081;REN34082;REN34083;REN34084;REN34085;REN34086;REN34087;REN34088;REN34089;REN34090;REN34091;REN34092;REN34093;REN34094;REN34095;REN34096;REN34097;REN34098;REN34099;REN34100;REN34101;REN34102;REN34103;REN34104;REN34105;REN34106;REN34107;REN34108;REN34109;REN34110;REN34111;REN34112;REN34113;REN34114;REN34115;REN34116;REN34117;REN34118;REN34119;REN34120;REN34121;REN34122;REN34123;REN34124;REN34125;REN34126;REN34127;REN34128;REN34129;REN34130;REN34131;REN34132;REN34133;REN34134;REN34135;REN34136;REN34137;REN34138;REN34139;REN34140;REN34141;REN34142;REN34143;REN34144;REN34145;REN34146;REN34147;REN34148;REN34149;REN34150;REN34151;REN34152;REN34153;REN34154;REN34155;REN34156;REN34157;REN34158;REN34159;REN34160;REN34161;REN34162;REN34163;REN34164;REN34165;REN34166;REN34167;REN34168;REN34169;REN34170;REN34171;REN34172;REN34173;REN34174;REN34175;REN34176;REN34177;REN34178;REN34179;REN34180;REN34181;REN34182;REN34183;REN34184;REN34185;REN34186;REN34187;REN34188;REN34189;REN34190;REN34191;REN34192;REN34193;REN34194;REN34195;REN34196;REN34197;REN34198;REN34199;REN34200;REN34201;REN34202;REN34203;REN34204;REN34205;REN34206;REN34207;REN34208;REN34209;REN34210;REN34211;REN34212;REN34213;REN34214;REN34215;REN34216;REN34217;REN34218;REN34219;REN34220;REN34221;REN34222;REN34223;REN34224;REN34225;REN34226;REN34227;REN34228;REN34229;REN34230;REN34231;REN34232;REN34233;REN34234;REN34235;REN34236;REN34237;REN34238;REN34239;REN34240;RH12094;RH65906;stSG627168;stSG627169;stSG627170;stSG627171;stSG627172;stSG627173;stSG627175;stSG627176;stSG627177;stSG627180;stSG627183;stSG627184;stSG627185;stSG627186;stSG627187;stSG627188;stSG627189;stSG627191;stSG627192;stSG627196;stSG627197;stSG627198;stSG627199;stSG627200;stSG627204 KIAA0461;MGC71543;SUHW5;ZNF280E;ZNF635;ZNF635m OTTHUMP00000014468;OTTHUMP00000014469;OTTHUMP00000014470;OTTHUMP00000042874;OTTHUMP00000203655;OTTHUMP00000235067;putative protein product of Nbla00003;suppressor of hairy wing homolog 5;zinc finger protein 280E;zinc finger protein 635 APPROVED protein-coding ENSG00000143442 HGNC:18801 11445 614787 REVIEWED 1323795 POLD3 polymerase (DNA-directed), delta 3, accessory subunit This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012] 11 11 11 q14 71610396 71660533 + 74303575 74380386 + 74592530 74669341 + 1580863;2306716;6480464;6907045;7246935 18157157;21601536 10219083;10559261;10822372;10852724;11328591;11473323;11595739;12171929;12477932;15576034;15701600;16000169;16510448;16763556;16934752;16935576;17081983;17932049;18029348;18157942;18765914;18818516;19237606;19471022;21139048;21252943;21670149;21693764;21832049;22148433;22634755;22801543;22863883;22902628;22939629;23254330;24035200;24310611;24695737;24778252;24816145;7584026;7584028;7910606;9099749;9111189 10714 E9PM91;E9PNC0;E9PRK3;H0YD46;H0YEX7;Q15054 ABBA01017481;AK297375;AK302677;AK316301;AK316370;AMYH02025108;AP001104;AP001324;BC020587;BC032636;BC041703;BC058840;BC092454;BC108908;BC108909;CH471076;D26018;DC402448;NM_006591;NR_046409;NR_046410;XM_005273716;XR_428902;XR_428903 AAH20587;AAH32636;AAH92454;AAI08909;AAI08910;BAA05039;BAG59818;BAG63909;BAH14672;BAH14741;EAW74942;EAW74943;NP_006582;Q15054;XP_005273773 Hs.82502 1660089;1670242;1695292;1719179;1777903;1856512;2217772 D11S4332;POLD3_3528;RH121316;RH12784;RH25276;SHGC-63006;STS-D26018 KIAA0039;MGC119642;MGC119643;P66;P68;PPP1R128 DNA polymerase delta subunit 3;DNA polymerase delta subunit p66;DNA polymerase delta, subunit 3;OTTHUMP00000230480;OTTHUMP00000230481;OTTHUMP00000230482;Pol delta C subunit (p66);polymerase (DNA directed), delta 3 APPROVED protein-coding ENSG00000077514 HGNC:20932 11446 611415 REVIEWED 1344068 POLE3 polymerase (DNA directed), epsilon 3, accessory subunit POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004] 9 9 9 q33 86817115 86820629 - 116169515 116173029 - 113407235 113410749 - 1580863;6480464;6907045;7246936;9495920 12806123;21358755 10801849;10880450;11000277;12477932;14500819;14702039;14759371;15164053;15489334;16189514;16344560;17081983;18838386;19471022;21139048;21172662;21705323;21832049;21890473;21906983;22190034;22242598;22863883;22939629;23000965;24816145;8619474;9110174 54107 Q9NRF9 ABBA01042684;AF070640;AF226077;AF261689;AK074629;AK074762;AK074782;AK092840;AK096050;AL137066;AMYH02021510;AY720898;BC003166;BC004170;CH471090;CQ783515;CQ783655;DA477404;DA521953;DA908447;DQ072116;NM_001278255;NM_017443;NR_027261 AAF72417;AAF90133;AAH03166;AAH04170;AAU15052;AAY57326;ADZ15955;BAC11099;BAC11190;BAC11206;CAF86695;CAF86796;EAW87381;EAW87382;NP_001265184;NP_059139;Q9NRF9 Hs.108112 1655260;1676820;2132880;2139799 D9S2097;RH15642;RH17227;SHGC-24263 CHARAC17;CHRAC-17;CHRAC17;YBL1;asTP;huCHRAC17;p17 DNA polymerase II subunit 3;DNA polymerase epsilon p17 subunit;DNA polymerase epsilon subunit 3;DNA polymerase epsilon subunit p17;OTTHUMP00000021954;OTTHUMP00000021955;arsenic transactivated protein;arsenic-transactivated protein;chromatin accessibility complex 17 kDa protein;histone fold protein CHRAC17;polymerase (DNA directed), epsilon 3 (p17 subunit) APPROVED protein-coding ENSG00000148229 HGNC:13546 06274 607267 VALIDATED 1317190 POLE4 polymerase (DNA-directed), epsilon 4, accessory subunit POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004] 2 2 2 p12 75017063 75028146 + 75185775 75196859 + 74958648 74969732 + 1580863;6480464;6907045;7246936 12806123 10801849;12477932;14500819;15489334;15815621;18838386;21900206;22053931;22190034;22939629;24250222 56655 Q9NR33 ABBA01075616;AC007400;AF261688;AI815728;AMYH02004094;AY034104;BC031331;BU597500;CA454961;CF529348;CH471053;NM_019896 AAF90132;AAH31331;AAY15030;EAW99597;EAW99598;EAW99599;NP_063949;Q9NR33 Hs.469060 1853114;2148040 D2S2045;SHGC-61984 YHHQ1;p12 DNA polymerase II subunit 4;DNA polymerase epsilon p12 subunit;DNA polymerase epsilon subunit 4;DNA polymerase epsilon subunit p12;OTTHUMP00000160432;polymerase (DNA-directed), epsilon 4 (p12 subunit) APPROVED protein-coding HGNC:18755 16238 607269 VALIDATED 1348983 POLE polymerase (DNA directed), epsilon, catalytic subunit This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013] 12 12 12 q24.3 132900080 132958351 - 133200344 133264050 - 132623762 132687524 - 1580863;6480464;6907045;7246935;7246936;8699517;8554872 12806123;21601536 10215605;10559260;10673506;10801849;10982879;11395493;11741962;12045100;12171929;12393188;12477932;14500819;14667819;14671302;14702039;16762037;1730053;17314511;17353931;17855454;18247557;18976975;19074885;19129559;19237606;20226869;20227374;20379614;20496165;20503108;20522537;20574454;20677014;20826785;21110914;21139048;21157497;21705323;21757740;21890473;21906983;21963094;22190034;22465957;22474384;22586326;22678362;22887995;22939629;23000965;23093410;23230001;23263490;23447401;23528559;23891004;24020356;24051051;24472300;24509466;24525744;24816145;24844595;24958773;6693436;8020968;8486689;8639508;9111189;9121429;9563011 5426 B3KS74;F5H1D6;F5H7E4;Q07864 ABBA01012376;ABBA01012377;ABBA01012378;ABBA01012379;AC131212;AC135586;AF127975;AF128542;AF128544;AK025087;AK093003;AK128248;AL080203;AMYH02027590;AMYH02027591;AY273166;AY405840;BC007599;BC011376;BC021559;BC087613;BC144561;BX647647;CH471218;CX782956;HI574320;L09561;NG_033840;NM_006231;S60080;U49356 AAA15448;AAA90924;AAC19148;AAD44690;AAD44691;AAD44692;AAD45663;AAH07599;AAH21559;AAH87613;AAI72436;AAP12650;BAB15063;BAG52636;CAB45774;CBX47649;EAW54830;EAW54831;EAW54832;EAW54833;EAW54834;NP_006222;Q07864 Hs.524871 1856750;2170046 A004B47;RH64926 CRCS12;DKFZp434F222;FILS;FLJ21434;POLE1 DNA polymerase II subunit A;DNA polymerase epsilon catalytic subunit A;OTTHUMP00000237674;OTTHUMP00000237676 APPROVED protein-coding ENSG00000177084 HGNC:9177 07177 174762 REVIEWED 1323687 POLE2 polymerase (DNA directed), epsilon 2, accessory subunit ENCODES a protein that exhibits DNA binding (inferred); DNA-directed DNA polymerase activity (inferred); INVOLVED IN DNA biosynthetic process (inferred); DNA repair (inferred); DNA replication (inferred); PARTICIPATES IN base excision repair pathway; DNA replication pathway; nucleotide excision repair pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN epsilon DNA polymerase complex; intracellular membrane-bounded organelle; nucleus; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; 17beta-estradiol 14 14 14 q21-q22 29970096 30014595 - 50110270 50155098 - 49643552 49688380 - 1580863;6480464;6907045;7246936;8554872 12806123 10801849;11329013;11433027;11872158;12045100;12477932;14500819;15489334;16169070;18029348;18676977;19237606;19505873;20065316;21139048;21705323;21906983;21963094;22505724;22939629;23000965;6693436;9111189;9405441;9443964 5427 P56282;Q86SY9;U3KQ22 ABBA01018113;ABBA01018114;AF025840;AF036899;AF387034;AK293163;AK314963;AL139099;AL591767;AMYH02029149;AMYH02029150;BC112962;BC126218;BC126220;BG189206;BX248064;CH471078;EF506887;NM_001197330;NM_001197331;NM_002692 AAC39610;AAC51920;AAI12963;AAI26219;AAI26221;AAK72254;ABO43040;ADR83207;BAG56707;CAD62358;EAW65754;NP_001184259;NP_001184260;NP_002683;P56282 Hs.162777 1656335;1687982;1729688;2127419;2137488;2137868;2155402;2167401 AFMA086YH5;D14S58;G35645;G35903;G36030;G36218;RH98671;SHGC-53864 DPE2 DNA polymerase II subunit 2;DNA polymerase epsilon subunit 2;DNA polymerase epsilon subunit B;OTTHUMP00000244475;OTTHUMP00000244476;OTTHUMP00000244477;polymerase (DNA directed), epsilon 2 (p59 subunit) APPROVED protein-coding ENSG00000100479 HGNC:9178 16007 602670 VALIDATED 1312978 POLG2 polymerase (DNA directed), gamma 2, accessory subunit This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009] 17 17 17 q 56943739 56963326 - 62473902 62493184 - 64477785 64497066 - 1580863;6480464;7240710;8554872;8699517;8694187 22229649 10608893;10666468;10677218;12379656;12477932;16263719;16685652;16697732;17494052;18063578;18575922;19478085;19625489;19837034;19858216;19913121;20628086;20843780;20877624;21110914;21555342;21734712;22155748;24140708;24250222;9153213 11232 E5KS15;J3KRM2;J3QRU9;Q9UHN1 ABBA01035296;ABBA01035297;ABBA01035298;AC009994;AC138744;AC234063;AF142992;AF177201;AF184344;AK307801;AMYH02033792;BC000913;BC009194;BI826587;CH471109;HQ205826;HQ205827;HQ205828;HQ205829;HQ205830;HQ205831;HQ205832;HQ205834;HQ205835;HQ205836;HQ205837;HQ205838;HQ205839;HQ205840;HQ205841;HQ205842;HQ205843;HQ205844;HQ205845;HQ205846;HQ205847;HQ205848;HQ205849;HQ205850;HQ205851;HQ205852;HQ205853;HQ205854;HQ205855;HQ205856;HQ205857;HQ205858;HQ205859;HQ205860;HQ205861;HQ205862;HQ205863;HQ205864;HQ205865;NG_013029;NM_007215;U94703;XM_006721651;XR_243630 AAC51321;AAD50382;AAD56542;AAD56640;AAH00913;AAH09194;ADP91694;ADP91695;ADP91696;ADP91697;ADP91698;ADP91699;ADP91700;ADP91702;ADP91703;ADP91704;ADP91705;ADP91706;ADP91707;ADP91708;ADP91709;ADP91710;ADP91711;ADP91712;ADP91713;ADP91714;ADP91715;ADP91716;ADP91717;ADP91718;ADP91719;ADP91720;ADP91721;ADP91722;ADP91723;ADP91724;ADP91725;ADP91726;ADP91727;ADP91728;ADP91729;ADP91730;ADP91731;ADP91732;ADP91733;EAW94204;NP_009146;Q9UHN1;XP_006721714 Hs.437009 1665121;1699176 RH103168;WI-22548 HP55;MTPOLB;PEOA4;POLB;POLG-BETA;POLGB;p55 DNA polymerase gamma accessory 55 kDa subunit;DNA polymerase subunit gamma-2, mitochondrial;mitochondrial DNA polymerase accessory subunit;mitochondrial DNA polymerase subunit gamma-2;mitochondrial DNA polymerase, accessory subunit APPROVED protein-coding ENSG00000256525 HGNC:9180 09228 604983;610131 REVIEWED 1313103 POLI polymerase (DNA directed) iota ENCODES a protein that exhibits damaged DNA binding (inferred); DNA-directed DNA polymerase activity (inferred); metal ion binding (inferred); INVOLVED IN DNA biosynthetic process (inferred); DNA repair (inferred); DNA replication (inferred); FOUND IN intracellular; intracellular membrane-bounded organelle; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; coumestrol 18 18 18 q21.1 48652149 48680898 + 51795849 51837583 + 54269479 54320843 + 6480464 10458907;10856253;10887158;11013228;11076863;11205331;11230166;11251121;11256614;11356150;11387224;11402031;11515498;11707422;11724965;12410315;12426396;12466554;12477932;12606586;12777390;14630940;14701763;14702039;15189446;15199127;15231748;15254543;15313897;15342632;15489334;15489336;15609317;15657443;16166652;16189514;16195237;16344560;16354708;16357261;16381901;16472831;16527824;16763556;16914729;17056006;17609217;18029348;18194848;18270339;18799611;18923427;18931444;18984581;19060904;19074885;19116388;19162565;19170759;19237606;19368886;19440206;19604477;19767609;19789190;19861517;20159559;20226869;20453000;20496165;20574454;20673215;20961860;21139048;21300901;21454642;21832049;21890473;21906983;22505724;22817454;23000965;23248005;23727064;23922701;23965998;24250222;24532793 11201 J3KQ09;J3KRG0;J3KRS8;J3KSW2;J3KTM8;J3KTN3;J3QQZ8;J3QR36;Q9UNA4;X6R2I3 ABBA01018716;AC093462;AF140501;AF245438;AK093688;AK226057;AK301578;AL136670;AMYH02034755;AMYH02034756;AY094607;BC032617;BC032662;BM993293;BX649100;CH471096;DA315805;DB450447;NM_007195;XM_005258188;XM_005258191;XM_005258192;XM_006722376;XM_006722377;XM_006722378 AAD50381;AAF63383;AAH32662;AAM11872;ABM81819;ABM87810;BAH13516;CAB66605;CAL37856;EAW63000;EAW63001;NP_009126;Q9UNA4;XP_005258245;XP_005258248;XP_005258249;XP_006722439;XP_006722440;XP_006722441 Hs.438533 1697720;1724717;1794724;2131564;2187430;2217778;5015861;7185938 D10S16;PMC35453P1;POLI_3544;RH102380;RH122562;RH67916;WI-11064 RAD30B;RAD3OB;eta2 DNA polymerase iota;OTTHUMP00000163557;RAD30 homolog B;polymerase (DNA-directed), iota protein-coding ENSG00000101751 HGNC:9182 16094 605252 VALIDATED 732179 POLG polymerase (DNA directed), gamma Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q25 66260895 66279201 - 89859536 89878026 - 89316305 89334795 - 1580900;737726;1580863;6480464;7240710;8694184;8694170;8554872;8694191;8694284;8694093;8694298;8694301;8694285;8699517;8694183;8694187;8694201;8694161;8694177;8694175;8694282;2317139;8694317;8694320;8694203;8694204;8694202;8694163;8694182;8694192;8694283 11431686;12565911;12825077;12975295;15164064;15351195;15689359;15824347;16181814;16401742;16595552;16619054;16634032;16896309;17310215;17420318;18238797;18295498;18585914;20803511;20837861;21664445;22229649;22237560;22616202;22743328;23865558 10827171;11687794;11756592;11897778;12036482;12144777;12210792;12477932;12645575;12686611;12707443;12857740;12872260;14688158;14694057;14729924;14739292;14745080;15122711;15177179;15181170;15181541;15349879;15356024;15477547;15489334;15534189;15650046;15694274;15929042;15981013;16024923;16080118;16130100;16263719;16327803;16392637;16464011;16487403;16488880;16490220;16545482;16553026;16574152;16639411;16682683;16751776;16929381;16943369;16957900;16970152;16987890;17005553;17005554;17088268;17209437;17300808;17339235;17426723;17436221;17650502;17650503;17711845;17725985;17846414;17894835;17923349;18062861;18063578;18080848;18193045;18195151;18270339;18294203;18316366;18321754;18446310;18446447;18487244;18500570;18502641;18504126;18546343;18546365;18575922;18581472;18632724;18798765;18828154;19010300;19043662;19054397;19189930;19237606;19243043;19251978;19275594;19425506;19435586;19478085;19501198;19566497;19578034;19629138;19730927;19752458;19762913;19807024;19813183;19815814;19837034;20138553;20142534;20153822;20176107;20181062;20198856;20220442;20301334;20301358;20301382;20301791;20399836;20400524;20438629;20467438;20513108;20522537;20558295;20601675;20643228;20685647;20691285;20701905;20734064;20800603;20818669;20818731;20826197;20843780;20877624;20883824;20927567;21038416;21102476;21138766;21228000;21357833;21455106;21550804;21670405;21696159;21704543;21778232;21824913;21856450;21880868;21906983;21953457;21963094;21993618;22000311;22084276;22194617;22267201;22276120;22334187;22517274;22528963;22552686;22577219;22580846;22647225;22684821;22711370;22728862;22729384;22963882;23066759;23208208;23250882;23251356;23446635;23448099;23525847;23543747;23625061;23673011;23912752;23962909;24067899;24122062;24398692;24841123;3619920;8884268;9034326;9119411;9465903;9742236 5428 E5KNU5;H0YCD2;H0YCV2;H0YD36;H0YDF1;H0YE43;P54098 ABBA01053007;AC124068;AF497906;AK130624;AK291281;AL110092;AMYH02031018;AW015913;AY377897;BC042571;BC050559;CH471101;D84103;DQ285412;DQ285413;DQ578997;DQ599934;HQ205386;HQ205387;HQ205388;HQ205389;HQ205390;HQ205391;HQ205392;HQ205393;HQ205394;HQ205395;HQ205396;HQ205397;HQ205398;HQ205400;HQ205401;HQ205402;HQ205404;HQ205405;HQ205406;HQ205407;HQ205408;HQ205409;HQ205410;HQ205411;HQ205412;HQ205413;HQ205414;HQ205415;HQ205417;HQ205418;HQ205419;HQ205420;HQ205421;HQ205422;HQ205423;HQ205424;HQ205425;NG_008218;NM_001126131;NM_002693;U60325;U74651;X98093 AAB18268;AAC50712;AAH42571;AAH50559;AAM77583;AAR32994;ABB89206;ABB89207;ADP90854;ADP90855;ADP90856;ADP90857;ADP90858;ADP90859;ADP90860;ADP90861;ADP90862;ADP90863;ADP90864;ADP90865;ADP90866;ADP90868;ADP90869;ADP90870;ADP90872;ADP90873;ADP90874;ADP90875;ADP90876;ADP90877;ADP90878;ADP90879;ADP90880;ADP90881;ADP90882;ADP90883;ADP90885;ADP90886;ADP90887;ADP90888;ADP90889;ADP90890;ADP90891;ADP90892;ADP90893;BAA12223;BAF83970;CAA66719;EAX02045;EAX02046;EAX02047;NP_001119603;NP_002684;P54098 Hs.706868 1685854;1767839;1789925;1789927;2112936;2112980;2122034;2135114;2168462;2191791;5094845 D15S1388;D15S1449E;G16014;MARC_7859-7860:996688105:3;POLG;RH67845;RH68306;RH77770;RH93713;csnppolg-pcr2-1;csnppolg-pcr23-1 FLJ27114;MDP1;MTDPS4A;MTDPS4B;PEO;POLG1;SCAE DNA polymerase subunit gamma-1;MIRAS;OTTHUMP00000194455;OTTHUMP00000236192;POLGA;PolG, catalytic subunit;PolG-alpha;SANDO;dna polymerase gamma;mitochondrial DNA polymerase catalytic subunit APPROVED protein-coding ENSG00000140521 HGNC:9179 01438 157640;174763;203700;258450;607459;613662 REVIEWED 1322337 POLDIP3 polymerase (DNA-directed), delta interacting protein 3 This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 22 q13.2 26890208 26921446 - 42979727 43010968 - 42583721 42614962 - 6480464;6484113 10591208;11258795;12477932;12522211;12529303;15341740;15461802;15489334;15635413;16196087;16984396;18029348;18423201;19615732;20360068;20811636;21139048;21890473;21906983;21907836;22121224;22586326;22900096;22939629;23084401;23145069;23398456;24457600;24816145;25049393 84271 B4DMM2;B4E0L0;F8WCX5;F8WEE2;Q659C6;Q6R954;Q9BY77 AB055760;ABBA01017933;AK024626;AK291623;AK291774;AK297532;AK299751;AK303419;AL080227;AL137743;AL160111;AL160112;AMYH02038463;AMYH02038464;AY422990;AY506562;BC001488;BC007397;BC019643;BC049840;BC056912;BC095411;BE268664;CH471138;CR456456;DC368557;DQ887818;NM_001278657;NM_032311;NM_178136;NR_103820;Z93241 AAH01488;AAH19643;AAH49840;AAH56912;AAH95411;AAQ94604;AAR91612;ABI74675;BAB33368;BAF84312;BAF84463;BAG59934;BAG61641;BAG64472;CAB77058;CAB77059;CAG30342;CAH56378;CAK54437;CAK54736;EAW73264;EAW73265;EAW73266;EAW73267;NP_001265586;NP_115687;NP_835237;Q9BY77 Hs.505802 1658905;1680240;1682750;1689099;1701746;2130459;2156694;2156822 AL008665;D22S1560;D22S965E;G19963;RH10763;RH28567;WI-18150;WIAF-2172 KIAA1649;PDIP46;SKAR;p46 46 kDa DNA polymerase delta interaction protein;OTTHUMP00000198658;OTTHUMP00000198659;RNA-binding protein P46;S6K1 Aly/REF-like target;polymerase delta interacting protein 46;polymerase delta-interacting protein 3 APPROVED protein-coding ENSG00000100227 HGNC:23782 17875 611520 REVIEWED 1343998 POLK polymerase (DNA directed) kappa External and internal DNA-damaging agents continually threaten the integrity of genetic material in cells. Although a variety of repair mechanisms exist to remove the resulting lesions, some lesions escape repair and block the replication machinery. Members of the Y family of DNA polymerases, such as POLK, permit the continuity of the replication fork by allowing replication through such DNA lesions. Each Y family polymerase has a unique DNA-damage bypass and fidelity profile. POLK is specialized for the extension step of lesion bypass (summary by Lone et al., 2007 [PubMed 17317631]).[supplied by OMIM, Jan 2010] 5 5 5 q13 70701054 70789056 + 74807657 74895646 + 75511832 75601144 + 1580863;6480464;7246935 21601536 10518552;10620008;10760255;10887153;11024016;11784855;11842189;11994005;12145297;12414988;12444249;12477932;12952891;14630940;14702039;15147214;15189446;15199127;15296733;15380106;15489334;15533436;15601657;15661663;15817457;15938713;15989980;16055723;16218959;16354708;16611994;16751196;17099721;17317631;17494052;18079151;18512958;18931375;19117014;19170759;19188081;19237606;19341290;19492058;19542228;19628463;19939936;20164241;20227374;20379614;20496165;21078407;21139048;21396873;21454642;22157819;22227292;22487424;22505724;22772988;23056190;23558743;23731732;23799366;24012694;24038355;24553286 51426 D6R9M8;D6RAE5;D6RAI7;D6RDX9;Q9UBT6 AB027564;AB036934;AB036935;AB209291;ABBA01061945;AC010245;AC026424;AC116341;AF163570;AF194973;AF315602;AF318313;AK026316;AK091659;AK314610;AMYH02011590;AY273797;AY769929;AY769930;AY769931;AY769932;BC014955;BC041798;BC050718;CH471084;NM_016218;XM_005248534;XM_005248536;XM_006714650;XM_006714651;XM_006714652;XR_241783;XR_241784;XR_427713;XR_427714 AAF02540;AAF23270;AAH14955;AAH50718;AAN15780;AAN15781;AAP12648;AAV80827;AAV80828;AAV80829;AAV80830;BAA86943;BAB58975;BAB58976;BAC03714;BAD92528;BAG37179;EAW95762;EAW95763;EAW95764;EAW95765;NP_057302;Q9UBT6;XP_005248591;XP_005248593;XP_006714713;XP_006714714;XP_006714715 Hs.135756 1775478;1785260;1794728;2154085;5022200;5024761;5117897 G16063;GDB:631813;L18426;PMC35453P3;RH36905;SHGC-105127;SHGC-33559 DINB1;DINP;POLQ DNA polymerase kappa;OTTHUMP00000128303;OTTHUMP00000222073;OTTHUMP00000222074;OTTHUMP00000222123;OTTHUMP00000222124;OTTHUMP00000222125;OTTHUMP00000222127 APPROVED protein-coding ENSG00000122008 HGNC:9183 09291 605650 VALIDATED 1354283 POLN polymerase (DNA directed) nu ENCODES a protein that exhibits cyclin binding; DNA-directed DNA polymerase activity; INVOLVED IN double-strand break repair via homologous recombination; interstrand cross-link repair; translesion synthesis; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus 4 4 4 p16.3 1985702 2143306 - 2073645 2243848 - 2071918 2229231 - 1580863;8554872 12794064;14702039;16611994;17118716;19908865;19995904;20102227;20379614;20554254;20967207;21242293;21671477;22008035;22159054;22262850;22456510;22623772;23045531;24768535 353497 H0YA88;Q7Z5Q5 ABBA01029517;ABBA01029518;ABBA01029519;ABBA01029520;AF044578;AK131239;AK303673;AL122048;AL136360;AL158068;AMYH02008600;AMYH02008601;AMYH02008602;AMYH02008603;AMYH02008604;AY136549;BX509164;CH471131;DQ060036;NM_181808 AAD02338;AAI46298;AAI56717;AAI56872;AAN52116;AAY43130;BAD18421;BAG64670;EAW82538;EAW82539;NP_861524;Q7Z5Q5 Hs.368454 1668897;1699102;1730000;1857295;2117872;2119870;2120927;2124423;2145262;5022200;5022651 D11S2921;D4S1182;D4S166;D4S573;D4S608;G01869;G16699;G34191;L18426;RH103127;SHGC-50695 POL4P DNA polymerase N;DNA polymerase POL4P;DNA polymerase nu;OTTHUMP00000114827;OTTHUMP00000216538 protein-coding ENSG00000130997 HGNC:18870 17876 610887 VALIDATED 1345694 POLR1A polymerase (RNA) I polypeptide A, 194kDa ENCODES a protein that exhibits DNA binding (inferred); DNA-directed RNA polymerase activity (inferred); zinc ion binding (inferred); INVOLVED IN gene expression (inferred); termination of RNA polymerase I transcription (inferred); transcription elongation from RNA polymerase I promoter (inferred); PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 2 2 2 p11.2 86081632 86161424 - 86253451 86333278 - 86026328 86106155 - 1580863;6480464;6907045;8554872 10477523;10567578;11250903;12393749;12446911;12477932;12646563;14743216;15226435;15342556;16196087;16514417;16618798;17620599;17643375;19214185;19596686;19615732;20379614;20541997;21139048;21878508;21890473;21906983;21963094;22106380;22147730;22505724;22586326;22751105;22939629;23000965;24250222;24457600;24639526;24816145;9236775;9285060;9582279 25885 B9ZVN9;F2Z3I7;O95602;Q9H6T2 ABBA01075772;AC009309;AC012511;AK025568;AK294447;AK302458;AK304131;AK307490;AL117467;AMYH02004189;AMYH02004190;AMYH02004191;BC017115;BC073968;BC117173;BC126303;BC143345;BP363163;CH471053;NM_015425;U33460;XM_006711983 AAC99959;AAH17115;AAI17174;AAI26304;AAI43346;AAY24277;BAB15171;BAH11770;BAH13716;BAH14113;CAB55942;EAW99467;EAW99468;EAW99469;NP_056240;O95602;XP_006712046 Hs.531818 1689642;1783970;2128155 RH94225;SHGC-132988;SHGC-58379 A190;DKFZp586M0122;FLJ21915;MGC87965;RPA1;RPA194;RPO1-4;RPO14 DNA-directed RNA polymerase I largest subunit;DNA-directed RNA polymerase I subunit A;DNA-directed RNA polymerase I subunit A1;DNA-directed RNA polymerase I subunit RPA1;OTTHUMP00000203249;OTTHUMP00000203250;RNA polymerase I 194 kDa subunit;RNA polymerase I subunit A1 protein-coding ENSG00000068654 HGNC:17264 10161 VALIDATED 1317912 POLM polymerase (DNA directed), mu ENCODES a protein that exhibits DNA binding (inferred); DNA polymerase activity (inferred); DNA-directed DNA polymerase activity (inferred); INVOLVED IN DNA biosynthetic process (inferred); DNA recombination (inferred); DNA repair (inferred); PARTICIPATES IN non-homologous end joining pathway of double-strand break repair; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; amphotericin B 7 7 7 p13 44209796 44220079 - 44111846 44122129 - 44072062 44082540 - 1580863;6480464;6907045;8662352;8554872 20192759 10737800;10747040;10982892;11724965;11972346;11974916;12077346;12228225;12368208;12477932;12640116;14581466;14702039;15199127;15504045;15520469;16061182;16963491;17588522;19237606;19805281;22897684;23034807;23143108;23275568;23933132;23935073;24487959;24878922 27434 C9J222;C9JF34;F8WB78;F8WDE4;F8WEJ1;H7C2M2;Q6PIY2;Q9H980;Q9NP87 AA917987;ABBA01058213;AC017116;AF176097;AJ131891;AK023002;AK092801;AK092903;AK291638;AK294449;AK307634;AMYH02015615;AU309799;AY899911;BC026306;BC035685;BC049202;BC062590;BI001584;CH236960;CH471128;DC407437;NM_001284330;NM_001284331;NM_013284;NR_104299;XM_005249708;XM_005249711;XM_006715692;XM_006715693;XM_006715694;XM_006715695;XM_006715696;XM_006715697;XM_006715698;XM_006715699;XM_006715700;XM_006715701;XR_242073;XR_242074;XR_428076 AAF26284;AAH26306;AAH49202;AAH62590;AAW65376;BAB14353;BAF84327;BAG57686;CAB65075;EAW61120;EAW61121;EAW61122;EAW61123;EAW61124;EAW61125;EAW61126;EAW61127;NP_001271259;NP_001271260;NP_037416;Q9NP87;XP_005249765;XP_005249768;XP_006715755;XP_006715756;XP_006715757;XP_006715758;XP_006715759;XP_006715760;XP_006715761;XP_006715762;XP_006715763;XP_006715764 Hs.596982;Hs.598038 1778236;1789929;1789931;1789933;1789935;1789937;1789939;1789941;1789943;1789945;2217782 GDB:4585669;POLM_3577;csnppolm-pcr1-1;csnppolm-pcr11-1;csnppolm-pcr2-1;csnppolm-pcr3-1;csnppolm-pcr4-1;csnppolm-pcr6-1;csnppolm-pcr7-1;csnppolm-pcr8-1;csnppolm-pcr9-1 FLJ35482;Pol Mu;Tdt-N DNA polymerase mu;DNA-directed DNA/RNA polymerase mu;OTTHUMP00000207777;OTTHUMP00000207780;OTTHUMP00000207782;Pol iota;polymerase (DNA-directed), mu;terminal transferase protein-coding ENSG00000122678 HGNC:9185 16208 606344 VALIDATED 1317600 POLL polymerase (DNA directed), lambda This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010] 10 10 10 q23 97077425 97086813 - 103338639 103348027 - 101578882 101588270 - 1580863;6480464;6907045;8662352 20192759 10887191;10966791;10982892;11457865;11784855;11821417;11974915;12081642;12368291;12477932;12683997;12809503;12829698;12911298;14561766;14627824;14657033;14702039;14992725;15157109;15164054;15202001;15350147;15358682;15489334;15537631;15608652;15665310;15979954;16174846;16189514;16385451;16522650;16675458;16807316;17005572;17321545;17507928;17588522;17653665;17666409;17686665;18688254;18692600;19060005;19074885;19104052;19120024;19237606;19467241;19701199;19806195;19820168;19900463;20164241;20348107;20423048;20435673;20693240;20805875;20851705;20975951;21145461;21486570;21757740;21832049;22317757;22373917;22584622;23118481;23330920;23935073 27343 A8K860;B4DE17;B4DEF5;B7Z1M4;Q5JQN9;Q5JQP0;Q5JQP1;Q5JQP2;Q5JQP3;Q5JQP4;Q5JQP7;Q5JQP8;Q9HAJ3;Q9HBN3;Q9UGP5 ABBA01063193;AF161019;AF218027;AF283478;AF525924;AJ131890;AJ844641;AJ844642;AK021600;AK022476;AK091106;AK094956;AK127896;AK292225;AK293421;AK293602;AK293657;AK300862;AL627424;AL702021;AMYH02023678;AX879164;AY302442;BC003548;BC068529;CH471066;DC296090;DC379162;DC409528;NG_017063;NM_001174084;NM_001174085;NM_013274;NR_033406;XM_006717770;XM_006717771;XM_006717772;XM_006717773;XM_006717774;XM_006717775;XM_006717776;XM_006717777;XM_006717778;XM_006717779 AAF27541;AAG17269;AAG22519;AAH03548;AAH68529;AAM77696;AAQ74388;BAB13852;BAB14050;BAF84914;BAG54595;BAG56928;BAG57066;BAG62511;BAH11560;CAB65074;CAE90392;CAH59753;CAH59754;EAW49757;EAW49758;EAW49759;EAW49760;EAW49761;EAW49762;EAW49763;EAW49764;EAW49765;EAW49766;EAW49767;EAW49768;NP_001167555;NP_001167556;NP_037406;Q9UGP5;XP_006717833;XP_006717834;XP_006717835;XP_006717836;XP_006717837;XP_006717838;XP_006717839;XP_006717840;XP_006717841;XP_006717842 Hs.523230 1653764;2217780 POLL_3576;STS-W69567 FLJ46002 BETAN;DNA polymerase beta-2;DNA polymerase beta-N;DNA polymerase kappa;DNA polymerase lambda;OTTHUMP00000020320;OTTHUMP00000020321;OTTHUMP00000020322;OTTHUMP00000020323;OTTHUMP00000020326;POLKAPPA APPROVED protein-coding ENSG00000166169 HGNC:9184 09394 606343 REVIEWED 1348858 POLR1B polymerase (RNA) I polypeptide B, 128kDa Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008] 2 2 2 q13 106685049 106720277 + 113298676 113334727 + 112541915 112577153 + 1580863;6480464;6907045;8554872 11250903;11592397;11953755;11981034;12393749;12477932;12646563;14702039;14743216;15226435;15558034;15815621;16055704;16514417;16880508;17474147;17499043;17620599;18029348;18194663;19214185;19615732;20211142;21139048;21145461;21555369;21890473;21906983;21963094;21988832;22505724;22939629;24332808;24816145;8921381;9254723;9582279 84172 B7Z1W6;C9JJG2;C9JS83;F5H643;F8WAK7;F8WBB9;F8WCS3;F8WDS4;H7C0D9;Q9H9Y6 AA484631;ABBA01074257;AC012442;AK001678;AK022533;AK022890;AK025574;AK128044;AK172817;AK294027;AK301178;AK302814;AMYH02004591;BC004882;BC073857;BC096748;BC110833;BC150139;BX647360;BX647683;CH471217;NM_001137604;NM_001282772;NM_001282774;NM_001282776;NM_001282777;NM_001282779;NM_019014 AAH04882;AAH73857;AAH96748;AAI10834;AAX81999;BAA91831;BAB14082;BAB14296;BAB15175;BAC87247;BAH11652;BAH13423;BAH13809;EAW73590;EAW73591;EAW73592;EAW73593;NP_001131076;NP_001269701;NP_001269703;NP_001269705;NP_001269706;NP_001269708;NP_061887;Q9H9Y6 Hs.745127 1699442;1772423;2114076;2217784;5014029;5015861;5022200;7185938 AB070203;D10S16;D13S1639;D2S1838;L18426;POLR1B_3628;RH103312 FLJ10816;FLJ21921;MGC131780;RPA135;RPA2;Rpo1-2 DNA-directed RNA polymerase I 135 kDa polypeptide;DNA-directed RNA polymerase I 135kDa polypeptide;DNA-directed RNA polymerase I subunit RPA2;OTTHUMP00000161989;OTTHUMP00000203643;OTTHUMP00000203645;RNA polymerase I subunit 2 APPROVED protein-coding ENSG00000125630 HGNC:20454 06852 602000 VALIDATED 1320324 POLQ polymerase (DNA directed), theta ENCODES a protein that exhibits DNA-directed DNA polymerase activity; single-stranded DNA-dependent ATPase activity; INVOLVED IN ATP catabolic process; DNA biosynthetic process; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleoplasm (inferred); INTERACTS WITH (-)-demecolcine; atrazine; benzo[a]pyrene diol epoxide I 3 3 3 q13.33 119560070 119674301 - 121150273 121264853 - 121431420 121546006 - 1580863;6480464;8554872 10395804;12051913;14576298;14735462;15342556;15496986;16188888;16222339;16520097;16603639;16824193;16835218;17150533;17353931;18270339;18366182;18503084;19188258;19237606;19661089;20624954;20700469;22135286;23502783;24648516;7829101 10721 O75417;Q59EE4 AA767021;AB209867;ABBA01016483;ABBA01016484;ABBA01016485;ABBA01016486;AC069239;AC079841;AF043628;AF052573;AF090919;AMYH02007524;AMYH02007525;AW021928;AY032677;AY338826;BC034254;BP365212;CH471052;CR936627;NM_199420;XM_006713480 AAC33565;AAD05272;AAF24036;AAI72289;AAK39635;AAR08421;BAD93104;CAI56770;EAW79510;EAW79511;EAW79512;EAW79513;EAW79514;NP_955452;O75417;XP_006713543 Hs.241517 1338678;1738457;1759295;1771073;1784640;1789947;1789949;1789951;1789953;1789955;1789957;1789959;1789961;1789963;1789965;1789967;1789969;1789971;1789973;1789975;2185946;5015619;5037552 A005M24;D11S3114;D3S3154;D3S3709;D8S2279;SHGC-132148;SHGC-13740;SHGC-151004;csnppolq-pcr1-1;csnppolq-pcr1-2;csnppolq-pcr1-3;csnppolq-pcr1-4;csnppolq-pcr1-5;csnppolq-pcr10-1;csnppolq-pcr11-1;csnppolq-pcr12-1;csnppolq-pcr13-1;csnppolq-pcr14-1;csnppolq-pcr3-1;csnppolq-pcr6-1;csnppolq-pcr7-1;csnppolq-pcr8-1;csnppolq-pcr9-1 DKFZp781A0112;POLH;PRO0327 DNA polymerase eta;DNA polymerase theta;OTTHUMP00000215154 protein-coding ENSG00000051341 HGNC:9186 10375 604419 VALIDATED 1602318 POLR1E polymerase (RNA) I polypeptide E, 53kDa ENCODES a protein that exhibits DNA binding (inferred); DNA-directed RNA polymerase activity (inferred); RNA polymerase I transcription factor binding (inferred); INVOLVED IN rRNA transcription (ortholog); PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; FOUND IN nucleolus (ortholog); INTERACTS WITH aflatoxin B1; formaldehyde; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 p13.2 37419179 37436922 + 37485945 37503694 + 37485935 37503697 + 6480464;6907045 11698641;12429849;12477932;14585813;14613906;14627545;14702039;14743216;15164053;15226435;15489334;16514417;17353931;17620599;18029348;18239623;18854154;19214185;19615732;20379614;21139048;21263028;21549307;21906983;21963094;22939629;22990118;23000965;24207024;24457600;24816145;8125298;8641287;9254723 64425 B4E005;E7EX70;Q9GZS1 ABBA01050394;AK023452;AK024032;AK091294;AK125471;AK225050;AK301347;AK302345;AK303167;AL158156;AMYH02019496;BC001337;BC009757;BC014180;BC014331;BC017766;CH471071;CR457313;NM_001282766;NM_022490;XM_005251547 AAH01337;AAH14331;BAB14579;BAB14791;BAC03629;BAG62895;BAG63673;BAG64267;CAG33594;EAW58280;EAW58281;NP_001269695;NP_071935;Q9GZS1;XP_005251604 Hs.591087;Hs.733126 1762603;2125602;2217692;5037552 D8S2279;PAF53_3619;SHGC-146404;WI-21785 FLJ13390;FLJ13970;FLJ43482;PAF53;PRAF1;RP11-405L18.3 DNA-directed RNA polymerase I subunit E;DNA-directed RNA polymerase I subunit RPA49;OTTHUMP00000021385;OTTHUMP00000021386;RNA polymerase I associated factor 53;RNA polymerase I subunit A49;RNA polymerase I-associated factor 1;RNA polymerase I-associated factor 53;polymerase (RNA) I associated factor 1 protein-coding ENSG00000137054 HGNC:17631 15096 VALIDATED 1343756 POLR1D polymerase (RNA) I polypeptide D, 16kDa The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] 13 13 13 q12.2 9264634 9310177 + 28194880 28241559 + 27620743 27667422 + 1580863;6480464;6907045;7240710;8699517;8554872 11042152;12391170;12393749;12446911;12477932;12646563;14702039;14743216;15057823;15226435;15489334;15635413;16189514;16344560;17205138;17207965;17643375;18624398;19359472;19724895;19834535;19851296;20198315;20301704;21131976;21139048;21471979;21906983;21963094;21988832;22939629;24816145;8619474;8955128;9110174;9582279 51082 Q7Z776;Q9Y2S0 ABBA01035743;AF077044;AF131855;AK000623;AK097973;AK307356;AK311833;AL136439;AMYH02027756;AMYH02027757;BC000889;BC006972;BC015319;BC018528;BC054519;BI253733;BQ004736;CH471075;DB123903;DB455307;DB459107;DB518623;DR156229;NG_028908;NM_001206559;NM_015972;NM_152705;XM_005266412;XM_005266414 AAD27777;AAH00889;AAH06972;AAH15319;AAH18528;ADQ33152;BAG34775;EAX08415;EAX08416;NP_001193488;NP_057056;NP_689918;Q9Y2S0;XP_005266469;XP_005266471 Hs.507584;Hs.735744 1664771;1684842;1739139;2117022;2144262;2217786;5113944 A004N11;D13S1105;POLR1D_3586;RH11226;RH78750;WI-12381;WI-20489 AC19;FLJ20616;MGC9850;POLR1C;RPA16;RPA9;RPAC2;RPC16;RPO1-3;TCS2;hRPA19 DNA-directed RNA polymerase I subunit D;DNA-directed RNA polymerases I and III subunit RPAC2;OTTHUMP00000018171;OTTHUMP00000018172;RNA polymerase I 16 kDa subunit;RNA polymerases I and III subunit AC2 APPROVED protein-coding ENSG00000186184 HGNC:20422 14717;17877 613715;613717 REVIEWED 1348749 POLR2CP polymerase (RNA) II (DNA directed) polypeptide C, pseudogene 21 21 21 q11.2 1299611 1301274 + 16129879 16131542 + 14757558 14759221 + 10830953 54038 ABBA01057084;AF127936;AMYH02037521;NG_000915 pseudo HGNC:9190 INFERRED 1320482 POLH polymerase (DNA directed), eta This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] 6 6 6 p21.1 45095499 45139881 + 43543878 43588260 + 43576141 43620523 + 1580863;6480464;7240710;8554872;8699517 10385124;10398605;10856253;10871396;11032022;11121129;11376341;11554790;11585903;11743006;11756691;11773631;11821420;11994004;12244178;12426396;12477932;12509472;12584190;12606586;12644469;12644471;14523013;14574404;14585988;14630940;14702039;14734526;14760703;14999287;15051760;15147214;15149598;15189446;15342632;15359278;15380106;15489334;15569147;15758026;16061253;16116089;16357261;16449651;16675950;16710452;16763556;16823845;16824193;17081983;17304240;17334634;17344931;17563354;18029348;18068156;18242151;18321066;18368133;18512958;18634905;18703314;18799611;18946034;19001268;19069642;19108641;19117014;19157994;19170759;19237606;19380493;19477635;19661089;19703417;19806028;19822754;19939936;20008555;20028736;20064529;20129057;20159558;20173781;20215648;20301571;20457011;20498091;20577208;20819778;21098111;21139048;21242293;21396873;21640722;21690293;21704031;21791603;21832049;21855803;21890473;21906983;21963094;22056306;22118674;22154937;22367195;22456510;22505724;22529383;22623531;22691049;22828282;22902628;22981619;22989887;23000965;23033487;23042605;23248005;23345618;23388460;23499771;23609533;23630267;23630442;23731732;23761444;23901102;23913529;23965998;24130121;24449906;24485656;24553286;24639526;24716551 5429 B4DG64;Q5JTF2;Q9Y253 AB024313;AB038008;ABBA01050671;ABBA01050672;ABBA01050673;AF158185;AF241258;AJ420484;AK023893;AK025631;AK122807;AK294430;AK307660;AK316151;AL353602;AL355802;AMYH02013650;AY388614;BC015742;CH471081;DC416114;NG_009252;NM_001291969;NM_001291970;NM_006502;XM_005249186;XM_006715118 AAD43810;AAH15742;AAQ81300;BAA81666;BAB18601;BAG51237;BAG53738;BAG57675;BAH14522;EAX04209;EAX04210;EAX04211;EAX04212;NP_001278898;NP_001278899;NP_006493;Q9Y253;XP_005249243;XP_006715181 Hs.655467 1653650;1654944;1654946;1700258;1850026;1850028;2109685;2142613;5014051;5014063;5015404;5015619;5016478;5016596;5020740;5020885;5020946;5020948;5022200;5022578;5022651;5024413;5024756;5024761;5037552;5092348 A006I45;D11S2921;D11S3114;D15S1390;D1S1423;D6S2189;D8S2278;D8S2279;G20859;G35510;G49377;GDB:434012;GDB:631802;L17705;L17791;L17809;L17877;L17971;L18426;POLH_3410;RH103746;RH36905;RH46731;RH68887;RH80030;WI-20627 FLJ16395;FLJ21978;RAD30;RAD30A;XP-V;XPV DNA polymerase eta;OTTHUMP00000016478;OTTHUMP00000016480;RAD30 homolog A;xeroderma pigmentosum variant type protein APPROVED protein-coding ENSG00000170734 HGNC:9181 04913 278750;603968 REVIEWED 1320170 POLR1C polymerase (RNA) I polypeptide C, 30kDa The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Defects in this gene have been associated with Treacher Collins syndrome (TCS). [provided by RefSeq, Mar 2011] 6 6 6 p21.1 45036412 45048735 + 43484777 43497114 + 43517039 43529376 + 6480464;6907045;7240710;8554872;8699517 11042152;11790298;11971179;12391170;12393749;12446911;12477932;12646563;14574404;14743216;15226435;15489334;15592455;15635413;16189514;16196087;16341674;17148452;17207965;17353931;17620599;18247557;19214185;19615732;19738201;20301704;21131976;21139048;21145461;21890473;21906983;21963094;21988832;22505724;22863883;22939629;24250222;24816145;25027693;8955128;9254723;9540830;9582279;9653160 9533 D6RDJ3;E7EQB9;H0Y723;O15160 ABBA01050678;ABBA01050679;AF008442;AF047441;AK293561;AL355802;AMYH02013648;BC008118;BC008863;BM828768;BQ575535;CH471081;KF458158;NG_028283;NM_203290;XM_005249491 AAC14354;AAC39892;AAH08118;AAH08863;ADQ32708;BAG57033;EAX04204;EAX04205;EAX04208;NP_976035;O15160;XP_005249548 Hs.743509 1753367;1854795;1856171;2178284;2182049;5127465 D6S1161E;D6S1340;D6S1888;RH18413;SHGC-107161;SHGC-53217 AC40;RP3-337H4.4;RPA39;RPA40;RPA5;RPAC1;RPC40;TCS3 DNA-directed RNA polymerase I subunit C;DNA-directed RNA polymerases I and III 40 kDa polypeptide;DNA-directed RNA polymerases I and III subunit RPAC1;OTTHUMP00000016467;OTTHUMP00000016468;OTTHUMP00000016470;RNA polymerase I subunit;RNA polymerases I and III subunit AC1 APPROVED protein-coding ENSG00000171453 HGNC:20194 09661 248390;610060 REVIEWED 1315832 POLR2C polymerase (RNA) II (DNA directed) polypeptide C, 33kDa This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008] 16 16 16 q13-q21 41997403 42006773 + 57496551 57505921 + 57462639 57472009 + 1580863;6480464;6907045;8554872 10066804;10069959;10329125;10359081;10364292;10373521;10393184;10438593;10493829;10536359;10545121;10567706;10617616;10698937;10704353;10725406;10757782;10777215;10784442;10866664;10931842;10958691;11080476;11112772;11547919;11809800;12049628;12052871;12089333;12114499;12126615;12207009;12221105;12226669;12345;12379213;12477932;12634356;12642036;12676794;12775419;12860379;12887902;14569024;15175163;15282305;15489334;1559613;16055720;16141233;16169070;16196087;16289656;16455777;16838299;17168834;17643375;17661632;18029348;18218627;18247557;18469135;18562274;18854154;18991615;19237606;19240132;1939271;19526283;19738201;20133760;20227660;20421419;20471948;20508642;21139048;21145461;21217813;21360054;21406692;21693764;21729782;2187864;21900206;2190099;21906983;21963094;21972559;21987572;21988832;22211660;22229121;22421880;22422068;22446626;22505724;22567366;22863883;22939629;22990118;23028129;23087374;23274668;23667531;23827503;2449431;24550385;7638159;7853496;8034326;8637904;8676484;8800208;8849451;8876177;8910388;8934526;8946909;9054383;9121429;9184228;9201987;9311822;9315662;9334327;9405375;9409616;9488465;9491887;9512541;9540830;9570510;9607318;9651670;9696809;9765201;9790902;9852112;9874563 5432 H3BRR2;P19387;Q6FGR6 ABBA01025272;AC004382;AC009052;AF008443;AJ224143;AJ224144;AK293112;AK300124;AMYH02032109;BC000409;BC003159;BC028157;BI458170;CH471092;CR542041;J05448;NM_032940 AAA36586;AAC14355;AAC24309;AAH00409;AAH03159;AAH28157;ABM82337;ABM85512;ABW03756;BAF85801;BAH13217;CAA11842;CAA11843;CAG46838;EAW82926;EAW82927;EAW82929;EAW82930;NP_116558;P19387 Hs.79402 1683657;1736592;1769048;1853842;2134463;2152580;2153911;2189445;2217788 Bdac5g11;D16S2566E;D16S2591E;D16S3334;MARC_6240-6241:992007189:1;POLR2C_3412;RH78396;SHGC-61053;STS-J05448 RPB3;RPB31;RPB33;hRPB33;hsRPB3 DNA-directed RNA polymerase II 33 kDa polypeptide;DNA-directed RNA polymerase II subunit C;DNA-directed RNA polymerase II subunit RPB3;OTTHUMP00000164669;RNA polymerase II subunit 3;RNA polymerase II subunit B3 APPROVED protein-coding ENSG00000102978 HGNC:9189 15945 180663 REVIEWED 1352013 POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7414117 7444201 + 7387698 7417935 + 7484379 7514618 + 1580863;6480464;6907045;8554872 10024883;10066804;10069959;10075709;10199401;10329125;10359081;10364292;10373521;10393184;10393805;10438593;10454543;10454562;10490622;10536359;10545121;10567706;10574912;10617616;10620016;10698937;10704353;10725406;10737800;10757782;10773068;10784442;10866664;10908677;10931842;10932246;10944529;10958691;10983978;11080476;11112772;11149922;11238380;11278802;11313019;11459828;11504724;11547919;11575923;11683387;11714725;11809800;11940650;12036313;12049628;12052871;12054881;12062018;12089333;12114499;12126615;12145330;12154023;12168660;12198243;12200141;12221105;12226669;12234934;12358429;12372413;12376575;12379213;12381297;12391174;12435728;12477932;12560496;12565871;12579324;12588988;12591939;12604794;12612062;12634356;12642036;12660246;12665589;12676794;12721286;12775419;12861003;12887902;12914699;12955082;14506230;14536091;14569024;14576433;14578343;14580349;14612417;14627702;14684736;14701755;1487824;14963322;14992727;15009212;15099517;15144186;15175163;15235609;15282296;15282305;15302935;1542581;15494311;15502823;15542435;15546612;15565158;15570572;15592455;1559613;15613478;15632063;15640154;15711563;15808510;15829968;15863722;15886201;15890193;15919092;15989967;15999204;16009131;16055720;16061184;16086846;16109376;16118227;16195385;16196087;16199523;16210313;16239144;16246722;16289656;16314571;16319923;16327805;16341228;16344560;16491129;16735508;16838299;16916636;16936726;16949370;16957778;17011493;17028590;17050672;17098194;17168834;17210645;17218272;17234882;17283126;17314511;17353931;17376917;17525170;17526739;17584298;17643375;17661632;17996703;17998332;18029348;18032511;18079403;18079404;18209063;18218627;18247557;18285459;18294453;18342606;18391197;18408764;18419580;18464913;18562274;18588899;18624398;18632853;18815126;18854154;18991615;19037258;19106100;19141475;19214185;19237606;19240132;19249677;19270065;19309309;19322201;1939271;19454010;19526283;19913121;19920177;20081228;20083121;20085707;20133760;20178742;20227660;20308691;20360068;20421419;20471948;20508642;20516061;20541997;20628086;20861839;20864038;20941529;20972445;20978146;21030982;21072189;21088000;21139048;21145461;21235343;21264352;21326907;21329877;21360054;21406692;21536736;21693764;21729782;21782856;21873227;21880767;21890473;2190099;21906983;21963094;21972559;21987572;22020438;22053051;22053931;22108332;22178446;22195966;22211660;22229121;22253435;22261722;22343046;22421880;22422068;22446626;22505724;22549466;22567366;22586326;22605332;22684280;22863883;22895430;22939629;22966203;22988298;22990118;23000965;23028129;23064645;23086925;23087374;23100252;23192870;23274668;23319609;23349811;23395899;23401853;23638030;23748380;23752268;23825951;23827503;23906511;23994473;24086155;24165037;24250222;24360965;24457600;2449431;24550385;24591637;24639526;24778252;24793692;24816145;24828331;24837678;24957606;2999107;3145407;3860504;435297;4506230;6200476;7533294;7622068;7638159;7853496;7926747;8034326;8637904;8676484;8692842;8700522;8700889;8800208;8849451;8876177;8889548;8890175;8895581;8910388;8934526;8946909;9002523;9054383;9108033;9121429;9128241;9153302;9159119;9184228;9201987;9268387;9305852;9305922;9311784;9311822;9312053;9315662;9334327;9346935;9372911;9405375;9409616;9443979;9450929;9491887;9512541;9570510;9632813;9651670;9671816;9696809;9705270;9710619;9765201;9765293;9790902;9845365;9852112;9874563 5430 P24928 ABBA01054871;AC113189;AEKP01075050;AK293777;AK304882;AMYH02032905;AW589665;BC067295;BC107140;BC137231;BQ353795;BQ891728;BU730469;BU739765;CH471108;CV355924;DA923649;KF459569;KF459570;M21610;NG_027747;NM_000937;X59443;X63564;X74870;X74871;X74872;X74873;X74874 AAA60135;AAH67295;AAI37232;BAG57192;BAG65619;CAA45125;CAA52862;EAW90181;EAW90182;EAW90183;NP_000928;P24928 Hs.270017 1656096;1694780;1701498;1788944;2139511;5016915 G43606;RH104382;RH80168;UniSTS:225108;WI-1288;WI-16243 MGC75453;POLR2;RPB1;RPBh1;RPO2;RPOL2;RpIILS;hRPB220;hsRPB1 DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit;DNA-directed RNA polymerase II subunit A;DNA-directed RNA polymerase II subunit RPB1;DNA-directed RNA polymerase III largest subunit;POLRA;RNA polymerase II subunit B1;RNA-directed RNA polymerase II subunit RPB1 APPROVED protein-coding ENSG00000181222 HGNC:9187 08916 180660 REVIEWED 733856 POLR2G polymerase (RNA) II (DNA directed) polypeptide G This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq, Jan 2009] 11 11 11 q13.1 59857593 59862769 + 62529011 62534187 + 62761539 62766715 + 1300048;6480464;6907045 10066804;10069959;10329125;10359081;10364292;10373521;10393184;10438593;10536359;10545121;10567706;10617616;10698937;10704353;10725406;10757782;10777215;10784442;10866664;10931842;10958691;11080476;11112772;11547919;11809800;12049628;12052871;12089333;12114499;12126615;12221105;12226669;12379213;12477932;12634356;12642036;12676794;12775419;12887902;12912922;14569024;14667819;15175163;15282305;15489334;1559613;16282592;16289656;16327806;16838299;17168834;17643375;17661632;17848138;18218627;18562274;18991615;19240132;1939271;19526283;19615732;20133760;20227660;20471948;21139048;21360054;21729782;21890473;2190099;21906983;21963094;21972559;21987572;21988832;22211660;22229121;22422068;22567366;22939629;22990118;23000965;23028129;23073835;23087374;23274668;23827503;24457600;2449431;24550385;7579693;7638159;7853496;8637904;8676484;8800208;8849451;8876177;8910388;8934526;8946909;9054383;9121429;9184228;9201987;9256063;9311822;9315662;9334327;9405375;9409616;9488465;9491887;9512541;9528765;9570510;9651670;9696809;9704926;9765201;9790902;9852112;9874563 5436 E9PIU7;E9PKH3;E9PS03;H0YEE4;P62487 ABBA01003243;AK312131;AMYH02024898;AP001160;AW016747;BC112162;BC112164;BG530809;CH471076;NM_002696;U20659;U52427 AAA86500;AAB96827;AAI12163;AAI12165;BAG35067;EAW74090;EAW74091;EAW74092;NP_002687;P62487 Hs.14839 1767695;1768407;1775953 A004H14;SGC31630;SHGC-30229 MGC138367;MGC138369;RPB19;RPB7;hRPB19;hsRPB7 DNA directed RNA polymerase II 19 kda polypeptide;DNA-directed RNA polymerase II 19 kDa polypeptide;DNA-directed RNA polymerase II subunit G;DNA-directed RNA polymerase II subunit RPB7;OTTHUMP00000236339;RNA polymerase II 19 kDa subunit;RNA polymerase II seventh subunit;RNA polymerase II subunit B7;polymerase (rna) ii (dna directed)polypeptide g APPROVED protein-coding ENSG00000168002 HGNC:9194 15995 602013 REVIEWED 1318411 POLR2D polymerase (RNA) II (DNA directed) polypeptide D This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from this gene. [provided by RefSeq, Jul 2008] 2 2 2 q21 121914770 121926680 - 128603840 128615729 - 127846266 127858155 - 1580863;6480464;6907045 10066804;10069959;10329125;10359081;10364292;10373521;10393184;10438593;10536359;10545121;10567706;10617616;10698937;10704353;10725406;10757782;10777215;10784442;10866664;10931842;10958691;11080476;11112772;11547919;11809800;12049628;12052871;12089333;12114499;12126615;12221105;12226669;12379213;12393188;12477932;12634356;12642036;12676794;12775419;12887902;14569024;15175163;15282305;15489334;1559613;15604093;15893730;16239144;16282592;16289656;16838299;17168834;17643375;17661632;18218627;18562274;18991615;19237606;19322201;1939271;19526283;20133760;20211142;20227660;20471948;21139048;21145461;21360054;21729782;2190099;21906983;21972559;21988832;22422068;22567366;22939629;22990118;23028129;23087374;23274668;23827503;2449431;7638159;7853496;8637904;8676484;8800208;8849451;8876177;8910388;8934526;8946909;9054383;9121429;9184228;9311822;9315662;9334327;9405375;9409616;9491887;9512541;9528765;9570510;9651670;9696809;9765201;9790902;9852112;9874563 5433 E9PB93;E9PHV4;O15514 AA775787;ABBA01040190;AC006011;AC012306;AMYH02004741;BC002958;BC010427;BC017205;BC093795;BC093797;CH471103;NM_004805;U85510;U89387 AAC52056;AAC80226;AAH10427;AAH17205;AAH93795;AAH93797;AAX82034;AAY14877;EAW95344;EAW95345;NP_004796;O15514 Hs.715348 1682575;1693830;2139232;2144008;2217790 Cda1le02;G27355;POLR2D_3413;RH78016;SHGC-58198 HSRBP4;HSRPB4;RBP4;RPB16 DNA-directed RNA polymerase II 16 kDa polypeptide;DNA-directed RNA polymerase II subunit D;DNA-directed RNA polymerase II subunit RPB4;OTTHUMP00000162266;OTTHUMP00000203872;OTTHUMP00000205986;RNA polymerase II 16 kDa subunit;RNA polymerase II subunit B4;RNA polymerase II subunit hsRBP4 APPROVED protein-coding ENSG00000144231 HGNC:9191 16191 606017 REVIEWED 734063 POLR2F polymerase (RNA) II (DNA directed) polypeptide F This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 22 22 22 q13.1 22151393 22167047 + 38349674 38368463 + 37953667 37969312 + 1300048;6480464;6907045;8554872 10066804;10069959;10329125;10359081;10364292;10373521;10393184;10393248;10438593;10536359;10542096;10545121;10591208;10617616;10623476;10698937;10704353;10725406;10757782;10784442;10866664;10931842;10958691;11080476;11112772;11547919;11809800;12049628;12052871;12089333;12107410;12114499;12126615;12221105;12226669;12379213;12391170;12477932;12634356;12642036;12676794;12775419;12887902;14569024;14702039;15175163;15461802;15489334;1559613;15989967;16289656;16344560;16838299;17168834;17661632;18029348;18218627;18505059;18991615;19237606;19240132;1939271;19526283;20227660;20301612;20471948;21360054;21729782;21832049;21890473;2190099;21972559;22211660;22229121;22422068;22505724;22567366;23000965;23028129;23087374;23274668;23827503;24250222;2449431;24501781;7638159;7803819;7853496;8637904;8676484;8786150;8800208;8849451;8876177;8910388;8934526;8946909;9054383;9121429;9184228;9201987;9311822;9315662;9334327;9405375;9409616;9491887;9512541;9570510;9651670;9696809;9765201;9790902;9852112;9874563 5435 B0QYL8;B0QYL9;F8WC47;H0Y2U7;H0Y439;P61218;U3KPV3;U3KPY1;U3KQB0;U3KQQ7;U3KQS8 ABBA01055495;AF006501;AK026327;AK094034;AK098727;AK311128;AK311831;AL031587;AL832562;AMYH02038348;BC003582;BP195499;BU160667;BU634038;CA396447;CH471095;CR456546;CR457021;DA083933;DA203006;DA372532;DN989996;NM_001301129;NM_001301130;NM_001301131;NM_021974;NR_125371;XM_005261649;XR_109712;XR_112241;XR_172379;Z27113 AAH03582;BAC05392;BAG34773;CAA81629;CAG30432;CAG33302;CAK54577;CAK54876;EAW60202;EAW60203;NP_001288058;NP_001288059;NP_001288060;NP_068809;P61218;XP_005261706 Hs.436578;Hs.735742 5108401;5127505 D11S942E;RH71313 HRBP14.4;POLRF;RPABC14.4;RPABC2;RPB14.4;RPB6;RPC15 DNA directed RNA polymerase II 14.4 kda polypeptide;DNA-directed RNA polymerase II subunit F;DNA-directed RNA polymerases I, II, and III 14.4 kDa polypeptide;DNA-directed RNA polymerases I, II, and III subunit RPABC2;OTTHUMP00000199278;OTTHUMP00000199279;OTTHUMP00000199281;RNA Polymerase II subunit 14.4 kD;RNA polymerases I, II, and III subunit ABC2;RPB6 homolog APPROVED protein-coding ENSG00000100142 HGNC:9193 05105 604414 REVIEWED 1319837 POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa This gene encodes the second largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with at least two other polymerase subunits, forms a structure within the polymerase that maintains contact in the active site of the enzyme between the DNA template and the newly synthesized RNA. [provided by RefSeq, Jul 2008] 4 4 4 q12 55351060 55402358 + 57844944 57897334 + 56978943 57031168 + 1580863;6480464;6907045;8554872 10024883;10066804;10069959;10329125;10359081;10364292;10373521;10393184;10438593;10536359;10545121;10567706;10617616;10698937;10704353;10725406;10757782;10784442;10866664;10931842;10958691;11080476;11112772;11547919;11809800;12049628;12050112;12052871;12089333;12114499;12126615;12221105;12226669;12379213;12477932;12634356;12642036;12676794;12775419;12887902;14569024;14992727;15175163;1518060;15282305;15489334;1559613;15670829;15840729;15886393;16055720;16196087;16239144;16289656;16838299;17168834;17314511;17353931;17376917;17494052;17499043;17583472;17584298;17643375;17661632;17998332;18029348;18209063;18218627;18247557;18270511;18562274;18991615;19237606;19240132;19270065;1939271;19454010;19526283;19946888;20085707;20133760;20211142;20227660;20379614;20471948;20508642;20516061;20881960;21081187;21139048;21145461;21360054;21415862;21693764;21729782;21890473;2190099;21906983;21909106;21963094;21972559;21987572;22118674;22211660;22229121;22268729;22421880;22422068;22505724;22567366;22863883;22939629;22990118;23000965;23028129;23087374;2320128;23274668;23383273;23455922;23602568;23752268;23827503;24163370;24457600;2449431;24550385;24778252;24816145;25015289;25027693;7638159;7853496;8034326;8619474;8637904;8676484;8800208;8849451;8876177;8910388;8934526;8946909;9054383;9110174;9121429;9184228;9201987;9311822;9315662;9334327;9405375;9409616;9491887;9512541;9570510;9651670;9696809;9765201;9790902;9852112;9874563 5431 AAB23139;C9J2Y9;C9J4M6;C9JMN3;C9JZW8;P30876 ABBA01003448;ABBA01003449;AC069307;AF055028;AK289823;AK294901;AK295132;AK299090;AMYH02009272;BC023503;BC046499;CH471057;NM_000938;X63563 AAB23139;AAC09367;AAH23503;BAF82512;BAG57990;BAG58155;BAG61152;CAA45124;EAX05519;NP_000929;P30876 Hs.602757 1657203;1849404 D4S2603;SHGC-12841 POL2RB;RPB2;hRPB140;hsRPB2 DNA directed RNA polymerase II 140 kDa polypeptide, RNA polymerase II subunit 2, RNA polymerase II second largest subunit;DNA-directed RNA polymerase II 140 kDa polypeptide;DNA-directed RNA polymerase II subunit B;DNA-directed RNA polymerase II subunit RPB2;OTTHUMP00000158973;OTTHUMP00000201827;OTTHUMP00000218969;RNA polymerase II subunit 2;RNA polymerase II subunit B2 APPROVED protein-coding ENSG00000047315 HGNC:9188 15943 180661 REVIEWED 1314889 POLR2H polymerase (RNA) II (DNA directed) polypeptide H The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 3 q28 182522093 182527333 + 184079502 184086383 + 184361714 184368595 + 1580863;6480464;6907045 10066804;10069959;10329125;10359081;10364292;10373521;10393184;10438593;10536359;10545121;10567706;10617616;10698937;10704353;10725406;10757782;10777215;10784442;10866664;10931842;10958691;11080476;11112772;11547919;11790298;11809800;12049628;12052871;12089333;12114499;12126615;12221105;12226669;12379213;12391170;12393749;12477932;12634356;12642036;12646563;12676794;12775419;12887902;1403646;14569024;14743216;15146197;15175163;15489334;1559613;15635413;16196087;16239144;16632472;16838299;17168834;17283126;17353931;17643375;17661632;18029348;18218627;18247557;18562274;18976975;18991615;19214185;19237606;19240132;1939271;19471022;19526283;20133760;20227660;20237496;20471948;20864512;21139048;21360054;21406692;21729782;21890473;2190099;21906983;21963094;21972559;22053931;22211660;22229121;22422068;22567366;22863883;22939629;23028129;23087374;23274668;23349634;23443559;23824909;23827503;24250222;24457600;2449431;3754875;7638159;7651387;7853496;8524256;8637904;8676484;8800208;8849451;8876177;8910388;8934526;8946909;9054383;9121429;9184228;9201987;9311822;9315662;9334327;9405375;9409616;9491887;9512541;9570510;9582279;9651670;9696809;9765201;9790902;9852112;9874563 5437 C9JJJ9;C9JLU1;P52434 AA431357;ABBA01058445;ABBA01058446;AC078797;AI244238;AJ252079;AJ252080;AMYH02008305;BC000739;BG529732;BI603667;BM541682;BQ065952;BX283032;CH471052;CN368789;HY164762;HY178178;NM_001278698;NM_001278699;NM_001278700;NM_001278714;NM_001278715;NM_006232;U37689;XM_005247541;XM_006713666;XM_006713667;XM_006713668;XM_006713669;XM_006713670;Z49199 AAA91458;AAH00739;ABZ92526;CAA89060;CAB92189;EAW78246;EAW78247;NP_001265627;NP_001265628;NP_001265629;NP_001265643;NP_001265644;NP_006223;P52434;XP_005247598;XP_006713729;XP_006713730;XP_006713731;XP_006713732;XP_006713733 Hs.432574 1339634;1659907;1682531 D3S3578;RH91810;SHGC-35471 RPABC3;RPB17;RPB8;hRPB8;hsRPB8 DNA-directed RNA polymerase II subunit H;DNA-directed RNA polymerases I, II, and III 17.1 kDa polypeptide;DNA-directed RNA polymerases I, II, and III subunit RPABC3;OTTHUMP00000210505;OTTHUMP00000210507;OTTHUMP00000210508;OTTHUMP00000210509;OTTHUMP00000210511;OTTHUMP00000210512;RNA polymerases I, II, and III subunit ABC3;RPB8 homolog APPROVED protein-coding ENSG00000163882 HGNC:9195 09082 606023 REVIEWED 1313437 POLR2E polymerase (RNA) II (DNA directed) polypeptide E, 25kDa This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1019553 1028363 - 1086578 1095391 - 1086579 1095392 - 1580863;6480464;6907045 10066804;10069959;10329125;10359081;10364292;10373521;10393184;10438593;10536359;10545121;10567706;10617616;10698937;10704353;10725406;10757782;10784442;10866664;10931842;10958691;11080476;11112772;11278533;11547919;11790298;11809800;12049628;12052871;12089333;12114499;12126615;12221105;12226669;12379213;12391170;12393188;12477932;12634356;12642036;12676794;12737519;12775419;12887902;14569024;14615539;14702039;15057824;15175163;15282305;15489334;1559613;15635413;15923622;16055720;16169070;16169872;16212417;16239144;16289656;16838299;17168834;17207965;17620599;17643375;17661632;18218627;18562274;18991615;19214185;19237606;19240132;1939271;19450687;19526283;19615732;19773279;19875381;20133760;20211142;20227660;20371770;20471948;2071613;20843780;21139048;21145461;21310960;21360054;21360678;21729782;21890473;21900206;2190099;21906983;21963094;21972559;22102239;22118674;22178446;22211660;22229121;22252557;22422068;22505724;22567366;22623531;22863883;22939629;22990118;23028129;23087374;23274668;23402259;23602568;23827503;24332808;24457600;2449431;24550385;24816145;25036637;2753903;7638159;7828586;7853496;8034326;8637904;8676484;8800208;8849451;8876177;8910388;8934526;8946909;9054383;9054408;9121429;9184228;9201987;9311822;9315662;9334327;9405375;9409616;9488465;9491887;9512541;9570510;9651670;9696809;9765201;9790902;9852112;9874563 5434 B4DJ89;K7EJ87;K7EQN2;P19388 ABBA01002621;AC004151;AK122813;AK295975;AK312625;AMYH02035133;AMYH02035134;BC004441;BC034144;CH471139;D38251;DC414435;HQ206186;HQ206187;HQ206188;HQ206189;HQ206190;HQ206191;HQ206192;HQ206193;HQ206194;HQ206195;HQ206196;HQ206197;HQ206198;HQ206199;HQ206200;HQ206201;HQ206202;HQ206203;HQ206204;HQ206205;HQ206206;HQ206207;HQ206208;HQ206209;HQ206210;HQ206211;HQ206212;HQ206213;HQ206214;HQ206215;HQ206216;HQ206217;HQ206218;HQ206219;HQ206220;HQ206221;HQ206222;HQ206223;HQ206224;HQ206225;J04965;NM_002695;S42643;XM_005259579 AAA62401;AAB19339;AAC03238;AAH04441;AAH34144;ADP92094;ADP92095;ADP92096;ADP92097;ADP92098;ADP92099;ADP92100;ADP92101;ADP92102;ADP92103;ADP92104;ADP92105;ADP92106;ADP92107;ADP92108;ADP92109;ADP92110;ADP92111;ADP92112;ADP92113;ADP92114;ADP92115;ADP92116;ADP92117;ADP92118;ADP92119;ADP92120;ADP92121;ADP92122;ADP92123;ADP92124;ADP92125;ADP92126;ADP92127;ADP92128;ADP92129;ADP92130;ADP92131;ADP92132;ADP92133;ADQ32847;BAA07406;BAG35511;BAG58751;EAW69547;EAW69548;EAW69549;EAW69550;NP_002686;P19388;XP_005259636 Hs.24301 1676005;1734694;1848583;2191401;5015961 D15S1477;D19S692E;MARC_21329-21330:1023910044:1;RH25429;RH80177 RPABC1;RPB5;XAP4;hRPB25;hsRPB5 DNA directed RNA polymerase II 23 kda polypeptide;DNA-directed RNA polymerase II 23 kDa polypeptide;DNA-directed RNA polymerase II subunit E;DNA-directed RNA polymerase subunit RPABC1;DNA-directed RNA polymerases I, II, and III subunit RPABC1;RNA polymerases I, II, and III subunit ABC1;RPB5 homolog APPROVED protein-coding ENSG00000099817 HGNC:9192 15946 180664 REVIEWED 1604197 POLR2J2 polymerase (RNA) II (DNA directed) polypeptide J2 This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008] 7 7 q22.1 102277195 102312176 - 102636748 102671729 - 6480464;6907045 10784442;11747469;12036295;12477932;15586814;15987790;16751776;16913423;21890473;21906983;9847074 246721 A6NFM0;Q9GZM3 AB209398;AC004084;AC105052;AI073388;AJ277738;AJ277739;AMYH02016441;AMYH02016442;BC050598;BC056864;BC071870;BC086857;BC110985;DQ575764;NM_032959 AAH86857;AAP22341;AAP22342;BAD92635;CAC18329;NP_116581;Q9GZM3 Hs.610255;Hs.656696;Hs.700609;Hs.732239 5014029;5014749;5015861;5015961;5016478;5016944;5016959;5020948;5022200;5022450;5022578;5023327;5037552;5109281;5111975;5127386;7185938 D10S16;D10S275;D13S1639;D15S1477;D1S1423;D1S1425;D8S2279;G35510;G43579;GDB:434012;GDB:4585697;L18023;L18426;RH92722;RH93196;SHGC-31100 HRPB11B;MGC105050;MGC54043;RPB11b1 DNA directed RNA polymerase II polypeptide J-related;DNA-directed RNA polymerase II subunit J2;DNA-directed RNA polymerase II subunit RPB11-b1;OTTHUMP00000216459;RNA polymerase II subunit B11-b1 APPROVED protein-coding ENSG00000267645 HGNC:23208 17878 609881 REVIEWED 1320957 POLR2J polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 97125817 97127251 - 102113547 102119446 - 102473100 102478999 - 1580863;6480464;6907045 10066804;10069959;10329125;10359081;10364292;10373521;10393184;10438593;10536359;10545121;10617616;10698937;10704353;10725406;10757782;10783144;10784442;10866664;10931842;10958691;11080476;11112772;11547919;11809800;12036295;12049628;12052871;12089333;12114499;12126615;12207009;12221105;12226669;12379213;12477932;12634356;12642036;12676794;12775419;12853948;12887902;14569024;15175163;15282305;15489334;15586814;1559613;16289656;16341674;16838299;17168834;17643375;17661632;18218627;18562274;18854154;18991615;19237606;19240132;1939271;19526283;20133760;20227660;20471948;21139048;21360054;21729782;21890473;2190099;21906983;21972559;21988832;22022972;22211660;22229121;22422068;22567366;22990118;23000965;23028129;23087374;23274668;23827503;2449431;24816145;7638159;7853496;8637904;8676484;8797801;8800208;8849451;8876177;8910388;8934526;8946909;9054383;9121429;9184228;9201987;9311822;9315662;9334327;9405375;9409616;9491887;9512541;9570510;9607318;9651670;9696809;9765201;9790902;9852112;9874563 5439 P52435;Q9H1A6 ABBA01011281;AC093668;AC244503;AJ277928;AJ277929;AJ277930;AJ277932;AK290515;BC024165;BC040116;BC065711;BC139902;BC141830;BM545237;BM791979;L37127;NM_006234;X82385;X98433;XM_005250452 AAD05361;AAH24165;AAH65711;AAI39903;AAI41831;ABM84077;ABM87445;BAF83204;CAA57785;CAA67075;CAC18368;NP_006225;P52435;XP_005250509 Hs.654952 1651984;1654313;5014749 GDB:4585697;STS-H73947;STS-L37127 MGC71910;POLR2J1;RPB11;RPB11A;RPB11m;hRPB14 DNA-directed RNA polymerase II subunit J-1;DNA-directed RNA polymerase II subunit RPB11-a;OTTHUMP00000197252;RNA polymerase II 13.3 kDa subunit;RNA polymerase II subunit B11-a APPROVED protein-coding ENSG00000005075 HGNC:9197 16038 604150 REVIEWED 6480951 POLR2KP1 polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 1 12 12 49987874 49988041 + 49594091 49594258 + 100874515 ABBA01031528;AC020612;AMYH02026447;NG_032528;NG_032901 pseudo HGNC:42650 INFERRED 1352672 POLR2K polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008] 8 8 8 q22.2 97348231 97351622 + 101162839 101166230 + 100150611 100154002 + 1580863;6480464;6907045 10066804;10069959;10329125;10359081;10364292;10373521;10393184;10438593;10536359;10545121;10567706;10617616;10698937;10704353;10725406;10757782;10784442;10866664;10931842;10958691;11080476;11112772;11547919;11809800;12049628;12052871;12089333;12114499;12126615;12213660;12221105;12226669;12379213;12391170;12393749;12477932;12634356;12642036;12646563;12676794;12775419;12887902;1403646;14569024;15175163;15235609;15489334;1559613;16838299;17168834;17714821;18218627;18976975;18991615;19237606;1939271;19526283;19950226;20227660;21360054;21729782;21832049;2190099;21972559;22211660;22229121;22422068;22567366;23028129;23087374;23274668;23827503;2449431;7638159;7651387;7853496;8637904;8676484;8800208;8849451;8876177;8910388;8934526;8946909;9054383;9121429;9184228;9201987;9311822;9315662;9334327;9405375;9409616;9491887;9512541;9570510;9582279;9651670;9696809;9765201;9790902;9852112;9874563 5440 E5RGX2;P53803 ABBA01037563;AC025647;AJ252078;AMYH02018500;BC000806;BC018157;CH471060;CR456870;NG_033832;NM_005034;Z47727 AAH00806;AAH18157;ABM82085;ABM85266;CAA87656;CAB91873;CAG33151;EAW91798;EAW91799;NP_005025;P53803 Hs.351475 1673342;1679191;1751205;1786574;1858291;2133478;5093092 D8S1920;D8S1944;G32515;RH35979;RH67206;SHGC-105113;SHGC-132177 ABC10-alpha;RPABC4;RPB10alpha;RPB12;RPB7.0;hRPB7.0;hsRPB10a DNA directed RNA polymerases I, II, and III 7.0 kda polypeptide;DNA-directed RNA polymerase II subunit K;DNA-directed RNA polymerases I, II, and III subunit RPABC4;OTTHUMP00000227269;RNA polymerase II 7.0 kDa subunit;RNA polymerases I, II, and III subunit ABC4 APPROVED protein-coding ENSG00000147669 HGNC:9198 05826 606033 REVIEWED 1606853 POLR2J3 polymerase (RNA) II (DNA directed) polypeptide J3 This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008] 7 7 q22.1 102178365 102213107 - 102537919 102572660 - 6907045;6480464 11747469;12036295;12477932;15586814;15987790;16344560;16913423;21890473;21906983;23000965;9847074 548644 D6RAG0;E2QRJ6;E7EP90;E7EWC6;F8WF84;H0Y980;Q9GZM3;Q9H1A7 AC004084;AC093668;AC243838;AF468111;AJ277736;AJ277740;AJ277741;AJ277931;AMYH02016444;AMYH02016445;BC044209;BC113031;DA574442;DA580738;DB106772;NM_001097615;XM_006716032;XM_006716033 AAI56864;AAL87672;CAC18330;CAC18331;CAC18332;NP_001091084;Q9H1A7;XP_006716095;XP_006716096 Hs.610255;Hs.656696 5014749;5016944;5020948;5022200;5022450;5022578;5023327;5109281;5111975;5115298;5127386 D10S275;D1S1423;D1S1425;G35510;G43579;GDB:4585697;L17653;L18023;L18426;RH93196;SHGC-31100 MGC54043;POLR2J2;RPB11b1;RPB11b2 DNA-directed RNA polymerase II subunit 11;DNA-directed RNA polymerase II subunit J3;DNA-directed RNA polymerase II subunit RPB11-b2;OTTHUMP00000213584;OTTHUMP00000213586;OTTHUMP00000217200;OTTHUMP00000217203;RNA polymerase II subunit B11-b2 APPROVED protein-coding ENSG00000168255 HGNC:33853 18684 REVIEWED 6483760 POLR2KP2 polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 2 13 13 13 q14.2 29763214 29766723 - 48708092 48708689 - 48133956 48134553 - 100129174 ABBA01051003;AL158196;AMYH02028000;NG_027665 pseudo HGNC:42652 INFERRED 1319717 POLR2I polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008] 19 19 19 q12 33318792 33320387 - 36604611 36606206 - 36113709 36115304 - 1580863;6480464;6907045 10066804;10069959;10329125;10359081;10364292;10373521;10393184;10438593;10536359;10545121;10567706;10617616;10698937;10704353;10725406;10757782;10784442;10866664;10931842;10958691;11080476;11112772;11547919;11809800;12049628;12052871;12089333;12114499;12126615;12221105;12226669;12379213;12477932;12634356;12642036;12676794;12775419;12887902;14569024;15057824;15175163;15489334;1559613;16289656;16838299;17168834;17661632;18218627;18562274;18854154;18991615;19240132;1939271;19526283;19615732;20227660;20471948;21145461;21729782;2190099;21972559;21988832;22211660;22229121;22422068;22567366;22623531;22939629;22990118;23028129;23087374;23274668;23827503;24250222;2449431;24816145;7638159;7853496;8034326;8265347;8637904;8676484;8800208;8849451;8876177;8910388;8934526;8946909;9054383;9121429;9184228;9311822;9315662;9334327;9405375;9409616;9491887;9512541;9570510;9651670;9696809;9765201;9790902;9852112;9874563 5438 K7EK49;K7EKS1;K7ENX4;P36954 ABBA01018779;AD001527;AK312206;AMYH02036000;BC017112;BC017860;BC067794;NM_006233;Z23102 AAB51181;AAH17112;AAH67794;ABM84140;ABM87542;BAG35139;CAA80649;NP_006224;P36954 Hs.47062 5121352 RH78398 RPB9;hRPB14.5 DNA-directed RNA polymerase II 14.5 kDa polypeptide;DNA-directed RNA polymerase II subunit I;DNA-directed RNA polymerase II subunit RPB9;RNA polymerase II 14.5 kDa subunit;RNA polymerase II subunit B9;RPB14.5 APPROVED protein-coding ENSG00000105258 HGNC:9196 15944 180662 REVIEWED 1345066 POLR2LP polymerase (RNA) II (DNA directed) polypeptide L pseudogene 6 6 p21.3 31108504 31108690 + 31140727 31140913 + 21912425 493825 ABBA01038068;AL662833;AL662844;AL662867;AL773544;AMYH02013443;BX927139;CR753819;CR759815;NG_032026 pseudo HGNC:31340 INFERRED 1349201 POLR2L polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008] 11 11 11 p15 906402 909212 - 839721 842529 - 839721 842529 - 6480464;6907045 10066804;10069959;10329125;10359081;10364292;10373521;10393184;10438593;10474687;10536359;10545121;10567706;10617616;10698937;10704353;10725406;10757782;10784442;10866664;10931842;10958691;11080476;11112772;11547919;11809800;12049628;12052871;12089333;12114499;12126615;12221105;12226669;12379213;12391170;12477932;12634356;12642036;12676794;12775419;12887902;1403646;14569024;14743216;15175163;15231747;15489334;1559613;16189514;16838299;17168834;18218627;18976975;18991615;19214185;1939271;19526283;20133760;20227660;20471948;21139048;21360054;21729782;2190099;21906983;21972559;21988832;22211660;22229121;22242598;22422068;22567366;23000965;23028129;23087374;23274668;23827503;2449431;7638159;7651387;7853496;8524256;8637904;8676484;8786124;8800208;8849451;8876177;8889548;8910388;8934526;8946909;9054383;9121429;9184228;9201987;9311822;9315662;9334327;9405375;9409616;9491887;9512541;9570510;9651670;9696809;9765201;9790902;9852112;9874563 5441 P62875 ABBA01015212;AK311997;AMYH02024153;AP006623;BC005903;BC018649;BQ435190;BU679804;CH471158;CR536565;NM_021128;U37690;Z47728;Z47729 AAA91459;AAH05903;AAH18649;ABM84072;ABM87439;ABM87561;BAG34935;CAA87657;CAA87658;CAG38802;EAX02408;NP_066951;P62875 Hs.441072 1774445;2136711;2144767 RH121967;RH41790;RH48177 RBP10;RPABC5;RPB10;RPB10beta;RPB7.6;hRPB7.6;hsRPB10b DNA-directed RNA polymerase III subunit L;DNA-directed RNA polymerases I, II, and III subunit RPABC5;OTTHUMP00000164439;RNA polymerase II 7.6 kDa subunit;RNA polymerases I, II, and III subunit ABC5;RPB10 homolog APPROVED protein-coding ENSG00000177700 HGNC:9199 01155 601189 REVIEWED 1351468 POLR3B polymerase (RNA) III (DNA directed) polypeptide B This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 12 12 12 q23.3 106417035 106569571 + 106751436 106903976 + 106357658 106510198 + 737633;1580863;6480464;6907045;8699517;7240710;8554872 12477932 12391170;1403646;14702039;15489334;16344560;17643375;17903297;19331820;19609254;19615732;19631370;20379614;21139048;21890473;21906983;21963094;22036171;22036172;22855961;22889924;22939629;23124897;23355746;24250222;24501781;24816145;25027693 55703 F8VRU2;Q7Z3R8;Q9NW08 ABBA01053165;ABBA01053166;AC009721;AC078992;AC080012;AK001161;AK001250;AK090636;AK092031;AK122713;AK291635;AMYH02027129;AMYH02027130;AMYH02027131;AY092084;BC017501;BC033542;BC033724;BC046238;BX537447;BX648712;CH471054;DA236776;DB094040;KJ818092;NG_031837;NM_001160708;NM_018082;XM_006719498 AAH46238;AAM18214;AIJ28481;BAA91527;BAA91581;BAF84324;BAG52201;BAG52470;BAG53685;CAD97689;EAW97780;EAW97781;NP_001154180;NP_060552;Q9NW08;XP_006719561 Hs.610795;Hs.62696 1671908;1704146;1712428;1716615;1850157;2151907;2217792 D12S2107;G54249;POLR3B_3605;RH121563;RH44491;SHGC-79768;STS-R59312 C128;DKFZp686B10117;FLJ10388;HLD8;INMAP;RPC2 DNA-directed RNA polymerase III 127.6 kDa polypeptide;DNA-directed RNA polymerase III subunit B;DNA-directed RNA polymerase III subunit RPC2;OTTHUMP00000242757;OTTHUMP00000242758;OTTHUMP00000242759;RNA polymerase III subunit C2 APPROVED protein-coding ENSG00000013503 HGNC:30348 11447 614366;614381 REVIEWED 2302533 POLR2J4 polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene INTERACTS WITH methyl methanesulfonate 7 7 7 p13 43970361 43999268 - 43980494 44058748 - 43940895 44019149 - 6480464 11747469;12036295;12477932;15586814;16751776;9847074 84820 ABBA01058198;ABBA01058199;ABBA01058200;ABBA01058201;ABBA01058202;ABBA01058203;ABBA01058204;ABBA01058205;ABBA01058206;ABBA01058207;ABBA01058208;ABBA01058209;ABBA01058210;ABBA01058211;AC004951;AC004985;AC017116;AK296066;AMYH02015614;AMYH02015615;BC006435;BC017250;BC017341;BC062722;BC105584;BX537878;BX538054;CH236951;DQ598991;NR_003655 BAG58825 Hs.657028 1647987;1689452;1696990;2132399;2158410;5014749;5015861;5020968;5037552;5112349;7185938 A006U11;D10S16;D7S3265;D8S2279;GDB:4585697;RH101967;RH103905;RH35997;RH80360;SHGC-56058 MGC13098;RPB11-phi pseudo ENSG00000214783 HGNC:28195 PROVISIONAL 7241117 POLR3DP1 polymerase (RNA) III (DNA directed) polypeptide D, 44kDa pseudogene 1 10 10 10 69701018 69702191 + 76414714 76415887 + 74654956 74656129 + 100422384 ABBA01020278;AC012046;AMYH02023353;NG_025523;NG_030484 pseudo HGNC:45107 INFERRED 1323468 POLR3D polymerase (RNA) III (DNA directed) polypeptide D, 44kDa This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008] 8 8 8 q21 21064952 21071014 + 22102619 22108680 + 22245106 22251167 + 1580863;6480464;6907045 11279001;12391170;12477932;1403646;15489334;17081983;17207965;17643375;19471022;19631370;19953087;20211142;21252943;21693764;21900206;21906983;22189167;22939629;23505323;24816145;2714790;3683386;7799973;7947392 661 E5RHT4;E7EQ68;P05423 ABBA01005509;AC105206;AF346574;AK026588;AK295725;AMYH02017589;AY092086;BC000516;BC002603;BC003039;BC004484;BQ006609;CH471080;CR536509;CR541803;L15301;M17754;NM_001722 AAA51838;AAA72377;AAH02603;AAH04484;AAK15371;AAM18216;ADQ31797;BAG58566;CAG38747;CAG46602;EAW63689;EAW63690;EAW63691;EAW63692;NP_001713;P05423 Hs.148342 1722615;2151271;2218584;5114618 D8S1861;G60391;POLR3D_4179;RH11452 BN51T;RPC4;RPC53;TSBN51 BN51 (BHK21) temperature sensitivity complementing;DNA-directed RNA polymerase III 47 kDa polypeptide;DNA-directed RNA polymerase III subunit D;DNA-directed RNA polymerase III subunit RPC4;OTTHUMP00000224864;OTTHUMP00000224866;RNA polymerase III 47 kDa subunit;RNA polymerase III subunit C4;RPC53 homolog;temperature sensitive complementation, cell cycle specific, tsBN51 APPROVED protein-coding ENSG00000168495 HGNC:1080 01755 187280 REVIEWED 1317654 POLR3E polymerase (RNA) III (DNA directed) polypeptide E (80kD) ENCODES a protein that exhibits DNA-directed RNA polymerase activity (inferred); INVOLVED IN defense response to virus (inferred); gene expression (inferred); innate immune response (inferred); PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; DNA-directed RNA polymerase III complex; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; benzo[a]pyrene diol epoxide I 16 16 16 p12.2 21088628 21125238 + 22308696 22346424 + 22297375 22335103 + 1580863;6480464;6907045;8554872 10521666;10819331;12391170;12477932;1403646;14702039;15489334;16344560;17643375;18029348;19214185;19471022;19615732;21139048;21693764;8125298 55718 H3BM46;H3BMR4;H3BNJ0;H3BRY1;H3BS41;H3BSI5;H3BSM3;Q9NVU0 AA282721;AB040885;ABBA01003840;ABBA01003841;ABBA01003842;AC009034;AC092338;AC241556;AK001371;AK023160;AK023231;AK026645;AK130661;AK222671;AK222789;AK293300;AK296813;AK300735;AL048627;AW205673;AX876608;AY092085;BC000285;CH471249;DB047155;NM_001258033;NM_001258034;NM_001258035;NM_001258036;NM_018119;NR_047581;XM_006721063 AAH00285;AAM18215;BAA91655;BAA95976;BAB14437;BAB14481;BAD96509;BAG56821;BAG59386;BAG62408;CAE89351;EAW50605;EAW50606;EAW50607;EAW50608;NP_001244962;NP_001244963;NP_001244964;NP_001244965;NP_060589;Q9NVU0;XP_006721126 Hs.460298 1650188;1690800;2108379;2126961 D16S2974;POLR3E_8065;RH80971;STS-W72446 RPC5;SIN DNA-directed RNA polymerase III 80 kDa polypeptide;DNA-directed RNA polymerase III subunit RPC5;OTTHUMP00000120008;RNA polymerase III 80 kDa subunit RPC5;RNA polymerase III subunit C5 protein-coding ENSG00000058600 HGNC:30347 15155 VALIDATED 1315038 POLR3F polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 20 20 20 p11.23 18522122 18539370 + 18448033 18465287 + 18467389 18484648 + 1580863;6480464;6907045 10523658;10623476;11780052;12391170;12477932;1403646;14702039;15489334;16169070;16344560;17612402;18187620;19322201;19631370;20888865;21139048;21963094;21988832;22939629;23000965;23455924;8125298;8889549;9171375 10621 Q05DB8;Q53FI8;Q9H1D9 ABBA01054047;AK096684;AK223298;AK290892;AK314838;AL121893;AMYH02036780;BC012588;BC016761;CH471133;DA729767;N98418;NM_001282526;NM_006466;NR_104209;U93869 AAB63677;AAH12588;AAH16761;ABM83621;ABM87168;BAD97018;BAF83581;EAX10239;EAX10240;EAX10241;NP_001269455;NP_006457;Q9H1D9 Hs.472227 1712214;2217794;5112337 G54014;POLR3F_3526;RH103591 MGC13517;RPC39;RPC6 DNA-directed RNA polymerase III 39 kDa polypeptide;DNA-directed RNA polymerase III subunit F;DNA-directed RNA polymerase III subunit RPC6;DNA-directed RNA polymerases III 39 kDa polypeptide;OTTHUMP00000030359;RNA polymerase III 39 kDa subunit;RNA polymerase III C39 subunit;RNA polymerase III subunit C6 APPROVED protein-coding ENSG00000132664 HGNC:15763 15156 REVIEWED 1323060 POLR3C polymerase (RNA) III (DNA directed) polypeptide C (62kD) ENCODES a protein that exhibits DNA binding (inferred); DNA-directed RNA polymerase activity (inferred); INVOLVED IN positive regulation of innate immune response; positive regulation of interferon-beta production; PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; FOUND IN DNA-directed RNA polymerase III complex; nucleus; INTERACTS WITH atrazine; cyclosporin A; methyl methanesulfonate 1 1 1 q21.1 119795949 119814224 - 145592605 145610972 - 145824141 145842505 + 1580863;6480464;6907045 10373544;10523658;12384934;12391170;12477932;1403646;15489334;17643375;18029348;19609254;20970119;21139048;21358628;21832049;21890473;21906983;22939629;23000965;23383273;24816145;8125298;9171375 10623 E9PHH9;Q9BUI4 ABBA01005741;AC239808;AJ238221;AJ238234;AK223413;AL160282;AY091463;BC002586;BC004424;CH471244;NM_006468;U93867;XM_005272927;XM_005272928;XM_005277333 AAB63675;AAH02586;AAH04424;AAM12033;ADZ15329;BAD97133;CAB41919;EAW71434;EAW71435;EAW71436;NP_006459;Q9BUI4;XP_005272984;XP_005272985;XP_005277390 Hs.591457 1847462 RH64684 RPC3;RPC62 DNA-directed III 62 kDa polypeptide;DNA-directed RNA polymerase III subunit C;DNA-directed RNA polymerase III subunit RPC3;OTTHUMP00000015591;OTTHUMP00000015592;RNA polymerase III 62 kDa subunit;RNA polymerase III subunit C3 protein-coding ENSG00000186141 HGNC:30076 17880 PROVISIONAL 8661373 POLR3GP1 polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 1 14 14 14 72117736 72118403 - 92069110 92069777 - 91602766 91603433 - 100422395 ABBA01030474;AL133373;AMYH02029748;NG_027301 pseudo HGNC:23345 INFERRED 1353647 POLR3GL polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like INVOLVED IN gene expression (inferred); innate immune response (inferred); positive regulation of type I interferon production (inferred); PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; FOUND IN DNA-directed RNA polymerase III complex; nuclear chromatin; INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; copper(2+) sulfate 1 1 1 q21.1 119659588 119673739 - 145456236 145476081 - 145959014 145978848 + 737633;6480464;6907045 12477932 14702039;20154270;21906983 84265 A6NGX6;Q9BT43 ABBA01005744;ABBA01005745;AC243547;AK056984;AK092209;AL160282;BC004355;BC050418;CH471244;CS185581;DQ418461;NM_032305;XM_005277431 AAH04355;ABD76394;BAB71332;CAJ42762;EAW71412;EAW71413;EAW71414;NP_115681;Q9BT43;XP_005277488 Hs.591456 2134768;2161689 A003P17;D1S3345 FLJ34890;MGC3200;RPC32HOM;flj32422 DNA-directed RNA polymerase III subunit G-like;DNA-directed RNA polymerase III subunit RPC7-like;OTTHUMP00000015576;OTTHUMP00000039228;RNA polymerase III subunit C7-like;RPC32-like protein;alternative RNA polymerase III subunit 32 protein-coding ENSG00000121851 HGNC:28466 14546 PROVISIONAL 1351863 POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011] 10 10 10 q22-q23 73021499 73075893 - 79734907 79789298 - 77975149 78029540 - 1580863;6480464;6907045;8699517;7240710;8554872 11416169;12384934;12391170;12477932;1403646;16055720;16344560;17283126;17643375;18029348;18187620;19176527;19609254;19615732;19913121;19946888;20211142;20379614;20628086;21139048;21855841;21890473;21906983;22036171;22189167;22505724;22855961;22939629;23355746;24337577;24501781;24816145;25027693;9331371 11128 O14802;Q7Z755;R4GMX2 ABBA01020225;ABBA01020226;AF021351;AK024744;AK026023;AK300329;AL512628;AMYH02023386;AMYH02023387;AMYH02023388;AY091459;AY091460;AY091461;AY091462;BC014399;BC041089;CA449326;CH471083;DA103416;DA353439;NG_029648;NM_007055;XM_006717597 AAB86536;AAH14399;AAH41089;AAM12029;AAM12030;AAM12031;AAM12032;BAH13260;EAW54617;NP_008986;O14802;XP_006717660 Hs.436896 1643676;1714747;1754597;1857239;2163880;2217922 RH120039;RPC155_3541;SHGC-132894;SHGC-5548;STS-AA033874;STS-T70096 ADDH;HLD7;RPC1;RPC155;hRPC155 DNA-directed RNA polymerase III largest subunit;DNA-directed RNA polymerase III subunit A;DNA-directed RNA polymerase III subunit RPC1;OTTHUMP00000019920;RNA polymerase III 155 kDa subunit;RNA polymerase III subunit C1;RNA polymerase III subunit C160;RNA polymerase III subunit RPC155-D APPROVED protein-coding ENSG00000148606 HGNC:30074 17879 607694;614258 REVIEWED 8661462 POLR3GP2 polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 2 18 18 18 42854254 42854918 + 46004932 46005596 + 48478561 48479225 + 19913121;20379614;20628086 100422391 ABBA01018636;AC024288;AMYH02034681;NG_026328 pseudo HGNC:50691 INFERRED 5128992 POLR3KP1 polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 1 13 13 13 q21.2 40603759 40604495 - 59645238 59645974 - 59071104 59071840 - 100289667 ABBA01037003;AL512442;AMYH02028123;NG_023354 pseudo HGNC:39577 INFERRED 731440 POLR2M polymerase (RNA) II (DNA directed) polypeptide M This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013] 15 15 15 q21.3 34888598 34899440 + 57998901 58009753 + 57706521 57717557 + 6480464 10359081;10931842;11076863;11256614;11474202;12089333;12379213;12477932;12634356;12642036;12775419;14702039;15175163;15233991;15489334;15489336;16055720;16112646;16169070;16189514;16381901;16572171;16769904;17317662;17361039;18669648;20412299;22229121;22231121;22244331;22244332;22422068;22567366;22850672;22990118;23028129;23087374;23274668;24596085;24634214;24816145;8125298;8800208;9874563 81488 E9PP13;P0CAP1;P0CAP2;Q6EEV4 ABBA01038988;ABBA01038989;AC090651;AF086209;AF326773;AK074767;AK074955;AK128618;AK223571;AK308873;AL050091;AMYH02030521;AMYH02030522;AY339380;AY341344;AY353061;BC001510;BF939412;BI833260;BQ072611;CH471082;CQ783776;NG_029676;NM_001018102;NM_015532 AAH01510;AAK92284;AAQ76830;AAQ76837;AAQ82540;ABM83961;ABM87275;BAC11193;BAC11313;BAC87533;BAD97291;CAB43263;CAF86856;CAL37599;EAW77525;EAW77527;NP_001018112;NP_056347;P0CAP2;Q6EEV4 Hs.437256;Hs.702937 1675343;1677336;1681364;1687209;1687568;1768898;1858140;2146353 D4S3096;RH28685;RH39519;RH39550;RH76145;SHGC-67777;WI-13387;WI-20619 DKFZp586F1918;GCOM1;GRINL1A;Gdown;Gdown1 DNA-directed RNA polymerase II subunit M;DNA-directed RNA polymerase II subunit M, isoforms 4/5;GRINL1A downstream protein Gdown4;Glutamate receptor-like protein 1A;OTTHUMP00000163345;OTTHUMP00000163421;glutamate receptor, ionotropic;glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A;protein GRINL1A, isoforms 4/5 APPROVED protein-coding ENSG00000255529 HGNC:14862 07575 606485 REVIEWED 1348674 POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD) ENCODES a protein that exhibits DNA-directed RNA polymerase activity (inferred); INVOLVED IN cell proliferation; positive regulation of innate immune response; positive regulation of interferon-beta production; PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; FOUND IN DNA-directed RNA polymerase III complex; nuclear chromatin; INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 5 5 5 q14.3 85672528 85712495 + 89769876 89810474 + 90474864 90514657 + 1580863;6480464;6907045 12391170;1403646;15342556;16341674;17643375;19609254;19631370;21810746;21898682;21906983;22939629;9171375 10622 D6R921;D6R9U7;D6REQ0;D6RIT0;D6RJH6;O15318 ABBA01062154;ABBA01062155;AC027323;AC093510;AK025490;AK295434;AMYH02011773;AMYH02011774;BM788728;BP348952;CD657312;CH471084;NM_006467;U93868;XM_005248404;XM_006714519;XM_006714520 AAB63676;AAI40283;AAI41650;BAG58376;EAW95980;EAW95981;EAW95982;NP_006458;O15318;XP_005248461;XP_006714582;XP_006714583 Hs.282387 1336723;1679177;1722999 D5S2044;G60599;RH99035 RPC32;RPC7 DNA-directed RNA polymerase III 32 kDa polypeptide;DNA-directed RNA polymerase III subunit G;DNA-directed RNA polymerase III subunit RPC7;OTTHUMP00000222694;OTTHUMP00000222697;RNA polymerase III 32 kDa subunit;RNA polymerase III subunit C7 protein-coding ENSG00000113356 HGNC:30075 17881 VALIDATED 5129011 POLR3KP2 polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 2 17 17 17 q25.1 67741982 67742596 - 71158909 71159523 - 73162770 73163384 - 390811 ABBA01028872;AC097641;AMYH02033957;CH471099;NG_023353;NG_029371 EAW89110 pseudo HGNC:39578 VALIDATED 1312131 POLRMT polymerase (RNA) mitochondrial (DNA directed) This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 184054 200399 + 617223 633665 - 617223 633665 - 1580863;6480464 12068295;12477932;12897151;15057824;15258572;15526033;16079853;17337445;18029348;18063578;19237606;19624753;20020773;20129056;20186120;20562859;20877624;21145461;21548588;21799907;21890473;21907836;21947009;22586326;23303773;24096365;24163370;24250222;24393772;24413562;24816145;8125298;9097968 5442 K7EMH3;K7ESD1;O00411;Q4G0F4;R4GN79 AB209920;ABBA01002580;AC004449;AK225723;AK225865;AK302877;AK307525;AMYH02035116;AMYH02035117;BC024170;BC030829;BC070057;BC098387;CH471242;NG_023049;NM_005035;U75370;XM_005259580 AAB58255;AAC06147;AAH98387;BAD93157;BAG64057;EAW61177;EAW61178;NP_005026;O00411;XP_005259637 Hs.254113 5106927 RH47235 MTRNAP;MTRPOL;h-mtRPOL APOLMT;DNA-directed RNA polymerase, mitochondrial APPROVED protein-coding ENSG00000099821 HGNC:9200 03468 601778 REVIEWED 1314191 POLR3H polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) ENCODES a protein that exhibits DNA-directed RNA polymerase activity; INVOLVED IN nucleobase-containing compound metabolic process; transcription from RNA polymerase III promoter; PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; DNA-directed RNA polymerase III complex; intracellular membrane-bounded organelle; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; ethyl methanesulfonate 22 22 22 q13.2 25728174 25746850 - 41921803 41940479 - 41525799 41544606 - 1580863;6480464;6907045;8554872 10591208;11258795;12391170;12477932;1403646;15461802;15489334;16344560;16712791;17643375;18029348;19246067;19615732;20843307;21963094;22939629;24250222;8889548 171568 E7ERZ2;F8WDS5;F8WDV1;Q6ZPA8;Q9Y535 AB051452;ABBA01055642;ABBA01055643;AK000365;AK026524;AK129663;AL023553;AMYH02038441;AY092087;BC017248;BC088367;BI754673;BM681267;BM701572;BU173504;BU584298;BU928882;BX331353;BX367405;CB126821;CH471095;CR456459;DA238361;DA449644;DA504810;NM_001018050;NM_001018052;NM_001282884;NM_001282885;NM_138338;XM_006724164;XR_244356 AAH17248;AAH88367;AAM18217;ACT64405;ACT64406;BAB33335;BAC85211;CAG30345;CAK54440;CAK54739;EAW60437;EAW60438;EAW60439;EAW60440;EAW60441;NP_001018060;NP_001018062;NP_001269813;NP_001269814;NP_612211;Q9Y535;XP_006724227 Hs.712617 1648242;1690041;1733262;1770293;2122822;2191721;5091958 A007B26;D22S1253;D22S643;D22S998E;MARC_5597-5598:1044046898:1;RH11189;RH78562 KIAA1665;MGC111097;MGC29654;RPC22.9;RPC8 DNA-directed RNA polymerase III subunit 22.9 kDa polypeptide;DNA-directed RNA polymerase III subunit H;DNA-directed RNA polymerase III subunit RPC8;OTTHUMP00000198835;OTTHUMP00000198837;OTTHUMP00000198839;RNA nucleotidyltransferase (DNA-directed);RNA polymerase III subunit 22.9 kDa subunit;RNA polymerase III subunit C8;RNA polymerase III subunit RPC8 protein-coding ENSG00000100413 HGNC:30349 15157 VALIDATED 2290514 POM121B POM121 transmembrane nucleoporin B (pseudogene) INVOLVED IN mRNA transport (inferred); protein transport (inferred); FOUND IN nuclear pore (inferred) 7 7 q11.23 72707495 72717232 + 73293495 73303235 + 12853948;17900573;19413330;9847074 100288540 A6NF01 ABBA01063963;ABBA01063964;ABBA01063965;ABBA01063966;AC073841;AC211485;NG_013116 A6NF01 2108873;2115167 POM121_9011;SHGC-56093 APPROVED pseudo HGNC:34004 INFERRED 2306344 POLRMTP1 polymerase (RNA) mitochondrial (DNA directed) pseudogene 1 17 17 17 q23.2 59315356 59319072 - 60214284 60218000 - 62136923 62140639 - 284167 ABBA01035367;AC008158;AC053481;AC124802;AMYH02033759;AY672105;NG_011773 Hs.512026 1728511 G63693 POLRMTL APPROVED pseudo HGNC:28865 INFERRED 2303890 POM121L10P POM121 transmembrane nucleoporin-like 10, pseudogene INTERACTS WITH (+)-catechin 22 22 22 q11.23 8447981 8482142 + 25041133 25055114 - 24645166 24659147 - 16751776;9074928 646074 AMYH02038146;AP000356;BX648116;DQ571048;NR_024593 Hs.531306 1784514;5113408 RH92295;SHGC-170333 DKFZp686I1532 APPROVED pseudo HGNC:35448 VALIDATED 2303438 POM121L11P POM121 transmembrane nucleoporin-like 11, pseudogene 22 22 22 q11.23 7470317 7471658 - 23652037 23664174 - 23309850 23321987 - 100129643 ABBA01055106;AMYH02038124;AP000343;NG_032575;U07000 APPROVED pseudo HGNC:35447 INFERRED 1350025 POLR3K polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010] 16 16 16 p13.3 298898 305526 - 96979 103632 - 46979 53632 - 1580863;6480464;6907045;8554872 10079944;11157797;12391170;12477932;1403646;15489334;15616553;16728641;17499043;18029348;23446634;24250222;9054936;9869639 51728 Q9Y2Y1 ABBA01030394;ABBA01030395;AE006462;AF051316;AF060223;AF126531;AMYH02031177;BC011932;CH471112;DQ431198;DR978472;KF456133;NM_016310;Z69719 AAD31424;AAF18268;AAG43123;AAH11932;AAK61210;ABD95903;ABM87280;ABW03869;CAI95605;EAW85879;NP_057394;Q9Y2Y1 Hs.632223 1721991;1810120;1827318;1835944;1842796;1843920;1845784;2046694;2046696;2046698;2046700;2046702;2046704;2046706;2046708;2046710;2046712;2046714;2046716;2046718;2046720;2046722;2046724;2046726;2046728;2046730;2046732;2046734;2046736;2046738;2046740;2046742;2046744;2046746;2046748;2046750;2046752;2046754;2104330;2104332;2104334;2104336;5113288 ECD06052;ECD14774;ECD19133;ECD22605;ECD23171;ECD24111;G59881;REN94476;REN94477;REN94478;REN94479;REN94480;REN94481;REN94482;REN94483;REN94484;REN94485;REN94486;REN94487;REN94488;REN94489;REN94490;REN94491;REN94492;REN94493;REN94494;REN94495;REN94496;REN94497;REN94498;REN94499;REN94500;REN94501;REN94502;REN94503;REN94504;REN94505;REN94506;RH65374;stSG608825;stSG608826;stSG608828;stSG608830 C11;C11-RNP3;My010;RPC10;RPC11;RPC12.5;hRPC11;hsC11p DNA-directed RNA polymerase III subunit K;DNA-directed RNA polymerase III subunit RPC10;DNA-directed RNA polymerases III 12.5 kDa polypeptide;OTTHUMP00000067145;RNA polymerase III 12.5 kDa subunit;RNA polymerase III subunit (hRPC11);RNA polymerase III subunit C10;RNA polymerase III subunit C11;RNA polymerase III subunit CII APPROVED protein-coding HGNC:14121 16187 606007 REVIEWED 6480971 POM121L13P POM121 transmembrane nucleoporin-like 13, pseudogene 13 13 29352695 29353074 + 28778558 28778937 + 100874379 ABBA01035723;AL359741;AMYH02027772;NG_032518 pseudo HGNC:42635 INFERRED 1601803 POM121L12 POM121 transmembrane nucleoporin-like 12 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine 7 7 7 p12.1 53164061 53165330 + 53103349 53104618 + 53035656 53036925 + 8554872 14702039 285877 Q8N7R1 ABBA01011826;AC074397;AL833888;AMYH02015718;BI826445;BX104052;NM_182595 CAD38744;NP_872401;Q8N7R1 Hs.381970 OTTHUMP00000209038;POM121 membrane glycoprotein-like 12;POM121-like protein 12 APPROVED protein-coding ENSG00000221900 HGNC:25369 13212 VALIDATED 6904127 POM121L14P POM121 transmembrane nucleoporin-like 14, pseudogene 6 p11.2 58259807 58271194 + 727805 ABBA01016209;AL021368;AMYH01016375 pseudo HGNC:44414 MODEL 1347281 POM121L1P POM121 transmembrane nucleoporin-like 1, pseudogene This locus appears to be a pseudogene related to DKFZp434K191, which is of unknown function. This pseudogene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008] 22 22 22 q11.22 8447909 8460882 + 22974028 22987012 - 22631557 22644541 - 6480464 12477932;9074928;9391893 25812 Q3SYA9;Q5NV77 ABBA01055090;ABBA01055091;ABBA01055092;ABBA01055093;AC244250;AK292412;D87002;NG_000002;NR_024591 BAA19999;BAA20000;BAF85101 Hs.367764 5111411 RH77813 FLJ76724;POM121L1 APPROVED pseudo HGNC:16439 PROVISIONAL 1343533 POM121L2 POM121 transmembrane nucleoporin-like 2 INTERACTS WITH cadmium atom 6 6 6 p22.1 28882843 28886012 - 27276842 27280011 - 27309063 27312232 - 6480464 19571809;23894747 94026 H7C418;Q96KW2 ABBA01037992;AL021808;AMYH02013381;NM_033482 NP_258443;Q96KW2 Hs.729955 1778654;2167295 D6S2335;D6S2336 POM121-L;POM121L OM121 membrane glycoprotein (rat homolog)-like 2;OTTHUMP00000016178;POM121 membrane glycoprotein (rat homolog)-like 2;POM121 membrane glycoprotein-like 2;POM121-like protein 2 APPROVED protein-coding ENSG00000158553 HGNC:13973 VALIDATED 1605101 POM121 POM121 transmembrane nucleoporin This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013] 7 7 7 q11.23 68193320 68195518 + 72349906 72421979 + 72879335 72951440 + 6480464;8554872 10546895;11448991;11707516;12228227;12477932;12853948;14702039;15304359;15657394;16169070;16189514;16702234;16713569;17081983;17577209;17900573;18596237;18824568;19531213;19620630;19782045;20624389;20936779;20974814;21139048;21289085;21727197;21890473;21906983;21963094;22412018;22589738;24250222;7789967;8335683;9621063;9734811;9847074 9883 Q96HA1 AB014518;AB289621;ABBA01005868;ABBA01005869;ABBA01005870;ABBA01186092;AC005488;AC211469;AC211476;AK001215;AK022555;AK123814;AK292548;AL080109;AL713666;BC001518;BC008794;BE408761;BG831530;BI544820;BM994161;CD370328;CH471200;DC361358;NM_001257190;NM_172020;XM_005250726;XM_005250727;XM_005250728;XM_005250729;XM_005250730;XM_005250731;XM_005250732;XM_006716194;XM_006716195;XM_006716196 AAH01518;AAH08794;BAA31593;BAB14097;BAF80887;BAF85237;CAB45713;CAD28472;EAW69698;NP_001244119;NP_742017;Q96HA1;XP_005250783;XP_005250784;XP_005250785;XP_005250786;XP_005250787;XP_005250788;XP_005250789;XP_006716257;XP_006716258;XP_006716259 Hs.655217;Hs.737064 1665971;1754003;1790419;1790435;1790439;1855131;2108873;2115167;2149238;2155276;2187323;5019194;5020291;5091301;5096546;5115286;5122027;5125662;5125968;5126315;5126783;5127148;5127388;5493011;7184965 D7S2868;D7S3278;D7S3290;D7S3293;D7S3294;D7S534E;D7S789;GDB:1318609;GDB:1318657;GDB:4584988;GDB:4584996;GDB:4585009;GDB:4585127;GDB:4585193;GDB:4585440;POM121_9011;RH104432;RH10987;RH45339;SHGC-132050;SHGC-56093;STS-W72988;UniSTS:483688;WI-20883 DKFZp586G1822;DKFZp586P2220;FLJ41820;KIAA0618;MGC3792;P145;POM121A OTTHUMP00000160223;OTTHUMP00000160224;OTTHUMP00000211425;POM121 membrane glycoprotein;nuclear envelope pore membrane protein POM 121;nuclear envelope pore membrane protein POM 121A;nuclear pore membrane protein 121 kDa;nucleoporin Nup121;pore membrane protein of 121 kDa APPROVED protein-coding ENSG00000196313 HGNC:19702 11448 615753 REVIEWED 1344633 POM121L6P POM121 transmembrane nucleoporin-like 6 pseudogene 6 6 p21.3 26838446 26865940 + 26870667 26898161 + 729392 AL133255;AMYH02013374;NG_008948 bA239L20.2 APPROVED pseudo HGNC:31343 INFERRED 1353023 POM121L3P POM121 transmembrane nucleoporin-like 3, pseudogene 20 20 20 p11.21 24044596 24045751 + 23969929 23971084 + 23989292 23990447 + 651452 ABBA01048738;AL133466;AMYH02036839;NG_008187 1705210;2131262 SHGC-78074;Z94603 POM121L3;dJ831C21.3 APPROVED pseudo HGNC:16440 INFERRED 1352964 POM121L4P POM121 transmembrane nucleoporin-like 4 pseudogene 22 22 22 q11.2 10406 11951 - 21043843 21046009 + 20689555 20691721 + 12477932;15489334 266697 AC007050;AMYH02038078;BC103891;NR_024592 Q3SYA9 Hs.558711 MGC119266 APPROVED pseudo HGNC:19326 PROVISIONAL 2308874 POM121L7 POM121 transmembrane nucleoporin-like 7 22 22 22 q11.21 8447909 8462182 + 21467077 21482381 - 21112788 21128092 - 6480464 728418 B5MDG6 AMYH02038086;AP000550;NG_009026 APPROVED pseudo HGNC:35444 INFERRED 2290521 POM121C POM121 transmembrane nucleoporin C INVOLVED IN mRNA transport (inferred); protein transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); nuclear pore (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 7 7 7 q11.2 67966286 67982273 - 75046060 75115565 - 75416781 75486288 - 6480464;8554872 10737800;11779826;12073013;12477932;14702039;17577209;17900573;20936779;21139048;21890473;21906983;21963094;21988832;23251661;9847074 100101267 A8CG34;A8MY32;B4DDR5;B4DET5;C9JFL1 AB354586;ABBA01000790;ABBA01000791;AC006014;AC018720;AC211429;AI039602;AK125865;AK127026;AK293305;AK293781;AK311407;AL050158;BC013954;BC082993;BC130587;BC130589;BF370438;BU189720;BX649044;HY087675;NM_001099415;XM_005250082 A8CG34;AAI30588;AAI30590;BAF80888;BAG56826;BAG57196;NP_001092885;XP_005250139 Hs.712563 1665971;1754003;1790429;1790435;1790439;1855131;2108873;2115167;2115628;5017433;5020291;5022266;5091301;5096546;5115286;5122027;5125662;5125968;7184965 D7S2308;D7S2868;D7S3287;D7S3290;D7S3293;D7S3294;D7S534E;D7S789;GDB:4584988;GDB:4585009;GDB:4585127;GDB:4585261;POM121_9011;SHGC-132050;SHGC-56093;STS-T76997;STS-W72988;WI-20883 DKFZp586P2220;DKFZp779K1713;FLJ43877;FLJ45082;MGC163459;MGC163461;POM121-2 OTTHUMP00000209654;OTTHUMP00000209765;POM121 membrane glycoprotein C;POM121 membrane glycoprotein-like;nuclear envelope pore membrane protein POM 121C;nuclear pore membrane protein 121-2;pore membrane protein of 121 kDa C APPROVED protein-coding ENSG00000272391 HGNC:34005 615754 VALIDATED 2291787 POM121L8P POM121 transmembrane nucleoporin-like 8 pseudogene INTERACTS WITH 17beta-estradiol; atrazine; silicon dioxide 20 22 22 q11.2 24044019 24051295 + 21636714 21652019 + 21282425 21297730 + 6480464 11230166;12477932;15252450;16751776;17974005 29797 Q5BKY6 ABBA01012519;AC008103;AC008132;AK292222;AK302597;AK302811;AK308294;AK308336;AL117485;AMYH02038087;AP000552;BC034793;BC050331;BC050342;BC051721;BC068032;BC090873;DQ579582;DQ585143;DQ786190;NR_024583 ACE86860;ACE87548;BAF84911;BAG63849;BAG64011;Q5BKY6 Hs.396963;Hs.645245;Hs.735161;Hs.745076 5015718;5020740;5106704;5111411;5113408;5113551;5117214;5124065 D5S2247E;GDB:451800;L17809;RH66855;RH77813;RH80432;RH92295;RH98694 DKFZp434K191;FLJ60978;FLJ61495;FLJ76361;FLJ98242;FLJ98284 APPROVED pseudo HGNC:35446 18779 PROVISIONAL 1606199 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012] 3 3 3 p22.1 43058234 43085072 - 43120721 43147575 - 43079229 43106083 - 6480464;8699517;7240710;8554872 12477932;14702039;15489334;20301468;21832049;22268729;22958903;24041696;24250222 84892 Q8NAT1 ABBA01024760;AC092042;AK027472;AK092147;AK124737;AMYH02006632;AX084215;BC004508;BC021220;BC060861;CH471055;NG_032930;NM_032806;XM_005265515;XM_006713361 AAH60861;ADZ15625;BAB55137;BAC03816;BAG54085;CAC33413;EAW64690;EAW64691;EAW64692;NP_116195;Q8NAT1;XP_005265572;XP_006713424 Hs.745002 1652889;1710560;1721713;1764459 G59721;SHGC-148060;SHGC-82380;WI-14339 AGO61;C3orf39;FLJ14566;GTDC2;MDDGA8 OTTHUMP00000164032;OTTHUMP00000209937;extracellular O-linked N-acetylglucosamine transferase-like;glycosyltransferase;glycosyltransferase-like domain containing 2;glycosyltransferase-like domain-containing protein 2;protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2;uncharacterized glycosyltransferase AGO61 APPROVED protein-coding ENSG00000144647 HGNC:25902 07863 614828;614830 VALIDATED 1314101 POMP proteasome maturation protein The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010] 13 13 13 q12.3 10309014 10328866 + 29233141 29253094 + 28659004 28678957 + 6480464;6907045;7240710;8699517;8554872 10891394;10926487;10973495;11042152;12060596;12477932;14733938;15057823;15489334;15944226;16251969;16624403;16751776;17189198;17506986;17948026;18029348;18624398;20226437;20379614;20980621;21139048;21145461;21890473;21906983;21963094;22235297;22505724;22939629;22990118;23000965;24080446;24811749 51371 Q9Y244 ABBA01035724;AF077200;AF125097;AF262975;AF275807;AK312118;AL359454;AMYH02027770;BC003390;BC014334;CD369437;CH471075;EF535527;GU045555;GU045556;NG_027550;NM_015932 AAD26995;AAD39914;AAG23819;AAH03390;AAH14334;AAK58521;ABM85055;ABQ08566;ADE92939;ADE92940;BAG35054;EAX08434;EAX08435;NP_057016;Q9Y244 Hs.268742 1670492;1688404;1772260;2111564;2162631;2170298;2186850 D13S1522;RH44823;RH45726;RH79841;SHGC-32045;SHGC-64040;STS-R67915 C13orf12;HSPC014;PNAS-110;UMP1;hUMP1 2510048O06Rik;OTTHUMP00000018185;chromosome 13 open reading frame 12;proteassemblin;protein UMP1 homolog;voltage-gated K channel beta subunit 4.1;voltage-gated potassium channel beta subunit 4.1 APPROVED protein-coding ENSG00000132963 HGNC:20330 12613 601952;613386 REVIEWED 1601871 POM121L9P POM121 transmembrane nucleoporin-like 9, pseudogene This locus is inferred to be a transcribed pseudogene based on the observation that protein homology is limited to the first of seven exons (indicated by alignment of AL117401.1 to the assembled human genome). This pattern suggests rapid turnover by the nonsense-mediated decay pathway. [provided by RefSeq, Jul 2008] 22 22 22 q11.22 8447981 8461883 + 24647589 24661492 + 24251621 24265524 + 6480464 11076863;11230166;12477932;12975309;15489336;16344560;16381901;16751776 29774 AL040062;AL045566;AL117401;AL117484;AMYH02038141;AP000354;AY358961;BC063879;BC086868;BX107726;CH471095;DB072014;DQ596042;NR_003714 AAQ89320;CAB55902;CAL37766;CAL37978;EAW59653;EAW59654;EAW59655 Hs.534980 5022578;5111411;5113408 D1S1423;RH77813;RH92295 DKFZP434P211;UNQ2565 APPROVED pseudo ENSG00000128262 HGNC:30080 16807 VALIDATED 1602085 POMK protein-O-mannose kinase This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 8 8 8 p11.21 41897360 41927029 + 42948649 42978323 + 43093506 43123180 + 6480464;8699517;7240710;8554872 10737800;12471243;12477932;14702039;15489334;15761153;16344560;16879967;21746835;23519211;23929950 84197 E5RJD5;Q9H5K3 ABBA01021184;ABBA01021185;AC113191;AMYH02017915;BC101548;BC113703;BQ365114;CH471080;DA074115;DA330953;DA383787;DA818523;EH337134;NG_033235;NM_001277971;NM_032237 AAI01549;AAI13704;EAW63187;NP_001264900;NP_115613;Q9H5K3 Hs.491646 1683721 RH92724 FLJ23356;MDDGA12;MGC126597;SGK196 OTTHUMP00000225904;OTTHUMP00000225905;Sugen kinase 196;probable inactive protein kinase-like protein SgK196;protein O-mannose kinase;protein kinase-like protein SgK196 APPROVED protein-coding ENSG00000185900 HGNC:26267 08668 615247;615249 REVIEWED 1352097 POMC proopiomelanocortin This gene encodes a polypeptide hormone precursor that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the polypeptide precursor and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 25224014 25231854 - 25383722 25391559 - 25160853 25168690 - 1601429;1580863;1357926;1601430;1357925;5508806;5508803;5508804;5508805;5508808;5508809;5508807;6480464;6484113;7240710;8554872;8699517 11874690;15189116;15472174;15812563;21378032;21378282;21380811;21428190;21741932;2550304;9145424 10193875;10233018;10942578;11041375;11101306;11151766;11244459;11278902;11606131;11936276;11979399;12032760;12036966;12039064;12068494;12165561;12213892;12220743;12475731;12477932;12485424;12566947;12590613;12591959;1264228;12643442;12697721;12787137;12887283;12914931;12944398;14463577;14532850;14576363;14645373;14729605;15004414;15009732;15099286;15100697;15102092;15226502;15251468;15340161;15358786;15464199;15480745;15489334;15498881;15546902;15560758;15585384;15597110;15666826;15666849;15798195;15835810;15862552;15864412;15949633;15951321;16046320;16046867;16081629;16091310;16136011;16136012;16177130;16222047;16289330;16459314;16459315;1656407;16610949;16675966;16682835;16740999;16752831;16807684;16876134;16876316;16892066;16946714;16984256;17043312;17079660;17108680;17122358;17235324;17317724;17347308;17351784;17363457;17487313;17503481;17525122;17545153;17604950;17687619;17696832;17719137;18057378;18091355;18234565;18240029;18292087;18294637;18378043;18388149;18391951;18398047;18510797;18551113;18589403;18600473;18636124;18697863;18753988;18818748;18974267;18992263;18996102;19019335;19049975;19058789;19077144;19077438;19086053;19119631;19167016;19170705;19217079;19282378;19297547;19337797;19363600;19384953;19426838;19452503;19453261;19491387;19527514;19560499;19561113;195688;19574343;19723618;19743876;19747414;19770186;19790046;19797501;19835629;19874574;19913121;20097762;20170714;20176366;20191296;20200332;20403506;20424473;20468064;20482620;20602615;20610647;20628086;20634197;20639461;20734064;20810565;20935630;21037584;21193556;21277631;21332028;21367968;21521257;21536413;21622576;21723177;21832049;21980299;22078238;22112433;22328135;22398003;22403619;22492775;22544740;22612534;22643178;22792774;22842514;22933782;23028917;23038967;23118421;23218956;23224873;23314782;23402298;23426689;23449627;23468531;23563607;23669352;23739976;23810011;23831408;23933687;2424570;24354022;2475499;2558057;2839146;3606677;4334191;4338630;4347148;4352834;4368999;6196780;6254047;6267033;6272808;6274691;6280146;6299668;6314261;6546764;6945581;7477400;7726641;7828531;7905839;8185570;8208289;9058374;9186529;9620771;9768693;9851780 5443 E9PHK5;P01189;Q6FHC8 ABBA01045137;AC012457;AI341269;AMYH02003433;AW951218;BC065832;BT019918;CB988233;CH471053;CR541826;DQ884404;J00291;J00292;M25896;M28636;M38297;NG_008997;NM_000939;NM_001035256;S76492;V01510 AAA35799;AAA60139;AAA60140;AAB59621;AAC60644;AAH65832;AAV38721;AAY24354;ABI63371;CAA24754;CAG46625;EAX00729;EAX00730;NP_000930;NP_001030333;P01189 Hs.1897 1685349;1741503;1794052;1794054;1794464;2191739 GDB:181256;MARC_6319-6320:997299547:3;PMC310777P14;PMC310777P15;PMC314306P6;RH79890 ACTH;CLIP;LPH;MSH;NPP;POC OTTHUMP00000119991;OTTHUMP00000200964;OTTHUMP00000200965;OTTHUMP00000200966;adrenocorticotropic hormone;adrenocorticotropin;alpha-MSH;alpha-melanocyte-stimulating hormone;beta-LPH;beta-MSH;beta-endorphin;beta-melanocyte-stimulating hormone;corticotropin-like intermediary peptide;corticotropin-lipotropin;gamma-LPH;gamma-MSH;lipotropin beta;lipotropin gamma;melanotropin alpha;melanotropin beta;melanotropin gamma;met-enkephalin;opiomelanocortin prepropeptide;pro-ACTH-endorphin;pro-opiomelanocortin;proopiomelanocortin preproprotein 1643262;1643271;2289166;2289172;2289226;2289642;2289647;2289649 BW207_H;BW214_H;BW507_H;BW508_H;INSUL1_H;SLEP5_H;SLEP6_H;SLEP8_H APPROVED protein-coding ENSG00000115138 HGNC:9201 01462 176830;601665;609734 REVIEWED 1348575 POMT1 protein-O-mannosyltransferase 1 The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008] 9 9 9 q34.1 104918461 104939373 + 134378282 134399193 + 131502895 131523806 + 731235;1580863;6480464;6907045;7240710;8554872;8699517 12369018 10366449;12477932;12757935;12925572;14699049;14702039;15037715;15489334;15522202;15637732;15792865;16303743;16344560;16698797;16887026;17079174;17869517;17878207;18513969;18647264;19299310;19519795;19639522;19880378;20301468;20301552;20301582;20634891;20816175;21782786;21906983;22505724;22549409;24250222 10585 B4DI80;B4DTW4;Q5JSZ6;Q5JT02;Q5JT03;Q5JT04;Q5JT05;Q5JT07;Q9Y6A1 AB209430;ABBA01012098;AF095136;AF095150;AK000475;AK074874;AK074888;AK094558;AK293529;AK295458;AK295561;AK299646;AK300393;AK300511;AK301486;AK303254;AK307876;AK315218;AL358781;AMYH02021794;BC022877;BC065268;BF984005;CH471090;CQ783718;DB154785;NG_008896;NM_001077365;NM_001077366;NM_001136113;NM_001136114;NM_007171;XM_005272156;XM_005272158;XM_005272159;XM_005272162;XM_006716932 AAD41245;AAD41246;AAH22877;AAH65268;BAA91190;BAC11269;BAD92667;BAG52022;BAG57011;BAG58392;BAG58462;BAG61567;BAG62126;BAG62223;BAG63000;BAG64337;CAF86827;EAW87974;EAW87975;EAW87976;EAW87977;EAW87978;NP_001070833;NP_001070834;NP_001129585;NP_001129586;NP_009102;Q9Y6A1;XP_005272213;XP_005272215;XP_005272216;XP_005272219;XP_006716995 Hs.522449 1707050;1753987;2120293;2143276;2145061;2175833;2175989;2187188;5022322 A004H35;A004N19;D11S2560;D9S1959;D9S2067;D9S64;NIB247;SHGC-132019;SHGC-81277 FLJ37239;LGMD2K;MDDGA1;MDDGB1;MDDGC1;RT OTTHUMP00000022405;OTTHUMP00000022406;OTTHUMP00000022407;dolichyl-phosphate-mannose--protein mannosyltransferase 1;dolichyl-phosphate-mannose-protein mannosyltransferase;protein O-mannosyl-transferase 1 APPROVED protein-coding ENSG00000130714 HGNC:9202 06305 236670;607423;609308;613155 REVIEWED 1350881 POMZP3 POM121 and ZP3 fusion This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from the ZP3 gene. The 5' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 69694934 69696828 - 76239303 76256620 - 76609986 76627303 - 6480464 11329013;12477932;16702234;21832049;21906983;21963094;22990118;7789967 22932 A56844;C9J370;C9JER0;H7C4D5;Q6PJE2 AC004980;AMYH02016094;BC000487;BC017101;BG461659;BI084456;NM_012230;NM_152992;U10099 A56844;AAA85788;AAI48539;AAI53131;NP_036362;NP_694537;Q6PJE2 Hs.488877 2115628;2156163;2157980;2167953;5091112 D7S2308;D7S2875;STS-M60504;STS-U10099;ZP3A MGC8359;POM-ZP3;POM121 OTTHUMP00000161261;OTTHUMP00000208706;OTTHUMP00000208707;OTTHUMP00000208708;POM (POM121 homolog, rat) and ZP3 fusion;POM (POM121 rat homolog) and ZP3 fusion;POM-ZP3 fusion protein;POM121 and ZP3 fusion protein;POM121/ZP3 fusion protein APPROVED protein-coding ENSG00000146707 HGNC:9203 15974 600587 REVIEWED 1313480 POMT2 protein-O-mannosyltransferase 2 The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008] 14 14 14 q24 57779861 57825801 - 77741299 77787225 - 77274956 77320882 - 1580863;6480464;6907045;7240710;8554872;8699517 11162531;12460945;12477932;12508121;14699049;14702039;15489334;15894594;16344560;16698797;16712791;16887026;17634419;17878207;17923109;18490429;18513969;18804929;19138766;19299310;19880378;20301468;20301582;20816175;21782786;24250222;8889548 29954 G3V4X9;H0YJA9;H0YJJ4;H0YJK9;H0YJQ7;Q9UKY4 AB209114;ABBA01030655;ABBA01030656;AC007375;AC007954;AF105020;AI927974;AK023804;AK025962;AL049462;AL353956;AL554279;AMYH02029568;AY090480;BC031651;BE797202;BM127609;BM724049;BX248027;CB148531;CH471061;CR627447;DA056935;DB456599;NG_008897;NM_013382 AAF14118;AAF62558;AAF63184;AAH31651;AAM12046;BAD92351;CAB89256;CAD62348;CAH10531;EAW81276;EAW81277;NP_037514;Q9UKY4 Hs.132989 1646627;1717299;1748313;2109687;2116462;2132910;2144736;2187381;2191191;5022450 A008S04;BCD3315;D10S275;D14S1202;G66716;MARC_16033-16034:1017411527:1;POMT2_9616;RH122064;RH185;RH45185 DKFZp686G10254;FLJ22309;LGMD2N;MDDGA2;MDDGB2;MDDGC2 OTTHUMP00000246458;dolichyl-phosphate-mannose--protein mannosyltransferase 2;protein O-mannosyl-transferase 2 APPROVED protein-coding ENSG00000009830 HGNC:19743 09592 607439;613150;613156;613158 REVIEWED 1601994 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014] 1 1 1 p34.1 44941643 44973721 - 46654353 46685977 - 46188681 46220305 - 6480464;6907045;7240710;8554872;8699517 10737800;11709191;11742540;12467726;12477932;12588800;12788071;12975309;14702039;15207699;15236414;15466003;15489334;16344560;16710414;16712791;16857188;17370265;17869517;17878207;17881266;17906881;19299310;20301468;20301582;20816175;21361872;21684258;21727005;21988832;22419172;22554691;23689641;8125298;9915951 55624 B7Z7F2;B7Z7Q4;Q68CV6;Q8WZA1 AA918249;AB057356;ABBA01050844;ABBA01050845;AF250859;AK000284;AK022727;AK026430;AK055301;AK056186;AK225033;AK301923;AK302379;AK316399;AL672043;AMYH02000953;AMYH02000954;AW818474;AY358592;BC001471;BM999774;BQ448444;CB146374;CH471059;CR749700;DA187331;NG_009205;NM_001243766;NM_001290129;NM_001290130;NM_017739;XM_005271010;XM_006710755;XM_006710756 AAF71270;AAH01471;AAQ88955;BAA91053;BAB14207;BAB71960;BAH13588;BAH13690;BAH14770;CAH18478;EAX06932;EAX06933;EAX06934;EAX06935;EAX06936;NP_001230695;NP_001277058;NP_001277059;NP_060209;Q8WZA1;XP_005271067;XP_006710818;XP_006710819 Hs.525134 2124643;2186625;2189487;5014051;5016478;5020740;5022200;5037552 D8S2278;D8S2279;GDB:434012;L17809;L18426;MARC_7377-7378:992008389:1;RH12209;SHGC-74749 DKFZp761B182;FLJ20277;GNTI.2;GnT I.2;LGMD2O;MDDGA3;MDDGB3;MDDGC3;MEB;MGAT1.2;gnT-I.2 OTTHUMP00000008901;OTTHUMP00000008902;UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2;protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase;protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 APPROVED protein-coding ENSG00000085998 HGNC:19139 09493 253280;606822;613151;613157 REVIEWED 1323474 POP5 processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) ENCODES a protein that exhibits ribonuclease P activity (inferred); INVOLVED IN RNA phosphodiester bond hydrolysis, endonucleolytic (inferred); tRNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; FOUND IN nucleolar ribonuclease P complex (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; copper(2+) sulfate 12 12 12 q24.31 120651139 120653492 - 121016848 121019201 - 120579045 120581398 - 6480464;6907045 10352175;10931946;11042152;11413139;12477932;15096576;15489334;17081983;18164267;21139048;22082156;23314748;24816145;8125298 51367 Q969H6 AA918619;ABBA01020129;AC063943;AF070660;AF117232;AJ306296;AK223206;AK303144;AMYH02027377;BC012505;BI549018;BI668578;BU155588;CB995722;CH471054;NM_015918;NM_198202 AAD20966;AAF17213;AAH12505;BAD96926;BAG64248;CAC59822;EAW98205;EAW98206;EAW98207;EAW98208;NP_057002;NP_937845;Q969H6 Hs.279913 1797216;2149944;5127391 D12S2094;HSPC004;RH65847 HSPC004;RPP2;RPP20;hPop5 OTTHUMP00000239952;OTTHUMP00000239953;RNase MRP/RNase P protein-like;ribonuclease P/MRP protein subunit POP5 protein-coding ENSG00000167272 HGNC:17689 15158 609992 VALIDATED 1315010 POP7 processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN RNA phosphodiester bond hydrolysis (inferred); RNA phosphodiester bond hydrolysis, endonucleolytic (inferred); tRNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; FOUND IN cytoplasm (inferred); nucleolar ribonuclease P complex (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; copper atom 7 7 7 q22 95034260 95035707 + 100303676 100305123 + 100706053 100707500 + 1580863;6480464;6907045 11158571;12477932;12690205;14715275;15096576;15489334;15635413;20215441;21139048;21145461;21832049;21890473;21906983;21963094;22505724;22863883;22939629;24250222;24778252;9618478;9630247 10248 C9JYM0;O75817 ABBA01013189;AC009488;AJ572668;AMYH02016388;BC001430;BI666854;CH236956;CH471091;NM_005837;U94316 AAC24113;AAH01430;EAL23821;EAW76495;NP_005828;O75817 Hs.416994 1655538;5091467 RH48437;STS-T99819 0610037N12Rik;RPP2;RPP20;hPOP7 OTTHUMP00000041353;OTTHUMP00000211373;POP7 (processing of precursor, S. cerevisiae) homolog;RNaseP protein p20;processing of precursor 7, ribonuclease P subunit;processing of precursor 7, ribonuclease p subunit (s. cerevisiae);ribonuclease P protein subunit p20;ribonucleases P/MRP protein subunit POP7 homolog protein-coding ENSG00000172336 HGNC:19949 09357 606113 VALIDATED 1344009 PON3 paraoxonase 3 This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [provided by RefSeq, Jul 2008] 7 7 7 q21.3 89687888 89724394 - 94989181 95025702 - 95359872 95396375 - 1580863;5509926;5509927;5509925;5509924;6480464;8554872 16319130;16822964;17664137;20182519 11304457;11304470;11752456;12151850;12477932;12588779;12690205;12853948;14636952;14695884;14702039;14757195;14996478;15028279;15489334;15607899;15772423;15993332;16078734;16099434;16117861;16139510;16335952;16551349;16621408;17207965;17379834;17412306;17702780;17900266;18347034;18695162;18977341;19082953;19199708;19345057;19401157;19492856;19540141;19913121;19948975;20403997;20430392;20463093;20485444;20529763;20582942;20628086;20839225;20855565;20934178;20980077;21118365;21335322;21952037;22003209;22153698;22441669;8661009 5446 C9JZ99;F2Z2L3;F8WBV4;F8WD41;Q15166 AA860930;ABBA01045778;AC004022;AC005021;AF320003;AF329433;AK096114;AK304282;AMYH02016290;AV655538;AY805220;BC020908;BC070374;CD014095;CD014097;CD014100;CD014102;CH236949;CH471091;HH961856;L48516;NG_008726;NM_000940 AAC41996;AAH70374;AAK07629;AAO15365;AAV50000;ADQ32083;BAG65142;CBX51401;EAL24132;EAW76768;EAW76770;NP_000931;Q15166 Hs.440967 1691796 G42256 OTTHUMP00000204648;OTTHUMP00000205061;OTTHUMP00000205065;arylesterase 3;paraoxanase-3;serum paraoxonase/lactonase 3 APPROVED protein-coding ENSG00000105852 HGNC:9206 04098 602720 REVIEWED 1314291 POP4 processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 19 19 19 q12 26794995 26805986 + 30097170 30108162 + 29606263 29617255 + 1580863;6480464;6907045 10024167;10352175;11455963;12477932;14580343;15096576;15342556;15351636;15489334;15635413;16155184;16723659;21139048;21906983;24250222;24778252;24816145;8889548 10775 A8MYC1;K7EK50;K7EQV2;K7ERD7;K7ESH8;O95707 ABBA01039542;AC010505;AF001176;AK303791;AK314790;AMYH02035877;BC004438;BC006098;BC013686;BP245167;BU727144;CR536569;CR936714;NM_006627;NR_027368;Y18863 AAD00893;AAH04438;AAH06098;ABM83983;ABM87306;BAG37321;BAG64748;CAB39167;CAG38806;NP_006618;O95707 Hs.412870 1701606;2141995;2150228 RH104441;STS-W74757;WI-11914 RPP29;hPOP4 ribonuclease P protein subunit p29 APPROVED protein-coding HGNC:30081 09358 606114 REVIEWED 1320575 PON2 paraoxonase 2 This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 7 7 7 q21.3 89732873 89763084 - 95034174 95064636 - 95404862 95435072 - 1580216;1580217;1580218;1580219;1580863;1642614;1642625;2313490;2313491;2313492;5509926;5509925;6480464;8661257;8547560;8661240;8554872;8661255 10677395;11206400;11803456;11918623;12454802;12778447;16319130;16776623;16822964;17406108;18776646;21365757;22536512;23327886;9443862 11257265;11512679;11579088;11676977;11692002;11768721;12082592;12151850;12433026;12442067;12477932;12561466;12588779;12853948;12939804;12955589;14636952;14741412;14984433;14996478;15001326;15039125;15166781;15232408;15256524;15345661;15359538;15489334;15544923;15607899;15772423;15776585;16030523;16078734;16080611;16117861;16135439;16141008;16164576;16185677;16411107;16537434;16551349;16614106;16767666;16822965;16891303;16926679;17096118;17137217;17299970;17309646;17353931;17404154;17412306;17428620;17436100;17557249;17601350;17664137;17854416;17916643;17940058;18020951;18063859;18258817;18347034;18361900;18413200;18427977;18436804;18513389;18569577;18635682;18691157;18695162;18720901;18759523;18781797;18818748;18977241;18977341;19019335;19082953;19091699;19131662;19151417;19152805;19166692;19254215;19263529;19371607;19401157;19479237;19497963;19527514;19540141;19546579;19575027;19578796;19587357;19654933;19818126;19840942;19865538;19878569;19913121;19930448;19939821;19948975;20099504;20381198;20430392;20458436;20485444;20503442;20529763;20530481;20536507;20565774;20582942;20628086;20839225;20934178;20980077;21118365;21127310;21139048;21145461;21146823;21223581;21368884;21561808;21620813;21672555;21757906;21765051;21906983;21988832;22016051;22174317;22183305;22190034;22268729;22354994;22534874;22744335;22860094;22939629;22964087;23053877;23225229;23487294;23742759;23798571;24100645;24421402;24654937;24727057;8661009;9329371;9714608;9847074 5445 G3XAK4;J3QT77;Q15165 AB102891;ABBA01045778;AC004012;AC005021;AF001601;AF001602;AF001603;AK291103;AK296029;AK296636;AK301313;AK308065;AK315209;AMYH02016290;AY210982;BC009728;BC040010;BC046160;BC093006;CB961097;CH236949;CH471091;L48513;NG_008725;NM_000305;NM_001018161;XM_005250453;XM_005250454 AAC27944;AAC27945;AAC27946;AAC41995;AAC62431;AAH09728;AAH40010;AAH46160;AAO18083;BAD89420;BAF83792;BAG37646;BAG58797;BAG59238;BAG62864;EAL24131;EAW76763;EAW76764;EAW76765;EAW76766;EAW76767;NP_000296;NP_001018171;Q15165;XP_005250510;XP_005250511 Hs.744912 1647955;1648877;1660153;1699552;1723093;1740201;1854025;2139916 D7S2091E;D7S2405;D7S2922;RH103375;RH121983;RH45355;RH45934;WI-12654 PON 2 A-esterase 2;OTTHUMP00000204703;OTTHUMP00000204704;OTTHUMP00000204705;aromatic esterase 2;arylesterase 2;paraoxonase nirs;serum aryldialkylphosphatase 2;serum paraoxonase/arylesterase 2 1643388 BW321_H APPROVED protein-coding ENSG00000105854 HGNC:9205 03903 602447 REVIEWED 1318482 POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 8 8 8 q22.1 95315383 95357929 + 99129521 99172069 + 98117293 98159841 + 1580863;6480464;6907045 10199568;11455963;11694598;11790298;12477932;12483731;15096576;15302935;15342556;15635413;16723659;17178784;18781797;19380743;19471022;20360068;20453000;21053045;21139048;21145461;21182205;21509594;21906983;22210626;22586326;22751105;22863883;22939629;22991464;23667531;24163370;24250222;24778252;24816145;25027693;7584044;8918471;9405234;9725903 10940 E5RK39;Q96F88;Q99575 ABBA01037534;ABBA01037535;AK000837;AK291434;AMYH02018481;AP003439;BC011529;BF511088;BP249298;BP280616;CH471060;D31765;KC877277;KF458811;NM_001145860;NM_001145861;NM_015029;X99302 AAH11529;ADZ15541;BAA06543;BAF84123;CAA67684;EAW91776;NP_001139332;NP_001139333;NP_055844;Q99575 Hs.252828 1335408;1663894;1670244;1682980;1766971;1774833;1779050;2134187 D8S1634;D8S1778;D8S1954;RH17435;RH25294;RH66205;SHGC-152514;STS-T86935 KIAA0061;MGC17365;hPOP1 OTTHUMP00000227073;OTTHUMP00000227074;processing of precursors 1;ribonucleases P/MRP protein subunit POP1 APPROVED protein-coding ENSG00000104356 HGNC:30129 03923 602486 REVIEWED 1352577 POPDC2 popeye domain containing 2 This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 117769457 117787954 - 119360899 119379437 - 119642052 119660590 - 1302855;1580863;6480464 10882522 12477932;15489334;17207965;8125298 64091 C9J3P7;H7C5T7;Q9HBU9 ABBA01061581;AC023494;AC073352;AF204173;AK226022;AK314819;AK377174;AK377176;AK377177;AK377178;AK377179;AK377180;AK377181;AK377182;AK377183;AK377184;AMYH02007503;BC026911;BC044929;NM_022135;XM_005247698;XM_005247699;XR_241504 AAG23406;AAH26911;AAH44929;ADQ33129;NP_071418;Q9HBU9;XP_005247755;XP_005247756 Hs.534383;Hs.656031 1765773;1780206;1857348;2184695 SHGC-149207;SHGC-154625;SHGC-77234;SHGC-77235 POP2 OTTHUMP00000215338;OTTHUMP00000215339;OTTHUMP00000215550;OTTHUMP00000215551;popeye domain-containing protein 2;popeye protein 2 APPROVED protein-coding ENSG00000121577 HGNC:17648 16160 605823 REVIEWED 1343900 PORC porphyria, acute; Chester type ASSOCIATED WITH Focal Dermal Hypoplasia (inferred) 7240710 2864531;8340112 5448 HGNC:9209 305600 68468 POR P450 (cytochrome) oxidoreductase This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq, Jul 2008] 7 7 7 q11.2 70412991 70484717 + 75544420 75616173 + 75915102 75986855 + 1580863;1599697;1625563;2325883;4889128;4889811;4892309;6480464;7240710;8554872;8699517 11742006;15793702;15942020;17505056;17926129;18821018 10048323;10448278;10990198;11035953;11118675;11123926;11181502;11329262;11329263;11350900;11716457;11926825;11971899;12477932;12626517;12688675;12725870;12782579;12787027;12901793;14758361;14999778;15220035;15264278;15342556;15483095;15489334;1550342;15666840;15680923;16169070;16344560;16434211;16445284;16467261;16520232;16574318;16998238;17018578;17440066;17580970;17595315;17635179;17827787;17881660;18216718;18230729;18259105;18397975;18551037;18559916;18630181;18681889;18781797;19161969;19258400;19374516;19448135;19598235;19744540;19805543;19837910;19858215;19884324;19913121;19946888;20096935;20301592;20628086;20697309;20722625;20732302;20844025;20849814;20879989;20940534;21070833;21081644;21084761;21139048;21164260;21252943;21265736;21393444;21655236;21726529;21741353;21762695;21770725;21843508;21890473;21900206;21900384;21963094;21973081;21988832;22162478;22177374;22462747;22545110;22547083;22797925;23000965;23353702;23911089;24113216;24196959;24448396;24464600;24465960;24491563;24589657;24816145;2513880;2516426;7703255;8460938;8615895;8812989;9335117;9398194;9618440;9642268;9787138;9847074;9888582 5447 C9JDE2;C9JQ78;C9JU80;E7EMD0;E7EWU0;H0Y4R2;P16435 AB051763;AB209874;ABBA01005894;ABBA01005895;ABBA01005896;ABBA01005897;AC005067;AC006330;AF258341;AK129978;AK290529;AK293194;AK296096;AK296639;AK304511;AK312543;AMYH02016072;AMYH02016073;AMYH02016074;AMYH02016075;BC034277;BG104767;BP244929;BX648619;CH471220;DA701694;DQ640499;NG_008930;NM_000941;S90469 AAB21814;AAD45961;AAG09798;AAH34277;ABF70199;BAB18572;BAD93111;BAF83218;BAG35442;BAG56734;BAG58850;BAG59240;BAG65317;CAH56151;EAW71777;EAW71778;EAW71779;EAW71780;NP_000932;P16435 Hs.354056 1655895;1725639;1740191;1790353;1798002;2126758;2137685;2137687 D7S1440;D9S1774;G62098;POR;POR_2999;RH11643;RH68122;SHGC-60143 CPR;DKFZp686G04235;FLJ26468;P450R CYPOR;NADPH--cytochrome P450 reductase;NADPH-dependent cytochrome P450 reductase;OTTHUMP00000160964;OTTHUMP00000185560;OTTHUMP00000210071 APPROVED protein-coding ENSG00000127948 HGNC:9208 00485 124015;201750;613571 REVIEWED 1603972 PORCN porcupine homolog (Drosophila) This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2013] X X X p11.23 53286529 53298360 - 48367347 48379202 + 48508959 48520814 + 6480464;6907045;7240710;7365109;8554872;8699517 23439944 10866835;12034504;12477932;14702039;15146197;15489334;17546030;17546031;18193088;18325042;19277062;19309688;19586929;19681149;19863546;20198348;20301533;20301712;20854095;21472892;22509316;22735390;22888000;22923569;23131169;23188502;23399492;23547709;23696273 64840 C9JWI5;F2Z360;F8VTB3;F8WEW7;Q9H237 ABBA01046009;ABBA01046010;AF196972;AF317058;AF317059;AF317060;AF317061;AK056340;AK057727;AK293347;AK314745;AK316378;AL538245;AL579208;AMYH02039304;BC019080;BM543485;BM545893;CH471224;CN310467;HY002842;L08239;NG_009278;NM_001282167;NM_022825;NM_203473;NM_203474;NM_203475;XM_005272635;XM_005272636;XM_005272637;XM_006724542;XM_006724543;XM_006724544;XM_006724545;XM_006724546;XM_006724547;XM_006724548 AAA74510;AAG39628;AAG39629;AAG39630;AAG39631;AAH19080;ABM83558;ABM86795;BAG37285;BAG51958;BAG56863;BAH14749;EAW50777;EAW50778;EAW50779;EAW50780;EAW50781;NP_001269096;NP_073736;NP_982299;NP_982300;NP_982301;Q9H237;XP_005272692;XP_005272693;XP_005272694;XP_006724605;XP_006724606;XP_006724607;XP_006724608;XP_006724609;XP_006724610;XP_006724611 Hs.386453 1702714;2112850;2133049;2217798 DXS7465E;DXS9869E;PORCN_3674;RH17606 DHOF;FODH;MG61;MGC29687;PORC;PPN;por 2410004O13Rik;OTTHUMP00000025784;OTTHUMP00000025785;OTTHUMP00000216273;OTTHUMP00000216274;probable protein-cysteine N-palmitoyltransferase porcupine;protein-cysteine N-palmitoyltransferase porcupine APPROVED protein-coding ENSG00000102312 HGNC:17652 06680 300651;305600 REVIEWED 1602025 POT1-AS1 POT1 antisense RNA 1 DISCONTINUED: This record has been withdrawn by NCBI staff. This record, defined by NM_001023566.1 and AK090675.1, appears to define an endogenous retrovirus and is not in scope for Entrez Gene. 7 q31.33 124357167 124428194 + 8554872 12477932;14702039 401398 Q8NBE4 AC019155;AC073322;AC096665;AK090675;BC142949;BM674798;BX648695;CH236947;DA063136;NR_125718;NR_125719;XM_001715410;XM_001718468;XM_001718596 BAC03501;EAL24323;XP_001715462;XP_001718520;XP_001718648 Hs.658551 APPROVED ncrna HGNC:49459 18627 VALIDATED 1343916 POPDC3 popeye domain containing 3 This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008] 6 6 6 q21 106227913 106249989 - 105605775 105627858 - 105157900 105179983 - 1302855;6480464;8554872 10882522 12477932;14574404;15489334;17207965;18391951;19448622;19913121;20546612;20627872;20628086;21654844;22654436;24531343;8125298 64208 Q5T554;Q9HBV1 ABBA01014398;AF204171;AK225989;AK314101;AL356775;AMYH02014226;BC022323;BF244570;CA433204;CH471051;NM_022361;NR_024539 AAG23404;AAH22323;ADQ32144;BAG36795;EAW48427;EAW48428;NP_071756;Q9HBV1 Hs.458336 1674928;1688490;1694258;2159781;2219538 AL008740;POPDC3__5747;RH46697;RH93144;WI-15170 MGC22671;POP3;RP11-99L11.2;bA355M14.1 OTTHUMP00000016914;popeye domain-containing protein 3;popeye protein 3 APPROVED protein-coding HGNC:17649 16161 605824 REVIEWED 1349272 PON1 paraoxonase 1 The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008] 7 7 7 q21.3 89626366 89652590 - 94927669 94953884 - 95298357 95324572 - 1580196;1580197;1580198;1580199;1580200;1580201;1580202;1580203;1580204;1580227;1580863;1642617;1642618;1642628;2313268;2313270;2313273;2307252;2313266;2313267;2313269;2313272;5509926;5509927;5509924;6480464;7240710;8547559;8547562;8547549;8547550;8547583;8547551;8547561;8547552;8547682;8547681;8547553;8551792;8547573;8547684;8547666;8547668;8547537;8547547;8547560;8547572;8547662;8547670;8547548;8547659;8547675;8547555;8547663;8547556;8547571;8547574;8547582;8547563;8547685;8547774;8554872;8699517;8661246 10610741;10677395;10729395;10978258;11788650;11889198;11917194;11935033;12621166;12897486;14602783;15214960;15270786;15324535;15377545;15488805;15774926;15785307;16043712;16319130;16380766;16411107;16627808;16949520;17428620;17664137;17949258;18084236;18290860;18358245;19005291;19155603;19207863;19328014;19433263;19439227;19628957;20012460;20042177;20182519;20497955;20660283;22553514;22956172;23238704;23267397;23406590;23432778;23441121;23441349;23538572;23768700;24100645;24148525;7749820;9215303;9591753;9763534;9862174 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;20551012;20577119;20582942;20602615;20615707;20625960;20628086;20634891;20639675;20646512;20658496;20664283;20673868;20679960;20691716;20692246;20709049;20723250;20734577;20802378;20807524;20812194;20819778;20820904;20833162;20839225;20845892;20850524;20855565;20856122;20872564;20883119;20921272;20934178;20947215;20961187;20980077;20981111;21031563;21039385;21044781;21044882;21059866;21078685;21104436;21108196;21111108;21118365;21123122;21127310;21146823;21162838;21167145;21170047;21187701;21223956;21229382;21231776;21258965;21268919;21287574;21291901;21302675;21308654;21355294;21360915;21407247;21427447;21438666;21446159;21450592;21465165;21505009;21521796;21527445;21530644;21539819;21545792;21557696;21561808;21573798;21620813;21629682;21655055;21672555;21681430;21692977;21718208;21722818;21723555;21737645;21737961;21748243;21755523;21757906;21765051;21783258;21803130;21806387;21820612;21829028;21864557;21873946;21887553;21904599;21907728;21911985;21918510;21960140;21960992;21982484;21986144;21997314;22029190;22030099;22067439;22074696;22086979;22098435;22115701;22123566;22133529;22168506;22188760;22193970;22206979;22222492;22247228;22285382;22301914;22320866;22322559;22333293;22367101;22378349;22401958;22428615;22520065;22521594;22555481;22568797;22615820;22616668;22631428;22659076;22703625;22704918;22723959;22750393;22750797;22751611;22776645;22796398;22800774;22813564;22822045;22835076;22846213;22847926;22854640;22868806;22884547;22890407;22896672;22934769;22952763;22959975;22971504;22974728;22975224;22976839;22982463;23007074;23053877;23054002;23056015;23068968;23103709;23137417;23159884;23160181;23167629;23171143;23182497;23204156;23207490;23278234;23281178;23305304;23316782;23346768;23356507;23370296;23391848;23418418;23426541;23435062;23438848;23471031;23487294;23497787;23508039;23547806;23551806;23557751;23582715;23590198;23602893;23606795;23608957;23625196;23628180;23637274;23651475;23658746;23669169;23672526;23680251;23688862;23706841;23709379;23710701;23742759;23789921;23791833;23821382;23834345;23865359;23893804;23908111;23917967;23936524;23993903;24024900;24028323;24028901;24057271;24080149;24123308;24130171;24167353;24170778;24186356;24200861;24206655;24211756;24228251;24229619;24267244;24280342;24314997;24423117;24834831;24988089;6324579;7638166;7916578;8098250;8292612;8382160;8393742;8393745;8661009;8675673;8770857;8812495;9011577;9261565;9661650;9714608 5444 F8WF42;P27169 ABBA01045778;AC004022;AF051133;AF402963;AF402965;AF539592;AK314027;AMYH02016289;AMYH02016290;AV652982;BC074719;BJ993711;CB122285;CH236949;CH471091;D84371;L48710;M63012;M63013;M63014;NG_008779;NM_000446;S56555;S64615;S64696;U53784;U55877;U55885;Z70723 AAA60142;AAA60143;AAA97957;AAB25717;AAB27714;AAB27899;AAB41835;AAB59538;AAC35293;AAD02576;AAH74719;AAL04502;AAL04504;AAM97935;BAA12327;BAG36737;CAA94728;EAL24133;EAW76771;NP_000437;P27169 Hs.370995 1676146;1694888;1742265;2149582;2175498 G44327;GDB:194296;RH12859;RH92541;STS-M63012 ESA;K-45;MVCD5;PON;PON 1 A-esterase 1;OTTHUMP00000204571;aromatic esterase 1;arylesterase 1;arylesterase B-type;esterase A;paraoxonase B-type;serum aryldiakylphosphatase;serum aryldialkylphosphatase 1;serum paraoxonase/arylesterase 1 1643388;1643401 BMD1_H;BW321_H APPROVED protein-coding HGNC:9204 01351 168820;612633 REVIEWED 1604173 POTEB POTE ankyrin domain family, member B INTERACTS WITH 3-methylcholanthrene; aflatoxin B1; calcitriol 15 15 22051853 22083137 - 21846329 21877286 - 6480464 12475935;12477932;15276201;15489334;16572171;19718026;20379614 100996331 H3BUK9;Q6S5H4 AC183089;AMYH02030010;BC101007;NM_001277304;NR_102391;XM_006720355 AAI01008;NP_001264233;XP_006720418 Hs.722659 A26B1;CT104.5;MGC119371;MGC119373;POTE-15;POTE15 ANKRD26-like family B member 1;ANKRD26-like family B, member 1;POTE ankyrin domain family member B;POTE ankyrin domain family member B-like;cancer/testis antigen family 104, member 5;prostate, ovary, testis-expressed protein on chromosome 15;protein expressed in prostate, ovary, testis, and placenta 15 protein-coding ENSG00000233917 HGNC:33734 608912 VALIDATED 1344340 POT1 protection of telomeres 1 This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] 7 7 7 q31.33 119267687 119375230 - 124462440 124570037 - 124822386 124929983 - 1580863;6480464 11349150;12391173;12477932;12768206;12781132;12853948;14702039;14715659;14744765;15060173;15181449;15231715;15316005;15383534;15489334;15558049;15620654;15632080;15657433;15792951;15973431;16030011;16043710;16166375;16344560;16880378;17237767;17237768;17632522;17848914;18066078;18178559;18425352;18519588;18676680;18922974;18955498;19170196;19262689;19285750;19424630;19625176;19648609;19651898;19692168;19734539;19766477;19773453;19812417;19854130;20008939;20056641;20094033;20549820;20811636;20937264;21044950;21048031;21098121;21183684;21209389;21399625;21461822;21684252;21778296;21855630;21890473;21988832;22336916;23317234;23502782;23616058;24054699;24239198;24250222;24292274;24516170;24631651;24686846;24686849;8889548 25913 A8MTK3;B7Z7M5;C9JPG9;H7C0Z6;H7C4C7;Q5MJ33;Q5MJ34;Q5MJ35;Q9NUX5;V9GY10;V9GYE6;V9GZ00;V9GZ21 ABBA01057709;ABBA01057710;ABBA01057711;AC004925;AC096665;AC110791;AK001230;AK001935;AK022580;AK026234;AK302263;AL050120;AMYH02016691;AX877855;AX882207;AY823520;AY823521;AY823522;AY823523;AY823524;BC002923;BM693856;CH236947;CH471070;DA412639;DA580630;DA707481;NG_029232;NM_001042594;NM_015450;NR_003102;NR_003103;NR_003104;XM_006715917 AAD08852;AAH02923;AAW22613;AAW22614;AAW22615;AAW22616;AAW22617;ABM83691;ABM87009;BAA91568;BAA91988;BAB14110;BAB15404;BAH13661;CAB43281;CAE89907;CAE91483;EAW83615;EAW83616;EAW83617;NP_001036059;NP_056265;Q9NUX5;XP_006715980 Hs.31968 1729299;1786382;1796534;1851576;2117216;2125104 G64162;GDB:1318142;POT1_1702;SHGC-171953;WI-16165;WI-22258 CMM10;DKFZp586D211;HPOT1 OTTHUMP00000211675;OTTHUMP00000211676;POT1 protection of telomeres 1 homolog;POT1-like telomere end-binding protein;protection of telomeres 1 homolog;protection of telomeres protein 1 APPROVED protein-coding ENSG00000128513 HGNC:17284 07572 606478;615848 REVIEWED 2291751 POTEC POTE ankyrin domain family, member C ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH calcitriol; pirinixic acid; testosterone 18 18 18 p11.21 1017 6816 - 14511737 14543599 - 14511738 14543600 - 6480464;8554872 12475935;12477932;23000965 388468 B2RU33;D7UEQ8 AK307658;AMYH02034358;AP006261;BC140940;BX649118;NM_001137671 AAI40941;B2RU33;NP_001131143 Hs.454726 A26B2;CT104.6;DKFZp686J0529;POTE-18;POTE18 ANKRD26-like family B member 2;ANKRD26-like family B, member 2;OTTHUMP00000222973;OTTHUMP00000222974;POTE ankyrin domain family member C;cancer/testis antigen family 104, member 6;prostate, ovary, testis-expressed protein on chromosome 18 protein-coding ENSG00000183206 HGNC:33894 VALIDATED 1353593 POTED POTE ankyrin domain family, member D ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH copper(2+) sulfate; MeIQx; PhIP 21 21 21 q11.2 1017 6413 - 14982498 15013937 + 13610177 13641585 + 1580863;6480464;8554872 10830953;12475935;15276201;16364570;17996727;22234308;23000965 317754 Q86YR6 AMYH02037514;AP001465;NM_174981;XM_006723997 AAI66701;NP_778146;Q86YR6;XP_006724060 Hs.742365 A26B3;ANKRD21;CT104.1;POTE;POTE-21;POTE21 ANKRD26-like family B member 3;ANKRD26-like family B, member 3;Expressed in prostate, ovary, testis, and placenta;OTTHUMP00000082910;POTE ankyrin domain family member D;ankyrin repeat domain 21;ankyrin repeat domain-containing protein 21;cancer/testis antigen family 104, member 1;prostate, ovary, testis-expressed protein protein-coding ENSG00000166351 HGNC:23822 09612 607549 VALIDATED 1603854 POTEA POTE ankyrin domain family, member A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 8 8 8 p11.1 42097375 42168102 + 43147585 43218328 + 43292442 43363185 + 6480464;8554872 12475935;15276201;16364570 340441 Q6S8J7 ABBA01021196;AC022616;AMYH02017915;AY462869;AY462870;NM_001002920;NM_001005365 AAI48509;AAI53077;AAS58863;AAS58864;NP_001002920;NP_001005365;Q6S8J7 Hs.531579 2120446 D8S372 A26A1;CT104.3;POTE-8;POTE8 ANKRD26-like family A member 1;ANKRD26-like family A, member 1;POTE ankyrin domain family member A;cancer/testis antigen family 104, member 3;prostate, ovary, testis-expressed protein on chromosome 8;protein expressed in prostate, ovary, testis, and placenta 8 protein-coding HGNC:33893 12330 608915 VALIDATED 1604415 POTEE POTE ankyrin domain family, member E INVOLVED IN retina homeostasis; substantia nigra development; ASSOCIATED WITH Melanoma (inferred); FOUND IN blood microparticle; extracellular space; extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; calcitriol; paracetamol 2 2 2 q21.1 941 1534 - 131975924 132022944 + 131218351 131265448 + 6480464;8554872 15276201;16364570;16824795;17101985;17370265;18447647;19669888;21110914;21139048;21800051;21853274;21906983;21963094;21987572;22178446;22266860;22505724;23000965;24457600;24778252 445582 Q562T6;Q6S8J3 ABBA01244812;AC131180;AMYH02004806;AMYH02004807;AMYH02004808;AY462868;AY462871;AY462872;AY462873;AY970426;AY970462;HM358964;HM358975;NM_001083538;XM_006712538 AAS58862;AAS58865;AAS58866;AAS58867;AAX82235;AAX82269;NP_001077007;Q6S8J3;XP_006712601 Hs.686146 5019353;5019355;5023519 PMC109445P1;PMC109653P1;PMC23952P1 A26C1;A26C1A;CT104.2;POTE-2;POTE2;POTE2gamma ANKRD26-like family C member 1A;ANKRD26-like family C, member 1A;POTE ankyrin domain family member E;cancer/testis antigen family 104, member 2;prostate, ovary, testis-expressed protein on chromosome 2;protein expressed in prostate, ovary, testis, and placenta 2 protein-coding ENSG00000188219 HGNC:33895 12329 608914 VALIDATED 5683647 POTEH-AS1 POTEH antisense RNA 1 q11.1 16344560 100852406 AP000529;BF676535;DA868311;NR_046571 Hs.96459 5122171 D14S761 APPROVED ncrna HGNC:40058 VALIDATED 1605777 POTEG POTE ankyrin domain family, member G INTERACTS WITH calcitriol; silicon dioxide; testosterone 14 14 14 q11.2 2428 2877 + 19553365 19584942 + 19402764 19434341 - 6480464 10737800;12477932;15276201;16824795;21139048;21906983;23000965 404785 Q6S5H5 AL512624;AMYH02028782;AMYH02028783;AMYH02028784;AY462874;AY465171;AY465172;BC127623;CV341500;NM_001005356;NR_027480 AAI27624;AAI56490;AAI72559;AAS58868;AAS58870;AAS58871;NP_001005356;Q6S5H5 Hs.711826 5016781 SHGC-67307 A26C2;ACTBL1;CT104.4;POTE-14;POTE14;POTE14alpha;POTE22 ANKRD26-like family C member 2;ANKRD26-like family C, member 2;OTTHUMP00000243527;OTTHUMP00000243528;POTE ankyrin domain family member G;cancer/testis antigen family 104, member 4;prostate, ovary, testis-expressed protein on chromosome 14;protein expressed in prostate, ovary, testis, and placenta 14 protein-coding ENSG00000187537 HGNC:33896 12331 608916 VALIDATED 1346397 POTEH POTE ankyrin domain family, member H ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH amiodarone; calcitriol; testosterone 22 22 22 q11.1 2428 2877 + 16256332 16287937 - 15690026 15721631 + 6480464;8554872 10591208;12475935;15276201;21139048;21439273;21906983;23000965 23784 H0YG78;Q6S545 ABBA01148020;AMYH02037969;AP000529;AY466021;CR545463;NM_001136213 AAI48506;AAI48759;AAS58873;NP_001129685;Q6S545 Hs.581075 5016781 SHGC-67307 A26C3;ACTBL1;CT104.7;POTE22 ANKRD26-like family C member 3;ANKRD26-like family C, member 3;OTTHUMP00000220698;POTE ankyrin domain family member H;POTE-22;actin, beta-like 1;cancer/testis antigen family 104, member 7;prostate, ovary, testis-expressed protein on chromosome 22;protein expressed in prostate, ovary, testis, and placenta 22;protein expressed in prostate, ovary, testis, and placenta POTE14 like protein-coding ENSG00000198062 HGNC:133 16403 608913 PROVISIONAL 1313223 POSTN periostin, osteoblast specific factor ENCODES a protein that exhibits heparin binding (ortholog); INVOLVED IN cell adhesion; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular matrix; trans-Golgi network; proteinaceous extracellular matrix (ortholog); INTERACTS WITH 17beta-estradiol; 5-fluorouracil; aflatoxin B1 13 13 13 q13.3 19190321 19226587 - 38136719 38172981 - 37562582 37598844 - 1580863;6480464;8554872 11550156;12235007;12477932;14702039;15057823;15082792;15093540;15342556;15880581;16136586;16335952;16368877;16702213;16807673;17014703;17043657;17060937;17649947;17876898;18086302;18097555;18208976;18270434;18381746;18434370;18443362;18450759;18465194;18487994;18560459;18753297;18799196;18949745;19038863;19079190;19141349;19321256;19328625;19419450;19453261;19478074;19524268;19578758;19619531;19688273;19695571;19834535;19887451;19893021;19913121;19932262;20056178;20096135;20112500;20309942;20459570;20489157;20516120;20534149;20628086;20654574;20654714;20660732;20688362;21177844;21225237;21290209;21347516;21474826;21508107;21558869;21573804;21605971;21677839;21714934;21801849;21839814;21854746;22166650;22167593;22215184;22222231;22266908;22403621;22471299;22590609;22659570;22706927;22735632;22911870;22918213;22952986;23043074;23076534;23275141;23306834;23326517;23372176;23378472;23453657;23467707;23702840;23728938;23735324;23791506;23896380;24009721;24055232;24129188;24368280;24628551;24747072;8363580 10631 B1ALD9;Q15063 ABBA01021331;AI580215;AK021444;AK300261;AK304640;AL138679;AL646087;AMYH02027881;AMYH02027882;AMYH02027883;AY140646;AY918092;BC106709;BC106710;BG938993;BP335818;BQ575951;BY795054;CH471075;D13665;D13666;DC403736;EU262883;EU262884;EU262885;EU262886;GU354210;NM_001135934;NM_001135935;NM_001135936;NM_001286665;NM_001286666;NM_001286667;NM_006475;XM_005266231;XM_005266232 AAI06710;AAI06711;AAN17733;AAY15840;ABY86630;ABY86631;ABY86632;ABY86633;ADA79517;BAA02836;BAA02837;BAG65419;BAH13247;EAX08590;EAX08591;EAX08592;EAX08593;EAX08594;NP_001129406;NP_001129407;NP_001129408;NP_001273594;NP_001273595;NP_001273596;NP_006466;Q15063;XP_005266288;XP_005266289 Hs.136348;Hs.721018 1646337;1770181;1848360;2114088;2124375;2189537;2219540 D13S1465;D13S1689;OSF-2;POSTN__5748;RH70782;STS-H12747;UniSTS:234679 MGC119510;MGC119511;OSF-2;OSF2;PDLPOSTN;PN;RP11-412K4.1 OTTHUMP00000018268;OTTHUMP00000018269;OTTHUMP00000018270;OTTHUMP00000018271;osteoblast specific factor 2 (fasciclin I-like);osteoblast-specific factor 2;periodontal ligament-specific periostin;periostin;periostin isoform thy2;periostin isoform thy4;periostin isoform thy6;periostin isoform thy8 protein-coding ENSG00000133110 HGNC:16953 12295 608777 VALIDATED 7245271 POTEB2 POTE ankyrin domain family, member B2 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); ammonium chloride (ortholog) 15 15 q11.2 21040701 21071650 - 20835372 20866321 - 6480464 12475935;12477932;20379614;23000965 100287399 H3BUK9;Q495V5 AC012414;AMYH02029993;AMYH02029994;BC101007;NM_001277303;NR_102390;XM_006720354 AAI01008;H3BUK9;NP_001264232;XP_006720417 Hs.722659 POTE ankyrin domain family member B-like;POTE ankyrin domain family member B2 protein-coding ENSG00000230031 HGNC:48327 VALIDATED 3077730 POTEI POTE ankyrin domain family, member I INVOLVED IN retina homeostasis; PARTICIPATES IN auditory mechanotransduction pathway; ASSOCIATED WITH Presbycusis (inferred); FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH (+)-catechin (ortholog); (+)-epicatechin-3-O-gallate (ortholog); (+)-pilocarpine (ortholog) 2 2 q21.1 131220234 131266808 - 130462816 130509235 - 6480464;8547669;1331525 15118671;20624897 15815621;16364570;16824795;17342744;21139048;21906983;22505724;23000965 653269 P0CG38;Q562X7 AC013269;AMYH02004775;AMYH02004776;AMYH02004777;AMYH02004778;AY970385;AY970392;HM358987;NM_001277406 AAX82194;AAX82201;NP_001264335;P0CG38 Hs.558782 1794960;5019353;5019355;5023519 PMC109445P1;PMC109653P1;PMC23952P1;PMC86032P2 POTE2beta OTTHUMP00000204729;POTE ankyrin domain family member I protein-coding HGNC:37093 INFERRED 1606361 POTEKP POTE ankyrin domain family, member K, pseudogene ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN blood coagulation (inferred); platelet activation (inferred); platelet degranulation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; methyl methanesulfonate; thapsigargin 2 2 2 q21.1 126073991 126109681 + 132349666 132366974 + 131592093 131609401 + 6480464 14630798;16341674;16364570;16824795;19322201;21080425;21800051;21906983;22178446;22939629;24639526;6457647 440915 Q562Q1;Q9BYX7 ABBA01028228;ABBA01028229;AC093838;AMYH02004810;AY014272;AY970463;AY970464;BM763453;HM358967;HM358970;HM358980;HM358985;HM358990;NR_033885 AAG50355;AAX82270;AAX82271;Q9BYX7 Hs.631267 1793334;2190487;5019353;5023519 ACTB-L;PMC109445P1;PMC209527P1;PMC23952P1 ACT;ACTBL3;FKSG30;POTE2delta POTEK;putative beta-actin-like protein 3 APPROVED pseudo HGNC:30182 18642 611266 PROVISIONAL 2289881 POTEF POTE ankyrin domain family, member F INVOLVED IN retina homeostasis; ASSOCIATED WITH Melanoma (inferred); FOUND IN blood microparticle; extracellular space; extracellular vesicular exosome; INTERACTS WITH (+)-catechin (ortholog); (+)-epicatechin-3-O-gallate (ortholog); (+)-pilocarpine (ortholog) 2 2 2 q21.1 941 1534 - 130831108 130886795 - 130073535 130129222 - 6480464;8554872 15815621;16824795;17101985;17370265;19669888;21139048;21800051;21853274;21906983;22178446;22505724;22944692;23000965;24639526 728378 A5A3E0;A6NC16 ABBA01017941;AC018804;AC018865;AMYH02004770;AMYH02004771;AMYH02004772;AMYH02004773;AMYH02004774;AY970461;EF523384;HM358933;HM358938;HM358957;HM358969;JN038572;NM_001099771 A5A3E0;AAX82268;ABP57734;AER27512;NP_001093241 Hs.580547 1791786;1794960;5019353;5019355;5023519 PMC109445P1;PMC109653P1;PMC125678P1;PMC23952P1;PMC86032P2 A26C1B;ACTB;POTE2alpha ANKRD26-like family C member 1B;ANKRD26-like family C, member 1B;OTTHUMP00000204218;POTE ankyrin domain family member F;POTE-2 alpha-actin;POTEACTIN;beta actin;chimeric POTE-actin protein;prostate, ovary, testis expressed protein on chromosome 2 protein-coding ENSG00000196604 HGNC:33905 VALIDATED 3378638 POTEM POTE ankyrin domain family, member M INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2-methylcholine; calcitriol 14 14 14 q11.2 1 3828 + 19983954 20020272 - 18967434 19003752 + 6480464 12477932;12508121;16364570;16824795;21139048;21906983;23000965 641455 A6NI47;F8W858;G3V2R0 ABBA01123614;ABBA01137076;AL589182;AL929601;AMYH02028798;AMYH02028799;AMYH02028800;AY338952;AY970378;AY970386;AY970387;AY970388;AY970389;AY970390;AY970391;AY970428;AY970430;AY970431;AY970432;AY970446;AY970447;AY970454;AY970455;AY970456;AY970457;AY970458;AY970460;AY970479;AY970480;AY970502;BC063888;HM358945;HM358955;HM358968;HM358973;HM358979;HM358983;HM358995;NM_001145442 A6NI47;AAX82187;AAX82195;AAX82196;AAX82197;AAX82198;AAX82199;AAX82200;AAX82237;AAX82239;AAX82240;AAX82241;AAX82255;AAX82256;AAX82261;AAX82262;AAX82263;AAX82264;AAX82265;AAX82267;AAX82285;AAX82286;AAX82308;NP_001138914 Hs.654289 1728921;5019355;5023519 Actb-rs1;PMC109653P1;PMC23952P1 ACT;P704P;POTE14beta ANKRD26-like family C member ENSP00000349402;OTTHUMP00000244111;OTTHUMP00000244112;actin-like;prostate-specific P704P;putative POTE ankyrin domain family member M protein-coding ENSG00000187537 HGNC:37096 PROVISIONAL 2947058 POTEJ POTE ankyrin domain family, member J INVOLVED IN retina homeostasis; FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH (+)-catechin (ortholog); (+)-epicatechin-3-O-gallate (ortholog); (+)-pilocarpine (ortholog) 2 2 q21.1 131369106 131415610 + 130611533 130658037 + 6480464 12475935;15815621;16364570;16397215;16824795;17101985;18447647;19463943;21853274;21906983;23084401;24639526 653781 P0CG39;Q562T5 ABBA01040137;ABBA01040138;ABBA01165294;AC140481;AMYH02004798;AY970427;HM358950;HM358962;HM358992;HM358994;NM_001277083 AAX82236;NP_001264012;P0CG39 Hs.558829 5019353;5019355;5023519 PMC109445P1;PMC109653P1;PMC23952P1 POTE2beta;POTE2beta' OTTHUMP00000204945;POTE ankyrin domain family member J protein-coding ENSG00000222038 HGNC:37094 VALIDATED 8158491 POTENP POTE ankyrin domain family, member N, pseudogene 17 17 17 p11.2 18084912 18085789 + 17145325 17146202 + 17242011 17242888 + 441783 ABBA01009766;AC055811;AMYH02033088;NG_022456 pseudo HGNC:49661 INFERRED 1347223 POU2F2 POU class 2 homeobox 2 The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 19 19 19 q13.2 39392269 39436244 - 42590262 42636625 - 42086110 42132473 - 1580863;6480464 10383413;10480874;10490647;11279128;11583619;11841448;12144930;12477932;12663137;12887926;14662861;14707079;15489334;15796964;15831936;16103132;16186795;17442950;18695675;19270158;19271143;19536068;19625999;19913121;20141429;20363215;20628086;21424034;21906983;22158496;22346751;23000965;2328728;24435047;2901913;2904653;2904654;3265124;7720710;7888080;7914745;8156594;8202368;8902060;9078256;9242494;9368058;9442393;9584182;9819426;9823775;9870616 5452 B5ME60;E9PR37;H0YKT2;H0YLL6;H0YNG1;H0YNW1;M0R1I6;P09086;U3KQ96;U3KQN1;U3KQU9 AA832036;ABBA01040836;ABBA01040837;ABBA01040838;AC010247;AC022515;AC024076;AMYH02036140;AMYH02036141;AMYH02036142;BC006101;BF062323;BT007438;CB995118;CH471126;M22596;M36542;M36653;M36718;M36772;NG_030365;NM_001207025;NM_001207026;NM_001247994;NM_002698;X13809;X13810;X53468;X53469;X81030;XM_005259009;XM_005259010;XM_005259011;XM_005259012 AAA36389;AAA36390;AAA36392;AAA36732;AAA59978;AAA64232;AAH06101;AAP36106;CAA32039;CAA32040;CAA37562;CAA37563;CAA37565;CAA56933;EAW57098;EAW57099;EAW57100;EAW57101;EAW57102;EAW57103;EAW57104;EAW57105;EAW57106;EAW57107;NP_001193954;NP_001193955;NP_001234923;NP_002689;P09086;XP_005259066;XP_005259067;XP_005259068;XP_005259069 Hs.147381 1790357;1798004;1852831;2120730;2129023;2168331;2176218;5093564 A007A14;A009Q47;G10665;G32794;POU2F2;POU2F2__1992;WI-11723;WI-12372 OCT2;OTF-2;OTF2;Oct-2 OTTHUMP00000231645;OTTHUMP00000231646;OTTHUMP00000231647;OTTHUMP00000231648;OTTHUMP00000231650;POU domain, class 2, transcription factor 2;homeobox protein;lymphoid-restricted immunoglobulin octamer-binding protein NF-A2;octamer-binding protein 2;octamer-binding transcription factor 2 APPROVED protein-coding ENSG00000028277 HGNC:9213 01251 164176 REVIEWED 730819 POU3F1 POU class 3 homeobox 1 ENCODES a protein that exhibits sequence-specific DNA binding; INVOLVED IN positive regulation of gene expression (ortholog); positive regulation of transcription, DNA-templated (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid; calcitriol 1 1 1 p34.1 36788160 36791086 - 38509523 38512450 - 38043851 38046778 - 1580863;6480464 12557005;17195013;17959798;1975954;1976514;20453842;21448695;22589738;23192594;7720710;7791781;7909356;8451175;8567814;8662541;8663425;9105675;9242494;9457692;9742157 5453 Q03052;Q16423 ABBA01023248;AL139158;AMYH02000811;CH471059;L26494;NM_002699;S81257 AAA59965;AAB35991;AAI56295;EAX07298;NP_002690;Q03052 Hs.1837 2112400;2113690;5110852 D1S3677;POU3F1;RH17642 OCT6;OTF-6;OTF6;SCIP OTTHUMP00000000544;POU domain transcription factor SCIP;POU domain, class 3, transcription factor 1;octamer-binding protein 6;octamer-binding transcription factor 6 protein-coding ENSG00000185668 HGNC:9214 03921 602479 VALIDATED 732450 POU1F1 POU class 1 homeobox 1 This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p11 88061261 88078194 - 87308783 87325737 - 87259633 87276587 - 1601432;1580863;6480464;7240710;8554872;8699517 1302000 10367888;10549299;11222742;11297581;11847467;11891224;11924936;12165656;12189206;12200420;12223489;12242337;12612071;12629113;12717343;12773133;12932747;1370379;14646405;14714741;1472057;1487156;15031321;1509262;1509263;15928241;15998782;16030140;16061841;16133148;16214911;16263824;16322098;16396960;16505001;16740974;16879162;16901973;17021049;17047377;17456792;17565274;18029348;18059085;18187620;18514160;18653712;19369455;19427323;19453261;19556346;1956794;19608642;19609847;19808898;19887646;20381582;20395397;20453000;20534763;20634197;20734064;20810604;21060149;21521297;21722153;21761366;21980073;22094313;22199144;22638072;2739723;2902927;3215510;7593413;7608249;7670563;7721104;7833912;8027225;8346040;8370519;8458380;8663380;8755540;8768831;9032233;9392392;9426156;9482665;9485179;9588494;9626142;9639565;9685346;9751061 5449 H0YK06;H0YNM5;P28069 ABBA01004629;AC130885;AMYH02007210;CH471110;D10216;D11333;D11334;D12892;KF457648;L18781;NG_008225;NM_000306;NM_001122757;S73501;X62429;X72215;X77223;X77224 AAA60093;AAB31227;AAI52852;BAA01068;BAA02291;BAA34536;CAA44295;CAA51017;CAA54441;EAW68866;EAW68867;NP_000297;NP_001116229;P28069 Hs.591654 1788470;1788472;1788474;1788476;1788478;1788480;2136794;2141341;2217800 D3S3933;G67529;G67530;G67531;G67532;G67533;G67534;POU1F1__2984;RH17368 CPHD1;GHF-1;PIT1;POU1F1a;Pit-1 OTTHUMP00000213820;OTTHUMP00000213821;POU domain, class 1, transcription factor 1;growth hormone factor 1;pituitary-specific positive transcription factor 1;pituitary-specific transcription factor 1 APPROVED protein-coding ENSG00000064835 HGNC:9210 01409 173110;613038 REVIEWED 1344654 POU2F1 POU class 2 homeobox 1 The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010] 1 1 1 q24.2 140299593 140494792 + 167190066 167396582 + 167220829 167427345 + 1580863;6480464;6484113;8554872 10383413;10480874;10490647;10541551;10629049;10779377;10976766;11056176;11096094;11134019;11279128;11380252;11583619;11777930;11856838;11891224;11997177;12019209;12144930;12391146;12393188;12446597;12477932;12598320;12663137;12669425;12670868;12672812;12727885;12853155;12887915;12887926;12923055;14522952;14559893;14586402;14612514;14645506;14702039;15105429;15138251;15207707;15302935;15489334;15613485;15786443;15817654;15831936;16002402;16025120;16116232;16186125;16301215;16344560;16360016;16710414;1684878;17192276;17213819;17273778;17316622;17442950;18000219;18030470;18083338;18390905;18550719;18599544;18634911;18682386;18772384;1887216;18940312;19058140;19064610;19070619;19118657;19171782;19174780;19240061;19327156;19359385;19422935;19463811;19467240;19536175;19617623;19804407;19898263;19965638;20211142;20215511;20237496;20379614;20713004;20886065;20921968;20956498;20971815;21059098;21185600;21252943;21320718;21387309;21399967;21444690;21555551;21562485;21697476;21832049;21897860;21906983;21985966;22310390;22349263;22396547;22521726;22750226;22777240;22842522;22883199;22939629;23000965;23053895;23172665;23261988;2341156;23580612;23657650;24121026;24250222;24466753;24566898;24816145;2905684;7642649;7663141;7690421;7720710;7842742;7945330;8156594;8202368;8227066;8314572;8454622;8462099;8479524;8668525;9242494;9368058;9418884;9525610;9537509;9584182;9823775;9889203 5451 B4DYN6;P14859 ABBA01047244;ABBA01047245;ABBA01047246;ABBA01047247;ABBA01047248;ABBA01047249;AK091438;AK124826;AK302525;AK303201;AK308004;AL136984;AL359962;AL451050;AMYH02002086;AMYH02002087;AMYH02002088;AMYH02002089;AY113189;BC001664;BC003571;BC007388;BC037864;BC052274;BX954888;CH471067;DA937884;DC370634;KF455051;NM_001198783;NM_001198786;NM_002697;NR_037163;S66902;X13403 AAH01664;AAH03571;AAH07388;AAH52274;AAM77920;BAG52361;BAG63798;BAG64291;CAA31767;EAW90786;EAW90787;EAW90788;NP_001185712;NP_001185715;NP_002688;P14859 Hs.283402 1340312;1646980;1656982;1682638;1692764;1693146;1714241;1715869;1716997;1741815;1790355;2107521;2116553;2121335;2158802;5037552 AL009931;AL010018;AL034148;AL034300;D1S2630;D8S2279;GDB:185237;POU2F1;POU2F1__3243;RH119629;RH119899;RH124045;RH65089;RH68695;RH70817;STS-S94421 FLJ42836;NF-A1;OCT1;OTF-1;OTF1;oct-1;oct-1B OTTHUMP00000032348;OTTHUMP00000032349;OTTHUMP00000032350;OTTHUMP00000032351;Octamer-binding transcription factor-1;POU domain, class 2, transcription factor 1;octamer-binding protein 1;octamer-binding transcription factor 1 APPROVED protein-coding ENSG00000143190 HGNC:9212 01250 164175 VALIDATED 1351786 POU3F2 POU class 3 homeobox 2 This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012] 6 6 6 q16 99926767 99930852 + 99282580 99286666 + 98834704 98838790 + 1580863;6480464 10332029;11029584;12477932;12782656;14574404;14702039;15024079;15024080;15489334;1565620;16344560;16858508;17163992;18829533;18923447;18996486;19023125;20337985;21358674;21435193;21890473;2216722;22988297;23069940;23251661;23358112;23459443;23530560;2739723;7478537;7601453;7651733;8441633;9105675;9178889;9482665;9632656 5454 B3KTH8;P20265 ABBA01014494;ABBA01014495;AK095588;AL022395;AMYH02014179;BC051699;BQ423615;BU183021;CH471051;DA491157;L37868;NM_005604;Z11933 AAB59611;AAH51699;BAG53090;CAA77990;EAW48491;NP_005595;P20265 Hs.182505 1646043;1678195;1735622;1796538;1855316;2147247;2153041;2190783;5094634 D6S1231E;D6S2053;PMC196070P1;POU3F2;POU3F2__1213;RH12297;RH93009;WI-19206;WI-22176 BRN2;N-Oct3;OCT7;OTF-7;OTF7;POUF3;brn-2;oct-7 OTTHUMP00000016887;POU domain, class 3, transcription factor 2;brain-2;brain-specific homeobox/POU domain protein 2;nervous system-specific octamer-binding transcription factor N-Oct-3;octamer-binding protein 7;octamer-binding transcription factor 7 APPROVED protein-coding ENSG00000184486 HGNC:9215 02734 600494 REVIEWED 1323347 POU2AF1 POU class 2 associating factor 1 ENCODES a protein that exhibits DNA binding (inferred); transcription coactivator activity (inferred); transcription cofactor activity (inferred); INVOLVED IN humoral immune response (inferred); regulation of transcription, DNA-templated (inferred); transcription from RNA polymerase II promoter (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; 2-naphthylamine 11 11 11 q23.1 108376166 108403348 - 111222976 111250348 - 111352251 111379619 - 1580863;6480464 10541551;11136971;11380252;11483517;11483518;11907094;12230975;12477932;12672812;12727885;14515270;14552839;14662861;15489334;15672409;15796964;16713566;16934875;17785371;18695675;18753146;19913121;20102401;20141429;20211142;20628086;20659471;21424034;21549311;21905497;23000144;23291589;24005100;7623806;7779176;7859290;8574789;8617501;9211847;9418884;9442392;9632764;9819426 5450 AAB34937;E9PKH4;Q16633 ABBA01039821;ABBA01039822;ABBA01039823;AK313573;AMYH02025571;AP002451;BC032549;CH471065;HI574300;NM_006235;X83504;XM_005271593;XM_005271594;XM_006718859;XM_006718860;Z47550;Z49194 AAB34937;AAH32549;ABM81795;ABW03292;BAG36346;CAA58494;CAA87630;CAA89053;CBX47639;EAW67137;NP_006226;Q16633;XP_005271650;XP_005271651;XP_006718922;XP_006718923 Hs.654525 1338308;1757901;1852182;2159670 D11S1986;RH47038;SHGC-146807;STS-Z49194 BOB-1;BOB1;OBF-1;OBF1;OCA-B;OCAB B-cell-specific coactivator OBF-1;OCT-binding factor 1;OTTHUMP00000233941;POU domain class 2-associating factor 1;POU domain, class 2, associating factor 1 protein-coding ENSG00000110777 HGNC:9211 03126 601206 VALIDATED 1349087 POU3F3 POU class 3 homeobox 3 POU3F3 is a member of the class III POU family of transcription factors (see POU3F1; MIM 602479) that are expressed in the central nervous system. The POU domain in these proteins is required for high affinity binding to octamer DNA sequences (summarized by Sumiyama et al., 1996 [PubMed 8703082]).[supplied by OMIM, Jul 2010] 2 2 2 q12.1 99673184 99674686 + 105471969 105473471 + 104855511 104857013 + 1580863;6480464 16169070;16582099;20467438;23006423;24631494;2739723;8703082;9105675;9457692;9632656 5455 P20264 AB001835;ABBA01073871;AC018730;AMYH02004465;AMYH02004466;CH471127;NM_006236 AAI68366;AAX88973;BAA19459;EAX01771;NP_006227;P20264 Hs.673855 1712583;5492641 D1Mit228.1;UniSTS:481875 BRN1;OTF-8;OTF8;brn-1;oct-8 OTTHUMP00000203027;POU domain, class 3, transcription factor 3;brain-1;brain-specific homeobox/POU domain protein 1;octamer-binding protein 8;octamer-binding transcription factor 8 APPROVED protein-coding HGNC:9216 03922 602480 PROVISIONAL 732459 POU3F4 POU class 3 homeobox 4 This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012] X X X q21.1 83000650 83002156 + 82763269 82764775 + 83508261 83509767 + 1599155;1599156;1580863;6480464;7240710;8554872;8699517 7839145;9298820 12062767;15772651;16229168;19438930;19671658;19930154;20301607;20412083;20668882;21193157;21209840;21250553;21555964;22201925;22389666;22455811;23076972;23606368;7581392;7911044;8791518;9105675;9131020;9667433;9778298;9889200 5456 P49335 ABBA01041586;ABBA01041587;AK314967;AMYH02039872;CH471104;NG_009936;NM_000307;X82324;Z82170 AAI41562;AAI46552;BAG37468;CAA57767;EAW98577;NP_000298;P49335 Hs.2229 1729075;1796540;2131508;5492501;5493435 POU3F4__1217;Pou3f4;RH79170;UniSTS:481354;UniSTS:486237 BRAIN-4;BRN-4;BRN4;DFN3;DFNX2;OCT-9;OTF-9;OTF9 OTTHUMP00000023616;POU domain, class 3, transcription factor 4;brain-specific homeobox/POU domain protein 4;octamer-binding protein 9;octamer-binding transcription factor 9 APPROVED protein-coding ENSG00000196767 HGNC:9217 02076 300039;304400 REVIEWED 1351293 POU2F3 POU class 2 homeobox 3 This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 11 11 11 q23.3 117269155 117349355 + 120107349 120190653 + 120236640 120319944 + 1580863;6480464;8554872 10473598;11429405;12477932;12624109;14645924;14702039;15077167;16005513;16147992;16607278;17195013;17562024;17989732;18029348;18479461;20379614;20888799;21074976;21906983;23000965;24428937;8441607;9242494 25833 E9PIN6;H0YLC5;Q9UKI9 ABBA01039658;ABBA01039659;ABBA01039660;AF133895;AF162278;AF162715;AJ012214;AK097382;AK291993;AK302212;AMYH02025676;AP000679;AP001150;BC101649;BC143593;BC143594;BC143595;CH471065;CU451853;NG_030035;NM_001244682;NM_014352 AAD55245;AAF00199;AAI01650;ABZ92227;BAF84682;BAG63569;CAB45383;EAW67503;NP_001231611;NP_055167;Q9UKI9 Hs.227115 1765109;1782390;1796536;2120508;2121697;5015961;5022322;5037552 AFMB031WC9;D11S2560;D15S1477;D8S2279;POU2F3__1211;RH69888;SHGC-148631;SHGC-154036 Epoc-1;FLJ40063;MGC126698;OCT-11;OCT11;OTF-11;PLA-1;PLA1;Skn-1a OTTHUMP00000231987;OTTHUMP00000231988;POU domain transcription factor OCT11a;POU domain, class 2, transcription factor 3;POU transcription factor;octamer-binding protein 11;octamer-binding transcription factor 11;transcription factor PLA-1;transcription factor Skn-1 APPROVED protein-coding ENSG00000137709 HGNC:19864 09582 607394 REVIEWED 1346191 POU4F2 POU class 4 homeobox 2 The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011] 4 4 4 q31.2 144880585 144884163 + 147560045 147563623 + 146638893 146642471 + 1580863;6480464;8662965;8554872 20679336 11526481;12477932;12724837;14726699;14970234;15833836;15968082;16152597;16344560;16368877;17490655;17637757;18367606;21279488;23056278;7623109;7691107;8234287;8332509;8995448;9448000 5458 Q12837 ABBA01070050;AC093887;AK314982;AMYH02010264;BC136344;BC136345;BY796838;CH471056;DB082745;EU439706;L20434;NM_004575;U06233;X71488 AAA16509;AAA36393;AAI36345;AAI36346;ACA49233;BAG37481;CAA50589;EAX05025;NP_004566;Q12837 Hs.266 1663407;1670133;1796544;2115649 D4S3267;D4S3346;G34464;POU4F2__1221 BRN3.2;BRN3B;Brn-3b Brn3b POU domain transcription factor;OTTHUMP00000221146;POU domain class 4 transcription factor 2;POU domain protein;POU domain, class 4, transcription factor 2;brain-3B;brain-specific homeobox/POU domain protein 3B APPROVED protein-coding ENSG00000151615 HGNC:9219 00220 113725 REVIEWED 1625831 POU5F1P2 POU class 5 homeobox 1 pseudogene 2 8 8 8 q22.3 99820964 99821801 - 103633359 103634453 - 102621236 102622331 - 100129512 ABBA01037619;AMYH02018536;AP002851;NG_022400 1856975;2142980 A006S39;SGC30492 pseudo ENSG00000253382 HGNC:33309 INFERRED 1321371 POU4F3 POU class 4 homeobox 3 This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009] 5 5 5 q32 141798516 141800012 + 145718587 145720083 + 146339024 146340520 + 1599168;1580863;6480464;7240710;8554872;8699517 9506947 12209986;12477932;14585957;15465029;15489334;17611044;18029348;18228599;18347256;19372648;19462854;20054994;20301607;20434433;24260153;24275721;7623109;8637595 5459 Q15319 ABBA01026340;AC011396;AF044575;AMYH02012407;BC104923;BC112207;CH471062;NG_011885;NM_002700;U10060;U10061 AAA57160;AAC06203;AAI04924;AAI12208;ABZ92178;ADR82930;EAW61843;EAW61844;EAW61845;EAW61846;NP_002691;Q15319 Hs.553499 5492499;5492941;5494063 Pou4f3;UniSTS:481349;UniSTS:483311 BRN3C;DFNA15;MGC138412;brn-3C OTTHUMP00000160092;POU domain, class 4, transcription factor 3;brain-3C;brain-specific homeobox/POU domain protein 3C APPROVED protein-coding ENSG00000091010 HGNC:9220 03911 602459;602460 REVIEWED 1625830 POU5F1P5 POU class 5 homeobox 1 pseudogene 5 10 10 10 q21.3 63044571 63045507 - 69769704 69770640 - 68009947 68010877 - 100009667 ABBA01019554;AL356741;AMYH02023246;NG_006104 Oct4-pg5 pseudo HGNC:33311 INFERRED 1346307 POU4F1 POU class 4 homeobox 1 This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012] 13 13 13 q31.1 60071661 60076129 - 79173227 79177695 - 78599092 78603560 - 1580863;6480464;8662965 20679336 12427558;12432261;12441296;12477932;12810599;12893201;12911730;12934100;1357630;15021903;15272315;16247485;16276351;17239249;20348952;20376082;21116278;21928122;22064348;22930747;23666755;7623109;8234287;8248179;8889548;8941380;8995448;9448000 5457 Q01851 ABBA01021680;ABBA01021681;AL445209;AMYH02028330;AMYH02028331;BM714015;BM726529;CH471093;L20433;N74107;NM_006237;U10063;X64624 AAA57161;AAA65605;AAI48331;AAI48793;CAA45907;EAW80584;EAW80585;NP_006228;Q01851 Hs.654522 1336717;1656503;1670890;1776985;1791782;1796542;2175385;5492123;7185347;7186121 AFM185XA3;D13S160;PMC125354P1;POU4F1__1219;Pou4f1;RH17633;RH70862;SHGC-35779 BRN3A;FLJ13449;Oct-T1;RDC-1;brn-3A OTTHUMP00000018535;POU domain, class 4, transcription factor 1;brain-3A;brain-specific homeobox/POU domain protein 3A;homeobox/POU domain protein RDC-1 APPROVED protein-coding ENSG00000152192 HGNC:9218 03379 601632 REVIEWED 1625829 POU5F1P6 POU class 5 homeobox 1 pseudogene 6 3 3 3 q21.3 126825445 126827409 - 128393489 128395453 - 128674646 128676610 - 100009668 ABBA01020906;ABBA01020907;AC079945;AMYH02007625;NG_006105 pseudo HGNC:33312 INFERRED 1346950 POU5F1B POU class 5 homeobox 1B This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009] 8 8 8 q24.21 124607887 124609485 + 128427131 128429455 + 127415612 127417210 + 6480464 11780052;1408763;16201836;16229821;17401363;17401366;17618283;17618284;18372901;18946985;18949397;19562729;20017164;20062064;20158306;22041458;23064289;23933063;24292274;24338422 5462 Q06416 ABBA01037942;AC016883;AF268615;AF268618;AMYH02018756;DQ120688;DQ486513;FM177969;FM177970;FM177971;FM177972;FM177973;FM177974;FM177975;FM177976;FM177977;FM177978;FM177979;FM177980;FM177981;FM177982;GU480835;GU480840;GU480841;GU480842;GU480845;GU480864;GU480868;GU480878;GU480880;GU480883;GU480886;GU480889;GU480896;GU480902;GU480905;GU480906;GU480908;GU480911;GU480912;GU480913;HQ122710;HQ122711;HQ122712;HQ122713;HQ122714;HQ122716;HQ122717;HQ122718;HQ122719;HQ122721;HQ122749;HQ122750;HQ122751;HQ122752;HQ122781;HQ122782;HQ122783;HQ122784;HQ122785;HQ122786;HQ122787;HQ122788;HQ122789;HQ122790;HQ122816;HQ122817;HQ122818;HQ122819;HQ122820;HQ122821;HQ122822;HQ122823;HQ122824;HQ122825;HQ122826;HQ122827;HQ122841;HQ122842;HQ122843;HQ122844;HQ122845;HQ122846;HQ122848;HQ122849;HQ122851;HQ122852;HQ122853;HQ122854;HQ122855;HQ122856;HQ122857;HQ122864;HQ122865;HQ122866;HQ122867;HQ122868;HQ122869;HQ122870;HQ122871;HQ122874;HQ122876;HQ122877;HQ122878;HQ122879;HQ122880;HQ122881;HQ122882;HQ122883;HQ122884;HQ122885;HQ122886;HQ122887;HQ122891;HQ122892;HQ122893;HQ122895;HQ122898;HQ122900;HQ122902;HQ122903;NM_001159542;Z11901 AAG53083;AAG53085;ABB92462;ABF29403;ADE48561;ADE48566;ADE48567;ADE48568;ADE48570;ADE48580;ADE48583;ADE48591;ADE48593;ADE48596;ADE48597;ADE48599;ADE48604;ADE48606;ADE48609;ADE48610;ADE48612;ADE48614;ADE48615;ADE48616;ADW77351;ADW77352;ADW77353;ADW77354;ADW77355;ADW77356;ADW77357;ADW77358;ADW77359;ADW77360;ADW77385;ADW77386;ADW77387;ADW77388;ADW77415;ADW77416;ADW77417;ADW77418;ADW77419;ADW77420;ADW77421;ADW77422;ADW77423;ADW77424;ADW77444;ADW77445;ADW77446;ADW77447;ADW77448;ADW77449;ADW77450;ADW77451;ADW77452;ADW77453;ADW77454;ADW77455;ADW77467;ADW77468;ADW77469;ADW77470;ADW77471;ADW77472;ADW77473;ADW77474;ADW77475;ADW77476;ADW77477;ADW77478;ADW77479;ADW77480;ADW77481;ADW77487;ADW77488;ADW77489;ADW77490;ADW77491;ADW77492;ADW77493;ADW77494;ADW77495;ADW77496;ADW77497;ADW77498;ADW77499;ADW77500;ADW77501;ADW77502;ADW77503;ADW77504;ADW77505;ADW77506;ADW77507;ADW77511;ADW77512;ADW77513;ADW77514;ADW77515;ADW77516;ADW77517;ADW77518;CAA77953;NP_001153014;Q06416 Hs.450254 1657819 RH77966 OCT4-pg1;OCT4PG1;OTF3C;OTF3P1;POU5F1P1;POU5F1P4;POU5FLC20;POU5FLC8 POU 5 domain protein;POU class 5 homeobox 1 pseudogene 1;POU domain transcription factor OCT4-pg1;POU domain transcription factor Oct-4;POU domain, class 5, transcription factor 1 pseudogene 1;octamer binding protein 3_like sequence;octamer-binding protein 3-like;octamer-binding transcription factor 3-like;putative POU domain, class 5, transcription factor 1B APPROVED protein-coding HGNC:9223 615739 VALIDATED 1343632 POU5F1P3 POU class 5 homeobox 1 pseudogene 3 INTERACTS WITH all-trans-retinoic acid; valproic acid 12 12 12 p13.31 9863427 9864510 - 8286365 8287448 - 8133769 8134852 - 6480464 16229821;17245123;23933063;7908264;8500351 642559 ABBA01012236;AC092111;AF268617;AMYH02025988;GU480832;GU480837;GU480838;GU480843;GU480846;GU480847;GU480876;GU480877;GU480887;GU480888;GU480891;GU480892;GU480893;GU480897;GU480901;GU480903;GU480907;GU480909;GU480915;HQ122722;HQ122723;HQ122724;HQ122725;HQ122726;HQ122727;HQ122728;HQ122729;HQ122730;HQ122753;HQ122754;HQ122755;HQ122791;HQ122792;HQ122793;HQ122794;HQ122795;HQ122796;HQ122797;HQ122828;HQ122829;HQ122831;NR_036440;Z21964 AAG53084;ADE48563;ADE48564;ADE48569;ADE48571;ADE48572;ADE48590;ADE48598;ADE48600;ADE48601;ADE48605;ADE48607;ADE48611;ADE48613;ADE48617;ADW77361;ADW77362;ADW77363;ADW77364;ADW77365;ADW77366;ADW77367;ADW77368;ADW77369;ADW77389;ADW77390;ADW77391;ADW77425;ADW77426;ADW77427;ADW77428;ADW77429;ADW77430;ADW77431;ADW77456;ADW77457;ADW77459;CAA79975 Hs.646545 OTF3L;POU5F1L;POU5FLC12 pou domain, class 5, transcription factor 1-like pseudo ENSG00000235602 HGNC:9222 VALIDATED 1625828 POU5F1P7 POU class 5 homeobox 1 pseudogene 7 3 3 q12.1 97838117 97838819 + 98119273 98119975 + 100009669 ABBA01026938;AC117460;AMYH02007285;NG_006106 pseudo HGNC:33313 INFERRED 1606459 POU5F2 POU domain class 5, transcription factor 2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; disodium selenite; (S)-nicotine (ortholog) 5 5 5 q15 88936192 88937486 - 93076015 93077309 - 93740309 93741603 - 6480464;8554872 12477932;14702039;15489334;7908264 134187 Q8N7G0 ABBA01069281;AC108102;AK098546;AMYH02011804;BC029532;BX641019;CH471084;NM_153216;Z21965 AAH29532;ABZ92379;BAC05328;CAA79976;CAE46012;EAW96016;NP_694948;Q8N7G0 Hs.678995 2152859;5015861;5037552;7185938 D10S16;D8S2279;STS-Z21965 DKFZp686P02123;FLJ25680;SPRM-1 POU domain, class 5, transcription factor 2;sperm 1 POU domain transcription factor protein-coding ENSG00000248483 HGNC:26367 08695 PROVISIONAL 5686918 POU6F2-AS1 POU6F2 antisense RNA 1 7 7 p14.1 39444197 39445945 - 39404598 39406346 - 100861520 ABBA01058140;AC005483;AI807878;AMYH02015560;BX113391;HG500197;NR_046711 Hs.571292 APPROVED ncrna ENSG00000224122 HGNC:40979 VALIDATED 1322006 POU6F2 POU class 6 homeobox 2 This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 7 7 7 p14.1 39005468 39491972 + 39017609 39504390 + 38978009 39464791 + 1580863;7240710;8554872 11183772;11284034;12853948;15459955;16217254;17164647;18029348;20201926;20379614;20663923;23382691;8601806 11281 C9JSC0;H0YK27;H0YKR5;H0YL15;H7C2B2;P78424 ABBA01056931;ABBA01056932;ABBA01056933;ABBA01058139;ABBA01058140;AC005483;AC011292;AC073345;AC092174;AK309700;AMYH02015559;AMYH02015560;CH236951;CH471073;DN991890;KF458439;KF458441;KF458446;KF511031;NG_016022;NM_001166018;NM_007252;U91934;U91935 AAB49727;AAB49728;AAC83404;AAI52916;AAP21873;AAS07475;EAL23992;EAW94116;EAW94117;NP_001159490;NP_009183;P78424 Hs.137106 1334833;1335961;1336797;1705348;1706290;1711882;1720449;1724323;1772439;1786300;1786314;1790575;2130203;2131253;2135412;2138803;2160492;2164883;2175401;2176143;2185210;2219542;7186139;7187391;7187399 D1S2817;D7S1602;D7S1966;D7S2176;D7S2360;D7S3053;D7S510;D7S555;G49550;G59177;GDB:1317344;GDB:1318096;GDB:1318649;GDB:4585608;HSC206_(7Gr39mb);POU6F2__5750;RH119083;RH71269;SHGC-153865;SHGC-154765;SHGC-80702;SHGC-83526 RPF-1;WT5;WTSL OTTHUMP00000198531;OTTHUMP00000198532;POU domain, class 6, transcription factor 2;Wilms tumor suppressor locus;retina-derived POU domain factor 1;retina-derived POU-domain factor-1 APPROVED protein-coding ENSG00000106536 HGNC:21694 10162 601583;609062 REVIEWED 1352455 PP1P pyrophosphatase (inorganic) 1 pseudogene 3 3 3 p24.3 17851337 17852621 - 17912909 17914193 - 17871417 17872701 - 151842 ABBA01025117;AC104297;AC132807;AMYH02006353;NG_002639 pseudo HGNC:28884 INFERRED 1625853 POU5F1P4 POU class 5 homeobox 1 pseudogene 4 INTERACTS WITH all-trans-retinoic acid; cytarabine; trichostatin A 1 1 1 q22 128476134 128477216 + 155402971 155404053 + 155433180 155434262 + 6480464 16229821;17280643;23615404;23933063;7908264 645682 ABBA01016703;AF268613;AL139410;AMYH02001946;DQ851566;FM178001;FM178002;FM178003;FM178004;FM178005;FM178006;FM178007;FM178008;FM178009;FM178010;FM178011;FM178012;GU480814;GU480831;GU480833;GU480834;GU480836;GU480839;GU480848;GU480852;GU480854;GU480857;GU480858;GU480859;GU480862;GU480863;GU480866;GU480867;GU480869;GU480870;GU480871;GU480872;GU480873;GU480875;GU480879;GU480881;GU480882;GU480894;GU480895;GU480904;HQ122834;HQ122836;HQ122837;HQ122839;HQ122840;HQ122858;HQ122859;HQ122860;HQ122861;HQ122862;HQ122914;NR_034180;Z21963 AAG53082;ADE48560;ADE48562;ADE48565;ADE48573;ADE48574;ADE48575;ADE48576;ADE48577;ADE48578;ADE48579;ADE48581;ADE48582;ADE48584;ADE48585;ADE48586;ADE48587;ADE48588;ADE48589;ADE48592;ADE48594;ADE48595;ADE48602;ADE48603;ADE48608;ADW77462;ADW77463;ADW77464;ADW77465;ADW77466;ADW77482;ADW77483;ADW77484;ADW77485;ADW77486;ADW77526;CAA79974 Hs.632482 Oct4-pg4;POU5FLC1 pseudo ENSG00000237872 HGNC:33310 VALIDATED 1604736 PP2D1 protein phosphatase 2C-like domain containing 1 ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH C60 fullerene (ortholog) 3 3 3 p24.3 19961983 19994294 - 20021453 20053765 - 19979961 20012374 - 6480464;8554872 12477932;21832049 151649 A8MPX8;Q2M2Y9 ABBA01025091;ABBA01025092;ABBA01025093;AC097635;AK058178;AMYH02006363;BC021717;BC105097;BC105099;BI463522;BI463551;CH471055;NM_001252657;NR_027694;XM_006712988;XM_006712989 A8MPX8;AAI05098;AAI05100;BAB71705;EAW64304;NP_001239586;XP_006713051;XP_006713052 Hs.733161 1664635;1680256;1735316;1739819;1740791;1796638;1849398 D11S4361;D3S2948E;D3S3483E;HSC13E052;RAB5A_779;RH91784;SHGC-76753 C3orf48;FLJ25449 protein phosphatase 2C-like domain-containing protein 1 APPROVED protein-coding ENSG00000183977 HGNC:28406 08066 VALIDATED 1352864 PPA1 pyrophosphatase (inorganic) 1 The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [provided by RefSeq, Jul 2008] 10 10 10 q11.1-q24 65241716 65272852 - 71962586 71993667 - 70202830 70233434 - 1303939;1580863;6480464;6907045 10542310 10576771;10733883;10931946;12477932;15164054;15489334;16130169;16169070;16186112;16236267;16583711;17008050;17494625;19135240;19738201;20206270;21139048;21317537;21514157;21890473;21906983;21963094;22053931;22268729;22797819;22939629;23000965;23402259;23718219;24250222;25027693;4130389;6022858;6118133;6120771;6146563;656444;975879 5464 Q15181;Q5SQT6;V9HWB5 AB026723;ABBA01019620;ABBA01019621;AF092439;AF108211;AF119665;AF154065;AF217186;AK058193;AK127102;AL731540;AMYH02023283;AMYH02023284;AMYH02023285;AY295767;BC001022;BC061581;BC105034;BC105036;BC107882;BU520836;CH471083;EU794626;NM_021129 AAD24964;AAD34643;AAF17222;AAG36780;AAH01022;AAH61581;AAI05035;AAI05037;AAI07883;AAP97214;ABM84523;ACJ13680;BAA84702;EAW54383;EAW54384;EAW54385;EAW54386;NP_066952;Q15181 Hs.437403 1768137;5015619 A002R09;D11S3114 HEL-S-66p;MGC111556;PP;PP1;SID6-8061 IOPPP;OTTHUMP00000019741;PPase;cytosolic inorganic pyrophosphatase;diphosphate phosphohydrolase;epididymis secretory sperm binding protein Li 66p;inorganic diphosphatase;inorganic pyrophosphatase;inorganic pyrophosphatase 1;pyrophosphatase (inorganic);pyrophosphatase 1;pyrophosphate phospho-hydrolase APPROVED protein-coding ENSG00000180817 HGNC:9226 01527 179030 REVIEWED 1604365 PPA2 pyrophosphatase (inorganic) 2 The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 4 4 4 q25 103589454 103694416 - 106290234 106395227 - 105369077 105474070 - 6480464;6907045 11042152;11076863;11230166;12477932;12665801;14702039;15146197;15210126;15489334;15489336;16300924;16341674;16381901;18781797;19067239;20332099;20379614;20877624;21103663;21139048;22658931;23241943;23824909;24654937;25027693;6120771 27068 B4DFH3;D6R967;D6RAD3;D6RGI1;D6RGV9;F8W7R6;H0Y8X2;H0Y9D8;H0YAK2;Q9H2U2 AB026722;ABBA01063733;ABBA01063734;AC004066;AC106888;AF161473;AF217187;AI419577;AK000466;AK289607;AK294097;AK299125;AL136655;AMYH02009847;AMYH02009848;AW953776;BC008246;BC012903;BC022803;BC035569;BC039462;BC057219;BG705183;BM840112;BM848099;CH471057;CN423093;KF457801;NM_006903;NM_176866;NM_176867;NM_176869 AAF29088;AAG36781;AAH22803;AAH39462;AAH57219;AAY41040;ACE86426;ACE87101;BAA84701;BAA91184;BAF82296;BAG57434;BAG61178;CAB66590;CAL38123;CAL38360;CAL38629;CAL38669;CAL38671;EAX06180;EAX06181;EAX06182;EAX06183;EAX06184;NP_008834;NP_789842;NP_789843;NP_789845;Q9H2U2 Hs.654957 1338403;1644216;1648612;1654367;1699272;2145542;2183925;5015861;5095844;7185938 D10S16;D4S3026;RH103218;SHGC-23091;SHGC-25100;SHGC-51692;SHGC-59817;SHGC-67245;SHGC-67401 FLJ20459;HSPC124;MGC49850;SID6-306 OTTHUMP00000158985;OTTHUMP00000158986;OTTHUMP00000218511;OTTHUMP00000218513;OTTHUMP00000218514;OTTHUMP00000218520;PPase 2;inorganic pyrophosphatase 2, mitochondrial;pyrophosphatase SID6-306;pyrophosphate phospho-hydrolase 2 APPROVED protein-coding ENSG00000138777 HGNC:28883 18494 609988 REVIEWED 731653 POU6F1 POU class 6 homeobox 1 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN brain development (inferred); heart development (inferred); muscle organ development (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; lead(0) 12 12 12 q13.13 50382323 50412965 - 51580719 51611477 - 51186936 51217693 - 1580863;6480464 12477932;1408763;14702039;15489334;16344560;18029348;18323601;18976975;19450691;19874398;20134265;7908264;8102789;8567814;8889548 5463 F8VSI9;Q14863 ABBA01031603;ABBA01031604;ABBA01031605;ABBA01031606;AC139768;AI417271;AK095191;AL832881;AMYH02026482;AMYH02026483;AW445212;BC051326;BC074765;BC107090;BM703234;CH471111;CK002954;DA026332;DA084199;KF573645;L14482;NM_002702;NR_026893;Z21966 AAH51326;AAH74765;AAI07091;ABZ92179;BAG53003;CAA79977;EAW58179;EAW58180;NP_002693;Q14863 Hs.555886 1659701;1675963;1716893;2128881;2134197;2151207;5015961;5116954 D12S1904;D15S1477;RH121739;RH65190;RH80422;STS-Z21966;WI-19201;ha2176 BRN5;MPOU;TCFB1 OTTHUMP00000241714;OTTHUMP00000241715;POU domain, class 6, transcription factor 1;brain-5;brain-specific homeobox/POU domain protein 5;brn-5;mPOU homeobox protein protein-coding HGNC:9224 17883 VALIDATED 6480347 POU6F2-AS2 POU6F2 antisense RNA 2 7 7 p14.1 39019495 39053167 - 38979895 39013567 - 14702039 100689074 ABBA01056931;AC011292;AK023033;AMYH02015559;HG500196;XR_242164;XR_250175;XR_252204 Hs.675876 AC011292.2 APPROVED ncrna HGNC:21887 MODEL 1642403 PPAN-P2RY11 PPAN-P2RY11 readthrough This locus represents naturally occurring read-through transcription between the adjacent PPAN and P2RY11 genes. Alternative splicing results in two transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This transcript is found to be ubiquitously expressed and is up-regulated by agents inducing granulocytic differentiation. However, its functional significance in vivo remains unclear. [provided by RefSeq, Nov 2010] 19 19 19 p13 10112562 10120905 + 10216899 10226065 + 10106223 10115389 + 6480464 11278528;12077223;12477932;20967262;21890473;22174317;22505724;23000965;23128233;24457600;9405388 692312 Q9NQ55 ABBA01029947;AC020931;AF030335;AJ300588;AMYH02035484;AX001017;BC171852;CH471106;NM_001040664;NM_001198690 AAB88674;AAI67833;CAB77112;CAC18877;EAW84076;NP_001035754;NP_001185619 Hs.14468 1739175;5014053 D13S1132;D1S3693 OTTHUMP00000196506;OTTHUMP00000196509;OTTHUMP00000210485;PPAN-P2RY11 readthrough transcript;SSF1/P2Y11 protein APPROVED protein-coding ENSG00000243207 HGNC:33526 VALIDATED 1344834 PPAP2A phosphatidic acid phosphatase type 2A The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in synthesis of glycerolipids and in phospholipase D-mediated signal transduction. This enzyme is an integral membrane glycoprotein that plays a role in the hydrolysis and uptake of lipids from extracellular space. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 5 5 5 q11 51673499 51784986 - 54720670 54830906 - 55424842 55535078 - 6480464;6907045;8554872 10087003;10358934;10962286;12426308;12444089;12471011;12477932;12909631;14506139;14702039;15146197;15489334;16950767;17005594;17079146;17169329;17207965;18755152;19056867;20379614;21139048;21988832;22939629;23426360;23936490;9305923;9468526;9570154;9607309;9705349 8611 D6REC3;O14494 AB000888;ABBA01015739;ABBA01015740;ABBA01015741;ABBA01015742;ABBA01015743;AC010480;AC025777;AF014402;AF014403;AF017116;AK124204;AMYH02011311;AMYH02011312;AMYH02011313;AMYH02011314;BC008787;BC039847;BC117133;BC143281;BC168254;BI761588;BQ019387;CH471123;CN338068;HY063640;JA738741;JA738743;NM_003711;NM_176895;NR_103485;XM_006714724 AAC16032;AAC16033;AAC32041;AAH39847;AAI17134;AAI43282;ADQ33024;BAA22593;CCF77023;CCF77024;EAW54920;EAW54921;EAW54922;EAW54923;NP_003702;NP_795714;O14494;XP_006714787 Hs.696231 2175710;2184899;5015961;5022322 D11S2560;D15S1477;D5S2546;WI-15758 LLP1a;LPP1;PAP-2a;PAP2;PAP2-alpha;PAP2a;PAP2a2;PAP2alpha2;PAPalpha1 OTTHUMP00000221662;OTTHUMP00000221663;lipid phosphate phosphohydrolase 1;lipid phosphate phosphohydrolase 1a;phosphatidate phosphohydrolase type 2a;phosphatidic acid phosphatase 2a;phosphatidic acid phosphohydrolase type 2a;type 2 phosphatidic acid phosphohydrolase;type-2 phosphatidic acid phosphatase alpha APPROVED protein-coding ENSG00000067113 HGNC:9228 06178 607124 REVIEWED 1314882 PPAN peter pan homolog (Drosophila) The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010] 19 19 19 p13 10112456 10117466 + 10216899 10221975 + 10106223 10111299 + 1580863;6480464 10359593;10873382;10944437;11278528;11790298;12077223;12429849;12477932;12777385;15302935;15489334;16565220;16964243;17081983;17353931;18029348;18051367;19615732;21145461;21282530;21832049;21890473;22113938;22174317;22505724;23000965;23752268;24250222;24778252;24816145;9405388 56342 A8MV53;C9J3W3;C9JHF7;H7C446;Q9NQ55 ABBA01029947;AC020931;AJ292529;AMYH02035484;AW298633;BC000535;BC009833;BC033202;CH471106;NM_020230 AAH00535;AAH09833;AAH33202;ADZ15410;CAB99252;EAW84075;NP_064615;Q9NQ55 Hs.14468 BXDC3;MGC14226;MGC45852;SSF;SSF-1;SSF1;SSF2 OTTHUMP00000196505;OTTHUMP00000196506;OTTHUMP00000196509;OTTHUMP00000210485;brix domain-containing protein 3;homolog of S. cerevisiae SSF1;second-step splicing factor 1;suppressor of SWI4 1 homolog;suppressor of sterile four 1 APPROVED protein-coding ENSG00000130810 HGNC:9227 08478 607793 VALIDATED 1606068 PPAPDC2 phosphatidic acid phosphatase type 2 domain containing 2 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; coumestrol; ethyl methanesulfonate 9 9 9 p24.1 4584804 4587764 + 4662294 4665274 + 4662294 4665274 + 6480464 12477932;14702039;15164053;15489334;16344560;16464866;17081983;19220020;20110354;21139048;23568778 403313 Q8IY26 ABBA01065420;AK074672;AK128369;AK296773;AL136231;AMYH02019076;BC036833;BC038108;BU632000;CH471071;DA416947;NM_203453 AAH38108;BAG54667;BAG59352;EAW58785;NP_982278;Q8IY26 Hs.107510;Hs.741406 5107469 STS-AA026012 FLJ46512;FLJ90191;MGC15483;PDP1;PSDP;bA6J24.6 OTTHUMP00000021003;PPAP2 domain-containing protein 2;phosphatidic acid phosphatase type 2 domain-containing protein 2;polyisoprenoid diphosphate phosphatase type 1;presqualene diphosphate phosphatase protein-coding ENSG00000205808 HGNC:23682 17397 611666 VALIDATED 1351368 PPAPDC1A phosphatidic acid phosphatase type 2 domain containing 1A ENCODES a protein that exhibits phosphatidate phosphatase activity; INVOLVED IN phospholipid dephosphorylation; ASSOCIATED WITH Breast Neoplasms; FOUND IN integral component of membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH all-trans-retinoic acid; methyl methanesulfonate; trichostatin A 10 10 10 q26.12 115947750 116080667 + 122216466 122349367 + 120456954 120589855 + 2314524;6480464;8554872 16818692 12477932;17590538;20379614;23535033 196051 B7Z3R3;Q5VZY2;X6R787 ABBA01062874;ABBA01062875;ABBA01062876;ABBA01062877;ABBA01062878;AC023282;AC073587;AK098668;AK296273;AK310178;AL157782;AMYH02023924;AMYH02023925;BC101267;BC101268;BC101269;BC122535;BC132787;BD418666;BI550027;CH471066;CR739184;DR000933;NM_001030059;XM_005269592;XM_006717685;XM_006717686;XM_006717687;XM_006717688 AAI01268;AAI01269;AAI01270;AAI22536;AAI32788;ADR82924;BAH12299;EAW49368;EAW49369;NP_001025230;Q5VZY2;XP_005269649;XP_006717748;XP_006717749;XP_006717750;XP_006717751 Hs.40479 1339110;1341250;1651017;1655037;1666480;1722749;1726693;1755971;1756581;1763789;2178248;2219546;7187815 D10S1757;D10S209;G60313;G62583;PPAPDC1__5754;RH44621;SHGC-142790;SHGC-143619;SHGC-147463;SHGC-35172;U64670;U64671 DPPL2;MGC120299;MGC120300;PPAPDC1 OTTHUMP00000020618;OTTHUMP00000020619;diacylglycerol pyrophosphate like 2;phosphatidate phosphatase PPAPDC1A;phosphatidic acid phosphatase type 2 domain-containing protein 1A protein-coding ENSG00000203805 HGNC:23531 18745 VALIDATED 1607002 PPAPDC1B phosphatidic acid phosphatase type 2 domain containing 1B ENCODES a protein that exhibits phosphatidate phosphatase activity; INVOLVED IN phospholipid dephosphorylation; FOUND IN cytoplasm (inferred); integral component of membrane (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; arsenite(3-); benzo[a]pyrene diol epoxide I 8 8 8 p11.23 37073700 37079790 - 38119035 38126841 - 38261517 38269323 - 6480464 12477932;16261160;17207965;17590538;18757432;21219541;21531764;24051013 84513 E9PNB1;H0YCK0;H0YCQ3;H0YDY2;Q8NEB5 AA761242;ABBA01023539;AC087362;AF212238;AK292118;AMYH02017827;BC033025;BC106014;BD418664;BE856962;BQ272061;CH471080;DB458595;NM_001102559;NM_001102560;NM_032483;XM_005273661;XM_005273663 AAH33025;AAI06015;AAK14924;ADQ31845;BAF84807;EAW63325;EAW63326;EAW63327;EAW63328;EAW63329;NP_001096029;NP_001096030;NP_115872;Q8NEB5;XP_005273718;XP_005273720 Hs.567619 1647150;1722309;1777712;2120533;2166008;2167355;5037552 A006U16;A008W47;D8S2279;G60070;RH18404;RH35840;WIAF-1693 DPPL1;HTPAP OTTHUMP00000228419;OTTHUMP00000228420;OTTHUMP00000228421;OTTHUMP00000228422;OTTHUMP00000228423;OTTHUMP00000228444;diacylglycerol pyrophosphate like 1;phosphatidate phosphatase PPAPDC1B;phosphatidic acid phosphatase type 2 domain-containing protein 1B protein-coding ENSG00000147535 HGNC:25026 13720 610626 VALIDATED 1350605 POU5F1 POU class 5 homeobox 1 This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013] 6 6 6 p21.31 32732336 32738691 - 31132114 31138451 - 31164337 31170693 - 2292442;1580863;2292435;2292433;2292428;2292429;2292432;2292431;2292434;2292443;6480464;6484113;8554872 15371950;15386301;17205510;17413979;17549357;17785371;17996359;18045648;18162782 10742100;11096094;11099378;11689681;11891324;12477932;12653732;12727846;12841847;12923055;1408763;15047715;15105401;15342930;15467907;15513931;15615706;15625129;15695770;15729702;15749924;15790780;15917470;16149048;16153702;16229821;16421218;16557044;16582099;16702430;16892178;16916925;16951404;17011492;17013377;17068183;17093407;17136117;17211834;17226773;1723621;17245123;17273778;17314032;17314394;17379765;17390031;17409736;17506876;17525163;17554336;17573914;17682839;17761754;17923501;17959850;17982423;18000303;18029452;18032701;18088417;18157115;18191611;18199879;18231740;18254969;18269588;18281244;18295396;18338169;18339675;18366076;18388306;18439155;18440631;18467432;18593985;18594515;18612434;18617685;18676852;18687992;18710938;18757296;18765667;18787205;18806776;18810488;18818365;18946985;18957414;18985733;19023518;19058139;19060217;19102659;19103427;19126554;19170206;19171782;19203577;19224167;19224238;19271143;19274063;19274762;19327014;19347886;19350677;19383152;19394308;19396148;19409607;19414369;19438894;19445899;19458492;19483629;19489092;19528230;19536159;19549847;19559696;19657699;19696409;19718018;19736317;19751112;19777066;19816951;19851445;19884257;19898493;19966271;19968627;19969351;20027182;20034424;20038322;20051954;20054811;20074550;20101213;20103622;20123703;20139178;20171362;20173672;20203285;20224565;20224970;20230781;20333750;20347080;20356403;20379614;20404147;20412569;20412747;20433421;20458727;20462980;20477760;20497257;20505756;20505821;20508149;20510497;20526341;20587610;20594032;20647538;20662612;20698766;20721963;20736927;20805580;20818602;20824712;20858707;20879854;20881960;20937145;20942235;20953172;20958186;20981110;21048921;21107090;21135096;21151097;21151833;21159654;21166886;21227461;21262915;21273125;21301344;21365617;21376027;21394007;21403679;21419292;21477851;21479367;21480394;21496429;21533858;21547540;21559451;21602143;21602158;21631526;21674242;21684074;21692598;21725800;21798248;21801394;21804543;21844352;21852325;21868340;21900452;21912425;21938739;21946204;21947321;21951846;21960344;21962512;21987575;22014056;22037460;22160855;22207173;22247013;22252524;22286766;22300949;22301499;22311737;22340650;22363145;22378186;22387393;22392999;22393366;22396540;22429998;22446105;22448662;22474382;22482508;22506928;22528324;22576801;22588915;22613719;22727933;22743827;22777760;22795133;22824146;22832160;22844522;22847005;22901285;22903480;22914767;22922943;22944295;23000165;23002208;23024368;23041284;23052207;23076549;23088399;23136034;23185410;23211052;23213213;23255053;23276226;23279472;23290742;23302226;23307247;23314702;23340171;23349823;23391989;23433354;23438193;23499384;23525564;23539445;23541921;23545524;23549118;23588367;23594289;23601300;23609451;23613252;23613880;23615404;23636800;23643069;23670345;23736381;23828673;23872274;23887079;23917144;23921511;23928699;23932306;23933063;23955597;23984394;24070213;24073944;24145198;24182453;24324071;24336974;24386189;24387977;24427323;24457968;24475251;24481450;24532469;24581739;24607276;24627557;24971534;7908264;8088794;8500351;8567814;8889549;9368058;9814708 5460 D2IYK3;F2Z381;M1S623;Q01860;U3KQH6 AA205411;AB088113;AB103619;AB202105;ABBA01038069;AI811039;AL662833;AL662844;AL773544;AM851115;AM851116;AM851117;AM851118;AM851119;AM851120;AM851121;AM851122;AM851123;AM851124;AM851125;AM851126;AMYH02013445;BA000025;BC020712;BC069246;BC117435;BC117437;BQ278003;BX088580;CD247724;CH471081;CR388229;CR759815;CR847794;DQ486514;DQ486515;DQ486516;DQ486517;EU518650;FM177951;FM177952;FM177953;FM177954;FM177955;FM177956;FM177957;FM177958;FM177959;FM177960;FM177961;FM177962;FM177963;FM177964;FM177965;FM177968;GU480808;GU480809;GU480810;GU480811;GU480812;GU480813;GU480815;GU480816;GU480817;GU480818;GU480819;GU480820;GU480821;GU480822;GU480823;GU480824;GU480825;GU480826;GU480827;GU480828;GU480829;GU480830;HQ122658;HQ122659;HQ122660;HQ122661;HQ122662;HQ122663;HQ122664;HQ122665;HQ122666;HQ122667;HQ122668;HQ122669;HQ122670;HQ122671;HQ122672;HQ122673;HQ122674;HQ122675;NM_001173531;NM_001285986;NM_001285987;NM_002701;NM_203289;S81255;Z11898;Z11899 AAB35990;AAI17436;AAI17438;ACD14148;ADE48539;ADE48540;ADE48541;ADE48542;ADE48543;ADE48544;ADE48545;ADE48546;ADE48547;ADE48548;ADE48549;ADE48550;ADE48551;ADE48552;ADE48553;ADE48554;ADE48555;ADE48556;ADE48557;ADE48558;ADE48559;ADR82975;ADR83327;ADW77313;ADW77314;ADW77315;ADW77316;ADW77317;ADW77318;ADW77319;ADW77320;ADW77321;ADW77322;ADW77323;ADW77324;ADW77325;ADW77326;ADW77327;BAB63311;BAC54946;BAE78630;BAF31281;CAA77951;CAA77952;CAO99189;CAO99190;CAO99191;CAO99192;CAO99193;CAO99194;CAO99195;CAO99196;CAO99197;CAO99198;CAO99199;CAO99200;CAQ76268;CAQ76269;CAQ76270;CAQ76271;CAQ76272;CAQ76273;CAQ76274;CAQ76275;CAQ76276;CAQ76277;CAQ76278;CAQ76279;CAQ76280;CAQ76281;CAQ76282;CAQ76285;EAX03366;EAX03367;EAX03368;NP_001167002;NP_001272915;NP_001272916;NP_002692;NP_976034;Q01860 Hs.249184 1742115;1742117;1742119;2137171;2217802;5015861;5024039;5037552;7185938 D10S16;D16S325;D8S2279;GDB:191805;GDB:191806;GDB:191807;POU5F1_3066;SHGC-12693 MGC22487;OCT3;OCT4;OTF-3;OTF3;OTF4;Oct-3;Oct-4 OTTHUMP00000029292;OTTHUMP00000221150;OTTHUMP00000221151;OTTHUMP00000239665;POU domain transcription factor OCT4;POU domain, class 5, transcription factor 1;POU-type homeodomain-containing DNA-binding protein;octamer-binding protein 3;octamer-binding protein 4;octamer-binding transcription factor 3;octamer-binding transcription factor-3 APPROVED protein-coding ENSG00000204531 HGNC:9221 01252 164177 REVIEWED 734254 PPAP2C phosphatidic acid phosphatase type 2C The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is similar to phosphatidic acid phosphatase type 2A (PPAP2A) and type 2B (PPAP2B). All three proteins contain 6 transmembrane regions, and a consensus N-glycosylation site. This protein has been shown to possess membrane associated PAP activity. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 19 19 19 p13 520837 531227 + 281040 291435 - 281040 291435 - 1580863;6480464;6907045 10992322;12471011;12477932;15489334;16169070;16467304;18215144;21139048;21963094;21988832;8889548;9570154;9607309;9705349 8612 K7EMK9;K7ENH4;O43688 AA428937;AB209696;ABBA01002551;AC016588;AF035959;AF047760;AF056083;AMYH02035102;BC002806;BE615792;BG831889;BM050291;BM982485;BT007021;CH471242;HY160303;NM_003712;NM_177526;NM_177543 AAC15968;AAC25666;AAC32104;AAH02806;AAP35667;BAD92933;EAW61207;EAW61208;EAW61209;NP_003703;NP_803545;NP_808211;O43688 Hs.465506 2110665;2118225;2160673;5015619;5015879;5015961;5016478;5017266;5020414;5020946;5020948;5021369;5022200;5022463;5022578;5024272;5024761;5037552;5118718 D11S3114;D11S3590;D15S1477;D19S676E;D1S1423;D2S1254;D3S1673;D8S2279;G35510;GDB:314949;GDB:434012;L17688;L17796;L17971;L18426;L18506;PPAP2C_8838;RH11852;RH36905 LPP2;PAP-2c;PAP2-g;PAP2-gamma;PAP2c lipid phosphate phosphohydrolase 2;phosphatidate phosphohydrolase type 2c;phosphatidic acid phosphatase 2c;phosphatidic acid phosphohydrolase type 2c;type-2 phosphatidic acid phosphatase-gamma APPROVED protein-coding ENSG00000141934 HGNC:9230 06180 607126 REVIEWED 1314085 PPAPDC3 phosphatidic acid phosphatase type 2 domain containing 3 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); negative regulation of myotube differentiation (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); nuclear envelope (inferred); INTERACTS WITH 2-methylcholine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dibutyl phthalate (ortholog) 9 9 9 q34.13 104704143 104723704 + 134165069 134184649 + 131289682 131309262 + 737633;6480464 12477932 12958361;14702039;15164053;15489334;16303743;19704009 84814 Q8NBV4;X6R886 ABBA01012085;AK027568;AK075207;AK315502;AL354855;AMYH02021785;AMYH02021786;BC006362;CH471090;CQ783303;NM_032728;XM_005272230;XM_005272231 AAH06362;BAB55204;BAC11472;BAG37886;CAF86515;EAW87966;EAW87967;NP_116117;Q8NBV4;XP_005272287;XP_005272288 Hs.134292 2139443;2175910 A008J42;RH41777 C9orf67;FLJ14662;KIAA0515;MGC12921;NET39 OTTHUMP00000022398;phosphatidic acid phosphatase type 2 domain-containing protein 3;probable lipid phosphate phosphatase PPAPDC3 protein-coding ENSG00000160539 HGNC:28174 12972 VALIDATED 1603230 PPARAL peroxisome proliferator-activated receptor alpha-like p12-p11.2 9027492 5466 U72041 Hs.585799 protein-coding HGNC:9233 1350671 PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 5 q32 145191258 145315947 + 149109815 149234585 + 149730252 149855022 + 1580863;1642499;1642500;1642501;6480464;6484531;7240710;8554872 15863669;16759305;16896940;20647557 10585775;10713165;11733490;11793024;11854298;12032643;12107756;12181319;12470660;12477932;12551939;12565902;12678921;12832613;14702039;15546003;16132959;16459311;16704985;17018837;17341490;17554339;17579828;17631495;17690194;18660489;18974884;19065516;19297390;19340012;19491097;19653005;19913121;20058823;20211142;20237496;20416077;20453000;20477822;20561910;20628086;20677014;20682687;20889127;21054343;21269472;21364124;21458501;21692888;21862727;22533417;22777349;22890011;22939990;22969086;23201126;23251661;23264620;23637848;23680128;23866026;23877360;24359475 133522 B7ZM40;H0Y713;Q86YN6 ABBA01026296;ABBA01026297;AC008545;AC022100;AF468496;AF468497;AK024346;AK095391;AK123614;AK123715;AMYH02012449;AMYH02012450;AMYH02012451;AY188947;AY188948;AY188949;AY188950;BC026956;BC132971;BC132973;BC144251;BX648997;CA435617;CH471062;NG_016747;NM_001172698;NM_001172699;NM_133263;XM_005268372 AAH26956;AAI32972;AAI32974;AAI44252;AAL78633;AAL78634;AAO40022;AAO40023;AAO40024;AAO40025;BAC04541;BAG53922;EAW61759;EAW61760;EAW61761;EAW61762;EAW61763;NP_001166169;NP_001166170;NP_573570;Q86YN6;XP_005268429 Hs.483816 1658054;1707820;1730261;1780578;2144166;2155760;7184683 A189WF1;D5S1907;D5S442E;L28290;SHGC-82137;bac51268T DKFZp686C1790;ERRL1;FLJ14284;PERC;PGC-1(beta);PGC1B OTTHUMP00000160530;OTTHUMP00000198104;OTTHUMP00000198105;OTTHUMP00000198106;OTTHUMP00000198107;PGC-1-related estrogen receptor alpha coactivator;PPAR-gamma coactivator 1-beta;PPARGC-1-beta;peroxisome proliferative activated receptor, gamma, coactivator 1, beta;peroxisome proliferator-activated receptor gamma coactivator 1-beta APPROVED protein-coding ENSG00000155846 HGNC:30022 10594 601665;608886 REVIEWED 1604845 PPAP2B phosphatidic acid phosphatase type 2B The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. [provided by RefSeq, Mar 2010] 1 1 1 p32.2 55245253 55330133 - 56960419 57045257 - 56494747 56579584 - 6480464;6907045 10564277;10739957;12471011;12477932;12660161;12856002;14725715;15489334;16099422;16147992;16344560;17005594;17555747;18215144;19913121;20123964;20628086;21139048;21378988;21378990;21569306;21832049;21846871;21906983;21963094;21987572;22837378;23508853;24262325;25015289;8619474;8889548;9110174;9305923;9705349 8613 O14495 AB000889;ABBA01074681;AC099562;AC099789;AF017786;AF043329;AF480883;AK312439;AMYH02001076;AMYH02001077;BC009196;BM471786;BM719257;BQ027458;BT019589;BU608248;BU616092;CH471059;DA580891;KF510203;NM_003713;U79294 AAB50222;AAC63433;AAD02271;AAH09196;AAO84481;AAV38396;ABM84447;ABM86870;BAA22594;BAG35348;EAX06651;EAX06652;EAX06653;NP_003704;O14495 Hs.405156;Hs.619002 1644648;1672885;1684094;1686528;1712098;1854496;2129347;2161422;2163669;2171433;2172640;5017502 A002U15;D1S1566;D1S2089;D1S2091;G13351;G54098;PPAP2B;RH91798;RH93360;SHGC-56634;SHGC-74867;SHGC-74887 Dri42;LPP3;MGC15306;PAP-2b;PAP2-b;PAP2-beta;PAP2B;VCIP OTTHUMP00000009855;PAP2 beta;lipid phosphate phosphohydrolase 3;phosphatidate phosphohydrolase type 2b;type-2 phosphatidic acid phosphatase-beta;vascular endothelial growth factor and type I collagen inducible APPROVED protein-coding ENSG00000162407 HGNC:9229 06179 607125 REVIEWED 1348767 PPATP1 phosphoribosyl pyrophosphate amidotransferase pseudogene 1 3 3 3 p12.1 87853491 87855034 - 87100345 87101888 - 87051195 87052738 - 8106516 100289640 ABBA01004628;AC108709;AMYH02007209;NG_022210 1680503 RH70521 pseudo HGNC:9239 INFERRED 733613 PPAT phosphoribosyl pyrophosphate amidotransferase The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011] 4 4 4 q12 54765911 54808216 - 57259528 57301802 - 56393362 56435636 - 1580863;5135035;5135488;5135016;5135050;6480464;6907045 20005278;2451505;476627;6327016 10593947;10597272;12477932;15489334;1574589;16196087;16344560;21139048;21890473;21906983;21963094;21988832;22505724;22678362;22863883;22939629;23184937;23275563;23891004;24250222;752480;8106516;8125298;8380692;9108165 5471 A8K4H7;D6RCC8;D6RE15;Q06203;Q59G63 AB209246;ABBA01003424;ABBA01003425;AC068620;AK222759;AK290942;AK312297;AMYH02009256;BC004200;CH471057;D13757;DB039655;NM_002703;U00238;U00239 AAC27345;AAH04200;ABM84410;ABM87409;BAA02903;BAD92483;BAD96479;BAF83631;BAG35224;EAX05487;EAX05488;NP_002694;Q06203 Hs.331420 1680503;1858321;2131044;2184564 D4S3143;RH70521;STS-U00239;WI-20631 GPAT;PRAT ATASE;OTTHUMP00000159062;amidophosphoribosyltransferase;glutamine PRPP amidotransferase;glutamine phosphoribosylpyrophosphatate amidotransferase;glutamine phosphoribosylpyrophosphate amidotransferase APPROVED protein-coding ENSG00000128059 HGNC:9238 01402 172450 REVIEWED 7246747 PPATP2 phosphoribosyl pyrophosphate amidotransferase pseudogene 2 X X X 78195512 78196015 - 77954881 77955384 - 78699384 78699887 - 100421601 ABBA01030128;AL662885;AMYH02039830;NG_026724 pseudo HGNC:48738 INFERRED 1342674 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008] 4 4 4 p15.1 24243466 24341439 - 23793644 24474394 - 23792021 24091635 - 1580863;2311391;6480464;6484262;6484260;6484532;6484263;6484266;6484267;6484271;6484530;6484270;6484259;6484257;6484531;6484526;6484261;6484264;6484265;6484269;6484527;6484113;6907045;7241821;7241823;7241824;7241837;7241838;7241840;7241841;7241843;7241844;7241845;7241846;7241847;7241848;7241849;7241851;7241854;7242009;7242011;7242012;7242013;7242015;7242016;7242017;7242018;7242019;7242020;7242023;7242025;7242026;7242027;7242032;7242043;7242044;7242045;7242046;7242049;7242051;7242061;7242065;7242067;7242170;7242175;7242179;7242180;7242183;7242188;7242192;5686899;7242024;7421504;7242181;8554872 12606537;17018277;18162502;18270681;19158402;19273754;19542201;19900151;20566666;20647557;20732852;21373642;21376232;21595954;21651979;21784126;21784897;21881206;22003111;22040668;22076434;22087236;22102466;22105890;22126533;22208735;22246294;22392034;22401878;22503866;22510382;22521344;22540007;22561641;22589246;22642418;22648295;22658649;22684233;22824914;22874759;22892143;22922125;22996345;23144332;23147503;23150719;23152488;23166610;23174781;23180161;23210442;23250358;23251491;23256146;23269818;23271280;23272147;23274094;23297372;23320128;23335958;23342071;23348010;23406886;23416000;23449621;23499865;23533487 10412986;10558993;10585775;10643692;10669761;10713165;10748020;10983978;11158005;11340167;11551810;11557984;11714715;11733490;11741533;11751919;11788685;11793024;11854298;11875072;11916956;11943463;12011097;12032643;12107756;12181319;12181572;12189208;12397057;12470296;12470660;12477932;12502716;12522104;12563009;12565902;12574109;1258810;12588810;12606503;12611894;12832613;12866036;12972445;14522988;14574455;14633846;14636573;14652494;14670614;14744933;14978033;15026545;15111488;15111510;15146371;15254719;15322103;15329387;15337744;15572376;15572661;15581067;15582274;15592662;15599700;15604093;15649578;15705733;15716268;15738346;15744310;15782399;15784253;15821111;15824463;15826954;15864539;15908514;15912394;15937669;15964996;16051671;16086291;16122961;16123152;16132959;16147992;16150865;16216916;16241916;16341842;16395669;16403952;16435105;16443502;16446747;16474966;16488887;16494845;16600233;16631115;16704985;16752166;16753578;16804087;16857725;16882880;16891307;16891621;16896940;16902166;16929032;16978372;16978381;17018837;17032743;17050673;17108241;17150186;17187763;17216277;17241533;17284167;17290397;17322100;17327385;17327880;17342473;17355643;17372612;17374560;17390150;17418099;17457313;17468099;17479445;17490458;17502589;17579564;17630210;17636037;17646210;17680531;17701054;17828388;17907962;17926914;17971240;17999673;18067759;18160712;18198341;18242180;18331997;18370824;18385139;18438697;18441008;18451773;18467552;18469005;18501443;18552123;18563384;18565194;18588668;18614852;18653753;18660489;18673300;18674809;18689799;18719883;18786524;18798693;18801770;18823672;18923559;18950845;18974883;18996470;19038972;19056482;19061896;19065516;19070258;19077249;19102936;19103600;19112161;19118529;19142226;19148128;19171140;19179292;19183932;19200361;19233136;19237423;19265027;19297390;19322023;19371772;19389810;19420105;19422651;19422653;19435887;19446346;19451226;19453261;19460884;19536736;19553684;19567523;19578796;19625249;19631645;19651776;19653005;19666693;19680556;19681917;19723495;19793803;19793822;19828207;19846556;19861117;19876004;19884383;19903700;19913121;19913841;19948975;19961051;19965780;20032281;20044476;20045142;20067526;20106991;20125101;20130411;20133449;20139785;20178833;20200320;20211864;20308248;20368732;20371735;20383327;20384434;20401754;20426853;20437825;20448046;20453000;20468064;20477822;20492333;20498286;20512451;20531298;20551328;20628086;20638986;20647061;20661474;20670916;20677014;20679960;20682687;20713359;20716531;20733583;20816721;20851810;20884884;20890895;20926756;20931535;20944660;20952631;21187426;21215313;21244673;21294239;21358044;21447778;21451146;21467224;21486805;21687738;21733854;21757867;21862727;21862870;21880746;21883960;21894159;21914785;21918181;21988832;21994947;22009745;22016516;22049338;22052997;22064484;22094256;22099309;22106445;22113536;22122487;22155889;22194199;22212273;22247001;22266114;22267390;22285815;22310107;22333269;22340220;22589185;22652814;22732512;22825315;22861165;22939990;22969086;22974658;23050972;23073717;23086295;23175776;23178651;23201126;23217713;23277535;23285255;23312803;23354620;23400010;23426382;23438722;23438894;23477830;23505498;23602251;23648480;23669350;23788330;23836911;23913178;23918034;23943793;23951207;23954821;23956138;23964012;24204994;24237962;24262291;24297698;24371122;24383721;24398293;24402435;24403067;24430439;24444220;24457025;24503013;24529027;24622795;24654751;24776744;24928019;24995979;9529258 10891 D6RBF3;Q9UBK2 AB061325;ABBA01032676;ABBA01032677;AC006229;AC092834;AC108071;AF106698;AF108205;AF159714;AF186379;AK024990;AK296591;AK301883;AK309261;AMYH02008892;AMYH02008893;AMYH02008894;BC029800;CH471069;EU280319;HQ695733;JQ772116;JQ772117;JQ772118;JQ772119;JQ772120;KF457749;KF457751;NG_028250;NM_013261;XM_005248130;XM_005248131;XM_005248132;XM_005248134 AAD51615;AAD56250;AAF18573;AAF19083;AAI56324;AAI57069;AAY41058;ABX44665;ADW77180;AFK29753;AFK29754;AFK29755;AFK29756;AFK29757;BAE46508;BAH12392;BAH13576;EAW92811;EAW92812;NP_037393;Q9UBK2;XP_005248187;XP_005248188;XP_005248189;XP_005248191 Hs.527078 1683369;2113564;2190941;2219548;5094866 MARC_11849-11850:1029349088:1;MARC_49176-49177:1118326844:1;PPARGC1A;PPARGC1A__5755;RH93032 LEM6;PGC-1(alpha);PGC-1v;PGC1;PGC1A;PPARGC1 L-PGC-1alpha;OTTHUMP00000123372;PGC-1-alpha;PPAR gamma coactivator variant form;PPAR gamma coactivator-1;PPAR-gamma coactivator 1-alpha;PPARGC-1-alpha;ligand effect modulator 6;ligand effect modulator-6;peroxisome proliferative activated receptor, gamma, coactivator 1, alpha;peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4;peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4-3ext;peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4-8a;peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B5;peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B5-NT;peroxisome proliferator-activated receptor gamma coactivator 1-alpha 1643453;2314831 BW99_H;INSUL23_H APPROVED protein-coding ENSG00000109819 HGNC:9237 05155 604517 REVIEWED 737309 PPARA peroxisome proliferator-activated receptor alpha Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008] 22 22 22 q13.31 30453877 30547038 + 46546458 46639653 + 46150562 46243756 + 1580222;1580228;1580229;1580230;1580231;1580226;1580863;2313779;2313778;5509936;5509938;5509941;5509939;5509942;5509944;5509940;5509943;5683635;5563035;5683642;1624238;5683636;5562037;5683621;5683626;5562819;5561899;5508455;6480464;5561928;5683625;6907045;7240710;8554872 10828087;11119019;11864924;12006394;12938026;15382117;15685545;15964663;15967866;16043164;16875506;17047518;17459894;17850927;17888025;18549840;18562561;19317897;19322024;19472040;19763017;20650341;20671072;21253492;21262334;21305343;21929649;22089192 10022764;10187842;10195690;10336495;10377439;10403814;10542237;10591208;10669761;10681503;10731636;10786636;10860941;10862523;10872826;10903152;11226238;11337467;11375929;11409711;11466580;11587644;11668221;11698662;11733490;11818483;11840500;11845213;11852057;11891224;11897617;11897821;11914252;11915042;11923467;11934839;11940516;11980898;11981036;12023905;12039952;12042669;12048138;12055195;12118000;12118038;12161442;12163133;12189208;12203367;12208475;12395215;12408750;12468272;12477932;12482853;12544508;12554753;12562861;12594295;12594814;12615366;12655356;12700342;12709436;12745064;12810707;12835617;12847522;12855749;12897377;12914524;12932225;12955147;12962497;14515181;14519597;14523052;14633846;14641801;14671555;14677049;14702039;14730379;14764586;14999402;15001458;15001550;15051727;15067378;15083308;15111510;15128052;15131257;15196699;15199365;15221005;15231516;15258199;15309680;15318936;15456881;15461802;15497675;15500444;15521013;15539630;15549499;15608561;15615782;15642120;15677519;15699244;15699916;15735069;15759454;15797250;15811118;15870285;15888456;15935279;15940190;16042408;16162941;16169070;16189514;16221474;16226051;16239970;16271724;16275545;16285997;16288935;16288986;16297361;16309557;16377806;16416313;16492688;16506057;16511589;16554032;16630553;16637234;16652134;16763159;16806233;16822823;16847426;16956579;17001213;17008383;17084382;17129741;17150915;17181634;17184146;17195188;17200111;17244467;17272748;17300045;17317762;17331954;17342071;17355223;17356846;17363697;17363837;17431031;17436029;17492134;17608096;17616429;17646210;17655842;17700210;17705849;17926914;17951966;17962186;17963696;17991667;17998026;18003597;18004978;18061194;18172578;18182682;18184928;18219093;18245819;18255343;18268046;18292238;18313368;18336366;18388689;18394939;18398047;18440986;18518955;18541586;18586686;18652775;18660489;18680716;18710415;18713766;18725353;18726867;18727927;18786524;18787507;18797151;18848838;18853997;18855529;18955051;18977277;18981151;18996102;19070893;19114110;19115207;19118026;19119483;19141539;19157507;19208777;19217440;19223982;19254215;19255064;19263263;19279199;19356714;19357976;19362162;19367093;19386311;19420105;19422369;19422653;19433068;19451226;19453261;19458633;19527689;19560472;19628794;19653005;19660836;19681917;19706994;19710929;19733654;19748481;19776627;19780876;19782026;19789836;19822141;19823578;19828088;19878569;19887568;19913121;19937854;19948841;19948975;19955185;20016041;20044476;20045185;20070029;20178979;20214982;20238044;20346360;20379614;20384434;20385772;20399568;20400503;20414453;20421589;20426853;20450745;20452482;20466884;20485444;20496064;20602615;20620111;20628086;20638986;20647061;20653996;20656057;20673868;20679960;20682687;20800603;20810571;20811626;20825652;20838448;20855565;20862655;21030426;21125992;21159535;21245137;21282101;21291392;21304969;21326871;21430558;21443859;21487230;21540177;21562928;21785974;21967852;21988832;21990353;22040870;22065208;22068265;22092351;22168458;22205725;22215653;22266374;22315317;22336959;22349506;22378291;22435679;22479552;22510778;22547144;22647601;22649490;22654113;22685582;22920733;22932900;22940187;22944052;22983821;22989886;23076161;23141142;23144166;23158661;23160450;23208589;23262340;23295386;23329136;23372804;23455924;23476056;23502212;23522297;23567058;23583468;23645771;23657974;23666678;23707408;23711995;23736812;23797899;23811234;23814018;23821302;23891824;23919842;23930676;23951092;24068329;24097068;24113216;24122873;24138287;24140347;24169559;24232815;24309288;24315978;24368768;24444220;24460649;24657893;24713062;24829353;24875102;24876382;24928010;7684926;7981125;8621574;8910358;8993548;9113987;9238002;9407140;9610365;9626662;9627117;9653119;9748221;9748239;9792666;9795230;9915808 5465 B0QYX1;B0QYX2;F1D8S4;Q07869 AB073605;AB307690;ABBA01010439;ABBA01010440;ABBA01010441;ABBA01010442;ABBA01010443;AF018254;AF086231;AF270490;AK024738;AK027101;AK091885;AK289821;AK311946;AL049856;AL078611;AMYH02038533;AMYH02038534;AMYH02038535;AU099251;AU104848;AX522244;AY206718;AY258326;AY258327;AY258328;AY258329;AY258330;AY258331;BC000052;BC004162;BC009069;BC071932;BQ024839;CH471138;CR456547;CR457435;DQ867023;EU395809;EU650667;FP325332;HI519550;HQ692862;L02932;NG_012204;NM_001001928;NM_005036;S74349;XM_005261653;XM_005261655;XM_005261656;XM_005261657;XM_006724269;XM_006724270;XM_006724271;Y07619;Y16186;Z94161 AAA36468;AAB32649;AAO13489;AAO89521;AAO89522;AAO89523;AAO89524;AAO89525;AAO89526;ABI52417;ABY73535;ACD12656;ADZ17373;BAF82510;BAG34887;BAH02281;CAA68898;CAA76112;CAD55571;CAG30433;CAG33716;CAI22450;CAK54578;CAK54877;CAQ09265;CAQ09266;CAQ09267;CBX54356;EAW73402;EAW73403;EAW73404;NP_001001928;NP_005027;Q07869;XP_005261710;XP_005261712;XP_005261713;XP_005261714;XP_006724332;XP_006724333;XP_006724334 Hs.103110;Hs.710044 1671225;1681241;1687814;1768830;1853966;1853968;1854835;2111964;2122982;2131566;2165538;2217804;5016851;5037552;5093406 A005R09;A009O07;Cda02e06;D22S1562;D22S1586;D8S2279;G20431;G32699;PPARA_2988;RH27889;RH45682;RH80031;SHGC-32144;WI-11293;WI-17171 MGC2237;MGC2452;NR1C1;PPAR;PPARalpha;hPPAR OTTHUMP00000197740;OTTHUMP00000197741;PPAR-alpha;nuclear receptor subfamily 1 group C member 1;peroxisome proliferative activated receptor, alpha;peroxisome proliferator activated receptor alpha;peroxisome proliferator-activated nuclear receptor alpha variant 3 APPROVED protein-coding ENSG00000186951 HGNC:9232 01369 170998 REVIEWED 1347875 PPBPP1 pro-platelet basic protein pseudogene 1 INTERACTS WITH progesterone 4 4 4 q13.3 72073668 72074935 + 74713503 74714770 + 73847786 73849053 + 6480464 12297130;1316786;15115243;17700216;18797178 728045 ABBA01022993;AC092438;AC108029;AMYH02009471;NG_016721 PPBPL1;TGB2 APPROVED pseudo HGNC:9241 188035 INFERRED 1345126 PPBPP2 pro-platelet basic protein pseudogene 2 INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one 4 4 4 q13.3 72279845 72281206 - 74919755 74921116 - 74054038 74055399 - 1580863;6480464 12477932;15489334;15815621;7887923 10895 ABBA01022994;AC097709;AMYH02009474;BC132938;BC132940;L10403;NR_026769 AAA68277;AAY41007 Hs.3134 1670015;1774225;2156807 G29828;SHGC-67405;STS-L10403 PPBPL2;SPBPBP APPROVED pseudo ENSG00000248848 HGNC:16981 611591 VALIDATED 736390 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells. [provided by RefSeq, May 2010] 4 4 4 q12-q13 72212305 72214056 - 74852156 74853907 - 73986439 73988190 - 1625598;1580863;6480464;8554872 14730686 10049766;10343098;10419831;10764593;10877842;11167759;11468158;12193731;12297130;12477932;12665801;12878486;1316786;1387511;1427896;14673015;15115243;15174051;15316029;15340161;15489334;15815621;16169070;16317101;16344560;16391012;16712791;16806233;16807663;17045893;17192395;17220270;17700216;17703412;18240029;1826003;1830861;1837963;18577758;18632422;18707017;1873479;18797178;19258923;19913121;2007144;20224257;20237496;20503287;20510637;20628086;21442287;21900206;21988832;22101183;22740477;22916037;22939812;23052484;23619231;2406364;2423119;2522778;2713489;2783111;2834384;2966071;4005226;426909;47244;6183294;6572368;7706245;77677;7890771;8034022;8051099;8195702;8580362;8702798;8950790;9725262;9794434 5473 AAB46877;P02775 ABBA01022994;AC097709;AF349466;AK312166;AMYH02009472;BC028217;BQ447470;BX443846;CB112845;CH471057;CR456805;DA419455;M54995;NM_002704 AAA62836;AAB46877;AAH28217;AAK29642;AAY41004;ABM81946;ABM85126;BAG35100;CAG33086;EAX05695;NP_002695;P02775 Hs.2164 1647539;1690968;5125362 SHGC-12412;SHGC-50812;SHGC4-129 B-TG1;Beta-TG;CTAP-III;CTAP3;CTAPIII;CXCL7;LA-PF4;LDGF;MDGF;NAP-2;PBP;SCAR10;SCYB7;TC1;TC2;TGB;TGB1;THBGB;THBGB1 C-X-C motif chemokine 7;CXC chemokine ligand 7;OTTHUMP00000160477;beta-thromboglobulin;connective tissue-activating peptide III;leukocyte-derived growth factor;low-affinity platelet factor IV;macrophage-derived growth factor;neutrophil-activating peptide 2;neutrophil-activating peptide-2;platelet basic protein;pro-platelet basic protein;small inducible cytokine B7;small inducible cytokine subfamily B, member 7;small-inducible cytokine B7;thrombocidin 1;thrombocidin 2;thromboglobulin, beta-1 APPROVED protein-coding HGNC:9240 07171 121010 REVIEWED 1605355 PPCDC phosphopantothenoylcysteine decarboxylase Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008] 15 15 15 q24.2 52266900 52294041 + 75315927 75343067 + 75023586 75050726 + 6480464;6907045 11923312;12477932;12975309;14501115;14702039;15489334;15581364;16169070;21490707;23720494;24816145 60490 H3BPW5;H3BQB0;H3BRQ0;H3BSE3;H3BU34;H3BU63;Q96CD2 ABBA01060512;AC015720;AF182419;AK027491;AMYH02030807;AMYH02030808;AY358848;BC005877;BC014409;BF243417;BG744258;BI833814;BI907452;BM555704;BU500301;CH471136;DB488540;DW437029;NM_001301101;NM_001301102;NM_001301103;NM_001301104;NM_001301105;NM_021823;NR_125369;XM_005254579;XM_006720630;XM_006720631 AAG14955;AAH14409;AAQ89207;ABM83135;ABM86331;BAB55151;EAW99275;EAW99276;NP_001288030;NP_001288031;NP_001288032;NP_001288033;NP_001288034;NP_068595;Q96CD2;XP_005254636;XP_006720693;XP_006720694 Hs.458922 1697056;2191603;2219920 MARC_27456-27457:1034793104:3;MDS018__6300;RH102007 FLJ14585;MDS018;PPC-DC;coaC OTTHUMP00000183485 APPROVED protein-coding ENSG00000138621 HGNC:28107 14377 609854 VALIDATED 6481352 PPEF1-AS1 PPEF1 antisense RNA 1 p22.13 8889548 100874004 BM683329;BM929366;HG512455;NR_046642;Z94056 APPROVED ncrna HGNC:40463 VALIDATED 1606579 PPEF1 protein phosphatase, EF-hand calcium binding domain 1 This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq, Jul 2008] X X X p22 22829137 22966124 + 18704257 18846039 + 18686138 18827921 + 6480464 10617768;11713293;12051765;12477932;12665801;14759258;15489334;15772651;22292511;9215685;9326663;9430683 5475 B7Z6R7;C9JY08;F8WC69;H7C592;O14829 ABBA01071672;ABBA01071673;ABBA01071674;ABBA01071675;ABBA01071676;ABBA01071677;ABBA01071678;ABBA01071679;ABBA01071680;ABBA01071681;ABBA01071682;ABBA01071683;ABBA01071684;ABBA01071685;ABBA01071686;ABBA01071687;ABBA01071688;ABBA01071689;ABBA01071690;ABBA01071691;ABBA01071692;AF023455;AF027977;AK290463;AK292235;AK295504;AK300815;AK315809;AL096700;AMYH02038954;AMYH02038955;BC036026;CH471074;KF459012;KF459013;KF459014;KF459015;KF459016;KF459017;KF459018;KF459020;KF510664;NG_012519;NM_006240;NM_152224;NM_152226;X97867;XM_005274553;XM_005274554;XM_006724500;Z94056 AAB82795;AAC05825;AAH36026;ACE86649;ACE87331;BAF83152;BAF84924;BAF98700;BAH12089;BAH13353;CAA66461;EAW98943;EAW98944;EAW98945;EAW98946;EAW98947;EAW98948;EAW98949;NP_006231;NP_689410;NP_689412;O14829;XP_005274610;XP_005274611;XP_006724563 Hs.211589 1335057;1702640;2123154;2219550;7186042 DXS7765;DXS8001;DXS999;PPEF1__5756 PP7;PPEF;PPP7C;PPP7CA OTTHUMP00000023005;protein phosphatase 7, catalytic subunit, alpha isozyme;protein phosphatase with EF calcium-binding domain;protein phosphatase, serine/threonine type, with EF-hands;serine/threonine protein phosphatase 7;serine/threonine-protein phosphatase 7;serine/threonine-protein phosphatase with EF-hands 1 APPROVED protein-coding ENSG00000086717 HGNC:9243 02118 300109 REVIEWED 736289 PPARD peroxisome proliferator-activated receptor delta This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. PPARs are nuclear hormone receptors that bind peroxisome proliferators and control the size and number of peroxisomes produced by cells. PPARs mediate a variety of biological processes, and may be involved in the development of several chronic diseases, including diabetes, obesity, atherosclerosis, and cancer. This protein is a potent inhibitor of ligand-induced transcription activity of PPAR alpha and PPAR gamma. It may function as an integrator of transcription repression and nuclear receptor signaling. The expression of this gene is found to be elevated in colorectal cancer cells. The elevated expression can be repressed by adenomatosis polyposis coli (APC), a tumor suppressor protein related to APC/beta-catenin signaling pathway. Knockout studies in mice suggested the role of this protein in myelination of the corpus callosum, lipid metabolism, and epidermal cell proliferation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] 6 6 6 p21.2 36864336 36949951 + 35310335 35395968 + 35342558 35428191 + 1580681;633661;1625186;1580863;2313780;2313781;2324872;2324875;2324876;2324871;2324886;2324897;6480464;6907045;8554872 12600885;14676330;14988273;16804087;17461989;17652168;18497548;18573863;19818749;19997057;20058304 10198642;10555149;10567538;10839530;10851270;10866668;10872826;10991946;11226285;11551955;11847022;11867749;11980898;12009300;12477932;12594814;12615676;12909723;12934104;12943985;12955147;12962497;12970571;1333051;14574404;14641801;14702039;14758356;15001550;15102088;15128052;15146197;15192438;15231748;15489334;15591138;15604093;15604518;15615782;15790807;15793256;15803109;15811118;15888456;15890193;15979543;16053787;16091736;16141797;16285997;16306381;16344560;16344721;16361076;16368717;16387648;16476973;16511591;16645156;16652134;16752430;16806233;16897074;16906219;16930961;16953259;16966336;16979821;17068288;17116180;17119917;17148604;17178883;17254750;17259439;17272748;17294733;17303142;17303761;17322100;17324937;17327385;17355643;17356846;17409576;17431579;17436029;17618585;17669420;17693664;17705821;17724132;17803688;17855759;17926914;18024853;18037904;18048767;18182682;18240567;18252792;18288282;18305567;18337509;18379566;18388689;18438697;18511850;18566335;18606951;18625220;18627005;18636547;18657264;18660489;18676870;18701481;18720000;18793612;18797151;18797401;18937948;19056929;19064572;19074989;19157507;19201410;19208777;19279199;19283612;19303973;19307598;19383774;19395102;19429679;19435887;19453261;19461048;19512923;19527689;19538467;19578796;19615407;19628794;19653005;19666693;19681917;19723884;19756148;19805479;19818126;19838202;19863319;19878569;19903700;19913121;19935699;19948841;19948975;19951549;19953087;20044476;20045185;20160399;20195266;20200337;20221637;20238044;20308079;20379614;20416077;20424164;20453000;20485444;20512451;20592029;20595396;20621019;20624891;20628086;20645257;20647061;20811626;20824502;20840271;20844743;20855565;21070867;21176135;21283829;21331343;21352808;21400612;21426320;21487230;21496113;21520069;21531809;21696362;21750705;21765467;21834910;21896929;21967852;21998595;22021335;22072715;22192471;22209682;22247001;22277050;22310107;22509365;22606221;22683888;22939624;22944052;22945906;23023367;23049921;23056264;23086933;23137000;23208498;23262340;23284291;23323702;23455924;23512374;23525285;23545576;23598720;23607100;23639976;23646170;23811234;23832539;23842279;23907334;23991827;24060638;24107399;24391853;24508264;24898257;24987006;7876127;8812511;8910358;9113987;9647638 5467 F1D8S7;Q03181 AB099507;AB307691;ABBA01038227;ABBA01038228;ABBA01038229;ABBA01038230;ABBA01038231;ABBA01038232;AF246303;AK122614;AK291661;AK296425;AK304482;AK304878;AL022721;AMYH02013537;AMYH02013538;AMYH02013539;AMYH02013540;AMYH02013541;AX522248;AY442342;AY919140;AY927506;BC002715;BC007578;BC127809;BE503383;BQ441091;CH471081;CN332566;DA192442;DA476590;HI519540;HQ692865;KF458139;L07592;NG_012345;NM_001171818;NM_001171819;NM_001171820;NM_006238;NM_177435;XM_005249193;XM_005249194;XM_006715120;XM_006715121;XM_006715122;XM_006715123 AAA36469;AAF62553;AAH02715;AAH07578;AAR05439;AAX14041;ADZ17376;BAC78903;BAF84350;BAG53624;BAG65293;BAG65615;BAH02282;BAH12347;CAD55573;CBX54351;EAX03825;EAX03826;EAX03827;EAX03828;NP_001165289;NP_001165290;NP_001165291;NP_006229;NP_803184;Q03181;XP_005249250;XP_005249251;XP_006715183;XP_006715184;XP_006715185;XP_006715186 Hs.696032 1706190;1713249;1723593;1792130;1794630;1853371;2171615;5015619;5037552;5492104;5492106;7187005 AL031219;D11S3114;D6S1611;D8S2279;MARC_45796-45797:1102976080:1;MARC_45802-45803:1103063697:1;PMC137182P9;PMC33205P2;RH120615;RH123251;SHGC-80622;STS-L07592 FAAR;MGC3931;NR1C2;NUC1;NUCI;NUCII;PPAR-beta;PPAR-delta;PPARB OTTHUMP00000016256;OTTHUMP00000016257;nuclear hormone receptor 1;nuclear receptor subfamily 1 group C member 2;peroxisome proliferator activated receptor delta;peroxisome proliferator-activated nuclear receptor beta/delta variant 2;peroxisome proliferator-activated receptor beta 1643377 BW325_H APPROVED protein-coding ENSG00000112033 HGNC:9235 02679 600409 REVIEWED 1321693 PPDPF pancreatic progenitor cell differentiation and proliferation factor INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; atrazine 20 20 20 q13.33 58832490 58833881 + 62151426 62153524 + 63520780 63522171 + 6480464 11780052;12477932;15489334;20972266;21906983;22505724;23535732;24250222 79144 Q9H3Y8;X6R7I6 ABBA01021402;AK024699;AL121829;AMYH02037461;BC002531;BC056416;CH471077;NM_024299 AAH02531;AAH56416;EAW75264;EAW75265;NP_077275;Q9H3Y8 Hs.79625 1681261;1685153 RH66586;RH78083 C20orf149;FLJ21046;MGC2479;dJ697K14.9;exdpf OTTHUMP00000031562;OTTHUMP00000031563;exocrine differentiation and proliferation factor;pancreatic progenitor cell differentiation and proliferation factor homolog APPROVED protein-coding ENSG00000125534 HGNC:16142 12750 PROVISIONAL 1605955 PPCS phosphopantothenoylcysteine synthetase Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008] 1 1 1 p34.2 41204112 41208024 + 42921968 42939088 + 42456341 42473381 + 6480464;6907045;8554872 11923312;12477932;12906824;14702039;15342556;15489334;16710414;17567985;19683078;21139048;21890473;23000965;24250222 79717 Q5VVM2;Q5VVM3;Q9HAB8 AA748446;ABBA01023132;AK021900;AL445669;AMYH02000879;BC012383;BC062586;BC104938;BC106064;BC112015;BJ990298;BM923950;BP211065;BP872074;CB998485;CH471059;DB479832;NM_001077447;NM_001287506;NM_001287507;NM_001287508;NM_001287509;NM_001287510;NM_001287511;NM_024664 AAI04939;AAI06065;AAI12016;BAB13931;EAX07158;NP_001070915;NP_001274435;NP_001274436;NP_001274437;NP_001274438;NP_001274439;NP_001274440;NP_078940;Q9HAB8 Hs.706662 1673587 SHGC-74722 FLJ11838;MGC117357;MGC138220;RP11-163G10.1 OTTHUMP00000008431;OTTHUMP00000008432;OTTHUMP00000008433;PPC synthetase;phosphopantothenate--cysteine ligase APPROVED protein-coding HGNC:25686 07760 609853 VALIDATED 1312803 PPFIA2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 12 12 12 q21.31 81321211 81820889 - 81652045 82153109 - 81257975 81759330 - 1580863;6480464;8554872 11931740;12119554;12477932;12629171;12923177;15217342;16344560;17043677;18782753;19056867;20174665;20379614;21855798;21906983;22505724;22558309;22885689;23422819;24816145;8889548;9624153 8499 B7Z7Y5;F8VU88;F8VWG6;F8VWR9;F8VYK7;F8W1Y8;G3V200;H0YH95;H0YHJ4;H0YHK3;H0YIJ4;J3KNM3;O75334;Q4LE62 AB210009;ABBA01053481;ABBA01053482;ABBA01053483;ABBA01053484;ABBA01053485;ABBA01053486;AC011316;AC069228;AC078920;AC079363;AC079408;AF034799;AK123372;AK126971;AK294505;AK296380;AK297372;AK299853;AK302658;AK307524;AL157453;AL713132;AMYH02026835;AMYH02026836;AMYH02026837;AMYH02026838;AMYH02026839;AMYH02026840;AMYH02026841;AMYH02026842;AW014561;AW304872;BC104912;BC143485;BM661844;BM689808;BQ027545;BU568524;CB051855;CH471054;DA329958;DA368637;DA499362;DA533482;DA687865;DB083201;DC321269;DC322478;EL947964;NM_001220473;NM_001220474;NM_001220475;NM_001220476;NM_001220477;NM_001220478;NM_001220479;NM_001220480;NM_001282536;NM_003625;XM_006719655;XM_006719656;XM_006719657;XM_006719658;XM_006719659;XM_006719660;XM_006719661;XM_006719662;XM_006719663;XM_006719664;XM_006719665;XM_006719666;XM_006719667;XM_006719668;XM_006719669;XM_006719670 AAC26100;AAI04913;AAI43486;BAE06091;BAG53897;BAG54412;BAH11792;BAH12335;BAH12564;BAH13149;BAH13771;EAW97374;EAW97375;EAW97376;EAW97377;NP_001207402;NP_001207403;NP_001207404;NP_001207405;NP_001207406;NP_001207407;NP_001207408;NP_001207409;NP_001269465;NP_003616;O75334;XP_006719718;XP_006719719;XP_006719720;XP_006719721;XP_006719722;XP_006719723;XP_006719724;XP_006719725;XP_006719726;XP_006719727;XP_006719728;XP_006719729;XP_006719730;XP_006719731;XP_006719732;XP_006719733 Hs.506216;Hs.737103 1339889;1652335;1654499;1691344;1700370;1708768;1709728;1713641;1716255;1720637;1739749;1767469;1774525;1777392;1779440;1782608;1852923;2114002;2121524;2169176;2171754;7187558 1804;AB055332;D12S106;D12S1434;D12S1525E;G31137;G59128;RH103805;RH11207;RH11321;RH120701;RH121155;RH91097;SHGC-143022;SHGC-153422;SHGC-30797;SHGC-36062;SHGC-37423;SHGC-44255;SHGC-81616;SHGC-84675 FLJ41378;MGC132572 OTTHUMP00000243268;OTTHUMP00000243269;OTTHUMP00000243270;OTTHUMP00000243271;OTTHUMP00000243273;OTTHUMP00000243274;OTTHUMP00000243275;OTTHUMP00000243276;OTTHUMP00000243277;PTPRF-interacting protein alpha-2;liprin-alpha 2;liprin-alpha-2;protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-2 APPROVED protein-coding ENSG00000139220 HGNC:9246 04392 603143 REVIEWED 737078 PPFIA4 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008] 1 1 1 q32.1 176149565 176177122 + 202995649 203047864 + 203026521 203078736 + 1580863;6480464;8554872 10048485;11931740;12477932;12629171;12923177;14612982;14623284;14702039;15217342;16713569;17474147;19013515;19536175;20599943;21139048;21829649;24816145;9624153 8497 B1APN9;B3KN22;M0QZB5;M0R219;O75335 AB020704;ABBA01027486;ABBA01027487;AC096632;AC105940;AF034801;AI341415;AK023365;AK124535;AK126185;AK126624;AK295757;AL451082;AMYH02002508;AMYH02002509;BC132923;BC132925;BC144262;CH471067;EF428334;NM_015053;XM_005245553;XM_006711584;XM_006711585;XM_006711586;XM_006711587;XM_006711588;XM_006711589;XM_006711590;XM_006711591;XR_426801;XR_426802;XR_426803;XR_426804 AAC26102;AAI32924;AAI32926;AAI44263;ABR09268;BAA74920;BAC86617;BAG51184;BAG54050;BAG58587;EAW91459;EAW91460;EAW91461;EAW91462;NP_055868;O75335;XP_005245610;XP_006711647;XP_006711648;XP_006711649;XP_006711650;XP_006711651;XP_006711652;XP_006711653;XP_006711654 Hs.153648 1762265;2187265 SHGC-146122;SHGC-76136 Liprin-alpha4;OTTHUMP00000039089;PTPRF-interacting protein alpha-4;liprin alpha4;liprin-alpha-4;protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-4 APPROVED protein-coding ENSG00000143847 HGNC:9248 16012 603145 VALIDATED 1319111 PPFIA1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 11 11 11 q13.3 67376164 67491698 + 70116806 70230607 + 70270682 70384501 + 1580863;6480464;8554872 10737800;11931740;12477932;12629171;12923177;14702039;15217342;15324660;15489334;16189514;16313174;16713569;16973615;17081983;17363573;17419996;18196592;18782753;19060904;19156129;19690048;19787783;20096687;21139048;21145461;21157931;22072677;22295056;22505724;22863883;23443559;24255178;24722188;24778252;24816145;7796809;8524829;9624153 8500 B3KVS8;E9PID5;E9PJZ7;E9PPF6;H0YCJ0;H0YCK6;H0YD39;H0YD72;H0YDW2;H0YDZ8;H0YEF9;H0YEK0;H0YEN7;H0YF15;Q13136 AB209314;ABBA01010305;ABBA01010306;ABBA01010307;ABBA01010308;ABBA01010309;ABBA01010310;AK123331;AK124621;AMYH02025048;AMYH02025049;AP000487;AP002336;AW163189;BC034046;BF352121;BX648037;CH471076;CK902590;D49354;KC877433;NM_003626;NM_177423;NR_045286;U22815;U22816;XM_006718715;XM_006718716;XM_006718717;XM_006718718;XM_006718719;XM_006718720;XM_006718721;XM_006718722;XM_006718723;XM_006718724 AAC50172;AAC50173;AAH34046;ABM83327;BAA08353;BAD92551;BAG53890;BAG54059;EAW74763;EAW74764;EAW74765;NP_003617;NP_803172;Q13136;XP_006718778;XP_006718779;XP_006718780;XP_006718781;XP_006718782;XP_006718783;XP_006718784;XP_006718785;XP_006718786;XP_006718787 Hs.530749;Hs.708791 1758249;1855173;2149029;2158924;2170797;5014627;5111036 D11S1223;SGC36985;SHGC-147791;SHGC-35519;SHGC-36533;STS-H97922;STS-N35019 FLJ41337;FLJ42630;FLJ43474;LIP-1;LIP.1;LIP1;MGC26800 LAR-interacting protein 1;LIPRIN;Liprin-alpha1;OTTHUMP00000235552;OTTHUMP00000235553;PTPRF-interacting protein alpha-1;liprin-alpha-1;protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1 APPROVED protein-coding ENSG00000131626 HGNC:9245 11451 611054 VALIDATED 69168 PPARG peroxisome proliferator-activated receptor gamma This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008] 3 3 3 p25 12266744 12413226 + 12329349 12475855 + 12287850 12434356 + 1580657;1580683;1580684;1580685;1580686;1580687;1580688;1580689;1580690;1580659;1580721;1601443;1601444;1601445;1601446;1331525;1580863;2301854;2301859;2301886;2301860;2301893;2301881;2301884;2301844;2301845;2301849;2301861;2301870;2301875;2301852;2301862;2301843;2301846;2301853;2301856;2301864;2301866;2301874;2301890;2301857;2301868;2301888;2301892;2301850;2301851;2301847;2317462;2317461;2317459;2317460;6480464;5135029;6484113;6907045;7240710;8553040;8552822;8552814;8552894;8552895;8552904;8553190;8552893;8552811;8553030;8553032;8552824;8552971;8553019;8552820;8552818;8553020;8553031;7175297;8553039;8553041;8553043;8554872;8699517;8695944;8699508 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5468 D2KUA6;E7EU07;E7EUD1;E9PFJ1;E9PFV2;E9PFV3;E9PFX5;P37231;Q4W448 AB005520;AB005526;AB097931;AB107271;AB307692;AB451337;AB451486;AB472042;AB565476;ABBA01025204;AC090947;AC091492;AC093174;AF012873;AF012874;AJ563369;AJ563370;AJ698135;AK223528;AK290581;AL523434;AMYH02006290;AMYH02006291;AMYH02006292;AY157024;BC006811;BG323933;BI820841;BM923992;BQ925271;BT007281;CH471055;D83233;DQ356894;HI519538;HQ692866;NG_011749;NM_005037;NM_015869;NM_138711;NM_138712;U63415;U79012;X90563;XM_006713208 AAB04028;AAC51248;AAH06811;AAN38992;AAP35945;ABC97372;ABM82034;ABM85215;ADZ17377;BAA18949;BAA23353;BAA23354;BAD20647;BAD34540;BAD97248;BAF83270;BAG70151;BAG70300;BAH02283;BAI63629;BAM71699;CAA62152;CAA62153;CAD91388;CAD91389;CAG29019;CBX54350;EAW64123;EAW64124;EAW64125;NP_005028;NP_056953;NP_619725;NP_619726;P37231;XP_006713271 Hs.162646 1716475;1744355;1757295;1761535;1792146;1792148;1793504;1794048;1794050;1794910;1854255;2113742;2119074;2122117;2217806;7185028 D15S130;GDB:451806;PMC137581P1;PMC137581P2;PMC22700P1;PMC310777P12;PMC310777P13;PMC84391P1;PPARG;PPARG_2755;RH10742;RH121417;RH12621;SHGC-144700;SHGC-145535;WI-20399 CIMT1;GLM1;NR1C3;PPARG1;PPARG2;PPARgamma OTTHUMP00000160185;OTTHUMP00000160186;OTTHUMP00000185030;OTTHUMP00000185032;OTTHUMP00000185034;OTTHUMP00000185036;OTTHUMP00000207750;PPAR gamma;PPAR-gamma;nuclear receptor subfamily 1 group C member 3;peroxisome proliferator activated receptor, gamma;peroxisome proliferator-activated nuclear receptor gamma variant 1;peroxisome proliferator-activated receptor gamma 1 2289256;2289503;2289518 BW443_H;BW454_H;BW95_H APPROVED protein-coding ENSG00000132170 HGNC:9236 03288 125853;137800;601487;601665;604367;609338 REVIEWED 1353235 PPH1 primary pulmonary hypertension 1 ASSOCIATED WITH Hypertension, Pulmonary (inferred); Pulmonary Veno-Occlusive Disease (inferred) 7240710 9193425 5477 HGNC:9252 178600;265450 1343487 PPH2 primary pulmonary hypertension 2 ASSOCIATED WITH PULMONARY HYPERTENSION, PRIMARY, 2 (inferred) 7240710 89873 HGNC:15733 615342 1316080 PPEF2 protein phosphatase, EF-hand calcium binding domain 2 This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 74081428 74124167 - 76781025 76823681 - 75859872 75902528 - 1580863;6480464;8554872 11713293;12051765;12477932;20674765;9326663 5470 E7EPQ9;O14830 ABBA01063350;ABBA01063351;AC110615;AF023456;AF023457;AL079280;AMYH02009499;AMYH02009500;BC113379;BX648754;CH471057;NM_006239;XM_006714241 AAB82796;AAB82797;AAI13380;AAI48515;EAX05752;EAX05753;EAX05754;EAX05755;NP_006230;O14830;XP_006714304 Hs.290873 1335665;1338627;2128102;2146244 D4S2314;D4S2958;G16765;SHGC-67702 PPP7CB OTTHUMP00000219265;protein phosphatase 7, catalytic subunit, beta isozyme;protein phosphatase with EF hands 2;protein phosphatase, EF hand calcium-binding domain 2;serine/threonine-protein phosphatase with EF-hands 2 APPROVED protein-coding ENSG00000156194 HGNC:9244 03771 602256 REVIEWED 1312318 PPFIA3 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 46489883 46521507 + 49622646 49654287 + 49119389 49151030 + 1580863;6480464 12168954;12477932;12923177;14702039;15217342;15489334;16344560;17474147;18782753;22505724;23443559;24250222;24816145;9624153;9734811 8541 B4DEU8;O75145;R4GN36;R4GNF1 AB014554;ABBA01032938;ABBA01032939;ABBA01032940;ABBA01032941;AC008687;AC008891;AC096864;AC245081;AF034800;AI346749;AK001525;AK023850;AK025972;AK289757;AK293798;AK308483;AMYH02036313;BC021255;BC101518;BC101520;BC143470;BU632015;BX111585;CH471177;DA236900;KF456593;NM_003660;NR_103842;XM_006723450 AAC26101;AAH21255;AAI01519;AAI01521;BAA31629;BAB14702;BAF82446;BAG57209;EAW52457;NP_003651;O75145;XP_006723513 Hs.413748;Hs.604638 1337741;1741683 D1S2695;GDB:182000 KIAA0654;LPNA3;MGC126567;MGC126569 PTPRF-interacting protein alpha-3;liprin;liprin-alpha 3;liprin-alpha-3;protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3;protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3 APPROVED protein-coding ENSG00000177380 HGNC:9247 04393 603144 REVIEWED 1316733 PPFIBP2 PTPRF interacting protein, binding protein 2 (liprin beta 2) This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 11 11 11 p15.4 7654131 7791435 + 7534996 7678537 + 7513765 7657306 + 1580863;6480464 12477932;14702039;15489334;15778465;16189514;16344560;18029348;18482256;19447967;20095854;20379614;21207424;21462929;21832049;21988832;22328529;9624153 8495 E9PI79;E9PIK8;E9PJA0;E9PK17;E9PMH3;E9PMN3;E9PP16;H0YDJ2;H0YDM0;H0YET1;Q8ND30 ABBA01028680;ABBA01028681;AC104237;AC107884;AF034803;AK001131;AK025337;AK097449;AK293669;AK294554;AK296718;AK301978;AK308398;AK311048;AL834426;AMYH02024281;AMYH02024282;BC021026;BC021714;BC031865;BG720018;CH471064;CR749258;DA339729;DA631374;DB243263;DC345713;DC346488;KF455313;NM_001256568;NM_001256569;NM_003621;XM_005253174;XM_005253175;XM_005253176;XM_005253177;XM_006718349;XM_006718350;XM_006718351;XM_006718352;XM_006718353 AAC26104;AAH21714;ABM82556;ABM85746;BAG50858;BAH11563;BAH11806;BAH12419;BAH13599;CAD39087;CAH18114;EAW68652;EAW68653;EAW68654;NP_001243497;NP_001243498;NP_003612;Q8ND30;XP_005253231;XP_005253232;XP_005253233;XP_005253234;XP_006718412;XP_006718413;XP_006718414;XP_006718415;XP_006718416 Hs.655714;Hs.740974 1703668;1704500;1711030;1712202;1714439;1761927;1770768;1780252;1782286;2117076;2156222;2186839 A004U29;D11S1208;D11S4660;G54152;RH120212;RH45476;SHGC-112441;SHGC-145860;SHGC-154807;SHGC-78819;SHGC-82882;SHGC-83011 Cclp1;DKFZp781K06126;MGC42541 OTTHUMP00000230467;OTTHUMP00000230496;OTTHUMP00000230497;OTTHUMP00000230498;PTPRF-interacting protein-binding protein 2;liprin-beta-2;protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2 APPROVED protein-coding ENSG00000166387 HGNC:9250 04391 603142 REVIEWED 2301493 PPIAL4B peptidylprolyl isomerase A (cyclophilin A)-like 4B ENCODES a protein that exhibits peptidyl-prolyl cis-trans isomerase activity (inferred); INVOLVED IN protein folding (inferred); protein peptidyl-prolyl isomerization (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 3-methylcholanthrene; bucladesine 5 1 1 q21.1 46864841 46879784 + 144363462 144364246 - 120889746 120890530 + 6480464 11948409;12477932;14961574;15489334;16710414;22939629 653505 Q9Y536 AB084917;AC253572;AL022240;BX248398;NM_001143883 AAI72332;BAB92073;CAB46877;CAI18814;NP_001137355;Q9Y536 Hs.573713;Hs.631792 5023525 PMC262691P6 COAS-2;COAS2;PPIAL4;PPIAL4A;PPIAL4C OTTHUMP00000015510;PPIase A-like 4A;PPIase A-like 4B;PPIase A-like 4G;chromosome 1-amplified sequence 2;cyclophilin homolog overexpressed in liver cancer;cyclophilin-LC (COAS2);peptidyl-prolyl cis-trans isomerase A-like 4A/B/C;peptidylprolyl cis-trans isomerase A-like 4A;peptidylprolyl cis-trans isomerase A-like 4A/B/C;peptidylprolyl cis-trans isomerase A-like 4B;peptidylprolyl isomerase A (cyclophilin A)-like 4A protein-coding ENSG00000263353 HGNC:33994 PROVISIONAL 1606439 PPIAL4A peptidylprolyl isomerase A (cyclophilin A)-like 4A ENCODES a protein that exhibits peptidyl-prolyl cis-trans isomerase activity (inferred); INVOLVED IN protein folding (inferred); protein peptidyl-prolyl isomerization (inferred); FOUND IN extracellular vesicular exosome 1 q21.2 147954760 147955419 - 6480464 11948409;14961574;22939629 164022 AB084917;AL022240;NM_178230 A2BFH1;AAI72332;BAB92073;CAB46877;NP_839944;Q9Y536 Hs.573713 COAS-2;COAS2;MGC163248;MGC163250;PPIAL4;PPIAL4B;PPIAL4C;PPIAL4D;PPIAL4G OTTHUMP00000069014;PPIase A-like 4A;PPIase A-like 4B;PPIase A-like 4G;chromosome 1 amplified sequence 2;chromosome 1-amplified sequence 2;cyclophilin homolog overexpressed in liver cancer;cyclophilin-LC (COAS2);peptidyl-prolyl cis-trans isomerase A-like 4A/B/C;peptidylprolyl cis-trans isomerase A-like 4;peptidylprolyl cis-trans isomerase A-like 4A;peptidylprolyl cis-trans isomerase A-like 4B;peptidylprolyl isomerase A (cyclophilin A)-like 4;peptidylprolyl isomerase A-like 4A protein-coding ENSG00000255963 HGNC:24369 09781 608608 PROVISIONAL 2301486 PPIAL4D peptidylprolyl isomerase A (cyclophilin A)-like 4D ENCODES a protein that exhibits peptidyl-prolyl cis-trans isomerase activity (inferred); INVOLVED IN protein folding (inferred); protein peptidyl-prolyl isomerization (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (+)-alpha-tocopherol (ortholog); 17alpha-ethynylestradiol (ortholog); 1H-pyrazole (ortholog) 1 1 q21.2 148201752 148202536 - 145241415 145242199 - 6480464 645142 F5H284 AC241585;BX283067;NM_001164261 F5H284;NP_001157733 Hs.730589 5023525 PMC262691P6 PPIase A-like 4D;peptidyl-prolyl cis-trans isomerase A-like 4D protein-coding HGNC:33998 INFERRED 2301492 PPIAL4C peptidylprolyl isomerase A (cyclophilin A)-like 4C ENCODES a protein that exhibits peptidyl-prolyl cis-trans isomerase activity (inferred); INVOLVED IN protein folding (inferred); protein peptidyl-prolyl isomerization (inferred); FOUND IN extracellular vesicular exosome 5 1 1 q21.2 46864841 46879784 + 149553003 149553787 + 149583870 149584459 + 6480464 12477932;14702039 653598 A2BFH1 AC242842;AK123006;AL451058;BC130376;BC130378;NM_001135789;XM_006711714;XM_006726367 AAI30377;AAI30379;CAH71953;NP_001129261;Q9Y536;XP_006711777;XP_006726430 Hs.534674 5023525 PMC262691P6 COAS-2;PPIAL4A;PPIAL4B OTTHUMP00000015826;PPIase A-like 4A;chromosome 1-amplified sequence 2;cyclophilin homolog overexpressed in liver cancer;peptidyl-prolyl cis-trans isomerase A-like 4A/B/C;peptidylprolyl cis-trans isomerase A-like 4A/B/C protein-coding ENSG00000263464 HGNC:33995 VALIDATED 2301495 PPIAL4E peptidylprolyl isomerase A (cyclophilin A)-like 4E 1 1 q21.2 148644011 148644795 + 144372875 144373659 - 22320715 730262 AC246785;AL954711;NM_001144032 NP_001137504 5023525 PMC262691P6 COAS2 protein-coding ENSG00000271567 HGNC:33997 608608 INFERRED 2301101 PPIAL4F peptidylprolyl isomerase A (cyclophilin A)-like 4F 1 1 q21.2 148806015 148806799 + 144592868 144593652 + 728945 AC006359;AC253578;AL592492;NM_001164262 NP_001157734 5023525 PMC262691P6 cyclophilin-LC (COAS2) pseudogene protein-coding ENSG00000279782 HGNC:33999 INFERRED 1353405 PPIAP1 peptidylprolyl isomerase A (cyclophilin A), pseudogene 1 21 21 q21.1 22200236 22200982 - 20827918 20828664 - 10830953 100288185 ABBA01057158;AMYH02037595;AP000957;NG_000914 PPIAP APPROVED pseudo HGNC:9254 INFERRED 1350778 PPIAP10 peptidylprolyl isomerase A (cyclophilin A) pseudogene 10 20 20 20 q13.2 48742599 48743044 + 52037753 52038198 + 53421214 53421659 + 9671742 140913 ABBA01052843;AL354993;AMYH02037288;NG_001008 CRP;PPIAL2;PPIP10;dJ823G15.1 peptidylprolyl isomerase (cyclophilin) pseudogene 10 pseudo HGNC:9264 INFERRED 1349661 PPIAP11 peptidylprolyl isomerase A (cyclophilin A) pseudogene 11 5 5 5 q14.1 77209137 77210016 - 81305169 81306048 - 82009350 82010229 - 19807924;2197089 5483 ABBA01062065;AC114969;AMYH02011692;NG_001177;X52856 PPIP1 peptidylprolyl isomerase (cyclophilin) pseudogene 1 pseudo HGNC:9263 INFERRED 2301115 PPIAL4G peptidylprolyl isomerase A (cyclophilin A)-like 4G ENCODES a protein that exhibits peptidyl-prolyl cis-trans isomerase activity (inferred); INVOLVED IN protein folding (inferred); protein peptidyl-prolyl isomerization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (+)-alpha-tocopherol (ortholog); 17alpha-ethynylestradiol (ortholog); 1H-pyrazole (ortholog) 1 1 q21.1 143767144 143767881 - 148482548 148483285 - 6480464;8554872 12477932;14702039 644591 A2BFH1 AC239811;BX284650;NM_001123068 A2BFH1;ADR82833;CAM26887;NP_001116540 Hs.534674 5023525;5120928 G16257;PMC262691P6 BX284650.5;COAS-2;FLJ16804;MGC163248;MGC163250;PPIAL4A OTTHUMP00000015496;PPIase A-like 4A;PPIase A-like 4G;chromosome 1-amplified sequence 2;peptidyl-prolyl cis-trans isomerase A-like 4G;peptidylprolyl cis-trans isomerase A-like 4;peptidylprolyl cis-trans isomerase A-like 4A;peptidylprolyl cis-trans isomerase A-like 4G protein-coding HGNC:33996 INFERRED 1347945 PPIAP13 peptidylprolyl isomerase A (cyclophilin A) pseudogene 13 10 10 10 q22.2 70137006 70137857 - 76848751 76849602 - 75088993 75089844 - 2197089 5485 ABBA01020266;AL392111;AMYH02023361;NG_005167;X52853 PPIP3 peptidylprolyl isomerase (cyclophilin) pseudogene 3 pseudo HGNC:9266 INFERRED 1345393 PPIAP14 peptidylprolyl isomerase A (cyclophilin A) pseudogene 14 18 18 18 p11.31 4886949 4887766 - 5002511 5003328 - 5002512 5003329 - 2197089 5486 ABBA01049875;AMYH02034241;AP005138;NG_005168;X52854 PPIP4 peptidylprolyl isomerase (cyclophilin) pseudogene 4 pseudo HGNC:9267 INFERRED 1320664 PPFIBP1 PTPRF interacting protein, binding protein 1 (liprin beta 1) The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 12 12 12 p12.1 32822643 32994086 + 27677045 27848497 + 27524112 27695564 + 6480464;8554872 10574462;11836260;12168954;12477932;15161933;15324660;15489334;15778465;17081983;17353931;18029348;19322201;19531213;19965622;20174665;20379614;21139048;21430068;21855798;21906983;22952844;23000965;23443559;24255178;9624153 8496 F5GZP6;F5H0E0;F5H495;F5H6Q7;F5H7K5;H0YFE4;H0YGH8;Q86W92 AB033056;AB049149;ABBA01068049;AC009509;AC068794;AC087257;AF034802;AJ276680;AK000807;AK294267;AK314350;AMYH02026246;BC001560;BC022873;BC046159;BC050281;BM272389;BQ777042;BX648761;CA442440;CH471094;NM_001198915;NM_001198916;NM_003622;NM_177444;XM_005253505;XM_005253506;XM_005253507;XM_005253508;XM_005253509;XM_005253510;XM_005253511;XM_005253514;XM_005253515;XM_005253516;XM_006719159;XM_006719160;XM_006719161 AAC26103;AAH22873;AAH46159;AAH50281;BAA86544;BAB39690;BAG57559;CAB77544;EAW96558;EAW96559;EAW96560;EAW96561;EAW96562;NP_001185844;NP_001185845;NP_003613;NP_803193;Q86W92;XP_005253562;XP_005253563;XP_005253564;XP_005253565;XP_005253566;XP_005253567;XP_005253568;XP_005253571;XP_005253572;XP_005253573;XP_006719222;XP_006719223;XP_006719224 Hs.172445 1680946;1725865;1726067;1726141;1726149;1761185;1764355;2141517;2181749;5015619;5017266;5021872;5022200;5109362 D11S3114;D12S2071;D17S1239;G62242;G62299;G62317;G62360;L18426;L18506;RH17453;RH93757;SHGC-145198;SHGC-147955;sY3084 L2;SGT2;hSGT2;hSgt2p OTTHUMP00000240409;OTTHUMP00000240410;OTTHUMP00000240411;OTTHUMP00000240412;OTTHUMP00000240413;OTTHUMP00000240414;PTPRF-interacting protein-binding protein 1;liprin related protein;liprin-beta 1;liprin-beta-1;protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 1;protein-tyrosine phosphatase receptor-type f polypeptide-interacting protein-binding protein 1 APPROVED protein-coding ENSG00000110841 HGNC:9249 04390 603141 REVIEWED 1353250 PPIAP15 peptidylprolyl isomerase A (cyclophilin A) pseudogene 15 3 3 3 q13.13 107588913 107589712 - 109189927 109190726 - 109471080 109471879 - 2197089 5487 ABBA01061688;AC092905;AMYH02007415;NG_005169;X52855 PPIP5 peptidylprolyl isomerase (cyclophilin) pseudogene 5 pseudo HGNC:9268 INFERRED 1352866 PPIAP17 peptidylprolyl isomerase A (cyclophilin A) pseudogene 17 20 20 20 p12.1 16279399 16280184 - 16204395 16205180 - 16223750 16224535 - 170540 ABBA01054006;AL161941;AMYH02036752;NG_001049 PPIP11;bA494B22.1 peptidylprolyl isomerase (cyclophilin) pseudogene 11 pseudo HGNC:16334 INFERRED 1350563 PPIAP16 peptidylprolyl isomerase A (cyclophilin A) pseudogene 16 3 3 3 p14.3 57941322 57942188 + 57927409 57928275 + 57941682 57942548 + 2197089 5488 ABBA01024399;AC099777;AMYH02006882;NG_005170;X52857 PPIP6 peptidylprolyl isomerase (cyclophilin) pseudogene 6 pseudo HGNC:9269 INFERRED 731273 PPIA peptidylprolyl isomerase A (cyclophilin A) This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq, Jul 2008] 7 7 7 p13 44935095 44941571 + 44836241 44842716 + 44796642 44803117 + 4890972;6480464 20626060 10026140;10096576;10208938;10208939;10581250;10704338;10794694;11058892;11250896;11312344;11337467;11379967;11581426;11790298;11830645;11836403;11859194;11929983;11943775;12009870;12032547;12091904;12167617;12181673;12207006;12208976;12210402;12210730;12218175;12357034;12477877;12477932;12547912;12634401;12665801;12668872;12707923;12730686;12767222;12788626;12810862;12859974;12881522;12881523;12897779;12932580;14505569;14526201;14630798;14716299;14993672;15028279;15098018;15111303;15130913;15147195;15229879;15311922;15358143;15388255;15489334;15596813;1560526;15680395;15688292;15772070;15782160;15845542;15952740;1602151;16027165;16097034;16120388;16169070;16189514;16196087;16199531;16203999;16273344;16275650;16291214;16501094;16502470;16571786;16584201;16643975;16703398;16780588;16785541;16815734;16885564;16901758;16916647;17038183;1715516;17170453;17267487;17449029;17520256;17522232;17565686;17590083;17609268;17620599;17678621;17715216;17804494;17897064;17919644;17927958;17967060;17991743;18191978;18212100;18321308;18367226;18385230;18417509;18421009;18514189;18673375;18678385;18704644;18781797;18789977;18829531;18829762;1896075;18991615;19020832;19056509;19056867;19073742;19092998;19185003;19205352;19254360;19262010;19275580;19282959;19297321;19322201;19328002;19338310;19380579;19386705;19457995;1946361;19503092;19584157;19625401;19639585;19656870;19680534;19694548;19738201;19741300;19758589;19789967;19825046;19857522;19865066;1989998;19932913;19946888;19956261;20000738;20012523;20012529;2001362;20070121;20107018;20139366;20219923;20360068;20364129;20381070;20454998;20471030;20553309;20702630;20708627;20721640;20796224;20849852;20862313;20920334;20946244;20956011;20962083;20972266;21081666;21139048;21145461;21151833;21169362;21245143;21319273;21441138;21464540;21489988;21568899;21585617;21667159;21718636;21724278;21738476;21743322;2179953;21832049;21839816;21853274;21871105;21890473;21906983;21956400;21963094;2197089;21987572;22004035;22174692;22178446;22185200;22205628;22238232;22256739;22301145;22342556;22421161;22446626;22492959;22505724;22580540;22623428;22677509;22701176;22797925;22810585;22814107;22855686;22863883;22874433;22902549;22930659;22939629;22944661;22944692;22990118;22996014;23000965;23022198;23031673;23041358;23087682;23097435;23138189;23152499;23180369;23266279;23320071;23322171;23325683;23332074;23448277;23511555;23558220;23576398;23602568;23741361;23862649;23885082;24036847;24051001;24055605;24250222;24434516;24479545;24502618;24583282;24816145;24982184;25015289;2644542;3297675;7541038;7543589;7572395;7590732;7657784;7821789;7829860;7884893;7969494;7969495;8263916;8421500;8421501;8513493;8648687;8648689;8652511;8659916;8662505;8676442;8676452;8709190;8764025;8806510;8830660;8976380;8980222;8980234;9016720;9032343;9129655;9223641;9261419;9261445;9299338;9305737;9337866;9380739;9385632;9420228;9546659;9557731;9573245;9636359;9658084;9769216;9875332 5478 C9J5S7;E5RIZ5;F8WE65;P62937;V9HWF5 AB451307;AB451438;ABBA01058234;AC013436;AK026569;AK130101;AK290085;AK290851;AK293003;AK297340;AK316564;AMYH02015628;AU100120;AY739283;BC000689;BC003026;BC005320;BC005982;BC007104;BC013915;BC018843;BC037419;BC073992;BC093076;BC106030;BC137057;BC137058;BM806224;BM909285;BU786475;BX347265;BX408703;CD014106;CH236960;CR456707;D28351;EU794650;NG_029697;NM_001300981;NM_021130;X52851;XM_005249791;Y00052 AAH00689;AAH03026;AAH05320;AAH05982;AAH07104;AAH13915;AAH73992;AAH93076;AAI06031;AAI37058;AAI37059;AAU13906;ABM83551;ABM86791;ACJ13704;BAA05717;BAF82774;BAF83540;BAF85692;BAG38153;BAG59794;BAG70121;BAG70252;CAA37039;CAA68264;CAG32988;NP_001287910;NP_066953;P62937;XP_005249848 Hs.356331 2116615;2164245;2164247;2185748;5023525;5023531;5126821 A006J31;G20876;PMC112625P1;PMC262691P6;PMC307696P1;PPIA;SHGC-56052 CYPA;CYPH;HEL-S-69p;MGC117158;MGC12404;MGC23397 OTTHUMP00000159501;OTTHUMP00000208711;OTTHUMP00000208712;PPIase A;T cell cyclophilin;cyclophilin;cyclophilin A;cyclosporin A-binding protein;epididymis secretory sperm binding protein Li 69p;peptidyl-prolyl cis-trans isomerase A;peptidylprolyl isomerase a;rotamase A APPROVED protein-coding ENSG00000196262 HGNC:9253 00457;17376 123840 REVIEWED 1625850 PPIAP18 peptidylprolyl isomerase A (cyclophilin A) pseudogene 18 3 3 3 p21.32 44852005 44854165 + 44914813 44915557 + 44873321 44874065 + 9721214 729673 O75320 ABBA01024735;AC098649;AF026688;AMYH02006651;NG_006115 AAC34969 pseudo HGNC:32454 INFERRED 1314694 PPHLN1 periphilin 1 The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 12 12 12 q12 41521768 41644263 + 42719947 42842422 + 42326145 42450801 + 1580863;6480464;8554872 11042152;12087473;12366696;12477932;12853457;14702039;15383276;15474462;15489334;16117785;16169070;16341674;16964243;17081983;17207965;18029348;19322201;19730898;20379614;21832049;21890473;21900206;22094256;22990118;23000965;23602568;24324551;24457600;24816145 51535 B7Z8L1;F8VP48;F8VPY7;F8VRK2;F8VWU8;F8VXV7;F8W0Q9;F8W6A0;F8WF16;Q8NEY8 ABBA01031404;ABBA01031405;AC079601;AC079684;AF151040;AF151066;AK000186;AK055690;AK056622;AK124921;AK129910;AK299951;AK303612;AK303680;AK308022;AMYH02026359;AMYH02026360;AMYH02026361;AY039238;AY157850;BC015322;BC025306;BC039832;BC040449;BM995486;BQ081957;BX647697;CA444170;CF242917;CH471111;DC424443;NM_001143787;NM_001143788;NM_001143789;NM_016488;NM_201438;NM_201439;NM_201440;NM_201515;R89350;XM_005268962;XM_005268964;XM_005268965;XM_005268966;XM_006719452;XM_006719453;XR_245937 AAF36126;AAF36152;AAH25306;AAH39832;AAK68657;AAO16497;ADQ32990;BAA90996;BAB70985;BAH13181;BAH13997;BAH14015;EAW57845;EAW57846;EAW57847;EAW57848;EAW57849;EAW57850;EAW57851;EAW57852;EAW57853;NP_001137259;NP_001137260;NP_001137261;NP_057572;NP_958846;NP_958847;NP_958848;NP_958923;Q8NEY8;XP_005269019;XP_005269021;XP_005269022;XP_005269023;XP_006719515;XP_006719516 Hs.444157 1341895;1660774;1669440;1684742;1719343;1746111;2109689;2153182;2184813;5014051;5015619;5017781;5021872;5022200;5037552 D11S3114;D12S1653;D8S2278;D8S2279;FXR1;G64643;L18426;PPHLN1_9733;RH123398;RH44661;RH80666;SHGC-64077;STS-W72641;WI-15798;sY3084 HSPC206;HSPC232;MGC48786 OTTHUMP00000241107;OTTHUMP00000241108;OTTHUMP00000241109;OTTHUMP00000241110;OTTHUMP00000241113;OTTHUMP00000241114;OTTHUMP00000241115;OTTHUMP00000241116;OTTHUMP00000241117;OTTHUMP00000241118;gastric cancer antigen Ga50;periphilin-1 APPROVED protein-coding ENSG00000134283 HGNC:19369 10488 608150 REVIEWED 1626556 PPIAP19 peptidylprolyl isomerase A (cyclophilin A) pseudogene 19 10 10 10 q25.3 110179102 110179593 - 116449902 116450393 - 114690143 114690634 - 390006 ABBA01062975;AL137025;AL354873;AMYH02023855;NG_009701 bA108K1.2 pseudo HGNC:31663 INFERRED 1343959 PPIAP2 peptidylprolyl isomerase A (cyclophilin A) pseudogene 2 20 20 20 p11.21 25422450 25423186 - 25348708 25349444 - 25368072 25368808 - 170537 ABBA01048724;AL353812;AMYH02036848;NG_001048;NG_028119 bA384D7.2 pseudo HGNC:16542 INFERRED 4142602 PPIAP20 peptidylprolyl isomerase A (cyclophilin A) pseudogene 20 19 19 p13.2 12618943 12619077 + 12508129 12508263 + 100500737 ABBA01029793;AC008758;AMYH02035549;NG_027657 pseudo HGNC:38037 INFERRED 1342622 PPIAP21 peptidylprolyl isomerase A (cyclophilin A) pseudogene 21 20 20 20 q12 38568098 38568812 + 41859388 41860102 + 43230748 43231462 + 170536 ABBA01052609;AL021395;AMYH02037109;NG_001566 dJ269M15.1 PPIAL APPROVED pseudo HGNC:16246 INFERRED 4889378 PPIAP25 peptidylprolyl isomerase A (cyclophilin A) pseudogene 25 13 13 13 q14.13 27064900 27066396 + 46010291 46011787 + 45436156 45437652 + 647085 ABBA01050975;AL606514;AMYH02027973;NG_011429 pseudo HGNC:39270 INFERRED 4889377 PPIAP24 peptidylprolyl isomerase A (cyclophilin A) pseudogene 24 13 13 13 q33.3 88360071 88361009 - 107515839 107516777 - 106863491 106864429 - 122335 ABBA01027042;AL162574;AMYH02028667;NG_005155 pseudo HGNC:39269 INFERRED 4889389 PPIAP26 peptidylprolyl isomerase A (cyclophilin A) pseudogene 26 13 13 13 q14.3 34380506 34381548 + 53394621 53395663 + 52820486 52821528 + 21906983 121981 ABBA01037066;AL139085;NG_023035 pseudo HGNC:39271 INFERRED 6480995 PPIAP27 peptidylprolyl isomerase A (cyclophilin A) pseudogene 27 13 13 21530315 21530576 - 20956176 20956437 - 100874405 ABBA01068594;AL356285;AMYH02027650;NG_032526 pseudo HGNC:42646 INFERRED 4889170 PPIAP23 peptidylprolyl isomerase A (cyclophilin A) pseudogene 23 13 13 13 q31.3 72771306 72771802 - 91924335 91924831 - 91272081 91272577 - 390419 ABBA01027237;AL353734;AMYH02028470;NG_011394 pseudo HGNC:39268 INFERRED 1345438 PPIAP3 peptidylprolyl isomerase A (cyclophilin A) pseudogene 3 20 20 20 q11.23 32865705 32866209 + 36158442 36158946 + 37530040 37530544 + 170539 ABBA01006621;AL109614;AMYH02037049;NG_001014 bA425M5.2 pseudo HGNC:16545 INFERRED 1602268 PPIAP22 peptidylprolyl isomerase A (cyclophilin A) pseudogene 22 21 21 21 q21.1 5405442 5405939 + 20230097 20230594 + 18857779 18858276 + 10830953;19738201 653214 ABBA01057138;AMYH02037574;AP001538;AP001674;NG_005752 1704558 SHGC-83085 PPIA3L;PPIAL3 APPROVED pseudo HGNC:17236 INFERRED 7204470 PPIAP30 peptidylprolyl isomerase A (cyclophilin A) pseudogene 30 10 10 10 p13 15125349 15125974 - 15196721 15197346 - 15154722 15155347 - 12477932 100192204 ABBA01034594;AL590365;AMYH02022209;BC157831;NR_036506 AAI57832 Hs.714691 pseudo HGNC:44878 PROVISIONAL 7205334 PPIAP31 peptidylprolyl isomerase A (cyclophilin A) pseudogene 31 10 10 10 p11.22 32242484 32242981 - 32477251 32477745 - 32188323 32188817 - 439953 ABBA01033387;AL445071;AMYH02022581;NG_030116 pseudo HGNC:44962 INFERRED 1353009 PPIAP4 peptidylprolyl isomerase A (cyclophilin A) pseudogene 4 14 14 14 q21.1 19442021 19442754 + 39577399 39578132 + 39108195 39108928 + 122552 ABBA01061545;AL109628;AMYH02029049;NG_002483 pseudo HGNC:19935 INFERRED 1347833 PPIAP6 peptidylprolyl isomerase A (cyclophilin A) pseudogene 6 14 14 14 q24.1 48947051 48947893 - 68888169 68889011 - 68421452 68422294 - 2197089 319128 ABBA01023694;AL122013;AMYH02029418;NG_002506;NG_023267;X52852 PPIAP12;PPIP2 pseudo HGNC:20028 INFERRED 1352715 PPIAP7 peptidylprolyl isomerase A (cyclophilin A) pseudogene 7 1 1 1 p21.2 99998020 99998889 - 101736182 101737051 - 101270626 101271495 - 2197089 5489 ABBA01045430;AL109741;AMYH02001567;NG_005171;X52858 PPIP7 peptidylprolyl isomerase (cyclophilin) pseudogene 7 pseudo HGNC:9270 INFERRED 1348915 PPIAP5 peptidylprolyl isomerase A (cyclophilin A) pseudogene 5 14 14 14 q23.1 39697925 39698499 + 59648288 59648862 + 59181570 59182144 + 122842 ABBA01018269;AL359219;AMYH02029287;NG_002484 pseudo HGNC:20027 INFERRED 5508292 PPIAP29 peptidylprolyl isomerase A (cyclophilin A) pseudogene 29 6 6 6 p22.3 26203902 26204712 + 24976605 24977415 + 24976377 24977187 + 20418484;2197089 134997 ABBA01066540;AL160400;AMYH02013333;NG_007346 pseudo HGNC:43021 VALIDATED 5489267 PPIAP28 peptidylprolyl isomerase A (cyclophilin A) pseudogene 28 13 13 13 q12.11 1815006 1815404 - 20753203 20753601 - 20179064 20179462 - 390378 ABBA01068576;AL138688;AMYH02027636;NG_011400 pseudo HGNC:39902 INFERRED 7817704 PPIAP32 peptidylprolyl isomerase A (cyclophilin A) pseudogene 32 10 10 131929980 131930505 - 130131716 130132241 - 101927399 ABBA01009126;AL139123;AMYH02024043 pseudo HGNC:49531 MODEL 1343272 PPIAP8 peptidylprolyl isomerase A (cyclophilin A) pseudogene 8 12 12 12 q23.1 98649004 98649696 - 98984291 98984983 - 98590513 98591205 - 341457 ABBA01053284;AC013283;AMYH02027038;NG_006121;NG_011702 PPIP8 peptidylprolyl isomerase (cyclophilin) pseudogene 8 pseudo HGNC:9271 INFERRED 1345892 PPIAP9 peptidylprolyl isomerase A (cyclophilin A) pseudogene 9 6 6 6 p21.1 33084900 33086426 - 31486754 31488108 - 31518977 31520331 - 21912425;8824804;9689108 5491 ABBA01038079;AC006046;AL662847;AL663061;AMYH02013452;BX001040;BX005439;BX927320;CR753820;CR753864;CT009531;NG_001025 PPIP9 peptidylprolyl isomerase (cyclophilin) pseudogene 9 pseudo HGNC:9272 INFERRED 1344607 PPIC peptidylprolyl isomerase C (cyclophilin C) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008] 5 5 5 q23.2 118313549 118326899 - 122359078 122372425 - 123023383 123036730 - 1580863;6480464;8554872 10077627;12477932;1383094;15489334;1652374;16713569;17207965;19322201;19584346;21139048;21988832;22939629;7909608;8031755;8341703;9045699 5480 P45877 ABBA01068947;AC022116;AC106786;AK290321;AK304053;AMYH02012097;BC002678;BG721394;BU075157;BX472017;CB963241;CH471086;EF506885;NM_000943;S71018 AAB31350;AAH02678;ABO43038;ADQ32383;BAF83010;BAG64962;EAW48878;EAW48879;NP_000934;P45877 Hs.110364 1774926;1798006;5491800 PPIC;PPIC_2382;WI-16818 CYPC;MGC3673 OTTHUMP00000159172;PPIase C;cyclophilin C;parvulin;peptidyl-prolyl cis-trans isomerase C;rotamase C APPROVED protein-coding ENSG00000168938 HGNC:9256 00459 123842 REVIEWED 732990 PPIB peptidylprolyl isomerase B (cyclophilin B) The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009] 15 15 15 q21-q22 41326958 41334299 - 64448014 64455354 - 64155815 64163155 - 1580863;6480464;6484113;7240710;8554872;8699517 10026140;10096576;10935542;11688976;11867726;11955071;11997457;12181673;12397072;12475965;12477932;1286667;14729611;1505219;15095401;1530944;15489334;15635413;15764595;15952740;15989969;16169070;16713569;17081065;1710767;17110338;17353931;17361185;17588944;18054915;18187620;18445599;19056847;19056867;19297321;19503092;19615732;19781681;19940140;19946888;2000394;20089953;20237142;20360068;2040592;20801878;21085665;21103663;21139048;21257749;21281954;21282188;21319273;21559518;21748762;21890473;21906983;21956701;21988832;22174317;22205628;22268729;22426501;22484812;22555451;22798670;22863883;22939629;23000965;23097496;23144461;23862649;24043621;24163370;24270407;24272483;24457600;24550385;24583282;24816145;7522304;7821789;7829860;7909608;8197205;8206968;8513493;9032343;9045699;9378502;9546659 5479 P23284 ABBA01038898;ABBA01038899;AC100840;AK291149;AK311074;AMYH02030596;AY962310;BC001125;BC008848;BC020800;BC032138;BQ931949;CH471082;CR456829;CS208051;D28465;EU794651;HB867236;M60457;M60857;M63573;NG_012979;NM_000942 AAA35733;AAA36601;AAA52150;AAH01125;AAH08848;AAH20800;AAH32138;AAX44050;ABM83215;ABM86414;ACJ13705;BAA05831;BAF83838;CAG33110;CAJ44951;CBF57604;EAW77669;NP_000933;P23284 Hs.434937 1682585;1699468;2127819;2171935;2191477;5024661;5037552;5491274 D15S1174;D8S2279;MARC_23668-23669:1029507689:1;MARC_7211-7212:992008294:1;RH103326;RH91503;RH98542;WI-9117 CYP-S1;CYPB;HEL-S-39;MGC14109;MGC2224;OI9;SCYLP OTTHUMP00000163975;PPIase B;S-cyclophilin;cyclophilin b;cyclophilin-like protein;epididymis secretory protein Li 39;peptidyl-prolyl cis-trans isomerase B;rotamase B APPROVED protein-coding ENSG00000166794 HGNC:9255 00458 123841;259440 REVIEWED 3476416 PPIEL peptidylprolyl isomerase E-like pseudogene 1 1 1 p34.3 38269790 38307084 - 39987952 40025370 - 39522280 39559698 - 14702039;15146197;16344560;17471289 728448 Q8N214 ABBA01023207;ABBA01023208;AI075765;AK092606;AK093659;AL365277;AMYH02000833;AMYH02000834;AMYH02000835;DA168720;DA449721;HG491928;HG491930;KF459726;NR_003929 BAC04213 Hs.472508 1678043;1686260;1686580;1711460;1729734;1733006;1854710;2151952;2175891;2220574;5015619;5020946;5020948;5022200;5022578;5037552 A001T47;D11S3114;D1S1374;D1S1423;D1S168;D1S2495;D20S1124;D8S2279;G35510;G49186;L17971;L18426;RH39552;RH76261;RH93165;UniSTS:485525 FLJ35287;FLJ36340;PPIEP1;RP11-69E11.4 APPROVED pseudo HGNC:33195 VALIDATED 1354243 PPIF peptidylprolyl isomerase F The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008] 10 10 10 q22-q23 74393355 74401225 + 81107220 81115090 + 79347464 79355334 + 1580863;6480464;6907045;8554872 10647893;10903836;11790298;12077116;12149099;12477932;12975309;15164054;15489334;15635413;16385451;17207965;1744118;18614807;19228691;20379614;20734064;20877624;20881960;21139048;21890473;22304920;22939629;23000965;24250222;24583282;9874241 10105 H0Y548;P30405;R4GN99 ABBA01020211;AK296669;AK312757;AL133481;AL391665;AL832720;AMYH02023398;AY358854;BC005020;BC013204;BC110299;BE791220;CH471083;M80254;NM_005729;XM_005269379 AAA58434;AAH05020;AAI10300;AAQ89213;ACE87134;ADQ32373;BAG35623;BAG59266;EAW54645;EAW54646;EAW54647;EAW54648;NP_005720;P30405;XP_005269436 Hs.381072 1698750;1709998;1714115;1782200;2115760;2120428;2120430;2187392;5015559 A006B47;D10S1558;D10S2355;G20689;RH102938;RH119664;SHGC-156301;SHGC-82268;WI-20925 CYP3;CyP-M;Cyp-D;CypD;FLJ90798;MGC117207 OTTHUMP00000019925;OTTHUMP00000019926;PPIase F;cyclophilin 3;cyclophilin D;cyclophilin F;mitochondrial cyclophilin;peptidyl-prolyl cis-trans isomerase F, mitochondrial;peptidyl-prolyl cis-trans isomerase, mitochondral;peptidyl-prolyl cis-trans isomerase, mitochondrial;rotamase F APPROVED protein-coding ENSG00000108179 HGNC:9259 06839 604486 REVIEWED 8548276 PPIAP33 peptidylprolyl isomerase A (cyclophilin A) pseudogene 33 9 9 9 p24.1 7429586 7528801 + 7499155 7598374 + 7499155 7598374 + 23251661;23382691 392285 ABBA01065373;AL391872;AL591509;AMYH02019112;AMYH02019113;AMYH02019114 pseudo HGNC:49752 MODEL 4143664 PPIGP1 peptidylprolyl isomerase G (cyclophilin G) pseudogene 1 5 5 5 q33.2 150948512 150950776 + 154870705 154873372 + 155491145 155493812 + 100131033 ABBA01026209;AC008725;AMYH02012520;NG_028955 pseudo HGNC:34231 INFERRED 731455 PPIG peptidylprolyl isomerase G (cyclophilin G) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN protein folding (inferred); protein peptidyl-prolyl isomerization (inferred); RNA splicing (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH acetylsalicylic acid; arsenous acid; asbestos 2 2 2 q31.1 164059707 164113097 + 170440850 170497916 + 169584340 169641406 + 1580863;6480464 12477932;14702039;15016823;15302935;15324660;15358154;15489334;17081983;18029348;19058789;20195357;21078624;21145461;22365833;22952844;23166591;23602568;24816145;8973360;9153302 9360 C9J679;C9JM79;C9JN15;C9JT64;E9PG73;Q13427 ABBA01014890;ABBA01014891;AC016772;AC093899;AK124958;AK307552;AMYH02005187;BC001555;BC063711;BC073875;BC109373;BC111693;BG615922;CA418130;CH471058;NM_004792;U40763;X99717;XM_005246966;XM_005246967 AAB40347;AAH01555;AAH63711;AAH73875;AAI09374;AAI11694;AAY24119;AAY24233;CAA68053;EAX11266;EAX11267;EAX11268;EAX11269;EAX11270;NP_004783;Q13427;XP_005247023;XP_005247024 Hs.470544;Hs.593163 1643626;1754511;1770567;2117297;2144704;2147457;2154609;2161116;2162151;2162153;5107580 A002C38;A008Q16;D2S192E;G19938;RH69911;RH78749;SHGC-132787;SHGC-33882;STS-M78264;WI-11413;WI-19649 CARS-Cyp;CASP10;CYP;MGC133241;SCAF10;SR-cyp;SRCyp CARS-cyclophilin;Clk-associating RS-cyclophilin;OTTHUMP00000163061;OTTHUMP00000204761;OTTHUMP00000204762;OTTHUMP00000204763;OTTHUMP00000230047;OTTHUMP00000230048;PPIase G;SR-cyclophilin;SR-related CTD-associated factor 10;cyclophilin G;matrin cyclophilin (matrin-cyp);peptidyl-prolyl cis-trans isomerase G;peptidyl-prolyl isomerase G (cyclophilin G);rotamase G protein-coding ENSG00000138398 HGNC:14650 12083 606093 VALIDATED 1353678 PPIHP1 peptidylprolyl isomerase H (cyclophilin H) pseudogene 1 11 11 11 q23 109053600 109054333 - 111900386 111901118 - 112029662 112030394 - 246731 ABBA01039808;AMYH02025577;AP000907;AP002007;AY425814;NG_001586;NG_013342 2161443 STS-AA025365 pseudo HGNC:31355 INFERRED 1344032 PPIHP2 peptidylprolyl isomerase H (cyclophilin H) pseudogene 2 X X X q23 113248958 113249705 + 112765709 112766456 + 113522438 113523185 + 404199 ABBA01043039;AC233289;AL030995;AMYH02040256;AY425815;NG_004860 pseudo HGNC:31356 INFERRED 1322860 PPIE peptidylprolyl isomerase E (cyclophilin E) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities, and it also exhibits RNA-binding activity. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 1, has been identified. [provided by RefSeq, Aug 2010] 1 1 1 p32 38486281 38511350 + 40204517 40229586 + 39738845 39763914 + 1580863;6480464;6907045 11313484;11976948;11991638;12477932;14702039;15489334;15963461;16169070;16189514;16344560;16710414;17207965;18258190;18676843;19471022;19932913;20360068;20460131;20532202;20541251;20677832;21139048;21887220;21890473;22365833;22379092;22939629;23000965;23084401;24457600;8889548;8977107;9747881 10450 E9PEQ6;E9PIB0;E9PK21;E9PKY5;E9PMH0;H0YCV4;H0YE31;Q9UNP9 ABBA01023201;AF042385;AF042386;AF104012;AF104013;AI079772;AK094660;AK130628;AK293094;AK304694;AK313666;AL033527;AL035404;AL049824;AL833576;AMYH02000837;BC004898;BC008451;BC107736;BU160972;BU179717;BU196539;BU689929;CA445146;CH471059;CK300365;DA079924;DQ160195;NM_001195007;NM_006112;NM_203456;NR_036543;NR_036544;XM_006710288;XM_006710289;XM_006710290;XM_006710291;XM_006710292 AAC00006;AAC00007;AAD19906;AAD19907;AAH04898;AAH08451;AAI07737;AAZ93379;ADQ31890;BAF85783;BAG36418;BAG52903;BAG65464;EAX07255;EAX07256;NP_001181936;NP_006103;NP_982281;Q9UNP9;XP_006710351;XP_006710352;XP_006710353;XP_006710354;XP_006710355 Hs.524690 1686260;1725661;1729734;1797328;2108875;2176208;5014063;5017227 BMP8B_2501;D15S1390;D1S168;D1S3422;G38154;G62039;PPIE_9112;RH93165 CYP-33;CYP33;MGC111222;MGC3736 OTTHUMP00000010837;OTTHUMP00000010838;OTTHUMP00000010839;OTTHUMP00000010840;OTTHUMP00000230708;OTTHUMP00000230709;PPIase E;cyclophilin 33;cyclophilin E;cyclophilin-33;peptidyl-prolyl cis-trans isomerase E;peptidylprolyl isomerase E, isoform 1;rotamase E APPROVED protein-coding ENSG00000084072 HGNC:9258 03893 602435 REVIEWED 1346840 PPIL1P1 peptidylprolyl isomerase (cyclophilin)-like 1 pseudogene 1 2 2 2 p23.3 26224929 26226960 + 26384697 26386728 + 26161828 26163859 + 9847074 150947 ABBA01045175;AC011742;AMYH02003456;NG_001555 pseudo HGNC:20865 INFERRED 1319281 PPIL1 peptidylprolyl isomerase (cyclophilin)-like 1 This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 38377637 38397836 - 36822605 36842800 - 36854829 36875024 - 1580863;6480464;6907045 10072585;10810093;11991638;12477932;12975309;14574404;15383276;15489334;15772761;16159877;16595688;19738201;20007319;20360068;20368803;21139048;21890473;22365833;22623428;23000965;23443559;23602568;24457600;24816145;8978786;9647638 51645 Q9Y3C6 ABBA01038267;AF090992;AF151882;AK026636;AL122034;AMYH02013558;AY359032;BC003048;BU195579;CH471081;CQ756576;NM_016059;Z85996 AAD34119;AAH03048;AAQ89391;ABM83439;ABM86653;CAF32598;EAX03916;EAX03917;EAX03918;NP_057143;Q9Y3C6 Hs.27693 1648368;1670874;1670876;1724755;2164928 A006A37;G20659;HSC1ZG092;RH122584;WI-12521 CGI-124;CYPL1;MGC678;hCyPX OTTHUMP00000016310;PPIase;cyclophilin-related gene 1;peptidyl-prolyl cis-trans isomerase;peptidyl-prolyl cis-trans isomerase-like 1;rotamase PPIL1 APPROVED protein-coding ENSG00000137168 HGNC:9260 03194 601301 REVIEWED 1350391 PPIL3 peptidylprolyl isomerase (cyclophilin)-like 3 This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2008] 2 2 2 q33.1 195490309 195508479 - 201735630 201754048 - 200870907 200889326 - 1302302;6480464;8554872 11435694 11991638;12477932;14702039;15489334;15735342;15815621;15989758;16189514;16510998;18474220;19322201;20379614;21139048;21890473;21906983;22365833;22797925;22939629;23000965;23824909 53938 B8ZZ77;C9J4N2;C9K058;F8WC82;H7BZ14;Q9H2H8 ABBA01062523;ABBA01062524;AC005037;AF146799;AF251049;AF271652;AF414127;AK297804;AMYH02005543;AX878622;AY257468;BC007693;BC031679;CB961908;CH471063;NM_032472;NM_130906;XM_005246651;XM_005246652 AAG44766;AAH07693;AAK34939;AAO64723;AAP13527;AAP97286;AAY14723;ADZ15944;BAG60142;CAE90199;EAW70220;EAW70221;EAW70222;EAW70223;NP_115861;NP_570981;Q9H2H8;XP_005246708;XP_005246709 Hs.121076 1678911 RH93729 CYPJ OTTHUMP00000163670;OTTHUMP00000163671;OTTHUMP00000206157;OTTHUMP00000206158;OTTHUMP00000206159;OTTHUMP00000206160;OTTHUMP00000206161;PPIase;PPIase-like protein 3;cyclophilin J;cyclophilin-like protein 3;cyclophilin-like protein PPIL3;peptidyl-prolyl cis-trans isomerase-like 3;peptidylprolyl cis-trans isomerase-like protein 3;rotamase PPIL3 APPROVED protein-coding ENSG00000240344 HGNC:9262 15163 615811 REVIEWED 1319848 PPIL2 peptidylprolyl isomerase (cyclophilin)-like 2 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 5837808 5869733 + 22020273 22052202 + 21665984 21697913 + 1580863;6480464;6907045 10591208;11435423;12477932;14702039;15189447;15461802;15489334;15840729;15946952;16344560;18029348;19669607;21139048;21832049;21890473;22365833;24324551;24816145;8660300;8889548 23759 C9JDF0;F8WC56;Q13356 AA743164;ABBA01055059;ABBA01055060;ABBA01055061;AF320072;AK097249;AK127259;AK289545;AK299206;AL702046;AMYH02038120;AMYH02038121;AP000553;BC000022;BC028385;BM981665;CH471095;CR456548;DA863607;NM_014337;NM_148175;NM_148176;U37219;U37220;U37221;XM_005261447;XM_005261448;XM_006724197;XM_006724198 AAC50376;AAC50377;AAC50378;AAH00022;AAH28385;AAK07635;ABM82585;ABM85772;BAF82234;BAG61246;CAG30434;CAK54579;CAK54878;EAW59469;EAW59470;EAW59471;EAW59472;EAW59473;EAW59474;EAW59475;EAW59476;NP_055152;NP_680480;NP_680481;Q13356;XP_005261504;XP_005261505;XP_006724260;XP_006724261 Hs.438587 1669964;1698390;2110045;2128404;2155843;7186001 A006V27;D22S446;RH102737;SHGC-34311;STS-U37219;YPEL1_9589 CYC4;CYP60;Cyp-60;FLJ39930;MGC33174;MGC787;UBOX7;hCyP-60 OTTHUMP00000028566;OTTHUMP00000198560;OTTHUMP00000198561;PPIase;U-box domain containing 7;cyclophilin, 60kDa;cyclophilin-60;cyclophilin-like protein CyP-60;peptidyl-prolyl cis-trans isomerase-like 2;peptidylprolyl cis-trans isomerase;rotamase PPIL2 APPROVED protein-coding ENSG00000100023 HGNC:9261 08472 607588 REVIEWED 1342741 PPID peptidylprolyl isomerase D The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008] 4 4 4 q31.3 156971120 156985388 - 159630279 159644552 - 158709127 158723400 - 1580699;1580863;4892102;6480464;6907045 16103352;18451092 11350175;11525244;12145316;12149099;12477932;12665801;14729611;14968112;15033717;1544925;15489334;15497503;15761153;16169070;16507998;16551620;16650407;18029348;18076075;18708059;18806802;19228691;19735641;19738201;19932913;19953087;20023700;20037589;20159966;20188096;20661446;20843780;20978188;21121808;21139048;21146485;21832049;21886157;21890473;21900206;21906983;21963094;22013052;22087225;22505724;22681779;22863883;22892127;23000965;23303179;23845906;23940030;24816145;24946211;25015289;25036637;7744028;8509368;8812478;8889548;9195923;9222609;9659917;9660753 5481 E5KN55;H0Y8J0;H0Y969;Q08752 ABBA01070208;AC107219;AK313929;AMYH02010376;AY714221;BC014893;BC030707;BG699755;BU726810;CH471056;CR542081;D63861;HQ205146;HQ205147;HQ205148;HQ205149;HQ205151;HQ205152;HQ205153;HQ205154;HQ205155;HQ205156;HQ205157;HQ205158;HQ205159;HQ205160;HQ205161;HQ205162;HQ205163;HQ205165;HQ205166;HQ205168;HQ205169;HQ205170;HQ205171;HQ205172;HQ205173;HQ205174;HQ205175;HQ205176;HQ205177;HQ205178;HQ205179;HQ205180;HQ205181;HQ205182;HQ205183;HQ205184;HQ205185;L11667;NM_005038 AAA35731;AAH14893;AAH30707;AAT97986;ABM82488;ABM85675;ADP90614;ADP90615;ADP90616;ADP90617;ADP90619;ADP90620;ADP90621;ADP90622;ADP90623;ADP90624;ADP90625;ADP90626;ADP90627;ADP90628;ADP90629;ADP90630;ADP90631;ADP90633;ADP90634;ADP90636;ADP90637;ADP90638;ADP90639;ADP90640;ADP90641;ADP90642;ADP90643;ADP90644;ADP90645;ADP90646;ADP90647;ADP90648;ADP90649;ADP90650;ADP90651;ADP90652;ADP90653;BAA09923;BAG36649;CAG46878;EAX04853;NP_005029;Q08752 Hs.183958 1339481;1772879;2145035;2150922;2190465;5019070;5037552;5118444 BARC0073;D11S3316;D4S2997;D8S2279;G44334;SHGC-67406;STS-L11667;STS-W94905 CYP-40;CYPD;MGC33096 40 kDa peptidyl-prolyl cis-trans isomerase D;OTTHUMP00000220869;PPIase D;cyclophilin 40;cyclophilin D;cyclophilin-40;cyclophilin-related protein;peptidyl-prolyl cis-trans isomerase D;rotamase D APPROVED protein-coding ENSG00000171497 HGNC:9257 11875 601753 REVIEWED 1345594 PPIP2 peptidylprolyl isomerase (cyclophilin) pseudogene 2 2197089 5484 HGNC:9265 1352974 PPIL6 peptidylprolyl isomerase (cyclophilin)-like 6 ENCODES a protein that exhibits peptidyl-prolyl cis-trans isomerase activity (inferred); INVOLVED IN protein folding (inferred); protein peptidyl-prolyl isomerization (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 6 6 6 q21 110458002 110508958 - 109711418 109762374 - 109390215 109441171 - 1580863;6480464 12477932;14574404;15489334;16344560;18391951 285755 B4DEK6;H0Y7C3;H0YAQ8;H0YC62;Q8IXY8 ABBA01026126;ABBA01026127;AI052546;AK293674;AK315790;AL109947;AL359711;AMYH02014279;BC026359;BC026360;BC038716;BI824055;BQ012747;CH471051;DA413621;DC419072;DQ363562;DQ423529;NM_001111298;NM_001286360;NM_001286361;NM_173672;NR_104429 AAH26359;AAH26360;AAH38716;ABC88651;ABD83948;BAG38136;BAG57117;EAW48347;NP_001104768;NP_001273289;NP_001273290;NP_775943;Q8IXY8 Hs.32234 1340865;2156660;5022578;5022651;5037552;5120437 D11S2921;D11S930;D1S1423;D8S2279;GDB:315881;RH12821 MGC27054;MGC27056;MGC41939;RSPH12;bA425D10.6;dJ919F19.1 OTTHUMP00000034763;OTTHUMP00000034764;OTTHUMP00000225894;OTTHUMP00000225895;OTTHUMP00000225896;PPIase;cyclophilin-like protein PPIL6;peptidyl-prolyl cis-trans isomerase-like 6;peptidyl-prolyl cis-trans isomerase-like variant a;radial spoke 12 homolog;rotamase PPIL6 protein-coding ENSG00000185250 HGNC:21557 15165 VALIDATED 2290510 PPIP5K1P1 diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 15 15 q15.3 43956515 43977026 - 43664317 43684828 - 12825070 554224 ABBA01049640;AC011330;AMYH02030310;AMYH02030311;AMYH02030312;AMYH02030313;AMYH02030314;AMYH02030315;AMYH02030316;AMYH02030317;AMYH02030318;AMYH02030319;AMYH02030320;AMYH02030321;AMYH02030322;AMYH02030323;NG_029358 1798666;1798734;1799040;1799332;1799382;1799510;1799726;1800032;1800122;1800292;1800328;1800376;1800438;1800528;1801414;1801416;1801524;1802982;1803224;1803294;1803342;1804038;1804224;1804910;1806784;1807314;1809112;1810224;1826116;1826204;1826290;1826370;1827546;1830370;1838714;1841724;1842826;1932926;1932932;1933144;1933146;1933148;1933150;1933152;1933154;1933156;1933158;1933160;1933162;1933166;1933168;1933170;1933172;1933174;1933176;1933178;1933180;2111262;2140490;2208842;2208844;2208846;2208848;2208850;2208852;2208854;2208856;2208858;2208860;2208862;2208864;2208866;2208868;2208870;2208872;2208972;2208974;2208976;2208978;2208980;2208982;2208984;2208986 D15S504;D15S917;ECD00173;ECD00207;ECD00365;ECD00515;ECD00541;ECD00606;ECD00717;ECD00871;ECD00917;ECD01004;ECD01022;ECD01047;ECD01079;ECD01124;ECD01581;ECD01582;ECD01640;ECD02381;ECD02504;ECD02543;ECD02567;ECD02935;ECD03034;ECD03390;ECD04352;ECD04627;ECD05544;ECD06104;ECD14167;ECD14213;ECD14257;ECD14298;ECD14889;ECD16319;ECD20534;ECD22060;ECD22620;REN37295;REN37298;REN37404;REN37405;REN37406;REN37408;REN37409;REN37410;REN37411;REN37412;REN37413;REN37414;REN37416;REN37417;REN37418;REN37419;REN37420;REN37421;REN37422;REN37423;stSG627775;stSG627776;stSG627777;stSG627778;stSG627779;stSG627780;stSG627781;stSG627782;stSG627784;stSG627785;stSG627786;stSG627787;stSG627789;stSG627790;stSG627791;stSG627792;stSG627851;stSG627852;stSG627853;stSG627854;stSG627855;stSG627860;stSG627867;stSG627868 HISPPD2B;HISPPD2BP APPROVED pseudo HGNC:32373 INFERRED 1604040 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 Inositol phosphates (IPs) and diphosphoinositol phosphates (PP-IPs), also known as inositol pyrophosphates, act as cell signaling molecules. HISPPD1 has both IP6 kinase (EC 2.7.4.21) and PP-IP5 (also called IP7) kinase (EC 2.7.4.24) activities that produce the high-energy pyrophosphates PP-IP5 and PP2-IP4 (also called IP8), respectively (Fridy et al., 2007 [PubMed 17690096]).[supplied by OMIM, Mar 2008] 5 5 5 q21.1 98413095 98486730 + 102455958 102539224 + 103120254 103203523 + 6480464;8554872 12477932;16344560;17549794;17690096;17702752;18981179;20379614;21906983;22119861;22939629;23240582;24816145;9455477 23262 B4DGV1;D6RBU4;D6RFG4;H0Y9M0;H0Y9S9;K7EJG8;K7ENU7;K7EPT7;O43314 AB007893;ABBA01069147;ABBA01069148;ABBA01069149;AC008447;AC011362;AK025159;AK027116;AK294787;AMYH02011880;AMYH02011881;BC024591;CH471086;DB298507;DC404725;NM_001276277;NM_001281471;NM_015216;XM_005271935;XM_005271936;XM_005271938;XM_005277534;XM_005277535;XM_005277536;XM_005277538;XM_005277539;XM_005277541;XM_006714576;XM_006714577;XM_006714578 AAH24591;BAA24863;BAG57912;EAW49076;EAW49077;EAW49078;EAW49079;NP_001263206;NP_001268400;NP_056031;O43314;XP_005271992;XP_005271993;XP_005271995;XP_005277591;XP_005277592;XP_005277593;XP_005277595;XP_005277596;XP_005277598;XP_006714639;XP_006714640;XP_006714641 Hs.212046 1643872;1797130;1854473 KIAA0433;RH65244;SGC34163 FLJ21506;FLJ23463;HISPPD1;IP7K2;KIAA0433;VIP2;hsVIP2 OTTHUMP00000222705;OTTHUMP00000222706;OTTHUMP00000222707;VIP1 homolog 2;histidine acid phosphatase domain containing 1;histidine acid phosphatase domain-containing protein 1;inositol heptaphosphate kinase 2;inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2;insP6 and PP-IP5 kinase 2 APPROVED protein-coding ENSG00000145725 HGNC:29035 13802 611648 VALIDATED 1322302 PPIL4 peptidylprolyl isomerase (cyclophilin)-like 4 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq, Jul 2008] 6 6 6 q25.1 150560719 150602255 - 149825631 149867238 - 149504495 149546102 - 6480464 11978968;12477932;12747765;14574404;14702039;15231748;15489334;17081983;19615732;21252943;21890473;21906983;22053931;22365833;23000965;23402259;23891004;24390342;24816145 85313 Q5T4S2;Q8WUA2 ABBA01025679;ABBA01025680;ABBA01025681;AF068298;AF308286;AF357880;AK092069;AK315388;AL078581;AL357619;AMYH02014690;AMYH02014691;BC016984;BC020986;BC064134;BC107684;BX537536;CH471051;NM_139126 AAF65187;AAG48254;AAH16984;AAH20986;AAH64134;AAI07685;AAM63961;ACT64498;ACT64499;BAG37781;BAG52476;CAD97776;EAW47799;EAW47800;NP_624311;Q8WUA2 Hs.744238 1773558 D6S1064 HDCME13P OTTHUMP00000017393;PPIase;cyclophilin-like protein PPIL4;cyclophilin-type peptidyl-prolyl cis-trans isomerase;peptidyl-prolyl cis-trans isomerase-like 4;rotamase PPIL4;serologically defined breast cancer antigen NY-BR-18 APPROVED protein-coding ENSG00000131013 HGNC:15702 07606 607609 REVIEWED 1347300 PPIH peptidylprolyl isomerase H (cyclophilin H) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq, Jul 2008] 1 1 1 p34.1 41405975 41424356 + 43123706 43142429 + 42658358 42676758 + 1580863;6480464;6907045 10713041;11823439;12477932;12875835;12907720;15489334;15635413;16196087;16723661;17643375;19615732;19738201;19932913;20360068;21139048;21145461;21890473;21906983;21963094;22365833;22505724;22623428;22939629;22944692;22990118;23000965;23349634;23667531;24816145;9404889;9570313 10465 A6NM32;C9JAN8;C9JQD4;H0YEL5;O43447;Q6FH36 ABBA01023129;AC098484;AF016371;AF036331;AK309438;AK310052;AK311979;AMYH02000881;BC003412;BT019343;BU955702;CH471059;CR541899;CR541920;NM_006347;XM_005270362;XM_005270364;XM_005270366;XM_006710293;XR_426585 AAC51927;AAC60793;AAH03412;AAV38150;ABM81897;ABM85072;BAG34918;CAG46697;CAG46718;EAX07151;EAX07152;EAX07153;EAX07154;EAX07155;EAX07156;NP_006338;O43447;XP_005270419;XP_005270421;XP_005270423;XP_006710356 Hs.256639 2161443 STS-AA025365 CYP-20;CYPH;MGC5016;SnuCyp-20;USA-CYP OTTHUMP00000008725;OTTHUMP00000008726;OTTHUMP00000008728;PPIase h;U-snRNP-associated cyclophilin SnuCyp-20;U-snRNP-associated cyclophilin SunCyp-20;USA-CyP SnuCyp-20;cyclophilin H;peptidyl prolyl isomerase h (cyclophilin h);peptidyl-prolyl cis-trans isomerase H;rotamase H;small nuclear ribonucleoprotein particle-specific cyclophilin H APPROVED protein-coding ENSG00000171960 HGNC:14651 12084 606095 REVIEWED 1350294 PPM1E protein phosphatase, Mg2+/Mn2+ dependent, 1E This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] 17 17 17 q22 53295075 53524883 + 56833230 57062540 + 58755869 58985179 + 1580863;6480464;7241020;7794756;8554872 18454172;20801214 10470851;11726284;11864573;12477932;15496589;15680915;17043677;17897624;17903297;18029348;23620142;23666239 22843 A7E2X1;Q8WY54 AB028995;ABBA01041351;ABBA01041352;ABBA01041353;ABBA01041354;ABBA01041355;ABBA01041356;AC025521;AC100832;AF260269;AF520614;AK289966;AMYH02033694;AMYH02033695;AMYH02033696;AMYH02033697;AMYH02033698;BC136290;BC143845;BC151228;CH471109;CR749253;NM_014906;NR_048561;XM_005257169 AAF70325;AAI36291;AAI51229;AAM76058;BAA83024;BAF82655;CAH18109;EAW94429;NP_055721;Q8WY54;XP_005257226 Hs.245044 1659069;1662594;1691752;1691760;1691762;1693438;1693444;1734414;2131468;2177647;2219552;5491525;5492013 D17S1389E;D17S1680;G42224;G42232;G42234;G42381;G42385;MARC_17001-17002:1020863780:1;PPM1E__5569;RH11893;WI-15527;WI-18603;ksks326 CaMKP-N;DKFZp781F1422;KIAA1072;POPX1;PP2CH;caMKN ca(2+)/calmodulin-dependent protein kinase phosphatase N;caMKP-nucleus;nuclear calmodulin-dependent protein kinase phosphatase;partner of PIX 1;partner of PIX-alpha;partner of PIXA;protein phosphatase 1E;protein phosphatase 1E (PP2C domain containing) APPROVED protein-coding ENSG00000175175 HGNC:19322 17888 REVIEWED 731572 PPM1A protein phosphatase, Mg2+/Mn2+ dependent, 1A The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 14 14 14 q23.1 40762274 40815941 + 60712470 60765805 + 60245752 60299087 + 1580863;6480464;6484113;6907045;8554872 10400656;10480873;10580002;10644691;11479720;11559703;11959144;12477932;12514180;12761501;1311954;14663150;14702039;15016818;15489334;15728831;16344560;16541025;16712791;16751101;16931515;17353931;17620599;17729405;18482992;18829461;18930133;19404668;20379614;20970119;21139048;21988832;22036096;22041443;22519956;22588298;22727189;23000965;23184937;23560844;23779087;23812431;23906386;24337577;24816145;25036637;8386634;9003755;9707433 5494 B2R8E4;E9PJN3;E9PKB5;E9PL75;E9PNE1;E9PP44;P35813 AB451247;AB451371;ABBA01018278;ABBA01018279;AF070670;AI076736;AK097843;AK124299;AK308225;AK313337;AL132778;AL157756;AMYH02029292;AMYH02029293;AMYH02029294;AY236965;BC026691;BC063243;BF511118;BQ876369;CA427296;CB156710;CH471061;DA439296;L32169;NG_029698;NM_021003;NM_177951;NM_177952;S87759;XM_005267777;XM_005267778;XM_005267779;XM_005267780;XM_005267781;XM_006720179;XM_006720180 AAB21784;AAC28354;AAH26691;AAH63243;AAQ20086;ABM82692;ABM85876;BAG36141;BAG70061;BAG70185;EAW80774;EAW80775;EAW80776;EAW80777;NP_066283;NP_808820;NP_808821;P35813;XP_005267834;XP_005267835;XP_005267836;XP_005267837;XP_005267838;XP_006720242;XP_006720243 Hs.130036 1676057;1678777;1698398;1725187;1736398;1738945;2110667;2154503;2161284;5108050 D14S1259;D14S656E;D14S794;PPM1A__5759;RH102741;RH124067;RH17916;RH92556;RH98675;STS-AA034525 FLJ42306;MGC9201;PP2C-ALPHA;PP2CA;PP2Calpha OTTHUMP00000179040;OTTHUMP00000179041;OTTHUMP00000232007;OTTHUMP00000232008;OTTHUMP00000245208;phosphatase 2C alpha;protein phosphatase 1A;protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform;protein phosphatase 1a, magnesium dependent, alpha isoform;protein phosphatase 2C alpha isoform;protein phosphatase 2C isoform alpha;protein phosphatase IA APPROVED protein-coding ENSG00000100614 HGNC:9275 16199 606108 REVIEWED 3461318 PPM1AP1 protein phosphatase, Mg2+/Mn2+ dependent 1A, pseudogene 1 8 8 8 p22 14627428 14628805 - 15663434 15664812 - 15805925 15807303 - 137012 ABBA01021598;AC019292;AMYH02017508;NG_002692 pseudo HGNC:30175 INFERRED 1313581 PPL periplakin The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 5141279 5196514 - 4932508 4987136 - 4882507 4937135 - 1580863;6480464;8554872 10051401;10379702;11062259;11854008;12176997;12244133;12366696;12432088;12477932;12810704;12853457;14625392;15033990;15229321;15231748;15302935;15337775;15500642;15590649;15654952;16400690;16565220;16713569;17662978;18624398;18820940;19056867;19211270;20360068;20379614;20468064;21145461;21906983;21951621;22558309;22637743;22841549;23314748;23319000;8889548;9412476;9521878;9570964;9628581 5493 K7EKI8;K7EQ71;O60437 AB011140;ABBA01026789;ABBA01026790;ABBA01026791;ABBA01026792;AC027687;AF001691;AF013717;AF040999;AF041000;AF041001;AF041002;AF041003;AF041004;AK295623;AMYH02031329;AMYH02031330;AW582622;BC114620;BM673980;CH471112;CS673510;CS690893;FB665646;GM706858;NM_002705;XM_006720902 AAC17738;AAC39668;AAD17459;AAI14621;BAA25494;BAH12130;CAP07522;CAP11490;CAR97104;CAT82362;EAW85248;NP_002696;O60437;XP_006720965 Hs.192233 1690614;1847348;2150136;2154124 D16S3214;RH15620;RH65233;SHGC-60728 KIAA0568;MGC134872 190 kDa paraneoplastic pemphigus antigen;195 kDa cornified envelope precursor protein;OTTHUMP00000159922 APPROVED protein-coding ENSG00000118898 HGNC:9273 04187 602871 REVIEWED 1605707 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010] 15 15 15 q15.3 20596332 20621820 - 43825660 43882451 - 43533462 43590253 - 6480464 12477932;12825070;16110330;16344560;17412958;17690096;17702752;18029348;18636086;18981179;21139048;21222653;22939629;23300138;24816145;9205841 9677 B7WPL9;C9J490;C9J5E6;C9JZX6;F8W9A8;H0Y3Y5;H7C398;H7C436;Q6PFW1 AB002375;ABBA01038343;ABBA01038344;ABBA01038345;ABBA01149039;AC011330;AC019011;AF502586;AF502587;AF502588;AF502589;AF543190;AI214309;AI638651;AI656736;AK307438;AMYH02030308;AMYH02030309;AMYH02030310;AMYH02030311;AMYH02030312;AMYH02030313;AMYH02030314;AMYH02030315;AMYH02030316;AMYH02030317;AMYH02030318;AMYH02030319;AMYH02030320;AMYH02030321;AMYH02030322;AMYH02030323;BC035611;BC050263;BC057395;BX538022;BX647814;BX647870;CH471125;DB065605;DB228266;DQ102768;NG_022929;NM_001130858;NM_001130859;NM_001190214;NM_014659;XM_005254801;XM_005254802;XM_005254803;XM_005254804;XM_006720782;XM_006720783;XM_006720784;XM_006720785;XM_006720786;XM_006720787 AAH50263;AAH57395;AAN40768;AAP30842;AAP30843;AAP30844;AAP30845;AAZ78114;BAA20831;CAD97968;CAI46011;EAW92609;NP_001124330;NP_001124331;NP_001177143;NP_055474;Q6PFW1;XP_005254858;XP_005254859;XP_005254860;XP_005254861;XP_006720845;XP_006720846;XP_006720847;XP_006720848;XP_006720849;XP_006720850 Hs.156814;Hs.679911 1736786;1770686;1773019;1798666;1798732;1798734;1799040;1799332;1799382;1799510;1799726;1800032;1800122;1800292;1800328;1800376;1800438;1800528;1801416;1801524;1802982;1803224;1803294;1803342;1804038;1804224;1804910;1805302;1805428;1806784;1806786;1807314;1807794;1809112;1815774;1815996;1816670;1822134;1826204;1826290;1826370;1827006;1827546;1834186;1834470;1838714;1839558;1840756;1841724;1844988;1932718;1932720;1932722;1932724;1932726;1932728;1932730;1932732;1932734;1932736;1932738;1932740;1932742;1932744;1932746;1932748;1932750;1932752;1932754;1932756;1932758;1932760;1932762;1932764;1932766;1932768;1932770;1932772;1932774;1932776;1932778;1932780;1932782;1932784;1932786;1932788;1932790;1932792;1932794;1932796;1932798;1932800;1932802;1932804;1932806;1932808;1932810;1932812;1932814;1932816;1932818;1932820;1932822;1932824;1932826;1932828;1932830;1932832;1932834;1932836;1932838;1932840;1932842;1932844;1932846;1932848;1932850;1932852;1932854;1932856;1932858;1932860;1932862;1932864;1932866;1932868;1932870;1932872;1932874;1932876;1932878;1932880;1932882;1932884;1932886;1932888;1932890;1932892;1932894;1932896;1932898;1932900;1932902;1932904;1932906;1932908;1932910;1932912;1932914;1932916;1932918;1932920;1932922;1932924;1932926;1932928;1932930;1932932;1933174;1933176;1933178;1933180;2140490;2153279;2208822;2208824;2208826;2208828;2208830;2208832;2208834;2208836;2208838;2208840;2208862;2208864;2208874;2208876;2208878;2208880;2208966;2208968;2208970 A006R36;D15S778;D15S917;D15S956;ECD00173;ECD00206;ECD00207;ECD00365;ECD00515;ECD00541;ECD00606;ECD00717;ECD00871;ECD00917;ECD01004;ECD01022;ECD01047;ECD01079;ECD01124;ECD01582;ECD01640;ECD02381;ECD02504;ECD02543;ECD02567;ECD02935;ECD03034;ECD03390;ECD03597;ECD03661;ECD04352;ECD04353;ECD04627;ECD04871;ECD05544;ECD08925;ECD09038;ECD09378;ECD12153;ECD14213;ECD14257;ECD14298;ECD14618;ECD14889;ECD18241;ECD18383;ECD20534;ECD20961;ECD21569;ECD22060;ECD23710;REN37191;REN37192;REN37193;REN37194;REN37195;REN37196;REN37197;REN37198;REN37199;REN37200;REN37201;REN37202;REN37203;REN37204;REN37205;REN37206;REN37207;REN37208;REN37209;REN37210;REN37211;REN37212;REN37213;REN37214;REN37215;REN37216;REN37217;REN37218;REN37219;REN37220;REN37221;REN37222;REN37223;REN37224;REN37225;REN37226;REN37227;REN37228;REN37229;REN37230;REN37231;REN37232;REN37233;REN37234;REN37235;REN37236;REN37237;REN37238;REN37239;REN37240;REN37241;REN37242;REN37243;REN37244;REN37245;REN37246;REN37247;REN37248;REN37249;REN37250;REN37251;REN37252;REN37253;REN37254;REN37255;REN37256;REN37257;REN37258;REN37259;REN37260;REN37261;REN37262;REN37263;REN37264;REN37265;REN37266;REN37267;REN37268;REN37269;REN37270;REN37271;REN37272;REN37273;REN37274;REN37275;REN37276;REN37277;REN37278;REN37279;REN37280;REN37281;REN37282;REN37283;REN37284;REN37285;REN37286;REN37287;REN37288;REN37289;REN37290;REN37291;REN37292;REN37293;REN37294;REN37295;REN37296;REN37297;REN37298;REN37420;REN37421;REN37422;REN37423;RH15726;stSG627761;stSG627762;stSG627763;stSG627764;stSG627765;stSG627767;stSG627770;stSG627772;stSG627773;stSG627774;stSG627786;stSG627787;stSG627794;stSG627795;stSG627796;stSG627797;stSG627848;stSG627849;stSG627850 DKFZp313L0221;HISPPD2A;IP6K;IPS1;KIAA0377;MGC51871;VIP1;hsVIP1 IP6 kinase;OTTHUMP00000066120;OTTHUMP00000066121;OTTHUMP00000066122;OTTHUMP00000066123;OTTHUMP00000066263;OTTHUMP00000196869;VIP1 homolog;histidine acid phosphatase domain containing 2A;histidine acid phosphatase domain-containing protein 2A;inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1;inositol pyrophosphate synthase 1;insP6 and PP-IP5 kinase 1 APPROVED protein-coding ENSG00000168781 HGNC:29023 13798 610979 REVIEWED 737169 PPM1F protein phosphatase, Mg2+/Mn2+ dependent, 1F The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008] 22 22 22 q11.22 6091333 6124791 - 22273792 22307250 - 21919419 21952878 - 1580863;6480464;7241020;7794756 18454172;20801214 10348902;11559703;11864573;12477932;12539042;15140879;16169070;16344560;18839057;19322201;20016286;20379614;21139048;21656682;21906983;22079093;22144583;22268729;22743349;23621870;24250222;24338362;7584026;7584028;9074928 9647 A8MX49;B5MCT7;C9J2F3;C9JL74;P49593 ABBA01055075;AC245452;AF305840;AF520615;AK126377;AK291628;AK294557;AP000555;AU127806;BC071989;BC105599;CA425300;CH471095;D13640;D86995;DA311634;N34773;NM_014634 AAH71989;AAI05600;AAL15579;AAM76059;ACE86448;ACE87124;BAA02803;BAA19990;BAF84317;BAG54318;BAH11809;EAW59483;EAW59484;EAW59485;NP_055449;P49593 Hs.112728 1648451;1659759;1666423;1693600;1698264;2108877;2119034;2135212;2140311;2146549 A005T48;D22S1264;G10648;NIB721;PPM1F_8970;RH102668;RH25254;RH45391;SHGC-58507;STS-N27859 CAMKP;FEM-2;KIAA0015;POPX2;hFEM-2 Ca(2+)/calmodulin-dependent protein kinase phosphatase;CaM-kinase phosphatase;CaMKPase;OTTHUMP00000198593;OTTHUMP00000198594;OTTHUMP00000198595;PP2C phosphatase;partner of PIX 2;protein fem-2 homolog;protein phosphatase 1F;protein phosphatase 1F (PP2C domain containing) APPROVED protein-coding ENSG00000100034 HGNC:19388 10163 REVIEWED 733846 PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. [provided by RefSeq, Jul 2008] 2 2 2 p21 44234958 44300689 + 44395984 44471570 + 44168861 44234603 + 1580863;6480464;6907045;8554872 10480873;10580002;10934208;11104763;11524703;11563908;12045112;12477932;14585847;14702039;15489334;15913950;16872604;16884686;17207965;17353931;17620599;18654987;18829461;18930133;19294699;19379695;20379614;20462248;20538721;21139048;21906983;21942715;21988832;22053931;22169276;22268729;22393050;22750291;22939629;23000965;23084401;23320500;23398456;23438482;23443559;23563607;23756813;23903585;24654937;24674756;24816145;25027693;9684878 5495 B8ZZF0;C9JIR6;O75688 AA742374;AA769851;ABBA01075100;ABBA01075101;ABBA01075102;ABBA01075103;AC013717;AC019129;AF136972;AF294792;AJ005801;AJ271832;AJ271835;AK056009;AK291214;AL833035;AMYH02003707;BC012002;BC064381;BF979498;BQ773881;CH471053;DA128532;DQ023508;DQ023509;DQ023510;DQ023511;NG_011678;NM_001033556;NM_001033557;NM_002706;NM_177968;NM_177969 AAG02232;AAG49433;AAH12002;AAH64381;AAX88954;AAY89639;AAY89640;AAY89641;AAY89642;ADQ33189;BAF83903;BAG51602;CAA06704;CAC27992;CAC27993;CAH56319;EAX00280;EAX00281;EAX00282;EAX00283;NP_001028728;NP_001028729;NP_002697;NP_808907;NP_808908;O75688 Hs.416769 1680992;1789572;1797168;2138322;2168111;2172281;2191223;5024761 A004I37;D2S4020;MARC_16411-16412:1018631330:1;PPM1B;RH12314;RH36905;RH68945;RH93945 MGC21657;PP2C-beta-X;PP2CB;PP2CBETA;PPC2BETAX OTTHUMP00000158953;OTTHUMP00000158954;OTTHUMP00000158955;OTTHUMP00000202394;OTTHUMP00000202395;OTTHUMP00000202397;OTTHUMP00000202398;OTTHUMP00000202399;PP2C-beta;Ser/Thr protein phosphatase type 2C beta 2 isoform;protein phosphatase 1B;protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform;protein phosphatase 1b, magnesium dependent, beta isoform;protein phosphatase 2C isoform beta;protein phosphatase 2C-like protein APPROVED protein-coding ENSG00000138032 HGNC:9276 04796 603770 REVIEWED 1603861 PPM1J protein phosphatase, Mg2+/Mn2+ dependent, 1J This gene encodes the serine/threonine protein phosphatase. The mouse homolog of this gene apparently belongs to the protein phosphatase 2C family of genes. The exact function of this gene is not yet known. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 111483060 111488379 - 113252616 113257950 - 112709994 112715328 - 6480464 11007961;12477932;12633878;14654243;14702039;20379614;2557326 333926 Q5JR12;S4R3C3;S4R3I3 AB451327;AB451471;ABBA01068416;AK093270;AL133644;AL545356;AL603832;AMYH02001746;BC011803;BC064628;BC073828;NM_005167 AAH11803;AAH73828;ACE86828;ACE87514;BAG52679;BAG70141;BAG70285;CAB63764;NP_005158;Q5JR12 Hs.655231 1341347;1759659 D1S2756;SHGC-150726 DKFZp434P1514;FLJ35951;MGC19531;MGC90149;PP2CZ;PP2Czeta;PPP2CZ;RP11-426L16.5 OTTHUMP00000013810;PP2C-zeta;protein phosphatase 1J;protein phosphatase 1J (PP2C domain containing);protein phosphatase 2C isoform zeta;protein phosphatase 2C zeta;protein phosphatase 2a, catalytic subunit, zeta isoform APPROVED protein-coding ENSG00000155367 HGNC:20785 15171 609957 REVIEWED 732734 PPM1G protein phosphatase, Mg2+/Mn2+ dependent, 1G The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. [provided by RefSeq, Apr 2010] 2 2 2 p23.3 27450727 27478104 - 27604066 27632550 - 27381199 27409683 - 1580863;6480464;8554872 12477932;14663150;15489334;16169070;16344560;17054950;17074886;17215244;17572683;17984321;18029348;18406329;18781797;19471022;19538940;19615732;20468071;21044950;21139048;21693764;21890473;21900206;21903422;21906983;21963094;21988832;22190034;22361354;22412018;22505724;22586326;22863883;22939629;22990118;23000965;23281010;23402259;23505323;23814053;24316072;24778252;24816145;25027693;9271424;9276438;9887102 5496 O15355;Q6IAU5 AB209197;ABBA01045203;ABBA01045204;ABBA01045205;AC074117;AI623188;AI879284;AK127593;AK293141;AK312455;AMYH02003476;BC000057;BC007361;BC014386;BC015048;BC022061;BT007454;CH471053;CR457059;DA520893;NM_177983;Y13936 AAH00057;AAH07361;AAH14386;AAH22061;AAP36122;AAY14846;ABM83076;ABM86272;BAD92434;BAG35362;BAG54530;BAG56689;CAA74245;CAG33340;EAX00582;NP_817092;O15355 Hs.643951 1712128;1712164;1728995;2110669;2185881;5015961;5022651;5037552 D11S2921;D15S1477;D8S2279;G54114;PPM1G_7857;Ppm1g;RH48963;UniSTS:109369 MGC1675;MGC2870;PP2CG;PP2CGAMMA;PPP2CG OTTHUMP00000123426;PP2C, gamma;PP2C-gamma;protein phosphatase 1C;protein phosphatase 1G;protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform;protein phosphatase 2, catalytic subunit, gamma isoform;protein phosphatase 2C gamma isoform;protein phosphatase 2C isoform gamma;protein phosphatase magnesium-dependent 1 gamma APPROVED protein-coding ENSG00000115241 HGNC:9278 09237 605119 REVIEWED 1319913 PPM1H protein phosphatase, Mg2+/Mn2+ dependent, 1H ENCODES a protein that exhibits phosphoprotein phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; 8-bromo-3',5'-cyclic AMP 12 12 12 q14.1 62706254 62997164 - 63037762 63328665 - 62643982 62934885 - 1580863;6480464;8554872 10574461;12477932;14702039;16344560;18059182;20379614;20659327;20732627;20966902;22586611;23251661;24255178;24816145;9770338 57460 Q9ULR3 AB032983;AB084258;ABBA01026625;ABBA01026626;ABBA01026627;ABBA01026628;ABBA01026629;AC023359;AC025264;AC048341;AC078814;AK023315;AMYH02026637;AMYH02026638;AMYH02026639;AMYH02026640;AMYH02026641;AMYH02026642;AMYH02026643;BC040177;BC157843;CH471054;DA396561;NM_020700 AAI57844;AAI60095;BAA86471;BAG16181;EAW97112;NP_065751;Q9ULR3 Hs.435479 1340197;1648930;1662113;1667806;1670503;1746131;1746133;1746137;1746585;1782802;1791846;1795102;1849158;1849697;2128702;2160396;5015961;5037552;7184943 A006R05;D12S1276;D12S1437;D12S2035;D12S2118;D12S2134;D12S329;D12S862;D15S1477;D8S2279;G64391;G64392;G64493;G64494;PMC128021P1;PMC97911P1;SHGC-85771;STS-T79956 ARHCL1;FLJ13253;KIAA1157;NERPP-2C;URCC2 OTTHUMP00000242573;neurite extension-related protein phosphatase related to PP2C;protein phosphatase 1H;protein phosphatase 1H (PP2C domain containing);ras homolog gene family, member C like 1 APPROVED protein-coding ENSG00000111110 HGNC:18583 616016 VALIDATED 1353112 PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012] 4 4 4 q22.1 86477986 86502345 - 89178761 89205983 - 88257609 88284831 - 737633;6480464 12477932 14702039;15489334;15815621;16685424;17207965;17336929;17374715;18029348;18846501;18854154;18987618;20877624;21988832;22286219;22291014;22916037;23446828;24250222;9847074 152926 Q8N3J5;V9GY69;V9GYI6;V9GYS8;V9GYZ5 ABBA01063547;AC097484;AC107067;AC108213;AF351614;AK054678;AK092450;AK314417;AL834167;AL834271;AMYH02009690;AX766363;AY157615;AY435431;AY994097;BC020850;BC037552;BC041350;CH471057;HY120304;NG_032931;NM_152542;XM_005262775;XM_006714111;Z69892 AAH20850;AAH37552;AAH41350;AAN76514;AAO17296;AAR06213;AAX77016;AAY41021;ADQ32298;BAB70790;BAG37038;CAD38869;CAD38946;CAE00325;EAX06014;EAX06015;EAX06016;NP_689755;Q8N3J5;XP_005262832;XP_006714174 Hs.43744 1655159;1660816;1672522;2115698;2120879;2154424;2166894;5014051;5015404;5015621;5015861;5016478;5016596;5020274;5022463;5022578;5022649;5022651;5037552;5109281;5111386;7185938 20;D10S16;D11S2875;D11S2921;D11S3732;D1S1423;D1S1425;D3S1673;D4S905;D8S2278;D8S2279;GDB:434012;GDB:631802;L17705;L18441;SHGC-24822;SHGC-36508;STS-AA017240;STS-F04960;STS-M61964;STS-N22865 BDP;DKFZp667B084;DKFZp761G058;MSUDMV;PP2C-kappa;PP2Ckappa;PP2Cm;PTMP;UG0882E07;hPTMP OTTHUMP00000161565;OTTHUMP00000219606;PP2C domain-containing protein phosphatase 1K;PP2C type mitochondrial phosphatase;PP2C-like mitochondrial protein;PP2C-like protein;PP2C-type mitochondrial phosphoprotein phosphatase;branched-chain alpha-ketoacid dehydrogenase phosphatase;branched-chain α-ketoacid dehydrogenase phosphatase;protein phosphatase 1K (PP2C domain containing);protein phosphatase 1K, mitochondrial;protein phosphatase 2C isoform kappa;protein phosphatase 2C kappa APPROVED protein-coding ENSG00000163644 HGNC:25415 15167 611065;615135 REVIEWED 1313498 PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008] 17 17 17 q23.2 57778184 57842819 + 58677544 58743641 + 60600183 60666280 + 1599171;1580863;6480464;6484113;6907045;7240710;7240533;8699517;8661232;8661242 12021784;20626350;21533982;24002223 11101524;11101529;11809801;12021785;12185196;12477932;12878157;14702039;15054481;15327777;15489334;15807522;15870257;16254685;16311512;16314645;16352595;16798742;16897432;16912047;16936775;16949371;17016428;17685927;17936559;17939684;17977650;18328948;18482988;18845566;18991770;19015127;19377466;19435816;19713933;20007970;20093361;20101220;20118229;20301425;20367961;20379614;20460517;20543821;20668064;21139048;21281403;21283629;21336731;21695702;21734451;21890473;21906983;21927021;22115592;22145905;22201816;22325093;22340722;22379189;23146903;23242139;23255129;23306038;23314748;23556002;23612976;23649806;23679302;23745790;23871434;23906386;23907125;23907458;24135283;24250222;24262437;24272082;24395919;24711418;24880341;24922655;7566098;7649987;9177166 8493 K7EJH1;O15297 AA326266;ABBA01035404;ABBA01035405;ABBA01035406;ABBA01035407;ABBA01035408;AC011921;AC110602;AC111155;AK054573;AK299773;AK312902;AMYH02033724;AMYH02033725;AU280469;BC016480;BC032826;BC033893;BC042418;BC060877;BT009780;BU616782;CH471179;NG_023265;NM_003620;U78305 AAB61637;AAH16480;AAH33893;AAH42418;AAH60877;AAP88782;ABM81973;ABW03353;BAG35748;BAG61656;EAW51408;EAW51409;NP_003611;O15297 Hs.286073 1697888;2133240;5037552 D8S2279;RH102472;SHGC-53722 PP2C-DELTA;WIP1 p53-induced protein phosphatase 1;protein phosphatase 1D;protein phosphatase 1D magnesium-dependent, delta isoform;protein phosphatase 2C delta isoform;protein phosphatase 2C isoform delta;protein phosphatase Wip1;protein phosphatase magnesium-dependent 1 delta;wild-type p53-induced phosphatase 1 APPROVED protein-coding ENSG00000170836 HGNC:9277 05482 114480;605100 REVIEWED 1604993 PPM1N protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) ENCODES a protein that exhibits catalytic activity (inferred); magnesium ion binding (inferred); manganese ion binding (inferred); INVOLVED IN dephosphorylation (inferred); metabolic process (inferred); INTERACTS WITH arsenite(3-); copper(2+) sulfate; fonofos 19 19 19 q13.32 42807837 42811874 + 46001731 46005768 + 45498473 45502510 + 6480464 12477932;14702039;18976975 147699 A8MXX7;B5MCQ2;E7ENL9;H7C347;Q8N819 ABBA01040932;AC138534;AK097444;AMYH02036200;BC028228;BC062452;CH471126;NM_001080401;XR_243901 AAH28228;AAH62452;BAC05056;EAW57360;NP_001073870;Q8N819 Hs.532872 1686142;1695344 RH76054;SHGC-64776 FLJ40125 OTTHUMP00000179174;OTTHUMP00000179175;OTTHUMP00000201830;OTTHUMP00000201831;OTTHUMP00000201832;OTTHUMP00000201834;probable protein phosphatase 1B-like;probable protein phosphatase 1N;protein phosphatase 1B-like APPROVED protein-coding HGNC:26845 08270 PROVISIONAL 1605082 PPME1 protein phosphatase methylesterase 1 This gene encodes a protein phosphatase methylesterase localized to the nucleus. The encoded protein acts on the protein phosphatase-2A catalytic subunit and supports the ERK pathway through dephosphorylation of regulatory proteins. It plays a role in malignant glioma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 11 11 11 q13.4 71189163 71272541 + 73881936 73965748 + 74170891 74254703 + 6480464 10318862;12477932;12665801;14702039;15489334;16344560;17803990;18782753;19156129;19293187;20360068;21139048;21398589;21906983;22443683;22732552;22863883;22939629;23000965;24250222;24253382;8125298 51400 F5H2D4;Q9Y570 ABBA01017493;ABBA01017494;AF111853;AF157028;AK001381;AK022725;AK025414;AK025879;AK095005;AK123288;AK225647;AMYH02025103;AMYH02025104;AP000577;AP002392;BC003046;BC050705;BX537528;CH471076;DA691258;DA824678;NM_001271593;NM_016147;XR_428916 AAD44976;AAF16692;AAH03046;AAH50705;ABM83274;ABM86704;BAA91661;BAC85574;BAG51108;EAW74932;NP_001258522;NP_057231;Q9Y570 Hs.503251 1646256;1666107;1718491;1854049;2160591;2167384;2177979;2189499;7186533 D11S2056;D11S2257E;D11S3971;MARC_7583-7584:992008525:1;RH11842;RH122448;SGC34863;STS-T95088 FLJ22226;PME-1 OTTHUMP00000237973;OTTHUMP00000237974;protein phosphatase methylesterase-1 APPROVED protein-coding ENSG00000214517 HGNC:30178 17864 611117 REVIEWED 1321506 PPOX protoporphyrinogen oxidase This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q22 134203334 134208163 + 161135832 161148136 + 161166391 161177098 + 1599172;1599174;1599176;1599180;1580863;1578396;4145363;4145271;4144542;4145281;6480464;6907045;7240710;8554872;8699517 10486317;11929050;16839620;3663105;8563760;8852667;9254745;9431441 10457135;10756096;10870850;11286631;11298551;11350188;12017191;12357337;12477932;12556518;12922165;14535846;14669009;14702039;15231747;15489334;16169070;16621625;16947091;18191920;18624398;19229653;19656455;19656457;20877624;21048046;21139048;21910705;23324528;23409300;23467411;23601071;7713909;8288631;8554330;8575762;8673113;8771201;8806618;9003509;9074790;9763307;9811936 5498 B3KT30;B4DQQ7;B4DY76;F5GZT7;F5H1I5;F5H825;H0YFE1;H0YFP3;P50336 ABBA01016596;AF215863;AF215864;AF321821;AI357309;AK094855;AK298912;AK302298;AL590714;AMYH02002032;AU076582;AY032687;AY032688;BC002357;BX384814;CH471121;D38537;DC329287;NG_012877;NM_000309;NM_001122764;U26446;XM_005245291;XM_005245295;XM_006711402;XM_006711403;XM_006711404;XM_006711405;XM_006711406 AAA67690;AAG43994;AAG43995;AAH02357;AAK50375;AAK50376;AAK69607;ABM83141;ABM86337;BAA07538;BAG52942;BAG61019;BAG63638;EAW52635;EAW52636;EAW52637;EAW52638;EAW52639;EAW52640;EAW52641;NP_000300;NP_001116236;P50336;XP_005245348;XP_005245352;XP_006711465;XP_006711466;XP_006711467;XP_006711468;XP_006711469 Hs.517373 1652326;1685530;1694586;1729077;1848835;2145731;2146481;2150332;5037746 A001T06;D1S3696;G43283;NIB1690;Ppox;RH11845;RH15837;RH71218;RH8143 MGC8485;PPO;V290M;VP OTTHUMP00000032237;OTTHUMP00000032238 APPROVED protein-coding ENSG00000143224 HGNC:9280 02953 176200;600923 REVIEWED 732541 PPP1CA protein phosphatase 1, catalytic subunit, alpha isozyme The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13 64498838 64502559 - 67165652 67169376 - 67398181 67401905 - 737728;1580722;1580723;2304267;2304325;6480464;6484113;6907045;7794757 10811615;11551964;12024026;14715909;21782450;7720853 10087003;10194355;10209101;10358086;10504266;10571067;10637318;10807923;10827081;10830164;10880350;10995432;11076525;11101529;11390485;11564868;11588169;11739654;11799244;11839776;11959144;12016208;12036313;12036952;12052871;12052877;12065664;12115603;12138106;12147701;12221103;12226088;12370081;12393858;12410313;12434308;12438214;12477932;12574161;12624094;12724406;12788939;12788942;12914669;12925532;12926989;12931191;14505491;14645548;14702039;15107502;15231748;15303970;15489334;15492829;15635413;15761153;16048649;16131488;16550609;16564677;16582606;16619035;16874461;17030510;17202132;17266553;17274640;17314511;17318175;17332742;17374523;17435217;17511879;17630778;17643375;17683050;17965019;18160256;18362886;18483222;18716057;18781797;18949366;18992256;19074462;19094064;19364819;19389623;19622840;19710015;19738201;19826001;19919952;19945436;20186153;20360068;20424263;20498639;20516061;20663907;20671031;20941529;21081666;21106093;21139048;21145461;21182205;21189257;21308747;21351466;21360054;21382349;21427225;21566083;2161401;21706016;21853274;21865402;21890473;21906983;21909427;21963094;21987572;22053931;22242915;22284538;22299668;22311981;22321011;22360570;22365833;22479341;22479519;22505724;22586326;22623428;22767595;22768081;22815811;22863883;22939629;22940584;22990118;23000965;23061666;23166591;23176181;23197154;23277204;23455922;23499489;24116158;24156551;24255178;24550385;24574500;24816145;24956593;25015289;25027693;25056273;4092695;6087160;7736790;8384581;8392016;8749392;8889548;9108011;9269769;9282913;9461602;9843442 5499 E9PMD7;F5H037;F5H1L6;P62136 ABBA01024035;ABBA01024036;AK098311;AK127616;AK313586;AL557336;AMYH02024994;AP003419;BC001888;BC004482;BC008010;BE278068;BE793459;BF526659;BG480286;BM799599;BM982080;BT006629;CH471076;J04759;M63960;NM_001008709;NM_002708;NM_206873;S57501;X70848 AAA36475;AAA36508;AAB26015;AAH01888;AAH04482;AAH08010;AAP35275;BAG36355;BAG54534;CAA50197;EAW74607;EAW74608;EAW74609;EAW74610;NP_001008709;NP_002699;NP_996756;P62136 Hs.183994 1657336;2108381;5096575;5120151 GDB:197566;PPP1CA;PPP1CA_7858;RH45249 MGC15877;MGC1674;PP-1A;PP1A;PP1alpha;PPP1A OTTHUMP00000236398;OTTHUMP00000236399;OTTHUMP00000236400;OTTHUMP00000236401;protein phosphatase 1, catalytic subunit, alpha isoform;serine/threonine protein phosphatase PP1-alpha 1 catalytic subunit;serine/threonine-protein phosphatase PP1-alpha catalytic subunit APPROVED protein-coding ENSG00000172531 HGNC:9281 15942 176875 REVIEWED 1344877 PPP1R10P1 protein phosphatase 1, regulatory subunit 10 pseudogene 1 11 11 11 q24.3 127828012 127829658 - 130659124 130660770 - 130789229 130790875 - 11948623 100422381;94296 ABBA01023046;AMYH02025794;AP003486;NG_024439 PPP1R10P APPROVED pseudo HGNC:16325 INFERRED 731669 PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 2 2 2 p23 28820144 28871300 + 28974614 29025806 + 28751748 28802940 + 2304267;2304325;6480464;6907045;7794757;8554872 14715909;21782450;7720853 10194355;10209101;10830164;10906760;11076863;11230166;11399775;11513739;11551964;11564868;11790298;12016208;12036313;12147701;12185196;12226088;12410313;12477932;12665801;12775419;12788939;14640981;15164081;15231748;15302935;15489334;15489336;15815621;15851553;16048649;16131488;16196087;16256067;16341674;16381901;16712791;17022978;17266553;17274640;17353931;17369396;17511879;18202305;18586956;18781797;19124506;19199708;19322201;20133760;20186153;20360068;20424263;20516061;20962268;21139048;21145461;21351466;21360054;21466834;21566083;21566537;21795688;21890473;21906983;21963094;21987572;22053931;22284538;22299668;22360570;22505724;22586326;22728334;22768081;22863883;22939629;23000965;23168335;23197154;23277204;23382248;23398456;24250222;24457600;24785407;24816145;25027693;7796987;7857673;8312365;8889548;9009195;9570949 5500 C9J9S3;C9JP48;E7ETD8;F8WE71;H0Y3Y6;P62140;V9HW04 ABBA01045237;ABBA01045238;ABBA01045239;AC097724;AF092905;AI147919;AK295957;AK303682;AK312329;AK316532;AMYH02003498;BC002697;BC012045;BE047402;BI551898;BM835970;BQ933435;BT019744;BU740022;BX477003;BX647295;BX647970;CB111140;CD656807;CD722576;CH471053;CR542263;CR542285;EU668339;NM_002709;NM_206876;U11005;X80910 AAA85093;AAF01137;AAH02697;AAH12045;AAV38549;AAY24124;ACF94492;BAG35251;BAG58737;BAG64675;BAH14903;CAA56870;CAG47059;CAG47080;CAL37650;EAX00527;EAX00528;EAX00529;EAX00530;NP_002700;NP_996759;P62140 Hs.702907 1336442;1667422;1853613;2125038;2182191;2190523;2217808;7184981 D2S392;D6S1941;EST16D1;PPP1CB_3843;RH69523;SHGC-33158;STS-W67887 HEL-S-80p;MGC3672;PP-1B;PP1B;PP1beta;PPP1CD OTTHUMP00000200967;OTTHUMP00000200968;epididymis secretory sperm binding protein Li 80p;protein phosphatase 1, catalytic subunit, beta isoform;protein phosphatase 1, catalytic subunit, delta isoform;protein phosphatase 1-beta;protein phosphatase 1-delta;serine/threonine protein phosphatase PP1-beta catalytic subunit;serine/threonine-protein phosphatase PP1-beta catalytic subunit APPROVED protein-coding ENSG00000213639 HGNC:9282 11792 600590 REVIEWED 1602186 PPM1M protein phosphatase, Mg2+/Mn2+ dependent, 1M ENCODES a protein that exhibits CTD phosphatase activity (ortholog); manganese ion binding (ortholog); INVOLVED IN protein dephosphorylation (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH 17beta-estradiol; 2-methylcholine; cobalt dichloride 3 3 3 p21.2 52259536 52263926 + 52279782 52284615 + 52245766 52250599 + 6480464 12477932;14654243;14702039;15489334;16344560;19594441;21926972;22182935;23974872 132160 B7XGB9;F8W976;H7C3K4;H7C3S3;Q96MI6 AA829740;AB474372;ABBA01024510;AC006252;AI141068;AK056894;AK096681;AK129647;AL832484;AMYH02006799;BC009644;BF516133;CH471055;DA869388;DB479638;NM_001122870;NM_144641;XM_005264879;XM_005264880;XM_005264881 AAH09644;ADZ15810;BAB71302;BAC04839;BAC85206;BAH03578;EAW65197;EAW65198;EAW65199;EAW65200;EAW65201;NP_001116342;NP_653242;Q96MI6;XP_005264936;XP_005264937;XP_005264938 Hs.373560;Hs.731914 1690436;2168339;2169162;5491489 A002C09;MARC_15661-15662:1016643799:1;RH12810;RH76369 FLJ32332;PP2C-eta;PP2CE;PP2Ceta OTTHUMP00000202995;OTTHUMP00000202996;OTTHUMP00000202997;protein phosphatase 1M;protein phosphatase 1M (PP2C domain containing);protein phosphatase 2C eta;protein phosphatase 2C eta-2;protein phosphatase 2C isoform eta APPROVED protein-coding ENSG00000164088 HGNC:26506 12350 608979 VALIDATED 1349677 PPP1R11P1 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 1 1 1 p36.12 21724486 21724857 + 21397993 21398364 + 11948623 94297 ABBA01059810;AL365182;AMYH02000451;NG_030207 pseudo HGNC:16326 INFERRED 734001 PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme The protein encoded by this gene belongs to the protein phosphatase family, PP1 subfamily. PP1 is an ubiquitous serine/threonine phosphatase that regulates many cellular processes, including cell division. It is expressed in mammalian cells as three closely related isoforms, alpha, beta/delta and gamma, which have distinct localization patterns. This gene encodes the gamma isozyme. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 12 12 12 q24.1-q24.2 110784396 110807538 - 111157613 111180783 - 110709016 110742978 - 1580863;2304325;6480464;6484113;6907045;7241020 14715909;18454172 10194355;10209101;10391935;10637318;10807923;10830164;10880350;11104670;11551964;11564868;11588169;11739654;11790298;11856740;12016208;12036313;12036952;12138106;12147701;12221103;12226088;12374792;12410313;12477932;12567184;12624094;12788939;14640981;14670976;15028637;15231748;15489334;15635413;16048649;16131488;16201749;16343532;16344560;16826568;17215279;17266553;17274640;17511879;17683050;17936702;17965019;17996206;18540044;18781797;19070599;19074462;19250647;19322201;19369647;19454010;20305087;20360068;20424263;20516061;20697350;20733005;20948546;21110914;21139048;21145461;21351466;21360054;21382349;21397856;21566083;21706016;21723128;21750233;21832049;21890473;21903422;21906983;21963094;21987572;21988832;22053931;22118674;22268729;22454514;22505724;22586326;22641346;22768081;22863883;22939629;22990118;23000965;23080069;23088536;23176181;23197154;23277204;23401853;23402259;23499489;23583979;23891004;24196533;24332808;24558042;24586659;24654937;24816145;25027693;7499293;7500362;7556599;8111128;8119416;8394140;8549741;8914631;9009195;9414128;9606212 5501 B4DNE3;F8VR82;F8VYE8;F8W0V8;F8W0W8;F8W1A0;P36873 AA781342;AB030255;ABBA01005117;AC144522;AK297882;AMYH02027191;AW575661;BC014073;CH471054;DA472620;DA514523;L07395;NG_030325;NM_001244974;NM_002710;X74008;XM_006719469 AAA19823;AAH14073;ACE86748;ACE87434;ADZ16058;BAA82664;BAG60205;CAA52169;EAW97938;EAW97939;EAW97940;NP_001231903;NP_002701;P36873;XP_006719532 Hs.79081 1650934;1663691;1695266;2183151;2187247 D12S1327;D12S2097;RH48038;SHGC-62982;UniSTS:76224 PP-1G;PP1C;PP1gamma;PPP1G OTTHUMP00000241460;OTTHUMP00000241461;OTTHUMP00000241465;OTTHUMP00000241466;OTTHUMP00000241467;protein phosphatase 1, catalytic subunit, gamma isoform;protein phosphatase 1C catalytic subunit;serine/threonine phosphatase 1 gamma;serine/threonine-protein phosphatase PP1-gamma catalytic subunit APPROVED protein-coding ENSG00000186298 HGNC:9283 08911 176914 REVIEWED 732967 PPP1R10 protein phosphatase 1, regulatory subunit 10 This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 6 p21.3 32166300 32183138 - 30568177 30585084 - 30600400 30618607 - 633715;6480464 9461602 10637318;12477932;12574161;12914669;14574404;15203218;15231748;15576338;15894402;15907195;16009940;16196087;16964243;17000644;17081983;17318220;18360108;18781797;19293638;19429178;19596686;19851445;20360068;20372802;20516061;20890310;21139048;21890473;21987572;22678362;22939629;23110726;23117887;23537643;24250222;24332808;24591642;24654937;8838313;8889548;9450550;9784381 5514 Q2L6I0;Q96QC0 AB088097;AB103603;AB202094;ABBA01038051;AJ544537;AK307406;AL662800;AL662825;AMYH02013437;BA000025;BC005267;BC136294;BC150310;BU681199;BX119957;BX248507;BX908728;CD615451;CH471081;CR753328;CR759778;NM_002714;NR_072994;XM_006715130;XM_006715131;XM_006715132;XM_006715133;XM_006725489;XM_006725490;XM_006725491;XM_006725492;XM_006725703;XM_006725704;XM_006725705;XM_006725706;XM_006725820;XM_006725821;XM_006725822;XM_006725823;XM_006725912;XM_006725913;XM_006725914;XM_006725915;XM_006726005;XM_006726006;XM_006726007;XM_006726008;XM_006726100;XM_006726101;XM_006726102;XM_006726103;Y13247 AAH05267;AAI36295;BAB63324;BAC54929;BAE78613;BAF31264;CAA73697;CAD67521;EAX03303;NP_002705;Q96QC0;XP_006715193;XP_006715194;XP_006715195;XP_006715196;XP_006725552;XP_006725553;XP_006725554;XP_006725555;XP_006725766;XP_006725767;XP_006725768;XP_006725769;XP_006725883;XP_006725884;XP_006725885;XP_006725886;XP_006725975;XP_006725976;XP_006725977;XP_006725978;XP_006726068;XP_006726069;XP_006726070;XP_006726071;XP_006726163;XP_006726164;XP_006726165;XP_006726166 Hs.106019 1703170;1710528;1743225;1748399;1850948;1852297;2111174;2217810;5120888;5123360 A007C28;D17Ertd808e;D6S484E;GDB:305493;PPP1R10_1061;RH16237;RH18166;SGC32149;SGC34051;SHGC-86293 CAT53;FB19;PNUTS;PP1R10;R111;p99 HLA-C associated transcript 53;MHC class I region proline-rich protein CAT53;OTTHUMP00000029381;PP1-binding protein of 114 kDa;phosphatase 1 nuclear targeting subunit;phosphatase nuclear targeting subunit;protein phosphatase 1 regulatory subunit 10;protein phosphatase 1, regulatory (inhibitor) subunit 10;putative protein phosphatase 1 nuclear targeting subunit;serine/threonine-protein phosphatase 1 regulatory subunit 10 APPROVED protein-coding ENSG00000204569 HGNC:9284 04797 603771 REVIEWED 1345523 PPP1R11P2 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 2 X X X p11.21 61109891 61110272 + 57255467 57255848 + 57229034 57229415 + 11948623 94298 ABBA01069341;AMYH02039533;NG_009575;Z83745 pseudo HGNC:16327 INFERRED 1350582 PPP1R11 protein phosphatase 1, regulatory (inhibitor) subunit 11 This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31633185 31636363 + 30034932 30038110 + 30066694 30070333 + 1580863;6480464;8554872 12477932;14574404;15489334;15592455;16712791;17081983;17353931;17630778;18450750;18951879;19115949;19851445;20360068;22286219;22641346;23453885;24250222;24489884;24816145;7782091;8490624;8619474;8781118;8938444;9110174;9843442 6992 A2BEK1;O60927;Q5SRK2 AB088087;AB202082;ABBA01038041;AF070599;AK310593;AK313175;AL669914;AL671859;AL845439;AMYH02013426;BA000025;BC003144;BC102010;BC102011;BC104750;BX088647;BX927229;CB126242;CH471081;CR388205;CR759763;CR759960;NM_021959;U53588;X81003;X89902;XM_005275158;XM_006715174;XM_006725042;XM_006725499;XM_006725713;XM_006725921;XM_006726016;XM_006726110 AAC52082;AAH03144;AAI02011;AAI02012;AAI04751;BAB63334;BAC54919;BAE78601;BAG35992;CAC16919;CAC16920;EAX03253;EAX03254;NP_068778;O60927;XP_005275215;XP_006715237;XP_006725105;XP_006725562;XP_006725776;XP_006725984;XP_006726079;XP_006726173 Hs.82887 1856520;2108879;2160358 G29206;PPP1R11_1755.2;STS-W44579 HCG V;HCG-V;HCGV;IPP3;MGC125741;MGC125742;MGC125743;TCTE5;TCTEX5 OTTHUMP00000029382;hemochromatosis candidate gene V protein;inhibitor-3;protein phosphatase 1 regulatory subunit 11;protein phosphatase 1, regulatory (inhibitor) subunit 11, isoform 1;protein phosphatase inhibitor 3;t-complex-associated-testis-expressed 5 APPROVED protein-coding ENSG00000204619 HGNC:9285 09449 606670 REVIEWED 1313118 PPM1L protein phosphatase, Mg2+/Mn2+ dependent, 1L PPM1L, or PP2CE, belongs to the PP2C group of serine/threonine phosphatases, which are distinguished from other phosphatases by their structure, absolute requirement for Mg(2+) or Mn(2+), and insensitivity to okadaic acid. PP2Cs regulate stress-activated protein kinase (SAPK; see MIM 601158) signaling cascades that respond to extracellular stimuli (Jin et al., 2004 [PubMed 15560375]).[supplied by OMIM, Apr 2008] 3 3 3 q26.1 158896208 159211045 + 160473996 160788817 + 160755590 161071029 + 6480464;8554872 12477932;12556533;14702039;15560375;16895911;17456047;18165232;19199708;19240061;19847890;20379614;22446961;22796112 151742 Q5SGD2 ABBA01058790;ABBA01058791;ABBA01058792;AC016920;AC021649;AC069224;AC117413;AK055115;AMYH02008025;AMYH02008026;AMYH02008027;AMYH02008028;AMYH02008029;AY337264;BC090872;BC104885;BC104887;BC110801;CH471052;NM_139245;XM_006713507 AAI04886;AAI04888;AAR00269;BAB70856;EAW78626;NP_640338;Q5SGD2;XP_006713570 Hs.389027 1335236;1335836;1650346;1695850;1709532;1720947;1750027;1751039;1755761;1765577;1784890;2182170 D3S1543;D3S3059;D3S3579;G59303;SHGC-104992;SHGC-111719;SHGC-142611;SHGC-149038;SHGC-77498;SHGC-78467;SHGC-78794;SHGC-81842 MGC132545;MGC132547;PP2C-epsilon;PP2CE;PPM1-LIKE OTTHUMP00000213918;OTTHUMP00000213920;OTTHUMP00000213921;PP2C epsilon;Protein phosphatase 2C epsilon isoform;protein phosphatase 1 (formerly 2C)-like;protein phosphatase 1-like;protein phosphatase 1L;protein phosphatase 2C isoform epsilon APPROVED protein-coding HGNC:16381 17889 611931 PROVISIONAL 1603486 PPP1R12BP1 protein phosphatase 1, regulatory subunit 12B pseudogene, Y-linked 1 Y Y Y q11.23 1 2475 - 28423970 28494825 - 26277823 26348678 - 12815422 360021 AC024067;NG_004755 1790145;2187879;5022955;5115980;5116728;5116730;5116732;5116734;5116736;5116776;5116778 G65925;sY1201;sY1771;sY1772;sY3151;sY3152;sY3153;sY3154;sY3155;sY3177;sY3178 PPP1R12BP;PPP1R12BPY1 APPROVED pseudo HGNC:18498 VALIDATED 2881601 PPP1R12BP2 protein phosphatase 1, regulatory subunit 12B Y-linked pseudogene 2 Y Y q11.223 25525529 25538944 + 23379382 23392797 + 12815422 360020 AC006983;NG_004755 5116728;5116730 sY3151;sY3152 APPROVED pseudo HGNC:23970 VALIDATED 1351604 PPP1R12CP protein phosphatase 1, regulatory (inhibitor) subunit 12C pseudogene 11948623 114239 HGNC:16409 1345826 PPP1R13AP protein phosphatase 1, regulatory (inhibitor) subunit 13A pseudogene 11948623 94299 HGNC:16328 1343542 PPP1R12C protein phosphatase 1, regulatory subunit 12C The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] 19 19 19 q13.42 52642307 52667863 - 55602281 55628968 - 55090913 55117600 - 6480464 11399775;12477932;12923170;14506264;15469989;16169070;16243315;18854154;20360068;21078624;21988832;22137581;24785407;24829354 54776 B4DME2;K7EL81;K7ER83;Q9BZL4 AA551617;AB209452;ABBA01068127;ABBA01068128;AC005782;AC010327;AF211968;AF312028;AK027086;AK129529;AK297187;AK297426;AL137618;AMYH02036451;AMYH02036452;BC008030;BC010628;CH471135;HY013088;NM_001271618;NM_017607;XM_005259013 AAG60045;AAH08030;AAI56296;BAB15651;BAC85179;BAD92689;BAG59676;BAG59854;CAB70844;EAW72332;EAW72333;EAW72334;EAW72335;NP_001258547;NP_060077;Q9BZL4;XP_005259070 Hs.631579 1791306;1791334 PMC102077P1;PMC104024P1 DKFZp434D0412;LENG3;MBS85;p84;p85 leukocyte receptor cluster (LRC) encoded novel gene 3;leukocyte receptor cluster (LRC) member 3;myosin-binding subunit 85;protein phosphatase 1 myosin-binding subunit of 85 kDa;protein phosphatase 1 myosin-binding subunit p85;protein phosphatase 1 regulatory subunit 12C;protein phosphatase 1, regulatory (inhibitor) subunit 12C APPROVED protein-coding ENSG00000125503 HGNC:14947 11452 613245 REVIEWED 1319551 PPP1R12B protein phosphatase 1, regulatory subunit 12B Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two isoforms of MYPT have been isolated--MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different isoforms have been identified. Related pseudogenes have been defined on the Y chromosome. [provided by RefSeq, Oct 2011] 1 1 1 q32.1 175441739 175684836 + 202317830 202557697 + 202348702 202588569 + 1580863;6480464;8554872 10087910;10200412;10567269;11067852;12477932;12923170;14702039;15489334;16344560;16431080;16710414;16751776;18029348;18782776;19851296;20198315;20360068;20379614;20801872;21145461;23251661;23398456;23443559;23640410;23936387;24778558;24785407;24816145;9269769;9455484;9570949;9827534 4660 E1CKY7;H7C4R6;O60237;Q6GQY8 AB003062;AB007972;AB050641;AB050642;AB588820;ABBA01027500;ABBA01027501;ABBA01027502;ABBA01027503;ABBA01027504;AC099336;AF324888;AF324892;AK098261;AK307591;AL049388;AL050133;AL117460;AL356953;AL589762;AMYH02002496;AMYH02002497;AMYH02002498;AMYH02002499;AMYH02002500;BC034430;BC071166;BC110907;BC144699;BX501884;CH471067;DA075060;NM_001167857;NM_001167858;NM_001197131;NM_002481;NM_032103;NM_032104;XM_005245199;XM_005245200;XM_005245201;XM_005245202;XM_005245204;XM_005245205;XM_005245206;XM_006711339;XR_426776 AAH34430;AAH71166;AAI10908;AAI44700;AAK00336;AAK00337;BAA28376;BAB17610;BAB17611;BAJ22080;EAW91416;EAW91417;EAW91418;EAW91419;EAW91420;EAW91421;EAW91422;EAW91423;EAW91424;EAW91425;NP_001161329;NP_001161330;NP_001184060;NP_002472;NP_115286;NP_115287;O60237;XP_005245256;XP_005245257;XP_005245258;XP_005245259;XP_005245261;XP_005245262;XP_005245263;XP_006711402 Hs.444403 1336792;1666222;1675620;1676518;1679323;1685119;1693016;1701288;1735980;1770817;1790145;1796548;1854970;2155832;2157719;2163416;2166385;2170645;2187879;5015861;5022651;5116740;7185938 AL034216;D10S16;D11S2921;D1S1164;D1S1647;D1S2000E;D1S2583;D1S3286;G34805;G65925;PPP1R12B_1590;RH104273;RH80722;RH81047;RH91233;RH92680;SHGC-37118;SHGC-76158;SHGC-76160;SHGC-76171;sY1201;sY3158 FLJ40942;MGC131980;MGC87886;MYPT2;PP1bp55 OTTHUMP00000038809;OTTHUMP00000038811;OTTHUMP00000216823;myosin phosphatase target subunit 2;myosin phosphatase, target subunit 2;myosin phosphatase-targeting subunit 2;protein phosphatase 1 regulatory subunit 12B;protein phosphatase 1, regulatory (inhibitor) subunit 12B APPROVED protein-coding ENSG00000077157 HGNC:7619 04794 603768 REVIEWED 1353719 PPP1R14BP1 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 1 22 22 22 q12 15472910 15473886 + 31672423 31673401 + 31276437 31277415 + 12477932;9556220 50516 ABBA01055327;AC002073;AF030942;AMYH02038233;AMYH02038234;NG_001274;NG_029895 1677174 RH27387 PLCB3NP pseudo HGNC:9058 INFERRED 1344402 PPP1R14B protein phosphatase 1, regulatory (inhibitor) subunit 14B ENCODES a protein that exhibits protein phosphatase inhibitor activity (inferred); INVOLVED IN negative regulation of catalytic activity (inferred); regulation of phosphorylation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH carbamazepine; diclofenac; elemental selenium 11 11 11 q13 61338832 61341296 - 64011951 64014413 - 64244479 64246941 - 1580863;6480464 10606530;10737800;12477932;15083373;15489334;15522888;16341674;16964243;19913121;20628086;21145461;22053931;22939629;24816145;8838322 26472 F5GXC4;F5H2U0;Q96C90 ABBA01003291;ABBA01003292;ABBA01003293;ABBA01003294;AF318364;AMYH02024932;AP001453;BC014522;BC071884;BC094817;BF155230;BM847221;BT009914;CH471076;NM_138689;X91192;X91195 AAH14522;AAH94817;AAL55871;AAP88916;ACE87010;ACE87699;EAW74226;EAW74227;NP_619634;Q96C90 Hs.523760;Hs.596713 1649068;1659923;1677174 FKBP2;G33075;RH27387 PHI-1;PLCB3N;PNG;SOM172 OTTHUMP00000237042;OTTHUMP00000237043;OTTHUMP00000237044;phospholipase C beta-3 neighboring gene protein;phospholipase C-beta-3 neighbouring gene protein;protein phosphatase 1 regulatory subunit 14B protein-coding ENSG00000173457 HGNC:9057 18513 601140 VALIDATED 1312214 PPP1R13B protein phosphatase 1, regulatory subunit 13B This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008] 14 14 14 q32.33 84254345 84368187 - 104200088 104315116 - 103733751 103848484 - 1580863;6480464;8662965;8554872 20679336 11684014;12477932;12508121;14702039;14729977;15231748;15706352;15731768;15757645;15782125;16139958;16314841;17043677;17875712;18029348;19850743;20034025;20379614;20601096;20936779;21041410;21041411;21102414;21382349;21479363;22068052;22169642;22321011;22552744;22745667;23080069;23088536;23392125;23644657;24255178;9872452 23368 B3KN04;G3V2L3;G3V3S2;G3V5J1;H0YJG1;H0YJL1;Q96KQ4 AB018314;ABBA01048402;ABBA01048403;ABBA01048404;ABBA01048405;ABBA01048406;ABBA01048407;ABBA01048408;ABBA01048409;ABBA01048410;ABBA01048411;ABBA01048412;AJ318887;AK021580;AK023188;AK125374;AK125913;AK307149;AL049840;AL132712;AMYH02029930;AMYH02029931;AW295594;BC035446;BC047639;BC136527;CH471061;DB461586;KF456009;NM_015316;XM_005267484;XM_005267485;XM_005267487;XR_245675;XR_245676 AAI36528;BAA34491;BAC86342;BAG51166;CAC83011;EAW81845;EAW81846;EAW81847;NP_056131;Q96KQ4;XP_005267541;XP_005267542;XP_005267544 Hs.709297 1334937;1671579;1671581;1712787;1773941;1778473;1798008;2114408;2119778;2124524;2124566;2126219;2126454;2138938;2140761;2161811 A001V41;A008C04;D14S1010;G19698;G35416;G35615;G35763;G35800;G36012;G36171;HSC0RB112;PPP1R13B_1759;RH120107;RH69614;RH78568;SHGC-32210 ASPP1;KIAA0771;p53BP2-like;p85 OTTHUMP00000246651;apoptosis-stimulating of p53 protein 1;apoptosis-stimulating protein of p53, 1;protein phosphatase 1 regulatory subunit 13B;protein phosphatase 1, regulatory (inhibitor) subunit 13B APPROVED protein-coding ENSG00000088808 HGNC:14950 07345 606455 REVIEWED 1347285 PPP1R13L protein phosphatase 1, regulatory subunit 13 like IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008] 19 19 19 q13.32 42688993 42715713 - 45882892 45909787 - 45379634 45406480 - 6480464;6484113;8662965;8554872 20679336 10336463;12134007;12477932;12524540;15231748;15489334;15489900;15558054;15607367;15661756;15885892;16139958;16344560;16690207;16817948;16964243;16964264;17081983;17131345;17222938;17391696;17570360;17872376;17906639;18201273;18275817;18289367;18588689;18798069;19116388;19246451;19257887;19692168;19734419;19773279;20354815;20422457;20600029;20840860;21046104;21139048;21184255;21192816;21391736;21625267;21890473;21897369;21926165;21998301;22321011;22335888;22351191;22538442;22552744;22766503;22815155;23088536;23180017;23420450;23443559;23528480;23624123;23624869;23691514;24140460;24405603;24604828;24668753 10848 K7EML6;K7EN03;K7ENG6;K7EPP1;Q8WUF5 ABBA01040923;ABBA01040924;ABBA01040925;ABBA01040926;AC092309;AF078036;AF078037;AJ888472;AK130326;AMYH02036198;AY869712;BC001475;BC014499;BC020259;BC020589;BC032298;BC064913;CH471126;DB209153;DQ314886;DQ986418;NM_001142502;NM_006663;XM_005258424 AAD27004;AAD27005;AAH01475;AAH20589;AAH32298;AAH64913;AAW51146;ABC40745;ABK76301;BAC85327;CAI60219;EAW57343;EAW57344;EAW57345;NP_001135974;NP_006654;Q8WUF5;XP_005258481 Hs.466937 1341082;1773528;2150274;2180884;5016478;5037552 D19S393;D19S543;D8S2279;GDB:434012;STS-R48186;STS-W67936 NKIP1;RAI;RAI4 IASPP;NFkB interacting protein 1;NFkB-interacting protein 1;PPP1R13B-like protein;inhibitor of ASPP protein;inhibitor of apoptosis stimulating protein of p53;protein phosphatase 1, regulatory (inhibitor) subunit 13 like;relA-associated inhibitor;retinoic acid induced 4 APPROVED protein-coding ENSG00000104881 HGNC:18838 09195 607463 VALIDATED 1350163 PPP1R12A protein phosphatase 1, regulatory subunit 12A Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] 12 12 12 q15-q21 79833868 79995723 - 80167343 80329235 - 79773563 79935455 - 1580863;6480464;6907045 10087910;10200412;10567269;10601309;11067852;11283607;11287000;11342221;11931630;12220642;12477932;12563012;12600888;12773565;12923170;14702039;15144186;15292222;15324660;15489334;15545284;15570572;15723050;15748895;15999227;16417406;16498633;17081983;17353931;17369396;17474147;17620599;17904578;18023418;18079119;18477460;1870098;18755268;18776185;19167335;19245366;19322201;19531490;19701943;19744480;19794400;20202976;20360068;20379614;20473970;20634291;20689807;20801872;20876399;21115810;21139048;21252232;21678426;21821002;22155728;22190034;22516431;22641346;22728334;22863883;22869619;22939629;22990118;23168335;23182705;23345589;23398456;23400010;23419712;23775458;24074453;24100445;24238611;24250222;24255721;24332808;24356468;24712327;24785407;24816145;8662509;880069;9200713;9286714;9354661 4659 B2RAH5;F8VW28;F8VZN8;H0YHI8;H0YHL8;H0YIL7;H0YIM2;H0YIS3;H0YIS4;O14974 AB042196;ABBA01053499;ABBA01053500;ABBA01053501;AC018476;AC073569;AC074270;AF086032;AF458589;AK057712;AK302692;AK314193;AMYH02026817;AMYH02026818;AY380574;BC000812;BC013941;BC040375;BC047898;BC062560;BC092481;BC111752;CH471054;D87930;DC350703;NM_001143885;NM_001143886;NM_001244990;NM_001244992;NM_002480;XM_005268885;XM_005268886;XM_005268887;XM_005268888;XM_005268889;XM_005268891;XM_005268892;XM_005268893 AAH13941;AAH47898;AAH92481;AAI11753;AAM49717;AAQ88438;BAA22378;BAB39107;BAG36872;BAG63921;EAW97351;EAW97352;EAW97353;EAW97354;EAW97355;EAW97356;NP_001137357;NP_001137358;NP_001231919;NP_001231921;NP_002471;O14974;XP_005268942;XP_005268943;XP_005268944;XP_005268945;XP_005268946;XP_005268948;XP_005268949;XP_005268950 Hs.49582 1655695;1663760;1679273;1710828;1710830;1796546;1853921;1858450;2137673;2154753;2171005;5093046 A009E41;G32488;PPP1R12A_1515;RH11236;RH44805;RH46293;RH70109;RH91540;SHGC-56584;SHGC-84164;SHGC-84179;WI-16785 M130;MBS;MGC133042;MYPT1 OTTHUMP00000242812;OTTHUMP00000242813;OTTHUMP00000242814;OTTHUMP00000242815;myosin binding subunit;myosin phosphatase, target subunit 1;myosin phosphatase-targeting subunit 1;protein phosphatase 1 regulatory subunit 12A;protein phosphatase 1, regulatory (inhibitor) subunit 12A;protein phosphatase myosin-binding subunit APPROVED protein-coding ENSG00000058272 HGNC:7618 03606 602021 REVIEWED 1342970 PPP1R14BP5 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 5 6 6 6 q22.32 127321384 127349735 - 126579070 126579476 - 126257924 126258330 - 11948623 442256 ABBA01025943;AC020559;AMYH02014439;NG_030184 pseudo HGNC:16332 INFERRED 735966 PPP1R14C protein phosphatase 1, regulatory (inhibitor) subunit 14C The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010] 6 6 6 q24.3-q25.3 151198793 151306443 + 150464188 150571528 + 150143052 150250392 + 6480464 11564868;11812771;11948623;12477932;12747765;14574404;14702039;15489334;16449650;19132087;19475667;20592344;21946350;22939629;23284291 81706 Q8TAE6 ABBA01025663;ABBA01025664;ABBA01025665;ABBA01025666;AF308297;AF407165;AF407166;AK092697;AK096272;AL096708;AL138890;AL355497;AMYH02014702;AMYH02014703;BC015773;CB994599;CH471051;DR003369;NM_030949;XM_005267152 AAG48264;AAH15773;AAL83506;AAL83507;ABM83123;ABM86318;EAW47770;EAW47771;NP_112211;Q8TAE6;XP_005267209 Hs.486798 1669250;1771943;1849709;2123934;2124350;2127938;2146326;2157104;2219554 D6S1178E;PPP1R14C_2476;RH18265;RH18363;RH37413;RH37415;RH47324;WI-22584;WIAF-1701 CPI17-like;KEPI;NY-BR-81 OTTHUMP00000017412;PKC-potentiated PP1 inhibitory protein;kinase C-enhanced PP1 inhibitor;kinase-enhanced PP1 inhibitor;protein phosphatase 1 regulatory subunit 14C;serologically defined breast cancer antigen NY-BR-81 APPROVED protein-coding ENSG00000198729 HGNC:14952 17890 613242 VALIDATED 1350290 PPP1R14D protein phosphatase 1, regulatory (inhibitor) subunit 14D Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010] 15 15 15 q15.1 17875542 17888808 - 41107643 41121283 - 40815445 40829085 - 1580863;6480464;8554872 11948623;12477932;12974676;14702039;15489334;18854154 54866 E9PAT1;Q4V755;Q9NXH3 ABBA01038431;AC012476;AI963626;AK000258;AMYH02030255;AY050671;BC096716;BC098124;BC098150;BC098341;CH471125;NM_001130143;NM_017726;XM_006720585 AAH96716;AAH98124;AAH98150;AAH98341;AAL25829;BAA91037;EAW92456;NP_001123615;NP_060196;Q9NXH3;XP_006720648 Hs.192927 2217812 PPP1R14D_2784 CPI17-like;FLJ20251;GBPI-1;GBPI1;MGC119014;MGC119016 OTTHUMP00000160541;PKC-dependent PP1 inhibitory protein;gastrointestinal and brain-specific PP1-inhibitory protein 1;gut and brain phosphatase inhibitor 1;protein phosphatase 1 regulatory subunit 14D APPROVED protein-coding ENSG00000166143 HGNC:14953 17891 613256 VALIDATED 733523 PPP1R14A protein phosphatase 1, regulatory (inhibitor) subunit 14A The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Sep 2011] 19 19 19 q13.1 35544117 35549412 - 38741877 38747231 - 38251237 38256591 - 6480464 10869555;10924361;11467857;11931393;12062430;12477932;12974676;15003508;15234908;15489334;16885985;17237191;17301291;18482256;18757304;18835652;20202976;20875397;21139048;21832049;22275376;23275439;23541585;23583905;23800065;8720121;9237662 94274 K7EJB8;K7EMN0;Q96A00 AB056508;AB056509;ABBA01040672;ABBA01040673;AC011479;AF123763;AMYH02036065;AY050668;AY050670;BC021089;CH471126;ES314242;NM_001243947;NM_033256 AAH21089;AAL24445;AAL25828;AAP97242;ABM83056;ABM86250;BAB62502;BAB62503;EAW56764;EAW56765;NP_001230876;NP_150281;Q96A00 Hs.631569 CPI-17;CPI17;PPP1INL 17 kDa PKC-potentiated inhibitory protein of PP1;17-KDa protein;17-kDa PKC-potentiated inhibitory protein of PP1;PKC-potentiated inhibitory protein of PP1;protein kinase C-potentiated inhibitor protein of 17 kDa;protein phosphatase 1 regulatory subunit 14A APPROVED protein-coding ENSG00000167641 HGNC:14871 16291 608153 REVIEWED 1342864 PPP1R15A protein phosphatase 1, regulatory subunit 15A This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 46243013 46246683 + 49375649 49379319 + 48872392 48876062 + 1580863;6480464;6484113;6907045 10434033;10490642;10631107;11104688;11517336;11564868;12016208;12168790;12477932;12556489;12724406;12813455;14635187;14670976;14702039;14718519;15231748;15541008;16169070;16337513;16344560;16455055;17273797;18362886;18794359;19131336;19776135;19901557;20040105;20467438;20800603;21145461;21518769;21988832;22145905;23412101;23708656;24092754;8125298;9153226;9413226 23645 M0QXL1;O75807 ABBA01032963;AC026803;AK001361;AK225632;AK296668;AK297615;AK298765;AK311366;AMYH02036312;BC003067;CH471177;CR457259;DA484808;HI574240;NM_014330;U83981 AAC25631;AAH03067;ABM82781;ABW03442;BAA91649;BAG59265;BAG59994;BAG60907;CAG33540;CBX47609;EAW52409;NP_055145;O75807 Hs.631593 2129187;2174767;2217814;5114047 PPP1R15A_2892;RH71420;RH81092;STS-R32980 GADD34 growth arrest and DNA damage-inducible protein GADD34;growth arrest and DNA-damage-inducible 34;myeloid differentiation primary response protein MyD116 homolog;protein phosphatase 1 regulatory subunit 15A;protein phosphatase 1, regulatory (inhibitor) subunit 15A APPROVED protein-coding ENSG00000087074 HGNC:14375 06572 611048 REVIEWED 1345421 PPP1R14BP2 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 2 2 2 2 q33.3 202308201 202308798 + 208546314 208546754 + 207681590 207682030 + 11948623 729406;94300 ABBA01062686;AC096772;AMYH02005646;NG_030152 pseudo HGNC:16329 INFERRED 1352099 PPP1R14BP4 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 4 7 7 p14.2 36010760 36011174 - 35971150 35971564 - 11948623 94302 ABBA01056896;AC087072;AMYH02015522;NG_030051 pseudo HGNC:16331 INFERRED 1348636 PPP1R14BP3 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 3 4 4 140036087 140036528 - 139114933 139115374 - 11948623 100507617;94301 ABBA01069945;AC093602;AMYH02010193;NG_030217 pseudo HGNC:16330 INFERRED 1322272 PPP1R16B protein phosphatase 1, regulatory subunit 16B The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 20 20 20 q11.23 34145025 34262342 + 37434348 37551667 + 38805705 38923024 + 1580863;6480464;8554872 10048485;11780052;12055102;12168954;12477932;15491607;15761153;16263087;18586956;21466834;21907835 26051 Q96T49 AB020630;AB177855;ABBA01052532;ABBA01052533;AF362910;AK026900;AL023803;AL031657;AL121889;AMYH02037064;BC026224;BC131801;BC152467;CH471077;KF456897;NM_001172735;NM_015568 AAI31802;AAI52468;AAK52796;BAA74846;BAD66833;EAW76009;NP_001166206;NP_056383;Q96T49 Hs.45719 1644211;1644213;1662306;1664059;1771061;1798012;2118533;2162729;2170060;5114820 A001V46;A006X16;AL030969;D20S1094;D20S494;D20S557E;G19702;PPP1R16B_1698;SHGC-33075;WI-13717 ANKRD4;KIAA0823 CAAX box protein TIMAP;OTTHUMP00000030988;OTTHUMP00000178923;TGF-beta-inhibited membrane-associated protein;TIMAP;ankyrin repeat domain protein 4;ankyrin repeat domain-containing protein 4;hTIMAP;protein phosphatase 1 regulatory inhibitor subunit 16B;protein phosphatase 1, regulatory (inhibitor) subunit 16B APPROVED protein-coding ENSG00000101445 HGNC:15850 15168 613275 REVIEWED 1317459 PPP1R16A protein phosphatase 1, regulatory subunit 16A FOUND IN plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 8 8 8 q24.3 141897581 141902976 + 145703365 145727504 + 144477982 144502121 + 1580863;6480464 11336659;11948623;12477932;15489334;16169070;16189514;16920702;18029348;19019082;19060904;21509594;22321011;23080069 84988 Q96I34 ABBA01005200;ABBA01005201;AC084125;AK090471;AMYH02019009;BC007854;BC049841;BC053506;BT006845;CH471162;NM_032902;XM_005272350;XM_006716674;XM_006716675 AAH07854;AAH49841;AAH53506;AAP35491;ADZ15455;BAC03452;EAW82080;EAW82081;EAW82082;NP_116291;Q96I34;XP_005272407;XP_006716737;XP_006716738 Hs.521937 1647959;1767169;1798010 PPP1R16A_1616;RH1549;SGC33369 MGC14333;MYPT3 OTTHUMP00000228776;likley ortholog of mouse myosin phosphatase targeting subunit 3;myosin phosphatase-targeting subunit 3;protein phosphatase 1 regulatory subunit 16A;protein phosphatase 1, regulatory (inhibitor) subunit 16A APPROVED protein-coding ENSG00000160972 HGNC:14941 16454 609172 PROVISIONAL 1344493 PPP1R17 protein phosphatase 1, regulatory subunit 17 The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 7 7 7 p15 31713567 31735005 + 31726631 31748069 + 31687017 31708455 + 6480464;8554872 10051666;12477932;12853948;12955585;15489334;16344560;20379614;21832049;22340725;9847074;9920894 10842 O96001 AACC02000087;ABBA01056823;ABBA01056824;AC006325;AF071789;AF097730;AK293478;AK312989;AMYH02015470;BC028094;CH471073;DA061079;DB039499;NG_023417;NM_001145123;NM_006658 AAD12588;AAD13030;AAF03537;AAH28094;BAG35826;BAG56969;EAL24441;EAW93983;NP_001138595;NP_006649;O96001 Hs.227011 1685213;1773063;1848785 G30994;GDB:4585197;RH94284 C7orf16;GSBS G-substrate;OTTHUMP00000158793;OTTHUMP00000202600;protein phosphatase 1 regulatory subunit 17 APPROVED protein-coding ENSG00000106341 HGNC:16973 06820 604088 REVIEWED 1342795 PPP1R1AP1 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 1 11 11 q13.5 75622244 75622668 - 75911200 75911624 - 11948623 94304 ABBA01017459;AMYH02025124;AP003168;NG_030171 pseudo HGNC:16316 INFERRED 1345017 PPP1R1AP2 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 2 6 16 16 p11.1 67531099 67531601 + 35146391 35146893 + 35912020 35912522 + 11948623 100129627 ABBA01002108;AC116553;AMYH02031961;NG_022518 pseudo HGNC:16317 INFERRED 1317432 PPP1R15B protein phosphatase 1, regulatory subunit 15B PPP1R15B promotes dephosphorylation of the transcription initiation factor EIF2-alpha (EIF2S1; MIM 603907) through recruitment of protein phosphatase-1 (PP1) catalytic subunits (see MIM 176875) (Harding et al., 2009 [PubMed 19181853]).[supplied by OMIM, Feb 2010] 1 1 1 q32.1 177507930 177516383 - 204369781 204380945 - 204400265 204411817 - 6480464 11948623;12477932;14702039;15231748;19181853;21382349;21906983;21963094;21987572;22145905;22321011;22915583;23080069;23535732;8125298 84919 Q5SWA1 ABBA01027446;AI363360;AK023680;AK027650;AK222877;AK303535;AK316092;AL606489;AL833746;AMYH02002534;BC065280;CH471067;KF459739;NM_032833;XM_005245551 AAH65280;BAB55266;BAD96597;BAG64561;BAH14463;CAH56240;EAW91511;NP_116222;Q5SWA1;XP_005245608 Hs.304376 1650435;1709814;5022578;5037552;5109281 D1S1423;D1S1425;D8S2279;SHGC-76198;SHGC-84724 CREP;FLJ14744 OTTHUMP00000034337;protein phosphatase 1 regulatory subunit 15B;protein phosphatase 1, regulatory (inhibitor) subunit 15B APPROVED protein-coding ENSG00000158615 HGNC:14951 17892 613257 VALIDATED 1351328 PPP1R1C protein phosphatase 1, regulatory (inhibitor) subunit 1C Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and regulatory subunits that determine the subcellular localization of PP1 or regulate its function. PPP1R1C belongs to a group of PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010] 2 2 2 q31.3 176446274 176578147 + 182818968 182996109 + 181954241 182131382 + 1580863;6480464 11948623;12477932;18310074;19874272;20379614;20468071;22939397;7566098 151242 Q53TF4;Q8WVI7 AA321774;ABBA01062291;AC009962;AC011291;AC064837;AF494535;AK129898;AK311571;AMYH02005362;AMYH02005363;AMYH02005364;BC017943;BI792375;BX647581;CH471058;NM_001080545;NM_001261424;NM_001261425;NR_048566;NR_048567 AAH17943;AAM18054;AAY14914;AAY24129;CAI46089;EAX10976;EAX10977;NP_001074014;NP_001248353;NP_001248354;Q8WVI7 Hs.10941 1715237;1726701;1776633;2122183;2124994;2166181 AFM275XG9;G62587;RH119869;RH68859;RH68882;STS-W86489 IPP5 Inhibitor-1-like;OTTHUMP00000205518;OTTHUMP00000205519;OTTHUMP00000205520;PP1 inhibitor protein 5;inhibitor-5 of protein phosphatase 1;protein phosphatase 1 regulatory subunit 1A;protein phosphatase 1 regulatory subunit 1C APPROVED protein-coding ENSG00000150722 HGNC:14940 613240 VALIDATED 1347073 PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 17 17 17 q12 34442912 34452611 + 37783177 37792878 + 39626908 39636625 + 1580863;6480464 10604473;11134138;12124342;12477932;14508844;14702039;14991576;15010812;15188007;15345721;15489334;16061638;16169070;16344560;1663529;16750903;17027969;17117180;17171661;1721636;17290303;17492506;17521792;17618027;17683050;17695523;1791981;17948899;18055181;18058465;18199533;18270970;18470533;18573638;18579663;18808062;18954090;19058789;19059449;19077115;19086053;19124506;19156168;19301121;19463699;19651774;19874574;19897079;19913121;20074680;20468064;20483474;20580047;20628086;20631684;20836878;20874815;21041608;21369787;21447180;21453742;2153935;21741919;21821092;2191086;22179181;22559203;22576830;22589394;23080070;23160836;23250204;23250732;23295814;23639477;23715974;24035787;24395794;2557337;6087160;6319627;6330098;8120638;8125298;9108011;9920093 84152 B3KVQ9;J3KSJ8;J3KT77;Q9UD71 ABBA01031861;AC087491;AF233349;AF435972;AF435973;AF435974;AF435975;AF464196;AK024593;AK123112;AK123950;AK124417;AK127542;AK129537;AK225058;AMYH02033385;AY070271;BC001519;BT007076;BX648641;CH471152;CS566124;DA136306;NG_030330;NM_001242464;NM_032192;NM_181505;XM_006722137 AAF43435;AAH01519;AAL59016;AAM76683;AAP35094;AAP35095;AAP35096;AAP35097;AAP35098;AAP35739;BAB14931;BAG53871;BAG54520;CAN37612;EAW60580;EAW60581;EAW60582;EAW60583;NP_001229393;NP_115568;NP_852606;Q9UD71;XP_006722200 Hs.286192 1672006;1675612;2218586 PPP1R1B_4142;RH66410;WI-19537 DARPP-32;DARPP32;FLJ20940 OTTHUMP00000164273;OTTHUMP00000164274;OTTHUMP00000164275;OTTHUMP00000164276;dopamine and cAMP regulated phosphoprotein;dopamine and cAMP-regulated neuronal phosphoprotein 32;dopamine- and cAMP-regulated neuronal phosphoprotein;protein phosphatase 1 regulatory subunit 1B;protein phosphatase 1, regulatory (inhibitor) subunit 1B (dopamine and cAMP regulated phosphoprotein, DARPP-32) APPROVED protein-coding ENSG00000131771 HGNC:9287 05097 604399 REVIEWED 1343622 PPP1R2 protein phosphatase 1, regulatory (inhibitor) subunit 2 ENCODES a protein that exhibits protein phosphatase inhibitor activity (inferred); protein serine/threonine phosphatase inhibitor activity (inferred); INVOLVED IN generation of precursor metabolites and energy (inferred); glycogen metabolic process (inferred); negative regulation of catalytic activity (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 3 3 3 q29 193649379 193678278 - 195241221 195270224 - 195514425 195543401 - 1580863;6480464 10807923;11320080;12221103;12270929;12393858;12477932;12665801;12697755;12761178;15302935;15489334;16627625;16987514;17081983;17207965;17353931;18716057;19036150;19322201;20360068;21044950;21382349;21714498;22321011;22863883;22939629;23000965;23455922;23506001;23602568;24195737;24816145;7949733;8119416;8288648;9126490;9405437 5504 E7EMN6;E7EUI7;H7C416;P41236;Q6NXS2 AA259068;ABBA01001605;ABBA01001606;ABBA01001607;AC069213;AC091633;AI638626;AJ133812;AMYH02008471;AMYH02008472;AY063767;BC007655;BC066921;CH471052;NM_001291504;NM_001291505;NM_006241;U68111;X78873;XM_006713682;XM_006713683;Y13810;Z29646 AAC51206;AAH07655;AAH66921;AAL48322;ADQ32784;CAA55475;CAA82754;CAB41680;EAW78025;NP_001278433;NP_001278434;NP_006232;P41236;XP_006713745;XP_006713746 Hs.535731;Hs.706920 1668782;1678657;1735184;1735268;1796552;1848157;1857020;2139753;2150346;5107962;5117168 A006H01;D3S2826E;D3S2923E;D5S2660;G20795;GDB:451568;PPP1R2_1377;RH17847;RH38934;SHGC-12023;WIAF-1664 IPP-2;IPP2;MGC87148 OTTHUMP00000208848;OTTHUMP00000208849;phosphatase inhibitor 2;phosphoprotein phosphatase 1643250;1643508;2314773 BW134_H;BW262_H;GLUCO107_H protein-coding ENSG00000184203 HGNC:9288 03478 601792 VALIDATED 737038 PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A ENCODES a protein that exhibits protein phosphatase inhibitor activity (inferred); protein serine/threonine phosphatase inhibitor activity (inferred); INVOLVED IN glycogen metabolic process (inferred); negative regulation of catalytic activity (inferred); signal transduction (inferred); PARTICIPATES IN long term potentiation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); extracellular space (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 12 12 12 q13.2 54624894 54634311 - 54969176 54982451 - 54579240 54588659 - 1580863;6480464;6907045;8554872 11564868;12477932;15342556;15345721;15489334;18192322;18698139;19913121;20628086;24249716;8611507;9920093 5502 F8VR76;H0YIU4;Q13522;R4GMQ8 ABBA01008376;AC079310;AK123969;AMYH02026537;AY063766;BC022470;BM876308;BP211831;CH471054;CR457003;KF459546;NM_006741;U48707;XM_005268995;XM_006719471 AAB02402;AAH22470;AAL48321;BAC85737;CAG33284;EAW96792;NP_006732;Q13522;XP_005269052;XP_006719534 Hs.505662 1671034;1796550;2152849;2179633;5014753;5123971 A007D03;PPP1R1A_1820;RH44485;RH45416;RH78688;RH93498 I-1;I1;IPP-1;IPP1 OTTHUMP00000242489;OTTHUMP00000242490;inhibitor-1;protein phosphatase 1 regulatory subunit 1A;protein phosphatase inhibitor 1;protein phosphatase inhibitor-1 protein-coding ENSG00000135447 HGNC:9286 17893 613246 VALIDATED 1319936 PPP1R18 protein phosphatase 1, regulatory subunit 18 Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008] 6 6 6 p21.3 32242303 32253809 - 30644166 30655672 - 30676389 30687895 - 737633;6480464 12477932 11853319;14702039;15221005;15302935;15489334;16344560;17081983;17374523;19622346;19851445;20360068;21382349;21804078;22321011;22505724;22990118;23000965;23080069;24434620 170954 Q6NYC8 AB073600;AB075829;ABBA01038052;ABBA01038053;AK097089;AK124880;AK125639;AK126182;AL662797;AL662798;AL732442;AL832318;AL832742;AL845353;AMYH02013437;BC006176;BC023314;BC047721;BC066644;BX119957;BX248307;BX647622;BX908728;CH471081;CR753328;CR759873;CR788240;CR936878;DA788428;DB278980;DQ988947;NM_001134870;NM_133471;XM_003403597 AAH06176;AAH66644;ABL61261;BAB85535;BAC86229;BAC86478;BAD38640;BAG54110;CAD38613;CAI46080;EAX03318;EAX03319;NP_001128342;NP_597728;Q6NYC8;XP_003403645 Hs.101150 1683573;1739241;1848120;2180393;2185963 D6S1376;RH46627;RH46631;RH81008;SHGC-34551 HKMT1098;KIAA1949 OTTHUMP00000164114;OTTHUMP00000164115;phostensin;protein phosphatase 1 F-actin cytoskeleton targeting subunit;protein phosphatase 1 F-actin cytoskeleton-targeting subunit;protein phosphatase 1 regulatory subunit 18 APPROVED protein-coding ENSG00000146112 HGNC:29413 610990 VALIDATED 1352865 PPP1R26 protein phosphatase 1, regulatory subunit 26 ENCODES a protein that exhibits phosphatase binding; INVOLVED IN negative regulation of phosphatase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH arsenous acid; copper(2+) sulfate; diarsenic trioxide 9 9 9 q34.3 108888779 108897869 + 138371545 138380739 + 135479699 135488893 + 737633;6480464;8554872 12477932 12421765;14702039;15231748;16053918;18029348;19389623;9734811 9858 Q5T8A6;Q5T8A7 AB014549;ABBA01030037;AK022736;AL161452;AMYH02021869;AMYH02021870;BC017511;BC047935;BC112332;CH471090;NM_014811;XM_005263411;XM_005263412;XM_006717340;XM_006717341;XM_006717342 AAH17511;AAH47935;BAA31624;EAW88150;EAW88151;NP_055626;Q5T8A7;XP_005263468;XP_005263469;XP_006717403;XP_006717404;XP_006717405 Hs.533260 1689580;1774591;5094094 A010A01;G34969;WI-21984 KIAA0649;RP11-426A6.6 1A6/DRIM (down-regulated in metastasis) interacting protein;DRIM/UTP20 interacting protein;OTTHUMP00000022537;OTTHUMP00000022538;protein phosphatase 1 regulatory subunit 26 APPROVED protein-coding ENSG00000196422 HGNC:29089 11099 614056 VALIDATED 5133153 PPP1R26P1 protein phosphatase 1, regulatory subunit 26 pseudogene 1 13 13 13 29945724 29949339 - 48890995 48894610 - 48316859 48320474 - 24019952 100418740 ABBA01051005;AL392048;AMYH02028002;NG_024854 1334923;1758753;7187601 D13S153;SHGC-680 KIAA0649P1 APPROVED pseudo HGNC:42015 INFERRED 5133159 PPP1R26P3 protein phosphatase 1, regulatory subunit 26 pseudogene 3 22 22 q11.21 20672398 20674370 - 18402096 18404068 - 100132173 AC011718;NG_022868 KIAA0649P3 APPROVED pseudo HGNC:42017 INFERRED 5133158 PPP1R26P4 protein phosphatase 1, regulatory subunit 26 pseudogene 4 22 22 q11.21 18703328 18706958 + 18715815 18719445 + 100132295 AC008132;AMYH02038029;AMYH02038030;NG_022874 KIAA0649P4 APPROVED pseudo HGNC:42018 INFERRED 1346366 PPP1R27 protein phosphatase 1, regulatory subunit 27 ENCODES a protein that exhibits phosphatase binding; INVOLVED IN negative regulation of phosphatase activity; INTERACTS WITH benzo[a]pyrene (ortholog); furan (ortholog) 17 17 17 q25.3 76394832 76396390 - 79791368 79792926 - 81833492 81835050 - 6480464 12477932;14702039;15489334;16344560;19389623;21890473;24250222 116729 I3L267;Q86WC6 AA722724;ABBA01019648;AC174470;AF434846;AK096888;AMYH02034139;BC093707;BC112094;BI826571;BX281734;CH471099;DA894509;NM_001007533 AAH93707;AAI12095;AAO67357;EAW89686;NP_001007534;Q86WC6 Hs.454720 5493239 UniSTS:485422 DYSFIP1;MGC138299 dysferlin interacting protein 1;dysferlin interacting protein 1 (toonin);dysferlin-interacting protein 1;dysferlin-interacting protein 1 (toonin);protein phosphatase 1 regulatory subunit 27;toonin APPROVED protein-coding ENSG00000182676 HGNC:16813 17334 VALIDATED 1605582 PPP1R21 protein phosphatase 1, regulatory subunit 21 ENCODES a protein that exhibits phosphatase binding; FOUND IN membrane; INTERACTS WITH bisphenol A; copper(2+) sulfate; methyl methanesulfonate 2 2 2 p16.3 48507697 48582287 + 48667908 48742531 + 48440769 48515392 + 6480464 12477932;14702039;19389623;19946888;21145461;21900206;22939629 129285 F8W7E1;F8WBY8;F8WE40;H7C1Y1;Q6ZMI0 AA449986;ABBA01075189;ABBA01075190;ABBA01075191;ABBA01075192;ABBA01075193;AC093635;AK122900;AK172753;AK172762;AK307755;AMYH02003777;AMYH02003778;AMYH02003779;AY092062;AY134855;BC011978;BC040721;BC111059;BC117279;BC143463;BC143466;CH471053;NM_001135629;NM_001193475;NM_152994;NR_024188 AAH11978;AAH40721;AAI11060;AAI17280;AAI43464;AAI43467;AAN08625;AAX93161;BAD18739;BAD18745;EAX00197;EAX00198;EAX00199;EAX00200;EAX00201;NP_001129101;NP_001180404;NP_694539;Q6ZMI0 Hs.654619 1663515;2127415 SHGC-34039;WI-18131 CCDC128;FLJ16566;KLRAQ1;MGC111781 KLRAQ motif containing 1;KLRAQ motif-containing protein 1;OTTHUMP00000159449;OTTHUMP00000159450;OTTHUMP00000200476;coiled-coil domain containing 128;coiled-coil domain-containing protein 128;protein phosphatase 1 regulatory subunit 21;smooth muscle myosin heavy chain 11 isoform SM1-like APPROVED protein-coding ENSG00000162869 HGNC:30595 17294 VALIDATED 5133160 PPP1R2P10 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 10 13 13 q21.31 64384482 64386061 - 63810349 63811928 - 100128626 ABBA01050255;AL445238;AMYH02028167;NG_029109 pseudo HGNC:42008 INFERRED 1344138 PPP1R2P2 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 2 21 21 21 q22.13 22458357 22460191 + 37259190 37261024 + 35886892 35888726 + 10830953 54036 ABBA01057375;AF020802;AMYH02037769;NG_000913;NG_011402 pseudo HGNC:9290 INFERRED 5133157 PPP1R26P5 protein phosphatase 1, regulatory subunit 26 pseudogene 5 22 22 q11.21 21695885 21697858 + 21341596 21343569 + 100133040 AMYH02038087;AP000552;NG_022876 KIAA0649P5 APPROVED pseudo HGNC:42019 INFERRED 5133156 PPP1R26P2 protein phosphatase 1, regulatory subunit 26 pseudogene 2 22 22 q11.21 20499893 20503484 - 18650026 18653617 - 100133064 ABBA01009187;AC023490;AMYH02038060;NG_022867 KIAA0649P2 APPROVED pseudo HGNC:42016 INFERRED 7246803 PPP1R26-AS1 PPP1R26 antisense RNA 1 9 9 9 108871695 108881225 - 138354564 138364095 - 135462718 135472249 - 12477932;14702039 100506599 ABBA01030036;AK096249;AL161452;AMYH02021869;BC043225;BX100027;HG502530;NR_038969 Hs.561897;Hs.634397 5020946;5020948 G35510;L17971 RP11-426A6.7 ncrna ENSG00000225361 HGNC:48717 VALIDATED 1348869 PPP1R2P5 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 5 2 2 2 q12.3 101766705 101767307 - 107557339 107557941 - 106940883 106941485 - 11948623 649489 ABBA01043979;AC005040;AMYH02004498;NG_021516 1714953;1769242 RH120814;SHGC-30979 pseudo HGNC:16320 INFERRED 1352861 PPP1R2P7 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 7 11948623 94309 HGNC:16322 1343404 PPP1R2P8 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 8 5 5 p14.3 20997273 20998857 + 20997164 20998748 + 11948623 94310 ABBA01054525;AC140168;AMYH02010995;NG_031921 pseudo HGNC:16323 INFERRED 1344126 PPP1R2P3 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 ENCODES a protein that exhibits protein phosphatase inhibitor activity (inferred); INVOLVED IN glycogen metabolic process (inferred); negative regulation of catalytic activity (inferred); regulation of phosphoprotein phosphatase activity (inferred) 5 5 5 q33.3 152303269 152305259 + 156277549 156279539 + 156850538 156852528 + 11948623;12477932;15489334;21382349;23506001;24195737;24816145;7949733 153743 Q6NXS1 ABBA01044278;AC008491;AC011414;AMYH02012541;BC066922;JF438008;NR_038443 AEB77711;Q6NXS1 Hs.567727 1668782;1678657;2150346 RH17847;RH38934;SHGC-12023 MGC87149 pseudo HGNC:16318 VALIDATED 1345869 PPP1R2P9 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9 INVOLVED IN negative regulation of catalytic activity (inferred); regulation of phosphoprotein phosphatase activity (inferred); regulation of signal transduction (inferred) X X X p11.3 46780033 46780902 - 42636617 42637486 - 42777366 42778235 - 1580863;6480464 11076525;11883959;11948623;12477932;15489334;15772651;24195737;7949733 80316 O14990 AB044137;ABBA01046530;AMYH02039222;BC056673;CH471141;NR_002191;Z94277 BAB18974;EAW59387;O14990 Hs.127689 I-4 pseudo HGNC:16324 06593 PROVISIONAL 1353440 PPP1R2P1 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1 ENCODES a protein that exhibits protein phosphatase inhibitor activity (inferred); INVOLVED IN glycogen metabolic process (inferred); negative regulation of catalytic activity (inferred); regulation of phosphoprotein phosphatase activity (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 6 6 6 34395839 34396510 - 32844255 32847851 - 32876478 32880074 - 6480464 11181995;11696978;7949733;8568858 100507444 Q96PQ5 ABBA01038132;ABBA01038133;AF275684;AL669918;AL671681;AL935043;AMYH02013475;BX088556;BX927138;CH471081;CR752645;CR759798;CR936913;NG_027882;X87344 AAL09300;EAX03655;Q96PQ5 Hs.730139 IPP-2P;PPP1R2P pseudo HGNC:9289 INFERRED 735928 PPP1R32 protein phosphatase 1, regulatory subunit 32 ENCODES a protein that exhibits phosphatase binding; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 11 11 11 q12.2 58583952 58593767 + 61248585 61258400 + 61481113 61490928 + 6480464 12477932;14702039;15018803;15489334;16344560;19389623;21382349;21832049 220004 F5GZJ9;F5H272;G3F4G3;H0YF82;H0YFZ1;Q7Z5V6 ABBA01003201;AK057333;AMYH02024879;AP003108;BC043246;BC053995;BI561157;CH471076;DB047394;JF442033;NM_001170753;NM_145017 AAH43246;AAH53995;AEO12128;BAB71432;EAW73947;EAW73948;EAW73949;NP_001164224;NP_659454;Q7Z5V6 Hs.729003 C11orf66;FLJ32771;IIIG9 OTTHUMP00000238200;OTTHUMP00000238201;protein phosphatase 1 regulatory subunit 32;uncharacterized protein C11orf66 APPROVED protein-coding ENSG00000162148 HGNC:28869 16933 VALIDATED 1604503 PPP1R35 protein phosphatase 1, regulatory subunit 35 ENCODES a protein that exhibits phosphatase binding; INVOLVED IN negative regulation of phosphatase activity; INTERACTS WITH benzo[a]pyrene; cobalt dichloride; copper(2+) sulfate 7 7 7 q22.1 94762711 94763893 - 100032900 100034468 - 100435277 100436600 - 6480464 12477932;12690205;15489334;19389623;21382349 221908 Q8TAP8 ABBA01013213;AC092849;AMYH02016379;BC026269;CH236956;CH471091;NM_145030;XM_005250200 AAH26269;EAL23833;EAW76532;NP_659467;Q8TAP8;XP_005250257 Hs.413359 1699238;1788232;2170762;5093968 A009Z42;D7S3095;G33029;RH103200 C7orf47;MGC22793 OTTHUMP00000215765;UPF0683 protein C7orf47;hypothetical protein LOC221908;protein phosphatase 1 regulatory subunit 35 APPROVED protein-coding ENSG00000160813 HGNC:28320 14486 PROVISIONAL 1319175 PPP1R36 protein phosphatase 1, regulatory subunit 36 ENCODES a protein that exhibits phosphatase binding; INVOLVED IN negative regulation of phosphatase activity; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH zinc atom; zinc(0); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q23.3 45074349 45113828 + 65016620 65056099 + 64549902 64589381 + 6480464;8554872 12477932;14702039;15489334;19389623 145376 E9PLB5;G3V4N3;G3V5S6;Q96LQ0 ABBA01018364;ABBA01018365;AK058044;AK130365;AL049869;AMYH02029360;AMYH02029361;AMYH02029362;BC068989;CH471061;NM_172365;XM_005267354;XM_005267355 AAH68989;BAB71637;EAW80868;NP_758953;Q96LQ0;XP_005267411;XP_005267412 Hs.144696 C14orf50 OTTHUMP00000180670;hypothetical protein LOC145376;protein phosphatase 1 regulatory subunit 36;uncharacterized protein C14orf50 APPROVED protein-coding ENSG00000165807 HGNC:20097 08505 PROVISIONAL 1346291 PPP1R2P4 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 4 13 13 13 q14.13 28067020 28067823 - 47011529 47012332 - 46436630 46437989 - 11948623;22863883 728970 ABBA01050990;AL138686;AMYH02027985;NG_011458 pseudo HGNC:16319 INFERRED 2293904 PPP1R37 protein phosphatase 1, regulatory subunit 37 ENCODES a protein that exhibits phosphatase binding; INVOLVED IN negative regulation of phosphatase activity; INTERACTS WITH silicon dioxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 19 19 19 q13.32 42400500 42454809 + 45596431 45650543 + 45093173 45147285 + 6480464 11853319;12477932;15231748;16189514;19389623;23565137 284352 F5H3P7;O75864 AB075866;ABBA01040911;ABBA01040912;AC005757;AC011489;AMYH02036191;AMYH02036192;BC035704;BC039061;CH471126;NM_019121;XM_006723159 AAC62258;AAH35704;BAB85572;EAW57324;NP_061994;O75864;XP_006723222 Hs.285363 1662495;1687483;1690502;1693944;2177060;5014051;5037552 D19S859;D8S2278;D8S2279;G42666;RH98737;SHGC-1350;SHGC-58259 KIAA1986;LRRC68 OTTHUMP00000238041;leucine rich repeat containing 68;leucine-rich repeat-containing protein 68;protein phosphatase 1 regulatory subunit 37 APPROVED protein-coding ENSG00000104866 HGNC:27607 VALIDATED 1344962 PPP1R3B protein phosphatase 1, regulatory subunit 3B This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011] 8 8 8 p23.1 8122001 8136452 - 8993764 9009152 - 9136254 9151642 - 2306167;2304267;2304325;6480464;6907045;8554872 11716774;14715909;7720853 11872655;11948623;12477932;14702039;15231748;16344560;16907705;17207965;17555403;20686565;20864672;21300955;21347282;21988832;22001757;22581228;22832961;22916037;23049088;23343124;23416328;23505323;23726366;23898208;23903356;24097068;7498521 79660 Q86XI6 ABBA01026910;AC022784;AI078688;AI263711;AK024067;AK091994;AK096119;AMYH02017402;AX223867;BC043388;BQ431880;CH471157;DA100998;DB282578;NG_028089;NM_001201329;NM_024607;XM_006716253;XM_006716254 AAH43388;ADQ33125;BAB14811;BAG53215;CAC69382;EAW65572;NP_001188258;NP_078883;Q86XI6;XP_006716316;XP_006716317 Hs.458513 1727253;1735762;1774579;1796556;2156246;2160891;5037552;5109281 D1S1425;D8S1371E;D8S2279;G62882;PPP1R3B_1063;RH16360;SHGC-35151;STS-R62377 FLJ14005;FLJ34675;GL;PPP1R4;PTG OTTHUMP00000159678;OTTHUMP00000224512;PP1 subunit R4;hepatic glycogen-targeting protein phosphatase 1 regulatory subunit GL;hepatic glycogen-targeting subunit, G(L);protein phosphatase 1 regulatory subunit 3B;protein phosphatase 1 regulatory subunit 4;protein phosphatase 1 subunit GL;protein phosphatase 1, regulatory (inhibitor) subunit 3B APPROVED protein-coding ENSG00000173281 HGNC:14942 17894 610541 REVIEWED 1319302 PPP1R3C protein phosphatase 1, regulatory subunit 3C This gene encodes a regulatory subunit of protein phosphatase-1 (PP1). PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities: neuronal, muscular, RNA splicing, protein synthesis, cell death, and glycogen metabolism, to name just a few. By interacting with different regulatory subunits, PP1 is directed to different parts of the cell, to different substrates, or to respond to extracellular signals. [provided by RefSeq, Oct 2011] 10 10 10 q23-q24 87131841 87136500 - 93388197 93392858 - 91628440 91633101 - 1580863;2306167;6480464;6907045 11716774 10222257;11076863;11230166;11256614;12477932;14532330;15342556;15489336;16381901;16385451;18029386;18070875;19171932;19322201;20888814;21738631;21832049;21900206;21963094;22321011;23080069;23922729;8985175;9414128 5507 Q9UQK1 ABBA01021925;AF087874;AF110824;AI766011;AK299392;AK299398;AK313149;AL359986;AMYH02023523;BC012625;BP202053;BX537399;CH471066;NM_005398;Y18207 AAD33215;AAH12625;AAM10502;BAG35967;BAG61377;BAG61382;CAA77082;CAD97641;CAL37969;EAW50107;NP_005389;Q9UQK1 Hs.303090;Hs.744999 1796558;1854816;2147580 A004S47;PPP1R3C_1514;WI-11129 PPP1R5;PTG OTTHUMP00000020089;PP1 subunit R5;Phosphatase 1, regulatory inhibitor subunit 5;protein phosphatase 1 regulatory subunit 3C;protein phosphatase 1 regulatory subunit 5;protein phosphatase 1, regulatory (inhibitor) subunit 3C;protein targeting to glycogen 2314830 INSUL25_H APPROVED protein-coding ENSG00000119938 HGNC:9293 04298 602999 VALIDATED 1351514 PPP1R2P6 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 6 7 7 7 q34 134714318 134714904 + 139992552 139993139 + 140292752 140293339 + 11948623 100130972;94308 ABBA01034062;AC005377;AC093087;AMYH02016902;CH236950;NG_022575 1786244;1786428;2157966 D7S2861;SHGC-133034;SHGC-172032 pseudo HGNC:16321 INFERRED 1343572 PPP1R3A protein phosphatase 1, regulatory subunit 3A The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008] 7 7 7 q31.1 108323366 108365567 - 113516882 113559082 - 113876827 113919027 - 1601468;1601469;1601446;1580863;2311596;2304325;2311552;2311515;2311532;2311560;2311531;2311405;2311445;6480464;6484113;6907045;7240710;8699517;8554872 10389856;10868947;11793847;12118251;12831406;14715909;19520786;19553562;7581368;9653600;9726244;9814479 10648825;11076863;11512679;12185156;12477932;12690205;12853948;12941760;14767904;15181086;15231141;15489334;15870946;16276364;17081983;17511879;18232732;19056482;19578796;23359326;2558013;7926294;9845327 5506 C9JZB3;Q16821 ABBA01057832;ABBA01057833;AC092465;AC093598;AF024576;AF024578;AF024579;AMYH02016600;BC017405;BC056666;BC070313;BC126451;BC126453;BF576879;CH236947;CH471070;DB527300;NG_012116;NM_002711;X78578;XM_005250473 AAB94596;AAB94597;AAI11453;AAI26452;AAI26454;AAP22361;AAS07492;ADR83347;CAA55316;EAL24370;EAW83477;EAW83478;NP_002702;Q16821;XP_005250530 Hs.458309 1666398;1690310;1745819;1855918;2156754 D7S2036E;G15866;GDB:676491;RH91845;SHGC-12021 GM;PP1G;PPP1R3;RG1 OTTHUMP00000211089;glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle;glycogen-associated regulatory subunit of protein phosphatase-1;protein phosphatase 1 glycogen- associated regulatory subunit;protein phosphatase 1 glycogen-associated regulatory subunit;protein phosphatase 1 regulatory subunit 3A;protein phosphatase 1 regulatory subunit GM;protein phosphatase 1, regulatory (inhibitor) subunit 3A;protein phosphatase type-1 glycogen targeting subunit;serine /threonine specific protein phosphatase;type-1 protein phosphatase skeletal muscle glycogen targeting subunit APPROVED protein-coding ENSG00000154415 HGNC:9291 02950 600917;604367 REVIEWED 1353330 PPP1R3F protein phosphatase 1, regulatory subunit 3F This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X X p11.23 52519831 52538087 - 49126305 49144557 + 49269842 49288095 + 6480464;8554872 11948623;12477932;14702039;18029348;20398921;20479760;23602568;8938429 89801 H7C546;Q0D2I0;Q6ZSY5 ABBA01046143;ABBA01046144;ABBA01046145;ABBA01046146;ABBA01046147;ABBA01046148;ABBA01046149;AC232271;AC233302;AF235097;AI694535;AI699647;AK056297;AK056909;AK127066;AK303738;AMYH02039324;BC110405;BC131588;BE670223;BF726691;CH471224;DC412626;NG_021273;NM_001184745;NM_033215;XM_005272687 AAI10406;AAI31589;BAC86811;BAG51670;BAG51824;BAG64711;EAW50670;NP_001171674;NP_149992;Q6ZSY5;XP_005272744 Hs.433652 1702608;1788982;1857330;2043308;2217816;5015861;5015959;5016478;5020946;5022425;5037536;5037552;5037554;7185938 D10S16;D10S2448;D22S296;D8S2279;D8S2282;DXS573;DXS9823E;G65570;GDB:434012;L17971;PPP1R3F_3283;REN92704;SHGC-37390 Hb2E;R3F OTTHUMP00000025837;OTTHUMP00000025838;OTTHUMP00000216989;OTTHUMP00000216990;OTTHUMP00000216991;protein phosphatase 1 regulatory subunit 3F;protein phosphatase 1, regulatory (inhibitor) subunit 3F APPROVED protein-coding ENSG00000049769 HGNC:14944 15170 REVIEWED 1318988 PPP1R3E protein phosphatase 1, regulatory subunit 3E INVOLVED IN glycogen metabolic process (inferred); PARTICIPATES IN glycogen biosynthetic pathway; glycogen degradation pathway; INTERACTS WITH (-)-demecolcine; trichostatin A; valproic acid 14 14 14 q11.2 3627819 3634764 - 23764861 23772071 - 23295921 23302848 - 2306166;6480464 15752363 11948623;12477932;14702039;19773279;22321011 90673 H0YLE3;H0YM26;H0YMB9;H0YMS8;H0YNQ2;Q9H7J1 ABBA01061318;AK024489;AK091943;AK296016;AL049829;AMYH02028869;AW663470;BC039400;BX161476;BX248758;CH471078;CQ859798;NM_001276318 BAB15779;BAG58786;CAD61931;CAD66565;CAH25949;EAW66170;EAW66172;EAW66173;NP_001263247;Q9H7J1 Hs.601513 1685640;1697330;1857675;2126338 RH102162;RH78773;RH98727;SHGC-30969 KIAA1443 protein phosphatase 1 regulatory subunit 3E;protein phosphatase 1, regulatory (inhibitor) subunit 3E APPROVED protein-coding ENSG00000235194 HGNC:14943 VALIDATED 1346810 PPP1R3G protein phosphatase 1, regulatory subunit 3G ENCODES a protein that exhibits glycogen binding (inferred); protein phosphatase binding (inferred); INVOLVED IN glucose homeostasis (inferred); positive regulation of glycogen (starch) synthase activity (inferred); positive regulation of glycogen biosynthetic process (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (2,4,5-trichlorophenoxy)acetic acid (ortholog); aldrin (ortholog); chloroethene (ortholog) 6 6 6 p25.1 6312541 6314276 + 5085720 5087455 + 5085486 5087221 + 6480464 11948623;22321011 648791 B7ZBB8 ABBA01022005;AI089064;AL035653;AMYH02013027;KF458078;NM_001145115 B7ZBB8;NP_001138587 Hs.653089 OTTHUMP00000209238;protein phosphatase 1 regulatory subunit 3G;protein phosphatase 1, regulatory (inhibitor) subunit 3G;putative protein phosphatase 1 regulatory inhibitor subunit 3G APPROVED protein-coding HGNC:14945 VALIDATED 1606658 PPP1R42 protein phosphatase 1, regulatory subunit 42 ENCODES a protein that exhibits actin binding (ortholog); dynein binding (ortholog); tubulin binding (ortholog); INVOLVED IN regulation of phosphatase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome (ortholog); manchette (ortholog); microtubule cytoskeleton (ortholog); INTERACTS WITH arsenite(3-); atrazine; cisplatin 8 8 8 q13.1 63893786 63934229 - 67876280 67940804 - 66988131 67028551 - 6480464;8554872 12477932;18976975;21906983;23718219 286187 G3V118;Q7Z4L9 ABBA01041886;AC110998;AMYH02018118;AMYH02018119;AMYH02018120;BC055413;CH471068;NM_001013626 AAH55413;EAW86927;NP_001013648;Q7Z4L9 Hs.583933 LRRC67;TLLR;dtr OTTHUMP00000227374;leucine rich repeat containing 67;leucine-rich repeat-containing protein 67;protein phosphatase 1 regulatory subunit 42;testis leucine-rich repeat APPROVED protein-coding ENSG00000178125 HGNC:33732 14573 PROVISIONAL 1352990 PPP1R8P1 protein phosphatase 1, regulatory subunit 8 pseudogene 1 1 1 1 p33 47077356 47078528 - 48790646 48791818 - 48324974 48326146 - 10103062 5512 ABBA01050804;AF064758;AL359959;AMYH02000982;NG_001178 PPP1R8P APPROVED pseudo HGNC:9297 INFERRED 1317789 PPP1R7 protein phosphatase 1, regulatory subunit 7 This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 2 2 2 q37.3 235759626 235792623 + 242089012 242122439 + 241149573 241183650 + 1580863;6480464 10231361;12226088;12477932;15489334;16344560;17081983;17353931;17630778;19019082;19056867;20360068;20921135;21139048;21399659;21890473;21900206;21906983;22505724;22801782;22863883;23000965;24250222;24816145;25036637;7498485;7670491;8889548 5510 B5MBZ8;C9J177;C9JD73;C9JRC4;H7C003;H7C118;H7C3Q5;Q15435 ABBA01006039;ABBA01006040;AC005237;AF067134;AF067136;AK294043;AK308015;AMYH02006107;AMYH02006108;AMYH02006109;AMYH02006110;BC000910;BC012397;BC013001;BC051689;BG684153;BI256145;BM676947;BQ212238;BT007296;BT020134;CH471063;DA787059;NM_001282409;NM_001282410;NM_001282411;NM_001282412;NM_001282413;NM_001282414;NM_002712;Z50749 AAD26610;AAD26611;AAD26612;AAD26613;AAH00910;AAH12397;AAH13001;AAP35960;AAV38936;BAG57395;CAA90626;EAW71243;EAW71244;EAW71245;NP_001269338;NP_001269339;NP_001269340;NP_001269341;NP_001269342;NP_001269343;NP_002703;Q15435 Hs.36587 1659101;1734246;2175085;2176976;2177123;2187426 D2S1499E;D2S1647E;D2S2839;HSC11F082;RH65708;RH66016 SDS22 OTTHUMP00000164571;OTTHUMP00000200381;OTTHUMP00000200382;OTTHUMP00000200398;OTTHUMP00000200399;OTTHUMP00000200401;OTTHUMP00000200402;OTTHUMP00000200404;OTTHUMP00000200425;protein phosphatase 1 regulatory subunit 22;protein phosphatase 1 regulatory subunit 7;protein phosphatase 1, regulatory (inhibitor) subunit 7;protein phosphatase-1 regulatory subunit 7 alpha2;protein phosphatase-1 regulatory subunit 7 beta1;protein phosphatase-1 regulatory subunit 7 beta2 APPROVED protein-coding ENSG00000115685 HGNC:9295 04192 602877 REVIEWED 1314810 PPP1R8 protein phosphatase 1, regulatory subunit 8 This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [provided by RefSeq, Jul 2008] 1 1 1 p35.3 26552920 26573808 + 28157252 28178183 + 27830741 27851672 + 727255;1580863;6480464;8554872 8473324 10103062;10432294;10564811;10637318;10827081;11034904;11104670;11739654;11909864;12105215;12477932;12788939;12788942;14699119;15231748;15489334;15501817;15659832;16048649;16131488;16169070;16216881;16344560;16710414;16826568;17207965;17332742;17353931;17724462;17804093;18029348;18253837;18842582;18850631;19460752;20360068;20516061;20671031;21098020;21139048;21360054;21382349;21832049;22365833;22768081;22815811;22939629;22940584;23080069;23940030;24816145;7499293;7524097;9153239;9407077 5511 Q12972;Q6ICT4 ABBA01034995;ABBA01034996;ABBA01034997;AF061958;AF061959;AF064751;AF064752;AF064753;AF064754;AF064755;AF064756;AF064757;AF126488;AK292077;AK297771;AK304619;AK307570;AK313814;AL020997;AL109927;AL359959;AMYH02000609;AX775985;BC001597;BC003405;BC013360;BC093017;BI459680;CH471059;CR450309;DA077576;DA167043;DA693246;DQ223931;NM_002713;NM_014110;NM_138558;U14575;XM_006710723 AAA64749;AAD22486;AAD24669;AAD24670;AAD31541;AAD31542;AAH01597;AAH13360;AAH93017;ABB04281;ADQ33139;BAF84766;BAG36550;BAG60117;BAG65401;CAE11692;CAG29305;EAX07731;EAX07732;EAX07733;EAX07734;EAX07735;EAX07736;NP_002704;NP_054829;NP_612568;Q12972;XP_006710786 Hs.533474 2110875;2119454;2133842;2149631 A002Y18;D1S2380;D1S314E;D1S3446 ARD-1;ARD1;NIPP-1;NIPP1;PRO2047 OTTHUMP00000003847;OTTHUMP00000003848;OTTHUMP00000003849;OTTHUMP00000039070;RNase E;activator of RNA decay;nuclear inhibitor of protein phosphatase 1;nuclear inhibitor of protein phosphatase-1;nuclear inhibitor of protein phosphatase-1 alpha;nuclear subunit of PP-1;protein phosphatase 1 regulatory subunit 8;protein phosphatase 1, regulatory (inhibitor) subunit 8 APPROVED protein-coding ENSG00000117751 HGNC:9296 04028 602636 REVIEWED 733635 PPP1R9B protein phosphatase 1, regulatory subunit 9B This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014] 17 17 17 q21.33 44671218 44687998 - 48211101 48227877 - 50133737 50150516 - 625590;1580863;6480464;8554872 9275233 10194355;10391935;10514494;11154706;11278317;12230305;12270929;12417592;12477932;12531897;14550532;14702039;15231748;15465982;15728359;17482550;19094064;19130477;19151759;19165527;19380743;19615732;20360004;20468064;21890473;22054094;22210881;22284538;22321011;22369787;22922354;22990118;23080069;23591196;23729363;24255178;24457600;24565202;9653190 84687 D3DTX6;Q96SB3 ABBA01041227;AC002401;AI056581;AJ401189;AK054907;AL157449;AL713642;AMYH02033585;BC008564;BC011232;BC016162;BF109903;BF448737;BM991997;CB052174;CH471109;KF495721;NG_034197;NM_032595 AAH08564;AAH16162;BAG51442;CAC37685;CAD28455;EAW94636;EAW94637;EAW94638;NP_115984;Q96SB3 Hs.514323 1729788 D17S588 FLJ30345;PPP1R6;PPP1R9;Spn SPINO;neurabin II;neurabin-2;neurabin-II;nuerabin 2;protein phosphatase 1 regulatory subunit 9B;protein phosphatase 1, regulatory (inhibitor) subunit 9B;protein phosphatase 1, regulatory subunit 9B, spinophilin;spinophilin APPROVED protein-coding ENSG00000108819 HGNC:9298 04506 603325 REVIEWED 1315049 PPP1R3D protein phosphatase 1, regulatory subunit 3D Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. [provided by RefSeq, Jul 2008] 20 20 20 q13.3 55252565 55256030 - 58511887 58515352 - 59936832 59940297 - 625590;1580863;2306167;6480464;6907045;7794757;8554872 11716774;21782450;9275233 11780052;12477932;15489334;15778465;17474147;22321011;23624058;9414128 5509 O95685;Q86X09 ABBA01005956;AL109928;AMYH02037386;BC047502;BC074860;BC074861;BX647298;CH471077;NM_006242;Y18206 AAH47502;AAH74860;AAH74861;CAA77081;EAW75425;NP_006233;O95685 Hs.42215 1796560;2133786;2187588;5492639;5492699 PPP1R3D_1243;STS-H96648;UniSTS:481878;UniSTS:482069;WI-11651 DKFZp781L2441;PPP1R6 OTTHUMP00000031436;PP1 subunit R6;protein phosphatase 1 regulatory subunit 3D;protein phosphatase 1 regulatory subunit 6;protein phosphatase 1, regulatory (inhibitor) subunit 3D;protein phosphatase 1, regulatory subunit 6, spinophilin;protein phosphatase 1-binding subunit R6 APPROVED protein-coding ENSG00000132825 HGNC:9294 04507 603326 REVIEWED 1342834 PPP2CBP1 protein phosphatase 2, catalytic subunit, beta isozyme pseudogene 1 16 16 16 p11.2 28490176 28491625 - 31817193 31818642 + 31805872 31807321 + 10493829;8383590 5517 ABBA01042102;AC002519;AMYH02031856;NG_004793 2130809;2155039;2217822 D8S1928;D8S2038;PPP2CB_3846 PPP2CBP APPROVED pseudo HGNC:9301 INFERRED 736927 PPP2CB protein phosphatase 2, catalytic subunit, beta isozyme This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010] 8 8 8 p12 29603219 29630439 - 30643126 30670352 - 30785610 30812836 - 6480464;6484113;6907045 10318862;10600115;10698523;10781942;11007961;11113010;11259605;11371618;11531413;11588171;11591705;12370081;12435421;12477932;12912990;1330687;14633983;14676191;14702039;15147202;15489334;16085932;16541024;16541025;17210576;17266553;17353931;18460741;1846293;18483222;18781797;18782753;18971272;19156129;20133760;20360068;20562864;20639865;20811636;21072166;21081666;21139048;21317290;21351466;2153055;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22190034;22422068;22505724;22623428;22863883;23000965;23022380;23047923;23287597;23383273;23443559;23455922;23602568;23851495;24337577;24390425;24816145;25027693;2555176;2837763;2849765;8206937;8383590;8749392;9009195;9013886;9276686;9400615;9920888 5516 E5RFI3;E5RHC1;E5RJX4;H0YBN9;H0YC23;P62714 ABBA01023656;AC009314;AF444006;AK091875;AMYH02017723;BC012022;BG716837;BT019526;CA419001;CF594136;CH471080;CR541747;J03805;M60484;NM_001009552;X12656 AAA36467;AAB38020;AAH12022;AAL35904;AAV38333;BAG52434;CAA31183;CAG46547;EAW63433;EAW63434;EAW63435;EAW63436;NP_001009552;P62714 Hs.491440 1644751;1660226;2112024;2112062;2112300;2130809;2144131;2144133;2155039;2217822 A005K33;D8S1928;D8S2038;D8S2146;D8S2190;D8S2268;G20287;PPP2CB_3846;RH46279;STS-N68423 PP2Abeta;PP2CB OTTHUMP00000225455;PP2A-beta;protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform;protein phosphatase 2, catalytic subunit, beta isoform;protein phosphatase 2A catalytic subunit, beta isoform;protein phosphatase 2a, catalytic subunit, beta isoform;protein phosphatase type 2A catalytic subunit;serine/threonine protein phosphatase 2A, catalytic subunit, beta isoform;serine/threonine-protein phosphatase 2A catalytic subunit beta isoform APPROVED protein-coding ENSG00000104695 HGNC:9300 01487 176916 REVIEWED 6481071 PPP2R2B-IT1 PPP2R2B intronic transcript 1 (non-protein coding) 5 5 146293770 146299069 - 146914207 146919506 - 100874361 ABBA01026331;AC011386;AMYH02012422;BX113093;HG498584;NR_047115 Hs.193825 AC008728.2 ncrna HGNC:42984 PREDICTED 1345219 PPP2R1A protein phosphatase 2, regulatory subunit A, alpha This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 19 19 19 q13.41 49742609 49779232 + 52693055 52729678 + 52189802 52226425 + 1580863;6480464;6484113;6907045;8554872 10224043;10629059;10862698;11007961;11076968;11360189;11504734;11531413;11856313;11983168;12221128;12370081;12477932;12670497;12852856;14532964;14645548;14676191;14702039;15231748;15380617;15489334;15525651;15761952;15963952;16041367;16169070;16196087;16344560;16462731;16541024;16541025;16580887;16717086;16930554;17055435;17079228;17110338;17148452;17174897;17210576;17245430;17255109;17266553;17314097;17353931;17374643;17540176;17620599;17632056;17688198;18172692;18715871;18781797;18782753;18971272;19156129;19322201;19471022;19738201;19750005;19794960;19818709;19875381;19890961;19951945;20100830;20133760;20237496;20360068;20639865;20711181;20826764;21072166;21081666;21139048;21145461;21157432;21351466;21381030;21435433;2157202;2159327;21882256;21889517;21890473;21900206;21906983;21963094;21983832;21987572;21988832;22053931;22379092;22404109;22422068;22466704;22505724;22569334;22586326;22623428;22863883;22939629;22948661;23000965;23022380;23047923;23108140;23135275;23184937;23267135;23277564;23287597;23438482;23443559;23455922;23555712;23588898;23658844;23956138;24120762;24204789;24250222;24255178;24390425;24654937;24781523;24816145;24885237;25015289;2554323;7592815;7790358;8254721;8617797;8694763;9013886;9400615;9847399;9989501 5518 A8K7B7;B3KQV6;C9J9C1;E9PH38;M0QXG4;M0R0K6;P30153 ABBA01068261;AC010320;AK090488;AK091387;AK130000;AK290593;AK291932;AK293174;AK293493;AK299012;AK303934;AK307743;AK315700;AMYH02036397;AU128747;BC001537;BC026733;CA426613;CH471135;CR450340;DB246691;DC398468;J02902;M31786;NM_014225;NR_033500 AAA35531;AAA36399;AAH01537;AAP36766;ABM83682;ABM86978;BAC03652;BAF83282;BAF84621;BAG38062;BAG52168;BAG56718;BAG56980;BAG61093;BAG64862;CAG29336;EAW72066;NP_055040;P30153 Hs.467192 2217824 PPP2R1A_2703 MGC786;PP2A-Aalpha;PP2AAALPHA;PR65A OTTHUMP00000174392;OTTHUMP00000174393;PP2A subunit A isoform PR65-alpha;PP2A subunit A isoform R1-alpha;medium tumor antigen-associated 61 KDA protein;protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform;protein phosphatase 2 (formerly 2A), regulatory subunit A , alpha isoform;serine/threonine protein phosphatase 2A, 65 kDa regulatory subunit A, alpha isoform;serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform APPROVED protein-coding HGNC:9302 16184 605983 REVIEWED 1352838 PPP2R2B protein phosphatase 2, regulatory subunit B, beta The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 66-78 copies in cases of SCA12. [provided by RefSeq, Jul 2008] 5 5 5 q32 142050506 142543249 - 145969067 146461083 - 146589504 147081520 - 1580863;5686296;5686297;5686291;5686295;5686294;6480464;6484113;6907045;7240710;8699517;8554872 20629122;20669227;21029765;21471219;21746932 10322434;10581021;11198281;11531413;11723136;11956189;11983168;12058047;12140678;12477932;12497613;12549820;12912990;14702039;14960773;15148151;15342556;15380617;15489334;15578586;15638722;15761153;15780175;15817944;16041367;16048649;16054804;16109716;16126728;16138911;16245300;16286244;16344560;16475161;16596250;17110338;17123511;17148452;17245428;17245430;17266553;17529992;17903297;18484086;1849734;18519826;18653458;18971272;18973067;19156129;19235102;19259763;19581569;19913121;20017961;20056007;20237496;20301317;20301381;20338046;20379614;20533062;20628086;20937954;21072166;21075311;21351466;21827912;21906983;22422068;22583914;23034890;23135275;23287597;23381641;23453885;24157919;24244166;24391510;24509904;8348150;9013886;9400615;9514514 5521 D6RB57;D6RF04;D6RGF9;E5RFC4;E5RJ91;E9PCT7;H0YA16;Q00005 ABBA01026328;ABBA01026329;ABBA01026330;ABBA01026331;ABBA01026332;ABBA01026333;ABBA01026334;ABBA01026335;ABBA01026336;AC008728;AC009186;AC010251;AC011357;AC011386;AC091919;AC091924;AF152102;AI621232;AK056192;AK289717;AK294659;AK295347;AK314810;AL540315;AMYH02012413;AMYH02012414;AMYH02012415;AMYH02012416;AMYH02012417;AMYH02012418;AMYH02012419;AMYH02012420;AMYH02012421;AMYH02012422;AMYH02012423;AV726282;BC031790;BI669304;BP195204;BX464346;BX647887;CH471062;DA155307;DA158596;DA365141;DA522334;DA523686;DA533318;KC877145;M64930;NG_011570;NM_001271899;NM_001271900;NM_001271948;NM_181674;NM_181675;NM_181676;NM_181677;NM_181678;NR_073526;NR_073527 AAA36491;AAA36492;AAA36493;AAF74024;AAH31790;ABM82711;ABM85895;BAF82406;BAG51642;BAH11838;BAH12040;EAW61829;EAW61830;EAW61831;EAW61832;EAW61833;EAW61834;EAW61835;NP_001258828;NP_001258829;NP_001258877;NP_858060;NP_858061;NP_858062;NP_858063;NP_858064;Q00005 Hs.627618;Hs.655213 1338899;1657455;1662464;1676206;1690522;1707770;1725465;1740383;1780950;1780952;1785434;2121323;2131520;2139700;2148231;2158952;2186156;2190479;2217826;5114453;5127422;7185450 A052VD5;D5S1869;D5S2206E;D5S638;Dm0468;G16900;H5SKB.DN-5;L28362;PPP2R2B__3310;RH119128;RH80301;RH80708;SGC30734;SGC38142;SHGC-145349;SHGC-53523;SHGC-82104;STS-AA019131;WI-20015;bac5401S;bac5404S B55-BETA;B55BETA;FLJ95686;MGC24888;PP2A-B55BETA;PP2A-PR55B;PP2AB-BETA;PP2AB55BETA;PP2ABBETA;PP2APR55-BETA;PP2APR55B;PP2APR55BETA;PR2AB-BETA;PR2AB55-BETA;PR2AB55BETA;PR2ABBETA;PR2APR55-BETA;PR2APR55BETA;PR52B;PR55-BETA;PR55BETA;SCA12 OTTHUMP00000160097;OTTHUMP00000160098;OTTHUMP00000160099;OTTHUMP00000223707;OTTHUMP00000223708;OTTHUMP00000232496;OTTHUMP00000232497;PP2A subunit B isoform B55-beta;PP2A subunit B isoform PR55-beta;PP2A subunit B isoform R2-beta;PP2A, subunit B, B-beta isoform;protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform;protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform;serine/threonine protein phosphatase 2A, 55 kDa regulatory subunit B, beta isoform;serine/threonine protein phosphatase 2A, neuronal isoform;serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform APPROVED protein-coding ENSG00000156475 HGNC:9305 05059 604325;604326 REVIEWED 1350094 PPP1R9A protein phosphatase 1, regulatory subunit 9A This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 7 7 7 q21.3 89235114 89624424 + 94536949 94925727 + 94907637 95296415 + 1580863;6480464;8554872 10504266;10514494;10574462;12052877;12270929;12477932;12690205;12853948;14702039;15286155;16344560;17464283;19615732;19913121;20423481;20628086;21890473;22284538;23000965;24255178;8125298;9362513;9653190 55607 B7ZLX4;C9J3G5;C9J730;Q9ULJ8 AB033048;ABBA01045778;ABBA01045779;ABBA01045780;ABBA01045781;AC002429;AC004022;AC073886;AC073890;AK000075;AK096514;AK225204;AMYH02016288;AMYH02016289;BC037849;BC130449;BC144108;BC144109;BC150636;CH236949;CH471091;DA497168;NG_015803;NM_001166160;NM_001166161;NM_001166162;NM_001166163;NM_017650;XM_005250485;XM_006716046;XM_006716047;XM_006716048 AAC35294;AAI30450;AAI44110;AAI50637;BAA86536;BAA90928;EAL24134;EAW76776;NP_001159632;NP_001159633;NP_001159634;NP_001159635;NP_060120;Q9ULJ8;XP_005250542;XP_006716109;XP_006716110;XP_006716111 Hs.21816 1339758;1649457;1669549;1676824;1706336;1708788;1715899;1723427;1772212;1857310;2131203;2160370;2168818;2174478;2191245;2217818;5092972;7184845 A009D19;D17S2137;D7S1489;D7S2160E;D7S2388E;G32444;L17990;MARC_16745-16746:1020448619:1;PPP1R9A_3181;RH118529;RH11976;RH122684;RH12399;RH45602;RH98568;SHGC-80734;SHGC-81053 FLJ20068;KIAA1222;NRB1;NRBI;Neurabin-I OTTHUMP00000208240;OTTHUMP00000208241;OTTHUMP00000208242;neurabin-1;neural tissue-specific F-actin-binding protein I;protein phosphatase 1 regulatory subunit 9A;protein phosphatase 1, regulatory (inhibitor) subunit 9A APPROVED protein-coding ENSG00000158528 HGNC:14946 602468 REVIEWED 735585 PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 129655849 129685663 - 133532148 133561950 - 134196457 134226259 - 2301729;6480464;6484113;6907045;7241020;7794757;8693665;8693390;8661232;8554872;8693707;8661242;8693395;8693574 11032905;14567976;18336616;18454172;21533982;21782450;22087313;24002223;24395787;2562181 10191253;10200280;10357815;10441131;10629059;10644691;10675325;10681496;10698523;10769027;10934208;11007961;11113010;11114196;11259605;11278485;11313937;11360189;11371618;11438723;11440634;11531413;11591705;11842093;11929874;11929880;11956189;11959144;11983168;12036313;12036952;12054646;12058047;12062430;12186863;12370081;12435421;12477932;12514180;12556559;12624094;12637511;12842894;12859198;12912990;12915404;1328247;1330687;14633983;14645548;14702039;14724252;15147202;15231747;15247211;15252037;15380617;15489334;15671020;15761153;15761952;16041367;16085932;16109716;16126728;16169070;16189514;16191191;16258073;16306228;16341674;16456541;16541025;16580887;16596250;16764867;17055435;17110338;17148452;17163575;17174897;17245430;17255109;17266553;17297438;17374643;17485487;17540176;17632056;17693927;17803990;17852432;17855368;17941990;17974561;18160256;18191226;18299321;18339811;18430997;1846293;18477699;1848320;1848668;18583989;18586681;18715871;18768864;18782753;18852266;18928587;18949047;18971272;18977201;19060904;19126401;19131971;19155497;19156129;19356149;19360341;19553685;19738201;19818709;20065038;20092282;20100830;20106966;20133759;20133760;20360068;20363734;20448038;20544796;20558158;20562864;20615878;20639865;20663872;20677014;20711181;20811636;21072166;21081666;21139048;21145461;21151953;21172653;21346232;21351466;21355954;21393425;21454489;21590681;21708940;21791414;21835928;21890473;21906983;21959857;21963094;21983900;21987572;21988832;21996587;22031698;22053931;22065577;22135143;22167190;22192750;22299668;22314363;22379092;22422068;22443683;22466704;22479341;22505724;22613722;22623428;22685328;22732552;22863883;22904676;22939629;22961627;22990118;23000965;23022380;23047923;23064762;23108140;23135275;23183242;23184344;23184937;23185379;23287597;23290789;23402259;23434594;23443539;23443559;23455922;23651848;23677989;23720779;23775084;23824909;23892082;23901063;24064353;24100030;24145130;24250222;24269630;24332808;24382322;24462681;24550388;24642616;24654937;24778252;24781523;24816145;25003662;25027693;2555176;2557326;2837763;2849764;4092695;7592815;8206937;8262976;8383590;8386634;8392375;8524402;8617797;8617805;8703017;9003791;9009195;9013886;9353299;9400615;9647778;9795170;9847399;9852076;9920888;9989501 5515 B3KUN1;E5RHP4;E7ESG8;P67775 AB451240;AB451365;ABBA01068763;ABBA01068764;ABBA01068765;AC104109;AK057424;AK097599;AMYH02012239;AV705728;BC000400;BC002657;BC019275;BC031696;BM786995;CH471062;CR457417;J03804;M60483;NM_002715;X12646 AAA36466;AAB38019;AAH00400;AAH02657;AAH19275;AAH31696;BAG51913;BAG53493;BAG70054;BAG70179;CAA31176;CAG33698;EAW62268;EAW62269;NP_002706;P67775 Hs.105818 1656545;1793516;1797170;1857445;2006814;2112220;2169375;2217820;7184476 D5S2601;D5S2786;PMC22838P1;PPP2CA;PPP2CA_3845;REN74323;RH68282;WI-18935 PP2Ac;PP2CA;PP2Calpha;RP-C OTTHUMP00000159382;PP2A-alpha;protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform;protein phosphatase 2A catalytic subunit, alpha isoform;protein phosphatase 2a, catalytic subunit, alpha isoform;replication protein C;serine/threonine protein phosphatase 2A, catalytic subunit, alpha isoform;serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform APPROVED protein-coding HGNC:9299 08912 176915 REVIEWED 7174985 PPP2R2DP1 protein phosphatase 2, regulatory subunit B, delta pseudogene 1 3 3 3 p 38027176 38028298 + 38092769 38093891 + 38051278 38052400 + 100327036 ABBA01024838;AC144536;AMYH02006564;NG_016292 pseudo HGNC:44544 INFERRED 733714 PPP2R2A protein phosphatase 2, regulatory subunit B, alpha The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 8 8 8 p21.2 25111391 25192579 + 26149007 26230196 + 26291491 26372680 + 6480464;6484113;6907045 10200280;10608806;10681496;10862698;11007961;11259128;11531413;11956189;12370081;12477932;1328247;14702039;15004009;15142377;15380617;15489334;15578586;15638722;15725353;15761952;15775987;16041367;16048649;16239222;16239230;16474850;16580887;16790090;16899564;17055435;17110338;17148452;17220478;17245430;17255109;17266553;17353931;17540176;17604273;17632056;17693407;18187620;18339811;1849734;18670647;18697906;18782753;18971272;19156129;19322201;19535438;19556239;19890961;20360068;20711181;21047956;21072166;21081666;21110914;21139048;21145461;21351466;21706016;21813648;21872824;21890473;21906983;22174317;22417654;22422068;22505724;22863883;22939629;22948661;22952844;23000965;23022380;23087057;23184937;23287597;23443559;23563607;23602568;23752268;23956138;23959478;24244166;24255178;24390425;24816145;24858343;9013886;9400615;9514514;9774674;9847399 5520 E5RFR9;E5RHQ2;E5RIY1;E5RJV1;E5RJV2;P63151 ABBA01005570;ABBA01005571;AC022911;AI814790;AK095153;AK123721;AK303981;AK314823;AMYH02017658;AMYH02017659;AMYH02017660;AY189686;BC041071;BX440554;CH471080;CR936829;DB451813;M64929;NM_001177591;NM_002717;XM_005273559;XM_005273560 AAA36490;AAH41071;AAO85219;BAG37345;BAG64899;EAW63577;EAW63578;EAW63579;EAW63580;NP_001171062;NP_002708;P63151;XP_005273616;XP_005273617 Hs.146339 1659616;1698078;1701502;1796562;2127480;2159042;5491597;5492316 MARC_23873-23874:1028298899:1;PPP2R2A_1255;Ppp2r2a;RH102571;RH104384;SHGC-36329;STS-M64929;WI-18898 B55-ALPHA;B55A;B55ALPHA;DKFZp686N05117;FLJ26613;FLJ41727;MGC52248;PR52A;PR55A OTTHUMP00000225159;OTTHUMP00000225160;protein phosphatase 2 (formerly 2A), regulatory subunit B (PR52), alpha isoform;protein phosphatase 2 (formerly 2a), regulatory subunit b (pr 52), alpha isoform;serine/threonine protein phosphatase 2A, 55 KDA regulatory subunit B, alpha isoform;serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform APPROVED protein-coding ENSG00000221914 HGNC:9304 09223 604941 REVIEWED 1351294 PPP2R2D protein phosphatase 2, regulatory subunit B, delta ENCODES a protein that exhibits protein phosphatase type 2A regulator activity (ortholog); INVOLVED IN exit from mitosis (ortholog); mitotic nuclear division (ortholog); regulation of catalytic activity (ortholog); PARTICIPATES IN hepatitis C virus infection pathway; mRNA decay pathway; Trypanosoma cruzi infection pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN protein phosphatase type 2A complex (ortholog); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; copper atom 10 10 10 q26.3 127392198 127414138 + 133747957 133770054 + 131900644 131969946 + 1580863;6480464;6907045;8554872 10819331;12477932;14702039;15164054;15489334;16169070;17148452;17207965;18697906;18782753;19156129;19615732;20360068;21081666;21906983;22174317;22539979;23135275;23851495;24816145 55844 F5GXJ6;H0YB06;Q66LE6;Q6IN90;Q6PEG1 AB040974;ABBA01006171;ABBA01006172;AF220046;AI521071;AK000402;AK001483;AK293065;AL162274;AL732395;AMYH02024059;BC047379;BC058076;BC060885;BC072402;BQ023669;CH471066;FP565171;KF455295;NM_001291310;NM_018461;NR_033191;XM_005277927;XM_006717914;XM_006717915;XR_428708;XR_428709 AAF67639;AAH47379;AAH58076;AAH72402;ADQ31990;BAA96065;BAF85754;BAG50921;EAW49145;EAW49146;EAW49147;NP_001278239;NP_060931;Q66LE6;XP_005277984;XP_006717977;XP_006717978 Hs.380372;Hs.657480 1645714;1675059;1675129;1687257;1725723;2125092 G62056;RH11280;RH80993;STS-W67510;WI-22094;WI-22366 MDS026 OTTHUMP00000020751;PP2A subunit B isoform B55-delta;PP2A subunit B isoform PR55-delta;PP2A subunit B isoform R2-delta;PP2A subunit B isoform delta;protein phosphatase 2, regulatory subunit B, delta isoform;serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform APPROVED protein-coding HGNC:23732 15172 613992 VALIDATED 732376 PPP2R2C protein phosphatase 2, regulatory subunit B, gamma The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 6223017 6284392 - 6322305 6565327 - 6320578 6563600 - 1580863;6480464;6907045;8554872 10574460;10945473;11007961;11531413;12136098;12477932;12912990;14702039;14998489;15578586;15638722;16041367;16048649;17266553;18069897;18782753;18971272;19156129;19734900;20308991;20379614;20601260;21351466;21822214;21906983;22422068;22664926;23287597;23493267;24126060;24189493;9013886;9400615;9514514;9847074 5522 D6R943;Q9Y2T4 AB209183;ABBA01012718;ABBA01012719;ABBA01012720;ABBA01012721;ABBA01012722;AC093323;AC114815;AC116317;AC122939;AF086924;AF145027;AJ328955;AK093115;AK122849;AK127386;AK296474;AK316003;AMYH02008664;AMYH02008665;AMYH02008666;AMYH02008667;AMYH02008668;AMYH02008669;AW955803;BC021735;BC032954;BC045682;BM551976;CH471131;DC327075;NG_029233;NM_001206994;NM_001206995;NM_001206996;NM_020416;NM_181876;XM_005247977;XM_005247978;XM_005247979 AAG39636;AAH32954;AAP97279;BAD92420;BAG52658;BAH12367;BAH14374;EAW82393;EAW82394;EAW82395;NP_001193923;NP_001193924;NP_001193925;NP_065149;NP_870991;Q9Y2T4;XP_005248034;XP_005248035;XP_005248036 Hs.479069 1339743;1657540;1663122;1670525;1685467;1768896;2110939;2119820;2126048;2128935;2131250;2168733;2177278;2178333;2180391;2187110;5014023;5015404;5015619;5016478;5022578;5037552;7186313;7186587 D11S3114;D13S1553;D1S1423;D4S1194;D4S1319;D4S1367;D4S431;D4S471;D4S815E;D8S2279;G01811;G01906;G33939;G33988;G34089;G34309;GDB:434012;L17705;RH94038;SHGC-51120;SHGC-59174;SHGC-8649 B55-GAMMA;IMYPNO1;MGC33570;PR52;PR55G IMYPNO;OTTHUMP00000115505;OTTHUMP00000115506;OTTHUMP00000217568;OTTHUMP00000217634;OTTHUMP00000217635;PP2A subunit B isoform B55-gamma;PP2A subunit B isoform PR55-gamma;PP2A subunit B isoform R2-gamma;PP2A subunit B isoform gamma;PP2A, subunit B, B-gamma isoform;PP2A, subunit B, B55-gamma isoform;PP2A, subunit B, PR55-gamma isoform;PP2A, subunit B, R2-gamma isoform;gamma isoform of regulatory subunit B55, protein phosphatase 2;phosphoprotein phosphatase 2A BR gamma regulatory chain;protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform;protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform;protein phosphatase 2A1 B gamma subunit;serine/threonine protein phosphatase 2A, 55 KDA regulatory subunit B, gamma isoform;serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform APPROVED protein-coding ENSG00000074211 HGNC:9306 09345 605997 REVIEWED 1319421 PPP2R3C protein phosphatase 2, regulatory subunit B'', gamma ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN activation of protein kinase activity (inferred); B cell homeostasis (inferred); positive regulation of B cell differentiation (inferred); PARTICIPATES IN mRNA decay pathway; FOUND IN centrosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; cyclosporin A 14 14 14 q13.2 15418500 15455350 - 35554678 35591868 - 35085472 35122662 - 6480464;6907045 12167160;12477932;14702039;15489334;15820313;16129705;17207965;20360068;20925653;21139048;21890473;21906983;22753944;23000965;24333728;8125298 55012 G3V228;G3V2K1;G3V3T9;G3V3V5;G3V561;G3V5U8;H0YJ16;H0YJC5;H0YJR2;H0YJV0;Q86US5;Q969Q6 ABBA01061497;ABBA01061498;AK000651;AK225447;AK225512;AK293717;AK310700;AK311337;AL049776;AL121594;AMYH02029005;AY157304;AY157305;AY518535;AY518536;AY518537;BC006823;BC010293;BC012563;BC037797;BC063438;BC100021;BX248043;CH471078;NM_017917;XM_005267782;XM_005267784;XM_006720181;XM_006720182;XM_006720183;XM_006720184 AAH06823;AAH10293;AAH12563;AAH63438;AAO17045;AAO17046;AAT44532;AAT44533;ADQ31745;BAA91308;BAG57148;CAD62352;EAW65886;EAW65887;EAW65888;EAW65889;EAW65890;NP_060387;Q969Q6;XP_005267839;XP_005267841;XP_006720244;XP_006720245;XP_006720246;XP_006720247 Hs.530712;Hs.621667 1847265;2150827;5015879;5020948;5021396;5022322;5024761;5037552;5118576 D11S2560;D11S3430;D8S2279;G35510;GDB:313783;GDB:314949;RH36905;RH69407;SHGC-53937 C14orf10;FLJ20644;G4-1;G5pr OTTHUMP00000178846;chromosome 14 open reading frame 10;protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma;protein phosphatase subunit G5PR;rhabdomyosarcoma antigen MU-RMS-40.6A;rhabdomyosarcoma antigen MU-RMS-40.6A/6C;rhabdomyosarcoma antigen Mu-RMS-40.6C;serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma APPROVED protein-coding ENSG00000092020 HGNC:17485 12622 615902 PROVISIONAL 1353441 PPP2R5B protein phosphatase 2, regulatory subunit B', beta The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008] 11 11 11 q12 62018213 62027919 + 64692143 64701950 + 64924193 64934478 + 1580863;6480464;6907045;8554872 10698523;11531413;11956189;12477932;12775419;14702039;15380617;15489334;15665512;16048649;16456541;16541024;16541025;17266553;18385213;18782753;18971272;21072166;21351466;22379092;23135275;23287597;7592815;8012384;8694763;8703017;8812429;8889548;9013886;9272177;9400615 5526 E9PNY3;E9PQN5;Q15173 ABBA01024139;AK092730;AMYH02024946;AP001187;BC045619;BE883575;BM665417;CH471076;L42374;NM_006244;XM_006718606;XM_006718607;Z58949 AAC37602;AAH45619;ABZ92527;EAW74324;EAW74325;NP_006235;Q15173;XP_006718669;XP_006718670 Hs.75199 1670249;2127007;2157902;2157904;2177669;2187134;5491477 A002D23;G19958;G33091;G33092;MARC_15219-15220:1012924404:3;RH11559;RH17836 B56B;FLJ35411;PR61B OTTHUMP00000230530;OTTHUMP00000230532;PP2A B subunit isoform B'-beta;PP2A B subunit isoform B56-beta;PP2A B subunit isoform PR61-beta;PP2A B subunit isoform R5-beta;protein phosphatase 2, regulatory subunit B', beta isoform;protein phosphatase 2, regulatory subunit b (b56), beta isoform;serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform;serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform APPROVED protein-coding ENSG00000068971 HGNC:9310 09038 601644 REVIEWED 1317550 PPP2R5A protein phosphatase 2, regulatory subunit B', alpha The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 1 q32.2-q32.3 185685982 185760829 + 212458879 212535205 + 212285537 212361863 + 1580863;6480464;6484113;6907045 10092233;10866685;11297546;11397791;11531413;11585828;11856313;11884620;11929874;11929880;11983168;11994459;12058047;12062430;12086851;12370081;12435421;12477932;12501214;14690447;15342556;15380617;15489334;15569306;16048649;16097049;16541024;16541025;16710414;17245430;17266553;17540176;18782753;18782775;18957415;18981217;19131971;19538941;20160490;20360068;20378546;20562864;21030067;21072166;21075214;21139048;21351466;21874008;21878643;21890473;23287597;23624058;23955003;24225947;24781523;7592815;8694763;8702385;8703017;8812429;8889548;9013886;9400615;9847399 5525 Q15172 AA425592;ABBA01048178;ABBA01048179;ABBA01048180;ABBA01048181;ABBA01048182;ABBA01048183;AK302202;AK312530;AL360091;AL451060;AMYH02002638;AMYH02002639;AMYH02002640;AMYH02002641;BC022474;BC110883;BM974076;BP326450;CH471100;L42373;NM_001199756;NM_006243 AAC37601;AAH22474;AAI10884;ABM83287;ABM86494;BAG35429;BAH13648;EAW93392;EAW93393;NP_001186685;NP_006234;Q15172 Hs.744012 2116033;2191163;2218588 MARC_15687-15688:1013522980:1;PPP2R5A_1274;SHGC-76301 B56A;MGC131915;PR61A OTTHUMP00000034891;PP2A B subunit isoform B'-alpha;PP2A B subunit isoform B56-alpha;PP2A B subunit isoform PR61-alpha;PP2A B subunit isoform R5-alpha;PP2A, B subunit, B' alpha isoform;PP2A, B subunit, B56 alpha isoform;PP2A, B subunit, PR61 alpha isoform;PP2A, B subunit, R5 alpha isoform;PR61alpha;protein phosphatase 2, regulatory subunit B (B56), alpha isoform;protein phosphatase 2, regulatory subunit B', alpha isoform;serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, alpha isoform;serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform APPROVED protein-coding ENSG00000066027 HGNC:9309 03384 601643 REVIEWED 1315869 PPP2R3A protein phosphatase 2, regulatory subunit B'', alpha This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010] 3 3 3 q22.1 134110687 134292965 + 135684515 135866752 + 135965673 136147910 + 1580863;6480464;6907045;8554872 10358086;10629059;11007961;11504734;11531413;11748221;12477932;12506124;12524438;15578586;15687260;15780175;16048649;16344560;16567647;16713569;17055435;17266553;17535922;18397887;1849734;18715506;18971272;19825976;21072166;21351466;22216198;23287597;8392071;9013886;9400615;9847399;9927208 5523 H7C1M1;Q06190 ABBA01059135;ABBA01059136;ABBA01059137;AC072039;AC092991;AK293012;AK298059;AK299544;AK302163;AK314243;AK316258;AL389975;AL599266;AMYH02007733;AMYH02007734;AMYH02007735;AMYH02007736;AMYH02007737;BC015034;BC029409;BC040158;BC065531;BE897340;CH471052;DB223168;DB378665;L07590;L12146;NG_029234;NM_001190447;NM_002718;NM_181897;XM_006713686 AAB02613;AAB02614;AAH15034;AAH29409;AAH65531;BAF85701;BAG36910;BAG60353;BAG61490;BAG63530;BAH14629;CAB97532;EAW79122;EAW79123;EAW79124;EAW79125;EAW79126;NP_001177376;NP_002709;NP_871626;Q06190;XP_006713749 Hs.518155 1653683;1657215;1684002;1768277;1858399;2086392;2170493;2173935 D3S3343;REN114452;RH17602;RH78965;RH80956;STS-N32916;STS-R74400;WI-14084 PPP2R3;PR130;PR72 OTTHUMP00000216419;OTTHUMP00000216420;OTTHUMP00000216421;PP2A subunit B isoform PR72/PR130;PP2A subunit B isoform R3 isoform;PP2A subunit B isoforms B''-PR72/PR130;PP2A subunit B isoforms B72/B130;PP2A, subunit B, R3 isoform;protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform;protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha;serine/threonine-protein phosphatase 2A 72/130 kDa regulatory subunit B;serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha APPROVED protein-coding ENSG00000073711 HGNC:9307 09225 604944 REVIEWED 1312396 PPP2R1B protein phosphatase 2, regulatory subunit A, beta This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 11 11 11 q23.2 108750797 108790353 - 111597632 111637169 - 111725304 111769101 - 1580863;6480464;6907045;7240710;8554872;8699517 10358086;10597236;10896920;11007961;11259605;11313745;11313937;11440634;11531413;11591705;11929880;11996789;12370081;12477932;12670497;12912990;1328247;14576831;14645548;14767517;15936019;16276521;16306228;16456541;16541024;16541025;17110338;17266553;17324501;17343570;17449237;17452356;17540176;17676665;18715871;18782753;19156129;19471022;19615732;19951945;20133745;20133760;20237496;20360068;20379614;20689807;20862322;21072166;21139048;21351466;21420167;2159327;21890473;21906983;21963094;21987572;22053931;22422068;22505724;22863883;22939629;23000965;23287597;23443559;23455922;23588898;23658844;23956138;24109239;24816145;8703017;9013886;9353299;9400615;9765152;9795170 5519 E9PHZ6;E9PNM7;E9PPI5;H0YDG7;P30154 ABBA01039814;ABBA01039815;ABBA01039816;AF083439;AF087438;AF163473;AK292275;AK293388;AK294716;AK296455;AK301705;AMYH02025574;AP000925;AP001781;BC027596;CH471065;DB527885;DC402587;EF445011;EF491803;EF491816;KF455506;M65254;NG_012117;NM_001177562;NM_001177563;NM_002716;NM_181699;NM_181700;XM_006718867;XM_006718868;XM_006718869;XM_006718870;XM_006718871;XM_006718872 AAA59983;AAC63525;AAC69624;AAG39644;AAH27596;ABM85033;ABM92223;ABW03339;ACA06046;ACA06047;BAF84964;BAG57867;BAG59103;BAG63177;BAH11499;EAW67150;EAW67151;NP_001171033;NP_001171034;NP_002707;NP_859050;NP_859051;P30154;XP_006718930;XP_006718931;XP_006718932;XP_006718933;XP_006718934;XP_006718935 Hs.269128;Hs.584790 1654826;1656049;1705982;1730757;2110673;2116184;2128040;2137012;2138022;2151475;2155153;2171341;2183746;5037552 A008R11;D11S4338;D11S966E;D8S2279;PPP2R1B_1854;RH69258;SHGC-78624;STS-F04139;STS-H27731;STS-N25323;STS-N33293;WI-11653;WI-14282;WI-15500 MGC26454;PP2A-Abeta;PR65B OTTHUMP00000234117;OTTHUMP00000234118;OTTHUMP00000234119;OTTHUMP00000234121;OTTHUMP00000234122;PP2A, subunit A, PR65-beta isoform;PP2A, subunit A, R1-beta isoform;protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform;protein phosphatase 2 (formerly 2a), regulatory subunit a (pr 65), beta isoform;protein phosphatase 2, structural/regulatory subunit A, beta;serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform APPROVED protein-coding ENSG00000137713 HGNC:9303 04384 211980;603113 REVIEWED 1604626 PPP2R3B protein phosphatase 2, regulatory subunit B'', beta Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B''. [provided by RefSeq, Apr 2010] X X;Y X;Y p22.33; Yp11.3 734571 788070 + 244668 297690 - 333933 386955 - 6480464;6907045;8554872 10508479;10629059;11173861;11593413;12370081;12477932;12605688;16344560;17207965;18782753;21139048;24250222;8889548;9847399 28227 C9JMU6;Q9Y5P8 AB209137;ABBA01055831;ABBA01055832;ABBA01055833;ABBA01055834;AF135016;AF155098;AF215839;AF215840;AI248426;AK293506;AL157501;AL732314;AL954664;AMYH02038637;AMYH02038638;AMYH02038639;AMYH02038640;BC009032;BC011180;BC063429;BF530463;BI828434;BK000521;BM666129;BM676246;BM715684;BU845905;BX000476;CB218994;CH471225;DA061573;NG_013257;NM_013239;XM_005274427;XM_005274428;XM_005274776;XM_005274777;XM_006724442;XM_006724863 AAD38515;AAD42864;AAH09032;AAH11180;AAH63429;ADQ31576;BAD92374;BAG56990;CAB75680;DAA00385;EAW66818;EAW66819;NP_037371;Q9Y5P8;XP_005274484;XP_005274485;XP_005274833;XP_005274834;XP_006724505;XP_006724926 Hs.124942 1849501;5021872;5022200;5022651 D11S2921;DXYS129;L18426;sY3084 FLJ60425;NY-REN-8;NYREN8;PPP2R3L;PPP2R3LY;PR48 NY-REN-8 antigen;OTTHUMP00000022818;PP2A, subunit B, PR48 isoform;protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta;serine/threonine protein phosphatase 2A, 48kDa regulatory subunit B;serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta APPROVED protein-coding ENSG00000167393 HGNC:13417 02276 300339 REVIEWED 1318076 PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 9 9 9 q34 102525511 102563513 + 131873183 131911225 + 129110949 129148946 + 1580863;6480464;6484113 10318862;10585862;10681496;10830164;10880964;11531413;11576548;11685209;11956189;12435421;12444089;12477932;12952889;14645548;15034937;15057556;15164053;15203218;15225643;15324659;15489334;15578586;15638722;15717329;15965230;16048649;16293617;16310392;16344560;16380387;16452482;16456541;16751776;16782712;16885030;16916641;16936753;17245428;17266553;17274640;17297438;17333320;17438131;17505062;18029348;18045992;18201571;18208556;18292600;18334487;18337751;18397887;18486982;18586097;18782753;18931662;18971272;19121623;19129191;19156129;19234487;19286927;19405949;19458393;19465001;19507191;19553685;19704001;19818709;19890961;19915589;19940183;20110348;20306465;20308788;20498628;20558741;20593489;20673369;21072166;21139048;21233840;21351466;21419339;21502318;21660042;21729530;21784851;21832049;21906983;21963094;21985334;22061964;22253878;22266860;22299660;22379092;22403409;22422068;22443683;22476099;22525275;22613722;22739989;22764226;22907757;23287597;23401853;23428800;23443539;23646285;23721711;23788636;23797602;23910645;24100351;24857551;24981783;24997451;3017441;7721943;8125298;8195217;8530035;8702385;8749392;8887688;9013886;9139659;9400615 5524 A6PVN5;A6PVN6;A6PVN7;A6PVN8;A6PVN9;B4DDQ6;B4DZF8;B7ZBP7;B7ZBP9;B7ZBQ0;C9IZ76;H0Y562;H0Y6E5;Q15257;Q5T948;Q5T949;Q68CR8 ABBA01043916;ABBA01043917;ABBA01043918;AF134185;AK222788;AK297202;AK302043;AK302897;AK307424;AK310328;AK310543;AL158151;AMYH02021731;AMYH02021732;AU125192;AU133279;BC002545;BC010497;BC011605;BC020581;BE732116;BG255640;BQ896712;BT020119;CD630703;CH471090;CR749810;DA052599;DA387148;DA737954;DB009663;DC375389;NG_029370;NM_001193397;NM_001271832;NM_021131;NM_178000;NM_178001;NM_178003;X73478;X86428;X86439 AAF24143;AAH02545;AAH11605;AAV38922;ABM83080;ABM85805;ABM86275;BAD96508;BAG59687;BAG63436;BAG64070;CAA51873;CAA60163;CAB77601;CAB77602;CAB77603;CAH18670;EAW87876;EAW87877;EAW87878;EAW87879;EAW87880;EAW87881;EAW87882;EAW87883;EAW87884;EAW87885;NP_001180326;NP_001258761;NP_066954;NP_821067;NP_821068;NP_821070;Q15257 Hs.400740 1712172;1726869;1730139;1796564;1801522;1803340;1804736;1804908;1805144;1805348;1805982;1810156;1811906;1813054;1814096;1815198;1815770;1816342;1817028;1817176;1817516;1817518;1818030;1818622;1819874;1820094;1821418;1822936;1825400;1827004;1827544;1828716;1829088;1832280;1833228;1833982;1836996;1842080;1843178;1845072;1846506;1851723;1930554;1930556;1930558;1930560;1930562;1930564;1930566;1930568;1930570;1930572;1930574;1930576;1930578;1930580;1930582;1930584;1930586;1930588;1930590;1930592;1930594;1930596;1930598;1930600;1930602;1930604;1930606;1930608;1930610;1930612;1930614;1930616;1930618;1930620;1930622;1930624;1930626;1930628;1930630;1930632;1930634;1930636;1930638;1930640;1930642;1930644;1930646;1930648;1930650;1930652;1930654;1930656;1930658;1930660;1930662;1930664;1930666;1930668;1930670;1930672;1930674;1930676;1930678;1930680;1930682;1930684;1930686;1930688;1930690;1930692;1930694;1930696;1930698;1930700;1930702;1930704;1930706;1930708;1930710;1930712;1930714;1930716;1930718;1930720;1930722;1930724;1930726;1930728;1930730;1930732;1930734;1930736;1930738;1930740;1930742;1930744;1930746;1930748;1930750;1930752;1930754;1930756;1930758;1930760;1930762;1930764;1930766;1930768;1930770;1930772;1930774;1930776;1930778;1930780;1930782;1930784;1930786;1930788;1930790;1930792;1930794;1930796;1930798;1930800;1930802;1930804;1930806;1930808;1930810;1930812;1930814;1930816;1930818;2142490;2177570;2208292;2208294;2208296;2208298;2208300;2208302;2208304;2208306;2208308;2208310;2208312;2208314;2208316;2208318;2208320;2208322;2208324;2208326;2208328;2208330;2208332;2208334;2208336;2208338;2208340;2208342 D9S1014E;D9S184E;ECD01639;ECD02566;ECD03300;ECD03389;ECD03515;ECD03621;ECD03944;ECD06070;ECD06957;ECD07546;ECD08077;ECD08634;ECD08923;ECD09213;ECD09563;ECD09638;ECD09808;ECD09809;ECD10071;ECD10375;ECD11007;ECD11120;ECD11793;ECD12556;ECD13807;ECD14617;ECD14888;ECD15485;ECD15671;ECD17278;ECD17756;ECD18138;ECD19662;ECD22243;ECD22797;ECD23753;ECD24474;G54136;G62677;PPP2R4_1069;REN36106;REN36107;REN36108;REN36109;REN36110;REN36111;REN36112;REN36113;REN36114;REN36115;REN36116;REN36117;REN36118;REN36119;REN36120;REN36121;REN36122;REN36123;REN36124;REN36125;REN36126;REN36127;REN36128;REN36129;REN36130;REN36131;REN36132;REN36133;REN36134;REN36135;REN36136;REN36137;REN36138;REN36139;REN36140;REN36141;REN36142;REN36143;REN36144;REN36145;REN36146;REN36147;REN36148;REN36149;REN36150;REN36151;REN36152;REN36153;REN36154;REN36155;REN36156;REN36157;REN36158;REN36159;REN36160;REN36161;REN36162;REN36163;REN36164;REN36165;REN36166;REN36167;REN36168;REN36169;REN36170;REN36171;REN36172;REN36173;REN36174;REN36175;REN36176;REN36177;REN36178;REN36179;REN36180;REN36181;REN36182;REN36183;REN36184;REN36185;REN36186;REN36187;REN36188;REN36189;REN36190;REN36191;REN36192;REN36193;REN36194;REN36195;REN36196;REN36197;REN36198;REN36199;REN36200;REN36201;REN36202;REN36203;REN36204;REN36205;REN36206;REN36207;REN36208;REN36209;REN36210;REN36211;REN36212;REN36213;REN36214;REN36215;REN36216;REN36217;REN36218;REN36219;REN36220;REN36221;REN36222;REN36223;REN36224;REN36225;REN36226;REN36227;REN36228;REN36229;REN36230;REN36231;REN36232;REN36233;REN36234;REN36235;REN36236;REN36237;REN36238;RH12702;STS-X86438;stSG628204;stSG628205;stSG628206;stSG628207;stSG628208;stSG628209;stSG628210;stSG628211;stSG628212;stSG628214;stSG628215;stSG628216;stSG628217;stSG628218;stSG628219;stSG628221;stSG628222;stSG628223;stSG628224;stSG628225;stSG628227;stSG628229;stSG628230;stSG628232;stSG628233;stSG628234 MGC2184;PP2A;PR53;PTPA OTTHUMP00000022333;OTTHUMP00000022334;OTTHUMP00000022335;OTTHUMP00000043295;OTTHUMP00000194822;OTTHUMP00000196049;OTTHUMP00000196051;PP2A phosphatase activator;PP2A subunit B' isoform PR53;PP2A, subunit B', PR53 isoform;phosphotyrosyl phosphatase activator;protein phosphatase 2A, regulatory subunit B' (PR 53);serine/threonine-protein phosphatase 2A activator;serine/threonine-protein phosphatase 2A regulatory subunit 4;serine/threonine-protein phosphatase 2A regulatory subunit B' APPROVED protein-coding ENSG00000119383 HGNC:9308 02858 600756 REVIEWED 1350999 PPP2R5CP protein phosphatase 2, regulatory subunit B', gamma pseudogene 3 3 3 p21.3 52386990 52388387 + 52407668 52409065 + 52373652 52375049 + 11863364 140921 ABBA01024509;AC092045;AF411591;AMYH02006800;NG_001307 1846887 RH67921 protein phosphatase 2, regulatory subunit b (b56), gamma isoform pseudogene APPROVED pseudo HGNC:17835 INFERRED 8662489 PPP3CB-AS1 PPP3CB antisense RNA 1 (head to head) 10 10 75255510 75256029 + 73495752 73505339 + 6480464 101929145 AL359074;AMYH02023336;XR_246131;XR_252765;XR_428769;XR_432602 USP54-AS1 ncrna HGNC:50750 MODEL 1347828 PPP3CC protein phosphatase 3, catalytic subunit, gamma isozyme Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 8 8 8 p21.3 21260229 21360247 + 22298483 22398657 + 22440970 22541144 + 1580863;1579951;6480464;6907045;8554872 15336966 10195903;11714752;12477932;12482669;12851458;1339277;14702039;15231831;15757646;15761153;15820226;15843870;17148452;17207965;17339875;17895921;18198266;18201382;18343007;18460741;18715757;18991849;19154138;19367581;20107831;20205591;20379146;20398908;20537399;20593291;21047202;21832049;21890473;21906983;21963094;21988832;22360420;23497497;23747857;24086760;6330098 5533 E5RJH4;G3V111;H0YB02;H0YB04;H0YC26;P48454 ABBA01005516;ABBA01005517;ABBA01005518;ABBA01005519;ABBA01005520;ABBA01005521;AC037459;AC087854;AK055013;AK299415;AMYH02017593;AY007249;BC004864;CH471080;DB517138;NM_001243974;NM_001243975;NM_005605;S46622;XM_005273564;XR_428312 AAB23769;AAG02563;AAH04864;ADQ32848;BAG61397;EAW63677;EAW63678;EAW63679;NP_001230903;NP_001230904;NP_005596;P48454;XP_005273621 Hs.731683 1656694;1674664;1792900;1857657;2108383 D8S2036;PMC166426P1;PPP3CC_8559;RH15891;STS-N89721 CALNA3;CNA3;PP2Bgamma CAM-PRP catalytic subunit;OTTHUMP00000224968;OTTHUMP00000224969;OTTHUMP00000224970;calcineurin, testis-specific catalytic subunit;calmodulin-dependent calcineurin A subunit gamma isoform;protein phosphatase 2B, catalytic subunit, gamma isoform;protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform;protein phosphatase 3 (formerly 2b), catalytic subunit, gamma isoform (calcineurin a gamma);serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform APPROVED protein-coding ENSG00000120910 HGNC:9316 00236 114107 REVIEWED 1350432 PPP3R1 protein phosphatase 3, regulatory subunit B, alpha ENCODES a protein that exhibits protein domain specific binding; INVOLVED IN apoptotic process (inferred); epithelial to mesenchymal transition (inferred); Fc-epsilon receptor signaling pathway (inferred); PARTICIPATES IN interleukin-12 signaling pathway; Alzheimer disease pathway; amyotrophic lateral sclerosis disease pathway; ASSOCIATED WITH heart left ventricle hypertrophy; ASSOCIATED WITH Cardiomyopathy, Dilated; Hypertrophy, Left Ventricular; Myocardial Ischemia (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred); sarcolemma (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; amiodarone 2 2 2 p15 68255597 68329209 - 68405979 68483392 - 68178857 68252519 - 1580706;1580707;1580708;1580709;1580728;1580729;1579951;6480464;6484113;6907045 15012912;15336966;15657416;15866158;16209992;16214533;16688406 10195903;10493818;10520753;10959817;11108966;11439183;11982754;12218175;12357034;12477932;12482669;15231831;15489334;15589160;15815621;16473827;16648474;17038582;17237284;17761791;18034994;18296442;18343007;18422742;18818667;18825932;19156168;19285944;19322201;19453261;19653005;19896943;19913121;20107831;20237496;20593291;20628086;20647544;20862329;21047202;21256111;21565611;21674474;21722668;21906983;21910968;21963094;21988832;22197822;22505724;22632162;22715070;22814600;22939629;23443559;23888774;24086760;2558868;6330098;7541044;8524402;8978785 5534 D3YTA9;F6U1T9;H7BYZ3;P63098 ABBA01075480;AC017083;AK307136;AK314893;AMYH02004006;AMYH02004007;AMYH02004008;BC027913;BM468705;BQ228635;CH471053;CR456938;NM_000945 AAH27913;AAY14715;BAG37407;CAG33219;EAW99878;NP_000936;P63098 Hs.280604 1662070;1694900;1722253;2108385;2117438;2158188;2170024 D2S2724;G44336;G60033;PPP3R1_8560;RH120881;RH12230;SHGC-30955 CALNB1;CNB;CNB1 OTTHUMP00000201952;OTTHUMP00000201960;OTTHUMP00000201961;calcineurin B, type I (19kDa);calcineurin subunit B type 1;protein phosphatase 2B regulatory subunit 1;protein phosphatase 2B regulatory subunit B alpha;protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I);protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I);protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform APPROVED protein-coding ENSG00000221823 HGNC:9317 03195 601302 VALIDATED 1315410 PPP2R5D protein phosphatase 2, regulatory subunit B', delta The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 44504572 44532321 + 42952218 42980083 + 42984499 43012345 + 1580863;6480464;6484113;6907045;8554872 11531413;12477932;12912990;14636580;14690447;14702039;15380617;15489334;15809743;16048649;16189514;16239230;16344560;16541024;16541025;16565220;17110335;17266553;17540176;18029348;18056802;18715871;18782753;18971272;19156129;19293187;19471022;19538941;20360068;20423611;20467438;21072166;21139048;21351466;21693764;21890473;21906983;22505724;22863883;22893788;22939629;23287597;23443559;23667531;24255178;24816145;7592815;8566219;8703017;8812429;9013886;9180267;9400615 5528 E9PFR3;H0Y8C4;H7C5Q9;H7C5Z1;Q14738 AB000634;AB000635;AB209861;AB451342;AB451357;ABBA01050698;ABBA01050699;AK122701;AK290604;AK291797;AK299696;AL136304;AMYH02013637;AMYH02013638;BC001095;BC001175;BC010692;CH471081;D78360;DA388594;L76702;NM_001270476;NM_006245;NM_180976;NM_180977 AAB69751;AAH01095;AAH01175;AAH10692;ABZ92528;BAA11372;BAA20381;BAA20382;BAD93098;BAF83293;BAF84486;BAG61599;BAG70156;BAG70171;EAX04130;EAX04131;EAX04132;EAX04133;EAX04134;NP_001257405;NP_006236;NP_851307;NP_851308;Q14738 Hs.533308 1655124;1729049;1796568;1797146;2128947;2130517;2177769;2189529;5123583 D6S1897;MEA;PPP2R5D_1544;RH144000;RH46598;STS-D78360;STS-L76702;UniSTS:143850;WI-18871 B56D;MGC2134;MGC8949 OTTHUMP00000016416;OTTHUMP00000216862;OTTHUMP00000216863;OTTHUMP00000216865;OTTHUMP00000216866;PP2A B subunit isoform B'-delta;PP2A B subunit isoform B56-delta;PP2A B subunit isoform PR61-delta;PP2A B subunit isoform R5-delta;PP2A, B subunit, B' delta isoform;PP2A, B subunit, B56 delta isoform;PP2A, B subunit, PR61 delta isoform;PP2A, B subunit, R5 delta isoform;Serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, delta isoform;protein phosphatase 2, regulatory subunit B (B56), delta isoform;protein phosphatase 2, regulatory subunit B', delta isoform;serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform APPROVED protein-coding ENSG00000112640 HGNC:9312 09039 601646 REVIEWED 733965 PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme ENCODES a protein that exhibits calcium ion binding; calmodulin binding; drug binding; INVOLVED IN cellular response to drug; social behavior; calcium ion-dependent exocytosis (ortholog); PARTICIPATES IN interleukin-12 signaling pathway; Alzheimer disease pathway; amyotrophic lateral sclerosis disease pathway; ASSOCIATED WITH Aortic Valve Stenosis; Hypertrophy, Left Ventricular; Hypertrophy, Right Ventricular (ortholog); FOUND IN calcineurin complex; plasma membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; arsenous acid 10 10 10 q22.2 68482159 68541381 - 75196563 75255782 - 73436805 73496024 - 1580703;1580704;1580705;1580706;1580727;1579951;1579956;6480464;6484113;6907045 14615291;15336966;15533858;16024800;16496058;16688406;9568714 11005320;11030334;11114196;11714752;11842093;11970967;12477932;12482669;12809556;1321058;15514034;15557343;16344560;1659808;17148452;17952113;18034994;18458866;1848109;19136967;19154138;19287956;19322201;19659461;19913121;19925438;20107831;20379146;20593291;20628086;20647544;20700529;21047202;21139048;21233773;21423799;21531385;21664352;21890473;21903422;21906983;21963094;22739212;22863883;23443559;23888774;24086760;24816145;24905733;2556704;2558868;6330098;7593193;8392375;8524402;8978785;9655484;9660947 5532 B7Z6P2;B7Z781;P16298;Q5F2F8;Q5F2G0 ABBA01020323;ABBA01020324;ABBA01020325;AJ488506;AK300701;AK301582;AL353731;AL359074;AMYH02023335;AMYH02023336;BC028049;BC035464;BU633160;BX114972;CA429703;CH471083;DA128707;DA192735;DA854064;DB479220;M29550;M29551;NM_001142353;NM_001142354;NM_001289968;NM_001289969;NM_021132;S40012;XM_005269944;XM_005269945 AAA35705;AAA35706;AAB22473;AAH28049;BAH13328;BAH13517;CAD32694;EAW54496;EAW54497;EAW54498;EAW54499;EAW54500;NP_001135825;NP_001135826;NP_001276897;NP_001276898;NP_066955;P16298;XP_005270001;XP_005270002 Hs.500067 1662698;1666328;1666793;1667285;1673037;1676722;1678097;1720295;1744343;2130885;2152908;2181658 D10S2331;D10S2400;G17405;G17468;GDB:451754;RH123896;RH45189;RH75440;RH98703;SHGC-31484;SHGC-37090;WI-19557 CALNA2;CALNB;CNA2;PP2Bbeta CAM-PRP catalytic subunit;OTTHUMP00000019823;OTTHUMP00000019824;calcineurin A beta;calcineurin A2;calmodulin-dependent calcineurin A subunit beta isoform;protein phosphatase 2B, catalytic subunit, beta isoform;protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform;protein phosphatase 3, catalytic subunit, beta isoform;protein phosphatase from PCR fragment H32;serine/threonine-protein phosphatase 2B catalytic subunit beta isoform APPROVED protein-coding ENSG00000107758 HGNC:9315 00235 114106 VALIDATED 730900 PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme ENCODES a protein that exhibits calmodulin binding; calmodulin-dependent protein phosphatase activity; drug binding; INVOLVED IN cellular response to drug; protein dephosphorylation; response to calcium ion; PARTICIPATES IN interleukin-12 signaling pathway; Alzheimer disease pathway; amyotrophic lateral sclerosis disease pathway; ASSOCIATED WITH Brain Injuries (ortholog); Cardiomegaly (ortholog); Huntington Disease (ortholog); FOUND IN cytoplasm; nucleus; INTERACTS WITH 17beta-estradiol; 4-hydroxynon-2-enal; 5-fluorouracil 4 4 4 q24 99241833 99567826 - 101944587 102268655 - 101023430 101347471 - 1580700;1580701;1580702;734902;1580725;1580726;1300048;1580863;1579951;1302567;1579956;6480464;6483320;6483311;6484113;6907045 12515860;14762344;15336966;15537502;15671033;16799071;19733666;19751097;7593193;9489698;9568714 10089876;10195903;10861295;11005320;11076863;11114196;11316738;11439183;11478781;11513882;11714752;11842093;12021260;12063245;12102656;12135494;12218175;12477932;12482669;12510191;12574411;12577067;12586544;12809556;14704270;15454081;15489334;15489336;15489953;15671020;15757646;15955804;16150694;16189514;16381901;1659808;17102134;17320203;17474147;17478429;18029348;18296442;18628988;18660489;18815128;19034380;19154138;19285944;19458075;19492085;19879877;19913121;20107831;20379146;20379614;20413672;20422345;20501444;20514436;20590401;20593291;20605778;20628086;20647544;20700529;21047202;21070662;21139048;21233773;21420386;2162844;21647268;21674474;21785830;21890473;21900206;21903422;21906983;21963094;21979947;22100452;22164265;22270398;22285318;22360420;22506312;22688515;22691791;22715070;22739212;22763476;22863883;22939629;23000965;23118980;23317196;23428871;23443559;23744075;23824189;23888774;24086760;24191726;24298017;24514567;24816145;24905733;2556704;2848250;6330098;7528941;7543369;8392375;8521476;8524402;8978785;9109491;9655484;9765270;9880537 5530 E7ETC2;E9PK68;E9PPC8;H0YAB4;Q08209 AB451338;AB451487;ABBA01063687;ABBA01063688;ABBA01063689;AC092671;AK290532;AL353950;AMYH02009807;AMYH02009808;AMYH02009809;AP001816;AP001870;AP001939;AW973358;AY904364;BC025714;BC098424;CH471057;EU192652;EU192653;J05480;KC876894;L14778;NM_000944;NM_001130691;NM_001130692 AAA02631;AAA35634;AAH25714;AAY17314;ABW74484;ABW74485;BAF83221;BAG70152;BAG70301;CAB89253;CAL38363;CAL38589;EAX06123;EAX06124;EAX06125;NP_000935;NP_001124163;NP_001124164;Q08209 Hs.435512 1341309;1657678;1674041;1674043;1677362;1687299;1693298;1712541;1721323;1726477;1727209;1747815;1752133;1752587;1755887;1776361;1776603;2125427;2125429;2155141;2161277;2164652;2173065;2178503;2190553;5022024 D4S1591;EST26A4-T;G42352;G59661;G62618;G62859;G66787;J05479;PPP3CA;RH25535;RH66646;RH98934;SHGC-106093;SHGC-106455;SHGC-142728;SHGC-19097;SHGC-50332;SHGC-67255;SHGC-67693;SHGC-67753;SHGC4-996;STS-N27154;WI-16419;WI-18296;WI-18743;WI-20975 CALN;CALNA1;CCN1;CNA1;PPP2B CALNA;CAM-PRP catalytic subunit;OTTHUMP00000165327;OTTHUMP00000165328;OTTHUMP00000219549;OTTHUMP00000219550;OTTHUMP00000219551;calcineurin A alpha;calmodulin-dependent calcineurin A subunit alpha isoform;protein phosphatase 2B, catalytic subunit, alpha isoform;protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform;protein phosphatase 3 (formerly 2b), catalytic subunit, alpha isoform (calcineurin a alpha);serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform APPROVED protein-coding ENSG00000138814 HGNC:9314 00234 114105 VALIDATED 1346251 PPP3R2 protein phosphatase 3, regulatory subunit B, beta ENCODES a protein that exhibits calcium ion binding (inferred); PARTICIPATES IN Alzheimer disease pathway; amyotrophic lateral sclerosis disease pathway; apoptotic cell death pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; (+)-pilocarpine (ortholog); (S)-nicotine (ortholog) 9 9 9 q31.1 74868152 74871538 - 104353897 104357283 - 101591615 101595001 - 1579951;6480464;6907045;8554872 15336966 12477932;12482669;14702039;15489334;15865209;16961774;1718268;17230191;17324936;17531200;17684544;17892862;19156168;19913121;20107831;20593291;20628086;21988832;24086760 5535 B4DYQ6;Q96LZ3 ABBA01042872;AF085237;AF145026;AF400667;AK057524;AL591377;AMYH02021355;BC030595;BC066299;CH471105;HC007224;HC044525;NM_147180 AAH30595;AAH66299;AAL40395;AAP57772;AAP97278;ADZ15934;BAB71521;CBH19417;CBH30592;EAW58961;NP_671709;Q96LZ3 Hs.151167 1683429 RH91980 CBLP;CBLP-like;CNBII;PPP3R1-like;PPP3RL OTTHUMP00000021813;calcineurin B, type II (19kDa);calcineurin B-like protein;calcineurin BII;calcineurin subunit B type 2;protein phosphatase 2B regulatory subunit 2;protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), beta isoform (calcineurin B, type II);protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, beta isoform (calcineurin B, type II);protein phosphatase 3 (formerly 2B), regulatory subunit B, beta isoform;protein phosphatase 3 regulatory subunit B beta isoform;protein phosphatase 3, regulatory subunit B (calcineurin B)-like APPROVED protein-coding ENSG00000188386 HGNC:9318 10164 613821 PROVISIONAL 1319620 PPP2R5C protein phosphatase 2, regulatory subunit B', gamma The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 14 14 14 q32.31 82282956 82448834 + 102226910 102394329 + 101760573 101927992 + 1580863;6480464;6907045;8554872 10508479;10675325;10698523;11531413;11863364;11929880;11956189;11959144;12297508;12477932;1328865;15380617;15632055;15778281;16048649;16344560;16456541;16524888;16541024;16541025;16580887;16717086;17174897;17245430;17266553;17540176;17663574;17967874;18782753;18971272;19156129;20360068;20379614;20448040;20473327;20663923;21072166;21139048;21351466;21460856;21548944;21832049;21906983;22315229;22348058;22797925;22863883;22990118;23287597;23443559;23667531;23723076;23941244;24250222;24797263;24816145;7584026;7584044;7592815;7607250;8617797;8694763;8703017;8812429;9013886;9400615 5527 G3V292;G3V2U3;G3V5T2;H0YJ12;H0YJ35;H0YJ49;H0YJ75;H0YJU0;H0YJZ3;H0YK25;H0YK26;H0YN58;H0YN84;H0YNJ3;H0YNR8;Q13362;Q96B13 AA487513;AA716736;AB451341;ABBA01048503;ABBA01048504;ABBA01048505;ABBA01048506;AI282996;AI692258;AK131391;AK302470;AK315072;AL118558;AL137779;AL834350;AMYH02029881;AMYH02029882;AMYH02029883;AMYH02029884;AMYH02029885;AMYH02029886;AMYH02029887;AMYH02029888;AMYH02029889;AY052369;BC016183;BC051442;BI560029;BQ006619;BX248254;CH471061;D26445;DA853338;KC877536;L42375;NM_001161725;NM_001161726;NM_002719;NM_178586;NM_178587;U37352;XM_005267819;XM_005267820;XM_005267822;XM_005267823;XM_005267824;XM_005267826;XM_005267827;Z69030 AAC37603;AAC50387;AAH16183;AAL14777;AAL14778;AAL14779;BAA05465;BAD18542;BAG63760;BAG70155;CAA93154;CAD62582;EAW81752;EAW81753;EAW81754;EAW81755;EAW81756;EAW81757;NP_001155197;NP_001155198;NP_002710;NP_848701;NP_848702;Q13362;XP_005267876;XP_005267877;XP_005267879;XP_005267880;XP_005267881;XP_005267883;XP_005267884 Hs.368264 1339997;1672121;1675299;1676013;1677192;1722089;1759225;1773123;1796566;1846887;1855846;2130454;2132337;2162483;2163399;2164221;2164223;2175125;5037552 A002C01;D14S1051;D14S1184;D8S2279;G19911;G35593;G35643;G60086;PPP2R5C_460.2;RH25280;RH44791;RH67921;RH68390;RH91926;SHGC-150905;WI-11415;WI-13578;WI-16879;WI-18224 B56G;MGC23064;PR61G B' alpha regulatory subunit;OTTHUMP00000246562;OTTHUMP00000246563;OTTHUMP00000246564;OTTHUMP00000246565;OTTHUMP00000246642;OTTHUMP00000246643;PP2A B subunit isoform B'-gamma;PP2A B subunit isoform B56-gamma;PP2A B subunit isoform PR61-gamma;PP2A B subunit isoform R5-gamma;protein phosphatase 2, regulatory subunit B (B56), gamma isoform;protein phosphatase 2, regulatory subunit B', gamma isoform;renal carcinoma antigen NY-REN-29;serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform APPROVED protein-coding ENSG00000078304 HGNC:9311 03385 601645 REVIEWED 8694611 PPP4R1-AS1 PPP4R1 antisense RNA 1 18 18 p11.22 9615262 9619361 + 9613300 9619363 + 101927323 AP000902;BX108181;HG509741;HY048010;NR_110773;NR_110774;XR_243830;XR_430057;XR_430058 Hs.151204 ncrna ENSG00000263627 HGNC:51112 VALIDATED 1313814 PPP2R5E protein phosphatase 2, regulatory subunit B', epsilon isoform The protein encoded by this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] 14 14 14 q23.1 43892051 44060782 - 63839838 64010095 - 63373892 63543361 - 1580863;6480464;6907045;8554872 11531413;12477932;15034937;15231748;15380617;15489334;16048649;16541024;16541025;17266553;17297438;17540176;18029348;18782753;18854154;19156129;19322201;19773383;19890961;20360068;20562864;20862322;20889715;21072166;21139048;21351466;21659360;21699783;21832049;21906983;22190034;22379092;22863883;23000965;23287597;23443559;23812941;23956138;24204789;24816145;7592815;8694763;8703017;8812429;9013886;9400615 5529 B7Z5X1;B7Z7C0;Q16537;Q59EK0 AA782601;AB209811;AB451233;AB451358;ABBA01018323;ABBA01018324;ABBA01018325;ABBA01018326;ABBA01018327;ABBA01018328;ABBA01018329;AK299520;AK301796;AK313500;AK316430;AL118555;AL132992;AL136038;AMYH02029336;AMYH02029337;AMYH02029338;AMYH02029339;AW134792;BC013154;BC034994;BC048305;BC056156;BC064358;BC073873;BC092477;BC093766;BC101479;BC143231;BC143234;BQ439131;CB989123;CH471061;CK820060;L76703;NM_001282179;NM_001282180;NM_001282181;NM_001282182;NM_006246;NR_104104;Z69029 AAB69752;AAH48305;AAH64358;AAH92477;AAH93766;AAI01480;AAI43232;AAI43235;ABZ92529;BAD93048;BAG70047;BAG70172;BAH13057;BAH13556;BAH14801;CAA93153;EAW80826;EAW80827;NP_001269108;NP_001269109;NP_001269110;NP_001269111;NP_006237;Q16537 Hs.334868;Hs.594347 1851242;2116448;2127206;2128554;2180556;2182315;2218590 G35507;G35697;G35845;G35883;PPP2R5E_2052;SHGC-31030;STS-T67437 OTTHUMP00000179057;OTTHUMP00000245210;PP2A B subunit isoform B'-epsilon;PP2A B subunit isoform B56-epsilon;PP2A B subunit isoform PR61-epsilon;PP2A B subunit isoform R5-epsilon;PP2A, B subunit, B' epsilon;PP2A, B subunit, B56 epsilon;PP2A, B subunit, PR61 epsilon;PP2A, B subunit, R5 epsilon;epsilon isoform of regulatory subunit B56, protein phosphatase 2A;protein phosphatase 2, regulatory subunit B (B56), epsilon isoform;serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, epsilon;serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform APPROVED protein-coding ENSG00000154001 HGNC:9313 09040 601647 REVIEWED 1354233 PPP4R1L protein phosphatase 4, regulatory subunit 1-like (pseudogene) INTERACTS WITH methyl methanesulfonate 20 20 20 q13.32 53548275 53624960 - 56807833 56884495 - 58232777 58309439 - 1580863;6480464 11483580;11780052;12477932;14702039;21890473;21906983 55370 Q9P1A2 ABBA01005981;AK057583;AK299330;AL035455;AL354776;AL354834;AL833409;AMYH02037361;AMYH02037362;AMYH02037363;BC100979;BC100980;CH471077;CR994964;CX783537;NR_003505 BAB71529;BAG61336;EAW75498;EAW75499;EAW75500;EAW75501;Q9P1A2 Hs.473179 1781144 stdJ646G2SP6 C20orf192;PPP4R1P1;PRO1085 APPROVED pseudo HGNC:15755 17895 VALIDATED 1316433 PPP4R2 protein phosphatase 4, regulatory subunit 2 ENCODES a protein that exhibits protein binding, bridging; protein phosphatase type 4 regulator activity; INVOLVED IN regulation of catalytic activity; regulation of double-strand break repair via homologous recombination; FOUND IN nucleus; protein phosphatase 4 complex; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 3 3 3 p13 72980269 73049174 + 73045985 73118349 + 72996968 73065860 + 1580863;6480464 10769191;12477932;12668731;16085932;16159877;17353931;18029348;18614045;18715871;19156129;20154705;20876121;21890473;21963094;21987572;22505724;22559936;22863883;22939629;24250222;24816145 151987 C9IZ04;C9IZF4;F8WCA1;F8WDK3;H7C559;Q9NY27 ABBA01030958;ABBA01030959;AC098481;AC103559;AF327345;AJ271448;AK289901;AL833216;AMYH02007066;BC100281;BC110889;BC128136;BC128137;CH471055;NM_174907 AAI00282;AAI10890;AAI28137;AAI28138;AAL56006;BAF82590;CAB93534;EAW65530;NP_777567;Q9NY27 Hs.431092 1670062;1774342;1856570;2117136;2135690;2149822;2153790;2164648;2170882;2170884;5092332;5093786;5124466 A006E10;A009W35;D3S4104;G16523;G20739;G32923;G42176;RH47287;RH65706;RH66193;SHGC-77110;STS-H77570;WI-18114 MGC131930;PP4R2 OTTHUMP00000213543;OTTHUMP00000213546;serine/threonine-protein phosphatase 4 regulatory subunit 2 protein-coding HGNC:18296 11453 613822 PROVISIONAL 2293110 PPP6CP protein phosphatase 6, catalytic subunit pseudogene X X X q22.3 109360979 109361473 - 108881339 108881833 - 109638110 109638604 - 16276083 100144631 ABBA01043481;AL118496;AMYH02040225;NG_007543 pseudo HGNC:34077 INFERRED 735851 PPP4R1 protein phosphatase 4, regulatory subunit 1 This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 18 18 18 p11.22 9431022 9498791 - 9546789 9614605 - 9546791 9614607 - 1580863;6480464;8554872 10026142;11729228;12477932;14702039;15489334;15805470;16085932;17043677;17353931;18347064;18715871;19156129;20379614;21139048;21890473;21906983;21963094;22505724;22863883;23000965;23084358;8619474;9110174 9989 F8WAJ9;J3KRU1;J3KSB0;J3KSH2;J3KSS1;J3QL26;J3QLA6;J3QQV0;J3QRV2;Q8TF05 ABBA01049949;ABBA01049950;ABBA01049951;AF100744;AF111106;AF200478;AI621152;AK025509;AK027064;AK292538;AK293869;AK295533;AK315106;AMYH02034288;AMYH02034289;AP000902;AP001381;AP005432;AY486333;BC060829;CH471113;DR006046;NM_001042388;NM_005134;NR_052003;U79267;XR_430048 AAB50211;AAD09818;AAD43008;AAH60829;AAL78298;AAS59409;BAF85227;BAG37566;BAG57259;BAG58445;EAX01598;EAX01599;EAX01600;NP_001035847;NP_005125;Q8TF05 Hs.743236 1674300;2118422;2123557 D18S926E;RH11744;WI-13171 MEG1;PP4(Rmeg);PP4R1 OTTHUMP00000174684;OTTHUMP00000174685;serine/threonine phosphatase 4;serine/threonine-protein phosphatase 4 regulatory subunit 1 APPROVED protein-coding ENSG00000154845 HGNC:9320 604908 REVIEWED 1344077 PPP4R4 protein phosphatase 4, regulatory subunit 4 The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The function of this particular gene product has not been determined. Alternative splicing has been observed for this gene and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 14 14 14 q32.2 74694419 74799845 + 94640649 94746092 + 94174312 94279755 + 6480464;8554872 10997877;11491282;12477932;15014966;18029348;18715871;19156129;24250222;9989501 57718 G3V422;G3V431;G3V516;Q6NUP7 AB046842;ABBA01030418;AK303722;AL117259;AL121838;AMYH02029782;BC002650;BC068491;BI546744;CH471061;DB480905;NM_020958;NM_058237;XM_005267930;XM_005267931;XM_006720222;XM_006725168;XM_006725169;XM_006725170 AAH02650;AAH68491;BAB13448;BAG64698;EAW81561;EAW81562;EAW81563;NP_066009;NP_478144;Q6NUP7;XP_005267987;XP_005267988;XP_006720285;XP_006725231;XP_006725232;XP_006725233 Hs.259599 1685624;1730271;2177375;7187071 D14S91E;RH27936;WI-11227 CFAP14;KIAA1622;PP4R4 HEAT-like repeat-containing protein;OTTHUMP00000245853;OTTHUMP00000245854;cilia and flagella associated protein 14;serine/threonine-protein phosphatase 4 regulatory subunit 4 APPROVED protein-coding ENSG00000119698 HGNC:23788 13878 REVIEWED 734407 PPP6C protein phosphatase 6, catalytic subunit This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008] 9 9 9 q33.3 98556786 98600152 - 127908852 127952218 - 125146573 125189939 - 1580863;6480464;8661242 24002223 12477932;14743216;15489334;15761153;16085932;16276083;16344560;16716191;16769727;17079228;17314511;17384681;17568194;18186651;19198648;19322201;19621075;19626039;19955178;20065038;21139048;21187329;21415862;21451261;21481188;21890473;21906983;21963094;21987572;22174317;22268729;22505724;22715043;22863883;22939629;22990118;23000965;23349634;23383273;23438482;23443559;23729733;23864707;23956138;24063632;24064353;24250222;24255178;24457600;24816145;8889548;9013334;9143513;9647778 5537 B7Z3E2;O00743;Q5T1S7 AA251321;ABBA01043775;ABBA01043776;AF035158;AK295190;AK295752;AK299087;AK312332;AK316527;AL445930;AMYH02021644;AMYH02021645;BC006990;BT019708;CB250498;CH471090;DB037210;DC307002;DC334216;DC369815;NM_001123355;NM_001123369;NM_002721;X92972;XM_006717175 AAD45400;AAH06990;AAV38514;BAG35253;BAH12005;BAH12178;BAH12945;BAH14898;CAA63549;EAW87611;EAW87612;EAW87613;NP_001116827;NP_001116841;NP_002712;O00743;XP_006717238 Hs.744091 1652086;1697208;1735862;1772268 D9S991E;RH102096;STS-N25718;WI-13793 FLJ92648;MGC12249;PP6;PP6C OTTHUMP00000022122;serine/threonine protein phosphatase catalytic subunit;serine/threonine-protein phosphatase 6 catalytic subunit APPROVED protein-coding ENSG00000119414 HGNC:9323 02141 612725 REVIEWED 1322857 PPP6R1 protein phosphatase 6, regulatory subunit 1 Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] 19 19 19 q13.42 52782683 52799998 - 55741147 55770038 - 55229779 55259030 - 6480464;8554872 10470851;12477932;14743216;15489334;16196087;16716191;16769727;18029348;18186651;19615732;19621075;20065038;21187329;21890473;21900206;21906983;21963094;22298787;22505724;22939629;22990118;23022380;23667531;23752268;23956138;24250222;24255178;24778252;24816145 22870 K7EM28;Q9UPN7 AB029038;ABBA01068115;AC010327;AC116342;AK126810;AK297152;AL544921;AMYH02036457;BC002799;BC007629;BC068014;BC094753;BC111980;BC113443;BG772019;BX362839;CH471135;NM_014931;XM_005258669;XM_005258670;XM_006723090 AAH02799;AAH07629;AAH68014;AAH94753;BAA83067;BAG59651;EAW72352;EAW72353;EAW72354;NP_055746;Q9UPN7;XP_005258726;XP_005258727;XP_006723153 Hs.515610 1341926;2155364 D19S605;RH48409 KIAA1115;MGC138185;MGC142003;PP6R1;SAP190;SAPS1 SAPS domain family, member 1;serine/threonine-protein phosphatase 6 regulatory subunit 1 APPROVED protein-coding ENSG00000105063 HGNC:29195 17207 610875 VALIDATED 6783693 PPP5D1 PPP5 tetratricopeptide repeat domain containing 1 ENCODES a protein that exhibits phosphoprotein phosphatase activity (inferred); INVOLVED IN protein dephosphorylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH valproic acid; 2,4-dinitrotoluene (ortholog); ammonium chloride (ortholog) 19 19 19 43787575 43907983 - 46984045 47104457 - 46480788 46601200 - 6480464;8554872 14702039;16344560;8889548 100506012 E7EU14;M0R196 ABBA01040978;ABBA01040979;ABBA01040980;AC011484;AC011551;AC093503;AK094504;AMYH02036225;AMYH02036226;AMYH02036227;AMYH02036228;AMYH02036229;AMYH02036230;AW295427;BM718195;BU741810;DA130492;KF456590;NM_001205281;XM_005258397;XM_006722960;XM_006722961 BAG52877;E7EU14;NP_001192210;XP_005258454;XP_006723023;XP_006723024 Hs.671661 1335826;1339420;1707512;1767543;1856416;2120044;5017170;5109281;7186912 D19S412;D1S1425;D7S1525;L29953;SGC31894;SHGC-84557;STS-AA022541;WI-18552 PPP5 TPR repeat domain-containing protein 1;serine/threonine-protein phosphatase 5-like protein-coding ENSG00000230510 HGNC:44209 VALIDATED 6482761 PPP6R2P1 protein phosphatase 6, regulatory subunit 2 pseudogene 1 21 21 q11.2 15379456 15387163 + 14007135 14014842 + 100631381 ABBA01203157;AP001634;KF456991;NG_029318 pseudo HGNC:39605 INFERRED 1352781 PPP4C protein phosphatase 4, catalytic subunit ENCODES a protein that exhibits protein serine/threonine phosphatase activity; INVOLVED IN dephosphorylation; regulation of double-strand break repair via homologous recombination; PARTICIPATES IN ataxia telangiectasia-mutated (ATM) signaling pathway; FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH (+)-catechin; acetylsalicylic acid; all-trans-retinoic acid 16 16 16 p11.2 72699024 72708334 - 30087297 30096698 + 30075976 30085377 + 6480464;8661242 24002223 10026142;10769191;12477932;12668731;1336397;15073167;15331607;15364934;15489334;15805470;16085932;16159877;17353931;18029348;18347064;18424272;18487071;18614045;18634786;18715871;18758438;19156129;19242545;19322201;19539371;20154705;20544796;20876121;21139048;21145461;21423269;21900206;21906983;21987572;22053931;22491012;22665577;22732494;22863883;23084358;23671329;23830831;23966160;24109239;24265311;24362026;24711418;25027693;8384557;9177794;9359419;9647778;9837938 5531 H3BPN5;H3BTA2;H3BV22;H3BVE3;I3L4X0;P60510 ABBA01013105;AC093512;AC243947;AF097996;BC001416;BT019746;CH471238;NM_002720;X70218;XM_005255418;XM_005255419;XM_005255420;XM_005255421;XM_006721061 AAC96318;AAH01416;AAV38551;ABM82873;ABM86060;CAA49753;EAW79928;EAW79929;EAW79930;EAW79931;NP_002711;P60510;XP_005255475;XP_005255476;XP_005255477;XP_005255478;XP_006721124 Hs.534338 1667477;1687375;1740655;2109691 D16S3225;D20S1002;PPP4C_8558;RH70885 PP-X;PP4;PP4C;PPH3;PPP4;PPX OTTHUMP00000162993;protein phosphatase 4 (formerly X), catalytic subunit;protein phosphatase X, catalytic subunit;serine/threonine-protein phosphatase 4 catalytic subunit APPROVED protein-coding ENSG00000149923 HGNC:9319 03615 602035 PROVISIONAL 68614 PPP5C protein phosphatase 5, catalytic subunit This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] 19 19 19 q13.3 43655283 43699097 + 46850251 46896238 + 46346994 46390975 + 1580863;6480464;6907045;8661232;8693745;8554872 20875921;21533982 10400612;11504734;11689443;12176367;12435421;12477932;12519780;12522145;12761501;1330687;14702039;14734805;14764652;15057824;15155720;15218033;15328343;15383005;15489334;15577939;15664193;15735747;16083881;16169070;16260606;16344560;16531226;16537434;16790549;16892053;16954377;17043677;17084641;18029348;18280813;18547097;18781797;19176521;19586900;19615732;19875381;19948726;20029029;20661446;21139048;21144835;21235734;21360678;21706016;21832049;21900206;21906983;21921034;21963094;21987572;22379092;22399290;22592921;22863883;22939629;23102700;23128233;23184943;23352616;23602568;24250222;24327656;24654937;24816145;25036637;7925273;8125298;8561788;8666404;9195923;9383998;9405394;9482716 5536 A8MU39;B7Z1I1;H0YDU8;P53041 AB209615;ABBA01040969;ABBA01040970;AC007193;AK094241;AK223222;AK293402;AK293475;AK297095;AK312683;AMYH02036218;AMYH02036219;BC000750;BC001831;BC001970;BT007275;CH471126;DA545760;NG_028163;NM_001204284;NM_006247;U25174;X89416;X92121 AAB60384;AAD22669;AAH00750;AAH01831;AAH01970;AAP35939;BAD92852;BAD96942;BAG35563;BAG56909;BAG59608;BAH11517;CAA61595;CAA63089;EAW57415;EAW57416;EAW57417;NP_001191213;NP_006238;P53041 Hs.654604 1788616;2191517 AW558946;MARC_24308-24309:1030110035:1 FLJ36922;FLJ55954;PP-T;PP5;PPP5;PPT OTTHUMP00000165833;OTTHUMP00000165834;OTTHUMP00000233212;Serine/Threonine phosphatase;protein phosphatase T;serine/threonine-protein phosphatase 5 APPROVED protein-coding ENSG00000011485 HGNC:9322 02805 600658 REVIEWED 7243718 PPT2-EGFL8 PPT2-EGFL8 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring PPT2 (palmitoyl-protein thioesterase 2) and EGFL8 (EGF-like-domain, multiple 8) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 6 6 p 32121776 32136062 + 32153999 32168285 + 6480464 20967262;22359512;23362303;9341199 100532746 A2ABN6;H3BNV4 AB209572;ABBA01038106;ABBA01038107;ABBA01038108;AF020544;AK290473;AK296648;AK307427;AL662828;AL662884;AL845464;AMYH02013468;AMYH02013469;BX284686;BX927239;CR753803;CR812478;CR933878;NR_037861 AAB80731;BAD92809;BAF83162;BAH12410 Hs.731888 1675331;2124218;2136027 D6S1154E;D6S1412;RH91426 ncrna ENSG00000258388 HGNC:48343 VALIDATED 1604734 PPTC7 PTC7 protein phosphatase homolog (S. cerevisiae) ENCODES a protein that exhibits metal ion binding (inferred); phosphoprotein phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 12 12 12 q24.11 110598937 110647770 - 110972237 111021064 - 110534432 110583259 - 6480464 12477932;15177553;19322201;20877624;21906983;24250222 160760 Q8NI37 ABBA01005111;ABBA01005112;AC002350;AF385435;AK124744;AMYH02027186;AMYH02027187;AY357944;BC111551;CH471054;CR749216;NM_139283 AAI11552;AAM43836;AAQ57274;BAG54087;CAH18073;EAW97927;EAW97928;NP_644812;Q8NI37 Hs.13854 1659029;1664138;1678025;1678555;1736196;2149293;2181962 D12S1143E;D12S1451;RH68086;RH68687;RH91547;RH98858;SGC35037 DKFZp686M07120;MGC133072;TA-PP2C;TAPP2C OTTHUMP00000241442;T-cell activation protein phosphatase 2C-like;protein phosphatase PTC7 homolog protein-coding HGNC:30695 18141 609668 PROVISIONAL 1320168 PPRC1 peroxisome proliferator-activated receptor gamma, coactivator-related 1 The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 10 10 10 q24.32 97633715 97651011 + 103892787 103910090 + 102132994 102150333 + 6480464;8554872 11340167;11943463;12477932;12611894;14550271;14702039;14722127;15684387;16385451;16511594;17341490;17390079;17937892;18029348;18343819;18660489;19036724;19209188;19956726;21906983;23364789;23954632;8889548;9628581 23082 E7EVG6;Q5VV67;X6R7H2 AB011167;ABBA01063171;AF325193;AK025691;AK095248;AK299885;AL500527;AMYH02023688;AMYH02023689;BC002561;BC063806;BC063829;BU742486;CA442653;CH471066;HY023373;NM_001288727;NM_001288728;NM_015062;XM_005269656;XM_005269658;XM_006717730;XM_006717731 AAH02561;AAH63806;AAH63829;AAK11573;BAA25521;BAG61732;EAW49719;EAW49720;EAW49721;NP_001275656;NP_001275657;NP_055877;Q5VV67;XP_005269713;XP_005269715;XP_006717793;XP_006717794 Hs.533551 1848720;2108387;2113094;2119846 D10S2456;PPRC1_9302;RH17772;SHGC-33914 KIAA0595;MGC74642;PRC;RP11-302K17.6 OTTHUMP00000020358;OTTHUMP00000020359;PGC-1 related co-activator;PGC-1-related coactivator;peroxisome proliferative activated receptor, gamma, coactivator-related 1;peroxisome proliferator-activated receptor gamma coactivator-related protein 1 APPROVED protein-coding ENSG00000148840 HGNC:30025 15173 REVIEWED 731722 PPT2 palmitoyl-protein thioesterase 2 This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011] 6 6 6 p21.3 33688341 33698499 + 32121229 32131458 + 32153452 32163681 + 731239;1580863;6480464 9341199 10051407;10417332;11076863;11230166;11256614;11717424;12477932;12855696;12975309;14574404;14656967;14759258;15489334;15489336;16344560;16381901;17207965;19143821;19851445;20010835;21963094;22268729;22939629;23362303;23535732;23824909 9374 A2ABN6;A2ABN7;B7Z424;G8JLL2;Q9UMR5 ABBA01038106;ABBA01038107;AF020543;AI472281;AL110128;AL662828;AL662884;AL845464;AMYH02013468;AMYH02013469;BC000955;BC001355;BX284686;BX927239;CH471081;CR533546;CR753803;CR812478;CR933878;DA153675;DA352776;DA918701;NM_001204103;NM_005155;NM_138717;U89336;Y17958 AAB47495;AAB80730;AAH01355;ACE86903;ACE87590;CAB46981;CAB53659;CAG38577;CAL37712;EAX03591;EAX03592;EAX03593;EAX03594;EAX03595;EAX03596;NP_001191032;NP_005146;NP_619731;Q9UMR5 Hs.332138 1672589;1697398;1745967;1790811;2106229;7184113 D3A;D6S2669;RH102199;RH124332;WI-11350 C6orf8;DKFZp564P1516;G14;PPT-2 OTTHUMP00000029376;OTTHUMP00000029377;OTTHUMP00000029378;OTTHUMP00000029380;OTTHUMP00000205020;S-thioesterase G14;VE-statin2;lysosomal thioesterase PPT2;palmitoyl-protein hydrolase 2 APPROVED protein-coding ENSG00000221988 HGNC:9326 04486 603298 REVIEWED 736552 PPT1 palmitoyl-protein thioesterase 1 The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008] 1 1 1 p32 38820669 38845442 - 40538382 40563142 - 40072710 40097470 - 734784;1580863;6480464;7240710;8554872;8699517 7637805 10416973;10658183;10737604;10740217;10992246;11020216;11136716;11440996;11506414;11588997;11722572;12025857;12125808;12477932;12483688;12754519;12855696;15489334;15929065;16303743;16344560;16518810;16542649;16571600;17207965;17261688;17314511;18704195;19054571;19165527;19201763;19302939;19793631;19946888;20301334;20301601;21139048;21704547;21890473;21906983;21963094;21988832;22268729;22520356;22939629;24083319;24583282;24816145;7916016;8325646;8633062;8786130;8816748;8895569;9425237;9571187;9664077 5538 E9PIA8;E9PK48;E9PMG2;E9PP28;E9PSE5;P50897;Q5T0S4 ABBA01023189;ABBA01023190;AF022211;AK075496;AK301682;AK302232;AK310799;AK312287;AL512599;AMYH02000842;AMYH02000843;BC008426;BX441569;CH471059;CR542053;DA504318;HH961862;L42809;NG_009192;NM_000310;NM_001142604;U44772;XM_005271007;XM_005271008 AAA85337;AAB06236;AAB72224;AAH08426;ADQ31900;BAG35214;BAG63155;BAG63586;CAG46850;CBX51404;EAX07237;EAX07238;NP_000301;NP_001136076;P50897;XP_005271064;XP_005271065 Hs.3873 2129011;2129988;2151518;2164740;2176157 A006O26;AL010071;D1S1857E;SHGC-74659;WI-12268 CLN1;INCL;PPT;PPT-1 OTTHUMP00000004836;OTTHUMP00000004837;OTTHUMP00000004838;OTTHUMP00000230752;OTTHUMP00000231000;ceroid-palmitoyl-palmitoyl-protein thioesterase 1;palmitoyl-protein hydrolase 1;palmitoyl-protein thioesterase APPROVED protein-coding ENSG00000131238 HGNC:9325 07203 256730;600722 REVIEWED 1347490 PPP6R2 protein phosphatase 6, regulatory subunit 2 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] 22 22 22 q13.33 34685889 34759532 + 50781746 50883519 + 50343317 50445090 + 1580863;6480464;8554872 10591208;12477932;14702039;14743216;16713569;16769727;18029348;18186651;19596235;19615732;19621075;20065038;21187329;21832049;23443559;24255178;9734811 9701 B3KMJ7;O75170;T1ECW5 AA743798;AB014585;ABBA01042631;ABBA01042632;ABBA01042633;ABBA01042634;ABBA01042635;AK002063;AK022669;AK024148;AK097210;AK302472;AL096767;AL671545;AL954743;AMYH02038607;AMYH02038608;AMYH02038609;AMYH02038610;AMYH02038611;BC000976;BC006568;BC022346;BC032664;BC041698;BC052995;BX545851;CH471138;DB452735;NM_001242898;NM_001242899;NM_001242900;NM_014678;XM_005261956;XM_005261957;XM_005261958;XM_005261959;XM_005261960;XM_006724428;XM_006724429;XM_006724430;XM_006724431;XM_006724432;XM_006724433;XM_006724434;XM_006724435 AAH00976;AAH06568;AAH32664;AAH41698;AAH52995;BAA31660;BAG51009;BAG51102;BAH13719;EAW73530;EAW73531;EAW73532;EAW73533;EAW73534;NP_001229827;NP_001229828;NP_001229829;NP_055493;O75170;XP_005262013;XP_005262014;XP_005262015;XP_005262016;XP_005262017;XP_006724491;XP_006724492;XP_006724493;XP_006724494;XP_006724495;XP_006724496;XP_006724497;XP_006724498 Hs.449098;Hs.733531;Hs.740776 1652072;1735242;1784508;2110891;2123801;5015619;5016700;5020740;5022200;5022450;5022651;5037552 D10S275;D11S2921;D11S3114;D22S316E;D3S2908E;D8S2279;L17809;L18426;RH79802;SGC30261;SHGC-145934;STS-N38970 KIAA0685;PP6R2;SAP190;SAPS2;dJ579N16.1 OTTHUMP00000196589;OTTHUMP00000196590;OTTHUMP00000196591;OTTHUMP00000196592;OTTHUMP00000196594;SAPS domain family, member 2;serine/threonine-protein phosphatase 6 regulatory subunit 2 APPROVED protein-coding ENSG00000100239 HGNC:19253 11102 610877 VALIDATED 1349834 PQBP2 polyglutamine binding protein 2 9875212 23687 HGNC:9331 1345271 PPY2 pancreatic polypeptide 2 INTERACTS WITH benzo[a]pyrene 17 17 17 q11 23436203 23437051 + 26574470 26575315 + 28247444 28248289 + 6480464 10756099;11825642 23614 Q9NRI7 ABBA01015062;AC061975;AF085945;AF222903;AMYH02033218;NR_002181 AAF73875;Q9NRI7 Hs.744962 1677532 RH80047 pseudo ENSG00000265060 HGNC:9328 09437 606638 PROVISIONAL 1353360 PQBP3 polyglutamine binding protein 3 9875212 23686 HGNC:9332 1601770 PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 ENCODES a protein that exhibits peptidyl-prolyl cis-trans isomerase activity (inferred); INVOLVED IN mRNA splicing, via spliceosome (inferred); protein folding (inferred); protein peptidyl-prolyl isomerization (inferred); FOUND IN catalytic step 2 spliceosome; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; methyl methanesulfonate 5 5 5 q12.3 61857596 61881833 + 64859063 64883376 + 65563236 65587549 + 6480464 11991638;12477932;14702039;15489334;18029348;18397323;21139048;21890473;24457600;24816145;7584044;8889548 23398 B4DP34;B4DT22;D6R9Q1;D6RA12;D6RB19;D6RD43;D6RDA4;D6RHV0;F5H7P7;H0Y8N5;Q96BP3 ABBA01048329;AC008560;AK025679;AK057718;AK093675;AK298175;AK300022;AK301654;AMYH02011428;BC015385;BM669378;BX642958;CH471137;D38552;DB454273;KC877011;NM_001278926;NM_001278927;NM_001278929;NM_015342;XM_005248474;XM_005248475;XM_006714582;XM_006714583 AAH15385;ACT64396;ACT64397;BAA07555;BAG60446;BAG61834;BAG63131;EAW51352;NP_001265855;NP_001265856;NP_001265858;NP_056157;Q96BP3;XP_005248531;XP_005248532;XP_006714645;XP_006714646 Hs.121432 1730217;2131447;2132760;2138354;2167531;2171651;5015961;5022322;5037552 1740;D11S2560;D15S1477;D5S437E;D8S2279;RH17439;RH68805;SHGC-33865;STS-F13799 FLJ33156;FLJ36356;KIAA0073 OTTHUMP00000161887;peptidylprolyl isomerase domain and WD repeat-containing protein 1;spliceosome-associated cyclophilin protein-coding ENSG00000113593 HGNC:28954 11063 VALIDATED 737129 PPY pancreatic polypeptide This gene belongs to the NPY family and it encodes a protein that is synthesized as a 95 aa polypeptide precursor in the pancreatic islets of Langerhans. It is cleaved into two peptide products; the active hormone of 36 aa and an icosapeptide of unknown function. The hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. [provided by RefSeq, Jul 2008] 17 17 17 q21 38726213 38727874 - 42018172 42019833 - 43940804 43942465 - 1580863;6480464 11825640;11825647;11825648;1194289;12187924;12477932;14988250;15489334;15561938;15966750;15998659;15998783;16359755;17171555;17235527;17325259;18577758;21813805;22399387;22673566;22979996;23371976;23956349;24375409;2997153;3753985;6094571;6138294;6366786;6373251;7014602;7493937;782992;8244379 5539 K7EKP2;K7EML0;P01298 ABBA01028393;AC007993;AMYH02033466;BC032225;BC040033;BI838025;CH471178;M11726;M15788;NM_002722;X00491 AAA60156;AAA60161;AAH32225;AAH40033;ABM84647;ABM92176;CAA25161;EAW51649;NP_002713;P01298 Hs.558368;Hs.744427 1677532;1741195;2135858;5119723 GDB:178570;GDB:180950;RH71368;RH80047 PNP;PP pancreatic polypeptide Y;pancreatic prohormone;prepro-PP (prepropancreatic polypeptide) 2289501;2289511 BW444_H;BW453_H APPROVED protein-coding ENSG00000108849 HGNC:9327 01340 167780 REVIEWED 1352148 PQBP4 polyglutamine binding protein 4 9875212 23685 HGNC:9333 1343655 PQBP5 polyglutamine binding protein 5 9875212 23684 HGNC:9334 6484025 PQLC1P2 PQ loop repeat containing 1 pseudogene 2 4 4 4 q21.22 80903919 80904689 + 83612889 83613659 + 82691736 82692506 + 100127906 ABBA01063439;AC073413;AMYH02009604;NG_011784 pseudo HGNC:43987 INFERRED 1315648 PQLC3 PQ loop repeat containing 3 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 p25.1 11211350 11234837 + 11295498 11319000 + 11155372 11178874 + 737633;6480464 12477932 14702039;15489334;15815621;17207965;8889549 130814 B5MC27;C9J4B6;G5E9P4;H7C493;Q8N755 AA076049;ABBA01015643;AC018463;AK001091;AK301439;AK313402;AL161956;AL548337;AMYH02003281;AMYH02003282;AMYH02003283;BC027625;BI601351;BQ277359;BQ574369;CH471053;CX751769;DB460796;DC392668;NM_001282710;NM_001282711;NM_001282712;NM_152391;NR_104231 AAH27625;AAX93048;ADQ32785;BAE46613;BAG36198;BAG62966;EAX00939;EAX00940;EAX00941;EAX00942;NP_001269639;NP_001269640;NP_001269641;NP_689604;Q8N755 Hs.274415 1663708;2171659 D2S2908;RH18382 C2orf22;MGC33602 OTTHUMP00000147595;OTTHUMP00000200416;OTTHUMP00000200635;PQ-loop repeat-containing protein 3;chromosome 2 open reading frame 22 protein-coding ENSG00000162976 HGNC:28503 12810 VALIDATED 1346711 PR@ proline-rich protein gene cluster 3922350 5541 HGNC:9335 1316164 PPP6R3 protein phosphatase 6, regulatory subunit 3 Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] 11 11 11 q13 65563446 65717507 + 68228186 68382802 + 68460718 68615334 + 6480464;8554872 10997877;11401438;12477932;14702039;15146197;15302935;15324660;15342556;15345747;15489334;16344560;16716191;16769727;16964243;17081983;17761849;18186651;19322201;19460752;19505873;19615732;19621075;20065038;21044950;21139048;21187329;21890473;21906983;21963094;21987572;22053931;22586326;22641346;22863883;22939629;22952844;22990118;23022380;23443559;23455922;23718855;23752268;23851495;24255178;24457600;24816145;9885572 55291 E9PJD8;E9PK08;E9PKF6;E9PKG4;E9PNN8;E9PQP7;H0YDK9;H0YDW1;H0YEN2;H0YEV0;H7BXH2;Q5H9R7 AB046778;ABBA01023993;ABBA01023994;ABBA01023995;ABBA01023996;AF264779;AF264780;AK001920;AK023950;AK057250;AK125055;AK298180;AK300359;AK302611;AK303315;AK315136;AL389982;AL834471;AMYH02025017;AMYH02025018;AMYH02025019;AP000807;AP001788;AP003096;BC007738;BC020953;BC070121;BC105933;BC105934;BC107599;BP314824;CH471076;CN351527;CR749815;CR933658;CR936718;DB207620;DQ111954;NM_001164160;NM_001164161;NM_001164162;NM_001164163;NM_001164164;NM_018312;XM_005274081;XM_006718608;XM_006718609;XM_006718610;XM_006718611;XM_006718612;XM_006718613;XM_006718614;XM_006718615;XM_006718616;XM_006718617;XM_006718618;XM_006718619;XM_006718620;XM_006718621;XM_006718622;XM_006718623;XM_006718624;XM_006718625;XM_006718626;XM_006718627;XM_006718628 AAG36934;AAG36935;AAH07738;AAH20953;AAI05934;AAI05935;AAI07600;AAZ99639;BAA91978;BAB13384;BAB14737;BAB71396;BAG60451;BAG62099;BAG63858;BAG64384;CAB97537;CAD39130;CAH18675;CAI45957;EAW74707;EAW74708;EAW74709;EAW74710;EAW74711;EAW74712;NP_001157632;NP_001157633;NP_001157634;NP_001157635;NP_001157636;NP_060782;Q5H9R7;XP_005274138;XP_006718671;XP_006718672;XP_006718673;XP_006718674;XP_006718675;XP_006718676;XP_006718677;XP_006718678;XP_006718679;XP_006718680;XP_006718681;XP_006718682;XP_006718683;XP_006718684;XP_006718685;XP_006718686;XP_006718687;XP_006718688;XP_006718689;XP_006718690;XP_006718691 Hs.503022 1647462;1649138;1651584;1674656;1682892;1709974;1752615;2144636;2148914;2150983;2158519;5095718 1282;A008K11;G30660;G59847;RH46314;RH46970;RH94210;SHGC-106488;SHGC-82255;STS-R16764;STS-R76484;WIAF-1529 C11orf23;DKFZp781E17107;DKFZp781E2374;DKFZp781O2362;FLJ11058;FLJ43065;KIAA1558;MGC125711;MGC125712;PP6R3;SAP190;SAPL;SAPS3 OTTHUMP00000236289;OTTHUMP00000236293;OTTHUMP00000236294;OTTHUMP00000236295;OTTHUMP00000236296;OTTHUMP00000236297;OTTHUMP00000236298;OTTHUMP00000236299;OTTHUMP00000236301;OTTHUMP00000236330;SAPLa;SAPS domain family, member 3;chromosome 11 open reading frame 23;protein phosphatase 6 regulatory subunit 3;serine/threonine-protein phosphatase 6 regulatory subunit 3;sporulation-induced transcript 4-associated protein SAPL APPROVED protein-coding ENSG00000110075 HGNC:1173 10703 610879 VALIDATED 1601838 PRAC1 prostate cancer susceptibility candidate 1 This gene is reported to be specifically expressed in prostate, rectum and distal colon. Sequence analysis suggests that it may play a regulatory role in the nucleus. [provided by RefSeq, Jul 2008] 17 17 17 q21 43253227 43254028 - 46799081 46799882 - 48721719 48722520 - 6480464 11340635;12477932;24100630 84366 Q96KF2 ABBA01041174;AC091179;AF331165;AMYH02033545;BC030950;BU535394;CH471109;NM_032391 AAH30950;AAK38837;EAW94717;NP_115767;Q96KF2 Hs.116467 C17orf92;MGC32520;PRAC OTTHUMP00000216941;prostate cancer susceptibility candidate protein 1;prostate, rectum and colon expressed gene protein;small nuclear protein PRAC;small nuclear protein PRAC1 APPROVED protein-coding ENSG00000159182 HGNC:30591 17897 609819 REVIEWED 1323183 PQLC2 PQ loop repeat containing 2 ENCODES a protein that exhibits arginine transmembrane transporter activity; L-lysine transmembrane transporter activity; basic amino acid transmembrane transporter activity (ortholog); INVOLVED IN amino acid homeostasis; arginine transport; lysine transport; FOUND IN integral component of organelle membrane; lysosomal membrane; INTERACTS WITH cadmium atom; calcitriol; copper(2+) sulfate 1 1 1 p36.13 17965741 17982808 + 19638740 19658925 + 19312246 19332431 + 737633;6480464 12477932 14702039;15489334;16344560;16710414;16751776;23169667;24250222 54896 A2A2E6;E9PJZ6;E9PL93;Q6ZP29 ABBA01059757;ABBA01059758;AK000327;AK125580;AK130171;AK130175;AK172745;AL035413;AMYH02000421;BC015324;CH471134;DA202894;DA560373;NM_001040125;NM_001040126;NM_001287531;NM_017765;NR_109848;XM_005245915;XM_005245916;XM_006710710;XM_006710711;XR_241193;XR_241194 AAH15324;ADZ15808;BAA91088;BAC85296;BAC85298;BAD18732;BAG54217;EAW94882;EAW94883;EAW94884;EAW94885;EAW94886;EAW94887;NP_001035214;NP_001035215;NP_001274460;NP_060235;Q6ZP29;XP_005245972;XP_005245973;XP_006710773;XP_006710774 Hs.647620 5037552 D8S2279 FLJ20320;FLJ23906;FLJ26661;FLJ26665;RP4-657E11.5 OTTHUMP00000002621;OTTHUMP00000002649;OTTHUMP00000184894;PQ-loop repeat-containing protein 2;lysosomal amino acid transporter 1 homolog protein-coding ENSG00000040487 HGNC:26001 17896 614760 VALIDATED 1601717 PQLC2L PQ loop repeat containing 2-like ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; potassium chromate 3 3 3 q25.32 155684834 155742697 + 157261133 157395531 + 157543344 157677742 + 6480464;8554872 11329013;12477932;22363504;8889549 152078 A1A4F0;C9J2K9;C9JRW5 AA131625;ABBA01058828;ABBA01058829;AC084212;AI377021;AMYH02007983;AW151487;BC010062;BC029129;BC126187;BC126189;BC144066;BE905784;BG209594;BG217991;BX113701;CH471052;KF457704;NM_001099777;NM_001130001;NM_001130002;NM_001243729;NR_024016;XM_005247142 A1A4F0;AAH29129;AAI26188;AAI26190;ADR82799;EAW78701;EAW78702;NP_001093247;NP_001123473;NP_001123474;NP_001230658;XP_005247199 Hs.259046 1852808 RH48081 C3orf55 OTTHUMP00000213373;OTTHUMP00000213374;OTTHUMP00000213375;OTTHUMP00000213376;putative uncharacterized protein C3orf55 APPROVED protein-coding ENSG00000174899 HGNC:25146 VALIDATED 2291822 PRAC2 prostate cancer susceptibility candidate 2 This gene is highly expressed in prostate, rectum, colon, and testis. This gene may produce a non-coding RNA or may encode a short protein that might localize to the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 17 17 17 q21.3 43254688 43256265 + 46800542 46802119 + 48723168 48724758 + 12746837 360205 D3DTV9 ABBA01041174;AC091179;AF532777;AI201489;AI762586;AMYH02033545;BX106051;CH471109;NG_033789;NM_001282275;NM_001282276;XM_006721865 EAW94715;EAW94716;NP_001269204;NP_001269205;XP_006721928 Hs.236557 C17orf93;HOXB-AS5;HOXB13-AS1;NCRNA00253 HOXB cluster antisense RNA 5;prostate, rectum and colon 2;prostate, rectum and colon expressed gene 2 protein;small nuclear protein PRAC2 APPROVED protein-coding ENSG00000229637 HGNC:30143 610787 VALIDATED 7174937 PRADC1P1 protease-associated domain containing 1 pseudogene 1 3 3 3 p22.2 36960549 36961093 + 37017787 37018331 + 36976296 36976840 + 645571 ABBA01024860;AC011816;AMYH02006551;NG_022245 pseudo HGNC:44534 INFERRED 1352558 PRADC1 protease-associated domain containing 1 FOUND IN extracellular region; extracellular vesicular exosome; INTERACTS WITH copper(2+) sulfate; cyclosporin A; valproic acid 2 2 2 p13.2 73305961 73311182 - 73455134 73460356 - 73228006 73233228 - 6480464 12477932;12975309;15231747;15489334;15498570;21139048;21890473;21963094 84279 Q9BSG0 ABBA01075579;AC010913;AK312077;AMYH02004072;AY358605;BC005069;CH471053;NM_032319 AAH05069;AAQ88968;AAX88901;ADZ15819;BAG35013;EAW99742;EAW99743;NP_115695;Q9BSG0 Hs.61268 1699350;2119523 RH103262;RH68102 C2orf7;MGC13004;PAP21;hPAP21 OTTHUMP00000160195;protease-associated domain-containing glycoprotein 21 kDa;protease-associated domain-containing protein 1;protease-associated domain-containing protein of 21 kDa APPROVED protein-coding ENSG00000135617 HGNC:16047 12815 PROVISIONAL 1350856 PRAF2 PRA1 domain family, member 2 INVOLVED IN L-glutamate transport (ortholog); FOUND IN endosome (inferred); integral component of membrane (inferred); INTERACTS WITH atrazine; copper atom; copper(0) X X X p11.23 52732829 52735673 + 48928818 48931662 - 49071156 49074045 - 1580863;6480464 12477932;14702039;15489334;15757671;16481131;16712791;17975142;18395978;20412121;21139048;21203533;23440329 11230 A6NP52;O60831 AA720948;ABBA01046110;AC231657;AF196779;AJ005896;AK023433;AK315374;AMYH02039318;BC021213;CB155577;CH471224;CR457023;NM_007213 AAH21213;BAG37767;BAG51191;CAA06753;CAG33304;EAW50706;EAW50707;NP_009144;O60831 Hs.29595 1698870 RH103001 FLJ57916;JM4 Jena-Muenchen 4;OTTHUMP00000032407;PRA1 domain family 2;PRA1 family protein 2 protein-coding ENSG00000243279 HGNC:28911 06596 300840 VALIDATED 1603300 PRAMEF1 PRAME family member 1 This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 2014] 1 1 1 p36.21 11964054 11968598 + 12851546 12856777 + 12791397 12796628 + 6480464;8554872 12477932;14702039;16159394;16710414;23000965 65121 B3KWQ4;O95521;Q8IW67 ABBA01003099;AC244670;AK125568;AL022101;AL023753;AL049686;BC040902;BC144199;CH471130;DA903707;NG_027549;NM_001294139;NM_023013 AAH40902;AAI44200;BAG54216;CAB41257;EAW71748;EAW71749;NP_001281068;NP_075389;O95521 Hs.454859;Hs.744789 5124794 RH92903 RP5-845O24.1;dJ1198H6.1 OTTHUMP00000001925 APPROVED protein-coding ENSG00000116721 HGNC:28840 11272 REVIEWED 1313123 PQLC1 PQ loop repeat containing 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; 3,3',4,4',5-pentachlorobiphenyl (ortholog) 18 18 18 q23 74434080 74482339 - 77662420 77711664 - 79902420 79951664 - 737633;6480464 12477932 14702039;15489334;16751776;21139048;21906983;21988832 80148 B3KW14;K7EMG2;K7EQ76;K7ERD3;K7ERV4;Q8N2U9;X6R488 ABBA01013899;ABBA01013900;ABBA01013901;ABBA01013902;AC114341;AK026031;AK123870;AK126188;AK301881;AK303818;AMYH02035069;AMYH02035070;BC030140;CH471117;CQ834734;DB475520;DQ587675;NM_001146343;NM_001146345;NM_025078;XM_005266769;XM_005266770;XM_006722549 AAH30140;BAB15329;BAG53976;BAH13575;BAH14059;CAH05582;EAW66635;EAW66636;EAW66637;NP_001139815;NP_001139817;NP_079354;Q8N2U9;XP_005266826;XP_005266827;XP_006722612 Hs.288284 2150258 SGC32005 FLJ22378 OTTHUMP00000163843;OTTHUMP00000206112;PQ-loop repeat-containing protein 1 protein-coding ENSG00000122490 HGNC:26188 11454 VALIDATED 1604582 PRAM1 PML-RARA regulated adaptor molecule 1 The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq, Jul 2008] 19 19 19 p13.2 8412603 8425203 - 8554940 8567538 - 8490056 8502654 - 6480464;8554872 11301322;11430826;12477932;14976551;15489334;15572693;15637062;16344560;16432238;16449642;16502581;16502582;16730330;16831444;18073335;18391951;19109227;19623654;20873783;21163940;21673516;21803845;8806687;9570750 84106 M0R149;Q96QH2 ABBA01010841;AC092298;AC136469;AJ272324;AK308227;AMYH02035444;BC028012;BI907455;CH471139;DA350460;NM_032152;XM_005272502 AAH28012;ABM81983;ABW03611;CAC17767;EAW68917;EAW68918;NP_115528;Q96QH2;XP_005272559 Hs.465812 MGC39864;PML-RAR;PRAM;PRAM-1 OTTHUMP00000237315;PML-RARA target gene encoding an Adaptor Molecule-1;PML-RARA-regulated adapter molecule 1 APPROVED protein-coding ENSG00000133246 HGNC:30091 05926 606466 REVIEWED 1603846 PRAMEF10 PRAME family member 10 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol; silicon dioxide; 3,4-methylenedioxymethamphetamine (ortholog) 1 1 1 p36.21 3 3244 - 12952727 12958094 - 12892896 12898263 - 6480464;8554872 12477932;15489334;16710414;23000965 343071 O60809 ABBA01170384;AC245034;AL022101;AL049682;BC112208;BC112210;NM_001039361 AAI12209;AAI12211;CAB41254;NP_001034450;O60809 Hs.684629 MGC138413;MGC138415;RP5-845O24.7 OTTHUMP00000001962 protein-coding ENSG00000187545 HGNC:27997 VALIDATED 1349908 PRAME preferentially expressed antigen in melanoma This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] 22 22 22 q11.22 6710275 6721853 - 22890123 22901696 - 22547701 22559289 - 1580863;6480464;6484676 19471584 10591208;10682862;10741395;11298586;11943337;12419593;12477932;12688312;14667819;15231747;15240516;15461802;15489334;16179254;16620968;16681423;16860864;16914202;17382387;17534929;17624586;17693191;18088454;18088461;18295331;18452107;18587578;18648365;18709641;18815192;18950857;18988867;19027161;19035174;19473719;19474511;19625708;20376794;20723287;20805128;20838376;21139048;21145461;21278353;21347312;21550659;21691740;21822215;21906983;21928126;21963094;22261449;22384167;22390931;22503131;22505724;22912744;23000965;23075240;23110703;23228130;23409080;23444226;23460923;23905893;24035498;24250222;24600975;8889548;9047241;9466265;9619397;9751617;9753074 23532 B5MCY4;B5MD04;B7Z986;E7EMH2;E7EW99;F8WF80;H7C2P3;P78395 ABBA01055086;ABBA01055087;AC246793;AF025440;AI613210;AK129783;AK302188;AK304593;AK312769;AK316395;BC014074;BC022008;BC039731;BM015464;BQ432004;BU151249;CF121110;CH471095;CR456549;DB024053;DC395455;NG_000002;NM_001291715;NM_001291716;NM_001291717;NM_001291719;NM_006115;NM_206953;NM_206954;NM_206955;NM_206956;U65011;XM_006725402 AAC39560;AAC51160;AAH14074;AAH22008;AAH39731;ABM84399;ABM87326;BAG35634;BAH13644;BAH14222;BAH14766;CAG30435;CAK54580;CAK54879;EAW59518;EAW59519;EAW59520;EAW59521;EAW59522;EAW59523;NP_001278644;NP_001278645;NP_001278646;NP_001278648;NP_006106;NP_996836;NP_996837;NP_996838;NP_996839;P78395;XP_006725465 Hs.30743 1650332;2109693;2135163 PRAME_9364;RH48178;RH70693 CT130;MAPE;OIP-4;OIP4 OTTHUMP00000199309;OTTHUMP00000199310;OTTHUMP00000199311;OTTHUMP00000199312;OTTHUMP00000199314;Opa-interacting protein OIP4;cancer/testis antigen 130;melanoma antigen preferentially expressed in tumors;opa-interacting protein 4;preferentially expressed antigen of melanoma APPROVED protein-coding ENSG00000185686 HGNC:9336 05820 606021 REVIEWED 1601784 PRAMEF11 PRAME family member 11 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 1 1 1 p36.21 11997439 12006250 - 12884468 12891264 - 12824610 12843808 - 6480464;8554872 12477932;16710414 440560 O60813 AC245034;AL022101;AL049680;BC144426;NM_001146344;XM_006710645 AAI44427;CAB41252;NP_001139816;O60813;XP_006710708 Hs.551617 RP5-845O24.2 OTTHUMP00000001927 protein-coding ENSG00000239810 HGNC:14086 VALIDATED 1604432 PRAMEF12 PRAME family member 12 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.21 11947529 11950594 + 12834984 12838049 + 12774848 12777906 + 6480464;8554872 16710414;21139048;23000965 390999 O95522 ABBA01003098;AC244670;AI339502;AI339503;AL023753;CH471130;NM_001080830 AAI52935;EAW71747;NP_001074299;O95522 Hs.156406 OTTHUMP00000001924 protein-coding ENSG00000116726 HGNC:22125 VALIDATED 1606052 PRAMEF14 PRAME family member 14 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); INTERACTS WITH cadmium atom; 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 1 1 1 p36.21 11964054 11969151 + 13668269 13673511 - 13341892 13347134 - 6480464 16710414;23000965 729528 A6NFR9;Q5SWL7 AA813530;ABBA01017204;ABBA01017205;AC243961;AL603890;BX092416;NM_001024661 NP_001019832;Q5SWL7 Hs.531192;Hs.745511 2133169;5112247 D1S2582;RH102749 PRAMEF13 OTTHUMP00000009641;PRAME family member 13 protein-coding HGNC:13576 VALIDATED 1604124 PRAMEF15 PRAME family member 15 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred) 1 1 1 p36.21 11997440 12004261 - 13641973 13648987 + 13315581 13322595 + 6480464 12477932;14702039 653619 Q5VWM5 AC243961;AK124292;AL603890;BC101343;BC137391;BC171794;BX470067;NM_001098376 AAI01344;AAI37392;AAI71794;NP_001091846;Q5VWM5 Hs.551617;Hs.631873 PRAMEF9 OTTHUMP00000009645;PRAME family member 9/15 protein-coding ENSG00000157358;ENSG00000204501 HGNC:26764 VALIDATED 1602375 PRAMEF19 PRAME family member 19 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.21 12177047 12180563 - 13694889 13698405 - 13368431 13371947 - 6480464 16159394;16710414;21347312 645414 Q5SWL8 ABBA01017206;AC243961;AL603890;NM_001099790 NP_001093260;Q5SWL8 PRAMEF18 OTTHUMP00000009644;PRAME family member 18 protein-coding ENSG00000204480 HGNC:24908 INFERRED 1602373 PRAMEF17 PRAME family member 17 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.21 12198245 12201221 + 13716088 13719064 + 13389632 13392629 + 6480464 12477932;16710414;23000965 391004 Q5VTA0 ABBA01017206;AC243961;AL603749;BC144662;BC146858;CH471167;NM_001099851 AAI44663;AAI46859;EAW51687;NP_001093321;Q5VTA0 Hs.684629 MGC178210;MGC181961 OTTHUMP00000009637 protein-coding ENSG00000204479 HGNC:29485 VALIDATED 1604644 PQBP1 polyglutamine binding protein 1 This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009] X X X p11.23 52903108 52908335 - 48755160 48760422 + 48897908 48903145 + 6480464;6907045;7240710;8699517 10198427;10332029;10593949;10873650;11054566;11163963;12062018;12477932;14634649;15024694;15146197;15355434;15489334;15635413;15782410;16055720;16104847;16169070;16493439;16713569;17033686;17332742;18029348;18599155;19119319;19366705;19377476;19847789;20211142;20307692;20410308;20886605;20950397;21139048;21204222;21267006;21315190;21832049;21933836;22365833;22889411;22901698;22939629;24816145;7211958;9545405;9599645;9875212 10084 C9JQA1;H7C053;O60828 AB016533;AB041832;AB041833;AB041834;AB041835;AB041836;ABBA01046078;ABBA01046079;AC233300;AF207550;AJ005893;AJ242829;AJ973593;AJ973594;AJ973595;AJ973596;AJ973597;AJ973598;AJ973599;AJ973600;AJ973601;AJ973602;AJ973603;AJ973604;AJ973605;AJ973606;AJ973607;AMYH02039311;BC012358;BE385548;BE396796;BI818141;BX362311;BX369697;CD051018;CD365745;CH471224;CN292761;CN292769;CS691419;NG_015967;NG_015968;NM_001032381;NM_001032382;NM_001032383;NM_001032384;NM_001167989;NM_001167990;NM_001167992;NM_005710;NM_144495;XM_005272571;XM_005272572 AAH12358;ABM83147;ABM85809;BAA76400;BAB16702;BAB16703;BAB16704;BAB16705;BAB16706;BAB16707;BAB16708;BAB16709;CAA06750;CAB44309;CAJ00537;CAJ00538;CAJ00539;CAJ00540;CAJ00541;CAJ00542;CAJ00543;CAJ00544;CAJ00545;CAJ00546;CAJ00547;CAJ00548;CAJ00549;CAJ00550;CAJ00551;CAP12212;EAW50735;EAW50736;EAW50737;EAW50738;NP_001027553;NP_001027554;NP_001027555;NP_001027556;NP_001161461;NP_001161462;NP_001161464;NP_005701;NP_652766;O60828;XP_005272628;XP_005272629 Hs.534384 1339184;1776797;2219556;5016429;5021594;5109989;5110035;5110962;7183753;7186041 D11S2591;D11S2593;D11S2618;D11S2846;D11S2920;DXS1039;DXS1068;PQBP1__5573;STS-R01143 MRX2;MRX55;MRXS3;MRXS8;NPW38;PQBP-1;RENS1;SHS 38 kDa nuclear protein containing a WW domain;OTTHUMP00000025808;OTTHUMP00000025809;OTTHUMP00000025812;mental retardation, X-linked 2 (non-dysmorphic);nuclear protein containing WW domain 38 kD;polyglutamine tract-binding protein 1;polyglutamine-binding protein 1 APPROVED protein-coding ENSG00000102103 HGNC:9330 02354 300463;309500 REVIEWED 1606783 PRAMEF2 PRAME family member 2 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 1 1 1 p36.21 11964070 11968650 + 12916941 12921764 + 12857086 12861909 + 6480464;8554872 12477932;15252450;15489334;16710414;21139048;23000965 65122 O60811 ABBA01003099;AC245034;AL022101;AL049674;BC075008;BC075009;CH471130;DQ786308;NM_023014 AAH75008;AAH75009;CAB41247;EAW71753;NP_075390;O60811 Hs.104991 5124794 RH92903 DJ845O24.3;FLJ43580;RP5-845O24.1 OTTHUMP00000001965 protein-coding ENSG00000120952 HGNC:28841 11273 PROVISIONAL 1626252 PRAMEF20 PRAME family member 20 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.21 12219063 12229938 + 13736907 13747803 + 13410450 13421328 + 6480464 16159394;16710414 645425 AC243961;AL365443;AL603749;NM_001099852;NM_001100114 NP_001093322;NP_001093584;Q5VT98 Hs.700560 PRAMEF21 OTTHUMP00000009638;OTTHUMT00000008157;PRAME family member 20/21;PRAME family member 21 protein-coding ENSG00000204478;ENSG00000204486 HGNC:25224 INFERRED 2298737 PRAMEF22 PRAME family member 22 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred) 1 1 p36.21 12177683 12180522 - 13035543 13038381 + 6480464 16159394;16710414 653606 A3QJZ6 AMYH02000312;CR589905;CR854858;NM_001100631;XM_006726328 A3QJZ6;NP_001094101;XP_006726391 Hs.712522 PRAMEF3L OTTHUMP00000083450;PRAME family member 3-like protein-coding HGNC:34393 INFERRED 1604150 PRAMEF21 PRAME family member 21 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred) 1 1 p36.21 12224958 12229938 + 13521963 13526943 + 6480464 16159394 391001 Q5VT98 ABBA01017207;ABBA01017208;AL365443;NM_001100114 NP_001093584;Q5VT98 Hs.700560 PRAMEF20 OTTHUMP00000002951;OTTHUMT00000008157;PRAME family member 20/21 protein-coding ENSG00000204486 HGNC:22405 VALIDATED 2300353 PRAMEF23 PRAME family member 23 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred) 1 p36.21 13108838 13112680 - 16710414;21139048 729368 A6NMV5 BX640550;NM_001282323;XM_001130065 A6NMV5;NP_001269252;XP_001130065 5014053 D1S3693 PRAMEF5L protein-coding ENSG00000232423 HGNC:34394 PROVISIONAL 1602776 PRAMEF16 PRAME family member 16 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred) 1 1 p36.21 12198245 12201249 + 13495254 13498260 + 6480464 12477932;23000965 654348 Q5VWM1 AL365443;NM_001045480 NP_001038945;Q5VWM1 Hs.684629 OTTHUMP00000002960 protein-coding HGNC:25767 VALIDATED 7371902 PRAMEF26 PRAME family member 26 INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 1 1 p36.21 13216688 13219898 - 13149237 13153095 - 6480464 645359 H0Y7S4 AC245056;CR589903;CR854858;XM_005276124;XM_006711083;XM_006724956 H0Y7S4;XP_005276181;XP_006711146;XP_006725019 protein-coding HGNC:49178 MODEL 1606369 PRAMEF3 PRAME family member 3 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); INTERACTS WITH benzo[a]pyrene (ortholog) 1 p36.21 13328196 13331692 - 6480464 16710414 401940 Q5TYW8 BX649449;NM_001013692 AAI48461;AAI53057;NP_001013714;Q5TYW8 Hs.558935 OTTHUMP00000011037 protein-coding ENSG00000204503 HGNC:14087 18435 VALIDATED 1603804 PRAMEF6 PRAME family member 6 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 1 1 p36.21 12998302 13007406 - 12938472 12947580 - 6480464 12477932;16710414 440561 Q5VXH4 AC245034;AL358783;BC101342;NM_001010889 AAI01343;NP_001010889;Q5VXH4 Hs.567864 5014053 D1S3693 OTTHUMP00000001964 protein-coding ENSG00000232423 HGNC:30583 17358 VALIDATED 1603849 PRAMEF5 PRAME family member 5 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); INTERACTS WITH 17beta-estradiol; cadmium atom 1 1 1 p36.21 2 4234 - 13359819 13369057 + 13254198 13263435 + 6480464 12477932;16710414;21139048 343068 Q5TYX0 ABBA01003099;AC244216;BC101344;BC130274;BC130276;BX640550;BX649449;NM_001013407 A6NMV5;AAI01345;AAI30275;AAI30277;ADR83031;NP_001013425;Q5TYX0 Hs.567864 5014053 D1S3693 PRAMEF23;PRAMEF5L OTTHUMP00000011089;PRAME family member 23 protein-coding ENSG00000270601 HGNC:27995 VALIDATED 7370484 PRAMEF25 PRAME family member 25 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred) 1 1 p36.21 13140447 13145000 + 13073694 13077552 + 6480464 16710414 441873 A6NGN4 ABBA01179502;AC245056;BX640550;CR854858;XM_005276123;XM_006710252;XM_006711082;XM_006724955 A6NGN4;XP_005276180;XP_006710315;XP_006711145;XP_006725018 Putative PRAME family member 25 protein-coding ENSG00000229571 HGNC:49179 MODEL 1603801 PRAMEF7 PRAME family member 7 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.21 562 3282 + 12976467 12980300 + 12916647 12920480 + 6480464;8554872 12477932;16710414 441871 Q5VXH5 ABBA01203065;AC245034;AL358783;NM_001012277 NP_001012277;Q5VXH5 MGC178110 OTTHUMP00000001963 protein-coding ENSG00000204510 HGNC:28415 17409 INFERRED 1603847 PRAMEF9 PRAME family member 9 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.21 1 4234 - 13421176 13428191 + 13172455 13179464 + 6480464 12477932;14702039;15489334;16710414 343070 AC245056;AK124292;AL365443;BC101343;BC137391;BC171794;CR854858;NM_001010890 AAI01344;AAI37392;AAI71794;NP_001010890;Q5VWM5 Hs.631873 PRAMEF15 OTTHUMP00000009724;PRAME family member 9/15 protein-coding ENSG00000204505 HGNC:27996 18596 INFERRED 2293902 PRAMEL preferentially expressed antigen in melanoma-like 22 22 q11.22 6163013 6215773 - 22345497 22398256 - 649179 AK131325;XM_001717401;XM_001719151;XM_002343768 BAD18485;Q6ZN90;XP_001717453;XP_001719203;XP_002343809 Hs.553939 1659419;1729191 RH48655;UniSTS:146579 FLJ16327 protein-coding HGNC:34302 1604149 PRAMEF8 PRAME family member 8 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.21 528 3618 + 13386646 13390765 - 13281304 13285137 - 6480464 12477932;16710414;21139048;25011449 391002 A6NMC2;B7ZMI5;Q5VWM4 AC244216;AL365443;BC140755;BC144565;BX470067;NM_001012276 A6NMC2;AAI40756;AAI44566;NP_001012276;Q5VWM4 Hs.553832 PRAMEF24 OTTHUMP00000009725;putative PRAME family member 24 protein-coding ENSG00000182330 HGNC:24074 17382 VALIDATED 1354045 PRAP1 proline-rich acidic protein 1 FOUND IN extracellular region (inferred); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 10 10 10 q26.3 128351341 128356680 - 135148362 135166187 + 133347340 133352683 + 6480464 12477932;12975309;14583459;17207965;18624398;20674898;23235459;24374861;9065197 118471 A6XND8;Q96NZ9 ABBA01006213;AF123768;AF421885;AL360181;AMYH02024092;AY158074;AY358908;BC029447;BC061643;BC071872;BC093853;BC101743;BC143590;BC143591;BC143592;CH471211;DQ884405;NM_001145201;NM_145202 AAH29447;AAH61643;AAH71872;AAH93853;AAI01744;AAI43591;AAI43592;AAI43593;AAL16670;AAN87018;AAP97247;AAQ89267;ABI63372;ADQ32013;EAW61336;NP_001138673;NP_660203;Q96NZ9 Hs.15951 MGC126792;PRO1195;RP11-122K13.6;UPA OTTHUMP00000020800;epididymis tissue protein Li 178 protein-coding ENSG00000165828 HGNC:23304 17898 609776 VALIDATED 1348170 PRB1 proline-rich protein BstNI subfamily 1 This gene encodes a precursor for proline-rich salivary proteins. This and five other genes that encode salivary proline-rich proteins (PRPs)form a PRP gene cluster in the chromosomal 12p13 region. Precursor salivary PRPs are cleaved multiple times to produce a diversity of secreted peptides. Alleles of this gene exhibit tandem repeat length variation in the coding region as well as polymorphic cleavage sites and polymorphic stop codons. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 12 12 12 p13.2 16647011 16650779 - 11504757 11508524 - 11351823 11355590 - 1580863;6480464 11329013;11422372;12477932;12549820;1618808;2851479;2993301;3055850;3521730;6089212;6671974;6810092;6924859;7118863;8317492;8422499;877561;9487127;9796777 5542 G3V1M9;G3V1R1;P04280 ABBA01067818;ABBA01067819;AC010176;AC238694;AMYH02026030;BC044827;BC141917;BG216715;BX485626;BX487087;CH471094;K02575;K02576;K03204;K03205;K03206;M97220;NM_005039;NM_199353;NM_199354;S52986;S62928;S62929;S62941;X07516;X07517 AAA13341;AAA36502;AAA36503;AAA60185;AAA60186;AAA60187;AAB05816;AAB27288;AAB27289;AAH44827;AAI41918;CAA30394;CAA30395;EAW96233;EAW96234;NP_005030;NP_955385;NP_955386;P04280 Hs.631726 1659132;1661594;1683267;2150782;2187150 D12S1808;G41283;RH39754;RH66398;RH71399 PM;PMF;PMS;PRB1L;PRB1M BstNI type basic salivary proline-rich protein 1;OTTHUMP00000240115;OTTHUMP00000240116;PRB1 large length copy;basic proline-rich protein;basic salivary proline-rich protein 1;parotid middle band protein;salivary proline-rich protein 1;salivary protein Pe APPROVED protein-coding ENSG00000251655 HGNC:9337 01623 180989 REVIEWED 1345078 PRB3 proline-rich protein BstNI subfamily 3 The protein encoded by this gene is a proline-rich salivary protein. It is a major constituent of parotid saliva. This protein is proposed to act as a bacterial receptor. This gene and five other genes that also encode salivary proline-rich proteins (PRPs), as well as a gene encoding a lacrimal gland PRP, form a PRP gene cluster in the chromosomal 12p13 region. [provided by RefSeq, Jul 2008] 12 12 12 p13.2 16561234 16564894 - 11418847 11422656 - 11265924 11269707 - 1580863;6480464;8554872 10737800;12477932;1894623;2171329;24135847;2851479;2993301;3055850;4062880;7566098;8406834 5544 F5H7C1;Q04118 AA376677;AA376715;ABBA01067815;AC010176;AC244131;BC096209;BC096210;BC096211;BC096212;BF155634;BX484729;BX485708;BX485709;CH471094;NG_013305;NM_006249;X07637;X07881 AAH96209;AAH96210;AAH96211;AAH96212;CAA30477;CAA30728;EAW96230;NP_006240;Q04118 Hs.73031 1742887;2121253;2122066 GDB:214813;RH77972;STS-X07881 G1;MGC116862;MGC116863;MGC116864;PRG BstNI type basic salivary proline-rich protein 3;G1 parotid salivary glycoprotein;OTTHUMP00000240024;basic salivary proline-rich protein 3;parotid salivary glycoprotein G1;proline-rich protein G1 APPROVED protein-coding ENSG00000197870 HGNC:9339 01352 168840 REVIEWED 1606074 PRAMEF4 PRAME family member 4 ENCODES a protein that exhibits retinoic acid receptor binding (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); negative regulation of cell differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.21 11997439 12004238 - 12939033 12946025 - 12879212 12886201 - 6480464;8554872 16710414;20467438 400735 O60810 AC245034;AL022101;AL049681;NM_001009611 CAB41253;NP_001009611;O60810 Hs.551617 5014053 D1S3693 RP5-845O24.6 OTTHUMP00000001966 protein-coding ENSG00000243073 HGNC:31971 17992 VALIDATED 7245141 PRC1-AS1 PRC1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 15 15 91509599 91531854 + 90966369 90988624 + 8554872 16344560;20581827 100507118 AA403001;ABBA01053074;AC068831;AMYH02031057;BI829394;CD244496;DB034560;DB039836;DB522174;DB527917;HG507420;NR_051984 Hs.366401;Hs.741626 1655860 G28408 AC068831.8 ncrna ENSG00000258725 HGNC:48587 VALIDATED 1353961 PRCA1 prostate cancer 1 ASSOCIATED WITH PROSTATE CANCER, HEREDITARY, 1 (inferred) 7240710 1565627 337932 HGNC:9342 601518 1323372 PRC1 protein regulator of cytokinesis 1 This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 15 15 15 q26.1 67918486 67947023 - 91509268 91537881 - 90966038 90994651 - 1580863;6480464;8554872 12082078;12477932;12889596;14744859;15297875;15489334;15531928;15616196;15625105;16189514;16344560;16565220;16603632;16964243;17233835;17351640;17409436;18029348;18570919;18587273;19447967;19468300;19471022;19531213;19561070;19609347;19664331;20056645;20360068;20379614;20467438;20581827;20691902;20889853;20962590;21139048;21693658;21906983;21963094;22278743;22323288;22419124;22621898;22623531;22939629;23349393;23870126;24250222;24725408;24816145;9885575 9055 G3V3N7;H0YL53;H0YLA0;H0YM42;H0YNE4;H3BSJ8;O43663 ABBA01053074;ABBA01053075;AC068831;AF044588;AK297117;AK304094;AK312600;AMYH02031057;AMYH02031058;BC003138;BC005140;BG773441;BG823292;BU634391;BX457401;BX647317;CH471101;CS537414;CS537416;CS537418;DA655494;DW423775;NM_001267580;NM_003981;NM_199413;XM_005254986;XM_005254987;XM_006720759;XM_006720760 AAC02688;AAH03138;AAH05140;ABM83859;ABM87181;BAG59623;BAG65000;CAM84944;CAM84945;CAM84946;EAX02134;EAX02135;EAX02136;EAX02137;EAX02138;NP_001254509;NP_003972;NP_955445;O43663;XP_005255043;XP_005255044;XP_006720822;XP_006720823 Hs.366401 1655860 G28408 ASE1;MGC1671;MGC3669 OTTHUMP00000246702;OTTHUMP00000246704;OTTHUMP00000246706;anaphase spindle elongation 1 homolog;protein regulating cytokinesis 1 APPROVED protein-coding ENSG00000198901 HGNC:9341 17899 603484 REVIEWED 1319153 PRCC papillary renal cell carcinoma (translocation-associated) This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010] 1 1 1 q21.1 129808519 129841855 + 156737274 156770609 + 156767482 156800817 + 6480464;7240710;8699517 10644981;11313942;11435707;11717438;12477932;14702039;14718574;15489334;17081983;17332742;18029348;18976975;19422821;20029029;22113938;22365833;22939629;24816145;7507566;7853572;8431910;8872474;8986805 5546 H0Y679;H0YE12;Q92733;Q96FT4 AA846273;ABBA01016643;ABBA01016644;AK126403;AK289872;AL590666;AMYH02001980;AMYH02001981;AMYH02001982;BC004913;BC010450;BG746454;BM423590;BU942864;CH471121;NG_008138;NM_005973;S69270;X97124;X99720;XM_005245313;XM_005245314 AAH04913;AAH10450;BAF82561;CAA65791;CAA68060;EAW52908;EAW52909;NP_005964;Q92733;XP_005245370;XP_005245371 Hs.516948 1672158;1692010;1754117;2108389;2185270 AL009821;AL033656;D1S3554;PRCC_8562;SHGC-132150 MGC17178;MGC4723;RCCP1;TPRC OTTHUMP00000038719;papillary renal cell carcinoma translocation-associated gene protein;proline-rich protein PRCC APPROVED protein-coding ENSG00000143294 HGNC:9343 01562 179755;605074 REVIEWED 1344983 PRB2 proline-rich protein BstNI subfamily 2 FOUND IN extracellular region (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,2',5,5'-tetrachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 p13.2 16686728 16690752 - 11544474 11548498 - 11391540 11395564 - 6480464 12477932;15077161;15923424;1849422;22142827;2307469;24024966;2851479;2993301;3178140;6089212;6344862;6874669;6924859;7118863;8422499;8554050 653247 H3BR58;P02812 ABBA01067819;ABBA01067820;AC078950;AC126171;BX484538;CH471094;K02577;K02578;K03208;M97221;NM_006248;S80905 AAA36504;AAA36505;AAA60189;AAB50686;EAW96235;NP_006239;P02812 Hs.654486 1659132;1661594;1683267;2150782;2187150 D12S1808;G41283;RH39754;RH66398;RH71399 IB-9;PRPPRB1;Ps;cP7 Basic proline-rich peptide P-E;OTTHUMP00000211205;basic salivary proline-rich protein 2;con1 glycoprotein;proline-rich protein BstNI, subfamily-2 (parotid size variant);salivary proline-rich protein 2 protein-coding ENSG00000121335 HGNC:9338 18511 168810 VALIDATED 1603415 PRCD progressive rod-cone degeneration This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] 17 17 17 q25.1 71116007 71133795 + 74523668 74541458 + 76527586 76545376 + 7240710;8554872;8699517 12477932;14702039;16938425;20301590;20507925;23805042 768206 Q00LT1 ABBA01028738;ABBA01028739;AC015802;AK054729;AK125617;AL567583;AMYH02034014;AMYH02034015;BC043413;BC146898;BC146904;DQ390338;NG_016702;NM_001077620;NR_033357 AAI46899;AAI46905;ABD17429;NP_001071088;Q00LT1 Hs.634380;Hs.743588 1335368;1688289;1709176 D15S1009;RH94299;SHGC-85751 RP36 progressive rod-cone degeneration protein APPROVED protein-coding HGNC:32528 610598;610599 REVIEWED 1348235 PRD primary retinal dysplasia ASSOCIATED WITH RETINAL DYSPLASIA, PRIMARY (inferred) 7240710 8401512 5548 HGNC:9345 312550 1317272 PRCP prolylcarboxypeptidase (angiotensinase C) The protein encoded by this gene is a lysosomal prolylcarboxypeptidase, which cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 11 11 11 q14 79845280 79921309 - 82535409 82612733 - 82824367 82901691 - 1580863;6480464;7401224;8554872 18396440 11830581;12123826;12477932;12768436;14702039;14996700;15489334;16681991;18656443;19056867;19913121;20079160;20516604;20517885;20540760;20628086;21087932;21890473;21906983;21963094;21988832;22079761;22268729;22679278;22863883;23744584;28321;4297812;7626287;8344943;9325062 5547 B7Z7Q6;E9PIG4;E9PKN6;E9PL49;E9PL85;E9PLY4;E9PNF7;E9PNJ1;E9PQB5;E9PQN3;E9PR42;P42785 AB451270;AB451397;ABBA01017369;AK090847;AK091786;AK302386;AK312919;AMYH02025190;AP001646;BC001500;BI827978;BX537480;CH471076;DB461615;L13977;NM_005040;NM_199418;XM_005274093 AAA99891;AAH01500;ABM83994;ABM87320;BAG35764;BAG52238;BAG52417;BAG70084;BAG70211;BAH13692;EAW75074;EAW75075;EAW75076;NP_005031;NP_955450;P42785;XP_005274150 Hs.523936 1341262;1688873;1725829;1754005;1774898;1796570;1855358;2120476;2157741;2181662;5022578;5123650;7185517 D11S1365;D11S2617;D11S4568;D11S4598;D1S1423;G62002;PRCP_1071;RH92893;SGC34782;SHGC-132051;SHGC-36305;STS-L13977 HUMPCP;MGC2202;PCP OTTHUMP00000234371;OTTHUMP00000234372;angiotensinase C;lysosomal Pro-X carboxypeptidase;lysosomal carboxypeptidase C;proline carboxypeptidase;prolylcarboxypeptidase isoform 1 preproprotein APPROVED protein-coding ENSG00000137509 HGNC:9344 08352 176785 REVIEWED 1352111 PRB4 proline-rich protein BstNI subfamily 4 The protein encoded by this gene is a proline-rich salivary protein. This gene and five other genes that also encode salivary proline-rich proteins (PRPs), as well as a gene encoding a lacrimal gland PRP, form a PRP gene cluster in the chromosomal 12p13 region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 12 12 12 p13.2 16602271 16605622 - 11460015 11463369 - 11307081 11310435 - 1580863;6480464 11422372;12477932;17294201;2851479;2993301;3055850;3220251;6377992;6810092;6841349;8373986;8422499;8554050;9487127 5545 A2VCL9;E7EXA8;E9PAL0;P10163 ABBA01067818;AC010176;AC244131;BC035362;BC128191;BC130386;CH471094;K03207;NM_001261399;NM_002723;S80916;X07704;X07715;X07882 AAA60188;AAB50687;AAI28192;AAI30387;CAA30542;CAA30543;CAA30729;EAW96231;NP_001248328;NP_002714;P10163 Hs.528651 1649606 RH71347 Po BstNI type basic salivary proline-rich protein 4;OTTHUMP00000240113;basic salivary proline-rich protein 4;parotid 'o' protein;parotid o protein;saliary protein Po;salivary proline-rich protein II-1;salivary proline-rich protein Po APPROVED protein-coding ENSG00000230657 HGNC:9340 01624 180990 REVIEWED 1323391 PRDM1 PR domain containing 1, with ZNF domain This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008] 6 6 6 q21 107155767 107179390 + 106534195 106557814 + 106086320 106109939 + 1580863;6480464;8554872 10713181;11067898;11342629;11877292;12150891;12165517;12453881;12477932;12626569;14985713;16002735;16424392;16492805;16547239;16585013;16713569;16765445;16849320;17043021;17213024;17264218;17379744;17682124;17877160;18071884;18089822;18192112;18235046;18256039;18354204;18370921;18400362;1851123;18552212;18583325;18596541;18604866;18845144;18992153;19047678;19124609;19194464;19234190;19269192;19322201;19433448;19460752;19530237;19563034;19717648;19735688;19760754;19788443;19828629;19828640;19838193;19838195;19898481;19915048;20047096;20379614;20530581;20800019;20859709;20944005;20966935;21102463;21103670;21216962;21411757;21622776;21690554;21722313;21722636;21785431;22020966;22040493;22143801;22167754;22278826;22438909;22555612;22580854;22585398;22593617;22634616;22733990;22939624;23028907;23129528;23273568;23348703;23624108;23648065;23911415;24004669;24009228;24438193;24637363;8033216;8168136;8921366;9887105 639 B2REA4;B2REA5;B4DW27;O75626 ABBA01026203;AF084199;AK129768;AK289556;AK301341;AL022067;AL358952;AL832963;AMYH02014238;AY198414;AY198415;BC103832;BC103833;BC103834;BC103835;CH471051;EF151143;NG_029115;NM_001198;NM_182907;XM_005267094;XM_006715550 AAC33300;AAI03833;AAI03834;AAI03835;AAI03836;AAO45623;AAO45624;ABL96617;ACE86710;ACE87395;BAF82245;BAG62889;CAH56276;EAW48419;EAW48420;EAW48421;EAW48422;NP_001189;NP_878911;O75626;XP_005267151;XP_006715613 Hs.436023 1796572;1855460;2119764 D6S1217E;D6S1410;PRDM1_1073 BLIMP1;MGC118922;MGC118923;MGC118924;MGC118925;PRDI-BF1 B-lymphocyte-induced maturation protein 1;BLIMP-1;OTTHUMP00000016918;OTTHUMP00000016919;OTTHUMP00000202173;PR domain zinc finger protein 1;PR domain-containing protein 1;PR-domain zinc finger protein 1;PRDI-binding factor 1;PRDI-binding factor-1;beta-interferon gene positive regulatory domain I-binding factor;beta-interferon gene positive-regulatory domain I binding factor;positive regulatory domain I-binding factor 1 APPROVED protein-coding ENSG00000057657 HGNC:9346 04572 603423 REVIEWED 1351660 PRDM12 PR domain containing 12 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); methyltransferase activity (inferred); INVOLVED IN methylation (inferred); neurogenesis (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; arsenite(3-); benzene-1,2,4-triol 9 9 9 q33-q34 104078514 104096917 + 133539981 133558384 + 130664594 130682997 + 1580863;6480464 10668202;11274145;14523459;14675547;24315451 59335 Q9H4Q4 ABBA01012055;ABBA01012056;ABBA01012057;ABBA01012058;AL359092;AMYH02021767;AMYH02021768;AMYH02021769;AY004252;CH471090;NM_021619 AAG13447;AAI72255;EAW87940;NP_067632;Q9H4Q4 Hs.495311 PFM9 OTTHUMP00000022367;PR domain zinc finger protein 12;PR domain-containing protein 12;PR-domain containing protein 12;PR-domain zinc finger protein 12 protein-coding ENSG00000130711 HGNC:13997 17900 VALIDATED 1322406 PRDM13 PR domain containing 13 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); metal ion binding (inferred); INVOLVED IN methylation (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); neurogenesis (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); paracetamol; valproic acid 6 6 6 q16.2 100698764 100707568 + 100054650 100063454 + 99606774 99615578 + 1580863;6480464 11181995;12800201;14574404;19336002;21102462 59336 Q7Z5E7;Q9H4Q3 ABBA01014479;AL035087;AL137784;AMYH02014185;AY004253;AY130010;CH471051;NM_021620 AAG13448;AAI56414;AAI72472;AAN05093;EAW48461;EAW48462;NP_067633;Q9H4Q3 Hs.287386 2217830 PRDM13_3668 MU-MB-20.220;PFM10 OTTHUMP00000016899;OTTHUMP00000016900;PR domain zinc finger protein 13;PR domain-containing protein 13;PR-domain containing protein 13;PR-domain zinc finger protein 13 protein-coding HGNC:13998 17901 VALIDATED 1348926 PRDM10 PR domain containing 10 The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 11 11 11 q25 126937763 127040883 - 129769601 129872730 - 129899706 130002838 - 1580863;6480464;8554872 10574462;12175877;12477932;18854154;18976975;19773279;20095854;20805357;21145461 56980 E9PIB4;E9PLV1;E9PRS0;E9PS52;Q9NQV6 AB033057;ABBA01023022;ABBA01023023;ABBA01023024;AF275817;AF503171;AK000234;AK310354;AL833172;AMYH02025780;AMYH02025781;AP003041;AP003326;AP003327;BC112934;BC117415;BC143612;BC143613;BX648944;CH471065;NM_020228;NM_199437;NM_199438;NM_199439;XM_006718886 AAF87243;AAI12935;AAI17416;AAI43613;AAI43614;AAP30847;BAA86545;BAA91026;EAW67761;NP_064613;NP_955469;NP_955470;NP_955471;Q9NQV6;XP_006718949 Hs.275086 1672001;1782244;2116549;2116551;2142326;2163471;2187140;5022132;5024262;5119761 A005L34;D11S1199;D11S2281E;D11S3991;D11S4274;D11S4283;G20316;GDB:181268;RH70351;SHGC-108125 KIAA1231;MGC131802;PFM7 OTTHUMP00000230911;OTTHUMP00000230912;OTTHUMP00000230913;OTTHUMP00000230914;OTTHUMP00000230915;OTTHUMP00000230916;OTTHUMP00000230917;PR domain zinc finger protein 10;PR domain-containing protein 10;PR-domain family member 7;PRDM zinc finger transcription factor;tristanin APPROVED protein-coding ENSG00000170325 HGNC:13995 11455 REVIEWED 1343614 PRDM11 PR domain containing 11 ENCODES a protein that exhibits chromatin binding (inferred); methyltransferase activity (inferred); INVOLVED IN methylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid 11 11 11 p11 45262624 45394602 + 45115564 45256675 + 45094013 45235124 + 6480464;8554872 10668202;14675547;14702039;23408906 56981 E9PJ09;H3BSZ2;Q9NQV5 AA468074;ABBA01060762;ABBA01060763;ABBA01060764;ABBA01060765;AC103681;AC103682;AF275818;AK024304;AK094792;AK097878;AMYH02024692;AW665411;CH471064;DR731303;NM_001256695;NM_001256696;NR_046338 AAF87244;AAI48348;BAC04425;BAC05192;EAW68048;EAW68049;NP_001243624;NP_001243625;Q9NQV5 Hs.178715 1708982;1738015;1754809;1769200;1774561;1847320;1850121;1851511;1851827;2144792;2146295;2156459;2161817;2166688;2169662;2169664;2184032;2189765;2217828 A006C44;D11S2322E;D11S3626;D11S4633;D1Bda2;G02149;G02301;G20711;PRDM11_3660;RH46268;RH48132;RH48405;SHGC-141727;SHGC-31737;SHGC-36809;SHGC-53097;SHGC-56565;SHGC-57630;SHGC-79552 FLJ14242;PFM8 OTTHUMP00000232975;OTTHUMP00000232977;PR domain-containing protein 11;PR-domain containing protein 11 protein-coding ENSG00000019485 HGNC:13996 11456 VALIDATED 1316344 PRDM14 PR domain containing 14 This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011] 8 8 8 q13.3 66961694 66981231 - 70963886 70983562 - 70051651 70071327 - 1580863;6480464;8695944;8554872 24825349 10668202;10737800;12477932;14675547;14702039;15489334;17942894;18187620;18194669;20211142;20467438;20840815;20953172;23280602;23666240;23690269;24722188 63978 C9JMM8;Q9GZV8 ABBA01041936;AC090574;AF319458;AK022595;AMYH02018165;BC052311;BF770200;CH471068;CX166395;CX788380;KJ463837;NM_024504 AAG39635;AAH52311;ABZ92370;ADR82707;AHX99430;BAB14120;EAW86962;NP_078780;Q9GZV8 Hs.736037 1706456;2217832 PRDM14_3672;SHGC-81111 MGC59730;PFM11 OTTHUMP00000197599;PR domain zinc finger protein 14;PR domain-containing 14;PR domain-containing protein 14;PR-domain zinc finger protein 14 APPROVED protein-coding ENSG00000147596 HGNC:14001 11457 611781 REVIEWED 732265 PRDM4 PR domain containing 4 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008] 12 12 12 q23-q24.1 107792201 107820465 - 108126643 108155049 - 107732866 107761137 - 1580863;6480464;6907045;8554872 10552934;12371150;12477932;14702039;15051733;15231748;15489334;16751776;20211142;20379614;21604305;21890473;21988832;24250222 11108 B3KPI0;F8VRG2;F8VZQ2;H0YIF6;Q9UKN5 ABBA01053148;ABBA01053149;AC007622;AF144757;AK056378;AL133083;AL832804;AMYH02027147;BC035581;BC068562;BU502236;CH471054;NM_012406;XM_005268593;XM_006719205 AAD55249;AAH35581;AAH68562;ABM82163;ABM85348;BAG51692;CAB61401;CAI46888;EAW97804;EAW97805;NP_036538;Q9UKN5;XP_005268650;XP_006719268 Hs.506655 1670991;1671444;1671446;1686236;1689241;1699162;1712394;2108391;2130376;2181346 A005M11;G20329;G54223;PRDM4_7993;RH103160;RH79609;RH93454;STS-AA005240;STS-T67867;WI-18626 MGC45046;PFM1 OTTHUMP00000242462;PR domain zinc finger protein 4;PR domain-containing protein 4;PR-domain zinc-finger protein PFM1 APPROVED protein-coding ENSG00000110851 HGNC:9348 10425 605780 REVIEWED 1320736 PRDM15 PR domain containing 15 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); methyltransferase activity (inferred); INVOLVED IN methylation (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); PARTICIPATES IN forkhead class A signaling pathway; FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; valproic acid; 2,4-dinitrotoluene (ortholog) 21 21 21 q22.3 28368174 28447099 - 43218385 43299591 - 41798225 41879482 - 1580863;6480464;6484113 10830953;12036297;12036298;12477932;14702039;15904895;19340012;22451204;23006423 63977 E7ER26;P57071;Q4W8S1 AB051812;AB051813;AB051814;AB051815;AB126081;AB209162;ABBA01012274;ABBA01012275;ABBA01012276;ABBA01012804;ABBA01014182;ABBA01014183;ABBA01014184;ABBA01014185;AEKP01110574;AF086532;AF276513;AF426259;AF426260;AK123273;AL109788;AL355710;AMYH02037867;AMYH02037868;AMYH02037869;AMYH02037870;AP001580;AP001618;AP001619;AP001745;AP002955;AY063456;AY078498;BC032305;BC067102;CH471079;KF495739;NM_001040424;NM_001282934;NM_022115;NR_104257;NR_104258;NR_104260;XM_006724039;XM_006724040 AAF78093;AAH67102;AAL60596;AAL85487;AAM53515;AAM53516;BAA95527;BAD92399;BAD99015;BAD99016;BAD99017;BAD99018;BAD99019;BAD99020;EAX09584;EAX09585;EAX09586;EAX09587;NP_001035514;NP_001269863;NP_071398;P57071;XP_006724102;XP_006724103 Hs.473893;Hs.726680 1651619;1685808;1770069;1790643;2120707;2157931;2166239;2217834;5022200;5037552 A002A42;D21S1833;D8S2279;L18426;PRDM15_3671;RH93238;SHGC-52071;SHGC-87659;SHGC-87660;STS_CEB274 C21orf83;PFM15;ZNF298 OTTHUMP00000109278;OTTHUMP00000109282;OTTHUMP00000207900;OTTHUMP00000207901;PR domain zinc finger protein 15;PR domain-containing protein 15;zinc finger protein 298 protein-coding ENSG00000141956 HGNC:13999 11458 VALIDATED 1353101 PRDM16 PR domain containing 16 The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 1 p36.23-p33 2184110 2358440 + 2985565 3355185 + 3068497 3438621 + 1580863;6480464;7242632;8699517;7240710;8554872 23200123 11050005;11214970;12168954;12477932;12557231;12816872;14656887;14702039;14712237;16582916;16598304;16637659;18202228;18767145;19049980;19240061;19285866;19505873;19567523;19641492;20101261;20339536;20379614;20634891;21666692;21906983;22039459;22050763;22072275;22383139;22939622;23454374;23524569;23768516;23793025;24021092;24327154;24674449;4063527;8547101 63976 D6RDW0;D6RFY3;H0YA13;Q9HAZ2;U3KQL6 AB051462;AB078876;ABBA01073660;ABBA01073661;ABBA01073662;ABBA01073663;ABBA01073664;ABBA01073665;ABBA01073666;ABBA01073667;AF294278;AI623202;AK093853;AK094178;AK309078;AL008733;AL354743;AL512383;AL590438;AMYH02000133;AMYH02000134;BC110593;BC161614;BQ897896;BX092842;CH471130;KF495847;NG_029576;NM_022114;NM_199454;XM_005244772;XM_005244773;XM_005244774;XM_006710814 AAG33382;AAI61614;AAI68363;BAB21766;BAB84297;EAW71449;EAW71450;EAW71451;NP_071397;NP_955533;Q9HAZ2;XP_005244829;XP_005244830;XP_005244831;XP_006710877 Hs.99500 1644879;1691832;1713251;1724439;1732830;1732836;1732950;1733134;1733160;1747601;1749361;1762621;1763285;1766717;1779772 AL033971;D1S1274;D1S1278;D1S1341;D1S1448;D1S1467;G65472;RH120616;RH122382;SHGC-111116;SHGC-146428;SHGC-147011;SHGC-149994;SHGC-153745;SHGC-74091 CMD1LL;KIAA1675;LVNC8;MEL1;MGC166915;PFM13 MDS1/EVI1-like gene 1;OTTHUMP00000000611;OTTHUMP00000000612;OTTHUMP00000000613;OTTHUMP00000221381;OTTHUMP00000221382;OTTHUMP00000221383;PR domain zinc finger protein 16;PR domain-containing protein 16;PR-domain zinc finger protein 16;transcription factor MEL1 APPROVED protein-coding ENSG00000142611 HGNC:14000 16122 605557;615373 REVIEWED 1348506 PRDM2 PR domain containing 2, with ZNF domain This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 1 1 1 p36.21 12508705 12633526 + 14026714 14151574 + 13700219 13825079 + 1580863;6480464;7242632 23200123 10706618;10737800;11719434;12002276;12082534;12472571;12477932;14534544;14633678;15282304;15302935;15309726;15488642;15579774;15765097;15809732;15964548;16501248;16710414;16953217;17081983;17103461;17205536;17356055;17693662;17922684;17963297;18029348;18037365;18082620;18488713;18712668;18852888;19064572;19124506;19460752;19602237;19746436;19843671;20159667;20508921;20594067;20675009;20828818;20878080;20960050;21041608;21369371;21503890;22300346;22363126;22372344;22614009;23098508;24115813;7538672;7590293;8654390;8661032;9006946;9223517;9334209;9632640;9766644 7799 D6RAA0;D6RED5;D6RJM6;H0Y9J3;Q13029;S4R3F7 AB208877;ABBA01017223;ABBA01017224;AF472587;AI651991;AK123605;AK124197;AK293725;AK300441;AK307377;AK308135;AK311678;AL031277;AL359771;AL583942;AMYH02000325;AMYH02000326;AW444997;BC014468;BC032768;BC140012;BF378912;BM008289;BU621515;BX647310;CH471167;D45132;NM_001007257;NM_001135610;NM_012231;NM_015866;U17838;U23736;XM_005245992;XM_005245993;XM_005245994;XM_005245995;XM_005245996;XM_005245997;XM_005245998;XM_006710877;XM_006710878;XM_006710879;XM_006710880 AAA87023;AAC50820;AAI72414;BAA08110;BAD92114;BAG57154;BAG62164;EAW51695;EAW51696;EAW51697;EAW51698;NP_001007258;NP_001129082;NP_036363;NP_056950;Q13029;XP_005246049;XP_005246050;XP_005246051;XP_005246052;XP_005246053;XP_005246054;XP_005246055;XP_006710940;XP_006710941;XP_006710942;XP_006710943 Hs.371823 1644733;1644816;1645221;1664470;1684836;1707798;1709748;1732894;1767988;1794432;1794434;2155179;2217836;5014051;5015961;5016478;5021684;5022651;5037552 D11S2921;D15S1477;D1S1311;D1S1554;D8S2278;D8S2279;GDB:434012;PMC312773P2;PMC312773P3;PRDM2_3895;RH92373;SHGC-57622;SHGC-74220;SHGC-74233;SHGC-74237;SHGC-82124;SHGC-84685;WI-14635;ksks160 HUMHOXY1;KMT8;MTB-ZF;RIZ;RIZ1;RIZ2 GATA-3 binding protein G3B;GATA-3-binding protein G3B;MTE-binding protein;OTTHUMP00000009642;OTTHUMP00000009685;OTTHUMP00000009686;OTTHUMP00000009687;OTTHUMP00000221538;PR domain zinc finger protein 2;PR domain-containing protein 2;lysine N-methyltransferase 8;retinoblastoma protein-binding zinc finger protein;retinoblastoma protein-interacting zinc finger protein;zinc finger protein RIZ;zinc-finger DNA-binding protein APPROVED protein-coding ENSG00000116731 HGNC:9347 03120 601196 REVIEWED 1350258 PRDM6 PR domain containing 6 ENCODES a protein that exhibits histone-lysine N-methyltransferase activity (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN histone lysine methylation (inferred); negative regulation of smooth muscle cell differentiation (inferred); negative regulation of transcription, DNA-templated (inferred); PARTICIPATES IN histone modification pathway; FOUND IN nucleus (inferred); INTERACTS WITH valproic acid; zinc atom; zinc(0) 5 5 5 q23.2 118380070 118479243 + 122424841 122529960 + 123089146 123194266 + 1580863;6480464;7242632 23200123 16537907;20379614 93166 H7BZR2;Q9NQX0 ABBA01068945;ABBA01068946;AC008548;AC106786;AF272898;AF272899;AK297992;AMYH02012097;AMYH02012098;KF510881;NM_001136239;XM_005272128 AAF78078;AAF78079;BAG60300;NP_001129711;Q9NQX0;XP_005272185 Hs.135118 1776979;1785458 L28179;SHGC-149439 OTTHUMP00000197432;PR domain zinc finger protein 6;PR domain-containing protein 6;PR-domain zinc finger protein 6;putative histone-lysine N-methyltransferase PRDM6 protein-coding ENSG00000061455 HGNC:9350 VALIDATED 1323184 PRDM8 PR domain containing 8 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); histone methyltransferase activity (H3-K9 specific) (inferred); INVOLVED IN corpus callosum morphogenesis (inferred); corticospinal tract morphogenesis (inferred); histone H3-K9 methylation (inferred); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; amiodarone 4 4 4 q21 78399921 78418995 + 81105033 81125483 + 80183879 80204329 + 1580863;6480464;7242632;8554872 23200123 10668202;12477932;14675547;15342556;15489334;19430483;22961547 56978 E9PEH0;Q05CA1;Q9NQV8 ABBA01063401;AC021127;AF275815;AI077328;AK292137;AMYH02009564;BC027929;BC058908;BC071584;BP219935;CH471057;NM_001099403;NM_020226;XM_005263143;XM_005263144;XM_005263145;XM_005263146;XM_006714279 AAF87241;AAH27929;AAH71584;BAF84826;EAX05851;EAX05852;EAX05853;EAX05854;EAX05855;EAX05856;EAX05857;EAX05858;NP_001092873;NP_064611;Q9NQV8;XP_005263200;XP_005263201;XP_005263202;XP_005263203;XP_006714342 Hs.373642 1693280;2110675;2166945 G42343;PRDM8_8072;SHGC-67366 PFM5 OTTHUMP00000219208;OTTHUMP00000219209;OTTHUMP00000219210;PR domain zinc finger protein 8;PR domain-containing protein 8;PR-domain containing protein 8 protein-coding ENSG00000152784 HGNC:13993 17904 VALIDATED 1349245 PRDM9 PR domain containing 9 The PR domain is a protein-protein interaction module of about 100 amino acids. PR domain-containing proteins, such as PRDM9, are often involved in transcriptional regulation (Jiang and Huang, 2000 [PubMed 10668202]).[supplied by OMIM, Mar 2008] 5 5 5 p14 23396917 23417900 + 23507724 23528706 + 23507615 23528597 + 6480464;7242632;8554872 23200123 10668202;14675547;18231586;18941885;19168450;20041164;20044538;20044539;20044541;2062643;20818382;20981099;21750151;22162947;22643917;23190393;23222848;23267059;24634223 56979 D6RD68;Q9NQV7 ABBA01066611;ABBA01066612;ABBA01066613;ABBA01066614;AC025451;AF275816;AK301776;AMYH02011029;CH471118;DQ388610;GU216222;GU216223;HM210983;HM210984;HM210986;HM210999;NM_020227 AAF87242;ABD47939;ADA71145;ADA71146;ADK09877;ADK09878;ADK09880;ADK09893;BAG63234;EAX10738;EAX10739;EAX10740;NP_064612;Q9NQV7 Hs.283096 1779106;2217838 L28288;PRDM9_3659 MSBP3;PFM6;PRMD9;ZNF899 MEISETZ;OTTHUMP00000220835;PR domain zinc finger protein 9;PR domain-containing protein 9;PR-domain containing protein 9;histone-lysine N-methyltransferase PRDM9;minisatellite binding protein 3 (115kD);minisatellite binding protein 3, 115kDa APPROVED protein-coding ENSG00000164256 HGNC:13994 17905 609760 PROVISIONAL 7205014 PRDX2P2 peroxiredoxin 2 pseudogene 2 10 10 10 p11.21 35019362 35020549 + 35253997 35255184 + 34965069 34966256 + 646218 ABBA01033348;AL450337;AMYH02022611;NG_022167 pseudo HGNC:44967 INFERRED 1354492 PRDX2P1 peroxiredoxin 2 pseudogene 1 13 13 13 p12 11939746 11940665 + 30870205 30871124 + 30296068 30296987 + 7607688 359844 ABBA01035702;AL356750;AMYH02027791;NG_002915 1801448;1861604;1861606;1861608;1861610;1861612;1861614;1861616;1861618;1861620;1861622;1861624;1861626;1861628;1861630;1861632;1861634;1861636;2197398 ECD01598;REN1460;REN1461;REN1462;REN1463;REN1464;REN1465;REN1466;REN1467;REN1468;REN1469;REN1470;REN1471;REN1472;REN1473;REN1474;REN1475;REN1476;stSG616755 pseudo HGNC:30020 INFERRED 7204926 PRDX2P3 peroxiredoxin 2 pseudogene 3 5 5 5 174625245 174625827 + 178999157 178999739 + 179572156 179572738 + 100418943 ABBA01010022;AC136604;AMYH02012880;NG_024751;NG_031967 pseudo HGNC:44968 INFERRED 1318295 PRDM5 PR domain containing 5 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008] 4 4 4 q25-q26 119000898 119228989 - 121613070 121844013 - 120691915 120922858 - 1580863;6480464;8699517;8554872;7240710 10668202;12477932;14675547;14702039;15077163;17636019;17699856;17903298;19460752;20213097;20332099;20379614;21326311;21664999;22087297;23251661;23873026;24395656 11107 H0Y9S1;Q9NQX1 ABBA01044721;AC025741;AC104068;AC104795;AF272897;AK056352;AK310958;AK314293;AMYH02010001;AMYH02010002;AMYH02010003;AW341546;BC047115;BC066942;BC121037;BC121038;BM563688;BX646150;CH471056;NG_031862;NM_001300823;NM_001300824;NM_018699;XM_005262706;XM_005262707;XM_005262708;XM_006714072 AAF78077;AAH66942;AAI21038;AAI21039;BAG51686;EAX05267;EAX05268;EAX05269;NP_001287752;NP_001287753;NP_061169;Q9NQX1;XP_005262763;XP_005262764;XP_005262765;XP_006714135 Hs.666782 1657993;1688152;1709064;1762257;1767573;1848510;2125399;7185604 D4S1125;D4S247;D4S2881;SHGC-12163;SHGC-146118;SHGC-50733;SHGC-85678 BCS2;PFM2 OTTHUMP00000163922;OTTHUMP00000219783;OTTHUMP00000219784;PR domain zinc finger protein 5;PR domain-containing protein 5 APPROVED protein-coding ENSG00000138738 HGNC:9349 17902 614161;614170 REVIEWED 1313164 PRDM7 PR domain containing 7 This gene encodes a member of a family of proteins that may have roles in transcription and other nuclear processes. The encoded protein contains a KRAB (Kruppel-associated box) domain -A box and a SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain and may function as a histone methyltransferase. [provided by RefSeq, Aug 2013] 16 16 16 q24.3 75187748 75207107 - 90122974 90143708 - 90056566 90077300 - 1580863;6480464 10668202;12477932;14675547;14759258;17916234;18187620;18231586 11105 A4Q9G9;H3BUJ3;Q9NQW5 ABBA01014113;ABBA01014114;AC133919;AF274347;AF274348;AL137711;AM690991;AM690992;AM690993;AMYH02032692;BC107033;CH471184;NM_001098173;XM_005256274;XM_005256275 AAF78084;AAF78085;AAI07034;CAM84449;CAM84450;CAM84451;EAW66653;EAW66654;EAW66655;EAW66656;EAW66657;NP_001091643;Q9NQW5;XP_005256331;XP_005256332 Hs.406695 1779106 L28288 MGC129525;PFM4;ZNF910 OTTHUMP00000176850;PR domain zinc finger protein 7;PR domain-containing protein 7;PR-domain family protein 4;probable histone-lysine N-methyltransferase PRDM7 APPROVED protein-coding HGNC:9351 17903 609759 REVIEWED 7205335 PRDX2P4 peroxiredoxin 2 pseudogene 4 6 6 6 q16.2 101227942 101228826 + 100583868 100584752 + 100135992 100136876 + 442239 ABBA01014471;AL080285;AMYH02014191;NG_022363 1852356 STS-Z22548 pseudo HGNC:44969 INFERRED 4889295 PRDX3P1 peroxiredoxin 3 pseudogene 1 22 22 22 22925428 22926188 - 39118749 39119509 - 38722744 38723504 - 100419031 ABBA01055533;AL021707;AMYH02038364;NG_027433 pseudo HGNC:39264 INFERRED 4889391 PRDX3P2 peroxiredoxin 3 pseudogene 2 1 1 1 p35.3 27248605 27249517 - 28852828 28853740 - 28526316 28527228 - 100128092 ABBA01035034;AL513497;AMYH02000630;NG_022715 1789304;5018033 G67872;PRDX3-1 pseudo HGNC:39265 INFERRED 4889363 PRDX3P3 peroxiredoxin 3 pseudogene 3 13 13 13 q13.3 20245311 20245886 - 39191559 39192134 - 38617422 38617997 - 100128902 ABBA01021324;AC017111;AMYH02027892;NG_021959 pseudo HGNC:39266 INFERRED 7175196 PRDX3P4 peroxiredoxin 3 pseudogene 4 3 3 3 p14 64176846 64177592 + 64160077 64160823 + 64174401 64175147 + 100418955 ABBA01024311;AC092040;AMYH02006953;NG_025701;NG_031930 pseudo HGNC:44643 INFERRED 1349610 PRDX3 peroxiredoxin 3 This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22. [provided by RefSeq, Oct 2014] 10 10 10 q25-q26 114656794 114667924 - 120927215 120938377 - 119167703 119178865 - 1580863;6480464 11285261;11591653;11771746;11904290;12011429;12059788;12080185;12477932;12492477;12530083;12650976;1286669;15164054;15231747;15280382;15489334;15750338;16189514;16236267;16385451;17060495;17548047;17574212;17601350;17676665;17893648;18084903;18084904;18195003;18205602;18262354;18378575;18778410;18781797;18977241;19135121;19176523;19424615;19460752;19462976;19738201;19819956;19847302;20000738;20043069;20237496;20718351;20811636;20840079;20873783;20877624;20929858;21031435;21081666;21127481;21139048;21145461;21220625;21319273;21385867;21795677;21800051;21890473;21903422;21906983;21963094;21988832;22016591;22344546;22424448;22496757;22623428;22628295;22710126;22863883;22939629;23018647;23113308;23157748;23190175;23455922;23503975;23564483;23880827;24003226;24250222;24583282;24654937;24698430;24773279;24789097;25093297;25229973;7733872;8125298;9363753 10935 P30048 ABBA01062906;ABBA01062907;AF118073;AK130897;AK222659;AK313169;AL355861;AMYH02023903;AV718278;AV737791;AV761690;BC002685;BC007062;BC008435;BC009601;BC021691;BC022373;BC059169;BC111397;BF209381;BG115645;BG282768;BM144742;BT020007;BX382389;CD687044;CH471066;CR450344;D49396;DQ298752;EF036492;HY082255;HY173455;NM_001302272;NM_006793;NM_014098;NR_126102;NR_126103;NR_126105;NR_126106;X85129 AAF22017;AAH02685;AAH07062;AAH08435;AAH09601;AAH21691;AAH22373;AAH59169;AAI11398;AAV38810;ABB84468;ABO65078;BAA08389;BAD96379;BAG35987;CAA59443;CAG29340;EAW49396;EAW49397;EAW49398;EAW49399;NP_001289201;NP_006784;NP_054817;P30048 Hs.523302 1687217;1694576;1856583;2121711;2217842;5018033 G43270;PRDX3-1;PRDX3_3538;RH11191;RH68895;RH71324 AOP-1;AOP1;HBC189;MER5;MGC104387;MGC24293;PRO1748;SP-22;prx-III OTTHUMP00000020590;antioxidant protein 1;peroxiredoxin III;peroxiredoxin-3;protein MER5 homolog;thioredoxin-dependent peroxide reductase, mitochondrial APPROVED protein-coding ENSG00000165672 HGNC:9354 05305 604769 REVIEWED 6480408 PRDX4P1 peroxiredoxin 4 pseudogene 1 4 4 4 45394362 45394922 - 44946456 44947016 - 44944439 44944999 - 100418949 ABBA01014313;AC093755;AMYH02009139;NG_025098 pseudo HGNC:43598 INFERRED 6480409 PRDX4P2 peroxiredoxin 4 pseudogene 2 5 5 5 38083945 38084473 + 38197719 38198247 + 38197617 38198145 + 100418942 ABBA01024197;AC010338;AMYH02011185;NG_024668 pseudo HGNC:43599 INFERRED 733744 PRDX1 peroxiredoxin 1 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011] 1 1 1 p34.1 44260797 44271582 - 45976707 45988562 - 45511035 45522890 - 1580863;6480464 10419887;10530780;10843682;11497302;11752456;11771746;11904290;11986303;12059788;12080185;12161445;12196529;12421812;12477932;12517450;12650976;12714748;12853451;14703116;15105503;15161933;15448164;15489334;15592455;15635413;15840729;15864612;15955662;16009940;16169070;16189514;16196087;16278420;16341674;16376335;16583711;16677601;16710414;16815975;17081065;17141802;17176052;17234762;17352427;17519234;17540176;17601350;17603937;17606720;17676665;17707450;17761673;17786348;17893145;17909037;18029348;18172504;18271526;18281480;18303054;18413821;18501712;18549262;18606987;18624398;18977241;18992915;19016754;19135121;19167051;19199708;19286652;19298244;19338310;19380743;19406930;19471022;19558833;19737972;19738201;19766572;19812042;19902980;20237496;20381070;20589759;20610706;20631257;20647304;20877624;21044950;21139048;21145461;21159870;21273562;21319273;21343392;21401077;21415862;21516123;21565611;21800051;21890473;21906983;21963094;21980378;21987572;21988832;22053931;22158042;22178446;22215146;22234250;22236188;22323290;22446018;22475482;22492841;22505724;22537621;22623428;22810585;22863883;22877757;22902630;22939629;22944692;22985558;23000965;23060010;23065574;23084401;23113308;23241402;23246001;23277276;23334324;23386615;23421996;23455922;23479738;23537643;23615915;23723070;23737084;23824729;23956138;24009050;24062305;24152995;24244333;24295341;24297309;24316730;24332808;24457600;24480440;24583282;24816145;25015289;7702627;8026862;8089076;8123050;8188254;8496166;9334312;9388242 5052 Q06830 AB451262;AB451388;ABBA01050865;ABBA01050866;ABBA01050867;AI912389;AK131049;AK311898;AL355480;AL451136;AMYH02000930;AMYH02000931;AMYH02000932;AMYH02000933;AV691526;BC007063;BC021683;BM740381;BM762399;BM787105;BM827394;BT019740;BU564066;CD638470;CH471059;CQ877459;CR407652;DQ297142;L19184;NM_001202431;NM_002574;NM_181696;NM_181697;X67951;X72296 AAA50464;AAH07063;AAH21683;AAV38545;ABB84465;ABM84099;ABM87471;BAG34839;BAG70076;BAG70202;CAA48137;CAG28580;CAH59516;EAX06975;EAX06976;EAX06977;EAX06978;EAX06979;EAX06980;EAX06981;EAX06982;NP_001189360;NP_002565;NP_859047;NP_859048;Q06830 Hs.180909;Hs.731900 1657787;1659968;1727091;1754047;1763031;2137153;5124866 A007G24;D1S2391;G62947;RH69651;RH70158;SHGC-132089;SHGC-146777 MSP23;NKEF-A;PAG;PAGA;PAGB;PRX1;PRXI;TDPX2 NKEFA;OTTHUMP00000009234;OTTHUMP00000009235;OTTHUMP00000009237;natural killer cell-enhancing factor A;natural killer-enhancing factor A;peroxiredoxin-1;proliferation-associated gene A;proliferation-associated gene protein;thioredoxin peroxidase 2;thioredoxin-dependent peroxide reductase 2 APPROVED protein-coding ENSG00000117450 HGNC:9352 01458 176763 REVIEWED 731497 PRDX4 peroxiredoxin 4 The protein encoded by this gene is an antioxidant enzyme and belongs to the peroxiredoxin family. The protein is localized to the cytoplasm. Peroxidases of the peroxiredoxin family reduce hydrogen peroxide and alkyl hydroperoxides to water and alcohol with the use of reducing equivalents derived from thiol-containing donor molecules. This protein has been found to play a regulatory role in the activation of the transcription factor NF-kappaB. [provided by RefSeq, Jul 2008] X X X p22.11 27807255 27826109 + 23682377 23704516 + 23664260 23686399 + 1580863;6480464 11358524;12059788;12080185;12477932;12927788;15489334;15952740;16236267;17601350;17644091;17676665;18052930;18272409;18781797;18977241;19199708;19364504;20000738;20157331;20186120;20237496;20446767;20610706;20811636;21031435;21057456;21081666;21139048;21145461;21283059;21283726;21487000;21693047;21693764;21698479;21859152;21890473;21900206;21906983;21916849;21963094;21988832;21994946;22045733;22053931;22190034;22360420;22424448;22505724;22586326;22810585;22863883;22916164;22939629;23000965;23190175;23246001;23316297;23402259;23455922;23737084;23949117;23979138;24098506;24403061;24450625;24457600;24583282;24654937;24816145;9388242 10549 A6NG45;A6NJJ0;H7C3T4;Q13162;V9HW63 ABBA01072207;ABBA01072208;ABBA01072209;ABBA01072210;AC093011;AMYH02039029;AMYH02039030;BC003609;BC007107;BC016770;CH471074;CR541668;CR541705;FJ224297;NG_012563;NM_006406;U25182;XM_005274438 AAB95175;AAH03609;AAH07107;AAH16770;ABM84525;ABM85953;ACI45989;CAG46469;CAG46506;EAW98996;NP_006397;Q13162;XP_005274495 Hs.83383 1791630;1791632;1791634;1791636;1791638;1791640;1791642;5017890;5109733 D1S2039E;PMC117784P1;PMC117784P2;PMC117784P3;PMC117784P4;PMC117784P5;PMC117784P6;PMC117784P7;PRDX4 AOE37-2;AOE372;HEL-S-97n;PRX-4;prx-IV OTTHUMP00000023056;antioxidant enzyme AOE372;epididymis secretory sperm binding protein Li 97n;peroxiredoxin IV;peroxiredoxin-4;thioredoxin peroxidase (antioxidant enzyme);thioredoxin peroxidase AO372;thioredoxin-dependent peroxide reductase A0372 APPROVED protein-coding ENSG00000123131 HGNC:17169 05935 300927 REVIEWED 1347956 PRDX5 peroxiredoxin 5 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. This protein interacts with peroxisome receptor 1. The crystal structure of this protein in its reduced form has been resolved to 1.5 angstrom resolution. This gene uses alternate in-frame translation initiation sites to generate mitochondrial or peroxisomal/cytoplasmic forms. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13 61411653 61415367 + 64085347 64089295 + 64317962 64321823 + 70622;1580863;6480464;8554872 10521424 10095767;10424490;10514471;10679306;10751410;10931946;11518528;11832487;12417342;12477932;12517450;1286669;14662316;14732291;14741336;15046979;15276323;15280035;15304327;15489334;15785239;15848167;16169070;16781710;16817890;17601350;17623739;17628720;17892856;18219526;18262354;18378575;18489898;18977241;19016754;19056867;19336475;19615732;20178365;20186120;20305821;20596022;20877624;20937353;21102463;21139048;21832049;21890473;21906983;22020876;22304920;22837380;22939629;23000965;23216451;24250222;24385276;24550385;24583282;24816145 25824 P30044 AA187737;ABBA01003296;AF110731;AF112212;AF124993;AF197952;AF231705;AF242525;AJ249483;AMYH02024933;AP001453;AP003774;BC110983;BC113723;BC113725;BC143849;BC171733;BU598032;CR457203;CS185549;DQ247769;FJ224298;HH826017;NM_012094;NM_181651;NM_181652;XM_005273882 AAF03750;AAF04856;AAF17200;AAF27531;AAF78899;AAF99605;AAI10984;AAI13724;AAI13726;AAI43850;AAI71733;ABB05181;ACI45990;ADR82883;CAB62210;CAG33484;CAJ42730;CBX32673;NP_036226;NP_857634;NP_857635;P30044;XP_005273939 Hs.502823 1660884;1719759;1735160;2154736;2167495;5015861;5124469 D10S16;D3S2813E;G33076;RH123571;RH93737;SGC30525;WI-8671 ACR1;AOEB166;B166;HEL-S-55;MGC117264;MGC142283;MGC142285;PLP;PMP20;PRDX6;PRXV;SBBI10;prx-V Alu co-repressor 1;OTTHUMP00000239506;OTTHUMP00000239507;OTTHUMP00000239508;TPx type VI;alu corepressor 1;antioxidant enzyme B166;epididymis secretory protein Li 55;liver tissue 2D-page spot 71B;peroxiredoxin V;peroxiredoxin-5, mitochondrial;peroxisomal antioxidant enzyme;thioredoxin peroxidase PMP20;thioredoxin reductase APPROVED protein-coding ENSG00000126432 HGNC:9355 05958 606583 REVIEWED 1352675 PREB prolactin regulatory element binding This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 27199929 27203847 - 27353624 27357542 - 27130756 27134674 - 61705;1580863;6480464;6907045 10194769 10920239;11031247;11252894;12477932;12735795;14702039;15489334;15761153;18029348;19086053;19426980;19946888;20360068;20643408;21139048;21890473;21906983;21963094;22190034;22939624;22939629;23000965;24250222;24550385;24816145 10113 B5MC98;F8WCS5;H7BZX0;H7C0W3;H7C2N7;Q9HCU5 AA629936;ABBA01045195;AC013403;AF203687;AF226684;AF227166;AK001976;AK023064;AK023405;AK292178;AMYH02003472;BC002765;BC008658;BC012890;BC016472;BC016906;BC036185;BC041032;BG715668;CH471053;NM_013388;XM_006711914 AAF19192;AAF74572;AAG01692;AAH02765;AAH12890;AAH16472;AAH16906;AAH41032;AAX93170;ABM83046;BAB14385;BAF84867;EAX00626;EAX00627;EAX00628;EAX00629;EAX00630;NP_037520;Q9HCU5;XP_006711977 Hs.279784 1678143;1681223;1772066;2113566;2161521 MARC_49992-49993:1124119588:2;RH35839;RH92602;STS-N81134;WI-21131 MGC3467;SEC12 OTTHUMP00000122594;OTTHUMP00000200948;mammalian guanine nucleotide exchange factor mSec12;prolactin regulatory binding-element protein;prolactin regulatory element-binding protein APPROVED protein-coding ENSG00000138073 HGNC:9356 16216 606395 REVIEWED 1602898 PRDX6 peroxiredoxin 6 The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. [provided by RefSeq, Jul 2008] 1 1 1 q25.1 146555898 146567358 + 173446486 173457946 + 173477347 173488807 + 6480464;6907045 10893423;11233154;11677226;12059788;12121978;12193653;12477932;12650976;12665801;1286669;14751239;15489334;15592455;15604093;15890616;15941719;1602151;16186110;16236267;16330552;16710414;16815975;17207965;17653765;17980029;18025307;18029348;18386021;18619034;18781797;18826942;18973804;19056867;19135240;19140803;19165527;19188445;19236840;19405953;19566940;19572226;19700648;19738201;19889963;19937138;19946888;20000738;20237496;20354123;20485444;20532202;20796224;20829884;20849852;20877624;21044950;21081666;21139048;21145461;21166495;21319273;21346153;21415860;21627785;21800051;21890473;21906983;21963094;21988832;22053931;22178385;22215146;22236188;22492841;22505724;22623428;22663767;22678913;22939629;22985558;22990118;23000965;23113308;23125841;23158669;23164639;23402259;23455922;23815338;240188;24316730;24337577;24391750;24583282;24654937;24816145;24910119;2730891;7788527;8313871;8999971;9050990;9497358;9587003 9588 P30041;V9HWC7 ABBA01027905;AJ844621;AJ844622;AK289352;AK300680;AL139142;AMYH02002154;AMYH02002155;BC025421;BC035857;BC053550;CH471067;D14662;DQ230990;EU794652;HH826019;NM_004905 AAH35857;AAH53550;ABB02185;ACJ13706;ADQ32658;BAA03496;BAF82041;BAG62363;CAH59743;CBX32674;EAW90944;EAW90945;NP_004896;P30041 Hs.120;Hs.731505 1669974;1712104;1735104;1736366;1754045;1767841;1856960;2168027;2168729;2185062;5494185 D1S2049E;D1S3439;D3S2781E;G54101;Prdx5-rs2;RH11490;RH25333;SHGC-132088;SHGC-30150;SHGC-75911;WIAF-1576 1-Cys;AOP2;HEL-S-128m;KIAA0106;MGC46173;NSGPx;PRX;aiPLA2;p29 1-Cys PRX;1-Cys peroxiredoxin;24 kDa protein;OTTHUMP00000032693;acidic calcium-independent phospholipase A2;antioxidant protein 2;epididymis secretory sperm binding protein Li 128m;liver 2D page spot 40;non-selenium glutathione peroxidase;peroxiredoxin-6;red blood cells page spot 12 APPROVED protein-coding ENSG00000117592 HGNC:16753 03817 602316 REVIEWED 1604018 PRELID1 PRELI domain containing 1 This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012] 5 5 5 q35.3 171767411 171770526 - 176730763 176733960 + 177303762 177306959 + 6480464;8554872 10784606;10810093;10931946;12477932;14640972;15489334;18029348;18945965;20877624;21364629;21890473;21906983;22666421;22703881;23931759 27166 D6RC47;D6REW1;H0YA79;Q9Y255 AA844687;ABBA01033458;AC146507;AF087858;AF111112;AF112203;AF151864;AF153607;AF201925;AK312170;AMYH02012833;BC000007;BC007268;BC008307;BC008866;BC013733;BC013748;BC018904;BG739785;BU956915;CH471195;NM_001271828;NM_013237;U94779 AAD34101;AAD41089;AAF09255;AAF17191;AAF27195;AAH00007;AAH07268;AAH08307;AAH08866;AAH13733;AAH13748;AAP97168;ABM81968;ABM85147;BAG35104;EAW85021;EAW85022;EAW85023;NP_001258757;NP_037369;Q9Y255 Hs.744904 1682039;2144299;5019557;5126215 G09547;G54137;RH69707;STS-N94309 CGI-106;MGC87972;PX19;SBBI12 25 kDa protein of relevant evolutionary and lymphoid interest;OTTHUMP00000161433;OTTHUMP00000223599;OTTHUMP00000223602;PRELI;PRELI domain-containing protein 1, mitochondrial;protein of relevant evolutionary and lymphoid interest;px19-like protein protein-coding ENSG00000169230 HGNC:30255 16149 605733 REVIEWED 6482765 PRELID1P2 PRELI domain containing 1 pseudogene 2 6 6 6 26906208 26906852 - 25679007 25679651 - 25678779 25679423 - 100419971 ABBA01066548;AL022170;AMYH02013341;NG_025789 pseudo HGNC:43887 INFERRED 6482763 PRELID1P3 PRELI domain containing 1 pseudogene 3 10 10 10 58454576 58455222 + 65187057 65187703 + 63427297 63427943 + 100420046 ABBA01019502;AC022022;AMYH02023201;NG_025509 pseudo HGNC:43888 INFERRED 6482767 PRELID1P1 PRELI domain containing 1 pseudogene 1 6 6 6 q22.32 127707056 127707703 + 126964786 126965433 + 126643640 126644287 + 728666 ABBA01025941;AL359535;AMYH02014442;NG_022903 pseudo HGNC:43886 INFERRED 6482768 PRELID1P4 PRELI domain containing 1 pseudogene 4 15 15 15 q14 12172911 12173571 - 35413625 35414285 - 35121424 35122084 - 390572 ABBA01038507;AC021231;AMYH02030188;NG_022107 pseudo HGNC:43889 INFERRED 1606141 PRELID2 PRELI domain containing 2 INTERACTS WITH (-)-epigallocatechin 3-gallate; dioxygen; paracetamol 5 5 5 q32 141218657 141295020 - 145138582 145214899 - 145756344 145835369 - 6480464 12477932;14702039;16344560;17207965;20379614;20877624 153768 D6RAB6;Q8N945 ABBA01026346;AC011355;AC011359;AK095695;AK125215;AMYH02012402;BC012033;BC028175;BQ645893;BU167299;BU186346;CH471062;DB266840;NM_138492;NM_182960;NM_205846 AAH12033;ADQ31783;BAC04611;EAW61857;EAW61858;NP_612501;NP_892005;NP_995318;Q8N945 Hs.314261 1338437;5015619;5015961;5037552;7187959 D11S3114;D15S1477;D5S436;D8S2279 FLJ38376;MGC21644 OTTHUMP00000223713;OTTHUMP00000223714;OTTHUMP00000223715;OTTHUMP00000223716;PRELI domain-containing protein 2 protein-coding HGNC:28306 14479 VALIDATED 732518 PREP prolyl endopeptidase The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008] 6 6 6 q22 106347577 106473093 - 105725442 105850999 - 105277567 105403124 - 1580863;6480464 11137456;11792464;12173;12477932;12603817;14702039;15380924;15838896;16092940;16341674;16344560;16700513;17324276;17401647;17454876;18781797;19782684;19795399;19946888;20195514;20362629;20370893;20379614;20468064;20534982;20869470;21139048;21487212;21620802;21890473;21906983;22132071;22586326;22740343;22750443;22797925;22939629;22990118;23041349;23348613;23562579;23643808;24269815;24465166;24654937;2858361;3292288;3480758;3525564;3891453;6358755;6389730;7588785;7959018;8089089;8889548;8893811;9695945 5550 B2RAH7;H0Y5Y0;P48147 AB020018;AB028867;ABBA01014392;AK314195;AL133406;AL139191;AL590871;AMYH02014228;AMYH02014229;AY660966;BC030636;BM828521;BU728077;CH471051;D21102;DA790125;NG_011472;NM_002726;X74496;XM_005267044 AAH30636;AAV70495;ABM84353;ABM87741;BAA04661;BAA86936;BAB19053;BAG36874;CAA52605;EAW48426;NP_002717;P48147;XP_005267101 Hs.436564 1696138;1717501;1778152;1797172;1848401;1849179;1855969;2107523;2124044;2135437;2135880;2137661;2140066 A003P37;D6S1850;D6S2192;PREP;PREP__6930;RH122256;RH15820;RH36060;RH46657;RH46808;RH65519;SHGC-30773;SHGC-79072 MGC16060;PE;PEP OTTHUMP00000016916;dJ355L5.1 (prolyl endopeptidase);post-proline cleaving enzyme;prolyl oligopeptidase APPROVED protein-coding ENSG00000085377 HGNC:9358 02673 600400 REVIEWED 732559 PRELP proline/arginine-rich end leucine-rich repeat protein The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 1 1 1 q32 176574517 176590114 + 203444883 203460480 + 203475755 203491352 + 6480464 11847210;12107410;12437997;12477932;14702039;15489334;17093390;17123807;19199708;19536175;20201926;20467438;22267731;23442027;23826326;7592739;8889548;8954791;9806887 5549 P51888;Q7Z4B2 ABBA01027480;ABBA01027481;AK098245;AL391817;AMYH02002513;BC032498;BE275567;BG569381;BI770477;BM705293;BQ010158;BQ181008;BQ182260;BQ706095;BQ777133;BQ778242;CA393630;CA776651;CH471067;CR541787;CR542270;DB498999;NM_002725;NM_201348;R83537;U29089;U41344 AAC18782;AAC50230;AAH32498;CAG46586;CAG47066;EAW91481;NP_002716;NP_958505;P51888 Hs.632481 1652712;1758555;1767142;2108393;2115624;2172131;5022578;5037552;5093226;5109281 A009J41;D1S1423;D1S1425;D1S2097;D8S2279;G32594;PRELP_8563;RH36150;SHGC-148747;SHGC-76172 MGC45323;MST161;MSTP161;SLRR2A 55 kDa leucine-rich repeat protein of articular cartilage;OTTHUMP00000034099;prolargin;prolargin proteoglycan;proline arginine-rich end leucine-rich repeat protein;proline-arginine-rich end leucine-rich repeat protein APPROVED protein-coding ENSG00000188783 HGNC:9357 03556 601914 REVIEWED 736364 PRES prestin (motor protein) ASSOCIATED WITH DEAFNESS, AUTOSOMAL RECESSIVE 61 (inferred) 7240710 53408 613865 1603014 PREX1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 43945979 44149646 - 47240787 47444420 - 48624249 48827883 - 2314605;6480464;8554872 19305425 10718198;11230166;11549316;11756498;11780052;11955434;12123595;12168954;12376548;12477932;12787561;14702039;15489334;15545267;16301320;17227822;17353931;17565979;17698854;17903302;18029348;18602983;18697831;19911011;20018810;20036214;20074642;20379614;20650312;21042280;21172654;21339740;21441931;21636851;21890473;22207728;22242915;22321011;22558309;23033535;23382862;23478800;23496005;23899556 57580 H0YDZ4;Q8TCU6 AB037836;ABBA01052721;ABBA01052722;ABBA01052723;ABBA01052724;ABBA01052725;ABBA01052726;AJ320261;AK090860;AL035106;AL133342;AL136579;AL445192;AL832913;AMYH02037193;AMYH02037194;AMYH02037195;BC009948;BC053616;CH471077;KF511314;NM_020820;XM_005260471 AAH53616;AAI56403;BAA92653;CAB66514;CAC86401;CAH10614;EAW75684;EAW75685;EAW75686;NP_065871;Q8TCU6;XP_005260528 Hs.153310 1335086;1340113;1648720;1675053;1759007;1765165;1767604;1767606;1779390;1848654;1851129;1857764;2169764;2180084;5092924 A005U44;A009C21;D20S176;D20S866;G20522;G32415;RH16260;RH47999;SHGC-148678;SHGC-153381;SHGC-3429;WI-13364;Z94459;Z94587;Z94620 KIAA1415;P-REX1 OTTHUMP00000031228;phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein;ptdIns(3,4,5)-dependent Rac exchanger 1 APPROVED protein-coding ENSG00000124126 HGNC:32594 06066 606905 REVIEWED 1606027 PREPL prolyl endopeptidase-like The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010] 2 2 2 p21 44383700 44427951 - 44544746 44589001 - 44317607 44361862 - 6480464;8554872 11524703;12225859;12477932;15913950;16143824;16344560;16385448;16713569;16913837;18234729;19322201;19575798;19615732;21139048;21890473;21906983;21963094;22796000;22939629;23000965;23794250;24816145;7829101;9455477 9581 C9JMT4;H7BZP6;H7C0M0;Q4J6C6 AB007896;ABBA01075107;AC013717;AC016703;AK025649;AK131463;AMYH02003707;AW020480;BC013193;BC151236;BG717492;CA951923;CH471053;CX166315;DA246860;DA410514;DQ023503;DQ023504;DQ023505;DQ023506;DQ023507;NG_016429;NM_001042385;NM_001042386;NM_001171603;NM_001171606;NM_001171613;NM_001171617;NM_006036;XM_005264653;XM_005264654;XM_005264655;XM_005264657;XM_005264658;XM_005264659;XM_005264660;XM_006712151;XM_006712152 AAH13193;AAI43062;AAI43063;AAI51237;AAX88956;AAY89634;AAY89635;AAY89636;AAY89637;AAY89638;BAA23709;BAD18608;EAX00275;EAX00276;EAX00277;NP_001035844;NP_001035845;NP_001165074;NP_001165077;NP_001165084;NP_001165088;NP_006027;Q4J6C6;XP_005264710;XP_005264711;XP_005264712;XP_005264714;XP_005264715;XP_005264716;XP_005264717;XP_006712214;XP_006712215 Hs.444349 1649716;1676978;1708566;1745891;1745893;1778605;2165488;2180424 D2S2562;GDB:681472;GDB:681483;RH12757;RH19832;RH69205;RH94171;SHGC-85069 FLJ16627;KIAA0436 OTTHUMP00000202417;OTTHUMP00000202418;OTTHUMP00000202419;OTTHUMP00000202420;OTTHUMP00000202421;OTTHUMP00000202422;OTTHUMP00000202423;OTTHUMP00000202424;OTTHUMP00000202425;OTTHUMP00000202426;putative prolyl oligopeptidase APPROVED protein-coding ENSG00000138078 HGNC:30228 17189 609557 REVIEWED 733019 PRDX2 peroxiredoxin 2 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013] 19 19 19 p13.2 12797342 12802402 - 12907634 12912724 - 12796820 12801910 - 1580863;6480464 10751418;10841776;10873855;11410278;11497302;11771746;11904290;11981869;12080185;12421812;12477932;12650976;12853451;1286667;12943237;12963914;14702039;15105503;15342556;15489334;15864612;15902258;15936593;16130169;16188094;16236267;17105810;17145963;17329258;17519234;17524271;17540176;17601350;18003920;18022079;18378575;18387321;18479207;18553980;18578994;18593714;18606608;18606987;18682255;18718523;18781797;18977241;19061854;19151395;19165527;19199708;19286652;19338310;19424615;19471022;19561357;19584157;19666612;19716412;19738201;19896490;20237496;20363977;20646000;20721618;20840079;20859956;21119665;21137073;21139048;21145461;21148313;21163940;21319273;21539911;21750082;21800051;21832049;21890473;21906983;21963094;21988832;22053931;22099303;22178446;22207736;22215146;22360420;22430214;22537621;22565169;22623428;22805285;22863883;22902630;22939629;22944692;22960070;23000965;23113308;23123411;23393224;23429506;23499777;23576398;23603832;23713588;23749642;24003226;24152995;24163370;24222118;24234423;24631019;24631653;24636884;24654937;24719319;24816145;7607688;8026862;8041738;8123012;8144038;8313871;8670254;9150948 7001 A6NIW5;B4DF70;P32119;V9HW12 ABBA01029773;AC018761;AK022395;AK289485;AK293957;AL600939;AMYH02035557;BC000452;BC003022;BC039428;BC064138;BG705975;BP248561;BQ549456;CH471106;CR450356;CR541789;DQ231563;EU668325;L19185;NG_029901;NM_005809;X82321;Z22548 AAA50465;AAH00452;AAH03022;AAH39428;ABB02182;ABM86329;ABW03778;ACF94478;BAF82174;BAG57331;CAA57764;CAA80269;CAG29352;CAG46588;EAW84308;EAW84309;EAW84310;EAW84311;EAW84312;NP_005800;P32119 Hs.432121 1734618;1849597;1852356;2116325;2217840;5015861;5022322;5022576;5024039;7185938 A007L09;D10S16;D11S2560;D16S325;D19S627E;D1S1361;PRDX2_3483;STS-Z22548;WI-18593 HEL-S-2a;MGC4104;NKEF-B;NKEFB;PRP;PRX2;PRXII;PTX1;TDPX1;TPX1;TSA OTTHUMP00000165823;OTTHUMP00000165825;epididymis secretory sperm binding protein Li 2a;natural killer cell-enhancing factor B;natural killer-enhancing factor B;peroxiredoxin-2;thiol-specific antioxidant 1;thiol-specific antioxidant protein;thioredoxin peroxidase 1;thioredoxin-dependent peroxide reductase 1;torin APPROVED protein-coding ENSG00000167815 HGNC:9353 02763 600538 REVIEWED 1317307 PREX2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 ENCODES a protein that exhibits Rac GTPase activator activity; Rac guanyl-nucleotide exchange factor activity; INVOLVED IN G-protein coupled receptor signaling pathway; positive regulation of Rac GTPase activity; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH clorgyline; cobalt dichloride; valproic acid 8 8 8 q13.2 64857879 65137147 + 68864244 69143897 + 67952368 68231662 + 6480464;8554872 14702039;15304342;15304343;15761153;15897194;17565979;19389623;19729658;19861688;20379614;22622578;23033535;24140344;24367090 80243 Q70Z35 ABBA01041907;ABBA01041908;ABBA01041909;AC011853;AC103783;AC104416;AJ437636;AK023049;AK024079;AK294299;AMYH02018143;AMYH02018144;AMYH02018145;AMYH02018146;AY508996;AY508997;AY570973;BK005160;BK005161;NM_024870;NM_025170 AAI46370;AAI48796;AAS59407;AAS82571;AAS82572;BAB14375;BAG57581;CAD26885;DAA05333;DAA05334;NP_079146;NP_079446;Q70Z35 Hs.591867 1778948 D8S493 6230420N16Rik;DEP.2;DEPDC2;P-REX2;PPP1R129 DEP domain containing 2;DEP domain-containing protein 2;OTTHUMP00000226629;PtdIns(3,4,5)-dependent Rac exchanger 2;phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein protein-coding HGNC:22950 13135 612139 VALIDATED 1320501 PRG3 proteoglycan 3 ENCODES a protein that exhibits carbohydrate binding (inferred); INVOLVED IN basophil activation; histamine biosynthetic process; leukotriene biosynthetic process; INTERACTS WITH arsenous acid; diarsenic trioxide; iron atom 11 11 11 q12 54500834 54505212 - 57144242 57148623 - 57376769 57381150 - 1580863;6480464 10318872;11170744;12477932;12975309;15489334;17136616;17308074;20379614;21048031;22412388 10394 Q9Y2Y8 ABBA01021470;AF132209;AF304354;AMYH02024843;AP000781;AY358930;BC069126;BC101613;BC113411;CH471076;NM_006093 AAD24471;AAG41952;AAH69126;AAI01614;AAI13412;AAQ89289;ADR82866;EAW73738;NP_006084;Q9Y2Y8 Hs.251386 1703354 SHGC-68609 MBP2;MBPH;MGC126662;MGC141971 OTTHUMP00000234773;eosinophil major basic protein homolog;prepro-MBPH;prepro-major basic protein homolog protein-coding ENSG00000156575 HGNC:9363 08434 606814 VALIDATED 737332 PRG2 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 11 q12 54511420 54514715 - 57154834 57171420 - 57387361 57390657 - 1580863;6480464;6907045 10357815;10491647;10698680;10913121;11170744;11222751;11278835;11319227;11445557;11546794;12149249;12176337;12202480;12370176;12393403;12421832;12477932;12534990;14500673;14988014;15489334;15647258;1565101;16169070;16940047;17082653;17136616;17223728;17308074;18029348;18476621;18720885;18852884;19014520;19039208;19398958;19626619;20237496;20849415;20977431;21139048;21906983;22412388;23033876;2323577;24112102;2501794;2584934;3171483;3199069;3410852;3422083;7508748;7524900;7526035;7531438;7539791;7685339;7727786;8137941;8507662;8547309;9736715;9748166 5553 P13727 ABBA01021470;AK312195;AMYH02024843;AP000781;BC005929;BQ445845;BX395670;CR450311;DQ846874;HC007226;M34462;M35670;M36805;NM_001243245;NM_002728;X14088;X65787;Y00809;Z26248 AAA35796;AAA35965;AAA36203;AAH05929;ABI63361;ABM84106;ABM87481;BAG35128;CAA32250;CAA46670;CAA68751;CAA81207;CAG29307;CBH19418;NP_001230174;NP_002719;P13727 Hs.512633 1672099;1737849;1846729 A005W41;D11S3454;D11S4608 BMPG;MBP;MBP1;MGC14537 OTTHUMP00000234774;OTTHUMP00000234775;OTTHUMP00000234776;bone marrow proteoglycan;bone-marrow proteoglycan;eosinophil granule major basic protein;eosinophil major basic protein;natural killer cell activator;proteoglycan 2 preproprotein;proteoglycan 2, bone marrow APPROVED protein-coding HGNC:9362 09283 269400;605601 REVIEWED 1350272 PRF1 perforin 1 (pore forming protein) The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 10 10 10 q22 65638863 65644316 - 72357104 72362531 - 70597348 70602775 - 1599929;1599935;1580863;6480464;6482802;6482798;6482805;6482824;6482803;6482801;6482808;6482809;6482811;6482812;6482817;6482822;6482795;6482788;6482789;6482814;6482815;6482818;6482810;6482806;6482807;6482819;6482820;6482790;6907045;7240710;8554872;8699517 10886554;11179007;12060139;17622272;19651871;19680139;19785028;20019066;20049711;20523897;20537642;20708278;20921521;21157294;21426642;21525386;21542827;21619669;21906646;21908734;22001684;22021194;22250087;22396645;22420317 10072525;10583959;10779745;11082062;11565555;11586066;11911826;12009596;12072512;12131187;12270380;12368910;12372421;12477932;12574394;12672182;12919092;14512315;14634500;14697980;14757862;14996347;15028722;1505959;15113754;15164054;15336785;15342365;15489334;15576364;15641052;15728124;15818305;15921391;15998831;16169070;16278825;16344560;16374518;16385451;16524880;16611250;16611257;16720836;16770700;16791263;16860143;16908262;16914553;16967044;17055354;17213580;17222571;17266056;17311987;17360532;17475905;17477373;17627755;17652853;17674359;17703412;17724145;17873118;18097852;18190960;18198357;18275349;18311812;18496551;18523274;18580471;18615597;18710388;18927437;19058215;19141320;19150377;19258923;19284501;19380804;19394279;19553259;19639728;19651491;19946888;20035050;20049450;20092789;20100010;20221423;20225066;20229057;20237496;20301617;20306696;20368273;20497195;20497254;20503287;20580434;20618609;20638125;21048031;21307295;21388427;21518502;21535078;21661365;21674762;21685908;21867635;21881043;21931672;21960590;22084442;22169516;22173634;22268729;22359105;22395607;22425625;22437823;22759804;22768097;22829880;23073042;23160464;23179144;23216954;23377437;23443029;23528102;23592409;23853583;2395434;24157130;2420467;2425429;24309606;2480391;2592021;3261391;3419519;8676885;8770355;9557729;9671507 5551 P14222 AB209604;ABBA01019631;AK312754;AL355344;AMYH02023291;BC047695;BC063043;BQ051559;BQ654088;CH471083;DA816891;DA941244;FJ555237;L40557;M28393;M31951;NG_009615;NM_001083116;NM_005041;X13224 AAA60065;AAA60167;AAA63618;AAH47695;AAH63043;ACU25794;BAD92841;BAG35621;CAA31612;EAW54407;NP_001076585;NP_005032;P14222 Hs.2200 1667954;5021602;5038545 G29802;RH78918;STS-L40557 FLH2;HPLH2;MGC65093;P1;PFN1;PFP OTTHUMP00000019759;cytolysin;lymphocyte pore forming protein;lymphocyte pore-forming protein;perforin-1 APPROVED protein-coding ENSG00000180644 HGNC:9360 01362 170280;603553;605027 REVIEWED 1319063 PRG4 proteoglycan 4 The protein encoded by this gene is a large proteoglycan specifically synthesized by chondrocytes located at the surface of articular cartilage, and also by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q25-q31 159376110 159394394 + 186265405 186283688 + 186296273 186314562 + 1580712;1580863;6480464;7240710;8699517;8554872 16429407 10545950;10743795;11124536;12475643;12783322;14702039;14976050;15302935;15710563;16000300;16335952;16344560;16710414;17308074;17343281;17404241;17474147;18512776;18769058;19058183;19900364;20237496;20443780;20467438;20800603;21565623;21647956;21955422;22073377;22490392;22678705;22865664;22930755;23174700;23599181;24406099;8185311;9550484;9920774 10216 E9PLR3;J3KP74;Q92954 ABBA01027705;AK057197;AK131434;AK297718;AK301343;AK301487;AK308235;AL133553;AMYH02002311;AY653037;AY653038;CH471067;DA977744;DC295855;DC404857;KF455089;NG_008248;NM_001127708;NM_001127709;NM_001127710;NM_005807;U70136;XM_005244822;XM_006711108 AAB09089;AAT74745;AAT74746;BAD18580;BAG51882;BAG62891;BAH12654;BAH13495;EAW91201;EAW91202;NP_001121180;NP_001121181;NP_001121182;NP_005798;Q92954;XP_005244879;XP_006711171 Hs.647723 1658922;1681877;1725665 G31461;G62041;RH80846 CACP;FLJ32635;HAPO;JCAP;MSF;SZP;bG174L6.2 OTTHUMP00000033580;OTTHUMP00000228757;OTTHUMP00000228758;articular superficial zone protein;bG174L6.2 (MSF: megakaryocyte stimulating factor );lubricin;megakaryocyte stimulating factor;megakaryocyte-stimulating factor;superficial zone proteoglycan APPROVED protein-coding ENSG00000116690 HGNC:9364 05047 208250;604283 REVIEWED 1343411 PRH1 proline-rich protein HaeIII subfamily 1 FOUND IN extracellular space (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,2',5,5'-tetrachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 p13.2 16181881 16466619 - 11033560 11036874 - 10880961 10884275 - 1580863;6480464 12477932;17207965;18037651;20379614;21697133;22190937;2993301;3009472;803013 5554 F1T0A8;P02810 AB593029;ABBA01067808;AC006518;AC018630;AC134349;AMYH02026029;BC031043;BC064553;BC128192;BC133676;BI772091;BM476484;BU543118;CH471094;K03203;M13057;NM_001291314;NM_001291315;NM_006250 AAA60184;AAA98807;AAI28193;AAI33677;ADQ32609;BAJ83983;EAW96214;EAW96215;EAW96216;EAW96217;NP_001278243;NP_001278244;NP_006241 Hs.656965 1644652;1652619;1653074;1656276;1670804;1682247;1688666;1699744;1704224;1725899;1725929;1726083;1733222;1733612;1736192;1771287;2106687;2115363;2117195;2122241;2123322;2123514;2127023;2129410;2170018;2183380;2218814;2218816;2218818 D12S1123;D12S1137E;D12S1409;D12S841;D12S936;G41794;G62224;G62236;G62373;RH103478;RH41834;RH46058;RH68584;RH78796;RH79615;RH92305;SGC33675;SHGC-35333;SHGC-35334;SHGC-35693;SHGC-83138;STS-M13057;TAS2R14__5197;TAS2R44__5206;TAS2R49__5209;TAS2R50__5211;WI-11709;WI-17064;WI-21551 MGC74956;Pa protein-coding ENSG00000231887 HGNC:9366 01349 168730 VALIDATED 6481074 PRICKLE2-AS2 PRICKLE2 antisense RNA 2 3 3 64089146 64092034 + 64103470 64106358 + 100874242 ABBA01024311;AC092040;AI419805;AMYH02006953;BX110661;HG495734;NR_046701 Hs.668874 RP11-129B22.4 APPROVED ncrna HGNC:40917 VALIDATED 1315504 PRICKLE2 prickle homolog 2 (Drosophila) This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011] 3 3 3 p14.1 64096295 64227889 - 64079526 64253859 - 64093850 64268180 - 1580863;6480464;6907045;8699517;7240710;8554872 11076863;11230166;11256614;12477932;12525887;14702039;15489334;15489336;16381901;17411337;19303062;21139048;21832049;22037766;23000965;23382691;23711981;23870195 166336 C9JY03;H3BNU0;H3BRB9;Q7Z3G6 ABBA01024311;AC092040;AC103557;AC136275;AK055479;AK093899;AK127113;AK127839;AL833539;AMYH02006953;BC040867;BC119002;BX537915;BX647797;BX649125;CH471055;CR936678;NG_031930;NM_198859;XM_005264910;XM_005264911;XM_006713006;XM_006713007 AAI19003;CAD97898;CAL37665;CAL38278;EAW65428;EAW65429;NP_942559;Q7Z3G6;XP_005264967;XP_005264968;XP_006713069;XP_006713070 Hs.148105 1341302;1651976;1680517;1714649;1726733;1758891;1857207;2119341;2119417;2127031;2182699;7186390 D3S1287;D3S2854E;D3S4182;G62754;RH119989;RH16200;RH68795;RH92155;SGC34756;SHGC-153051;SHGC-35214 DKFZp686D143;DKFZp686H1748;DKFZp686M031;EPM5 OTTHUMP00000213482;prickle-like 2;prickle-like protein 2 APPROVED protein-coding ENSG00000163637 HGNC:20340 16342 608501;613832 REVIEWED 6481076 PRICKLE2-AS3 PRICKLE2 antisense RNA 3 3 3 64173220 64187237 + 64187544 64201561 + 14702039;23382691 100874243 ABBA01024311;AC092040;AK056491;AMYH02006953;HG495735;NR_046702 Hs.670840 1726733;5015619;5016478;5022200;5022651;5024039;5037552;5109281 D11S2921;D11S3114;D16S325;D1S1425;D8S2279;G62754;GDB:434012;L18426 RP11-129B22.7 APPROVED ncrna ENSG00000226017 HGNC:40918 VALIDATED 1350042 PRICKLE3 prickle homolog 3 (Drosophila) LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. [provided by RefSeq, Jul 2008] X X X p11.23 52621593 52632463 + 49031546 49042981 - 49175197 49186323 - 1580863;6480464 12477932;15302935;15489334;17081983;17474147;20211142;20360068;21890473;21906983;23443559;9344658 4007 B7Z6S4;F5H4N2;H0Y413;H7BZP7;O43900 ABBA01046131;ABBA01046132;ABBA01046133;AC232271;AF196779;AJ011654;AK299407;AK300866;AK303200;AK303308;AK314788;AMYH02039323;BC002468;BC016856;BT007423;CH471224;CR457211;NG_017135;NM_006150;U93305;XM_005272605 AAB92357;AAH02468;AAH16856;AAP36091;ABM82400;ABM85588;BAG37320;BAH13026;BAH13360;BAH13918;BAH13938;CAA09726;CAG33492;EAW50686;EAW50687;EAW50688;NP_006141;O43900;XP_005272662 Hs.732712 1341375;2142085 D1S2714;DXS9785 LMO-6;LMO6 LIM domain only protein 6;OTTHUMP00000025827;OTTHUMP00000025829;OTTHUMP00000025830;prickle-like protein 3;triple LIM domain protein 6 APPROVED protein-coding ENSG00000012211 HGNC:6645 02120 300111 REVIEWED 1347495 PRICKLE4 prickle homolog 4 (Drosophila) C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008] 6 6 6 p21.31 43301829 43308440 + 41748500 41755110 + 41780762 41787372 + 12477932;14574404;14702039;15489334;15702247;16341674;16344560;20877624;7923143 29964 F8WDY8;G8JLD6;Q2TBC4 ABBA01050747;AL365205;AMYH02013610;BC110458;BC110459;CH471081;DA875485;DA917216;DA957684;NM_013397 AAI10460;EAX04061;EAX04062;EAX04063;EAX04064;NP_037529;Q2TBC4 Hs.715653 1803242;1804428;1804538;1814456;1828122;1828744;1831916;1840098;1841662;1845884;1980038;1980040;1980042;1980044;1980046;1980048;1980050;1980052;1980054;1980056;1980058;1980060;1980062;1980064;1980066;1980068;1980070;1980072;1980074;1980076;1980078;1980080;1980082;1980084;1980086;1980088;1980090;1980092;1980094;1980096;1980098;1980100;1980102;1980104;1980106;1980108;1980110;1980112;1980114;2216262;2216264;2216266;2216268 ECD02514;ECD03138;ECD03198;ECD08257;ECD15184;ECD15499;ECD17096;ECD21233;ECD22028;ECD24161;REN60910;REN60911;REN60912;REN60913;REN60914;REN60915;REN60916;REN60917;REN60918;REN60919;REN60920;REN60921;REN60922;REN60923;REN60924;REN60925;REN60926;REN60927;REN60928;REN60929;REN60930;REN60931;REN60932;REN60933;REN60934;REN60935;REN60936;REN60937;REN60938;REN60939;REN60940;REN60941;REN60942;REN60943;REN60944;REN60945;REN60946;REN60947;REN60948;stSG635013;stSG635014;stSG635015;stSG635016 C6orf49;MGC120398;OBTP;OEBT;TOMM6 OTTHUMP00000174832;OTTHUMP00000190846;OTTHUMP00000199588;over-expressed breast tumor protein;overexpressed breast tumor protein;prickle-like protein 4;translocase of outer mitochondrial membrane 6 homolog APPROVED protein-coding ENSG00000124593 HGNC:16805 12884 611389 VALIDATED 1348091 PRIM1 primase, DNA, polypeptide 1 (49kDa) The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008] 12 12 12 q13 56779329 56800102 - 57125364 57146146 - 56731580 56752362 - 1580863;6480464;6907045;8554872 10441007;10504261;11473323;11917009;12393188;12477932;15489334;16169070;17035231;19615732;19946888;20030400;21139048;21145461;21890473;21906983;21963094;22267201;22505724;22593576;22678362;22939629;22990118;23000965;23891004;24816145;6693436;8026492;8125298;8530050;9268648;9705292;9822671 5557 F8VNY2;F8VSB2;H0YIP2;P49642 AA761682;ABBA01008435;ABBA01008436;AC117378;AK223391;AK314866;AMYH02026575;BC005266;BU167590;CD686660;NM_000946;U89689;X74330 AAC51726;AAH05266;ABW03563;ABW03872;BAD97111;BAG37381;CAA52377;NP_000937;P49642 Hs.534339 2180718 RH70897 MGC12308;p49 DNA primase 1;DNA primase 49 kDa subunit;DNA primase small subunit;DNA primase subunit 48;OTTHUMP00000242661;OTTHUMP00000242832;primase p49 subunit;primase polypeptide 1, 49kDa;primase, polypeptide 1, 49kda APPROVED protein-coding ENSG00000198056 HGNC:9369 08899 176635 REVIEWED 6770069 PRICKLE2-AS1 PRICKLE2 antisense RNA 1 ASSOCIATED WITH EPILEPSY, PROGRESSIVE MYOCLONIC 5 (inferred) 3 3 64053640 64088807 + 64067964 64103131 + 8554872 19303062 100652759 ABBA01024311;ABBA01024312;AC092040;AL832189;AMYH02006951;AMYH02006952;AMYH02006953;HG495730;NR_045697 Hs.731187 1680517 RH92155 RP11-129B22.1 APPROVED ncrna ENSG00000241111 HGNC:40916 VALIDATED 1346350 PRH2 proline-rich protein HaeIII subfamily 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH acetylsalicylic acid; 17alpha-ethynylestradiol (ortholog); 2,2',5,5'-tetrachlorobiphenyl (ortholog) 12 12 12 p13.2 16229857 16235467 + 11081834 11087444 + 10929235 10934845 + 1580863;6480464;8554872 10627138;10858503;12477932;15489334;15693058;16203048;2993301;3009472;3196309;3687941;3710693;4053693;438215;7228490;7380845;7390979 5555 P02810;Q68D45 ABBA01067808;AC006518;AMYH02026029;BC095488;BC136499;BC141916;BX538206;BX538207;BX641094;BX647085;BX647155;BX647156;BX648436;BX648656;BX648871;BX648901;CH471094;CR749583;K03202;M13058;NM_001110213;NM_005042 AAA60183;AAA98808;AAH95488;AAI36500;AAI41917;CAE46044;CAH18378;EAW96219;EAW96220;EAW96221;NP_001103683;NP_005033;P02810 Hs.408153 1699744;2123514 RH103478;SHGC-35333 DKFZp686B01256;DKFZp686F14256;DKFZp686I11251;DKFZp686J06255;DKFZp686L01253;DKFZp686L16244;DKFZp686M04243;DKFZp686N24248;PIF-S;PRH1;PRP-1/PRP-2;Pr;db-s;pa;pr1/Pr2 OTTHUMP00000239038;OTTHUMP00000239039;acidic salivary proline-rich protein, HaeIII type, 2;parotid acidic protein;parotid double-band protein;parotid isoelectric focusing variant protein;parotid proline-rich protein 1/2;protein C;salivary acidic proline-rich phosphoprotein 1/2 protein-coding HGNC:9367 01350 168790 VALIDATED 1346789 PRICKLE1 prickle homolog 1 (Drosophila) This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009] 12 12 12 q12 41653996 41785497 - 42852140 42983572 - 42458338 42589770 - 1580863;2293492;6480464;6907045;7240710;8554872;8699517 17226800 12477932;12525887;12941693;14645515;14702039;15009665;15146197;15489334;16344560;16417580;16764822;17030191;17411337;17709376;18922795;18976727;19252133;19379695;19834535;20301774;20445134;20842693;21276947;21901791;22037766;22589738;23000965;24312498 144165 B3KVG3;B3KVG6;F8VUG8;F8W1J1;F8W1Q8;Q96MT3 ABBA01031406;ABBA01031407;ABBA01031408;ABBA01031409;ABBA01031410;AC079600;AC079601;AF399844;AF543759;AF543760;AK056189;AK056499;AK122877;AK122881;AMYH02026361;AMYH02026362;AMYH02026363;AMYH02026364;BC042722;BC114939;BC114940;BE858932;CH471111;CN390789;DA321918;DA413584;NG_012965;NM_001144881;NM_001144882;NM_001144883;NM_153026 AAI14940;AAI14941;AAQ03035;AAQ11824;AAQ11825;BAB71116;BAB71198;BAG53775;BAG53778;EAW57854;EAW57855;NP_001138353;NP_001138354;NP_001138355;NP_694571;Q96MT3 Hs.524348;Hs.720221 1652093;1673564;1713337;1778844;2106573;2111326;2120909;2142719;2174853;2177121;5022651;5022697 D11S2921;D12S1130E;D12S1781;PRICKLE1;PRICKLE1__5577;RH120662;RH45246;RH65600;RH78229;STS-AA010491;STS-N30055;WI-15796 EPM1B;FLJ31627;FLJ31937;MGC138902;MGC138903;RILP OTTHUMP00000241122;OTTHUMP00000241123;OTTHUMP00000241124;OTTHUMP00000241125;REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein;REST/NRSF-interacting LIM domain protein 1;prickle-like 1;prickle-like protein 1 APPROVED protein-coding ENSG00000139174 HGNC:17019 16341 608500;612437 REVIEWED 1315672 PRIMA1 proline rich membrane anchor 1 The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008] 14 14 14 q32.12 74238652 74308549 - 94184644 94254766 - 93718298 93788456 - 1580863;6480464;8554872 11804574;14622217;16429581;16489065;19368807;20147288;20471375;22750213;22754043;23545415;8889548 145270 Q86XR5 ABBA01030428;ABBA01030429;AL132642;AL157858;AMYH02029774;AMYH02029775;AY225516;AY225517;BU726715;CH471061;NG_009069;NM_178013;XM_006720044;XM_006725162;XR_429292;XR_430712 AAI56511;AAI72508;AAO74853;AAO74854;EAW81532;EAW81533;EAW81534;NP_821092;Q86XR5;XP_006720107;XP_006725225 Hs.432401 1760895;1777532;1783016;2126022;2219558 G09284;PRIMA1__5578;SHGC-112367;SHGC-144590;SHGC-52824 OTTHUMP00000180666;OTTHUMP00000233440;PRIMA;acetylcholinesterase membrane anchor precursor PRiMA;proline-rich membrane anchor 1 APPROVED protein-coding ENSG00000175785 HGNC:18319 17907 613851 REVIEWED 2293806 PRINS psoriasis associated non-protein coding RNA induced by stress 10 10 p12.1 24226585 24236918 + 24536051 24544975 + 14702039;15855153;20377629;21750967 100169750 AC063961;AK022045;NR_023388 Hs.731140 5015619;5037552 D11S3114;D8S2279 NCRNA00074 APPROVED ncrna HGNC:34235 1353751 PRIM2 primase, DNA, polypeptide 2 (58kDa) This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014] 6 6 6 p12-p11.1 58845527 58907120 + 57182415 57512702 + 57314805 57646850 + 1580863;6480464;6907045;8554872 10433721;10504261;11939784;12220650;12477932;14574404;15489334;15592455;16307020;17893144;19305001;19322201;19471022;19615732;20379614;20643958;20675616;21139048;21346410;21890473;21906983;21963094;21987572;22437878;22593576;22678362;22863883;22939629;23455924;23891004;24654937;6693436;8026492;8125298;8530050;9116489;9563011;9705292 5558 P49643 ABBA01050475;ABBA01050476;ABBA01050477;ABBA01050478;ABBA01050479;ABBA01050480;ABBA01050481;AC244258;AC244606;AC245511;AK223287;AK291915;AL121975;AL137184;AL162579;BC017833;BC064931;BI547222;CH471081;FO680682;NG_034261;NM_000947;NM_001282487;NM_001282488;X74331 AAH17833;AAH64931;ABZ92530;BAF84604;CAA52378;EAX04480;EAX04481;EAX04482;EAX04483;NP_000938;NP_001269416;NP_001269417;P49643 Hs.654580 1681714;1684317;1689720;1693500;1713899;1715795;1716063;2133053;5119187;5123780 D6S1498;D6S2137;RH119346;RH119380;RH120995;RH46723;RH65310;RH70898;SHGC-31574;SHGC-58337 MGC75142;PRIM2A;p58 DNA primase 58 kDa subunit;DNA primase large subunit;DNA primase subunit p58;OTTHUMP00000017818;dJ422B11.1.1;polypeptide 2A, p58;primase polypeptide 2A, 58kDa;primase, polypeptide 2A (58kD);primase, polypeptide 2a, 58kda APPROVED protein-coding ENSG00000146143 HGNC:9370 08900 176636 REVIEWED 1605846 PRIMPOL primase and polymerase (DNA-directed) ENCODES a protein that exhibits chromatin binding; DNA primase activity; DNA-directed DNA polymerase activity; INVOLVED IN mitochondrial DNA replication; replication fork processing; response to UV; ASSOCIATED WITH Autosomal dominant inheritance (inferred); MYOPIA 22, AUTOSOMAL DOMINANT (inferred); Visual impairment (inferred); FOUND IN mitochondrial matrix; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; calcitriol; cyclosporin A 4 4 4 q35.1 182899431 182944944 + 185570767 185616112 + 184649613 184694958 + 6480464;8699517;8554872 12477932;14702039;15342556;15489334;16027112;19773279;23579484;24207056;24267451;24682820 201973 D3DP56;D6R908;D6R971;D6RAH5;H0Y9N8;Q96LW4 ABBA01070517;AC079257;AK057729;AK307317;AMYH02010651;AMYH02010652;BC018930;BC047467;BC064600;BP245596;BX647575;CH471056;KF459591;NM_001300767;NM_001300768;NM_152683;XM_005262810;XM_005262811;XM_005262812;XM_005262813;XM_005262814;XM_005262815;XM_005262816;XM_005262817;XM_005262818;XM_006714135 AAH64600;BAB71553;CAI46079;EAX04667;EAX04668;EAX04669;EAX04670;EAX04671;EAX04672;NP_001287696;NP_001287697;NP_689896;Q96LW4;XP_005262867;XP_005262868;XP_005262869;XP_005262870;XP_005262871;XP_005262872;XP_005262873;XP_005262874;XP_005262875;XP_006714198 Hs.481307 1648946;1657223;1675321;1690722;1690832;1715807;1771511;2117577;2121666;2127567;2163671;2176920;5093946 D4S2666;D4S591;G33016;RH119600;RH36537;RH67709;RH76703;RH92480;SHGC-35919;SHGC-50302;SHGC-50366;SHGC-50594;SHGC-68220 CCDC111;FLJ33167;MYP22 DNA-directed primase/polymerase protein;OTTHUMP00000218321;OTTHUMP00000218322;OTTHUMP00000218323;OTTHUMP00000218325;coiled-coil domain containing 111;coiled-coil domain-containing protein 111;hPrimpol1 APPROVED protein-coding ENSG00000164306 HGNC:26575 08742 615421 VALIDATED 735402 PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008] 12 12 12 q24.1-q24.3 119738816 119752482 + 120105669 120119429 + 119667864 119681624 + 69937;1600678;1600679;1580863;6480464;6484113;6907045 12829246;15509864;8557660 10698692;10760274;12477932;12958172;14615481;14651849;14702039;14729328;14742438;14985344;14985505;15028725;15058305;15122253;15289653;15489334;15694368;15769985;15886229;15896711;16054041;16169070;16306228;16405649;16505254;16516166;16541075;16600998;16624523;16873412;16880506;16949049;16953221;17012231;17028174;17054914;17097050;17353931;17459875;17513605;17669398;17711846;17849173;18006475;18006825;18029348;18079111;18184747;18184930;18247380;18250161;18258605;18328803;18403135;18436530;18439900;18449856;18480843;18551130;18614968;18617528;18624398;18715874;18729810;18836454;18996102;19037093;19050047;19071085;19112161;19211918;19225536;19347029;19477172;19584313;19592618;19654324;19720090;19723334;19843515;19844168;19896469;19911004;19913121;19948975;19958286;19963029;20018878;20019839;20083895;20103737;20107043;20177150;20190568;20196784;20231899;20334581;20392842;20534540;20534808;20538596;20562859;20628086;20668229;20682687;20797423;20810907;20957377;21042744;21072212;21088205;21139048;21232561;21271224;21334384;21344388;21460634;21554950;21570709;21573174;21619869;21651489;21670147;21824431;21832049;21859551;21873433;21890473;21892142;21900206;21907923;21988832;22001850;22029423;22105511;22323564;22363791;22435535;22505724;22897928;22939629;23266705;23396401;23455922;23515442;24602453;8621499;8626596;8663446;9224708;9305909;9575201 5564 F5H2X8;F5H4Y8;F5H610;Q9Y478 ABBA01020076;AC002563;AF022116;AJ224515;AK127820;AK301165;AK312495;AMYH02027350;BC001007;BC001056;BC001823;BC017671;BC018818;BU539177;BX537486;CH471054;NM_006253;U83994;U87276;XM_005253909;Y12556 AAB71326;AAC98897;AAD00625;AAD09237;AAH01007;AAH01056;AAH01823;AAH17671;BAG35397;BAG62754;CAA12024;CAA73146;EAW98151;EAW98152;EAW98153;EAW98154;NP_006244;Q9Y478;XP_005253966 Hs.741184 1651327;1660603;1678381;1694984;1707002;1770652;1770654;2117522;5022200 A001W18;G19710;G44705;L18426;RH48906;RH98832;SHGC-81002;WI-13962;WI-19637 AMPK;AMPKb;HAMPKb;MGC17785 5'-AMP-activated protein kinase beta-1 subunit;5'-AMP-activated protein kinase subunit beta-1;AMP-activated protein kinase beta subunit;AMPK beta -1 chain;AMPK beta 1;AMPK subunit beta-1;OTTHUMP00000239813;OTTHUMP00000239814;protein kinase, AMP-activated, noncatalytic, beta-1 APPROVED protein-coding ENSG00000111725 HGNC:9378 04116 602740 REVIEWED 730888 PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008] 1 1 1 p31 55395857 55465885 + 57110990 57181008 + 56645317 56715335 + 1580863;1625266;1600678;1600679;1302556;1300048;6480464;6484113;6907045;8554872 12511592;12829246;15509864;16567511 10642499;10698692;10760274;11052978;11171059;11257506;11389854;11500364;11797013;12067722;12091379;12391032;12413941;12427743;12444247;12456889;12477932;12519745;12663462;12740371;12788940;12847291;12853467;12941758;1322130;1365882;14532170;14613924;14651849;14709557;14729328;14742438;14985344;14985505;15024086;15058305;15060529;15231718;15297373;1536860;15371448;15489334;15572372;15640157;16054041;16054095;16054096;16275868;16344560;16483872;16505254;16518831;16598851;16624523;16670154;16710414;16801347;16984726;17179156;17950019;18029386;18195011;18439900;18614941;18674809;18801964;18836454;18974883;18996102;19170765;19434633;19440859;19470831;19502591;19528236;19574280;19616115;19720090;19720831;19723084;19728147;19836452;19913121;19948975;20124121;20167927;20217115;20392842;20558612;20562859;20602615;20628086;20647423;20682687;20821366;20876741;21139048;21209024;21344388;21432774;21543851;21651489;21673972;21825219;21963094;22137581;22212710;22286170;22305490;22728651;22897928;22939624;23000302;23293026;23396962;23476055;23723070;24722188;24816145;2900138;7959015;7988703;8889548;9148944;9224708 5563 AAB32732;P54646 ABBA01074678;ABBA01074679;AC099789;AI732856;AK314011;AL035705;AL596521;AL710110;AMYH02001078;AMYH02001079;AMYH02001080;BC043195;BC069680;BC069740;BC069823;BM979925;CB985850;CF552084;CH471059;DA710012;EF056019;FJ200485;FJ200486;KF495958;NM_006252;U06454 AAA64745;AAB32732;AAH69680;AAH69740;AAH69823;ABK30810;ACO54882;ACO54883;BAG36722;EAX06650;NP_006243;P54646 Hs.437039 1342337;1695610;1744857;1781496;1796574;1848023;2113688;2141595;2153691;2159951;2183626 D1S2056E;D1S2084;D1S2690;GDB:573976;PRKAA2;PRKAA2_1075;SHGC-141488;SHGC-35382;SHGC-68634;SHGC-74882;SHGC-74886 AMPK;AMPK2;AMPKa2 5'-AMP-activated protein kinase catalytic subunit alpha-2;5'-AMP-activated protein kinase, catalytic alpha-2 chain;ACACA kinase;AMP-activated protein kinase alpha-2 subunit variant 2;AMP-activated protein kinase alpha-2 subunit variant 3;AMPK subunit alpha-2;AMPK-alpha-2 chain;HMGCR kinase;OTTHUMP00000009993;PRKAA;acetyl-CoA carboxylase kinase;hydroxymethylglutaryl-CoA reductase kinase APPROVED protein-coding ENSG00000162409 HGNC:9377 02735 600497 VALIDATED 735943 PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] 1 1 1 q21.1 122340718 122358162 + 146626685 146644168 - 147155106 147172589 - 69937;1600678;1600679;1580863;6480464;6907045;8554872 12829246;15509864;8557660 10698692;11257506;11752456;12433937;12477932;12490143;14651849;14702039;15058305;15060529;15489334;16054041;16306228;16341674;16344560;16505254;16710414;16712791;17353931;17851531;18029386;18836454;18996102;19616115;19720090;19836452;19913121;19948975;20392842;20534808;20562859;20628086;20682687;21139048;21344388;21651489;21988832;22305490;22505724;22897928;22935535;23455922;23552691;24722188;8621499;8626596;8889548;9224708;9575201 5565 O43741 ABBA01004398;AC241584;AF504543;AI026131;AI638769;AJ224538;AK023717;AK292820;AK294863;AK304069;AK310982;AK316005;AK316183;AL037763;AL356378;AU118301;AV646012;AV660341;BC053610;BM563523;BM724633;BM769516;BU166852;BU619639;BX478507;CA311731;CB111633;CH471223;DA698245;KJ534919;KJ535024;KJ535025;NM_005399;NR_103870;NR_103871 AAH53610;AAM74153;ADR82700;AHW56559;AHW56663;AHW56664;BAF85509;BAG57967;BAG64976;BAH14376;BAH14554;CAA12030;CAH72644;EAW50945;NP_005390;O43741 Hs.50732 1672577;1798014;1847895;1852367;2123905;2156535;2185423 A006T33;D1S3545;G16292;PRKAB2_2222;RH64681;RH66499;WI-22653 MGC61468 5'-AMP-activated protein kinase subunit beta-2;5'-AMP-activated protein kinase, beta-2 subunit;AMP-activated protein kinase beta 2 non-catalytic subunit;AMPK beta 2;AMPK beta-2 chain;AMPK subunit beta-2;OTTHUMP00000015910 APPROVED protein-coding ENSG00000131791 HGNC:9379 04117 602741 REVIEWED 1345258 PRKACG protein kinase, cAMP-dependent, catalytic, gamma Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma form of its catalytic subunit. The gene is intronless and is thought to be a retrotransposon derived from the gene for the alpha form of the PKA catalytic subunit. [provided by RefSeq, Jul 2008] 9 9 9 q13 42222656 42224165 - 71627426 71635600 - 69012529 69014123 - 1580863;2312475;6480464;6484113;6907045;8554872 14715913 10830164;11438671;12361948;12477932;12626323;12721358;12842892;12972513;1339328;15039079;15489334;15629779;15632203;16407073;18836454;19100722;19383776;19483721;19711044;1978848;19895210;20392842;20402410;20433920;21651489;2165385;21745501;21963094;21988832;22114277;2342480;23455922;7688126;7946090;9151826;9278385;9540970;9598317;9671211;9730685;9837753 5568 P22612 AJ001597;AL162730;AMYH02020927;BC039888;CH471089;DQ667175;NM_002732 AAH39888;ABG25920;ABM81690;ABM84853;CAA04863;EAW62472;NP_002723;P22612 Hs.158029 1658063;2140852 G29882;RH69128 KAPG;PKACg OTTHUMP00000021422;PKA C-gamma;cAMP-dependent protein kinase catalytic subunit gamma;serine(threonine) protein kinase APPROVED protein-coding ENSG00000165059 HGNC:9382 01483 176893 REVIEWED 6770814 PRKAG2-AS1 PRKAG2 antisense RNA 1 7 7 7 146131750 146133931 + 151574127 151576308 + 151877042 151879223 + 12477932 100505483 ABBA01035143;AC074257;AC093583;AMYH02017078;BC031308;BC131560;CA419137;HG500745;NR_038926 Hs.649054 1678687;1686905 RH79622;RH94262 RP11-796I2.2 APPROVED ncrna HGNC:40468 VALIDATED 732865 PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 5 5 5 p12 40648066 40686889 - 40759481 40798297 - 40759379 40798195 - 69937;1580863;1600678;1600679;1300048;2316808;6480464;6484544;6484534;6484540;6484539;6484543;6484113;6484545;6484541;6484542;5685669;6907045 12829246;15509864;19162361;19486896;20054491;20421294;20622004;21548839;21595935;21768291;22231922;22562547;8557660 10698692;10760274;10862786;11042152;11052978;11165240;11171059;11500364;11546797;11903059;11913976;11971957;11997383;12091379;12194824;12368907;12391032;12477932;12788940;12791703;12847291;12853467;12869384;12890675;1322130;14557259;14651849;14702039;14709557;14970221;14976552;14985344;14985505;15024086;15261145;15485651;15489334;16054041;16054095;16306228;16344560;16405649;16466905;16806233;17028174;17088252;17584647;18195011;18276112;18303014;18347656;18359290;18403135;18439900;18480843;18614941;18663353;18674809;18781797;18801964;18836454;18950855;18976975;18996102;19020741;19049348;19050283;19138981;19197243;19211918;19322201;19442239;19491292;19502591;19556893;19616115;19720090;19723093;19723094;19723101;19723105;19728147;19887561;19913121;19923924;19948975;19966861;20080969;20103647;20167678;20170185;20217115;20368287;20368732;20392842;20462511;20538596;20562859;20564492;20602615;20628086;20660302;20682687;20821366;20861072;20876741;21048031;21072212;21079763;21088205;21139048;21209024;21232561;21344388;21416543;21432774;21474997;21651489;21670147;21678424;21728993;21775054;21807092;21892142;21906983;21909354;21963094;21987572;21988832;21994947;22007913;22021095;22037551;22065577;22212710;22363791;22378745;22406815;22419736;22434430;22462548;22480519;22553202;22564965;22607554;22674476;22688514;22815988;22833096;22869372;22897928;22935535;22939624;22939629;22988252;23000302;23022380;23171948;23221389;23228943;23291726;23306156;23324179;23367447;23376776;23417417;23418352;23455922;23463002;23475945;23506848;23589839;23592276;23602568;23625915;23648710;23671028;23677989;23712032;23716691;23723070;23728343;23778007;23800577;23819460;23861218;23878245;23883584;23899558;23904275;23963659;23982477;24018441;24047437;24055274;24072697;24080159;24095280;24190973;24371122;24441100;24491542;24654937;24722188;24797263;24816145;2900138;7907095;8094892;8163463;8626596;8663446;8910387;9091312;9224708;9710607;9845345;9857077 5562 Q13131;Q96E92 AB022017;ABBA01024223;ABBA01024224;AC008810;AF100763;AK024252;AK307546;AK312947;AMYH02011212;AMYH02011213;BC012622;BC037303;BC048980;BQ049192;BQ716041;BX494823;CD512588;CH471119;DB236105;NM_006251;NM_206907;U22456;XM_006714481;XM_006714482;Y12856 AAA64850;AAD43027;AAH12622;AAH37303;AAH48980;ADZ15583;BAA36547;BAG35788;CAA73361;EAW56000;EAW56001;NP_006242;NP_996790;Q13131;XP_006714544;XP_006714545 Hs.43322 1669290;2178628;2178630;2184497 RH18516;RH71041;SGC34175;STS-N23112 AMPK;AMPKa1;MGC33776;MGC57364 5'-AMP-activated protein kinase catalytic subunit alpha-1;5'-AMP-activated protein kinase, catalytic alpha-1 chain;ACACA kinase;AMP -activate kinase alpha 1 subunit;AMP-activated protein kinase, catalytic, alpha-1;AMPK alpha 1;AMPK subunit alpha-1;HMGCR kinase;OTTHUMP00000161795;OTTHUMP00000161796;acetyl-CoA carboxylase kinase;hydroxymethylglutaryl-CoA reductase kinase;tau-protein kinase PRKAA1 APPROVED protein-coding ENSG00000132356 HGNC:9376 04115 602739 REVIEWED 734389 PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 12 12 12 q12-q14 48190841 48207378 - 49396055 49413012 - 49002272 49018961 - 1600678;1600679;6480464;6484113;6907045;8554872 12829246;15509864 10698692;11445078;12477932;14651849;14702039;15058305;15489334;16054041;16306228;16344560;16712791;17028174;18079111;18403135;18439900;18480843;18836454;18996102;19052260;19211918;19615732;19616115;19720090;1978848;19913121;19946888;19948975;20392842;20402410;20562859;20602615;20628086;20682687;20800603;20821366;21072212;21139048;21232561;21344388;21651489;21666788;21670147;21890473;21892142;21906983;21963094;21987572;21988832;22363791;22456184;22897928;22935535;23000965;23383273;2342480;23455922;23479427;24356547;24722188;24797263;7688126;7946090;8557660;8621499;8626596;8663446;8889548;9151826;9224708;9278385;9598317;9671211;9730685 5571 F8VPF5;F8VQQ1;F8VRY2;F8VSH3;F8VSL2;F8VVA3;F8VYY9;F8VYZ8;F8VZX1;F8W046;H0YHF8;H0YIC9;P54619 ABBA01031498;AC011603;AK097606;AK293332;AK303276;AK307994;AK310250;AMYH02026431;BC000358;BG772337;BG772412;BI757340;BM667691;BM972308;BT007345;CB124830;CH471111;DB020277;NM_001206709;NM_001206710;NM_002733;XM_005269019;XM_005269020;XM_006719499;XM_006719500 AAH00358;AAP36009;BAC05117;BAG56848;BAG64356;EAW58032;EAW58033;NP_001193638;NP_001193639;NP_002724;P54619;XP_005269076;XP_005269077;XP_006719562;XP_006719563 Hs.530862 1648479;1667135;1669575;2217844;5017605 PRKAG1;PRKAG1_3169;RH11260;SHGC-33837;WI-19311 AMPKG;MGC8666 5'-AMP-activated protein kinase subunit gamma-1;5'-AMP-activated protein kinase, gamma-1 subunit;AMPK gamma-1 chain;AMPK gamma1;AMPK subunit gamma-1;OTTHUMP00000243707;OTTHUMP00000243708;OTTHUMP00000243709;OTTHUMP00000243712;OTTHUMP00000243713;OTTHUMP00000243714;OTTHUMP00000243716 APPROVED protein-coding ENSG00000181929 HGNC:9385 04118 602742 REVIEWED 1321558 PRKACB protein kinase, cAMP-dependent, catalytic, beta The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014] 1 1 1 p31.1 82787965 82948395 + 84543745 84704181 + 84078062 84238498 + 1580731;2312475;6480464;6484113;6907045;7327190;7327191 12150772;14715913;7769990;8548807 10830164;11076863;11172053;11589697;12420224;12477932;12682012;12798691;12842892;12972513;14702039;14744463;15489334;15489336;1551670;15629779;15723830;16381901;16407073;16710414;16889664;16949795;17549442;17594903;18499756;18836454;19100722;19383776;19483721;19573263;19711044;1978848;19895210;19965870;20033853;20086095;20093341;20379146;20392842;20402410;20433920;20564261;21139048;21423175;21651489;2165385;21745501;21890473;21906983;21963094;21988832;22113938;22114277;22779921;22863883;22939624;22939629;23001122;2342480;23455922;24294386;24816145;7684369;7688126;7946090;8662989;9151826;9278385;9540970;9636365;9671211;9730685;9837753 5567 B1APF6;B1APF7;B1APF8;B1APF9;B1APG0;B1APG1;B1APG2;B1APG3;B2RB89;B7ZA00;P22694 AA761973;AB209189;AB451239;AB451364;ABBA01045658;AF538872;AI445551;AK074904;AK091420;AK296482;AK304322;AK304375;AK314550;AK316115;AL050208;AL359504;AL450063;AMYH02001374;AMYH02001375;AMYH02001376;AY927364;AY927365;AY927366;AY927367;AY927368;BC016285;BC035058;BI598037;BM905428;BX369882;BX485407;BX537705;BX641026;BX647515;CH471097;CR936631;DA188681;DA228647;DC322547;DC418574;DQ667174;HY160843;M34181;NG_029728;NM_001242857;NM_001242858;NM_001242859;NM_001242860;NM_001242861;NM_001242862;NM_001300915;NM_001300916;NM_001300917;NM_002731;NM_182948;NM_207578;XM_005271015;XM_005271016;XM_005271017;XM_005271018;XM_005271019;XM_005271020;XM_005271021;XM_005271022;XM_005271023;XM_006710758 AAA60170;AAH16285;AAH35058;AAN16454;AAX19487;AAX19488;AAX19489;AAX19490;AAX19491;ABG25919;ACE87794;ACE87846;ACE87848;ACE87853;ACT64365;ACT64367;ACT64382;ACT64538;BAD92426;BAG37136;BAG52356;BAG59122;BAG65172;BAG65213;BAG70053;BAG70178;BAH14486;CAD97818;CAE46017;CAI56774;CAL37404;CAL38111;CAL38195;CAL38374;EAW73247;EAW73248;EAW73249;NP_001229786;NP_001229787;NP_001229788;NP_001229789;NP_001229790;NP_001229791;NP_001287844;NP_001287845;NP_001287846;NP_002722;NP_891993;NP_997461;P22694;XP_005271072;XP_005271073;XP_005271074;XP_005271075;XP_005271076;XP_005271077;XP_005271078;XP_005271079;XP_005271080;XP_006710821 Hs.487325 1656791;1666898;1688448;1693196;1693200;1739753;1745771;1751711;1768965;2115493;2128782;2143833;2160016;5015861;5037552;7185938 AL033549;AL033552;D10S16;D1S2252;D1S2503E;D8S2279;G15918;G31499;GDB:636113;RH69127;RH80405;SGC44473;SHGC-105735;SHGC-30370;SHGC-75073 DKFZp781I2452;MGC41879;MGC9320;PKACB OTTHUMP00000011663;OTTHUMP00000011664;OTTHUMP00000011665;OTTHUMP00000011666;OTTHUMP00000011667;OTTHUMP00000011668;OTTHUMP00000011669;OTTHUMP00000011670;OTTHUMP00000011671;OTTHUMP00000011672;OTTHUMP00000011673;OTTHUMP00000011674;PKA C-beta;cAMP-dependent protein kinase catalytic beta subunit isoform 4ab;cAMP-dependent protein kinase catalytic subunit beta;protein kinase A catalytic subunit beta APPROVED protein-coding ENSG00000142875 HGNC:9381 01482 176892 REVIEWED 1346463 PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family and encodes a protein with four cystathionine beta-synthase domains. Mutations in this gene have been associated with ventricular pre-excitation (Wolff-Parkinson-White syndrome), progressive conduction system disease and cardiac hypertrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 145810679 146131939 - 151253200 151574316 - 151556114 151877231 - 69937;70620;1580715;1580716;1580717;1580718;1580719;1600678;1600679;1580863;6480464;6907045;7240710;8554872;8699517 11748095;12829246;15509864;15611370;15877279;16275868;16487706;8557660;8621499 10698692;11112354;11257506;11371514;11407343;11445078;11827995;12015471;12397075;12477932;12546691;12690205;12716108;12853948;14519435;14651849;14702039;15060529;15489334;15673802;15766830;16054041;16115789;16344560;16806233;17207965;17255938;17431505;17483151;17990392;18029348;18033003;18158359;18195183;18403758;18439900;18996102;19322201;19533775;19720090;1978848;19808419;19862010;19913121;19948975;20005292;20022652;20031618;20031621;20301725;20379614;20381067;20383146;20392842;20561859;20562859;20602615;20622004;20628086;20682687;20821366;21305692;21344388;21409595;21813245;21906983;21963094;21987572;22897928;23034890;23115293;23222517;23263486;23455922;23778007;23788249;23810891;7657794;7688126;7946090;9151826;9208914;9224708;9278385;9671211;9730685;9847074 51422 C9JUG1;E9PGP6;F8WAY3;F8WDA1;F8WDB5;Q9UGJ0 AACC02000108;AB025580;ABBA01035143;ABBA01035144;ABBA01035145;ABBA01035146;ABBA01035147;ABBA01035148;ABBA01035149;ABBA01035150;ABBA01035151;AC006358;AC006966;AC074257;AC093583;AF087875;AI084919;AJ249976;AK001887;AK074675;AK092716;AK301123;AK307798;AK308116;AK314646;AMYH02017074;AMYH02017075;AMYH02017076;AMYH02017077;AMYH02017078;BC020540;BC068598;BM988346;BT007127;CH471173;CR933725;DA084454;DA123009;DA187928;DA697901;KF510996;NG_007486;NM_001040633;NM_016203;NM_024429;XM_005250002;XM_005250003;XM_005250004;XM_005250005;XM_005250006;XM_005250007;XM_005250009;XM_006716021 AAF03528;AAH20540;AAH68598;AAK00413;AAP35791;AAS02032;ADQ31995;BAA84695;BAA91962;BAC11129;BAH13414;CAB65116;CAI46256;EAL24516;EAW53983;EAW53984;NP_001035723;NP_057287;NP_077747;Q9UGJ0;XP_005250059;XP_005250060;XP_005250061;XP_005250062;XP_005250063;XP_005250064;XP_005250066;XP_006716084 Hs.647072 1299920;1339951;1655513;1666460;1668806;1670728;1678687;1686905;1700660;1708756;1724113;1725739;1766005;1779970;1779972;1787682;1849973;1849975;1858204;2114406;2124365;2143303;2184550;2187520;5020948;5037552;7187448 A005S32;A006W27;D7S1854;D7S3070;D7S505;D7S688;D8S2279;G20467;G35510;G62061;GDB:1317758;GDB:1318398;GDB:3754224;GDB:4585559;RH103953;RH119056;RH79622;RH94262;SGC32330;SHGC-149398;SHGC-154217;SHGC-154218;SHGC-156157;SHGC-81601;SHGC-8964;STS-D59484;STS-H64261 AAKG;AAKG2;CMH6;H91620p;WPWS 5'-AMP-activated protein kinase subunit gamma-2;AMPK gamma2;AMPK subunit gamma-2;OTTHUMP00000211953;OTTHUMP00000211954;OTTHUMP00000211955;OTTHUMP00000211956;hypothetical protein APPROVED protein-coding ENSG00000106617 HGNC:9386 04119 194200;261740;600858;602743 REVIEWED 1345941 PRKAR1AP protein kinase, cAMP-dependent, regulatory, type I, alpha pseudogene 1 1 1 p22.1 90837151 90840103 + 92590854 92591858 + 92125297 92126301 + 8468054 5574 ABBA01045554;AC104836;AMYH02001477;L20252;NG_003073 1773267;1848017 G15734;SHGC-75148 pseudo HGNC:9389 INFERRED 1344608 PRKACA protein kinase, cAMP-dependent, catalytic, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is a member of the Ser/Thr protein kinase family and is a catalytic subunit of cAMP-dependent protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14096777 14122833 - 14202500 14228559 - 14091688 14117747 - 1580713;1580714;1580675;1580730;1580863;2312475;6480464;6484113;6907045;7327190;7327191;8699517 10830164;12150772;12469130;14715913;15546918;16302972;7769990 10051666;10090741;10187789;10228048;10366608;10400690;10441130;10446213;10454575;10559944;10567342;10571231;10576742;10581150;10601328;10604473;10653665;10667577;10698939;10728420;10734119;10737616;10739259;10753751;10805756;10837251;10837486;10841548;10851246;10874031;10880354;10898738;10906071;10922374;10949026;10969067;10970852;10982398;11027313;11029056;11035810;11039908;11050185;11076968;11104762;11158204;11158305;11166179;11171059;11181181;11181701;11181841;11278415;11278469;11279195;11283605;11297520;11311121;11327722;11331285;11336675;11359875;11416140;11438671;11443111;11500364;11510412;11533025;11546661;11551945;11604405;11694504;11696326;11744745;11749387;11751901;11799117;11799244;11805122;11834733;11853558;11884598;11895474;11903055;11953308;11971957;11986331;11997388;11997508;12054501;12082111;12089143;12147701;12154078;12167624;12175859;12196520;12213813;12221128;12237306;12369791;12387894;12392720;12399457;12417592;12435421;12441002;12459461;12475942;12477932;12509440;12529267;12534294;12538592;12569367;12574161;12574812;12578970;12589790;12595241;12626323;12628924;12630910;12639913;12654918;12697024;12721358;12773393;1281154;12819195;12842892;12851456;12852856;12853467;12917345;12927815;12931191;12938160;12947093;12950172;12954600;12972513;1322130;1375229;1375933;1377674;1406653;14500710;14530262;14532276;14576165;14597563;14636580;14641008;14701748;14702039;14709557;14724137;14981079;14997482;15016832;15024086;15047863;15147202;15178447;15212956;15213298;15345747;15371306;15383279;1545828;15489334;15557340;15569306;15629779;15630084;15632203;15642694;15655353;15703181;15797222;15843433;15896703;15905176;15914039;15934135;15975931;16166624;16179339;16251902;16301320;16407073;16462731;16476742;1650365;16601239;16621795;16642035;16751804;16793902;1684878;16920702;16966355;17008315;17043752;17053039;1706595;17068197;17081983;17088250;17151273;17192257;17220478;17272822;17296605;17317104;17333334;17353931;17437719;17545677;17553808;17565987;17581860;17594903;17646929;17693412;17884635;17895239;17895245;17908236;17909264;17959673;17975022;18064650;18178622;18215420;18291109;18299387;18338250;18421013;18451138;18451148;18490653;18505929;18660489;18728186;18836454;18953413;19018281;19100722;19210988;19264843;19368997;19383776;19403523;19483721;19573263;19615732;19618297;19647741;19667065;19667072;19692500;19711044;19755416;1978848;19789307;19808666;19895210;19920112;19923321;19949837;19965870;20045463;20110267;20133937;20159975;20196770;20209159;20356841;20392842;20402410;20433920;20484458;20501673;2050683;20664056;20716686;20732331;20849292;20936779;20974683;21075212;2108025;21085490;21098703;21127069;21139048;2114109;21145461;2117608;21209912;21357689;21367856;21461565;21514275;21536683;2155236;21559296;21651489;2165385;21745501;2176601;21812984;21835884;21890473;21906983;21957496;21963094;22101235;22114277;22132070;221492;22272352;22340593;22360420;22363678;22384111;22433860;22452847;22479536;22504716;22553202;22561749;22609331;22669896;22728165;22750392;22792062;22863883;22908311;22926037;22939629;23074279;23220172;23245330;23256157;23341462;23455922;23504319;23602568;2369897;23797058;23806656;23942052;2394752;2413024;24140250;24192058;24244405;24344931;24389246;24571724;24578576;24700472;24747643;24816145;24855271;2500966;2504723;2548572;2722853;2833520;2843813;2874140;33381;3759968;4092695;6262777;7520867;7525582;7566346;7615546;7688126;7706316;7759492;7790358;7822264;7876254;7905001;7929424;7946090;8002936;8027074;8058338;8117614;8132598;8163498;8182057;8226875;8248197;8376365;8380342;8390988;8395513;8404858;8506364;8521865;8612821;8626492;8626720;8647104;8663227;8663994;8664319;8810272;8816779;8884279;8939981;8999860;9016641;9029147;9030586;9030777;9050991;9060639;9091312;9099667;9109552;9115213;9126608;9150141;9151826;9155020;9199504;9213219;9247274;9278385;9341190;9353289;9366517;9374536;9405392;9407077;9417067;9468536;9525956;9540970;9546672;9565682;9639573;9660950;9671211;9677319;9679146;9710607;9722526;9724719;9730685;9735171;9771888;9832145;9837753;9867809;9891036 5566 K7EMV1;K7ENJ5;K7ERP6;P17612;Q15136 ABBA01029689;ABBA01029690;AC022098;AF208004;AF224718;AF239744;AK093803;AK131561;AK290147;AK292284;AMYH02035602;AMYH02035603;AMYH02035604;AMYH02035605;BC039846;BC108259;BU543573;CH471106;DQ667173;M80335;NG_029699;NM_002730;NM_207518;X07767;XM_005259984 AAA60094;AAF75622;AAF76426;AAG35720;AAH39846;AAI08260;ABG25918;BAF82836;BAF84973;CAA30597;EAW84397;EAW84398;EAW84399;EAW84400;NP_002721;NP_997401;P17612;XP_005260041 Hs.631630 1658265;1682215;1798016;1854453;2144790;2148900;2181589 D1S3205;PRKACA__2119;RH47780;RH65125;RH69574;STS-N57750;WI-14108 MGC102831;MGC48865 PKA C-alpha;PKACA;cAMP-dependent protein kinase catalytic subunit alpha;cAMP-dependent protein kinase catalytic subunit alpha, isoform 1;protein kinase A catalytic subunit APPROVED protein-coding ENSG00000072062 HGNC:9380 03382 601639;615830 REVIEWED 1351287 PRKAR1B protein kinase, cAMP-dependent, regulatory, type I, beta Cyclic AMP-dependent protein kinase A (PKA) is an essential enzyme in the signaling pathway of the second messenger cAMP. Through phosphorylation of target proteins, PKA controls many biochemical events in the cell including regulation of metabolism, ion transport, and gene transcription. The PKA holoenzyme is composed of 2 regulatory and 2 catalytic subunits and dissociates from the regulatory subunits upon binding of cAMP.[supplied by OMIM, Jun 2009] 7 7 7 p22 558390 735169 - 588834 767313 - 549197 727676 - 619653;1580863;2312475;6480464;6907045 11161799;14715913 10228048;11943777;12052877;12067711;12373096;12477932;12626323;12634056;1358799;14966294;15629779;16344560;16407073;16777052;1708242;17168834;18836454;1978848;19895210;20029029;20379146;20392842;20402410;20467438;20588308;20936779;21145461;21651489;2165385;21890473;21906983;21963094;22505724;22863883;23000965;23455922;24722252;24816145;3479018;7688126;7925653;7946090;8407966;9151826;9278385;9671211;9730685 5575 C9IZL8;C9J4C2;C9JR00;C9JSK5;H7BYW5;P31321 ABBA01039293;ABBA01039294;ABBA01039295;ABBA01039296;ABBA01039297;ABBA01039298;ABBA01039299;ABBA01039300;ABBA01039301;ABBA01039302;ABBA01039303;ABBA01039304;AC144411;AC144526;AC147651;AK098822;AK289464;AK297337;AK315951;AK315990;AL833563;AMYH02015030;AMYH02015031;AMYH02015032;AMYH02015033;BC013368;BC026734;BC036828;BC070478;CH236965;CH236966;CH471144;CT003793;DA162030;DA210679;DA501689;DA910871;DC314672;M65066;NM_001164758;NM_001164759;NM_001164760;NM_001164761;NM_001164762;NM_002735;XM_005249809 AAC37564;AAH26734;AAH36828;AAH70478;ACE86761;ACE87448;BAF82153;BAG59793;BAH14322;BAH14361;EAW87163;EAW87164;EAW87165;EAW87166;NP_001158230;NP_001158231;NP_001158232;NP_001158233;NP_001158234;NP_002726;P31321;XP_005249866 Hs.520851 1648481;1655693;1662129;1725621;1730247;1786236;1790533;2107525;2117232;2166588;2185070 D7S2794;D7S540E;G10106;G62094;GDB:1318080;GDB:4585615;HSC182_(GAP_608_G);PRKAR1B;PRKAR1B__7235;RH48875;SHGC-130833 PRKAR1 OTTHUMP00000199947;OTTHUMP00000199948;OTTHUMP00000199949;OTTHUMP00000199952;cAMP-dependent protein kinase type I-beta regulatory subunit 2316038 GLUCO217_H APPROVED protein-coding ENSG00000188191 HGNC:9390 01485 176911 VALIDATED 5144653 PRKAR2A-AS1 PRKAR2A antisense RNA 1 3 3 3 48841606 48845653 + 48885370 48889415 + 48847937 48851982 + 16344560;8889548 100506637 ABBA01024629;AC134028;AC144546;AK127190;AMYH02006726;BM679717;DA100677;DA111905;HG495652;HG495653;HG495654;NR_109996;NR_109997 BAC86879 Hs.634259 RP11-316M24.1 APPROVED ncrna ENSG00000224424 HGNC:40471 VALIDATED 732434 PRKAR2A protein kinase, cAMP-dependent, regulatory, type II, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008] 3 3 3 p21.3-p21.2 48744318 48841506 - 48784017 48885270 - 48746584 48847837 - 1580714;1580863;2312475;6480464;6907045 10830164;14715913 10026146;10074940;10209101;10228048;10319321;10358086;10413680;10601332;10764601;10799517;10970852;10993882;11102458;11278869;11296225;11316952;11414803;11557526;11593431;11696326;11799244;11823486;11886862;11985580;12080047;12147701;12151104;12186851;12399526;12419802;12475942;12477932;12509440;12571360;12626323;12672969;12727975;12972513;14702039;14966294;1544918;15629779;1618839;16394127;16407073;16723498;16807684;17081983;17081989;17168834;17494870;17884635;18836454;19056867;19294699;19307216;19322201;19367581;1978848;19895210;19946888;20360068;20379146;20392842;20402410;20708017;21139048;21423175;2147685;21651489;2165385;21890473;21906983;21963094;22808067;22863883;22939629;23000965;23362281;23383273;23455922;23942052;24250222;24457600;24753254;24816145;2540040;2561973;2701845;6293815;7688126;7893490;7905481;7929081;7946090;8117614;8125992;8621616;9003463;9009265;9065479;9151826;9278385;9295304;9326583;9380760;9473338;9497389;9506976;9540970;9671211;9676433;9730685;9852104 5576 C9J830;H7C1L0;H7C330;H7C4A9;P13861;Q9BUB1 ABBA01024629;ABBA01024630;ABBA01024631;ABBA01024632;ABBA01024633;ABBA01024634;ABBA01024635;ABBA01024636;ABBA01024637;ABBA01024638;AC141002;AC144546;AK023535;AK026351;AK293042;AMYH02006725;AMYH02006726;BC002763;BT007225;CF994284;CH471055;NM_004157;X14968;X99455;XM_005265313;XM_005265314;XM_005265315;XR_427280 AAH02763;AAP35889;BAF85731;CAA33094;CAA67817;EAW64925;EAW64926;EAW64927;EAW64928;NP_004148;P13861;XP_005265370;XP_005265371;XP_005265372 Hs.631923 1774861;2115146 D3S3141;D3S3334 MGC3606;PKR2;PRKAR2 OTTHUMP00000164821;OTTHUMP00000210266;OTTHUMP00000210267;cAMP-dependent protein kinase regulatory subunit RII alpha;cAMP-dependent protein kinase type II-alpha regulatory subunit;protein kinase A, RII-alpha subunit;protein kinase, camp-dependent, regulatory, type 2, alpha APPROVED protein-coding ENSG00000114302 HGNC:9391 01484 176910 REVIEWED 1318621 PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008] 2 2 2 q35 213454874 213464282 - 219687083 219696526 - 218822383 218831789 - 1600678;1600679;1580863;6480464;6907045 12829246;15509864 10698692;10818001;12391032;12477932;14503854;14559719;14651849;14970697;15203218;15489334;16054041;16306365;17518971;17701023;17878938;18439900;18996102;19574280;19616115;19720090;19836452;19948975;20473479;20682687;20800603;20821366;21344388;21915095;23396962;23824909;8626596 53632 B4DT70;B4DUK8;C9JIC7;Q9UGI9 AA256383;ABBA01023857;AC009974;AF214519;AJ249977;AK300078;AK300687;AK309865;AMYH02005808;BC098102;BC098255;BC098277;BC098306;CD628195;CH471063;NG_016458;NM_017431;W94830 AAF73987;AAH98102;AAH98255;AAH98277;AAH98306;BAG61882;BAG62370;CAB65117;EAW70656;EAW70657;NP_059127;Q9UGI9 Hs.591634 1847753;2217846;5015273 G67375;PRKAG3_3832;SHGC-52801 AMPKG3 5'-AMP-activated protein kinase subunit gamma-3;5'-AMP-activated protein kinase, gamma-3 subunit;AMPK gamma-3 chain;AMPK gamma3;AMPK subunit gamma-3;OTTHUMP00000164095;OTTHUMP00000206393;OTTHUMP00000230855 APPROVED protein-coding ENSG00000115592 HGNC:9387 16085 604976 REVIEWED 1353748 PRKCDBP protein kinase C, delta binding protein The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6459218 6460782 - 6340176 6341740 - 6318946 6320510 - 633615;1580863;6480464 9054438 11691816;12477932;15940253;18059034;19262564;19679565;19679847;19913121;20423276;20628086;21139048;21150319;21906983;21913217;21963094;21980136;21987572;22939629;23020606;23118876 112464 E9PIE3;Q969G5 ABBA01028664;AC068733;AF339881;AF408198;AMYH02024266;BC011585;BC038387;BQ434360;CH471064;NM_145040 AAH11585;AAK97528;AAK97572;ABM83226;ABM86425;EAW68733;NP_659477;Q969G5 Hs.434044 1682041;1700126;2108881;2167426 PRKCDBP__5580.2;RH103676;RH80357;STS-AA030008 CAVIN3;HSRBC;MGC20400;SRBC;cavin-3 OTTHUMP00000164535;protein kinase C delta-binding protein;sdr-related gene product that binds to c-kinase;serum deprivation response factor-related gene product that binds to C-kinase APPROVED protein-coding ENSG00000170955 HGNC:9400 17908 REVIEWED 735310 PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008] 7 7 7 q22 101490496 101607543 + 106685178 106802256 + 107044733 107161811 + 1580863;2289157;2312475;6480464;6907045;8554872 11994539;14715913 10228048;10764601;10830164;10864471;11076863;11076968;11102458;11342137;11483602;11557526;11591815;11799244;12221128;12223483;12475942;12477932;12571245;12626323;12690205;12727985;12852856;12853948;1332964;1358799;14500661;14744463;15187164;15489336;15569306;15629779;15822905;1582408;16381901;16407073;16462731;1689049;17168834;17904549;18029348;18505904;18544528;18625701;18836454;19294699;1978848;19895210;20195266;20379146;20392842;20402410;20564261;21068099;21139048;21651489;2165385;21890473;21963094;22186894;22379998;22792062;23000965;23455922;23667531;24816145;2851102;3479018;3691190;7479855;7688126;7790358;7798223;7829531;7946090;8509414;8516283;9151826;9278385;9326583;9671211;9730685;9852104 5577 B3KY43;P31323 ABBA01057912;ABBA01057913;AC004492;AC006387;AK128639;AK291441;AL559918;AMYH02016507;AMYH02016508;AMYH02016509;BC014355;BC075800;BQ022817;CA405423;CF593944;CH236947;CH471070;M31158;NM_002736 AAA60099;AAC08318;AAH75800;AAS07389;BAF84130;BAG54705;CAL37606;CAL37649;CAL38136;CAL38576;EAL24395;EAW83390;EAW83391;NP_002727;P31323 Hs.433068 1644188;1644540;1848411;2125102;2132356;2145704;2145960;2164982;2175353;2182800;2186384 D7S2773;D7S2783;D7S3073;G36363;G36364;G36365;GDB:4585637;PRKAR2A;RH69117;SHGC-30240;SHGC-33294 PRKAR2;RII-BETA H_RG363E19.2;OTTHUMP00000174592;WUGSC:H_RG363E19.2;cAMP-dependent protein kinase type II-beta regulatory chain;cAMP-dependent protein kinase type II-beta regulatory subunit;protein kinase, camp dependent regulatory, type ii beta 1643388 BW321_H APPROVED protein-coding ENSG00000005249 HGNC:9392 01486 176912 REVIEWED 735732 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013] 17 17 17 q24.2 63079899 63100701 + 66507921 66547457 + 68511780 68551316 + 1581267;1581269;1580863;2312475;6480464;6907045;7240710;8554872;8699517 10973256;12213893;14715913 10026146;10228048;10764601;10864471;10889203;10974026;11115848;11256614;11414803;11834733;11839645;12119264;12119280;12203783;12424709;12471216;12475780;12477932;12571360;12606363;12626323;12634056;12665801;12752185;12759461;12804576;12812976;12829237;12896975;12972513;14500362;14702039;15096576;15231748;15299023;15331577;15345747;15371594;15489334;15604292;15629779;15655353;15846072;15982496;16020889;16189514;16196087;16344560;16394127;16396496;16407073;16582606;16728392;16728394;16728532;16963469;17036196;17047380;17079485;17081983;17168834;17353931;17369818;17884635;17904549;17906691;18056771;18059235;18223213;18241045;1832337;18401830;18407462;18413734;18445140;18451138;18647815;18760947;18799465;18836454;1889088;19060904;19293268;19322201;19372376;19429701;19465483;19494712;19573263;19710015;19730683;19738044;1978848;19833579;19895210;19915019;19946888;19965660;20026299;20048145;20190548;20195357;20301463;20358582;20379146;20392842;20402410;20507346;20562859;20564261;20639865;20824711;20936779;20972266;21139048;21145461;21394209;21423175;21638026;21651393;21651489;2165385;21890473;21900206;21900385;21906983;21963094;21988832;22020668;22053931;22112814;22205709;22259056;22297707;22378744;22461635;22505724;22632512;22797925;22808067;22863883;22892599;22922884;22939629;22951902;23000965;23043190;2310396;23184937;23197043;23349050;23402259;23443559;23455922;23602568;23667531;23942052;24144965;24170103;24248186;24316401;24618615;24778252;24816145;25015289;2902627;3426618;3479018;6287816;6333425;7678053;7688126;7946090;8407966;8609225;8619474;8698339;8977401;9050991;9065479;9110174;9151826;9278385;9326583;9405392;9540970;9671211;9730685;9852104 5573 B2R5T5;K7EID3;K7EIE5;K7EJ40;K7EK41;K7EKR1;K7EM13;K7EMU2;K7EMZ6;K7EPB2;K7EPR5;K7EQK3;P10644;Q68DQ4;X6RAV4 A12295;AA015682;ABBA01028957;AC007780;AC079210;AF411298;AI074326;AK097580;AK124586;AK312307;AL050038;AL535889;AMYH02033875;AMYH02033876;AW732104;AY007115;BC036285;BC093042;BM928493;BU167718;BU188258;CH471099;CR749311;DA108801;DA219203;DA413808;M18468;M33336;NG_007093;NM_001276289;NM_001276290;NM_001278433;NM_002734;NM_212471;NM_212472;S54705;S54707;S54709;S54711;Y07642 AAB50921;AAB50922;AAH36285;AAH93042;AAL05860;ABM82701;ABM85885;BAG35232;BAG53489;CAA01027;CAA68925;CAH18166;EAW89060;EAW89061;EAW89062;EAW89063;EAW89064;EAW89065;NP_001263218;NP_001263219;NP_001265362;NP_002725;NP_997636;NP_997637;P10644 Hs.280342;Hs.745160 1661974;1724767;1725571;1725701;1736666;1775464;1798018;1851356;2152080;5125487;5491983 D17S1496E;D17S2143;G62011;G62113;PRKAR1A;PRKAR1A_2228;RH122590;RH36406;RH70215;SHGC-36616;STS-D29564 ACRDYS1;CAR;CNC;CNC1;DKFZp779L0468;MGC17251;PKR1;PPNAD1;PRKAR1;TSE1 ADOHR;Carney complex type 1;cAMP-dependent protein kinase regulatory subunit RIalpha;cAMP-dependent protein kinase type I-alpha regulatory chain;cAMP-dependent protein kinase type I-alpha regulatory subunit;protein kinase A type 1a regulatory subunit;protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1);protein kinase, camp dependent regulatory, type i, alpha;tissue specific extinguisher 1;tissue-specific extinguisher 1 APPROVED protein-coding ENSG00000108946 HGNC:9388 01786 101800;160980;188550;188830;255960;610489 REVIEWED 731404 PRKCB protein kinase C, beta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 22625642 23009889 + 23847300 24231932 + 23835979 24220611 + 1581275;1581276;1581274;1625511;1625515;1625513;1625519;1625520;1625524;1625124;1625525;1625527;1580863;1625516;729635;737729;1625512;1625514;2298729;5131489;6480464;6484113;6907045;8554872 12118249;12392998;12540629;12665248;12887134;14680365;15058486;15496608;15616014;15804434;15878997;16360284;16900949;17180352;17250813;17347799;17658244;19934406;9918525 10194441;10212259;10417813;10433554;10446219;10480917;10490850;10491200;10493829;10502411;10531036;10542228;10641798;10828076;10843712;10856305;10862698;10871288;11003709;11035810;11044099;11063746;11078718;11120522;11120743;11123317;11141237;11145703;11154208;11179083;11278382;11278415;11283022;11306676;11325528;11376011;11502742;11504923;11598012;11700305;11744714;11749387;11765038;11781100;11805327;11833470;11884598;11901153;11919157;11930178;12023512;12033257;12054501;12056906;12070292;12080070;12093536;12134071;12147342;12149258;12167592;12356761;12435880;12456365;12477932;12482669;12509514;12519779;12551925;12569090;12618484;12665801;12679936;12682249;12724308;12730099;12743109;12765965;12766174;12874455;12917261;12950453;12958364;1321150;1324914;1400396;14527960;14561740;14594954;14602581;14623273;14654844;14654845;14699138;14702039;15037605;15067001;15090600;15188402;15213298;15252133;15322124;15327405;15381704;15384959;15488737;15489334;15499829;15546881;1556124;15591231;15611095;15632189;15647851;15689238;15716278;15741241;15880462;15894802;15917249;16000408;16027742;16055064;16080189;16102725;1611098;16111671;16224561;16236825;16331690;16356855;16430878;16472601;16517978;16567829;16574992;16574993;16626305;16673150;16775601;16831865;16854530;16930534;16954220;17003377;17069764;17115053;17121852;17133356;1714454;17167344;17192257;17203073;17227757;17455194;17545677;17625596;17632570;17719638;17846295;17893151;17926183;17936705;17950644;17991733;18067888;18162466;18162471;18167130;18172602;18278479;18292183;18303026;18317465;1832084;18440851;18472156;18497307;18541226;18557705;18577246;18596232;18632858;18637128;18692180;18701509;18714023;18768137;18937679;18981301;19091746;19112601;19168795;19277684;19295663;19363595;19573263;19681907;19693767;1970444;19738201;19887445;19895572;19907441;19913121;19920073;19949911;19966859;20015121;20098747;20099025;20141354;20164467;20179100;20228790;20336759;20346360;20379614;20439192;20442744;20511681;20522523;20534587;20618341;20628086;20736472;20842205;20846475;21044950;21134959;21323641;2139676;2140056;21467074;21482705;21525390;21651489;21817106;2182321;21997316;22016563;22114277;22114345;22162761;22197823;22322241;22446963;22479367;22547057;22633971;22670899;22833470;22930730;22939624;23042805;23128233;23204109;23280626;23328482;23337848;23439007;23455922;23458603;23503679;23562913;23617822;23695799;23905995;23960082;23963366;23974215;24039784;24316392;24378530;24401212;24440741;24681954;24816145;25015289;2757032;3259291;3658678;3666134;3677994;3755548;7499337;7588787;7642615;7693453;7716516;7850771;7876252;7876254;7880442;7961692;8034666;8034726;8080473;8089108;8163551;8206685;8327493;8473314;8557118;8599832;8626698;8627654;8631738;8662663;8663071;8694767;8749392;8824244;8898866;8899875;8914829;8940095;8940188;8964400;9021343;9030777;9052983;9151826;9244383;9296367;9446795;9475183;9671211;9677319;9694886;9765207;9814702;9815893;9856494 5579 H3BV73;I3L148;I3L1Z0;P05771 AA613106;ABBA01017076;ABBA01017077;ABBA01017078;ABBA01017079;ABBA01017080;ABBA01017081;ABBA01017082;ABBA01017083;AC002299;AC010268;AC130448;AC130454;AI423262;AJ002788;AK057555;AK123381;AL833252;AMYH02031708;AMYH02031709;AMYH02031710;AMYH02031711;AMYH02031712;AMYH02031713;AMYH02031714;AMYH02031715;AMYH02031716;BC036472;BC045175;BI549165;CH471145;D10022;DB456157;FJ907246;GN375923;KC877601;M13975;M18254;M18255;NG_029003;NM_002738;NM_212535;S47311;X05971;X05972;X06318;X07109;X62532 AAA60095;AAA60096;AAA60097;AAB97933;AAB97934;AAD13852;AAH36472;ACE87802;ACS14045;ACT64387;BAA00912;CAA29395;CAA29396;CAA29634;CAA30130;CAA44393;CAZ00742;EAW55796;EAW55797;EAW55798;EAW55799;NP_002729;NP_997700;P05771 Hs.460355 1651764;1661709;1661878;1686012;1729542;1736584;1738589;1741363;1775482;1854814;2147222;2155177;2164339;2186209;5093128 A009H10;D16S2567E;D16S2580E;D16S2744;D16S294;D16S3216;G32537;GDB:180922;RH68302;RH70812;RH93580;SHGC-30376;SHGC-60507;SHGC-61073;WI-12240 MGC41878;PKC-B;PKC-beta;PKCB;PRKCB1;PRKCB2 OTTHUMP00000162377;OTTHUMP00000162378;protein kinase C beta 1;protein kinase C beta type;protein kinase C, beta 1 polypeptide APPROVED protein-coding ENSG00000166501 HGNC:9395 01499 176970 REVIEWED 735345 PRKCH protein kinase C, eta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. [provided by RefSeq, Jul 2008] 14 14 14 q23.1 41838808 42067977 + 61788515 62017698 + 61321797 61550980 + 1580863;5131657;5131489;6480464;6484113;7240710;8554872 19934406;9677361 10491200;10491320;10497222;10641798;10806212;10843712;10867018;11044099;11141237;11154208;11175348;11504923;11700305;11727958;11741879;11772428;11781100;11833470;11884598;11919157;12080077;12223477;12477932;12482669;12646210;12783114;12829844;14666709;14702039;15003508;15159477;15383279;1545811;1545821;15489897;15632189;15689238;1590767;16226712;16242915;17146445;17195206;17203073;17206144;17335965;17492941;17786031;17904606;17957454;18164711;1832084;18504423;18577246;18780722;18854154;19056867;19069168;19114660;19198108;19211565;19286657;19363595;19520989;19523467;19693767;19703523;1970444;19797084;1986216;19920073;20001341;20184865;20336759;20379614;20486122;20602195;20677014;20936779;21139048;21346190;2139676;21625852;21651489;21756056;21820409;2182321;21906983;22044875;22114277;22213077;22305966;22446963;22505724;22664044;22808203;22892130;22939624;22999931;23562764;23563609;23738518;23868949;24390342;24784886;3259291;7642615;7850771;7876252;7988719;8206685;8473314;8599832;8621384;8621660;8627654;8914829;9151826;9446795;9671211 5583 G3V304;G3V3E7;G3V4G6;G3V4H0;G3V4L3;G3V4Q6;G3V4Q9;G3V4X4;G3V520;G3V5F8;G3V5U5;G3V5Y6;P24723 AB451313;ABBA01018298;ABBA01018299;ABBA01018300;AF045569;AK093241;AK290183;AK296158;AK300864;AL138996;AL355916;AMYH02029309;AMYH02029310;AMYH02029311;AMYH02029312;AMYH02029313;AW008462;AX775931;AX775933;BC001000;BC037268;BP367689;CA447784;CB994021;CD522081;CH471061;CQ834780;HI574284;M55284;NG_011514;NM_006255;S74620 AAA60100;AAB32724;AAD12779;AAH01000;AAH37268;ABM81816;ABM84971;BAF82872;BAG58897;BAG62513;BAG70127;CAE11665;CAE11666;CAH05605;CBX47631;EAW80800;EAW80801;EAW80802;NP_006246;P24723 Hs.333907 1660029;1704982;1706774;1731613;1742625;1742629;1742631;1742637;1742639;1742645;1742649;1750695;1771406;1771408;1774122 A005M45;D14S1245;D14S1258;D14S168;G20342;GDB:198169;GDB:198171;GDB:198172;GDB:198175;GDB:198176;GDB:198180;GDB:198182;SHGC-112178;SHGC-77995;SHGC-80856 MGC26269;MGC5363;PKC-L;PKCL;PRKCL;nPKC-eta OTTHUMP00000179058;OTTHUMP00000246352;protein kinase C eta type;protein kinase c-eta APPROVED protein-coding ENSG00000027075 HGNC:9403 05669 601367;605437 REVIEWED 69026 PRKCD protein kinase C, delta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 53162239 53193756 + 53195223 53226733 + 53161207 53192717 + 1581271;1581272;1580863;1642524;1642527;1642533;1642542;1642547;1642521;729667;1642523;1642532;1642534;1642535;1625605;1642550;2298730;5131489;6480464;6484113;6907045;8699517;7240710;8554872 10756122;11478406;11576956;12217885;15507533;15532718;15541367;15792354;16924416;16990486;17322024;17350602;17596878;17659678;19934406;8826977;9458880 10022904;10090741;10206975;10212259;10329716;10383400;10383403;10433554;10446219;10491200;10521505;10542228;10542257;10628374;10641798;10646504;10698949;10737616;10770950;10831594;10843712;10945993;10948194;11020388;11035810;11042191;11044099;11053353;11078718;11085981;11141237;11145703;11154208;11171046;11266508;11278470;11335711;11350938;11352632;11381116;11389095;11415434;11438522;11463380;11466390;11502742;11504923;11517230;11555640;11558579;11571229;11577086;11676480;11700305;11713246;11723252;11732925;11744693;11748588;11749387;11781095;11818507;11822877;11833470;11839738;11864971;11877428;11877440;11884598;11884618;11901153;11901191;11914583;11916978;11919157;11923305;11943682;11950841;11959144;11964256;11972023;12014986;12024011;12031982;12054501;12056906;12080077;12091471;12093536;12097319;12134071;12147630;12154081;12162751;12193405;12198130;12210761;12235228;12361954;12377207;12377781;12379484;12387894;12393602;12427758;12431976;12435421;12454008;12477932;12482669;12493764;12505880;12510148;12522006;12535519;12536241;12551925;12576423;12628935;12634498;12637327;12649167;12663471;12682249;12682370;12721299;12729789;12759139;12759229;12759450;12763138;12783114;12795334;12805378;12807916;12809676;12817007;12826681;12842900;12847277;12941954;12943720;14527959;14551213;14561742;14578358;14581488;14583092;14596936;14636897;14654844;14656938;14661062;14699137;14699138;14715667;14720513;14757756;14963018;14966116;14970215;15024053;15044084;15123666;15133032;15167677;15175028;15213298;15280372;15282327;15284289;15302935;15304079;15308560;15322115;15331751;15337529;15340077;15358156;15364919;15381704;15488737;15489375;15494216;15494525;15516986;15536414;15601585;15618223;15618968;15623535;15632189;15637072;15689238;15698833;15716280;15731106;15735693;15757899;15774464;15802551;15806174;15824731;15851033;15894802;15923181;15942654;15978696;16024613;16024783;16033904;16039614;16042408;16052516;16055435;16055706;16114000;16127146;16158048;16174865;16260419;16278684;16314418;16343435;16377624;16403461;16410245;16412390;16421932;16440330;16460683;16489124;16505477;16543902;16572399;16611985;16614259;16646678;16651613;16669786;16687414;16772297;1677563;16785027;16785226;16843828;16895913;16901898;16930532;16930534;1694174;16951338;16981720;16982614;17017122;17126298;17135298;17178875;17203073;17210122;17226776;17244494;17303575;17311929;17316401;17374730;17392515;17431791;17455223;17495969;17549442;17562707;17565738;17579121;17603046;17608772;17666590;17673262;17689924;17698617;17850925;17893151;17904606;17933493;17938203;17943181;17959229;17965192;18006831;18029348;18055557;18067888;18092356;18092819;18172602;18285345;18285462;1832084;18342628;18362147;18413747;18425341;18434324;18436431;18479751;1848190;18497307;18541226;18550547;18556656;18577246;18579725;18594782;18637128;18637130;18653803;18682391;18692180;18752579;18836180;18854243;18952226;18974277;18990707;19002183;19015273;19030108;19037087;19056867;19059439;19074768;19146951;19158279;19164129;19169273;19188511;19190347;19213940;19248119;19248786;19279008;19279011;19279193;19356729;19363595;19366211;19380743;1939065;19437514;19458088;19458393;19477272;19492056;19553685;19563780;19581935;19591825;19592494;19632318;19662097;19664934;19667069;19669929;1970444;19725029;19747914;19801500;19808702;19833733;19854263;19875824;19885862;19897486;19903772;19913121;19917613;19920073;19924022;19932628;19951712;19953087;19966859;20074641;20086103;20093486;20097574;20110406;20152816;20184865;20190138;20236250;20301476;20335173;20336759;20379614;20395553;20416077;20471435;20547768;20548952;20607592;20628086;20665667;20732874;20733000;20959447;20961851;20974803;21139048;21146494;21155880;21159880;21191175;21191416;21233420;21307189;21311042;21321929;21326872;21335545;21362509;21386996;2139676;21454541;21468691;21482705;21562222;21576825;21618512;21651489;21652709;21730054;21732487;21736870;21804018;21805047;2182321;21832049;21840193;21858203;21890473;21895402;21906983;21926972;22001522;22009151;22052014;22065579;22114277;22162761;22163289;22199349;22216119;22266210;22282354;22326427;22356114;22374815;22403741;22435755;22475757;22496486;22517552;22528498;22554282;22653778;22687273;22744337;22847611;22974980;22984491;22988234;23000965;23028692;23108398;23128233;23221613;23283232;23317503;23319571;23322705;23349801;23430113;23449456;23454274;23455922;23473759;23474764;23520519;23524339;23525216;23536578;23559010;23562842;23596171;23599428;23666743;23814099;23879269;23881925;23988089;24211111;24332066;24500281;24500718;24816145;25027693;2984676;2987962;3259291;7543024;7559455;7575560;7588787;7642615;7690989;7706316;7781068;7850771;7876252;7890750;7925449;7988719;8089108;8188219;8206685;8357834;8429024;8473314;8599832;8621384;8621594;8627654;8647875;8810272;8824244;8914829;8976194;8999860;8999969;9139733;9151826;9166747;9305920;9343414;9355737;9427282;9446795;9671211;9679146;9705322;9735171;9748166;9771888;9774685;9804763;9819435;9832145;9857183;9872331 5580 C9J9P1;C9JZU8;C9K0E3;Q05655 ABBA01024491;ABBA01024492;AC097015;AK130150;AK294272;AK313216;AMYH02006824;AMYH02006825;AW293041;BC043350;BC127261;BE048101;CD369320;CH471055;D10495;DQ516383;FB775496;L07860;L07861;NG_033864;NM_006254;NM_212539;XM_006713257;XM_006713258;XM_006713259;Z22521 AAA03175;AAA03176;AAH43350;ABF68960;BAA01381;BAG36031;BAG57562;CAA80249;CAV30705;EAW65279;EAW65280;NP_006245;NP_997704;Q05655;XP_006713320;XP_006713321;XP_006713322 Hs.155342 1715649;1769911;1857485;2133934;2217848 A007D36;D2S2845;PRKCD_2760;RH119270;RH12466 CVID9;MAY1;MGC49908;PKCD;nPKC-delta OTTHUMP00000165024;OTTHUMP00000165025;protein kinase C delta VIII;protein kinase C delta type;tyrosine-protein kinase PRKCD APPROVED protein-coding ENSG00000163932 HGNC:9399 01501 176977;615559 REVIEWED 732858 PRKCG protein kinase C, gamma Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). [provided by RefSeq, Jul 2008] 19 19 19 q13.4 51426508 51451938 + 54385467 54410906 + 53882213 53907647 + 737791;1580863;1625124;737790;5131489;6480464;6484113;6907045;7240710;8554872;8699517 12644968;17347799;19934406;9545390 10194441;10212259;10433554;10441600;10491200;10531036;10542228;10547041;10641798;10843712;10856305;10862698;10871288;10939565;11035810;11042191;11044099;11063746;11123317;11141237;11154208;11278415;11306676;11325528;11502742;11504923;11700305;11749387;11833470;11884598;11919157;12054501;12091471;12093536;12134071;12147342;12164726;12417016;12471040;12477932;12482669;12519779;12551925;12569090;12950453;12954613;12958364;14561742;14654844;14676051;14676191;14694043;14699138;15003508;15014953;15148151;15313841;15364919;15381704;15459208;15467523;15489334;15689238;15808853;15851033;15894802;15964845;16055064;16193476;16394101;16713569;16828200;1714454;17203073;17233759;17343273;17508994;17562946;17659643;17708558;1832084;18499672;18503760;18577246;18577575;18716283;19041943;19060919;19165527;19234085;19363595;19561170;1970444;19895572;19913121;19920073;20188713;20301317;20301573;20336759;20346360;20395553;20398063;20471030;20596523;20627017;20628086;21235400;2139676;21434874;21482705;21536681;21651489;2182321;21827914;21832049;21906004;22114277;22114345;22675081;22939624;2307474;24021284;24117238;24134140;2460293;3259291;3755548;7499337;7588787;7606770;7642615;7850771;7876252;8080473;8206685;8375396;8432525;8473314;8599832;8627654;8631738;8662663;8914829;8940095;8940188;9030777;9151826;9244383;9345108;9446795;9576922;9671211;9694886;9786959;9814702 5582 B7Z870;H7BZ60;M0R0I9;M0R0Z4;P05129 AB209671;ABBA01068186;ABBA01068187;ABBA01068188;ABBA01068189;ABBA01068190;AC008440;AF345987;AK296412;AK296434;AK302958;AK303741;AK312302;AMYH02036434;AMYH02036435;BC047876;BI757265;CH471135;M13977;NG_009114;NM_002739;Z15114 AAA60102;AAH47876;AAK13533;BAD92908;BAG35228;BAH12345;BAH12352;BAH13856;BAH14036;CAA78820;EAW72161;NP_002730;P05129 Hs.631564 1338022;1341189;1341926;1805464;1807276;1808442;1812242;1815736;1816210;1816464;1820600;1823582;1825046;1825272;1828140;1828876;1830534;1832250;1835258;1840064;1840206;1840390;1841012;1842322;1844148;1844324;1845146;2103320;2103322;2103324;2103326;2103328;2103330;2103332;2103334;2103336;2103338;2103340;2103342;2103344;2107527;2157772;2190847;5037552 D19S206;D19S605;D19S926;D8S2279;ECD03680;ECD04606;ECD05203;ECD07128;ECD08906;ECD09146;ECD09274;ECD11375;ECD12883;ECD13624;ECD13740;ECD15193;ECD15565;ECD16403;ECD17263;ECD18784;ECD21216;ECD21287;ECD21380;ECD21699;ECD22364;ECD23287;ECD23376;ECD23790;PRKCG;PRKCG_2490.2;WI-20598;stSG605621;stSG605622;stSG605623;stSG605624;stSG605627;stSG605628;stSG605630;stSG605633;stSG605635;stSG605636;stSG605637;stSG605639;stSG605640 MGC57564;PKC-gamma;PKCC;PKCG;SCA14 OTTHUMP00000067291;protein kinase C gamma type APPROVED protein-coding ENSG00000126583 HGNC:9402 01502 176980;605361 REVIEWED 736442 PRKCE protein kinase C, epsilon Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008] 2 2 2 p21 45717245 46253470 + 45878454 46415129 + 45651315 46187990 + 1581271;1580863;5131489;6480464;6484113;6907045;8554872 15792354;19934406 10092595;10212259;10407019;10417813;10438519;10491200;10536000;10641798;10679481;10801826;10843712;10848585;10862698;10945988;11044099;11062054;11085981;11140687;11141237;11154208;11350735;11504923;11553773;11696589;11700305;11709417;11739292;11740573;11788586;11809819;11833470;11834516;11839754;11877428;11884385;11897493;11919157;11934885;11950841;11956211;11964154;11968018;11994357;11997513;12055197;12093536;12121973;12134071;12185081;12198125;12205039;12223477;12372810;12372816;12385023;12477932;12482669;12505875;12505880;12536241;12640464;12663490;12665800;12782628;12783114;12794082;12857743;12893243;12941947;12970744;12972433;1374067;1382605;14523239;14532285;14600145;14643884;14656938;14709334;14720513;14739299;15003508;15078178;15147202;15190080;15213298;15233804;15284224;15364951;15368451;15381704;15467757;15488737;15489334;15499829;15509588;15559761;15572354;15627650;15632189;15689238;15691837;15695813;15698833;15718244;15784626;15809302;15815621;15827341;15894802;15949469;15967991;16079188;16266318;16314418;16461926;16637058;16698938;16785234;16793902;16810323;16930532;17018591;17038313;17203073;17215072;17382347;17392515;17434141;17561374;17569788;17603037;17616661;17628663;17632570;17668322;17678893;17785460;17851107;17991733;18171914;18172602;18184679;18237277;18292183;18296444;18317451;18319301;1832084;18398416;18408015;18436431;18458086;18462068;18556656;18577246;18604201;18663158;18844064;18947333;18988868;19011111;19030108;19168130;19193863;19244118;19248786;19324950;19363595;19429675;19432558;19435802;19542546;19573263;19577658;19633292;19635931;19655190;19662078;1970444;19815625;19862010;19874574;19920073;20072156;20139978;20171211;20198332;20200978;20336759;20350291;20353823;20379614;20471435;20566643;20677014;20732874;20936779;20965248;21041247;21081127;21124804;21236337;21277149;21283634;2139676;21411725;21423656;21465464;21482705;21489985;21532342;21596133;21649687;21651489;2182321;21858203;21955404;21964026;21996750;22114277;22158047;22162761;22304920;22326427;22384062;22424883;22475757;22712879;22773829;22849349;22927445;22939624;22955280;23071564;23123196;23166209;23222517;23266964;23349801;23364795;23446634;23457043;23524339;23562764;23564461;23589174;23612973;23824184;23824807;23934736;23967087;23977066;24070896;24127568;24166186;24298017;24312401;24338688;24788249;24825907;24872409;3259291;7522330;7523419;7588787;7642615;7850771;7876252;7877991;7935319;8206685;8224184;8346200;8473314;8567732;8599832;8621384;8627654;8824244;8914829;8940095;9151826;9312127;9360998;9446795;9671211;9822674 5581 C9JR22;E9PBI2;L7RTI5;Q02156 ABBA01075130;ABBA01075131;ABBA01075132;ABBA01075133;ABBA01075134;ABBA01075135;AC017006;AC017078;AC079892;AC092600;AC115109;AK128749;AK313842;AL832345;AMYH02003722;AMYH02003723;AMYH02003724;AMYH02003725;AMYH02003726;AMYH02003727;AMYH02003728;AMYH02003729;AMYH02003730;AMYH02003731;AMYH02003732;AMYH02003733;BC029576;BC051195;BC054052;BC109033;BC109034;CA424727;CH471053;EU332867;JX512458;NM_005400;U51244;X65293;XM_005264428;XM_005264429;XM_005264431;XM_006712049;XM_006712050 AAD08855;AAI09034;AAI09035;AAX93119;AAX93253;AAY14773;ABY87556;AGC09605;BAG36574;CAA46388;EAX00257;EAX00258;EAX00259;NP_005391;Q02156;XP_005264485;XP_005264486;XP_005264488;XP_006712112;XP_006712113 Hs.580351 1336130;1337055;1338927;1339320;1659231;1672760;1672762;1673995;1676592;1679151;1685079;1690131;1709314;1710956;1714587;1722077;1723317;1726245;1734222;1734970;1739289;1753659;1764781;1772453;1772455;2130841;2138044;2145927;2166744;2171828;2175308;7186490 A006D15;D2S1489;D2S1717E;D2S1953E;D2S2182;D2S2240;D2S2378;D2S391;G20720;G60078;G63864;RH118474;RH119807;RH16512;RH18396;RH48314;RH68597;RH91418;RH91582;RH92278;RH98368;SHGC-107519;SHGC-148352;SHGC-34686;SHGC-63514;SHGC-81643;SHGC-84453;WI-10606;WI-10633;WI-13380;WI-19686 MGC125656;MGC125657;PKCE;nPKC-epsilon OTTHUMP00000159032;protein kinase C epsilon type APPROVED protein-coding ENSG00000171132 HGNC:9401 01500 176975 REVIEWED 7177053 PRKCQ-AS1 PRKCQ antisense RNA 1 INTERACTS WITH all-trans-retinoic acid; valproic acid 10 10 10 p14 6545031 6549974 + 6622387 6629121 + 6587826 6596875 + 6480464 15146197;8619474;9110174 439949 ABBA01034764;AF088007;AL158043;AMYH02022067;AY007155;CN429636;DB554966;NR_036502;NR_036503;XR_424101;XR_428664;XR_432533 Hs.13262;Hs.46689;Hs.590987 1668915;1681038;1847891 RH98848;SHGC-16603;WI-20653 RP11-5N23.2 ncrna HGNC:44689 VALIDATED 737062 PRKCA protein kinase C, alpha Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008] 17 17 17 q22-q23.2 60870958 61379534 + 64298760 64806862 + 66302642 66810744 + 1581271;1581272;1581273;1581274;1625124;1580863;1601471;2298729;2292446;2292462;2292478;2292455;2298669;2298671;2292458;2292460;2292463;2292480;2293301;2292474;5131489;6480464;6484113;6907045;8699517;8554872 10589745;11371124;12619877;12888898;15454252;15532718;15792354;15922420;16008942;17347799;17556659;17658244;17700073;17905752;17965220;18032736;19934406;8077302;9474241;9918525 10022904;10194441;10212259;10339425;10358153;10366608;10383403;10398585;10400690;10433554;10441128;10477766;10491200;10501226;10531036;10617144;10628374;10641798;10667577;10739259;10760275;10766777;10770950;10779366;10806197;10816571;10823959;10825394;10831594;10843712;10848585;10856305;10858434;10861222;10871288;10874031;10889043;10912793;10934041;10970850;10993892;11007882;11007883;11024037;11035810;11042115;11042191;11044099;11063746;11085981;11104776;11121119;11123317;11141237;11145703;11154208;11237868;11238007;11246878;11248124;11273731;11278415;11278470;11284700;11298324;11306676;11312657;11316952;11325528;11325968;11342557;11343707;11387207;11397799;11399752;11438671;11466413;11498053;11502742;11504827;11504923;11517287;11557526;11588141;11688977;11700305;11705379;11740573;11741957;11744641;11744714;11749387;11751262;11781100;11788586;11805101;11833470;11836255;11864971;11884598;11895474;11895774;11901153;11904166;11909826;11910029;11916978;11919157;11930178;11937501;11950841;12000751;12034821;12052829;12054501;12056906;12058067;12064599;12077120;12080070;12093536;12097375;12112001;12134071;12135703;12138090;12138200;12147342;12149272;12162751;12173071;12175859;12269829;12351446;12351631;12359212;12370102;12372800;12372816;12399526;12412804;12431982;12435334;12459461;12477932;12482669;12486117;12490289;12509413;12519779;12531893;12536241;12551925;12569090;12571249;12586732;12595241;12609995;12610653;12618484;12630910;12632071;12647293;12652652;12665801;12670483;12682370;12704190;12724315;12754211;12754513;12773393;12783114;12805550;12824193;12839565;12843260;12878187;12881490;12890670;12893243;12896972;12907651;12919677;12930825;12950453;12952980;12954613;12958364;12960759;12972622;1321150;1322130;1324914;1335366;1374067;1375933;1377674;14527960;14532112;1454855;14596793;14606067;14636580;14654844;14670076;14699138;14702039;14709334;14739142;14960580;15003508;15051732;15069082;15084746;15121854;15123666;15134451;15155525;15159477;15169840;15192100;15221008;15228384;15233804;15269224;15272003;15277524;15284224;15381704;15383279;15456937;15488737;15489334;15499829;15504744;15509588;15531915;1553557;15555220;15563462;15564481;15572354;15576373;15583006;15603822;15613483;15627650;15632189;15689238;15691837;15757899;15814724;15894802;15896703;15917995;15927069;16006559;16027158;16042408;16055064;16079140;16080189;16081872;16087181;16099831;16236797;16297876;16300929;16314418;16338977;16371461;16517978;16571380;16620963;1663499;16642043;16673150;16697522;16710050;16751194;16775601;16836077;16890208;16923831;16939222;16942862;16963226;16964243;16964312;16979586;16984735;17061041;17081983;1714454;17157935;17171646;17192257;17197445;17203073;17212360;17244820;17255356;17307332;17321722;17334233;17341442;17350576;17392515;17438848;17455194;17459358;17525530;17545611;17588800;17591920;17632570;17666590;17689692;17724468;17786270;17828490;17893151;17904606;17923691;17934063;17936705;17951978;17974965;17983652;18029348;18056764;18089814;18162471;18184679;18206668;18239055;1827443;18281137;18292781;18314869;1832084;18354190;18372238;18372343;18401527;18434368;18474624;18489726;18503554;18534651;18556656;18566014;18566587;18577246;18622039;18632858;18637128;18660489;18755856;18950621;18983267;18991684;19029835;19056838;19056867;19060919;19073232;19086053;19087983;19088254;19097143;19116345;19117992;19158275;19176518;19235902;19281832;19291828;19322201;19324870;19324950;19340015;19356729;19357285;19363595;19449091;19459855;19509063;19523156;19576566;19592459;19609943;19626679;19635931;19639961;19655190;19672862;19681907;19698232;1970444;19712589;19786960;19794964;19801684;19825989;19855090;19895572;19920073;19950169;20011080;20030858;20032081;20056645;20141446;20145126;20149875;20216103;20228790;20333651;20336759;20346360;20350647;20379614;20385812;20398285;2040602;20407865;20419132;20422977;20426528;20430034;20433920;20444294;20453000;20458747;20486122;20506636;20513439;2061327;20618341;20622900;20673527;20689063;20691662;20815813;20816195;20819076;20842205;20940303;21045808;21090097;21106355;21113078;21139048;2114109;21156808;21321125;21323641;21354279;21386996;21389833;2139676;21448905;21474332;21482705;2155236;21576361;21651489;21658388;21705328;21712053;21720730;21735098;21741352;2182321;21825068;21829170;21840882;21873429;21890473;21895402;21903576;21949397;21952047;21957166;21988832;22021425;22027822;22031842;22087225;22101235;22114277;22114345;22242952;22242955;22247259;22393054;22407785;22469974;22475757;22505724;22532149;22532564;22536444;22537850;22559731;22582175;22586106;22617682;22639047;22653970;22670899;22685300;22732145;22773839;22797061;22815910;22865467;22872490;22898813;22919060;22939624;22939629;22969158;23000965;23066026;23070544;23098446;23114726;23115237;23201854;23288845;23349388;2336401;23389293;23393340;23401860;23402259;23468872;23508961;23524339;23525101;23526078;23536578;23589289;23680674;23726511;23754287;23824807;23838138;23844163;23867815;23870195;23882690;23887639;23893289;23898208;23900841;23940030;23977066;24029232;24040137;2413024;24219286;24225947;24256571;24297175;24316392;24336654;24366551;24401212;24505490;24559055;24632200;2473066;24790081;24816145;2500966;2584239;2941417;2946940;2996780;3160694;3259291;3472757;3755548;7499337;7520867;7522330;7523419;7525583;7539802;7540194;7588787;7595479;7642615;7644499;7646439;7759492;7822264;7850771;7876252;7876254;7925482;7926007;7935319;8034575;8080473;8089108;8178481;8206685;8206971;8321321;8375396;8390988;8404858;8463287;8473314;8477740;8506364;8530412;8557118;8599832;8617805;8627654;8631738;8647866;8662663;8663071;8663267;8663994;8798526;8848293;8856079;8914829;8940095;8940188;9016777;9030586;9030777;9032396;9049329;9072970;9099667;9099669;9109675;9139671;9151826;9155020;9202019;9242710;9244383;9341188;9341215;9346285;9353340;9374536;9389649;9405395;9446795;9468546;9480874;9506976;9556568;9566962;9571186;9624226;9647734;9670010;9671211;9677319;9694886;9716136;9716497;9721757;9722557;9738012;9814702;9830023;9837753;9837921;9839716;9853757;9927633;9935181 5578 J3KN97;J3KRN5;P17252;Q7Z727 AA017296;AB209475;AB451258;AB451383;ABBA01029020;ABBA01029021;ABBA01029022;ABBA01029023;ABBA01029024;ABBA01029025;ABBA01029026;ABBA01029027;ABBA01029028;ABBA01029029;AC005918;AC005988;AC006263;AC006947;AC009452;AC060796;AF035594;AF035595;AF086287;AF395829;AK055431;AK125425;AK130736;AL596674;AMYH02033817;AMYH02033818;AMYH02033819;AMYH02033820;AMYH02033821;AMYH02033822;AMYH02033823;AMYH02033824;AMYH02033825;AMYH02033826;AMYH02033827;AY633609;BC015855;BC053321;BC062759;BC071767;BC103691;BC107592;BC109273;BC109274;BC122530;BM015483;BQ018414;BU150006;BX648954;CA417000;CH471099;CS098008;FB764948;KF456310;KF456322;M22199;NG_012206;NM_002737;X52479;XM_006721972;XR_243672;XR_243673 AAA60098;AAH53321;AAI09274;AAI09275;AAK84184;AAV33302;ACE87779;ACT64445;BAD92712;BAG70072;BAG70197;CAA36718;CAJ00128;CAV30668;EAW89014;NP_002728;P17252;XP_006722035 Hs.531704;Hs.708867 1336942;1341398;1648310;1652985;1663433;1673044;1704282;1716733;1717275;1717467;1718461;1729073;1761057;1764485;1770187;2112544;2134221;2134223;2149236;2167472;2219560;5014051;5022200;5109281;7185561 A007G15;D17S1291;D17S1318;D17S1524;D17S1816;D17S1977;D17S942;D1S1425;D3S4330;D8S2278;GDB:371878;L18003;L18426;PRKCA_2806;Prkca;RH121658;RH122052;RH122238;RH122431;RH68523;SHGC-145007;SHGC-148093;SHGC-57849;SHGC-83280 AAG6;MGC129900;MGC129901;PKC-A;PKC-alpha;PKCA PRKACA;aging-associated gene 6;protein kinase C alpha type APPROVED protein-coding ENSG00000154229 HGNC:9393 01498 176960 REVIEWED 732937 PRKCI protein kinase C, iota This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. [provided by RefSeq, Jul 2008] 3 3 3 q26.3 168339909 168423454 + 169940220 170023770 + 170222432 170305982 + 1580863;2292460;2314932;2314944;5131498;5132275;5131489;6480464;6484113;6907045 12888898;14691046;16525119;18538170;19934406;20136499 10022904;10356400;10383403;10467349;10491200;10567402;10641798;10764742;10843712;10848576;10934474;11044099;11141237;11154208;11158308;11244088;11257119;11260256;11504923;11574546;11669302;11713277;11724794;11833470;11856176;11919157;11978974;12140376;12459187;12477932;12482669;12725730;12761193;12791393;12813044;12815264;12832475;12893243;14570876;14670960;14676191;14684752;15024028;15037605;15143057;15146197;15192100;15302858;15324659;15489334;15590654;15689238;15695176;15705582;15887250;15994303;16116079;16125198;16341674;16361262;16644736;16678097;16820593;16861740;16997282;17133348;17350623;17570678;17588663;17626746;17979178;17990328;18211289;18212741;18234642;18270268;1832084;18427549;18562307;18571841;18577246;18632643;19056867;19060919;19101699;19243387;19290490;19322201;19327373;19363595;19549684;19615732;19617897;1970444;19774416;19805306;20336759;20360068;20371701;20445233;20463008;20562859;20686607;20808283;20815904;20945390;21139048;21189248;21300793;21310827;21315177;21373201;2139676;21419810;21497093;21535317;21651489;21667320;21685893;21775625;2182321;21832049;21900206;21906983;21987572;21988832;22021906;22114277;22120720;22349825;22522453;22797925;22883624;22939624;23224638;23359356;23396968;23402259;23439680;23446420;23718855;24045153;24174471;24255178;24318287;24447338;24525231;2457390;24753582;3259291;7607695;7642615;7850771;7876252;8206685;8226978;8473314;8524286;8599832;8627654;8797824;8914829;9151826;9346882;9446795;9566925;9671211;9933579 5584 P41743 AB451443;ABBA01058685;ABBA01058686;ABBA01058687;AC023891;AC073288;AI521422;AK315342;AMYH02008115;AMYH02008116;AMYH02008117;BC022016;BC042405;BM767350;BQ014217;CH471052;CN412350;L18964;L33881;NM_002740 AAA60171;AAB17011;AAH22016;BAG37741;BAG70257;EAW78513;EAW78514;EAW78515;NP_002731;P41743 Hs.478199 1681064;1690878;1693462;1726161;1728589;1767547;1852199;2121714;5022450;5024761;5112646 D10S275;D3S3929;DXS7583;G62256;G63586;RH36905;RH65164;RH65381;SHGC-59107;SHGC-77518;SHGC-77522 DXS1179E;MGC26534;PKCI;nPKC-iota OTTHUMP00000196630;PRKC-lambda/iota;aPKC-lambda/iota;atypical protein kinase C-lambda/iota;protein kinase C iota type;protein kinase c, lambda APPROVED protein-coding ENSG00000163558 HGNC:9404 02105 600539 REVIEWED 1350580 PRKCQ protein kinase C, theta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008] 10 10 10 p15 6391714 6479754 - 6435558 6622254 - 6393596 6580301 - 1625613;1625625;1625124;1625603;1625604;1625605;1625610;1580863;5131489;6480464;6484113;6907045;8554872 10923637;11735277;15606904;17347799;19934406;8180127;8826977;9000691 10358153;10383400;10433554;10491200;10512725;10636891;10641798;10652356;10716728;10725744;10746729;10843712;10980603;11044099;11114301;11120819;11141237;11154208;11222731;11337467;11342610;11358993;11410591;11504923;11772397;11788586;11833470;11919157;11956228;12077322;12097375;12154370;12421956;12477932;12482669;12504004;12618484;12730099;12734410;12890684;14525764;14673152;14699138;14985240;14985363;15064353;15150272;15164054;15192100;15217944;15254234;15289315;15358536;15364919;15489334;15522211;15592506;15689238;15749850;15790681;15802604;15894802;16009340;16210616;16252004;16264271;16309697;16356855;16385451;16709830;16849481;16964635;17192257;17339328;17363905;17548359;17588663;17632570;17846228;17904606;18037997;18086904;18092356;18184679;18250452;1832084;18521081;18577246;18794853;18796635;18802085;18802089;18978792;19050260;19073967;19164598;19240061;19363595;19430480;19644859;19674979;1970444;19851296;19913121;19920073;19949911;20049410;20164171;20198315;20203524;20219786;20233754;20336759;20339032;20379614;20439292;20444755;20453842;20472553;20486122;20498205;20511557;20628086;20664063;20677014;20716167;21160038;21252065;21358619;2139676;21419345;21651489;2182321;21840039;21944869;22114277;22197035;22286759;22303480;22330070;22399613;22403784;22505724;22542470;22547057;22787157;22905394;22939624;23086478;23192428;23433459;23436678;23455922;23508266;23509302;23517042;23559827;23838604;23862765;24390342;24816145;24891615;24979806;3259291;7642615;7686153;7790001;7850771;7876252;8206685;8444877;8473314;8599832;8627654;8663223;8816492;8914829;8985252;9151826;9252332;9260867;9268366;9353339;9446795;9516463;9606192;9617893;9671211;9856983 5588 Q04759 AA234440;ABBA01034764;AI570478;AK293935;AK308099;AK312411;AL137145;AL158043;AMYH02022065;AMYH02022066;AMYH02022067;AU099414;AY702977;BC101465;BC113359;BC143222;BF592799;BX647657;CH471072;KF455200;L01087;L07032;NM_001242413;NM_001282644;NM_001282645;NM_006257;R40214;XM_005252496;XM_005252497;XM_006717465 AAA60101;AAA75571;AAI01466;AAI13360;AAU29340;ADR83239;BAG57313;EAW86392;EAW86393;EAW86394;NP_001229342;NP_001269573;NP_001269574;NP_006248;Q04759;XP_005252553;XP_005252554;XP_006717528 Hs.498570 1664323;1709070;1770327;1770999;2110677;2126647;2127054;2180397 D10S2139;PRKCQ_2384;RH68983;SHGC-34074;SHGC-36302;SHGC-85682;STS-R16896;STS-W72149 MGC126514;MGC141919;PRKCT;nPKC-theta OTTHUMP00000019053;protein kinase C theta type APPROVED protein-coding ENSG00000065675 HGNC:9410 02710 600448 VALIDATED 1351212 PRKD1 protein kinase D1 PRKD1 is a serine/threonine kinase that regulates a variety of cellular functions, including membrane receptor signaling, transport at the Golgi, protection from oxidative stress at the mitochondria, gene transcription, and regulation of cell shape, motility, and adhesion (summary by Eiseler et al., 2009 [PubMed 19329994]).[supplied by OMIM, Nov 2010] 14 14 14 q11 9911927 10263081 - 30045685 30396899 - 29576479 29927693 - 6480464;6484113;8554872 10092595;10092600;10412981;10523301;10561498;10831594;10843712;10856238;10867018;10965134;10998417;11044099;11081517;11114197;11154208;11549247;11641411;11741879;11833470;11884618;11903052;11919157;11948398;11978539;12223477;12393506;12482669;12505989;12628923;12637538;12646240;12778467;12859948;12893243;14550308;14607845;14743217;15003508;15024053;15093611;15123666;15146197;15367659;15383279;15623513;15695390;15728188;15738054;15755722;16005295;16006559;16166634;16539678;17024177;17389598;17442957;17492941;17570131;17591919;17635916;17703233;17804414;17979146;18029348;18059339;18239146;18259765;18283041;18332134;18440775;18577246;18602367;18641342;18694729;18703509;18829454;19011111;19029091;19029298;19135240;19173301;19176759;19211839;19243594;19258390;19329994;19416469;19458088;19548982;19567672;19581308;19655095;19767773;19794144;20082306;20160036;20174665;20336759;20363754;20444975;20477989;20621130;20677014;20857418;20935630;20940406;21081666;21087603;21139048;21148796;21189263;21482705;21651489;21680539;21726532;2182321;21832093;21848513;21890473;21993564;21996340;22095288;22100296;22188925;22217708;22226883;22228765;22245102;22260707;22276203;22475757;22664730;22791710;22855295;22939624;22975325;23148218;23178798;23251661;23382691;23621299;23669352;23688773;23846685;23926335;23950933;24828530;2984676;2987962;5668;8119958;8627654;8885868;8914829;9446795;9671211 5587 F8VZ98;F8WBA3;H0YHL5;H0YHS9;Q15139 ABBA01061384;ABBA01061385;ABBA01061386;ABBA01061387;ABBA01061388;ABBA01061389;ABBA01061390;AK314170;AL135858;AL355053;AL356756;AL445884;AMYH02028924;AMYH02028925;AMYH02028926;AMYH02028927;AMYH02028928;AMYH02028929;BX645735;CH471078;CN412379;DQ485452;KF455850;NM_002742;X75756;XM_005267859 AAI60015;ABE96833;BAG36853;CAA53384;EAW65970;EAW65971;NP_002733;Q15139;XP_005267916 Hs.508999 1337405;1684052;1715819;1717705;1721643;1752611;1788936;1796576;2127988;2151762;2165816;2169760;2191079 AFM207xb12;D14S1146;D14S252;G59832;MARC_14413-14414:1010075307:1;PRKCM_228;RH119606;RH121759;RH47598;SGC32910;SHGC-106490;STS-X75756;UniSTS:224841 PKC-MU;PKCM;PKD;PRKCM OTTHUMP00000178785;OTTHUMP00000211754;nPKC-D1;nPKC-mu;protein kinase C mu type;protein kinase C, mu;protein kinase D;serine/threonine-protein kinase D1 APPROVED protein-coding ENSG00000184304 HGNC:9407 05668 605435 VALIDATED 1353868 PRKD3 protein kinase D3 Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. This kinase can be activated rapidly by the agonists of G protein-coupled receptors. It resides in both cytoplasm and nucleus, and its nuclear accumulation is found to be dramatically enhanced in response to its activation. This kinase can also be activated after B-cell antigen receptor (BCR) engagement, which requires intact phopholipase C gamma and the involvement of other PKC family members. [provided by RefSeq, Jul 2008] 2 2 2 p21 37318598 37385166 - 37477645 37551915 - 37250502 37324772 - 6480464;8554872 10231560;10843712;11035810;11044099;11154208;11749387;11833470;11884598;11919157;12054501;12080077;12477932;12482669;12506120;12676944;14702039;14743217;15496505;15824133;16147992;16380377;16964243;17081983;17196367;17889508;18029348;19264651;19615732;20098747;20621130;20813660;20813663;21081666;21139048;2182321;21890473;21900206;21988832;22893698;22983445;23393329;23974872;24265314;24292274;24337579;8274451;8627654;8914829;9446795;9671211 23683 C9JKP8;H0Y5M6;H7C172;O94806 AA631772;AB015982;ABBA01074978;ABBA01074979;AC007390;AC007391;AK027585;AK122883;AMYH02003615;AMYH02003616;AW515068;BC012820;BC030706;BI262400;BQ051077;BU173084;CH471053;NM_005813;XM_005264237;XM_005264238;XM_006711978;XM_006711979;XM_006711980;Z25429 AAH30706;AAY14817;ADZ15743;BAA36514;BAG51354;CAA80916;EAX00398;EAX00399;NP_005804;O94806;XP_005264294;XP_005264295;XP_006712041;XP_006712042;XP_006712043 Hs.660757;Hs.716034 1647247;1687620;1695608;1796578;2120549;5022578;5037552;5093978 A009Z48;D1S1423;D8S2279;G33034;PRKCN_1354;RH94167;SHGC-68614;WI-17732 EPK2;PKC-NU;PKD3;PRKCN;nPKC-NU OTTHUMP00000126953;protein kinase C nu type;protein kinase C, nu;protein kinase EPK2;protein-serine/threonine kinase;serine/threonine-protein kinase D3 APPROVED protein-coding ENSG00000115825 HGNC:9408 06151 607077 REVIEWED 7206931 PRKG1-AS1 PRKG1 antisense RNA 1 10 10 10 47252779 47336934 - 54056608 54073888 - 52296848 52314128 - 12477932 100506939 ABBA01052510;AC009986;AC027118;AL928686;AMYH02023087;BC039504;BC050034;HG502911;NR_038277 Hs.584791;Hs.637806 1742251;2152592 GDB:193872;RH70960 RP11-573I11.2 ncrna HGNC:45029 VALIDATED 733228 PRKG2 protein kinase, cGMP-dependent, type II This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein plays a role in the regulation of fluid balance in the intestine. A similar protein in mouse is thought to regulate differentiation and proliferation of cells in the colon. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 4 4 4 q13.1-q21.1 79302549 79418932 - 82008643 82136271 - 81087370 81215117 - 1580863;6480464;6907045;8554872 10531334;11076863;11278298;12054676;12477932;12571245;12764134;15555551;16344560;16990611;18262053;18391951;18606955;18678579;19343178;19359370;19543319;19953087;20379614;22012247;22174851;22303795;22427012;22556146;22791569;22939624;22940826;23404188;23449627;23563607;23602568;23940030;6547441;7493990;7498513;7543493;8607838;9535793 5593 B4DLF9;B7ZA25;Q13237 ABBA01063411;ABBA01063412;AC098819;AC139722;AK296979;AK297673;AK316140;AMYH02009577;BF508892;CH471057;D70899;DA462272;DA569289;DB455792;DC348270;KF457787;NM_001282480;NM_001282481;NM_001282482;NM_001282483;NM_001282485;NM_006259;X94612;XM_005263126;XM_006714266 AAI11598;BAA18934;BAG59521;BAG60035;BAH14511;CAA64318;EAX05867;NP_001269409;NP_001269410;NP_001269411;NP_001269412;NP_001269414;NP_006250;Q13237;XP_005263183;XP_006714329 Hs.232044;Hs.570833;Hs.739943 1649111;2116606;2137391;2150498;2156890;2179230;2219566 AFM318ZC9;D4S1381;D4S299;PRKG2__5583;SHGC-51140;SHGC-51635;STS-X94612 PRKGR2;cGK 2;cGK2;cGKII OTTHUMP00000160807;cGMP-dependent protein kinase 2;cGMP-dependent protein kinase II;protein kinase, cgmp- dependent, type ii protein-coding ENSG00000138669 HGNC:9416 09034 601591 REVIEWED 1342931 PRKD2 protein kinase D2 The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 43981103 44023914 - 47177573 47220384 - 46674316 46717127 - 1580863;6480464 11042152;11062248;12058027;12477932;12646243;14702039;14743217;15231748;15604256;15623513;15975900;16083285;16344560;16899224;16928771;17077180;17081983;17121608;17192257;17570131;17951978;17962809;18059339;18262756;18440775;18758461;19001381;19192391;19430480;19520973;19581308;19615732;19913121;20332261;20553269;20628086;20731705;20732914;20855867;21081666;21139048;21173164;21736870;21865166;21890473;21900206;22217708;22734003;22939624;23251465;23393329;23515950;23562655 25865 M0QXC6;M0QZ82;M0QZC2;M0QZW1;M0R012;M0R2R2;M0R2Z8;M0R346;Q8NCK8;Q9BZL6 ABBA01040984;ABBA01040985;AC008635;AC093503;AF151021;AF309082;AK074673;AK075266;AK092896;AK095884;AK300339;AK303629;AL050147;AMYH02036233;AMYH02036234;AMYH02036235;AMYH02036236;BC015472;BC025307;CH471126;CQ783562;DA475821;KC877745;NM_001079880;NM_001079881;NM_001079882;NM_016457;XM_005258716 AAF36107;AAH15472;AAI56074;AAI56947;AAK01149;BAC11127;BAC11508;BAG53158;BAG62084;BAG64637;CAB43292;CAF86729;EAW57441;NP_001073349;NP_001073350;NP_001073351;NP_057541;Q9BZL6;XP_005258773 Hs.466987 1773637;2132443;7186133 A006X30;D19S1076 HSPC187;PKD2;nPKC-D2 serine/threonine-protein kinase D2 APPROVED protein-coding ENSG00000105287 HGNC:17293 09523 607074 REVIEWED 1322442 PRKG1 protein kinase, cGMP-dependent, type I Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011] 10 10 10 q11.2 46013603 47318321 + 52750911 54058110 + 50991151 52298350 + 1580863;6480464;6484113;6907045;7775057;7775058;7775062;7775064;7775067;7777130;7775056;7777114;7775060;7777120;7777110;7775065;8699517;7240710;8554872 12384231;14512447;14973199;15939056;17355372;18332860;19845676;20186099;20463352;22270721;23454089;24012634 10051666;10449420;10567269;10601315;10671526;10681529;10724174;10851246;10922374;11175347;11278298;11278415;11309393;11884369;12082086;12082111;12119292;12175859;12237340;12477932;12480535;12571245;12574812;12609995;12855709;12933804;1377674;14530262;14532276;14608379;14679200;14702039;14983059;15051728;15107017;15164054;15192100;15280395;1544322;15489334;15556942;15632203;15711749;15851553;15917860;16131665;16166082;16249377;16331690;16344560;16385451;16407222;16632465;16990611;17601797;17904578;17975119;18029348;18194177;18496125;18519826;18593937;18617565;18757735;18782776;18945831;18983522;19023099;19023132;19424179;19487814;19656393;19851296;19913121;19961855;19996273;20006992;20043968;20068229;20182759;20198315;20348951;20371672;20379614;20567233;20600009;20628086;20732627;20826808;21160032;21402151;21414799;21451103;21479273;21526164;21563174;2168396;21697861;21907864;22095901;22293199;22580283;22791569;22806632;23066013;23195829;23251661;23382691;23404188;23416533;23418348;23686857;23770744;23793025;23814119;23831687;23876037;23910461;24060892;24060898;24163370;24239458;24469460;2792381;7589584;8132598;8182057;8380342;8613202;8663267;8688081;9192852;9308888;9687510;9829964 5592 B1ALS0;Q13976;Q5SQU3 ABBA01052494;ABBA01052495;ABBA01052496;ABBA01052497;ABBA01052498;ABBA01052499;ABBA01052500;ABBA01052501;ABBA01052502;ABBA01052503;ABBA01052504;ABBA01052505;ABBA01052506;ABBA01052507;ABBA01052508;ABBA01052509;ABBA01052510;AC009986;AC022025;AC022537;AC026228;AC027118;AC068062;AC069079;AC073584;AK093436;AK300110;AK313416;AL157399;AL391378;AL596105;AL599933;AL607031;AL731537;AL928686;AMYH02023060;AMYH02023061;AMYH02023062;AMYH02023063;AMYH02023064;AMYH02023065;AMYH02023066;AMYH02023067;AMYH02023068;AMYH02023069;AMYH02023070;AMYH02023071;AMYH02023072;AMYH02023073;AMYH02023074;AMYH02023075;AMYH02023076;AMYH02023077;AMYH02023078;AMYH02023079;AMYH02023080;AMYH02023081;AMYH02023082;AMYH02023083;AMYH02023084;AMYH02023085;AMYH02023086;AMYH02023087;BC062688;BC127090;BQ445850;BX097700;BX952280;CD723759;CH471083;D45864;DA150150;DA646702;DA915933;DB138350;DC310312;DC379897;DC381245;EF560730;KF455236;NG_029982;NM_001098512;NM_006258;XM_005269970;XM_005269971;XM_005269972;Y07512;Z92867;Z92868 AAH62688;AAI27091;ABQ59040;ACT64369;ACT64370;BAA08297;BAG52715;BAG61905;CAA68810;CAB07436;CAB07437;EAW54140;EAW54141;NP_001091982;NP_006249;Q13976;XP_005270027;XP_005270028;XP_005270029 Hs.407535 1336781;1341352;1645600;1659871;1660955;1665921;1668135;1706742;1707584;1708126;1712006;1712591;1714333;1716245;1717933;1742251;1749817;1750197;1752655;1752859;1766999;1777997;1781924;1848728;1850668;2114332;2123772;2134762;2135864;2141145;2146591;2150729;2152592;2162299;2219564;7185445;7187812 AFM308XA9;D10S1195;D10S1458;D10S2283;D10S2341;D10S567;D10S568;G09557;G10176;G17455;G17500;GDB:193872;PRKG1__5582;RH118458;RH119946;RH120304;RH121149;RH122793;RH46235;RH70960;SHGC-106527;SHGC-106825;SHGC-111555;SHGC-111919;SHGC-112296;SHGC-152619;SHGC-36560;SHGC-80830;SHGC-81463;SHGC-84604;STS-H95359;STS-H95817;STS-H97927;WI-11512;WI-15606 1;AAT8;CGKI;DKFZp686K042;FLJ36117;MGC71944;PGK;PKG;PRKG1B;PRKGR1B;cGK;cGK 1;cGK1;cGKI-BETA;cGKI-alpha OTTHUMP00000019618;OTTHUMP00000019619;cGMP-dependent protein kinase 1;cGMP-dependent protein kinase I;protein kinase, cGMP-dependent, regulatory, type I, beta APPROVED protein-coding ENSG00000185532 HGNC:9414 08910 176894;615436 REVIEWED 1625087 PRKRAP1 protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene 1 6 6 6 28308200 28309961 - 3945890 3947494 + 3940270 3941874 + 21048031 731716 ABBA01028477;BX649210;CR933540;NG_023048 1679872;1688769;1734818;2165133;2165135 A005Y08;D2S1579E;G20590;RH47285;RH98579 pseudo HGNC:33447 INFERRED 1320068 PRKCSH protein kinase C substrate 80K-H This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 19 19 19 p13.2 11441004 11456521 + 11546111 11561783 + 11435257 11450968 + 1599188;1580863;6480464;6907045;7240710;8554872;8699517 12529853 10684806;1076483;10764837;10764838;10929008;11047756;12477932;12577059;12586822;12665801;12841677;15057895;15133510;15188177;15342556;15489334;15707389;16169070;16344560;16835903;18224332;18303019;18419150;18990696;19061073;19308730;19801576;20000738;20095989;20360068;20408955;20490454;21139048;21371016;21681021;21856269;21890473;21900206;21963094;21988832;22190034;2241894;22863883;22939629;23209713;23326178;23644164;23862649;24244333;24583282;24654937;24816145;2793184;8125298;8895530;8910335;9043864;9148925;9846883 5589 B4DJQ5;K7EIP3;K7EJ70;K7EKX1;K7EL27;K7ELL7;K7EPW7;P14314 ABBA01029852;ABBA01029853;ABBA01029854;ABBA01029855;AC008481;AC024575;AF144075;AK130663;AK225279;AK225390;AK290433;AK296187;AMYH02035530;BC013586;BC015154;BC128412;BF984334;BG323695;BI254784;BP242217;BT009858;CF618983;CH471106;DB024838;HY029996;HY051935;J03075;NG_009300;NM_001001329;NM_001289102;NM_001289103;NM_001289104;NM_002743;U50326;XM_006722795;XM_006722796;XM_006722797;XM_006722798;XR_430144;Z36798 AAA52493;AAA98668;AAF66686;AAH13586;AAH15154;AAI28413;AAP88860;BAF83122;BAG58917;EAW84215;EAW84216;EAW84217;EAW84218;EAW84219;NP_001001329;NP_001276031;NP_001276032;NP_001276033;NP_002734;P14314;XP_006722858;XP_006722859;XP_006722860;XP_006722861 Hs.610830 1677352 RH79661 AGE-R2;G19P1;PCLD;PKCSH;PLD1 AGE-binding receptor 2;glucosidase 2 subunit beta;glucosidase II subunit beta;glucosidase II, beta subunit;hepatocystin;protein kinase C substrate 60.1 kDa protein heavy chain;protein kinase C substrate, 80 Kda protein APPROVED protein-coding ENSG00000130175 HGNC:9411 03518 174050;177060 REVIEWED 5128747 PRKRIRP1 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 1 X X X q13.2 73900133 73902810 - 73616707 73619385 - 74396872 74399550 - 728748 ABBA01059569;ABBA01059570;AC004073;AL138891;AMYH02039780;NG_022612 pseudo HGNC:39563 INFERRED 1320154 PRKRIR protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of cell proliferation (inferred); signal transduction (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; methyl methanesulfonate; valproic acid 11 11 11 q13.5 73368809 73399688 - 76061004 76091880 - 76349960 76380836 - 1580863;6480464 10542257;11555640;12384512;12477932;14695705;14702039;15489334;1677563;18029348;20588308;20628624;21139048;21906983;21910972;24255178;24778252;8576172;9447982;9819435 5612 B4DS64;E9PSI2;O43422 ABBA01017449;ABBA01017450;AF007393;AF081567;AK001522;AK291843;AK299594;AL049970;AMYH02025127;AP002360;BC021992;BC110304;BC117138;BC117140;BX641144;CH471076;NM_004705 AAC39564;AAG01570;AAH21992;AAI10305;AAI17139;AAI17141;ADR83399;BAF84532;BAG61526;CAB43226;EAW74991;EAW74992;EAW74993;NP_004696;O43422 Hs.503315 1851561;5016478;5019847;5024756;5037552;5124907 A008B11;D8S2279;G34946;GDB:434012;RH66969;RH80030 DAP4;MGC102750;P52rIPK;THAP0;THAP12 52 kDa repressor of the inhibitor of the protein kinase;58 kDa interferon-induced protein kinase-interacting protein;OTTHUMP00000229232;THAP domain containing 12;THAP domain-containing protein 0;death-associated protein 4;inhibitor of protein kinase PKR;p58IPK-interacting protein protein-coding ENSG00000137492 HGNC:9440 09567 607374 PROVISIONAL 5129376 PRKRIRP10 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 10 13 13 13 30862895 30864420 + 49807010 49808535 + 49232874 49234399 + 100422715 ABBA01051015;AL137000;NG_024925 pseudo HGNC:39741 INFERRED 5128955 PRKRIRP2 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 2 3 3 3 86808459 86811217 + 86061711 86064469 + 86012561 86015319 + 100422711 ABBA01031089;AC107024;AMYH02007196;NG_025711 pseudo HGNC:39566 INFERRED 1316893 PRKRIP1 PRKR interacting protein 1 (IL11 inducible) ENCODES a protein that exhibits double-stranded RNA binding (ortholog); protein kinase binding (ortholog); protein kinase inhibitor activity (ortholog); INVOLVED IN renal system process; negative regulation of phosphorylation (ortholog); negative regulation of protein kinase activity (ortholog); FOUND IN extracellular vesicular exosome; nucleolus (ortholog); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; copper(2+) sulfate 7 7 7 q22.1 97049115 97079410 + 102036804 102067129 + 102396357 102426682 + 737633;6480464 12477932 12679338;14702039;15146077;16189514;16344560;19056867;21832049;24816145 79706 E9PC43;Q9H875 ABBA01011285;ABBA01011286;ABBA01011287;AC073517;AC093668;AK023964;AK097289;AK124753;AK294664;AL833837;AMYH02016437;BC014298;CA866825;CH471197;DA227367;NM_024653 AAH14298;ABM84094;ABM87465;BAB14742;BAG57833;CAD38697;EAW50241;EAW50242;EAW50243;NP_078929;Q9H875 Hs.722104 1699418;2125069;2219568;5022322;5491455 D11S2560;MARC_13815-13816:1025293742:3;PRKRIP1__5584;RH103300;SHGC-57563 C114;FLJ13902;FLJ40957;KRBOX3 KRAB box domain containing 3;OTTHUMP00000212401;OTTHUMP00000212403;PRKR-interacting protein 1;likely ortholog of mouse C114 dsRNA-binding protein protein-coding ENSG00000128563 HGNC:21894 11460 VALIDATED 1319072 PRKDC protein kinase, DNA-activated, catalytic polypeptide This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010] 8 8 8 q11 44671051 44858151 - 48685669 48872743 - 47773108 47960183 - 1580863;1599202;5133270;6480464;6484113;6907045;8662352;8554872 19478084;20192759;9122213 10026262;10064605;10207052;10213687;10441130;10446239;10464290;10467406;10470151;10547363;10567342;10608806;10673501;10713094;10747897;10750018;10823961;10951572;11000264;11030616;11070027;11101529;11158303;11160753;11279128;11406603;11418067;11551930;11709713;11731442;11739746;11749722;11790298;11801738;11867762;11883897;11889123;11904432;11955432;12023295;12065055;12065431;12171929;12186630;12231622;12379113;12393188;12477932;12509254;12519782;12547193;12672807;12750264;12756247;12897153;14556663;14612514;14627815;14654699;14704337;14734805;14744996;14766968;14966265;15071507;15123719;15140983;15147269;15161933;15163725;15190070;15194694;15258142;15262962;15279776;15286704;15302935;15313891;15324660;15353130;15377652;15381073;15385968;15389585;15456891;15493013;15520013;15574326;15592499;15613478;15634916;15635413;15640154;15664519;15668230;15668400;15671175;15677476;15678105;15698568;15723802;15758953;15811628;15875659;15936993;1597196;16000298;16000400;16001975;16046194;16075307;16166097;16196087;16221682;16226712;16263121;16314509;16335966;16397295;16449650;16510122;16520097;16540648;16541024;16565220;16566590;16600297;16603769;16713581;16751065;16759233;16785234;16794079;16857680;16874298;17081983;17110338;17148452;17189255;17196815;17213819;17241822;17242407;17287830;17308091;17314511;17389609;17389650;17400507;17441731;17526517;17593081;17626748;17764108;17786318;17786349;17932067;17963495;17991316;18026119;18158334;18160036;18172300;18246802;18247557;18258596;18270197;18303054;18406329;18415044;18422577;18426604;18449888;18451257;18505846;18508926;18550272;18644470;18644989;18710952;18728186;18781797;18789131;18799040;18922151;18950845;18952587;18957425;19021771;19071136;19074885;19075392;19092295;19144640;19181665;19198648;19224683;19237606;19270065;19303849;19322201;19341095;19351595;19380743;19394292;19444312;19451221;19467273;19573080;19589246;19596686;19624897;19661379;19666485;19672258;19697154;19738201;19773279;19781633;19805454;19815090;19826009;19833092;19851285;19918261;19946888;20003485;20023628;20065038;20080577;20085707;20111054;20157594;20204287;20205745;20219974;20356835;20360068;20371770;20379614;20394854;20427287;20479123;20496165;20504901;20522537;20562859;20590474;20610542;20618440;20668194;20711232;20801936;20813000;20878914;20936779;20966071;20972425;21037379;21042724;21075794;21081666;21108935;21139048;21145461;21151955;21175350;21182205;21188139;21209461;21214942;21300785;21319273;21330363;21346760;21415862;21450944;21487018;21504906;21549307;21559021;21565611;21575865;21576354;21671477;21679440;21693764;21723633;21731742;21750982;21773671;21775006;21875946;21890473;21905307;21906983;21907836;21941773;21963094;21969602;21979916;21987572;22009179;22027841;22040967;22053931;22131882;22139836;22145905;22174317;22184063;22190034;22190353;22198295;22242598;22268729;22298787;22310661;22332739;22337587;22343725;22366412;22404984;2247066;22499342;22505724;22586326;22623428;22634101;22751105;22753480;22815474;22825692;22863883;22923485;22939629;22952844;23000965;23001845;23022380;23098447;23098854;23108991;23125841;23183621;23184344;23204796;23322783;23325550;23325849;23329831;23392706;23398456;23438482;23443559;23449453;23455922;23464991;23505488;23603433;23678292;23722905;23739328;23739334;23752268;23775790;23798571;23824909;23862649;23897887;23956138;24013362;24085291;24136149;24187467;24220101;24250222;24255178;24321564;24332808;24337577;24365180;24429382;24457600;24485452;24530422;24583282;24591637;24639526;24657168;24816145;24979766;25015289;25027693;2507541;7594449;7638222;7671312;8364539;8407951;8422676;8464713;8760815;8804412;8917110;9035691;9038175;9139719;9284934;9295339;9312071;9325337;9362500;9363941;9372844;9398855;9430729;9435225;9442054;9488450;9525578;9586635;9632806;9679063;9722660;9748231;9765199;9766667;9774685;9914162 5591 E7EUY0;F5GX40;H0YG84;P78527 AB052953;AB208860;ABBA01041640;ABBA01041641;ABBA01041642;ABBA01041643;AC021236;AC103686;AK296833;AMYH02017943;AMYH02017944;AY030284;AY316117;BC017494;BC024963;BC037968;CH471068;KF511073;L27425;NG_023435;NM_001081640;NM_006904;U34994;U35835;U47077;U63630;U90415 AAA79184;AAA79244;AAB39925;AAB51722;AAC50210;AAC52019;AAK40350;AAP69525;BAB79635;BAD92097;BAG59403;EAW86680;EAW86681;EAW86682;EAW86683;NP_001075109;NP_008835;P78527 Hs.491682 1717093;1734114;1735736;1771558;1771720;1792274;1792276;1792278;1792280;1794906;1798020;2128311;2140364;2147263;2152439 BCD1153;D8S1212;D8S1353E;D8S485;EST197660;G29848;PMC140533P4;PMC140533P5;PMC140533P6;PMC140533P7;PMC84245P1;PRKDC_2296;RH121464;RH69034;STS-N27515 DNA-PKcs;DNAPK;DNPK1;HYRC;HYRC1;IMD26;XRCC7;p350;p460 DNA-PK catalytic subunit;DNA-dependent protein kinase catalytic subunit;hyper-radiosensitivity of murine scid mutation, complementing 1 APPROVED protein-coding ENSG00000253729 HGNC:9413 02941 600899;615966 REVIEWED 5129010 PRKRIRP3 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 3 10 10 10 q21.1 47433935 47436295 + 54170895 54173255 + 52411135 52413495 + 399774 ABBA01052512;AC009986;AMYH02023087;NG_022179 pseudo HGNC:39567 INFERRED 736361 PRKCZ protein kinase C, zeta Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p36.33-p36.2 476373 611123 - 1981909 2116834 + 2050470 2185395 + 1581275;1580863;1642650;1642528;2298729;5132275;5131661;5131489;6480464;6484113;6907045 12882908;12960081;16525119;16900949;17658244;19934406;20570724 10022904;10085094;10195894;10212259;10339425;10356400;10357815;10383403;10477520;10491200;10491320;10527887;10617144;10620507;10636891;10641798;10733591;10747026;10764587;10764742;10770950;10770953;10779355;10831594;10843712;11016947;11035106;11044099;11053446;11063744;11141237;11145703;11154208;11158308;11222751;11260256;11381116;11462174;11481324;11504923;11535599;11585925;11684013;11723139;11739185;11740573;11755531;11765038;11781095;11788586;11833470;11919157;11937546;11960776;12021260;12056906;12093536;12105221;12134071;12139760;12162751;12223351;12223477;12234671;12242277;12244101;12435813;12459187;12477932;12482669;12493764;12551925;12671055;12748064;12774026;12783114;12791393;12813044;12881425;12882907;12887891;12893243;12900386;12905622;12905768;12920244;12970910;14500673;14560023;14570876;14576165;14654844;14676191;14697253;14699138;14702039;14744756;15003508;15069075;15081397;15143057;15159477;15172966;15210811;15254234;15285019;15313379;15358551;15362041;15381704;15489334;15499829;15526032;15544481;15604116;15630457;15665819;15689238;15707389;15721486;15761148;15808853;15870274;15887250;15894802;15935276;15956717;16011831;16287866;16344560;16407220;16611744;16644736;16710414;16712791;16792529;16798739;16931574;16940160;16943418;17024099;17081983;17101696;17203073;17313651;17335965;17346701;17369850;17389234;17398070;17446166;17525161;17541951;17544492;17588663;17682059;17786270;17850789;17850925;17893151;17906294;18050214;18067888;18094075;18166155;18190796;18258854;18296444;18313384;18319301;1832084;18321849;18343365;18353613;18354190;18385757;18571841;18577246;18615853;18650932;18668687;18760839;18989463;19033536;19056867;19061073;19086264;19164129;19187446;19201988;19304661;19339512;19363595;19380829;19460843;19502590;1970444;19751727;19809379;19812540;19913121;19920073;20236250;20236512;20336759;20368287;20407013;20416077;20417648;20463008;20501645;20538799;20628086;20679531;20844151;20881960;20936779;20941506;20949042;20974803;20979579;21081127;21107309;21131967;21139048;21315177;21390241;2139676;21454526;21549621;21619587;21624955;21645497;21651489;21667320;21780947;2182321;21849550;21871968;21895402;21900206;21911421;22114277;22231931;22242160;22324796;22390153;22475628;22475757;22505724;22610405;22644296;22740332;22750245;22791907;22812606;22939624;23004934;23023376;23266528;23349801;23374352;23402259;23868949;24015205;24447338;24753582;3259291;7522330;7588787;7642615;7850771;7876252;7925449;8089108;8206685;8206971;8224878;8375396;8473314;8599832;8621384;8627654;8663071;8797824;8856079;8914829;8940095;9151826;9305920;9388266;9446795;9455484;9512493;9566925;9671211;9689078;9748166;9756852;9768361;9971736 5590 D6RAN5;D6RAU1;D6RBD4;D6RC84;D6RCN4;D6RD31;D6RDM0;D6REZ8;D6RG01;D6RGG1;D6RJG4;E9PBE1;F2Z2H9;F2Z3C5;J3KRP7;Q05513 AB007974;ABBA01016083;ABBA01016084;ABBA01016085;ABBA01016086;AK097627;AK131526;AK290995;AK294649;AK294782;AK302160;AK310372;AL162271;AL391845;AL542576;AL590822;AL645703;AMYH02000116;AU134793;BC008058;BC014270;BT007082;CB152283;CH471183;DC312466;L14283;NG_029616;NM_001033581;NM_001033582;NM_001242874;NM_002744;XM_006710764;XM_006710765;XM_006710766;XM_006710767;XM_006710768;Z15108 AAA36488;AAH08058;AAH14270;AAP35745;ABM83855;ABM84848;ABM87177;BAF83684;BAG53497;BAH11833;BAH11883;BAH13641;CAA78813;EAW56130;EAW56131;NP_001028753;NP_001028754;NP_001229803;NP_002735;Q05513;XP_006710827;XP_006710828;XP_006710829;XP_006710830;XP_006710831 Hs.496255 1667480;1673340;1722539;1758115;1850765 G60196;SHGC-147428;SHGC-33169;SHGC-74092;SHGC-74107 PKC-ZETA;PKC2 OTTHUMP00000001368;OTTHUMP00000196802;OTTHUMP00000220759;OTTHUMP00000220762;nPKC-zeta;protein kinase C zeta type APPROVED protein-coding ENSG00000067606 HGNC:9412 01504 176982 REVIEWED 5128954 PRKRIRP7 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 7 8 8 79671980 79674666 - 78759745 78762431 - 100422712 ABBA01004082;AC083837;AMYH02018272;NG_026040 pseudo HGNC:39574 INFERRED 5128996 PRKRIRP4 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 4 11 11 11 p14.3 23636599 23638961 + 23499614 23501976 + 23478068 23480430 + 100129382 ABBA01061007;AC100767;AMYH02024447;NG_021813 pseudo HGNC:39568 INFERRED 5128998 PRKRIRP6 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 6 13 13 13 q12.13 7876582 7879498 + 26808350 26811266 + 26234213 26237129 + 100128764 ABBA01007913;AL138966;AMYH02027730;NG_011462 pseudo HGNC:39570 INFERRED 6481410 PRKX-AS1 PRKX antisense RNA 1 p22.33 100873944 AC007685;AW118832;HG512415;NR_046643 APPROVED ncrna HGNC:40479 VALIDATED 5129006 PRKRIRP8 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 8 1 1 1 q43 214189390 214191503 - 240932721 240934834 - 240769421 240771534 - 645939 ABBA01033239;AL365184;AMYH02003028;NG_022760 1651229;1796688;2122930;2166400 G29229;G34863;RGS7_1815;SHGC-32119 pseudo HGNC:39572 INFERRED 1315476 PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] 2 2 2 q31.2 172899027 172918844 - 179296141 179315958 - 178431414 178451231 - 1580863;6480464;6484113;7240710;7777146;7777145;8554872;8699517 21897745;22961479 10336432;11230166;11238927;11256614;11526399;11985496;12368348;12477932;12874289;14702039;15299031;15489334;15815621;16169070;16424907;16861340;16982605;17081983;17125937;17353931;17452327;18243799;18420150;18936160;19441135;19580324;19604093;19913121;19946888;20379614;20468071;20588308;20628086;20628624;21139048;21145461;21501829;21526770;21595004;21790829;21882225;21900206;21903422;21988832;22025453;22214662;22473766;22505724;22586326;22990118;23125841;23455922;23472185;23550157;23602568;23658827;23661684;23844083;23870315;24020926;24025624;24067967;24457600;24522921;24778252;24816145;24899174;24939934;8125298;9010216;9687506 8575 B4DJC7;C9JMM3;F8WEG8;G5E9Q4;O75569 ABBA01062244;AC009948;AF072860;AF083033;AK093360;AK223107;AK290601;AK296019;AL136615;AL833867;AMYH02005325;AY251164;BC009470;BG827125;BT007243;CH471058;CR533525;NG_009053;NM_001139517;NM_001139518;NM_003690;XM_005246921 AAC25672;AAD33099;AAH09470;AAP20061;AAP35907;AAX88882;ACE86553;ACE87235;BAD96827;BAF83290;BAG58789;CAB66550;CAD38725;CAG38556;EAX11034;EAX11035;EAX11036;EAX11037;NP_001132989;NP_001132990;NP_003681;O75569;XP_005246978 Hs.570274 1649803;1679872;1698952;1734818;2160053;2165133;2165135;2171372;2171374;2171804 A005A41;A005Y08;D2S1579E;G20228;G20590;RH103045;RH16629;RH47285;RH65973;SGC32052 DYT16;HSD14;PACT;RAX OTTHUMP00000163394;OTTHUMP00000205652;OTTHUMP00000225032;PKR-associated protein X;PKR-associating protein X;interferon-inducible double stranded RNA-dependent protein kinase activator A;interferon-inducible double-stranded RNA-dependent protein kinase activator A;protein activator of the interferon-induced protein kinase;protein kinase, interferon-inducible double stranded RNA-dependent activator;protein kinase, interferon-inducible double-stranded RNA-dependent activator APPROVED protein-coding ENSG00000180228 HGNC:9438 04573 603424;612067 REVIEWED 1353983 PRKX protein kinase, X-linked This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010] X X X p22.3 7803269 7912726 - 3522384 3631675 - 3604343 3713634 - 1580863;6480464;6907045;8554872 10026146;12082174;12477932;15489334;15879576;16491121;17980165;18187620;19576564;19953087;21684272;21971312;22020623;22939624;24816145;7633447;9154127;9302280;9860982 5613 P51817 ABBA01044324;ABBA01044325;ABBA01044326;ABBA01044327;ABBA01044328;ABBA01044329;ABBA01044330;ABBA01044331;ABBA01044332;ABBA01044333;ABBA01044334;ABBA01044335;ABBA01044336;ABBA01044337;ABBA01044338;ABBA01044339;ABBA01044340;ABBA01044341;ABBA01044342;AC007685;AMYH02038727;AMYH02038728;AMYH02038729;AMYH02038730;AMYH02038731;BC041073;BE675757;CH471074;DN996851;DN997580;HI635309;NG_016716;NM_005044;X85545;XM_005274560;XM_005274561 AAH41073;ACE86927;ACE87614;CAA59733;CBX55118;EAW98726;EAW98727;EAW98728;NP_005035;P51817;XP_005274617;XP_005274618 Hs.390788 1682788;1728903;1760311;1798024;2116093;2180174;2187146;5015404;5015621;5015961;5020740;5024413;5037552;5112659 D11S3732;D15S1477;D8S2279;DXS1121;DXS7603;G42689;L17705;L17809;L17877;PRKX_2247;RH47892;RH70931;SHGC-31633;SHGC-3948 PKX1 OTTHUMP00000022861;OTTHUMP00000022862;cAMP-dependent protein kinase catalytic subunit PRKX;protein kinase PKX1;protein kinase X;protein kinase X-linked;serine/threonine-protein kinase PRKX APPROVED protein-coding ENSG00000183943 HGNC:9441 02097 300083 REVIEWED 5128997 PRKRIRP5 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 5 6 6 6 p24.2 12742899 12745096 + 11514425 11516622 + 11514192 11516389 + 100129074 ABBA01022103;AL445430;AMYH02013105;NG_022344 pseudo HGNC:39569 INFERRED 1353247 PRKXP2 protein kinase, X-linked, pseudogene 2 X X q13.1 69098181 69098580 - 69878345 69878744 - 5615 AF003528;AMYH02039652;FO393403;NG_032178 pseudo HGNC:9443 INFERRED 1351417 PRKXP1 protein kinase, X-linked, pseudogene 1 INTERACTS WITH valproic acid 15 15 15 q26.3 77510206 77513144 - 101087957 101099488 - 100547752 100559283 - 6480464 14702039;9154127 441733 ABBA01020536;AC027020;AK095793;AMYH02031161;NR_073405;Y10481;Y10483 Hs.12250 1335905;1652801;1760311;1762101;5015961;5112659 D15S1477;D15S87;DXS1121;SHGC-146001;SHGC-31633;STS-N39117 pseudo HGNC:9442 VALIDATED 5128994 PRKRIRP9 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 9 4 4 4 p12 45775461 45778246 - 45325268 45328045 - 45323251 45326028 - 100131309 ABBA01014314;AC108026;AMYH02009144;NG_022010 pseudo HGNC:39573 INFERRED 1352450 PRLH prolactin releasing hormone ENCODES a protein that exhibits hormone activity (inferred); neuropeptide hormone activity (inferred); prolactin-releasing peptide receptor binding (inferred); INVOLVED IN autonomic nervous system development (inferred); energy reserve metabolic process (inferred); fat cell differentiation (inferred); PARTICIPATES IN obesity disease pathway; ASSOCIATED WITH Obesity (ortholog); FOUND IN cytoplasm (inferred); extracellular region (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; ammonium chloride (ortholog) 2 2 2 q37.3 232189067 232189668 + 238475217 238475818 + 237566574 237567175 + 729520;1580863;1641829;6480464 15854142;9607765 10475064;10498338;10599733;11030716;11523913;12126742;12477932;15489334;15891064 51052 P81277;Q53QV7 AB015419;ABBA01042587;AC104667;AMYH02006065;BC069081;BC069284;CH471063;NM_015893 AAH69081;AAH69284;AAY24046;BAA29027;EAW71117;NP_056977;P81277 Hs.247710 5492471 UniSTS:481218 PRH;PRRP OTTHUMP00000164414;preproprolactin-releasing peptide;prolactin-releasing hormone;prolactin-releasing peptide protein-coding ENSG00000071677 HGNC:17945 04046 602663 PROVISIONAL 1351248 PRKY protein kinase, Y-linked, pseudogene This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromosome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010] Y Y Y p11.2 1967088 2074677 - 7142013 7249588 + 7273972 7381547 + 1580863;6480464;8554872 12477932;12815422;15489334;19474452;22939624;24816145;7633447;9088640;9154127;9302280;9889101 5616 O43930 AA767129;ABBA01034807;ABBA01034808;ABBA01034809;ABBA01034810;ABBA01034811;ABBA01034812;ABBA01034813;ABBA01034814;ABBA01034815;ABBA01034816;ABBA01034817;ABBA01034818;AC007284;AC010143;AI929361;BC074851;BC074852;BG698237;CH471163;NR_028062;Y10484;Y10485;Y13927;Y15801 AAH74851;AAH74852;CAA71508;CAA71509;CAA74244;CAA75792;EAW59124;EAW59125;O43930 Hs.584730 1688122;1731098;1798024;2113602;2116093;2156608;2188249;2188971;2188973;5015404;5020740;5021228;5022867;5024413;5095338;5095340;5095342;5095344;5110447;5116856;5116858;5116860;5116862 D10S300;DYS264;G66010;G66013;G66298;GDB:312794;L17705;L17809;L17877;PRKX_2247;PRKY-2;PRKY-3;PRKY-4;PRKY-5;PRKY-7;RH69540;SHGC-3948;sY1319;sY1817;sY3218;sY3219;sY3220;sY3221 PRKXP3;PRKYP APPROVED pseudo ENSG00000099725 HGNC:9444 08949 400008 REVIEWED 732732 PRLHR prolactin releasing hormone receptor PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM, Mar 2008] 10 10 10 q26.13 114083566 114085810 - 120352916 120355160 - 118593404 118595648 - 633970;1580863;1641829;1641832;6480464;8554872 14691196;15854142;8666380 10475064;10498338;11030716;11641419;11923475;12126742;12417311;12477932;12716769;15123239;15164054;15489334;15752583;15885496;16344560;19913121;20628086;22158540;22778259;23284171;9607765 2834 A5JUU5;P49683 AB015745;AB048946;ABBA01062932;AK290461;AK313269;AL356865;AL528009;AMYH02023894;BC095539;BC101490;BC101492;BX471829;CH471066;DA262254;EF577402;NM_004248;U32672 AAC50504;AAH95539;AAI01491;AAI01493;ABQ52422;BAA31159;BAB83030;BAF83150;BAG36078;EAW49413;EAW49414;NP_004239;P49683 Hs.248119 1769110;1797592;5491724;5492559;5493515 GPR10_2105;PRLHR;RH71223;UniSTS:481643;UniSTS:486969 GPR10;GR3;MGC126539;MGC126541;PrRPR;hGR3 G protein-coupled receptor 10;G-protein coupled receptor 10;OTTHUMP00000020584;prRP receptor;prolactin releasing peptide receptor;prolactin-releasing hormone receptor;prolactin-releasing peptide receptor APPROVED protein-coding HGNC:4464 02937 600895 VALIDATED 737276 PRM2 protamine 2 Protamines are the major DNA-binding proteins in the nucleus of sperm, and package the DNA in a volume less than 5% of a somatic cell nucleus (summarized by Cho et al., 2001 [PubMed 11326282]). See PRM1 (MIM 182880).[supplied by OMIM, Jul 2010] 16 16 16 p13.2 11538883 11539727 - 11369493 11370337 - 11275636 11276480 - 1580863;6480464 10659848;10898591;11326282;11686187;11869379;12477932;12524352;12569175;15342556;15489334;15670415;16344560;16632464;16989827;17011555;17113348;18292840;18292846;18309899;18314125;18478156;18692784;1889406;1907596;19602509;19863670;20378615;2081589;21029114;21317160;22104739;22190364;22472940;23271023;23568457;2370044;2384091;3403514;3412906;3527226;3956509;7714151;7983046;8024562;8513794;9239704;9282840;9795985 5620 P04554;Q1LZN1 AB281137;ABBA01006810;AC009121;AF215713;AK130957;AK131573;AK292447;AK307320;AK311798;AMYH02031463;BC005303;BC042671;BC066338;BP368978;BP371180;CH471112;DB066857;DB066922;M60332;NM_001286356;NM_001286357;NM_001286358;NM_001286359;NM_002762;NR_104428;U15422;X07862;Z46940 AAA63250;AAC50487;AAF34632;AAH05303;AAH42671;AAH66338;ADZ15653;BAD18705;BAF36638;BAF85136;BAG34741;CAA30710;CAA87066;EAW85158;EAW85159;NP_001273285;NP_001273286;NP_001273287;NP_001273288;NP_002753;P04554 Hs.2324 1643876;1792446;5117146 GDB:438999;PMC151395P1;SHGC-12339 CT94.2;FLJ27447 cancer/testis antigen family 94, member 2;protamine-2;sperm histone P2;sperm protamine P2 APPROVED protein-coding ENSG00000122304 HGNC:9448 01691 182890 VALIDATED 1345034 PRM3 protamine 3 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN cell differentiation (inferred); chromosome condensation (inferred); multicellular organismal development (inferred); FOUND IN cytoplasm (inferred); nucleosome (inferred); nucleus (inferred); INTERACTS WITH paracetamol; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p13.3 11536532 11536843 - 11367141 11367452 - 11273284 11273595 - 729500;6480464 8720108 16581810;18978792;19602509;22190364;23568457;9827065 58531 Q9NNZ6 ABBA01006810;AC009121;AMYH02031463;AW666005;CH471112;KF459690;NM_021247;Z46940 AAI72319;CAB92526;EAW85160;NP_067070;Q9NNZ6 Hs.259636 gene 4 protamine-3;sperm protamine P3 protein-coding HGNC:13732 17909 VALIDATED 7870151 PRMT1P1 protein arginine methyltransferase 1 pseudogene 1 5 5 5 171807685 171808938 + 176692366 176693639 - 177265365 177266638 - 100420910 ABBA01033461;AC146507;AMYH02012832;NG_024644 pseudo HGNC:49611 INFERRED 730871 PRLR prolactin receptor This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011] 5 5 5 p13.2 34937982 35112885 - 35048861 35230823 - 35048756 35230721 - 1580863;6480464;6907045;8699517;7240710;8554872 10084611;10221598;10455112;10585417;10772872;10966654;10991949;11076863;11328862;11518703;11713228;11721697;11997178;12021177;12351696;12391112;12477494;12477932;12559630;12580759;12668872;12679477;12819209;12937675;14522994;14702039;15082796;15119991;15135067;15489334;15489336;15504038;1559983;15618286;15700312;16103113;1617425;16278670;16381901;16434456;16556730;16651265;16740656;16785991;17177141;17525486;17785459;18053149;18081308;18207134;18252943;18316598;18573876;18596217;18613925;18636124;18681966;18779591;19056863;19086053;19153125;19273600;19276348;19574343;19739126;19897676;19906835;20032052;20053995;20214633;20335148;20379614;20427283;20453834;20547007;20634197;20655519;20658264;20716560;20734064;20826546;20846877;20875426;20889499;20962278;21068074;21125332;21144038;21238538;21305610;21310852;21470416;21510945;21591677;21670145;21775057;21816901;21989556;22081226;22325776;22577091;22606260;23159947;23192981;23651351;2369845;23775766;23849393;24032713;24142695;24195502;24249584;24333596;24391856;24735798;24997655;2558309;6278192;6331435;7534043;7706371;7768908;7768923;7984244;8550784;9009200;9202403;9341613;9544990;9556914;9626554;9888587 5618 D6R9E1;D6R9P5;D6R9V7;D6RAN9;D6RC67;D6RD41;D6RJC8;P16471;Q8TD76 ABBA01039259;ABBA01039260;ABBA01039261;AC010368;AC091851;AF091870;AF166329;AF214012;AF349939;AF416618;AF416619;AF492470;AF493068;AF493069;AF512796;AI022810;AI041980;AI079645;AK001889;AK023665;AK313270;AMYH02011155;AMYH02011156;AY062295;BC059392;BP357907;BQ023302;BX538149;CH471119;DA640476;GU133399;KF457883;KF573643;M31661;NG_029042;NM_000949;NM_001204314;NM_001204315;NM_001204316;NM_001204317;NM_001204318;NR_037910;S75672;S78505;XM_006714484 AAA60174;AAB33685;AAB34470;AAD32032;AAD49855;AAH59392;AAK32703;AAL23914;AAL23915;AAL40855;AAM11660;AAM11661;AAM18048;ACZ04321;BAG36079;CAL38328;CAL38451;EAW55913;EAW55914;EAW55915;EAW55916;EAW55917;EAW55918;EAW55919;NP_000940;NP_001191243;NP_001191244;NP_001191245;NP_001191246;NP_001191247;P16471;XP_006714547 Hs.368587;Hs.602914 1687333;1697116;1776135;1781104;1781196;2121652;2124480;2157638;7187036 D5S1900;D5S2592;RH102042;RH16173;RH46591;STS-M31661;STS-W35369;human.PRLR HPRL;MFAB;PRL-R;hPRLrI OTTHUMP00000115998;OTTHUMP00000221068;OTTHUMP00000221070;OTTHUMP00000221071;OTTHUMP00000221072;OTTHUMP00000221073;delta 4-SF1b truncated prolactin receptor;delta 4-delta 7/11 truncated prolactin receptor;hPRL receptor;prolactin receptor delta 7/11;secreted prolactin binding protein APPROVED protein-coding ENSG00000113494 HGNC:9446 01457 176761;615554;615555 REVIEWED 1350304 PRM1 protamine 1 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN cell differentiation (inferred); chromosome condensation (inferred); DNA packaging (inferred); FOUND IN nucleoplasm (inferred); nucleosome (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,2',5,5'-tetrachlorobiphenyl (ortholog); 4-hydroxyphenyl retinamide (ortholog) 16 16 16 p13.2 11544077 11544576 - 11374693 11375192 - 11280836 11281335 - 1580863;6480464 10390541;10659848;12477932;12569175;14701833;15489334;16112646;16989827;17011555;17494104;18292840;18292846;18309899;18314125;18381856;18390561;18478156;18692784;19602509;19863670;20378615;2081589;21029114;21317160;22104739;22190364;22472940;22574365;23079002;23251661;23568457;2370044;2613245;3527226;3658707;4027356;7721781;7865133;7983046;8263493;8466000;8647104;8662749 5619 P04553;Q3MN80 AB281136;ABBA01006810;AC009121;AF215707;AK311987;AMYH02031463;AY651260;BC003673;BT006746;CD360017;CH471112;HC007228;M29706;M60331;NM_002761;S68144;U15422;Y00443;Z46940 AAA60191;AAA63249;AAB29321;AAC50486;AAF34620;AAH03673;AAP35392;AAX35688;ABM83413;ABM86624;BAF36637;BAG34926;CAA68499;CAA87065;CBH19419;EAW85157;NP_002752;P04553 Hs.2909 1669403;1791764 PMC124363P1;SHGC-12701 CT94.1;P1 OTTHUMP00000115605;cancer/testis antigen family 94, member 1;cysteine-rich protamine;sperm protamine P1;testis specific protamine 1 protein-coding ENSG00000175646 HGNC:9447 01688 182880 VALIDATED 736187 PRL prolactin This gene encodes the anterior pituitary hormone prolactin. This secreted hormone is a growth regulator for many tissues, including cells of the immune system. It may also play a role in cell survival by suppressing apoptosis, and it is essential for lactation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011] 6 6 6 p22.3 23520776 23536391 - 22287473 22303082 - 22287244 22302853 - 1580863;1642556;1642558;1642557;1642576;1642555;1642559;1642560;1642574;1642575;6480464;6907045 16303834;16617309;17119344;17260475;17303669;17316702;17626900;3888755;8388614 10690937;10854700;10935542;10966654;11162551;1126929;11437600;11665977;11721691;11721692;11721693;11721694;11721695;11721696;11721698;11721699;11721702;11721703;11923474;11997178;12036601;12154211;12445833;12459032;12477932;12485910;12524085;12552091;12559630;12668883;12679477;12687277;12729745;12928232;1332868;14565846;14580717;14645190;14647416;14984591;15026085;15031321;15063762;15192082;15218000;15489334;15504038;15645137;15993365;1601394;16045928;16103113;16133148;16187706;16214922;16378242;16384849;16396693;16434456;16507890;16608881;16630538;16807649;16848233;1697858;16981141;1707126;17187171;17260098;17289576;17351784;17468404;17507624;17548836;17550976;17564716;17587788;17590551;17607310;17785327;17785459;17884785;17984948;18006630;18006851;18022314;18051367;18053149;18063946;18156207;18207134;18252943;18403642;18425437;18432585;18556224;18636124;18647802;18752070;18771565;18843963;19051037;19086053;19115200;19384991;19401036;19404952;19451414;19491263;19551610;19555049;19574343;19727442;19851340;19897676;20032052;20053995;20080972;20124477;20163720;20307875;20352225;20399783;20424473;20427283;2050267;20547007;20587610;20647249;20655519;20716560;20734064;20823101;20825378;20846890;20885978;20886416;20889499;20962042;21068074;21122264;21125332;21146499;21163806;21164080;21177637;21226500;21262884;21277631;21305610;21331754;21500962;21524385;21554911;21592821;21623375;21664429;21719533;21720444;21774041;21785216;21823053;21831600;21941183;21971318;22081226;22094377;22193237;22205628;22293228;22363612;22392353;22412226;22420298;22495675;22577091;22689615;22723625;22729360;22732335;22733751;22821332;23013937;23085263;23167807;23284291;23333304;23378139;23445257;23445298;23530035;23541403;23619365;23626671;23639781;23660301;23729680;23744893;23849393;23873024;23937200;24004716;24029242;24135841;24146212;24248464;24495670;24612525;24984282;25049387;2567059;3595901;6146607;6260780;6325171;7221563;743954;7984244;8015553;8421089;9207433;9220021;925136;9266104;9626554 5617 P01236;Q5THQ0 ABBA01022298;AF068859;AL023883;AMYH02013295;BC015850;BC088370;CD106243;CH471087;D00411;DQ839492;GQ305133;M29386;M58594;NG_029819;NM_000948;NM_001163558;U75583;V00566;X00368;X00540;X54393;X54394 AAA60173;AAB70858;AAD12943;AAH15850;AAH88370;AAO87820;ABI63353;ABM84054;ABM87406;ACT52574;BAA00312;CAA23829;CAA25108;CAA25214;CAA38263;CAA38264;CAA38265;EAW55435;NP_000939;NP_001157030;P01236 Hs.1905;Hs.735971 1652529;1760143;1773298;2113840;2180008;2217850 D6S1831;PRL;PRL_2831;RH46707;RH67913;SHGC-132039 OTTHUMP00000017727;decidual prolactin APPROVED protein-coding ENSG00000172179 HGNC:9445 07180 176760 REVIEWED 5683651 PRMT5-AS1 PRMT5 antisense RNA 1 14 14 q11.2 3251408 3255513 + 23388509 23392616 + 14702039 100505758 AK093277;AL132780;DB548852;NR_120599;NR_120600;XR_110265;XR_111413;XR_172031 Hs.655707 1648366;2119662 A002Q41;G21627 APPROVED ncrna HGNC:40533 VALIDATED 1604394 PRMT3 protein arginine methyltransferase 3 This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 11 11 11 p15.1 20541661 20662994 + 20409076 20530879 + 20387530 20509333 + 7242552;6480464;9491823 20423833;21074527 10224081;11257227;12477932;14702039;15175657;15334060;15473865;15489334;15737618;16157300;16190779;16344560;16420693;16705470;16922515;17550233;18495660;18573314;18656952;19101556;19158082;19460752;19641605;19913121;20541591;20628086;21059412;21139048;21410432;21584310;21866297;21890473;21942715;22179613;22795084;22863883;22939629;23445220;23455924;23635657;23912080;9642256 10196 E9PLF6;E9PRB4;O60678;Q8WUV3 ABBA01061031;ABBA01061032;ABBA01061033;ABBA01061034;AC025972;AC108005;AF059531;AK125039;AK129984;AK298185;AK300591;AK301449;AK307776;AMYH02024414;AMYH02024415;BC019339;BC037544;BC047226;BC064831;CA428457;CH471064;DA163907;DB510248;KC877394;KC877396;KF459543;NM_001145166;NM_001145167;NM_005788;XM_005252730;XM_006718121 AAC39837;AAH19339;AAH37544;AAH64831;ACE86437;ACE87112;BAG60456;BAG62289;BAG62973;EAW68333;EAW68334;EAW68335;EAW68336;NP_001138638;NP_001138639;NP_005779;O60678;XP_005252787;XP_006718184 Hs.152337 HRMT1L3 HMT1 hnRNP methyltransferase-like 3;OTTHUMP00000231732;OTTHUMP00000231735;heterogeneous nuclear ribonucleoprotein methyltransferase-like 3;heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 3;protein arginine N-methyltransferase 3 APPROVED protein-coding ENSG00000185238 HGNC:30163 11934 603190 VALIDATED 1605435 PRMT2 protein arginine methyltransferase 2 ENCODES a protein that exhibits androgen receptor binding; estrogen receptor binding; histone methyltransferase activity; INVOLVED IN histone methylation; negative regulation of NF-kappaB transcription factor activity; negative regulation of transcription, DNA-templated; PARTICIPATES IN histone modification pathway; methionine cycle/metabolic pathway; ASSOCIATED WITH Asthma (ortholog); FOUND IN cytoplasm; cytosol; nucleus; INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; calcitriol 21 21 21 q22.3 33168696 33198017 + 48055507 48085155 + 46635595 46665124 + 6480464;7242552;9479047;9491823 20423833;21074527;24583552 10830953;11513728;12039952;12477932;14667819;14702039;15146197;15489334;16189514;16344560;16368877;16616919;16648481;17587566;19101556;19161160;19405910;21820040;21851090;21963094;21988832;22093364;22179613;23455924;8125298;8619474;8889548;9110174;9196002;9545638 3275 A8MXR3;H7C2H9;P55345 ABBA01021772;AF059319;AI801643;AK055950;AK095641;AK123352;AK123650;AK124494;AK223157;AK312573;AL109794;AL833586;AMYH02037964;AMYH02037965;AP000339;AP000340;AY786414;BC000727;BC038765;BC100026;BF683143;BM976817;BQ267811;BQ421001;BY799824;CA427786;CB045875;CB529922;CH471079;CN293838;CR541804;DA169949;DA517312;DA708321;DB160043;FJ436410;FJ436411;FJ436412;HH961836;NM_001242864;NM_001242865;NM_001242866;NM_001286676;NM_001286677;NM_001286678;NM_001535;NM_206962;U79286;U80213;X99209;XM_005261111;XM_006723998;XM_006723999;XM_006724000 AAB48437;AAB50221;AAG43116;AAH00727;AAH38765;AAI00027;AAV48568;ABM83052;ABM86245;ACJ66866;ACJ66867;ACJ66868;BAD96877;BAG53931;CAA67599;CAB52454;CAG46603;CBX51391;EAX09258;EAX09259;EAX09260;EAX09261;EAX09262;EAX09263;EAX09264;EAX09265;NP_001229793;NP_001229794;NP_001229795;NP_001273605;NP_001273606;NP_001273607;NP_001526;NP_996845;P55345;XP_005261168;XP_006724061;XP_006724062;XP_006724063 Hs.154163;Hs.661229 1674836;1686776;1696996;1854142;1854148;1855904;2121636;2132551;2141887;2182282;5020924;5092618;5092968;5115063;5127579 A001T33;A005B33;A007B35;A009D14;G19632;G32217;G32442;RH101971;RH69334;RH92547;SHGC-16482;SHGC-33747;SHGC-34143;SHGC-87732;SHGC-87734 HRMT1L1;MGC111373 HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1;HMT1 hnRNP methyltransferase-like 1;OTTHUMP00000046525;OTTHUMP00000046526;OTTHUMP00000115881;OTTHUMP00000115882;OTTHUMP00000115884;OTTHUMP00000207831;PRMT2 alpha;PRMT2 beta;PRMT2 gamma;histone-arginine N-methyltransferase PRMT2;protein arginine N-methyltransferase 2 protein-coding ENSG00000160310 HGNC:5186 09060 601961 VALIDATED 7963133 PRMT5P1 protein arginine methyltransferase 5 pseudogene 1 4 4 4 145701008 145701602 - 148379879 148380473 - 147458727 147459321 - 100420927 ABBA01070057;AC093908;AMYH02010273;NG_025173 pseudo HGNC:32524 INFERRED 1605979 PRMT8 protein arginine methyltransferase 8 Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008] 12 12 12 p13.3 5214206 5316768 + 3490515 3703139 + 3381349 3593973 + 6480464;8554872 12477932;14702039;15489334;16051612;16189514;16344560;16713569;17643375;17925405;18320585;18698489;19060904;19060911;20379614;21906983;22179613;23455924;23620769;23635657;23946480 56341 Q59GT2;Q9NR22 AB209027;ABBA01048777;ABBA01048778;ABBA01048779;AC005831;AC005908;AC005925;AF263539;AK026786;AK093651;AK315619;AMYH02025899;AMYH02025900;AMYH02025901;AMYH02025902;AMYH02025903;AMYH02025904;AMYH02025905;AMYH02025906;AMYH02025907;AMYH02025908;AMYH02025909;AMYH02025910;BC022458;CH471116;DA200375;KF455586;NM_001256536;NM_019854;XM_006718986 AAF91390;AAH22458;ABM83307;ABM86519;BAB15553;BAD92264;BAG37987;EAW88861;EAW88862;NP_001243465;NP_062828;Q9NR22;XP_006719049 Hs.504530 1340413;1693876;1693878;1693880;1693898;1717581;1725977;1732347;1733534;1782750;2108155;2136454 D12S1050;D12S188;D12S879;G41244;G42628;G42629;G42630;G42639;G62272;HRMT1L3_8067;RH122096;SHGC-172081 HRMT1L3;HRMT1L4 HMT1 hnRNP methyltransferase-like 3;HMT1 hnRNP methyltransferase-like 4;OTTHUMP00000158607;OTTHUMP00000238205;heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 4;protein arginine N-methyltransferase 4;protein arginine N-methyltransferase 8 APPROVED protein-coding ENSG00000111218 HGNC:5188 11029 610086 VALIDATED 1601836 PRMT9 protein arginine methyltransferase 9 ENCODES a protein that exhibits methyltransferase activity (inferred); protein methyltransferase activity (inferred); INVOLVED IN protein methylation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH methyl methanesulfonate; quercetin; aflatoxin B1 (ortholog) 4 4 4 q31.23 145880642 145926389 - 148558936 148605381 - 147637785 147684230 - 6480464 12477932;14702039;17708529;19300908;21906983;21963094;21987572;24250222 90826 D6REN0;Q6P2P2 ABBA01070059;AC093835;AK096703;AK128483;AK292904;AL137452;AMYH02010275;AMYH02010276;BC004337;BC021250;BC064403;CH471056;HH961802;NM_138364;XM_005263338;XM_005263339;XM_005263340 AAH04337;AAH21250;AAH64403;BAC87459;BAF85593;BAG53354;CAB70744;CBX51374;EAX05011;EAX05012;EAX05013;EAX05014;NP_612373;Q6P2P2;XP_005263395;XP_005263396;XP_005263397 Hs.591692 1675535;1754637;2140266 RH93088;SHGC-132984;SHGC-58310 FLJ46629;PRMT10 OTTHUMP00000220097;protein arginine methyltransferase 10 (putative);putative protein arginine N-methyltransferase 10;putative protein arginine N-methyltransferase 9 APPROVED protein-coding ENSG00000164169 HGNC:25099 14280 PROVISIONAL 1312299 PRMT6 protein arginine methyltransferase 6 The protein encoded by this gene belongs to the arginine N-methyltransferase family, which catalyze the sequential transfer of methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins, to form methylated arginine derivatives and S-adenosyl-L-homocysteine. This protein can catalyze both, the formation of omega-N monomethylarginine and asymmetrical dimethylarginine, with a strong preference for the latter. It specifically mediates the asymmetric dimethylation of Arg2 of histone H3, and the methylated form represents a specific tag for epigenetic transcriptional repression. This protein also forms a complex with, and methylates DNA polymerase beta, resulting in stimulation of polymerase activity by enhancing DNA binding and processivity. [provided by RefSeq, Sep 2011] 1 1 1 p13.3 105773915 105776564 + 107599267 107601916 + 107056645 107059294 + 1359044;1580863;6480464;7242552;9479047 15866169;21074527;24583552 11724789;11827452;12477932;14702039;15489334;15596808;16157300;16293633;16344560;16600869;17169163;17176473;17267505;17415034;17898714;18077460;18079182;18508616;18976462;19322201;19405910;19509293;19726520;19754311;20473859;20812326;21204735;21988832;22077140;22179613;22197933;22219200;22449649;22673335;22777353;22829776;22863883;22916108;23032699;23265702;23326497;23349634;23380452;23455924;23563609;23800116;23866860;23911394;23980157;24165912;24742914;8125298 55170 B4DNF6;Q96LA8 ABBA01028430;AI754232;AK001421;AK226009;AK295541;AK297898;AL355539;AMYH02001656;AY043278;BC002729;BC013866;BC063446;BC073866;CH471156;DA073209;NM_018137 AAH02729;AAH63446;AAH73866;AAK85733;BAA91681;BAG58450;BAG60218;EAW51248;NP_060607;Q96LA8 Hs.26006 1671434;5493919 Prmt6;WI-15868 FLJ10559;FLJ51477;HRMT1L6 HMT1 hnRNP methyltransferase-like 6;OTTHUMP00000012633;heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 6;histone-arginine N-methyltransferase PRMT6;hmt1 hnrnp methyltransferase-like 6 (s. cerevisiae);protein arginine N-methyltransferase 6 APPROVED protein-coding ENSG00000198890 HGNC:18241 10505 608274 VALIDATED 1601867 PRMT7 protein arginine methyltransferase 7 Arginine methylation is an apparently irreversible protein modification catalyzed by arginine methyltransferases, such as PMT7, using S-adenosylmethionine (AdoMet) as the methyl donor. Arginine methylation is implicated in signal transduction, RNA transport, and RNA splicing (Miranda et al., 2004 [PubMed 15044439]).[supplied by OMIM, Mar 2008] 16 16 16 q22.1 52853382 52899696 + 68344877 68391169 + 68310974 68357266 + 6480464;7242552;9479047;8554872 21074527;24583552 11572484;12477932;14702039;15044439;15489334;15494416;16051612;16344560;16712791;17048991;17709427;18781797;18992153;19110445;20562859;20700443;21044950;21963094;22179613;22231400;22241471;22761421;23455924;24654937 54496 H3BNC0;H3BNS2;H3BPZ8;H3BRD3;H3BRQ9;H3BSS9;H3BTY1;Q9NVM4 AB067520;ABBA01025484;AC020978;AC099521;AK001502;AK022739;AK056647;AK097175;AK304605;AMYH02032249;AX239965;AX876877;BC000146;CB140365;CH471092;DA287041;DA648148;NM_001184824;NM_001290018;NM_019023;XM_005255988;XM_005255989;XM_005255991;XM_005255992;XM_005255993;XM_006721196;XM_006721197;XM_006721198;XM_006721199;XR_243413 AAH00146;BAA91726;BAB14215;BAB67826;BAG51772;BAG53431;BAG65391;CAC88319;CAE89471;EAW83224;EAW83225;EAW83226;EAW83227;EAW83228;EAW83229;EAW83230;EAW83231;EAW83232;NP_001171753;NP_001276947;NP_061896;Q9NVM4;XP_005256045;XP_005256046;XP_005256048;XP_005256049;XP_005256050;XP_006721259;XP_006721260;XP_006721261;XP_006721262 Hs.653193 2135200 SHGC-61160 FLJ10640;KIAA1933 OTTHUMP00000174863;[Myelin basic protein]-arginine N-methyltransferase PRMT7;histone-arginine N-methyltransferase PRMT7;myelin basic protein-arginine N-methyltransferase;protein arginine N-methyltransferase 7 APPROVED protein-coding ENSG00000132600 HGNC:25557 15174 610087 VALIDATED 731338 PRMT1 protein arginine methyltransferase 1 This gene encodes a member of the protein arginine N-methyltransferase (PRMT) family. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to terminal guanidino nitrogen atoms. The encoded protein is a type I PRMT and is responsible for the majority of cellular arginine methylation activity. Increased expression of this gene may play a role in many types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011] 19 19 19 q13.3 47049830 47061036 + 50180409 50191707 + 49677152 49688450 + 1359044;1300048;1580863;737807;2326123;5128512;6480464;7242552;9491823;9491822;9479047 10848611;15866169;16394250;17163421;20423833;21074527;23159951;24583552 10652299;10749851;10772824;10899106;11050077;11097842;11152681;11257227;11387442;11448779;11483748;11513728;11850402;11856371;12171910;12183049;12477932;12509629;12529443;12704081;12718890;12737817;14583623;14734530;14966289;15084609;15146197;15186775;15324660;15345777;15364944;15674337;15737635;15741314;15899857;15911693;16051612;16157300;16159886;16169070;16189514;16196087;16294045;16294047;16492668;16713569;16782888;16861234;16879614;16980624;17043108;17052457;17053781;17264152;17353931;17426288;17550233;17620599;17643375;17846119;17848568;17891136;17971302;18280497;18285453;18316480;18413343;18495660;18657504;18700728;18773938;18781797;19078953;19101556;19124016;19144646;19158082;19161160;19170758;19183483;19405910;19414388;19596784;19641605;19643181;19682581;19738201;19913501;20064924;20360068;20442406;20473859;20497508;20614009;20812326;21081666;21139048;21145461;21172665;21184736;21187067;21229402;21242974;21285357;21319273;21444773;21653943;21697082;21851090;21890473;21900206;21906983;21963094;21965298;22053931;22095282;22179613;22190034;22442049;22451921;22482410;22498736;22505724;22614839;22697391;22749861;22839530;22863883;22917032;22939629;23000965;23084401;23152885;23184937;23187807;23388725;23419748;23455922;23455924;23483889;23602568;23620769;23624934;23635657;23699174;24121109;24211191;24250222;24296620;24390425;24457600;24778252;25015289;25027693;4924231;8288564;8663146;8675017;9029147;9545638;9891755 3276 B4DJ87;E9PI83;E9PIE2;E9PIX6;E9PKG1;E9PMW9;E9PMZ2;E9PNR9;E9PQ98;H0YDE4;H7C2I1;Q99873 ABBA01032913;AC011495;AF085918;AF222689;AI193116;AK295973;AK304660;AL711069;AMYH02036325;AMYH02036326;AY775289;BC019268;BC109282;BC109283;BX352789;CH471177;CN264743;CR407608;D66904;DC421815;DN990556;NG_031846;NM_001207042;NM_001536;NM_198318;NR_033397;XM_005258842;XM_005258844;Y10805;Y10806;Y10807 AAF62893;AAF62894;AAF62895;AAH19268;AAI09283;AAI09284;AAV41837;ABZ92509;BAA11029;BAG58749;BAG65435;CAA71763;CAA71764;CAA71765;CAG28536;EAW52518;EAW52519;EAW52520;EAW52521;NP_001193971;NP_001527;NP_938074;Q99873;XP_005258899;XP_005258901 Hs.20521 1648107;1676982;1795202;2118737;2119391;5022651 D11S2921;Hrmt1l2;RH65905;RH68301;RH91411;STS-N90422 ANM1;HCP1;HRMT1L2;IR1B4 HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2;HMT1 hnRNP methyltransferase-like 2;OTTHUMP00000236172;OTTHUMP00000236176;OTTHUMP00000236178;OTTHUMP00000236179;heterogeneous nuclear ribonucleoprotein methyltransferase 1-like 2;heterogeneous nuclear ribonucleoproteins methyltransferase-like 2 (s. cerevisiae);histone-arginine N-methyltransferase PRMT1;interferon receptor 1-bound protein 4;protein arginine N-methyltransferase 1 APPROVED protein-coding ENSG00000126457 HGNC:5187 04257 602950 REVIEWED 1353334 PRNT prion protein (testis specific) FOUND IN extracellular region (inferred) 20 20 20 p13 4781642 4791028 - 4711928 4721314 - 4731282 4740668 - 12477932;12514748;15342797;16460908;16889908;17199895;20206252 149830 Q86SH4 ABBA01053857;AJ427539;AJ427540;AL133396;AL137296;AMYH02036628;BC137389;BC137390;CH471133;NR_024267;NR_024268;NR_024269 CAD20690;CAD20691;EAX10447;Q86SH4 Hs.126516 1649313;1697354 D20S1095;RH102175 M8 ncrna ENSG00000180259 HGNC:18046 14086 PREDICTED 1342561 PRO1 progeria 1 (Hutchinson-Gilford type) 353215 HGNC:9450 1315338 PRND prion protein 2 (dublet) This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that is found predominantly in testis. Mutations in this gene may lead to neurological disorders. [provided by RefSeq, Jul 2008] 20 20 20 p13 4772270 4778820 + 4702556 4709106 + 4721854 4728462 + 1580863;6480464 10525406;10577243;10825657;11063595;11702213;11734625;11780052;12200435;12399017;12477932;12514748;12586339;12595265;12975309;14745079;14970845;15158907;15203115;15246873;15489334;15933804;15986038;16421231;16889908;17047093;17201176;17207965;17390034;17894227;18936526;19129949;19363267;19728151;20379614;20981146;22453181 23627 A7U7M2;Q27H88;Q9UKY0 ABBA01053857;AF086354;AF106918;AF187843;AF187844;AK313404;AL133396;AMYH02036628;AY358985;BC043644;CH471133;DQ408534;EU009729;NM_012409 AAF02424;AAG43448;AAG43449;AAH43644;AAQ89344;ABD63007;ABU40603;ADQ32525;BAG36200;EAX10448;NP_036541;Q9UKY0 Hs.406696 1700094;5022578 D1S1423;RH103660 DPL;MGC41841;PrPLP;dJ1068H6.4 DOPPEL;OTTHUMP00000030169;prion gene complex, downstream;prion-like protein doppel APPROVED protein-coding ENSG00000171864 HGNC:15748 05039 604263 REVIEWED 1319178 PRMT5 protein arginine methyltransferase 5 ENCODES a protein that exhibits methyltransferase activity; protein-arginine omega-N symmetric methyltransferase activity; ribonucleoprotein complex binding; INVOLVED IN endothelial cell activation; peptidyl-arginine methylation; peptidyl-arginine methylation, to symmetrical-dimethyl arginine; PARTICIPATES IN p53 signaling pathway; histone modification pathway; homocysteine metabolic pathway; ASSOCIATED WITH Leydig Cell Tumor; Seminoma; Asthma (ortholog); FOUND IN cytoplasm; cytosol; methylosome; INTERACTS WITH 2-methylcholine; Aroclor 1254; copper(2+) sulfate 14 14 14 q11.2 3252630 3261553 - 23389733 23398789 - 22920511 22929585 - 1580863;1359044;2299953;6480464;6484113;7242552;9479047;9491823 15866169;17437848;20423833;21074527;24583552 10531356;10734105;11152681;11713266;11720283;11747828;11756452;12101096;12358155;12477932;12665801;12718890;12972618;14559996;14583623;14702039;15130578;15324660;15369763;15485929;15489334;15654770;15670829;15701830;15737618;16087681;16169070;16300736;16428440;16699504;16712789;16969126;16980624;17409432;17452440;17573539;17620599;17627275;17643375;17707232;17709427;17925232;17974993;18029348;18347060;18404153;18562274;18694959;18781797;18984161;18992153;19032343;19086919;19167051;19188441;19234465;19380743;19520849;19738201;19741270;20195544;20360068;20421892;20473970;20495075;20811636;20951943;21081503;21081666;21118156;21139048;21145461;21159818;21262773;21316606;21385873;21592330;21700716;21890473;21906983;21907836;21917714;21963094;21975038;21987572;22143770;22169276;22179613;22193545;22199349;22231400;22266372;22268729;22269951;22354994;22365833;22586326;22689669;22708516;22726390;22733990;22797925;22863883;22939629;22952863;23071334;23084401;23133559;23184937;23246001;23261437;23292799;23398456;23455922;23455924;23569248;23671120;23862649;23904475;23912080;24098663;24121109;24163370;24189068;24326178;24453002;24550385;24753255;24816145;25027693;9556550;9843966 10419 B4DV00;C9JSX3;G3V2F5;G3V2L6;G3V2X6;G3V3A3;G3V507;G3V580;G3V5L5;G3V5T6;H0YJ77;H0YJD3;H0YJX6;H0YJY6;H7BZ44;O14744 AA496357;AB451246;AB451370;ABBA01061291;AF015913;AF167572;AK027737;AK075251;AK300863;AK301812;AK302240;AK315500;AL132780;AL833612;AMYH02028855;BC005820;BC025979;CH471078;CQ783364;CR456741;DC395183;FB789353;FB789383;FB811362;FB811392;FB824205;FB824235;FB827318;FB827348;FB832629;FB832659;FB833178;FB833208;FB835923;FB835953;FB847656;FB847686;FB857233;FB857263;FB866093;FB866123;FB874522;FB874552;FB877659;FB877689;FB884959;FB884989;FB892816;FB892846;FB895939;FB895969;FB898146;FB898176;HB659412;HB659442;HB681421;HB681451;HB694264;HB694294;HB697377;HB697407;HB702688;HB702718;HB703237;HB703267;HB705982;HB706012;HB717715;HB717745;HB727292;HB727322;HB736152;HB736182;HB744581;HB744611;HB747718;HB747748;HB755018;HB755048;HB762875;HB762905;HB765998;HB766028;HB768205;HB768235;HB830570;HB830600;NM_001039619;NM_001282953;NM_001282954;NM_001282955;NM_001282956;NM_006109;XR_429287 AAB66581;AAF04502;AAH25979;ABM84347;ABM87772;BAG37884;BAG52095;BAG62512;BAG63261;BAG63592;BAG70060;BAG70184;CAF86569;CAG33022;CAW36507;CAW36522;CAW47075;CAW47090;CAW52884;CAW52899;CAW54329;CAW54344;CAW56663;CAW56678;CAW56884;CAW56899;CAW58130;CAW58145;CAW63380;CAW63395;CAW67682;CAW67697;CAW71688;CAW71703;CAW75488;CAW75503;CAW76906;CAW76921;CAW80180;CAW80195;CAW83710;CAW83725;CAW85688;CAW85725;CAW88052;CAW88087;CBC02460;CBC02475;CBC12707;CBC12736;CBC24395;CBC24426;CBC27261;CBC27290;CBC31963;CBC31992;CBC32400;CBC32427;CBC34850;CBC34879;CBC45305;CBC45335;CBC53883;CBC53913;CBC61885;CBC61915;CBC69422;CBC69455;CBC72246;CBC72276;CBC78810;CBC78840;CBC85871;CBC85900;CBC88583;CBC88615;CBC90649;CBC90681;CBD29472;CBD29487;EAW66217;EAW66218;EAW66219;EAW66220;EAW66221;NP_001034708;NP_001269882;NP_001269883;NP_001269884;NP_001269885;NP_006100;O14744 Hs.367854 1648366;2119662 A002Q41;G21627 HRMT1L5;IBP72;JBP1;SKB1;SKB1Hs 72 kDa ICln-binding protein;HMT1 hnRNP methyltransferase-like 5;OTTHUMP00000027922;OTTHUMP00000164558;OTTHUMP00000246076;OTTHUMP00000246077;OTTHUMP00000246079;SKB1 homolog;histone-arginine N-methyltransferase PRMT5;jak-binding protein 1;protein arginine N-methyltransferase 5;shk1 kinase-binding protein 1 homolog;skb1 homolog (s. pombe) protein-coding ENSG00000100462 HGNC:10894 04955 604045 VALIDATED 7247676 PRNCR1 prostate cancer associated non-coding RNA 1 8 q24.21 127079874 127092595 + 18264097;20676098;20874843;21743057;22923026;23023329;23945587;23948400;24330491;24594601 101867536 AB458446;ABBA01037940;AC020688;AMYH02018751;NR_109833 Hs.652970 CARLo-3;PCAT8 APPROVED ncrna HGNC:48942 615452 VALIDATED 5486560 PROB1 proline-rich basic protein 1 5 5 5 q31.2 134848063 134850880 - 138727635 138730885 - 139391946 139395196 - 19240791 389333 E7EW31 ABBA01068638;AC135457;AK303170;AK316483;AMYH02012318;AW576390;NM_001161546 BAG64269;BAH14854;E7EW31;NP_001155018 Hs.729482 C5orf65 hypothetical protein LOC389333;uncharacterized protein C5orf65;weakly similar to basic proline-rich protein APPROVED protein-coding HGNC:41906 VALIDATED 1343717 PRODH proline dehydrogenase (oxidase) 1 This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010] 22 22 22 q11.21 2752487 2775952 - 18900206 18924066 - 18912774 18936553 - 635270;1599206;1580863;6480464;6907045;7240710;8554872;8699517 10192398;12217952 10490714;11280728;11891283;12477932;12514185;12525555;12815738;1349369;14702039;15146197;15274030;15449943;15489334;15494707;15662599;15914462;16094254;16303758;16619034;16791139;16860541;16874462;17106420;17135275;17412540;17504246;17604122;18163391;18197084;18247315;18583979;18794809;18989458;19140736;19232576;19367581;19415679;19654292;19736351;19942609;20398908;20524212;20562915;20877624;21041608;21448237;21886157;21960278;22108328;22796327;23462603;23861960;23910792;24218577;24722188;7566098;7644464;7762575;7909992;8178837;8889548;9305847;9385373;9731535;9754621 5625 C9JIW4;E7EQL6;H7C363;H7C3U9;O43272 AA322439;AB209472;ABBA01005432;ABBA01005433;AC007326;AF010310;AK001359;AK091063;AMYH02038032;BC036534;BC068260;BC094736;BC118597;BC121809;BU730461;CB216963;CH471176;CN362765;KJ534920;NG_008226;NM_001195226;NM_016335;U79754 AAC39529;AAF21464;AAH68260;AAH94736;AAI18598;AAI21810;AHW56560;BAD92709;EAX03073;EAX03074;NP_001182155;NP_057419;O43272 Hs.517352 1336957;1648047;2110679;2118917;2151219;2151258;7185362;7186001 D22S1265;D22S283;D22S315;D22S446;G30159;NIB1910;PRODH__5587;SHGC-44364 FLJ33744;HSPOX2;MGC148078;MGC148079;PIG6;POX;PRODH1;PRODH2;SCZD4;TP53I6 OTTHUMP00000196495;OTTHUMP00000196496;OTTHUMP00000196497;p53-induced gene 6 protein;proline dehydrogenase 1, mitochondrial;proline dehydrogenase, mitochondrial;proline oxidase 2;proline oxidase, mitochondrial;tumor protein p53 inducible protein 6 APPROVED protein-coding ENSG00000100033 HGNC:9453 08433 239500;600850;606810 REVIEWED 1314349 PROCR protein C receptor, endothelial The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013] 20 20 20 q11.2 30508610 30514000 + 33759740 33803771 + 35171154 35215968 + 1580863;1578508;6480464;8554872 12970121 10364477;10397730;1051893;10518938;10570964;10681521;10681599;11099506;11552992;11686350;11703343;11776299;11780052;12034704;12052963;12152660;12152662;12413583;12439143;12477932;12514663;12529763;12560236;12563316;12586611;12683950;12831462;12871285;12897745;12911608;14576048;15080580;15116250;15150078;15178554;15304035;15489334;15634335;15710622;15921688;15954900;15978102;16113830;16153429;16169070;16354176;16354200;16409473;16444434;17027065;17049585;17054378;17099142;17099210;17155946;17170365;17327234;17439632;17454790;17570903;17823308;17849044;18073349;18160602;18278202;18403391;18443268;18480081;18539144;18555797;18604550;18612544;18680534;18757851;18977990;19004141;19129726;19222470;19236779;19238444;19296056;19436051;19467228;19581412;19587380;19634686;19689997;19696402;19806250;19860767;19895674;19913121;20141580;20231535;20237496;20506163;20619102;20628086;20802025;20826780;21103663;21139048;21149441;21228323;21252088;21273788;21362311;21392254;21502573;21824644;21851971;21885613;21901231;22036807;22216198;22251481;22370814;22443383;22614534;22681753;22703881;22885985;22885990;22903729;22939629;23128233;23136988;23342274;23348224;23377316;23408932;23539451;23555015;23563607;23581230;23661674;23717683;23724628;23739325;23741007;23875041;23877403;23881209;23993723;24051141;24158116;24436369;24529757;24635948;7929370;9396465 10544 Q9UNN8 AB026584;ABBA01019169;AF106202;AF375468;AK314887;AL121753;AL356652;AMYH02036991;AMYH02036992;BC014451;BG423815;BM808358;BQ939781;CH471077;CR456948;HY110044;L35545;NG_032899;NM_006404;X89079;XM_005260251;XM_006723682 AAA63647;AAD43967;AAH14451;AAK53045;ABM83760;ABM87080;BAA77249;BAG37401;CAA61450;CAG33229;EAW76223;EAW76224;NP_006395;Q9UNN8;XP_005260308;XP_006723745 Hs.647450 1657027;1662072;2117463;2153999 GDB:678971;HSC25E122;RH69559;STS-L35545 CCCA;CCD41;CD201;EPCR;MGC23024;bA42O4.2 APC receptor;CD201 antigen;OTTHUMP00000030729;activated protein C receptor;cell cycle, centrosome-associated protein;centrocyclin;endothelial cell protein C receptor;endothelial protein C receptor APPROVED protein-coding ENSG00000101000 HGNC:9452 02801 600646 REVIEWED 1603267 PROCA1 protein interacting with cyclin A1 ENCODES a protein that exhibits calcium ion binding (inferred); phospholipase A2 activity (inferred); INVOLVED IN lipid catabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH paracetamol; trichostatin A; valproic acid 17 17 17 q11.2 23889570 23898038 - 27030214 27039127 - 28703196 28712112 - 6480464;8554872 12477932;15159402;17207965 147011 J3QQU2;J3QSA8;K7ESJ9;Q8NCQ7 ABBA01015048;ABBA01015049;AC010761;AK301868;AK310299;AL137531;AMYH02033226;AMYH02033227;AY601916;BC029574;CH471159;NM_152465;XM_005257927;XM_005257928;XM_005257929;XM_005257930;XM_005257932;XM_006721723;XM_006721724 AAH29574;AAT09159;ADQ31738;BAG63307;EAW51125;EAW51126;NP_689678;Q8NCQ7;XP_005257984;XP_005257985;XP_005257986;XP_005257987;XP_005257989;XP_006721786;XP_006721787 Hs.207471 MGC39650 OTTHUMP00000163532;proline-rich cyclin A1-interacting protein protein-coding ENSG00000167525 HGNC:28600 07131 PROVISIONAL 1315565 PRODH2 proline dehydrogenase (oxidase) 2 The protein encoded by this gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme which catalyzes the first step in proline catabolism. The function of this protein has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 33004365 33017674 - 36290892 36304201 - 35799990 35813299 - 1580863;6480464;6907045;7240710 12477932;18287100;20877624;23861960 58510 K7EJK5;Q9UF12;S4R3D8 ABBA01018766;ABBA01018767;ABBA01018768;AC002398;AMYH02035990;BC038853;BC039710;HH769066;NM_021232;U80018 AAF21465;AAI66629;CBX85264;NP_067055;Q9UF12 Hs.515366 1683571 RH93184 HSPOX1 kidney and liver proline oxidase 1;probable proline dehydrogenase 2;probable proline oxidase 2 APPROVED protein-coding ENSG00000250799 HGNC:17325 17911 239500;600850 REVIEWED 737321 PROC protein C (inactivator of coagulation factors Va and VIIIa) This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009] 2 2 2 q13-q14 121487217 121498043 + 128175996 128186822 + 127418420 127429246 + 1578391;1578392;1580863;1578517;1578514;1578515;1578389;1581278;6480464;6907045;7240710;8554872;8699517 12067914;14995995;15114590;2437584;7881411;8128429;8400292 10026263;10649502;10681521;11099506;11106601;11123896;11380450;11686318;11761087;11994010;12029084;12052963;12063259;12091344;12091346;12193972;12195699;12200374;12407115;12477932;12482406;12540965;12563316;12588872;12609838;1270437;12871399;1290170;12960605;1301954;1301959;1347706;1433913;14517747;14660667;14675098;1469096;14718574;14961149;14976057;1498334;15005336;15116250;1511988;1511989;15178554;15248212;15308562;15319291;15337738;1544894;15486064;15489334;15505101;15516929;15582990;15634335;15665002;15670041;15705565;15710622;15769747;15841323;15860736;1593215;15978566;16095499;16105054;1611081;16113785;16113807;16113841;16146761;1615482;16246255;16335952;16344560;16418283;16420659;16601829;16607073;16712791;16765424;16867987;16887970;16935856;1694179;17048007;17054378;17107352;17170365;17254565;17255099;17284699;17343367;17549291;17557119;17569089;17603240;1761551;17646160;17649706;17677000;17704111;17849052;17890957;17932312;17982464;18029348;18045665;18089851;18160601;18184931;18198180;18247057;18329782;18376272;18424361;18424440;18451327;18457995;18489431;18496716;18521487;18573519;18612533;18680534;18680736;1868249;18702832;18768782;18779332;18824642;18953177;18954896;18974842;19052924;19116273;19129726;19132190;19190829;19244160;19244161;19248107;19279234;19350118;19350130;19373522;1939075;19404546;19506951;19535131;19546541;19587380;19625989;19644401;19680809;19682239;19686413;19691480;19765701;19774219;19794411;19874463;19892996;19913121;19922983;19924026;19958090;20066740;20077116;20127387;20128871;20156643;20174758;20180321;20187890;2033065;20334530;20404340;20409682;20452482;20485444;20492471;20499136;20501981;20628086;20664913;20673868;20675283;20707712;20802025;20815936;20873219;20881312;21044954;2105310;21173154;21176144;21228323;21392254;21430357;21474669;21486865;21569220;21575129;21627595;21777953;21822632;21826371;21900206;21901152;22106258;22109555;22167755;22168450;22236035;22236082;22245244;22371115;22398431;22425321;22443383;22447930;22477541;22531345;22535660;22545135;22576310;22627591;22664011;22682140;22690042;22750541;22817391;22918506;22944127;22951146;22964764;22976599;23174622;23224054;23312776;23339473;23377316;23387557;23389250;23412516;23480827;23484147;23580615;23879866;24051141;24115609;24158116;24177324;24233386;2461936;24660539;2538457;2544585;2551064;2602169;2912888;2991859;2991887;3185623;3427056;3511471;468991;6572939;6589623;7479820;7548163;7605880;7792728;7841323;7841324;7865674;7878626;7919373;7974343;7989361;8003977;8218861;8292730;8324221;8398832;8446940;8477066;8499565;8499568;8537329;8829639;8889548;8945631;8947506;9003757;9108399;9252393;9334197;9395524;9683579;9798967 5624 E7END6;E7ENR9;E7EU72;E7EVH6;F2Z2A0;H7BYX9;P04070 AB083690;AB083693;AB083695;AB083696;AB083697;AB083698;AB083699;AB083700;AB086849;AB086850;AB086851;AB086852;ABBA01040207;AC068282;AF378903;AK298280;AK298449;AK298454;AK303773;AMYH02004732;AY348553;AY348554;AY454079;BC034377;BM975043;CB113383;CH471103;CQ757487;CQ821348;CS355172;DA642156;GM997828;GM997830;K02059;M11228;M12712;NG_016323;NM_000312;S50739;S55227;S58668;X02750;XM_005263715;XM_005263716;XM_005263717;XM_006712633 AAA60164;AAA60165;AAA60166;AAB24150;AAB25410;AAB26335;AAH34377;AAK56377;AAQ24849;AAQ24850;AAR23427;AAY15044;ABM81717;ABM84873;BAC21165;BAC21166;BAC21167;BAC21168;BAC21169;BAC21170;BAC21171;BAC21172;BAC53629;BAC53630;BAC53631;BAC54280;BAG60540;BAG60665;BAG60669;BAG64736;CAA26528;CAF32600;CAG34344;CAL24228;CAX30697;CAX30698;EAW95320;NP_000303;P04070;XP_005263772;XP_005263773;XP_005263774;XP_006712696 Hs.224698 1740965;1741139;1741505;1741617;1741925;2130604;2170739 D2S2639;GDB:176978;GDB:178362;GDB:181257;GDB:181584;GDB:186843;RH70647 APC;PC;PROC1;THPH3;THPH4 OTTHUMP00000162263;OTTHUMP00000203820;OTTHUMP00000203827;anticoagulant protein C;autoprothrombin IIA;blood coagulation factor XIV;prepro-protein C;protein c;vitamin K-dependent protein C APPROVED protein-coding ENSG00000115718 HGNC:9451 01466 176860;612283;612304 REVIEWED 1350776 PROK2 prokineticin 2 This gene encodes a protein expressed in the suprachiasmatic nucleus (SCN) circadian clock that may function as the output component of the circadian clock. The secreted form of the encoded protein may also serve as a chemoattractant for neuronal precursor cells in the olfactory bulb. Proteins from other vertebrates which are similar to this gene product were isolated based on homology to snake venom and secretions from frog skin, and have been shown to have diverse functions. Mutations in this gene are associated with Kallmann syndrome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p13 71751377 71764927 - 71820806 71834357 - 71771655 71785206 - 1580863;6480464;7240710;8554872;8699517 10580115;11054548;11259612;12024206;12427552;12466223;12477932;12604792;12728244;14978236;15126578;15340161;15489334;15548611;15772293;16763065;17054399;17903308;17959774;18285834;18300343;18559922;18577758;18682503;18723471;19336519;20022991;20172976;20301509;20389090;20734064;21666788;22050240;22528488;23082007;23333304;23386640;23548897;24423319 60675 Q9HC23 ABBA01030938;AC096970;AF182069;AF333025;AMYH02007052;AY349131;BC069395;BC096695;BC098110;BC098162;CH471055;CS023558;CS583902;NG_008275;NM_001126128;NM_021935 AAG16893;AAH69395;AAH96695;AAH98110;AAH98162;AAK49919;AAR06657;CAI59104;CAN87426;EAW65506;EAW65507;EAW65508;NP_001119600;NP_068754;Q9HC23 Hs.528665 5019595 G54373 BV8;HH4;KAL4;MIT1;PK2 OTTHUMP00000213530;OTTHUMP00000213531;prokineticin-2;protein Bv8 homolog APPROVED protein-coding ENSG00000163421 HGNC:18455 08446 607002;610628 REVIEWED 733659 PROKR1 prokineticin receptor 1 ENCODES a protein that exhibits neuropeptide Y receptor activity (inferred); INVOLVED IN negative regulation of apoptotic process (inferred); neuropeptide signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); amitriptyline (ortholog); ammonium chloride (ortholog) 2 2 2 p13.1 68723398 68733153 + 68870712 68883244 + 68645822 68655576 + 1580863;6480464 10760605;11886876;12054613;12427552;12477932;14702039;15126578;15489334;15815621;16763065;18339712;19801577;20023120;20795791;20847187;20864676;21858136;21876489;22132188;22138749;23687280 10887 Q8TCW9 AB084080;ABBA01075490;AC105054;AF506287;AMYH02004015;AY089976;BC100960;CH471053;EF577399;NM_138964 AAI00961;AAM11892;AAM48127;AAY24114;ABQ52419;BAC24021;EAW99869;NP_620414;Q8TCW9 Hs.683430 1797650 GPR73_2559 GPR73;GPR73a;PK-R1;PKR1;ZAQ G protein-coupled receptor 73;G protein-coupled receptor ZAQ;G-protein coupled receptor 73;G-protein coupled receptor ZAQ;OTTHUMP00000159967;g protein-coupled receptor i5e protein-coding ENSG00000169621 HGNC:4524 08452 607122 VALIDATED 1351065 PROL1 proline rich, lacrimal 1 This gene encodes a member of the proline-rich protein family. The protein may provide a protective function at the eye surface. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 68621402 68633756 + 71263599 71275914 + 70397882 70410197 + 6480464 10831095;12477932;15851553;17101991;18410445;8670737 58503 Q99935 ABBA01022926;AC106884;AMYH02009420;BC092438;CD722615;CH471057;CK430664;CS162528;CS174966;NM_021225;S83198 AAB46823;AAI41466;AAI48721;CAJ32190;CAJ34589;EAX05620;NP_067048;Q99935 Hs.661425 1769333 SHGC-67981 BPLP;PRL1 OTTHUMP00000219147;basic proline-rich lacrimal protein;basic proline-rich protein;opiorphin;proline-rich 1;proline-rich protein 1 APPROVED protein-coding ENSG00000171199 HGNC:17279 16408 608936 REVIEWED 1353227 PROKR2 prokineticin receptor 2 Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [provided by RefSeq, Jul 2008] 20 20 20 p12.3 5352716 5365047 - 5281711 5297378 - 5301065 5316732 - 1580863;6480464;7240710;8554872;8699517 11780052;11886876;12427552;12477932;15126578;15489334;16754659;16763065;17054399;18559922;18682503;18723471;18826963;19544013;20022991;20023120;20301509;20379614;20389090;20576534;20734064;20847187;21161321;21224062;21454486;21858136;22132188;22138749;22319038;22466334;22745195;22773735;23082007;23200691;23386640;23687280;23891065;23969157;24031091;24276467;24487590;24830383 128674 Q8NFJ6 AB084081;ABBA01053879;AF506288;AK289995;AL121755;AL121757;AMYH02036640;BC104959;BC104961;CH471133;EF577398;NG_008132;NM_144773;XM_005260663 AAI04960;AAI04962;AAM48128;ABQ52418;BAC24022;BAF82684;EAX10422;NP_658986;Q8NFJ6;XP_005260720 Hs.375029 1720343;1797648 GPR73L1_2149;RH123922 GPR73L1;GPR73b;GPRg2;HH3;KAL3;PK-R2;PKR2;dJ680N4.3 G protein-coupled receptor 73-like 1;G-protein coupled receptor 73-like 1;Kallmann syndrome 3 (autosomal dominant);OTTHUMP00000030192 APPROVED protein-coding ENSG00000101292 HGNC:15836 08453 244200;607123 REVIEWED 737306 PRNP prion protein The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 20 20 20 p13 4736512 4751948 + 4666797 4682235 + 4686151 4701588 + 1599946;1599950;1580863;6480464;6484113;6907045;7240710;8554872;8699517 1684755;17146448 10090891;10581485;10618385;10631141;10790216;10900000;10954699;10970892;10987652;10988071;11032800;11060296;11062072;11100730;11120925;11161453;11220690;11244488;11278562;11283320;11438139;11559357;11571277;11584448;11593450;11684342;11704923;11709001;11756421;11775001;11780052;11787070;11833672;11840201;11882649;11900542;11961239;11986958;12034503;12070046;12084159;12093732;12161431;12186633;12205650;12356762;12356908;12359724;12392052;12399017;12459456;12464104;12477932;12514748;12543108;12547204;12568340;12590162;12601712;12621436;12645301;12659837;12679034;12679875;12682740;12684540;12690204;12692258;12694397;12719777;12778138;12796830;12805563;12867116;12917418;12917444;12946346;12952977;12970341;1346338;1347910;1351748;1352724;1357663;1363802;1363810;1439789;14519851;14576159;14593432;14610121;14616310;14623188;14645231;14668351;14702039;14744790;14745079;14761942;14970845;14983221;15050367;15123682;15131108;15140132;15145944;15146195;15148589;15203115;15208260;15215178;15247220;15258222;15266305;15277640;15304595;15342556;15469448;15488240;15489334;15539564;15555583;15557533;15583862;15591591;15609351;15639746;15684434;15748158;15775715;15837581;15846375;15850959;15862295;15946217;15987701;15997418;16004966;16009550;16025285;16051190;16099550;16099923;16119432;16120605;16156720;16159877;16169070;16175355;16187142;16192387;16215457;16215462;16217673;16263114;16286452;16287045;16294306;16298483;16314483;16315279;16324095;16342955;16344560;16432880;16434486;16443601;16460908;16478730;16519692;16533975;16537913;16543824;16545382;16547836;16580884;16582585;16672189;16674609;16704797;16713569;1671440;1672107;16750169;16764594;1677164;1678248;16824036;16825951;16825956;16831968;1683708;16847141;16847689;16858508;16889908;16897605;16908519;16914329;16921242;16925523;16934224;16950206;16987816;17023178;17029361;17047093;17092648;17121821;17134829;17149767;17156017;17192785;17202849;17242357;17260961;17276393;17313881;17334659;1736177;17385076;17409275;17410475;17414209;17449139;17472702;17497959;17500595;17519231;17539938;17559305;17560545;17570906;17709704;17822808;17827389;17873292;17965961;17987393;17996224;18006836;18025469;18029348;18038270;18051367;18188498;18191917;18204788;18217885;18218718;18236005;18236081;18247504;18275852;18325785;18332630;18347820;18349519;18372408;18406463;18413481;18419754;18423780;18425766;18436646;18443555;18445040;18478114;18482256;18505059;18508914;18539633;18549395;18549399;18563793;18597782;18619462;18638557;18665216;18691383;18706660;18720902;18722532;18786636;18810471;18830724;18930924;18955686;18959744;18990686;19008948;19010951;19030774;19035579;19051123;19056496;19056867;19064990;19074151;19077115;19081515;19099191;19129193;19140013;19156168;19158507;19164910;19172188;19196429;19204171;19210573;19212444;19218199;19226372;19228673;19249347;19278656;19321423;19327369;19351416;19363267;19369250;19416900;19476383;19477226;19495414;19524515;19534429;19542614;19556894;19558790;19583442;19587281;19597535;19601795;19602567;19606064;19607920;19643043;19675240;19690385;19696976;19697238;19698114;19709627;19710507;19725833;19728151;19734292;19786843;19807656;19822779;19882604;19889475;19910028;19911184;19917818;19923577;19927125;19996123;20004419;20005032;20028338;20035629;20036811;20036833;20049591;20077484;20105449;20109837;20145049;20175205;20195363;20198483;20301407;20392961;20413850;20422111;20453509;20465257;20473510;20487506;20506117;20515742;20515743;20515747;20526338;20526696;20529115;20541558;20547212;20547859;20552563;20562404;20564047;20564346;20573963;20574532;20576610;20583301;20583902;20592456;20593190;20613639;20625387;20650901;20661422;20685658;20694796;20711061;20718410;20724601;20799315;20804519;20816195;20838930;20861579;20870462;20880607;20919751;20923664;20930299;20932979;20949975;20964628;20970434;21029243;21058033;21062360;21071944;21094273;21107135;21107851;21116546;21119307;21193246;21209079;21212268;21232818;21257747;21265952;21293298;21296677;21297264;21298055;21301993;21320996;21323366;21338080;21356381;21385869;21439722;21445238;21451573;21453198;21478263;21478678;21508834;21552571;21559407;21593310;2159587;21597335;21600043;21616973;21631281;21654203;21689534;21743439;21763357;21795680;21799773;2180366;21804240;21827207;21833705;21839748;21841253;21857997;21875156;21900252;21911696;21920025;21943430;21957246;21957261;21980292;21980981;21983261;22002245;22028931;22031292;22032174;22036844;22046086;22076653;22128151;22129783;22137330;22155634;22184125;22210626;22252492;22318125;22356913;22363722;22384235;22411239;22484317;22505365;22511770;22558368;22561193;22584955;22615124;22658899;22669942;22675855;22676969;22685557;22763467;22788868;22791135;22796214;22820080;22842913;22860629;22861352;22874673;22876179;22895088;22895089;22915585;22918447;22930754;22936677;22967749;22972305;22978166;22987042;23022479;23090399;23115236;23131565;23175838;23209282;23225001;23225009;23225390;23256626;23276223;23283514;23319218;23324596;23386614;23392670;23398456;23399523;23405858;23406905;23406923;23436635;23449776;23467330;23565236;23577068;23614720;23625312;23627023;23637596;23638794;23764834;23785217;23787697;23792955;23825952;23843953;23857314;23857619;23907583;23911565;23959875;23967259;23974118;24047819;24086135;24112521;24121542;24145555;24224623;24225951;24329154;24338015;24398683;24493558;24519981;24857020;2564168;2567794;2572450;2783132;3014653;3755672;7485229;7572084;7592679;7630420;7642585;7699395;7783876;7902693;7902972;7906019;7913755;8105771;8364585;8461023;8676499;8797471;8797472;8909447;8962161;9266722;9384372;9473220;9482303;9786248;9799790 5621 A2A2V1;B2NI04;F7VJQ1;P04156;Q53YK7;X6RKS3 AB300823;AB300825;AB300826;ABBA01053856;AF030575;AF076976;AF085477;AF315723;AK090575;AK293312;AK295415;AK295943;AK312276;AL133396;AMYH02036628;AW452130;AY008282;AY219882;AY219883;AY458651;AY569456;BC012844;BC016809;BC022532;BG397054;BI669189;BK007887;BP251427;BT019496;CH471133;CR542039;CR542072;D00015;DA122620;DA297032;DB461478;DQ408531;HM459606;M13667;M13899;M81929;M81930;NG_009087;NM_000311;NM_001080121;NM_001080122;NM_001080123;NM_001271561;NM_183079;S71208;S71210;S71212;S79978;S80539;S80732;S80743;S83341;U29185;X82545;X83416 AAA19664;AAA60182;AAB20521;AAB20522;AAB20523;AAB21334;AAB35416;AAB50648;AAB50649;AAB50777;AAB59442;AAB59443;AAC05365;AAC62750;AAC78725;AAD46098;AAG21693;AAH12844;AAH22532;AAO83635;AAO83636;AAR21603;AAS80162;AAV38303;ABD63004;ABM82244;ABM85428;ADO16981;BAA00011;BAG32276;BAG32278;BAG32279;BAG35206;BAG52189;BAG56832;BAG58365;BAG58727;CAA57895;CAA58442;CAG46836;CAG46869;DAA34790;EAX10449;EAX10450;F7VJQ1;NP_000302;NP_001073590;NP_001073591;NP_001073592;NP_001258490;NP_898902;P04156 Hs.472010;Hs.610285;Hs.721670 1645285;1647401;1741609;1745441;1790359;1792100;1855829;2114030;2131476;2137175;2145015;2167480 D20S1014;GDB:181561;GDB:607655;PMC136957P1;PRNP;PRNP-2;RH47809;RH70248;RH71030;RH71032;SGC44304;WI-18738 ASCR;AltPrP;CD230;CJD;GSS;KURU;MGC26679;PRIP;PrP;PrP27-30;PrP33-35C;PrPc;p27-30 CD230 antigen;OTTHUMP00000030161;OTTHUMP00000030162;OTTHUMP00000030163;OTTHUMP00000161139;alternative prion protein;major prion protein;prion;prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia);prion protein PrP;prion-related protein APPROVED protein-coding ENSG00000171867 HGNC:9449 01453 123400;137440;176640;245300;600072;603218;606688 REVIEWED 736057 PROK1 prokineticin 1 The protein encoded by this gene induces proliferation, migration, and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. It has little or no effect on a variety of other endothelial and non-endothelial cell types. Its expression is restricted to the steroidogenic glands (ovary, testis, adrenal, and placenta), is induced by hypoxia, and often complementary to the expression of vascular endothelial growth factor (VEGF), suggesting that these molecules function in a coordinated manner. [provided by RefSeq, Sep 2011] 1 1 1 p21 109240977 109247165 + 110993788 110999976 + 110451166 110457354 + 1580863;6480464 11259612;11528470;12427552;12477932;12538479;12604792;12759245;12858543;12915658;12975309;15126578;15126581;15292351;15340161;16210375;16263331;16320832;16763065;17167981;17178891;17289879;17683928;18339712;18571163;18577758;19077468;19135668;19255255;19285664;19523441;19602057;19801577;19913121;20172976;20400074;20628086;20795791;20847187;21098624;21385081;21546446;21858136;21858178;21876489;22138749;22941044;23891065;23972922;24324064 84432 P58294 ABBA01068392;AF333024;AL358215;AL390797;AMYH02001725;AY029225;AY358683;BC025399;BM544315;CH471122;CS023555;CS583905;NM_032414 AAH25399;AAK33111;AAK49918;AAQ89046;ABM82496;ABM85689;CAI59103;CAN87427;EAW56449;EAW56450;NP_115790;P58294 Hs.514793 1765713;2178487 D1S3608;SHGC-149149 PK1;PRK1 EG-VEGF;EGVEGF;OTTHUMP00000013289;black mamba toxin-related protein;endocrine-gland-derived vascular endothelial growth factor;mambakine;prokineticin-1 APPROVED protein-coding ENSG00000143125 HGNC:18454 06946 606233 VALIDATED 1344010 PROP1 PROP paired-like homeobox 1 This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011] 5 5 5 q35.3 6578 10585 + 177419236 177423243 - 177992235 177996242 - 704351;1601504;1580863;1601503;6480464;7240710;8554872;8699517 15941866;9462743;9768691 10084575;10199788;10323394;10946881;11134108;11283314;11549703;11822586;12006708;12464226;12477932;12519826;12717343;14646405;14714741;15126542;15302300;15472232;15489334;15531542;15963055;16678101;16703408;17526936;17526949;18157385;18653712;19128366;19453261;19913121;20181723;20301521;20381582;20395664;20534763;20628086;20694410;21132537;21761366;22024773;22086512;22745233;22801565;23624138;23652424;23692781;23732115;24178788;9661653;9685346;9745452;9824293;9920061 5626 O75360 ABBA01039251;AC114936;AC136940;AC236592;AF041141;AF076214;AF076215;AMYH02012859;BC069076;CH471390;NG_015889;NM_006261 AAC27900;AAC77453;AAC77454;AAH69076;EAW50395;NP_006252;O75360 Hs.158301 5491677 MARC_7471-7472:1004991933:1 CPHD2;PROP-1 OTTHUMP00000161487;homeobox protein prophet of Pit-1;pituitary-specific homeodomain factor;prophet of Pit1, paired-like homeodomain transcription factor APPROVED protein-coding ENSG00000175325 HGNC:9455 03325 262600;601538 REVIEWED 1319041 PROSC proline synthetase co-transcribed homolog (bacterial) ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; intracellular; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 8 8 8 p11.2 36572050 36589221 + 37619680 37637286 + 37762162 37779768 + 1580863;6480464;8554872 10496079;11230166;11256614;12477932;14702039;15489334;16344560;21139048;22863883;24144296;24816145;8889548 11212 E5RFX7;E5RFZ4;E5RG77;H0YBG2;O94903 AB018566;ABBA01023570;ABBA01023571;ABBA01023572;AC138356;AI355650;AK021923;AK291135;AL136616;AMYH02017813;AW028116;BC012334;BM984988;CH471080;CR533532;DA086552;NM_007198;XM_005273395 AAH12334;ACE86554;ACE87236;BAA36842;BAF83824;BAG51058;CAB66551;CAG38563;EAW63360;EAW63361;EAW63362;EAW63363;EAW63364;NP_009129;O94903;XP_005273452 Hs.304792;Hs.608177 1684908;1763885;1847673;1850969;1853090 RH44321;RH68230;RH76760;SHGC-147554;WI-15099 FLJ11861 OTTHUMP00000225602;OTTHUMP00000225608;proline synthase co-transcribed bacterial homolog protein;proline synthetase co-transcribed (bacterial homolog);proline synthetase co-transcribed bacterial homolog protein protein-coding ENSG00000147471 HGNC:9457 16060 604436 VALIDATED 5129241 PRORY proline rich, Y-linked Y Y q11.223 23545072 23548149 - 21382961 21386360 - 14702039 100533178 Q9H606 ABBA01057541;AC010086;AK026367;CH471208;NM_001282471 BAB15461;EAX11709;NP_001269400;Q9H606 CYorf17 Putative uncharacterized protein CYorf17;proline-rich protein, Y-linked APPROVED protein-coding ENSG00000183146 HGNC:38732 VALIDATED 2303855 PRORSD1P prolyl-tRNA synthetase associated domain containing 1, pseudogene ENCODES a protein that exhibits aminoacyl-tRNA editing activity (inferred); INVOLVED IN regulation of translational fidelity (inferred); INTERACTS WITH quercetin; quinolin-8-ol; valproic acid 2 2 2 p16.1 55349956 55352107 + 55509455 55511608 + 55282319 55284472 + 6480464 11181995;23210460;8889548 344405 A6NEY8 ABBA01075266;AC012358;AMYH02003849;BU607366;CH471053;NR_027258 A6NEY8;EAX00102 Hs.445292 NCRNA00117;PRDXDD1P;Prdxdd1;Ybakd1 APPROVED pseudo ENSG00000162997 HGNC:34379 VALIDATED 1353767 PROM2 prominin 2 This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 2 2 2 q11.1 90293346 90310195 + 95939674 95966067 + 95274305 95300319 + 633875;1580863;6480464 12514187 12477932;12975309;14702039;16344560;17145811;18536929;19056867;19724856;20333396;23583380 150696 B2R879;F8WDW5;Q8N271 ABBA01003563;ABBA01003564;ABBA01003565;AC009238;AF245303;AF245304;AI928825;AK026052;AK091175;AK091408;AK290366;AK313267;AMYH02004301;AY358377;BC025736;BC113877;BC114525;CH471219;DB003233;NM_001165977;NM_001165978;NM_144707;XM_005263879;XM_005263880;XM_005263881;XM_006712301 AAI13878;AAI14526;AAM10541;AAM10542;AAQ88743;AAY14751;BAC03599;BAC03657;BAF83055;BAG36076;EAX10718;EAX10719;EAX10720;EAX10721;EAX10722;NP_001159449;NP_001159450;NP_653308;Q8N271;XP_005263936;XP_005263937;XP_005263938;XP_006712364 Hs.437376;Hs.469313 5022588;5037552 D5S1597E;D8S2279 MGC138714;PROM-2;PROML2 OTTHUMP00000160939;OTTHUMP00000207357;hPROML2;prominin-2;prominin-like protein 2;prominin-related protein APPROVED protein-coding ENSG00000155066 HGNC:20685 17912 REVIEWED 1319730 PROSER1 proline and serine rich 1 This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012] 13 13 13 q13.3 20638011 20666260 - 39584002 39612213 - 39009865 39038076 - 6480464;8554872 12477932;14702039;15057823;15489334;16344560;17761849;18246054;19471022;20379614 80209 Q5JS34;Q5JS36;Q86XN7 AA598728;AB107354;ABBA01021315;AK022723;AK024308;AK074360;AK299663;AL445590;AL522407;AL833854;AL834435;AMYH02027896;AW294041;BC042652;BC053566;BC064348;BX647471;CH471075;DA106195;DA786460;DR001207;NM_025138;XM_005266545 AAH53566;AAH64348;BAB14204;BAC67659;BAH13093;CAD38713;CAD39095;CAH56138;EAX08610;EAX08611;NP_079414;Q86XN7;XP_005266602 Hs.318526 1648125;1654131;1681570;5106586 G31027;RH92202;STS-N25548;STS-N29486 C13orf23;FLJ12661;FLJ23780;RP11-50D16.2;bA50D16.2 OTTHUMP00000018292;hypothetical protein LOC80209;proline and serine-rich protein 1 APPROVED protein-coding ENSG00000120685 HGNC:20291 12616 REVIEWED 1351835 PROSER2 proline and serine rich 2 INTERACTS WITH amiodarone; benzo[a]pyrene diol epoxide I; calcitriol 10 10 10 p14 11793985 11842841 + 11865295 11914276 + 11823398 11872277 + 737633;6480464 12477932 15164054;15302935;15489334;21044950;21832049;21988832;23455922 254427 D3DRR9;Q86WR7;X6RHS9 ABBA01034680;ABBA01034681;ABBA01034682;AL138898;AMYH02022132;AMYH02022133;AMYH02022134;AMYH02022135;AMYH02022136;BC007547;BC017269;BC029134;BC040040;BC048800;CH471072;KF455208;NM_153256;XM_005252440 AAH07547;AAH17269;AAH29134;AAH48800;EAW86336;EAW86337;EAW86338;EAW86339;NP_694988;Q86WR7;XP_005252497 Hs.435775 1663701;1683050;1684584;1775298;2124916 RH44705;RH70054;RH91933;RH94221;SHGC-33566 C10orf47;MGC35403 OTTHUMP00000019082;OTTHUMP00000035224;hypothetical protein LOC254427;proline and serine-rich protein 2;uncharacterized protein C10orf47 APPROVED protein-coding ENSG00000148426 HGNC:23728 10697 VALIDATED 7176316 PROSER2-AS1 PROSER2 antisense RNA 1 INTERACTS WITH silicon dioxide 10 10 10 p14 11820186 11865457 - 11891607 11936709 - 11849608 11894710 - 6480464 14702039 219731 AA609739;ABBA01034680;AK056703;AL138898;AMYH02022134;AMYH02022135;AMYH02022136;BC032757;CB960510;HG502683;HG502684;KF455206;KF455208;KF455211;NR_038222 Hs.576787 1669531;1683050;1684584;5022651 D10S2376;D11S2921;RH91933;RH94221 RP11-401F24.4 ncrna ENSG00000225778 HGNC:27343 VALIDATED 1342781 PROS1 protein S (alpha) This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. [provided by RefSeq, Feb 2009] 3 3 3 q11.2 91974425 92076408 - 93591881 93692934 - 93873037 93974090 - 1578677;1599209;1580863;1578508;2300011;6480464;6907045;7240710;8554872;8699517 12907438;12970121;16995903;9657428 10447256;10593904;10744423;11467946;11686322;11776305;11843280;11848449;11858485;11927129;12193728;12193972;12413608;12447359;12477932;12490286;12492479;12871408;14515184;14607961;14630798;14652633;14718574;15096498;15175796;15292065;1531628;1534488;15456488;15489334;15670064;15748239;15893367;15978566;16100035;16105054;1615482;16229836;16335952;16344560;16363235;16461766;16488980;16493484;16607073;16672217;16720551;16840717;16868938;16885060;16935856;16961607;16961608;16969634;17157360;17393035;17597997;17849042;17890957;17938802;17958742;18029348;18045239;18067603;18250462;18278202;18322254;1833851;18419747;18424440;18433462;18435454;18485091;18680534;18768782;18779332;18784085;18824642;18841302;18922854;18945960;18954896;19004141;19128822;19244162;19404554;19437370;19466456;19492164;19630792;19679847;19744001;19815836;19874463;19878975;19924026;20002538;20022358;20088940;20200160;20308596;20348395;20378562;20398916;20452482;20484936;20492471;20514628;20539904;20673868;20693287;20705334;20811787;20880255;20881312;20926118;21172841;21190511;21384080;2143091;214811;2148110;2148111;2148653;21486865;21508412;21569220;21811774;21979881;21988832;22104477;22261441;22268729;22273984;22318644;22371115;22627591;22627709;22908226;23065156;23074276;23238804;23370801;23402259;23407778;23473639;23580615;23721692;23789915;23813890;23850380;23892573;24014240;24233490;24331211;2461936;24740810;24992033;2526663;2820795;2940598;2944113;2952034;2961379;2974696;3467362;6239102;6454142;7620160;8146182;8298131;8422460;8428962;8616098;8641360;8889548;9252393;9628846 5627 C9K0R0;G5E9F8;H7BXT0;P07225 AB083386;AB083387;AB083389;AB083390;AB083391;AB083392;AB083393;AB083394;AB083395;AB083396;AB083687;AB083688;AB084900;AB084901;AB084902;AB084903;AB084904;AB087994;ABBA01026971;ABBA01026972;ABBA01026973;AC117474;AC144562;AC245469;AI139337;AK292994;AK303895;AMYH02007245;AMYH02007246;AY308744;AY605182;BC015801;BE677834;BU688598;CH471052;DB275740;DQ453481;DQ453483;DQ453484;DQ902690;M14338;M15036;M57853;NG_009813;NM_000313;S81775;S81777;X12892;XM_005247626;Y00692 AAA36479;AAA60181;AAA60357;AAD14374;AAD14375;AAH15801;AAP45054;AAT37717;ABD96173;ABD96174;ABD96175;ABI93128;ABM83315;ABM86528;BAC21163;BAC21164;BAC54134;BAC54135;BAC54137;BAC54138;BAC54139;BAC54140;BAC54141;BAC54142;BAC54143;BAC54144;BAC54253;BAC54254;BAC54255;BAC54256;BAC54257;BAC55115;BAF85683;BAG64828;CAA31383;CAA68687;CAA68688;EAW79903;EAW79904;EAW79905;NP_000304;P07225;XP_005247683 Hs.64016 1674865;1741457;1790361 D3S3999;GDB:181221;PROS1 PROS;PS21;PS22;PS23;PS24;PS25;PSA;THPH5;THPH6 OTTHUMP00000197145;OTTHUMP00000197146;protein Sa;vitamin K-dependent plasma protein S;vitamin K-dependent protein S APPROVED protein-coding ENSG00000184500 HGNC:9456 01473 176880;612336;614514 REVIEWED 1353474 PROSP protein S pseudogene (beta) 3 3 3 p11.1 91004659 91044109 - 90250256 90291214 - 90201106 90242064 - 2148111;2148112 5628 ABBA01004647;ABBA01004648;ABBA01004649;AC139337;AMYH02007242;M36565;NG_001179 1340941;1674865 D3S2448;D3S3999 PROS2 pseudo HGNC:9458 INFERRED 6481128 PROX1-IT1 PROX1 intronic transcript 1 (non-protein coding) 100874297 AC011700 miscrna HGNC:41372 1603570 PROSER3 proline and serine rich 3 INTERACTS WITH theophylline; zoledronic acid 19 19 19 q13.12 32962521 32973554 + 36249044 36260077 + 35758143 35769175 + 6480464 12477932;14702039;16344560;19322201 148137 A0A067XG55;C9JFW7;F5GXU6;F8W7U6;H0YFI8;M0QY86;M0QZ53;Q2NL68;S4R3L1 ABBA01018764;AC002398;AK055219;AK124144;AL833894;AMYH02035990;BC017947;BC110893;DB086668;KF495725;NM_001039887 AAH17947;AAI10894;BAB70878;CAD38750;NP_001034976;Q2NL68 Hs.527982 5014051;5015619;5022200;5022588;5037552;5117897;5118444 D11S3114;D11S3316;D5S1597E;D8S2278;D8S2279;GDB:631813;L18426 C19orf55;DKFZp434C2231;FLJ30657;MGC131952 OTTHUMP00000237932;hypothetical protein LOC148137;proline and serine-rich protein 3;uncharacterized protein C19orf55 APPROVED protein-coding ENSG00000167595 HGNC:25204 14079 VALIDATED 5686964 PROX1-AS1 PROX1 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 1 1 1 q32.3 187214109 187362638 - 213995227 214160147 - 213821884 213988346 - 8554872 14702039;20064070;20081858;22159054;22581228 100505832 ABBA01048150;ABBA01048151;AC011700;AC096639;AK092251;AMYH02002661;XR_247058;XR_248694;XR_250949;XR_425092;XR_425093;XR_425094;XR_426898;XR_426899;XR_426900;XR_431342;XR_431343;XR_431344 1341875;1682802;1707704;1716333;1759439;1852375;1854603;2125023;2178626 AL009477;D1S2646;G29130;RH121196;RH12285;SHGC-150731;SHGC-76334;SHGC-76350;SHGC-82025 APPROVED ncrna HGNC:43656 MODEL 1606668 PROX2 prospero homeobox 2 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH pirinixic acid; pregnenolone 16alpha-carbonitrile (ortholog) 14 14 14 q24.3 55360202 55368906 - 75319736 75330562 - 74853033 74863859 - 6480464 12477932;14702039;21490707;23382691 283571 G3V3G0;Q3B8N5 ABBA01030712;AC006530;AK094068;AMYH02029525;BC105720;BC105721;BC105927;CH471061;NM_001080408;NM_001243007;XM_005267543 AAD30180;AAI05721;AAI05928;BAC04278;EAW81198;NP_001073877;NP_001229936;Q3B8N5;XP_005267600 Hs.675293 1340684 D14S999 FLJ36749;PROX-2 homeobox prospero-like protein PROX2;prospero homeobox protein 2 protein-coding ENSG00000119608 HGNC:26715 615094 VALIDATED 1315763 PROX1 prospero homeobox 1 The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 1 1 1 q41 187384890 187432754 + 214161278 214214853 + 213987935 214041510 + 1580863;5133273;6480464;8554872 17042797 10080188;11069920;11719431;11789987;11850194;11943779;12060670;12198161;12412020;12477932;12692551;12874782;15143342;15205472;15232737;15604093;16308102;16344560;16488887;16525637;17062673;17069925;17217617;17415710;17533110;17761831;18400094;18455124;18564921;18580962;18815287;18948102;19160541;19210544;19264593;19339011;19460752;19706680;19825936;19901262;19940551;20064070;20081858;20084020;20185807;20211142;20351309;20419449;20453716;20490451;20571754;20889853;20975337;21103350;21452064;21500548;21667034;21970873;21988832;22023334;22067331;22382784;22508481;22532251;22539871;22581228;22647876;22719258;22733308;22805777;22833470;22982861;22984506;22992776;23045246;23059885;23274905;23291986;23345397;23395615;23505027;23626788;23718855;23818313;23898075;8812486 5629 C9JU29;Q92786;U3KPY6 ABBA01048149;ABBA01048150;AC011700;AK025453;AK298182;AL606537;AMYH02002661;BC024201;CH471100;DA743374;DA802102;DB086260;NM_001270616;NM_002763;U44060;XM_005273194;XM_005273195;XM_005273196;XM_006711455 AAC50656;AAH24201;ABZ92390;BAG60453;EAW93359;EAW93360;NP_001257545;NP_002754;Q92786;XP_005273251;XP_005273252;XP_005273253;XP_006711518 Hs.741808;Hs.744931 1670863;1774507;1853180;1855406;2108395;2130300;2153200 D1S3515;PROX1_8568;RH78799;SHGC-31006;SHGC-76335;SHGC-76345;SHGC-76346 PROX-1 OTTHUMP00000035023;OTTHUMP00000216821;homeobox prospero-like protein PROX1;prospero homeobox protein 1;prospero-related homeobox 1 APPROVED protein-coding ENSG00000117707 HGNC:9459 03330 601546 REVIEWED 1345263 PROM1 prominin 1 This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 4 p15.32 16434397 16550164 - 15969849 16085723 - 15968226 16084059 - 1580863;6480464;7240710;8554872;8699517 10075457;10205271;10587575;11076863;11467842;12042327;12477932;12657606;12799292;14630820;14702039;15115691;15226377;15231568;15254585;15489336;15558321;16303743;16344560;16381901;16439688;16502470;16809613;16885410;16914572;17077324;17077937;17081983;17122772;17205516;17253947;17388661;17487431;17498271;17545092;17594720;17605048;17605847;17785371;17868344;17883595;17912948;17977646;17999603;18096722;18172261;18192867;18371181;18374086;18398462;18398820;18402255;18403755;18410526;18497883;18511311;18542072;18568776;18602031;18644979;18645205;18654668;18679414;18702870;18754869;18781171;18802032;18829544;18829568;18836486;18853445;18985161;19017033;19047148;19056867;19092120;19147788;19153665;19190083;19216024;19342601;19369008;19384922;19385971;19404394;19430532;19509143;19583834;19583859;19584075;19621338;19626493;19657699;19676044;19718270;19718438;19723143;19724847;19724856;19744348;19752721;19760928;19786935;19805294;19816957;19842219;19904829;19940551;20023382;20042663;20056076;20062010;20068153;20081809;20167130;20181261;20196115;20301590;20309962;20333645;20346143;20347795;20379614;20379837;20393116;20395004;20428792;20487522;20502714;20526812;20530428;20530554;20551139;20560029;20564348;20587144;20593500;20596619;20606680;20617370;20707712;20711432;20717756;20717901;20800650;20800872;20853315;20854168;20859302;20872808;20878131;20936779;20970309;21054902;21064103;21082235;21122138;21127401;21174061;21187924;21220328;21238532;21276138;21304102;21331808;21360712;21372740;21385990;21412503;21415057;21435437;21436631;21438906;21448425;21457403;21462307;21479688;21486962;21508381;21559522;21591261;21602936;21695188;21764578;21778785;21798073;21801380;21808992;21826669;21829201;21868340;21898409;21900452;21901757;21912092;21917149;21931765;21937449;21947321;21959795;21966538;21994122;22008114;22025269;22049795;22072879;22076958;22079466;22119814;22123613;22130040;22130902;22140506;22156015;22157717;22178090;22199321;22231565;22236447;22246526;22246536;22315171;22322379;22337994;22394107;22395309;22395973;22408058;22431923;22448662;22453233;22496204;22514116;22529031;22571340;22614155;22623141;22652175;22664874;22668828;22739150;22740326;22748652;22782852;22830353;22842095;22865455;22871210;22922842;22944295;22945648;22960282;22964035;22964855;23045288;23049880;23055022;23064961;23065858;23071857;23084749;23106300;23138940;23150059;23150174;23170850;23195431;23206244;23216238;23216926;23233126;23245659;23252868;23276935;23318676;23322518;23326490;23340741;23396254;23408993;23409180;23437259;23438193;23448401;23470693;23495873;23532815;23533603;23545719;23558457;23569237;23584268;23593389;23604326;23609373;23615455;23619912;23658323;23661576;23701640;23708735;23715500;23734191;23777983;23840432;23851436;23861881;23917144;23962788;23991844;24054866;24102054;24129546;24146103;24228135;24299311;24300467;24330829;24335569;24366104;24436149;24468059;24511670;24556617;24630518;24727449;8125298;9389720;9389721 8842 D6RBI0;D6RCC3;D6RIF3;H0Y9D4;H0Y9M7;H0Y9Q5;O43490 AA622198;ABBA01032575;ABBA01032576;ABBA01032577;ABBA01032578;ABBA01032579;AC005598;AC108063;AF027208;AF117225;AF507034;AK025391;AK027420;AK027422;AK075411;AK226033;AK310415;AK314529;AK315889;AMYH02008806;AMYH02008807;AX816200;AX879278;AY449689;AY449690;AY449691;AY449692;AY449693;BC012089;CH471069;DB326234;NG_011696;NM_001145847;NM_001145848;NM_001145849;NM_001145850;NM_001145851;NM_001145852;NM_006017;XM_005248195;XM_005248196;XM_006713973;XM_006713974 AAB92514;AAH12089;AAM33415;AAO15307;AAS19705;AAS19706;AAS19707;AAS19708;AAS19709;ABM86378;ABW03789;BAF98780;BAG51316;BAG51317;BAG52133;CAE83895;CAE90442;CAL38231;EAW92750;EAW92751;EAW92752;NP_001139319;NP_001139320;NP_001139321;NP_001139322;NP_001139323;NP_001139324;NP_006008;O43490;XP_005248252;XP_005248253;XP_006714036;XP_006714037 Hs.614734 1298180;1298205;1331564;1335107;1336082;1339710;1339841;1342118;1659206;1664521;1723057;1726801;1754959;1764183;1765675;1850221;1850635;1851013;2110213;2115411;2127108;7186345 D4S1582;D4S1601;D4S2397;D4S3022;D4S3023;D4S3048;D4S391;D4S403;D4S497;G16721;G33894;G62790;RH121881;SHGC-141874;SHGC-147822;SHGC-149115;SHGC-24088;SHGC-7038;SHGC4-910;WI-22012;stb448g15.p4 AC133;CD133;CORD12;MCDR2;MSTP061;PROML1;RP41;STGD4 OTTHUMP00000217744;OTTHUMP00000217745;OTTHUMP00000217746;antigen AC133;hProminin;hematopoietic stem cell antigen;prominin-1;prominin-like 1;prominin-like protein 1 APPROVED protein-coding ENSG00000007062 HGNC:9454 05079 603786;604365;608051;612095;612657 REVIEWED 1353539 PRPF19P1 PRPF19 pseudogene 1 18 18 18 60456796 60457714 - 63735963 63736881 - 66068727 66069645 - 100422496;399695 ABBA01056246;AC007632;AMYH02034904;NG_026300 HsT1682;PRP19P;PRPF19P APPROVED pseudo HGNC:23182 INFERRED 731692 PRPF18 pre-mRNA processing factor 18 Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008] 10 10 10 p13 13556054 13599997 + 13628939 13672868 + 13586939 13630868 + 1580863;6480464;6907045 11823439;12477932;15489334;16344560;16385451;19471022;20379614;21890473;22213562;22939629;24025145;24816145;8436300;9000057 8559 Q5T9P7;Q5T9P8;Q99633 ABBA01034625;AF087997;AI580379;AK314814;AL157392;AMYH02022180;AU142253;BC000794;BC002572;CH471072;NM_003675;U51990;XM_005252634;XM_005252636 AAB41490;AAH00794;BAG37337;EAW86280;EAW86281;EAW86282;EAW86283;NP_003666;Q99633;XP_005252691;XP_005252693 Hs.729158 1654167;1736108;1760273;2132413;2173348;2183261 D10S1382E;RH70670;SHGC-132597;SHGC-3203;SHGC-36407;SHGC-6772 FLJ10210;PRP18;hPrp18 OTTHUMP00000019146;PRP18 homolog;PRP18 pre-mRNA processing factor 18 homolog;PRP18 pre-mRNA processing factor 18 homolog(PRPF18);potassium channel regulatory factor;pre-mRNA-splicing factor 18 APPROVED protein-coding ENSG00000165630 HGNC:17351 05407 604993 REVIEWED 1318570 PROZ protein Z, vitamin K-dependent plasma glycoprotein This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 13 13 13 q34 94638628 94652355 + 113812968 113826698 + 113158654 113172384 + 1358564;1580691;1580692;1580693;1580720;1580863;6480464 12297123;12970515;14507116;14671240;15879328 11289354;11858503;12477932;12490280;12623836;14652653;15314579;15489334;15626740;15748239;15841316;16120837;16155788;16191090;16807661;17048007;17403098;17456189;17701666;17903294;17958743;18000618;18177644;18180611;18246466;18378283;18677630;1872862;18828054;18841275;19026439;19050305;19056867;19124455;19132212;19185907;19188667;19572077;19578796;19729601;19796528;19913121;20024489;20076855;20180321;2040612;20416992;20427285;20460354;20628086;21233768;2129367;21479979;21691673;21837382;21975032;22297560;22424030;2244898;22559296;22576309;22689435;22786881;22960740;23269381;23420821;23690629;23846529;2403355;24158387;24315319;24960590;2511201;6707212;9578570 8858 P22891 AB033749;ABBA01019862;ABBA01019863;AF440358;AI492996;AL137002;AMYH02028739;BC074906;BC074907;CH471085;EF445049;M55670;M55671;M59303;NG_031993;NM_001256134;NM_003891 AAA36499;AAA36500;AAA36501;AAH74906;AAH74907;AAL27631;ACA06105;BAA85763;BAA85764;EAX09186;EAX09187;EAX09188;NP_001243063;NP_003882;P22891 Hs.1011 1854522;2177299 D13S1662;STS-M55671 PZ OTTHUMP00000018738;OTTHUMP00000018739;vitamin K-dependent protein Z APPROVED protein-coding ENSG00000126231 HGNC:9460 07182 176895;614024 REVIEWED 7176847 PRPF38AP1 PRP38 domain containing A pseudogene 1 10 10 10 p14 8128594 8129528 + 8203223 8204157 + 8161260 8162194 + 389935 ABBA01034724;AL357712;AMYH02022093;NG_022160 pseudo HGNC:44692 INFERRED 1602851 PRPF38A pre-mRNA processing factor 38A ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN spliceosomal complex (inferred); INTERACTS WITH bisphenol A; calcitriol; formaldehyde 1 1 1 p32.3 51156917 51170690 + 52870219 52883992 + 52404547 52418320 + 6480464;6907045 12477932;14702039;15302935;16169070;16344560;18781797;18854154;21832049;21890473;21900206;21906983;22113938;22365833;23455924;23602568;24457600 84950 Q8NAV1 ABBA01074774;AK027842;AK092038;AK315621;AL138849;AL513218;AMYH02001018;BC000777;BC063655;BC105004;BC105006;BE465896;BF223635;BU508261;CH471059;DA055001;NM_032864 AAH00777;AAH63655;AAI05005;AAI05007;BAB55405;BAC03796;BAG37989;EAX06782;NP_116253;Q8NAV1 Hs.5301 2134965;5491734 D1S3532;PRPF38A FLJ14936;MGC3320;Prp38;RP5-965L7.1 OTTHUMP00000009912;PRP38 pre-mRNA processing factor 38 domain containing A;pre-mRNA-splicing factor 38A APPROVED protein-coding HGNC:25930 10972 VALIDATED 7175971 PRPF38AP2 PRP38 domain containing A pseudogene 2 10 10 10 p12.33 17552477 17553407 + 17619284 17620214 + 17577285 17578215 + 100131947 ABBA01034553;AC069542;AMYH02022253;NG_022162 pseudo HGNC:44693 INFERRED 1353674 PRPF19 pre-mRNA processing factor 19 PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM, Sep 2008] 11 11 11 q12.2 58018905 58034947 - 60658019 60674061 - 60890547 60906589 - 737633;1302471;1580863;6480464;6907045 12477932;12960389 10404385;11082287;11101529;11435423;11790298;11991638;12429849;15175653;15324660;15489334;15635413;15660529;16159877;16189514;16196087;16223718;16332694;16388800;17276391;17283042;17332742;17349974;17353931;18263876;19188445;19596686;19641227;19738201;19946888;20020773;20176811;20360068;20416268;20508642;20595234;20599946;21081666;21139048;21145461;21149631;21385873;21536736;21549307;21639856;21890473;21906983;21988832;22053931;22079093;22174317;22178446;22365833;22446626;22529335;22569250;22751105;22863883;22939624;22939629;22967061;23000965;23022380;23022480;23084401;23220010;23443559;23455922;23862649;24069358;24244333;24332808;24457600;24598747;24654937;24778252;24816145;25027693 27339 F5GY56;F5H2I0;H0YGF3;H0YGZ5;Q9UMS4 ABBA01021516;ABBA01021517;AF086469;AJ131186;AL555169;AMYH02024876;AP000777;AP003721;AW673738;BC008719;BC018665;BC018698;CH471076;NM_014502 AAH08719;AAH18665;AAH18698;ABM83929;ABM87248;CAB51857;EAW73904;EAW73905;NP_055317;Q9UMS4 Hs.502705 2140290 SHGC-57748 NMP200;PRP19;PSO4;SNEV;UBOX4;hPSO4 OTTHUMP00000236892;OTTHUMP00000236895;PRP19/PSO4 homolog;PRP19/PSO4 pre-mRNA processing factor 19 homolog;nuclear matrix protein 200;nuclear matrix protein NMP200 related to splicing factor PRP19;pre-mRNA-processing factor 19;prp19/pso4 homolog (s. cerevisiae);psoralen 4;senescence evasion factor APPROVED protein-coding ENSG00000110107 HGNC:17896 12214 608330 VALIDATED 1318626 PRPF39 pre-mRNA processing factor 39 INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; nickel atom 14 14 14 q21.2 25414556 25446057 + 45553302 45584804 + 45084099 45115601 + 1580863;6480464 12477932;14702039;15489334;16344560;18029348;21081666;21139048;21145461;22773733;22863883;24250222 55015 F8WB90;G3V5M7;H0YJR1;H0YJY9;Q86UA1 AA290697;ABBA01018048;ABBA01018049;AI476677;AK000673;AK001990;AK127382;AK307530;AK308415;AL121809;AL599626;AMYH02029101;AMYH02029102;BC020655;BC028683;BC051886;BC125126;BC125127;CH471078;DB339898;DC306976;NM_017922 AAH20655;AAH51886;AAI25127;AAI25128;BAA91318;BAA92024;EAW65786;EAW65787;EAW65788;NP_060392;Q86UA1 Hs.274337 1654711;1684210;1736390;2179630;5022578 D14S649E;D1S1423;G35427;RH91677;SHGC-31929 FLJ11128;FLJ20666;FLJ45460;MGC149842;MGC149843 OTTHUMP00000198297;PRP39 homolog;PRP39 pre-mRNA processing factor 39 homolog;pre-mRNA-processing factor 39;prp39 pre-mrna processing factor 39 homolog (yeast) APPROVED protein-coding ENSG00000185246 HGNC:20314 17913 614907 VALIDATED 1605670 PRPF38B pre-mRNA processing factor 38B ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN spliceosomal complex (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-nicotine; benzo[a]pyrene diol epoxide I 1 1 1 p13.3 107504760 107514241 + 109234932 109244425 + 108692310 108701803 + 6480464;6907045 12477932;12601173;14702039;15302935;15324660;15342556;16083285;16344560;19460752;19615732;23537643;24816145 55119 Q5VTL8;Q69YH0 ABBA01068354;AK001192;AL160171;AL591719;AL833950;AMYH02001700;AY211915;BC007757;BC009453;BC016296;BC024275;BC034581;BC040127;BC053838;BC107801;BC130346;BC132963;BC144243;BP198449;CH471122;DA372902;NM_018061;NR_037185;XM_006710726 AAH07757;AAH16296;AAH24275;AAH34581;AAH40127;AAH53838;AAI07802;AAI30347;AAI32964;AAO65168;BAA91546;CAH10702;EAW56327;EAW56328;NP_060531;Q5VTL8;XP_006710789 Hs.342307 1665223;1675401;1690698;1693202;1746001;2145352;2164426 AL033553;RH125928;RH45744;RH79755;RH91206;SHGC-32788;SHGC-75252 FLJ10330;MGC163218;MGC41809;NET1;RP11-293A10.1 OTTHUMP00000012660;OTTHUMP00000012661;PRP38 pre-mRNA processing factor 38 domain containing B;pre-mRNA-splicing factor 38B;sarcoma antigen NY-SAR-27 APPROVED protein-coding ENSG00000134186 HGNC:25512 07664 VALIDATED 1321525 PRPF3 pre-mRNA processing factor 3 The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008] 1 1 1 q21.1 123409676 123441464 + 150293928 150325704 + 150321479 150353228 + 1599535;6480464;6907045;8554872;8699517 11773002 10713041;11350945;11823439;11971898;12374753;12456665;12477932;12714658;12875835;15085354;15257298;15314151;15452143;15489334;15541726;15635413;16055720;16159877;16189514;16565220;16723661;17081983;17332742;17353931;17517693;17643375;17932117;18026141;18029348;18211889;18274552;18395097;18553058;19322201;19471022;19596686;19615732;20020773;20301590;20309403;20360068;20595234;20801516;21139048;21378395;21693764;21890473;22365833;22678362;22939629;23443559;23453885;24250222;24550385;24778252;24816145;25015289;8125298;8842740;9328476;9404889;9521884;9600251 9129 O43395 ABBA01049335;ABBA01049336;ABBA01049337;AC242988;AF001947;AF016370;AK222825;AK297139;AK297265;AK299980;AK309330;AK310241;AK311653;AK312891;AL611942;AMYH02001845;AMYH02001846;AMYH02001847;AMYH02001848;BC000184;BC001954;BQ002848;CH471121;DC407158;NG_008245;NM_004698;XR_241103;XR_241104 AAC09069;AAC51926;AAH00184;AAH01954;ABM83779;ABM87099;BAD96545;BAG35738;BAG59640;BAG59740;BAG61801;EAW53556;NP_004689;O43395 Hs.11776 1331579;1337416;1338358;1340333;1341138;1774781;2108397;5092788 A006E14;D10S1692;D1S2345;D1S2858;D1S422;D1S498;G32330;PRPF3_8902 HPRP3;HPRP3P;PRP3;Prp3p;RP18;SNRNP90 OTTHUMP00000014935;PRP3 pre-mRNA processing factor 3 homolog;U4/U6 small nuclear ribonucleoprotein Prp3;U4/U6 snRNP 90 kDa protein;U4/U6-associated RNA splicing factor;pre-mRNA-splicing factor 3;prp3 pre-mrna processing factor 3 homolog (yeast) APPROVED protein-coding ENSG00000117360 HGNC:17348 07389 607301 REVIEWED 1322687 PRPF4 pre-mRNA processing factor 4 The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 9 q31-q33 86685588 86702671 + 116037914 116056079 + 113275634 113293799 + 1580863;6480464;6907045;8554872 11350945;11418604;11971898;11971955;12226669;12477932;12875835;12907720;15257298;15452143;15452250;15489334;15635413;15761153;16055720;16169070;16196087;16226712;16344560;16723661;17513757;17620599;17643375;17998396;18029348;18687998;19615732;19738201;20360068;21139048;21145461;21832049;21890473;22365833;22446626;22863883;22939629;23349634;23443559;23602568;23667531;24003220;24654937;8125298;9000057;9257651;9328476;9404889;9521884;9570313 9128 O43172;Q5T1M7 AB209797;ABBA01042689;ABBA01042690;AF001687;AF016369;AK225056;AK313131;AL449305;AMYH02021508;AMYH02021509;AW052006;AY572489;BC001588;BC007424;CA420073;CH471090;CR457105;DA815191;NG_034225;NM_001244926;NM_004697;U82756;XM_005252300 AAB87640;AAC02261;AAC51925;AAH01588;AAH07424;AAS78572;ABW03474;ABW03782;BAD93034;BAG35951;CAG33386;EAW87362;EAW87363;NP_001231855;NP_004688;O43172;XP_005252357 Hs.744014 2138411;5014055;7183791 D1S3697;D9S1962 HPRP4;HPRP4P;PRP4;Prp4p;RP70;SNRNP60 OTTHUMP00000021946;OTTHUMP00000021947;PRP4 homolog;PRP4 pre-mRNA processing factor 4 homolog;PRP4/STK/WD splicing factor;U4/U6 small nuclear ribonucleoprotein Prp4;U4/U6 snRNP 60 kDa protein;WD splicing factor Prp4 APPROVED protein-coding ENSG00000136875 HGNC:17349 08479 607795;615922 REVIEWED 1314103 PRPF31 pre-mRNA processing factor 31 This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009] 19 19 19 q13.42 51658851 51675215 + 54618790 54635150 + 54115374 54131719 + 1580863;6480464;6907045;7240710;8547535;8554872;8699517 23701314 11076863;11230166;11256614;1154573;11545739;11867543;11971955;12444105;12477932;12714658;12747765;12923864;14499622;14507862;14702039;15057824;15146197;15162096;15257298;15489334;15489336;15659613;15924690;15960975;16139010;16381901;16427773;16636657;16723661;16917484;17003455;17286855;17295140;17325180;17412961;17643375;17895420;18177735;18317597;18431455;18552984;18640990;19096719;19167051;19293337;19373678;19506198;19578015;19615732;20118938;20301590;20360068;20801516;20939871;21139048;21145461;21209461;21378395;21385873;21697133;21715351;21890473;22174317;22365833;22723017;22939629;23041261;23144630;23184937;23246001;23288994;23343310;23443559;23602568;24116917;24244300;24319336;24550385;24595387;8004108;8808602;8889548 26121 E7EN72;E7ESA8;E7ESX0;E7EU94;E7EVX8;F1T0A4;F1T0A5;Q8WWY3 AB593024;AB593025;ABBA01068174;ABBA01068175;AC012314;AC245052;AF308303;AK098547;AK301709;AL050369;AY040822;BC117389;CB854773;CH471135;CN306666;DQ374434;DQ426885;NG_009759;NM_015629;XM_005258729;XM_005277071;XM_005277249;XM_005278258;XM_006723137;XM_006725641;XM_006725767;XM_006725768;XM_006725868;XM_006725869;XM_006725956;XM_006725957;XM_006726055;XM_006726056;XM_006726153;XM_006726154;XM_006726193;XM_006726194;XM_006726273;XM_006726309 AAG48270;AAI17390;AAK77986;ABD37635;ADR83023;BAC05329;BAG63180;BAJ83978;BAJ83979;CAB43677;CAL37744;EAW72190;EAW72191;NP_056444;Q8WWY3;XP_005258786;XP_005277128;XP_005277306;XP_005278315;XP_006723200;XP_006725704;XP_006725830;XP_006725831;XP_006725931;XP_006725932;XP_006726019;XP_006726020;XP_006726118;XP_006726119;XP_006726216;XP_006726217;XP_006726256;XP_006726257;XP_006726336;XP_006726372 Hs.515598 1335505;1337701;1805376;1806004;1816546;1819578;1819780;1821190;1823328;1823864;1828236;1830058;1830292;1830436;1833194;1836586;1838320;1839528;2041094;2041096;2041098;2041100;2041102;2041104;2041106;2041108;2041110;2041112;2041114;2041116;2041118;2041120;2041122;2041124;2041126;2041128;2041130;2041132;2041134;2041136;2041138;2041140;2041142;2041144;2041146;2041148;2041150;2041152;2041154;2041156;2041158;2041160;2041162;2041164;2041166;2041168;2041170;2041172;2041174;2041176;2041178;2041180;2041182;2041184;2041186;2041188;2041190;2041192;2041194;2041196;2041198;2041200;2041202;2041204;2041206;2041208;2041210;2041212;2041214;2041216;2041218;2041220;2041222;2041224;2041226;2041228;2041230;2041232;2041234;2041236;2041238;2041240;2103578;2103580;2103582;2103584;2103586;2103588;2103590;2103592;2103594;2103596;2103598;2103600;2103602;2103604;2109697;2153109;5015619;5016478;5017170;5022463;5022578;5037552;5117897 D11S3114;D19S180;D19S214;D1S1423;D3S1673;D8S2279;ECD03635;ECD03955;ECD09315;ECD10856;ECD10960;ECD11672;ECD12753;ECD13024;ECD15243;ECD16162;ECD16280;ECD16352;ECD17739;ECD19457;ECD20334;ECD20946;GDB:434012;GDB:631813;L29953;PRPF31_9460;REN91581;REN91582;REN91583;REN91584;REN91585;REN91586;REN91587;REN91588;REN91589;REN91590;REN91591;REN91592;REN91593;REN91594;REN91595;REN91596;REN91597;REN91598;REN91599;REN91600;REN91601;REN91602;REN91603;REN91604;REN91605;REN91606;REN91607;REN91608;REN91609;REN91610;REN91611;REN91612;REN91613;REN91614;REN91615;REN91616;REN91617;REN91618;REN91619;REN91620;REN91621;REN91622;REN91623;REN91624;REN91625;REN91626;REN91627;REN91628;REN91629;REN91630;REN91631;REN91632;REN91633;REN91634;REN91635;REN91636;REN91637;REN91638;REN91639;REN91640;REN91641;REN91642;REN91643;REN91644;REN91645;REN91646;REN91647;REN91648;REN91649;REN91650;REN91651;REN91652;REN91653;REN91654;RH67880;stSG605796;stSG605797;stSG605798;stSG605799;stSG605800;stSG605801;stSG605802;stSG605803;stSG605804;stSG605805;stSG605806;stSG605807;stSG605808;stSG605811 DKFZp566J153;NY-BR-99;PRP31;RP11;SNRNP61;hPrp31 OTTHUMP00000068806;OTTHUMP00000068808;PRP31 pre-mRNA processing factor 31 homolog;U4/U6 small nuclear ribonucleoprotein Prp31;U4/U6 snRNP 61 kDa protein;pre-mRNA-processing factor 31;protein 61K;prp31 pre-mrna processing factor 31 homolog (yeast);serologically defined breast cancer antigen NY-BR-99 APPROVED protein-coding ENSG00000105618 HGNC:15446 05917 600138;606419 REVIEWED 1316097 PRPF6 pre-mRNA processing factor 6 The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 59299064 59350558 + 62612417 62664453 + 63981064 64033100 + 6480464;6907045;8699517;7240710;8554872 10561546;10788320;10848612;11780052;11991638;12039962;12226669;12477932;12620389;12943705;14702039;15146077;15161931;15257298;15342556;15489334;15840814;16230076;16341228;16414017;16723661;17314511;17332742;17353931;17643375;18278469;18854154;19471022;19596686;19615732;19946888;20118938;20237496;20301590;20360068;20508642;20696395;21139048;21150319;21252943;21549338;21890473;21906983;21963094;22174317;22365833;22586326;22678362;22751105;22939629;23000965;23022380;23535732;23602568;23752268;23862649;24244333;24332808;24457600;24583282;24778252;24788092;24816145;25027693;8125298 24148 O94906 AB019219;ABBA01021435;ABBA01021436;ABBA01021437;ABBA01021438;AF026031;AF221842;AK001554;AK225993;AK314310;AL118506;AL137320;AL355803;AL356790;AMYH02037479;BC001666;BI562505;BP366197;CH471077;CQ834642;NG_029719;NM_012469;XM_006723769 AAD01798;AAF66128;AAH01666;BAA37140;BAG36962;BAG50938;CAB70695;CAH05536;EAW75174;EAW75175;EAW75176;EAW75177;EAW75178;EAW75179;NP_036601;O94906;XP_006723832 Hs.31334 5113673 RH79731 ANT-1;ANT1;C20orf14;Prp6;RP60;SNRNP102;TOM;U5-102K;hPrp6 OTTHUMP00000031625;PRP6 homolog;PRP6 pre-mRNA processing factor 6 homolog;U5 snRNP-associated 102 kDa protein;U5-102 kDa protein;androgen receptor N-terminal domain transactivating protein-1;androgen receptor N-terminal domain-transactivating protein 1;chromosome 20 open reading frame 14;p102 U5 small nuclear ribonucleoprotein particle-binding protein;pre-mRNA-processing factor 6;putative mitochondrial outer membrane protein import receptor APPROVED protein-coding ENSG00000101161 HGNC:15860 10729 613979;613983 REVIEWED 1317177 PRPF4B pre-mRNA processing factor 4B Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008] 6 6 6 p25.2 5250468 5293786 + 4021563 4065217 + 4021329 4064983 + 1580863;6480464 10799319;11418604;11991638;12077342;12477932;15146197;15302935;15324660;15452250;15592455;15951569;16169070;16565220;16964243;17081983;17353931;17513757;17620599;18029348;18781797;19615732;19710015;19902070;20118938;21139048;21182205;21693764;22174317;22586326;22939629;22944692;23084401;23466643;23602568;23686430;24250222;24515614;24654937;24816145;25027693;8274451;9102632;9628581 8899 H0YDJ3;Q13523 AB011108;ABBA01021997;ABBA01021998;AF283465;AK291244;AK303047;AL033383;AL138831;AMYH02013008;AMYH02013009;AMYH02013010;AY029347;BC009844;BC034969;CH471087;CN314758;CN314761;NM_003913;U48736;XM_006715238;XR_241936;XR_241940;XR_241944;XR_241945;XR_241947;XR_241948;XR_241949;XR_427838;XR_427839;XR_427840;XR_427841;XR_427842;XR_427843;XR_427844;XR_427845;XR_427846;XR_427847;XR_427848;XR_427849;XR_427850;XR_427851;Z25435 AAB03268;AAH09844;AAH34969;AAK38155;AAM19101;BAA25462;BAF83933;BAG64167;CAA80922;EAW55146;EAW55147;EAW55148;EAW55149;EAW55150;EAW55151;NP_003904;Q13523;XP_006715301 Hs.159014 1750759;2165161;2166840;2190775 D6S1932;PRP4;SHGC-102104;STS-N39448 KIAA0536;PR4H;PRP4;PRP4H;PRP4K;dJ1013A10.1 OTTHUMP00000015975;OTTHUMP00000195201;OTTHUMP00000233931;PRP4 kinase;PRP4 pre-mRNA processing factor 4 homolog B;PRP4 pre-mRNA-processing factor 4 homolog;dJ1013A10.1 (PRP4 protein kinase homolog);protein-serine/threonine kinase;serine/threonine-protein kinase PRP4 homolog APPROVED protein-coding ENSG00000112739 HGNC:17346 09087 602338 REVIEWED 1322844 PRPF40A PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cell migration; cytoskeleton organization; regulation of cell shape; PARTICIPATES IN spliceosome pathway; FOUND IN cytoplasm; membrane; nuclear matrix; INTERACTS WITH all-trans-retinoic acid; elemental selenium; kojic acid 2 2 2 q23.3 147122555 147188431 - 153508107 153574628 - 152651593 152718114 - 6480464;6907045 10508479;10744724;11042152;11604498;11741599;12381297;12460579;12477932;12964049;14603323;14618241;14702039;15231748;15302935;15324660;15383276;15456888;15489334;15815621;16055720;16159877;16169070;16391387;16713569;17065151;17081983;17332742;17353931;18029348;18781797;19471022;19946888;20829478;21139048;21145461;21566141;21890473;21900206;21906983;21987572;22113938;22365833;22586326;22939629;22990118;23000965;23125841;23602568;24332808;24457600;24550385;24591637;24654937;24816145;25027693;8605874;9171351;9700202;9724750 55660 F5H578;H0YG38;H7BXZ7;H7C2N3;O75400;Q05C41 ABBA01004797;AC012443;AC079344;AF049523;AF049524;AF049528;AF151059;AF155096;AK000592;AK021621;AK024810;AK298547;AK315187;AMYH02004997;AMYH02004998;BC000273;BC011788;BC027178;BC029414;BC073138;BU753487;CH471058;EG328171;NM_017892;U70667;XM_005246676;XM_005246677;XM_005246678;XM_005246679 AAB93495;AAC27501;AAC27502;AAC27506;AAD42862;AAF36145;AAH11788;AAH27178;AAH29414;AAX88960;BAA91277;BAB15016;BAG37627;BAG60744;EAX11482;NP_060362;O75400;XP_005246733;XP_005246734;XP_005246735;XP_005246736 Hs.643580 1673445;1686834;1689973;1696330;1696342;1772421;1848773;2149305;2170066;2176885;5106415;5491902 GCT16H02;Prpf40a;RH118416;RH65561;RH68219;RH77916;RH79084;RH92158;RH93911;SHGC-36777;SHGC-77756;WI-16116 FBP-11;FBP11;FLAF1;FLJ20585;FNBP3;HIP-10;HIP10;HYPA;NY-REN-6;Prp40 Fas-ligand associated factor 1;Huntingtin-interacting protein A;NY-REN-6 antigen;OTTHUMP00000204906;fas ligand-associated factor 1;formin binding protein 3;formin-binding protein 11;formin-binding protein 3;huntingtin yeast partner A;huntingtin-interacting protein 10;pre-mRNA-processing factor 40 homolog A;renal carcinoma antigen NY-REN-6 protein-coding ENSG00000196504 HGNC:16463 612941 VALIDATED 733911 PRPH peripherin This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008] 12 12 12 q12-q13 48481731 48485303 + 49688796 49692481 + 49295013 49298698 + 1580863;6480464;6907045;7240710 10681511;10728817;11835375;12223549;12358815;12403814;12477932;1378416;14675609;14702039;15322088;15489334;16189514;16787413;17569669;17851265;18287500;18408015;18528283;18709437;18781797;19156129;1986862;19946888;20301623;20363051;20533992;21088854;21139048;21145461;21241994;21743467;21890473;21900206;21906983;21963094;21987572;22053931;22178446;22360420;22505724;22939629;23179371;23718855;24816145;7622044;7806235;7976309;8381395;9085149;9414188;9453548 5630 B3KWQ6;F8W835;H7C5W5;P41219 AA460760;ABBA01031517;ABBA01031518;AC125611;AK125587;AMYH02026445;BC032703;BF448012;CH471111;CQ772262;L14565;NG_008354;NM_006262;XM_005269025;XM_006719503 AAA60190;AAH32703;ABM84284;ABM87676;BAG54218;CAF33862;EAW58060;EAW58061;NP_006253;P41219;XP_005269082;XP_006719566 Hs.37044 1664637;1744025;2217852 GDB:384860;PRPH_2980;STS-L14565 NEF4;PRPH1 OTTHUMP00000235301;OTTHUMP00000235303;OTTHUMP00000235304;neurofilament 4 (57kD);peripherin 1 APPROVED protein-coding HGNC:9461 01365 105400;136880;169150;170710;608133;608161;613105 REVIEWED 1604375 PRPF40B PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014] 12 12 12 q13.12 48813077 48834123 + 50017197 50038452 + 49623414 49645129 + 6480464;6907045;8554872 10958656;12477932;14618241;15146197;22939629;8889548;9700202 25766 F8VU11;H0YII7;Q6NWY9 ABBA01031530;AC020612;AF049525;AK027117;AK123353;AL137459;AL834216;AMYH02026447;BC031917;BC050398;BC067364;BM678253;CH471111;CN288346;NG_032901;NM_001031698;NM_012272;NR_052006;XM_006719324;XM_006719325;XM_006719326;XM_006719327;XM_006719328;XM_006719329;XM_006719330 AAC27503;AAH50398;AAH67364;BAB15662;CAB70747;CAD38898;EAW58084;EAW58085;NP_001026868;NP_036404;Q6NWY9;XP_006719387;XP_006719388;XP_006719389;XP_006719390;XP_006719391;XP_006719392;XP_006719393 Hs.706827 1649624;1653913;1663511;1683543;2107103;2107795;2109417;2117876;2148137;2164801;2191053 FMNL3__6741;HYPC_9405;MARC_13823-13824:1006879352:1;MARC_34442-34443:1063639913:2;RH48030;RH68421;RH77880;RH91412;STS-N25289;STS-N63095;WI-17686 HYPC Huntingtin interacting protein C;OTTHUMP00000241560;OTTHUMP00000241566;huntingtin yeast partner C;huntingtin-interacting protein C;pre-mRNA-processing factor 40 homolog B APPROVED protein-coding ENSG00000110844 HGNC:25031 11044 REVIEWED 735709 PRPH2 peripherin 2 (retinal degeneration, slow) The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 44216617 44242609 - 42664333 42690692 - 42696595 42722853 - 1580863;6480464;6907045;7240710;8553238;8554858;8554859;8553209;8553218;8553193;8553205;8553207;8553215;8553219;8553224;8553226;8553234;8553235;8553236;8553237;8553240;8554864;8553216;8553231;8553239;8554860;8554862;8554861;8553188;8553222;8553191;8553212;8553221;8553223;8547535;8554872;8699517 10888879;11853584;11978760;12566026;14557182;15370544;16180699;16340530;16832026;1684223;17031298;18050133;20335603;22842402;23650562;23701314;23847139;2918924;7862413;7993211;8244346;8320859;8485574;8485575;8644804;8912967;9040483;9052636;9338584;9587927;9690896 10426285;10627133;10681511;11485765;11641407;11739647;11934323;12019563;12477932;12608515;12724643;12882809;12902384;1427912;14557183;1539599;15591062;16019073;16767206;1679750;16885924;17148040;17249552;17286855;17362467;1749427;17504850;17653047;17671712;17698758;18328765;19038374;19243827;19262438;19506198;19921174;1992463;19958124;20213611;20301590;20458258;20801516;21071739;21269699;22174098;22466463;22863181;22948568;7493155;7519821;8019570;8020945;8449524;8485576;8956033;9443872;9885962 5961 P23942;Q16228 ABBA01050724;ABBA01050725;AL049843;AMYH02013624;AMYH02013625;BC074720;CH471081;DQ426889;KF458159;M62958;M73531;NG_009176;NM_000322;S73627;U07149;XM_005249261;XR_427834 AAA16958;AAA60260;AAB31191;AAH74720;EAX04098;NP_000313;P23942;XP_005249318 Hs.654489 1672901;1741537;1744259;1793176;1793988;2110699;2182558 D6S1872;GDB:181434;GDB:439265;PMC197259P1;PMC310725P5;RDS__6879;RH17733 AVMD;CACD2;DS;PRPH;RDS;RP7;TSPAN22;rd2 AOFMD;OTTHUMP00000016404;peripherin 2;peripherin 2, homolog of mouse;peripherin, photoreceptor type;peripherin-2;retinal degeneration slow protein;retinal peripherin;tetraspanin-22;tspan-22 APPROVED protein-coding ENSG00000112619 HGNC:9942 01553 136880;169150;179605;608133;608161;613105 REVIEWED 1342492 PRPS1P2 phosphoribosyl pyrophosphate synthetase 1 pseudogene 2 9 9 9 98560867 98561801 + 127912933 127913867 + 125150654 125151588 + 1962753;2536962 100421295 ABBA01043775;AL445930;AMYH02021644;NG_023956 1735862 D9S991E PRPS1L2 APPROVED pseudo HGNC:9464 INFERRED 737326 PRPS2 phosphoribosyl pyrophosphate synthetase 2 This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] X X X p22.2 16923480 16956355 + 12809474 12842346 + 12791355 12824227 + 1580863;1300048;5135488;6480464;6907045 20005278 12477932;1314091;15489334;1602151;16344560;18409517;18677108;19322201;1962753;19738201;21139048;21853274;21890473;21906983;21963094;21987572;22505724;22863883;22939629;23824909;23891004;24654937;24816145;25027693;2536962;2537655;2538352;2560337;7572345;8889548;9366267 5634 A6NMS2;D3YTJ7;H7C540;P11908 ABBA01071034;ABBA01071035;ABBA01071036;ABBA01071037;ABBA01071038;AC005859;AK310332;AK313246;AMYH02038884;AMYH02038885;BC030019;BC040483;BC110875;BC119662;BC119663;BU675363;CH471074;CR988262;D28134;DA478574;NG_016717;NM_001039091;NM_002765;Y00971 AAH30019;AAH40483;AAI10876;AAI19663;AAI19664;BAA05676;BAG36057;CAA68785;EAW98805;EAW98806;NP_001034180;NP_002756;P11908 Hs.654581 1663544;1702634;1724945;1742949;2123740 DXS8283;GDB:192492;GDB:216878;RH119240;RH12477 PRS-II;PRSII OTTHUMP00000022921;OTTHUMP00000214964;OTTHUMP00000214965;PPRibP synthetase;phosphoribosyl pyrophosphate synthase II;ribose-phosphate diphosphokinase 2;ribose-phosphate pyrophosphokinase 2 APPROVED protein-coding ENSG00000101911 HGNC:9465 02414 311860 REVIEWED 733778 PRPSAP1 phosphoribosyl pyrophosphate synthetase-associated protein 1 ENCODES a protein that exhibits enzyme inhibitor activity (inferred); enzyme regulator activity (inferred); kinase binding (inferred); INVOLVED IN negative regulation of kinase activity (inferred); nucleobase-containing compound metabolic process (inferred); nucleotide biosynthetic process (inferred); FOUND IN ribose phosphate diphosphokinase complex (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; hydrogen peroxide 17 17 17 q24-q25 70901207 70943527 - 74306868 74379970 - 76310787 76354149 - 1580863;6480464 12477932;15489334;16169070;16189514;16344560;17207965;17353931;19447967;20462248;21139048;21145461;21890473;21906983;21988832;22678362;22863883;22939629;22990118;23000965;23263486;24250222;24337577;24816145;7572345;8132556;8611620;8660991;9366267 5635 B4DP31;C9J168;C9JKT9;C9JNQ3;C9JUN4;Q14558 ABBA01028746;ABBA01028747;AC090699;AI289298;AK131332;AK298171;AK312637;AMYH02034009;AMYH02034010;AMYH02034011;BC009012;CH471099;D61391;DB031565;NM_002766 AAH09012;ADQ32753;BAA09612;BAG35521;BAG60443;EAW89386;EAW89387;NP_002757;Q14558 Hs.77498 PAP39 39 kDa phosphoribosypyrophosphate synthase-associated protein;OTTHUMP00000208977;OTTHUMP00000208978;PRPP synthase-associated protein 1;phosphoribosyl pyrophosphate synthase-associated protein 1 protein-coding HGNC:9466 03151 601249 VALIDATED 736625 PRPS1 phosphoribosyl pyrophosphate synthetase 1 This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] X X X q22.3 107343160 107365584 + 106871654 106894256 + 107628424 107651026 + 1599725;1300048;5134990;5135488;6480464;6907045;7240710;8554872;8699517 20005278;7593598;8253776 10066814;12477932;12847698;1314091;15240907;15489334;15943588;15955956;16189514;16196087;16236267;1650777;16682768;16939420;17701896;17701900;18409517;19161981;1962753;20021999;20301532;20301607;20301731;20301734;20301738;20380929;20462248;20544509;21139048;2155397;21834172;21869827;21890473;21906983;21963094;21987572;22132986;22246954;22268729;22505724;22792159;22863883;22939629;23184937;23190330;23509005;24337577;24816145;25027693;25036637;4328836;8125298;8702702;8882866;8968763;9366267 5631 B1ALA7;B1ALA9;B7ZB02;P60891 ABBA01035916;ABBA01035917;ABBA01035918;ABBA01035919;ABBA01035920;AK223169;AK297968;AK307748;AK312706;AK316467;AL137787;AL772400;AMYH02040216;BC001605;CH471120;D00860;D28133;DC411129;NG_008407;NM_001204402;NM_002764;X15331 AAH01605;ABM86759;ABW03813;BAA00733;BAA05675;BAD96889;BAG35584;BAG60278;BAH14838;CAA33386;EAX02709;EAX02710;EAX02711;NP_001191331;NP_002755;P60891 Hs.56 1694074;2108399;2177083 AL035129;PRPS1_8569;RH36177 ARTS;CMTX5;DFN2;DFNX1;KIAA0967;PPRibP;PRS-I;PRSI OTTHUMP00000023807;OTTHUMP00000023809;dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1);deafness 2, perceptive, congenital;deafness, X-linked 2, perceptive, congenital;phosphoribosyl pyrophosphate synthase I;ribose-phosphate diphosphokinase 1;ribose-phosphate pyrophosphokinase 1 APPROVED protein-coding ENSG00000147224 HGNC:9462 02413 300661;301835;304500;311070;311850 REVIEWED 5685722 PRPS1P1 phosphoribosyl pyrophosphate synthetase 1 pseudogene 1 2 2 165070049 165070924 + 164213539 164214414 + 100861436 ABBA01004907;AC110078;AMYH02005115;NG_032007 pseudo HGNC:39427 INFERRED 1314887 PRPS1L1 phosphoribosyl pyrophosphate synthetase 1-like 1 This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008] 7 7 7 p21.1 18046381 18047465 - 18066397 18067486 - 18026774 18027863 - 5135488;6480464;6907045 20005278 11181995;12477932;1314091;20811636;21145461;2168892;21734401;21890473;21906983;21963094;23969696;24816145 221823 P21108 ABBA01056647;AC080080;AMYH02015313;BC005309;BC062797;CH236948;CH471073;M57423;NM_175886 AAB59463;AAH62797;EAW93700;NP_787082;P21108 Hs.169284 2106575 PRPS1L1__5597 PRPS1;PRPS3;PRPSL;PRS-III OTTHUMP00000202305;PRPS1-like 1;phosphoribosyl pyrophosphate synthase 1-like 1;phosphoribosyl pyrophosphate synthase III;phosphoribosylpyrophosphate synthetase subunit III;ribose-phosphate diphosphokinase catalytic chain III;ribose-phosphate pyrophosphokinase 3;ribose-phosphate pyrophosphokinase III APPROVED protein-coding ENSG00000229937 HGNC:9463 17914 611566 REVIEWED 1601861 PRR11 proline rich 11 INVOLVED IN regulation of cell cycle; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; membrane; nucleus; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; cadmium atom 17 17 17 q22 53695876 53773684 + 57232860 57284070 + 59155499 59206709 + 6480464;8554872 11799066;12477932;14702039;15489334;16344560;17081983;17207965;17672918;19946888;21139048;21906983;21963094;23000965;23246489;8125298 55771 D2SNZ4;J3QKY4;J3QQS2;J3QR53;J3QRV0;Q96HE9 ABBA01041364;ABBA01041365;ABBA01041366;ABBA01041367;AC099850;AK000296;AK001891;AK225377;AK225380;AL711011;AMYH02033702;AMYH02033703;AW957315;BC008669;CH471109;DA649803;DB106349;FJ161961;NM_018304;XR_243671 AAH08669;ACL14948;ADQ32320;BAA91064;BAA91964;EAW94416;EAW94417;EAW94418;NP_060774;Q96HE9 Hs.631750 1665578;1665580;1691726;1691780;1694570;1734478;1767425;1776221;2176425;5015404;5015881;5016596;5020946;5021396;5022200;5022450;5022578;5022588;5022651;5024039;5024413;5118444;5491689 A006J47;D10S275;D11S2921;D11S3316;D16S325;D17S1438E;D1S1423;D5S1597E;G20885;G42209;G42246;G43265;GDB:313783;GDB:335751;GDB:631802;L17705;L17877;L17971;L18426;MARC_7919-7920:996688168:1;RH35809;RH78414;SHGC-58229 FLJ11029 proline-rich protein 11;transcription repressor of MHCII protein-coding HGNC:25619 07726 615920 VALIDATED 1353000 PRR1 proline rich 1 (prostatic) ASSOCIATED WITH Zlotogora-Ogur syndrome (inferred) 1300407;7240710 2630192 5637 HGNC:9468 225060 8657174 PRR13P1 proline rich 13 pseudogene 1 1 1 1 q31.3 171289498 171289905 - 198166915 198167316 - 198197785 198198186 - 647195 ABBA01027580;AC093561;AMYH02002442;NG_030203 pseudo HGNC:50614 INFERRED 8657176 PRR13P3 proline rich 13 pseudogene 3 11 11 11 q23.3 114364577 114365007 - 117206316 117207399 - 117335600 117336683 - 100129201 ABBA01039727;AMYH02025629;AP000892;NG_029238;NG_033032 pseudo HGNC:50616 INFERRED 1604010 PRR13 proline rich 13 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 5-fluorouracil; cisplatin 12 12 12 q12 53485803 53490798 + 53835433 53840427 + 53441649 53446643 + 6480464 11042152;11230166;12477932;15146197;15489334;16169070;16189514;16847352;17207965;18029348;19435835;21157449;24362794 54458 F8VP70;F8VRX0;F8VU40;F8VWB5;F8VZP4;F8W1R5;Q9NZ81 ABBA01008339;AC068889;AF217517;AK074398;AL122042;AMYH02026520;AX405840;BC001464;BC004512;BC014257;BC016064;BC021019;BC062322;BC066943;BC071979;BK005847;BX640962;CH471054;CN392914;CR533459;NM_001005354;NM_018457 AAF67628;AAH14257;AAH16064;AAH66943;ADQ32956;ADZ15792;CAD34947;CAE45980;CAG38490;DAA05782;EAW96702;EAW96703;EAW96704;EAW96705;NP_001005354;NP_060927;Q9NZ81 Hs.744894 1691330;1747733;5021575 D3S4196;G64247;SHGC-187 DKFZp564J157;FLJ23818;FLJ58476;TXR1 OTTHUMP00000242710;OTTHUMP00000242711;OTTHUMP00000242712;OTTHUMP00000242715;OTTHUMP00000242716;OTTHUMP00000242717;OTTHUMP00000242718;OTTHUMP00000242720;proline-rich protein 13;taxane-resistance protein protein-coding ENSG00000205352 HGNC:24528 13211 610459 VALIDATED 732905 PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2 This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 17 17 17 p11.2-p12 20676623 20748896 + 18759612 18834600 + 18856299 18931287 + 1580863;6480464;8554872 12477932;15489334;16169070;16344560;17081983;20462248;20686608;21139048;21145461;21832049;21890473;21906983;22863883;23000965;24816145;25036637;9545573;9806849 5636 C9JDH0;C9JDU5;C9JJS3;C9K0K7;E7EPA1;E7EW35;I3L0S1;I3L164;I3L1T1;I3L275;I3L2J4;I3L331;I3L3B8;I3L4G9;O60256 AB007851;ABBA01013324;ABBA01013325;ABBA01013326;ABBA01013327;ABBA01013328;AC090286;AC107982;AI379788;AI955172;AK126398;AK303911;AK304544;AK313087;AL535304;AMYH02033125;AMYH02033126;AMYH02033127;AMYH02033128;AMYH02033129;AMYH02033130;BC101670;BC101672;BC106050;BC143475;BX648850;CH471276;CR457082;DA257655;DC424578;NM_001243936;NM_001243940;NM_001243941;NM_001243942;NM_002767;XM_005256724;XM_005256725;XM_005256726;XM_005256727;XM_005256729 AAI01671;AAI01673;AAI06051;AAI43476;BAA25435;BAC86540;BAG35912;BAG64840;BAG65341;CAG33363;EAW50432;EAW50433;EAW50434;EAW50435;EAW50436;EAW50437;EAW50438;NP_001230865;NP_001230869;NP_001230870;NP_001230871;NP_002758;O60256;XP_005256781;XP_005256782;XP_005256783;XP_005256784;XP_005256786 Hs.632236 1644159;1725619;1732147;1732149;2106577 D7S836;D7S845;G62025;PRPSAP2__5598;RH15612 MGC117304;MGC126719;MGC126721;PAP41 41 kDa phosphoribosypyrophosphate synthetase-associated protein;OTTHUMP00000065716;OTTHUMP00000065717;OTTHUMP00000065718;OTTHUMP00000065720;OTTHUMP00000065721;OTTHUMP00000065724;PRPP synthase-associated protein 2;phosphoribosyl pyrophosphate synthase-associated protein 2 APPROVED protein-coding ENSG00000141127 HGNC:9467 04789 603762 REVIEWED 8657189 PRR13P4 proline rich 13 pseudogene 4 18 18 18 q21.1 43851548 43851959 + 46996171 46996588 + 49469801 49470218 + 100288008 ABBA01018653;AC100778;AMYH02034695;NG_030065 pseudo HGNC:50617 INFERRED 8657177 PRR13P5 proline rich 13 pseudogene 5 19 19 19 q13.2 37246942 37248038 - 40448563 40449659 - 39942656 39943752 - 440525 ABBA01040737;AC007842;AC244229;NG_005548 pseudo HGNC:50618 INFERRED 8657175 PRR13P7 proline rich 13 pseudogene 7 8 8 q21.3 92921964 92922419 - 91909736 91910191 - 100289644 ABBA01037421;AC103680;AMYH02018406;NG_032746 pseudo HGNC:50620 INFERRED 1604599 PRR14 proline rich 14 INTERACTS WITH coumestrol; ethyl methanesulfonate; formaldehyde 16 16 16 p11.2 29631084 29636577 - 30662038 30667734 + 30650717 30656413 + 6480464 12477932;16189514;18654987;19156129;19322201;20562864;21832049;21890473;21900206;24250222 78994 H3BND2;H3BQL8;Q9BWN1 ABBA01042047;ABBA01042048;AC093249;AK074783;AK125716;AMYH02031828;BC000119;BC010232;BC011573;BC021934;BC050677;CH471192;CQ783670;CR936781;HI574218;NM_024031;XM_005255566 AAH00119;AAH10232;AAH21934;AAH50677;ABM83770;ABM87089;BAC11207;CAF86803;CBX47598;EAW52221;EAW52222;EAW52223;EAW52224;EAW52225;EAW52226;EAW52227;NP_076936;Q9BWN1;XP_005255623 Hs.293629 1334845;1701432;1707614 D16S685;RH104348;SHGC-84622 DKFZp781A13198;MGC3121 OTTHUMP00000163251;proline-rich protein 14 protein-coding ENSG00000156858 HGNC:28458 14541 PROVISIONAL 1320487 PRR12 proline rich 12 ENCODES a protein that exhibits DNA binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; vincristine 19 19 19 q13.33 46964251 46999029 + 50094912 50129696 + 49591655 49626439 + 6480464;8554872 10574462;10737800;12477932;15489334;17081983;21906983;21988832;22505724;22939629;8889548 57479 Q9ULL5 AB033031;ABBA01032915;ABBA01032916;AC010619;AC011495;AMYH02036324;BC034003;BF805116;BF933932;BM684867;BM723432;NM_020719 AAH34003;BAA86519;NP_065770;Q9ULL5 Hs.590971 1793820;2109699 PMC29263P1;PRRG2_8571 KIAA1205 proline-rich protein 12 protein-coding ENSG00000126464 HGNC:29217 VALIDATED 1601848 PRR15L proline rich 15-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 17 17 17 q21.32 42482154 42487934 - 46029333 46035252 - 47951967 47957885 - 6480464;8554872 12477932;16341674;17207965;22949513 79170 Q59GS3;Q9BU68 AA707319;AA916635;ABBA01041150;AC018521;AK309589;AMYH02033530;AX972692;BC002865;BM829856;BM831136;CH471109;NM_024320;XM_005257663;XM_005257664;XM_005257665;XM_005257666 AAH02865;ADQ32779;CAF17800;EAW94779;EAW94780;NP_077296;Q9BU68;XP_005257720;XP_005257721;XP_005257722;XP_005257723 Hs.368260 2114857;2154642;2179673 RH17497;RH78684;SHGC-34724 ATAD4;MGC11242 ATPase family, AAA domain containing 4;proline-rich protein 15-like protein APPROVED protein-coding ENSG00000167183 HGNC:28149 14412 VALIDATED 1603877 PRR15 proline rich 15 INVOLVED IN multicellular organismal development (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; coumestrol 7 7 7 p14.3 29592943 29596427 + 29603039 29606911 + 29563421 29567295 + 6480464 12477932;12690205;15489334;17207965;19605793;21061267;21832049;23940030 222171 A4D1A1;C9JQ22;Q8IV56 ABBA01056799;AC007255;AMYH02015442;BC018144;BC029131;CH236948;CH471073;FJ857942;NM_175887;XM_005249653;XM_005249654 AAH29131;ACQ82722;ADQ32860;EAL24204;EAW93920;NP_787083;Q8IV56;XP_005249710;XP_005249711 Hs.91109 1686668 RH92381 OTTHUMP00000158701;OTTHUMP00000202286;proline-rich protein 15 protein-coding ENSG00000176532 HGNC:22310 14136 PROVISIONAL 1601804 PRR18 proline rich 18 INTERACTS WITH formaldehyde; hydroquinone O-beta-D-glucopyranoside; kojic acid 6 6 6 q27 167458534 167461239 - 166718788 166722011 - 166305680 166308383 - 6480464 12477932;20834067 285800 E9PL31;Q8N4B5 ABBA01033445;AL121956;AMYH02014965;BC034775;CH471051;NM_175922 AAH34775;EAW47536;NP_787118;Q8N4B5 Hs.731862 MGC35308 OTTHUMP00000234831;hypothetical protein mgc35308;proline rich region 18;proline-rich protein 18 APPROVED protein-coding ENSG00000176381 HGNC:28574 17533 VALIDATED 1602486 PRR16 proline rich 16 INVOLVED IN positive regulation of cell size; positive regulation of translation; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; all-trans-retinoic acid 5 5 5 q23.1 115751492 115974376 + 119799973 120023009 + 120464278 120687314 + 6480464;8554872 12477932;15971941;19953087;20379614;21832049;22321011;22610502;23080069;23897914;24656129 51334 D6RGF0;Q569H4 ABBA01068974;ABBA01068975;AC093301;AC104110;AC113418;AC144990;AF242769;AI572206;AMYH02012073;AMYH02012074;BC038838;BC092474;CH471086;KC877090;NM_001300783;NM_016644;XM_005272010;XM_005272011;XM_005272012 AAF65446;AAH38838;AAH92474;EAW48904;EAW48906;NP_001287712;NP_057728;Q569H4;XP_005272067;XP_005272068;XP_005272069 Hs.157461;Hs.605607 1714737;1718197;1720695;1721515;1749169;1749453;1785326;1785394;5094170 G54587;G59165;G59612;RH120033;RH122868;SHGC-110858;SHGC-111182;SHGC-111918;SHGC-142656 DSC54;LARGEN;MGC104614 OTTHUMP00000159145;mesenchymal stem cell protein DSC54;proline-rich protein 16 protein-coding ENSG00000184838 HGNC:29654 14239 615931 VALIDATED 1604489 PRR19 proline rich 19 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH amiodarone 19 19 19 q13.2 39607080 39615768 + 42806284 42814973 + 42302132 42310821 + 6480464;8554872 12477932;16341674 284338 A6NJB7;M0QXP7 ABBA01040846;AC006486;AI208291;AK124116;AK291528;AMYH02036148;AMYH02036149;AW451766;BC063021;BM762502;CH471126;NM_199285;XM_005258779;XM_005258780;XM_006723154 A6NJB7;AAH63021;BAF84217;BAG54010;EAW57127;NP_954979;XP_005258836;XP_005258837;XP_006723217 Hs.585901 1734692;2144841;5015861;5017266;5022425;5024761;5037552;7185938 D10S16;D19S691E;D19S827;D22S296;D8S2279;L18506;RH36905 MGC70924 proline-rich protein 19 protein-coding ENSG00000188368 HGNC:33728 14703 VALIDATED 1313510 PRPF8 pre-mRNA processing factor 8 Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 1569279 1603532 - 1553923 1588176 - 1650629 1684882 - 1599210;6480464;6907045;7240710;8547535;8554872;8699517 11468273;23701314 10024169;10411133;10809668;10828595;10983979;11006293;11350945;11910553;11971955;11991638;12054535;12226669;12477932;12601059;12714658;12840015;15034300;15146077;15346200;15489334;15786732;15840809;15848144;16055720;16159877;16196087;16344560;16723661;17061239;17317632;17332742;17353931;17632523;17643375;18425143;18457437;18695108;18781797;18843295;18854154;18951082;19096719;19454010;19471022;19596686;19615732;19738201;19875381;19913121;19946888;20232351;20301590;20360068;20595234;20628086;20639865;20696395;20705733;20801516;20810990;21081666;21139048;21145461;21252943;21378395;2139226;21575865;21890473;21906983;21963094;21987572;22039234;22118674;22174317;22178446;22268729;22354994;22365833;22446626;22505724;22569250;22586326;22623428;22939629;23000965;23022380;23084401;23125841;23443559;23463506;23602568;23704370;23727230;23862649;24332808;24337577;24457600;24550385;24591637;24639526;24654937;2479028;24816145;25027693;2527369;2532307;7489518;7573060;7951236;8125298;8571961;8608445;8702566;9303319;9774689 10594 I3L0J9;I3L1T8;I3L3Z8;Q6P2Q9 AB007510;ABBA01054669;AC130343;AF092565;AK058034;AK126169;AK222905;AK296344;AMYH02032748;AMYH02032749;AY486134;AY486135;BC000579;BC034545;BC064370;BX649099;CD698473;CH471108;DB081408;NG_009118;NM_006445 AAC61776;AAH64370;AAS64747;AAS64748;BAA22563;BAD96625;BAG59028;EAW90588;EAW90589;EAW90590;EAW90591;EAW90592;EAW90593;EAW90594;NP_006436;Q6P2Q9 Hs.181368 1339353;1340644;1675881;1758425;2119014;5015959;5022588;5491987 D10S2448;D17S1529;D17S831;D5S1597E;PRPF8;RH92048;SHGC-148294;STS-W58284 HPRP8;PRP8;PRPC8;RP13;SNRNP220;p220 220 kDa U5 snRNP-specific protein;OTTHUMP00000115657;PRP8 homolog;PRP8 pre-mRNA processing factor 8 homolog;U5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8p;apoptosis-regulated protein 1;apoptosis-regulated protein 2;pre-mRNA-processing-splicing factor 8;precursor mRNA processing protein;prp8 pre-mrna processing factor 8 homolog (yeast);splicing factor Prp8 APPROVED protein-coding ENSG00000174231 HGNC:17340 06295 600059;607300 REVIEWED 1603591 PRR20A proline rich 20A This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] 13 13 13 q21.1 81 2154 - 57715052 57718073 + 57140918 57143939 + 6480464 12477932;14702039;15057823;20662561;24722188 122183 P86478;P86479;P86480;P86481;P86496 ABBA01144432;AK097615;AL353652;AMYH02028095;AMYH02028096;AMYH02028097;AMYH02028098;AMYH02028099;BC120931;BC120932;NM_198441 AAI20932;AAI20933;NP_940843;P86496 Hs.525056;Hs.723090 FLJ40296;MGC149404;MGC149405;PRR20 OTTHUMP00000218560;proline rich 20;proline-rich protein 20;proline-rich protein 20A APPROVED protein-coding ENSG00000204919 HGNC:24754 13445 VALIDATED 1604500 PRR14L proline rich 14-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; atrazine; formaldehyde 22 22 22 q12.2 15877774 15946562 - 32077333 32146120 - 31681347 31750135 - 6480464;8554872 12477932;14702039;15461802;16344560;17207965;19156129;19875381;20379614;21139048;21890473;21963094;22505724;24778252 253143 C9J9V0;H3BLU3;H7BZH1;H7C1B0;Q5THK1 ABBA01055344;ABBA01055345;ABBA01055346;ABBA01055347;AC005004;AK055930;AK090566;AK123082;AK130944;AL031255;AMYH02038248;AMYH02038249;AMYH02038250;AMYH02038251;AMYH02038252;BC040859;BX647272;CD697995;CH471095;CT841517;DA861907;NM_173566;XM_005261480;XM_006724219;XM_006724220;XM_006724221 AAH40859;ADQ33107;BAC85470;BAC85533;CAJ86447;EAW59992;EAW59993;EAW59994;EAW59995;NP_775837;Q5THK1;XP_005261537;XP_006724282;XP_006724283;XP_006724284 Hs.438906 1700010;1798366;1798488;1799056;1799130;1799274;1805232;1805998;1807682;1809550;1811692;1812856;1813296;1814182;1817656;1818422;1818860;1819378;1820468;1821710;1823646;1826062;1826670;1827380;1828760;1829444;1830180;1830340;1831322;1831502;1832658;1833356;1834724;1835730;1837076;1838038;1842036;1842264;1842782;1843022;1843716;1844084;1844906;1857451;2007878;2007880;2007910;2007912;2007914;2007916;2007918;2007920;2007922;2007924;2007926;2007928;2007930;2007932;2007934;2007936;2007938;2007940;2007942;2007944;2007946;2007948;2007950;2007952;2007954;2007956;2007958;2007960;2007962;2007964;2007966;2007968;2007970;2007972;2007974;2007976;2007978;2007980;2007982;2007984;2007986;2007988;2007990;2007992;2007994;2007996;2007998;2008000;2008002;2008004;2008006;2008008;2008010;2008012;2008014;2008016;2008018;2008020;2008022;2008024;2008026;2008028;2008030;2008032;2008034;2008036;2008038;2008040;2008042;2008044;2008046;2008048;2008050;2008052;2008054;2008056;2008058;2008060;2008062;2008064;2008066;2008068;2008070;2008072;2008074;2008076;2008078;2008080;2008082;2008084;2008086;2008088;2008090;2008092;2008094;2008096;2008098;2008100;2008102;2008104;2008106;2008108;2008110;2008112;2008114;2008116;2008118;2008120;2008122;2008124;2008126;2008128;2008130;2008132;2008134;2008136;2008138;2008140;2008142;2008144;2008146;2008148;2008150;2008152;2008154;2008156;2008158;2008160;2008162;2008164;2008166;2008168;2008170;2008172;2008174;2008176;2008178;2008180;2008182;2008184;2008186;2008188;2008190;2008192;2008194;2008196;2008198;2008200;2008202;2008204;2008206;2008208;2008210;2008212;2008214;2008216;2008218;2008220;2008222;2008224;2008226;2008228;2008230;2008232;2008234;2008236;2008238;2008240;2008242;2008244;2008246;2008248;2008250;2008252;2008254;2008256;2008258;2008260;2008262;2008264;2008266;2008268;2008270;2008272;2008274;2008276;2008278;2008280;2008282;2008284;2008286;2008288;2008290;2008292;2008294;2008296;2008298;2008300;2008302;2008304;2008306;2008308;2008310;2008312;2008314;2008316;2008318;2008320;2008322;2008324;2008326;2008328;2008330;2008332;2008334;2008336;2008338;2008340;2008342;2008344;2008346;2008348;2008350;2008352;2008354;2008356;2008358;2008360;2008362;2008364;2008366;2008368;2008370;2008372;2008374;2008376;2008378;2008380;2008382;2008384;2008386;2008388;2008390;2008392;2008394;2008396;2008398;2008400;2008402;2008404;2008406;2008408;2008410;2008412;2008414;2008416;2008418;2008420;2008422;2008424;2008426;2008428;2008430;2097708;2097710;2097712;2097714;2097716;2097718;2097720;2097722;2097724;2097726;2097728;2097730;2097732;2097734;2097736;2097738;2097740;2097742;2097744;2097746;2097748;2097750;2097752;2097754;2097756;2097758;2097760;2097762;2097764;2097766;2097768;2097770;2097772;2097774;2097776;2097778;2097780;2097782;2097784;2097786;2097788;2097790;2097792;2148544;2154026;7186605 D22S15;ECD00018;ECD00081;ECD00373;ECD00411;ECD00485;ECD03560;ECD03952;ECD04813;ECD05767;ECD06850;ECD07441;ECD07668;ECD08120;ECD09880;ECD10269;ECD10494;ECD10756;ECD11309;ECD11941;ECD12915;ECD14140;ECD14449;ECD14805;ECD15507;ECD15853;ECD16223;ECD16304;ECD16797;ECD16888;ECD17470;ECD17821;ECD18510;ECD19022;ECD19702;ECD20190;ECD22221;ECD22335;ECD22598;ECD22719;ECD23069;ECD23255;ECD23669;REN74856;REN74857;REN74872;REN74873;REN74874;REN74875;REN74876;REN74877;REN74878;REN74879;REN74880;REN74881;REN74882;REN74883;REN74884;REN74885;REN74886;REN74887;REN74888;REN74889;REN74890;REN74891;REN74892;REN74893;REN74894;REN74895;REN74896;REN74897;REN74898;REN74899;REN74900;REN74901;REN74902;REN74903;REN74904;REN74905;REN74906;REN74907;REN74908;REN74909;REN74910;REN74911;REN74912;REN74913;REN74914;REN74915;REN74916;REN74917;REN74918;REN74919;REN74920;REN74921;REN74922;REN74923;REN74924;REN74925;REN74926;REN74927;REN74928;REN74929;REN74930;REN74931;REN74932;REN74933;REN74934;REN74935;REN74936;REN74937;REN74938;REN74939;REN74940;REN74941;REN74942;REN74943;REN74944;REN74945;REN74946;REN74947;REN74948;REN74949;REN74950;REN74951;REN74952;REN74953;REN74954;REN74955;REN74956;REN74957;REN74958;REN74959;REN74960;REN74961;REN74962;REN74963;REN74964;REN74965;REN74966;REN74967;REN74968;REN74969;REN74970;REN74971;REN74972;REN74973;REN74974;REN74975;REN74976;REN74977;REN74978;REN74979;REN74980;REN74981;REN74982;REN74983;REN74984;REN74985;REN74986;REN74987;REN74988;REN74989;REN74990;REN74991;REN74992;REN74993;REN74994;REN74995;REN74996;REN74997;REN74998;REN74999;REN75000;REN75001;REN75002;REN75003;REN75004;REN75005;REN75006;REN75007;REN75008;REN75009;REN75010;REN75011;REN75012;REN75013;REN75014;REN75015;REN75016;REN75017;REN75018;REN75019;REN75020;REN75021;REN75022;REN75023;REN75024;REN75025;REN75026;REN75027;REN75028;REN75029;REN75030;REN75031;REN75032;REN75033;REN75034;REN75035;REN75036;REN75037;REN75038;REN75039;REN75040;REN75041;REN75042;REN75043;REN75044;REN75045;REN75046;REN75047;REN75048;REN75049;REN75050;REN75051;REN75052;REN75053;REN75054;REN75055;REN75056;REN75057;REN75058;REN75059;REN75060;REN75061;REN75062;REN75063;REN75064;REN75065;REN75066;REN75067;REN75068;REN75069;REN75070;REN75071;REN75072;REN75073;REN75074;REN75075;REN75076;REN75077;REN75078;REN75079;REN75080;REN75081;REN75082;REN75083;REN75084;REN75085;REN75086;REN75087;REN75088;REN75089;REN75090;REN75091;REN75092;REN75093;REN75094;REN75095;REN75096;REN75097;REN75098;REN75099;REN75100;REN75101;REN75102;REN75103;REN75104;REN75105;REN75106;REN75107;REN75108;REN75109;REN75110;REN75111;REN75112;REN75113;REN75114;REN75115;REN75116;REN75117;REN75118;REN75119;REN75120;REN75121;REN75122;REN75123;REN75124;REN75125;REN75126;REN75127;REN75128;REN75129;REN75130;REN75131;REN75132;RH103617;SGC32795;SHGC-57552;stSG602213;stSG602214;stSG602215;stSG602216;stSG602217;stSG602218;stSG602219;stSG602220;stSG602221;stSG602222;stSG602224;stSG602225;stSG602226;stSG602227;stSG602228;stSG602229;stSG602230;stSG602231;stSG602232;stSG602233;stSG602234;stSG602235;stSG602236;stSG602237;stSG602238;stSG602239;stSG602240;stSG602241;stSG602242;stSG602243;stSG602244;stSG602245;stSG602246;stSG602248;stSG602249;stSG602250;stSG602251;stSG602252;stSG602253;stSG602255;stSG602256;stSG602257;stSG602258 C22orf30;DKFZp781P2328;FLJ23059;FLJ31368;FLJ33247;MGC50372;RP4-694E4.2 OTTHUMP00000028545;hypothetical protein LOC253143;proline rich 14-like protein APPROVED protein-coding ENSG00000183530 HGNC:28738 14665 VALIDATED 3322138 PRR20C proline rich 20C This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] 13 13 q21.1 57728195 57731216 + 57154061 57157082 + 15057823 729240 P86478;P86479;P86480;P86481;P86496 AK097615;AL353652;BC120931;BC120932;NM_001130405 AAI20932;AAI20933;NP_001123877;P86479 Hs.525056;Hs.723090 FLJ40296 protein family member;proline-rich protein 20C APPROVED protein-coding ENSG00000229665 HGNC:37221 VALIDATED 3322145 PRR20B proline rich 20B This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] 13 13 q21.1 57721622 57724643 + 57147488 57150509 + 15057823 729233 P86478;P86479;P86480;P86481;P86496 ABBA01037020;AK097615;AL353652;BC120931;BC120932;NM_001130404 AAI20932;AAI20933;NP_001123876;P86481 Hs.723090 FLJ40296 protein family member;proline-rich protein 20B APPROVED protein-coding ENSG00000204918 HGNC:37220 VALIDATED 3322124 PRR20E proline rich 20E This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] 13 13 q21.1 57741331 57744352 + 57167197 57170218 + 15057823 729250 P86478;P86479;P86480;P86481;P86496 AK097615;AL353652;BC120931;BC120932;NM_001130407 AAI20932;AAI20933;NP_001123879;P86478 Hs.525056;Hs.723090 FLJ40296 protein family member;proline-rich protein 20E APPROVED protein-coding ENSG00000234278 HGNC:37223 VALIDATED 3322131 PRR20D proline rich 20D This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] 13 13 q21.1 57734766 57737787 + 57160632 57163653 + 15057823 729246 P86478;P86479;P86480;P86481;P86496 AK097615;AL353652;BC120931;BC120932;NM_001130406 AAI20932;AAI20933;NP_001123878;P86480 Hs.525056;Hs.723090 FLJ40296 protein family member;proline-rich protein 20D APPROVED protein-coding ENSG00000227151 HGNC:37222 VALIDATED 2306723 PRR21 proline rich 21 ASSOCIATED WITH Melanoma (inferred) 2 2 2 q37.3 234654756 234655421 - 240981230 240982399 - 240041813 240042982 - 6480464;8554872 643905 Q8WXC7 ABBA01048858;AC013469;AF453950;NM_001080835 AAL41025;NP_001074304;Q8WXC7 Hs.693479 2219382 OR6B3__5930 OTTHUMP00000214274;putative proline-rich protein 21 protein-coding ENSG00000221961 HGNC:33866 PROVISIONAL 1605791 PRR23B proline rich 23B 3 3 3 q23 137164128 137166023 - 138737873 138739768 - 139019031 139020926 - 12477932;23314748 389151 Q6ZRT6 ABBA01059068;AC130416;AK127998;AMYH02007784;BC137145;BC137146;NM_001013650 AAI37146;AAI37147;BAC87223;NP_001013672;Q6ZRT6 Hs.531376 OTTHUMP00000218627;proline-rich protein 23B protein-coding ENSG00000184814 HGNC:33764 18392 VALIDATED 2312708 PRR23A proline rich 23A 3 3 3 q23 137149254 137151560 - 138722804 138725110 - 139003962 139006268 - 16641997 729627 A6NEV1 ABBA01059071;AC130416;AMYH02007784;NM_001134659 A6NEV1;NP_001128131 Hs.121314 OTTHUMP00000218629;UPF0572 protein ENSP00000372650;proline-rich protein 23A;proline-rich protein 23C protein-coding HGNC:37172 VALIDATED 1602803 PRR23C proline rich 23C 3 3 3 q23 137187214 137190001 - 138760944 138763734 - 139042102 139044892 - 16641997 389152 Q6ZRP0 ABBA01059067;AC069525;AK128089;AMYH02007784;NM_001134657 BAC87269;NP_001128129;Q6ZRP0 Hs.531377 5015619;5024039;5037552 D11S3114;D16S325;D8S2279 FLJ46210 OTTHUMP00000218628;proline-rich protein 23A;proline-rich protein 23C protein-coding ENSG00000233701 HGNC:37173 13526 VALIDATED 1602265 PRR25 proline rich 25 16 16 16 p13.3 1055329 1063748 + 855443 863861 + 805443 813861 + 11157797;24250222 388199 Q96S07 ABBA01030342;ABBA01030343;AE006465;AL023882;AL031033;AMYH02031210;NM_001013638 AAI56146;AAI56985;AAK61258;NP_001013660;Q96S07 Hs.528461 gs64 proline-rich protein 25 APPROVED protein-coding ENSG00000167945 HGNC:37230 18379 PROVISIONAL 1347405 PRR26 proline rich 26 10 10 10 p15.3 651761 666346 + 695888 711109 + 649948 665169 + 12477932;14702039;15164054;16344560 414235 Q5VXK3;Q8N8Z3 AA877122;ABBA01035265;AK096000;AK096013;AK296168;AL358216;AMYH02021977;BC042561;CH471072;DA621677;NR_027151;NR_027152 BAC04668;BAC04673;BAG58906;EAW86533;EAW86534;Q8N8Z3 Hs.587103 1654438 G31010 C10orf108;FLJ38681 APPROVED ncrna ENSG00000180525 HGNC:30724 18528 VALIDATED 7411445 PRR23D1 proline rich 23 domain containing 1 8 8 p23.1 7394937 7399839 + 7537415 7542450 + 100131608 E9PI22;P0DMB1 ABBA01122026;AC134684;AC246795;NM_001282479;XM_005266047;XM_006725061 E9PI22;NP_001269408;XP_005266104;XP_006725124 proline-rich protein 23C-like;proline-rich protein 23D1 protein-coding ENSG00000255251 HGNC:49420 VALIDATED 1603374 PRR29 proline rich 29 17 17 17 q23.3 56463786 56469714 + 62075711 62081645 + 63998351 64004285 + 12477932;14702039;16344560;24250222 92340 B4DG13;J3KRF4;J3KRR4;J3QR92;P0C7W0 ABBA01035313;AC005803;AK021786;AK294360;AK302960;AK304254;AL161972;AMYH02033784;BC030709;BC045676;CH471109;DB037384;DC358808;NM_001164257;NM_001191029;NM_001191030;NM_001191031;XM_005257805;XM_006722172 BAG51052;BAG57624;BAG64111;BAG65120;EAW94221;EAW94223;EAW94224;NP_001157729;NP_001177958;NP_001177959;NP_001177960;P0C7W0;XP_005257862;XP_006722235 Hs.708161 1664046;1768523;2119599;2149998 A004O13;D17S1976;D17S2034;WI-15726 C17orf72;DKFZp761M2312;FLJ11724 hypothetical protein LOC92340;proline-rich protein 29;uncharacterized protein C17orf72 APPROVED protein-coding ENSG00000224383 HGNC:25673 VALIDATED 1602815 PRR30 proline rich 30 2 2 2 p23.3 27206021 27208638 - 27359715 27362332 - 27136847 27139464 - 12477932;16344560;17207965 339779 C9JVA3;Q53SZ7 AA812952;ABBA01045195;AC013403;AMYH02003472;BC045671;BX118458;CH471053;DB022743;DB052016;DB336367;HC007168;HC044575;NM_178553 AAH45671;AAX93171;ADQ32954;CBH19389;CBH30617;EAX00625;NP_848648;Q53SZ7 Hs.136555 2151281 D2S1748 C2orf53;MGC44505 OTTHUMP00000158509;hypothetical protein LOC339779;proline-rich protein 30;uncharacterized protein C2orf53 APPROVED protein-coding ENSG00000186143 HGNC:28677 14633 VALIDATED 1343981 PRR3 proline rich 3 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH 2-methylcholine; arsenous acid; atrazine 6 6 6 p21.33 32122604 32130591 + 30524486 30532473 + 30556709 30564696 + 1580863;6480464 12477932;14574404;15146197;16344560;19322201;19851445;19912639;22939629;8889548 80742 A6NDA2;B3KQA4;P79522;Q96QB9 AB088095;AB103601;AB202092;ABBA01038049;AK074531;AK131382;AK298621;AK316586;AL662800;AL662825;AMYH02013435;BA000025;BC126455;BC126457;BG483577;BU729453;BX000357;BX248518;BX927220;CH471081;CN258740;CR388372;CR847863;CR936927;DA636006;DR762096;NM_001077497;NM_025263;U63336 AAB40147;AAI26456;AAI26458;BAB63326;BAC54926;BAE78610;BAF31261;BAG38174;BAG51966;BAG60800;EAX03297;EAX03298;NP_001070965;NP_079539;P79522 Hs.118354;Hs.651434 1648350;1682714;1775266;2220176;5020948;5022200;5022450;5022578;5037552 D10S275;D1S1423;D6S2830;D8S2279;G35510;L18426;RH78882;RH79921;SHGC-32967 CAT56;MGC161733;MGC161735 MHC class I region proline-rich protein CAT56;OTTHUMP00000029041;OTTHUMP00000029042;proline-rich polypeptide 3;proline-rich protein 3 protein-coding HGNC:21149 17915 VALIDATED 1641964 PRR31 proline rich 31 9 9 q34.3 139863796 139867332 + 136969344 136972887 + 15164053;23328707 101928638 Q5SQ13 ABBA01022734;AL807752;AMYH02021914;BI825966;BI832003;XM_005266138;XM_005276040;XM_005276365;XR_426461;XR_428622 Q5SQ13;XP_005266195;XP_005276097;XP_005276422 Hs.448074 C9orf141 putative uncharacterized protein C9orf141-like APPROVED protein-coding ENSG00000198454 HGNC:18147 MODEL 7406305 PRR23D2 proline rich 23 domain containing 2 8 8 p23.1 7636246 7641164 - 7778591 7783642 - 15146197 100133251 E9PI22;P0DMB1 AC084121;CN273434;NM_001282478;XM_005272402 NP_001269407;P0DMB1;XP_005272459 Hs.520875 proline-rich protein 23C-like;proline-rich protein 23D2 protein-coding ENSG00000255378 HGNC:49396 VALIDATED 1604909 PRR27 proline rich 27 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (+)-catechin 4 4 4 q13.3 68377867 68390293 + 71017793 71032326 + 70152076 70166609 + 8554872 11076863;11230166;15489336;16381901;19199708 401137 D6RGD6;H0Y8Q8;Q6MZM9 ABBA01022925;AC104811;AMYH02009413;BX484937;BX485867;BX640892;BX640924;BX640997;BX647183;BX647185;BX648724;BX648872;BX648895;BX648896;NM_214711;XM_005265686;XM_005265688 AAI46697;CAE45962;CAE46000;CAH56124;CAH56126;CAL38348;NP_999876;Q6MZM9;XP_005265743;XP_005265745 Hs.518795 C4orf40 OTTHUMP00000159768;OTTHUMP00000218951;hypothetical protein LOC401137;proline-rich protein 27;uncharacterized protein C4orf40 APPROVED protein-coding ENSG00000187533 HGNC:33193 14222 VALIDATED 2299192 PRR32 proline rich 32 X X X q25 126335893 126337916 + 125953747 125955769 + 126819764 126821786 + 11329013;15772651;21375368 100130613 B1ATL7 ABBA01047506;AL662896;AMYH02040445;BG200532;CA433109;NG_021226;NM_001122716;R10182 B1ATL7;NP_001116188 Hs.130370 CXorf64 OTTHUMP00000023980;hypothetical protein LOC100130613;proline-rich protein 32;uncharacterized protein CXorf64 APPROVED protein-coding ENSG00000183631 HGNC:34498 VALIDATED 1602428 PRR22 proline rich 22 INTERACTS WITH diazinon 19 19 19 p13.3 5720964 5722769 - 5782971 5784776 - 5782960 5784765 - 12477932;15146197 163154 K7EJN8;Q8IZ63 ABBA01055991;AC011499;AMYH02035337;BC008985;BC023278;CH471139;CN370733;NM_001134316 AAH08985;AAH23278;ACT64413;EAW69147;NP_001127788;Q8IZ63 Hs.631838 1675624 RH98517 MGC24975 OTTHUMP00000221882;proline-rich protein 22 protein-coding ENSG00000212123 HGNC:28354 14501 VALIDATED 1602476 PRR34 proline rich 34 INTERACTS WITH fonofos; parathion; terbufos 22 22 22 q13.31 30353970 30357655 - 46446339 46450024 - 46050459 46054144 - 6480464 14702039;16344560 55267 Q9NV39 ABBA01010435;AK001807;AK096201;AL121672;AMYH02038528;AU134173;CH471138;NM_018280 AAI52897;AAI56804;BAA91920;EAW73396;EAW73397;NP_060750;Q9NV39 Hs.567529 5037552 D8S2279 C22orf26;FLJ10945 OTTHUMP00000197301;proline-rich protein 34;putative uncharacterized protein C22orf26 APPROVED protein-coding HGNC:25606 07717 VALIDATED 8661980 PRR34-AS1 PRR34 antisense RNA 1 22 22 22 q13.31 30357357 30362000 + 46449726 46454402 + 46053846 46058522 + 8889548 150381 ABBA01010435;AL121672;AMYH02038528;AMYH02038529;BM666595;CR986432;HG512360;NR_027034 Hs.659113 ncrna HGNC:50499 VALIDATED 1602296 PRR35 proline rich 35 16 16 16 p13.3 810776 815883 + 609836 615529 + 559836 565529 + 12477932 146325 P0CG20 ABBA01030362;AE006464;AMYH02031196;BC016613;CH471112;NM_145270;XM_005255130;XM_005255131;XM_006720849;Z97986 AAH16613;AAK61234;ADR82814;EAW85802;NP_660313;P0CG20;XP_005255187;XP_005255188;XP_006720912 Hs.632220 C16orf11;LA16c-366D1.2 OTTHUMP00000205085;hypothetical protein LOC146325;proline-rich protein 35;uncharacterized protein C16orf11;uncharacterized protein RJD1 APPROVED protein-coding ENSG00000161992 HGNC:14139 10046 VALIDATED 1604351 PRR5 proline rich 5 (renal) This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010] 22 22 22 q13 28976509 29045467 + 45064427 45133561 + 44668547 44737681 + 6484113;6480464;8554872 10591208;12477932;12529303;14702039;15498874;15718101;17461779;17599906;18505677;20379614;21906983;22554406;22990118;8889548 55615 A8K699;B1AHF5;B1AHG3;B1AHG4;E9PH80;F8WEZ7;G3V0G2;H0Y6F2;P85299 ABBA01017855;ABBA01017856;ABBA01017857;ABBA01017858;AF177331;AK000192;AK055848;AK056787;AK091884;AK291564;AMYH02038496;AMYH02038497;AMYH02038498;AMYH02038499;AY859540;BC016921;BI825567;BK005635;BK005636;BK005637;BK005638;BK005639;BM682583;CH471138;KF457483;KF457486;NG_029235;NM_001017528;NM_001017529;NM_001017530;NM_001198721;NM_015366;NM_181333;Z93244;Z98743 AAG17975;AAH16921;BAA90999;BAF84253;BAG51585;BAG52436;DAA05654;DAA05655;DAA05656;DAA05657;DAA05658;EAW73353;EAW73354;EAW73357;NP_001017528;NP_001017529;NP_001017530;NP_001185650;NP_056181;NP_851850;P85299 Hs.102336 1721069;2126713;2136341;2136368;5015881;5022200;5022450;5022578;5022588;5022651;5037552;5111947 AL021663;AL022545;D10S275;D11S2921;D1S1423;D5S1597E;D8S2279;G59517;GDB:335751;L18426;RH121893;WI-17470 FLJ20185;FLJ20185k;PP610;PROTOR-1;PROTOR1 OTTHUMP00000197416;OTTHUMP00000197417;OTTHUMP00000197418;OTTHUMP00000197419;OTTHUMP00000197422;OTTHUMP00000197424;OTTHUMP00000199336;OTTHUMP00000199337;Rho GTPase activating protein 8;proline rich protein 5;proline-rich protein 5;protein observed with Rictor-1 APPROVED protein-coding ENSG00000186654 HGNC:31682 18696 609406 REVIEWED 6767501 PRR7-AS1 PRR7 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 5 5 q35.3 176864890 176874945 - 177437889 177447944 - 8554872 12477932 340037 ABBA01033456;AC145098;AMYH02012836;BC041422;BM083785;HG498816;NR_038915;NR_038916 Hs.570879;Hs.738026 5022322 D11S2560 RP11-1334A24.4 APPROVED ncrna HGNC:27961 VALIDATED 1605618 PRR5L proline rich 5 like ENCODES a protein that exhibits ubiquitin protein ligase binding; INVOLVED IN negative regulation of protein phosphorylation; regulation of fibroblast migration; TORC2 signaling; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN TORC2 complex; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; calcitriol 11 11 11 p13-p12 36466181 36637921 + 36317725 36486754 + 36296175 36465204 + 6480464;8554872 12477932;14702039;16344560;17461779;18030348;18505677;20877624;21964062 79899 B3KNU3;E9PIU0;E9PJV4;E9PL62;E9PLJ6;E9PP25;E9PP62;E9PS02;Q6MZQ0 ABBA01060847;ABBA01060848;ABBA01060849;ABBA01060850;AC009656;AC087277;AK024275;AK026283;AK055042;AMYH02024605;AMYH02024606;AMYH02024607;BC008922;BC125122;BX640959;CH471064;DA269290;DA344861;DA449593;DA458327;DR001466;NM_001160167;NM_001160168;NM_001160169;NM_024841 AAH08922;AAI25123;BAB14870;BAG51455;CAE45978;EAW68123;EAW68124;NP_001153639;NP_001153640;NP_001153641;NP_079117;Q6MZQ0 Hs.19987 1663240;1667683;1678907;1679986;1857022;2138523;2155949 D11S3985;D11S4038;D11S4638;G19249;RH40044;RH48898;SGC34020 FLJ14213;FLJ22630;MGC16218;PROTOR2 OTTHUMP00000232636;OTTHUMP00000232640;OTTHUMP00000232771;Protein observed with Rictor-2;proline-rich protein 5-like;protor-2 protein-coding ENSG00000135362 HGNC:25878 07854 611728 VALIDATED 1345236 PRR7 proline rich 7 (synaptic) ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction (inferred); integral component of membrane (inferred); postsynaptic membrane (inferred); INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene 5 5 5 q35.3 171618357 171627632 - 176873796 176883287 + 177446795 177456286 + 737633;6480464;8554872 12477932 15629447;17207965;20383146;21460222;21988832;22703881 80758 D6RFJ4;Q8TB68 ABBA01033456;AC145098;AMYH02012836;BC004261;BC021240;BC024233;BC033649;BE277571;CH471195;CS123545;NM_001174101;NM_001174102;NM_030567 AAH04261;AAH21240;AAH24233;AAH33649;ACE86436;ACE87111;ADQ32679;CAJ18109;EAW84994;EAW84995;EAW84996;NP_001167572;NP_001167573;NP_085044;Q8TB68 Hs.534492 1850723 RH47231 MGC10772 OTTHUMP00000161454;OTTHUMP00000223842;OTTHUMP00000223843;OTTHUMP00000223844;proline-rich protein 7;synaptic proline-rich membrane protein protein-coding ENSG00000131188 HGNC:28130 15186 VALIDATED 1603285 PRR8 proline rich 8 ENCODES a protein that exhibits poly(A) RNA binding q36.3 12477932;12690205;12853948 92454 Q75LN9;Q75ML5;Q96EV2;Q9NSV0 AC009403;AC078834;AC092460;AL137724;BC011923;CH236954;CH471149;NM_053043 AAH11923;AAS01989;AAS02026;AAS07551;CAB70894;EAL23911;EAX04539;NP_444271;Q75LN9;Q75ML5;Q96EV2;Q9NSV0 Hs.585001 MGC20460 protein-coding HGNC:28293 11317 1346469 PRR4 proline rich 4 (lacrimal) This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcription also exists between this gene and the upstream PRH1 (proline-rich protein HaeIII subfamily 1) gene. [provided by RefSeq, Feb 2011] 12 12 12 p13 16146762 16466622 - 10998448 11002075 - 10845849 10849476 - 1580863;6480464;7240710;8554872 12477932;12665801;15146197;15489334;15526346;16344560;20379614;21139048;23272196;7544782 11272 F5H178;Q16378 ABBA01067807;AC006518;AF530472;AK292934;AK292991;AK304321;AK311715;AMYH02026029;BC058035;BX537839;CH471094;CN411028;DB229285;DB486049;NM_001098538;NM_007244;S79048 AAB35174;AAH58035;AAM94338;BAF85623;BAF85680;BAG65171;EAW96213;NP_001092008;NP_009175;Q16378 Hs.732031 1644124;1644652;1652619;1653074;1656276;1670804;1682247;1688666;1699744;1704224;1725899;1725929;1726083;1733222;1733612;1736192;1771287;2106687;2115363;2117195;2122241;2123322;2123514;2126936;2127023;2129410;2170018;2183380;2218814;2218816;2218818 D12S1123;D12S1137E;D12S1409;D12S841;D12S936;G41794;G62224;G62236;G62373;RH103478;RH41834;RH44895;RH46058;RH68584;RH71400;RH78796;RH79615;RH92305;SGC33675;SHGC-35333;SHGC-35334;SHGC-35693;SHGC-83138;STS-M13057;TAS2R14__5197;TAS2R44__5206;TAS2R49__5209;TAS2R50__5211;WI-11709;WI-17064;WI-21551 DKFZp779L1763;FLJ18757;LPRP;PROL4 OTTHUMP00000238923;OTTHUMP00000238924;OTTHUMP00000238926;lacrimal proline rich protein;lacrimal proline-rich protein;nasopharyngeal carcinoma-associated proline rich 4;nasopharyngeal carcinoma-associated proline-rich protein 4;proline-rich polypeptide 4;proline-rich protein 4 APPROVED protein-coding ENSG00000111215 HGNC:18020 09248 605359;613573 REVIEWED 4143661 PRR9 proline rich 9 INTERACTS WITH (2,4,5-trichlorophenoxy)acetic acid (ortholog); copper atom (ortholog); copper(0) (ortholog) 1 1 q21.3 153190060 153191793 + 153217584 153219317 + 6480464 574414 Q5T870 ABBA01049433;AI432195;AL161636;AMYH02001902;BX100130;CD387786;NM_001195571 NP_001182500;Q5T870 Hs.135098 1684802 RH80370 OTTHUMP00000015822;proline-rich protein 9 protein-coding ENSG00000203783 HGNC:32057 VALIDATED 1605150 PRR5-ARHGAP8 PRR5-ARHGAP8 readthrough The PRR5-ARHGAP8 mRNA is an infrequent but naturally occurring read-through transcript of the neighboring proline rich 5, renal (PRR5) and Rho GTPase activating protein 8 (ARHGAP8) genes. The resulting fusion protein contains sequence identity with each individual gene product, and it includes domains characteristic of a RhoGAP protein. The significance of this read-through transcript and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2010] 22 22 22 q13 29010302 29170596 + 45098382 45258664 + 44702502 44862784 + 6480464;8554872 10591208;12477932;15718101;19913121;20379614;20628086;20967262;21890473;21906983;22554406;22863734 553158 B1AHC3;F8W6F3;H0Y9T8 ABBA01017851;ABBA01017852;ABBA01017853;ABBA01017854;ABBA01017855;ABBA01017856;ABBA01017857;ABBA01017858;AF195968;AF195969;AL355192;AMYH02038498;AMYH02038499;AMYH02038500;AMYH02038501;AMYH02038502;AMYH02038503;AMYH02038504;AMYH02038505;AMYH02038506;AMYH02038507;BC132755;BC132757;BC144382;BI488517;BX335168;NM_181334;Z83838;Z93244;Z98743 AAI32756;AAI32758;AAI44383;AAK58136;AAK58137;ADR83179;CAB90248;NP_851851 Hs.102336 1339982;1687027;1689466;1709650;1711490;1711492;1721069;1747489;1754307;1777909;2115169;2126713;2136341;2136929;2145942;5094088 AL008674;AL021650;AL021655;AL021663;AL021670;D22S1168;G34965;G49246;G49247;G59517;G65368;RH67572;RH68401;SHGC-132331;SHGC-85190;WI-17470 ARHGAP8 OTTHUMP00000082599;OTTHUMP00000082600;OTTHUMP00000219406;OTTHUMP00000219407;OTTHUMP00000219408;PRR5-ARHGAP8 fusion;Rho GTPase activating protein 8 APPROVED protein-coding ENSG00000248405 HGNC:34512 18688 REVIEWED 2793691 PRRC2CP1 proline-rich coiled-coil 2C pseudogene 1 X Y Y p11.2 89625108 89625880 + 3417854 3418626 + 3549813 3550585 + 12815422;9847074 360018 ABBA01069791;AC019058;NG_002936 2111956 DXYS241 BAT2D1P1;BAT2L2P1 APPROVED pseudo ENSG00000216777 HGNC:23949 INFERRED 1350670 PRRC2A proline-rich coiled-coil 2A A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] 6 6 6 p21.3 33186676 33203776 + 31588450 31605554 + 31620673 31637777 + 1580863;2306964;2306963;6480464;8554872 10987645;15842729 10949724;11556964;12477932;14574404;14656967;14667819;15077289;15302935;15489334;15752841;16083285;16116311;16713569;16751776;16964243;17081983;17827388;17975119;18835879;19023099;19039607;19056867;19115949;19116923;19143821;19531213;19615732;19851445;19946888;20020773;20098615;20195357;20205591;20587610;20616199;20626023;21139048;21145461;2156268;21903422;21906983;21988832;22267201;22586326;23047821;23079975;23121087;23221128;23307926;23443559;23894747;24132900;24332808;24457600;24550385;24639526;24811749;24816145;2813433;8499947;8889548 7916 P48634 AA909001;AA969275;AB210034;ABBA01038083;AF075059;AF129756;AI383939;AI989927;AK297210;AK298584;AK302756;AK309774;AL662801;AL662847;AL805934;AMYH02013452;BA000025;BC030127;BC032134;BC042295;BC060668;BG423867;BM555411;BU684558;BX248305;BX474290;BX511262;CH471081;CR354443;CR749245;CR753892;CR759761;DC345271;M31293;M33509;M33512;M33518;NM_004638;NM_080686;XM_006715191;XM_006725507;XM_006725508;XM_006725723;XM_006725724;XM_006725833;XM_006725834;XM_006725922;XM_006726023;XM_006726024;XM_006726111;XM_006726112;Z15025 AAA35585;AAA35586;AAD18086;AAH30127;AAH32134;AAH42295;AAH60668;BAB63391;BAE06116;BAG59694;BAG60774;BAG63968;CAA78744;CAH18101;EAX03448;EAX03449;EAX03450;EAX03451;EAX03452;NP_004629;NP_542417;P48634;XP_006715254;XP_006725570;XP_006725571;XP_006725786;XP_006725787;XP_006725896;XP_006725897;XP_006725985;XP_006726086;XP_006726087;XP_006726174;XP_006726175 Hs.123239;Hs.436093 1679834;1793912;1847235;2176739;2191571;2191687;5104898 MARC_26623-26624:1034086275:1;MARC_5045-5046:996690083:1;N3_3_4;PMC30645P1;RH67814;SHGC-30262;SHGC-34407 BAT2;D6S51;D6S51E;DKFZp686D09175;G2 HLA-B associated transcript 2;HLA-B-associated transcript 2;OTTHUMP00000029233;OTTHUMP00000166020;large proline-rich protein BAT2;proline-rich and coiled-coil-containing protein 2A APPROVED protein-coding ENSG00000204469 HGNC:13918 00807 142580 REVIEWED 1346299 PRRC2B proline-rich coiled-coil 2B ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH ethyl methanesulfonate; quercetin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q34.13 104845673 104915750 + 134305477 134375584 + 131430090 131500191 + 737633;6480464;8554872 12477932 14702039;15146197;15164053;15489334;16189514;16713569;16751776;17081983;17203973;19615732;20360068;20508642;21139048;21832049;21903422;22586326;23088713;24816145;9628581 84726 H0Y412;H3BLU0;Q5JSZ5;Q5JSZ9;Q5JT00;Q9BU62 AB011087;ABBA01012096;ABBA01012097;AK025675;AK026025;AK026162;AK055916;AK303507;AK304849;AK309879;AL050142;AL137365;AL354855;AL358781;AMYH02021793;AMYH02021794;AY700780;BC002872;BC002969;BC012289;BC012451;BX647528;BX647842;CN369737;CR749818;CR933661;DQ593053;NM_013318 AAH02872;AAH02969;AAH12289;AAU10087;BAA25441;BAB15380;BAG64539;BAG65589;CAH18678;CAI45959;NP_037450;Q5JSZ5 Hs.743955 1664823;1680749;1730181;1735936;1740187;2172538;2180408 D9S1066E;D9S1672E;D9S1773;D9S181E;RH15979;RH47343;RH79994 BAT2L;BAT2L1;DKFZp781F05101;DKFZp781K12107;KIAA0515;LQFBS-1;MGC10526;RP11-334J6.1 HLA-B associated transcript 2-like 1;HLA-B-associated transcript 2-like 1;OTTHUMP00000022414;proline-rich coiled-coil protein 2B;protein BAT2-like 1 APPROVED protein-coding ENSG00000130723 HGNC:28121 VALIDATED 1313475 PRRG2 proline rich Gla (G-carboxyglutamic acid) 2 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); integral component of plasma membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4,6-trinitrotoluene (ortholog) 19 19 19 q13.33 46953927 46963605 + 50084574 50094272 + 49580644 49591008 + 1580863;6480464;8554872 11042109;11171957;12477932;15203218;17502622;23824909;23873930;8889548;9256434 5639 M0QXL9;M0QZA1;O14669 ABBA01032917;ABBA01032918;AC010619;AF009243;AMYH02036323;AMYH02036324;BC026032;CB851486;CD609900;CH471177;CR456846;KF456600;NM_000951;XM_005259060;XM_006723286;XR_430204 AAB67071;AAH26032;CAG33127;EAW52504;NP_000942;O14669;XP_005259117;XP_006723349 Hs.35101 1793820;1846657;2109699 PMC29263P1;PRRG2_8571;RH48503 PRGP2 proline-rich Gla (G-carboxglutamic acid) polypeptide 2;proline-rich Gla (G-carboxyglutamic acid) polypeptide 2;proline-rich Gla protein 2;proline-rich gamma-carboxyglutamic acid protein 2;transmembrane gamma-carboxyglutamic acid protein 2 protein-coding ENSG00000126460 HGNC:9470 09189 604429 VALIDATED 1343058 PRRG3 proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) This gene encodes a protein which contains a vitamin K-dependent carboxylation/gamma-carboxyglutamic domain. The encoded protein is a member of a family of vitamin K-dependent transmembrane proteins which contain a glutamate-rich extracellular domain. [provided by RefSeq, Aug 2011] X X X q28 151115147 151118431 + 150863730 150870063 + 151695258 151703869 + 1580863;6480464;8554872 11171957;12477932;14702039;15203218;16303743 79057 A6NDZ7;C9J7E6;H7C0C2;Q9BZD7 ABBA01037250;ABBA01037251;AF274854;AF326350;AK074574;AMYH02040782;BC128256;BC128409;CD631899;CH471169;CQ782534;NG_016589;NM_024082;NR_033262;XM_005274747;XM_006724845 AAI28257;AAI28410;AAK00955;BAC11069;CAF85816;EAW99407;NP_076987;Q9BZD7;XP_005274804;XP_006724908 Hs.592236 1793822;2107677 PMC29263P2;TMG3__5097 MGC149510;MGC156177;PRGP3;TMG3 OTTHUMP00000025873;proline-rich Gla protein 3;proline-rich gamma-carboxyglutamic acid protein 3;transmembrane gamma-carboxyglutamic acid protein 3 APPROVED protein-coding ENSG00000130032 HGNC:30798 06742 300685 VALIDATED 1346309 PRRG4 proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; copper atom 11 11 11 p13 32998259 33022871 + 32851309 32879669 + 32829763 32858123 + 737633;1580863;6480464 12477932 11171957;15489334;18029348;19772629;21988832;23873930 79056 Q9BZD6 ABBA01060903;ABBA01060904;AC244259;AF326351;AL035400;BC010052;BC063393;CH471064;NM_024081;XM_005253131;XM_006718313;XM_006718314 AAH10052;AAH63393;AAK00956;ABM83810;ABM87132;EAW68215;NP_076986;Q9BZD6;XP_005253188;XP_006718376;XP_006718377 Hs.471695 1674296;1704950;1744069;5015879;5015961;5016478;5020740;5022651 D11S2921;D15S1477;GDB:314949;GDB:385469;GDB:434012;L17809;SHGC-79959;WI-17370 PRGP4;TMG4 OTTHUMP00000232198;proline-rich Gla protein 4;proline-rich gamma-carboxyglutamic acid protein 4;transmembrane gamma-carboxyglutamic acid protein 4 protein-coding ENSG00000135378 HGNC:30799 15187 611690 VALIDATED 1601934 PRRC1 proline-rich coiled-coil 1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi apparatus (inferred); INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; cyclosporin A 5 5 5 q23.2 122984117 123021592 + 126853301 126890781 + 127517609 127555089 + 6480464;8554872 12477932;14702039;15541471;16055720;16344560;19322201;20360068;21139048;21832049;22863883;24250222;24816145 133619 Q96M27 ABBA01068878;AC010424;AJ427339;AJ441110;AJ496322;AJ515158;AJ515428;AJ515429;AK057437;AK090486;AL831963;AL832056;AL832600;AMYH02012162;AW007860;BC017066;BX099255;CH471062;DA605419;DA808343;NM_001286808;NM_130809;XM_006714529 AAH17066;ACE86667;ACE87351;ADZ15400;BAB71487;BAC03467;CAD22113;CAD29585;CAD38605;CAD42881;CAD56438;CAD56439;CAD56470;CAH10384;EAW62402;EAW62403;EAW62404;EAW62405;NP_001273737;NP_570721;Q96M27;XP_006714592 Hs.483259 1680152;1697014;1760263;1770562;1780936;1780938;2125449;2131288;2154148;2178481;2184089;7186103 D5S2674;RH101983;RH45474;RH65375;RH91133;SHGC-132570;SHGC-36133;STS-H97470;UniSTS:10058;bac5347T;bac5351S FLJ32875 OTTHUMP00000159233;OTTHUMP00000223090;OTTHUMP00000223091;OTTHUMP00000223468;proline-rich and coiled-coil-containing protein 1 protein-coding ENSG00000164244 HGNC:28164 14052 VALIDATED 1345386 PRRT1 proline-rich transmembrane protein 1 FOUND IN cell junction (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH benzo[a]pyrene; fonofos; parathion 6 6 6 p21.32 33683181 33686760 - 32116140 32119720 - 32148358 32152102 - 6480464 12477932;14656967;14702039;15489334;19116923;19143821;19851445;22363774;23326239;23382691 80863 A2ABC7;Q99946 ABBA01038106;AF085841;AK054885;AK123424;AL662828;AL662884;AL845464;AMYH02013467;BC013201;BC063046;BX284686;BX927239;CH471081;CR753803;CR812478;CR933878;NM_030651;U89336;XM_006715221;XM_006715222;XM_006725051;XM_006725530;XM_006725749;XM_006725855;XM_006725945;XM_006726045;XM_006726134 AAB47496;AAH13201;AAH63046;BAB70821;EAX03588;EAX03589;EAX03590;NP_085154;Q99946;XP_006715284;XP_006715285;XP_006725114;XP_006725593;XP_006725812;XP_006725918;XP_006726008;XP_006726108;XP_006726197 Hs.549204;Hs.699821 1697398;1699000 RH102199;RH103071 C6orf31;DSPD1;IFITMD7;NG5 OTTHUMP00000029194;OTTHUMP00000029195;chromosome 6 open reading frame 31;dispanin subfamily D member 1;interferon induced transmembrane protein domain containing 7 protein-coding ENSG00000204314 HGNC:13943 10794 VALIDATED 6481377 PRRT3-AS1 PRRT3 antisense RNA 1 3 3 9989088 9996471 + 9947404 9954787 + 100874032 ABBA01020396;AC018809;AI861893;AMYH02006242;BQ000843;HG495472;NR_046734 Hs.616388 AC018809.6 APPROVED ncrna ENSG00000230082 HGNC:41151 PREDICTED 1605239 PRRT3 proline-rich transmembrane protein 3 FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; coumestrol 3 3 3 p25.3 9922670 9929520 - 9987226 9994078 - 9945542 9952394 - 6480464 12477932;12975309;14702039;15340161;15489334;16344560;24250222 285368 Q5FWE3 ABBA01020396;AC018809;AK090993;AMYH02006242;AY358158;BC040508;BC089447;BC111555;CH471055;DA198780;NM_207351;XR_245125;XR_427267 AAH40508;AAH89447;AAI11556;AAQ88525;BAC03564;EAW64044;EAW64045;NP_997234;Q5FWE3 Hs.598147 5022578;5037552;5493179 D1S1423;D8S2279;UniSTS:484624 FLJ33674;MGC105134;MGC33990 OTTHUMP00000207672;OTTHUMP00000207674 protein-coding ENSG00000163704 HGNC:26591 16935 VALIDATED 1602444 PRRT2 proline-rich transmembrane protein 2 This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 16 16 16 p11.2 72969059 72972852 - 29823409 29827202 + 29812088 29815881 + 6480464;7240710;8554872;8699517 12477932;14702039;16169070;16303743;16344560;17207965;20301334;20301633;22101681;22120146;22131361;22209761;22243967;22360420;22363774;22386217;22399141;22464846;22543779;22623405;22744660;22752065;22782515;22832103;22845787;22870186;22875091;22877996;22902309;22902423;22985072;23063574;23073245;23077016;23077017;23077018;23077019;23077024;23077026;23126439;23131349;23176561;23180180;23182655;23190448;23299620;23343561;23352743;23360469;23363396;23398397;23436308;23456995;23529024;23532549;23535490;23566103;23771590;23896529;23963607;24101679;24250222;24370076;24372385;24928127;8125298;9382100;9860304 112476 H3BN10;I3L0R5;Q7Z6L0 ABBA01013117;AC009133;AC243914;AK074572;AK092265;AK098379;AK225785;AK292393;AL834185;BC011405;BC053594;BG702892;CH471238;CQ782530;DA346262;DC332235;H46459;NG_032039;NM_001256442;NM_001256443;NM_145239;XM_006721006 AAH11405;AAH53594;ADQ32535;BAC03843;BAC11067;BAF85082;CAD38881;CAF85814;EAW79990;EAW79991;EAW79992;EAW79993;NP_001243371;NP_001243372;NP_660282;Q7Z6L0;XP_006721069 Hs.655071 1335088;1336330;1342123;1649937;1679796;2126739;7187772 D16S2588E;D16S3080;D16S3093;D16S416;D16S429E;RH17219 BFIC2;BFIS2;DKFZp547J199;DSPB3;DYT10;EKD1;FLJ25513;ICCA;IFITMD1;PKC FICCA;OTTHUMP00000162999;dispanin subfamily B member 3;infantile convulsions and paroxysmal choreoathetosis;interferon induced transmembrane protein domain containing 1 APPROVED protein-coding ENSG00000167371 HGNC:30500 13995 128200;602066;605751;614386 REVIEWED 1351775 PRRC2C proline-rich coiled-coil 2C ENCODES a protein that exhibits poly(A) RNA binding; protein C-terminus binding; INVOLVED IN hematopoietic progenitor cell differentiation (inferred); FOUND IN membrane; INTERACTS WITH (S)-nicotine; 17beta-estradiol; all-trans-retinoic acid 1 1 1 q23.3 144564070 144672045 + 171454652 171562650 + 171485513 171593511 + 6480464 10470851;12443540;12477932;14702039;15747776;16712791;17577209;19322201;19946888;20020773;20379614;21139048;21890473;22108332;22586326;22623428;23443559;23455922;23535033;24244333;24250222;24639526;24811749;24816145 23215 E7EPN9;H7C5N8;Q9Y520 AB029019;ABBA01027926;ABBA01027927;ABBA01027928;ABBA01027929;AF253978;AF488829;AK000190;AK022492;AK095231;AK124374;AK297263;AK298887;AK304841;AL021579;AL049762;AL096857;AL133635;AL162004;AMYH02002141;BC001260;BC006090;BC026108;BC045713;BC058930;BC066968;CB158511;CH471067;HI573960;KF455073;NM_015172;XM_005245015;XM_005245016;XM_005245017;XM_005245018;XM_005245019;XM_005245020;XM_005245022;XM_005245023;XM_005245024;XM_005245025;XM_005245026;XM_005245027;XM_005245028;XM_005245029;XM_005245030;XM_006711238;XM_006711239;Z98750 AAG44627;AAH06090;AAH45713;AAH58930;AAO49478;BAA83048;BAA90997;BAB14056;BAG59739;BAG61000;BAG65584;CAB51071;CAB63759;CAB82345;CBX47469;EAW90898;EAW90899;EAW90900;EAW90901;EAW90902;NP_055987;Q9Y520;XP_005245072;XP_005245073;XP_005245074;XP_005245075;XP_005245076;XP_005245077;XP_005245079;XP_005245080;XP_005245081;XP_005245082;XP_005245083;XP_005245084;XP_005245085;XP_005245086;XP_005245087;XP_006711301;XP_006711302 Hs.494614 1651537;1670480;1691806;1692842;1693452;1693700;1699110;1719365;1739341;2173029;2178396;2181620;5018993;5020948;5037552;5095993;5102961;5109281 D1S1425;D6S1397E;D8S2279;G35510;G42259;G42279;G42288;RH103131;RH123410;RH143551;RH46048;RH48828;RH64520;SHGC-35127;SHGC-58618;SHGC-58908;SHGC-75919;WI-18049 BAT2-iso;BAT2D1;BAT2L2;XTP2 BAT2 domain containing 1;BAT2 domain-containing protein 1;HBV X-transactivated gene 2 protein;HBV XAg-transactivated protein 2;HBxAg transactivated protein 2;HLA-B associated transcript 2-like 2;HLA-B-associated transcript 2-like 2;OTTHUMP00000213041;OTTHUMP00000213044;proline-rich and coiled-coil-containing protein 2C;protein BAT2-like 2 APPROVED protein-coding ENSG00000117523 HGNC:24903 16539 VALIDATED 1350141 PRRG1 proline rich Gla (G-carboxyglutamic acid) 1 This gene encodes a vitamin K-dependent, gamma-carboxyglutamic acid (Gla)-containing, single-pass transmembrane protein. This protein contains a Gla domain at the N-terminus, preceded by a propeptide sequence required for post-translational gamma-carboxylation of specific glutamic acid residues by a vitamin K-dependent gamma-carboxylase. The C-terminus is proline-rich containing PPXY and PXXP motifs found in a variety of signaling and cytoskeletal proteins. This gene is highly expressed in the spinal cord. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] X X X p21.1 41346185 41454238 + 37208528 37316548 + 37349275 37457295 + 1580863;6480464 12477932;15489334;15772651;16344560;16712791;17207965;19322201;19953087;21890473;23940030;9256434 5638 C9J6P5;C9JNY5;O14668;Q8NEK6 ABBA01047126;ABBA01047127;ABBA01047128;ABBA01047129;ABBA01047130;ABBA01047131;ABBA01047132;ABBA01047133;ABBA01047134;ABBA01047135;ABBA01047136;ABBA01047137;ABBA01047138;ABBA01047139;ABBA01047140;AC245096;AF009242;AK312904;AL356858;AMYH02039169;BC012608;BC030786;BC041591;BC060833;BX097465;CB134819;CH471141;DA245329;DA411839;DA417581;DB286340;NG_016770;NM_000950;NM_001142395;NM_001173486;NM_001173489;NM_001173490 AAB67070;AAH30786;AAH60833;ADQ33034;BAG35750;CAI40412;EAW59457;EAW59458;NP_000941;NP_001135867;NP_001166957;NP_001166960;NP_001166961;O14668 Hs.190341 1733694;2151632 DXS6680;RH36419 PRGP1 OTTHUMP00000023139;OTTHUMP00000215928;OTTHUMP00000215929;OTTHUMP00000215930;OTTHUMP00000215931;proline-rich Gla (G-carboxyglutamic acid) polypeptide 1;transmembrane gamma-carboxyglutamic acid protein 1 APPROVED protein-coding ENSG00000130962 HGNC:9469 05113 604428 REVIEWED 8661387 PRRX2-AS1 PRRX2 antisense RNA 1 9 9 132475181 132480957 - 129712902 129718678 - 101929437 ABBA01043942;ABBA01043943;ABBA01043944;AL590369;AMYH02021744;XR_242690;XR_250555;XR_252661 ncrna ENSG00000236024 HGNC:50684 MODEL 1343772 PRS Prieto X-linked mental retardation syndrome ASSOCIATED WITH Prieto X-linked mental retardation syndrome (inferred) 7240710 1605216;1673297 5640 HGNC:9471 309610 1606834 PRRX1 paired related homeobox 1 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008] 1 1 1 q24 143742929 143818153 + 170633313 170708541 + 170662728 170739400 + 6480464;7240710;8554872;8699517 10397741;10737800;11036080;11063257;11463719;12477932;12539042;1509260;15489334;16582099;16710414;18029348;18296734;18604245;18978678;20301702;20634891;21323949;22198066;22544366;22566498;23201163;23807160;7760827;8125298;9334314 5396 G3V2N3;P54821 AA452918;AA758879;AB451463;ABBA01027942;AK225968;AMYH02002125;AMYH02002126;AV750422;BC074993;BI039001;CH471067;KF455066;NG_031856;NM_006902;NM_022716;XM_006711388;Z97200 AAH74993;ABZ92177;BAG70277;EAW90882;EAW90883;NP_008833;NP_073207;P54821;XP_006711451 Hs.283416 1653518;1659323;1798026;1850869;1855068;1856387 G15917;G31141;PRRX1_2266;SHGC-57664;SHGC-75887;SHGC-75888 PHOX1;PMX1;PRX-1;PRX1 AGOTC;OTTHUMP00000033166;OTTHUMP00000033167;OTTHUMP00000245225;homeobox protein PHOX1;paired mesoderm homeo box 1;paired mesoderm homeobox 1 isoform pmx-1b;paired mesoderm homeobox protein 1;paired-related homeobox protein 1 APPROVED protein-coding ENSG00000116132 HGNC:9142 01337 167420;202650 REVIEWED 1349554 PRSM2 protease, metallo, 2 5643 HGNC:9474 735824 PRSS1 protease, serine, 1 (trypsin 1) This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008] 7 7 7 q34 137264071 137267679 + 142457319 142460927 + 142749468 142753076 + 1599960;1599965;1599966;1599961;1599967;1580863;2324899;6480464;7240710;8554872;8699517 11062314;18428024;3833185;8625754;8841182;9688663 10204851;10381903;10419450;10512713;10835640;10909845;10930381;11057674;11073545;11073713;11260229;11278730;11549837;11702203;11708864;11719509;11734061;11788572;11866271;11932257;11938439;12021776;12120220;12120234;12189145;12360463;12395893;12477932;12529713;12543931;12690205;12765848;12792776;12832630;12939655;1370825;14526128;14695529;14718574;15017610;15082592;15174051;15329520;15342556;15651064;15678497;15725718;15749231;15776435;15786540;15952740;16327984;16534247;16685108;16764792;16954950;17003641;17069643;17087724;17474147;17480209;17489851;17613931;1763044;17641559;17981921;18063422;18076731;18184119;18272034;18461367;18511571;18522894;18580441;18702646;18755888;18781797;18852684;18946221;18953248;18986377;19077465;19096130;19433603;19454815;19550412;19593166;19654461;19657220;19690177;19801634;19951905;20001681;20198321;20452997;20484960;20502448;20676769;20950468;21139048;21415673;21499207;21792085;21922221;21952138;22088471;22094894;22109105;22379635;22427236;22539344;22699143;22722260;22939629;23143602;23443559;23474566;23601753;23745029;23745036;23751316;23801884;23864476;23882137;23951356;24134754;24146905;2437112;24403079;24413785;24525505;24624459;24639526;2598466;3011602;6589790;8340386;8650574;8683601;8910369;9169621;9322498;9402754;9633818;9732462 5644 E7EQ64;H0Y8D1;P07477 AA835201;ABBA01034128;AC231380;AC244472;AF314534;AF315309;AF315310;AF315311;AK293375;AK312199;AY234116;AY234117;AY234118;AY234119;AY234120;AY234121;AY234122;AY234123;AY254094;AY254095;AY307359;AY307360;BC035777;BC128226;BP321959;BP321999;CA948204;CH236959;CH471198;CR627200;CS423469;DQ128082;DQ778083;L36092;M22612;NG_001333;NG_008307;NM_002769;U70137 AAA61231;AAC50728;AAC80207;AAG30943;AAG30947;AAG30948;AAG30949;AAI28227;AAO85796;AAO85797;AAO85798;AAO85799;AAO85800;AAO85801;AAO85802;AAP42827;AAP42828;AAP59550;AAP74363;AAP74364;AAZ40216;ABI63347;BAG35132;BAG56887;CAL49864;EAL23773;EAW51925;NP_002760;P07477 Hs.449281 1739209;2171990;5014816 D7S2277;D7S2928;PRSS1 DKFZp779A0837;FLJ57296;MGC120175;MGC149362;TRP1;TRY1;TRY4;TRYP1 OTTHUMP00000213668;OTTHUMP00000213669;OTTHUMP00000213670;beta-trypsin;cationic trypsinogen;digestive zymogen;nonfunctional trypsin 1;pancreatic trypsin 1;serine protease 1;trypsin I;trypsin-1;trypsinogen 1;trypsinogen A APPROVED protein-coding ENSG00000204983 HGNC:9475 02039 167800;276000;614044 REVIEWED 1347326 PRSS2 protease, serine, 2 (trypsin 2) This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008] 7 7 7 q34 137305959 137309542 + 974016 977604 + 142770976 142774560 + 1580863;2324904;2324899;2324908;6480464;7240710;8554872 18338334;18428024;8621252 1079768;11073713;11106574;11355948;11391623;11420435;12477932;12690205;12709065;12731883;12775419;12949286;14695529;15651064;15776435;15952740;16192646;16699518;1763044;17640760;18062964;18063422;18362849;18461367;18986305;19052022;19077465;19096130;19690177;19752771;20304780;20428826;20484960;20517765;20625975;21792081;21946810;22357509;22379635;22481290;22909050;23143602;23882137;24146905;2598466;2610933;3011602;8478942;8573092;8650574;9261109;9578462;9732462;9822200 5645 A6XMV8;A6XMV9;P07478;Q5NV56 ABBA01034128;AC239618;AC245427;AF009664;AY052784;BC005814;BC030260;BC103997;BC103998;BC107784;CH236959;CH471198;DQ846872;DQ846873;L36092;M27602;NG_001333;NG_008322;NM_002770;XM_005276996;XM_005276998;XM_006716052;XM_006716053;XM_006725058 AAA61232;AAC13351;AAC80209;AAH05814;AAI03998;AAI03999;AAI07785;AAL14244;ABI63359;ABI63360;ABM81970;ABM85149;EAL23774;EAW51922;EAW51923;EAW51924;NP_002761;P07478;XP_005277053;XP_005277055;XP_006716115;XP_006716116;XP_006725121 Hs.449281;Hs.726742;Hs.728780 1660942;5014816 D7S2928;STS-X15505 MGC111183;MGC120174;MGC120175;TRY2;TRY8;TRYP2 anionic trypsinogen;protease serine 2 preproprotein;protease, serine, 2, preproprotein;serine protease 2;trypsin 2;trypsin II;trypsin-2;trypsinogen 2 APPROVED protein-coding ENSG00000275896 HGNC:9483 03335 167800;601564 REVIEWED 3051273 PRRT4 proline-rich transmembrane protein 4 FOUND IN integral component of membrane (inferred); INTERACTS WITH dibutyl phthalate (ortholog); furan (ortholog); pentachlorophenol (ortholog) 7 7 7 q32.1 122793499 122804851 - 127990379 128001739 - 128350325 128361910 - 6480464 11181995;12477932;12690205;19913121;20628086;21906983;8889548 401399 C9JH25;C9JQT1;C9JVX5;C9JWH6;H7C4Q3 ABBA01057676;AC010655;AMYH02016715;BC063892;BU688038;BX327107;BX355277;CH236947;CH471070;NM_001114726;NM_001174164;XM_005250342;XM_005250343;XM_005250344;XM_006715984;XM_006715985 C9JH25;EAL24313;EAW83645;EAW83646;EAW83647;EAW83648;NP_001108198;NP_001167635;XP_005250399;XP_005250400;XP_005250401;XP_006716047;XP_006716048 Hs.381096 2129111 RH44851 OTTHUMP00000212391;OTTHUMP00000212392;OTTHUMP00000212393 protein-coding ENSG00000224940 HGNC:37280 VALIDATED 1344108 PRSS21 protease, serine, 21 (testisin) This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 16 16 16 p13.3 3067095 3071651 + 2867164 2871723 + 2817163 2821722 + 1580863;6480464;8554872 10397266;10600542;11004480;12477932;12975309;15489334;15685234;16810501;18029348;19571264;20211623;21963094;21987572;22268729;9826525 10942 I3L0U2;I3L2G7;I3L3C7;I3L3F7;Q9Y6M0 AA860356;AB031329;AB031330;AB031331;ABBA01026714;AC005361;AC092117;AF058300;AF058301;AMYH02031274;AY359034;BC074999;BC075000;BG717268;BI334059;BI827608;BX454526;CB529999;CH471112;NM_001270452;NM_006799;NM_144956;NM_144957;NR_073012;XM_005255051 AAD41588;AAF79019;AAF79020;AAH74999;AAH75000;AAQ89393;BAA83520;BAA83521;BAA89532;EAW85463;EAW85464;EAW85465;EAW85466;EAW85467;NP_001257381;NP_006790;NP_659205;NP_659206;Q9Y6M0;XP_005255108 Hs.72026 1668788;2108403 PRSS21_7984;RH66608 ESP-1;ESP1;TEST1 OTTHUMP00000159183;eosinophil serine protease 1;serine protease 21;serine protease from eosinophils;testisin APPROVED protein-coding ENSG00000007038 HGNC:9485 07082 608159 REVIEWED 1315387 PRSS16 protease, serine, 16 (thymus) This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p21 28821515 28830412 + 27215480 27224399 + 27247723 27256620 + 1580863;6480464;8554872 10527559;12140752;14574404;14702039;15592422;17584581;19295542;19571808;19571809;22384243;22488895;8812418 10279 B4DZV2;C9JDN6;F2Z2N5;F8WBG5;F8WF25;H0Y893;H0Y8B9;Q9NQE7 AA580758;ABBA01037991;AF052514;AK093590;AK097918;AK098033;AK126160;AK226091;AK303106;AK314037;AL021808;AMYH02013380;AY305022;AY305023;AY305024;AY305025;BG119060;CH471081;NM_005865 AAC33563;AAI56192;AAI56929;AAP74971;AAP74972;AAP74973;AAP74974;BAG53551;BAG64214;EAX03088;EAX03089;NP_005856;Q9NQE7 Hs.274407 1659688;1700590;1767531 D6S2339;RH103917;RH36539 FLJ36271;FLJ40714;FLJ44172;TSSP OTTHUMP00000017777;serine protease 16;thymus specific serine peptidase;thymus-specific serine protease APPROVED protein-coding ENSG00000112812 HGNC:9480 06205 607169 REVIEWED 1346659 PRSS23 protease, serine, 23 This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 11 11 11 q14.1 83822885 83833669 + 86511288 86522275 + 86800246 86811233 + 1580863;6480464 11076863;11230166;11256614;12477932;12878157;12975309;15489334;15489336;16169070;16303743;16344560;16381901;16712791;16870946;19199708;19322201;20532202;21832049;21890473;22291950;23353556;23648065 11098 E9PIB7;E9PMX2;E9PRR2;O95084 ABBA01017320;AF015287;AF193611;AK075362;AK304054;AK304301;AK315562;AL136914;AL832007;AMYH02025236;AP000654;AP001528;AU279649;AY359033;BC001278;BC063022;BG286404;BP206707;BU634437;CB113923;CH471076;CR456824;CX871294;DA396057;DA600625;DA895063;DA910788;DN917578;HG504075;NM_001293178;NM_001293179;NM_001293180;NM_007173;NR_120591;NR_120592;NR_120593;XM_005273727;XR_424260;XR_428964;XR_432738 AAD01553;AAF07186;AAH01278;AAQ89392;BAG37938;BAG52121;BAG64963;BAG65155;CAB66848;CAG33105;CAL37410;CAL38408;EAW75145;EAW75146;NP_001280107;NP_001280108;NP_001280109;NP_009104;O95084;XP_005273784 Hs.25338;Hs.729257 1671285;2109701 PRSS23_9218;SHGC-34130 MGC5107;SIG13;ZSIG13 OTTHUMP00000235513;SPUVE;putative secreted protein Zsig13;serine protease 23;serine protease, umbilical endothelium APPROVED protein-coding ENSG00000150687;ENSG00000254731 HGNC:14370 07149 REVIEWED 1322947 PRRX2 paired related homeobox 2 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. [provided by RefSeq, Jul 2008] 9 9 9 q34.1 103078740 103135771 + 132427920 132484953 + 129665641 129722674 + 1580863;6480464 11063257;11893718;12477932;12713735;15489334;15496970;16582099;17964282;20585627;20634891;21385867;9665387 51450 Q99811 ABBA01043941;ABBA01043942;ABBA01043943;ABBA01043944;AF061970;AL590369;AMYH02021742;AMYH02021743;AMYH02021744;BC014645;CH471090;NM_016307;U81600;XM_006717142 AAB39864;AAF17708;AAH14645;EAW87901;NP_057391;Q99811;XP_006717205 Hs.660115 1652480;1697206;1729819;1763027;1787168;7185922 D9S62;RH102095;SHGC-146771;SHGC-156288;STS-U81600 MGC19843;PMX2;PRX-2;PRX2 OTTHUMP00000022344;OTTHUMP00000245229;paired mesoderm homeobox protein 2;paired-like homeodomain protein PRX2;paired-related homeobox protein 2 APPROVED protein-coding ENSG00000167157 HGNC:21338 05244 604675 REVIEWED 1343422 PRSS29P protease, serine, 29, pseudogene ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 16 16 16 p13.3 1525335 1528339 - 1311004 1314005 - 1261003 1264004 - 6480464 15616553;17947681 123787 A6NIE9 ABBA01030319;AC120498;AF529082;AMYH02031223;NG_002329 A6NIE9 ISP2 APPROVED pseudo ENSG00000196364 HGNC:17542 INFERRED 1353298 PRSS27 protease, serine 27 Pancreasin is a pancreatic tryptic serine peptidase that cleaves peptides after an arginine residue.[supplied by OMIM, Sep 2003] 16 16 16 p13.3 2961991 2970120 - 2762423 2770552 - 2712422 2720551 - 6480464 12441343;12477932;12975309;14702039;15489334;18948266;23447538 83886 H3BSV0;Q9BQR3 AB056161;ABBA01026711;AC092117;AJ306593;AK055576;AK310214;AMYH02031271;AY030095;AY359106;BC034294;BC036912;CH471112;NM_031948;XM_005255617 AAH34294;AAK38168;AAQ89464;BAB85497;BAG51537;CAC35467;EAW85485;EAW85486;NP_114154;Q9BQR3;XP_005255674 Hs.332878 5022200;5037552;5118444 D11S3316;D8S2279;L18426 CAPH2;MPN OTTHUMP00000159181;channel-activating protease 2;marapsin;pancreasin;serine protease 27 APPROVED protein-coding HGNC:15475 07451 608018 VALIDATED 2303662 PRSS30P protease, serine, 30, pseudogene INTERACTS WITH aflatoxin B1; benzo[a]pyrene; quercetin 16 16 16 p13.3 3089537 3092715 - 2889574 2892752 - 2839573 2842751 - 6480464 10786627;12477932;14702039;20210993 124221 ABBA01026714;AC003965;AC005361;AK122946;AMYH02031274;BC041609;BC042597;CH471112;KF459802;NR_026864 EAW85457;EAW85458;EAW85459;EAW85460;EAW85461 Hs.434388 Disp;FLJ16659;MGC52282;TMPRSS8;TMPRSS8P APPROVED pseudo ENSG00000172460 HGNC:28753 07132 VALIDATED 733403 PRSS12 protease, serine, 12 (neurotrypsin, motopsin) This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010] 4 4 4 q28.1 116492317 116565055 - 119201193 119274053 - 118280038 118352896 - 704346;737771;1580863;6480464;7240710;8699517;8554872 12459588;9245503 10103056;10343120;12477932;20332099;9540828 8492 P56730;Q96I80 A83630;ABBA01063873;ABBA01063874;ABBA01063875;AC096762;AF077298;AJ001531;AMYH02009984;BC007761;BG386264;CH471057;NG_023350;NM_003619;XM_005263318 AAD25919;AAH07761;CAA04816;CAB69270;EAX06317;EAX06318;NP_003610;P56730;XP_005263375 Hs.445857 1763593;2131695;2144618 D4S597;SHGC-147288;SHGC-59624 BSSP-3;BSSP3;MGC12722;MRT1 OTTHUMP00000163901;brain-specific serine protease 3;leydin;motopsin;neurotrypsin;serine protease 12 APPROVED protein-coding ENSG00000164099 HGNC:9477 05989 249500;606709 REVIEWED 1322033 PRSS22 protease, serine, 22 This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3102706 3108151 - 2902728 2908625 - 2852727 2858630 - 1580863;6480464;8554872 11602603;12477932;12975309;15489334;15616553;15701722;16176265;17207965 64063 I3L116;I3L147;Q9GZN4 AB010779;ABBA01026714;AC003965;AF321182;AK309624;AMYH02031274;AW083723;AY358396;BC009726;BQ893064;CH471112;NM_022119;XM_005255473;XM_006720915 AAB93671;AAG35070;AAH09726;AAQ88762;ADQ32326;BAB20263;EAW85456;NP_071402;Q9GZN4;XP_005255530;XP_006720978 Hs.459709 BSSP-4;MGC9599;SP001LA;hBSSP-4 OTTHUMP00000159207;brain-specific serine protease 4;prosemin;protease, serine S1 family member 22;serine protease 22;serine protease 26;tryptase epsilon APPROVED protein-coding ENSG00000005001 HGNC:14368 08336 609343 REVIEWED 1323608 PRSS33 protease, serine, 33 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 16 16 16 p13.3 3033522 3036276 - 2833954 2837943 - 2783953 2787942 - 6480464 12477932;12795636;21832049 260429 I3L1S0;I3L3D7;Q8NF86 ABBA01026714;AC092117;AF536382;AMYH02031274;AX676264;BC036846;BC062334;CH471112;CS359990;NM_152891;XM_005255241 AAH36846;AAH62334;AAN04055;CAD83828;CAL31934;EAW85469;EAW85470;NP_690851;Q8NF86;XP_005255298 Hs.280658 EOS serine protease 33;serine protease EOS protein-coding ENSG00000103355 HGNC:30405 07109 613797 VALIDATED 1322654 PRSS35 protease, serine, 35 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; cytarabine 6 6 6 q14.2 84655461 84668694 + 84222194 84235423 + 83512475 83525704 + 6480464;8554872 12477932;12975309;16344560;16870946;20511563;20877624;23092984 167681 Q8N3Z0 ABBA01040456;ABBA01040457;AK291928;AL121939;AMYH02014017;AY358661;BC037170;CH471051;DA251169;NM_001170423;NM_153362 AAH37170;AAQ89024;ADZ15635;BAF84617;EAW48662;EAW48663;NP_001163894;NP_699193;Q8N3Z0 Hs.98381 1678129 RH93487 C6orf158;MGC46520;dJ223E3.1 OTTHUMP00000016793;inactive serine protease 35 protein-coding ENSG00000146250 HGNC:21387 07095 VALIDATED 734183 PRSS3 protease, serine, 3 This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is expressed in the brain and pancreas and is resistant to common trypsin inhibitors. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene is localized to the locus of T cell receptor beta variable orphans on chromosome 9. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2010] 9 9 9 p11.2 33682374 33731080 + 33750464 33799229 + 33750466 33799231 + 1580863;6480464;8554872 11057674;11827488;12477932;12860985;14507909;15174051;15313892;15855826;15987713;16013053;16412431;16492676;16759229;17207965;17406981;17623652;18363639;18665091;18711365;19249338;19920152;19924134;20035377;20484962;20947888;21139048;21906983;21907836;22042864;2326201;24146905;24872419;6698368;7498454;8294000;9099703 5646 B1AN99;P35030;Q7Z5F4 AB298285;AB298286;ABBA01065042;AF029308;AL139113;AL356489;AL358573;AMYH02019428;AMYH02019429;AY052783;BC030238;BC069476;BC069494;CH471071;D45417;NG_001337;NG_029635;NM_001197097;NM_001197098;NM_002771;NM_007343;X15505;X71345;X72781;XM_005251519 AAC13322;AAH30238;AAH69476;AAH69494;AAL14243;ADQ32676;BAA08257;BAF80324;BAF80325;CAA33527;CAA50484;CAB58178;EAW58481;EAW58482;EAW58483;EAW58484;NP_001184026;NP_001184027;NP_002762;NP_031369;P35030;XP_005251576 Hs.654513 1660942;1693766;1747843 G65748;SHGC-58840;STS-X15505 MTG;PRSS4;T9;TRY3;TRY4 OTTHUMP00000021237;OTTHUMP00000021238;OTTHUMP00000021239;brain trypsinogen;mesotrypsin;mesotrypsinogen;pancreatic trypsin 2;pancreatic trypsinogen III;protease, serine, 3 (mesotrypsin);protease, serine, 4 (trypsin 4, brain);serine protease 3;serine protease 4;trypsin 3;trypsin III;trypsin IV;trypsin-3;trypsinogen 4;trypsinogen 5;trypsinogen IV APPROVED protein-coding ENSG00000010438 HGNC:9486 06685 613578 REVIEWED 1604524 PRSS36 protease, serine, 36 ENCODES a protein that exhibits serine-type endopeptidase activity; INVOLVED IN proteolysis (inferred); FOUND IN cytoplasm; INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 16 16 16 p11.2 29136608 29147773 + 31150244 31161415 - 31138926 31150094 - 6480464 12477932;14702039;15536082;16341674;8889548 146547 B4DNP1;I3L3A6;Q5K4E3 ABBA01042079;ABBA01042080;AC009088;AI864473;AJ627034;AK075142;AK290310;AK297997;AK301409;AMYH02031843;AW450407;BC137396;BC144615;BM768465;BQ184141;BU598342;CH471192;CQ783206;NM_001258290;NM_001258291;NM_173502 AAI37397;AAI44616;BAF82999;BAG60303;BAG62942;CAF25303;CAF86411;EAW52153;EAW52154;NP_001245219;NP_001245220;NP_775773;Q5K4E3 Hs.256632 FLJ90661 polyserase 2;polyserase-2;polyserine protease 2;polyserine protease-2;serine protease 36 protein-coding ENSG00000178226 HGNC:26906 07119 610560 VALIDATED 6480139 PRSS3P1 protease, serine, 3 pseudogene 1 7 7 7 q34 137275018 137278584 + 142468264 142471830 + 142760415 142763981 + 8650574 168330 ABBA01034128;AC231380;AC245427;L36092;NG_001333 2124352 GDB:1318702 TRY5 pseudo HGNC:43787 VALIDATED 1606403 PRSS38 protease, serine, 38 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH cadmium atom; copper(2+) sulfate; diazinon 1 1 1 q42.13 201195098 201225534 + 228003418 228034171 + 227815717 227846470 + 6480464;8554872 12477932;12838346 339501 A1L453 AA398170;ABBA01005822;AL356323;AL731702;AMYH02002833;AMYH02002834;BC130400;BN000131;CH471098;NM_183062 A1L453;AAI30401;ADR82933;CAD67593;EAW69820;NP_898885 Hs.97604 1678463;1761261 RH91993;SHGC-145263 MGC163272;MPN2 OTTHUMP00000035840;marapsin 2;marapsin-2;serine protease 38;serine protease MPN2 APPROVED protein-coding ENSG00000185888 HGNC:29625 07134 VALIDATED 6480107 PRSS3P2 protease, serine, 3 pseudogene 2 Although this locus appears to encode a protein similar to trypsinogen, the locus is thought to be a transcribed pseudogene. ESTs support its transcription, but expression of its predicted protein has not been observed. Its predicted protein sequence differs significantly from the known functional trypsinogens, including a different amino acid at the conserved residue 122 which is important for autolysis. This pseudogene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008] 7 7 7 q34 137285511 137289155 + 142478757 142482400 + 773503 777146 + 10881933;11073713;11702203;15174051;17598925;8650574;9732462 154754 Q8NHM4 AC231380;BE047035;L36092;NG_001333;NR_001296 AAC80208 Hs.449281;Hs.728780 1660942;5014816 D7S2928;STS-X15505 T6;TRY6 pseudo HGNC:43788 VALIDATED 6480138 PRSS3P3 protease, serine, 3 pseudogene 3 7 7 7 q34 136764554 136768918 - 141987077 141991436 - 142287248 142291610 - 8650574 136540 ABBA01034123;AC231381;AC245088;KF454889;NG_001333;U66059 TRY3 pseudo HGNC:43790 VALIDATED 2301124 PRSS41 protease, serine, 41 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN intracellular organelle (ortholog); plasma membrane (ortholog); INTERACTS WITH paracetamol; ethanol (ortholog) 16 16 16 p13.3 3048418 3055064 + 2848486 2855133 + 2798485 2805132 + 6480464 12838346 360226 Q7RTY9 ABBA01026714;AC092117;AMYH02031274;BN000124;NM_001135086 CAD67575;NP_001128558;Q7RTY9 Hs.647401 TESSP1 TESSP-1;putative serine protease 41;testis serine protease 1;testis-specific serine protease 1 APPROVED protein-coding HGNC:30715 15488 PROVISIONAL 1602412 PRSS42 protease, serine, 42 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN germ cell development (inferred); proteolysis (inferred); spermatogenesis (inferred); FOUND IN anchored component of plasma membrane (inferred); cytoplasm (inferred); extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); pentachlorophenol (ortholog); potassium dichromate (ortholog) 3 3 3 p21.31 46810441 46814132 - 46871894 46875585 - 46830404 46834095 - 6480464 12838346;14702039 339906 C9JX34;Q7Z5A4 ABBA01024712;AC109583;AJ544583;AK092703;AMYH02006677;CH471055;NM_182702 AAI40234;CAD67566;EAW64787;EAW64788;EAW64789;NP_874361;Q7Z5A4 Hs.585127 1711352;1735156;2112558 D3S2811E;D3S4337;SHGC-89328 TESSP2 OTTHUMP00000209966;putative testis serine protease 2;serine protease 42;testis serine protease 2 APPROVED protein-coding ENSG00000178055 HGNC:30716 07156 PROVISIONAL 2801932 PRSS43 protease, serine, 43 3 3 p21.31 46733721 46736858 - 46795176 46798357 - 14702039 100288960 AC109583;AC134504;CH471055;XM_002342351;XM_003119889 EAW64785;XP_002342392;XP_003119937 FLJ35279;FLJ46533;TESSP3 protein-coding HGNC:37323 1604236 PRSS37 protease, serine, 37 ENCODES a protein that exhibits catalytic activity (inferred); serine-type endopeptidase activity (inferred); INVOLVED IN binding of sperm to zona pellucida (inferred); cell migration (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus 7 7 7 q34 136257527 136262670 - 141536078 141541332 - 141836278 141841532 - 6480464;8554872 12477932;12690205;14702039 136242 A4D1T9;B7ZMK3;F8WBF8;F8WDA6 AA628371;ABBA01034111;AC093638;AK097648;AK172866;AMYH02016923;AX247864;AX318279;BC137353;BC137354;BC144604;BC144605;CH236950;CH471070;NM_001008270;NM_001171951;XM_005249946;XM_005249947;XM_005249948 A4D1T9;AAI37354;AAI37355;AAI44606;CAC88648;CAD19358;EAL24014;EAW83985;EAW83986;EAW83987;NP_001008271;NP_001165422;XP_005250003;XP_005250004;XP_005250005 Hs.98947 TRYX2 OTTHUMP00000211631;OTTHUMP00000211634;Peptidase S1 domain-containing protein LOC136242;probable inactive serine protease 37;probable inactive trypsin-X2 APPROVED protein-coding ENSG00000165076 HGNC:29211 17297 VALIDATED 9586643 PRSS47 protease, serine, 47 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); serine-type endopeptidase activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); proteolysis (inferred); FOUND IN extracellular region (inferred) 9 9 q22.31 65375741 65389155 - 94939445 94952858 - 138652 A8MTI9 AL136097;CH471089;HY036024;XR_108978 A8MTI9;EAW62808 Hs.742918 protein-coding HGNC:37326 3184187 PRSS46 protease, serine, 46 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); INTERACTS WITH dexamethasone (ortholog) 3 3 p21.31 46761073 46777921 - 46719583 46736431 - 6480464 14702039;16344560 100287362 E5RG02 ABBA01024712;AC134504;AMYH02006673;AMYH02006674;AW183721;DB058077;DB099248;DY654973;NM_001205271 E5RG02;NP_001192200 Hs.673244 FLJ35279;FLJ40347;TESSP6 OTTHUMP00000225755;putative serine protease 46;testis serine protease 6 protein-coding ENSG00000261603 HGNC:37325 VALIDATED 1605534 PRSS48 protease, serine, 48 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH pirinixic acid (ortholog) 4 4 4 q31.3 149522657 149536992 + 152198152 152212719 + 151277173 151291453 + 6480464 12477932;12838346 345062 Q7RTY5 ABBA01070109;AC104819;AMYH02010304;BC121109;BC121110;BN000134;CH471056;NM_183375 AAI21110;AAI21111;CAD67963;EAX04985;NP_899231;Q7RTY5 Hs.651266 ESSPL OTTHUMP00000220549;OTTHUMP00000231921;epidermis-specific serine protease-like protein;serine protease 48 APPROVED protein-coding ENSG00000189099 HGNC:24635 07110 PROVISIONAL 6895556 PRSS51 protease, serine, 51 8 8 p23.1 9480982 9532298 - 10353836 10405089 - 346702 AC104964;AK307207;CH471157;XM_001721036;XM_001721174 EAW65589;XP_001721088;XP_001721226 Hs.675958 protein-coding HGNC:37321 1605685 PRSS50 protease, serine, 50 ENCODES a protein that exhibits threonine-type endopeptidase activity; INVOLVED IN proteolysis; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; endoplasmic reticulum; INTERACTS WITH alantolactone; benzo[a]pyrene (ortholog); succimer (ortholog) 3 3 3 p21.31 46692302 46698069 - 46753606 46759373 - 46712116 46717883 - 6480464;8554872 10397268;11782390;12477932;14702039;15489334;15491742;17283160;18462069;18662669;20506264;21110914;21765952;22574111 29122 B3KUP4;Q9UI38 ABBA01024712;AC134504;AF100707;AMYH02006673;BC033016;BC037775;CH471055;CQ964262;NM_013270 AAF22500;AAH33016;AAH37775;ABW03298;CAI30701;EAW64782;NP_037402;Q9UI38 Hs.120365 CT20;TSP50 OTTHUMP00000164713;OTTHUMP00000214804;cancer/testis antigen 20;probable threonine protease PRSS50;serine protease 50;testes specific protease 50;testes-specific protease 50;testis-specific protease-like protein 50 APPROVED protein-coding ENSG00000206549 HGNC:17910 06405 607950 VALIDATED 3207614 PRSS44 protease, serine, 44 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN extracellular region (inferred) 3 3 3 p21.31 46789277 46792512 - 46852688 46854048 - 46811532 46812558 - 14702039 729756 E7EML9;Q6ZR98 ABBA01024712;AC109583;AMYH02006676;CH471055;XM_003403767;XM_003959971;XM_003960329 E7EML9;EAW64786;XP_003403815;XP_003960020;XP_003960378 1738915;2182874 D3S3185;SHGC-76922 FLJ35279;FLJ46533;TESSP-4;TESSP4 OTTHUMP00000225756;serine protease 44;testis serine protease 4 protein-coding HGNC:37324 MODEL 1606871 PRSS45 protease, serine, 45 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine 3 3 3 p21.31 46722083 46724746 - 46783581 46790143 - 46742091 46744755 - 8554872 12477932;12838346 377047 E5RIY5;Q7RTY3 ABBA01024712;AC134504;AMYH02006674;AW137088;BC133695;BN000137;CH471055;NM_199183 AAI33696;CAD68171;EAW64784;NP_954652;Q7RTY3 Hs.667712 TESSP5 OTTHUMP00000214814;putative testis serine protease 5;serine protease 45;testis serine protease 5 APPROVED protein-coding ENSG00000188086 HGNC:30717 07157 VALIDATED 2860194 PRSS53 protease, serine, 53 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH lead(0); lead(2+); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p11.2 29197373 29202758 + 31094745 31100289 - 31083424 31088809 - 6480464 12975309;16566820;20953189;22451204 339105 Q2L4Q9 ABBA01042077;AC135050;AJ627035;AK131087;AMYH02031842;NM_001039503;XM_005255294 AAI72247;AAI72552;BAC85137;CAF25304;NP_001034592;Q2L4Q9;XP_005255351 Hs.569575 1678389;1737551;1737575 D16S2660;D16S2666;RH91770 FLJ00289;POL3S;UNQ308 EDTP308;OTTHUMP00000045060;polyserase 3;polyserase-3;polyserine protease 3;serine protease 53 protein-coding ENSG00000151006 HGNC:34407 610561 VALIDATED 1342482 PRSS57 protease, serine, 57 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH bis(2-ethylhexyl) phthalate (ortholog); bisphenol A (ortholog); cadmium dichloride (ortholog) 19 19 19 p13.3 120996 132062 + 685546 695462 - 685546 695461 - 6480464 12477932;12975309;18029348;9533035 400668 Q6UWY2 ABBA01002580;ABBA01002581;AC004156;AC112708;AMYH02035120;AY358594;BC137161;BC144505;NM_214710 AAI37162;AAI44506;AAQ88957;NP_999875;Q6UWY2 Hs.245146 2153441 RH11517 PRSSL1;UNQ782 GLGL782;protease, serine-like 1;serine protease 1-like protein 1;serine protease 57 APPROVED protein-coding ENSG00000185198 HGNC:31397 17916 VALIDATED 6896923 PRSS52P protease, serine, 52, pseudogene 8 8 8 9459512 9483393 - 10332392 10356247 - 10474882 10498737 - 23251661 100419209 ABBA01026890;AC104964;AMYH02017428;NG_025997 pseudo HGNC:37322 INFERRED 3438752 PRSS54 protease, serine, 54 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN cytoplasm 16 16 16 q21 42813348 42828405 - 58313901 58328951 - 58279997 58295047 - 12477932;17521433;18029348 221191 F5H6C6;H3BNY0;H3BQS7;Q6PEW0 ABBA01025300;AC009107;AK058068;AK302175;AL137484;AMYH02032117;BC057843;CH471092;NM_001080492;XM_005255838;XM_005255839 AAH57843;BAB71649;BAG63541;CAB70765;EAW82972;NP_001073961;Q6PEW0;XP_005255895;XP_005255896 Hs.411239 1684995;1700190;2119570 RH103710;RH69554;RH98341 CT67;FLJ25339;KLKBL4 cancer/testis antigen 67;inactive serine protease 54;plasma kallikrein-like protein 4 protein-coding ENSG00000103023 HGNC:26336 PROVISIONAL 5128927 PRSS56 protease, serine, 56 This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011] 2 2 2 q37.1 227149624 227154738 + 233385173 233390426 + 232520463 232525716 + 7240710;8554872;8699517 15146197;21397065;21532570;21850159;21963094;23127749;23396134;23820083;24227917 646960 P0CW18;R4GMZ0 ABBA01002018;AC092165;AMYH02005988;BI464671;CH471063;CN280933;NG_031969;NM_001195129 EAW71002;NP_001182058;P0CW18 Hs.570310 MCOP6 putative serine protease 56;serine protease 56;trypsin serine protease-like APPROVED protein-coding ENSG00000237412 HGNC:39433 613517;613858 REVIEWED 1347991 PRTH pituitary resistance to thyroid hormone ASSOCIATED WITH Thyroid Hormone Resistance, Generalized, Autosomal Dominant (inferred); Thyroid Hormone Resistance, Generalized, Autosomal Recessive (inferred); Thyroid Hormone Resistance, Selective Pituitary (inferred) 7240710 5656 HGNC:9494 145650;188570;274300 1603165 PRSS55 protease, serine, 55 This gene encodes a member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 8 8 8 p23.1 9510226 9523469 + 10383030 10411676 + 10525520 10554166 + 6480464 12477932;12975309;18844450;23251661;23436708 203074 H0YBF5;Q6UWB4 ABBA01026890;AC104964;AMYH02017428;AY358867;BC033497;BC064412;CH471157;HC007376;NG_027783;NM_001197020;NM_198464;XM_005272372;XM_006716246 AAH64412;AAQ89226;CBH19493;EAW65590;NP_001183949;NP_940866;Q6UWB4;XP_005272429;XP_006716309 Hs.591394 CT153;T-SP1;TSP1;UNQ9391 OTTHUMP00000159699;OTTHUMP00000224977;probable serine protease UNQ9391/PRO34284;serine protease 55;testis serine protease 1;tryptophan/serine protease APPROVED protein-coding ENSG00000184647 HGNC:30824 07162 615144 REVIEWED 1320925 PRTFDC1 phosphoribosyl transferase domain containing 1 ENCODES a protein that exhibits protein homodimerization activity; INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; arsenite(3-) 10 10 10 p12.1 24838423 24942409 - 25137536 25242680 - 24848607 24953782 - 6480464 12477932;14702039;16189514;16928426;17207965;17599052;21054786;21139048;21818316;21890473;21963094;22939629;23251661;23934736;8125298 56952 Q9NRG1 AB209792;ABBA01034438;ABBA01034439;ABBA01034440;AF226056;AK021950;AK222674;AK294130;AK309614;AL157385;AL512598;AMYH02022478;AMYH02022479;BC008662;BQ003226;BX471710;CH471072;NM_001282786;NM_020200;XM_005252537;XM_005252538;XM_006717479;XM_006717480 AAF86956;AAH08662;ADQ31607;BAB13944;BAD93029;BAD96394;BAH11679;EAW86119;EAW86120;EAW86121;NP_001269715;NP_064585;Q9NRG1;XP_005252594;XP_005252595;XP_006717542;XP_006717543 Hs.405619 1653521;1739759;1776198;1782140;1782166;1858315;2107529 D10S1619E;PRTFDC1__6941;SHGC-155382;SHGC-155737;STS-AA007506;STS-AA016259;WI-13718 FLJ11888;HHGP OTTHUMP00000019330;OTTHUMP00000019332;phosphoribosyltransferase domain-containing protein 1 protein-coding ENSG00000099256 HGNC:23333 17917 610751 VALIDATED 1606409 PRTG protogenin INVOLVED IN multicellular organismal development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH perfluorooctanoic acid; trichostatin A; valproic acid 15 15 15 q21.3 32792252 32923660 - 55903738 56035847 - 55611540 55743649 - 6480464;8554872 12477932;14702039;15922677;19076634;21963094;23648065;24007463 283659 H0YKD6;H0YLD1;H0YLT7;Q2VWP7 AA912476;ABBA01039017;ABBA01039018;ABBA01039019;AC009997;AC012378;AK022857;AK023283;AK098622;AMYH02030492;AMYH02030493;AMYH02030494;AY630258;BC073967;CH471082;NM_173814;XM_005254310;XM_005254311;XM_006720473;XR_429451 AAI40401;AAU05741;BAC05355;EAW77493;EAW77494;NP_776175;Q2VWP7;XP_005254367;XP_005254368;XP_006720536 Hs.130957 1341738;1680966;1707342;1720417;1771486;1780514;2110919 D15S1029;D15S167E;D15S958;G59011;RH99079;SHGC-79292;bac5082T FLJ12795;FLJ13221;FLJ25756;IGDCC5 Shen-Dan;immunoglobulin superfamily, DCC subclass, member 5;protogenin homolog (Gallus gallus) APPROVED protein-coding ENSG00000166450 HGNC:26373 18765 613261 VALIDATED 5129391 PRUNEP1 prune exopolyphosphatase pseudogene 1 13 13 13 q12.13 7758185 7761360 - 26689950 26693125 - 26115812 26118987 - 100129595 ABBA01007912;AL138966;AMYH02027728;NG_011454 1739257;1756479;1782818;2155718 D13S1121;RH45794;SHGC-111341;SHGC-143487 APPROVED pseudo HGNC:39723 INFERRED 1350944 PRUNE prune exopolyphosphatase ENCODES a protein that exhibits inorganic diphosphatase activity (inferred); metal ion binding (inferred); pyrophosphatase activity (inferred); INVOLVED IN metabolic process (inferred); PARTICIPATES IN purine metabolic pathway; FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; benzene-1,2,4-triol 1 1 1 q21 124096668 124123871 + 150980867 151008189 + 151008391 151035713 + 6480464;6907045 10524757;10602478;11687967;12477932;15671547;16428445;17655525;18029348;18700747;18978678;19322201;20383146;20735841;21139048;23448979;23455922;23585552 58497 Q5SZF2;Q5SZG1;Q86TP1 ABBA01049365;ABBA01049366;ABBA01049367;AF051907;AF123538;AF123539;AK027875;AK294154;AK298273;AK315120;AK316537;AL122054;AL137324;AL590133;AMYH02001869;BC014886;BC017755;BC025304;BC063481;CH471121;NM_021222;U67085;XM_005245393;XM_005245394;XM_005245396;XM_005245397 AAC95290;AAF04914;AAH14886;AAH25304;AAH63481;AAK00592;AAK00593;ABM83745;ABM87064;BAB55423;BAG37575;BAG57478;BAG60534;BAH14908;CAH56396;EAW53485;EAW53486;EAW53487;EAW53488;EAW53489;EAW53490;NP_067045;Q86TP1;XP_005245450;XP_005245451;XP_005245453;XP_005245454 Hs.78524 1701632;1735380;2170512;2187329 A004A12;D1S1855E;D1S2426;RH104459 DRES-17;DRES17;HTCD37 Drosophila-related expressed sequence 17;OTTHUMP00000033020;hPrune;prune homolog APPROVED protein-coding ENSG00000143363 HGNC:13420 15188 PROVISIONAL 1322392 PRUNE2 prune homolog 2 (Drosophila) ENCODES a protein that exhibits metal ion binding (inferred); pyrophosphatase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 9 9 9 q21.2 49801128 50095673 - 79226292 79521136 - 76611376 76906220 - 737633;6480464;8554872 12477932 11181995;12168954;15164053;15489334;16189514;16288218;16344560;17081983;17360660;17961507;18029348;18445682;19319183;19668339;19760627;20379614;20800603;21139048;21234814;22863883;22967466;23059019;23503679;24040105;9205841 158471 B4DJW7;B4DSQ3;E9PDC2;H7BZH9;Q5JUB8;Q5JUB9;Q8WUY3;X6R9J3 AB002365;AB050197;AB535152;ABBA01033912;ABBA01033913;ABBA01033914;AK296269;AK298805;AK299857;AL161626;AL359314;AL390239;AL834213;AMYH02021023;AMYH02021024;AMYH02021025;AMYH02021026;AMYH02021027;AMYH02021028;AY439213;AY439214;BC019095;BC022571;BC150641;BQ008420;CH471089;DA410068;FJ808772;FJ808773;KF458927;NM_015225;XM_005251745;XM_005251746;XM_005251748;XM_005251750;XM_005251751;XM_005251752;XM_005251753;XM_005251754;XM_006716982;XM_006716983;XM_006716984;XM_006716985;XM_006716986;XM_006716987;XR_242571;XR_428517;XR_428518 AAH22571;AAI50642;AAR15150;AAR15151;ACY78253;ACY78254;ADZ15940;BAA20822;BAD93351;BAG58979;BAG60940;BAG61715;BAJ08045;EAW62581;EAW62582;EAW62583;EAW62584;EAW62585;EAW62586;EAW62587;EAW62588;EAW62594;NP_056040;Q8WUY3;XP_005251802;XP_005251803;XP_005251805;XP_005251807;XP_005251808;XP_005251809;XP_005251810;XP_005251811;XP_006717045;XP_006717046;XP_006717047;XP_006717048;XP_006717049;XP_006717050 Hs.262857 1337556;1341773;1656352;1664177;1695808;1716251;1717759;1752323;1756411;2115074;2149893;2185014;2185385;5092718;5093914 A005S17;A009Y46;AFM207vb8;D9S1834;D9S1860;D9S2090;G32285;G32998;RH121153;RH121787;RH66281;RH68047;SHGC-106287;SHGC-143385;SHGC-82569 A214N16.3;BMCC1;BNIPXL;C9orf65;DKFZp762K117;FLJ50060;FLJ54876;FLJ59118;KIAA0367;RP11-58J3.2;bA214N16.3 BCH motif-containing molecule at the carboxyl terminal region 1;BNIP2 motif containing molecule at the carboxyl terminal region 1;BNIP2 motif-containing molecule at the C-terminal region 1;OTTHUMP00000021503;olfaxin;protein prune homolog 2;truncated PRUNE2 protein-coding ENSG00000106772 HGNC:25209 12970 610691 VALIDATED 1348546 PRY PTPN13-like, Y-linked This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8821100 8845342 - 24636544 24660784 + 22490397 22514637 + 6480464 11420382;12477932;12815422;15177557;15489334;20301513;9381176 9081 O14603 ABBA01018411;AC008175;AF000988;AF517635;BC113548;BC113550;BC143893;BC171757;NG_004755;NG_032916;NM_004676 AAC51835;AAI13549;AAI13551;AAI43894;AAI71757;AAN06674;NP_004667;O14603 Hs.158343 2146312;2187995;2187997;5021846;5107375 G34984;G65848;G66147;G66148;sY2986 PRY1;PRY2;PRYP3;PRYP4;PTPN13LY OTTHUMP00000040742;PTPN13-like protein, Y-linked;testis-specific PTP-BL-related Y protein;testis-specific PTP-BL-related protein on Y APPROVED protein-coding ENSG00000169789 HGNC:14024 02460 400019 REVIEWED 730925 PRSS8 protease, serine, 8 This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. The proprotein is cleaved to produce a light chain and a heavy chain which are associated by a disulfide bond. It is active on peptide linkages involving the carboxyl group of lysine or arginine. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 29150870 29155267 + 31142754 31147151 - 31131433 31135830 - 1580863;2292484;2292485;2292487;2292486;6480464 11173941;11584061;11774283;12518323 10077646;11274175;11756432;12477932;12626364;15231748;15246975;15474520;15489334;16061697;16103126;16502470;16541421;17145811;17532063;17940283;18310226;18583984;18922802;19056867;19127211;19262497;19388054;19555470;19606239;19847458;19849847;19911255;20078940;20089521;20204133;20696767;21148558;21678412;21933610;22582115;23344129;23443662;23673661;23707658;24434518;7768952;8034638;8838796 5652 H3BUJ8;H3BVC8;Q16651 ABBA01042079;AC009088;AK296656;AK301619;AMYH02031843;BC001462;CH471192;L41351;NM_002773;U33446 AAB19071;AAC41759;AAH01462;ABM83086;ABM86280;BAG59253;BAG63104;EAW52155;EAW52156;NP_002764;Q16651 Hs.75799 1668242;1691078 D16S3336;RH69053 CAP1 channel-activating protease 1;prostasin;protease, serine, 8 (prostasin);serine protease 8 APPROVED protein-coding ENSG00000052344 HGNC:9491 02895 600823 REVIEWED 1312601 PRTN3 proteinase 3 ENCODES a protein that exhibits enzyme binding; INVOLVED IN mature dendritic cell differentiation; negative regulation of phagocytosis; FOUND IN cytosol; extracellular matrix; extracellular space; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; atrazine 19 19 19 p13.3 766135 773326 + 840985 848175 + 840985 848175 + 1580863;6480464 10339575;10498622;10512713;10978167;11115080;11389039;11714826;11867344;12010574;12067299;12114510;12135665;12140766;12189154;12191967;12200377;12354776;12393722;12444202;12477932;12506139;12538645;12832446;12894870;12960243;1400430;14525959;14675038;15057824;1518849;15331626;15489334;15527767;15686586;15879139;15916759;15975933;16167885;16263417;16478888;16488976;16502470;16598772;16792675;1681549;1688612;17088257;17158864;17244676;17412886;17452051;17534941;17634439;17681950;17712045;17785293;18023421;18029348;18076025;18596726;18854317;19056867;19185066;19447886;19490915;19494315;19913121;2001463;20059480;20155833;2033050;20412702;20412704;20423453;20491791;20530264;20592714;20628086;20828556;21193404;21193407;2121162;21470489;21700341;22138257;22210048;22266279;22270365;2242436;22510451;2258701;22791638;22844112;2285532;22936713;22952809;23202369;23380137;2377228;23957616;2404977;24052258;24271323;24291125;2501794;2598267;2679910;3513185;7654387;8261669;8629812;8738804;8757293;9924693 5657 P24158;U3KPS2 ABBA01002603;ABBA01002604;AC004799;AC212840;AMYH02035125;BC096183;BC096184;BC096185;BC096186;CH471139;FN647680;KF456467;M29142;M75154;M96628;NM_002777;X55668;X56132;X56606 AAA36342;AAA59558;AAB59364;AAH96183;AAH96184;AAH96185;AAH96186;CAA39203;CAA39597;CAA39598;CAA39943;CBI83574;EAW69590;EAW69591;NP_002768;P24158 Hs.928 2131165;5120335 GDB:278196;SGC35286 ACPA;AGP7;C-ANCA;MBN;MBT;NP-4;NP4;P29;PR-3;PR3 C-ANCA antigen;CANCA;Wegener granulomatosis autoantigen;azurophil granule protein 7;leukocyte proteinase 3;myeloblastin;neutrophil proteinase 4;serine proteinase, neutrophil;wegener autoantigen protein-coding ENSG00000196415 HGNC:9495 01512 177020 VALIDATED 2291812 PRYP1 PTPN13-like, Y-linked pseudogene 1 Y Y q11.221 19841679 19856420 - 17729799 17744540 - 12815422 442863 AC007742;NG_004636 PRY4P;PRYP7 pseudo HGNC:34018 VALIDATED 2291811 PRYP2 PTPN13-like, Y-linked pseudogene 2 Y Y q11.221 20323250 20338937 + 18161364 18177051 + 12815422 442864 AC024183;NG_004636 5021800 sY2833 pseudo HGNC:34019 VALIDATED 2291810 PRYP3 PTPN13-like, Y-linked pseudogene 3 Y Y q11.223 25827487 25840828 - 23681340 23694681 - 12815422;15489334;9381176 442865 AC016752;NG_004755 O14603 pseudo HGNC:34020 VALIDATED 1606966 PRSS58 protease, serine, 58 This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq, Jul 2008] 7 7 7 q34 136729455 136735370 - 141951958 141957878 - 142252138 142258058 - 6480464;8554872 12477932;12690205;12975309;14702039;16751668;8650574 136541 Q8IYP2 AA625766;ABBA01034123;AC231381;AC245088;AK122940;AY358487;BC035384;CH236959;CH471198;DQ384426;DQ384427;DQ384428;DQ384429;DQ384431;NG_001333;NM_001001317 AAH35384;AAQ88851;ABD48876;ABD48877;ABD48878;ABD48879;ABD48880;BAG53808;EAL23772;EAW51980;EAW51981;NP_001001317;Q8IYP2 Hs.98609 1683954 RH92570 FLJ16649;MGC35022;PRSS1;TRY1;TRYX3;UNQ2540 OTTHUMP00000213085;OTTHUMP00000213086;serine protease 58;trypsin X3;trypsin-X3 APPROVED protein-coding ENSG00000258223 HGNC:39125 15572 REVIEWED 4110642 PRYP7 PTPN13-like, Y-linked pseudogene 7 100419333 AC007742;NG_024772 PRY4P pseudo HGNC:38417 2291809 PRYP4 PTPN13-like, Y-linked pseudogene 4 Y Y q11.223 28121542 28134883 + 25975395 25988736 + 12815422;17207965 442866 AC007965;NG_004755 ADR82828;O14603 pseudo HGNC:34021 VALIDATED 1349286 PRY2 PTPN13-like, Y-linked 2 This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8821100 8845342 - 24217903 24242154 - 22071756 22096007 - 12815422;15177557;15489334;20301513;9381176 442862 O14603 ABBA01005818;AC007359;CH878735;NG_004755;NG_032918;NM_001002758 AAI48537;AAI53129;EAW61212;NP_001002758;O14603 Hs.632847 2146312;2187995;2187997;5021846;5107375 G34984;G65848;G66147;G66148;sY2986 PRY;PRYP3;PRYP4;PTPN13LY;PTPN13LY2 OTTHUMP00000040528;PTPN13-like protein, Y-linked;PTPN13-like, Y-linked, centromeric;testis-specific PTP-BL-related Y protein;testis-specific PTP-BL-related protein on Y APPROVED protein-coding ENSG00000169807 HGNC:21504 11851 400041 REVIEWED 1603414 PSAPL1 prosaposin-like 1 (gene/pseudogene) INVOLVED IN sphingolipid metabolic process (inferred); FOUND IN extracellular region (inferred); lysosome (inferred); INTERACTS WITH benzo[a]pyrene; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 p16.1 7337125 7341805 - 7432021 7436700 - 7430294 7434973 - 6480464 12477932;14702039;15489334;9847074 768239 Q6NUJ1 ABBA01012747;AC080003;AK097698;AMYH02008684;BC034552;BC048325;BC063708;BC068579;DQ991252;FJ695208;NM_001085382 AAH68579;ABJ55983;BAC05143;NP_001078851;Q6NUJ1 Hs.662523 FLJ40379 OTTHUMP00000217346;proactivator polypeptide-like 1;prosaposin-like protein 1 APPROVED protein-coding HGNC:33131 VALIDATED 2303687 PSAT1P1 phosphoserine aminotransferase 1 pseudogene 1 INTERACTS WITH cyclosporin A 8 8 8 q11.21 46641904 46644097 - 50651756 50653966 - 49739196 49741406 - 6480464 21963094 137133 ABBA01041671;AC113145;AMYH02017952;NG_009632 C8orf62 APPROVED pseudo HGNC:15785 INFERRED 6484015 PSAT1P3 phosphoserine aminotransferase 1 pseudogene 3 1 1 1 p31.1 77760236 77761343 - 79520633 79521740 - 79054948 79056055 - 729779 ABBA01074382;AC093430;AC098651;AMYH02001322;NG_022726 1692924 AL034174 pseudo HGNC:43989 INFERRED 6484034 PSAT1P4 phosphoserine aminotransferase 1 pseudogene 4 3 3 3 q26.1 164808658 164809184 + 166408976 166409502 + 166691188 166691714 + 100287630 ABBA01058738;AC072046;AMYH02008080;NG_022280 pseudo HGNC:43990 INFERRED 1345904 PSBP1 prostatic steroid binding protein 1 5661 HGNC:9499 731880 PSCD2L pleckstrin homology, Sec7 and coiled/coil domains 3 1580863 9925920 9224 Q15795 U59752 HGNC:9503 606507 1321185 PSCA prostate stem cell antigen This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 8 8 8 q24.2 140062953 140075307 + 143751726 143764145 + 142670308 142682727 + 1580863;6480464 10713670;10973799;11406532;11752398;11980648;12351697;12477932;12496358;12975309;14702039;15340161;15489334;15765097;15814638;16015594;16024997;16341674;16957968;17207965;17255364;17492652;17503471;17549363;17853904;18076024;18184265;18440837;18488030;18838214;19180924;19343734;19462463;19554573;19582881;19648920;19822092;19861285;20039280;20043108;20082273;20083643;20085909;20131315;20230293;20374648;20501618;20502058;20507324;20955382;20972438;21064099;21070776;21070779;21268123;21429770;21497359;21503583;21538581;21600799;21681742;21748756;21914346;21936014;22155405;22387998;22416122;22426141;22481254;22502712;22536409;22778595;22796266;22824379;22938426;22938475;23391636;23704932;23984394;23988503;24023815;24146278;24163127;24183365;24308679;24320701;24438073;24654646;9465086 8000 D3DWI6;H0YAA6;O43653 ABBA01005289;AC108002;AF043498;AI685668;AJ297436;AMYH02018926;AY358912;BC023582;BC048808;BC065183;BI758811;BM768967;BU157227;CB993163;CH471162;CS448246;JB238365;JB315133;KC877375;NG_011722;NM_005672;NR_033343 AAC39607;AAH23582;AAH65183;AAQ89271;ADQ32138;CAB97347;CAL69804;CDH61610;CDH92562;EAW82312;EAW82313;NP_005663;O43653 Hs.652235 1336478;2107531;5111610 D8S1836;PSCA__6943;RH80181 PRO232 OTTHUMP00000221185 APPROVED protein-coding ENSG00000167653 HGNC:9500 03919 602470 REVIEWED 1607031 PSAT1 phosphoserine aminotransferase 1 This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013] 9 9 9 q21.2 51489329 51522284 + 80911991 80945009 + 78297075 78330093 + 6480464;6907045;7240710;8554872;8699517 10637769;12477932;12633500;15489334;16196087;16263121;17436247;18221502;18781797;19056867;20639865;20955740;20972266;21139048;21319273;21832049;21890473;21900206;21906983;21963094;21988832;22053931;22190034;22360420;22505724;22589738;22863883;22939629;23000965;23166591;23251661;23824909;23862649;24654937;24816145;3651428 29968 Q9Y617 ABBA01033944;ABBA01033945;AF113132;AK025460;AK295222;AK295310;AL353594;AMYH02021049;AMYH02021050;AY131232;BC000971;BC004863;BC016645;BC018129;BT006840;CH471089;DC300904;DC332195;NG_012165;NM_021154;NM_058179 AAD42052;AAH00971;AAH04863;AAH16645;AAH18129;AAN71736;AAP35486;ABM85052;BAG58215;BAG58289;EAW62617;EAW62618;EAW62619;EAW62620;EAW62621;EAW62622;EAW62623;NP_066977;NP_478059;Q9Y617 Hs.494261 1664263;1689123;1689749 G19639;RH66326;RH66846 EPIP;MGC1460;NLS2;PSA;PSAT;PSATD OTTHUMP00000021524;OTTHUMP00000021525;endometrial progesterone-induced protein;phosphohydroxythreonine aminotransferase;phosphoserine aminotransferase APPROVED protein-coding ENSG00000135069 HGNC:19129 17918 610936;610992;616038 REVIEWED 1322340 PSD2 pleckstrin and Sec7 domain containing 2 ENCODES a protein that exhibits phospholipid binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF protein signal transduction (inferred); PARTICIPATES IN endocytosis pathway; FOUND IN dendrite (inferred); integral component of membrane (inferred); neuronal cell body (inferred); INTERACTS WITH phenobarbital; N-nitrosomorpholine (ortholog); trimellitic anhydride (ortholog) 5 5 5 q31.2 135250835 135299476 + 139175406 139224051 + 139795821 139844466 + 1580863;6480464;6907045 11076863;11230166;11256614;12477932;15489336;16381901;17148452 84249 Q9BQI7 ABBA01026443;ABBA01026444;AC008667;AL136559;AL834268;AMYH02012324;BC038233;CH471062;KF458013;KF458014;KF458018;NM_032289;XM_006714801 AAH38233;CAB66494;CAD38943;CAL38743;EAW62088;EAW62089;NP_115665;Q9BQI7;XP_006714864 Hs.21963 1735536;1735556;1740353;1740411;1849570;2136749 A008W02;D5S1667E;D5S1677E;D5S2186E;D5S2224E;D5S2431 DKFZp761B0514 6330404E20Rik;OTTHUMP00000159545;PH and SEC7 domain-containing protein 2;pleckstrin homology and SEC7 domain-containing protein 2 protein-coding ENSG00000146005 HGNC:19092 15190 PROVISIONAL 733797 PSD pleckstrin and Sec7 domain containing This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 10 10 10 q24 97903264 97919799 - 104162374 104179691 - 102402617 102419934 - 6480464;6907045;8554872 10075920;11210544;11535619;12477932;15540117;16169070;16178029;16291863;16385451;16452216;16807779;17579087;17640372;17846866;17850229;18323689;18490450;19494129;19773279;22002136;22179719;23535732;23603394;9417912 5662 A5PKW4;Q86YI3 AB095931;ABBA01063159;AF452641;AI936992;AL121928;AMYH02023695;BC037332;BC039259;BC142643;BC142689;BM920983;CH471066;DB505450;NM_001270965;NM_001270966;NM_002779;NR_073110 A5PKW4;AAH39259;AAI42644;AAI42690;AAP97695;BAC23107;EAW49693;EAW49694;EAW49695;NP_001257894;NP_001257895;NP_002770 Hs.154658;Hs.743732 1651721;1736140;1745959;2113950;2159899 A007E10;AB055379;AI426354;D10S1397E;RH78118 EFA6;EFA6A;KIAA2011;PSD1;TYL OTTHUMP00000020364;PH and SEC7 domain-containing protein 1;exchange factor for ARF6;pleckstrin and Sec7 domain protein;pleckstrin homology and SEC7 domain-containing protein 1;pleckstrin-Sec7 domains-containing APPROVED protein-coding ENSG00000059915 HGNC:9507 09085 602327 REVIEWED 1351983 PRX periaxin This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 37699214 37718819 - 40899671 40919279 - 40393764 40413372 - 1580863;6480464;7240710;8554872;8699517 10671475;10839370;10848494;10997877;11133365;11157804;11430802;11835375;12107413;12112076;12477932;14625392;15197604;15489334;16534116;16770524;17081983;17474147;18029348;18504680;19837996;19950375;20301532;20301641;21044950;21079185;21741241;22094256;22847150;24011642;9143514 57716 Q9BXM0 AB046840;ABBA01040755;ABBA01040756;ABBA01040757;AC010271;AF321191;AF321192;AMYH02036112;AMYH02036113;BC067266;CD674402;CH471126;NG_007979;NM_020956;NM_181882;XM_005259111 AAH67266;AAK19279;AAK19280;BAB13446;EAW56962;EAW56963;NP_066007;NP_870998;Q9BXM0;XP_005259168 Hs.205457 CMT4F;KIAA1620 APPROVED protein-coding ENSG00000105227 HGNC:13797 05758 145900;605725;614895 REVIEWED 1603689 PSD3 pleckstrin and Sec7 domain containing 3 ENCODES a protein that exhibits ARF guanyl-nucleotide exchange factor activity (inferred); phospholipid binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF protein signal transduction (inferred); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane (inferred); postsynaptic membrane (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl 8 8 8 p21.3 17351147 17835744 - 18384813 18871196 - 18527303 19013686 - 6480464;6907045;8554872 10231032;12097419;12168954;12477932;14702039;15489334;16196087;16270321;16344560;17148452;18649358;20080650;20379614;20736409;21275903;21507922;23000965;23251661;23776197;24023788 23362 B3KRC4;B4DKF8;E5RFG7;E5RH02;E5RIH3;E5RJ29;E5RJE4;H0YAQ7;H0YC20;J3KQK0;Q9NYI0 AB023159;ABBA01021569;ABBA01021570;ABBA01021571;AC009884;AC087821;AC090420;AC100800;AC120051;AF243495;AF519767;AK091317;AK296546;AK313826;AK315099;AL353936;AL599849;AL832778;AMYH02017545;AMYH02017546;AMYH02017547;AMYH02017548;AMYH02017549;AMYH02017550;AMYH02017551;AMYH02017552;BC011238;BC045112;BC075044;BC075045;BX647320;BX647406;CH471080;CS185565;DB055312;GU727648;NM_015310;NM_206909;XM_005273461;XM_006716318;XM_006716319;XM_006716320;XM_006716321;XM_006716322 AAF61269;AAH11238;AAH75044;AAH75045;AAM74203;ACE86807;ACE86812;ACE87494;ACE87499;ADU87649;BAA76786;BAG36561;BAG52336;BAG59170;CAI46004;CAJ42746;EAW63779;EAW63780;EAW63781;EAW63782;EAW63783;EAW63784;NP_056125;NP_996792;Q9NYI0;XP_005273518;XP_006716381;XP_006716382;XP_006716383;XP_006716384;XP_006716385 Hs.434255 1650315;1651646;1655217;1655219;1676210;1677202;1706554;1714809;1727535;1728577;1730759;1749919;1750115;1767351;1774314;1836908;1856889;2113884;2162865;2177461;2181093;2182672;2183356;2186808 A005X11;A009G21;AB056822;CHLC.GGAT12E04;D8S1591;D8S1900;D8S297E;ECD19618;G17274;G19219;G20566;G63025;G63580;RH120071;RH35906;RH47419;RH80712;RH98309;SHGC-111637;SHGC-112344;SHGC-24261;SHGC-56755;SHGC-81254;STS-N25188 DKFZp761K1423;EFA6R;HCA67 ADP-ribosylation factor guanine nucleotide factor 6;OTTHUMP00000224594;OTTHUMP00000224595;OTTHUMP00000224597;PH and SEC7 domain-containing protein 3;epididymis tissue protein Li 20mP;exchange factor for ADP-ribosylation factor guanine nucleotide factor 6;hepatocellular carcinoma-associated antigen 67;pleckstrin homology and SEC7 domain-containing protein 3 protein-coding ENSG00000156011 HGNC:19093 11462 614440 VALIDATED 1347919 PSENEN presenilin enhancer gamma secretase subunit Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 19 19 19 q13.12 32949971 32951380 + 36236478 36238056 + 35745577 35747155 + 2302204;6480464;6484113;6907045;7240710;8699517;8554872 17761886 12110170;12198112;12477932;12522139;12639958;12660785;12679784;12740439;12763021;12787561;12843241;14572442;15274632;15322084;15322109;15474363;15489334;15721744;15953349;15975090;16234243;16234244;16331303;16449647;16630834;16641999;16712791;17280645;17668005;17986144;19036728;19889971;20178366;20534834;20847418;20929727;21412258;21454611;21852538;21988832;22479317;22622421;22689582;22771797;22787762;23096707;23134962;23246698;23685131;24250222 55851 K7ES79;Q9NZ42 ABBA01018763;AD000671;AF220053;AK312233;AMYH02035990;BC009575;BE563017;BQ222622;BU934029;CB136623;NG_027934;NM_001281532;NM_172341 AAF67646;AAH09575;ABM84021;ABM87367;BAG35166;NP_001268461;NP_758844;Q9NZ42 Hs.534465 1680268;1683303 RH91910;RH99245 MDS033;MSTP064;PEN-2;PEN2 gamma-secretase subunit PEN-2;hematopoietic stem/progenitor cells protein MDS033;presenilin enhancer 2 homolog;presenilin enhancer protein 2 APPROVED protein-coding HGNC:30100 06362 607632;613736 REVIEWED 736284 PSAP prosaposin This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 10 10 10 q21-q22 66858625 66893657 - 73576055 73611082 - 71816298 71851325 - 1580863;6480464;7240710;8554872;8699517 10406958;10510427;10562467;10682309;11180632;11231313;11309366;11313879;11734895;11856752;12083803;12477932;12510003;12518053;12813057;1371116;1454804;14630798;14674747;14716313;15047825;15231748;15305334;15489334;15548330;15606899;15897971;16080200;1612590;16169070;16199891;16385451;16502470;16713569;16823039;17044040;17110338;17171640;17300216;17372201;17561962;17712477;17893707;17961073;18029348;18481277;18761669;19056867;19224915;19267410;19471889;19581582;1958198;20132547;2013321;2019586;2025281;20379614;20484222;2060627;2066109;21139048;21328455;21555518;21743296;21856303;21900206;21906983;21943334;2209618;22268729;22738294;22863883;22939629;22990118;2302219;23022198;2320574;23417432;23829686;24070323;24250222;24501781;24657443;24872419;2498298;2515150;2717620;2825202;2842863;2845979;2868718;3048308;3242555;3442600;3478817;6256275;7613473;7730378;7866401;8125298;8323276;8370464;8554069;8641138;9751800 5660 B1AVU8;C9JIZ6;P07602 AB209776;ABBA01020372;ABBA01020373;AC073370;AF057307;AF307850;AK057878;AK129790;AK223290;AK293672;AK299184;AK307721;AL731541;AMYH02023302;BC001503;BC004275;BC007612;BC091483;BT006849;CH471083;CR456746;D00422;J03015;J03077;M12710;M32221;M60255;M60257;M60258;M81355;M86181;NG_009301;NM_001042465;NM_001042466;NM_002778;X57107;X57108 AAA36594;AAA36595;AAA36596;AAA52560;AAA60303;AAB59494;AAC64921;AAG31635;AAH01503;AAH04275;AAH07612;AAH91483;AAP35495;ABM83935;ABM87254;BAA00321;BAD93013;BAD97010;BAG57116;BAG61229;CAA40391;CAA40392;CAG33027;EAW54436;EAW54437;EAW54438;NP_001035930;NP_001035931;NP_002769;P07602 Hs.523004 1647953;1716917;1736018;1736022;1736026;1857086;2133404;2151661;2181183 D10S1299E;D10S1301E;D10S1303E;D10S2162;RH11184;RH121750;RH41802;RH68874;STS-J03077 FLJ00245;GLBA;MGC110993;SAP1 OTTHUMP00000019776;OTTHUMP00000019777;proactivator polypeptide;prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy);sphingolipid activator protein-1 APPROVED protein-coding ENSG00000197746 HGNC:9498 01460 176801;249900;610539;611721;611722 REVIEWED 1321104 PSD4 pleckstrin and Sec7 domain containing 4 ENCODES a protein that exhibits phospholipid binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF protein signal transduction (inferred); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH benzo[a]pyrene; ciglitazone; cyclosporin A 2 2 2 q13 107316145 107345262 + 113914976 113960677 + 113157399 113203100 + 1580863;6480464;6907045;8554872 11050434;12082148;12477932;14702039;15489334;15815621;18084281;19946888;20339350;8889548 23550 B8ZZZ5;H7BZ06;Q8NDX1 AA429250;AB208798;ABBA01074243;AC016683;AC024704;AJ459781;AK023421;AK093556;AK094598;AK290045;AK294268;AMYH02004595;BC035307;BC073151;BM930990;BQ061445;BU947428;CH471217;DQ452296;NM_012455;U63127;XM_005263634;XM_006712392;XM_006712393;XM_006712394 AAD00107;AAH35307;AAH73151;AAX88879;ABD96831;ABW03422;BAD92035;BAF82734;BAG51189;BAG57560;CAD30842;EAW73626;EAW73627;EAW73628;NP_036587;Q8NDX1;XP_005263691;XP_006712455;XP_006712456;XP_006712457 Hs.516306 1668980;1687772;2159118 D2S2911;RH47027;RH92848 EFA6B;FLJ36237;FLJ37279;TIC ADP-ribosylation factor guanine nucleotide-exchange factor 6;OTTHUMP00000203725;OTTHUMP00000203727;OTTHUMP00000203728;PH and SEC7 domain-containing protein 4;SEC7 homolog;exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 B;exchange factor for ADP-ribosylation factor guanine nucleotide factor 6B;exchange factor for ARF6 B;pleckstrin homology and SEC7 domain-containing protein 4;telomeric of interleukin-1 cluster protein protein-coding ENSG00000125637 HGNC:19096 15191 614442 VALIDATED 1352538 PSG1 pregnancy specific beta-1-glycoprotein 1 The human placenta is a multihormonal endocrine organ that produces hormones, enzymes, and other molecules that support fetal survival and development. Pregnancy-specific beta-1-glycoprotein (PSBG, PSG) is a major product of the syncytiotrophoblast, reaching concentrations of 100 to 290 mg/l at term in the serum of pregnant women (Horne et al., 1976 [PubMed 971765]). PSG is a member of the immunoglobulin (Ig) superfamily (Watanabe and Chou, 1988 [PubMed 3257488]; Streydio et al., 1988 [PubMed 3260773]).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40171109 40184367 - 43370613 43383921 - 42866461 42879764 - 1580863;6480464;8699517;8554872 11076863;12223519;12477932;14702039;15057824;15489334;15489336;1572651;16169070;16303743;16381901;18987160;19911417;20335639;21193412;2341148;2346748;2350345;2377620;2537643;2541441;2735907;2783133;2786492;3180995;3257488;3260773;3265688;7794280;9290143;971765 5669 G5E9F7;M0QY44;M0QZQ1;M0R235;P11464 ABBA01040855;AC005238;AK056754;AK300152;AK300206;AK311491;AMYH02036158;BC022338;BC058285;CH471126;CR450329;HC007234;J04539;M17908;M17909;M20879;M20881;M21822;M22437;M25385;M33663;M33664;M34715;M37397;NM_001184825;NM_001184826;NM_001297773;NM_006905;XM_005259063;XM_005259064;XM_005259065;XM_005259066;XM_005259067 AAA36511;AAA36513;AAA36515;AAA36517;AAA52590;AAA52591;AAA52601;AAA52602;AAA52603;AAA60196;AAA60204;AAA60960;AAC25484;AAC25485;AAC25486;AAC25487;AAC25488;AAC25489;AAC25490;AAH22338;AAH58285;BAG61937;BAG61977;CAG29325;CAL38076;CAL38478;CAL38521;CBH19422;EAW57154;EAW57155;EAW57156;EAW57157;EAW57158;EAW57159;EAW57160;EAW57161;NP_001171754;NP_001171755;NP_001284702;NP_008836;P11464;XP_005259120;XP_005259121;XP_005259122;XP_005259123;XP_005259124 Hs.709192 1337068;2150413;5017140;5091482;5096147;5106321;5106569;5120778;7183715;7185348 D19S1087;D19S211;GDB:374795;RH46317;STS-M30629;STS-T95748;WI-11896;WI-17469 B1G1;CD66f;DHFRP2;FL-NCA-1/2;FLJ90598;FLJ90654;PBG1;PS-beta-C/D;PS-beta-G-1;PSBG-1;PSBG1;PSG95;PSGGA;PSGIIA;SP1 CD66 antigen-like family member F;OTTHUMP00000199195;OTTHUMP00000199196;OTTHUMP00000199197;OTTHUMP00000199198;fetal liver non-specific cross-reactive antigen 1/2;pregnancy-specific B-1 glycoprotein;pregnancy-specific beta-1 glycoprotein C/D;pregnancy-specific beta-1-glycoprotein 1;pregnancy-specific glycoprotein 1 APPROVED protein-coding ENSG00000231924 HGNC:9514 01449 176390 VALIDATED 1345606 PSG3 pregnancy specific beta-1-glycoprotein 3 The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40026127 40045001 - 43225794 43244668 - 42721642 42740516 - 1580863;6480464;8554872 12477932;15057824;15231748;15489334;16344560;2302228;2341148;2350345;2387594;2788412;3265688;7851895;7851896;8487756 5671 M0QX68;M0QXP2;Q16557 A23031;ABBA01040855;AC004654;AC005337;AMYH02036158;BC005924;BG620196;CH471126;DA833589;HC007240;M23575;M27907;M30628;M34420;M37399;M93061;NM_021016;S59493;S59494 AAA52606;AAA52607;AAA57349;AAA60207;AAA60958;AAA66498;AAC15513;AAC60584;AAC60585;AAH05924;ABM87461;ABW03894;CAA01646;CBH19425;EAW57146;EAW57147;EAW57148;NP_066296;Q16557 Hs.654413 5017140;5091482;5120784;5126518 D19S1094;GDB:374810;STS-T95748;WI-17469 PS-beta-G-3;PSBG-3 OTTHUMP00000199194;carcinoembryonic antigen SG5;pregnancy-specific beta-1-glycoprotein 3;pregnancy-specific glycoprotein 3 APPROVED protein-coding ENSG00000221826 HGNC:9520 08892 176392 VALIDATED 1344333 PSG10P pregnancy specific beta-1-glycoprotein 10, pseudogene The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40141645 40160366 - 43341149 43359870 - 42836997 42855718 - 1580863 15057824;1572651;1690992;2271648;2377620;2537643;2783133;2789512;8349632 653492 ABBA01040855;AC004603;AC005238;AF106559;AF106560;AK309876;AMYH02036158;L14723;L14724;L14725;L14726;L14727;L14728;L14729;M74108;NR_026824 Hs.655399;Hs.733002 1651955;5017140;5091482 SHGC-36197;STS-T95748;WI-17469 PSG10;PSG12 APPROVED pseudo HGNC:9515 176399 PROVISIONAL 1353660 PSG11 pregnancy specific beta-1-glycoprotein 11 The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40206738 40331136 - 43511809 43530658 - 43007657 43026479 - 1580863;6480464;8554872 10737800;12477932;1690992;17207965;1840485;22748001;7794280;7851895 5680 M0R276;M0R2P9;Q9UQ72 ABBA01040855;AC004784;AC005947;AF129398;AMYH02036158;BC020711;BE767872;BF084984;BG571293;BG619770;CH471126;M69245;NM_001113410;NM_002785;NM_203287;R66665;U25988 AAA36516;AAA75299;AAD38357;AAH20711;ADQ32252;EAW57166;EAW57167;EAW57168;NP_001106881;NP_002776;NP_976032;Q9UQ72 Hs.741150 1662658;1673558;1725813;1761095;2110681;2119730;2139808;5106173;5120782 A009J14;G61993;GDB:374803;PSG11_3147;RH69096;RH69424;RH70030;SHGC-145082;SHGC-35289 MGC22484;PS-beta-G-11;PS-beta-G-13;PSBG-11;PSBG-13;PSG13;PSG14 OTTHUMP00000200192;OTTHUMP00000200193;OTTHUMP00000200194;pregnancy specific beta-1-glycoprotein 13;pregnancy-specific beta-1-glycoprotein 11;pregnancy-specific beta-1-glycoprotein 13;pregnancy-specific glycoprotein 11;pregnancy-specific glycoprotein 13 APPROVED protein-coding ENSG00000243130 HGNC:9516 08898 176401 VALIDATED 1348613 PSG4 pregnancy specific beta-1-glycoprotein 4 The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40497440 40510369 - 43696854 43709926 - 43192702 43205774 - 1580863;6480464;8554872 10737800;12477932;1690992;1922019;2271648;2346490;2537643;2783133;3180995;7794280;7851895;7851896;9645429 5672 B3KQL2;C9JWP2;M0QY31;M0QYU2;M0R046;M0R0B3;M0R215;M0R2A2;M0R2U8;M0R2Y7;Q00888;Q6P520;Q96QL5 ABBA01040855;AC005392;AF288220;AF289606;AK075149;AMYH02036160;BC008405;BC013431;BC035419;BC063127;BG006351;BX403624;CH471126;HC007242;M32623;M32624;M32625;M32626;M32627;M33665;M94891;NM_001276495;NM_002780;NM_213633;U18468;U18469;X17097;XM_005259069;XM_005259073 AAA60195;AAA60208;AAA75294;AAA75295;AAF91489;AAH08405;AAH63127;AAL55790;BAG52074;CAA34956;CBH19426;EAW57174;EAW57175;EAW57176;EAW57177;NP_001263424;NP_002771;NP_998798;Q00888;XP_005259126;XP_005259130 Hs.711363 1688596;2138201;2150413;5015480;5091482;5114353;5120778;5120806;5125018 D19S1087;GDB:374795;GDB:375167;RH18009;RH39145;RH46954;RH99270;STS-N26627;STS-T95748 PS-beta-G-4;PS-beta-G-9;PSBG-4;PSBG-9;PSG9 OTTHUMP00000200189;OTTHUMP00000200190;Pregnancy-specific beta-1-glycoprotein-4;pregnancy-specific beta-1-glycoprotein 4;pregnancy-specific beta-1-glycoprotein 9;pregnancy-specific glycoprotein 4;pregnancy-specific glycoprotein 9 APPROVED protein-coding ENSG00000243137 HGNC:9521 08893 176393 VALIDATED 1343677 PSG2 pregnancy specific beta-1-glycoprotein 2 The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.1-q13.2 40368864 40387393 - 43568362 43586893 - 43064210 43082741 - 1580863;6480464 12477932;15057824;15231748;15489334;15906358;1690992;20028516;20071292;2350345;2377620;3260773;7851896;8432525 5670 P11465 ABBA01040855;AC005791;AC024077;AMYH02036159;BC022316;CH471126;HC007238;M20882;M37398;NM_031246 AAA52604;AAA60959;AAC62831;AAH22316;ABM82285;ACE87068;ACE87750;CBH19424;EAW57169;EAW57170;NP_112536;P11465 Hs.709200 1725813;2138201;5017140;5106173;5120782 G61993;GDB:374803;RH69096;STS-N26627;WI-17469 CEA;PS-beta-E;PS-beta-G-2;PSBG-2;PSBG2;PSG1;PSGGB OTTHUMP00000200195;OTTHUMP00000200196;OTTHUMP00000200197;OTTHUMP00000200198;Pregnancy-specific beta-1-glycoprotein-2;carcinoembryonic antigen SG8;pregnancy-specific beta-1 glycoprotein E;pregnancy-specific beta-1-glycoprotein 2;pregnancy-specific beta-1-glycoprotein 7;pregnancy-specific glycoprotein 2 APPROVED protein-coding ENSG00000242221 HGNC:9519 08891 176391 VALIDATED 733569 PSEN2 presenilin 2 Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 200249068 200274610 + 227057885 227083804 + 226870572 226896103 + 729530;1302522;1300048;1302521;2302204;2302525;6480464;6907045;7240710;8554872;8699517 10518543;11803125;16474849;17761886;9246481 10037471;10069390;10078972;10361981;10366599;10369872;10446169;10497236;10631141;10652302;10677567;10732806;10748169;10854253;10922078;10993067;11001931;11076969;11278424;11436125;11518718;11568920;11719200;11738826;11799129;11847232;11876645;11891288;11904448;11987239;12048259;12058025;12173418;12196555;12198112;12210343;12232783;12297508;12403846;12471034;12477932;12556443;12605888;12639958;12770698;12787561;12817569;12843241;12846562;12885769;12925374;14504279;14577603;14741365;14769392;15004330;15006697;15274632;15474363;15489334;15534001;15537629;15591316;15629423;15663477;15721744;15755689;15776278;15951428;15975068;16014629;16135086;16233903;16258850;16344560;16375654;16423463;16620965;16630834;16813565;17268504;17268505;17345043;17401156;17401676;17412506;17560791;17614368;17727891;17903177;17986144;18087668;18283638;18293935;18350357;18427071;18591429;18667258;18727676;18842294;18854154;18996842;19036728;19073399;19276543;19382908;19573580;19768372;19834068;19889971;19913121;19946888;20008660;20009122;20164579;20301340;20301414;20301486;20333730;20375137;20457965;20468060;20594621;20628086;20677014;20701429;20850903;21163940;21234330;21285369;21409510;21545304;21906983;21914807;21959359;21963094;22027014;22045484;22074918;22249458;22302987;22312439;22503161;22580083;22753229;22755192;22872014;23546527;23589300;23707529;23884042;24145027;7638621;7638622;7651536;8574969;8618867;8661049;8878479;8939861;8940094;8972483;9050898;9073509;9219695;9223340;9252383;9298903;9384602;9437013;9450781;9521418;9558331;9632714;9683324;9771752;9813158;9852298;9990034 5664 B1AP22;E5RFW4;E5RG63;E5RHT1;E5RJM5;P49810 ABBA01009628;AF416718;AI091221;AK292299;AK301143;AL359732;AL391628;AMYH02002820;BC006365;BT006984;CH471098;DA198818;DA915823;JB312310;L43964;L44577;NG_007381;NM_000447;NM_012486;U34349;U50871;XM_005273199 AAB50054;AAB59557;AAC42012;AAC50290;AAH06365;AAL16812;AAP35630;ABM81572;ABM84752;BAF84988;BAG62735;CDH92547;EAW69796;EAW69797;EAW69798;EAW69799;EAW69800;NP_000438;NP_036618;P49810;XP_005273256 Hs.25363 1335316;1679357;1798028;2136941;5037692;5037694 D1S3685E;D1S3686E;D1S479;PSEN2_2369;RH80332;SHGC-35541 AD3L;AD3LP;AD4;AD5;CMD1V;E5-1;PS-2;PS2;STM-2;STM2 Alzheimer disease 4;Alzheimer's disease 3-like;OTTHUMP00000035671;OTTHUMP00000035672;OTTHUMP00000228286;OTTHUMP00000228288;presenilin-2 APPROVED protein-coding ENSG00000143801 HGNC:9509 02860 600759;606889;613697 REVIEWED 1353998 PSG5 pregnancy specific beta-1-glycoprotein 5 The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40472487 40491282 - 43671895 43690688 - 43167743 43186536 - 1580863;6480464;8554872 12477932;1454058;15231748;15489334;16344560;16563348;1690992;17207965;17978129;1922019;21982860;23418492;23469002;2537643;2735907;2789512;7794280;7851895;8889549 5673 E7EQY3;E9PC55;M0R1G9;Q15238 AA151017;ABBA01040855;AC005392;AMYH02036160;BC012607;BG621332;BG622527;CH471126;DA835167;L36606;L36607;M25384;M32628;M32629;M32630;M32631;M32632;M32633;M32634;M32635;M73713;NM_001130014;NM_002781;S49771;X63203 AAA21765;AAA21881;AAA36514;AAA60205;AAB24372;AAH12607;ACE86737;ACE87423;ADQ32330;CAA44885;EAW57171;EAW57172;EAW57173;NP_001123486;NP_002772;Q15238 Hs.654415 1651955;5017140;5091482;5106173;5120808 GDB:375170;RH69096;SHGC-36197;STS-T95748;WI-17469 FL-NCA-3;PS-beta-G-5;PSBG-5;PSG OTTHUMP00000200178;OTTHUMP00000200179;OTTHUMP00000200180;OTTHUMP00000200181;Pregnancy-specific beta-1-glycoprotein-5;fetal liver non-specific cross-reactive antigen 3;pregnancy-specific beta 1 glycoprotein;pregnancy-specific beta-1 glycoprotein;pregnancy-specific beta-1-glycoprotein 5;pregnancy-specific glycoprotein 5 APPROVED protein-coding ENSG00000204941 HGNC:9522 08894 176394 VALIDATED 1345325 PSG6 pregnancy specific beta-1-glycoprotein 6 This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 19 19 19 q13.2 40206738 40222541 - 43406234 43422076 - 42902082 42917924 - 1580863;6480464;8554872 12477932;15057824;15489334;16344560;1690992;2271648;2346748;2377620;2537643;2783133;7794280;7851895;7851896;8006022 5675 B5MCE1;M0QXW0;M0QZA7;M0R314;Q00889 ABBA01040855;AC005260;AI148792;AMYH02036158;BC020652;CH471126;DA833634;HC007246;M31125;M32621;M33666;NM_001031850;NM_002782;X17098 AAA36512;AAA60201;AAA60206;AAC25619;AAC25620;AAH20652;ABM84040;ABM87387;CAA34957;CBH19428;EAW57162;EAW57163;NP_001027020;NP_002773;Q00889 Hs.646353 1662658;1725813;5091482;5110847;5120810;5126518 D19S1094;G29201;G61993;GDB:375179;RH70030;STS-T95748 PS-beta-G-10;PS-beta-G-12;PS-beta-G-6;PSBG-10;PSBG-12;PSBG-6;PSG10;PSGGB OTTHUMP00000199200;OTTHUMP00000199201;OTTHUMP00000199202;pregnancy-specific beta-1-glycoprotein 10;pregnancy-specific beta-1-glycoprotein 12;pregnancy-specific beta-1-glycoprotein 6;pregnancy-specific glycoprotein 10;pregnancy-specific glycoprotein 12;pregnancy-specific glycoprotein 6 APPROVED protein-coding ENSG00000170848 HGNC:9523 08895 176395 REVIEWED 1347251 PSG7 pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 19 19 19 q13.2 40228782 40241835 - 43428284 43441330 - 42924132 42937178 - 1580863;6480464;8554872 11501563;12477932;15057824;15342556;1572651;16344560;1690992;18792801;19562724;20116096;2328001;2377620;7566098;7794280;7851895 5676 Q13046;Q15230 ABBA01040855;AC005260;AC093055;AF106553;AF106554;AK309898;AL546656;AMYH02036158;BC030979;BC136401;BG434892;BP321474;BX097470;BX952498;CH471126;DB381347;DC380850;KF454892;M32619;M37754;M37755;M74105;NM_001206650;NM_001290042;NM_002783;NR_073194;T29414;U18467 AAA60199;AAA60200;AAA75293;AAC25621;EAW57164;EAW57165;NP_001193579;NP_001276971;NP_002774;Q13046 Hs.709203 2119730;2139808;5015480;5126518 A009J14;D19S1094;RH46954;SHGC-35289 PS-beta-G-7;PSBG-7;PSG1;PSGGA OTTHUMP00000209547;pregnancy-specific beta-1-glycoprotein;pregnancy-specific glycoprotein 7;putative pregnancy-specific beta-1-glycoprotein 7 APPROVED protein-coding ENSG00000221878 HGNC:9524 08896 176396 REVIEWED 1346220 PSG8 pregnancy specific beta-1-glycoprotein 8 The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40057172 40070164 - 43256839 43269831 - 42752687 42765679 - 6480464;8554872 12477932;14702039;1572651;1672663;2302228;3263130;7851895 440533 E7ENH0;M0QYP3;Q9UQ74 ABBA01040855;AC004654;AK092458;AK300230;AL545004;AMYH02036158;BC137500;BC142628;BX114490;CH471126;CR749812;M22311;M22312;M30629;M74106;M74196;NM_001130167;NM_001130168;NM_182707 AAA60025;AAA60026;AAA60027;AAA67524;AAC15514;AAI37501;AAI42629;BAG61998;CAH18672;EAW57149;EAW57150;EAW57151;NP_001123639;NP_001123640;NP_874366;Q9UQ74 Hs.466843 2119730;2139244;5015480;5091482;5093194;5106569 A007E07;A009J14;G32576;RH46954;STS-M30629;STS-T95748 DKFZp781L10202;PS-beta-G-8;PSBG-8;PSG1 C1 alternate;C2 alternate;C3 alternate;OTTHUMP00000199185;OTTHUMP00000199186;OTTHUMP00000199187;OTTHUMP00000199188;pregnancy-specific beta-1 glycoprotein;pregnancy-specific beta-1-glycoprotein 8;pregnancy-specific glycoprotein 8 APPROVED protein-coding ENSG00000124467 HGNC:9525 15939 176397 VALIDATED 1347296 PSIP1P1 PC4 and SFRS1 interacting protein 1 pseudogene 1 9 9 9 p22.2 14988586 14990219 + 15054965 15056598 + 15054967 15056600 + 23934736 353329 ABBA01065288;AL592293;AMYH02019203;NG_002792 1698196 RH102634 PSIP1P APPROVED pseudo HGNC:31132 INFERRED 2881563 PSIP1P2 PC4 and SFRS1 interacting protein 1 pseudogene 2 X Y Y q11 2812651 2813423 - 15829945 15830717 - 13718065 13718837 - 12815422;9847074 360022 ABBA01065493;AC006371;NG_002938 pseudo HGNC:23968 INFERRED 1312210 PSKH1 protein serine kinase H1 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); FOUND IN cytoskeleton (inferred); endoplasmic reticulum (inferred); Golgi apparatus (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 q22.1 52435604 52472038 + 67927175 67963581 + 67893272 67929678 + 1580863;6480464 11058107;11087665;12466556;12477932;14644153;15123239;15489334;16344560;20686565;21988832;22939624;24097068;24447338;2948189;8268911;9889196 5681 P11801 ABBA01025464;ABBA01025465;ABBA01025466;ABBA01025467;AC040162;AJ272212;AK309272;AMYH02032244;BC021584;BC037560;BC062616;CH471092;DA429976;M14504;NM_006742 AAA36519;AAH62616;CAB91984;EAW83185;NP_006733;P11801 Hs.513683 2108407;2110345;2131189;2153431;2170436 CTRL_8289;D16S2961;PSKH1_8573;RH70891;SHGC-63628 PSK-H1 OTTHUMP00000174853;serine/threonine-protein kinase H1 protein-coding ENSG00000159792 HGNC:9529 01511 177015 VALIDATED 1345682 PSKH2 protein serine kinase H2 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); pirinixic acid (ortholog) 8 8 8 q21.3 83255051 83276199 - 87060691 87081851 - 86048462 86069622 - 1580863;6480464;8554872 12471243;12477932;15489334;22939624 85481 Q96QS6 ABBA01037356;AC023194;AMYH02018356;AY037806;BC126180;BC126182;BC144195;CH471060;KF458788;NM_033126 AAI26181;AAI26183;AAK59985;ADR83152;EAW91630;NP_149117;Q96QS6 Hs.680136 PSK-H2 OTTHUMP00000224484;serine/threonine kinase PSKH2;serine/threonine-protein kinase H2 protein-coding ENSG00000147613 HGNC:18997 15192 PROVISIONAL 1350264 PSIP1 PC4 and SFRS1 interacting protein 1 ENCODES a protein that exhibits activating transcription factor binding; chromatin binding; poly(A) RNA binding; INVOLVED IN mRNA 5'-splice site recognition; positive regulation of transcription from RNA polymerase II promoter; response to heat (ortholog); FOUND IN nuclear heterochromatin; nuclear periphery; nucleoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 5-aza-2'-deoxycytidine 9 9 9 p22.3 15397404 15444340 - 15464064 15511003 - 15464066 15511005 - 1580863;6480464 10623627;10721720;10856157;11512661;12091904;12126624;12181742;12228227;12407101;12477932;12796494;15163664;15302935;15308744;15371438;15475359;15479846;15501393;15501396;15725483;15749713;15788449;15797927;15855167;15875659;15895093;16075307;16083285;16260736;16291214;16311605;16314581;16337983;16344560;16403635;16403949;16439544;16735438;16793062;16959283;16959972;16987986;17083721;17137594;17158150;17172465;17258258;17267486;17298035;17304248;17320002;17328897;17397262;17451600;17488811;17639082;17669426;17804545;18029348;18036557;18092005;18174227;18247352;18264802;18369482;18480474;18598942;18691555;18708362;18781797;18789977;18799576;18801737;18850631;19014595;19015031;19020831;19020832;19049878;19081927;19119323;19132083;19229293;19232540;19244240;19389610;19401538;19471022;19531213;19565598;19609359;19609362;19715609;19750561;19759913;19801648;19836475;19855849;19864417;19889764;19934313;20016921;20018238;20133638;20171172;20331877;20367881;20382164;20406807;20473303;20538907;20631726;20678206;20712566;20719241;20850978;20974633;21110914;21139048;21152581;21156026;21182205;21222490;21270171;21329475;21409951;21454548;21506277;21510906;21623867;21676593;21681054;21693764;21763490;21771857;21778063;21784078;21875413;21890473;21900206;21906983;21907836;21915354;21987578;21994569;21994603;22019592;22103895;22113938;22190034;22275515;22276150;22278243;22291694;22317832;22327296;22334021;22421880;22437836;22479480;22535962;22615581;22615874;22647853;22664975;22733274;22748127;22751105;22762018;22773103;22803661;22808106;22872640;22928108;22939629;23000965;23024700;23043109;23046280;23046603;23097450;23138933;23211777;23217620;23226247;23306052;23369367;23443559;23445471;23593299;23610442;23671082;23721378;23758584;23799881;23803661;23863879;23985689;23994868;24014475;24051001;24332808;24634210;24816145;8889548;9822615;9885563 11168 O75475;Q8N4N4;V9GYT7 ABBA01065277;ABBA01065278;AF063020;AF098482;AF098483;AF199339;AF432220;AL359998;AL441925;AL513423;AMYH02019211;BC013160;BC022971;BC033817;BC040032;BC044568;BC064135;BQ186453;BX649155;CH471071;DA117094;NM_001128217;NM_021144;NM_033222;U94319;XM_005251355;XM_005251356;XM_005251357;XM_005251358 AAB52589;AAC25167;AAC97945;AAC97946;AAF25870;AAF25871;AAH22971;AAH33817;AAH44568;AAH64135;AAL99926;EAW58675;EAW58676;EAW58677;EAW58678;EAW58679;NP_001121689;NP_066967;NP_150091;O75475;XP_005251412;XP_005251413;XP_005251414;XP_005251415 Hs.658434 1674614;1688366;1698196;2120262;2137159;2143796;2162617;2174218;2217858;5015861;7185938 D10S16;D9S1149;G27467;G35007;PSIP1_3542;RH102634;RH16596;RH92265;SHGC-64828;STS-R43279 DFS 70;DFS70;LEDGF;MGC74712;PAIP;PSIP2;p52;p75 CLL-associated antigen KW-7;OTTHUMP00000022753;OTTHUMP00000022754;OTTHUMP00000022755;OTTHUMP00000022756;PC4 and SFRS1-interacting protein;dense fine speckles 70 kDa protein;lens epithelium-derived growth factor;transcriptional coactivator p52/p75;transcriptional coactivator p75/p52 protein-coding ENSG00000164985 HGNC:9527 04688 603620 VALIDATED 6482614 PSMA2P1 proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 1 11 11 11 q14.2 84351696 84352390 - 87040398 87041092 - 87329356 87330050 - 100130923 ABBA01017311;AMYH02025246;AP000811;NG_021795 pseudo HGNC:43832 INFERRED 731724 PSEN1 presenilin 1 Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008] 14 14 14 q24.3 53666429 53753632 + 73603143 73690399 + 73136435 73223691 + 1580694;1331525;1302519;729595;1300048;1302520;1334462;1580863;2302204;6480464;6484113;6907045;7240710;8554872;8699517 12401445;14986688;15118671;16079160;17761886;7596406;9160754 10025789;10037471;10069390;10077672;10090481;10092585;10200054;10206644;10206645;10208579;10208590;10341227;10366599;10369872;10401002;10439444;10441572;10446169;10447269;10521466;10527805;10533070;10545183;10551805;10587643;10593990;10631141;10635315;10801777;10801983;10805794;10811883;10854253;10891589;10899933;10993067;11027672;11030797;11076969;11094121;11104755;11110974;11129109;11140838;11168528;11200686;11226248;11389157;11436125;11444983;11504726;11518718;11524469;11568920;11710891;11719200;11738826;11744687;11755019;11757955;11775232;11799129;11827452;11836371;11847232;11876645;11891288;11904448;11905990;11912199;11920851;11927360;11943765;11953314;11973477;11987239;12048239;12048259;12050157;12056836;12058025;12070348;12111439;12112163;12119298;12121968;12147673;12192622;12196555;12198112;12207970;12214059;12218704;12230303;12297048;12297508;12354302;12374741;12377771;12413003;12435726;12444985;12460547;12470641;12471034;12477932;12484344;12493737;12495082;12508121;12522139;12535650;12551931;12603837;12609057;12629514;12639958;12660785;12668610;12679784;12686406;12740439;12742741;12752408;12787561;12794186;12805290;12817569;12821663;12843241;12846562;12850546;12885573;12885769;12901838;12925374;12935881;12960155;1303289;1349467;13678586;1411576;14502086;14504279;14515347;14550564;14572442;14576165;14581682;14590205;14625299;14645205;14702039;14717705;14741365;14756819;14759258;14769392;14993906;15003276;15004326;15037614;15087467;15109302;15115757;15119739;15122701;15123598;15123653;15147205;15159497;15192701;15205973;15209417;15210705;15240571;15257293;15272895;15274632;15294909;15308304;15322084;15322109;15340889;15341515;15345747;15448688;15469450;15474363;15476169;15480851;15480879;15489334;15534001;15534188;15534260;15537629;15549135;15569674;15591316;15622541;15629423;15703411;15721744;15722417;15732120;15743767;15764367;15764596;15776278;15843437;15851849;15866047;15908021;15917251;15936948;15946688;15951428;15975068;15975090;16006137;16014629;16046406;16116115;16126725;16128583;16135086;16139258;16234243;16234244;16267640;16305624;16306047;16344340;16344560;16376112;16388371;16401857;16407539;16423463;16511561;16569643;16574645;16605258;16620965;16628450;16630834;16641999;16735229;16756946;16813565;16814287;16815845;16846981;16897084;16908988;16916581;16938285;16941492;16952411;16959576;17081983;17088253;17099291;17108181;17158800;17192785;17207965;17210196;17229472;17259169;17268504;17268505;17309564;17320044;17349981;17360711;17366635;17389597;17401156;17405936;17412506;17431506;17489097;17502474;17507029;17553989;17560791;17573346;17588625;17594345;17627113;17630980;17632280;17645236;17718701;17719017;17852592;17942194;17962197;17968601;17986144;18024701;18028191;18090315;18174159;18239458;18293935;18299393;18314228;18317569;18320103;18350357;18376127;18403054;18430735;18437002;18445230;18479822;18525293;18579078;18580586;18587238;18591429;18637955;18667258;18667537;18706205;18762245;18790549;18801744;18830724;18842294;18957849;18971484;18996842;19001354;19012753;19015863;19017784;19036728;19111578;19221408;19232479;19260824;19272356;19276550;19276551;19292975;19650138;19667325;19675248;19682973;19710022;19796846;19797784;19833411;19834068;19849793;19853643;19885829;19889475;19889971;19924286;20008141;20008660;20009122;20018629;20034479;20036849;20052609;20106965;20158511;20160458;20164095;20168091;20219685;20237298;20299451;20301340;20301414;20301486;20301678;20307581;20379614;20388456;20399254;20413895;20418378;20445084;20456003;20460383;20481270;20484632;20534741;20541250;20594621;20677014;20701429;20724034;20806406;20847418;20847436;20858963;20858974;20880607;20929727;20970889;21033353;21115843;21139048;21143716;21144619;21163940;21238544;21277951;21296022;21297272;21305049;21323574;21422519;21545304;21559374;21621296;21656036;21726674;21762767;21784978;21852538;21860086;21906983;21914807;21919498;21929538;21951279;21959359;21988832;22014620;22027014;22045484;22045496;22074918;22133015;22214483;22230888;22297172;22311977;22312439;22393443;22426017;22443192;22459153;22461631;22503161;22505025;22508690;22529981;22561329;22572737;22607268;22622421;22634208;22689582;22710270;22753898;22755192;22766738;22771797;22810102;22879628;22882713;22939629;22975585;23000965;23026200;23046926;23064434;23096707;23114514;23123781;23134660;23137948;23137949;23138650;23237322;23244427;23271316;23291095;23337342;23371443;23379308;23380992;23396974;23415546;23474291;23483213;23489366;23575824;23579331;23583593;23584198;23585889;23624206;23638752;23660953;23674689;23707529;23740836;23792692;23827013;23884042;23904197;23905998;23942054;23948899;23990795;24121961;24138759;24145027;24192669;24217025;24239350;24256243;24315833;24344333;24399296;24410857;24416243;24569455;24816145;24816373;24928006;7550356;7623584;7651536;8125298;8574969;8634711;8634712;8641442;8733303;8742474;8755489;8804415;8837617;8875251;8878479;8922407;8931704;9007311;9013610;9052708;9070286;9073509;9144240;9172170;9173929;9223106;9223340;9225696;9246482;9298817;9298903;9384602;9436726;9437013;9443865;9485372;9507958;9521418;9521423;9544835;9632714;9689133;9712537;9719376;9738936;9771752;9831473;9833068;9851443;9851450;9852041;9915968 5663 E7ES96;G3V2B1;G3V2G7;G3V3P0;G3V3Z0;G3V449;G3V490;G3V499;G3V4M0;G3V4P4;G3V519;G3V5B1;H0YM52;H0YNU4;P49768 AB159776;ABBA01030764;ABBA01030765;ABBA01030766;ABBA01030767;AC004846;AC004858;AF109907;AF416717;AJ008005;AK094186;AK094256;AK122722;AK223173;AK303876;AK312531;AMYH02029483;AMYH02029484;AMYH02029485;AMYH02029486;AW069286;AX244146;AX244648;BC002708;BC011729;CH471061;D84149;DA670846;DB075605;DB203403;JB312308;L42110;L76517;L76528;NG_007386;NM_000021;NM_007318;U40379;U40380;XM_005267864;XM_005267866 AAB05894;AAB05895;AAB46370;AAB46371;AAB46416;AAC97960;AAF19253;AAF19254;AAH11729;AAL16811;ADQ31747;BAA20883;BAD30017;BAD96893;BAG35430;BAH14071;CAA07825;CAC88544;CAC88578;CDH92546;EAW81091;EAW81092;EAW81093;EAW81094;EAW81095;EAW81096;EAW81097;NP_000012;NP_015557;P49768;XP_005267921;XP_005267923 Hs.3260 1334799;1649303;1653230;1659597;1665684;1668940;1696106;1739681;1739683;1739685;1739687;1740693;1769188;1773195;1787846;1796580;1851574;2117379;2132547;2135606;2137601;2141740;2143312;2143664;2146782;2152241;2166219;2167617;2168422;2169259;2172045;2172902;2179155;2181072;5015961;5121780 A005E05;D14S1264;D14S1438;D14S1439;D14S1440;D14S1442;D14S43;D15S1477;G35501;G35565;G35665;G38066;G38068;G38129;G38133;G38136;G38175;G38176;G38182;G38184;G38198;G38203;G38215;G38218;G38220;G38272;G38323;G38324;PSEN1_232;RH77790;SGC34362;SHGC-132632;SHGC-31609;SHGC-36769;SHGC-78932;WI-11404 AD3;FAD;PS-1;PS1;S182 OTTHUMP00000180587;OTTHUMP00000180588;OTTHUMP00000180589;OTTHUMP00000180591;OTTHUMP00000246399;OTTHUMP00000246538;OTTHUMP00000246578;presenilin 1 (Alzheimer disease 3);presenilin-1 APPROVED protein-coding ENSG00000080815 HGNC:9508 00087 104311;172700;600274;607822;613694;613737 REVIEWED 6482613 PSMA2P2 proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 2 8 8 8 q22.1 91138374 91141165 - 94952314 94955105 - 93940086 93942877 - 100131775 ABBA01037444;AC084346;AMYH02018421;NG_022397 pseudo HGNC:43833 INFERRED 1349601 PSG9 pregnancy specific beta-1-glycoprotein 9 The protein encoded by this gene is a member of the pregnancy-specific glycoprotein (PSG) family. This protein family and the closely related carcinoembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobulin superfamily, and are organized as a large gene cluster. This protein is thought to inhibit platelet-fibrinogen interactions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed in colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014] 19 19 19 q13.2 40557978 40574226 - 43757434 43773709 - 43253282 43269530 - 1580863;6480464;8554872 12477932;15057824;15231748;15489334;1581354;15982419;16169070;1690992;1922019;2322584;2328001;2341148;2346748;2537311;7794280;7806221;7851895 5678 E7EW65;G3XAA7;H7C1I4;M0R0E4;M0R0U8;Q00887 ABBA01040855;AC005392;AK300187;AK300229;AK313256;AMYH02036160;BC005925;BC020759;BX952516;CH471126;CR407605;DC380417;HC007250;M34421;M34481;M38046;M38243;M58591;M94890;NM_001301707;NM_001301708;NM_001301709;NM_002784;U04323;U04324;U04325;U08197;U25987;X17610;XM_005259074;XM_005259075;XM_005259076;XM_005259077;XM_005259078;XM_005259079 AAA18432;AAA52605;AAA60194;AAA60203;AAA63251;AAA63252;AAA74512;AAA75298;AAA78263;AAA78264;AAA78266;AAH05925;AAH20759;ABM82311;ABM85487;BAG36066;BAG61963;BAG61997;CAA35612;CAG28533;CBH19430;EAW57179;EAW57180;EAW57181;EAW57182;EAW57183;EAW57184;NP_001288636;NP_001288637;NP_001288638;NP_002775;Q00887;XP_005259131;XP_005259132;XP_005259133;XP_005259134;XP_005259135;XP_005259136 Hs.502092 2178341 RH46955 PS-beta-B;PS-beta-G-11;PS-beta-G-9;PS34;PSBG-11;PSBG-9;PSG11;PSGII OTTHUMP00000200184;OTTHUMP00000200185;pregnancy specific beta-1-glycoprotein 11;pregnancy-specific beta-1 glycoprotein B;pregnancy-specific beta-1-glycoprotein 9 APPROVED protein-coding ENSG00000183668 HGNC:9526 08897 176398 VALIDATED 6482917 PSMA2P3 proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 3 2 2 q33.1 203044266 203044708 + 202179543 202179985 + 11161814 79055 ABBA01062554;AC079354;AMYH02005557;NG_032680 PSMA2L pseudo HGNC:43834 INFERRED 1354450 PSMA6P1 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 1 X Y Y q11.221 2381153 2382135 + 15398441 15399423 + 13286561 13287546 + 12815422;9847074 64596 ABBA01065544;ABBA01065545;AC010877;NG_002321 1646321;1690804;5093774 A009W21;G32915;RH79927 PSMA6-LIKE;PSMA6P;PSMA6Y APPROVED pseudo HGNC:17460 INFERRED 735266 PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q25.1 55769064 55777880 + 78832747 78841562 + 78540405 78549220 + 1580863;6480464;6907045 10893419;11205743;11285280;11745344;12167863;12376572;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;14733938;15029244;15146197;15225636;15303969;15489334;15782160;15887188;15987638;16196087;16222312;16423992;16503656;16678104;16714300;16759355;16964243;17203973;17314511;17323924;17558393;17573772;17948026;18385676;18385738;18780872;18781797;18922472;19013454;19056867;19193609;19471022;19596235;19615732;19851296;20198315;2025653;20530491;20554942;20587604;20723761;20972266;21139048;21145461;21565611;21853274;21890473;21906983;21963094;21987572;22053931;22268729;22491018;22505724;22797925;22801492;22863883;22939629;23000965;23184937;23438482;23503661;23901248;24250222;24816145;25015289;25027693;7811265;7821789;8175701;8619999;8687380;8692272;8811196;9079628;9311996;9811770;9846577;9875328 5685 H0YKS0;H0YKT8;H0YL69;H0YLC2;H0YLS6;H0YMA1;H0YMI6;H0YMV3;H0YMZ1;H0YN18;P25789;Q7Z474 ABBA01060588;AC027228;AK055714;AK315526;AL110100;AMYH02030865;BC001490;BC005361;BC022445;BC022817;BC030529;BC047667;BC056249;BC093069;BG528289;BG616186;BT009784;BU930105;CD365826;CH471136;CN337296;D00763;D28362;HB870627;HC928036;NM_001102667;NM_001102668;NM_002789 AAH05361;AAH22445;AAH22817;AAH47667;AAH56249;AAH93069;AAP88786;ABM83465;ABM86676;BAA00660;BAA05728;BAG37907;CBF59432;CBU84676;EAW99163;EAW99164;EAW99165;NP_001096137;NP_001096138;NP_002780;P25789 Hs.251531 1725587;2126000;2168128;5095346;5095348 D15S636E;G62016;PSMA4,_C.1-97G>T;PSMA4,_C.720C>T;WI-9202 HC9;HsT17706;MGC111191;MGC12467;MGC24813;PSC9 OTTHUMP00000185020;macropain subunit C9;multicatalytic endopeptidase complex subunit C9;proteasome (prosome, macropain) subunit, alpha type 4;proteasome component C9;proteasome subunit HC9;proteasome subunit L;proteasome subunit alpha type-4 APPROVED protein-coding ENSG00000041357 HGNC:9533 10168 176846 VALIDATED 1346695 PSMA3P proteasome (prosome, macropain) subunit, alpha type, 3 pseudogene 14 14 14 q23.1 40695863 40696684 + 60646030 60646851 + 60179312 60180133 + 326617 ABBA01018278;AL163853;AMYH02029292;NG_002607 pseudo HGNC:20029 INFERRED 736338 PSMA6 proteasome (prosome, macropain) subunit, alpha type, 6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013] 14 14 14 q13 15625404 15650528 + 35747811 35786680 + 35278558 35317479 + 6480464;6907045;7240710;8554872 10893419;10983987;11205743;11285280;11771738;11917093;11924531;12167863;12376572;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14733938;14743216;15029244;15225636;15489334;15887188;15936278;16045761;16169070;16196087;16503656;16707496;16759355;16845397;17189198;17323924;17353931;17370265;17384448;17535269;17555133;17558393;17573772;17948026;18029348;18157711;18158110;18231128;18358479;18775730;18781797;1888762;18922472;19013454;19056482;19182073;19193609;19272601;19282875;19336475;19526842;19535905;19596235;19615732;19624571;19738201;19781552;19913121;19941857;20408869;20628086;20682791;20953189;21139048;21145461;21319273;21420386;21565611;21853274;21890473;21906983;21963094;21987572;22053931;22072791;22158041;22310064;22505724;22623428;22863883;22882272;22939629;22944692;22990118;23000965;23022198;23026512;23111455;23438482;23443559;23503661;23824909;24457600;24583282;24654937;24809174;25015289;7681138;7811265;7821789;8618844;8811196;9056411;9079628;9096325;9311996;9451443;9497851;9811770;9846577 5687 G3V295;G3V2S7;G3V3I1;G3V3U4;G3V4S5;G3V5Z7;H0YJC4;P60900 AA090836;ABBA01061501;ABBA01061502;AF332577;AK298920;AK302008;AK313011;AK316223;AL121594;AL133163;AMYH02029006;AMYH02029007;BC002979;BC017882;BC022354;BC023659;BC070137;BG701535;BQ009843;BU198521;BU657545;CH471078;CR456944;D28434;HY028439;NG_011703;NM_001282232;NM_001282233;NM_001282234;NM_002791;NR_104110;X59417;X61972 AAG61139;AAH02979;AAH17882;AAH22354;AAH23659;AAH70137;ABM83272;ABM86477;BAA05800;BAG35846;BAG61026;BAG63411;BAH14594;CAA42052;CAA43964;CAG33225;EAW65876;EAW65877;NP_001269161;NP_001269162;NP_001269163;NP_002782;P60900 Hs.446260 1690804;1852674 G36278;RH79927 IOTA;MGC22756;MGC2333;MGC23846;PROS27;p27K 27 kDa prosomal protein;OTTHUMP00000178843;OTTHUMP00000244914;OTTHUMP00000244915;OTTHUMP00000244917;OTTHUMP00000244918;OTTHUMP00000245013;PROS-27;macropain iota chain;macropain subunit iota;multicatalytic endopeptidase complex iota chain;prosomal P27K protein;proteasome (prosome, macropain) subunit, alpha type 6;proteasome iota chain;proteasome subunit alpha type-6;proteasome subunit iota APPROVED protein-coding ENSG00000100902 HGNC:9535 04171 602855;608446 REVIEWED 5129002 PSMA6P2 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 2 X X X p22.2 16957936 16959122 + 12843929 12845115 + 12825810 12826996 + 729412 ABBA01071038;AC005859;AMYH02038885;AMYH02038886;NG_023174 2123740 RH12477 pseudo HGNC:39607 INFERRED 6480953 PSMA6P3 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 3 21 21 47491999 47492162 - 46072085 46072248 - 100874510 ABBA01074221;AMYH02037945;AP001472;NG_032329 pseudo HGNC:39608 INFERRED 733996 PSMA1 proteasome (prosome, macropain) subunit, alpha type, 1 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] 11 11 11 p15.1 14651494 14790271 - 14526422 14665180 - 14504876 14643634 - 6480464;6907045;8554872 10068451;10799514;10893419;10983987;11205743;12150907;12167863;12376572;12419264;12477932;12719574;12750511;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;1398136;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14733938;1517242;15225636;15489334;15831487;15887188;16169070;16189514;16196087;16344560;16503656;1660345;16713569;17203973;17292860;17314511;17323924;17353931;17506986;17573772;17623298;17948026;18029348;18654987;18854154;1888762;18922472;19013454;19056867;19060904;19193609;19349280;19596235;2025653;21139048;21145461;21565611;21703233;21733848;21832049;21853274;21890473;21906983;21963094;21987572;21988832;22053931;22079093;22190034;22268729;22505724;22623428;22863883;22939629;23000965;23393163;23438482;23443559;23503661;23535033;24040035;24429290;24654937;24816145;24923447;25015289;25027693;7681138;7811265;8206875;8811196;9079628;9311996;9451443;9464850;9497851;9811770;9846577 5682 B4DEV8;B4E0X6;F5GX11;F5H112;P25786 ABBA01061103;ABBA01061104;ABBA01061105;AC018523;AC087207;AK290765;AK303565;AMYH02024357;AMYH02024358;AMYH02024359;AW015660;BC002577;BC005932;BC008472;BC009576;BC015105;BC015356;BC022372;BT006647;CH471064;D00759;DA549688;FJ224300;HB870585;HC927994;M64992;NM_001143937;NM_002786;NM_148976;X61969 AAA92734;AAH02577;AAH05932;AAH08472;AAH09576;AAH15105;AAH15356;AAH22372;AAP35293;ABM85586;ACI45992;BAA00656;BAF83454;BAG64588;CAA43961;CBF59411;CBU84655;EAW68476;EAW68477;EAW68478;EAW68479;NP_001137409;NP_002777;NP_683877;P25786 Hs.102798 1657680;1666278;1683944;1701420;1857125;2146071;2153111;2169717;2183271 A008V15;D11S4431;D11S4651;G19402;PSMA1;RH104341;RH38736;RH69446;SHGC-58344 HC2;HEL-S-275;MGC14542;MGC14575;MGC14751;MGC1667;MGC21459;MGC22853;MGC23915;NU;PROS30 30 kDa prosomal protein;OTTHUMP00000231103;OTTHUMP00000237994;OTTHUMP00000237995;OTTHUMP00000237996;PROS-30;epididymis secretory protein Li 275;macropain subunit C2;macropain subunit nu;multicatalytic endopeptidase complex subunit C2;proteasome (prosome, macropain) subunit, alpha type 1;proteasome component C2;proteasome nu chain;proteasome subunit alpha type-1;proteasome subunit nu;proteasome subunit, alpha-type, 1;protein P30-33K APPROVED protein-coding ENSG00000129084 HGNC:9530 04170 602854 REVIEWED 732188 PSMA3 proteasome (prosome, macropain) subunit, alpha type, 3 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 14 14 14 q23 38761540 38788685 + 58711523 58738727 + 58244805 58272009 + 1580863;6480464;6907045;8554872 10671488;10893419;11139393;11146632;11146634;11205743;11285280;11341940;11350925;12167863;12376572;12379479;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12826010;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14667819;14674694;14702039;14733938;15029244;15225636;15231747;15302935;15489334;15592455;15831937;15837734;15887188;16130169;16169070;16196087;16207813;16390870;16503656;16713569;16964243;17081983;17189198;17314511;17323924;17353931;17573772;17948026;18029348;18276110;18313384;18781797;18854154;18922472;18971267;19013454;19056867;19193609;19208651;19412159;19596235;19738201;20086099;20098747;2025653;20308078;21108816;21135093;21139048;21145461;21320693;21565611;21853274;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22079093;22113938;22268729;22505724;22623428;22863883;22939629;23000965;23438482;23503661;23602568;23824909;23851495;24244684;24250222;24722188;24816145;25015289;25027693;7811265;7857283;8619999;8811196;8889548;9079628;9311996;9451443;9811770;9846577 5684 G3V3W4;G3V4X5;G3V5N4;H0YJ03;P25788 ABBA01018254;ABBA01018255;ABBA01018256;AK315158;AL132989;AMYH02029274;AMYH02029275;AMYH02029276;BC005265;BC029402;BC038990;BG703488;BT006711;BT019715;CF128376;CH471061;CR456933;D00762;DB520127;NM_002788;NM_152132;NR_038123 AAH05265;AAH29402;AAH38990;AAP35357;AAV38520;ABM83571;ABM86809;BAA00659;BAG37603;CAG33214;EAW80715;EAW80716;EAW80717;EAW80718;EAW80719;EAW80720;EAW80721;EAW80722;NP_002779;NP_687033;P25788 Hs.558799 1651400;1794172;1855151;1855153;1856607;2143099;2160216;5120958 PMC310823P11;RH17928;RH69274;RH78140;SHGC-30923;SHGC-32634;SHGC-34645;SHGC-64015 HC8;MGC12306;MGC32631;PSC3 OTTHUMP00000179019;OTTHUMP00000245040;OTTHUMP00000245108;macropain subunit C8;multicatalytic endopeptidase complex subunit C8;proteasome (prosome, macropain) subunit, alpha type 3;proteasome component C8;proteasome subunit C8;proteasome subunit alpha type-3 APPROVED protein-coding ENSG00000100567 HGNC:9532 01463 176843 REVIEWED 1353003 PSMA7P proteasome (prosome, macropain) subunit, alpha type, 7 pseudogene 9 9 9 q22.32 68856743 68857148 - 98415142 98415547 - 95652860 95653265 - 158441 ABBA01043610;AL354861;AMYH02021279;NG_002333 pseudo HGNC:20631 INFERRED 734293 PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 1 p13 108213830 108238396 - 109941653 109969108 - 109399031 109426486 - 1580863;6480464;6907045 10363657;10527805;10893419;11205743;11285280;11771738;11877445;12167863;12376572;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;1286667;12914693;12920286;12970355;14499622;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;15029244;15225636;15302935;15489334;15887188;16196087;16251969;16341674;16503656;16583711;16710414;16964243;17189198;17314511;17323924;17558393;17573772;18029348;18781797;18854154;1888762;18922472;19013454;19056867;19193609;19471022;19596235;19738201;19941857;20160352;20383146;20639865;21081666;21139048;21145461;21319273;21565611;21726808;21832049;21853274;21890473;21900206;21906983;21963094;21987572;22505724;22863883;22939629;23000965;23438482;23443559;23503661;23824909;24583282;24720748;25015289;7811265;8125298;8811196;9079628;9092538;9311996;9464850;9530635;9811770;9846577 5686 P28066 ABBA01068377;AK124307;AK225990;AK304448;AK313351;AL356735;AL390252;AMYH02001711;BC018605;BC102018;BC102019;BC102020;BC103751;BG743267;BI825400;BM793388;BT019717;CH471122;CR456847;DC320780;DC324021;DC324498;H08369;NM_001199772;NM_001199773;NM_001199774;NM_002790;X61970 AAI02019;AAI02020;AAI02021;AAI03752;AAV38522;BAG36153;BAG65266;CAA43962;CAG33128;EAW56381;EAW56382;EAW56383;NP_001186701;NP_001186702;NP_001186703;NP_002781;P28066 Hs.485246 1682838;1706792;1717641;1735978;1771281;2134958;2150466;2164449;5019743 A009N30;D1S1985E;G32685;RH122125;RH64702;SHGC-75262;SHGC-75266;SHGC-80868;WI-14018 FLJ42315;MGC117302;MGC125802;MGC125803;MGC125804;PSC5;ZETA OTTHUMP00000013792;macropain subunit zeta;macropain zeta chain;multicatalytic endopeptidase complex zeta chain;proteasome (prosome, macropain) subunit, alpha type 5;proteasome alpha 5 subunit;proteasome component 5;proteasome subunit alpha type-5;proteasome subunit zeta;proteasome zeta chain APPROVED protein-coding ENSG00000143106 HGNC:9534 01464 176844 REVIEWED 732886 PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq, Jul 2008] 7 7 7 p13 42946778 42962112 - 42956460 42971805 - 42916861 42932206 - 1580863;6480464;6907045 10436176;10893419;10930447;10973495;10983987;11205743;11285280;12167863;12376572;12419264;12446740;12477932;12690205;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;12972570;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14733938;15029244;15225636;15489334;15592455;15660529;15837734;15887188;16098527;16196087;16344560;16503656;16548883;16759355;16777052;17139257;17189198;17207965;17314511;17323924;17353931;17573772;17948026;18775730;18781797;18854154;1888762;18922472;19013454;19056867;19193609;19596235;19738201;19815544;19840444;2025653;20811636;20937868;20972266;20980621;21139048;21145461;21565611;21726808;21853274;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22505724;22863883;22939629;23000965;23026050;23438482;23503661;23658844;23824909;24250222;24337577;24583282;25015289;7558012;7811265;7966316;8125298;8635518;8811196;9079628;9311996;9811770;9846577 5683 C9JCK5;F8WEG3;H7C3A7;H7C402;P25787;Q6MZI6 ABBA01058178;AC010132;AK222976;AK290654;AMYH02015604;AU120930;BC002900;BC047697;BX641097;CB990982;CH236951;CH471073;CR450317;D00760;D10758;HB870625;HC928034;NM_002787 AAH02900;AAH47697;ADQ33065;BAA00657;BAD96696;BAF83343;CAE46046;CAG29313;CBF59431;CBU84675;EAL24005;EAW94151;EAW94152;EAW94153;NP_002778;P25787 Hs.333786 1674591;1774350;2175261;5015619;5037552 D11S3114;D8S2279;RH17359;RH36115;RH36520 HC3;MU;PMSA2;PSC2 OTTHUMP00000159096;OTTHUMP00000207364;OTTHUMP00000207366;OTTHUMP00000238414;macropain subunit C3;multicatalytic endopeptidase complex subunit C3;proteasome (prosome, macropain) subunit, alpha type 2;proteasome component C3;proteasome subunit HC3;proteasome subunit alpha type-2 APPROVED protein-coding ENSG00000106588 HGNC:9531 08907 176842 REVIEWED 1349882 PSMA8 proteasome (prosome, macropain) subunit, alpha type, 8 ENCODES a protein that exhibits endopeptidase activity (inferred); threonine-type endopeptidase activity (inferred); INVOLVED IN anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (inferred); antigen processing and presentation of exogenous peptide antigen via MHC class I (inferred); antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (inferred); PARTICIPATES IN ubiquitin/proteasome degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; nucleus; spermatoproteasome complex (ortholog); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 1H-pyrazole (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 18 18 18 q11.2 20528304 20584262 + 23713816 23773319 + 26133852 26193355 + 1580863;6480464;6907045;8554872 11285280;12376572;12477932;12791267;15489334;16177791;17948026;19941857;21139048;21890473;21906983;21963094;21987572;22505724;22659184;22939629;23000965;23585552;24024966 143471 F5GY34;Q8TAA3 ABBA01022583;ABBA01022584;AC016839;AC091021;AMYH02034453;BC021713;BC025389;BC025393;BC028371;BC028686;BC042820;BC047355;CH471088;EF445014;HB870715;HC928124;NM_001025096;NM_001025097;NM_144662;XM_005258199 AAH21713;AAH28371;AAH28686;AAH42820;ACA06053;CBF59476;CBU84720;EAX01214;EAX01215;EAX01216;NP_001020267;NP_001020268;NP_653263;Q8TAA3;XP_005258256 Hs.464813 1685271;1707690;1792108;1792370;1793876;1794924;1795044 PMC137126P1;PMC149466P9;PMC303366P3;PMC85091P1;PMC89807P1;RH70434;SHGC-82018 MGC26605;PSMA7L proteasome subunit alpha type-7-like protein-coding ENSG00000154611 HGNC:22985 11322 VALIDATED 737158 PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012] 20 20 20 q13.33 57446966 57453645 - 60711783 60718514 - 62136727 62143458 - 1580863;6480464;6907045 10436176;10748218;10893419;10930447;11042152;11205743;11262608;11285280;11361004;11389899;11713272;11780052;12167863;12376572;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;14733938;14759258;14998988;15029244;15221960;15225636;15489334;15635413;15887188;15987638;16009940;16196087;16251969;16337594;16503656;16678104;16759355;17189198;17202780;17203973;17314511;17323924;17353931;17499743;17506986;17558393;17573772;17646385;17699672;17948026;18202793;18313384;18775730;18781797;18854154;18922472;19013454;19062718;19193609;19362550;19416853;19442227;19596235;19734229;19738201;19815544;20029029;20479273;20542005;20811636;21139048;21145461;21256111;21565611;21832049;21853274;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22505724;22584585;22623428;22863883;22939629;22990118;23000965;23438482;23503661;23602568;23725357;23824909;23839082;24163370;24583282;24816145;7811265;7857283;8764072;8811196;8889548;9079628;9311996;9464850;9811770;9846577 5688 H0Y586;O14818 ABBA01040106;AF022815;AF054185;AK127210;AK312025;AL078633;AMYH02037414;BC001895;BC004427;BC014999;BG575009;BI258951;BI906714;BT007165;BU632089;BU687782;CH471077;HB870813;HC928222;HY039591;NM_002792 AAB81515;AAC99402;AAH04427;AAH14999;AAP35829;ABM84680;ABM92206;BAG34962;CBF59525;CBU84769;EAW75398;EAW75399;EAW75400;NP_002783;O14818 Hs.233952 5015861;5113202;7185938 D10S16;RH11614 C6;HSPC;MGC3755;RC6-1;XAPC7 OTTHUMP00000031449;OTTHUMP00000031450;OTTHUMP00000031453;proteasome (prosome, macropain) subunit, alpha type 7;proteasome subunit RC6-1;proteasome subunit XAPC7;proteasome subunit alpha 4;proteasome subunit alpha type-7 APPROVED protein-coding ENSG00000101182 HGNC:9536 05967 606607 REVIEWED 5129012 PSMA6P4 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 4 13 13 13 q32.1 78975363 78976285 + 98127957 98128879 + 97475703 97476625 + 121906 ABBA01027162;AL442067;AMYH02028550;CH471085;NG_023173 EAX08976 1708148 SHGC-79320 pseudo HGNC:39609 INFERRED 2291820 PSMB11 proteasome (prosome, macropain) subunit, beta type, 11 Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cylinder in 4 heteroheptameric rings: alpha-1 to -7, beta-1 to -7, beta-1 to -7, and alpha-1 to -7. The catalytic subunits are beta-1 (PSMB6; MIM 600307), beta-2 (PSMB7; MIM 604030), and beta-5 (PSMB5; MIM 600306). Three additional subunits, beta-1i (PSMB9; MIM 177045), beta-2i (PSMB10; MIM 176847), and beta-5i (PSMB8; MIM 177046), are induced by gamma-interferon (IFNG; MIM 147570) and are preferentially incorporated into proteasomes to make immunoproteasomes. PSMB11, or beta-5t, is a catalytic subunit expressed exclusively in cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM, Mar 2008] 14 14 14 q11.2 3374068 3375961 + 23511376 23513269 + 23042167 23044060 + 6480464;6907045;8554872 11285280;12791267;14702039;17540904;19289856;21836487;21941364;24293611 122706 A5LHX3;B3KVC3 AB299437;ABBA01061304;AK122797;AL132780;AMYH02028864;NM_001099780 A5LHX3;BAF63540;BAG53735;NP_001093250 Hs.508918 BETA5T;FLJ16369 OTTHUMP00000243391;proteasome subunit beta 5T;proteasome subunit beta type-11;proteasome subunit beta-5t APPROVED protein-coding ENSG00000222028 HGNC:31963 611137 VALIDATED 1353264 PSMB3P proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 12 12 12 q13.2 55700796 55701496 - 56048318 56049018 - 55654534 55655234 - 121131 ABBA01008383;AC009779;AMYH02026546;NG_001533 1651913;1740787 D11S4358;STS-W44512 pseudo HGNC:20633 INFERRED 1316619 PSMB10 proteasome (prosome, macropain) subunit, beta type, 10 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52476864 52479210 - 67968407 67970780 - 67934504 67936877 - 1580863;6480464;6907045;8554872 10329130;10893419;11285280;11745344;12167863;12417987;12419264;12477932;12519221;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;15029244;15342556;15356131;15489334;15887188;16169070;16341674;17506986;17541830;17948026;18694960;19193609;19403671;19913121;20628086;20937868;21139048;21890473;21900206;21906983;21963094;22018786;22412388;22505724;22939629;23018640;24816145;25015289;8125298;8268911;8666937;8811196;8889548;9079628;9551082;9811770;9846577 5699 J3QQN1;P40306 ABBA01025467;AC040162;AK225658;AK298012;AK312208;AMYH02032244;BC017198;BC052369;BM845639;BM981173;BP289065;BT019723;BT019724;CH471092;CR456982;HI580885;NM_002801;X71874;Y13640 AAH17198;AAH52369;AAV38528;AAV38529;BAG35141;BAG60316;CAA50709;CAA73982;CAG33263;CBX46811;EAW83187;NP_002792;P40306 Hs.9661 1674557;5016729;5124279 RH65000;RH79694;WI-20243 FLJ00366;LMP10;MECL1;MGC1665;beta2i OTTHUMP00000174858;low molecular mass protein 10;macropain subunit MECl-1;multicatalytic endopeptidase complex subunit MECl-1;proteasome MECl-1;proteasome catalytic subunit 2i;proteasome subunit MECL1;proteasome subunit beta 7i;proteasome subunit beta type-10;proteasome subunit beta-2i APPROVED protein-coding ENSG00000205220 HGNC:9538 01465 176847 REVIEWED 1626564 PSMB3P2 proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 2 2 2 2 q35 211242864 211243630 - 217474994 217475750 - 216610286 216611061 - 9847074 130700 ABBA01062820;AC073321;AMYH02005762;NG_001538 pseudo HGNC:30150 INFERRED 734194 PSMB3 proteasome (prosome, macropain) subunit, beta type, 3 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. The 26 S proteasome may be involved in trinucleotide repeat expansion, a phenomenon which is associated with many hereditary neurological diseases. Pseudogenes have been identified on chromosomes 2 and 12. Alternative splicing results in multiple transcript variants [provided by RefSeq, Sep 2013] 17 17 17 q12 33569961 33581439 + 36908978 36920484 + 38752713 38764231 + 1580863;6480464;6907045 10409428;10893419;11205743;11285280;11329013;12167863;12376572;12419264;12477932;12719574;12727839;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;1286667;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14733938;15029244;15146197;15489334;15887188;16196087;17110338;17189198;17314511;17323924;17353931;17506986;17573772;17671210;17948026;18922472;19013454;19056867;19193609;19596235;19615732;19738201;19815544;20000738;20080206;20972266;21139048;21145461;21289309;21565611;21625534;21853274;21890473;21906983;21963094;21987572;21988832;22505724;22863883;22939629;23000965;23503661;23620289;23637351;23824909;24163370;24816145;7811265;7918633;8811196;9079628;9344661;9811770;9846577 5691 P49720 ABBA01031901;ABBA01031902;AC006449;AMYH02033364;BC013008;BG184666;BG942618;BQ428285;CH471152;CN412852;D26598;NM_002795;NR_104194;NR_104195 AAH13008;BAA05645;EAW60531;NP_002786;P49720 Hs.82793 1338202;1651913;1740787 D11S4358;D17S1851;STS-W44512 HC10-II;MGC4147 OTTHUMP00000164161;proteasome (prosome, macropain) subunit, beta type 3;proteasome chain 13;proteasome component C10-II;proteasome subunit beta type-3;proteasome theta chain APPROVED protein-coding ENSG00000277791 HGNC:9540 03709 602176 REVIEWED 732759 PSMB2 proteasome (prosome, macropain) subunit, beta type, 2 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 1 p34.2 34343105 34381638 - 36040259 36107445 - 35599541 35641844 - 1580863;6480464;6907045 10436176;10893419;11205743;11285280;12167863;12376572;12419264;12456675;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;1286667;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14733938;15029244;15489334;15887188;1602151;16196087;16341674;16710414;17189198;17323924;17506986;17573772;17948026;18029348;18781797;18922472;19013454;19056867;19193609;19471022;19596235;19738201;19946888;21139048;21565611;21660142;21853274;21890473;21906983;21963094;21987572;21988832;22505724;22623428;22863883;22939629;23000965;23503661;23602568;24244684;24337577;24816145;25015289;7811265;7918633;8811196;8889548;9079628;9344661;9811770;9846577 5690 B7Z478;P49721 AB209470;ABBA01023336;ABBA01023337;AI025755;AK296956;AK310023;AL157951;AL354864;AL357035;AMYH02000768;AMYH02000769;AV762678;BC000268;BC101836;BC105126;BC107901;BM664618;BM849239;BT007137;CH471059;CR456862;D26599;NM_001199779;NM_001199780;NM_002794 AAI01837;AAI05127;AAI07902;AAP35801;ABM84465;ABM87798;BAA05646;BAD92707;BAH12464;CAG33143;EAX07406;EAX07407;EAX07408;NP_001186708;NP_001186709;NP_002785;P49721 Hs.471441 1648113;1732529;2124883;2161275;5014063;5015619;5020948;5022450;5037552;5109281 D10S275;D11S3114;D15S1390;D1S1425;D6S939;D8S2279;G35510;SHGC-35307;SHGC-74572;SHGC-74576 HC7-I;MGC104215;MGC126885 OTTHUMP00000004345;macropain subunit C7-I;multicatalytic endopeptidase complex subunit C7-1;multicatalytic endopeptidase complex subunit C7-I;proteasome (prosome, macropain) subunit, beta type 2;proteasome beta 2 subunit;proteasome component C7-I;proteasome subunit beta type-2;proteasome subunit, beta type, 2 APPROVED protein-coding ENSG00000126067 HGNC:9539 03708 602175 REVIEWED 733154 PSMB1 proteasome (prosome, macropain) subunit, beta type, 1 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008] 6 6 6 q27 171639464 171657679 - 170844204 170862417 - 170535116 170553329 - 1580863;6480464;6907045 10527805;10893419;11205743;11285280;12167863;12376572;12419264;12477932;12525704;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;14499622;14527406;14528300;14528301;14550573;14557625;14564014;14574404;14614829;14702039;14732874;14733938;15029244;15231747;15342556;15489334;15848047;15887188;16196087;17110338;17189198;17314511;17323924;17353931;17506986;17573772;17948026;18029348;18775730;18781797;18922472;19013454;19056867;19193609;19549367;19596235;19738201;19815544;2025653;20530491;20558726;21135093;21139048;21565611;21726808;21853274;21890473;21906983;21963094;21980299;21987572;22053931;22505724;22623428;22863883;22939629;2306472;23275444;23443559;23503661;23504381;23544109;23549871;23725357;23824909;23924720;24163370;24816145;7558012;7811265;7966316;8125298;8811196;9079628;9311996;9811770;9846577 5689 P20618 AB209078;AB451312;AB451442;ABBA01030857;AK023290;AK058050;AK223193;AL008628;AL031259;AMYH02015013;BC000508;BC020807;BP369175;BQ685374;BT019720;CH471051;D00761;D14668;NM_002793 AAH00508;AAH20807;AAV38525;ABW03473;ABW03780;BAA00658;BAD92315;BAD96913;BAG70126;BAG70256;EAW47420;EAW47421;EAW47422;EAW47423;NP_002784;P20618 Hs.352768 1683064;1695770;1855780;5014051;5037552;5124996 D8S2278;D8S2279;RH17360;RH79599;RH93445;SHGC-82534 FLJ25321;HC5;KIAA1838;PMSB1;PSC5 OTTHUMP00000017708;macropain subunit C5;multicatalytic endopeptidase complex subunit C5;proteasome (prosome, macropain) subunit, beta type 1;proteasome beta 1 subunit;proteasome component C5;proteasome gamma chain;proteasome subunit HC5;proteasome subunit beta type-1 APPROVED protein-coding ENSG00000008018 HGNC:9537 03603 602017 REVIEWED 7382812 PSMB7P1 PSMB7 pseudogene 1 14 14 14 478979 479494 + 20617391 20617906 + 20149232 20149747 + 100422289 ABBA01061220;AL163152;AMYH02028816;NG_027332 pseudo HGNC:49192 INFERRED 1344491 PSMB4 proteasome (prosome, macropain) subunit, beta type, 4 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq, Jul 2008] 1 1 1 q21 124487307 124489678 + 151372041 151374412 + 151399565 151401936 + 1580863;6480464;6907045 10436176;10893419;11205743;11285280;11438941;11571290;12097147;12167863;12376572;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;1286667;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;15029244;15231748;15489334;15592455;15660529;15887188;16027165;16130169;16196087;16707496;17110338;17189198;17314511;17323924;17948026;18029348;18504423;18775730;18922472;19013454;19193609;19596235;19851296;20000738;20198315;20379614;20639865;20810900;21139048;21145461;21320693;21565611;21726808;21832049;21853274;21890473;21906983;21963094;21987572;21988832;22053931;22505724;22863883;22939629;23000965;23026050;2306472;23503661;23559827;23720494;23824909;24291262;24720748;24816145;7811265;7918633;8013624;8811196;9079628;9311996;9344661;9344905;9636170;9811770;9846577 5692 P28070 ABBA01049394;AK294149;AK313825;AL589764;AMYH02001881;BC000331;BC008314;BC010088;BC010098;BC011768;BC012168;BC017307;BC017451;BC017486;BT006917;CH471121;CR456820;D26600;NM_002796;S71381 AAB31085;AAP35563;ABM81674;ABM82946;ABM86138;BAA05647;BAG36560;BAG57474;CAG33101;EAW53442;NP_002787;P28070 Hs.89545 1712242;1808916;1810378;1818620;1819820;1842608;1926296;1926298;1926300;1926302;1926304;1926306;1926308;1926310;1926312;1926314;1926316;1926318;1926320;1926322;1926324;1926326;1926328;1926330;1926332;1926334;2131921;2191045;2207718;2207720 ECD05441;ECD06181;ECD10374;ECD10980;ECD22511;G54029;MARC_13789-13790:1006804989:3;REN33974;REN33975;REN33976;REN33977;REN33978;REN33979;REN33980;REN33981;REN33982;REN33983;REN33984;REN33985;REN33986;REN33987;REN33988;REN33989;REN33990;REN33991;REN33992;REN33993;RH64651;stSG627163;stSG627164 HN3;HsN3;PROS-26;PROS26 26 kDa prosomal protein;OTTHUMP00000014463;hsBPROS26;macropain beta chain;multicatalytic endopeptidase complex beta chain;proteasome beta chain;proteasome chain 3;proteasome subunit HsN3;proteasome subunit beta type-4;proteasome subunit, beta type, 4 APPROVED protein-coding ENSG00000159377 HGNC:9541 03710 602177 REVIEWED 1349289 PSMB6 proteasome (prosome, macropain) subunit, beta type, 6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 17 17 17 p13 4714866 4717199 + 4699439 4701798 + 4796144 4798503 + 1580863;6480464;6907045 10893419;11205743;11285280;11745344;12167863;12376572;12388758;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14733938;15029244;15489334;15887188;16169070;16196087;17323924;17948026;18457437;18854154;1888762;18922472;19013454;19056867;19193609;19615732;19738201;21139048;21145461;21319273;21320693;21536885;21565611;21890473;21906983;21963094;21987572;22190034;22505724;22623428;22659184;22863883;22939629;23018640;2306472;23503661;24816145;7811265;7820546;8066462;8811196;9079628;9311996;9811770;9846577 5694 I3L3X7;P28072;Q6IAT9 ABBA01054775;AC109333;AC233723;AK311768;AMYH02032834;BC000835;BF671774;BM553399;BQ691763;BT009809;BU848746;CH471108;CR457065;D29012;NM_001270481;NM_002798;X61971 AAH00835;AAP88811;ABM82142;ABM85325;BAA06098;BAG34711;CAA43963;CAG33346;EAW90407;NP_001257410;NP_002789;P28072 Hs.77060 1725727;1736688;2170709 D17S1509E;G62058;STS-AA009788 LMPY;MGC5169;Y DELTA;OTTHUMP00000115982;PSY large multifunctional protease Y;macropain delta chain;multicatalytic endopeptidase complex delta chain;proteasome catalytic subunit 1;proteasome delta chain;proteasome subunit Y;proteasome subunit beta 6;proteasome subunit beta type-6;proteasome subunit delta APPROVED protein-coding ENSG00000142507 HGNC:9543 02630 600307 REVIEWED 7247806 PSMB8-AS1 PSMB8 antisense RNA 1 (head to head) ASSOCIATED WITH Melanoma (inferred) 6 6 32811863 32814277 + 32844086 32846500 + 8554872 19913121;20628086 100507463 ABBA01038132;AL669918;AL671681;AL935043;AMYH02013475;BI906764;BU539272;BX088556;BX927138;CK904130;CR753889;CR762476;CR933844;CR977230;CT009502;HG499159;HG499161;HG499162;NG_028165;NR_037173;NR_037174;NR_037175;NR_037176 Hs.731555 PSMB8-AS1;TAP1-AS1;TAPSAR1 APPROVED ncrna ENSG00000204261 HGNC:39758 VALIDATED 735704 PSMB5 proteasome (prosome, macropain) subunit, beta type, 5 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] 14 14 14 q11.2 3357950 3367323 - 23485752 23504429 - 23016543 23035220 - 1580863;6480464;6907045 10692467;10816564;10893419;11205743;11285280;11745344;12167863;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14612418;14614829;14733938;14743216;15029244;15231747;15488952;15489334;15887188;15944226;16196087;16263121;17189198;17207965;17262013;17314511;17323924;17353931;17506986;17573772;17948026;18303054;18502982;18519783;18562081;18565852;18711014;18781797;18922472;19013454;19056867;19193609;19243813;19426847;19596235;19615732;19738201;20007692;20555361;20811636;20980621;21081666;21139048;21145461;21289309;21565611;21628461;21853274;21890473;21906983;21920470;21963094;21978467;22118674;22505724;22523338;22781773;22863883;22939629;23000965;23018640;2306472;23443559;23503661;23602568;23824909;24393841;24457600;24627483;25015289;7811265;7820546;7864893;8066462;8125298;8753855;8811196;9079628;9311996;9382924;9811770;9846577 5693 G3V3K3;G8JLC2;H0YJM8;P28074 ABBA01061302;ABBA01061303;AK225888;AK300714;AK311895;AL132780;AMYH02028864;BC057840;BC107720;BT006777;BU539357;BU632351;BX248299;BX538001;CD048996;CH471078;KF455837;NM_001130725;NM_001144932;NM_002797;S74378;X95586;XM_005267871 AAB33092;AAH57840;AAI07721;AAP35423;ADQ33015;BAG34836;BAG62391;CAA64838;CAD62626;CAD97956;EAW66193;EAW66194;EAW66195;NP_001124197;NP_001138404;NP_002788;P28074;XP_005267928 Hs.422990 1754371;1773947;2186031;2217860 HUM00D0F11;PSMB5_3419;SHGC-132389;WI-7398 LMPX;MB1;MGC104214;X OTTHUMP00000027926;OTTHUMP00000245990;OTTHUMP00000245993;PSX large multifunctional protease X;macropain epsilon chain;multicatalytic endopeptidase complex epsilon chain;proteasome (prosome, macropain) subunit, beta type 5;proteasome beta 5 subunit;proteasome catalytic subunit 3;proteasome chain 6;proteasome epsilon chain;proteasome subunit MB1;proteasome subunit X;proteasome subunit beta type-5;proteasome subunit, beta type, 5 APPROVED protein-coding ENSG00000100804 HGNC:9542 02629 600306 REVIEWED 732115 PSMB7 proteasome (prosome, macropain) subunit, beta type, 7 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012] 9 9 9 q34.11-q34.12 97762981 97824932 - 127115744 127177752 - 124353465 124415473 - 1580863;6480464;6907045 10384092;10893419;11205743;11285280;11295498;11745344;12167863;12376572;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;14733938;15029244;15489334;15592455;15887188;16169070;16196087;16423992;17323924;17573772;17948026;18378283;18462727;18549262;18768472;18922472;19193609;19645816;20010949;20379614;20723761;20736409;21139048;21565611;21693764;21713324;21726808;21853274;21890473;21906983;21963094;21987572;21988832;22118674;22505724;22863883;22939629;23000965;23275563;23438482;23443559;23503661;23535732;24163370;24816145;7811265;8125298;8666937;8811196;9079628;9311996;9811770;9846577 5695 E9KL30;Q5TBG5;Q99436 ABBA01043744;ABBA01043745;ABBA01043746;AJ420455;AK056654;AK098757;AK223007;AK223356;AK303460;AK308756;AK314302;AL137846;AMYH02021626;BC000509;BC008414;BC017116;BT007218;CH471090;CR456721;D38048;GU727627;NM_002799 AAH00509;AAH17116;AAP35882;ADU87629;BAA07238;BAD96727;BAD97076;BAG36956;BAG64503;CAG33002;EAW87582;EAW87583;NP_002790;Q99436 Hs.213470 1643979;1646603;1647935;1667033;1715281;1735872;1787074;2148112;2167111;2169709;2171053;2172202;2175049;2183865;2183867;2186693;2191815 A003A40;A006A17;Cda0vc07;D9S1698;D9S1989;D9S997E;G20648;MARC_8227-8228:996688432:1;RH11482;RH11599;RH119892;RH12239;RH70504;RH77983;SGC33089;SHGC-154753;WI-15624 Z OTTHUMP00000022798;macropain chain Z;multicatalytic endopeptidase complex chain Z;proteasome catalytic subunit 2;proteasome subunit Z;proteasome subunit alpha;proteasome subunit beta 7;proteasome subunit beta type-7 APPROVED protein-coding ENSG00000136930 HGNC:9544 04940 604030 REVIEWED 1348724 PSMC1P1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 1 3 3 3 p14.1 68621070 68622627 + 68684836 68686393 + 68635685 68637242 + 151645 ABBA01030895;AC096922;AMYH02007009;NG_001556 PSMC1P;bcm3415 protease (prosome, macropain) 26s subunit, atpase, 1 pseudogene APPROVED pseudo HGNC:30147 INFERRED 737219 PSMB9 proteasome (prosome, macropain) subunit, beta type, 9 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010] 6 6 6 p21.3 34370831 34376521 + 32821927 32827628 + 32854161 32859851 + 1580863;6480464;6483350;6483349;6482263;6483362;6483495;6483462;6483441;6483446;6483332;6482249;6483444;1578358;6483364;6483439;6483440;6907045 11717249;11782352;12189117;14551602;14684867;14750179;15603870;17581627;17609424;19492245;19924240;20174631;22034108;22363101;9496154 10329130;10816564;10893419;10924276;11139393;11285280;11602734;11737038;11745344;11772516;11775239;11788900;11819535;12167863;12209365;12225333;12419264;12477932;12519221;12648225;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;1429565;14527406;14528300;14528301;1453454;14550573;14557625;14564014;14574404;14614829;14733938;15029244;15284441;1529427;15489334;15686587;15887188;16222703;16224524;16396320;16423992;16512786;16703666;1681432;16957778;17142736;17491658;17506986;17948026;18248301;18694960;18985028;19148137;19193609;19202550;1922385;19404951;19526842;19833746;19851445;19913121;20153157;20300807;20470844;20525414;20628086;20937868;21139048;21303409;21399633;21529441;21853274;21890473;22041443;22261389;22287277;22355695;22505724;22659265;22705098;22925930;22939629;22944692;22993228;23018640;23266558;23360169;23568741;24040045;24809174;24816145;7811265;7829535;8206875;8568858;8666937;8811196;9003765;9079628;9311996;9367687;9811770;9846577 5698 A2ACQ9;A2ACR0;A2ACR1;B4DZW2;P28065 ABBA01038132;AI310206;AK303118;AL669918;AL671681;AL935043;AMYH02013475;BC065513;BF513693;BI832878;BM998687;BX088556;BX641100;BX927138;CH471081;CR541656;CR753889;CR762476;CR933844;NM_002800;S75169;U01025;X62741;X66401;X87344;Z14977 AAC50154;AAC60646;AAH65513;BAG64224;CAA44603;CAA47024;CAA60784;CAA78700;CAG46457;EAX03653;EAX03654;NP_002791;P28065 Hs.654585 1744593;1791590;2146436 GDB:543001;LMP2;PMC115886P1 LMP2;MGC70470;PSMB6i;RING12;beta1i OTTHUMP00000029423;OTTHUMP00000178622;OTTHUMP00000178623;large multifunctional peptidase 2;low molecular mass protein 2;macropain chain 7;multicatalytic endopeptidase complex chain 7;proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2);proteasome catalytic subunit 1i;proteasome chain 7;proteasome subunit beta 6i;proteasome subunit beta type-9;proteasome subunit beta-1i;proteasome-related gene 2;proteosome (prosome, macropain) subunit, beta type 9;really interesting new gene 12 protein APPROVED protein-coding HGNC:9546 01514 177045 REVIEWED 731895 PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34357387 34361605 - 32808494 32812712 - 32840717 32844935 - 1331525;1580863;6480464;6907045;8699517;8554872 15118671 10329130;10358150;10657252;10893419;10926487;10975991;11051286;11285280;11494532;11669176;11737038;11745344;11772516;11793848;12167863;12209365;12225333;12419264;12477932;12519221;12648225;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;1429565;14527406;14528300;14528301;1453454;14550573;14551602;14557625;14564014;14574404;14614829;14702039;15029244;15231747;1529427;15303969;15356131;15488952;15489334;15603870;15887188;15907481;15944226;16224524;16338279;16341674;16396320;16423992;17142736;17491658;17506986;17525827;17581627;17703412;17948026;18248301;19037255;19065646;19148137;19193609;19202550;1922342;19258923;19403671;19404951;19443843;19526842;19619915;19851445;19913121;20153157;20331378;20470844;20503287;20525414;20628086;20937868;21129723;21139048;21303409;21362330;21399633;21529441;21804012;21852578;21853274;21881205;21953331;22037870;22505724;22863883;22925930;22939629;23018640;23283737;7498531;7811265;8206875;8344725;8458375;8550087;8568858;8666937;8811196;9079628;9157092;9271825;9311996;9811770;9846577 5696 P28062;Q5JNW7;X5CMJ9 AA807046;ABBA01038132;AK300962;AL669918;AL671681;AL935043;AMYH02013475;AW242683;BC001114;BG547344;BG760674;BM547457;BM781620;BX088556;BX682530;BX927138;CH471081;CR541661;CR753889;CR762476;CT009502;NG_028165;NM_004159;NM_148919;U17496;U17497;U32862;U32863;X62598;X66401;X87344;XM_005275000;Z14982 AAA56777;AAA56778;AAA80234;AAA80235;AAH01114;BAH13383;CAA44482;CAA47026;CAA60786;CAA60787;CAA78705;CAA78706;CAG46462;EAX03644;EAX03645;NP_004150;NP_683720;P28062;XP_005275057 Hs.180062 1650655;1665671;1744595;1769403;1855746;2132926;2135216;2135218;2151965 D6S2042;D6S2125;GDB:545427;LMP7;RH46725;RH46789;RH69680;RH70734;RH70842 ALDD;D6S216;D6S216E;JMP;LMP7;MGC1491;NKJO;PSMB5i;RING10;beta5i OTTHUMP00000029420;OTTHUMP00000029421;OTTHUMP00000178621;large multifunctional peptidase 7;low molecular mass protein 7;low molecular weight protein 7;macropain subunit C13;multicatalytic endopeptidase complex subunit C13;protease component C13;proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7);proteasome catalytic subunit 3i;proteasome component C13;proteasome subunit Y2;proteasome subunit beta 5i;proteasome subunit beta type-8;proteasome subunit beta-5i;proteasome-related gene 7;proteosome (prosome, macropain) subunit, beta type 8;really interesting new gene 10 protein APPROVED protein-coding ENSG00000204264 HGNC:9545 01515 177046;256040 REVIEWED 5130571 PSMC1P13 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 13 13 13 13 51370028 51371543 - 70467988 70469523 - 69893856 69895391 - 100422305 ABBA01050310;AL353738;AMYH02028216;NG_024865 pseudo HGNC:39788 INFERRED 5130601 PSMC1P12 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 12 1 1 1 p12 117387916 117389446 - 119156735 119158291 - 118614112 118615668 - 644094 ABBA01068507;AL139148;AL606843;AMYH02001807;NG_022737 1692752;1782848;2155482 AL009735;AL034140;SHGC-142377 pseudo HGNC:39787 INFERRED 5130613 PSMC1P2 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 2 7 7 7 p15.2 27489610 27495538 + 27501304 27502808 + 27461685 27463189 + 442291 ABBA01056771;AC073150;AMYH02015415;CH236948;NG_008641 pseudo HGNC:39777 INFERRED 5130617 PSMC1P10 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 10 2 2 2 p24.2 17446001 17447541 + 17566339 17567879 + 17385072 17386612 + 388925 ABBA01018510;AC092843;AMYH02003340;NG_021557 1784246 SHGC-156145 pseudo HGNC:39785 INFERRED 5130600 PSMC1P7 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 7 3 3 3 q26.1 159468858 159470389 - 161046493 161048050 - 161328705 161330262 - 646085 ABBA01058789;AC128652;AMYH02008031;NG_022226 1749895 SHGC-111622 pseudo HGNC:39782 INFERRED 5130616 PSMC1P8 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 8 12 12 12 p12.3 22679811 22681317 - 17536051 17537592 - 17383117 17384658 - 390297 ABBA01067917;AC048352;AMYH02026114;NG_021683 pseudo HGNC:39783 INFERRED 5130614 PSMC1P11 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 11 6 6 6 p25.1 5931256 5932789 + 4702676 4704209 + 4702442 4703975 + 442153 ABBA01022000;AL356747;AMYH02013015;NG_022341 2138952 D6S2167 pseudo HGNC:39786 INFERRED 5130615 PSMC1P3 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 3 7 7 7 q33 131137700 131139285 + 136398573 136400158 + 136713826 136715411 + 392100 ABBA01001135;AC108510;AMYH02016834;CH236950;NG_009401 pseudo HGNC:39778 INFERRED 5130618 PSMC1P4 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 4 5 5 5 q11.2 52524563 52526162 - 55570903 55572500 - 56275076 56276673 - 345645 ABBA01015762;AC016638;AMYH02011328;CH471123;NG_022936 EAW54947 pseudo HGNC:39779 INFERRED 5130445 PSMC1P9 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 9 12 12 12 p12.3 23991198 23992742 + 18845685 18847229 + 18692751 18694295 + 20308432;22118674 643668 ABBA01067924;AC087242;AMYH02026126;NG_021707 pseudo HGNC:39784 INFERRED 5130602 PSMC1P6 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 6 3 3 3 p11.2 88432316 88433870 - 87679228 87680815 - 87630078 87631665 - 643766 ABBA01004630;AC108749;AMYH02007214;NG_022211 pseudo HGNC:39781 INFERRED 1352639 PSMC3P proteasome (prosome, macropain) 26S subunit, ATPase, 3 pseudogene 9 9 9 p22.1 18953079 18954383 + 19026885 19028189 + 19026887 19028191 + 9048938 5703 ABBA01065223;AL356000;AMYH02019255;NG_002368 1678251 RH91482 pseudo HGNC:9550 INFERRED 732077 PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 47582015 47589718 - 47440320 47448024 - 47418769 47426473 - 1580863;6480464;6907045 10339605;10799514;10806355;10893419;11032911;11139393;11285280;11463857;12167863;12419264;12477932;12551928;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;1429620;14527406;14528300;14528301;14550573;14556007;14557625;14564014;14610662;14614829;14665636;14743216;15029244;15221960;15342556;15489334;15591046;15831487;15876874;16169070;16196087;16239144;16335966;16713569;16763564;16969126;17148452;17220478;17314511;17323924;17334400;17353931;17558393;17573772;17649721;17709345;18029348;18781797;18854154;18922472;19013454;19193609;19269966;19325002;19349277;19490896;19535905;19615732;19815544;19853614;19946888;20007692;20351748;20431057;20473970;20479273;20810900;20843792;21110914;21139048;21628461;21675959;21853274;21874050;21890473;21906983;2194290;21963094;21987572;21988832;21991300;22072791;22079093;22118674;22268729;22275368;22505724;22586326;22659184;22797925;22863883;22939629;23000965;23022100;23438482;23503661;23563607;23798571;23824909;24255178;24337577;24583282;24654937;24811749;24816145;25027693;8125298;8323548;8419915;8500623;8621709;8811196;9048938;9079628;9345291;9464850;9473509;9714759;9811770;9846577 5702 E9PKD5;E9PLG2;E9PM69;E9PMD8;E9PMW0;E9PN50;E9PS45;P17980;R4GNH3 ABBA01060713;ABBA01060714;AC090559;AK222485;AK291896;AK313518;AMYH02024731;BC008713;BC073165;BC106920;BC107804;BP284685;CH471064;CR456731;M34079;NM_002804 AAA36666;AAH08713;AAH73165;AAI06921;AAI07805;ABM83907;ABM87228;BAD96205;BAF84585;BAG36298;CAG33012;EAW67916;NP_002795;P17980 Hs.250758 1678251;1686160;2178018;5491623 MARC_26198-26199:1039556289:1;RH70251;RH91482;RH98825 MGC8487;TBP-1;TBP1 26S protease regulatory subunit 6A;26S proteasome AAA-ATPase subunit RPT5;OTTHUMP00000236492;OTTHUMP00000236493;OTTHUMP00000236494;Tat-binding protein 1;human immunodeficiency virus tat transactivator binding protein-1;proteasome (prosome, macropain) 26s subunit, atpase 3;proteasome 26S subunit ATPase 3;proteasome subunit P50 APPROVED protein-coding ENSG00000165916 HGNC:9549 01733 186852 REVIEWED 734425 PSMC1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008] 14 14 14 q32.11 70770035 70786113 + 90722894 90738969 + 90256550 90272622 + 6480464;6907045 10625621;10748218;10893419;10970867;11285280;11361004;11734547;12167863;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;1429620;14527406;14528300;14528301;14550573;14557625;14564014;14578856;14614829;14702039;14743216;15029244;15144186;15358861;15489334;15610744;15831487;15837734;16045761;16159877;16189514;16196087;16239144;16335966;17148452;17203973;17323924;17353931;17370265;17573772;18029348;18701681;18775730;18781797;18922472;19013454;19060904;19193609;19490896;19535905;19546213;19589775;19615732;19850743;19946888;20379614;20424172;20473970;20479273;20562859;20639865;20810900;20843792;21139048;21145461;21628461;21693764;21726808;21832049;21853274;21890473;21900206;21906983;21963094;21987572;22118674;22145905;22268729;22275368;22505724;22863883;22921402;22939629;22948515;22952844;23000965;23438482;23455924;23503661;23824909;23851495;24654937;24816145;6188845;8125298;8811196;9079628;9452483;9473509;9811770;9846577 5700 G3V4X1;P62191;Q53XL8 AB451311;AB451441;ABBA01030503;AF401213;AK124201;AK222668;AK299121;AK313325;AL161662;AL355074;AMYH02029722;BC000512;BC016368;BC018859;BC067741;BC073818;BT009826;CH471061;CR457044;L02426;NM_002802 AAA35484;AAH00512;AAH16368;AAH67741;AAH73818;AAP88828;ABM82629;ABM85807;BAD96388;BAG36130;BAG61175;BAG70125;BAG70255;CAG33325;EAW81419;EAW81420;EAW81421;NP_002793;P62191 Hs.356654 2153283;2173972;5093780 A009W30;G32920;SGC34848 MGC24583;MGC8541;P26S4;S4;p56 26S protease regulatory subunit 4;26S proteasome AAA-ATPase subunit RPT2;OTTHUMP00000244896;OTTHUMP00000244898;protease (prosome, macropain) 26s subunit, atpase 1;proteasome 26S ATPase subunit 1;proteasome 26S subunit ATPase 1;proteasome 26S subunit, ATPase, 1 APPROVED protein-coding ENSG00000100764 HGNC:9547 04084 602706 REVIEWED 1343106 PSMC6P1 proteasome 26S subunit, ATPase, 6 pseudogene 1 8 8 8 q12.1 52954075 52955610 - 56962240 56963775 - 56049681 56051216 - 15262430 266723 ABBA01041758;AC046176;AMYH02018018;NG_002379 1680477;1685387;1694790 G43615;RH68060;RH80771 PSMC6P APPROVED pseudo HGNC:20634 INFERRED 732741 PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 17 17 17 q23.3 56292931 56297508 + 61904770 61909387 + 63827410 63832027 + 6480464;6484676;6907045 19471584 10409732;10753654;10776788;10799514;10816420;10893419;10970867;11278995;11285280;11361004;11463857;11734547;12110588;12167863;12419264;12477932;12503607;12676955;12692129;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12963825;12970355;1429620;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;14702340;14706819;15029244;15342556;15489334;15610744;15831487;15867431;15885686;16159877;16189514;16196087;16236267;16239144;16344560;16432160;16499872;16707496;16713569;16957778;16990800;17203973;17224908;17302910;17323924;17353931;17429597;17558393;17565987;17573772;17623298;17646385;18029348;18086887;18215421;18247557;18303054;18330356;18572193;18662994;18781797;18854154;18922472;18986984;19013454;19056867;19144644;19193609;19490896;19535905;19589775;19615732;19660582;19781552;19815544;19946888;20085538;20178748;20351748;20424172;20431057;20473970;20479273;20562859;20810900;20843792;21081666;21139048;21145461;21319273;21628461;21726808;21853274;21890473;21906983;2194290;21963094;21987572;21988832;22053931;22078707;22118674;22268729;22275368;22486777;22496558;22505724;22586326;22771340;22797925;22863883;22939629;22990118;23000965;23022198;23032291;23398456;23402259;23438482;23503661;23703321;23824326;23824909;24482233;24528651;24720748;24816145;25027693;7729537;7776974;7870181;8323548;8419915;8500623;8598193;8603043;8619474;8710853;8811196;9048938;9079628;9110174;9173976;9295362;9464850;9473509;9620878;9714759;9811770;9831079;9846577;9927201 5705 J3KRP2;J3KTQ9;J3QLH6;J3QQM1;J3QRR3;J3QRW1;J3QSA9;J3QSE0;P62195 ABBA01035319;AC015651;AF035309;AI193169;AK095836;AK098484;AK290758;AK291878;AMYH02033780;BC001932;BC002367;BC127888;BF245599;BP209525;CH471109;D44467;DA056321;L38810;NM_001199163;NM_002805;XM_006721980 AAB88187;AAC41735;AAH01932;AAH02367;ABM83122;ABM86317;BAA07919;BAF83447;BAF84567;EAW94269;EAW94270;EAW94271;EAW94272;NP_001186092;NP_002796;P62195;XP_006722043 Hs.79387 1739463;1773615;1791528;2135167;2135169;2189395 D17S1654;MARC_4113-4114:991938380:3;PMC113761P5;RH36133;RH36220;SGC30177 S8;SUG-1;SUG1;TBP10;TRIP1;p45;p45/SUG 26S protease regulatory subunit 8;26S proteasome AAA-ATPase subunit RPT6;MSUG1 protein;Tat-binding protein homolog 10;for proteasomal atpase (sug1);proteasome 26S ATPase subunit 5;proteasome 26S subunit ATPase 5;proteasome subunit p45;thyroid hormone receptor-interacting protein 1;thyroid receptor interactor 1 APPROVED protein-coding ENSG00000087191 HGNC:9552 03400 601681 REVIEWED 2293178 PSMC6P3 proteasome 26S subunit, ATPase, 6 pseudogene 3 5 5 5 p13.2 33859431 33861505 + 33970959 33973033 + 33970854 33972928 + 100128218 ABBA01066761;AC139783;AMYH02011144;NG_007662;NG_011691 1781094;7186223 D5S1430 pseudo HGNC:34012 INFERRED 730859 PSMC3IP PSMC3 interacting protein This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011] 17 17 17 q21.2 37380262 37385646 - 40724328 40729849 - 42572310 42577831 - 6480464;8699517;7240710;8554872 10806355;11739747;12477932;14702039;16407260;18941885;19325002;21963259;24097974;7490091;9345291 29893 K7EK12;K7ELD8;K7EQS1;K7ERB6;Q9P2W1 AB030304;ABBA01006420;AC067852;AF440240;AK126369;AMYH02033430;BC008792;BI115923;CH471152;DB494067;FJ952179;FJ952180;FJ952181;FJ952182;FJ952183;GQ851964;GQ851965;NG_031960;NM_001256014;NM_001256015;NM_001256016;NM_013290;NM_016556;NR_045669;NR_045670;NR_045671;U18921 AAH08792;AAL33609;ACR46654;ACR46655;ACR46656;ACR46657;ACR46658;ACX30903;ACX30904;BAA92872;EAW60846;EAW60847;EAW60848;EAW60849;EAW60850;NP_001242943;NP_001242944;NP_001242945;NP_037422;NP_057640;Q9P2W1 Hs.383019 1656606;1694514;1734484;1770051 D17S1440E;D17S1663;G43000;STS-U18014 GT198;HOP2;HUMGT198A;ODG3;TBPIP DBD-interacting;GT198 alternative;PSMC3-interacting protein;TBP-1 interacting protein;TBP-1-interacting protein;homologous-pairing protein 2 homolog;nuclear receptor coactivator GT198;proteasome 26S ATPase subunit 3-interacting protein;tat-binding protein 1-interacting protein APPROVED protein-coding ENSG00000131470 HGNC:17928 16362 608665;614324 REVIEWED 732979 PSMC2 proteasome (prosome, macropain) 26S subunit, ATPase, 2 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2011] 7 7 7 q22.1-q22.3 97795300 97815873 + 102984852 103009842 + 103344405 103369395 + 1580863;6480464;6907045 10409732;10625621;10893419;11118325;11118327;11285280;11361004;11734547;12167863;12419264;12477932;12665801;12690205;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12853948;12859895;12914693;12920286;12938929;12970176;12970355;1377363;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14743216;15029244;15231748;15340068;15489334;15610744;15782218;15831487;15953362;1602151;16130169;16169070;16189514;16196087;16210410;16236267;16239144;16335966;16341674;16712842;17148452;17203973;17220478;17314511;17323924;17353931;17558393;17573772;17623298;18029348;18457437;18781797;18922472;19013454;19193609;19380743;19412159;19490896;19589775;19615732;19815544;20178748;20351748;20542005;20562859;20639865;20682791;20810900;20843792;21139048;21145461;21628461;21726808;21733848;21767633;21853274;21890473;21906983;21963094;21987572;22053931;22078707;22118674;22268729;22275368;22505724;22586326;22623531;22797925;22863883;22921402;22939629;22952844;23000965;23254330;23260144;23438482;23503661;23824909;24429290;24457600;24654937;24811749;24816145;25027693;7711076;8500623;8811196;8889548;9079628;9295362;9464850;9473509;9811770;9846577 5701 B7Z571;C9JLS9;P35998 AB075520;ABBA01057987;ABBA01057988;AC004668;AC093701;AK298529;AK298821;AK312648;AMYH02016449;AMYH02016450;BC002589;BE269755;BM754312;BU675889;CH236947;CH471070;D11094;NM_001204453;NM_002803;XM_005250505 AAH02589;AAS07429;ABZ92232;BAA01868;BAE45763;BAH12807;BAH12878;EAL24412;EAW83331;EAW83332;EAW83333;NP_001191382;NP_002794;P35998;XP_005250562 Hs.437366 1337591;1775653;2147014;2176493;5124391;5126931 D7S2509;PSMC2;RH11504;RH69239;RH80487;SGC32632 MGC3004;MSS1;Nbla10058;S7 26S protease regulatory subunit 7;26S proteasome AAA-ATPase subunit RPT1;OTTHUMP00000211710;OTTHUMP00000211711;OTTHUMP00000211712;mammalian suppressor of sgv-1 of yeast;protease 26S subunit 7;proteasome (prosome, macropain) 26s subunit, atpase 2;proteasome 26S subunit ATPase 2;proteasome 26S subunit, ATPase, 2;putative protein product of Nbla10058 APPROVED protein-coding ENSG00000161057 HGNC:9548 01105 154365 REVIEWED 731556 PSMC4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 19 19 19 q13.11-q13.13 37275447 37285724 + 40476912 40487671 + 39971005 39981764 + 1580863;6480464;6907045;8554872 10893419;11042152;11285280;11361004;11463857;11779854;12167863;12419264;12477932;12525503;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;15029244;15057824;15489334;15604093;15610744;15773819;15831487;16159877;16189514;16196087;16335966;17110338;17203973;17314511;17323924;17327361;17353931;17573772;17786314;18029348;18446261;18854154;18922472;19013454;19193609;19412159;19490896;19615732;19781552;19946888;20562859;20682791;20810900;20843792;20937828;21081666;21110914;21139048;21145461;21320693;21628461;21726808;21853274;21890473;21906983;2194290;21979464;21987572;21988832;22053931;22078707;22079093;22118674;22275368;22370480;22505724;22651796;22797925;22863883;22912744;22939629;22944692;23000965;23184937;23402259;23438482;23443559;23503661;24250222;24816145;8060531;8076819;8323548;8419915;8500623;8603043;9079628;9473509;9714759;9811770;9846577 5704 A8K2M0;P43686 ABBA01040737;ABBA01040738;AC007842;AC245507;AF020736;AF038965;AK290285;AK310135;AK313183;BC000343;BC010396;BC014488;BC018811;BI828251;BT007232;CH471126;NM_006503;NM_153001;U27515;XR_430205 AAC26843;AAC32612;AAC99817;AAD39267;AAH00343;AAH10396;AAH14488;AAP35896;ABM82801;ABM85802;BAF82974;BAG36000;EAW56928;EAW56929;NP_006494;NP_694546;P43686 Hs.211594 1690398;2185020 RH98237;STS-T26522 MGC13687;MGC23214;MGC8570;MIP224;RPT3;S6;TBP-7;TBP7 26S protease regulatory subunit 6B;26S proteasome AAA-ATPase subunit RPT3;MB67 interacting protein;MB67-interacting protein;Tat-binding protein 7;protease 26S subunit 6;proteasome 26S subunit ATPase 4 APPROVED protein-coding ENSG00000013275 HGNC:9551 04085 602707 REVIEWED 2290507 PSMD10P2 proteasome 26S subunit, non-ATPase, 10 pseudogene 2 3 3 3 q27.3 184915359 184918072 + 186478900 186481614 + 186761111 186763825 + 21700879 280644 ABBA01058383;AC112907;AMYH02008350;NG_002417 1649990 A002Q09 pseudo HGNC:30151 INFERRED 1343089 PSMD10P1 proteasome 26S subunit, non-ATPase, 10 pseudogene 1 20 20 20 q13.13 46234512 46235392 + 49530252 49531132 + 50913715 50914595 + 170541 ABBA01052790;AL034553;AMYH02037247;NG_001050;NG_034200 PSMD10P;dJ914P20.4 pseudo HGNC:16602 INFERRED 736379 PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011] X X X q22.3 107798909 107806320 - 107327435 107334874 - 108084205 108091644 - 1580863;6480464 10613832;10893419;11285280;11779854;11900540;12167863;12174370;12419264;12477932;12525503;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14573599;14614829;14997555;15029244;15221469;15379554;15489334;15772651;15910504;16023600;16196087;16239144;17323924;17353931;17881001;17904523;17935131;18029348;18040287;18161051;18332869;18813787;19235584;19287195;19349277;19412159;19490896;19513507;19615732;19729910;19736567;19901563;20371329;20479760;20483533;20628200;21139048;21254169;21287809;21691299;21868508;21890473;21906983;21988832;22053931;22118674;22230478;22387393;22797925;22863883;22890318;22913272;22913315;22939629;23000965;23100276;23276718;23503661;23508981;23576566;23751493;24037855;24337075;24338975;8811196;9009162;9079628;9714768;9811770;9846577 5716 B1AJY5;B1AJY6;B1AJY7;O75832 AB009619;ABBA01035973;AK058108;AK295996;AK309326;AL031177;AMYH02040220;AY057056;BC011960;BI114640;BQ217943;BT019689;CH471120;D83197;GM044604;NG_012521;NM_002814;NM_170750;R15438 AAH11960;AAL25260;AAV38495;ACT64478;ACT64479;BAA33215;BAA34594;BAG58771;CAV33747;EAX02697;EAX02698;NP_002805;NP_736606;O75832 Hs.522752 1643764;1649990;1796582 A002Q09;PSMD10_464;RH44542 dJ889N15.2;p28;p28(GANK) 26S proteasome non-ATPase regulatory subunit 10;26S proteasome regulatory subunit p28;OTTHUMP00000023827;OTTHUMP00000023828;OTTHUMP00000023830;OTTHUMP00000023831;OTTHUMP00000023832;ankyrin repeat protein;gankyrin;hepatocellular carcinoma-associated protein p28-II APPROVED protein-coding ENSG00000101843 HGNC:9555 04594 300880 REVIEWED 2291755 PSMD10P3 proteasome 26S subunit, non-ATPase, 10 pseudogene 3 13 13 13 q21 54509003 54509463 + 73610523 73610983 + 73036385 73036845 + 338091 ABBA01050340;AL354720;AMYH02028254;NG_002627 pseudo HGNC:30152 INFERRED 1318819 PSMC6 proteasome (prosome, macropain) 26S subunit, ATPase, 6 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008] 14 14 14 q22.1 33041500 33062289 + 53173894 53194716 + 52707176 52727998 + 6480464;6907045 10363644;10419517;10893419;11285280;11361004;11590019;11734547;12167863;12419264;12477932;12499840;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;15029244;15489334;15610744;15782218;15831487;16189514;16196087;16239144;16335966;16341674;16501559;17148452;17203973;17314511;17323924;17353931;17573772;18029348;18781797;18922472;19056867;19193609;19269966;19412159;19490896;19615732;19738201;19815544;19946888;20478047;20479273;20682791;20890303;21081666;21139048;21145461;21151955;21319273;21320693;21890473;21906983;21963094;21987572;22053931;22108332;22118674;22268729;22275368;22505724;22797925;22863883;22939629;22952844;23000965;23125841;23190606;23438482;23503661;23535732;23602568;24583282;24720748;24816145;25015289;25027693;8621709;8674546;8811196;9079628;9464850;9473509;9811770;9846577 5706 H0YJC0;H0YJD2;H0YJE9;H0YJS8;H0YJT1;H0YJW2;H0YJX2;H0YJY8;P62333 AA846884;ABBA01018168;ABBA01018169;AF006305;AK127456;AK299155;AK307087;AK313670;AL133453;AMYH02029193;BC005390;BM788029;BP384173;BT006843;CH471078;CQ840920;CR456709;D78275;FJ224299;NM_002806;XR_245706 AAB61616;AAH05390;AAP35489;ABM84630;ACI45991;BAA11338;BAG36422;BAG61203;CAG32990;CAH05701;EAW65645;NP_002797;P62333 Hs.156171 1650726;1674171;1680477;1685387;1694790;2154939;2181905 D14S1297;G35668;G35813;G43615;RH68060;RH80771;SHGC-59941 CADP44;HEL-S-73;MGC12520;P44;SUG2;p42 26S protease regulatory subunit 10B;26S protease regulatory subunit S10B;26S proteasome AAA-ATPase subunit RPT4;OTTHUMP00000179002;OTTHUMP00000245246;conserved ATPase domain protein 44;epididymis secretory protein Li 73;proteasome 26S subunit ATPase 6;proteasome subunit p42 APPROVED protein-coding ENSG00000100519 HGNC:9553 04086 602708 REVIEWED 2291756 PSMC6P2 proteasome 26S subunit, ATPase, 6 pseudogene 2 12 12 12 q15 68531266 68532456 + 68867511 68868701 + 68473731 68474921 + 160410 ABBA01026559;AC008033;AMYH02026694;NG_001564 pseudo HGNC:30149 INFERRED 2291786 PSMD12P proteasome 26S subunit, non-ATPase, 12 pseudogene 3 3 3 p14 72859974 72861491 - 72925820 72927337 - 72876669 72878186 - 317753 ABBA01030955;AC114876;AMYH02007063;NG_002463 pseudo HGNC:30153 INFERRED 1315018 PSMD14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012] 2 2 2 q24.2 155776557 155880315 + 162164786 162268228 + 161308275 161411717 + 1580863;6480464;6907045;9480236;8661242 19609968;24002223 11285280;12477932;12791267;12938929;14702039;14737182;15029244;15489334;15592455;16196087;16239144;16344560;16569633;17237285;17323924;17353931;17573772;18029348;18162577;18775730;18781797;18922472;19013454;19193609;19214193;19349277;19380743;19412159;19419512;19471022;19615732;19732767;19781552;19815544;20058232;20656689;21139048;21726808;21733848;21906983;21963094;21987572;21988832;22053931;22118674;22505724;22863883;22909820;22939629;23000965;23438482;23503661;23751493;24429290;24654937;8889548;9374539 10213 C9JW37;O00487 AB209220;ABBA01004885;ABBA01004886;AC009299;AC009487;AK055128;AMYH02005088;AMYH02005089;BC009524;BC066336;BM978668;CH471058;DA133201;NM_005805;U86782 AAC51866;AAH09524;AAH66336;AAX88940;AAY15016;BAD92457;BAG51474;EAX11370;NP_005796;O00487 Hs.740477 1650478;1681054;1681853;1708774;1730373;2171417 Bda94c06;D2S197E;RH36560;RH65098;RH91306;SHGC-81625 PAD1;POH1;RPN11 26S proteasome non-ATPase regulatory subunit 14;26S proteasome regulatory subunit rpn11;26S proteasome-associated PAD1 homolog 1;OTTHUMP00000204560 APPROVED protein-coding ENSG00000115233 HGNC:16889 06208 607173 REVIEWED 2306587 PSMD2P1 proteasome 26S subunit, non-ATPase, 2 pseudogene 1 1 1 1 q43 213561039 213563919 - 240305810 240308319 - 240142510 240145019 - 266783 ABBA01033230;AL359918;AMYH02003017;NG_002387 1676400;1725711;1777222 G62053;RH65279;T03659 pseudo HGNC:30154 INFERRED 1348717 PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 61909217 61935322 - 65336619 65362721 - 67340503 67366605 - 1580863;6480464;6907045 10893419;11285280;12167863;12419264;12477932;12665801;12719574;12750511;12783882;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;1317798;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;14743216;15029244;15489334;15840729;16196087;16239144;16501559;17323924;17353931;17558393;17573772;18775730;18854154;18922472;19013454;19056867;19193609;19615732;19815544;19946888;20890303;21110914;21139048;21693764;21726808;21890473;21906983;21963094;21987572;22118674;22586326;22797925;22863883;22939629;23000965;23402259;23438482;23503661;23751493;23824909;24457600;24816145;25027693;8125298;8811196;9079628;9426256;9811770;9846577 5718 J3KSK1;J3KTJ5;O00232 AB003103;ABBA01029000;ABBA01029001;AC110921;AK091198;AK222679;AK307821;AK308883;AMYH02033841;BC019062;BC065826;CH471099;NM_002816;NM_174871 AAH19062;AAH65826;ABM83747;ABM87066;BAA19749;BAD96399;BAG52303;EAW89026;EAW89027;EAW89028;EAW89029;NP_002807;NP_777360;O00232 Hs.592689 1669774;1673737;1766113;2140816;2160230;2160467;2174578;2181763;5092866 A009B18;D17S1531;G32380;RH11827;RH47845;RH78277;RH78404;SHGC-149497;SHGC-56750 MGC75406;Rpn5;p55 26S proteasome non-ATPase regulatory subunit 12;26S proteasome regulatory subunit RPN5;26S proteasome regulatory subunit p55;OTTHUMP00000179135;OTTHUMP00000179136 APPROVED protein-coding HGNC:9557 05120 604450 REVIEWED 1322945 PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012] 17 17 17 q21.1 34797134 34814283 + 38137021 38154213 + 39980768 39997960 + 1580863;6480464;6907045;8554872 10893419;11285280;12167863;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;14743216;15029244;15147878;15489334;15610744;15829507;16051665;16196087;16239144;17314511;17323924;17353931;17563742;17573772;18775730;18781797;18922472;19013454;19056867;19193609;19471022;19615732;19738201;19946888;20139978;20172861;20473970;21081666;21139048;21319273;21320693;21738478;21738480;21829568;21890473;21906983;21963094;21987572;22037903;22053931;22108332;22118674;22268729;22623428;22788528;22863883;22939629;23000965;23125841;23254330;23303871;23438482;23503661;23751493;23824909;23851495;24515614;24654937;24816145;8811196;9017604;9079628;9811770;9846577 5709 F5H8K4;H0YGV8;O43242 AA143716;ABBA01031851;AC090844;AF091075;AK022896;AK054611;AK055358;AK055799;AK094206;AK293539;AK298411;AK300081;AK300973;AMYH02033390;AMYH02033391;BC000074;BC004859;BC012302;BC020518;BC025686;BT007217;CH471152;CR456772;D67025;HY034626;NM_002809 AAC72944;AAH00074;AAH04859;AAH12302;AAH20518;AAH25686;AAP35881;ADZ15576;BAA23651;BAB71019;BAC04310;BAG51131;BAG51399;BAG57021;BAG60639;BAG61884;BAG62596;CAG33053;EAW60625;NP_002800;O43242 Hs.12970 1686542;1858189;2161637 D19S1091;RH93398;WIAF-1618 P58;RPN3;S3;TSTA2 26S proteasome non-ATPase regulatory subunit 3;26S proteasome regulatory subunit RPN3;26S proteasome regulatory subunit S3;OTTHUMP00000164347;proteasome subunit p58;tissue specific transplantation antigen 2 APPROVED protein-coding ENSG00000108344 HGNC:9560 10170 REVIEWED 1313146 PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 306187 322313 - 236808 252984 + 236808 252984 + 1580863;6480464;6907045;8554872 10225435;10393949;10893419;11042152;11285280;12167863;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;14743216;15029244;15489334;15610744;16196087;16239144;16501559;17059877;17323924;17353931;17573772;18775730;18922472;19013454;19193609;19380743;19615732;19738201;19815544;19946888;21139048;21890473;21906983;21963094;21987572;22053931;22139419;22505724;22797925;22863883;22939629;23000965;23166591;23438482;23503661;23751493;24026423;24654937;24816145;24849605;25027693;8125298;8811196;9079628;9714768;9811770;9846577 5719 B4DJ66;E9PL38;E9PPD2;E9PQG3;F8W8J6;H0YD73;J3KNQ3;Q9UNM6 AA931044;AB009398;ABBA01011167;AC136475;AF083245;AF086708;AF107836;AF107837;AF261927;AK092845;AK094775;AK222895;AK295944;AK307447;AK314733;AL556906;AMYH02024127;BC001100;BC001747;BM456586;BT007307;BX647314;CH471278;NM_002817;NM_175932 AAC64104;AAD39843;AAD43441;AAD43442;AAH01100;AAH01747;AAP35971;ABM83097;ABM86291;BAA33214;BAD96615;BAG37274;BAG52927;BAG58728;CAI46009;EAW61234;EAW61235;EAW61236;EAW61237;EAW61238;NP_002808;NP_787128;Q9UNM6 Hs.134688 1733722;2111308;2173870;2217862;5015961 D11S2071;D11S576;D15S1477;PSMD13_2898;STS-T99644 HSPC027;Rpn9;S11;p40.5 26S proteasome non-ATPase regulatory subunit 13;26S proteasome regulatory subunit RPN9;26S proteasome regulatory subunit S11;26S proteasome regulatory subunit p40.5;26S proteasome subunit p40.5;OTTHUMP00000147614;OTTHUMP00000230665;OTTHUMP00000230666;OTTHUMP00000230668;OTTHUMP00000230669 APPROVED protein-coding ENSG00000185627 HGNC:9558 04595 603481 VALIDATED 1350425 PSMD4P1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 pseudogene 1 21 21 21 q22.13 23056531 23058087 - 37858168 37859730 - 36485870 36487432 - 10830953 54035 ABBA01057398;AMYH02037783;AP000695;AP001726;NG_002723;NG_011777 PSMD15;PSMD4P APPROVED pseudo HGNC:9562 INFERRED 734297 PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 124342487 124355245 + 151227176 151239955 + 151254700 151267479 + 6480464;6907045 10488153;10505793;10799514;10893419;10903862;10921894;11146632;11285280;11585840;11827521;12095625;12167863;12419264;12477932;12601813;12634850;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12832454;12840737;12859895;12914693;12920286;12938929;12970176;12970355;14527406;14528300;14528301;14550573;14557549;14557625;14564014;14585839;14614829;14621999;14759258;15029244;15095410;15147878;15280365;15340068;15345747;15358145;15489334;15610744;15826667;16007098;16105547;16171779;16189514;16196087;16227581;16239144;16678104;16710414;16759355;16762342;16799550;16815440;16862145;16990800;17082820;17139257;17323924;17327906;17353931;17368669;17408689;17459097;17573772;17623810;17646385;17662948;17891176;17949686;18079109;18164080;18207252;18485873;18632645;18781797;18836575;18922472;18976975;19013454;19193609;19240029;19285159;19349277;19387488;19412159;19471022;19519434;19589775;19615732;19683493;19781552;19796170;19815544;19875440;19931242;20007692;20029029;20059542;20195357;20417181;20473970;20479273;20526895;20542005;20614012;20639865;20682791;20810900;20936779;20972266;21139048;21145461;21348451;21628408;21628461;21693764;21832049;21853274;21855799;21890473;21906983;21963094;21987572;21988832;22053931;22118674;22268729;22350919;22434192;22505724;22517668;22645313;22659184;22661229;22797925;22863883;22906049;22921402;22939629;22990118;23000965;23254330;23314748;23402259;23438482;23459205;23503661;23515276;23649778;23751493;23831032;23940030;23966401;24074603;24196352;24250289;24256120;24429290;24583282;24654937;24816145;25015289;25118285;3524692;7657640;8570649;8641424;8811196;9079628;9235903;9488668;9811770;9846577 5710 A6PVX3;H0Y3Y9;H0Y561;H7C2J9;P55036;Q5VWC4 AB033605;ABBA01049387;ABBA01049388;AL391069;AL592424;AMYH02001876;AMYH02001877;BC002365;BC072008;CH471121;NG_029700;NM_002810;U24704;U72664;XM_005245354;XM_006711464 AAB54057;AAB68598;AAH02365;AAH72008;ADZ15739;BAA97581;EAW53455;EAW53456;EAW53457;EAW53458;NP_002801;P55036;XP_005245411;XP_006711527 Hs.505059 1656551;1693226;1799116;1799200;1799952;1808408;1823466;1835756;1838710;1842360;1842752;1925170;1925172;1925174;1925176;1925178;1925180;1925182;1925184;1925186;1925188;1925190;1925192;1925194;1925196;1925198;1925200;1925202;1925204;1925206;1925208;1925210;1925212;1925214;1925216;1925218;1925220;1925222;1925224;1925226;1925228;1925230;1925232;1925234;1925236;1925238;1925240;1925242;1925244;1925246;1925248;1925250;1925252;1925254;1925256;1925258;1925260;1925262;1925264;1925266;1925268;1925270;1925272;1925274;1925276;1925278;1925280;1925282;1925284;2207546;2207548;2207550;2207552;2207554;2207556;2207558;2207560;5113979;5122690 AL033568;ECD00404;ECD00448;ECD00830;ECD05185;ECD12824;ECD19039;ECD20532;ECD22383;ECD22583;REN33410;REN33411;REN33412;REN33413;REN33414;REN33415;REN33416;REN33417;REN33418;REN33419;REN33420;REN33421;REN33422;REN33423;REN33424;REN33425;REN33426;REN33427;REN33428;REN33429;REN33430;REN33431;REN33432;REN33433;REN33434;REN33435;REN33436;REN33437;REN33438;REN33439;REN33440;REN33441;REN33442;REN33443;REN33444;REN33445;REN33446;REN33447;REN33448;REN33449;REN33450;REN33451;REN33452;REN33453;REN33454;REN33455;REN33456;REN33457;REN33458;REN33459;REN33460;REN33461;REN33462;REN33463;REN33464;REN33465;REN33466;REN33467;RH26962;RH36413;SHGC-52120;stSG627057;stSG627058;stSG627059;stSG627060;stSG627061;stSG627063;stSG627064;stSG627065 AF;AF-1;ASF;MCB1;Rpn10;S5A;pUB-R5 26S protease subunit S5a;26S proteasome non-ATPase regulatory subunit 4;26S proteasome regulatory subunit RPN10;26S proteasome regulatory subunit S5A;OTTHUMP00000014286;OTTHUMP00000014287;RPN10 homolog;S5a/antisecretory factor protein;angiocidin;antisecretory factor 1;multiubiquitin chain binding protein;multiubiquitin chain-binding protein;proteasome (prosome, macropain) 26s subunit, non-atpase,4 APPROVED protein-coding ENSG00000159352 HGNC:9561 03386 601648 REVIEWED 734088 PSMD1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2010] 2 2 2 q37.1 225697090 225813040 + 231921578 232037541 + 231056864 231172827 + 1580863;6480464;6907045;8554872 10671488;10893419;11285280;11361004;12167863;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14743216;15029244;15221960;15231748;15302935;15489334;15610744;15815621;15831487;16097034;16196087;16207813;16239144;16263121;16344560;16501559;16712842;16737963;16964243;16990800;17203973;17323924;17353931;17429597;17573772;18534977;18775730;18781797;18922472;19013454;19193609;19471022;19589775;19615732;19781552;19913121;19946888;20379614;20479273;20628086;20639865;20682791;20723761;20936779;21044959;21081666;21139048;21145461;21151955;21693764;21767633;21890473;21906983;21963094;21987572;22031102;22053931;22079093;22118674;22275368;22505724;22586326;22797925;22863883;22939629;23000965;23275444;23402259;23503661;23602568;23703321;23751493;23851495;24286321;24816145;25015289;25027693;8811196;8816993;8889549;9079628;9733766;9811770;9846577 5707 C9J9M4;F8WCE3;H7BZR6;H7C378;Q99460 AA169719;ABBA01002063;AC009407;AK307415;AK307513;AK312528;AMYH02005963;AMYH02005964;BC001053;BC007535;BC014013;BC020223;BC032445;BC039845;BC047897;BC064398;BC073833;BC094720;BC112344;BC114434;CH471063;D44466;DA385817;NM_001191037;NM_002807;NR_034059 AAH01053;AAH14013;AAH20223;AAH32445;AAH39845;AAH47897;AAH64398;AAH73833;AAH94720;AAI12345;AAI14435;AAX93127;BAA07918;BAG35427;EAW70947;EAW70948;NP_001177966;NP_002798;Q99460 Hs.3887 1648278;1648512;1696258;1734728;1734898;1796032;2117387;2119840;2138818;2139358;2145381;5018035 D2S1517E;D2S1525E;D2S1672E;HTR2B_345;PSMD1;RH36032;RH48937;RH68938;SGC31713;SHGC-12915;SHGC-83635;WI-11730 MGC133040;MGC133041;P112;Rpn2;S1 26S proteasome non-ATPase regulatory subunit 1;26S proteasome regulatory subunit RPN2;26S proteasome regulatory subunit S1;26S proteasome subunit p112;26s proteasome, subunit p112;OTTHUMP00000164295;OTTHUMP00000204737 APPROVED protein-coding ENSG00000173692 HGNC:9554 10169 REVIEWED 1318199 PSMD5 proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012] 9 9 9 q33.2 94226608 94253482 - 123578331 123605299 - 120816053 120843021 - 1580863;6480464 10625621;10893419;11285280;12167863;12419264;12477932;12665801;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;1317798;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;15029244;15489334;16189514;16341674;17148452;17203973;18029348;19013454;19217412;19322201;19412159;19490896;19535905;19589775;19738201;21139048;21832049;21890473;21963094;22863883;22921402;22939629;23000965;23503661;23751493;23824909;24816145;7559544;7584044;8125911;8576261;8811196;9079628;9811770;9846577 5711 F2Z3J2;Q16401;Q4VXG9;Q4VXH0 ABBA01016242;ABBA01016243;ABBA01016244;AK001065;AK026925;AK291051;AK303007;AL161911;AMYH02021571;AMYH02021572;BC014478;BM835267;CH471090;D31889;HY023459;NM_001270427;NM_005047;S79862 AAB35397;AAH14478;ABM83011;ABM86205;BAA06687;BAF83740;BAG64140;EAW87471;NP_001257356;NP_005038;Q16401 Hs.193725 1654746;1679079;1851939;2123531;5020635;5021228;5024413;5109281 D1S1425;D7S3207;GDB:312794;L17877;RH25302;RH35526;SHGC-31585;STS-D31889 KIAA0072;MGC23145;S5B 26S protease subunit S5 basic;26S proteasome non-ATPase regulatory subunit 5;26S proteasome subunit S5B;OTTHUMP00000021990 APPROVED protein-coding ENSG00000095261 HGNC:9563 05121 604452 REVIEWED 1315074 PSMD11 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 17 17 17 q11.2 27681703 27718244 + 30771481 30810337 + 32444463 32483319 + 1580863;6480464;6907045 10893419;11285280;12167863;12185077;12419264;12426099;12477932;12665801;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;1317798;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;15029244;15231748;15342556;15489334;15610744;16169070;16196087;16239144;17081983;17110338;17323924;17353931;17573772;18775730;18922472;19013454;19193609;19380743;19471022;19596235;19615732;19616115;19738201;19815544;19946888;20473970;21081666;21110914;21139048;21319273;21832049;21890473;21906983;21963094;21983832;21987572;22118674;22190034;22797925;22863883;22939629;22952844;22972301;23000965;23022198;23438482;23455924;23503661;23751493;24337577;24515614;24583282;24816145;25027693;8125298;8811196;9079628;9119060;9426256;9811770;9846577 5717 J3KSW3;J3QRY4;J3QS13;O00231 AB003102;ABBA01000717;ABBA01000718;AC005899;AC079336;AF001212;AK093602;AK223196;AK290602;AK300342;AMYH02033319;BC000437;BC004430;BP246240;BQ006240;CH471147;NM_001270482;NM_002815 AAB58732;AAH00437;AAH04430;BAA19748;BAD96916;BAF83291;BAG62087;EAW80229;EAW80230;NP_001257411;NP_002806;O00231 Hs.443379 1675569;1686554;1693266;1701320;1726259;1789012;2120078;2170898;5022200 G42336;G42372;G65638;L18426;RH104290;RH15931;RH78801;RH80424;WI-16331 MGC3844;Rpn6;S9;p44.5 26S proteasome non-ATPase regulatory subunit 11;26S proteasome regulatory subunit 9;26S proteasome regulatory subunit RPN6;26S proteasome regulatory subunit S9;26S proteasome regulatory subunit p44.5;OTTHUMP00000163703 APPROVED protein-coding ENSG00000108671 HGNC:9556 05119 604449 REVIEWED 7246353 PSMD5-AS1 PSMD5 antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 9 9 9 q33.2 94253596 94264918 + 123605320 123616651 + 120843042 120854373 + 6480464;8554872 12477932;14702039 253039 ABBA01016242;AK096706;AK123991;AL117474;AL161911;AMYH02021572;BC028086;BC040969;BC052374;BX648532;HG502382;HG502384;HG502385;HG502387;HG502388;HG502389;NR_024408 Hs.594170 1677550;1684050;1735868;1771418;2120711;2137640;2137642;2140068;2157684;2169511;5016851;5022322;5022651;5037552 D11S2560;D11S2921;D8S2279;D9S993E;RH16375;RH17469;RH69798;RH80031;RH98622;RH98870;SHGC-16719;SHGC-34045;SHGC-35191;STS-H21905 RP11-27I1.2 ncrna ENSG00000226752 HGNC:27367 VALIDATED 6766959 PSMD6-AS2 PSMD6 antisense RNA 2 3 3 3 p14 64006091 64014691 + 63989698 63997919 + 64004022 64012243 + 14702039 100507062 ABBA01024312;AC012557;AI652458;AK021934;AK022323;AK023371;AMYH02006951;HG495726;NR_038286 Hs.152536;Hs.593613 1665905;1773290;2142904;2163250 G15837;SGC30565;SHGC-77025;STS-N50805 RP11-245J9.2 APPROVED ncrna ENSG00000239653 HGNC:44125 VALIDATED 1350935 PSMD7P1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene 1 17 17 17 q24.1 60765782 60766834 + 64193745 64194797 + 66197627 66198679 + 280637 ABBA01029035;AC006120;AMYH02033815;NG_002412 MOV34L;PSMD7L APPROVED pseudo HGNC:7202 INFERRED 5684151 PSMD8P1 proteasome 26S subunit, non-ATPase, 8 pseudogene 1 1 1 1 127458475 127459237 - 154386846 154387608 - 154414370 154415132 - 100422411 ABBA01049484;AL162591;AMYH02001924;NG_026992 pseudo HGNC:34013 INFERRED 1315780 PSMD7 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008] 16 16 16 q22.3 58643945 58653450 + 74330673 74340186 + 74296775 74306288 + 1580863;6480464;6907045 10893419;11285280;11734547;12167863;12237292;12368243;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12944474;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;14743216;15029244;15221960;15383276;15489334;16169070;16196087;16227581;16239144;16396496;16842755;17028202;17207965;17323924;17353931;17559875;17573772;17699672;18775730;18781797;18922472;19013454;19193609;19349280;19471022;19615732;19844255;19850743;19946888;20643764;20656689;20972266;21139048;21693764;21890473;21906983;21963094;21987572;22053931;22078707;2209467;22118674;22190034;22268729;22505724;22797925;22863883;22939629;23000965;23438482;23503661;23751493;24816145;25015289;25027693;6188845;7755639;8811196;9079628;9520381;9811770;9846577 5713 B4DXI8;H3BNT7;H3BQV2;H3BTM8;P51665 ABBA01005301;AC009120;AK301996;AK315381;AMYH02032378;BC000338;BC012606;BM989341;BU601564;CA429667;CH471166;D50063;NM_002811 AAH00338;AAH12606;ADQ32347;BAA08780;BAG37774;BAG63400;EAW59162;EAW59163;NP_002802;P51665 Hs.440604 1657277;2162959;2184751 RH69368;SHGC-58416;STS-R15455 MOV34;P40;Rpn8;S12 26S proteasome non-ATPase regulatory subunit 7;26S proteasome regulatory subunit S12;26S proteasome regulatory subunit rpn8;Moloney leukemia virus-34 proviral integration;Mov34 homolog;OTTHUMP00000174936;proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog);proteasome subunit p40 APPROVED protein-coding ENSG00000103035 HGNC:9565 01147 157970 REVIEWED 1351950 PSMD6 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012] 3 3 3 p14.1 64013003 64025892 - 63996225 64009686 - 64010549 64024010 - 6480464;6907045;8554872 10723133;10893419;11285280;11375929;11745344;12167863;12419264;12477932;12692129;12719574;12750511;12766061;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;14743216;15029244;15221960;15489334;16045761;16196087;16227581;16335966;16344560;16424905;17323924;17353931;17563742;17573772;18775730;18854154;18922472;19013454;19193609;19596235;19615732;20473970;21081666;21139048;21726808;21890473;21906983;21963094;21987572;22118674;22158537;22275368;22473755;22505724;22797925;22863883;22939629;23438482;23503661;23751493;23934736;24258024;24515614;24816145;25027693;7788527;8889548;9079628;9811770;9846577 9861 C9J0E9;C9J7B7;H7C531;Q15008 ABBA01024312;AC012557;AF215935;AF530062;AK054730;AK055210;AK095059;AK290205;AL529900;AL832109;AMYH02006951;AU105740;AY359879;AY568086;BC000630;BC000904;BC012369;BG723464;BM681873;BX647742;CD110455;CD678025;CD692691;CH471055;D14663;DA633802;HY010377;NM_001271779;NM_001271780;NM_001271781;NM_014814;XM_005265618;XM_005265619;XM_006713431 AAF65540;AAH00630;AAH00904;AAH12369;AAQ09946;AAQ63402;AAS68366;BAA03497;BAF82894;BAG52978;EAW65424;EAW65425;EAW65426;EAW65427;NP_001258708;NP_001258709;NP_001258710;NP_055629;Q15008;XP_005265675;XP_005265676;XP_006713494 Hs.152536 1665905;1773290;5037552 D8S2279;SHGC-77025;STS-N50805 KIAA0107;Rpn7;S10;SGA-113M;p42A;p44S10 26S proteasome non-ATPase regulatory subunit 6;26S proteasome regulatory subunit RPN7;26S proteasome regulatory subunit S10;OTTHUMP00000213406;OTTHUMP00000213407;OTTHUMP00000213408;breast cancer-associated protein SGA-113M;phosphonoformate immuno-associated protein 4;proteasome regulatory particle subunit p44S10 protein-coding ENSG00000163636 HGNC:9564 18370 REVIEWED 2290518 PSME2P2 proteasome activator subunit 2 pseudogene 2 13 13 13 q13 30399890 30400664 + 49345232 49346006 + 48771096 48771870 + 338099 ABBA01051010;AL139182;AMYH02028004;NG_002632 1685443 RH65053 pseudo HGNC:30160 INFERRED 737461 PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012] 12 12 12 q24.31-q24.32 121962584 121993388 + 122326637 122355771 + 121888731 121917865 + 1580863;6480464 10567574;10799514;10893419;11285280;11940657;12167863;12419264;12477932;12684681;12719574;12750511;12778072;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;15029244;15146197;15489334;16099819;16189514;16226712;16293776;16341674;16712791;17360176;17409098;17516568;18504423;18694622;18701138;18838534;19041685;19118035;19322201;19490896;19657726;19877155;20069546;20878082;21139048;21439668;21448710;21477582;21496327;21554682;21728808;21813292;21837501;21862167;21871126;21890473;21906983;21988832;22015693;22053931;22134138;22440256;22505724;22863883;22934761;22939629;23000965;23282078;23464457;23503661;23618860;23689538;23824909;24026423;24255178;24648162;24720748;24811749;24816145;25009770;8811196;8889548;9079628;9653651;9811770;9846577 5715 F5GX23;F5H169;F5H5V4;F5H7X1;J3KN29;O00233 ABBA01020190;ABBA01020191;ABBA01020192;ABBA01020193;AC069503;AK055339;AK315389;AMYH02027405;BC002383;BC004184;BC004213;BI832046;BM850893;BU726372;BU956605;CB111716;CH471054;CN260241;CQ840923;FB353533;KF459562;NM_001261400;NM_002813;NR_048555 AAH02383;AAH04184;AAH04213;ABM84520;ACE86443;ACE87119;BAG37782;CAH05702;CAR82351;EAW98293;EAW98294;EAW98295;EAW98296;EAW98297;NP_001248329;NP_002804;O00233 Hs.131151 1798030;2143503;2164290;5020948;5022578;5022588;5022651;5109281 D11S2921;D1S1423;D1S1425;D5S1597E;G35510;PSMD9_1060.2;RH64869;WI-19611 MGC8644;Rpn4;p27 26S proteasome non-ATPase regulatory subunit 9;26S proteasome regulatory subunit p27;OTTHUMP00000239793;OTTHUMP00000239794;OTTHUMP00000239796;OTTHUMP00000239800;OTTHUMP00000239801;homolog of rat Bridge 1;proteasome 26S non-ATPase regulatory subunit 9 APPROVED protein-coding ENSG00000110801 HGNC:9567 04394 603146 REVIEWED 1351981 PSME2P1 proteasome activator subunit 2 pseudogene 1 5 5 5 q21 93434061 93434853 + 97549077 97549869 + 98213373 98214165 + 257093 ABBA01069212;AC116347;AC134821;AC233964;NG_002626 1677382 RH71322 PSME2P pseudo HGNC:20632 INFERRED 2290520 PSME2P3 proteasome activator subunit 2 pseudogene 3 INTERACTS WITH daunorubicin 4 4 4 q32 157269289 157270078 + 159928240 159929029 + 159007088 159007877 + 6480464 9847074 338095 ABBA01070215;AC093700;AMYH02010383;NG_002628 pseudo HGNC:30156 INFERRED 1320403 PSMD8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 35667425 35676701 + 38865190 38874464 + 38374550 38383824 + 1580863;6480464;6907045;8554872 10225950;10893419;11163772;11285280;12167863;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;15029244;15057824;15231748;15342556;15489334;15831487;16196087;16239144;16885229;17323924;17353931;17558393;17786314;18029348;18775730;19013454;19193609;19471022;20004025;20542005;20972266;21139048;21319273;21628461;21693764;21767633;21890473;21906983;21963094;21987572;22118674;22275368;22505724;22797925;22863883;22906049;22939629;22990118;23000965;23438482;23503661;23751493;23824909;24816145;7621825;8811196;9079628;9811770;9846577 5714 K7EJC1;K7EJR3;K7EK21;K7ENY6;K7ERW6;P48556;R4GMR5;V9HW09 ABBA01040680;AC005789;AK301771;AK304486;AK308809;AMYH02036070;BC001164;BC065006;BC071826;BI560993;BP369299;BQ684248;BT019688;CH471126;D38047;EU668354;NM_002812 AAC62833;AAH01164;AAH65006;AAV38494;ACF94507;BAA07237;BAG63230;BAG65296;EAW56785;NP_002803;P48556 Hs.78466 1337182;1668666;2118751;2165421;5113617;7185040;7187612 D19S1131;D19S421;RH11793;RH39050;SGC30294 HEL-S-91n;HIP6;HYPF;MGC1660;Nin1p;Rpn12;S14;p31 26S proteasome non-ATPase regulatory subunit 8;26S proteasome regulatory subunit RPN12;26S proteasome regulatory subunit S14;26S proteasome regulatory subunit p31;OTTHUMP00000198258;epididymis secretory sperm binding protein Li 91n APPROVED protein-coding ENSG00000099341 HGNC:9566 10171 REVIEWED 2291753 PSME2P5 proteasome activator subunit 2 pseudogene 5 8 8 8 p21 25367601 25368381 + 26405185 26405965 + 26547669 26548449 + 338097 ABBA01005572;AC015743;AMYH02017665;NG_002630;NG_030020 pseudo HGNC:30158 INFERRED 1313972 PSMD2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 3 q27.1 182457704 182467523 + 184016886 184026842 + 184299098 184309054 + 1580863;6480464;6907045 10625621;10893419;11278995;11285280;11734547;12167863;12419264;12477932;12692129;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12938929;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;15029244;15489334;15610744;15840729;16169070;16189514;16196087;16239144;16335966;16990800;17081983;17110338;17203973;17220478;17314511;17323924;17353931;17502376;17573772;17646385;18079109;18086887;18274552;18337449;18457437;18544348;18656546;18775313;18775730;18781797;18922472;19013454;19060904;19193609;19269966;19471022;19490896;19546213;19615732;19626040;19638347;19738201;19815544;19881955;19946888;20085233;20473970;20479273;20562859;20614012;20800603;20810900;20972266;21081666;21139048;21145461;21149444;21150319;21151955;21245296;21319273;21320693;21465578;21571647;21693764;21726808;21733848;21853274;21890473;21906983;21963094;21987572;22118674;22145905;22238364;22275368;22434192;22466964;22505724;22586326;22623428;22797925;22863883;22921402;22939629;22952844;23000965;23125841;23166591;23184937;23190606;23438482;23503661;23667555;23751493;23798571;23824909;23862649;23956138;24158444;24256120;24337577;24654937;24657165;24816145;24951540;25027693;7601280;7639698;8774743;8811196;9079628;9126987;9811770;9846577 5708 C9JPC0;F8WBS8;H7C1H2;H7C2Q3;Q13200 AB209843;ABBA01058449;AC078797;AI026024;AK095245;AK297256;AK301759;AK302177;AK315474;AL162014;AMYH02008305;BC002368;BC002997;BC007897;BT009736;CH471052;D78151;HY006627;NM_001278708;NM_001278709;NM_002808;U12596;U18247;X86446 AAA57339;AAA87705;AAH02368;AAH02997;AAH07897;AAP88738;BAA11226;BAD93080;BAG59734;BAG63219;BAG63543;CAA60167;CAB82366;EAW78270;EAW78271;EAW78272;NP_001265637;NP_001265638;NP_002799;Q13200 Hs.518464 1658862;1676400;1725711;1777222;2217864 G62053;PSMD2_2761;RH65279;RH70376;T03659 MGC14274;P97;Rpn1;S2;TRAP2 26S proteasome non-ATPase regulatory subunit 2;26S proteasome regulatory subunit RPN1;26S proteasome regulatory subunit S2;26S proteasome subunit p97;55.11 protein;OTTHUMP00000210627;OTTHUMP00000210628;OTTHUMP00000210629;TNFR-associated protein 2;protein 55.11;tumor necrosis factor receptor-associated protein 2;tumor necrosis factor type 1 receptor-associated protein 2 APPROVED protein-coding ENSG00000175166 HGNC:9559 05870 606223 REVIEWED 2291752 PSME2P6 proteasome activator subunit 2 pseudogene 6 10 10 10 p12 22202364 22202738 + 22514626 22515000 + 22225697 22226071 + 338098 ABBA01034483;AL157831;AMYH02022430;NG_002631 1677382;2191677 MARC_4677-4678:996679594:1;RH71322 pseudo HGNC:30159 INFERRED 2291754 PSME2P4 proteasome activator subunit 2 pseudogene 4 4 4 4 p14 38437369 38438183 - 37997072 37997886 - 37995451 37996265 - 9847074 338096 ABBA01074317;AC021106;AMYH02009033;NG_002629 pseudo HGNC:30157 INFERRED 733032 PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 14 14 14 q11.2 4469848 4472646 + 24605295 24608176 + 24136158 24138967 + 1580863;6480464;6907045;8554872 10199920;10225950;10799514;10893419;11285280;11745344;11922078;12167863;12200048;12419264;12477932;12519221;12719574;12750511;12755701;12791267;12808465;12808466;12809610;12830140;12840737;12859895;1286667;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14760793;15029244;15489334;16130169;16169070;16189514;17323924;17671684;17719568;17939699;18029348;19017543;19193609;19225532;19380743;19403671;20010787;21139048;21832049;21890473;21900206;21987572;22505724;22532226;22797925;22863883;22939629;23000965;23383295;23503661;23624078;23824909;23918357;24429290;24654937;24811749;24816145;7789512;8051173;8269930;8663520;8811196;8889548;9079628;9287111;9325261;9344661;9346951;9385652;9394799;9403698;9590240;9620878;9811770;9846577 5720 H0YKK6;H0YLU2;Q06323;Q86SZ9 AB007137;ABBA01061332;ABBA01061333;AF078829;AI445328;AK307150;AK308572;AK311490;AK312211;AL136295;AMYH02028879;BC000352;BC007503;BJ993879;BM470561;BM981616;BQ060125;BT019337;BU192084;BU731923;BX248293;CH471078;CR456780;CR541658;DQ185047;L07633;NM_001281528;NM_001281529;NM_006263;NM_176783;U10360 AAA16521;AAA53230;AAF02217;AAH00352;AAH07503;AAV38144;ABM82764;ABM85950;BAA28836;BAG35144;CAD62621;CAG33061;CAG46459;EAW66105;EAW66106;NP_001268457;NP_001268458;NP_006254;NP_788955;Q06323 Hs.75348 1659237;1687942 RH75843;RH78603 IFI5111;IGUP I-5111;MGC8628;PA28A;PA28alpha 11S regulator complex alpha subunit;11S regulator complex subunit alpha;29-kD MCP activator subunit;OTTHUMP00000027975;OTTHUMP00000164702;REG-alpha;REGalpha;activator of multicatalytic protease subunit 1;interferon gamma up-regulated I-5111 protein;interferon-gamma IEF SSP 5111;interferon-gamma-inducible protein 5111;protease (prosome, macropain) 28 subunit, alpha;proteasome activator 28 subunit alpha;proteasome activator complex subunit 1;proteasome activator subunit-1 APPROVED protein-coding ENSG00000092010 HGNC:9568 02803 600654 REVIEWED 1345096 PSME4 proteasome (prosome, macropain) activator subunit 4 ENCODES a protein that exhibits lysine-acetylated histone binding (ortholog); peptidase activator activity (ortholog); INVOLVED IN cellular response to DNA damage stimulus (ortholog); DNA repair (ortholog); proteasomal ubiquitin-independent protein catabolic process (ortholog); PARTICIPATES IN ubiquitin/proteasome degradation pathway; FOUND IN nucleus; cytosol (ortholog); spermatoproteasome complex (ortholog); INTERACTS WITH (-)-demecolcine; 1-nitropyrene; 17beta-estradiol 2 2 2 p16.2 53932066 54038835 - 54091204 54197977 - 53864067 53970840 - 1302306;6480464;6907045 12093752 10893419;11285280;12167863;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;15489334;16344560;17314511;17323924;17523843;19013454;19193609;20379614;21139048;21145461;21697133;21890473;21906983;21963094;21987572;22863883;23000965;24811749;24816145;7584044;9079628;9811770;9846577 23198 F8WBH5;Q14997 AA884260;AB621805;ABBA01075243;ABBA01075244;ABBA01075245;ABBA01075246;AC008068;AK025517;AK026085;AK124923;AL045471;AL599601;AMYH02003838;AU117034;AY894754;AY894755;AY894756;BC017090;BC032418;BC043602;BC062760;BC071768;BC112169;BC113668;BC143737;BC143739;BQ898809;BU569553;CH471053;D38521;NM_014614;XM_006711969 AAH43602;AAH71768;AAI12170;AAI13669;AAX83869;AAX83870;AAX83871;BAA07526;BAK64141;EAX00161;NP_055429;Q14997;XP_006712032 Hs.413801 1687403;1714983;1750755;1849537;2118661;2137423;2139628;2143660;2155009;2169543;5037552 A008R18;BCD1993;D3S3883;D8S2279;RH120829;RH35907;RH68270;RH93416;SGC35022;SHGC-102115;WI-11560 FLJ21864;KIAA0077;MGC138374;MGC142228;PA200 OTTHUMP00000200663;proteasome activator 200 kDa;proteasome activator PA200;proteasome activator complex subunit 4 protein-coding ENSG00000068878 HGNC:20635 09652 607705 VALIDATED 1345633 PSMF1 proteasome (prosome, macropain) inhibitor subunit 1 (PI31) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p13 1190063 1244762 + 1093872 1149017 + 1113263 1168373 + 1580863;6480464;6907045 10363639;10764772;10893419;11285280;11780052;12167863;12374861;12419264;12477932;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;14527406;14528300;14528301;14550573;14557625;14564014;14614829;15029244;15139295;15183343;15489334;15638724;16000308;16035254;16046164;16146763;16189514;16344560;16713569;18029348;18495667;19060904;19193609;19447967;19946888;21139048;21145461;21890473;21906983;21963094;21988832;22118674;24770418;24811749;24816145;8619474;9079628;9110174;9811770;9846577 9491 F5H4Z3;H0Y555;Q5QPM7;Q5QPM9;Q92530 AA885338;ABBA01053766;AF055032;AK098612;AK294134;AK300667;AK302164;AL031665;AMYH02036562;AMYH02036563;BC029836;BC126127;BC126462;BI461198;BI830805;CH471133;D88378;DA949012;DB028624;KF510461;NM_006814;NM_178578;XM_005260873;XM_005260874;XM_006723664 AAI26463;ADR82919;BAA13603;BAG57462;BAG62352;BAG63531;EAX10649;EAX10650;EAX10651;NP_006805;NP_848693;Q92530;XP_005260930;XP_005260931;XP_006723727 Hs.471917 1334792;1672893;1683445;1759395;1766879;2136763;2168793;2168795;2173813;2179645;2217866 A002B36;D20S199;G19899;PSMF1_3511;RH66063;RH75207;RH78439;SHGC-151186;SHGC-152302;WI-12610;WI-14248 PI31;hPI31 OTTHUMP00000029952;OTTHUMP00000029955;proteasome inhibitor PI31 subunit;proteasome inhibitor hP131 subunit APPROVED protein-coding ENSG00000125818 HGNC:9571 17919 REVIEWED 733724 PSME2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the beta subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three beta and three alpha subunits combine to form a heterohexameric ring. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 4477042 4480323 - 24612574 24615855 - 24143365 24147316 - 69948;1580863;6480464;6907045 7789512 10199920;10799514;10893419;11285280;11745344;12167863;12200048;12419264;12477932;12519221;12719574;12750511;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;1429590;14527406;14528300;14528301;14550573;14557625;14564014;14614829;15029244;15489334;16189514;16226712;17110338;17323924;18187620;18685789;19017543;19056867;19193609;19403671;19946888;21139048;21832049;21890473;21906983;21987572;21988832;22173998;22863883;22939629;23000965;23503661;23624078;23824909;23898208;24811749;24816145;7989312;8125298;8663520;8811196;9079628;9325261;9344661;9346951;9620878;9811770;9840465;9846577 5721 H0YKU2;H0YLD2;H0YLG1;H0YM70;Q86SZ7;Q9UL46 ABBA01061333;AF079558;AK026580;AK225876;AK311569;AL136295;AMYH02028879;AY771595;BC004368;BC019885;BC072025;BX161498;CH471078;CR541657;CR541743;D45248;NM_002818;XM_006720212;XM_006720213 AAF02218;AAH04368;AAH19885;AAH72025;AAX11425;ABM84330;ABM87721;BAA08205;CAD61943;CAG46458;CAG46543;EAW66100;EAW66101;NP_002809;Q9UL46;XP_006720275;XP_006720276 Hs.434081;Hs.512410 1677382;1685443;1730335;2182099;2191677;5492135 D14S92E;MARC_4677-4678:996679594:1;Psme2;RH65053;RH71322;WI-18096 PA28B;PA28beta;REGbeta 11S regulator complex beta subunit;11S regulator complex subunit beta;MCP activator, 31-kD subunit;OTTHUMP00000027977;REG-beta;activator of multicatalytic protease subunit 2;cell migration-inducing protein 22;protease (prosome, macropain) 28 subunit, beta;proteasome activator 28 subunit beta;proteasome activator 28-beta;proteasome activator complex subunit 2;proteasome activator hPA28 subunit beta APPROVED protein-coding ENSG00000100911 HGNC:9569 03697 602161 REVIEWED 1601948 PSMG3 proteasome (prosome, macropain) assembly chaperone 3 INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; coumestrol 7 7 7 p22.3 1574122 1576822 - 1606968 1609668 - 1567332 1570493 - 6480464 12477932;12690205;12853948;15146197;15489334;16341674;17189198;17207965;19193609;19322201;21139048;21145461;21890473;21906983;21963094;21988832;22053931;22863883;23000965;24811749 84262 Q9BT73 ABBA01039346;AC093734;AMYH02015056;BC004308;BC027171;BM825255;BR000337;CH236953;CH471144;CN261807;NM_001134340;NM_032302;XM_006715792 AAH04308;AAH27171;AAP21867;ADQ32854;EAL23945;EAW87212;EAW87213;FAA00325;NP_001127812;NP_115678;Q9BT73;XP_006715855 Hs.446311 2119533 RH48827 C7orf48;MGC10911;PAC-3;PAC3;hPAC3 OTTHUMP00000147584;OTTHUMP00000200046;proteasome assembling chaperone 3;proteasome assembly chaperone 3 protein-coding ENSG00000157778 HGNC:22420 14404 VALIDATED 1312554 PSMG2 proteasome (prosome, macropain) assembly chaperone 2 INVOLVED IN proteasome assembly; FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; paracetamol; (S)-nicotine (ortholog) 18 18 18 p11.21 12585866 12608549 + 12658738 12725739 + 12658739 12725740 + 1580863;6480464 11854909;12147697;12477932;14702039;16169070;16251969;17189198;17207965;17554260;17554300;17948026;18174230;18978792;19193609;19738201;21139048;21890473;21906983;21963094;22053931;22939629;23000965;24811749;8125298 56984 K7ENR6;K7ER45;Q969U7;Q9P1R6;V9GZ55 ABBA01074026;ABBA01074027;ABBA01074028;AF068295;AF161378;AF168712;AF276707;AK025410;AK057005;AK225882;AMYH02034337;AP005482;BC013356;BF668035;BR000237;CH471113;CR457181;EF445040;NM_020232;NM_147163 AAF28938;AAF65184;AAF87314;AAH13356;AAK69439;ACA06090;ADQ31875;BAG51841;CAG33462;EAX01540;EAX01541;EAX01542;FAA00023;NP_064617;NP_671692;Q969U7 Hs.464652 2132797 A006T17 CLAST3;HCCA3;HDCMC29P;HSPC260;HsT1707;MDS003;MGC15092;PAC-2;PAC2;TNFSF5IP1 CD40 ligand-activated specific transcript 3;OTTHUMP00000162488;hepatocellular carcinoma susceptibility protein;hepatocellular carcinoma-susceptibility protein 3;likely ortholog of mouse CD40 ligand-activated specific transcript 3 (Clast3);proteasome assembling chaperone 2;proteasome assembly chaperone 2;tumor necrosis factor superfamily member 5-induced protein 1;tumor necrosis factor superfamily, member 5-induced protein 1;x 003 protein protein-coding ENSG00000128789 HGNC:24929 11638 609702 VALIDATED 1346105 PSORS1 psoriasis susceptibility 1 ASSOCIATED WITH HIV Infections (inferred); Psoriasis (inferred) 7240710 9158158 5674 HGNC:9573 177900;609423 1347146 PSMG4 proteasome (prosome, macropain) assembly chaperone 4 INTERACTS WITH (+)-catechin; all-trans-retinoic acid; ethyl methanesulfonate 6 6 6 p25.2 4488059 4497215 + 3259162 3268300 + 3258928 3268066 + 6480464 14702039;15146197;16341674;16344560;17707236;21139048;24816145 389362 D6R926;D6RB92;D6REN3;E2QRC7;F2Z3E0;H7C465;Q5JS54 AA948231;ABBA01048617;AK092793;AK095683;AK096543;AK125314;AK126623;AL389983;AMYH02012996;AMYH02012997;BM738331;BM846556;BX648600;CH471087;CN429483;DA093618;NM_001128591;NM_001128592;NM_001135750 EAW55130;EAW55131;NP_001122063;NP_001122064;NP_001129222;Q5JS54 Hs.207069;Hs.731726 1646563;1646565;1655747;1656088;1656090;1701530;1776322;1855386;2150870;2171761;5014051;5022200;5022651;5037552 A002C03;A005L18;D11S2921;D6S1193E;D8S2278;D8S2279;G19913;G20307;HSCZXB092;L18426;RH104398;RH45514;RH46781;WI-13800 C6orf86;PAC-4;PAC4;bA506K6.2;hPAC4 OTTHUMP00000015962;OTTHUMP00000015963;OTTHUMP00000221165;OTTHUMP00000221166;OTTHUMP00000221167;proteasome assembly chaperone 4 protein-coding ENSG00000180822 HGNC:21108 VALIDATED 1349813 PSORS1C2 psoriasis susceptibility 1 candidate 2 FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; lead diacetate (ortholog) 6 6 6 p21.3 32705537 32707353 - 31105311 31107127 - 31137534 31139350 - 6480464 10545595;12823445;12930300;15523160;19851445;21738480;21750679;22821332;23144326;23263863;23955597;8999895 170680 Q5SQ83;Q9UIG4 AB031480;AB088114;AB202103;ABBA01038068;AF484420;AL662844;AL662867;AL773544;AMYH02013443;BX927139;CH471081;CR753819;CR759815;NG_021348;NM_014069 AAI72314;AAO49377;BAA88131;BAC54949;BAE78627;EAX03359;NP_054788;Q9UIG4 Hs.146824 1786118;2117666;5492793 RH47968;SHGC-172541;UniSTS:482638 C6orf17;SPR1 OTTHUMP00000029097;psoriasis susceptibility 1 candidate gene 2 protein protein-coding ENSG00000204538 HGNC:17199 17921 613526 VALIDATED 1353176 PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 6 6 6 p21.33 32741751 32745916 - 31141512 31145676 - 31173735 31177899 - 6480464;8554872 15848982;16965413;21051598;21738480;21912425;23266558 100130889 ABBA01038070;AL662833;AL662844;AL773544;AMYH02013445;AY484516;BX088580;CR388229;CR759815;CR847794;HG499136;NR_026816 AAS49640 Hs.670091 AB023059.1;NCRNA00196 ncrna ENSG00000204528 HGNC:17203 PREDICTED 1315927 PSME3 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 17 17 17 q21 37641478 37651832 + 40985159 40995777 + 42833142 42843760 + 6480464;6907045 10893419;11285280;11859414;12167863;12419264;12477932;12719574;12750511;12784391;12791267;12808465;12808466;12809610;12830140;12840737;12859895;12914693;12920286;12970355;12970408;14527406;14528300;14528301;14550573;14557625;14564014;14614829;14702039;15029244;15161933;15489334;16051665;16169070;16189514;16196087;16303743;16439211;16713569;17043677;17088425;17108031;17202780;17323924;17327906;17353931;17499743;17588519;18235248;18309296;18321762;18343811;18685789;18781797;18985028;19091860;19349277;19460752;19556897;19596235;19615732;19656465;1968796;19738201;19946888;20467919;20494959;20580715;20683941;20719955;21084564;21139048;21216954;21282530;21320693;21445096;21890473;21906983;21963094;21987572;22042974;22053931;22134242;22190034;22190037;22505724;22623428;22797925;22863883;22938444;22939629;23000965;23104922;23402259;23443559;23503661;23602568;23612972;23824909;24113729;24157709;24583282;24722188;24778252;24811749;7545954;7675458;7951316;8811196;9079628;9218537;9325261;9344661;9403698;9590240;9811770;9840465;9846577 10197 B3KQ25;B7Z8D3;K7EJF8;K7EKR3;K7EMD0;K7ENH2;K7EPX6;K7ESG5;P61289;Q6MZZ1;V9HWJ8 ABBA01006405;ABBA01006406;AC016889;AI304773;AK057221;AK074999;AK292618;AK303211;AK307110;AK314347;AMYH02033441;BC001423;BC002684;BC008020;BG708969;BI464061;BQ005550;BT019386;BX640801;CH471152;CQ782983;CR541745;EU794653;FJ200488;JX156303;NM_001267045;NM_005789;NM_176863;NR_049772;U11292;U25756 AAA93227;AAB60335;AAH01423;AAH02684;AAH08020;AAV38193;ABM82856;ABM86043;ACJ13707;ACO54885;AFP49816;BAF85307;BAG51887;BAG52046;BAH13919;CAE45884;CAF86206;CAG46545;EAW60891;EAW60892;EAW60893;EAW60894;NP_001253974;NP_005780;NP_789839;P61289 Hs.152978 1648289;1657648;1769215;5015961;5022463;5037358;5037552;5109281 D15S1477;D17S897E;D1S1425;D3S1673;D8S2279;RH16239;RH47258;STS-U11292 HEL-S-283;Ki;PA28-gamma;PA28G;PA28gamma;REG-GAMMA 11S regulator complex gamma subunit;11S regulator complex subunit gamma;Ki antigen;Ki nuclear autoantigen;PA28 gamma variant 5;REG gamma-3;activator of multicatalytic protease subunit 3;epididymis secretory protein Li 283;proteasome activator 28 subunit gamma;proteasome activator 28-gamma;proteasome activator complex subunit 3 APPROVED protein-coding ENSG00000131467 HGNC:9570 05500 605129 REVIEWED 7155074 PSMG3-AS1 PSMG3 antisense RNA 1 (head to head) INTERACTS WITH quercetin 7 7 7 p22.3 1576863 1596141 + 1609709 1629262 + 1570073 1589626 + 6480464 11572484;12477932;14702039;16344560 114796 Q96PY0 AB067495;ABBA01039346;AC093734;AK054665;AK091044;AK092212;AMYH02015056;BC036405;BC047649;BQ447466;BX538028;CH236953;CH471144;DA046883;DA928000;DB075169;HG499957;HG499958;HG499959;HG499960;HG499961;HG499962;LK939032;NR_021487;NR_027328;NR_027329 BAB67801;EAW87215 Hs.436146 1722037;1767539 G59905;WIAF-2189 AC093734.11 ncrna ENSG00000230487 HGNC:22230 VALIDATED 1342831 PSORS2 psoriasis susceptibility 2 ASSOCIATED WITH Pityriasis Rubra Pilaris (inferred); Psoriasis (inferred) 7240710 8178173 5722 1299971;1334706;1335213;1341087;1341260;7183810;7186445;7186829;7187054 D17S784;D17S785;D17S795;D17S802;D17S921;D17S928 HGNC:9574 173200;602723 1343678 PSORS1C1 psoriasis susceptibility 1 candidate 1 This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011] 6 6 6 p21.3 32682826 32708095 + 31082608 31107869 + 31114831 31140092 + 6480464;8554872 10545595;12477932;12930300;15301859;15708881;16029332;18976687;19115949;19851445;20041166;20139978;21738480;21750679;21801394;21912425;22277675;22896740;23001997;23128233;23144326;23263863;23326239;23769905;23955597 170679 D2IYL0;Q2M3K9;Q9UIG5 AB031479;AB088114;AB202103;ABBA01038068;AF484418;AF484419;AI243345;AL662844;AL662867;AL773544;AMYH02013443;BA000025;BC104870;BI825917;BX927139;CH471081;CR753819;CR759805;CR759815;CR936880;CR938714;DB454051;NG_021348;NM_014068 AAI04871;AAO49375;AAO49376;BAA88130;BAB63314;BAC54950;BAE78626;EAX03357;NP_054787;Q9UIG5 Hs.310958 1786118;1790853;2106129;2117666;2120024;2169589;2189593 C1_3_2;D6S1727;D6S2689;D6S2902;RH17634;RH47968;SHGC-172541 C6orf16;MGC132530;SEEK1 OTTHUMP00000029096;hypothetical protein LOC170679;psoriasis susceptibility 1 candidate gene 1 protein APPROVED protein-coding ENSG00000204540 HGNC:17202 17920 613525 REVIEWED 1313491 PSMG1 proteasome (prosome, macropain) assembly chaperone 1 ENCODES a protein that exhibits proteasome binding (inferred); INVOLVED IN proteasome assembly; FOUND IN cytoplasm; endoplasmic reticulum; nucleus; INTERACTS WITH cobalt dichloride; copper(2+) sulfate; cyclosporin A 21 21 21 q22.3 25745057 25753109 - 40449076 40555440 - 39175446 39183514 - 1580863;6480464 10830953;10872820;12477932;14702039;15489334;15590417;15670775;16251969;16712791;17189198;18758464;18793612;19193609;19379481;19738201;20062062;21079743;21139048;21145461;21300955;21509594;21890473;21906983;21963094;22053931;22593026;22797925;22863883;22939629;22990118;23000965;23824909;23969696;24811749;24816145;25027693;9784380 8624 F8WBH7;H7C3B4;O95456 AA731200;AB451468;ABBA01009348;AF129408;AF417108;AJ006291;AK001455;AK308614;AK315406;AL163279;AMYH02037824;AW594615;AY463963;BC003619;BC010424;BC011755;BC012809;BE779375;BM013494;BM460414;BM462074;BM476420;BQ008489;BR000236;CB160221;CH471079;CR541821;CR541852;FN152980;KF457306;NM_001261824;NM_003720;NM_203433;NR_049728 AAH03619;AAH10424;AAH11755;AAH12809;AAR25628;ABM83237;ABM86437;BAG37798;BAG70282;CAA06957;CAB90451;CAG46620;CAG46650;EAX09664;EAX09665;EAX09666;FAA00022;NP_001248753;NP_003711;NP_982257;O95456 Hs.473838 1336571;1654750;1690185;1800944;1810062;1810802;1812894;1816244;1817690;1822828;1829394;1830148;1830718;1838492;1896566;1896568;1896570;1897398;1897400;1897402;1897404;1897406;1897408;1897410;1897412;1897414;1897416;1897418;1897420;1897422;1897424;1897426;1897428;1897430;1897432;1897434;1897436;1897438;1897440;1897442;1897444;1897446;1897448;1897450;1897452;1897454;1897456;1897458;1897460;1897462;1897464;1897466;1897468;1897470;1897472;1897474;1897476;1897478;1897480;1897482;1897484;1897486;1897488;2121047;2202870;2202872;2202874;2202876;2202878;2202880;2202882;2202884 D11S906;D12S2018;ECD01337;ECD06023;ECD06399;ECD07460;ECD09163;ECD09897;ECD12502;ECD15828;ECD16207;ECD16495;ECD20420;REN19069;REN19070;REN19071;REN19491;REN19492;REN19493;REN19494;REN19495;REN19496;REN19497;REN19498;REN19499;REN19500;REN19501;REN19502;REN19503;REN19504;REN19505;REN19506;REN19507;REN19508;REN19509;REN19510;REN19511;REN19512;REN19513;REN19514;REN19515;REN19516;REN19517;REN19518;REN19519;REN19520;REN19521;REN19522;REN19523;REN19524;REN19525;REN19526;REN19527;REN19528;REN19529;REN19530;REN19531;REN19532;REN19533;REN19534;REN19535;REN19536;RH91761;SHGC-51878;stSG622582;stSG622583;stSG622584;stSG622585;stSG622586;stSG622587;stSG622588;stSG622589 C21LRP;DSCR2;LRPC21;PAC-1;PAC1 Down syndrome critical region gene 2;Down syndrome critical region protein 2;OTTHUMP00000068798;OTTHUMP00000068799;chromosome 21 leucine-rich protein;leucine rich protein C21-LRP;proteasome assembling chaperone 1;proteasome assembly chaperone 1 protein-coding ENSG00000183527 HGNC:3043 05598 605296 VALIDATED 1352840 PSORS3 psoriasis susceptibility 3 ASSOCIATED WITH Psoriasis (inferred) 7240710 8841203 7889 1298122;1336854;1337133;1337196;1337288;1337812;1338978;1339333;1340836;1342233;7185729 D4S1535;D4S1540;D4S1554;D4S1652;D4S171;D4S2361;D4S2431;D4S2623;D4S2920;D4S2921;D4S408 HGNC:9575 601454 1349574 PSORS4 psoriasis susceptibility 4 ASSOCIATED WITH Psoriasis (inferred) 7240710 11348461;9886260 10547 1336357;1338828 D1S179;D1S305 HGNC:17275 603935 1344041 PSORS5 psoriasis susceptibility 5 ASSOCIATED WITH Psoriasis (inferred) 737840;7240710 11863360 10573011 63870 1298239;1339914;7183415 D3S1551;D3S1768;D3S2465 HGNC:17953 604316 1350897 PSORS7 psoriasis susceptibility 7 ASSOCIATED WITH Psoriasis (inferred) 7240710 94006 1336850;1341890;1342199;7184426;7184924;7187157 D1S197;D1S200;D1S207 HGNC:14207 605606 1354250 PSORS8 psoriasis susceptibility 8 ASSOCIATED WITH Psoriasis (inferred) 7240710 9259283 140454 HGNC:17322 610707 6481310 PSPC1-AS1 PSPC1 antisense RNA 1 100874105 AL354808 APPROVED miscrna HGNC:40915 5686928 PSPC1-OT1 PSPC1 overlapping transcript 1 (non-protein coding) q12.11 100861521 AI193523;AL354808 Hs.656058 miscrna HGNC:42702 5133165 PSPC1P1 paraspeckle component 1 pseudogene 1 13 13 13 q12.11 837698 863458 - 19775777 19801572 - 19201637 19227432 - 642395 ABBA01068551;ABBA01068552;AL139327;AMYH02027611;NG_011334 1677158;1737385;2176444 D13S967;RH99234;SHGC-58322 pseudo HGNC:42033 INFERRED 6481514 PSPC1P2 paraspeckle component 1 pseudogene 2 13 13 25140981 25144866 + 24566843 24570728 + 100873875 ABBA01007893;AL359538;AMYH02027708;NG_032524 pseudo HGNC:42643 INFERRED 1350761 PSTK phosphoseryl-tRNA kinase ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); tRNA binding (inferred); INVOLVED IN phosphorylation (inferred); selenocysteine incorporation (inferred); selenocysteinyl-tRNA(Sec) biosynthetic process (inferred); PARTICIPATES IN selenoamino acid metabolic pathway; FOUND IN mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; methyl methanesulfonate 10 10 10 q26.13 118446014 118456374 + 124739556 124749906 + 122980040 122990390 + 737633;6480464;6907045 12477932 14702039;15317934;15489334;20877624;21906983;24250222 118672 C9JJW0;H7BYY4;Q8IV42 ABBA01062838;AC073585;AK094271;AK127173;AMYH02023958;AMYH02023959;BC035344;CH471066;NM_153336;XM_005269496 AAH35344;ADZ16089;BAC86867;BAG52853;EAW49295;EAW49296;NP_699167;Q8IV42;XP_005269553 Hs.281004 1678643 RH94240 C10orf89;MGC35392 L-seryl-tRNA(Sec) kinase;O-phosphoseryl-tRNA(Sec) kinase;OTTHUMP00000020668;OTTHUMP00000020669 protein-coding ENSG00000179988 HGNC:28578 16586 611310 VALIDATED 1606488 PSRC1 proline/serine-rich coiled-coil 1 This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014] 1 1 1 p13.3 108091542 108095156 - 109822176 109825790 - 109279554 109283168 - 6480464;8554872 10618717;12082536;12427559;12477932;14702039;15489334;15498874;16710414;16964243;17207965;17310996;17634449;18179892;18193043;18193044;18262040;18291097;18411309;18649068;18793611;19060906;19060910;19060911;19065533;19198609;19299407;19336575;19487539;19531213;19656773;19660754;19738423;19913121;19936222;19955471;20031591;20061788;20117088;20167577;20237496;20339536;20370913;20442857;20549515;20570916;20628086;20679960;20686565;20694560;20738937;20971364;21087763;21378988;21378990;21426902;21473853;21832049;21900206;21909109;22467851;22939629;23652583;24262325 84722 A8K0M8;Q5T2Z0;Q5T2Z1;Q6PGN9;S4R3S8 ABBA01068377;AF223000;AF322891;AF447874;AK126567;AK289593;AL390252;AMYH02001708;BC056909;BE206101;BF984061;BI857497;BJ992594;BQ448200;BX649139;CH471122;KF459601;NM_001005290;NM_001032291;NM_032636;XM_005271282;XM_005271283;XM_006710982;XM_006710983;XM_006710984;XM_006710985 AAH56909;AAN73431;AAN73434;AAQ04649;ADQ32603;BAC86599;BAF82282;EAW56373;EAW56374;EAW56375;EAW56376;EAW56377;NP_001005290;NP_001027462;NP_116025;Q6PGN9;XP_005271339;XP_005271340;XP_006711045;XP_006711046;XP_006711047;XP_006711048 Hs.405925 1649752 SHGC-75276 DDA3;FP3214;MGC1780;RP11-297O4.2 OTTHUMP00000013785;OTTHUMP00000013786;OTTHUMP00000013789;OTTHUMP00000013790;OTTHUMP00000205834;OTTHUMP00000205835;OTTHUMP00000205836;differential display and activated by p53;p53-regulated DDA3;proline/serine-rich coiled-coil protein 1 APPROVED protein-coding ENSG00000134222 HGNC:24472 13127 613126 REVIEWED 1320843 PSPC1 paraspeckle component 1 This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein structures that include a non-coding RNA, NEAT1/Men epsilon/beta, and the Drosophila Behavior Human Splicing family of proteins, which include the product of this gene and the P54NRB/NONO and PSF/SFPQ proteins. Paraspeckles may function in the control of gene expression via an RNA nuclear retention mechanism. The protein encoded by this gene is found in paraspeckles in transcriptionally active cells, but it localizes to unique cap structures at the nucleolar periphery when RNA polymerase II transcription is inhibited, or during telophase. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene, which is also located on chromosome 13, has been identified. [provided by RefSeq, Aug 2011] 13 13 13 q12.11 1310734 1418914 - 20248892 20357159 - 19674752 19783019 - 1580863;6480464 11790298;11790299;12477932;12810069;14702039;15140795;15342556;15635413;16055720;16148043;16169070;16344560;18029348;18729074;19167051;19188602;19217333;19716791;19720872;20508642;20573717;20881053;20974138;21139048;21144806;21145461;21532345;21670149;21890473;22102035;22145905;22174317;22416126;22751105;22939629;24250222;24457600;24583282;24816145;8889548 55269 B4DWI8;Q8WXF1;X6RDA4 ABBA01068558;ABBA01068559;ABBA01068560;ABBA01068561;ABBA01068562;AF448795;AF449627;AK001817;AK090873;AK301554;AL354808;AL834505;AMYH02027617;AMYH02027618;AMYH02027619;BC014184;BM981042;BP225439;BQ685330;CA425205;CB214993;CH471075;CR457272;CX759783;DA644474;DC396174;KF455742;KF455747;KF455751;NG_029751;NM_001042414;NR_003272;NR_044998;XM_006719844;XM_006719845 AAH14184;AAL59601;AAL59602;ABM83605;ABM86848;BAA91924;BAG63050;CAD39162;CAG33553;EAX08232;EAX08233;EAX08234;NP_001035879;Q8WXF1;XP_006719907;XP_006719908 Hs.213198 1651597;1652539;1677158;1682161;1688412;1697748;1737391;1737397;1748429;1749191;2176444 D13S183E;D13S972;D13S977;D20S530E;G64217;RH102397;RH94086;RH99234;SHGC-110875;SHGC-58322;STS-M78307 DKFZp566B1447;FLJ10955;FLJ33554;PSP1 OTTHUMP00000018077;paraspeckle protein 1 APPROVED protein-coding ENSG00000121390 HGNC:20320 10172 612408 REVIEWED 1345700 PSPHP1 phosphoserine phosphatase pseudogene 1 This gene is significantly upregulated in Fanconi's anemia fibroblasts but downregulated or absent in fibroblasts from normal donors. It is also highly expressed in FA B-cells of complementation group A. [provided by RefSeq, Jul 2008] 7 7 7 q11.2 66885522 66894420 + 55832490 55841389 + 55764797 55773696 + 1580863;6480464 12477932;24650299;9573387 8781 O15172 ABBA01061823;ABBA01061824;AC091812;AJ001612;AMYH02015738;AMYH02015739;BC065228;NG_009001 CAA04865;O15172 1643678 D7S2915 CO9;PSPHL APPROVED pseudo HGNC:9578 604239 INFERRED 1352589 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 FOUND IN cytoskeleton (inferred); cytosol (inferred); membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cyclosporin A 18 18 18 q12 40371650 40460439 - 43563502 43652250 - 45983536 46072284 - 6480464 12477932;14702039;15342556;15489334;15862967;16344560;19380743;20032092;21706016;21906983;24250222;24407241;8889549;9804817;9804836 9050 Q9H939 ABBA01022325;ABBA01022326;ABBA01022327;ABBA01022328;ABBA01022329;AC012569;AC090355;AK023100;AMYH02034651;AMYH02034652;AMYH02034653;BC026223;BC035395;BP352927;CH471088;DA943980;KF456397;NM_024430 AAH35395;ABM84125;ABM84126;ABM84127;ABM84621;ABM87526;ABM87527;ABM87528;BAB14404;EAX01466;EAX01467;NP_077748;Q9H939 Hs.567384 1777463;1778131;2126217;2141559;2169481;2175001;5015861;5037552;7185938 A002Q33;AFMB022XC9;D10S16;D8S2279;RH48786;RH66348;STS-D29160;WI-3599 MAYP;MGC34175 OTTHUMP00000202182;OTTHUMP00000202254;PEST phosphatase-interacting protein 2;proline-serine-threonine phosphatase-interacting protein 2 protein-coding ENSG00000152229 HGNC:9581 06687 616046 VALIDATED 1313649 PTAR1 protein prenyltransferase alpha subunit repeat containing 1 ENCODES a protein that exhibits protein prenyltransferase activity (inferred); INVOLVED IN protein prenylation (inferred); INTERACTS WITH all-trans-retinoic acid; methyl methanesulfonate; torcetrapib 9 9 9 q21.12 42914816 42965239 - 72324438 72374916 - 69709522 69760038 - 737633;6480464 12477932 16341674;21906983 375743 F5GXY1;J3KQP8;Q7Z6K3;X6R9N0 ABBA01033812;ABBA01033813;ABBA01033814;AI937926;AK127511;AL162412;AL832683;AMYH02020943;BC053622;BM785278;CH471089;KF458921;NM_001099666;XM_005251976;XM_005251977;XM_005251979;XM_005251980;XM_005251981 AAH53622;EAW62489;NP_001093136;Q7Z6K3;XP_005252033;XP_005252034;XP_005252036;XP_005252037;XP_005252038 Hs.744192 1334729;1669516;1778891;2107533;2132670;2154693;7187777 A004M30;ATC-P10587;D9S15;PTAR1__6945;RH36245;WI-18349 FLJ45604 4930428J16Rik;OTTHUMP00000021437;protein prenyltransferase alpha subunit repeat-containing protein 1 protein-coding ENSG00000188647 HGNC:30449 VALIDATED 1348128 PTBP1P polypyrimidine tract binding protein 1 pseudogene 14 14 14 q23.3 45800913 45801564 + 65745938 65748375 + 65279220 65281657 + 11024286;20585324 122888 AB072380;ABBA01018384;AL355076;AMYH02029372;NG_002328 HNRNPIP pseudo HGNC:20030 INFERRED 733075 PTAFR platelet-activating factor receptor This gene encodes a seven-transmembrane G-protein-coupled receptor for platelet-activating factor (PAF) that localizes to lipid rafts and/or caveolae in the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) is a phospholipid that plays a significant role in oncogenic transformation, tumor growth, angiogenesis, metastasis, and pro-inflammatory processes. Binding of PAF to the PAF-receptor (PAFR) stimulates numerous signal transduction pathways including phospholipase C, D, A2, mitogen-activated protein kinases (MAPKs), and the phosphatidylinositol-calcium second messenger system. Following PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR phosphorylation, internalization, and down-regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 1 1 1 p35-p34.3 26869321 26916090 - 28473677 28520447 - 28147166 28193936 - 1581279;1580863;6480464;6907045 12812996 10391209;10395919;10601267;11297424;11729201;11861812;11928813;12467527;12477932;12601006;12713583;12756251;1281995;1312046;1322356;1374385;14500680;14500726;14617636;15028279;15115767;15149885;15160913;15489334;15748960;16115894;16306050;16344560;1656963;1657923;16709866;16754659;16793019;16837045;16984258;17192395;17301560;17928889;18029348;18187960;18577758;18632638;19474802;19620302;19703903;19913121;20007715;20032301;20237496;20392487;20576130;20628086;20637897;21063106;21247619;21615674;21658861;21988832;22570511;22577252;22595142;22707565;23070058;23911710;24062612;24130805;24289152;24824933;24886678;24921917;3010668;6325330;7566121;7848283;8168510;8383507;8387031;8395240;8892648;8978777;9037196;9657523 5724 A8K7N8;P25105 ABBA01035013;ABBA01035014;ABBA01035015;AK290240;AK292053;AK313174;AL137792;AL353354;AMYH02000619;AMYH02000620;AMYH02000621;AY275466;BC013816;BC063000;BT009801;CD013879;CH471059;D10202;D31736;DA705644;DA923972;L07334;M76674;M80436;M88177;NG_029815;NM_000952;NM_001164721;NM_001164722;NM_001164723;S52624;S56396 AAA60001;AAA60002;AAA60108;AAA60214;AAB24695;AAB25755;AAH13816;AAH63000;AAP32298;AAP88803;ABM82642;ABM85819;ACE87813;ACT64516;BAA01050;BAA06537;BAF82929;BAF84742;BAG35991;EAX07711;NP_000943;NP_001158193;NP_001158194;NP_001158195;P25105 Hs.77542 1684465;1701680;1744471;1852625;2113694;2154881;2164239;2184872;5015619;5016478;5020881;5022200;5022578 A006N37;D11S3114;D1S1423;GDB:434012;GDB:455460;L17709;L18426;PTAFR;RH104513;RH68225;RH93431;SHGC-74513;WI-7771 PAF-R;PAFR OTTHUMP00000004040;OTTHUMP00000004041 APPROVED protein-coding ENSG00000169403 HGNC:9582 01422 173393 REVIEWED 736997 PSPN persephin The protein encoded by this gene is a neurotrophic factor, belonging to the GDNF family. Neurotrophic factors are important for the proper development and maintenance of the nervous system. These factors promote neuronal survival and can prevent the neuronal degeneration associated with injury, toxin exposure, or neurodegenerative disease. The encoded protein has amino acid similarity to its other family members, glial cell line-derived neurotrophic factor and neurturin. This gene product promotes the survival of ventral midbrain dopaminergic neurons in culture and prevents their degeneration after 6-hydroxydopamine treatment in vivo. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 6314092 6314647 - 6375305 6375860 - 6375294 6375849 - 1580863;6480464;8554872 10072588;10380959;11116144;14702039;15225646;15829225;18970938;20350599;9491986;9740802 5623 M0QYK2;O60542 ABBA01055961;AC011491;AF040962;AK055490;AMYH02035351;CH471139;NM_004158 AAC39640;AAI52718;AAI56564;EAW69100;EAW69101;NP_004149;O60542 Hs.248159 2159914;5492945;5494027 RH65607;UniSTS:480761;UniSTS:483330 PSP OTTHUMP00000237858 APPROVED protein-coding ENSG00000125650 HGNC:9579 04230 602921 REVIEWED 1343835 PTBP2 polypyrimidine tract binding protein 2 The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 p21.3 95441461 95534886 + 97187161 97280605 + 96721605 96815049 + 6480464 11003644;11694331;11790298;12213192;12477932;12581738;12667457;14667811;14702039;15489334;16002244;16189514;16710414;16713569;17548433;18335065;19322201;19471022;19571811;20160105;20379614;20935630;21139048;21282112;21906983;21987572;21988832;22365833;22505724;22655688;22688191;22939629;23000965;23174904;24264039;24448406;24688880;25025966;8626763 58155 B4DI28;B4DSS8;Q9UKA9 AB051232;AB051233;AB209266;ABBA01045481;ABBA01045482;AF176085;AF530580;AF530581;AF530582;AF530583;AF530584;AF530585;AI052528;AI968454;AK022716;AK025333;AK092216;AK295384;AK299755;AK299897;AK299922;AL357150;AMYH02001528;AMYH02001529;AMYH02001530;AMYH02001531;BC016582;BK000526;BP250235;CH471097;DB473562;NM_001300985;NM_001300986;NM_001300987;NM_001300988;NM_001300989;NM_001300990;NM_021190;NR_125356;NR_125357;U89241;XM_005271084;XM_005271085;XM_005271086;XR_246284;XR_246285;XR_246286;XR_246287 AAD09652;AAF14284;AAH16582;AAM94624;AAM94625;AAM94626;AAM94627;AAM94628;AAM94629;ABM81953;ABW03352;BAB71742;BAB71743;BAD92503;BAG58340;BAG61644;BAG61740;BAG61757;DAA00060;EAW73005;EAW73006;EAW73007;EAW73008;EAW73009;EAW73010;NP_001287914;NP_001287915;NP_001287916;NP_001287917;NP_001287918;NP_001287919;NP_067013;Q9UKA9;XP_005271141;XP_005271142;XP_005271143 Hs.596061;Hs.743449 1674228;1713177;2118828;5015404;5020946;5022200;5109281 AL009743;D1S1425;L17705;L17971;L18426;RH120375;RH66475 FLJ34897;PTB;PTBLP;brPTB;nPTB;nPTB5;nPTB6;nPTB7;nPTB8 OTTHUMP00000012410;OTTHUMP00000012411;OTTHUMP00000012412;OTTHUMP00000012413;PTB-like protein;neural polypyrimidine tract binding protein;neural polypyrimidine tract-binding protein;neurally-enriched homolog of PTB;polypyrimidine tract-binding protein 2;splicing regulator APPROVED protein-coding ENSG00000117569 HGNC:17662 12233 608449 REVIEWED 1318726 PSPH phosphoserine phosphatase The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008] 7 7 7 p11.2 67132178 67172669 - 56078056 56119297 - 56010363 56051604 - 1580863;2308873;6480464;6907045;8699517;7240710;8554872 7201630 10567362;11752790;12213811;12477932;12777757;14673469;14702039;15291819;15489334;17207965;17353931;1964582;1965857;21139048;21726982;21906983;23275563;2851960;6249179;6297854;6297855;8125298;9188776;9222972;9603909 5723 C9JBI3;C9JEJ7;F8WD74;P78330 ABBA01061844;ABBA01061845;ABBA01061846;ABBA01061847;ABBA01061848;ABBA01061849;AC092579;AK054677;AK126156;AK223508;AK315235;AMYH02015749;AW574794;BC052958;BC063614;BX537439;CH471140;NG_011473;NM_004577;XM_005271773;XM_005271774;XM_005271775;XM_005271776;XM_005271777;XM_006715760;XM_006715761 AAH63614;ADQ32586;BAD97228;BAG37662;CAD97681;EAX07968;EAX07969;EAX07970;EAX07971;NP_004568;P78330;XP_005271830;XP_005271831;XP_005271832;XP_005271833;XP_005271834;XP_006715823;XP_006715824 Hs.512656 1662402;2147302;5014019;5014051;5015619;5015961;5016478;5016700;5016781;5017227;5020635;5020946;5022578;5022651;5024039;5037552 A002S16;D11S2921;D11S3114;D15S1477;D16S325;D1S1423;D5S2354;D7S3207;D8S2278;D8S2279;G38154;GDB:434012;L17971;RH68196;RH79802;SHGC-67307 PSP;PSPHD L-3-phosphoserine phosphatase;O-phosphoserine phosphohydrolase;OTTHUMP00000159738;OTTHUMP00000209319;OTTHUMP00000209324;OTTHUMP00000209327;PSPase APPROVED protein-coding ENSG00000146733 HGNC:9577 01406 172480;614023 REVIEWED 732344 PTBP3 polypyrimidine tract binding protein 3 The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 9 q32 85479714 85594900 - 114979995 115095944 - 112217715 112378847 - 704461;6480464;8554872 10207106 12477932;14702039;15146197;15489334;18335065;19322201;19441079;19471022;20379614;20467438;21139048;21832049;21890473;21906983;21963094;21987572;22505724;22575643;22939629;23000965;23022380;23024754;24457600;24816145 9991 B1ALY4;O95758;X6R242 AB023967;ABBA01042708;ABBA01042709;ABBA01042710;AK001685;AK302558;AL158824;AL162732;AL359073;AL710523;AMYH02021484;AMYH02021485;BC039896;BC044585;BC045825;BI463123;BQ006891;BX097575;BX422279;CH471105;CN371677;CR749471;NM_001163788;NM_001163790;NM_001244896;NM_001244897;NM_001244898;NM_005156;XM_005252324;XM_006717343;XM_006717344;XM_006717345;XM_006717346 AAH39896;AAH44585;BAA75466;BAG50959;BAG63824;CAH18301;EAW59099;EAW59100;EAW59101;EAW59102;NP_001157260;NP_001157262;NP_001231825;NP_001231826;NP_001231827;NP_005147;O95758;XP_005252381;XP_006717406;XP_006717407;XP_006717408;XP_006717409 Hs.269988 1697556;1700022;2171922;2172059 A008B29;RH102286;RH103623;WI-18346 DKFZp781I1117;ROD1 OTTHUMP00000021931;OTTHUMP00000021932;OTTHUMP00000021933;ROD1 regulator of differentiation 1;fission yeast differentiation regulator;polypyrimidine tract-binding protein 3;regulator of differentiation 1 APPROVED protein-coding ENSG00000119314 HGNC:10253 09603 607527 REVIEWED 7241714 PTCD2P2 pentatricopeptide repeat domain 2 pseudogene 2 10 10 10 q23.31 84382977 84384132 + 90636144 90637299 + 88876387 88877542 + 100132487 ABBA01021953;AL157394;AMYH02023506;NG_022186 pseudo HGNC:45168 INFERRED 1322951 PTCD1 pentatricopeptide repeat domain 1 ENCODES a protein that exhibits poly(A) RNA binding; tRNA binding; INVOLVED IN tRNA 3'-end processing; FOUND IN mitochondrion; mitochondrial matrix (ortholog); INTERACTS WITH copper(2+) sulfate; pirinixic acid; 2,4-dinitrotoluene (ortholog) 7 7 7 q22.1 93750946 93770620 - 99014362 99045811 - 99416739 99438839 - 6480464 12477932;12690205;12853948;14702039;15489334;16344560;19651879;20186120;21857155;21890473;22446626;22939629;24778252;9734811;9847074 26024 A4D273;C9JGL8;C9JQN9;C9JWL7;O75127 AB014532;AB073644;ABBA01013262;ABBA01013263;AC004922;AC073063;AC090113;AK001615;AK291004;AK307981;AMYH02016360;BC003688;BC024042;BC080580;BC103495;BC103502;BC103661;BG717613;CH236956;CH471091;DA770648;NM_015545 AAH03688;AAH80580;AAI03496;AAI03503;AAI03662;BAA31607;BAF83693;BAG50949;EAL23880;EAW76669;NP_056360;O75127 Hs.632313;Hs.729925 1693582;5015619;5015961;5022588;5022651;5037552 D11S2921;D11S3114;D15S1477;D5S1597E;D8S2279;SHGC-58489 KIAA0632 OTTHUMP00000206312;OTTHUMP00000218971;pentatricopeptide repeat-containing protein 1;pentatricopeptide repeat-containing protein 1, mitochondrial protein-coding ENSG00000106246 HGNC:22198 11463 614774 VALIDATED 1321137 PTCD2 pentatricopeptide repeat domain 2 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of mRNA processing (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion; INTERACTS WITH 1-nitropyrene; copper(2+) sulfate; methyl methanesulfonate 5 5 5 q13.2 67511586 67550568 + 71616200 71656544 + 72320367 72361243 + 737633;6480464;8554872 12477932 14702039;16344560;18729827;20877624;21890473 79810 B3KPU6;B7Z8R2;D6RGK0;D6RIZ0;D6RJH8;E5RHU2;Q8WV60 ABBA01061904;ABBA01061905;AC026406;AI798903;AK022660;AK056761;AK298750;AK303639;AK303776;AMYH02011553;BC018720;CH471084;CR457290;DA082506;DC393817;NM_001284403;NM_001284404;NM_001284405;NM_024754;XM_005248601;XM_005248603;XR_241790 AAH18720;BAB14162;BAG51808;BAH12866;BAH14003;BAH14048;CAG33571;EAW95704;EAW95705;EAW95706;NP_001271332;NP_001271333;NP_001271334;NP_079030;Q8WV60;XP_005248658;XP_005248660 Hs.126906 1697382 RH102189 FLJ12598 OTTHUMP00000126945;OTTHUMP00000190857;OTTHUMP00000223573;pentatricopeptide repeat-containing protein 2;pentatricopeptide repeat-containing protein 2, mitochondrial protein-coding ENSG00000049883 HGNC:25734 15193 615484 VALIDATED 732339 PTBP1 polypyrimidine tract binding protein 1 This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3882 18816 - 797392 812327 + 797392 812327 + 1580863;6480464;8554872 10653975;10772858;10856256;11003644;11024286;11060040;11602719;11724819;11739782;11781313;11788707;12004072;12033793;12213192;12226669;12388589;12449425;12477932;12509450;12517964;12527772;12581738;12667457;12851456;1286667;14769134;15009664;15039777;15057824;15169918;15341728;15489334;15576338;15635413;15669107;15767428;15975576;16009940;16051233;16055720;16159877;16169070;16179478;16189514;16196087;16260624;16282332;16314454;16362043;16373488;16376875;1641332;16449650;16713569;16765895;16885029;17497933;17507659;17549794;17592047;17620599;17936301;18193060;18216120;18335065;18457437;18499661;18714005;18781797;18850631;1906035;1906036;19144709;19226116;19450550;19471022;19590510;19596686;19738201;19889140;19946888;20020773;20064465;20071487;20080103;20190818;20467438;21054383;21081666;21139048;21145461;21242519;21252943;21319273;21362553;21411518;21518792;21549307;21693764;21832049;21890473;21906983;21963094;21976412;21980057;21987572;22079093;22125086;22178446;22268729;22365833;22427970;22446626;22505724;22623428;22705452;22751105;22863883;22939629;22944692;23000965;23022380;23077502;23151878;23208419;23313552;23438482;23602568;24141718;24250222;24332808;24418535;24457600;24583282;24639526;24816145;7558043;8449401;8626763;8883365;9166399;9512476;9563502 5725 A6NLN1;K7EK45;K7EKJ7;K7EKX4;K7ELW5;K7ES59;P26599 AB208910;ABBA01002595;ABBA01002596;AC006273;AMYH02035123;BC002397;BC004383;BC013694;BC023219;BQ068293;BT006819;CH471242;NM_002819;NM_031990;NM_031991;X60648;X62006;X65371;X65372;X66975;XM_005259597;XM_005259598;XR_244034;XR_244035 AAC99798;AAH02397;AAH04383;AAH13694;AAP35465;BAD92147;CAA43056;CAA43973;CAA46443;CAA46444;CAA47386;EAW61152;EAW61153;EAW61154;EAW61155;EAW61156;EAW61157;EAW61158;NP_002810;NP_114367;NP_114368;P26599;XP_005259654;XP_005259655 Hs.172550 HNRNP-I;HNRNPI;HNRPI;MGC10830;MGC8461;PTB;PTB-1;PTB-T;PTB2;PTB3;PTB4;pPTB 57 kDa RNA-binding protein PPTB-1;RNA-binding protein;heterogeneous nuclear ribonucleoprotein I;heterogeneous nuclear ribonucleoprotein polypeptide I;hnRNP I;polypyrimidine tract binding protein;polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I);polypyrimidine tract-binding protein 1 APPROVED protein-coding ENSG00000011304 HGNC:9583 02823 600693 REVIEWED 1344871 PTCD2P1 pentatricopeptide repeat domain 2 pseudogene 1 14 14 14 q11.2 853323 854449 - 20992448 20993574 - 20524289 20525415 - 100131302;414887 ABBA01061232;AL163195;AMYH02028825;NG_022837 pseudo HGNC:31718 INFERRED 1605991 PTCD3 pentatricopeptide repeat domain 3 ENCODES a protein that exhibits poly(A) RNA binding; ribosomal small subunit binding; rRNA binding; INVOLVED IN mitochondrial translation; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion; INTERACTS WITH benzo[a]pyrene diol epoxide I; bisphenol A; copper(2+) sulfate 2 2 2 p11.2 86161451 86197422 + 86333305 86369280 + 86106182 86142157 + 6480464;8554872 12477932;16169070;16189514;16341674;16344560;16522924;16712791;17353931;19019082;19427859;19913121;20186120;20360068;20628086;20877624;21130132;21139048;21145461;21182203;21890473;22446626;22586326;22904065;22939629;23125841;23443559;23473034;24244333;24250222;24457600;24816145;25027693;8889548;8889549 55037 B4DF73;B8ZZQ4;F8WBP9;F8WE76;Q96EY7 ABBA01075772;AC009309;AK000765;AK293962;AK315676;AL832520;AMYH02004191;AW004698;AY277598;BC001758;BC011832;BE670168;BI825315;BM682009;BM729078;BM792175;BM930217;BQ071234;BQ574414;BQ883563;BU631567;CA776493;CB163660;CH471053;DA479719;N71834;NM_017952 AAH01758;AAH11832;AAQ18037;BAA91370;BAG38041;BAG57334;CAH56345;EAW99464;EAW99465;EAW99466;NP_060422;Q96EY7 Hs.323489;Hs.623885 1337154;1772046;1772048;1783964;1848173;2128900;2133011;2138488;2156154;2156156;2159409;5020274;7187269 A001W01;D6S1615;G19971;L18441;RH12062;RH36411;RH45713;RH48137;SHGC-132727;SHGC-31152;SHGC-37694;WI-15372 DKFZp666K071;FLJ20758;MRP-S39;TRG-15 28S ribosomal protein S39, mitochondrial;OTTHUMP00000203254;pentatricopeptide repeat domain-containing protein 3, mitochondrial;pentatricopeptide repeat-containing protein 3, mitochondrial;transformation-related gene 15 protein APPROVED protein-coding ENSG00000132300 HGNC:24717 08631 614918 VALIDATED 1352131 PTCHD1 patched domain containing 1 This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011] X X X p22.11 27474669 27536553 + 23352985 23414918 + 23334868 23396801 + 1580863;6480464;8554872 12477932;14702039;20301615;20531469;20844286;21091464;22610502;24722188 139411 H7C2M0;Q96NR3;X5DNX9 ABBA01072166;ABBA01072167;ABBA01072168;ABBA01072169;ABBA01072170;ABBA01072171;ABBA01072172;ABBA01072173;ABBA01072174;ABBA01072175;ABBA01072176;AC073910;AK054858;AK298796;AMYH02039025;AMYH02039026;BC062344;BC121061;BX107899;CH471074;DC351268;DC365753;KJ534921;KJ535084;KJ535090;NG_021300;NM_173495 AAH62344;AAI21062;AHW56561;AHW56723;AHW56729;BAB70816;BAG60932;EAW98994;NP_775766;Q96NR3 Hs.319503 1342077;1668907;2161120 DXS8104;RH46883;RH48273 FLJ30296;MGC149798 OTTHUMP00000023055;patched domain-containing protein 1 APPROVED protein-coding HGNC:26392 06548 300828 VALIDATED 1603018 PTCHD2 patched domain containing 2 ENCODES a protein that exhibits hedgehog receptor activity (inferred); INVOLVED IN cholesterol homeostasis (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (ortholog); nuclear membrane (ortholog); INTERACTS WITH cytarabine; choline (ortholog); folic acid (ortholog) 1 1 1 p36.22 10651871 10709957 + 11539295 11597640 + 11479238 11537583 + 6480464;8554872 10718198;11181995;15645143;15738394;16169070;16258256;19179482;21697133;8889548 57540 Q9P2K9;Q9UJD7 AB037758;AB593117;ABBA01003050;ABBA01003051;AL031735;AL117235;AL117236;AL590989;AMYH02000294;AMYH02000295;BU733859;CH471130;NM_020780 AAI72581;BAA92575;BAJ84057;CAB55302;CAB55303;EAW71687;NP_065831;Q9P2K9 Hs.202355 1659130 SHGC-74217 DISP3;KIAA1337 OTTHUMP00000002067;dispatched 3;patched domain-containing protein 2;protein dispatched homolog 3 protein-coding ENSG00000204624 HGNC:29251 611251 VALIDATED 1603484 PTCHD3 patched domain containing 3 ENCODES a protein that exhibits hedgehog receptor activity (inferred); INVOLVED IN signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); sperm midpiece (inferred); INTERACTS WITH valproic acid (ortholog) 10 10 10 p12.1 27450702 27466988 - 27687117 27703297 - 27398188 27414368 - 6480464;8554872 12477932;17904097;21439084;22581228 374308 Q3KNS1 ABBA01034391;AK126025;AL355493;AMYH02022514;BC107139;CH471072;DB509520;JF332167;NM_001034842;XM_005252449;XM_005276863 AAI07140;AEA72435;BAC86399;EAW86056;NP_001030014;Q3KNS1;XP_005252506;XP_005276920 Hs.631832 FLJ44037;MGC129888;PTR OTTHUMP00000216300;patched domain-containing protein 3;patched-related protein protein-coding ENSG00000182077 HGNC:24776 611791 VALIDATED 7204963 PTCHD3P2 patched domain containing 3 pseudogene 2 2 2 170623693 170625259 - 169767183 169768749 - 23251661 100533664 ABBA01014896;AC009967;AMYH02005193;NG_028775 pseudo HGNC:44946 INFERRED 7205322 PTCHD3P1 patched domain containing 3 pseudogene 1 10 10 10 p11.23 29464157 29476951 + 29698501 29711299 + 29409572 29422370 + 12477932;14702039 387647 ABBA01034365;AL158167;AMYH02022545;AMYH02022546;NG_034006 1683527;1689043;1697438;1773900;1847344;1855212;2144027;2162090 A008M13;D10S2195;RH102220;RH68411;RH68469;RH93948;RH98351;SGC38028 RP11-534G20.3 pseudo ENSG00000224597 HGNC:44945 INFERRED 7204964 PTCHD3P3 patched domain containing 3 pseudogene 3 6 6 109609774 109611973 - 109288571 109290770 - 100533665 ABBA01026128;ABBA01026129;AL359711;AMYH02014279;NG_028811 pseudo HGNC:44947 INFERRED 1604843 PTCH2 patched 2 This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009] 1 1 1 p34.1 43568356 43591362 - 45285516 45309226 - 44819844 44842944 - 5510013;5510026;6480464;6484113;6907045;7240710;8554872 20635334;20716670 10029063;11001584;12477932;12975309;14613484;16710414;17620599;18285427;19208383;19221557;19237606;20301330;20634891;23479190;9811851;9931336 8643 H0Y7J2;Q9Y6C5 AA781365;ABBA01050906;ABBA01050907;AF087651;AF091501;AF119569;AI798853;AK307168;AL136380;AL592166;AMYH02000919;AY358555;AY359016;AY438664;BC143712;BX089003;CH471059;NG_013369;NM_001166292;NM_003738 AAC79847;AAD17260;AAD25953;AAI52912;AAQ88919;AAQ89375;AAR05447;EAX07017;NP_001159764;NP_003729;Q9Y6C5 Hs.591497 PTC2 OTTHUMP00000010158;patched homolog 2 APPROVED protein-coding ENSG00000117425 HGNC:9586 04722 109400;155255;603673;605462 REVIEWED 1342695 PTCRA pre T-cell antigen receptor alpha The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] 6 6 6 p21.3 44435989 44445838 + 42883545 42893583 + 42915989 42925838 + 6480464;6484113;6907045;8554872 11891328;11927911;12477932;14500629;17823309;18818748;19019335;19527514;1979339;19966856;22795130;8618853;8760805;9842925 171558 Q6ISU1;Q6ZNR1 ABBA01050706;ABBA01050707;AF084941;AF101436;AF165312;AK130819;AK310559;AK312223;AL035587;AMYH02013635;AW014894;BC069336;BC100771;BC100772;BC100773;BC100774;BC153829;CH471081;NG_029636;NM_001243168;NM_001243169;NM_001243170;NM_138296;U36759;U38996 AAB06194;AAB18373;AAC83346;AAF21890;AAF89556;AAH69336;AAI00772;AAI00773;AAI00774;AAI00775;AAI53830;BAC85438;BAG35156;EAX04107;EAX04108;EAX04109;EAX04110;NP_001230097;NP_001230098;NP_001230099;NP_612153;Q6ISU1 Hs.169002 1848153;2109703 PTCRA__5607;RH46834 PT-ALPHA;PTA OTTHUMP00000016409;pT-alpha-TCR;pre-T cell receptor alpha chain;pre-T-cell receptor alpha chain APPROVED protein-coding ENSG00000171611 HGNC:21290 08435 606817 REVIEWED 1606357 PTCHD4 patched domain containing 4 ENCODES a protein that exhibits hedgehog receptor activity (inferred); INVOLVED IN signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; disodium selenite 6 6 6 p12.3 49402015 49592692 - 47845157 48036425 - 47878028 48069140 - 6480464;8554872 11181995;12477932;19913121;20379614;20628086 442213 B2RPC0;H0Y3Q6;Q6ZW05 ABBA01050605;AK123835;AK299301;AK300335;AL121973;AL139336;AL161622;AL353138;AMYH02013697;AMYH02013698;BC136779;BC137359;BC137364;CH471081;DC372324;DR761295;KF458157;KF458164;NM_001013732;NM_207499;XM_006715099 AAI36780;AAI37360;AAI37365;BAC85703;BAG61315;BAG62081;EAX04325;NP_001013754;NP_997382;Q6ZW05;XP_006715162 Hs.659409 1340102;1668672;1690650;1695902;1703540;1703836;1704426;1705408;1708386;1710488;1715743;1726607;1752175;1786020;1786156;2121916;2128127;2136237;2141916;2175743;2180754;2186878;5014051;5015619;5037552 1466;A004S46;AFMa191yf1;D11S3114;D2S263;D6S1471;D6S1669;D8S2278;D8S2279;G17054;G17065;G62537;RH119318;RH68022;RH93407;SHGC-106066;SHGC-155181;SHGC-78857;SHGC-79075;SHGC-79580;SHGC-82731;SHGC-82875;SHGC-82914;SHGC-83567;SHGC-86261 C6orf138;FLJ41841;dJ402H5.2 OTTHUMP00000197297;OTTHUMP00000197298;patched domain-containing protein 4;patched domain-containing protein C6orf138 APPROVED protein-coding ENSG00000244694 HGNC:21345 18470 VALIDATED 2311612 PTCSC1 papillary thyroid carcinoma susceptibility candidate 1 (non-protein coding) q24 14702039;19147577 100302522 AK023948 Hs.658759 NCRNA00197;PTCSC APPROVED ncrna HGNC:37127 6483485 PTCSC3 papillary thyroid carcinoma susceptibility candidate 3 (non-protein coding) ASSOCIATED WITH Chorea (inferred) 14 14 q13.3 36604916 36645857 - 36135710 36176651 - 8554872 22586128 100886964 ABBA01061519;ABBA01061520;AL162511;AMYH02029019;AMYH02029020;HG506104;JN689234;NR_049735 Hs.742592 RP11-259K15.4 ncrna HGNC:43959 614821 PROVISIONAL 1319156 PTCH1 patched 1 This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008] 9 9 9 q22.3 68646306 68719962 - 98205264 98279247 - 95442982 95516965 - 1580863;2324911;704355;2324910;5510013;5510026;6480464;6484113;6907045;7240710;8554872;8699517 16804411;19396459;20635334;20716670;9422511 10200051;10874314;11001584;11231326;11278759;11286632;11331587;11718263;11836379;11941477;12007715;12192414;12203113;12204003;12241103;12407090;12477932;12516098;12635140;12874272;12925203;1348213;15164053;15308259;15459969;15492847;15502856;15534865;15565302;15581634;15592520;15598212;15712338;15769472;15780749;15888139;15905200;16088933;16109989;16203740;16229683;16322088;16344560;16419085;16645598;16675912;16777989;16780502;16867986;16931872;16934747;16945339;17258529;17295047;17310997;17461467;17487419;17597182;17597822;17850284;17950424;18059486;18068337;18068533;18272036;18302678;18391952;18436435;18502968;18538319;18543049;18679421;18754037;18830227;18854826;18990233;19002359;19008023;19074885;19077462;19213072;19221557;19266077;19287498;19287961;19351817;19362041;19414732;19453261;19465923;19473442;19521425;19557015;19561609;19564910;19618880;19673023;19728145;19730683;19913121;19937600;20010835;20012784;20050020;20068110;20237162;20301330;20301702;20346027;20371205;20538960;20546211;20546612;20561215;20583170;20609239;20628086;20634891;20690502;20858761;20881960;20937227;21059263;21127038;21129534;21138481;21188540;21188685;21206974;21210781;21234763;21266456;21368767;21389835;21424326;21507611;21514272;21618411;21651513;21699520;21861228;21861243;21889114;21906983;21931618;22007994;22069255;22077640;22183980;22201935;22221699;22313357;22340170;22357618;22407314;22456124;22797776;22829011;22911366;22945423;22952776;23169491;23284291;23313819;23317547;23349881;23371028;23440386;23493353;23761049;23766265;23780909;23935859;23951062;24073265;24131384;24204797;24250222;24335643;24369017;24961235;25092867;8647801;8658145;8681379;8782823;8840969;8889548;8906787;8981943;9341860;9620294;9811851;9926943 5727 F8VPA3;F8VQS6;F8VXL8;H0Y3B8;H0YHK0;H3BLX7;Q13635;Q59FG5 AB189436;AB189437;AB189438;AB189439;AB189440;AB209495;AB212827;AB212828;AB214500;AB233422;AB233423;AB233424;AB239329;ABBA01043615;ABBA01043616;ABBA01043617;ABBA01043618;AI358880;AI494442;AK124593;AK130256;AL161729;AMYH02021274;AMYH02021275;AY395758;AY395768;AY395772;BC043542;BF195352;BM974119;BX117041;CH471174;CR744004;DB093644;NG_007664;NM_000264;NM_001083602;NM_001083603;NM_001083604;NM_001083605;NM_001083606;NM_001083607;U43148;U59464;XM_005252102;XR_242599 AAC50496;AAC50550;AAH43542;AAI52920;AAR21238;AAR21239;AAR21240;BAC85893;BAD74184;BAD74185;BAD74186;BAD74187;BAD74188;BAD92732;BAE45300;BAE45302;BAE45303;BAE45304;BAF47711;BAF47712;EAW92631;EAW92632;NP_000255;NP_001077071;NP_001077072;NP_001077073;NP_001077074;NP_001077075;NP_001077076;Q13635;XP_005252159 Hs.494538 1341828;1685255;1705608;1787170;1789310;1789312;1789314;1789316;1789318;1789320;1789322;1789979;1789981;1796584;2131362;5022049;5491547 D9S1816;G67931;G67932;G67933;G67934;G67935;G67936;G67937;MARC_17597-17598:1030546407:1;PTCH_1064;RH92918;SHGC-156297;SHGC-83001;SHGC-8725;csnpptch-pcr11-1;csnpptch-pcr22-1;hmPTCH1 BCNS;FLJ26746;FLJ42602;HPE7;NBCCS;PTC;PTC1;PTCH;PTCH11 OTTHUMP00000021709;OTTHUMP00000021710;OTTHUMP00000242642;OTTHUMP00000242643;PTCH protein +12b;PTCH protein +4';PTCH protein -10;PTCH protein -3,4,5;patched homolog (drosophila);patched homolog 1 APPROVED protein-coding ENSG00000185920 HGNC:9585 03200 109400;601309;605462;610828 REVIEWED 1316821 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 The protein encoded by this gene binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, negatively affecting CD2-triggered T cell activation. The encoded protein appears to be a scaffold protein and a regulator of the actin cytoskeleton. It has also been shown to bind ABL1, PTPN18, WAS, CD2AP, and PTPN12. Mutations in this gene are a cause of PAPA syndrome. [provided by RefSeq, Jul 2008] 15 15 15 q24.3 54218936 54261238 + 77287021 77329673 + 76995124 77037332 + 1580863;6480464;6907045;7240710;8554872;8699517 11163214;11313252;11711533;11971877;12477932;12530983;14595024;15489334;15862967;16204241;16318909;16344560;16418535;16670297;16964398;17213252;17353931;17964261;18480402;18576390;19041431;19584923;19700023;19731031;19807924;19946888;20379614;21438098;21790734;22745667;24421327;24722188;9265651;9422760;9488710;9804817;9857189 9051 B4E1Z9;H0YKF1;H0YKY3;H0YLI2;H0YLM9;H0YLW8;H0YLX8;H0YNR2;H0YNS1;J3KPG6;O43586 AB451310;AB451440;ABBA01060558;ABBA01060559;AC090181;AF038602;AF038603;AK298733;AK304052;AK308462;AK309856;AK310072;AK310126;AK316220;AL110110;AMYH02030845;BC008602;CH471136;DB123759;JA885120;NG_007526;NM_003978;U94778;XM_006720736;XM_006720737;XM_006720738;XM_006720739;XR_429473;XR_429474 AAD00762;AAD11958;AAD11959;AAH08602;ABM82705;ABM85889;BAG60882;BAG64961;BAG70124;BAG70254;BAH14591;CCQ77685;EAW99213;EAW99214;EAW99215;NP_003969;O43586;XP_006720799;XP_006720800;XP_006720801;XP_006720802 Hs.129758 1764381;1854599 D15S1170;SHGC-147975 CD2BP1;CD2BP1L;CD2BP1S;H-PIP;PSTPIP CD2 antigen-binding protein 1;CD2 cytoplasmic tail-binding protein;CD2-binding protein 1;PAPAS;PEST phosphatase-interacting protein 1;proline-serine-threonine phosphatase-interacting protein 1 APPROVED protein-coding ENSG00000140368 HGNC:9580 05891 604416;606347 REVIEWED 8552624 PTCHD1-AS PTCHD1 antisense RNA (head to head) ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) X X p22.11 22277914 23311263 - 22259797 23293146 - 8554872 16344560;20844286;20932654 100873065 ABBA01072054;ABBA01072055;ABBA01072056;ABBA01072057;ABBA01072058;ABBA01072059;ABBA01072060;ABBA01072061;ABBA01072062;ABBA01072063;ABBA01072064;ABBA01072065;ABBA01072066;ABBA01072067;ABBA01072068;ABBA01072069;ABBA01072070;ABBA01072071;ABBA01072072;ABBA01072073;ABBA01072074;ABBA01072075;ABBA01072076;ABBA01072077;ABBA01072078;ABBA01072079;ABBA01072080;ABBA01072081;ABBA01072082;ABBA01072083;ABBA01072084;ABBA01072085;ABBA01072086;ABBA01072087;ABBA01072088;ABBA01072089;ABBA01072090;ABBA01072091;ABBA01072092;ABBA01072093;ABBA01072094;ABBA01072095;ABBA01072096;ABBA01072097;ABBA01072098;ABBA01072099;ABBA01072100;ABBA01072101;ABBA01072102;ABBA01072103;ABBA01072104;ABBA01072105;ABBA01072106;ABBA01072107;ABBA01072108;ABBA01072109;ABBA01072110;ABBA01072111;ABBA01072112;ABBA01072113;ABBA01072114;ABBA01072115;ABBA01072116;ABBA01072117;ABBA01072118;ABBA01072119;ABBA01072120;ABBA01072121;ABBA01072122;ABBA01072123;ABBA01072124;ABBA01072125;ABBA01072126;ABBA01072127;ABBA01072128;ABBA01072129;ABBA01072130;ABBA01072131;ABBA01072132;ABBA01072133;ABBA01072134;ABBA01072135;ABBA01072136;ABBA01072137;ABBA01072138;ABBA01072139;ABBA01072140;ABBA01072141;ABBA01072142;ABBA01072143;ABBA01072144;ABBA01072145;ABBA01072146;ABBA01072147;ABBA01072148;ABBA01072149;ABBA01072150;ABBA01072151;ABBA01072152;ABBA01072153;ABBA01072154;ABBA01072155;ABBA01072156;ABBA01072157;ABBA01072158;ABBA01072159;ABBA01072160;ABBA01072161;ABBA01072162;ABBA01072163;AC004470;AC004673;AC092832;AC108686;AC117517;AC135368;AMYH02039007;AMYH02039008;AMYH02039009;AMYH02039010;AMYH02039011;AMYH02039012;AMYH02039013;AMYH02039014;AMYH02039015;AMYH02039016;AMYH02039017;AMYH02039018;AMYH02039019;AMYH02039020;AMYH02039021;AMYH02039022;AMYH02039023;AMYH02039024;BX115199;BX293560;BX294437;DA355362;HG512460;KF459023;KF459024;KF459026;KF459028;KF459030;KF459036;NR_073010;Y10196 Hs.742479 DDX53-AS1;PTCHD1AS1;PTCHD1AS2 ncrna ENSG00000233067 HGNC:37703 VALIDATED 1317384 PTDSS2 phosphatidylserine synthase 2 Phosphatidylserine (PS) accounts for 5 to 10% of cell membrane phospholipids. In addition to its role as a structural component, PS is involved in cell signaling, blood coagulation, and apoptosis. PS is synthesized by a calcium-dependent base-exchange reaction catalyzed by PS synthases (EC 2.7.8.8), like PTDSS2, that exchange L-serine for the polar head group of phosphatidylcholine (PC) or phosphatidylethanolamine (PE) (Sturbois-Balcerzak et al., 2001 [PubMed 11084049]).[supplied by OMIM, May 2009] 11 11 11 p15.5 510044 553690 + 450280 491399 + 450280 491399 + 1580863;6480464;6907045 10938271;11084049;12477932;14984733;15489334;17081983;19014349;21890473;22939629 81490 E9PLE4;E9PS47;Q9BVG9 ABBA01015185;ABBA01015186;AC137894;AC138230;AK311723;AL834357;AMYH02024141;AMYH02024142;BC001210;BC015702;CH471158;NM_030783;XM_005253153;XR_242827;XR_242828 AAH01210;ABM82669;ABM85848;CAD39022;EAX02327;EAX02328;EAX02329;NP_110410;Q9BVG9;XP_005253210 Hs.731700 2161907 STS-F09598 FLJ46373;PSS-2;PSS2 OTTHUMP00000147629;ptdSer synthase 2;serine-exchange enzyme II APPROVED protein-coding ENSG00000174915 HGNC:15463 17927 612793 PROVISIONAL 1351607 PTENP1 phosphatase and tensin homolog pseudogene 1 (functional) The phosphatase and tensin homolog (PTEN) gene encodes a tumor suppressor that functions by negatively regulating the AKT/PKB signaling pathway. A highly homologous processed pseudogene of PTEN is found on chromosome 9 and regulates PTEN by both sense and antisense RNAs (Gene ID: 101243555). This long-noncoding RNA (lncRNA) acts as a decoy for PTEN targeting microRNAs and also exerts a tumor suppressive activity. [provided by RefSeq, Apr 2013] 9 9 9 p21 33605297 33609213 - 33673502 33677418 - 33673504 33677420 - 1580863 10208437;11886535;12477932;16368877;20577206;21048031;22005521;23435381;24707726;9326929;9393738;9439675;9467947;9620558;9794233 11191 AB009903;ABBA01065042;AF017999;AF019083;AF023139;AF343912;AL356489;AMYH02019425;BC038293;BY797336;NG_001337;NR_023917 AAB70558;AAC52017;BAA24090 Hs.493716 1729081;2109709;2162662 PTEN_234;Pten;WI-18385 PTEN-rs;PTEN2;PTENpg1;PTH2 psiPTEN APPROVED pseudo ENSG00000237984 HGNC:9589 613531 VALIDATED 7246138 PTENP1-AS PTENP1 antisense RNA The phosphatase and tensin homolog (PTEN) gene encodes a tumor suppressor that functions by negatively regulating the AKT/PKB signaling pathway. A highly homologous processed pseudogene of PTEN is found on chromosome 9 and regulates PTEN by both sense (GeneID: 11191) and antisense RNAs. This antisense RNA (asRNA) regulates PTEN transcription and mRNA stability. [provided by RefSeq, Apr 2013] 9 9 33677266 33688009 + 33677268 33688011 + 21112873;23435381 101243555 ABBA01065042;AL356489;AMYH02019425;BX374997;HG975435;NR_103745 Hs.598470 PTENP1as ncrna HGNC:48773 PROVISIONAL 1346483 PTF1A pancreas specific transcription factor, 1a This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008] 10 10 10 p12.2 23169055 23170776 + 23481460 23483181 + 23192531 23194252 + 633758;1580863;6480464;7240710;8554872;8699517 8703005 10768861;12185368;12617822;15164054;15543146;16354684;1720355;17928434;18834332;19650412;19741120;20668890;23339455;24212882;2612907;8861960;9851981 256297 Q7RTS3 ABBA01034469;AF181999;AL139281;AMYH02022445;BK000272;BM055347;CK904916;NG_009798;NM_178161 AAG09441;AAI72252;AAI72557;DAA01052;NP_835455;Q7RTS3 Hs.351503 5493093 UniSTS:484191 PACA;PAGEN2;PTF1-p48;bHLHa29 OTTHUMP00000019309;bHLH transcription factor p48;class A basic helix-loop-helix protein 29;class II bHLH protein PTF1A;exocrine pancreas-specific transcription factor p48;p48 DNA-binding subunit of transcription factor PTF1;pancreas transcription factor 1 subunit alpha;pancreas-specific transcription factor 1a APPROVED protein-coding ENSG00000168267 HGNC:23734 09526 607194;609069;615935 REVIEWED 1319019 PTDSS1 phosphatidylserine synthase 1 The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014] 8 8 8 q22 93460160 93532736 + 97274167 97346774 + 96261939 96334546 + 1580863;6480464;6907045;8699517;7240710;8554872 10938271;11084049;12477932;15489334;1748687;18854154;19014349;19322201;19946888;20379614;21139048;21890473;21906983;21963094;22505724;23125841;23251661;24241535;24457600;24816145;7584026 9791 B4DE85;J3KNR6;P48651 ABBA01037492;ABBA01037493;AK293036;AK293513;AMYH02018454;AMYH02018455;AMYH02018456;AP003465;BC002376;BC004192;BC004390;BC004502;BM459031;CH471060;D14694;HY087183;KC877275;NG_034054;NM_001290225;NM_014754 AAH02376;AAH04192;AAH04390;AAH04502;ABM82751;ABM85938;BAA03520;BAF85725;BAG56996;EAW91753;EAW91754;NP_001277154;NP_055569;P48651 Hs.292579 1339210;1649768;1718841;1735758;1762561;1767359;1773479;2107535;2114328;2167729 D8S1369E;D8S1772;D8S2131;PTDSS1__6947;RH123124;RH25262;SHGC-146371;STS-D14694;WI-20923;WI-9368 KIAA0024;LMHD;PSS-1;PSS1;PSSA OTTHUMP00000227218;ptdSer synthase 1;serine-exchange enzyme I APPROVED protein-coding HGNC:9587 17926 151050;612792 REVIEWED 1349248 PTGDR prostaglandin D2 receptor (DP) This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein is reported to be a receptor for prostaglandin D2, which is a mediator of allergic inflammation and allergic airway inflammation in asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 14 14 14 q22.1 32602359 32611369 + 52734310 52743808 + 52267592 52277090 + 1580863;2316816;6480464;6484113;7240710;8554872 19576888 10827082;11139429;11742277;12002745;12036966;12119603;12230502;12477932;12494276;12672054;12895603;1422574;15004188;15028279;15489334;15496624;15749909;16629782;17157653;17307163;17496729;17538632;17541272;17845306;17878378;17965752;18005048;18797183;18802357;18811623;18957281;19064572;19220773;19237393;19247692;19264973;19423540;19710676;19748656;19913121;20237496;20308056;20379614;20406964;20438785;20628086;20959461;20973774;21199159;21307858;21426314;21624751;21832046;21832049;21883277;21930295;22182808;23181793;23192614;23307871;23762421;23770605;24045676;24493589;24922638;7642548;8833158 5729 Q13258 ABBA01018165;AK026202;AL365475;AMYH02029189;BC040968;CD013871;CH471078;DQ418808;EF577397;NG_012118;NM_000953;NM_001281469;U31098;U31099;U31332;XM_005267891 AAC50176;AAC50177;AAC50178;AAH40968;ABD72608;ABQ52417;EAW65657;NP_000944;NP_001268398;Q13258;XP_005267948 Hs.306831 1337101;1337718;1685297;1794812;2108409;2158299 D14S588;D14S603;PMC58788P1;PTGDR_8575;RH71220;RH92017 AS1;ASRT1;DP;DP1;MGC49004;PTGDR1 OTTHUMP00000178986;PGD receptor;PGD2 receptor;prostaglandin D2 receptor APPROVED protein-coding ENSG00000168229 HGNC:9591 05254 604687;607277 REVIEWED 1323730 PTGDR2 prostaglandin D2 receptor 2 This gene encodes a G-protein-coupled receptor that is preferentially expressed in CD4+ effector T helper 2 (Th2) cells. This protein is a prostaglandin D2 receptor that mediates the pro-inflammatory chemotaxis of eosinophils, basophils, and Th2 lymphocytes generated during allergic inflammation. Single nucleotide polymorphisms in the 3' UTR of this gene have been associated with asthma susceptibility.[provided by RefSeq, Mar 2011] 11 11 11 q12-q13.3 57979245 57984291 - 60618398 60623444 - 60850925 60855971 - 1580863;5135015;5135020;5135019;5135018;5135021;5135022;5135017;6480464 18757520;19230460;19392992;19608418;19796209;21646789 10036181;11208866;11801628;12230502;12477932;14668348;15065763;15345705;15489334;15507393;15789622;16030019;16378605;17016057;17541272;17714552;17878378;17910949;18577758;18777142;18802357;18835884;19010788;19247692;19290788;19423540;19494281;19839971;19913121;20035740;20107720;20406964;20438785;20491797;20628086;20858065;20959461;21624751;21762224;21909091;21930295;22101342;22442685;22465717;22627365;22705147;22947041;23128233;23168411;23226366;23798571;24922638;24929001;2834384;9973380 11251 Q9Y5Y4 AB008535;ABBA01021516;AF118265;AF144308;AK291371;AK313849;AMYH02024875;AP000777;AY507142;BC096841;CH471076;NG_016170;NM_004778 AAD21055;AAD34539;AAH96841;AAR92484;BAA74518;BAF84060;EAW73902;NP_004769;Q9Y5Y4 Hs.299567 1680693;2144223;2151624 IB1021;RH11821;RH67900 CD294;CRTH2;DL1R;DP2;GPR44 G protein-coupled receptor 44;G-protein coupled receptor 44;OTTHUMP00000236889;chemoattractant receptor homologous molecule expressed on T helper type 2 cells;chemoattractant receptor-homologous molecule expressed on TH2 cells;putative G-protein coupled receptor 44 APPROVED protein-coding ENSG00000183134 HGNC:4502 16075 604837 REVIEWED 1352492 PTER phosphotriesterase related ENCODES a protein that exhibits hydrolase activity, acting on ester bonds (inferred); zinc ion binding (inferred); INVOLVED IN epithelial cell differentiation; FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 10 10 10 p12 16412177 16488943 + 16478942 16555744 + 16436943 16513745 + 1580863;6480464 12477932;14702039;15489334;16344560;17207965;19056867;19151714;20571754;20712903;20797317;21139048;21906983;21963094;22505724;22939629;24654937;24750591;9237666;9925913 9317 Q96BW5 ABBA01034568;ABBA01034569;ABBA01034570;ABBA01034571;AF212237;AK095486;AK314910;AL119009;AL360230;AMYH02022235;AMYH02022236;AW451393;AW451917;BC015092;BC050411;BU172463;BX648556;CH471072;DA146922;EF445015;NM_001001484;NM_001261836;NM_001261837;NM_001261838;NM_030664;XM_006717537;XM_006717538 AAH15092;AAH50411;AAK14923;ACA06055;ACA06056;ACA06057;ADQ33070;BAG37422;BAG53067;EAW86226;EAW86227;EAW86228;EAW86229;EAW86230;NP_001001484;NP_001248765;NP_001248766;NP_001248767;NP_109589;Q96BW5;XP_006717600;XP_006717601 Hs.444321;Hs.741924;Hs.745101 1340439;1655529;1754199;1768195;2218324 C1QL3_4481;D10S674;RH48169;SHGC-132234;STS-AA018608 HPHRP;RPR-1 OTTHUMP00000019213;OTTHUMP00000019214;parathion hydrolase-related protein;phosphotriesterase-related protein;resiniferatoxin-binding, phosphotriesterase-related protein-coding ENSG00000165983 HGNC:9590 16061 604446 VALIDATED 1342884 PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009] 14 14 14 q22 32648601 32662908 + 52781016 52795324 + 52314298 52328606 + 1580863;6480464;7240710 10462542;10521663;11093764;11834444;11951086;12036966;12051958;12149218;12228765;12466123;12477932;12743126;12788892;12933667;14517215;14562138;14699136;15044590;15347673;15489334;15539459;15970595;16267225;16461132;16607275;16879213;17028262;17078003;17290397;17384145;17496729;17525067;17533365;17555711;17611676;17728378;17877755;18005048;18083712;18086382;18254372;18296611;18319253;18537828;18666211;18790761;18792407;18818748;18829529;18989535;19019335;19050969;19169646;19273625;19336370;19407222;19527514;19542367;19582788;19782748;19789190;19808686;19913121;20018632;20086108;20140262;20200425;20237496;20304053;20347274;20357748;20382140;20452482;20484658;20516073;20551148;20587336;20628086;20673868;20705717;20889571;21052031;21081469;21111772;21209948;21419570;22099390;22244821;22276108;22329897;22551900;22580611;22706114;22929011;23048027;23069790;23242524;23337716;23786281;23861370;23898208;24146253;24471568;24561081;24586238;24728410;24812667;7759114;8078484;8163486;8250933;8889548 5732 G3V2Y6;P43116 ABBA01018165;AF134202;AL365475;AMYH02029190;AY275471;BC093927;BC093929;BE739744;BF029797;BM986745;BQ014559;CF132756;CH471078;CN484094;CR977661;DQ398948;NG_013082;NM_000956;U19487;X83868 AAA61681;AAD44177;AAH93927;AAH93929;AAP32303;ABD48958;CAA58749;EAW65652;EAW65653;EAW65654;NP_000947;P43116 Hs.2090 1721653;1798032;2167808 G59837;PTGER2_2277;SHGC-12634 EP2 OTTHUMP00000178987;PGE receptor EP2 subtype;PGE2 receptor EP2 subtype;prostaglandin E receptor 2 (subtype EP2), 53kD;prostaglandin E2 receptor EP2 subtype;prostanoid EP2 receptor APPROVED protein-coding ENSG00000125384 HGNC:9594 08905 176804;208550 REVIEWED 1342841 PTGER4P2 prostaglandin E receptor 4 (subtype EP4) pseudogene 2 INTERACTS WITH copper(2+) sulfate 9 q13 66494269 66503030 + 6480464 12477932 442421 ABBA01039238;ABBA01039239;AL512625;AMYH01021067;BC042539;BC068605;BC104192;BC104193;BC112986;BC112987;NR_024496 Hs.585349;Hs.741986 PTGER4P2-CDK2AP2P2 pseudo HGNC:44749 VALIDATED 733054 PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14477399 14480295 - 14583278 14586174 - 14472466 14475362 - 1580863;6480464;8554872 11235015;1160156;11951086;12477932;12642666;12788892;12841871;14562138;14744769;15489334;15855163;15886234;16331686;16393343;16670773;16754659;17496729;17525067;17611676;17877755;17906615;18516068;19064572;19336370;19625175;19913121;20178602;20452482;20587336;20628086;20647315;20673868;20858737;21052031;21447366;21813027;22110249;22162473;22276108;22474323;22555372;22924768;23494562;23525457;23842570;24333447;7759114;7938166;8253813 5731 P34995;Q05C32 AB065464;ABBA01029666;AC008569;AMYH02035620;AMYH02035621;AY275470;BC029768;BC039034;BC051286;CH471106;L22647;NM_000955 AAC37539;AAH29768;AAH39034;AAH51286;AAP32302;BAC05723;EAW84422;NP_000946;P34995 Hs.159360 1677120 RH71361 EP1 OTTHUMP00000037581;PGE receptor EP1 subtype;PGE receptor, EP1 subtype;PGE2 receptor EP1 subtype;prostaglandin E receptor 1 (subtype EP1), 42kD;prostaglandin E receptor 1, subtype EP1;prostaglandin E2 receptor EP1 subtype;prostaglandin e receptor 1;prostanoid EP1 receptor APPROVED protein-coding ENSG00000160951 HGNC:9593 08903 176802 REVIEWED 1347459 PTGER4P1 prostaglandin E receptor 4 (subtype EP4) pseudogene 1 9 9 p11.2 45362482 45362931 + 41279459 41279908 + 5735 AL845472;AMYH02020328;NG_032179 pseudo HGNC:9597 INFERRED 6480972 PTGER4P3 prostaglandin E receptor 4 (subtype EP4) pseudogene 3 9 9 68371630 68372011 - 63775896 63776277 - 24180609 100874378 ABBA01008945;AC246050;AL772155;NG_032202 pseudo HGNC:38498 INFERRED 69032 PTGES prostaglandin E synthase The protein encoded by this gene is a glutathione-dependent prostaglandin E synthase. The expression of this gene has been shown to be induced by proinflammatory cytokine interleukin 1 beta (IL1B). Its expression can also be induced by tumor suppressor protein TP53, and may be involved in TP53 induced apoptosis. Knockout studies in mice suggest that this gene may contribute to the pathogenesis of collagen-induced arthritis and mediate acute pain during inflammatory responses. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 103151433 103166162 - 132500615 132515344 - 129738336 129753065 - 1580863;1300048;2300080;2300083;2300079;2300088;2300094;2300093;2300107;2300116;2300106;2300089;1642457;2300085;2300108;2300087;5135302;6480464;6907045;8552701;8552712 11592775;12431630;12707354;14499677;14684572;14871981;15044444;16210398;16353170;16621493;16864802;17107625;17295901;17530714;20592629;22679221;23063076 10091672;10377395;10760517;12145315;12414902;12460774;12477932;12512699;12519887;12626523;12664599;12672824;12721500;12818425;12835322;12835414;12860389;14558087;14630996;14671209;14702039;14722058;15023995;15167446;15188353;15234907;15379214;15489334;15789615;15868626;15870920;16212965;16598755;16891468;16952028;17505022;17680542;17696939;17697149;17707523;17708577;17928629;17968936;18038187;18050215;18479189;18555503;18631945;18682561;18818748;18984580;19017494;19019335;19035518;19046748;19053751;19114118;19115247;19124506;19276290;19336370;19343046;19347995;19399588;19412621;19428335;19527514;19802674;19846775;19913121;20042640;20086108;20140262;20369883;20453000;20605783;20628086;20628624;20635443;20939114;21052031;21239760;21277633;21277871;21354147;21448233;21645444;21743491;21805999;21842276;21907186;21925143;21963094;22081067;22137787;22260630;22308510;22342541;22511203;22588264;22822059;23252918;23383108;23439561;23553915;23791007;23900502;23913682;24133193;8163486;8253813;9305847;9743208 9536 O14684;Q9GZZ5 ABBA01043946;AF010316;AF027740;AF217965;AF217972;AJ271802;AK127663;AK311947;AL590369;AL592219;AMYH02021745;BC008280;BC018201;BM550187;BQ927197;BX357872;BX396892;CB960064;EF543149;NM_004878 AAB82299;AAC39534;AAG17208;AAG17215;AAH08280;ABQ01233;BAG34888;CAB72099;NP_004869;O14684 Hs.146688 1798034;5022651;5037552;5118802 D11S2921;D11S3665;D8S2279;PTGES_2305 MGC10317;MGST-IV;MGST1-L1;MGST1L1;MPGES;PGES;PIG12;PP102;PP1294;TP53I12;mPGES-1 MGST1-like 1;OTTHUMP00000022345;glutathione S-transferase 1-like 1;microsomal glutathione S-transferase 1-like 1;microsomal prostaglandin E synthase 1;microsomal prostaglandin E synthase-1;p53-induced apoptosis protein 12;p53-induced gene 12 protein;tumor protein p53 inducible protein 12 APPROVED protein-coding ENSG00000148344 HGNC:9599 05528 605172 REVIEWED 2290200 PTGES2-AS1 PTGES2 antisense RNA 1 (head to head) FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin 9 9 9 q34.11 101542737 101544842 + 130890808 130892913 + 128128529 128130634 + 12477932;14702039 389791 Q8N1Y9 ABBA01043867;AK094537;AL590708;AMYH02021708;BC132745;BC132747;BC141829;BC151210;CH471090;NG_012488;NR_024425 EAW87747;Q8N1Y9 Hs.632678 APPROVED ncrna ENSG00000232850 HGNC:48711 18396 VALIDATED 731378 PTGER3 prostaglandin E receptor 3 (subtype EP3) The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 1 1 1 p31.2 69607257 69802711 - 71318036 71513497 - 70852353 71047808 - 737727;6480464;8554872 9751056 10336471;10947062;11006128;11235015;12477932;12642666;12699873;12743126;12788892;14562138;14699136;15290741;15304361;15489334;15528329;16274459;16707103;16710414;17207965;17496729;17644362;17877755;18005048;18023986;18296611;18573679;18577758;18632791;18652829;18818748;18996083;19012178;19019335;19064572;19165680;19527514;19799610;19913121;20110411;20140262;20237496;20379614;20452033;20452482;20503412;20516073;20587336;20628086;20673868;20947153;21052031;21424266;21813027;21925169;21966456;22110249;22162473;22276108;22342278;22397921;22421267;22870195;22915243;23349487;23364535;23382691;23406763;23493387;23904482;24180609;2834384;7476918;7759114;7883006;7981210;8075855;8117308;8135729;8307176;9065782;9073510;9154343 5733 O00325;P43115;Q147X8;Q5CZ57 AB451481;ABBA01074473;ABBA01074474;ABBA01074475;ABBA01074476;AI273491;AK290634;AK315825;AL031429;AL050227;AL158087;AL700981;AMYH02001245;AMYH02001246;AMYH02001247;AX814544;AX814552;AX814554;AY387856;AY429108;BC024229;BC118578;BC118659;CH471059;CS173017;D38297;D38298;D38299;D38300;D38301;D86096;D86097;D86098;EF534325;JA738749;JA738751;JA738753;JA738755;JA738757;JA738759;JA738761;JA738763;JA738765;JA738767;KF454969;L26976;L27488;L27489;L27490;L32660;L32661;L32662;NG_029509;NM_001126044;NM_198714;NM_198715;NM_198716;NM_198717;NM_198718;NM_198719;NR_028292;NR_028293;NR_028294;S68874;S68875;S69200;S69326;U13214;U13215;U13216;U13217;U13218;X83857;X83858;X83859;X83860;X83861;X83862;X83863 AAA21130;AAA21131;AAA21132;AAA21133;AAA21134;AAA60076;AAA68191;AAA68192;AAA68193;AAB29854;AAB29855;AAB30208;AAC13372;AAC13373;AAC13374;AAD14026;AAH24229;AAI18579;AAI18660;AAQ90021;AAR07903;ABS57464;ADQ32123;BAA07416;BAA07417;BAA07418;BAA07419;BAA07420;BAA19949;BAA19950;BAA19951;BAA19952;BAA19954;BAA19955;BAA19956;BAA19957;BAA19958;BAA19959;BAF83323;BAF98716;BAG70295;CAA58737;CAA58738;CAA58739;CAA58740;CAA58741;CAA58742;CAA58743;CAE83503;CAE83507;CAE83508;CAJ33690;CCF77027;CCF77028;CCF77029;CCF77030;CCF77031;CCF77032;CCF77033;CCF77034;CCF77035;CCF77036;EAX06436;EAX06437;EAX06438;EAX06439;EAX06440;EAX06441;EAX06442;EAX06443;EAX06444;EAX06445;EAX06446;NP_001119516;NP_942007;NP_942008;NP_942009;NP_942010;NP_942011;NP_942012;P43115 Hs.445000 1340816;1342015;1654345;1707464;1718445;1775681;1793168;2125937;2125939;2139532;2163443;2185433;7186209 AL009426;D1S1178;D1S192;D1S2139;D1S3321;D1S3367;D1S3370;PMC197251P3;RH122423;SHGC-84527;STS-Z40794;WI-22460 EP3;EP3-I;EP3-II;EP3-III;EP3-IV;EP3e;MGC141828;MGC141829;MGC27302;PGE2-R OTTHUMP00000011031;OTTHUMP00000011032;OTTHUMP00000011033;OTTHUMP00000011034;OTTHUMP00000011035;PGE receptor EP3 subtype;PGE receptor, EP3 subtype;PGE2 receptor EP3 subtype;prostaglandin E receotor EP3 subtype 3 isoform;prostaglandin E2 receptor EP3 subtype;prostaglandin e receptor 3;prostaglandin receptor (PGE-2);prostanoid EP3 receptor APPROVED protein-coding ENSG00000050628 HGNC:9595 08906 176806 REVIEWED 737496 PTGDS prostaglandin D2 synthase 21kDa (brain) The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq, Jul 2008] 9 9 9 q34.2-q34.3 110384087 110388329 + 139871898 139876194 + 136977504 136981742 + 729554;1580863;1642582;1300048;1642584;1642580;1642581;6480464;6907045;7349365;8552701;8552712 11882588;15325247;15970590;16384826;1902577;22679221;23063076;23827367 10462696;10781097;11068878;11287775;11669522;11751991;12358155;12477932;12627223;12900000;1385416;15081423;15164053;15453544;15489334;15718494;15862967;16199891;16303743;16335952;16713569;17093043;17230501;1726844;17307169;17404210;17499437;17532558;17574780;17588556;17852800;18077799;18349703;18436228;18448869;18552976;18802357;18817855;18830622;19015601;19094210;19124506;19131342;19132521;19276290;19578796;19598000;19878301;19913121;19949816;19958607;20008150;20029029;20144489;20403807;20596612;20628086;20667974;20706999;21078624;21104585;21112970;21163901;21192373;21271676;21325722;21501068;21603615;21745310;21988832;22248185;22299829;22342541;22370065;22498882;22664386;22677050;22745274;22818840;22960220;22989106;23076868;23291589;23328707;23335043;23518194;23526831;23698027;24493589;7689714;7692978;8163486;8253813;8300593;8336134;8336140;8599604;8761996;8889548;9065498;9162076;9405674;9475419;9844724 5730 H0Y4L4;H0Y5A1;P41222;Q5SQ11;Q5SQ12 AA621632;ABBA01022734;AI659247;AK075333;AK312817;AL807752;AMYH02021914;AMYH02021915;AY026356;BC005939;BC041463;BG037037;BM686612;BT019921;BT019922;CH471090;DQ297141;M61900;M98538;M98539;NM_000954 AAA36494;AAB51074;AAH05939;AAK07679;AAV38724;AAV38725;ABB84464;BAG35674;BAG52113;EAW88321;EAW88322;EAW88323;NP_000945;P41222 Hs.446429 1336264;2116388;5016846 D9S905;RH93947;STS-M98539 L-PGDS;LPGDS;PDS;PGD2;PGDS;PGDS2 OTTHUMP00000022638;OTTHUMP00000022640;OTTHUMP00000022642;PGD2 synthase;beta-trace protein;cerebrin-28;glutathione-independent PGD synthase;glutathione-independent PGD synthetase;lipocalin-type prostaglandin D synthase;lipocalin-type prostaglandin-D synthase;prostaglandin D synthase;prostaglandin d2 synthase;prostaglandin-D2 synthase;prostaglandin-H2 D-isomerase APPROVED protein-coding ENSG00000107317 HGNC:9592 08904 176803 REVIEWED 1321966 PTGES2 prostaglandin E synthase 2 The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq, Jun 2009] 9 9 9 q34.11 101534900 101542641 - 130882972 130890741 - 128120693 128128462 - 1580863;6480464;6484113;6907045;8552701;8552712 22679221;23063076 11076863;11256614;11847219;11866447;12050152;12477932;12804604;12835322;14702039;15164053;15231747;15489334;15489336;15879117;16341674;16381901;16714329;17266179;17314511;17566096;17585783;17697149;17979097;19064572;19268562;19336370;19347995;19371221;19412621;19664621;20000738;20877624;21139048;21890473;21906983;21963094;22939629;23000965;23275563;24467603;25027693;8125298;8300593 80142 A6NHH0;B3KPZ2;B4DWP1;Q9H7Z7;X6RJ95 ABBA01043867;AK024100;AK057049;AK223520;AK301618;AL525982;AL590708;AMYH02021708;AW073370;BC009397;BC009456;BC011613;BE797008;BG481657;BG823488;BI761840;BI826720;BM739176;BQ889675;BX493085;CH471090;NG_012488;NM_001256335;NM_025072;NM_198938;XM_005252239 AAH09397;AAH09456;AAH11613;ABM82830;ABM86016;BAB14826;BAD97240;BAG51854;BAG63103;CAL37443;EAW87741;EAW87742;EAW87743;EAW87744;EAW87745;EAW87746;NP_001243264;NP_079348;NP_945176;Q9H7Z7;XP_005252296 Hs.495219 1758145;2119327 RH68883;SHGC-147521 C9orf15;FLJ14038;GBF-1;GBF1;MGC11289;PGES2;mPGES-2 GATE-binding factor 1;OTTHUMP00000022231;OTTHUMP00000022232;OTTHUMP00000215363;gamma-interferon-activated transcriptional element-binding factor 1;membrane-associated prostaglandin E synthase 2;microsomal prostaglandin E synthase 2;microsomal prostaglandin E synthase-2 APPROVED protein-coding ENSG00000148334 HGNC:17822 07458 608152 REVIEWED 736498 PTGER4 prostaglandin E receptor 4 (subtype EP4) The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq, Jul 2008] 5 5 5 p13.1 40568598 40582403 + 40680032 40696962 + 40679930 40696860 + 1581283;1581284;1580863;6480464;5147913;6483518;6483535;6483551;6483532;6483525;6483526;6483537;6483524;6483530;8554872 15201706;16020747;20833794;20860016;21371033;21383594;21743469;21818367;21965326;22044482;22198478;22570740 10880739;11093764;11344234;11423555;11470276;11597569;11706038;11782353;11876748;11948128;11951086;12036966;12149218;12215436;12228765;12477932;12566441;14517215;14709160;15100359;15290741;15347673;15489334;15528329;15970595;16424369;16428339;16432186;16574793;16857763;17046175;17130837;17290397;17447842;17496729;17525067;17611676;17631291;17684544;17877755;18005048;18083712;18086382;18254372;18270204;18319253;18516068;18587394;18797183;18802112;18829529;19227010;19273625;19336370;19407222;19407341;19444759;19445930;19453261;19525953;19558693;19760754;19879194;19913121;20014019;20018632;20086108;20145136;20222910;20237496;20353998;20452482;20484658;20503412;20549515;20551148;20561984;20587336;20628086;20673868;20846217;20962850;20970516;21052031;21071691;21072187;21081469;21102463;21111772;21297633;21365278;21424266;21589857;21600299;21681739;21683675;21723865;21832044;21833088;21890473;22037551;22080750;22199300;22276108;22353936;22362924;22412388;22570697;22580611;22695889;22704539;22706114;22732652;22924768;22936669;23090667;23128233;23242524;23300802;23337716;23364535;23613969;23619266;23759445;23817569;24069348;24133193;24146253;24467603;24586238;7759114;8078484;8163486;8250933;8661119;8855294;8862514;9214685 5734 A0PJF5;P35408 ABBA01024220;AC093264;AMYH02011212;AY429109;BC027934;BC101534;BC113523;BM312677;BQ029720;CD000197;CH471119;D28472;DQ400918;JA738687;L25124;L28175;NM_000958;X97873;XM_005248326;XM_005248327 AAA36434;AAA36438;AAH27934;AAI01535;AAI13524;AAR07904;ABD48960;ADR83198;BAA05834;CAA66463;CCF76996;EAW55996;EAW55997;NP_000949;P35408;XP_005248383;XP_005248384 Hs.199248 1785660;1794314;1796586;1853471;2146623;2164195;2167742 D5S1920;PMC311006P6;PTGER4_1066;SHGC-64757;STS-L25124;STS-N31927;STS-N92884 EP4;EP4R;MGC126583 OTTHUMP00000119996;PGE receptor EP4 subtype;PGE receptor, EP4 subtype;PGE2 receptor EP4 subtype;prostaglandin E2 receptor EP4 subtype;prostanoid EP4 receptor APPROVED protein-coding ENSG00000171522 HGNC:9596 03350 601586 REVIEWED 6480561 PTGES3P1 prostaglandin E synthase 3 (cytosolic) pseudogene 1 1 1 1 p22.2 87814599 87816435 - 89568802 89570637 - 89103119 89104954 - 11181995 284672 ABBA01045589;AC104459;AMYH02001434;CH471097;NG_007034 EAW73147 2123227 SHGC-75126 PTGES3P pseudo HGNC:43824 INFERRED 6483690 PTGES3L prostaglandin E synthase 3 (cytosolic)-like 17 17 q 41120105 41132545 - 42968088 42980528 - 6480464 11181995;14702039;16344560 100885848 B9A003;C9JG77;E9PB15;H7C1Q7;K7N7A2 ABBA01006395;AC055866;AK056965;AK093402;AMYH02033445;BG776211;BU631064;CH471152;DA900052;DC329857;NM_001142653;NM_001142654;NM_001261430 E9PB15;EAW60905;NP_001136125;NP_001136126;NP_001248359 Hs.317403 1690628;5015961 D15S1477;RH99229 FLJ32403;FLJ36083 prostaglandin E synthase 3-like;putative protein PTGES3L protein-coding ENSG00000267060 HGNC:43943 VALIDATED 6483691 PTGES3L-AARSD1 PTGES3L-AARSD1 readthrough This locus represents naturally occurring readthrough transcription between the neighboring PTGES3L (prostaglandin E synthase 3 (cytosolic)-like) and AARSD1(alanyl-tRNA synthetase domain containing 1) genes on chromosome 17. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, May 2012] 17 17 q 41102543 41132545 - 42950526 42980528 - 6480464 11181995;11230166;12477932;14702039;17974005;20967262;24324551;7545954 100885850 C9J5N1;C9JUA3;H7C054;L7N2F6;Q9BTE6 ABBA01006395;ABBA01006396;ABBA01006397;ABBA01006398;AC055866;AF039235;AI312767;AK094084;AK295447;AMYH02033442;AMYH02033443;AMYH02033444;AMYH02033445;BC004172;BC019324;CH471152;NM_001136042;NM_025267 AAH04172;AAH19324;ACE86487;ACE87168;BAG52811;BAG58385;EAW60903;EAW60904;EAW60906;NP_001129514;NP_079543 Hs.317403 FLJ36765;FLJ56441;MGC2744;MGC4371 protein-coding ENSG00000108825 HGNC:43946 VALIDATED 6480562 PTGES3P3 prostaglandin E synthase 3 (cytosolic) pseudogene 3 4 4 4 q33 168045638 168046325 - 170712300 170712987 - 169791149 169791836 - 11181995 441050 ABBA01070343;AC079768;AC106878;AMYH02010483;CH471056;NG_007035 EAX04779 PTGES3P pseudo HGNC:43823 INFERRED 1606321 PTGES3 prostaglandin E synthase 3 (cytosolic) ENCODES a protein that exhibits prostaglandin-E synthase activity; telomerase activity; unfolded protein binding; INVOLVED IN chaperone cofactor-dependent protein refolding; prostaglandin biosynthetic process; RNA-dependent DNA replication; PARTICIPATES IN aldosterone signaling pathway; cortisol signaling pathway; estrogen signaling pathway; ASSOCIATED WITH Atherosclerosis; Breast Neoplasms; Oligodendroglioma; FOUND IN cytoplasm; extracellular vesicular exosome; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; albendazole 12 12 12 q13.3 56709596 56735126 - 57057125 57082138 - 56663341 56688408 - 4892102;5144125;2300108;5688064;5688067;5688057;5688075;6480464;7421504;8552701;8552712 12707354;14736553;16192391;16610357;18451092;19347995;20847343;21784126;22679221;23063076 10095121;10197982;10207098;10581266;10691735;10811660;10922363;11013261;11056392;11259606;11274138;11447118;11531413;11597177;11809754;11812147;11879970;12077419;12135483;12477932;12853476;14507910;14702039;14761955;15319539;15342556;15489334;15916966;16087666;16094384;16344560;16403413;16723087;16807684;16809759;16916647;17081983;17110338;17283187;17353931;17697149;18029348;18388150;18723680;18854154;19001348;19167051;19254810;19738201;19740745;19751963;19875381;19996313;20039095;20159553;20385819;20661446;20959453;21139048;21183720;21502318;21691801;21853119;21890473;21906983;21963094;21988832;22074947;22139419;22174317;22190034;22277657;22315411;22505724;22677230;22729780;22759865;22863883;22899854;22939629;23000965;23022381;23413029;23438482;23602568;23741051;24250222;24816145;25036637;8114727;8772199;8889548;9148915;9222609;9261129;9727490;9817749 10728 B4DDC6;Q15185 ABBA01008433;AC117378;AK098214;AK291945;AK293139;AK295208;AK298147;AK298160;AL603017;AMYH02026572;AMYH02026573;AMYH02026574;BC003005;BC021167;BG927063;BM541503;BP194632;BU167210;BU732883;CA773263;CH471054;DA556848;L24804;NM_001282601;NM_001282602;NM_001282603;NM_001282604;NM_001282605;NM_006601;NR_104219;XM_005268576;XM_006719199;XR_245889;XR_429072;Z69891 AAA18537;AAH03005;AAH21167;ABM87709;ABW03847;BAF84634;BAG53594;BAG56687;BAG58204;BAG60423;BAG60433;EAW96953;EAW96954;EAW96955;EAW96956;EAW96957;EAW96958;NP_001269530;NP_001269531;NP_001269532;NP_001269533;NP_001269534;NP_006592;Q15185;XP_005268633;XP_006719262 Hs.50425 1672160;1681584;2123227;2129790;2137837;2189539;5015961;5017607 D15S1477;G29926;PTGES3;RH45308;RH92953;SHGC-23727;SHGC-75126;UniSTS:234880 P23;TEBP;cPGES Hsp90 co-chaperone;OTTHUMP00000243285;OTTHUMP00000243286;OTTHUMP00000243287;OTTHUMP00000243288;OTTHUMP00000243289;cytosolic prostaglandin E synthase;cytosolic prostaglandin E2 synthase;progesterone receptor complex p23;prostaglandin E synthase 3;telomerase-binding protein p23;unactive progesterone receptor, 23 kD protein-coding ENSG00000110958 HGNC:16049 06138 607061 VALIDATED 737369 PTGFR prostaglandin F receptor (FP) The protein encoded by this gene is member of the G-protein coupled receptor family. This protein is a receptor for prostaglandin F2-alpha (PGF2-alpha), which is known to be a potent luteolytic agent, and may also be involved in modulating intraocular pressure and smooth muscle contraction in uterus. Knockout studies in mice suggest that the interaction of PGF2-alpha with this receptor may initiate parturition in ovarian luteal cells and thus induce luteolysis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p31.1 77196263 77245909 + 78956728 79006386 + 78476247 78540701 + 1580863;6480464;8554872 10575000;11951086;12477932;12519077;14746914;14764825;14984197;15028279;15118249;15489334;15651980;15748887;16061484;16096282;16378246;16710414;16754659;16855208;16911823;17467803;17478553;17496729;17582204;18316157;18508192;18577758;18587449;18703533;18818748;19019335;19280705;19289115;19336370;19347709;19527514;19782748;19819266;19913121;20008143;20092633;20140262;20237496;20379614;20519365;20536573;20628086;20816914;22060278;22182935;22919060;23356224;23382691;24376456;24457363;7759114;7988697;8163486;8253813;8300593;9235889;9341156;9918852 5737 F2Z2Z6;P43088 AB041713;AB201108;ABBA01074390;ABBA01074391;AF004021;AK292845;AK312816;AL136324;AMYH02001315;AMYH02001316;AY337000;AY485530;BC112965;BG771316;BQ897935;CA429969;CD013876;CH471059;CS008570;CS008582;H02113;L24470;NM_000959;NM_001039585;XM_006710781;XR_426624 AAA17684;AAB63152;AAI12966;AAQ76788;AAR84381;ABM81883;ABM85046;BAA94756;BAE03222;BAF85534;CAI53641;CAI53647;EAX06350;EAX06351;NP_000950;NP_001034674;P43088;XP_006710844 Hs.654365 1339624;1759289;1770972;1779832;1792942;1857627;2136048;2182346;5014649 D1S2876;G15961;G16225;PMC170950P7;SHGC-12571;SHGC-150722;SHGC-153836;SHGC-75020;SHGC-75045 FP;MGC120498;MGC46203 OTTHUMP00000011218;OTTHUMP00000011219;OTTHUMP00000037508;PGF receptor;PGF2 alpha receptor;PGF2-alpha receptor;prostaglandin F2 alpha receptor;prostaglandin F2-alpha receptor;prostaglandin f receptor;prostaglandin receptor (2-alpha);prostanoid FP receptor APPROVED protein-coding ENSG00000122420 HGNC:9600 08988 600563 REVIEWED 733934 PTGFRN prostaglandin F2 receptor inhibitor INVOLVED IN lipid particle organization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell surface; INTERACTS WITH methyl methanesulfonate; paracetamol; progesterone 1 1 1 p13.1 115712896 115761542 + 117452689 117532972 + 116910067 116990350 + 69949;1580863;6480464;8554872 8655148 10718198;11087758;11278880;11673522;12477932;14702039;16303743;16537545;16690612;17407154;17960739;19581412;19703604;19850283;20932654;21206492;22268729;22939629;23383108;8804121;9643346 5738 Q9P2B2 AB014734;AB037857;ABBA01068496;ABBA01068497;AK001863;AK024785;AK074637;AL157904;AL445231;AMYH02001795;BC022235;BC042164;BC063317;BC098142;BC114520;BC139718;BC152454;CH471122;KF455024;NM_020440 AAH98142;AAI14521;AAI39719;AAI52455;AAI68364;BAA92674;BAB20271;BAC11104;EAW56662;EAW56663;NP_065173;Q9P2B2 Hs.418093 1644028;1654972;1662156;1674725;1675375;1772991;1856360;1857189;1858391;2136071 D1S2198;D1S2203;D1S3546;G34883;RH91725;SGC33573;SHGC-75379;SHGC-75388;SHGC-75389;U26664 CD315;CD9P-1;EWI-F;FLJ11001;FPRP;KIAA1436;SMAP-6 CD9 partner 1;OTTHUMP00000013816;glu-Trp-Ile EWI motif-containing protein F;prostaglandin F2 receptor negative regulator;prostaglandin F2-alpha receptor regulatory protein;prostaglandin F2-alpha receptor-associated protein APPROVED protein-coding ENSG00000134247 HGNC:9601 03124 601204 PROVISIONAL 736622 PTGIS prostaglandin I2 (prostacyclin) synthase This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 44825044 44889311 - 48120411 48184707 - 49503874 49568170 - 1580667;1580695;1298040;1580863;1300048;6480464;6907045;7240710;8552712;8699517;8693629;8554872 12372404;15684702;16094316;22679221 11130769;11281454;11339822;11368458;11551955;11780052;11924728;12040339;12193162;12213900;12414894;12414902;12428676;12477932;12562775;12664597;12741817;12751759;12924623;14702039;15115769;15128046;15182267;15489334;16007128;16081819;16406803;16537708;17020766;17070428;17210107;17221326;17303142;17374734;17635855;18081314;18814254;19040046;19046748;19056482;19064572;19065539;19124506;19147528;19187034;19265782;19276290;19327107;19336370;19534932;19578796;19719985;19789190;19913121;20159982;20346360;20348234;20357747;20452033;20453000;20628086;21035466;21052031;21832049;22072641;22109564;22219064;23807031;24225501;24605778;8185632;8630042;8812456;8831668;9367522 5740 Q16647;Q6LEN2 ABBA01052747;ABBA01052748;ABBA01052749;AF297048;AF297049;AF297050;AF297051;AF297052;AK055640;AL118525;AMYH02037212;AMYH02037213;BC101809;BC101811;BC143381;BX640942;CH471077;D38145;D83402;D84124;NG_007940;NM_000961 AAG31781;AAG31782;AAG31783;AAG31784;AAG31785;AAI01810;AAI01812;BAA07343;BAA11910;BAA28219;EAW75655;NP_000952;Q16647 Hs.302085 1682872;1712254;1774461;1792724;2114665;2124371;2185491;5014051;5015861;5022200;5022578;5024756;5037552;5109281;7185938 D10S16;D1S1423;D1S1425;D8S2278;D8S2279;G54035;L18426;PMC15869P2;RH66622;RH79833;RH80030;STS-D38145;WI-14359;WI-9354 CYP8;CYP8A1;MGC126858;MGC126860;PGIS;PTGI OTTHUMP00000031777;cytochrome P450, family 8, subfamily A, polypeptide 1;prostacyclin synthase;prostaglandin I2 synthase APPROVED protein-coding ENSG00000124212 HGNC:9603 09046 145500;601699 REVIEWED 732819 PTGR1 prostaglandin reductase 1 This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 9 9 9 q31.3 84811079 84861206 - 114312002 114362135 - 111549722 111599855 - 1580863;6480464 12432938;12477932;14702039;15164053;15489334;17449869;19056867;19595472;19913121;20628086;20804502;21139048;21906983;22939629;23314186;23878198;8576264 22949 F2Z3J9;F6XGT7;Q14914;Q5JVP2 AA876375;ABBA01042728;ABBA01042729;ABBA01042730;AK091948;AK289597;AK298379;AK309450;AK309866;AL135787;AL159168;AMYH02021478;BC035228;CH471105;D49387;NM_001146108;NM_001146109;NM_012212;XR_242577 AAH35228;BAA08382;BAF82286;BAG60615;EAW59074;EAW59075;EAW59076;EAW59077;EAW59078;NP_001139580;NP_001139581;NP_036344;Q14914 Hs.584864 1652637;1669167;1693750;1774788;2120614;2131440;5021872 A008V29;RH16615;RH66479;RH69266;SHGC-33630;SHGC-58823;sY3084 FLJ99229;LTB4DH;MGC34943;PGR1;PRG-1;ZADH3 15-oxoprostaglandin 13-reductase;NADP-dependent leukotriene B4 12-hydroxydehydrogenase;OTTHUMP00000021915;dithiolethione-inducible gene-1;leukotriene B4 12-hydroxydehydrogenase;zinc binding alcohol dehydrogenase domain containing 3 APPROVED protein-coding ENSG00000106853 HGNC:18429 03173 601274 REVIEWED 69119 PTEN phosphatase and tensin homolog This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. [provided by RefSeq, Jul 2008] 10 10 10 q23.3 83369676 83474975 + 89623195 89728532 + 87863438 87970345 + 1581280;1581281;1581282;1302554;1302552;1302553;1302555;1302589;1300048;1302564;1302582;1302585;2290476;2291891;2289817;2292546;2301729;2292501;2292538;2292498;2292519;2292499;2292549;2313763;2292497;2292502;2289828;2298701;2292500;2292514;2292521;2290458;2292513;2292510;2292496;2292506;2292507;2292508;2292512;2292517;2292522;2292543;1643331;2292515;2292548;4143515;2326139;5133242;6480464;5490965;6484113;6907045;7240710;1358425;8554872;8693397;8699517 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5728 F6KD01;P60484 AA017584;ABBA01021960;AC063965;AF000734;AF067844;AF143315;AI825848;AK021619;AK024986;AK124525;AK130076;AK313581;AMYH02023500;BC005821;BG772190;BK008756;CA944942;CH471066;CR450306;DQ073384;HM849628;HM849629;HM849630;HM849631;HM849634;JA692802;JA902567;JB074276;JB759376;JF268690;KF455271;KJ534922;NG_007466;NM_000314;U92436;U93051;U96180;XM_006717926;XM_006717927 AAB66902;AAC08699;AAC51182;AAC51183;AAD13528;AAD38372;AAH05821;AAY57327;ABM83530;ABM86488;ABW03514;ADM26753;ADM26754;ADM26755;ADM26756;ADM26759;ADZ48535;AHW56562;BAG36351;CAG29302;CCF23296;CCV19970;CCV66764;CDI44160;DAA64601;EAW50172;EAW50173;EAW50174;EAW50175;NP_000305;P60484;XP_006717989;XP_006717990 Hs.500466 1336760;1647117;1653147;1656629;1679181;1687562;1700136;1715963;1718375;1729081;1749385;1792576;1793202;1795036;1795038;1795040;2109709;2114871;2162662;2191277;5113962;5122970 AFMA086WG9;D10S221;D10S610;G19918;MARC_17017-17018:1023291848:1;PMC154149P1;PMC20246P1;PMC88770P1;PMC88770P2;PMC88770P3;PTEN_234;Pten;RH103681;RH122724;RH122960;RH66859;RH79866;RH92455;SHGC-111133;STS-H71499;STS-W73720;WI-18385 10q23del;BZS;CWS1;DEC;GLM2;MGC11227;MHAM;MMAC1;PTEN1;TEP1 MMAC1 phosphatase and tensin homolog deleted on chromosome 10;OTTHUMP00000020032;mitochondrial PTENalpha;mitochondrial phosphatase and tensin protein alpha;mutated in multiple advanced cancers 1;phosphatase and tensin-like protein;phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 2314830 INSUL25_H APPROVED protein-coding HGNC:9588 03431 153480;155600;158350;176807;188470;275355;276950;601728;605309;607174;608089;613028 REVIEWED 1322052 PTGIR prostaglandin I2 (prostacyclin) receptor (IP) The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 43927252 43931881 - 47114585 47128375 - 46611328 46625118 - 1580863;6480464;6484113;8554872 10446129;10889200;11443126;11502878;11545623;11854299;11895442;12016224;12036966;12119468;12446735;12477932;12481546;12488443;12664600;12850828;15053924;15056772;15194446;15248755;15469414;15471868;15489334;15979846;15980156;16114876;16344560;16352729;16373414;16399867;16460020;16527812;16885208;16942748;17015447;17481829;17496729;17704830;18005048;18042246;18162607;18240029;18323528;18498773;18551041;18573679;18577758;18755267;18832025;19058789;19118563;19781057;19913121;20070947;20237496;20357748;20395296;20482519;20522800;20628086;21052031;21189259;21223948;21653824;22159995;22336225;22380928;22381139;22884631;22889411;22969152;23128233;23162015;23493750;23628440;24035274;7512962;7514139;7665161;7759114;7923647;7938166;8889548;9185236;9242534;9264479;9722557;9853255 5739 M0QXV5;M0QZI2;M0QZW0;P43119 ABBA01040981;AC093503;AK315278;AMYH02036230;AY242134;BC075814;BC110342;BQ185457;CH471126;CQ834246;D25418;D29634;D38127;DA652875;L29016;NM_000960;XM_005259093;XM_005259095;XR_243945;XR_430206 AAA36448;AAH75814;AAI10343;AAO92301;BAA05008;BAA06110;BAA07325;BAG37688;CAH05338;EAW57432;EAW57433;NP_000951;P43119;XP_005259150;XP_005259152 Hs.458324 1643784;1646500 D19S838;D19S985 IP;MGC102830;PRIPR PGI receptor;PGI2 receptor;prostacyclin receptor;prostaglandin I2 receptor;prostanoid IP receptor APPROVED protein-coding ENSG00000160013 HGNC:9602 08959 600022 REVIEWED 1601727 PTH2 parathyroid hormone 2 TIP39 is related to parathyroid hormone (PTH; MIM 168450) and PTH-related protein (PTHRP; MIM 168470) and is a ligand for PTH receptor-2 (PTHR2; MIM 601469) (John et al., 2002 [PubMed 11861531]).[supplied by OMIM, Mar 2008] 19 19 19 q13.33 46793291 46794318 - 49925671 49926698 - 49422414 49423441 - 6480464;8554872 10526330;10854439;11818570;11861531;12036966;12098667;12477932;12559132;12754053;14988434;15489334;18240029;19401215 113091 Q96A98 ABBA01032930;AC010619;AMYH02036317;AY037555;AY048588;BC093995;BC093997;CH471177;NM_178449 AAH93995;AAH93997;AAK68689;AAL06597;EAW52480;NP_848544;Q96A98 Hs.339845 5492863 UniSTS:483064 TIP39 tuberoinfundibular 39 residue protein;tuberoinfundibular 39 residue protein precursor;tuberoinfundibular 39 residues;tuberoinfundibular peptide of 39 residues APPROVED protein-coding ENSG00000142538 HGNC:30828 16328 608386 VALIDATED 730965 PTH2R parathyroid hormone 2 receptor The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 2 2 2 q33 203039476 203127142 + 209224569 209359231 + 208359845 208494506 + 1580863;6480464;8554872 10854439;11861531;12036966;12477932;12834174;14988434;15489334;15670850;18240029;18280230;18459453;18539702;19401215;21756942;21988832;22637743;23092913;24529757;7797535;8921382;9482662 5746 H7C0B0;P49190 ABBA01062711;AC012362;AC019185;AK294181;AK309827;AMYH02005662;AMYH02005663;AMYH02005664;AY497546;BC036811;BM808818;CH471063;CR747526;DB536374;KF456759;KF495708;NM_005048;NR_073601;U25128;U47124 AAA96796;AAC50157;AAH36811;AAR90849;AAY14871;AAY15091;ADR82689;BAG57499;EAW70451;NP_005039;P49190 Hs.570296 1704944;1753121;1778595;2110685;2161004;2185337 D2S2721;PTHR2_7862;RH70646;SHGC-31599;SHGC-68765;SHGC-79953 PTHR2 OTTHUMP00000163904;OTTHUMP00000206367;PTH2 receptor;parathyroid hormone receptor 2 APPROVED protein-coding ENSG00000144407 HGNC:9609 03276 601469 REVIEWED 731312 PTH1R parathyroid hormone 1 receptor The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] 3 3 3 p22-p21.1 46857742 46883797 + 46919236 46945289 + 46877746 46903799 + 729796;1599978;1599980;1580863;6480464;7207455;7207470;7207465;7207469;8554872;8699517 16036863;19395963;20703892;21777186;8020952;8703170;9054374 10487664;10523019;10709993;10770955;10854575;10913300;11726668;11850620;11932319;12036966;12075354;12107160;12220636;12359237;12368206;12403624;12477932;12592371;12595070;12933685;12947048;14729622;14871409;15016722;15294324;15489334;15523647;15609321;15611080;15670850;15744035;1602151;16029167;16099817;16213899;16236727;16274647;16369896;16492667;16508749;16813525;16816927;17038311;17200368;17202780;17227205;17276526;17321669;17406357;17410535;17500070;17511743;17872377;17884816;17885720;17904173;18240029;18261460;18280230;18285546;18375760;18395846;18539702;18541021;18559376;18698360;18946036;18976975;19061984;19188335;19190955;19346515;19369447;19453261;19608645;19674967;19707467;19727905;19730683;19913121;19952062;20060342;20080964;20139972;20152661;20172855;20424473;20489161;20628086;20654748;20656684;20734064;20890029;21312071;21404329;21445058;21518242;21672629;21756942;21832055;21898592;23124878;23297229;23300710;23314748;23868100;24058597;24300310;24870837;7701349;7745008;8197183;8386612;8397094;9108031;9178745;9649554;9737850;9745456;9817594;9927325 5745 E7EWE7;F2Z314;H7C0Q3;Q03431;Q0VGD7 AB065462;ABBA01024711;ABBA01024712;AC109583;AF077526;AMYH02006677;AY449732;BC031578;BC110388;BC112221;BC112247;BQ574694;CA412652;CH471055;L04308;NG_008864;NM_000316;NM_001184744;U17418;U22409;X68596;XM_005265342;XM_005265343;XM_005265344;XM_006713272 AAA36525;AAA56774;AAB60657;AAC27643;AAI10389;AAI12222;AAI12248;AAR18076;ADR83225;BAC05721;CAA48589;EAW64793;EAW64794;NP_000307;NP_001171673;Q03431;XP_005265399;XP_005265400;XP_005265401;XP_006713335 Hs.1019 1682477;1792496;2144372 PMC152287P1;RH80066;STS-L04308 MGC138426;MGC138452;PFE;PTHR;PTHR1 OTTHUMP00000164784;OTTHUMP00000209970;OTTHUMP00000209971;OTTHUMP00000209972;OTTHUMP00000209973;PTH/PTHr receptor;PTH/PTHrP type I receptor;PTH1 receptor;parathyroid hormone receptor 1;parathyroid hormone/parathyroid hormone-related peptide receptor;parathyroid hormone/parathyroid hormone-related protein receptor;seven transmembrane helix receptor APPROVED protein-coding ENSG00000160801 HGNC:9608 01347 168468 REVIEWED 736996 PTHLH parathyroid hormone-like hormone The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013] 12 12 12 p12.1-p11.2 33256594 33270557 - 28111017 28125664 - 27958084 27971983 - 1579870;1580863;6480464;6484113;7240710;8554872;8699517 11934857 10050767;10066803;10373465;10773581;10803599;10828849;10873655;10947864;11159841;11401507;11456271;11997185;12000745;12036966;12201218;12210735;12220636;12359237;12364464;12374685;12391194;12477932;12504010;12538599;12549623;12576923;12581888;12586762;12647214;12727200;12850281;12850290;12852260;12929929;12933685;12947048;14503917;14969386;15023531;15128746;15210588;15282196;15286039;15291755;15489334;15582709;15629138;15878959;15889157;16298826;16455237;16500729;16551631;16965770;17213971;17370040;17390372;17426287;17443683;17516841;17964713;18007586;18029348;18035481;18096456;18240029;18280230;18379031;18426836;18541021;18621740;18627264;18651620;18695921;18729185;19056930;1915066;19190955;19240061;19304784;19342773;19350667;19453261;19487464;19507249;19519497;1954916;19584267;19587161;19596235;19616583;19674967;19727413;19730683;19825997;19913121;19952062;19959711;20015959;20035059;20049852;20060342;20082139;20170896;20401668;20428761;20496422;20556927;20628086;20844958;20876711;20890111;21068146;21085597;21402056;21444150;21532883;21625386;21664243;21732369;21775817;21826652;21942940;22056386;22291434;22318950;22448974;22508574;22745236;22747683;22790219;22830401;2288637;22955522;22960231;22997493;23109045;23458685;23466453;23494914;23499737;23535729;23535733;23588777;23625795;23662774;23752183;23780896;23810363;23810909;23845990;23983616;24072746;24325915;24388013;24590291;24870837;25043053;2549037;2708388;2744490;2829195;2885845;2928340;3290897;3616618;7708054;8058749;8396010;8641188;8683730;8753751;8982748;90087;9008714;9048639;9108031;9144344;9391077;9801466;9832460 5744 F5GZD9;F5H485;P12272;Q53XY9 ABBA01068057;AC008011;AI569027;AI591151;AI760061;AK313476;AMYH02026248;BC005961;BG676028;BG679319;BG680355;BI752853;BI963162;BT007178;CH471094;CR541882;J03580;J03802;M17183;M24349;M24350;M24351;M26958;M26959;M26960;M34071;NG_023197;NM_002820;NM_198964;NM_198965;NM_198966;X14304;XM_005253434;XM_006719115 AAA60216;AAA60217;AAA60218;AAA60221;AAA60358;AAA60359;AAA60360;AAH05961;AAN76483;AAO49791;AAO49793;AAP35842;ABM87392;ABW03879;BAG36261;CAA32480;CAG46680;EAW96572;EAW96573;EAW96574;EAW96575;EAW96576;NP_002811;NP_945315;NP_945316;NP_945317;P12272;XP_005253491;XP_006719178 Hs.591159 1669939;1673573;1674607;1722245;1727487;1732715;1742963;1777726;1791762;1792546;1798040;2114451;2132085;2142056;2150991;2173958;2183176;2190617 D12S1337;D12S1941;D12S2029;G60028;G63001;GDB:217131;PMC123659P5;PMC153548P1;PTHLH;PTHLH_2350;RH17692;RH48084;RH48408;SHGC-17539;STS-AA035272;STS-J03802;STS-M24351;WI-9193 BDE2;HHM;MGC14611;PLP;PTH-rP;PTHR;PTHRP OTTHUMP00000240429;OTTHUMP00000240430;OTTHUMP00000240432;OTTHUMP00000240433;PTH-related protein;osteostatin;parathyroid hormone-like hormone preproprotein;parathyroid hormone-like peptide;parathyroid hormone-like related protein;parathyroid hormone-related protein;parathyroid hormone-related protein preproprotein APPROVED protein-coding ENSG00000087494 HGNC:9607 01348 168470;613382 REVIEWED 69107 PTH parathyroid hormone The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH). [provided by RefSeq, Jul 2008] 11 11 11 p15.3-p15.1 13639772 13643738 - 13513601 13517567 - 13492054 13496020 - 1580863;1598941;6480464;5135046;1598943;7242897;7242899;7242900;7242904;7242907;7242924;7242935;7242949;7240710;7207470;7242409;7242410;7242412;7242414;7242416;7242417;7242418;7242420;7242421;7242422;7242411;7242564;7242565;7242572;7242573;7242687;7242689;7242692;7242693;7242699;7242728;7242730;7242731;7242742;7242744;7242750;7207465;7207455;7242790;7242793;8554872;8655928;8699517 12046039;1302009;18480316;19395963;19570882;21335517;21777186;21826734;21939825;2212001;22312238;22517117;22581996;22634235;22647434;22688001;22777106;22859939;22902873;23043229;23066118;23121374;23161222;23168286;23211335;23243213;23261531;23344571;23345625;23447517;23460043;23467111;23470222;23486515;23499504;23528898;23529273;23534747;23543299;23548309;23548814;23585311;9054374 10499494;10523031;10623601;10837469;10913913;1125201;11278902;11467957;11551928;11814621;11918225;11956184;11984699;12036966;12195069;12207101;12364326;12369776;12403624;12477932;12490859;12893275;12905817;12914574;12947048;14506618;14718574;14730973;1474331;14969386;15035617;15070914;15070925;15080150;15186723;15227728;15240611;15297458;15340161;15472173;15489334;15504937;15514034;15515479;15639837;15707954;15769857;15808916;15824859;15826940;15890770;15917161;15962290;16081646;16105030;16117875;16169070;16272640;16362385;16412323;16475791;16677544;16682833;1672845;16762954;17121534;17351276;17696759;17823083;17976926;17990294;18056632;18061978;18165223;18166826;18240029;18279669;18280230;18283239;18285546;18348699;18499553;18539556;18551993;18583400;18627264;18649177;18676680;18782355;18798227;18821330;18945829;19019998;19057839;19170196;19230880;19250270;19370057;19384851;19386515;19397786;19453261;19524129;19539290;19557980;19565936;19570881;19625176;19672814;19674967;19690432;19692168;19696213;19723499;19809994;19874204;19913121;19918796;19965540;20005908;20056760;20097749;20156921;20349051;20452474;20471507;20498246;20558332;20578167;20601288;20628086;20634326;20639672;20641034;20654714;20654748;2069952;20808842;20809279;20820131;20872272;21082232;21178378;21203493;21248778;21306649;21383630;21389278;21389978;21426456;21465527;21576356;21590742;21611962;21656831;21705098;21777017;21881376;21888960;21932346;21956833;21968268;22059355;2215618;22190112;22337915;22355038;22377250;22405053;22407786;22442276;22456600;22540853;22582762;22763799;22972177;23111338;23123579;23168847;23190522;23228198;23286544;23348879;23393179;23493435;23509103;23525371;23596520;23606700;23609180;23635517;23701502;23814117;24133354;24171919;24247595;24626438;24700125;24779307;24877630;3005800;4474131;4521809;4721748;4833516;6220408;6885073;6950381;728431;7721880;7797503;7797535;8344299;8922395;90087;9108031;9482662;9927325 5741 P01270 A29146;AA843660;ABBA01061123;AC021269;AMYH02024350;BC096142;BC096143;BC096144;BC096145;BX103059;BX106232;CH471064;J00301;NG_008962;NM_000315;V00597 AAA60215;AAH96142;AAH96143;AAH96144;AAH96145;CAA01956;CAA23843;EAW68494;EAW68495;NP_000306;P01270 Hs.37045 1694910;1722377;1741903;1742573;2114600;2166767 G44342;G60260;GDB:186670;GDB:197901;PTH;STS-V00597 PTH1 OTTHUMP00000230966;parathormone;parathyrin;parathyroid hormone 1;prepro-PTH;preproparathyroid hormone APPROVED protein-coding ENSG00000152266 HGNC:9606 01345 146200;168450 REVIEWED 1319246 PTK6 protein tyrosine kinase 6 The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 20 20 20 q13.3 58840123 58849063 - 62159766 62168723 - 63528413 63537370 - 1580863;6480464;8554872 10430081;10913193;10980601;11114724;11330822;11780052;11997104;12121988;12297019;12477932;12482964;12725532;12833144;14676834;15056653;15471878;15489334;15539407;15572663;15870689;15951569;15961400;16179349;16273093;16344560;16568091;16651629;17910947;17997837;18029348;18077133;18296648;18719096;18781181;18829532;19304789;19393627;19401189;19439179;19621240;19661439;19913121;20026641;20162673;20554524;20606012;20628086;20687930;20929863;21240512;21380407;21479203;21603980;21832049;21923922;22084245;22231447;22547065;22705009;22849407;22939624;22974441;22989419;23027128;23291984;23352614;23497344;23535732;23707532;23758975;23814047;23856248;23928995;8036022;8247543;8940083;9284935;9333026;9749526 5753 Q13882 ABBA01021402;AK124082;AK301364;AK301691;AK315232;AL121829;AMYH02037461;AMYH02037462;AMYH02037463;BC035843;CH471077;DA762278;NM_001256358;NM_005975;U61412;X78549 AAC34935;AAH35843;BAG37660;BAG62908;BAG63163;CAA55295;EAW75262;EAW75263;NP_001243287;NP_005966;Q13882 Hs.51133 2129937;5015619;5021872;5022200;5037552 D11S3114;D8S2279;L18426;SHGC-35420;sY3084 BRK;FLJ42088 OTTHUMP00000031656;PTK6 protein tyrosine kinase 6;breast tumor kinase;protein-tyrosine kinase 6;protein-tyrosine kinase BRK;tyrosine-protein kinase BRK APPROVED protein-coding ENSG00000101213 HGNC:9617 03594 602004 REVIEWED 736739 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) This is one of two genes encoding similar enzymes that catalyze the conversion of arachinodate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. The protein may promote cell proliferation during tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 9 9 9 q32-q33.3 95781549 95806298 + 125132809 125157982 + 122370530 122395703 + 1580863;1300048;2300211;2300247;2300208;2300207;2300252;2300258;2290567;2300262;2300267;2300223;2300125;2300212;2300213;5147461;5143924;5688237;5688149;5688247;5688250;5688162;5688221;5687744;5687745;6480464;5688160;5688246;5688169;727386;5688249;5688239;5688240;5688156;5688223;5688266;5688234;5688244;5688245;5688242;5688236;6907045;5688147;8552695;8552712;8552701;8554872 10229132;10560656;10867793;11063829;11121536;11391707;11565600;11740205;12005397;12086957;12615701;12663931;12708469;12916703;14576556;15867369;16517580;16803521;17184185;17413918;17429720;17537981;17699727;17766473;17942724;18416056;18480553;18637715;19364335;19719848;20038946;20157512;21575628;21667309;21701788;22165968;22289897;22679221;23063076;23719833;9521170 10585854;10900130;10988074;10999846;11121413;11318639;11477109;11809691;11877441;11897504;11920472;11981837;12050227;12192304;12193665;12213900;12237309;12242329;12354292;12355421;12477932;12519124;12545150;12600754;12664596;12665651;12711701;12711844;12720297;12730088;12784332;12835322;12842195;12954496;1380156;14507922;14625295;14988266;15028279;15041270;15086459;15159324;15167967;15190260;15230350;15301234;15308583;15328521;15361066;15367379;15375804;15453269;15489334;15504548;15589421;15607906;15654517;15705965;15720413;15870920;1587858;15963707;16055872;16105649;16115753;16141368;16150050;16181776;16181984;16323955;16344560;16344721;16411757;16493486;16678543;16702043;16787416;16857763;16875891;16930602;17062130;17071117;17078001;17105783;17130490;17264103;17301694;17320986;17322116;1734857;17355643;17495879;17555580;17559347;17624243;17631383;17640058;17671743;17673564;17681165;17868881;17926541;17977913;18029348;18173552;18214026;18280718;18287876;18459455;18511850;18571838;18582172;18612540;18618313;18636124;18657230;18676680;18705313;18753249;18818748;18838483;18992148;18997734;19019335;19046748;19056482;19060633;19064572;1907252;19091535;19124506;19132198;19132974;19170196;19205707;19235530;19258012;19276290;19282863;19336370;19350112;19390185;19399588;19433337;19527514;19530321;19625176;19692168;19723114;19740098;19769727;19887674;19913121;19948975;20225218;20227045;20227521;20308035;20357271;20382140;20437058;20452482;20453000;20467438;20530583;20538124;20628086;20628624;20673868;20691446;20720307;21035466;21094252;21097517;21256536;21266582;21301321;21351261;21434767;21478098;21561892;21699462;21797823;21812955;22049022;22268729;22397921;22406532;22609818;22758658;22860421;22940005;22972377;22982857;23029430;23038044;23074965;23660496;23668350;23886173;23985963;24008976;24022467;24022862;24171795;24244288;24254970;24333447;24535852;24930730;2512924;7510883;7521167;7559624;7864630;8121489;8181472;8349699;8365485;8581564;8643612;8900446;9435560;9630216;9639560 5742 P23219;X6RJD6 ABBA01043713;AF086438;AF129755;AF440204;AI813317;AJ420464;AK290022;AK295221;AK304403;AK308222;AL162424;AL359636;AMYH02021589;AY449688;BC029840;CD014048;CD014049;CH471090;DA392280;DQ180740;DQ180741;DQ180742;GN341826;GN341828;HI519546;M31822;M59979;NG_032900;NM_000962;NM_001271164;NM_001271165;NM_001271166;NM_001271367;NM_001271368;NM_080591;S36219;S36271;S78220;U63846;XM_005252105;XM_006717192 AAA03630;AAA36439;AAB21215;AAB22216;AAB22217;AAC50632;AAH29840;AAL33601;AAR08907;ABA60097;ABA60098;ABA60099;ABM83367;ABM86578;BAF82711;BAG58214;BAG65237;CAY39332;CAY39333;CBX54354;EAW87529;EAW87530;NP_000953;NP_001258093;NP_001258094;NP_001258095;NP_001258296;NP_001258297;NP_542158;P23219;XP_005252162;XP_006717255 Hs.201978 1675341;1736692;1776589;1786998;1791392;1793110;1793294;1793296;1794766;1794768;1794770;1794772;1798036;1854023;2160479;2182028;5023545;5094682 D1S2077E;D9S2049;PMC109173P1;PMC196577P3;PMC20756P1;PMC20756P2;PMC55343P3;PMC55343P4;PMC55343P5;PMC55343P6;PMC55343P7;PMC55343P8;PTGS1_1841;RH45319;RH98513;SHGC-148713;SHGC-30513;SHGC-57364 COX-1;COX1;COX3;PCOX1;PES-1;PGG/HS;PGHS-1;PGHS1;PHS 1;PHS1;PTGHS OTTHUMP00000022052;OTTHUMP00000022053;PGH synthase 1;cyclooxygenase-1;prostaglandin G/H synthase 1;prostaglandin G/H synthase and cyclooxygenase;prostaglandin H2 synthase 1;prostaglandin-endoperoxide synthase 1 APPROVED protein-coding ENSG00000095303 HGNC:9604 07518 176805 REVIEWED 1321465 PTGR2 prostaglandin reductase 2 This gene encodes an enzyme involved in the metabolism of prostaglandins. The encoded protein catalyzes the NADPH-dependent conversion of 15-keto-prostaglandin E2 to 15-keto-13,14-dihydro-prostaglandin E2. This protein may also be involved in regulating activation of the peroxisome proliferator-activated receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 14 14 14 q24.3 54355472 54389115 + 74318534 74352168 + 73851831 73885465 + 1580863;6480464 12477932;14702039;15004468;15342556;15489334;17207965;17449869;18029348;18497997;19000823;20877624;22998775;24250222 145482 G3V288;G3V2R9;Q8N8N7;V9HW32 ABBA01030742;ABBA01030743;AC005520;AK096410;AK309188;AK311280;AMYH02029500;AMYH02029501;AMYH02029502;AY346133;AY424308;BC059364;BP357520;BU616297;BX641118;CH471061;DR158023;FJ224334;NM_001146154;NM_001146155;NM_152444 AAH59364;AAR05101;AAR82927;ACI46026;ADQ32982;BAC04781;CAE46055;EAW81132;EAW81133;EAW81134;EAW81135;NP_001139626;NP_001139627;NP_689657;Q8N8N7 Hs.632344 1651461;1656561;1737045;2135657;2138003;2164774;2165566;2218884;5015861;5022588;5118576;7185938 D10S16;D11S2791;D11S3430;D14S966;D5S1597E;G35825;G36347;G38098;RH11307;RH77867;ZADH1__4918 DKFZp686P10120;FLJ39091;FLJ99229;HEL-S-298;PGR2;PRG-2;ZADH1 15-oxoprostaglandin 13-reductase;15-oxoprostaglandin-delta13-reductase;OTTHUMP00000245588;OTTHUMP00000245589;OTTHUMP00000245591;OTTHUMP00000245594;epididymis secretory protein Li 298;zinc binding alcohol dehydrogenase, domain containing 1;zinc-binding alcohol dehydrogenase domain-containing protein 1 APPROVED protein-coding ENSG00000140043 HGNC:20149 09782 608642 REVIEWED 1347658 PTK8 PTK8 protein tyrosine kinase 8 8247543 5755 HGNC:9619 1346742 PTLAH patella aplasia-hypoplasia ASSOCIATED WITH Absent patella (inferred) 7240710 10417287 8830 1334736;1337337 D17S1604;D17S787 HGNC:9622 168860 1352168 PTMAP1 prothymosin, alpha pseudogene 1 6 6 6 p21.33 32199345 32201141 + 30601227 30603014 + 30633450 30635237 + 1612591 5758 ABBA01038051;AL662800;AL732442;AL845353;AMYH02013437;BX119957;BX908728;CR753328;CR759778;NG_004833;S41692 1776546 RH68972 APPROVED pseudo HGNC:9624 INFERRED 1344975 PTK7 protein tyrosine kinase 7 This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 6 p21.1-p12.2 44596273 44681681 + 43044006 43129458 + 43076268 43161720 + 1580863;2293492;6480464;8554872 17226800 12427550;12477932;12754519;14702039;15146197;15683231;16344560;17671748;17910947;18029348;18471990;20558616;20837484;21103379;21132015;21139048;21415598;21518755;21875946;21890473;21906983;22230326;22585737;22665490;22898210;23000965;23095747;23209741;23663482;24023307;24409301;24654231;7478540;8247543;8882711;9154124 5754 C9J9E8;C9JQR6;F8WCI7;F8WDG7;H0Y889;H0Y8F1;H7C4X3;H7C5L0;Q13308;Q86X91 AB209350;ABBA01050694;ABBA01050695;ABBA01050696;AF447157;AF447158;AF447162;AF447164;AF447167;AF447170;AF447171;AF447173;AF447174;AF447175;AF447176;AF531868;AF531869;AF531870;AF531871;AF531872;AI140260;AK055648;AK093428;AK097717;AK131487;AK291016;AK292589;AK296931;AK296953;AL157486;AL355385;AMYH02013640;AMYH02013641;AMYH02013642;BC002377;BC014626;BC046109;BC071557;BM811107;BQ881986;CA389442;CH471081;CN266652;DA048438;KF458160;NM_001270398;NM_002821;NM_152880;NM_152881;NM_152882;NR_072997;NR_072998;U33635;U40271 AAA87565;AAC50484;AAH46109;AAH71557;AAL39062;AAN04862;AAN04863;AAN04864;AAN04865;AAN04866;BAD92587;BAF83705;BAF85278;BAG51548;BAH12457;BAH12463;CAB75674;EAX04154;EAX04155;EAX04156;EAX04157;EAX04158;EAX04159;EAX04160;NP_001257327;NP_002812;NP_690619;NP_690620;NP_690621;Q13308 Hs.90572 1338991;1665241;1699636;1768513;1787640;2160033;2167640;2172404;5015881;5015961 D15S1477;D6S1582;D6S1883;GDB:335751;RH103422;RH12355;RH37456;SHGC-156006;STS-R52053;WI-5149 CCK-4;CCK4 OTTHUMP00000016421;OTTHUMP00000217005;OTTHUMP00000217013;OTTHUMP00000217014;OTTHUMP00000217015;OTTHUMP00000217016;PTK7 protein tyrosine kinase 7;colon carcinoma kinase 4;colon carcinoma kinase-4;inactive tyrosine-protein kinase 7;protein-tyrosine kinase 7;pseudo tyrosine kinase receptor 7;tyrosine-protein kinase-like 7 APPROVED protein-coding ENSG00000112655 HGNC:9618 03534 601890 REVIEWED 731006 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009] 1 1 1 q25.2-q25.3 159751694 159760309 - 186640944 186649559 - 186671812 186680427 - 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5743 P35354;Q6ZYK7 ABBA01027702;AF044206;AF276953;AJ634912;AK292167;AL033533;AMYH02002314;AY151286;AY229989;AY382629;AY462100;BC013734;BM978796;CH471067;D28235;DA277667;HC025790;HI519548;HM473188;KF455116;L15326;L34209;M90100;NG_028206;NM_000963;U04636;U20548;U44805 AAA35803;AAA57317;AAA58433;AAD14842;AAF85977;AAH13734;AAN52932;AAN87129;AAO38056;AAQ75702;AAR23927;ABW03398;ABW03733;ADJ56342;BAA05698;BAF84856;CAG25548;CBH19826;CBX54355;EAW91216;NP_000954;P35354 Hs.196384 1726165;1726167;1726169;1726171;1726173;1726175;1726177;1726179;1726181;1726183;1726185;1744469;1747657;1747659;1747661;1747663;1747665;1747667;1747669;1747671;1775930;1789324;1789326;1789983;1789985;1789987;1791296;1793926;1798038;1858142;5494061 D1S3433;G63789;G63790;G63791;G63792;G63793;G63794;G63795;G63796;G63797;G63806;G63807;G65464;G65465;G65466;G65467;G65468;G65469;G65470;G65471;G67929;G67930;GDB:455285;PMC100312P2;PMC309638P1;PTGS2-235F;PTGS2_236;SHGC-76038;csnpptgs2-pcr10-1;csnpptgs2-pcr6-1;csnpptgs2-pcr8-1 COX-2;COX2;GRIPGHS;PGG/HS;PGHS-2;PHS II;PHS-2;hCox-2 OTTHUMP00000033524;PGH synthase 2;cyclooxygenase 2b;cyclooxygenase-2;prostaglandin G/H synthase 2;prostaglandin G/H synthase and cyclooxygenase;prostaglandin H2 synthase 2 APPROVED protein-coding ENSG00000073756 HGNC:9605 02599 600262 REVIEWED 1354514 PTMAP3 prothymosin, alpha pseudogene 3 20 20 20 p11.23 18066992 18068259 + 17992436 17993701 + 18011792 18013057 + 1612591;2708378 5760 ABBA01054036;AL121585;AMYH02036774;J04800;NG_001180;S38640;S41695 APPROVED pseudo HGNC:9626 INFERRED 1350218 PTMAP4 prothymosin, alpha pseudogene 4 12 12 12 p13.31 10929049 10930232 - 9391909 9393092 - 9239313 9240496 - 1612591;21906983;2708378;8592501 5761 Q9NYD3 ABBA01012258;AC010175;AF257099;AMYH02025998;J04801;L20955;NG_001181;S38624 AAA36485;AAB08484;AAF71547 PTMA APPROVED pseudo HGNC:9627 INFERRED 1347548 PTMAP5 prothymosin, alpha pseudogene 5 13 13 13 q31.1 63165324 63166508 + 82264031 82265215 + 81689896 81691080 + 1612591;21906983 150928 ABBA01021721;AL354830;AMYH02028363;NG_004798;S38627 2131423 STS-J04802 pseudo HGNC:9628 INFERRED 733876 PTMA prothymosin, alpha INVOLVED IN transcription, DNA-templated (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; cobalt dichloride 2 2 2 q37.1 226349751 226354767 + 232573235 232578251 + 231708525 231713541 + 1580863;6480464 10675528;10854063;10891508;10938099;11282171;11310559;11528108;11727831;11759895;11897665;11967287;12062405;12477932;12522243;12634383;12943695;1426245;15242774;15325071;1545115;15489334;15556635;15607035;15657435;15861128;1612591;1632187;16341674;16353248;16478804;16628001;16669873;16940531;17012289;17046193;17081983;17188166;17876542;17929838;18029348;1814846;18240569;18391951;18781797;18856068;18976813;19279002;19322201;19471022;20121050;20430720;20977946;21044950;21139048;21573209;21693764;21890473;21906983;21954601;22059741;2209614;22110140;22125611;22463375;22505724;22609059;22863883;22939629;23000965;23151878;23318954;23359453;23398456;23568457;23602568;23695700;23857453;23859021;24250222;24733561;24816145;25015289;2708378;2785990;3466166;3467312;3474615;3532956;7588773;7913591;7916742;8125298;8415730;8485135;8592501;8814229;8886855;9099694;9334214 5757 B8ZZA1;B8ZZQ6;B8ZZW7;F8WCE8;H7C031;H7C2N1;P06454;Q53S24 ABBA01002043;ABBA01002044;AC073476;AF348514;AF452640;AK223605;AK314106;AMYH02005975;AY169282;BC003510;BC013859;BC022433;BC034921;BC051265;BC066905;BC070480;BC071647;BC071879;BC098420;BM839980;BX647606;CH471063;L21693;L21696;M14483;M14630;M14794;M26708;M67480;NM_001099285;NM_002823;S56449 AAA60213;AAA61182;AAA61183;AAA61184;AAA63239;AAA63240;AAB08706;AAB08709;AAD13882;AAH03510;AAH22433;AAH34921;AAH51265;AAH66905;AAH70480;AAH71647;AAH71879;AAH98420;AAK30146;AAO18189;AAP97694;AAY24150;ABM83889;ABM87209;BAD97325;BAG36799;EAW70969;EAW70970;EAW70971;EAW70972;EAW70973;EAW70974;EAW70975;NP_001092755;NP_002814;P06454 Hs.459927 5111921 G42925 MGC104802;TMSA OTTHUMP00000204423;OTTHUMP00000204424;OTTHUMP00000204425;OTTHUMP00000204427;OTTHUMP00000204428;OTTHUMP00000204433;gene sequence 28;prothymosin alpha;prothymosin, alpha (gene sequence 28) protein-coding ENSG00000187514 HGNC:9623 01778 188390 VALIDATED 1343132 PTMAP6 prothymosin, alpha pseudogene 6 20 20 20 q13.31 52016860 52017029 - 55276401 55276570 - 56701345 56701514 - 170542 ABBA01052907;AL121920;AMYH02037346;NG_001051 dJ539E24.2 pseudo HGNC:16573 INFERRED 1352728 PTMAP7 prothymosin, alpha pseudogene 7 INTERACTS WITH cobalt dichloride; kojic acid 14 14 14 q32 72545376 72546521 + 92492766 92493911 + 92026422 92027567 + 6480464 8592501 326626 ABBA01030463;AL049872;AMYH02029757;L21695;NG_002608;NG_016970 AAB08708 2131423 STS-J04802 pseudo HGNC:20031 INFERRED 1346204 PTK2B protein tyrosine kinase 2 beta This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p21.1 26131907 26277021 + 27168999 27316908 + 27311482 27459391 + 1580863;1642605;729912;2292571;1642610;1642621;1642607;1581409;1642647;2292558;2292575;6480464;6484113;6907045;8554872 10964954;11204274;11774117;12124218;15970382;16039993;16457699;16600505;17537919;18075463 10022914;10022920;10082674;10194422;10229084;10322114;10329689;10354709;10356363;10518561;10521452;10702271;10708762;10713673;10747947;10769033;10777553;10797305;10821841;10867021;10880513;10961871;10980697;11007796;11036077;11149930;11162638;11238453;11278472;11311138;11337490;11352632;11461120;11478920;11493697;11668182;11683411;11739373;11744621;11751905;11818507;11820787;11850124;11856738;11916084;11937718;12011061;12063569;12077257;12082274;12096713;12231407;12244133;12354773;12458207;12477932;12486027;12515814;12522270;12576483;12578912;12606503;12626562;12628756;12629171;12771146;12771190;12794117;12844492;12857973;12893833;12933673;12943720;12960231;14585963;14676843;14684825;14729602;14961028;14963038;14969582;15050747;15070849;15105428;15128501;15128873;15213840;15489334;15494733;15499613;15539082;15557335;15585656;15588985;15695828;15717329;15778498;15835820;15881658;15944312;15967096;16055703;16202977;16344560;16421571;16433632;16514607;16751776;16760434;16774943;16783820;16840719;16945503;16949788;16998626;1718748;17192257;17205062;17329398;17512525;17551499;17563746;17581868;17716864;17785844;17906699;17910947;17950644;18029348;18086875;18198130;18365874;18367725;18390748;18437915;18453587;18507841;18571765;18632858;18667434;18765415;18794150;18832579;18954908;19047047;19086031;19106639;19207108;19358827;19380485;19415692;19458494;19509258;19561089;19661918;19700666;19706888;19718025;19880522;19913121;19919693;19930834;20028775;20056178;20074345;20180987;20215112;20308428;20379614;20381867;20543098;20628086;20688918;20724588;20800603;20842205;20849950;20881009;20946164;20966971;21114537;21357692;21424732;21426305;21533080;21602932;21640103;21666110;21840393;21890473;22023045;22096562;22188814;22190034;22454420;22581436;22618716;22745829;22842493;22859931;22922962;22923218;22939624;23119100;23142219;23216754;23220172;23259602;23292187;23300847;23302305;23587524;23618355;23922106;23986795;24072693;24097630;24108181;24162737;24176282;24598361;25099615;7499242;7529876;7544443;7673154;8497321;8670418;8792832;8798684;8838818;8849729;8889548;8939945;8995252;9020138;9091579;9099734;9104812;9242628;9344848;9362541;9402324;9422762;9442086;9446638;9512511;9545257;9560226;9565592;9621077;9750131;9858471 2185 C9JHV9;E5RHL2;E5RJ77;E5RK84;E9PBI4;H0YB74;Q14289 AB209085;ABBA01005586;ABBA01005587;ABBA01005588;AC010856;AC124649;AF311103;AK128371;AL120380;AMYH02017669;AMYH02017670;AMYH02017671;AMYH02017672;AW130888;AY429564;BC036651;BC042599;BF796371;BM712234;BQ009032;CH471080;D45853;DA773624;DQ590775;KC877228;KF458717;KF458718;L49207;NG_029510;NM_004103;NM_173174;NM_173175;NM_173176;U33284;U43522;XM_005273447;XM_005273448 AAB47217;AAC05330;AAC50203;AAH36651;AAH42599;BAA08289;BAC87404;BAD92322;EAW63553;EAW63554;EAW63555;EAW63556;NP_004094;NP_775266;NP_775267;NP_775268;Q14289;XP_005273504;XP_005273505 Hs.491322;Hs.735450 1651353;1720509;1758109;1786690;1853676;2115645;2174113;2219570 D8S465;G59208;HSC25C022;PTK2B__5609;RH12429;RH69058;SHGC-147423;SHGC-154215 CADTK;CAK beta;CAK-beta;CAKB;FADK 2;FADK2;FAK2;FRNK;PKB;PTK;PYK2;RAFTK OTTHUMP00000128275;OTTHUMP00000162913;OTTHUMP00000225229;PTK2B protein tyrosine kinase 2 beta;calcium-dependent tyrosine kinase;calcium-regulated non-receptor proline-rich tyrosine kinase;cell adhesion kinase beta;focal adhesion kinase 2;proline-rich tyrosine kinase 2;protein kinase B;protein-tyrosine kinase 2-beta;related adhesion focal tyrosine kinase APPROVED protein-coding ENSG00000120899 HGNC:9612 03131 601212 REVIEWED 1342790 PTOS1 ptosis, congenital 1 (autosomal dominant) ASSOCIATED WITH Ptosis, Hereditary Congenital 1 (inferred) 7240710 9150162 5765 1335862;1339428;7185213 D1S1616;D1S447 HGNC:9631 178300 6770556 PTOV1-AS1 PTOV1 antisense RNA 1 19 19 19 47211352 47224383 - 50341902 50354933 - 49838645 49851676 - 14702039 100506033 ABBA01032908;AC018766;AK092213;AMYH02036332;BC043359;HG510937;KC877749;NR_040037 Hs.654814 2118785;2120490;2158557;5125327 RH17812;RH18268;RH36317;STS-AA018544 APPROVED ncrna ENSG00000268006 HGNC:44174 VALIDATED 1605722 PTMAP2 prothymosin, alpha pseudogene 2 5 5 5 q23.1 114256170 114257428 + 118309257 118310515 + 118973562 118974820 + 1612591;2708378 5759 ABBA01068985;AC008629;AMYH02012050;J04799;NG_002765;S41639;S41653;S41694 AAA63238 APPROVED pseudo HGNC:9625 INFERRED 1315896 PTOV1 prostate tumor overexpressed 1 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; all-trans-retinoic acid; arsenite(3-) 19 19 19 q13.33 47223866 47233449 + 50353667 50363999 + 49850433 49860742 + 6480464 11313889;12477932;12598323;12975309;14657022;15713644;15778465;16169070;16196087;17641689;18451224;20562859;21090589;21110951;21139048;21145461;21181414;21890473;21906983;21963094;21987572;22053931;22505724;22507319;23000965;23314748;23321499;23455324;8619474;9110174 53635 M0QX53;M0QY25;M0QYH6;M0QYH7;M0QYQ4;M0QZB9;Q86YD1 ABBA01032908;AC018766;AF218026;AF238381;AJ617480;AK057817;AK294366;AMYH02036332;AY358168;BC015172;BC042921;BC065486;CH471177;DB496336;NM_017432;U79287;XM_005258998;XM_005258999;XM_005259000;XM_006723244 AAF70635;AAG17268;AAH15172;AAH42921;AAQ88535;BAG57628;CAE84582;EAW52552;EAW52553;EAW52554;EAW52555;EAW52556;EAW52557;EAW52558;EAW52559;EAW52560;EAW52561;EAW52562;NP_059128;Q86YD1;XP_005259055;XP_005259056;XP_005259057;XP_006723307 Hs.587979 1778288;2118785 STS-AA018544;WI-15464 ACID2;DKFZp586I111;MGC71475;PTOV-1 activator interaction domain-containing protein 2;prostate tumor overexpressed gene 1;prostate tumor-overexpressed gene 1 protein protein-coding ENSG00000104960 HGNC:9632 17929 610195 PROVISIONAL 736479 PTN pleiotrophin ENCODES a protein that exhibits growth factor activity (inferred); heparin binding (inferred); protein phosphatase inhibitor activity (inferred); INVOLVED IN bone mineralization (inferred); learning (inferred); negative regulation of catalytic activity (inferred); PARTICIPATES IN syndecan signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH 1-nitropyrene; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 7 7 7 q33 131651010 131767463 - 136912088 137028606 - 137227341 137343860 - 1580863;6480464;6484113;8554872 10224041;10600521;10706604;11016659;11076863;11256614;11278720;11809760;11895915;11936877;12477932;12690205;1457401;1464612;14692702;14715276;15001987;15108072;15184074;15383276;15489334;15489336;15684595;15797857;15840658;15908427;15924335;15949466;15986444;16156786;16169070;16199533;16373346;16381901;16513091;16713569;16814777;16940294;16985521;1701634;17067552;17098867;1733956;17360581;17368428;17369488;17443289;17515817;17578909;17607711;17681947;1768439;17727841;17823238;17881084;17904822;17908800;17925408;18381592;18486628;18599487;18716876;19058221;19060246;19086053;19331172;19333097;19424734;19453261;19577542;19672298;19749796;19917672;20013808;20032204;20167557;20308059;20379614;20584902;20738847;20812209;20873783;21353611;21881556;21900206;21988832;22672269;2270483;22783964;22848377;22871361;23054143;23056589;23481101;23686309;23777859;2388713;7592855;8175719;8408430;8484754;8484780;8567685;8889548;9299545;9507007;9739080 5764 C9JR52;P21246 ABBA01001141;ABBA01001142;AC018728;AC078842;AK290488;AK313424;AMYH02016839;AMYH02016840;AMYH02016841;BC005916;BM968820;BT019692;CH236950;CH471070;CR450338;D90226;KF458611;KF458612;KF458617;KF510986;M57399;NM_002825;S50409;S60110;S60111;X52946;XM_005250515;XM_005250516 AAA35961;AAB24425;AAB26456;AAH05916;AAV38498;BAA14261;BAF83177;BAG36216;CAA37121;CAG29334;CAL37775;EAL24052;EAW83869;EAW83870;EAW83871;EAW83872;NP_002816;P21246;XP_005250572;XP_005250573 Hs.371249 1654966;1670867;1670972;1699954;1700480;1729083;1754925;2110687;2165249;2178536;2180805;7187447 A005E25;D7S2735;GDB:1317188;GDB:1318726;PTN;PTN_2365.2;Ptn;RH103585;RH103861;SHGC-141851;SHGC-56501;STS-AA001449 HARP;HB-GAM;HBBM;HBGF-8;HBGF8;HBNF;HBNF-1;NEGF1;OSF-1 OTTHUMP00000208521;OTTHUMP00000208522;heparin affin regulatory protein;heparin binding growth factor 8;heparin-binding brain mitogen;heparin-binding growth factor 8;heparin-binding growth-associated molecule;heparin-binding neurite outgrowth-promoting factor 1;neurite growth-promoting factor 1;osteoblast-specific factor 1;pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1) protein-coding ENSG00000105894 HGNC:9630 01199 162095 VALIDATED 9479504 PTOV1-AS2 PTOV1 antisense RNA 2 19 q13.33 50361378 50362614 - 101928378 AL050131;BU069456;CK903988;HG510940;HG510941;NR_110730;XR_244005;XR_248576;XR_253899 Hs.710295;Hs.732988 ncrna HGNC:51284 VALIDATED 5132549 PTP4A1P1 protein tyrosine phosphatase type IVA, member 1 pseudogene 1 2 2 2 152538812 152539326 + 158922057 158922571 + 158065545 158066059 + 100421652 ABBA01004849;AC005539;AMYH02005055;NG_023744 pseudo HGNC:41928 INFERRED 6483732 PTP4A1P2 protein tyrosine phosphatase type IVA, member 1 pseudogene 2 12 12 q24 133609449 133610756 + 133032863 133034170 + 100499563 ABBA01042533;AC073911;AMYH02027598;NG_027516 pseudo HGNC:41929 INFERRED 5686946 PTP4A1P3 protein tyrosine phosphatase type IVA, member 1 pseudogene 3 7 7 q21.13 90736706 90737103 + 91107391 91107788 + 12853948 100861469 ABBA01045825;AC002458;AMYH02016248;NG_032021 pseudo HGNC:41930 INFERRED 1352872 PTP4A1 protein tyrosine phosphatase type IVA, member 1 This gene encodes a member of a small class of prenylated protein tyrosine phosphatases (PTPs), which contain a PTP domain and a characteristic C-terminal prenylation motif. The encoded protein is a cell signaling molecule that plays regulatory roles in a variety of cellular processes, including cell proliferation and migration. The protein may also be involved in cancer development and metastasis. This tyrosine phosphatase is a nuclear protein, but may associate with plasma membrane by means of its prenylation motif. Pseudogenes related to this gene are located on chromosomes 1, 2, 5, 7, 11 and X. [provided by RefSeq, Jun 2013] 6 6 6 q12 62442473 62454047 + 64281917 64293493 + 63528021 63583588 + 6480464 10569806;10747914;10940933;11278933;11447212;11971983;12235145;12477932;12516958;12782572;14574404;14643450;15342556;15489334;15501285;15571731;16142898;16832410;16957164;17353931;17440740;17656357;18038187;18224294;18255255;18684031;18781797;18997816;19199380;19322201;19341304;20628624;21053359;21139048;21707506;21832049;21890473;21906983;21963094;21987572;22009749;22096494;22413991;22484636;22505724;22939629;23000965;23324950;23362275;9018080;9633825;9642300 7803 J3KSB4;Q5TCM7;Q93096 AB451314;AB451444;ABBA01023959;AF051160;AJ420505;AK312526;AL135905;AMYH02013814;AW136267;BC023975;BC045571;BF436021;BG717869;BI222469;BP264358;BU632706;CA427371;CH471143;CR749458;NM_003463;U48296;U69701;XM_006715563 AAB09080;AAB40597;AAC39836;AAH23975;AAH45571;ABM81641;ABM84821;ACE86520;ACE87199;BAG35425;BAG70128;BAG70258;CAH18292;EAW88494;EAW88495;NP_003454;Q93096;XP_006715626 Hs.227777;Hs.706850 1644365;1654495;1663883;1785890;1847797;1855318;1855565;2125807;2131227;5109659;7185319 D6S1138E.1;D6S1236E;D6S1860;D6S1862;D6S1901;RH46762;RH46792;RH47348;SHGC-13922;WI-21111 DKFZp779M0721;HH72;PRL-1;PRL1;PTP(CAAX1);PTPCAAX1 OTTHUMP00000016674;OTTHUMP00000016675;PTP(CAAXI);Protein tyrosine phosphatase IVA1;protein tyrosine phosphatase type IVA 1;protein tyrosine phosphatase type IVA protein 1;protein-tyrosine phosphatase 4a1;protein-tyrosine phosphatase of regenerating liver 1 APPROVED protein-coding ENSG00000112245 HGNC:9634 03349 601585 REVIEWED 5132554 PTP4A1P5 protein tyrosine phosphatase type IVA, member 1 pseudogene 5 X X X p21.3 31574432 31574942 - 27445838 27446348 - 27427721 27428231 - 100289380 ABBA01072645;AC006210;AMYH02039075;NG_022587 pseudo HGNC:41932 INFERRED 5132550 PTP4A1P7 protein tyrosine phosphatase type IVA, member 1 pseudogene 7 1 1 1 149695459 149695971 - 176585407 176585919 - 176616271 176616783 - 100421681 ABBA01027861;AL031734;AMYH02002199;NG_027020 pseudo HGNC:41934 INFERRED 5132575 PTP4A1P4 protein tyrosine phosphatase type IVA, member 1 pseudogene 4 5 5 5 q14.3 81268903 81280214 + 85382758 85385106 + 86086940 86089288 + 100129564 ABBA01062105;AC008506;AMYH02011737;NG_029015 pseudo HGNC:41931 INFERRED 1605721 PTP4A2P2 protein tyrosine phosphatase type IVA, member 2 pseudogene 2 11 11 11 q24-q25 131166719 131168510 - 133993322 133995113 - 134123427 134125218 - 8661118;8931711 5769 ABBA01031111;AMYH02025833;AP000911;NG_001182;NG_028348 1682315;1774621 RH40091;WI-11521 PTP4AP2 APPROVED pseudo HGNC:9638 INFERRED 5144404 PTMAP8 prothymosin, alpha pseudogene 8 3 3 3 q13.31 115153521 115153862 + 116745545 116745886 + 117026698 117027039 + 23251661 728873 ABBA01061608;AC068303;AMYH02007482;NG_031895 pseudo HGNC:42437 INFERRED 5132576 PTP4A1P6 protein tyrosine phosphatase type IVA, member 1 pseudogene 6 11 11 11 q14.2 83453751 83455785 + 86142449 86145919 + 86431407 86434877 + 100129472 ABBA01017322;AP001148;NG_028980 pseudo HGNC:41933 INFERRED 734337 PTMS parathymosin INVOLVED IN DNA replication (inferred); immune system process (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; ampicillin; atrazine 12 12 12 p13 8492838 8497415 + 6875255 6880118 + 6766375 6770952 + 1580863;6480464 10601862;10854063;12477932;12852257;15716277;16150697;16169070;1862085;18816836;19204726;19773279;20195357;20237496;20360068;21139048;21832049;21890473;21906983;22863883;22939629;23000965;2445824;24816145;2537638;2776490;8954154;9382927 5763 F5GXR3;F5H7R9;P20962 ABBA01017655;AC125494;AMYH02025954;AMYH02025955;BC007616;BC017025;BC128229;BE791815;BM451233;BM550529;CH471116;M24398;NM_002824;Y13586 AAA61185;AAH17025;AAI28230;ABM85051;CAA73913;EAW88742;NP_002815;P20962 Hs.504613 1676170;1777925;2169156;5492997 RH44859;RH80941;STS-M24398;UniSTS:483605 OTTHUMP00000240393;OTTHUMP00000240395;ParaT protein-coding ENSG00000159335 HGNC:9629 01344 168440 VALIDATED 1318604 PTP4A3 protein tyrosine phosphatase type IVA, member 3 This gene encodes a member of the protein-tyrosine phosphatase family. Protein tyrosine phosphatases are cell signaling molecules that play regulatory roles in a variety of cellular processes. Studies of this class of protein tyrosine phosphatase in mice demonstrates that they are prenylated in vivo, suggesting their association with cell plasma membrane. The encoded protein may enhance cell proliferation, and overexpression of this gene has been implicated in tumor metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 8 8 8 q24.3 138607734 138608044 + 142402093 142442554 + 141391993 141432454 + 1580863;6480464;8554872 10747914;11355880;11598267;12107411;12235145;12477932;12516958;12782572;14654542;14704153;15135076;15161639;15489334;15534108;15788667;16203771;16472776;16505094;16832410;16873432;17018620;17235563;17353931;17440740;17545014;17545077;17717498;17934070;18021371;18078820;18268019;18561324;18636172;18684031;18803057;18813812;19002188;19009246;19040419;19087692;19101992;19115206;19132388;19152186;19187591;19214221;19236507;19322201;19322925;19424625;19440036;19586538;19757198;19846928;19930715;19945467;20045518;20140626;20364335;20516731;20609352;20806969;20860603;21084277;21135111;21159255;21291404;21320469;21466710;21478108;21589872;21725609;21790231;21806020;21914394;22028901;22073279;22131018;22137788;22261620;22331511;22340241;22345654;22413991;22440248;22469786;22595524;22677902;22825514;22855168;22995644;23036709;23092334;23178297;23362275;23364316;23418787;23462371;23572150;23691193;23729584;23867504;23929599;23989302;24030100;24204707;24403062;24686170;24696260;24737397;9514946;9633825 11156 E5RFQ4;E5RGR3;O75365 ABBA01013689;ABBA01013690;AC100803;AC241442;AF041434;AI742376;AJ276554;AK311257;AMYH02018905;BC003105;BE778111;BQ637038;BT007303;CH471060;NM_007079;NM_032611;U87168;XM_005250762;XM_005250763;XM_005250764;XM_005250766;XM_005250767;XM_006716499;XM_006716500;XM_006725100;XM_006725101;XM_006725102;XM_006725103 AAB47560;AAC29314;AAH03105;AAP35967;CAC81757;EAW92231;NP_009010;NP_116000;O75365;XP_005250819;XP_005250820;XP_005250821;XP_005250823;XP_005250824;XP_006716562;XP_006716563;XP_006725163;XP_006725164;XP_006725165;XP_006725166 Hs.43666;Hs.744870 1672862 RH41881 PRL-3;PRL-R;PRL3 OTTHUMP00000226811;OTTHUMP00000226812;potentially prenylated protein tyrosine phosphatase;protein tyrosine phosphatase type IVA 3;protein-tyrosine phosphatase 4a3;protein-tyrosine phosphatase of regenerating liver 3 APPROVED protein-coding ENSG00000184489 HGNC:9636 05922 606449 REVIEWED 1317037 PTPDC1 protein tyrosine phosphatase domain containing 1 The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 9 9 9 q22.32 67234631 67313691 + 96793076 96872138 + 94030794 94109856 + 737633;1580863;6480464 12477932 14702039;16344560;20881960;24121790 138639 A2A3K4;A8K0X7 ABBA01017680;AK094631;AK094773;AK124912;AK289692;AK310403;AL360020;AMYH02021250;AMYH02021251;AW052114;AY171233;BC031279;BC035699;BC051654;BC067120;BI460503;CH471089;DA218576;DA312531;NM_001253829;NM_001253830;NM_152422;NM_177995;XM_005251711;XM_005251712;XM_006716957;XM_006716958 A2A3K4;AAH67120;AAO13168;BAC04391;BAC04421;BAF82381;EAW62875;EAW62876;NP_001240758;NP_001240759;NP_689635;NP_818931;XP_005251768;XP_005251769;XP_006717020;XP_006717021 Hs.437943 1694876;1788988;1853204;2116113;2170430;2182897;2219572;5023305 G44319;G65573;PTPDC1__5612;RH18531;RH45930;RH66513;U57809;WI-22428 FLJ42922;PTP9Q22 OTTHUMP00000021688;OTTHUMP00000123402;protein tyrosine phosphatase PTP9Q22;protein tyrosine phosphatase domain-containing protein 1 APPROVED protein-coding ENSG00000158079 HGNC:30184 06689 REVIEWED 1343988 PTPLA protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008] 10 10 10 p14-p13 17565146 17593075 - 17631031 17659383 - 17589032 17617384 - 6480464 10644438;11054553;12477932;15489334;16385451;17207965;19241460;19913121;20628086;20724468;22067203;23933735;7829101 9200 A6NP58;B0YJ81;J3KS69;J3KT94 ABBA01034553;AC069542;AF114494;AF266848;AMYH02022253;AW022173;AY455942;BC010353;BC027709;CH471072;EF445016;GN344093;NM_014241;XM_005252641;XM_006717536;XR_428651 AAF21976;AAG10713;AAH10353;AAR22554;ACA06058;ACA06059;ACA06060;ACA06061;ADQ31829;B0YJ81;CAY55982;EAW86210;EAW86211;NP_055056;XP_005252698;XP_006717599 Hs.114062 1650394;2177241;5022578 D1S1423;SHGC-56539;STS-N24848 CAP;HACD1 3-hydroxyacyl-CoA dehydratase 1;OTTHUMP00000019240;cementum attachment protein;protein-tyrosine phosphatase-like member A;very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1;very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1 APPROVED protein-coding ENSG00000165996 HGNC:9639 10175 610467 REVIEWED 1347938 PTP4A2P1 protein tyrosine phosphatase type IVA, member 2 pseudogene 1 17 17 17 q21 37341085 37342166 + 40685151 40686232 + 42533133 42534214 + 15213447;8529999;8661118;8931711 5767 ABBA01006422;AC067852;AMYH02033430;NG_004085;NG_011552;U34879 PTP4AP1;h-PRL-1 APPROVED pseudo HGNC:9637 INFERRED 1605074 PTPLAD1 protein tyrosine phosphatase-like A domain containing 1 ENCODES a protein that exhibits GTPase activator activity (inferred); lyase activity (inferred); INVOLVED IN activation of JUN kinase activity (inferred); fatty acid biosynthetic process (inferred); I-kappaB kinase/NF-kappaB signaling (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN focal adhesion; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; bis(2-chloroethyl) sulfide 15 15 15 q22.2 3030 11310 - 65822804 65870693 + 65530489 65578355 + 6480464;8554872 10747961;11042152;12477932;14702039;15302935;15345747;16196087;16303743;16516406;17110338;17353931;18160438;19656872;20139978;20562859;21139048;21145461;21182205;21890473;21906983;21987572;22190034;22560525;22939629;23125841;23222517;23246001;23438482;23464991;24163370;24250222;24457600;24639526;24816145;25036637;8125298 51495 H3BMZ1;H3BPZ1;H3BRL8;H3BS72;Q9P035 ABBA01038847;ABBA01038848;AC011846;AC027220;AF161470;AJ271091;AK027421;AK074857;AK074898;AK225120;AK299234;AL137412;AMYH02030630;AMYH02030631;BC000194;BC009056;BC011443;BC019873;BC035508;BC047685;BC058912;CH471082;DQ251107;H21635;NM_016395 AAF29085;AAH19873;AAH35508;AAH47685;AAH58912;ABB83547;BAB55101;BAC11249;BAC11277;BAG61266;CAB69070;EAW77735;EAW77736;NP_057479;Q9P035 Hs.512973 1655350;2116489;2140727;2153851;5019160 A004R20;D15S1249;RH102970;RH46948;WI-15305 B-IND1;BIND1;FLJ90376;HACD3;HSPC121 3-hydroxyacyl-CoA dehydratase 3;butyrate-induced protein 1;butyrate-induced transcript 1;hB-ind1;protein tyrosine phosphatase-like protein PTPLAD1;protein-tyrosine phosphatase-like A domain-containing protein 1;very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3;very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 3 protein-coding ENSG00000074696 HGNC:24175 11037 615940 VALIDATED 1349312 PTPLC protein tyrosine phosphatase-like (proline instead of catalytic arginine), member c 9198 HGNC:9641 1605594 PTPMT1 protein tyrosine phosphatase, mitochondrial 1 ENCODES a protein that exhibits phosphatidylglycerophosphatase activity (ortholog); INVOLVED IN cardiolipin biosynthetic process (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 11 11 11 p11.2 47729717 47737744 + 47586888 47595013 + 47565430 47573461 + 6480464;8554872 12477932;15247229;15489334;16341674;16344560;17207965;21145461;21900206;21963094;22268729;23326511;8889548 114971 E9PQM0;Q8WUK0 ABBA01060700;ABBA01060701;ABBA01060702;AC090559;AC104942;AF277187;AK294640;AMYH02024734;AY333987;BC014048;BC018974;BC020242;BC073798;BC107573;BM702054;BM750411;BQ050653;CH471064;DA476984;DR004030;NM_001143984;NM_175732 AAH14048;AAH20242;AAK07545;AAP94732;ACE86451;ACE87127;ADQ32394;BAG57819;EAW67905;NP_001137456;NP_783859;Q8WUK0 Hs.656205;Hs.742231 1712915;2128244;2217508 KBTBD4_3651;RH121093;RH47256 DUSP23;FLJ46081;MOSP;PLIP;PNAS-129 NB4 apoptosis/differentiation related protein;OTTHUMP00000234343;OTTHUMP00000234345;OTTHUMP00000234346;OTTHUMP00000234347;PTEN-like phosphatase;phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1;phosphoinositide lipid phosphatase;protein-tyrosine phosphatase mitochondrial 1 protein-coding HGNC:26965 609538 VALIDATED 732757 PTK2 protein tyrosine kinase 2 This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene, but the full-length natures of only three of them have been determined. [provided by RefSeq, Dec 2010] 8 8 8 q24.3 137836859 138179410 - 141668481 142011412 - 140658382 141001313 - 729831;1581290;1580863;2292571;2292561;2292562;2292572;2292554;2292569;2292570;2292555;2292558;2292559;2298729;2300402;2292604;2292632;2292557;2292563;2292568;2292579;2292556;2292560;2292584;2292577;6480464;6907045;5130174;8554872 10526262;11204274;12242727;12517589;12732587;14675348;15108811;15378782;15455382;15536334;15564794;15930288;16136050;16244766;16457699;16547501;16638855;17203219;17514628;17543958;17620366;17658244;17913382;18056629;18429825 10048580;10082579;10085298;10330411;10384144;10400703;10430888;10446223;10455189;10512882;10545505;10587647;10655584;10753828;10769033;10801330;10806474;10808124;10822899;10873094;10925297;10931187;10938112;10980697;11113628;11160818;11278329;11278335;11278462;11278857;11314030;11331870;11337490;11359909;11369769;11382919;11389892;11463817;11468295;11476890;11496289;11513739;11514617;11577104;11602246;11668182;11779709;11799111;11807823;11809746;11839772;11857088;11886520;11891225;11916084;11919182;11927607;11950595;11980671;11986332;11988077;12005431;12011046;12023386;12049193;12054581;12058076;12110680;12119061;12135674;12149262;12167618;12169389;12174366;12215217;12216109;12226752;12297287;12370821;12376862;12387730;12435390;12473661;12477932;12529399;12531888;12543870;12551902;12558988;12611892;12615911;12629171;12651906;12659633;12700132;12748169;12771190;12794117;12803239;12815062;12844492;12847914;12881299;12884911;12904305;12907754;12939401;12954625;14500712;14521607;14553943;14578863;14584897;14617636;14637150;14670178;14688263;14699482;14702039;15077193;15102689;15102844;15121855;15155793;15157737;15161045;15166238;15175910;15210734;15247219;15331608;15369772;15494732;15494733;15528360;15532706;15557280;15611137;15640164;15652490;15657578;15657875;15673687;15681841;15717329;15725728;15736429;15743500;15778501;15850774;15855171;15866427;15895076;15951569;15975092;16007195;16039608;16054026;16105876;16141199;16153436;16159962;16189514;16202977;16226872;16247468;16251422;16260653;16270396;16291744;16298995;16308318;16344560;16354697;16371650;16406804;16412380;16452200;16523241;16581250;16620772;16705171;16760434;16803572;16842883;16899713;16912186;16919435;16920698;16927379;16998832;17028776;17043358;17081517;17081983;17088251;17096371;17113264;17192257;17213807;17215324;17236584;17240116;17274640;17317726;17327229;17332925;17397984;17443665;17469136;17515959;17537730;17620332;17675501;17828307;17868650;17879163;17888894;17893324;17904248;17967873;17982280;17999388;18029348;18031698;18032789;18061419;18073135;18078823;18078954;18086875;18182379;18184462;18198129;18206965;18210145;18215142;18223254;18247360;18256281;18263593;18292575;18292781;18322799;18332144;18341635;18349846;18353772;18414015;18449907;18452580;18493017;18497331;18519756;18549812;18562041;18593949;18632638;18669633;18680726;18695939;18713744;18832579;18846341;18922979;18948272;18987997;19006177;19020730;19021002;19029090;19032871;19042019;19055942;19082453;19089993;19098120;19118217;19141860;19147981;19150878;19199036;19242756;19268501;19297531;19297850;19301259;19303400;19318351;19322201;19339212;19364917;19403028;19423701;19435801;19454363;19471549;19473962;19475568;19479902;19481075;19492042;19500106;19525103;19545541;19561089;19563023;19574423;19615356;19633364;19635908;19644410;19656390;19664602;19671193;19695571;19695682;19736351;19737461;19787193;19798549;19823058;19826415;19857493;19889638;19889958;19917775;19931244;20018849;20041213;20056178;20089932;20109444;20124721;20127254;20140743;20145126;20145416;20150423;20151150;20160475;20177740;20191563;20198306;20201928;20233709;20378826;20389021;20400979;20405349;20407018;20431421;20434207;20441998;20515733;20561409;20576130;20594998;20597513;20621036;20725143;20802513;20811717;20869705;20869748;20880986;20924071;20936779;20953136;20959405;20966971;21029396;21042764;21045155;21058027;21068464;21071137;21084629;21127007;21139048;21209368;21247411;21269758;21276823;21281808;21338601;21350188;21383007;21401419;21403855;21411625;21418517;21454615;21454698;21483099;21502966;21590355;21590492;21637765;21643014;21646305;21653826;21656515;21667138;21669400;21693107;21703394;21707507;21716326;21720547;21726809;21765932;21800286;21832049;21852242;21855630;21868344;21875461;21876001;21898412;21900206;21900245;21914806;21921419;21937583;21948112;21967109;21969470;21969587;21988832;21994943;22005766;22009484;22028271;22040413;22075845;22094095;22095445;22149168;22188814;22203669;22203672;22270917;22323655;22336124;22341464;22362758;22378044;22393238;22402131;22402981;22454420;22473839;22481092;22488171;22492165;22493428;22544741;22563076;22733437;22734001;22760257;22766276;22778269;22790665;22810307;22813850;22817694;22854047;22871469;22894899;22898813;22934705;22934707;22934708;22937161;22939624;23022044;23047954;23064287;23077174;23079702;23143646;23179791;23186335;23208492;23209645;23211542;23219295;23232649;23273897;23275034;23328701;23328812;23387972;23393139;23499373;23512980;23525457;23536552;23588386;23600470;23602568;23637231;23639457;23689132;23762317;23812425;23845472;23906871;23920124;24005669;24015220;24021281;24040310;24058594;24062525;24091658;24092571;24114522;24194567;24217252;24222685;24223781;24227778;24250222;24284889;24331979;24344130;24360952;24365239;24370784;24480479;24639526;24655477;24657306;24696469;24916506;25049397;7479864;7509446;7515480;7529872;7529876;7537275;7589239;7597091;7622520;7692878;7744883;7766995;7997267;8054685;8247543;8422239;8493579;8609175;8649368;8649427;8654393;8660853;8668148;8770310;8810278;8816475;8879209;8922390;8941336;8986614;9054445;9079653;9148935;9169439;9230116;9257837;9325343;9342235;9360968;9360983;9418872;9422762;9442086;9461600;9497381;9507031;9553131;9636140;9642276;9658172;9708406;9750131;9756887;9786953;9822703;9837978;9858471;9867854 5747 B4DWJ1;E5RFW9;E5RG54;E5RG66;E5RG80;E5RG86;E5RGA6;E5RGP1;E5RH01;E5RH08;E5RH48;E5RHD8;E5RHK7;E5RI03;E5RI29;E5RI72;E5RII9;E5RIK4;E5RIR5;E5RJI4;E5RJN1;E5RJP0;E5RJQ2;E7ESA6;E9PEI4;H0YAS0;H0YB16;H0YB33;H0YB99;H0YBP1;H0YBZ1;J3QT16;Q05397;Q59GM6;Q658W2;Q8IYN9;Q8N9D7 AB209071;AB209083;ABBA01013677;ABBA01013678;ABBA01013679;AC067931;AC100860;AC105009;AC105235;AK055139;AK094999;AK124810;AK294873;AK301557;AK304356;AL832961;AMYH02018888;AMYH02018889;AMYH02018890;AMYH02018891;AMYH02018892;AMYH02018893;AMYH02018894;AMYH02018895;BC015361;BC028733;BC035404;BC043202;BF434494;CH471060;DA236314;DA994616;DB478006;KF437463;KF458878;KF458882;L13616;NG_029467;NM_001199649;NM_005607;NM_153831;XM_005251003;XM_005251004;XM_005251005;XM_005251006;XM_005251007;XM_005251008;XM_005251009;XM_005251010;XM_005251011;XM_005251012;XM_005251013;XM_005251014;XM_006716606;XM_006716607;XM_006716608;XM_006716609;XM_006716610 AAA58469;AAH28733;AAH35404;ABW03595;AHZ89389;BAC04470;BAD92308;BAD92320;BAG57974;BAG63053;BAG65198;CAH56296;EAW92210;EAW92211;EAW92212;EAW92213;EAW92214;NP_001186578;NP_005598;NP_722560;Q05397;XP_005251060;XP_005251061;XP_005251062;XP_005251063;XP_005251064;XP_005251065;XP_005251066;XP_005251067;XP_005251068;XP_005251069;XP_005251070;XP_005251071;XP_006716669;XP_006716670;XP_006716671;XP_006716672;XP_006716673 Hs.395482 1341610;1648530;1656768;1660325;1694704;1697440;1705322;1713603;1713747;1720181;1720185;1722537;1740465;1779640;2123654;2135453;2146332;2149317;2174161;2174163;5015961;5037552;5105597 A006E44;D15S1477;D5S2264E;D8S1729;D8S2279;G20751;G43542;G60195;RH102221;RH10984;RH120676;RH120759;RH124004;RH124006;RH69012;SHGC-12766;SHGC-132108;SHGC-153616;SHGC-34940;SHGC-79845;STS-T29673;WI-11480;WI-18850 FADK;FADK 1;FAK;FAK1;FRNK;PPP1R71;p125FAK;pp125FAK FAK-related non-kinase polypeptide;OTTHUMP00000226318;OTTHUMP00000226320;OTTHUMP00000226325;OTTHUMP00000226326;OTTHUMP00000226333;OTTHUMP00000226334;OTTHUMP00000226350;OTTHUMP00000226586;PTK2 protein tyrosine kinase 2;focal adhesion kinase 1;focal adhesion kinase isoform FAK-Del33;focal adhesion kinase-related nonkinase;protein phosphatase 1 regulatory subunit 71;protein phosphatase 1, regulatory subunit 71;protein-tyrosine kinase 2 APPROVED protein-coding ENSG00000169398 HGNC:9611 02859 600758 REVIEWED 734245 PTP4A2 protein tyrosine phosphatase type IVA, member 2 The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif. This PTP has been shown to primarily associate with plasmic and endosomal membrane through its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab geranylgeranyltransferase II (beta GGT II), and thus may function as a regulator of GGT II activity. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which suggested its role in tumorigenesis. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 11, 12 and 17. [provided by RefSeq, Aug 2010] 1 1 1 p35 30642021 30673892 - 32372022 32403988 - 31906421 31938387 - 6480464;8554872 10940933;11076863;11447212;11734337;12235145;12477932;12516958;14643450;15489334;15489336;16381901;16710414;16832410;16957164;17353931;17440740;17666324;20226699;20841483;21765462;21890473;21906983;21963094;21987572;21993571;22413991;22505724;22623531;23000965;23362275;23568563;7490091;8529999;8661118;9018080;9514946 8073 E9PJC0;E9PL34;E9PML8;E9PMY3;E9PRR9;Q12974 ABBA01023445;ABBA01023446;ABBA01023447;ABBA01023448;AF208850;AK292703;AK297280;AL136115;AMYH02000695;AMYH02000696;AMYH02000697;AMYH02000698;BC018662;BC070181;BC070182;BI545293;BI552091;BM996809;CH471059;L39000;L48722;L48723;L48937;N21082;NM_001195100;NM_001195101;NM_080391;U14603;U48297;XM_005271229;XM_005271230;XM_005271231;XM_005271232;XM_006710927;XM_006710928 AAA90979;AAB39331;AAB40598;AAB42169;AAB42170;AAB59575;AAF64264;AAH70182;BAF85392;BAG59751;CAL37487;CAL38409;CAL38433;EAX07578;EAX07579;EAX07580;EAX07581;EAX07582;EAX07583;EAX07584;NP_001182029;NP_001182030;NP_536316;Q12974;XP_005271286;XP_005271287;XP_005271288;XP_005271289;XP_006710990;XP_006710991 Hs.470477;Hs.713025 1337515;1647569;1674276;1674365;1680351;1682315;1739503;1774621;2116824;2133173;5112021 A006T38;D17S1705;D1S388;D1S396;G44367;RH40091;RH68852;SHGC-33115;WI-11521;WI-21682;WI-8498 HH13;HH7-2;HU-PP-1;OV-1;PRL-2;PRL2;PTP4A;PTPCAAX2;ptp-IV1a;ptp-IV1b OTTHUMP00000003902;PTP(CAAXII);phosphatase of regenerating liver 2;protein tyrosine phosphatase IVA;protein tyrosine phosphatase IVA2;protein tyrosine phosphatase type IVA 2;protein-tyrosine phosphatase 4a2;protein-tyrosine phosphatase of regenerating liver 2 APPROVED protein-coding ENSG00000184007 HGNC:9635 03348 601584 REVIEWED 1601904 PTPLAD2 protein tyrosine phosphatase-like A domain containing 2 ENCODES a protein that exhibits lyase activity (inferred); INVOLVED IN fatty acid biosynthetic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; arsenite(3-) 9 9 9 p21.3 20944643 20969914 - 21003620 21031635 - 21003621 21031636 - 6480464;8554872 12477932;24144296;24530685 401494 Q5VWC8 ABBA01065179;AL390882;AL662879;AMYH02019280;BC114215;BX538052;BX648779;CH471071;NM_001010915;XM_005251459 AAI14216;CAD97990;EAW58626;NP_001010915;Q5VWC8;XP_005251516 Hs.716678 1652216;1690418;2120570;2145695;2161648;5020948;5093056 A009E47;G32493;G35510;RH16145;RH68030;RH93561;STS-Z40712 DKFZp686F01145;DKFZp686G24132;HACD4 3-hydroxyacyl-CoA dehydratase 4;OTTHUMP00000022748;OTTHUMP00000045083;protein tyrosine phosphatase-like protein PTPLAD2;protein-tyrosine phosphatase-like A domain-containing protein 2;very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4;very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 4 protein-coding HGNC:20920 17392 615941 VALIDATED 1350462 PTPN17 protein tyrosine phosphatase, non-receptor type 17 5785 HGNC:9648 1343639 PTPN1 protein tyrosine phosphatase, non-receptor type 1 The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 20 20 20 q13.1-q13.2 45831156 45905376 + 49126858 49201299 + 50510321 50584762 + 1625124;1625240;1580595;1580863;2289366;2293185;2290530;6480464;6484113;6907045;7240710;8554872 11833006;12850498;15821101;16426581;17347799;7711057 10350489;10480872;10660596;10748206;10889023;10940933;11007774;11106648;11136729;11163213;11316810;11506178;11579209;11694501;11703427;11726652;11742412;11756316;11780052;11788587;11836311;12082107;12176037;12237455;12354677;12365558;12377785;12388170;12414790;12424235;12446583;12468645;12477932;12504077;12547827;12554649;12573287;12634852;12802338;12802339;12857726;12907755;14514610;14722096;14966296;14976221;15031294;15039022;15097232;15189365;15235769;15258570;15489334;15504984;15504985;15588985;15592455;15715684;15737620;15866871;15894168;15919813;15919835;15998263;16005629;16115959;16249458;16289152;16291744;16344560;16407290;16505227;16582879;16644720;16652382;16677372;16713994;17056636;17081112;17081983;17092689;17135270;17159996;17185494;17240976;17255364;17333110;17339316;1739967;17403124;17509747;17560463;17634210;17643420;17974954;18029348;18074158;18077048;18253097;18332219;18387954;18571728;18636124;18660489;18716132;18819921;18840608;18846048;18854601;18925540;18957266;19008309;19167335;19208619;19435911;19491387;19578796;19589142;19782770;19948975;20000419;20030748;20059965;20101100;20118922;20131294;20177231;20236928;20388125;20416077;20467438;20493809;20504764;20578946;20601126;20615878;20627780;20628624;20682687;20864346;20871154;20937240;20952588;21123182;21139048;21188419;21411736;21442314;21487008;21513978;2157211;21632985;2164224;21676396;21707536;21795709;21849469;21869483;21906983;21913686;21959757;21972092;21988832;22031842;22045810;22169477;22282656;22304920;22404968;22450318;22474028;22509299;22609202;22655028;22698963;22701734;22939629;23129613;23176256;23239271;23358729;23428800;23439647;23499906;23590304;23640882;23661004;23729600;23761422;23769735;23814025;23814047;23994026;24003221;24104540;24114941;24120971;24139759;24285539;24519936;24531327;24590766;24654937;24816145;2546149;7510677;7514173;7539106;7540771;7544790;7545675;7693694;7935344;8128219;8389479;8491187;8621392;8647855;8826975;8940099;8940134;8999839;9261115;9355745;9391040;9407132;9418872;9499405;9553104;9566916;9600099;9922143 5770 A8K3M3;B4DSN5;P18031 ABBA01052781;AI474453;AK290638;AK299830;AK316563;AL034429;AL133230;AMYH02037237;AU117677;AY029236;BC015660;BC018164;BT006752;CH471077;CS569123;DB332370;DC300354;HD122567;HI639118;JA420824;KF456940;M31724;M33684;M33689;NG_012119;NM_001278618;NM_002827 AAA60157;AAA60158;AAA60223;AAH15660;AAH18164;AAK31734;AAP35398;BAF83327;BAG38152;BAG61697;CAN59693;CBW46546;CBX55888;CCD32728;EAW75624;EAW75625;EAW75626;NP_001265547;NP_002818;P18031 Hs.417549 1693352;1774734;1791610;1791612;1798044;2119262;2179729 AL034534;PMC117295P1;PMC117295P2;PTPN1_1850;RH11093;RH45266;STS-M31724 PTP1B OTTHUMP00000031266;protein tyrosine phosphatase 1B;protein tyrosine phosphatase, placental;protein-tyrosine phosphatase 1B;tyrosine-protein phosphatase non-receptor type 1 APPROVED protein-coding ENSG00000196396 HGNC:9642 01477 125853;176885 REVIEWED 1317339 PTPN14 protein tyrosine phosphatase, non-receptor type 14 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010] 1 1 1 q32.2 187744922 187948451 - 214521640 214725024 - 214348267 214551681 - 1580863;6480464;7240710;8699517;8554872 10212280;10400706;10600535;10934049;12477932;12808048;14702039;15324660;15717329;16344560;16534812;17081983;17314511;17979178;18677119;20379614;20826270;21150319;21963094;22118674;22233626;22525271;22689061;22710723;22948661;23000965;23402259;23613971;24255178;24386095;24550385;7545953;7733990 5784 A8K6H6;E2J9M0;Q15678 ABBA01048143;ABBA01048144;ABBA01048145;ABBA01048146;ABBA01048147;ABBA01048148;AF086517;AK056963;AK090596;AK291641;AK298120;AL445305;AL592216;AL603838;AL929236;AMYH02002663;AMYH02002664;AMYH02002665;AW192897;BC017300;BC101754;BC104803;CH471100;DA738908;HQ116786;NG_028036;NM_005401;X82676;XR_247032;Z23491 AAH17300;AAI01755;AAI04804;ADN23590;BAF84330;BAG60402;CAA57993;EAW93351;NP_005392;Q15678 Hs.193557 1335730;1645177;1647480;1651505;1692902;1715969;1766203;1792860;1851470;1855426;2177363;2217870;5037552;5093544;5109281 A009Q27;AL034163;D1S1425;D1S1778E;D1S2195;D1S419;D8S2279;G32781;PMC166143P2;PTPN14_2926;RH122727;SHGC-149569;SHGC-76337;SHGC-76338;STS-X82676 MGC126803;PEZ;PTP36 OTTHUMP00000035094;cytoskeletal-associated protein tyrosine phosphatase;protein-tyrosine phosphatase pez;tyrosine-protein phosphatase non-receptor type 14 APPROVED protein-coding ENSG00000152104 HGNC:9647 04402 603155;613611 REVIEWED 1346224 PTPN12 protein tyrosine phosphatase, non-receptor type 12 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 7 7 7 q11.23 71867421 71970039 + 77166773 77269388 + 77537456 77640071 + 1580863;6480464;7240710;8699517;8554872 10085298;10092676;10400685;10400703;10625692;10940933;11158295;11163214;11314030;11337490;11342545;11432829;11577104;11711533;11731619;11950600;11971877;12052829;12231407;12477932;12614164;12665801;12674328;12690205;12714323;12853948;14707117;1472029;15122254;15146197;15231748;15489334;15588985;15831474;16964243;17081983;17130234;17329398;17608818;18029348;18559503;19167335;1932742;19380743;19919952;20029029;20519451;21139048;21376233;21483099;21706016;21832049;21876001;22429674;22458809;22644489;22863883;23435421;23733313;23957009;24284071;24285539;7509295;7520867;7929214;8349645;8454633;8626541;8887669;9135065;9285683;9422760;9497381;9748319;9804817;9847074;9857189;9920935 5782 B4E105;C9J1X8;C9JJC1;C9JYA4;F8WB51;H0YB59;H0YC15;H3BM04;Q05209 AB209524;ABBA01058010;ABBA01058011;AC006451;AK289573;AK296764;AK303602;AK314236;AMYH02016100;AMYH02016101;AMYH02016102;BC026004;BC050008;CH236949;CH471091;CN395133;D13380;M93425;NG_008394;NM_001131008;NM_001131009;NM_002835;S69182;S69183;S69184;XM_005250518;XM_006716073;XM_006716074 AAA36529;AAB30045;AAB30046;AAB30047;AAH50008;AAQ96881;BAA02648;BAD92761;BAF82262;BAG59344;BAG64617;EAL24198;EAW77036;EAW77037;NP_001124480;NP_001124481;NP_002826;Q05209;XP_005250575;XP_006716136;XP_006716137 Hs.61812 1657982;1662550;1740651;1751145;1771588;1798042;2115257;2123160;2132468;2139222;2163925;5015863 D20S1000;G06466;GDB:1317318;GDB:1317990;GDB:1318038;GDB:1318515;GDB:1318521;GDB:305494;PTPN12;PTPN12_1837;RH77974;SHGC-105103 PTP-PEST;PTPG1 OTTHUMP00000161275;OTTHUMP00000208615;OTTHUMP00000208616;protein-tyrosine phosphatase G1;tyrosine-protein phosphatase non-receptor type 12 APPROVED protein-coding ENSG00000127947 HGNC:9645 02513 114500;600079 REVIEWED 1349944 PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008] 4 4 4 q21.3 84804545 85025407 + 87515468 87736332 + 86594315 86815179 + 1580863;6480464;6484113;8554872 10400701;10526152;10544233;10660140;10704206;10826496;10918185;10951583;11106428;11329013;11356191;11696979;11884147;11959286;12095257;12354757;12436199;12477932;12724420;12839623;12870871;12907755;14516276;14596806;14702039;15371306;15489334;15611135;15663004;15782144;15894934;16306044;16344560;16489062;16498403;16572203;16888780;17240990;17638892;17657516;17982484;18038312;18195016;18684861;19004008;19056867;19240061;19672627;19734941;19850743;19892796;20039457;20379614;20453000;20501847;20620960;20839809;21139048;21235435;21741956;22262849;22274591;22279592;22364882;23209399;23519466;23559010;23604317;23906871;23950995;24159190;24191246;24255178;24316673;24338422;7536343;7929060;8071359;8287977;8824809;9079683;9261095;9305890;9835052;9882613;9920925 5783 D6R9M4;D6R9X4;Q12923 AB208904;ABBA01063505;ABBA01063506;ABBA01063507;ABBA01063508;ABBA01063509;ABBA01063510;ABBA01063511;ABBA01063512;ABBA01063513;AC097657;AC105413;AC110076;AF101267;AF233323;AK056151;AMYH02009658;AMYH02009659;AMYH02009660;BC039610;BC139915;BC140777;BC144520;BG202767;BX647553;CH471057;D21209;D21210;D21211;DA625835;JA362582;L34583;NG_029704;NM_006264;NM_080683;NM_080684;NM_080685;U12128;U12129;U12131;U12132;X79676;X80289;XM_005263167 AAB60339;AAC41755;AAF63474;AAH39610;AAI40778;AAY40972;BAA04750;BAA04751;BAA04752;BAD92141;CAA56124;CAA56563;CAH10380;CCA94573;EAX05965;EAX05966;EAX05967;EAX05968;NP_006255;NP_542414;NP_542415;NP_542416;Q12923;XP_005263224 Hs.436142 1338920;1649260;1667197;1670960;1681612;1796590;2121068;2126413;2129350;2142356;2146815;5020948;5037552;7183823 D4S1542;D4S2622;D4S2844;D4S3193;D4S3439;D4S824;D8S2279;G35510;PTPN13_1371;SHGC-50681;SHGC-59253;SHGC-67290;SHGC-67903 DKFZp686J1497;FAP-1;PNP1;PTP-BAS;PTP-BL;PTP-E1;PTP1E;PTPL1;PTPLE;hPTP1E;hPTPE1 APO-1/CD95 (Fas)-associated phosphatase;Fas-associated phosphatase-1;OTTHUMP00000219449;OTTHUMP00000219450;OTTHUMP00000219451;OTTHUMP00000219452;fas-associated protein-tyrosine phosphatase 1;protein tyrosine phosphatase 1E;protein tyrosine phosphatase, nonreceptor type 13;protein-tyrosine phosphatase 1, Fas-associated;protein-tyrosine phosphatase 1E;protein-tyrosine phosphatase PTPL1;tyrosine-protein phosphatase non-receptor type 13 APPROVED protein-coding ENSG00000163629 HGNC:9646 02602 600267 REVIEWED 1314901 PTPLB protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b ENCODES a protein that exhibits lyase activity (inferred); INVOLVED IN fatty acid biosynthetic process (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol; 2-methylcholine; benzo[a]pyrene diol epoxide I 3 3 3 q21.1 121620589 121710855 - 123213363 123303924 - 123494516 123585077 - 6480464 12477932;15024066;16303743;19322201;20379614;20677014;21139048;24816145;8619474;9110174 201562 C9JWG1;H7C4K8;Q6Y1H2 ABBA01016453;ABBA01016454;ABBA01016455;AC020631;AC023165;AC025571;AC084039;AF052159;AK074605;AK289983;AL832532;AMYH02007554;AMYH02007555;AY191814;BC016990;BC049369;BC060839;NM_198402 AAH49369;AAH60839;AAP20101;BAF82672;NP_940684;Q6Y1H2 Hs.705480 1646516;1653884;1662066;1681594;1697652;1700576;1713181;1716841;1725559;1728011;1762103;2129204;2151127;2179715;5022200;5022651;5037552;5109281 A002V45;D11S2921;D1S1425;D3S2883E;D8S2279;G31456;G61988;G63276;L18426;RH102341;RH103910;RH120377;RH121714;RH27019;RH35888;SHGC-146002;SHGC-34737;SHGC-37000 HACD2 3-hydroxyacyl-CoA dehydratase 2;OTTHUMP00000215716;protein-tyrosine phosphatase-like member B;very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2;very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 2 protein-coding HGNC:9640 17930 615939 PROVISIONAL 1351239 PTPN20CP protein tyrosine phosphatase, non-receptor type 20C, pseudogene 10 10 q11.22 49299273 49348465 - 48091230 48140422 - 653045 AC013284;AL603966;AMYH02022968;AMYH02022969;NG_005691 PTPN20C;bA164N7.3 APPROVED pseudo HGNC:23424 INFERRED 733575 PTPN2 protein tyrosine phosphatase, non-receptor type 2 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011] 18 18 18 p11.3-p11.2 12668269 12766833 - 12785477 12884337 - 12785478 12884338 - 1580863;2290530;6480464;8554872 16426581 10488121;10940933;11907034;11909529;12138178;12171910;12359225;12459463;12477932;12612081;12847239;12907755;14600148;14966296;15030318;15192089;15489334;15509512;15539083;15588985;15592458;15632081;15696169;15778465;16293614;16344560;16595549;17207965;17210636;1731319;17554260;17554261;17554300;18438405;1849097;18519826;18587394;18593762;18819921;18840653;18936107;18948751;18978792;19073967;19171783;19174780;19240061;19264985;19336676;19422935;19430480;19565500;19615732;19755676;19760754;19818778;19861958;19898481;19922411;19951419;20059965;20088380;20190752;20203524;20222910;20379614;20403149;20473312;20689057;20886065;20940300;20962850;21072187;21102463;21115548;21179116;21220691;21246196;21300955;21383967;21551237;2164224;21791476;21829393;21876762;21906983;21984578;21987459;22021207;22105363;22233524;22294642;22377701;22404968;22426692;22446963;22457781;22671594;22671596;22939629;22960018;22960999;23124138;23128233;23166300;23328081;23454379;23518806;23579275;23824909;23840476;24022492;24040033;24127071;24250222;24390342;24608439;24816145;2546150;7593185;8125298;8325634;9261175;9488479 5771 A8K3N4;K7EIE9;K7EIY0;K7ELS9;K7ENP9;K7EQG9;K7ER87;K7ERU1;P17706;Q59F91 AB209569;ABBA01074028;ABBA01074029;ABBA01074030;ABBA01074031;AK225706;AK290649;AK292570;AMYH02034340;AP001077;AP002449;AP005482;AW592324;BC008244;BC016727;BG699440;BQ010946;CH471113;DB350067;EF445017;M25393;M80737;M81478;NG_029116;NM_001207013;NM_002828;NM_080422;NM_080423;X93568;XM_005258124;XM_005258125;XM_005258126;XM_005258127 AAA65997;AAH08244;AAH16727;ACA06062;ACA06063;ACA06064;ADQ31949;ADZ15738;BAD92806;BAF83338;BAF85259;EAX01532;EAX01533;EAX01534;EAX01535;EAX01536;EAX01537;EAX01538;EAX01539;NP_001193942;NP_002819;NP_536347;NP_536348;P17706;XP_005258181;XP_005258182;XP_005258183;XP_005258184 Hs.654527;Hs.663373 1664243;1664407;1676356;1685518;1742389;1742957;2144313;5021872;5022383;5024761;5109281 D1S1425;ECD04345;GDB:196599;GDB:217060;RH12560;RH36905;RH65175;SGC31554;STS-M78585;STS-N53696;sY3084 PTN2;PTPT;TC-PTP;TCELLPTP;TCPTP OTTHUMP00000162485;OTTHUMP00000162486;OTTHUMP00000162487;T-cell protein tyrosine phosphatase;T-cell protein-tyrosine phosphatase;tyrosine-protein phosphatase non-receptor type 2 APPROVED protein-coding ENSG00000175354 HGNC:9650 06768 176887 REVIEWED 1344444 PTPN20A protein tyrosine phosphatase, non-receptor type 20A The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes and several are mutated in human diseases. Chromosome 10q contains a segmental duplication resulting in multiple copies of the protein tyrosine phosphatase, non-receptor type 20 gene. The two nearly identical copies are designated as PTPN20A and PTPN20B. A third copy is only partially duplicated and contains a pseudogene, designated as PTPN20C. This gene encodes the more centromeric copy, PTPN20A. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 q11.22 46550123 46641003 - 6480464 12477932;15790311;24250222 653129 D6RC68;D6RF36;G8JLF9;Q5T1G4 ABBA01152454;AL050040;AL450334;AL672108;AMYH02022968;AY704141;AY704142;AY704143;AY704144;AY704145;AY704146;AY704147;AY704148;AY704149;AY704150;AY704151;AY704152;AY704153;AY704154;AY704155;AY704156;AY704157;AY704158;AY753191;BC036539;BC093750;BC113473;BC143394;BC171725;BX648913;CR933668;NM_001042387;NM_001042389;NM_001042390;NM_001042391;NM_001042392;NM_001042393;NM_001042394;NM_001042395;NM_001042396;NM_001042397 AAH93750;AAI13474;AAI43395;AAI71725;AAW28780;AAW28781;AAW28782;AAW28783;AAW28784;AAW28785;AAW28786;AAW28787;AAW28788;AAW28789;AAW28790;AAW28791;AAW28792;AAW28793;AAW28794;AAW28795;AAW28796;AAW28797;AAW88572;CAB43248;CAI12199;CAI12200;CAI12201;CAI15684;CAI15685;CAI15686;CAI45965;NP_001035846;NP_001035848;NP_001035849;NP_001035850;NP_001035851;NP_001035852;NP_001035853;NP_001035854;NP_001035855;NP_001035856;Q4JDL3 Hs.440733;Hs.499552 CT126;MGC142033;PTPN20B;bA142I17.1;hPTPN20 OTTHUMP00000019514;OTTHUMP00000019515;OTTHUMP00000019516;OTTHUMP00000217122;OTTHUMP00000217123;OTTHUMP00000217124;OTTHUMP00000217125;OTTHUMP00000217126;OTTHUMP00000217127;OTTHUMP00000217128;OTTHUMP00000217171;OTTHUMP00000217172;OTTHUMP00000217173;OTTHUMP00000217174;OTTHUMP00000217177;OTTHUMP00000217220;OTTHUMP00000217221;OTTHUMP00000217223;cancer/testis antigen 126;tyrosine-protein phosphatase non-receptor type 20 APPROVED protein-coding ENSG00000204179 HGNC:23422 610630 REVIEWED 1348801 PTPN23 protein tyrosine phosphatase, non-receptor type 23 ENCODES a protein that exhibits protein kinase binding; protein tyrosine phosphatase activity; INVOLVED IN cilium morphogenesis; negative regulation of epithelial cell migration; peptidyl-tyrosine dephosphorylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN ciliary basal body; cytoplasm; early endosome; INTERACTS WITH atrazine; cobalt dichloride; 17alpha-ethynylestradiol (ortholog) 3 3 3 p21.3 47361133 47393570 + 47422383 47454931 + 47380893 47413441 + 1580863;6480464;8554872 10819331;11095967;12168954;12477932;14702039;15489334;16169070;16344560;16408268;16720300;17174262;17959146;18762272;18835089;19001729;19056867;19340315;19403673;20936779;21139048;21179510;21724833;21890473;21906983;21963094;22053931;22505724;22510412;22623428;22825871;22863883;22939629;23000965;23383273;23443559;23477725;23843459;24250222;24639526;24816145 25930 B4DST5;C9JD91;Q9H3S7;R4GMM7 AB025194;AB040904;ABBA01024694;ABBA01024695;AC099778;AF169350;AF290614;AK055157;AK289502;AK295877;AK295888;AK299906;AL110210;AMYH02006689;AMYH02006690;BC004881;BC020380;BC027711;BC089042;BT009758;CH471055;DA093189;NM_015466;XM_005265031;XM_005265033 AAD50276;AAH04881;AAH27711;AAH89042;AAK28025;AAP88760;BAA95995;BAB19280;BAF82191;BAG58674;BAG58683;BAG61747;CAB53676;EAW64822;EAW64823;EAW64824;NP_056281;Q9H3S7;XP_005265088;XP_005265090 Hs.25524 1664405;1684066;1796592;1853236;2153571 G16531;PTPN23_1258;RH47493;RH91891;SHGC-76917 DKFZp564F0923;HD-PTP;HDPTP;KIAA1471;PTP-TD14 His-domain protein tyrosine phosphatase;OTTHUMP00000164799;OTTHUMP00000210335;his domain-containing protein tyrosine phosphatase;protein tyrosine phosphatase TD14;tyrosine-protein phosphatase non-receptor type 23 protein-coding ENSG00000076201 HGNC:14406 05959 606584 VALIDATED 1352343 PTPN2P2 protein tyrosine phosphatase, non-receptor type 2 pseudogene 2 13 13 13 q12.3 12197138 12198277 + 31127808 31128947 + 30553671 30554810 + 8325634 5773;646758 ABBA01035694;AL353648;AMYH02027799;NG_011398;XM_301455 1676356 RH12560 APPROVED pseudo HGNC:9654 INFERRED 1348879 PTPN2P1 protein tyrosine phosphatase, non-receptor type 2 pseudogene 1 1 1 1 q25.2 151824568 151826060 - 178715479 178716965 - 178746344 178747830 - 11181995;8325634 5772;646981 ABBA01027827;AL162255;AMYH02002223;CH471067;NG_006956 EAW91031 PTPN2P;PTPTP1 APPROVED pseudo HGNC:9653 INFERRED 1353047 PTPN20B protein tyrosine phosphatase, non-receptor type 20B The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] 10 10 10 q11.22 45164481 45182568 - 48737042 48827942 - 46911420 47002320 + 6480464 12477932;15164054;15489334;15790311;24250222 26095 Q4JDK3;Q4JDL3;Q9Y406 ABBA01000033;AC253575;AL050040;AL358791;AMYH02022902;AMYH02022903;AMYH02022904;AMYH02022905;AMYH02022906;AMYH02022907;AMYH02022908;AMYH02022909;AMYH02022910;AMYH02022911;AMYH02022912;AMYH02022913;AY704141;AY704142;AY704143;AY704144;AY704145;AY704146;AY704147;AY704148;AY704149;AY704150;AY704151;AY704152;AY704153;AY704154;AY704155;AY704156;AY704157;AY704158;AY753191;BC036539;BC093750;BC113473;BC143394;BC171725;BU567804;BX005072;BX648913;CH471251;CR933668;NM_001042357;NM_001042358;NM_001042359;NM_001042360;NM_001042361;NM_001042362;NM_001042363;NM_001042364;NM_001042365;NM_001042387;NM_001042389;NM_001042390;NM_001042391;NM_001042393;NM_001042394;NM_001042395;NM_015605;XM_005270315;XM_005277652;XM_006717754;XM_006717755;XM_006717756 AAH93750;AAI13474;AAI41461;AAI43395;AAI71725;AAW28780;AAW28781;AAW28782;AAW28783;AAW28784;AAW28785;AAW28786;AAW28787;AAW28788;AAW28789;AAW28790;AAW28791;AAW28792;AAW28793;AAW28794;AAW28795;AAW28796;AAW28797;AAW88572;CAB43248;CAI45965;EAW50662;NP_001035816;NP_001035817;NP_001035818;NP_001035819;NP_001035820;NP_001035821;NP_001035822;NP_001035823;NP_001035824;NP_001035846;NP_001035848;NP_001035849;NP_001035850;NP_001035852;NP_001035853;NP_001035854;NP_056420;Q4JDL3;XP_005270372;XP_005277709;XP_006717817;XP_006717818;XP_006717819 Hs.440733;Hs.499552 CT126;DKFZp566K0524;DKFZp781P23155;PTPN20A;bA142I17.1;bA42B19.1;hPTPN20 OTTHUMP00000019540;OTTHUMP00000019541;OTTHUMP00000019542;OTTHUMP00000217230;OTTHUMP00000217231;OTTHUMP00000217233;OTTHUMP00000217234;OTTHUMP00000217235;OTTHUMP00000217236;OTTHUMP00000217237;OTTHUMP00000217238;OTTHUMP00000217239;OTTHUMP00000217240;OTTHUMP00000217241;OTTHUMP00000217242;OTTHUMP00000217243;OTTHUMP00000217244;OTTHUMP00000217247;cancer/testis antigen 126;protein tyrosine phosphatase, non-receptor type 20;tyrosine-protein phosphatase non-receptor type 20 APPROVED protein-coding ENSG00000204179 HGNC:23423 10898 610630;610631 REVIEWED 1317504 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009] 1 1 1 p13.2 112585654 112643598 - 114356433 114414375 - 113813811 113871753 - 1580863;5147973;6480464;6484692;6484550;6484551;6484548;6484549;6484552;6484535;6484673;6484670;6484592;6484733;6484734;6484538;6484668;6484722;6484553;6484595;6484524;6484667;6484723;6484729;6484710;7240710;7829736;7829739;7829746;7829747;7829764;7829744;7829738;7829741;7829762;7829737;7829761;7829763;7829745;7829765;8554872 15004560;15208781;15504986;15719322;15934099;16015369;16078327;16464986;16829308;17092257;17608818;17660222;18301444;18341666;18426414;18587394;18687223;18764813;18923449;19563523;19693092;19780033;20039785;20070289;21131644;21279993;21410964;21467606;21597364;21846984;21873553;22374238;22396730;22493691;22722472;23619366;23946333 10068674;10940933;11882361;12477932;12764153;1373816;15273934;15531553;15620463;15641066;15641088;15674368;15734872;15759012;15790351;15875058;15883854;15933742;15943829;15986374;16052172;16052563;16098055;16107870;16112033;16163373;16164701;16175503;16185327;16185328;16229750;16273109;16277672;16279843;16279844;16320352;16322396;16339849;16344560;16380915;16385499;16391555;16437561;16456530;16461343;16470599;16490755;16507117;16507123;16539704;16614815;16635271;16671953;16671954;16690411;16690758;16697661;16750991;16760194;16764945;16868974;16870103;16893384;17000021;17003357;17034023;17054449;17066073;17130532;17133579;17133608;17135225;17148556;17158136;17159887;17170052;17223967;17237219;17259401;17334650;17341507;17436241;17452059;17472988;17493151;17553139;17554260;17554300;17579671;17600378;17624340;17632545;17660221;17661906;17665434;17666450;17666451;17696275;17697317;17729039;17804836;17854359;17868256;17878369;17931634;17934143;17941906;17961776;17961971;17982455;18001305;18028494;18037273;18056643;18056891;18065500;18078626;18156150;18179648;18194365;18194462;18200060;18204446;18240242;18248681;18252906;18292987;18299186;18305142;18310307;18375541;18375974;18398946;18462498;18466461;18466472;18466483;18466513;18466515;18466531;18466535;18474664;18489434;18533277;18535030;18556337;18576360;18578611;18580482;18668548;18710467;18759295;18794853;18804983;18812394;18818748;18821667;18839133;18978792;18981062;19019335;19028372;19034456;19046301;19073967;19084113;19090780;19107641;19115939;19141582;19167335;19177473;19180256;19180477;19188433;19210878;19210888;19237203;19248096;19264985;19265110;19327125;19328948;19343596;19357851;19371084;19406179;19419839;19430480;19438904;19470526;19473815;19503088;19503742;19516267;19527514;19567623;19586056;19648126;19648290;19714314;19714585;19741008;19760754;19815302;19833889;19895409;19898480;19913121;19951419;19956096;20008090;20014019;20015215;20016199;20033399;20083307;20088380;20089178;20090771;20101775;20141578;20166877;20176734;20203524;20204370;20233754;20331840;20353580;20378605;20388740;20403149;20410501;20438787;20439292;20445565;20453842;20476860;20498205;20510318;20518841;20522204;20538612;20549515;20553389;20560680;20560812;20604892;20615141;20628086;20696024;20707220;20739780;20805278;20822712;20848568;20849903;20881011;20888443;20921970;20962850;20965855;20975833;21044313;21054240;21078766;21102463;21113673;21156761;21193990;21287672;21352425;21384170;21429197;21506938;21515266;21543514;21585555;21599705;21688149;21706348;21719704;21724255;21752868;21804190;21818561;21829393;21908482;21923648;21949702;21956362;21965649;22003931;22068554;22069277;22105996;22150086;22197427;22209972;22210423;22212723;22237046;22327470;22357962;22427951;22429252;22505724;22511809;22513164;22544573;22569400;22572103;22614276;22632125;22661643;22696186;22704547;22743847;22857794;22880107;22891215;22952725;23025987;23054006;23055271;23076337;23098231;23128233;23251661;23261816;23264102;23291413;23314521;23333624;23350658;23359562;23370857;23380085;23438410;23453606;23456301;23463390;23480181;23499775;23535729;23559857;23570882;23613482;23613833;23637320;23913970;23936838;23944755;23950893;23966601;23974994;23991106;24055692;24103478;24260237;24273926;24390342;24449572;24880676;9582365 26191 B4DZW8;E9PM87;E9PMK2;E9PMT0;F5H2S8;Q9Y2R2 AA836401;ABBA01068458;AF001846;AF077031;AF150732;AK303124;AK310570;AK310698;AL137856;AMYH02001775;AMYH02001776;BC017785;BC071670;CH471122;DB145424;DN997966;EF064714;GU479452;JN084012;NG_011432;NM_001193431;NM_012411;NM_015967;U69700;XM_005270738 AAB09079;AAD00904;AAD27764;AAF67472;AAH17785;AAH71670;ABK41897;ADD59979;AEL79472;BAG64230;EAW56573;EAW56574;EAW56575;EAW56576;NP_001180360;NP_036543;NP_057051;Q9Y2R2;XP_005270795 Hs.535276 1656516;1676752;1692954 AL034193;RH117;SHGC-75350 LYP;LYP1;LYP2;PEP;PTPN8 OTTHUMP00000013720;OTTHUMP00000013721;OTTHUMP00000233450;OTTHUMP00000233451;PEST-domain phosphatase;hematopoietic cell protein-tyrosine phosphatase 70Z-PEP;lymphoid phosphatase;lymphoid-specific protein tyrosine phosphatase;protein tyrosine phosphatase, non-receptor type 8;tyrosine-protein phosphatase non-receptor type 22 APPROVED protein-coding ENSG00000134242 HGNC:9652 06100 152700;180300;222100;600716 REVIEWED 734205 PTPN21 protein tyrosine phosphatase, non-receptor type 21 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008] 14 14 14 q31.3 68977718 69066716 - 88932122 89021123 - 88465778 88554779 - 1580863;6480464;8554872 10585123;11013262;12477932;15143158;16344560;16918960;18223254;19000305;20923765;21752600;7519780;7838537;8889548;9685376 11099 G3V1Q9;G3V3S6;H0YJ59;Q16825 ABBA01030529;ABBA01030530;ABBA01030531;AI800682;AK310480;AL049834;AL162171;AL353786;AMYH02029698;AMYH02029699;AMYH02029700;BC143846;BC143847;BM930068;CH471061;DA860560;KF455978;NM_007039;X79510;XM_005267287;XM_006720011 AAI67856;CAA56042;CAD19000;EAW81382;EAW81383;NP_008970;Q16825;XP_005267344;XP_006720074 Hs.437040 1658599;1664435;1688398;1775594;1848983;2161364;2168061;2185805 D14S1322;D14S1347;G35383;G35957;G36125;RH70921;RH91423;SHGC-35706 PTPD1;PTPRL10 OTTHUMP00000244372;dJ1175B15.2 (protein tyrosine phosphatase, non-receptor type 21);protein tyrosine phosphatase D1;protein-tyrosine phosphatase D1;tyrosine-protein phosphatase non-receptor type 21 APPROVED protein-coding ENSG00000070778 HGNC:9651 04468 603271 REVIEWED 1322781 PTPN3 protein tyrosine phosphatase, non-receptor type 3 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 9 9 9 q31 82637279 82759899 - 112137974 112260593 - 109375694 109498320 - 1580863;6480464 10364224;10940933;12207026;12477932;12907755;14672952;14702039;15161933;15588985;15778465;1626183;16344560;1648725;16930557;17166906;17588219;17921143;17947517;18978678;19167335;20332238;20936779;21119599;22334442;22730326;24227889;24503127;7874267;8253532;9341175 5774 B7Z3V3;B7Z8K9;B7Z9V1;B7ZA03;J3KN34;P26045;Q8N4S3 ABBA01042761;ABBA01042762;ABBA01042763;AK096975;AK295875;AK296265;AK296388;AK303608;AK304434;AK308349;AK316066;AK316118;AL162733;AL359963;AL450025;AMYH02021436;AMYH02021437;AMYH02021438;AMYH02021439;BC033716;BC063287;BC126117;BC143848;BU624870;BX648253;BX648735;CH471105;CR749204;DB173093;DB306298;DC342461;DQ104439;M64572;NM_001145368;NM_001145369;NM_001145370;NM_001145371;NM_001145372;NM_002829;NR_026918;S39392;S76309;W15441;XM_006717197;XM_006717198;XM_006717199;XM_006717200;XM_006717201;XM_006717202;XM_006717203;XM_006717204;XM_006717205;XM_006717206;XM_006717207 AAA35647;AAB22439;AAB33583;AAH33716;AAI26118;AAI43849;AAZ20185;ADR83422;BAH12211;BAH12296;BAH12339;BAH13995;BAH14184;BAH14437;BAH14489;CAH18062;EAW59045;EAW59046;EAW59047;NP_001138840;NP_001138841;NP_001138842;NP_001138843;NP_001138844;NP_002820;P26045;XP_006717260;XP_006717261;XP_006717262;XP_006717263;XP_006717264;XP_006717265;XP_006717266;XP_006717267;XP_006717268;XP_006717269;XP_006717270 Hs.436429 1666606;1673506;1683321;1774535;1787016;1798046;1854958;2129594;2136707;2177651;2178319;5093696 A009V09;D9S1693;D9S1760;D9S58;G32870;PTPN3_2445;RH48492;RH78381;RH91146;SHGC-149695;STS-W15441;WI-10390 DKFZp686N0569;PTP-H1;PTPH1 OTTHUMP00000021885;cytoskeletal-associated protein tyrosine phosphatase;protein tyrosin phosphatase H1;protein-tyrosine phosphatase H1;tyrosine phosphatase;tyrosine-protein phosphatase non-receptor type 3 APPROVED protein-coding ENSG00000070159 HGNC:9655 06767 176877 REVIEWED 1605720 PTPN7 protein tyrosine phosphatase, non-receptor type 7 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 1 q32.1 175240001 175253609 - 202116141 202130716 - 202147013 202161588 - 6480464;6907045;8554872 10206983;10415025;10559944;10702794;10940933;11704759;12056917;12058348;12161469;12477932;12592337;1370651;14613483;1510684;1530918;15489334;16226275;16441242;19053285;19167335;20668459;21832049;22505724;23535733;24816145;7545170;8125298;8309248;9624114 5778 B4DDG6;B4DX06;B4DZD9;C9IYI6;C9JAW7;C9JBA9;E7EUM0;E9PE54;F8WEY3;F8WF08;F8WF66;H7C4T8;H7C5I3;J3KR55;P35236 ABBA01027509;AF394064;AK127214;AK225920;AK293186;AK301051;AK301757;AK301980;AK302869;AK311661;AL592300;AMYH02002492;BC001746;BG340453;BT009848;CH471067;D11327;DC399028;M64322;NM_001199797;NM_002832;NM_080588;NR_037663;NR_037664;S78090;XR_426791 AAA59531;AAH01746;AAM69538;AAP88850;BAA01946;BAG54453;BAG56727;BAG62662;BAG63218;BAG63388;BAG64051;EAW91400;EAW91401;EAW91402;EAW91403;EAW91404;EAW91405;NP_001186726;NP_002823;NP_542155;P35236 Hs.402773 1681026;1764105;1773395;1781742;2183008;5014063;5015861;5037552;7185938 D10S16;D15S1390;D1S3298;D8S2279;RH68192;RH93215;SHGC-147757;SHGC-155354 BPTP-4;FLJ18703;HEPTP;LC-PTP;LPTP;PTPNI OTTHUMP00000034113;OTTHUMP00000034115;OTTHUMP00000216732;OTTHUMP00000216736;dual specificity phosphatase 1;hematopoietic protein-tyrosine phosphatase;protein-tyrosine phosphatase LC-PTP;protein-tyrosine phosphatase, nonreceptor-type, stress induced;tyrosine-protein phosphatase non-receptor type 7 APPROVED protein-coding ENSG00000143851 HGNC:9659 01480 176889 REVIEWED 1353327 PTPN9 protein tyrosine phosphatase, non-receptor type 9 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [provided by RefSeq, Jul 2008] 15 15 15 q24.2 52686185 52797231 - 75759462 75871625 - 75467121 75579291 - 1580863;6480464 10940933;11711529;12112018;12477932;12907755;12920026;14662869;15322554;15489334;1557404;16189514;16679294;17387180;19167335;20174665;20189936;20335174;21890473;22394684;22623531;22763125;22990118;23383273;24324551 5780 H3BQT6;P43378;Q6IQ43 ABBA01060525;ABBA01060526;ABBA01060527;ABBA01060528;ABBA01060529;ABBA01060530;AC105036;AC105137;AMYH02030815;AMYH02030816;AMYH02030817;AMYH02030818;AMYH02030819;BC010863;BC071574;BT007405;CH471136;KF456098;M83738;NM_002833 AAA60226;AAH10863;AAH71574;AAP36073;ABM81912;EAW99247;EAW99248;NP_002824;P43378 Hs.445775 1650538;1655869;1773554;1796594;2115057;2173422;5093894 A009Y26;G10644;G17833;G32986;PTPN9_399;RH77799;WI-7786 MEG2;PTPMEG2 OTTHUMP00000183522;PTPase MEG2;PTPase-MEG2;protein-tyrosine phosphatase MEG2;tyrosine-protein phosphatase non-receptor type 9 APPROVED protein-coding ENSG00000169410 HGNC:9661 02864 600768 REVIEWED 731746 PTPN11 protein tyrosine phosphatase, non-receptor type 11 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 12 12 12 q24 112483686 112574781 + 112856536 112947717 + 112418732 112509918 + 1581292;1601571;1580863;2289807;1641809;2293185;1642762;2299174;1299201;2290530;5686834;6480464;6484113;6907045;7240710;8554872;8699517 11992261;12058348;12891559;14685170;16426581;17021051;17872473;18175071;22029668;7711057 10022928;10068651;10080542;10082579;10206955;10209036;10212213;10327049;10350061;10381539;10382761;10386953;10391903;10449753;10457220;10499918;10521483;10617656;10650943;10655584;10660620;10671568;10681522;10681592;10734310;10747947;10777583;10790433;10800945;10801826;10871282;10880513;10903717;10940933;10946280;10949653;10962556;10976913;10991949;11018044;11036942;11134009;11136824;11157475;11171044;11223155;11224527;11266449;11278955;11287610;11323411;11328818;11334882;11353842;11360177;11382784;11389028;11414741;11432792;11433379;11447289;11466412;11477068;11489943;11491537;11544253;11594781;11602579;11689425;11704759;11714803;11739737;11743164;11751924;11781100;11782427;11786908;11806999;11812650;11896619;11940581;11956229;11986327;12051764;12060651;12070037;12108545;12115002;12135708;12161469;12161596;12176037;12177051;12237455;12270932;12325025;12370245;12384786;12399420;12403768;12444928;12477932;12522270;12529707;12529711;12531430;12543077;12552462;12577067;12582165;12634870;12676785;12681492;12707331;12717436;12739139;12752577;12774026;12796776;1280823;1281790;12824191;12959980;12960218;1370651;14522994;14534538;14560030;14644997;14665621;14687660;14701753;14961557;14982869;14982882;14991917;15001945;15031289;15062102;15102829;15121796;15128762;15133037;15146197;15169898;15187115;15240615;15282682;15356145;15384080;15385933;15389709;15489334;15507525;15520399;15521065;15539800;15556604;15563458;15574420;15588985;15592455;15601262;15644411;15690106;15708852;15723289;15725481;15747776;15834506;15856031;15888547;15928039;15940693;15948193;15951301;15951569;15956085;15985432;15985475;15987685;16030196;16032704;16053901;16094384;16208280;16250012;1626183;16273093;16306077;16337946;16339483;16344560;16354697;16358218;16360206;16380919;16488201;16498234;16518851;16523510;16533526;16598312;16679933;16684964;16729043;16762922;16825188;16905534;16914719;16920701;16963136;17020470;17028265;17052965;17053061;17138568;17143285;17157259;17177198;17185494;17211446;17211494;17213291;17214991;17235629;17272397;17330262;17330819;17339163;17403678;17453145;17497712;17515436;17546245;17554300;17561098;17664338;17672918;17717529;17875892;17910045;17942397;17962719;17972951;18159945;18203203;18223690;18241070;18246201;18331608;18348260;18372317;18381291;18519587;18543080;18559669;18562489;18564921;18577518;18593762;18617527;18640765;18643929;18647419;18660489;18712962;18728972;18758896;18827006;18829466;18832710;19020799;19047918;19056419;19066472;19077116;19096001;19120036;19133257;19133693;19160029;19166311;19172738;19189703;19206169;19240061;19261604;19275884;19287004;19290061;19322201;19336370;19351817;19352411;19380743;19427850;19449407;19509418;19528235;19582499;19589142;19589868;19681119;19690960;19706677;19725129;19735729;19737548;19738201;19760651;19768645;19773259;19776760;19820697;19822020;19864201;19874312;19909739;19915046;20004456;20006740;20064076;20080972;20170098;20186801;20237281;20237506;20301303;20301557;20302979;20308328;20398180;20453000;20472558;20512931;20543023;20577567;20578946;20631249;20634891;20671117;20673499;20697350;20700123;20718194;20723025;20734064;20829714;20840817;20855525;20880116;20954246;20958258;21047965;21048031;21060863;21068439;21106241;21139048;21145937;21169408;21365683;21407260;21419049;21528083;21531714;21533187;21548061;21565611;21572416;21575863;21590266;21663700;21670473;21706016;21726809;21887223;21890473;21903867;22043923;22139419;22228034;22260263;22391158;22411627;22493691;22503907;22504523;22528229;22589543;22628433;22629427;22644489;22681964;22711165;22711529;22777296;22777356;22781091;22788847;22806893;22863883;22869052;22889324;22890240;22891281;22939629;22942432;22956765;22974441;23000965;23029125;23045525;23065156;23082805;23189174;23192641;23263486;23269672;23271399;23297363;23318428;23321164;23335101;23343958;23363816;23382639;23401857;23455381;23457302;23512980;23530062;23582017;23584145;23624134;23672255;23726368;23770849;23792876;23813970;23822953;23825065;23922991;23980151;24034393;24114215;24183200;24225993;24285539;24297342;24390342;24431450;24496301;24599474;24628801;24654937;24816145;24935154;7493946;7522233;7523381;7559603;7589239;7642582;7673163;7681217;7681589;7688466;7691811;7894486;7935386;8041791;8135823;8183573;8195176;8197172;8216283;8505282;8530013;8541543;8619474;8638161;8639815;8662733;8702859;8766558;8810330;8879209;8890167;8910607;8912646;8943344;8943348;8959326;8986614;8995399;9029147;9054388;9062191;9110174;9110989;9162089;9188452;9188788;9195950;9195977;9254654;9282923;9285412;9344843;9361008;9362449;9379041;9388212;9405464;9422771;9485206;9491886;9528781;9535915;9565634;9600074;9632636;9632781;9658397;9756938;9756944;9774457;9792637;9804835;9824671;9847309;9867848;9886492;9918857;9973385 5781 H0YF12;Q06124 ABBA01019934;ABBA01019935;ABBA01019936;ABBA01019937;AC004086;AC004216;AK289854;AK312147;AMYH02027223;AMYH02027224;AU123593;BC007869;BC008692;BC025181;BC030949;BF515187;BT007106;BX537632;CH471054;CN258646;D13540;EU779706;EU779707;EU779708;L03535;L07527;L08807;NG_007459;NM_002834;NM_080601;S39383;S78088;U79291;X70766;XM_006719526;XM_006719527 AAA17022;AAA36611;AAB21148;AAH08692;AAH25181;AAH30949;AAP35770;ACE60554;ACE60555;ACE60556;BAA02740;BAF82543;BAG35082;CAA50045;EAW98011;EAW98012;NP_002825;NP_542168;Q06124;XP_006719589;XP_006719590 Hs.506852 1342050;1774844;1796588;1858273;2127739;2133207;2166444;2180929;5094066;5124615 D12S1863;D12S1920;D12S84;G34953;PTPN11_1308;RH67010;RH78116;SHGC-30316;WI-18740;WI-7628 BPTP3;CFC;MGC14433;NS1;PTP-1D;PTP-2C;PTP2C;SH-PTP2;SH-PTP3;SHP2 OTTHUMP00000166107;OTTHUMP00000166108;protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1);protein tyrosine phosphatase-2;protein-tyrosine phosphatase 1D;protein-tyrosine phosphatase 2C;tyrosine-protein phosphatase non-receptor type 11 APPROVED protein-coding ENSG00000179295 HGNC:9644 01470 151100;156250;163950;176876;607785 REVIEWED 736589 PTPN5 protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) ENCODES a protein that exhibits phosphotyrosine binding; INVOLVED IN peptidyl-tyrosine dephosphorylation (inferred); protein dephosphorylation (inferred); PARTICIPATES IN mitogen activated protein kinase signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH atrazine; trichostatin A; valproic acid 11 11 11 p15.1 18885312 18948746 - 18749475 18814268 - 18727928 18792721 - 6480464;6907045;8554872 11983687;12477932;14702039;15174051;16441242;1714595;19000305;20379614;20427654;20699650;21044950;21883219;21988832;22555153;2263249;22649233;22885232;23648065;24588402;7490079;9272866;9857190 84867 A8MXF1;B7Z2F8;E9PLZ4;P54829;Q86TL3 ABBA01061044;ABBA01061045;ABBA01061046;ABBA01061047;AC103974;AK027333;AK055450;AK090923;AK127312;AK294374;AK294673;AK295604;AK316270;AL832541;AMYH02024402;AMYH02024403;BC039897;BC046435;BC064807;CH471064;NM_001039970;NM_001278236;NM_001278238;NM_001278239;NM_006906;NM_032781;U27831 AAA87555;AAH39897;AAH46435;AAH64807;BAC03548;BAG54479;BAH11749;BAH11844;BAH12122;BAH14641;CAD38632;EAW68363;EAW68364;EAW68365;EAW68366;EAW68367;EAW68368;NP_001035059;NP_001265165;NP_001265167;NP_001265168;NP_008837;NP_116170;P54829 Hs.79092 1655723;1731237;2134259;2138482;2175689 A004A23;D11S1205;D11S455;RH11974;SHGC-32421 FLJ14427;PTPSTEP;STEP OTTHUMP00000165937;OTTHUMP00000165938;OTTHUMP00000165960;OTTHUMP00000231888;neural-specific protein-tyrosine phosphatase;protein tyrosine phosphatase, non-receptor type 5;protein-tyrosine phosphatase striatum-enriched;striatum-enriched protein-tyrosine phosphatase;tyrosine-protein phosphatase non-receptor type 5 protein-coding ENSG00000110786 HGNC:9657 01472 176879 VALIDATED 1323122 PTPN18 protein tyrosine phosphatase, non-receptor type 18 (brain-derived) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 2 2 2 q21.1 124386923 124406317 + 131113580 131132982 + 130356007 130375409 + 1580863;6480464 11158295;11163214;11971877;12477932;12554790;14660651;15588985;15951569;16094384;16303740;16341674;21706016;8950995;9265651;9422760;9804817 26469 E7EMB8;F8WBM9;Q99952 ABBA01017957;ABBA01017958;AC132479;AK297884;AK303804;AK311140;AMYH02004775;BC024280;BC031076;BC041562;BC052800;BI261717;BM789073;CA310199;CH471263;DN995571;NM_001142370;NM_014369;X79568;XM_006712415;XM_006712416;XM_006712417 AAH24280;AAH41562;AAH52800;AAY24077;BAG60207;BAG64758;CAA56105;EAW55617;EAW55618;EAW55619;EAW55620;EAW55621;NP_001135842;NP_055184;Q99952;XP_006712478;XP_006712479;XP_006712480 Hs.516390;Hs.744861 1658373;1664609;1677875;2144904;2152966;2178096;5014051;5015619;5021872;5022200;5037552 D11S3114;D8S2278;D8S2279;L18426;RH11750;RH66204;RH70023;RH80366;SHGC-31844;STS-X79568;sY3084 BDP1;PTP-HSCF OTTHUMP00000162398;OTTHUMP00000204517;OTTHUMP00000204518;brain-derived phosphatase;tyrosine-protein phosphatase non-receptor type 18 APPROVED protein-coding ENSG00000072135 HGNC:9649 05961 606587 REVIEWED 1316480 PTPN4 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008] 2 2 2 q14.2 113842942 114061903 + 120517207 120742496 + 119759631 119984899 + 1580863;6480464;8554872 10748123;10940933;11054567;12477932;15489334;16169070;16226712;1648233;17474147;18614237;21900206;21988832;23666597;24250222;8910369;8917530 5775 F5H020;J3KQD3;J3KQP5;J3QT41;J3QT59;J3QT89;P29074 ABBA01045918;ABBA01045919;ABBA01045920;ABBA01045921;ABBA01045922;ABBA01045923;AC016691;AC069154;AC092455;AC104061;AC104668;AC116632;AK025546;AK301218;AK314836;AMYH02004650;AMYH02004651;AMYH02004652;AMYH02004653;BC010674;BC037838;BX648614;CH471103;KF456698;KF456699;KF456700;M68941;NM_002830 AAA36530;AAH10674;AAX82012;AAX88858;AAY14805;AAY24016;ADZ15528;BAG37355;BAH13435;EAW95231;EAW95232;NP_002821;P29074 Hs.469809 1677334;1684166;1715523;2144358;2153728;2177643;2217872 PTPN4_3121;RH120908;RH65502;RH68765;RH91837;SHGC-33019;SHGC-35144 MEG;PTPMEG;PTPMEG1 OTTHUMP00000162133;PTPase-MEG1;megakaryocyte phosphatase;megakaryocyte protein-tyrosine phosphatase;protein tyrosine phosphatase MEG1;protein-tyrosine phosphatase MEG1;tyrosine-protein phosphatase non-receptor type 4 APPROVED protein-coding ENSG00000088179 HGNC:9656 01471 176878 REVIEWED 1349193 PTPRCAP protein tyrosine phosphatase, receptor type, C-associated protein The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. [provided by RefSeq, Jul 2008] 11 11 11 q13.3 64536095 64538351 - 67202981 67205153 - 67435510 67437682 - 1580863;6480464 10602003;11250890;11390434;12477932;12595907;15372250;15489334;16169070;19738201;20019842;7961877;8537410;8954783;8980254 5790 Q14761 ABBA01024033;ABBA01024034;AK312022;AMYH02024996;AP003419;BC113859;BC114467;CH471076;CR457429;NM_005608;X81422;X97267 AAI13860;AAI14468;BAG34959;CAA57182;CAA65922;CAG33710;EAW74622;NP_005599;Q14761 Hs.155975 1771402;2167621 RH41895;STS-X97267 CD45-AP;LPAP;MGC138602;MGC138603 CD45 associated protein;CD45-associated protein;OTTHUMP00000197050;PTPRC-associated protein;lymphocyte phosphatase-associated phosphoprotein;protein tyrosine phosphatase receptor type C-associated protein;protein tyrosine phosphatase, receptor type, c polypeptide-associated protein APPROVED protein-coding HGNC:9667 09032 601577 REVIEWED 8548407 PTPRD-AS1 PTPRD antisense RNA 1 9 9 p24.1 8858018 8862125 + 8858018 8862125 + 14702039;16344560 101929407 ABBA01065357;AK094342;AL596451;AMYH02019132;DA788948;DB495850;DB541705;HG501886;NR_121599;NR_121600;XR_242529;XR_250451;XR_252510 Hs.649971 RP11-75C9.1 ncrna HGNC:49753 VALIDATED 8548279 PTPRD-AS2 PTPRD antisense RNA 2 (head to head) 9 9 10613206 10620420 + 10613206 10620420 + 12477932 101929428 ABBA01065346;AL135790;AMYH02019157;BC045688;HG501890;NR_110696;XR_242530;XR_250450;XR_252511 Hs.434446 RP11-87N24.2 ncrna ENSG00000226717 HGNC:49754 VALIDATED 734188 PTPN6 protein tyrosine phosphatase, non-receptor type 6 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008] 12 12 12 p13 8674361 8691497 + 7055740 7070479 + 6946577 6961316 + 1580863;2290530;6480464;6484113;6907045;5133675;8554872 16426581;18804122 10072516;10082557;10206955;10228003;10229828;10350061;10457220;10458769;10488096;10497187;10506221;10506573;10521452;10574931;10585470;10617656;10640770;10660565;10660620;10747947;10764762;10772872;10790433;10800945;10835420;10903717;10903736;10940933;11001933;11027300;11042209;11114375;11160222;11162587;11171044;11178971;11266449;11278955;11294838;11328818;11337495;11356834;11414741;11489943;11511520;11544253;11551923;11714803;11723252;11786908;11812650;11826756;11858824;11895767;11907066;11920268;11964172;11986327;11987243;12051764;12130517;12145285;12145687;12163025;12176037;12176909;12196526;12198247;12361947;12393607;12438221;12459556;12468540;12468645;12477932;12482860;12571228;12591278;12646642;12705885;12734331;12774026;12791978;12796776;12832410;12882840;12917349;14500659;14551136;14630083;14662855;14672952;14691303;14976049;15070900;15184070;15187115;15197735;15269224;15339845;15456853;15489334;15549731;15557341;15574429;15579525;15588985;15701718;15746253;15831474;15870198;16169070;16326706;16341674;16344560;1639416;16453023;16482509;16501054;1652101;17046078;17079228;17142110;17143285;17218319;17227821;17239936;17272397;1732748;1736296;17404032;17561098;17579069;18029348;18086677;18174230;18209728;18377662;18441283;18502033;18543080;18604210;18729074;18802077;18948549;18952289;19056867;19096001;19104650;19147543;19166311;19167335;19204726;19234487;19379557;19398961;19542910;19543515;19551406;19561639;19591923;19619438;19749791;19789387;19838216;19874234;19950550;20068065;20117097;20130595;20196786;20351292;20398180;20424160;20687222;20696858;20840866;21291405;21357539;21406173;21465528;21505184;21505186;21536801;21604205;21719561;21799016;21806449;21818116;21821701;21890473;21900501;21906983;21964525;22043923;22180308;22210881;22258937;22371396;22458809;22458980;22488585;22505724;22539788;22589543;22730659;22738830;22939629;22960265;23074279;23391724;23406209;23729600;23766558;23842094;23979523;24100145;24510345;24816145;24824657;24886428;25015289;7512963;7518460;7528577;7539038;7539106;7618087;7629131;7665165;7673163;7684496;7716523;7781604;7889566;8114715;8125298;8246974;8524272;8541543;8574854;8627166;8632004;8638162;8647855;8692915;8760799;8780698;8790380;8943344;8943354;9029147;9045636;9064344;9074930;9148918;9151699;9162089;9211920;9244303;9254654;9261115;9285411;9285412;9305905;9368621;9379041;9405464;9482905;9485206;9507021;9520455;9528781;9531263;9590210;9632636;9632768;9712903;9733788;9740800;9765283;9774441;9774457;9788431;9813145;9842885;9867848;9890995;9973385 5777 F5GXD4;F5GY79;F5H0N8;F5H1V7;F5H1Z8;F5H4Z1;F5H5H9;P29350;Q53XS4;U3KQS1 AB079851;ABBA01017669;ABBA01017670;AF178946;AK223629;AK290421;AK298470;AK300167;AK308230;AK313379;AMYH02025958;BC002523;BC007667;BG754792;BM006699;BM742181;BT007390;CH471116;CR986427;DA431502;DA868001;DC297194;HI573994;HI573996;M74903;M77273;NM_002831;NM_080548;NM_080549;U15528;U15536;U15537;U47924;XM_006718994 AAA35963;AAA36610;AAA82879;AAA82880;AAB51322;AAB51323;AAD53317;AAH02523;AAH07667;AAP36054;ABM82872;ABM86059;BAC81774;BAC81775;BAD97349;BAF83110;BAG36177;BAG60682;BAG61949;CBX47486;CBX47487;EAW88700;EAW88701;EAW88702;EAW88703;EAW88704;NP_002822;NP_536858;NP_536859;P29350;XP_006719057 Hs.63489 1651369;1676144;2165198;5113557 RH46958;RH79905;RH80060;SHGC-31976 HCP;HCPH;HPTP1C;PTP-1C;SH-PTP1;SHP-1;SHP-1L;SHP1 OTTHUMP00000238910;OTTHUMP00000238912;hematopoietic cell phosphatase;hematopoietic cell protein-tyrosine phosphatase;protein-tyrosine phosphatase 1C;protein-tyrosine phosphatase SHP-1;tyrosine-protein phosphatase non-receptor type 6 APPROVED protein-coding ENSG00000111679 HGNC:9658 01475 176883 REVIEWED 1346203 PTPRE protein tyrosine phosphatase, receptor type, E The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Two alternatively spliced transcript variants of this gene have been reported, one of which encodes a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; Another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokines induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Jul 2008] 10 10 10 q26 123376798 123555655 + 129705325 129884180 + 127907061 128085916 + 1580863;6480464;8554872 10490839;10859312;10921884;10980613;12121439;12193229;12376545;12477932;12615930;12754301;12861030;14702039;14980517;15390114;15489334;15522235;15588985;15738637;15845350;16344560;16385451;17903293;18029348;18093973;18682798;19167335;20174665;20201926;20379614;2170109;21734400;21906983;22117074;22952603;24816145;7566098;7835887;8586417;8595895;8618876;8786123;8838320;8889548 5791 B4DRZ3;P23469;Q5VWH5;Q5VWH6;Q96P81;S4R2Y5;S4R3B0;S4R3X3;S4R448 AA362195;ABBA01009091;ABBA01009092;AF406557;AJ315969;AJ430580;AK001335;AK026334;AK056111;AK290414;AK291828;AK299498;AK300613;AL158166;AL390236;AL832042;AMYH02024021;BC031078;BC050062;BC071573;BE246451;BI559814;BI910569;BM970048;BQ006544;BU159075;BU742614;BX648180;CH471066;D20432;DA470230;DA949010;H17674;NG_029511;NM_006504;NM_130435;U36623;X54134;XM_005252691;XM_005252692;XM_006717932 AAC50324;AAH50062;AAL01375;ADZ16048;BAF83103;BAF84517;BAG61455;BAG62307;CAA38069;CAC86583;CAD23182;CAH10411;EAW49180;EAW49181;EAW49182;EAW49183;EAW49184;EAW49185;EAW49186;NP_006495;NP_569119;P23469;XP_005252748;XP_005252749;XP_006717995 Hs.127022 1661191;1703290;1706946;1736154;1739961;1771266;1846688;1851969;1854853;1854855;2125256;2172349;2219576;5037552 A001W02;A008Y06;D10S1404E;D10S1554;D10S1623;D10S2229;D20S433;D8S2279;G19703;PTPRE_4144;RH44546;SHGC-68389;SHGC-80969;T15921 DKFZp313F1310;FLJ57799;FLJ58245;HPTPE;PTPE;R-PTP-EPSILON OTTHUMP00000020735;OTTHUMP00000020736;protein tyrosine phosphatase epsilon;protein tyrosine phosphatase, receptor type, epsilon polypeptide;protein-tyrosine phosphatase epsilon;receptor-type tyrosine-protein phosphatase epsilon APPROVED protein-coding ENSG00000132334 HGNC:9669 02956 600926 REVIEWED 736371 PTPRC protein tyrosine phosphatase, receptor type, C The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012] 1 1 1 q31-q32 171730687 171849073 + 198608098 198726605 + 198638968 198757476 + 1358566;1580863;1599983;6480464;6907045;7240710;8554872;8699517 11101853;11145714 10066810;10228003;10229804;10330160;10358156;10369126;10415030;10473580;10490978;10683443;10700239;10702677;10921916;11201744;11254687;11369760;11528386;11548742;11551930;11564800;11778694;11804554;11827988;11841494;11862398;11877294;11909961;11975983;11994288;12008046;12022705;12028593;12073144;12100025;12147336;12354383;12376545;12386161;12393728;12430875;12477932;12499376;12519755;12519789;12556471;12560083;12574355;12589038;12589045;12595907;12618866;12626536;12633939;12716971;12820694;12864992;12880639;1355979;1373652;14525771;14565647;14625311;14631169;14636588;14641523;14684825;14726805;14979481;14983037;15014144;15018649;15057492;15085197;15214936;15231748;15240561;15275963;15302935;15314282;15333587;15548260;15584483;15603882;15624328;15626731;15684325;15687496;15808544;15946252;15960938;15963758;16172127;16247487;16269626;16332974;16341674;16344560;16360841;16378074;16393978;1648262;16503409;16505159;16524887;16538473;1655467;1680916;16857986;1695146;16955142;16998493;16999868;17122895;17172930;17213291;17242371;17378731;17524482;17591854;17635802;17656643;17692374;17803443;17823079;17897956;1793833;18029348;18157742;18174230;18292296;18312479;1834739;18511809;18634151;18669861;18680516;18719244;18840711;18992193;19059880;19111528;19167335;19246294;19332764;19454697;19481264;19546439;19585516;19635795;1970422;1976695;19850743;19879912;19898481;19946888;20093141;20119835;20139978;20156100;20164196;20191119;20231690;20309874;20505149;20932480;21054833;21067564;21106704;21179414;21278234;21507955;21599592;2169617;21768350;21818290;21890473;21952639;21952740;22171268;22174689;22268729;22386990;22438252;22458809;22505724;22524693;22606231;22689986;22783574;22821963;22937208;23065155;23171577;23206327;23394998;23396948;23733486;23747721;23840798;23911702;23953137;23997015;24211716;24211831;24231767;24396288;24761979;24816145;25015289;2524382;2531281;2550143;2824653;2845400;2853967;2956090;2971730;7516335;7526385;7537381;7539755;7737297;7961877;8157290;8473339;8537410;8557683;8570203;8576115;8663450;8703037;8955171;8980254;9148925;9197241;9368621;9403695;9535845;9573028;9624153;9973453 5788 E9PKH0;M3ZCP1;M9MMK8;M9MMK9;M9MML3;M9MML4;P08575;Q0VAE8;X6R433 AA403163;AA904360;ABBA01027578;AF492459;AK130573;AK292131;AK299986;AK303539;AK307635;AK308217;AK310898;AL157402;AL355988;AMYH02002445;AY429565;AY429566;AY539659;AY539667;AY539675;AY539683;AY539691;AY539699;AY567999;BC014239;BC017863;BC031525;BC121086;BC121087;BC127656;BC127657;BC148257;BM791051;CH471067;DA670254;DA819314;DA948670;HC921483;HD063885;KF510707;M23463;M23492;M29253;NG_007730;NM_001267798;NM_002838;NM_080921;NR_052021;X14896;XM_006711472;XM_006711473;XM_006711474;XM_006711475;Y00062;Y00638 AAA59497;AAD15273;AAG26082;AAH14239;AAH17863;AAI21087;AAI21088;AAI27657;AAI27658;AAI48258;AAM12758;AAS46922;AAS46930;AAS46938;AAS46946;AAS46954;AAS46962;AAS75254;BAF84820;BAG61807;BAG64565;CAA68269;CAA68669;CBU30438;CBU83087;EAW91300;EAW91301;EAW91302;EAW91303;NP_001254727;NP_002829;NP_563578;P08575;XP_006711535;XP_006711536;XP_006711537;XP_006711538 Hs.654514 1298252;1337647;1666419;1681121;1707896;1758867;1775014;1791604;1798050;1847803;1853723;2120345;2139543;7186387 AL010096;D1S1660;D1S413;PMC116441P1;PTPRC_1163;RH45541;RH68702;RH70956;RH98676;SHGC-150577;SHGC-76094;SHGC-82196;STS-T93530 B220;CD45;CD45R;GP180;L-CA;LCA;LY5;T200 CD45 antigen;OTTHUMP00000033813;OTTHUMP00000033816;OTTHUMP00000033817;OTTHUMP00000038574;OTTHUMP00000038575;T200 glycoprotein;T200 leukocyte common antigen;glycoprotein;leukocyte common antigen;leukocyte-common antigen;protein tyrosine phosphatase, receptor type, c polypeptide;receptor-type tyrosine-protein phosphatase C APPROVED protein-coding ENSG00000081237 HGNC:9666 01050 151460;608971;609532 REVIEWED 7177416 PTPRG-AS1 PTPRG antisense RNA 1 3 3 3 62263617 62321714 - 62247494 62304622 - 62261819 62318947 - 12477932;14702039 100506994 ABBA01024329;AC092502;AK022901;AK094634;AK307209;AK308660;AMYH02006928;AMYH02006929;BC041886;NR_038281;NR_038282;NR_038283;R37661 Hs.656620;Hs.741349 2132730;2158541;2164803;5022200;5037552 D3S3934;D8S2279;L18426;RH12127;SHGC-77046 ncrna ENSG00000241472 HGNC:44638 VALIDATED 736543 PTPRA protein tyrosine phosphatase, receptor type, A The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008] 20 20 20 p13 2907196 3081302 + 2844841 3019316 + 2864195 3038669 + 1580863;6480464;6484113;8554872 10562275;10698938;10748206;10777529;10787408;10893241;11042685;11099722;11357934;11401727;11436129;11496365;11498265;11676480;11780052;11796915;11923305;12376545;12468645;12477932;12582170;12592337;12626515;1383828;14555984;14592422;14702039;15489334;15588985;15592455;15951569;1611910;16338072;1639427;17081983;17212655;18183590;18211905;18216165;18728972;18768480;19380743;19497848;20208566;20472558;20562859;21094165;21139048;21622556;2166945;2169617;2170109;2172030;21725282;2175890;21831360;21900206;21906983;22647903;23029023;23318421;23487342;23532252;24217252;24816145;7518772;7691597;8493579;8647855;8670803;8980254;9183007;9261115;9263011;9357975;9535845;9822658;9878055 5786 B7Z2A4;P18433;Q5JWG0;Q5JWG2;Q5JWG3 AB209702;ABBA01053799;ABBA01053800;ABBA01053801;ABBA01053802;ABBA01053803;ABBA01053804;AI284972;AK090743;AK290233;AK294499;AK294990;AK297293;AK297647;AL121905;AL161656;AMYH02036589;AMYH02036590;AMYH02036591;BC027308;BI597187;BQ213974;BX571753;CH471133;M34668;NM_002836;NM_080840;NM_080841;X53364;X54130;X54890 AAA36528;AAH27308;ABM82081;ABM85260;BAD92939;BAF82922;BAH11790;BAH11942;BAH12540;BAH12641;CAA37447;CAA38065;CAA38662;CAE11878;EAX10561;EAX10562;EAX10563;NP_002827;NP_543030;NP_543031;P18433 Hs.269577 1661323;1670423;1673624;1761573;1789078;1794190;1796596;2114024;2132127;2134405;2160063;5021500 AB046072;D20S731;G29236;G65674;PMC310823P9;PTPRA_1754;RH66062;SHGC-145577;SHGC-30809;STS-M34668;WI-16594;WI-9015 HEPTP;HLPR;HPTPA;LRP;PTPA;PTPRL2;R-PTP-alpha;RPTPA HPTPalpha;Leukocyte common antigen-related peptide (protein tyrosine phosphate);OTTHUMP00000030063;OTTHUMP00000030064;OTTHUMP00000030065;PTPLCA-related phosphatase;PTPase-alpha;protein tyrosine phosphatase, receptor type, alpha polypeptide;protein-tyrosine phosphatase alpha;receptor-type tyrosine-protein phosphatase alpha;tyrosine phosphatase alpha APPROVED protein-coding ENSG00000132670 HGNC:9664 01476 176884 REVIEWED 734202 PTPRF protein tyrosine phosphatase, receptor type, F The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] 1 1 1 p34 42278501 42371223 + 43991708 44089343 + 43526037 43623672 + 1625124;1580863;1642727;1642732;1642735;1642723;1642733;2293185;6480464;6907045;8554872;8699517 11309481;15150650;17347799;7666792;7711057;7769120;9218523 10079136;10187801;10320483;10338209;10365916;10395287;10660596;10777529;10822386;11121408;11158333;11245482;11931740;12095414;12176037;12376545;12477932;12496362;12629171;1321126;14702039;1486801;15231748;15491607;15588985;15896785;16335952;16478662;1695146;17259169;17419996;17803936;18925540;19199708;19910497;20139422;21139048;21697133;21875946;21890473;21906983;21963094;22959728;23000965;23986473;24470239;24781087;24797263;2554325;2972792;7558042;7665159;7796809;7929208;8524829;8621380;8643598;8732688;8917069;8995282;9245795;9295285;9624153;9647658 5792 A2A437;H0Y380;H0Y4H1;H0Y6Z7;H0Y7Z9;P10586 AB177856;AB177857;AB209478;AB621807;ABBA01050949;ABBA01050950;ABBA01050951;ABBA01050952;AC092815;AK023775;AK125325;AK127007;AK127475;AK301551;AL583862;AMYH02000903;AMYH02000904;AMYH02000905;BC012102;BC029466;BC048416;BC048768;BI711143;BX537361;CH471059;DQ234351;NM_002840;NM_130440;XM_005271079;XM_005271080;XM_005271081;XM_005271082;XM_006710795;XM_006710796;XM_006710797;XM_006710798;XM_006710799;XM_006710800;XM_006710801;Y00815 AAH48768;ABB29980;BAD66834;BAD66835;BAD92715;BAG54183;BAG54420;BAG54509;BAG63047;BAK64143;CAA68754;CAD97607;EAX07086;EAX07087;EAX07088;EAX07089;NP_002831;NP_569707;P10586;XP_005271136;XP_005271137;XP_005271138;XP_005271139;XP_006710858;XP_006710859;XP_006710860;XP_006710861;XP_006710862;XP_006710863;XP_006710864 Hs.272062 1729466;1778670;1788450;1798052;2117629;2162627;5022576;5037552;5118444 D11S3316;D1S1361;D1S154;D8S2279;PTPRF_1899;RH70959;SHGC-12681;SHGC-74668;fj50d02.y1 BNAH2;FLJ43335;FLJ45062;FLJ45567;LAR LCA-homolog;OTTHUMP00000008683;OTTHUMP00000008684;OTTHUMP00000008687;OTTHUMP00000008688;OTTHUMP00000192913;OTTHUMP00000192914;leukocyte antigen-related (LAR) PTP receptor;leukocyte antigen-related tyrosine phosphatase;leukocyte common antigen related;protein tyrosine phosphatase, receptor type, F polypeptide;receptor-linked protein-tyrosine phosphatase LAR;receptor-type tyrosine-protein phosphatase F APPROVED protein-coding ENSG00000142949 HGNC:9670 01552 179590;616001 REVIEWED 1345629 PTPRH protein tyrosine phosphatase, receptor type, H The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 19 19 19 q13.4 52733808 52762437 - 55692615 55720874 - 55181247 55209506 - 1580863;6480464;8554872 11278335;11435690;12101188;12477932;12837766;12879010;12907755;14702039;18029348;20706999;8294459 5794 Q9HD43 AA573849;ABBA01068115;ABBA01068116;ABBA01068117;ABBA01068118;ABBA01068119;AC010327;AF275131;AK097257;AMYH02036455;AMYH02036456;BC111715;BC111716;CH471135;D15049;KF456611;NM_001161440;NM_002842;XM_006723312 AAF91411;AAI11716;AAI11717;BAA03645;EAW72348;NP_001154912;NP_002833;Q9HD43;XP_006723375 Hs.179770 1774567;2154822 D19S1081;STS-D15049 FLJ39938;MGC133058;MGC133059;SAP1 R-PTP-H;receptor-type tyrosine-protein phosphatase H;stomach cancer-associated protein tyrosine phosphatase 1;transmembrane-type protein-tyrosine phosphatase type H APPROVED protein-coding ENSG00000080031 HGNC:9672 03942 602510 VALIDATED 1354114 PTPRK protein tyrosine phosphatase, receptor type, K The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008] 6 6 6 q22.2-q22.3 129032183 129588206 - 128289924 128841870 - 127968779 128520725 - 1580863;6480464;8554872 11710941;12477932;12794170;14718574;15383276;15899872;16169070;16263724;16344560;16672235;16849327;17573772;17720884;18276111;19167335;19236842;19800317;19864455;19911372;20068591;20190752;20379614;21094132;21139048;21833088;21900206;21988832;23552869;23696788;23820479;24002526;7782276;8264577;8663237;8941358;9047348;9722959 5796 B4DHC3;E9PGC5;E9PMV4;E9PRW2;H0Y6P5;H0Y6V4;H0YD44;H0YDP9;Q15262;Q59EZ1;Q5TG12;Q6P493;Q86WJ2 AB209670;ABBA01025921;ABBA01025922;ABBA01025923;ABBA01025924;ABBA01025925;AC212491;AF533875;AK295028;AL034349;AL035465;AL035470;AL035594;AL357621;AL451073;AL590006;AMYH02014457;AMYH02014458;AMYH02014459;BC063596;BC140775;BC144512;BC144513;BI755683;BQ018138;BX647498;CH471051;CR749277;DA790525;DB020920;EF139847;JA738769;JA738771;KF458278;KF458282;L77886;NM_001135648;NM_001291981;NM_001291982;NM_001291983;NM_001291984;NM_002844;XM_005267082;XM_005267085;XM_005267086;XM_006715535;XM_006715536;XM_006715537;XM_006715538;XM_006715539;XM_006715540;XM_006715541;XM_006725019;XM_006725020;XM_006725021;XM_006725022;XM_006725023;XM_006725024;XM_006725025;XM_006725026;XM_006725027;Z70660 AAC37599;AAH63596;AAI40776;AAI44513;AAI44514;AAO49502;BAD92907;BAG58084;CAA94519;CAH18132;CCF77037;CCF77038;EAW48084;EAW48085;EAW48086;EAW48087;EAW48088;EAW48089;NP_001129120;NP_001278910;NP_001278911;NP_001278912;NP_001278913;NP_002835;Q15262;XP_005267139;XP_005267142;XP_005267143;XP_006715598;XP_006715599;XP_006715600;XP_006715601;XP_006715602;XP_006715603;XP_006715604;XP_006725082;XP_006725083;XP_006725084;XP_006725085;XP_006725086;XP_006725087;XP_006725088;XP_006725089;XP_006725090 Hs.155919 1336293;1336943;1340127;1666296;1666883;1675070;1682946;1690017;1693328;1693330;1697422;1698150;1699400;1751667;1758895;1787550;1849061;2135876;2140657;2140659;2149856;2166928;2171205;2182059;5092976;7183182;7186159 A009D21;AL034437;AL034438;D6S1030;D6S1033;D6S1436;D6S1690;D6S407;G32446;RH102211;RH102608;RH103291;RH15838;RH36399;RH46580;RH48378;RH65472;RH79697;SHGC-105646;SHGC-155674;SHGC-1830;SHGC-24342;STS-T79596;WI-18631;WI-21653 DKFZp686C2268;DKFZp779N1045;R-PTP-kappa OTTHUMP00000017180;OTTHUMP00000017181;OTTHUMP00000017182;OTTHUMP00000233054;OTTHUMP00000233055;OTTHUMP00000233080;dJ480J14.2.1 (protein tyrosine phosphatase, receptor type, K (R-PTP-KAPPA, protein tyrosine phosphatase kappa , protein tyrosine phosphatase kappa;protein-tyrosine phosphatase kappa;protein-tyrosine phosphatase, receptor type, kappa;receptor-type tyrosine-protein phosphatase kappa APPROVED protein-coding ENSG00000152894 HGNC:9674 03968 602545 VALIDATED 1314242 PTPRB protein tyrosine phosphatase, receptor type, B The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 12 12 12 q15-q21 70574292 70694892 - 70910630 71031220 - 70516850 70637440 - 1580863;6480464;8554872 10557082;10706604;10769382;11313993;12068634;12234928;12477932;12615970;12700241;12840032;12907755;1373652;14702039;1486802;15144186;15638728;16101282;16344560;1645282;17081983;17549794;18361428;19116766;19136612;19167335;19451274;20201926;20301196;20379614;2169617;2170109;22275360;24451369;24633157;7575486;7628014;9049255;9118959;9263011;9584610 5787 F8VSD5;F8VU56;H0YHE8;J3QT52;P23467;Q6ZR19;Q86VA4 ABBA01026521;ABBA01026522;AC025569;AC083809;AK023720;AK096717;AK097371;AK126121;AK128562;AMYH02026725;AMYH02026726;BC051329;BC101679;BC113463;BC143356;BC143360;BE042873;BX647238;BX648245;BX648771;CH471054;CR749546;DA883934;DN999550;JA738569;JA738571;NG_029940;NM_001109754;NM_001206971;NM_001206972;NM_002837;X54131;XM_006719528;XM_006719529;XM_006719530;XR_245948;XR_245949 AAH51329;AAI01680;AAI13464;AAI43357;AAI43361;BAC86450;BAC87502;CAA38066;CAE46198;CAH10386;CAH18347;CCF76937;CCF76938;EAW97253;EAW97254;NP_001103224;NP_001193900;NP_001193901;NP_002828;P23467;XP_006719591;XP_006719592;XP_006719593 Hs.434375 1339744;1669062;1691128;1716659;1739703;1756961;1759343;2107537;2131181;2144846;2151382;2171585;2175469;5024756 A008P13;D12S1043;D12S1493;D12S1722;G17666;PTPRB_7863;RH121587;RH44716;RH80030;RH92659;SGC33710;SHGC-144132;SHGC-150877;SHGC-31640 DKFZp686E2262;DKFZp686H15164;FLJ44133;HPTP-BETA;HPTPB;MGC142023;MGC59935;PTPB;R-PTP-BETA;VE-PTP;VEPTP OTTHUMP00000241328;OTTHUMP00000241329;OTTHUMP00000241330;OTTHUMP00000241331;OTTHUMP00000241332;protein tyrosine phosphatase, receptor type, beta polypeptide;protein-tyrosine phosphatase beta;receptor-type tyrosine-protein phosphatase beta;vascular endothelial protein tyrosine phosphatase APPROVED protein-coding ENSG00000127329 HGNC:9665 01474 176882 REVIEWED 736433 PTPRJ protein tyrosine phosphatase, receptor type, J The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48154504 48344533 + 48002101 48192394 + 47980558 48170842 + 1357414;1580863;1641809;2317988;6480464;6484113;7240710;8699517;8554872 15710778;16829981;17021051 10473595;10599888;10648410;10821867;10914487;11259588;12062403;12089527;12370829;12403354;12475979;12477932;12685844;12913111;14709717;15123617;15231692;15378013;15384144;16000320;16335952;16582570;16682945;16778204;18029348;18348712;18603590;18843023;18854154;18936167;19056867;19122201;19124506;19167335;19332538;19413345;19494114;19672627;19836242;19922411;20379614;20823296;20881960;21036128;21091576;21262971;21304107;21502573;21543337;21706016;21813734;21987572;22076464;22268729;22308318;22438257;22564856;22677127;22815804;23000965;23341091;23563607;23650535;24016860;24027763;24357727;7937872;7994032;9115287;9531590;9759839;9780142 5795 E9PJ83;E9PPH3;Q12913;Q9NPR5 ABBA01060680;ABBA01060681;ABBA01060682;ABBA01060683;ABBA01060684;ABBA01060685;ABBA01060686;AC026975;AC103828;AI218139;AL359057;AMYH02024746;AMYH02024747;AMYH02024748;AMYH02024749;AMYH02024750;AMYH02024751;AMYH02024752;AMYH02024753;AMYH02024754;AMYH02024755;BC019824;BC063417;BC098447;CH471064;D37781;DR007037;NG_012209;NM_001098503;NM_002843;U10886;XM_006718269 AAB36687;AAH63417;AAI60125;BAA07035;CAB94390;EAW67873;EAW67874;EAW67875;EAW67876;NP_001091973;NP_002834;Q12913;XP_006718332 Hs.318547 1341775;1342159;1645133;1659559;1682089;1684676;1689538;1792466;1798054;2118691;2121634;2132660;2135761;5116950 D11S1225;D11S1350;D11S1784;D11S4544;D11S4682;PMC151692P1;PTPRJ_2541;RH17993;RH45248;RH79671;SHGC-17236;SHGC-34210;WI-18182;ha1563 CD148;DEP-1;DEP1;HPTP eta;R-PTP-ETA;R-PTP-J;SCC1 CD148 antigen;HPTPeta;OTTHUMP00000233525;OTTHUMP00000233526;density-enhanced phosphatase 1;human density enhanced phosphatase-1;protein tyrosine phosphatase, receptor type, J polypeptide;protein-tyrosine phosphatase eta;protein-tyrosine phosphatase receptor type J;receptor-type tyrosine-protein phosphatase eta;susceptibility to colon cancer 1, mouse, homolog of APPROVED protein-coding ENSG00000149177 HGNC:9673 02955 114500;600925 REVIEWED 1347501 PTPRM protein tyrosine phosphatase, receptor type, M The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008] 18 18 18 p11.2 7451391 8291215 + 7567314 8406859 + 7567302 8406861 + 1580863;6480464;8554872 10094839;10753936;10777529;10809770;11278757;11801604;12376545;12477932;12895029;14623235;15080886;15491993;15588985;15706045;16335952;16380380;1655529;17276081;17761881;17965016;18566238;18773424;19167335;19304959;19690139;19913121;20201926;20379614;20628086;20659327;21546767;21649524;21743492;22505657;23185569;7642713;7782276;7961788;8393854;8394372;8404049;8620001;9346878;9531566;9624153 5797 E7EPS8;F8WA38;J3KRV2;J3KT55;J3QLI4;J3QRB4;P28827 AA281524;ABBA01049918;ABBA01049919;ABBA01049920;ABBA01049921;ABBA01049922;ABBA01049923;ABBA01049924;ABBA01049925;ABBA01049926;ABBA01049927;ABBA01049928;ABBA01049929;ABBA01049930;ABBA01049931;ABBA01049932;ABBA01049933;AC006566;AK294492;AK303652;AMYH02034271;AMYH02034272;AMYH02034273;AMYH02034274;AMYH02034275;AMYH02034276;AMYH02034277;AMYH02034278;AP000897;AP001091;AP001094;AP005118;AP005227;AP005900;BC040543;BC051651;BC151842;BF725297;BQ926672;CH471113;DC381904;KC877688;KF456345;KF456352;NM_001105244;NM_002845;X58288;XM_006722335;XM_006722336;XM_006722337;XM_006722338;XR_430046 AAH40543;AAH51651;AAI51843;BAG57714;BAG64655;CAA41226;EAX01620;EAX01621;EAX01622;EAX01623;EAX01624;NP_001098714;NP_002836;P28827;XP_006722398;XP_006722399;XP_006722400;XP_006722401 Hs.49774 1655375;1656807;1676766;1690089;1696108;1698032;1698564;1701520;1715361;1717059;1718973;1720895;1734570;1752555;1752781;2115531;2115766;2121061;2123776;2131472;2135890;2141893;2168001;2170316;2182490;2183682;5095352;5126326 A008J20;D18S1252;D18S1317;D18S906E;D18S933E;D18S952;G10607;G59276;PTPRM;RH102547;RH102834;RH104393;RH120512;RH121446;RH123195;RH46332;RH46357;SHGC-106472;SHGC-106625;SHGC-52460;SHGC-56629;SHGC-58168;SHGC-78938;STS-AA002088;STS-H94257;STS-T89170;WI-16948;WI-9017 MGC166994;PTPRL1;R-PTP-MU;RPTPM;RPTPU;hR-PTPu OTTHUMP00000162329;protein tyrosine phosphatase mu;protein tyrosine phosphatase, receptor type, mu polypeptide;protein-tyrosine phosphatase mu;receptor-type tyrosine-protein phosphatase mu APPROVED protein-coding ENSG00000173482 HGNC:9675 01479 176888 REVIEWED 735532 PTPRG protein tyrosine phosphatase, receptor type, G The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008] 3 3 3 p21-p14 61560149 62297663 + 61547243 62280573 + 61561569 62297609 + 1580863;6480464;8554872 10376795;10521598;11859871;12477932;12553013;14676845;15897551;16335952;1711217;17963294;18646686;18829573;19167335;19567891;20031603;20125088;20133774;20201926;20379614;20651337;20825314;20959494;21150880;2169617;2170109;21795790;21906983;21926974;22747683;23000965;23319000;24496747;7683956;8382771;8833149;9624153 5793 P23470;Q49A02 AB209871;ABBA01024329;ABBA01024330;ABBA01024331;ABBA01024332;ABBA01024333;ABBA01024334;ABBA01024335;ABBA01024336;ABBA01024337;ABBA01024338;ABBA01024339;ABBA01024340;ABBA01024341;AC004695;AC092502;AC096919;AC098482;AC103587;AC103921;AC104849;AC105939;AI872451;AK296327;AMYH02006921;AMYH02006922;AMYH02006923;AMYH02006924;AMYH02006925;AMYH02006926;AMYH02006927;AMYH02006928;BC036018;BC047734;BC048961;BC140904;BC144110;CH471055;CR749269;EU273472;KF510247;L09247;NM_002841;U46089;U46116;X54132;XM_005265352;XM_005265353 AAA60224;AAC16478;AAC50439;AAH36018;AAH47734;AAH48961;AAI40905;AAI44111;ABX60133;BAD93108;BAH12317;CAA38067;CAH18125;EAW65397;NP_002832;P23470;XP_005265409;XP_005265410 Hs.595541 1339073;1648182;1651648;1665033;1665182;1668073;1670925;1681939;1693516;1701102;1706374;1710468;1718711;1727553;1730765;1784860;1784896;2111866;2111922;2111924;2111926;2112550;2115731;2115733;2117158;2132730;2139292;2143825;2158541;2161473;2164714;2164803;2176804;2178739;2181391;2183449;2185299;2185331 D2S208E;D3S1239;D3S3448;D3S3934;D3S4003;D3S4021;D3S4045;D3S4048;D3S4059;D3S4073;D3S4099;D3S4100;D3S4101;D3S4211;D3S4334;G29177;G31070;G63034;RH104179;RH11441;RH12127;RH123043;RH67912;RH70195;SGC34642;SHGC-156251;SHGC-32613;SHGC-56789;SHGC-58561;SHGC-77036;SHGC-77046;SHGC-77060;SHGC-77063;SHGC-79619;SHGC-80756;SHGC-86248;STS-T47142;STS-T78588 HPTPG;PTPG;R-PTP-GAMMA;RPTPG H_RG317H01.1;OTTHUMP00000213232;OTTHUMP00000213233;protein tyrosine phosphatase gamma;protein tyrosine phosphatase, receptor type, gamma polypeptide;protein-tyrosine phosphatase gamma;receptor type protein tyrosine phosphatase gamma;receptor tyrosine phosphatase gamma;receptor-type protein phosphatase gamma;receptor-type tyrosine-protein phosphatase gamma APPROVED protein-coding ENSG00000144724 HGNC:9671 01478 176886 REVIEWED 1345897 PTPRQ protein tyrosine phosphatase, receptor type, Q This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014] 12 12 12 q21.2 80503778 80740182 + 80838126 81073968 + 80444346 80680189 + 1580863;6480464;7240710;8547669;8699517;8554872 20624897 12802008;12837292;16341674;16344560;19351528;19888295;20301607;20346435;20379614;20472657;23897475;9727007 374462 F8VW52;F8VXI2;F8W122;H0YIJ5;Q9UMZ3 ABBA01053491;ABBA01053492;ABBA01053493;ABBA01053494;ABBA01053495;ABBA01053496;AC074031;AC083812;AF169351;AMYH02026825;AMYH02026826;AMYH02026827;AMYH02026828;BM750287;DA545412;DB305536;DB318211;DB341961;DN831929;DV080144;DV080238;DV080465;DV080607;DV080649;DV080650;DV080661;DW009832;DW009898;DW009906;DY655367;EG327664;NG_034052;NM_001145026 AAD50277;NP_001138498;Q9UMZ3 Hs.539284 1686642;1708544;1733668;2134620 D12S1813;D15S639E;RH91909;SHGC-85051 DFNB84;DFNB84A;PTP-RQ;PTPGMC1;R-PTP-Q OTTHUMP00000229692;phosphatidylinositol phosphatase PTPRQ;phosphotidylinositol phosphatase PTPRQ;protein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells;receptor-type tyrosine-protein phosphatase Q APPROVED protein-coding ENSG00000139304 HGNC:9679 603317;613391 REVIEWED 731757 PTPRO protein tyrosine phosphatase, receptor type, O This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011] 12 12 12 p13.3-p13.2 20620432 20895225 + 15475191 15751265 + 15322257 15598331 + 1580863;6480464;8699517;7240710;8554872 10397721;10498613;11238916;11368509;12477932;12949066;15356345;15803146;16169070;16344560;16888096;17545520;17593862;18342392;18644370;18997174;19056867;19095770;19167335;19233845;19573017;19834535;19855081;19913121;20379614;20564182;20628086;20633639;21722858;21832049;21900206;22001392;22099875;22126837;22851698;23533167;24090193;24128416;7665166;7753550;9263011 5800 H0YH11;H0YH60;Q16827 AB209729;ABBA01067890;ABBA01067891;ABBA01067892;AC007542;AC022334;AC092183;AF152378;AF187042;AF187043;AF187044;AK289784;AK290982;AK299529;AMYH02026098;AMYH02026099;AMYH02026100;AMYH02026101;AMYH02026102;BC035960;BC126201;BC126203;CH471094;DA165109;DC358516;DR000351;NG_031857;NM_002848;NM_030667;NM_030668;NM_030669;NM_030670;NM_030671;U20489;Z48541 AAA82892;AAD55680;AAF04085;AAF04086;AAF04087;AAH35960;AAI26202;AAI26204;BAD92966;BAF82473;BAF83671;BAG61478;CAA88425;EAW96348;EAW96349;EAW96350;EAW96351;EAW96352;EAW96353;NP_002839;NP_109592;NP_109593;NP_109594;NP_109595;NP_109596;Q16827 Hs.160871 1335795;1725949;1725959;1725965;1740049;1750789;1782780;1857061;2155754;2217874;5016518 A007I29;D12S1303;D12S1571;G62268;G62271;G62341;GDB:591927;PTPRO_1364;SHGC-103008;SHGC-31637;SHGC-68526 GLEPP1;NPHS6;PTP-U2;PTP-oc;PTPROT;PTPU2;R-PTP-O OTTHUMP00000239456;OTTHUMP00000239458;OTTHUMP00000239459;OTTHUMP00000239460;OTTHUMP00000239461;OTTHUMP00000239462;PTP phi;PTPase U2;glomerular epithelial protein 1;glomerular epithelial protein-1;osteoclastic transmembrane protein-tyrosine phosphatase;phosphotyrosine phosphatase U2;protein tyrosine phosphatase PTP-U2;protein tyrosine phosphatase U2;receptor-type protein tyrosine phosphatase O;receptor-type tyrosine-protein phosphatase O APPROVED protein-coding ENSG00000151490 HGNC:9678 02784 600579;614196 REVIEWED 1348083 PTPRD protein tyrosine phosphatase, receptor type, D The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010] 9 9 9 p23-p24.3 8248560 10545456 - 8314246 10612723 - 8314246 10612723 - 1580863;6480464;8554872 10777529;12376545;12477932;12570871;14759258;16114034;17420988;18050303;18414509;18519826;18660810;18951430;19240061;19478061;19500277;19525478;19913121;19921088;20073072;20139422;20174558;20200953;20201926;20379614;20522523;20526338;20628086;20808825;20816195;21213369;21264940;21493956;21647700;2170109;21767287;21779176;21926414;21963094;22052591;22305495;22571343;22832960;22837378;23049088;23069849;23147557;23251661;23362303;23404381;23793025;23800680;23903073;23962720;23991058;24047446;24324551;24843164;7665159;7896816;8355697;8524829;8889548;9566880;9624153 5789 C9J6E4;C9J8S8;F5GWR7;F5GWY7;P23468;Q2HXI4;Q3KPI9;Q59H90 AB208869;AB211400;ABBA01065347;ABBA01065348;ABBA01065349;ABBA01065350;ABBA01065351;ABBA01065352;ABBA01065353;ABBA01065354;ABBA01065355;ABBA01065356;ABBA01065357;ABBA01065358;ABBA01065359;ABBA01065360;ABBA01065361;ABBA01065362;ABBA01065363;ABBA01065364;AK296392;AL133479;AL135790;AL137069;AL137125;AL137851;AL157826;AL353638;AL353733;AL354722;AL356054;AL356584;AL390723;AL391864;AL441884;AL445926;AL451130;AL513422;AL583805;AL590307;AL590397;AL591133;AL591622;AL596451;AL669908;AMYH02019126;AMYH02019127;AMYH02019128;AMYH02019129;AMYH02019130;AMYH02019131;AMYH02019132;AMYH02019133;AMYH02019134;AMYH02019135;AMYH02019136;AMYH02019137;AMYH02019138;AMYH02019139;AMYH02019140;AMYH02019141;AMYH02019142;AMYH02019143;AMYH02019144;AMYH02019145;AMYH02019146;AMYH02019147;AMYH02019148;AMYH02019149;AMYH02019150;AMYH02019151;AMYH02019152;AMYH02019153;AMYH02019154;AMYH02019155;AMYH02019156;AMYH02019157;BC028038;BC037801;BC045786;BC106713;BC106714;BC106715;BC106716;BM680342;CH471071;DR001889;KF458903;L38929;NG_033963;NM_001040712;NM_001171025;NM_002839;NM_130391;NM_130392;NM_130393;X54133;XM_006716813;XM_006716814;XM_006716815;XM_006716816;XM_006716817;XM_006716818;XM_006716819;XM_006716820;XM_006716821;XM_006716822;XM_006716823;XM_006716824;XM_006716825;XM_006716826;XM_006716827;XM_006716828;XM_006716829;XM_006716830;XM_006716831;XM_006716832;XM_006716833;XM_006716834;XM_006716835;XM_006716836;XM_006716837;XM_006716838;XM_006716839 AAC41749;AAI06714;AAI06715;AAI06716;AAI06717;BAD92106;BAE79816;BAG59060;CAA38068;EAW58718;EAW58719;EAW58720;EAW58721;EAW58722;EAW58723;EAW58724;NP_001035802;NP_001164496;NP_002830;NP_569075;NP_569076;NP_569077;P23468;XP_006716876;XP_006716877;XP_006716878;XP_006716879;XP_006716880;XP_006716881;XP_006716882;XP_006716883;XP_006716884;XP_006716885;XP_006716886;XP_006716887;XP_006716888;XP_006716889;XP_006716890;XP_006716891;XP_006716892;XP_006716893;XP_006716894;XP_006716895;XP_006716896;XP_006716897;XP_006716898;XP_006716899;XP_006716900;XP_006716901;XP_006716902 Hs.446083 1339170;1339223;1339322;1340080;1341896;1646641;1646680;1650558;1652660;1653466;1657632;1668705;1672377;1675283;1679219;1682103;1688540;1695244;1696060;1701648;1703418;1704338;1704384;1704626;1706026;1707408;1708468;1713151;1714381;1717863;1718857;1719579;1720129;1721675;1722177;1723831;1725311;1730357;1735902;1739373;1748817;1752917;1752933;1754019;1754987;1758387;1765821;1766501;1768977;1769623;1770707;1774838;1778961;1787082;1847067;2114050;2114512;2120297;2143672;2153164;2172984;2177734;2185374;5016021;5017837;5021285;5093122;5094314;5095350;5117590;5117592;5117594;7185090 A003M12;A004N43;A009G40;AB063044;AFM275yb9;CHLC.GATA84D07;D16S2634;D9S1044E;D9S1132;D9S144;D9S1658E;D9S1676;D9S168;D9S193E;D9S2000;D9S775;D9S912;D9S921;FCA1266;G17324;G31002;G32533;G54705;G59849;G60140;GATA187D09;GDB:582179;GDB:582183;GDB:582186;L18408;LEX063;PTPRD;RH104468;RH118651;RH118973;RH120181;RH120363;RH122763;RH123132;RH123693;RH123842;RH46233;RH47322;RH80157;RH92488;SGC35386;SHGC-106805;SHGC-106846;SHGC-110451;SHGC-11668;SHGC-132060;SHGC-141931;SHGC-148223;SHGC-149248;SHGC-149821;SHGC-154932;SHGC-57512;SHGC-62953;SHGC-68795;SHGC-77892;SHGC-78136;SHGC-78649;SHGC-79710;SHGC-83223;SHGC-84491;SHGC-85022;WI-10695;WI-13888;WI-14734;WI-15507;WI-22174;WIAF-1582 HPTP;HPTP-DELTA;HPTPD;HPTPDELTA;MGC119750;MGC119751;MGC119752;MGC119753;PTPD;R-PTP-DELTA;RPTPDELTA OTTHUMP00000022727;OTTHUMP00000215416;OTTHUMP00000215419;protein tyrosine phosphatase, receptor type, delta polypeptide;protein-tyrosine phosphatase delta;receptor-type tyrosine-protein phosphatase delta APPROVED protein-coding ENSG00000153707 HGNC:9668 03358 601598 REVIEWED 1602650 PTPRVP protein tyrosine phosphatase, receptor type, V, pseudogene INTERACTS WITH cocaine (ortholog); dibutyl phthalate (ortholog); leflunomide (ortholog) 1 1 1 q32.1 175261036 175282499 + 202137179 202158577 + 202168051 202189449 + 6480464 15358244;17360168;17693256;20210993 148713 ABBA01027508;ABBA01027509;AJ629456;AL356953;AL592300;AMYH02002492;AMYH02002493;AMYH02002494;AY819761;AY819762;AY819763;NR_002930 Hs.523870 1724141;1762821 RH121205;SHGC-146598 ESP;OST-PTP;PTPRV APPROVED pseudo ENSG00000243323 HGNC:13421 VALIDATED 1353626 PTPRU protein tyrosine phosphatase, receptor type, U The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010] 1 1 1 p35.3 27959180 28049910 + 29563028 29653325 + 29236516 29326813 + 1580863;1642652;1642654;1642656;6480464;8554872 11086029;16539708;17457373 10196137;10395944;10397721;11781100;12477932;12501215;14702039;15146197;16298104;16564554;16574648;17622474;18854154;18951430;19528353;20379614;20889312;21139048;21906983;22219177;23535911;8700514;8870675;8889548;9054423;9070223;9305862;9434160;9624153 10076 Q92729 AB208855;ABBA01035082;ABBA01035083;ABBA01035084;ABBA01035085;AK094849;AL049570;AL590729;AL645859;AMYH02000645;AMYH02000646;AMYH02000647;AMYH02000648;BC033131;BC146655;BM799833;BU687539;CH471059;CN410555;NG_033965;NM_001195001;NM_005704;NM_133177;NM_133178;U60289;U71075;U73727;X95712;X97198;XM_006710269;XM_006710270;XM_006710271;XM_006710272;XM_006710273 AAB07074;AAB51343;AAC51938;AAI46656;BAD92092;BAG52941;CAA65016;CAA65832;EAX07650;EAX07651;EAX07652;NP_001181930;NP_005695;NP_573438;NP_573439;Q92729;XP_006710332;XP_006710333;XP_006710334;XP_006710335;XP_006710336 Hs.19718 1712026;1713491;1727971;1733132;1779005;1779007;1798056;1849410;2159034 A002C06;D1S1447;D1S2653;G19916;G63405;HSC05H092;PTPRU_2553;RH118710;RH120229 FLJ37530;FMI;GLEPP1;PCP-2;PTP;PTP pi;PTP-J;PTP-PI;PTP-RO;PTPPSI;PTPRO;PTPU2;R-PTP-PSI;R-PTP-U;hPTP-J;pi R-PTP-Psi OTTHUMP00000003801;OTTHUMP00000003802;OTTHUMP00000234791;OTTHUMP00000234792;Receptor protein tyrosine phosphatase hPTP-J;pancreatic carcinoma phosphatase 2;protein tyrosine phosphatase J;protein tyrosine phosphatase receptor omicron;protein-tyrosine phosphatase J;protein-tyrosine phosphatase pi;protein-tyrosine phosphatase receptor omicron;receptor-type protein-tyrosine phosphatase psi;receptor-type tyrosine-protein phosphatase U APPROVED protein-coding ENSG00000060656 HGNC:9683 03908 602454 REVIEWED 1349626 PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. The catalytic domain of this PTP is most closely related to PTPRN/IA-2beta. This PTP and PTPRN are both found to be major autoantigens associated with insulin-dependent diabetes mellitus. Three alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] 7 7 7 q36 151758421 152708128 - 157331750 158380482 - 157539056 158587796 - 1580863;2311682;2311683;2311684;6480464;6907045;8554872 12419281;15004204;18193190 11086001;12421765;12477932;15220191;15489334;16713569;17474147;18029348;18398821;18854154;19361477;19724895;19851296;19913121;20198315;20201926;20379614;20628086;21057379;22950449;22952603;23049088;23251661;8024693;8798755;8878534;8889548;8954911;9205841;9220540;9754810;9858807 5799 E7EM83;Q92932 AB002385;ABBA01032320;ABBA01032321;ABBA01032322;ABBA01032323;ABBA01032324;ABBA01032325;ABBA01032326;ABBA01032327;ABBA01032328;ABBA01032329;ABBA01032330;ABBA01032331;ABBA01032332;ABBA01032333;ABBA01032334;ABBA01032335;ABBA01032336;ABBA01032337;ABBA01032338;ABBA01032339;ABBA01032340;ABBA01032341;ABBA01032342;ABBA01032343;ABBA01032344;ABBA01032345;ABBA01032346;ABBA01032347;ABBA01032348;AC005481;AC006003;AC006372;AC011899;AC019043;AC078942;AC093662;AC093856;AC125243;AF007555;AL157451;AMYH02017160;AMYH02017161;AMYH02017162;AMYH02017163;AMYH02017164;AMYH02017165;AMYH02017166;AMYH02017167;AMYH02017168;AMYH02017169;AMYH02017170;AMYH02017171;AMYH02017172;AMYH02017173;AMYH02017174;AMYH02017175;AMYH02017176;AMYH02017177;AMYH02017178;AMYH02017179;BC034040;BC071570;CB850986;CH236954;CH471149;DB498958;KF458646;KF458649;KF458651;KF510998;KF510999;NG_029966;NM_002847;NM_130842;NM_130843;U65065;U66702;U81561;XM_006716075 AAB63600;AAB68603;AAC50742;AAC51643;AAH34040;AAH71570;ABM83325;ABW03315;BAA20841;CAB75665;EAX04577;EAX04578;NP_002838;NP_570857;NP_570858;Q92932;XP_006716138 Hs.490789 1337752;1646933;1652792;1655284;1655286;1687047;1709430;1714089;1757071;1757417;1758119;1760383;1763641;1772663;1778139;1786280;1789500;1796598;1848575;1849055;1850103;1855400;1856726;2122208;2122284;2137217;2139643;2140576;2149402;2151903;2153133;2154885;2167359;2178764;2180446;2186013;2187347;7183803 A001W14;D7S1476;D7S1759;D7S22;D7S2423;D7S3168;D7S467;D7S54;D7S98;G17166;G19707;G20053;GDB:1317804;GDB:1317982;GDB:4584949;GDB:4584967;GDB:4585135;GDB:4585269;GDB:4585294;GDB:4585471;GDB:4585755;PTPRN2_240;RH119650;RH12041;RH47765;RH65458;RH93077;SHGC-142152;SHGC-144451;SHGC-144805;SHGC-147330;SHGC-147446;SHGC-148672;SHGC-53826;SHGC-81751;UniSTS:17906;WI-19502 IA-2beta;IAR;PTPRP;R-PTP-N2 IAR/receptor-like protein-tyrosine phosphatase;ICAAR;OTTHUMP00000202113;OTTHUMP00000202114;OTTHUMP00000214027;OTTHUMP00000214028;islet cell autoantigen-related protein;phogrin;protein tyrosine phosphatase receptor pi;receptor-type tyrosine-protein phosphatase N2;tyrosine phosphatase IA-2 beta APPROVED protein-coding ENSG00000155093 HGNC:9677 03413 601698 REVIEWED 1348911 PTPRZ2 protein tyrosine phosphatase, receptor-type, Z polypeptide 2 1580863 1323835;9653645 5804 O76043 HGNC:9686 604008 731607 PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] 7 7 7 q31.3 116322385 116511311 + 121513159 121702090 + 121873105 122062036 + 1580863;6480464;7240710;8554872 10212223;10521598;10706604;11381105;11520897;11707406;12355066;12477932;12690205;12700241;1323835;14555979;15523497;15797857;15833863;15908427;15925565;15998549;16105548;16335952;16338072;16344560;16513268;16814777;17030583;17098867;17368428;17579610;17681947;17706593;17727841;17823238;18003890;18186075;18713734;18838383;19058221;19141530;19167335;19604403;20133774;20201926;20224786;20738847;21454675;2169617;2170109;21890632;21969550;22682003;22832403;23060448;23100427;23170925;23226095;23588815;23744080;23777859;7736789;8387522;9441757;9507007;9653645;9847074 5803 B4DFE7;P23471 ABBA01057750;ABBA01057751;ABBA01057752;ABBA01057753;ABBA01057754;AC006020;AC006353;AC073095;AK294062;AMYH02016671;AMYH02016672;BC131736;CH236947;CH471070;CX868991;CX872418;DA101746;DA454064;M93426;NG_023266;NM_001206838;NM_001206839;NM_002851;U88967;X54135;XM_005250519;XM_006716076 AAA60225;AAC39934;AAF03527;AAI72407;BAG57408;CAA38070;EAL24344;EAW83560;EAW83561;EAW83562;EAW83563;NP_001193767;NP_001193768;NP_002842;P23471;XP_005250576;XP_006716139 Hs.489824 1656900;1659913;1665378;1678605;1718207;1718223;1768301;1798058;2111037;2138099;2187546 D7S2737;D7S466;D7S601E;PTPRZ;PTPRZ1_2426;RH122873;RH122881;RH26920;RH47696;SHGC-30278;SHGC-36248 HPTPZ;HPTPzeta;PTP-ZETA;PTP18;PTPRZ;PTPZ;R-PTP-zeta;R-PTP-zeta-2;RPTPB;RPTPbeta OTTHUMP00000211397;OTTHUMP00000211398;phosphacan;protein tyrosine phosphatase, receptor-type, zeta polypeptide 1;protein-tyrosine phosphatase receptor type Z polypeptide 1;protein-tyrosine phosphatase receptor type Z polypeptide 2;receptor-type tyrosine phosphatase beta/zeta;receptor-type tyrosine-protein phosphatase zeta APPROVED protein-coding ENSG00000106278 HGNC:9685 01481 176891;600263 REVIEWED 1320908 PTRH1 peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN metabolic process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; cyclosporin A; ethyl methanesulfonate 9 9 9 q34.11 101127119 101128828 - 130476227 130487152 - 127713948 127715998 - 6480464 12477932;14660562;14702039;15489334;18482256;20877624 138428 C9J7Z1;Q86Y79 ABBA01043840;AK090922;AL162426;AMYH02021694;AX418200;BC015230;BC047012;CH471090;HB905510;HC962919;NM_001002913;XM_006716955 AAH47012;ADR82643;CAD35436;CBF84778;CBV01429;EAW87685;EAW87686;NP_001002913;Q86Y79;XP_006717018 Hs.653265 1677476;5015961 D15S1477;RH92521 C9orf115;MGC51999;PTH;PTH1 OTTHUMP00000213243;OTTHUMP00000213244;chromosome 9 open reading frame 115;probable peptidyl-tRNA hydrolase protein-coding ENSG00000187024 HGNC:27039 12936 PROVISIONAL 1606864 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 ENCODES a protein that exhibits aminoacyl-tRNA hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; valproic acid; toluene (ortholog) 2 2 2 p23.3 24853469 24856584 - 25013136 25016251 - 24790267 24793382 - 6480464 12477932;17207965 391356 Q6GMV3 ABBA01045122;AC013459;AMYH02003423;BC073803;CH471053;NM_001013663 AAH73803;ADQ32058;EAX00745;NP_001013685;Q6GMV3 Hs.406607 1676280;1679950 RH94260;RH99049 C2orf79 OTTHUMP00000200875;hypothetical protein LOC391356;peptidyl-tRNA hydrolase domain-containing protein 1;putative peptidyl-tRNA hydrolase PTRHD1 APPROVED protein-coding HGNC:33782 18406 PROVISIONAL 1602115 PTRH2 peptidyl-tRNA hydrolase 2 ENCODES a protein that exhibits aminoacyl-tRNA hydrolase activity (inferred); INVOLVED IN negative regulation of anoikis; negative regulation of gene expression; positive regulation of anoikis; FOUND IN cytosol; membrane; mitochondrion; INTERACTS WITH 17beta-estradiol; arsenous acid; atrazine 17 17 17 q23.1 54238418 54248606 - 57774667 57784856 - 59697306 59707495 - 6480464 10810093;12477932;14660562;14702039;15006356;15489334;17511679;18029348;18703509;19578750;19946888;20877624;21139048;21383007;21886829;21890473;21906983;21963094;22939629;22952044;23000965;23248118;23259782;23955799;24583282 51651 J3KQ48;Q9Y3E5 ABBA01003171;ABBA01003172;AC091271;AC244499;AF151905;AK057033;AK098219;AL137322;BC006807;BC017457;BX647177;CH471109;NM_016077;XM_005257447 AAD34142;AAH06807;ACE86959;ACE87649;BAB71351;BAG53596;CAB70696;EAW94394;NP_057161;Q9Y3E5;XP_005257504 Hs.12677 1645023;1686080;2109101;2157850 Bit1_9746;D17S2149;RH93739;WI-20523 BIT1;CFAP37;CGI-147;FLJ32471;PTH 2;PTH2 OTTHUMP00000205935;OTTHUMP00000205936;bcl-2 inhibitor of transcription 1;cilia and flagella associated protein 37;peptidyl-tRNA hydrolase 2, mitochondrial protein-coding ENSG00000141378 HGNC:24265 12273 608625 VALIDATED 1317017 PTRF polymerase I and transcript release factor This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009] 17 17 17 q21.2 37209860 37230741 - 40554467 40575506 - 42402449 42423320 - 6480464;7240710;8699517;8554872 10727401;12477932;14702039;15242332;15489334;15592455;15951569;17026959;17081983;18781797;19068216;19322201;19726876;20300641;20360068;20427576;20684003;20732728;21102463;21139048;21150319;21152401;21343302;21445100;21683594;21705337;21890473;21906983;21913217;21963094;21987572;22461895;22937058;22939629;23000965;23214712;23402259;23404184;23770857;23824909;23934189;23938946;23956138;24654937;24812087;9582279 284119 B3KRY5;Q6NZI2 ABBA01006425;AC107993;AF000421;AF312393;AK000715;AK074512;AK092406;AK298072;AK298563;AK314389;AL050224;AMYH02033430;BC004295;BC008849;BC066123;BC073759;CH471152;KF456279;NG_015845;NM_012232;XM_005257242 AAC63404;AAG27093;AAH04295;AAH08849;AAH66123;AAH73759;BAG37014;BAG52547;BAG60361;BAG60757;EAW60828;NP_036364;Q6NZI2;XP_005257299 Hs.437191 1666527;2117411 SGC30365;STS-W93348 CGL4;FKSG13;FLJ90031 PTRF {ECO:0000312|EMBL:AAH66123.1};RNA polymerase I and transcript release factor;TTF-I interacting peptide 12;cavin;cavin-1;cavin1 APPROVED protein-coding ENSG00000177469 HGNC:9688 04433 603198;613327 REVIEWED 68525 PTS 6-pyruvoyltetrahydropterin synthase The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008] 11 11 11 q22.3 109250329 109257937 + 112097088 112104696 + 112226365 112233973 + 1580863;1601576;1300048;6480464;6907045;7240710;8554872;8699517 8178819 10220141;10531334;10608806;10727395;11076863;11256614;11438997;11591653;11744995;11916314;11937441;12477932;1282802;14551150;14729142;15197144;15489334;15489336;16086286;16135092;16169070;16189514;16381901;17270157;17407085;17590551;18505119;1883524;19060904;19167051;19350512;19360691;19491146;19674121;19830588;20877624;21890473;21906983;21963094;22237589;23000965;23184937;24250222;24337577;3308682;7493990;7698774;8188266;8216273;8707300;8841415;9159737;9222755;9222757;9450907 5805 E9PJM0;E9PKY8;E9PNN3;Q03393 AB042297;ABBA01039801;AK307133;AK310768;AMYH02025586;AP002884;BC009686;BC018029;CF529329;CH471065;D17400;D25234;EF445018;L76259;M97655;NG_008743;NM_000317;U63382;U63383 AAA51541;AAB64229;AAC16970;AAH09686;AAH18029;ABM81887;ABM85059;ACA06065;BAA04224;BAA04959;BAA95486;CAL37554;CAL38178;CAL38544;EAW67195;NP_000308;Q03393 Hs.503860 1775412;1855018;5117534;5117536 GDB:574088;GDB:574111;PTPS;SHGC-12504 FLJ97081;PTPS 6-pyruvoyl tetrahydrobiopterin synthase;6-pyruvoyl-tetrahydropterin synthase;OTTHUMP00000235385;PTP synthase APPROVED protein-coding ENSG00000150787 HGNC:9689 11840 261640;612719 REVIEWED 1348456 PTPRR protein tyrosine phosphatase, receptor type, R The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011] 12 12 12 q15 70695535 70977822 - 71031853 71314584 - 70638073 70920804 - 729789;1580863;6480464;6907045;8554872 7557444 10066421;10393441;10419510;10601328;10705342;11147789;11493009;12042304;12477932;12493773;14702039;16148006;16344560;16441242;16541075;18029348;19167335;20015382;20201926;20379614;22100128;22330137;23382691;23396134;23422819;7814416;7836467;9857190 5801 F8VU63;F8VVE9;Q15256;Q7Z2V8 ABBA01026518;ABBA01026519;ABBA01026520;ABBA01026521;AC083809;AC084877;AC090676;AC140066;AF263016;AK091647;AK295951;AK304457;AK304672;AK312376;AMYH02026726;AMYH02026727;AMYH02026728;AMYH02026729;AMYH02026730;BC072386;BC092469;BC110900;BC119777;BC122866;BX571751;CA435261;CH471054;CR749836;D64053;DA329806;DC304601;DC421975;NM_001207015;NM_001207016;NM_002849;NM_130846;NR_073474;U42361;U77916;U77917;X82635;Z79693 AAB54006;AAB54007;AAD09447;AAG47642;AAH92469;AAI10901;AAI19778;AAI22867;BAA10930;BAG35294;BAH12227;BAH14192;BAH14234;CAA57957;CAB01957;CAE11876;CAH18692;EAW97255;EAW97256;NP_001193944;NP_001193945;NP_002840;NP_570897;Q15256 Hs.506076 1739709;1746089;1756381;1761253;1763555;2129629;2162004;2171585;2174672;5113488;5122287 D12S1025;D12S1496;D12S2195;G64374;RH26818;RH44886;SHGC-143350;SHGC-145257;SHGC-147260;SHGC-31640;T03332 DKFZp781C1038;EC-PTP;FLJ34328;MGC131968;MGC148170;PCPTP1;PTP-SL;PTPBR7;PTPRQ Ch-1 PTPase;NC-PTPCOM1;OTTHUMP00000241361;OTTHUMP00000241363;OTTHUMP00000241364;OTTHUMP00000241365;R-PTP-R;ch-1PTPase;protein tyrosine phosphatase Cr1PTPase;protein-tyrosine phosphatase NC-PTPCOM1;protein-tyrosine phosphatase PCPTP1;receptor-type tyrosine-protein phosphatase R APPROVED protein-coding ENSG00000153233 HGNC:9680 04169 602853 REVIEWED 1314337 PTTG1IP pituitary tumor-transforming 1 interacting protein This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activation of basic fibroblast growth factor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013] 21 21 21 q22.3 31376467 31400666 - 46269500 46294487 - 44849585 44873903 - 1580863;6480464 10781616;10830953;12477932;12958169;14702039;15146197;15178645;15190888;15489334;16712791;17297475;19056867;19946888;21129230;21139048;21844185;21890473;21906983;21963094;21987572;21988832;22404099;22505724;22888961;23000965;23221562;23678037;24250222;24506068;25015289;9570958 754 A8MXQ1;A8MZH8;B4DPZ0;P53801 ABBA01074178;AF149785;AK094882;AK095586;AK290139;AK298557;AK299204;AK315626;AL163300;AL773603;AMYH02037920;AMYH02037921;BC000415;BC012858;BC019295;BC020983;BC031097;BC034250;BG721942;CB109980;CH471079;CN295711;DC396020;L48984;NG_033966;NM_001286822;NM_004339;NR_104597;Z50022 AAF73770;AAH00415;AAH12858;AAH19295;AAH20983;AAH31097;AAH34250;ABM82698;ABM85882;BAF82828;BAG37994;BAG60752;BAG61244;CAA90325;CAB90552;EAX09386;EAX09387;EAX09388;NP_001273751;NP_004330;P53801 Hs.474010 1730875;1733434;1793956;1856177;2131025;2145069;2187263;5037552;5121096;5123923 D17S1287;D21S401;D8S2279;G31032;PMC310701P5;RH77710;RH77865;SHGC-51796;SHGC-52035;WI-11321 C21orf1;C21orf3;PBF OTTHUMP00000115272;OTTHUMP00000115273;PTTG-binding factor;pituitary tumor-transforming gene 1 protein-interacting protein;pituitary tumor-transforming gene protein-binding factor APPROVED protein-coding ENSG00000183255 HGNC:13524 04807 603784 REVIEWED 1315534 PTTG2 pituitary tumor-transforming 2 ENCODES a protein that exhibits SH3 domain binding (inferred); INVOLVED IN chromosome organization (inferred); PARTICIPATES IN cell cycle pathway, mitotic; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; calcitriol; copper(2+) sulfate 4 4 4 p12 38402353 38402928 + 37962056 37962631 + 37960435 37961010 + 1580863;6480464;6907045;8554872 10084610;10806349;12477932;18029348;21832049;22699663;23470537 10744 Q9NZH5 ABBA01074316;AC021106;AF095288;AF116538;AF200719;AMYH02009032;BC069114;BC069400;NM_006607 AAC64410;AAD41262;AAF72579;AAH69114;AAH69400;NP_006598;Q9NZH5 Hs.668806 1725193;1767813;2109711;5492593 PTTG2_3222;RH124070;RH35896;UniSTS:481730 OTTHUMP00000218176;pituitary tumor-transforming gene 2 protein;securin-2 protein-coding ENSG00000250254 HGNC:9691 09176 604231 VALIDATED 1351902 PTTG3P pituitary tumor-transforming 3, pseudogene ENCODES a protein that exhibits SH3 domain binding (inferred); INVOLVED IN chromosome organization (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; 5-fluorouracil 8 8 8 q13.1 63672531 63673139 - 67679632 67680240 - 66767397 66768005 - 1580863;6480464 10806349;16201836;18029348;21906983 26255 Q9NZH4 ABBA01041882;AC011031;AF095289;AF200720;AMYH02018115;AY028471;DQ120700;NR_002734 AAC64411;AAF72580;AAK40241;ABC40663;Q9NZH4 Hs.647156 5492593 UniSTS:481730 PTTG3;rcPTTG1 APPROVED pseudo ENSG00000213005 HGNC:13422 PROVISIONAL 1353096 PTTG4P pituitary tumor-transforming 4 pseudogene 14 14 14 q24.2 51615374 51615853 - 71552114 71552593 - 71085397 71085876 - 9847074 326315 ABBA01030800;AC005230;AMYH02029457;NG_002565 pseudo HGNC:20055 INFERRED 1605189 PTX4 pentraxin 4, long PTX4 belongs to the pentraxin (PTX) superfamily of multifunctional conserved proteins. Pentraxins are characterized by a cyclic multimeric structure and a conserved C-terminal pentraxin domain of approximately 200 amino acids. All pentraxins have a conserved 8-amino acid sequence, HxCxS/TWxS, in which x is any amino acid, within their pentraxin domain. Pentraxins are divided into short proteins, such as C-reactive protein (CRP; MIM 123260) and serum amyloid P protein (APCS; MIM 104770), and long proteins, such as PTX3 (MIM 602492) and PTX4. Some PTXs are part of the humoral arm of innate immunity and behave as functional ancestors of antibodies by mediating agglutination, complement activation, and opsonization (summary by Martinez de la Torre et al., 2010 [PubMed 20357257]).[supplied by OMIM, Jun 2010] 16 16 16 p13.3 1748221 1750749 - 1535940 1538468 - 1485939 1488467 - 8554872 11157797;20357257;22504420 390667 H3BSQ8;Q96A99 ABBA01030306;AE006467;AL031705;AMYH02031232;CH471112;NM_001013658 AAI56067;AAI56945;AAK61283;EAW85652;NP_001013680;Q96A99 Hs.553770 C16orf38 neuronal pentraxin II-like;neuronal pentraxin-like protein C16orf38;pentraxin-4 APPROVED protein-coding ENSG00000251692 HGNC:14171 18401 613442 PROVISIONAL 1343528 PTX3 pentraxin 3, long ENCODES a protein that exhibits complement component C1q binding; virion binding; INVOLVED IN innate immune response; negative regulation by host of viral exo-alpha-sialidase activity; negative regulation by host of viral glycoprotein metabolic process; FOUND IN extracellular space; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; (S)-nicotine 3 3 3 q25 155578255 155585092 + 157154580 157161417 + 157436791 157443628 + 1580863;6480464 10931803;11762945;12004288;12006390;12006411;12477932;12538709;12611905;12645945;12763682;1429570;14515272;14603263;15262177;15308113;15489334;15894273;16020751;16166594;16339571;16344560;16380821;16617159;16647920;16769728;16865225;16981714;17095712;17277044;1730767;17380301;17424885;17441979;17487767;17496115;17611589;17675295;17786277;17947708;18045580;18048494;18292565;18417746;18571180;18650775;18676013;18685085;18703503;19014569;19050261;19079137;19131771;19164811;19211665;19273457;19327124;19389798;19396030;19565609;19632990;19718477;19772962;19792835;19794969;19811281;19846603;19900712;19913121;19917159;20022320;20121391;20134101;20356766;20363749;20378410;20391484;20399512;20430947;20508541;20515753;20628086;20640440;20683616;20927127;21072498;21072499;21106539;21112127;21173097;21257721;21330486;21388349;21389698;21391986;21423699;21465531;21490156;21501295;21529268;21677138;21716666;21764903;21796992;21880642;21883907;21900125;21914683;21915248;21920889;21933102;21948359;21953577;21989653;22053612;22072855;22123215;22178425;22267482;22278372;22304663;22309253;22319633;22447522;22529962;22546644;22577258;22617341;22687644;22714118;22747472;22785134;22822025;22834944;22847671;22883522;22889492;23012252;23062219;23100088;23169308;23182717;23235124;23237880;23245734;23285251;23341967;23401658;23424081;23434196;23443958;23475792;23527487;23579776;23609129;23625866;23643952;23658833;23664694;23690668;23735470;23771016;23817411;23863905;23954061;23991979;24012697;24039869;24060373;24132243;24215445;24261762;24273922;24279306;24333560;24347428;24350299;24476432;24652286;24664887;24675235;24745336;7523502;7679696;7949102;8131794;9119472;9407058;9521058 5806 P26022 ABBA01058829;AC020630;AK312705;AMYH02007983;BC027887;BC039733;BQ010272;CH471052;DA716533;DQ207368;M31166;NM_002852;X63053;X63613 AAA61234;AAH39733;ABA64467;BAG35583;CAA44778;CAA45158;EAW78708;NP_002843;P26022 Hs.591286 1647734;1662040;1743093;1798060 GDB:252088;PTX3_470;SHGC-77488;WI-7070 TNFAIP5;TSG-14 OTTHUMP00000213379;TNF alpha-induced protein 5;pentaxin-related gene, rapidly induced by IL-1 beta, tumor necrosis factor, alpha-induced protein 5;pentaxin-related gene, rapidly induced by il-1 beta;pentaxin-related protein PTX3;pentraxin-3;pentraxin-related gene, rapidly induced by IL-1 beta;pentraxin-related protein PTX3;tumor necrosis factor alpha-induced protein 5;tumor necrosis factor, alpha-induced protein 5;tumor necrosis factor-inducible gene 14 protein;tumor necrosis factor-inducible protein TSG-14 APPROVED protein-coding ENSG00000163661 HGNC:9692 03928 602492 VALIDATED 734153 PTPRN protein tyrosine phosphatase, receptor type, N The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010] 2 2 2 q35-q36.1 213924192 213944148 - 220154345 220174295 - 219289623 219309573 - 1580863;2313289;2313594;6480464;6907045;8554872 19513530;19741189 11043403;11079748;11086001;11289059;11334676;11483505;11908951;12021115;12021127;12477932;14624760;14702039;15596545;15620435;15939893;16273344;16713569;18048354;18373080;18504544;18535195;19447008;20035758;20083660;20193755;21073664;21270193;21442164;21577013;21744463;21792090;21935384;22966073;23110943;23142642;23396399;8024693;8144912;8641276;8646884;8798755;9828138 5798 C9J392;C9JCQ0;C9JJL7;C9JK57;C9JR27;H7C0U9;Q16849;Q96IA0;U3KQ66 AB209368;ABBA01023842;ABBA01023843;AC114803;AF042285;AK054765;AK122679;AK291469;AK294490;AK296335;AK314574;AMYH02005820;BC007713;BC070053;BT006975;CH471063;DC344431;DC352946;L18983;NG_029546;NM_001199763;NM_001199764;NM_002846;X62899 AAA90974;AAH07713;AAH70053;AAP35621;AAY24038;BAD92605;BAF84158;BAG53662;BAG57712;BAG59024;CAA44688;EAW70724;EAW70725;EAW70726;NP_001186692;NP_001186693;NP_002837;Q16849 Hs.89655 1650893;1676298;1680493;1684439;1744399;1746065;1796600;2117815;2191805 GDB:452693;MARC_8095-8096:996688286:1;PTPRN_1350;RH69021;RH70260;RH80635;RH80862;RH93957;X74438 FLJ16131;IA-2;IA-2/PTP;IA2;ICA512;R-PTP-N ICA 512;OTTHUMP00000164170;OTTHUMP00000205824;PTP IA-2;islet cell antigen 2;islet cell antigen 512;islet cell autoantigen 3;protein tyrosine phosphatase-like N;receptor-type tyrosine-protein phosphatase-like N APPROVED protein-coding ENSG00000054356 HGNC:9676 03466 601773 REVIEWED 731253 PUF60 poly-U binding splicing factor 60KDa This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 8 8 8 q24.3 141211452 141224560 - 144898514 144911556 - 143816344 143829386 - 6480464;6907045;8699517;7240710;8554872 10524322;10606266;10668799;10866799;10882074;11239393;11445587;12234937;12477932;14702039;15146197;15324660;16159877;16169070;16189514;16452196;16628215;16713569;17332742;17353931;17579712;17643375;18029348;18056422;18193062;18255255;18258596;18974054;19273283;19471022;19738201;20420426;20508642;21078624;21139048;21145461;21319273;21693764;21890473;21906983;21963094;21988832;22079093;22365833;22446626;22496461;22505724;22586326;22863883;22939629;22990118;23000965;23113893;23208506;23443559;23594796;23752268;23974796;24140112;24457600;24591637;24816145;25027693 22827 E9PL19;E9PMU7;E9PN18;E9PQ56;H0YCP8;H0YEM1;Q9UHX1 ABBA01005239;AC105049;AC105219;AC234917;AF114818;AF190744;AF217197;AK055941;AK292373;AL522753;AMYH02018948;AW249619;BC008875;BC009734;BC011265;BC011979;BC035435;BG771821;BX418925;CH471162;CN371576;CR457143;CT000277;CX163878;NG_033879;NM_001136033;NM_001271096;NM_001271097;NM_001271098;NM_001271099;NM_001271100;NM_014281;NM_078480;U51586 AAB41656;AAF05605;AAF23589;AAF27522;AAH08875;AAH09734;AAH11265;AAH11979;BAF85062;CAG33424;EAW82184;EAW82185;EAW82186;EAW82187;EAW82188;EAW82189;EAW82190;EAW82191;EAW82192;EAW82193;EAW82194;EAW82195;NP_001129505;NP_001258025;NP_001258026;NP_001258027;NP_001258028;NP_001258029;NP_055096;NP_510965;Q9UHX1 Hs.521924 2126488;2135632 RH70666;WI-19511 FIR;FLJ31379;SIAHBP1;VRJS;roBP1;siah-BP1 60 kDa poly(U)-binding-splicing factor;FBP interacting repressor;FBP-interacting repressor;FUSE-binding protein-interacting repressor;OTTHUMP00000228645;OTTHUMP00000228646;OTTHUMP00000228647;OTTHUMP00000228648;OTTHUMP00000228649;OTTHUMP00000228650;OTTHUMP00000228652;OTTHUMP00000228653;Ro ribonucleoprotein binding protein 1;Ro ribonucleoprotein-binding protein 1;RoBPI;Siah binding protein 1;poly(U)-binding-splicing factor PUF60;poly-U binding splicing factor PUF60;pyrimidine tract binding splicing factor;ro-binding protein 1;siah-binding protein 1 APPROVED protein-coding ENSG00000179950 HGNC:17042 18051 604819;615583 REVIEWED 68511 PTTG1 pituitary tumor-transforming 1 The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013] 5 5 5 q35.1 155881349 155888231 + 159848865 159855747 + 160421807 160428744 + 1580863;68295;6480464;6907045 9092795 10022450;10365261;10393434;10411507;10580151;10656688;10781616;11158059;11179223;11238996;11371342;11553328;11562349;12070128;12194817;12213878;12324572;12355087;12403781;12444553;12477932;12554778;12590639;12727994;12958169;12960092;14671639;14709851;14966902;15024062;15178645;15281346;15302935;15514942;15591026;15611659;15649325;15769981;15846392;15880121;15897900;15916961;15922332;15989971;16205121;16292982;16394085;16455800;16479161;16685397;16705156;16705313;16799481;16809406;16820881;16921029;16926250;16964243;17071631;17210994;17297475;17353909;17360335;17383977;17507465;17652795;17854787;17962814;18029348;18047793;18217976;18245958;18339849;18384692;18426563;18451147;18460583;18485873;18522889;18550719;18594525;18620995;18663361;18753362;18984771;19000457;19008095;19053469;19117984;19302955;19351864;19407503;19475398;19477929;19539243;19690544;19837943;19840458;19958546;20080579;20106827;20116377;20198633;20360068;20406982;20452981;20506293;20621061;20628624;20650808;20677014;20953187;20962850;20978326;21068098;21069851;21099350;21126432;21129230;21176344;21181309;21272169;21336306;21408207;21439054;21757741;21839581;21858218;21906983;21937724;21963094;22002306;22081074;22193957;22209758;22260438;22419713;22475756;22505724;22511756;22522436;22783570;22791750;22805307;22819078;22994714;23051594;23091007;23128677;23164239;23239745;23267136;23404407;23416975;23489647;23523951;23527717;23671127;23677169;23707760;23708001;23755904;23798554;23850618;23867215;23977008;24051510;24238056;24314023;24627133;24781523;24853182;24930963;9811450;9892021;9915854;9925941 9232 E5RJR4;O95997;Q6IAL9 ABBA01044218;AC091842;AF062649;AF075242;AF095287;AF167560;AF167564;AJ223953;AK312209;AMYH02012605;BC026003;BC101834;BC108894;BC108895;BC112071;BC113842;BC113896;BC128193;BC128194;BI827526;BM990391;BU182149;CH471062;CR457135;CR541685;GN344095;HY006026;NM_001282382;NM_001282383;NM_004219 AAC64409;AAC69752;AAD19335;AAF06995;AAI01835;AAI08895;AAI08896;AAI12072;AAI13843;AAI13897;AAI28194;AAI28195;BAG35142;CAA11683;CAG33416;CAG46486;CAY55983;EAW61551;EAW61552;EAW61553;NP_001269311;NP_001269312;NP_004210;O95997 Hs.350966 1767813;5492593 RH35896;UniSTS:481730 EAP1;HPTTG;MGC126883;MGC138276;PTTG;TUTR1 ESP1-associated protein 1;OTTHUMP00000160845;OTTHUMP00000224265;OTTHUMP00000224267;pituitary tumor-transforming gene 1 protein;securin;tumor-transforming protein 1 1643361;2289409 BW307_H;BW320_H APPROVED protein-coding ENSG00000164611 HGNC:9690 04998 604147 REVIEWED 734357 PTPRS protein tyrosine phosphatase, receptor type, S The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5143031 5278326 - 5205514 5340814 - 5205503 5340803 - 1580863;6480464;8554872 10080191;10080192;10435588;10777529;12376545;12477932;1370651;15057824;15146197;16169070;16273344;16335952;16552719;17353931;17614280;17893260;19000305;19460752;20139422;20179269;21139048;21303930;21454754;21812780;21875946;21906983;21963094;22027896;22065749;22268729;24250222;8524829;8954782;8992885;9357975;9566880;9624153;9790732 5802 G8JL96;K7ERX4;K7ESP0;Q13332;Q59FX6;Q8NHS7 AB209333;ABBA01056017;ABBA01056018;ABBA01056019;ABBA01056020;ABBA01056021;ABBA01056022;ABBA01056023;ABBA01056024;AC005335;AC005338;AC005788;AC005790;AC118535;AMYH02035318;AMYH02035319;AMYH02035320;AMYH02035321;AMYH02035322;AMYH02035323;AMYH02035324;BC029496;BC104812;BC143286;BC143287;BC148297;BI461316;CH471139;CN413749;CN413752;KF456481;NG_033964;NM_002850;NM_130853;NM_130854;NM_130855;S78080;S78086;U35234;U40317;U41725;XM_005259600;XM_005259601;XM_005259606;XM_005259607;XM_005259609;XM_005259610;XM_006722808;XM_006722809;XM_006722810;XM_006722811;XM_006722812;XM_006722813;XM_006722814;XM_006722815;XM_006722816;XM_006722817;XM_006722818;XM_006722819;XM_006722820;XM_006722821 AAB21146;AAB21147;AAC27825;AAC50299;AAC50567;AAC62832;AAC62834;AAD09360;AAH29496;AAI04813;AAI43288;AAI48298;BAD92570;EAW69170;EAW69171;EAW69172;EAW69173;EAW69174;EAW69175;EAW69176;EAW69177;EAW69178;EAW69179;NP_002841;NP_570923;NP_570924;NP_570925;Q13332;XP_005259657;XP_005259658;XP_005259663;XP_005259664;XP_005259666;XP_005259667;XP_006722871;XP_006722872;XP_006722873;XP_006722874;XP_006722875;XP_006722876;XP_006722877;XP_006722878;XP_006722879;XP_006722880;XP_006722881;XP_006722882;XP_006722883;XP_006722884 Hs.744928 1668212;1722175;1730201;1760217;1850097;2111406;2128642;2217876;7185056;7187964 D19S1011;D19S233E;D19S612E;G60139;PTPRS_2667;RH66535;SHGC-132497;STS-N38920 R-PTP-S PTPSIGMA;R-PTP-sigma;protein tyrosine phosphatase PTPsigma;protein tyrosine phosphatase, receptor type, d;protein tyrosine phosphatase, receptor type, sigma;receptor-type tyrosine-protein phosphatase S;receptor-type tyrosine-protein phosphatase sigma APPROVED protein-coding ENSG00000105426 HGNC:9681 03344 601576 REVIEWED 1316232 PUM1 pumilio RNA-binding family member 1 This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 1 p35.2 29660269 29795252 - 31404353 31538838 - 30931506 31065717 - 1580863;6480464;8554872 11031247;11252894;11336708;12202039;12459267;12477932;12771951;14584586;14702039;15146197;15231748;15489334;16429158;16710414;16713569;17081983;17116749;18211679;18328718;18411299;19319195;19322201;20379614;20818387;21139048;21145461;21397187;21890473;21906983;21963094;21988832;22268729;22345517;22505724;22586326;22623428;22916034;22939629;23443559;23625657;24255178;24457600;24816145;7788527;8125298 9698 E9PL65;E9PM68;E9PMX1;E9PR38;H0YC97;H0YCK1;H0YDC5;H0YDK8;H0YDQ6;H0YED4;H0YEH2;Q14671;Q5T1Z4;Q5T1Z8 ABBA01023486;ABBA01023487;ABBA01023488;ABBA01023489;ABBA01023490;ABBA01023491;ABBA01023492;AF315592;AK056662;AK096476;AK222605;AK291779;AK294477;AK300457;AL356320;AL445235;AL699026;AMYH02000668;AMYH02000669;AMYH02000670;AMYH02000671;AMYH02000672;AMYH02000673;AMYH02000674;BC013398;BX647437;CH471059;CN402209;D43951;NM_001020658;NM_014676 AAG31807;AAH13398;ADZ15564;BAA07895;BAD96325;BAF84468;BAG53299;BAG57703;BAG62177;EAX07630;EAX07631;EAX07632;EAX07633;EAX07634;NP_001018494;NP_055491;Q14671 Hs.281707 1334530;1341567;1660935;1663014;1675227;1691962;1720673;1792332;1796604;2126123;2149325;2182109 AL033634;D1S1161;D1S233;D1S3716;G06256;G59151;PMC141031P1;PUM1_403;RH25326;RH68367;SHGC-74502;SHGC-74520 HSPUM;KIAA0099;PUMH;PUMH1;PUML1 OTTHUMP00000003892;OTTHUMP00000003893;OTTHUMP00000003894;OTTHUMP00000003895;OTTHUMP00000235189;OTTHUMP00000235190;OTTHUMP00000235191;OTTHUMP00000235192;OTTHUMP00000235193;OTTHUMP00000235194;pumilio homolog 1;pumilio-1 APPROVED protein-coding ENSG00000134644 HGNC:14957 06230 607204 REVIEWED 1312911 PURG purine-rich element binding protein G The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p11 29813365 29851272 - 30853320 30891231 - 30995804 31033715 - 6480464 12034829;12477932;15489334;23000965;23333304;24250222 29942 K7ENC1;Q9UJV8 ABBA01023645;ABBA01023646;ABBA01023647;AC008066;AC084736;AF195513;AMYH02017725;AMYH02017726;AMYH02017727;AY077841;BC106708;CH471080;NM_001015508;NM_013357;XM_005273483;XM_005273484 AAF03900;AAI06709;AAL77218;EAW63428;EAW63429;NP_001015508;NP_037489;Q9UJV8;XP_005273540;XP_005273541 Hs.373778 1791394;1791608;2113888;2122786;5492463;5493601 AB060832;PMC109206P1;PMC117198P1;SHGC-30538;UniSTS:481162;UniSTS:488917 MGC119274;PURG-A;PURG-B OTTHUMP00000212016;OTTHUMP00000212017;Pur-gamma;purine-rich element-binding protein gamma APPROVED protein-coding ENSG00000172733 HGNC:17930 17933 REVIEWED 1320107 PTPRT protein tyrosine phosphatase, receptor type, T The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] 20 20 20 q12-q13 37412018 38527269 - 40701392 41818557 - 42072752 43189917 - 1580863;6480464;8554872 11423001;11780052;11814386;12477932;15155950;16273344;16344560;16973135;17223850;17360477;18519826;18644975;18668548;19351817;19816407;20133777;20201926;20379614;21145461;21517784;22389709;23382691;24024966;24315451;24395800;24434140;8889549;9179496;9486824;9602027 11122 B1AJR6;B1AJR8;B1AJR9;B1AJS0;O14522 AB006621;ABBA01052585;ABBA01052586;ABBA01052587;ABBA01052588;ABBA01052589;ABBA01052590;ABBA01052591;ABBA01052592;ABBA01052593;ABBA01052594;ABBA01052595;ABBA01052596;ABBA01052597;AF043644;AL021395;AL022239;AL024473;AL031656;AL031676;AL035459;AL035666;AL049812;AL109826;AL117374;AL121763;AL136461;AL359695;AL707728;AMYH02037097;AMYH02037098;AMYH02037099;AMYH02037100;AMYH02037101;AMYH02037102;AMYH02037103;AMYH02037104;AMYH02037105;AMYH02037106;AMYH02037107;AMYH02037108;AMYH02037109;BC153300;CH471077;DA791336;KF456902;KF456906;KF456908;KF456909;KF456910;KF456911;KF456914;KF456915;NG_033880;NM_007050;NM_133170;R50970;XM_006723685;XM_006723686;XM_006723687;XM_006723688;XM_006723689;Z93942 AAD09421;AAI53301;AAI66683;BAA22952;EAW75970;EAW75971;EAW75972;NP_008981;NP_573400;O14522;XP_006723748;XP_006723749;XP_006723750;XP_006723751;XP_006723752 Hs.526879 1335755;1336096;1340410;1342350;1645099;1650640;1653273;1660827;1668927;1694440;1701592;1703412;1712637;1713633;1714775;1716179;1724741;1726431;1726717;1729498;1751639;1758855;1764583;1796602;1856262;2125656;2125858;2129860;2149909;2150949;2154229;2156686;2160309;2161950;2164860;2168688;2171261;2185645;7184612;7184955;7186691 AL022351;AL023697;AL030967;AL031487;AL031489;D20S108;D20S110;D20S46;D20S466;D20S499;D20S591E;D20S598;D20S858;D20S899;G31023;G42933;G62595;G62746;PTPRT_1775;RH104430;RH120053;RH120169;RH120697;RH121112;RH122575;RH66086;SHGC-105606;SHGC-148173;SHGC-150658;SHGC-68781;WI-10350;Z94342;Z94343;Z94358;Z94437;Z94519;Z94543;Z94641 KIAA0283;RPTPrho OTTHUMP00000031657;OTTHUMP00000031658;OTTHUMP00000031659;OTTHUMP00000031660;OTTHUMP00000031661;OTTHUMP00000031662;OTTHUMP00000031663;R-PTP-T;RPTP-rho;receptor protein tyrosine phosphatase;receptor-type tyrosine-protein phosphatase T;receptor-type tyrosine-protein phosphatase rho APPROVED protein-coding ENSG00000196090 HGNC:9682 06690 608712 REVIEWED 1345902 PUS3 pseudouridylate synthase 3 The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 11 11 11 q24.2 122923405 122933137 - 125763380 125773145 - 125893485 125903250 - 737633;6480464;8554872 12477932 11027153;14702039;15489334;16341674;24250222;24816145 83480 E9PNY6;E9PRI9;Q9BZE2 ABBA01031233;AF325689;AK055702;AK074218;AK314251;AMYH02025740;AP000842;BC004822;BC013427;BM786445;CH471065;CR982568;NG_033067;NM_001271985;NM_031307;XM_005271687;XM_005271688 AAG50280;AAH04822;AAH13427;ABM87652;ABM87653;ABW03597;ABW03906;BAB70990;BAG36917;EAW67667;NP_001258914;NP_112597;Q9BZE2;XP_005271744;XP_005271745 Hs.660922 2151203 RH47976 2610020J05Rik;FKSG32;FLJ23638 OTTHUMP00000231362;tRNA pseudouridine synthase 3;tRNA pseudouridine(38/39) synthase;tRNA pseudouridylate synthase 3;tRNA-uridine isomerase 3 protein-coding ENSG00000110060 HGNC:25461 15195 REVIEWED 1606697 PUS10 pseudouridylate synthase 10 Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009] 2 2 2 p16.1 61011139 61088956 - 61167548 61245365 - 60940413 61018230 - 6480464;8554872 12477932;14527409;14702039;15342556;17900615;19068216;19240061;19712588;19773279;20190752;20228799;20468071;21072187;21102463;21297633;21298027;22412388;23128233 150962 A8MUL8;C9JNL8;Q3MIT2 AA878516;ABBA01075341;AC010733;AK056874;AK291729;AL832208;AMYH02003916;AMYH02003917;BC101680;BC101706;BC143480;BP354604;CH471053;NM_144709;XM_006711952 AAI01681;AAI01707;BAB71300;BAF84418;CAI46123;EAX00022;EAX00023;EAX00024;EAX00025;EAX00026;EAX00027;NP_653310;Q3MIT2;XP_006712015 Hs.368348 1655470;1674234;1760717;2117120 SHGC-144246;SHGC-56768;WI-15536;WIAF-2118 CCDC139;DOBI;FLJ32312;MGC126729;MGC126755 OTTHUMP00000159792;OTTHUMP00000201431;coiled-coil domain containing 139;coiled-coil domain-containing protein 139;pseudouridine synthase 10;psi55 synthase;putative tRNA pseudouridine synthase Pus10;tRNA pseudouridine 55 synthase;tRNA pseudouridylate synthase;tRNA-uridine isomerase APPROVED protein-coding ENSG00000162927 HGNC:26505 08126 612787 VALIDATED 8548393 PUS7P1 pseudouridylate synthase 7 pseudogene 1 9 9 9 18079570 18080218 + 18153566 18154214 + 18153568 18154216 + 100421790 ABBA01065226;AL513503;AMYH02019242;NG_023877 pseudo HGNC:49779 INFERRED 1318376 PURA purine-rich element binding protein A This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008] 5 5 5 q31 135569524 135572137 + 139493708 139499001 + 140114123 140119416 + 1580863;6480464 10082537;10318844;10412036;10457364;10500218;10597240;10679817;10954586;11032728;11169743;11181995;11413364;11417483;11596104;11730934;11751932;11937543;12034829;12147688;12411317;12477932;12491158;12565890;12933792;12972605;1448097;1545807;15517862;15707957;15777841;16196087;16741963;17081983;17353931;17641060;17643375;17722108;18187620;18258596;18386260;18413735;18780968;18927497;19165527;19182532;19267365;20020773;21062477;21139048;21145461;21151833;21890473;21903422;22337293;22835829;22939629;23000965;23151878;23152365;23463506;24446247;24457600;24778252;24816145;7592647;7606931;7862639;8759014;8943069;9334258;9383706;9716182;9830007 5813 Q00577;Q5U0P9 ABBA01026440;AC011379;AMYH02012325;BC036087;BC110574;BC110594;BT019388;CH471062;CK819077;M96684;NM_005859;X91648 AAA60229;AAH36087;AAI10575;AAI10595;AAV38195;EAW62076;NP_005850;Q00577 Hs.443121;Hs.733524 2219578;5493039 PURA__5615;UniSTS:483914 PUR-ALPHA;PUR1;PURALPHA OTTHUMP00000159547;purine-rich single-stranded DNA-binding protein alpha;transcriptional activator protein Pur-alpha APPROVED protein-coding HGNC:9701 02721 600473 REVIEWED 1353807 PUSL1 pseudouridylate synthase-like 1 ENCODES a protein that exhibits pseudouridine synthase activity (inferred); RNA binding (inferred); INVOLVED IN pseudouridine synthesis (inferred); tRNA processing (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; phenobarbital; bis(2-ethylhexyl) phthalate (ortholog) 1 1 1 p36.33 1334084 1337147 - 1243962 1247057 + 1308582 1311677 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;16303743;17207965;20186120;21832049;21906983;23128233;24250222 126789 J3KTG4;Q8N0Z8 ABBA01016030;AK027721;AK075292;AK298218;AL139287;AMYH02000091;BC034304;CH471183;CQ784021;NM_153339;XM_005244720;XM_006710338;XM_006710339;XR_241027 AAH34304;ADQ31889;BAC11527;BAG60488;CAF86973;EAW56245;NP_699170;Q8N0Z8;XP_005244777;XP_006710401;XP_006710402 Hs.400659 1682405;1688951;1739935 D1S2520;RH76790;RH91825 FLJ90811 OTTHUMP00000003420;tRNA pseudouridine synthase-like 1;tRNA pseudouridylate synthase-like 1;tRNA-uridine isomerase-like 1 protein-coding ENSG00000169972 HGNC:26914 08301 PROVISIONAL 1353565 PURB purine-rich element binding protein B This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008] 7 7 7 p13 45014669 45023741 - 44915892 44924960 - 44876293 44885385 - 1580863;6480464 10318844;11417483;12477932;12690205;12853948;12933792;1448097;14702039;15302935;15489334;17081983;18029348;19322201;19496623;20020773;20201926;21139048;21145461;21151833;22113938;22174317;22863883;22939629;23000965;23151878;24332808;24446247;24457600;24778252;24816145;9847074 5814 Q96QR8 AA016115;ABBA01058239;AC004854;AI042138;AI050971;AI209043;AI912557;AK054977;AK056651;AK057669;AL119133;AL705373;AMYH02015630;AY039216;BC101735;BC101737;BF964815;BG776957;BM015566;BQ890213;BU154650;BU177276;CB046374;CH236960;CH471128;DR005180;NM_033224;R89560 AAI01736;AAI01738;AAK72462;AAS00366;EAL23749;EAW61073;NP_150093;Q96QR8 Hs.349150;Hs.596321 1645627;1667868;1777691;1790193;2124191;5022200;5022450;5024039;5037552;5492397;5492953;5493523 A006U23;AA859841;D10S275;D16S325;D7S2274;D8S2279;L18426;SGC32761;SHGC-31275;UniSTS:480909;UniSTS:483353;UniSTS:487017 MGC126784;MGC126786;PURBETA OTTHUMP00000159538;purine-rich element-binding protein B;transcriptional activator protein Pur-beta APPROVED protein-coding ENSG00000146676 HGNC:9702 12325 608887 REVIEWED 735961 PVALB parvalbumin The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 20994687 21013451 - 37196745 37215517 - 36800701 36819473 - 1580863;6480464;7204685;8554872 20943758 10036163;10591208;12477932;12867516;15059934;15257133;15461802;15489334;1559707;1561106;17244347;17405923;17850980;18297277;18469313;19460752;20093724;20926528;22272358;22509378;23251661;23254904;23470693;23764361;23825418;23891794;24217255;2614829;7790883;8354278;8804689 5816 B1AH72;B8ZZ19;H0Y3U0;P20472 AA771973;ABBA01055450;AI262242;AK311832;AMYH02038326;AX588263;AX588264;AX588265;BC069300;BC096112;BC096113;BC096114;BC096115;CH471095;CR456552;NM_002854;X52695;X63070;X63578;XM_006724285;XM_006725404;Z82184;Z82185 AAH69300;AAH96112;AAH96113;AAH96114;AAH96115;BAG34774;CAA36924;CAA44792;CAA45134;CAD61488;CAD61489;CAD61490;CAG30438;CAK54583;CAK54882;EAW60118;EAW60119;EAW60120;EAW60121;NP_002845;P20472;XP_006724348;XP_006725467 Hs.295449 1741969;1742089;1853274;2138101;5014439 D22S1030;GDB:187324;GDB:190931;SGC30938;SHGC-11984 D22S749;MGC116759 OTTHUMP00000197804;OTTHUMP00000197805;OTTHUMP00000197806;OTTHUMP00000197807;OTTHUMP00000197808;parvalbumin alpha APPROVED protein-coding ENSG00000100362 HGNC:9704 01353 168890 REVIEWED 1606495 PUS7L pseudouridylate synthase 7 homolog (S. cerevisiae)-like ENCODES a protein that exhibits pseudouridine synthase activity (inferred); RNA binding (inferred); INVOLVED IN pseudouridine synthesis (inferred); tRNA processing (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; atrazine 12 12 12 q12 42924817 42954984 - 44121828 44152620 - 43728025 43758817 - 6480464 11076863;11230166;12477932;14702039;15489336;16344560;16381901;19913121;20379614;20628086;21139048;21832049;22610502;23314748;24250222;24816145;8125298 83448 F8VP66;F8VW99;F8VWC0;F8VZA0;Q9H0K6 ABBA01031420;ABBA01031421;AC016143;AC093012;AK092030;AK097331;AK225903;AL136759;AMYH02026381;AMYH02026382;BC018000;BC020781;BC033621;BC068502;BX647494;CH471111;CR627435;DA950015;DB073931;DB518759;NM_001098614;NM_001098615;NM_001271826;NM_031292;XM_005269166;XM_005269168;XM_006719623;XM_006719624;XR_245959 AAH20781;AAH33621;AAH68502;BAG53453;CAB66693;CAH10521;CAL37849;EAW57866;NP_001092084;NP_001092085;NP_001258755;NP_112582;Q9H0K6;XP_005269223;XP_005269225;XP_006719686;XP_006719687 Hs.445814 DKFZp434G1415;DKFZp781B2386;FLJ34711;FLJ40012 OTTHUMP00000241029;OTTHUMP00000241030;OTTHUMP00000241031;OTTHUMP00000241032;pseudouridylate synthase 7 homolog-like protein protein-coding ENSG00000129317 HGNC:25276 13189 VALIDATED 7247303 PVRIG2P poliovirus receptor related immunoglobulin domain containing 2, pseudogene 7 7 q22.1 99949941 99951559 + 100352318 100353936 + 101752334 ABBA01013219;AC005071;AMYH02016378;DR001780;NR_103728 Hs.521075 pseudo HGNC:48897 INFERRED 1322257 PUM2 pumilio RNA-binding family member 2 This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This protein is also thought to be a positive regulator of cell proliferation in adipose-derived stem cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 2 2 2 p22-p21 20311202 20389869 - 20448453 20550585 - 20248692 20350975 - 6480464 12168954;12421765;12459267;12477932;12511597;12690449;12771951;14702039;15302935;15489334;15607425;15617101;15815621;16967088;17081983;17154300;18029348;19168546;19322201;21139048;21397187;21589936;21649561;21800163;21890473;21906983;21963094;22190034;22231398;22345517;22505724;23000965;24457600;9039502 23369 B7ZL34;C9JE24;C9JW01;F2Z366;F8WD57;Q8TB72 ABBA01018474;ABBA01018475;ABBA01018476;AC007041;AF272350;AF315591;AK093847;AK304198;AMYH02003364;AMYH02003365;AMYH02003366;AMYH02003367;BC024218;BC112046;BC112048;BC143550;BC143552;BG717417;CH471053;D87078;NM_001282752;NM_001282790;NM_001282791;NM_015317;XM_005262607;XM_005262609;XM_005262610;XM_006711972;XM_006711973;XM_006711974;XM_006711975 AAG31806;AAH24218;AAI12047;AAI12049;AAI43551;AAL36981;AAY15026;BAA19665;BAG52772;BAG65078;EAX00821;EAX00822;EAX00823;EAX00824;NP_001269681;NP_001269719;NP_001269720;NP_056132;Q8TB72;XP_005262664;XP_005262666;XP_005262667;XP_006712035;XP_006712036;XP_006712037;XP_006712038 Hs.467824 1645917;1646557;1649163;1666757;1688865;1693550;1724781;1752891;1851849;2124126;2147298;2147300;2190549;5016012 38994323;A001Y33;EST24F7;G09500;G16351;G19793;RH12096;RH122597;RH12262;RH25440;RH79823;SHGC-106834;SHGC-31204;SHGC-58462 FLJ36528;KIAA0235;MGC138251;MGC138253;PUMH2;PUML2 OTTHUMP00000151186;OTTHUMP00000200539;OTTHUMP00000200540;pumilio homolog 2;pumilio-2 APPROVED protein-coding ENSG00000055917 HGNC:14958 09527 607205 REVIEWED 1319880 PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 42153754 42196828 + 45349393 45392485 + 44846136 44889228 + 1580863;6480464;6767565;6767558;6484658;6484113;8554872 16738668;17376543;22159054 10196354;10225955;10520737;10617658;10627537;10729168;10733589;11544254;11602758;11984219;12011057;12438620;12477932;12913096;12915581;15039383;15146197;15465608;15489334;15536144;15607800;15811349;16169070;16189514;16304049;16313259;16344560;16740910;16831868;17081983;17534374;17696193;18823527;19011627;19478445;19815499;19913121;20410314;20572854;20617580;20628086;20634891;20662561;20672350;20885792;21139048;21383766;21900206;21906983;21909109;21982860;21988832;22005931;22927415;23192594;23326517;23419831;23465821;23565137;24116228;7622062;9657005;9683266;9845526 5819 K7EK87;K7EKE8;K7ERL3;Q92692 ABBA01040890;AC011481;AC093232;AF044962;AF044963;AF044964;AF044965;AF044966;AF044967;AF044968;AF050154;AF058448;AJ708439;AK291330;AMYH02036182;AMYH02036183;AY331689;AY331691;AY331694;BC003091;BQ549399;CH471126;CN359643;CN410857;CR456818;DA198252;KF459581;NG_029149;NM_001042724;NM_002856;X80038 AAC23797;AAC82347;AAC82348;AAD02503;AAH03091;AAQ19176;AAQ19177;AAQ19178;ABM82755;ABM85941;BAF84019;CAA56342;CAG33099;EAW57298;EAW57299;NP_001036189;NP_002847;Q92692 Hs.655455 1648272;1678449;1690029;1777993 A006Y34;D19S1088;RH41685;RH94344 CD112;HVEB;PRR2;PVRR2 herpes virus entry mediator B;herpesvirus entry mediator B;herpesvirus entry protein B;nectin 2;nectin-2;poliovirus receptor related 2;poliovirus receptor-like 2;poliovirus receptor-related protein 2 APPROVED protein-coding ENSG00000130202 HGNC:9707 02879 600798 REVIEWED 5144682 PVRL3-AS1 PVRL3 antisense RNA 1 3 3 3 q13.13 109163630 109187706 - 110764162 110788806 - 111045315 111069959 - 8889548 100506555 ABBA01061675;AC133477;AMYH02007428;BM678464;BU852869;HG495923;NR_045114 Hs.535689 1856956 D3S4228 RP11-553A10.2 APPROVED ncrna HGNC:40813 VALIDATED 1350722 PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009] 11 11 11 q23.3 116669897 116760980 - 119508808 119599435 - 119638098 119728725 - 1599795;1580863;6480464;7240710;8554872;8699517 10932188 10225955;1034214;10617658;11356977;11544254;11559849;11756979;12011057;12072519;12438620;12477932;12515806;12764381;12885915;12915568;14702039;15110526;15146195;15489334;15731277;15857834;16122939;16247549;16335952;16497481;16674562;16679515;17005657;17089422;17164781;1776626;18076965;18356023;18358807;18451037;18803666;18978678;18983929;19408722;19457990;19715471;20379614;20501653;20543867;20572854;20634891;20672350;21139048;21906983;21980294;21982860;22171266;22455396;22460696;22955284;24100313;24314649;7721102;8889548;9616127;9696799;9758630;9811737;9845526;9861033 5818 Q15223;Q8WXR3 ABBA01039665;ABBA01039666;AF060231;AF110314;AF196774;AF252867;AF373875;AF373876;AI819997;AK056455;AK091231;AK095375;AMYH02025670;AP003390;AP003393;AY029539;AY445578;AY445579;AY445581;BC007379;BC021976;BC044230;BC064140;BC086309;BC104948;BC113471;BQ188335;CH471065;KF455550;NG_013083;NM_002855;NM_203285;NM_203286;X76400 AAC23798;AAD04944;AAG16648;AAG16649;AAI04949;AAI13472;AAK33124;AAL47715;AAL47716;AAR88250;AAR88251;AAR88252;ADR83051;CAA53980;EAW67492;EAW67493;EAW67494;NP_002846;NP_976030;NP_976031;Q15223 Hs.334846 1664118;1737185;1755961;1764707;1849230;2219580 A001W33;D11S3049;D11S4421;PVRL1__5616;SHGC-142781;SHGC-148300 CD111;CLPED1;ED4;HIgR;HV1S;HVEC;MGC142031;MGC16207;OFC7;PRR;PRR1;PVRR;PVRR1;SK-12;nectin-1 OTTHUMP00000232093;OTTHUMP00000232094;OTTHUMP00000232095;ectodermal dysplasia 4 (Margarita Island type);herpes simplex virus type 1 sensitivity;herpes virus entry mediator C;herpesvirus Ig-like receptor;nectin 1;poliovirus receptor-like 1;poliovirus receptor-related protein 1 APPROVED protein-coding ENSG00000110400 HGNC:9706 07200 225060;600644 REVIEWED 1604301 PVRIG poliovirus receptor related immunoglobulin domain containing ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; ethyl methanesulfonate; formaldehyde 7 7 7 q22.1 94552220 94554458 + 99816147 99819113 + 100218749 100221490 + 6480464;8554872 12477932;16926269;17207965;8125298 79037 Q6DKI7;Q8ND88 ABBA01013228;AC005071;AMYH02016375;BC001129;BC032113;BC073861;BC107873;BC112090;BC112092;CH236956;CH471091;CQ834392;NM_024070;XM_006716125 AAH01129;AAH73861;AAI07874;ADQ31964;ADZ15343;CAH05411;EAW76566;EAW76567;NP_076975;Q6DKI7;XP_006716188 Hs.729356 1685317;2218062;5492855 RH94384;STAG3_3530;UniSTS:483051 C7orf15;MGC104322;MGC138295;MGC138297;MGC2463 OTTHUMP00000210634;poliovirus receptor-related immunoglobulin domain-containing protein;transmembrane protein PVRIG protein-coding ENSG00000213413 HGNC:32190 VALIDATED 1603643 PUS7 pseudouridylate synthase 7 (putative) ENCODES a protein that exhibits enzyme binding; poly(A) RNA binding; INVOLVED IN pseudouridine synthesis (inferred); tRNA processing (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; all-trans-retinoic acid 7 7 7 q22.3 99902490 99967797 - 105096948 105162689 - 105456501 105532045 - 6480464;8554872 11572484;12477932;12853948;14702039;15489334;19322201;19471022;20379614;21139048;21252943;21890473;21906983;21963094;22053931;22863883;22939629;23000965;23382074;24322204;24816145 54517 B3KRB2;B3KY42;E7EUH7;H0Y863;Q96PZ0 AB067484;ABBA01057947;ABBA01057948;AC073073;AC073138;AC074013;AK000492;AK091283;AK128629;AMYH02016479;AMYH02016480;AMYH02016481;BC005209;BC011396;CH236947;CH471070;NM_019042;XM_005250462;XM_005250463;XM_006716030;XR_242250 AAH05209;AAH11396;AAS02005;AAS07447;BAA91203;BAB67790;BAG52324;BAG54704;EAW83363;EAW83364;NP_061915;Q96PZ0;XP_005250519;XP_005250520;XP_006716093 Hs.520619 2149498;2150552;5091713 RH36289;SGC32747;WI-11197 FLJ20485;KIAA1897;MGC17720 OTTHUMP00000212074;OTTHUMP00000212075;OTTHUMP00000212076;pseudouridylate synthase 7 homolog APPROVED protein-coding ENSG00000091127 HGNC:26033 07914 VALIDATED 1347607 PVRL4 poliovirus receptor-related 4 This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011] 1 1 1 q22-q23.2 134107964 134126560 - 161040781 161059385 - 161070991 161089595 - 737633;1580863;6480464;7240710;8554872;8699517 12477932 10225955;11544254;12011057;14702039;15784625;15811349;16344560;17474988;19679554;20691405;20959669;21333831;21346770;21526486;21901103;21982860;22048310;22869128;22926846;23174504;23202587;23760251;24335299;24577405;9845526 81607 B4DQW3;K4PZ75;Q96NY8 AB755430;ABBA01016599;ABBA01016600;AF160477;AF218028;AF426163;AK027753;AK298981;AK301481;AL591806;AMYH02002031;BC010423;BC013892;BX641083;CF529301;CH471121;DB223835;JC444464;JC453126;JC453130;JC453132;JC453134;JC453138;JC453140;NG_028109;NM_030916;XM_005245508 AAF82399;AAG17270;AAH10423;AAL23958;ABM84430;ABM87482;BAB55344;BAG61075;BAG62996;BAM65001;CDM63684;CDM63771;CDM63773;CDM63774;CDM63775;CDM63777;CDM63778;EAW52665;EAW52666;NP_112178;Q96NY8;XP_005245565 Hs.492490;Hs.732297 2107539 PVRL4__6951 DKFZp686K05193;EDSS1;LNIR;PRR4;nectin-4 Ig superfamily receptor LNIR;OTTHUMP00000029698;nectin 4;poliovirus receptor-related protein 4 APPROVED protein-coding ENSG00000143217 HGNC:19688 17934 609607;613573 REVIEWED 7249560 PWAR4 Prader Willi/Angelman region RNA 4 15 15 15 q11.2 3618863 3619204 + 25456839 25457180 + 25211692 25212033 + 11106375;15099288;20735158;22283974;7987392;9477342 347745 ABBA01048691;AC124303;AF019617;AMYH02030094;NG_002690;NR_022010 Hs.711815 PAR-4;PAR4 ncrna HGNC:29998 VALIDATED 7246117 PWAR5 Prader Willi/Angelman region RNA 5 INTERACTS WITH 17beta-estradiol 15 15 15 q11.2 3392000 3395372 + 25230007 25233379 + 24984860 24988232 + 6480464 12107410;15146197;19278672;23726844;7987392;8401585;9477342 8123 AA358385;ABBA01048688;AC124312;AF019618;AMYH02030094;CA392538;CN358995;NG_002690;NR_022008 Hs.660427 D15S226E;PAR-5;PAR5 ncrna ENSG00000279192 HGNC:30090 600162 VALIDATED 1347394 PWCR Prader-Willi syndrome chromosome region 5821 HGNC:9710 736513 PVR poliovirus receptor The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 19 19 19 q13.2 41951144 41973471 + 45147098 45169429 + 44643798 44666161 + 1580863;6480464;7240710;8699517 10618374;10737800;10841575;11437656;11573956;11751937;11983699;12011057;12195344;12477932;12663789;12759359;12913096;12943679;1331527;14652024;14702039;15034010;15039383;15057824;15076773;15136589;15194502;15194795;15279713;15471548;15489334;15536144;15607800;15640804;16216929;16304049;16335952;16344560;16831868;1701111;17446174;17507470;17534374;17893876;18029348;1851992;19011098;19011627;19056733;19319949;19322201;19801517;19815499;20331633;20634891;21330602;21383766;2170108;21833088;21906983;21963094;21982860;21988832;21998457;22169283;22301152;22363471;22692919;22929570;22939629;23276719;23333754;23980210;24045107;24250222;24598754;24817116;2538245;7914388 5817 A8K4I1;F8W7D4;K7EMC6;P15151 ABBA01040880;AC068948;AC243964;AI374885;AK025949;AK094177;AK098812;AK290946;AK300349;BC015542;BE838104;CA416069;CH471126;DA849917;DC400059;HH958003;M24406;M24407;NG_008781;NM_001135768;NM_001135769;NM_001135770;NM_006505;X64116;XM_005259120 AAA36461;AAA36462;AAF69803;AAH15542;ABM81895;ABM85069;BAF83635;BAG52836;BAG62091;CAA45478;CAA45479;CAA45480;CBX51265;EAW57284;EAW57285;EAW57286;NP_001129240;NP_001129241;NP_001129242;NP_006496;P15151;XP_005259177 Hs.171844 1650790;1653350;1760671;2152014 RH35929;SHGC-144216;SHGC-31865;STS-H99988 CD155;FLJ25946;HVED;NECL5;Necl-5;PVS;TAGE4 OTTHUMP00000200165;OTTHUMP00000200167;OTTHUMP00000200168;nectin-like 5;nectin-like protein 5;tumor-associated antigen 1 APPROVED protein-coding ENSG00000073008 HGNC:9705 01434 173850 REVIEWED 7254296 PWARSN Prader Willi/Angelman region RNA, SNRPN neighbor 15 15 15 q11.2 3389136 3390932 + 25227141 25228937 + 24981994 24983790 + 11106375;12210318;15146197;7566098;8858349 347746 AA305049;ABBA01048688;AC124312;AMYH02030094;BX644997;CA867110;CN344240;NG_002690;NR_022011;U55937 Hs.733072 PAR-SN;PARSN ncrna HGNC:30001 VALIDATED 1323553 PUS1 pseudouridylate synthase 1 This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] 12 12 12 q24.33 132032281 132046846 + 132413745 132428406 + 131929200 131943861 + 1580863;6480464;7240710;8699517 10094309;12477932;15108122;15489334;15498874;15772074;16712791;16964243;17056637;17081983;18648068;19471022;19731322;20186120;20843780;21139048;22102571;22863883;22939629;22990118;22998747;24816145 80324 E5KMT5;E5KMT6;F5GXL3;F5GY32;F5H168;F5H1B2;F5H1S9;F8W9U5;G8JLB3;Q9Y606 ABBA01032798;AC131009;AF116238;AF318369;AI566545;AI884644;AK074659;AK292242;AMYH02027574;BC002901;BC009505;BC019320;BC035964;BG336824;BM923133;BX340929;CB118952;CH471054;CQ783543;HQ205066;HQ205067;HQ205068;HQ205069;HQ205070;HQ205071;HQ205072;HQ205073;HQ205074;HQ205075;HQ205076;HQ205077;HQ205078;HQ205079;HQ205080;HQ205081;HQ205082;HQ205083;HQ205084;HQ205085;HQ205086;HQ205087;HQ205088;HQ205089;HQ205090;HQ205091;HQ205092;HQ205093;HQ205094;HQ205095;HQ205096;HQ205097;HQ205098;HQ205099;HQ205100;HQ205101;HQ205102;HQ205103;HQ205104;HQ205105;NG_013039;NM_001002019;NM_001002020;NM_025215 AAD21042;AAH02901;AAH09505;AAH19320;AAL55876;ABM83888;ABM87208;ADP90494;ADP90495;ADP90496;ADP90497;ADP90498;ADP90499;ADP90500;ADP90501;ADP90502;ADP90503;ADP90504;ADP90505;ADP90506;ADP90507;ADP90508;ADP90509;ADP90510;ADP90511;ADP90512;ADP90513;ADP90514;ADP90515;ADP90516;ADP90517;ADP90518;ADP90519;ADP90520;ADP90521;ADP90522;ADP90523;ADP90524;ADP90525;ADP90526;ADP90527;ADP90528;ADP90529;ADP90530;ADP90531;ADP90532;ADP90533;ADP90534;ADP90535;ADP90536;ADP90537;ADP90538;ADP90539;ADP90540;ADP90541;ADP90542;ADP90543;ADP90544;ADP90545;ADP90546;ADP90547;ADP90548;ADP90549;ADP90550;ADP90551;ADP90552;ADP90553;ADP90554;ADP90555;ADP90556;ADP90557;ADP90558;ADP90559;ADP90560;ADP90561;ADP90562;ADP90563;ADP90564;ADP90565;ADP90566;ADP90567;ADP90568;ADP90569;ADP90570;ADP90571;ADP90572;ADP90573;BAF84931;BAG51983;CAF86716;EAW98530;EAW98531;EAW98532;EAW98533;NP_001002019;NP_001002020;NP_079491;Q9Y606 Hs.592004 1655198 RH44488 MGC11268;MLASA1 MLASA;OTTHUMP00000158623;OTTHUMP00000237726;OTTHUMP00000237727;OTTHUMP00000237728;mitochondrial tRNA pseudouridine synthase A;tRNA pseudouridine synthase A;tRNA pseudouridine synthase A, mitochondrial;tRNA pseudouridine(38-40) synthase;tRNA pseudouridylate synthase I;tRNA uridine isomerase I;tRNA-uridine isomerase I APPROVED protein-coding ENSG00000177192 HGNC:15508 10481 600462;608109 REVIEWED 1342546 PWCR1 Prader-Willi syndrome chromosome region 1 q11.2 11007541;11106375;11726556 63968 AC124312;AF241255;AF250841;NG_002690;NR_003106 Hs.658578 PET1 miscrna HGNC:13423 1605095 PWP1 PWP1 homolog (S. cerevisiae) INVOLVED IN transcription, DNA-templated (inferred); FOUND IN Golgi apparatus; nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; cadmium dichloride; cyclosporin A 12 12 12 q23.3 107745148 107771815 + 108079590 108106257 + 107685813 107712480 + 6480464 11790298;11850830;12477932;12777385;15302935;15761153;16565220;17079684;17081983;19295130;20028516;20211142;21139048;21145461;21832049;21906983;22586326;23667531;24239288;24250222;24457600;24778252;24816145;7828893;8125298;8895530 11137 B4DJV5;F8VZ56;Q13610 ABBA01053150;ABBA01053151;AC007622;AK223162;AK290681;AK296252;AK297961;AMYH02027146;AMYH02027147;BC000067;BC001652;BC010921;BC032127;BC040135;BC046144;CH471054;L07758;NM_007062;Z36804;Z36805 AAA65201;AAH00067;AAH01652;AAH10921;AAH32127;AAH40135;AAH46144;ABM83661;ABM86908;ABM87013;BAD96882;BAF83370;BAG58967;BAG60273;EAW97802;EAW97803;NP_008993;Q13610 Hs.506652 1736218;1848462;1855714;2142607 D12S1163E;SHGC-57379;STS-L07758;WI-7102 IEF-SSP-9502 OTTHUMP00000242457;OTTHUMP00000242460;OTTHUMP00000242461;endonuclein;keratinocyte protein IEF SSP 9502;nuclear phosphoprotein similar to S. cerevisiae PWP1;periodic tryptophan protein 1 homolog protein-coding ENSG00000136045 HGNC:17015 11464 PROVISIONAL 2303844 PWRN1 Prader-Willi region non-protein coding RNA 1 This gene is located in the Prader-Willi syndrome (PWS) region of chromosome 15, which is known to undergo imprinting. The transcript is believed to be non-coding. It is bi-allelically expressed in testis and kidney, but mono-allelically expressed from the paternal allele in brain. This gene is poly-adenylated and is known to undergo alternative splicing. Transcript variants may represent part of a complex imprinting center-SNURF-SNRPN transcription unit. The contribution of this gene to the PWS phenotype is unknown, but it has been suggested that it may play a role in establishing paternal imprinting in the PWS region, perhaps by maintaining the paternal allele in an open chromatin configuration. [provided by RefSeq, Sep 2009] 15 15 15 q11.2 2963214 2992602 + 24803304 24832927 + 24558157 24587780 + 6480464;8554872 12477932;17337158;19471314;20301505 791114 ABBA01048688;AC139147;AC139362;AMYH02030088;BC034815;HG506771;HG506773;HG506775;HG506776;HG506777;NG_016177;NR_026646 Hs.720900 FLJ25418;NCRNA00198 APPROVED ncrna ENSG00000259905 HGNC:33235 611215 REVIEWED 2303843 PWRN2 Prader-Willi region non-protein coding RNA 2 15 15 15 q11.2 2570102 2575229 - 24409924 24415095 - 24164779 24169906 - 12477932;17337158 791115 ABBA01048684;AC087474;AK124131;AMYH02030088;BC032951;BC070120;NR_026647 Hs.560378;Hs.742600 5127777 SHGC-147200 FLJ42137;NCRNA00199 ncrna HGNC:33236 611217 PROVISIONAL 1642916 PWWP2A PWWP domain containing 2A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH crotonaldehyde; formaldehyde; methyl methanesulfonate 5 5 5 q33.3 155534450 155578003 - 159502889 159546452 - 160075882 160119445 - 6480464;8554872 11572484;12477932;14702039;23752268 114825 H0YB44;H0YC06;H0YC08;Q96N64 AB067522;ABBA01044229;ABBA01044230;ABBA01044231;AC008706;AF173385;AI972512;AK055921;AMYH02012595;AMYH02012596;AMYH02012597;AMYH02012598;AV720552;BC018680;BC035076;BC039106;BC105110;BC143437;BI548991;CH471062;DB450981;KF458044;NM_001130864;NM_001267035;NM_052927;XM_005265807;XM_005265808;XM_005265809;XM_005265810;XM_005265811;XM_005265812;XM_005265813;XM_005265814;XM_006714817;XR_245271;XR_427800 AAH35076;AAI05111;AAQ13626;BAB67828;BAB71045;EAW61567;EAW61568;EAW61569;NP_001124336;NP_001253964;NP_443159;Q96N64;XP_005265864;XP_005265865;XP_005265866;XP_005265867;XP_005265868;XP_005265869;XP_005265870;XP_005265871;XP_006714880 Hs.744960 1655586;1674023;1699478;1781018;2170556;2183784;5093148 A009H27;G32548;RH103331;RH44794;RH45035;RH78084;bac5774S KIAA1935;MGC132770;MST101 MSTP101;OTTHUMP00000224235;OTTHUMP00000224237;OTTHUMP00000224238;PWWP domain-containing protein 2A protein-coding ENSG00000170234 HGNC:29406 VALIDATED 5129392 PWWP2AP1 PWWP domain containing 2A pseudogene 1 13 13 13 q31.1 62130657 62132904 + 81228890 81231137 + 80654755 80657002 + 100129459 ABBA01021706;AL390857;AMYH02028357;NG_011459 FLJ31359 pseudo HGNC:39709 INFERRED 1316105 PWWP2B PWWP domain containing 2B INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; cobalt dichloride 10 10 10 q26.3 128008481 128021704 - 134210702 134231363 + 132397198 132417859 + 6480464 12477932;14702039;15164054;15302935;15489334;22797925 170394 Q6NUJ5 ABBA01006183;AF318365;AK096940;AK128663;AL590105;AMYH02024072;AW166547;BC011630;BC068574;BG260395;CH471287;DB477789;NM_001098637;NM_138499;XM_006717659 AAH11630;AAH68574;AAL55872;EAW49120;NP_001092107;NP_612508;Q6NUJ5;XP_006717722 Hs.527751 1689280;1701012;1758241 RH104133;RH92607;SHGC-147770 FLJ39621;FLJ46823;PWWP2;RP11-273H7.1;bA432J24.1;pp8607 OTTHUMP00000020770;PWWP domain containing 2;PWWP domain-containing protein 2B protein-coding ENSG00000171813 HGNC:25150 11465 VALIDATED 1319897 PVRL3 poliovirus receptor-related 3 This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 3 3 3 q13 109190329 109252381 + 110790606 110913017 + 111071759 111194170 + 1580863;6480464;8554872 10225955;10744716;11024295;11544254;12011057;12438620;12477932;12515806;12759359;15489334;16216929;18084611;19011627;19913121;20628086;20633763;20634891;20876797;21139048;21769484;21906983;21982860;22926846;23824909;23898208;24116228;24386110;9845526 25945 C9IZE6;C9J795;C9JMW3;H7C4L0;H7C5G5;Q9NQS3 AA555086;ABBA01061673;ABBA01061674;ABBA01061675;AC133436;AC133477;AC137833;AF282874;AK075105;AL050071;AMYH02007428;AMYH02007429;AX411435;BC001336;BC017572;BC067808;BI464010;BQ025085;CH471052;JA738803;NG_029835;NM_001243286;NM_001243288;NM_015480;XM_005247321;XM_005247322;XR_427363 AAF97597;AAH01336;AAH17572;AAH67808;BAC11404;CAB43256;CAD35242;CCF77054;EAW79703;NP_001230215;NP_001230217;NP_056295;Q9NQS3;XP_005247378;XP_005247379 Hs.293917 1338834;1644908;1646005;1660616;1677064;1689105;1745995;2132575;2142274;2152151;2219582 D16S3395;D3S3921;D7S1804;PVRL3__5617;RH12011;RH125725;RH47398;RH93019;RH94030;SHGC-77178;STS-R78584 CD113;CDw113;DKFZp566B0846;FLJ90624;NECTIN-3;PPR3;PRR3;PVRR3 OTTHUMP00000214485;OTTHUMP00000214486;OTTHUMP00000214492;nectin 3;poliovirus receptor-related protein 3 APPROVED protein-coding HGNC:17664 08454 607147 REVIEWED 7249025 PWAR1 Prader Willi/Angelman region RNA 1 15 15 15 q11.2 3542753 3545164 + 25380789 25383200 + 25135642 25138053 + 11159938;17935246;20301505;20388375;21905006;22009534;22283974;22552271;22573325;23204166;23222541;23476015;7987392;8630505;9477342 145624 ABBA01048690;AC124303;AF019616;AMYH02030094;NG_002690;NG_021436;NR_022009 Hs.612027 D15S227E;PAR-1;PAR1 ncrna ENSG00000279050 HGNC:30089 600161 VALIDATED 1606718 PXDNL peroxidasin homolog (Drosophila)-like ENCODES a protein that exhibits heme binding (ortholog); peroxidase activity (ortholog); INVOLVED IN hydrogen peroxide catabolic process (ortholog); oxidation-reduction process (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular space (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); ciglitazone (ortholog) 8 8 8 q11.22-q11.23 48220418 48712670 - 52232137 52722005 - 51319577 51810650 - 6480464;8554872 12477932;14702039;16344560;16421571;18929642;20237496;20379614;20800603;21139048;21145461;22543864;23728617 137902 A1KZ92;H0YAV0;K4DIA6 ABBA01041688;ABBA01041689;ABBA01041690;ABBA01041691;ABBA01041692;AC011128;AC012413;AC090186;AC103958;AC107374;AI127081;AK058200;AK131524;AMYH02017960;AMYH02017961;AMYH02017962;AMYH02017963;AMYH02017964;AMYH02017965;AMYH02017966;AMYH02017967;AMYH02017968;AMYH02017969;AMYH02017970;AMYH02017971;AY877349;BC132813;CH471068;DB337228;EU170240;KJ545488;NM_144651;XM_005251167;XM_005251168;XM_006716420 A1KZ92;AAX70929;ABX24517;AHZ56584;BAB71713;BAD18663;EAW86707;EAW86708;NP_653252;XP_005251224;XP_005251225;XP_006716483 Hs.444882 1340504;1341936;1654195;1707118;1717833;1733574;1751499;1765813;1768439;1786752;2138271;2154415;2178580;5112217;7185143 D8S1097;D8S1622;D8S1773;D8S517;G32126;G32150;RH102382;RH121828;RH36241;RH69838;SHGC-105297;SHGC-149241;SHGC-155384;SHGC-81322 FLJ25471;PMR1;PRM1;VPO2 OTTHUMP00000226248;cardiac peroxidase;cardiovascular peroxidase 2;peroxidasin homolog-like;peroxidasin-like protein;polysomal ribonuclease 1;polysomal ribonuclease 1 homolog;vascular peroxidase 2 protein-coding ENSG00000147485 HGNC:26359 08693 615904 VALIDATED 1342516 PXE pseudoxanthoma elasticum ASSOCIATED WITH ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (inferred); Pseudoxanthoma Elasticum (inferred) 7240710 10585762;4841083 5823 HGNC:9712 177850;264800;614473 1348394 PXK PX domain containing serine/threonine kinase This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 3 3 3 p14.3 58333171 58424771 + 58318617 58411815 + 58332890 58426127 + 6480464;8554872 12477932;14702039;15489334;16135750;16142408;16344560;18029348;18204446;19225526;20086096;20379614;20453842;20829310;20848568;20881011;20962850;21243490;21890473;22592861;23740937;24097068;24390342 54899 B4DID9;B4DJD8;B4DJS8;C9IYJ2;E9PD56;F8WAW8;F8WDF7;H7BYG4;H7C4V0;H7C4W2;H7C529;Q7Z7A4;U3KQS4;W5RWE6;W5RX72 AB209688;ABBA01024385;ABBA01024386;ABBA01024387;ABBA01024388;ABBA01024389;AC098479;AC135507;AF399753;AK000342;AK124775;AK131385;AK295542;AK296034;AK296215;AL137938;AMYH02006887;AMYH02006888;AY274811;AY437879;AY847220;AY847221;AY847222;BC008943;BC014479;BC108670;BG613223;CH471055;DA296189;DQ124707;DQ124708;HY164612;KF774202;KF774203;KF774204;NM_001289095;NM_001289096;NM_001289098;NM_001289099;NM_001289100;NM_001289101;NM_017771;XM_005265250;XM_005265252;XM_005265255;XM_005265256;XM_006713213 AAH08943;AAH14479;AAI08671;AAK94455;AAP42076;AAR98521;AAX73352;AAX73353;AAX73354;AAZ38821;AAZ38822;AHG94944;AHG94945;AHG94946;BAA91097;BAD18536;BAD92925;BAG58451;BAG58800;BAG58940;EAW65368;EAW65369;EAW65370;NP_001276024;NP_001276025;NP_001276027;NP_001276028;NP_001276029;NP_001276030;NP_060241;Q7Z7A4;XP_005265307;XP_005265309;XP_005265312;XP_005265313;XP_006713276 Hs.190544 1645399;1700456;1706068;1720171;1725211;1735266;1767216;1852428;2111045;2163042;5092844 1178;A006J39;D3S1495E;D3S2922E;D3S3324;G32365;RH103849;RH118898;RH123996;SHGC-77030;SHGC-80069 FLJ20335 MONaKA;OTTHUMP00000214170;OTTHUMP00000214171;OTTHUMP00000214173;OTTHUMP00000214175;OTTHUMP00000214179;PX domain-containing protein kinase-like protein;PX ser/thr kinase v2;PX serine/threonine kinase;modulator of Na,K-ATPase long form APPROVED protein-coding ENSG00000168297 HGNC:23326 17936 611450 VALIDATED 7329723 PWAR6 Prader Willi/Angelman region RNA 6 15 25272883 25281637 + 12477932;14702039 100506965 AB061718;AC124312;AK090888;AK094315;AK096584;AL157455;BC043194;XR_110300;XR_133066 BAB69068 Hs.592473 HBT8;PAR-6 ncrna HGNC:49129 1322692 PXDC1 PX domain containing 1 ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; atrazine 6 6 6 p25.2 4951717 4981144 - 3722836 3752246 - 3722602 3752012 - 6480464 12477932;16344560;19322201 221749 H0Y3G1;Q5TGL8 ABBA01048610;ABBA01048611;AJ420534;AK024828;AK289598;AL033523;AL391422;AL832792;AMYH02013002;BC045715;BC056908;BG703675;CH471087;CK725197;DA164068;DB481678;NM_183373;XR_241883 AAH45715;AAH56908;BAF82287;CAI46167;EAW55141;NP_899229;Q5TGL8 Hs.484500 1668677;1718299;1740181;1762443;2149891;2182321 D4S2904;D6S1196E;RH122921;RH18375;RH48246;SHGC-146266 C6orf145 OTTHUMP00000015968;OTTHUMP00000015969;PX domain-containing protein 1;PX domain-containing protein C6orf145 APPROVED protein-coding ENSG00000168994 HGNC:21361 12854 VALIDATED 1347054 PXMP2 peroxisomal membrane protein 2, 22kDa FOUND IN cytoplasm; membrane; peroxisomal membrane; INTERACTS WITH aflatoxin B1; arsenous acid; cobalt dichloride 12 12 12 q24.33 132966844 132981555 + 133264192 133281577 + 132687606 132704991 + 1580863;6480464 10704444;11590176;12477932;16683188;18174172;19946888;21139048;8624723 5827 B4DX64;F5GXM0;F5GZF7;F5H4N4;Q9NR77 ABBA01012375;ABBA01012376;AC135586;AF250136;AMYH02027591;AY044439;BC009836;BC073997;CH471218;NM_018663 AAF73963;AAH09836;AAH73997;AAK95858;EAW54828;EAW54829;NP_061133;Q9NR77 Hs.430299 1698852 RH102991 FLJ54922;PMP22 22 kDa peroxisomal membrane protein;OTTHUMP00000237607;peroxisomal membrane protein 2 protein-coding ENSG00000176894 HGNC:9716 10176 VALIDATED 1348847 PXMP4 peroxisomal membrane protein 4, 24kDa FOUND IN peroxisomal membrane; peroxisome; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; arsenite(3-) 20 20 20 q11.22 29043230 29060852 - 32290550 32308136 - 33702744 33720330 - 1580863;6480464 10366717;10704444;11230166;11256614;11780052;12477932;14702039;14709540;15489334;17207965;21890473;23563607 11264 B4DWH1;Q9Y6I8 ABBA01019221;ABBA01019222;ABBA01019223;AF072864;AI985147;AK023879;AK128879;AK297018;AK301532;AK316589;AL050349;AL121906;AL136648;AMYH02036957;BC001147;BQ278083;CH471077;CR533471;DB495125;NM_007238;NM_183397 AAD43195;AAH01147;ACE86857;ACE87544;ADQ33215;BAG38177;BAG51232;BAG59550;BAG63033;CAB66583;CAG38502;EAW76298;NP_009169;NP_899634;Q9Y6I8 Hs.654857 1690033;2123318;2169629;2217880;5016478;5016596;5037552;5117897 A004T22;D8S2279;GDB:434012;GDB:631802;GDB:631813;PXMP4_3545;RH76543;STS-R36871 PMP24 24 kDa peroxisomal intrinsic membrane protein;OTTHUMP00000030669;OTTHUMP00000175038;OTTHUMP00000205443;peroxisomal membrane protein 4 protein-coding ENSG00000101417 HGNC:15920 10177 VALIDATED 1317740 PWP2 PWP2 periodic tryptophan protein homolog (yeast) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN signal transduction (inferred); PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; INTERACTS WITH 17beta-estradiol; cobalt dichloride; copper atom 21 21 21 q22.3 30632847 30656721 + 45527208 45551063 + 44107327 44131181 + 1580863;6480464;6907045;8554872 10830953;12429849;12477932;15489334;16169070;16341674;18029348;19615732;20020773;21139048;21145461;21252943;21890473;21906983;21907836;22053931;22178446;22586326;22678362;22939629;24163370;24457600;24816145;25011449;8661145;8889548;8893822;8973917;9196060;9205129 5822 C9J544;Q15269 AB001517;AB001523;AB209438;AI968015;AK314184;AMYH02037907;AP001753;BC013309;BC014988;BM457858;BM835826;BU683943;BX387451;BX452317;CH471079;KF457335;KF510567;NM_005049;U53346;U56085;U56089;X95263;X96424;X96425 AAB08084;AAC50904;AAC50905;AAH13309;AAH14988;BAA21100;BAA21137;BAA95553;BAD92675;BAG36865;CAA64560;CAA65284;CAA65285;EAX09458;NP_005040;Q15269 Hs.449076 1667187;1793948;2167898;2219584 PMC310701P1;PWP2H__5620;RH66476;RH70689 EHOC-17;PWP2H;UTP1 OTTHUMP00000109488;periodic tryptophan protein 2 homolog protein-coding ENSG00000241945 HGNC:9711 03279 601475 VALIDATED 6766637 PXN-AS1 PXN antisense RNA 1 12 12 12 120272226 120284303 + 120639094 120650631 + 120201291 120212828 + 100506649 ABBA01020098;ABBA01020099;ABBA01020100;AC004263;AI767458;AMYH02027364;AMYH02027365;AMYH02027366;CV808970;HG505243;HG505247;NR_038924 Hs.569205 1688476;1778418;2116473;2146608;2156931 A001T32;A007I44;RH36430;RH78308;STS-AA002185 EyeLinc4;RP1-278C19.3 APPROVED ncrna ENSG00000255857 HGNC:44123 VALIDATED 1349206 PXT1 peroxisomal, testis specific 1 INVOLVED IN positive regulation of apoptotic process (inferred); spermatogenesis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN peroxisome (ortholog); INTERACTS WITH (-)-demecolcine; ethyl methanesulfonate; formaldehyde 6 6 6 p21.31 37913002 37965730 - 36358328 36410666 - 36390551 36442889 - 6480464;8554872 12477932;18160785;20068295 222659 Q8NFP0 ABBA01038257;AF486827;AL133263;AL136135;AMYH02013554;BC031105;BC107049;CH471081;NM_152990;Z84484 AAH31105;AAI07050;AAN03789;EAX03891;NP_694535;Q8NFP0 Hs.520097 1659097;2219586 AL031215;PXT1__5622 MGC129569;STEPP OTTHUMP00000216603;OTTHUMP00000216611;peroxisomal testis-specific protein 1;small testis-specific peroxisomal protein protein-coding ENSG00000179165 HGNC:18312 17937 VALIDATED 1348372 PVT1 Pvt1 oncogene (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 5-fluorouracil; lead(0); lead(2+) 8 8 8 q24 124987142 125293818 + 128902874 129113499 + 127890628 128101253 + 6480464;8554872 12477932;14702039;16341674;17395743;17503467;17881614;17908964;19270707;19549893;20694011;21037568;21316338;21526116;2181290;21814516;21833088;22110125;22869583;23547836;23801869;23817571;23934736;24132900;24196785;24204837;24390342;24529757;2470097;24821155;25043044;2725491;3024964 5820 ABBA01037952;ABBA01037953;ABBA01037954;ABBA01037955;AC026248;AC084123;AC103705;AC103819;AK128687;AK129745;AMYH02018765;AMYH02018766;BC033263;BC041065;BM821521;BX648921;D79458;LN608280;LN608283;LN608285;M25803;M26714;M31519;M34428;M34429;M34430;M34431;NR_003367;X04620 Hs.133107;Hs.675281 1338602;1645919;1674414;1710162;1759473;1760641;1772938;1777654;1783524;1855362;2148637;2158496;5015404;5015605 AFMB299YE9;D11S2977;D8S1087;D8S1720;G17834;G31084;L17705;RH68431;SGC34443;SHGC-144185;SHGC-151203;SHGC-152351;SHGC-82342;STS-T95511 LINC00079;MGC21751;NCRNA00079 ncrna ENSG00000249859 HGNC:9709 165140 VALIDATED 7207291 PYCARD-AS1 PYCARD antisense RNA 1 16 16 31213206 31214773 + 31201885 31203452 + 100652740 I3L0S3 ABBA01042085;AC009088;AMYH02031843;BF508251;BX464768;NR_102400 I3L0S3 Hs.550659 C16orf98;PYCARDOS APPROVED ncrna ENSG00000261359 HGNC:45036 VALIDATED 1342803 PXYLP1 2-phosphoxylose phosphatase 1 ENCODES a protein that exhibits acid phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene 3 3 3 q23 139374122 139436924 + 140950682 141013486 + 141231825 141294903 + 1580863;6480464;8554872 12477932;12975309;19734545;20379614;22505724;24425863 92370 B7Z3R9;B7Z4T2;D6R928;D6RDP0;D6RE60;D6RGE3;E9PDB7;Q8TE99;Q9NT50;W0TR04 AB827640;ABBA01059048;ABBA01059049;AC022215;AC117383;AK074331;AK296292;AK297790;AK316121;AL137529;AMYH02007802;AY358460;BC035834;BC036701;BX647621;CA421956;CD101677;CH471052;CX762355;DC409719;EU794677;NM_001037172;NM_001282728;NM_152282;XM_005247903 AAH35834;AAH36701;AAQ88825;ACJ13731;BAB85053;BAH12305;BAH12668;BAH14492;BAO45795;CAB70793;EAW79007;EAW79008;EAW79009;NP_001032249;NP_001269657;NP_689495;Q8TE99;XP_005247960 Hs.657887 1773154;1784702;5113435 RH91992;SHGC-149506;STS-H57427 ACPL2;FLJ23751;HEL124;XYLP OTTHUMP00000217721;OTTHUMP00000217722;OTTHUMP00000217723;OTTHUMP00000217724;OTTHUMP00000217725;OTTHUMP00000217726;acid phosphatase-like 2;acid phosphatase-like protein 2;epididymis luminal protein 124;xylosyl phosphatase APPROVED protein-coding ENSG00000155893 HGNC:26303 08675 VALIDATED 7338743 PWRN3 Prader-Willi region non-protein coding RNA 3 15 15 q11.2 24689647 24696951 + 24441045 24451815 + 16344560 101928840 AA412395;ABBA01048687;AC139362;AMYH02030088;CX760876;DB060889;HG506767;XR_245831;XR_248079;XR_253342;XR_424584;XR_429491;XR_433058;XR_433059 Hs.451285;Hs.592019;Hs.630552 RP11-580I1.3 ncrna HGNC:49131 MODEL 1317303 PYCR1 pyrroline-5-carboxylate reductase 1 This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 17 17 17 q25.3 76494307 76499008 - 79890260 79895203 - 81932384 81937328 - 1580863;6480464;6907045;7240710;8554872;8699517 12477932;15231747;15489334;16344560;16730026;17207965;1730675;19576563;19648921;21139048;21145461;21204221;212173;21487760;21567914;21693764;21900206;21906983;21963094;21988832;22052856;22323290;22623428;22990118;23531708;23743200;23824909;24035636;24457600;24583282;24654937;25027693;2722838;6201483;6253048;6894153;8125298;8880459 5831 E2QRB3;J3KQ22;J3KSA9;J3KTA8;J3QKT3;J3QKT4;J3QL23;J3QL24;J3QL32;J3QLK9;J3QR88;J3QRZ0;P32322;Q8TBX0 AA026075;ABBA01019654;AC145207;AF218000;AK225879;AK297627;AL561248;AMYH02034146;AY513285;BC001504;BC022244;BC071842;CH471099;CR541769;DA521426;HQ154643;HQ154644;M77836;NG_023032;NM_001282279;NM_001282280;NM_001282281;NM_006907;NM_153824;XM_005256381;XM_006722286 AAA36407;AAG17242;AAH01504;AAH22244;AAH71842;AAT08038;ADQ32305;ADU15815;ADU15816;ADZ15790;BAG60002;CAG46568;EAW89717;EAW89718;EAW89719;EAW89720;EAW89721;EAW89722;EAW89723;EAW89724;EAW89725;EAW89726;NP_001269208;NP_001269209;NP_001269210;NP_008838;NP_722546;P32322;XP_005256438;XP_006722349 Hs.163451 2116301;2185079 D17S2144;RH78412 ARCL2B;ARCL3B;P5C;P5CR;P5CR 1;PIG45;PP222;PRO3;PYCR P5C reductase 1;mitochondrial pyrroline-5-carboxylate reductase 1;proliferation-inducing protein 45;pyrroline-5-carboxylate reductase 1, mitochondrial APPROVED protein-coding ENSG00000183010 HGNC:9721 01528 179035;612940;614438 REVIEWED 1605835 PYDC1 PYD (pyrin domain) containing 1 INVOLVED IN innate immune response; negative regulation of NF-kappaB transcription factor activity; negative regulation of protein kinase activity; PARTICIPATES IN NOD-like receptor signaling pathway; FOUND IN cytosol; IkappaB kinase complex; nucleus; INTERACTS WITH copper(2+) sulfate; (S)-nicotine (ortholog); 1,4-benzoquinone (ortholog) 16 16 16 p11.2 29069630 29070745 + 31227283 31228398 - 31215962 31217077 - 6480464;6907045 11166558;12153040;12477932;12656673;15489334;16403450;16905547;20516061;23519807 260434 Q8WXC3 ABBA01042085;AC009088;AF086332;AF454669;AF467809;AK313418;AMYH02031843;AY163727;BC105033;BC105035;CH471192;NM_152901 AAI05034;AAI05036;AAL58439;AAN03745;AAO23114;BAG36211;EAW52147;NP_690865;Q8WXC3 Hs.58314 1700724 RH103987 ASC2;POP1;PYC1 OTTHUMP00000163243;PAAD-only protein 1;pyrin domain containing 1;pyrin domain-containing protein 1;pyrin-domain containing protein 1;pyrin-only protein 1 protein-coding HGNC:30261 17938 615700 PROVISIONAL 1319273 PYCRL pyrroline-5-carboxylate reductase-like ENCODES a protein that exhibits identical protein binding (inferred); pyrroline-5-carboxylate reductase activity (inferred); INVOLVED IN L-proline biosynthetic process (inferred); oxidation-reduction process (inferred); proline biosynthetic process (inferred); PARTICIPATES IN arginine and proline metabolic pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper atom; copper(0); elemental selenium 8 8 8 q24.3 140996326 141002023 - 144686083 144691784 - 143603913 143609614 - 1580863;6480464;6907045;8554872 11591653;12477932;14702039;16344560;17207965;18854154;19615732;21139048;21145461;21906983;21963094;21988832;22863883;23000965;23455924;23585552;23718855;24778252;25027693;8125298 65263 B5MD87;F8WEI0;H0Y6C3;Q53H96 ABBA01005246;AC067930;AF086378;AK001500;AK023914;AK222685;AK225404;AK294615;AK295444;AK301225;AL833857;AMYH02018945;BC007993;CH471162;DA403767;DA629534;NM_023078;XM_005251029;XM_006725092 AAH07993;ADQ31885;BAB14721;BAD96405;BAG50927;BAG57798;BAG58383;BAG62798;CAD38716;EAW82223;EAW82224;EAW82225;NP_075566;Q53H96;XP_005251086;XP_006725155 Hs.165186 5037552 D8S2279 FLJ13852;P5CR 3 OTTHUMP00000211292;OTTHUMP00000211293;P5C reductase 3;pyrroline-5-carboxylate reductase 3;pyrroline-5-carboxylate reductase-like protein protein-coding ENSG00000104524 HGNC:25846 15196 VALIDATED 1607083 PXDN peroxidasin homolog (Drosophila) This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014] 2 2 2 p25 1683129 1795627 - 1635659 1748291 - 1631887 1744528 - 6480464;8699517;8554872 10441517;11103812;12023963;12477932;14702039;15146197;16344560;18929642;19590037;19724895;19851296;20198315;20379614;20800603;21798344;21820048;21907015;21988832;22157634;22268729;22526679;22982576;24163370;24250222;24939590;7959781;9039502 7837 C9J4I9;H7C1W1;H7C300;H7C3W2;Q92626 ABBA01003650;ABBA01003651;ABBA01012332;ABBA01012333;ABBA01012334;ABBA01012335;ABBA01012336;ABBA01012337;ABBA01012338;AC009471;AF200348;AK098167;AMYH02003178;AMYH02003179;BC009496;BC030834;BC041027;BC070119;BC098579;BG706125;BX348948;CH471053;CN359024;CN359026;D86983;DA551404;DA866300;EF090903;NG_034221;NM_012293;XM_005264707;XM_006711896 AAF06354;AAH09496;AAH98579;AAI40296;ABO25865;BAA13219;EAX01084;EAX01085;NP_036425;Q92626;XP_005264764;XP_006711959 Hs.332197 1655046;1655048;1686002;1695034;1848833;2107989;2139503;2153843;2162737;2170261 A006H28;D2S448_8764;G20812;G44731;RH16626;RH25436;RH46363;RH70454;RH91469;STS-W70089 COPOA;D2S448;D2S448E;KIAA0230;MG50;PRG2;PXN;VPO OTTHUMP00000199942;OTTHUMP00000199943;melanoma-associated antigen MG50;p53-responsive gene 2 protein;peroxidasin homolog;vascular peroxidase 1 APPROVED protein-coding ENSG00000130508 HGNC:14966 269400;605158 REVIEWED 2299013 PYDC2 pyrin domain containing 2 FOUND IN cytoplasm (inferred); nucleus (inferred) 3 3 3 q28 189607703 189607996 + 191178952 191179245 + 191461163 191461456 + 17178784;17339483;21362197 152138 Q56P42 ABBA01058317;AC073365;AMYH02008418;AY858112;NM_001083308 AAX54598;NP_001076777;Q56P42 Hs.690618 POP2;cPOP2 OTTHUMP00000225036;pyrin domain-containing protein 2;pyrin-only protein 2 protein-coding ENSG00000253548 HGNC:33512 615701 PROVISIONAL 1320768 PYCR2 pyrroline-5-carboxylate reductase family, member 2 This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] 1 1 1 q42.12 199298629 199303014 - 226107577 226112040 - 225919877 225924340 - 737633;6480464;6907045 12477932 14702039;15231748;15489334;16710414;16713569;17207965;17725712;18457437;19738201;20186120;20811636;21139048;21145461;21832049;21890473;22118674;22990118;23024808;24583282;24816145;25027693 29920 Q96C36 ABBA01009662;AF087859;AF151351;AK001508;AK291913;AL117348;AL834217;AMYH02002798;AW166558;BC014868;BC020553;BU538765;CH471098;HY044355;HY264354;NM_001271681;NM_013328 AAD34611;AAH14868;AAH20553;AAP97169;ADQ32281;BAF84602;BAG50929;CAD38899;EAW69761;EAW69762;EAW69763;EAW69764;EAW69765;NP_001258610;NP_037460;Q96C36 Hs.654718 1847373;1857053;2143014;2177657;5121718 164;D1S268E;RH64582;SHGC-35104;WI-20783 FLJ54750;P5CR 2;P5CR2 OTTHUMP00000035614;P5C reductase 2;pyrroline 5-carboxylate reductase isoform;pyrroline-5-carboxylate reductase 2 protein-coding ENSG00000143811 HGNC:30262 17939 REVIEWED 1352184 PYGBL phosphorylase, glycogen, brain-like 3346228 5835 HGNC:9724 736182 PYGB phosphorylase, glycogen; brain The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 25302440 25352386 + 25228706 25278648 + 25248058 25298012 + 1580863;1642822;2304109;6480464;6907045;8554872 11340058;1544539 10638593;11780052;12211109;12477932;12665801;15489334;16335966;17081983;17148452;17393985;19204726;19851296;19946888;20198315;20471030;20482380;20800603;21139048;21145461;21853274;21890473;21906983;21963094;21987572;22001757;22505724;22586326;22818785;22838188;22863883;22939629;23000965;23402259;24068962;24159190;24816145;25027693;2615594;3346228;3447179;7775103;8244401;9792273 5834 H0Y4Z6;P11216 AB209080;ABBA01048729;ABBA01048730;ABBA01048731;AF432222;AK299697;AK309036;AL121772;AMYH02036845;AMYH02036846;BC017045;BC030795;BQ433140;CH471133;J03544;NM_002862;U47025;XM_006723601 AAA59597;AAB60395;AAH17045;AAH30795;AAL99928;ABM85600;ABW03734;BAD92317;BAG61600;EAX10091;EAX10092;EAX10093;NP_002853;P11216;XP_006723664 Hs.368157 1679680;1686390;1690926;1725729 D20S589E;G62120;RH39023;RH76548 GPBB;MGC9213 OTTHUMP00000030488;brain glycogen phosphorylase;glycogen phosphorylase B;glycogen phosphorylase, brain form APPROVED protein-coding ENSG00000100994 HGNC:9723 00720 138550 REVIEWED 1602723 PYCARD PYD and CARD domain containing This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 29083777 29085221 + 31212807 31214097 - 31201486 31202776 - 5490211;5490210;6480464;6907045 19302047;20303873 10567338;10847592;11103776;11103777;11250163;11374873;11498534;11733524;11786556;11967258;12019269;12054656;12191486;12477932;12486103;12553049;12615073;12646168;12656673;12776200;12800194;12949795;14499617;14634131;14643031;14702039;14730312;14985395;15020601;15030775;15041718;15456791;15489334;15641782;15701651;16037825;16189514;16425203;16585594;16715133;16777061;16848908;16964285;16982856;17048097;17178784;17339483;17418785;17599361;17964261;17986858;18263805;18311798;18348116;18701507;18791131;18945969;19158675;19158676;19158679;19201894;19223547;19234215;19258216;19324871;19443857;19494289;19636848;19661336;19759015;19759850;20020448;20140741;20148899;20500518;20808838;20926535;21036703;21058222;21104989;21270336;21487011;21832064;21890473;22230750;22286270;22295065;22732093;22931929;22934972;23064206;23066025;23090995;23110696;23209292;23811549;23839215;24169962;24407287;24630722 29108 H3BP42;Q9ULZ3 AB023416;ABBA01042085;AC009088;AF184072;AF184073;AF255794;AF310103;AF384665;AK000211;AK314422;AMYH02031843;BC004470;BC013569;CH471192;NG_029446;NM_013258;NM_145182 AAF99665;AAG01187;AAG01188;AAG30286;AAH04470;AAH13569;AAK63850;ADZ15787;BAA87339;BAA91012;BAG37041;EAW52148;EAW52149;NP_037390;NP_660183;Q9ULZ3 Hs.499094 1752153;2217036 ASC_2735;SHGC-106097 ASC;CARD5;MGC10332;TMS;TMS-1;TMS1;hASC OTTHUMP00000163239;OTTHUMP00000163240;PYD and CARD domain-containing protein;apoptosis-associated speck-like protein containing a CARD;caspase recruitment domain protein 5;caspase recruitment domain-containing protein 5;target of methylation-induced silencing 1;target of methylation-induced silencing-1 APPROVED protein-coding ENSG00000103490 HGNC:16608 06020 606838 REVIEWED 1343524 PYGO2 pygopus family PHD finger 2 ENCODES a protein that exhibits chromatin binding (inferred); histone acetyltransferase regulator activity (inferred); histone binding (inferred); INVOLVED IN brain development (inferred); canonical Wnt signaling pathway (inferred); developmental growth (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH N,N-dimethylaniline; potassium dichromate; resveratrol 1 1 1 q21.3 128000527 128005283 - 154929502 154934258 - 154957026 154961782 - 1580863;6480464;8554872 11955446;11988739;12477932;14612447;14702039;15146197;15489334;15498874;16609037;16964243;17113272;17203217;18314487;19555349;20204459;20361361;20637214;20937768;22186018;22379092;22939629;23456637;23535732;23732668;23865714 90780 Q5T170;Q5T171;Q9BRQ0 ABBA01016724;AF289598;AF457208;AK090545;AK092389;AK095425;AL451085;AMYH02001935;BC006132;BC013725;BC032099;CH471121;CN260857;CQ897766;NM_138300 AAH06132;AAH13725;AAH32099;AAL55782;AAL91371;ABM84305;ABM86878;BAC03474;BAC03877;CAH69778;EAW53172;EAW53173;NP_612157;Q9BRQ0 Hs.533597 1651295;1680647;1847183;2110689;2171928 D7S2830;PYGO2_8120;RH70874;RH98253;STS-W05360 1190004M21Rik;FLJ33226 OTTHUMP00000035488;pygopus 2;pygopus homolog 2 APPROVED protein-coding ENSG00000163348 HGNC:30257 06065 606903 VALIDATED 1606702 PYHIN1 pyrin and HIN domain family, member 1 The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 q23.1 131971636 132017127 + 158901337 158946849 + 158930800 158977059 + 6480464;8554872 12477932;15122330;16344560;16479015;18247378;20379614;20595294;21804549 149628 Q6K0P9;X6RHR0 ABBA01016622;ABBA01016623;AK024890;AK308350;AL359753;AMYH02002008;AW518129;AY185344;AY185345;AY185346;AY185347;BC020822;BC073133;BC090944;BC114470;BC139741;CH471121;DB126431;DB188734;NG_029756;NM_152501;NM_198928;NM_198929;NM_198930;XM_005244930;XM_006711191 AAH20822;AAH90944;AAI39742;AAO67506;AAO67507;AAO67508;AAO67509;EAW52805;NP_689714;NP_945146;NP_945147;NP_945148;Q6K0P9;XP_005244987;XP_006711254 Hs.710248;Hs.745322 2135005 G16240 IFIX;MGC23885;RP11-520H16.1 OTTHUMP00000035198;OTTHUMP00000035199;OTTHUMP00000035200;OTTHUMP00000035201;interferon-inducible protein X;pyrin and HIN domain-containing protein 1 APPROVED protein-coding ENSG00000163564 HGNC:28894 09999 612677 REVIEWED 1353326 PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); INTERACTS WITH diazinon; 17alpha-ethynylestradiol (ortholog); 2,2,2-tetramine (ortholog) 10 10 10 q24.2 93879973 93911599 - 100143322 100174978 - 98383565 98415914 - 6480464 12477932;14702039;15164054;15489334;16385451;21900206;21931564;21988832;23251661;23281178;8125298 84795 Q8N2H3 ABBA01021778;AF461898;AK022259;AK074429;AK075265;AK123713;AK225637;AK295699;AL139243;AMYH02023622;AMYH02023623;BC006131;BC035712;BC050574;CH471066;DC361966;NM_032709;XM_006718045;XR_428725;XR_428726 AAH06131;AAQ04812;ABM84344;ABM87786;BAC11507;BAG58547;EAW49884;EAW49885;NP_116098;Q8N2H3;XP_006718108 Hs.238303 1337919;1678809;1679581;1758161;2150480;2162751;5014039;5015961;5022322 D11S2560;D15S1477;D21S1412;D22S1584;RH11263;RH47149;RH66641;RH92098;SHGC-147552 C10orf33;FLJ12197;FLJ23849;FP3420;MGC13047 OTTHUMP00000020249;pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 protein-coding ENSG00000119943 HGNC:23517 12572 VALIDATED 1605346 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; cobalt dichloride 12 12 12 p12.1 26745930 26779563 + 21590538 21624184 + 21437604 21471250 + 6480464;8554872 12477932;14702039;15252450;16189514;16344560;20379614;21832049;21890473;21906983;22939629;23000965;8889548 79912 B4DEW4;B5MDP1;H0YGU0;Q8WU10 ABBA01067968;ABBA01067969;AC006559;AK025681;AK095813;AK125461;AK293820;AK307710;AL832441;AMYH02026167;BC021662;BM980368;CH471094;DB041552;DQ786312;NM_024854;XM_006719153;XR_242902 AAH21662;BAB15214;BAG54200;BAG57225;CAH10632;EAW96428;EAW96429;EAW96430;EAW96431;EAW96432;EAW96433;NP_079130;Q8WU10;XP_006719216 Hs.709545 1679958;1687750;1688036;1688182;1688831;1690712;1698616;1725595;1744925;2187302 G62019;GDB:581119;RH102863;RH39709;RH39888;RH65497;RH68343;RH79569;RH80431;RH93629 FLJ22028 OTTHUMP00000240138;OTTHUMP00000240140;pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 protein-coding ENSG00000121350 HGNC:26162 07976 VALIDATED 6893022 PYURF PIGY upstream reading frame The product of this gene, which is well-conserved, is encoded by the same bicistronic transcript that encodes phosphatidylinositol glycan anchor biosynthesis, class Y, but the two proteins are unrelated. This gene represents the protein encoded by the upstream open reading frame, while the protein encoded by the downstream open reading frame is represented by GeneID:84992. [provided by RefSeq, Aug 2012] 4 4 q 89442129 89444952 - 88520978 88523801 - 6480464 14702039;15489334;16162815;18187620;8889548;9847074 100996939 Q96I23 ABBA01063554;AC083829;AK312082;AMYH02009697;BG706896;CB305903;CV812938;NM_032906 BAG35018;NP_116295;Q96I23 Hs.26136;Hs.743393 2132314 SHGC-59828 PREY PIGY upstream reading frame protein;protein preY, mitochondrial protein-coding ENSG00000145337 HGNC:44317 REVIEWED 1345281 PYY2 peptide YY, 2 (pseudogene) FOUND IN extracellular region (inferred) 17 17 17 q11 23415321 23416818 + 26553589 26555086 + 28226563 28228060 + 10756099;11825642;15855352;7831336 23615 Q9NRI6 ABBA01015062;AC061975;AF222904;AMYH02033218;CH471159;NR_003064 AAF73876;EAW51064;Q9NRI6 Hs.157195 2220638;5022869 PYY_s24;UniSTS:486951 APPROVED pseudo ENSG00000237575 HGNC:9749 07589 606637 PROVISIONAL 1625819 PYY3 peptide YY, 3 (pseudogene) ENCODES a protein that exhibits hormone activity (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); morphine (ortholog); trimellitic anhydride (ortholog) X X X p11.22 53989814 53990344 + 49920714 49921244 + 50156066 50156596 + 6480464 24302008 644059 Q5JQD4 ABBA01063325;AC235789;AL663118;AMYH02039358;NG_007615 APPROVED pseudo HGNC:31855 INFERRED 1348512 PYY peptide YY The protein encoded by this gene is proteolytically processed to release a peptide that inhibits pancreatic secretion and mobility in the gut. Rare variations in this gene could increase susceptibility to obesity. [provided by RefSeq, Jul 2010] 17 17 17 q21.1 38738148 38789925 - 42030101 42081837 - 43952738 44004469 - 1625281;1580863;6480464;7240710;8554872 17045646 10029457;10488139;10698177;11278902;11408607;11825640;11825641;11825649;11825650;11825653;11825654;11825655;11825656;12477932;12665544;14687084;15331560;15489334;15855352;15972581;15983231;15998659;16174724;16204364;16278259;16362815;16368708;16420657;16563563;16720664;16819834;16828127;16907966;17087952;17119001;17138722;17235527;17325259;17597642;17726080;17934448;17936861;18154642;18239577;18486583;18534636;18567824;18577758;18622237;18929607;18987287;19011469;19058789;19086053;19247279;19344792;19737911;19820027;19875990;19913121;20375207;20468064;20602615;20628086;20642810;21098684;21324568;21360523;21502892;21610227;21667426;21722955;22028819;22183081;22303574;22563842;22844422;22954902;22979996;23006423;23064014;23155335;23239758;23292145;23371976;23509106;23519462;23831742;24001751;24012997;24188711;2587421;2721879;2834384;3202875;3517149;3840109;7493937;7592911;7782089;8318545 5697 P10082 ABBA01028392;ABBA01028393;AC007993;AC023855;AMYH02033466;AMYH02033467;BC041057;CH471178;CR542129;D13897;D13899;D13902;L25648;NG_023338;NM_004160 AAA36433;AAH41057;BAA02997;BAA02998;BAA03000;BAA03002;CAG46926;EAW51644;EAW51645;EAW51646;NP_004151;P10082 Hs.169249 1686402;2136245;5022869;5494031 D17S1206;PYY_s24;RH80747;UniSTS:480767 PYY-I;PYY1 peptide tyrosine tyrosine;prepro-PYY 1643448;1643463;2289501;2289511 BW109_H;BW110_H;BW444_H;BW453_H APPROVED protein-coding ENSG00000131096 HGNC:9748 02869 600781;601665 REVIEWED 737329 PYGM phosphorylase, glycogen, muscle This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] 11 11 11 q12-q13.2 61840305 61854685 - 64513861 64528187 - 64746389 64760715 - 1599985;1599987;1599990;1599897;1599991;1599993;1580863;1642822;1642743;2304109;6480464;6907045;7240710;8554872;8699517 10498852;11340058;11692172;11804660;14618266;1544539;6449198;8769807;9633816 10382911;10382912;10417800;10590419;10681080;10714589;10899452;10949035;11168025;1150650;11706962;11749054;11983168;12031624;12398832;12477932;12549820;12640006;12804600;14662163;14702039;15489334;15979037;16083285;16154688;16523484;16671104;16786513;1701414;17324573;17353931;17404776;17630210;17719780;17915571;17994553;18468620;18808785;19251976;19433441;19472443;20301518;20360068;20957198;21658951;21768215;21802952;21880526;21890473;21906983;21963094;22337875;22608882;23000965;23653251;24722188;24816145;2703328;3447177;3466902;3840433;6797345;7603523;7744850;7958997;8316268;8535454;9506549 5837 P11217 ABBA01024147;AF066859;AJ572752;AK056607;AK057547;AK299376;AK299461;AK314474;AMYH02024941;AP001462;BC029305;BC126392;BC130514;BM987822;CH471076;M16013;M32598;NG_013018;NM_001164716;NM_005609;U94774;U94777;X03031 AAA36216;AAA60231;AAC17451;AAC52081;AAI26393;AAI30515;ADR83429;BAG37079;BAG51762;BAG61366;BAG61428;CAA26834;EAW74284;EAW74285;NP_001158188;NP_005600;P11217 Hs.154084 1689494;1742535;1800076;1802398;1803624;1803626;1807070;1808570;1809994;1815296;1824856;1825410;1826390;1827638;1833348;1837284;1837330;1842176;1843082;1845186;1970812;1970814;1970816;1970818;1970820;1970822;1970824;1970826;1970828;1970830;1970832;1970834;1970836;1970838;1970840;1970842;1970844;1970846;1970848;1970850;1970852;1970854;1970856;1970858;1970860;1970862;1970864;1970866;1970868;1970870;1970872;1970874;1970876;1970878;1970880;1970882;1970884;1970886;1970888;1970890;1970892;1970894;1970896;1970898;1970900;1970902;1970904;1970906;1970908;1970910;1970912;1970914;1970916;1970918;1970920;1970922;1970924;1970926;1970928;1970930;1970932;1970934;1970936;1970938;2151267;2177141;2214880;2214882;2214884;5118444 D11S3316;D11S4627;ECD00893;ECD02084;ECD02718;ECD02719;ECD04500;ECD05267;ECD05989;ECD08684;ECD13527;ECD13812;ECD14309;ECD14939;ECD17817;ECD19809;ECD19832;ECD22291;ECD22749;ECD23810;G33090;GDB:197858;REN56289;REN56290;REN56291;REN56292;REN56293;REN56294;REN56295;REN56296;REN56297;REN56298;REN56299;REN56300;REN56301;REN56302;REN56303;REN56304;REN56305;REN56306;REN56307;REN56308;REN56309;REN56310;REN56311;REN56312;REN56313;REN56314;REN56315;REN56316;REN56317;REN56318;REN56319;REN56320;REN56321;REN56322;REN56323;REN56324;REN56325;REN56326;REN56327;REN56328;REN56329;REN56330;REN56331;REN56332;REN56333;REN56334;REN56335;REN56336;REN56337;REN56338;REN56339;REN56340;REN56341;REN56342;REN56343;REN56344;REN56345;REN56346;REN56347;REN56348;REN56349;REN56350;REN56351;REN56352;RH93814;stSG635664;stSG635665;stSG635666 OTTHUMP00000069755;OTTHUMP00000069756;glycogen phosphorylase, muscle form;muscle glycogen phosphorylase;myophosphorylase;phosphorylase, glycogen, muscle (McArdle syndrome, glycogen storage disease type V) APPROVED protein-coding ENSG00000068976 HGNC:9726 01986 232600;608455 REVIEWED 734380 QDPR quinoid dihydropteridine reductase This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008] 4 4 4 p15.31 17953005 17978851 - 17488016 17513857 - 17486393 17512234 - 1580863;1601577;1300048;4139904;5128580;5128601;5128581;5128598;6480464;6907045;7240710;8554872;8699517 17366478;19342614;19743417;2116088;2359144;2758679 10408783;11076863;11153907;11256614;11461190;1160969;11937441;12477932;14718574;15009710;15174051;15489334;15489336;16341674;16381901;17188538;18425437;18444252;19027726;19056867;19405953;19491146;19674121;20201926;20379614;20468064;20471030;20877624;21139048;21145461;21239886;21565611;22020936;2330583;3031582;3033643;3587329;3666748;3711039;3718470;6746636;6797415;7627180;8125298;8137944;8262916;8326489;9427141;9744478 5860 B7Z415;D6RGG7;D6RHJ7;H0Y8F7;P09417 AB053170;ABBA01032608;AC006160;AC093600;AJ006239;AK124382;AK223437;AK289773;AK296622;AMYH02008822;AW104747;BC000576;BM762805;CH471069;M16447;NG_008763;NM_000320;X04882;XR_241677 AAA52305;AAH00576;ABM82852;ABM86039;BAB20429;BAD97157;BAF82462;BAG54033;BAH12401;CAA06930;CAA28571;CAL38594;EAW92774;EAW92775;EAW92776;EAW92777;EAW92778;NP_000311;P09417 Hs.75438 1725589;1741565;1762051;2115924 G62087;GDB:181534;SHGC-145965;SHGC-59578 DHPR;FLJ42391;HDHPR;PKU2;SDR33C1 6,7-dihydropteridine reductase;OTTHUMP00000158671;OTTHUMP00000217799;OTTHUMP00000217800;OTTHUMP00000217802;OTTHUMP00000217914;OTTHUMP00000217915;dihydropteridine reductase;short chain dehydrogenase/reductase family 33C, member 1 APPROVED protein-coding ENSG00000151552 HGNC:9752 02025 261630;612676 REVIEWED 1313984 PXN paxillin This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011] 12 12 12 q24.31 120281352 120336672 - 120648242 120703574 - 120210439 120265771 - 1580863;2300344;6480464;6484113;6907045 16493410 10080957;10082579;10085298;10092539;10330411;10400685;10417825;10455189;10604475;10625692;10655584;10675325;10749932;10753828;10804218;10840040;10896954;10925297;10938112;10980697;11035932;11036077;11096073;11113628;11134073;11181995;11251077;11278335;11304546;11337490;11463817;11477105;11514617;11533025;11577104;11598204;11683411;11694518;11695992;11704675;11759057;11774284;11779709;11784715;11805099;11820787;11825902;11857088;11919182;11928806;11950600;12006652;12033289;12118253;12149250;12153727;12198159;12234367;12477932;12629171;12639940;12686598;12794117;12837751;12853963;12861019;12941817;14523024;14585963;14627618;14636584;14688263;14699151;14702039;14970194;15023529;15107421;15155793;15175910;15191880;15242880;15252114;15574420;15592455;15652337;15652490;15719014;15770719;15793570;15817476;15870699;15951569;16040804;16094384;16212419;16212439;16341674;16344560;16365170;16537926;16541075;16552730;16600665;16628223;16636290;16936772;16964243;17081983;17082770;17187346;17233630;17298394;17449030;17462669;17513457;17574549;17868650;18045996;18078823;18172305;18327407;18380937;18449907;18508764;18632638;18664639;18676874;18713649;18813807;18818208;18940607;18986306;19082453;19151925;19167335;19353596;19358827;19401330;19481075;19492042;19615356;19642098;19738201;19817696;19917054;20097761;20127017;20133777;20136697;20210243;20369478;20395438;20525696;20628053;21042764;21043826;21084488;21139048;21148292;21270128;21270398;21486952;21614903;21617717;21632544;21703394;21757638;21763488;21868260;21900245;21906983;21940355;21988832;22017400;22075845;22094095;22095445;22194823;22203672;22293201;22362758;22481092;22684108;22700880;22728435;22761432;22833565;22863883;22869380;22893698;22939629;22959909;23000965;23076140;23119100;23128389;23209645;23209815;23275153;23317503;23389630;23588386;23792636;23797058;24061591;24180516;24193434;24344012;24639526;24654937;24706358;25070956;7493940;7525621;7529872;7534286;7657702;8609175;8641358;8810278;8922390;8978305;8986614;9054445;9099734;9230116;9422762;9442086;9488700;9497381;9590268;9603926;9621077;9658172;9756887;9759889;9785458 5829 F5GZ78;F5H836;F8VZ39;F8W0G0;F8W0K8;F8W1E0;H0YIE4;P49023 AA922640;AB209034;ABBA01020100;ABBA01020101;AC004263;AK026695;AK122964;AK128712;AK298057;AK299486;AK314204;AMYH02027366;BC003647;BC006840;BC010498;BC015217;BC052611;BC136787;BC136794;BC144410;BM742662;BU500419;BX648777;CH471054;D86862;D86863;DA105135;DA565031;DB472926;NG_029820;NM_001080855;NM_001243756;NM_002859;NM_025157;U14588;U87946;XM_005253910;XM_005253912;XM_005253913;XM_005253914;XM_005253915;XM_005253916;XM_005253917;XM_006719531;XM_006719532;XM_006719533;XM_006719534;XM_006719535;XM_006719536;XM_006719537;XM_006719538;XM_006719539;XR_243019 AAC05175;AAC50104;AAD00648;AAH03647;AAH52611;AAI36788;AAI36795;AAI44411;BAA18997;BAA18998;BAB15529;BAC87586;BAD92271;BAG36880;BAG53822;BAG60351;BAG61448;CAI46024;EAW98175;EAW98176;EAW98177;EAW98178;EAW98179;NP_001074324;NP_001230685;NP_002850;NP_079433;P49023;XP_005253967;XP_005253969;XP_005253970;XP_005253971;XP_005253972;XP_005253973;XP_005253974;XP_006719594;XP_006719595;XP_006719596;XP_006719597;XP_006719598;XP_006719599;XP_006719600;XP_006719601;XP_006719602 Hs.446336 1338015;1688476;1746559;1778418;2146608;2156931;5015961;5022322 A001T32;D11S2560;D12S1721;D15S1477;G64568;RH36430;RH78308;STS-AA002185 FLJ16691 OTTHUMP00000240291;OTTHUMP00000240317;OTTHUMP00000240326;OTTHUMP00000240327 APPROVED protein-coding ENSG00000089159 HGNC:9718 269400;602505 REVIEWED 1346093 PYGO1 pygopus family PHD finger 1 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN hematopoietic progenitor cell differentiation (inferred); kidney development (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; amiodarone 15 15 15 q21.3 32726797 32769567 - 55836805 55881050 - 55538884 55588852 - 1580863;6480464;8554872 11955446;11988739;14612447;14702039;18498752;20403915;20467438;20936779;23455924 26108 Q9Y3Y4 ABBA01039020;ABBA01039021;AC012378;AC022083;AF457207;AK055370;AK095540;AL049925;AL833463;AMYH02030492;CH471082;CQ897768;EF625686;NM_015617;XM_005254300 AAI41425;AAI46573;AAL91370;ABU93489;CAB43209;CAH69779;EAW77492;NP_056432;Q9Y3Y4;XP_005254357 Hs.256587;Hs.87194 DKFZp547G0910 OTTHUMP00000162854;pygopus 1;pygopus homolog 1;pygopus-like protein 1 APPROVED protein-coding ENSG00000171016 HGNC:30256 06064 606902 VALIDATED 735639 QPCT glutaminyl-peptide cyclotransferase This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq, Jul 2008] 2 2 2 p22.2 37412695 37441406 + 37571742 37600465 + 37344610 37373322 + 704349;1580863;6480464;8554872 7999256 11551224;12196024;12477932;14522962;14680951;15231017;15489334;16135565;17207965;17334644;17687619;18072935;18470930;18486145;19804409;20383514;21145461;21288892;21301857;21666788;21671571;21906983;22569225;23183267;23207485;23974872;24292274;3597387 25797 B5MCZ9;C9JS14;Q16769 AB062487;ABBA01074981;AC007391;AK290605;AMYH02003616;BC015460;BC020456;BC036721;BC047756;BF970452;BI755122;CH471053;NM_012413;X67731;X71125 AAH36721;AAH47756;AAY14804;ADQ33105;BAB93512;BAF83294;CAA47961;CAA50438;EAX00392;EAX00393;EAX00394;EAX00395;EAX00396;EAX00397;NP_036545;Q16769 Hs.79033 1648989 A002E27 EC;GCT;QC;sQC OTTHUMP00000126955;OTTHUMP00000201838;glutaminyl cyclase;glutaminyl-peptide cyclotransferase (glutaminyl cyclase);glutaminyl-tRNA cyclotransferase;glutamyl cyclase APPROVED protein-coding ENSG00000115828 HGNC:9753 06140 607065 REVIEWED 736140 PZP pregnancy-zone protein ENCODES a protein that exhibits endopeptidase inhibitor activity (inferred); serine-type endopeptidase inhibitor activity (inferred); INVOLVED IN female pregnancy (inferred); negative regulation of endopeptidase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN blood microparticle; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; arsenous acid 12 12 12 p13-p12.2 10838556 10898105 - 9301436 9360966 - 9148840 9208370 - 1580863;6480464;8554872 11811950;12477932;14718574;16335952;16344560;1692292;1702714;17257854;19105203;1989698;20379614;20708005;21879768;23251661;2415522;2462561;2476433;2478422;2692707;6209714;7513640;8620037;8662763;9344465 5858 F5GXY0;P20742 ABBA01012257;AC010175;AK302259;AK308724;AK313639;AMYH02025998;BC111756;CH471116;DB040351;M24416;NM_002864;X51541;X54380 AAA60234;AAI11757;BAG36397;BAH13658;CAA35919;CAA38255;EAW88588;EAW88589;NP_002855;P20742 Hs.707491 1695104;1721165;1742895;1743997;1746987;2170062;5094292 D12S1257;G48191;G54693;G59418;G64018;GDB:214828;GDB:384758 CPAMD6;MGC133093 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 6;OTTHUMP00000206936;pregnancy zone protein protein-coding ENSG00000126838 HGNC:9750 07178 176420 VALIDATED 1350934 QPCTL glutaminyl-peptide cyclotransferase-like ENCODES a protein that exhibits glutaminyl-peptide cyclotransferase activity; zinc ion binding; INVOLVED IN peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase; ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus; membrane; INTERACTS WITH diazinon; pirinixic acid; 17alpha-ethynylestradiol (ortholog) 19 19 19 q13.32 43001866 43013375 + 46195741 46207248 + 45692483 45703990 + 6480464;8554872 12477932;15342556;15782160;17353931;18486145;19167051;19946888;20020773;20462248;20467438;20935630;21150319;21832049;21953277;22268729;22344219;22589738;23438482;24250222;24457600;24778252;8125298 54814 K7EQG1;Q9NXS2 ABBA01040942;ABBA01040943;ABBA01040944;ABBA01040945;AC007191;AK000091;AK172764;AK222636;AMYH02036207;BC011553;BP216511;BU927708;CH471126;NM_001163377;NM_017659 AAH11553;BAA90938;BAD18747;BAD96356;EAW57375;EAW57376;NP_001156849;NP_060129;Q9NXS2 Hs.631556 5014051;5015619;5022450;5037552;5109283;5118444 D10S275;D11S3114;D11S3316;D1S1431;D8S2278;D8S2279 FLJ20084;gQC glutaminyl cyclase-like;glutaminyl-peptide cyclotransferase-like protein;golgi-resident glutaminyl-peptide cyclotransferase;isoQC protein-coding ENSG00000011478 HGNC:25952 08612 VALIDATED 1346181 QARS glutaminyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 3 3 3 p21.31 49090328 49099123 - 49133365 49142562 - 49095932 49105129 - 1580863;6480464;8554872;8699517 10393422;10791971;10801842;10913161;11096076;11714285;12477932;14667819;14702039;15231748;15489334;15592455;16055448;16169070;16189514;1651330;18029348;18457437;19738201;21081666;21139048;21145461;21319273;21832049;21900206;21906983;21963094;21987572;21988832;22053931;22190034;22223895;22505724;22659028;22863883;22939629;23000965;23125841;23862649;24003230;24255178;24457600;24654937;24656866;24816145;25027693;8052601;8078941;8125298;8188258;8449960;9278442;9878398 5859 B7Z840;C9J165;C9JSG9;F2Z2V6;H7C0R3;P47897 ABBA01024612;AC135506;AF130067;AK056815;AK222510;AK290523;AK293260;AK297987;AK300220;AK301559;AK302867;AMYH02006741;AMYH02006742;BC000394;BC001567;BC001772;BC016634;BC029739;BM560535;CH471055;DC403423;JN104585;NM_001272073;NM_005051;NR_073590;X76013 AAG35495;AAH00394;AAH01567;AAH01772;AAH16634;AAH29739;ADZ15511;AFK13121;BAD96230;BAF83212;BAG56792;BAG60295;BAG61988;BAG63054;BAH13826;CAA53600;EAW64952;EAW64953;EAW64954;NP_001259002;NP_005042;P47897 Hs.79322 2121084;5106407 RH78464;SHGC-76928 GLNRS;MSCCA;PRO2195 OTTHUMP00000210569;OTTHUMP00000210572;glutamine tRNA ligase;glutamine--tRNA ligase;glutamine-tRNA synthetase APPROVED protein-coding ENSG00000172053 HGNC:9751 07223 603727;615760 REVIEWED 1606909 QRFP pyroglutamylated RFamide peptide The P518 precursor protein can be processed into several RF (arg-phe)-amide peptides, including P518. RF-amide peptides share a common C-terminal motif and are involved in cell signaling through G protein-coupled receptors (Jiang et al., 2003 [PubMed 12714592]).[supplied by OMIM, Mar 2008] 9 9 9 q34.12 104307102 104307512 - 133768815 133769225 - 130893428 130893838 - 6480464 12477932;12714592;12960173;14657341;15489334;15808908;15891009;16754659;16899066;20534693;22466335;22863147 347148 P83859;Q495K5 AB109625;ABBA01012067;AL161733;AMYH02021776;AY438326;BC101127;BC101128;NM_198180 AAI01128;AAI01129;AAR24354;ACE87775;ACT64441;BAC98934;NP_937823;P83859 Hs.660704 1793852;1793854;2220454 PMC299975P1;PMC299975P2;UniSTS:482727 26RFa;MGC119794;P518;RP11-618A20.5 OTTHUMP00000162441;P518 precursor protein;QRFP {ECO:0000312|EMBL:BAC98934.1};RF(Arg-Phe)amide family 26 amino acid peptide (P518);orexigenic neuropeptide QRFP;prepro-QRFP APPROVED protein-coding ENSG00000188710 HGNC:29982 17813 609795 VALIDATED 1351393 QRFPR pyroglutamylated RFamide peptide receptor ENCODES a protein that exhibits G-protein coupled receptor activity; INVOLVED IN G-protein coupled receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH arsenite(3-); fonofos; parathion 4 4 4 q27 119634941 119687269 - 122249797 122302181 - 121328642 121381026 - 1580863;6480464;8554872 11574155;12477932;12714592;12960173;15717329;16344560;16648250;16754659;20534693 84109 F2Z3L3;J3KNR3;Q96P65 AB109629;ABBA01044724;AC093816;AC093867;AK309337;AMYH02010008;AMYH02010009;BC128132;BC128133;BG169612;CH471056;DA461055;JF810892;NM_198179 AAI28134;AEP43759;BAC98938;EAX05261;EAX05262;NP_937822;Q96P65 Hs.368977 1683627;1764491;2146106;5021872 G20706;RH41058;SHGC-148097;sY3084 AQ27;GPR103;MGC149217;SP9155 G protein-coupled receptor 103;G-protein coupled receptor 103;OTTHUMP00000164030;OTTHUMP00000219822;QRFP receptor;orexigenic neuropeptide QRFP receptor APPROVED protein-coding HGNC:15565 09494 606925 VALIDATED 1604772 QRICH2 glutamine rich 2 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH quercetin; mono(2-ethylhexyl) phthalate (ortholog); sodium dichromate (ortholog) 17 17 17 q25.1 70864059 70897674 - 74270130 74304771 - 76274049 76308690 - 6480464;8554872 11230166;12477932;17353931;23263486 84074 E9PPH7;H0YDB9;H7C0E3;Q9H0J4 ABBA01028748;ABBA01028749;AC015801;AC090699;AK058102;AL136774;AMYH02034008;AMYH02034009;BC131559;CH471099;NM_032134;XM_005257728;XM_006722136 AAI31560;ACE86846;ACE87533;BAB71667;CAB66708;EAW89384;EAW89385;NP_115510;Q9H0J4;XP_005257785;XP_006722199 Hs.252739 1657676;2173523 D17S2113;SHGC-57472 DKFZP434P0316 OTTHUMP00000236206;glutamine-rich protein 2 protein-coding ENSG00000129646 HGNC:25326 10891 PROVISIONAL 731803 PYGL phosphorylase, glycogen, liver This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011] 14 14 14 q21-q22 31238983 31278301 - 51371935 51411248 - 50905217 50944530 - 1582633;1599374;1601233;1580863;1300048;1642822;2304109;1642743;6480464;6907045;7240710;8554872;8699517 11340058;15138155;1544539;16125296;6449198;9536091 10949035;10980448;11093832;12204691;12477932;14684825;15223230;15489334;16196087;16344560;17081983;17705025;18029348;19615732;20301760;20379614;20800603;21139048;21853274;21890473;21903422;21906983;21963094;21987572;21988832;22053931;22586326;22863883;23000965;23007406;23125841;24132900;24250222;24654937;24816145;25027693;25036637;2877458;2883891;3509980;8125298;9529348 5836 E9PK47;P06737 AA523002;ABBA01018146;ABBA01018147;AF046785;AF046798;AF066858;AK225904;AK300580;AK309333;AK313206;AL134906;AL358334;AMYH02029172;AMYH02029173;AY429567;BC009895;BC065011;BC082229;BC095850;BC110791;CH471078;DA287767;M14636;M36807;NG_012796;NM_001163940;NM_002863;Y15233 AAA35906;AAA52577;AAC17450;AAC18079;AAC23504;AAH09895;AAH65011;AAH82229;AAH95850;AAI10792;BAG36022;BAG62279;CAA75517;EAW65685;EAW65686;EAW65687;NP_001157412;NP_002854;P06737 Hs.282417 1666628;1689785;1762691;1764483;1772117;1772559;1848114;2109717;2133293;2135477;2177975;5122319;7185470 A008Q22;AF046786;D12S2025;D14S952;HUM000S289;PYGL_8579;RH44709;RH98538;SGC33612;SHGC-146483;SHGC-148088;WI-18152 GSD6 OTTHUMP00000233649;OTTHUMP00000233651;glycogen phosphorylase, liver form;liver (Hers disease, glycogen storage disease type VI);liver glycogen phosphorylase;phosphorylase, glycogen APPROVED protein-coding ENSG00000100504 HGNC:9725 01987 232700;613741 REVIEWED 1606541 QRICH1 glutamine-rich 1 INVOLVED IN regulation of apoptotic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; diazinon; genistein 3 3 3 p21.31 49023864 49088466 - 49067140 49131504 - 49029709 49094071 - 6480464;8554872 12477932;14702039;15231748;15489334;16713569;19471022;21139048;21252943;21693764;21890473;21906983;21963094;21987572;22863883;24816145 54870 A1L3Z9;C9JAL2;C9JIA8;Q2TAL8 ABBA01024612;ABBA01024613;ABBA01024614;ABBA01024615;ABBA01024616;ABBA01024617;ABBA01024618;AC135506;AC137630;AK000266;AK022524;AK025013;AK074313;AK093259;AK124205;AK292536;AMYH02006735;AMYH02006736;AMYH02006737;AMYH02006738;AMYH02006739;AMYH02006740;AMYH02006741;AW673597;BC000978;BC098375;BC110855;BC130340;BC130342;BI459089;CH471055;NM_017730;NM_198880;XM_005265248;XM_006713212 AAH00978;AAH98375;AAI10856;AAI30341;AAI30343;ADR83401;BAA91042;BAB14076;BAB85047;BAF85225;EAW64948;EAW64949;EAW64950;EAW64951;NP_060200;NP_942581;Q2TAL8;XP_005265305;XP_006713275 Hs.297389 1681099;1690932;1718313;2111374;2111872;2157349 D3S2759E;D3S4029;G16539;RH122928;RH80406;RH93145 FLJ20259;MGC131838 OTTHUMP00000210558;OTTHUMP00000210559;OTTHUMP00000210560;glutamine-rich protein 1 protein-coding ENSG00000198218 HGNC:24713 13372 VALIDATED 5686995 QRSL1P1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 1 1 1 1 q24.2 141528741 141530381 - 168418914 168420554 - 168449676 168451316 - 730016 ABBA01047231;AL022100;AL023755;AMYH02002107;NG_009546 1337679;1686136;1701258;1769066;1855850;2118268;2120231;2124145;2141837;5094783 AFM126yd8;AL009445;AL009697;D1S433;RH104257;RH68838;RH68875;SHGC-1539;SHGC-75876;TATC028 pseudo HGNC:43667 INFERRED 1321139 QPRT quinolinate phosphoribosyltransferase This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 73086675 73105568 - 29690334 29709324 + 29679042 29698003 + 1580863;6480464;6907045 10721107;12477932;14704851;15489334;16189514;17868694;19321014;21139048;21963094;21988832;22505724;23000965;24038671;24722188;3409840;9473669 23475 C9JCJ5;H3BP73;Q15274;V9HWJ5 ABBA01013120;ABBA01013121;ABBA01013122;AC009086;AC009133;AC023831;AC243806;AK293195;BC005060;BC010033;BC018910;BG748194;BT007231;CH471238;D78177;EU794638;KJ534923;NM_014298;XM_005255223 AAH05060;AAH10033;AAH18910;AAP35895;ACJ13692;AHW56563;BAA11242;BAG56735;EAW80014;NP_055113;Q15274;XP_005255280 Hs.513484 1767061 G24528 HEL-S-90n OTTHUMP00000123405;QAPRTase;QPRTase;epididymis secretory sperm binding protein Li 90n;nicotinate-nucleotide pyrophosphorylase;nicotinate-nucleotide pyrophosphorylase (carboxylating);nicotinate-nucleotide pyrophosphorylase [carboxylating] APPROVED protein-coding HGNC:9755 06950 606248 REVIEWED 5686994 QRSL1P2 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 2 1 1 1 195655049 195656011 - 222435175 222436137 - 222261833 222262795 - 100422330 ABBA01048058;AL356108;AMYH02002747;NG_027044 2130478 AL009973 pseudo HGNC:43668 INFERRED 5686993 QRSL1P3 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 3 14 14 14 16098883 16100182 + 36235017 36236316 + 35765811 35767110 + 100422374 ABBA01061508;AL137818;AMYH02029012;NG_027348 pseudo HGNC:43669 INFERRED 4888879 QTRT1P1 queuine tRNA-ribosyltransferase 1 pseudogene 1 X X X 113608801 113609820 + 113125930 113126949 + 113882647 113883666 + 100420656 ABBA01042997;AC003014;AC236668;AMYH02040259;NG_026873 pseudo HGNC:39179 INFERRED 69035 QSOX1 quiescin Q6 sulfhydryl oxidase 1 This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q24 153231536 153274744 + 180123968 180169430 + 180154833 180198034 + 1580863;6480464 10542195;10708601;12176051;12477932;12975309;14702039;15302935;15489334;16335952;16710414;16712791;16713569;16751776;16806532;17331072;17944490;18393449;19795908;20211621;21148546;21906983;21988832;21989104;22069028;22582951;22801504;23460839;23568457;23704371;23713614;24008827;8396966;9878249 5768 A8MXT8;H0Y5Z8;O00391;Q13876 AB209280;ABBA01027797;ABBA01027798;ABBA01027799;AF361868;AK092177;AK290842;AK290887;AL390718;AMYH02002240;AY358941;BC017692;BC100023;BX382719;CB137990;CH471067;DQ584886;L42379;NM_001004128;NM_002826;U97276 AAA89173;AAC09010;AAH17692;AAI00024;AAM00263;AAQ89300;ADZ16009;BAD92517;BAF83531;BAF83576;EAW91076;EAW91077;NP_001004128;NP_002817;O00391 Hs.744925 1666740;1687253;1764833;2116995;2146428;2219590 G35334;QSCN6__5627;RH70739;SHGC-148395;SHGC-76003;WIAF-2111 FLJ34858;Q6;QSCN6;hQSOX OTTHUMP00000033189;OTTHUMP00000039111;sulfhydryl oxidase 1 APPROVED protein-coding ENSG00000116260 HGNC:9756 06785;08043 603120 REVIEWED 1343877 QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 ENCODES a protein that exhibits glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity; INVOLVED IN glutaminyl-tRNAGln biosynthesis via transamidation; mitochondrial translation; FOUND IN glutamyl-tRNA(Gln) amidotransferase complex; mitochondrion; INTERACTS WITH (+)-catechin; cyclosporin A; formaldehyde 6 6 6 q21 107698355 107737185 + 107077441 107116292 + 106629566 106668417 + 1580863;6480464 11230166;12477932;14702039;16344560;18978678;19805282;20877624;21900206;8125298 55278 Q9H0R6;X6R772 ABBA01026192;ABBA01026193;AK001851;AK022251;AK023509;AK225262;AK225443;AK314694;AL136679;AL390074;AMYH02014243;AMYH02014244;BC006084;BC014389;CH471051;DA819470;NM_018292 AAH06084;AAH14389;ADZ15442;BAA91941;BAB13996;BAB14592;BAG37245;CAB66614;EAW48407;EAW48408;NP_060762;Q9H0R6 Hs.406917 1655421;1665311;1687586;1714819;1961984;2115227;2176760;5015619;5037552;5093688 A009V02;D11S3114;D8S2279;G32865;REN51865;RH11857;RH120076;RH46714;STS-Z40982;WI-17036 DKFZp564C1278;FLJ10989;FLJ12189;FLJ13447;GatA OTTHUMP00000016922;OTTHUMP00000016923;glu-AdT subunit A;glutaminyl-tRNA synthase-like protein 1;glutamyl-tRNA(Gln) amidotransferase subunit A homolog;glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial;glutamyl-tRNA(Gln) amidotransferase, subunit A protein-coding ENSG00000130348 HGNC:21020 15199 VALIDATED 732681 QTRT1 queuine tRNA-ribosyltransferase 1 This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012] 19 19 19 p13.3 10706867 10718794 + 10812112 10824043 + 10701436 10713367 + 1580863;6480464;8554872 11255023;12477932;14702039;15489334;16169070;20354154;21131277;21640076;21963094;22797925;23704982;24654937;24816145;8125298 81890 K7EJ21;K7EL95;K7EPI1;K7ESP6;Q71RF8;Q9BXR0 ABBA01029900;ABBA01029901;ABBA01029902;AC011475;AF302783;AF302784;AF302785;AF370379;AK055216;AK057877;AK225173;AK294166;AK314308;AMYH02035500;AMYH02035501;AMYH02035502;BC015350;CH471106;CT003728;NM_031209 AAG60033;AAG60034;AAH15350;AAQ15215;BAG36960;BAG57488;EAW84138;EAW84139;EAW84140;EAW84141;EAW84142;EAW84143;NP_112486;Q9BXR0 Hs.631638 2178329;5037552;5109281 D1S1425;D8S2279;RH45376 FP3235;TGT;TGUT TGT, 43-KD subunit;TGT, catalytic subunit;guanine insertion enzyme;queuine tRNA-ribosyltransferase;tRNA-guanine transglycosylase APPROVED protein-coding ENSG00000213339 HGNC:23797 17943 609615 REVIEWED 1605632 QSER1 glutamine and serine rich 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; coumestrol 11 11 11 p13 33061545 33148565 + 32914792 33001816 + 32893246 32980270 + 6480464;8554872 12477932;14702039;19471022;19772629;21139048;21252943;21693764;21906983;23667531;24816145 79832 B3KWV1;E9PQD3;H0YCQ7;Q2KHR3 ABBA01060899;ABBA01060900;AC107939;AC244259;AK025577;AK055185;AK095528;AK123858;AK125391;AK125902;AK126023;AL035400;AL049713;AL834141;AMYH02024560;BC013746;BC112935;BM476067;BM670701;CH471064;DA447502;NM_001076786;XM_006718323;XM_006718324;XM_006718325 AAI12936;BAB15176;BAC86397;BAG54263;EAW68214;NP_001070254;Q2KHR3;XP_006718386;XP_006718387;XP_006718388 Hs.369368 1744067;2119636;2136444 GDB:385466;RH18279;STS-AA033959 FLJ21924 OTTHUMP00000232199;OTTHUMP00000232604;OTTHUMP00000232605;glutamine and serine-rich protein 1 protein-coding ENSG00000060749 HGNC:26154 08645 VALIDATED 1319346 QKI QKI, KH domain containing, RNA binding The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 6 6 6 q26 164606149 164729418 + 163835675 163999628 + 163414643 163578596 + 6480464 10535969;11856480;11917126;12477932;12511597;12529443;14574404;14702039;15489334;16189514;16205629;16342280;16641098;16713569;17012699;17079655;17207965;17787018;17918747;18029348;18615156;18938205;19322201;19545858;19615732;19686745;19738201;20082458;20133760;20631256;20927331;20956316;21139048;21165711;21467216;21684615;21768773;21832049;21844227;21890473;21906983;22365833;22398723;22490519;22569043;22751500;22939629;22944692;23000965;23151878;23275563;23321059;23440637;23455924;23525800;23963726;24153116;24398626;7829101;8589716;9671495 9444 F5GXS8;F5GYM3;F5GYT7;F5H5U6;F5H8C8;H0YFB7;H0YG47;H0YGD6;Q8WY44;Q96PU8 AB067798;AB067799;AB067800;AB067801;AB067808;ABBA01015110;AF142422;AF272349;AI146598;AJ420502;AK027309;AK055085;AK096701;AK295235;AK308784;AL031781;AL050218;AL356119;AMYH02014932;AMYH02014933;AW022136;AW131362;AY780788;BC008190;BC012222;BC019917;CH471051;DQ323998;KF458346;NG_029604;NM_001301085;NM_006775;NM_206853;NM_206854;NM_206855;XM_005267224;XR_245557;XR_427977;XR_427978 AAF63417;AAH12222;AAH19917;AAL36980;AAV98358;ABC88600;ACE87839;ACT64517;ADQ32331;BAB55032;BAB69496;BAB69497;BAB69498;BAB69499;BAB69681;BAG58228;EAW47554;EAW47555;EAW47556;EAW47557;EAW47558;EAW47559;EAW47560;NP_001288014;NP_006766;NP_996735;NP_996736;NP_996737;Q96PU8;XP_005267281 Hs.510324 1644450;1648256;1653725;1656035;1658059;1669357;1688394;1700492;1735602;2106793;2125963;2131513;2136039;2140729;2149252;2149254;2190779 A006I04;A007D02;D6S1134E;D6S1171E;D6S1930;G20830;QKI;RH103867;RH15845;RH35872;RH41968;RH46662;RH77886;RH92592;UniSTS:464688;WI-13590;WI-16266 DKFZp586I0923;Hqk;QK;QK1;QK3;hqkI OTTHUMP00000017581;OTTHUMP00000017582;OTTHUMP00000017583;OTTHUMP00000239150;OTTHUMP00000239151;OTTHUMP00000239152;OTTHUMP00000239153;OTTHUMP00000239156;OTTHUMP00000239159;OTTHUMP00000239274;RNA binding protein HQK;homolog of mouse quaking QKI (KH domain RNA binding protein);protein quaking;quaking homolog, KH domain RNA binding APPROVED protein-coding ENSG00000112531 HGNC:21100 06691 609590 REVIEWED 1603166 R3HCC1 R3H domain and coiled-coil containing 1 ENCODES a protein that exhibits nucleic acid binding (inferred); nucleotide binding (inferred); INTERACTS WITH methyl methanesulfonate; pirinixic acid; valproic acid 8 8 8 p21.3 22108180 22116360 + 23145442 23153792 + 23287929 23296279 + 6480464 12477932;20691435;22927429;24816145 203069 E5RHX3;E5RIK1;E5RIQ4;H0YBU3;Q9Y3T6 ABBA01005539;AC090197;AK293465;AL050297;AMYH02017608;BC032421;BC050572;BC128545;BC128546;BC143822;BC143827;BC143829;BX426634;CH471080;NM_001136108;NM_001301650;NR_125897;XM_005273427 AAI43823;AAI43830;BAG56960;CAB43396;EAW63629;EAW63630;NP_001129580;NP_001288579;Q9Y3T6;XP_005273484 Hs.458644 1763307;1786754;1786762;5019134 RH102334;SHGC-147037;SHGC-155387;SHGC-155506 DKFZp564N123 OTTHUMP00000224878;OTTHUMP00000224879;R3H and coiled-coil domain-containing protein 1 protein-coding ENSG00000104679 HGNC:27329 VALIDATED 1316725 R3HDM1 R3H domain containing 1 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; elemental selenium 2 2 2 q21.3 129999849 130193607 + 136289036 136482839 + 135531455 135725270 + 1580863;6480464;8554872 12477932;15144186;15489334;15570572;16344560;16713569;18854154;19240061;24255178;7584026;7584028 23518 C9JIX1;C9JIX3;H7BZ47;H7C1X4;H7C207;H7C2F9;H7C3T7;Q15032 ABBA01028163;ABBA01028164;ABBA01028165;ABBA01028166;ABBA01028167;AC011893;AC016742;AK026987;AK127793;AK290015;AK297000;AL704414;AMYH02004852;AMYH02004853;BC001217;BC041093;BQ011745;CH471058;D21852;DA324823;NM_001282798;NM_001282799;NM_001282800;NM_015361;XM_005263622;XM_005263623;XM_005263624;XM_005263626;XM_005263627;XM_005263628;XM_005263629;XM_005263631;XM_005263632;XM_005263633;XM_006712389;XM_006712390;XM_006712391 AAH01217;AAH41093;AAX88922;AAY14728;BAA04878;BAF82704;BAG54571;BAG59538;EAX11627;EAX11628;NP_001269727;NP_001269728;NP_001269729;NP_056176;Q15032;XP_005263679;XP_005263680;XP_005263681;XP_005263683;XP_005263684;XP_005263685;XP_005263686;XP_005263688;XP_005263689;XP_005263690;XP_006712452;XP_006712453;XP_006712454 Hs.412462 1336044;1338989;1644002;1656663;1700882;1778081;1847034;2109721;2143325;2152386 A004Q45;D20S159;D2S1334;D2S409;R3HDM_9360;RH104067;RH25267;RH35866;RH70244;WI-15764 FLJ23334;KIAA0029;R3HDM OTTHUMP00000162533;OTTHUMP00000204066;OTTHUMP00000204067;OTTHUMP00000204145;R3H domain (binds single-stranded nucleic acids) containing;R3H domain-containing protein 1 protein-coding ENSG00000048991 HGNC:9757 10180 VALIDATED 6769393 R3HDM2P1 R3H domain containing 2 pseudogene 1 4 4 4 131384315 131386220 + 134045259 134047164 + 133124104 133126009 + 100419742 ABBA01044864;AC105383;AMYH02010135;NG_025254 pseudo HGNC:44056 INFERRED 1317417 R3HCC1L R3H domain and coiled-coil containing 1-like ENCODES a protein that exhibits nucleotide binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN exon-exon junction complex; INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; flutamide (ortholog) 10 10 10 q24.2 93631432 93741704 + 99894381 100004654 + 98134624 98244897 + 6480464;8554872 10867487;12477932;14702039;15146197;15164054;15489334;16344560;16385451;20379614;8889548 27291 A8K931;D3DR60;J3KNH6;Q4KMT0;Q4KMY3;Q7Z5L2 ABBA01021781;ABBA01021782;AF050198;AF525304;AK058187;AK094479;AK292546;AL139241;AL355301;AMYH02023619;AMYH02023620;BC009231;BC047908;BC098175;BC098268;BC098359;BC099848;BM969188;BU678731;CH471066;CN352617;DA114618;NM_001256619;NM_001256620;NM_001256621;NM_014472;NM_138469;XM_006717768;XM_006717769 AAC05748;AAH09231;AAH47908;AAH98175;AAH98268;AAH98359;AAH99848;AAP80788;BAC04364;BAF85235;EAW49887;EAW49888;EAW49889;NP_001243548;NP_001243549;NP_001243550;NP_055287;NP_612478;Q7Z5L2;XP_006717831;XP_006717832 Hs.419800 1758725 SHGC-149320 C10orf28;FLJ25458;FLJ37160;GIDRP86;GIDRP88;PSORT OTTHUMP00000020241;OTTHUMP00000020242;R3H and coiled-coil domain-containing protein 1-like;coiled-coil domain-containing protein R3HCC1L;growth inhibition and differentiation related protein 86;growth inhibition and differentiation-related protein 88;putative mitochondrial space protein 32.1 APPROVED protein-coding ENSG00000166024 HGNC:23512 12568 VALIDATED 6768928 R3HDM2P2 R3H domain containing 2 pseudogene 2 6 6 6 q16.3 105085930 105088074 - 104465505 104467656 - 104017630 104019781 - 100129694 ABBA01014426;AL021330;AMYH02014213;NG_022319 2164885 D6S1015 pseudo HGNC:44057 INFERRED 1605089 R3HDM2 R3H domain containing 2 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-fluorouracil; aflatoxin B1; atrazine 12 12 12 q13.3 57301742 57358703 - 57647547 57824782 - 57253764 57430999 - 6480464;8554872 10231032;10737800;12477932;16713569;19322201;20686565;20884846;24097068;24255178 22864 B5MCG9;B5MCU0;B7ZL65;C9J7N6;H0YIF2;H0YIX9;H7C0E9;Q9Y2K5 AB023219;ABBA01026707;AC126614;AC137834;AF113695;AK293394;AMYH02026579;AX775761;AX775763;BC008143;BC041857;BC104995;BC107434;BC112226;BC143605;BQ346058;BU603842;CH471054;NM_014925;XM_005268711;XM_005268715;XM_005268722;XM_005268724;XM_005268725;XM_005268727;XM_005268728;XM_005268729;XM_006719277;XM_006719278;XM_006719279;XM_006719280;XM_006719281;XM_006719282;XM_006719283;XM_006719284;XM_006719285;XM_006719286;XM_006719287;XM_006719288;XM_006719289 AAF29588;AAH41857;AAI04996;AAI07435;AAI12227;AAI43606;BAA76846;BAG56903;CAE11580;CAE11581;EAW97008;EAW97009;NP_055740;Q9Y2K5;XP_005268768;XP_005268772;XP_005268779;XP_005268781;XP_005268782;XP_005268784;XP_005268785;XP_005268786;XP_006719340;XP_006719341;XP_006719342;XP_006719343;XP_006719344;XP_006719345;XP_006719346;XP_006719347;XP_006719348;XP_006719349;XP_006719350;XP_006719351;XP_006719352 Hs.443673 1658352;2157028;5037552 D12S1266;D8S2279;RH68020 KIAA1002;PR01365 OTTHUMP00000201860;OTTHUMP00000201862;OTTHUMP00000201865;R3H domain-containing protein 2 protein-coding ENSG00000179912 HGNC:29167 13827 VALIDATED 1316037 R3HDM4 R3H domain containing 4 ENCODES a protein that exhibits nucleic acid binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cadmium dichloride; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.3 828869 845586 - 896503 913225 - 896503 913225 - 737633;6480464 12477932 15489334;23314748 91300 K7EIG9;K7EN78;K7ER32;Q96D70 ABBA01002607;ABBA01002608;ABBA01002609;AC005379;AC112706;AK000263;AK024622;AMYH02035127;AMYH02035128;BC012775;CH471139;NM_138774 EAW69584;NP_620129;Q96D70 Hs.557655 1681498;1734710 D19S700E;RH36162 C19orf22;MGC16353 R3H domain-containing protein 4;R3H domain-containing protein C19orf22 APPROVED protein-coding ENSG00000198858 HGNC:28270 16625 VALIDATED 7241617 RAB11AP1 RAB11A, member RAS oncogene family pseudogene 1 10 10 10 q23.33 89381190 89381918 - 95641046 95641774 - 93881289 93882017 - 100129731 ABBA01021866;AL138923;AMYH02023564;NG_022154 pseudo HGNC:45188 INFERRED 1313241 R3HDML R3H domain containing-like ENCODES a protein that exhibits peptidase inhibitor activity (inferred); INVOLVED IN negative regulation of peptidase activity (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH fonofos; parathion; terbufos 20 20 20 q13.12 39674292 39688524 + 42965798 42979432 + 44337158 44350792 + 6480464 12477932;21832049;22082156;22158537 140902 Q9H3Y0 ABBA01052639;AL117382;AMYH02037131;BC107048;CH471077;NM_178491 AAI07049;EAW75928;NP_848586;Q9H3Y0 Hs.580807 MGC129564;dJ881L22.3 OTTHUMP00000031047;R3H domain (binds single-stranded nucleic acids) containing-like;cysteine-rich secretory protein R3HDML;peptidase inhibitor R3HDML protein-coding HGNC:16249 17945 PROVISIONAL 6770729 RAB11B-AS1 RAB11B antisense RNA 1 19 19 8439260 8455575 - 8374376 8390691 - 8889548 100507567 ABBA01010849;AC136469;AMYH02035442;BC014506;BG031227;BM983524;HG510324;NR_038237 Hs.637720 1754013;1794942;2118272 D19S1090;PMC85983P1;SHGC-132057 RP11-886P16.3 APPROVED ncrna ENSG00000269386 HGNC:44178 VALIDATED 5135115 RAB11FIP1P1 RAB11 family interacting protein 1 (class I) pseudogene 1 X X X q13.2 73706091 73707961 + 73422621 73424491 + 74202786 74204656 + 646080 ABBA01059593;AMYH02039775;NG_007008;Z83843 pseudo HGNC:42366 INFERRED 1316813 QSOX2 quiescin Q6 sulfhydryl oxidase 2 QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009] 9 9 9 q34.3 109616549 109656505 - 139098179 139137687 - 136206333 136245841 - 737633;1580863;6480464 12477932 12176051;14633699;14702039;15164053;15489334;16751776;20189936;20881960;21139048;22503243;22678362;22939629;23398456 169714 H0Y430;Q6ZRP7 ABBA01030065;ABBA01030066;AJ318051;AJ420461;AK128077;AK128750;AL138781;AL834369;AMYH02021896;AMYH02021897;BC047604;BQ269870;CH471090;CR392000;DQ575499;NM_181701 AAH47604;BAC87262;BAG54726;CAC85331;CAD39032;EAW88207;EAW88208;EAW88209;NP_859052;Q6ZRP7 Hs.144073 1339367;2177917;7185325 D9S158;WI-14818 DKFZp762A2013;QSCN6L1;SOXN OTTHUMP00000022565;neuroblastoma-derived sulfhydryl oxidase;quiescin Q6-like 1;quiescin Q6-like protein 1;sulfhydryl oxidase 2 APPROVED protein-coding ENSG00000165661 HGNC:30249 17942 612860 VALIDATED 1320734 QTRTD1 queuine tRNA-ribosyltransferase domain containing 1 This gene encodes a subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine, and tyrosine. The encoded protein may play a role in the queuosine 5'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 3 3 3 q13.31 112184038 112215695 + 113775582 113807269 + 114056735 114088422 + 737633;6480464;8554872 12477932 14702039;15174051;16009940;17207965;20354154;21044367;21131277;21139048;21890473;21906983;21963094;22505724;22797925;22939629;24654937;24816145;25027693 79691 C9JJ71;C9K0B6;Q9H974 ABBA01061640;AC092896;AK023022;AK296938;AK299313;AL832215;AL833709;AMYH02007456;BC034559;BC039265;CH471052;CR457296;DC400836;NM_001256835;NM_001256836;NM_001256837;NM_024638;XM_005247769;XM_005247770;XM_006713744 AAH34559;AAH39265;ADQ31752;BAB14361;BAH12458;BAH12998;CAG33577;EAW79613;EAW79614;NP_001243764;NP_001243765;NP_001243766;NP_078914;Q9H974;XP_005247826;XP_005247827;XP_006713807 Hs.477162 1668966;1675212;2124941;5015619;5022200;5022651;5037552;5117897 D11S2921;D11S3114;D8S2279;GDB:631813;L18426;SGC34819;SHGC-77183;STS-N39421 FLJ12960 OTTHUMP00000214917;OTTHUMP00000214918;QTRTD1 {ECO:0000255|HAMAP-Rule:MF_03043};queuine tRNA-ribosyltransferase domain-containing protein 1;queuine tRNA-ribosyltransferase domain-containing protein 1 {ECO:0000255|HAMAP-Rule:MF_03043};queuine tRNA-ribosyltransferase subunit QTRTD1;queuine tRNA-ribosyltransferase subunit QTRTD1 {ECO:0000255|HAMAP-Rule:MF_03043} APPROVED protein-coding ENSG00000151576 HGNC:25771 17944 REVIEWED 1347457 RAB11FIP1 RAB11 family interacting protein 1 (class I) This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013] 8 8 8 p11.22 36668048 36708783 - 37716465 37757015 - 37858947 37899497 - 6480464;6907045;8554872 11495908;11786538;11944901;12364336;12477932;14702039;15134434;15181150;15280022;15355514;15489334;15769254;16049696;16216915;16920206;16964243;17081983;17353931;17979178;18029348;18838556;19620787;19702578;20610657;20810886;21139048;21640764;21906983;22188018;23283983;23592992;24040321;24144296;24255178;24302731;24816145 80223 E7EX40;Q6WKZ4 ABBA01023565;ABBA01023566;ABBA01023567;AC130304;AF368294;AK026177;AK026275;AK090437;AK092296;AK122583;AK124422;AK226111;AK291781;AL832155;AL833169;AMYH02017816;AMYH02017817;AMYH02017818;AY280966;AY280967;AY280968;AY280969;AY280970;AY367050;BC001314;BC054881;BC077720;CH471080;CQ859756;DQ083995;DQ236342;NM_001002814;NM_025151 AAH77720;AAM09571;AAQ18784;AAQ18785;AAQ18786;AAQ18787;AAQ18788;AAR15506;AAY86040;ABB43161;BAB15424;BAC03418;BAC56924;BAF84470;BAG52524;CAH25928;EAW63347;EAW63348;EAW63349;NP_001002814;NP_079427;Q6WKZ4 Hs.191179 1679646;1731369;1858295;2110697;2141610;2149986;2156579;2165674;5014063;5014740;5015404;5015619;5015961;5016478;5017170;5020414;5020740;5020948;5024756;5037552;5114248;7184802 D11S3114;D15S1390;D15S1477;D17S610;D18S21;D8S1923;D8S2119;D8S2279;G32137;G35510;GDB:434012;L17688;L17705;L17809;L29953;RCP_3679;RH45531;RH78422;RH80030;RH98869;STS-H02245 DKFZp686E2214;FLJ22524;FLJ22622;MGC78448;NOEL1A;RCP;rab11-FIP1 OTTHUMP00000225615;OTTHUMP00000225616;OTTHUMP00000225617;RAB11 coupling protein;Rab effector protein;Rab-interacting recycling protein;rab-coupling protein;rab11 family-interacting protein 1 APPROVED protein-coding ENSG00000156675 HGNC:30265 09787 608737 VALIDATED 1344867 RAB11FIP2 RAB11 family interacting protein 2 (class I) ENCODES a protein that exhibits protein homodimerization activity; protein kinase binding; INVOLVED IN establishment of cell polarity; insulin secretion involved in cellular response to glucose stimulus (ortholog); regulated secretory pathway (ortholog); PARTICIPATES IN vasopressin signaling pathway; endocytosis pathway; vasopressin signaling pathway via receptor type 2; ASSOCIATED WITH Melanoma (inferred); FOUND IN endosome; intracellular membrane-bounded organelle; nucleus; INTERACTS WITH 17beta-estradiol; cyclosporin A; formaldehyde 10 10 10 q26.11 113494224 113535915 - 119764427 119806297 - 118004916 118046786 - 2312655;2312656;6480464;6907045;8554872 17156409;18431594 10231032;11481332;11495908;11944901;11994279;12364336;12393859;12470645;12477932;15004234;15173169;15304524;15324660;15489334;16251358;16734419;16775013;16905101;17082457;17626244;17979178;18029348;18621683;18984164;19542231;20329706;20379614;22420646;22558309;23006599;23936387;24204828;24255178;24372966;8889548 22841 Q7L804 AB023158;ABBA01062936;AC022395;AMYH02023891;AY037299;BC075073;BC075074;BM975322;BX647717;CH471066;DQ013303;NM_014904;XM_005269629 AAH75073;AAH75074;AAK68635;AAY67796;BAA76785;EAW49423;NP_055719;Q7L804;XP_005269686 Hs.173656 1683008;1685506;1691226;1754561;1772782;1774657;1790993;2168528 A004P42;D19Mgc5;RH44480;RH68381;RH91963;RH94036;SHGC-132842;SHGC-53330 KIAA0941;Rab11-FIP2;nRip11 OTTHUMP00000020579;RAB11-FIP2 long isoform;rab11 family-interacting protein 2 protein-coding ENSG00000107560 HGNC:29152 10548 608599 VALIDATED 1343833 RAB11A RAB11A, member RAS oncogene family The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 15 15 15 q22.31 43039718 43059714 + 66161629 66184329 + 65869459 65891991 + 2302395;2302397;2312655;2306494;2312656;4892310;6480464;6484113;6907045 17156409;17629673;18171431;18431594;18570632;20548331 10077598;10369872;10464283;10512627;10747849;11163216;11408590;11481332;11495908;11786538;11994279;12145319;12435603;12470645;12477932;12540381;12554740;12938929;14699104;14702039;15134434;15173169;15181150;15188492;15190120;15229288;15280022;15304524;15326289;15489334;15569681;15601896;15604093;15634213;15837192;16126723;16148947;16189514;16214890;16354686;16473307;16473633;16730941;16734419;16905101;17007872;17030804;1704119;17043677;17082457;1711847;17157409;17255364;17353931;17426287;17462998;17476295;17507647;17538027;17540176;17562788;17626244;17854769;18311135;18406652;18511905;18550774;18685082;18701709;18781797;18832025;18843107;19009530;19193894;19322201;19398555;19460752;19542231;19641023;19738201;19752198;19797056;19996123;20026645;20308558;20346379;20357086;20395296;20622010;20727405;20877624;20933442;21139048;21273506;21282656;21307188;21525351;21586748;21653824;21789505;21890473;21906983;21988832;22053931;22303009;22304920;22404213;22420646;22613832;22685325;22939629;22981775;23000965;23176490;23283983;23454239;23589291;23640058;23733193;24056041;24163434;24190883;24302731;24373285;24583282;24876499;24892806;9662449;9719562 8766 B4DQU5;H3BMH2;H3BN38;H3BSC1;P62491 ABBA01038835;AC084854;AF000231;AF498946;AK054930;AK297549;AK298961;AK300008;AK311770;AMYH02030637;BC013348;BC047114;BI550703;BT020151;BT020154;CH471082;CR407669;CR536493;DC300743;NM_001206836;NM_004663;X53143;X56740 AAC32887;AAH13348;AAM21094;AAV38953;AAV38956;ABM83980;ABM87302;BAG34713;BAG59943;BAG61057;BAG61825;CAA37300;CAA40064;CAG28597;CAG38732;EAW77752;EAW77753;NP_001193765;NP_004654;P62491 Hs.321541 1675233;1675917;1710438;1736522;1738957;1771935;1796608;1849856;1855139;1856581;2160710;2175417;2190619;5037552 1982;A008D11;D15S710E;D15S728E;D15S857;D15S913;D8S2279;RAB11A;RAB11A_474;RH80236;SHGC-82517;STS-N21208;WI-15108;WI-17132 MGC1490;YL8;rab-11 OTTHUMP00000164214;RAB 11A, member oncogene family;ras-related protein Rab-11A APPROVED protein-coding ENSG00000103769 HGNC:9760 05715 605570 REVIEWED 1346029 RAB11FIP5 RAB11 family interacting protein 5 (class I) ENCODES a protein that exhibits gamma-tubulin binding; INVOLVED IN cellular response to acidic pH; regulation of protein localization to cell surface; insulin secretion involved in cellular response to glucose stimulus (ortholog); PARTICIPATES IN endocytosis pathway; FOUND IN intracellular membrane-bounded organelle; microtubule organizing center; mitochondrial outer membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; cyclosporin A 2 2 2 p13 73151353 73190989 - 73300510 73340146 - 73073382 73113018 - 6480464;6907045 10048485;10545525;11163216;11278501;11481332;11495908;12364336;12470645;12477932;12554740;12684040;14702039;15144186;15324660;15489334;16148947;16751776;17081983;17620599;17854769;18029348;18384058;18729074;18957512;19702578;20379614;20717956;20877624;21139048;21150319;21906983;21969467;22053931;22505724;22939629;22952844;23000965;23443559;24056041;24654937 26056 Q9BXF6;Q9UFM0 AB020664;ABBA01075576;AC010913;AC012366;AF153085;AF334812;AK023823;AK024727;AL117579;AMYH02004070;BC035013;BC099902;CH471053;NM_015470;XM_005264251;XM_005264252;XM_005264253;XM_006711985 AAF34356;AAH35013;AAK20892;AAX88900;AAY14746;ABM81917;ABM85094;BAA74880;CAB56002;EAW99749;EAW99750;EAW99751;NP_056285;Q9BXF6;XP_005264308;XP_005264309;XP_005264310;XP_006712048 Hs.24557 1338910;1655188;2107131 D2S2111;GAF1__6771;RH78075 DKFZp434H018;GAF1;KIAA0857;RIP11;gaf-1;pp75;rab11-FIP5 OTTHUMP00000160201;gamma-SNAP-associated factor 1;phosphoprotein pp75;rab11 family-interacting protein 5;rab11-interacting protein Rip11 protein-coding ENSG00000135631 HGNC:24845 16117 605536 VALIDATED 1348691 RAB11FIP4 RAB11 family interacting protein 4 (class II) Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP4 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Apr 2008] 17 17 17 q11.2 26666452 26785001 + 29718642 29865232 + 31391624 31538213 + 1580863;6480464;6907045;8554872 10843809;11347906;11468690;11495908;12470645;12477932;12696059;14702039;15489334;15601896;16148947;16713569;17030804;17632510;20379614;20682791;21890473;22348143 84440 J3QKR9;J3QLM3;K7EL58;K7EMK3;Q86YS3 AB058724;ABBA01014958;ABBA01014959;ABBA01014960;ABBA01014961;AC003101;AC135724;AJ314646;AK055019;AK074060;AK074341;AK097424;AL359563;AL831830;AMYH02033295;AMYH02033296;AMYH02033297;AMYH02033298;AMYH02033299;AMYH02033300;AMYH02033301;AMYH02033302;AMYH02033303;AY169244;BC004515;BC006240;BC023618;BC047674;BC093914;BC094803;BC101517;CH471147;KC877637;KC877646;KF510421;NM_032932;XM_005258045 AAH93914;AAI01518;AAO21970;BAB47450;BAB84886;BAC05045;CAC44535;CAD38543;EAW80265;NP_116321;Q86YS3;XP_005258102 Hs.406788 1651570;1661137;1687662;1696240;1722421;1729568;1735498;1769039;2116543;2123967;2126833;2129600;2135033;2146723;2163483;2166012;2168479;2175734;2219592;2219990;5022578;5037552;5096216 Cda0zg05;D17S145;D17S1681;D17S1972;D1S1423;D5S1621E;D8S2279;G60284;IB518;NF1__6237;RAB11-FIP4__5629;RH18392;RH69351;RH78102;RH78318;RH91562;SGC30494;SHGC-57602;SHGC-8060;SHGC-83604;STS-M79255;WI-18876;WIAF-1519 FLJ00131;KIAA1821;MGC11316;MGC126566;RAB11-FIP4 FIP4-Rab11;OTTHUMP00000163676;arfophilin-2;rab11 family-interacting protein 4 APPROVED protein-coding ENSG00000131242 HGNC:30267 11466 611999 VALIDATED 1346694 RAB12 RAB12, member RAS oncogene family ENCODES a protein that exhibits GDP binding; INVOLVED IN cellular protein catabolic process (ortholog); endosome to lysosome transport (ortholog); FOUND IN lysosome (ortholog); recycling endosome membrane (ortholog); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; potassium chromate 18 18 18 p11.22 8493793 8523729 + 8609443 8639380 + 8609445 8639383 + 6480464 12477932;15489334;20360680;21139048;21890473;22178446;23000965;23357852 201475 Q6IQ22 ABBA01049934;ABBA01049935;AK127824;AMYH02034279;AMYH02034280;AMYH02034281;AP001793;BC050338;BC071600;BC098407;CH471113;NM_001025300;XM_006722300 AAH71600;AAH98407;EAX01616;NP_001020471;Q6IQ22;XP_006722363 Hs.270074 1299942;1651416;1660481;1673096;1693618;1715841;1850898;2120580;2121142;2139109 A006T07;D18S843;G29154;RH119614;RH16019;RH17850;RH36089;SGC33969;SHGC-58531;SHGC-63602 FLJ45927;MGC104724 putative Ras-related protein Rab-12;ras-related protein Rab-12 protein-coding ENSG00000206418 HGNC:31332 VALIDATED 737104 RAB14 RAB14, member RAS oncogene family RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009] 9 9 9 q32-q34.11 94588887 94612841 - 123940415 123964365 - 121178137 121202087 - 2302393;2302395;2302397;2306295;2306494;6480464 17629673;17717074;18171431;18570632;18701652 10931946;11076863;11149929;11230166;11256614;11790131;12477932;12535645;14702039;15004230;15164053;15489334;15489336;15761153;16034420;16344560;16381901;16902405;17353931;17562788;17646400;17897319;19056867;19702578;20534812;21124879;21139048;21358675;21565611;21832049;21890473;21906983;21963094;22053931;22178446;22304920;22505724;22595670;22610502;22939629;23000965;23246001;23383273;23592992;23606746;23615442;24006491;24250222;24332808;24457600;25015289;8619474;9110174;9792283 51552 P61106;X6RFL8 ABBA01016234;AF052113;AF112206;AF152463;AF203689;AF498949;AK000447;AK023524;AK090889;AL110256;AL137068;AL162081;AMYH02021577;AY553875;BC006081;BC013057;CH471090;CR457394;DA404780;NM_016322 AAF00150;AAF17194;AAF19400;AAH06081;AAM21097;AAS64573;BAB14598;BAG52243;CAB82414;CAG33675;CAL38170;CAL38228;EAW87487;EAW87488;NP_057406;P61106 Hs.371563 1768046;1855925;2145303;2164996;2176452;2217882 2082;FB23F1;G31068;RAB14_1893;RH47559;STS-AA025734 FBP;RAB-14 F protein-binding protein 1;OTTHUMP00000022008;OTTHUMP00000022009;bA165P4.3 (member RAS oncogene family);gtpase rab14;ras-related protein Rab-14;small GTP binding protein RAB14 APPROVED protein-coding ENSG00000119396 HGNC:16524 06693 612673 VALIDATED 1351715 RAB15 RAB15, member RAS oncogene family ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN positive regulation of regulated secretory pathway; FOUND IN cytoplasm; endosome membrane; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; arsenous acid 14 14 14 q23.3 45467116 45493459 - 65412532 65439016 - 64945814 64972294 - 6480464 10428799;10837464;11697911;12105226;12477932;12508121;12578829;15146197;15489334;16195351;17207965;17646400;18676680;19056867;19170196;19625176;19692168;19773279;19913121;20379614;20628086;21319273;21491086;21853274;22427180;23246001 376267 G3V196;G3V562;G5EMR8;J3QSF4;P59190;Q6MZX6 AB672631;AB672632;AB678452;AB678453;ABBA01018373;ABBA01018374;AL139022;AMYH02029364;AX399903;BC014511;BC040679;BX248046;BX640825;CH471061;CN352234;NM_198686;W81100;XM_005267597 AAH40679;ADQ32453;BAL14287;BAL14288;BAL14289;BAL14290;CAD33347;CAD62353;CAE45901;EAW80893;EAW80894;EAW80895;NP_941959;P59190;XP_005267654 Hs.512492 1689568;5090949 RH44212;RH76749 OTTHUMP00000183466;OTTHUMP00000233458;OTTHUMP00000246686;OTTHUMP00000246687;RAB15, member RAS onocogene family;Ras-related protein Rab-15 isoform AN1;Ras-related protein Rab-15 isoform AN2;Ras-related protein Rab-15 isoform AN3;ras-related protein Rab-15 APPROVED protein-coding ENSG00000139998 HGNC:20150 11467 VALIDATED 1346493 RAB17 RAB17, member RAS oncogene family The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009] 2 2 2 q37.3 232196815 232213528 - 238482965 238499769 - 237574322 237591126 - 1580863;6480464 10329441;11076863;11230166;11256614;12477932;14702039;15342556;15489334;15489336;15761153;16169070;16381901;17353931;17646400;19056867;20379614;21291502;22328529;23251661;8125298;8486736;9624171 64284 B8ZZM5;C9J0T6;F8WAG1;F8WBE9;H7C1P7;Q9H0T7 ABBA01042588;AC104667;AK022600;AK225423;AL136645;AMYH02006065;BC000929;BC007907;BC009827;BC023661;BC050426;BP313619;BX647412;CH471063;CR457282;CR533454;NM_022449;NR_033308;XM_006712687;XM_006712688;XM_006712689 AAH00929;AAH07907;AAH09827;AAH50426;AAY24047;BAB14121;CAB66580;CAG33563;CAG38485;CAL37678;EAW71118;EAW71119;EAW71120;NP_071894;Q9H0T7;XP_006712750;XP_006712751;XP_006712752 Hs.44278 2159471 RH69487 FLJ12538 OTTHUMP00000164417;OTTHUMP00000202805;ras-related protein Rab-17 APPROVED protein-coding ENSG00000124839 HGNC:16523 11468 602206 VALIDATED 1318941 RAB18 RAB18, member RAS oncogene family The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 10 10 10 p12.1 27556861 27592716 + 27793103 27831166 + 27504174 27542237 + 1580863;6480464;8699517;8554872;7240710 10648831;10931946;11076863;11230166;11256614;12477932;12535645;12800201;14702039;15146197;15164054;15342556;15489334;15489336;15914536;16147880;16169070;16207721;16381901;16808905;17540176;18349058;18664496;19471022;21139048;21473985;21906983;21963094;23000965;23176487;23420520;23471881;23798571;23935497;24250222;24477653;24696471;24816145;24891604;24997429;7566098;7706395;8125298;8889549 22931 B7Z4P9;B7Z5V3;H0Y6T8;Q5W0J0;Q9NP72 AB209698;ABBA01034387;AF087860;AF136974;AF137372;AF498950;AF532968;AJ277145;AK001555;AK223153;AK295443;AK297629;AK299457;AL136734;AL138920;AMYH02022514;AMYH02022515;AY574034;BC015014;BC029350;BP210053;BT009840;CH471072;CN357871;CR533455;KF459537;N56901;NG_032035;NM_001256410;NM_001256411;NM_001256412;NM_001256415;NM_021252;NR_046172 AAF61433;AAG49435;AAH15014;AAH29350;AAM21098;AAP85637;AAP88842;AAP97170;AAU08232;BAD92935;BAD96873;BAG50939;BAH12069;BAH12635;BAH13039;CAB66668;CAB86486;CAG38486;CAL38020;EAW86054;EAW86055;NP_001243339;NP_001243340;NP_001243341;NP_001243344;NP_067075;Q9NP72 Hs.406799 1655268;1667101;1673965;1677826;1778332;1848221;2154977;2161064;2217884 RAB18_3279;RH46011;RH47179;RH92596;SHGC-32671;SHGC-36745;STS-H21670;STS-N52153;STS-W45315 RAB18LI1;WARBM3 OTTHUMP00000019371;OTTHUMP00000019372;OTTHUMP00000019373;RAB18 small GTPase;ras-related protein Rab-18 APPROVED protein-coding ENSG00000099246 HGNC:14244 03731 602207;614222 REVIEWED 1345480 RAB1B RAB1B, member RAS oncogene family Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM, Jan 2009] 11 11 11 q12 1045 2735 + 66036056 66044963 + 66268585 66277492 + 1580863;6480464 10493955;11076863;11230166;11256614;11306556;12051767;12477932;12802079;15489334;15489336;15694364;15796781;16381901;17353931;17429068;17474147;17947549;18187620;18781797;1918138;20164217;20980813;21093099;21139048;21680502;21832049;21890473;21906983;21926972;21963094;21988832;22053931;22178446;22260459;22863883;22939629;23000965;23188820;23236136;23246001;23288104;23325787;23824909;24250222;24457600;7592724;8836150;9030196;9437002 81876 E9PLD0;Q9H0U4 ABBA01024088;AF092437;AJ245875;AK292086;AK315333;AL136635;AMYH02024974;AP001107;BC028331;BC071169;BG717501;CR533462;NM_030981;U66621 AAC51196;AAH71169;AAP97212;BAF84775;BAG37733;CAB66570;CAC21570;CAG38493;CAL38073;NP_112243;Q9H0U4 Hs.300816 5113072 RH69692 OTTHUMP00000234421;OTTHUMP00000234422;ras-related protein Rab-1B;small GTP-binding protein APPROVED protein-coding ENSG00000174903 HGNC:18370 11469 612565 VALIDATED 1604893 RAB1C RAB1C, member RAS oncogene family pseudogene ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN protein transport (inferred); small GTPase mediated signal transduction (inferred); FOUND IN cytoplasm (inferred); membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 p13.2 37569905 37570510 - 37636685 37637290 - 37636688 37637293 - 6480464 17474147;23246001;9030196 441400 Q92928 ABBA01050390;AL513165;AMYH02019498;CH471071;NG_005395;U66622 AAC51197;EAW58272;Q92928 Hs.651788 pseudo HGNC:23683 INFERRED 68529 RAB11B RAB11B, member RAS oncogene family The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010] 19 19 19 p13.2 8311860 8325986 + 8455205 8469318 + 8390321 8404434 + 1580863;6480464;6907045 10942597;11408590;11481332;11495908;12477932;14627637;15342556;15489334;15569681;16169070;16473633;16545962;17255364;17507647;19060906;19244346;20000738;20360680;20622010;20686666;20717956;20877624;21139048;21248079;21319273;21832049;21890473;21906983;21963094;22053931;22561749;22939629;23000965;23383273;24056041;24141907;24332808;24816145;7811277;8125298 9230 M0R2D0;M0R377;Q15907 ABBA01010846;ABBA01010847;ABBA01010848;ABBA01010849;AC136469;AF498947;AK225036;AK225642;AK297498;AK312994;AMYH02035442;BC110081;BP367041;BP396219;BT019535;BT019536;CH471139;CR536494;CR541691;CX787570;D38516;EF560724;NM_004218;X79780 AAI10082;AAM21095;AAV38342;AAV38343;ABQ59034;ACT64349;ACT64350;BAG35831;BAG59912;CAA56176;CAG38733;CAG46492;EAW68925;EAW68926;EAW68927;NP_004209;Q15907 Hs.626404 2135417 WI-15303 H-YPT3;MGC133246 GTP-binding protein YPT3;RAB11B, member of RAS oncogene family;ras-related protein Rab-11B APPROVED protein-coding ENSG00000185236 HGNC:9761 05009 604198 VALIDATED 1604143 RAB19 RAB19, member RAS oncogene family ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN protein transport (inferred); small GTPase mediated signal transduction (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog) 7 7 7 q34 134825908 134848114 + 140103843 140126653 + 140404043 140426853 + 6480464 12477932;12690205;19056867 401409 A4D1S5;C9JJQ5 ABBA01034066;AC069335;AC093087;AF091033;AMYH02016903;BC140796;BC171745;CH236950;CH471070;DN996121;DY655778;NM_001008749;XM_005249996;XM_005249997;XM_005249998;XM_006715986 A4D1S5;AAF00046;AAI40797;EAL24028;EAL24029;EAW83948;NP_001008749;XP_005250053;XP_005250054;XP_005250055;XP_006716049 Hs.583545 RAB19B GTP-binding protein RAB19B;OTTHUMP00000212106;OTTHUMP00000212107;ras-related protein Rab-19 protein-coding ENSG00000146955 HGNC:19982 17946 VALIDATED 735722 RAB10 RAB10, member RAS oncogene family RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM, Mar 2009] 2 2 2 p23.3 26097002 26200567 + 26256729 26360323 + 26033860 26137454 + 2302393;2302395;2302397;2306494;6480464 17629673;17717074;18171431;18570632 10931946;11230166;11773082;12477932;12578829;14702039;15489334;15855153;16154996;16169070;16344560;16641372;16923123;17207965;17215244;17255364;17353931;19008234;19056867;19322201;19717423;19738201;20028485;20360680;20379614;21070595;21139048;21454697;21832049;21890473;21900206;21906983;21987572;22542470;22623428;22939629;23000965;23125841;23246001;23263280;23319000;23383273;24250222;24332808;24337577;24457600;24509846;24816145;7688123;9918381 10890 P61026;Q9UL28 ABBA01045170;ABBA01045171;ABBA01045172;ABBA01045173;ABBA01045174;AC011742;AC013449;AF086917;AF091032;AF106681;AF297660;AF498945;AK023223;AK025136;AL136650;AL517754;AMYH02003453;AMYH02003454;AMYH02003455;BC000896;CH471053;CR457303;DA295568;NM_016131 AAD43034;AAF00045;AAG13413;AAH00896;AAM21093;AAP97147;AAX93140;AAY24262;ACE86567;ACE87249;ADQ32395;BAB14474;CAB66585;CAG33584;EAX00710;EAX00711;NP_057215;P61026 Hs.467960 1734784;1771722;1796606;2119812;2129342;2137959;2149714;2168172;5093702 A008Q03;A009V12;D2S1559E;D2S2926;G09238;G16405;G32873;RAB10_1045;WI-20600 GTP-binding protein RAB10;OTTHUMP00000120025;ras-related GTP-binding protein;ras-related protein Rab-10;ras-related protein rab10 APPROVED protein-coding ENSG00000084733 HGNC:9759 06692 612672 VALIDATED 1315116 RAB20 RAB20, member RAS oncogene family ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN phagosome acidification; phagosome-lysosome fusion; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi apparatus; intracellular membrane-bounded organelle; phagocytic vesicle; INTERACTS WITH (-)-demecolcine; 1-nitropyrene; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid 13 13 13 q34 92021471 92060129 - 111175413 111214071 - 110523066 110561724 - 1580863;6480464;8554872 11697911;12477932;14702039;15489334;16613320;18649179;20379614;21139048;23874396;7706395 55647 Q9NX57 ABBA01026993;AJ272065;AK000436;AK000446;AL139385;AMYH02028711;AMYH02028712;BC026025;CH471085;NM_017817 AAH26025;ABM83071;ABM86266;BAA91163;BAA91171;CAC81247;EAX09113;NP_060287;Q9NX57 Hs.743563 1729716;1737471;1796612 D13S1022;D7S463;RAB20_1051 FLJ20429 OTTHUMP00000018699;ras-related protein Rab-20 protein-coding ENSG00000139832 HGNC:18260 06694 PROVISIONAL 1350604 RAB1A RAB1A, member RAS oncogene family This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq, Oct 2008] 2 2 2 p14 65160375 65204151 - 65313988 65357435 - 65086854 65130301 - 6480464 10903204;11076863;11230166;11256614;11285137;11718716;11739271;11739401;12477932;12538640;12656988;12788069;14702039;15186776;15489334;15489336;15796781;16169070;16381901;16473624;16902405;17255364;17620599;17646400;17684057;17901050;18167358;18363836;18781797;1902553;19135528;19322201;19357319;19471022;20176951;20639577;20980813;21139048;21320693;21565611;21680502;21890473;21906983;21963094;22053931;22228731;22260459;22491470;22505724;22628317;22863883;22939629;23000965;23055524;23246001;23696742;23716696;23770851;23815289;23821544;23824909;23939344;24250222;24332808;24337577;24407591;24984263;2501306;25015289;7782346;7991565;8294464;8356066;8838809;9341137;9730828;9918381 5861 B7Z8M7;E7END7;P62820;Q5U0I6 ABBA01075431;ABBA01075432;ABBA01075433;ABBA01075434;AC007318;AF398475;AF498929;AI768809;AK055927;AK303678;AK315495;AL050268;AMYH02003973;AMYH02003974;BC000905;BG704216;BT019528;BT019529;BX571747;CH471053;CR533479;CR536488;DC352417;M28209;NM_004161;NM_015543;XM_005264468 AAA60240;AAH00905;AAK94463;AAM21077;AAV38335;AAV38336;ABM85010;ACE86509;ACE87190;BAB71048;BAG37879;BAH14013;CAB43369;CAE11872;CAG38510;CAG38727;CAL37562;EAW99917;EAW99918;EAW99919;EAW99920;EAW99921;EAW99922;EAW99923;EAW99924;EAW99925;NP_004152;NP_056358;P62820;XP_005264525 Hs.310645 1758017;1796610;1855304;2107791;2191543 MARC_26152-26153:1030387245:1;MARC_33894-33895:1054217168:1;RAB1A_1049;SHGC-147132;WI-13176 DKFZp564B163;RAB1;YPT1 GTP binding protein Rab1a;OTTHUMP00000202271;OTTHUMP00000202272;OTTHUMP00000202273;OTTHUMP00000202274;RAB1, member RAS oncogene family;Rab GTPase YPT1 homolog;YPT1-related protein;ras-related protein Rab-1A APPROVED protein-coding ENSG00000138069 HGNC:9758 01538 179508 REVIEWED 1350890 RAB21 RAB21, member RAS oncogene family This gene belongs to the Rab family of monomeric GTPases, which are involved in the control of cellular membrane traffic. The encoded protein plays a role in the targeted trafficking of integrins via its association with integrin alpha tails. As a consequence, the encoded protein is involved in the regulation of cell adhesion and migration. [provided by RefSeq, Aug 2013] 12 12 12 q21.1 71810833 71843321 + 72148658 72181150 + 71754878 71787370 + 1331374;1580863;6480464 10887961 11076863;11256614;11697911;12477932;15489334;15489336;15561770;15649134;16034420;16381901;16525121;16754960;17312329;17450153;17581628;18162182;18318119;18781797;18804435;19056867;19322201;19418559;19745841;19953096;21139048;21768288;22053931;22120710;22525675;22939629;23000965;24477653;25015289;7788527;9918381 23011 Q96GX3;Q9UL25 ABBA01026506;ABBA01026507;AC012018;AC089984;AF091035;AMYH02026740;BC009109;BC021901;BC092475;CH471054;D42087;NM_014999 AAF00048;AAH09109;AAH21901;AAH92475;BAA07682;CAL38568;EAW97270;EAW97271;NP_055814;Q9UL25 Hs.524590 1707806;1757023;1782768;1796614;2186223;2186763;5014051;5015619;5022200;5037552 A008Y11;D11S3114;D8S2278;D8S2279;L18426;RAB21_1053;RH25342;SHGC-144387;SHGC-172822;SHGC-82129 KIAA0118 OTTHUMP00000241571;ras-related protein Rab-21 APPROVED protein-coding HGNC:18263 06695 612398 PROVISIONAL 1323682 RAB22A RAB22A, member RAS oncogene family The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq, Jul 2008] 20 20 20 q13.32 53625236 53683029 + 56884771 56942563 + 58309715 58367507 + 1580863;6480464;6907045;8554872 10329441;10887961;11780052;11870209;12477932;14702039;15181155;15489334;15748882;15761153;16034420;16189514;16537905;16923123;19056867;19322201;19759177;21139048;21674799;23000965;24816145;24938788;9918381 57403 Q96IY7;Q9UL26 ABBA01005978;ABBA01005979;ABBA01005980;ABBA01005981;AF091034;AJ276210;AK054767;AK091180;AL035455;AL049985;AMYH02037363;BC007036;BC015710;BC016864;BC042545;BC063457;BI457862;BT007046;CH471077;DB452461;NM_020673;XM_005260469 AAF00047;AAH07036;AAH15710;AAH63457;AAP35695;BAG52298;CAC10538;EAW75496;EAW75497;NP_065724;Q9UL26;XP_005260526 Hs.529044 1796616;2116120;2120800;2140538;2140540;2170912;2183701;5015861;5020946;5037552;5109281;7185938 A002U04;A006N26;D10S16;D1S1425;D8S2279;HSCZWA052;L17971;RAB22A_1154;RH11002;RH15965;WI-20991 MGC16770;rab-22 GTP-binding protein RAB22A;OTTHUMP00000031397;ras-related protein Rab-22A APPROVED protein-coding ENSG00000124209 HGNC:9764 06696 612966 REVIEWED 733233 RAB13 RAB13, member RAS oncogene family This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12. [provided by RefSeq, Jan 2013] 1 1 1 q21.2 127025879 127030558 - 153954093 153958853 - 153981617 153986377 - 1580863;6480464 11076863;12058051;12477932;14702039;15096524;15146197;15489334;15489336;15528189;15761153;16381901;16525024;16710414;16923123;17891173;18029348;18779367;19056867;19273188;19885626;20360680;21139048;21890473;21906983;22178446;22562557;23000965;23246001;24332808;8294494;8375503;9605854;9712853;9918381 5872 P51153;Q504R6 ABBA01049460;AF498948;AK128675;AK291580;AL358472;AMYH02001912;AY423722;BC000799;BC009227;BC073168;BC094846;BJ997167;BT019700;BT019701;BU188046;CH471121;CN396084;NM_001272038;NM_002870;NR_073553;X75593 AAH00799;AAH09227;AAH73168;AAH94846;AAM21096;AAS00485;AAV38506;AAV38507;BAF84269;CAA53266;CAL37529;CAL38030;CAL38143;CAL38342;CAL38614;CAL38685;EAW53248;EAW53249;EAW53250;NP_001258967;NP_002861;P51153 Hs.151536 1678199;1684524;5037552 D8S2279;RH70905;RH79166 GIG4 OTTHUMP00000034758;RAS-associated protein RAB13;cell growth-inhibiting gene 4 protein;growth-inhibiting gene 4 protein;ras-related protein Rab-13 protein-coding ENSG00000143545 HGNC:9762 04053 602672 REVIEWED 736116 RAB26 RAB26, member RAS oncogene family Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010] 16 16 16 p13.3 2413043 2418558 + 2198145 2204141 + 2148650 2154140 + 1580863;6480464 10857477;11043516;12477932;12578829;15489334;15616553;16696853;19913121;20038531;20628086;21139048;21832049;23105096;8889548 25837 B2RAA6;H3BMG6;H3BQ97;Q9ULW5 AB027137;ABBA01030271;AC005346;AC009065;AF498952;AK308560;AK309666;AK314110;AMYH02031245;AY646153;BC007681;BC066913;CB242472;CH471112;NM_014353 AAH66913;AAM21100;AAU88191;BAA84707;BAG36803;EAW85550;EAW85551;EAW85552;NP_055168;Q9ULW5 Hs.3797 1798062;1850494 RAB26_2225;RH71168 V46133 OTTHUMP00000159048;Ras-related oncogene protein;ras-related protein Rab-26 APPROVED protein-coding ENSG00000167964 HGNC:14259 05676 605455 VALIDATED 732208 RAB27B RAB27B, member RAS oncogene family Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010] 18 18 18 q21.2 49213386 49274789 + 52385097 52562747 + 54717866 54895516 + 1580863;6480464;8554872 11178108;11856727;11956164;11980908;12122117;12477932;12578829;12907454;1445946;14699162;15489334;16880209;18029348;18478159;19199708;19966785;20237496;20379614;20484105;20888820;21198862;21304180;22349512;23217148;23390068;24654937;2507536;8619474;9066979;9110174 5874 K7EJ38;K7ES41;O00194 ABBA01056104;ABBA01056105;AC007673;AC098848;AC100776;AF131784;AF329499;AF498954;AK314115;AMYH02034765;AMYH02034766;AMYH02034767;BC027474;CH471096;NM_004163;U57093;XM_005266733;XM_005266734;XM_006722518 AAC51194;AAH27474;AAK11243;AAM21102;ABM83356;ABW03319;BAG36807;EAW63010;NP_004154;O00194;XP_005266790;XP_005266791;XP_006722581 Hs.25318 1755439;1793790;1793792;1848031;2217888 PMC29082P1;PMC29082P2;RAB27B_3349;RH12216;SHGC-142310 C25KG OTTHUMP00000163562;ras-related protein Rab-27B APPROVED protein-coding ENSG00000041353 HGNC:9767 04846 603869 VALIDATED 1353989 RAB11FIP3 RAB11 family interacting protein 3 (class II) Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 676072 772867 + 475649 572485 + 425649 522485 + 1580863;6480464;6907045;8554872 10593962;11157797;11481332;11495908;11535061;11913976;12470645;12477932;12800201;15158446;15489334;15601896;15616553;15883036;16148947;17007872;17030804;17394487;17628206;18029348;18511905;18685082;19327867;20214888;20736163;22348143;9734811 9727 F6X994;H0Y7F9;O75154;X6RFI8 AB014565;ABBA01030364;ABBA01030365;ABBA01030366;ABBA01030367;ABBA01030368;ABBA01030369;ABBA01030370;ABBA01030371;ABBA01030372;AC208188;AC210878;AE006463;AF395731;AK293644;AK303061;AL023881;AL049542;AMYH02031194;AMYH02031195;AY130007;BC051360;CH471112;DC395000;DC404361;NM_001142272;NM_014700;XM_005255713;XM_005255714;XM_005255715;XM_005255717;XM_005255718;XM_006720987;XM_006720988;XM_006725242;XM_006725243;XM_006725244;XM_006725245;XM_006725246;XM_006725247;XM_006725248;Z98882 AAH51360;AAK61232;AAL12940;AAN05091;BAA31640;BAG57098;BAG64178;EAW85805;EAW85806;EAW85807;EAW85808;EAW85809;EAW85810;NP_001135744;NP_055515;O75154;XP_005255770;XP_005255771;XP_005255772;XP_005255774;XP_005255775;XP_006721050;XP_006721051;XP_006725305;XP_006725306;XP_006725307;XP_006725308;XP_006725309;XP_006725310;XP_006725311 Hs.531642 1684256;1757247;1800916;1802546;1805176;1807440;1807964;1808954;1809248;1809402;1809572;1809574;1810184;1810416;1810994;1811070;1811534;1811874;1811942;1812096;1813392;1813798;1813800;1814916;1814990;1815962;1816754;1817548;1817668;1817992;1818082;1819322;1819648;1820218;1820602;1821056;1821324;1821730;1822092;1822236;1824414;1824962;1825210;1827148;1827796;1829622;1829772;1830664;1830938;1832520;1832982;1833372;1834558;1836050;1837876;1837954;1840158;1841870;1842326;1843730;1844036;1846194;1846482;2049528;2049530;2049532;2049534;2049536;2049538;2049540;2049542;2049544;2049546;2049548;2049550;2049552;2049554;2049556;2049558;2049560;2049562;2049564;2049566;2049568;2049570;2049572;2049574;2049576;2049578;2049580;2049582;2049584;2049586;2049588;2049590;2049592;2049594;2049596;2049598;2049600;2049602;2049604;2049606;2049608;2049610;2049612;2049614;2049616;2049618;2049620;2049622;2049624;2049626;2049628;2049630;2049632;2049634;2049636;2049638;2049640;2049642;2049644;2049646;2049648;2049650;2049652;2049654;2049656;2049658;2049660;2049662;2049664;2049666;2049668;2049670;2049672;2049674;2049676;2049678;2049680;2049682;2049684;2049686;2049688;2049690;2049692;2049694;2049696;2049698;2049700;2049702;2049704;2049706;2049708;2049710;2049712;2049714;2049716;2049718;2049720;2049722;2049724;2049726;2049728;2049730;2049732;2049734;2049736;2049738;2049740;2049742;2049744;2049746;2049748;2049750;2049752;2049754;2049756;2049758;2049760;2049762;2049764;2049766;2049768;2049770;2049772;2049774;2049776;2049778;2049780;2049782;2049784;2049786;2049788;2049790;2049792;2049794;2049796;2049798;2049800;2049802;2049804;2049806;2049808;2049810;2049812;2049814;2049816;2049818;2049820;2049822;2049824;2049826;2049828;2049830;2049832;2049834;2049836;2049838;2049840;2049842;2049844;2049846;2049848;2049850;2049852;2049854;2049856;2049858;2049860;2049862;2049864;2049866;2049868;2049870;2049872;2049874;2049876;2049878;2049880;2049882;2049884;2049886;2049888;2049890;2049892;2049894;2049896;2049898;2049900;2049902;2049904;2049906;2049908;2049910;2049912;2049914;2049916;2049918;2049920;2049922;2049924;2049926;2049928;2049930;2049932;2049934;2049936;2049938;2049940;2049942;2049944;2049946;2049948;2049950;2049952;2049954;2049956;2049958;2049960;2049962;2049964;2049966;2049968;2049970;2049972;2049974;2049976;2049978;2049980;2049982;2049984;2049986;2049988;2049990;2049992;2049994;2049996;2049998;2050000;2050002;2050004;2050006;2050008;2050010;2050012;2050014;2050016;2050018;2050020;2050022;2050024;2050026;2050028;2050030;2050032;2050034;2050036;2050038;2050040;2050042;2050044;2050046;2050048;2050050;2050052;2050054;2050056;2050058;2050060;2050062;2050064;2050066;2050068;2050070;2050072;2050074;2050076;2050078;2050080;2050082;2050084;2050086;2050088;2050090;2050092;2050094;2050096;2050098;2050100;2050102;2050104;2050106;2050108;2050110;2050112;2050114;2050116;2050118;2050120;2050122;2050124;2050126;2050128;2050130;2050132;2050134;2050136;2050138;2050140;2050142;2050144;2050146;2050148;2050150;2050152;2050154;2050156;2050158;2050160;2050162;2050164;2050166;2050168;2050170;2104770;2104772;2104774;2104776;2104778;2104780;2104782;2104784;2104786;2104788;2104790;2104792;2104794;2104796;2104798;2104800;2104802;2104804;2104806;2104808;2104810;2104812;2104814;2104816;2104818;2104820;2104822;2104824;2104826;2104828;2104830;2104832;2104834;2104836;2104838;2104840;2104842;2104844;2104846;2104848;2104850;2104852;2104854;2104856;2104858;2104860;2104862;2104864;2104866;2104868;2104870;2104872;2104874;2104876;2104878;2104880;2104882;2104884;2104886;2104888;2104890;2104892;2104894;2150721;5685039 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CART1;KIAA0665;Rab11-FIP3 EF hands-containing Rab-interacting protein;FIP3-Rab11;MU-MB-17.148;OTTHUMP00000045511;OTTHUMP00000197173;PAC196A12.1;arfophilin-1;cytoplasmic adaptor for RAR and TR;eferin;rab11 family-interacting protein 3;rab11-family interacting protein 3 APPROVED protein-coding ENSG00000090565 HGNC:17224 18521 608738 VALIDATED 1344346 RAB24 RAB24, member RAS oncogene family RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking (Olkkonen et al., 1993 [PubMed 8126105]).[supplied by OMIM, Aug 2009] 5 5 5 q35.3 171770617 171773163 + 176728199 176730744 - 177301190 177303744 - 1580863;6480464;8554872 10660536;11752456;12323076;12477932;14702039;15489334;16034420;16344560;20360680;20562859;20877624;21139048;21890473;21906983;23387408;8126105 53917 D6RFW3;F8W8H5;Q969Q5 ABBA01033458;AC146507;AF087904;AF258583;AI868941;AK021761;AK308155;AL833898;AMYH02012833;AV698158;BC010006;BC015534;BC021263;BT007268;CH471195;DA058886;DA898352;NM_001031677;NM_130781;NR_109789;NR_109790 AAG23786;AAH10006;AAH15534;AAH21263;AAP35932;AAP97202;ABM81962;ABM85141;ACE86545;ACE87226;BAB13887;CAD38754;EAW85024;EAW85025;EAW85026;EAW85027;EAW85028;EAW85029;NP_001026847;NP_570137;Q969Q5 Hs.16258 1653573;2217886 RAB24_2676;WI-11343 OTTHUMP00000161435;OTTHUMP00000161437;OTTHUMP00000223588;ras-related protein Rab-24 APPROVED protein-coding ENSG00000169228 HGNC:9765 06697 612415 VALIDATED 736462 RAB28 RAB28, member RAS oncogene family This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009] 4 4 4 p15.33 13835557 13952196 - 13343863 13485989 - 13342239 13484365 - 633759;1580863;6480464;8699517;7240710;8554872 8647132 10966806;11387043;12477932;15489334;16344560;17207965;17411337;18187620;18976975;19026641;20379614;21139048;21832049;23251661;23746546;24347629 9364 H0Y927;H0Y9G4;H0Y9S6;P51157;Q8WVF3 ABBA01032543;AC006226;AC006445;AC020729;AF498955;AMYH02008784;BC018067;BC035054;BQ021120;CH471069;CX165950;DA369194;NG_033891;NM_001017979;NM_001159601;NM_004249;X94703;XM_005248215;XM_005248217;XM_005248218;XM_006713987 AAH18067;AAH35054;AAM21103;ADQ32473;CAA64364;EAW92711;EAW92712;NP_001017979;NP_001153073;NP_004240;P51157;XP_005248272;XP_005248274;XP_005248275;XP_006714050 Hs.656060 1648222;1655203;1724471;1730020;1849747;2110163;2126046;2176850;2189071 D4S1228;D4S2874;D4S329;G65190;M95310;RH122401;SHGC-31764;SHGC-59707;st362c2-72j1 CORD18;MGC41862 OTTHUMP00000115646;OTTHUMP00000115647;OTTHUMP00000217481;ras-related protein Rab-28 APPROVED protein-coding ENSG00000157869 HGNC:9768 06699 612994;615374 REVIEWED 9586294 RAB28P3 RAB28, member RAS oncogene family pseudogene 3 9 9 p11.2 44476710 44478592 - 42492527 42494409 + 100132772 AMYH02020232;BX088588;BX088651;BX649597;NG_011917 pseudo HGNC:50382 INFERRED 1354398 RAB27A RAB27A, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 15 15 15 q15-q21.1 32384380 32470592 - 55495164 55582034 - 55202966 55289832 - 1601587;1580863;1600821;2311087;6480464;7240710;8554872;8699517 12058346;12531900;19295123 10571040;10835631;10931946;11266473;11266474;11752456;11773082;11856727;11865063;11980908;12006666;12051743;12062444;12101244;12107410;12122117;12148598;12176990;12189142;12446441;12477932;12578829;12590134;12643545;12802062;14593078;14699162;15059972;15186776;15489334;15548590;16004602;16169070;16278825;16344560;16630545;16762324;16880209;16923811;16965270;17045265;17081065;17090228;17237785;17255357;17352418;18029348;18266782;18281284;18311812;18337447;18350256;18397837;18403584;18559336;18571497;18768832;18812475;18832576;19056867;19270261;19704116;19717423;19953648;19966785;20083228;20237496;20370853;20877725;21129771;21139048;21169636;21170347;21314004;21669283;21693760;21740491;21832049;21883982;21890473;22268729;22753498;22844437;23160464;23164453;23176485;23553027;23716592;23810987;23986549;24043286;24146068;24248336;24404184;24561123;24584932;24700782;2507536;7592656;9066979 5873 A2RU94;H3BN55;H3BS49;H3BU81;H3BUD9;H3BVH7;P51159 ABBA01039033;ABBA01039034;ABBA01039035;AC011912;AC018926;AF125393;AF154840;AF443871;AF498953;AK312836;AMYH02030480;AMYH02030481;AMYH02030482;AMYH02030483;AV661679;BC107680;BC132800;BC136423;BM014705;CA398159;CA437806;CH471082;CR457076;CR536496;CR541693;DA182503;DA553342;KF456051;NG_009103;NM_004580;NM_183234;NM_183235;NM_183236;U38654;U57094;XM_005254576;XM_005254577 AAC50271;AAC51195;AAD43049;AAD47629;AAI07681;AAI32801;AAI36424;AAL39097;AAM21101;ADR82884;BAG35690;CAG33357;CAG38735;CAG46494;EAW77476;EAW77477;EAW77478;EAW77479;NP_004571;NP_899057;NP_899058;NP_899059;P51159;XP_005254633;XP_005254634 Hs.654978;Hs.735555 1667687;1689209;1793914;1793916;1796620;2119228;2148510;5014051;5021872;5022651 D11S2921;D8S2278;PMC307551P1;PMC307551P2;RAB27A_1662;RH77982;RH93587;SHGC-17600;STS-H96653;sY3084 GS2;HsT18676;MGC117246;RAB27;RAM;rab-27 GTP-binding protein Ram;OTTHUMP00000162796;ras-related protein Rab-27A APPROVED protein-coding ENSG00000069974 HGNC:9766 04845 603868;607624 REVIEWED 68446 RAB2A RAB2A, member RAS oncogene family The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 8 8 8 q12.1 57418606 57523216 + 61429469 61536203 + 60516910 60623644 + 2302393;2302395;2302397;2306494;6480464;8554872 17629673;17717074;18171431;18570632 10512627;10996854;11739401;12376746;12477932;14570876;15485821;15489334;16034420;16189514;16344560;1648736;16923123;17081065;17207965;17562788;17684057;17716866;17897319;18187231;18187620;19056867;20195357;20308991;20639865;21139048;21501366;21890473;21900206;21906983;21963094;22053931;22304920;22939629;23077236;24251537;24332808;24816145;2501306;25015289;3057444;7782346;8619474;8910601;9110174;9792283 5862 E9PKL7;H0YD31;H0YDL5;H7C125;P61019 ABBA01041811;ABBA01041812;ABBA01041813;AC068389;AC079065;AF070629;AF498930;AK297576;AK312344;AL137321;AMYH02018053;AMYH02018054;AW301641;AY034106;BC008929;BT019695;CH471068;DA648682;M28213;NM_001242644;NM_002865;X12953 AAA60241;AAC25389;AAH08929;AAM21078;AAV38501;ADQ32424;BAG35265;BAG59967;CAA31411;EAW86827;EAW86828;NP_001229573;NP_002856;P61019 Hs.369017 1651827;1664684;1668703;1671143;1690708;1735792;1798064;1847629;1857459;2147471 D8S1394E;D8S1405E;D8S1613;D8S1899;D8S1929;RAB2_2543;RH70011;RH92689;SHGC-31082;STS-R00195 LHX;RAB2 OTTHUMP00000165916;OTTHUMP00000165919;OTTHUMP00000229371;OTTHUMP00000229372;RAB2, member RAS oncogene family;ras-related protein Rab-2A;small GTP binding protein RAB2A APPROVED protein-coding ENSG00000104388 HGNC:9763 01539 179509 REVIEWED 8553118 RAB28P1 RAB28, member RAS oncogene family pseudogene 1 9 9 p12 41879603 41881484 + 39734585 39736466 + 100133203 BX664615;NG_011918 pseudo HGNC:50380 INFERRED 1319277 RAB2B RAB2B, member RAS oncogene family Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006] 14 14 14 q11.2 1792578 1810513 - 21927179 21945132 - 21459020 21476973 - 1580863;6480464 12376746;12477932;14702039;15203218;15489334;15761153;19322201;19966785;21139048;21832049;21890473;22304920;23824909 84932 B4DUD4;E9PE37;Q8WUD1 ABBA01061251;ABBA01061252;ABBA01061253;AF091029;AF468652;AK027730;AK296057;AK300599;AK307349;AK315354;AL161747;AMYH02028840;BC020839;BC066366;BG535306;BX647601;CD634472;CH471078;NM_001163380;NM_032846;NR_028074;XM_006720278 AAF00042;AAH20839;AAH66366;AAN86142;ABM84169;ABM87571;BAB55326;BAG37750;BAG58820;BAG62296;CAI46103;EAW66382;EAW66383;EAW66384;NP_001156852;NP_116235;Q8WUD1;XP_006720341 Hs.22399 1796622;2167675;2171677;5015961;5016596;5022200;5022588;5022649;5022651;5037552 D11S2875;D11S2921;D14S1310;D15S1477;D5S1597E;D8S2279;GDB:631802;L18426;RAB2B_1055;WI-15637 FLJ14824 GTP-binding protein RAB2B;OTTHUMP00000195135;RAS family, member RAB2B;ras-related protein Rab-2B APPROVED protein-coding ENSG00000129472 HGNC:20246 06312 607466 VALIDATED 7249757 RAB30-AS1 RAB30 antisense RNA 1 (head to head) 11 11 11 80092884 80094773 + 82783108 82785008 + 83072066 83073712 + 12477932 100506233 ABBA01017368;AI628578;AMYH02025190;AP001767;BC031316;BU664621;HG504052;HG504054;NR_038903 Hs.503429 1846859 A008Q04 RP11-113K21.5 ncrna ENSG00000246067 HGNC:48672 VALIDATED 1315728 RAB23 RAB23, member RAS oncogene family This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 6 p11 58716680 58750177 - 57051790 57087112 - 57186992 57222314 - 1580863;6480464;6484113;6907045;7240710;8554872;8699517 11042152;12477932;12878157;14574404;14612978;14617350;15489334;16344560;17373734;17503333;17646400;18485483;18559507;20358613;21139048;21412941;21540310;21890473;21963094;21988832;22365972;22452336;22724020;23007279;23599695;23948406;24250222 51715 Q9ULC3 AB025427;AB034244;ABBA01050484;AC245511;AF161486;AF498951;AK311123;AK313796;AL031321;AMYH02013783;AU280196;AY585189;BC015021;CH471081;CR749371;DA021294;DA391757;DA997359;NG_012170;NM_001278666;NM_001278667;NM_001278668;NM_016277;NM_183227;NR_103822;XM_005249179 AAF29101;AAH15021;AAM21099;AAT79492;ACE86873;ACE87561;BAA87324;BAB40309;BAG36532;CAH18224;EAX04476;EAX04477;EAX04478;EAX04479;NP_001265595;NP_001265596;NP_001265597;NP_057361;NP_899050;Q9ULC3;XP_005249236 Hs.555016 1669361;1699098;1796618;2125604 D6S1786;RAB23_476;RH103125;STS-W60718 DKFZp781H0695;HSPC137;MGC8900 OTTHUMP00000016667;RAB family small GTP binding protein RAB 23;ras-related protein Rab-23 APPROVED protein-coding ENSG00000112210 HGNC:14263 05850 201000;606144 REVIEWED 1318219 RAB25 RAB25, member RAS oncogene family RAB proteins, such as RAB25, are members of the RAS superfamily of small GTPases that are involved in membrane trafficking. Members of the RAB11 subfamily, including RAB25, control the return of internalized membrane-associated moieties to the cell surface (Caswell et al., 2007 [PubMed 17925226]).[supplied by OMIM, Aug 2009] 1 1 1 q22 129104027 129113356 + 156030966 156040295 + 156061175 156070504 + 1580863;6480464;8554872 11408590;11481332;11495908;11591653;11697911;12477932;15489334;15502842;15761153;16473633;17207965;17255364;17353931;17393986;17507647;17925226;18029348;19056867;19795443;20197623;21075212;21292315;21906983;22249560;22253197;22613965;22644676;22991305;23030522;23176489;23340300;23345591;23722651;24056041;24403269;8360141;9389793 57111 P57735 ABBA01016672;ABBA01016673;AF083124;AF274025;AL355388;AMYH02001960;AMYH02001961;BC004416;BC009831;BC033322;CH471121;NM_020387 AAF98238;AAH04416;AAH09831;AAH33322;AAM69362;ACE86747;ACE87433;ADQ33138;EAW53003;NP_065120;P57735 Hs.632469 1665859;2170163 A005X41;WI-11851 CATX-8;RAB11C OTTHUMP00000018847;ras-related protein Rab-25 APPROVED protein-coding ENSG00000132698 HGNC:18238 06698 612942 PROVISIONAL 1345972 RAB32 RAB32, member RAS oncogene family Small GTP-binding proteins of the RAB family, such as RAB32, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Aug 2009] 6 6 6 q24.3 147605264 147616521 + 146864828 146876086 + 146543692 146554950 + 1580863;6480464 11784320;12186851;12477932;12535645;12672969;14574404;15489334;16557577;19593531;19717423;20877624;21139048;22019778;22511774;23084991;24250222 10981 Q13637 ABBA01025720;AF498958;AK312202;AL133539;AMYH02014655;BC015061;BT020016;CH471051;NM_006834;U59878;U71127 AAB02833;AAB09599;AAH15061;AAM21106;AAV38819;ABM83808;ABM87130;BAG35135;EAW47833;NP_006825;Q13637 Hs.287714 1754125;1770668;2175239 D6S2139;SHGC-132159;STS-N33379 OTTHUMP00000017369;ras-related protein Rab-32 APPROVED protein-coding ENSG00000118508 HGNC:9772 06700 612906 PROVISIONAL 1344985 RAB33A RAB33A, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. [provided by RefSeq, Jul 2008] X X X q26.1 129692335 129705325 + 129305773 129318844 + 130171799 130184870 + 1580863;6480464 12477932;14702039;15489334;15772651;16136464;16189514;18448665;19060904;19717423;23088713;7688322;9512502;9712825 9363 Q14088 ABBA01047900;ABBA01047901;ABBA01047902;AF498959;AK094927;AL139234;AMYH02040476;AMYH02040477;AMYH02040478;BC001157;BC001704;BC009996;BT007038;CH471107;D14889;NG_012558;NM_004794 AAH01157;AAH09996;AAM21107;AAP35687;ADZ15818;BAA03606;EAX11808;NP_004785;Q14088 Hs.654356 MGC1488;RabS10 OTTHUMP00000024006;Small GTP-binding protein S10;ras-related protein Rab-33A APPROVED protein-coding ENSG00000134594 HGNC:9773 02272 300333 REVIEWED 1318074 RAB33B RAB33B, member RAS oncogene family Small GTP-binding proteins of the RAB family, such as RAB33B, play important roles at defined steps of vesicular transport in protein secretion and the endocytosis pathway (Zheng et al., 1998 [PubMed 9512502]).[supplied by OMIM, Feb 2010] 4 4 4 q28 137707125 137729232 + 140374961 140397070 + 139453807 139475916 + 1580863;4892310;6480464;8699517;7240710;8554872 20548331 11230166;11256614;11718716;12477932;15489334;15761153;15815621;16923123;18448665;21139048;22178446;22652534;23091056;24250222;9512502 83452 Q5U602;Q9H082 ABBA01069959;ABBA01069960;ABBA01069961;AC114743;AF350420;AK313685;AL136904;AMYH02010201;BC036064;BC111977;CH471056;NM_031296 AAH36064;AAI11978;AAL83916;AAY40936;BAG36434;CAB66838;EAX05116;NP_112586;Q9H082 Hs.591679 5022578 D1S1423 DKFZp434G099;MGC138182;SMC2 OTTHUMP00000164542;ras-related protein Rab-33B APPROVED protein-coding ENSG00000172007 HGNC:16075 05808 605950;615222 PROVISIONAL 736472 RAB29 RAB29, member RAS oncogene family ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); INVOLVED IN Golgi organization; positive regulation of intracellular protein transport; retrograde transport, plasma membrane to Golgi; FOUND IN cytoplasm; extracellular vesicular exosome; trans-Golgi network; INTERACTS WITH (-)-demecolcine; atrazine; benzo[a]pyrene diol epoxide I 1 1 1 q32 178873347 178880842 - 205737114 205744615 - 205767986 205775487 - 1580863;6480464 12477932;14720509;15231747;15489334;16344560;19056867;19915576;20683486;21139048;21812739;21963094;22022256;22232350;23269536;23395371;23449627;23820587;24510904;8125298;9284931 8934 B2R7I9;E9PL56;O14966;Q6FGU7 ABBA01027406;AC119673;AK223514;AK303879;AK308359;AK311085;AK313000;AMYH02002551;BC002585;BT019540;BX647960;CF528995;CH471067;CR542010;D84488;DA284582;DA377295;DC314882;DC365059;NM_001135662;NM_001135663;NM_001135664;NM_003929;XM_005245569;XM_005245570;XM_005245571;XM_006711602;XM_006711603;XM_006711604;XM_006711605;XM_006711606 AAH02585;AAV38347;ABM82843;ABM87837;ABW03455;BAA22160;BAD97234;BAG35836;BAG64815;CAG46807;EAW91580;EAW91581;NP_001129134;NP_001129135;NP_001129136;NP_003920;O14966;XP_005245626;XP_005245627;XP_005245628;XP_006711665;XP_006711666;XP_006711667;XP_006711668;XP_006711669 Hs.115325 2109725;2163201;5015619;5037552 D11S3114;D8S2279;RAB7L1__6957;SHGC-76255 DKFZp686P1051;RAB7L;RAB7L1 OTTHUMP00000034232;OTTHUMP00000034233;OTTHUMP00000034234;OTTHUMP00000228585;OTTHUMP00000228586;RAB7, member RAS oncogene family-like 1;rab-7-like protein 1;ras-related protein Rab-29;ras-related protein Rab-7L1 APPROVED protein-coding ENSG00000117280 HGNC:9789 11962 603949 VALIDATED 1314936 RAB35 RAB35, member RAS oncogene family ENCODES a protein that exhibits GDP binding; GTP binding; GTPase activity; INVOLVED IN antigen processing and presentation; endosomal transport; GTP catabolic process; FOUND IN cell projection membrane; clathrin-coated endocytic vesicle; coated pit; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 12 12 12 q24.31 120166012 120187759 - 120532899 120554643 - 120095095 120116839 - 1580863;6480464 12477932;14702039;14968112;15342556;15489334;16169070;16541075;16600182;16950109;17081065;17562788;18448665;18450757;18976975;19056867;19717423;19729655;19738201;20360680;20379614;20877624;21139048;21565611;21674799;21706022;21832049;21853274;21906983;21963094;21987572;22065758;22072793;22178446;22226746;22505724;23000965;23246001;23264734;23353182;24250222;24255178;24332808;24816145;25015289;7811277 11021 F5H157;F5H7F8;Q15286 ABBA01020094;ABBA01020095;AC004812;AF498960;AI042456;AK001309;AK125543;AK298391;AK300127;AK304620;AK312538;AMYH02027363;BC015931;BC017753;BM467132;BP303346;BQ233709;BT020024;CH471054;CR536486;CR541683;CS174348;DC349830;DC370610;DC408044;JA417755;NM_001167606;NM_006861;X79781 AAC83182;AAH15931;AAM21108;AAV38827;ABM84676;ABM92203;ABM92220;BAG35437;BAG60626;BAG61918;BAG65402;CAA56177;CAG38725;CAG46484;CAJ34551;CCD32725;EAW98163;EAW98164;NP_001161078;NP_006852;Q15286 Hs.524788 1670185;1681492;1688572;1796624;2159688 G29084;RAB35_771;RH91346;RH98593;WI-16071 H-ray;RAB1C;RAY GTP-binding protein RAY;OTTHUMP00000240256;OTTHUMP00000240257;OTTHUMP00000240258;OTTHUMP00000240259;ras-related protein Rab-35;ras-related protein rab-1c (GTP-binding protein ray) protein-coding ENSG00000111737 HGNC:9774 05010 604199 VALIDATED 1319882 RAB30 RAB30, member RAS oncogene family ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); INVOLVED IN Golgi organization; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cis-Golgi network; Golgi cisterna; trans-Golgi network; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 11 11 11 q12-q14 80002232 80092649 - 82684177 82782965 - 82973133 83071923 - 1580863;6480464;8554872 12477932;14702039;15342556;15489334;15761153;16344560;20360680;21988832;22188167;22566634;23000965;23326517;23615442;8863739;9792283 27314 A8K5R1;E9PI18;E9PJQ5;E9PLM3;E9PMJ1;E9PNB9;E9PPW9;E9PQ07;E9PRF7;E9PRX0;E9PS06;H0YDK7;Q15771 ABBA01017368;ABBA01017369;AF498956;AK092185;AK291376;AK310082;AK312323;AMYH02025190;AP000893;AP001767;BC014213;BC032890;BP310715;BP336371;BX641138;CH471076;CR542106;DB151524;NM_001286059;NM_001286060;NM_001286061;NM_014488;U57092 AAC50774;AAH14213;AAM21104;ABM83557;ABM86797;ABW03515;BAF84065;BAG35245;CAE46061;CAG46903;EAW75078;EAW75079;EAW75080;EAW75081;NP_001272988;NP_001272989;NP_001272990;NP_055303;Q15771 Hs.40758;Hs.594773 1651125;1667473;1689161;1690330;1776439 D11S4409;RH93644;RH94130;SHGC-53256;STS-H99054 OTTHUMP00000234567;OTTHUMP00000234568;OTTHUMP00000234569;OTTHUMP00000234571;OTTHUMP00000234572;OTTHUMP00000234573;ras-related protein Rab-30 protein-coding ENSG00000137502 HGNC:9770 05750 605693 VALIDATED 734295 RAB38 RAB38, member RAS oncogene family ENCODES a protein that exhibits AP-1 adaptor complex binding; AP-3 adaptor complex binding; GTP-dependent protein binding; INVOLVED IN endosome to melanosome transport; melanosome organization; phagosome acidification; ASSOCIATED WITH Albuminuria (ortholog); Proteinuria (ortholog); FOUND IN early endosome; melanosome; membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; isotretinoin 11 11 11 q14 86723503 86785679 + 87846415 87908635 - 88113247 88175467 - 1580863;1357409;6480464;8554872 15758045 10910072;11337364;12477932;12643545;12850305;15489334;15761153;17081065;18477474;19010793;20103624;21139048;21832049;22511774;23084991;24026199;24875359 23682 H0YDB7;H0YEA4;P57729 ABBA01011539;ABBA01011540;ABBA01011541;AF136172;AF235022;AL546159;AMYH02025259;AP001642;AP005436;BC015808;BT009842;CH471185;DQ178619;NM_022337;XM_005273860;XM_006718807 AAG30731;AAH15808;AAP88844;AAP97262;ABA03166;ABM82052;ABM85231;EAW59365;EAW59366;NP_071732;P57729;XP_005273917;XP_006718870 Hs.591975 1666821;1687554;1737045;1756887;2108885;2126330 D11S2791;D11S4623;RAB38_243.2;RH93854;SHGC-144052;STS-N33002 NY-MEL-1;rrGTPbp OTTHUMP00000235620;OTTHUMP00000235622;Rab-related GTP-binding protein;melanoma antigen NY-MEL-1;rab38, member of ras oncogene family;ras-related protein Rab-38 protein-coding ENSG00000123892 HGNC:9776 05889 606281 VALIDATED 1354105 RAB39B RAB39B, member RAS oncogene family This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked mental retardation. [provided by RefSeq, Aug 2013] X X X q28 154646041 154652367 - 154487526 154493852 - 155258234 155264589 - 1580863;6480464;7240710;8699517;8554872 11050621;11076863;11230166;11256614;12438742;12477932;14702039;15489334;15489336;15772651;16381901;16923123;18029348;20159109;21076407;21139048;22505724;22615763;23000965;23871722;24006491;24357492;8889548 116442 Q96DA2 ABBA01029135;ABBA01029136;AK056209;AL356738;AL834460;AMYH02040867;AY052478;BC009714;BM721593;BX108796;BX682237;CH471172;H30898;NG_012626;NM_171998 AAH09714;AAL12244;CAD39120;CAI41468;CAL38722;EAW72626;NP_741995;Q96DA2 Hs.632832 2122415 A007I18 MRX72 OTTHUMP00000024247;mental retardation, X-linked 72;ras-related protein Rab-39B APPROVED protein-coding ENSG00000155961 HGNC:16499 06703 300271;300774 REVIEWED 1312361 RAB37 RAB37, member RAS oncogene family Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006] 17 17 17 q25.1 69260244 69336655 + 72667256 72743474 + 74671117 74747335 + 737633;1580863;6480464;8554872 12477932 10722846;12578829;12665801;14702039;15308636;15489334;16189514;16344560;18687502;19148500;20031577;22082156;22178446;23000965;23372429;23969696 326624 A8MSP2;A8MTC6;A8MZI4;B7Z3L0;Q96AX2 ABBA01028827;ABBA01028828;ABBA01028829;ABBA01028830;ABBA01028831;ABBA01028832;ABBA01028833;AC016888;AC064805;AK054846;AK057069;AK098068;AK127073;AK290202;AK296062;AK296172;AK303442;AMYH02033979;AX236082;BC016615;BC040547;CH471099;DA164538;KF456316;NM_001006638;NM_001163989;NM_001163990;NM_175738;XM_005257288;XM_005257289 AAH16615;AAH40547;BAC05227;BAF82891;BAG51433;BAG51857;BAG54434;BAH12246;BAH12272;BAH13962;CAC88255;EAW89177;EAW89178;EAW89179;EAW89180;EAW89181;EAW89182;NP_001006639;NP_001157461;NP_001157462;NP_783865;Q96AX2;XP_005257345;XP_005257346 Hs.351413 1298312;1653658;1683737;1723241;2121546;2145994 D17S1301;D17S625;D17S709;G10539;RH122307;RH92683 FLJ30284;FLJ32507 OTTHUMP00000165790;OTTHUMP00000165791;OTTHUMP00000165792;OTTHUMP00000165793;OTTHUMP00000165794;OTTHUMP00000165795;OTTHUMP00000165796;OTTHUMP00000233797;OTTHUMP00000233798;OTTHUMP00000233799;OTTHUMP00000233800;RAB37, member of RAS oncogene family;Rab37-like;ras-related protein Rab-37 APPROVED protein-coding ENSG00000172794 HGNC:30268 06702 609956 VALIDATED 1347973 RAB36 RAB36, member RAS oncogene family ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN protein transport (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; fonofos; parathion 22 22 22 q11.22 7302063 7321070 + 23487513 23506531 + 23145326 23164344 + 1580863;6480464;8554872 10591208;10607907;11076863;12477932;15461802;15489334;16021519;16923123;19961360;20360680;22637480;9920784 9609 H7C0Z1;O95755 AB023061;ABBA01055103;AC000029;AC000102;AF133588;AK296052;AMYH02038123;AY336745;BC017436;BC104989;BC104991;BE886845;CH471095;CR456553;NM_004914;XM_005261859;XM_006724381;XM_006724382 AAF02485;AAI04990;AAI04992;AAI11853;AAQ16115;BAA75195;BAG58816;CAG30439;CAK54584;CAK54883;EAW59561;EAW59562;NP_004905;O95755;XP_005261916;XP_006724444;XP_006724445 Hs.369557 2125985;5015404;5016478;5021228;5022200;5022578;5037552 D1S1423;D8S2279;GDB:312794;GDB:434012;L17705;L18426;STS-H69004 OTTHUMP00000197912;OTTHUMP00000197913;ras-related protein Rab-36;small GTP-binding protein Rab36 protein-coding ENSG00000100228 HGNC:9775 05743 605662 VALIDATED 734458 RAB31 RAB31, member RAS oncogene family Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009] 18 18 18 p11.3 9592158 9746168 + 9708228 9862553 + 9708231 9862556 + 1580863;6480464;6907045 1178432;11784320;12477932;15146197;15489334;16169070;16344560;17081983;17189207;17678623;17952591;19322201;19725050;20379614;21139048;21586568;21848504;21900206;22792175;22920728;22939629;24644286;8125298;8863739;8889548 11031 J3KRU3;J3KSM8;J3QR51;Q13636 ABBA01049954;ABBA01049955;ABBA01049956;ABBA01049957;AC006238;AF183421;AF234995;AF498957;AI198863;AK223505;AK314809;AMYH02034292;AMYH02034293;AP000902;BC001148;BT020027;BT020028;BU608212;BU944638;CB243279;CH471113;CK005533;CN429637;CR407659;DA068356;NM_006868;U57091;U59877 AAB02832;AAC50773;AAG09690;AAG13847;AAH01148;AAM21105;AAV38830;AAV38831;ABM83504;ABM86720;BAD97225;BAG37334;CAG28587;EAX01595;EAX01596;NP_006859;Q13636 Hs.744887;Hs.99528 1686322;1734562;1740211;1854380;1857092;2135878;2153916;2172115;2174129;5120431;7186594 D18S1072;D18S1226;D18S362E;D18S907E;D18S923E;GDB:315753;RH17881;RH69934;RH70486;SHGC-34486 Rab22B gtp-binding protein rab0;ras-related protein Rab-22B;ras-related protein Rab-31 APPROVED protein-coding ENSG00000168461 HGNC:9771 05751 605694 VALIDATED 736647 RAB3D RAB3D, member RAS oncogene family ENCODES a protein that exhibits myosin V binding; INVOLVED IN positive regulation of regulated secretory pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; ethyl methanesulfonate; hydralazine 19 19 19 p13.2 11327595 11345218 - 11432722 11450344 - 11322046 11339668 - 1580863;6480464 10022613;10023084;10072586;11903042;12192047;12477932;12578829;14566969;15159548;15257287;15489334;16344560;18448665;19056867;20038531;20360680;20877624;21163940;21702009;21832049;23505323;23526941;7532276;9178809 9545 O95716 ABBA01029860;ABBA01029861;ABBA01029862;ABBA01029863;ABBA01029864;AC011472;AC024575;AC098777;AF019226;AF081353;AF498933;AK313538;AMYH02035526;BC007960;BC016471;BC035309;BQ011121;CH471106;DA241826;FB775560;NM_004283 AAC72918;AAH16471;AAM21081;BAG36315;CAV30737;EAW84188;EAW84189;EAW84190;NP_004274;O95716 Hs.744916 1672504;1725697;1796628;5015879;5016478;5037552 D8S2279;G62051;GDB:314949;GDB:434012;HSC1UF062;RAB3D_775 D2-2;GOV;RAB16;RAD3D Rab3D upregulated with myeloid differentiation;glioblastoma overexpressed;ras-related protein Rab-3D protein-coding ENSG00000105514 HGNC:9779 05070 604350 VALIDATED 1604828 RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] 2 2 2 q21.3 129522764 129641200 + 135809835 135928280 + 135052265 135176394 + 6480464;7240710;8554872;8699517 10532171;10859313;12477932;12786944;14593078;14702039;15489334;15696165;16344560;16484223;16923123;17081983;17567985;18029348;18286824;19056867;19077034;20512159;20562859;20686565;21139048;21890473;21906983;21979947;22337587;22768674;22863883;22876574;22990118;23176487;23383273;23420520;23593153;23833071;24097068;24885147;24891604;7584044;8249951;9030515;9733780;9852129 22930 B9A6J2;C9J1R5;Q15042 AB449877;ABBA01028181;ABBA01028182;ABBA01028183;ABBA01028184;ABBA01028185;ABBA01028186;AC017031;AC020602;AK022494;AK056058;AK309118;AL096752;AMYH02004841;AMYH02004842;AMYH02004843;AMYH02004844;BC020303;BC022977;BC030992;BC036732;BC071602;BC146809;BP872264;CH471058;D31886;DA333844;NG_016972;NM_001172435;NM_012233;XR_427077;XR_427078 AAH22977;AAI46810;BAA06684;BAH16620;CAH56411;EAX11637;EAX11638;EAX11639;EAX11640;EAX11641;NP_001165906;NP_036365;Q15042 Hs.306327 1653188;1674218;1772461;2122645;2127228;2153734;2180006;2186473 A008U03;D2S2871;G16390;RH25298;RH67847;SGC32369;SHGC-31260;WI-17012 DKFZp434A012;KIAA0066;P130;RAB3GAP;RAB3GAP130;WARBM1 OTTHUMP00000206878;OTTHUMP00000206879;RAB3 GTPase-activating protein 130 kDa subunit;rab3 GTPase-activating protein catalytic subunit;rab3-GAP p130 APPROVED protein-coding ENSG00000115839 HGNC:17063 16002 600118;602536 REVIEWED 1322661 RAB39A RAB39A, member RAS oncogene family INVOLVED IN phagosome acidification; phagosome-lysosome fusion; FOUND IN phagocytic vesicle; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); choline (ortholog) 11 11 11 q22.3 104953680 104988614 + 107799277 107834208 + 107928551 107963482 + 1580863;6480464 12477932;15489334;16923123;19833722;20379614;21139048;21832049;23000965;23246001;9119394 54734 Q14964 ABBA01039873;ABBA01039874;AK292969;AMYH02025540;AMYH02025541;AP001024;AP003307;BC028064;CH471065;NM_017516;X99962 AAH28064;ADZ15851;BAF85658;CAA68227;EAW67100;NP_059986;Q14964 Hs.354906 1732277;1798066 D11S1828;RAB39_2302 RAB39;rab-39 OTTHUMP00000232736;RAB39, member RAS oncogene family;rab-related GTP-binding protein;ras-related protein Rab-39A APPROVED protein-coding ENSG00000179331 HGNC:16521 11470 PROVISIONAL 1604372 RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009] 1 1 1 q41 193540819 193665052 - 220321610 220445843 - 220148268 220272501 - 6480464;7240710;8554872;8699517 10048485;12168954;12477932;14702039;15231747;15696165;16344560;16484223;16532399;16710414;17353931;18029348;18485483;18849981;19380743;20562859;20967465;21139048;21890473;21906983;21963094;22053931;22337587;22863883;22939629;22990118;23000965;23176487;23383273;23420520;24482476;24816145;24885147;24891604;25015289;8889549;9733780 25782 F8WDJ2;H7C4Y9;Q9H2M9 AB020646;ABBA01048081;AC103590;AF004828;AF255648;AK021928;AK027485;AK291234;AL117631;AL445435;AMYH02002730;AMYH02002731;BC036513;BC098383;BC131573;BC146760;BX483077;CH471100;DA379077;KF455155;N93244;NG_015837;NM_012414 AAC35881;AAG44636;AAI46761;BAA74862;BAB13939;BAF83923;BAG51330;CAB56022;EAW93304;NP_036546;Q9H2M9 Hs.654849;Hs.708165 1673664;1690728;1692796;1749665;1772995;1774140;1791596;1855262;2117510;2117512;2144537;2147775;2150627;2158057;2158569;2177179;5115059 A005E47;AL009641;AL034046;D1S3289;D1S3605;PMC116076P1;RH45736;RH69283;SHGC-111348;SHGC-23988;SHGC-24046;SHGC-31919;SHGC-53807;SHGC-76377;SHGC-76378;SHGC-76386;SHGC-76387 DKFZp434D245;FLJ14579;KIAA0839;RAB3-GAP150;RAB3GAP150;RP11-568G11.1;SPG69;WARBM2;p150 OTTHUMP00000035228;RGAP-iso;rab3 GTPase-activating protein 150 kDa subunit;rab3 GTPase-activating protein non-catalytic subunit;rab3-GAP p150;rab3-GAP regulatory subunit APPROVED protein-coding ENSG00000118873 HGNC:17168 11471 212720;609275;614225 REVIEWED 1312861 RAB34 RAB34, member RAS oncogene family This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. This gene overlaps and shares exon structure with the nine-amino acid residue-repeats (NARR) gene, which encodes a functionally distinct nucleolar protein from a different reading frame. [provided by RefSeq, Jan 2012] 17 17 17 q11.2 23900465 23904451 - 27041299 27045286 - 28714281 28718268 - 1580863;6480464 12446704;12475955;12477932;12684051;14668488;14702039;15489334;15761153;15996637;16138900;16303743;16344560;16473629;16712791;16923123;1752434;17881736;18005733;18239623;19056867;19279100;19531230;19641095;19717423;19961360;21139048;21586586;21783985;21890473;21963094;21987572;23000965;23453885;23871933;24056301 83871 A8MYQ9;B4DNC0;C9JBG0;C9JY26;E7ES60;H7C0Y7;J3QLC6;K7EIF2;K7EJW7;P0DI83;Q96PJ7;Q9BZG1;V9GY61 ABBA01015048;AC010761;AF322067;AF327350;AJ277106;AK027312;AK074689;AK297850;AK304633;AMYH02033227;BC016841;BC066904;BC091510;BG251677;BG749591;BI523728;BT006702;CB111417;CB127976;CB136913;CH471159;CQ783588;CX788239;DA070520;NM_001142624;NM_001142625;NM_001144942;NM_001144943;NM_001256276;NM_001256277;NM_001256278;NM_031934 AAH16841;AAH66904;AAH91510;AAK09397;AAL05587;AAP35348;ABM84682;ABM92207;BAB55034;BAC11141;BAG60182;BAG65412;CAC81760;CAF86756;EAW51127;EAW51128;EAW51129;EAW51130;NP_001136096;NP_001136097;NP_001138414;NP_001138415;NP_001243205;NP_001243206;NP_001243207;NP_114140;Q9BZG1 Hs.301853 2154738;2219594 RAB34_2750;SHGC-31989 RAB39;RAH OTTHUMP00000163525;OTTHUMP00000163526;OTTHUMP00000163527;OTTHUMP00000163528;OTTHUMP00000163529;OTTHUMP00000163530;OTTHUMP00000210641;OTTHUMP00000210642;OTTHUMP00000210643;OTTHUMP00000210644;OTTHUMP00000210646;nine amino-acid residue-repeats;ras-related protein Rab-34;ras-related protein Rab-39;ras-related protein Rah APPROVED protein-coding ENSG00000109113 HGNC:16519 06701 610917 REVIEWED 732895 RAB3C RAB3C, member RAS oncogene family RAB proteins, such as RAB3C, are small GTPases implicated in the regulation of vesicular trafficking between membrane compartments (Cheng et al., 2002 [PubMed 12296628]).[supplied by OMIM, Jun 2009] 5 5 5 q13 54817320 55087837 + 57877950 58155221 + 58582130 58859394 + 737633;1580863;6480464;8554872 12477932 12167638;12296628;12578829;14702039;15159548;15489334;18029348;19240061;19717423;20379614;21565611;22956769;23382691;23535729;8543030 115827 Q96E17 AB073648;AB074188;ABBA01015789;ABBA01015790;AC008852;AC016642;AC034250;AK055409;AK094685;AMYH02011351;AMYH02011352;AMYH02011353;AY026936;BC013033;CH471123;NM_138453;XM_005248418;XM_005248419;XM_006714527 AAH13033;AAK08968;EAW54978;EAW54979;NP_612462;Q96E17;XP_005248475;XP_005248476;XP_006714590 Hs.4290;Hs.482173 1340855;1650754;1671521;1682678;1756587;2139276 D5S2028;G16060;L28251;RH65369;RH79742;SHGC-143625 OTTHUMP00000122555;ras-related protein Rab-3C APPROVED protein-coding ENSG00000152932 HGNC:30269 06704 612829 PROVISIONAL 732155 RAB3IP RAB3A interacting protein ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN cilium assembly; positive regulation of Rab GTPase activity; protein localization to organelle; FOUND IN centrosome; cytosol; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; trichostatin A 12 12 12 q15 69796326 69880688 + 70132466 70216984 + 69738313 69823204 + 6480464 11743660;12007189;12221131;123217;12477932;14702039;15489334;16189514;16344560;16461635;17207965;17574030;19060904;23455924;24722188;24816145;7532276;8125298 117177 F8VNX9;F8VTR6;H0YD03;H0YHP4;H0YI02;H0YI66;J3KPG1;Q96QF0 ABBA01026534;ABBA01026535;ABBA01026536;AC025263;AI912718;AJ312896;AJ312897;AJ312898;AJ312899;AJ312900;AJ312901;AK026201;AK027566;AK027671;AK057844;AK123728;AK225441;AK314547;AMYH02026714;AMYH02026715;AMYH02026716;AMYH02026717;AMYH02026718;AY685922;BC014553;BC015548;BC059358;BX537658;CH471054;DA211792;DA874650;DB460944;DN912041;NM_001024647;NM_001278402;NM_022456;NM_175623;NM_175624;NM_175625;NR_103519;NR_103520;XM_006719226;XM_006719227;XM_006719228 AAH15548;AAH59358;AAT94123;ADQ33002;BAB15391;BAB55202;BAB55283;CAC59835;CAC59836;CAC59837;CAC59838;CAC59839;CAC59840;EAW97237;EAW97238;EAW97239;EAW97240;EAW97241;EAW97242;NP_001019818;NP_001265331;NP_071901;NP_783322;NP_783323;NP_783324;Q96QF0;XP_006719289;XP_006719290;XP_006719291 Hs.258209 1340029;1645610;1703192;1733536;1739705;1755103;2135933;2154320;2179513;5015961;5024543 D12S1494;D12S43;D12S880;D15S1477;D1S3690;SGC32465;SHGC-142035;SHGC-32951;SHGC-58202;STS-N40170;WI-16968 FLJ14660;FLJ22548;MGC71495;RABIN3 OTTHUMP00000180671;OTTHUMP00000180672;OTTHUMP00000180673;OTTHUMP00000180674;OTTHUMP00000233524;OTTHUMP00000241017;OTTHUMP00000241018;OTTHUMP00000241022;RAB3IP {ECO:0000312|EMBL:CAC59836.1};SSX2 interacting protein;SSX2-interacting protein;rab-3A-interacting protein;rab3A-interacting protein;rabin 3;rabin-3 APPROVED protein-coding ENSG00000127328 HGNC:16508 10565 608686 VALIDATED 1354221 RAB40A RAB40A, member RAS oncogene family This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010] X X X q22.1 103193700 103213438 - 102753053 102774417 - 103498118 103519489 - 1580863;6480464 11697911;11773082;12076535;12477932;12578829;14702039;15489334;15772651;16923123;20360680;21890473;22939624 142684 Q8WXH6 AB232637;ABBA01032892;ABBA01032893;AF132748;AF422143;AK056859;AL035444;AMYH02040169;BC074854;BC074855;BC113501;BC117232;CH471190;H24206;NG_017149;NM_080879;XM_005262083;Z69733 AAH74854;AAH74855;AAI13502;AAI17233;AAL60514;AAL75949;ADR82904;BAF02899;EAW54708;NP_543155;Q8WXH6;XP_005262140 Hs.706904 1796630;5492689 RAB40A_1663;UniSTS:482049 MGC142061;RAR2;RAR2A;Rar-2 OTTHUMP00000023745;OTTHUMP00000023746;SOCS box containing protein RAR2A;SOCS box-containing protein RAR2A;ras-related protein Rab-40A APPROVED protein-coding ENSG00000172476 HGNC:18283 06705 REVIEWED 2291808 RAB40AL RAB40A, member RAS oncogene family-like This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010] X X X q22.2 102631242 102632270 + 102192200 102193228 + 102937272 102938300 + 6480464;7240710;8554872;8699517 12076535;12145744;12477932;15489334;15772651;21890473;22581972 282808 P0C0E4 ABBA01020989;AMYH02040162;BC101169;BC101170;BC101171;BC101172;NG_017150;NM_001031834;Z95624 AAI01170;AAI01171;AAI01172;AAI01173;NP_001027004;P0C0E4 Hs.449517 5493101 UniSTS:484270 MGC119958;MGC119959;MGC119960;MGC119961;MRXSMP;RAR2;RLGP OTTHUMP00000023725;Ras like GTPase;SOCS box containing protein RAR2;ras-like GTPase;ras-related protein Rab-40A-like APPROVED protein-coding HGNC:25410 300405;300519 REVIEWED 1346189 RAB42P1 RAB42, member RAS oncogene family, pseudogene 1 14 14 14 q32.11 70405645 70406533 + 90358166 90359254 + 89891822 89892910 + 11181995 646996 ABBA01030511;AL137128;AMYH02029716;CH471061;NG_009574 EAW81413 RAB42;RAB42P APPROVED pseudo HGNC:19799 INFERRED 1604758 RAB42 RAB42, member RAS oncogene family ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); FOUND IN membrane (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; copper(2+) sulfate 1 1 1 p35.3 27314478 27316857 + 28918712 28921098 + 28592200 28594586 + 6480464 12477932;15489334;16710414 115273 Q8N4Z0 ABBA01035046;AK312176;AL513497;AMYH02000632;BC033175;CH471059;CX788289;NM_001193532;NM_152304 AAH33175;BAG35109;EAX07684;EAX07685;NP_001180461;NP_689517;Q8N4Z0 Hs.652321 5037552 D8S2279 MGC45806;RP4-669K10.6 OTTHUMP00000003787;RAB42, member RAS homolog family;putative Ras-related protein Rab-42 protein-coding HGNC:28702 14644 PROVISIONAL 1347777 RAB41 RAB41, member RAS oncogene family This gene encodes a small GTP-binding protein that belongs to the largest family within the Ras superfamily. These proteins function as regulators of membrane trafficking. They cycle between inactive GDP-bound and activated GTP-bound states, which is controlled by GTP hydrolysis-activating proteins (GAPs). This family member can be activated by the GAP protein RN-Tre, and it is localized to the Golgi complex. [provided by RefSeq, May 2010] X X X q13.1 69855356 69858186 + 69502022 69504852 + 70282172 70285002 + 6480464 11697911;12477932;15772651;16086013;23936529 347517 D6REW8;Q5JT25 ABBA01067554;AI126463;AL357752;AMYH02039656;BC117239;BC143888;CH471132;NG_021267;NM_001032726 AAI17240;EAX05347;NP_001027898;Q5JT25 Hs.276327 2147556;2220004 RAB41__5630;SHGC-30005 OTTHUMP00000037883;OTTHUMP00000217399;RAB41, member RAS homolog family;ras-related protein Rab-41 APPROVED protein-coding ENSG00000147127 HGNC:18293 REVIEWED 1604417 RAB43P1 RAB43 pseudogene 1 16 16 16 q11.2 31164966 31169078 - 46656787 46660906 - 46622875 46626994 - 10737800;12477932;15018353 440375 ABBA01013773;AC012186;AC092368;AMYH02031965;NG_005358 RAB41P;RAB43P APPROVED pseudo HGNC:33153 INFERRED 1354248 RAB3IL1 RAB3A interacting protein (rabin3)-like 1 This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012] 11 11 11 q12.2 58999997 59020222 - 61664706 61713747 - 61897234 61920271 - 6480464;8554872 11516400;12477932;16189514;19060904;19088252;21829377;22359512;23362303;24072714 5866 E9PK89;H0YD19;Q8TBN0 AA865861;ABBA01003208;AF084557;AMYH02024884;AP006260;BC022239;BC051820;BQ946081;CH471076;DR004757;NM_001271686;NM_013401;XM_005274140;XM_006718646;XM_006718647;XM_006718648;XM_006718649 AAF28399;AAH22239;AAH51820;ABM82110;ABM85292;EAW73979;EAW73980;EAW73981;NP_001258615;NP_037533;Q8TBN0;XP_005274197;XP_006718709;XP_006718710;XP_006718711;XP_006718712 Hs.13759 1645976;1697564;2109723;2162775 D11S4706;L18044;RAB3IL1_8580;RH102292 GRAB OTTHUMP00000236102;OTTHUMP00000236103;guanine nucleotide exchange factor for Rab-3A;guanine nucleotide exchange factor for Rab3A;rab-3A-interacting-like protein 1;rab3A-interacting-like protein 1;rabin3-like 1 protein-coding ENSG00000167994 HGNC:9780 10181 REVIEWED 1603859 RAB43 RAB43, member RAS oncogene family ENCODES a protein that exhibits GTPase activity; INVOLVED IN Golgi organization; GTP catabolic process; phagosome maturation; FOUND IN extracellular vesicular exosome; Golgi apparatus; phagocytic vesicle; INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 3 3 3 q21.3 127238654 127272202 - 128806412 128840993 - 129087569 129122150 - 6480464 12477932;15018353;15489334;16344560;17562788;17684057;18664496;19056867;21139048;21680502;21832049;21906983;23000965;23589291;23615442;24248336;8889548 339122 C9JFM7;Q86YS6 ABBA01020924;ABBA01020925;ABBA01020926;ABBA01020927;AC108673;AK128345;AK291014;AMYH02007629;AMYH02007630;AMYH02007631;AMYH02007632;AY166852;BC062319;BC073812;BX331971;CA450364;CH471052;D45418;DA008447;DA103180;DA317502;DA339537;DA757569;DB220260;NM_001204883;NM_001204884;NM_001204885;NM_001204886;NM_001204887;NM_001204888;NM_198490 AAH62319;AAO17291;BAF83703;EAW79283;NP_001191812;NP_001191813;NP_001191814;NP_001191815;NP_001191816;NP_001191817;NP_940892;Q86YS6 Hs.381132;Hs.512661;Hs.546542 1771861 SHGC-77331 ISY1;MGC90481;RAB11B;RAB41 OTTHUMP00000174305;OTTHUMP00000174306;OTTHUMP00000174307;OTTHUMP00000174308;OTTHUMP00000174309;OTTHUMP00000217104;ras-related protein Rab-41;ras-related protein Rab-43 protein-coding ENSG00000172780 HGNC:19983 17947 VALIDATED 1349011 RAB40C RAB40C, member RAS oncogene family ENCODES a protein that exhibits GDP binding (inferred); GTP binding (inferred); INVOLVED IN protein transport (inferred); protein ubiquitination (inferred); small GTPase mediated signal transduction (inferred); FOUND IN perinuclear region of cytoplasm (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 16 16 16 p13.3 840134 879407 + 639357 679273 + 589357 629273 + 1580863;6480464 11157797;11697911;12076535;12477932;15601820;15616553;16169070;18391950;18485483;20360680;21145461;21890473;22993228;23638186;8889548 57799 H3BME4;H3BMH4;H3BNV8;H3BPA5;H3BPB1;H3BTC6;H3BUX0;Q96S21 ABBA01030361;AE006464;AK000584;AMYH02031196;AMYH02031197;AMYH02031198;AY823398;BC001581;BC028696;BG696681;BG715678;BM545442;BM677091;BQ685517;BX442451;CH471112;CX783728;NM_001172663;NM_001172664;NM_001172665;NM_001172666;NM_021168;Z84479;Z84779;Z98881;Z98883 AAH28696;AAK61236;AAV83924;EAW85791;EAW85792;EAW85793;EAW85794;NP_001166134;NP_001166135;NP_001166136;NP_001166137;NP_066991;Q96S21 Hs.459630 1700864;1796634;1856827;2122978;5093330;5094737 A009L31;G32656;RAB40C_1470;RH104058;SHGC-60694;TTTA028 RARL;RASL8C OTTHUMP00000045523;RAR (RAS like GTPASE) like;RAR like;RAS-like GTPase;RAS-like, family 8, member C;SOCS box-containing protein RAR3;rar-like protein;ras-like protein family member 8C;ras-related protein Rab-40C protein-coding ENSG00000197562 HGNC:18285 10182 VALIDATED 735498 RAB3A RAB3A, member RAS oncogene family ENCODES a protein that exhibits GTPase activity; myosin V binding; INVOLVED IN GTP catabolic process; positive regulation of regulated secretory pathway; regulation of short-term neuronal synaptic plasticity (ortholog); PARTICIPATES IN insulin secretion pathway; FOUND IN vesicle; axon (ortholog); synaptic vesicle (ortholog); INTERACTS WITH atrazine; copper(2+) sulfate; hydralazine 19 19 19 p13.2 18209348 18216613 - 18307609 18314874 - 18196801 18204064 - 1580863;2311087;6480464 19295123 10025402;10511453;10574328;10859313;11134008;11343654;11377421;11516400;11563859;11773082;11809763;11846002;11865063;11884041;12051743;12176990;12244319;12477932;12535645;12578829;12590134;12750892;12937130;14734538;15005721;15057824;15159548;15207266;15217342;15489334;15854772;16099449;1648736;16584842;16722236;17625073;18029348;18559336;19546222;19923287;20029029;20360680;21163940;21349835;22753498;23344955;24561123;2501306;2687157;7532276;7991565;8071310;8226995;8294464;8432525;8636125;8706741;8889548;9013620;9194562;9341137 5864 M0R257;P20336;S4R3Q3 ABBA01051251;ABBA01051252;AC068499;AF157809;AF254795;AF498931;AK289559;AK293467;AMYH02035727;AMYH02035728;BC011782;BM717329;CH471106;DB497194;M28210;NM_002866 AAA60242;AAD46811;AAF67385;AAF67748;AAH11782;AAM21079;ACE86740;ACE87426;BAF82248;BAG56961;EAW84672;EAW84673;EAW84674;NP_002857;P20336 Hs.27744 1659004;1796626;1853032;2146064 RAB3A_1804;RH71434;STS-H95222;WI-22566 OTTHUMP00000174429;RAS-associated protein RAB3A;ras-related protein Rab-3A protein-coding ENSG00000105649 HGNC:9777 01535 179490 VALIDATED 1351964 RAB4A RAB4A, member RAS oncogene family This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] 1 1 1 q42-q43 202675200 202708836 + 229406809 229441641 + 229271062 229305894 + 1580863;2306268;2302395;2302397;2306494;6480464;6484113;6907045 17629673;18171431;18570632;8013658 10329441;10512627;10698684;10720461;10888662;11063739;11076863;1117200;11172003;11243854;11256614;11786538;11788822;123234;12477932;12535645;12559036;12832475;1425574;14617813;15280022;15292453;15326289;15489334;15489336;15689494;15907487;16034420;16169070;16381901;16389071;16413502;16926431;16935861;17562788;17786215;18227069;18432409;18550774;18688880;18755741;1902553;19126785;19201859;19302266;19369423;19460345;19570034;19590752;19717423;19797056;1999336;20209493;20534812;20634958;20943774;21501115;21669283;21988832;21988917;22773346;22825871;23000965;23019362;23792956;23824909;24250222;24376456;24404161;2501306;7782346;8112321;8125298;8356066;9013719;9524117 5867 P20338;Q53GC2 ABBA01009819;ABBA01009820;AF498934;AK223009;AK313807;AL117350;AL162595;AMYH02002865;AMYH02002866;AY585832;BC002438;BC004309;BI546021;BI828974;BX354553;CH471098;DA712952;HY142709;KC407675;M28211;NM_001271998;NM_004578;NR_073545 AAA60244;AAH02438;AAH04309;AAM21082;AAT91347;ABM83562;ABM86800;AGL61414;BAD96729;BAG36543;CAL37818;CAL38462;EAW69889;EAW69890;EAW69891;EAW69892;EAW69893;EAW69894;EAW69895;NP_001258927;NP_004569;P20338 Hs.296169 1674109;1767246;1778464;1796636;1849001;1850197;1850199;1856241;2106633;2134845 A003A03;A005L42;D1S2524;G20320;RAB4A_1449;RH45658;RH70076;SHGC-12949;SPHAR__5294;STS-X16660 HRES-1;HRES-1/RAB4;HRES1;RAB4 HTLV-1 related endogenous sequence;OTTHUMP00000035740;Oncogene RAB4;RAB4, member RAS oncogene family;ras-related protein Rab-4A 2299934;2299935 PRSTS333_H;PRSTS334_H protein-coding ENSG00000168118 HGNC:9781 01541 179511 REVIEWED 1313826 RAB40B RAB40B, member RAS oncogene family The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 77209247 77250771 - 80614943 80656598 - 82657067 82698722 - 1580863;6480464 11697911;12076535;12477932;14702039;15489334;18187417;19159283;20360680;21145461;21832049;21890473;21988832;23902685 10966 H0YFJ5;I3L178;J3KN64;Q12829 AB209711;ABBA01019694;ABBA01019695;ABBA01019696;AC024361;AK095782;AK124376;AL047483;AMYH02034166;AMYH02034167;AMYH02034168;BC018039;BC035814;CH471099;NM_006822;U05227;XM_005256334;XM_005256335;XM_006722271 AAA17031;AAH18039;BAD92948;EAW89815;NP_006813;Q12829;XP_005256391;XP_005256392;XP_006722334 Hs.484068 1668978;1796632;2118645;5022651;5037552 D11S2921;D17S1986;D8S2279;RAB40B_777;RH70536 FLJ42385;RAR;SEC4L GTP-binding protein homologous to Saccharomyces cerevisiae SEC4;SOCS box-containing protein RAR;ras-related protein Rab-40B APPROVED protein-coding HGNC:18284 11472 REVIEWED 6906970 RAB4B-EGLN2 RAB4B-EGLN2 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring RAB4B (RAB4B, member RAS oncogene family) and EGLN2 (egl nine homolog 2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 19 19 q 41284124 41314346 + 40778219 40808441 + 6480464;8554872 20418890;20967262;22080838;23026137 100529264 ABBA01040789;ABBA01040790;ABBA01040791;ABBA01040792;AC008537;AK291385;AMYH02036124;AMYH02036125;NR_037791 BAF84074 Hs.631539 1677218;2160477 RH93347;SHGC-64133 RERT-lncRNA APPROVED ncrna HGNC:44465 VALIDATED 1602152 RAB44 RAB44, member RAS oncogene family ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN protein transport (inferred); small GTPase mediated signal transduction (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH atrazine 6 6 6 p21.31-p21.2 38227044 38260526 + 36665628 36700960 + 36697851 36733183 + 14574404;14702039 401258 Q7Z6P3 ABBA01038266;ABBA01038267;AK125083;AMYH02013558;CH471081;DN831165;NM_001257357;Z85996 BAC86047;EAX03908;EAX03909;EAX03910;NP_001244286;Q7Z6P3 Hs.485258 FLJ43093;RASD3;RASL13;dJ431A14.3 RAS-like, family 13;RASD family, member 3;ras-related protein Rab-44 protein-coding ENSG00000255587 HGNC:21068 13470 VALIDATED 7241118 RAB5CP1 RAB5C, member RAS oncogene family pseudogene 1 10 10 10 69469158 69469744 - 76183191 76183777 - 74423433 74424019 - 100420734 ABBA01020284;AC022026;AMYH02023348;NG_025447;NG_030484 1763887 SHGC-147556 pseudo HGNC:45104 INFERRED 736582 RAB3B RAB3B, member RAS oncogene family ENCODES a protein that exhibits GDP binding; GTPase activity; myosin V binding; INVOLVED IN antigen processing and presentation; GTP catabolic process; positive regulation of dopamine uptake involved in synaptic transmission; FOUND IN cytoplasm; extracellular vesicular exosome; perinuclear region of cytoplasm; INTERACTS WITH 3,3',5-triiodo-L-thyronine; aflatoxin B1; all-trans-retinoic acid 1 1 1 p32-p31 50660966 50743913 - 52373628 52456436 - 51907956 51990764 - 1580863;6480464 11741295;11832247;12477932;12535645;12578829;12901864;14702039;15159548;15489334;15761153;16344560;16710414;17207965;19056867;19384079;19717423;1999336;20007772;20807725;21139048;21906983;22178446;22321395;23000965;2501306;8175882;8636125;8886977 5865 P20337 ABBA01074783;ABBA01074784;ABBA01074785;AF498932;AK002107;AK092167;AK291653;AL445685;AL589663;AMYH02001004;AMYH02001005;AMYH02001006;AMYH02001007;AU119030;BC005035;CH471059;M28214;NM_002867 AAA60243;AAH05035;AAM21080;ADQ32831;BAF84342;EAX06802;NP_002858;P20337 Hs.123072 1648252;1671466;1672149;1756385;1769375;5014051;5015619;5017433;5037552;5109281 D11S3114;D1S1425;D8S2278;D8S2279;RH36067;SHGC-143353;SHGC-36782;SHGC-74815;SHGC-74822;STS-T76997 OTTHUMP00000010299;brain antigen RAB3B;ras-related protein Rab-3B protein-coding ENSG00000169213 HGNC:9778 01540 179510 VALIDATED 7240969 RAB5CP2 RAB5C, member RAS oncogene family pseudogene 2 5 5 5 q14.3 86674281 86674890 + 90772228 90772837 + 91476411 91477020 + 133789 ABBA01062169;AC008923;AMYH02011787;NG_021889 pseudo HGNC:45106 INFERRED 1342715 RAB5A RAB5A, member RAS oncogene family ENCODES a protein that exhibits GDP binding; GTP binding; GTPase activity; INVOLVED IN early endosome to late endosome transport; endocytosis; GTP catabolic process; PARTICIPATES IN platelet-derived growth factor signaling pathway; amyotrophic lateral sclerosis disease pathway; autophagy pathway; FOUND IN cytoplasm; cytoplasmic side of early endosome membrane; cytosol; INTERACTS WITH (+)-catechin; all-trans-retinoic acid; arsenous acid 3 3 3 p24-p22 19929100 19967199 + 19988572 20026667 + 19947080 19985175 + 1580863;2302395;2306494;4892310;6480464;6484113;6907045 17629673;18171431;20548331 10329441;10491193;10512627;10720461;10722846;10818110;11062261;11076863;11099046;11493665;11536198;11682489;11703925;11718716;11733506;11788822;11792815;11884531;12034881;12147258;12359748;12432064;12433916;12477932;12612085;12668728;12761223;12832475;12972505;14600265;14613930;14617813;14644159;14665628;14669515;14978216;15014045;15016378;15023538;15078902;1516130;15207266;15328530;15377662;15378032;15388334;15489334;15489336;15782196;16034420;16141272;16354686;16381901;16554017;16622416;16754960;16890161;16902405;16923123;17081065;17173037;17301141;17301152;17353931;17403676;17473071;17524504;17562788;17581628;17611268;18005733;18498773;18725540;18755741;18781797;18957427;18974049;18982021;19032933;19118546;19126785;19322201;19372461;19398555;19460345;19620308;19656886;19723633;19759177;19819222;19830447;19913121;19923319;19966785;1999336;20376209;20395296;20412119;20457610;20472552;20558162;20628086;20847427;20926780;21104291;21139048;21203429;21423773;21500550;21640764;21655223;21669283;21835792;21849022;21890473;21895870;21963094;21987572;21987812;21988832;22178872;22341461;22505724;22547071;22558309;22768177;22833562;22939629;22942286;22952906;23000965;23048039;23086000;23182941;23291133;23434372;23454239;23536683;23606746;23687301;23733193;23813952;23815289;23824909;23940042;24466349;24576301;24872409;24980434;2501306;25049275;7991565;8294464;8521472;8831575;9045618;9524117;9697774;9730828 5868 C9J3X8;F8WCY6;F8WD79;P20339 ABBA01025093;ABBA01025094;AC097635;AF464088;AF498936;AK295992;AK309287;AK312618;AMYH02006363;BC001267;BC018288;BJ991078;CH471055;CR536492;DA972638;DC330362;M28215;NM_001292048;NM_004162 AAA60245;AAH01267;AAH18288;AAM21084;AAO15677;ABM82716;ABM85898;BAG35504;BAG58767;CAG38731;CAL37675;CAL37879;EAW64301;EAW64302;EAW64303;NP_001278977;NP_004153;P20339 Hs.475663 1680256;1735316;1739819;1796638;1849398 D3S2948E;D3S3483E;HSC13E052;RAB5A_779;RH91784 RAB5 OTTHUMP00000160334;OTTHUMP00000207855;RAS-associated protein RAB5A;ras-related protein Rab-5A protein-coding ENSG00000144566 HGNC:9783 01542 179512 VALIDATED 1315136 RAB5B RAB5B, member RAS oncogene family ENCODES a protein that exhibits GDP binding; GTP-dependent protein binding; GTPase activity; INVOLVED IN antigen processing and presentation; GTP catabolic process; plasma membrane to endosome transport; PARTICIPATES IN endocytosis pathway; Entamoeba histolyca infection pathway; Mycobacterium tuberculosis infection pathway; FOUND IN endosome; extracellular vesicular exosome; intracellular; INTERACTS WITH cytarabine; fluvastatin; N-methyl-4-phenylpyridinium 12 12 12 q13 56020546 56041174 + 56367697 56390467 + 55973913 55996683 + 6480464;6907045 10329441;10403367;10491193;11076863;11230166;11256614;11703925;11733506;12477932;12493736;12535645;12972505;15326289;1541686;15489334;15489336;16344560;16381901;16923123;17081065;17562788;17927960;18198356;18445495;19322201;19717423;19723633;20526340;21139048;21988832;22885925;22939629;22951725;23000965;24106282;24457600;7789520;8666383;9918381 5869 F8VPW9;F8VUA5;F8VVZ0;F8VWZ7;P61020 ABBA01008397;AC034102;AF267863;AF498937;AK292597;AK296517;AK307468;AMYH02026557;BC032740;BC040143;BC050558;BC056422;BC065298;BX537408;BX647808;CH471054;CR536482;CR541690;DA401343;DA811144;NM_001252036;NM_001252037;NM_002868;X54871;XM_005269051;XM_005269052;XM_006719540 AAG44732;AAH32740;AAH40143;AAH50558;AAH56422;AAH65298;AAM21085;BAF85286;BAG59149;CAA38653;CAD97650;CAG38721;CAG46491;CAL38406;EAW96862;EAW96863;EAW96864;NP_001238965;NP_001238966;NP_002859;P61020;XP_005269108;XP_005269109;XP_006719603 Hs.157659 1678199;1684524;1685930;1690332;1795550;5022651;5037552 CDK2_529;D11S2921;D8S2279;RH44840;RH70905;RH79166;RH98226 OTTHUMP00000241848;OTTHUMP00000241849;OTTHUMP00000241854;ras-related protein Rab-5B protein-coding ENSG00000111540 HGNC:9784 01544 179514 VALIDATED 733928 RAB4B RAB4B, member RAS oncogene family RAB proteins, such as RAB4B, are members of the RAS superfamily of small GTPases that are involved in vesicular trafficking (He et al., 2002 [PubMed 12450215]).[supplied by OMIM, Aug 2009] 19 19 19 q13.2 38084575 38103255 + 41283670 41302849 + 40778219 40796944 + 6480464;8554872 10329441;12450215;12477932;15489334;15498874;17207965;19590752;20877624;22080838;23000965;24006255;24816145 53916 M0R0X1;M0R1E0;P61018;Q6PIK3 ABBA01040789;ABBA01040790;ABBA01040791;AC008537;AF165522;AF217985;AF498935;AI083750;AK024845;AMYH02036124;AMYH02036125;BC033081;BC040374;BC046927;BG706803;CH471126;NM_016154 AAD45923;AAG17228;AAH33081;AAH46927;AAM21083;ACE87040;ACE87724;ADQ32114;EAW57000;EAW57001;EAW57004;EAW57005;EAW57006;NP_057238;P61018 Hs.631539;Hs.730737 5014740;5015619;5015961;5037552 D11S3114;D15S1477;D17S610;D8S2279 FLJ78649;MGC52123 ras-related GTP-binding protein 4b;ras-related protein Rab-4B;small GTP binding protein RAB4B APPROVED protein-coding ENSG00000167578 HGNC:9782 11473 612945 VALIDATED 7365813 RAB6C-AS1 RAB6C antisense RNA 1 2 2 2 q21.1 124035014 124048900 - 130724165 130738045 - 129966592 129980472 - 12477932;14702039;15252450 100131320 ABBA01040141;ABBA01040142;AC079776;AK123452;AMYH02004770;BC044241;DQ786271;NR_036537 Hs.535586 ncrna ENSG00000225449 HGNC:49278 VALIDATED 1346465 RAB7B RAB7B, member RAS oncogene family ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN late endosome to Golgi transport; positive regulation of interleukin-6 production; positive regulation of megakaryocyte differentiation; PARTICIPATES IN Entamoeba histolyca infection pathway; FOUND IN Golgi apparatus; late endosome; lysosome; INTERACTS WITH aflatoxin B1; MeIQx; trichostatin A 1 1 q32 179083656 179111173 - 205976740 206003466 - 1580863;6907045;6480464 12477932;12972561;14702039;15144907;15489334;16344560;18552835;19451649;20012524;20375062;20459747;20953574;21832049;21988832;22708738;23345514;24173214;8889548 338382 Q96AH8 ABBA01000533;ABBA01000534;ABBA01000535;AK122657;AK127140;AUXG01000006;AY094596;BC007382;BC017092;BI757251;BM671066;BX364514;CH471067;DA966224;NM_001164522;NM_177403;XM_006711288 AAH17092;AAM22519;EAW91589;EAW91590;EAW91591;NP_001157994;NP_796377;Q96AH8;XP_006711351 Hs.534612 1697846 RH102450 MGC16212;MGC9726;RAB7 Ras-related protein Rab-7;ras-related protein Rab-7b protein-coding ENSG00000276600 HGNC:30513 15202 VALIDATED 1354322 RAB6C RAB6C, member RAS oncogene family ENCODES a protein that exhibits GTPase activity; INVOLVED IN GTP catabolic process; regulation of centrosome duplication; response to drug; FOUND IN centrosome; INTERACTS WITH 5-aza-2'-deoxycytidine; cobalt dichloride; doxorubicin 2 2 2 q21.1 124048094 124051159 + 130737235 130740311 + 129979662 129982738 + 1580863;6480464 10455022;11054569;11230166;12007787;12477932;14702039;15489334;16267028;17426708;18187620;18992151;19851296;20064528;20198315;20360680;21890473;22939629;22949199;24024966;9847074 84084 Q9H0N0 ABBA01040141;AC079776;AF124200;AF309646;AK055504;AL136727;AMYH02004770;BC120998;BC120999;CH471058;CH471103;CR533469;NM_032144 AAF28422;AAI21000;AAN39685;AAY15045;CAB66661;CAG38500;EAW95362;EAX11700;NP_115520;Q9H0N0 Hs.591552 1644201;1734740;2118048;5110615;5113756;5124061 A007D11;D2S1527E;RH15940;RH64887;RH71435;WI-21096 WTH3 OTTHUMP00000203985;rab6-like protein WTH3;ras-related protein Rab-6C protein-coding ENSG00000222014 HGNC:16525 15201 612909 VALIDATED 1354512 RAB8A RAB8A, member RAS oncogene family The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 16124417 16146398 + 16222490 16244445 + 16111680 16133635 + 2302393;2306295;2302395;2302397;2306494;6480464 17629673;17717074;18171431;18570632;18701652 10512627;11137014;11773082;12176990;12221131;123217;12477932;12578829;12590134;12639940;15207266;15489334;15837803;16169070;16473576;16541104;16902405;17050734;17081983;17332756;17353931;17507647;17574030;17597763;17646400;18714005;18724065;18772192;1886711;18976975;19056867;19304576;19322201;19641326;19864458;20085643;20161783;20237496;20308558;20360068;20424170;20631154;20634958;20937822;21139048;21596566;21906983;21963094;22159412;22178446;22219378;22433857;22445341;22790198;22854040;22939629;23000965;23014846;23125841;23140275;23175844;23246001;23303251;23357852;23435566;23606746;24072714;24250222;24255178;24332808;24515439;24583282;24816145;24892806;2564840;8294494;8375503;8408203;8643544;9226381;9677305;9918381 4218 P61006 AB209767;ABBA01051130;AC008894;AF498943;AK025165;AK293676;AMYH02035669;BC002977;BT007184;BU940750;CH471106;CR536583;CR542274;NM_005370;S53268;X56741 AAB19681;AAH02977;AAM21091;AAP35848;ABM83449;ABM86661;BAD93004;BAG57118;CAA40065;CAG38820;CAG47070;EAW84526;EAW84527;NP_005361;P61006 Hs.642874 1700032;2110691;2125414;2185812 RAB8A_8465;RH103628;RH78768;SHGC-36999 MEL;RAB8 mel transforming oncogene (RAB8 homolog);mel transforming oncogene (derived from cell line NK14);mel transforming oncogene (derived from cell line NK14)- RAB8 homolog;oncogene c-mel;ras-associated protein RAB8;ras-related protein Rab-8A APPROVED protein-coding HGNC:7007 01296 165040 VALIDATED 1351789 RAB7A RAB7A, member RAS oncogene family RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008] 3 3 3 q21.3 126877121 126965892 + 128444975 128533641 + 128726136 128814798 + 1580863;4892310;6480464;6484113;6907045;8554872;8699517 20548331 10329441;10491170;10679007;11141079;11179213;11448994;11591706;11675392;12034881;12054610;12071695;12477932;12545426;12576024;12643545;12850305;12944476;12972561;14617358;14644159;14668488;14702039;14998988;15078902;15099588;15186776;15340014;15455439;15489334;15592455;15681833;15809346;15933719;15996637;16176980;16282324;16344560;16396496;16631113;16925951;16965270;17081065;17353931;17540176;17625594;18029348;18039930;18272684;18501189;18552835;18781797;18955491;18974300;19056867;19322201;19372461;19392663;19451649;19460345;19564404;19580780;19620308;19651702;19738201;19956673;20012524;20028791;20301462;20301532;20363736;20459747;20472552;20709679;20720181;20847427;20974968;21139048;2115402;21438969;21669283;21800051;21890473;21906983;21963094;21987572;22053931;22072966;22115783;22304920;22496312;22505724;22638108;22673115;22768177;22939629;23000965;23179371;23188822;23383273;23536683;23562278;23733193;23824909;23874603;24173214;24332808;24457600;24498653;24583282;24619419;24654937;24816145;8125298;8702787;8910576;8954989;9126495;9428630;9563513;9585432;9792283;9918381 7879 C9IZZ0;C9J4S4;C9J4V0;C9J592;C9J7D1;C9J8S3;P51149 ABBA01020911;ABBA01020912;ABBA01020913;AC023598;AC079945;AC117508;AC139617;AF050175;AF119891;AF498942;AK026136;AK094449;AK225177;AK225691;AK290721;AK298344;AK308934;AL162009;AMYH02007627;AMYH02007628;AU122058;BC008721;BC013728;BX537775;CA748697;CH471052;CQ766813;NG_008070;NM_004637;U44104 AAA86640;AAD02565;AAF69645;AAH08721;AAH13728;AAM21090;BAF83410;BAG60591;CAD97836;CAF33077;EAW79302;NP_004628;P51149 Hs.744853 1648794;1735200;1778349;1796640;1855350;2118625;2123994;5491989 D3S2861E;D3S3116;D3S3901;RAB7A;RAB7_1563;RH47167;SHGC-77328;STS-H69522 FLJ20819;PRO2706;RAB7 OTTHUMP00000216577;OTTHUMP00000216578;OTTHUMP00000216579;OTTHUMP00000216583;RAB7, member RAS oncogene family;Ras-associated protein RAB7;ras-related protein Rab-7a APPROVED protein-coding ENSG00000075785 HGNC:9788 03805 602298 REVIEWED 1350755 RAB8B RAB8B, member RAS oncogene family RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010] 15 15 15 q22.2 40361335 40438724 + 63481728 63559975 + 63189529 63267776 + 737633;1580863;2302397;6480464 12477932;18570632 10889189;12221131;12639940;14702039;15489334;17207965;17474147;17646400;18346465;18772196;19056867;19717423;20877624;21139048;21832049;21890473;22178446;23000965;23246001;24816145;25015289;8799816;9030196 51762 H0YL94;H0YLJ8;H0YMN7;H0YNE9;Q92930 AB038995;ABBA01038914;ABBA01038915;ABBA01038916;ABBA01038917;AC016207;AK001111;AK095444;AK297598;AL133607;AL833365;AMYH02030581;AMYH02030582;BC020654;BG721755;CH471082;NM_016530;U66624;XM_006720569 AAC51199;AAH20654;ADQ32276;BAA92249;BAG50856;BAG53055;BAG59983;CAI46143;EAW77641;EAW77642;NP_057614;Q92930;XP_006720632 Hs.389733 1657516;1668224;1690001;2219596 G09506;RAB8B__5633;RH66341;RH99155 FLJ38125 OTTHUMP00000163760;RAB-8b protein;ras-related protein Rab-8B APPROVED protein-coding ENSG00000166128 HGNC:30273 11476 613532 VALIDATED 3207435 RAB9AP1 RAB9A, member RAS oncogene family pseudogene 1 Y Y q11.223 25897335 25897901 + 23751188 23751754 + 100287200 ABBA01008100;AC016752;NG_004755 pseudo HGNC:38104 VALIDATED 3129513 RAB9AP2 RAB9A, member RAS oncogene family pseudogene 2 Y Y q11.23 27856058 27859704 - 25709911 25713557 - 100287542 AC010682;NG_004755 APPROVED pseudo HGNC:38106 VALIDATED 1316083 RAB5C RAB5C, member RAS oncogene family Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010] 17 17 17 q21.2 36932032 36962339 - 40276994 40307062 - 42124976 42155044 - 1580863;6480464;6907045;8554872 10329441;10768959;11733506;12477932;12493736;12972505;14741744;15342556;16923123;17081065;17255364;17353931;17562788;17897319;18029348;19056867;19738201;20360068;21139048;21319273;21832049;21890473;21906983;21963094;21987572;22505724;22623428;22734003;22939629;23000965;23125841;24332808;24654937;24816145;7951316;8646882;9852039 5878 F8VSF8;F8VVK3;F8VWU4;K7ENY4;P51148 ABBA01006435;ABBA01006436;AC003104;AC099811;AC105024;AF141304;AF498938;AK310234;AL553867;AMYH02033427;BC106039;BC114439;BI963743;BM424166;BM550607;BP222378;BT019484;CH471152;CR541901;NM_001252039;NM_004583;NM_201434;U11293;U18420 AAA74081;AAB08927;AAF66594;AAI06040;AAI14440;AAM21086;AAV38291;ACE86766;ACE87452;CAG46699;EAW60805;EAW60806;EAW60807;EAW60808;NP_001238968;NP_004574;NP_958842;P51148 Hs.650382 1729841;1730147;1730948;1736908;1769514;1852153;2133356;2174945;2217890;5022578;7184671 D17S1564;D17S2018;D17S648;D17S821E;D17S856;D1S1423;D6S2066;G10717;RAB5C_3324;RH78944 L1880;MGC117217;MGC138857;RAB5CL;RAB5L;RABL OTTHUMP00000241915;OTTHUMP00000241916;RAB, member of RAS oncogene family-like;RAB5C, member of RAS oncogene family;ras-related protein Rab-5C APPROVED protein-coding ENSG00000108774 HGNC:9785 04947 604037 VALIDATED 3129499 RAB9AP3 RAB9A, member RAS oncogene family pseudogene 3 Y Y q11.23 28064476 28065042 - 25918329 25918895 - 100287577 AC007965;NG_004755 APPROVED pseudo HGNC:38107 VALIDATED 2923057 RAB9AP4 RAB9A, member RAS oncogene family pseudogene 4 Y Y q11.222 20811532 20812654 + 18649646 18650768 + 100288397 AC022486;NG_004636 APPROVED pseudo HGNC:38108 VALIDATED 3207433 RAB9AP5 RAB9A, member RAS oncogene family pseudogene 5 Y Y q11.223 26102716 26106362 + 23956569 23960215 + 100287234 AC073893;NG_004755 APPROVED pseudo HGNC:38109 VALIDATED 1343252 RAB9BP1 RAB9B, member RAS oncogene family pseudogene 1 INTERACTS WITH (+)-catechin 5 5 5 q21.2 100378574 100379198 + 104435175 104435799 + 105099474 105100098 + 23648065;24165912;9126495 9366 ABBA01069133;AC091987;AMYH02011906;NR_000039;U44105 Hs.158296 1796642;2136241 RAB9A_1416;RH18066 RAB9P1 APPROVED pseudo ENSG00000232159 HGNC:9793 VALIDATED 736141 RABAC1 Rab acceptor 1 (prenylated) ENCODES a protein that exhibits identical protein binding; FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; cyclosporin A 19 19 19 q13.2 39260462 39263157 - 42460833 42463530 - 41956681 41959376 - 1580863;6480464 10329441;10707984;10751420;11096102;11335720;11520070;11739697;12477932;14574414;14604818;15489334;15914857;16169070;16189514;16481131;16917502;16930546;17786215;17928295;19060904;19913121;19946888;20592422;20628086;20639865;21139048;21798244;21890473;21900206;21906983;21963094;21988832;22053931;22087225;23000965;23068607;23077317;23705972;24816145;9341137 10567 M0QXH1;M0QXU8;M0R1H9;M0R3D4;Q9UI14 ABBA01040825;AC010616;AF112202;AF112996;AI376198;AJ133534;AMYH02036138;BC008950;BT019964;CF242972;CH471126;CR457214;CR542116;DB454056;NM_006423 AAF17190;AAH08950;AAP97229;AAV38767;CAB43107;CAG33495;CAG46913;EAW57086;EAW57087;EAW57088;NP_006414;Q9UI14 Hs.11417 2142883;2156102;2156104;2191503 MARC_24204-24205:1032291902:1;RH78617;SHGC-64254;STS-N36775 PRA1;PRAF1;YIP3 PRA1 domain family 1;PRA1 family protein 1;prenylated Rab acceptor 1;prenylated Rab acceptor protein 1 protein-coding ENSG00000105404 HGNC:9794 05375 604925 VALIDATED 1350613 RAB9A RAB9A, member RAS oncogene family ENCODES a protein that exhibits GDP binding; GTP binding; GTPase activity; INVOLVED IN GTP catabolic process; positive regulation of exocytosis; PARTICIPATES IN measles infection pathway; FOUND IN extracellular vesicular exosome; late endosome; lysosome; INTERACTS WITH cyclosporin A; L-methionine; nickel dichloride X X X p22.2 17824420 17844845 + 13707240 13727944 + 13689121 13709825 + 1580863;6480464;6907045 10512627;11359012;11485202;11707390;11827983;12032303;12477932;12576506;15078902;15263003;15456905;15489334;15809346;16140752;16344560;16644737;16769818;17081983;18243103;18681838;19400954;19490898;19684018;19966785;20012524;20048159;20346379;20459747;21139048;21563830;21808068;21890473;21963094;22404213;22452336;22637480;22768177;22939629;23000965;23345514;24480419;7744738;8389620;9126495;9230071;9792283 9367 P51151 ABBA01071129;AC003037;AC079383;AF498944;AK290505;AMYH02038896;BC017265;CF528703;CH471074;CR450362;DA141710;NM_001195328;NM_004251;U44103 AAC51200;AAH17265;AAM21092;ABM83750;ABM87069;BAF83194;CAG29358;EAW98826;EAW98827;EAW98828;NP_001182257;NP_004242;P51151 Hs.495704 1791153;1796642;2142586 RAB9A_1416;STS-R66378;px-37e4 RAB9 OTTHUMP00000022936;RAB9, member RAS oncogene family;ras-related protein Rab-9A protein-coding ENSG00000123595 HGNC:9792 02236 300284 VALIDATED 5130581 RABEPKP1 Rab9 effector protein with kelch motifs pseudogene 1 13 13 13 52772405 52773412 + 71870357 71871364 + 71296225 71297232 + 100421226 ABBA01050324;AL162212;AMYH02028233;NG_024937 pseudo HGNC:39791 INFERRED 1604052 RABEPK Rab9 effector protein with kelch motifs INVOLVED IN receptor-mediated endocytosis (inferred); vesicle docking involved in exocytosis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular membrane-bounded organelle; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; cobalt dichloride 9 9 9 q33.3 98610755 98644425 + 127962821 127996438 + 125200542 125234159 + 6480464;8554872 12477932;14530284;15164053;15489334;16769818;18029348;18187620;20379614;21900206;21906983;21988832;24654937;9230071 10244 Q5T1S4;Q5T1S5;Q7Z6M1 ABBA01043776;ABBA01043777;AK290768;AL354710;AL445930;AL832249;AMYH02021645;BC000503;BC047023;BC053541;BC065725;CH471090;CR456837;CR541851;CX758286;NM_001174152;NM_001174153;NM_005833;XM_005251640;XM_005251641;XM_005251642;XM_005251643;XM_005251644;Z97074 AAH00503;AAH47023;AAH53541;AAH65725;ABM83178;ABM86379;BAF83457;CAB09808;CAG33118;CAG46649;CAH10393;EAW87614;EAW87615;EAW87616;EAW87617;EAW87618;EAW87619;NP_001167623;NP_001167624;NP_005824;Q7Z6M1;XP_005251697;XP_005251698;XP_005251699;XP_005251700;XP_005251701 Hs.19012 5014019;5118444 D11S3316;D5S2354 DKFZp686P1077;RAB9P40;bA65N13.1;p40 40 kDa Rab9 effector protein;OTTHUMP00000022126;Rab9 effector p40 protein-coding ENSG00000136933 HGNC:16896 09337 605962 VALIDATED 1344154 RABEP2 rabaptin, RAB GTPase binding effector protein 2 ENCODES a protein that exhibits growth factor activity (inferred); GTPase activator activity (inferred); INVOLVED IN endocytosis (inferred); positive regulation of GTPase activity (inferred); protein transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 17beta-estradiol; hydralazine; tert-butyl hydroperoxide 16 16 16 p11.2 27872792 27913272 - 28915742 28937339 - 28904421 28925211 - 737633;1580863;6480464;8554872 12477932 10720461;14702039;15489334;17205062;17254320;21890473;21906983;21963094;21988832;22505724;22863883;23000965;23128233;23314748;23563607;23940030;24816145;9524116 79874 B4DHR0;H3BMR7;H3BNR2;H3BNR8;H3BT64;H3BU67;Q9H5N1 ABBA01045683;ABBA01045684;AC109460;AK026935;AK092299;AK295229;AMYH02031817;BC027584;BC046118;BC058900;CH471267;NM_024816 AAH27584;AAH58900;BAB15594;BAG52526;BAG58222;EAW52007;NP_079092;Q9H5N1 Hs.555978 1681716;1742097;1777405;1792096;1858489 G10610;GDB:191081;PMC136845P2;RH65240;SHGC-57443 FLJ23282;FRA Rabaptin-5 beta;rab GTPase-binding effector protein 2;rabaptin-5beta protein-coding ENSG00000177548 HGNC:24817 17948 611869 VALIDATED 1353231 RAB9B RAB9B, member RAS oncogene family This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010] X X X q22.1-q22.3 103516271 103526228 - 103077255 103087212 - 103822325 103919275 - 1580863;6480464;6907045 11043518;12051767;12477932;15489334;15772651;16140752;16204133;16344560;19490898;20012524;20459747;21890473;23000965;24250222 51209 Q9NP90 AB036693;ABBA01032861;AC234782;AC253567;AK313425;AMYH02040173;BC041336;BC070069;BC093756;BC093758;CH471190;DA501604;FO393406;NG_016452;NM_016370;XM_006724658;XM_006724659 AAH93756;AAH93758;BAA89542;BAG36217;EAW54689;NP_057454;Q9NP90;XP_006724721;XP_006724722 Hs.522736 1677943;1798068;1857191;5493335 RAB9B_2548;RH99150;UniSTS:485774;WI-21742 RAB9L;Rab-9L OTTHUMP00000023763;RAB9-like protein;rab-9-like protein;ras-related protein Rab-9B APPROVED protein-coding ENSG00000123570 HGNC:14090 02237 300285 REVIEWED 1346664 RABEP1 rabaptin, RAB GTPase binding effector protein 1 ENCODES a protein that exhibits protein homodimerization activity; INVOLVED IN apoptotic process (inferred); endocytosis (inferred); membrane fusion (inferred); PARTICIPATES IN endocytosis pathway; FOUND IN endocytic vesicle; endosome; intracellular membrane-bounded organelle; INTERACTS WITH 2-methylcholine; atrazine; benzo[a]pyrene 17 17 17 p13.2 5202076 5305503 + 5185558 5289132 + 5282263 5385812 + 1580863;6480464;6907045 10458612;10608812;10698684;10720461;10747088;11129044;11387476;11452015;11718716;11788822;12042876;12477932;12505986;12858162;12938929;14617813;14636058;14973137;15143060;15324660;15328530;15378032;15457209;16344560;16407276;16473621;17341663;17353931;17506864;17979178;18029348;19500109;20682791;21078624;21139048;21271679;21890473;21988832;22558309;22841712;22863883;22939629;22975325;23314748;24250222;24255178;24390342;24816145;25036637;8521472;9045618;9323142;9524117;9742146 9135 B4DMM4;F5H355;I3L2B8;I3L456;K7ENJ9;Q15276 AA873800;ABBA01054803;ABBA01054804;ABBA01054805;ABBA01054806;ABBA01054807;ABBA01054808;ABBA01054809;ABBA01054810;ABBA01054811;ABBA01054812;AC004148;AC015727;AC087500;AF098638;AK297535;AK310932;AK314183;AL050211;AL120839;AL157499;AMYH02032852;AMYH02032853;AMYH02032854;AMYH02032855;AMYH02032856;AMYH02032857;AMYH02032858;BC018742;BC032435;BC041700;BC065242;BI666786;BM678290;BX103338;CH471108;DB124187;DB169027;EB387308;NM_001083585;NM_001291581;NM_001291582;NM_004703;X77723;X91141 AAC70781;AAH32435;AAH41700;BAG36864;BAG59936;CAA62580;EAW90343;EAW90344;EAW90345;NP_001077054;NP_001278510;NP_001278511;NP_004694;Q15276 Hs.584784;Hs.592121;Hs.732542 1645795;1654110;1662988;1667671;1685916;1694426;1720955;1733660;1734428;1734454;1771364;1855256;2129033;2143093;2156528;2158818;2162505 D15S629E;D17S1367E;D17S1401E;D17S1421E;D17S1662;G42908;G59307;RH15968;RH25190;RH67786;SGC34223;SHGC-35667;STS-AA019366;STS-H59437;STS-R01262;WI-12505;WI-18700 RAB5EP;RABPT5 neurocrescin;rab GTPase-binding effector protein 1;rabaptin-4;rabaptin-5;rabaptin-5alpha;renal carcinoma antigen NY-REN-17 protein-coding ENSG00000029725 HGNC:17677 04684 603616 VALIDATED 1316404 RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1 RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010] 7 7 7 q11.21 65839772 65910585 - 66147151 66276451 + 66682091 66811464 + 1302425;1580863;6480464;8554872 12505986 10720461;11098082;11452015;11718716;11788822;12477932;12853948;14702039;15143060;15146197;15231748;15324660;15339665;15489334;16189514;16344560;16407276;16499958;17341663;17353931;17450153;18160707;18781797;19759177;20379614;20434987;20655225;21139048;21223598;21356307;21500550;21890473;21906983;21963094;22053931;22428841;22505724;22846990;22863883;22952906;23000965;23048039;24255178;24654937;24716822;24722188;25015289;8125298;9323142 27342 A8K3R3;B3KMF1;C9JDA2;E9PFK9;Q9UJ41;V9GYI8 AA643570;ABBA01048964;ABBA01048965;ABBA01048966;ABBA01048967;ABBA01048968;ABBA01048969;ABBA01048970;ABBA01048971;ABBA01048972;ABBA01048973;ABBA01048974;ABBA01048975;ABBA01048976;ABBA01048977;AC027644;AC079588;AI017520;AI061350;AJ250042;AK001702;AK056864;AK223329;AK290678;AK303006;AMYH02015912;AMYH02015913;AW196783;BC015330;BF035201;BM310029;BT007107;CD366530;CH471140;CN305879;DA196847;DB445225;DC402344;DQ230533;DQ230534;DQ230535;HY010703;NM_001287060;NM_001287061;NM_001287062;NM_014504;NR_104676 AAH15330;AAP35771;AAQ93362;ABA64473;ABA64474;ABA64475;BAD97049;BAF83367;BAG50963;BAG64139;CAB57359;EAX07913;EAX07914;EAX07915;EAX07916;NP_001273989;NP_001273990;NP_001273991;NP_055319;Q9UJ41 Hs.530053;Hs.662268;Hs.733181 1648051;1655222;1680601;1691272;1697546;2151574 G29190;GDB:1318420;RH102281;RH36373;RH40777;RH75235 FLJ32302;RABEX5;RAP1;rabex-5 OTTHUMP00000159944;OTTHUMP00000210543;OTTHUMP00000210544;rab5 GDP/GTP exchange factor;rabaptin-5-associated exchange factor for Rab5 APPROVED protein-coding ENSG00000154710 HGNC:17676 609700 VALIDATED 736470 RABGGTB Rab geranylgeranyltransferase, beta subunit This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013] 1 1 1 p31 74491796 74500671 + 76251879 76260775 + 75786194 75795090 + 1580863;6480464 10491170;11141079;11447212;11591706;11675392;12071695;12477932;12535645;12620235;12620389;12802062;14702039;15489334;1598901;17081983;19471022;20379614;20403997;21139048;21693764;21906983;21963094;21990357;22505724;23000965;24035498;24250222;25027693;546546;7991565;8175798;8380507;8505342;8706741;8954794;9677305;9719562 5876 A8KAJ2;D3DQ78;P53611;Q5T4U8;Q6IB63 AB209023;ABBA01074416;AK127197;AK128861;AK293057;AL357314;AMYH02001282;BC020790;BC035873;BQ773824;CH471059;CR456941;NM_004582;NR_073562;U49245;X98001;Y08201 AAA91473;AAH20790;BAD92260;BAF85746;CAA66638;CAA69383;CAG33222;EAX06394;EAX06395;EAX06396;EAX06397;EAX06398;NP_004573;P53611 Hs.78948 1664206;1680132;1701664;2173236;2173238;5016596;5021396;5022578;5022651 A006C38;D11S2921;D1S1423;D1S2370;G20708;GDB:313783;GDB:631802;RH104502;RH64622 GGTB GGTase-II-beta;OTTHUMP00000011347;geranylgeranyl transferase type II subunit beta;geranylgeranyl transferase type-2 subunit beta;rab GG transferase beta;rab GGTase beta;rab geranyl-geranyltransferase subunit beta;rab geranylgeranyltransferase subunit beta;type II protein geranyl-geranyltransferase subunit beta protein-coding ENSG00000137955 HGNC:9796 01532 179080 REVIEWED 1347519 RABGAP1L RAB GTPase activating protein 1-like ENCODES a protein that exhibits Rab GTPase activator activity; Rab GTPase binding; INVOLVED IN positive regulation of Rab GTPase activity; regulation of protein localization; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN early endosome; Golgi apparatus; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 q24 147238027 148036995 + 174128552 174964445 + 174159414 174995308 + 6480464;8554872 10585558;11238933;11329013;12477932;14702039;15367492;16344560;16923123;19077034;19851296;20198315;20379614;20508983;20562859;22354992;23335107;23793025;9455484 9910 B7ZAP0;E9PNV2;E9PS63;F1LJ00;F5H8L0;Q5R372;Q9Y3L8 AA836500;AB007940;AB019490;AB019491;AB019492;AB019493;AB449904;ABBA01027873;ABBA01027874;ABBA01027875;ABBA01027876;ABBA01027877;ABBA01027878;ABBA01027879;ABBA01027880;ABBA01027881;ABBA01027882;ABBA01027883;ABBA01027884;ABBA01027885;ABBA01027886;AF279778;AK074409;AK095838;AK298711;AK316219;AK316355;AL008735;AL021069;AL022171;AL022400;AL031278;AL031286;AL035303;AL049701;AL049702;AL136377;AL157958;AL161671;AL591108;AMYH02002164;AMYH02002165;AMYH02002166;AMYH02002167;AMYH02002168;AMYH02002169;AMYH02002170;AMYH02002171;AMYH02002172;AMYH02002173;AMYH02002174;AMYH02002175;AMYH02002176;AMYH02002177;AY364260;BC012094;BC018630;BC041888;BC062541;BG193682;BQ277581;CH471067;CR627374;DB087378;DB232940;KF455084;KF455113;KF455120;KF510704;NM_001035230;NM_001243763;NM_001243764;NM_001243765;NM_014857;XM_005245680;XM_005245681;XM_006711692;XM_006711693;Z99127 AAH12094;AAH18630;AAH41888;AAQ76819;ADZ15658;B7ZAP0;BAA32316;BAA77331;BAA77332;BAA77333;BAA77334;BAC04635;BAG60867;BAH14590;BAH14726;BAH16647;CAA22908;CAB41265;CAB41266;CAB76100;CAH10472;EAW90977;EAW90978;EAW90979;NP_001030307;NP_001230692;NP_001230693;NP_001230694;NP_055672;Q5R372;XP_005245737;XP_005245738;XP_006711755;XP_006711756 Hs.585378;Hs.744937 1336060;1336087;1339074;1652450;1655523;1662338;1666227;1678413;1692588;1696200;1708398;1713571;1752927;1775841;1787914;1855240;2111996;2124487;2130669;2132123;2148036;2150052;2151215;2152783;2153738;2154960;2156768;2181891;2182909;2184558;5022578;5118191;7185103;7190155;7190159 AL009481;AL009530;AL010126;AL034062;D11S3081;D1S1423;D1S1589;D1S218;D1S2253;D1S242;D1S260E;D1S3661;G31018;G35691;RH120275;RH68654;RH69743;RH98196;SHGC-106813;SHGC-173653;SHGC-34990;SHGC-37135;SHGC-75883;SHGC-75884;SHGC-75929;SHGC-75933;SHGC-75935;SHGC-75950;SHGC-79045;SHGC-82888;STS-M62010;WI-10691 DKFZp686E1450;FLJ58037;FLJ79118;FLJ79254;HHL;RP1-102G20.1;TBC1D18 OTTHUMP00000032853;OTTHUMP00000032858;OTTHUMP00000235438;OTTHUMP00000235440;OTTHUMP00000235441;TBC1 domain family, member 18;expressed in hematopoietic cells, heart, liver (HLL);rab GTPase-activating protein 1-like protein-coding ENSG00000152061 HGNC:24663 16464 609238 VALIDATED 1353591 RABL2B RAB, member of RAS oncogene family-like 2B The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 22 22 22 q13.33 2135 2903 + 51205920 51222103 - 50767492 50783675 - 1580863;6480464 10444334;10591208;12477932;14702039;15461802;15489334;16189514;19322201;20138207;21890473 11158 A8MXF6;C9JFZ0;F2Z2T3;F2Z3A9;F2Z3J7;Q9UNT1 ABBA01006498;ABBA01042612;AC002055;AF095352;AI701071;AK094341;AK308268;AK313442;AMYH02038628;BC014879;BC020495;BC024281;BC040495;BC064551;BC075856;BG177165;BT020037;BX421088;BX432293;NM_001003789;NM_001130919;NM_001130920;NM_001130921;NM_001130922;NM_001130923;NM_007081;XM_005261899;XM_005261900;XM_005261901;XM_006724412 AAD51379;AAH14879;AAH24281;AAV38840;ABM83286;ABM86493;CAK54585;CAK54884;NP_001003789;NP_001124391;NP_001124392;NP_001124393;NP_001124394;NP_001124395;NP_009012;Q9UNT1;XP_005261956;XP_005261957;XP_005261958;XP_006724475 Hs.584862 1675489;1686090;1706104;5015404;5015619;5015861;5016478;5017266;5020274;5037552;7185938 D10S16;D11S3114;D8S2279;GDB:434012;L17705;L18441;L18506;RH70758;RH79812;SHGC-80090 FLJ93981;FLJ98216 OTTHUMP00000196480;OTTHUMP00000196482;OTTHUMP00000196485;OTTHUMP00000196486;OTTHUMP00000196487;rab-like protein 2B APPROVED protein-coding ENSG00000079974 HGNC:9800 10395 605413 REVIEWED 1320484 RAB6A RAB6A, member RAS oncogene family This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 11 q13.3 70692067 70777822 - 73386683 73472201 - 73675638 73761156 - 1580863;6480464 10202141;10209123;10329441;10996854;11054569;11071909;11076863;11121396;11230166;11718716;11929610;12051743;12391317;12401177;12447383;12477932;12738866;14702039;15128430;15229288;15483056;15489334;15489336;15747776;15878329;16189514;16332443;16381901;16395330;16473624;16536738;16683916;16902405;17562788;17573808;17681140;17699596;17716866;18044744;18187620;18243103;19141279;19322201;19632984;19703403;19717423;1999336;20360680;20562865;21035342;2112230;21139048;21411515;21543860;21596566;21890473;22124028;22335553;22607032;22750005;22956769;23091056;23251661;23569112;23737971;24006491;24250222;24332808;2501306;7782346;8125298;8175798;8294464;8356066;8619474;8889548;9110174;9438855 5870 F5GX61;F5H3K7;H0YGL6;H7BYW1;P20340;Q53ET8 ABBA01017505;ABBA01017506;ABBA01017507;ABBA01017508;ABBA01017509;ABBA01017510;AF052130;AF091030;AF119836;AF130122;AF130986;AF198616;AF498939;AF498941;AK057157;AK223551;AK289748;AK290132;AK299639;AK301534;AK309311;AMYH02025091;AMYH02025092;AMYH02025093;AMYH02025094;AMYH02025095;AP002770;AP002993;BC003617;BC034996;BC068486;BC096818;BI545554;BI552973;BQ422263;BT019698;BU685989;CB067721;CB989138;CH471076;CR541984;DQ437503;M28212;NG_029821;NM_001243718;NM_001243719;NM_002869;NM_198896 AAA60246;AAD25535;AAD27707;AAF00043;AAF23593;AAF73841;AAH03617;AAH68486;AAH96818;AAM21087;AAM21089;AAV38504;ABD93919;ACE87797;ACT64395;BAB71371;BAD97271;BAF82437;BAF82821;BAH13085;BAH13508;CAG46781;CAL37813;CAL38456;CAL38606;CAL38679;EAW74907;EAW74908;EAW74909;EAW74910;EAW74911;EAW74912;NP_001230647;NP_001230648;NP_002860;NP_942599;P20340 Hs.503222;Hs.591552 1644201;1722315;1734740;2118048;2128704;2136098;2148647;5110615;5113756;5122205;5124061 A007D11;D2S1527E;G60223;HSC1HH102;RH15940;RH64887;RH65877;RH71435;WI-17776;WI-21096;WIAF-2089 RAB6;RAB6A';RAB6B;rab-6 GTP-binding protein RAB6A';GTP-binding protein RAB6B;OTTHUMP00000165966;OTTHUMP00000165967;OTTHUMP00000237641;OTTHUMP00000237642;OTTHUMP00000237643;OTTHUMP00000237666;Oncogene RAB6;RAB6, member RAS oncogene family;Rab GTPase;Rab6A variant 3;ras-related protein Rab-6A APPROVED protein-coding ENSG00000175582 HGNC:9786 01543 179513 REVIEWED 1320580 RAB6B RAB6B, member RAS oncogene family ENCODES a protein that exhibits myosin V binding; INVOLVED IN protein transport (inferred); small GTPase mediated signal transduction (inferred); FOUND IN cytoplasmic vesicle (inferred); membrane (inferred); INTERACTS WITH atrazine; cadmium dichloride; hydrogen peroxide 3 3 3 q22.1 131968881 132040477 - 133543079 133614691 - 133824235 133895847 - 1580863;6480464 10893188;11929610;12477932;14702039;15489334;15761153;16344560;16751776;16790928;17474147;17707369;18044744;20360680;20379614;21139048;22178446;22610502;24250222;24332808;9030196 51560 C9J0I2;C9JB90;C9JU14;J3KR73;Q9NRW1 AB073348;ABBA01059163;AC080128;AF091031;AF166492;AF498940;AK055102;AK295451;AK312378;AMYH02007711;AMYH02007712;BC002510;BC036864;BC063556;BC078662;BT007263;CH471052;DA221889;DQ600152;NM_016577;U66623 AAC51198;AAF00044;AAF61637;AAH02510;AAH78662;AAM21088;AAP35927;ACE87057;BAG35296;BAH12073;EAW79158;EAW79159;NP_057661;Q9NRW1 Hs.715344 1671122;1707956;1764181;1768159;1854982;2176553;2183978;2217892 HSC25E012;RAB6B_2762;RH11770;SHGC-147819;SHGC-2364;SHGC-84639;T03553;WI-15336 OTTHUMP00000216369;OTTHUMP00000216372;ras-related protein Rab-6B;small GTP-binding protein;small GTPase RAB6B protein-coding ENSG00000154917 HGNC:14902 11474 615852 VALIDATED 1312283 RABGAP1 RAB GTPase activating protein 1 ENCODES a protein that exhibits GTPase activator activity; Rab GTPase binding; INVOLVED IN positive regulation of GTPase activity; regulation of GTP catabolic process; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; 8-bromo-3',5'-cyclic AMP 9 9 9 q34.11 96351607 96515424 + 125703288 125867147 + 122941009 123104868 + 737633;1580863;6480464;8554872 12477932 10202141;10893188;11071909;14702039;17043677;17124247;17562788;17646400;19077034;19322201;20379614;20562859;21139048;21988832;22190034;22354992;22863883;23248241;23383273;24816145 23637 B5MCD9;B7Z2B4;C9JGR5;Q9Y3P9 AA948302;AB449897;ABBA01043718;ABBA01043719;AC007066;AF088073;AF161357;AJ011679;AK022408;AK131449;AK294531;AL050195;AL358946;AL365338;AMYH02021596;AMYH02021597;AMYH02021598;AMYH02021599;AMYH02021600;BC020609;BC054492;BG622097;CH471090;NM_012197;XM_005251866;XM_005251868;XM_006717031;XM_006717032 AAF28917;AAH20609;AAH54492;BAD18594;BAH11800;BAH16640;CAB40267;CAB43313;EAW87554;EAW87555;EAW87556;EAW87557;NP_036329;Q9Y3P9;XP_005251923;XP_005251925;XP_006717094;XP_006717095 Hs.271341 1656595;1657209;1699514;1751101;1752791;1797618;2145798;2157526;2177058;2187204;5022322 D11S2560;GPR21_2093;RH103351;RH12674;RH65955;SHGC-104980;SHGC-106712;SHGC-1298;SHGC-13271;WI-11176;WI-13608 DKFZp586D2123;RP11-123N4.2;TBC1D11 GAP and centrosome-associated protein;GAPCENA;OTTHUMP00000022081;Rab6 GTPase activating protein, GAPCenA;TBC1 domain family, member 11;rab GTPase-activating protein 1;rab6 GTPase activating protein (GAP and centrosome-associated);rab6 GTPase-activating protein GAPCenA protein-coding ENSG00000011454 HGNC:17155 06575 615882 VALIDATED 1315050 RABL3 RAB, member of RAS oncogene family-like 3 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; formaldehyde 3 3 3 q13.33 118814920 118871134 - 120405528 120461384 - 120686681 120742537 - 737633;6480464;8554872 12477932 20596630;21139048;21832049;21890473;21906983;23251661;24816145 285282 C9JXM3;F8WAX9;F8WDC7;F8WF50;H7C533;Q5HYI8 ABBA01016492;AC117472;AC133474;AK025772;AK293085;AMYH02007520;BC020832;BX647559;BX647593;BX647664;CH471052;NM_173825;XM_006713595 AAH20832;BAF85774;CAI46059;CAI46064;CAI46095;EAW79520;EAW79521;NP_776186;Q5HYI8;XP_006713658 Hs.444360 1753111;1762263;2177939;5037552 D8S2279;SHGC-146121;SHGC-68332;SHGC-77253 MGC23920 OTTHUMP00000216148;OTTHUMP00000216151;rab-like protein 3 protein-coding ENSG00000144840 HGNC:18072 15203 VALIDATED 1344362 RABIF RAB interacting factor This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser extent in YPT1 and RAB3A, and may play a general role in vesicular transport. [provided by RefSeq, Oct 2011] 1 1 1 q32.1 175977320 175987480 - 202847410 202858385 - 202878282 202889257 - 1580863;6480464 10094488;12105226;12477932;12788069;15489334;16169070;16344560;16541104;19536175;21044950;21139048;22495352;24250222;7619808;7651540;8125298;9013620;9441742 5877 P47224;Q53EV1 ABBA01027495;AC098934;AK223538;AK311900;AMYH02002505;BC018488;BC037392;BQ898100;BT007133;CH471067;DA674111;NM_002871;S78873;U74324 AAB18264;AAB34955;AAH18488;AAH37392;AAP35797;BAD97258;BAG34841;EAW91443;NP_002862;P47224 Hs.90875 2167604;2171954 SHGC-76169;STS-AA011218 MSS4;RASGFR3;RASGRF3 OTTHUMP00000038814;Ras-specific guanine-releasing factor 3;guanine nucleotide exchange factor MSS4;mammalian suppressor of SEC4;rab-interacting factor APPROVED protein-coding HGNC:9797 04566 603417 REVIEWED 1346791 RAC1P1 ras-related C3 botulinum toxin substrate 1 pseudogene 1 18 18 18 q11.2 19080488 19081375 - 22265442 22266329 - 24685478 24686365 - 387612 ABBA01022608;AC022884;AMYH02034438;NG_005321 HsT2789 pseudo HGNC:31001 INFERRED 1315545 RABL2A RAB, member of RAS oncogene family-like 2A This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Two alternatively spliced transcript variants have been identified, both encoding the same protein. [provided by RefSeq, Jul 2008] 2 2 2 q13 2679 3493 - 114384814 114400975 + 113627237 113643398 + 1580863;6480464;8554872 10444334;12477932;14702039;15461802;15815621;19322201;20138207;21890473;22939629;24825419;8889548 11159 A0AUY0;B7ZBD4;B7ZBD5;E7EWW3;F2Z2E5;Q6IC14;Q9UBK7 ABBA01045991;ABBA01045992;AC245097;AF095350;AF095351;AK092971;AK289496;AL078621;AL137649;BC062578;BC111008;BC126129;BC144050;BC144052;BU728800;CR456554;NM_007082;NM_013412;XM_005263569;XM_005263570;XM_005263575;XM_005263576;XM_005263579;XM_005263582;XM_006712207;XM_006712208;XM_006712209;XM_006712210;XM_006712211;XM_006712212;XM_006712213;XM_006712214;XM_006712215;XM_006712216;XM_006712217;XM_006712218;XM_006712219;XM_006712220;XM_006712221;XM_006712222 AAD51377;AAD51378;AAI11009;AAI26130;AAI44051;AAI44053;BAF82185;CAG30440;NP_009013;NP_038198;Q9UBK7;XP_005263626;XP_005263627;XP_005263632;XP_005263633;XP_005263636;XP_005263639;XP_006712270;XP_006712271;XP_006712272;XP_006712273;XP_006712274;XP_006712275;XP_006712276;XP_006712277;XP_006712278;XP_006712279;XP_006712280;XP_006712281;XP_006712282;XP_006712283;XP_006712284;XP_006712285 Hs.446425 1675489;1686090;1706104;5015619;5016478;5037552 D11S3114;D8S2279;GDB:434012;RH70758;RH79812;SHGC-80090 FLJ78724;MGC117180 OTTHUMP00000045491;OTTHUMP00000045492;OTTHUMP00000045493;OTTHUMP00000203788;OTTHUMP00000203792;OTTHUMP00000203793;rab-like protein 2A APPROVED protein-coding ENSG00000144134 HGNC:9799 10394 605412 REVIEWED 1342726 RAC1P2 ras-related C3 botulinum toxin substrate 1 pseudogene 2 4 4 4 p13 47174482 47175442 - 46725687 46726624 - 46723670 46724607 - 15474301 442775 ABBA01014328;AC108931;AMYH02009154;NG_005326 Psi2Rac1 pseudo HGNC:31414 INFERRED 1352022 RAC1P3 ras-related C3 botulinum toxin substrate 1 pseudogene 3 13 13 13 q14.11 22919326 22920280 - 41861621 41862575 - 41287485 41288439 - 15474301 492295 ABBA01021273;AL354696;AMYH02027918;NG_004753 Psi3Rac1 pseudo HGNC:31833 INFERRED 1348059 RAC1P4 ras-related C3 botulinum toxin substrate 1 pseudogene 4 X X X q26.3 136889230 136890214 - 136523206 136524190 - 137441047 137442031 - 15474301 286472 ABBA01065822;ABBA01065823;AL022576;AMYH02040591;NG_004751 2219598 RAC4__5639 Psi4Rac1;RAC4 pseudo HGNC:31113 INFERRED 5133143 RAC1P6 ras-related C3 botulinum toxin substrate 1 pseudogene 6 7 7 114776630 114777216 - 115136576 115137162 - 100422657 ABBA01057824;AC068610;AMYH02016614;CH236947;NG_026506 1828606;1828992;1833268 ECD15430;ECD15623;ECD17777 pseudo HGNC:42006 INFERRED 1342592 RAC1P5 ras-related C3 botulinum toxin substrate 1 pseudogene 5 This locus encodes one of the pseudogenes of the functional ras-related C3 botulinum toxin substrate 1 gene (RAC1, GeneID:5879) located on chr 7. It is intronless, shares overall 93% sequence identity with the RAC1 gene, and has enough differences in the coding region so as not to be able to code for a functional protein. There is no evidence of transcription at this pseudogene locus on chr 4. [provided by RefSeq, Jul 2008] 4 4 4 q25 105422701 105424805 - 108123810 108125914 - 107202653 107204757 - 15474301;17903307 402183 ABBA01063748;AC104663;AF542527;AMYH02009870;NG_005324 2219598 RAC4__5639 Psi1Rac1 APPROVED pseudo HGNC:30593 REVIEWED 6480980 RAC1P7 ras-related C3 botulinum toxin substrate 1 pseudogene 7 1 1 234162619 234162973 - 234026873 234027227 - 100874390 ABBA01033086;AL672045;AMYH02002920;NG_032389 pseudo HGNC:42007 INFERRED 6480997 RAC1P8 ras-related C3 botulinum toxin substrate 1 pseudogene 8 13 13 62379283 62379809 + 61805150 61805676 + 100874398 ABBA01050238;AL353765;NG_032388 pseudo HGNC:42005 INFERRED 8662683 RAC1P9 ras-related C3 botulinum toxin substrate 1 pseudogene 9 7 7 7 53907945 53908459 + 53847442 53847956 + 53779749 53780263 + 100422658 ABBA01011836;AC074348;AMYH02015721;CH236957;NG_026567 pseudo HGNC:50774 INFERRED 1344542 RAC3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 76585490 76585771 + 79989532 79992080 + 82031656 82034204 + 6480464;6907045;8554872 10618392;10777539;10894930;11747336;11756406;11956649;12145209;12477932;15184363;15489334;15993075;16027728;16280046;16331275;16525025;16982419;17244648;18319303;19494130;20413580;21139048;21217774;21632823;21852230;21890473;21900206;21906983;21963094;22370642;22786680;22918955;22957814;23000965;23388133;24684802;24816145;2674130;8889548;9252344;9299243 5881 J3KSC4;J3QLK0;P60763 ABBA01019661;AC137723;AF008591;AF498966;AMYH02034147;BC009605;BC015197;BT019443;BU731383;NM_005052;XM_005256390 AAC51667;AAH09605;AAH15197;AAM21113;AAV38250;ABM84049;ABM87399;NP_005043;P60763;XP_005256447 Hs.45002 p21-Rac3;ras-related C3 botulinum toxin substrate 3;rho family, small GTP binding protein Rac3 APPROVED protein-coding ENSG00000169750 HGNC:9803 03629 602050 REVIEWED 1605021 RACGAP1P Rac GTPase activating protein 1 pseudogene INTERACTS WITH copper(2+) sulfate; folic acid; paracetamol 12 12 12 q12 44260076 44262869 - 45456401 45459194 - 45062618 45065411 - 6480464 12477932;21139048 83956 ABBA01031439;AC008127;AF334184;AMYH02026395;BC125190;BC125191;NR_026583 AAG50293 Hs.650500 2117989 STS-W72501 FKSG42 pseudo HGNC:24689 13325 VALIDATED 1316912 RABL6 RAB, member RAS oncogene family-like 6 This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 9 9 9 q34.3 110216142 110249429 + 139702374 139735639 + 136807922 136841187 + 737633;6480464 12477932 12646258;12970870;14702039;15164053;15489334;16189514;16344560;16582619;17081983;17962191;18029348;18816836;19433581;22863883;22939629;23572512;23977139;24250222;24816145;8889548 55684 B1AMX5;F2Z2T0;G3V154;H0Y4Z8;H0Y7H6;Q3YEC7 ABBA01022721;ABBA01022722;ABBA01022723;AF318367;AK000963;AK001184;AK023107;AK027586;AK094382;AK098086;AK128154;AK307431;AL355987;AL713707;AMYH02021911;AMYH02021912;BC002945;BC018960;BC021095;BC024964;BC035786;BQ184080;BQ437663;CH471090;CR989427;CX784448;DA805618;DQ099383;DQ141240;EF156752;EF156753;GQ169126;GQ169127;NG_031950;NM_001173988;NM_001173989;NM_024718 AAH02945;AAH21095;AAH35786;AAL55874;AAZ13759;AAZ73768;ABO84837;ABO84838;ACS45171;ACS45172;ADZ16036;BAA91446;BAA91541;BAB14408;BAB55213;BAG52862;BAG54639;CAD28504;EAW88282;EAW88283;EAW88284;EAW88285;EAW88286;NP_001167459;NP_001167460;NP_078994;Q3YEC7 Hs.370555 1679593;2159074;2183370;5014051;5037552 228;D8S2278;D8S2279;RH65048;RH78559 C9orf86;FLJ10101;FLJ13045;KIAA1984;Parf;RBEL1;RP11-216L13.9;bA216L13.9;pp8875 GTP-binding protein Parf;OTTHUMP00000022608;OTTHUMP00000022610;OTTHUMP00000022612;OTTHUMP00000022613;OTTHUMP00000022614;OTTHUMP00000022615;Rab-like GTP-binding protein 1;Rab-like GTP-binding protein 1C;Rab-like protein 1;partner of ARF;putative GTP-binding protein Parf;rab-like protein 6 APPROVED protein-coding ENSG00000196642 HGNC:24703 12984 610615 REVIEWED 1352798 RAD17P1 RAD17 homolog (S. pombe) pseudogene 1 7 7 7 p21 16883788 16886313 - 16903489 16905994 - 16863865 16866370 - 10480350 9207 ABBA01056636;AC098592;AJ131309;AMYH02015308;CH236948;NG_002929 HRAD17P1 pseudo HGNC:9808 INFERRED 1316839 RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013] 22 22 22 q13.1 21422402 21441189 - 37621301 37640339 - 37225261 37244299 - 1599398;1580863;6480655;6480464;6907045;7240710;8554872 10758162;21382035 10559471;10591208;10655614;10864872;10961859;11027608;11042152;11090627;11224519;11346801;11368848;11445862;11457725;11513578;11604131;12027902;12176041;12370311;12477932;12516569;12676940;12716910;12912997;12960248;1316893;14564009;14564011;14702039;14737186;15023524;15326354;15461802;15489334;15642721;15761153;15812594;16436505;16526095;16582540;1660188;16636067;16772332;17227822;17269730;17975262;17982024;18056264;18217210;18628988;18662984;18723130;18799653;1902092;1903399;19118104;19423521;19423540;19505917;19555660;19625648;19738201;20007712;20056178;20065081;20406964;20438785;20834067;21178276;21206905;21378159;21680873;21890473;21900206;21900546;21906983;21964561;21988832;22018470;22268729;22411871;22623428;23000965;23382236;23463506;23591873;23612905;23752268;23850828;23875749;24816145;25015289;2674130;8504089;9299243;9490022;9614111;9624165;9642115;9748241 5880 AAB22207;B1AH77;B1AH78;B1AH79;B1AH80;P15153;V9H0H7 ABBA01055461;ABBA01055462;AF077208;AF498965;AK096924;AMYH02038330;BC001485;BC018735;BC051899;BI908751;BQ934070;BT006919;CH471095;CR456555;M29871;NG_007288;NM_002872;XM_006724286;Z82188 AAA36538;AAB22207;AAD27003;AAH01485;AAM21112;AAP35565;ABM84214;ABM87619;ABW03912;CAG30441;CAK54586;CAK54885;EAW60149;EAW60150;EAW60151;EAW60152;EAW60153;NP_002863;P15153;XP_006724349 Hs.517601 1739667;2107543;2182804 D22S1122E;RAC2_3212.2;STS-AA033975 EN-7;Gx;HSPC022;p21-Rac2 OTTHUMP00000197775;OTTHUMP00000197777;OTTHUMP00000197778;OTTHUMP00000197779;Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2);ras-related C3 botulinum toxin substrate 2;rho family, small GTP binding protein Rac2;small G protein APPROVED protein-coding ENSG00000128340 HGNC:9802 03628 602049;608203 REVIEWED 1343366 RAD17P2 RAD17 homolog (S. pombe) pseudogene 2 13 13 13 q14.2 30673710 30676895 - 49617820 49621005 - 49043684 49046869 - 10480350;9660800 9206 ABBA01051014;AL161421;AMYH02028007;NG_002928 1653829;1660116;1660990;1681732;1690410;2127959;2130683;2168955;2171370;2176503;5092804 A006G05;D13S1171;G32341;RH44749;RH45056;RH45787;RH47134;RH69432;RH98674;WI-14349;WI-18286 FLJ31509;HRAD17P2;KIAA0970 pseudo HGNC:9809 INFERRED 1345525 RABGGTA Rab geranylgeranyltransferase, alpha subunit ENCODES a protein that exhibits Rab geranylgeranyltransferase activity (ortholog); Rab GTPase binding (ortholog); INVOLVED IN protein geranylgeranylation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN Rab-protein geranylgeranyltransferase complex (ortholog); INTERACTS WITH acetylsalicylic acid; all-trans-retinoic acid; arsenous acid 14 14 14 q11.2 4599360 4605419 - 24734744 24740833 - 24265538 24271627 - 1580863;6480464;8554872 12071695;12107412;12477932;12535645;12620235;15188402;15489334;16344560;2018975;20403997;21890473;21906983;21963094;22863883;22939629;24250222;24816145;7991565;8380507;8505342;8954794;9196026 5875 D3DS70;H0YKP6;H0YKZ8;H0YLG7;H0YLH3;H0YMG5;Q92696 ABBA01061340;AK291347;AK292613;AK303247;AK308715;AL096870;AL547259;AMYH02028880;AU125148;BC003093;CB995791;CD370056;CD672493;CH471078;CR541797;DA379718;DB116988;NM_004581;NM_182836;XM_005267959;XM_005267960;Y08200 AAH03093;BAF84036;BAF85302;BAG64331;CAA69382;CAG46596;EAW66041;EAW66042;EAW66043;EAW66044;EAW66045;EAW66046;NP_004572;NP_878256;Q92696;XP_005268016;XP_005268017 Hs.377992 1651999;2153981 D14S673E;RH41775 PTAR3 Rab GG transferase alpha;Rab GGTase alpha;geranylgeranyl transferase type II subunit alpha;geranylgeranyl transferase type-2 subunit alpha;protein prenyltransferase alpha subunit repeat containing 3;rab geranyl-geranyltransferase subunit alpha;rab geranylgeranyltransferase subunit alpha protein-coding ENSG00000100949 HGNC:9795 03547 601905 VALIDATED 8158617 RAD1P1 RAD1 pseudogene 1 10 10 10 q26.11 115111570 115112406 + 121380580 121381416 + 119621068 119621904 + 100128880 ABBA01062893;AC012468;AMYH02023910;NG_022192 APPROVED pseudo HGNC:49479 INFERRED 1315923 RAD18 RAD18 E3 ubiquitin protein ligase The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif. Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. [provided by RefSeq, Jul 2008] 3 3 3 p25-p24 8853629 8939882 - 8918880 9005159 - 8877196 8963475 - 1580863;6480464 10884424;10908344;12016221;12477932;12776193;12856420;14702039;15302935;15359278;15381075;15489334;15509568;15632077;16098139;16159877;16196087;16565220;16611994;16710452;16824193;16964243;17081983;17108083;17158148;17242200;17541157;17550899;17624554;17720710;17914568;18245774;18290323;18316726;18363965;18781797;18842586;18926833;19013543;19228710;19285159;19396164;19471022;19493487;19549727;19556710;19630985;19850743;20056641;20064529;20360068;20385554;20453000;20600238;20639865;20675655;20935496;20937699;20967207;21098111;21139048;21227930;21252943;21355096;21396873;21422291;21478670;21549715;21693764;21858012;21884979;21890473;21906983;21963094;21967848;21987572;21988832;22036607;22053931;22145991;22391204;22456510;22493164;22505724;22547805;22681887;22742833;22902628;22939629;22990118;23000965;23295675;23345618;23555860;23761444;23863879;23901102;24036990;24240236;24454762;24518219;24672041;24958773;25015289;25023518;8125298 56852 C9J0Q4;F8WAZ7;F8WE49;F8WFA6;H7C0A5;H7C3I2;Q9NS91 AB035274;ABBA01020415;AC008151;AC034186;AF169796;AK023075;AK222771;AMYH02006222;AMYH02006223;AY004333;AY961989;BC001302;CH471055;DW433240;NM_020165 AAF80856;AAF86618;AAH01302;AAX44049;ABM82123;ABM85306;BAA99284;BAB14392;BAD96491;EAW63948;EAW63949;NP_064550;Q9NS91 Hs.375684 1654603;1705048;1792902;1854617 PMC16647P1;RH12770;SHGC-76680;SHGC-78042 RNF73;hHR18;hRAD18 E3 ubiquitin-protein ligase RAD18;OTTHUMP00000115649;RAD18 homolog;RAD18, S. cerevisiae, homolog;RING finger protein 73;postreplication repair protein RAD18;postreplication repair protein hRAD18p APPROVED protein-coding ENSG00000070950 HGNC:18278 09242 605256 REVIEWED 1319895 RAD17 RAD17 homolog (S. pombe) The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013] 5 5 5 q13 65667788 65713573 + 68665124 68710628 + 69369297 69414801 + 1580863;6480464 10208430;10232579;10480350;10593953;10608806;10852904;10884395;11076863;11230166;11418864;11572977;11602352;11687627;11715513;11799063;11907025;12400013;12477932;12578958;12672690;12791985;14500819;14605214;14611806;14624239;14657349;14702039;14724280;14968112;15149599;15235112;15485898;15489334;15489336;15538388;1563350;16314342;16354571;16381901;16885023;16951182;17657792;18029348;18245774;18344987;18378394;18950845;19275579;19615732;20424596;21282530;23383325;23455924;23637229;23684611;23687379;24534091;24923443;24971543;9660800;9716408;9869296;9878245;9933569 5884 D6RA84;D6RAW6;D6RHU1;H0Y9J8;H0Y9T7;O75943 ABBA01048273;ABBA01048274;ABBA01048275;AC145132;AC145145;AC145146;AF017748;AF076838;AF085736;AF098533;AF098534;AF106065;AF112263;AF126424;AJ001642;AJ004977;AJ131296;AK292487;AL122068;AMYH02011474;AMYH02011475;AY612854;BC018110;BC032304;BX537441;CH471137;NM_001278622;NM_002873;NM_133338;NM_133339;NM_133340;NM_133341;NM_133342;NM_133343;NM_133344;XM_005276774 AAC36334;AAC95520;AAC97950;AAC97951;AAD01620;AAD17334;AAD38878;AAD42176;AAH32304;AAT09763;ABM82534;ABM85727;BAF85176;CAA04894;CAA06251;CAB46364;CAB59244;CAD97683;CAL37923;EAW51279;EAW51280;EAW51281;EAW51282;EAW51283;EAW51284;EAW51285;EAW51286;EAW51287;EAW51288;EAW51289;NP_001265551;NP_002864;NP_579916;NP_579917;NP_579918;NP_579919;NP_579920;NP_579921;NP_579922;O75943;XP_005276831 Hs.16184 1678697;1691348;1796644 G41776;RAD17_783;RH98911 CCYC;FLJ41520;HRAD17;R24L;RAD17SP;RAD24 OTTHUMP00000125188;OTTHUMP00000125189;OTTHUMP00000125190;OTTHUMP00000125191;OTTHUMP00000125192;OTTHUMP00000125193;OTTHUMP00000125194;OTTHUMP00000222130;OTTHUMP00000227668;RAD1 homolog;RF-C activator 1 homolog;RF-C/activator 1 homolog;Rad17-like protein;cell cycle checkpoint protein (RAD17);cell cycle checkpoint protein RAD17 APPROVED protein-coding ENSG00000152942 HGNC:9807 09124 603139 REVIEWED 1315145 RAD1 RAD1 checkpoint DNA exonuclease This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009] 5 5 5 p13.2 34787597 34798012 - 34905365 34915780 - 34905260 34915675 - 1580863;6480464 10359610;10777662;10846170;10852904;10884395;11340080;11418864;11572977;11573955;11799063;11907025;11944979;11994305;12228248;12477932;12578958;12791985;14500360;14611806;14702039;15122316;15314187;15489334;15556996;15871698;15897895;16169070;16216273;16731526;16814252;17395641;17493829;17583730;17855402;18029348;18162465;18950845;19074885;19464297;19523882;19535328;19615952;20188637;20545769;20677014;20847938;21139048;21963094;21978893;22586102;23329831;8361362;9660799;9705507;9716408;9828137;9828139;9872989;9878245 5810 D6R9A1;O60671 AB183821;AB183822;ABBA01039263;AC026801;AF011905;AF030933;AF058392;AF058393;AF073524;AF074717;AF076841;AF084512;AF084513;AF090170;AJ004974;AJ004975;AK002112;AMYH02011153;BC006837;BC009804;BC035771;BC037857;BT006908;CH471119;DQ451401;NM_002853;NR_026591 AAC14138;AAC27243;AAC35549;AAC35550;AAC95427;AAC95466;AAC95523;AAC95603;AAC98093;AAH06837;AAH09804;AAH37857;AAP35554;ABD96829;ABM82070;ABM85250;BAD86789;BAD86790;BAG51017;CAA06248;CAA06249;EAW55903;EAW55904;EAW55906;EAW55907;EAW55908;NP_002844;O60671 Hs.38114 1678185;1680425;1688917;1691350;1788132;1788134;1789989;1789991;1789993;2130104;5015959;5015961;5024756;5037552 D10S2448;D15S1477;D8S2279;G41777;G67270;G67271;RH41063;RH80030;RH92952;RH93983;STS-R91228;csnprad1-pcr1-1;csnprad1-pcr2-4;csnprad1-pcr3-3 HRAD1;REC1 DNA repair exonuclease REC1;DNA repair exonuclease rad1 homolog;OTTHUMP00000115990;OTTHUMP00000115992;RAD1 homolog;cell cycle checkpoint protein Hrad1;cell cycle checkpoint protein RAD1;checkpoint control protein HRAD1;exonuclease homolog RAD1;rad1-like DNA damage checkpoint protein APPROVED protein-coding ENSG00000113456 HGNC:9806 04400 603153 REVIEWED 1348792 RAD21L1 RAD21-like 1 (S. pombe) INVOLVED IN attachment of telomeric heterochromatin to nuclear envelope (inferred); chromosome segregation (inferred); double-strand break repair via homologous recombination (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN chromosome (ortholog); meiotic cohesin complex (ortholog); nucleus (ortholog) 20 20 20 p13 1303090 1331471 + 1206707 1235988 + 1226063 1255344 + 8554872 11780052;12477932;19010793;21527826;21890473;24483146 642636 Q9H4I0 ABBA01053767;ABBA01053768;AL031665;AMYH02036565;BC157891;BC171911;HQ603827;NM_001136566;XM_006723602;XM_006723603;XM_006723604;XM_006723605 AAI57892;AAI71911;AEF15806;NP_001130038;Q9H4I0;XP_006723665;XP_006723666;XP_006723667;XP_006723668 Hs.713451 MGC198626;RAD21L;dJ545L17.2 (S. pombe);OTTHUMP00000029969;OTTHUMP00000205129;double-strand-break repair protein rad21-like protein 1 protein-coding ENSG00000244588 HGNC:16271 VALIDATED 7771664 RAD1P2 RAD1 pseudogene 2 1 1 1 q23.1 132121186 132121849 - 159050925 159051588 - 159081135 159081798 - 100129690 ABBA01016620;AL035403;AL359753;AL451134;AMYH02002009;NG_022741 APPROVED pseudo HGNC:49480 INFERRED 3436499 RAD21-AS1 RAD21 antisense RNA 1 8 8 8 q24.11 114075352 114077796 + 117886663 117889107 + 116874424 116876868 + 12477932 644660 ABBA01037793;AC087350;AMYH02018659;BC031280;NG_032862;NR_033886 Hs.706174 C8orf81;NCRNA00255 APPROVED ncrna ENSG00000253327 HGNC:32158 VALIDATED 7174872 RAD23BP1 RAD23 homolog B (S. cerevisiae) pseudogene 1 3 3 3 p24.3 18518505 18519728 + 18580165 18581388 + 18538673 18539896 + 131185 ABBA01025113;AC105765;AMYH02006356;NG_022240 pseudo HGNC:44509 INFERRED 7174767 RAD23BP2 RAD23 homolog B (S. cerevisiae) pseudogene 2 7 7 7 q21.11 77994132 77995338 + 83292735 83293941 + 83663419 83664625 + 100130572 ABBA01045906;AC004954;AMYH02016177;CH236949;NG_022568 pseudo HGNC:44510 INFERRED 1351559 RAD23B RAD23 homolog B (S. cerevisiae) The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011] 9 9 9 q31.2 80547624 80596476 + 110045517 110094475 + 107283236 107332194 + 1580863;6480464;6907045;7246920 22572993 10214908;10373495;10488153;10583946;10734143;10854423;10873465;10915768;11259578;11279143;11562482;11827521;12215374;12477932;12505994;12815074;12832454;14585839;14645509;15064313;15164053;15358861;15489334;15550378;15840729;15849729;15866714;15885096;15914671;16105547;16196087;16253613;16335966;16344560;16399771;16424905;16492920;16537713;16712842;16713569;17081983;17154534;17323924;17558393;17662948;17728339;17932354;18029348;18574675;18676680;18708406;18709642;18781797;18830263;18854777;19074885;19116388;19124519;19170196;19182904;19193609;19237606;19270000;19322201;19435460;19444904;19446504;19536092;19538122;19615732;19625176;19692168;19740755;19843543;19878615;19941824;20059542;20150366;20174665;20360068;20453000;20496165;20522537;20575039;20639865;20706999;20966902;21139048;21263130;21693764;21890473;21900206;21906983;21962512;21963094;21987572;22004425;22053931;22079093;22505724;22537386;22575648;22863883;22915658;22939629;23000965;23023329;23314748;23503661;23649778;23703321;23776089;24250222;24258024;24654937;24811749;25015289;7851894;8125298;8168482;8692695;9164480;9371639;9372923;9372924;9734359 5887 B7Z4W4;H0Y579;P54727;Q5W0S4;Q5W0S5 ABBA01042793;ABBA01042794;AI285544;AI375313;AK125226;AK223479;AK293532;AK297986;AK316189;AL137852;AL540969;AMYH02021417;AU125295;AW402384;AY165178;AY313777;BC015805;BC020973;BE894394;BG678535;BI460482;BQ230600;BQ277025;BQ774932;CA866470;CH471105;D21090;DC404422;NM_001244713;NM_001244724;NM_002874 AAH20973;AAN47194;AAP81008;ABM84652;ABM92180;BAA04652;BAD97199;BAG54170;BAG57014;BAH12700;BAH14560;EAW59016;EAW59017;NP_001231642;NP_001231653;NP_002865;P54727 Hs.521640 1788136;1788138;1788140;1788142;1788144;1798072;2115887;2135489;2164760;2186894;5037552 A006X46;D8S2279;D9S2006;G67265;G67266;G67267;G67268;G67269;RAD23B_1857;SGC32118;STS-T93562 HHR23B;HR23B;P58 OTTHUMP00000021857;RAD23, yeast homolog of, B;UV excision repair protein RAD23 homolog B;XP-C repair complementing complex 58 kDa;XP-C repair complementing protein;XP-C repair-complementing complex 58 kDa protein APPROVED protein-coding ENSG00000119318 HGNC:9813 06772 600062 REVIEWED 1314228 RACGAP1 Rac GTPase activating protein 1 The protein encoded by this gene belongs to the GTPase-activating protein (GAP) family. GAPs bind activated forms of Rho GTPases and stimulate GTP hydrolysis. Through this catalytic function, GAPs negatively regulate Rho-mediated signals. This protein plays a regulatory role in initiation of cytokinesis, controlling cell growth and differentiation of hematopoietic cells, regulating spermatogenesis, and in neuronal proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011] 12 12 12 q13.12 49179065 49215304 - 50382945 50425586 - 49989162 50031749 - 1580863;6480464 10655059;10748082;10819331;10979956;11076863;11085985;11230166;11256614;11278894;11278976;11782313;11937491;11942621;12432077;12477932;12493759;12577067;12590651;12689593;14702039;14729465;14744859;15009096;15284113;15324660;15489334;15489336;15642749;15677464;15728185;15778465;15863513;15872091;16103226;16118207;16129829;16169070;16236794;16344560;16381901;16565220;16790497;16964243;17081983;17353931;17982282;18201571;18511905;18781797;19015243;19199708;19460752;19468302;19531213;19913121;20360068;20628086;21139048;21145461;21825042;21890473;21906983;21963094;21988832;22505724;22683270;22939629;22945935;23000965;23096218;23135572;23225332;23235882;23525949;23537643;23665020;23696789;25015289;8125298;9079650;9427749;9482736;9497316;9822598 29127 B2RE34;F8VQF5;F8VQZ5;F8VRD2;F8VRL2;F8VS54;F8VUW9;F8VV37;F8VV39;F8VV47;F8VVE5;F8VVY0;F8VWX0;F8VWY4;F8VXH1;F8VYH6;F8VZ41;F8VZ66;F8W0L1;F8W1E5;F8W1T4;H0YIK5;Q9H0H5 AB030251;AB040911;ABBA01031546;ABBA01031547;ABBA01031548;ABBA01031549;ABBA01031550;AC025154;AK000733;AK022726;AK225901;AK315785;AL136794;AMYH02026451;AMYH02026452;AMYH02026453;BC024144;BC032754;CH471111;CR533565;DA441098;DB076571;NM_001126103;NM_001126104;NM_013277;XM_005268811;XM_005268812;XM_005268813;XM_005268814;XM_005268815;XM_005268816;XM_006719359;XM_006719360 AAH24144;AAH32754;ABM85335;ABW03715;BAA90247;BAA91347;BAA96002;BAB14206;BAG38131;CAB66728;CAG38596;CAL38730;EAW58113;EAW58114;EAW58115;NP_001119575;NP_001119576;NP_037409;Q9H0H5;XP_005268868;XP_005268869;XP_005268870;XP_005268871;XP_005268872;XP_005268873;XP_006719422;XP_006719423 Hs.505469 2109727;2113026;2117989;2143380 D12S2183;RACGAP1_9584;STS-W72501;WI-17598 CYK4;HsCYK-4;ID-GAP GTPase activating protein;MgcRacGAP;OTTHUMP00000242159;OTTHUMP00000242160;OTTHUMP00000242161;OTTHUMP00000242162;OTTHUMP00000242163;male germ cell RacGap;protein CYK4 homolg;protein CYK4 homolog;rac GTPase-activating protein 1 APPROVED protein-coding ENSG00000161800 HGNC:9804 05402 604980 VALIDATED 1317642 RAD21 RAD21 homolog (S. pombe) The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008] 8 8 8 q24 114046862 114075794 - 117858173 117887105 - 116845934 116874866 - 1580863;6480464;6907045;8699517;7240710;8554872 10207075;10623634;10931856;11073952;11076961;11111111;11243849;11483345;11509732;11590136;11793857;11875078;12034751;12198550;12200439;12417729;12477932;12672959;12930902;14603436;14702039;15489334;15737063;15767545;15837422;15855230;16159877;16344560;16416296;16802858;17043677;17112726;17113138;17349791;17962804;18029348;18197499;18219272;18781797;18829510;18854154;19074885;19158269;19308699;19322193;19369356;19468298;19946888;20056645;20085707;20301283;20360068;20364118;20404533;20404544;20818333;21043528;21111234;21139048;21252943;21255398;21693764;21875947;21876002;21880767;21890473;21906983;21963094;21987589;22075476;22145905;22242598;22505724;22537934;22586326;22623531;22633399;22751501;22939629;23000965;23548868;23874961;24148822;24163370;24250222;24255178;24332808;24378232;24457600;24548858;24816145;25027693;7584044;8812457 5885 E5RFV8;E5RFZ5;E5RG18;E5RI01;E5RIN7;E5RJK5;E5RJW1;O60216 ABBA01037793;AC087350;AK097915;AK098521;AK125620;AK289505;AMYH02018659;AY675320;BC001229;BC050381;CH471060;D38551;DA328186;NG_032862;NM_006265;X98294 AAH50381;AAT70725;BAA07554;BAF82194;BAG53550;CAA66940;EAW91963;EAW91964;EAW91965;NP_006256;O60216 Hs.81848 1685039;1691180;1694430;1712252;1721281;2120215;2120504;2124153;2137952;2173650;5094374;5125577 Bda37g02;D3S3884;G29205;G42913;G54034;G54641;G59637;RH25306;RH65259;SHGC-37645;STS-Z78334;WI-14191 CDLS4;FLJ25655;FLJ40596;HR21;HRAD21;KIAA0078;MCD1;NXP-1;NXP1;SCC1;hHR21 OTTHUMP00000228038;SCC1 homolog;double-strand-break repair protein rad21 homolog;nuclear matrix protein 1;protein involved in DNA double-strand break repair;sister chromatid cohesion 1 APPROVED protein-coding ENSG00000164754 HGNC:9811 05924 606462;614701 REVIEWED 7244734 RAD51-AS1 RAD51 antisense RNA 1 (head to head) 15 15 15 q15.1 17753834 17755196 - 40985932 40987303 - 40693734 40695105 - 14702039 100505648 ABBA01038436;AC022405;AK000890;AK024377;AK125393;AMYH02030246;NR_040058 Hs.586876;Hs.598483 1793910;2170924;5015881;5015961;5016596;5022578;5022651;5037552;5119148 D11S2921;D15S1477;D1S1423;D2S1946E;D8S2279;GDB:335751;GDB:631802;PMC30636P1;RH65435 ncrna ENSG00000245849 HGNC:48621 VALIDATED 1353541 RAD51AP1 RAD51 associated protein 1 ENCODES a protein that exhibits double-stranded DNA binding; RNA binding; single-stranded DNA binding; INVOLVED IN cellular response to ionizing radiation; regulation of double-strand break repair via homologous recombination; FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 8'-apo-beta,psi-caroten-8'-al 12 12 12 p13.2-p13.1 6269995 6291258 + 4647940 4669213 + 4538774 4560047 + 1580863;6480464 12477932;14702039;14966907;15489334;16920159;17207965;17996710;17996711;18316552;19615732;19953087;20201926;20558539;20871616;21307306;21832049;21903585;22375013;22452920;23263487;24816145;8889548;9396801 10635 B4DUS5;F5H031;F5H1Y0;F5H4V6;F5H710;H0YFK6;H0YGT5;Q96B01 ABBA01048764;AC005832;AF006259;AK096930;AK290428;AK291948;AK300773;AK309706;AK316367;AL832243;AMYH02025927;BC005973;BC006992;BC016330;BU689445;CH471116;DC397655;NM_001130862;NM_006479;XM_006718952;XM_006718953;XM_006718954;XM_006718955 AAC39554;AAH06992;AAH16330;ADQ31726;ADZ15890;BAC04902;BAF83117;BAF84637;BAG62437;BAH14738;EAW88843;EAW88844;NP_001124334;NP_006470;Q96B01;XP_006719015;XP_006719016;XP_006719017;XP_006719018 Hs.730696 1687912;2108887 RAD51AP1_9157;RH93251 PIR51 OTTHUMP00000237992;OTTHUMP00000238160;OTTHUMP00000238544;OTTHUMP00000238545;RAD51-associated protein 1;RAD51-interacting protein protein-coding ENSG00000111247 HGNC:16956 603070 VALIDATED 8157927 RAD51AP1P1 RAD51 associated protein 1 pseudogene 1 3 3 3 135044212 135045212 - 136617918 136618918 - 136899076 136900076 - 100420047 ABBA01059107;AC011597;AMYH02007751;NG_025631 pseudo HGNC:49646 INFERRED 2311158 RAD51AP2 RAD51 associated protein 2 ASSOCIATED WITH Melanoma (inferred) 2 2 2 p24.2 17571800 17579522 - 17691851 17701847 - 17510584 17520580 - 8554872 16990250;22589738 729475 Q09MP3 ABBA01018508;AC104812;AK310498;AMYH02003340;DB514225;DQ860102;NM_001099218;XM_005262625 ABI64147;NP_001092688;Q09MP3;XP_005262682 Hs.515802;Hs.722353 OTTHUMP00000200481;RAD51-associated protein 2 protein-coding ENSG00000214842 HGNC:34417 PROVISIONAL 1345277 RAD23BLP RAD23 homolog B-like (S. cerevisiae) pseudogene 21 21 q11 17066619 17068730 - 15694300 15696411 - 10830953 54034 ABBA01057086;AL034449;AMYH02037529;NG_032020 APPROVED pseudo HGNC:9814 INFERRED 1605432 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 7 7 7 p22 6291529 6321004 - 6414126 6443598 + 6374495 6403967 + 2293891;2293876;2293879;6480464;6484113;6907045 17481747;8910292;9305638 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;22036506;22049212;22053931;22061968;22080864;22092654;22101459;22113496;22114142;22117219;22128169;22137120;22142809;22151306;22157753;22157762;22179719;22213037;22238325;22238672;22276187;22307908;22337875;22340048;22349509;22384062;22393046;22393062;22407364;22421922;22430205;22431917;22467858;22467863;22469974;22479308;22494620;22583359;22614015;22623428;22646320;22677168;22721673;22723286;22773836;22774404;22781349;22791907;22796473;22808202;22842228;22843693;22844345;22845716;22848487;22863953;22905193;22939629;22945935;22946057;23000965;23035050;23071154;23119100;23132927;23148218;23184663;23185021;23192342;23223568;23253699;23264468;23274900;23284172;23292607;23295182;23296296;23300597;23307871;23322732;23334332;23337888;23341328;23382236;23423567;23455924;23456597;23461363;23478800;23482591;23485997;23537630;23559092;23562274;23562278;23586025;23591873;23603360;23618859;23624644;23640485;23657011;23669401;23707487;23718289;23720743;23733346;23750283;23760915;23803609;23864022;23874639;23900529;23906792;23918979;23950142;23967341;23989259;24006489;24006490;24016866;24026656;24043306;24072884;24080160;24200678;24250222;24265291;24274578;24276241;24371145;24374334;24430179;24434436;24457600;24487980;24501217;24526684;24571616;24577405;24625804;24697698;24706725;24759106;24786604;24816145;24833563;24840251;24859002;24925969;25002679;25065758;2550440;2674130;7493928;7545969;7629060;7673236;7738010;7744004;7744773;7938008;7957046;8034624;8036496;8107774;8491184;8496137;8543060;8631991;8643625;8670801;8670882;8702968;8756646;8769096;8798539;8939933;8990187;8994833;9030878;9033596;9079650;9083043;9139723;9148763;9190911;9255350;9312003;9417078;9427749;9463375;9487125;9490022;9520479;9535855;9572733;9582072;9624165;9642115;9786927;9799233;9808620;9843499;9857026 5879 A4D2P0;A4D2P1;AAB22206;P63000 AB209410;AB451238;AB451363;ABBA01056484;ABBA01056485;AC009412;AF136373;AF498964;AJ132694;AJ132695;AK054993;AK122742;AK291806;AK291815;AL833528;AMYH02015172;AMYH02015173;AY279384;BC004247;BC050687;BC107748;BG437715;BQ689587;BT007121;CH236963;CH878731;CS026591;CS026817;D25274;DQ165078;M29870;M31467;NG_029431;NM_006908;NM_018890 AAA36537;AAA36544;AAB22206;AAD30547;AAH04247;AAH50687;AAI07749;AAM21111;AAP35785;AAQ16632;AAS07511;AAS07512;AAZ80485;ACE86720;ACE87049;ACE87406;ACE87731;BAD92647;BAF84495;BAF84504;BAG51447;BAG70052;BAG70177;CAA10732;CAA10733;CAB53579;CAI61762;CAI61874;EAL23718;EAL23719;EAL23720;EAW55039;EAW55040;EAW55041;EAW55042;EAW55043;EAW55044;NP_008839;NP_061485;P63000 Hs.413812 1651703;1735634;1798070;2116392;2152182;2219598;5014051;5015619;5016478;5016700;5021872;5022200;5022651;5024704;5037552;5109663;5117897;5119308 D11S2921;D11S3114;D7S2039E;D7S2067E;D7S2402;D8S2278;D8S2279;GDB:434012;GDB:451547;GDB:6028658;GDB:631813;L18426;RAC1_2171;RAC4__5639;RH65264;RH79802;SHGC-31947;sY3084 MGC111543;MIG5;Rac-1;TC-25;p21-Rac1 OTTHUMP00000151196;OTTHUMP00000151197;cell migration-inducing gene 5 protein;migration-inducing gene 5;ras-like protein TC25;ras-related C3 botulinum toxin substrate 1;rho family, small GTP binding protein Rac1 1643402 BMD2_H APPROVED protein-coding ENSG00000136238 HGNC:9801 03627 602048 REVIEWED 1350974 RAD51C RAD51 paralog C This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 17 17 17 q22 53231717 53273527 + 56769934 56811703 + 58692573 58734342 + 1580863;6480464;6907045;7240710;8554872;8699517;8662366 20690856 10749867;10888877;11034067;11034073;11331762;11410366;11459987;11744692;11751635;11751636;11842112;11842113;12036913;12118380;12427746;12477932;12966089;12975363;14704354;14716019;15065660;15115758;15170666;15292210;15489334;16215984;16395335;17114795;19064565;19124506;19237606;19451272;19714462;20301575;20400963;20400964;20496165;20522537;20697805;20723205;20952512;21139048;21409391;21616938;21750962;21832049;21906983;21963094;21965664;21980511;21990120;22167183;22370629;22379092;22451500;22476429;22725699;22752287;22797925;22843497;23108668;23117857;23176254;23512992;23666239;23666240;23704328;23810717;24315737;24631219;8889548;9469824 5889 E9PI66;H7C1R0;H7C2Q5;J3QKK3;J3QLB5;J3QLQ2;J3QR58;O43502;Q7KZJ0 AA304618;ABBA01041348;ABBA01041349;ABBA01041350;ABBA01041351;AC011195;AC025521;AF029669;AF029670;AI424321;AI914449;AK129738;AK290487;AK303363;AMYH02033693;AMYH02033694;AY623112;BC000667;BC064578;BC073161;BC093930;BC101485;BC107753;BC143259;BM987503;BT007339;CB243543;CH471109;NG_023199;NM_002876;NM_058216;NR_103872;NR_103873;XM_006722001;XM_006722002;XM_006722003;XM_006722004;XM_006722005;XM_006722006 AAC39604;AAC39605;AAH93930;AAI01486;AAI07754;AAP36003;AAT38108;BAF83176;BAG64422;EAW94430;EAW94431;EAW94432;EAW94433;EAW94434;NP_002867;NP_478123;O43502;XP_006722064;XP_006722065;XP_006722066;XP_006722067;XP_006722068;XP_006722069 Hs.412587 1675163;1691782;2217894 G42247;RAD51C_2685;WI-18519 BROVCA3;MGC104277;R51H3;RAD51L2 DNA repair protein RAD51 homolog 3;FANCO;OTTHUMP00000180604;OTTHUMP00000180606;OTTHUMP00000233439;RAD51 homolog C, isoform 1;RAD51-like protein 2;yeast RAD51 homolog 3 APPROVED protein-coding ENSG00000108384 HGNC:9820 04143 602774;613390;613399 REVIEWED 1344706 RAD51B RAD51 paralog B The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Jul 2011] 14 14 14 q23-q24.2 48345516 49121494 + 68286496 69149889 + 67819779 68683172 + 1580863;6480464;8662366;8554872 20690856 10565301;10938124;11744692;11751635;11751636;11842112;11842113;11978964;12118380;12427746;12441335;12477932;12508121;12649198;12975363;14595808;14704354;15065660;15115758;15489334;15701685;18270339;19329439;19330030;19657362;19714462;19850743;20095854;20195514;20237344;20379614;20496165;20522537;20610542;20881960;21368091;21399635;21533530;21852249;21965664;22017238;22139419;22232737;22454379;23001122;23108668;23251661;23455636;23535729;23535732;23810717;24022229;24139550;24236485;24390342;4595808;6261043;8889548;9207106;9441753;9512535;9788630;9878257;9892177 5890 C9J5S9;C9JYJ0;F8WAY6;G3V4W9;H0YJI5;O15315 ABBA01023691;ABBA01023692;ABBA01023693;ABBA01023694;ABBA01023695;ABBA01023696;ABBA01023697;ABBA01023698;ABBA01023699;ABBA01023700;ABBA01023701;ABBA01023702;ABBA01023703;ABBA01023704;ABBA01023705;AC004518;AK130466;AK309787;AK310686;AL121595;AL121820;AL122013;AL133370;AL136294;AL157915;AL589168;AL597484;AMYH02029405;AMYH02029406;AMYH02029407;AMYH02029408;AMYH02029409;AMYH02029410;AMYH02029411;AMYH02029412;AMYH02029413;AMYH02029414;AMYH02029415;AMYH02029416;AMYH02029417;AMYH02029418;AMYH02029419;AMYH02029420;AMYH02029421;AMYH02029422;BC030219;BM671299;BQ101024;BX161515;BX248061;BX248766;CB051081;CH471061;CK823089;CR536560;DQ160197;KC877523;KF455917;KF455919;KF455920;NG_023267;NM_002877;NM_133509;NM_133510;U84138;U92074;XM_005267961;XM_005267962;XM_005267963;Y15571 AAB63358;AAC32425;AAC32426;AAC39723;AAH30219;AAZ85144;ABM81852;ABM85007;CAA75680;CAD61950;CAD62357;CAD66573;CAG38797;EAW80957;EAW80958;EAW80959;NP_002868;NP_598193;NP_598194;O15315;XP_005268018;XP_005268019;XP_005268020 Hs.172587 1337453;1340155;1342200;1643768;1660497;1680559;1693718;1695488;1705732;1707174;1707382;1708578;1719573;1723275;1723963;1725063;1725075;1725139;1725141;1739739;1750193;1761617;1765887;1768023;1771474;1779125;1783000;1794176;1857376;2128462;2137968;2141115;2144460;2149619;2159007;2171824;2179368;2186087;5093572 A009S05;AF044687;D12S1520;D14S1065;D14S1069;D14S119;D14S1298;D14S726;D14S854;G32798;G35445;G35677;G36048;G36163;G36211;G36243;G36244;PMC310823P14;RH118827;RH118833;RH118872;RH118931;RH122327;RH123690;RH124061;RH44933;RH45281;RH75459;SHGC-106176;SHGC-112295;SHGC-145611;SHGC-149304;SHGC-58637;SHGC-68637;SHGC-79171;SHGC-83454;SHGC-84474;SHGC-85078;WI-11790 MGC34245;R51H2;RAD51L1;REC2;hREC2 DNA repair protein RAD51 homolog 2;OTTHUMP00000212251;OTTHUMP00000212253;OTTHUMP00000212254;OTTHUMP00000212255;RAD51 homolog B;RAD51-like protein 1;RecA-like protein;recombination repair protein APPROVED protein-coding ENSG00000182185 HGNC:9822 04255 602948 REVIEWED 733899 RAD50 RAD50 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010] 5 5 5 q31 128022732 128110444 + 131892616 131980313 + 132556924 132644621 + 1578504;1302871;68816;2293511;2300220;2300250;6480464;6907045;7240710;8554872;8699517;8661232;8662366 10908350;14511253;15199173;16288216;16474176;16498454;20690856;21533982 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10111 A5D6Y3;C9JNH8;E7EN38;E7ESD9;E9PM98;H7C0P8;H7C0V2;Q92878 ABBA01068804;ABBA01068805;AC004041;AC004042;AC116366;AF057299;AF057300;AK290597;AK307439;AMYH02012217;AMYH02012218;AMYH02012219;BC062603;BC073850;BC108282;BC136436;BC140005;CH471062;DB112912;DQ655928;KF457995;KF458010;NG_021151;NM_005732;U63139 AAB07119;AAD50325;AAD50326;AAH62603;AAH73850;AAI08283;AAI36437;AAI40006;BAF83286;EAW62328;EAW62329;EAW62330;NP_005723;Q92878 Hs.633509 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NBSLD;RAD50-2;RAD502;hRad50 DNA repair protein RAD50;OTTHUMP00000065927 APPROVED protein-coding HGNC:9816 04950 604040;613078 REVIEWED 1604371 RAD54B RAD54 homolog B (S. cerevisiae) The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008] 8 8 8 q22.1 91570193 91673298 - 95384188 95487343 - 94371960 94475115 - 6480464;6907045;7240710;8554872;8699517;8662366 20690856 10362364;10737800;10851248;11181995;11782437;11884632;12477932;15146197;15164066;15489334;16189514;16344560;16428451;16945962;17118963;17353931;17405295;17417655;17567985;17585536;18029348;18463164;18718930;19012493;19060904;19124506;19218431;19471022;19536092;19690177;20522537;20610542;20687897;21145461;21890473;21906983;23876972;24002644;24163370;24250222 25788 E5RHN9;E5RI14;E5RJF7;O95073;Q9Y620 ABBA01037452;ABBA01037453;ABBA01037454;AC023632;AF086020;AF112481;AK290437;AK307516;AL133578;AMYH02018426;AMYH02018427;AMYH02018428;AP003534;BC001965;BC020668;BC033710;BF766767;BP872374;CH471060;CN356732;DA553267;KC877274;NG_012878;NM_001205262;NM_001205263;NM_012415 AAD34331;AAH01965;AAH33710;BAF83126;CAB63724;EAW91712;EAW91713;EAW91714;NP_001192191;NP_001192192;NP_036547;Q9Y620 Hs.30561;Hs.744229 1697600;1735846;2107121;2109731 D8S1441E;FSBP__6757;RAD54B_2810;RH102311 FSBP;RDH54 DNA repair and recombination protein RAD54B;OTTHUMP00000165020;OTTHUMP00000165021;OTTHUMP00000226606;fibrinogen silencer binding protein;fibrinogen silencer-binding protein-like APPROVED protein-coding ENSG00000197275 HGNC:17228 05049;09966 114500;604289;605027 REVIEWED 1604389 RAD54L2 RAD54-like 2 (S. cerevisiae) ENCODES a protein that exhibits ATP binding (inferred); DNA binding (inferred); helicase activity (inferred); INVOLVED IN metabolic process (inferred); regulation of RNA biosynthetic process (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; atrazine 3 3 3 p21.2 51551741 51675402 + 51575596 51697634 + 51538910 51668660 + 6480464 10961928;12477932;14702039;16212558;16713569;19394292;19471022;19692572;20379614;21139048;21252943;21693764;21906983;21963094;21987572;22505724;24816145;9872452 23132 B3KV54;H0Y760;Q9Y4B4 AB018352;ABBA01024522;ABBA01024523;ABBA01024524;ABBA01024525;AC092037;AC099050;AC113933;AF088021;AF161443;AK023824;AK025049;AK026053;AK122683;AK304881;AK308456;AMYH02006786;AMYH02006787;AMYH02006788;AMYH02006789;AMYH02006790;AMYH02006791;BC001474;BC024298;NM_015106;XM_006713061;XM_006713062;XR_427260 AAF29003;AAH01474;AAH24298;ABM83116;ABM86312;BAA34529;BAG51226;BAG53666;BAG65618;NP_055921;Q9Y4B4;XP_006713124;XP_006713125 Hs.105399;Hs.659486 1725507;1728497;2108941 G63686;RH119150;SRISNF2L__5314.2 ARIP4;FLJ21396;FLJ22400;HSPC325;KIAA0809;SRISNF2L OTTHUMP00000202773;OTTHUMP00000210982;RAD54-like protein 2;androgen receptor-interacting protein 4;helicase ARIP4 protein-coding ENSG00000164080 HGNC:29123 10018 VALIDATED 1315846 RAD51D RAD51 paralog D The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011] 17 17 17 q11 30337000 30357081 - 33426811 33446888 - 35099792 35119869 - 1580863;6480464;8662366;8554872 20690856 10092526;10749867;10871607;11744692;11751635;11751636;11834724;11842112;11842113;12118380;12477932;12975363;14704354;14759258;15065660;15109494;15115758;15170666;15489334;16395335;16710300;16717288;17353931;18058226;19237606;19690177;20054644;20189471;20496165;20522537;20819778;21111057;21822267;21965664;22379092;22415235;22652533;22752287;22986143;23372765;24088786;24130102;9512535;9570954 5892 K7EJ58;K7EKG7;K7EMF1;K7EN92;K7ERM7;K7ESI1;K7ESL4;O75771;Q7Z790 AB013341;AB016223;AB016224;AB016225;AB018360;AB018361;AB018362;AB018363;AB020412;ABBA01011225;ABBA01011226;AC022916;AF034956;AK296241;AK301249;AK302450;AL117459;AMYH02033342;AMYH02033343;AY623116;BC002723;BC014422;BI916871;BX647297;CH471147;NG_031858;NM_001142571;NM_002878;NM_133629;NR_037711;NR_037712;Y15572 AAC39719;AAH02723;AAH14422;AAT38112;ABM83244;ABM86446;BAA25914;BAA31747;BAA31748;BAA31749;BAA33779;BAA33780;BAA33781;BAA33782;BAA34690;BAG58959;BAG62816;BAG63746;CAA75681;CAB55937;EAW80181;EAW80184;EAW80190;EAW80196;NP_001136043;NP_002869;NP_598332;O75771 Hs.631757 1684234;2110693 RAD51L3_3426;RH66172 BROVCA4;HsTRAD;R51H3;RAD51L3;Trad DNA repair protein RAD51 homolog 4;OTTHUMP00000163851;OTTHUMP00000163852;OTTHUMP00000163853;RAD51 homolog D;RAD51-like protein 3;recombination repair protein APPROVED protein-coding ENSG00000185379 HGNC:9823 04261 602954;614291 REVIEWED 1320493 RAD23A RAD23 homolog A (S. cerevisiae) The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012] 19 19 19 p13.2 12946385 12954184 + 13056628 13064457 + 12945814 12953643 + 1580863;6480464;6907045;8554872 10373495;10488153;10854423;10915768;11087358;11196199;11259200;11426943;11571271;11788722;11827521;12079361;12200120;12477932;12643283;12938929;12970176;14557549;14621999;14645509;14706819;15004330;15057824;15064742;15321727;15489334;15949443;16007098;16105547;16120388;16189514;16396636;16405905;16430867;16712842;16713569;16799550;16924240;17098253;17408689;17935801;18054791;18234089;18485873;18514189;18654987;18781797;18976975;19013454;19161404;19285159;19292762;19458171;19615732;19620964;19724136;19850743;19913121;20012529;20496165;20522537;20614012;20628086;20639865;20972266;21047872;21139048;21163940;21318276;21676658;21742020;21784850;21890473;21900206;21906983;21963094;21987572;22053931;22178446;22315970;22428841;22505724;22542781;22575648;22863883;22939629;22970133;23000965;23260144;23314748;23357418;23443559;23503661;23562397;23671107;23823328;24130170;24140708;24258024;24318982;24654937;24811749;24816145;25015289;7851894;8037842;8168482;8692695;8808275;9153201;9164480;9371639;9372924;9490418;9636371;9846873 5886 A8K1J3;B4DDJ7;K7ELU6;K7ELW1;K7ENJ0;K7EQ16;P54725 AB209713;ABBA01029763;AC092069;AD000092;AF549209;AI057203;AI081136;AK289908;AK293219;AMYH02035561;BC014026;BC088364;BI832600;BP213821;BX448989;CH471106;D21235;DB456593;M77024;NM_001270362;NM_001270363;NM_005053;NR_072976 AAB51177;AAH14026;AAH88364;AAN39383;ADZ15914;BAA04767;BAD92950;BAF82597;BAG56758;EAW84333;EAW84334;NP_001257291;NP_001257292;NP_005044;P54725 Hs.643267 1734624;2126378;2134870;2155290;2186475;2190757 D19S631E;RAD23A;RH41793;SHGC-31478;STS-D21235;STS-M84739 HHR23A;HR23A;MGC111083 RAD23, yeast homolog, A;UV excision repair protein RAD23 homolog A APPROVED protein-coding ENSG00000179262 HGNC:9812 07191 600061 REVIEWED 1312725 RAD52 RAD52 homolog (S. cerevisiae) The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014] 12 12 12 p13-p12.2 2627552 2665203 - 1021255 1099774 - 912089 990868 - 1580863;6480464;6907045 10212258;10438626;10673031;10744977;10921897;11081631;11456495;11571269;11691922;11809887;12023982;12036913;12077133;12139939;12191481;12370410;12372413;12376524;12379650;12477932;12659830;12750383;12883740;14690434;14734547;15205482;15205484;15571718;15670896;15766559;15958648;16018971;16367760;16638864;16956909;17040915;17118963;18086758;18203022;18270339;18313388;18449888;18593704;18676680;18990028;19064565;19064572;19074292;19092295;19124506;19170196;19237606;19338310;19506022;19530647;19536092;19625176;19661089;19692168;19714462;19789190;19799994;19996105;20081207;20150366;20190268;20453000;20496165;20522537;20610542;20644561;21148102;21804533;22001234;22860035;22899653;22964643;23188672;23209746;23339595;23836560;24006472;24047694;24131924;24204313;24319145;24340529;24729511;7526206;7774919;7797537;8702565;8812453;8921390 5893 E9PF95;F5GX32;F5GX95;F5H1K5;F5H3Q1;P43351;Q3MI84;Q5DR82 AA402047;ABBA01048834;ABBA01048835;AC004803;AF125948;AF125949;AF125950;AF187983;AK290047;AK292160;AK294709;AK299283;AK312026;AL558884;AMYH02025858;AY527412;AY540753;BC042136;BC104015;BC104016;BC104017;BC114507;BC114954;BC144458;CH471116;HG504385;HY045122;L33262;NG_017078;NM_001297419;NM_001297420;NM_001297421;NM_001297422;NM_134424;NR_123713;U12134;U27516;XM_005253720;XM_005253721;XM_005253725;XM_005253727;XM_006718995;XM_006718996;XM_006718997 AAA85793;AAA87554;AAB05203;AAD24575;AAD24576;AAD24577;AAF05531;AAF05532;AAF05533;AAF05534;AAI04016;AAI04018;AAI14955;AAI60123;AAS00097;AAT44403;BAF82736;BAF84849;BAG34963;BAH11854;BAH12992;EAW88942;EAW88943;EAW88944;EAW88945;EAW88946;EAW88947;EAW88948;EAW88949;EAW88950;NP_001284348;NP_001284349;NP_001284350;NP_001284351;NP_602296;P43351;XP_005253777;XP_005253778;XP_005253782;XP_005253784;XP_006719058;XP_006719059;XP_006719060 Hs.410355 1690015;1796650;1848423;1855744;2148518 G41790;RAD52_791;RH65139;SHGC-64053;WI-9332 RP11-359B12.2 DNA repair protein RAD52 homolog;OTTHUMP00000115419;OTTHUMP00000237799;OTTHUMP00000237801;recombination protein RAD52;rhabdomyosarcoma antigen MU-RMS-40.23 APPROVED protein-coding ENSG00000002016 HGNC:9824 11855 600392 REVIEWED 1321649 RAD9A RAD9 homolog A (S. pombe) This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair. This protein possesses 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 11 q13.1-q13.2 64492609 64499069 + 67159423 67165883 + 67391952 67398412 + 6480464 10359610;10620799;10713044;10777662;10846170;10852904;10884395;11077446;11278446;11340080;11395493;11551919;11572977;11573955;11799063;11907025;11944979;11971963;11994305;12049741;12228248;12400013;12477932;12578958;12628935;12709442;12734188;12766152;12791985;12941802;14500360;14611806;14966297;14988409;15146197;15314187;15326225;15489334;15556996;15558813;15773892;15871698;15897895;15983387;16216273;16365875;16479004;16712791;16731526;16814252;17081983;17395641;17493829;17511890;17575048;17583730;18029348;18156970;18162465;18215141;18316588;18616832;18794804;18842633;18936170;19330022;19411845;19464297;19523882;19535328;19536092;19615952;19913121;20081369;20188637;20305300;20424596;20457750;20545769;20628086;20940144;21139048;21858012;21900206;21978893;21991345;22034047;22586102;22925454;23028682;23066031;23329831;23383325;23433811;24376897;24403312;24971543;8943031;9872989 5883 F5H492;F5H4F1;F5H8A2;Q99638 AA708970;ABBA01024036;AK310213;AK315348;AMYH02024994;AP003419;AY766122;BC014848;CB164642;CH471076;CN402466;CR536508;NM_001243224;NM_004584;U53174;XM_006718652;XR_428922 AAB39928;AAH14848;AAU89725;BAG37745;CAG38746;EAW74604;EAW74605;EAW74606;NP_001230153;NP_004575;Q99638;XP_006718715 Hs.655354 1788578;1788580;1788582;1788584;1789995;2108381;5015619;5015961;5037552 D11S3114;D15S1477;D8S2279;G67560;G67561;G67562;G67563;PPP1CA_7858;csnprad9-pcr7-1 RAD9;hRAD9 DNA repair exonuclease rad9 homolog A;OTTHUMP00000236397;OTTHUMP00000236819;cell cycle checkpoint control protein RAD9A APPROVED protein-coding ENSG00000172613 HGNC:9827 04788 603761 REVIEWED 1321600 RAD54L RAD54-like (S. cerevisiae) The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008] 1 1 1 p32 45000746 45031525 + 46713367 46744145 + 46247695 46278473 + 1580863;1599748;2317365;6480464;6907045;7240710;8554872;8699517 10362365;16540687 10449612;10640146;11289143;11459989;11799067;12205100;12477932;12614485;15489334;15782160;15806108;15975611;16344560;16520463;16710414;16862129;17054727;17417655;17545145;17660833;18203022;18270339;18617519;18676680;19147782;19170196;19573080;19625176;19692168;19773279;20301425;20496165;20522537;20610542;20813000;21906983;24163370;8805304;8889548;9192813;9321665;9774452 8438 A8K996;Q92698;V9GYD3;V9GYX6 AA582917;ABBA01050841;ABBA01050842;AK292611;AK297204;AL121602;AMYH02000955;AMYH02000956;AY623117;BC121059;BC121060;BM464345;BM678712;CH471059;DB048280;DB449264;NG_012144;NM_001142548;NM_003579;X97795;XM_006710975 AAI21060;AAI21061;AAT38113;BAF85300;BAG59689;CAA66379;EAX06929;EAX06930;NP_001136020;NP_003570;Q92698;XP_006711038 Hs.642042 1682920;1848897;2109733;2117603;2124723;2153360;5491675 MARC_7379-7380:996687836:1;RAD54L_8807;RH47045;RH70932;RH70950;RH93140;SHGC-74777 HR54;RAD54A;hHR54;hRAD54 DNA repair and recombination protein RAD54-like;OTTHUMP00000009440;RAD54 homolog APPROVED protein-coding ENSG00000085999 HGNC:9826 04683 114480;603615;605027 REVIEWED 1604337 RADIL Ras association and DIL domains INVOLVED IN substrate adhesion-dependent cell spreading; ASSOCIATED WITH Melanoma (inferred); FOUND IN microtubule; INTERACTS WITH benzo[a]pyrene; 17alpha-ethynylestradiol (ortholog); all-trans-retinoic acid (ortholog) 7 7 7 p22.1 4798391 4882417 - 4838736 4923335 - 4799109 4883704 - 6480464;8554872 11230166;11347906;12477932;12853948;14702039;15146197;15324660;15489334;16051602;16169070;16189514;16344560;16713569;17353931;17704304;20048162;21706016;23097489;23209302;23251661;24163370;24255178 55698 B7Z2I1;C9J7G0;F8WEM1;Q96JH8 AB058752;ABBA01039430;ABBA01039431;ABBA01039432;AC092610;AK000997;AK001186;AK294745;AK296325;AK302549;AL136731;AMYH02015121;AMYH02015122;AMYH02015123;BC004919;BC117317;BC126311;BC143526;BG722917;BQ942667;CH236953;CH471144;CN365550;DA241653;EF560723;NM_018059 AAH04919;AAI17318;AAI26312;AAI43527;AAS07559;AAS07560;ABQ59033;BAA91459;BAA91543;BAB47478;BAH11867;BAH12316;BAH13739;CAB66665;EAL23966;EAW87300;EAW87301;EAW87302;EAW87303;NP_060529;Q96JH8 Hs.667336 1652983;1786342;2106567 GDB:1318549;PAPOLB_3611;SHGC-155747 FLJ10324;FLJ60975;KIAA1849;MGC161589;RASIP2 OTTHUMP00000200468;Rap GTPase interactor;ras-associating and dilute domain-containing protein protein-coding ENSG00000157927 HGNC:22226 07663 611491 VALIDATED 1322405 RAET1E retinoic acid early transcript 1E This gene belong to the RAET1 family, which consists of major histocompatibility complex (MHC) class I-related genes located in a cluster on chromosome 6q24.2-q25.3. This and RAET1G protein differ from other RAET1 proteins in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. This protein functions as a ligand for NKG2D receptor, which is expressed on the surface of several types of immune cells, and is involved in innate and adaptive immune responses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011] 6 6 6 q25.1 150944264 150946762 - 150204511 150217195 - 149883375 149896059 - 1580863;6480464 11827464;12477932;12732206;12975309;14508119;14574404;15026360;15240696;17470428;18544572;19436053;19688209;20054857;20219610;20237496 135250 E9PKJ6;Q3T1D4;Q8TD07 ABBA01025669;AF359243;AL355312;AMYH02014699;AY054974;AY069961;AY176317;AY252119;AY359075;BC101976;BC103694;CH471051;EF489426;KJ628092;NG_029833;NM_001243325;NM_001243327;NM_001243328;NM_139165 AAI01977;AAI03695;AAL11005;AAL58090;AAL76417;AAO22240;AAP15166;AAQ89434;ABR29881;AIC38369;EAW47781;EAW47782;EAW47783;NP_001230254;NP_001230256;NP_001230257;NP_631904;Q8TD07 Hs.511818 5037552 D8S2279 MGC125308;MGC125309;N2DL-4;NKG2DL4;RAET1E2;RL-4;ULBP4;bA350J20.7 LETAL;NKG2D ligand 4;OTTHUMP00000017403;OTTHUMP00000017404;OTTHUMP00000229731;RAE-1-like transcript 4;lymphocyte effector toxicity activation ligand APPROVED protein-coding ENSG00000164520 HGNC:16793 16466 609243 REVIEWED 7247961 RAET1E-AS1 RAET1E antisense RNA 1 6 6 150184634 150240644 + 149863498 149919508 + 12477932;20967262 100652739 ABBA01025669;AL355312;AL583835;AMYH02014699;AW241754;BC016788;DB521065;FY211027;HG499797;NR_045126;NR_045127 AAH16788 Hs.642734 RAET1G-AS1;RP11-244K5.1 ncrna ENSG00000223701;ENSG00000268592 HGNC:48994 VALIDATED 1345724 RAET1F retinoic acid early transcript 1F pseudogene 6 6 6 q24.1-q25.1 150965833 150966295 + 150231164 150231626 + 149910028 149910490 + 11827464 353089 ABBA01025669;AL583835;AMYH02014699;NG_005420 pseudo HGNC:16794 INFERRED 1316727 RAD51 RAD51 recombinase The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 15 15 15 q15.1 17755220 17792245 + 40987327 41024356 + 40695129 40732158 + 1580863;2292636;2292635;2292634;2298723;2292638;2298722;2292632;2292637;6480464;6907045;8554872;8699517;8662366 15924337;16624550;17180310;17219426;17301259;17942895;17999359;18429825;20690856 10082566;10212258;10390347;10438626;10446958;10493508;10551859;10562567;10619018;10807537;10851081;10851248;10959836;10998058;11002423;11005857;11080452;11154282;11239456;11248061;11256631;11278509;11309417;11313963;11337467;11477095;11498787;11535547;11580245;11684015;11691922;11782381;11799066;11809887;11839739;11839740;11839741;11842113;11867550;11935313;11950880;12023982;12036913;12077133;12205100;12226092;12239151;12242278;12242698;12359753;12379650;12427746;12442171;12477932;12606939;12619154;12650908;12673366;12750242;12750285;12815053;12826751;12883740;12917330;14530271;14559999;14580352;14599770;14636569;14724582;14755242;15036125;15064730;15065660;15095978;15102670;15123651;15138485;15165851;15226506;15313891;15316005;15330855;15466868;15489334;15611070;15665856;15671039;15713648;15734952;15750625;15766559;15800615;15800651;15899844;15944450;15958648;15965906;16000324;16018971;16169070;16186822;16215984;16261408;16367760;16395335;16398215;16415210;16427610;16428451;16432240;16475125;16477874;16511829;16516153;16596227;16624636;16629903;16638864;16644292;16723430;16756962;16793542;16837909;16843501;16890287;16902145;16914443;16920159;16979659;16983346;16990250;17001309;17007294;17063276;17078101;17090598;17118963;17118968;17302439;17353931;17483304;17483448;17513613;17515903;17515904;17541404;17544928;17549502;17557904;17591918;17616806;17639080;17666788;17672918;17685459;17709342;17761709;17802824;17889711;17947332;18033323;18173750;18203022;18247557;18256600;18317453;18413737;18417535;18439040;18449195;18535008;18544565;18562274;18570881;18581889;18617519;18618591;18632222;18676680;18752184;18756535;18761348;18768166;18769160;18794841;18834951;18840682;18950845;18974064;18977234;18978339;18990028;19004837;19010915;19027952;19060884;19064565;19064572;19071013;19074885;19092295;19097142;19116388;19117011;19122145;19124506;19133161;19140342;19150983;19157634;19165339;19170196;19214744;19237606;19251090;19253839;19275579;19285032;19303847;19329439;19338310;19386720;19396164;19426727;19427856;19505457;19536092;19540122;19549356;19549900;19573080;19584259;19584272;19587234;19606696;19622740;19625176;19628690;19632996;19661089;19671661;19671671;19690177;19692168;19725871;19766185;19772428;19773279;19789190;19884492;19914098;19952118;19956565;19960343;19995904;19996105;20002770;20004634;20054644;20092964;20107607;20150366;20154705;20188668;20189471;20207730;20215422;20236180;20299221;20301425;20332121;20348101;20358297;20368715;20373286;20396943;20400964;20413593;20453000;20454923;20461453;20496165;20522537;20602259;20610542;20623332;20625943;20640595;20644561;20713120;20729832;20729858;20729859;20731661;20804747;20813000;20817928;20871616;20890127;21056573;21076401;21103343;21104022;21107697;21110082;21113733;21139048;21176850;21239234;21252223;21363882;21397596;21399666;21409565;21423218;21464277;21486569;21501635;21601571;21653319;21670257;21704413;21708019;21725251;21725594;21729596;21732698;21740187;21744352;21773671;21789034;21810436;21857994;21858113;21890473;21906983;21915862;21926087;21952639;21965664;21987080;21988832;21998700;22013044;22102073;22174876;22274865;22275364;22305526;22325354;22362735;22580645;22587838;22611952;22613844;22634097;22645136;22729783;22778135;22789542;22863883;22865450;22935458;23065228;23065657;23091899;23149936;23161237;23266955;23277564;23285190;23300655;23318456;23341130;23393192;23401855;23404160;23509288;23570471;23585894;23591384;23625599;23678008;23754376;23757189;23801766;23810717;23868022;23955800;23977219;24005565;24046452;24056534;24085845;24088786;24108124;24189466;24223453;24244429;24375044;24457040;24525463;24599673;24616504;24808016;24948741;7988572;8188269;8358431;8479919;8610150;8617246;8675009;8703992;8812453;8816780;8921390;8929543;9008167;9121429;9126738;9192668;9321665;9380510;9396801;9405383;9461559;9523196;9560268;9607320;9774970;9811893;9826763;9880493;9891849 5888 E9PI54;E9PJ30;E9PNT5;H0YD61;Q06609;Q9NZG9 ABBA01038434;ABBA01038435;ABBA01038436;AC012476;AC022405;AF165088;AF203691;AF233740;AK131299;AK291969;AK303089;AK313503;AMYH02030246;AMYH02030247;AMYH02030248;AMYH02030249;AMYH02030250;AMYH02030251;AU100170;AY196785;AY425955;AY608888;BC001459;BT019705;CH471125;CR536559;D13804;D14134;EU362635;NG_012120;NM_001164269;NM_001164270;NM_002875;NM_133487;XM_006720626 AAD49705;AAF61901;AAF69145;AAH01459;AAN87149;AAR07948;AAT37157;AAV38511;ABY59731;BAA02962;BAA03189;BAD18467;BAF84658;BAG36283;BAG64200;CAG38796;EAW92431;EAW92432;EAW92433;EAW92434;EAW92435;NP_001157741;NP_001157742;NP_002866;NP_597994;Q06609;XP_006720689 Hs.631709 1663566;1773685;1793910;1796648;2166149;2170924 D15S1195;D15S1311;PMC30636P1;RAD51_789;RH65435;STS-D14134 BRCC5;HRAD51;HsRad51;HsT16930;MRMV2;RAD51A;RECA BRCA1/BRCA2-containing complex, subunit 5;DNA repair protein RAD51 homolog 1;OTTHUMP00000160544;OTTHUMP00000231940;OTTHUMP00000231941;OTTHUMP00000231942;RAD51 homolog (RecA homolog, E. coli);RAD51 homolog A;RecA, E. coli, homolog of;RecA-like protein;recombination protein A;truncated RAD51 APPROVED protein-coding ENSG00000051180 HGNC:9817 01557 179617 REVIEWED 1343371 RAET1G retinoic acid early transcript 1G Members of the RAET1 family, such as RAET1G, are major histocompatibility complex (MHC) class I-related genes located within a 180-kb cluster on chromosome 6q24.2-q25.3. RAET1 proteins contain MHC class I-like alpha-1 and alpha-2 domains. RAET1E (MIM 609243) and RAET1G differ from the other RAET1 proteins (e.g., RAET1I, or ULBP1; MIM 605697) in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008] 6 6 6 q24.1-q25.1 150972682 150978882 - 150238014 150244269 - 149916878 149923133 - 6480464 11827464;12477932;15240696;19223974;19424970;19688209;20219610;20304922;20379614 353091 C9JAK3;Q6H3X3 ABBA01025669;AK310157;AL583835;AMYH02014699;AY172579;AY172580;BC096719;BC098152;CH471051;NM_001001788;XR_245515 AAH96719;AAH98152;AAO22238;AAO22239;EAW47779;NP_001001788;Q6H3X3 Hs.558792 ULBP5 OTTHUMP00000017407;OTTHUMP00000212236;UL-16 binding protein 5;retinoic acid early transcript 1G protein;retinoic acid early transcript 1G pseudogene APPROVED protein-coding ENSG00000203722 HGNC:16795 16467 609244 PROVISIONAL 1344389 RAET1K retinoic acid early transcript 1K pseudogene 6 6 6 q25.1 151053771 151060896 - 150319155 150326280 - 149998019 150005144 - 11827464 646024 ABBA01025669;AF425244;AL355497;AMYH02014701;NR_024045 Hs.560537 1699722;1758273 RH103466;SHGC-147881 pseudo ENSG00000218358 HGNC:16797 PROVISIONAL 1346440 RAET1M retinoic acid early transcript 1M pseudogene 6 6 6 q25.1 151088549 151089346 + 150353905 150354702 + 150032769 150033566 + 11827464 353094 ABBA01025669;AL355497;AMYH02014701;NG_008390 pseudo HGNC:16799 INFERRED 1317874 RAD9B RAD9 homolog B (S. pombe) INVOLVED IN DNA damage checkpoint (inferred); DNA repair (inferred); DNA replication (inferred); FOUND IN checkpoint clamp complex (inferred); nucleoplasm (inferred); INTERACTS WITH (+)-catechin; ethyl methanesulfonate; formaldehyde 12 12 12 q24.11 110566764 110596591 + 110940005 110973952 + 110501724 110532086 + 6480464 12477932;12791985;14500360;14611806;14702039;15489334;16344560;16365875;22399810 144715 B4DX60;B4DYM6;H7BY23;J3KPN7;Q6WBX8 ABBA01005110;ABBA01005111;AC002350;AK058176;AK097665;AK124109;AK301826;AK302512;AMYH02027186;AY297459;BC037353;BC047645;BC068031;BI459646;CH471054;DB052478;NM_001286531;NM_001286532;NM_001286533;NM_001286534;NM_001286535;NM_001286536;NM_152442;XM_005253849 AAH47645;AAH68031;AAQ62859;BAB71704;BAC05138;BAC85774;BAG63272;BAG63788;EAW97920;EAW97921;EAW97922;EAW97923;EAW97924;EAW97925;EAW97926;NP_001273460;NP_001273461;NP_001273462;NP_001273463;NP_001273464;NP_001273465;NP_689655;Q6WBX8;XP_005253906 Hs.97794 1697554 RH102285 FLJ40346;MGC75426;hRAD9B DNA repair exonuclease rad9 homolog B;OTTHUMP00000202792;OTTHUMP00000202793;OTTHUMP00000202794;OTTHUMP00000202796;OTTHUMP00000241441;cell cycle checkpoint control protein RAD9B;cell cycle checkpoint control protein RAD9B homolog APPROVED protein-coding ENSG00000151164 HGNC:21700 608368 VALIDATED 1605530 RAF1P1 RAF1 pseudogene 1 4 4 4 p16.1 10721416 10723149 - 10256550 10258283 - 10254926 10256659 - 348910 ABBA01032517;AC006499;AMYH02008746;NG_003018 2115260 D4S572 APPROVED pseudo HGNC:9830 INFERRED 1348923 RAF1P2 v-raf-1 murine leukemia viral oncogene homolog 1pseudogene 2 494550 HGNC:18616 1313706 RAG2 recombination activating gene 2 This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008] 11 11 11 p13 36765924 36772260 - 36613493 36619829 - 36591943 36598279 - 1580863;1599402;1599403;6480464;6907045;7240710;8554872;8699517;9479074 23642229;8810255;9630231 10330156;10601032;10891502;10892649;11123315;11134329;11214319;12115231;12145704;12200379;12355431;12477932;12757263;1283330;12861017;12897800;1428003;14530271;14624253;14726805;15025726;15249552;15295705;15489334;15843554;15949444;16111638;16344560;17075247;17476358;17982069;18033247;18089566;1832998;18463379;19359154;19404965;19573080;19773279;19859091;20234091;20237496;20568250;20813000;21131235;21481940;21624848;21625022;21655267;22157821;22287717;22424479;22737248;22841008;22984564;23333304;23438597;2360047;24390342;24472623;7774617;7963556;8521468;8777717;9036966;9742255;9760994;9885569 5897 E9PPU5;E9PQB9;P55895 ABBA01060845;AC139427;AF080577;AK292664;AMYH02024611;AW058148;AY011962;BC022397;BM457214;BM463455;CH471064;DB124002;DB142398;DB143931;DB146077;DB151960;DB165259;M94633;NG_007573;NG_033154;NM_000536;NM_001243785;NM_001243786;S78372 AAC35287;AAG38705;AAH22397;ABM82938;ABM86127;BAF85353;EAW68117;NP_000527;NP_001230714;NP_001230715;P55895 Hs.714519 1791318;1796656;2190819 PMC102178P2;RAG2;RAG2_770 RAG-2 OTTHUMP00000232776;V(D)J recombination-activating protein 2 APPROVED protein-coding ENSG00000175097 HGNC:9832 08913 179616;233650;601457;603554 REVIEWED 5686921 RAI1-AS1 RAI1 antisense RNA 1 p11.2 100861516 BX366317;BX401587 Hs.624874 APPROVED ncrna HGNC:40496 1323051 RAE1 ribonucleic acid export 1 Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.31 52666382 52693760 + 55926145 55953519 + 57351089 57378463 + 1580863;6480464 10209021;10601273;10668806;11352911;11520456;11780052;11831386;12228227;12477932;14702039;15489334;15629720;15778465;15851029;16169070;16196087;16479161;17172455;18212744;18832153;19615732;19738201;19745842;20016259;20360068;20498086;20530257;20946988;21139048;21145461;21467841;21799930;21890473;21906983;21963094;22118674;22357847;22505724;22797925;22939629;23000965;23028327;23169621;23443559;23444366;23455922;23667531;24250222;24255178;24778252;24927547;25036637;8982867;9256445;9370289;9918853 8480 B0QZ36;B0QZ37;E9PPG9;E9PQ57;P78406 ABBA01052924;AI341915;AK055170;AK126024;AK292247;AK307966;AK309069;AK309743;AL109955;AL135939;AMYH02037352;AY336091;AY349350;BC103754;BC106923;BC106924;CH471077;NM_001015885;NM_003610;U84720;XM_005260582;XM_005260583 AAC28126;AAI03755;AAI06924;AAI06925;AAR04856;AAR24621;BAF84936;EAW75523;EAW75524;EAW75525;NP_001015885;NP_003601;P78406;XP_005260639;XP_005260640 Hs.371698 1665562;1680286;2114287;2114289;2133087;2150872 A001X02;A007F20;D20S740;G06282;G19734;RH91738 FLJ30608;MGC117333;MGC126076;MGC126077;MIG14;MRNP41;Mnrp41;dJ481F12.3;dJ800J21.1 OTTHUMP00000031366;OTTHUMP00000166110;OTTHUMP00000166111;OTTHUMP00000233932;OTTHUMP00000233933;RAE1 RNA export 1 homolog;homolog of yeast Rae1 (Bharathi) mRNA-associated protein of 41 kDa (Kraemer);mRNA export factor;mRNA export protein;mRNA-associated protein MRNP 41;mRNA-binding protein, 41-kD;migration-inducing gene 14;rae1 protein homolog APPROVED protein-coding HGNC:9828 11939 603343 REVIEWED 737596 RAF1 Raf-1 proto-oncogene, serine/threonine kinase This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008] 3 3 3 p25 12563426 12643994 - 12625100 12705700 - 12583601 12664201 - 1580696;1580668;1580863;1357969;1580106;1302749;1626216;2293882;6480464;5686410;6484113;6907045;7240710;8554872;8699517 12835716;12843393;15886202;16172266;16508002;17126425;17310240;22177953 10064593;10205168;10329666;10369681;10373531;10433554;10454553;10486249;10497893;10498616;10523633;10523642;10531364;10557073;10576742;10585452;10611249;10620507;10712923;10757792;10783161;10837247;10848612;10869570;10882715;10887173;10922060;10958680;10969079;11005817;11044439;11171046;11226259;11231577;11306563;11325826;11350735;11409918;11427728;11447113;11463741;11520933;11585916;11585923;11604401;11676916;11697890;11733498;11741534;11751906;11756411;11784866;11788587;11853019;11948406;11969417;11971957;11997508;12010819;12079506;12087097;12127063;12194967;12237340;12244094;12360521;12374792;12379659;12391160;12429936;12477932;12488548;12490852;12551923;12620389;12626521;12663662;12682854;12691824;12717443;12734410;12774123;12851216;12865432;12925535;12954639;12975377;14597674;14623285;14654780;14654844;14688025;14724584;14724641;15031288;15035987;15041731;15067053;15075335;15118098;15122343;15150271;15211515;15215316;15302887;15314064;15385642;15451031;15459208;15470083;15485920;15489334;15520859;15591313;15618521;15653554;15657590;15662129;15664191;15666389;15674327;15688026;15705808;15710605;15711535;15752761;15778465;15845549;15849194;15854902;15866172;15899852;15925322;15935327;15936278;15943972;16009725;16029117;16041367;16086581;16093354;1611909;1612588;16172610;16239230;16266749;16301319;16330544;16332724;16364920;1639773;16413928;16465392;16504566;16537381;16537561;16565089;16569214;16575407;16649144;16707572;16803888;16837009;16862215;16883571;16909118;16924233;16964381;17018604;17064357;17081983;17097642;17243098;17277048;17314511;17332776;17353931;17397260;17409432;17428866;17462920;17572489;17603482;17603483;17614099;17635919;17666399;17699868;17724343;17889508;17889669;17979178;17998336;18006502;18022816;18064632;18182859;18241070;18294816;18316782;18332145;18356164;18465753;1846778;18472967;18483265;18556463;18592002;18660489;18708364;18715846;18794803;18952605;19001375;19011619;19020799;19029954;19037990;19047752;19058874;19122653;19133693;19197339;19206169;19298812;19357705;19363522;19380724;19492075;19595761;19608861;19633425;19638574;19638615;19667065;19710016;19718030;19730683;19737955;19801192;19802003;19805522;19812696;19825990;19881545;19895838;19913121;19917255;19953087;19953625;20039095;20052757;20071468;20086174;20159553;20212043;20230813;20234004;20301303;20301557;20302979;20364151;20372086;20389169;20404846;20489206;20543023;20630999;20679480;20686565;20688353;20854332;20868603;20947508;21048031;21122381;21139044;21139048;21207082;21215703;21336309;21348951;21419342;21514245;21577205;21617351;21808062;21841781;21871886;21881167;21892329;21917714;21988832;22020327;22081024;22096607;22103831;22110214;22131876;22138288;22222486;22225925;22262839;22282237;22350907;22389993;22421411;22447278;22464151;22556409;22605333;22678362;22711539;22738312;22752602;22826437;22833462;22907845;22922483;22926515;22935974;22939624;23076151;23087049;23105109;23118896;23153539;23157514;23352452;23360980;23383273;23455922;23517740;23554973;23559827;23602568;23610963;23737487;23760062;23891004;23923067;24097068;24108181;24167568;24223781;24250222;24255178;24371145;24427333;2475255;24777450;24778252;25022756;25036637;2955285;2993863;3003687;3616625;7477354;7517401;7523381;7559537;7628630;7644510;7730360;7731720;7744247;7766599;7782277;7791872;7862125;7935795;7939632;7969158;8035810;8063729;8084603;8125298;8157000;8307946;8321321;8332187;8332195;8349614;8349631;8393135;8394352;8408024;8530446;8621729;8628317;8663231;8692945;8702721;8710867;8753867;8756332;8816460;8876196;8887682;8889548;8900182;8910675;8911690;8929531;8929532;8939988;8962087;9001246;9069260;9069267;9091312;9099670;9115221;9144171;9150145;9153224;9154803;9230211;9234708;9261098;9311917;9315742;9446616;9488663;9523700;9553107;9624170;9632690;9658081;9671314;9689060;9710607;9765203;9808624;9819434;9823899;9867809 5894 B4E0X2;B4E1N6;H7C155;L7RRS6;P04049 ABBA01025197;ABBA01025198;ABBA01025199;ABBA01025200;AC018500;AC026170;AK226028;AK303561;AK303920;AK312248;AMYH02006294;AX696362;AY271661;BC018119;BQ221862;BU683389;CH471055;DC342671;EU332868;HI376400;JC006878;JX512459;L00212;NG_007467;NM_002880;X03484;XM_005265355;XM_005265357;XM_005265358;XM_005265359;XM_005265360 AAA60247;AAH18119;AAP03432;ABY87557;AGC09606;BAG35180;BAG64584;BAG64848;CAA27204;CAD86886;CBX55729;CDL93489;EAW64134;EAW64135;NP_002871;P04049;XP_005265412;XP_005265414;XP_005265415;XP_005265416;XP_005265417 Hs.159130 1671810;1725089;1741459;1742967;1767656;1796652;2116390;2146385;2160902;2177854;5021614;5093796 A009W45;D3S2870E;D3S4000;G15882;G32929;GDB:181223;GDB:217154;PZD00074_allele_9942870;RAF1_478;RH118840;SHGC-57030;STS-N27641 CMD1NN;CRAF;NS5;Raf-1;c-Raf C-Raf proto-oncogene, serine/threonine kinase;OTTHUMP00000160218;OTTHUMP00000207813;OTTHUMP00000209389;Oncogene RAF1;RAF proto-oncogene serine/threonine-protein kinase;murine leukemia viral (v-raf-1) oncogene homolog 1 (3611-msv);proto-oncogene c-RAF;raf proto-oncogene serine/threonine protein kinase;v-raf-1 murine leukemia viral oncogene homolog 1 APPROVED protein-coding ENSG00000132155 HGNC:9829 01265 164760;611553;611554;615916 REVIEWED 1314269 RAI14 retinoic acid induced 14 FOUND IN actin cytoskeleton; cytoplasm; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 5 5 5 p13.3-p13.2 34538244 34714519 + 34656342 34832717 + 34656328 34832612 + 6480464 10718198;11042181;11168586;12477932;14702039;15324660;15489334;16110356;16344560;16484223;16729964;17353931;18685082;19454037;19596686;20360068;20379614;20473970;20876399;21139048;21890473;21903422;21906983;22558309;22990118;23000965;23398456;24332808 26064 D6R9G4;D6R9G6;D6RB25;D6RB27;D6RBW6;D6RBY4;D6RDL2;D6RE17;D6REL2;D6RF74;Q9P0K7 AB037755;ABBA01039265;ABBA01039266;ABBA01039267;AC016602;AC025754;AC026801;AF155135;AK023135;AK297964;AK308306;AK308455;AK314379;AL050011;AMYH02011151;AMYH02011152;AMYH02011153;AY317139;AY354204;BC028681;BC052988;CH471119;DA485361;DB036130;DN994273;NM_001145520;NM_001145521;NM_001145522;NM_001145523;NM_001145525;NM_015577;XM_006714469 AAF44722;AAH52988;AAP84319;AAQ63889;BAA92572;BAG51161;BAG60275;CAB43236;EAW55898;NP_001138992;NP_001138993;NP_001138994;NP_001138995;NP_001138997;NP_056392;Q9P0K7;XP_006714532 Hs.431400 1336473;1339530;1646676;1679161;1679423;1703360;1721921;1762067;2118187;2121154;2137401;2147330;2147332;5093268;7183235;7186190 A006H13;A009K29;D5S426;D5S663;G20803;G32618;G59993;RH15956;RH47263;RH65071;SHGC-145977;SHGC-3844;SHGC-68648;STS-Z40817 DKFZp564G013;KIAA1334;RAI13 NORPEG;OTTHUMP00000221025;OTTHUMP00000221026;OTTHUMP00000221029;OTTHUMP00000221030;OTTHUMP00000221031;OTTHUMP00000221032;ankycorbin;ankyrin repeat and coiled-coil structure-containing protein;novel retinal pigment epithelial cell protein;retinoic acid-induced protein 14 protein-coding ENSG00000039560 HGNC:14873 09416 606586 VALIDATED 1343462 RAI4 retinoic acid induced 4 23453 HGNC:9837 1350109 RAI5 retinoic acid induced 5 22972 HGNC:9838 1318758 RAET1L retinoic acid early transcript 1L RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycoproteins that contain extracellular alpha-1 and alpha-2 domains, but they lack the membrane proximal Ig-like alpha-3 domain. Most RAET1 glycoproteins are anchored to the membrane via glycosylphosphatidylinositol (GPI) linkage (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008] 6 6 6 q25.1 151075909 151081313 - 150341266 150346668 - 150020130 150025532 - 6480464 11827464;12477932;16344560;19658097;19688209;20219610;20237496;23025544 154064 Q5VY80 ABBA01025669;AL355497;AMYH02014701;AY039682;BC131600;CH471051;DA442768;NM_130900 AAI31601;AAI48628;AAI53192;AAK91503;EAW47773;EAW47774;NP_570970;Q5VY80 Hs.558659 ULBP6 OTTHUMP00000017409;UL16 binding protein 6;retinoic acid early transcript 1L protein APPROVED protein-coding ENSG00000155918 HGNC:16798 17949 611047 VALIDATED 1317876 RAG1 recombination activating gene 1 The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008] 11 11 11 p13 36741994 36753743 + 36532053 36601312 + 36510372 36579762 + 1580863;1599402;1599403;6480464;6907045;7240710;8554872;8699517 8810255;9630231 10490593;10606976;10701853;10891452;11121059;11133745;11214319;11313270;12115231;12145704;12200379;12244173;12355431;12477932;12757263;1283330;12853125;12861017;14500629;14624253;14726805;15249552;15295705;15843554;16061569;1612612;16276422;16465622;16738334;16857995;17075247;17307402;17474147;17890453;17982069;18089566;18463379;18579371;18676680;18701881;18768869;18830263;19074885;19116388;19118899;19170196;19359154;19404965;19458910;19573080;19625176;19692168;19773279;19859091;19898481;19913121;20122409;20237496;20453000;20489056;20568250;20628086;20703256;20800603;20813000;20956421;21131235;21256161;21481940;21502542;21624848;21625022;21655267;21771083;22157821;22424479;22891626;22939624;22942284;23438597;23630330;23716691;23755767;23891352;24122031;24290284;24390342;24418478;24472623;24666246;2598259;8016130;8052633;8777717;8844221;9036966;9379036;9394797;9885222 5896 P15918 ABBA01060845;AC061999;AC139427;AMYH02024611;AY011903;AY130302;BC037344;CH471064;HH794624;M29474;NG_007528;NM_000448;XM_005253041 AAA60248;AAG38421;AAH37344;AAM77798;CBX87169;EAW68118;NP_000439;P15918;XP_005253098 Hs.677010;Hs.73958 1742575;1743421;1745583;1768834;1768872;1792780;1796654;1857130;2144654;2167422 GDB:197902;GDB:316201;GDB:624547;PMC164518P1;RAG1;RAG1_1421;SGC44589;SHGC-44589;SHGC-6028;STS-M29474 MGC43321;RAG-1;RNF74 OTTHUMP00000232775;RING finger protein 74;V(D)J recombination-activating protein 1;recombination activating protein 1 APPROVED protein-coding ENSG00000166349 HGNC:9831 01556 179615;233650;601457;603554;609889 REVIEWED 1351800 RALB v-ral simian leukemia viral oncogene homolog B This gene encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. [provided by RefSeq, Jul 2008] 2 2 2 q14.2 114337260 114379139 + 120997646 121052287 + 120240070 120294711 + 1580863;6480464;6907045;8554872 11520933;11744922;12034722;12477932;12856001;12874025;14525976;15489334;15817490;16189514;17018283;17174914;17606711;17709381;17875936;18227351;18756269;18976975;19166349;19306925;19636851;20379614;20801877;20940393;21139048;2120779;21241894;21674799;21810610;22013078;22053931;22286270;22331470;22393054;22700969;22790202;22939629;23830877;24056301;24747441;24816145;2662142;7673236;8972729;9297626;9422736 5899 C9J6B1;C9JQB3;C9JYR1;F8WEQ6;P11234 ABBA01045914;ABBA01045915;AC012363;AF493911;AK127675;AK303214;AK304588;AK312453;AMYH02004660;AMYH02004661;BC018163;BQ893549;BT006953;CH471103;M35416;NM_002881;X15015;XM_005263724;XM_005263727;XM_005263728;XM_005263729 AAA60250;AAH18163;AAM12625;AAP35599;AAY14800;ADZ15983;BAC87080;BAG35360;BAG64302;BAG65376;CAA33119;EAW95240;EAW95241;EAW95242;NP_002872;P11234;XP_005263781;XP_005263784;XP_005263785;XP_005263786 Hs.469820 1651253;1657179;1850783;1850785;1852344 A005V12;D2S2644;G20530;RH69131;WI-20388 GTP binding protein;OTTHUMP00000162132;OTTHUMP00000204385;OTTHUMP00000207262;OTTHUMP00000207264;RAS-like protein B;ras related GTP binding protein;ras related GTP binding protein B;ras-related protein Ral-B;v-ral simian leukemia viral oncogene homolog B;v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) APPROVED protein-coding ENSG00000144118 HGNC:9840 01550 179551 REVIEWED 737281 RALBP1 ralA binding protein 1 RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010] 18 18 18 p11.3 9359767 9422335 + 9475530 9538106 + 9473436 9538108 + 1580863;2324917;6480464;6907045 17606711 10764745;10848592;10910768;10924126;11437348;11732624;11882656;12433796;12477932;12527936;12621024;12632060;12632061;12775724;12887920;12888294;14525976;15247912;15310755;15451561;15489334;15592429;15707977;16087181;16188027;16189514;16227629;16890208;17047155;17081983;17703191;17706599;17982077;17993611;18086001;18474607;18628450;18976975;19073149;19375851;19417134;19626587;20183533;21170262;21241894;21671802;21822277;21890473;21906983;22331470;22939629;23000965;23276796;23419874;23576547;23718855;24250222;24450627;24816145;7623849;7673236;8570186;9395447;9422736;9753634 10928 E7ENF8;J3QLT3;Q15311 AB209924;ABBA01049949;AK300845;AMYH02034288;AP005432;AY517554;BC013126;BF794440;BQ224100;BQ674032;BX352266;CH471113;L42542;NM_006788;XM_006722295;XM_006722296 AAB00103;AAH13126;AAT44527;ABM82530;ABW03389;BAD93161;BAG62496;EAX01601;EAX01602;EAX01603;EAX01604;EAX01605;NP_006779;Q15311;XP_006722358;XP_006722359 Hs.528993 1657899;1694564;1740249;1855320;5125038 D18S1082;D18S910E;G43251;RH80877;SHGC-32001 RIP1;RLIP1;RLIP76 76 kDa Ral-interacting protein;DNP-SG ATPase;OTTHUMP00000162351;dinitrophenyl S-glutathione ATPase;ral-interacting protein 1;ralA-binding protein 1 APPROVED protein-coding ENSG00000017797 HGNC:9841 09013 605801 VALIDATED 1354223 RALA v-ral simian leukemia viral oncogene homolog A (ras related) The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [provided by RefSeq, Jul 2008] 7 7 7 p15-p13 39650672 39735235 + 39663152 39747723 + 39623553 39708124 + 1580863;6480464;6907045 10051605;10329639;10848592;10889189;11167825;11406615;11520933;11744922;11786539;12034722;12477932;12509462;12624092;12690205;12839989;12842888;12853948;12856001;12874025;14525976;14597674;15130921;15231748;15489334;15592429;15809419;15817490;15920473;15950903;16177825;16344560;16964283;17174914;17237388;17524504;17540176;17606711;17709381;17875936;18756269;18948269;1903399;19056867;19306925;19322201;19414599;19802010;19822090;19901077;20018811;20379614;20579884;21139048;21170262;21199803;21241894;21282111;21346190;21441953;21634118;21645515;21810610;21822277;21890473;21906983;22013078;22053931;22330069;22442671;22580611;22700969;22761837;22790202;22939629;23000965;23770673;23830877;23874603;24056301;24063364;24222664;24816145;2550440;2662142;3292391;7623849;7673236;8889548;8939933;9188503;9207251;9297626;9422736;9488663;9688545 5898 C9JPE8;H7C3P7;P11233 ABBA01058143;ABBA01058144;AC004837;AF086082;AF493910;AK026850;AK308109;AMYH02015563;AMYH02015564;AMYH02015565;AMYH02015566;AU132355;BC039858;BM930625;CH236951;CH471073;DC313757;M29893;NM_005402;X15014;XM_006715762;XM_006715763 AAA36542;AAH39858;AAM12624;CAA33118;EAL23994;EAW94122;EAW94123;NP_005393;P11233;XP_006715825;XP_006715826 Hs.6906 1337233;1337758;1649815;1649817;1729085;1790577;1856251;1856746;2142321;2164656;7185062;7185321 057XC3;A001Y43;D7S485;D7S668;G19799;GDB:1318322;HSC207_(7Gr393mb);NIB440;RH47850;Rasl1 MGC48949;RAL OTTHUMP00000158977;OTTHUMP00000207663;RAS-like protein A;Ras family small GTP binding protein RALA;ras related GTP binding protein A;ras-related protein Ral-A APPROVED protein-coding ENSG00000006451 HGNC:9839 01549 179550 REVIEWED 1343955 RALGAPA2 Ral GTPase activating protein, alpha subunit 2 (catalytic) ENCODES a protein that exhibits protein heterodimerization activity (ortholog); Ral GTPase activator activity (ortholog); INVOLVED IN activation of Ral GTPase activity (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; extracellular space; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 3-methylcholanthrene; calcitriol 20 20 20 p11.22 20447485 20767346 - 20370202 20693281 - 20389558 20712638 - 6480464;8554872 10574462;12477932;14702039;16490346;19520869;22450745;23382691;24250222;8619474;9110174 57186 H7BZA8;H7C1F9;Q2PPJ7 ABBA01054089;ABBA01054090;ABBA01054091;AK002211;AK022881;AK026194;AK127228;AL078634;AL121896;AL157718;AL161658;AMYH02036804;AMYH02036805;AMYH02036806;AMYH02036807;AMYH02036808;AY007097;AY007156;BC013749;BC171842;BE467241;CR990457;DQ310704;KF511293;NM_020343;XM_005260768;XM_006723598;XM_006723599 AAH13749;ABC33805;BAB14290;NP_065076;Q2PPJ7;XP_005260825;XP_006723661;XP_006723662 Hs.472285 1648085;1651878;1659280;1665826;1670181;1714257;1718219;1729516;1751309;1769447;1849507;1852685;2138256;2157803;2158124;2168353;2174696 D20S1131;D20S42;D20S525E;D20S531E;G21263;RH119907;RH122879;RH47728;RH70079;SHGC-105200;SHGC-31698;WI-18168;WI-18172;Z94351;Z94638;Z94659;Z94689 AS250;C20orf74;FLJ12819;KIAA1272;RP11-470C13.2;bA287B20.1;dJ1049G11;dJ1049G11.4;p220 250 kDa substrate of Akt;OTTHUMP00000030391;RapGAPalpha2;akt substrate AS250;ral GTPase-activating protein alpha subunit 2;ral GTPase-activating protein subunit alpha-2 APPROVED protein-coding ENSG00000188559 HGNC:16207 VALIDATED 1318304 RAI1 retinoic acid induced 1 This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18524196 18654240 + 17584787 17714767 + 17681473 17811453 + 1599405;1580863;6480464;7240710;8554872;8699517 12652298 10036180;10915763;11347906;11404004;11997338;12477932;12837267;15489334;15565467;15788730;15885892;16189514;17081983;17468296;19236431;19471022;20211142;20301487;20634891;20663924;20738874;20932317;21545756;21738487;21739587;21857958;21897445;21900206;22578325;22586326;23000965;23028815;23345394;24163370;24205348;24262325 10743 A8MXE8;J3QLL5;J3QR08;Q7Z5J4 AB058723;ABBA01009745;ABBA01009746;ABBA01009747;ABBA01009748;AC078903;AC122129;AJ230819;AJ271790;AJ271791;AL133649;AL834468;AL834486;AMYH02033092;AMYH02033093;AMYH02033094;AMYH02033095;AY172136;BC021209;CH471196;NG_007101;NM_030665 AAH21209;AAO31738;BAB47449;CAB63768;CAC20423;CAC20424;CAD39127;CAD39144;EAW55692;EAW55693;EAW55694;EAW55695;EAW55696;NP_109590;Q7Z5J4 Hs.655395;Hs.727059 1678637;1700052;1717313;1729446;1767101;1772691;2108889;2120305;2137102 AF021115;AF021118;D17S258;G09710;G37382;RAI1_9171;RH103639;RH122147;RH16212 DKFZp434A139;KIAA1820;MGC12824;SMCR;SMS OTTHUMP00000065594;Smith-Magenis syndrome chromosome region;retinoic acid-induced protein 1 APPROVED protein-coding ENSG00000108557 HGNC:9834 07406 182290;607642 REVIEWED 731635 RALGAPA1 Ral GTPase activating protein, alpha subunit 1 (catalytic) ENCODES a protein that exhibits protein heterodimerization activity; Ral GTPase activator activity (ortholog); INVOLVED IN activation of Ral GTPase activity (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (ortholog); nucleus (ortholog); INTERACTS WITH arsenous acid; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 14 14 14 q13.2 15871418 16142289 - 36007558 36278432 - 35538352 35809226 - 727202;6480464;8554872 12200424 10048485;12477932;14702039;15037602;15252450;15489334;15498464;16903783;18029348;19520869;19710015;19733229;20379614;20811636;21139048;24255178;24816145 253959 H0YJ04;H0YJB5;Q6GYQ0 AB020691;AB511280;ABBA01061507;ABBA01061508;ABBA01061509;ABBA01061510;AK022988;AK126975;AL137818;AL160231;AL162311;AL834362;AMYH02029010;AMYH02029011;AMYH02029012;AMYH02029013;AY596970;AY596971;BC016305;BC042013;BC042045;BC150596;CH471078;DQ786317;NM_001283043;NM_001283044;NM_014990;NM_194301;XM_005267491;XM_005267492;XM_005267493;XM_005267498;XM_006720098;XM_006720099;XM_006720100;XM_006720101;XM_006720102;XM_006720103;XM_006720104 AAH16305;AAH42013;AAH42045;AAI50597;AAI68361;AAT49271;AAT49272;BAA74907;BAB14349;BAC86772;BAH83561;CAD39026;EAW65868;EAW65869;EAW65870;EAW65871;NP_001269972;NP_001269973;NP_055805;NP_919277;Q6GYQ0;XP_005267548;XP_005267549;XP_005267550;XP_005267555;XP_006720161;XP_006720162;XP_006720163;XP_006720164;XP_006720165;XP_006720166;XP_006720167 Hs.113150 1337486;1650056;1685183;1689428;1699874;1713437;1778722;1849402;1850382;2115978;2120219;2145503;2147391;2147862;2167766;2176840;2187219;5020242 A003M46;D11S2612;D14S1301;D14S253;D14S888;G35680;G35696;G35827;G36040;G36335;RH103545;RH119576;RH1628;RH44915;RH66560;RH74830;RH77860;SHGC-1397 DKFZp566D133;DKFZp667F074;GARNL1;KIAA0884;RalGAPalpha1;TULIP1;p240 GAP-related interacting protein to E12;GAP-related-interacting partner to E12;GRIPE;GTPase activating RANGAP domain-like 1;GTPase activating Rap/RanGAP domain-like 1;GTPase-activating Rap/Ran-GAP domain-like 1;OTTHUMP00000244141;OTTHUMP00000244142;OTTHUMP00000244143;OTTHUMP00000244145;ral GTPase-activating protein alpha subunit 1;ral GTPase-activating protein subunit alpha-1;tuberin-like protein 1 APPROVED protein-coding ENSG00000174373 HGNC:17770 12324 608884 VALIDATED 1352284 RALGAPA1P Ral GTPase activating protein, alpha subunit 1 (catalytic) pseudogene 9 9 9 q31 78788197 78795149 + 108282643 108289987 + 105519824 105527319 + 12477932 26134 ABBA01042814;AL050050;AL158070;AL161627;AMYH02021398;NR_104269 CAB43250 Hs.113150 1685183;1689428;1714305;1849402 D14S1301;RH119933;RH1628;RH74830 DKFZp566D133;GARNL2;GARNL2P;bA235C23.1 APPROVED pseudo HGNC:23203 VALIDATED 1603624 RALGAPB Ral GTPase activating protein, beta subunit (non-catalytic) ENCODES a protein that exhibits protein heterodimerization activity; Ral GTPase activator activity (ortholog); INVOLVED IN activation of Ral GTPase activity (ortholog); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; ethyl methanesulfonate 20 20 20 q11.23 33812295 33918296 + 37101486 37207504 + 38472806 38578861 + 6480464;8554872 10574462;11780052;12168954;12477932;14702039;15302935;15489334;16490346;17474147;19520869;21139048;21697133;21906983;24250222;24255178;24814574;24816145 57148 A2A2F0;B4E2E8;Q6MZJ2;Q86X10 AB033045;AB621815;ABBA01052525;ABBA01052526;AK026771;AK123576;AK125260;AK125916;AK304242;AL035419;AL049868;AL132998;AL834436;AMYH02037062;BC010916;BC018668;BC036425;BC047482;BE669526;BX641080;CH471077;CR936800;DR002520;NM_001282917;NM_001282918;NM_020336;XM_005260462;XM_005260463;XM_005260464;XM_005260465 AAH10916;AAH18668;AAH47482;BAA86533;BAC85649;BAG54177;BAG65110;BAK64151;CAB61346;CAD39096;CAE46039;EAW76018;EAW76019;EAW76020;EAW76021;EAW76022;EAW76023;EAW76024;NP_001269846;NP_001269847;NP_065069;Q86X10;XP_005260519;XP_005260520;XP_005260521;XP_005260522 Hs.598850 1656669;1665172;1710652;1760161;1769074;2118889;2131524;2133798;2153198;2154428;2155866;2164932;2183675;2184371;5113916 D20S1028;D20S690;D20S795;RH48061;RH65522;RH67965;RH69489;RH98514;SHGC-132362;SHGC-2403;SHGC-52414;SHGC-81042;STS-AA024902;WI-13938;Z94367 DKFZp686N19168;DKFZp781M2411;FLJ43270;FLJ43928;KIAA1219;RP5-1100H13.1;RalGAPbeta;dJ1100H13.1;p170 OTTHUMP00000030966;OTTHUMP00000030968;OTTHUMP00000178924;OTTHUMP00000178925;ral GTPase-activating protein beta subunit;ral GTPase-activating protein subunit beta APPROVED protein-coding ENSG00000170471 HGNC:29221 11133 VALIDATED 1351009 RALGDS ral guanine nucleotide dissociation stimulator Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010] 9 9 9 q34.3 106514832 106566263 - 135973107 136024607 - 133097720 133149220 - 1580863;6480464;6907045 10085114;10498616;10545207;10653898;10718198;10783161;10922060;11455956;11520933;11788587;11840339;11889038;12105416;12464615;12477932;14702039;14749388;15031288;15208305;15856025;16007223;16368877;17709381;17992125;18417737;18948269;19801192;20448034;20936779;21525013;21988832;22738401;24250222;7809086;7972015;8094051;8631302;9038168;9150145;9154803;9155018;9297626;9302994;9365783;9400994;9516482;9564038 5900 Q12967;Q5T7U6;Q8N4Y1 AB037729;ABBA01032471;ABBA01032472;AF027169;AF295773;AF295775;AF295776;AF295777;AF295779;AF295780;AK000242;AK024575;AK056462;AK074114;AK090450;AK127524;AK301470;AL162417;AMYH02021822;AMYH02021823;BC021581;BC033198;BC040737;BC059362;BM805052;BY797688;CH471090;DB480866;DC339956;DR003030;HY002335;JC006874;NM_001042368;NM_001271774;NM_001271775;NM_001271776;NM_006266;U14417 AAA52360;AAG02122;AAG10221;AAG10222;AAG10223;AAG10224;AAG10225;AAH21581;AAH33198;AAH59362;AAQ13414;ACT64399;ACT64400;BAA92546;BAB84940;BAC03431;BAC87018;BAG51718;BAH13489;CDL93487;EAW88037;EAW88038;EAW88039;EAW88040;EAW88041;EAW88042;NP_001035827;NP_001258703;NP_001258704;NP_001258705;NP_006257;Q12967 Hs.106185 1666055;1786916;2112842;2189389 D9S2134;MARC_3723-3724:991937466:5;RH11981;SHGC-112288 FLJ20922;RGDS;RGF OTTHUMP00000022458;OTTHUMP00000022459;OTTHUMP00000022460;RalGEF;ral guanine nucleotide exchange factor APPROVED protein-coding ENSG00000160271 HGNC:9842 03371 601619 VALIDATED 8661836 RALY-AS1 RALY antisense RNA 1 20 20 32580294 32582173 - 33992488 33994367 - 101926888 AA447916;AA769840;ABBA01019214;AL034549;AMYH02036965;HG511315;HG511316;NR_109885;NR_109886 Hs.405849 ncrna ENSG00000228265 HGNC:50743 VALIDATED 1344179 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 ENCODES a protein that exhibits Ral guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Ral GTPase activity; regulation of Ral protein signal transduction; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; arsenous acid; benzo[a]pyrene 9 9 9 q33.3 100331657 100640072 + 129677053 129985445 + 126914774 127223166 + 6480464;8554872 10747847;10889189;12477932;15146197;16344560;16368877;16712791;19913121;20379614;20467438;20628086;21494904;21832049;21988832;9205841 9649 H0Y6A2;Q5JS13;Q5JT61 AB002349;ABBA01043819;ABBA01043820;ABBA01043821;ABBA01043822;ABBA01043823;ABBA01043824;ABBA01043825;ABBA01043826;AF221098;AK299149;AL160169;AL356862;AL357623;AL450263;AMYH02021674;AMYH02021675;AMYH02021676;AMYH02021677;BC019329;BC032372;BC033708;BX648170;BY797926;CB162049;CH471090;CN266562;DB332662;DB521440;DR001330;NM_001190728;NM_001190729;NM_001190730;NM_014636;XM_005252318;XM_006717327;XM_006717328;XM_006717329;XM_006717330;XM_006717331;XM_006717332;XM_006717333;XM_006717334;XM_006717335 AAF65253;AAH19329;AAH32372;AAH33708;BAA20808;BAG61198;EAW87645;EAW87646;EAW87647;EAW87648;NP_001177657;NP_001177658;NP_001177659;NP_055451;Q5JS13;XP_005252375;XP_006717390;XP_006717391;XP_006717392;XP_006717393;XP_006717394;XP_006717395;XP_006717396;XP_006717397;XP_006717398 Hs.432842;Hs.606576;Hs.721343 1752527;1762825;1763143;1771865;1773977;1776373;1779990;1795356;2117154;2144939;2160339;2175588;2176980;5017845 A004S38;ANGPTL2;ANGPTL2_1565;RH12756;RH18171;RH46081;RH47940;RH48052;RH65801;SHGC-106409;SHGC-146600;SHGC-146875;SHGC-154241;WI-12530 KIAA0351;RALGEF2;RALGPS1A;RP13-225O21.1 OTTHUMP00000022161;OTTHUMP00000022162;OTTHUMP00000022164;OTTHUMP00000022165;Ral guanine nucleotide exchange factor RalGPS1A;RalGEF 2;ral GEF with PH domain and SH3-binding motif 1;ral guanine nucleotide exchange factor 2;ralA exchange factor RalGPS1;ras-specific guanine nucleotide-releasing factor RalGPS1 protein-coding ENSG00000136828 HGNC:16851 11479 614444 VALIDATED 1353493 RAI2 retinoic acid induced 2 Retinoic acid plays a critical role in development, cellular growth, and differentiation. The specific function of this retinoic acid-induced gene has not yet been determined but it may play a role in development. The chromosomal location of this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked mental retardation, oral-facial-digital syndrome, and Fried syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] X X X p22 21937489 21998776 - 17818169 17879457 - 17800049 17861337 - 1580863;6480464 10049581;10394933;12477932;14702039;15370543;15489334;16189514;16344560;16713569;21832049;21890473;23275563;24722188 10742 B2RBE9;B3KPD7;Q9Y5P3;R4GNA9 ABBA01071580;ABBA01071581;ABBA01071582;ABBA01071583;AF136587;AI291859;AK056214;AK298873;AK314631;AL008711;AMYH02038942;AMYH02038943;BC027937;CH471074;CK902458;DA377448;DA648693;DC420191;DR005700;KF459006;KF459009;KF495768;NG_016739;NM_001172732;NM_001172739;NM_001172743;NM_021785;NR_033348;NR_033349;XM_006724459;XM_006724460;Z93242;Z93929 AAD33688;AAH27937;BAG37196;BAG51649;BAG60991;EAW98933;EAW98934;EAW98935;NP_001166203;NP_001166210;NP_001166214;NP_068557;Q9Y5P3;XP_006724522;XP_006724523 Hs.446680 1686794;1703356;1710602;2155953;2219600 RAI2__5640;RH36543;RH94025;SHGC-68610;SHGC-83987 OTTHUMP00000022997;retinoic acid-induced protein 2 APPROVED protein-coding ENSG00000131831 HGNC:9835 02199 300217 REVIEWED 1316295 RALY RALY heterogeneous nuclear ribonucleoprotein This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 20 20 20 q11.21-q11.23 29334503 29420881 + 32581458 32670991 + 33993652 34083185 + 1580863;6480464;8554872 10500250;11780052;11991638;12477932;15489334;16169070;16713569;16807684;17081983;19615732;19738201;20020773;20360068;20379614;20508642;20618440;21110914;21139048;21145461;21853274;21890473;21906983;22178446;22365833;22505724;22939629;22976474;22994768;23000965;23182705;23614458;23667531;24244333;24332808;24457600;24778252;24816145;25027693;7533788;8125298;8889548;9376072 22913 Q53GL6;Q5QPL9;Q5QPM0;Q5QPM1;Q5QPM2;Q9UKM9 ABBA01019212;ABBA01019213;ABBA01019214;AF148457;AK222915;AK226085;AK291054;AK291079;AK299766;AL031668;AL034549;AMYH02036965;AY635580;BC103753;BC105018;BG751407;BM680768;CH471077;KF456886;L38696;NM_007367;NM_016732;XM_005260334;XM_005260336;XM_006723742;XM_006723743;XM_006723744;XM_006723745;XM_006723746 AAC28898;AAF04487;AAI03754;AAI05019;BAD96635;BAF83743;BAF83768;BAG61653;EAW76287;EAW76288;EAW76289;EAW76290;EAW76291;NP_031393;NP_057951;Q9UKM9;XP_005260391;XP_005260393;XP_006723805;XP_006723806;XP_006723807;XP_006723808;XP_006723809 Hs.136947 1678057;1682293;1693360;2118379;2119162;2134325;2157846;5494165 A005P05;AL034538;D20S534E;D20S811;RH27241;RH65377;SGC31581;fb76e04.y1 HNRPCL2;MGC117312;P542 OTTHUMP00000030673;OTTHUMP00000030674;OTTHUMP00000030678;RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog);RNA-binding protein (autoantigenic);RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow);RNA-binding protein Raly;autoantigen p542;heterogeneous nuclear ribonucleoprotein C-like 2;hnRNP associated with lethal yellow protein homolog;hnRNP core protein C-like 2 APPROVED protein-coding HGNC:15921 11480 614663 REVIEWED 735949 RAMP1 receptor (G protein-coupled) activity modifying protein 1 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. [provided by RefSeq, Jul 2008] 2 2 2 q36-q37.1 232481221 232533800 + 238768187 238820756 + 237859544 237912114 + 1580863;6480464 10354609;10385705;10882736;11060459;11535606;11693189;11733510;11754963;11847213;11937264;11973435;12036966;12093471;12234182;12419522;12446722;12477932;12565884;12574158;12684503;14722252;15245870;15300632;15489334;15613468;16912219;17310067;17493758;17785463;18039931;18198792;18240029;18240900;18593822;18725456;19710695;20100989;20188075;20933260;22208649;22484227;22949393;23237777;23251661;23867798;24454825;9620797 10267 E9PC20;O60894 ABBA01042597;ABBA01042598;ABBA01042599;AC012076;AC016776;AI017108;AJ001014;AMYH02006068;AY265457;BC000548;BM126103;CH471063;CR542032;CR542044;KF510799;NM_005855 AAH00548;AAP23298;AAY14674;AAY24219;ABM82831;ABM86017;CAA04472;CAG46829;CAG46841;EAW71127;NP_005846;O60894 Hs.471783 1652757;2106581 RAMP1__3761;WI-15143 CRLR activity-modifying protein 1;OTTHUMP00000164475;calcitonin receptor-like receptor activity modifying protein 1;calcitonin-receptor-like receptor activity-modifying protein 1;receptor (calcitonin) activity modifying protein 1;receptor activity modifying protein 1;receptor activity-modifying protein 1 APPROVED protein-coding ENSG00000132329 HGNC:9843 05515 605153 REVIEWED 735315 RAMP2 receptor (G protein-coupled) activity modifying protein 2 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008] 17 17 17 q12-q21.1 37569491 37571338 + 40913145 40915063 + 42761194 42763041 + 1580863;61729;704370;1642684;1642701;1642678;1625300;1642679;1642682;1625307;1642683;1625319;1642686;6480464 10733909;11600589;12623952;14717924;15680493;15797661;16450076;16713642;16987513;17068622;17335899;17437045 10217420;10354609;10767413;10882736;11060459;11387328;11591721;11754963;11973435;12036966;12093471;12419522;12446722;12477932;12565884;14722252;15245870;15300632;15489334;15613468;16410241;16531504;16912219;16964401;17671114;18097473;18240029;18577758;18593822;18835256;19210874;19913121;20074556;20628086;22102369;24169318;24199627;9620797 10266 K7EKQ3;K7ENJ8;K7EPN3;O60895 ABBA01006409;AC100793;AJ001015;AL548945;AMYH02033436;AY265458;BC027975;CH471152;EF687002;NM_005854 AAH27975;AAP23299;ABM84247;ABM87635;ABS28868;CAA04473;EAW60877;EAW60878;NP_005845;O60895 Hs.514193 1664353;2217896 RAMP2_3760;STS-N93656 CRLR activity-modifying protein 2;calcitonin receptor-like receptor activity modifying protein 2;calcitonin-receptor-like receptor activity-modifying protein 2;receptor (calcitonin) activity modifying protein 2;receptor activity modifying protein 2;receptor activity-modifying protein 2;receptor-activity-modifying protein 2 APPROVED protein-coding ENSG00000131477 HGNC:9844 05516 605154 REVIEWED 6893212 RAMP2-AS1 RAMP2 antisense RNA 1 17 17 17 q21.31 37562210 37569554 - 40905932 40913275 - 42753914 42761257 - 12477932;14702039;21139048 100190938 ABBA01006409;AC100793;AK057121;AMYH02033436;BC001607;BC018638;BC033118;BC034924;BC041021;HG509056;HG509057;HG509058;HG509059;NR_024461;NR_024462 AAH01607;AAH18638;AAH33118;AAH34924 Hs.655265 1335294;1664353;5015861;5015961;5022200;5022450;5022651;5037552;7185938;7187470 D10S16;D10S275;D11S2921;D15S1477;D7S511;D8S2279;L18426;STS-N93656 ncrna ENSG00000197291 HGNC:44358 VALIDATED 1606457 RALYL RALY RNA binding protein-like ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH methylmercury chloride; valproic acid (ortholog) 8 8 8 q21.2 81099135 81838471 + 85095453 85834079 + 84183218 84921844 + 6480464;8554872 12477932;12688537;14702039;16189514;16344560;17207965;19001729;19447967;21110914;21890473;21906983;21942715;22178446;22505724;23000965;8619474;9110174 138046 B3KSX3;B3KT61;E5RG71;E5RIX9;E5RJ39;Q86SE5 ABBA01004019;ABBA01004020;ABBA01004021;ABBA01004022;ABBA01004023;ABBA01004024;ABBA01004025;AC009901;AC012400;AC027043;AC087368;AC092699;AC092709;AC103816;AC247053;AF070623;AF495529;AF495530;AK094543;AK095026;AK095560;AK123437;AMYH02018336;AMYH02018337;AMYH02018338;AMYH02018339;AMYH02018340;AMYH02018341;AMYH02018342;AMYH02018343;AMYH02018344;BC031090;CH471068;DA143105;DN989439;KF458796;NM_001100391;NM_001100392;NM_001100393;NM_001287243;NM_001287244;NM_173848;XM_005251169;XM_006716421;XM_006716422;XM_006716423;XM_006716424;XM_006716425;XM_006716426 AAH31090;AAO85516;AAO85517;ADQ31634;BAC85617;BAG52885;BAG52973;BAG53084;EAW87116;EAW87117;EAW87118;NP_001093861;NP_001093862;NP_001093863;NP_001274172;NP_001274173;NP_776247;Q86SE5;XP_005251226;XP_006716484;XP_006716485;XP_006716486;XP_006716487;XP_006716488;XP_006716489 Hs.121663 1644619;1673094;1695154;1701500;1706154;1708028;1708758;1708898;1716851;1718071;1724269;1731987;1739783;1748609;1751491;1755327;1772018;1786558;1786866;2110903;2111328;2115906;2138659;2156423;2156604;2163095;2168003;2183901 A007D23;D8S1143;D8S1174;D8S1339E;D8S1678E;D8S340E;D8S461;D8S582;G48217;RH104383;RH11959;RH121277;RH121719;RH122653;RH77923;RH78035;SHGC-105292;SHGC-110272;SHGC-112019;SHGC-142212;SHGC-34573;SHGC-36934;SHGC-70136;SHGC-79499;SHGC-80120;SHGC-81374;SHGC-81608;WI-21455 HNRPCL3 OTTHUMP00000227058;OTTHUMP00000227059;OTTHUMP00000227060;OTTHUMP00000227063;OTTHUMP00000227064;OTTHUMP00000227704;RNA-binding Raly-like protein;hRALYL;heterogeneous nuclear ribonucleoprotein C-like 3;hnRNP core protein C-like 3 protein-coding ENSG00000184672 HGNC:27036 11236 614648 VALIDATED 737378 RAMP3 receptor (G protein-coupled) activity modifying protein 3 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008] 7 7 7 p13-p12 45296201 45322683 + 45197367 45223849 + 45157768 45184250 + 1580863;6480464;8554872 10354609;10385705;10882736;11060459;11387328;11591721;11693189;11973435;12036966;12093471;12419522;12446722;12477932;12565884;12690205;12853948;12939163;14615490;14702039;14722252;15300632;15342556;15489334;15613468;15805108;16169070;16410241;16912219;17207965;18240029;18577758;18593822;18835256;19886671;19913121;20034525;20628086;20802105;22445753;24169318;24199627;8125298;9620797 10268 A4D2L1;J3KR56;O60896 ABBA01058248;ABBA01058249;AC004844;AC013416;AJ001016;AK128765;AK222469;AK311871;AMYH02015637;AY265459;BC022304;BC053852;BP347072;CH236960;CH471128;NM_005856;XM_006715631;XM_006715632 AAH22304;AAH53852;AAP23300;ABM82297;ADQ33063;BAD96189;BAG34812;CAA04474;EAL23743;EAW61048;EAW61049;EAW61050;NP_005847;O60896;XP_006715694;XP_006715695 Hs.25691 2147898 RH36315 CRLR activity-modifying protein 3;OTTHUMP00000159549;OTTHUMP00000214279;OTTHUMP00000214280;calcitonin receptor-like receptor activity modifying protein 3;calcitonin-receptor-like receptor activity-modifying protein 3;receptor (calcitonin) activity modifying protein 3;receptor activity modifying protein 3;receptor activity-modifying protein 3;receptor-activity-modifying protein 3 APPROVED protein-coding ENSG00000122679 HGNC:9845 05517 605155 REVIEWED 1352244 RANBP20P RAN binding protein 20 pseudogene 14 14 14 q11.2 1049844 1052180 - 21188964 21191300 - 20720805 20723141 - 326627 ABBA01061235;AL163636;AMYH02028826;NG_002609 1745981 RH125206 pseudo HGNC:19734 INFERRED 1343804 RANBP10 RAN binding protein 10 ENCODES a protein that exhibits beta-tubulin binding (inferred); Ran GTPase binding (inferred); Ran guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN microtubule cytoskeleton organization (inferred); positive regulation of Ran GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic microtubule (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; aflatoxin B1; cobalt dichloride 16 16 16 q22.1 52265494 52348990 - 67756973 67840788 - 67723070 67806652 - 6480464;8554872 10819331;12147692;12421765;12477932;14684163;14702039;16498413;18347012;19953087;20395553;21906983;22505724;22797925;22939629;23022380;23667531;24654937;24816145 57610 B3KP49;B4DHL9;Q6VN20;R4GMX7;R4GMX8;R4GN91;R4GNA3 AB040897;ABBA01025455;ABBA01025456;ABBA01025457;AC010530;AC040162;AK000686;AK055634;AK055727;AK295171;AK295530;AK298806;AK304030;AL137299;AMYH02032240;AMYH02032241;AMYH02032242;AMYH02032243;AY337313;BC099917;BC121176;BC121177;CH471092;NM_020850;XM_005256070;XM_005256072;XM_006721238;XM_006721239 AAH99917;AAI21177;AAI21178;AAR01220;BAA95988;BAG51561;BAG58181;BAG58442;BAG60941;BAG64944;EAW83167;EAW83168;NP_065901;Q6VN20;XP_005256127;XP_005256129;XP_006721301;XP_006721302 Hs.368569 1663745;1663747;1670966;1736612;2115138;2154371 A005P46;D16S2603E;G20405;SHGC-60652;SHGC-61152;SHGC-61185 FLJ31165;KIAA1464 ran-binding protein 10 protein-coding ENSG00000141084 HGNC:29285 15207 614031 PROVISIONAL 1323046 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; benzo[a]pyrene diol epoxide I 1 1 1 q25.2 151803392 151998084 + 178694300 178890975 + 178725147 178921842 + 1580863;6480464;8554872 10747847;12102558;12477932;12485849;14702039;15324660;15778465;17353931;21139048;21906983;23000965;24255178 55103 H0Y338;H7C2H2;Q86X27 ABBA01027826;ABBA01027827;ABBA01027828;AK001106;AK098470;AK301753;AL162255;AL355520;AL449106;AMYH02002222;AMYH02002223;AMYH02002224;AX405911;BC045691;BC047391;CH471067;CK902157;JA738811;NM_001286247;NM_152663;XM_006711409;XM_006711410;XM_006711411 AAH47391;BAA91506;BAC05311;BAH13547;CAD35018;CCF77058;EAW91027;EAW91028;EAW91029;EAW91030;NP_001273176;NP_689876;Q86X27;XP_006711472;XP_006711473;XP_006711474 Hs.632485;Hs.657592 1648867;1692108;1696276;1699170;1718251;1762313;1774355;1797278;2156716;2168957;2172696;2178913;2185095;5109281 AL033694;ANGPTL1_2107;D1S1425;D1S2573;G16228;G34879;RH103165;RH122895;SHGC-146160;SHGC-57465;SHGC-75956;SHGC-75968;SHGC-75984;SHGC-83672 FLJ10244;FLJ25604;KIAA0351;dJ595C2.1 OTTHUMP00000033050;OTTHUMP00000038515;Ral-A exchange factor RalGPS2;ral GEF with PH domain and SH3-binding motif 2;ralA exchange factor RalGPS2;ras-specific guanine nucleotide-releasing factor RalGPS2 protein-coding ENSG00000116191 HGNC:30279 15206 VALIDATED 1602423 RANBP3L RAN binding protein 3-like INVOLVED IN intracellular transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene (ortholog); bis(2-ethylhexyl) phthalate (ortholog) 5 5 5 p13.2 36134779 36187682 - 36247950 36302011 - 36247848 36301909 - 6480464;8554872 12477932;23151678 202151 D6RCM9;Q86VV4 ABBA01024167;ABBA01024168;AC008807;AC114277;AK058151;AK302947;AMYH02011163;BC017951;BC047660;CH471119;KC876975;NM_001161429;NM_145000;XM_006714452;XM_006714453;XM_006714454;XM_006714455 AAH47660;BAB71689;BAH13852;EAW55942;EAW55943;EAW55944;NP_001154901;NP_659437;Q86VV4;XP_006714515;XP_006714516;XP_006714517;XP_006714518 Hs.729817 1335064;1660403;1755535;1765597;1781098;2173701;7186221;7186224;7186229 AFM303TH5;AFM303th5;D5S1750;D5S2085;G20937;SHGC-142390;SHGC-149050 FLJ25422 OTTHUMP00000161738;OTTHUMP00000221399;OTTHUMP00000221400;ran-binding protein 3-like protein-coding ENSG00000164188 HGNC:26353 08064 VALIDATED 1313031 RANBP6 RAN binding protein 6 INVOLVED IN protein transport (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 1-nitropyrene; 2,3,7,8-tetrachlorodibenzodioxine; arsane 9 9 9 p24.1 5948531 5953152 - 6011019 6015640 - 6011019 6015640 - 1580863;6480464 12477932;14702039;15164053;15231748;15489334;16344560;19471022;21139048;21890473;22190034;22505724;22863883;23000965;23402259;23817569;24388013 26953 B4DTX6;O60518 ABBA01065404;AF039023;AI568841;AK001982;AK300408;AL162384;AMYH02019089;BC012805;BC019838;BC037423;BC098406;BX537405;CH471071;DA116213;DA155272;DA234653;DC334669;DC342914;NM_001243202;NM_001243203;NM_012416 AAC14260;AAH12805;AAH98406;BAG62138;CAD97647;EAW58753;NP_001230131;NP_001230132;NP_036548;O60518 Hs.167496;Hs.732683 2134167;2164181;2164331;5114198 D9S1049E;SHGC-36689;T03720;WIAF-1640 FLJ54311 OTTHUMP00000021039;Ran-GTP binding protein;ran-binding protein 6 protein-coding ENSG00000137040 HGNC:9851 17953 VALIDATED 1344686 RANBP9 RAN binding protein 9 This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008] 6 6 6 p23 14861225 14951269 - 13621730 13711796 - 13621498 13711564 - 6480464;8554872 10471364;11470507;12082530;12084015;12147692;12220523;12226704;12361945;12421467;12470648;12477932;12559565;12684061;12800254;12812986;12917623;14500717;14511641;14574404;14648869;14722085;15014887;15231748;15381419;15489334;15558019;15604093;15606899;15964779;16000162;16196087;16364241;16478441;16595702;17087506;17148452;17353931;17467196;17620599;18040864;18298663;18455188;18555800;18710924;18801335;19251705;19615732;19729516;19790105;19996306;20016921;20085707;20395553;20403074;20829363;20936779;21139048;21382349;21805090;21890473;21900206;21906983;21987572;21988832;22223749;22321011;22505724;22779921;22863883;22939629;22952844;22990118;23022380;23080069;23535729;23667531;23926111;23928309;24103590;24654937;24778252;24795145;9817760 10048 Q96S59 AB008515;AB055311;ABBA01022128;ABBA01022129;AF064606;AF306510;AK313334;AL441883;AMYH02013135;AMYH02013136;AMYH02013137;AMYH02013138;BC019886;BC052781;BC053374;BC063849;CH471087;NM_005493;XM_006714945;Z93020 AAC17111;AAH19886;AAH52781;AAH63849;AAK15469;BAA23216;BAB62525;BAG36138;EAW55341;EAW55342;EAW55343;EAW55344;EAW55345;NP_005484;Q96S59;XP_006715008 Hs.708182 1697812;1752979;1849713;2129105;2135531;2182603;2184525;7186405 AL020967;D6S1430;D6S1861;L17993;RH102430;SGC35035;SHGC-106866 BPM-L;BPM90;RANBPM;RanBP7 OTTHUMP00000017269;Ran Binding Protein in the Microtubule organizing center;novel centrosomal protein RanBPM;ran binding protein, centrosomal;ran-binding protein 9;ran-binding protein M APPROVED protein-coding ENSG00000010017 HGNC:13727 04835 603854 REVIEWED 1602892 RANGRF RAN guanine nucleotide release factor This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 17 17 17 p13.1 8220823 8222263 + 8191745 8193409 + 8288427 8290092 + 6480464;6771380 8557821 10811801;11042152;11290418;11733047;12477932;15146197;18184654;20301690;21447824;21621375;21890473;22505724;22939629 29098 Q9HD47 AA659738;ABBA01054908;AC135178;AF151070;AF161514;AF168714;AF265205;AF265206;AK290399;AMYH02032923;BC006486;BC012552;BC100017;CH471108;CN396019;CR457206;CR749387;NG_028189;NM_001177801;NM_001177802;NM_016492;XM_005256618 AAF29129;AAF36156;AAF87316;AAG01291;AAG01292;AAH06486;AAH12552;AAI00018;BAF83088;CAG33487;CAH18237;EAW90064;EAW90065;EAW90066;NP_001171272;NP_001171273;NP_057576;Q9HD47;XP_005256675 Hs.408233 1652138;1652140;1855233 A006E21;G20744;RH46164 DKFZp686F02139;HSPC165;HSPC236;MGC110973;MOG1;RANGNRF MOG1 homolog;ran-binding protein MOG1 APPROVED protein-coding ENSG00000108961 HGNC:17679 06407 607954 REVIEWED 1345238 RANBP17 RAN binding protein 17 The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002] 5 5 5 q34 166321110 166759577 + 170288880 170727454 + 170861892 171300015 + 1580863;6480464;8554872 11024021;11071879;12477932;14702039;18854154;19913121;20503194;20628086;21906983;21963094;22589738;22939629 64901 E5RHX1;H0YAS2;H0YBM6;H0YBY7;Q546R4;Q8IVM9;Q9H2T7 ABBA01044084;ABBA01044085;ABBA01044086;ABBA01044087;ABBA01044088;AC008514;AC010306;AC016574;AC018753;AC021077;AC091980;AF222747;AJ271459;AJ288952;AJ288953;AJ288954;AJ288955;AK027880;AK057478;AK298785;AK315159;AL832980;AMYH02012726;AMYH02012727;AMYH02012728;AMYH02012729;AMYH02012730;AMYH02012731;BC030953;CH471062;DC365649;KC877158;KF458050;NM_022897 AAG44255;AAI48560;BAB55427;BAB71504;BAG60924;CAC81055;CAC81806;CAC81807;CAC81808;CAC81809;CAH56326;EAW61454;EAW61455;EAW61456;EAW61457;EAW61458;EAW61459;EAW61460;EAW61461;EAW61462;EAW61463;EAW61464;NP_075048;Q9H2T7 Hs.410810 1337231;1647904;1780524;1780526;1780788;1785384;1849616;1849618;1850510;2142296;2155073;2175377;5093910;7190283;7190285 A005L27;A009Y40;D5S1910;D5S2399;D5S653;G20312;G32995;RH35915;SHGC-141902;WI-11325;bac51036S;bac51036T;bac52067T FLJ32916 OTTHUMP00000223302;ran-binding protein 17 APPROVED protein-coding ENSG00000204764 HGNC:14428 05847 606141 VALIDATED 1321469 RANBP1 RAN binding protein 1 This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 22 q11.21 3957074 3966754 + 20103461 20114880 + 20115938 20127357 + 1580863;6480464 10037787;10318915;10330396;10454574;10471274;10473610;10601307;10779340;10811801;10995230;11278834;11310559;11804793;11832950;12393906;12477932;12606574;12649209;12840069;12852855;14585972;14702039;15459234;15461802;16041368;16130169;16428860;17110338;17353931;17940066;18160415;18187620;19149558;19270727;19322201;19549784;19738201;20360068;20508983;20658144;20805321;21139048;21184585;21813642;21890473;21906983;21998203;22053931;22190034;22505724;22797925;22833565;22863883;22939629;23000965;23108393;23956138;24250222;24583282;24654937;24816145;7603572;7616957;7882974;7891706;8125298;8255297;8909533;9045717;9111043;9271386;9315840;9428644 5902 B3KUP2;B4DE76;C9JDM3;C9JGV6;C9JIC6;C9JJ34;C9JXG8;D3DX26;F8WCY3;P43487 ABBA01005394;AC006547;AK094410;AK097659;AK223506;AK293502;AK300927;AMYH02038056;AW404614;BC071998;BG717186;BI916757;CA489474;CH471176;CR456556;D38076;DB459798;DC397929;HY229989;NM_001278639;NM_001278640;NM_001278641;NM_002882;X83617;XM_006724287;XM_006724288 AAI52786;BAA07269;BAD97226;BAG53504;BAG56987;BAH13377;CAA58592;CAG30442;CAK54587;CAK54886;EAX02986;EAX02987;EAX02988;EAX02989;EAX02990;EAX02991;EAX02992;EAX02993;EAX02994;NP_001265568;NP_001265569;NP_001265570;NP_002873;P43487;XP_006724350;XP_006724351 Hs.24763 1668654;1674009;1688406;2124361;2185842 G20657;RH17118;RH77824;SGC31575;WI-19818 HTF9A;MGC88701 HpaII tiny fragments locus 9A;OTTHUMP00000197515;OTTHUMP00000197594;OTTHUMP00000198444;OTTHUMP00000198445;OTTHUMP00000209649;ran-binding protein 1;ran-specific GTPase-activating protein APPROVED protein-coding ENSG00000099901 HGNC:9847 03110 601180 REVIEWED 1346292 RANP1 RAN, member RAS oncogene family pseudogene 1 6 6 6 p21.33 32051791 32052853 + 30453662 30454724 + 30485885 30486947 + 10557312;16702430;20237496;21906983;21963094 221547 Q96QB7 AB014080;AB088093;AB103599;ABBA01038046;AL662822;AL662873;AL844213;AMYH02013433;BA000025;BX927143;BX936369;CR762481;NG_002749 BAB63329;BAC54924;BAF31259 2220166 D6S2786 Ras-like;TC4 pseudo HGNC:21631 INFERRED 6481148 RANP2 RAN, member RAS oncogene family pseudogene 2 7 7 146864432 146864668 + 147167340 147167576 + 100874191 ABBA01033580;AC092676;AMYH02017007;NG_032363 pseudo HGNC:39857 INFERRED 1313698 RANBP3 RAN binding protein 3 This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5855112 5917277 - 5916150 5978320 - 5916139 5978309 - 6480464;6484113 11256614;11425870;11571268;11932251;12176322;12477932;14612415;14702039;15057824;15174051;15489334;16341674;17081983;17353931;18029348;18280241;19289081;19322201;19471022;21139048;21364925;21890473;22863883;22939629;23303829;24250222;24816145;8125298;8889548;9637251 8498 B7Z7F3;K7EID7;K7EIJ4;K7EJ17;K7EJV3;K7EMH9;K7EMT3;K7EN31;K7ENB9;K7ENJ2;K7EPW1;K7EQB8;K7ERD4;K7ESQ0;Q53GE1;Q9H6Z4 ABBA01055983;AC004602;AC005784;AC093050;AK025300;AK125183;AK222813;AK222990;AK299260;AK299856;AK301942;AK308205;AK314343;AL050149;AMYH02035342;AMYH02035343;AMYH02035344;BC004349;BM786367;CB306615;CH471139;DQ234346;NM_001300865;NM_003624;NM_007320;NM_007322;XM_005259664;XM_006722928;XM_006722929;Y08697;Y08698;Y08699 AAC14485;AAH04349;ABB29975;BAB15106;BAD96710;BAG36985;BAH12980;BAH13150;BAH13589;CAA69956;CAA69957;CAA69958;CAB43293;EAW69120;EAW69121;EAW69122;EAW69123;EAW69124;NP_001287794;NP_003615;NP_015559;NP_015561;Q9H6Z4;XP_005259721;XP_006722991;XP_006722992 Hs.531752 1703210;1705800;1739435;2191123 D19S821E;MARC_14882-14883:1010078880:1;SGC31821;SHGC-78983 DKFZp586I1520 RAN-binding protein-3;ran-binding protein 3 APPROVED protein-coding ENSG00000031823 HGNC:9850 04508 603327 REVIEWED 6481184 RANP3 RAN, member RAS oncogene family pseudogene 3 11 11 74363683 74363961 + 74652638 74652916 + 100874227 ABBA01017481;AP001324;NG_032364 pseudo HGNC:39858 INFERRED 5130798 RANP4 RAN, member RAS oncogene family pseudogene 4 X X X q26.3 136253069 136253732 - 135889385 135890048 - 136807226 136807889 - 100130621 ABBA01055946;AL683813;AMYH02040581;NG_022642 pseudo HGNC:39859 INFERRED 5130796 RANP8 RAN, member RAS oncogene family pseudogene 8 13 13 13 2383186 2384136 - 21321246 21322196 - 20747107 20748057 - 100420519 ABBA01068592;AL512652;AMYH02027643;NG_024835 pseudo HGNC:39863 INFERRED 6481158 RANP9 RAN, member RAS oncogene family pseudogene 9 8 8 32897041 32897311 + 33039523 33039793 + 100874193 ABBA01023618;AC090204;AMYH02017760;NG_032366 pseudo HGNC:39864 INFERRED 6481145 RANP7 RAN, member RAS oncogene family pseudogene 7 3 3 22946143 22946631 + 22904652 22905140 + 100874192 ABBA01025052;AC114477;AMYH02006395;NG_032365 pseudo HGNC:39862 INFERRED 1348006 RAN RAN, member RAS oncogene family RAN (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The RAN protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of RAN requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in RAN disrupt DNA synthesis. Because of its many functions, it is likely that RAN interacts with several other proteins. RAN regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. RAN could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of RAN-GTP around chromatin which, in turn, induces the local nucleation of microtubules. RAN is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy's disease (X-linked spinal and bulbar muscular atrophy). RAN coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy's disease. [provided by RefSeq, Jul 2008] 12 12 12 q24.3 130970022 130974231 + 131356617 131362220 + 130872072 130877656 + 4144860;6480464;6484113;6907045 19965479 10022920;10037787;10078529;10202161;10209022;10228171;10318915;10353245;10367892;10369786;10394366;10397761;10400640;10408446;10508170;10518602;10567585;10679025;10779340;10786834;10811801;10827954;10944119;11024021;11032817;11042152;11290418;11310559;11336674;11420673;11425870;11447110;11470507;11571268;11774384;11777942;11779226;11782423;11809816;11832950;11932251;12051861;12070164;12101123;12134013;12138183;12176322;12194828;12211070;12384575;12415012;12453419;12477932;12649209;12773398;14500717;14585972;14592989;14600264;14612415;14675621;14684163;14758368;15014043;15014887;15383276;15489334;15522285;15545318;15572661;15574331;15574332;15576338;15592455;15632149;15635413;15691838;15761153;16009940;1602151;16169070;16196087;16294017;16368437;16428596;16428860;16449645;16572176;16572426;16807353;16930555;17081065;17110338;17158748;17426026;17671426;17761537;17828378;18003734;18205094;18241036;18266911;18268099;18287525;18347012;18508616;1855255;18565325;18591255;18617507;18690538;18708071;18781797;18845677;19047128;19056867;19060893;19135240;19138993;19149559;19208764;19322201;19389996;19435463;19454010;19505873;19549784;19559616;19596235;1961752;19738201;19753112;19765287;19805454;19851984;19946888;20028979;20081840;20360068;20547757;20565941;20585341;20639865;20658144;20721975;20732906;20805321;20819778;20828572;20942967;20951941;20972266;21033436;21081666;2108320;21139048;21139563;21195711;21319273;21320693;21358275;21364925;21625522;21630149;21670151;21692748;21813642;21853274;21890473;21906983;21907836;21909257;21963094;21988832;21998203;22053931;22081094;22090358;22114719;22145905;22174317;22178446;22266855;22355797;22360420;22505724;22623428;22679017;22783232;22863883;22939629;22956174;23000965;23084401;23097435;23118896;23125841;23160023;23308199;23311631;23398456;23444224;23455922;23468463;23536659;23711384;23783028;23798571;23868705;23878195;24001611;24076388;24250222;24337577;24457600;24530126;24561123;24583282;24654937;24816145;25015289;25027693;7603572;7615630;7627554;7744835;7878053;7882974;7885480;7891706;7988569;8146159;8421051;8576188;8643389;8692944;8757804;8896452;8896453;8909533;9045717;9102465;9111043;9114010;9135132;9214382;9219684;9315840;9323133;9323134;9368653;9405152;9428644;9533885;9562972;9637251;9660920;9802899;9817760;9822603;9837918 5901 AAB24940;B4DV51;B5MDF5;F5H018;H0YFC6;J3KQE5;P62826 AB062399;ABBA01019824;AC073912;AF052578;AF054183;AF501887;AK300934;AK312466;AK316193;AL357616;AMYH02027559;BC000852;BC004272;BC014518;BC014901;BC016654;BC022813;BC051908;BC072000;BT007271;CH471054;CR450347;HY139187;HY336901;M31469;NM_001300796;NM_001300797;NM_006325;XM_005253592 AAA36546;AAB24940;AAC05840;AAC99400;AAH04272;AAH14518;AAH14901;AAH16654;AAH51908;AAH72000;AAM15923;AAP35935;ABM83284;ABM86491;BAB93486;BAG35373;BAG62563;BAH14564;CAG29343;EAW98515;EAW98516;EAW98517;NP_001287725;NP_001287726;NP_006316;P62826;XP_005253649 Hs.10842 1651105;2171049;5106959;5117162 GDB:451538;RH44340;STS-M31469;WI-16177 ARA24;Gsp1;TC4 GTP-binding nuclear protein Ran;GTPase Ran;OK/SW-cl.81;OTTHUMP00000166077;OTTHUMP00000166078;OTTHUMP00000166102;OTTHUMP00000166103;OTTHUMP00000238588;RanGTPase;androgen receptor-associated protein 24;guanosine triphosphatase Ran;member RAS oncogene family;ras-like protein TC4;ras-related nuclear protein APPROVED protein-coding HGNC:9846 03109 601179 VALIDATED 5130801 RANP6 RAN, member RAS oncogene family pseudogene 6 4 4 4 q34.1 171879641 171880293 - 174554882 174555534 - 173633731 173634383 - 23958962 100128266 ABBA01070380;AC079789;AMYH02010523;NG_022039 1651105 STS-M31469 pseudo HGNC:39861 INFERRED 8548120 RAP1BP1 RAP1B, member of RAS oncogene family pseudogene 1 9 9 18718109 18718525 - 18718111 18718527 - 100506390 ABBA01065223;AL353895;AMYH02019251;NG_030297 pseudo HGNC:49780 INFERRED 1352228 RAP1A RAP1A, member of RAS oncogene family This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 1 1 1 p13.3 110480558 110502712 + 112162405 112256807 + 111619783 111713479 + 6480464;6484113;6907045 10085114;10224125;10454553;10608844;10608883;10777492;10777494;10922060;10926822;10934204;11022048;11335720;11359771;11429608;11466412;11524421;11786539;11788600;11880369;11948427;11980706;12082090;12091396;12147258;12221082;12393469;12393539;12444546;12464615;12477932;12581858;12590145;12842888;12845325;12874025;12891710;1312373;13679863;14551137;14576067;14607972;14702343;14757755;15031288;15031297;15064832;15207703;15254236;15302884;15374886;15469846;15479739;15489334;15569673;15591041;15601837;15613546;15657046;15661741;15677455;15711749;15725075;15854902;15856025;15894621;16005629;16118622;16219685;16284401;16540189;16581250;16710414;16716258;16751380;16820412;16888288;16963453;17068197;17215244;17300802;17382517;17487743;17517894;17540176;17702895;17716979;17916086;17954608;18172027;18235501;18390735;18487435;18625726;18789886;18805968;18809728;18832707;18948674;1899909;19001122;19098287;19176753;19322201;19464664;19638416;19710505;19763083;20048162;20339002;20547757;20548944;20665668;20709748;2108841;21139048;21169361;21454546;21468893;21520057;2158984;21605078;2164710;21716322;21750123;21890473;21906983;21963094;21987572;21988832;22053931;22343288;22347375;22577140;22684501;22723956;22738401;22810897;22859270;22899717;22936677;22939629;23097489;23166790;23209302;23209645;23219753;23243278;23405264;23469100;23720748;23814056;23864608;23946483;24583282;24586238;24790104;24816145;2507536;2642744;3045729;3141412;3143720;3144274;7791872;7862125;8449039;8631894;8756332;9069267;9115221;9285558;9523700;9560161;9867809;9882515 5906 A8KAH9;P62834 A08691;AB051846;AB451235;AB451360;ABBA01068399;AF493912;AK094737;AK293044;AL049557;AL139012;AMYH02001727;AMYH02001728;BC014086;BG743233;BI460853;BQ220294;BT019666;BU150941;BU167449;BU189979;BX473371;CA446565;CD108761;CH471122;DA102623;DB312010;M22995;NM_001010935;NM_001291896;NM_002884;X12533;XM_006710803;XR_246288 AAA36150;AAH14086;AAM12626;AAV38472;ACE86473;ACE87154;BAB61868;BAF85733;BAG70049;BAG70174;CAA00804;CAA31051;EAW56503;NP_001010935;NP_001278825;NP_002875;P62834;XP_006710866 Hs.190334;Hs.586618 1659994;1740801;1852263 AL010000;D1S3458;SHGC-141 C21KG;G-22K;KREV-1;KREV1;RAP1;SMGP21 GTP-binding protein smg p21A;OTTHUMP00000013740;OTTHUMP00000013741;OTTHUMP00000013742;RAS-related protein RAP1A;Ras-related protein Krev-1;ras-related protein Rap-1A APPROVED protein-coding HGNC:9855 01545 179520 REVIEWED 5130799 RANP5 RAN, member RAS oncogene family pseudogene 5 1 1 1 p13.3 107859592 107860258 + 109589436 109590102 + 109046814 109047480 + 100129428 ABBA01068363;AMYH02001703;BX679664;NG_022798 pseudo HGNC:39860 INFERRED 1353984 RAP1AP RAP1A, member of RAS oncogene family pseudogene 14 14 14 q24.3 54987937 54989256 + 74949550 74950869 + 74482847 74484166 + 8449039 5907 ABBA01030717;AC005479;AMYH02029519;NG_004799;NG_007117 2139216 G38283 KREV1P;SMGP21A pseudo HGNC:9856 INFERRED 8548232 RAP1BP2 RAP1B, member of RAS oncogene family pseudogene 2 3 3 3 q13.11 102121155 102180262 + 103781738 103783931 + 104062894 104065087 + 100128179 ABBA01061747;AC016970;AMYH02007352;NG_030384 pseudo HGNC:49781 INFERRED 8547999 RAP1BP3 RAP1B, member of RAS oncogene family pseudogene 3 6 6 6 q22.1 118495652 118496079 + 117752754 117753216 + 117431591 117432053 + 100132917 ABBA01026040;AL132671;AMYH02014360;NG_030190 pseudo HGNC:49782 INFERRED 1351414 RANBP2 RAN binding protein 2 RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q. [provided by RefSeq, Jul 2008] 2 2 2 q12.3 103645916 103712243 + 109335902 109402267 + 108719446 108785811 + 1580863;6480464;7240710;8699517;8554872 10078529;10318915;10473610;10601273;10601307;10668806;11266456;11353387;11470507;11553612;11709548;11792325;11839768;11854305;12032081;12138183;12191015;12192048;12228227;12393906;12874403;12894213;12963708;14755735;15037602;15144186;15161980;15174051;15302935;15378033;15388847;15608651;15632063;15815621;15826666;15840729;15931224;16196087;16314397;16314522;16332688;16524884;16565220;16586133;16620772;16688858;16964243;17069463;17081983;17098863;17168522;17264123;17314511;17353931;17887960;17911097;18080148;18187620;18239623;18305100;18394993;18691615;18854154;18946085;19118815;19171422;19299463;19305391;19454010;19471022;19596686;19654215;19807769;19811512;19828735;19946888;20085707;20360068;20473521;20547757;20936779;21139048;21145461;21179483;21256132;21518904;21568279;21670213;21693764;21859863;21890473;21906983;21963094;21988832;21995724;22053931;22110128;22155184;22174692;22178446;22190034;22194619;22262462;22412018;22464730;22505724;22586326;22678362;22939629;22956906;23000965;23087682;23159618;23353830;23602568;23630457;23798571;23818861;23824909;23862649;23883001;23902822;24034896;24051001;24113188;24211586;24457600;24586169;24613277;24639526;24654937;24816145;25027693;7559465;7603572;7724562;7775481;7882974;8857542;8909533;9019411;9037092;9114010;9144189;9244446;9398662;9456312;9480752;9733766 5903 F8WBP7;P49792 AA971491;AB209483;ABBA01000761;ABBA01000762;ABBA01000763;ABBA01000764;AC010095;AK025462;AK025711;AK026993;AMYH02004511;AMYH02004512;AY170822;D42063;DB525378;L41840;NG_012210;NM_006267;U19240;U19248;XM_005264002;XM_005264003;XM_005264004;XM_005264005;XM_005264006;XM_005264007 AAA85837;AAA85838;AAC41758;AAO13594;AAY14984;BAA07662;BAD92720;NP_006258;P49792;XP_005264059;XP_005264060;XP_005264061;XP_005264062;XP_005264063;XP_005264064 Hs.199561;Hs.715056 1645387;1673898;1683016;1857034;2120951;2182022;5016895 RH16188;RH18435;RH67924;RH78999;RH79061;RH98799;SHGC-36406 ANE1;IIAE3;NUP358;P270;TRP1;TRP2 358 kDa nucleoporin;ADANE;E3 SUMO-protein ligase RanBP2;OTTHUMP00000161606;OTTHUMP00000203472;acute necrotizing encephalopathy 1 (autosomal dominant);nuclear pore complex protein Nup358;nucleoporin 358;nucleoporin Nup358;ran-binding protein 2;transformation-related protein 2 APPROVED protein-coding ENSG00000153201 HGNC:9848 03111 601181;608033 REVIEWED 1346377 RAP1GAP2 RAP1 GTPase activating protein 2 This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 17 p13.3 2716378 2957133 + 2659050 2941035 + 2776929 3037741 + 6480464;8554872 10470851;12477932;15383317;15632203;18039662;19528539;20379614;20936779;21658281;21906983;24324551 23108 Q684P5 AB028962;ABBA01054725;ABBA01054726;ABBA01054727;ABBA01054728;ABBA01054729;ABBA01054730;ABBA01054731;ABBA01054732;AC002316;AC005696;AC015921;AC097370;AJ628446;AJ628447;AK000478;AK124640;AK127021;AMYH02032786;AMYH02032787;AMYH02032788;AMYH02032789;AMYH02032790;AMYH02032791;BC037493;BC140870;BC140871;BE208439;BU629928;CH471108;CR627427;DN831680;KF456227;KF456234;NG_013030;NM_001100398;NM_015085;XM_005256541;XM_005256542;XM_005256543;XM_006721477 AAI40871;AAI40872;BAA82991;BAC85912;CAF31652;CAF31653;CAH10514;EAW90526;EAW90527;EAW90528;EAW90529;NP_001093868;NP_055900;Q684P5;XP_005256598;XP_005256599;XP_005256600;XP_006721540 Hs.499659 1715579;1728235;1729454;1737543;1755273;2011914;2108773;7184611 D17S128;D17S1581;G63541;GARNL4_9307;REN76885;RH120931;SHGC-142168 DKFZp686O238;GARNL4;KIAA1039;RAP1GA3 GTPase activating RANGAP domain-like 4;GTPase activating Rap/RanGAP domain-like 4;GTPase-activating Rap/Ran-GAP domain-like protein 4;rap1 GTPase-activating protein 2 APPROVED protein-coding ENSG00000132359 HGNC:29176 17028 REVIEWED 1353605 RAP2C RAP2C, member of RAS oncogene family The protein encoded by this gene is a member of the Ras-related protein subfamily of the Ras GTPase superfamily. Members of this family are small GTPases that act as molecular switches to regulate cellular proliferation, differentiation, and apoptosis. This protein has been reported to activate in vitro transcriptional activity of the serum response element. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] X X X q25 131723459 131738593 - 131337052 131353508 - 132203024 132219480 - 737633;1580863;6480464 12477932 15146197;15489334;15772651;16213650;16344560;16540189;17447155;17690704;19056867;19322201;19784953;21139048;21668950;21890473;21987572;23000965;23885123;24561123 57826 Q9Y3L5 ABBA01042206;ABBA01042207;ABBA01042208;ABBA01042209;ABBA01042210;ABBA01042211;ABBA01042212;AK124801;AK310997;AL049685;AL049792;AL832461;AMYH02040498;AMYH02040499;AY298955;BC003403;BC035382;BC051467;BI767215;BX399437;BX647223;CH471107;CN308919;DB252216;DB535605;NM_001271186;NM_001271187;NM_021183;NR_073150;XM_006724775;XR_430548;Z78022 AAH03403;AAP55684;ACE86779;ACE86825;ACE87465;ACE87511;BAG54098;CAB41256;EAX11782;EAX11783;NP_001258115;NP_001258116;NP_067006;Q9Y3L5;XP_006724838 Hs.119889;Hs.743556 1681578;2114671 DXS7405;RH94237 DKFZp313B211 OTTHUMP00000024036;OTTHUMP00000024037;ras-related protein Rap-2c;small GTPase RAP2C APPROVED protein-coding ENSG00000123728 HGNC:21165 06706 REVIEWED 1348992 RAP2A RAP2A, member of RAS oncogene family ENCODES a protein that exhibits GTPase activity; INVOLVED IN actin cytoskeleton reorganization; cellular protein localization; establishment of protein localization; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; recycling endosome; recycling endosome membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 13 13 13 q34 78933883 78967659 + 98086475 98120252 + 97434221 97467998 + 1580863;6480464;8554872 10085114;10224125;10591105;10777494;10862698;10926822;11524421;11786539;11857081;12444546;12477932;12581858;14702039;14966141;15031288;15057823;15342639;15451670;15489334;15752761;15761153;16246175;16344560;16540189;16963453;17716979;17918750;18497260;18624398;18701680;18789886;18930710;1900290;19061864;19322201;19645719;20159449;21139048;21890473;21987572;22797597;23000965;23469100;24586238;3045729;8424780;9312017;9523700 5911 F6U784;P10114 A08695;ABBA01027162;AF205602;AF493914;AK090533;AK094586;AK315139;AL442067;AMYH02028550;BC022356;BC041333;BC047495;BC070031;CB215818;CH471085;DA493957;DB480985;NM_021033;X12534 AAH41333;AAH70031;AAM12628;AAN71845;ACE86878;ACE87566;BAG37588;CAA00806;CAA31052;EAX08974;NP_066361;P10114 Hs.508480 1665075;1671344;1716989;1736376;1738427;2115011;2153872;2163544;2184681;5037744 D13S1357;D13S679E;D13S855E;D13S876E;D1S3694;RH124041;RH44768;RH77953;WI-16662;WI-19326 K-REV;KREV;RAP2;RbBP-30 OTTHUMP00000018581;RAP2, member of RAS oncogene family (K-rev);ras-related protein Rap-2a protein-coding HGNC:9861 01547 179540 VALIDATED 1321254 RANGAP1 Ran GTPase activating protein 1 This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 22 q13 25447987 25488613 - 41640781 41682255 - 41244777 41286251 - 1580863;6480464;8554872 10394366;10527945;10591208;10668806;11231159;11347906;11709548;11853669;11854305;12192048;12419228;12477932;12924945;14578449;15037602;15062103;15161980;15302935;15355965;15461802;15489334;15546615;15576338;15931224;16194093;16428860;16449645;16469311;16565220;16620772;16820290;17000644;17036045;17060450;17081983;17099698;17148452;17353931;17363900;17620599;17643375;17803295;18093978;18305100;18691969;18706886;19246003;19285941;19454010;19471022;19615732;19748360;20360068;20501649;20797634;20805321;21139048;21139563;21216249;21252943;21518904;21646468;21693764;21890473;21906983;21963094;21988832;22053931;22174317;22178446;22194619;22331847;22412018;22464730;22578841;22586326;22678362;22751105;22751501;22863883;22878415;22925898;22939629;23000965;23602568;23667531;23817569;23956138;24239288;24457600;24637324;24654937;24816145;24819975;25027693;7744835;7878053;7882974;8146159;8896452;8973340;8978815;9019411;9214382;9219684;9442102;9456312;9497385;9556629;9658103;9920803 5905 B0QYT4;B0QYT5;B0QYT6;H0Y4Q3;P46060;Q9BSK3 AB058738;ABBA01055626;ABBA01055627;AK302222;AK303524;AL035681;AMYH02038432;AMYH02038433;AMYH02038434;BC004990;BC014044;BC019676;BC041396;BC048990;BM551472;CH471095;CR456557;CX872993;DA269460;HY062550;HY251691;NM_001278651;NM_002883;X82260;XM_005261695;XM_005261696;XM_006724289 AAH04990;AAH14044;AAH19676;AAH41396;BAB47464;BAG63578;BAG64552;CAA57714;CAG30443;CAK54588;CAK54887;EAW60420;EAW60421;EAW60422;EAW60423;EAW60424;NP_001265580;NP_002874;P46060;XP_005261752;XP_005261753;XP_006724352 Hs.183800 1655842;1667367;1742997;1747583;1789352;2114038;2167625 A006B13;AB072759;G65454;G67898;GDB:229316;RH47123;RH47253 Fug1;KIAA1835;MGC20266;SD OTTHUMP00000198755;OTTHUMP00000198756;OTTHUMP00000198757;OTTHUMP00000198758;RANGAP;ran GTPase-activating protein 1;segregation distorter homolog;segregation distortion APPROVED protein-coding ENSG00000100401 HGNC:9854 03839 602362 REVIEWED 1320507 RAP1GAP RAP1 GTPase activating protein This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011] 1 1 1 p36.1-p35 20245427 20318559 - 21922708 21996010 - 21596215 21669517 - 1580863;6480464 10476970;10593970;10854065;11278445;12082090;12171996;12198116;12464615;12477932;12590145;12842888;12891710;1406653;14607972;14660640;15141215;15254236;15342556;15479739;15657046;15725075;16169070;16341674;16424023;16436672;17300802;17646383;17954608;18029348;18309292;18483282;18551404;18940312;1904317;19066305;19074885;19147557;19433443;19549374;20124489;20439492;20467438;21460216;21532618;21633110;21785277;21832044;21900206;22266190;22614916;22696507;23864657;24457600;24642466;8275700;8939933;9346962;9455484 5909 F2Z357;G3V1A7;J3KPC5;P47736;Q5T3T0;Q5T3T1;X6R8W7 AB003930;AB007943;ABBA01059822;ABBA01059823;AI827348;AL359815;AMYH02000456;AMYH02000457;BC035030;BC054490;BM739021;BP200029;BP283134;CH471134;CV574545;M64788;NG_029807;NM_001145657;NM_001145658;NM_002885;XM_005245954;XM_005245955;XM_005245956;XM_006710804;XM_006710805;XM_006710806;XM_006710807 AAA60252;AAH35030;AAH54490;ACE86585;ACE87268;BAA32319;BAA83674;EAW94979;EAW94980;EAW94981;EAW94982;EAW94983;EAW94984;EAW94985;EAW94986;NP_001139129;NP_001139130;NP_002876;P47736;XP_005246011;XP_005246012;XP_005246013;XP_006710867;XP_006710868;XP_006710869;XP_006710870 Hs.148178 1338747;1342399;1676410;1682740;1744675;1765905;1846580;1858444;2171996;2219604 AL009536;D1S2828;G15733;GDB:549205;RAP1GA1__5643;RH69163;RH75159;RH93937;SHGC-149316;SHGC-74322 KIAA0474;RAP1GA1;RAP1GAP1;RAP1GAPII OTTHUMP00000008709;OTTHUMP00000008710;OTTHUMP00000008711;OTTHUMP00000008712;RAPGAP;rap1 GTPase-activating protein 1 APPROVED protein-coding ENSG00000076864 HGNC:9858 02609 600278 REVIEWED 736930 RAP1B RAP1B, member of RAS oncogene family This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011] 12 12 12 q14 68668392 68717826 + 69004619 69054385 + 68610839 68660605 + 6480464;6484113;6907045 11076863;11230166;11256614;11258948;11994301;12089143;12407113;12477932;12665801;13679863;14702039;14741744;15078882;15141215;15489334;15489336;15863506;16005629;16118622;16357324;16381901;16581250;1696481;17318188;18187620;18309292;18582561;18625726;18660803;18781797;18805968;18842593;18948674;19199708;19651783;19738201;19864456;20139978;2105724;2108841;21139048;2123345;21832049;21853274;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22577140;22623428;22642900;22939629;22958893;23611601;23946483;24337580;24353183;24586238;24697700;24790136;24816145;3137530;3141412;7803284;8332187;8524240;8939933;9488663 5908 B7ZAY2;B7ZB78;E7ESV4;F5GWU8;F5GX62;F5GYB5;F5GYH7;F5GZG1;F5H004;F5H077;F5H0B7;F5H0S2;F5H491;F5H4H0;F5H500;F5H6R7;F5H7Y6;F5H823;F8WBC0;P61224 A08693;AA809981;AB062128;ABBA01026553;AC015550;AF279894;AF493913;AJ420497;AK127392;AK298818;AK301401;AK301428;AK311559;AK312371;AK316447;AK316543;AL080212;AMYH02026695;AMYH02026696;AMYH02026697;AMYH02026698;BC000176;BC078173;BC095467;BG717530;BT020093;CH471054;CR407689;CX868584;DB448914;EF581377;NM_001010942;NM_001251917;NM_001251918;NM_001251921;NM_001251922;NM_015646;X08004 AAH00176;AAH78173;AAH95467;AAK07551;AAM12627;AAV38896;ABQ52130;BAB93460;BAG35289;BAG60950;BAG62936;BAG62956;BAH14818;BAH14914;CAA00805;CAB45777;CAB46488;CAG28617;CAL38121;EAW97189;EAW97190;EAW97191;EAW97192;EAW97193;NP_001010942;NP_001238846;NP_001238847;NP_001238850;NP_001238851;NP_056461;P61224 Hs.369920 1644126;1653476;1736292;1765327;1850268;2159030;2189355;5016464 1670;D12S1240E;D12S1975;GDB:384854;MARC_2660-2661:991933047:1;SHGC-12704;SHGC-148818;SHGC-32780 DKFZp586H0723;FLJ18601;K-REV;RAL1B GTP-binding protein smg p21B;OTTHUMP00000165026;OTTHUMP00000165027;OTTHUMP00000165028;OTTHUMP00000240358;OTTHUMP00000240363;OTTHUMP00000240364;OTTHUMP00000240365;OTTHUMP00000240366;OTTHUMP00000240370;OTTHUMP00000240372;OTTHUMP00000240373;OTTHUMP00000240374;OTTHUMP00000240492;OTTHUMP00000240497;OTTHUMP00000240499;RAS-related protein RAP1B;Ras family small GTP binding protein RAP1B;ras-related protein Rap-1b;small GTP binding protein APPROVED protein-coding ENSG00000127314 HGNC:9857 01546 179530 REVIEWED 736861 RAP2B RAP2B, member of RAS oncogene family This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. [provided by RefSeq, Jul 2008] 3 3 3 q25.2 151298062 151304298 + 152880001 152888413 + 153162212 153170624 + 6480464 10085114;10608883;10737800;10934204;11786539;11877431;12444546;12477932;15489334;15613030;16189514;16213650;16540189;16712791;17316888;17342744;18582561;19056867;19738201;19913121;20471030;20628086;21139048;2115998;2118648;21890473;21906983;21963094;21987572;22623428;23000965;23535297;24586238;3045729;8356055;8391995;8424780 5912 P61225;Q5JQ44 ABBA01058879;AC117394;AF493915;AI718675;AL713766;AMYH02007923;AW997098;BC012362;BF965860;BI551390;BQ378964;BU507815;BU860799;BX116683;BX355341;CB116910;CH471052;HY071303;NM_002886;X52987 AAH12362;AAM12629;ABM82628;CAA37178;CAI46163;EAW78771;NP_002877;P61225 Hs.700713;Hs.98643 1674877;1677142;1788464;2131787;5021668 RH79703;SHGC-77466;SHGC-77468;VMCNG1X15;fl05f09.x1 MGC20484 OTTHUMP00000216113;Ras family small GTP binding protein RAP2B;ras-related protein Rap-2b;small GTP binding protein APPROVED protein-coding HGNC:9862 01548 179541 REVIEWED 731405 RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1 This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 104992289 105153075 - 134452157 134615364 - 131576770 131739977 - 6480464;6484113;6907045 10318861;10514505;10548487;10608804;10753869;10907644;11167825;11309621;11466412;11870224;12054111;12384139;12477932;12697763;12734187;14551197;14702039;15077165;15138850;15144186;15320955;15856025;16284401;16443220;16681758;17081983;17456239;17474147;17724123;17825818;18187620;18660489;18809728;18832707;18835194;19001122;19297053;19324082;19380743;20190816;20379614;20416077;20436929;20581864;20936779;21146886;21223981;21399874;21628423;21876762;21988832;22659131;23275563;24816145;7512734;7531694;7806500;7959692;8524240;8621483;8662907;8943292;8978305;9067577;9069267;9129019;9178909;9311917;9344843;9374471;9482107;9497377;9498705;9546424;9748234;9820532 2889 H0Y4V2;H0Y6R4;Q13905;Q5JUE5;Q5JUE6;Q5JUE9;Q68DL3 ABBA01012104;AF467069;AJ420417;AK023727;AK023760;AK302763;AL160271;AL160276;AMYH02021795;AMYH02021796;AMYH02021797;AMYH02021798;BC041710;BG429001;BG546427;BQ054243;BQ772947;CH471090;CR749354;D21239;DQ925677;DQ925678;DQ925679;DQ925680;DQ925681;DQ925682;DQ925683;DQ925684;NM_005312;NM_198679;XM_005272185;XM_005272186;XM_005272191;XM_005272195;XM_006717067;XM_006717068;XM_006717069;XM_006717070;XM_006717071;XM_006717072;XM_006717073;XM_006717074 AAH41710;AAP97718;ABL59904;ABL59905;ABL59906;ABL59907;ABL59908;ABL59909;ABL59910;ABL59911;ACE87852;ACT64379;BAA04770;BAG63974;CAH18207;EAW87985;EAW87986;NP_005303;NP_941372;Q13905;XP_005272242;XP_005272243;XP_005272248;XP_005272252;XP_006717130;XP_006717131;XP_006717132;XP_006717133;XP_006717134;XP_006717135;XP_006717136;XP_006717137 Hs.127897 1644904;1652345;1663138;1709184;1711342;1722229;1764009;1765295;1768050;1768052;1768934;1777536;2118458;2160932;2186633;5014055 A002Q14;D12S288;D1S3697;D9S2054;G60020;RH11721;RH16486;RH48515;RH65780;RH70308;SHGC-147667;SHGC-148792;SHGC-34480;SHGC-84926;SHGC-85759;STS-D21239 C3G;DKFZp781P1719;GRF2 CRK SH3-binding GNRP;OTTHUMP00000022419;OTTHUMP00000022420;OTTHUMP00000022423;guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene);rap guanine nucleotide exchange factor 1 APPROVED protein-coding ENSG00000107263 HGNC:4568 02627 600303 REVIEWED 6767316 RAPGEF4-AS1 RAPGEF4 antisense RNA 1 2 2 2 q31.1 167201313 167214329 - 173587917 173600934 - 172723189 172736206 - 11230166;17974005;8889548 91149 ABBA01020743;AC018712;AL157450;AMYH02005245;HG494882;NR_026995 ACE87342;ACE87437 Hs.711021 AC018712.3 APPROVED ncrna ENSG00000228016 HGNC:28081 VALIDATED 1318400 RAP1GDS1 RAP1, GTP-GDP dissociation stimulator 1 The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010] 4 4 4 q23-q25 96477193 96659685 + 99182527 99365012 + 98261376 98443861 + 1580863;6480464 11948427;12477932;12690117;14615375;14702039;1549351;16189514;17951244;19056867;19260141;19546222;20029029;20190816;20209136;20709748;20936779;21139048;21242305;21429211;21890473;21906983;22505724;22863883;23640485;23898208;24197117;24250222;24349085;24415755;24722188;24816145;8262526;8900189 5910 B3KNU0;B7Z4M5;D6RB97;D6RBC6;D6RC12;D6RC85;D6REZ0;D6RHH8;D6RHZ7;H0Y8M2;P52306;Q6U7G8;U3KQJ4 ABBA01063654;ABBA01063655;AC019077;AC058823;AC078961;AF215923;AF237413;AI800264;AK055032;AK295156;AK297543;AK311243;AMYH02009786;AMYH02009787;AMYH02009788;AY376900;BC001816;BC001851;BC098269;BC098334;BC099708;BC099845;BT006837;CH471057;DC367998;NM_001100426;NM_001100427;NM_001100428;NM_001100429;NM_001100430;NM_021159;X63465;XM_006714284;XM_006714285 AAF32290;AAF43211;AAH01816;AAH01851;AAH98269;AAH98334;AAH99708;AAH99845;AAP35483;AAQ85126;ABM81687;BAG51452;BAH11994;BAH12611;CAA45067;EAX06068;EAX06069;EAX06070;EAX06071;EAX06072;NP_001093896;NP_001093897;NP_001093898;NP_001093899;NP_001093900;NP_066982;P52306;XP_006714347;XP_006714348 Hs.132858 1675652;1684846;1695072;1720581;1730411;1750651;1768856;1775603;1796658;2110865;2126005;2129848;2162441;2180094;2191083;7184760 D4S1003;D4S2532E;D4S2845;D4S434E;G33443;G48170;G59245;MARC_14445-14446:1010425086:1;RAP1GDS1_1670;RH94307;RH99176;SHGC-111967;SHGC-67831;SHGC-67970;STS-N92500 GDS1;MGC118859;MGC118861;SmgGDS OTTHUMP00000219490;OTTHUMP00000219491;OTTHUMP00000219492;OTTHUMP00000219493;OTTHUMP00000219494;OTTHUMP00000219495;SMG GDS protein;SMG P21 stimulatory GDP/GTP exchange protein;exchange factor smgGDS;rap1 GTPase-GDP dissociation stimulator 1 APPROVED protein-coding ENSG00000138698 HGNC:9859 11763 179502 VALIDATED 1351048 RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 ENCODES a protein that exhibits cAMP binding (ortholog); Ras GTPase binding (ortholog); Ras guanyl-nucleotide exchange factor activity (ortholog); INVOLVED IN positive regulation of Ras GTPase activity (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cAMP-dependent protein kinase complex (inferred); cytosol (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 q31-q32 167213920 167531026 + 173600525 173917621 + 172735399 173052893 + 632397;1580863;6480464;8554872 9856955 10777494;11056535;11438518;11598134;11707077;12384139;12469113;12477932;14593429;14660679;15202935;15489334;15856025;16713569;17284589;18495799;18854429;19086053;19401682;19553663;19598235;19739231;20200953;20233795;20379614;20663796;21454623;22363678;23804752;24169561;24586238;24722188;8889548;9789079 11069 B7Z278;E9PB94;H7BYQ0;Q8WZA2;X5D7N4 AB027471;AB075513;AB209681;ABBA01020743;ABBA01020744;ABBA01020745;AC009484;AC018712;AC019046;AC104086;AK294433;AK294445;AK294914;AK294997;AK295002;AK296340;AK302732;AK304278;AK310373;AK311165;AK311500;AK311575;AK311697;AK313084;AK316014;AK316072;AMYH02005245;AMYH02005246;AMYH02005247;BC024004;BC040183;BI546558;BQ184791;CH471058;DB471672;DC335305;JC217780;KJ534924;KJ534925;KJ534978;NM_001100397;NM_001282899;NM_001282900;NM_001282901;NM_007023;U78516;XM_005246246;XM_006712205;XM_006712206 AAD03422;AAH24004;AAH40183;AAY15071;AAY24186;ABM84937;ABM92166;AHW56564;AHW56565;AHW56618;BAB72179;BAD92918;BAE45759;BAG35910;BAH11764;BAH11769;BAH11923;BAH11944;BAH11946;BAH12322;BAH13791;BAH14148;BAH14385;BAH14443;CDM22142;EAX11167;EAX11168;EAX11169;NP_001093867;NP_001269828;NP_001269829;NP_001269830;NP_008954;Q8WZA2;XP_005246303;XP_006712268;XP_006712269 Hs.470646 1709692;1710788;1711986;1764461;2118082;2124978 RH118446;SHGC-13676;SHGC-148065;SHGC-84070;SHGC-86333;WI-15265 2;CAMP-GEFII;CGEF2;EPAC;EPAC 2;EPAC2;Nbla00496 OTTHUMP00000165043;OTTHUMP00000165045;OTTHUMP00000205058;RAP guanine-nucleotide-exchange factor (GEF) 4;cAMP-regulated guanine nucleotide exchange factor II;exchange factor directly activated by cAMP 2;exchange protein directly activated by cAMP 2;putative protein product of Nbla00496;rap guanine nucleotide exchange factor 4 protein-coding ENSG00000091428 HGNC:16626 06929 606058 VALIDATED 7377287 RAP2C-AS1 RAP2C antisense RNA 1 DISCONTINUED: This record has been withdrawn by NCBI. This record was defined by AK095439, which is not sufficient evidence to define a distinct locus. X X q26.2 131352650 131566380 + 132218131 132432352 + 6480464 14702039 101928578 ABBA01042212;ABBA01042213;ABBA01042214;ABBA01042215;ABBA01042216;ABBA01042217;ABBA01042218;ABBA01042219;ABBA01042220;ABBA01042221;ABBA01042222;ABBA01042223;ABBA01042224;ABBA01042225;ABBA01042226;ABBA01042227;ABBA01042228;ABBA01042229;ABBA01042230;AK095439;AL050310;AL353676;CA867598;HG512688;KF459410;KF459412;NR_110410;XR_244538;XR_250666;Z78022 Hs.556853 RP5-842K24.2 ncrna HGNC:40957 VALIDATED 1315047 RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2 Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] 4 4 4 q32.1 157529482 157621655 + 160025224 160281314 + 159104072 159360162 + 1580863;6480464;6907045;8554872 10548487;10608844;10608883;10801446;10873669;10934204;11359771;11598133;11799111;12107413;12196628;12391161;12477932;14676191;15146197;16272156;16344560;17724123;20467438;20936779;21840392;21906983;21963094;22422452;22779921;23800469;23885123;24255178;24290981;24340059;24550385;7809086;8619474;9110174;9205841 9693 D6RAK0;D6RC78;D6REY8;H0Y8H7;H0Y8N8;H0Y8T6;H0Y905;H0YAJ8;Q9Y4G8 AB002311;ABBA01070221;ABBA01070222;ABBA01070223;AC074344;AC095064;AC105316;AF070570;AK294459;AL117397;AMYH02010383;BC110355;BC117321;BP386101;BU620827;CH471056;CQ772997;DA188103;NM_014247;XM_005263358;XM_005263359;XM_005263360;XM_005263361;XM_006714420;XM_006714421;XM_006714422 AAI17322;AAY40909;BAA20772;BAG57693;CAB55899;CAF33926;EAX04847;EAX04848;NP_055062;Q9Y4G8;XP_005263415;XP_005263416;XP_005263417;XP_005263418;XP_006714483;XP_006714484;XP_006714485 Hs.744884 1690153;1748865;2163990;2168526;2170219;2173425;2175718;2184413 A006Q46;RH45436;RH93702;SHGC-110526;SHGC-59760;STS-H47114;STS-T86195;WI-20985 PDZ-GEF1;PDZGEF1;RA-GEF;RA-GEF-1;Rap-GEP;nRap GEP CNrasGEF;NRAPGEP;OTTHUMP00000220255;PDZ domain containing guanine nucleotide exchange factor (GEF) 1;PDZ domain-containing guanine nucleotide exchange factor 1;RA(Ras/Rap1A-associating)-GEF;cyclic nucleotide ras GEF;neural RAP guanine nucleotide exchange protein;rap guanine nucleotide exchange factor 2;ras/Rap1-associating GEF-1 APPROVED protein-coding ENSG00000109756 HGNC:16854 609530 VALIDATED 1316955 RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6 ENCODES a protein that exhibits GTP-dependent protein binding; guanyl-nucleotide exchange factor activity; Ras GTPase binding; INVOLVED IN positive regulation of GTPase activity; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 5 5 5 q31.1 126889939 127101211 - 130759614 130970929 - 131423921 131635236 - 6480464;8554872 11524421;12095257;12477932;12581858;14698303;14702039;15302935;15324660;16055720;16192288;16344560;17030554;17081983;18029348;18585005;18718982;18804346;19176753;19460752;20800573;21139048;24250222;24255178 51735 B2RTU6;B7Z7Y1;D6RB02;D6RD23;D6RE77;D6RIH0;Q8TEU7 ABBA01068822;ABBA01068823;ABBA01068824;ABBA01068825;AC004227;AC004622;AC008497;AC008695;AC026754;AF085846;AF394782;AF478468;AF478469;AF478567;AK056296;AK074318;AK302640;AL832899;AMYH02012201;AMYH02012202;AMYH02012203;AV726501;AW204176;BC133703;BC140820;BC142964;BC144627;BU568060;BX117281;BX649095;CH471062;DA817493;NM_001164386;NM_001164387;NM_001164388;NM_001164389;NM_001164390;NM_016340 AAC04379;AAI33704;AAI40821;AAI42965;AAI44628;AAK83368;AAL79915;AAL79916;AAM21637;BAB85049;BAH13767;EAW62366;EAW62368;EAW62370;NP_001157858;NP_001157859;NP_001157860;NP_001157861;NP_001157862;NP_057424;Q8TEU7 Hs.483329 1335442;1340553;1663022;1664194;1668031;1696628;1705716;1705718;1739063;2187168;5022200;5022578;5037552 A005Y25;D1S1423;D5S1781;D5S2057;D5S2110;D8S2279;L18426;RH16425;RH68639;SHGC-82940;SHGC-83444;SHGC-83445;STS-R70741 DKFZp667N084;DKFZp686I15116;KIA001LB;PDZ-GEF2;PDZGEF2;RA-GEF-2;RAGEF2 OTTHUMP00000222521;OTTHUMP00000222522;OTTHUMP00000222523;OTTHUMP00000222524;OTTHUMP00000222525;OTTHUMP00000222526;OTTHUMP00000222527;OTTHUMP00000222532;PDZ domain containing guanine nucleotide exchange factor (GEF) 2;PDZ domain-containing guanine nucleotide exchange factor 2;PDZ domain-containing guanine nucleotide exchange factor I;rap guanine nucleotide exchange factor 6 protein-coding ENSG00000158987 HGNC:20655 11483 610499 VALIDATED 1314835 RAPSN receptor-associated protein of the synapse This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011] 11 11 11 p11.2 47601051 47612463 - 47459308 47470730 - 47437757 47449178 - 1580863;6480464;7240710;8549508;8554872;8699517 23032192 10477765;10859577;11323662;11342559;11791205;12388596;12477932;12651869;12730725;12796535;12807980;12929188;14504330;15036330;15252722;15282317;15328566;15482960;15489334;16280586;16931511;18029348;18179903;18420419;19549727;19620612;20301347;20930056;20978122;21305573;21372719;22326364;22939624;23824909;7619516;8812503;9136771;9520483;9804166;9856458 5913 E9PJP9;E9PK11;Q13702 ABBA01060711;AC090559;AF449218;AK310002;AMYH02024732;BC004196;CH471064;KF510374;NG_008312;NM_005055;NM_032645;XM_005253042;XM_005253043;Z33905 AAH04196;AAL86639;CAA83954;EAW67914;EAW67915;NP_005046;NP_116034;Q13702;XP_005253099;XP_005253100 Hs.81218 1689169 RH74913 CMS1D;CMS1E;MGC3597;RNF205 43 kDa receptor-associated protein of the synapse;43 kda postsynaptic protein;OTTHUMP00000234335;OTTHUMP00000234336;OTTHUMP00000234338;RING finger protein 205;acetylcholine receptor-associated 43 kda protein;rapsyn APPROVED protein-coding ENSG00000165917 HGNC:9863 03353 208150;601592;608931 REVIEWED 1318125 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 INVOLVED IN axon extension (inferred); cell-matrix adhesion (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell leading edge (inferred); cell projection (inferred); cytoplasm (inferred); INTERACTS WITH aflatoxin B1; arsenous acid; benzo[a]pyrene diol epoxide I 2 2 2 q33 198053361 198154883 - 204298538 204400058 - 203433682 203535335 - 6480464;8554872 11214970;11586298;14506234;14702039;15302935;15469845;15586368;15609301;15642358;15815621;18029348;18076380;19000833;19322201;19531213;19725029;21115820;21890473;21988832;22194892;22915108;23483482;24057252;24076656;8889548 65059 C9J0R8;C9J164;C9JLG4;C9K0J5;Q70E73;Q8N8R9 AB051468;AB053311;AB053320;ABBA01062612;ABBA01062613;AC018891;AF086189;AI217860;AJ584699;AK022729;AK095976;AK096270;AMYH02005597;AMYH02005598;AMYH02005599;AMYH02005600;AY494951;AY523977;AY523978;BE967038;BU620816;CA503229;CH471063;NM_203365;NM_213589;XM_005246777;XM_005246779;XM_005246780;XM_006712695 AAI56183;AAI56923;AAS16935;AAS16936;AAS82582;AAY14676;BAB21772;BAB69020;BAC04744;CAE48361;EAW70344;EAW70345;EAW70346;NP_976241;NP_998754;Q70E73;XP_005246834;XP_005246836;XP_005246837;XP_006712758 Hs.471162 1644111;1688751;1699406;1728861;1748509;1767230;2122830;2174731;2176909 G54500;RH103294;RH16509;RH45563;RH65997;RH68933;SHGC-30548;SHGC-32154;SHGC-34634 ALS2CR18;ALS2CR9;KIAA1681;LPD;PREL-2;PREL2;RMO1;RalGDS/AF-6 OTTHUMP00000163779;OTTHUMP00000163780;OTTHUMP00000206258;OTTHUMP00000208081;OTTHUMP00000208082;OTTHUMP00000208083;OTTHUMP00000208084;OTTHUMP00000208085;OTTHUMP00000208086;OTTHUMP00000208087;OTTHUMP00000208088;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 18 protein;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 9 protein;lamellipodin;proline rich EVH1 ligand 2;proline-rich EVH1 ligand 2;ras-associated and pleckstrin homology domains-containing protein 1 protein-coding ENSG00000173166 HGNC:14436 12356 609035 VALIDATED 1343059 RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] 7 7 7 p15.3 22143557 22382091 - 22157908 22396751 - 22118290 22357132 - 1580863;6480464;8554872 10486569;10777494;10934204;12477932;12690205;15342556;15489334;15856025;17725712;17903292;20379614;21546767;21988832;9039502 9771 A8MQ07;C9JBS6;C9JHM4;E9PGY3;F8WD32;Q5JPD2;Q92565 AA732485;AA815190;AA890636;ABBA01056688;ABBA01056689;AC005079;AK295859;AL833195;AL833229;AMYH02015348;AMYH02015349;AW511225;BC039203;BF512545;BP349215;CH236948;CH471073;D87467;DN996625;KF458405;KF458410;KF510287;NM_012294;W56891;XM_005249914;XM_005249915;XM_005249916;XM_005249917;XM_006715804 AAH39203;BAA13406;BAG58663;CAI46177;EAL24270;EAW93746;NP_036426;Q92565;XP_005249971;XP_005249972;XP_005249973;XP_005249974;XP_006715867 Hs.174768;Hs.713217 1336720;1650820;1723151;1778218;1786206;1786332;2119371;2134562;2139113;2149369;2152548;2155707;2180696;2180698;7186964 D7S1429;D7S1976;D7S2510;G17170;GDB:1317236;GDB:1318178;RH123760;RH46082;RH70247;SGC30845;SGC38371;SHGC-106887;SHGC-155317;SHGC-55982 GFR;KIAA0277;MR-GEF M-Ras-regulated GEF;M-Ras-regulated Rap GEF;OTTHUMP00000201874;REPAC;guanine nucleotide exchange factor for Rap1;rap guanine nucleotide exchange factor 5;related to Epac APPROVED protein-coding ENSG00000136237 HGNC:16862 15208 609527 VALIDATED 1347798 RAPGEFL1 Rap guanine nucleotide exchange factor (GEF)-like 1 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); receptor signaling protein activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); intracellular signal transduction (inferred); nervous system development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; atrazine 17 17 17 q21.1 34994758 35012421 + 38334242 38351906 + 40176284 40195656 + 1580863;6480464;8554872 12477932;20706999;21832049;9582122;9789079 51195 B4DGK9;F5GXC6;F5GY17;F5GYJ3;F5H2D5;F5H582;Q9UHV5 ABBA01031840;AC068669;AF117946;AK294642;AK304160;AK313492;AMYH02033395;BC029956;BC115374;BC115375;CH471152;KF459699;NM_016339;XM_006721932;XM_006721933;XM_006721934;XM_006721935;XM_006721936;XM_006721937;XM_006721938;XM_006721939 AAF22003;AAI15375;AAI15376;BAG36274;BAG57820;BAH14121;EAW60645;EAW60646;EAW60647;NP_057423;Q9UHV5;XP_006721995;XP_006721996;XP_006721997;XP_006721998;XP_006721999;XP_006722000;XP_006722001;XP_006722002 Hs.632254 1684600 RH80710 Link-GEFII;MGC134798;MGC134799 Link guanine nucleotide exchange factor II;OTTHUMP00000237586;OTTHUMP00000237588;OTTHUMP00000237589;RAP guanine-nucleotide-exchange factor (GEF)-like 1;link GEFII;rap guanine nucleotide exchange factor-like 1 protein-coding ENSG00000108352 HGNC:17428 17954 VALIDATED 1351216 RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 ENCODES a protein that exhibits Rap guanyl-nucleotide exchange factor activity; INVOLVED IN cellular response to cAMP; establishment of endothelial barrier; positive regulation of angiogenesis; PARTICIPATES IN long term potentiation; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17alpha-ethynylestradiol; aflatoxin B1; benzo[a]pyrene 12 12 12 q13.1 46925923 46950362 - 48128453 48164846 - 47734670 47759106 - 632397;1580863;6480464;6907045;8554872 9856955 10777494;11801596;12000763;12384139;12469113;12477932;12574122;12707263;12783872;14615375;14702039;15146197;15166221;15202935;15274052;15302884;15319437;15374886;15489334;15545605;15591041;15601837;15856025;16115630;16177794;16344560;16728394;16751380;16754664;16880999;16914720;16940330;17068197;17203972;17284589;17565009;17599964;17884339;17895245;17993585;18032709;18064650;18172027;18202100;18323524;18421013;18434542;18495799;18580452;18648773;18728186;19022848;19056867;19273589;19307216;19403523;19460752;19464664;19475578;19546222;19564576;19582788;19657062;19710505;19725049;19920825;20032304;20038525;20054824;20547757;20663796;20729327;20732872;20855527;20952690;21047789;21109603;21166931;21393242;21454546;21539721;21670213;21679469;21750123;21840392;22082156;22082266;22110680;22167199;22173835;22343288;22363678;22474076;22479536;22511766;22575451;22759971;23220153;23266473;23352189;23523631;23646189;23720748;23797058;23804752;24316969;24453361;24586238;24631457;8619474;9110174;9789079;9853756 10411 F8VRX1;F8VVJ6;F8VXK1;F8W0N0;H0YHS2;H0YIP6;O95398;Q99777 ABBA01031467;AC004241;AF103905;AK055502;AK074444;AK092448;AK125545;AK290230;AK299029;AK308079;AMYH02026416;BC017728;BC040534;BC068477;BC092404;BQ007070;CH471111;CN294139;CS416349;DA340363;DA529158;DA629958;DB179165;DB278856;NM_001098531;NM_001098532;NM_006105;U78168;U78169;U79275;XM_005268569;XM_005268570;XM_005268571;XM_006719197;XR_429071 AAB50216;AAC83381;AAD02890;AAD12740;AAH17728;AAH92404;ABM82487;ABM85674;BAF82919;BAG51527;BAG54212;BAH12932;CAL48169;EAW57944;EAW57945;EAW57946;EAW57947;EAW57948;EAW57949;NP_001092001;NP_001092002;NP_006096;O95398;XP_005268626;XP_005268627;XP_005268628;XP_006719260 Hs.8578 1681151;1736256;2184208 D12S1212E;RH91422;WI-22224 CAMP-GEFI;EPAC;EPAC 1;EPAC1;HSU79275;MGC21410;bcm910 9330170P05Rik;OTTHUMP00000165032;OTTHUMP00000165037;OTTHUMP00000241834;OTTHUMP00000241906;Rap1 guanine-nucleotide-exchange factor directly activated by cAMP;cAMP-regulated guanine nucleotide exchange factor I;exchange factor directly activated by cAMP 1;exchange protein directly activated by cAMP 1;rap guanine nucleotide exchange factor 3 protein-coding ENSG00000079337 HGNC:16629 06928 606057 VALIDATED 7835326 RARA-AS1 RARA antisense RNA 1 17 17 q21.2 38497119 38498942 - 40340867 40342690 - 12477932 101929693 ABBA01031831;AC080112;AMYH02033398;BC038432;NR_110861;XR_243700;XR_248357;XR_253670 Hs.655717 ncrna ENSG00000265666 HGNC:49577 VALIDATED 7245829 RARRES2P1 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 1 3 3 3 p12.3 76451320 76452001 + 75707666 75708289 + 75658515 75659138 + 643255 ABBA01030989;AC108724;AC245159;NG_029071 pseudo HGNC:48700 INFERRED 737497 RARB retinoic acid receptor, beta This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014] 3 3 3 p24.2 25406007 25576301 + 25215638 25639423 + 25428263 25597932 + 1580863;6480464;6484731;6484676;6484674;6907045;8699517;7240710;8554872 17132850;17320364;19471584 10198169;10411930;11769677;11834837;11839665;11925591;11945179;11980632;12009305;12118004;12124324;12191570;12399530;12477932;12529350;12554770;12576329;12579317;12665583;12789467;12805409;12839938;12839965;1313565;1321662;1331778;1332705;1379266;14601057;14614007;14691372;14726683;14726690;15014026;15028279;15217922;15217932;15231748;15255287;15361842;15375805;15383624;15467435;15489334;15502323;15528208;15558014;15604093;15604252;15635645;15688037;16128742;16134180;16244585;16255778;16287870;16288117;16389900;16478744;16613851;1663808;16858683;17001699;17065567;17195188;17244680;17252005;17363140;17549354;17556535;17615267;17686773;17804711;17900311;18036402;18058812;18166136;18212063;18254975;18271925;18349282;18483325;18519826;18538349;18547710;18663751;18673301;18783461;18825962;18845237;18852534;18957410;18976975;18996102;19081515;19127267;19221469;19258476;19258542;19345331;19350571;19443732;19469866;19553259;19618401;19657672;19809523;19828754;19829046;19880879;19902255;19913121;19940364;19945765;19961602;20211142;20302734;20346360;20374520;20379614;20496080;20505321;20508731;20535589;20571967;20602615;20606036;20628086;20634891;20704749;20711807;20864173;20865461;21162886;21254357;21287504;2153268;21638515;21680534;2170809;2177841;21795979;21822036;21916701;21923909;21946350;21988832;22116316;22286019;22451234;22487818;22659417;22693611;22694820;22837378;22901127;22964004;22967446;23102699;23156677;23284291;23299856;23376149;23382691;23456936;23474497;23504373;23644172;23675444;23716670;23851445;23946634;23969901;24050824;24075189;24953041;25036637;2542014;2825037;2833708;2836738;2844650;3014347;7565739;7628539;7705655;8275470;8383553;8612722;8707417;8754792;8950166;9005841;9817600 5915 D6RBI3;F1D8S6;P10826;Q3SB16;Q5QHG3;Q86UC5 AB307688;ABBA01025020;AC092422;AC093416;AC098477;AC133141;AF157483;AK292032;AK299756;AMYH02006422;AMYH02006423;AY501390;AY501391;BC030234;BC050415;BC060794;BC069735;CD014020;CD014021;CD014022;CH471055;CR536558;CS542441;DA882771;DC376623;DQ083391;HQ692863;HQ692864;M57445;M62303;M96016;M96017;M96018;M96019;M96020;M96021;M96022;M96023;NG_029013;NM_000965;NM_001290216;NM_001290217;NM_001290266;NM_001290276;NM_001290277;NM_001290300;NM_016152;NR_110892;NR_110893;S82362;X04014;X07282;X51650;X56849;X77664;Y00291 AAA58728;AAA60264;AAD45688;AAH50415;AAH60794;AAH69735;AAS85757;AAZ32403;ADZ17374;ADZ17375;BAF84721;BAG61645;BAH02279;CAA27637;CAA30262;CAA54740;CAA68398;CAG38795;CAM91170;EAW64354;EAW64355;NP_000956;NP_001277145;NP_001277146;NP_001277195;NP_001277205;NP_001277206;NP_001277229;NP_057236;P10826 Hs.654490;Hs.733004 1334676;1340205;1678155;1716029;1716417;1720341;1791520;1792212;1792954;1796662;1854556;2110109;2133536;2137823;2137825;2152804;2190813 D3S1583;D3S2327;D3S3335;D3S4231;PMC113761P1;PMC139866P1;PMC17571P1;RARB;RARB-707F;RARB_245.2;RH120953;RH121389;RH123921;SGC31578;SHGC-3675;SHGC-76778;UniSTS:470565 HAP;MCOPS12;MGC97363;NR1B2;RRB2 HBV-activated protein;OTTHUMP00000161046;OTTHUMP00000208324;OTTHUMP00000208325;OTTHUMP00000208326;RAR-beta;RAR-epsilon;hepatitis B virus activated protein;nuclear receptor subfamily 1 group B member 2;retinoic acid receptor beta;retinoic acid receptor beta 2;retinoic acid receptor beta 4;retinoic acid receptor beta 5;retinoic acid receptor beta variant 1;retinoic acid receptor beta variant 2;retinoic acid receptor, beta polypeptide APPROVED protein-coding ENSG00000077092 HGNC:9865 07183 180220;615524 REVIEWED 7245733 RARRES2P2 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 2 10 10 10 q26.3 1527 2011 + 135450912 135451396 - 133637408 133637892 - 644425 AC245077;AL731696;NG_005568 pseudo HGNC:48701 INFERRED 7245657 RARRES2P4 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 4 4 4 q35.2 190959076 190959557 - 190037921 190038402 - 644881 ABBA01015935;AF146191;AMYH02010728;NG_030220 pseudo HGNC:48703 INFERRED 7245683 RARRES2P8 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 8 6 16 16 p11.1 67162518 67167480 - 34777657 34778129 - 35543286 35543758 - 642652 ABBA01002114;AC092325;AMYH02031956;NG_030246 pseudo HGNC:48707 INFERRED 1342575 RARRES3 retinoic acid receptor responder (tazarotene induced) 3 Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [provided by RefSeq, Jul 2008] 11 11 11 q23 60628359 60638016 + 63304273 63313930 + 63536801 63546458 + 1580863;6480464 10687848;10955811;11078805;12477932;12879006;12928434;15489334;15742394;15846304;15850806;15856468;16005186;16306043;16344560;17196792;17762858;18174256;18948594;19017631;19234166;19245694;19615464;19734229;19913121;20403326;20588308;20628086;21200404;21203974;21289206;21830273;21858038;22009441;22185736;22260551;22377296;22383950;22391244;22590509;22607805;22616991;22833682;22864531;22960220;23089253;23264040;23385459;23552410;23824566;24401997;24586175;24599174;24868989;9204961;9270552;9843971 5920 A6NG31;Q9UL19 AB030815;AB453252;ABBA01003255;AF060228;AF092922;AK293357;AK312110;AMYH02024911;AP001591;BC009678;CH471076;DA973023;KF455398;NM_004585;R55646 AAC84000;AAF02294;AAH09678;ABM82370;ABM85548;BAB08109;BAG35046;BAG56873;BAH22446;EAW74156;NP_004576;Q9UL19 Hs.17466 1675064;1697466;1793654;1793656;1793658 PMC24531P1;PMC24531P2;PMC24531P3;RH102234;STS-W47350 HRASLS4;HRSL4;MGC8906;PLA1/2-3;RIG1;TIG3 HRAS-like suppressor 4;OTTHUMP00000237066;OTTHUMP00000237067;RAR-responsive protein TIG3;retinoic acid receptor responder protein 3;retinoic acid-inducible gene 1;retinoid-inducible gene 1 protein;tazarotene-induced gene 3 protein APPROVED protein-coding ENSG00000133321 HGNC:9869 05479 605092 VALIDATED 1319886 RARRES1 retinoic acid receptor responder (tazarotene induced) 1 This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 3 3 3 q25.32 156837482 156873035 - 158414892 158450642 - 158696892 158732853 - 1580863;6480464 11929948;12477932;14691453;15059893;15489334;16128742;16134180;16341674;18029348;19199708;19250291;19737656;19806788;19834535;21168224;21303978;21575264;22126303;22573467;22615834;22669512;24006221;24014597;8601727;9270552 5918 P49788 ABBA01058812;ABBA01058813;AC080013;AK130079;AMYH02008000;AMYH02008001;AW514087;BC029640;BM919188;CH471052;NM_002888;NM_206963;U27185;XM_005247686 AAA99722;AAH29640;ABM82259;ABM84293;ABM85442;ABM87683;EAW78675;EAW78676;NP_002879;NP_996846;P49788;XP_005247743 Hs.131269 1697530;2186073 RH102271;SHGC-77489 LXNL;TIG1 OTTHUMP00000213561;OTTHUMP00000213562;OTTHUMP00000213563;RAR-responsive protein TIG1;latexin-like;retinoic acid receptor responder protein 1;tazarotene-induced gene 1 protein APPROVED protein-coding ENSG00000118849 HGNC:9867 05477 605090 REVIEWED 1320450 RARRES2 retinoic acid receptor responder (tazarotene induced) 2 This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine, and is truncated on both termini from the proprotein. [provided by RefSeq, Dec 2008] 7 7 7 q36.1 144592497 144595853 - 150031033 150038773 - 150333944 150341683 - 1580863;6480464;8554872 10072769;12477932;12690205;12853948;14530373;14675762;14702039;15489334;15728234;15972683;16096270;17635925;17767914;18242188;18794339;18955196;19010784;19114666;19303973;19443732;19470637;19543554;19558533;19714754;19720798;19837789;19898481;20095887;20237162;20375212;20601676;20601896;20817486;20822885;21085476;21144611;21192818;21346723;21477622;21576834;21738955;21895733;21930706;21949124;21959042;21981776;22037282;22042485;22104178;22117111;22136911;22239017;22296200;22369992;22438234;22447224;22447628;22524287;22544171;22610747;22634313;22768214;22783586;22791765;22815691;22828724;22925375;22982016;22986456;23195684;23211604;23235922;23303213;23495698;23507574;23527010;23559624;23904282;23906870;23935128;24217118;24274970;9204961;9270552 5919 C9J8S2;Q99969 AACC02000108;AB015632;ABBA01035192;AC005586;AK092804;AK312197;AMYH02017057;BC000069;BM919890;BX448753;CH471173;CR541992;CR542026;NM_002889;U77594;XM_005250033 AAB47975;AAH00069;AAS00384;BAA76499;BAG35130;CAG46789;CAG46823;EAL24473;EAW54120;EAW54121;NP_002880;Q99969;XP_005250090 Hs.647064 1712194;1775212;2117479;2145972 G54148;RH18192;RH48459;SGC34814 HP10433;TIG2 OTTHUMP00000212797;OTTHUMP00000212798;OTTHUMP00000212799;OTTHUMP00000212800;RAR-responsive protein TIG2;chemerin;retinoic acid receptor responder protein 2;tazarotene-induced gene 2 protein APPROVED protein-coding ENSG00000106538 HGNC:9868 03577 601973 REVIEWED 8549162 RARSP1 arginyl-tRNA synthetase pseudogene 1 12 12 12 32795468 32797120 + 27649870 27651522 + 27496937 27498589 + 100419829 ABBA01068049;AC068794;AMYH02026246;NG_024072 pseudo HGNC:49893 INFERRED 1319432 RARS arginyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 163948808 163981683 + 167913463 167946311 + 168486458 168519306 + 1580863;6480464;8554872 10358004;10801842;10913161;11714285;12477932;12665801;15489334;16055448;16196087;16344560;1651330;17353931;17443684;18029348;18781797;19056867;19380743;19471022;19738201;19946888;20877624;20923763;21081666;21139048;21145461;21150319;21890473;21906983;21963094;21987572;22053931;22190034;22268729;22797925;22863883;22939629;23000965;23125841;23349634;23443559;23956138;24147044;24457600;24816145;24859084;562050;6530022;7590355;8052601;8078941;8125298;8188258;8449960;8889548;9278442;9556618;9878398 5917 E5RH09;E5RI24;E5RJM9;P54136 ABBA01044125;ABBA01044126;AC020894;AK222797;AK302161;AK314795;AMYH02012698;AU125370;BC000528;BC014619;BM984528;BT007394;CA439316;CH471062;NM_002887;S80343;XM_005265957 AAB35627;AAH00528;AAH14619;AAP36058;BAD96517;BAG37326;BAG63528;EAW61507;NP_002878;P54136;XP_005266014 Hs.654907 1655807;2130484;2138228;2159511;5022727;5090970 RARS;RH10999;RH12410;RH65982;STS-AA011177;WI-16695 ArgRS;DALRD1;MGC8641 OTTHUMP00000160962;arginine tRNA ligase 1, cytoplasmic;arginine--tRNA ligase;arginine--tRNA ligase, cytoplasmic;arginyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000113643 HGNC:9870 00142 107820 REVIEWED 1313439 RARS2 arginyl-tRNA synthetase 2, mitochondrial The protein encoded by this gene is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). [provided by RefSeq, Oct 2008] 6 6 6 q16.1 88642914 88718095 - 88223656 88299735 - 87514378 87590017 - 737633;6480464;7240710;8554872;8699517 12477932 14574404;14702039;15489334;15779907;16344560;17353931;17847012;20877624;21890473;22086604;22569581;23251661 57038 H0UI22;H0Y450;Q5T160 ABBA01040495;ABBA01040496;ABBA01040497;AF118086;AF143874;AK023550;AK093934;AK315669;AL049697;AL451126;AMYH02014054;AMYH02014055;BC010420;BC022341;BC105784;CA415020;CH471051;DA607375;NG_008601;NM_020320;XM_005248735;XM_005248736;XM_005248737;XR_241848 AAF22030;AAH10420;BAB14608;BAG38034;EAW48584;EAW48585;EAW48586;EAW48587;EAW48588;EAW48589;EAW48590;EAW48591;NP_064716;Q5T160;XP_005248792;XP_005248793;XP_005248794 Hs.485910 2115456;2141602;2174903;5015404 G29238;L17705;SGC30484;STS-W84730 ArgRS;DALRD2;MGC14993;MGC23778;PCH6;PRO1992;RARSL;dJ382I10.6 OTTHUMP00000016833;arginine--tRNA ligase;arginine-tRNA ligase;arginyl-tRNA synthetase-like;probable arginine--tRNA ligase, mitochondrial;probable arginyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000146282 HGNC:21406 15209 611523;611524 REVIEWED 6481127 RASA2-IT1 RASA2 intronic transcript 1 (non-protein coding) 100874298 AC010184 ncrna HGNC:41376 6481040 RASA3-IT1 RASA3 intronic transcript 1 (non-protein coding) 100874321 AL161774 ncrna HGNC:39938 733999 RARA retinoic acid receptor, alpha This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010] 17 17 17 q21 35125565 35174038 + 38465423 38513895 + 40309171 40357643 + 1600902;1580863;2314289;2314291;6480464;6484731;6484676;6484674;6907045;7240710;2314250;8699517 15659732;16420438;17132850;17320364;17956549;19471584;19596122 10022764;10082574;10207062;10336495;10337631;10361124;10428834;10454579;10480874;10531331;10567404;10610177;10611353;10617585;10698945;10760302;10786636;10823961;10860982;10866662;10872826;10882070;10882117;10938104;11014615;11050004;11106752;11158331;11274148;11279242;11331609;11353774;11358960;11382777;11439184;11574675;11812818;11891284;11929748;11971969;11980644;12000751;12009305;12039952;12048211;12052862;12060771;12080444;12101409;12138096;12193472;12213824;12235159;12393611;12399530;12403842;12420222;12468549;12477932;12482873;12503607;12505266;12549917;12612084;12665583;12691149;12805378;12810556;12835288;12874288;12935927;12935958;12943985;1310351;1311253;1314167;1347744;14521715;14559998;14581481;14592536;14691372;14702039;14705796;14737102;15171703;15246741;15249124;15254248;15255287;15308690;15336696;15337793;15489334;15528208;15601827;15604093;15635645;15670742;15674337;15729358;15746941;15808511;15809060;15831516;15839736;15870697;15941852;16085646;16113082;16179254;16189514;16203797;16219912;16239915;16289102;16311697;16316627;16341674;16344560;16368877;16417524;16424870;16432238;16449642;16456540;16469706;16480812;16504291;1652369;16540467;16606617;16630218;16712791;16713569;16728697;16769902;16778766;16797070;17005281;17195188;17244680;17252005;17272513;17272867;17363140;17451432;17455211;17456381;17468032;17475621;17538076;17560333;17595318;17611697;17628022;17641689;17656367;17712046;17761950;17943164;17960617;17991421;17993618;18000064;18024792;18073335;18087039;18180299;18212063;18270252;18305945;18416830;18636556;18660489;18845237;18922886;18978041;18996102;19029980;19100514;19106195;19128831;19144644;19144697;19173001;19224461;19322209;19341714;19345331;19350571;19401466;19458357;19465599;19563758;19626135;19628791;19732752;19799861;19828696;19850744;19855079;19863682;19884280;19902255;19913121;19917671;19937600;19965660;20080953;20130111;20133701;20133705;20155840;20159609;20159610;20185965;20190807;20211142;20338915;20346360;20354914;20413580;20467438;20543827;20544846;20548336;20572854;20574048;20628086;20634891;20693704;20736163;20804918;20807888;21053424;21150871;21187718;21190992;21245861;21254357;21255834;21262770;21272161;21310922;21364283;21383775;21451111;21613260;2170850;21736617;2175878;21803845;21900206;21923909;21934296;21949683;21984809;21988832;22022577;22045737;22056876;22135230;22181564;22182411;2218500;22498738;22982005;22982681;23000965;23064648;23064710;23102699;23208507;23271512;23448850;23474897;23612809;23770850;23775127;23782583;23847194;23868472;23898169;23969901;23975195;24038216;24050824;24183235;24264050;24394593;24550385;24608861;24806185;24819975;24821728;25036637;2825025;2825036;2899875;7566114;7566127;7705655;8051161;8244378;8302850;8562957;8598193;8603043;8616895;8650544;8887632;9005841;9115274;9121466;9192892;9238002;9256429;9267036;9288109;9346901;9380707;9415406;9430642;9445475;9486655;9491782;9531570;9582446;9628876;9632709;9642262;9653119;9717844;9773978;9795230;9920895 5914 A8K840;A8MUP8;B4E1J4;F1D8N9;J3KSJ4;J3QRM2;P10276;Q6I9R7 ABBA01031831;ABBA01031832;AC080112;AF088895;AF283809;AK098172;AK130192;AK292205;AK303868;AK312564;AL522713;AL834159;AMYH02033398;BC008727;BC071733;BG394590;BM838347;BM992549;BY799725;CB105313;CH471152;CR457438;CS542437;DA061829;DA541711;FJ487576;HQ692826;HQ692827;NG_027701;NM_000964;NM_001024809;NM_001145301;NM_001145302;S50916;X06538;X06614;X56058;X58685;XM_005257552;XM_005257553;XM_005257554;XM_005257555 AAB19602;AAD05222;AAF87249;AAH08727;AAH71733;ABM84457;ABM84670;ACK86665;ADZ17337;ADZ17338;BAF84894;BAG35459;BAG53585;BAG64806;CAA29787;CAA29829;CAA39533;CAA41532;CAG33719;CAH56277;CAM91168;EAW60652;EAW60653;EAW60654;EAW60655;EAW60656;EAW60657;EAW60658;NP_000955;NP_001019980;NP_001138773;NP_001138774;P10276;XP_005257609;XP_005257610;XP_005257611;XP_005257612 Hs.654583 1657919;1675700;1705874;1734036;1745593;1783644;1796660;1848432;2160346;5015792;5120856 D17S1335;G10521;GDB:180970;GDB:376702;GDB:625834;L17737;RARA_480;RH80640;SHGC-81199;SHGC-83476;STS-N54985 NR1B1;RAR OTTHUMP00000164453;OTTHUMP00000164454;OTTHUMP00000164455;OTTHUMP00000164456;OTTHUMP00000164457;RAR-alpha;Retinoic acid receptor, alpha polypeptide;nuclear receptor subfamily 1 group B member 1;nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long form;retinoic acid nuclear receptor alpha variant 1;retinoic acid nuclear receptor alpha variant 2;retinoic acid receptor alpha APPROVED protein-coding ENSG00000131759 HGNC:9864 06769 180240;612376 REVIEWED 732468 RASA1 RAS p21 protein activator (GTPase activating protein) 1 The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012] 5 5 5 q13.3 82456373 82579983 + 86564070 86687743 + 87268253 87391926 + 1581296;737716;1580863;1300048;6480464;6484113;6907045;7240710;8554872;8699517 15917201;8275088 10092539;10187839;10200531;10202139;10319320;10428862;10508618;10571081;10644995;10669731;10688886;10697503;10708762;10713673;10769036;10790433;10799545;10822173;10899172;11071635;11116152;11331873;11350068;11389730;11536198;11551902;11604231;11751853;11786539;11847220;11896619;11976319;12091389;12112020;12151397;12441060;12477932;12679785;12730209;12730241;1314164;1331107;1336372;1347942;1374686;1383690;1385407;14639529;15010862;15041706;15077193;15121898;1512257;15187129;1544885;1545818;15489334;15504032;1553544;15542850;15592455;15688026;15713673;1571536;1581965;16046410;16051609;16273093;1633149;16344560;1689011;16971514;1717825;17412687;1756860;18024870;18067320;18327598;18363760;18446851;1850098;18556463;18761085;18784923;19012001;19151751;19435801;19578876;19773259;19786546;19843518;20007727;20592250;20610402;20676106;20688547;20702649;20821215;21139048;21173776;2122974;2123878;21348050;21368895;21460216;2157284;21646295;2164710;21664272;2172781;2173144;2176151;21768288;21832049;2188736;21900206;22200646;22205990;22342634;22949691;22974441;2307479;23158644;23322774;23377640;23386617;23447049;23650393;24038909;24347041;24443565;24600991;2574500;2821624;2833817;3201259;7537265;7544435;7628625;7642582;7689724;7691175;7760813;7782336;8006063;8084603;8137811;8155326;8189062;8270251;8344248;8360177;8384556;8395016;8419471;8537347;8570203;8618896;8647858;8649363;8663024;8766817;8798684;8890167;8955277;8977179;9008161;9034330;9079622;9113414;9169421;9174053;9218456;9219684;9233798;9478921;9564850;9603468;9632780;9674711;9743338;9822717 5921 B4DTL2;E9PGC0;P20936;Q59GK3;Q68CU6 AB209106;ABBA01062123;AC010410;AC018754;AC035142;AC126776;AK300263;AK300269;AK300406;AK312739;AMYH02011749;AMYH02011750;BC020761;BC033015;BC054891;BC070063;BC107870;CF528258;CH471084;CR749722;DA863496;M23379;M23612;NG_011650;NM_002890;NM_022650 AAA35865;AAA52517;AAH20761;AAH33015;AAH54891;BAD92343;BAG35610;BAG62024;BAG62030;BAG62136;CAH18488;EAW95931;EAW95932;EAW95933;NP_002881;NP_072179;P20936 Hs.664080 1669317;1672623;1673332;1682189;1700162;1701336;1773861;1850736;1850963;2108411;2122268;2145048;2150357;2151894;2160750;2176995;5022743 1578;D5S2372;RASA1;RASA1_8586;RH103694;RH104298;RH15818;RH45809;RH69245;RH69527;RH78240;RH93053;SGC30189;STS-AA004311;STS-M23379;STS-N22145;WI-14548 CM-AVM;CMAVM;DKFZp434N071;GAP;PKWS;RASA;p120GAP;p120RASGAP GTPase-activating protein;OTTHUMP00000222390;OTTHUMP00000222391;OTTHUMP00000222392;OTTHUMP00000222393;RASGAP;ras GTPase-activating protein 1;ras p21 protein activator 1;triphosphatase-activating protein APPROVED protein-coding ENSG00000145715 HGNC:9871 00745 139150;605462;608354;608355 REVIEWED 6769838 RASA4CP RAS p21 protein activator 4C, pseudogene 7 7 7 p13 1451 3469 - 44068486 44080222 - 44028887 44040623 - 6480464 16344560;8889548 401331 ABBA01058213;AC017116;AK025420;AK300412;AK309730;AMYH02015615;BF000400;BM666862;CR627444;DA333098;NR_024116 BAG62141 Hs.530089;Hs.632627 5022578;5037552;5109281;5127088 D1S1423;D1S1425;D8S2279;GDB:4585406 RASA4P pseudo HGNC:44185 VALIDATED 2306251 RASA4B RAS p21 protein activator 4B ENCODES a protein that exhibits GTPase activator activity (inferred); metal ion binding (inferred); INVOLVED IN intracellular signal transduction (inferred); positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); FOUND IN cytoplasm (inferred); intracellular (inferred); plasma membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 q22.1 102123586 102158224 - 102483139 102517777 - 6480464 11448776;12853948;21139048;23000965;9847074 100271927 C9J798;F5GXT2;F8W6L0 AC093668;AC244503;AK301666;AMYH02016439;NM_001277335;XM_005250084;XM_005250085;XR_428162;XR_428163 BAG63140;C9J798;NP_001264264;XP_005250141;XP_005250142 Hs.530089 1670740;1849903;2179289 GDB:4585301;GDB:4585611;GDB:4585685 FLJ50902 OTTHUMP00000024897;OTTHUMP00000213282;OTTHUMP00000213285;putative Ras GTPase-activating protein 4B protein-coding ENSG00000170667 HGNC:35202 VALIDATED 1343935 RASA3 RAS p21 protein activator 3 The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This family member is an inositol 1,3,4,5-tetrakisphosphate-binding protein, like the closely related RAS p21 protein activator 2. The two family members have distinct pleckstrin-homology domains, with this particular member having a domain consistent with its localization to the plasma membrane. [provided by RefSeq, Jul 2008] 13 13 13 q34 95423074 95573004 - 114747194 114898095 - 113977783 114132620 - 1580863;6480464;8554872 10049724;10828023;10869341;11350068;12356770;12477932;14702039;15592455;19433443;21139048;2158984;21832049;21906983;21963094;22505724;22939629;23000965;7637787;7691175;7782336;9382842 22821 B7Z3G9;Q14644 ABBA01006271;ABBA01006272;ABBA01006273;ABBA01006274;AK128094;AK289746;AK294913;AK295861;AK313795;AL161774;AMYH02028750;AMYH02028751;AMYH02028752;AMYH02028753;AMYH02028754;AMYH02028755;AUXG01000135;BC038456;BC047242;BX537329;CH471085;KF511195;NM_007368;X89399;XM_005266196 AAH38456;AAH47242;BAF82435;BAH11922;BAH12205;CAA61580;EAX09232;EAX09233;EAX09234;NP_031394;Q14644;XP_005266253 Hs.593075 1647732;1701188;1761625;1761923;1779470;1782952;2108893;2167928;2167930;2169956;2185797 A005U29;G20512;RASA3_9273;RH104222;SHGC-145617;SHGC-145856;SHGC-153448;SHGC-156053;SHGC-30142;STS-A09781;STS-W90753 GAP1IP4BP;GAPIII;MGC46517;MGC47588 GAP1(IP4BP);GTPase activating protein III;Ins(1,3,4,5)P4-binding protein;OTTHUMP00000018781;inositol 1,3,4,5-tetrakisphosphate-binding protein;ins P4-binding protein;ras GTPase-activating protein 3 APPROVED protein-coding ENSG00000185989 HGNC:20331 05537 605182 REVIEWED 1316836 RASAL2 RAS protein activator like 2 This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 1 q24 151171756 151557813 + 178062864 178448649 + 178093729 178479514 + 1580863;6480464;8554872 12477932;14702039;14743216;15324660;16341674;16710414;17081983;18633578;18985028;19079260;19531213;20571754;20816195;21139048;22542470;22683310;23251661;23314748;23455922;24029233;24255178;8889548;9455484;9877179 9462 A8K2P3;H0Y638;Q9UJF2 AA127237;AB007970;AB209789;ABBA01027835;ABBA01027836;ABBA01027837;ABBA01027838;ABBA01027839;ABBA01027840;ABBA01027841;ABBA01027842;AF047711;AK000981;AK022662;AK075169;AK127614;AK290308;AK311017;AL035702;AL160281;AL365357;AL499617;AMYH02002215;AMYH02002216;AMYH02002217;AMYH02002218;AMYH02002219;AV706305;BC030292;BC041045;BC063442;BC078167;BC110611;BM973231;CH471067;KF455096;NM_004841;NM_170692;XM_005245620;XM_005245621;XM_005245622;XM_006711634 AAD04814;AAH41045;AAH63442;AAH78167;AAI10612;BAD93026;BAF82997;EAW91017;EAW91018;EAW91019;NP_004832;NP_733793;Q9UJF2;XP_005245677;XP_005245678;XP_005245679;XP_006711697 Hs.496139 1335036;1651338;1667857;1692360;1697278;1739317;1771629;1853418;2108895;2127778;2129557;2136218;2138417;2164104;2164455;2167798;2183998;5014051;5021872;5022200;5022651;5037552;5125391;7185500 A008L15;AL009680;AL034038;D11S2921;D1S1895E;D1S212;D1S2304E;D1S2425;D8S2278;D8S2279;L18426;RASAL2_8944;RH102136;RH45181;RH48824;RH68586;SHGC-30983;SHGC-31043;SHGC-75981;SHGC-75982;SHGC-75985;SHGC-75986;sY3084 MGC129919;NGAP OTTHUMP00000032947;OTTHUMP00000213597;RAS protein activator-like 2;Ras GTPase activating protein-like;Ras protein activator like 1;ras GTPase-activating protein nGAP APPROVED protein-coding HGNC:9874 05845 606136 REVIEWED 6769963 RASAL2-AS1 RASAL2 antisense RNA 1 1 1 1 151169535 151172020 - 178060643 178063128 - 178091508 178093993 - 12477932 100302401 ABBA01027842;AK124464;AL160281;AMYH02002215;BC027927;NR_027982 Hs.736117 APPROVED ncrna ENSG00000224687 HGNC:44170 PREDICTED 1323476 RASAL1 RAS protein activator like 1 (GAP1 like) The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010] 12 12 12 q23-q24 113163615 113201034 - 113536624 113574044 - 113098819 113136239 - 1580863;6480464;8554872 11230166;12221082;12477932;15489334;15960973;16009725;17640920;18992247;20473946;21906983;22589738;22825043;22863883;23251034;23665422;24136889;24712574;9751798 8437 O95294 AB208935;ABBA01019947;AC089999;AF086713;AK294350;AK309562;AL136672;AMYH02027233;BC014420;BC093724;BC143258;BC143261;BC143262;CH471054;NM_001193520;NM_001193521;NM_001301202;NM_004658;XM_005253950;XM_005253951;XM_006719641;XM_006719642 AAD09006;AAH14420;AAH93724;AAI43262;ABM83241;ABW03486;ACE87055;ACE87737;BAD92172;BAG57617;CAB66607;EAW98031;EAW98032;EAW98033;EAW98034;EAW98035;EAW98036;EAW98037;NP_001180449;NP_001180450;NP_001288131;NP_004649;O95294;XP_005254007;XP_005254008;XP_006719704;XP_006719705 Hs.528693 GAP1 like protein;OTTHUMP00000241921;OTTHUMP00000241922;OTTHUMP00000241923;OTTHUMP00000241924;RAS-GTPase-activating protein-like;RASAL;rasGAP-activating-like protein 1 APPROVED protein-coding ENSG00000111344 HGNC:9873 04986 604118 REVIEWED 2302537 RASAL3 RAS protein activator like 3 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); chloroprene (ortholog) 19 19 19 p13.12 15459253 15472196 - 15562435 15575382 - 15451624 15464571 - 6480464;8554872 12477932;14702039;16344560;19946888;20936779 64926 M0QX12;Q86YV0;Q9H7J2;V9GYD1 ABBA01051115;ABBA01051116;AC011492;AK024488;AK025091;AK122587;AL832868;AMYH02035660;AMYH02035661;AX236295;BC030281;CH471106;DA994945;NM_022904;XM_005260020;XM_006722841;XR_430149 AAH30281;BAB15064;BAB15778;BAC56928;CAC88277;EAW84481;NP_075055;Q86YV0;XP_005260077;XP_006722904 Hs.136979 2217736 PGLYRP2_3637 DKFZp667E013;FLJ00087;FLJ21438 RAS protein activator like-3 protein-coding ENSG00000105122 HGNC:26129 VALIDATED 731548 RASD1 RAS, dexamethasone-induced 1 This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer's disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011] 17 17 17 p11.2 18337168 18339124 - 17397751 17399709 - 17494437 17496395 - 6480464 10471929;10673050;10840027;10947988;11076863;11086993;11842095;11997338;12477932;12498886;12818426;15184869;15489334;15489336;16189514;16225846;16381901;16489124;17167088;17985234;18922798;19549772;21247419;21378990;21915321;24262325;9452419 51655 Q9Y272 ABBA01009759;AC073621;AF069506;AF153192;AF172846;AF177335;AF222979;AF262018;AF498923;AK294073;AK312796;AMYH02033089;BC018041;BC042688;CH471196;NG_028074;NM_001199989;NM_016084 AAD34206;AAD34621;AAF01364;AAF72997;AAG17979;AAG44256;AAH18041;AAM21071;BAG35656;BAG57415;CAL37859;CAL38036;CAL38592;EAW55705;NP_001186918;NP_057168;Q9Y272 Hs.25829 1691122 RH78076 AGS1;DEXRAS1;MGC:26290 OTTHUMP00000065541;activator of G protein signaling;activator of G-protein signaling 1;dexamethasone-induced Ras-related protein 1;dexras1 (dexras1);ras-related protein APPROVED protein-coding ENSG00000108551 HGNC:15828 08958 605550 REVIEWED 1346276 RASD2 RASD family, member 2 This gene encodes a Ras-related protein that enriched in striatum. The product of this gene binds to GTP and possesses intrinsic GTPase activity. The gene belongs to the Ras superfamily of small GTPases. The exact function of this gene is unknown, but most striatum-specific mRNAs characterized to date encode components of signal transduction cascades. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 19740616 19753311 + 35936556 35950048 + 35540507 35554001 + 704350;1580863;6480464 10467249 10591208;10947988;11976265;12477932;14724584;15461802;15489334;15761153;16945334;17556863;18029348;18571626;18815223;19060904;19255495;23583659;23999124;24324270 23551 Q96D21 ABBA01055418;AF279143;AL022334;AL831936;AMYH02038305;BC013419;CH471095;CR456477;NM_014310;XM_005261441;XM_005261442;XM_005261443 AAG00868;AAH13419;ABM83672;ABM86960;CAG30363;CAK54458;CAK54757;EAW60064;NP_055125;Q96D21;XP_005261498;XP_005261499;XP_005261500 Hs.474711 2177754 RH78091 MGC:4834;Rhes;TEM2 GTP-binding protein Rhes;OTTHUMP00000197925;Ras homolog enriched in striatum;tumor endothelial marker 2 APPROVED protein-coding ENSG00000100302 HGNC:18229 15210 612842 REVIEWED 1323065 RASGEF1C RasGEF domain family, member 1C ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4-hydroxynon-2-enal (ortholog) 5 5 5 q35.3 175153213 175262098 - 179527795 179636130 - 180100791 180209130 - 737633;1580863;6480464;8554872 12477932 14702039;16169070;20811636;8889548 255426 I6L9E5;Q8N431 ABBA01010056;ABBA01010057;AC104115;AC122713;AF449764;AK093160;AMYH02012899;AMYH02012900;BC036802;BC057759;BF967301;BM729117;CH471165;NM_175062;XM_006714839 AAH36802;AAH57759;AAP97676;BAC04079;EAW53769;EAW53770;EAW53771;NP_778232;Q8N431;XP_006714902 Hs.190559 2155132;2219606 RASGEF1C__5649;RH65540 FLJ35841 OTTHUMP00000161522;OTTHUMP00000161538;OTTHUMP00000224132;ras-GEF domain-containing family member 1C protein-coding ENSG00000146090 HGNC:27400 15212 VALIDATED 1319785 RASA4 RAS p21 protein activator 4 This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q22 44176228 44179437 - 102220093 102257205 - 102579646 102616758 - 1580863;6480464;8554872 11448776;11594756;12477932;12853948;14702039;15489334;16009725;16169070;16344560;21460216;23000965;23602568;9628581 10156 E5RGQ8;E5RID2;E5RK78;E7ERK1;H0YB35;H0YBU2;O43374 AB011110;AC004084;AC093668;AC105052;AK026441;AK093486;AK302370;AK308653;AK310176;AK315928;AMYH02016442;AMYH02016443;BC110873;BC113663;BC143584;BC143585;BG289308;BQ890546;CH471128;DA028746;DA841834;DB114101;NM_001079877;NM_006989;XM_005250104;XM_006715828;XM_006715829;XR_428164;XR_428165 AAB97935;AAI10874;AAI13664;AAI43585;AAP22345;ADR83403;BAA25464;BAG63692;BAH14299;EAW61133;NP_001073346;NP_008920;O43374;XP_005250161;XP_006715891;XP_006715892 Hs.530089;Hs.656696 1670740;1849903;2179289;5015376;5022450;5022578;5037552;5106295;5124713;5127088 D10S275;D1S1423;D8S2279;GDB:4585301;GDB:4585406;GDB:4585437;GDB:4585611;GDB:4585685;RH47924;STS-AA025752 FLJ59070;GAPL;KIAA0538;MGC131890;RASA4B CAPRI;Ca2+-promoted Ras inactivator;OTTHUMP00000216453;OTTHUMP00000216454;OTTHUMP00000216455;OTTHUMP00000225391;Putative Ras GTPase-activating protein 4B;calcium-promoted Ras inactivator;ras GTPase-activating protein 4;rasGAP-activating-like protein 2 APPROVED protein-coding ENSG00000105808 HGNC:23181 12135 607943 REVIEWED 735465 RARG retinoic acid receptor, gamma This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by binding as heterodimers to the retinoic acid response elements (RARE) found in the promoter regions of the target genes. In their unbound form, RARs repress transcription of their target genes. RARs are involved in various biological processes, including limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 12 12 12 q13 53252956 53274263 - 53604350 53626040 - 53210566 53232256 - 1580863;6480464;6484731;6484676;6484674;8554872 17132850;17320364;19471584 10318855;10336495;10428834;11641790;11855864;12189556;12220491;12399530;12477932;12554770;12665583;1310259;1318502;1320193;14603262;14657503;14691372;14705796;15383624;15489334;15604093;15635645;15734736;15839736;16344560;16456540;1655630;17195188;17252005;17325034;17363140;17574023;17943189;18438858;18484682;1849262;18685608;18816836;18845237;18996102;19345331;19350571;19416972;19416983;19563758;19732752;19902255;19913121;20133701;20346360;20387030;20420906;20602615;20628086;20634891;20857416;21178008;21254357;21401418;2157210;2157970;2172793;21923909;21988832;21990348;22362749;22901127;23000965;23518499;23798555;24050824;25036637;2546152;7501014;7685085;8301142;9083083;9491782;9501913;9852056;9865725 5916 A8K3H3;B7Z4B4;F1D8P1;H3BMH6;H3BMK1;H3BMY6;P13631 AB307689;ABBA01008318;AC021072;AC073573;AJ250835;AK290588;AK297023;AK297110;AK297277;AK297801;AK301057;AK316259;AL701206;AMYH02026515;AW002722;AY013703;AY013704;BC019098;BC064524;BC072462;BC093727;BC093729;BC098421;CH471054;CO394652;CS542443;DA436501;DA552724;DC294855;HQ692828;HQ692829;L12060;M24857;M32074;M38258;M57707;NG_029822;NM_000966;NM_001042728;NM_001243730;NM_001243731;NM_001243732;X57280;XM_005269054;XM_005269055;XM_005269056;XM_005269057 AAA52692;AAA60253;AAA60254;AAA63254;AAG41594;AAG41595;AAH93727;AAH93729;ADZ17339;ADZ17340;BAF83277;BAH02280;BAH12478;BAH12500;BAH12537;BAH12670;BAH13399;BAH14630;CAA40548;CAB60726;CAM91171;EAW96676;EAW96677;EAW96678;NP_000957;NP_001036193;NP_001230659;NP_001230660;NP_001230661;P13631;XP_005269111;XP_005269112;XP_005269113;XP_005269114 Hs.1497;Hs.733399 1646840;1656869;1744013;1788186;2108891;2127585;2132131;5120860 AFM310yh9;GDB:376723;GDB:384836;GDB:677651;RARG_247;Rarg;STS-M38258;WI-18980 NR1B3;RARC OTTHUMP00000045736;OTTHUMP00000241950;OTTHUMP00000241951;OTTHUMP00000241952;RAR-gamma;nuclear receptor subfamily 1 group B member 3;retinoic acid nuclear receptor gamma variant 1;retinoic acid nuclear receptor gamma variant 2;retinoic acid receptor gamma APPROVED protein-coding ENSG00000172819 HGNC:9866 01573 180190 REVIEWED 1315020 RASEF RAS and EF-hand domain containing This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012] 9 9 9 q21.32 56167301 56247219 - 85594500 85678043 - 82979585 83063128 - 737633;1580863;6480464 12477932 14702039;17448446;18385040;21139048;21890458;21890473;23251661;8889548 158158 Q8IZ41 ABBA01033995;ABBA01033996;AK056176;AK056882;AK290986;AL499602;AMYH02021109;AMYH02021110;AMYH02021111;AMYH02021112;BC023566;BM982321;CH471089;NM_152573;XM_005251730;XM_005251731 AAH23566;BAF83675;EAW62643;EAW62644;NP_689786;Q8IZ41;XP_005251787;XP_005251788 Hs.129136 1668240;1684381;1749859;2168698;5015613 D11S3059;RH70056;RH92568;SHGC-111590;WI-11205 FLJ31614;RAB45 OTTHUMP00000021538;RAB45, member RAS oncogene family;RAS and EF hand domain containing;ras and EF-hand domain-containing protein;ras-related protein Rab-45 protein-coding ENSG00000165105 HGNC:26464 08337 611344 REVIEWED 69460 RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011] 5 5 5 q13 76160831 76426223 + 80256491 80525981 + 80960672 81230162 + 1580863;6480464;6907045;8554872 10373510;11238945;11756498;11856323;12376548;12477932;12787561;14622581;14702039;14749369;16344560;16596198;17353931;17923690;18029348;19692568;20011522;20379614;21130132;21685891;22419666;23223532;23568457;23827383;24692549;9027497;9032266;9707409 5924 D6RAS9;O14827;Q68DX5 ABBA01062049;ABBA01062050;ABBA01062051;ABBA01062052;ABBA01062053;ABBA01062054;AC020901;AC026427;AF023130;AF181250;AK094809;AL598102;AMYH02011675;AMYH02011676;AMYH02011677;AMYH02011678;AMYH02011679;BC041953;BC126112;BC136296;BC143870;BU430075;BX502901;CH471084;CQ834808;CR749239;DA219722;DA230428;NG_030334;NM_006909;XM_005248564;XM_005248565;XM_006714665;XM_006714666 AAB80953;AAD55268;AAI26113;AAI36297;CAH05619;CAH18095;EAW95863;NP_008840;O14827;XP_005248621;XP_005248622;XP_006714728;XP_006714729 Hs.162129 1342000;1670207;1713373;1721957;1756053;1785776;1854704;2121005;2134309;2160303;2166107;2166109;2170040;2176561;2219608;5092852 A005S20;A009B02;D17S1288;D5S1437;D5S2322;D5S2632;G20459;G20891;G20896;G29263;G32371;G59864;RASGRF2__5650;RH119541;SHGC-142860;SHGC-84312 DKFZp781H1715;GRF2;RAS-GRF2 OTTHUMP00000147545;OTTHUMP00000222350;guanine nucleotide-releasing factor 2;ras guanine nucleotide exchange factor 2;ras-specific guanine nucleotide-releasing factor 2 APPROVED protein-coding ENSG00000113319 HGNC:9876 07588 606614 REVIEWED 8656451 RASGRF2-AS1 RASGRF2 antisense RNA 1 5 q14.1 80947693 80960907 - 8889548 102524628 ABBA01062048;ABBA01062049;AC008518;AC026427;AMYH02011675;BM682385;HG498128;NR_105015 Hs.737159 ncrna ENSG00000251450 HGNC:40499 VALIDATED 1344062 RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009] 15 15 15 q24.2 56188621 56319894 - 79252289 79383215 - 78959947 79090873 - 1580863;6480464;6907045;8554872 10220378;10373510;10681520;10882715;10918068;11500497;11533041;11756498;12095702;12376548;12384139;12477932;12531897;12538592;12775420;12787561;1379731;14622581;14702039;14749369;15513915;16344560;16855028;16969075;17030618;17389601;17611684;19678938;19692568;20031603;20835236;21685891;21988832;22623531;22752028;22961779;23200899;23396134;23897914;24150758;7637786;7684828;7828890;9154803;9384379;9543386 5923 A8K270;Q13972;Q8IUU5 ABBA01060598;ABBA01060599;ABBA01060600;ABBA01060601;ABBA01060602;ABBA01060603;AC011944;AC104231;AF370414;AK092325;AK226101;AK290135;AK301205;AK309047;AL109674;AL109675;AL355696;AL359931;AMYH02030874;AMYH02030875;BC040275;CH471136;DA126882;L26584;M91815;NM_001145648;NM_002891;NM_153815;S62035;XM_005254578;XM_006720627;XM_006720628;XM_006720629 AAA58417;AAB26881;AAH40275;AAQ15250;BAF82824;BAH13432;EAW99141;EAW99142;NP_001139120;NP_002882;NP_722522;Q13972;XP_005254635;XP_006720690;XP_006720691;XP_006720692 Hs.459035 1647146;1709870;1727601;1767763;2133110;2147847;2157844;5021616;5107686 A004I12;D15S1337;D15S788;G63209;RASGRF1,_c.1826+37_T>A;RH46141;SHGC-3223;SHGC-84765;STS-L26584 CDC25;CDC25L;GNRP;GRF1;GRF55;H-GRF55;PP13187;ras-GRF1 OTTHUMP00000185565;Ras-specific guanine nucleotide-releasing factor, CDC25 homolog;Ras-specific nucleotide exchange factor CDC25;guanine nucleotide exchange factor;guanine nucleotide-releasing factor 1;guanine nucleotide-releasing factor, 55 kD;guanine nucleotide-releasing protein;ras-specific guanine nucleotide-releasing factor 1 APPROVED protein-coding ENSG00000058335 HGNC:9875 606600 REVIEWED 735538 RASA2 RAS p21 protein activator 2 The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member has a perinuclear localization and is an inositol 1,3,4,5-tetrakisphosphate-binding protein; a compound suggested to function as a second messenger. [provided by RefSeq, Jul 2008] 3 3 3 q22-q23 139629479 139754949 + 141205891 141334186 + 141487049 141615344 + 1580863;6480464;6907045;8554872 10074452;14530271;18029348;21139048;22210626;23222517;24816145;8699317;8812506;8917095;9382842;9796816 5922 D6RBA9;Q15283 AB209161;ABBA01059044;ABBA01059045;ABBA01059046;ABBA01059047;ABBA01059048;AC010184;AC092977;AF115573;AK025305;AK292016;AK301015;AMYH02007804;AMYH02007805;CH471052;D78155;D78156;D82880;D82881;NM_006506;XM_005247688;XM_006713719;XM_006713720 AAD09821;AAI72285;AAI72578;BAA11230;BAA11231;BAA11621;BAA11622;BAD92398;BAF84705;BAG62632;EAW78998;EAW78999;NP_006497;Q15283;XP_005247745;XP_006713782;XP_006713783 Hs.655941;Hs.98445 1339781;1686638;1711132;1789212;1852865;2165536;2165928;5021714 D3S3711;G65605;RH45159;RH47834;RH80770;SHGC-52540;SHGC-86225;ksks347 GAP1M GTPase-activating protein 1m;GTPase-activating protein of RAS;OTTHUMP00000217804;ras GTPase-activating protein 2 APPROVED protein-coding ENSG00000155903 HGNC:9872 601589 REVIEWED 1314108 RASGEF1A RasGEF domain family, member 1A ENCODES a protein that exhibits Ras guanyl-nucleotide exchange factor activity; INVOLVED IN cell migration; positive regulation of Ras GTPase activity; positive regulation of Ras protein signal transduction; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular (inferred); INTERACTS WITH methylmercury chloride; trichostatin A; valproic acid 10 10 10 q11.21 39694563 39706156 - 43689983 43762367 - 43194533 43266919 - 737633;1580863;6480464;8554872 12477932 14702039;15759212;15829955;17121879;19196962;19645719;19953087;23251661;24478790 221002 H7BYA3;Q8N9B8 ABBA01049996;AC068707;AI862588;AK095136;AK127432;AMYH02022707;BC022548;CH471160;FB700916;HY118234;NM_001282862;NM_145313;XM_005271808;XM_005271809 AAH22548;BAC04491;BAG54503;CAS02256;EAW86590;EAW86591;NP_001269791;NP_660356;Q8N9B8;XP_005271865;XP_005271866 Hs.125293 1697250;2111290;2119976;2190935;5119837 D10S1176;GDB:182527;MARC_11791-11792:1029262607:1;RH102119;RH15675 CG4853;FLJ37817 CG4853 gene product;OTTHUMP00000019480;OTTHUMP00000019481;OTTHUMP00000195167;ras-GEF domain-containing family member 1A protein-coding ENSG00000198915 HGNC:24246 15211 614531 VALIDATED 1348873 RASGEF1B RasGEF domain family, member 1B ENCODES a protein that exhibits Ras guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Ras GTPase activity; FOUND IN endosome (inferred); intracellular (inferred); INTERACTS WITH 17beta-estradiol; arsane; arsenic atom 4 4 4 q21.21 79640936 79685783 - 82347547 82393082 - 81426393 81471928 - 1580863;6480464 12477932;12488504;14702039;18391951;19645719;22303795;23377640 153020 D6RE71;Q0VAM2;Q8N437 ABBA01063417;ABBA01063418;ABBA01063419;AC006287;AC093618;AC093747;AK056257;AK291459;AK303625;AMYH02009580;BC036784;BC121003;BC121004;BX648337;CH471057;DR002387;NM_001300735;NM_001300736;NM_152545;XM_005262776;XM_005262777;XM_006714112 AAH36784;AAI21004;AAI21005;AAY40982;AAY41054;BAB71130;BAF84148;BAG64633;EAX05869;NP_001287664;NP_001287665;NP_689758;Q0VAM2;XP_005262833;XP_005262834;XP_006714175 Hs.591696 1719775;1776399;2158788;2191105;5015961 D15S1477;D4S3092;D4S468;MARC_14757-14758:1010690492:3;RH123579 FLJ31695;GPIG4;MGC46251 GPI gamma-4;GPI-gamma 4;OTTHUMP00000219220;OTTHUMP00000219221;OTTHUMP00000219223;ras-GEF domain-containing family member 1B protein-coding ENSG00000138670 HGNC:24881 17955 614532 VALIDATED 6776135 RASA4DP RAS p21 protein activator 4CD, pseudogene 7 7 q22.1 102319153 102330918 - 102678706 102690471 - 100133005 AC105052;AC244503;AMYH02016439;AMYH02016440;AMYH02016441;AMYH02016442;AMYH02016443;NG_011686 pseudo HGNC:44226 INFERRED 733193 RASGRP4 RAS guanyl releasing protein 4 The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 19 19 19 q13.1 35701935 35719058 - 38899695 38916945 - 38409058 38426305 - 1580863;6480464;6907045;8554872 11880369;11956218;12477932;12493770;14702039;18024961;18029348;19350351;21182207;21933395;22728827 115727 Q8TDF6 ABBA01040680;ABBA01040681;ABBA01040682;AC005789;AC011469;AC093076;AF448437;AK097292;AMYH02036071;AY048119;AY048120;AY048121;BC142721;BC146669;BC150202;BC151216;BQ028385;CH471126;FJ768677;FJ768678;FJ768679;FJ768680;FJ768681;FJ768682;NM_001146202;NM_001146203;NM_001146204;NM_001146205;NM_001146206;NM_001146207;NM_170604 AAI46670;AAI50203;AAK85701;AAK85702;AAK85703;AAL87858;ACN82414;ACN82415;ACN82416;ACN82417;ACN82418;ACN82419;EAW56794;NP_001139674;NP_001139675;NP_001139676;NP_001139677;NP_001139678;NP_001139679;NP_733749;Q8TDF6 Hs.130434 1653108;2175811;5019070;5024413 G44334;L17877;RH65873;SHGC-37260 RAS guanyl-releasing protein 4;guanyl nucleotide releasing protein 4 APPROVED protein-coding ENSG00000171777 HGNC:18958 09540 607320 REVIEWED 69137 RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008] 15 15 15 q14 15547460 15623931 - 38780302 38857661 - 38488101 38564806 - 633848;1580863;6480464;6907045;8554872 9789079 10087292;11257115;12477932;12845332;14583629;15829980;16344560;17190838;17283063;17353931;17576779;17658605;17702895;17878389;18711365;18760455;18840781;19058789;19100522;19465406;19960345;20467438;20670164;21815871;21829393;21856938;21966541;21968647;21976405;22116551;22939629;22961080;23128233;24132900;24390342;9582122 10125 B2RA89;F5H514;H0YKM0;H0YKP8;H0YMF3;H0YMT0;H0YN83;H0YNG8;H0YNK9;O95267 AA742351;AB208848;ABBA01038478;ABBA01038479;AC116158;AC124306;AF081195;AF081197;AF106071;AK295097;AK314091;AK316067;AMYH02030216;AY634315;AY858556;AY954625;AY966005;BC032849;BC067298;BC109296;BC109297;BU431038;CH471125;DA993002;KF456047;NG_023268;NM_001128602;NM_005739;XM_005254114 AAC79699;AAC97349;AAF21898;AAH67298;AAI09297;AAI09298;AAT47482;AAW32406;AAX54699;AAX76907;ACE87777;ACT64443;BAD92085;BAG36786;BAG58133;BAH14438;EAW92372;NP_001122074;NP_005730;O95267;XP_005254171 Hs.591127 1684503;1718689;1736530;1765581;2117304;2145743;2159768;2175570 D15S732E;RH123035;RH68073;RH99024;SHGC-149041;SHGC-36087;SHGC-64063;WI-22267 CALDAG-GEFI;CALDAG-GEFII;MGC129998;MGC129999;RASGRP;V;hRasGRP1 RAS guanyl nucleotide-releasing protein 1;RAS guanyl-releasing protein 1;calcium and DAG-regulated guanine nucleotide exchange factor II;guanine nucleotide exchange factor, calcium- and DAG-regulated, Rap1A;ras activator RasGRP;ras guanyl releasing protein 1 APPROVED protein-coding ENSG00000172575 HGNC:9878 04909 603962 REVIEWED 1606572 RASL10A RAS-like, family 10, member A ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); INVOLVED IN GTP catabolic process (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); plasma membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; arsenous acid 22 22 22 q12.2 13508778 13511604 - 29708922 29711745 - 29312933 29315756 - 6480464;8554872 12477932;15489334;15731001;15833841;17984325;20646714;21264544;21631628;8975699 10633 Q92737 ABBA01055261;AC002059;AMYH02038198;BC022473;BC040434;BC050739;BC058077;BF436320;BX111994;CH471095;NM_006477;Y07847 AAH22473;AAH40434;AAH50739;AAH58077;CAA69175;EAW59796;EAW59797;NP_006468;Q92737 Hs.73088 1771911;2115415;2157285 RH17231;RH70963;WI-20850 RRP22 OTTHUMP00000199144;OTTHUMP00000199145;RAS-related on chromosome 22;ras-like protein RRP22;ras-like protein family member 10A;ras-related protein on chromosome 22 protein-coding ENSG00000100276 HGNC:16954 03744 602220 VALIDATED 1313233 RASIP1 Ras interacting protein 1 INVOLVED IN negative regulation of autophagy; angiogenesis (ortholog); branching morphogenesis of an epithelial tube (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi apparatus (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; atrazine; etoposide 19 19 19 q13.33 46089934 46110062 - 49223842 49244136 - 48720585 48740887 - 737633;6480464;8554872 12477932 14702039;15031288;15489334;18330356;20379614;21060863;21102463;21926972;21963094;21987572;21988832;23372041;23798437 54922 M0R148;Q5U651;Q7L251;Q8IUR2 ABBA01032968;ABBA01032969;ABBA01032970;ABBA01032971;AC008888;AC009002;AK000408;AK123179;AMYH02036310;AY378097;BC021860;BC028614;BC042111;BX389914;CH471177;NM_017805;XM_005259023;XM_005259024;XM_006723250;XM_006723251;XM_006723252 AAH21860;AAH28614;AAH42111;AAR24580;BAA91145;BAG53877;EAW52393;EAW52394;NP_060275;Q5U651;XP_005259080;XP_005259081;XP_006723313;XP_006723314;XP_006723315 Hs.233955 2109739;2128034;2130417;2147841;2153122;2172742 A004F11;D19S1127;EST196348;G30919;RASIP1_9847;WI-16013 FLJ20401;RAIN ras-interacting protein 1 protein-coding ENSG00000105538 HGNC:24716 15214 609623 VALIDATED 1343885 RASL11A RAS-like, family 11, member A RASL11A is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008] 13 13 13 q12.2 8913338 8916701 + 27844464 27847828 + 27270327 27273767 + 6480464 12477932;15033445;19322201;20168301 387496 Q6T310 ABBA01035750;AL159977;AMYH02027748;AY439004;BC132703;BC136761;CH471075;NM_206827;XM_005266370;XM_005266371 AAI32704;AAI36762;AAS07577;ADR82880;EAX08402;NP_996563;Q6T310;XP_005266427;XP_005266428 Hs.192131 OTTHUMP00000018162;ras-like protein family member 11A APPROVED protein-coding ENSG00000122035 HGNC:23802 17956 612403 PROVISIONAL 1323188 RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated) The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Three alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13 61820826 61839372 - 64494383 64512928 - 64726911 64745456 - 633848;1580863;6480464;6907045;8699517;8554872 9789079 10918068;11292831;11503142;12239348;12477932;14702039;14702343;16169070;16344560;20606303;21768215;21832049;21890473;22505724;23530823;23563504;23611601;24816145;24958846;9341881 10235 A6NHE2;A6NJ28;A8MTF9;A8MVK8;C9JKH6;C9JZ82;E7EM78;E7EMB4;E7EWQ7;Q7LDG7 ABBA01024147;ABBA01024148;AF043722;AF043723;AF081194;AK092852;AK092882;AK122694;AK124023;AK314637;AMYH02024940;AMYH02024941;AP001462;BC110306;BC117151;CH471076;CQ979233;DA286186;DB498812;NG_007574;NM_001098670;NM_001098671;NM_153819;U78170;XM_005273707;XM_006718411;XM_006718412;XM_006718413;XM_006718414;XM_006718415;XM_006718416;Y12336 AAC79698;AAD12741;AAF07219;AAF07220;AAI10307;AAI17152;ADR83220;BAG37199;BAG52620;BAG53672;CAA73005;CAI45372;EAW74281;EAW74282;EAW74283;NP_001092140;NP_001092141;NP_722541;Q7LDG7;XP_005273764;XP_006718474;XP_006718475;XP_006718476;XP_006718477;XP_006718478;XP_006718479 Hs.99491 1689494;1742535;1800074;1800076;1802398;1802520;1802890;1803624;1803626;1804856;1807070;1807586;1807588;1808570;1809994;1810396;1812000;1812980;1815296;1816270;1820034;1821838;1822956;1824856;1825410;1826390;1827638;1829194;1833348;1837284;1837330;1840426;1842176;1843082;1843514;1843572;1845186;1970654;1970656;1970658;1970660;1970662;1970664;1970666;1970668;1970670;1970672;1970674;1970676;1970678;1970680;1970682;1970684;1970686;1970688;1970690;1970692;1970694;1970696;1970698;1970700;1970702;1970704;1970706;1970708;1970710;1970712;1970714;1970716;1970718;1970720;1970722;1970724;1970726;1970728;1970730;1970732;1970734;1970736;1970738;1970740;1970742;1970744;1970746;1970748;1970750;1970752;1970754;1970756;1970758;1970760;1970762;1970764;1970766;1970768;1970770;1970772;1970774;1970776;1970778;1970780;1970782;1970784;1970786;1970788;1970790;1970792;1970794;1970796;1970798;1970800;1970802;1970804;1970806;1970808;1970810;1970812;1970814;1970816;1970818;1970820;1970822;1970824;1970828;1970830;1970832;1970834;1970836;1970838;1970840;1970842;1970844;1970846;1970848;1970850;1970852;1970854;1970856;1970858;1970860;1970862;1970864;1970868;1970870;1970872;1970874;1970876;1970878;1970880;1970884;1970886;1970888;1970890;1970892;1970894;1970896;1970900;1970902;1970904;1970906;1970908;1970910;1970912;1970916;1970918;1970920;1970922;1970924;1970926;1970928;1970930;2130916;2151267;2159869;2177141;2214880;2214882;5111979 D11S4627;ECD00892;ECD00893;ECD02084;ECD02146;ECD02334;ECD02718;ECD02719;ECD03363;ECD04500;ECD04765;ECD04766;ECD05267;ECD05989;ECD06190;ECD07005;ECD07504;ECD08684;ECD09177;ECD11089;ECD12005;ECD12566;ECD13527;ECD13812;ECD14309;ECD14939;ECD15724;ECD17817;ECD19809;ECD19832;ECD21399;ECD22291;ECD22749;ECD22966;ECD22995;ECD23810;G31866;G33090;G33102;G43609;GDB:197858;REN56210;REN56211;REN56212;REN56213;REN56214;REN56215;REN56216;REN56217;REN56218;REN56219;REN56220;REN56221;REN56222;REN56223;REN56224;REN56225;REN56226;REN56227;REN56228;REN56229;REN56230;REN56231;REN56232;REN56233;REN56234;REN56235;REN56236;REN56237;REN56238;REN56239;REN56240;REN56241;REN56242;REN56243;REN56244;REN56245;REN56246;REN56247;REN56248;REN56249;REN56250;REN56251;REN56252;REN56253;REN56254;REN56255;REN56256;REN56257;REN56258;REN56259;REN56260;REN56261;REN56262;REN56263;REN56264;REN56265;REN56266;REN56267;REN56268;REN56269;REN56270;REN56271;REN56272;REN56273;REN56274;REN56275;REN56276;REN56277;REN56278;REN56279;REN56280;REN56281;REN56282;REN56283;REN56284;REN56285;REN56286;REN56287;REN56288;REN56289;REN56290;REN56291;REN56292;REN56293;REN56294;REN56295;REN56297;REN56298;REN56299;REN56300;REN56301;REN56302;REN56303;REN56304;REN56305;REN56306;REN56307;REN56308;REN56309;REN56310;REN56311;REN56312;REN56313;REN56314;REN56315;REN56317;REN56318;REN56319;REN56320;REN56321;REN56322;REN56323;REN56325;REN56326;REN56327;REN56328;REN56329;REN56330;REN56331;REN56333;REN56334;REN56335;REN56336;REN56337;REN56338;REN56339;REN56341;REN56342;REN56343;REN56344;REN56345;REN56346;REN56347;REN56348;RH93814;stSG635664;stSG635665 CALDAG-GEFI;CDC25L F25B3.3 kinase-like protein;OTTHUMP00000042931;OTTHUMP00000069245;OTTHUMP00000069246;OTTHUMP00000196700;RAS guanyl nucleotide-releasing protein 2;RAS guanyl-releasing protein 2;calcium and DAG-regulated guanine nucleotide exchange factor I;calcium and diacylglycerol-regulated guanine nucleotide exchange factor I;cdc25-like protein;guanine exchange factor MCG7;hCDC25L APPROVED protein-coding ENSG00000068831 HGNC:9879 09278 605577;615888 REVIEWED 1353496 RASL11B RAS-like, family 11, member B RASL11B is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008] 4 4 4 q12 51225048 51229555 + 53728495 53733002 + 52862328 52866835 + 1580863;6480464 12477932;14702039;15033445;16189514;17628721;19953087;21832049;22087225;23824909 65997 Q9BPW5 ABBA01003383;AC023154;AK027267;AK314942;AMYH02009210;AY839725;AY839726;BC001087;BC001846;BC025694;BK001672;CH471057;NM_023940 AAH01087;AAH01846;AAH25694;AAX46798;AAX46799;BAB55008;BAG37448;DAA02135;EAX05441;NP_076429;Q9BPW5 Hs.8035 1341734 D4S2971 MGC2827;MGC4499 OTTHUMP00000128290;ras-like protein family member 11B APPROVED protein-coding ENSG00000128045 HGNC:23804 15216 612404 PROVISIONAL 1314790 RASL12 RAS-like, family 12 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN GTP catabolic process (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 15 15 15 q11.2-q22.33 42223841 42238547 - 65337919 65360707 - 65045673 65068363 - 737633;1580863;6480464;8554872 12477932 12107412;15761153;17207965;21832049 51285 Q9NYN1 ABBA01038861;AC013553;AF233588;AK296261;AK300536;AK314914;AMYH02030619;BC053734;BI489884;CH471082;NM_016563;XM_005254433;XM_005254434 AAF60286;AAH53734;ADQ33054;BAG37426;BAG58974;BAG62244;EAW77709;EAW77710;NP_057647;Q9NYN1;XP_005254490;XP_005254491 Hs.27018 1669825;1680058;1736518;1851183;2109741;2146383 D15S619E;D15S726E;D15S953;RASL12_9697;RH48386;RH98169 RIS OTTHUMP00000164148;Ras family member Ris;ras-like protein Ris;ras-like protein family member 12 protein-coding ENSG00000103710 HGNC:30289 15217 VALIDATED 2290196 RASSF10 Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 INVOLVED IN signal transduction (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH valproic acid; cisplatin (ortholog) 11 11 11 p15.2 13156837 13158788 + 13030970 13033653 + 13009423 13012106 + 6480464 18272789;19570220;19934646;20956940;22113481;22415519;23251661;23428420 644943 A6NK89 ABBA01061126;AC084859;AMYH02024347;AMYH02024348;BX098487;NM_001080521 A6NK89;NP_001073990 Hs.134650 peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor-like;ras association domain-containing protein 10 protein-coding ENSG00000189431 HGNC:33984 614713 VALIDATED 1313644 RASSF2 Ras association (RalGDS/AF-6) domain family member 2 This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008] 20 20 20 p13 4830391 4874014 - 4760669 4804291 - 4780023 4823645 - 1580863;6480464 11210185;11780052;11857081;12477932;12732644;15489334;15569673;15806169;16012945;16265349;16344560;17013896;17013898;17320110;17549418;17891178;18294275;19509163;19513612;19525978;19555684;19773381;19962960;20368356;20379614;20562859;20716062;20920251;21409489;21792082;21890473;21906983;23455922;23455924;23542458;23887284;24255178;24816145;8125298;8724849 9770 P50749 ABBA01053857;ABBA01053858;AK222650;AK291458;AK307232;AL133354;AMYH02036628;AMYH02036629;AY154470;AY154471;AY154472;BC110385;BC117118;BC117120;CH471133;CR627436;D79990;DA333367;NM_014737;NM_170774;XM_005260895;XM_006723668;XM_006723669 AAI10386;AAI17119;AAI17121;AAN59975;AAN59976;AAN59977;ADR82929;BAA11485;BAD96370;BAF84147;CAH10522;EAX10445;NP_055552;NP_739580;P50749;XP_005260952;XP_006723731;XP_006723732 Hs.631504 1652432;1653760;1849729;2177882;5024039;5024761;5109281 D16S325;D1S1425;RH25385;RH36905;RH66432;SHGC-34960;WI-12264 CENP-34;DKFZp781O1747;KIAA0168 OTTHUMP00000030170;RASFADIN;Ras association (RalGDS/AF-6) domain family 2;centromere protein 34;ras association domain-containing protein 2 APPROVED protein-coding ENSG00000101265 HGNC:9883 15218 609492 REVIEWED 1322024 RASL10B RAS-like, family 10, member B ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN positive regulation of peptide hormone secretion (ortholog); regulation of systemic arterial blood pressure by atrial natriuretic peptide (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 3,3',4,4',5-pentachlorobiphenyl; all-trans-retinoic acid 17 17 17 q12 30968817 30980678 + 34058679 34070540 + 35731660 35743521 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;16344560;17028781;17207965;17984325;19322201;19953087;21832049;21988832 91608 Q96S79 AB047296;ABBA01011234;AC006237;AK122652;AMYH02033351;AMYH02033352;BC041133;CH471147;DA250459;NM_033315 AAH41133;ADQ32999;BAB60894;BAG53643;EAW80132;NP_201572;Q96S79 Hs.744994 MGC47540;RRP17;VTS58635 OTTHUMP00000163889;Ras-related protein 17;ras-like protein VTS58635;ras-like protein family member 10B protein-coding ENSG00000270885 HGNC:30295 15215 612128 VALIDATED 1317179 RASSF4 Ras association (RalGDS/AF-6) domain family member 4 The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41458395 41493346 + 45455183 45491337 + 44959765 44994728 + 6480464;8554872 11748221;12477932;14702039;15164054;15375500;15489334;15574778;16385451;17373700;19066393;20562859;23455922;23954638;24255178 83937 Q5T737;Q5T739;Q9H2L5;R4GNA4;V9GYK1 AB209446;ABBA01050023;ABBA01050024;AF260335;AK055763;AK092770;AK097272;AK311531;AL353801;AL713716;AMYH02022728;AMYH02022729;AY216713;AY216714;AY216715;AY216716;BC032593;BI601296;CH471160;NM_032023;XM_005271833;XM_005271835;XM_006718013;XM_006718014;XM_006718015 AAG44666;AAH32593;AAO61138;AAO61139;AAO61140;AAO61141;BAD92683;CAD28511;EAW86627;EAW86628;NP_114412;Q9H2L5;XP_005271890;XP_005271892;XP_006718076;XP_006718077;XP_006718078 Hs.522895 1645131;1687590;1705670;1736028;1762783;1769383;2119900;2150623;2160193 A002O19;D10S1304E;G19246;NIB353;RH66474;RH79743;SGC38063;SHGC-146564;SHGC-83413 AD037;MGC44914 OTTHUMP00000019493;Ras association (RalGDS/AF-6) domain family 4;Ras association domain family 4;ras association domain-containing protein 4;tumor suppressor RASSF4 APPROVED protein-coding HGNC:20793 15219 610559 REVIEWED 1322918 RASSF3 Ras association (RalGDS/AF-6) domain family member 3 The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM, Jul 2003] 12 12 12 q14.2 64669061 64754040 + 65004293 65091347 + 64610513 64697567 + 1580863;6480464 11965544;12477932;15489334;15569673;18029348;19148488;20237496;21832049;21906983;22593196;23455922;23555615;24246507;24255178;24295637;24816145 283349 Q496A9;Q86WH2 AA425154;ABBA01026596;ABBA01026597;ABBA01026598;ABBA01026599;AC025262;AC078962;AMYH02026664;AMYH02026665;AMYH02026666;AY217662;AY217663;BC100949;BC100950;BC100951;BC100952;CH471054;KF455659;NM_178169;NR_040718;XM_006719345 AAI00950;AAI00951;AAI00952;AAI00953;AAO61687;AAO61688;EAW97134;EAW97135;EAW97136;NP_835463;Q86WH2;XP_006719408 Hs.643605 1336204;1647961;1697524;1723467;1769748;2128919 AFMa066xb9;D12S1548;D12S1585;RH102266;RH118552;RH65638 MGC119194;MGC119195;MGC119197;RASSF5 OTTHUMP00000239511;OTTHUMP00000239512;Ras association (RalGDS/AF-6) domain family 3;ras association domain-containing protein 3 APPROVED protein-coding ENSG00000153179 HGNC:14271 08448 607019 VALIDATED 1314751 RASSF7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 INVOLVED IN apoptotic process (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; arsenous acid 11 11 11 p15.5 623629 626683 + 560309 564025 + 559470 564025 + 6480464;8554872 12477932;12812986;1339391;15098441;15489334;16730941;18272789;19367319;20629633;21278800;21988832;22623531;22695170;24722188;8889548 8045 E9PM39;F8W7Q0;H0YEI0;Q02833 ABBA01015192;AC138374;AL535761;AMYH02024145;AP006284;BC106921;BC106922;CA315057;CH471158;M91083;NM_001143993;NM_001143994;NM_003475;XM_005253147;XM_005253148;XM_005253149;XM_005253150;XM_005253151;XM_006718337;XM_006718338;XM_006725142;XM_006725143;XM_006725144;XM_006725145;XM_006725146 AAA58667;AAI06922;AAI06923;ABZ92268;EAX02348;EAX02349;EAX02350;EAX02351;NP_001137465;NP_001137466;NP_003466;Q02833;XP_005253204;XP_005253205;XP_005253206;XP_005253207;XP_005253208;XP_006718400;XP_006718401;XP_006725205;XP_006725206;XP_006725207;XP_006725208;XP_006725209 Hs.72925 2133520;7186171 STS-M91083 C11orf13;HRAS1;HRC1;MGC126069;MGC126070 HRAS1-related cluster protein 1;HRAS1-related cluster-1;OTTHUMP00000162847;OTTHUMP00000162848;OTTHUMP00000162849;OTTHUMP00000228594;Ras association (RalGDS/AF-6) domain family 7;chromosome 11 open reading frame 13;ras association domain-containing protein 7 protein-coding ENSG00000099849 HGNC:1166 00878 143023 VALIDATED 1318811 RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 12 12 12 p12.3 31273156 31379362 + 26111964 26232825 + 25959031 26079892 + 6480464 10951517;11053263;11836357;12477932;14676191;14702039;15324660;15489334;16189514;16344560;16462760;17194498;17207965;17979178;20379614;20514026;21139048;21832049;21915095;23455924;23503679;24255178 11228 A8K8G8;F5GYP8;F5H0S5;F5H343;F5H7J1;F5H8B9;F5H8C5;H0YG85;Q8NHQ8 AB093206;ABBA01068028;ABBA01068029;AC055707;AK021604;AK290055;AK292333;AL122049;AMYH02026230;AY665468;AY665469;AY665470;AY665471;BC030021;BC040580;BE440096;CH471094;CR456905;DB044325;DB055998;HC877937;NG_029077;NM_001164746;NM_001164747;NM_001164748;NM_007211;U82396;XM_006719027;XM_006719028 AAC95425;AAH30021;AAV54603;AAV54604;AAV54605;AAV54606;ADQ32384;BAC98838;BAF82744;BAF85022;CAG33186;CBM42859;EAW96522;EAW96523;EAW96524;EAW96525;NP_001158218;NP_001158219;NP_001158220;NP_009142;Q8NHQ8;XP_006719090;XP_006719091 Hs.696433 1671973;1697692;1855627;2147326;2176601 G17661;RH102362;RH69290;STS-N36106;WI-17542 C12orf2;DKFZp434O0227;FLJ11542;HOJ1;HoJ-1 OTTHUMP00000240062;OTTHUMP00000240063;OTTHUMP00000240066;OTTHUMP00000240125;carcinoma associated HOJ-1;carcinoma-associated protein HOJ-1;chromosome 12 open reading frame 2;ras association domain-containing protein 8 APPROVED protein-coding ENSG00000123094 HGNC:13232 07084 608231 REVIEWED 7244742 RASSF8-AS1 RASSF8 atnisense RNA 1 12 12 26107587 26112375 - 25954654 25959442 - 12477932;14702039;16344560 100506451 ABBA01068027;ABBA01068028;AC055707;AK055961;AK090817;AMYH02026230;BC004962;BC071788;BX109355;DA306887;DA682910;DB074156;HG504604;HG504606;HG504607;HG504609;HG504610;HG504611;HG504612;NG_029077;NR_038227;NR_038228 Hs.560092 1778734;2175407;5022578;5024039;5037552;5037554;5118800;5127056 D11S3663;D16S325;D1S1423;D8S2279;D8S2282;RH66626;SHGC-37112;STS-T96122 RP11-877E17.2 ncrna HGNC:48637 VALIDATED 1312152 RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated) Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] 2 2 2 p25.1-p24.1 33500106 33628502 + 33661416 33789798 + 33436349 33564731 + 2314812;6480464;6907045;8554872 19421330 10048485;10934204;11076863;11221888;11230166;12477932;12730099;14702039;15213298;15489334;15489336;15545601;15572660;15657177;15894621;16344560;16381901;17012239;17353931;19838193;20379614;20516000;20876802;21602881;21832049;21988832;23273568;8401585 25780 C9IYA5;C9J9C9;C9JSS2;C9JWP0;C9K0P4;H7C352;Q8IV61 AA351079;AB020653;ABBA01074908;ABBA01074909;AC020594;AK125551;AK292983;AMYH02003569;AMYH02003570;BC027849;BX114300;BX647990;CH471053;DA336406;DA403707;DA439087;FB342951;FB711074;NM_001139488;NM_015376;NM_170672;XM_005264246;XM_005264247 AAH27849;AAY15037;BAA74869;BAF85672;CAL37457;CAR81476;CAS91492;EAX00432;EAX00433;EAX00434;NP_001132960;NP_056191;NP_733772;Q8IV61;XP_005264303;XP_005264304 Hs.143674 1689724;1693734;1734906;1850113;1856283;2109737;2184630;5014051;5015861;5016478;5020274;5020881;5022200;5022578;5022651;5037552;5109281;7185938 D10S16;D11S2921;D1S1423;D1S1425;D2S1679E;D2S1998;D8S2278;D8S2279;GDB:434012;L17709;L18426;L18441;RASGRP3_9408;RH93807;SHGC-52802;SHGC-58804;WI-11876 GRP3;KIAA0846 OTTHUMP00000201243;OTTHUMP00000201245;OTTHUMP00000201303;calcium and DAG-regulated guanine nucleotide exchange factor III;guanine nucleotide exchange factor for Rap1;ras guanyl-releasing protein 3 APPROVED protein-coding ENSG00000152689 HGNC:14545 15213 609531 VALIDATED 731307 RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008] 12 12 12 q21.31 85861052 85893065 - 86198331 86230318 - 85804553 85836540 - 633607;1580863;6480464;8554872 9837933 12477932;14702039;18272789;22053931 9182 O75901 ABBA01053441;ABBA01053442;AC016993;AC137768;AF056209;AK022089;AMYH02026874;BC031589;CH471054;NM_005447 AAD03250;AAH31589;ABM81713;ABM84869;BAG51066;EAW97399;NP_005438;O75901 Hs.527881 1646254;2219444 G17641;PAMCI__5820 P-CIP1;PCIP1 OTTHUMP00000242230;PAM COOH-terminal interactor protein 1;PAMCI;peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor protein-1;ras association domain-containing protein 9 APPROVED protein-coding HGNC:15739 08826 610383 REVIEWED 1343966 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011] 3 3 3 p21.3 50340051 50351201 - 50367217 50378367 - 50329786 50340936 - 2291977;2291979;2299860;2299863;2299869;2299862;2299865;2299867;2299861;2299866;2299868;6480464;6484113;6907045;7240710;8699517;8554872 12222680;16545186;17325427;17645803;17960617;18425370;18469797;18480993;18483325;18608185;18702824 10888881;10998413;11085536;11306494;11333291;11390984;11857081;12024041;12032847;12067994;12082610;12082623;12082624;12114441;12142046;12399230;12477932;12527916;12545168;12594816;12647816;12670917;12673680;12684417;12762840;12792742;12794755;12795841;12839965;12839968;12912945;14506151;14511407;14601057;14603253;14688019;14729613;14743218;14871978;14961078;14961576;15027117;15075335;15109305;15145946;15205320;15231747;15251938;15375503;15378022;15447998;15469871;15480433;15540210;15546880;15700308;15711568;15736067;15753381;15761971;15780049;15799820;15867337;15867363;15870267;15942659;15948711;15949439;15980887;15987713;16007340;16028839;16096369;16125301;16140931;16169070;16186793;16229803;16315018;16316825;16329043;16344548;16510573;16596198;16606445;16619251;16641997;16810318;16891396;16912161;16918136;16937357;16951144;17064406;17099724;17170014;17251440;17320110;17342751;17360030;17379520;17444856;17473182;17477876;17523078;17526942;17538946;17563743;17598981;17606310;17608924;17634119;17668224;17683489;17695396;17698033;17720308;17889669;17899687;17920725;17967182;17994635;18029348;18058812;18071316;18086755;18172292;18182852;18286482;18313166;18322962;18330258;18336597;18337602;18347058;18349282;18358501;18372912;18474619;18494062;18514071;18537155;18538349;18566590;18592002;18616639;18641684;18679651;18691570;18783461;18788633;18799029;18822131;18824877;19024105;19062280;19098985;19118008;19140316;19145506;19148529;19160099;19165202;19172108;19181545;19193434;19221469;19223555;19276349;19326371;19366060;19374895;19450668;19454503;19470737;19473831;19478941;19506903;19509163;19548529;19578875;19637319;19652091;19657672;19686743;19727727;19761124;19795445;19799084;19821102;19854132;19887622;19940364;19957692;19962312;20038516;20042089;20056647;20069457;20075396;20079060;20086174;20140873;20146887;20184324;20193080;20208994;20237496;20360068;20360646;20361264;20453000;20471512;20496080;20497257;20505321;20535589;20562859;20668305;20677556;20697344;20800513;20800603;20842524;20864173;20877461;20955597;21036752;21115918;21134643;21139048;21156971;21199877;21205828;21221769;21274674;21338215;21364923;21450690;21468893;21473137;21473856;21489991;21624251;21643015;21660959;21722812;21788308;21809394;21822036;21838870;21868547;21873787;21874044;21884695;21890473;21900206;21910689;21955482;22139571;22142825;22172412;22195963;22232300;22246327;22266866;22297548;22315090;22332908;22382007;22389451;22394463;22446336;22447862;22520501;22581300;22591718;22615811;22670522;22694820;22695491;22716213;22733432;22766745;23009572;23038753;23055343;23128528;23139773;23147544;23187089;23192464;23319821;23455922;23455924;23526657;23579583;23594797;23705663;23865079;23886171;23887284;23888343;23891693;23891964;23902976;23915220;23979608;23982879;23989600;23990798;24001151;24068440;24073258;24116157;24197116;24247422;24248815;24250222;24253900;24255178;24353088;24383114;24460357;24464006;24505629;24510557;24680815;24732797;24756244 11186 Q9NS23 ABBA01024550;AC002455;AC002481;AF040703;AF061836;AF102770;AF102771;AF102772;AF132675;AF132676;AF132677;AF286217;AF291719;AK292638;AK300994;AMYH02006768;BC110412;BC117153;BC143879;BE247372;BI915594;BI966696;BM152368;BM562405;BQ072763;BT020047;BT020048;CH471055;DQ444319;NG_023270;NM_001206957;NM_007182;NM_170712;NM_170713;NM_170714 AAB67312;AAC16001;AAC70910;AAD44174;AAD44175;AAD44176;AAF35127;AAF35128;AAF35129;AAG10038;AAG10064;AAI10413;AAI17154;AAI43880;AAV38850;AAV38851;ABD97859;BAF85327;BAG62613;EAW65098;EAW65099;EAW65100;EAW65101;EAW65102;NP_001193886;NP_009113;NP_733830;NP_733831;NP_733832;Q9NS23 Hs.476270 1679459;1735190;2154909 D3S2832E;RH91127;SHGC-56838 123F2;NORE2A;RASSF1A;RDA32;REH3P21 OTTHUMP00000195503;OTTHUMP00000195504;OTTHUMP00000195505;OTTHUMP00000195507;Ras association (RalGDS/AF-6) domain family 1;Ras association domain family protein 1;WUGSC:H_LUCA12.5;cardiac-specific ras association domain family 1 protein;pancreas-specific ras association domain family 1 protein;ras association domain-containing protein 1;tumor suppressor protein RDA32 APPROVED protein-coding ENSG00000068028 HGNC:9882 05470 211980;605082 REVIEWED 1605848 RASSF6 Ras association (RalGDS/AF-6) domain family member 6 This gene encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 4 4 4 q13.3 71798579 71846099 - 74437267 74486348 - 73571550 73620631 - 6480464;8554872 12477932;14605870;14702039;15489334;17367779;17404571;18563170;19570220;19797269;21442347;21906983;22430796;22530128;22577168;22695170;23455922;23535732;24003224 166824 Q6ZTQ3 ABBA01022992;AC074250;AI579909;AK002032;AK126346;AMYH02009467;AMYH02009468;AW070877;AW407403;AY217664;AY217665;BC058835;BM923326;BU959014;BX424428;BX957171;CH471057;CR749283;NM_001270391;NM_001270392;NM_177532;NM_201431 AAH58835;AAO61689;AAO61690;BAC86530;CAH18138;EAX05685;EAX05686;NP_001257320;NP_001257321;NP_803876;NP_958834;Q6ZTQ3 Hs.529677 1645049;1649641;1656216;1676164;1679599;1727883;1729321;1787562;2107545;2114955;2123927;5022651 D11S2921;D4S2405;D4S3330;G63358;G64140;RASSF6__6966;RH93658;SHGC-155683;SHGC-50408;SHGC-50410;SHGC-53436;SHGC-67647 DKFZp686K23225 OTTHUMP00000160474;OTTHUMP00000160475;OTTHUMP00000160476;OTTHUMP00000220441;Ras association (RalGDS/AF-6) domain family 6;putative RAS binding protein;ras association domain-containing protein 6 APPROVED protein-coding ENSG00000169435 HGNC:20796 15220 612620 REVIEWED 1602482 RAVER2 ribonucleoprotein, PTB-binding 2 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; copper atom 1 1 1 p31.3 63501670 63589801 + 65210778 65298915 + 64745095 64833232 + 6480464 10997877;12477932;14702039;15489334;16051233;20237496;22146317;22561236;24654937 55225 B4DRE9;E9PE10;Q9HCJ3 AB046799;ABBA01074554;ABBA01074555;ABBA01074556;ABBA01074557;AC093427;AC099678;AK001632;AK058029;AK299228;AL359613;AMYH02001172;BC065303;CH471059;NM_018211;XM_006710738 AAH65303;BAA91798;BAB13405;BAG61261;CAB94883;EAX06549;EAX06550;NP_060681;Q9HCJ3;XP_006710801 Hs.591443 1341650;1656313;1673415;1753649;1763169;1771673;1777110;2153967;2183170 D1S2754;G16069;RH66126;SHGC-107556;SHGC-146900;SHGC-56664;SHGC-74942;SHGC-74945;SHGC-74955 DKFZp762D1011;FLJ10770;KIAA1579 OTTHUMP00000010677;protein raver-2;ribonucleoprotein PTB-binding 2 protein-coding ENSG00000162437 HGNC:25577 11154 609953 VALIDATED 1603914 RAVER1 ribonucleoprotein, PTB-binding 1 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH coumestrol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 p13.2 10322277 10339705 - 10426888 10444314 - 10316212 10333638 - 6480464;8554872 11181995;11724819;11853319;12477932;15302935;15489334;16964243;17081983;17931803;18377426;18781797;19322201;19423540;19523901;19738201;19913121;20360068;20406964;20438785;20628086;20811636;21139048;21252943;21890473;22709580;22751105;22939629;23125841;23390309;23443559;24250222;24332808;24816145 125950 E9PAU2;K7EKR9;K7ERR4;Q8IY67 AB075858;ABBA01029936;AC011511;AC114271;AMYH02035490;BC037428;BC037565;BX401103;CH471106;CR746909;DB446023;NM_133452 AAH37565;BAB85564;EAW84093;EAW84094;EAW84095;NP_597709;Q8IY67 Hs.744952 1744159;1771906;2120642 GDB:433273;RH16014;WI-14289 KIAA1978 protein raver-1;ribonucleoprotein PTB-binding 1 protein-coding ENSG00000161847 HGNC:30296 11484 609950 VALIDATED 1606212 RASSF5 Ras association (RalGDS/AF-6) domain family member 5 This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 179932333 180014065 + 206680866 206762616 + 206507546 206589284 + 6480464;6907045;8554872 11857081;11864565;11965544;11978988;12477932;12676952;12845325;14667507;14702039;15109305;15378027;15489334;15569673;15980887;16344560;16352687;16421102;16516329;16520020;16606445;16710414;16713569;16757334;16892067;17320110;17716979;18211824;18452173;18596699;18616639;19060904;19098985;19118008;19435914;20064523;20237496;20339001;20346707;20379614;20434789;20508983;20562859;20969767;21669874;21988832;22173032;22695170;22750872;23128233;23455922;23538446;23972470;24255178;24722188;24816145;9488663 83593 A8K5F3;Q8WWW0 AB209145;ABBA01010191;AC244034;AF445801;AK056568;AK074115;AK289861;AK291268;AK292039;AL354681;AL591846;AL832784;AY062002;AY062003;AY216268;AY261332;BC004270;BC007203;BC042651;CD367770;CH471100;DA370470;NG_029062;NM_182663;NM_182664;NM_182665 AAH04270;AAH07203;AAH42651;AAL38592;AAL40388;AAL40389;AAO61668;AAP83360;ABM83887;ABM87207;ACE87261;BAB84941;BAD92382;BAF82550;BAF83957;BAF84728;CAI15252;CAI15253;CAI15254;CAI15256;CAI46164;EAW93541;EAW93542;EAW93543;EAW93544;EAW93545;NP_872604;NP_872605;NP_872606;Q8WWW0 Hs.497579 1687175;2146287 D1S3553;RH98662 MGC10823;MGC17344;Maxp1;NORE1;NORE1A;NORE1B;RAPL;RASSF3 OTTHUMP00000034533;OTTHUMP00000034534;OTTHUMP00000034535;OTTHUMP00000034536;Rap1-binding protein;Ras association (RalGDS/AF-6) domain family 5;Ras effector-like protein;new ras effector 1;novel Ras effector 1;ras association domain-containing protein 5;regulator for cell adhesion and polarization enriched in lymphoid tissue;regulator for cell adhesion and polarization enriched in lymphoid tissues;tumor suppressor RASSF3 APPROVED protein-coding ENSG00000266094 HGNC:17609 06117 607020 REVIEWED 7316575 RASSF1-AS1 RASSF1 antisense RNA 1 3 p21.3 50337511 50338300 + 23990798 102060282 ABBA01024550;AC002481;AMYH02006768;KC330992;NR_109831 ANRASSF1 ncrna HGNC:49091 VALIDATED 7245021 RBAK-RBAKDN RBAK-RBAKDN readthrough This locus represents naturally occurring read-through transcription between the neighboring RBAK (RB-associated KRAB zinc finger) and LOC389458 (hypothetical LOC389458) genes on chromosome 7. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Mar 2011] 7 7 5085452 5112854 + 5045821 5073223 + 6480464;8554872 8889548;9847074 100533952 I3L0D1;Q9NYW8 ABBA01039438;AC092032;AMYH02015125;BM684776;BM929719;BU620638;NM_001204513 NP_001191442 Hs.396178 2160617 RH66119 RBAK-LOC389458 RBAK-LOC389458 readthrough protein-coding ENSG00000272968 HGNC:42971 PROVISIONAL 1602691 RBAK RB-associated KRAB zinc finger This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus. [provided by RefSeq, Mar 2011] 7 7 7 p22.1 5044901 5068467 + 5085452 5109119 + 5045821 5069488 + 6480464;8554872 10702291;12070015;12477932;14664718;14702039;16344560;17000644;17121540;18307725;19240061;19284880;20360068;20466629;21549307;24250222 57786 Q9NYW8 ABBA01039438;AC092032;AK093275;AK293069;AL711327;AMYH02015125;BC136675;BC136676;CD238907;CH471144;DB363461;NM_001204456;NM_021163 AAI36676;AAI36677;AAQ93364;BAF85758;EAW87321;NP_001191385;NP_066986;Q9NYW8 Hs.396178 2185064;2217898 RBAK_3666;RH12523 ZNF769;hRBaK OTTHUMP00000149966;OTTHUMP00000200569;OTTHUMP00000200570;RB-associated KRAB repressor;RB-associated KRAB zinc finger protein;zinc finger protein 769 APPROVED protein-coding ENSG00000146587 HGNC:17680 16296 608191 REVIEWED 1606205 RAX2 retina and anterior neural fold homeobox 2 This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3706731 3709853 - 3769087 3772219 - 3769089 3772221 - 6480464;7240710;8554872;8699517 12477932;15028672;20237496 84839 Q96IS3 ABBA01002843;AC005777;AMYH02035262;AY211277;BC007284;BC018709;BC032512;CH471139;NG_011565;NM_032753;XM_005259662 AAH07284;AAH18709;AAH32512;AAP41547;EAW69288;NP_116142;Q96IS3;XP_005259719 Hs.532691 ARMD6;CORD11;MGC15631;QRX;RAXL1 OTTHUMP00000245242;Q50-type retinal homeobox protein;retina and anterior neural fold homeobox like 1;retina and anterior neural fold homeobox protein 2;retina and anterior neural fold homeobox-like protein 1 APPROVED protein-coding ENSG00000173976 HGNC:18286 17508 610362 REVIEWED 1602264 RBAKDN RBAK downstream neighbor (non-protein coding) 7 7 7 p22.1 5071086 5072202 + 5111691 5112854 + 5072060 5073223 + 12477932;17207965 389458 A6NC62 AA292828;AA398766;ABBA01039438;AC092032;AI015600;AMYH02015125;AW138835;BC031661;CH471144;CR745855;HC007108;HG499974;NR_015343 A6NC62;ADQ32827;CBH19359;EAW87319 Hs.733005 2160617;5118093 G64276;RH66119 MGC35170 hypothetical gene supported by bc031661 APPROVED ncrna HGNC:33770 14212 VALIDATED 5135111 RBBP4P1 retinoblastoma binding protein 4 pseudogene 1 5 5 5 p15.2 14820262 14822564 - 14796290 14798594 - 14796181 14798485 - 20562864 642954 ABBA01020639;AC025456;AMYH02010903;NG_008273;NG_023410 RBBP4P pseudo HGNC:42368 INFERRED 5135099 RBBP4P2 retinoblastoma binding protein 4 pseudogene 2 3 3 3 92178559 92179822 - 93794755 93796018 - 94075911 94077174 - 100420527 ABBA01026969;AC130896;AC245469;NG_025601 pseudo HGNC:42369 INFERRED 5135110 RBBP4P4 retinoblastoma binding protein 4 pseudogene 4 6 6 6 p11.2 59081450 59082630 - 58446022 58447202 - 58119744 58120924 - 727842 ABBA01018454;AL390237;AMYH02013788;NG_022304 pseudo HGNC:42371 INFERRED 5135112 RBBP4P3 retinoblastoma binding protein 4 pseudogene 3 6 6 6 p11.2 59776687 59777967 - 57841110 57842390 - 60873363 60874643 - 730180 ABBA01039497;AL512427;AMYH02013785;NG_022302 pseudo HGNC:42370 INFERRED 5509858 RBBP4P6 retinoblastoma binding protein 4 pseudogene 6 5 5 84486445 84486792 - 85190627 85190974 - 100820741 ABBA01062100;AC117522;AMYH02011728;NG_030512 pseudo HGNC:42373 INFERRED 5135106 RBBP4P5 retinoblastoma binding protein 4 pseudogene 5 14 14 14 q11.2 1895291 1897802 + 22031949 22034460 + 21563818 21566329 + 100288451 ABBA01061259;AE000521;AE000658;AMYH02028845;NG_022854 pseudo HGNC:42372 INFERRED 1319644 RB1CC1 RB1-inducible coiled-coil 1 The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009] 8 8 8 q11 49525378 49617590 - 53535018 53627026 - 52622458 52714466 - 1599411;1580863;4889529;6480464;6484113;7240710;8699517;8554872 12068296;20034776 10769033;11850849;12095676;12163359;12221124;12477932;14533007;15375585;15489334;15968549;16043512;16061648;16344560;16865226;17015619;17081983;17353931;17706618;17707572;17986458;18036779;18285457;18443221;18676680;18976975;19170196;19211835;19225151;19258318;19437535;19625176;19690328;19692168;19888451;20301425;20453000;20562859;20614030;21139048;21203526;21241894;21602932;21637919;21717524;21775823;21795712;21822266;21903422;21988832;22049074;22396748;22751121;23043107;23262492;23289756;23602568;23885119;23960084;24100292;24250222;24816145;25040165;7724523;9039502 9821 E5RH44;E5RH63;E5RHX0;E5RJC1;H0YC28;H0YC30;Q8TDY2 AB059622;ABBA01041704;ABBA01041705;ABBA01041706;AC090814;AC113139;AK291699;AK294579;AK307436;AMYH02017976;AMYH02017977;AY173931;BC017556;BC032074;CH471068;D86958;DA326842;KC877236;KC877238;NG_015833;NM_001083617;NM_014781;XM_006716491;XM_006716492;XM_006716493;Z35085 AAH17556;AAO17545;ABM83328;BAA13194;BAB69690;BAF84388;BAG57770;EAW86719;EAW86720;EAW86721;NP_001077086;NP_055596;Q8TDY2;XP_006716554;XP_006716555;XP_006716556 Hs.196102 1648382;1655448;1655450;1660414;1661805;1664767;1669203;1721755;1734078;1852073;1856724;2128392;2133639;2141806;2177377;2180931 A006G21;A007F23;A007F24;D8S1068;D8S1215;D8S1669;D8S2116;G20788;G59745;RH12077;RH25416;RH78347;WI-12431;WI-13801;WI-15400;WI-19524 ATG17;CC1;DRAGOU14;FIP200;PPP1R131 200 kDa FAK family kinase-interacting protein;FAK family kinase-interacting protein of 200 kDa;OTTHUMP00000226290;OTTHUMP00000226291;RB1-inducible coiled-coil protein 1;phosphatase 1, regulatory subunit 131 APPROVED protein-coding ENSG00000023287 HGNC:15574 06019 114480;606837 REVIEWED 1606797 RAX retina and anterior neural fold homeobox This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009] 18 18 18 q21.32 53652123 53658480 - 56934267 56940625 - 59267035 59273393 - 6480464;7240710;8554872;8699517 10625658;10766016;11069920;12477932;14662654;19158959;19397404;20057906;20301552;20494911;21697133;22558175;22736936;9177348 30062 G3V2C8;Q9Y2V3 AB593018;ABBA01056166;ABBA01056167;AC067859;AF115392;AMYH02034825;AMYH02034826;BC051901;CH471096;NG_013031;NM_013435 AAD23438;AAH51901;AAI56202;AAI57123;BAJ83973;EAW63093;NP_038463;Q9Y2V3 Hs.278957 MCOP3;RX OTTHUMP00000163643;retina and anterior neural fold homeobox protein;retinal homeobox protein Rx APPROVED protein-coding ENSG00000134438 HGNC:18662 03530 601881;611038;612067 REVIEWED 1323349 RBBP4 retinoblastoma binding protein 4 This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 1 1 1 p35.1 31385428 31420582 + 33116749 33151812 + 32651148 32686211 + 1580863;6480464;6484113;9585661;9495920 21358755;24880148 10204490;10220385;10220405;10444591;10471499;10471500;10734134;10819992;10866654;10961924;11013263;11102443;11118440;11171972;11238380;11283269;11297506;11302704;11331609;11470869;11602581;11756549;11777905;11784859;11788710;11850410;12091390;12124384;12198550;12351676;12430566;12435631;12453419;12477932;12493763;12628926;12670868;12705869;1286667;12893285;12920132;12943729;14609955;14612411;14645126;14702039;14718166;14966907;15225548;15306854;15385962;15451426;15456747;15489334;15635413;15664198;15701600;15882967;16009940;16091750;16159877;16169070;16196087;16217013;16387653;16429158;16431907;16622419;16728976;16738318;1699755;17065558;17079684;17244783;17255935;17353931;17531812;17616526;17643391;17671431;17803295;17827154;17846119;17974974;18067919;18182442;18247557;18457437;18577416;18781797;19015307;19322201;19394292;19410544;19454010;19644445;19686092;19703393;19734887;19738201;19759913;19862764;19913121;20080577;20123894;20127688;20360068;20388487;20523938;20547755;20562864;20585571;20628086;20671031;20953179;21047798;21081666;21123648;21139048;21182205;21258344;21532573;21653943;21670149;21689726;21890473;21900206;21906983;21907836;21937684;21942715;21963094;21988832;22268729;22407294;22505724;22586326;22751105;22863883;22926524;22939629;23000965;23022380;23178455;23281010;23398456;23402259;23443559;23463506;23602568;23667531;23708667;23752268;23862649;23986399;24239288;24250222;24457600;24583282;24816145;7503932;8125298;8350924;8602529;8858152;9150133;9150135;9427644;9520398;9614144;9651585;9790534;9804427;9885572 5928 B4DRT0;C9JPP3;E9PIC4;E9PND5;E9PNS2;E9PNS6;H0YCT5;H0YDK2;H0YEU5;H0YF10;Q09028 ABBA01023408;ABBA01023409;ABBA01023410;AC114489;AK056356;AK056550;AK222779;AK299251;AK299410;AK312571;AMYH02000717;BC003092;BC015123;BC053904;BC075836;BT007309;CH471059;CQ887963;DC315298;NM_001135255;NM_001135256;NM_005610;X71810;X74262 AAH03092;AAH15123;AAH53904;AAH75836;AAP35973;ABM83425;ABM86638;BAD96499;BAG35466;BAG61282;BAG61392;CAA50685;CAA52321;CAH61602;EAX07513;EAX07514;EAX07515;NP_001128727;NP_001128728;NP_005601;Q09028 Hs.16003 1698268;1770435;2106673;2160465;2165629;2173319;2186489;5015861;5016596;5021872;5022651;5023065;5037552;5091589;7185938 D10S16;D11S2921;D1S1793E;D8S2279;GDB:631802;RH102670;RH16653;RH70422;SHGC-30801;SHGC-57292;SHGC-74547;SYNCOILIN__5360;ha1305;sY3084 CAF-I p48;NURF55;RBAP48;RBBP-4;lin-53 CAF-1 subunit C;CAF-I 48 kDa subunit;MSI1 protein homolog;OTTHUMP00000009691;OTTHUMP00000009734;OTTHUMP00000009735;OTTHUMP00000197566;chromatin assembly factor 1 subunit C;chromatin assembly factor I p48 subunit;chromatin assembly factor/CAF-1 p48 subunit;histone-binding protein RBBP4;nucleosome-remodeling factor subunit RBAP48;retinoblastoma-binding protein 4;retinoblastoma-binding protein p48 APPROVED protein-coding ENSG00000162521 HGNC:9887 04232 602923 REVIEWED 7250308 RBBP6P1 retinoblastoma binding protein 6 pseudogene 1 10 10 10 q22.3 72784609 72785435 + 79497980 79498807 + 77738222 77739049 + 100129156 ABBA01020229;AL731556;AMYH02023383;NG_022184 pseudo HGNC:45108 INFERRED 5128967 RBBP8P1 retinoblastoma binding protein 8 pseudogene 1 X X X 118221085 118222952 - 117766326 117768193 - 118632363 118634230 - 100420552 AL391237;AMYH02040317;AMYH02040318;NG_026754 pseudo HGNC:39583 INFERRED 5128966 RBBP8P2 retinoblastoma binding protein 8 pseudogene 2 13 13 13 8720256 8720992 + 27651355 27652091 + 27077218 27077954 + 100420607 ABBA01035752;AL158062;AMYH02027744;NG_024906 pseudo HGNC:39584 INFERRED 1349258 RBBP9 retinoblastoma binding protein 9 The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [provided by RefSeq, Jul 2008] 20 20 20 p11.2 18541234 18551942 - 18467184 18477899 - 18486540 18497255 - 69955;1580863;6480464 9697699 10449909;11780052;12296629;12477932;12730717;14702039;15489334;18029348;19004028;20080647;21044950;21139048;21689726;21890473;21933118;22430187 10741 O75884 ABBA01054047;AF039564;AF237576;AK023897;AL121893;AL832411;AMYH02036780;BC015938;BC020627;BC026880;CH471133;NM_006606;XM_005260652 AAC63498;AAH15938;AAL83721;ABZ92296;CAI46193;EAX10236;EAX10237;EAX10238;NP_006597;O75884;XP_005260709 Hs.69330 2149473;5016596;5091824 GDB:631802;RH47075;RH48739 BOG;MGC9236;RBBP-10;RBBP-9;RBBP10 B5T overexpressed gene protein;B5T-overexpressed gene protein;OTTHUMP00000030360;putative hydrolase RBBP9;retinoblastoma-binding protein 10;retinoblastoma-binding protein 9;retinoma-binding protein 9 APPROVED protein-coding ENSG00000089050 HGNC:9892 04217 602908 REVIEWED 1323690 RBBP6 retinoblastoma binding protein 6 The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p12.2 23328786 23362062 + 24550866 24584184 + 24539545 24572863 + 1580863;6480464;8554872 12064457;12477932;14702039;15231748;15302935;15475430;15489334;15617101;16051665;16396680;16964243;17081983;17207965;17470788;18624398;18654987;18851979;19454010;19471022;20171287;20184719;20873783;20936779;21139048;21145461;21676486;21706016;21890473;22130672;22139301;22163034;22678362;22779921;22939629;23000965;23251661;23602568;24163370;24816145;8595913;9010216 5930 H3BSK8;H3BUN0;I3L3Y2;Q7Z6E9 AB112074;AB112075;ABBA01017093;AC010321;AF063596;AF116625;AF352051;AK023612;AK026954;AK303040;AL359564;AMYH02031718;AY072922;BC015318;BC029352;BC029649;BC030964;BC051317;BC063524;BC073938;BC101139;BC101140;BC101141;BC101142;BC114353;BC114354;BC118667;BC139830;BF727303;BI489954;BM314442;BX538187;BX648661;CB529116;CD638608;CH471145;NM_006910;NM_018703;NM_032626;X85133;XM_005255461;XM_005255462 AAF71048;AAG43155;AAH15318;AAH29352;AAH63524;AAH73938;AAI01140;AAI01141;AAI01142;AAI01143;AAI14354;AAI14355;AAI18668;AAI39831;AAI72357;AAL05625;AAL68925;ADQ32273;BAB15600;BAC77636;BAC77637;BAG64162;CAA59445;CAB94869;EAW55789;EAW55790;EAW55791;EAW55792;NP_008841;NP_061173;NP_116015;Q7Z6E9;XP_005255518;XP_005255519 Hs.188553 1643722;1645791;1710418;1769717;2181572;2182756 RH48310;RH69978;RH71297;SHGC-61139;SHGC-61177;SHGC-82501 DKFZp686P0638;DKFZp761B2423;MY038;P2P-R;PACT;RBQ-1 E3 ubiquitin-protein ligase RBBP6;OTTHUMP00000122471;OTTHUMP00000122472;RB-binding Q-protein 1;SNAMA;p53-associated cellular protein of testis;proliferation potential-related protein;retinoblastoma-binding Q protein 1;retinoblastoma-binding protein 6;retinoblastoma-binding protein 6, isoform 3 APPROVED protein-coding ENSG00000122257 HGNC:9889 02964 600938 REVIEWED 1353930 RBBP8NL RBBP8 N-terminal like FOUND IN extracellular space 20 20 20 q13.33 57720567 57737891 - 60985293 61002629 - 62410237 62427573 - 11780052;12477932;14702039;15489334;16344560 140893 Q6ZQU4;Q8NC74 ABBA01040086;AK074919;AK128718;AK290299;AL121832;AMYH02037428;AMYH02037429;BC006450;BC033142;BC137326;BC137327;CH471077;CQ782881;DA871775;NM_080833 AAH06450;AAH33142;AAI37327;AAI37328;BAC11293;BAC87589;BAF82988;CAF86109;EAW75362;EAW75363;NP_543023;Q8NC74 Hs.180374 C20orf151;dJ908M14.3 OTTHUMP00000031483;RBBP8 N-terminal-like protein;hypothetical protein LOC140893;uncharacterized protein C20orf151 APPROVED protein-coding ENSG00000130701 HGNC:16144 12751 VALIDATED 731712 RB1 retinoblastoma 1 The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] 13 13 13 q14.2 29932627 30110747 + 48877883 49056026 + 48303747 48481890 + 1580863;2291991;2296051;2299896;2299895;2299055;2299894;2299890;2299893;2299887;2299891;2299888;2299889;6480464;6484113;6907045;7240710;8547986;8547988;8547984;8547990;8547979;8547983;8547989;8554872;8694150;8699517 10022766;11108660;11549509;12402348;12754735;14648178;15312366;15981808;16236519;16510568;17026804;17047088;17096365;17242700;18234283;18383208;19428114;21364977;23315497;24177421 10022926;10026157;10049762;10078201;10082561;10196196;10197586;10198259;10202152;10207050;10220405;10228159;10321733;10330166;10339564;10353443;10359315;10359664;10376528;10393912;10409732;10446990;10486249;10490602;10491434;10499802;10518542;10523633;10613832;10615135;10644764;10647931;10671068;10702291;10721693;10734134;10748174;10778858;10779342;10779361;10783144;10825186;10850422;10866689;10869426;10888886;10938106;10938588;10944455;10958676;11034201;11042686;11073989;11073990;11085541;11090181;11094070;11113200;11126356;11158299;11162467;11254678;11259609;11268000;11283269;11285237;11350943;11358960;11420704;11433299;11447271;11470869;11484059;11500496;11521194;11524739;11533237;11566021;11568901;11571651;11571652;11583618;11583987;11593423;11596110;11668642;11684023;11748221;11788883;11805327;11832063;11839806;11847125;11896613;11900540;11909966;11931757;11940667;11956626;11960384;11964378;11971966;11997511;12016586;12021356;12032846;12036888;12037672;12054658;12065415;12085226;12096339;12096344;12140374;12145697;12153616;12173465;12190313;12197776;12200151;12210730;12241561;12361598;12362308;12374284;12377414;12391156;12391839;12397079;12401721;12419581;12434308;12439743;12450794;12459729;12461781;12466551;12466959;12473678;12475961;12477932;12479814;12499093;12502741;12507935;12508351;12509456;12519773;12525503;12528819;12532331;12532471;12556968;12569181;12588990;12594215;12598654;12621062;12629508;12676926;12682072;12711675;12757710;12761493;12800980;12809602;12845674;12860972;12891711;12944478;12947005;12949733;12963846;12963997;12970441;1352398;1352883;1388726;14506250;14519639;14527418;14533007;14534726;14555653;14585976;14625809;14627988;14631100;14645241;14676836;14681231;14684825;14693709;14722923;14729647;14730602;14732703;14737116;14871261;14966529;15003538;15024056;15044952;15048095;15057823;15084261;15093750;15103018;15105429;15147269;15161658;15162822;15169570;15169919;15173007;15193257;15199152;15210709;15221456;15241418;15264269;15271987;15306814;15308640;1532458;15367600;15367658;15381253;15389561;15389598;15467457;15469703;15469821;15479636;15485814;15485920;15489334;15489336;15492985;15502804;15523694;15538385;15541338;15542589;15547691;15564485;15572661;15577944;15580311;15583032;15619620;15640164;15647383;15647840;15655836;15670817;15671551;15674331;15674338;15677471;15679863;15684604;15701640;15709169;15716956;15731778;15735701;15735762;15741232;15750587;15752352;15763542;15763650;15767262;15776430;15803180;15806172;15809752;15811853;15827088;15828833;15837424;15838894;15878620;15881662;15884040;15922743;15927959;15939381;15949438;15998794;16007129;16020958;16042572;16127685;16186801;16188218;16205627;16205633;16212876;16214886;16249186;16254459;16269091;16273238;16286473;16303160;16306221;16315642;16326706;16332962;16337594;16343421;16352731;16354195;16360038;16368535;16374512;1638634;16388084;16397580;1641004;16458891;16464825;16501607;16510145;16570290;16581787;16595082;16600870;16614728;16616093;16616919;16619045;16627785;16645588;16682076;16682285;16685266;16698799;16764854;16766265;16782892;16816134;16824683;16880741;16912045;16912184;16916716;16935576;16936805;16948516;16962592;16964284;16966377;16984923;16985050;17008050;17012228;17015477;17028578;17031475;17043357;17045206;17053782;17094467;17131485;17145812;17160137;17163992;17182682;17183714;17187060;17216555;17242198;17254966;17274640;17286450;17287852;17297463;17299438;17318405;17332242;17369289;17369843;17380128;17390023;17413032;17428253;17455244;17461478;17490733;17495525;17511743;17517622;17523078;17540172;17549378;17557897;1756735;17576813;17597480;17609271;17616526;17616676;17640669;17642181;17652530;17666433;17671693;17686574;17695524;17702869;17704056;17716930;17804741;17827154;17877762;17880527;17900658;17913706;17913805;17916908;17960112;17963824;17972097;17974914;17977825;17991896;17996702;18000883;18048012;18071317;18073205;18181215;18196971;18211953;18216119;18236071;18239623;18259216;18262051;18281541;18294958;18296270;18305152;18306932;18321963;18332869;18348166;18360108;18381962;18386058;18391203;18431743;18458534;18459177;18477220;18483265;18503160;18546941;1857421;18593909;18624751;18628207;18632617;18677112;18677770;18691182;18694959;18697743;18702872;18755268;18766991;18768921;18779498;18782450;18794045;18794899;18801742;18843795;18948382;18950845;18976938;19058005;19081374;19124506;19130399;19137728;19140325;19141402;19144636;19149898;19152247;19160091;19212661;19223331;19225156;19249677;19258477;19279001;19280657;19351817;19383911;19389926;19390654;19421149;19430707;19458004;19465901;19477924;19497860;19524571;19556322;19556892;19588502;19594747;19597473;19631451;19633425;19640284;19648117;19666944;19723065;19738611;19789190;19802012;19817957;19838216;19863319;19880526;19883508;19903334;19919588;19926638;19950226;20003272;20037816;20041224;20059380;2005966;20082263;20090211;20100483;20140018;20157766;20195357;20223825;20226061;20226085;20237430;20301625;20336668;20362553;20372796;20372802;20379614;20428774;20435627;20447117;20453000;20499310;20503270;20534814;20551165;20558744;20565234;20594292;20596833;20614030;20627193;20628002;20668449;20680651;20680693;20694007;20705054;20713352;20864684;20870719;20871633;20890425;20924203;20940255;20948315;20948316;20948989;20971808;21042734;21048031;21055153;21085491;21099110;21099295;21119616;21139044;21139048;21148318;21203526;21241471;21253829;21278246;21325879;21329664;21387305;21440621;21447152;21470325;21478909;21491492;21493295;21498571;21518927;21558273;21567202;21593597;21602887;21615945;21654082;21663659;21665145;21674866;21689726;21697511;21725359;21740549;21752283;21763628;21809081;21850486;21855804;21875955;21880723;21890473;21900881;21903422;21906983;21952639;21956461;21980403;21988832;21990374;22078878;22084214;22094256;22112645;22157621;22182413;22184068;22203219;22205104;22219649;22262832;22265791;22299668;22310660;22322860;22333593;22366686;22448711;22493456;22505724;22569856;22576742;22586056;22643222;22644489;22692183;22696061;22698402;22701041;22706203;22730229;22733537;22744425;22768064;22787429;22790852;22802529;22874878;22895174;22939629;22955272;22998184;23000965;23022380;23041127;23059827;23108995;23157310;23166591;23178825;23232572;23289805;23301675;23308053;23339186;23359405;23370776;23383595;23408605;23427156;23429261;23438604;23441118;23449391;23498719;23532519;23543736;23595191;23602568;23618872;23670186;23707559;23715307;23752268;23788249;23792446;23832541;23845465;23853093;23859194;23887295;23892435;23900870;23900873;23916291;23932364;23936312;23949216;23967107;23967231;23969248;23981575;23981928;24062075;24078560;24103329;24121271;24135281;24170547;24189068;24231354;24254306;24323028;24324613;24334458;24335704;24347427;24350565;24371076;24485087;24613344;24727455;24771265;24791139;24810223;24816145;24823443;24838394;24913233;25029110;25049398;2594029;2601691;2701949;2717184;2839300;3413073;3480530;3653883;3657987;3823889;7287000;7503932;7525595;7538672;7542657;7558034;7592647;7629134;7664264;7673249;7704558;7724524;7732011;7739537;7756179;7777526;7791904;7795591;7818556;7828850;7838535;7877691;7881418;7902321;7923370;7927327;7935440;7958924;8058329;8152792;8170997;8217609;8230483;8242749;8246996;8255752;8278403;8346196;8346255;8350924;8381715;8384581;8434021;8475068;8490568;8490963;8493578;8552662;8560263;8605116;8626527;8647086;8651278;8657117;8662825;8756624;8756626;8776589;8816797;8816798;8832394;8867812;8870681;8896460;8946919;9003781;9010216;9029153;9053846;9054499;9071815;9125176;9128241;9139732;9140452;9145110;9169441;9178770;9178893;9190208;9199321;9223517;9242374;9256431;9258347;9311732;9312071;9315635;9315663;9343168;9380698;9395244;9400991;9422723;9448006;9453249;9464540;9468139;9468140;9491888;9495340;9501179;9525916;9529249;9545246;9553123;9559293;9566894;9566959;9632747;9632788;9671498;9675141;9697699;9710587;9712901;9721205;9724731;9813067;9819434;9858607;9858615;9885575;9973307;9988677 5925 P06400;Q92728 AB208788;ABBA01051004;ABBA01051005;ABBA01051006;AF043224;AF551763;AK291258;AK299179;AK300284;AK307125;AK307730;AL136960;AL392048;AMYH02028002;AMYH02028003;AMYH02028004;AY124936;AY243567;AY260472;AY429568;AY643840;BC039060;BC040540;CH471075;L11910;L41870;L41890;L41891;L41893;L41894;L41895;L41896;L41897;L41898;L41899;L41904;L41908;L41909;L41910;L41912;L41913;L41914;L41997;L49225;L49231;L49232;M15400;M19701;M27866;M28419;M33647;NG_009009;NM_000321;X16439 AAA53483;AAA53484;AAA60259;AAA65735;AAA65736;AAA65737;AAA65738;AAA65739;AAA65740;AAA65741;AAA65744;AAA65745;AAA65746;AAA65747;AAA65748;AAA65749;AAA69806;AAA69807;AAA69808;AAA82557;AAA82558;AAA82563;AAB59465;AAB59471;AAB59473;AAB59482;AAB59580;AAC26845;AAH39060;AAH40540;AAN41646;AAN64133;AAO62758;AAP39867;AAT66036;ABM82490;ABM85678;BAD92025;BAF83947;BAG61225;BAG62042;CAA34462;EAX08793;EAX08794;NP_000312;P06400 Hs.408528 1334923;1654934;1660218;1689580;1712585;1740887;1740889;1740891;1740991;1741021;1741119;1741595;1741917;1742881;1743537;1743539;1743541;1743543;1743545;1743547;1743549;1743551;1743553;1743555;1743557;1743559;1743561;1743563;1743565;1743567;1743569;1743571;1743573;1744243;1744245;1744777;1744779;1744781;1744791;1744793;1744795;1744797;1744799;1744801;1744803;1744805;1744807;1744809;1744811;1744813;1744815;1744817;1744819;1744821;1744823;1744957;1745699;1745713;1758753;1782962;1789627;1789629;1789631;1789633;1789635;1789637;1789639;1789641;1789643;1789645;1789647;1789649;1789651;1789653;1789655;1789657;1789659;1789661;1789663;1789665;1789667;1789669;1789671;1789673;1789675;1789677;1789679;1789681;1789683;1793048;1796664;2118068;2140629;2145428;2148839;2160508;5120522;5120524;5120526;7187601 A010A01;D10S2288;D13S153;D2Mit39;G35409;GDB:171125;GDB:171126;GDB:171127;GDB:177234;GDB:177381;GDB:177827;GDB:181552;GDB:186839;GDB:213526;GDB:344103;GDB:344106;GDB:344109;GDB:344112;GDB:344115;GDB:344118;GDB:344121;GDB:344125;GDB:344131;GDB:344140;GDB:344144;GDB:344147;GDB:344150;GDB:344155;GDB:344158;GDB:344161;GDB:344164;GDB:344168;GDB:344171;GDB:344175;GDB:344179;GDB:344182;GDB:438527;GDB:438535;GDB:568501;GDB:568504;GDB:568507;GDB:568637;GDB:568643;GDB:568650;GDB:568656;GDB:568670;GDB:568677;GDB:568683;GDB:568695;GDB:568702;GDB:568706;GDB:568727;GDB:568730;GDB:568733;GDB:568736;GDB:568739;GDB:568746;GDB:568749;GDB:583298;GDB:632490;GDB:632620;PMC193706P1;RB1-1;RB1-11;RB1-12;RB1-13;RB1-14;RB1-15;RB1-17;RB1-18;RB1-19;RB1-2;RB1-20;RB1-21;RB1-22;RB1-24;RB1-25;RB1-26;RB1-27;RB1-3;RB1-3UUTF;RB1-4;RB1-5;RB1-7;RB1-8;RB1-9;RB1-UTR1;RB1-UTR2;RB1-UTR3;RB1-UTR4;RB1-UTR5;RB1-UTR6;RB1_249;RH17613;RH17879;RH69055;SHGC-171066;SHGC-5978;SHGC-680 OSRC;PPP1R130;RB;p105-Rb;pRb;pp110 OTTHUMP00000018397;prepro-retinoblastoma-associated protein;retinoblastoma suspectibility protein;retinoblastoma-associated protein APPROVED protein-coding ENSG00000139687 HGNC:9884 01574 109800;180200;182280;259500;614041 REVIEWED 1313612 RBBP5 retinoblastoma binding protein 5 This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010] 1 1 1 q32 178190189 178226378 - 205055270 205091150 - 205086142 205122022 - 1580863;6480464;9479053 22663077 11337467;12477932;12482968;14992727;15199122;15960974;15960975;16253997;16344560;16510874;16510875;16603732;16604156;16712791;17041588;17050672;17081983;17355966;17500065;17761849;17825402;17846119;17925232;17998332;18026121;18082152;18680430;18838538;19047629;19131338;19136632;19187761;19322201;19433449;19556245;20064463;20085832;20093773;20305087;20516061;20574068;20937768;21124902;21139048;21220120;21285357;21502505;21531708;21653943;21884981;21890473;21900206;21903422;22079093;22147691;22231628;22665483;22939629;24026423;24081332;24235145;24368734;24390425;24491801;24680668;24816145;24930734;7558034;8889549 5929 B4DLF8;Q15291 AA235403;ABBA01027430;ABBA01027431;ABBA01027432;AC093422;AK290137;AK296978;AK297540;AL583832;AMYH02002543;AU099032;BC037284;BC053856;BC075059;BC075060;BG392257;BQ020418;CB133829;CD710496;CH471067;DA797022;NM_001193272;NM_001193273;NM_005057;X85134;XM_005245398;XM_005245399;XM_005245400;XM_005245401;XM_006711476;XM_006711477 AAH37284;AAH53856;AAH75059;AAH75060;ABM82131;ABM85314;BAF82826;BAG59520;BAG59939;CAA59446;EAW91536;EAW91537;EAW91538;EAW91539;NP_001180201;NP_001180202;NP_005048;Q15291;XP_005245455;XP_005245456;XP_005245457;XP_005245458;XP_006711539;XP_006711540 Hs.519230 1666026;1683994;1713611;2134317;5015619;5024039;5037552;5118444 AL009343;D11S3114;D11S3316;D16S325;D8S2279;RH120684;RH66579;SHGC-35381 RBBP-5;RBQ3;SWD1 OTTHUMP00000035177;OTTHUMP00000035178;SWD1, Set1c WD40 repeat protein, homolog;retinoblastoma-binding protein 5;retinoblastoma-binding protein RBQ-3 APPROVED protein-coding ENSG00000117222 HGNC:9888 02826 600697 REVIEWED 7245107 RBFADN RBFA downstream neighbor (non-protein coding) 18 18 18 74599753 74611766 + 77827256 77839206 + 80067256 80081304 + 12477932;15146197;8619474;8889548;9110174 100506070 K7EIM0;K7EIS1 ABBA01013902;AC090360;AC139100;AF070628;AMYH02035070;BC016878;BM932115;BX537710;CN288269;LN608683;LN608686;NR_103445 Hs.593610;Hs.744581 5020946;5022578;5022651;5024761;5037552;5118576;7185938 D10S16;D11S2921;D11S3430;D1S1423;D8S2279;L17971;RH36905 ncrna ENSG00000261126 HGNC:48591 VALIDATED 1317354 RBBP8 retinoblastoma binding protein 8 The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008] 18 18 18 q11.2 17326979 17420514 + 20513295 20606451 + 22914121 23026488 + 1580863;6480464;6484113;7240710;8699517;8554872;8661237 24326623 10196224;10449734;10608806;10764811;10779361;10910365;10918303;11313276;11427533;11689934;11739404;11751867;11781686;11959865;12015313;12477932;12925972;14578343;14654780;15084581;15302935;15485915;16189514;16287852;16391231;16581787;16600870;16818604;16843262;17112672;17525340;17525342;17546052;17965729;18007598;18095152;18171670;18171986;18285836;18391951;18676825;18716619;18950845;19202191;19270026;19342888;19357644;19369211;19452558;19584272;19633668;19690177;19702191;20007691;20064462;20301772;20351172;20364137;20546612;20635389;20694014;20829486;20974687;20975951;21052091;21335604;21908405;21988832;21998596;22231403;22544744;22733999;22832221;23333306;23349304;23353824;23416467;23468639;23696749;23994874;24085845;24147044;24196441;24250222;24403251;24440292;24837675;24837676;8076819;9535825;9721205;9738006;9811458 5932 F6Q6H0;I6L8A6;J3KSA4;J3QL00;J3QL93;J3QLH2;J3QLW6;J3QQU9;J3QRM0;J3QSH7;Q99708;V9GZ40 ABBA01022647;ABBA01022648;ABBA01022649;ABBA01022650;ABBA01022651;ABBA01022652;AC091147;AC106033;AF043431;AK292481;AMYH02034405;AMYH02034406;AMYH02034407;AMYH02034408;AMYH02034409;BC001170;BC030590;BG723261;BU187672;BX648221;CH471088;NG_012121;NM_002894;NM_203291;NM_203292;U72066;XM_005258325;XM_005258326;XM_006722519;XM_006722520;XM_006722521;XM_006722522 AAC14371;AAC34368;AAH30590;ABM81882;ABM85045;BAF85170;EAX01143;EAX01144;EAX01145;EAX01146;NP_002885;NP_976036;NP_976037;Q99708;XP_005258382;XP_005258383;XP_006722582;XP_006722583;XP_006722584;XP_006722585 Hs.546282 1335194;1335304;1338512;1658015;2132359;2168632;7186572 D18S78;D18S866;D7S663;RH70701;SHGC-57607;SHGC-58091 COM1;CTIP;JWDS;RBBP-8;RIM;SAE2;SCKL2 CTBP-interacting protein;DNA endonuclease RBBP8;OTTHUMP00000162574;OTTHUMP00000162575;Seckel syndrome 2;retinoblastoma-binding protein 8;retinoblastoma-interacting myosin-like;retinoblastoma-interacting protein and myosin-like;sporulation in the absence of SPO11 protein 2 homolog APPROVED protein-coding ENSG00000101773 HGNC:9891 04990 251255;604124;606744 REVIEWED 732412 RBBP7 retinoblastoma binding protein 7 This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] X X X p22.2 20981704 21007178 - 16862773 16888565 - 16844650 16870411 - 1580863;6480464;6484113;9585661;9495920 21358755;24880148 10220405;10444591;10471499;10471500;10866654;11102443;11118440;11283269;11297506;11394910;11746496;11756549;11784859;11788710;12124384;12435631;12453419;12477932;12493763;12670868;12705869;12920132;14609955;14612411;14645126;14666671;14702039;14981905;15016378;15146197;15451426;15456747;15601853;15635413;15701600;16091750;16344560;16387653;16449650;16622419;16738318;16916647;17079684;17255935;17314274;17573780;17626165;17803295;17846119;18067919;18182442;18285464;18385154;18457437;18571423;18577416;18781797;19394292;19410544;19454010;19471022;19497860;19615732;19644445;19655816;19686092;19703393;19759913;19862764;19913121;2005966;20080577;20127688;20332121;20388487;20523938;20562859;20562864;20628086;20714342;20953179;21081666;21139048;21182205;21228219;21258344;21532573;21670149;21890473;21906983;21937684;21942715;21963094;22118674;22190034;22407294;22505724;22586326;22797925;22863883;22926524;22939629;22990118;23000965;23281010;23443559;23455922;23708667;23752268;24116224;24250222;24438055;24457600;24816145;7503932;9150135;9427644;9651585;9765217;9790534;9804427;9885572 5931 C9J7L0;C9JAJ9;E9PC52;Q16576;Q5JNZ6;Q5JP01;Q5JP02;Q6FHQ0 ABBA01071476;ABBA01071477;ABBA01071478;ABBA01071479;ABBA01071480;ABBA01071481;AK091911;AK127332;AK291567;AK310309;AL929302;AMYH02038932;AMYH02038933;AMYH02038934;AMYH02038935;BC114500;BC114501;BQ775345;CH471074;CN414343;CR541701;DA924163;DB460068;NM_001198719;NM_002893;U35143;X72841 AAC50231;AAI14501;AAI14502;BAF84256;BAG52439;CAA51360;CAG46502;EAW98919;EAW98920;EAW98921;NP_001185648;NP_002884;Q16576 Hs.495755 2168977;2180811;2217900;5015861;5022651;5037552;7185938 D10S16;D11S2921;D8S2279;DXS8320;RBBP7_3854;RH68864 MGC138867;MGC138868;RBBP-7;RbAp46 G1/S transition control protein-binding protein RbAp46;OTTHUMP00000022992;OTTHUMP00000022994;OTTHUMP00000197565;histone acetyltransferase type B subunit 2;histone-binding protein RBBP7;nucleosome-remodeling factor subunit RBAP46;retinoblastoma-binding protein 7;retinoblastoma-binding protein RbAp46;retinoblastoma-binding protein p46 APPROVED protein-coding ENSG00000102054 HGNC:9890 04231 300825 REVIEWED 1320751 RBKS ribokinase This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 2 2 2 p23.3 27849543 27958241 - 28004266 28113223 - 27781364 27890396 - 737633;1580863;6480464;6907045;8554872 12477932 15489334;17585908;20379614;21044950;24250222;8382990 64080 E7EQ18;E9PBU0;H7C091;Q9H477 ABBA01045221;ABBA01045222;ABBA01045223;AC021171;AC110084;AJ404857;AK300989;AMYH02003483;AMYH02003484;AMYH02003485;AY643715;BC017425;BF436282;BX648909;CH471053;NM_001287580;NM_022128 AAH17425;AAT64917;AAY24155;BAG62608;CAC12877;EAX00550;EAX00551;NP_001274509;NP_071411;Q9H477 Hs.11916 1649492;1763543;2151363;2187184 115YB6;D2S2884;RH70389;SHGC-147245 DKFZp686G13268;RBSK 5230400M11Rik;OTTHUMP00000123511 APPROVED protein-coding HGNC:30325 15222 611132 REVIEWED 1603898 RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3 ENCODES a protein that exhibits DNA binding (inferred); nucleic acid binding (inferred); nucleotide binding (inferred); INVOLVED IN mRNA processing (inferred); regulation of alternative mRNA splicing, via spliceosome (inferred); regulation of RNA splicing (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); perikaryon (inferred); INTERACTS WITH (S)-nicotine; all-trans-retinoic acid; 6-propyl-2-thiouracil (ortholog) 17 17 17 q25.3 73683652 74076296 - 77085427 77512230 - 79089345 79611101 - 6480464;8554872 11181995;12477932;14702039;16260614;19713214;20379614;23371454;23512105;23817569;23898728;24039908;24215932;8889548 146713 A6NFN3;J3QQZ2;J3QRF4;K7EJX6;K7EQK7;K7ESF7 ABBA01002890;ABBA01002891;ABBA01002892;ABBA01002893;ABBA01002894;ABBA01002895;ABBA01002896;ABBA01002897;ABBA01002898;ABBA01002899;ABBA01002900;ABBA01002901;AC020689;AC021534;AC055858;AC073624;AC233701;AK054893;AK124644;AK128131;AK293617;AK293905;AMYH02034082;AMYH02034083;AMYH02034084;AMYH02034085;AMYH02034086;BC093713;BM714144;BU741507;BX452143;CH471099;DN990270;KF570271;NM_001082575;XM_006721713;XM_006721714;XM_006721715;XM_006721716;XM_006721717;XM_006721718;XM_006721719 A6NFN3;AAH93713;BAG57077;BAG57290;EAW89563;EAW89564;NP_001076044;XP_006721776;XP_006721777;XP_006721778;XP_006721779;XP_006721780;XP_006721781;XP_006721782 Hs.135229 1335364;1340599;1719455;1722899;1723557;1757003;1762513;1763333;1763629;1763783;1764917;1765453;1765679;1786716;5015619;5016478;5109281;7184453 D11S3114;D17S1806;D17S836;D1S1425;G60544;GDB:434012;RH118599;RH123446;SHGC-144359;SHGC-146329;SHGC-147058;SHGC-147321;SHGC-147456;SHGC-148476;SHGC-148938;SHGC-149119;SHGC-154861 FLJ56884;FLJ58356;FOX-3;FOX3;HRNBP3;NEUN OTTHUMP00000196558;RNA binding protein fox-1 homolog 3;fox-1 homolog C;hexaribonucleotide binding protein 3;hypothetical protein loc146713;neuronal nuclei APPROVED protein-coding ENSG00000167281 HGNC:27097 18730 VALIDATED 1606794 RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 16 16 16 p13.3 6278710 7977033 + 5289469 7763342 + 5239870 7713338 + 6480464;8554872 10814712;11471052;12477932;14702039;16260614;16362037;16537540;16713569;17101796;17503474;18519826;18573872;18794351;18846501;18951430;18978788;19043545;19308021;19414679;19508968;19546859;19567891;19688295;19875103;20153395;20379614;20600896;20724578;20889312;21441570;21890473;22001756;22031302;22184459;22359512;22589738;22730494;23251661;23286373;23350840;23396134;23474815;23583979;23728906;23918370;24002674;24024966;24039908;24290388;24722188 54715 B7Z1U7;F5H0M1;F8VR27;F8VRS4;F8VZG9;F8VZY7;H3BM62;I3L1D4;J3KNW3;Q59HD3;Q9NWB1 AB208826;ABBA01026823;ABBA01026824;ABBA01026825;ABBA01026826;ABBA01026827;ABBA01026828;ABBA01026829;ABBA01026830;ABBA01026831;ABBA01026832;ABBA01026833;ABBA01026834;ABBA01026835;ABBA01026836;ABBA01026837;ABBA01026838;ABBA01026839;ABBA01026840;ABBA01026841;ABBA01026842;ABBA01026843;ABBA01026844;ABBA01026845;ABBA01026846;ABBA01026847;ABBA01026848;ABBA01026849;ABBA01026850;ABBA01026851;ABBA01026852;ABBA01026853;AC005347;AC005364;AC005563;AC005569;AC005737;AC005774;AC006075;AC006112;AC007012;AC007217;AC007222;AC007223;AC009135;AC012175;AC022206;AC023822;AC023829;AC027683;AC074051;AC079410;AC125796;AC131390;AF094849;AF107203;AF109106;AF109107;AF109120;AF229057;AF448859;AK001027;AK293951;AK299664;AL713700;AMYH02031348;AMYH02031349;AMYH02031350;AMYH02031351;AMYH02031352;AMYH02031353;AMYH02031354;AMYH02031355;AMYH02031356;AMYH02031357;AMYH02031358;AMYH02031359;AMYH02031360;AMYH02031361;AMYH02031362;AMYH02031363;AMYH02031364;AMYH02031365;AMYH02031366;AMYH02031367;AMYH02031368;AMYH02031369;AMYH02031370;AMYH02031371;AMYH02031372;AMYH02031373;AMYH02031374;AMYH02031375;AMYH02031376;AMYH02031377;AMYH02031378;AMYH02031379;AMYH02031380;AMYH02031381;AMYH02031382;AMYH02031383;AMYH02031384;BC026312;BC033885;BC113691;BC143816;CH471112;KF456148;KF456152;KF456153;KF495794;KF510420;KJ534926;KJ535000;KJ535001;NG_011881;NM_001142333;NM_001142334;NM_018723;NM_145891;NM_145892;NM_145893;XM_005255379;XM_005255380;XM_005255381;XM_005255382;XM_005255383;XM_005255384;XM_005255385;XM_005255386;XM_005255387;XM_005255388;XM_005255389;XM_005255390;XM_005255391;XM_005255393;XM_005255394;XM_006720896 AAF78291;AAI13692;AAI43817;AAL71904;AAL83405;AAL83406;AAL83407;AAL83408;AAL83409;AAP41925;AHW56566;AHW56640;AHW56641;BAA91472;BAD92063;BAH11633;BAH13094;CAD28499;EAW85216;EAW85217;EAW85218;EAW85219;EAW85220;NP_001135805;NP_001135806;NP_061193;NP_665898;NP_665899;NP_665900;Q9NWB1;XP_005255436;XP_005255437;XP_005255438;XP_005255439;XP_005255440;XP_005255441;XP_005255442;XP_005255443;XP_005255444;XP_005255445;XP_005255446;XP_005255447;XP_005255448;XP_005255450;XP_005255451;XP_006720959 Hs.459842 1334525;1334656;1334777;1334936;1337634;1338252;1338729;1338749;1338912;1340052;1340095;1340857;1653137;1653446;1670820;1674662;1680156;1683195;1689424;1690492;1692008;1695418;1717617;1718385;1724891;1726557;1730231;1736572;1738523;1738701;1738797;1743355;1751201;1755885;1756189;1757455;1762979;1762981;1768397;1771813;1773884;1783412;1783424;1783452;1848970;1852055;1856663;2117074;2133790;2135210;2139428;2139974;2141873;2154962;2155901;2158529;2218164;5117198;7185159;7185488;7186329 A2BP1__4225;AFM225xd2;AFM288zf9;AFM339xg1;AL033655;D16S2564E;D16S2637;D16S2706;D16S2810;D16S2868;D16S2948;D16S3030;D16S3042;D16S3058;D16S3088;D16S3092;D16S3108;D16S3128;D16S3135;D16S3232;D16S3392;D16S418;D16S428E;D16S506;D16S509;D16S743;D21S1249;DXS9719;G29275;G62659;GDB:315385;GDB:451715;RH119210;RH122113;RH122966;RH65158;RH65272;RH79651;SHGC-105112;SHGC-142727;SHGC-143046;SHGC-144833;SHGC-146726;SHGC-146727;SHGC-155063;SHGC-155760;SHGC-2850;SHGC-2880;SHGC-60581;SHGC-60742;SHGC-61136;SHGC-68779;SHGC-83976;STS-R41560;STS-T53018;WI-21447;WI-21917;WI-3725 2BP1;A2BP1;FOX-1;FOX1;HRNBP1 OTTHUMP00000159949;OTTHUMP00000159950;OTTHUMP00000243973;OTTHUMP00000243974;OTTHUMP00000243975;OTTHUMP00000243976;OTTHUMP00000243977;OTTHUMP00000243980;OTTHUMP00000243981;OTTHUMP00000243985;RNA binding protein fox-1 homolog 1;ataxin 2-binding protein 1;ataxin-2-binding protein 1;fox-1 homolog A;fox-1-like RNA-binding protein 1;hexaribonucleotide binding protein 1;hexaribonucleotide-binding protein 1 APPROVED protein-coding ENSG00000078328 HGNC:18222 16091 605104 REVIEWED 732878 RBM10 RNA binding motif protein 10 This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011] X X X p11.23 51199950 51241502 + 47004617 47046214 + 47145218 47186815 + 1580863;6480464;7240710;8554872;8699517 11076863;11230166;11256614;11944989;12477932;14293686;14559993;14702039;15302935;15489336;16169070;16189514;16344560;16381901;16552754;16713569;17081983;17332742;17620599;17707232;18029348;18271526;18315527;18669648;18820371;18854154;19471022;20451169;20462248;20516061;21139048;21145461;21693764;22113938;22268729;22365833;22412018;22751105;23022380;23084401;23184937;23294349;23398456;24000153;24332178;24332808;24337577;24530524;24657165;24816145;25027693;5410571;8125298;8590280;8760884;8808293 8241 P98175;Q7Z3D7 ABBA01052303;ABBA01052304;ABBA01052305;ABBA01052306;ABBA01052307;ABBA01052308;ABBA01052309;ABBA01052310;ABBA01052311;AK000962;AK024839;AK025854;AK098115;AK225175;AK292758;AL137421;AL513366;AMYH02039270;AMYH02039271;AMYH02039272;AW248804;BC000681;BC003089;BC004181;BC008733;BC024153;BX537969;CH471164;D50912;DB183041;NG_012548;NM_001204466;NM_001204467;NM_001204468;NM_005676;NM_152856;U35373;XM_005272677;XM_005272678;XM_005272679;XM_006724563 AAB33572;AAH00681;AAH03089;AAH04181;AAH08733;AAH24153;BAA09471;BAF85447;CAB70731;CAD97933;CAL37951;EAW59283;EAW59284;EAW59285;EAW59286;EAW59287;NP_001191395;NP_001191396;NP_001191397;NP_005667;NP_690595;P98175;XP_005272734;XP_005272735;XP_005272736;XP_006724626 Hs.401509 1702216;1728951;1847317;1856389;5021292 AFM206zf2;D10Bir5;DXS7015E;G26316;sWXD3383 DXS8237E;FLJ40796;GPATC9;GPATCH9;KIAA0122;MGC1132;MGC997;S1-1;TARPS;ZRANB5 OTTHUMP00000023191;OTTHUMP00000023192;RNA-binding motif protein 10;RNA-binding protein 10;RNA-binding protein S1-1;g patch domain-containing protein 9 APPROVED protein-coding ENSG00000182872 HGNC:9896 02095 300080;311900 REVIEWED 1323615 RBFA ribosome binding factor A (putative) INVOLVED IN rRNA processing (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH cobalt dichloride; copper atom; copper(0) 18 18 18 q23 74566839 74583142 + 77794346 77810652 + 80034346 80050652 + 737633;6480464 12477932 14702039;15489334;17207965;20562859;24250222 79863 Q8N0V3 ABBA01013902;AC090360;AF261073;AF439745;AK024825;AK124595;AK311239;AK311463;AMYH02035070;BC014195;BC057772;CH471117;NM_001171967;NM_024805 AAH14195;AAH57772;AAL32051;AAM20740;ADQ31736;BAB15022;EAW66642;EAW66643;EAW66644;NP_001165438;NP_079081;Q8N0V3 Hs.728931 1725491;1789092;2119784;5022578;5091661 A008M11;D1S1423;G65681;RH119142;STS-F04195 C18orf22;FLJ18281;FLJ18505;FLJ21172;FLJ42604;FLJ97160;HsT169 OTTHUMP00000163845;putative ribosome-binding factor A, mitochondrial APPROVED protein-coding HGNC:26120 07959 VALIDATED 5688604 RBM11P1 RNA binding motif protein 11 pseudogene 1 6 6 6 133832628 133833425 + 133085799 133086596 + 132764660 132765457 + 100420213 ABBA01025876;AL032821;AMYH02014503;NG_025978 pseudo HGNC:43743 INFERRED 731853 RBCK1 RanBP-type and C3HC4-type zinc finger containing 1 The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008] 20 20 20 p13 483557 506462 + 388696 411610 + 408065 430966 + 6480464;7800730;8699517;8554872 23085193 10431818;11780052;12477932;12629548;14759258;15489334;15833741;15951569;16083853;16643902;17006537;17069764;17121852;17449468;17682061;17822790;18303026;18711448;18781797;19136968;19277210;19549727;19796170;19953087;20005846;20098747;20103625;20956555;21139048;21292167;21455180;21709223;21811235;21832049;21890473;21903422;21906983;21963094;21987572;22053931;22139374;22430200;22493164;22505724;22517668;22605335;22607974;23000965;23032186;23032187;23042805;23088713;23104095;23105109;23160820;23524849;23708998;23732909;23798481;23818254;23912458;23986494;24722188;24726323;24726327;24816145 10616 A6PVJ5;A6PVJ6;A6PVJ7;A6PVK0;B4DML5;G3XAG9;H0Y4S7;Q5JWR1;Q9BYM8 AB107766;ABBA01053748;ABBA01053749;AK297524;AK309414;AL121747;AMYH02036549;AMYH02036550;BC000983;BC014116;BC015219;BC016301;CH471133;NG_033233;NM_006462;NM_031229;U67322;XM_005260645;XM_005260646;XM_005260649;XR_430266;XR_430267 AAD00162;AAH15219;BAC75409;BAG59927;EAX10673;EAX10674;EAX10675;EAX10677;NP_006453;NP_112506;Q9BYM8;XP_005260702;XP_005260703;XP_005260706 Hs.247280 1647725;1673508;1689516;2184929;2186635 RH17493;RH48717;RH94121;SHGC-34689;STS-T99066 C20orf18;HOIL-1;HOIL1;PBMEI;RBCK2;RNF54;UBCE7IP3;XAP3;XAP4;ZRANB4 HBV associated factor 4;HBV-associated factor 4;OTTHUMP00000029921;OTTHUMP00000029922;OTTHUMP00000196664;OTTHUMP00000196665;RBCC protein interacting with PKC1;RING finger protein 54;heme-oxidized IRP2 ubiquitin ligase 1;hepatitis B virus X-associated protein 4;protein kinase c-binding protein beta15;ranBP-type and C3HC4-type zinc finger-containing protein 1;ubiquitin conjugating enzyme 7 interacting protein 3;ubiquitin-conjugating enzyme 7-interacting protein 3 APPROVED protein-coding ENSG00000125826 HGNC:15864 16643 610924;615895 REVIEWED 1313374 RBL1 retinoblastoma-like 1 The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.2 32333780 32432015 - 35624752 35724403 - 36996349 37096000 - 1580863;6480464;6907045;8694150;8554872 16236519 10022926;10082561;10330166;10376528;10490602;10540350;10766737;10863094;11034201;11313936;11521194;11571651;11573202;11642725;11780052;11799066;11884610;12006580;12096339;12150994;12434308;12439743;12450794;12466551;12477932;12549820;12588981;12621062;12947099;1331501;14555653;14666683;14671316;1532458;15467457;15479636;15489334;15631990;15716956;15735762;15750587;15827088;15939381;16135806;16189514;16286473;16360038;16537896;16600870;16620772;16712791;16943418;17255935;17531812;17563750;17620012;17671431;18086563;1833063;18418057;18799622;19279001;19453261;19738611;20379614;20453000;20663872;21139048;21900206;21903422;21988832;22094256;22157815;22303805;22673945;22729126;23455922;23602568;23853093;7565695;7739537;7760804;7791762;7892279;7935440;7958924;7958925;8076603;8230483;8319904;8622916;8643455;8657117;8798463;8816797;8832394;9242374;9372959;9464541;9472014;9501179;9566894;9697699;9710587;9721205;9724724;9724731;9747874;9858615;9891079;9927208 5933 E9PNB6;H0YE05;P28749 ABBA01006605;ABBA01006606;ABBA01006607;ABBA01006608;ABBA01006609;ABBA01006610;ABBA01006611;AK290380;AK308096;AK310870;AL136172;AL365505;AL391114;AMYH02037042;AMYH02037043;AMYH02037044;BC032247;BQ004524;CB115117;CH471077;L14812;M74547;NM_002895;NM_183404;S78664;XM_006723842 AAA02489;AAA36397;AAD14290;AAH32247;ABM84709;ABM92229;BAF83069;EAW76088;EAW76089;NP_002886;NP_899662;P28749;XP_006723905 Hs.207745 1658254;1662552;1781142;1791802;1792514;1852257;2147407;2217902;5022322;5123833 D11S2560;D20S823;G15936;PMC126057P1;PMC152552P1;RBL1_3855;RH17622;SGC35236;STS-H85528;stdJ621N11SP6 CP107;MGC40006;PRB1;p107 107 kDa retinoblastoma-associated protein;OTTHUMP00000030892;OTTHUMP00000030893;cellular protein 107;retinoblastoma-like 1 (p107);retinoblastoma-like protein 1 APPROVED protein-coding ENSG00000080839 HGNC:9893 00312 116957 REVIEWED 733260 RBL2 retinoblastoma-like 2 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of lipid kinase activity; PARTICIPATES IN cell cycle pathway, mitotic; G1/S transition pathway; transforming growth factor-beta superfamily mediated signaling pathway; FOUND IN cytoplasm; extracellular vesicular exosome; nucleolus; INTERACTS WITH (S)-nicotine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 16 16 16 q12.2 37983164 38040371 + 53468351 53525560 + 53434439 53491648 + 1580863;6480464;6907045;8694150 16236519 10022926;10330166;10376528;10449734;10490602;10766737;10969803;11034201;11042686;11042701;11157749;11319226;11521194;11571651;11573202;11642725;11756542;11799066;11959842;12006580;12096339;12196924;12386819;12434308;12435635;12450794;12466551;12474056;12477932;12549820;12588981;12621062;12637156;12717421;12789259;12789260;12915404;12968030;1331501;13679860;14534545;14587097;14671316;15059924;15077161;15103018;15131049;15161709;15231644;15271987;15467457;15479636;15577944;15696973;15735762;15750587;15827088;15861133;15939381;15949438;16135806;16286473;16344560;16364039;16397580;16458891;16537896;16600870;16760287;16776654;16936753;16936755;17159899;17485552;17531812;17620057;17671431;17694957;17905135;18029348;18086563;18321970;18418057;18446820;18676747;19056867;19074885;19252413;19279001;19322201;19453261;19597825;19648966;19668264;19694314;19725879;19738611;20009087;20071580;20189212;20211142;20406986;20800603;21127431;21325284;21411531;21511729;21516817;21813705;21890473;21903422;22094256;22595804;23108140;23370776;23377830;23443559;23455922;23602568;24045973;24189068;24250222;7760804;7892279;8247552;8253383;8253384;8361765;8643454;9178770;9188854;9242374;9464541;9472014;9566894;9697699;9710587;9721205;9724731;9747874;9819434;9858615;9891079 5934 F5H837;J3KSF7;Q08999 ABBA01066495;AC007342;AK129969;AK300047;AK304283;AK307881;AMYH02032046;AMYH02032047;BC034490;BX537767;CH471092;DB017942;NM_005611;S67171;U53220;X74594;X76061;XM_005256083 AAB29227;AAC50479;AAH34490;BAG61857;BAH14149;CAA52671;CAA53661;CAD97830;EAW82801;EAW82802;NP_005602;Q08999;XP_005256140 Hs.513609 1648099;1677222;1775104;1796666;2129224;2164167;2167151;2173690 D16S2536E;G19455;RBL2_1295;RH65767;RH66716;RH68342;RH75186;SHGC-60585 FLJ26459;P130;PRB2;RBR-2;Rb2 130 kDa retinoblastoma-associated protein;OTTHUMP00000164255;retinoblastoma-like protein 2;retinoblastoma-related protein 2 APPROVED protein-coding ENSG00000103479 HGNC:9894 01576 180203 VALIDATED 1343633 RBM12 RNA binding motif protein 12 This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5' UTR results in four transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010] 20 20 20 q11.21 30985171 31001132 - 34236847 34252878 - 35648925 35664956 - 1580863;6480464;8554872 11435693;11780052;12168954;12421765;12477932;14702039;15144186;15489334;16120600;16196087;16344560;17081983;18029348;18831769;19738201;21139048;21693764;21890473;22446626;22863883;22939629;23000965;24250222;24816145;25027693;9853615;9872452 10137 A6PVI0;A6PVI1;Q5JX62;Q9NTZ6 AA481034;AA825305;AB015336;AB018308;ABBA01019152;AF345332;AF345335;AF393214;AI086083;AI376995;AJ289772;AK026963;AK074945;AK092239;AK299371;AL109827;AL833222;AL834472;AMYH02037005;BC012787;BC013981;CD109659;CH471077;DA319853;DB060608;NM_001198838;NM_001198840;NM_006047;NM_152838 AAH12787;AAH13981;AAL83752;AAL83755;AAM73682;ABM84419;ABM87436;BAA34485;BAA34794;BAG52036;BAG52504;BAG61361;CAC20441;CAD39131;CAH10603;CAI20134;EAW76182;EAW76184;EAW76188;NP_001185767;NP_001185769;NP_006038;NP_690051;Q9NTZ6 Hs.700188 1653389;1754105;1760243;1772220;1801110;1801228;1801690;1801806;1802280;1802940;1803586;1803864;1804670;1805762;1806228;1807260;1807726;1808078;1813860;1832550;1836800;1975394;1975396;1975398;1975400;1975402;1975404;1975406;1975408;1975410;1975412;1975414;1975416;1975418;1975420;1975422;1975424;1975426;1975428;1975430;1975432;1975434;1975436;1975438;1975440;1975442;1975444;1975446;1975448;1975450;1975452;1975454;1975456;1975458;1975460;1975462;1975464;1975466;1975468;1975470;1975472;1975474;1975476;1975478;1975480;1975482;1975484;1975486;1975488;1975490;1975492;1975494;1975496;1975498;1975500;1975502;1975504;1975506;1975508;1975510;1975512;1975514;1975516;1975518;1975520;1975522;1975524;1975526;1975528;1975530;1975532;1975534;1975536;1975538;1975540;1975542;1975544;1975546;1975548;2124933;2158452;2172311;2215544;2215546;2215548;2215550;2215552;2215554;2215556;2215558;2215560;2215562;2215564;2215566;2215568;2215570;2215572 A002R21;D20S1111;ECD01424;ECD01486;ECD01724;ECD01784;ECD02024;ECD02360;ECD02695;ECD02844;ECD03267;ECD03832;ECD04069;ECD04598;ECD04836;ECD05017;ECD07956;ECD17415;ECD19564;REN58583;REN58584;REN58585;REN58586;REN58587;REN58588;REN58589;REN58590;REN58591;REN58592;REN58593;REN58594;REN58595;REN58596;REN58597;REN58598;REN58599;REN58600;REN58601;REN58602;REN58603;REN58604;REN58605;REN58606;REN58607;REN58608;REN58609;REN58610;REN58611;REN58612;REN58613;REN58614;REN58615;REN58616;REN58617;REN58618;REN58619;REN58620;REN58621;REN58622;REN58623;REN58624;REN58625;REN58626;REN58627;REN58628;REN58629;REN58630;REN58631;REN58632;REN58633;REN58634;REN58635;REN58636;REN58637;REN58638;REN58639;REN58640;REN58641;REN58642;REN58643;REN58644;REN58645;REN58646;REN58647;REN58648;REN58649;REN58650;REN58651;REN58652;REN58653;REN58654;REN58655;REN58656;REN58657;REN58658;REN58659;REN58660;RH66098;SHGC-132138;SHGC-132544;SHGC-35711;WI-14831;stSG636767;stSG636768;stSG636769;stSG636770;stSG636771;stSG636772;stSG636773;stSG636774;stSG636775;stSG636776;stSG636777;stSG636778;stSG636779;stSG636780;stSG636781 HRIHFB2091;KIAA0765;SWAN OTTHUMP00000030766;OTTHUMP00000062717;OTTHUMP00000062718;OTTHUMP00000062719;OTTHUMP00000196685;OTTHUMP00000196686;RNA-binding motif protein 12;RNA-binding protein 12;SH3/WW domain anchor protein in the nucleus APPROVED protein-coding ENSG00000244462 HGNC:9898 06212 607179 REVIEWED 1323505 RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2 This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 19937385 20227179 - 36134783 36424679 - 35738736 36028631 - 1580863;6480464;8554872 10591208;11401487;11875103;12477932;12529303;14702039;15461802;15489334;16189514;16260614;16344560;16537540;16713569;17289029;17715393;18029348;18573872;18573884;18794351;19060904;19136955;19322201;20131247;20211142;20936779;21139048;21145461;21747913;21876675;21890473;21988832;22083953;22365833;22666429;23143756;23149937;23275563;23383273;24048253;24332808;24457600 23543 B0QYV1;B0QYY4;B0QYY6;B0QYY7;O43251;S4R3K7;S4R469 AB649123;ABBA01055426;ABBA01055427;AC239364;AF229058;AK055213;AK057055;AK091398;AK091695;AK130730;AK291460;AK314632;AL009266;AL049748;AL079295;AL832604;AM419009;AMYH02038310;AMYH02038311;AMYH02038312;AY072786;AY960684;BC013115;BC025281;CH471095;CR456559;DA493176;DB461443;DQ778625;KF457428;KF510602;KF510603;KF511452;NG_029628;NM_001031695;NM_001082576;NM_001082577;NM_001082578;NM_001082579;NM_014309;XM_005261428;XM_005261429;XM_005261430;XM_005261431;XM_005261432;XM_005261433;XM_005261435;XM_005261437;XM_006724185;XM_006724186;XM_006724187;XM_006724188;XM_006724189;XM_006724190;XM_006724191;XM_006724192;XM_006724193;XM_006724194;Z82217;Z95114 AAH13115;AAH25281;AAL67150;AAL71905;AAX84843;ABG77459;ABM82646;ABM85823;ABM85824;BAB70875;BAF84149;BAK53481;CAA15842;CAG30445;CAK54590;CAK54889;CAL91352;EAW60072;EAW60073;EAW60074;EAW60075;EAW60076;EAW60077;EAW60078;EAW60079;NP_001026865;NP_001076045;NP_001076046;NP_001076047;NP_001076048;NP_055124;O43251;XP_005261485;XP_005261486;XP_005261487;XP_005261488;XP_005261489;XP_005261490;XP_005261492;XP_005261494;XP_006724248;XP_006724249;XP_006724250;XP_006724251;XP_006724252;XP_006724253;XP_006724254;XP_006724255;XP_006724256;XP_006724257 Hs.282998 1331587;1335562;1342048;1657857;1667709;1667899;1669956;1675041;1676996;1681227;1689664;1712557;1712755;1730329;1750927;1751627;1753645;1759445;1760315;1772107;2117373;2123860;2129561;2135336;2143388;2146572;2170147;5127933;7190897;7190903 AFMA223VA9;AL008667;AL008671;AL021651;AL022553;D22S1142;D22S1235;D22S1677;D22S277;D22S278;D22S291E;D22S587;D22S971E;HSC2LB072;R75115;RH11177;RH120091;RH17461;RH66280;RH68656;RH99037;SHGC-104667;SHGC-105601;SHGC-107554;SHGC-151199;SHGC-152339;SHGC-170363;WI-21978 FOX2;Fox-2;HNRBP2;HRNBP2;RBM9;RTA;dJ106I20.3;fxh OTTHUMP00000197876;OTTHUMP00000197899;OTTHUMP00000198113;OTTHUMP00000198114;OTTHUMP00000198115;OTTHUMP00000220206;OTTHUMP00000220207;OTTHUMP00000220208;RNA binding motif protein 9;RNA binding protein fox-1 homolog 2;RNA-binding motif protein 9;RNA-binding protein 9;fox-1 homolog B;fox-1 homologue;hexaribonucleotide binding protein 2;hexaribonucleotide-binding protein 2;repressor of tamoxifen transcriptional activity APPROVED protein-coding ENSG00000100320 HGNC:9906 15231 612149 REVIEWED 5013860 RBM14-RBM4 RBM14-RBM4 readthrough This locus represents naturally occurring read-through transcription between the neighboring RBM14 (RNA binding motif protein 14) and RBM4 (RNA binding motif protein 4) genes. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This fusion protein contains RRM and zinc finger domains, and it functions to stimulate transcription in a hormone and receptor-dependent manner. [provided by RefSeq, Nov 2010] 11 11 q 66384053 66413944 + 66616582 66646473 + 6480464 11181995;19416963;20967262;21963094;22505724;24250222;24457600 100526737 Q96PK6 ABBA01024069;ABBA01024070;AMYH02024979;AP001157;AW958943;CH471076;NM_001198845;NM_001198846 EAW74554;NP_001185774;NP_001185775 Hs.523822;Hs.533712 1668668;1668670;1856078 HSCZXF072;RH41917;WI-18671 COAZ;FLJ78260 OTTHUMP00000219042;OTTHUMP00000219048;OTTHUMP00000235631;RBM14/RBM4 fusion;transcriptional coactivator CoAZ APPROVED protein-coding ENSG00000248643 HGNC:38840 VALIDATED 1313079 RBM11 RNA binding motif protein 11 ENCODES a protein that exhibits poly(U) RNA binding; protein homodimerization activity; INVOLVED IN cellular response to oxidative stress; regulation of alternative mRNA splicing, via spliceosome; FOUND IN nuclear speck; nucleoplasm; nucleus; INTERACTS WITH trichostatin A; valproic acid 21 21 21 q11 745717 757944 + 15588466 15600693 + 14216145 14228372 + 1580863;6480464 10830953;12036298;12477932;12909339;14702039;15489334;16189514;16712791;16713569;23503679;8889548 54033 D3DSC2;P57052 ABBA01057083;AC246819;AF130358;AF519623;AK091331;AP001660;AY077695;BC030196;BQ186146;CB153254;CH471079;KC877777;NM_144770;XM_005260996;XM_005260997;XM_005260998;XM_006724017 AAH30196;AAL82535;AAM75350;BAA95545;BAC03638;EAX10060;EAX10061;EAX10062;EAX10063;NP_658983;P57052;XP_005261053;XP_005261054;XP_005261055;XP_006724080 Hs.283828 2109743 RBM11_9774 OTTHUMP00000082971;RNA-binding motif protein 11;putative RNA-binding protein 11;splicing regulator RBM11 protein-coding ENSG00000185272 HGNC:9897 10185 VALIDATED 1343999 RBM15 RNA binding motif protein 15 Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009] 1 1 1 p13 109129118 109136476 + 110881945 110889303 + 110339323 110346681 + 1580863;6480464 11344311;11431691;12477932;14702039;15302935;15489334;15849773;15998806;16129689;16710414;16964243;17001072;17081983;18029348;18667423;18710951;19322201;19471022;19586903;19596686;19615732;21106733;21139048;21252943;21370421;21900206;22174317;22497198;22586326;22927943;22939629;23602568;23667531;24255178;24332808;24457600;24816145 64783 Q96T37 AB209680;ABBA01068390;AF368062;AF368063;AF368064;AI863760;AJ297259;AK022541;AK025596;AL355488;AMYH02001721;AW173262;BC000841;BC006397;BC010891;BC042587;BC047479;BC062316;BC098140;BC103493;BC103507;BC103660;BK005915;CH471122;NM_001201545;NM_022768 AAH06397;AAH47479;AAH62316;AAH98140;AAI03494;AAI03508;AAK54722;AAK54723;AAK54724;BAB14088;BAB15185;BAD92917;CAC38861;CAC38862;DAA05818;EAW56438;EAW56439;EAW56440;NP_001188474;NP_073605;Q96T37 Hs.435947;Hs.708172 1697650;1700320 RH102340;RH103780 FLJ12479;FLJ21943;MGC119584;OTT;OTT1;SPEN OTTHUMP00000013007;RNA-binding motif protein 15;one twenty two protein;one twenty-two;one-twenty two protein 1;putative RNA-binding protein 15 APPROVED protein-coding ENSG00000162775 HGNC:14959 05832 606077 VALIDATED 1321805 RBM14 RNA binding motif protein 14 This gene encodes a ribonucleoprotein that functions as a general nuclear coactivator, and an RNA splicing modulator. This protein contains two RNA recognition motifs (RRM) at the N-terminus, and multiple hexapeptide repeat domain at the C-terminus that interacts with thyroid hormone receptor-binding protein (TRBP), and is required for transcription activation. Alternatively spliced transcript variants encoding different isoforms (with opposing effects on transcription) have been described for this gene. [provided by RefSeq, Oct 2011] 11 11 11 q13.2 63709642 63722994 + 66384053 66397405 + 66616582 66629934 + 6480464 11443112;11790298;12477932;14673176;14702039;15144186;15302935;15489334;15919756;16227627;16344560;16565220;16713569;16878147;16964243;17081983;17337438;18029348;18829545;19322201;19416963;19454010;19585539;19596686;19738201;20211142;20508642;20811636;21081666;21139048;21145461;21182205;21252943;21736557;21906983;21926972;21987572;22178446;22446626;22505724;22623428;22751105;22792062;22797925;22939629;23443559;23602568;23752268;23973329;24250222;24332808;24457600;24583282;24778252;24816145;25027693;8125298;9285794 10432 B8ZZ74;F8WDX3;Q96PK6 AB209007;ABBA01024070;AF080561;AF315632;AF315633;AK021768;AK222830;AMYH02024979;AP001157;BC000488;BC007641;BC023619;BC024260;CH471076;CR749306;DB044990;DQ294957;NG_030394;NM_001198836;NM_001198837;NM_006328 AAC64058;AAH00488;AAH07641;AAH24260;AAK77961;AAK77962;ABB99396;ABZ92033;BAD92244;BAD96550;BAG51046;CAH18161;EAW74552;EAW74553;NP_001185765;NP_001185766;NP_006319;Q96PK6 Hs.533712 1673172;2123221;2141295;2178043;5015404;5020948;5022588 A008Z47;D13S1667;D5S1597E;G35510;L17705;RH47022;SHGC-33744 COAA;DKFZp779J0927;MGC15912;MGC31756;PSP2;SIP;SYTIP1;TMEM137 OTTHUMP00000179145;OTTHUMP00000205221;OTTHUMP00000235629;RNA-binding motif protein 14;RNA-binding protein 14;RRM-containing coactivator activator/modulator;SYT interacting protein;SYT-interacting protein;coactivator activator;paraspeckle protein 2;synaptotagmin-interacting protein;transmembrane protein 137 APPROVED protein-coding HGNC:14219 11485 612409 REVIEWED 1602216 RBM12B-AS1 RBM12B antisense RNA 1 INTERACTS WITH mercury atom; mercury(0) 8 8 8 q22.1 90938400 90939108 + 94752339 94753047 + 93740111 93740819 + 6480464 55472 Q9P1G2 ABBA01037438;AC010834;AF116672;AMYH02018420;NR_027259 AAF71092;Q9P1G2 Hs.192788 1700122;2180220 G31112;RH103674 C8orf39;PRO1905 APPROVED ncrna ENSG00000279331 HGNC:28818 VALIDATED 8553114 RBM17P1 RNA binding motif protein 17 pseudogene 1 9 9 9 p13.1 39401696 39403291 - 39154067 39155662 + 39154070 39155665 + 100133330 ABBA01040077;AL353729;FP700059;NG_009948 pseudo HGNC:50366 INFERRED 1322546 RBM17 RNA binding motif protein 17 This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009] 10 10 10 p15.1 6060328 6088794 + 6130949 6159422 + 6088986 6117459 + 737633;1580863;6480464;6907045;8554872 12477932 12015979;12086596;12234937;14578179;15146197;15489334;16055720;16061639;16189514;16385451;17081983;17207965;17332742;17577209;17589525;17676041;18029348;18337722;18854154;19322201;19454010;19471022;20360068;20410501;21139048;21145461;21319273;21835928;22113938;22190034;22365833;22615491;22990118;23184937;24250222;24388013;24816145;24858692;9731529 84991 H0Y6J6;Q5W009;Q5W010;Q5W011;Q5W012;Q96I25 AA905075;ABBA01034769;AF542550;AK314952;AL157395;AMYH02022053;AMYH02022054;BC007871;BC009064;BC039322;BX648288;CH471072;CN291330;CV570433;NM_001145547;NM_032905 AAH07871;AAH09064;AAH39322;AAQ09533;ADQ32701;BAG37457;EAW86405;EAW86406;EAW86407;EAW86408;EAW86409;EAW86410;EAW86411;NP_001139019;NP_116294;Q96I25 Hs.498548 1718083;1739123;1857631;2139501;2178666;2179174;2179176;5092988;5113183 A009D35;D10S1520;G32453;RH11159;RH122660;RH80691;STS-H58939;STS-R99346;WI-20510 DKFZp686F13131;MGC14439;SPF45 45 kDa-splicing factor;OTTHUMP00000019034;RNA-binding motif protein 17;splicing factor 45;splicing factor 45kDa APPROVED protein-coding ENSG00000134453 HGNC:16944 09501 606935 REVIEWED 9586340 RBM17P4 RNA binding motif protein 17 pseudogene 4 15 15 15 q14 12349534 12351097 - 35590248 35591811 - 35298047 35299610 - 100128974 ABBA01038506;AC107992;AMYH02030189;NG_009947 pseudo HGNC:50369 INFERRED 8553165 RBM17P3 RNA binding motif protein 17 pseudogene 3 9 9 9 p11.2 39401696 39403290 - 43838439 43840031 - 41974358 41975950 + 100132949 CR788268;FP700058;NG_009949 pseudo HGNC:50368 INFERRED 1602033 RBM12B RNA binding motif protein 12B ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH atrazine; formaldehyde; valproic acid 8 8 8 q22.1 90929789 90939285 - 94742798 94753268 - 93731500 93741040 - 6480464 12477932;15489334;17081983;19471022;21078624;21139048;21252943;22895009;22939629;23752268;24250222;24457600;25027693 389677 B9ZVT1;E5RHG1;E5RJ83;E5RJV8;E5RJW8;Q8IXT5 ABBA01037438;AC010834;AMYH02018420;BC039260;CH471060;NM_203390;XM_005250915;XM_005250916;XM_006716556;XM_006716557;XM_006716558 EAW91699;NP_976324;Q8IXT5;XP_005250972;XP_005250973;XP_006716619;XP_006716620;XP_006716621 Hs.606916 1680865;1700122;2128394;2150595;2180220;5015563 G31112;RH103674;RH65020;RH99186;SGC30869;SHGC-34309 MGC:33837 OTTHUMP00000226449;OTTHUMP00000226450;OTTHUMP00000229449;RNA-binding motif protein 12B;RNA-binding protein 12B protein-coding HGNC:32310 14213 VALIDATED 1316618 RBM20 RNA binding motif protein 20 This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014] 10 10 10 q25.2 106135726 106330820 + 112404155 112599227 + 110644397 110839469 + 6480464;7240710;8554872;8699517 19712804;19712805;20301486;20379614;20590677;21846512;22004663;22466703;22561820;23861363;23886709 282996 Q5T481 ABBA01063020;ABBA01063021;ABBA01063022;ABBA01063023;AK302802;AL136368;AL359260;AL512508;AL832084;AMYH02023798;AMYH02023799;AMYH02023800;BX648563;CB044334;EU822950;KF459660;KF459661;NG_021177;NM_001134363 ACF49364;BAG64004;NP_001127835;Q5T481 Hs.116630 1661889;1704484;1706868;1761655;1763623;2141395;2143452;2219610 RBM20__5654;SHGC-145640;SHGC-147317;SHGC-54184;SHGC-80917;SHGC-82989;WI-10472;WI-11215 OTTHUMP00000020478;RNA-binding motif protein 20;RNA-binding protein 20;probable RNA-binding protein 20 APPROVED protein-coding ENSG00000203867 HGNC:27424 613171;613172 REVIEWED 1318980 RBM19 RNA binding motif protein 19 This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009] 12 12 12 q24.21 113881321 114031187 - 114254543 114404176 - 113816738 113966371 - 1580863;6480464;8554872 11230166;11790298;12429849;12477932;12874115;15231748;15489334;15635413;16027046;16344560;17081983;18029348;18519826;18976975;19240061;19471022;19946888;20379614;21139048;22379092;22939629;24250222;24529757;24816145;9734811 9904 H0YIL2;Q9Y4C8 AA594568;AB014582;ABBA01019966;ABBA01019967;ABBA01019968;AC009731;AC073863;AC090669;AI218902;AK291444;AK314606;AL117547;AMYH02027245;AMYH02027246;AMYH02027247;BC004289;BC006137;CH471054;DB096676;KF495751;NM_001146698;NM_001146699;NM_016196 AAH04289;AAH06137;ACE86464;ACE87145;BAA31657;BAF84133;BAG37176;CAB55987;EAW98062;EAW98063;NP_001140170;NP_001140171;NP_057280;Q9Y4C8 Hs.7482 1699224;1709642;1712402;1712504;2139838;2148442;2184428 G54202;G54228;RH103193;SHGC-85184;STS-AA007571;STS-D29101;STS-T25505 DKFZp586F1023;KIAA0682 OTTHUMP00000241779;OTTHUMP00000241780;OTTHUMP00000241781;RNA-binding motif protein 19;probable RNA-binding protein 19 APPROVED protein-coding ENSG00000122965 HGNC:29098 15225 REVIEWED 1349605 RBM22P1 RNA binding motif protein 22 pseudogene 1 18 18 18 q11.2-q12.1 21809253 21810805 - 24998848 25000400 - 27418884 27420436 - 23251661 400645 ABBA01022560;AC068408;AMYH02034466;NG_023396 FLJ45994 pseudo HGNC:31466 INFERRED 8553144 RBM17P2 RNA binding motif protein 17 pseudogene 2 9 9 9 p13.1 39401878 39403286 - 40479769 40481361 + 67211480 67213072 - 642389 AL162233;FP325309;NG_009950 pseudo HGNC:50367 INFERRED 7368626 RBM22P12 RNA binding motif protein 22 pseudogene 12 16 16 16 p11.2 28615473 28616714 - 31692092 31693333 + 31680771 31682012 + 100131641 ABBA01042101;AC074050;AMYH02031856;NG_011573 pseudo HGNC:49207 INFERRED 7383540 RBM22P13 RNA binding motif protein 22 pseudogene 12 16 16 16 p11.2 28432779 28434018 - 31874871 31876110 + 31863550 31864789 + 100130603 ABBA01042104;AC034105;AMYH02031858;NG_011574 pseudo HGNC:49208 INFERRED 5129383 RBM22P2 RNA binding motif protein 22 pseudogene 2 13 13 13 q12 12182767 12184054 - 31113434 31114721 - 30539297 30540584 - 100271871 ABBA01035694;AL353648;AMYH02027799;NG_011578 pseudo HGNC:39695 INFERRED 1314003 RBM22 RNA binding motif protein 22 This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009] 5 5 5 q33.1 146151706 146162023 - 150070352 150080669 - 150690790 150701107 - 737633;1580863;6480464;6907045 12477932 11076863;11230166;11256614;11991638;12477934;14702039;15489334;15489336;15616564;16344560;16381901;17045351;18029348;18482256;19133299;20013661;21139048;21145461;21890473;21906983;22053931;22246180;22365833;22990118;23084401;23752268;24457600;24816145;8681136 55696 E5RHA8;E5RJW4;Q9NW64 ABBA01026273;AC008453;AK001152;AK096728;AK297019;AL136933;AMYH02012462;BC003402;CH471062;DA534416;N23415;NM_018047;XM_005268479 AAH03402;BAA91521;BAG59551;CAB66867;CAL38515;EAW61710;EAW61711;EAW61712;NP_060517;Q9NW64;XP_005268536 Hs.713564 1690111;1740497;1768317;1780976;2126865;2148770;2157864;2163160 D5S2290E;RH45077;RH71418;RH91318;SGC33434;SHGC-37649;STS-AA039284;bac5560T Cwc2;FLJ10290;ZC3H16;fSAP47 OTTHUMP00000224409;OTTHUMP00000224410;RNA-binding motif protein 22;functional spliceosome-associated protein 47;pre-mRNA-splicing factor RBM22;zinc finger CCCH domain-containing protein 16 APPROVED protein-coding ENSG00000086589 HGNC:25503 10186 612430 REVIEWED 5129384 RBM22P4 RNA binding motif protein 22 pseudogene 4 6 6 6 p21 46618422 46619812 + 45065696 45067086 + 45097959 45099349 + 100271870 ABBA01050634;AL138880;AMYH02013674;NG_011575 pseudo HGNC:39697 INFERRED 1316593 RBM18 RNA binding motif protein 18 ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); INTERACTS WITH (-)-demecolcine; 2-methylcholine; atrazine 9 9 9 q33.2 95650145 95675469 - 125001834 125027143 - 122239555 122264864 - 737633;1580863;6480464 12477932 14702039;15164053;15489334;16344560;17567985;20379614;21988832;8889548 92400 Q96H35 ABBA01043710;AK026870;AK057676;AK299625;AK301050;AK310008;AK310807;AL162424;AL389986;AMYH02021586;BC008942;BC019319;BP870502;CA314508;CH471090;DA308339;NM_033117;NR_027125;NR_027126;XM_006717319 AAH08942;AAH19319;BAG51951;BAG61553;BAG62661;EAW87518;EAW87519;NP_149108;Q96H35;XP_006717382 Hs.415842 1682970;2116146;2131601;2150296;2150725 D9S2100;NIB43;RH66041;RH66719;WI-14875 MGC2734 OTTHUMP00000022049;RNA-binding motif protein 18;probable RNA-binding protein 18 protein-coding HGNC:28413 15224 VALIDATED 5129387 RBM22P8 RNA binding motif protein 22 pseudogene 8 X X p11.22 56552283 56553207 - 52501134 52502058 - 100132407 AL772246;NG_011614 pseudo HGNC:39701 INFERRED 5129389 RBM22P11 RNA binding motif protein 22 pseudogene 11 X X X p11.22 56552283 56553207 - 52555922 52556846 + 52526912 52527836 + 100132115 ABBA01048022;AL772246;BX510359;NG_011615 RBM22P8 pseudo HGNC:39704 INFERRED 1350628 RBM15B RNA binding motif protein 15B Members of the SPEN (Split-end) family of proteins, including RBM15B, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009] 3 3 3 p21.2 51403085 51409693 + 51428699 51435339 + 51391268 51397908 + 737633;1580863;6480464 12477932 15302935;15489334;16009940;16129689;17081983;18029348;19336002;19586903;19596686;20811636;21106733;21988832;22939629;24163370;24457600;24515614;24816145;8401585;8889548 29890 Q0VA89;Q8NDT2 AA369886;ABBA01024531;AC092037;AL831838;AMYH02006783;AY545557;BC001367;BC121184;BC139836;BG674080;BI465048;BM980577;CH471055;L13434;NM_013286 AAA72367;AAH01367;AAI21185;AAI39837;AAS50153;ACE86660;ACE87343;CAD38547;EAW65139;NP_037418;Q8NDT2 Hs.118738;Hs.716623;Hs.731737 1671622;1675214;1691138;1778665;1850926;2109415;2112752;2178725;5037674;5091699 D3S2871E;D3S3909;D3S3947;D3S4362;D3S4443;HUMAGCGB_9597;RH41778;RH93354;SHGC-57673;STS-L13434 OTT3;huOTT3 HUMAGCGB;OTTHUMP00000210953;RNA-binding motif protein 15B;chromosome 3p21.1 gene sequence;one twenty two protein 3;one-twenty two protein 3;putative RNA-binding protein 15B APPROVED protein-coding ENSG00000259956 HGNC:24303 11486 612602 VALIDATED 5129404 RBM22P6 RNA binding motif protein 22 pseudogene 6 X X X p11.22 56552277 56553207 - 52228188 52229118 - 52485045 52485975 - 644509 BX088602;BX510359;NG_011579 2177352 L78112 RBM22P10 pseudo HGNC:39699 INFERRED 5129388 RBM22P10 RNA binding motif protein 22 pseudogene 10 X X p11.22 56552277 56553207 - 52270056 52270986 + 100132222 BX088602;NG_011580 pseudo HGNC:39703 INFERRED 5129357 RBM22P3 RNA binding motif protein 22 pseudogene 3 7 7 7 p11.2 67664754 67665784 + 56558300 56559330 + 56490607 56491637 + 9847074 100128867 ABBA01061872;AC092447;AMYH02015759;NG_009406 pseudo HGNC:39696 INFERRED 1317989 RBM26 RNA binding motif protein 26 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN negative regulation of phosphatase activity; INTERACTS WITH benzo[a]pyrene diol epoxide I; paracetamol; trichostatin A 13 13 13 q31.1 60793978 60881186 - 79885962 79980393 - 79311827 79406258 - 6480464 11149944;12477932;14702039;15057823;15489334;15741184;16964243;17081983;17577209;18655026;19389623;19471022;20014019;20379614;20467438;20562859;21139048;21693764;21853274;21890473;22446626;22939629;23275563;24332808 64062 E2PSN0;Q5T8P6 ABBA01021687;ABBA01021688;ABBA01021689;AF116667;AF273052;AK000954;AK024610;AK027339;AK027456;AK027772;AK302871;AK302927;AL139006;AL159974;AL834343;AMYH02028337;AMYH02028338;AMYH02028339;AX775885;BC000791;BC030806;BC041655;BC043240;BC065024;BC111697;BC111739;BX648672;CF994811;CH471093;NM_001286631;NM_001286632;NM_022118;XM_005266491;XM_005266492;XM_005266493;XM_005266494;XM_005266496;XM_005266497;XM_005266498;XM_005266499;XM_005266501;XM_006719855;XM_006719856;XM_006719857;XM_006719858;XM_006719859;XM_006719860 AAF71087;AAG34912;AAH00791;AAH41655;AAI11698;AAI11740;BAB14933;BAB55046;BAB55125;BAG64052;BAG64089;CAD39009;CAE11642;CAI56708;EAW80591;EAW80592;EAW80593;EAW80594;NP_001273560;NP_001273561;NP_071401;Q5T8P6;XP_005266548;XP_005266549;XP_005266550;XP_005266551;XP_005266553;XP_005266554;XP_005266555;XP_005266556;XP_005266558;XP_006719918;XP_006719919;XP_006719920;XP_006719921;XP_006719922;XP_006719923 Hs.558528;Hs.596629;Hs.732265 1706378;1767212;2120529;2154760;2217084;5491511 C13orf10_253;MARC_16477-16478:1019839220:1;RH48610;RH65102;RH65326;SHGC-80758 ARRS2;C13orf10;FLJ20957;MGC133295;MGC133296;PPP1R132;PRO1777;RP11-255E21.1;SE70-2;ZC3H17 CTCL tumor antigen se70-2;OTTHUMP00000018538;OTTHUMP00000018539;RNA-binding motif protein 26;RNA-binding protein 26;acidic rich RS domain containing 2;chromosome 13 open reading frame 10;cutaneous T-cell lymphoma tumor antigen se70-2 protein-coding ENSG00000139746 HGNC:20327 12611 VALIDATED 5130448 RBM26-AS1 RBM26 antisense RNA 1 13 13 13 60881746 60899657 + 79980444 79998471 + 79406309 79424336 + 12477932;14702039 100505538 ABBA01021689;ABBA01021690;AK002196;AL139006;AMYH02028339;BC034812;HG505772;HG505773;HG505774;NR_038991 Hs.600720 1767212;5037552 D8S2279;RH48610 RP11-30E17.3 APPROVED ncrna ENSG00000227354 HGNC:39805 VALIDATED 1352302 RBM23 RNA binding motif protein 23 This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 3232750 3251295 - 23369854 23388396 - 22900645 22919187 - 1580863;6480464;8554872 12477932;12508121;12938929;14702039;15489334;15498874;15694343;16159877;16169070;17081983;17207965;18029348;19946888;21139048;21890473;22094256;22365833;22505724;23383273;23455924;23602568;24250222;8125298 55147 G3V225;G3V2B4;G3V2B6;G3V2H9;G3V3S8;G3V3V3;G3V546;G3V5J5;G3V5V1;G3V5W6;G3V5Y2;G3V5Z6;G3XAP0;H0YJJ3;H0YJN4;Q86U06 ABBA01061290;ABBA01061291;AF087905;AF275678;AK001344;AK125593;AK225792;AK295448;AK303668;AK308055;AK315620;AL132780;AL135998;AL834198;AMYH02028854;AMYH02028855;BC002566;BC024208;BC106012;BX161440;CH471078;CK000110;CK003276;CR457257;NM_001077351;NM_001077352;NM_018107;XM_005267797;XM_005267798;XM_005267799;XM_005267800;XM_005267801;XM_005267802;XM_005267803;XR_245698 AAG24388;AAH02566;AAH24208;AAP97203;ADQ32417;BAA91638;BAG37988;BAG54220;BAH12071;BAH14010;CAD38887;CAD61910;CAG33538;EAW66222;EAW66223;EAW66224;EAW66225;EAW66226;EAW66227;EAW66228;EAW66229;EAW66230;NP_001070819;NP_001070820;NP_060577;Q86U06;XP_005267854;XP_005267855;XP_005267856;XP_005267857;XP_005267858;XP_005267859;XP_005267860 Hs.4997 1648366;1671640;1719237;1767481;2119662;2119966;2132906;5015961 A002Q41;D14S1223;D15S1477;G21627;IB864;RH123339;RH78387;SHGC-32250 CAPERbeta;FLJ10482;MGC4458;PP239;RNPC4 OTTHUMP00000246102;OTTHUMP00000246103;OTTHUMP00000246104;OTTHUMP00000246106;RNA-binding motif protein 23;RNA-binding region (RNP1, RRM) containing 4;RNA-binding region-containing protein 4;coactivator of activating protein-1 and estrogen recep- tors beta;probable RNA-binding protein 23;splicing factor SF2 APPROVED protein-coding ENSG00000100461 HGNC:20155 15227 REVIEWED 5129385 RBM22P5 RNA binding motif protein 22 pseudogene 5 9 9 9 q21.13 49477855 49480137 - 78900784 78903066 - 76285868 76288150 - 100133206 ABBA01033905;AL589653;AMYH02021020;NG_011576;NG_029445 pseudo HGNC:39698 INFERRED 1602128 RBM34 RNA binding motif protein 34 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH (S)-colchicine; 5-aza-2'-deoxycytidine; adenine 1 1 1 q42.3 208537121 208567232 - 235294498 235324571 - 235131183 235161256 - 6480464;8554872 12429849;12477932;15134903;15489334;15635413;16710414;17081983;17207965;18029348;20098747;21139048;22586326;23333304;23602568;23752268;24457600;24778252;24816145;7788527 23029 A2A2V2;H7C5M1;P42696;Q5TCT4 ABBA01033118;ABBA01033119;AK292362;AL133418;AL732292;AMYH02002938;AMYH02002939;BC029451;BQ000441;CB052493;CH471098;D38491;NM_001161533;NM_015014;NR_027762 AAH29451;ADQ32089;BAA07503;BAF85051;EAW70005;EAW70006;EAW70007;NP_001155005;NP_055829;P42696 Hs.535224 1681458;1778571;2155530;5015619;5015961;5022200;5037552 D11S3114;D15S1477;D1S2421;D8S2279;L18426;RH25341;SHGC-76569 KIAA0117 OTTHUMP00000039006;OTTHUMP00000039007;OTTHUMP00000039008;RNA-binding motif protein 34;RNA-binding protein 34 protein-coding ENSG00000188739 HGNC:28965 11065 VALIDATED 1318308 RBM38 RNA binding motif protein 38 ENCODES a protein that exhibits mRNA 3'-UTR binding; mRNA binding; poly(A) RNA binding; INVOLVED IN 3'-UTR-mediated mRNA stabilization; cell cycle arrest; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; FOUND IN cytosol; nucleus; INTERACTS WITH 2-methylcholine; aflatoxin B1; all-trans-retinoic acid 20 20 20 q13.31 52706709 52724603 + 55966454 55984389 + 57391398 57409333 + 1580863;6480464 11780052;12200376;12477932;15489334;17050675;19285943;19817877;20139978;20339536;20457941;21139048;21764855;21906983;21988832;22027593;22214381;22371495;22508983;22710720;22798430;23222517;23300278;23836903;23912475;24142875;24250749 55544 A6NG75;E9PSF1;F6VZ39;Q9H0Z9 ABBA01052925;ABBA01052926;AF432218;AL109955;AMYH02037352;AMYH02037353;BC018711;BE840212;BF371746;BM549757;CH471077;DB504051;DN998561;NM_001291780;NM_017495;NM_183425;X75314;XM_005260445;XM_005260446 AAH18711;AAL99924;ABM82920;ABM86110;CAA53063;EAW75520;EAW75521;EAW75522;NP_001278709;NP_059965;NP_906270;Q9H0Z9;XP_005260502;XP_005260503 Hs.236361 1677877;2159057;5092702 G32274;RH66941;STS-X75314 RNPC1;SEB4B;SEB4D;dJ800J21.2 CLL-associated antigen KW-5;HSRNASEB;OTTHUMP00000031368;OTTHUMP00000210222;OTTHUMP00000210223;OTTHUMP00000233934;RNA-binding motif protein 38;RNA-binding protein 38;RNA-binding region (RNP1, RRM) containing 1;RNA-binding region containing protein 1;RNA-binding region-containing protein 1;ssDNA binding protein SEB4;ssDNA-binding protein SEB4 protein-coding ENSG00000132819 HGNC:15818 15268 612428 VALIDATED 1317276 RBM24 RNA binding motif protein 24 ENCODES a protein that exhibits mRNA 3'-UTR binding (ortholog); INVOLVED IN regulation of mRNA stability (ortholog); regulation of myotube differentiation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 6 6 6 p22.3 18520103 18532397 + 17281739 17294102 + 17281508 17293871 + 6480464;8554872 12477932;14574404;14702039;15342556;15489334;16713569;19817877;21906983;22542470;24356969 221662 A8KAI7;B7Z6B4;B7Z6B7;H0Y8S7;H0YA61;Q9BX46 ABBA01022203;ABBA01022204;AK055391;AK095016;AK129865;AK293052;AK300062;AK300068;AK315856;AL136305;AL832199;AL833156;AMYH02013196;AMYH02013197;AY547318;BC018674;BC040928;BC065748;BC104808;BC104810;BP309176;CH471087;NM_001143941;NM_001143942;NM_153020;XM_005248932 AAI04809;AAI04811;AAS55633;BAB70914;BAC04474;BAF85741;BAF98747;BAH13200;BAH13203;EAW55378;EAW55379;NP_001137413;NP_001137414;NP_694565;Q9BX46;XP_005248989 Hs.519904 1855531;2152431;2219612 D6S1242E;RBM24__5655;STS-N39066 FLJ26355;FLJ30829;FLJ37697;RNPC6;dJ259A10.1 OTTHUMP00000016066;OTTHUMP00000016067;OTTHUMP00000221503;OTTHUMP00000221504;OTTHUMP00000221505;RNA-binding motif protein 24;RNA-binding protein 24;RNA-binding region (RNP1, RRM) containing 6;RNA-binding region-containing protein 6 protein-coding ENSG00000112183 HGNC:21539 15228 VALIDATED 1604982 RBM33 RNA binding motif protein 33 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH 2-methylcholine; amiodarone; atrazine 7 7 7 q36.3 149860791 149997767 + 155437188 155574179 + 155644494 155781485 + 6480464 11181995;12477932;12690205;12853948;14702039;15146197;15342556;15489334;16344560;16751776;17081983;19322201;19596686;20811636;20936779;21139048;21693764;22113938;22939629;24515614;24654937;24816145 155435 A8MTF7;C9J7M3;H0Y3K3;H0Y3K4;H7BXM6;H7C0H2;Q96EV2 ABBA01032389;ABBA01032390;AC009403;AC078834;AC092460;AK055460;AK055645;AK056415;AK301179;AK307515;AL137724;AL832196;AMYH02017137;AMYH02017138;BC011923;BC093947;BC093949;BP373239;CH236954;CH471149;CN402759;DA459140;DA504982;DA947894;DQ587177;KF458642;KF458647;KF458650;NM_053043;XM_005249531;XM_005249532;XM_005249533;XM_005249534;XM_005249535 AAH11923;AAH93947;AAH93949;AAS01989;AAS02026;AAS07551;BAG62764;CAB70894;EAL23911;EAL23912;EAX04539;EAX04540;EAX04541;NP_444271;Q96EV2;XP_005249588;XP_005249589;XP_005249590;XP_005249591;XP_005249592 Hs.591815 1337406;1645452;1646609;1654347;1662454;1670086;1739977;1749199;1790519;2114721;2119964;2126080;2128800;2149586;2152291;2153685;2171763;2175560;2181506;7185134 ATC-P7576;D7S2307;D7S2392;D7S3034;D7S392;D7S550;G09465;G29161;RH11021;RH16482;RH18251;RH45459;RH45482;RH48753;SGC34464;SHGC-110879;SHGC-53753;STS-T84461;WI-18043 DKFZp434D1319;MGC20460;PRR8 OTTHUMP00000196824;RNA-binding motif protein 33;RNA-binding protein 33;hypothetical protein MGC20460;proline rich 8;proline-rich protein 8 protein-coding ENSG00000184863 HGNC:27223 17310 VALIDATED 1350280 RBM3 RNA binding motif (RNP1, RRM) protein 3 This gene is a member of the glycine-rich RNA-binding protein family and encodes a protein with one RNA recognition motif (RRM) domain. Expression of this gene is induced by cold shock and low oxygen tension. A pseudogene exists on chromosome 1. Multiple alternatively spliced transcript variants that are predicted to encode different isoforms have been characterized although some of these variants fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2008] X X X p11.2 53228934 53232902 - 48432741 48439553 + 48574353 48581165 + 1580863;6480464 12477932;15075239;15144186;15489334;15518812;15635413;15772651;15782174;16196087;16552754;18427544;19277990;19734850;19738201;19770690;20727170;21139048;21145461;21209461;21319273;21777469;21955582;21956899;22623428;22805320;22939629;23151878;23565664;23667174;23673116;24380696;24583282;8634703;9245737 5935 P98179;Q9H5V0 AA460548;ABBA01046021;ABBA01046022;ABBA01046023;ABBA01046024;ABBA01046025;ABBA01046026;ABBA01046027;ABBA01046028;ABBA01046029;ABBA01046030;AC115618;AK000859;AK026664;AK289614;AK309137;AMYH02039304;AY203954;BC006825;BI523929;BQ429805;BX647914;CD559009;CH471224;HB645627;NM_006743 AAH06825;AAP34477;BAB15519;BAF82303;CBB98488;EAW50765;EAW50766;EAW50767;EAW50768;NP_006734;P98179 Hs.301404 1645930;1666599;1672911;2128990;2161566;2189371;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;MARC_3075-3076:991936711:1;RH11301;SHGC-31984;SHGC-35486;STS-AA037884;STS-N40932 IS1-RNPL;RNPL OTTHUMP00000025800;OTTHUMP00000025802;RNA binding motif protein 3;RNA-binding motif protein 3;putative RNA-binding protein 3 APPROVED protein-coding HGNC:9900 02067 300027 REVIEWED 1323694 RBM27 RNA binding motif protein 27 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA processing (inferred); FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; valproic acid 5 5 5 q32 141663078 141748705 + 145583113 145668786 + 146203550 146289223 + 1580863;6480464 10718198;12477932;14702039;15372022;15489334;15741184;16964243;18029348;18655026;20379614;21139048;21853274;21890473;22939629;24332808;24654937 54439 Q05DK9;Q9P2N5;U3KPZ7 AB037732;ABBA01026340;ABBA01026341;AC011356;AC091959;AK026358;AK074316;AK128738;AL833706;AMYH02012405;AMYH02012406;AMYH02012407;BC009537;BC029648;BC033524;BX647384;NM_018989;XM_005268466;XM_005268467;XM_005268468;XM_006714787;XR_245858 AAH09537;AAH33524;BAA92549;BAG54723;NP_061862;Q9P2N5;XP_005268523;XP_005268524;XP_005268525;XP_006714850 Hs.61441 1696914;1780572 RH101925;bac51209T ARRS1;KIAA1311;Psc1;ZC3H18 OTTHUMP00000223925;RNA-binding motif protein 27;RNA-binding protein 27;acidic rich RS domain containing 1 protein-coding ENSG00000091009 HGNC:29243 VALIDATED 1322736 RBM28 RNA binding motif protein 28 The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 7 7 7 q32.1 122753554 122787084 - 127950429 127983962 - 128310376 128343908 - 6480464;6907045;7240710;8554872;8699517 11790298;12429849;12477932;12777385;14702039;15489334;15635413;16344560;17081119;18029348;18439547;19471022;19596686;19805454;20231366;21139048;21145461;21182205;21693764;22178446;22586326;22939629;22944692;23752268;24163370;24457600;24778252;24816145;25027693;8125298;8889548 55131 C9JAA9;C9JE21;H7C5G8;Q9NW13 ABBA01057677;AC010655;AC018635;AK001239;AK222716;AK300500;AMYH02016714;BC013889;BU609187;CH236947;CH471070;DA566130;KF510276;NG_015802;NM_001166135;NM_018077;XM_006716042 AAH13889;BAA91575;BAD96436;BAG62214;EAL24314;EAW83643;EAW83644;NP_001159607;NP_060547;Q9NW13;XP_006716105 Hs.274263 2106583;5111592 RBM28__5657;RH94090 FLJ10377 2810480G15Rik;OTTHUMP00000212372;OTTHUMP00000212373;RNA-binding motif protein 28;RNA-binding protein 28 APPROVED protein-coding ENSG00000106344 HGNC:21863 07668 612074;612079 REVIEWED 1604694 RBM43 RNA binding motif protein 43 ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); INTERACTS WITH all-trans-retinoic acid; cadmium dichloride; ethyl methanesulfonate 2 2 2 q23.3 145718988 145732652 - 152104728 152118389 - 151248214 151261875 - 6480464 12477932;14702039;16344560;21139048;22238593;23472165 375287 B8ZZQ2;Q6ZSC3 ABBA01004764;ABBA01004765;AC009311;AC018731;AK127552;AMYH02004977;BC136410;BC136411;BX337439;CH471058;DA658209;NM_198557 AAI36411;AAI36412;BAC87031;EAX11514;NP_940959;Q6ZSC3 Hs.302442 1656647;5014051;5022200;5022651;5037552;5117897 D11S2921;D8S2278;D8S2279;GDB:631813;L18426;WI-11605 C2orf38;FLJ45645 OTTHUMP00000162692;RNA-binding motif protein 43;RNA-binding protein 43 protein-coding ENSG00000184898 HGNC:24790 10992 VALIDATED 1601847 RBM42 RNA binding motif protein 42 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; elemental selenium 19 19 19 q13.12 32833444 32842052 + 36119980 36128587 + 35629078 35637685 + 6480464 12477932;16189514;16713569;19170760;19615732;21139048;21145461;21832049;21890473;22174317;22365833;22939629;23000965;24163370;24816145 79171 K7EML2;K7EP90;K7EQ03;K7ER08;Q9BTD8 ABBA01018751;AC002115;AK301669;AMYH02035986;BC002868;BC004204;BC031682;NM_024321;XM_005259257;XM_005259258 AAB57629;AAH02868;AAH04204;AAH31682;ADZ15351;BAG63142;NP_077297;Q9BTD8;XP_005259314;XP_005259315 Hs.5086 MGC10433 RNA-binding motif protein 42;RNA-binding protein 42 protein-coding ENSG00000126254 HGNC:28117 11303 613232 PROVISIONAL 1625816 RBM44 RNA binding motif protein 44 ENCODES a protein that exhibits protein homodimerization activity (ortholog); FOUND IN cytoplasm (ortholog); intercellular bridge (ortholog); INTERACTS WITH mono(2-ethylhexyl) phthalate (ortholog) 2 2 2 q37.3 232420425 232464485 + 238707032 238751451 + 237798279 237842808 + 6480464 12477932;14702039;16344560;18029348 375316 Q6ZP01;Q8N7S3 ABBA01042596;AC012076;AI885906;AK097730;AK130316;AMYH02006068;BC126111;BX648107;DB087405;NM_001080504;XM_005246075;XM_006712518 AAI26112;AAI56420;BAC05154;BAC85324;NP_001073973;Q6ZP01;XP_005246132;XP_006712581 Hs.607265;Hs.720233 FLJ40411 OTTHUMP00000202786;RNA-binding motif protein 44;RNA-binding protein 44 protein-coding ENSG00000177483 HGNC:24756 VALIDATED 730942 RBM45 RNA binding motif protein 45 ENCODES a protein that exhibits poly(A) RNA binding; RNA binding; INVOLVED IN nervous system development (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; copper(2+) sulfate 2 2 2 q31.2 172580082 172597283 + 178977149 178994383 + 178112422 178129656 + 6480464;8554872 12220514;12477932;15489334;17207965;18029348;19615732;21145461;21906983;22993125;24825905 129831 H7BZE0;H7C476;Q8IUH3 AB036991;ABBA01062241;AC011238;AC011998;AF526533;AK126575;AMYH02005322;BC037837;BC066549;CH471058;NM_152945;XM_005246287;XM_006712261 AAH66549;AAM88417;ADQ31975;BAC16207;EAX11044;EAX11045;EAX11046;NP_694453;Q8IUH3;XP_005246344;XP_006712324 Hs.377257 1777088;2137221;2150300;2190593 EST-CFZ97826;HSC2RB112;SHGC-32837;WI-15842 DRB1;FLJ44612;MGC42237;RB-1 OTTHUMP00000205295;OTTHUMP00000205296;RNA-binding motif protein 45;RNA-binding protein 45;developmentally regulated RNA-binding protein 1;developmentally-regulated RNA-binding protein 1;putative RNA binding protein RB-1 protein-coding ENSG00000155636 HGNC:24468 09927 608888 PROVISIONAL 1602830 RBM46 RNA binding motif protein 46 ENCODES a protein that exhibits nucleic acid binding (inferred); nucleotide binding (inferred); RNA binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cadmium dichloride (ortholog) 4 4 4 q32.1 153033415 153080956 + 155702424 155749965 + 154781272 154828813 + 6480464;8554872 12477932;16344560 166863 D6RF41;Q8TBY0 ABBA01070160;ABBA01070161;AC009567;AK125877;AK302720;AMYH02010338;BC028588;CH471056;DB088314;DB449155;DB527978;HC044665;NM_001277171;NM_001277173;NM_144979;XM_006714119;XM_006714120 AAH28588;ADZ15463;BAG54260;BAG63939;CBH30662;EAX04902;EAX04903;NP_001264100;NP_001264102;NP_659416;Q8TBY0;XP_006714182;XP_006714183 Hs.133095;Hs.745556 1699792 RH103503 CT68;MGC27016 OTTHUMP00000220357;OTTHUMP00000220358;OTTHUMP00000220359;RNA-binding motif protein 46;cancer/testis antigen 68;probable RNA-binding protein 46 protein-coding ENSG00000151962 HGNC:28401 14517 VALIDATED 1320763 RBM39 RNA binding motif protein 39 This gene encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in both steroid hormone receptor-mediated transcription and alternative splicing, and it is also a transcriptional coregulator of the viral oncoprotein v-Rel. Multiple transcript variants have been observed for this gene. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Aug 2011] 20 20 20 q11.22 31039826 31078484 - 34291531 34330258 - 35703609 35742336 - 1580863;6480464 11704680;11780052;12477932;14667819;15635413;15694343;15747776;15798186;16051665;16159877;16196087;17081983;17332742;17342744;17361185;17567994;17643375;18029348;18258596;18559666;18753212;19342371;19381943;19454010;19471022;19596686;20020773;20360068;20508642;20515076;21081666;21139048;21145461;21182205;21252943;21385873;21551269;21670149;21832049;21890473;21906983;21907836;21963094;21987572;22009261;22053931;22174317;22354994;22365833;22505724;22586326;22711543;22939629;22990118;23000965;23084401;23254330;23277564;23602568;24332808;24457600;24550385;24583282;24643682;24795046;24816145;25027693;8227358;9417904 9584 A8MYG5;B4DRA0;E1P5S2;F2Z2Z5;F2Z3E6;F8WF24;F8WF73;G3XAC6;H0Y4X3;H0Y6I9;H7BZG3;Q14498;Q5QP21;Q5QP22;Q5QP23 ABBA01019150;ABBA01019151;AK126158;AK130283;AK297520;AK299165;AK299678;AK303910;AL357374;AL833168;AMYH02037006;BC008204;BC107886;BC131543;BC141835;BC158172;BI460666;BX537770;BX640714;BX640812;C75555;CH471077;CR749443;DC346351;DQ656052;L10910;L10911;NG_029955;NM_001242599;NM_001242600;NM_004902;NM_184234;NR_040722;NR_040723;NR_040724;U92990;XM_006723890;XM_006723891;XM_006723892;XM_006723893 AAA16346;AAA16347;AAI31544;AAI41836;AAI58173;BAG54289;BAG61212;BAG61586;BAG64839;BAH12603;CAD97833;CAE45833;CAE45890;CAH18281;EAW76159;EAW76160;EAW76161;EAW76162;EAW76163;EAW76164;EAW76165;EAW76166;EAW76167;NP_001229528;NP_001229529;NP_004893;NP_909122;Q14498;XP_006723953;XP_006723954;XP_006723955;XP_006723956 Hs.282901 1676136;1676832;1678373;1740869;1745939;1799780;1801692;1802166;1802476;1803180;1805830;1809058;1810520;1812220;1812344;1812618;1814534;1815518;1817050;1817838;1818270;1818348;1820330;1821840;1822428;1824934;1829816;1829868;1830170;1830424;1830774;1833850;1834380;1834382;1836038;1837796;1837850;1840628;1841306;1842094;1843518;1845008;1845766;1858606;1975786;1975788;1975790;1975792;1975794;1975796;1975798;1975800;1975802;1975804;1975806;1975808;1975810;1975812;1975814;1975816;1975818;1975820;1975822;1975824;1975826;1975828;1975830;1975832;1975834;1975836;1975838;1975840;1975842;1975844;1975846;1975848;1975850;1975852;1975854;1975856;1975858;1975860;1975862;1975864;1975866;1975868;1975870;1975872;1975874;1975876;1975878;1975880;1975882;1975884;1975886;1975888;1975890;1975892;1975894;1975896;1975898;1975900;1975902;1975904;1975906;1975908;1975910;1975912;1975914;1975916;1975918;1975920;1975922;1975924;1975926;1975928;1975930;1975932;1975934;1975936;1975938;1975940;1975942;1975944;1975946;1975948;1975950;1975952;1975954;1975956;1975958;1975960;1975962;1975964;1975966;1975968;1975970;1975972;1975974;1975976;1975978;1975980;1975982;1975984;1975986;1975988;1975990;1975992;1975994;1975996;1975998;1976000;1976002;1976004;1976006;1976008;1976010;1976012;1976014;1976016;1976018;1976020;1976022;1976024;1976026;1976028;1976030;1976032;1976034;1976036;1976038;1976040;1976042;1976044;1976046;1976048;1976050;1976052;1976054;1976056;1976058;1976060;1976062;1976064;1976066;1976068;1976070;1976072;1976074;1976076;1976078;1976080;1976082;1976084;1976086;1976088;1976090;1976092;1976094;1976096;1976098;1976100;1976102;1976104;1976106;1976108;1976110;1976112;1976114;1976116;1976118;1976120;1976122;1976124;1976126;1976128;1976130;1976132;2179210;2191299;2215626;2215628;2215630;2215632;2215634;2215636;2215638;2215640;2215642;2215644;2215646;2215648;2215650;2215652;2215654;2215656;2215658;2215660;2215662;2215664;2215666;2215668;2215670;2215672;2215674;2215676;2215678;2215680;2215682;2215684;2215686;2215688;5022200;5022588 D19S1033;D5S1597E;ECD00744;ECD01725;ECD01965;ECD02124;ECD02481;ECD03866;ECD05516;ECD06253;ECD07117;ECD07179;ECD07319;ECD08297;ECD08795;ECD09574;ECD09973;ECD10192;ECD10231;ECD11240;ECD12006;ECD12302;ECD13566;ECD16041;ECD16067;ECD16218;ECD16346;ECD16523;ECD18071;ECD18338;ECD18339;ECD19180;ECD20068;ECD20095;ECD21504;ECD21849;ECD22250;ECD22968;ECD23720;ECD24102;ECD24504;G64285;L18426;MARC_17207-17208:1023890900:1;REN58781;REN58782;REN58783;REN58784;REN58785;REN58786;REN58787;REN58788;REN58789;REN58790;REN58791;REN58792;REN58793;REN58794;REN58795;REN58796;REN58797;REN58798;REN58799;REN58800;REN58801;REN58802;REN58803;REN58804;REN58805;REN58806;REN58807;REN58808;REN58809;REN58810;REN58811;REN58812;REN58813;REN58814;REN58815;REN58816;REN58817;REN58818;REN58819;REN58820;REN58821;REN58822;REN58823;REN58824;REN58825;REN58826;REN58827;REN58828;REN58829;REN58830;REN58831;REN58832;REN58833;REN58834;REN58835;REN58836;REN58837;REN58838;REN58839;REN58840;REN58841;REN58842;REN58843;REN58844;REN58845;REN58846;REN58847;REN58848;REN58849;REN58850;REN58851;REN58852;REN58853;REN58854;REN58855;REN58856;REN58857;REN58858;REN58859;REN58860;REN58861;REN58862;REN58863;REN58864;REN58865;REN58866;REN58867;REN58868;REN58869;REN58870;REN58871;REN58872;REN58873;REN58874;REN58875;REN58876;REN58877;REN58878;REN58879;REN58880;REN58881;REN58882;REN58883;REN58884;REN58885;REN58886;REN58887;REN58888;REN58889;REN58890;REN58891;REN58892;REN58893;REN58894;REN58895;REN58896;REN58897;REN58898;REN58899;REN58900;REN58901;REN58902;REN58903;REN58904;REN58905;REN58906;REN58907;REN58908;REN58909;REN58910;REN58911;REN58912;REN58913;REN58914;REN58915;REN58916;REN58917;REN58918;REN58919;REN58920;REN58921;REN58922;REN58923;REN58924;REN58925;REN58926;REN58927;REN58928;REN58929;REN58930;REN58931;REN58932;REN58933;REN58934;REN58935;REN58936;REN58937;REN58938;REN58939;REN58940;REN58941;REN58942;REN58943;REN58944;REN58945;REN58946;REN58947;REN58948;REN58949;REN58950;REN58951;REN58952;REN58953;REN58954;RH67917;RH69003;RH92481;STS-R02552;stSG636808;stSG636809;stSG636810;stSG636811;stSG636812;stSG636813;stSG636814;stSG636815;stSG636816;stSG636817;stSG636818;stSG636819;stSG636820;stSG636821;stSG636822;stSG636823;stSG636824;stSG636825;stSG636826;stSG636827;stSG636828;stSG636829;stSG636830;stSG636831;stSG636832;stSG636833;stSG636834;stSG636835;stSG636836;stSG636837;stSG636838;stSG636839 CC1.3;DKFZp781C0423;FLJ44170;HCC1;RNPC2;fSAP59 CAPER;CAPER alpha;CAPERalpha;OTTHUMP00000030794;OTTHUMP00000030795;OTTHUMP00000063388;OTTHUMP00000196683;OTTHUMP00000198911;OTTHUMP00000198912;OTTHUMP00000198913;RNA-binding motif protein 39;RNA-binding protein 39;RNA-binding region (RNP1, RRM) containing 2;RNA-binding region-containing protein 2;coactivator of activating protein-1 and estrogen receptors;functional spliceosome-associated protein 59;hepatocellular carcinoma protein 1;splicing factor CC1.3;splicing factor HCC1 APPROVED protein-coding ENSG00000131051 HGNC:15923 09201 604739 REVIEWED 7242163 RBM43P1 RNA binding motif protein 43 pseudogene 1 3 3 3 p14.1 69446970 69449076 - 69519576 69521682 - 69470425 69472531 - 100131568 ABBA01030905;AC112212;AMYH02007022;NG_009048 pseudo HGNC:46024 INFERRED 6484107 RBM48P1 RNA binding motif protein 48 pseudogene 1 4 4 4 q28.1 124863945 124865083 + 127484790 127485928 + 126563635 126564773 + 132817 ABBA01044786;AC097528;AMYH02010058;NG_022076 pseudo HGNC:44054 INFERRED 1315765 RBM4 RNA binding motif protein 4 ENCODES a protein that exhibits miRNA binding; mRNA binding; poly(A) RNA binding; INVOLVED IN cap-independent translational initiation; IRES-dependent translational initiation; negative regulation of translation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; cytoplasmic stress granule; nuclear speck; INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; arsenite(3-) 11 11 11 q13 63731742 63740539 + 66406088 66435856 + 66638617 66668385 + 6480464;8554872 11790298;12469345;12477932;12508107;12628928;14702039;15159402;15231748;15489334;15592455;16260624;16344560;16777844;16907643;16934801;17284590;18276110;18708123;18723113;19416963;19471022;19561594;19738201;19801630;21139048;21145461;21518792;21562054;21890473;21926972;21963094;21987572;22365833;22505724;22623428;22939629;23000965;23527094;23667531;23897118;24332808;24389249;24457600;8125298;8889548;9169144 5936 D6R9K7;E9PB51;J3QRR5;Q9BWF3 ABBA01024068;ABBA01024069;AF087999;AK094046;AK097592;AK225071;AK303984;AL832566;AMYH02024979;AP001157;AW575232;BC000307;BC021120;BC032735;BC064960;CB242056;CH471076;DA046115;DC366746;HG503892;HG503893;NM_001198843;NM_001198844;NM_002896;U89505 AAC51293;AAH00307;AAH21120;AAH32735;AAH64960;ABZ92531;BAG53492;BAG64902;CAH10593;EAW74555;EAW74556;NP_001185772;NP_001185773;NP_002887;Q9BWF3 Hs.523822;Hs.728823 1668668;1668670;1856078;2108413;2163274;2185004;2186814;5016781;5022651 D11S2921;HSCZXF072;RBM4_8587;RH41917;RH46373;SHGC-56674;SHGC-67307;WI-18402;WI-18671 DKFZp547K0918;FLJ36727;LARK;MGC75138;RBM4A;RP11-658F2.8;ZCCHC21;ZCRB3A;hLark OTTHUMP00000205224;OTTHUMP00000205225;OTTHUMP00000205226;OTTHUMP00000219043;OTTHUMP00000235523;OTTHUMP00000235525;RNA-binding motif protein 4;RNA-binding motif protein 4a;RNA-binding protein 4;lark homolog;transcriptional coactivator CoAZ;zinc finger CCHC-type and RNA binding motif 3A protein-coding ENSG00000173933 HGNC:9901 03982 602571 VALIDATED 1605361 RBM41 RNA binding motif protein 41 ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; coumestrol X X X q22.3 106776426 106833365 - 106305115 106362057 - 107061885 107118827 - 6480464 12477932;14702039;15489334;15772651;16189514;16344560;18271526 55285 H0Y6F9;Q96IZ5 ABBA01035851;ABBA01035852;ABBA01035853;ABBA01035854;ABBA01035855;ABBA01035856;ABBA01035857;ABBA01035858;ABBA01035859;ABBA01035860;AK001878;AK023732;AL390039;AL832966;AMYH02040210;BC006986;CH471120;DA255574;NG_016385;NM_001171080;NM_018301;XM_005262159;XM_005262160;XM_005262161;XM_005262162;XM_006724671;XR_244476 AAH06986;BAA91957;BAB14660;EAX02722;EAX02723;EAX02724;NP_001164551;NP_060771;Q96IZ5;XP_005262216;XP_005262217;XP_005262218;XP_005262219;XP_006724734 Hs.139053 1655540;2136880;2175566;5014051;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2278;D8S2279;L18426;RH17499;RH18436;SHGC-33214 FLJ11016;FLJ13670;RP13-383K5.1;bB383K5.1 OTTHUMP00000023795;OTTHUMP00000023796;RNA-binding motif protein 41;RNA-binding protein 41 protein-coding ENSG00000089682 HGNC:25617 06515 VALIDATED 1642917 RBM47 RNA binding motif protein 47 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN hematopoietic progenitor cell differentiation (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; arsenous acid 4 4 4 p14 40866838 41073114 - 40425272 40632958 - 40423255 40630621 - 6480464 12477932;15342556;16341674;16344560;16712791;19322201;20379614;21890473;24457600 54502 A0AV96;B7Z8Z7;D6R9D6;D6R9M7;D6RA49;D6RBP6;D6RBS9;D6RCT1;D6REZ6;D6RFL5 ABBA01014245;ABBA01014246;ABBA01014247;ABBA01014248;ABBA01014249;ABBA01014250;ABBA01014251;ABBA01014252;AC098869;AC112717;AF261889;AF262323;AK000280;AK024997;AK025296;AK304206;AMYH02009072;AMYH02009073;AMYH02009074;AMYH02009075;AMYH02009076;AMYH02009077;AMYH02009078;AMYH02009079;AMYH02009080;BC034402;BC071585;BC126261;BC143942;BM837005;BP332501;BX648404;CB124502;CH471069;DA861151;NM_001098634;NM_019027;XM_005248103;XM_005248107;XM_005248108;XM_005248109;XM_005248110;XM_005248111 A0AV96;AAH34402;AAI26262;AAI43943;AAM21972;AAM21973;ADR83083;BAA91049;BAH14133;EAW92964;EAW92965;EAW92966;EAW92967;EAW92968;EAW92969;NP_001092104;NP_061900;XP_005248160;XP_005248164;XP_005248165;XP_005248166;XP_005248167;XP_005248168 Hs.518727 1666244;1683719;1749897;1750435;2113642;2121628;2152347 RH36240;RH47703;RH94065;SHGC-111624;SHGC-111748;SHGC-67234;UniSTS:479074 DKFZp686F02235;FLJ20273;FLJ21344;FLJ21643;NET18 OTTHUMP00000158755;OTTHUMP00000158756;OTTHUMP00000218858;OTTHUMP00000218859;RNA-binding motif protein 47;RNA-binding protein;RNA-binding protein 47 protein-coding ENSG00000163694 HGNC:30358 VALIDATED 7247195 RBM5-AS1 RBM5 antisense RNA 1 This gene encodes an antisense RNA that may be involved in suppression of apoptosis by regulating the expression of splice variants from sense strand locus, RNA binding motif protein 5. [provided by RefSeq, Oct 2011] 3 3 p21.3 50137036 50138421 - 50099603 50100988 - 10949932;19559772 100775107 ABBA01024554;AC104450;AMYH02006766;EF470865;NR_045388 Hs.439480 LUST ncrna HGNC:48871 REVIEWED 1351687 RBM4B RNA binding motif protein 4B ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN circadian regulation of gene expression (ortholog); circadian rhythm (ortholog); entrainment of circadian clock by photoperiod (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; ethyl methanesulfonate 11 11 11 q13 63759071 63771879 - 66432469 66445348 - 66664994 66677921 - 737633;1580863;6480464;8554872 12477932 12429849;12628928;14702039;15489334;16169070;16189514;16344560;17081983;19322201;20936779;21145461;21832049;21890473;21926972;21963094;21987572;22505724;23000965;23455924;24250222;24457600;25027693 83759 E9PLB0;E9PM61;H0YDG8;Q9BQ04;U3KQD5 ABBA01024067;ABBA01024068;AK095158;AL050172;AMYH02024979;AP001157;BC003503;BC004951;BQ428264;CH471076;DA249771;DB465480;NM_001286135;NM_031492;XR_247213;XR_247214 AAH03503;AAH04951;ADZ15871;BAG52995;EAW74558;NP_001273064;NP_113680;Q9BQ04 Hs.618713 1647574;1683874;2131434;2163274;5093278 A009K38;D11S1217;G32624;RH70506;WI-18402 MGC10871;RBM30;RBM4L;ZCCHC15;ZCCHC21B;ZCRB3B OTTHUMP00000235533;OTTHUMP00000235534;RNA binding motif protein 30;RNA-binding motif protein 30;RNA-binding motif protein 4B;RNA-binding protein 30;RNA-binding protein 4B;zinc finger CCHC-type and RNA binding motif 3B protein-coding ENSG00000173914 HGNC:28842 15230 VALIDATED 1317542 RBM7 RNA binding motif protein 7 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN meiotic cell cycle (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 11 11 11 q23.1-q23.2 111424330 111432572 + 114271283 114279636 + 114400529 114410610 + 1580863;6480464;8554872 12477932;12634307;14702039;15146197;15302935;15489334;16159877;16189514;16263084;16344560;16964243;17207965;18854154;19156129;19369198;19447967;21145461;22242598;22365833;22446626;23000965;23602568;23667531;24250222;8125298 10179 F5GXV8;F5GY08;F5H606;F5H674;G3V1T9;J3KPD3;Q9Y580 AB209753;ABBA01039770;AF156098;AK002015;AK225615;AK225667;AK312619;AMYH02025602;AP002373;BC013320;BC034381;BC070262;BQ067937;CH471065;CN308273;DA027521;NM_001286045;NM_001286046;NM_001286047;NM_001286048;NM_016090 AAD39257;AAH34381;AAH70262;ADQ31580;BAA92036;BAD92990;BAG35505;EAW67246;EAW67247;EAW67248;NP_001272974;NP_001272975;NP_001272976;NP_001272977;NP_057174;Q9Y580 Hs.7527 1671964;1685928;1698396;1734954;1763725;1766059;2109745;2131054;2162879;2171568;5015961;5109281 C95589;D15S1477;D1S1425;D2S1708E;RBM7_9055;RH102740;RH99159;SHGC-147400;SHGC-149441;STS-H59141;STS-N24654;STS-N34855 FLJ11153 OTTHUMP00000238422;OTTHUMP00000238423;OTTHUMP00000238424;OTTHUMP00000238427;RNA-binding motif protein 7;RNA-binding protein 7 protein-coding ENSG00000076053 HGNC:9904 11488 612413 VALIDATED 1352463 RBM8B RNA binding motif protein 8B pseudogene ASSOCIATED WITH Absent radii and thrombocytopenia (inferred) 14 14 14 q23.1 40914557 40917343 + 60864417 60867232 + 60397699 60400514 + 7240710 11013075;11707068 112846 ABBA01018280;ABBA01018281;AF403013;AL132778;AMYH02029294;NG_002415 1644980;1678441;1682493;2191025;2191779 Bdaa5e06;MARC_13480-13481:1003840387:1;MARC_7387-7388:996687855:1;RH12855;RH80039 pseudo HGNC:13426 274000 INFERRED 1602202 RBM48 RNA binding motif protein 48 ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); FOUND IN nucleus; INTERACTS WITH formaldehyde; hydrogen peroxide; methyl methanesulfonate 7 7 7 q21.2 86862619 86871355 + 92158079 92167319 + 92528768 92538005 + 6480464 11230166;12477932;14702039;15383276;16169070;18029348;21900206;8889548 84060 B4DGJ6;C9J787;Q5RL73 ABBA01045802;AC005156;AC007566;AF161422;AK054777;AK294626;AK294812;AL136619;AMYH02016265;BC020919;BC033561;BC044570;BC065716;BC104865;BC104867;BC143576;BM970879;CH236949;CH471091;CR533549;CR933641;CR936726;NM_032120;XM_005250636;XM_006716149;XM_006716150 AAF28982;AAH20919;AAH33561;AAH44570;AAI04866;AAI04868;AAI43577;BAB70806;BAG57807;BAH11891;CAB66554;CAG38580;CAI45942;EAL24148;EAW76838;EAW76839;NP_115496;Q5RL73;XP_005250693;XP_006716212;XP_006716213 Hs.21590 5015869;5015961;5016781;5022322;5037552 D11S2560;D15S1477;D8S2279;GDB:313261;SHGC-67307 C7orf64;DKFZP564O0523;DKFZp686D1651;HSPC304 OTTHUMP00000215751;OTTHUMP00000215752;RNA-binding protein 48;UPF0712 protein C7orf64;hypothetical protein LOC84060 APPROVED protein-coding ENSG00000127993 HGNC:21785 13173 VALIDATED 1350787 RBMS1P1 RNA binding motif, single stranded interacting protein 1 pseudogene 1 INTERACTS WITH all-trans-retinoic acid 12 12 12 q14.3 66291022 66293236 - 66626796 66629006 - 66233016 66235226 - 6480464 8871567 5938 ABBA01026575;AC078889;AMYH02026679;D82351;NG_000866;NG_021194 BAA11561 1680825;1686166;1852639 G09311;RH80864;RH80872 MSSP1;RBMS1P APPROVED pseudo HGNC:9908 INFERRED 1318710 RBM25 RNA binding motif protein 25 ENCODES a protein that exhibits mRNA binding; poly(A) RNA binding; INVOLVED IN regulation of alternative mRNA splicing, via spliceosome; regulation of apoptotic process; PARTICIPATES IN spliceosome pathway; FOUND IN nuclear speck; nucleus; INTERACTS WITH (-)-demecolcine; (S)-nicotine; benzo[a]pyrene diol epoxide I 14 14 14 q24.3 53588522 53651356 + 73525221 73588749 + 73058513 73121368 + 1302519;1580863;6480464;6907045 7596406 12477932;12508121;14702039;15302935;15561718;16051665;16159877;16964243;17081983;17353931;17361185;17370265;17560998;18029348;18663000;18854154;19322201;19471022;21081666;21139048;21693764;21859973;22365833;22586326;22751105;22939629;22990118;23190262;23602568;24332808;24457600;24639526;24654937;24816145;25027693;8227983;9847074 58517 E9PQU5;E9PSE8;H0YE46;P49756 ABBA01030768;ABBA01030769;AC004858;AF109907;AK026107;AK094697;AK125513;AL442663;AL832314;AL833497;AMYH02029482;AMYH02029483;BC033664;BC062440;BC083496;BC111066;BC113389;BC113391;BC136775;BC136776;BC144407;BX647116;CH471061;KF455937;L40392;NM_021239;S67071 AAB28817;AAC41999;AAC97961;AAF19255;AAH62440;AAH83496;AAI11067;AAI13390;AAI13392;AAI36776;AAI36777;AAI44408;BAB15362;BAG52915;EAW81086;EAW81087;EAW81088;EAW81089;EAW81090;NP_067062;P49756 Hs.531106 1338651;1648854;1660143;1674309;1683080;1690768;1722689;1740695;1773407;1777769;1779946;1857877;2112142;2116820;2134207;2173477;2174998;2177915;2180067 A007D07;D14S1274;D14S1365;D14S77;G35872;G38130;G38145;G38164;G38180;G38197;G38202;G38224;G60429;RH47401;RH70188;RH91841;RH91914;SGC31601;SHGC-154192 MGC105088;MGC117168;NET52;RED120;RNPC7;S164;Snu71;fSAP94 Arg/Glu/Asp-rich protein, 120 kDa;OTTHUMP00000236132;OTTHUMP00000236134;RNA-binding motif protein 25;RNA-binding protein 25;RNA-binding region (RNP1, RRM) containing 7;RNA-binding region-containing protein 7;U1 small nuclear ribonucleoprotein 1SNRP homolog;arg/Glu/Asp-rich protein of 120 kDa;functional spliceosome-associated protein 94 protein-coding HGNC:23244 15229 612427 VALIDATED 1342651 RBM6 RNA binding motif protein 6 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN RNA processing (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; benzo[a]pyrene diol epoxide I; formaldehyde 3 3 3 p21.3 49943716 50087548 + 49977474 50114685 + 49940041 50077252 + 1580863;6480464 10352938;10353602;10486216;11085536;12477932;14702039;15302935;16344560;16964243;17081983;17360941;17908320;19471022;21102462;21139048;21693764;21988832;22586326;24332178;24337577;24816145;9500467 10180 A8K6Q4;B4DNY1;B4E0G6;C9J250;C9JII0;C9JMC8;C9JSL1;E9PGM9;F8WCA5;F8WCT0;F8WF63;P78332 ABBA01024555;ABBA01024556;ABBA01024557;ABBA01024558;ABBA01024559;ABBA01024560;ABBA01024561;ABBA01024562;ABBA01024563;ABBA01024564;ABBA01024565;ABBA01024566;AC104450;AC105935;AF042857;AF069517;AF091264;AK093836;AK096765;AK124030;AK291719;AK298108;AK303371;AK308794;AL832236;AMYH02006761;AMYH02006762;AMYH02006763;AMYH02006764;AMYH02006765;AMYH02006766;AY216800;BC012112;BC030057;BC046643;BX648535;CH471055;DA068167;NM_001167582;NM_005777;U50839;XM_005264784;XM_005264785;XM_005264786;XM_005264787;XM_005264788;XM_006712916 AAC05826;AAC21578;AAC35207;AAD04160;AAH46643;AAO91806;BAC85756;BAF84408;BAG52768;BAG60393;BAG64428;EAW65039;NP_001161054;NP_005768;P78332;XP_005264841;XP_005264842;XP_005264843;XP_005264844;XP_005264845;XP_006712979 Hs.696735 1341490;1342126;1736704;1738905;1738917;1739551;1793482;1793484;1793486;1793488;1855382;2132415;2140841;2158305;2175146;5014051;5015619;5015961;5016478;5016700;5021872;5022578;5037552;7187077 D11S3114;D15S1477;D1S1423;D3S2968;D3S3150;D3S3179;D3S3186;D3S3444;D3S3604;D3S3667;D3S4023;D3S4064;D3S4065;D8S2278;D8S2279;GDB:434012;PMC22669P21;PMC22669P22;PMC22669P23;PMC22669P24;RH79802;WI-18724;sY3084 3G2;DEF-3;DEF3;DKFZp686B0877;FLJ36517;FLJ39446;FLJ42036;HLC-11;NY-LU-12;g16 OTTHUMP00000210487;OTTHUMP00000210492;OTTHUMP00000210499;OTTHUMP00000210501;RNA-binding motif protein 6;RNA-binding protein 6;RNA-binding protein DEF-3;lung cancer antigen NY-LU-12;lung cancer protooncogene 11 protein-coding ENSG00000004534 HGNC:9903 06054 606886 VALIDATED 1641974 RBMS2P1 RNA binding motif, single stranded interacting protein 2 pseudogene 1 12 12 12 q22 94488503 94490085 - 94817244 94818826 - 94423468 94425050 - 643427 ABBA01053364;AC073655;AMYH02026953;NG_008697 1654262 D12S1881 RBMS2P APPROVED pseudo HGNC:30994 INFERRED 6481329 RBMS3-AS1 RBMS3 antisense RNA 1 p24.1 100873977 AC099048;DB075940;NR_046556 Hs.581453 APPROVED ncrna HGNC:39987 VALIDATED 1312863 RBM5 RNA binding motif protein 5 This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011] 3 3 3 p21.3 50099217 50129214 + 50126341 50156397 + 50088908 50118964 + 1580863;6480464;8554872 10352938;10486216;10497265;10508479;10949932;12036935;12226669;12477932;12581154;14702039;15146197;15192330;15338470;15489334;16169070;16344560;16546166;16585163;16927403;16945339;17081983;17332742;17606309;17908320;18029348;18038152;18587224;18840686;18851835;18854154;18951082;19471022;19559772;20309933;20338664;21145461;21900206;22365833;22537942;22569250;22609235;22839758;22866867;22882865;22990118;23017209;23158838;23721095;23935508;24097068;24332178;24457600;24816145;8889548 10181 C9J9P7;C9JFQ5;C9JR02;F8W910;F8WE23;H7BYM9;P52756 AB208813;AB586690;ABBA01024554;AC104450;AF091263;AF103802;AF107493;AK097195;AK297249;AK297445;AK302766;AK314032;AL701303;AMYH02006766;AU129811;BC002957;BM985111;BQ899199;BX441555;CH471055;CN293007;DA776815;DB080737;DR762951;NG_030403;NM_005778;NR_036627;U23946;U73168;XM_006712917;XM_006712918;XM_006712919;XM_006712920;XR_427245 AAA99715;AAB42216;AAD04159;AAF02422;AAF99551;AAI56349;AAI57103;BAD92050;BAG36742;BAG59728;BAG59871;BAG63975;BAJ19019;EAW65040;EAW65041;EAW65042;NP_005769;P52756;XP_006712980;XP_006712981;XP_006712982;XP_006712983 Hs.439480 1649087;1658624;1686869;1738881;1738907;1739787;1793476;2118014;2131629;2160417;5015861;5022450;7185938 D10S16;D10S275;D3S3165;D3S3180;D3S3479E;G16543;IB431;PMC22669P19;RH24950;RH77698;STS-AA001762;STS-AA037589 FLJ39876;G15;H37;LUCA15;RMB5 OTTHUMP00000210613;RNA-binding motif protein 5;RNA-binding protein 5;putative tumor suppressor LUCA15;renal carcinoma antigen NY-REN-9 APPROVED protein-coding ENSG00000003756 HGNC:9902 06052 606884 REVIEWED 6481327 RBMS3-AS2 RBMS3 antisense RNA 2 3 29615099 29642935 - 100873978 ABBA01024969;AC021068;AMYH02006472;AU311787;XR_425584;XR_427321;XR_431576 APPROVED ncrna HGNC:39988 MODEL 6481326 RBMS3-AS3 RBMS3 antisense RNA 3 3 3 p24.1 29305685 29321805 - 29264194 29280939 - 11329013;16341674 100873979 ABBA01024972;AC012262;AMYH02006464;BG201526;BM840572;HG495564;NR_109804 Hs.99391 APPROVED ncrna HGNC:39989 VALIDATED 1320809 RBM8A RNA binding motif protein 8A This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013] 1 1 1 q21.1 119710991 119714797 + 145507557 145513536 + 145921556 145927536 - 1580863;6480464;6907045;7240710;8554872;8699517 10662555;11004516;11013075;11030346;11042152;11118221;11447110;11546873;11546874;11696323;11707068;11707413;11991638;12054603;12093754;12226669;12477932;12718880;12730685;12781131;12944400;14625303;14730019;15302935;15489334;15635413;16083285;16100109;16159877;16170325;16189514;16209946;16303743;16344560;16452507;16501559;16601204;16931718;16964243;17081983;17456004;18026120;18029348;18243119;18503751;19254694;19410547;19417104;19471022;19615732;20098747;20301781;20371770;21139048;21145460;21209085;21832049;22355610;22365833;22366785;22939629;22944692;23084401;23115303;23602568;23817415;23940030;23970407;24244333;24416299;24457600;24816145;9222511;9933612 9939 Q8WWE9;Q9Y5S9 ABBA01005742;AC243547;AF127761;AF161463;AF182415;AF198620;AF231511;AF299118;AF403012;AI424454;AK075009;AL049219;AL160282;BC017088;BC017770;BC071577;CH471244;CQ783804;CR541805;CR541823;DB286556;KF051020;KJ579163;NG_032654;NM_005105 AAD21089;AAF29078;AAF37551;AAG14951;AAG16781;AAG27091;AAH17088;AAH17770;AAL26999;ACT64417;ACT64418;AHX83806;AIB06357;BAG52051;CAF86870;CAG46604;CAG46622;EAW71418;EAW71419;NP_005096;Q9Y5S9 Hs.591455 1644980;1645734;1661843;1662793;1678441;1682493;1683068;2141608;2158585;2191025;2191779;5037552 A008J33;Bdaa5e06;D8S2279;G19805;MARC_13480-13481:1003840387:1;MARC_7387-7388:996687855:1;RH10610;RH12855;RH80039;SHGC-75413;WI-19788;WI-22172 BOV-1;BOV-1A;BOV-1B;BOV-1C;C1DELq21.1;DEL1q21.1;MDS014;RBM8;RBM8B;TAR;Y14;ZNRP;ZRNP1 OTTHUMP00000015573;OTTHUMP00000015574;RNA binding motif protein 8B;RNA-binding motif protein 8A;RNA-binding protein 8A;RNA-binding protein Y14;binder of OVCA1-1;ribonucleoprotein RBM8;ribonucleoprotein RBM8A APPROVED protein-coding ENSG00000265241 HGNC:9905 05609 274000;605313 REVIEWED 1345969 RBMX2 RNA binding motif protein, X-linked 2 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH atrazine; cadmium dichloride; ethyl methanesulfonate X X X q26.1 129922409 129933783 + 129535943 129547317 + 130401969 130413343 + 737633;1580863;6480464 12477932 10810093;15302935;15489334;15772651;17081983;19322201;20360068;22365833;24250222;24816145 51634 Q05DU0;Q5JY83;Q9Y388 ABBA01047928;ABBA01047929;AF078865;AF151837;AK292855;AL035423;AL050405;AMYH02040482;BC003676;BC010036;BC012345;BC033750;BC040433;BC050707;BC063517;BC105582;CH471107;NM_016024 AAD34074;AAD44497;AAH03676;AAH33750;AAI05583;BAF85544;CAB43745;EAX11799;EAX11800;NP_057108;Q9Y388 Hs.740515 1686714;1699564;2110695;2122453;2136809;7187858 AL008949;DXS8291;RBMX2__6968;RH103383;STS-AA025315 CGI-79 2810411A03Rik;OTTHUMP00000024016;RNA-binding motif protein, X-linked 2 protein-coding ENSG00000134597 HGNC:24282 06470 VALIDATED 5131391 RBMX2P2 RNA binding motif protein, X-linked 2 pseudogene 2 X X X q27.2 140725000 140725859 + 140357479 140358338 - 141263343 141264202 - 100132808 ABBA01023064;AC234777;AL109799;AMYH02040641;NG_022644 1795214 bG82i1.1,_DNA_segment_containing_(GT)_repeat pseudo HGNC:39924 INFERRED 1349812 RBMX RNA binding motif protein, X-linked This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009] X X X q26.3 136315008 136326547 - 135951353 135962939 - 136869194 136880780 - 1580863;6480464;6907045 10332027;10391206;10391207;10749975;11101529;11118435;11420617;11991638;12165565;12226669;12388589;12477932;12761049;14559993;14702039;15144186;15231747;15302935;15489334;1551662;15772651;15782174;16159877;16189514;16196087;16210410;16230076;16344560;16491274;16552754;16677675;16964243;17081983;17332742;17353931;17387044;17643375;18445477;18541147;19282290;19471022;19615732;19738201;20020773;20211142;20360068;20562859;20639865;21081666;21110914;21139048;21145461;21182205;21642987;21840245;21853274;21890473;21906983;21907836;21963094;21988832;22113938;22178446;22268729;22344029;22365833;22446626;22505724;22558309;22586326;22623428;22751105;22797925;22832223;22939629;23000965;23084401;23125841;23151878;23398456;23443559;23602568;23825951;24457600;24550385;24816145;25015289;25027693;7692398;8889549 27316 B3KRG5;H0Y6E7;H3BNC1;H3BR27;H3BT71;H3BUY5;P38159 AA160187;ABBA01065759;ABBA01065760;ABBA01065761;ABBA01065762;ABBA01065763;AF266723;AK091520;AK096015;AK097941;AK304573;AK304868;AK309911;AL683813;AMYH02040582;AMYH02040583;AMYH02040584;AY464692;BC006550;BC007435;BM147410;BM993214;BU587845;BX647131;CH471150;DA925805;DC337568;NG_012918;NM_001164803;NM_002139;NR_028476;NR_028477;Z23064 AAH06550;AAH07435;AAK58567;AAR28036;ABM84137;ABM87539;BAC04674;BAG52377;BAG65364;BAG65606;CAA80599;EAW88453;EAW88454;EAW88455;EAW88456;EAW88457;NP_001158275;NP_002130;P38159 Hs.380118;Hs.710162 1728915;2146681;2156965;5021209 DXS7491;G42696;RH45175;WI-11365 HNRNPG;HNRPG;RBMXP1;RBMXRT;RNMX;hnRNP-G OTTHUMP00000024132;RNA binding motif protein, X chromosome;RNA-binding motif protein, X chromosome;glycoprotein p43;heterogeneous nuclear ribonucleoprotein G;hnRNP G APPROVED protein-coding ENSG00000147274 HGNC:9910 02186 300199 REVIEWED 5131387 RBMX2P3 RNA binding motif protein, X-linked 2 pseudogene 3 1 1 1 117858461 117859414 - 119627624 119628577 - 119085001 119085954 - 100421047 ABBA01068511;AL359823;AMYH02001812;NG_026974 pseudo HGNC:39925 INFERRED 5688426 RBMX2P4 RNA binding motif protein, X-linked 2 pseudogene 4 7 7 p21.3 12961969 12962545 - 12922344 12922920 - 9847074 100862677 ABBA01056581;AC006000;AMYH02015253;NG_032115 pseudo HGNC:39926 INFERRED 1312477 RBMS2 RNA binding motif, single stranded interacting protein 2 The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. The RBMS proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thought to suppress cdc2 and cdc13 mutants through the induction of translation of cdc2. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 56568736 56642636 + 56915607 56994859 + 56521825 56596196 + 1580863;6480464 12477932;14702039;1533657;15489334;16169070;20214974;21145461;21150319;22479202;22939629;23602568;8041632;8889548 5939 B7Z5Y7;F5H5C8;F8VQS9;F8VV01;F8VZR4;F8W1T6;Q15434 ABBA01008426;ABBA01008427;ABBA01008428;ABBA01008429;AC090681;AC097104;AK096412;AK097342;AK125252;AK293315;AK299580;AK304540;AK308885;AL698629;AMYH02026570;AMYH02026571;BC027863;BC072679;BM929514;CF890834;CH471054;D28483;DC382164;GU228575;NM_002898;XM_005269059;XM_005269060;XM_005269061;XM_005269066;XM_006719541;XM_006719542;XM_006719543;XM_006719544;XM_006719545 AAH27863;AAH72679;BAA05842;BAH11489;BAH13073;BAH14210;EAW96947;EAW96948;NP_002889;Q15434;XP_005269116;XP_005269117;XP_005269118;XP_005269123;XP_006719604;XP_006719605;XP_006719606;XP_006719607;XP_006719608 Hs.505729;Hs.683360 1654262;1688269;1698140;1754633;2115446;2117100;2117327;2144982;5014019;5014063;5015867;5016478;5016781;5020274;5020946;5022578;5022651;5024272;5037552;5109281 D11S2921;D12S1881;D15S1390;D1S1423;D1S1425;D2S1254;D5S2354;D8S2279;GDB:312714;GDB:434012;L17971;L18441;RH102603;RH44533;RH80724;SHGC-132980;SHGC-58278;SHGC-67307;STS-N33267;T15358 FLJ39093;FLJ40023;FLJ43262;SCR3 OTTHUMP00000243922;OTTHUMP00000243924;OTTHUMP00000243925;OTTHUMP00000243989;RNA-binding motif, single-stranded-interacting protein 2;suppressor of CDC2 with RNA-binding motif 3 APPROVED protein-coding ENSG00000076067 HGNC:9909 03860 602387 REVIEWED 5131394 RBMX2P5 RNA binding motif protein, X-linked 2 pseudogene 5 5 5 5 q14.1 75528622 75529680 - 79626599 79628411 - 80330780 80332592 - 391804 ABBA01062033;ABBA01062034;AC026410;AMYH02011662;NG_028951 pseudo HGNC:39927 INFERRED 5131392 RBMX2P1 RNA binding motif protein, X-linked 2 pseudogene 1 21 21 21 q11.2 1371210 1372050 - 16201470 16202310 - 14829149 14829989 - 100128341 ABBA01057084;AF127936;AMYH02037522;NG_021989 pseudo HGNC:39923 INFERRED 1603234 RBMXL1 RNA binding motif protein, X-linked-like 1 This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009] 1 1 1 p22.2 87690929 87704434 - 89445139 89458643 - 88979456 88992960 - 6480464;6907045;8554872 10737800;12477932;14739461;16201836;16344560;19165527 494115 Q96E39 ABBA01045589;AL139416;AL832554;AL832785;AMYH02001432;AMYH02001433;BC012942;BF901720;CH471097;CR743094;DA010727;DA216732;DA390224;DC397531;DQ120650;NM_001162536;NM_019610 AAH12942;ABB92435;CAI46148;EAW73155;EAW73156;NP_001156008;NP_062556;Q96E39 Hs.481898 1690105;2122473;2185571;2186878 A004S46;RH93455;SHGC-75110;SHGC-75112 DKFZp547N1117;DKFZp667D0223;FLJ32614;RBM1 OTTHUMP00000216065;RNA binding motif protein, X-linked-like-1;heterogeneous nuclear ribonucleoprotein G-like 1 APPROVED protein-coding ENSG00000213516 HGNC:25073 17417 REVIEWED 1351947 RBMXP1 RNA binding motif protein, X-linked pseudogene 1 6 6 6 p12.3 49736905 49738971 - 48180639 48182705 - 48212903 48214969 - 10391206;1551662;16707624;7692398 3186 ABBA01050604;AL121573;AMYH02013699;NG_001022 HNRNP-G;HNRPG pseudo HGNC:9911 INFERRED 1605160 RBMXP2 RNA binding motif protein, X-linked pseudogene 2 9 9 9 p21.1 30617780 30619790 + 30688946 30690958 + 30688948 30690960 + 441391 ABBA01065098;AL390844;AMYH02019390;NG_004760 pseudo HGNC:23284 INFERRED 1603656 RBMXL2 RNA binding motif protein, X-linked-like 2 This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008] 11 11 11 p15 7229213 7231427 + 7110165 7112379 + 7088934 7091148 + 6480464;8554872 10749975;10958650;12389739;12477932;15302935;15489334;17081983;18029348;19287380;19893608;20607830;21110914;21145461;21327109;22178446;22939629;23000965;24816145 27288 O75526 ABBA01028676;AC100875;AF069682;AF279289;AK292271;AMYH02024276;BC029295;BC057796;BX091666;CH471064;HC007026;HC044513;NM_014469 AAC24858;AAF82129;AAH57796;BAF84960;CBH19318;CBH30586;EAW68665;NP_055284;O75526 Hs.121605 1701482;1795980 HNRNPG-T__1197;RH104373 HNRNPG-T;HNRNPGT;HNRPGT OTTHUMP00000230008;RNA-binding motif protein, X-linked-like-2;heterogeneous nuclear ribonucleoprotein G T;hnRNP G-T;testes specific heterogenous nuclear ribonucleoprotein G T;testes-specific heterogenous nuclear ribonucleoprotein G-T;testis-specific heterogeneous nuclear ribonucleoprotein G-T APPROVED protein-coding ENSG00000170748 HGNC:17886 05672 605444 REVIEWED 2303888 RBMXL3 RNA binding motif protein, X-linked-like 3 ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; paracetamol X X X q23 114859140 114862608 + 114423963 114427536 + 115189400 115192868 + 6480464 14702039;15772651;16344560;22178446;22678362 139804 Q8N7X1 ABBA01053649;AK097568;AK301904;AL589786;AMYH02040273;CH471120;DB069571;NG_021299;NM_001145346 BAG63332;EAX02620;NP_001138818;Q8N7X1 Hs.376008 5493369 UniSTS:485851 CXorf55;FLJ40249;FLJ54427 OTTHUMP00000212442;RNA-binding motif protein, X-linked-like-3 protein-coding ENSG00000175718 HGNC:26859 06567 VALIDATED 1343809 RBMS3 RNA binding motif, single stranded interacting protein 3 This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 3 3 3 p24-p23 29259697 29988619 + 29322351 30051886 + 29280860 30010395 + 1580863;6480464;8554872 10675610;12477932;14702039;15489334;17586524;17903296;17903298;18029348;19654303;20379614;21844183;22267851;22747683;22957092;23259602 27303 C9J9B2;C9JIJ9;Q6XE24 AA428240;ABBA01024965;ABBA01024966;ABBA01024967;ABBA01024968;ABBA01024969;ABBA01024970;ABBA01024971;ABBA01024972;AC012262;AC021068;AC092795;AC092796;AC097633;AC098650;AC099048;AF023259;AK093863;AK097311;AK292789;AMYH02006464;AMYH02006465;AMYH02006466;AMYH02006467;AMYH02006468;AMYH02006469;AMYH02006470;AMYH02006471;AMYH02006472;AMYH02006473;AMYH02006474;AW779062;AY236871;AY236872;BC117315;BC143521;CA448021;CH471055;NM_001003792;NM_001003793;NM_001177711;NM_001177712;NM_014483;XM_005265060;XM_005265061;XM_005265062;XM_005265063;XM_005265064;XM_005265065;XM_006713108;XM_006713109 AAC63910;AAI17316;AAI43522;AAP75555;AAP75556;BAF85478;EAW64405;EAW64406;EAW64407;EAW64408;NP_001003792;NP_001003793;NP_001171182;NP_001171183;NP_055298;Q6XE24;XP_005265117;XP_005265118;XP_005265119;XP_005265120;XP_005265121;XP_005265122;XP_006713171;XP_006713172 Hs.221436 1337438;1652865;1654100;1665180;1667661;1677592;1707006;1710656;1714517;1715863;1730073;1769536;1769567;1775449;1784792;1784846;1878266;2109747;2128303;2129811;2138491;2150832;2171055;2180401;5093450;7186516 108YG3;1294;A009P06;D3S1609;D3S2396;D3S2981;D3S4524;D3S647;G32725;RBMS3_9544;REN9820;RH119626;RH119771;RH16621;RH92986;SGC34293;SHGC-155138;SHGC-155763;SHGC-33715;SHGC-76788;SHGC-76790;SHGC-76797;SHGC-76802;SHGC-81005;SHGC-81044 FLJ36544 OTTHUMP00000208495;OTTHUMP00000208497;OTTHUMP00000208498;OTTHUMP00000208499;OTTHUMP00000208500;OTTHUMP00000208501;RNA-binding motif, single-stranded-interacting protein 3;RNA-binding protein APPROVED protein-coding ENSG00000144642 HGNC:13427 16155 605786 REVIEWED 1351846 RBMY1A2 RNA binding motif protein, Y-linked, family 1, member A2 9598316 5941 HGNC:9913 1347930 RBMY1A3P RNA binding motif protein, Y-linked, family 1, member A3 pseudogene Y Y Y p11.2 69770 75581 + 9154670 9160483 - 9317061 9322874 - 12815422;9598316 286557 ABBA01031634;AC006158;AF527837;NR_001547 Hs.567833 pseudo HGNC:18849 PROVISIONAL 1342867 RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1 This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8917868 8932273 - 23696724 23721586 + 21534853 21559700 + 1580863;6480464 10749975;10823932;11149922;11869379;12165565;12376959;12477932;12815422;15184870;15489334;17001072;17207965;17318228;17453684;17881721;19893608;20016065;20301513;20462248;21044950;21422736;22190034;23385816;23567846;8269511;8875892;9547301;9598316 5940 F2Z2U1;J3QTP2;P0DJD3 ABBA01049542;AC010141;BC047768;BC070298;BC146853;BU568309;BX119894;NG_004832;NG_012805;NM_005058;U37766;X76059;XM_005262514;XM_005262515;XM_005262516;XM_005262517 AAB49819;AAH47768;AAH70298;AAI46854;ADQ32030;CAA53659;NP_005049;P0DJD3;XP_005262571;XP_005262572;XP_005262573;XP_005262574 Hs.380450 5018919;5020689;5020983;5107381;5124413;5125478 DYS41;G65850;G65856;RBMY;RH38683;sY627 MGC181956;RBM;RBM1;RBM2;RBMY;RBMY1C;YRRM1;YRRM2;hRBMY OTTHUMP00000040529;RNA binding motif protein 2;RNA binding motif protein, Y chromosome, family 1, member A1;RNA binding protein;RNA-binding motif protein 1;RNA-binding motif protein 2;RNA-binding motif protein, Y chromosome, family 1 member A1;RNA-binding motif protein, Y chromosome, family 1 member A1/C;y chromosome RNA recognition motif 1 APPROVED protein-coding ENSG00000234414;ENSG00000279934 HGNC:9912 02450 400006 REVIEWED 1349852 RBMY1C RNA binding motif protein, Y-linked, family 1, member C ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); FOUND IN nucleus (inferred) q11.23 10749975;15489334;8269511;9598316 5942 P0DJD4 U36604;U36605;U36606;U36607;U36608;U36609;U36610 AAC16917;AAC16918;P0DJD4 RNA binding motif protein, Y chromosome, family 1, member C;RNA-binding motif protein, Y chromosome, family 1 member C protein-coding HGNC:9914 1347232 RBMY1D RNA binding motif protein, Y-linked, family 1, member D This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8917868 8932267 - 24015849 24040715 - 21869702 21894552 - 6480464 12477932;12815422;15184870;8269511;8875892;9598316 378949 P0C7P1 AC007322;BC136862;BC144459;NG_004755;NM_001006120;XM_005262583;XM_005262584;XM_005262585;XM_005262586 AAI36863;AAI44460;NP_001006120;P0C7P1;XP_005262640;XP_005262641;XP_005262642;XP_005262643 Hs.380450 5018919;5020689;5020983;5124413;5125478 DYS41;G65850;RBMY;RH38683;sY627 OTTHUMP00000040532;RNA-binding motif protein, Y chromosome, family 1 member D APPROVED protein-coding ENSG00000244395;ENSG00000279309 HGNC:23915 17959 REVIEWED 1342986 RBMY1E RNA binding motif protein, Y-linked, family 1, member E This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8917868 8932267 - 24049765 24064252 - 21903618 21918093 - 6480464 12477932;12815422;15184870;8269511;8875892;9598316 378950 A6NEQ0;J3KPK3 AC007322;NG_004755;NM_001006118;XM_005262587;XM_005262588 A6NEQ0;AAI60023;NP_001006118;XP_005262644;XP_005262645 Hs.725744 5018919;5020689;5020983;5124413;5125478 DYS41;G65850;RBMY;RH38683;sY627 OTTHUMP00000040533;RNA-binding motif protein, Y chromosome, family 1 member E APPROVED protein-coding ENSG00000242389;ENSG00000280343 HGNC:23916 17960 REVIEWED 1353734 RBMY1G RNA binding motif protein, Y-linked, family 1, member G 9598316 5943 HGNC:9915 1352327 RBMY1F RNA binding motif protein, Y-linked, family 1, member F This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8917868 8932267 - 24314689 24329172 - 22168542 22183008 - 737633;6480464 12477932 10749975;12815422;15184870;15489334;8269511;8875892;9598316 159163 J3KQ82;Q15415 ABBA01005817;ABBA01005818;AC023342;BC030018;BC152392;NG_004755;NM_152585;U35882;X76060;XM_005262574;XM_005262575;XM_005262576;XM_005262577 AAH30018;AAI52393;ABM82125;CAA53660;NP_689798;Q15415;XP_005262631;XP_005262632;XP_005262633;XP_005262634 Hs.567746 5018919;5020689;5020983;5107381;5124413;5125478 DYS41;G65850;G65856;RBMY;RH38683;sY627 MGC33094;RBMY1J;YRRM2 OTTHUMP00000040530;RNA-binding motif protein, Y chromosome, family 1 member F/J;y chromosome RNA recognition motif 2 APPROVED protein-coding ENSG00000169800;ENSG00000280386 HGNC:23974 15232 REVIEWED 4889082 RBMY1GP RNA binding motif protein, Y-linked, family 1, member G, pseudogene Y Y p11.2 9163099 9168196 + 9325490 9330587 + 9598316;9847074 100287769 ABBA01031634;AC006158;NG_027927 RBMY1G pseudo HGNC:9915 INFERRED 2291760 RBMXP3 RNA binding motif protein, X-linked pseudogene 3 11 11 11 q14.1 79826096 79828120 + 82516229 82518253 + 82805187 82807211 + 143543 ABBA01017369;AMYH02025190;AP001646;NG_007349 pseudo HGNC:33949 INFERRED 1605123 RBMY1HP RNA binding motif protein, Y-linked, family 1, member H, pseudogene Y Y Y q11.223 1711 2284 + 23655305 23664223 + 21493419 21502337 + 12815422;9598316 5944 AC010141;NG_004832;U36611;U36612;U36613;U36614;U36615 AAC16919;AAC16920 1790991 sY1315 RBMY1H;YRRM APPROVED pseudo HGNC:9916 VALIDATED 6480942 RBMY1KP RNA binding motif protein, Y-linked, family 1, member K, pseudogene Y Y 24355478 24362727 + 22209331 22216580 + 9847074 100874497 AC025227;NG_029412 RBMY1K pseudo HGNC:38750 INFERRED 1354434 RBMY1B RNA binding motif protein, Y-linked, family 1, member B This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8917868 8932273 - 23673186 23687672 + 21511312 21525786 + 6480464 10749975;12477932;12815422;15184870;8269511;8875892;9598316 378948 A6NDE4;B9EIP3 AC010141;BC140758;BC144577;NG_004832;NM_001006121;XM_005262511;XM_005262512;XM_005262513 A6NDE4;AAI40759;AAI44578;NP_001006121;XP_005262568;XP_005262569;XP_005262570 Hs.380450;Hs.725744 5018919;5020689;5020983;5107381;5124413;5125478 DYS41;G65850;G65856;RBMY;RH38683;sY627 OTTHUMP00000038996;RNA-binding motif protein, Y chromosome, family 1 member B APPROVED protein-coding ENSG00000242875;ENSG00000278984 HGNC:23914 17958 REVIEWED 1604234 RBMY2CP RNA binding motif protein, Y-linked, family 2, member C pseudogene Y Y q11.223 25683049 25695178 - 23536902 23549031 - 12815422 140123 AC009947;NG_004755 1694834 G43668 RBMY2 pseudo HGNC:23260 VALIDATED 1605122 RBMY2AP RNA binding motif protein, Y-linked, family 2, member A pseudogene Y Y q11.23 24073262 24085386 - 21927115 21939239 - 12815422;9598316 5945 AC007322;NG_004755 1694834 G43668 RBMY2A pseudo HGNC:9917 VALIDATED 1606648 RBMY2BP RNA binding motif protein, Y-linked, family 2, member B pseudogene Y Y q11.223 24793303 24801365 + 22647156 22655218 + 12815422;22990118;9598316 375850 Q15381 AC008175;AC016694;AF026563;NG_004755;U36616;U36617;U36618;U36619;U36620;U36621 AAC16921;AAC16922 RBMY2B pseudo HGNC:9918 VALIDATED 1317165 RBMS1 RNA binding motif, single stranded interacting protein 1 This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009] 2 2 2 q24.2 154740148 154834898 - 161128662 161350366 - 160272151 160493855 - 1580863;6480464 10869558;12477932;14702039;15146197;15489334;15815621;17207965;19451621;20379614;20418489;20889853;21139048;21323541;21890473;22505724;22939629;22952844;23000965;7838710;8041632;8125298;8134115;8871567 5937 B4DN88;E7EPF2;E7ETU5;P29558 ABBA01004871;ABBA01004872;ABBA01004873;ABBA01004874;ABBA01004875;ABBA01004876;AC092153;AC104598;AC131754;AC133105;AI675628;AK127157;AK225887;AK297812;AK309949;AL117617;AMYH02005082;BC012992;BC012993;BC018951;BC037862;BC051889;BC065192;BC069687;BC069706;BC069763;BC080620;BX648246;CH471058;CN296957;CN399839;D28482;D82361;GN344101;GN344105;L11289;NM_002897;NM_016836;X64652;X77494;XM_005246737;XM_005246738;XM_005246739;XM_005246740;XM_005246741;XM_006712671;XM_006712672;XM_006712673;XM_006712674;XM_006712675 AAH12992;AAH12993;AAH18951;AAH65192;AAH69687;AAH69706;AAH69763;AAH80620;AAX93094;AAX93095;AAX93183;AAY15005;ADQ32749;BAA05841;BAA19554;BAA19555;BAA20858;BAG60150;CAA45923;CAA54628;CAY55986;CAY55988;EAX11381;EAX11382;EAX11383;EAX11384;EAX11385;EAX11386;EAX11387;EAX11388;NP_002888;NP_058520;P29558;XP_005246794;XP_005246795;XP_005246796;XP_005246797;XP_005246798;XP_006712734;XP_006712735;XP_006712736;XP_006712737;XP_006712738 Hs.470412;Hs.708357 1339887;1660327;1670149;1680825;1681558;1682201;1686166;1701398;1703846;1713411;1747947;1753701;1753711;1758351;1777942;1836904;2123891;2134758 D2S2290;D6S2035;ECD19616;G66774;RH104329;RH119562;RH36475;RH68939;RH80478;RH80864;RH80872;RH93437;SHGC-107571;SHGC-107576;SHGC-148132;SHGC-79133;WI-11065;WI-17930 C2orf12;DKFZp564H0764;HCC-4;MGC15146;MGC3331;MGC70597;MGC97258;MGC97270;MGC97282;MGC99543;MSSP;MSSP-1;MSSP-2;MSSP-3;SCR2;YC1 OTTHUMP00000162903;OTTHUMP00000205156;OTTHUMP00000205157;OTTHUMP00000205158;RNA-binding motif, single-stranded-interacting protein 1;c-myc gene single strand binding protein 2;cervical cancer oncogene 4;single-stranded DNA-binding protein MSSP-1;suppressor of CDC2 with RNA-binding motif 2;suppressor of cdc 2 (cdc13) with RNA binding motif 2 APPROVED protein-coding ENSG00000153250 HGNC:9907 03814 602310 REVIEWED 1345023 RBMY1J RNA binding motif protein, Y-linked, family 1, member J This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8917868 8932267 - 24549543 24564028 + 22403410 22417881 + 6480464 12815422;15184870;8269511;8875892;9598316 378951 J3KQ82;Q15415 AC007320;AK313597;NG_004755;NM_001006117;XM_005262589;XM_005262590 AAI48577;ABM85308;BAG36363;NP_001006117;Q15415;XP_005262646;XP_005262647 Hs.567746 5018919;5020689;5020983;5107381;5124413;5125478 DYS41;G65850;G65856;RBMY;RH38683;sY627 RBMY1F OTTHUMP00000040531;RNA-binding motif protein, Y chromosome, family 1 member F/J;y chromosome RNA recognition motif 2 APPROVED protein-coding ENSG00000226941;ENSG00000279323 HGNC:23917 15233 REVIEWED 1605804 RBMY2DP RNA binding motif protein, Y-linked, family 2, member D pseudogene Y Y Y q11.23 9195354 9204788 + 28267732 28279861 + 26121585 26133714 + 12815422 347598 AC006991;NG_004755 RBM;RBMY2 pseudo HGNC:23259 VALIDATED 2291807 RBMXP4 RNA binding motif protein, X-linked pseudogene 4 4 4 4 q25 107562319 107573207 - 110267437 110278316 - 109346281 109357160 - 100132580 ABBA01063773;AC004051;AMYH02009894;AMYH02009895;NG_009740 2147373 D4S474 pseudo HGNC:34028 INFERRED 1348708 RBMY2FP RNA binding motif protein, Y-linked, family 2, member F pseudogene INTERACTS WITH vincristine Y Y Y q11.223 9019538 9026884 - 24455004 24462352 + 22308857 22316205 + 737633;1580863;6480464 12477932 12815422;9344660 159162 ABBA01005809;ABBA01005810;AC007320;BC026077;CH878735;NG_004755;NR_002193 EAW61216 Hs.711527 5020689;5110341 DYS700;G65850 MGC26641 pseudo ENSG00000243040 HGNC:23891 PROVISIONAL 1348556 RBMY2EP RNA binding motif protein, Y-linked, family 2, member E pseudogene Y Y Y q11.223 8253252 8259666 - 23557034 23563448 - 21395148 21401562 - 12815422;9344660 159125 ABBA01057542;ABBA01057543;AC010086;NG_004832;NR_001574;U94388 Hs.567745 pseudo ENSG00000223637 HGNC:23890 VALIDATED 1344398 RBMY2GP RNA binding motif protein, Y-linked, family 2, member G pseudogene Y Y Y p11.2 3007113 3022508 - 6196230 6211625 + 6328189 6343584 + 12815422 378952 AC006335;NG_003081 1751991;1753089 SHGC-105961;SHGC-79815 pseudo HGNC:23892 INFERRED 1354231 RBMY2HP RNA binding motif protein, Y-linked, family 2, member H pseudogene Y Y Y p11.2 1675693 1682203 + 7539509 7546019 - 7671468 7677978 - 12815422 378953 ABBA01060147;ABBA01060148;AC007274;NG_003082 pseudo HGNC:23893 INFERRED 1344730 RBMY2JP RNA binding motif protein, Y-linked, family 2, member J pseudogene Y Y Y p11.2 1209044 1226548 - 7995165 8012671 + 8127124 8144630 + 12815422 378955 AC016749;NG_003083 1753515;2187959 G66125;SHGC-107423 pseudo HGNC:23918 INFERRED 1345287 RBMY2KP RNA binding motif protein, Y-linked, family 2, member K pseudogene Y Y Y p11.2 1074528 1089498 + 8132217 8147187 - 8264176 8279146 - 12815422 140100 ABBA01060216;ABBA01060217;ABBA01060218;ABBA01060219;AC051663;NG_003074 pseudo HGNC:23888 INFERRED 1350122 RBMY2MP RNA binding motif protein, Y-linked, family 2, member M pseudogene Y Y Y p11.2 437341 449467 - 8772259 8784385 + 8904218 8916344 + 12815422 140101 ABBA01060275;ABBA01060276;AC007967;NG_003075 pseudo HGNC:23889 INFERRED 1353982 RBMY2NP RNA binding motif protein, Y-linked, family 2, member N pseudogene Y Y Y p11.2 3007374 3011923 - 9669027 9673576 - 9831418 9835967 - 12815422;9847074 378956 ABBA01031143;AC006986;AC010891;NG_003084 1751991;1753089 SHGC-105961;SHGC-79815 pseudo HGNC:23919 INFERRED 1345272 RBMY2OP RNA binding motif protein, Y-linked, family 2, member O pseudogene Y Y Y p11.2 3127497 3135793 + 9789156 9797452 + 9951547 9959843 + 12815422 379005 ABBA01031149;AC006986;NG_003085 pseudo HGNC:23894 INFERRED 1347320 RBMY2QP RNA binding motif protein, Y-linked, family 2, member Q pseudogene Y Y Y p11.2 3198168 3211242 - 9859825 9872899 - 10022216 10035290 - 12815422 379006 ABBA01031155;ABBA01031156;AC006987;NG_003086 pseudo HGNC:23895 INFERRED 1604939 RBMY2SP RNA binding motif protein, Y-linked, family 2, member S pseudogene Y Y Y q11.223 8169263 8177538 + 23473047 23481321 + 21311161 21319435 + 12815422 379007 AC010086;NG_004832 2175450;5116948 G18231;sY946 pseudo HGNC:23896 VALIDATED 1604938 RBMY2TP RNA binding motif protein, Y-linked, family 2, member T pseudogene Y Y Y q11.222 8288422 8295445 - 23592210 23599233 - 21430324 21437347 - 12815422;8875892 379008 AC010086;NG_004832;U38459 AAB49829 pseudo HGNC:23897 VALIDATED 1604936 RBMY2VP RNA binding motif protein, Y-linked, family 2, member V pseudogene Y Y q11.223 24527713 24534243 + 22381566 22388096 + 12815422 379010 AC007320;NG_004755 pseudo HGNC:23899 VALIDATED 1604937 RBMY2UP RNA binding motif protein, Y-linked, family 2, member U pseudogene Y Y q11.223 24344469 24348024 + 22198322 22201877 + 12815422;9847074 379009 AC023342;AC025227;NG_004755 pseudo HGNC:23898 VALIDATED 1604935 RBMY2WP RNA binding motif protein, Y-linked, family 2, member W pseudogene Y Y q11.223 24908471 24916037 - 22762324 22769890 - 12815422 379011 AC010080;NG_004755 pseudo HGNC:23900 VALIDATED 1604933 RBMY2YP RNA binding motif protein, Y-linked, family 2, member Y pseudogene Y Y Y q11.223 10714587 10721505 - 27412627 27420192 + 25266480 25274045 + 12815422 379024 AC006386;NG_004755 pseudo HGNC:23902 VALIDATED 1349648 RBMY3AP RNA binding motif protein, Y-linked, family 3, member A pseudogene Y Y Y p11.2 3557425 3561857 - 9448330 9452762 - 9610721 9615153 - 12815422;9344660 64593 AC025819;NR_001573;U94385;U94386 Hs.404172 RBMY3P;RBMY4P;SPATA14 pseudo HGNC:23286 PROVISIONAL 734415 RBP2 retinol binding protein 2, cellular RBP2 is an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. RBP2 may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq, Jul 2008] 3 3 3 q23 137594686 137618327 - 139171726 139199662 - 139452884 139480820 - 1580863;6480464;6484679;8554872 21718801 10072590;1115525;11274389;12016134;12477932;1322170;1542003;15489334;15583024;15803180;1654334;17207965;18029348;18076076;19147806;19850045;20332121;20403997;21382444;23224553;23722541;23794145;23922798;24068396;2992469;3029082;7657783 5948 D6RB89;D6RGE6;P50120 ABBA01059063;AC097103;AI076320;AK291978;AMYH02007789;AMYH02007790;AW772327;BC069296;BC069361;BC069396;BC069424;BC069447;BC069469;BC069513;BC069522;BX282005;CH471052;NM_004164;U13831;XM_005247693;XM_006713722 AAC50162;AAH69296;AAH69361;AAH69396;AAH69424;AAH69447;AAH69469;AAH69513;AAH69522;ADQ32877;BAF84667;EAW79036;NP_004155;P50120;XP_005247750;XP_006713785 Hs.655516 1299921;1647983;1794422;5121002 D3S1764;PMC31117P1;SHGC-37045;STS-T63266 CRABP-II;CRBP2;CRBPII;RBPC2 CRBP-II;OTTHUMP00000217141;OTTHUMP00000217142;cellular retinol-binding protein II;retinol-binding protein 2;retinol-binding protein 2, cellular APPROVED protein-coding ENSG00000114113 HGNC:9920 07184 180280 REVIEWED 735986 RBP3 retinol binding protein 3, interstitial Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008] 10 10 10 q11.2 44805391 44814895 - 48381487 48390991 - 47348371 47357875 + 1580863;6480464;6893650;8547535;8547536;8699517;7240710;8554872 20212494;21447403;23701314 11161734;11511084;12477932;15710417;15713799;18266969;19074801;19193895;19823802;20301590;21067480;21613504;21697133;2303470;23486466;23882694;2402443;2542268;2792773;2907505;3170584;3455009;3743780;3827838;8702792 5949 P10745 AB593121;ABBA01000027;AL731561;AMYH02022898;BC039844;CH471251;J03912;J05253;M22453;M33875;NG_029718;NM_002900;X53044 AAA36126;AAA59188;AAA59453;AAC18875;AAH39844;BAJ84061;CAA37213;EAW50659;NP_002891;P10745 Hs.591928 1667281;1689400;1689542;1741107;2150933;2219614 GDB:177806;RBP3__5661;RH11133;RH29;RH80959;SGC31490 D10S64;D10S65;D10S66;IRBP;RBPI;RP66 OTTHUMP00000019536;interphotoreceptor retinoid-binding protein;interstitial retinol-binding protein;retinol-binding protein 3;retinol-binding protein 3, interstitial APPROVED protein-coding ENSG00000265203 HGNC:9921 01581 180290;615233 REVIEWED 1344722 RBP5 retinol binding protein 5, cellular ENCODES a protein that exhibits retinal binding (inferred); retinoid binding (inferred); retinol binding (inferred); INVOLVED IN transport (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 12 12 12 p13.31 8852489 8857661 - 7276280 7281466 - 7123684 7128870 - 1580863;6480464 11274389;12477932;12479570;14702039;15489334;17497168;19056867;19131338;21988832;8125298 83758 F5H2Q2;P82980 ABBA01012196;AC018653;AC233309;AF212239;AK096947;AK223378;AK311977;AMYH02025964;AY007436;BC029355;CH471116;NM_031491 AAG09617;AAH29355;AAK14925;ABM83539;ABM86779;BAD97098;BAG34916;EAW88681;EAW88682;NP_113679;P82980 Hs.246046 1657512;1693914;1700390;1775744;1794424;2123283;2125186;2180876;5093754 A009W06;D12S1953;G32904;G42647;PMC31117P2;RH103815;RH17505;RH78707;SGC34687 CRBP-III;CRBP3;CRBPIII HRBPiso;OTTHUMP00000238163;cellular retinol-binding protein III;putative cellular retinol-binding protein CRBP III;retinol-binding protein 5;retinol-binding protein 5, cellular protein-coding ENSG00000139194 HGNC:15847 17961 611866 PROVISIONAL 1348730 RBP7 retinol binding protein 7, cellular Due to its chemical instability and low solubility in aqueous solution, vitamin A requires cellular retinol-binding proteins (CRBPs), such as RBP7, for stability, internalization, intercellular transfer, homeostasis, and metabolism.[supplied by OMIM, May 2004] 1 1 1 p36.22 9168283 9187512 + 10057255 10076078 + 9997197 10016020 + 1580863;6480464;8554872 12177003;12477932;15489334;16710414;17207965 116362 B1AQ60;Q96R05 ABBA01035582;ABBA01035583;ABBA01035584;AF399927;AK312027;AL590639;AL603962;AMYH02000259;AY145438;BC033883;BC063013;CH471130;NM_052960 AAH33883;AAH63013;AAK85409;AAN61071;ADQ33098;BAG34964;EAW71637;EAW71638;NP_443192;Q96R05 Hs.422688 5037552 D8S2279 CRABP-IV;CRABP4;CRBP4;CRBPIV;MGC70641 OTTHUMP00000001729;OTTHUMP00000001730;cellular retinoic acid-binding protein 4;cellular retinoic acid-binding protein IV;putative cellular retinol-binding protein CRBP IV;retinoid binding protein 7;retinoid-binding protein 7 APPROVED protein-coding ENSG00000162444 HGNC:30316 16355 608604 PROVISIONAL 1347940 RBPJP1 RBPJ pseudogene 1 p13-p12 7873751;8406481;9290259 100310842 L07873;NG_013295 IGKJRBP1;RBPSUHP1 recombining binding protein suppressor of hairless (drosophila) pseudogene 1 pseudo HGNC:5725 INFERRED 1345408 RBPJP2 RBPJ pseudogene 2 9 9 q13 65972985 65975258 + 66635579 66637852 + 7873751;8406481;9290259 3517 AMYH02020689;CR788267;NG_001151 IGKJRBP2;RBPSUHP2 APPROVED pseudo HGNC:5726 INFERRED 1351653 RBPJP3 RBPJ pseudogene 3 p13 17361108;7873751 58164 L34543;NG_001292 K2;RBPSUHP3 recombining binding protein suppressor of hairless (drosophila) pseudogene 3 pseudo HGNC:13686 INFERRED 1604934 RBMY2XP RNA binding motif protein, Y-linked, family 2, member X pseudogene Y Y q11.223 26542224 26549780 - 24396077 24403633 - 12815422 379012 AC016698;NG_004755 pseudo HGNC:23901 VALIDATED 732391 RBP1 retinol binding protein 1, cellular This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 3 3 3 q23 137659177 137681571 - 139236276 139258671 - 139517434 139539829 - 1580863;6480464;6893650;6484672;6771322 15950969;21447403;21621639 10203351;11118440;11274389;12111198;12477932;12631600;12826154;12883492;1322170;1332671;15009723;15094224;15175163;15451426;15608670;15865448;16479010;1654334;17593084;18193082;18343808;19052772;19288010;19819239;19913121;19965581;20403997;20628086;21042705;21067480;21139048;21148318;21368206;21382444;21988832;22049223;22449228;22945948;23414180;23890161;24040446;24269351;24324551;24982334;2856408;2992469;3356192;3472205;7556191;7666002;8889548;9005841;9452451;9858824 5947 H0YAK8;P09455 ABBA01059063;AC046134;AK290315;AK309492;AMYH02007791;BC121052;BU734286;BX092411;CH471052;CR541979;CR542005;DC356836;DC394326;M11433;M36809;NM_001130992;NM_001130993;NM_002899;X07437;X07438 AAA35714;AAA60257;AAI21053;ACE86414;ACE87090;BAF83004;CAA30318;CAG46776;CAG46802;EAW79035;NP_001124464;NP_001124465;NP_002890;P09455 Hs.529571 1775153;1855922;1858325 D3S3890;SHGC-57604;WI-16259 CRABP-I;CRBP;CRBP-I;CRBP1;CRBPI;RBPC OTTHUMP00000208586;OTTHUMP00000217139;OTTHUMP00000225120;cellular retinol-binding protein I;retinol-binding protein 1;retinol-binding protein 1, cellular APPROVED protein-coding ENSG00000114115 HGNC:9919 07036 180260 REVIEWED 1349034 RBPJP4 RBPJ pseudogene 4 q13 7873751 58163 L34544;NG_001291 K7;RBPSUHP4 recombining binding protein suppressor of hairless (drosophila) pseudogene 4 pseudo HGNC:13687 INFERRED 2792835 RBPJP5 RBPJ pseudogene 5 9 9 p12 41884114 41886385 - 39739096 39741367 - 100288841 BX664615;NG_013296 pseudo HGNC:37485 INFERRED 2974955 RBPJP6 RBPJ pseudogene 6 9 9 p11.2 44471796 44474066 + 42497053 42499323 - 643198 AMYH02020231;BX088651;NG_013297 pseudo HGNC:37486 INFERRED 2797096 RBPJP7 RBPJ pseudogene 7 9 9 p11.2 46912353 46914628 + 62601052 62603327 + 100133122 AMYH02020576;BX005266;NG_013298 pseudo HGNC:37487 INFERRED 7246835 RBPMS-AS1 RBPMS antisense RNA 1 8 8 8 p12 29199535 29206811 - 30239635 30242917 - 30382119 30385401 - 16341674 100128750 AA931221;ABBA01023666;ABBA01023667;AC109329;AK057935;AMYH02017714;BM845627;HG501029;HG501031;NG_029534;NR_046205 Hs.126813 2112276;2112312 D8S2248;D8S2274 ncrna ENSG00000254109 HGNC:48721 VALIDATED 8656985 RBPMS2P1 RBPMS2 pseudogene 1 6 6 6 74260394 74261010 - 73867243 73867859 - 73157520 73158136 - 100421512 ABBA01040303;AL365232;AMYH02013903;NG_025832 pseudo HGNC:50509 INFERRED 1351025 RBPMS2 RNA binding protein with multiple splicing 2 ENCODES a protein that exhibits nucleic acid binding (inferred); nucleotide binding (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; atrazine 15 15 15 q22.31 41909544 41945178 - 65032093 65067770 - 64739894 64775571 - 6480464 12477932;14702039;17986458;21890473;22683258;23295309 348093 A2RRG0;Q6ZRY4 ABBA01038873;AC091582;AC100830;AK124123;AK127873;AMYH02030613;AY369207;BC131612;BC148208;CH471082;NM_194272 AAI31613;AAI72373;AAQ73311;BAC87172;EAW77693;NP_919248;Q6ZRY4 Hs.436518 2118246 RH44199 RNA-binding protein with multiple splicing 2 protein-coding ENSG00000166831 HGNC:19098 18601 PROVISIONAL 1312429 RBPJL recombination signal binding protein for immunoglobulin kappa J region-like This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 q13.12 40644024 40654993 + 43935483 43946464 + 45306843 45317824 + 1580863;6480464;6907045;8554872 11780052;12477932;16344560;16354684;21832049;9111338;9929984 11317 Q5QPV1;Q9UBG7 AB024964;AB026048;AB027710;ABBA01052660;AL021578;AMYH02037149;BC030213;BM311999;CA950939;CH471077;DA045470;NM_001281448;NM_001281449;NM_014276 AAI52896;AAI56876;BAA86121;BAA87051;BAA88232;EAW75863;EAW75864;EAW75865;NP_001268377;NP_001268378;NP_055091;Q9UBG7 Hs.248217;Hs.278489 2108415 RBPSUHL_9260 RBP-L;RBPSUHL;SUH;SUHL OTTHUMP00000031708;OTTHUMP00000031709;OTTHUMP00000031710;recombining binding protein suppressor of hairless (drosophila)-like;recombining binding protein suppressor of hairless-like protein;transcription factor RBP-L APPROVED protein-coding ENSG00000124232 HGNC:13761 10187 REVIEWED 1349749 RBPMSLP RNA binding protein with multiple splicing-like pseudogene 21 21 q11 17116323 17116647 - 15744004 15744328 - 10830953 54032 ABBA01057088;AJ010597;AMYH02037530;NG_028762 pseudo HGNC:9923 INFERRED 1342648 RBPMS RNA binding protein with multiple splicing This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013] 8 8 8 p12 29200833 29388215 + 30242017 30429778 + 30384501 30572261 + 1580863;6480464 12477932;14702039;14759258;15146197;15489334;16189514;16713569;17099224;20379614;22174390;22234250;23088713;24722188;8855282 11030 B4E3T4;D3DSV0;E5RFP4;E5RJ31;E5RJD7;H0YBU9;H0YC46;Q93062 ABBA01023663;ABBA01023664;ABBA01023665;ABBA01023666;AC011204;AC102945;AC109329;AI025136;AK024192;AK057533;AK098281;AK304858;AK310533;AMYH02017714;AMYH02017715;AMYH02017716;BC003608;BC063494;BC092476;BE733116;BG480355;BX097929;CA425568;CD518168;CH471080;CN360712;CX165198;CX781149;D84107;D84108;D84109;D84110;D84111;KF510316;N88549;NG_029534;NM_001008710;NM_001008711;NM_001008712;NM_006867;XM_005273386;XM_005273390;XM_006716277;XM_006716278;XM_006716279;XR_428303;XR_428304;XR_428305 AAH03608;AAH92476;BAA12225;BAA12226;BAA12227;BAA12228;BAA12229;BAG65596;EAW63451;EAW63453;EAW63454;EAW63459;EAW63460;EAW63461;EAW63462;NP_001008710;NP_001008711;NP_001008712;NP_006858;Q93062;XP_005273443;XP_005273447;XP_006716340;XP_006716341;XP_006716342 Hs.334587 1335283;1653100;1674165;1699718;1736708;2112020;2112026;2112036;2112070;2112072;2112246;2112250;2112278;2112280;2112282;2112284;2112286;2112292;2112294;2112318;2112320;2112350;2133746;2145181;2175330;5037512;5037552 D8S1445;D8S2142;D8S2148;D8S2154;D8S2160;D8S2198;D8S2200;D8S2215;D8S2238;D8S2239;D8S2243;D8S2244;D8S2245;D8S2246;D8S2247;D8S2262;D8S2264;D8S2279;D8S2280;D8S2281;D8S339;G32178;RH103464;RH45543;RH68904;SHGC-30104;SHGC-34085 FLJ32971;RBP-MS HERMES;OTTHUMP00000225128;OTTHUMP00000225369;OTTHUMP00000225370;OTTHUMP00000225371;OTTHUMP00000225378;RNA-binding protein with multiple splicing;heart and RRM expressed sequence APPROVED protein-coding ENSG00000157110 HGNC:19097 11870 601558 REVIEWED 1343007 RBS Roberts syndrome 5951 HGNC:9924 1344319 RCA1 renal carcinoma, familial, associated 1 ASSOCIATED WITH Carcinoma, Renal Cell (inferred) 7240710 7690964 HGNC:9929 144700 1321529 RBPJ recombination signal binding protein for immunoglobulin kappa J region The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013] 4 4 4 p15.2 26771681 26884040 + 26165077 26436753 + 26163494 26435131 + 1581297;2302204;2306423;6480464;6484113;6907045;8699517;8554872;7240710 10600520;15247148;17761886 10508479;10637481;10644367;10708423;10713164;10747963;11390662;11404076;11509665;11518718;11748221;11997524;12374742;12477932;12644465;12832621;14570916;14611647;14645224;14701863;14702039;14999091;15187023;15194757;15489334;15546612;15710417;15987768;16287852;16354684;16378632;16399505;16439682;16510869;16530044;16763620;16873269;17055026;17070841;17245125;17284587;17434929;17513037;17513780;17526737;17636029;18155729;18239137;18332109;18663143;19147558;19237563;19240061;19247952;19322201;19487031;19503073;19776126;19800882;19838210;19939918;19969318;20006367;20028974;20231316;20346360;20379614;20453842;20511547;21150319;21440926;21507979;21518914;21558417;21737748;21820430;21832049;21880753;21900206;21988832;21991380;22100894;22143792;22253595;22279058;22279105;22302987;22325781;22366521;22379092;22792167;22883147;22915591;23022380;23103515;23365452;23696732;23775085;24449572;24696491;2556644;7625272;7651391;8406481;8676443;8749394;8889548;8895530;9032325;9111040;9290259;9694793;9874765 3516 D6R927;D6R946;D6R9K5;D6R9X3;D6RA45;D6RAT2;D6RB37;D6RBQ8;D6RCM1;D6RE93;D6REC2;D6REP3;D6RF98;D6RIV8;D6RIZ8;H0Y8R3;Q06330 ABBA01032721;ABBA01032722;ABBA01032723;ABBA01032724;ABBA01032725;ABBA01032726;AC093637;AC097109;AC097714;AC111003;AF086058;AK056944;AK126357;AK302230;AK303244;AK311419;AL600045;AMYH02008924;AMYH02008925;AMYH02008926;BC020780;BC053531;BC053568;BC064976;BE269143;BM472788;BM555733;BM560796;BM680668;BQ216033;CD653684;CH471069;D14041;DC361185;DC389691;L07872;L07874;L07875;L07876;L08904;NG_030343;NM_005349;NM_015874;NM_203283;NM_203284;XM_005248161;XM_006713962;XM_006713963;XM_006713964;Z36843 AAA16253;AAA16254;AAA16356;AAA60258;AAA91836;AAH20780;AAH64976;ABZ92014;ACE87806;ACT64469;BAA21773;BAG63584;BAH13924;EAW92846;EAW92847;EAW92848;EAW92849;NP_005340;NP_056958;NP_976028;NP_976029;Q06330;XP_005248218;XP_006714025;XP_006714026;XP_006714027 Hs.479396 1645139;1670760;1673434;1677712;1695136;1754719;2145722;2154171;2166859;2180365;2218802;5015861;5024609;5111933;7185938 D10S16;D4S858;G43168;G48208;RBPSUH_4000;RH35837;SHGC-133079;SHGC-59196;SHGC-59198;SHGC-64083;SHGC-67311;SHGC-67732;SHGC-67733;STS-T67414 AOS3;CBF-1;CBF1;IGKJRB;IGKJRB1;KBF2;MGC61669;RBP-J;RBP-J kappa;RBP-JK;RBPJK;RBPSUH;SUH;csl H-2K binding factor-2;OTTHUMP00000123439;OTTHUMP00000123440;OTTHUMP00000123441;OTTHUMP00000217971;OTTHUMP00000217972;OTTHUMP00000217973;OTTHUMP00000218678;immunoglobulin kappa J region recombination signal binding protein 1;j kappa-recombination signal-binding protein;recombining binding protein suppressor of hairless;recombining binding protein suppressor of hairless (drosophila);renal carcinoma antigen NY-REN-30;suppressor of hairless homolog APPROVED protein-coding ENSG00000168214 HGNC:5724 00920 147183;614814 REVIEWED 1604740 RC3H1 ring finger and CCCH-type domains 1 This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 q25.1 147009820 147071680 - 173900352 173962210 - 173919053 173993072 - 6480464 12477932;14702039;15917799;16710414;18172933;19217324;20412057;20467438;21844204;22685317;22939629;23550652;23583642;23663784;23825522;24550385;24816145;25026078 149041 B9EGU6;Q5TC82 AB095945;ABBA01027891;ABBA01027892;ABBA01027893;ABBA01027894;AK093501;AK122948;AL121983;AL136170;AMYH02002159;AMYH02002160;AMYH02002161;AMYH02002162;AMYH02002163;AMYH02002164;AY726570;BC136784;BC144408;BX537597;CH471067;NM_001300850;NM_001300851;NM_001300852;NM_172071;XM_005244918;XM_005244919;XM_005244920;XM_005244921;XM_006711183 AAI36785;AAI44409;BAC04186;BAC23121;BAG53813;EAW90972;NP_001287779;NP_001287780;NP_001287781;NP_742068;Q5TC82;XP_005244975;XP_005244976;XP_005244977;XP_005244978;XP_006711246 Hs.30258 1695402;1727437;1750279;1778326;2142727;2147627;2152161;5022651 D11S2921;D1S2558;G34833;G62976;RH47358;SHGC-112502;SHGC-36961;SHGC-68518 KIAA2025;RNF198;RP5-1198E17.5 OTTHUMP00000035392;OTTHUMP00000035394;RING finger and C3H zinc finger protein 1;RING finger and CCCH-type zinc finger domain-containing protein 1;RING finger protein 198;probable E3 ubiquitin-protein ligase Roquin;ring finger and CCCH-type zinc finger domains 1;roquin;roquin-1 APPROVED protein-coding ENSG00000135870 HGNC:29434 13913 609424 REVIEWED 69211 RCAN2 regulator of calcineurin 2 This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 6 6 6 p12.3 47741020 47846061 - 46188467 46459804 - 46220730 46492067 - 1580863;6480464;8554872 10722714;10756093;10861295;12102656;12477932;14702039;15342556;16344560;17610901;19819266;20379614;21988832;8662924;8889548 10231 B2R612;Q14206 ABBA01050620;ABBA01050621;AI813911;AK090990;AK312392;AL359633;AL390741;AL589903;AMYH02013681;AMYH02013682;AMYH02013683;AY034085;AY034086;BC038509;BM728501;BP264912;BU069906;CH471081;D83407;DA106611;DA113879;DA207634;DA409014;DB289594;NG_030437;NM_001251973;NM_001251974;NM_005822;XM_006714948 AAH38509;AAK59805;AAK59806;ABM82584;ABM85771;BAA11911;BAG35309;BAG52258;EAX04294;NP_001238902;NP_001238903;NP_005813;Q14206;XP_006715011 Hs.440168;Hs.710016 1655862;1684728;2118410;2218514 DSCR1L1__4779;RH70113;RH80775;STS-W69771 CSP2;DSCR1L1;MCIP2;RCN2;ZAKI-4;ZAKI4;hRCN2 Calcipressin 2 (Thyroid hormone-responsive protein ZAKI-4) (Down syndrome candidate region 1-like 1) (Myocyte-enriched calcineurin interacting protein 2) (MCIP2);Down syndrome candidate region 1-like 1;Down syndrome critical region gene 1-like 1;OTTHUMP00000016544;OTTHUMP00000016545;OTTHUMP00000016546;calcipressin-2;myocyte-enriched calcineurin-interacting protein 2;thyroid hormone-responsive (skin fibroblasts);thyroid hormone-responsive protein ZAKI-4 APPROVED protein-coding ENSG00000172348 HGNC:3041 05342 604876 REVIEWED 5509630 RCAN3AS RCAN3 antisense 1 1 p36.11 24822823 24828850 - 24496333 24502360 - 21042787;21961037 100750325 ABBA01059905;AL031431;AL034582;AMYH02000519;HQ317425;HQ317448;KF495888;NR_045407;NR_045408;NR_045409 Hs.399958 ncrna HGNC:39009 VALIDATED 1318252 RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008] 13 13 13 q14 31161034 31214651 - 50106082 50159742 - 49531946 49585587 - 1580863;6480464;7240710 11076863;11230166;11256614;11306461;12477932;14565662;14702039;14985364;15057823;15489336;16381901;19256485;20085599;20926398;21145461;21832049;21906983;22939624;24202307 55213 B3KR20;Q8NDN9 AB209222;ABBA01051019;AF334406;AI079751;AJ319660;AK001578;AK090807;AK096654;AL139321;AL833821;AMYH02028012;BC038104;CH471075;NM_018191;XM_005266441;XM_006719843;XR_245392 AAH38104;AAK38372;BAA91768;BAC04833;BAD92459;BAG52232;CAC40027;CAD38683;CAL37574;EAX08829;NP_060661;Q8NDN9;XP_005266498;XP_006719906 Hs.508021 1736324;1758487;1774138;1846865;1846867;2162267;2183002;2183473 A005Y31;D13S827E;G20600;RH44560;RH65835;SGC34714;SHGC-148453;WI-12423 CLLD7;CLLL7;GLP;MGC33184;RP11-185C18.1 CLL deletion region gene 7 protein;GDP/GTP exchange factor (GEF)-like protein;OTTHUMP00000018413;RCC1 and BTB domain-containing protein 1;chronic lymphocytic leukemia deletion region gene 7 protein;regulator of chromosome condensation and BTB domain-containing protein 1 APPROVED protein-coding ENSG00000136144 HGNC:18243 09713 103780;607867 REVIEWED 1351172 RCBTB2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] 13 13 13 q14.3 30117817 30162082 - 49063099 49107341 - 48488963 48533256 - 1302754;1580863;6480464;8554872 9806834 12115502;12477932;12886522;14504426;14702039;15057823;15489334;16189514;18353163;19256485;20379614;20568903;22939624;24250222;24722188 1102 B4DPP7;B4DWG0;B4E372;O95199;Q59FB7 AB209543;ABBA01051006;ABBA01051007;ABBA01051008;ABBA01051009;AF060219;AK023010;AK122778;AK298438;AK301516;AK304598;AK310081;AK315703;AL157813;AMYH02028004;AY341245;BC029052;BC031965;BG772479;CH471075;DB497652;HI574080;NM_001268;NM_001286830;NM_001286831;NM_001286832;XM_005266242;XM_005266244;XM_006719758;XM_006719759 AAC79987;AAH29052;AAP88928;ABM81744;ABM87806;BAD92780;BAG38065;BAG51149;BAG53723;BAG60659;BAG63022;BAG65384;CBX47529;EAX08799;EAX08800;NP_001259;NP_001273759;NP_001273760;NP_001273761;O95199;XP_005266299;XP_005266301;XP_006719821;XP_006719822 Hs.652712 1739621;1739975;1752569;2108725;2140125;2179167;2183082 CHC1L_8251;D13S1211E;D13S1218;D13S915;RH77866;SHGC-106473;WI-17332 CHC1-L;CHC1L;RLG OTTHUMP00000018399;RCC1 and BTB domain-containing protein 2;RCC1-like G exchanging factor RLG;chromosome condensation 1-like;regulator of chromosome condensation and BTB domain containing protein 2;regulator of chromosome condensation and BTB domain-containing protein 2 APPROVED protein-coding ENSG00000136161 HGNC:1914 04631 603524 REVIEWED 1312502 RC3H2 ring finger and CCCH-type domains 2 ENCODES a protein that exhibits DNA binding; poly(A) RNA binding; ubiquitin-protein transferase activity; INVOLVED IN protein polyubiquitination; FOUND IN cell surface; cytoplasm; membrane; INTERACTS WITH 17beta-estradiol; isotretinoin; methyl methanesulfonate 9 9 9 q34 96260078 96315869 - 125606835 125667562 - 122849453 122905283 - 6480464 10938276;12477932;14702039;15489334;19322201;19549727;22493164;24816145;8125298 54542 A6NHN2;H0Y5D9;Q4VXB0;Q4VXB2;Q9HBD1 ABBA01043717;ABBA01043718;AC007066;AF255303;AF255304;AK000308;AK000720;AK027042;AK123569;AK125196;AK226010;AL359512;AL833177;AL833455;AL834431;AMYH02021594;AMYH02021595;AW291376;AX375155;BC011688;BC044642;BU783286;CH471090;NM_001100588;NM_018835 AAG00432;AAG00433;AAH11688;AAH44642;BAA91073;BAA91340;BAB15634;CAD26769;CAD39091;CAI46182;EAW87547;EAW87548;EAW87549;EAW87550;EAW87551;NP_001094058;NP_061323;Q9HBD1 Hs.533499;Hs.709775 2170438 STS-AA007369 FLJ20301;FLJ20713;MGC52176;MNAB;RNF164 OTTHUMP00000022076;OTTHUMP00000022077;RING finger and CCCH-type zinc finger domain-containing protein 2;RING finger protein 164;membrane associated DNA binding protein;membrane-associated nucleic acid binding protein;membrane-associated nucleic acid-binding protein;ring finger and CCCH-type zinc finger domains 2;roquin-2 APPROVED protein-coding ENSG00000056586 HGNC:21461 14726 615231 VALIDATED 7241791 RCBTB2P1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 pseudogene 1 10 10 10 q23.31 84292188 84293627 - 90545355 90546794 - 88784171 88787426 - 100130253 ABBA01021953;AL358532;AMYH02023504;NG_022152 1787814 SHGC-173277 pseudo HGNC:45167 INFERRED 1323485 RCAN3 RCAN family member 3 ENCODES a protein that exhibits troponin I binding; INVOLVED IN anatomical structure morphogenesis (inferred); calcium-mediated signaling (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; copper(2+) sulfate 1 1 1 p35.3-p33 23156569 23189587 + 24828841 24863510 + 24502351 24537020 + 1580863;6480464 10756093;12477932;15342556;15489334;16516408;16710414;17081983;17270291;18022329;19074885;19819266;21042787;21961037;24250222 11123 H0YF64;Q5TGC7;Q9UKA8 ABBA01059905;ABBA01059906;ABBA01059907;AF176116;AF176117;AI697154;AL034582;AMYH02000519;AMYH02000520;AY906854;BC035854;BP326714;BX105019;CH471134;CT001954;CX752875;EF431960;EF467309;EF529733;GQ411200;HQ287726;HQ317421;HQ317422;HQ317423;HQ317426;HQ317427;HQ317445;HQ317446;JN203053;JN228252;NM_001251977;NM_001251978;NM_001251979;NM_001251980;NM_001251981;NM_001251982;NM_001251983;NM_001251984;NM_001251985;NM_013441 AAF01684;AAF01685;AAH35854;AAW83514;ABM83360;ABM86571;ABO27184;ABO46010;ABP88933;ACV31394;ADO15700;ADR02808;ADR02809;ADR51177;ADR51178;ADR51179;ADR51182;ADR51183;AEL12453;AEL88283;EAW95132;EAW95133;EAW95134;NP_001238906;NP_001238907;NP_001238908;NP_001238909;NP_001238910;NP_001238911;NP_001238912;NP_001238913;NP_001238914;NP_038469;Q9UKA8 Hs.656799;Hs.737226 1335051;1692450;2110379 AL033875;D1S2674;DSCR1L2__4780 DSCR1L2;MCIP3;RCN3;hRCN3 Down syndrome candidate region 1-like 2;Down syndrome critical region gene 1-like 2;OTTHUMP00000003336;calcipressin-3;down syndrome candidate region 1-like protein 2;myocyte-enriched calcineurin-interacting protein 3;regulator of calcineurin 3;regulator of calcineurin 3 isoform 1,3,4,5;regulator of calcineurin 3 isoform 1a,2,3,4;regulator of calcineurin 3 isoform 1a,2,3,4,5;regulator of calcineurin 3 isoform 1a,3,4,5;regulator of calcineurin 3 isoform 1b,2;regulator of calcineurin 3 isoform 1b,2,3,4,5;regulator of calcineurin 3 isoform 1c,2,3,4,5;regulator of calcineurin 3 isoform 1c,3,4,5 protein-coding ENSG00000117602 HGNC:3042 05792 605860 VALIDATED 1603393 RCC2 regulator of chromosome condensation 2 ENCODES a protein that exhibits microtubule binding; poly(A) RNA binding; Rac GTPase binding; INVOLVED IN chromosome passenger complex localization to kinetochore; focal adhesion assembly; integrin-mediated signaling pathway; FOUND IN chromosome, centromeric core domain; midbody; mitotic spindle midzone; INTERACTS WITH 2-methylcholine; aflatoxin B1; atrazine 1 1 1 p36.13 16058375 16091346 - 17733251 17766250 - 17406755 17439754 - 6480464 10819331;12429849;12477932;12919680;15249581;15489334;16055720;16751776;17081983;18849993;19322201;1939370;19738201;20639865;20873769;21139048;21252943;21319273;21890473;21906983;21907836;21963094;22053931;22282019;22505724;22586326;22863883;22939629;22944692;23000965;23388455;23442884;24403052;24591637;24816145;7559776;9914378 55920 Q9P258 AB040903;ABBA01000270;ABBA01000271;ABBA01000272;AC004824;AJ421269;AK026005;AL359612;AMYH02000394;BC004933;BC042141;BC053908;BC142946;BQ774471;CH471134;CR991144;DR000303;NM_001136204;NM_018715 AAH04933;AAH42141;AAH53908;AAI42947;BAA95994;CAB94882;CAD13148;EAW94838;EAW94839;NP_001129676;NP_061185;Q9P258 Hs.380857 1679279;5016842;5110880 G22339;RH47145;RH68854 DKFZp762N0610;KIAA1470;TD-60 OTTHUMP00000002613;OTTHUMP00000002614;RCC1-like protein TD-60;telophase disk protein of 60 kDa protein-coding ENSG00000179051 HGNC:30297 18171 609587 VALIDATED 2802295 RCC2P1 regulator of chromosome condensation 2 pseudogene 1 1 Y Y q11.21 216305476 216307087 - 13901762 13903233 - 11781056 11782527 - 650983 AC011293;NG_028686 pseudo HGNC:37710 INFERRED 735348 RCAN1 regulator of calcineurin 1 The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] 21 21 21 q22.12 21088350 21186950 - 35888782 35987382 - 34516442 34615142 - 734902;1580889;1581652;1580863;6480464 11483593;12515860;16415348 10722714;10830953;10861295;12063245;12225619;12477932;12809556;14702039;15009650;15016650;15256217;15263820;15264020;15358155;15448146;15489334;15935327;16109302;16126726;16231093;16344560;16406492;16442855;16627481;16919501;17062574;17114339;17207965;17331188;17565986;17596961;17610901;17693409;17910944;18056702;18180251;18294449;18321953;18485898;18575781;18840614;19074885;19270310;19306109;19331211;19332797;19458618;19509306;19619541;19716405;19755121;19819266;19926569;20008143;20298200;20379614;21172821;21216952;21680892;21832049;21838211;21876249;21965663;22256743;22293192;22426484;22863780;23028325;23038757;23118980;23144708;23185487;23317802;23644448;8595418;8619474;9110174;9325060 1827 E9PD55;P53805;Q6FGP2;Q6ZMM3;V9GYW9 ABBA01057368;AF303449;AF400429;AI079710;AK055845;AK092184;AK131569;AK293293;AK299444;AL556803;AMYH02037755;AMYH02037756;AP000326;AP000327;AY325903;BC002864;BT007363;BX419260;CH471079;CR456878;CR542065;DA503835;DA586027;DB023862;DC331441;KF457235;KF510543;KF510549;KF511407;NG_007071;NM_001285389;NM_001285391;NM_001285392;NM_001285393;NM_004414;NM_203417;NM_203418;U28833;U53821;U85265;U85266;U85267;XM_005260929;XM_005260930 AAB81557;AAB84370;AAB84371;AAB84372;AAF21218;AAG40774;AAH02864;AAK92478;AAP36027;AAP96743;ADQ32824;BAD18702;BAG52494;BAH11486;BAH13035;CAG33159;CAG46862;EAX09777;EAX09778;EAX09779;EAX09780;EAX09781;EAX09782;NP_001272318;NP_001272320;NP_001272321;NP_001272322;NP_004405;NP_981962;NP_981963;P53805;XP_005260986;XP_005260987 Hs.282326 1685051;1713069;1725031;1730654;1730662;1730668;1757519;1759881;1773532;2107025;2183723;5037552 A005E07;D21S323;D21S327;D21S331;D8S2279;DSCR1_7784;RH118812;RH120322;SHGC-144954;SHGC-170121;SHGC-6887;STS-U28833 ADAPT78;CSP1;DSC1;DSCR1;MCIP1;RCN1 Down syndrome candidate region 1;Down syndrome critical region gene 1;OTTHUMP00000108619;OTTHUMP00000108620;OTTHUMP00000108621;OTTHUMP00000108622;OTTHUMP00000214669;OTTHUMP00000214670;calcipressin-1;calcium and oxidant-inducible mRNA;down syndrome critical region homolog 1 (human);down syndrome critical region protein 1;modulatory calcineurin-interacting protein 1;myocyte-enriched calcineurin-interacting protein 1;near DSCR proline-rich protein APPROVED protein-coding ENSG00000159200 HGNC:3040 04226 602917 REVIEWED 3003933 RCC2P2 regulator of chromosome condensation 2 pseudogene 2 Y Y Y 5623789 5625074 + 22148474 22149759 - 19986588 19987873 - 100421075 ABBA01073819;AC009233;NG_021918 2189059 G65916 pseudo HGNC:38419 INFERRED 5135098 RCC2P4 regulator of chromosome condensation 2 pseudogene 4 3 3 3 124909570 124910608 - 126485280 126486318 - 126766437 126767475 - 100421090 ABBA01016385;AC078867;AMYH02007594;NG_025617 pseudo HGNC:42380 INFERRED 1318229 RBX1 ring-box 1, E3 ubiquitin protein ligase This locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[provided by RefSeq, Sep 2010] 22 22 22 q13.2 25151059 25172347 + 41347351 41369019 + 40951347 40973015 + 1559296;1559277;6480464;6483358;6907045;5490225;8554872 15021886;15966899;19364912;21135871 10213691;10213692;10230406;10230407;10531037;10579999;10591208;10643962;10648623;10713156;10748083;11027288;11245432;11311237;11337588;11359933;11384984;11463388;11483504;11565034;11574546;11675391;11717410;11861641;11956208;11961546;12048197;12140560;12149480;12435635;12477932;12481031;12504025;12504026;12565873;12604794;12609982;12628165;12684064;12706828;12732143;12813041;12840033;12904573;12925736;14532120;14564014;14578910;14676825;14702039;14739464;14960280;15103331;15107402;15118074;15327770;15361859;15448697;15452136;15461802;15489334;15574593;15601820;15601839;15781449;15965468;15983046;16009132;16123585;16123592;16142236;16260596;16261165;16275327;16322693;16325183;16338364;16344560;16357137;16410731;16473935;16503656;16547496;16678110;16714087;16759355;16856496;16861890;17028207;17046835;17069461;17079684;17098746;17116465;17132228;17183367;17205132;17217622;17332328;17353931;17360488;17429597;17452440;17543862;17609381;17636018;17965458;18203720;18239684;18247557;18279656;18332868;18381890;18429817;18498745;18593899;18660753;18723677;18765672;18775313;18789977;18794347;18805092;18809579;18826954;18851830;19112177;19193609;19240029;19250909;19256485;19287380;19295130;19322201;19327355;19398581;19412162;19509229;19509332;19557001;19581926;19617556;19723642;19762597;19818716;19933270;19935701;19995937;20027226;20086098;20160477;20174454;20181953;20181957;20223979;20353940;20368362;20389280;20421418;20452971;20551172;20596027;20625400;20638939;20663873;20832730;20852628;20854419;20870715;21098278;21115485;21130766;21139048;21169563;21205095;21220517;21226479;21228219;21242966;21300445;21487039;21572392;21577200;21640084;21765416;21778237;21807946;21822215;21828050;21832049;21840486;21841822;21890473;21900206;21988832;22017877;22113614;22118460;22118674;22157821;22323446;22334663;22388891;22405651;22448038;22474075;22493164;22505724;22537386;22553175;22558124;22570418;22669845;22711876;22748924;22767593;22822056;22863883;22912744;22935614;22936669;22952844;23000965;23045529;23085759;23086937;23274085;23297342;23322298;23357576;23370391;23387299;23401859;23443559;23453757;23455478;23478441;23589337;23607312;23609182;23677995;23910095;23940030;23962426;24127568;24129577;24145166;24157836;24192928;24250222;24298020;24316736;24318128;24362026;24469044;24657926;24816145;24912918;24949976;25043012 9978 P62877 ABBA01055612;ABBA01055613;ABBA01055614;AF085906;AF140598;AF142059;AK090764;AK315722;AL080242;AMYH02038425;AY099360;BC001466;BC017370;CH471095;CR456560;DA353856;DN602016;GM863522;JC212141;NM_014248 AAD29715;AAD30146;AAH01466;AAH17370;AAM21718;BAG38078;CAG30446;CAK54591;CAK54890;CAT16469;CDM22122;EAW60402;EAW60403;NP_055063;P62877 Hs.474949 2117491 SHGC-34633 BA554C12.1;FLJ60363;MGC13357;MGC1481;RNF75;ROC1 E3 ubiquitin-protein ligase RBX1;OTTHUMP00000199764;RING box protein 1;RING finger protein 75;RING-box protein 1;ZYP protein;regulator of cullins 1 APPROVED protein-coding HGNC:9928 06794 603814 REVIEWED 5135105 RCC2P5 regulator of chromosome condensation 2 pseudogene 5 3 3 3 q11.2 94860273 94861776 + 96472025 96473528 + 96753181 96754684 + 100131442 ABBA01026945;AC109782;AMYH02007279;NG_022256 pseudo HGNC:42381 INFERRED 5135097 RCC2P6 regulator of chromosome condensation 2 pseudogene 6 11 11 11 59468844 59470050 + 62139438 62140644 + 62371966 62373172 + 100421131 ABBA01003222;AP003064;NG_024523 pseudo HGNC:42382 INFERRED 1343250 RCC1 regulator of chromosome condensation 1 ENCODES a protein that exhibits chromatin binding; histone binding; nucleosomal DNA binding; INVOLVED IN chromosome segregation; G1/S transition of mitotic cell cycle; mitotic spindle organization; FOUND IN condensed nuclear chromosome; cytoplasm; nuclear chromatin; INTERACTS WITH 2-methylcholine; 5-fluorouracil; all-trans-retinoic acid 1 1 1 p36.1 27228232 27261474 + 28832455 28865708 + 28505943 28539196 + 1580863;6480464 10089422;10369786;10744690;10811801;10811825;10827954;10875935;11310559;11336674;11375490;11932251;12062430;12194828;12477932;14565978;15014043;15302935;15489334;15635413;16052169;16196087;16407974;16820410;16964243;17081983;17158748;17251553;17435751;1769659;17855385;18029348;18439570;18442486;18568422;18617507;18712773;18762580;18850631;19060893;1944575;1961752;19738201;20347844;20565941;20668449;21110914;21139048;21890473;21900206;21906983;21907836;21963094;22053931;22178446;22215983;2236072;22623428;22939629;22944692;23536659;23752268;24457600;24583282;24654937;25027693;2677018;3678831;7616957;7851910;7882974;7891706;7983178;7988569;8896453;9510255;9637251 1104 C9J3R0;C9JMJ4;C9JQZ4;C9JRH2;C9JW69;M0R1Q8;P18754;Q5T081 ABBA01035034;ABBA01035035;ABBA01035036;AF498924;AI198971;AL513497;AMYH02000629;AMYH02000630;BC001589;BC010067;BC069198;BF590413;BF667678;BM546148;BQ436549;BU501614;BU622451;BX109495;CB985055;CH471059;CR407693;CV811053;D00591;NM_001048194;NM_001048195;NM_001048199;NM_001269;NR_030725;NR_030726;S75708;X12654 AAB32653;AAH10067;AAH69198;AAM21072;ABM84079;ABM87759;BAA00469;CAA31182;CAG28621;EAX07690;EAX07691;EAX07692;EAX07693;EAX07694;EAX07695;NP_001041659;NP_001041660;NP_001041664;NP_001260;P18754 Hs.469723 1656082;1698958;1767391;1789304;1854138;2116747;2133826;2133828;2170207;2182354;5018033;5093636 A009U10;D1S3211;G32835;G34830;G67872;PRDX3-1;RH103048;RH68391;SHGC-32496;SHGC-36606;SHGC-56851;SHGC-74505 CHC1;RCC1-I;SNHG3-RCC1 OTTHUMP00000003775;OTTHUMP00000003777;OTTHUMP00000211004;OTTHUMP00000211005;OTTHUMP00000211006;OTTHUMP00000211007;OTTHUMP00000211009;SNHG3-RCC1 readthrough;SNHG3-RCC1 readthrough transcript;cell cycle regulatory protein;chromosome condensation 1;chromosome condensation protein 1;guanine nucleotide-releasing protein;regulator of chromosome condensation protein-coding ENSG00000180198 HGNC:1913 01559 179710 VALIDATED 1605899 RCCD1 RCC1 domain containing 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; plasma membrane; INTERACTS WITH 5-aza-2'-deoxycytidine; calcitriol; cisplatin 15 15 15 q26.1 67907324 67915571 + 91498106 91506355 + 90954875 90973158 + 6480464;8554872 12477932;14702039;15489334;16572171;18029348;21139048;21890473;21906983;21963094;21987572;22505724;22939629;24816145 91433 A6NED2;G3V2I3;G3V3Q4 AA564459;ABBA01053073;AC068831;AK092661;AL110104;AL110105;AL527085;AMYH02031056;BC008845;BC064606;BC094739;BC113826;BC140708;BC140709;BQ924078;BU850147;BX375216;CH471101;NM_001017919;NM_033544;XM_006720763 A6NED2;AAI13827;AAI40709;AAI40710;EAX02130;EAX02131;EAX02132;NP_001017919;NP_291022;XP_006720826 Hs.655895 2147165;2161868;2181939 A003P05;D15S1226;RH44518 MGC14386 OTTHUMP00000246698;OTTHUMP00000246699;OTTHUMP00000246700;OTTHUMP00000246701;RCC1 domain-containing protein 1 protein-coding ENSG00000166965 HGNC:30457 18706 VALIDATED 1346588 RCD1 retinal cone dystrophy 1 ASSOCIATED WITH Retinal Cone Dystrophy 1 (inferred) 7240710 5953 HGNC:9930 180020 5135113 RCC2P7 regulator of chromosome condensation 2 pseudogene 7 6 6 6 p12.1 57958900 57960399 - 56296728 56298227 - 56431930 56433429 - 442221 ABBA01050498;AL137008;AMYH02013779;NG_022301 pseudo HGNC:42383 INFERRED 5135104 RCC2P3 regulator of chromosome condensation 2 pseudogene 3 7 7 7 q33 132545739 132547793 + 137806949 137809003 + 138122203 138124257 + 100131932 ABBA01001155;AC083867;AMYH02016855;CH236950;NG_022573 pseudo HGNC:42379 INFERRED 1319506 RCE1 Ras converting CAAX endopeptidase 1 This gene encodes an integral membrane protein which is classified as a member of the metalloproteinase family. This enzyme is thought to function in the maintenance and processing of CAAX-type prenylated proteins. [provided by RefSeq, Jul 2008] 11 11 11 q13 63932529 63942408 + 66610883 66614003 + 66843412 66846532 + 1580863;6480464 10085068;10373325;11038283;12477932;12818187;14504265;14625273;15489334;16361710;19188362;19946888;21906983;21926972;21987572;24134311 9986 E9PI08;E9PKA7;E9PPV9;Q0P5W4;Q9Y256 ABBA01024061;AF121951;AL713740;AMYH02024982;AP000485;BC052622;BC093726;BC093728;CH471076;CQ834848;NM_001032279;NM_005133;Y13835 AAD22632;AAH52622;AAH93726;AAH93728;CAB46278;CAH05639;EAW74565;EAW74566;EAW74567;NP_001027450;NP_005124;Q9Y256 Hs.654972 1668178;1682049;1748401;1751473 D19Ertd98e;RH16038;RH98933;SHGC-105288 FACE2;RCE1A;RCE1B CAAX prenyl protease 2;OTTHUMP00000235150;OTTHUMP00000235151;OTTHUMP00000235153;RCE1 homolog, prenyl protein peptidase;RCE1 homolog, prenyl protein protease;farnesylated protein-converting enzyme 2;farnesylated proteins-converting enzyme 2;prenyl protein-specific endoprotease 2;rce1 homolog, prenyl protein protease (s. cerevisiae) APPROVED protein-coding ENSG00000173653 HGNC:13721 07289 605385 REVIEWED 4889296 RCN1P1 reticulocalbin 1, EF-hand calcium binding domain pseudogene 1 6 6 6 q14.3 88250161 88251153 - 87831414 87832406 - 87121696 87122688 - 442234 ABBA01040490;AL139274;AMYH02014053;NG_022315 pseudo HGNC:39205 INFERRED 1313278 RCL1 RNA terminal phosphate cyclase-like 1 ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN ribosome biogenesis (inferred); RNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleolus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; afimoxifene 9 9 9 p24.1-p23 4718433 4786663 + 4792834 4861066 + 4792834 4861077 + 1580863;6480464;6907045;8554872 10790377;11042152;11790298;12477932;14702039;15164053;15489334;15635413;16344560;19862010;20139978;20379614;21139048;21906983;21907836;21963094;22139419;22586326;23222517;23263863;24026423;24163370;24457600;25027693;3416880;8125298;9184239 10171 Q5VYW8;Q5VZU2;Q5VZU3;Q9Y2P8 ABBA01065419;AF067172;AF161456;AI688431;AJ276894;AK022904;AK225872;AL158147;AL353151;AL518076;AL560629;AMYH02019078;AMYH02019079;AMYH02019080;BC001025;BI859171;CA422524;CH471071;DB024289;DB448951;EF553527;NM_001286699;NM_001286700;NM_001286701;NM_005772;XM_006716715 AAD32456;AAF29016;AAH01025;ABQ66271;ACE86480;ACE87161;ADZ15748;BAB14300;CAB89811;EAW58776;EAW58777;NP_001273628;NP_001273629;NP_001273630;NP_005763;Q9Y2P8;XP_006716778 Hs.194121 1336440;1648022;1676528;1689444;1787040;1798088;1853984;5092666 A005O19;D9S1810;D9S2081;G32250;RH80665;RH93863;RNAC_2461;SHGC-153573 RNAC;RPCL1 2310040A02Rik;OTTHUMP00000021017;RNA 3'-terminal phosphate cyclase-like protein;RNA cyclase homolog protein-coding ENSG00000120158 HGNC:17687 10189 611405 VALIDATED 4889248 RCN1P2 reticulocalbin 1, EF-hand calcium binding domain pseudogene 2 13 13 13 q14.13 27018142 27020273 - 45963429 45965561 - 45389294 45391426 - 728913 ABBA01021207;AL627107;AMYH02027970;NG_006546 1653223;1688486;2107595;2130698;2132169;2137933 RH69418;RH79191;SGC33196;SLC25A30__6847;STS-R87642;STS-W02829 pseudo HGNC:39204 INFERRED 5135109 RCC2P8 regulator of chromosome condensation 2 pseudogene 8 4 4 4 q25 107004650 107005686 - 109709904 109710940 - 108788748 108789784 - 100129714 ABBA01063768;AC097473;AMYH02009887;NG_022024 pseudo HGNC:42384 INFERRED 735251 RBP4 retinol binding protein 4, plasma This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008] 10 10 10 q23.33 89092718 89102118 - 95351593 95361101 - 93591836 93601344 - 1601615;1601613;1580863;2311651;2302016;6480464;6484671;6484672;7240710;8699517;8554872 17174134;18401839;19506831;21621639;21782034;9888420 10052934;10232633;10944490;11058747;11853533;12228058;12237133;12477932;12593674;12716133;14718574;15009723;15164054;15489334;15649951;16034410;16156801;1623143;16385451;17003346;17006670;17065684;17164313;17259477;17299074;17337499;17405846;17456573;17526940;17550959;17568782;17575262;17595259;17618858;17630267;17639305;17661007;17686833;17728376;17890490;17904683;17957146;18029348;18052678;18081728;18199128;18239568;18316031;18381580;18390799;18397979;18426814;18426837;18426863;18437353;18445670;18466349;18492757;18493106;18496666;18506842;18588869;18624398;18641048;18710473;18719670;18752671;18782570;18783798;18796616;18838136;18852328;18854400;18937078;18973209;18977339;18980783;19003725;19021760;19023195;19046959;19053019;19056867;19088257;19114616;19122345;19147488;19155083;19158194;19169049;19190263;19195734;19217438;19224430;19287041;19288010;19303000;19339013;19346786;19369430;19403191;19501859;19501863;19525859;19537932;19556974;19573524;19589139;19671994;19708829;19709697;19765959;19766271;19794289;19820404;19851303;19857477;19875582;19893506;19897788;19900011;19949653;20058618;20097162;20146659;20224248;20233518;20376890;20389103;20436266;20503483;20530491;20610143;20625434;20646597;20798476;20819415;20849357;20929509;20932285;20950077;21039728;21085476;21104585;21106915;21164503;21173508;21176857;21223811;21299359;21383997;21406189;21458418;21600576;21609194;21617096;21645024;21655067;21741059;21817822;21821833;21835764;21878437;21886308;21939650;22020625;22023042;22068556;22086013;22151390;2217163;22205567;22253430;22308028;22308842;22397743;22426023;22491740;22685600;22785609;22800884;22826435;22855337;22863748;22878527;22971483;23020231;23071093;23073835;23074124;23087360;23105095;23119072;23129325;23145084;23153527;23189188;23242471;23350588;23418565;23420326;23460908;23480783;23571154;23584360;23708710;23734806;23764679;23799122;24011638;24044566;24160775;24397358;2444024;24647386;24784414;24816145;2928844;2998779;3013795;3525470;3559267;5132677;571335;573217;574085;6316270;6540172;6942701;7666002;8089102;986177 5950 P02753;Q5VY30 ABBA01021866;AF025334;AF025335;AL356214;AMYH02023559;BC020633;BX495987;CH471066;NG_009104;NM_006744;X00129;X02775;X02824;XM_005270023 AAC02945;AAC02946;AAH20633;ABM82307;ABM85484;CAA24959;CAA26553;CAB46489;EAW50065;EAW50066;EAW50067;EAW50068;NP_006735;P02753;XP_005270080 Hs.50223 1680853;1681277;1781940;1847458;2180469;2191505 D10S2145;MARC_24240-24241:1032810986:5;RH80160;RH93967;SHGC-132033;SHGC-170 PRBP;RBP;RDCCAS OTTHUMP00000020114;OTTHUMP00000020115;OTTHUMP00000020116;plasma retinol-binding protein;retinol binding protein 4;retinol-binding protein 4;retinol-binding protein 4, interstitial APPROVED protein-coding ENSG00000138207 HGNC:9922 01580 180250;615147 REVIEWED 733014 RCN2 reticulocalbin 2, EF-hand calcium binding domain The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012] 15 15 15 q23 54155320 54173958 + 77223962 77242601 + 76931621 76950260 + 1580863;6480464 10748068;12477932;12938929;15342556;15489334;16169070;17110338;17207965;17725712;18435749;18457437;19927312;20360068;20462248;20562859;20682791;21044367;21139048;21145461;21565611;21642987;21890473;21900206;21906983;21988832;22190034;22863883;22939629;23254330;23398456;23438482;23443559;23464991;23752268;23956138;24244333;24255178;24337577;24816145;25036637;7624774;8034671;9261167;9533013 5955 A8MXP8;H0YL43;Q14257 ABBA01060556;ABBA01060557;AC051643;AK313833;AL110102;AMYH02030841;AV711990;BC004892;BP275421;BT009790;CH471136;DB452318;NM_001271837;NM_002902;X78669;X78670 AAH04892;AAP88792;ADQ32695;BAG36566;CAA55343;EAW99216;NP_001258766;NP_002893;Q14257 Hs.79088 2118905;2121853 D15S1177;RH17429 E6BP;ERC-55;ERC55;TCBP49 E6-binding protein;OTTHUMP00000184901;OTTHUMP00000184902;OTTHUMP00000184903;calcium-binding protein ERC-55;reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD);reticulocalbin-2 APPROVED protein-coding HGNC:9935 03993 602584 REVIEWED 1346169 RCN3 reticulocalbin 3, EF-hand calcium binding domain ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN endoplasmic reticulum (inferred); INTERACTS WITH amiodarone; atrazine; tert-butyl hydroperoxide 19 19 19 q13.33 46900209 46916223 + 50030875 50046891 + 49527618 49543634 + 1580863;6480464 10931946;12477932;12975309;15489334;16189514;16433634;20139978;21139048;21988832;23000965 57333 M0QYB8;M0QZH0;M0QZU3;Q96D15 ABBA01032920;ABBA01032921;AC010619;AF183423;AMYH02036321;AY195859;AY358423;BC013436;NM_020650;XM_005259089 AAG09692;AAH13436;AAO43054;AAQ88789;NP_065701;Q96D15;XP_005259146 Hs.567550 1854613;2110403;2154554;5015522 FCGRT_2894;RH78760;SHGC-12954;STS-W95460 RLP49 EF-hand calcium-binding protein RLP49;reticulocabin;reticulocalbin-3;reticulocalbin-like protein-coding ENSG00000142552 HGNC:21145 17962 PROVISIONAL 1353932 RCOR2 REST corepressor 2 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN negative regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN chromatin (inferred); nucleus (inferred); transcription factor complex (inferred); INTERACTS WITH atrazine; diazinon; paracetamol 11 11 11 q13.1 61004887 61010510 - 63678693 63684407 - 63911221 63916935 - 737633;1580863;6480464;8554872 12477932 15489334;16169070;19394292;21258344;21433225;21697133;21876670;23752268;8889548 283248 Q8IZ40 AB593132;ABBA01003275;AMYH02024922;AP003780;BC010608;BC023587;BM678625;CH471076;NM_173587;XM_005273932 AAH10608;AAH23587;BAJ84072;EAW74181;EAW74182;NP_775858;Q8IZ40;XP_005273989 Hs.98788 OTTHUMP00000197435 protein-coding ENSG00000167771 HGNC:27455 15234 616019 VALIDATED 1348795 RD Radin blood group 5958 HGNC:9938 111620;111750 734065 RCVRN recoverin This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 9832341 9839998 - 9801027 9808684 - 9897710 9905367 - 1580863;6480464;6893539;6907045;7204681;8699517 20668007;22074925 12477932;12507501;12549820;12596918;12789533;1387789;1388144;1467959;15489334;16713569;1672047;17286855;17374419;18266817;1999465;20812967;21344177;21697133;21988832;7745609;7906682;8422501;8500558;8598320;8912538;9753452 5957 P35243 AB001838;AB593156;ABBA01054966;AC026591;AK314129;AMYH02032955;BC001720;BT009838;CH471108;DQ980606;NM_002903;S43855;S45545;S62028 AAB23163;AAB23392;AAB26894;AAH01720;AAP88840;ABM83748;ABM87067;BAA19460;BAG36819;BAJ84088;EAW90014;NP_002894;P35243 Hs.80539 1655701;1742477;1743151;2108417;2126587;2151799;2190833;5094925 D17S2012;G15951;GDB:197516;GDB:277109;RCV1;RCV1_8588;RCVRN;STS-S43855 RCV1 OTTHUMP00000160768;cancer associated retinopathy antigen;cancer-associated retinopathy protein APPROVED protein-coding HGNC:9937 01558 179618 REVIEWED 1603852 RD3 retinal degeneration 3 This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 1 1 1 q32.3 184876748 184893143 - 211649864 211666259 - 211476522 211492917 - 7240710;8554872;8699517 12477932;12914764;15489334;17186464;18936139;20301475;21832049;21928830;22531706;23308101;23393555 343035 Q7Z3Z2 ABBA01048190;AC105275;AK291210;AMYH02002624;AY191519;BC035651;BC065541;BX647803;CH471100;NG_013042;NM_001164688;NM_183059 AAH65541;AAP12678;BAF83899;EAW93414;NP_001158160;NP_898882;Q7Z3Z2 Hs.632495 2176874 WI-18112 C1orf36;LCA12 OTTHUMP00000035058;retinal degeneration protein 3 APPROVED protein-coding ENSG00000198570 HGNC:19689 12726 180040;610612 REVIEWED 5683670 RD3L retinal degeneration 3-like 14 14 14 q32.33 84461006 84462890 - 104406763 104408645 - 103940426 103942308 - 8889548 647286 P0DJH9 ABBA01048396;AL136001;AMYH02029935;BQ184214;BQ185906;BX117646;NM_001257268 NP_001244197;P0DJH9 Hs.632325 TDRD9-AS1;TDRD9AS1 TDRD9 antisense 1;TDRD9 antisense RNA 1 (non-protein coding);protein RD3-like;retinal degeneration protein 3-like;uncharacterized protein LOC647286 APPROVED protein-coding ENSG00000227729 HGNC:40912 VALIDATED 1603598 RCSD1 RCSD domain containing 1 ENCODES a protein that exhibits actin filament binding; INVOLVED IN cellular hyperosmotic response; skeletal muscle contraction (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN actin filament (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; methyl methanesulfonate 1 1 1 q24.2 140708754 140784746 + 167599474 167677933 + 167630237 167708692 + 6480464;8554872 12477932;15850461;17541395;19064610;19536175;24816145 92241 B7ZKW8;F6T4W9;Q6JBY9 ABBA01047242;AF545852;AK025425;AL031733;AL137762;AL356532;AL833211;AMYH02002093;AY530954;BC013186;BC072399;BC098426;BC101536;BC101562;BC143428;CH471067;DR006615;KF455052;NM_052862;XM_005245605 AAH13186;AAH72399;AAH98426;AAI01537;AAI01563;AAI43429;AAN52359;AAS99235;CAB70910;EAW90796;EAW90797;EAW90798;EAW90799;NP_443094;Q6JBY9;XP_005245662 Hs.493867 1338728;1683393;1768772;2112534;2118721;2187609;7187548 D1S196;D1S3505;D1S3678;RH36349;RH69706;RH80616 MGC126585;MGC126611;MGC21854;MK2S4;RP3-503M14.1 CAPZIP;OTTHUMP00000033255;OTTHUMP00000033256;RCSD domain-containing protein 1;capZ-interacting protein;protein kinase substrate CapZIP;protein kinase substrate MK2S4 protein-coding ENSG00000198771 HGNC:28310 10077 610579 VALIDATED 1351497 RDH10 retinol dehydrogenase 10 (all-trans) This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011] 8 8 8 q21.11 70204803 70235112 + 74206837 74237520 + 73294602 73325285 + 1302393;1580863;6480464;6893650;6771354;6484672;6907045 12407145;21138835;21447403;21621639 12477932;12975309;14596915;17218779;18502750;19027726;19102727;19322201;19458327;19473719;21345790;21890473;21906983;22053931;22412388;23000965;23833249;8889548 157506 E5RHJ9;E5RK48;Q8IZV5 ABBA01041964;ABBA01041965;AC111149;AF456765;AMYH02018209;AY358270;BC067131;BM472905;BM804062;BM979260;CD110145;CH471068;HH961816;HI574066;NM_172037 AAH67131;AAN64747;AAQ88637;CBX47522;CBX51381;EAW87001;EAW87002;NP_742034;Q8IZV5 Hs.244940 1668772;1668774;1672827;1684132;1707518;1760231;2148059;5015619;5022578;5109663 D11S3114;D1S1423;D7S2067E;D8S1627;RH16166;RH94261;SHGC-132522;SHGC-32652;SHGC-34375;SHGC-84561 SDR16C4 OTTHUMP00000226821;OTTHUMP00000226823;retinol dehydrogenase 10;short chain dehydrogenase/reductase family 16C, member 4 APPROVED protein-coding ENSG00000121039 HGNC:19975 07605 607599 REVIEWED 1323753 RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011] 14 14 14 q24.1 48202560 48221552 - 68143517 68162510 - 67676800 67695793 - 1580863;6480464;6893650;6907045;8554872 21447403 10810093;11245473;12036956;12226107;12477932;12532453;12807874;14674758;14702039;15489334;15583024;16009940;16303743;17207965;17249616;17286855;18295589;18781797;19027726;21139048;21890473;21900206;21906983;21963094;21987572;22053931;22505724;23000965;23874603;24816145;25027693;8018917 51109 G3V234;G3V2G6;G3V3K0;G3V510;H0YJ46;Q8TC12 AB209223;ABBA01023707;AF151840;AF167438;AF395068;AI382141;AK057195;AK074749;AK289427;AK293355;AK307500;AK314465;AL049779;AMYH02029403;BC000112;BC011727;BC026274;BC037302;BC051291;CH471061;CQ783647;CR457180;DC355364;DQ426886;NM_001252650;NM_016026 AAD34077;AAF89632;AAH00112;AAH11727;AAH26274;AAH37302;AAH51291;AAK72049;ABD90542;ADQ31650;BAD92460;BAF82116;BAG37073;BAG51881;BAG51997;BAG56871;CAF86792;CAG33461;EAW80948;EAW80949;EAW80950;NP_001239579;NP_057110;Q8TC12 Hs.719925 1659022;1698954;1725719;1767537;2122477;2152353;2153455 G35424;G35621;G36036;G62055;IB526;RH103046;RH68773 ARSDR1;CGI-82;CGI82;FLJ32633;HCBP12;MDT1;PSDR1;RALR1;SCALD;SDR7C1 HCV core-binding protein HCBP12;OTTHUMP00000245403;OTTHUMP00000245404;OTTHUMP00000245405;OTTHUMP00000245538;androgen-regulated short-chain dehydrogenase/reductase 1;prostate short-chain dehydrogenase reductase 1;prostate short-chain dehydrogenase/reductase 1;retinal reductase 1;retinol dehydrogenase 11;retinol dehydrogenase 11 (all-trans and 9-cis);short chain dehydrogenase/reductase family 7C, member 1 APPROVED protein-coding ENSG00000072042 HGNC:17964 09707 607849 REVIEWED 1353437 RCHY1 ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013] 4 4 4 q21.1 73700478 73735762 - 76404247 76439884 - 75479037 75514674 - 1580863;2316155;6480464;6484113;6907045 19450511 12200228;12477932;12654245;14701804;14702039;15280670;15342556;15547185;15781263;16344560;16461635;16713569;16914734;16934800;17207965;17568776;17721809;17950244;18006823;18029348;18263878;18344599;19043414;19282868;19445020;19483087;19549727;19551892;19608861;19895323;19945467;20008555;20333547;20452352;20598683;21084285;21236467;21622095;21791603;21852228;21963094;21988832;21994467;22125490;22491018;22493164;22570270;22766706;23235527;23449389;23603988;24244684;24367557;24457600;24722188;8889548 25898 D6RAF6;H0YAI4;Q96PM5 AB209072;ABBA01063343;AC096759;AF247041;AF255666;AF305424;AK091501;AK308754;AK308848;AK309555;AL050144;AMYH02009489;AMYH02009490;AW236209;AY888047;BC015464;BC031057;BC047393;BF102905;BG703058;BI913695;BP314571;BQ024871;BQ959587;CB241669;CF597260;CH471057;DA197338;DB044826;DN919417;GQ250944;GQ250945;GQ250946;GU937000;JF691538;JF691539;NG_029152;NM_001009922;NM_001278536;NM_001278537;NM_001278538;NM_001278539;NM_015436;NR_037913;NR_037914;NR_103723;NR_103724;NR_103725;XM_006714174 AAH15464;AAH47393;AAK96896;AAL09356;AAL76101;AAX78233;ACT35531;ACT35532;ACT35533;ACT64476;ACT64477;ADD21555;ADQ32462;AEO00252;AEO00253;BAD92309;BAG52375;CAB43290;EAX05724;EAX05725;EAX05726;EAX05727;EAX05728;NP_001009922;NP_001265465;NP_001265466;NP_001265467;NP_001265468;NP_056251;Q96PM5;XP_006714237 Hs.48297 1680202;2142736;5014063 D15S1390;RH91327;SHGC-64844 CHIMP;DKFZp586C1620;PIRH2;PIRH2E;PIRH2F;PRO1996;RNF199;ZCHY;ZNF363;hPirh2 ARNIP;CH-rich interacting match with PLAG1;CH-rich-interacting match with PLAG1;E3 ubiquitin-protein ligase Pirh2;OTTHUMP00000160598;OTTHUMP00000218849;OTTHUMP00000218850;OTTHUMP00000218851;OTTHUMP00000218853;OTTHUMP00000218854;RING finger and CHY zinc finger domain-containing protein 1;RING finger protein 199;androgen receptor N-terminal-interacting protein;androgen-receptor N-terminal-interacting protein;hARNIP;p53-induced RING-H2 protein;p53-induced protein with a RING-H2 domain;zinc finger protein 363;zinc finger, CHY-type APPROVED protein-coding ENSG00000163743 HGNC:17479 07607 607680 REVIEWED 1321376 RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). [provided by RefSeq, Jul 2008] 14 14 14 q24.1 48227645 48260203 + 68168603 68201168 + 67701886 67734451 + 1599415;6480464;6893650;6907045;7240710;8547535;8547536;8554872;8699517 15322982;20212494;21447403;23701314 12226107;12477932;14702039;15258582;15489334;15865448;17197551;17207965;17389517;17512723;17512964;18779497;19011012;19027726;19686838;19753312;20006610;20301475;20301590;20591486;20736127;20801516;21890473;21906983;21987572;21988832;22053931;22065924;22505724;23000965;23900199;24752437;24816145;9799089 145226 Q96NR8 ABBA01023706;ABBA01023707;AK054835;AK315462;AL049779;AMYH02029404;BC025724;CH471061;NG_008321;NM_152443 AAH25724;ADQ33178;BAB70811;BAG37849;EAW80951;NP_689656;Q96NR8 Hs.415322 2129513;2165075;2176170 G36282;G36307;WI-15520 FLJ30273;LCA13;LCA3;RP53;SDR7C2 OTTHUMP00000242640;all-trans and 9-cis retinol dehydrogenase;retinol dehydrogenase 12;retinol dehydrogenase 12 (all-trans and 9-cis);retinol dehydrogenase 12, all-trans and 9-cis;short chain dehydrogenase/reductase family 7C, member 2 APPROVED protein-coding ENSG00000139988 HGNC:19977 10585 608830;612712 REVIEWED 1350848 RCOR3 REST corepressor 3 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH coumestrol; crotonaldehyde; elemental selenium 1 1 1 q32.2 184656707 184716396 + 211432708 211489727 + 211259366 211316385 + 737633;1580863;6480464;8554872 12477932 10718198;14702039;15489334;16189514;16344560;16710414;17081983;18029348;19060904;19322201;19394292;19773279;20360068;21139048;21150319;21258344;21765449;21832049;21890473;21988832;23000965;23455924;23752268 55758 B4DV59;E9PPC5;E9PQE5;E9PR63;H0YDD7;H0YDR8;H0YF22;Q9P2K3 AA831517;AB037764;ABBA01048192;ABBA01048193;ABBA01048194;AK001738;AK057001;AK125810;AK131312;AK300942;AK302664;AK311644;AL590101;AL611964;AMYH02002620;AMYH02002621;AMYH02002622;AMYH02002623;AMYH02002624;BC031608;CH471100;DA478986;DC387352;NM_001136223;NM_001136224;NM_001136225;NM_018254;XM_005273191;XM_005273192;XM_006711442;XM_006711443;XM_006711444;XR_426789 AAH31608;BAA91872;BAA92581;BAG54764;BAG62571;BAG63899;EAW93423;NP_001129695;NP_001129696;NP_001129697;NP_060724;Q9P2K3;XP_005273248;XP_005273249;XP_006711505;XP_006711506;XP_006711507 Hs.356399 1667932;1699780;1778546;2111186;2121291;2131936;2132680;2183893 AL009661;AL009693;D1S3586;D1S527E;RH103497;SHGC-53772;SHGC-76308;SHGC-76311 FLJ10876;FLJ16298;RP11-318L16.1 OTTHUMP00000035053;OTTHUMP00000035054;OTTHUMP00000228430;OTTHUMP00000228431;OTTHUMP00000228432 protein-coding ENSG00000117625 HGNC:25594 08338 VALIDATED 1312701 RDH13 retinol dehydrogenase 13 (all-trans/9-cis) This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 19 19 19 q13.42 52595491 52620880 - 55555684 55580914 - 55044316 55069546 - 1580863;6480464;8554872 12226107;12477932;12975309;14702039;15489334;16303743;16344560;18039331;19027726;20877624;21890473;21900206;21906983;21963094;21988832;22114354;23443559;24654937 112724 B3KVA3;G8JLA1;K7EMY5;K7EQB5;K7ERV1;Q8NBN7 ABBA01068129;ABBA01068130;ABBA01068131;AC011476;AK075392;AK096798;AK122764;AK291579;AK310288;AK315539;AL833150;AMYH02036450;AMYH02036451;AY358473;BC009881;BC069002;CH471135;DB218166;DB273341;DN996530;NM_001145971;NM_138412;NR_027381;NR_027382;XM_005258473;XM_005277093;XM_005277199;XM_005277238;XM_005277295;XM_006725861;XM_006725949;XM_006726048;XM_006726146;XM_006726184 AAH09881;AAQ88837;BAC11591;BAF84268;BAG37918;BAG53715;EAW72321;EAW72322;EAW72323;NP_001139443;NP_612421;Q8NBN7;XP_005258530;XP_005277150;XP_005277256;XP_005277295;XP_005277352;XP_006725924;XP_006726012;XP_006726111;XP_006726209;XP_006726247 Hs.327631;Hs.731615 1663741;1721463;2121543;2156992;5016596;5020242;5020881;5037552;5093120 A009G28;D11S2612;D19S1109;D8S2279;G32531;G59585;GDB:631802;L17709;WIAF-2101 DKFZp313H0740;FLJ39479;SDR7C3 retinol dehydrogenase 13;retinol dehydrogenase 13 (all-trans and 9-cis);short chain dehydrogenase/reductase family 7C, member 3 APPROVED protein-coding ENSG00000160439 HGNC:19978 17963 REVIEWED 1321329 RDM1 RAD52 motif containing 1 This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 31154640 31167336 - 34245084 34257780 - 35918080 35930776 - 1580863;6480464 12477932;12750383;15611051;17905820;18029348;21906983;24250222 201299 B4DZ74;Q8NG50 AA761980;AB080728;ABBA01011241;ABBA01011242;AC004675;AC015849;AC244100;AK302782;AW138754;BC032114;BC038301;BC127190;BM559857;BU599050;BX376188;CH471147;EF488473;EF488474;EF488475;EF488476;EF488477;EF488478;EF488479;EF488480;EF488481;EF488482;NM_001034836;NM_001163120;NM_001163121;NM_001163122;NM_001163124;NM_001163125;NM_001163130;NM_145654;NR_027996;NR_027997;NR_027998;NR_027999;NR_028000 AAI27191;ABS86950;ABS86951;ABS86952;ABS86953;ABS86954;ABS86955;ABS86956;ABS86957;ABS86958;ABS86959;ABW03899;BAC02562;BAG63986;EAW80116;EAW80117;EAW80118;NP_001030008;NP_001156592;NP_001156593;NP_001156594;NP_001156596;NP_001156597;NP_001156602;NP_663629;Q8NG50 Hs.194411 2109729 RAD52B_8155 MGC33977;RAD52B OTTHUMP00000163946;OTTHUMP00000163959;OTTHUMP00000163960;OTTHUMP00000163961;OTTHUMP00000163962;RAD52 homolog B;RAD52 motif 1;RAD52 motif-containing protein 1 APPROVED protein-coding ENSG00000278023 HGNC:19950 15205 612896 REVIEWED 1313957 RCOR1 REST corepressor 1 This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011] 14 14 14 q32.31 83113452 83251043 + 103058996 103196913 + 102592659 102730576 + 1580863;6480464;6907045 10449787;10734093;11076863;11102443;11171972;11516394;11602581;12032298;12192000;12399542;12477932;12493763;12700765;15325272;15489334;15897453;16079794;16140033;16565220;16885027;16956976;17081983;17130829;17537733;17546044;17555596;17620012;17707228;17938259;17967884;18075316;18391013;18501190;18625718;18657505;18806873;18854179;18945770;19242095;19394292;19471022;19497860;19522008;19703393;19754958;20080105;20106915;20133760;20164337;20331966;20360068;20389281;20547759;20562920;20973059;21139048;21142040;21221247;21258344;21300290;21602794;21670149;21693764;21876670;21890473;21906983;22139419;22143567;22354994;22399799;22802671;22990118;23000965;23349832;23402259;23752268;23800350;24217620;24816145;7584044;8619474;9110174 23186 H0YNY4;J3KN32;Q9UKL0 ABBA01048457;ABBA01048458;ABBA01048459;ABBA01048460;ABBA01048461;ABBA01048462;ABBA01048463;AF070627;AF155595;AI337324;AK026612;AL132801;AL136293;AMYH02029903;AMYH02029904;BC051003;BC064495;CH471061;D31888;DB455887;NM_015156;XM_005267453 AAF01498;AAH51003;AAH64495;AAI11591;BAA06686;EAW81793;EAW81794;NP_055971;Q9UKL0;XP_005267510 Hs.510521 1334623;1646831;1659459;1686524;1718883;1725757;1728961;1770564;1853412;1856146;2133712;2151239;2163040 D12Wsu95e;D14S1199;D14S1249;D14S1343;D14S557;D14S577;G15972;G35674;G35981;G62068;RH123147;RH25301;RH68264 KIAA0071;RCOR COREST;OTTHUMP00000246830 APPROVED protein-coding ENSG00000089902 HGNC:17441 09645 607675 REVIEWED 1322672 RCN1 reticulocalbin 1, EF-hand calcium binding domain Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009] 11 11 11 p13 32259538 32274336 + 32112477 32127272 + 32090931 32105726 + 1580863;6480464 12477932;12938929;14702039;15342556;15489334;16554811;16713569;17110338;18029348;18457437;18561328;18688696;19474196;19710015;20360068;20724591;21139048;21145461;21150319;21272564;21890473;21988832;22190034;22863883;22939629;23319000;23438482;23443559;23602568;23752268;24457600;24654937;24816145;25036637;8416973;8586628;9192846 5954 E9PLM2;E9PP27;H0YDA4;H0YER5;Q15293;V9HW95 ABBA01060915;AK094360;AK126419;AK129791;AL078612;AMYH02024550;AY423728;BC010120;BG109024;BP253627;CA449220;CH471064;D42073;FJ224346;KF455355;NM_002901 AAH10120;AAS00491;ABM83854;ABM87176;ACI46038;BAA07670;EAW68227;EAW68228;NP_002892;Q15293 Hs.97887 1676642;1688486;1734026;2130698;2160010;5125805 D11S2163;RH64956;RH69418;RH98584;SGC33196;STS-L37776 FLJ37041;FLJ55835;HEL-S-84;PIG20;RCAL;RCN OTTHUMP00000232226;OTTHUMP00000232227;epididymis secretory protein Li 84;proliferation-inducing gene 20;reticulocalbin-1 APPROVED protein-coding ENSG00000049449 HGNC:9934 04111 602735 REVIEWED 1320191 RDH14 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN osteoblast differentiation; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; lysosomal membrane; membrane; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; formaldehyde 2 2 2 p24.2 18617249 18623222 - 18735989 18741959 - 18554723 18560693 - 1580863;6480464;8554872 11076863;11256614;12226107;12435598;12477932;12766061;12975309;14702039;15489334;15489336;16210410;16381901;17362836;17897319;19027726;20877624;21139048;23000965;24816145 57665 Q53RX3;Q9HBH5 ABBA01018502;AC079148;AF237952;AK023625;AK314994;AMYH02003352;AY358511;BC009830;BI546337;CD676669;CH471053;NM_020905 AAG12190;AAH09830;AAQ88875;AAX93259;BAG37490;CAL38103;EAX00855;EAX00856;EAX00857;EAX00858;NP_065956;Q9HBH5 Hs.120319 1698672;2219618 RDH14__5475;RH102895 PAN2;SDR7C4 OTTHUMP00000115875;alcohol dehydrogenase PAN2;pancreas protein 2;retinol dehydrogenase 14;retinol dehydrogenase 14 (all-trans and 9-cis);short chain dehydrogenase/reductase family 7C, member 4 protein-coding ENSG00000240857 HGNC:19979 10190 VALIDATED 1344187 RDXP2 radixin pseudogene 2 X X X p22 31661849 31664559 - 27533288 27536000 - 27515171 27517883 - 8486357 5964 ABBA01072652;ABBA01072653;AC006210;AMYH02039076;NG_000867 1681957;1775607;2126015;5017615 RDX;RH115;RH27285;RH79199 pseudo HGNC:9946 INFERRED 1319361 RDH8 retinol dehydrogenase 8 (all-trans) This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014] 19 19 19 p13.2 10019397 10028442 + 10123925 10132954 + 10013249 10022278 + 1580863;6480464;6893650;6907045 21447403 10753906;11710234;12226107;14702039;15028754;15322982;15755727;19027726;21043051;22220722;9667000 50700 K7EKT5;K7ELF7;Q9NYR8 ABBA01029955;ABBA01029956;AC008742;AF229845;AK024022;AMYH02035482;CH471106;NG_033979;NM_015725 AAF63160;AAI40329;AAI46480;BAB14782;EAW84062;NP_056540;Q9NYR8 Hs.675522 PRRDH;SDR28C2 photoreceptor outer segment all-trans retinol dehydrogenase;retinol dehydrogenase 8;short chain dehydrogenase/reductase family 28C, member 2 APPROVED protein-coding ENSG00000080511 HGNC:14423 16350 608575 REVIEWED 2307386 REC114 REC114 meiotic recombination protein INVOLVED IN DNA recombination (inferred); meiotic cell cycle (inferred); INTERACTS WITH 6-propyl-2-thiouracil (ortholog); methimazole (ortholog); phenethyl isothiocyanate (ortholog) 15 15 15 q22 50614105 50730994 + 73735499 73852354 + 73443158 73560817 + 6480464 12477932;14702039;20551173;23382691 283677 H0YKR2;Q7Z4M0 ABBA01038709;ABBA01038710;ABBA01038711;AC009660;AC022735;AK131030;AMYH02030773;BC055412;BX113903;CH471082;DB465854;NM_001042367;XM_006720474 AAH55412;EAW77929;NP_001035826;Q7Z4M0;XP_006720537 Hs.743574 2121709;2176182 D15S1086;WI-14402 C15orf60;CT147;FLJ27520;FLJ36860;FLJ44083 hypothetical protein LOC283677;meiotic recombination protein REC114;meiotic recombination protein REC114-like;uncharacterized protein C15orf60 APPROVED protein-coding ENSG00000183324 HGNC:25065 PROVISIONAL 1351817 RDXP1 radixin pseudogene 1 11 11 11 p15.4 4236130 4237871 - 4231520 4233520 - 4210290 4212290 - 8486357 5963;643244 ABBA01032034;AC015689;AMYH02024237;NG_021769 pseudo HGNC:9945 INFERRED 1322333 RECQL RecQ helicase-like The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. [provided by RefSeq, Jul 2008] 12 12 12 p12 26777229 26809985 - 21621844 21654603 - 21468910 21501669 - 1580863;2317369;2317365;2317370;6480464 16540687;18422747;19768149 11562355;11799066;12419324;12419808;12477932;15096578;15146197;15489334;15886194;15899892;16260474;16344560;16520463;17227144;17483412;17953710;18029348;18074021;18448429;18495662;19147782;19151156;19177149;19494003;19536092;19759913;19946888;20065033;20198302;20644561;21059676;21139048;21252943;21752281;21890473;21963094;22053931;22174317;22190034;22356911;22542292;22586326;22705827;22797925;22863883;23000965;23095637;23396353;23601052;23650516;23951333;24147044;24623817;24816145;24895130;25015289;25027693;7527136;7607686;7961977;8056767;8889549;9168958 5965 F5GYB7;F5H2L2;F5H3W0;F5H4P4;F8WA66;F8WD97;P46063 ABBA01067969;AC006559;AK291627;AMYH02026167;AMYH02026168;AV718094;AY157499;BC001052;BE794392;BT007119;CA431135;CH471094;CN414472;CX784110;D37984;DA028052;DA547846;L36140;NM_002907;NM_032941;T94514;XM_005253461;XM_005253462;XM_005253463;XM_005253464;XM_006719133 AAA60261;AAH01052;AAO61939;AAP35783;BAA07200;BAF84316;EAW96434;EAW96435;EAW96436;EAW96437;EAW96438;NP_002898;NP_116559;P46063;XP_005253518;XP_005253519;XP_005253520;XP_005253521;XP_006719196 Hs.235069 1679958;1687750;1688036;1688182;1688831;1690712;1698616;1725595;1744925;2187302 G62019;GDB:581119;RH102863;RH39709;RH39888;RH65497;RH68343;RH79569;RH80431;RH93629 RECQL1;RecQ1 ATP-dependent DNA helicase Q1;DNA helicase Q1-like;DNA helicase, RecQ-like type 1;DNA-dependent ATPase Q1;OTTHUMP00000240142;OTTHUMP00000240143;RecQ protein-like (DNA helicase Q1-like);recQ protein-like 1 APPROVED protein-coding ENSG00000004700 HGNC:9948 02762 600537 REVIEWED 1319692 REC8 REC8 meiotic recombination protein This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q11.2-q12 4505702 4513934 + 24641062 24649735 + 24172025 24180257 + 1580863;6480464 10207075;12477932;12667442;12759374;14702039;15125634;15489334;15935783;16344560;18570052;19463812;20378615 9985 H0YM87;H0YMV7;O95072 AA496891;ABBA01061336;AF006264;AK001435;AK291191;AL136295;AL832973;AMYH02028880;BC004159;BC010887;BC019326;CH471078;CR457263;DB294585;KF573681;NM_001048205;NM_005132 AAD01193;AAH04159;AAH10887;AAH19326;BAA91690;BAF83880;CAG33544;CAH56339;EAW66089;EAW66090;EAW66091;NP_001041670;NP_005123;O95072 Hs.419259 1778766;1849770;2117292;2117469;2137425;2178311;5017367 A001X04;A002A41;D14S689E;G36122;HSC0XG082;RH44766;RH78264 HR21spB;MGC950;REC8L1;Rec8p REC8 homolog;REC8-like 1;cohesin Rec8p;cohesion rec8p;human homolog of rad21, S. pombe;kleisin-alpha;meiotic recombination and sister chromatid cohesion phosphoprotein of the rad21p family;meiotic recombination protein REC8 homolog;meiotic recombination protein REC8-like 1;rec8-like 1 (yeast);recombination and sister chromatid cohesion protein homolog APPROVED protein-coding ENSG00000100918 HGNC:16879 09739 608193 REVIEWED 1318857 RDH5 retinol dehydrogenase 5 (11-cis/9-cis) This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010] 12 12 12 q13-q14 55766620 55770996 + 56114151 56118526 + 55720367 55724742 + 1599416;1580863;6480464;6893650;6907045;7240710;8699517 10617778;21447403 10369264;11053295;11078852;11274198;11470705;11675386;11812441;12226107;12477932;12536149;12732844;12788147;12860821;12906118;12967826;14702039;15007239;15302662;15342556;15489334;15790919;16637847;17207965;17286855;17476461;18363170;18949499;19027726;19322201;19460752;20382160;20618457;20801113;20801516;20829743;21529959;22669287;22736946;22815624;23396134;24246574;7836368;8884265;8889548;9115228;9931293 5959 F8VUB9;F8VVC7;H0YHP7;Q92781 ABBA01008384;AC009779;AF037062;AK293313;AK307157;AMYH02026548;BC028298;BI765016;BP381700;BU617433;BU731044;CH471054;DQ426887;NG_008606;NM_001199771;NM_002905;U43559;U89717 AAB93668;AAC09250;AAC50725;AAH28298;ADQ31868;BAG56833;EAW96825;EAW96826;NP_001186700;NP_002896;Q92781 Hs.600940 1794934;2115768;2141427;2152841;2160251;2219620;5022651;5037552;5094008;5109663;5118444 A010A32;D11S2921;D11S3316;D7S2067E;D8S2279;G33052;PMC85795P2;RDH5__5476;RH17484;RH41921;SGC34432 9cRDH;FLJ39337;FLJ97089;HSD17B9;RDH1;SDR9C5 11-cis RDH;11-cis RoDH;11-cis retinol dehydrogenase;9-cis retinol dehydrogenase;9-cis-retinol specific dehydrogenase;OTTHUMP00000242975;OTTHUMP00000242976;OTTHUMP00000242988;retinol dehydrogenase 1;retinol dehydrogenase 5 (11-cis and 9-cis);short chain dehydrogenase/reductase family 9C, member 5 APPROVED protein-coding ENSG00000135437 HGNC:9940 03370 136880;601617 REVIEWED 1317096 RECQL4 RecQ protein-like 4 The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010] 8 8 8 q24.3 141912140 141918890 - 145736667 145743210 - 144511284 144517826 - 1580863;1599421;6480464;7240710;8554872;8699517 10678659 10319867;10552928;10779560;11032027;12016592;12477932;12601557;12673665;12734318;12838562;12952869;133085;15146197;15221963;15317757;15489334;15674334;15960976;15964893;16141230;16169070;16214424;16617241;16678792;16949575;17184169;18270339;18449888;18504617;18616953;18647888;18693251;18716613;19177149;19237606;19242607;19270065;19299466;19451148;19567405;19696745;19805216;19946888;20065033;20222902;20301383;20301415;20360068;20451470;21044950;21045146;21256165;21436139;21906983;22017238;22039056;22296597;22357944;22508716;22544709;22730300;22824301;22885111;22940096;23238538;23382074;23683351;23894508;23899764;24067899;24072219;24518840;24778252;24924172;9878247 9401 O94761;V9GY28;V9GY60;V9GYA3;V9GYB6;V9GZ64 AB006532;AB026546;AB026547;ABBA01005200;AC084125;AMYH02019009;BC011602;BC013277;BC020496;CH471162;CN286057;CN286060;DQ176868;KF495717;KJ147518;NG_016430;NM_004260 AAH11602;AAH13277;AAZ85145;AHN60090;BAA74453;BAA86899;EAW82070;EAW82071;NP_004251;O94761 Hs.31442 1662469;1675644;1790455;1790457;1790459;1790461;1790463;1790699;1790701;1790703 LW11-12;LW21-6;LW29-2;LW5-26;LW61-40;LW_29-4;LW_52-69;LW_9-30;RH65331;WI-15870 RECQ4 ATP-dependent DNA helicase Q4;DNA helicase, RecQ-like type 4;DNA helicase, RecQ-like, type 4 APPROVED protein-coding ENSG00000160957 HGNC:9949 04805 218600;266280;268400;603780 REVIEWED 1604846 RDH16 retinol dehydrogenase 16 (all-trans) ENCODES a protein that exhibits electron carrier activity (inferred); retinol dehydrogenase activity (inferred); INVOLVED IN lipid metabolic process (inferred); oxidation-reduction process (inferred); PARTICIPATES IN retinoic acid metabolic pathway; retinol metabolic pathway; FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); intracellular membrane-bounded organelle (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 12 12 12 q13.3 56999103 57005306 - 57345215 57353158 - 56951431 56959374 - 6480464;6484672;6907045 21621639 10329026;11294878;11967490;12534290;19027726;9677409 8608 O75452;Q59FX7 AB209332;ABBA01008445;AC026120;AF057034;AF086735;AMYH02026577;AW449664;CH471054;DQ499468;NM_003708;XM_005269205 AAC39922;AAC72923;AAI60081;ABF51671;BAD92569;EAW96968;NP_003699;O75452;XP_005269262 Hs.134958 1680401;2118036 RH76014;SHGC-35723 RODH-4;SDR9C8 OTTHUMP00000244666;microsomal NAD(+)-dependent retinol dehydrogenase 4;microsomal NAD+-dependent retinol dehydrogenase 4;retinol dehydrogenase 16;retinol dehydrogenase 16 (all-trans and 13-cis);short chain dehydrogenase/reductase family 9C, member 8;sterol/retinol dehydrogenase protein-coding HGNC:29674 10208 VALIDATED 1318851 RECK reversion-inducing-cysteine-rich protein with kazal motifs The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35970460 36058013 + 36036910 36124452 + 36036913 36124457 + 1580863;6480464;8554872 11747814;12438739;12477932;12738734;12810630;14702039;15164053;15328199;16103099;16377629;16463672;16791855;16951151;17033924;17233834;17262820;17328864;17329256;17443689;17583418;17628776;17714826;18194466;18319621;18425389;18652766;19022775;19197139;19208844;19827606;19913121;19995435;20032402;20127710;20143471;20154725;20379614;20395433;20407016;20480266;20510080;20579139;20628086;20878580;20973064;21076843;21254649;21432940;21468925;21565829;21613799;21949998;22025325;22098593;22139647;22158033;22178867;22183444;22292753;22321642;22338226;22397871;22404079;22419890;22428065;22438955;22630347;22761427;22844865;23176145;23189844;23226455;23333633;23382691;23383207;23504349;23679328;23749490;23820254;23881612;24078004;24131772;24162673;24269686;24335752;24366472;9789069;9789096 8434 A8K9D8;O95980 ABBA01050435;ABBA01050436;ABBA01050437;AK022897;AK292653;AK315073;AL138834;AL158830;AMYH02019470;AMYH02019471;BC032240;BC050306;BC060806;BC137093;BX648668;CH471071;D50406;E13833;EF139848;JQ756320;NM_021111;XM_006716879 AAH60806;AAI37094;BAA34060;BAF85342;BAG37543;EAW58318;EAW58319;NP_066934;O95980;XP_006716942 Hs.388918 1336344;1688698;2179746;5014027 D13S1621;D6S438;RH28658;RH70038 ST15;hRECK OTTHUMP00000021369;membrane-anchored glycoprotein (metastasis and invasion);reversion-inducing cysteine-rich protein with Kazal motifs;suppression of tumorigenicity 15 (reversion-inducing-cysteine-rich protein with kazal motifs);suppression of tumorigenicity 5 (reversion-inducing-cysteine-rich protein with kazal motifs);suppressor of tumorigenicity 15 protein APPROVED protein-coding ENSG00000122707 HGNC:11345 05567 605227 REVIEWED 1346917 REEP2 receptor accessory protein 2 This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 5 5 5 q31 133895609 133903492 + 137774690 137782658 + 138439001 138446969 + 6480464;8699517;7240710 11161817;12477932;14702039;15489334;15550249;16271481;20943918;22379092;24355597;24388663;8125298;8619474;9110174 51308 A8K3D2;B4DE60;D6RB42;H0YAC5;Q9BRK0 ABBA01068673;AC113403;AF070551;AF251041;AK056193;AK223611;AK290547;AK291101;AK293480;AMYH02012291;AY562240;BC006218;BC148256;CH471062;DC374786;DC424086;NG_033967;NM_001271803;NM_016606;NR_073448;NR_073449 AAF63767;AAH06218;AAT70685;ADZ15996;BAD97331;BAF83236;BAF83790;BAG51643;BAG56971;EAW62137;EAW62138;EAW62139;EAW62140;NP_001258732;NP_057690;Q9BRK0 Hs.416090 1848629 SGC32445 C5orf19;SGC32445;SPG72 OTTHUMP00000159492;OTTHUMP00000159493;OTTHUMP00000224017;receptor expression enhancing protein 2;receptor expression-enhancing protein 2 protein-coding ENSG00000132563 HGNC:17975 16655 609347;615625 REVIEWED 1603350 REEP3 receptor accessory protein 3 INVOLVED IN mitotic nuclear envelope reassembly; nuclear envelope organization; FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); microtubule (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene diol epoxide I; coumestrol 10 10 10 q21.3 58548607 58652369 + 65281113 65384883 + 63521353 63625123 + 6480464 12477932;15164054;15489334;15550249;16271481;16385451;17207965;17290275;18940312;20379614;21890473;21906983;21987572;22354554;22936694;23000965;23911198;24026423;24250222;24722188 221035 Q6NUK4;X5DP57;X5DR89;X6R3X1 ABBA01019504;AC022022;AC022387;AK289976;AL607062;AMYH02023203;AMYH02023204;AMYH02023205;AY562241;BC010040;BC018658;BC038724;BC057832;BC068557;CH471083;CR936686;CS320135;KJ534927;KJ535017;KJ535031;NM_001001330;XM_005269620 AAH10040;AAH18658;AAH57832;AAH68557;AAT70686;ADQ32008;AHW56567;AHW56656;AHW56670;BAF82665;CAK96042;EAW54246;NP_001001330;Q6NUK4;XP_005269677 Hs.499833 1650351;1854098;1855308 RH69842;SHGC-3980;STS-W16868 C10orf74;MGC87479 OTTHUMP00000019681;receptor expression enhancing protein 3;receptor expression-enhancing protein 3 protein-coding ENSG00000165476 HGNC:23711 16582 609348 VALIDATED 1319884 REEP6 receptor accessory protein 6 INVOLVED IN regulation of intracellular transport (inferred); FOUND IN nucleus; INTERACTS WITH 5-aza-2'-deoxycytidine; acetylsalicylic acid; aflatoxin B1 19 19 19 p13.3 1425157 1431938 + 1491165 1497924 + 1491011 1497925 + 737633;6480464 12477932 14702039;15489334;15550249;16189514;16271481;17207965;19913121;19924442;20628086;21988832;24250222;24816145 92840 A8MWX0;A8MXN1;Q96HR9 ABBA01002648;AC027307;AK058112;AK293919;AK315744;AMYH02035152;AX775999;AY562244;BC008201;CH471139;NM_138393;XM_006722935 AAH08201;AAT70689;ADQ33209;BAB71670;BAG38098;BAG57300;CAE11699;EAW69491;EAW69492;EAW69493;NP_612402;Q96HR9;XP_006722998 Hs.76277 1690045 RH92355 C19orf32;DP1L1;FLJ25383;TB2L1 OTTHUMP00000178555;OTTHUMP00000178556;OTTHUMP00000178792;deleted in polyposis 1-like 1;polyposis locus protein 1-like 1;receptor expression enhancing protein 6;receptor expression-enhancing protein 6 protein-coding HGNC:30078 16629 609346 PROVISIONAL 1321946 RECQL5 RecQ protein-like 5 The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 17 17 17 q25 70213035 70253352 - 73622925 73663270 - 75626845 75667190 - 1580863;6480464;8554872 10471747;10710432;12477932;15241474;15342556;15489334;16169070;16344560;17003056;18003859;18029348;18290761;18419580;18562274;19270065;19570979;20081208;20231364;20348101;20643585;21145461;21402780;21890473;21988832;22633600;22645136;22939629;22973052;22990118;23180761;23627586;23748380;24213927;24287950;24319145;24816145;24836610;9878247 9400 B3KQK2;J3KRM6;J3KS37;J3KSL7;J3KSV9;J3KTQ2;J3QLU0;O94762;Q6P4G0;Q8WYH5 AB006533;AB042823;AB042824;AB042825;ABBA01028775;ABBA01028776;AC087749;AF135183;AF193041;AI537883;AI684041;AK075084;AK304168;AL136869;AMYH02034000;BC000570;BC005103;BC016911;BC042989;BC063440;BI116483;BP272369;CH471099;CR533497;DB091647;EF560729;N53539;NG_029617;NM_001003715;NM_001003716;NM_004259;XM_005257818;XM_005257822;XM_005257823;XM_006722186 AAD43061;AAD43062;AAG22469;AAH00570;AAH05103;AAH16911;AAH63440;ABQ59039;BAA74454;BAA95952;BAA95953;BAA95954;BAG52064;BAH14123;CAB66803;CAG38528;EAW89289;EAW89290;EAW89291;EAW89292;EAW89293;EAW89294;EAW89295;NP_001003715;NP_001003716;NP_004250;O94762;XP_005257875;XP_005257879;XP_005257880;XP_006722249 Hs.632229 1688080;1688082;1689213;1697944;1729831;1846568;2167578;2219622;5020946;5022200;5022651 D11S2921;D17S609;L17971;L18426;RECQL5__5478;RH102501;RH48367;RH78659;RH91261;RH91485;RH98978 FLJ90603;RECQ5 ATP-dependent DNA helicase Q5;DNA helicase, RecQ-like type 5;RecQ protein 5 APPROVED protein-coding ENSG00000108469 HGNC:9950 04806 603781 REVIEWED 1348654 RDX radixin Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 11 11 11 q23 107253634 107320905 - 110045605 110167437 - 110174880 110296712 - 1580863;6480464;7240710;8554872;8699517 10806479;10816569;11375520;12068294;12070130;12226091;12360288;12385025;12477932;12499563;12522145;12734202;1429901;14499480;14568249;15096511;15149851;15178693;15252013;15313460;15489334;15818415;15840729;16502470;16889625;17226784;17237445;17321526;17349711;17515952;17725603;17825285;18029348;18295815;18781797;18941185;19056867;19124745;19129194;19152423;19215054;19255442;19322201;19615732;19754948;19830727;19890007;20301607;20639865;20679347;20855527;21047789;21139048;21160029;21182205;21278069;21278261;21282464;21352885;21659656;21837648;21864676;21890473;21906983;21963094;21987572;22053931;22089331;22132106;22179828;22291017;22467863;22469515;22505724;22631643;22685202;22863883;22891241;22939629;23000965;23116763;23326330;23503679;23602568;23703860;23729486;24457600;24788249;24816145;25015289;8486357;8858161;8889548;9184664;9287351;9348291;9430655;9456324;9472040;9501018;9681826 5962 B0YJ88;E9PKN5;E9PN07;E9PNP4;E9PNV3;E9PQ82;E9PRS5;H0YE16;P35241;Q6PKD3 ABBA01039834;ABBA01039835;ABBA01039836;ABBA01039837;ABBA01039838;ABBA01039839;AF086024;AK295075;AK312903;AK316061;AMYH02025565;AMYH02025566;AMYH02025567;AP000901;AP002788;BC002626;BC020751;BC029467;BC047109;BI600187;BX648536;CF124193;CF265114;CH471065;DQ916738;DQ916739;DQ916740;DQ916741;DQ916742;EF445024;L02320;N92548;NG_023044;NM_001260492;NM_001260493;NM_001260494;NM_001260495;NM_001260496;NM_002906 AAA36541;AAH02626;AAH20751;AAH29467;AAH47109;ABI34710;ABI34711;ABI34712;ABI34713;ABI34714;ACA06066;BAG35749;BAH11963;BAH14432;EAW67129;EAW67130;EAW67131;NP_001247421;NP_001247422;NP_001247423;NP_001247424;NP_001247425;NP_002897;P35241 Hs.263671;Hs.584560;Hs.741211 1334932;1656641;1675876;1681957;1685822;1690107;1710142;1775607;1778187;2108421;2126015;2133957;5017615;5120117;5124992 D11S927;GDB:196850;RDX;RDX_8589;RH115;RH27285;RH27475;RH27481;RH79199;RH80793;RH91872;SGC35288;SHGC-12842;SHGC-81559;WI-17994 DFNB24 OTTHUMP00000233538;OTTHUMP00000233539;OTTHUMP00000233540;OTTHUMP00000233543 APPROVED protein-coding ENSG00000137710 HGNC:9944 01534 179410;611022 REVIEWED 1346386 REG1B regenerating islet-derived 1 beta This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV based on the primary structures of the encoded proteins. This gene encodes a protein secreted by the exocrine pancreas that is highly similar to the REG1A protein. The related REG1A protein is associated with islet cell regeneration and diabetogenesis, and may be involved in pancreatic lithogenesis. Reg family members REG1A, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008] 2 2 2 p12 79140874 79143875 - 79312149 79315150 - 79085023 79088024 - 1580863;6480464;8554872 10625646;11396963;11796176;12369899;12477932;15340161;15342556;15489334;16169070;20056108;21586335;21900206;22018336;2226837;2332435;23519454;23553156;2394826;24007603;24152035;2493268;2525567;2764894;2963000;3108036;3541906;3665916;3908481;7607222;8110835;8333731;8348956;8549770;8654365;8961348;9814489 5968 H7BZ24;P48304;Q6ICS1 ABBA01075666;AC017004;AK308507;AK308515;AK312057;AMYH02004123;BC027895;BM310513;BP321590;CA867116;CH471053;CR450322;D16816;D17291;L08010;M27189;NM_006507 AAA18204;AAA60545;AAH27895;AAX88841;BAA04091;BAA04124;BAG34993;CAG29318;EAW99579;NP_006498;P48304 Hs.4158;Hs.708865 2154879;2166461;5122420 RH70262;RH78218;RH78902 PSP-2;PSPS2;REG-1-beta;REGH;REGI-BETA;REGL OTTHUMP00000160488;OTTHUMP00000202567;lithostathine 1 beta;lithostathine-1-beta;pancreatic stone protein 2;regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein);regenerating islet-derived protein 1-beta;regenerating protein I beta;secretory pancreatic stone protein 2 APPROVED protein-coding ENSG00000172023 HGNC:9952 01339 167771 REVIEWED 1602338 REG1P regenerating islet-derived 1 pseudogene 2 2 2 p12 79191358 79194282 - 79362629 79365553 - 79135503 79138427 - 6480464 12477932;14702039;15556304;8333731;8549770 5969 ABBA01075666;AC069387;AK126561;AMYH02004124;BC118544;D56494;D56495;NR_002714 AAX93046;BAA09543;BAA09544 Hs.49407;Hs.584797;Hs.716255 5122420;5125301 RH78218;SGC35492 REGL;RS pseudo HGNC:9953 17965 PROVISIONAL 1351031 REG3G regenerating islet-derived 3 gamma This gene encodes a member of the regenerating islet-derived genes (REG)3 protein family. These proteins are secreted, C-type lectins with a carbohydrate recognition domain and N-terminal signal peptide. The protein encoded by this gene is an antibacterial lectin with activity against Gram-positive bacteria. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012] 2 2 2 p12 79081561 79084366 + 79252812 79255630 + 79025686 79028504 + 6480464;8554872 12477932;12975309;15340161;15489334;15556304;15777617;15815621;16931762;22312430;24152035 130120 Q6UW15 AB161037;AB161038;AB161039;ABBA01075664;AC017004;AI025191;AK292595;AMYH02004123;AY359047;AY428734;BC103852;BC103853;BC103854;BI792387;BX280299;CH471053;CR541938;NM_001008387;NM_001270040;NM_198448;XM_005264135 AAI03853;AAI03854;AAI03855;AAQ89406;AAR88147;AAX88840;BAD51394;BAD51395;BAD51396;BAF85284;CAG46736;EAW99580;EAW99581;NP_001008388;NP_001256969;NP_940850;Q6UW15;XP_005264192 Hs.447084 LPPM429;MGC118998;MGC118999;MGC119001;PAP IB;PAP-1B;PAP1B;REG III;REG-III;UNQ429 OTTHUMP00000160487;OTTHUMP00000202565;OTTHUMP00000202566;PAPIB;REG-3-gamma;pancreatitis-associated protein 1B;pancreatitis-associated protein IB;reg III-gamma;regenerating gene III;regenerating islet-derived protein 3-gamma;regenerating islet-derived protein III-gamma APPROVED protein-coding ENSG00000143954 HGNC:29595 10137 609933 REVIEWED 1313134 REEP1 receptor accessory protein 1 This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 2 2 2 p11.2 86269251 86393245 - 86441116 86565206 - 86213993 86338083 - 737633;6480464;7240710;8554872;8699517 12477932 14702039;15489334;15550249;15815621;16271481;16344560;16720576;16826527;17979178;18321925;18364116;18644145;19034539;19072839;19161151;19322201;19781397;20200447;20301682;20379614;20718791;21618648;22703882;23108492;24051375;24355597;7829101 65055 E7ESS5;E7EUF7;F8W897;Q9H902;U3KPV7 AB073662;ABBA01075775;ABBA01075776;ABBA01075777;AC009309;AC009408;AK022775;AK023172;AK294300;AK297201;AK297287;AK297359;AK297373;AK299334;AL080222;AMYH02004192;AY562239;BC064846;BC139746;BI493883;CH471053;CR457301;DA495719;DB078037;NG_013037;NM_001164730;NM_001164731;NM_001164732;NM_022912;XM_005264502;XM_005264503;XM_005264504;XM_005264505;XM_006712078 AAH64846;AAI39747;AAT70684;AAX93132;BAB14444;BAH11727;BAH12523;BAH12538;BAH12561;BAH12565;BAH13005;CAG33582;EAW99457;EAW99458;NP_001158202;NP_001158203;NP_001158204;NP_075063;Q9H902;XP_005264559;XP_005264560;XP_005264561;XP_005264562;XP_006712141 Hs.368884 1645579;1662241;1672028;1853258;2110969;2111003;2121150;2139702;2139704;2155840;2181270 A001V44;Cda0hf07;D2S1432;D2S1982;D2S204E;D2S234E;D2S2907;G16358;G19700;IB589;STS-M78559 C2orf23;FLJ13110;HMN5B;SPG31 OTTHUMP00000160708;OTTHUMP00000203312;OTTHUMP00000209557;OTTHUMP00000209558;chromosome 2 open reading frame 23;receptor expression-enhancing protein 1 APPROVED protein-coding ENSG00000068615 HGNC:25786 07810 609139;610250;614751 REVIEWED 1352664 REG4 regenerating islet-derived family, member 4 ENCODES a protein that exhibits heparin binding; mannan binding; FOUND IN cytoplasm; INTERACTS WITH 5-fluorouracil; copper atom; copper(0) 1 1 1 p13.1-p12 118567357 118584911 - 120336641 120354203 - 119794018 119811580 - 1580863;6480464 11311942;12455032;12477932;12819006;14550954;14702039;15340161;15489334;15788672;16323007;16401477;16710414;16918991;18187959;18505053;18580680;18754868;19076683;19082448;19136934;19143768;19329938;19546835;19716164;19740514;19789838;19834624;19900450;19924642;20126989;20183800;20349522;20417867;20692269;21419474;21445968;21494603;21780125;22199273;22430847;22713481;22957785;23010741;23133598;23519454;24064664;24101199;24151146 83998 E9PNV6;Q9BYZ8 ABBA01068518;AF254415;AF345934;AK057107;AL359752;AMYH02001821;AY007243;AY126670;AY126671;AY126672;BC017089;BF242936;CH471122;CS288402;NM_001159352;NM_001159353;NM_032044;XM_006710941 AAG02562;AAH17089;AAK48435;AAK59869;AAM95598;AAM95599;AAM95600;ABM82693;ABM85877;CAK22302;EAW56711;EAW56712;EAW56713;EAW56714;NP_001152824;NP_001152825;NP_114433;Q9BYZ8;XP_006711004 Hs.660883 1692306;1766423 AL033808;SHGC-149761 GISP;REG-4;REG-IV;RELP;reg IV OTTHUMP00000014030;OTTHUMP00000014031;OTTHUMP00000014033;OTTHUMP00000229795;REG-like protein;gastrointestinal secretory protein;regenerating gene type IV;regenerating islet-derived protein 4;regenerating islet-derived protein IV protein-coding ENSG00000134193 HGNC:22977 17964 609846 VALIDATED 737018 REG1A regenerating islet-derived 1 alpha This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008] 2 2 2 p12 79176313 79179273 + 79347584 79350545 + 79120458 79123419 + 1580863;6480464;8699517;8554872 10348814;10526060;10526250;10625646;10662590;11396963;11796176;12369899;12477932;14508825;15022278;15166487;15211106;15340161;15489334;15628732;15765400;15778284;15952740;16341674;17990360;18024479;18259819;18289358;18452172;18630596;18781363;19032369;19329938;20056108;20065946;20099282;20379614;20835340;20972946;21586335;21683984;21691750;21832049;21867979;22158612;22203215;2226837;23269672;2332435;23519454;23645481;23701206;23803251;2394826;24055447;24065141;24152035;24225137;2493268;2525567;2764894;2963000;3108036;3345835;3541906;3665916;3908481;8020983;8070617;8110835;8333731;8348956;8654365;8889549;8961348;9823399 5967 A8K7G6;P05451 ABBA01075666;AC017004;AC069387;AF172331;AK291981;AK307292;AMYH02004124;AW873911;BC005350;BC110438;BC118621;BM769434;CH471053;J05412;M18963;M27190;NG_023271;NM_002909;W38384 AAA36558;AAA36559;AAA60546;AAD51330;AAH05350;AAI10439;AAI18622;AAX88842;BAF84670;EAW99576;EAW99577;EAW99578;NP_002900;P05451 Hs.49407 1774846;2121317;5122420 D2S2645;RH68977;RH78218 ICRF;MGC12447;P19;PSP;PSPS;PSPS1;PTP;REG OTTHUMP00000160485;REG-1-alpha;islet cells regeneration factor;islet of langerhans regenerating protein;lithostathine 1 alpha;lithostathine-1-alpha;pancreatic stone protein, secretory;pancreatic thread protein;protein-X;regenerating islet-derived 1;regenerating islet-derived protein 1-alpha;regenerating protein I alpha APPROVED protein-coding ENSG00000115386 HGNC:9951 01338 167770 REVIEWED 1353567 RELB v-rel avian reticuloendotheliosis viral oncogene homolog B ENCODES a protein that exhibits core promoter binding (ortholog); INVOLVED IN circadian regulation of gene expression (ortholog); PARTICIPATES IN interleukin-12 signaling pathway; nuclear factor kappa B signaling pathway; mitogen activated protein kinase signaling pathway; ASSOCIATED WITH Breast Neoplasms; Carcinoma, Transitional Cell; Cerebral Hemorrhage (ortholog); FOUND IN cytoplasm; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-(2,6-dioxopiperidin-3-yl)-1H-isoindole-1,3(2H)-dione 19 19 19 q13.32 42309022 42345751 + 45504707 45541456 + 45001449 45038198 + 1580863;2292172;6480464;6484113;6907045;2298697;7777161;7777162;7777148;7777149;7777150;2300264;2302394;7777164;7777163;2300270;6483553 10630383;10940923;11919155;12452071;12897145;16260626;17250675;18267068;21640702;22017545;23196258;9328931;9724088 10207088;10225209;10384093;10393859;10400814;10446807;10480634;10540217;10580107;10644332;10644726;10671224;10799874;11044099;11160671;11241736;11299302;11385624;11511100;11522182;11579140;11687592;11704662;11827962;11833470;12167619;12365017;12427593;12473373;12477932;12482669;12485413;12505990;12820969;12874295;14678988;14707079;14743216;1505523;15265917;1531086;15315978;15489334;15596805;1577270;15799966;1583734;16107733;16261162;16344560;16551621;16902410;16951372;16960152;16982744;17183367;17446175;17823304;17900530;17962807;18434448;18466468;18620544;18660489;18688039;19020113;19131627;19219072;19351823;19373868;19433448;19573080;19655301;19690169;19773279;19903458;19913121;20353939;20448286;20460684;20564628;20568250;20628086;20844054;20873783;21062507;21139048;21217772;21310030;21856005;21873235;21884980;21988832;22065573;22388891;22396550;22403723;22485186;22734038;22777360;22780967;22864569;22894897;22968463;23236068;23394901;23451236;23453579;23547379;23548901;23555623;23898208;24042463;24056880;24509793;24524692;7494249;7690421;7729429;7800480;7838536;7859743;8113688;8183565;8188306;8207793;8441398;8615004;8627654;8676466;8709193;8724035;8834464;8889548;9110146;9278385;9510190;9525916;9566873;9730685;9792375 5971 D6R992;D6RIV7;K7ERX9;Q01201 ABBA01040900;ABBA01040901;ABBA01040902;ABBA01040903;ABBA01040904;ABBA01040905;ABBA01040906;ABBA01040907;AC011489;AF043463;AK290594;AL583128;AMYH02036187;AMYH02036188;AW137991;BC028013;BI906507;BM684710;CH471126;DA940587;DQ314887;M83221;NM_006509;XM_005259127;XM_005259128 AAA36127;AAC82346;AAH28013;ABC40746;BAF83283;EAW57316;NP_006500;Q01201;XP_005259184;XP_005259185 Hs.654402 2110701;5014471 RELB_8590;WI-12248 I-REL;IREL;REL-B OTTHUMP00000221312;OTTHUMP00000221313;transcription factor RelB;v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3);v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 APPROVED protein-coding ENSG00000104856 HGNC:9956 06886 604758 VALIDATED 1313209 RELL2 RELT-like 2 ENCODES a protein that exhibits collagen binding (inferred); INVOLVED IN positive regulation of cell-substrate adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN basement membrane (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 5 5 5 q31.3 137093245 137097359 + 141016517 141020918 + 141636950 141641066 + 737633;6480464;8554872 12477932 12975309;14702039;15489334;16303743;16389068;19969290;22379092;24250222 285613 E5RFS6;E5RHA7;Q8NC24 ABBA01026405;AC008781;AK054889;AK075064;AMYH02012347;AY358163;BC009560;BC027919;BC063469;CH471062;CQ783064;NG_029678;NM_001130029;NM_173828;XM_005268414;XM_005268415;XM_005268417;XM_006714780 AAH63469;AAQ88530;BAC11380;CAF86269;EAW61911;EAW61912;EAW61913;EAW61914;NP_001123501;NP_776189;Q8NC24;XP_005268471;XP_005268472;XP_005268474;XP_006714843 Hs.120094 1770166;2136778 SGC30748;SHGC-58411 C5orf16;FLJ90583 OTTHUMP00000160012;OTTHUMP00000224540;RELT-like protein 2;chromosome 5 open reading frame 16;receptor expressed in lymphoid tissues like 2 protein-coding ENSG00000164620 HGNC:26902 12830 611213 VALIDATED 1604065 REG3A regenerating islet-derived 3 alpha This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Dec 2010] 2 2 2 p12 79212862 79215608 - 79384132 79386880 - 79157006 79159754 - 6480464;8554872 10662590;11278730;12477932;12890698;1325291;1469087;15489334;16116631;16931762;16963458;17998566;18192873;19051257;19077460;19095652;19158046;19254208;19416921;20201926;20382864;20536387;21643999;22727489;22943287;23388332;23519454;23743605;24096422;24256734;7679928;7721106;8076648;8188210;8997243;9151782 5068 Q06141;Q53S56 ABBA01075666;AC069387;AK291973;AK311523;AK311526;AMYH02004124;AY544128;AY544130;BC036776;BQ777112;CH471053;D13510;D30715;DC300833;L15533;M84337;NG_029902;NM_002580;NM_138937;NM_138938;S51768;X68641;X79988 AAA36415;AAA60020;AAB24642;AAH36776;AAT11159;AAT11161;AAX93047;ABM81643;ABM84823;BAA02728;BAA21104;BAF84662;CAA48605;EAW99570;EAW99571;EAW99572;NP_002571;NP_620354;NP_620355;Q06141 Hs.567312 1768774;5117901 D2S2561;GDB:631913 FLJ18565;HIP;HIP/PAP;PAP;PAP-H;PAP1;PBCGF;REG-3-alpha;REG-III;REG3;reg III-alpha INGAP;OTTHUMP00000160486;OTTHUMP00000202832;PAP homologous protein;hepatocarcinoma-intestine-pancreas;hepatointestinal pancreatic protein;human proislet peptide;pancreatic beta cell growth factor;pancreatitis-associated protein 1;proliferation-inducing protein 34;proliferation-inducing protein 42;regenerating islet-derived protein 3-alpha;regenerating islet-derived protein III-alpha APPROVED protein-coding ENSG00000172016 HGNC:8601 01342 167805 REVIEWED 1322580 REL v-rel avian reticuloendotheliosis viral oncogene homolog This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014] 2 2 2 p13-p12 60952347 60993771 + 61108709 61171410 + 60881574 60944284 + 1580863;2292172;2300264;2300268;2300275;2300270;6480464;6484113 10713699;12452071;12897145;15481028;18267068 10329626;10498867;10562553;10602468;10706725;11254713;11587641;11830490;11830502;11967310;11971907;12477932;12478664;12504005;12511414;12556500;12588973;12761501;12829026;1406630;1437141;14534540;14615382;14743216;14744759;14961076;15024091;15143182;15146197;1549370;15551733;15578091;15660915;1577270;15799966;15870177;1620118;16319921;1650444;16896156;17011549;17243160;1727488;17335903;1740106;17962807;18006812;18037997;18089804;18434448;18466468;18593911;18660489;18695674;1891714;18990758;19110719;19240061;19503088;19573080;19706790;19773279;19913121;19945995;19948376;20038977;20190752;20228198;20228799;20448286;20453842;20460684;20519647;20568250;20575024;20628086;20801175;20876593;20953190;21037568;21102463;21283787;21402701;21425313;21451109;21490927;21498517;2155506;21890374;21933882;21984918;21988832;22065573;22170493;22412388;22459418;22580300;22955189;23106574;23128233;23195252;23892589;23911423;23982203;23982206;23997224;24337154;24338397;24390342;24489016;24529102;24550032;24722188;2666912;3016517;3529946;7862168;7886940;7929355;7933095;8139561;8152812;8413211;8413269;8415639;8423996;8510222;8547649;8621542;8666258;8670842;8887627;9058790;9135156;9250404;9315679;9510190;9639522;9731206;9769479;9837938;9950430 5966 Q04864 AA279919;ABBA01075339;ABBA01075340;AC010733;AK303926;AMYH02003916;BC051005;BC117191;BC143885;BG036646;BX111941;CH471053;CN414487;DQ314888;HI573896;HY123671;L41414;M11595;NM_001291746;NM_002908;X75042;XM_005264470;XM_005264471;XM_005264472 AAA52073;AAI17192;AAI43886;ABC40747;BAG64854;CAA52954;CBX47437;EAX00028;NP_001278675;NP_002899;Q04864;XP_005264527;XP_005264528;XP_005264529 Hs.631886;Hs.633256 1653037;1656452;1706166;1729087;5024039 D16S325;RH70902;Rel;SHGC-35444;SHGC-80607 C-Rel C-Rel proto-oncogene protein;OTTHUMP00000159786;OTTHUMP00000201246;oncogene REL, avian reticuloendotheliosis;proto-oncogene c-Rel;v-rel reticuloendotheliosis viral oncogene homolog APPROVED protein-coding ENSG00000162924 HGNC:9954 01286 164910 REVIEWED 1625842 RELL1 RELT-like 1 FOUND IN cytoplasm; microtubule cytoskeleton; plasma membrane; INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; cyclosporin A 4 4 4 p14 38031897 38127507 - 37592422 37687999 - 37588059 37686377 - 6480464 12477932;16303743;16344560;16389068;18029348;19969290;20379614;21139048;21906983;23382691 768211 D6RBN9;Q8IUW5 ABBA01074308;ABBA01074309;ABBA01074310;ABBA01074311;AC027607;AC108022;AI016583;AK025431;AK075468;AMYH02009028;AMYH02009029;AMYH02009030;BC039540;CH471069;DA400382;DA491231;KF457754;NM_001085399;NM_001085400;XR_427509 AAH39540;AAY41016;BAC11638;EAW92885;NP_001078868;NP_001078869;Q8IUW5 Hs.283378 1716467;1749537;2137939;2141024;2155785;2156508;5014051;5015619;5015881;5015961;5022463;5022651;5037552 D11S2921;D11S3114;D15S1477;D3S1673;D4S2544E;D8S2278;D8S2279;GDB:335751;RH121413;SHGC-111243;SHGC-16480;SHGC-59841;STS-H93265 FLJ21778;MGC50583 OTTHUMP00000218143;OTTHUMP00000218144;OTTHUMP00000218145;RELT-like protein 1;receptor expressed in lymphoid tissues like 1;tmp_locus_29 protein-coding ENSG00000181826 HGNC:27379 611212 VALIDATED 1315250 REEP4 receptor accessory protein 4 ENCODES a protein that exhibits microtubule binding (ortholog); INVOLVED IN mitotic nuclear envelope reassembly; nuclear envelope organization; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; atrazine 8 8 8 p21.3 20957454 20961369 - 21995533 21999448 - 22138020 22141935 - 737633;6480464;8554872 12477932 14702039;15489334;15498874;15550249;16271481;17081983;21139048;21890473;21906983;23000965;23505323;23911198;24250222;24255178 80346 E5RGS2;E5RIB5;Q9H6H4 ABBA01005505;AC105206;AF218014;AK025899;AK025930;AK172846;AK302352;AMYH02017589;AY562242;BC013048;BC050622;CH471080;CR457353;NM_025232;XM_006716403 AAG17256;AAH13048;AAH50622;AAT70687;ADZ16008;BAB15274;BAB15285;BAD18810;BAG63678;CAG33634;EAW63710;EAW63711;EAW63712;EAW63713;EAW63714;EAW63715;NP_079508;Q9H6H4;XP_006716466 Hs.289063 1679802 RH92812 C8orf20;FLJ22246;FLJ22277;PP432 OTTHUMP00000162216;OTTHUMP00000224810;OTTHUMP00000224812;OTTHUMP00000224813;receptor expression enhancing protein 4;receptor expression-enhancing protein 4 protein-coding ENSG00000168476 HGNC:26176 09864 609349 PROVISIONAL 1315248 REM1 RAS (RAD and GEM)-like GTP-binding 1 The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 26819299 26828898 + 30063091 30072708 + 31475288 31484905 + 1580863;6480464 10441394;10831614;11780052;12477932;14623965;15489334;16648185;17686775;22939629 28954 O75628 ABBA01019309;ABBA01019310;AF084465;AF152863;AK313060;AL121751;AMYH02036895;BC039813;BT020078;BT020079;CH471077;KF456877;NM_014012;XM_005260404 AAC33132;AAF74212;AAH39813;AAV38881;AAV38882;BAG35890;EAW76439;EAW76440;EAW76441;EAW76442;NP_054731;O75628;XP_005260461 Hs.247729 1337554;1689069 D20S484;RH91899 GD:REM;GES;MGC48669;REM GTP-binding protein REM 1;GTPase GES;GTPase-regulating endothelial cell sprouting;OTTHUMP00000030521;rad and Gem-like GTP-binding protein 1 APPROVED protein-coding ENSG00000088320 HGNC:15922 15237 610388 REVIEWED 733550 REM2 RAS (RAD and GEM)-like GTP binding 2 ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); INVOLVED IN GTP catabolic process (inferred); signal transduction (inferred); small GTPase mediated signal transduction (inferred); FOUND IN membrane (inferred); plasma membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; (S)-nicotine (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q11.2 3215328 3219787 + 23352374 23356889 + 22883113 22887680 + 6480464 10727423;11181995;12477932;14702039;15489334;15728182;18056257;20231315;21044950;21485012;21980534;22815963;23991227 161253 B7Z5P1;Q8IYK8 ABBA01061288;AK096283;AK299238;AL135998;AMYH02028852;BC035663;CH471078;NM_173527;XM_005267381;XM_005267382;XM_005267383 AAH35663;BAC04746;BAH12977;EAW66231;NP_775798;Q8IYK8;XP_005267438;XP_005267439;XP_005267440 Hs.444911 1701396;2162000 G31058;RH104328 FLJ38964 GTP-binding protein REM 2;OTTHUMP00000243389;Rad and Gem-related 2 (rat homolog);rad and Gem-like GTP-binding protein 2;rad and gem related gtp binding protein 2 APPROVED protein-coding ENSG00000139890 HGNC:20248 08248 VALIDATED 1344723 RENS1 Renpenning syndrome 1 ASSOCIATED WITH Renpenning syndrome 1 (inferred) 7240710 7211958 5974 HGNC:9960 309500 1313376 RELT RELT tumor necrosis factor receptor The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 70392805 70413911 + 73087405 73108519 + 73376360 73397474 + 1580863;6480464 11313261;12477932;14702039;15340161;15489334;16389068;16530727;16547002;16950202;19969290 84957 F5GYS9;F5H2T5;Q969Z4 ABBA01017522;AF319553;AK027899;AK057036;AK074128;AK310103;AMYH02025087;AP000562;AP000763;BC001812;BC017279;BC051810;CH471076;NM_032871;NM_152222;XM_005274356;XM_006718714;XR_428928 AAH17279;AAH51810;AAK77356;ABM83544;ABM86784;BAB55441;BAB84954;BAG51848;EAW74892;EAW74893;EAW74894;EAW74895;EAW74896;EAW74897;EAW74898;NP_116260;NP_689408;Q969Z4;XP_005274413;XP_006718777 Hs.533720 1658733;1667247;2129548 RH11512;RH47066;WI-18544 FLJ14993;TNFRSF19L;TRLT OTTHUMP00000237525;OTTHUMP00000237533;receptor expressed in lymphoid tissues;tumor necrosis factor receptor superfamily member 19L;tumor necrosis factor receptor superfamily, member 19-like APPROVED protein-coding ENSG00000054967 HGNC:13764 15544 611211 REVIEWED 736366 REN renin Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. [provided by RefSeq, Jul 2008] 1 1 1 q32 177259194 177270715 - 204123944 204135465 - 204154816 204166337 - 1580671;1580697;1580698;1581742;1581739;1598878;1579795;1580863;2311695;6480464;6892690;6771379;6771378;6892702;6892655;6892688;6892701;6892687;6784503;6784501;6907045;7240710;8554872;8699517 12854169;15367398;15489960;15638741;16116425;16138564;16467505;16672920;1759997;19509012;21906029;21911268;22266601;22378822;22493079;22648117;22681982;22796710 11015597;11098137;11224002;11409653;11751703;11776100;11800056;11803527;11847188;11903315;11967817;12045255;12186695;12394950;12431442;12431445;12473863;12477932;12544508;12556231;12569263;12613527;12684512;12695419;12736712;12862204;12933794;14530292;15015130;15075192;15342556;15368359;15489334;15662219;15739123;15914614;15914769;1597471;16036389;1608447;16169070;16189286;16375820;16396763;16446393;16615274;16672053;16710414;16790508;16933186;16940215;16990260;17158202;17207965;17416596;17455195;17476284;17485830;17546276;17562974;17660193;17693975;17703434;17785633;17851801;18029348;18077515;18091737;18175911;18188989;18192836;18202178;18205094;18212269;18259612;18260994;18325076;18483152;18486430;18508487;18519826;18632798;18698213;18718746;18722896;18794727;18856058;18922597;18953568;19023100;19073901;19082699;19126660;19144755;19243623;19369955;19473121;19513539;19536175;19664745;19673942;19716087;19733264;19759335;19761684;19891555;19913121;20160196;2016271;2017226;20201926;20223792;20379614;20429690;20452482;20486282;20502328;20529973;20537141;20577119;2061332;20619546;20628086;20662730;20673868;20702505;20826507;20861226;20884641;20925572;20927107;21036942;21084044;21111986;21163863;21330419;21330422;21340620;21424086;21443456;21473025;21490026;21521263;21576655;21659414;21697610;21712789;21742440;21831501;2186807;21881521;21941204;21941205;22022827;2203348;22042811;22136493;22396488;22453004;22459392;22575890;22676457;22695510;22721990;23077077;23108193;23111329;23292178;23461768;24164175;24218434;24284398;2450565;2493678;24965793;2540188;2960682;3032746;3066525;3288503;3297510;3516796;3530608;3542996;6089171;6091130;6138751;6324167;6391881;6398949;7584914;8344672;8387539;8494607;8735181;8901832;9928950;9933256 5972 P00797 ABBA01027450;ABBA01027451;AF117822;AL592114;AL592146;AMYH02002532;AY436324;BC033474;BC047752;BP321283;CH471067;CR536498;EU332871;L00064;L00073;M10152;M13253;M15410;M26440;M26901;NG_012122;NM_000537;X00063 AAA60262;AAA60263;AAA60363;AAA60364;AAA60365;AAD03461;AAD26254;AAH33474;AAH47752;AAR03502;ABY87560;ADQ33130;CAA24937;CAG38737;EAW91505;NP_000528;P00797 Hs.3210 1741563;1741843;1768589;1784932;2130394 GDB:181533;GDB:185507;SHGC-101663;SHGC-76202;SHGC-76203 FLJ10761;HNFJ2 OTTHUMP00000034311;angiotensin-forming enzyme;angiotensinogenase;renin 1;renin precursor, renal APPROVED protein-coding ENSG00000143839 HGNC:9958 01564 179820;267430;613092 REVIEWED 1353425 RENS2 Renpenning syndrome 2 (Renpenning-like syndrome) 5975 HGNC:9961 2306721 REP15 RAB15 effector protein REP15 is a binding partner of the RAB GTPase family member RAB15 that facilitates transferrin receptor (TFRC; MIM 190010) recycling from the endocytic recycling compartment (Strick and Elferink, 2005 [PubMed 16195351]).[supplied by OMIM, Mar 2008] 12 12 12 p11.22 32995018 32996156 + 27849428 27850566 + 27696495 27697633 + 6480464;8554872 12477932;16195351 387849 Q6BDI9 ABBA01068049;AC009509;AMYH02026246;AY662682;BC140921;NM_001029874 AAI40922;AAT76304;NP_001025045;Q6BDI9 Hs.269836 1680170 RH99304 RAB15EP OTTHUMP00000240419 APPROVED protein-coding ENSG00000174236 HGNC:33748 610848 PROVISIONAL 1347617 REPIN1 replication initiator 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN DNA replication (inferred); regulation of fatty acid transport (inferred); regulation of glucose import in response to insulin stimulus (inferred); FOUND IN nucleus; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; amiodarone 7 7 7 q36.1 144622973 144628227 + 150065361 150071133 + 150368133 150374044 + 737633;6480464 12477932 10606657;11328883;12853948;15146197;15489334;16344560;16540471;16751776;16924111;18029348;18338249;18854154;20467438;20727851;20811636;2174103;2247056;22863883;24285725;24457600;24654937;8125298;8355269 29803 C9J0L4;C9J590;C9J7D4;C9J7L2;C9JYJ8;C9JZE3;E5RK52;E7EVL6;Q9BWE0 AACC02000108;ABBA01035189;AC005586;AF201303;AJ245553;AK025356;AK225227;AK226081;AK292670;AL046625;AMYH02017057;BC000363;BC001760;CA449524;CH471173;CN386958;CX166683;CX756128;DB161182;DQ582093;DQ594555;NM_001099695;NM_001099696;NM_013400;NM_014374;XM_005249985;XM_006715947;XM_006715948;XM_006715949;XM_006715950;XM_006715951;XM_006715952;XM_006715953 AAF26712;AAH00363;AAH01760;AAS00385;AAS00386;ABZ92325;BAF85359;CAB53100;EAL24474;EAL24475;EAW54113;EAW54114;EAW54117;EAW54118;EAW54119;NP_001093165;NP_001093166;NP_037532;NP_055189;Q9BWE0;XP_005250042;XP_006716010;XP_006716011;XP_006716012;XP_006716013;XP_006716014;XP_006716015;XP_006716016 Hs.647086;Hs.655734 1699422;2110703;2117693 D7S2895;REPIN1__6918;RH103302 AP4;RIP60;ZNF464;Zfp464 60 kDa origin-specific DNA-binding protein;60 kDa replication initiation region protein;ATT-binding protein;DHFR oribeta-binding protein RIP60;H_DJ0584D14.12;OTTHUMP00000212806;OTTHUMP00000212807;OTTHUMP00000212808;OTTHUMP00000212809;OTTHUMP00000212810;OTTHUMP00000212811;OTTHUMP00000212814;OTTHUMP00000225688;replication initiation region protein (60kD);zinc finger protein 464 (RIP60);zinc finger protein AP4;zinc finger proten AP4 protein-coding ENSG00000214022 HGNC:17922 17966 VALIDATED 1347143 REPS2 RALBP1 associated Eps domain containing 2 The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X p22.2 21145068 21292536 + 16964814 17171403 + 16946691 17220732 + 6480464;8554872 10393179;10557078;10764745;11882656;12149250;12771942;12775724;14702039;15184881;15455380;15604093;15707977;15809337;18029348;18154663;18474607;18647389;19776672;23741527;9422736;9928989 9185 B4DQQ8;Q8NFH8 AB208937;ABBA01071493;ABBA01071494;ABBA01071495;ABBA01071496;ABBA01071497;ABBA01071498;ABBA01071499;ABBA01071500;ABBA01071501;ABBA01071502;ABBA01071503;ABBA01071504;ABBA01071505;ABBA01071506;ABBA01071507;ABBA01071508;ABBA01071509;ABBA01071510;ABBA01071511;ABBA01071512;ABBA01071513;ABBA01071514;ABBA01071515;ABBA01071516;ABBA01071517;ABBA01071518;ABBA01071519;AF010233;AF511533;AF512951;AI221053;AK057127;AK097484;AK298913;AL732371;AL845433;AL929302;AL954659;AMYH02038935;AMYH02038936;AMYH02038937;CH471074;NG_012557;NM_001080975;NM_004726;XM_005274624;XM_005274625;XM_005274626;XM_006724523 AAC02901;AAM43933;AAM43953;BAD92174;BAG61020;EAW98922;EAW98923;NP_001074444;NP_004717;Q8NFH8;XP_005274681;XP_005274682;XP_005274683;XP_006724586 Hs.186810 1695392;1702392;1759539;1761283;1761331;1766917;2129354;2162114;2220278;5118506 AB056347;D11S3374;DXS1391;DXS9765;L77321;SHGC-145288;SHGC-145340;SHGC-151217;SHGC-152393;SHGC-68499 POB1 OTTHUMP00000022995;OTTHUMP00000196581;RALBP1-interacting protein 2;partner of Ral-binding protein 1;partner of RalBP1;ralBP1-associated Eps domain-containing protein 2 APPROVED protein-coding ENSG00000169891 HGNC:9963 02262 300317 REVIEWED 1351700 RER1 retention in endoplasmic reticulum sorting receptor 1 The protein encoded by this gene is a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golgi compartment to facilitate gamma-secretase complex assembly. [provided by RefSeq, Oct 2009] 1 1 1 p36 249823 263535 - 2323214 2336883 + 2391775 2405444 + 737633;1580863;6480464 12477932 14702039;15489334;16169070;16344560;17668005;21139048;21890473;21906983;22190034;23000965;23043097;23129766;23246001;23479743;24250222;24457600;24816145;8889548;9309388 11079 O15258;Q5T091;Q5T092;Q5T093;Q5T094 ABBA01016094;ABBA01016095;AF091071;AF157324;AJ001421;AK095750;AK289658;AL513477;AMYH02000122;AMYH02000123;BC004965;BC025684;BM682824;BT007224;CH471183;CR456806;DA409924;NG_016128;NM_007033;XM_005244713;XM_006710305;XM_006710306;XM_006710307 AAC72940;AAF67490;AAH04965;AAP35888;ADZ15502;BAF82347;CAA04754;CAG33087;EAW56109;EAW56110;EAW56111;EAW56112;EAW56113;EAW56114;NP_008964;O15258;XP_005244770;XP_006710368;XP_006710369;XP_006710370 Hs.525527 1646801;1651774;1671281;1796504;2137747;5019034;5114767 G43268;PEX10_1028;RH11651;SHGC-30638;SHGC-74082;SHGC-74114;STS-AA029578 RP4-740C4.2 OTTHUMP00000001502;OTTHUMP00000001503;OTTHUMP00000039098;OTTHUMP00000039099;RER1 retention in endoplasmic reticulum 1 homolog APPROVED protein-coding ENSG00000157916 HGNC:30309 17967 REVIEWED 732186 RENBP renin binding protein The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. [provided by RefSeq, Jul 2008] X X X q28 153434439 153443945 - 153200722 153210232 - 153935269 153944780 - 1580863;1300048;5132613;6480464;6907045;8699517 11726282 11098137;11256614;11467860;11926999;12394950;12446192;12477932;12499362;12612874;15489334;1618798;16189514;1723410;18029348;19056867;19913121;20486282;20628086;23969252;24043878;24250222;3924907;6756682;7721097;8088804;9285790;9305888;9990133 5973 A6NKZ2;F8WE83;H7C1A7;H7C2G7;H7C317;P51606 ABBA01045335;ABBA01045336;AK298125;AMYH02040849;AMYH02040850;BC015558;CH471172;D10232;D10711;KF510655;NG_012522;NM_002910;U52112 AAH15558;ABM83196;ABM86397;BAA01082;BAG60405;EAW72771;EAW72772;NP_002901;P51606 Hs.158331 1656793;1745105;1801026;1802238;1805318;1806938;1807152;1828234;1829048;1835564;1840386;2034442;2034444;2034446;2034448;2034450;2034452;2034454;2034456;2034458;2034460;2034462;2034464;2034466;2034468;2034470;2034472;2034474;2034476;2034478;2034480;2034482;2034484;2034486;2034488;2034490;2034492;2034494;2034496;2034498;2034500;2034502;2034504;2034506;2034508;2034510;2034512;2034514;2034516;2034518;2102132;2102134;2102136;2102138;2102140;2102142;2102144 ECD01379;ECD02002;ECD03606;ECD04434;ECD04542;ECD15242;ECD15651;ECD18938;ECD21378;GDB:594112;REN88230;REN88231;REN88232;REN88233;REN88234;REN88235;REN88236;REN88237;REN88238;REN88239;REN88240;REN88241;REN88242;REN88243;REN88244;REN88245;REN88246;REN88247;REN88248;REN88249;REN88250;REN88251;REN88252;REN88253;REN88254;REN88255;REN88256;REN88257;REN88258;REN88259;REN88260;REN88261;REN88262;REN88263;REN88264;REN88265;REN88266;REN88267;REN88268;RH17361;stSG603705;stSG603707;stSG603708;stSG603710;stSG603711;stSG603712;stSG603713 AGE;RBP;RNBP GlcNAc 2-epimerase;N-acetyl-D-glucosamine 2-epimerase;N-acylglucosamine 2-epimerase;OTTHUMP00000025998;OTTHUMP00000026000;renin-binding protein APPROVED protein-coding ENSG00000102032 HGNC:9959 02423 312420 REVIEWED 1314440 REEP5 receptor accessory protein 5 ASSOCIATED WITH Adenomatous Polyposis Coli (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH bisphenol A; cisplatin; coumestrol 5 5 5 q22-q23 108157648 108203589 - 112212081 112258339 - 112876384 112922334 - 6480464;8554872 12477932;15489334;15550249;16271481;16344560;1651562;1651563;1659692;16762630;1678319;17207965;18839057;18976975;19913121;20628086;21103663;21139048;21693764;21890473;21900206;21906983;21963094;21988832;22379092;22795047;8647449 7905 B7Z332;B7Z510;E2QRG8;H0Y8J8;Q00765 ABBA01069050;ABBA01069051;ABBA01069052;AC008536;AC008575;AK294496;AK295436;AK298268;AK299902;AK310729;AK312522;AMYH02011978;AMYH02011979;AY562243;BC000232;BC065926;BX648005;CH471086;CQ859774;DA807043;M74090;NM_005669 AAA66351;AAH00232;AAH65926;AAT70688;ADQ32585;BAG35421;BAH11789;BAH12068;BAH12746;BAH13167;CAH25937;EAW48993;EAW48994;EAW48995;NP_005660;Q00765 Hs.429608 1646623;1680661;1680677;1729592;1780870;2114182;2132553;2135642;2142390;2146750;2158472;2179957;5015308 D5S2375;D5S2385;D5S2454;D5S346;G15921;RH12409;RH66507;RH71327;RH71328;RH80911;SGC30055;WI-15463;bac53117T C5orf18;D5S346;DP1;MGC70440;TB2;YOP1 OTTHUMP00000159020;OTTHUMP00000195052;OTTHUMP00000223351;deleted in polyposis 1;polyposis coli region hypothetical protein DP1;polyposis locus protein 1;receptor expression enhancing protein 5;receptor expression-enhancing protein 5 protein-coding ENSG00000129625 HGNC:30077 15918 125265 VALIDATED 735880 RELN reelin This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q22 97918553 98435889 - 103112231 103629963 - 103471784 103989516 - 1358567;1580863;1358346;1358468;2324615;2317777;2317957;2317783;729771;634730;2317926;2317958;2317973;1358410;2324681;6480464;6484113;6907045;7240710;8699517;8554872 10436054;10973257;11126396;12122039;12645087;12764038;12893944;15749247;15820235;15961543;17314278;18449964;7715726;9861036 10328932;10571240;10571241;10612399;11137154;11317216;11408330;11520926;11689558;11711858;11880184;12082559;12087179;12135781;12143388;12167620;12192627;12363196;12363388;12376533;12399956;12670700;12690205;12834112;12853948;12899622;12931209;14515139;14702039;14702098;15006702;15048647;15048648;15464360;15558079;15655250;15690491;15718228;15790807;15965968;16266828;16472607;16481437;16510495;16556465;16941662;16951405;16979599;17310238;17360894;17365098;17366345;17431900;17548821;17621165;17684500;17696989;17870056;17955477;18282107;18384059;18593473;18597938;18599960;19010793;19054571;19058789;19086053;19156168;19230858;19401682;19436241;19633980;19691043;19713529;19720620;19847460;19922905;19936619;19948739;19956836;20010491;20025970;20053715;20064940;20150511;20379614;20431428;20434133;20436377;20442744;20452100;20468075;20554015;20554749;20642811;20659411;20697953;20727978;20734148;20847288;20882487;21145461;21315259;21395570;21549172;21603580;21630058;21745129;21814183;21844191;21863557;22006801;22006802;22023759;22203331;22393371;22394407;22419519;22495348;22614235;22797278;22933789;23082219;23216241;23236151;23274163;23277132;23632168;23934736;23951306;24170657;24239537;24344333;9049633;9847074 5649 H7C2B0;J3KQ66;P78509 ABBA01057979;ABBA01057980;ABBA01057981;ABBA01057982;ABBA01057983;ABBA01057984;ABBA01057985;AC000121;AC002067;AC005064;AC005101;AC006316;AC006981;AC010126;AC073208;AC079918;AK093843;AK293863;AK297459;AMYH02016451;AMYH02016452;AMYH02016453;AMYH02016454;AMYH02016455;AY101601;AY927583;CH236947;CH471070;KF458525;NG_011877;NM_005045;NM_173054;U79716 AAB46357;AAC51105;AAD29127;AAI72269;AAM49151;AAM51648;AAP22330;AAP22355;AAQ96860;AAS02019;BAG57256;BAG59882;EAL24410;EAL24411;EAW83336;EAW83337;EAW83338;NP_005036;NP_774959;P78509 Hs.655654 1298158;1341951;1662456;1663779;1696422;1716965;1754479;1774639;1787720;1788270;1796668;2115810;2118401;2120514;2142824;2143501;2164731;2166142;2184548;5125512;7183755;7185151;7185366;7186836 A008X27;AFM211ZB8;AFMB316ZD5;D7S1663;D7S2504;D7S3120;D7S796;D7S818;G17191;RELN;RELN_772;RH121863;RH12772;RH68525;SHGC-132750;SHGC-173033;SHGC-32029;SHGC-83349;STS-AA010356;WI-11169 LIS2;PRO1598;RL OTTHUMP00000211830;OTTHUMP00000211831 APPROVED protein-coding ENSG00000189056 HGNC:9957 02742 257320;600514 REVIEWED 1316142 REPS1 RALBP1 associated Eps domain containing 1 This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] 6 6 6 q24.1 139965691 140049451 - 139225620 139309419 - 138904015 138988282 - 6480464;8554872 11750063;12364336;12477932;12621024;15489334;16055720;17081983;17110338;17143522;17273774;19380743;20946875;21988832;22558309;24816145;7623849;9395447;9422736 85021 B2R7D3;E9PMG1;F2Z3L2;H0YCF0;H0YCR2;H0YDT0;H0YE73;H0YE89;H7C1V2;H7C225;Q96D71 AA025663;AA653442;AA706721;AB209143;ABBA01025802;AF251052;AI879474;AJ420514;AK312938;AL121834;AL590308;AL591033;AL831900;AL832307;AMYH02014586;AMYH02014587;AMYH02014588;AMYH02014589;AMYH02014590;BC012764;BC021211;BC035286;CA424106;CH471051;NG_034016;NM_001128617;NM_001286611;NM_001286612;NM_031922;R51073;XM_005267177;XM_005267178;XM_005267179;XM_006715587;XR_245555 AAH12764;AAH21211;AAK34942;ABM84259;ABM86875;BAD92380;BAG35780;CAD38569;EAW47903;EAW47904;EAW47905;EAW47906;EAW47907;NP_001122089;NP_001273540;NP_001273541;NP_114128;Q96D71;XP_005267234;XP_005267235;XP_005267236;XP_006715650 Hs.334603;Hs.732041 1648754;1667549;1671837;1726353;1748861;1751297;2134067;2147491;2157084;5093680 A009U44;G32860;G62477;RH16160;RH36111;RH48120;SHGC-105135;SHGC-110524;SHGC-64068;STS-AA025663 RALBP1 OTTHUMP00000017305;OTTHUMP00000017306;OTTHUMP00000017307;OTTHUMP00000017308;OTTHUMP00000236512;OTTHUMP00000236524;ralBP1-associated Eps domain-containing protein 1;ralBP1-interacting protein 1 protein-coding ENSG00000135597 HGNC:15578 09687 614825 REVIEWED 6481330 RERG-AS1 RERG antisense RNA 1 12 p12.3 15151923 15155283 + 100873980 ABBA01067888;AC007543;AMYH02026097;AW197661;BF508473;HG504550;KF455611;NR_046559 Hs.569154 RP11-1018J8.3 APPROVED ncrna ENSG00000255660 HGNC:39990 VALIDATED 1344336 RERE arginine-glutamic acid dipeptide (RE) repeats This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.23 7520570 7986441 - 8412464 8877699 - 8352404 8817640 - 1580863;6480464;8554872 10729226;10814707;11331249;11782456;12107413;12477932;12766061;14645126;14702039;15302935;16303743;16344560;16481466;16710414;16713569;17081983;18029348;18451879;18597038;19131340;19322201;20211142;20379614;20410501;20548946;21139048;21258344;21890473;21926974;22504420;23000965;23453885;23752268;9455484 473 B1AKN3;D6RA28;H0Y975;H7BYW9;K7EIE3;K7EIQ4;K7EJQ1;Q9P2R6 AB007927;AB036737;ABBA01035515;ABBA01035516;ABBA01035517;ABBA01035518;ABBA01035519;ABBA01035520;ABBA01035521;ABBA01035522;ABBA01035523;AF016005;AF041104;AF118275;AK074834;AK096094;AL050176;AL096855;AL356072;AL357552;AL357713;AMYH02000212;AMYH02000213;AMYH02000214;AMYH02000215;AMYH02000216;AMYH02000217;AMYH02000218;AMYH02000219;BC009619;BC062342;CD674939;CD679363;CH471130;DA868444;KF495857;KF495858;KF510737;NM_001042681;NM_001042682;NM_012102;XM_005263464;XM_005263465;XM_005263466;XM_006710653;XM_006710654 AAC28264;AAC31120;AAD27584;AAI67857;BAA32303;BAA95898;EAW71598;EAW71599;EAW71600;EAW71601;NP_001036146;NP_001036147;NP_036234;Q9P2R6;XP_005263521;XP_005263522;XP_005263523;XP_006710716;XP_006710717 Hs.463041 1336828;1644410;1661268;1669285;1669771;1692242;1692434;1699472;1720773;1720839;1728387;1732812;1733064;1748927;1748945;1754483;1757451;1760201;1766545;1770512;1770605;1774447;1778969;1851452;1855786;2121766;2124963;2125547;2152437;2171858;2184222 AL009675;AL009874;AL033782;AL033866;D1S1160;D1S1262;D1S1410;D1S1615;D1S1829E;D1S1833E;D1S3372;D1S3607;G59360;G59395;G63476;RH103328;RH46183;RH64522;RH68650;SHGC-110581;SHGC-110595;SHGC-132483;SHGC-132756;SHGC-144829;SHGC-149864;SHGC-32940;SHGC-34994;SHGC-74174;SHGC-74177;SHGC-74179;SHGC-74183 ARG;ARP;ATN1L;DNB1;FLJ38775;KIAA0458 OTTHUMP00000001701;OTTHUMP00000001702;OTTHUMP00000221011;OTTHUMP00000221012;OTTHUMP00000221015;arginine-glutamic acid dipeptide repeats protein;atrophin 2;atrophin-1 like protein;atrophin-1 related protein;atrophin-1-like protein;atrophin-1-related protein APPROVED protein-coding ENSG00000142599 HGNC:9965 05566 605226 REVIEWED 6481120 RERG-IT1 RERG intronic transcript 1 (non-protein coding) p12.3 100874290 AC007543 ncrna HGNC:39991 1349252 RERG RAS-like, estrogen-regulated, growth inhibitor RERG, a member of the RAS superfamily of GTPases, inhibits cell proliferation and tumor formation (Finlin et al., 2001 [PubMed 11533059]).[supplied by OMIM, Mar 2009] 12 12 12 p12.3 20405694 20519355 - 15260716 15374411 - 15107782 15221477 - 1580863;6480464;8554872 11533059;12477932;15489334;17207965;18029348;18676680;19170196;19625176;19692168;20697807;21270509 85004 F5GWE9;F5GYR1;F5H252;Q96A58 ABBA01067888;AC007543;AC022334;AF339750;AI125943;AK295343;AK311016;AK313881;AMYH02026097;BC007997;CH471094;DC331754;KF455609;KF455610;KF455611;NM_001190726;NM_032918 AAH07997;AAK98530;ABM84118;ADQ31628;BAG36607;BAG58314;EAW96345;EAW96346;NP_001177655;NP_116307;Q96A58 Hs.199487 1337338;1723895;1725927;1761179;2162763;2170524 A004W33;Bda17c02;D12S62;G62340;RH118683;SHGC-145192 MGC15754 OTTHUMP00000239348;OTTHUMP00000239349;OTTHUMP00000239350;OTTHUMP00000239351;OTTHUMP00000239353;ras-related and estrogen-regulated growth inhibitor APPROVED protein-coding ENSG00000134533 HGNC:15980 15238 612664 VALIDATED 1602860 RERGL RERG/RAS-like ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN GTP catabolic process (inferred); small GTPase mediated signal transduction (inferred); FOUND IN membrane (inferred); INTERACTS WITH aflatoxin B1; silicon dioxide 12 12 12 p12.3 23379334 23388645 - 18233803 18243139 - 18080869 18090193 - 6480464 12477932;17213182;24127187;9628821 79785 F5H686;G5EA41;Q9H628 AA220227;ABBA01067922;AC073504;AC087320;AK026308;AMYH02026122;BC042888;BX422875;CH471094;DT220095;NM_001286201;NM_024730;NR_104413;XM_006719152 AAH42888;ACT64546;ACT64547;BAB15439;EAW96384;EAW96385;EAW96386;NP_001273130;NP_079006;Q9H628;XP_006719215 Hs.732831 1675503;1675864;1704030;1706716;1723351 RH118492;RH80202;RH93985;SHGC-77817;SHGC-82864 FLJ22655 OTTHUMP00000239533;OTTHUMP00000239534;RERG/Ras-like protein;ras-related and estrogen-regulated growth inhibitor-like protein protein-coding ENSG00000111404 HGNC:26213 08659 VALIDATED 4109779 REREP3 arginine-glutamic acid dipeptide (RE) repeats pseudogene 3 15 15 15 q11.2 1204 1667 - 22546565 22570831 + 22258614 22282880 + 646396 ABBA01004289;ABBA01004290;ABBA01004291;ABBA01150897;AC025884;AMYH02030020;AMYH02030021;DN831801;DW010002;NR_033735 Hs.451294 1692434 AL033866 pseudo HGNC:38797 VALIDATED 1345045 RETNLB resistin like beta ENCODES a protein that exhibits hormone activity (inferred); PARTICIPATES IN interleukin-4 signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 3 3 3 q13.1 106871477 106873121 - 108474486 108476130 - 108755639 108757283 - 1580863;6480464;6484113;8554872 10921885;11090083;11209052;12224133;12477932;12574343;12975309;14598255;15064728;15489334;16427636;18594973;19251945;19967544;21094111;21602491;21828035;22371635;22726462;22758223;23392702;23702657 84666 Q2UXL7;Q9BQ08 ABBA01061700;AC092185;AF290873;AF323084;AF352731;AM050721;AMYH02007400;AY358655;BC069318;BC113502;BC113528;CH471052;NM_032579 AAG59827;AAH69318;AAI13503;AAI13529;AAK18622;AAK83105;AAQ89018;ADR82797;CAJ19371;EAW79719;NP_115968;Q9BQ08 Hs.307047 5493365;5494005 UniSTS:480717;UniSTS:485842 FIZZ1;FIZZ2;HXCP2;RELM-beta;RELMb;RELMbeta;XCP2 C/EBP-epsilon regulated myeloid-specific secreted cysteine-rich protein precursor 2;OTTHUMP00000215152;colon and small intestine-specific cysteine-rich protein;colon carcinoma-related gene protein;cysteine-rich secreted A12-alpha-like protein 1;cysteine-rich secreted protein A12-alpha-like 1;cysteine-rich secreted protein FIZZ2;found in inflammatory zone 1;resistin-like beta protein-coding ENSG00000163515 HGNC:20388 05734 605645 VALIDATED 1351972 RETNLG resistin like gamma 373068 AJ514933 HGNC:22961 1347756 REST RE1-silencing transcription factor This gene encodes a transcriptional repressor that represses neuronal genes in non-neuronal tissues. It is a member of the Kruppel-type zinc finger transcription factor family. It represses transcription by binding a DNA sequence element called the neuron-restrictive silencer element. The protein is also found in undifferentiated neuronal progenitor cells and it is thought that this repressor may act as a master negative regular of neurogenesis. Alternatively spliced transcript variants have been described [provided by RefSeq, Jul 2010] 4 4 4 q12 55279985 55307950 + 57774042 57802010 + 56907876 56935844 + 1580863;6480464;6907045;8554872 10449787;10491605;10521596;10570134;10734093;10766169;11406295;12192000;12399542;12477932;12492469;12628452;12829700;12881722;14565956;14633990;15009665;15035981;15068239;15197246;15200951;15240883;15302935;15322094;15489334;15528196;15681389;15767543;15897453;16247481;16253247;16288918;16330548;16417580;16442230;16478988;17011572;17023429;17130167;17468742;17540862;17555596;17709376;17823282;17984088;18029348;18234667;18284609;18354482;18354483;18385973;18518926;18570921;18691653;18771760;18806873;18818083;18922795;18959489;18990442;19061646;19134002;19149626;19173732;19246391;19342457;19401398;19426709;19439607;19539370;19631241;19846118;19913121;19913583;20011975;20080105;20170730;20392875;20548947;20564196;20624818;20628086;20652837;20697351;20926649;20942606;21106707;21139048;21221247;21252229;21258371;21396985;21536750;21693630;21832040;21909106;21921234;21948504;22017875;22228704;22396653;22419809;22496669;22530801;22532168;22569092;22665064;22668508;22684772;22701651;22792276;22821339;22958208;23000965;23069678;23084401;23086924;23151521;23168245;23216891;23238568;23250796;23284171;23598529;23614038;23651552;23928058;24068568;24126098;24135225;24163104;24235014;24415532;24500709;24654937;24670762;24760862;7697725;7871435;8568247;9756936 5978 Q13127 AB024498;AB209750;ABBA01003443;ABBA01003444;ABBA01003445;AC069307;AF228045;AMYH02009270;BC017822;BC038985;BC132859;BC136491;CH471057;JX896957;JX896958;JX896959;JX896960;JX896961;JX896962;JX896963;JX896964;JX896965;JX896966;JX896967;JX896968;JX896969;JX896970;JX896971;JX896972;JX896975;JX896981;JX896983;JX896989;JX896990;KC117262;KC117263;KC117264;KC117266;NG_029447;NM_001193508;NM_005612;U13877;U13879;U22314;XM_005265760 AAB17211;AAC50114;AAC50115;AAF61710;AAH17822;AAH38985;AAI32860;AAI36492;AFZ81807;AFZ81808;AFZ81809;AFZ81810;AFZ81811;AFZ81812;AFZ81813;AFZ81817;AFZ81819;AFZ81821;AFZ81822;AFZ81826;BAD92987;EAX05516;EAX05517;NP_001180437;NP_005603;Q13127;XP_005265817 Hs.307836 1643860;1649091;1649248;1680725;1750745;2219624 REST__5483;RH65065;SHGC-35370;SHGC-59569;STS-U22314;UniSTS:168889 NRSF;XBR OTTHUMP00000158972;RE1-silencing transcription factor variant E1a/E2/E3/E4c;RE1-silencing transcription factor variant E1a/E2/E3/E5;RE1-silencing transcription factor variant E1a/E2/E3/N3a/E4i;RE1-silencing transcription factor variant E1a/E2/E3/N3c/E4;RE1-silencing transcription factor variant E1a/E2/E4;RE1-silencing transcription factor variant E1a/E2k/E2i/E3/E4j;RE1-silencing transcription factor variant E1b/E2/E3/E5;RE1-silencing transcription factor variant E1b/E2/E3/N3b/E4i;RE1-silencing transcription factor variant E1b/E2/E3/N3c/E4;RE1-silencing transcription factor variant E1b/E2c/E2j/E3/E4;RE1-silencing transcription factor variant E1c/E2/E3/E5;RE1-silencing transcription factor variant E1c/E2g/E3/E4;X2 box repressor;neural-restrictive silencer factor;neuron restrictive silencer factor;repressor binding to the X2 box APPROVED protein-coding ENSG00000084093 HGNC:9966 08990 600571 REVIEWED 1349693 RETN resistin This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010] 19 19 19 p13.2 7605160 7606528 + 7733972 7735340 + 7669086 7670454 + 1624968;1580863;2313494;2313497;2313498;2313495;2307186;2313499;6480464;7207073;7207071;7240710;7207155;7207161;7207148;7207151;7207163;7207222;7207075;7207150;7207154;7207156;7207157;7207158;7207159;7207160;7207162;7207230;7207072;7207249;7207251;7207074;7207152;8554872 11201732;12629116;15523596;15670203;17175295;17303077;17598818;17919381;18373357;18789551;18997620;19177195;19269054;19381781;19408175;19545363;19738363;20171599;20178460;20203628;20560816;21425555;21885493;21994008;22240747;22421264;22468100;22630819;22816026;23058473 10921885;11090083;11209052;11358969;11558907;11809189;11872692;11872693;11901161;11978666;11994397;12050208;12213907;12213908;12477932;12502516;12504108;12647275;12660880;12679465;12700889;12730330;12829623;12874180;12965109;12975309;14514348;14521959;14557464;14602788;14671216;14687894;14688155;14697240;14715842;14733921;14740159;14967374;15055467;15064728;15070954;15111497;15130511;15221446;15248836;15326567;15338456;15489334;15517149;15526156;15533384;15545519;15598689;15705777;15741250;15754730;15757855;15798953;15842513;15843582;15862282;15864531;15886251;15928242;15944845;15956078;15983036;16039994;16061827;16087164;16115391;16137686;16143861;16159596;16313475;16394091;16395259;16418168;16478779;16496121;16525810;16532325;16586545;16608899;16670163;16675483;16685503;16721825;16756630;16822679;16921786;16934751;17067553;17148667;17177135;17178123;17183659;17184143;17207388;17207965;17208941;17223990;17287419;17299113;17327348;17365928;17374708;17383891;17384338;17384443;17392006;17441314;17445546;17525801;17526982;17565416;17635339;17698599;17705672;17727677;17785630;17924842;17967974;18023360;18059079;18167137;18180399;18221467;18234104;18239575;18257120;18280066;18283268;18381806;18410529;18422175;18440081;18446183;18446452;18465683;18498634;18501464;18565254;18577878;18654008;18660489;18709689;18710472;18768828;18787374;18798067;18800626;18815063;18828733;18957529;18975914;18979105;18996102;19056482;19058789;19065463;19074981;19125180;19126543;19162347;19178525;19188682;19223612;19225215;19243851;19247279;19249901;19262583;19273568;19351602;19372460;19408174;19420105;19440859;19445973;19454585;19491387;19544118;19560452;19578796;19717514;19719988;19727657;19754671;19770005;19811274;19821101;19840440;19848317;19882136;19888587;19913121;19920090;19922611;19948975;19955766;20034466;20061546;20082598;20091460;20093199;20106477;20150891;20177966;20215915;20300528;20306680;20346233;20360975;20422438;20435848;20464037;20538124;20591185;20602615;20628086;20628259;20637370;20648005;20670155;20671416;20734064;20802460;20810407;20836881;20842437;20855565;20889251;20951381;20979734;21029428;21050256;21050358;21140266;21154263;21163940;21167737;21173741;21184654;21187261;21190046;21212400;21251282;21254741;21264799;21277149;21293001;21323646;21325757;21345288;21382364;21441316;21497511;21520070;21535169;21546486;21557697;21633913;21671974;21681565;21712777;21714696;21742599;21750415;21778676;21796841;21803600;21813294;21874355;21915052;22038316;22146093;22167129;22167130;22261091;22296202;22296675;22425808;22434063;22479352;22491740;22534631;22547903;22554600;22554824;22575502;22577247;22595228;22683371;22701635;22744380;22809551;22843503;22848926;22866969;22869540;22884361;22886618;22898217;22934726;22935190;22944288;22971561;23020084;23086480;23103106;23137677;23160233;23178185;23193185;23197433;23203410;23291856;23294554;23321342;23327840;23360845;23383108;23400345;23406471;23432878;23449040;23484124;23509781;23518675;23548939;23666343;23685419;23729554;23734806;23827175;23888552;23919731;23933696;23954219;23955539;23981771;24008605;24012666;24044566;24070260;24072088;24116180;24119593;24123702;24134510;24164320;24259947;24273936;24282299;24414038;24462731;24548410;24719460;24780007;24830311;8211113 56729 Q9HD89 AB111910;ABBA01010893;AC008763;AF205952;AF290874;AF323081;AF352730;AMYH02035403;AMYH02035404;AY207314;AY359066;BC069302;BC101554;BC101560;CH471139;DQ301958;NG_023447;NM_001193374;NM_020415 AAG02144;AAG59824;AAH69302;AAI01555;AAI01561;AAK18621;AAK83106;AAO38860;AAQ89425;ABB96251;ADQ32888;BAD04068;EAW69015;EAW69016;NP_001180303;NP_065148;Q9HD89 Hs.283091 5492949;5494019 UniSTS:480729;UniSTS:483335 ADSF;FIZZ3;MGC126603;MGC126609;RETN1;RSTN;XCP1 C/EBP-epsilon regulated myeloid-specific secreted cysteine-rich protein precursor 1;adipose tissue-specific secretory factor;c/EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein;cysteine-rich secreted protein A12-alpha-like 2;cysteine-rich secreted protein FIZZ3;found in inflammatory zone 3;resistin delta2 APPROVED protein-coding ENSG00000104918 HGNC:20389 05714 125853;605565 REVIEWED 1320447 REXO1 REX1, RNA exonuclease 1 homolog (S. cerevisiae) ENCODES a protein that exhibits exonuclease activity (inferred); nucleic acid binding (inferred); INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 2-methylcholine; atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.3 1749329 1782534 - 1815245 1848520 - 1815246 1848519 - 737633;6480464;6907045;8554872 12477932 10574461;12943681;15302935;15489334;16169070;18029348;19322201;20463961;22596162;23437358 57455 K7ESH4;Q8N1G1 AB032964;ABBA01002687;ABBA01002688;ABBA01002689;AC012615;AK301030;AK301729;AK302362;AK308256;AK311255;AMYH02035167;AMYH02035168;BC016923;BC032244;CH471139;NM_020695;XM_005259599;XR_244036;XR_244037 AAH16923;AAH32244;BAA86452;BAG62645;BAG63195;BAG63687;EAW69450;EAW69451;NP_065746;Q8N1G1;XP_005259656 Hs.192477 1688841 RH98588 ELOABP1;EloA-BP1;KIAA1138;REX1;TCEB3BP1 RNA exonuclease 1 homolog;elongin A binding protein 1;elongin A-binding protein 1;elongin-A-binding protein 1;transcription elongation factor B polypeptide 3 binding protein 1;transcription elongation factor B polypeptide 3-binding protein 1 protein-coding ENSG00000079313 HGNC:24616 15478 609614 VALIDATED 1316069 REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit ENCODES a protein that exhibits 4 iron, 4 sulfur cluster binding (inferred); DNA binding (inferred); metal ion binding (inferred); INVOLVED IN DNA-dependent DNA replication (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN zeta DNA polymerase complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 6 6 6 q21 112366790 112550978 - 111620234 111804421 - 111299031 111483715 - 1580863;6480464;8554872 10102035;10575223;10660610;10856253;11115544;11485998;12459444;12717825;14574404;15189446;15342556;15964851;16094384;17081983;17148452;18247557;18622427;18779149;19074885;19237606;19289490;19564618;19661089;20028736;20054135;20164194;20453000;20466635;20811636;20953190;21455670;21886157;21890473;21926160;22028621;22286219;22303021;22349819;22547703;22859296;22869133;23128233;23303771;23456618;24449906;9618506;9635887;9925914 5980 F2Z3A1;H0Y5T4;O60673;Q9UG47 AB209256;ABBA01026089;ABBA01026090;ABBA01026091;AF004713;AF035537;AF058701;AF071798;AF078695;AF157476;AF179428;AF179429;AF303220;AK310949;AL080317;AL096744;AL136310;AL512325;AMYH02014304;AMYH02014305;AW450927;BC035823;BE645210;BP340028;CH471051;HX785974;NM_001286431;NM_001286432;NM_002912;XM_005267090;XM_005267091;XM_006715543;XM_006715544 AAB88486;AAC24009;AAC24357;AAC28460;AAD40184;AAF21598;AAG09402;AAG09403;AAH35823;AAI72423;BAD92493;CAB62529;EAW48292;EAW48293;EAW48294;NP_001273360;NP_001273361;NP_002903;O60673;XP_005267147;XP_005267148;XP_006715606;XP_006715607 Hs.232021 1686298;1698706;1700148;1700164;1714091;1785940;1789202;1790025;1790027;1790029;1790031;1790033;1790035;1790037;1790039;1790041;1790043;1790045;1790047;1790049;1790051;1790053;1790055;1790057;1790059;1790061;1790063;1790065;1790067;1790069;1790071;1794726;2110705;2119666;2158910;2184455;5017669 D6S1499;G65600;PMC35453P2;REV3L;REV3L__6883;RH102913;RH103687;RH103695;RH119655;RH36524;RH78825;SHGC-144121;STS-N32120;csnprev3l-pcr10-1;csnprev3l-pcr11-1;csnprev3l-pcr13-1;csnprev3l-pcr14-1;csnprev3l-pcr14-2;csnprev3l-pcr14-3;csnprev3l-pcr14-4;csnprev3l-pcr14-5;csnprev3l-pcr14-6;csnprev3l-pcr14-7;csnprev3l-pcr15-1;csnprev3l-pcr17-1;csnprev3l-pcr19-1;csnprev3l-pcr21-1;csnprev3l-pcr22-1;csnprev3l-pcr27-1;csnprev3l-pcr28-1;csnprev3l-pcr29-1;csnprev3l-pcr3-1;csnprev3l-pcr31-1;csnprev3l-pcr32-1;csnprev3l-pcr5-1;csnprev3l-pcr6-1;csnprev3l-pcr7-1 POLZ;REV3;hREV3 DNA polymerase zeta catalytic subunit;OTTHUMP00000017933;OTTHUMP00000017934;Polymerase, DNA, zeta (Rev-3, yeast, homolog of);Rev-3, yeast, homolog-like (polymerase, DNA, zeta);protein reversionless 3-like APPROVED protein-coding ENSG00000009413 HGNC:9968 04145 602776 VALIDATED 6904336 REXO1L10P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 10, pseudogene 8 8 q21.2 86758551 86758745 - 85746322 85746516 - 100288500 AC232323;NG_028288 pseudo HGNC:44433 INFERRED 6904335 REXO1L11P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 11, pseudogene 8 8 q21.2 86747543 86747737 + 85735314 85735508 + 100288470 AC232323;AC243966;NG_028287 pseudo HGNC:44434 INFERRED 735296 RET ret proto-oncogene This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008] 10 10 10 q11.2 39575663 39628954 + 43572517 43625799 + 43077069 43130351 + 1580863;2324925;2324932;2324930;2324943;2324926;2324920;6218979;6480464;6218981;6218984;6218972;6907045;7240710;8554872;8699517 10407114;10407179;12210101;16269310;16738479;18317952;18501516;18652760;19719936;9582449 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5979 C9JYL6;P07949;Q9BTX6 ABBA01049994;ABBA01049995;AC010864;AF032124;AF520975;AF520979;AF520983;AI472270;AJ243297;AJ844649;AK291807;AK294827;AMYH02022705;AMYH02022706;AW297789;BC003072;BC004257;BE261914;BM661773;BM703293;BQ070075;BX332519;BX376396;CH471160;CS542500;D00617;DA100452;DA911581;H24956;NG_007489;NM_020630;NM_020975;S80097;S80552;S83049;X15262;XM_006717936;Y12528;Y15743 AAB47046;AAB47047;AAB50647;AAB97168;AAD14423;AAH03072;AAH04257;AAM77275;AAM77279;AAM77283;BAF84496;BAG57939;CAA33333;CAA73131;CAA75753;CAB46483;CAM91187;EAW86576;EAW86577;EAW86578;EAW86579;EAW86580;EAW86581;EAW86582;EAW86583;EAW86584;NP_065681;NP_066124;P07949;XP_006717999 Hs.350321 1722065;1742211;1743177;1743515;1743517;1744881;1744917;1745009;1751649;1778256;1793586;1853652;2114912;5117516 D10S1566;G59921;GDB:193843;GDB:281473;GDB:342173;GDB:342177;GDB:574049;GDB:579598;GDB:580702;GDB:592843;PMC23476P2;RH66458;SHGC-105605;STS-T15350 CDHF12;CDHR16;HSCR1;MEN2A;MEN2B;MTC1;PTC;RET-ELE1;RET51 OTTHUMP00000019479;OTTHUMP00000216967;RET transforming sequence;cadherin family member 12;cadherin-related family member 16;hydroxyaryl-protein kinase;proto-oncogene c-Ret;proto-oncogene tyrosine-protein kinase receptor Ret;receptor tyrosine kinase;ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease) APPROVED protein-coding ENSG00000165731 HGNC:9967 01266 142623;155240;162300;164761;171300;171400;191830;209880 REVIEWED 1352761 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 11 11 11 q13 62747772 62757128 - 65421067 65430443 - 65653596 65662972 - 1580863;2298759;2292172;2298787;2298767;2298780;2298781;2298789;2298892;2298753;2298768;2298771;2298775;2298776;2298862;2298752;2298860;2298762;2302394;2298773;2298777;2298843;2298852;2298761;2298763;2298764;2298765;2298769;2298849;2298755;2298756;2298757;2298778;2298842;2293094;2298840;2298779;2298853;2298859;2298754;2298774;2298841;2298891;2302392;2298856;2298858;2298857;5147676;5135028;6480464;6484113;6907045;8552995 12663495;15570007;15712212;16006567;16278667;16287968;16288051;16322341;16728586;16840655;16850495;17013605;17020979;17098279;17250675;17290398;17375183;17626913;17727632;17918744;17934115;17950078;17950083;18032469;18073321;18077597;18087711;18089718;18188593;18198644;18241655;18267068;18288455;18314621;18356846;18469645;18500427;18534259;18543397;18590723;18621400;18623154;18633731;18636044;18637019;21643627;24690988;9047386;9918209 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5970 E9PI38;E9PJR1;E9PJZ9;E9PKH5;E9PKV4;E9PM47;E9PMD5;E9PN69;E9PNK5;E9PNV4;E9PQS6;E9PRX2;E9PSE4;H0YCB4;Q04206;Q2TAM5 ABBA01024108;AK303262;AK308020;AK308478;AMYH02024961;AP001362;AY455868;BC011603;BC014095;BC033522;BC069248;BC110830;BM916512;BU633061;CH471076;DA020095;L19067;M62399;NG_029971;NM_001145138;NM_001243984;NM_001243985;NM_021975;U33838;Z22948;Z22951 AAA20946;AAA36408;AAA92888;AAH11603;AAH14095;AAH33522;AAI10831;AAR13863;BAG64344;CAA80524;EAW74424;EAW74425;EAW74426;NP_001138610;NP_001230913;NP_001230914;NP_068810;Q04206 Hs.502875 1705504;1729089;2150148;2158379 NFKB3;RH44538;SHGC-83845;UniSTS:144339 MGC131774;NFKB3;p65 NF-kappa-B p65delta3;OTTHUMP00000233473;OTTHUMP00000233474;OTTHUMP00000233475;OTTHUMP00000233476;OTTHUMP00000233900;nuclear factor NF-kappa-B p65 subunit;nuclear factor of kappa light polypeptide gene enhancer in B-cells 3;transcription factor p65;v-rel avian reticuloendotheliosis viral oncogene homolog A (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (p65));v-rel reticuloendotheliosis viral oncogene homolog A;v-rel reticuloendotheliosis viral oncogene homolog A, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, p65 APPROVED protein-coding ENSG00000173039 HGNC:9955 01241 164014 REVIEWED 1602385 REXO1L2P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2 (pseudogene) INTERACTS WITH cadmium atom 8 8 8 q21.2 82559345 82560422 - 86787245 86788322 - 85775016 85776093 - 6480464 12477932;16421571 100288527 AC232323;BC112074;BC113453;NR_003594 Hs.535056 GOR pseudo HGNC:32239 VALIDATED 1602387 REXO1L3P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 3, pseudogene 8 8 8 q21.2 82559345 82561179 - 86556617 86568889 - 85644388 85656660 - 441359 AC093331;AMYH02018354;NG_009316 APPROVED pseudo HGNC:32240 INFERRED 2298830 REXO1L4P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 4, pseudogene 8 8 8 q21.2 82559344 82561179 - 86814747 86816774 - 85802518 85804545 - 653042 AC232323;AC243966;AF279874;NG_007182 APPROVED pseudo HGNC:32241 INFERRED 1602386 REXO1L5P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 5, pseudogene 8 8 8 q21.2 82559353 82561179 - 86816580 86828807 - 85804351 85816578 - 441361 AC232323;AF279874;NG_009317 APPROVED pseudo HGNC:32242 INFERRED 6904266 REXO1L12P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 12, pseudogene 8 8 8 q21.2 82559287 82560937 - 86726552 86728213 + 85714323 85715984 + 100289448 AC232323;NG_022425 pseudo HGNC:44435 INFERRED 1602384 REXO1L7P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 7, pseudogene 8 8 q21.2 83034686 83035203 - 86838856 86840931 - 441363 AF279874;NG_009610 APPROVED pseudo HGNC:32244 INFERRED 2303459 REXO1L8P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 8, pseudogene 8 8 8 q21.2 82559379 82561176 - 86554954 86556751 - 85642725 85644522 - 392242 ABBA01004005;AC093331;AMYH02018354;NG_009604 REXO1L8 APPROVED pseudo HGNC:35429 INFERRED 6904332 REXO1L9P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 9, pseudogene 8 8 86775084 86777113 - 85762855 85764884 - 100506246 AC232323;NG_009315 pseudo HGNC:44432 INFERRED 1603665 REXO2 RNA exonuclease 2 This gene encodes a 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011] 11 11 11 q23.2 111463042 111473937 + 114310108 114321001 + 114439386 114450279 + 6480464;6907045 10810093;10851236;11076863;11230166;11256614;12477932;14702039;15362935;15489334;15489336;15592455;16381901;18023590;18029348;20877624;21139048;21890473;21906983;21963094;23000965;23741365;24250222;24816145;8125298 25996 F5GX07;F5GYG5;F5H6P8;F5H784;F5H7P1;H0YF66;H0YG37;H0YG54;H0YG83;H0YGR4;H0YH58;Q9BTR4;Q9Y3B8 ABBA01039770;AF151872;AI249345;AK023498;AK223200;AK312042;AL110239;AMYH02025602;AP002373;BC003502;BC066947;BC105024;BC105026;BC107887;BC143701;CH471065;CR533500;DB471224;NM_015523 AAD34109;AAH03502;AAI05025;AAI05027;AAI07888;AAI43702;BAD96920;BAG34979;CAB53690;CAG38531;CAL37530;EAW67249;EAW67250;NP_056338;Q9Y3B8 Hs.677190;Hs.714231 1654742;1676594;1699336;1858191;2137354;2174059 C95618;RH103255;RH91947;STS-AA027991;STS-H98169;WI-18173 CGI-114;DKFZp566E144;MGC111570;REX2;RFN;SFN OTTHUMP00000238466;OTTHUMP00000238468;OTTHUMP00000238473;OTTHUMP00000238474;REX2, RNA exonuclease 2 homolog;RNA exonuclease 2 homolog;oligoribonuclease, mitochondrial;small fragment nuclease APPROVED protein-coding ENSG00000076043 HGNC:17851 06192 607149 REVIEWED 1314713 REXO4 REX4, RNA exonuclease 4 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH cisplatin; cytarabine; fonofos 9 9 9 q34.2 106821755 106833737 - 136271182 136283292 - 133406058 133418172 - 1580863;6480464;8554872 10908561;11076863;11230166;11256614;12429849;12477932;14702039;15164053;15489334;15489336;16196087;16381901;20098615;21139048;21602889;22586326;24816145;8889548;9325058 57109 B4DJ95;B4E331;Q9GZR2 ABBA01032458;AF273304;AF295774;AK000247;AK025493;AK295982;AK304547;AK310164;AK314333;AK315904;AL136894;AL158826;AL593848;AMYH02021830;BC009274;BC071691;BM984937;BX333016;CH471090;DC387839;NM_001279349;NM_001279350;NM_001279351;NM_020385;NR_103995;NR_103996 AAF98162;AAG02123;AAH09274;ABM82837;ABM86022;BAB15152;BAG36979;BAG58757;BAG65343;BAH14275;CAB66828;CAI12845;CAI12847;CAI12848;CAI12849;CAL37495;EAW88082;NP_001266278;NP_001266279;NP_001266280;NP_065118;Q9GZR2 Hs.438409 1689951 RH75089 REX4;XPMC2;XPMC2H;hPMC2 OTTHUMP00000022484;OTTHUMP00000022485;OTTHUMP00000022486;RNA exonuclease 4;XPMC2 prevents mitotic catastrophe 2 homolog;Xenopus prevents mitotic catastrophe 2 homolog;Xenopus prevents mitotic catatrophe 2 homolog;exonuclease XPMC2;prevents mitotic catastrophe 2 protein homolog protein-coding ENSG00000148300 HGNC:12820 04239 602930 VALIDATED 2305853 RESP18 regulated endocrine-specific protein 18 INVOLVED IN in utero embryonic development (inferred); FOUND IN extracellular region (inferred); Golgi apparatus (inferred); perikaryon (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q35 213962131 213967896 - 220192131 220197899 - 219327409 219333177 - 6480464 17951542;23319378;7988462 389075 A8MW94;Q5W5W9 ABBA01023842;AC114803;AF437883;AF439399;AMYH02005820;CH471063;DQ227570;NM_001007089 AAQ04480;AAQ04549;ABB13523;EAW70727;NP_001007090;Q5W5W9 Hs.290551 OTTHUMP00000196641;regulated endocrine-specific protein 18 homolog APPROVED protein-coding ENSG00000182698 HGNC:33762 17968 612721 VALIDATED 731874 RETSAT retinol saturase (all-trans-retinol 13,14-reductase) ENCODES a protein that exhibits all-trans-retinol 13,14-reductase activity (ortholog); oxidoreductase activity (ortholog); INVOLVED IN oxidation-reduction process (ortholog); retinol metabolic process (ortholog); PARTICIPATES IN retinol metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; endoplasmic reticulum membrane (ortholog); nuclear membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; actinomycin D; aflatoxin B1 2 2 2 p11.2 85397081 85409824 - 85569078 85581821 - 85341955 85354698 - 6480464;6907045;8554872 12477932;12975309;14702039;15358783;15489334;15815621;16303743;16344560;19139408;19946888;21139048;21832049;21890473;21906983;21963094;23000965;24250222;8125298 54884 H0YGU3;H7BZ16;H7BZ81;H7C3J0;Q6NUM9 ABBA01075746;ABBA01075747;AC062037;AC093162;AK000303;AK075261;AK225305;AK296522;AL833237;AMYH02004179;AY358568;BC011418;BC068517;BQ448420;CH471053;CQ783381;DA418052;DB001412;NM_017750 AAH11418;AAH68517;AAQ88931;AAY24096;AAY24126;ACE86502;ACE87183;BAA91069;BAC11505;BAG59153;CAF86585;EAW99530;EAW99531;EAW99532;EAW99533;NP_060220;Q6NUM9 Hs.440401 1769813;2116345 NIB1368;STS-AA004881 FLJ20296 OTTHUMP00000160675;OTTHUMP00000202928;OTTHUMP00000202929;PPAR-alpha-regulated and starvation-induced gene protein;all-trans-13,14-dihydroretinol saturase;all-trans-retinol 13,14-reductase protein-coding ENSG00000042445 HGNC:25991 07893 VALIDATED 1353491 RFC1 replication factor C (activator 1) 1, 145kDa This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011] 4 4 4 p14-p13 39726898 39805822 - 39289069 39368001 - 39287449 39366381 - 1580863;2306716;6480464;6484113;6907045;7246932;8554872 18157157;23545418 10353443;10783165;11857541;11877377;12045192;12171929;12192049;12220650;12393188;12400013;12411325;12477932;12509469;12673279;12707400;12753319;12766176;12855225;12947101;14561664;14632302;15044114;15059614;15060097;15161933;15198953;15225546;15231126;15302935;15457444;15489334;15635413;15655353;15677700;15769366;15772763;15799025;15952116;16019224;16086047;16115349;16141796;16284371;16289162;16343969;16344560;16438930;16449650;16471213;16522921;16565220;16596679;16712703;16845273;16964243;17081983;17148452;17180579;17181924;17208363;17325736;17410198;17439323;17449906;17545166;17702010;18022874;18023275;18060320;18204969;18245774;18258338;18273817;18406541;18447718;18458567;18528741;18607581;18629538;18799873;18823966;18842806;19019492;19020309;19056867;19093297;19105199;19159907;19172696;19208620;19223468;19237606;19274320;19307503;19427504;19454010;19461557;19471022;19493349;19533788;19548564;19706844;19714462;19729796;19774638;19776634;19827168;19858780;19913121;19956635;20081198;20141435;20211142;20226869;20237949;20310006;20335220;20466634;20468076;20472929;20511665;20522537;20544798;20574454;20628086;20634891;20661649;20713449;20948192;21045269;21113649;21139048;21252943;21681722;21878957;21881118;21890473;21900206;21906983;21907836;21963094;22168243;22586326;22729036;22868813;22914600;22939629;22952233;23022380;23254330;23336575;23430030;23857226;24097068;24332808;24333266;24816145;24958773;25015289;7914507;8114700;8248204;8512577;8692848;8861969;8954124;8999859;9092549;9111189;9121429;9235961;9351817;9443979;9488738;9563011;9649448;9705493;9822671 5981 D6RAD2;E0CX09;H0Y8U4;H0Y9P8;P35251 ABBA01004121;AC023135;AC093855;AF040250;AJ564999;AK291612;AMYH02009049;AMYH02009050;AMYH02009051;AMYH02009052;AY600371;BC010387;BC035297;BC051751;BC051786;CH471069;DA336360;L23320;L24783;NM_001204747;NM_002913;X69821 AAA16121;AAB99788;AAH35297;AAH51751;AAH51786;AAS94325;ABZ92532;BAF84301;CAA49475;CAD92367;EAW92922;EAW92923;EAW92924;NP_001191676;NP_002904;P35251 Hs.507475 1669905;1725791;1735406;1770336;1788562;1788564;1788566;1788568;1788570;1788572;1788574;1788576;1847524;1851387;2121367;2125526;2158610;2158920;2184232 D4S2578E;D4S2821;D4S335;G34472;G62134;G67564;G67565;G67566;G67567;G67568;G67569;G67570;G67571;SHGC-30256;SHGC-51647;SHGC-67924;SHGC-67941;STS-L23320;STS-Z22642 A1;MGC51786;MHCBFB;PO-GA;RECC1;RFC;RFC140 A1 140 kDa subunit;DNA-binding protein PO-GA;MHC binding factor, beta;OTTHUMP00000125201;OTTHUMP00000218411;RF-C 140 kDa subunit;activator 1 140 kDa subunit;activator 1 large subunit;activator 1 subunit 1;replication factor C 140 kDa subunit;replication factor C large subunit;replication factor C subunit 1;replication factor C1 APPROVED protein-coding ENSG00000035928 HGNC:9969 00024 102579 REVIEWED 7174890 RFC3P1 replication factor C (activator 1) 3, 38kDa pseudogene 1 3 3 3 p22.3 36153461 36154148 - 36211253 36211940 - 36169761 36170448 - 100131711 ABBA01024874;AC105901;AMYH02006545;NG_022200 pseudo HGNC:44531 INFERRED 1348076 RFC2 replication factor C (activator 1) 2, 40kDa This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013] 7 7 7 q11.23 69125398 69148304 - 73645832 73668788 - 74231502 74254458 - 1580863;2306716;6480464;6907045;7246932 18157157;23545418 10051561;10783165;11003705;11907025;12036885;12171929;12192049;12477932;12766176;12791985;12853948;12930902;1313560;14605214;15096576;15489334;15635413;15655353;16196087;16413017;16582606;17148452;17314511;17643375;18245774;18247557;18499658;19237606;19454010;19615732;19661379;20226869;20522537;20574454;21139048;21145461;21549307;21853274;21890473;21906983;21963094;22505724;22863883;22939629;22990118;23443559;24332808;24816145;24958773;25027693;7774928;8093561;8651315;8692848;8812460;9092549;9111189;9121429;9228079;9488738;9751713;9822671 5982 F8WC37;F8WDC9;H7C596;H7C5A0;H7C5G4;H7C5P1;H7C5P4;H7C5Q7;H7C5S7;P35250;Q75MT5 AB451243;AB451368;ABBA01063902;ABBA01063903;AC005081;AF045555;AF483622;AL560344;AMYH02016042;AMYH02016043;AW450467;BC002813;BM563468;BM810551;BQ070526;BQ674131;BT007058;CH471200;HY046046;HY056452;M87338;NG_008102;NM_001278791;NM_001278792;NM_001278793;NM_002914;NM_181471;XM_006716080 AAB09786;AAC04860;AAH02813;AAL82503;AAP22334;AAP22335;AAP35707;BAG70057;BAG70182;EAW69605;EAW69606;EAW69607;EAW69608;NP_001265720;NP_001265721;NP_001265722;NP_002905;NP_852136;P35250;XP_006716143 Hs.647062 1696702;1771096;1788146;1788148;1788150;1788152;1788154;1788156;1857328;2123106;2150993;5022588 D5S1597E;G67235;G67236;G67237;G67238;G67239;G67240;GDB:1317582;RFC2;SHGC-32392;SHGC-83052;WI-22097 A1;MGC3665;RFC40 A1 40 kDa subunit;OTTHUMP00000160645;OTTHUMP00000160646;RF-C 40 kDa subunit;activator 1 40 kDa subunit;activator 1 subunit 2;replication factor C 2;replication factor C subunit 2 APPROVED protein-coding ENSG00000049541 HGNC:9970 02675 600404 REVIEWED 1606670 REXO1L1P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1, pseudogene ENCODES a protein that exhibits exonuclease activity (inferred); nucleic acid binding (inferred); INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); PARTICIPATES IN ribosome biogenesis pathway; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (+)-catechin; cadmium atom; zinc atom 8 8 q21.2 86568533 86575726 - 85656304 85663033 - 6907045;6480464 11472404;12477932;1701012;17699833;9846365 254958 Q8IX06 AC093331;AF023669;AF495523;AMYH02018354;XR_428372;XR_432331 AAC98149;AAI67782;AAN77012;Q8IX06 Hs.373854 5016470;5092130;5112704;5114839;5122671 D6S1069;D8S1502;GDB:386789;SHGC-83658;SHGC-84602 GOR;REXO1L1 GOR antigen;OTTHUMP00000227996;RNA exonuclease 1 homolog-like 1;antigen GOR homolog;exonuclease GOR APPROVED pseudo HGNC:24660 17049 MODEL 8655459 RFC5P1 replication factor C (activator 1) 5, 36.5kDa pseudogene 1 9 9 9 50264760 50265374 + 79687594 79688208 + 77072678 77073292 + 100421549 ABBA01033920;AL161789;AMYH02021030;NG_023928 pseudo HGNC:50450 INFERRED 5130649 RFESDP1 Rieske (Fe-S) domain containing pseudogene 1 13 13 13 q12.12 4486492 4487019 + 23422889 23425579 + 22848750 22851440 + 100129167 ABBA01068626;AL162853;AMYH02027684;NG_028978 2156086 RH47946 KIAA0263 pseudo HGNC:39420 INFERRED 1315670 RFC3 replication factor C (activator 1) 3, 38kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 13 13 13 q13.2 15458790 15607255 + 34392206 34540695 + 33818069 33966558 + 1580863;2306716;6480464;6907045;7246932;8554872 18157157;23545418 10051561;10884395;11572977;11907025;12171929;12192049;12477932;12766176;12791985;12930902;14605214;14657243;14702039;15489334;15635413;16079077;16196087;16344560;17314511;17456004;17643375;18245774;18457437;19237606;19615732;19913121;20061627;20226869;20379614;20573375;20574454;20603015;20628086;21139048;21549307;21890473;21900206;21906983;21907836;21963094;21988832;22145905;22242598;22268729;22328562;22505724;22863883;22939629;22949521;23251661;23383273;23443559;24332808;24816145;24958773;7774928;8125298;8441605;8692848;9092549;9111189;9121429;9228079;9488738;9822671 5983 P40938 AA447424;ABBA01010162;ABBA01010163;ABBA01010164;AF484446;AI221523;AK128459;AK222572;AK296527;AK312544;AL139081;AL160394;AL161891;AL596753;AMYH02027840;AMYH02027841;BC000149;BQ022288;BT019668;BU618419;CH471075;CX786577;DA943219;L07541;NM_002915;NM_181558 AAB07268;AAH00149;AAL82505;AAV38474;ABM81881;ABM85044;BAD96292;BAG59158;EAX08537;EAX08538;NP_002906;NP_853536;P40938 Hs.115474 1648240;1679794;1689286;1754119;1760789;1788158;1788160;1788162;5113439 D13S1680;G67285;G67286;G67287;RH91486;RH91962;RH93719;SHGC-132153;SHGC-144308 MGC5276;RFC38 A1 38 kDa subunit;OTTHUMP00000018237;RF-C 38 kDa subunit;RFC, 38 kD subunit;activator 1 38 kDa subunit;activator 1 subunit 3;replication factor C 38 kDa subunit;replication factor C subunit 3 APPROVED protein-coding ENSG00000133119 HGNC:9971 02676 600405 REVIEWED 3497906 REXO1L6P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 6 (pseudogene) 8 8 8 q21.2 82559345 82560422 - 86839094 86840171 - 85826865 85827942 - 12477932 441362 AC232323;NG_016769 pseudo HGNC:32243 INFERRED 1605590 RFFL ring finger and FYVE-like domain containing E3 ubiquitin protein ligase ENCODES a protein that exhibits p53 binding; protease binding; protein kinase binding; INVOLVED IN negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; negative regulation of signal transduction by p53 class mediator; PARTICIPATES IN tumor necrosis factor mediated signaling pathway; FOUND IN cytoplasm; endosome membrane; membrane; INTERACTS WITH 3-methylcholanthrene; benzo[a]pyrene; cadmium atom 17 17 17 q12 30246327 30326489 - 33336131 33416348 - 35009112 35089329 - 6480464;6484113 12477932;14702039;15069192;15229288;15302935;15489334;15576038;17121812;17207965;18029348;18382127;18450452;19305408;19690564;19773279;19946888;20677014;21308745;21963094;22626734;23871895;24114843 117584 C9JE27;J3KSI3;J3KSU7;J3QR17;Q8WZ73 ABBA01011223;ABBA01011224;ABBA01011225;AC004223;AF434816;AK093112;AK308689;AMYH02033340;AMYH02033341;AMYH02033342;AY098935;BC015681;BC028424;BG771625;CH471147;CK001659;CR933651;DB459719;NM_001017368;NR_037713 AAH15681;AAH28424;AAL30771;AAM29181;ADQ31694;BAC04059;CAI45952;EAW80172;EAW80173;EAW80176;EAW80177;EAW80178;NP_001017368;Q8WZ73 Hs.13680 1711950;1730175;1739649;1767179;1851217;1853013;2117052;2140474;2145801;2145803;2156044;5015619;5037552;7183994;7184673 A008P23;A008R31;D11S3114;D17S1708;D17S1725E;D17S2135;D17S822E;D8S2279;G49586;RH69286;SHGC-32545;WI-15077;WI-16693 CARP-2;CARP2;FRING;RNF189;RNF34L E3 ubiquitin-protein ligase rififylin;FYVE-RING finger protein SAKURA;OTTHUMP00000163857;OTTHUMP00000163860;RIFIFYLIN;RING finger and FYVE-like domain-containing protein 1;RING finger protein 189;RING finger protein 34-like;caspase regulator CARP2;caspases-8 and -10-associated RING finger protein 2;ring finger and FYVE-like domain containing 1 APPROVED protein-coding ENSG00000092871 HGNC:24821 11489 609735 VALIDATED 1605818 RFESD Rieske (Fe-S) domain containing ENCODES a protein that exhibits 2 iron, 2 sulfur cluster binding (inferred); metal ion binding (inferred); oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; ethyl methanesulfonate 5 5 5 q15 90860909 90871275 + 94982471 94992849 + 95646777 95657145 + 6480464;8554872 12477932;16461635 317671 D6RBY0;D6RJG8;Q8TAC1 ABBA01069249;AC008547;AMYH02011822;BC024023;BC035110;BC048979;BI551847;BM263054;BX114571;CH471084;DN914641;NM_001131065;NM_001131066;NM_173362 AAH24023;AAH35110;AAH48979;EAW96042;EAW96043;EAW96044;EAW96045;NP_001124537;NP_001124538;NP_775498;Q8TAC1 Hs.399758 1673135;2156086 RH47946;WI-14814 OTTHUMP00000149980;OTTHUMP00000149981;OTTHUMP00000222475;Rieske domain-containing protein protein-coding ENSG00000175449 HGNC:29587 14164 VALIDATED 4889059 RFKP2 riboflavin kinase pseudogene 2 3 3 3 q13.2 110146826 110149599 - 111747750 111750523 - 112028903 112031676 - 100132753 ABBA01061669;AC024887;AMYH02007436;NG_016114 pseudo HGNC:39182 INFERRED 1343182 RFP2OS ret finger protein 2 opposite strand 448961 AF529010 HGNC:18457 1319540 RFC5 replication factor C (activator 1) 5, 36.5kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 36 kD subunit. This subunit can interact with the C-terminal region of PCNA. It forms a core complex with the 38 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9. [provided by RefSeq, May 2011] 12 12 12 q24.23 118085448 118100501 + 118454506 118470044 + 118016701 118032239 + 1580863;2306716;6480464;6907045;7246932 18157157;23545418 10051561;11572977;11907025;12171929;12192049;12237462;12477932;12766176;12791985;12930902;14605214;14702039;15489334;15635413;16169070;16189514;16196087;16344560;17079134;17207965;17314511;17353931;17643375;18245774;18247557;19237606;20221901;20226869;20522537;20574454;20800603;20826785;21139048;21145461;21415862;21549307;21906983;21907836;22053931;22268729;22505724;22678362;22939629;22990118;23251661;23383273;24332808;24457600;24816145;24958773;25027693;7774928;8441605;8692848;8999859;9092549;9111189;9121429;9228079;9396813;9488738;9751713;9822671 5985 C9JH72;E9PEP3;F5H0U6;F5H304;F5H5S0;P40937;Q59GW7 AB208992;ABBA01020044;ABBA01020045;ABBA01020046;AC131159;AI567945;AK094575;AK290685;AK291107;AMYH02027325;AU121576;AY254323;BC001866;BC013961;BC020440;BM153733;CR407651;DB270923;L07540;NM_001130112;NM_001206801;NM_007370;NM_181578 AAB09784;AAH01866;AAH13961;AAO63493;ADQ32284;BAD92229;BAF83374;BAF83796;BAG52890;CAG28579;NP_001123584;NP_001193730;NP_031396;NP_853556;P40937 Hs.731908 1667938;1685047;1746943;1854797;2122146;2128858;2180740 A007E48;D12S1213E;D12S1776;D12S1874;G64848;RH65239;WI-13177 MGC1155;RFC36 A1 36 kDa subunit;OTTHUMP00000209892;OTTHUMP00000209893;RF-C 36 kDa subunit;RFC, 36.5 kD subunit;activator 1 36 kDa subunit;activator 1 subunit 5;replication factor C 36 kDa subunit;replication factor C subunit 5;replication factor C, 36-kDa subunit APPROVED protein-coding ENSG00000111445 HGNC:9973 02677 600407 REVIEWED 1345692 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ENCODES a protein that exhibits metal ion binding (inferred); O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (inferred); transferase activity, transferring glycosyl groups (inferred); INVOLVED IN cell differentiation (inferred); metabolic process (inferred); nervous system development (inferred); PARTICIPATES IN Notch signaling pathway; O-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH ethyl methanesulfonate; quercetin; thapsigargin 17 17 17 q25 76599470 76614605 - 80005778 80009650 - 82047902 82051774 - 1302739;1580863;2302204;6480464;6907045;8554872 17761886;9187150 10341080;11165380;12477932;14702039;8619474;9110174 5986 F5H3H7;J3QLN0;Q8N9R1;Q9Y644 ABBA01019661;AC135056;AF038196;AF108139;AK094016;AK293568;AK302068;AMYH02034148;BC014495;BC035781;BC050399;BC069034;BC080181;BC146805;BF435018;CH471099;NM_002917;U94353 AAC51359;AAD34321;AAI46806;BAC04269;BAG57039;BAG63458;EAW89735;EAW89736;EAW89737;EAW89738;EAW89739;EAW89740;NP_002908;Q9Y644 Hs.569700 1675431;1680543;1772425;1791496 PMC111189P1;RH35971;RH79807;RH98836 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase;beta-1,3-N-acetylglucosaminyltransferase radical fringe;radical fringe homolog;radical fringe homolog (drosophila) protein-coding ENSG00000169733 HGNC:9974 09093 602578 VALIDATED 1348433 RFPL1 ret finger protein-like 1 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; calcitriol; testosterone 22 22 22 q12.2 13634421 13638293 + 29834572 29838444 + 29438583 29442455 + 1580863;6480464;8554872 10508838;12477932;15461802;18656177;20009918;20725088 5988 O75677 ABBA01122870;AC000041;AJ010228;AJ010229;AMYH02038199;BC104768;CH471095;CR456562;NM_021026 ABZ92533;CAA09043;CAA09044;CAG30448;CAK54592;CAK54891;EAW59801;EAW59802;NP_066306;O75677 Hs.648249 1678603;1808096;1820044;1820394;1858423;2011972;2011974;2011982;2013290;2013292;2013314;2098424;2219626;5112886 ECD05026;ECD11094;ECD11272;REN76914;REN76915;REN76916;REN76920;REN77581;REN77582;REN77593;RFPL1__5486;RH46208;RH98366;stSG602599 MGC132428;RNF78 OTTHUMP00000197722;RING finger protein 78 protein-coding ENSG00000128250 HGNC:9977 16182 605968 VALIDATED 1345884 RFPL1S RFPL1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; valproic acid 22 22 22 q12 13632852 13637967 - 29833004 29838118 - 29437015 29442129 - 6480464;8554872 10508838;12477932;15461802;16344560 10740 ABBA01122870;AC000041;AJ010230;AMYH02038199;AW157535;BC027468;CR456561;DA509757;NR_002727 Hs.167750 1678603;1800734;1808096;1820044;1820394;1858423;2011940;2011972;2011974;2011982;2013290;2013292;2013314;2098422;2098424;2219626;5015961;5017078;5022200;5096919;5112886 D15S1477;ECD01228;ECD05026;ECD05489;ECD11094;ECD11272;L18426;REN76898;REN76914;REN76915;REN76916;REN76920;REN77580;REN77581;REN77582;REN77593;RFPL1__5486;RH46208;RH98366;stSG602598;stSG602599 NCRNA00006;RFPL1-AS;RFPL1-AS1;RFPL1AS APPROVED ncrna HGNC:9978 605972 VALIDATED 4888992 RFKP1 riboflavin kinase pseudogene 1 1 1 1 q 214242288 214243716 - 240985542 240986970 - 240822242 240823670 - 100313962 ABBA01033239;AL365184;AMYH02003029;NG_016107 pseudo HGNC:39181 INFERRED 1313443 RFK riboflavin kinase Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009] 9 9 9 q21.13 49575160 49584171 - 79000433 79009444 - 76385517 76394528 - 737633;1580863;6480464;6907045 12477932 12623014;14580199;14702039;15489334;16169070;16344560;19010793;19641494;20877624;21139048;21308351;22158615;8619474;9110174 55312 B2RDZ2;H7C4G0;Q969G6 ABBA01033906;AF038172;AK002011;AK123933;AK307079;AK315734;AL391868;AMYH02021022;BC007069;BF979572;CH471089;DA154523;DB499473;DB531307;NM_018339 AAH07069;BAA92033;BAG38089;EAW62578;EAW62579;NP_060809;Q969G6 Hs.37558 1663885;1856591;1856593;5015879;5015961;5016478;5022450;5115081 A006D45;D10S275;D15S1477;EST209511;G20734;GDB:314949;GDB:434012;WI-16973 FLJ11149;RIFK;RP11-422N19.2 0610038L10Rik;ATP:riboflavin 5'-phosphotransferase;OTTHUMP00000021501;OTTHUMP00000216103;flavokinase APPROVED protein-coding ENSG00000135002 HGNC:30324 17969 613010 VALIDATED 1351885 RFPL3 ret finger protein-like 3 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH hydroquinone O-beta-D-glucopyranoside; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 22 22 22 q12.3 16553044 16559320 + 32750872 32757148 + 32354885 32361161 + 1580863;6480464;8554872 10508838;10591208;12477932;14702039;15461802;18656177 10738 O75679 ABBA01055375;AJ010232;AK097738;AL021937;AMYH02038266;BC031689;BC069753;CH471095;CR456564;NM_001098535;NM_006604 AAH31689;AAH69753;ABZ92295;ACE86625;ACE87306;CAA09046;CAG30450;CAK54595;CAK54894;EAW60019;NP_001092005;NP_006595;O75679 Hs.558455 1678603;1806752;1808096;1811064;1812858;1814418;1828592;1837946;2011950;2011960;2011966;2011968;2012024;2013250;2013252;2013254;2013256;2013258;2013260;2013262;2013264;2013266;2013268;2013270;2013272;2013274;2013276;2013278;2013280;2013282;2013284;2013286;2013288;2013290;2013292;2013294;2013296;2013298;2013300;2013302;2013304;2013306;2013308;2013310;2013312;2013314;2013316;2013318;2013320;2098420;2098434;2098632;2098634;2098636;2098638;2098640;2098642;5017078;5112886 ECD04334;ECD05026;ECD06530;ECD07442;ECD08238;ECD15423;ECD20144;REN76903;REN76908;REN76911;REN76912;REN76914;REN76941;REN77560;REN77561;REN77562;REN77563;REN77564;REN77565;REN77566;REN77567;REN77568;REN77569;REN77570;REN77571;REN77572;REN77573;REN77574;REN77575;REN77576;REN77577;REN77578;REN77579;REN77580;REN77581;REN77582;REN77583;REN77584;REN77585;REN77586;REN77587;REN77588;REN77589;REN77590;REN77591;REN77592;REN77593;REN77594;REN77595;REN77596;RH98366;stSG602597;stSG602604;stSG602710;stSG602711;stSG602712;stSG602713;stSG602714;stSG602715 OTTHUMP00000028632;OTTHUMP00000165867 protein-coding ENSG00000128276 HGNC:9980 09339 605970 VALIDATED 1342537 RFPL2 ret finger protein-like 2 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; hydroquinone O-beta-D-glucopyranoside; trichostatin A 22 22 22 q12.3 16388684 16402982 - 32586422 32603223 - 32190435 32207236 - 1580863;6480464;8554872 10508838;10591208;12477932;14702039;15461802;15489334;18656177;24250222 10739 O75678;Q6NSX6 ABBA01055369;AJ010231;AK055999;AL008723;AMYH02038264;BC051910;BC069737;BC069827;CH471095;CR456563;DB549304;NM_001098527;NM_001159545;NM_001159546;NM_006605;XM_005261310 AAH51910;AAH69737;AAH69827;ABZ92534;CAA09045;CAG30449;CAK54594;CAK54893;EAW60009;EAW60010;EAW60011;EAW60012;EAW60013;NP_001091997;NP_001153017;NP_001153018;NP_006596;O75678;XP_005261367 Hs.157427 1808436;1808726;1808942;1809142;1811522;1817064;1820044;1820394;1820592;1821260;1824782;1826066;1827126;1837946;2011942;2011944;2011946;2011948;2011950;2011952;2011954;2011956;2011958;2011960;2011962;2011964;2011966;2011968;2011970;2011972;2011974;2011976;2011978;2011980;2011982;2011984;2011986;2011988;2011990;2011992;2011994;2011996;2011998;2012000;2012002;2012004;2012006;2012008;2012010;2012012;2012014;2012016;2012018;2012020;2012022;2012024;2012026;2012028;2012030;2012032;2012034;2012036;2012038;2012040;2012042;2012044;2012046;2012048;2012050;2012052;2012054;2012056;2012058;2012060;2012062;2012064;2012066;2012068;2012070;2012072;2012074;2012076;2012078;2012080;2013258;2013274;2013282;2013286;2013310;2098418;2098420;2098424;2098438;2219626;5112886 ECD05199;ECD05345;ECD05454;ECD05560;ECD06761;ECD09581;ECD11094;ECD11272;ECD11371;ECD11708;ECD13489;ECD14142;ECD14678;ECD20144;REN76899;REN76900;REN76901;REN76902;REN76903;REN76904;REN76905;REN76906;REN76907;REN76908;REN76909;REN76910;REN76911;REN76912;REN76913;REN76914;REN76915;REN76916;REN76917;REN76918;REN76919;REN76920;REN76921;REN76922;REN76923;REN76924;REN76925;REN76926;REN76927;REN76928;REN76929;REN76930;REN76931;REN76932;REN76933;REN76934;REN76935;REN76936;REN76937;REN76938;REN76939;REN76940;REN76941;REN76942;REN76943;REN76944;REN76945;REN76946;REN76947;REN76948;REN76949;REN76950;REN76951;REN76952;REN76953;REN76954;REN76955;REN76956;REN76957;REN76958;REN76959;REN76960;REN76961;REN76962;REN76963;REN76964;REN76965;REN76966;REN76967;REN76968;REN76969;REN77564;REN77572;REN77576;REN77578;REN77591;RFPL1__5486;stSG602596;stSG602597;stSG602599;stSG602606 RNF79 OTTHUMP00000028675;RING finger protein 79 protein-coding ENSG00000128253 HGNC:9979 09338 605969 VALIDATED 1315491 REV1 REV1, polymerase (DNA directed) This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. Two alternatively spliced transcript variants that encode different proteins have been found. [provided by RefSeq, Jul 2008] 2 2 2 q11.1-q11.2 94221622 94311168 - 100016938 100106480 - 99400475 99490030 - 1580863;6480464 10094488;10536157;10760286;10906324;11278384;11485998;12477932;12529368;12930947;14657033;14702039;15189446;15380106;15609317;15815621;16495473;16803901;16824193;18270339;18470628;18498753;18591245;18975621;19074885;19157994;19170759;19390575;19464298;19628463;19661089;19789190;20028736;20059978;20164194;20453000;20554254;20691646;20888339;21690293;21926160;21926972;22266823;22303021;22623531;22691049;22761336;22828282;22859296;22869133;23220741;23254330;23287467;23761444;23901102;24038355;24366879;24409475;8889548 51455 C9JPS2;F8WCR0;H7C263;Q9UBZ9 AB047646;ABBA01073944;ABBA01073945;ABBA01073946;AC018690;AF151538;AF206019;AF357886;AJ131720;AK002087;AK025176;AK307719;AMYH02004401;AMYH02004402;AMYH02004403;BC037734;BC130411;BM683065;CH471127;KF510741;NM_001037872;NM_016316;XM_005263968;XM_006712592;XM_006712593;XR_244891;XR_427091;XR_427092 AAF06731;AAF18986;AAH37734;AAI30412;AAK43708;AAY24314;BAA92079;BAB21441;CAB38231;EAX01860;EAX01861;EAX01862;EAX01863;NP_001032961;NP_057400;Q9UBZ9;XP_005264025;XP_006712655;XP_006712656 Hs.443077 1653808;1662660;1666151;1682806;1684307;1698480;1789999;1790001;1790003;1790005;1790007;1790009;1790011;1790013;1790015;1790017;1790019;1790021;1790023;2109751;2126311;5111463 REV1L_9719;RH102789;RH36074;RH36408;RH65793;RH92204;RH98876;SHGC-56859;STS-W87784;csnprev1l-pcr11-1;csnprev1l-pcr13-1;csnprev1l-pcr14-1;csnprev1l-pcr16-1;csnprev1l-pcr17-1;csnprev1l-pcr18-1;csnprev1l-pcr19-1;csnprev1l-pcr20-1;csnprev1l-pcr23-1;csnprev1l-pcr3-1;csnprev1l-pcr5-1;csnprev1l-pcr6-1;csnprev1l-pcr7-1 AIBP80;FLJ21523;MGC163283;MGC26225;REV1L DNA repair protein REV1;OTTHUMP00000161215;OTTHUMP00000161216;REV1 homolog;REV1- like;alpha integrin-binding protein 80;rev1-like (yeast);rev1-like terminal deoxycytidyl transferase APPROVED protein-coding ENSG00000135945 HGNC:14060 16202 606134 REVIEWED 7242544 RFPL4AL1 ret finger protein-like 4A-like 1 ENCODES a protein that exhibits zinc ion binding (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 q13.42 56283171 56284545 + 55771805 55773179 + 6480464 23000965 729974 F8VTS6 AC008749;AMYH02036477;NM_001277397 F8VTS6;NP_001264326 2150316 D1S2440 ret finger protein-like 4A-like protein 1 protein-coding HGNC:45147 INFERRED 7241230 RFPL4AP2 ret finger protein-like 4A pseudogene 2 8 8 8 65406485 65407373 + 69413143 69414031 + 68500908 68501796 + 100420059 ABBA01041912;AC090096;AMYH02018149;NG_026110 pseudo HGNC:45145 INFERRED 1347346 RFPL3S RFPL3 antisense ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper atom; copper(0); quercetin 22 22 22 q12.3 16558065 16569235 - 32755893 32767063 - 32359906 32371264 - 6480464;8554872 10508838;12477932;15461802 10737 A2A280;J3QQV8;P0C7P2 ABBA01055375;AJ010233;AL021937;AMYH02038266;BC031635;BC042824;BC066983;BC090926;CR456565;HY013491;NR_001450;NR_002596;NR_104232 CAG30451;CAK54596;CAK54895;P0C7P2 Hs.274285 1678603;1799436;1800492;1808096;1814418;1822226;1822704;1824008;1824396;1824398;1827572;1828762;1834484;1836184;2011932;2011938;2011950;2013304;2013306;2013308;2013310;2013312;2013314;2013316;2013318;2013320;2013322;2013324;2013326;2013328;2013330;2013332;2013334;2013336;2013338;2013340;2013342;2013344;2013346;2013348;2013350;2013352;2013354;2013356;2013358;2013360;2013362;2013364;2013366;2013368;2013370;2013372;2013374;2013376;2013378;2013380;2013382;2013384;2013386;2013388;2013390;2013392;2013394;2013396;2013398;2013400;2013402;2013404;2013406;2013408;2013410;2013412;2098416;2098642;2098644;2098646;2098648;2098650;2098652;2098654;2098656;2098658;2098660 ECD00569;ECD01106;ECD05026;ECD08238;ECD12199;ECD12440;ECD13100;ECD13296;ECD13297;ECD14903;ECD15508;ECD18390;ECD19253;REN76894;REN76897;REN76903;REN77588;REN77589;REN77590;REN77591;REN77592;REN77593;REN77594;REN77595;REN77596;REN77597;REN77598;REN77599;REN77600;REN77601;REN77602;REN77603;REN77604;REN77605;REN77606;REN77607;REN77608;REN77609;REN77610;REN77611;REN77612;REN77613;REN77614;REN77615;REN77616;REN77617;REN77618;REN77619;REN77620;REN77621;REN77622;REN77623;REN77624;REN77625;REN77626;REN77627;REN77628;REN77629;REN77630;REN77631;REN77632;REN77633;REN77634;REN77635;REN77636;REN77637;REN77638;REN77639;REN77640;REN77641;REN77642;RH98366;stSG602595;stSG602715;stSG602716;stSG602717;stSG602718;stSG602719;stSG602720;stSG602721;stSG602722;stSG602723;stSG602724 NCRNA00005;RFPL3-AS;RFPL3-AS1;RFPL3ANT;RFPL3AS;dJ149A16.3 APPROVED ncrna ENSG00000205853 HGNC:9981 605971 VALIDATED 7241227 RFPL4AP4 ret finger protein-like 4A pseudogene 4 4 4 4 146158706 146159534 - 148837687 148838515 - 147916536 147917364 - 100420036 ABBA01070061;AC115621;AMYH02010279;NG_025174 2125463;2177763 G34307;SHGC4-1567 pseudo HGNC:45140 INFERRED 7256308 RFPL4AP1 ret finger protein-like 4A pseudogene 1 19 19 19 q13.42 53334087 53335480 + 56288930 56290323 + 55777564 55778957 + 646663 ABBA01020854;AC008749;AMYH02036477;NG_006134 2150316 D1S2440 pseudo HGNC:45138 INFERRED 7241228 RFPL4AP5 ret finger protein-like 4A pseudogene 5 8 8 8 123369193 123370096 - 127186430 127187333 - 126174186 126175089 - 100420058 ABBA01037925;AC090573;AMYH02018741;NG_026072 pseudo HGNC:45144 INFERRED 7251452 RFPL4AP6 ret finger protein-like 4A pseudogene 6 22 22 22 q12.2 13629178 13630793 + 29829330 29830945 + 29433341 29434956 + 100130079 ABBA01122870;AC000041;AMYH02038199;NG_022877 1821260;2011990;2011992 ECD11708;REN76924;REN76925 pseudo HGNC:45142 INFERRED 7241229 RFPL4AP7 ret finger protein-like 4A pseudogene 7 8 8 8 46252259 46253001 - 50265031 50265768 - 49352472 49353209 - 100420055 ABBA01041663;AC092698;AMYH02017949;NG_026025 pseudo HGNC:45143 INFERRED 1606355 RFPL4B ret finger protein-like 4B ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred) 6 6 6 q21 113409815 113413781 + 112668532 112672498 + 112347330 112351296 + 8554872 12477932;14702039;21139048 442247 Q6ZWI9 ABBA01026077;AK122906;AL365214;AMYH02014311;BC132796;BC132798;NM_001013734 AAI32797;AAI32799;ADR82895;BAC85513;NP_001013756;Q6ZWI9 Hs.448264 RNF211;RP11-506B6.6 OTTHUMP00000218237;RING finger protein 211 protein-coding ENSG00000251258 HGNC:33264 18472 VALIDATED 1342907 RFT1 RFT1 homolog (S. cerevisiae) This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008] 3 3 3 p21.1 53089550 53131500 - 53122499 53164480 - 53085633 53130464 - 737633;1580863;6480464;6907045;7240710;8554872;8699517 12477932 11807558;18313027;19856127;19953087;20301507;20379614;21906983;21926972;21963094;22610502;23111317;23563607;23974872 91869 B5MDE0;C9JP01;Q96AA3 ABBA01024492;ABBA01024493;AC096887;AJ318099;AK098811;AL713685;AMYH02006823;BC006846;BC043595;BC101247;BC101248;BC101249;BC101250;BC113058;BC113059;CH471055;NG_009203;NM_052859;XM_005265537;XM_006713384 AAH06846;AAH43595;BAC05420;CAC69544;EAW65276;EAW65277;EAW65278;NP_443091;Q96AA3;XP_005265594;XP_006713447 Hs.631910 2187769;5015810;5015861;5016478;5017227;5022651;5037552;5493571;7185938 D10S16;D11S2921;D8S2279;G38154;G69469;GDB:182516;GDB:434012;UniSTS:487290 CDG1N;DKFZp667J092;FLJ25945 OTTHUMP00000082637;OTTHUMP00000082638;OTTHUMP00000214030;RFT1, requiring fifty three 1 homolog;congenital disorder of glycosylation 1N;protein RFT1 homolog;putative endoplasmic reticulum multispan transmembrane protein APPROVED protein-coding ENSG00000163933 HGNC:30220 15239 611908;612015 REVIEWED 1316421 RFTN2 raftlin family member 2 INVOLVED IN dsRNA transport (inferred); response to exogenous dsRNA (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH levonorgestrel; trichostatin A; valproic acid 2 2 2 q33.1 192191399 192296503 - 198435524 198540774 - 197570800 197676050 - 6480464 12477932;14702039;15489334;15815621;23128233 130132 C9J6C2;H7BZ31;Q52LD8 ABBA01062486;ABBA01062487;ABBA01062488;AC020550;AC114800;AK055136;AMYH02005522;BC039690;BC093966;BC111069;BC113361;BX647618;CH471063;NM_144629;XM_005246294 AAH93966;AAI11070;AAI13362;AAX93148;AAY24079;ADR83020;BAB70861;EAW70169;NP_653230;Q52LD8;XP_005246351 Hs.591615 1661059 RH36623 C2orf11;FLJ30574;MGC117313 OTTHUMP00000163624;chromosome 2 open reading frame 11;raft-linking protein 2;raftlin-2 protein-coding HGNC:26402 12805 VALIDATED 1604380 RFTN1 raftlin, lipid raft linker 1 ENCODES a protein that exhibits double-stranded RNA binding; INVOLVED IN B cell receptor signaling pathway; dsRNA transport; growth; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; endosome; extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 3 3 3 p24.3 16296470 16494283 - 16357352 16555222 - 16315845 16513715 - 6480464;8554872 12477932;12805216;15489334;16344560;17081983;19553259;19834535;20379614;20395239;21139048;21266579;22222511;22797925;23000965;23645746;25015289;7788527 23180 C9JHG2;C9JRN3;C9JWQ9;F8WAR1;G3XAJ6;Q14699;Q8N5I0;U3KPZ2 ABBA01025129;AC010727;AC090948;AK074446;AK301024;AK303846;AK310258;AMYH02006342;AMYH02006343;AU138240;AY237654;BC006400;BC014032;BC032349;BC041884;BC051336;BC069209;BC098270;BC100667;BC100669;BC121795;CH471055;D42043;NM_015150;XM_005264985;XM_005264986;XM_005264987;XM_005264988;XM_006713069;XM_006713070;XM_006713071 AAH06400;AAH14032;AAH32349;AAH51336;AAH69209;AAH98270;AAI00668;AAI00670;AAI21796;AAO91814;BAA07644;BAG62640;BAG64789;EAW64273;EAW64274;EAW64275;NP_055965;Q14699;XP_005265042;XP_005265043;XP_005265044;XP_005265045;XP_006713132;XP_006713133;XP_006713134 Hs.98910 1339445;1662520;1669141;1685958;1693488;1704886;1709712;1710196;1727073;1751715;1759455;2109735;2126817;2127552;2140296;2150862;2153021 D3S3473;D3S3885;G62938;RAFTLIN_9316;RH12058;RH25312;RH35828;RH78558;RH92877;SHGC-105736;SHGC-150983;SHGC-58196;SHGC-76751;SHGC-79918;SHGC-83722;SHGC-86345;UniSTS:31995 FLJ23866;KIAA0084;MGC141678;MGC44480;MIG2;PIB10;PIG9 OTTHUMP00000211200;OTTHUMP00000211201;cell migration-inducing gene 2 protein;proliferation-inducing protein 10;proliferation-inducing protein 9;raft-linking protein;raftlin protein-coding ENSG00000131378 HGNC:30278 17950 VALIDATED 1353893 RFWD2P1 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase pseudogene 1 18 18 18 p11.23 8296347 8298955 + 8411983 8414629 + 8411985 8414631 + 729391 ABBA01049933;AMYH02034278;AP001094;NG_016737 RFWD2P APPROVED pseudo HGNC:31900 INFERRED 1346229 RFWD2 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase ENCODES a protein that exhibits ubiquitin protein ligase activity; INVOLVED IN positive regulation of proteasomal ubiquitin-dependent protein catabolic process; response to ionizing radiation; PARTICIPATES IN p53 signaling pathway; ubiquitin/proteasome degradation pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN centrosome; cytoplasm; focal adhesion; INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; benzo[a]pyrene 1 1 1 q25.1-q25.2 149024694 149287018 - 175913967 176176386 - 175944826 176207250 - 1580863;2316155;6480464;6484113;6907045;8554872 19450511 10395541;11461903;12466024;12477932;12615916;14702039;14739464;15103385;15492238;15994960;16497536;16931761;16949367;17041588;17079684;17805301;17968316;18029348;18815134;19295130;19322201;19741714;19805145;20062082;20333547;20379614;20677014;20843328;20959491;21135113;21145461;21297076;21572435;21625211;21890473;23091414;23269672;23289756;23439647;23736031;23884858;23933908;24027432;24250222;24298020;24722188;25117710;8889548 64326 E9PJB5;E9PMW8;H0Y339;H0Y340;H0YF49;Q05CT6;Q8NHY2;X5D7N8;X5DNY7 ABBA01027863;ABBA01027864;ABBA01027865;ABBA01027866;AF508940;AF527539;AK001278;AK314750;AL162736;AL359265;AL513329;AL590723;AMYH02002190;AMYH02002191;AMYH02002192;AMYH02002193;AMYH02002194;AMYH02002195;AMYH02002196;AY509921;BC020845;BC039723;BC094728;BG717002;BK000438;BX537932;CA450176;CD101686;CH471067;KJ534928;KJ534929;KJ534930;KJ534931;KJ534932;KJ534933;KJ534992;KJ535061;KJ535076;NM_001001740;NM_001286644;NM_022457;XM_005245447;XM_005245448;XM_006711487;XM_006711488;XM_006711489 AAH20845;AAH94728;AAM34692;AAQ08989;AAS82851;AHW56568;AHW56569;AHW56570;AHW56571;AHW56572;AHW56573;AHW56632;AHW56700;AHW56715;BAG37289;BAG50884;DAA01050;EAW90999;EAW91000;EAW91001;EAW91002;NP_001001740;NP_001273573;NP_071902;Q8NHY2;XP_005245504;XP_005245505;XP_006711550;XP_006711551;XP_006711552 Hs.523744 1665225;1767564;2178922;5037552 AL009574;D1S2488;D8S2279;SHGC-75938 COP1;FLJ10416;RNF200;RP11-318C24.3;hCOP1 E3 ubiquitin-protein ligase RFWD2;OTTHUMP00000032911;OTTHUMP00000032912;OTTHUMP00000032913;OTTHUMP00000235258;RING finger and WD repeat domain protein 2;RING finger protein 200;constitutive photomorphogenesis protein 1 homolog;constitutive photomorphogenic protein (COP1);putative ubiquitin ligase COP1 APPROVED protein-coding ENSG00000143207 HGNC:17440 07455 608067 VALIDATED 2881603 RFTN1P1 raftlin, lipid raft linker 1 pseudogene 1 Y Y Y p11.2 1576966 1640686 + 7581026 7644746 - 7712985 7776705 - 12815422 360015 ABBA01060154;ABBA01060155;ABBA01060156;ABBA01060157;ABBA01060158;ABBA01060159;AC007275;NG_002933 1770224;2113544;2188207;2188209;2188211;2188213;2188227 DYS260;DYS463A18;G66277;G66278;G66279;G66280;G66287 pseudo HGNC:23971 INFERRED 1349611 RFWD3 ring finger and WD repeat domain 3 ENCODES a protein that exhibits MDM2/MDM4 family protein binding; p53 binding; ubiquitin-protein transferase activity; INVOLVED IN mitotic G1 DNA damage checkpoint; protein ubiquitination; regulation of DNA damage checkpoint; FOUND IN nucleus; site of double-strand break; INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene diol epoxide I 16 16 16 q23.1 58948218 58993367 - 74655297 74700779 - 74621399 74666892 - 737633;6480464 12477932 14702039;15489334;17567985;19322201;19549727;19690564;19844255;20173098;21139048;21504906;21558276;21832049;21890473;21906983;21963094;21987572;22505724;22939624;23000965;23666239;24332808;24639526 55159 I3L284;I3L299;I3L2T2;I3L4I5;Q6PCD5 ABBA01058106;ABBA01058107;AC109599;AK001382;AK022673;AK291200;AK296727;AK315786;AMYH02032383;AMYH02032384;BC002574;BC059371;BM467919;BP872110;CH471114;NM_018124;XM_005256021;XM_005256022;XM_006721227;XM_006721228 AAH02574;AAH59371;BAA91662;BAB14169;BAF83889;BAG38132;BAG59315;EAW95680;EAW95681;NP_060594;Q6PCD5;XP_005256078;XP_005256079;XP_006721290;XP_006721291 Hs.567525 1699198;1705214;2160035;2180197;5022578;5037552 D16S2631;D1S1423;D8S2279;RH103179;SHGC-61385;SHGC-78076 FLJ10520;RNF201 E3 ubiquitin-protein ligase RFWD3;RING finger and WD repeat domain-containing protein 3;RING finger protein 201 protein-coding ENSG00000168411 HGNC:25539 07678 614151 VALIDATED 1320871 RFC4 replication factor C (activator 1) 4, 37kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 3 3 3 q27 184943843 184960507 - 186507681 186524484 - 186789892 186806695 - 1580863;2306716;6480464;6907045;7246932 18157157;23545418 10051561;10329413;10353443;11326315;11486023;11572977;11907025;12045192;12171929;12192049;12477932;12509469;12736711;12766176;12791985;12930902;1351677;14605214;15489334;15504738;15635413;15655353;16189514;16341674;16344560;16582606;17148452;17643375;18212063;18245774;18247557;18492021;19237606;19615732;19738201;20020773;20147293;20226869;20522537;20574454;20603015;21139048;21150319;21415862;21549307;21853274;21890473;21906983;21907836;22505724;22703881;22863883;22912744;22939629;22990118;23022380;23166591;23443559;23537643;24244333;24332808;24457600;24816145;24958773;25027693;7774928;8692848;9092549;9111189;9121429;9228079;9396813;9488738;9751713;9822671 5984 C9J8M3;C9JGY5;C9JTT7;C9JW34;C9JXZ7;C9JZI1;F8WE44;H7C1P0;P35249 AA521171;ABBA01058381;AC112907;AF538718;AK297282;AMYH02008350;BC017452;BC024022;BM837975;BT006987;CH471052;CR536561;CX788139;DA359927;NM_002916;NM_181573 AAH17452;AAH24022;AAM97933;AAP35633;ABM84404;ABM84469;ABM84732;ABM87354;BAG59753;CAG38798;EAW78169;EAW78170;EAW78171;NP_002907;NP_853551;P35249 Hs.732098 1677997;1739485;1788586;1788588;1788590;1788592;1788594;2139524 D3S3408;G67572;G67573;G67574;G67575;G67576;RH68259;SHGC-30529 A1;MGC27291;RFC37 A1 37 kDa subunit;OTTHUMP00000210038;OTTHUMP00000210039;RF-C 37 kDa subunit;RFC 37 kDa subunit;activator 1 37 kDa subunit;activator 1 subunit 4;replication factor C 37 kDa subunit;replication factor C subunit 4 APPROVED protein-coding ENSG00000163918 HGNC:9972 00022 102577 REVIEWED 1315268 RFX1 regulatory factor X, 1 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X2, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX family members X2, X3, and X5, but not with X4. This protein binds to the X-boxes of MHC class II genes and is essential for their expression. Also, it can bind to an inverted repeat that is required for expression of hepatitis B virus genes. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 13965968 14010760 - 14072342 14117134 - 13961530 14007083 - 1580863;6480464;8554872 10330134;10642512;10706293;11358531;11682486;11748221;11986307;12411430;12477932;12624117;15024578;1505960;1508204;15231748;15302935;15334059;15489334;15528357;16169070;16287876;16289097;16464847;17630394;18673564;19334528;19620312;20181721;20189986;20223637;20381594;21192791;21719561;22242598;22415835;22490869;2253877;22582395;23022380;23667531;24250222;8224874;8289803;8413236;8600444;8661125;8889548;9583676;9733744 5989 K7EIZ8;P22670 A20498;ABBA01029700;ABBA01029701;ABBA01029702;ABBA01029703;ABBA01029704;AC020916;AC022098;AI917511;AK309824;AMYH02035594;AMYH02035595;BC049826;BM557928;BM662273;CH471106;NM_002918;X58964;XM_006722829;XM_006722830;XM_006722831 AAH49826;CAA01506;CAA41730;EAW84387;NP_002909;P22670;XP_006722892;XP_006722893;XP_006722894 Hs.655215 1696984;1699048;1743053 GDB:250918;RH101964;RH103099 EFC;RFX MHC class II regulatory factor RFX;MHC class II regulatory factor RFX1;enhancer factor C;regulatory factor X 1;trans-acting regulatory factor 1;transcription factor RFX1 APPROVED protein-coding ENSG00000132005 HGNC:9982 02476 600006 VALIDATED 8695078 RFX3-AS1 RFX3 antisense RNA 1 9 9 p24.2 3667698 3690889 + 3667698 3690889 + 101929302 AA765553;ABBA01065429;AK126819;AL354977;AMYH02019063;AMYH02019064;AW977824;BG720696;BX118352;H56575;HG501860;HG501862;NR_121586;XR_242523;XR_242524;XR_250459;XR_252503;XR_252504;XR_426378;XR_426379;XR_428443;XR_432369 Hs.122828;Hs.596358;Hs.614984 ncrna HGNC:51197 VALIDATED 1317168 RFX3 regulatory factor X, 3 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013] 9 9 9 p24.2 3142942 3444468 - 3218297 3525992 - 3218297 3526001 - 6480464;8554872 10330134;11682486;12411430;12477932;14702039;15024578;15164053;15489334;16189514;16344560;19671664;20211142;21532573;22415835;23822649;24058526;8289803;8600444;8889548 5991 A9Z1Z2;F6UGA0;F6USP3;F6UV76;F6XM74;H0Y790;H0Y7W5;H0Y7Z4;P48380 ABBA01065429;ABBA01065430;ABBA01065431;ABBA01065432;ABBA01065433;AI811824;AK127804;AK289540;AK310956;AL133549;AL354941;AL365202;AL603631;AMYH02019061;AMYH02019062;AMYH02019063;AW152407;BC022191;BC067778;BM666287;BU170404;CH471071;DB036180;DB461398;NM_001282116;NM_001282117;NM_002919;NM_134428;X76092;XM_005251534;XM_006716840;XM_006716841;XM_006716842;XM_006716843;XM_006716844;XM_006716845;XM_006716846;XM_006716847 AAH22191;AAH67778;BAF82229;CAA53706;EAW58794;EAW58795;EAW58796;EAW58797;EAW58798;EAW58799;NP_001269045;NP_001269046;NP_002910;NP_602304;P48380;XP_005251591;XP_006716903;XP_006716904;XP_006716905;XP_006716906;XP_006716907;XP_006716908;XP_006716909;XP_006716910 Hs.136829;Hs.438858;Hs.734648 1335162;1798076;2151539;2181019 D9S1708;D9S939;RFX3_2153;STS-R89225 MGC87155;bA32F11.1 DNA binding protein RFX3;OTTHUMP00000020993;OTTHUMP00000020994;regulatory factor X 3;transcription factor RFX3 APPROVED protein-coding ENSG00000080298 HGNC:9984 03215 601337 REVIEWED 1603966 RFX7 regulatory factor X, 7 RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009] 15 15 15 q21.3 33271513 33424273 - 56379479 56535728 - 56090533 56243445 - 6480464 12477932;14702039;15302935;18673564;20062064;24292274 64864 H0YLP2;H0YLX2;H0YMH6;Q2KHR2 ABBA01039009;ABBA01039010;AC068726;AC084783;AC247040;AK023056;AK024757;AK126103;AK128045;AL832584;AL833367;AL834302;AMYH02030502;AMYH02030503;AMYH02030504;AMYH02030505;AMYH02030506;AMYH02030507;BC112936;BC143438;CH471082;DW009813;KF456052;NM_022841;XM_005254603;XM_006720646 AAI12937;AAI43439;BAB14381;BAB14988;BAC86441;BAC87248;CAD38972;EAW77498;EAW77499;NP_073752;Q2KHR2;XP_005254660;XP_006720709 Hs.745089 1697392;2129922;2156038;2184941;2186152 D15S616E;RH102195;SHGC-34060;STS-N40998;WI-4242 FLJ12994;FLJ21104;MGC131836;RFXDC2 DNA-binding protein RFX7;regulatory factor X domain containing 2;regulatory factor X domain-containing protein 2 APPROVED protein-coding HGNC:25777 07807 612660 VALIDATED 1343231 RFX2 regulatory factor X, 2 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5932140 6049702 - 5993175 6110664 - 5993164 6110653 - 1580863;6480464;8554872 10330134;11682486;11986307;12477932;14702039;15024578;1505960;15229132;16189514;19913121;20381594;20628086;20889312;22415835;24250222;8289803;8661125;8889549 5990 K7EIN5;K7EJD4;K7EJE4;K7ELD5;K7ELQ7;K7ENC9;K7EQA0;K7EQU2;K7EQY9;K7ES56;P48378 ABBA01055982;AC005784;AC011444;AI149945;AI863426;AK024288;AK093977;AK291196;AK302661;AK303321;AMYH02035344;AMYH02035345;AMYH02035346;BC028579;BC071571;BI464247;BX648130;CH471139;DC400266;N23669;NM_000635;NM_134433;X76091 AAC62839;AAH28579;AAH71571;ABM86238;ABW03697;BAF83885;BAG51286;BAH13773;BAH13941;CAA53705;EAW69112;EAW69113;EAW69114;EAW69115;EAW69116;EAW69117;NP_000626;NP_602309;P48378 Hs.465709 1667774;2132183;2135794;5022651 D11S2921;RH41878;RH48363;SHGC-12012 FLJ14226 DNA binding protein RFX2;DNA-binding protein RFX2;HLA class II regulatory factor RFX2;regulatory factor X 2;trans-acting regulatory factor 2 APPROVED protein-coding ENSG00000087903 HGNC:9983 00824 142765 REVIEWED 1322827 RFXANK regulatory factor X-associated ankyrin-containing protein Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013] 19 19 19 p12 19207811 19217474 + 19303008 19312678 + 19192199 19201869 + 1599746;1580863;6480464;6907045;7240710;8699517;8554872 12618906 10072068;10329666;10725724;10803838;10825209;11003667;11042152;11463838;11836625;12477932;15057824;15964851;16166641;17353931;18723135;20414676;21890473;21906983;21908431;21963094;22242598;22649097;24250222;8889548;9806546 8625 F5GY33;F5H7D2;H0YFU5;H0YFZ0;H0YGQ6;K7ENE6;O14593 ABBA01051318;AC002126;AC003110;AD000812;AF077196;AF094760;AF105427;AF105428;AMYH02035752;AW411190;AW411361;AX025001;BC114558;BC114563;BG740813;BM682278;BM712354;CH471106;CR456981;CR542199;CX871218;JC068885;JC068887;NG_007432;NM_001278727;NM_001278728;NM_003721;NM_134440;X75690;XM_005260134;XM_005260135;XM_005260136;XM_005260137;XM_006722930 AAB86654;AAC69883;AAD17972;AAD17973;AAD26991;AAI14559;AAI14564;CAC09014;CAG33262;CAG46996;CDL97006;CDL97007;EAW84795;EAW84796;EAW84797;EAW84798;EAW84799;NP_001265656;NP_001265657;NP_003712;NP_604389;O14593;XP_005260191;XP_005260192;XP_005260193;XP_005260194;XP_006722993 Hs.153629;Hs.296776 2186872;5022771;5113050 RFXANK;RH35911;STS-N25631 ANKRA1;BLS;F14150_1;MGC138628;RFX-B DNA-binding protein RFXANK;OTTHUMP00000240437;OTTHUMP00000240438;OTTHUMP00000240439;OTTHUMP00000240440;OTTHUMP00000240442;OTTHUMP00000240443;RFX-Bdelta4;ankyrin repeat family A protein 1;ankyrin repeat-containing regulatory factor X-associated protein;regulatory factor X subunit B APPROVED protein-coding ENSG00000064490 HGNC:9987 04435 209920;603200 REVIEWED 1354416 RFX4 regulatory factor X, 4 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] 12 12 12 q24 106642624 106822170 + 106976685 107156582 + 106582907 106762804 + 6480464 10706293;11682486;12477932;12925582;14701801;15940297;1603086;16193984;16271074;16893423;17510980;17903297;18218630;18378158;18673564;19328558;21084426;23583979;8600444 5992 B4DZB7;F8VRD4;F8VU87;F8VX50;F8VZC4;F8W1T9;Q33E94;R4GMS3 AB044245;AB095365;AB095366;AB195784;AB195785;ABBA01053162;ABBA01053163;ABBA01053164;AC009721;AC079385;AF332192;AI002078;AI191585;AK074913;AK291445;AK302837;AK315698;AL833921;AMYH02027131;AMYH02027132;AY102009;BC028582;BC030644;CH471054;DB445991;KF455710;NM_001206691;NM_032491;NM_213594 AAH28582;AAH30644;AAK17191;AAM52484;ABM81757;ABM84912;BAB59001;BAC11288;BAE48231;BAE48232;BAE48237;BAE48238;BAF84134;BAG38061;BAG64029;CAD38777;EAW97782;EAW97783;EAW97784;NP_001193620;NP_115880;NP_998759;Q33E94 Hs.388827 1676278;1703404;1712430;1712482;1712486;1712488;1713501;1718329;1772115;1798078;1848611;1853315;1855452;2154336;2187649 1812;D12S1331;D12S1412;D12S1848;D12S2024;D12S2072;G54190;G54192;G54193;G54250;RFX4_2241;RH120234;RH123678;RH98710;SHGC-68717 NYD-SP10 OTTHUMP00000240312;OTTHUMP00000240314;OTTHUMP00000240316;regulatory factor X 4;regulatory factor X4, isoform c;testis development protein NYD-SP10;transcription factor NYD-sp10;transcription factor RFX4;winged-helix transcription factor RFX4 APPROVED protein-coding ENSG00000111783 HGNC:9985 04905 603958 REVIEWED 1349182 RFPL4A ret finger protein-like 4A ENCODES a protein that exhibits zinc ion binding (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.42 53315258 53319293 + 56270507 56274541 + 55759141 55763175 + 6480464 11850190;15057824;16364311;20379614;23000965;23377640 342931 A6NLU0 ABBA01161408;AC008749;AMYH02036477;NM_001145014 A6NLU0;NP_001138486 Hs.631553 2150316 D1S2440 RFPL4;RNF210 OTTHUMP00000229823;RING finger protein 210;ret finger protein-like 4 protein-coding ENSG00000223638 HGNC:16449 612601 VALIDATED 1352806 RGAG1 retrotransposon gag domain containing 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate X X X q23 110141909 110179186 + 109602044 109699562 + 110419057 110456334 + 6480464;8554872 10718198;12477932;15489334;15716091;16093683;18029348;21282530;24163370 57529 B4DYG8;E5RKA1;Q8NET4 AB037739;ABBA01043399;ABBA01043400;ABBA01043401;ABBA01043402;ABBA01043403;ABBA01043404;ABBA01043405;ABBA01043406;AC000113;AK302427;AMYH02040231;AY121804;BC113670;BC117184;CH471120;KF459306;NG_016402;NM_020769 AAI13671;AAI17185;AAM82752;BAA92556;BAG63730;EAX02659;NP_065820;Q8NET4 Hs.201071 1702716;2128498;2150189;2161165 DXS287;DXS9727;L77264;L77265 KIAA1318;MGC142230;Mar9;Mart9 OTTHUMP00000023850;retrotransposon gag domain-containing protein 1;tumor antigen BJ-HCC-23;tumor antigen BJHCC23 protein-coding ENSG00000243978 HGNC:29245 06600 VALIDATED 1348538 RFXAP regulatory factor X-associated protein Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q14 18460633 18471030 + 37393339 37403740 + 36819202 36829603 + 1580863;6480464;6907045;7240710;8699517;8554872 10072068;10825209;11244040;11463838;12136098;12477932;15210800;15781111;15964851;16337482;18336911;18723135;19274739;20024540;20431927;20732328;21988832;22939629;24250222;8290561;8717517;9118943;9287230;9806639 5994 O00287 ABBA01021353;AJ327174;AK313912;AL159973;AMYH02027869;BC026088;BI823132;CH471075;JC068893;NG_007876;NM_000538;Y12812 AAH26088;ABM82095;ABM84507;ABM85278;BAG36635;CAA73338;CDL97010;EAX08574;EAX08575;NP_000529;O00287 Hs.24422 1778925;2176531;5097041 G62030;WI-16351;WI-22737 OTTHUMP00000018260;RFX DNA-binding complex 36 kDa subunit;RFX-associated protein APPROVED protein-coding ENSG00000133111 HGNC:9988 03515 209920;601861 REVIEWED 1350874 RGAG4 retrotransposon gag domain containing 4 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17alpha-ethynylestradiol; benzo[a]pyrene; benzo[a]pyrene diol epoxide I X X X q13.1 71691161 71695444 - 71346960 71351751 - 72127110 72131901 - 6480464;8554872 12056414;12477932;15716091;15772651;16093683;18976975 340526 Q5HYW3 AB082532;ABBA01046183;ABBA01046184;AL359579;AMYH02039699;BC151224;BX119917;NG_021352;NG_029583;NM_001024455 AAI51225;BAC02710;CAB94872;NP_001019626;Q5HYW3 Hs.512180 2168073;2183788 A007B16;AF020216 6430402L03Rik;KIAA2001;Mar5;Mart5 OTTHUMP00000023523;retrotransposon gag domain-containing protein 4 protein-coding ENSG00000242732 HGNC:29430 18594 VALIDATED 1347432 RGL2 ral guanine nucleotide dissociation stimulator-like 2 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH cobalt dichloride; crocidolite asbestos; diazinon 6 6 6 p21.3 34813789 34821534 - 33259431 33267386 - 33291654 33299460 - 1580863;6480464;8554872 10079301;11230166;12477932;14702039;15031288;15489334;16169070;16344560;17474147;18540861;19851445;20801877;20936779;21160498;21906983;21988832;23898208;8939933;8976381;9521053;9545376 5863 A2AB89;O15211 AB012295;ABBA01038140;AK095967;AK294442;AL050259;AL662820;AL662827;AMYH02013483;BC000316;BC005037;BC032681;BC040989;BX000343;BX248088;BX648015;CH471081;CR759786;CR759817;D85757;DA158284;DB076334;NM_001243738;NM_004761;U68142;XM_005249256;XM_005249257;XM_005249258;XM_005272848;XM_005272849;XM_005272850;XM_005275004;XM_005275005;XM_005275006;XM_005275273;XM_005275274;XM_005275275;XM_005275434;XM_005275435;Z97184 AAC50818;AAH00316;AAH05037;AAH32681;AAH40989;BAA36193;BAA75926;BAG57683;CAB09992;CAB43361;CAC88186;EAX03708;EAX03709;EAX03710;EAX03711;EAX03712;EAX03713;EAX03714;NP_001230667;NP_004752;O15211;XP_005249313;XP_005249314;XP_005249315;XP_005272905;XP_005272906;XP_005272907;XP_005275061;XP_005275062;XP_005275063;XP_005275330;XP_005275331;XP_005275332;XP_005275491;XP_005275492 Hs.509622 1676436;1769932;1788900;1852663;2117369;2181737 D6S1891;MARC3086-3087;RH15812;RH67825;RH98925;STS-W74659 HKE1.5;KE1.5;RAB2L GDS-related protein;OTTHUMP00000029085;RAB2, member RAS oncogene family-like;ralGDS-like 2;ralGDS-like factor;ras-associated protein RAB2L protein-coding ENSG00000237441 HGNC:9769 03810 602306 VALIDATED 1606411 RGL4 ral guanine nucleotide dissociation stimulator-like 4 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); small GTPase mediated signal transduction (inferred); FOUND IN cytoplasmic vesicle (inferred); INTERACTS WITH copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 22 22 22 q11.23 7872144 7880459 + 24033048 24041444 + 23690861 23699176 + 6480464 10591208;10851075;12140761;12477932;12874025;9154803;9178890 266747 B5MCW5;E7EPT8;E9PH21;H7C063;Q8IZJ4 ABBA01055117;AK131340;AMYH02038132;AP000347;AY101396;BC101108;BC101109;BC101110;CH471095;NM_153615 AAI01109;AAI01110;AAI01111;AAM51551;BAD18497;EAW59594;EAW59595;NP_705843;Q8IZJ4 Hs.658997 2136927;2137589 AF021122;D20S608 MGC119678;MGC119680;Rgr;hRGR OTTHUMP00000198314;OTTHUMP00000198315;OTTHUMP00000198318;Ral-GDS related protein Rgr;RalGDS related oncogene;ral-GDS-related protein;ralGDS-like 4 protein-coding ENSG00000159496 HGNC:31911 11528 612214 PROVISIONAL 1320262 RGL3 ral guanine nucleotide dissociation stimulator-like 3 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); Ral guanyl-nucleotide exchange factor activity (inferred); Ras GTPase binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); positive regulation of Ral GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; pirinixic acid 19 19 19 p13.2 11399604 11424860 - 11504732 11530018 - 11394056 11419342 - 737633;6480464;8554872 12477932 14702039;16344560;19913121;20628086;21906983 57139 H3BN42;H3BQS8;H3BRW0;K7EIS7;K7EMV7;Q3MIN7 ABBA01029856;ABBA01029857;AC008481;AC024575;AK057147;AK096811;AK126263;AK293404;AK298281;AMYH02035526;AMYH02035527;AMYH02035528;AMYH02035529;BC014426;BC064475;BC101756;BC111958;BC143530;BM992649;CH471106;DB184397;NM_001035223;NM_001161616 AAH14426;AAI01757;AAI11959;AAI43531;BAG53366;BAG56911;BAG60541;EAW84209;EAW84210;EAW84211;EAW84212;NP_001030300;NP_001155088;Q3MIN7 Hs.375142 1650173;1697172;1749185;2219628;5015404;5016596;5024413 GDB:631802;L17705;L17877;RGL3__5490;RH102074;RH45126;SHGC-110871 FLJ00153;FLJ32585;FLJ44275;MGC126805;MGC138163 RalGEF-like protein 3, mouse homolog;ralGDS-like 3 protein-coding ENSG00000205517 HGNC:30282 VALIDATED 733140 RGCC regulator of cell cycle This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008] 13 13 13 q14.11 23088009 23101472 + 42031542 42045013 + 41457406 41470877 + 6480464 11687586;12477932;14702039;15057823;15489334;15591621;15713436;15932515;17081983;17146433;18029348;18308847;19158077;19162005;19270026;19652095;19883641;20635389;20862745;21307346;21833088;21990365;22163048;23000427;23715780;24068962;8889548;9756947 28984 Q9H4X1 ABBA01021266;AF036549;AK091099;AK095079;AL354833;AMYH02027922;BC038706;BC066334;BU679672;CH471075;DB451897;NM_014059 AAF04336;AAH66334;EAX08663;EAX08664;NP_054778;Q9H4X1 Hs.507866 1667436;1681456;1737521;1849136;5020948;5037552;5091519 D13S1050;D8S2279;G35510;RH44804;RH45336;RH93770;SHGC-36498 C13orf15;KIAA0564;MGC87338;RGC-32;RGC32;bA157L14.2 OTTHUMP00000018322;regulator of cell cycle RGCC;response gene to complement 32 protein APPROVED protein-coding ENSG00000102760 HGNC:20369 17970 610077 REVIEWED 1316716 RFX6 regulatory factor X, 6 The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010] 6 6 6 q22.1 117941504 117996443 + 117198376 117253326 + 116877213 116932163 + 1580863;6480464;8699517;7240710;8554872 12477932;16189514;18673564;20148032;20676098;21215266;21750414;21965172;21988832;22662242;24390282;24722188 222546 Q8HWS3 ABBA01026045;AL355272;AMYH02014356;BC039248;BQ269808;CA842450;CA947154;CH471051;NG_027699;NM_173560 AAH39248;EAW48212;EAW48213;NP_775831;Q8HWS3 Hs.352276 2127835 D6S2158 MGC33442;MTCHRS;MTFS;RFXDC1;dJ955L16.1 DNA-binding protein RFX6;OTTHUMP00000017079;regulatory factor X domain containing 1;regulatory factor X domain-containing protein 1 APPROVED protein-coding ENSG00000185002 HGNC:21478 11490 612659;615710 REVIEWED 7245800 RGMB-AS1 RGMB antisense RNA 1 INTERACTS WITH (+)-catechin 5 5 5 q21.1 93989447 93992913 - 98105322 98108788 - 98769618 98773084 - 12477932;14702039 503569 ABBA01069204;AC008522;AK093265;AMYH02011845;BC029880;BC042169;NR_033932 Hs.586188 ncrna ENSG00000246763 HGNC:48666 VALIDATED 1323724 RGMA repulsive guidance molecule family member a This gene encodes a member of the repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 15 15 15 q26.1 69998187 70044004 - 93586636 93632443 - 93043406 93089214 - 737633;6480464;6484113 12477932 11076863;11230166;11256614;14702039;15084667;15258590;15489334;15489336;15975920;16169070;16216939;16303743;16344560;16381901;17472960;17606441;17615080;18367154;18485097;19273616;19303019;19458235;19698085;20072140;21044950;21183991;21467223;21617229;22076499;22367090;22396795;22566498;23028342;24024966 56963 F5H7G2;G3V3Z3;G3V4C2;G3V545;Q96B86 ABBA01053104;AC087641;AK074910;AK074966;AK074980;AK125047;AK125204;AK299363;AK309814;AL136826;AL390083;AMYH02031082;AMYH02031083;BC015886;BC127826;BC140838;BC151132;CH471101;CQ782935;CQ782957;CQ783740;DA183348;DA295545;DA453869;DA512691;DA805034;DC317516;KF456122;KF511221;NM_001166283;NM_001166286;NM_001166287;NM_001166288;NM_001166289;NM_020211 AAH15886;AAI27827;AAI40839;AAI46683;AAI51133;BAC11285;BAC11321;BAC11330;BAG54165;BAH13014;CAB66760;CAB98207;CAF86163;CAF86186;CAF86838;CAL37563;EAX02166;EAX02167;NP_001159755;NP_001159758;NP_001159759;NP_001159760;NP_001159761;NP_064596;Q96B86 Hs.271277 1664881;1728703;2109753;2151564;2164165 A008J37;G63723;RGMA__6886;RH47538;WI-17713 RGM OTTHUMP00000246838;OTTHUMP00000246839;OTTHUMP00000246841;RGM domain family, member A;repulsive guidance molecule A APPROVED protein-coding ENSG00000182175 HGNC:30308 09560 607362 REVIEWED 1323259 RFX5 regulatory factor X, 5 (influences HLA class II expression) A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008] 1 1 1 q21 124428407 124435060 - 151313116 151319785 - 151340640 151347293 - 1599742;1599743;1580863;6480464;6907045;7240710;8699517;8554872 7744245;9401005 10072068;10079298;10779326;10825209;11003667;11244040;11986307;12368908;12477932;12697811;12968017;15210800;15253423;15489334;15964851;16464847;16710414;17611194;18723135;18842294;19041327;20431927;20732328;22649097;22939629;23079621;23911394;24816145;8125298;9118943;9177217;9190936;9806546 5993 F2Z2G0;F6R6G4;F6S3S0;F6UE82;F6X9D6;F8W689;F8WDU3;F8WFE4;H0Y4B4;P48382 ABBA01049391;AK223526;AK302891;AK309072;AK311525;AK312289;AL050135;AL391069;AMYH02001878;BC017471;BX423384;CH471121;JC068889;JC068891;NG_007576;NM_000449;NM_001025603;X85786;XM_005245405;XM_005245406 AAH17471;ABM83308;ABM86520;BAD97246;BAG35216;BAH13834;CAA59771;CAB43285;CDL97008;CDL97009;EAW53446;EAW53447;EAW53448;NP_000440;NP_001020774;P48382;XP_005245462;XP_005245463 Hs.632472 1663896;1668409;1776497;1798080;1799954;1800716;1801046;1802090;1802092;1802752;1805628;1825558;1925836;1925838;1925840;1925842;1925844;1925846;1925848;1925850;1925852;1925854;1925856;1925858;1925860;1925862;1925864;1925866;1925868;1925870;1925872;1925874;1925876;1925878;1925880;1925882;1925884;1925886;1925888;1925890;1925892;1925894;1925896;1925898;1925900;1925902;1925904;1925906;1925908;2123579;2207658;2207660;2207662;2207664;2207666;5112329 ECD00831;ECD01219;ECD01391;ECD01927;ECD01928;ECD02263;ECD03764;ECD13887;REN33743;REN33744;REN33745;REN33746;REN33747;REN33748;REN33749;REN33750;REN33751;REN33752;REN33753;REN33754;REN33755;REN33756;REN33757;REN33758;REN33759;REN33760;REN33761;REN33762;REN33763;REN33764;REN33765;REN33766;REN33767;REN33768;REN33769;REN33770;REN33771;REN33772;REN33773;REN33774;REN33775;REN33776;REN33777;REN33778;REN33779;RFX5_2147;RH103469;RH47537;RH67835;SHGC-31587;WI-21861;stSG627123;stSG627124;stSG627125;stSG627126;stSG627128 DNA-binding protein RFX5;OTTHUMP00000014465;OTTHUMP00000081737;OTTHUMP00000082795;OTTHUMP00000082796;OTTHUMP00000196318;OTTHUMP00000196320;OTTHUMP00000196321;regulatory factor X 5 APPROVED protein-coding ENSG00000143390 HGNC:9986 03517 209920;601863 REVIEWED 1323378 RGP1 RGP1 retrograde golgi transport homolog (S. cerevisiae) ENCODES a protein that exhibits Rab GTPase binding; Rab guanyl-nucleotide exchange factor activity; INVOLVED IN negative regulation of cellular protein catabolic process; positive regulation of Rab GTPase activity; retrograde transport, endosome to Golgi; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol; membrane; protein complex; INTERACTS WITH all-trans-retinoic acid; carmustine; temozolomide 9 9 9 p13.3 35682828 35686815 + 35749277 35753264 + 35749280 35790428 + 737633;6480464;8554872 12477932 15489334;17207965;18187620;21139048;21906983;21963094;22797925;23091056;9039502 9827 A8K0K1;Q92546 ABBA01064987;AK289566;AL133410;AMYH02019464;BC001725;CH471071;D87447;NG_033899;NM_001080496;XM_006716895 AAH01725;ADQ32168;BAA13388;BAF82255;EAW58343;NP_001073965;Q92546;XP_006716958 Hs.493804 1661734;1678753;2191811 MARC_8221-8222:996688418:1;RH69919;RH80781 KIAA0258 OTTHUMP00000021349;retrograde Golgi transport protein RGP1 homolog protein-coding HGNC:21965 615742 VALIDATED 1350725 RGMB repulsive guidance molecule family member b RGMB is a glycosylphosphatidylinositol (GPI)-anchored member of the repulsive guidance molecule family (see RGMA, MIM 607362) and contributes to the patterning of the developing nervous system (Samad et al., 2005 [PubMed 15671031]).[supplied by OMIM, Apr 2009] 5 5 5 q15 93989124 94016323 + 98104999 98132198 + 98769295 98796494 + 6480464;6484113 12477932;14702039;14985445;15489334;15671031;19324014;21182207;21617229;22076499;22415859;23744777;24236485 285704 J3KNF6;Q6NW40 ABBA01069203;ABBA01069204;AC008522;AK054622;AK074887;AK125284;AMYH02011845;BC020513;BC044231;BC067736;BG251558;BI763873;CH471084;CQ783726;NM_001012761;XM_005271966 AAH67736;BAC11268;CAF86831;EAW96093;EAW96094;EAW96095;NP_001012779;Q6NW40;XP_005272023 Hs.526902 1662486;2135338 RH44931;STS-N24666 DKFZp434P228;FLJ90406;MGC86970 DRAGON;DRG11-responsive axonal guidance and outgrowth of neurite;OTTHUMP00000222628;OTTHUMP00000222629;RGM domain family member B;RGM domain family, member B;repulsive guidance molecule B APPROVED protein-coding ENSG00000174136 HGNC:26896 15243 612687 VALIDATED 1602617 RGPD1 RANBP2-like and GRIP domain containing 1 INVOLVED IN protein targeting to Golgi (inferred); INTERACTS WITH calcitriol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 2 2 2 p11.2 103645975 103694840 + 87140890 87241099 + 86913767 87013976 + 6480464 15710750;15815621;16344560;17081983;17643375;19913121;20360068;20628086;21890473;21906983;22505724;22939629;23000965;24816145;25027693 400966 F8VYC4;H7C1V8;P0DJD0 AC111200;AF237700;AK303443;AMYH02004205;AMYH02004206;AMYH02004207;AMYH02004208;AMYH02004209;AMYH02004210;AMYH02004211;AMYH02004212;AMYH02004213;AMYH02004214;AMYH02004215;AMYH02004216;CR749330;DA725306;DC343949;DC353941;DC378175;NM_001024457;XM_005264312;XM_005264313;XM_005264314;XM_006712018 AAF64155;AAI72352;BAG64489;CAH18184;NP_001019628;P0DJD0;XP_005264369;XP_005264370;XP_005264371;XP_006712081 Hs.728970 1797200;5016889;5016895;5019090;5021529;5113357;5126146 D2S2643;RH16188;RH65147;RH79781;SHGC-53196;SHGC-79048;WBP1 FLJ58076;RGP1;RGPD2;RanBP2L2 OTTHUMP00000203674;RANBP2-like and GRIP domain-containing protein 1;RANBP2-like and GRIP domain-containing protein 1/2;ran-binding protein 2-like 2/6;ran-binding protein 2-like 6;ranBP2-like 2/6;ranBP2-like 6;ranBP2L6 protein-coding ENSG00000187627 HGNC:32414 612704 VALIDATED 1602139 RGPD3 RANBP2-like and GRIP domain containing 3 This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011] 2 2 2 q13 103645985 103708990 + 107021136 107084801 - 106391360 106468345 - 6480464;8554872 15710750;15815621;21890473;21906983;21963094;22505724;23000965;23314748;25027693 653489 A6NKT7;J3KNE0 AC097527;AC114755;AK310529;AMYH02004493;NG_021160;NM_001144013;XM_006712708 A6NKT7;NP_001137485;XP_006712771 Hs.726367 1771700;5016895;5019090 RH11823;RH16188;SHGC-79048 RGP3 OTTHUMP00000203308;ranBP2-like and GRIP domain-containing protein 3 APPROVED protein-coding ENSG00000153165 HGNC:32416 612706 REVIEWED 7380196 RGPD4-AS1 RGPD4 antisense RNA 1 (head to head) 2 2 2 q12.3 102648824 102652521 - 108439520 108443225 - 107823064 107826769 - 12477932;14702039 729121 AA962330;ABBA01043983;AC096655;AK097754;AMYH02004504;BC041173;HG494444;NR_024439 Hs.386155 AC096655.2 ncrna ENSG00000230651 HGNC:49273 VALIDATED 1319015 RGL1 ral guanine nucleotide dissociation stimulator-like 1 INVOLVED IN cellular lipid metabolic process (inferred); small molecule metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 1 1 1 q25.3 156716240 157008586 + 183605208 183897666 + 183636073 183928532 + 1580863;6480464;8554872 10231032;10545207;10760592;12477932;15342556;18951430;20360315;20379614;20936779;21832049;23273568 23179 B7Z2W5;Q9NZL6 AB023176;ABBA01027742;ABBA01027743;ABBA01027744;ABBA01027745;ABBA01027746;ABBA01027747;AF186779;AF186780;AF186798;AK295179;AK295611;AK304293;AK309237;AK311701;AK311716;AK316526;AL080117;AL137800;AL157899;AL590422;AL592299;AMYH02002284;AMYH02002285;AMYH02002286;AMYH02002287;BC039250;BC136591;BF197850;BP235344;BX537416;CH471067;DC333918;KF510711;NM_001297669;NM_001297670;NM_001297671;NM_001297672;NM_015149;XM_005245010;XM_005245011 AAF67280;AAF67281;AAG14400;AAG14401;AAI36592;BAA76803;BAH12001;BAH12125;BAH14151;BAH14897;CAB45716;CAD97658;EAW91165;EAW91166;EAW91167;EAW91168;NP_001284598;NP_001284599;NP_001284600;NP_001284601;NP_055964;Q9NZL6;XP_005245067;XP_005245068 Hs.497148 1658436;1667009;1692034;1699502;1699908;1711202;1712266;1753951;1851340;2112366;2115219;2130388;2186541 AL009889;AL033670;D1S3634;G19310;G54041;RH103345;RH103562;SHGC-58249;SHGC-75978;SHGC-76026;SHGC-85356;SHGC-89351;STS-Z40837 KIAA0959;RGL OTTHUMP00000033268;OTTHUMP00000033379;ralGDS-like 1 protein-coding ENSG00000143344 HGNC:30281 12032 605667 VALIDATED 1605443 RGPD2 RANBP2-like and GRIP domain containing 2 INVOLVED IN protein targeting to Golgi (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 2 2 2 p11.2 103679929 103711578 + 88056717 88125331 - 87757198 87825812 - 6480464 15710750;15815621;17081983;20360068;21890473;21906983;22488850;22505724;23000965 729857 B4DYH0;P0DJD1 AC093616;AK298885;AK300276;AK300352;AK302429;AMYH02004239;AMYH02004240;AMYH02004241;AMYH02004242;AMYH02004243;AMYH02004244;AMYH02004245;AMYH02004246;AMYH02004247;AMYH02004248;AMYH02004249;AMYH02004250;AY354203;NM_001078170;XM_005264535 AAQ63888;BAG60998;BAG62036;BAG62094;BAG63732;NP_001071638;P0DJD1;XP_005264592 Hs.652430;Hs.728970 1645387;1673898;1683016;1760011;1760511;1773826;1797200;1848149;2120951;2123977;2127901;2132577;2182022;5016889;5016895;5019090;5113357 DXS7382;DXS7383;RH16188;RH17794;RH18435;RH65147;RH67924;RH79061;RH79781;RH98799;SHGC-105852;SHGC-14180;SHGC-143605;SHGC-36406;SHGC-6658;SHGC-79048;WBP1 FLJ56975;NUP358;RANBP2L2;RGP2 OTTHUMP00000203595;RANBP2-like and GRIP domain-containing protein 2;Ran binding protein 2-like 2;nucleoporin;ran-binding protein 2-like 2;ranBP2-like 2 protein-coding HGNC:32415 18641 612705 VALIDATED 1602942 RGPD7 RANBP2-like and GRIP domain containing 7 q13 11230166;15710750;15815621;9480752 652919 AC123886;NM_001037866 AAI56283;AAY14839;NP_001032955;Q9H0B2 Hs.712500 RGP7 protein-coding HGNC:32420 1603061 RGPD6 RANBP2-like and GRIP domain containing 6 INVOLVED IN protein targeting to Golgi (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 3-methylcholanthrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 2 2 2 q13 1 2785 + 111271379 111336309 - 110513802 110578732 - 6480464 11230166;12477932;14702039;15710750;15815621;17342744;17452356;18220336;18669648;20360068;22505724;23463506;24816145;9480752 729540 C9J1P2;C9JF75;H0YBN8;H7BZ48;Q99666;V9HWE4 AC108938;AC109815;AC123886;AC226101;AC244199;AK056675;EF491794;NM_001037866;NM_001123363;XM_005263753;XM_005263755;XM_005263756 AAI56283;AAY14839;AAY24132;NP_001032955;NP_001116835;Q99666;XP_005263810;XP_005263812;XP_005263813 Hs.535589;Hs.645445 1651210;5016895;5024402;5091929;5109585;5124960 D2S1552E;D2S2897;DXS7625;RH16188;RH35930;WI-15297 MGC190070;RGP6;RGPD5;RGPD7;RanBP2L1;RanBP2L2 OTTHUMP00000216489;OTTHUMP00000225220;RANBP2-like and GRIP domain-containing protein 5/6;RANBP2-like and GRIP domain-containing protein 7;RANBPL1;ran-binding protein 2-like 1/2;ranBP2-like 1/2;sperm membrane protein BS-63 protein-coding ENSG00000183054 HGNC:32419 612709 VALIDATED 1602819 RGPD4 RANBP2-like and GRIP domain containing 4 INVOLVED IN protein targeting to Golgi (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 2 2 2 q12.3 103645960 103714773 + 108443388 108509000 + 107826932 107892544 + 6480464;8554872 15710750;15815621;19596235;21890473;21906983;21963094;22505724;23000965;24639526;24654937;24816145 285190 Q7Z3J3 AC009963;AC096655;AK302921;AMYH02004504;BX537861;NM_182588;XM_006712454 BAG64086;CAD97866;NP_872394;Q7Z3J3;XP_006712517 Hs.449164 1771700;5016895;5019090;5037552;5091929;5107903;5109585;5124242;5124960 D2S1552E;D2S2897;D8S2279;RH11823;RH16188;RH35930;RH69629;SHGC-53224;SHGC-79048 DKFZp686P0288;RGP4 OTTHUMP00000203360;ranBP2-like and GRIP domain-containing protein 4 protein-coding ENSG00000196862 HGNC:32417 612707 VALIDATED 2793201 RFX8 RFX family member 8, lacking RFX DNA binding domain ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH dasatinib (anhydrous) 2 2 2 q11.2 96217462 96291111 - 102013823 102091165 - 101397361 101474703 - 6480464;8554872 11181995;14702039;15815621;23518928 731220 D6RAX4;E9PDA6;Q6ZV50 ABBA01073911;ABBA01073912;AC092570;AK124976;AK131289;AK298610;AMYH02004424;CH471127;NM_001145664 BAC86013;BAD18461;BAG60794;EAX01812;EAX01813;NP_001139136;Q6ZV50 Hs.662488 1686560;2114692 RH46418;RH98421 FLJ16242;FLJ42986;FLJ52890 DNA-binding protein RFX8;OTTHUMP00000207890;RFX gene family member 8, lacking RFX DNA binding domain;regulatory factor X 8;regulatory factor X, 8 APPROVED protein-coding ENSG00000196460 HGNC:37253 VALIDATED 735445 RGS1 regulator of G-protein signaling 1 This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008] 1 1 1 q31 165654672 165658974 + 192544857 192549159 + 192575727 192580029 + 69961;1580863;6480464;8554872 8602223 10480894;10747990;10760272;11251075;11520900;12477932;14702039;15215290;15489334;15728464;16169070;16565322;16710414;18301890;18311140;18580492;18805825;19073967;19693089;19865102;19877080;19879194;19913121;20083228;20171186;20190752;20301492;20468064;20555355;20627871;20628086;20647273;21795595;21832049;21833088;23324853;23464602;23898208;24130709;8241276;8473738;9174164;9774420 5996 Q08116 AA962409;ABBA01027644;AF493925;AK093544;AK303138;AK315607;AL039059;AL136987;AMYH02002376;BC015510;BG536972;BT006668;BU783195;CH471067;EU668340;NM_002922;X73427 AAH15510;AAM12639;AAP35314;ABM81577;ABM84757;ACF94493;BAG37976;BAG64242;CAA51826;EAW91226;EAW91227;EAW91228;NP_002913;Q08116 Hs.75256 1674007;1675222;1796674;5014567 D1S3256;RGS1_1489;RH11447;WI-14327 1R20;BL34;HEL-S-87;IER1;IR20 B-cell activation protein BL34;OTTHUMP00000033591;early response protein 1R20;epididymis secretory protein Li 87;immediate-early response 1, B-cell specific;regulator of G-protein signalling 1 APPROVED protein-coding ENSG00000090104 HGNC:9991 15968 600323 REVIEWED 1601778 RGPD8 RANBP2-like and GRIP domain containing 8 INVOLVED IN protein targeting to Golgi (inferred); INTERACTS WITH elemental selenium; selenium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q13 106577962 106578225 - 113125946 113191222 - 112368369 112433645 - 6480464 12477932;15710750;18976975;20360068;21890473;21906983;21963094;22505724;23000965;24816145;25027693;9480752 727851 C9J6W1;F8W705;H0YBN8;J3KQ37;O14715 ABBA01074258;AC112246;AC115115;AF012086;AMYH02004585;AMYH02004586;AMYH02004587;BC020901;BC037274;NM_001164463;XM_005263747;XM_005263748 AAC05596;NP_001157935;O14715;XP_005263804;XP_005263805 Hs.469630;Hs.535589 5016895;5024402;5091929;5109585;5124960 D2S1552E;D2S2897;RH16188;RH35930;WI-15297 RANBP2L1;RGP8;RanBP2alpha OTTHUMP00000203605;OTTHUMP00000225155;OTTHUMP00000225157;RAN binding protein 2-like 1;RANBP2-like and GRIP domain-containing protein 8;ran-binding protein 2-like 3;ranBP2-like 3;ranBP2L3 protein-coding ENSG00000169629 HGNC:9849 602752 VALIDATED 737086 RGS10 regulator of G-protein signaling 10 Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 10 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. This protein associates specifically with the activated forms of the two related G-protein subunits, G-alphai3 and G-alphaz but fails to interact with the structurally and functionally distinct G-alpha subunits. Regulator of G protein signaling 10 protein is localized in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q25 114987371 115030248 - 121259339 121302222 - 119499827 119542710 - 1580863;6480464 10608901;10747990;10791963;11443111;11955952;12062898;12477932;15215290;15482592;16341674;16385451;16511171;16712791;17353931;17881498;18029348;20468064;20627871;20816714;21044322;21705617;21832049;21890473;21906983;22210881;23093381;24475290;24561123;24816145;8774883;9207071;9353196 6001 O43665 ABBA01062897;ABBA01062898;AC012468;AF045229;AF368902;AF493934;AI219612;AK290773;AL355273;AL547312;AL592286;AMYH02023908;AV707839;BC009361;BF685740;BG763741;BM782346;BM914660;CB112318;CB124184;CH471066;CR457008;NM_001005339;NM_002925 AAC03783;AAH09361;AAK52979;AAM12648;ADZ15814;BAF83462;CAG33289;EAW49389;EAW49390;EAW49391;NP_001005339;NP_002916;O43665 Hs.501200 1755689;2108425;2145229;2147276 RGS10_8168;SHGC-142529;SHGC-33199;WI-15787 OTTHUMP00000020597;OTTHUMP00000020598;regulator of G-protein signalling 10 APPROVED protein-coding ENSG00000148908 HGNC:9992 04172 602856 REVIEWED 1319366 RGR retinal G protein coupled receptor This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 10 10 10 q23 80000467 80014611 + 86004809 86018944 + 84245053 84259188 + 1580863;1599623;6480464;7240710;8699517;8554872 10581022 11274198;11723126;12477932;12542842;12573668;12843338;15489334;16189514;16385451;16737970;17286855;17679941;18240029;18474598;19450444;20301590;20591486;20801516;21067480;21441953;7789419;7947717;8641686 5995 P47804;Q96HT6 ABBA01003756;AC022389;AMYH02023450;AMYH02023451;BC008094;BC011349;BC027987;BC042536;BG912392;BX641033;CH471142;DQ980610;NG_009106;NM_001012720;NM_001012722;NM_002921;U14910;U15790 AAA56748;AAB92384;AAH08094;AAH11349;ABM83000;ABM86193;EAW80354;EAW80355;EAW80356;EAW80357;EAW80358;NP_001012738;NP_001012740;NP_002912;P47804 Hs.1544 1341589;1777594;1777596;2130914 D10S1774;RH70572;STS-U14910;WI-18987 RP44 OTTHUMP00000019996;RGR-opsin;RPE retinal G-protein coupled receptor;RPE-retinal G protein-coupled receptor APPROVED protein-coding ENSG00000148604 HGNC:9990 02642 600342;613769 REVIEWED 1601953 RGPD5 RANBP2-like and GRIP domain containing 5 RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene shares a high degree of sequence identity with RANBP2, a large RAN-binding protein localized at the cytoplasmic side of the nuclear pore complex. It is believed that this RANBP2 gene family member arose from a duplication event 3 Mb distal to RANBP2. Alternative splicing has been observed for this locus and two variants are described. Additional splicing is suggested but complete sequence for further transcripts has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q13 1 2785 + 110550335 110615268 + 109760709 109857691 + 6480464 10101573;11230166;11774384;12905863;14702039;15710750;15815621;18187620;19615732;20360068;21890473;21906983;21963094;21988832;22505724;23000965;24816145;9480752 84220 C9J1P2;C9J1W9;C9J6W1;H0YBN8;Q99666;V9HWE4 AB209082;AC013271;AC074387;AL044843;AL136868;BU631831;CA446006;CR936614;EU794682;NM_005054;NM_032260;U64675;XM_005263819;XM_005263820;XM_005263821;XM_005263822;XM_006712794 AAB41848;AAI48414;AAY14902;ACJ13736;BAD92319;CAB66802;CAI56757;NP_005045;NP_115636;Q99666;XP_005263876;XP_005263877;XP_005263878;XP_005263879;XP_006712857 Hs.469630 5015879;5016478;5016895;5024402;5091929;5109585;5124960 D2S1552E;D2S2897;GDB:314949;GDB:434012;RH16188;RH35930;WI-15297 BS-63;BS63;DKFZp686I1842;HEL161;RGP5;RGPD6 OTTHUMP00000161611;OTTHUMP00000161612;RANBP2-like and GRIP domain-containing protein 5;RANBP2-like and GRIP domain-containing protein 5/6;RANBP2-like and GRIP domain-containing protein 6;epididymis luminal protein 161;ran-binding protein 2-like 1;ran-binding protein 2-like 1/2;ran-binding protein 2-like 2;ranBP2-like 1;ranBP2-like 1/2;ranBP2-like 2;ranBP2L1;ranBP2L2;sperm membrane protein BS-63 APPROVED protein-coding ENSG00000015568 HGNC:32418 04128 612708 REVIEWED 5129393 RGS17P1 regulator of G-protein signaling 17 pseudogene 1 13 13 13 q14.11 22624318 22624913 - 41566872 41567467 - 40992736 40993331 - 100128628 ABBA01021283;AL157877;AMYH02027915;NG_011456 pseudo HGNC:39729 INFERRED 1343291 RGS16 regulator of G-protein signaling 16 The protein encoded by this gene belongs to the 'regulator of G protein signaling' family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. [provided by RefSeq, Jul 2008] 1 1 1 q25-q31 155678992 155684782 - 182567758 182573548 - 182598623 182604413 - 1580863;6480464 10072511;10373502;10747990;10760272;10791963;10836135;10878019;11522288;11602604;12477932;12588871;12642592;12642593;14634662;15215290;15489334;15998835;16344560;17347170;17613536;17635928;18262772;18521847;19509421;19760045;20571966;20627871;21135262;21988832;23248035;23354309;8917514;9079700;9223279;9271201;9469939 6004 O15492 ABBA01027763;AF009356;AF493937;AK301261;AK311880;AL353778;AMYH02002275;AW193671;BC006243;BT006638;CH471067;DA060276;DC349953;HI574082;NM_002928;U70426;U94829 AAC16912;AAC39642;AAC52040;AAH06243;AAM12651;AAP35284;BAG34821;BAG62827;CBX47530;EAW91129;NP_002919;O15492 Hs.413297 1679257;1796670;2136116;5126237 RGS16_778;RH70699;RH98871;SHGC-76000 A28-RGS14;A28-RGS14P;RGS-R;hRGS-r OTTHUMP00000033147;regulator of G-protein signalling 16;retinal-specific RGS;retinally abundant regulator of G-protein signaling APPROVED protein-coding ENSG00000143333 HGNC:9997 03945 602514 REVIEWED 733515 RGS14 regulator of G-protein signaling 14 This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 171701669 171716413 - 176784704 176799599 + 177357711 177372598 + 1580863;6480464 10926822;10953050;11387333;11829488;11976690;12477932;12534294;14702039;15489334;15525537;15917656;16189514;17603074;17635935;18029348;19636837;19878719;19899154;20383146;20627871;20842066;21044950;21832049;21833088;21880739;21988832;22379092;22396660;22703881;22797727;22807448;23128233;23255434;24068962;9168931 10636 B3KUX0;H0Y8W3;O43566 ABBA01033457;AC146507;AF037194;AF037195;AF493936;AI623584;AK098150;AK123382;AMYH02012835;AMYH02012836;AY987041;BC014094;BI752372;CH471195;NM_006480;XM_005265794;XM_005265795 AAB92613;AAB92614;AAH14094;AAM12650;AAY26402;ADZ15921;BAC85600;BAG53582;EAW85011;EAW85012;EAW85013;NP_006471;O43566;XP_005265851;XP_005265852 Hs.9347 2120555;2217906 D5S1624E;RGS14_3061 OTTHUMP00000223586;OTTHUMP00000223587;regulator of G-protein signalling 14 APPROVED protein-coding ENSG00000169220 HGNC:9996 03944 602513 REVIEWED 1313587 RGS17 regulator of G-protein signaling 17 This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008] 6 6 6 q25.3 154065698 154186885 - 153332026 153452389 - 153006097 153131256 - 1580863;6480464 10419452;11829488;12477932;12826607;14574404;14992813;15096504;15489334;18676680;19170196;19244110;19351763;19625176;19692168;20306291;20379614;20420807;20453000;21044322;21139048;21620966;21988832;22006218;22591552;23088713;23535732;24250222;24561123 26575 Q9UGC6 AA902430;ABBA01025611;ABBA01025612;ABBA01025613;ABBA01025614;AF202257;AF493938;AL080276;AL356787;AL356963;AMYH02014748;AMYH02014749;AMYH02014750;BC013117;BT006997;CH471051;CK902282;CS300704;NM_012419;XM_006715460 AAF08978;AAH13117;AAM12652;AAP35643;CAK32368;EAW47711;NP_036551;Q9UGC6;XP_006715523 Hs.166313 1703728;2107549 RGS17_3211.2;SHGC-78907 RGS-17;RGSZ2;hRGS17 OTTHUMP00000017460 APPROVED protein-coding ENSG00000091844 HGNC:14088 06223 607191 REVIEWED 1604849 RGS13 regulator of G-protein signaling 13 The protein encoded by this gene is a member of the regulator of G protein signaling (RGS) family. RGS family members share similarity with S. cerevisiae SST2 and C. elegans egl-10 proteins, which contain a characteristic conserved RGS domain. RGS proteins accelerate GTPase activity of G protein alpha-subunits, thereby driving G protein into their inactive GDP-bound form, thus negatively regulating G protein signaling. RGS proteins have been implicated in the fine tuning of a variety of cellular events in response to G protein-coupled receptor activation. The biological function of this gene, however, is unknown. Two transcript variants encoding the same isoform exist. [provided by RefSeq, Jul 2008] 1 1 1 q31.2 165715071 165739113 + 192605268 192629441 + 192636138 192660311 + 6480464 11829488;11875076;12193720;12477932;12970790;15489334;16565322;16710414;19017978;20468064;20627871;20974683;21531726;8602223 6003 O14921 ABBA01027643;AF030107;AF493935;AL136454;AL596119;AMYH02002377;AY562947;BC016667;BC036950;BC056866;BT006929;BU942880;CH471067;CR536532;NM_002927;NM_144766 AAB84000;AAH16667;AAH56866;AAM12649;AAP35575;AAS66360;ABM84747;ABM92258;ABM92259;ABW03620;CAG38769;EAW91229;EAW91230;NP_002918;NP_658912;O14921 Hs.497220 1665219;1685830;1798082 RGS13_2430;RH98634;SHGC-76069 MGC17173 OTTHUMP00000033593;regulator of G-protein signalling 13 APPROVED protein-coding ENSG00000127074 HGNC:9995 06222 607190 REVIEWED 1315187 RGS18 regulator of G-protein signaling 18 This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 1 1 1 q31.2 165237273 165264630 + 192127592 192154945 + 192158462 192185815 + 1580863;6480464;8554872 11042171;11342430;11563974;11829488;11955952;12477932;12665801;14702039;14992813;15489334;16484797;16710414;20379614;20468064;20627871;21832049;22210881;22234696 64407 Q9NS28 ABBA01027647;AF076642;AF268036;AK057114;AK292015;AK315377;AL513175;AL596342;AMYH02002374;AV715708;BC020632;CH471067;CS300612;NM_130782 AAF80227;AAH20632;AAK58589;ABM82319;ABM85495;BAF84704;BAG37770;BAG51866;CAK32276;EAW91223;NP_570138;Q9NS28 Hs.440890 1717967;1750447;1796672;5492174 RGS18_780;RH122810;Rgs16;SHGC-111760 RGS13 OTTHUMP00000033590;regulator of G-protein signalling 13;regulator of G-protein signalling 18 APPROVED protein-coding ENSG00000150681 HGNC:14261 06224 607192 REVIEWED 732128 RGN regucalcin The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] X X X p11.3 51129720 51148035 + 46937775 46952712 + 47078355 47093314 + 6480464;6907045 10360682;10677570;11944989;12477932;12619687;15247044;15358188;15489334;15502314;15604093;15714273;15772651;15962315;18507831;19214710;19347872;19690176;19801822;19946731;20152811;20329768;20590846;21047503;21347421;21431902;21526343;21680783;21684279;21687737;22121208;22652898;23349732;23453039;23692083;24975685;7548213;8125298;9753637;9920722 9104 Q15493;V9HWF8 AB028125;AB032064;ABBA01052296;ABBA01052297;AK223360;AK290136;AL513366;AMYH02039267;AMYH02039268;AMYH02039269;BC050371;BC058880;BC073173;CH471164;D31815;EU794655;HY260443;NM_001282848;NM_001282849;NM_004683;NM_152869;XM_006724567;XM_006724568 AAH50371;AAH73173;ACJ13709;BAA06602;BAA78693;BAA84082;BAD97080;BAF82825;EAW59279;EAW59280;NP_001269777;NP_001269778;NP_004674;NP_690608;Q15493;XP_006724630;XP_006724631 Hs.77854 2108423;2146097 RGN_8898;RH12606 GNL;HEL-S-41;RC;SMP30 OTTHUMP00000023195;OTTHUMP00000023196;SMP-30;epididymis secretory protein Li 41;gluconolactonase;senescence marker protein 30;senescence marker protein-30 APPROVED protein-coding ENSG00000130988 HGNC:9989 02196 300212 REVIEWED 1321340 RGS11 regulator of G-protein signaling 11 The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2013] 16 16 16 p13.3 518212 525816 - 318300 325941 - 268301 275943 - 1580863;6480464;8554872 10339615;11157797;11829488;12477932;12606627;14702039;15616553;18468998;19460752;19497306;20139978;20453000;20627871;22939624;24561123;8889548;9315921;9789084 8786 B7Z1X0;B7Z285;H7C5Z0;O94810;Q4TT70 AB016929;AB209582;ABBA01030381;AC004754;AE006463;AF035153;AF035154;AK091701;AK293564;AK294448;AK308972;AMYH02031185;BC040504;BC141803;CH471112;CK299324;DC423811;KF510418;NM_001286485;NM_001286486;NM_003834;NM_183337;XR_429649;Z69667 AAC69175;AAC69176;AAH40504;AAI41804;AAI48400;AAI53020;AAK61221;BAA74751;BAD92819;BAH11537;BAH11771;CAI95581;CAI95582;CAI95583;EAW85839;EAW85840;EAW85841;EAW85842;EAW85843;NP_001273414;NP_001273415;NP_003825;NP_899180;O94810 Hs.65756 1681060;1736586;1799812;1802368;1804778;1805468;1808658;1814346;1819016;1820840;1821192;2048366;2048368;2048370;2048372;2048374;2048376;2048378;2048380;2048382;2048384;2048386;2048388;2048390;2048392;2048394;2048396;2048398;2048400;2048402;2048404;2048406;2048408;2048410;2048412;2048414;2048416;2048418;2048420;2048422;2048424;2048426;2048428;2048430;2048432;2048434;2048436;2048438;2048440;2048442;2048444;2104570;2104572;2104574;2104576;2104578;2104580;5037552 D16S2581E;D8S2279;ECD00760;ECD02068;ECD03322;ECD03682;ECD05311;ECD08202;ECD10574;ECD11496;ECD11673;REN95321;REN95322;REN95323;REN95324;REN95325;REN95326;REN95327;REN95328;REN95329;REN95330;REN95331;REN95332;REN95333;REN95334;REN95335;REN95336;REN95337;REN95338;REN95339;REN95340;REN95341;REN95342;REN95343;REN95344;REN95345;REN95346;REN95347;REN95348;REN95349;REN95350;REN95351;REN95352;REN95353;REN95354;REN95355;REN95356;REN95357;REN95358;REN95359;REN95360;RH98690;stSG608991;stSG608992;stSG608993;stSG608994;stSG608995;stSG608996 RS11 OTTHUMP00000067354;OTTHUMP00000067355;OTTHUMP00000067356;regulator of G-protein signalling 11 APPROVED protein-coding ENSG00000076344 HGNC:9993 04872 603895 REVIEWED 1353904 RGS19 regulator of G-protein signaling 19 G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 59390619 59397513 - 62704534 62711356 - 64073181 64080003 - 1580863;6480464;8554872 10359779;10364213;10452897;10760272;10760275;10906137;10993892;11090272;11251075;11780052;11829488;11956658;12477932;12507475;12826607;14617818;15356268;15489334;15761153;18360038;19294699;20468064;21139048;21705135;21900206;21906983;22045062;23416464;23799031;24250222;8524874;8986788;9305927;9571244;9748280;9770488 10287 B4DP94;P49795;Q9H2T9 ABBA01021439;AF217688;AF285096;AF285097;AF493939;AK290081;AK298240;AL590548;AMYH02037482;AY585188;BC001318;BC054337;BC063010;BM554550;BT009804;CH471077;CR457430;NM_001039467;NM_005873;X91809;XM_005260182;XM_005260183 AAG42352;AAH01318;AAH54337;AAH63010;AAM12653;AAP88806;AAS94232;ABM82130;ABM85313;BAF82770;BAG60506;CAA62919;CAG33711;EAW75166;EAW75167;NP_001034556;NP_005864;P49795;XP_005260239;XP_005260240 Hs.422336 1683144;1798084;5113067 RGS19_2465;RH38937;RH39038 GAIP G alpha interacting protein;G protein signalling regulator 19;G-alpha-interacting protein;OTTHUMP00000031632;RGSGAIP;guanine nucleotide binding protein alpha inhibiting activity polypeptide 3 interacting protein;regulator of G-protein signalling 19 APPROVED protein-coding ENSG00000171700 HGNC:13735 05461 605071 REVIEWED 732360 RGS2 regulator of G-protein signaling 2 Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009] 1 1 1 q31 165887766 165891002 + 192778169 192781407 + 192809039 192812277 + 1580863;5133418;6480464;7207227;8549594 12239094;12588881;22685433 10072511;10747990;10760272;10791963;10982407;11063746;11278586;11330340;12176127;12356577;12477932;12564955;12604604;12885252;14608379;15292363;15362969;15375002;15383626;15489334;15536149;15609325;15793568;15917235;16003176;16169070;16189514;16432041;16449965;16627589;16685212;16691626;16710414;16736243;16895908;1702972;17143182;17220356;17244887;17294519;17353931;17558307;17728697;17901199;18067675;18230714;18249218;18262772;18316676;18347610;18360038;18398336;18496125;18663369;18833580;19023274;19064631;19155782;19156702;19162436;19175184;19243996;19427970;19478087;19626040;19778949;19813112;19913121;19931593;19948975;20001967;20032508;20140863;20375904;20403096;20453000;20468064;20627871;20628086;20628624;20633139;20662725;20847599;20981351;21041608;21291998;21438143;21451528;21500190;21529451;21779398;21900206;21988832;22057271;22080612;22695717;22704538;23277133;23339167;23349832;23464602;23587726;23859711;23870195;24297163;24299002;24561123;24593135;7643615;8179820;8602223;8673468;9079700;9174164;9405622;9794454 5997 P41220;Q49A86 ABBA01027642;AF493926;AK313668;AL035407;AMYH02002377;AY971351;BC007049;BC042755;BC044742;BI912389;BT007065;CD700013;CH471067;CR457410;L13391;L13463;NG_012800;NM_002923 AAA20680;AAC37587;AAH07049;AAH42755;AAM12640;AAP35728;AAY40361;ABM84104;ABM87477;BAG36420;CAG33691;EAW91231;EAW91232;NP_002914;P41220 Hs.78944 1701654;1712130;1773505;1793540;1796678;2138647;2162655;5118077 D1S2392;G54115;GDB:683288;PMC229255P4;RGS2_386;RH104484;RH69011;SHGC-76063 G0S8 G0 to G1 switch regulatory 8, 24kD;G0/G1 switch regulatory protein 8;OTTHUMP00000033592;cell growth-inhibiting gene 31 protein;cell growth-inhibiting protein 31;regulator of G-protein signaling 2, 24kDa;regulator of g-protein signaling protein 2 APPROVED protein-coding ENSG00000116741 HGNC:9998 02917 600861 REVIEWED 1353958 RGS21 regulator of G-protein signaling 21 Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination.[supplied by OMIM, Nov 2008] 1 1 1 q31.2 165395907 165446198 + 192286122 192336415 + 192316992 192367285 + 8554872 15066150;16302027;22763476;23095746 431704 Q2M5E4 ABBA01027646;AL357566;AL390957;AMYH02002375;AY643711;NM_001039152 AAI48463;AAI53060;AAT64913;NP_001034241;Q2M5E4 Hs.558673 1715793;2173566 AL009714;RH119345 OTTHUMP00000225020;regulator of G-protein signalling 21 APPROVED protein-coding ENSG00000253148 HGNC:26839 612407 VALIDATED 731521 RGS12 regulator of G-protein signaling 12 This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 3227025 3352526 + 3315874 3441640 + 3292978 3439913 + 6480464;7207227;8554872 12239094 10869340;10911908;11130074;11387333;11771424;11829488;12024043;12461749;12477932;15324660;17042716;17124247;17370265;17380122;19851296;20198315;20627871;21145461;21822266;8889548;9168931;9651375 6002 E9PBG5;O14924 ABBA01029469;ABBA01029470;ABBA01029471;ABBA01029472;ABBA01029473;AF030109;AF030110;AF030111;AF030112;AF030149;AF035152;AF464735;AF464736;AF464737;AI870015;AK123325;AK290805;AK293767;AK301510;AK303135;AK308734;AK310999;AL590235;AL645949;AMYH02008630;AMYH02008631;AMYH02008632;AY987042;BC012118;BC028154;BC106944;BC118594;BE048490;BI861043;BM718427;BM984992;CB242608;CB529269;CH471131;NG_029903;NM_002926;NM_198227;NM_198229;XM_006713905;XM_006713906;XM_006713907;XR_427479 AAB84007;AAB84114;AAB84186;AAB84187;AAB96644;AAB96645;AAB96646;AAC39835;AAH28154;AAI06945;AAI18595;AAI67850;AAL69959;AAL69960;AAL69961;AAY26403;BAF83494;BAG53889;BAH11592;BAH13500;BAH13904;EAW82465;EAW82466;EAW82467;EAW82468;EAW82469;EAW82470;EAW82471;EAW82472;NP_002917;NP_937870;NP_937872;O14924;XP_006713968;XP_006713969;XP_006713970 Hs.527061 1337448;1341533;1672697;1683375;1772653;2125355;2161707;5015861;5016897;5022200;5109281;5123849;7187410 D10S16;D1S1425;D4S3034;D4S412;D4S523;D4S835;G01857;L18426;RH92254;SHGC-67292;WI-11720;WI-15158 DKFZp761K1617;DKFZp761K1817 OTTHUMP00000115311;OTTHUMP00000115312;OTTHUMP00000151172;regulator of G-protein signalling 12 APPROVED protein-coding ENSG00000159788 HGNC:9994 03943 602512 REVIEWED 1606803 RGS22 regulator of G-protein signaling 22 INVOLVED IN termination of G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH dibutyl phthalate (ortholog); lead diacetate (ortholog) 8 8 8 q22.2 97158760 97303753 - 100973164 101118344 - 99960936 100106116 - 6480464;8554872 12477932;14702039;15489334;18703424;20379614;20627871;21533872;24403052;8889548 26166 E5RFV6;E5RGJ7;E5RHE4;E5RJ23;G3V112;H0YBV2;Q8NE09 ABBA01037561;ABBA01037562;AC021590;AK097399;AK292559;AK302475;AK309194;AL117544;AMYH02018497;AMYH02018498;AMYH02018499;AMYH02018500;AP005356;AY009106;BC036665;BC047060;BC050053;BC092411;BM684810;CH471060;NM_001286692;NM_001286693;NM_015668;XM_005250856;XM_005250857;XM_005250858;XM_005250859;XM_005250860;XM_006716540;XM_006716541;XR_428378 AAG49397;AAH36665;AAH47060;AAH92411;BAF85248;BAG53465;BAG63763;CAB55986;EAW91794;EAW91795;EAW91796;EAW91797;NP_001273621;NP_001273622;NP_056483;Q8NE09;XP_005250913;XP_005250914;XP_005250915;XP_005250916;XP_005250917;XP_006716603;XP_006716604 Hs.120021 CT145;DKFZp434I092;FLJ40080;FLJ75004;MGC102908;PRTD-NY2 OTTHUMP00000227557;OTTHUMP00000227558;OTTHUMP00000227559 protein-coding ENSG00000132554 HGNC:24499 13155 615650 VALIDATED 70082 RGS4 regulator of G-protein signaling 4 Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulate signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q23.3 136142715 136150908 + 163038396 163046592 + 163068606 163076802 + 69961;1580863;6480464;7207227;8549594 12239094;22685433;8602223 10387017;10608901;10685342;10747990;10767329;10784452;10791963;10869340;10982407;11148035;11297424;11428836;11507164;11904384;12023979;12422374;12436019;12477932;12564955;12642592;12840049;12920194;14634662;14702039;14732600;14755443;15182322;15274033;15369705;15381923;15383626;15489334;15660667;16082709;16176390;16246308;16344560;16380905;16508931;16526029;16604300;16631129;16710414;16791139;16860780;16904822;16905560;17006672;17055463;17092693;17106420;17185339;17220356;17301167;17408693;17410640;17515439;17588543;17707117;17722013;18031991;18198266;18204343;18262772;18434012;18443239;18470533;18583979;18584117;18622782;18804346;18834502;19041089;19059885;19201815;19282471;19324084;19367581;19416973;19460752;19536175;19549919;19913121;19937977;20414142;20430014;20627871;20628086;20630860;20712983;20816714;21041608;21209077;21674833;21910931;22157635;22253691;22753418;23093381;23332465;23630294;23733193;23911251;24009623;24297163;8756726;9405622;9576926;9660808;9674973;9748280;9754621 5999 E9PR32;E9PS05;P49798 AB209019;ABBA01047300;AF493928;AK093959;AK096204;AK295540;AK296240;AK300832;AK312250;AL137433;AL583850;AMYH02002045;AMYH02002046;BC000737;BC051869;BI547160;BT007025;CH471067;DA253378;DA660018;DA660695;DC318279;DC334933;DQ346662;DQ346663;DQ346664;EF054877;NG_023312;NM_001102445;NM_001113380;NM_001113381;NM_005613;U27768 AAC50395;AAH00737;AAH51869;AAM12642;AAP35671;ABC94590;ABC94591;ABC94592;ABL74968;BAD92256;BAG35182;BAG58449;BAG58958;BAG62483;EAW90727;EAW90728;EAW90729;NP_001095915;NP_001106851;NP_001106852;NP_005604;P49798 Hs.386726 1298129;1299889;1331565;1331568;1336310;1338626;1338728;1341627;1341913;1342100;1643814;1653512;1664990;1666721;1796682;2149361;2166053;5015520;5097205 A003B46;AA004315;D1S1599;D1S1622;D1S1631;D1S1653;D1S1656;D1S1677;D1S1679;D1S196;D1S3723;D1S534;D1S551;G29255;HSC1YC112;IB1262;RGS4_784;RH12512;SHGC-32116 DKFZp761F1924;MGC2124;MGC60244;RGP4;SCZD9 OTTHUMP00000032322;OTTHUMP00000032323;OTTHUMP00000032324;OTTHUMP00000228806;OTTHUMP00000228807;OTTHUMP00000228931;OTTHUMP00000228932;regulator of G-protein signalling 4;regulator of g protein signaling 4;schizophrenia disorder 9 APPROVED protein-coding ENSG00000117152 HGNC:10000 03947 602516 REVIEWED 1604905 RGS7BP regulator of G-protein signaling 7 binding protein This gene encodes a protein that binds to all members of the R7 subfamily of regulators of G protein signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded protein could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012] 5 5 5 q12.3 60799299 60904990 + 63801774 63909285 + 64505947 64612299 + 6480464;8554872 12477932;15632198;16867977;19042037;19497306;20379614;21457877;21511947 401190 B4DKB7;Q6MZT1 ABBA01048339;ABBA01048340;AC008854;AC035143;AC091862;AK294808;AK296443;AK296494;AMYH02011417;BC140707;BX640900;CH471137;DA211241;DA404068;DA417118;DC342795;NM_001029875;NM_001271890;NM_001271891;NR_073511;XM_005248502;XM_006714614 AAI40708;BAG57927;BAG59129;BAH12357;CAE45947;EAW51372;NP_001025046;NP_001258819;NP_001258820;Q6MZT1;XP_005248559;XP_006714677 Hs.657133 1659014;1671400;1701194;2111081;2138105;2141032;2156040;5015348 AFMA053ZG9;BCD1181;D5S1630E;D5S2470;D5S567E;GDB:1317910;RH104225;SGC30694 R7BP OTTHUMP00000221855;R7 binding protein;R7 family-binding protein;regulator of G-protein signaling 7-binding protein;regulator of G-protein signalling 7 binding protein protein-coding ENSG00000186479 HGNC:23271 610890 REVIEWED 737105 RGS8 regulator of G-protein signaling 8 This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [provided by RefSeq, Jul 2008] 1 1 1 q25 155727019 155753291 - 182613036 182653502 - 182643901 182674743 - 1580863;6480464 11318611;11329013;11829488;12110731;12477932;14675160;14992813;15488175;15489334;15506959;15677457;16710414;17207965;18262772;18834863;20379614;20627871;21135262;24561123 85397 D6RD36;P57771 ABBA01027762;AF297014;AF297015;AF300649;AK294660;AK296514;AL353778;AMYH02002275;AX300745;BC069677;BC069718;BC103865;BC103866;BC103867;BG195915;BX281622;CH471067;NM_001102450;NM_033345;XM_005245555;XM_006711597 AAG18443;AAG45337;AAH69677;AAH69718;AAI03866;AAI03867;AAI03868;ADQ32868;BAG57830;BAG59146;CAD13037;EAW91130;EAW91131;NP_001095920;NP_203131;P57771;XP_005245612;XP_006711660 Hs.20982;Hs.458417 1735418;1769503;1771804;2134126;2185944 AL009436;AL009444;D1S1861E;SHGC-75974;SHGC-76017 MGC119067;MGC119068;MGC119069 OTTHUMP00000033156;OTTHUMP00000217395;OTTHUMP00000217396;OTTHUMP00000217398;regulator of G-protein signalling 8 APPROVED protein-coding ENSG00000135824 HGNC:16810 06221 607189 REVIEWED 736970 RGS6 regulator of G-protein signaling 6 This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011] 14 14 14 q24.3 52462976 53096417 + 72398817 73033238 + 71932100 72566530 + 1580863;6480464;8549594;8554872 22685433 10083744;10339615;10521509;12140291;12477932;12761220;12761221;14702039;14734556;15375002;16691626;18676680;19170196;19625176;19692168;19834535;20379614;20453000;20811658;21041304;21233807;21300955;21935397;22566634;22939624;24324551;24529757;7596406 9628 B7Z2A0;B7Z2N1;B7Z7N5;P49758;Q2M3K2 AB209462;ABBA01030786;ABBA01030787;ABBA01030788;ABBA01030789;AC004828;AC005157;AC005226;AC005227;AC005477;AC005533;AC005857;AC005993;AF073920;AF073921;AF107619;AF107620;AF156932;AF465726;AF465727;AK125540;AK294486;AK294895;AK302319;AK310463;AK313481;AMYH02029472;AMYH02029473;AMYH02029474;AY309097;AY309098;AY309099;AY309100;BC104877;BC113572;BC143699;BX096120;BX537512;CH471061;DC343081;KF455935;L40394;NG_029236;NM_001204416;NM_001204417;NM_001204418;NM_001204419;NM_001204420;NM_001204421;NM_001204422;NM_001204423;NM_001204424;NM_004296;XM_005268234;XM_005268235;XM_005268236;XM_006720327;XM_006720328;XM_006720329;XM_006720330;XM_006720331;XM_006720332;XM_006720333;XR_429335 AAC26049;AAC26050;AAC42001;AAC83180;AAD05031;AAD34717;AAD34718;AAD40183;AAI04878;AAI13573;AAM03004;AAM03005;AAM03006;AAM03007;AAM03008;AAM03009;AAM03010;AAM03011;AAM03012;AAM03013;AAP74386;AAP74387;AAP74388;AAP74389;ADR83192;BAD92699;BAG36265;BAH11786;BAH11917;BAH13671;EAW81062;EAW81063;EAW81064;EAW81065;EAW81066;EAW81067;EAW81068;EAW81069;EAW81070;EAW81071;NP_001191345;NP_001191346;NP_001191347;NP_001191348;NP_001191349;NP_001191350;NP_001191351;NP_001191352;NP_001191353;NP_004287;P49758;XP_005268291;XP_005268292;XP_005268293;XP_006720390;XP_006720391;XP_006720392;XP_006720393;XP_006720394;XP_006720395;XP_006720396 Hs.509872 1341506;1647451;1650128;1651005;1662752;1664807;1667892;1668374;1668445;1671067;1671183;1672883;1674658;1679678;1688753;1696752;1701228;1704048;1706328;1714599;1716621;1722073;1738937;1740703;1740705;1745889;1753529;1759129;1773782;1775074;1796686;1852035;1858010;2112146;2119755;2121587;2128412;2132059;2135926;2136468;2143103;2144685;2145327;2146869;2150292;2151934;2154847;2155333;2156369;2158265;2160716;2162204;2163388;2168151;2170002;2171259;2171717;2175326;2177880;2181809 A005E46;A047WF5;D12S831;D14S1181;D14S1182;D14S1371;D14S277;D14S787;D14S912;D9S1990;G31413;G35548;G35605;G35709;G36235;G38060;G38061;G38069;G38070;G38071;G38073;G38075;G38088;G38140;G38141;G38259;G38263;G38264;G38266;G38270;G38274;G38275;G38278;G38279;G38337;G60076;GDB:681455;RGS6_788;RH104242;RH119814;RH121567;RH15747;RH44624;RH45338;RH45686;RH66044;RH70438;RH76013;RH78916;RH93225;SHGC-107399;SHGC-151129;SHGC-34891;SHGC-37117;SHGC-52498;SHGC-77849;SHGC-77937;SHGC-80729;WI-11724;WI-18648 DKFZp313G1241;FLJ43552;GAP;H_DJ0283M22.1;H_DJ1108A12.1;MGC142132;S914 G protein signaling 6 regulator;GTPase activating protein;OTTHUMP00000245839;OTTHUMP00000245840;OTTHUMP00000245841;OTTHUMP00000245842;OTTHUMP00000245843;OTTHUMP00000245844;OTTHUMP00000245845;OTTHUMP00000245846;OTTHUMP00000245847;OTTHUMP00000245848;OTTHUMP00000245849;WUGSC:H_DJ0283M22.1;WUGSC:H_DJ1108A12.1;regulator of G protein signaling 6;regulator of G protein signalling 6;regulator of G-protein signalling 6 APPROVED protein-coding ENSG00000182732 HGNC:10002 603894 REVIEWED 732260 RGS9 regulator of G-protein signaling 9 This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 17 q24 59704785 59795215 + 63133456 63223821 + 65137338 65227703 + 69964;1580863;1599999;6480464;6893539;6907045;7240710;8554872 14702087;22074925;9765512 10564809;11485301;12119397;12477932;14614075;15474482;15901556;16867977;17698770;18548510;19156168;19818506;19948975;20016399;20374717;20379614;20467438;20477943;20627871;21511947;22006018;22132185;22505724;23857581;24561123;8889548;9560279 8787 A8K1G1;E9PD91;J3QL70;O75916 ABBA01029050;AC015821;AC060771;AF071476;AF073710;AF178070;AF178072;AF493932;AF493933;AK289876;AK290535;AK301719;AK309061;AMYH02033803;AMYH02033804;AY585190;AY585191;BC022504;BC096843;BC117271;CD105605;CH471099;CK300804;DC322215;KF456305;NG_013021;NM_001081955;NM_001165933;NM_003835 AAC25430;AAC64040;AAG09311;AAG09312;AAH22504;AAH96843;AAM12646;AAM12647;AAT79493;AAT79494;BAF82565;BAF83224;BAG63190;EAW88997;EAW88998;EAW88999;EAW89000;EAW89001;EAW89002;NP_001075424;NP_001159405;NP_003826;O75916 Hs.664380 1680457;1717017;2127059 D17S1695;RH124037;RH99108 MGC111763;MGC26458;PERRS;RGS9L regulator of G-protein signalling 9 APPROVED protein-coding ENSG00000108370 HGNC:10004 04962 604067;608415 REVIEWED 1601793 RGS9BP regulator of G protein signaling 9 binding protein The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia. [provided by RefSeq, Mar 2010] 19 19 19 q13.11 29859945 29862839 + 33166313 33169206 + 32675407 32678300 + 6480464;6893539;7240710;8554872 22074925 12119397;12560335;14702087;17698770;18318613;19818506;19948975;21511947;23377640;8889548 388531 Q6ZS82 ABBA01039599;AC008474;AF086461;AK124499;AK127646;AMYH02035920;NG_016751;NM_207391 AAI72343;BAC85865;BAC87072;NP_997274;Q6ZS82 Hs.528491 2121903;5015961;5022651 D11S2921;D15S1477;SHGC-57769 FLJ45744;PERRS;R9AP;RGS9 RGS9 anchor protein;RGS9-anchoring protein;regulator of G-protein signaling 9-binding protein APPROVED protein-coding ENSG00000186326 HGNC:30304 16991 607814;608415 REVIEWED 1353178 RGSL1 regulator of G-protein signaling like 1 INVOLVED IN termination of G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cadmium atom; silicon dioxide 1 1 1 q25 155530353 155640967 + 182419256 182529732 + 182450121 182560597 + 1302836;6480464;8554872 12801632 11181995;11230166;12477932;12651916;14702039;15489334;16344560;16710414;18521847;20574532;21135262;21145461;23248035 353299 A5PLK6;H3BNQ0;H3BNR3;H3BNS3;H3BRN5;H3BU64;H3BVE8 ABBA01027763;ABBA01027764;ABBA01027765;AF508902;AF510428;AK128152;AK302768;AL136902;AL138776;AL139344;AMYH02002272;AMYH02002273;AMYH02002274;AMYH02002275;BC121032;BC121033;BC142944;CH471067;DB097250;NM_001137669;XM_005245137 A5PLK6;AAI42945;AAP30864;BAC87300;BAH13800;CAB66836;EAW91125;EAW91126;EAW91127;NP_001131141;XP_005245194 Hs.121200 5014051;5022200;5037552;5491711 D8S2278;D8S2279;L18426;RH124538 DKFZp434E169;RGSL;RGSL2 regulator of G-protein signaling like 2;regulator of G-protein signaling protein-like protein-coding ENSG00000121446 HGNC:18636 17971 611012 VALIDATED 1353853 RGSL2 regulator of G-protein signaling like 2 q25.3 1302836;1580863 12801632 11230166;12651916 84227 AL136902;AL139344;CH471067;DB452397;NM_032267 CAB66836;EAW91125;EAW91126;EAW91127;NP_115643;Q9H084 Hs.558567 DKFZp434E169 protein-coding HGNC:18635 17972 733586 RGS7 regulator of G-protein signaling 7 ENCODES a protein that exhibits G-protein beta-subunit binding; INVOLVED IN G-protein coupled receptor signaling pathway (inferred); intracellular signal transduction (inferred); termination of G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol (inferred); dendrite terminus (inferred); heterotrimeric G-protein complex (inferred); INTERACTS WITH copper atom; copper(0); curcumin 1 1 1 q43 214195486 214775530 - 240938817 241520505 - 240775514 241357230 - 69958;1580863;6480464;8554872 8548815 10051672;10092682;10339594;10339615;10521509;10862767;11032900;11152459;12077120;12477932;12659861;12670932;14718574;15496508;16344560;16710414;16867977;17474147;18029348;18762858;19182865;19376773;19626040;19913121;20379614;20627871;20628086;21343290;22939624;23054467;23251661;23857581;9572280;9789084 6000 B7Z223;B7Z257;P49802;Q5T3H5 ABBA01033239;ABBA01033240;ABBA01033241;ABBA01033242;ABBA01033243;ABBA01033244;ABBA01033245;ABBA01033246;ABBA01033247;ABBA01033248;AF090116;AF090117;AF493930;AF493931;AK294234;AK294354;AK314862;AL359764;AL365184;AL512307;AL590682;AL592076;AL596082;AMYH02003028;AMYH02003029;AMYH02003030;AMYH02003031;AMYH02003032;AMYH02003033;AMYH02003034;AMYH02003035;AMYH02003036;AMYH02003037;AW872845;AY587875;BC022009;BI547250;CH471098;DA085997;DA605226;DB542821;NM_001282773;NM_001282775;NM_001282778;NM_002924;U32439;XM_005273218;XM_005273221;XM_006711800;XM_006711801 AAC50351;AAD34290;AAD34291;AAH22009;AAM12644;AAM12645;AAT52231;ABM81720;ABM84875;ABM84880;BAH11709;BAH11743;EAW70086;EAW70087;EAW70088;EAW70089;NP_001269702;NP_001269704;NP_001269707;NP_002915;P49802;XP_005273275;XP_005273278;XP_006711863;XP_006711864 Hs.655739 1335710;1649093;1651229;1667438;1693096;1696156;1696552;1718281;1724629;1724809;1755009;1761835;1763023;1764213;1767226;1769792;1781422;1796688;2122930;2134277;2137603;2144894;2153403;2166400;2174055;2180432;5094134;7187949 151XB8;AL009703;AL009723;AL009760;AL010052;AL034269;D0S2243;D1S2168;D1S304;D1S3173;G16321;G29229;G34863;G54565;RGS7_1815;RH121313;RH122912;RH123664;SHGC-111443;SHGC-141957;SHGC-145787;SHGC-146769;SHGC-147849;SHGC-30220;SHGC-32119;SHGC-78151;SHGC-79137 OTTHUMP00000037994;OTTHUMP00000037995;OTTHUMP00000037996;OTTHUMP00000038316;regulator of G-protein signaling RGS7;regulator of G-protein signalling 7 protein-coding ENSG00000182901 HGNC:10003 03948 602517 VALIDATED 1312560 RGS20 regulator of G-protein signaling 20 The protein encoded by this gene belongs to the family of regulator of G protein signaling (RGS) proteins, which are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins inhibit signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound forms. This protein selectively binds to G(z)-alpha and G(alpha)-i2 subunits, and regulates their signaling activities. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 8 8 8 q11.23 50754534 50862294 + 54764368 54871863 + 53851808 53959304 + 1580863;6480464 11735229;11829488;11882662;12379657;12414994;12477932;12826607;14702039;14872136;15488169;15489334;17126529;17353931;17474147;18360038;18407463;20627871;23088713;24250222;24561123;24722188;9748279;9748280 8601 B3KSW4;E5RGA3;E5RH54;H9NIM5;O76081 ABBA01041726;ABBA01041727;ABBA01041728;ABBA01041729;ABBA01041730;ABBA01041731;ABBA01041732;AC100821;AC113194;AF060877;AF074979;AF366054;AF366055;AF366056;AF366057;AF493940;AK094503;AMYH02017995;AY046538;BC015614;BC018618;BC031328;BC054867;BC063490;CH471068;JQ308180;NM_001286673;NM_001286674;NM_001286675;NM_003702;NM_170587;NR_104578;NR_104579 AAC62009;AAC62013;AAH15614;AAH63490;AAK54122;AAK54123;AAK54124;AAK54125;AAL03971;AAM12654;ADR82691;AFF59490;BAG52876;EAW86734;EAW86735;EAW86736;EAW86737;EAW86738;NP_001273602;NP_001273603;NP_001273604;NP_003693;NP_733466;O76081 Hs.368733 1338233;1698596;1722937;1758421;1796676;2157788 D8S1737;G60566;RGS20_782;RH102850;RH45828;SHGC-148290 RGSZ1;ZGAP1;g(z)GAP;gz-GAP OTTHUMP00000227381;OTTHUMP00000227383;OTTHUMP00000227397;gz-selective GTPase-activating protein;regulator of G-protein signaling 20 variant 2;regulator of G-protein signaling Z1;regulator of G-protein signalling 20;regulator of Gz-selective protein signaling 1 APPROVED protein-coding ENSG00000147509 HGNC:14600 06225 607193 VALIDATED 1601951 RHBDD1 rhomboid domain containing 1 ENCODES a protein that exhibits endopeptidase activity; serine-type endopeptidase activity; INVOLVED IN membrane protein proteolysis; negative regulation of apoptotic process; positive regulation of protein catabolic process; FOUND IN endoplasmic reticulum membrane (ortholog); endoplasmic reticulum quality control compartment (ortholog); integral component of endoplasmic reticulum membrane (ortholog); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; cyclosporin A 2 2 2 q36.3 221470201 221633451 + 227700652 227863926 + 226835936 226999210 + 6480464 12477932;12838346;14702039;15489334;15815621;16344560;16751776;17903307;18953687;21139048;22624035;23534782;23669365;23883433;23940030 84236 B9A054;C9J1R4;C9J4C7;C9JAS2;C9JQK8;C9K011;Q8TEB9 ABBA01050187;ABBA01050188;ABBA01050189;AC010735;AC073149;AK026955;AK074258;AK093986;AL512717;AL832364;AMYH02005915;AY640233;BC015553;BC027900;BC062636;BC071679;BC089404;BC101262;BC101263;BC101264;BC101265;BC111056;CA434330;CH471063;DB024396;DQ570409;NM_001167608;NM_032276;XM_005246898;XM_005246899;XM_005246900 AAH27900;AAH62636;AAH89404;AAI01263;AAI01264;AAI01265;AAI01266;AAI11057;AAU14246;AAY24060;ADZ15688;BAB85031;CAC21658;EAW70841;EAW70842;NP_001161080;NP_115652;Q8TEB9;XP_005246955;XP_005246956;XP_005246957 Hs.471514 1337672;1340497;1655497;1676312;1683459;1699546;1716457;1758977;1851651;2144115;2160055;5021564;7186326 D2S1349;D2S159;D2S2081;G02278;RH103372;RH121408;RH68455;RH93567;RH93902;SHGC-151021;SHGC-53082;STS-AA026333 DKFZp547E052;MGC117258;RRP4 OTTHUMP00000164233;rhomboid domain-containing protein 1;rhomboid-like protein 4;rhomboid-related protein 4 protein-coding ENSG00000144468 HGNC:23081 13206 VALIDATED 731598 RHAG Rh-associated glycoprotein The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009] 6 6 6 p12.3 51129020 51160725 - 49572888 49604587 - 49605175 49636874 - 1599622;1580863;6480464;7240710;8699517;8554872 10467273 10862620;11062476;11861637;12130520;12204676;12393442;12477932;12531814;12719424;12846905;1417776;14966114;15572441;15856280;15929723;16227429;16378686;16563829;16564724;16574458;16580865;16866382;17712059;18931342;19273840;21682734;21849667;21883272;22012326;23417980;24077989;3146980;8563755;9442063;9454778;9473510;9479501;9716608;9746795;9915949 6005 Q02094;Q96E98 AB036993;ABBA01050588;ABBA01050589;AF031548;AF031549;AF031550;AF031551;AF061325;AF178841;AF178842;AF178843;AF178844;AF179682;AF179683;AF179684;AF179685;AF179686;AF187847;AF237387;AK313505;AL121950;AL590244;AMYH02013711;BC012605;BU664154;CH471081;KJ543706;NG_011704;NM_000324;X64594 AAC04247;AAC04248;AAC04249;AAC04250;AAD34199;AAD54392;AAD56366;AAD56367;AAD56368;AAF04566;AAF23097;AAF23098;AAF23099;AAF23100;AAF23101;AAF78209;AAH12605;ABM83708;ABM87029;AHY04440;BAB00642;BAG36285;CAA45883;EAX04337;EAX04338;EAX04339;NP_000315;Q02094 Hs.120950 1653790;2132367;2155974;2185474 RH46855;SGC35426;STS-R96373;STS-X64594 CD241;RH2;RH50A;Rh50;Rh50GP;SLC42A1 OTTHUMP00000018001;Rhesus associated polypeptide, 50-KD;Rhesus blood group-associated glycoprotein;ammonium transporter Rh type A;erythrocyte membrane glycoprotein Rh50;erythrocyte plasma membrane 50 kDa glycoprotein;rh family type A glycoprotein;rh type A glycoprotein;rhesus blood group family type A glycoprotein;rhesus blood group-associated a glycoprotein;rhesus blood group-associated ammonia channel APPROVED protein-coding ENSG00000112077 HGNC:10006 01582 180297;268150 REVIEWED 7174873 RHBDF1P1 rhomboid 5 homolog 1 (Drosophila) pseudogene 1 3 3 3 p25.1 14552577 14554517 - 14614359 14616299 - 14572852 14574792 - 131973 ABBA01025157;AC090952;AMYH02006322;NG_022195 1652240;2046788;2167916 REN94523;RH17768;SHGC-57831 pseudo HGNC:44499 INFERRED 1323487 RHBDD3 rhomboid domain containing 3 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN liver development (inferred); MAPK cascade (inferred); negative regulation of natural killer cell activation (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; cobalt dichloride 22 22 22 q12.2 13455708 13463777 - 29655844 29664147 - 29259855 29268085 - 6480464 10591208;12477932;12529303;15105437;15461802;15489334;16196087;17117413;19212622;21555518;21906983;21963094;23535729 25807 B0QYJ1;B0QYJ2;F8WFA9;Q9Y3P4 ABBA01055260;AL031186;AL050346;AMYH02038198;BC002705;BC018872;CH471095;CR456411;CR457382;NM_012265;XM_005261504;XM_006724224 AAH02705;CAB43551;CAG30297;CAG33663;CAK54402;CAK54701;EAW59778;EAW59779;NP_036397;Q9Y3P4;XP_005261561;XP_006724287 Hs.106730 1699028 RH103087 C22orf3;HS984G1A;PTAG OTTHUMP00000199003;pituitary tumor apoptosis;rhomboid domain-containing protein 3 protein-coding ENSG00000100263 HGNC:1308 12800 PROVISIONAL 1312890 RHBDF1 rhomboid 5 homolog 1 (Drosophila) ENCODES a protein that exhibits growth factor binding (inferred); INVOLVED IN cell migration; cell proliferation; negative regulation of protein secretion; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum membrane; Golgi membrane; INTERACTS WITH 17beta-estradiol; 2-methylcholine; afimoxifene 16 16 16 p13.3 309954 324535 - 108058 126354 - 58059 78112 - 6480464;8554872 11157797;12477932;14702039;15965977;16341674;18524845;18832597;20379614;20970119;21906983;24648344;8125298;8318735;9054936 64285 A2IDA2;B8ZZ07;F6XBT0;F8WBS4;F8WCF7;H0Y6L9;Q4TT58;Q96CC6 ABBA01030394;AE006462;AK026010;AK056708;AK225408;AK291177;AK304797;AK304812;AK309097;AMYH02031177;BC014425;BM830007;CH471112;CQ798836;DQ431198;KF456130;KF510416;KF511222;KF511226;M99624;NM_022450;XM_005255494;XM_005255498;XM_006720918;XM_006720919;XM_006720920;XM_006720921;XM_006720922;XR_429644;Z69719;Z69720 AAA02490;AAH14425;AAK61212;ABD95905;BAB15318;BAF83866;BAG51794;BAG65547;BAG65562;CAG27587;CAI95607;CAI95608;CAI95609;CAM26658;CAX15112;EAW85873;EAW85874;EAW85875;EAW85876;NP_071895;Q96CC6;XP_005255551;XP_005255555;XP_006720981;XP_006720982;XP_006720983;XP_006720984;XP_006720985 Hs.744992 1652240;1798652;1798674;1799494;1799646;1801772;1801920;1802858;1804774;1807024;1807502;1807758;1808876;1808878;1809316;1811936;1814264;1814988;1834162;1834556;2046776;2046778;2046780;2046782;2046784;2046786;2046788;2046790;2046792;2046794;2046796;2046798;2046800;2046802;2046804;2046806;2046808;2046810;2046812;2046814;2046816;2046818;2046820;2046822;2046824;2046826;2046828;2046830;2046832;2046834;2046836;2046838;2046840;2046842;2046844;2046846;2046848;2046850;2046852;2046854;2046856;2046858;2046860;2046862;2046864;2046866;2046868;2046870;2046872;2046874;2046876;2046878;2046880;2046882;2046884;2046886;2046888;2046890;2046892;2046894;2046896;2046898;2046900;2046902;2046904;2046906;2046908;2046910;2046912;2046914;2046916;2046918;2046920;2104344;2104346;2104348;2104350;2104352;2104354;2104356;2104358;2167916 ECD00166;ECD00177;ECD00598;ECD00677;ECD01767;ECD01841;ECD02317;ECD03320;ECD04477;ECD04723;ECD04852;ECD05421;ECD05422;ECD05649;ECD06972;ECD08161;ECD08525;ECD18229;ECD18426;REN94517;REN94518;REN94519;REN94520;REN94521;REN94522;REN94523;REN94524;REN94525;REN94526;REN94527;REN94528;REN94529;REN94530;REN94531;REN94532;REN94533;REN94534;REN94535;REN94536;REN94537;REN94538;REN94539;REN94540;REN94541;REN94542;REN94543;REN94544;REN94545;REN94546;REN94547;REN94548;REN94549;REN94550;REN94551;REN94552;REN94553;REN94554;REN94555;REN94556;REN94557;REN94558;REN94559;REN94560;REN94561;REN94562;REN94563;REN94564;REN94565;REN94566;REN94567;REN94568;REN94569;REN94570;REN94571;REN94572;REN94573;REN94574;REN94575;REN94576;REN94577;REN94578;REN94579;REN94580;REN94581;REN94582;REN94583;REN94584;REN94585;REN94586;REN94587;REN94588;REN94589;RH17768;SHGC-57831;stSG608834;stSG608837;stSG608838;stSG608839;stSG608840;stSG608841;stSG608842;stSG608843 C16orf8;Dist1;EGFR-RS;FLJ2235;FLJ22357;gene-89;gene-90;hDist1;iRhom1;p100hRho OTTHUMP00000067140;epidermal growth factor receptor, related sequence;epidermal growth factor receptor-related protein;inactive rhomboid protein 1;rhomboid family 1;rhomboid family 1 (drosophila);rhomboid family member 1 protein-coding ENSG00000007384 HGNC:20561 07027 614403 VALIDATED 1317987 RHBDL2 rhomboid, veinlet-like 2 (Drosophila) The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 37630097 37686048 - 39350614 39407456 - 38885807 38941784 - 1580863;6480464;8554872 11672525;12477932;12820957;14702039;15047175;15489334;16710414;19850051;20080650;21494248;21833011;22267201 54933 B3KUN4;B7Z1Y9;Q9NX52 ABBA01023233;ABBA01023234;ABBA01023235;ABBA01023236;AK097621;AK294115;AL139260;AL714019;AMYH02000822;AW080436;AY126343;BC013103;BC137108;BC137110;BC144476;BC144477;BE876592;BX951305;CH471059;NM_017821 AAH13103;AAI37109;AAI37111;AAM95697;BAG53496;BAH11675;EAX07288;NP_060291;Q9NX52 Hs.524626 1340957;2109757;2152505;5015961;5109281;7187001 D15S1477;D1S1425;D1S432;RHBDL2_9848;SHGC-38080 MGC16997;RRP2 OTTHUMP00000000546;rhomboid (veinlet, Drosophila)-like 2;rhomboid protease 2;rhomboid-like protein 2;rhomboid-related protein 2 APPROVED protein-coding ENSG00000158315 HGNC:16083 07151 608962 REVIEWED 1317887 RHBDD2 rhomboid domain containing 2 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Golgi apparatus; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 7 7 7 q11.23 70376144 70386071 + 75508317 75518244 + 75878999 75888926 + 6480464;8554872 12477932;12838346;12853948;14702039;15489334;16344560;19616622;21139048;21890473;21906983;21963094;21987572;22939629;22965880;22990118;23000965;23386608;24185965;9847074 57414 Q6NTF9;Q9UDT1 ABBA01005894;AC005067;AF226732;AK026590;AMYH02016070;BC006234;BC069017;BG707286;CH471220;DB050147;NM_001040456;NM_001040457;XM_005250511 AAD45959;AAD45960;AAG09733;AAH06234;AAH69017;BAB15503;EAW71773;EAW71774;EAW71775;EAW71776;NP_001035546;NP_001035547;Q6NTF9;XP_005250568 Hs.488827 1659122;1671856;1772987;1772989;2151396;2178760 GDB:4585521;GDB:6028678;NIB730;RH78544;SHGC-2358;WI-14388 NPD007;RHBDL7 H_RG122E10.2a;H_RG122E10.2b;OTTHUMP00000209879;OTTHUMP00000209882;WUGSC:H_RG122E10.2a;WUGSC:H_RG122E10.2b;rhomboid domain-containing protein 2;rhomboid, veinlet-like 7;rhomboid, veinlet-like 7 (drosophila) protein-coding ENSG00000005486 HGNC:23082 11492 615203 VALIDATED 1320182 RHBDF2 rhomboid 5 homolog 2 (Drosophila) ENCODES a protein that exhibits growth factor binding (inferred); serine-type endopeptidase activity (inferred); INVOLVED IN negative regulation of protein secretion (ortholog); ASSOCIATED WITH Abnormality of the mouth (inferred); Autosomal dominant inheritance (inferred); Diffuse palmoplantar hyperkeratosis (inferred); FOUND IN plasma membrane; endoplasmic reticulum membrane (ortholog); INTERACTS WITH 17beta-estradiol; 2-methylcholine; aflatoxin B1 17 17 17 q25.1 71059359 71089884 - 74466975 74497509 - 76470893 76501427 - 6480464;7240710;8554872;8699517 10737800;12477932;12838346;14702039;15060002;15342556;19913121;20628086;21890473;21906983;21963094;22265016;22344671;22638770;8125298 79651 K7EIY3;K7EJ10;K7EJD6;K7EKA3;K7EKI1;K7ELA9;K7EPN8;K7EPV3;K7EQ53;K7EQT5;Q6PJF5 ABBA01028741;ABBA01028742;AC015802;AK025994;AK057882;AK074034;AK225684;AK292135;AK292166;AK303434;AL833680;AMYH02034013;AMYH02034014;AY500247;BC016034;BC035829;BE076010;BM801831;BP284970;BP288209;CH471099;DC337840;DC348660;NG_032852;NM_001005498;NM_024599;XM_005257669;XM_005257670;XM_005257672;XM_006722079;XM_006722080;XM_006722081;XM_006722082 AAH16034;AAH35829;AAS77567;BAB15310;BAB84860;BAF84824;BAF84855;BAH13960;EAW89401;EAW89402;EAW89403;EAW89404;NP_001005498;NP_078875;Q6PJF5;XP_005257726;XP_005257727;XP_005257729;XP_006722142;XP_006722143;XP_006722144;XP_006722145 Hs.464157 1337564;1649157;2190361;5022578;5037552 D17S1817;D17S2239;D1S1423;D8S2279;RH16010 FLJ22341;RHBDL5;RHBDL6;TOC;TOCG;iRhom2 inactive rhomboid protein 2;rhomboid family member 2;rhomboid veinlet-like 5;rhomboid veinlet-like protein 5;rhomboid veinlet-like protein 6;rhomboid, veinlet-like 6;rhomboid, veinlet-like 6 (drosophila);rhomboid-like protein 6;tylosis with oesophageal cancer protein-coding ENSG00000129667 HGNC:20788 07987 148500;614404 VALIDATED 730866 RGS5 regulator of G-protein signaling 5 This gene encodes a member of the regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2011] 1 1 1 q23.1 136216406 136277298 - 163112089 163291581 - 163142299 163321791 - 1580863;6480464;7240710;7207228;8554872 21393447 10471929;11009569;11076863;11230166;11253162;12477932;14755443;15342556;15459006;15489334;15489336;15670159;16293795;16344560;16381901;16710414;17100651;17220356;17762159;17939118;18029348;18262772;18676680;19170196;19488044;19536175;19564336;19625176;19692168;19863299;20379614;20453000;20627871;20643937;21105200;21278382;21780128;21832049;21881522;22130514;23193110;23464602;23868206;24009623;24124411;24297163;24561123;9079700;9747037 8490 B1APM2;E9PS96;O15539 AA486366;AA805263;AA974387;AB008109;ABBA01047300;AF030108;AF113212;AF159570;AF172821;AF173551;AF176919;AF493929;AJ891044;AK026775;AK315357;AL157502;AL451063;AL499616;AL583850;AL592435;AL600981;AMYH02002046;AMYH02002047;AU130764;BC029357;BC030059;BC032239;BP292867;BU172751;BU187973;BX537427;CB991106;CH471067;DA699380;DA731601;HG492860;HG492861;HG492862;NG_027731;NM_001195303;NM_001254748;NM_001254749;NM_003617;NR_045630 AAB84001;AAD40957;AAG39283;AAH30059;AAM12643;AAQ13615;AAQ13619;AAQ13663;ABM83064;ABM86258;BAA22889;BAG37752;CAD97669;CAI76926;CAL38745;EAW90730;EAW90731;EAW90732;NP_001182232;NP_001241677;NP_001241678;NP_003608;O15539 Hs.24950;Hs.677623 1653033;1698660;1787848;1796684;1846787;2113656;2139725 RGS5;RGS5_786;RH102889;RH64669;RH69538;SHGC-132622;SHGC-36663 MST092;MST106;MST129;MSTP032;MSTP092;MSTP106;MSTP129;RP11-267N12.3 OTTHUMP00000032361;OTTHUMP00000232302;OTTHUMP00000232303;regulator of G-protein signalling 5 APPROVED protein-coding ENSG00000143248;ENSG00000232995 HGNC:10001 04471 145500;603276 REVIEWED 1347230 RHBDL1 rhomboid, veinlet-like 1 (Drosophila) This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 16 16 16 p13.3 926232 928424 + 725666 728268 + 675666 678268 + 633866;1580863;6480464 9662444 11157797;12477932;15489334;23263464;8889548 9028 H3BQ51;O75783 ABBA01030357;AE006464;AJ272344;AK294136;AMYH02031202;BC120874;BC120875;BI544995;BI600093;BM674847;CH471112;NG_034141;NM_001278720;NM_001278721;XM_005255665;XM_005255666;XM_006720974;XM_006720975;Y17108;Z92544 AAI20875;AAI20876;AAK61241;BAG57464;CAA76629;CAC00640;EAW85760;EAW85761;EAW85762;NP_001265649;NP_001265650;O75783;XP_005255722;XP_005255723;XP_006721037;XP_006721038 Hs.137572 RHBDL;RRP OTTHUMP00000149945;OTTHUMP00000149946;rhomboid, drosophila, homolog of;rhomboid-like protein 1;rhomboid-related protein 1 protein-coding ENSG00000103269 HGNC:10007 07050 603264 REVIEWED 1345053 RHCG Rh family, C glycoprotein ENCODES a protein that exhibits ammonium transmembrane transporter activity; ankyrin binding; INVOLVED IN ammonium transmembrane transport; ammonium transport; cellular ion homeostasis; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN apical plasma membrane; basolateral plasma membrane; extracellular vesicular exosome; INTERACTS WITH 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one; ammonia; doxorubicin 15 15 15 q25 66417127 66442288 - 90014638 90039799 - 89471407 89496613 - 6480464;8554872 10852913;11062476;12204676;12388412;12477932;12719424;12846905;1417776;14761968;15489334;15929723;16227429;16477434;16564724;16580862;16928804;18032481;18367154;19056867;19357182;19429772;19913121;20126667;20457942;20628086;24021113;24077989;24647713 51458 H0YKQ3;H0YM79;H0YMF8;H0YMS1;Q9UBD6 ABBA01053012;ABBA01053013;AC013391;AF081497;AF193809;AF219986;AF284446;AK290899;AK298252;AK298641;AK301640;AK310222;AK313238;AMYH02031020;AY257182;BC015461;BC030965;CH471101;DC306265;NM_016321;NR_110261 AAD55748;AAF19372;AAG02171;AAG02414;AAH30965;AAP81044;BAF83588;BAG36049;BAG60517;BAG60816;BAG63121;EAX02051;EAX02052;NP_057405;Q9UBD6 Hs.459284 1697190;1757065;2112966;2112972 D15S1441E;D15S1444E;RH102085;SHGC-144446 C15orf6;PDRC2;RHGK;SLC42A3 OTTHUMP00000194456;Rh type C glycoprotein;Rhesus blood group, C glycoprotein;ammonium transporter Rh type C;rh family type C glycoprotein;rh glycoprotein kidney;rhesus blood group family type C glycoprotein;tumor-related protein DRC2 protein-coding ENSG00000140519 HGNC:18140 16102 605381 VALIDATED 1352464 RHBDL3 rhomboid, veinlet-like 3 (Drosophila) ENCODES a protein that exhibits calcium ion binding (inferred); serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; N-nitrosodiethylamine; valproic acid 17 17 17 q11.2 27503536 27561889 + 30593195 30651680 + 32266176 32324661 + 6480464;8554872 11900977;12477932;15489334;22795130 162494 A4FU16;J3QQX4;P58872 ABBA01000711;AC005899;AC026620;AJ313480;AK124570;AK127490;AMYH02033315;BC016953;BC100975;BC100976;BC100977;BC100978;BX647302;CH471147;NM_138328;XM_006721733;XM_006721734;XM_006721735;XM_006721736 AAI00976;AAI00977;AAI00978;AAI00979;BAG54052;CAC86145;EAW80239;EAW80240;EAW80241;NP_612201;P58872;XP_006721796;XP_006721797;XP_006721798;XP_006721799 Hs.655027 1646686;1674418;2110707 D17S1927;G30298;RHBDL4__6922 FLJ45582;MGC119300;MGC119301;RHBDL4;VRHO rhomboid, veinlet-like 4;rhomboid-related protein 3;ventrhoid transmembrane protein protein-coding ENSG00000141314 HGNC:16502 07501 VALIDATED 1352603 RHEBP1 Ras-homolog enriched in brain pseudogene 1 10 10 q11 46913771 46915114 + 46634503 46635846 - 729721 8206940 12869548;17470430;23567640;8543055 6008 AC245163;AL356056;NG_002826 RHEB;RHEB1 pseudo HGNC:10010 INFERRED 1346400 RHEBL1 Ras homolog enriched in brain like 1 ENCODES a protein that exhibits GTP binding; INVOLVED IN positive regulation of NF-kappaB transcription factor activity; TOR signaling; FOUND IN cytoplasm; INTERACTS WITH amiodarone; arsane; arsenic atom 12 12 12 q13.12 48253252 48258558 - 49458467 49463808 - 49064684 49070025 - 737633;1580863;6480464 12477932 12869548;15761153;16098514;16189514;16328882;20368287;21655954;24127550;24250222;24722188 121268 C9JQQ1;F8W1T5;Q8TAI7 ABBA01031499;ABBA01031500;AC011603;AK098663;AMYH02026431;AMYH02026432;AY327412;AY509932;BC014155;BC027482;CH471111;NM_144593;XM_005268634 AAH14155;AAH27482;AAP92804;AAS80166;BAC05370;EAW58037;EAW58038;NP_653194;Q8TAI7;XP_005268691 Hs.159013 1706210;1709108;1712440 G54255;SHGC-80634;SHGC-85712 FLJ25797;MGC34869;RHEBL1c;rheb2 GTPase RhebL1;OTTHUMP00000243723;Ras homolog enriched in brain like 1 c;ras homolog enriched in brain like-1 c;ras homolog enriched in brain-like protein 1;rheb-like protein 1 protein-coding ENSG00000167550 HGNC:21166 15245 PROVISIONAL 1353122 RHEB Ras homolog enriched in brain This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008] 7 7 7 q36 145720573 145774491 - 151163098 151217010 - 151466012 151519924 - 1625616;1625606;1580863;1625609;2308795;6480464;6484113;6907045 15240005;16354680;16885148;19339977 10924367;11980706;12477932;12690205;12771962;12820960;12842888;12853948;12869548;12869586;12906785;14702039;15150271;15308774;15340059;15388940;15489334;15728574;15755954;15772076;15775987;15809305;15809346;15854902;15878852;15951850;16006564;16098514;16344560;16631613;16803888;16915281;17018601;17077083;17470430;17928295;17991864;18324915;18521078;18550814;18650380;18658153;18708577;18708578;18842593;18948269;19056867;19222999;19570981;19636822;19838215;20048149;20053679;20127734;20354165;20368287;20375271;20388784;20554106;20685651;20732420;20818424;20837708;21048031;21135540;21139048;21163940;21336308;21412983;21437936;21784859;21890473;21906983;21963094;21988832;23409921;23863162;24337580;24368770;24403554;24648513;8206940;8543055;8661031;8889548;9001246;9099708;9130713;9847074 6009 C9J469;C9J931;F8WBL3;Q15382 AACC02000108;ABBA01035154;AC005996;AF148645;AF493921;AK125446;AK289370;AMYH02017074;BC009638;BC016155;BC066307;BC107705;BG702213;BM670621;BT006958;CH471173;D78132;DA475169;JC006890;NM_005614;XM_006716081;Z29677 AAD15548;AAF73125;AAH16155;AAH66307;AAI07706;AAM12635;AAP35604;BAA11211;BAF82059;BAG54198;CAA82774;CDL93493;EAL24515;EAW53986;EAW53987;EAW53988;EAW53989;NP_005605;Q15382;XP_006716144 Hs.283521;Hs.568850;Hs.647068 1644380;1847131;5020864;5023614;5124057 G62040;RH18139;RHEB;SHGC-37157;WI-22302 MGC111559;RHEB2 GTP-binding protein Rheb;OTTHUMP00000211964;Ras homolog enriched in brain 2 APPROVED protein-coding ENSG00000106615 HGNC:10011 03188 601293 REVIEWED 7205588 RHEBP2 Ras-homolog enriched in brain pseudogene 2 10 10 47395845 47397194 + 47705812 47707174 + 101060032 ABBA01205086;AMYH02022866;BX649215;XR_246209;XR_250623;XR_252744 pseudo HGNC:44991 MODEL 7205553 RHEBP3 Ras-homolog enriched in brain pseudogene 3 22 22 22 q11.21 2121649 2123047 - 18501972 18503370 - 18019206 18020604 - 692231 ABBA01001425;ABBA01001426;AC016027;AMYH02038020;NG_005692 pseudo HGNC:44992 INFERRED 1351825 RHBG Rh family, B glycoprotein (gene/pseudogene) This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 1 1 1 q21.3 129411936 129427944 + 156338980 156355013 + 156369189 156385221 + 1580863;6480464;8554872 10852913;11024028;11358367;12477932;12595489;14702039;15284342;15489334;15611082;15929723;16227429;16281947;16584906;16710414;16764738;17106214;18032481;18635543;19357182;19429772;19913121;19953292;20539225;20628086;21988832;22589738;23324176;24077989;24647713 57127 B7Z8R8;F5GWZ4;Q9H310 ABBA01016660;ABBA01016661;ABBA01016662;AF193807;AF219980;AI310325;AK054780;AK290840;AK294641;AK303799;AK303814;AK308556;AL139130;AL589685;AMYH02001971;AY139092;AY139093;BC065218;CH471121;DC393205;KF798192;NM_001256395;NM_001256396;NM_020407;NR_046115 AAG01086;AAH65218;AAL05978;AAN34363;AAN34364;BAF83529;BAG51423;BAH11830;BAH14054;BAH14058;EAW52959;EAW52960;EAW52961;EAW52962;EAW52963;NP_001243324;NP_001243325;NP_065140;Q9H310 Hs.131835 1685359;5015961 D15S1477;RH70095 SLC42A2 OTTHUMP00000025727;Rh type B glycoprotein;Rhesus blood group, B glycoprotein;ammonium transporter Rh type B;rh family type B glycoprotein;rhesus blood group family type B glycoprotein APPROVED protein-coding ENSG00000132677 HGNC:14572 06152 607079 REVIEWED 736735 RHD Rh blood group, D antigen The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 24016695 24018244 - 25598884 25656936 + 25272486 25330445 + 1580863;6480464 10590042;10607679;10627438;10737800;10753853;10845894;10924335;11161244;11288127;11436564;11716963;11724987;11902138;12070041;12084172;12130520;12200394;12201845;12358932;12393640;12439825;12477932;12493401;12675718;12760254;12857961;12919427;1379850;1438298;14570619;15043574;15112469;15284121;15318849;15373666;15754970;15987365;16181204;16181207;16510313;16584437;16584438;16584906;16603771;16722361;16934070;17029192;17029203;17035176;17036929;17196520;17204201;17497744;17900276;18027815;1824267;18426681;18544617;1898705;19055536;19170995;19364677;19374729;19388479;19392776;19545247;20188798;20233350;20608477;20723165;21072752;21133932;21269342;21488716;21658048;21745213;22121029;22211984;22288371;22320258;22420867;22690701;22738288;22804620;23209579;23216299;23228153;23461862;23550903;23550956;23634715;23712954;23742316;23772606;23902153;24033223;24204719;24250222;24965774;3131772;3135863;3146980;7606008;7741145;7789951;7888828;7916743;8080999;8180407;8188244;8220426;8329718;8341334;8554049;8639918;8669091;8808597;8822955;8900235;9845707;9864185 6007 B4DLT8;E7EVW1;H3BT10;Q02161;Q1KT12;Q5XLS8;Q5XLT0;Q5XLT3;Q7RU08;Q9UPC8 AB012623;AB012658;AB012659;AB012660;AB012661;AB012769;AB018966;AB018967;AB018968;AB018969;AB037270;AB046420;AB049754;ABBA01059930;AC247058;AF037626;AF177938;AF187846;AF312679;AF390110;AF390111;AF510069;AF510070;AJ131502;AJ276015;AJ276016;AJ278873;AJ299020;AJ417868;AJ428455;AJ504792;AJ534720;AJ548429;AJ548430;AJ548431;AJ548432;AJ557803;AJ557825;AJ557826;AJ557827;AJ585038;AJ585039;AJ585040;AJ585041;AJ630375;AJ633649;AJ704215;AJ784311;AJ784312;AJ867386;AJ867387;AJ867775;AJ867776;AK297151;AL928711;AM049242;AM072758;AM072759;AM072961;AM157176;AM181333;AM183924;AM234631;AM398143;AM398144;AM691826;AM998540;AM998549;AV746749;AW805821;AY149684;AY149686;AY149687;AY170011;AY449381;AY449382;AY449383;AY449384;AY449385;AY751491;AY751492;AY751493;AY751494;AY751495;AY751496;AY756316;AY864887;AY864888;AY864889;BC139922;BF798211;BN000065;DQ088169;DQ088170;DQ121434;DQ121435;DQ451878;DQ534022;DQ534023;EU335052;EU372940;EU372941;EU372942;EU557240;EU557241;EU661905;EU661906;EU661907;FN394731;FR745438;FR745439;FR745440;FR745441;FR822382;HE577129;HE657774;HE657775;HF586484;HF674881;JF436967;JN635688;JN635689;JQ065733;JQ424879;L08429;NG_007494;NM_001127691;NM_001282867;NM_001282868;NM_001282869;NM_001282870;NM_001282871;NM_001282872;NM_016124;S57971;S70174;S73913;S78509;S82449;S83376;S83379;U66341;X63094;X63097;Z97026;Z97031;Z97334 AAA02679;AAB26081;AAB30756;AAB31911;AAB34852;AAB37696;AAB39602;AAD02100;AAD55773;AAF04565;AAG40872;AAI39923;AAI60075;AAM46621;AAM46622;AAN75125;AAN75126;AAN86716;AAN86717;AAO27437;AAO27438;AAO27439;AAO39709;AAR24078;AAR24079;AAR24080;AAR24081;AAR24082;AAU93635;AAU93636;AAU93637;AAU93638;AAU93639;AAU93640;AAV51934;AAX63192;AAX63193;AAX63194;AAZ09245;AAZ09246;AAZ09247;AAZ09248;ABE77177;ABF83900;ABF83901;ABY75965;ABY75966;ABY75967;ACA35010;ACB87204;ACB87205;ACD43640;ACD43641;ACD43642;AEK48078;AEX55120;AEX55121;AEY68242;AFG26682;BAA32804;BAA32815;BAA32817;BAA32818;BAA70073;BAA70085;BAA81899;BAA81900;BAA81901;BAA82159;BAA90298;BAB16598;BAB21261;BAG59650;CAA10381;CAA44808;CAA44811;CAB09722;CAB09727;CAB10170;CAC07808;CAC10191;CAC81663;CAC81664;CAD10630;CAD21486;CAD29848;CAD43296;CAD58985;CAD68166;CAD68167;CAD68168;CAD68169;CAD89873;CAD89887;CAD89888;CAD89889;CAE51071;CAE51072;CAE51073;CAE51074;CAF74820;CAG17774;CAG28848;CAH04921;CAH04922;CAI29761;CAI29762;CAI30431;CAI30432;CAJ15658;CAJ26348;CAJ26349;CAJ26351;CAJ43113;CAJ57392;CAJ75460;CAJ81056;CAL44955;CAL44956;CAM88658;CAQ53121;CAQ53130;CAY97110;CBY78078;CBY78079;CBY78080;CBY78081;CBZ41224;CCC86599;CCF77703;CCF77704;CCQ71544;CCQ71941;NP_001121163;NP_001269796;NP_001269797;NP_001269798;NP_001269799;NP_001269800;NP_001269801;NP_057208;Q02161 Hs.449968 1649544;1693240;1738995;1848804;1853186;2147059;2157134;5022578;5125413 AL033573;D1S1423;D1S2236;RH71035;RHD;SGC38385;SHGC-11980;SHGC-33490;SHGC-74423 CD240D;DIIIc;MGC165007;RH;RH30;RHCED;RHDVA(TT);RHDel;RHPII;RHXIII;Rh4;RhDCw;RhII;RhK562-II;RhPI D antigen (DCS);OTTHUMP00000003536;OTTHUMP00000211878;RH polypeptide 2;Rh blood group antigen Evans;Rh blood group, D anitgen;Rhesus blood group D antigen allele DIII type 7;Rhesus system D polypeptide;blood group Rh(D) polypeptide;rhesus D antigen;rhesus blood group APPROVED protein-coding ENSG00000187010 HGNC:10009 00199 111680 REVIEWED 1602857 RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 INVOLVED IN cellular response to ionizing radiation; cellular response to UV; DNA damage checkpoint; FOUND IN chromosome; nucleus; INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene diol epoxide I 12 12 12 p13.33 4600319 4612514 + 2985424 2998691 + 2876258 2889525 + 6480464 11414747;12477932;14702039;15221005;15489334;16341674;16344560;17525332;19322201;20811708;21145461;21659603 83695 F5H0U1;F5H580;F5H795;F5H7S2;Q9BSD3 AB073599;ABBA01048796;AC005841;AC005911;AF386144;AF386429;AF386459;AI631627;AK021945;AK304613;AK315364;AMYH02025886;AMYH02025887;AMYH02025888;BC000079;BC005106;BM847461;CH471116;DA378594;DA679606;DA749974;DA965227;NM_001252499;NM_001252500;NM_001257097;NM_001257098;NR_027365;NR_046432;NR_046433 AAM46246;AAM46518;AAM46547;BAD38639;BAH14225;EAW88879;NP_001239428;NP_001239429;NP_001244026;NP_001244027;Q9BSD3 Hs.198853 1661325;1682083;5022322 D11S2560;RH46379;STS-N62451 C12orf32;FLJ60873;HKMT1188;MGC13204 RAD9, HUS1, RAD1-interacting nuclear orphan protein 1;RAD9, RAD1, HUS1-interacting nuclear orphan protein;RHINO;Rad9, Rad1, Hus1 interacting nuclear orphan APPROVED protein-coding ENSG00000171792 HGNC:28206 17487 614085 VALIDATED 1351195 RHOB ras homolog family member B ENCODES a protein that exhibits GDP binding (inferred); GTP binding (inferred); GTPase activity (inferred); INVOLVED IN cellular response to hydrogen peroxide; cellular response to ionizing radiation; endosome to lysosome transport; ASSOCIATED WITH Breast Neoplasms; FOUND IN cleavage furrow; endosome membrane; extracellular vesicular exosome; INTERACTS WITH (-)-perillyl alcohol; (R)-mevalonic acid; 17beta-estradiol 2 2 2 p24 20509553 20511920 + 20646835 20649201 + 20447074 20449440 + 2298874;6480464 12237774 10508588;10713718;10913192;11149925;11353846;11546812;11741970;11786539;11788600;11905808;12221096;12473120;12477932;12878865;12939257;13679852;13679859;1400319;14647415;14702039;15102679;15226397;15451670;15489334;15574879;15642170;15713677;15815621;15944396;16196087;16236794;16278215;16642435;17046241;17054945;17096327;17163575;17198702;17304710;17405813;17728102;18047684;18056259;18212741;18464290;18471322;18524772;18590726;18694745;19056867;19208833;19322201;19477269;19637314;19782069;19889053;19911011;19995557;19997872;20237151;20460403;20473933;20717930;20810568;21139048;21347332;21373644;21565167;21750679;21872591;21987572;22092654;22227305;22366462;22539766;22673745;22724071;22896740;22939629;22992742;23000965;23135917;23420497;23488932;23583411;23792460;2407642;24086429;24223801;24583282;24636898;24984542;3283705;3888408;7537292;7713879;8543060;8617235;8621375;8889548;8939998;9478917;9734811;9811589 388 P62745;Q7Z4F6 ABBA01018474;AC023137;AF171089;AF498971;AK124398;AK312487;AMYH02003370;BC062781;BC066954;BK001232;BK001671;BM669284;BT019546;BT019547;CH471053;CR542272;M12174;NM_004040;X06820 AAA36565;AAH66954;AAM21118;AAQ13605;AAV38353;AAV38354;AAY24345;ACE87799;ACT64485;BAG35389;BAG54035;CAA29968;CAG47068;DAA01138;DAA01912;EAX00819;EAX00820;NP_004031;P62745 Hs.502876 1650630;2123599;2131877 RH16017;RH44304;RH66820 ARH6;ARHB;MST081;MSTP081;RHOH6;h6 Aplysia RAS-related homolog 6;OTTHUMP00000115947;oncogene RHO H6;ras homolog gene family, member B;rho cDNA clone 6;rho-related GTP-binding protein RhoB APPROVED protein-coding ENSG00000143878 HGNC:668 01321 165370 VALIDATED 1604848 RHCE Rh blood group, CcEe antigens The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in four transcript variants encoding four different isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 24144959 24145192 - 25687853 25747363 - 25361362 25420872 - 7240710;6480464;8554872 10627438;10924335;10938938;11161244;11380456;11436564;11493738;11724987;11861637;11902138;12084172;12201845;12393640;12477932;12857961;1379850;1438298;14996197;14996199;15023184;15373666;15783300;16563829;16584906;16686844;16722361;1696722;17080665;17140342;17298125;17900276;18382999;18460195;1898705;1900257;1907207;19076333;19170983;19207167;19453979;19453980;19913121;19951310;20233350;2045679;20576012;20628086;20932075;2123099;21251469;21517889;22690701;22738288;22804620;22958092;23252593;23286557;23550903;23742316;23772606;24033223;3135863;3146980;7789951;7916743;8117271;8188244;8220426;8808597;8822955;8889548;8900235;9087447;9657769 6006 E7EMF2;E7EQ47;E7EU00;E9PKB3;H0YCJ8;P18577;Q5VSJ7;Q5VSJ8;Q5VSJ9 AB016499;AB016502;AB018644;AB018645;AB030388;AB049753;ABBA01059932;ABBA01059933;ABBA01059934;ABBA01059935;AC247058;AF056965;AF056966;AF056967;AF390114;AF510065;AF510066;AF510067;AF510068;AJ276017;AJ295346;AJ504793;AJ867774;AL031284;AL928711;AM072761;AM072960;AM182448;AM182449;AM183925;AM183927;AM260938;AM295498;AM295506;AMYH02000540;AMYH02000541;AY603478;BC075081;BC139905;BM684087;BN000065;CH471134;DQ178642;DQ266353;DQ266400;DQ322275;DQ451877;FR691748;FR691749;FR691750;GU474431;GU563377;GU810838;HE572747;HG326207;HQ711843;HQ711844;HQ711845;HQ711846;HQ711847;JX420291;JX420292;JX420293;JX420294;JX420295;JX420296;JX420297;JX420298;JX420299;JX420300;JX420301;JX420302;M34015;NG_009208;NM_020485;NM_138616;NM_138617;NM_138618;S57967;S70456;U66340;X54534;X63095;X63096;X63098;XM_005245957;XM_006710810;Z97333 AAA36567;AAB26080;AAB39601;AAC18092;AAC18093;AAC18094;AAD14061;AAH75081;AAI39906;AAM46623;AAN75121;AAN75122;AAN75123;AAN75124;AAT35811;ABA25912;ABB69097;ABB97471;ABC55358;ABE77176;ADB95952;ADD62791;ADE44507;ADU25347;ADU25348;ADU25349;ADU25350;ADU25351;AFS64571;AFS64572;AFS64573;AFS64574;AFS64575;AFS64576;AFS64577;AFS64578;AFS64579;AFS64580;AFS64581;AFS64582;BAA33927;BAA33928;BAA36694;BAA36696;BAA82627;BAB16597;CAA38401;CAA44809;CAA44810;CAA44812;CAB10169;CAC51514;CAC81665;CAD29850;CAD43297;CAI30430;CAJ26347;CAJ27264;CAJ58683;CAJ58684;CAJ75454;CAJ75456;CAJ98536;CAL29648;CAL29656;CBX20979;CBX20980;CBX20981;CCC42283;CDG06148;EAW95162;EAW95163;EAW95164;EAW95165;EAW95166;EAW95167;NP_065231;NP_619522;NP_619523;NP_619524;P18577;XP_005246014;XP_006710873 Hs.449968;Hs.523054 1649544;1658277;1667800;1693240;1738995;1853186;1853859;2128018;2147059;2154369;2157134;5125413 A002S18;AL033573;D1S2236;RH11830;RH71035;SGC38385;SHGC-11980;SHGC-19731;SHGC-33490;SHGC-74419;SHGC-74423;WI-18360 CD240CE;MGC103977;RH;RH30A;RHC;RHE;RHIXB;RHPI;Rh4;RhIVb(J);RhVI;RhVIII OTTHUMP00000008980;OTTHUMP00000040543;OTTHUMP00000040544;OTTHUMP00000040545;OTTHUMP00000235019;RHCE blood group variant Crawford antigen Rh43;Rh blood group C antigen;Rh blood group Rhce antigen;Rh blood group antigen Evans;Rh polypeptide I;Rhesus blood group CE antigen;Rhesus blood group CE protein;Rhesus blood group E antigen;Rhesus blood group Rhce antigen;Rhesus system C and E polypeptides;blood group Rh(CE) polypeptide;blood group RhCcEe antigen;rh polypeptide 1;rhesus C/E antigens;rhesus blood group antigen, RhC antigen;rhesus blood group little e antigen;silenced Rh blood group CcEe antigen;truncated RHCE APPROVED protein-coding ENSG00000188672 HGNC:10008 00200 111690;111700 REVIEWED 1320529 RHOBTB2 Rho-related BTB domain containing 2 The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 8 8 8 p21.3 21807292 21840065 + 22844930 22877710 + 22987411 23020199 + 1580863;6480464;6907045 11222756;12168954;12370419;12426103;12477932;15107402;15489334;15663929;16344560;17023000;17517369;17617377;17653899;17906984;18039672;18640857;18762809;18835386;19173804;19336002;19714462;19773279;19937980;20237496;20930524;20980811;21145461;21801820;22709582;22901165;23546941;24356943;24608665;9872452 23221 E5RI44;Q9BYZ6 AA641575;AB018260;ABBA01005532;ABBA01005533;AC107959;AF315385;AK098744;AK292863;AK314366;AMYH02017599;AY009093;BC034917;BG255120;CH471080;DA289763;NM_001160036;NM_001160037;NM_015178;XM_006716315 AAG61157;AAH34917;AAK07562;BAA34437;BAC05401;BAF85552;EAW63644;EAW63645;EAW63646;NP_001153508;NP_001153509;NP_055993;Q9BYZ6;XP_006716378 Hs.372688 1721717;1767097;1774383;1775586;2116357;2184397;2191593 D8S1662;D8S2055;G59723;MARC_26768-26769:1034174633:1;WI-14836;WI-15306;WI-16696 DBC2;KIAA0717;p83 OTTHUMP00000123494;OTTHUMP00000224748;OTTHUMP00000224749;deleted in breast cancer 2 gene protein;rho-related BTB domain-containing protein 2 APPROVED protein-coding ENSG00000008853 HGNC:18756 06300 607352 REVIEWED 1315735 RHOBTB1 Rho-related BTB domain containing 1 The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 10 10 10 q21.2 55895951 56028156 - 62629196 62761198 - 60869438 61001440 - 1580863;6480464;6907045;8554872 11222756;12426103;12477932;14521508;14702039;15146197;15489334;16170569;16344560;16385451;18835386;19430483;21145461;21906983;22709582;22939624;23040068;23258531;9872452 9886 O94844;Q567T3 AB018283;ABBA01019468;ABBA01019469;ABBA01019470;AC011197;AC027678;AK075129;AK307630;AK309440;AMYH02023176;AMYH02023177;BC032848;BC041791;BC093035;BQ574439;BU624790;CB959762;CF593541;CH471083;CN286750;CQ783182;DA781491;DA830304;DA859805;DB453441;DR004641;KF455247;NM_001242359;NM_014836;NR_024554;NR_024555;XM_006718084;XM_006718085;XM_006718086;XM_006718087;XM_006718088;XM_006718089;XR_428729;XR_428730;XR_428731;XR_428732 AAH32848;AAH41791;AAH93035;ABM83380;ABM86592;BAA34460;BAC11421;CAF86387;EAW54211;EAW54212;EAW54213;EAW54214;EAW54215;EAW54216;EAW54217;NP_001229288;NP_055651;O94844;XP_006718147;XP_006718148;XP_006718149;XP_006718150;XP_006718151;XP_006718152 Hs.737374 1655796;1666505;1764795;2124751;2161807;2170312 BCD1607;SHGC-148362;SHGC-36311;SHGC-58267;STS-R82637;WI-11491 KIAA0740;MGC33059;MGC33841 OTTHUMP00000019662;OTTHUMP00000019663;rho-related BTB domain-containing protein 1 APPROVED protein-coding ENSG00000072422 HGNC:18738 06299 607351 REVIEWED 1352247 RHOF ras homolog family member F (in filopodia) ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN actin filament organization; FOUND IN extracellular vesicular exosome; INTERACTS WITH arsenous acid; benzene; benzo[a]pyrene diol epoxide I 12 12 12 q24.31 121851908 121867844 - 122215660 122231594 - 121777754 121793688 - 1580863;6480464 11084341;12477932;14702039;15489334;16341674;18663754;19056867;19322201;20233848;21139048;22251971;22260703;22721673 54509 F5GXB1;Q9HBH0;V9GY67;V9GYB3;V9GYQ1 ABBA01020183;AC084018;AF239923;AK000254;AK130459;AK289482;AMYH02027400;AMYH02027401;BC018208;BC018721;BC032529;BC043395;BG574506;BM830620;BQ053707;BQ422695;BU527972;CA426077;CH471054;CS026797;NM_019034 AAG24952;AAH18208;BAA91034;BAF82171;CAI61864;EAW98278;EAW98279;NP_061907;Q9HBH0 Hs.644504;Hs.707579;Hs.717201 1661033;1746767;1797072;2124671;5014740;5015861;5015961;5016478;5020948;5022200;5022322;5022651;5037552;7185938 A004O17;ARHF;D10S16;D11S2560;D11S2921;D15S1477;D17S610;D8S2279;G35510;G64765;GDB:434012;L18426;SHGC-33451 ARHF;FLJ20247;RIF OTTHUMP00000240047;ras homolog gene family, member F (in filopodia);rho family GTPase Rif;rho in filopodia;rho-related GTP-binding protein RhoF APPROVED protein-coding ENSG00000139725 HGNC:15703 15246 VALIDATED 1316030 RHOG ras homolog family member G This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein facilitates translocation of a functional guanine nucleotide exchange factor (GEF) complex from the cytoplasm to the plasma membrane where ras-related C3 botulinum toxin substrate 1 is activated to promote lamellipodium formation and cell migration. Two related pseudogene have been identified on chromosomes 20 and X. [provided by RefSeq, Aug 2011] 11 11 11 p15.5-p15.4 3853361 3867364 - 3848208 3862213 - 3826978 3840983 - 634616;6480464;6907045 8325658 10523675;10648409;10713718;11162552;11368848;11604131;11689693;11909943;12376551;12477932;12545154;12730235;12879077;15199069;15620647;15761153;16188938;1620121;16339170;16568096;16621998;16712791;17027967;17570359;17875742;19056867;19208761;19730683;20056178;20679435;21139048;21890473;21906983;21963094;22251971;22268729;22383878;22505724;22683270;23000965;24106269;24816145;25065758;8464478;8939998;9177787;9614181 391 P84095;Q6ICQ8 AA424888;ABBA01032048;AC090587;AF498974;AMYH02024233;AY563952;BC104177;BC104178;BI196968;BT019872;BX359696;CB125569;CH471158;CR450335;CR542105;L11317;NM_001665;X61587;XM_005252916 AAA60268;AAI04178;AAI04179;AAM21121;AAS75333;AAV38675;CAA43784;CAG29331;CAG46902;EAX02575;EAX02576;EAX02577;NP_001656;P84095;XP_005252973 Hs.501728 1668089;1736832;1736834;1736836;1795392;2136534;2157387;2189761 ARHG_57;D11S2344;D11S2345;D11S2346;D11S4526;D1Bda69;G05404;WI-9059 ARHG;MGC125835;MGC125836 OTTHUMP00000014179;ras homolog gene family, member G (rho G);rho-related GTP-binding protein RhoG APPROVED protein-coding ENSG00000177105 HGNC:672 01537 179505 VALIDATED 1323267 RHOBTB3 Rho-related BTB domain containing 3 RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004] 5 5 5 q15 90945592 91010810 + 95049181 95132071 + 95731146 95796367 + 1580863;6480464;8554872 10048485;11222756;12426103;12477932;14702039;15146197;15489334;17035353;18029348;18835386;19019082;19490898;19834535;21139048;21145461;21890473;21906983;21963094;21987572;22245496;22709582;23000965;24145166;8619474;9110174 22836 D6R935;D6RC79;D6RG10;H0Y8R9;H0Y9A8;H0Y9P6;H0Y9R7;H0Y9W9;H0YA85;O94955 AB020685;ABBA01069246;ABBA01069247;AC008821;AC008840;AF131794;AK023621;AK290034;AMYH02011822;BC013169;BC020231;BC041337;BC047884;CH471084;CN361948;HA637644;KF457947;NM_014899 AAH20231;AAH41337;BAA74901;BAF82723;CAZ39544;EAW96049;EAW96050;EAW96051;EAW96052;NP_055714;O94955 Hs.445030 1645846;1651733;1669039;1676780;1739067;1770364;2128739;2160167;2172073;5110972 A004C42;D5S1660E;D5S1783;D5S2609;L28220;RH18360;RH47558;RH78553;RH80603;STS-Z40605 KIAA0878 OTTHUMP00000149984;rho-related BTB domain-containing protein 3 APPROVED protein-coding ENSG00000164292 HGNC:18757 09557 607353 VALIDATED 1312711 RHOC ras homolog family member C This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The protein encoded by this gene is prenylated at its C-terminus, and localizes to the cytoplasm and plasma membrane. It is thought to be important in cell locomotion. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p13.1 111474221 111480469 - 113243749 113250025 - 112701127 112707403 - 1580863;2298873;2298874;6480464 12237774;12808121 10436159;10952316;11546812;11839578;12090470;12221096;12477932;12756732;12761501;12939257;12970882;1383236;14555841;14614010;14702039;15020670;15146197;15489334;15501444;15642170;15668138;15670823;15864301;15969750;16189514;16236794;16511001;16710414;16899593;17018591;17265125;17353931;17497936;17549441;17696235;17896152;17897917;18058225;18211678;18415097;18478927;18794150;18980974;19016761;19056867;19094228;19107362;19152186;19157876;19222696;19421144;19462897;19477269;19499974;19642867;19701800;19861405;19911011;19953094;20014943;20056178;20101212;20232393;20403997;20460433;20503409;20828398;21079653;21087931;21139048;21159255;21208644;21242305;21319273;21537845;21575520;21576392;21674277;21732343;21757538;21862636;21890473;21963094;22057916;22190034;22217540;22293682;22304920;22505724;22673745;22896661;22911725;22935975;22939629;22992742;23000965;23036489;23145020;23302395;23319595;23382905;23474984;23488932;23764197;24096540;24312560;24376640;24447566;24816145;3283705;3888408;7835413;7989340;8468062;8543060;8617235;8662891;8816443;8889548 389 E9PLA2;E9PN11;E9PQH6;P08134;Q5JR05;Q5JR06;Q5JR07;Q5JR08 ABBA01068416;AF085893;AF498972;AK094474;AL603832;AMYH02001746;BC007245;BC009177;BC052808;BQ231012;BT019448;BX648784;CA307508;CB851337;CH471122;CN289691;CR450360;CS026595;CX872299;L25081;NM_001042678;NM_001042679;NM_175744;X06821 AAC33179;AAH07245;AAH09177;AAH52808;AAM21119;AAV38255;ABM84097;ABM87469;BAG52873;CAA29969;CAG29356;CAI61764;EAW56533;EAW56534;EAW56535;EAW56536;EAW56539;NP_001036143;NP_001036144;NP_786886;P08134 Hs.502659;Hs.658289 1775962;1777258;2218240 ARHC_2499;SHGC-33509;SHGC-75332 ARH9;ARHC;H9;MGC1448;MGC61427;RHOH9 OTTHUMP00000013675;OTTHUMP00000013676;OTTHUMP00000013802;OTTHUMP00000013803;OTTHUMP00000013804;OTTHUMP00000013805;OTTHUMP00000013806;OTTHUMP00000013807;OTTHUMP00000013809;OTTHUMP00000229713;OTTHUMP00000229714;RAS-related homolog 9;oncogene RHO H9;ras homolog gene family, member C;rho cDNA clone 9;rho-related GTP-binding protein RhoC;rhoC GTPase;small GTP binding protein RhoC APPROVED protein-coding ENSG00000155366 HGNC:669 01322 165380 REVIEWED 1322195 RHOD ras homolog family member D Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 q14.3 64152885 64168084 + 66824289 66839488 + 67056818 67072017 + 1580863;6480464 10894936;11350626;11484930;11784792;12477932;12577064;14749388;15187129;15489334;15761153;16341674;16651639;17029007;17056591;17342762;17916560;18407999;18552504;18648664;18829532;18976975;19160018;19576212;19682162;19826002;20528248;20630939;20881960;21906983;21963094;21988832;22219277;22262769;22665057;22776962;23087206;23417980;23454120;24561123;24706358;24717605;24736615;9116026 29984 E9PIG5;O00212 ABBA01024050;AF498973;AMYH02024985;AP000729;BC001338;BM761353;BM761362;CA433897;CB853597;CH471076;CN305061;CS026791;D85815;KF455406;NM_001300886;NM_014578;XM_005273963 AAH01338;AAM21120;ABM82050;ABM85229;BAA19652;CAI61861;EAW74577;NP_001287815;NP_055393;O00212;XP_005274020 Hs.15114 1670999;2159320 STS-N39550;STS-W95064 ARHD;RHOHP1;RHOM;Rho OTTHUMP00000235165;Rho-related protein HP1;ras homolog D;ras homolog gene family, member A;ras homolog gene family, member D;rho-related GTP-binding protein RhoD APPROVED protein-coding ENSG00000173156 HGNC:670 05776 605781 REVIEWED 731031 RGS3 regulator of G-protein signaling 3 This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013] 9 9 9 q32 86854611 87007602 + 116207009 116360023 + 113444729 113597743 + 69961;1580863;6480464;6484113;8554872 8602223 10749886;10862767;11034339;11294858;11301003;11330340;11985497;12036301;12193720;12198596;12210723;12477932;14702039;15164053;15231748;15342556;15383626;15458844;15489334;16344560;16637659;16821082;16855219;16884686;17300916;17620599;18287247;19136943;19333232;19778949;19913121;19953087;20195357;20347994;20627871;20628086;21044950;21139048;21681376;21832049;21903422;21906983;21918105;22027839;22699066;22859293;23464602;24297163;25027693;8125298;8889548;9182581;9344672;9858594 5998 B3KVT7;B3KWG8;C9J582;C9J6G2;H7BXY1;H7C539;P49796;Q53GP3;Q5VXC0 ABBA01042681;ABBA01042682;ABBA01042683;ABBA01042684;AF006609;AF006610;AF463495;AF490838;AF490839;AF490840;AF493927;AF493941;AK000377;AK054584;AK074977;AK096840;AK123387;AK125059;AK125094;AK128127;AK222888;AK226153;AK289666;AK301515;AK310705;AL137066;AL162727;AL359455;AMYH02021510;AMYH02021511;AMYH02021512;AY585192;BC018072;BC019039;BC042555;BE256545;BE298009;BM690084;BP257809;CH471090;DA396065;DA680346;DA875652;DB031297;FJ423754;NG_029512;NM_001276260;NM_001276261;NM_001276262;NM_001282922;NM_001282923;NM_017790;NM_130795;NM_134427;NM_144488;NM_144489;U27655;XM_006717219;XM_006717220;XM_006717221;XM_006717222;XM_006717223;XM_006717224;XM_006717225;XM_006717226;XM_006717227;XM_006717228;XM_006717229;XM_006717230 AAB62725;AAC50394;AAH18072;AAH19039;AAH42555;AAL68829;AAM12641;AAM12655;AAM33253;AAM33254;AAM33255;AAT79495;BAA91125;BAB70766;BAC11328;BAC86049;BAC87285;BAD96608;BAF82355;BAG53374;BAG53899;BAG54130;BAG63021;EAW87387;EAW87388;EAW87389;EAW87390;EAW87391;EAW87392;EAW87393;EAW87394;EAW87395;EAW87396;EAW87397;EAW87398;NP_001263189;NP_001263190;NP_001263191;NP_001269851;NP_001269852;NP_060260;NP_570613;NP_602299;NP_652759;NP_652760;P49796;XP_006717282;XP_006717283;XP_006717284;XP_006717285;XP_006717286;XP_006717287;XP_006717288;XP_006717289;XP_006717290;XP_006717291;XP_006717292;XP_006717293 Hs.494875 1339732;1658348;1669767;1677464;1708806;1766279;1766523;1787052;1796680;1855334;2115398;2124518;2132173;2144323;2149779;2168087;2191813;5092336;7186694 A002B06;D9S106;D9S1152;D9S279;G42195;MARC_8225-8226:996688427:1;RGS3_1429;RH36572;RH45468;RH80823;SHGC-149632;SHGC-149841;SHGC-154031;SHGC-24301;SHGC-81067;STS-M78362;STS-W94230;WI-14933 C2PA;FLJ20370;FLJ31516;FLJ90496;PDZ-RGS3;RGP3 OTTHUMP00000022812;OTTHUMP00000022813;OTTHUMP00000022814;OTTHUMP00000022815;OTTHUMP00000215341;OTTHUMP00000215342;OTTHUMP00000233952;regulator of G-protein signalling 3 APPROVED protein-coding ENSG00000138835 HGNC:9999 03720 602189 REVIEWED 1316925 RHOH ras homolog family member H The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin's lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013] 4 4 4 p13 40637435 40685176 + 40192631 40246384 + 40191011 40244764 + 1580863;6480464 10803463;11032736;11368848;11460166;11809807;12477932;14702039;15300248;15489334;15563831;15670823;15761153;16169070;16344560;16541139;16965962;17028588;17035353;17064668;17443219;17476282;18029348;18559497;18691253;19019431;19414807;19847197;19950172;20184954;20379614;20738848;20851766;21103055;21473742;21841780;22474251;22505724;22689994;22850876;23499578;23850828;7784061;9226377 399 D6R8Z1;D6RA52;D6RG23;Q15669;Q6ICP4 AA767445;ABBA01004159;ABBA01004160;AC095057;AF498975;AI865435;AK097117;AK313744;AMYH02009066;AW402442;AY673952;AY673953;AY673954;AY673955;AY673956;BC014261;BG025818;BI818548;BI908453;BM457874;BU934664;BX413967;CA447396;CD703012;CH471069;CQ834136;CQ834138;CR450349;DA383563;DA815617;DA906265;DA950405;DA951252;DB115332;DB119883;NG_033255;NM_001278359;NM_001278360;NM_001278361;NM_001278362;NM_001278363;NM_001278364;NM_001278365;NM_001278366;NM_001278367;NM_001278368;NM_001278369;NM_004310;XM_006714013;Z35227 AAH14261;AAM21122;ABM83555;ABM86793;BAG36484;CAA84538;CAG29345;CAH05283;CAH05284;EAW92960;EAW92961;EAW92962;NP_001265288;NP_001265289;NP_001265290;NP_001265291;NP_001265292;NP_001265293;NP_001265294;NP_001265295;NP_001265296;NP_001265297;NP_001265298;NP_004301;Q15669;XP_006714076 Hs.654594;Hs.738915 1341020;1669435;1795394;2126203;5015339;5016478;5020740;5037552;5037554;5118506;7187101 ARHH_59;D11S3374;D4S190;D4S3233;D8S2279;D8S2282;GDB:434012;L17809;STS-AA011489;STS-Z35227 ARHH;TTF GTP-binding protein TTF;OTTHUMP00000125213;OTTHUMP00000218532;OTTHUMP00000218533;OTTHUMP00000218534;OTTHUMP00000218535;OTTHUMP00000218536;TTF, translocation three four;ras homolog gene family, member H;rho-related GTP-binding protein RhoH;translocation three four protein APPROVED protein-coding ENSG00000168421 HGNC:686 03616 602037 REVIEWED 731395 RHO rhodopsin Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq, Jul 2008] 3 3 3 q21-q24 127674318 127681023 + 129247482 129254187 + 129528639 129535344 + 1601619;1601635;1580863;1601620;6480464;6893536;6907045;7240710;8547536;8548485;8548515;8547992;8548552;8548514;8548516;5144221;8548543;8548512;8548490;8548513;8548518;8547991;8548491;8547535;8554872;8699517 11875049;15911114;16332273;16643895;17083931;17525223;19960070;20212494;21126223;21268285;21704730;2215617;22252712;22419850;23288993;23402891;23470535;23701314;8358437;9810568 10051572;10636894;10722682;10980774;11076863;11230166;11256614;11394879;11498053;11767049;11910029;11910130;11972042;12091393;12297272;12359230;12477932;12590587;12601165;12646201;12754272;12871954;1301135;1302614;1356370;1391967;1418997;14566652;1484692;15232620;15251955;1539595;15489334;15489336;15509574;15659613;15726226;15793783;1580841;15823756;1589761;16049034;16185528;16229860;16381901;16565402;16767206;17289151;17325176;17453418;17488458;17653048;1765377;17693260;17936999;18175313;18240029;18318631;1833777;18385078;1840561;18487375;18552984;1862076;18698306;1882937;18974094;1897520;19085385;1917988;19206210;19325938;19439413;19493002;19506198;19795853;19801547;19836958;1985460;1987955;19934218;19955366;19958124;20097236;2016091;20164459;20238025;20301590;20374723;20555336;20558345;20591486;20603337;20628051;20697005;20801516;20832389;21094163;21174529;21352497;2137202;21402790;21659526;21677794;21921035;21940625;21978933;22126625;22145929;22183378;22183380;2218504;22217031;22219383;22251557;2239971;22736939;22791210;22855534;22956602;23049240;2333895;23557623;23579341;23625926;23940033;24106275;24183693;24520188;24618321;24664733;24664756;24717605;2613244;2629206;3350146;3769527;3942531;6589631;7523628;7633434;7673885;7846071;7981701;7987326;7987331;7987385;8045708;8076945;8081400;8088850;8107847;8144599;8180207;8240107;8253795;8288567;8317502;8353500;8366096;8401533;8406457;8430695;8554077;8566799;8617805;8841304;8943080;9099669;9169442;9852134;9888392 6010 P08100 AB065668;ABBA01059226;ABBA01059227;AC080007;AMYH02007640;BC112104;BC112106;BX537381;CH471052;NG_009115;NM_000539;S81166;U16824;U49742 AAA97436;AAB35906;AAC31763;AAI11452;AAI12105;AAI12107;BAC05894;CAD97623;CAL37658;EAW79244;NP_000530;P08100 Hs.247565 1686660;1741461;1741893;1744215;1778649;2122355;2133155;2156216;2158148;2164850;2219630;5491371 GDB:171129;GDB:181225;GDB:186557;GDB:437730;RH26341;RH78627;RHO-5UUTR;RHO__5497;Rho;SGC31296;SHGC-30855;SHGC-31114 CSNBAD1;MGC138309;MGC138311;OPN2;RP4 OTTHUMP00000215767;opsin 2, rod pigment;opsin-2;retinitis pigmentosa 4, autosomal dominant;rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) APPROVED protein-coding ENSG00000163914 HGNC:10012 01584 136880;180380;610445;613731 REVIEWED 1345608 RHOQP1 ras homolog family member Q pseudogene 1 14 14 14 q21.3 29926519 29927159 + 50066691 50067331 + 49599973 49600613 + 319093 ABBA01018110;AL139099;AMYH02029147;NG_002478 2146981 SHGC-57967 ARHQP;RHOQP APPROVED pseudo HGNC:20003 INFERRED 1345983 RHOQ ras homolog family member Q This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 2011] 2 2 2 p21 46608550 46650502 + 46769867 46811827 + 46542728 46584688 + 1580863;6480464;6484113;6907045 10445846;10490598;10934474;10967094;11149925;11162552;11309621;11821390;12134073;12242347;12456725;12477932;12508121;12529401;12687004;12972548;14702039;15194684;15304341;15361624;15489334;15546864;16246732;16950130;18660489;19258391;19322201;20416077;2108320;21139048;21890473;23000965;24223996;24297911;24663214 23433 E5RFZ3;F8WET9;H0YB40;H0YB93;P17081;V9HWD0 ABBA01075139;AC018682;AF498976;AK095329;AMYH02003736;AMYH02003737;AMYH02003738;BC013135;BC033251;BC056154;BC065291;BC070485;BC093805;BC101806;BU928962;CH471053;EU794657;M31470;NM_012249;XM_005264229 AAA36547;AAH56154;AAH65291;AAH70485;AAH93805;AAI01807;AAM21123;AAY14834;ACJ13711;EAX00246;EAX00247;EAX00248;EAX00249;EAX00250;EAX00251;NP_036381;P17081;XP_005264286 Hs.709193 1665193;1701364;1713245;1725825;1775730;1784138;2180442;5024163;5109769;5114478;5115020 D14S659E;D2S2603;G27364;G62001;RH104312;RH120612;RH78810;SHGC-154607;SHGC-32727;SHGC-59789;WI-7257 ARHQ;HEL-S-42;RASL7A;TC10;TC10A OTTHUMP00000198143;RAS-like, family 7, member A;epididymis secretory protein Li 42;ras homolog gene family, member Q;ras-like protein TC10;ras-like protein family member 7A;rho-related GTP-binding protein RhoQ APPROVED protein-coding HGNC:17736 05791 605857 VALIDATED 4891171 RHOT1P1 ras homolog family member T1 pseudogene 1 18 18 18 p11.21 14101382 14101714 + 14222007 14222339 + 14222008 14222340 + 100462813 ABBA01074044;AMYH02034357;AP001004;NG_026314 RHOT1P;RHOT3 APPROVED pseudo HGNC:23777 INFERRED 3051026 RHOT1P2 ras homolog family member T1 pseudogene 2 13 21 21 470612 470944 - 15309314 15309646 - 13936993 13937325 - 100462811 ABBA01057071;AP001466;NG_021988 APPROVED pseudo HGNC:37838 INFERRED 1347797 RHOA ras homolog family member A ENCODES a protein that exhibits myosin binding; INVOLVED IN apical junction assembly; apolipoprotein A-I-mediated signaling pathway; cleavage furrow formation; PARTICIPATES IN calcium signaling pathway via the calcium-sensing receptor; E-cadherin signaling pathway; eicosanoid signaling pathway; ASSOCIATED WITH Breast Neoplasms; Lymphatic Metastasis; Multiple Sclerosis; FOUND IN apical junction complex; cell cortex; extracellular vesicular exosome; INTERACTS WITH (-)-perillyl alcohol; (R)-mevalonic acid; 17beta-estradiol 3 3 3 p21.3 49361450 49414313 - 49396569 49449526 - 49359145 49412093 - 1547860;1547861;1642819;1642801;1642807;1642810;1642826;1642966;1642967;1642803;1642963;2302030;2298874;2298875;2298885;2298881;2298866;2298867;2298869;2298879;2298868;2298888;2298872;2298873;2298877;2298887;6480464;6484113;6907045;7207227 11768613;11872041;12237774;12239094;12581011;12808121;12855641;15269155;15637299;16267124;16322374;16492715;17007568;17109064;17184496;17316608;17322412;17367505;17376765;17534117;17596891;17620967;17929039;17983427;18091588;18391481;18575772 10051605;10066731;10220378;10388627;10436159;10489445;10523675;10526156;10595511;10619026;10713718;10748207;10854437;10896672;10940294;10947987;10948190;11085924;11149925;11157984;11162552;11284700;11311142;11335720;11350930;11368848;11373293;11432776;11560922;11591790;11672528;11689693;11696353;11741970;11751986;11779461;11786539;11788600;11818523;11822867;11830497;11830597;11839748;11839765;11889037;11907271;11909943;11927263;11948427;11998687;12006984;12016230;12062101;12071848;12093360;12115629;12119292;12154081;12169092;12221077;12221096;12244193;12397214;12401808;12423633;12432077;12445208;12446789;12454018;12466390;12477932;12482610;12490434;12515866;12524425;12533515;12534282;12538863;12579323;12584113;12593858;12654918;12692008;12692556;12719789;12748184;12761501;12766172;12773565;12777804;12805219;12842009;12847276;12857875;12879077;12900402;12938929;12939257;12944407;12951563;12972426;12972601;1328215;14506264;14514689;14530271;14581471;14605490;14612927;14644158;14657501;14660612;14749388;15003991;15009099;15016733;15023524;15068789;15069594;15075243;15085137;15096506;15102021;15102857;15125835;15128850;15155793;15184877;15208091;15210811;15298851;15308673;15322077;15331592;15448013;15467718;15475352;15475381;15489334;15530360;15535843;15557193;1556108;15574779;15579505;15598682;15611088;15640525;15642170;15643515;15644318;15652748;15659383;15668138;15670823;15710384;15755723;15761153;15766663;15793564;15793569;15809302;15817453;15834426;15843433;15864301;15889147;15890975;15901767;15925904;15963982;16061799;16103226;16105876;16109481;16112081;16118207;16188938;16196087;16215275;16247472;16257181;16308318;16352658;16394104;16397238;16402387;16424340;16427251;16472676;16481321;16496227;16513651;16537448;16540523;16622418;16632465;16644720;16645187;16652149;16681996;16684954;16772297;16776827;16864657;16904289;16978776;16996686;17018591;17018860;17077126;17086988;17115030;17130286;17142836;17178865;17190792;17197445;17273773;17284169;17300916;17301291;17301947;17310253;17318188;17332506;17335080;17353931;17360533;17446864;17488622;17488780;17492768;17493936;17502338;17507466;17517067;17562701;17572668;17597401;17635521;17636025;17658517;17673200;17702745;17719543;17825823;17855350;17896152;17914970;17940286;17947237;17947676;17951409;17976533;18005700;18005701;18078809;18079197;18088600;18096806;18172303;18182571;18198190;18287089;18287519;18292502;18300342;18314880;18316594;18334926;18356691;18434237;18445682;18458160;18477564;18495213;18509267;18509476;18524772;18541705;18567581;18593598;18628484;18651974;18653556;18660502;18687805;18688040;18694745;18713748;18721871;18751372;18757369;18757503;18781093;18824598;18827818;18829495;18835241;18844232;18851832;18922893;18923442;18929667;18937283;18948190;18953413;18955552;18983771;18996344;18996642;19015318;19038009;19049388;19056867;19103606;19147496;19147561;19151751;19152186;19173301;19234490;19265130;19293150;19306108;19318350;19372585;19391109;19403695;19421144;19443661;19451223;19470470;19477269;19487339;19499974;19506078;19509057;19527220;19533666;19550117;19573309;19586902;19602845;19620060;19620624;19625450;19635168;19635823;19642867;19644046;19651782;19654316;19680746;19682162;19726670;19752040;19762715;19772916;19773279;19776349;19782033;19787194;19794400;19798549;19805522;19826000;19857574;19911011;19912238;19913121;19934221;19944695;19956681;20006706;20026602;20030946;20041165;20056178;20061625;20068229;20130732;20140537;20195357;20220547;20223287;20236512;20307617;20348106;20360068;20363740;20376724;20383141;20399237;20403997;20416077;20429915;20442409;20457808;20460433;20473500;20499158;20503409;20507639;20547485;20553488;20554761;20558775;20591975;20628086;20628200;20655307;20660160;20682776;20696764;20733052;20801873;20805359;20808760;20811682;20814828;20828398;20856855;20859068;20877624;20886658;20937815;20945370;20971525;21071443;21079737;21087931;21112276;21129722;21130456;21145500;21161732;21186079;21208644;21209619;21212278;21242305;21257924;21258369;21265091;21266463;21273559;21277858;21281639;21303778;21351730;21357687;21390328;21402695;21439370;21451048;21454543;21454546;21475975;21518791;21534245;21574962;21575498;21576392;21600098;21628952;21643014;21667311;21698469;21708152;21739156;21750647;21756816;21757538;21779788;21816819;21858203;21878647;21890473;21898412;21906983;21907186;21917148;21936715;21963094;21983114;21987572;21988832;22001926;22009749;22041269;22049212;22070920;22072711;22087025;22092654;22114142;22120672;22161021;22197032;22226472;22226621;22228765;22241857;22242598;22251897;22275376;22328514;22361510;22363817;22456196;22495072;22500016;22504159;22505724;22575513;22583359;22584506;22593208;22628549;22645245;22655072;22673622;22673745;22699054;22740689;22750095;22774404;22820501;22842919;22854067;22893699;22907703;22939629;22949615;22963825;22984590;22992742;23000965;23042265;23057787;23066013;23070684;23079622;23166513;23176180;23195957;23243284;23255405;23283961;23307872;23322732;23324271;23352230;23361851;23405219;23418489;23420497;23469924;23474751;23488932;23493395;23500462;23512987;23521319;23525486;23536606;23570668;23613866;23615712;23620398;23644655;23648482;23649168;23658012;23720748;23726972;23774217;23828571;23834289;23842948;23870313;23895422;23900609;23940119;24040310;24043311;2407642;24096540;24098519;24114199;24178298;24200678;24220306;24225494;24240172;24241683;24250222;24276241;24280143;24287595;24297045;24316235;24318513;24324133;24331979;24333506;24356540;24371121;24398689;24413734;24413737;24421399;24447566;24582560;24584070;24586238;24615351;24786457;24816145;24816255;24821572;24984542;3822842;7835413;7989340;8039707;8125298;8491184;8543060;8571127;8617235;8641286;8662891;8769096;8798490;8816443;8910519;9113980;9121475;9199174;9302995;9354661;9407060;9446575;9490022;9535835;9535855;9545299;9548756;9565577;9582072;9605859;9614111;9635436;9647788;9799233;9804788;9857026 387 C9J1T2;C9JNR4;C9JRM1;C9JX21;P61586;Q9BVT0 ABBA01024587;ABBA01024588;ABBA01024589;ABBA01024590;ABBA01024591;ABBA01024592;ABBA01024593;ABBA01024594;AC104452;AC121247;AC137114;AF498970;AK130066;AK130808;AK222556;AK296654;AK307220;AMYH02006750;AMYH02006751;BC000946;BC001360;BC005976;BT019870;BX647063;CH471055;CS401488;L09159;L25080;M83094;NM_001664;X05026 AAA50612;AAA67539;AAC33178;AAH00946;AAH01360;AAH05976;AAM21117;AAV38673;ACE86513;ACE87194;BAD96276;BAG59251;CAA28690;CAE46190;CAL40338;EAW64978;EAW64979;EAW64980;NP_001655;P61586 Hs.247077 1298237;1657441;1683595;1722513;1730133;1741423;2127319;2173897;2177919 A004G04;A004T30;D3S1330E;D3S2384;G60181;GDB:181197;RH46190;RH91501;WI-18922 ARH12;ARHA;RHO12;RHOH12;h12 Aplysia ras-related homolog 12;OTTHUMP00000210767;OTTHUMP00000210783;OTTHUMP00000210785;oncogene RHO H12;ras homolog gene family, member A;rho cDNA clone 12;small GTP binding protein RhoA;transforming protein RhoA APPROVED protein-coding ENSG00000067560 HGNC:667 01323 165390 VALIDATED 4108629 RHOT1P3 ras homolog family member T1 pseudogene 3 13 13 13 456523 456853 - 19411907 19412237 - 18837767 18838097 - 100462810 ABBA01068539;AC245149;AL391382;NG_021958 APPROVED pseudo HGNC:37839 INFERRED 1604729 RHOV ras homolog family member V ENCODES a protein that exhibits GTP binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of small GTPase mediated signal transduction (inferred); small GTPase mediated signal transduction (inferred); FOUND IN cytosol (inferred); endosome (inferred); plasma membrane (inferred); INTERACTS WITH 3,3',5-triiodo-L-thyronine; aflatoxin B1; 3,4-methylenedioxymethamphetamine (ortholog) 15 15 15 q13.3 17932315 17934390 - 41164412 41166487 - 40872214 40874289 - 6480464 11839775;11956592;12477932;15664990;16752908;17035353;17355222;21963094;22339630;22589738;24388711;9778532 171177 Q05D03;Q96L33 AB079131;ABBA01038428;AC025166;AMYH02030255;AY059636;BC019353;BC105020;BC105022;BC112945;CH471125;NM_133639 AAH19353;AAI05021;AAI05023;AAI12946;AAL17966;BAB86363;EAW92459;EAW92460;NP_598378;Q96L33 Hs.447901 5493823 UniSTS:495147 ARHV;CHP;WRCH-2;WRCH2 CDC42-like GTPase 2;GTP-binding protein-like 2;OTTHUMP00000160629;Rho GTPase-like protein ARHV;WRCH1-related GTPase;Wnt-1 regulated Cdc42 homolog 2;Wnt-1 responsive Cdc42 homolog 2;ras homolog gene family, member V;rho-related GTP-binding protein RhoV APPROVED protein-coding ENSG00000104140 HGNC:18313 10191 VALIDATED 1347334 RHOU ras homolog family member U This gene encodes a member of the Rho family of GTPases. This protein can activate PAK1 and JNK1, and can induce filopodium formation and stress fiber dissolution. It may also mediate the effects of WNT1 signaling in the regulation of cell morphology, cytoskeletal organization, and cell proliferation. A non-coding transcript variant of this gene results from naturally occurring read-through transcription between this locus and the neighboring DUSP5P (dual specificity phosphatase 5 pseudogene) locus.[provided by RefSeq, Mar 2011] 1 1 1 q42.11-q42.3 202138056 202149598 + 228780394 228882416 + 228644647 228746669 + 1580863;6480464;8554872 11459829;11894124;12477932;14521508;14702039;14731133;15350535;15556869;16344560;16751668;17504809;18086875;18849993;19064640;19135548;20547754;20844546;21508312;21565175;22349824;22773346;23183748;23259602;23300278;23333304;23811937;24403052 58480 Q7L0Q8 AB051826;AB074878;AB209511;ABBA01013454;ABBA01013455;ABBA01013456;AF211836;AF251701;AF282258;AF378087;AI094830;AK001478;AK289971;AL096776;AL713899;AMYH02002852;AMYH02002853;AMYH02002854;AMYH02002855;AMYH02002856;AMYH02002857;AMYH02002858;AMYH02002859;AMYH02002860;AMYH02002861;BC040076;CH471098;DA321957;DQ384420;DQ384421;DQ384422;DQ384423;DQ384424;DQ384425;GN344107;HI574064;NM_021205;NR_037962 AAG46058;AAH40076;AAK83340;AAL54874;AAL99390;ABD48870;ABD48871;ABD48872;ABD48873;ABD48874;ABD48875;BAB18638;BAB86361;BAD92748;BAF82660;CAY55989;CBX47521;EAW69885;EAW69886;NP_067028;Q7L0Q8 Hs.647774 1795396;1855643;1855645;2112372;2141593;2161568;2162118 A006F10;AL009642;ARHU_1572;D1S3637;G20757;RH12492;SHGC-23983 ARHU;CDC42L1;DJ646B12.2;FLJ10616;G28K;WRCH1;fJ646B12.2;hG28K 2310026M05Rik;CDC42-like GTPase 1;GTP-binding protein SB128;GTP-binding protein like 1;GTP-binding protein-like 1;OTTHUMP00000036026;Ryu GTPase;ras homolog gene family, member U;ras-like gene family member U;rho GTPase-like protein ARHU;rho-related GTP-binding protein RhoU;wnt-1 responsive Cdc42 homolog 1 APPROVED protein-coding ENSG00000116574 HGNC:17794 06965 606366 REVIEWED 3129723 RHOQP2 ras homolog family member Q pseudogene 2 INTERACTS WITH valproic acid 2 2 2 q21.1 2357 4774 + 132203046 132221203 + 131445473 131463630 + 6480464 730041 ABBA01028234;ABBA01028235;ABBA01028236;AC073869;AMYH02004810;NG_023007 1339473 D7S528 APPROVED pseudo HGNC:37836 INFERRED 1603173 RHOXF1 Rhox homeobox family, member 1 This gene is a member of the PEPP subfamily of paired-like homoebox genes. The gene may be regulated by androgens and epigenetic mechanisms. The encoded nuclear protein is likely a transcription factor that may play a role in human reproduction. [provided by RefSeq, Dec 2012] X X X q24 119708916 119715939 + 119243011 119249847 - 120109053 120115937 - 6480464 11980563;12477932;12490318;15231747;15489334;15772651;16189514;16244364;16713569;19679824;20211142;21609483;21988832 158800 Q8NHV9 ABBA01049629;ABBA01049630;ABBA01049631;AC005023;AC240732;AMYH02040352;AY099086;BC069324;BC069529;BC103857;BC103858;BE675048;CH471161;NM_139282 AAC78617;AAH69324;AAH69529;AAI03858;AAI03859;AAM22794;ABZ92380;EAW89834;NP_644811;Q8NHV9 Hs.644617 1701850 DXS7848 MGC119030;MGC119033;OTEX;PEPP1 OTTHUMP00000023932;PEPP subfamily gene 1;ovary-, testis- and epididymis-expressed gene protein;paired-like homeobox protein OTEX;paired-like homeobox protein PEPP-1;rhox homeobox family member 1 protein-coding ENSG00000101883 HGNC:29993 02345;15954 300446 REVIEWED 1626578 RHOXF2B Rhox homeobox family, member 2B ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 5-aza-2'-deoxycytidine (ortholog); benzo[a]pyrene (ortholog) X X X q24 119660827 119666305 - 119206229 119211707 - 120072264 120077742 - 6480464 727940 P0C7M4 AC005023;AC240732;AMYH02040350;AMYH02040351;NM_001099685 NP_001093155;P0C7M4 Hs.196956 1787378;2219488 PEPP-2__5666;SHGC-171749 OTTHUMP00000023931;PEPP subfamily gene 2-like;rhox homeobox family member 2B protein-coding ENSG00000203989 HGNC:33519 PROVISIONAL 1626588 RHOXF2 Rhox homeobox family, member 2 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) X X X q24 119660839 119666305 - 119292432 119297933 + 120158526 120164027 + 6480464 12477932;12490318;14702039;15231747;15489334;16189514;16713569;19060904;19447967;20211142;21874235;21988730;22136300;23682428;24722188 84528 Q9BQY4 ABBA01049621;AC002086;AC240549;AF317219;AK058125;AL590524;AL590526;AMYH02040355;AMYH02040356;BC021719;CH471161;NM_032498;XM_005262484 AAH21719;AAL02160;ABM81918;ABM85095;BAB71675;CAC36517;CAC36519;EAW89836;NP_115887;Q9BQY4;XP_005262541 Hs.567620 1787378;2219488 PEPP-2__5666;SHGC-171749 CT107;PEPP-2;PEPP2;THG1 OTTHUMP00000023933;OTTHUMP00000245264;PEPP subfamily gene 2;cancer/testis antigen 107;homeobox protein from AL590526;paired-like homeobox protein PEPP-2;rhox homeobox family member 2;testis homeobox gene 1 protein-coding ENSG00000131721 HGNC:30011 300447 PROVISIONAL 1315969 RHOT1 ras homolog family member T1 ENCODES a protein that exhibits calcium ion binding (inferred); GTP binding (inferred); GTPase activity (inferred); INVOLVED IN cellular homeostasis; mitochondrial outer membrane permeabilization; mitochondrion transport along microtubule; FOUND IN integral component of mitochondrial outer membrane; membrane; INTERACTS WITH 2-methylcholine; afimoxifene; arsenous acid 17 17 17 q11.2 27380006 27463684 + 30469473 30552746 + 32142454 32253374 + 6480464 11076863;11230166;12477932;12482879;14521508;14702039;15146197;15489334;15489336;16381901;16630562;17110338;19098100;19103291;19135897;19528298;19946888;20379614;20877624;21139048;21343306;21890473;21903422;22078885;22396657;22505724;22797925;22860091;23000965;23060438;23251661;23455922;23503661;24092329;24256248;24492963 55288 H7BXZ6;J3KRG7;J3KSR5;J3KSX7;J3QLG2;J3QSG2;K7EIQ7;K7EP86;Q8IXI2 AA772711;ABBA01000702;ABBA01000703;ABBA01000704;ABBA01000705;ABBA01000706;ABBA01000707;ABBA01000708;ABBA01000709;AC026620;AC116407;AJ496730;AJ517412;AK001902;AK022695;AK294407;AL117543;AL136929;AMYH02033312;AMYH02033313;AMYH02033314;AY094972;BC015698;BC029029;BC041114;BC051818;BC060781;BC068463;BC092401;BC110895;BC125104;BC125105;CH471147;CN352790;NM_001033566;NM_001033567;NM_001033568;NM_001288754;NM_001288755;NM_001288758;NM_018307;NR_110083;XM_005257996;XM_006721968;XM_006721969;XM_006721970 AAH15698;AAH41114;AAH51818;AAH60781;AAH68463;AAI25105;AAI25106;AAI46695;AAM15734;BAA91969;BAB14185;BAG57659;CAB66863;CAD43139;CAD56956;CAL38085;EAW80242;EAW80243;EAW80244;EAW80245;EAW80246;EAW80247;EAW80248;EAW80249;EAW80250;EAW80251;NP_001028738;NP_001028739;NP_001028740;NP_001275683;NP_001275684;NP_001275687;NP_060777;Q8IXI2;XP_005258053;XP_006722031;XP_006722032;XP_006722033 Hs.655325 1670612;1708082;1734448;1764129;1768264;1789018;1855652;2115477;2153396;5024543;5093746 A009V48;Cda0nc06;D17S1416E;D1S3690;G32899;G65642;RH17565;SHGC-147776;SHGC-31220;SHGC-32151;SHGC-81439 ARHT1;FLJ11040;FLJ12633;MIRO-1;MIRO1 hMiro-1;mitochondrial Rho (MIRO) GTPase 1;mitochondrial Rho 1;mitochondrial Rho GTPase 1;rac-GTP binding protein-like protein;rac-GTP-binding protein-like protein;ras homolog gene family, member T1 APPROVED protein-coding ENSG00000126858 HGNC:21168 15247 613888 VALIDATED 2303431 RHPN1-AS1 RHPN1 antisense RNA 1 (head to head) INTERACTS WITH copper(2+) sulfate 8 8 8 q24 140759094 140761106 - 144448793 144450805 - 143366623 143368635 - 6480464 12477932;15489334;16344560;8889548 78998 Q9BWJ2 ABBA01005260;AC087793;AK026503;AMYH02018939;BC000203;BI829214;BM685262;BM968345;CH471162;DA327076;NR_026785 EAW82257;Q9BWJ2 Hs.245886;Hs.618477 C8orf51;MGC3113 APPROVED ncrna ENSG00000254389 HGNC:28457 08328 VALIDATED 3129784 RHPN2P1 rhophilin, Rho GTPase binding protein 2 pseudogene 1 15 15 q11.1 20433870 20482347 - 20228617 20277094 - 16572171 646090 A8MT19 AC126603;AMYH02029982;NG_023012 A8MT19 1792350 PMC149355P2 pseudo HGNC:37708 INFERRED 1344064 RIBC1 RIB43A domain with coiled-coils 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene (ortholog) X X X p11.22 57281396 57289616 + 53449727 53458063 + 53422778 53431120 + 1580863;6480464;8554872 12477932;14702039;15197164;15489334;15772651;18252223;8889548 158787 Q8N443 ABBA01056416;AC233728;AI127598;AK057345;AK290346;AK292871;AK304179;AMYH02039464;AX399948;BC036767;BF433577;BM978850;CA433728;CF272701;CH471154;NG_033076;NM_001031745;NM_001267053;NM_144968;XM_005261988;XM_005261989;XM_005261990;Z97054 AAH36767;ADR83313;BAB71438;BAF83035;BAF85560;BAG65059;CAD33392;CAI42648;CAI42649;CAI42650;EAW93152;EAW93153;EAW93154;EAW93155;EAW93156;NP_001026915;NP_001253982;NP_659405;Q8N443;XP_005262045;XP_005262046;XP_005262047 Hs.351743 1699782;2137556;2159480 RH103498;RH1705;SHGC-31766 2610028I09Rik;FLJ32783;MGC46233 OTTHUMP00000023353;OTTHUMP00000023354;OTTHUMP00000023355;RIB43A-like with coiled-coils protein 1 protein-coding ENSG00000158423 HGNC:26537 06553 VALIDATED 1351194 RIBC2 RIB43A domain with coiled-coils 2 FOUND IN nucleus; INTERACTS WITH aflatoxin B1; bisphenol A; copper(2+) sulfate 22 22 22 q13.31 29720957 29739621 + 45809572 45828302 + 45413691 45432422 + 737633;6480464 12477932 10591208;15461802;15489334;15563848;16169070;16189514;18029348;21145461;8125298 26150 Q9H4K1 ABBA01007137;AK098586;AK225722;AL021391;AL050075;AL442116;AMYH02038519;BC003024;BC009904;CH471138;CR456438;CR457398;NM_015653;XM_005261524 AAH03024;AAH09904;CAB43258;CAC09526;CAG30324;CAG33679;CAK54429;CAK54728;EAW73384;NP_056468;Q9H4K1;XP_005261581 Hs.475110 1663195;2111976 D22S1596;RH65547 C22orf11;TRIB OTTHUMP00000199849;RIB43A-like with coiled-coils protein 2 protein-coding ENSG00000128408 HGNC:13241 11493 VALIDATED 1320674 RIC1 RAB6A GEF complex partner 1 ENCODES a protein that exhibits Rab GTPase binding; Rab guanyl-nucleotide exchange factor activity; INVOLVED IN negative regulation of cellular protein catabolic process; positive regulation of Rab GTPase activity; retrograde transport, endosome to Golgi; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; membrane; protein complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; crotonaldehyde 9 9 9 p24.1 5554974 5714045 + 5629031 5776557 + 5629031 5777085 + 6480464;8554872 10718198;11230166;12477932;14702039;16112082;21906983;21987572;23091056;23716474;24250222 57589 H0YFD4;H0YFN7;H0YGC4;Q4ADV7 AA250979;AB037853;AB205401;ABBA01065410;ABBA01065411;AK022642;AK074150;AK124394;AL136875;AL136980;AL354744;AMYH02019085;AMYH02019086;AMYH02019087;AMYH02019088;AMYH02019089;BC023535;BC030576;BC041044;BC136616;BC144296;CH471071;NM_001135920;NM_001206557;NM_020829;R44399;XM_005251523;XR_428426 AAH30576;AAI36617;AAI44297;BAA92670;BAB14150;BAB84976;BAE16982;CAB66809;EAW58759;EAW58760;EAW58761;NP_001129392;NP_001193486;NP_065880;Q4ADV7;XP_005251580 Hs.211520;Hs.661509 1650244;1672101;1688536;1765207;1773707;1857133 RH45366;RH45769;RH94330;SHGC-148704;STS-N30228;WI-12458 CIP150;FLJ12580;KIAA1432;bA207C16.1 OTTHUMP00000021031;OTTHUMP00000021032;OTTHUMP00000214991;connexin 43-interacting protein 150 kDa;connexin-43-interacting protein of 150 kDa;protein RIC1 homolog APPROVED protein-coding ENSG00000107036 HGNC:17686 13858 610354 VALIDATED 3278535 RHOQP3 ras homolog family member Q pseudogene 3 2 2 q21.1 130968650 130971376 - 130211077 130213803 - 284988 AC018804;AMYH02004774;NG_022969 2180442 SHGC-32727 APPROVED pseudo HGNC:37837 INFERRED 1318093 RHPN2 rhophilin, Rho GTPase binding protein 2 This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009] 19 19 19 q13.11 30163089 30249415 - 33469498 33555824 - 32978592 33064918 - 1580863;6480464;8554872 12221077;12473120;12477932;12773565;14702039;14749388;15489334;15761153;15778465;16777052;17353931;19011631;20437058;20501757;20530476;20638935;20648012;20659471;21071539;21139048;21963094;21988832;23251661;23774217 85415 B3KX27;K7EL35;Q8IUC4 ABBA01039606;ABBA01039607;ABBA01039608;ABBA01039609;AC008521;AC011449;AC093069;AF268032;AF423421;AJ347750;AK026894;AK095001;AK098246;AK126506;AK300775;AK315105;AL831950;AMYH02035930;AMYH02035931;BC036447;DC348657;NM_033103 AAH36447;AAK58588;AAQ04062;ABM83037;ABM86231;BAC04471;BAG37565;BAG53600;BAG54339;BAG62439;CAC87939;CAD38597;NP_149094;Q8IUC4 Hs.466435 1337298 D19S555 P76RBE;RHOBP 76 kDa RhoB effector protein;GTP-Rho-binding protein 2;rhophilin 2;rhophilin-2;rhophilin-like Rho-GTPase binding protein APPROVED protein-coding ENSG00000131941 HGNC:19974 10192 REVIEWED 1605657 RIC8B RIC8 guanine nucleotide exchange factor B ENCODES a protein that exhibits G-protein alpha-subunit binding; INVOLVED IN regulation of G-protein coupled receptor protein signaling pathway; FOUND IN centrosome; cytoplasm; cytosol; INTERACTS WITH trichostatin A; zinc atom; zinc(0) 12 12 12 q23.3 106833992 106948676 + 107168077 107283094 + 106774595 106889316 + 6480464 12477932;12509430;12652642;14702039;15489334;16344560;18029348;19460752;20133939;20205790;24133439 55188 B7WPL0;F8VR30;F8VSN5;F8VY51;H0YHS3;J3QRA4;Q9NVN3 ABBA01053161;ABBA01053162;AC007695;AC079385;AC090011;AK001482;AK128102;AMYH02027132;AMYH02027133;AMYH02027134;AMYH02027135;AMYH02027136;AX876839;AY221116;BC034220;BC132689;BC144056;CB215722;CH471054;DA118965;DA325821;DA534432;NM_018157;XM_005268998;XM_005268999;XR_245940;XR_245942;XR_245943 AAH34220;AAI32690;AAI44057;AAO65923;BAA91717;CAE89453;EAW97785;EAW97786;EAW97787;NP_060627;Q9NVN3;XP_005269055;XP_005269056 Hs.131306 1335765;1651727;1712376;1712398;1754587;2122212;2137622;2219772 D12S330;G54214;G54226;RH70139;SGC33354;SHGC-132874;SHGC-53905;hSyn__6607 FLJ10620;MGC39476;RIC8;hSyn OTTHUMP00000185573;OTTHUMP00000185575;OTTHUMP00000233164;OTTHUMP00000242666;brain synembrin;brain synembryn;resistance to inhibitors of cholinesterase 8 homolog B;synembryn-B APPROVED protein-coding ENSG00000111785 HGNC:25555 16452 609147 VALIDATED 1606245 RIC3 RIC3 acetylcholine receptor chaperone The protein encoded by this gene promotes functional expression of homomeric nicotinic acetylcholine receptors at the cell surface. It enhances currents generated by these receptors by expediting receptor transport to the cell surface and by increasing receptor number. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 11 11 11 p15.4 8243232 8308762 - 8127597 8190590 - 8092965 8169088 - 6480464;8554872 12477932;12821669;12975309;14702039;15504725;15809299;15927954;16120769;16344560;17192664;17370265;17609200;18179477;18208544;18246096;18471073;18691158;19913121;20522555;20628086;21915095;22970690;23153976;8889548 79608 B7Z3Z0;D3DQU6;E9PK46;E9PKX8;E9PNI0;Q7Z5B4 ABBA01028687;AC091013;AC116456;AC129895;AK021670;AK022297;AK293933;AK296505;AK315379;AL390131;AL832601;AM422214;AMYH02024288;AMYH02024289;AX878575;AY326435;AY326436;AY358475;BC022455;BQ941375;BX647514;CB850751;CH471064;DA186330;DC420812;DQ347704;DQ347705;KF455312;NG_030416;NM_001135109;NM_001206671;NM_001206672;NM_024557;NR_045405;XM_006718316;XM_006718317;XM_006718318;XM_006718319;XM_006718320;XM_006718321;XM_006718322;XR_428848;XR_428849;XR_428850;XR_428851 AAH22455;AAP92162;AAP92163;AAQ88839;BAB13871;BAG37772;BAH11630;BAH12376;CAD89943;CAE90186;CAM12309;EAW68627;EAW68628;EAW68629;EAW68630;EAW68631;NP_001128581;NP_001193600;NP_001193601;NP_078833;Q7Z5B4;XP_006718379;XP_006718380;XP_006718381;XP_006718382;XP_006718383;XP_006718384;XP_006718385 Hs.231850;Hs.568986 2116278 WI-14382 AYST720;FLJ11608;PRO1385 OTTHUMP00000230769;OTTHUMP00000230770;OTTHUMP00000230800;OTTHUMP00000230802;OTTHUMP00000230803;protein RIC-3;resistance to inhibitors of cholinesterase 3 homolog;resistant to inhibitor of cholinesterase 3 APPROVED protein-coding ENSG00000166405 HGNC:30338 17974 610509 REVIEWED 1351547 RIEG2 Rieger syndrome 2 ASSOCIATED WITH AXENFELD-RIEGER SYNDROME, TYPE 2 (inferred) 7240710 6012 HGNC:10015 601499 1347429 RHOT2 ras homolog family member T2 This gene encodes a member of the Rho family of GTPases. The encoded protein is localized to the outer mitochondrial membrane and plays a role in mitochondrial trafficking and fusion-fission dynamics. [provided by RefSeq, Nov 2011] 16 16 16 p13.3 918290 924328 + 718083 724174 + 668083 674174 + 6480464 11157797;12477932;12482879;14521508;14702039;15218247;15231748;15489334;16630562;19098100;19528298;19946888;20877624;21139048;21875946;21890473;21906983;21963094;22053931;22078885;22268729;22505724;22797925;22939629;23000965;23060438;23446634;23455922;23503661;24256248;24457600 89941 H3BMP9;H3BP40;H3BST5;H3BU27;H3BUX4;H3BVI5;I3L2C6;Q8IXI1 ABBA01030358;ABBA01030359;AE006464;AJ517413;AK024450;AK090426;AK308984;AL834163;AMYH02031202;AY207375;BC004327;BC014942;CH471112;DB465261;HC250975;HC311164;NG_031824;NM_138769;XM_005255660;XM_005255661;XM_005255662;XM_005255663;XM_005255664;XM_006720970;XM_006720971;XM_006720972;XM_006720973;Z92544 AAH04327;AAH14942;AAK61240;AAP46090;BAB15740;BAC03407;CAD56957;CBJ05785;CBJ21237;EAW85763;EAW85764;EAW85765;EAW85766;EAW85767;EAW85768;NP_620124;Q8IXI1;XP_005255717;XP_005255718;XP_005255719;XP_005255720;XP_005255721;XP_006721033;XP_006721034;XP_006721035;XP_006721036 Hs.513242 1682311;1686861;1689853;2126835;2126837;5016927 A005Y21;G20595;RH36857;RH75694;RH80151;RH91159 ARHT2;C16orf39;MIRO-2;MIRO2;RASL OTTHUMP00000149943;hMiro-2;mitochondrial Rho (MIRO) GTPase 2;mitochondrial Rho 2;mitochondrial Rho GTPase 2;ras homolog gene family, member T2 APPROVED protein-coding ENSG00000140983 HGNC:21169 15248 613889 REVIEWED 2302530 RIIAD1 regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1 INTERACTS WITH aflatoxin B1; arsane; arsenic atom 1 1 1 q21.3 124808643 124816701 + 151694013 151702082 + 151721537 151729606 + 6480464 12477932;14702039;16710414;20564261;8889548 284485 A6NNX1;C9JPK7 AA393535;ABBA01049403;AL589765;AMYH02001888;CH471121;CK300240;NM_001144956 A6NNX1;EAW53418;NP_001138428 Hs.297967 C1orf230;FLJ36032;NCRNA00166 OTTHUMP00000214004;RIIa domain-containing protein 1;RIIa domain-containing protein C1orf230;RIIa domain-containing protein ENSP00000357824 APPROVED protein-coding ENSG00000178796 HGNC:26686 VALIDATED 1352449 RIF1 replication timing regulatory factor 1 This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 2 2 2 q23.3 145880663 145948138 + 152266397 152333860 + 151409883 151477346 + 6480464;8661237;8554872 24326623 12477932;12753906;14702039;15302935;15342490;15383276;15583028;16964243;17081983;17118363;19343720;19471022;19483192;20562859;20677014;20936779;21139048;21150319;21252943;21382349;21693764;21890473;21963094;21988832;22321011;22412018;22586326;22850674;22939629;23000965;23022380;23080069;23143601;23333306;23383273;23486525;23752268;24457600;24816145;8619474;9110174 55183 B4DS49;H7BZN3;H7C2B5;Q5UIP0 ABBA01004770;ABBA01004771;ABBA01004772;ABBA01004773;AC009311;AC009497;AK000323;AK001461;AK022932;AK024033;AK074349;AK299291;AK299572;AL080129;AL137363;AMYH02004980;AMYH02004981;AMYH02004982;AY584066;AY585745;AY727910;AY727911;AY727912;AY727913;BC072675;BX648324;CH471058;CR933663;NG_017162;NM_001177663;NM_001177664;NM_001177665;NM_018151;U79263;XM_005246665;XM_006712609;XM_006712610;XM_006712611 AAB50209;AAI72393;AAS94233;AAT40745;AAV51401;AAV51402;AAV51403;AAV51404;BAA91705;BAB14313;BAB14792;BAB85058;BAG61306;BAG61511;CAB45727;CAI45961;EAX11507;EAX11508;EAX11509;EAX11510;NP_001171134;NP_001171135;NP_001171136;NP_060621;Q5UIP0;XP_005246722;XP_006712672;XP_006712673;XP_006712674 Hs.655671;Hs.735592 1690248;1713071;1739279;1769472;2110713;2162487;2171326 D2S1938E;RH11936;RH120323;RH68752;RH94042;Rif1__6890;SHGC-56421 DKFZp434D1026;DKFZp781N1478;FLJ12870 OTTHUMP00000162712;OTTHUMP00000207206;OTTHUMP00000207207;OTTHUMP00000207208;OTTHUMP00000207210;RAP1 interacting factor homolog;rap1-interacting factor 1 homolog;telomere-associated protein RIF1 APPROVED protein-coding ENSG00000080345 HGNC:23207 10603 608952 REVIEWED 1606943 RILPL2 Rab interacting lysosomal protein-like 2 ENCODES a protein that exhibits identical protein binding; INVOLVED IN epithelial cell morphogenesis (ortholog); intracellular protein transport (ortholog); FOUND IN cytoplasm; extracellular vesicular exosome; centrosome (ortholog); INTERACTS WITH 17beta-estradiol; copper atom; copper(0) 12 12 12 q24.31 123492620 123513952 - 123899936 123921264 - 123415389 123436717 - 6480464 12477932;14668488;14702039;16169070;16189514;18029348;21145461;23974872 196383 Q969X0 AB085763;ABBA01060413;ABBA01060414;ABBA01060415;AC145423;AK054942;AK056934;BC013042;CH471054;NM_145058;XR_242952 AAH13042;ABM83505;ABM86722;BAB71313;BAC76826;EAW98411;NP_659495;Q969X0 Hs.488173 1657569;1722579;2107391;5022651;5037552;5109291 D11S2921;D1S1459;D8S2279;G60221;MGC7036__7728;RH46413 FLJ30380;FLJ32372;MGC7036;RLP2 RILP-like protein 2;p40phox-binding protein;rab-interacting lysosomal protein-like 2 protein-coding HGNC:28787 10084 614093 PROVISIONAL 1604802 RIC8A RIC8 guanine nucleotide exchange factor A ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (inferred); basement membrane organization (inferred); cell migration involved in gastrulation (inferred); FOUND IN cytoplasm (ortholog); plasma membrane (ortholog); INTERACTS WITH benzene; disodium selenite; lead(0) 11 11 11 p15.5 343749 350332 - 207499 215113 + 207499 215175 + 6480464 10985349;11076863;11230166;12477932;12509430;12652642;14702039;15489334;15489336;16169070;16189514;16381901;16629901;16713569;20479129;21139048;21460842;21771786;21880739;21890473;21988832;22384181;22863883;23000965;23665327;24026423;24466196;24469800;24816145;8125298 60626 E9PI04;E9PLE5;E9PMP0;E9PSI0;H0YC88;H0YE35;H0YEN0;Q9NPQ8 ABBA01011167;AC069287;AK022870;AK026897;AK027090;AK027461;AK225420;AK314568;AL136935;AL390088;AMYH02024127;AX879395;BC011821;BC094717;BC111499;BC121807;BC121808;BX538115;CH471278;NM_001286134;NM_021932;XM_005253052;XM_006718270 AAH11821;AAI11500;AAI21808;AAI21809;BAB14282;BAB15653;BAB55126;CAB66869;CAB98211;CAD98025;CAE90494;CAL38313;EAW61244;EAW61245;EAW61246;NP_001273063;NP_068751;Q9NPQ8;XP_005253109;XP_006718333 Hs.592292 1694546;2161358;2163291;2169199;2169201 A001U35;A004P12;G19667;G43176;WI-19967 MGC104517;MGC131931;MGC148073;MGC148074;RIC8 OTTHUMP00000147610;OTTHUMP00000230135;OTTHUMP00000230136;resistance to inhibitors of cholinesterase 8 homolog A;synembryn;synembryn-A APPROVED protein-coding ENSG00000177963 HGNC:29550 12373 609146 VALIDATED 1606822 RIMBP2 RIMS binding protein 2 INVOLVED IN negative regulation of phosphatase activity; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); plasma membrane (inferred); synapse (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; progesterone 12 12 12 q24.33 130494857 130616297 - 130880681 131200828 - 130396136 130517865 - 6480464;8554872 10748113;12477932;15489334;16112646;17370265;17855024;19389623;19615732;20379614;21078624;22005930;9205841 23504 F5H3X3;H0YFN4;O15034 AA911488;AB002316;ABBA01019810;ABBA01019811;ABBA01019812;AC063926;AI692410;AK307226;AMYH02027553;AMYH02027554;AY699979;BC007632;BM142295;BX641152;CH471054;HG505387;HG505388;NM_015347 AAH07632;ADZ15327;BAA20776;CAE46066;EAW98512;NP_056162;O15034 Hs.657441 1334609;1648101;1677582;1712715;1733512;1762835;1762877;1764253;1764505;1767593;1775674;1849611;2178770 D12S1405;D12S1599;D12S858;D6S1151E;HSC19B112;RH121054;RH44733;RH65276;SHGC-146606;SHGC-146640;SHGC-147873;SHGC-148107;WI-18492 KIAA0318;MGC15831;PPP1R133;RBP2;RIM-BP2;RP11-662M24.2 OTTHUMP00000238667;RIM binding protein 2;RIMS-binding protein 2 protein-coding ENSG00000060709 HGNC:30339 17183 611602 VALIDATED 1313863 RHPN1 rhophilin, Rho GTPase binding protein 1 ENCODES a protein that exhibits small GTPase regulator activity (inferred); INVOLVED IN regulation of catalytic activity (inferred); signal transduction (inferred); INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog); cisplatin (ortholog) 8 8 8 q24.3 140761326 140776245 + 144451025 144466390 + 143368855 143384220 + 1580863;6480464 10591629;11572484;12221077;12477932;14749388;15489334;16189514;19403673;24250222 114822 Q8TCX5 AB067516;ABBA01005258;ABBA01005259;ABBA01005260;AC087793;AC105118;AMYH02018939;AY082588;BC012135;BC025767;BX341691;CH471162;NM_052924;XM_005250772;XM_005250773;XM_006716502;XM_006716503 AAH25767;AAL89809;BAB67822;EAW82251;EAW82252;EAW82253;EAW82254;EAW82255;EAW82256;NP_443156;Q8TCX5;XP_005250829;XP_005250830;XP_006716565;XP_006716566 Hs.521912 KIAA1929;ODF5;RHPN GTP-Rho-binding protein 1;OTTHUMP00000228179;outer dense fiber of sperm tails 5;rhophilin;rhophilin 1;rhophilin-1 protein-coding ENSG00000158106 HGNC:19973 17973 601031 VALIDATED 2291774 RIMBP3 RIMS binding protein 3 INTERACTS WITH copper(2+) sulfate 22 22 22 q11.21 190 5985 + 20455991 20461786 - 18606124 18611919 - 6480464 10591208;11258795;12477932;15489334;17855024;18029348;23128233;24722188 85376 Q9UFD9 AB051453;ABBA01146565;AC023490;AL117509;AL133030;AMYH02038092;AMYH02038093;AMYH02038094;BC035246;HC007058;NM_015672 AAH35246;AAI67855;BAB33336;CAB55970;CAB61362;CBH19334;NP_056487;Q9UFD9 Hs.115429 DKFZp434H0735;KIAA1666;RIM-BP3;RIM-BP3.1;RIM-BP3.A;RIMBP3.1;RIMBP3A OTTHUMP00000197852;RIMS binding protein 3.1;RIMS-binding protein 3.1;RIMS-binding protein 3A protein-coding ENSG00000275793 HGNC:29344 612699 VALIDATED 1602163 RILPL1 Rab interacting lysosomal protein-like 1 INVOLVED IN epithelial cell morphogenesis (ortholog); intracellular protein transport (ortholog); regulation of neuron death (ortholog); FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; cisplatin 12 12 12 q24.31 123551811 123614423 - 123955909 124018265 - 123471362 123533718 - 6480464 12477932;14668488;14702039;18029348;21139048 353116 F5H6W5;G8JLD1;Q5EBL4 ABBA01060401;ABBA01060402;ABBA01060403;ABBA01060404;ABBA01060405;ABBA01060406;ABBA01060407;ABBA01060408;AC055713;AC145423;AC246790;AK096697;AK097550;BC041375;BC080626;BC089444;BX281699;BX359997;CH471054;NM_178314;XM_005253570;XM_006719372;XM_006719373;XM_006719374 AAH80626;AAH89444;BAC04845;EAW98415;EAW98416;NP_847884;Q5EBL4;XP_005253627;XP_006719435;XP_006719436;XP_006719437 Hs.530315 1660743;1685716;1697836;2127087;5015961;5016478;5016596;5020881;5037552;5106009 D15S1477;D8S2279;GDB:434012;GDB:631802;L17709;RH102443;RH91528;SHGC-146064;WI-10547;WI-15963 FLJ39378;MGC105128;MGC99793;RLP1 GOSPEL;OTTHUMP00000239189;RILP-like protein 1;rab-interacting lysosomal-like protein 1 protein-coding HGNC:26814 13435 614092 VALIDATED 2291772 RIMBP3C RIMS binding protein 3C 22 22 22 q11.21 190 5985 + 21899955 21905750 - 21545666 21551461 - 17855024;18029348;19807924;8889548 150221 A6NJZ7;J3KP16 AMYH02038115;AMYH02038116;AP000557;BF513974;BU738457;NM_001128633 A6NJZ7;NP_001122105 Hs.447643 RIM-BP3.3;RIMBP3.3 OTTHUMP00000198566;RIM-BP3.C;RIMS binding protein 3.3;RIMS-binding protein 3.3;RIMS-binding protein 3C protein-coding ENSG00000183246 HGNC:33892 612701 VALIDATED 1317025 RILP Rab interacting lysosomal protein This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011] 17 17 17 p13.3 1564800 1568748 - 1549444 1553392 - 1646150 1650098 - 737633;1580863;6480464;7240710 12477932 11179213;11448994;11520070;11696325;12475955;12621583;12944476;14668488;14702039;15489334;15498874;15933719;15996637;16417580;16631113;16857164;17010938;17959629;18272684;18330356;18552835;18922795;19286658;19564404;19913121;20012524;20628086;20877624;21988832;23729732 83547 I3L1U0;Q96NA2 ABBA01054669;AC130343;AF370391;AJ278711;AJ404317;AK055755;AK314767;AMYH02032748;BC004961;BC031621;CH471108;NG_033061;NM_031430;XM_005256811;XM_006721586;XM_006725256;XM_006725257 AAH04961;AAH31621;AAQ15227;ABM83393;ABM86606;BAB71003;BAG37305;CAC33443;CAC82174;EAW90595;NP_113618;Q96NA2;XP_005256868;XP_006721649;XP_006725319;XP_006725320 Hs.534497 1685748;2119014;2182446 RH41938;STS-T96691;STS-W58284 FLJ31193;PP10141 OTTHUMP00000115658;rab-interacting lysosomal protein APPROVED protein-coding ENSG00000167705 HGNC:30266 09706 607848;612437 REVIEWED 1606921 RIMKLA ribosomal modification protein rimK-like family member A ENCODES a protein that exhibits N-acetyl-L-aspartate-L-glutamate ligase activity (ortholog); INVOLVED IN cellular protein modification process (inferred); metabolic process (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH all-trans-retinoic acid; cobalt atom; copper atom 1 1 1 p34.2 41128424 41171853 + 42846468 42889900 + 42380797 42424229 + 6480464 12477932;15489334;16710414;17207965;20657015;21454531;21906983 284716 Q8IXN7;X1WI25 ABBA01023133;AL513331;AMYH02000879;BC039737;BX094947;CH471059;CS061180;DR000262;NM_173642;XM_006710585 AAH39737;ADQ32504;CAI79368;EAX07161;NP_775913;Q8IXN7;XP_006710648 Hs.420244 1657102;1700814;1720247;1735050;1763327;1773074;1773727;1848710;2115800;2137208;2140300;2153255;2153257;2166406;2175772;5022200 A005P13;D1S1819E;D1S2377;D1S2527;D1S3442;G20393;L18426;RH104032;RH123872;SHGC-147054;SHGC-74673;SHGC-74674;SHGC-74675;SHGC-74687;SHGC-74714;SHGC-74728 FAM80A;MGC47816;RP11-157D18.1 N-acetylaspartyl-glutamate synthetase A;N-acetylaspartylglutamate synthase A;N-acetylaspartylglutamate synthetase II;N-acetylaspartylglutamylglutamate synthase A;NAAG synthetase A;NAAGS;NAAGS-II;OTTHUMP00000008435;family with sequence similarity 80, member A;ribosomal protein S6 modification-like protein A protein-coding ENSG00000177181 HGNC:28725 14656 VALIDATED 1352332 RIMKLBP1 ribosomal modification protein rimK-like family member B pseudogene 1 21 21 21 q22.12 22621246 22623285 + 37422358 37424397 + 36050060 36052099 + 10830953 54031 ABBA01057382;AMYH02037772;AP000688;AP001724;NG_000912 FAM80B2;FAM80C;RIMKLB2;RIMKLP APPROVED pseudo HGNC:34034 INFERRED 1606518 RIMKLB ribosomal modification protein rimK-like family member B ENCODES a protein that exhibits citrate-L-glutamate ligase activity (ortholog); N-acetyl-L-aspartate-L-glutamate ligase activity (ortholog); INVOLVED IN cellular protein modification process (inferred); metabolic process (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH arsane; arsenic atom; benzo[a]pyrene diol epoxide I 12 12 12 p13.31 10388117 10467384 + 8834273 8935688 + 8697177 8783095 + 6480464 10574462;12477932;15489334;16196087;16344560;20643647;21139048;21454531;21963094;21988832 57494 F5GZH5;F5H3V4;F5H552;Q9ULI2 AA431479;AB033064;ABBA01012246;ABBA01012247;ABBA01012248;AC092490;AI244709;AK302847;AL137567;AMYH02025994;AW196581;BC006368;BC015879;BC021977;BC033793;CH471116;DA712243;DB265022;NM_001297776;NM_020734;NR_123740;XM_006719116;XM_006719117;XM_006719118;XM_006719119;XM_006719120;XM_006719121;XM_006719122;XM_006719123;XM_006719124;XM_006719125;XM_006719126;XM_006719127;XM_006719128 AAH21977;AAH33793;BAA86552;BAH13820;EAW88609;EAW88610;EAW88611;NP_001284705;NP_065785;Q9ULI2;XP_006719179;XP_006719180;XP_006719181;XP_006719182;XP_006719183;XP_006719184;XP_006719185;XP_006719186;XP_006719187;XP_006719188;XP_006719189;XP_006719190;XP_006719191 Hs.504670 1671697;1671786;1749165 RH69356;SHGC-110854;STS-W57589 FAM80B;KIAA1238;NAAGS-I N-acetyl-aspartyl-glutamate synthetase B;N-acetyl-aspartylglutamate synthetase B;N-acetylaspartyl-glutamate synthetase;N-acetylaspartyl-glutamate synthetase B;NAAG synthetase B;NAAGS;OTTHUMP00000238253;OTTHUMP00000238346;beta-citryl-glutamate synthase B;beta-citrylglutamate synthase B;family with sequence similarity 80, member B;ribosomal protein S6 modification-like protein B protein-coding ENSG00000166532 HGNC:29228 13844 614054 VALIDATED 2291768 RIMBP3B RIMS binding protein 3B ASSOCIATED WITH Melanoma (inferred) 22 22 22 q11.21 567 5985 + 21738040 21743458 + 21383751 21389169 + 8554872 17855024;18029348 440804 A6NNM3 AMYH02038060;AP000552;BX112696;DB455171;NM_001128635 A6NNM3;NP_001122107 Hs.568257 RIM-BP3.2;RIM-BP3.B;RIMBP3.2 OTTHUMP00000198553;RIMS binding protein 3.2;RIMS-binding protein 3.2;RIMS-binding protein 3B protein-coding ENSG00000274600 HGNC:33891 612700 VALIDATED 1347880 RIMS3 regulating synaptic membrane exocytosis 3 ENCODES a protein that exhibits ion channel binding (ortholog); INVOLVED IN calcium ion-dependent exocytosis (ortholog); regulation of membrane potential (ortholog); regulation of synaptic vesicle exocytosis (ortholog); FOUND IN cell junction (inferred); presynaptic active zone (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 1 1 1 p34.2 39368745 39413732 - 41086352 41131324 - 40620680 40665652 - 633867;633421;1580863;6480464 10748113;12620390 12477932;15217342;15489334;16710414;17081983;18490030;19546099;21988832;24722188;9039502 9783 Q9UJD0 ABBA01023167;ABBA01023168;AL031289;AMYH02000861;AY326956;BC003103;CH471059;CK005853;D87074;KJ534969;KJ535026;NM_014747 AAH03103;AAQ01683;ABZ92281;AHW56609;AHW56665;BAA13243;EAX07206;EAX07207;NP_055562;Q9UJD0 Hs.654808 1654818;1771882 SHGC-36790;SHGC-74662 KIAA0237;NIM3;RIM 3;RIM3 OTTHUMP00000008622;OTTHUMP00000008623;RIM3 gamma;Rab-3 interacting molecule 3;rab-3-interacting molecule 3;regulating synaptic membrane exocytosis protein 3 protein-coding ENSG00000117016 HGNC:21292 17976 611600 VALIDATED 4889769 RIMKLBP2 ribosomal modification protein rimK-like family member B pseudogene 2 1 1 1 192590978 192591764 - 219373254 219374040 - 219199912 219200698 - 100422371 ABBA01048098;AL360093;AMYH02002723;NG_027041 pseudo HGNC:39163 INFERRED 1348032 RIN1 Ras and Rab interactor 1 ENCODES a protein that exhibits GTPase activator activity (inferred); Ras GTPase binding (inferred); INVOLVED IN associative learning (inferred); endocytosis (inferred); memory (inferred); FOUND IN cytoplasm; plasma membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 11 11 11 q13.2 63419443 63423901 - 66099535 66104000 - 66332071 66336529 - 729747;1580863;6480464 9144171 10545207;11703925;11784866;11788587;12477932;12574403;15031288;15489334;15886098;15951569;16273093;16457816;16964243;17390061;17403676;18089779;1849280;18729074;19032933;19060904;19118546;19570984;19806790;20467438;21102429;21209314;21906983;21925717;21926972;21963094;21987572;22118674;22249975;22562267;22627834;22976291;3874369;7862125;9208849 9610 E9PMB8;E9PNR2;H0YCG8;Q13671 AB209445;ABBA01024083;AK295365;AK297757;AK301430;AMYH02024975;AP001107;BC014417;BG163919;BQ956294;CH471076;L36463;NM_004292 AAB67270;AAH14417;ABM84601;ABM86764;BAD92682;BAG60106;BAG62958;BAH12046;EAW74512;NP_004283;Q13671 Hs.1030 1337203;2219634 D13S1305;RIN1__5502 OTTHUMP00000235071;OTTHUMP00000235073;ras inhibitor 1;ras inhibitor JC99;ras inhibitor RIN1;ras interaction/interference protein 1 protein-coding ENSG00000174791 HGNC:18749 05813 605965 VALIDATED 1350639 RIMS4 regulating synaptic membrane exocytosis 4 ENCODES a protein that exhibits ion channel binding (ortholog); INVOLVED IN regulation of membrane potential (ortholog); regulation of synaptic vesicle exocytosis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN synaptic membrane (ortholog); INTERACTS WITH 2-methylcholine; PhIP; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 20 20 20 q13.12 40089112 40147575 - 43380445 43438979 - 44751804 44810338 - 633867;1580863;6480464;8554872 12620390 11780052;12477932;14702039;15217342;15489334;18187620;20379614;21139048;21832049;22779921;23251661;23602568 140730 Q9H426 ABBA01052652;ABBA01052653;AK055698;AK095716;AK124626;AK126807;AL118522;AMYH02037138;AY326954;BC036612;BC104190;BC104191;BC112985;BU167487;BX648947;CH471077;NM_001205317;NM_182970 AAI04191;AAI04192;AAI12986;AAI60058;AAQ01681;EAW75897;EAW75898;EAW75899;NP_001192246;NP_892015;Q9H426 Hs.517065 1735012;1772184;2122342;2157158;2168038;2172411;2219632 A002B08;D20S1038;D20S590E;G18091;G18129;RH44302;RIMS4__5501 C20orf190;RIM 4;RIM-4;RIM4;RIM4 gamma;RIM4-gamma;RIM4gamma;dJ781B1.3 OTTHUMP00000039719;rab3-interacting molecule 4;regulating synaptic membrane exocytosis protein 4 protein-coding ENSG00000101098 HGNC:16183 17977 611601 VALIDATED 731818 RIMS1 regulating synaptic membrane exocytosis 1 The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012] 6 6 6 q12-q13 72990111 73506277 + 72596406 73112845 + 71886703 72403143 + 68912;6480464;7240710;8554872;8699517 11438518 11343654;11438519;11438520;11438521;11438522;11797009;12163476;12391317;12477932;12578829;12620390;12659814;12871946;14702039;14734538;15217342;15302935;15746564;16344560;16722236;17237123;17353931;17474147;19156168;19240061;20125193;20379614;20801516;21331761;21402706;22248876;24009623;24236485;9205841;9634506 22999 B7Z7W2;B7Z9Z3;E5RGM0;H0YBE7;H0YBU6;Q3ZCW0;Q86UR5 AB002338;AB045726;AB051866;ABBA01040291;ABBA01040292;ABBA01040293;ABBA01040294;ABBA01040295;ABBA01040296;ABBA01040297;AF263305;AF263306;AF263307;AF263308;AF263309;AF263310;AK095726;AK293828;AK294868;AK295001;AK295177;AK296303;AK300503;AK300853;AK302571;AK308658;AK309185;AK311105;AK316108;AL034373;AL035633;AL160405;AL390056;AL445256;AL590011;AMYH02013888;AMYH02013889;AMYH02013890;AMYH02013891;AY190519;BC036608;BC151853;BC152435;CH471051;DA417361;DB168720;KF458195;KF458197;KF458204;KF510957;NG_016209;NM_001168407;NM_001168408;NM_001168409;NM_001168410;NM_001168411;NM_014989;XM_005248685;XM_005248686;XM_005248687;XM_005248688;XM_005248690;XM_005248691;XM_006715383;XM_006715384;XM_006715385;XM_006715386;XM_006715387;XM_006715388;XM_006715389;XM_006715390;XM_006715391;XM_006715392 AAG23162;AAG23163;AAG23164;AAG23165;AAG23166;AAG23167;AAH36608;AAI51854;AAI52436;AAI56412;AAI72482;AAO38848;BAA20798;BAB87121;BAB87242;BAH11605;BAH11906;BAH11945;BAH12000;BAH12309;BAH13295;BAH13358;BAH13748;BAH14479;EAW48787;EAW48788;EAW48789;EAW48790;EAW48791;EAW48792;EAW48793;EAW48794;EAW48795;EAW48796;NP_001161879;NP_001161880;NP_001161881;NP_001161882;NP_001161883;NP_055804;Q86UR5;XP_005248742;XP_005248743;XP_005248744;XP_005248745;XP_005248747;XP_005248748;XP_006715446;XP_006715447;XP_006715448;XP_006715449;XP_006715450;XP_006715451;XP_006715452;XP_006715453;XP_006715454;XP_006715455 Hs.485729 1334762;1336632;1656471;1696282;1705422;1709228;1719423;1723583;2154776;2155811;2155813;2173640;5022450 A005R44;B297ZG1;D10S275;D6S1625;D6S430;G20454;RH123246;RH123429;RH36025;SHGC-31710;SHGC-83774;SHGC-83791;SHGC-85801 CORD7;KIAA0340;MGC167823;MGC176677;RAB3IP2;RIM;RIM 1;RIM1 OTTHUMP00000016715;OTTHUMP00000016716;OTTHUMP00000016717;OTTHUMP00000016718;OTTHUMP00000016719;OTTHUMP00000016720;OTTHUMP00000224637;OTTHUMP00000224638;OTTHUMP00000224639;OTTHUMP00000224640;OTTHUMP00000224642;OTTHUMP00000224643;OTTHUMP00000224644;OTTHUMP00000224645;OTTHUMP00000224646;RAB3-interacting protein 2;rab-3-interacting molecule 1;rab-3-interacting protein 2;rab3-interacting molecule 1;regulating synaptic membrane exocytosis protein 1 APPROVED protein-coding ENSG00000079841 HGNC:17282 09435 603649;606629 REVIEWED 1321483 RHOJ ras homolog family member J This gene encodes one of the many small GTP-binding proteins in the Rho family shown to be associated with focal adhesions in endothelial cells (PMID: 21148427, 22103495). The encoded protein is activated by vascular endothelial growth factor and may regulate angiogenesis. [provided by RefSeq, Dec 2011] 14 14 14 q23.2 43721815 43809227 + 63671080 63760230 + 63204362 63293512 + 1580863;6480464;8554872 10967094;12477932;12960428;14702039;15304341;15489334;15710388;15761153;17207965;20379614;21148427;21628409;22103495;22971344;23029280;23253891;24434213 57381 G3V476;G3V4H1;Q7Z513;Q9H4E5 AB209218;ABBA01018322;AF087862;AF309563;AF498977;AJ276567;AK027278;AK027351;AL049871;AMYH02029335;BC025770;BC062575;BM555132;CH471061;NM_020663;XM_006720214;XR_245708;XR_245709 AAH62575;AAL09440;AAM21124;AAP97172;ADQ32562;BAB55013;BAB55055;BAD92455;CAC06611;EAW80820;EAW80821;EAW80822;EAW80823;EAW80824;NP_065714;Q9H4E5;XP_006720277 Hs.656339 1674985;1854631;2128400;2150336;2158206;2163329;2219006;5015861;5022651;7185938 ARHJ_4040;D10S16;D11S2921;D14S1151;G35452;RH65935;RH69284;RH77820;STS-AA011182 ARHJ;FLJ14445;MGC34777;RASL7B;TC10B;TCL OTTHUMP00000179059;OTTHUMP00000245214;RAS-like, family 7, member B;TC10-like Rho GTPase;ras homolog gene family, member J;ras-like protein family member 7B;rho-related GTP-binding protein RhoJ;tc10-like GTP-binding protein APPROVED protein-coding ENSG00000126785 HGNC:688 09632 607653 VALIDATED 1351338 RIMS2 regulating synaptic membrane exocytosis 2 ENCODES a protein that exhibits ion channel binding (ortholog); INVOLVED IN calcium ion-dependent exocytosis (ortholog); calcium ion-dependent exocytosis of neurotransmitter (ortholog); cAMP-mediated signaling (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); plasma membrane (inferred); presynaptic active zone (inferred); INTERACTS WITH atrazine; curcumin; fluvastatin 8 8 8 q22.3 100699462 101452122 + 104512426 105266656 + 103500198 104254428 + 1580863;6480464;8554872 10707984;11598134;12477932;12578829;12620390;12871946;14660679;15146197;15217342;15342556;15489334;16192289;17081983;17474147;18490030;19199833;20363327;20379614;20467438;20520587;21150319;22248876;23503679;23958962;24623842;8619474;9110174;9872452 9699 D6RA03;D6RDY0;E5RI36;E9PFB6;F8W6W8;Q9UQ26 AB018294;ABBA01037640;ABBA01037641;ABBA01037642;ABBA01037643;ABBA01037644;ABBA01037645;ABBA01037646;ABBA01037647;AC007751;AC012213;AC090448;AC090686;AC107933;AF007156;AK126939;AK307790;AK308831;AMYH02018545;AMYH02018546;AMYH02018547;AMYH02018548;AMYH02018549;AMYH02018550;AP001572;AP002849;AY057119;AY057120;AY057121;AY163163;BC018057;BC043144;BE220725;BP230765;BP360433;CH471060;CN291844;CN361794;CR749374;KC877288;NM_001100117;NM_001282881;NM_001282882;NM_014677;XM_005251106;XM_005251107;XM_005251108;XM_006716690;XM_006716691;XM_006716692;XM_006716693;XM_006716694;XM_006716695;XM_006716696;XM_006716697;XM_006716698;XM_006716699 AAC19157;AAH18057;AAH43144;AAL23679;AAL23680;AAL23681;AAP43923;BAA34471;BAG54403;CAH18227;EAW91888;EAW91889;EAW91890;EAW91891;NP_001093587;NP_001269810;NP_001269811;NP_055492;Q9UQ26;XP_005251163;XP_005251164;XP_005251165;XP_006716753;XP_006716754;XP_006716755;XP_006716756;XP_006716757;XP_006716758;XP_006716759;XP_006716760;XP_006716761;XP_006716762 Hs.655271;Hs.735969 1341757;1660814;1661875;1684782;1717633;1718001;1722321;1733572;1739955;1760613;1786628;1848764;2108899;2116526;2126663;2127265;2131537;2139539;2146197;2158715;2173715;2180501;2185327;5015619;5037552 D11S3114;D17S1777;D8S1096;D8S1176;D8S1496;D8S1580;D8S2279;D8S267;D8S475;G09518;G60227;RH122121;RH122617;RH15850;RH47978;RH48184;RH70204;RIMS2_8980;SHGC-144163;SHGC-145364;SHGC-1922;SHGC-30975;SHGC-34680;WI-12189;WIAF-1584 DKFZp781A0653;KIAA0751;OBOE;RAB3IP3;RIM 2;RIM2 OTTHUMP00000221236;OTTHUMP00000221239;OTTHUMP00000221240;OTTHUMP00000221241;OTTHUMP00000221242;RAB3 interacting protein 3;Rab3-interacting protein;non-small cell lung cancer RimL3a protein;non-small cell lung cancer RimL3c protein;nuclear protein;rab-3-interacting molecule 2;rab-3-interacting protein 3;rab3-interacting molecule 2;regulating synaptic membrane exocytosis protein 2 protein-coding ENSG00000176406 HGNC:17283 09436 606630 VALIDATED 1314166 RIN2 Ras and Rab interactor 2 The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011] 20 20 20 p11.22 19944265 20057119 + 19738254 19983103 + 19757610 20002459 + 1580863;6480464;7240710;8554872;8699517 11230166;11733506;11780052;12477932;12972505;14702039;16273093;16423831;17955473;1849280;19322201;19631308;20424861;20889312;21963094;23251661;24322204;24449201;8889548 54453 A1A4T0;E7EPJ1;Q8WYP3 AB060339;ABBA01054076;ABBA01054077;ABBA01054078;ABBA01054079;AI695804;AK026753;AK094884;AL049538;AL121761;AL132821;AL136924;AMYH02036797;AMYH02036798;AMYH02036799;AMYH02036800;BC034698;BC128065;BM973182;CH471133;HG511229;M37190;NG_016310;NM_001242581;NM_018993;XM_005260730;XM_005260731;XM_005260732;XM_005260733;XM_006723573;XM_006723574;XM_006723575;XM_006723576;XM_006723577 AAA36553;AAI28066;BAB84317;BAG52947;CAB66858;EAX10216;EAX10217;NP_001229510;NP_061866;Q8WYP3;XP_005260787;XP_005260788;XP_005260789;XP_005260790;XP_006723636;XP_006723637;XP_006723638;XP_006723639;XP_006723640 Hs.472270 1655673;1659272;1675391;1684134;1693392;1848676;2109759;2127599;2136358;2148744;2160862;2162155;7183699 A007G35;AL034508;D20S537E;RH36628;RH68568;RH81081;RH92093;RIN2_9785;STS-AA037230;STS-M37190;STS-R01084;Z94331 MACS;RASSF4;RP1-122P22.2 OTTHUMP00000030372;RAB5 interacting protein 2;RAS association (RalGDS/AF-6) domain containing protein JC265;RAS association domain family 4;RAS inhibitor JC265;RAS interaction/interference protein 2 APPROVED protein-coding ENSG00000132669 HGNC:18750 15249 610222;613075 REVIEWED 1314128 RIN3 Ras and Rab interactor 3 RIN3 is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases (see RAB5A; MIM 179512) (Kajiho et al., 2003 [PubMed 12972505]).[supplied by OMIM, Mar 2008] 14 14 14 q32.12 73032207 73209490 + 92980125 93155339 + 92513781 92688991 + 1580863;6480464 11733506;12477932;12508121;12972505;14702039;15489334;17474147;18486601;20379614;21150319;21546767;21586568;21623375;21900206;22810651;23185384;24162737 79890 G3V2I7;G3V534;H0YJ83;Q86U22;Q8TB24 AB060338;AB081753;ABBA01030452;ABBA01030453;ABBA01030454;AK021762;AK026092;AK074176;AK090451;AK096145;AK128338;AL136332;AL159141;AL832844;AMYH02029761;AMYH02029762;AMYH02029763;AMYH02029764;BC025248;BC032614;BC034153;BC070062;BX248258;CH471061;CR936654;KF455990;KF510404;NM_024832 AAH25248;AAH70062;BAB13888;BAB15357;BAB84316;BAB85002;BAC03432;BAC16513;BAC87390;CAD62586;CAI56792;EAW81490;EAW81491;EAW81492;EAW81493;EAW81494;EAW81495;EAW81496;EAW81497;EAW81498;EAW81499;NP_079108;Q8TB24 Hs.326822 1336663;1337100;1649099;1763939;1764823;1783070;1847751;2122148;2124564;2140129;2177272;5015861;5020948;5022383;5022578;5022588;5022651;5037552;5109281;7185938 D10S16;D11S1909;D11S2921;D14S973;D1S1423;D1S1425;D5S1597E;D5S2453;D8S2279;ECD04345;G35510;G35555;G35616;G35844;G36199;RH45925;SHGC-147602;SHGC-148390;SHGC-154047 DKFZp762H1613;FLJ11700;FLJ22439 OTTHUMP00000245412;RAB5 interacting protein 3;ras interaction/interference protein 3 APPROVED protein-coding ENSG00000100599 HGNC:18751 11494 610223 VALIDATED 1353088 RING1 ring finger protein 1 This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34730650 34734863 + 33176286 33180499 + 33208509 33212722 + 1580863;6480464;9479058;9479060 23473600;25065329 10369680;10825164;11171983;11583618;12004135;12167161;12167701;12183370;12477932;12589020;14574404;14647293;14999091;15009096;15386022;15489334;15710417;16359901;16624538;16751658;16943429;17134822;17468742;17936708;18029348;18624398;18830248;19047128;1906426;19412891;19451220;19549727;19636380;19851445;19913121;19956605;20601937;20628086;20800574;20811636;20819778;21125401;21139048;21282530;21530438;21549307;21596310;21832049;21890473;21988832;22325352;22493164;22897849;22907436;23000965;23022380;23455922;23740775;24163370;24457600;24711370;24816145;24903147;7681583;9199346;9205114;9858531 6015 Q06587 ABBA01038138;AI828228;AK289355;AK297552;AK301010;AK301378;AL031228;AL645940;AL713971;AL844527;AMYH02013481;BC002922;BC051866;BI259576;BT007352;CH471081;CR547129;CR759733;CR759786;CR847841;NM_002931;Z14000 AAH02922;AAH51866;AAP36016;ABM83883;ABM87203;BAF82044;BAG59945;BAG62627;BAG62919;CAA20235;CAA78389;CAI95620;EAX03683;EAX03684;NP_002922;Q06587 Hs.631989 1645880;1660503;1770207;1798086;2114924;2158587 RH46773;RING1_2682;SGC35586;SHGC-31083;STS-R94868;STS-Z14000 RING1A;RNF1 E3 ubiquitin-protein ligase RING1;OTTHUMP00000029416;polycomb complex protein RING1;really interesting new gene 1 protein APPROVED protein-coding ENSG00000204227 HGNC:10018 03624 602045 REVIEWED 1323125 RIOK2 RIO kinase 2 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); PARTICIPATES IN ribosome biogenesis pathway; INTERACTS WITH 2-methylcholine; copper(2+) sulfate; cyclosporin A 5 5 5 q15 92380971 92403748 - 96496571 96519005 - 97160867 97183301 - 1580863;6480464;6907045 12477932;14702039;15489334;16183636;16344560;17081983;19564402;19578876;21048991;21139048;21832049;21880710;21906983;21963094;21988832;22113938;22505724;22939629;23455922;23459592;24250222;24654937;24797263;24816145;8125298 55781 D6RB96;H0Y8R4;H0Y919;Q9BVS4 ABBA01069223;ABBA01069224;AC008865;AC008883;AK001697;AK002021;AK225348;AMYH02011838;AMYH02011839;BC000953;CA415109;CH471084;DB240299;NM_001159749;NM_018343;XM_006714657 AAH00953;BAA91844;BAA92040;EAW96088;NP_001153221;NP_060813;Q9BVS4;XP_006714720 Hs.27021 1664179;1685998;2173803 D5S1837;D5S1936;RH94324 FLJ11159;RIO2 OTTHUMP00000158911;OTTHUMP00000222868;serine/threonine-protein kinase RIO2 APPROVED protein-coding ENSG00000058729 HGNC:18999 10193 VALIDATED 1314499 RIOK1 RIO kinase 1 This gene includes two alternatively spliced transcript variants, which encode different isoforms. The function of this gene has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p24.3 8619806 8648013 + 7390062 7418270 + 7389829 7418037 + 6480464;6907045;8554872 12384809;12477932;14702039;15324660;15489334;16183636;18271526;19322201;21081503;21139048;21832049;21890473;22072790;22268729;23084401;23184937;23246001;23398456;23459592;24816145 83732 E9PFQ8;Q9BRS2;Q9H2L9 ABBA01022041;AF258661;AK054568;AK314467;AL138878;AL139095;AL834277;AMYH02013061;AY094356;BC000811;BC006104;CH471087;NM_031480;NM_153005;XM_005249446 AAG44659;AAH06104;AAM15729;BAB70761;BAG37075;CAD38952;EAW55210;NP_113668;NP_694550;Q9BRS2;XP_005249503 Hs.437474 1339819;1698084 D6S1640;RH102574 AD034;FLJ30006;MGC12903;RRP10;bA288G3.1 OTTHUMP00000015999;prematurely truncated due to insertion of intronic sequence;serine/threonine-protein kinase RIO1 APPROVED protein-coding ENSG00000124784 HGNC:18656 17978 REVIEWED 5129413 RIOK3P1 RIO kinase 3 pseudogene 1 13 13 13 q22.2 56300990 56302785 + 75402630 75404425 + 74828493 74830288 + 122145 ABBA01021636;AL590063;AMYH02028274;NG_002288 1780312 G67149 APPROVED pseudo HGNC:39714 INFERRED 1321961 RIOK3 RIO kinase 3 This gene was identified by the similarity of its product to the Aspergillus nidulans SUDD protein, an extragenic suppressor of the heat-sensitive bimD6 mutation that fails to attach properly to the spindle microtubules at a restrictive temperature. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 18 18 18 q11.2 17848659 17878896 + 21032787 21063104 + 23452823 23483137 + 6480464 12477932;14702039;15489334;16177791;16196087;16344560;17353931;18029348;19050074;19285159;19322201;21139048;21890473;21906983;21963094;21988832;22418843;22505724;23940030;24807708;24816145;9602165 8780 B0YJ89;B4E1Q4;J3QLP4;J3QQL5;O14730 ABBA01022634;ABBA01022635;AC026634;AF013591;AK024958;AK057292;AK303938;AK304571;AK310783;AMYH02034415;BC028360;BC039729;BQ221110;BX640929;CH471088;DB054065;EF445025;NM_003831 AAC26080;AAH28360;AAH39729;ACA06067;BAG51898;BAG64866;BAG65362;EAX01151;EAX01152;EAX01153;NP_003822;O14730 Hs.445511;Hs.728452 1679878;5014063;5016781;5037552;5491563 D15S1390;D8S2279;MARC_21325-21326:1032965451:1;RH11856;SHGC-67307 DKFZp779L1370;SUDD OTTHUMP00000162631;homolog of the Aspergillus nidulans sudD gene product;serine/threonine-protein kinase RIO3;sudD (suppressor of bimD6, Aspergillus nidulans) homolog;sudD homolog;sudD suppressor of Aspergillus nidulans bimD6 homolog;sudD suppressor of bimD6 homolog APPROVED protein-coding ENSG00000101782 HGNC:11451 04659 603579 REVIEWED 1342902 RIPK3 receptor-interacting serine-threonine kinase 3 The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 4669852 4673867 - 24805227 24809242 - 24336021 24340036 - 1580863;6480464;7777167;7777169;7777166;8554872 22000287;22908283;23954861 10339433;10358032;10818227;11734559;12477932;15064760;15208320;15814722;15896315;16344560;16429275;16844082;17114179;17827388;18025550;18442983;18533105;18941233;19524512;19524513;19590578;19690434;20354226;20413098;20618440;20634891;21052097;21153365;21894190;21903422;21931591;21988832;22421439;22817896;22864571;23071110;23612963;24095729;24314238;24322838;24703947 11035 H0YJN5;Q9Y572 ABBA01061341;AF156884;AK075275;AK296140;AK296309;AL096870;AMYH02028880;AY453693;AY494982;AY494983;BC041668;BC062584;BE676675;CH471078;DB274842;NM_006871 AAD39005;AAH62584;AAS16359;AAS75516;AAS75517;BAG58881;BAG59007;EAW66021;EAW66022;NP_006862;Q9Y572 Hs.268551 1679333 RH91896 RIP-3;RIP3 OTTHUMP00000164791;RIP-like protein kinase 3;receptor interacting protein 3;receptor-interacting protein 3;receptor-interacting serine/threonine-protein kinase 3 APPROVED protein-coding ENSG00000129465 HGNC:10021 09315 605817 REVIEWED 1641968 RIPPLY1 ripply transcriptional repressor 1 This gene encodes a protein similar to a zebrafish protein which acts as a transcriptional repressor in and is required for somite segmentation in zebrafish embryos (PMID: 16326386). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] X X X q22.3 106614678 106617946 - 106143293 106146561 - 106900063 106903331 - 6480464 12477932;16326386;20346937;23143602 92129 Q0D2K3 ABBA01035833;ABBA01035834;AL591849;AMYH02040209;BC007652;BC101998;BC105691;BC105692;BC110436;BC127250;BX106639;CH471120;NG_016445;NG_022934;NM_001171706;NM_138382 AAI05692;AAI05693;AAI10437;AAI27251;EAX02733;NP_001165177;NP_612391;Q0D2K3 Hs.334726 2172079 SGC38161 RP11-321G1.2 OTTHUMP00000023791;OTTHUMP00000023792;ripply1 homolog APPROVED protein-coding ENSG00000147223 HGNC:25117 300575 VALIDATED 1605055 RINT1 RAD50 interactor 1 INVOLVED IN regulation of signal transduction involved in mitotic G2 DNA damage checkpoint; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH all-trans-retinoic acid; hydrogen peroxide; methyl methanesulfonate 7 7 7 q22.3 99977643 100013242 + 105172532 105208131 + 105532085 105567684 + 6480464;8554872 11096100;12477932;12853948;14702039;15029241;15272311;15489334;15824131;16169070;16571679;16600870;16713569;17470549;17699596;18029348;19369418;20360068;21139048;21963094;22939629;23074196;23885118;24722188;24816145;9847074 60561 C9J5S3;F8WAZ2;F8WC46;F8WDC5;Q6NUQ1 ABBA01057944;ABBA01057945;ABBA01057946;AC073073;AF317622;AK021847;AK055508;AK057757;AK308126;AL832825;AMYH02016481;AMYH02016482;BC007120;BC068483;CH236947;CH471070;NM_021930;XM_005250524 AAG42101;AAH07120;AAH68483;AAQ96849;AAQ96850;ADR82734;BAB13910;BAG51530;EAW83366;EAW83367;NP_068749;Q6NUQ1;XP_005250581 Hs.531388 DKFZp667H2324;RINT-1 OTTHUMP00000212078;RAD50-interacting protein 1;hsRINT-1 protein-coding ENSG00000135249 HGNC:21876 15250 610089 VALIDATED 1323281 RIPK4 receptor-interacting serine-threonine kinase 4 The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 28309333 28337056 - 43159529 43187249 - 41739369 41767089 - 1580863;6480464;8699517;7240710;8554872 10830953;10948194;11278382;12446564;12477932;12676934;12747765;14702039;17039240;18025152;18511573;19818768;20379614;21903422;21931591;22197488;23371553;8889548;9199174 54101 B7ZAU7;P57078;Q96T11;Q9H4D1 AB047783;ABBA01012805;AF308292;AJ278016;AK027424;AK296685;AK302592;AK316412;AL137448;AMYH02037864;AMYH02037865;AP001615;AP001616;AP001743;BC035755;BC110617;BC110618;BM979316;CH471079;KF457324;NG_032113;NM_020639 AAG48260;AAI10618;AAI10619;ACE86829;ACE87515;BAA95526;BAB55102;BAB56136;BAH12413;BAH13756;BAH14783;CAB70741;CAC04247;EAX09589;EAX09590;EAX09591;NP_065690;P57078 Hs.517310 1689015;5015810 GDB:182516;RH99224 ANKK2;ANKRD3;DIK;MGC129992;MGC129993;NKRD3;PKK;PPS2;RIP4 OTTHUMP00000109266;PKC-delta-interacting protein kinase;ankyrin repeat domain 3;ankyrin repeat domain-containing protein 3;protein kinase C-associated kinase;receptor-interacting serine/threonine-protein kinase 4;serine/threonine-protein kinase ANKRD3 APPROVED protein-coding ENSG00000183421 HGNC:496 10419 263650;605706 REVIEWED 1604194 RICTOR RPTOR independent companion of MTOR, complex 2 RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008] 5 5 5 p13.1 38824519 38961093 - 38938022 39074505 - 38937920 39074408 - 1625616;2308795;2307383;6480464;6484113;6907045;8554872 16885148;17110594;19339977 12056414;12477932;14702039;15268862;15302935;15342556;15467718;15718470;15809305;16183647;16221682;16603397;16919458;16959881;16962653;17043309;17329400;17386266;17461779;17565979;17991864;18030348;18089801;18235224;18339839;18505677;18566586;18566587;18570873;18776922;18831768;19018001;19145465;19322201;19341427;19402821;19446321;19619545;19724909;19875983;19934294;19995915;20226010;20338997;20412774;20427287;20438709;20501647;20819778;20832730;20978191;21045808;21139048;21170086;21177249;21321085;21339740;21343617;21795477;21890473;21906983;21963094;21987572;22080063;22084251;22285861;22384145;22505724;22544753;22777355;22990118;23000965;23067215;23251661;23297343;23455608;23503572;23555046;23762398;23872070;23898069;24006489;24086535;24255178;24270265;24457600;24462769;24816145;8889548 253260 D6R9S6;Q6R327 AB082530;ABBA01024204;ABBA01024205;ABBA01024206;ABBA01024207;ABBA01024208;AC008964;AC026713;AC109467;AK024327;AK094538;AK127305;AK128358;AL834497;AMYH02011196;AY515854;BC029608;BC051729;BC137163;BC137164;BC144509;BP245264;CH471119;CN478622;CR749280;KC876965;NM_001285439;NM_001285440;NM_152756;XM_005248278;XM_006714463 AAH29608;AAH51729;AAI37164;AAI37165;AAI44510;AAS79796;ABM82598;ABM85784;BAC02708;CAD39155;CAH18135;EAW55978;EAW55979;EAW55980;NP_001272368;NP_001272369;NP_689969;Q6R327;XP_005248335;XP_006714526 Hs.407926 1673322;1717047;2127156;2169908;5014051;5015404;5015619;5016478;5020740;5020946;5020988;5022200;5022450;5022576;5022578;5022588;5024413;5037552;5109281 D10S275;D11S3114;D1S1361;D1S1423;D1S1425;D22S958;D5S1597E;D5S2422;D5S2570;D8S2278;D8S2279;G18152;GDB:434012;L17705;L17809;L17877;L17971;L18426;RH124086 AVO3;DKFZp686B11164;KIAA1999;MGC39830;PIA;hAVO3;mAVO3 AVO3 homolog;OTTHUMP00000221128;OTTHUMP00000221129;TORC2-specific protein AVO3;pianissimo;rapamycin-insensitive companion of mTOR APPROVED protein-coding ENSG00000164327 HGNC:28611 10682 609022 VALIDATED 1318761 RIPPLY3 ripply transcriptional repressor 3 INVOLVED IN heart development (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); pharyngeal system development (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 7,12-dimethyltetraphene; actinomycin D 21 21 21 q22.2 23577251 23590347 + 38378456 38391959 + 37006156 37019659 + 6480464;8554872 10814524;10830953;22354841 53820 P57055 AB037158;AB037159;AB037160;AB037161;ABBA01057409;AMYH02037793;AP000704;CH471079;NM_018962;XM_005260993 AAI46276;AAI56712;BAA96867;BAA96868;BAA96869;BAA96870;EAX09729;EAX09730;NP_061835;P57055;XP_005261050 Hs.254560 5022322;5037552 D11S2560;D8S2279 DSCR6 Down syndrome critical region gene 6;OTTHUMP00000109050;down syndrome critical region protein 6;ripply3 homolog APPROVED protein-coding ENSG00000183145 HGNC:3047 10923 609892 VALIDATED 1343782 RIT1 Ras-like without CAAX 1 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 1 1 1 q22 128940503 128954081 - 155867599 155881193 - 155897808 155911402 - 1580863;6480464;8699517;7240710;8554872 10545207;10712923;12477932;12668729;14767908;15632082;15761153;16169070;17360488;17474147;17636018;18303015;18332868;18846501;19030229;19458171;21444726;23038261;23123784;23128233;23602568;23667514;23765226;23770287;23791108;8824319;8889548;8918462 6016 Q92963;V9GY29;V9GYC3 ABBA01016680;ABBA01016681;AF084462;AF493923;AK298768;AK314239;AL139128;AL355388;AMYH02001956;BC104186;BC104187;BI916790;BM546985;BQ918446;BU674989;CH471121;CR407639;NG_033885;NM_001256820;NM_001256821;NM_006912;U71203;U78165;Y07566 AAB42213;AAB64246;AAD13021;AAI04187;AAI04188;AAM12637;BAG36908;BAG60910;CAA68851;CAG28567;EAW53024;NP_001243749;NP_001243750;NP_008843;Q92963 Hs.491234 1664279;1753055;1773133;2138356;2153465;5091986 D1S3503;RH17869;RH69638;RH70962;SHGC-34121;SHGC-82927 MGC125864;MGC125865;NS8;RIBB;RIT;ROC1 GTP-binding protein Rit1;GTP-binding protein Roc1;OTTHUMP00000015932;OTTHUMP00000015933;Ric-like, expressed in many tissues;ras-like protein expressed in many tissues;ras-like without CAAX protein 1 APPROVED protein-coding ENSG00000143622 HGNC:10023 10195 609591;615355 REVIEWED 1319357 RIPK2 receptor-interacting serine-threonine kinase 2 This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008] 8 8 8 q21 86964831 86998139 + 90769335 90803292 + 89757733 89791064 + 1580863;6480464;6484113;6907045 10224040;10329646;10559258;10719670;10880512;11087742;11432859;11487608;11536016;11894097;11894098;12138198;12459189;12477932;12755636;12761501;12775719;12938929;12975309;14638696;15276183;15489334;15620648;15657077;15691841;15761153;16189514;16344560;16354923;16418290;16421571;16492792;16498402;16517750;16582588;16824733;16920334;16997282;17054981;17075290;17192257;17348859;17353931;17355968;17468049;17851464;17947236;17965022;18029348;18079694;18329614;18342009;18359207;18426885;18566542;19121870;19336552;19337385;19406482;19464198;19573080;19592251;19667203;19693652;19721713;19773279;19911254;20018961;20025869;20125193;20645315;20800603;20949042;21048031;21097508;21123652;21139048;21757725;21862576;21887730;21903422;21906983;21931591;22075569;22484241;22504414;22547678;22607974;22615316;22665475;22685397;22815893;22828789;22993319;23128233;23300079;23333941;23437331;23455924;23818254;23892723;24015287;24250222;24366254;25015289;9575181;9642260;9705938 8767 E5RGK6;E7ERW9;O43353 ABBA01037399;ABBA01037400;AC004003;AF027706;AF064824;AF078530;AF117829;AI824070;AK075213;AK301448;AMYH02018389;AY358813;AY358814;AY524045;AY562996;BC004553;CH471060;DA040898;KC877257;NG_033016;NM_003821;XM_005251092 AAC24561;AAC25668;AAC27722;AAC34970;AAH04553;AAQ89172;AAQ89173;AAS75586;AAS94254;BAG52085;BAH13484;EAW91655;EAW91656;NP_003812;O43353;XP_005251149 Hs.103755 1647072 RH48506 CARD3;CCK;GIG30;RICK;RIP-2;RIP2 CARD-carrying kinase;CARD-containing IL-1 beta ICE-kinase;CARD-containing interleukin-1 beta-converting enzyme (ICE)-associated kinase;CARD-containing interleukin-1 beta-converting enzyme-associated kinase;CARDIAK;OTTHUMP00000224990;RIP-like-interacting CLARP kinase;growth-inhibiting gene 30;receptor interacting protein 2;receptor-interacting protein (RIP)-like interacting caspase-like apoptosis regulatory protein (CLARP) kinase;receptor-interacting protein 2;receptor-interacting serine/threonine-protein kinase 2;tyrosine-protein kinase RIPK2 APPROVED protein-coding ENSG00000104312 HGNC:10020 04585 603455 REVIEWED 1316971 RIT2 Ras-like without CAAX 2 RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008] 18 18 18 q12.3 37131398 37503903 - 40323183 40695676 - 42743218 43115692 - 6480464;8554872 10545207;10712923;11329013;11703925;12099688;12477932;12934100;15489334;16122393;16157584;17474147;19734545;20379614;20489179;21738487;21832049;21957239;22451204;22491018;23007406;23602568;23635658;23805044;23870195;24024966;8824319;8918462 6014 K7EMR8;Q99578 ABBA01022357;ABBA01022358;ABBA01022359;ABBA01022360;ABBA01022361;ABBA01022362;ABBA01022363;ABBA01022364;AC025480;AC091169;AC100779;AF493922;AK313823;AMYH02034613;AMYH02034614;AMYH02034615;AY563951;BC018060;BG188523;CH471088;NM_001272077;NM_002930;U71204;U78164;U78166;Y07565 AAB42214;AAB64245;AAB64247;AAH18060;AAM12636;AAS75332;ADZ15833;BAG36558;CAA68850;EAX01432;NP_001259006;NP_002921;Q99578 Hs.464985 1336748;1341093;1651091;1659525;1678277;1687566;1720361;1727741;1750861;1753967;1763079;2141253;2179268;2182631;7187028 074ZA9;AFM312we9;D18S1123;D18S65;G18030;G63135;RH123932;RH28698;RH45940;RH70961;SHGC-101555;SHGC-104640;SHGC-146815;SHGC-53572 RIBA;RIN;ROC2 GTP-binding protein Rit2;GTP-binding protein Roc2;OTTHUMP00000163445;Ric-like, expressed in neurons;ras-like protein expressed in neurons;ras-like without CAAX protein 2 APPROVED protein-coding ENSG00000152214 HGNC:10017 15253 609592 VALIDATED 1604749 RIPPLY2 ripply transcriptional repressor 2 INVOLVED IN somite rostral/caudal axis specification (ortholog); somitogenesis (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH arsenite(3-); paracetamol; choline (ortholog) 6 6 6 q14.2 84996340 85000589 + 84562985 84567234 + 83853266 83857515 + 6480464 12477932;16326386;16341674;17531978;19913121;20511563;20628086 134701 Q5TAB7 ABBA01040459;AI279191;AL139232;AMYH02014019;AW511485;BC130460;BC132968;BM782014;CH471051;NM_001009994;NR_103525 AAI30461;AAI32969;ADR83465;EAW48651;NP_001009994;Q5TAB7 Hs.149454 C6orf159;dJ237I15.1 OTTHUMP00000016800;ripply2 homolog APPROVED protein-coding ENSG00000203877 HGNC:21390 16658 609891 VALIDATED 1602853 RITA1 RBPJ interacting and tubulin associated 1 ENCODES a protein that exhibits tubulin binding; INVOLVED IN negative regulation of Notch signaling pathway; nuclear export; neurogenesis (ortholog); FOUND IN centrosome; cytoplasm; nucleus; INTERACTS WITH cobalt dichloride; copper atom; copper(0) 12 12 12 q24.13 113250379 113256943 + 113623342 113630169 + 113185526 113192368 + 6480464 12477932;14702039;15342556;16344560;17207965;21102556;21832049;24308154;8125298;8619474;9110174 84934 Q96K30 AA594422;ABBA01019949;AC089999;AK027733;AK027741;AK075358;AK123762;AK222908;AMYH02027233;AMYH02027234;AMYH02027235;AX077432;AX880378;AY007158;BC022092;BP212183;BX366456;CH471054;DA207985;NM_001286215;NM_032848;XM_005253972 AAH22092;ADQ31897;BAB55328;BAB55333;BAC11568;BAD96628;BAG53956;CAC32398;CAE90924;EAW98041;EAW98042;NP_001273144;NP_116237;Q96K30;XP_005254029 Hs.524762 1650071;2182546 RH45703;STS-H97765 C12orf52;FLJ14827;RITA OTTHUMP00000241775;OTTHUMP00000241776;OTTHUMP00000241778;RBP-J interacting and tubulin associated;RBPJ-interacting and tubulin-associated protein;RBPJ-interacting and tubulin-associated protein 1;hypothetical protein LOC84934 APPROVED protein-coding ENSG00000139405 HGNC:25925 08606 VALIDATED 1320101 RLBP1 retinaldehyde binding protein 1 The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008] 15 15 15 q26 66154386 66166204 - 89753098 89764922 - 89209867 89221691 - 1599618;1599620;1580863;6480464;6903223;7240710;8547535;8547536;8554872;8699517 11176989;11453974;20188572;20212494;23701314 10102298;10102299;10654176;11329013;11868161;12477932;12536144;12536149;14718298;14744877;15234312;15489334;15865448;15953459;17065479;17249612;17286855;1733864;17652763;18317528;18344446;19165527;19846785;20301590;20591486;20696998;20801516;21447491;21832049;21904838;22171637;22183382;22551409;23929416;24921169;3198595;7929238;8698076;8889548;9068383;9326942;9541407 6017 H3BN92;H3BTN3;P12271 ABBA01053006;ABBA01053007;AC124068;AK312457;AMYH02031018;BC004199;BF940774;BG205561;BM704704;BM921294;BX490622;CH471101;DQ980611;J04213;L34219;NG_008116;NM_000326 AAA60251;AAA65123;AAH04199;BAG35364;EAX02038;NP_000317;P12271 Hs.1933 1744405;1744407;2116416;2153380 GDB:453389;GDB:453467;RH17590;WI-7222 CRALBP;MGC3663 cellular retinaldehyde-binding protein;cellular retinaldehyde-binding protein-1;retinaldehyde-binding protein 1 APPROVED protein-coding ENSG00000140522 HGNC:10024 01572 136880;180090;607475;607476 REVIEWED 1603981 RLFP1 rearranged L-myc fusion pseudogene 1 4 4 4 q26 114309041 114310560 - 117016648 117018256 - 116095492 116097100 - 8545128 57008 ABBA01063858;AC027613;AMYH02009969;NG_013277;U22379 RLFP APPROVED pseudo HGNC:16738 INFERRED 1320896 RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1 ENCODES a protein that exhibits death domain binding; death receptor binding; identical protein binding; INVOLVED IN amyloid fibril formation; apoptotic process; cellular protein catabolic process; PARTICIPATES IN ceramide signaling pathway; FasL mediated signaling pathway; Trail mediated signaling pathway; ASSOCIATED WITH Carcinoma, Squamous Cell; Lichen Planus; Retinitis Pigmentosa (ortholog); FOUND IN death-inducing signaling complex; mitochondrion; receptor complex; INTERACTS WITH 17beta-estradiol; arsenous acid; benzo[a]pyrene 6 6 6 p25.2 4306075 4344292 + 3064201 3115421 + 3063967 3115187 + 1580863;2292150;5685014;6480464;6484113;6907045;7777166;7777170;7777168;7800730 12655295;19778795;20368033;21235323;22908283;23085193 10339433;10356400;10358032;10409763;10521396;10523854;10744744;10755617;10837247;10880512;10980203;11002417;11002422;11101870;11116146;11181075;11262391;11369754;11429546;11479302;11734559;11830587;11854271;12215447;12477932;12692549;12753742;12761501;12887920;14532286;14574404;14585990;14644197;14653779;14702039;14754897;15001576;15064760;15121855;15144186;15175328;15258597;15276183;15310755;15327770;15489334;15572679;15814722;16115877;16127453;16260783;16291755;16360037;16507998;16543241;16547522;16603398;16611992;16825191;16968706;17047155;17235653;17296724;17301840;17306544;17384642;17389591;17448597;17449468;17638906;17702576;17951993;17979836;17981138;17996648;18022363;18029035;18029348;18067272;18178551;18212736;18246070;18299187;18442983;18450452;18450748;18570872;18621737;18635966;18724939;18813792;18939944;18941233;18949366;18990758;19060883;19131965;19151112;19176810;19219602;19287455;19336552;19373245;19453261;19524513;19573080;19590578;19629486;19632771;19641134;19734906;19773279;19773432;19815541;19854138;19890662;19910467;19913121;20005846;20056645;20354226;20413098;20448643;20550618;20567846;20577214;20618440;20628086;20801175;20805296;20825417;20936779;21048031;21052097;21113135;21139048;21148036;21183682;21266470;21279667;21282461;21331077;21331078;21383699;21408173;21419663;21421854;21458669;21460625;21525013;21576359;21606198;21613257;21620750;21724995;21737329;21810480;21817100;21903422;21906983;21931591;21988832;22099304;22173242;22179575;22212761;22274400;22297296;22362767;22550173;22580278;22585859;22607974;22659130;22674009;22675546;22685397;22732732;22733818;22817896;22848449;22858542;22864571;22891283;22922561;22927431;22939624;23007157;23032187;23051914;23071110;23313255;23319823;23524849;23545938;23746843;23770847;23827681;23840441;23901138;23972990;24079414;24130170;24314238;24361886;24398693;24425875;24434549;24577083;24726327;24735611;24821786;24839885;24980434;7538908;7758105;8612133;8702708;8985253;9020361;9044836;9430227;9740801;9927690 8737 Q13546 AB208926;ABBA01048621;AJ420482;AK096523;AK304701;AK314176;AL031963;AMYH02012994;AY682848;BC126254;BC126256;BX348786;CH471087;NM_003804;U25994;U50062;XM_005249457;XM_005249458;XM_006715236;XM_006715237 AAC32232;AAC50137;AAI26255;AAI26257;AAT74626;ADR83242;BAD92163;BAG36858;BAG53315;BAG65471;EAW55115;EAW55116;EAW55117;EAW55118;NP_003795;Q13546;XP_005249514;XP_005249515;XP_006715299;XP_006715300 Hs.519842 1767367;1778043;2130536 D6S1199E;D6S1338;RH48319 FLJ39204;RIP;RIP-1;RIP1 OTTHUMP00000015955;cell death protein RIP;receptor interacting protein;receptor-interacting protein 1;receptor-interacting serine/threonine-protein kinase 1;serine/threonine-protein kinase RIP protein-coding ENSG00000137275 HGNC:10019 04583 603453 VALIDATED 1313242 RLF rearranged L-myc fusion ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN chromosome organization; DNA integration; positive regulation of transcription from RNA polymerase II promoter (ortholog); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-nicotine; cobalt dichloride 1 1 1 p32 38909409 38988982 + 40627041 40706593 + 40161369 40240921 + 1580863;6480464 10545207;12477932;14597674;15174051;15231748;15489334;1649386;16696853;16710414;17000644;17081983;1851085;19471022;21906983;21963094;8545128 6018 Q13129 AB209099;ABBA01023182;ABBA01023183;ABBA01023184;ABBA01023185;ABBA01023186;ABBA01023187;AK307662;AL050341;AL356424;AL512599;AL929567;AMYH02000844;AMYH02000845;AMYH02000846;AMYH02000847;BC113666;BM542854;CH471059;NM_012421;U22377 AAC50396;AAI13667;ADR83298;BAD92336;EAX07236;NP_036553;Q13129 Hs.205627 1647441;1648135;1654320;1660427;1666142;1674599;1691996;1745041;1851366;2139653;2139655;2183394;2184325;2219636;5093102;5102519 A006I34;A009G05;AL033651;D1S2131;G20854;G32521;GDB:593224;RH143286;RLF__5505;SHGC-74649;SHGC-74651;SHGC-74652;SHGC-74663;SHGC-74705;WI-11868;WI-12261 MGC142226;ZN-15L;ZNF292L OTTHUMP00000006395;Zn-15 related;rearranged L-myc fusion gene protein;rearranged L-myc fusion sequence;zinc finger protein Rlf;zn-15-related protein protein-coding ENSG00000117000 HGNC:10025 01614 180610 VALIDATED 5131588 RLIMP2 ring finger protein, LIM domain interacting pseudogene 2 1 1 113668114 113669577 - 113125492 113126955 - 100533731 ABBA01068449;AL357055;AMYH02001761;NG_028828 pseudo HGNC:39683 INFERRED 5131589 RLIMP1 ring finger protein, LIM domain interacting pseudogene 1 13 13 41192875 41195484 + 40618738 40621347 + 100533695 ABBA01021296;AL355132;AMYH02027907;NG_028876 pseudo HGNC:39682 INFERRED 1352466 RLIM ring finger protein, LIM domain interacting The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009] X X X q13-q21 74086277 74117928 - 73802811 73834461 - 74582976 74614626 - 1580863;6480464 10431247;10508479;11013082;11882901;12477932;12874135;14702039;16196087;17437998;18029348;18073335;18775313;19117995;19164295;19549727;19945382;20211142;20423330;21903422;21906983;21945933;21963094;21987572;21988832;22379092;22493095;22493164;22505724;22596162;23105109;23650532;23904271;24686088 51132 Q9NVW2 ABBA01059537;ABBA01059538;ABBA01059539;AF086467;AF155109;AI968256;AJ271670;AK001334;AK098789;AK123088;AK124877;AK127880;AK314760;AL513007;AL712605;AMYH02039782;BC013357;BF686000;BG259627;BX648613;CH471104;NG_013258;NM_016120;NM_183353 AAD42875;AAH13357;ABM84426;ABM87497;BAA91632;BAG37298;CAC14228;EAW98639;EAW98640;NP_057204;NP_899196;Q9NVW2 Hs.653288 1706650;1711468;1770014;1770016;2136536;2176145;2217916;5015649;5015861;5015959;5022200;5022450;5022578;5024413;5109281;7183748;7185938 A006C14;D10S16;D10S2448;D10S275;D13S1095E;D1S1423;D1S1425;DXS128;DXS8342;G20696;G49191;L17877;L18426;RNF12_3823;SHGC-82809;WI-15437 DKFZp686N06224;FLJ25923;FLJ41093;FLJ42887;FLJ45986;MGC15161;NY-REN-43;R-LIM;RNF12 E3 ubiquitin-protein ligase RLIM;E3 ubiquitin-protein ligase RNF12;LIM domain-interacting RING finger protein;OTTHUMP00000023574;OTTHUMP00000023575;RING finger LIM domain-binding protein;renal carcinoma antigen NY-REN-43;ring finger protein 12;ring zinc finger LIM domain binding protein;ring zinc finger protein NY-REN-43antigen APPROVED protein-coding HGNC:13429 02304 300379 REVIEWED 1344895 RLN1 relaxin 1 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013] 9 9 9 p24.1 5260593 5265497 - 5307637 5339873 - 5307637 5339873 - 1580863;6480464 10601981;10750025;11809971;12477932;12865351;15164053;15489334;15695505;1572287;15956699;15956701;15956702;15956731;15956736;15956746;15956756;16172427;16303766;1656049;17363522;17509748;17804602;18035445;18161477;18718015;19101597;19178384;19329780;19467703;19481729;19695764;19833242;20023247;2005217;20237496;20332215;2040595;20655530;2076464;20858209;21696394;22180889;22698078;23661525;23704950;23748429;24640561;24640563;3963064;6298628;6548702;6548703;7829601;7958621;8735594;8800640;9346823;9730618 6013 P04808 A06846;A06926;A07364;A17329;ABBA01065414;ABBA01065415;AF057705;AF104934;AI363233;AL135786;AMYH02019083;AV742436;BC005956;CH471071;NM_006911;S82681;S83200;V00577;V00578;X00949;XM_005251541;XR_242512 AAD14429;AAD21967;AAH05956;ABM84228;ABM87467;CAA00599;CAA00603;CAA00658;CAA01325;CAA23838;CAA23839;CAA25461;EAW58767;EAW58768;EAW58769;NP_008842;P04808;XP_005251598 Hs.368996 1741579;1796690 GDB:181543;RLN1_1534 H1;H1RLX;RLXH1;bA12D24.3.1;bA12D24.3.2 OTTHUMP00000021026;preprorelaxin H1;prorelaxin H1;relaxin H1 APPROVED protein-coding ENSG00000107018 HGNC:10026 01560 179730 REVIEWED 1602985 RINL Ras and Rab interactor-like ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); INVOLVED IN endocytosis (ortholog); positive regulation of GTPase activity (ortholog); FOUND IN ruffle (ortholog); INTERACTS WITH hydralazine; paracetamol; valproic acid 19 19 19 q13.2 36160912 36171331 - 39358470 39368919 - 38867830 38878279 - 6480464 14702039;16344560;19913121;20628086;22291991 126432 M0QY08;M0QZ15;Q6ZS11 AA653541;AA779599;ABBA01040708;AC011455;AK124506;AK126119;AK127808;AK298327;AMYH02036082;BU196609;DA814564;NM_001195833;NM_198445;XM_006723015;XM_006723016 AAI52815;BAC87145;BAG60577;NP_001182762;NP_940847;Q6ZS11;XP_006723078;XP_006723079 Hs.446933 1335294;1664236;1734604;5015619;5015961;5037552;7187470 D11S3114;D15S1477;D19S613E;D7S511;D8S2279;WIAF-1625 FLJ44131;FLJ45909 ras and Rab interactor-like protein protein-coding ENSG00000187994 HGNC:24795 13517 VALIDATED 1349425 RMD1 rippling muscle disease 1 ASSOCIATED WITH Rippling muscle disease, 1 (inferred) 7240710 7936247 6022 7183716 D1S235 HGNC:10030 600332 1345239 RLN3 relaxin 3 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In the human there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3. RLN1 and RLN2 share high sequence homology. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. The protein encoded by this gene is a member of the relaxin family. The active form of the encoded protein consists of an A chain and a B chain but their cleavage sites are not definitely described yet. It may play a role in neuropeptide signaling processes. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 14032810 14035579 + 14139017 14141783 + 14028205 14030971 + 1580863;6480464 11689565;12036966;12477932;12506116;12686464;14522967;14522968;15465925;15649866;15845619;15956686;15956730;16365033;18434306;19152634;19778557;20023247;21229994;21693186;22257012;23018057;23251661;23994775;24802387;2834384 117579 K7ENX1;Q8WXF3 AB076563;ABBA01029697;AC022098;AF447451;AMYH02035597;AY358181;BC110069;BC140935;CH471106;NM_080864 AAI40936;AAL40345;AAQ88548;BAC53758;EAW84388;NP_543140;Q8WXF3 Hs.352155 H3;RXN3;ZINS4;insl7 insulin-like 7;insulin-like peptide 7;insulin-like peptide INSL7;prorelaxin H3;relaxin-3 APPROVED protein-coding HGNC:17135 06031 606855 VALIDATED 7243073 RMDN2-AS1 RMDN2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 2 2 p22.2 38177477 38263484 - 37950334 38036341 - 8554872 16344560 101410544 ABBA01074988;AC016689;AMYH02003619;AMYH02003620;DB142860;HG493854;KF456661;NR_102712 Hs.591566 AC016689.1 ncrna HGNC:41150 VALIDATED 1605570 RMDN2 regulator of microtubule dynamics 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 17beta-estradiol; bisphenol A; copper(2+) sulfate 2 2 2 p22.2 37993344 38135162 + 38152462 38294285 + 37925319 38067142 + 6480464;8554872 12477932;12975309;14702039;18070910;18676680;18936436;19170196;19625176;19692168;20379614;20932654;21139048 151393 B5MC85;C9JGB2;C9JUD5;F8WFC3;H7C2J3;Q96LZ7 ABBA01074988;ABBA01074989;AC009229;AC016689;AF435956;AK057516;AK095462;AMYH02003619;AMYH02003620;AY358269;BC024243;BQ017142;BR000689;BR000692;CH471053;DB458482;DB523982;HY022533;KF456661;NM_001170791;NM_001170792;NM_001170793;NM_144713;XM_005264161;XM_005264162;XM_006711953 AAH24243;AAM20907;AAQ88636;AAX88865;BAB71517;BAC04551;EAX00384;EAX00385;EAX00386;EAX00387;FAA00414;FAA00417;NP_001164262;NP_001164263;NP_001164264;NP_653314;Q96LZ7;XP_005264218;XP_005264219;XP_006712016 Hs.591566 1338122;1663664;1685073;1701338;1769419;1849299;2162194 D2S1346;D2S1348;D2S2571;RH104299;RH35889;RH92415;WIAF-1508 BLOCK18;FAM82A;FAM82A1;FLJ32954;FLJ38143;MGC33318;PRO34163;PYST9371;RMD-2;RMD2;RMD4;hRMD-2;hRMD-4 OTTHUMP00000158601;OTTHUMP00000201371;OTTHUMP00000201373;OTTHUMP00000201374;OTTHUMP00000202011;OTTHUMP00000202012;OTTHUMP00000202013;OTTHUMP00000202074;family with sequence similarity 82, member A;family with sequence similarity 82, member A1;microtubule-associated protein;regulator of microtubule dynamics protein 2 APPROVED protein-coding ENSG00000115841 HGNC:26567 08741 611872 VALIDATED 1602700 RMDN3 regulator of microtubule dynamics 3 INVOLVED IN cellular calcium ion homeostasis; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrial outer membrane; mitochondrion; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; lead(0) 15 15 15 q15.1 17795976 17815353 - 41028085 41047458 - 40735887 40755260 - 6480464;8554872 12477932;12975309;14702039;15324660;15609043;16820967;17207965;17353931;18029348;18070910;18771726;18854601;19012732;19124842;19691131;19773279;20360068;20627780;20877624;20936779;21139048;21163940;21513978;21900206;21972092;21988832;22544307;22939629;22990118;23444366 55177 H0YLG5;H0YLV7;H0YMB1;H0YNE5;Q96TC7 AB000782;ABBA01038432;AC012476;AJ242719;AK001441;AK025963;AK090731;AK092058;AK097286;AK123192;AK123282;AMYH02030251;AMYH02030252;AMYH02030253;AMYH02030254;AMYH02030255;AX083366;AX119045;AX876751;AY358793;BC008970;BC063844;BR000691;CH471125;NM_018145;XM_005254531 AAH08970;AAH63844;AAQ89153;ADQ31966;BAA91693;BAB15298;BAB46923;BAC85554;BAG52475;BAG53446;BAG53885;CAC33289;CAC38596;CAC39480;CAE89415;EAW92436;EAW92437;EAW92438;EAW92439;EAW92440;EAW92441;FAA00416;NP_060615;Q96TC7;XP_005254588 Hs.511067 1663914;1849309;1854708;2138428;2178998;5094042;5108390 A002D30;D15S709E;D5S447E;G33072;RH77788;STS-W60903;WI-20095 FAM82A2;FAM82C;FLJ10579;RMD-3;RMD3;hRMD-3;ptpip51 OTTHUMP00000160543;TCPTP-interacting protein 51;cerebral protein 10;family with sequence similarity 82, member A2;family with sequence similarity 82, member C;microtubule-associated protein;protein tyrosine phosphatase-interacting protein 51;regulator of microtubule dynamics protein 3 APPROVED protein-coding ENSG00000137824 HGNC:25550 07687 611873 PROVISIONAL 1348053 RLN2 relaxin 2 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The active form of the protein encoded by this gene consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013] 9 9 9 p24.1 5225495 5230205 - 5299864 5304611 - 5299864 5304611 - 1580863;6480464 10601981;10750025;11313185;11329013;12036966;12198562;12477932;12506116;12590922;12614168;15070778;15164053;15489334;15649866;1572287;15956696;15956711;15956719;15956727;15956728;15956746;15967869;16049981;1656049;16580233;16877360;17363522;17616862;17653089;18236174;18345514;18434306;18474430;18577758;18723073;19073841;19289144;19416221;20023247;20043231;2005217;20191607;20237496;2040595;2076464;20858209;21235507;21493587;21737831;21789713;21878627;22141456;22152813;22226177;22541981;22698078;22737225;22855207;22949764;23024363;23081913;23111608;23141816;23613637;23661524;23661525;23668059;23727041;23994775;24584737;6548702;6548703;7829601;7916973;7958621;8735594;9730618 6019 H0Y5M9;P04090 A06925;A17315;AA935560;ABBA01065415;ABBA01065416;AF057706;AF104935;AI033912;AL135786;AMYH02019083;BC126415;BC126419;BG206251;BX094853;CH471071;NM_005059;NM_134441;X00948 AAD21961;AAI26416;AAI26420;ADR83496;CAA00602;CAA01324;CAA25460;EAW58770;EAW58771;NP_005050;NP_604390;P04090 Hs.127032 1796690 RLN1_1534 H2;H2-RLX;RLXH2;bA12D24.1.1;bA12D24.1.2 H2-preprorelaxin;OTTHUMP00000021027;OTTHUMP00000196912;prorelaxin H2;relaxin H2;relaxin, ovarian, of pregnancy APPROVED protein-coding HGNC:10027 01561 179740 REVIEWED 1321710 RMI1 RecQ mediated genome instability 1 RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008] 9 9 9 q21.32 57166649 57190003 + 86595321 86618989 + 83980720 84004074 + 737633;6480464 12477932 12973351;14702039;15164053;15342556;15489334;15775963;15889139;16537486;16595695;17081983;17289582;17728255;17900800;18390547;18854154;19432957;19861517;19945966;20064461;20339536;20347428;20347429;20360068;20445207;20826341;20826342;21139048;21890473;21900206;21906983;22082156;22645306;23918034;24108125;24239288;24332808;24816145 80010 Q9H9A7 ABBA01034012;ABBA01034013;AJ420435;AK022950;AL354733;AL732446;AMYH02021125;BC020606;BC032494;BC039999;BC044571;BC053549;BC064937;BP327553;CH471089;DN997105;NM_024945;XM_005252211;XM_005252213 AAH20606;AAH32494;AAH39999;AAH53549;AAH64937;BAB14325;EAW62682;EAW62683;NP_079221;Q9H9A7;XP_005252268;XP_005252270 Hs.726327 1647925;1754361 SHGC-132380;SHGC-24378 BLAP75;C9orf76;FAAP75;FLJ12888;RP11-346I8.1 BLM-Associated Polypeptide, 75 kDa;BLM-associated protein 75 kDa;BLM-associated protein of 75 kDa;OTTHUMP00000021565;OTTHUMP00000021566;RMI1, RecQ mediated genome instability 1, homolog;chromosome 9 open reading frame 76;homolog of yeast RecQ-mediated genome instability 1 (RMI1);recQ-mediated genome instability protein 1 APPROVED protein-coding ENSG00000178966 HGNC:25764 09867 610404 VALIDATED 1606009 RMDN1 regulator of microtubule dynamics 1 FOUND IN microtubule (inferred); mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; cobalt dichloride 8 8 8 q21.3 83679304 83713917 - 87479627 87526567 - 86467398 86514338 - 6480464 10810093;12477932;15342556;15489334;17207965;18029348;18070910;20000738;20877624;21048031;21103663;21890473;21906983;22114354;23000965 51115 E5RGC8;E5RH53;E5RJC7;E5RJV0;E7EWZ7;H0YAP5;H0YB03;H0YB83;H0YBD9;H0YC27;H0YC67;Q6N086;Q96DB5 ABBA01037362;ABBA01037363;AC103817;AF151848;AK000672;AK297896;AK303122;AMYH02018362;BC008509;BC009671;BP199284;BP234465;BR000690;BX640636;CH471060;NM_001286707;NM_001286719;NM_016033;XM_005250944;XM_005250945;XM_005250946;XM_005250947;XM_005250948;XM_005250950;XM_006716573;XM_006716574;XM_006716575;XM_006716576 AAD34085;AAH09671;ADQ32313;BAG60217;BAG64228;CAE45784;EAW91638;EAW91639;FAA00415;NP_001273636;NP_001273648;NP_057117;Q96DB5;XP_005251001;XP_005251002;XP_005251003;XP_005251004;XP_005251005;XP_005251007;XP_006716636;XP_006716637;XP_006716638;XP_006716639 Hs.145386 1644263;1665697;1756391;2115495;2136436;2136438;2136440 D8S1679;D8S1972;RH78248;SHGC-143357;SHGC-36674;STS-H53731;WI-11972 CGI-90;FAM82B;FLJ20665;RMD-1;RMD1;hRMD-1 OTTHUMP00000224544;OTTHUMP00000224580;OTTHUMP00000224583;OTTHUMP00000224584;OTTHUMP00000224585;OTTHUMP00000224586;family with sequence similarity 82, member B;microtubule-associated protein;regulator of microtubule dynamics protein 1 APPROVED protein-coding ENSG00000176623 HGNC:24285 13042 611871 VALIDATED 1606180 RMI2 RecQ mediated genome instability 2 RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008] 16 16 16 p13.13 11608616 11614921 + 11439311 11445617 + 11345454 11351760 + 6480464 12477932;18029348;18923082;18923083;18978792;20064461;20347429;20360068;20601676;20826341;20826342;21139048;22939629;23128233;24108125 116028 I3L2E0;Q96E14 ABBA01006812;AC009121;AK123764;AMYH02031466;BC013040;BC022427;BC031016;BC039361;CH471112;NM_152308 AAH13040;AAH22427;AAH31016;AAH39361;BAG53958;EAW85155;NP_689521;Q96E14 Hs.347524 2142439 RH69533 BLAP18;C16orf75;MGC24665;hRMI2 BLM-associated protein of 18 kDa;OTTHUMP00000160222;RMI2, RecQ mediated genome instability 2, homolog;RecQ-mediated genome instability 2, S. cerevisiae, homolog of;recQ-mediated genome instability protein 2 APPROVED protein-coding ENSG00000175643 HGNC:28349 14497 612426 PROVISIONAL 1319942 RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae) The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 6 6 6 q25.1 152459873 152507180 - 151725897 151773316 - 151404762 151452181 - 6480464;8699517;8554872;7240710 12477932;14574404;14702039;15489334;16344560;20379614;20877624;21139048;21540461;23022098;23022099 55005 Q5SZ82;Q9NWS8 ABBA01025636;ABBA01025637;ABBA01025638;ABBA01025639;ABBA01025640;AK000634;AK026480;AK292339;AL590413;AL590543;AMYH02014725;BC012081;BC070271;BC106065;BC119683;BG547724;BG754516;CH471051;DA747450;HY331559;NG_033031;NM_001271937;NM_017909;XM_005267040 AAH12081;AAI06066;AAI19684;BAA91299;BAB15490;BAF85028;EAW47746;EAW47747;EAW47748;EAW47749;NP_001258866;NP_060379;Q9NWS8;XP_005267097 Hs.486835;Hs.744622 5020948 G35510 C6orf96;COXPD11;FLJ20627;MGC117362;MGC149570;MGC88260;RMD1;bA351K16;bA351K16.3 OTTHUMP00000017429;OTTHUMP00000017431;OTTHUMP00000017432;chromosome 6 open reading frame 96;required for meiotic nuclear division protein 1 homolog protein-coding ENSG00000155906 HGNC:21176 09858 614917;614922 REVIEWED 1604311 RMND5A required for meiotic nuclear division 5 homolog A (S. cerevisiae) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; cobalt dichloride 2 2 2 p11.2 86775282 86832969 + 86947414 87005164 + 86720291 86778041 + 6480464;8554872 12477932;14702039;15231748;15489334;15815621;17207965;17452337;17467196;21103663;21139048;21832049;21890473;21906983;22681319;23667531;24057215 64795 Q9H871 ABBA01075791;AC064848;AK022815;AK025448;AK303113;AL050139;AL832022;AMYH02004202;AMYH02004203;BC012165;BC047668;BU620245;CH471053;NM_022780 AAH12165;AAH47668;AAX88863;ACE86476;ACE87157;ADQ33185;BAB14257;BAB15135;BAG64219;EAW99442;EAW99443;EAW99445;NP_073617;Q9H871 Hs.75277 1340845;1647374;1648087;1654795;1659054;1715421;1740045;2114258;2116677;2128540;2139230;2147121;2186649;5125083 A002T29;A007J05;D2S2130;D2S417;RH120543;RH16449;RH41923;RH66712;RH68717;RH79869;SHGC-14271;SHGC-33869;SHGC-34184;WIAF-2105 CTLH;FLJ12753;FLJ13910;FLJ21795;GID2;GID2A;MGC78451;RMD5;p44CTLH C-terminal to LisH motif, 44 kDa;GID complex subunit 2 homolog A;OTTHUMP00000160759;protein RMD5 homolog A protein-coding ENSG00000153561 HGNC:25850 07841 VALIDATED 5129244 RLIMP3 ring finger protein, LIM domain interacting pseudogene 3 15 15 15 q21.2 26979694 26981565 + 50086441 50088294 + 49794244 49796097 + 645453 ABBA01039122;AC025040;AMYH02030396;NG_022128 1686228 RH92308 pseudo HGNC:39684 INFERRED 1604317 RMND5B required for meiotic nuclear division 5 homolog B (S. cerevisiae) INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; cyclosporin A 5 5 5 q35.3 173184980 173202461 + 177558002 177575567 + 178130961 178148570 + 6480464 12477932;12975309;14702039;15231748;15489334;15862967;16189514;16344560;19690564;21906983;21988832;23667531 64777 B3KSG5;D6R9A2;D6RER3;D6RFE6;D6RFK1;D6RIF9;F5H6G4;Q96G75 ABBA01009987;ABBA01009988;ABBA01009989;AC136632;AK025971;AK093481;AK093622;AK094065;AK122692;AK125337;AL137381;AL713670;AMYH02012859;AY359092;BC009911;CA440193;CH471165;DB053605;DQ494789;NM_001288794;NM_001288795;NM_022762;XM_005265969;XM_005265971;XM_005265972 AAH09911;AAQ89450;ABF50942;ACE86421;ACE87096;BAB15303;BAC04276;BAG52727;BAG54186;CAD28476;CAH56381;EAW53849;EAW53850;NP_001275723;NP_001275724;NP_073599;Q96G75;XP_005266026;XP_005266028;XP_005266029 Hs.27222 1337109;1666012;1667445;1735524;1770045;2152018;2157898;2159040;5016478;5022450;5022651 D10S275;D11S2921;D5S1610E;D5S1662E;D5S1937;D5S2008;G19193;GDB:434012;HSC09A082;RH18482;RH65289 DKFZp434K0926;FLJ22318;GID2;GID2B GID complex subunit 2 homolog B;OTTHUMP00000161498;OTTHUMP00000223984;protein RMD5 homolog B protein-coding ENSG00000145916 HGNC:26181 07985 VALIDATED 2298930 RMST rhabdomyosarcoma 2 associated transcript (non-protein coding) INTERACTS WITH all-trans-retinoic acid; methylmercury chloride; trichostatin A 12 12 12 q23.1 97524379 97593174 + 97856554 97987820 + 97465021 97533766 + 6480464 12082533;14702039;20062813;23563609;23932716 196475 ABBA01053301;ABBA01053302;ABBA01053303;AC007351;AC018659;AF429305;AF429306;AK056164;AMYH02027027;AMYH02027028;AMYH02027029;NR_024037 Hs.652568 1699280;1739381;1794100;1794102;1794104;2124117 D12S1375E;D12S1430;PMC310794P17;PMC310794P18;PMC310794P19;RH103222 LINC00054;NCRMS;NCRNA00054 ncrna ENSG00000255794 HGNC:29893 607045 PREDICTED 1349985 RMRP RNA component of mitochondrial RNA processing endoribonuclease This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010] 9 9 9 p21-p12 35591297 35591564 - 35657748 35658015 - 35657751 35658018 - 7240710;6480464;8554872;8699517 10352175;11207361;11940090;12107819;15096576;1623519;16244706;16252239;16254002;16832578;16838329;17489853;17701897;17937437;18540246;18553549;18627050;18804272;18978468;19446021;19701182;20301612;20538026;21813924;22420014;22751105;24009312;3582365 6023 AA593275;ABBA01064988;AF334829;AL357874;AMYH02019463;DW422801;DW423815;M29916;NG_017041;NG_033120;NR_003051 Hs.587502 CHH;NME1;RMRPR;RRP2 APPROVED ncrna ENSG00000269900;ENSG00000277027 HGNC:10031 157660;250250;250460;607095 REVIEWED 1342614 RN5S1@ RNA, 5S cluster 1 4437633 6025 HGNC:10034 180420 6481486 RN7SKP1 RNA, 7SK small nuclear pseudogene 1 100873845 AL356274;NG_032625 pseudo HGNC:42619 INFERRED 1353780 RN5S3@ RNA, 5S cluster 3 7736795 6027 HGNC:10036 1345130 RN7SK RNA, 7SK small nuclear INTERACTS WITH 2-methylcholine; hydrogen peroxide 6 6 6 p12.2 54522192 54522523 + 52860418 52860749 + 52995620 52995951 + 6480464 11713532;11713533;12832472;14580347;14627702;15169877;15201869;15713661;15994294;16109377;16362050;1646389;1721058;17381310;17611602;17643375;18483222;18483487;19246988;20201073;20471949;20816986;20976203;21087998;21282977;21360054;21957495;22952229;2443710;24515107;6548262;8139910;954090 125050 ABBA01050546;AL162581;AMYH02013740;NR_001445;X04236;X05490 7SK rna, 7sk, nuclear snrna ENSG00000202198 HGNC:10037 606515 PROVISIONAL 6481489 RN7SKP2 RNA, 7SK small nuclear pseudogene 2 13 13 40981259 40981577 - 40407122 40407440 - 100873846 ABBA01021297;AL391724;AMYH02027905;NG_032626 pseudo HGNC:42620 INFERRED 6481518 RN7SKP10 RNA, 7SK small nuclear pseudogene 10 13 13 110567443 110567767 + 109915096 109915420 + 100873873 ABBA01027002;AL354947;AMYH02028706;NG_032646 pseudo HGNC:42628 INFERRED 6481487 RN7SKP3 RNA, 7SK small nuclear pseudogene 3 13 13 45634864 45635221 + 45060729 45061086 + 100873847 ABBA01021224;AL138693;AMYH02027965;NG_032627 pseudo HGNC:42621 INFERRED 6481492 RN7SKP4 RNA, 7SK small nuclear pseudogene 4 100873848 AL138693;NG_032628 pseudo HGNC:42622 INFERRED 6481491 RN7SKP5 RNA, 7SK small nuclear pseudogene 5 13 13 46824077 46824348 + 46249942 46250213 + 100873849 ABBA01050984;AL137141;AMYH02027985;NG_032629 pseudo HGNC:42623 INFERRED 6481497 RN7SKP6 RNA, 7SK small nuclear pseudogene 6 13 13 57459418 57459736 - 56885284 56885602 - 100873850 ABBA01037021;AL355576;AMYH02028092;NG_032630 pseudo HGNC:42624 INFERRED 1353418 RN5S2@ RNA, 5S cluster 2 7956368 6026 HGNC:10035 6481494 RN7SKP7 RNA, 7SK small nuclear pseudogene 7 100873851 AL353581;NG_032631 pseudo HGNC:42625 INFERRED 6481495 RN7SKP8 RNA, 7SK small nuclear pseudogene 8 100873852 AL136300;NG_032632 pseudo HGNC:42626 INFERRED 1343539 RN7SL3 RNA, 7SL, cytoplasmic 3 The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL3, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008] 14 14 14 q21.3 30187481 30187779 - 50320334 50320632 - 49853616 49853914 - 15667936;6084597 378707 ABBA01018120;AL627171;AMYH02029158;NG_011406;X04251 7L30.2;RN7SL631P;RNSRP3 APPROVED pseudo HGNC:23135 612180 INFERRED 6481493 RN7SKP9 RNA, 7SK small nuclear pseudogene 9 13 13 99857962 99858260 + 99205708 99206006 + 100873853 ABBA01027127;AL160155;AMYH02028588;NG_032633 pseudo HGNC:42627 INFERRED 1351215 RN7SL1 RNA, 7SL, cytoplasmic 1 The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL1, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008] 14 14 14 q21.3 29913125 29913423 + 50053298 50053596 + 49586580 49586878 + 12086622;12244299;15667936;17881443;18067920;23221635;6084597 6029 ABBA01018109;AL139099;AMYH02029146;NR_002715;X04248 1770083;5022651 D11S2921;D14S1235 7L1a;7SL;RN7SL;RNSRP1 APPROVED ncrna ENSG00000258486;ENSG00000276168 HGNC:10038 612177 PROVISIONAL 1605284 RLTPR RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing INVOLVED IN cell migration (inferred); establishment of protein localization (inferred); homeostasis of number of cells (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 16 16 16 q22.1 52187520 52199962 + 67679030 67691472 + 67645090 67657569 + 6480464;8554872 12477932;15588584;19846667;19946888;22990118;23022380;24816145 146206 Q6F5E8;R4GMZ7;R4GNC4 AB113647;ABBA01025449;ABBA01025450;ABBA01025451;AC009095;AC010530;AK090421;AL832446;AMYH02032238;AMYH02032239;BC043154;FJ026014;NM_001013838;XM_005255807;XM_006721138;XM_006721139;XM_006721140;XM_006721141;XM_006721142;XR_429713 AAH43154;AAI72249;ACI49710;BAC03402;BAD26751;NP_001013860;Q6F5E8;XP_005255864;XP_006721201;XP_006721202;XP_006721203;XP_006721204;XP_006721205 Hs.611432 1649461;1657321;1682738;1684624;1728945;2125221;2170058;2217210 CTCF_3772;Ctcf;RH64901;RH68791;RH78775;RH80821;SHGC-61086;WI-21064 CARMIL2;CARMIL2b;LRRC16C RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein;RGD, leucine-rich repeat, tropomodulin and proline-rich-containing protein;leucine rich repeat containing 16C;leucine-rich repeat-containing protein 16C protein-coding ENSG00000159753 HGNC:27089 18556 610859 PROVISIONAL 1346682 RN7SL4P RNA, 7SL, cytoplasmic 4, pseudogene 3 3 p25.1 15718223 15718536 + 15779959 15780272 + 6084597 6030 AC090950;NG_002425;X04250 7L28;RN7SL427P;RN7SLP1 APPROVED pseudo HGNC:10039 INFERRED 1344110 RN7SL6P RNA, 7SL, cytoplasmic 6, pseudogene 22 22 q11.22 7289449 7289793 - 23474891 23475235 - 6084597 6032 AC000029;NG_002427;X04253 7L7;RN7SL848P;RN7SLP3 APPROVED pseudo HGNC:10041 INFERRED 1343363 RN7SL5P RNA, 7SL, cytoplasmic 5, pseudogene 9 9 9 p23 9376410 9376722 + 9441998 9442310 + 9441998 9442310 + 6084597 6031 ABBA01065356;AL353733;AMYH02019143;NG_002426;NG_033963;X04252 7LEM1;RN7SL249P;RN7SLP2 APPROVED pseudo HGNC:10040 INFERRED 1349865 RN7SL7P RNA, 7SL, cytoplasmic 7, pseudogene 7 7 7 q21.2 87304779 87305163 - 92600256 92600640 - 92970942 92971326 - 6084597 6033 ABBA01045794;AC002454;AMYH02016275;CH236949;NG_002428;X04254 7L23;RN7SL27P;RN7SLP4 APPROVED pseudo HGNC:10042 INFERRED 2794510 RNA18SP2 RNA, 18S ribosomal pseudogene 2 Y Y Y p11.2 3372688 3374535 + 10034866 10036713 + 10197257 10199104 + 12815422;9847074 359724 ABBA01031176;AC010970;NG_002801 1790951;2188273;2188281;2188283;2188287 G66310;G66314;G66315;G66318;sY1280 RN18S2P APPROVED pseudo HGNC:37658 INFERRED 2881181 RNA18S5 RNA, 18S ribosomal 5 The sequences coding for ribosomal RNAs are present as rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. A 45S rRNA which serves as the precursor for the 18S, 5.8S and 28S rRNA, is transcribed from each rDNA unit by RNA polymerase I. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. These ribosomal repeating units are not currently annotated on the reference genome. This gene represents the portion of one rDNA repeat which encodes an 18S rRNA.[provided by RefSeq, Mar 2009] 22 22 p12 109078 110946 + 109078 110946 + 6480464 15851029;20056613;21907836;22457825;3689320;8972871 100008588 AL592188;NR_003286;U13369 1711454;1791352;1791750;1791866;1792330;1792534;1793006;1793026;5019377 G47279;PMC106412P1;PMC123151P1;PMC128323P1;PMC133845P3;PMC140912P1;PMC153210P1;PMC18377P1;PMC18810P1 RN18S1 APPROVED rrna HGNC:37657 VALIDATED 2881182 RNA28S5 RNA, 28S ribosomal 5 The sequences coding for ribosomal RNAs are present as rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. A 45S rRNA which serves as the precursor for the 18S, 5.8S and 28S rRNA, is transcribed from each rDNA unit by RNA polymerase I. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. These ribosomal repeating units are not currently annotated on the reference genome. This gene represents the portion of one rDNA repeat which encodes a 28S rRNA.[provided by RefSeq, Mar 2009] 8 22 22 p12 66599821 66600192 - 113348 118417 + 113348 118417 + 6480464 11181995;15851029;17803354;20056613;21907836;22457825;3689320;8972871 100008589 AL592188;NR_003287;U13369 1788462;1788944;1792776;1794656;5014342;5023547;5024784 PMC164283P1;PMC343947P1;PMC84149P1;UniSTS:225108;fe50c07.y1;fk89b04.x1;fk94b09.x1 RN28S1 APPROVED rrna HGNC:37659 VALIDATED 2793635 RNA5-8S5 RNA, 5.8S ribosomal 5 The sequences coding for ribosomal RNAs are present as rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. A 45S rRNA which serves as the precursor for the 18S, 5.8S and 28S rRNA, is transcribed from each rDNA unit by RNA polymerase I. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. These ribosomal repeating units are not currently annotated on the reference genome. This gene represents the portion of one rDNA repeat which encodes a 5.8S rRNA.[provided by RefSeq, Mar 2009] 22 22 p12 112025 112180 + 112025 112180 + 3689320;8972871 100008587 AL592188;NR_003285;U13369 1711454;1791866;5492172 G47279;ITS;PMC128323P1 RN5-8S1 APPROVED rrna HGNC:37660 VALIDATED 6892833 RNA45S5 RNA, 45S pre-ribosomal 5 The sequences coding for ribosomal RNAs are present as rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. A 45S rRNA which serves as the precursor for the 18S, 5.8S and 28S rRNA, is transcribed from each rDNA unit by RNA polymerase I. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. These ribosomal repeating units are not currently annotated on the reference genome. This gene represents the 45S pre-rRNA transcript. [provided by RefSeq, Feb 2012] 3689320 100861532 ABBA01053431;AL592188;NR_046235 RN45S rrna HGNC:44273 VALIDATED 6482019 RNA5-8SP3 RNA, 5.8S ribosomal pseudogene 3 9 9 111754689 111754849 - 108992409 108992569 - 100873334 ABBA01042776;AL354797;AMYH02021430;NG_033470 RN5-8S3 APPROVED pseudo HGNC:41957 INFERRED 6482023 RNA5-8SP5 RNA, 5.8S ribosomal pseudogene 5 2 2 133010727 133010878 - 132253154 132253305 - 100873335 ABBA01028222;AC097532;AMYH02004814;NG_033472 RN5-8S5 APPROVED pseudo HGNC:41959 INFERRED 6482022 RNA5-8SP6 RNA, 5.8S ribosomal pseudogene 6 Y Y 10037764 10037915 + 10200155 10200306 + 100873336 ABBA01031177;AC010970;NG_033474 RN5-8S6 APPROVED pseudo HGNC:41960 INFERRED 1346835 RN7SL2 RNA, 7SL, cytoplasmic 2 The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL2, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008] 14 14 14 q21.3 30196415 30196713 - 50329269 50329567 - 49862551 49862849 - 16381838;19838050;6084597 378706 ABBA01018120;AL627171;AMYH02029158;HG323709;NR_027260;X02067;X04249 5022651 D11S2921 7L1C;7L30.1;7SL1c;RNSRP2 APPROVED ncrna ENSG00000274012 HGNC:23134 612179 PROVISIONAL 2303879 RNA5S1 RNA, 5S ribosomal 1 1 1 1 q42 202049252 202049372 - 228746013 228746133 - 228610266 228610386 - 100169751 AL713899;AMYH02002854;NR_023363 RN5S1 APPROVED rrna ENSG00000199352 HGNC:34362 PROVISIONAL 2303870 RNA5S10 RNA, 5S ribosomal 10 1 1 1 q42 202049252 202049372 - 228766135 228766255 - 228630388 228630508 - 100169761 AL713899;AMYH02002856;NR_023372 RN5S10 APPROVED rrna ENSG00000199910 HGNC:34371 PROVISIONAL 2303869 RNA5S11 RNA, 5S ribosomal 11 1 1 1 q42 202049252 202049372 - 228768376 228768496 - 228632629 228632749 - 100169762 AL713899;NR_023373 RN5S11 APPROVED rrna ENSG00000199334 HGNC:34372 PROVISIONAL 2303868 RNA5S12 RNA, 5S ribosomal 12 1 1 1 q42 202049252 202049372 - 228770616 228770736 - 228634869 228634989 - 100169763 AL713899;NR_023374 RN5S12 APPROVED rrna ENSG00000199270 HGNC:34373 PROVISIONAL 1351039 RN7SL8P RNA, 7SL, cytoplasmic 8, pseudogene 7 7 7 q22.3 99358010 99358282 + 104552320 104552592 + 104911873 104912145 + 6084597 6034 ABBA01057964;AC007384;AMYH02016465;CH236947;NG_002429;X04255 7L63;RN7SL433P;RN7SLP5 APPROVED pseudo HGNC:10043 INFERRED 2303867 RNA5S13 RNA, 5S ribosomal 13 1 1 1 q42 202049252 202049372 - 228772841 228772961 - 228637094 228637214 - 100169764 AL713899;NR_023375 RN5S13 APPROVED rrna ENSG00000202526 HGNC:34374 PROVISIONAL 2303866 RNA5S14 RNA, 5S ribosomal 14 1 1 1 q42 202049252 202049372 - 228775082 228775202 - 228639335 228639455 - 100169765 ABBA01013454;AL713899;NR_023376 RN5S14 APPROVED rrna ENSG00000201355 HGNC:34375 PROVISIONAL 2303865 RNA5S15 RNA, 5S ribosomal 15 1 1 1 q42 202049252 202049372 - 228777313 228777433 - 228641566 228641686 - 100169766 ABBA01013454;AL713899;NR_023377 RN5S15 APPROVED rrna ENSG00000201925 HGNC:34376 PROVISIONAL 2303864 RNA5S16 RNA, 5S ribosomal 16 1 1 1 q42 202049252 202049372 - 228779554 228779674 - 228643807 228643927 - 100169767 ABBA01013454;AL713899;AMYH02002860;NR_023378 RN5S16 APPROVED rrna ENSG00000202257 HGNC:34377 PROVISIONAL 2303878 RNA5S2 RNA, 5S ribosomal 2 1 1 1 q42 202049252 202049372 - 228748254 228748374 - 228612507 228612627 - 100169753 AL713899;AMYH02002847;NR_023364 RN5S2 APPROVED rrna ENSG00000201588 HGNC:34363 PROVISIONAL 2303863 RNA5S17 RNA, 5S ribosomal 17 1 1 1 q42 202049252 202049372 - 228781785 228781905 - 228646038 228646158 - 100169768 ABBA01013454;AL713899;AMYH02002860;NR_023379 RN5S17 APPROVED rrna ENSG00000200370 HGNC:34378 PROVISIONAL 2303877 RNA5S3 RNA, 5S ribosomal 3 1 1 1 q42 202049252 202049372 - 228750495 228750615 - 228614748 228614868 - 100169754 ABBA01005839;AL713899;AMYH02002855;NR_023365 RN5S3 APPROVED rrna ENSG00000199337 HGNC:34364 PROVISIONAL 2303876 RNA5S4 RNA, 5S ribosomal 4 1 1 1 q42 202049252 202049372 - 228752736 228752856 - 228616989 228617109 - 100169755 ABBA01005839;AL713899;NR_023366 RN5S4 APPROVED rrna ENSG00000200381 HGNC:34365 PROVISIONAL 2303875 RNA5S5 RNA, 5S ribosomal 5 1 1 1 q42 202049252 202049372 - 228754977 228755097 - 228619230 228619350 - 100169756 AL713899;NR_023367 RN5S5 APPROVED rrna ENSG00000199396 HGNC:34366 PROVISIONAL 2303874 RNA5S6 RNA, 5S ribosomal 6 1 1 1 q42 202049252 202049372 - 228757192 228757312 - 228621445 228621565 - 100169757 AL713899;NR_023368 RN5S6 APPROVED rrna ENSG00000200624 HGNC:34367 PROVISIONAL 2303873 RNA5S7 RNA, 5S ribosomal 7 1 1 1 q42 202049252 202049372 - 228759412 228759532 - 228623665 228623785 - 100169758 AL713899;NR_023369 RN5S7 APPROVED rrna ENSG00000202521 HGNC:34368 PROVISIONAL 2303872 RNA5S8 RNA, 5S ribosomal 8 1 1 1 q42 202049252 202049372 - 228761654 228761774 - 228625907 228626027 - 100169759 AL713899;NR_023370 RN5S8 APPROVED rrna ENSG00000200343 HGNC:34369 PROVISIONAL 2303871 RNA5S9 RNA, 5S ribosomal 9 5 1 1 q42 112103295 112103337 + 228763893 228764013 - 228628146 228628266 - 100169760 AL713899;NR_023371 RN5S9 APPROVED rrna ENSG00000201321 HGNC:34370 PROVISIONAL 6481813 RNA5-8SP7 RNA, 5.8S ribosomal pseudogene 7 20 20 5326652 5326806 - 5346006 5346160 - 100873573 ABBA01053879;AL121757;AMYH02036640;NG_033438 RN5-8S7 APPROVED pseudo HGNC:41962 INFERRED 6481815 RNA5-8SP2 RNA, 5.8S ribosomal pseudogene 2 16 16 33965426 33965577 + 34162959 34163110 + 100873571 ABBA01017803;AC136932;AMYH02031946;NG_033434 RN5-8S2 APPROVED pseudo HGNC:41956 INFERRED 6481814 RNA5-8SP4 RNA, 5.8S ribosomal pseudogene 4 19 19 24187160 24187309 - 24004358 24004507 - 100873572 ABBA01051448;AC092279;AMYH02035850;NG_033436 RN5-8S4 APPROVED pseudo HGNC:41958 INFERRED 6481946 RNA5SP105 RNA, 5S ribosomal pseudogene 105 2 2 138269668 138269780 - 137512098 137512210 - 100873376 ABBA01028139;AC017082;AMYH02004871;NG_033534 RN5S105 APPROVED pseudo HGNC:42903 INFERRED 6481941 RNA5SP103 RNA, 5S ribosomal pseudogene 103 2 2 129202655 129202772 - 128445081 128445198 - 100873374 ABBA01040167;AC020591;AMYH02004749;NG_033530 RN5S103 APPROVED pseudo HGNC:42901 INFERRED 6481942 RNA5SP107 RNA, 5S ribosomal pseudogene 107 100873377 AC010730;NG_033536 RN5S107 APPROVED pseudo HGNC:42905 INFERRED 6481936 RNA5SP102 RNA, 5S ribosomal pseudogene 102 2 2 125690492 125690597 + 124932915 124933020 + 100873373 ABBA01032283;AC019105;AMYH02004714;NG_033528 RN5S102 APPROVED pseudo HGNC:42900 INFERRED 6481938 RNA5SP101 RNA, 5S ribosomal pseudogene 101 2 2 97622445 97622552 - 96956708 96956815 - 100873372 ABBA01036567;AC079395;AMYH02004338;NG_033526 RN5S101 APPROVED pseudo HGNC:42899 INFERRED 6481943 RNA5SP108 RNA, 5S ribosomal pseudogene 108 2 2 162266065 162266181 + 161409554 161409670 + 100873378 ABBA01004886;AC009487;AMYH02005089;NG_033538 RN5S108 APPROVED pseudo HGNC:42906 INFERRED 6481948 RNA5SP109 RNA, 5S ribosomal pseudogene 109 2 2 163353446 163353561 + 162496936 162497051 + 100873379 ABBA01004895;AC007740;AMYH02005095;NG_033540 RN5S109 APPROVED pseudo HGNC:42907 INFERRED 6481947 RNA5SP104 RNA, 5S ribosomal pseudogene 104 100873375 AC016906;NG_033532 RN5S104 APPROVED pseudo HGNC:42902 INFERRED 6481949 RNA5SP114 RNA, 5S ribosomal pseudogene 114 2 2 189141459 189141571 - 188276732 188276844 - 100873384 ABBA01062363;AC104131;AMYH02005418;NG_033550 RN5S114 APPROVED pseudo HGNC:42912 INFERRED 6481945 RNA5SP110 RNA, 5S ribosomal pseudogene 110 2 2 165714942 165715056 + 164858432 164858546 + 100873380 ABBA01004912;AC019181;AMYH02005125;NG_033542 RN5S110 APPROVED pseudo HGNC:42908 INFERRED 6481950 RNA5SP115 RNA, 5S ribosomal pseudogene 115 2 2 201713761 201713867 - 200849038 200849144 - 100873385 ABBA01062522;AC005037;AMYH02005542;NG_033552 RN5S115 APPROVED pseudo HGNC:42913 INFERRED 6481944 RNA5SP111 RNA, 5S ribosomal pseudogene 111 2 2 165752187 165752287 - 164895677 164895777 - 100873381 ABBA01004912;AC019197;AMYH02005125;NG_033544 RN5S111 APPROVED pseudo HGNC:42909 INFERRED 6481959 RNA5SP120 RNA, 5S ribosomal pseudogene 120 2 2 217658212 217658323 - 216793489 216793600 - 100873390 ABBA01062825;AC007563;AMYH02005767;NG_033562 RN5S120 APPROVED pseudo HGNC:42918 INFERRED 6481951 RNA5SP118 RNA, 5S ribosomal pseudogene 118 2 2 210586637 210586745 - 209721913 209722021 - 100873388 ABBA01062729;AC006385;AMYH02005675;NG_033558 RN5S118 APPROVED pseudo HGNC:42916 INFERRED 6481954 RNA5SP112 RNA, 5S ribosomal pseudogene 112 2 2 178003427 178003525 + 177138699 177138797 + 100873382 ABBA01062228;AC079305;AMYH02005309;NG_033546 RN5S112 APPROVED pseudo HGNC:42910 INFERRED 6481952 RNA5SP113 RNA, 5S ribosomal pseudogene 113 2 2 182913549 182913632 + 182048822 182048905 + 100873383 ABBA01062291;AC064837;AMYH02005363;NG_033548 RN5S113 APPROVED pseudo HGNC:42911 INFERRED 6481958 RNA5SP121 RNA, 5S ribosomal pseudogene 121 2 2 228627768 228627868 - 227763052 227763152 - 100873391 ABBA01050174;AC093762;AMYH02005926;NG_033564 RN5S121 APPROVED pseudo HGNC:42919 INFERRED 6481956 RNA5SP116 RNA, 5S ribosomal pseudogene 116 2 2 208918885 208918982 - 208054161 208054258 - 100873386 ABBA01062697;AC093698;AMYH02005656;NG_033554 RN5S116 APPROVED pseudo HGNC:42914 INFERRED 6481953 RNA5SP117 RNA, 5S ribosomal pseudogene 117 2 2 209785271 209785388 - 208920547 208920664 - 100873387 ABBA01062715;AC069205;AMYH02005668;NG_033556 RN5S117 APPROVED pseudo HGNC:42915 INFERRED 6481955 RNA5SP119 RNA, 5S ribosomal pseudogene 119 2 2 212400378 212400494 + 211535653 211535769 + 100873389 ABBA01062751;AC068970;AMYH02005691;NG_033560 RN5S119 APPROVED pseudo HGNC:42917 INFERRED 6481963 RNA5SP127 RNA, 5S ribosomal pseudogene 127 100873397 AC115283;NG_033576 RN5S127 APPROVED pseudo HGNC:43027 INFERRED 6481962 RNA5SP123 RNA, 5S ribosomal pseudogene 123 3 3 12552594 12552712 - 12511095 12511213 - 100873393 ABBA01025203;AC018500;AMYH02006293;NG_033568 RN5S123 APPROVED pseudo HGNC:43023 INFERRED 6481957 RNA5SP122 RNA, 5S ribosomal pseudogene 122 2 2 242524383 242524490 + 241584968 241585075 + 100873392 ABBA01006056;AC133528;AMYH02006115;NG_033566 RN5S122 APPROVED pseudo HGNC:42920 INFERRED 6481960 RNA5SP124 RNA, 5S ribosomal pseudogene 124 100873394 AC093496;NG_033570 RN5S124 APPROVED pseudo HGNC:43024 INFERRED 6481961 RNA5SP126 RNA, 5S ribosomal pseudogene 126 3 3 25393775 25393883 - 25352284 25352392 - 100873396 ABBA01025020;AC098477;AMYH02006422;NG_033574 RN5S126 APPROVED pseudo HGNC:43026 INFERRED 6481965 RNA5SP125 RNA, 5S ribosomal pseudogene 125 3 3 25066498 25066617 + 25025007 25025126 + 100873395 ABBA01025024;AC092422;AMYH02006418;NG_033572 RN5S125 APPROVED pseudo HGNC:43025 INFERRED 6481966 RNA5SP129 RNA, 5S ribosomal pseudogene 129 3 3 37383140 37383257 + 37341649 37341766 + 100873399 ABBA01024844;AC097359;AMYH02006559;NG_033580 RN5S129 APPROVED pseudo HGNC:43029 INFERRED 6481964 RNA5SP128 RNA, 5S ribosomal pseudogene 128 100873398 AC093114;NG_033578 RN5S128 APPROVED pseudo HGNC:43028 INFERRED 6481969 RNA5SP135 RNA, 5S ribosomal pseudogene 135 3 3 68932118 68932242 + 68882967 68883091 + 100873403 ABBA01030897;AC104166;AMYH02007012;NG_033588 RN5S135 APPROVED pseudo HGNC:43035 INFERRED 6481968 RNA5SP132 RNA, 5S ribosomal pseudogene 132 3 3 51728481 51728598 - 51694465 51694582 - 100873401 ABBA01024521;AC099050;AMYH02006791;NG_033584 RN5S132 APPROVED pseudo HGNC:43032 INFERRED 6481967 RNA5SP131 RNA, 5S ribosomal pseudogene 131 3 3 50457212 50457330 + 50419781 50419899 + 100873400 ABBA01024547;AMYH02006770;NG_033582;NG_034070;Z75742 RN5S131 APPROVED pseudo HGNC:43031 INFERRED 6481972 RNA5SP133 RNA, 5S ribosomal pseudogene 133 3 3 56219132 56219250 + 56185104 56185222 + 100873402 ABBA01024451;AC099775;AMYH02006847;NG_033586 RN5S133 APPROVED pseudo HGNC:43033 INFERRED 6481979 RNA5SP138 RNA, 5S ribosomal pseudogene 138 3 3 126283408 126283521 - 126564565 126564678 - 100873406 ABBA01016386;AC024558;AMYH02007590;NG_033595 RN5S138 APPROVED pseudo HGNC:43038 INFERRED 6481973 RNA5SP137 RNA, 5S ribosomal pseudogene 137 3 3 124777148 124777282 - 125058304 125058438 - 100873405 ABBA01016430;AC117488;AMYH02007569;NG_033593 RN5S137 APPROVED pseudo HGNC:43037 INFERRED 6481970 RNA5SP136 RNA, 5S ribosomal pseudogene 136 100873404 AC097369;NG_033590 RN5S136 APPROVED pseudo HGNC:43036 INFERRED 6481971 RNA5SP139 RNA, 5S ribosomal pseudogene 139 3 3 127682451 127682567 + 127963608 127963724 + 100873407 ABBA01020886;AC011311;AMYH02007611;NG_033597 RN5S139 APPROVED pseudo HGNC:43039 INFERRED 6481978 RNA5SP141 RNA, 5S ribosomal pseudogene 141 3 134783436 134783555 - 100873408 AC016931;NG_033599 RN5S141 APPROVED pseudo HGNC:43041 INFERRED 6481976 RNA5SP145 RNA, 5S ribosomal pseudogene 145 3 3 150905886 150906010 + 151188099 151188223 + 100873412 ABBA01058913;AC078816;AMYH02007897;NG_033607 RN5S145 APPROVED pseudo HGNC:43045 INFERRED 6481980 RNA5SP146 RNA, 5S ribosomal pseudogene 146 3 3 156891707 156891829 - 157173918 157174040 - 100873413 ABBA01058835;AC104411;AMYH02007980;NG_033609 RN5S146 APPROVED pseudo HGNC:43046 INFERRED 6481977 RNA5SP144 RNA, 5S ribosomal pseudogene 144 3 3 143905747 143905862 - 144186905 144187020 - 100873411 ABBA01059010;AC022495;AMYH02007834;NG_033605 RN5S144 APPROVED pseudo HGNC:43044 INFERRED 6481975 RNA5SP142 RNA, 5S ribosomal pseudogene 142 3 3 137236976 137237097 - 137518134 137518255 - 100873409 ABBA01059102;AC117440;AMYH02007760;NG_033601 RN5S142 APPROVED pseudo HGNC:43042 INFERRED 6481982 RNA5SP147 RNA, 5S ribosomal pseudogene 147 100873414 AC092920;NG_033611 RN5S147 APPROVED pseudo HGNC:43047 INFERRED 6481974 RNA5SP143 RNA, 5S ribosomal pseudogene 143 3 3 142310519 142310633 - 142591677 142591791 - 100873410 ABBA01059023;AC134509;AMYH02007822;NG_033603 RN5S143 APPROVED pseudo HGNC:43043 INFERRED 6481885 RNA5SP156 RNA, 5S ribosomal pseudogene 156 4 4 11415675 11415784 - 11414051 11414160 - 100873422 ABBA01032529;AC006230;AMYH02008762;NG_033627 RN5S156 APPROVED pseudo HGNC:43056 INFERRED 6481882 RNA5SP152 RNA, 5S ribosomal pseudogene 152 4 4 8394742 8394851 + 8393015 8393124 + 100873418 ABBA01008698;AC104825;AMYH02008698;NG_033619 RN5S152 APPROVED pseudo HGNC:43052 INFERRED 6481886 RNA5SP155 RNA, 5S ribosomal pseudogene 155 4 4 10117380 10117508 - 10115756 10115884 - 100873421 ABBA01032514;AC093664;AMYH02008745;NG_033625 RN5S155 APPROVED pseudo HGNC:43055 INFERRED 6481884 RNA5SP153 RNA, 5S ribosomal pseudogene 153 4 4 9412904 9412979 - 9411178 9411253 - 100873419 ABBA01032499;AC116655;AMYH02008736;NG_033621 RN5S153 APPROVED pseudo HGNC:43053 INFERRED 6481887 RNA5SP154 RNA, 5S ribosomal pseudogene 154 4 4 9794375 9794485 - 9792751 9792861 - 100873420 ABBA01032505;AC098976;AMYH02008742;NG_033623 RN5S154 APPROVED pseudo HGNC:43054 INFERRED 6481879 RNA5SP151 RNA, 5S ribosomal pseudogene 151 3 3 182976088 182976204 - 183258300 183258416 - 100873417 ABBA01058481;AC069417;AMYH02008283;NG_033617 RN5S151 APPROVED pseudo HGNC:43051 INFERRED 6481880 RNA5SP148 RNA, 5S ribosomal pseudogene 148 3 3 178146985 178147078 - 178429197 178429290 - 100873415 ABBA01058548;AC024220;AMYH02008211;NG_033613 RN5S148 APPROVED pseudo HGNC:43048 INFERRED 6481881 RNA5SP150 RNA, 5S ribosomal pseudogene 150 100873416 AC007547;NG_033615 RN5S150 APPROVED pseudo HGNC:43050 INFERRED 6481891 RNA5SP157 RNA, 5S ribosomal pseudogene 157 100873423 AC097457;NG_033629 RN5S157 APPROVED pseudo HGNC:43057 INFERRED 6481890 RNA5SP160 RNA, 5S ribosomal pseudogene 160 4 4 40992171 40992290 + 40990154 40990273 + 100873426 ABBA01014258;AC093804;AMYH02009089;NG_033635 RN5S160 APPROVED pseudo HGNC:43060 INFERRED 6481893 RNA5SP163 RNA, 5S ribosomal pseudogene 163 100873428 AC024722;NG_033639 RN5S163 APPROVED pseudo HGNC:43063 INFERRED 6481889 RNA5SP159 RNA, 5S ribosomal pseudogene 159 4 4 39938373 39938475 + 39936753 39936855 + 100873425 ABBA01004148;AC113150;AMYH02009064;NG_033633 RN5S159 APPROVED pseudo HGNC:43059 INFERRED 6481888 RNA5SP158 RNA, 5S ribosomal pseudogene 158 4 4 38760412 38760513 - 38758791 38758892 - 100873424 ABBA01004114;AC118137;AMYH02009040;NG_033631 RN5S158 APPROVED pseudo HGNC:43058 INFERRED 6481892 RNA5SP162 RNA, 5S ribosomal pseudogene 162 100873427 AC068620;NG_033637 RN5S162 APPROVED pseudo HGNC:43062 INFERRED 6481894 RNA5SP164 RNA, 5S ribosomal pseudogene 164 4 4 94741322 94741431 + 93820171 93820280 + 100873429 ABBA01063610;AC087413;AMYH02009752;NG_033641 RN5S164 APPROVED pseudo HGNC:43064 INFERRED 6481895 RNA5SP165 RNA, 5S ribosomal pseudogene 165 4 4 148666454 148666568 - 147745303 147745417 - 100873430 ABBA01070059;AC093835;AMYH02010276;NG_033643 RN5S165 APPROVED pseudo HGNC:43065 INFERRED 6481896 RNA5SP166 RNA, 5S ribosomal pseudogene 166 4 4 149479099 149479200 + 148557947 148558048 + 100873431 ABBA01070065;AC093881;AMYH02010285;NG_033645 RN5S166 APPROVED pseudo HGNC:43066 INFERRED 6481897 RNA5SP167 RNA, 5S ribosomal pseudogene 167 100873432 AC096756;NG_033647 RN5S167 APPROVED pseudo HGNC:43067 INFERRED 6481902 RNA5SP171 RNA, 5S ribosomal pseudogene 171 4 4 167839515 167839629 - 166918364 166918478 - 100873436 ABBA01070316;AC107210;AMYH02010461;NG_033655 RN5S171 APPROVED pseudo HGNC:43071 INFERRED 6481898 RNA5SP169 RNA, 5S ribosomal pseudogene 169 4 4 152892649 152892765 - 151971497 151971613 - 100873434 ABBA01070120;AC097375;AMYH02010306;NG_033651 RN5S169 APPROVED pseudo HGNC:43069 INFERRED 6481903 RNA5SP168 RNA, 5S ribosomal pseudogene 168 4 4 151891823 151891934 - 150970671 150970782 - 100873433 ABBA01070096;AC104796;AMYH02010300;NG_033649 RN5S168 APPROVED pseudo HGNC:43068 INFERRED 6481899 RNA5SP170 RNA, 5S ribosomal pseudogene 170 4 4 166974339 166974439 - 166053187 166053287 - 100873435 ABBA01070300;AC097507;AMYH02010445;NG_033653 RN5S170 APPROVED pseudo HGNC:43070 INFERRED 6481900 RNA5SP173 RNA, 5S ribosomal pseudogene 173 4 4 179327849 179327984 + 178406695 178406830 + 100873437 ABBA01070440;AC108205;AMYH02010573;NG_033657 RN5S173 APPROVED pseudo HGNC:43073 INFERRED 6481901 RNA5SP176 RNA, 5S ribosomal pseudogene 176 5 5 7047340 7047449 + 7047227 7047336 + 100873438 ABBA01016151;AC108100;AMYH02010813;NG_033659 RN5S176 APPROVED pseudo HGNC:43076 INFERRED 6481905 RNA5SP178 RNA, 5S ribosomal pseudogene 178 5 5 16033338 16033465 - 16033229 16033356 - 100873440 ABBA01020654;AC026807;AMYH02010917;NG_033663 RN5S178 APPROVED pseudo HGNC:43078 INFERRED 6481907 RNA5SP180 RNA, 5S ribosomal pseudogene 180 5 5 17157080 17157180 - 17156971 17157071 - 100873442 ABBA01020689;AC026790;AMYH02010941;NG_033667 RN5S180 APPROVED pseudo HGNC:43080 INFERRED 6481910 RNA5SP179 RNA, 5S ribosomal pseudogene 179 5 5 16854103 16854223 + 16853994 16854114 + 100873441 ABBA01020671;AC010310;AMYH02010925;NG_033665 RN5S179 APPROVED pseudo HGNC:43079 INFERRED 6481904 RNA5SP177 RNA, 5S ribosomal pseudogene 177 100873439 AC091838;NG_033661 RN5S177 APPROVED pseudo HGNC:43077 INFERRED 6481908 RNA5SP181 RNA, 5S ribosomal pseudogene 181 5 5 36485445 36485542 + 36485343 36485440 + 100873443 ABBA01024170;AC026724;AMYH02011164;NG_033669 RN5S181 APPROVED pseudo HGNC:43081 INFERRED 6482070 RNA5SP18 RNA, 5S ribosomal pseudogene 18 1 1 228783659 228783779 - 228647912 228648032 - 100873273 ABBA01013454;AL713899;AMYH02002860;NG_033349 RN5S18 APPROVED pseudo HGNC:42586 INFERRED 6481906 RNA5SP182 RNA, 5S ribosomal pseudogene 182 100873444 AC091903;NG_033671 RN5S182 APPROVED pseudo HGNC:43082 INFERRED 6481909 RNA5SP183 RNA, 5S ribosomal pseudogene 183 100873445 AC016632;NG_033673 RN5S183 APPROVED pseudo HGNC:43083 INFERRED 6481912 RNA5SP184 RNA, 5S ribosomal pseudogene 184 5 5 55442566 55442673 - 56146739 56146846 - 100873446 ABBA01015761;AC016638;AMYH02011327;NG_033675 RN5S184 APPROVED pseudo HGNC:43084 INFERRED 6481915 RNA5SP186 RNA, 5S ribosomal pseudogene 186 5 5 75387533 75387626 - 76091708 76091801 - 100873448 ABBA01061951;AC026774;AMYH02011597;NG_033679 RN5S186 APPROVED pseudo HGNC:43086 INFERRED 6481922 RNA5SP189 RNA, 5S ribosomal pseudogene 189 5 5 105258695 105258809 - 105922994 105923108 - 100873451 ABBA01069123;AC106777;AMYH02011916;NG_033685 RN5S189 APPROVED pseudo HGNC:43089 INFERRED 6481916 RNA5SP185 RNA, 5S ribosomal pseudogene 185 100873447 AC016638;NG_033677 RN5S185 APPROVED pseudo HGNC:43085 INFERRED 6482075 RNA5SP19 RNA, 5S ribosomal pseudogene 19 1 1 228743494 228743602 + 228555793 228555901 + 100873274 ABBA01005839;AL139288;AMYH02002847;NG_033351 RN5S19 APPROVED pseudo HGNC:42587 INFERRED 6481911 RNA5SP187 RNA, 5S ribosomal pseudogene 187 100873449 AC016555;NG_033681 RN5S187 APPROVED pseudo HGNC:43087 INFERRED 6481913 RNA5SP188 RNA, 5S ribosomal pseudogene 188 5 5 101466822 101466839 - 102131118 102131135 - 100873450 ABBA01069153;AC008948;AC126916;AMYH02011867;NG_033683 RN5S188 APPROVED pseudo HGNC:43088 INFERRED 6481917 RNA5SP191 RNA, 5S ribosomal pseudogene 191 5 5 129450102 129450203 + 130114409 130114510 + 100873453 ABBA01068845;AC005373;AMYH02012186;NG_033689 RN5S191 APPROVED pseudo HGNC:43091 INFERRED 6481914 RNA5SP190 RNA, 5S ribosomal pseudogene 190 5 5 118781411 118781528 + 119445716 119445833 + 100873452 ABBA01068976;AC024564;AMYH02012057;NG_033687 RN5S190 APPROVED pseudo HGNC:43090 INFERRED 6481920 RNA5SP193 RNA, 5S ribosomal pseudogene 193 100873455 AC005213;NG_033693 RN5S193 APPROVED pseudo HGNC:43093 INFERRED 6481921 RNA5SP192 RNA, 5S ribosomal pseudogene 192 5 5 132184269 132184388 + 132848577 132848696 + 100873454 ABBA01068795;AC004500;AMYH02012220;NG_033691 RN5S192 APPROVED pseudo HGNC:43092 INFERRED 6481918 RNA5SP194 RNA, 5S ribosomal pseudogene 194 100873456 AC011405;NG_033695 RN5S194 APPROVED pseudo HGNC:43094 INFERRED 6481819 RNA5SP195 RNA, 5S ribosomal pseudogene 195 5 5 138635541 138635657 + 139299852 139299968 + 100873457 ABBA01068643;AC011404;AMYH02012315;NG_033697 RN5S195 APPROVED pseudo HGNC:43095 INFERRED 6481818 RNA5SP196 RNA, 5S ribosomal pseudogene 196 5 5 145965662 145965763 - 146586099 146586200 - 100873458 ABBA01026336;AC008728;AMYH02012413;NG_033699 RN5S196 APPROVED pseudo HGNC:43096 INFERRED 6481821 RNA5SP197 RNA, 5S ribosomal pseudogene 197 5 5 150857020 150857138 - 151477459 151477577 - 100873459 ABBA01026262;AC034205;AMYH02012471;NG_033701 RN5S197 APPROVED pseudo HGNC:43097 INFERRED 6481822 RNA5SP198 RNA, 5S ribosomal pseudogene 198 5 5 151255127 151255253 - 151875566 151875692 - 100873460 ABBA01026258;AC091982;AMYH02012476;NG_033703 RN5S198 APPROVED pseudo HGNC:43098 INFERRED 6481824 RNA5SP200 RNA, 5S ribosomal pseudogene 200 100873461 AC106731;NG_033705 RN5S200 APPROVED pseudo HGNC:43100 INFERRED 6481825 RNA5SP201 RNA, 5S ribosomal pseudogene 201 100873462 AL031963;NG_033707 RN5S201 APPROVED pseudo HGNC:43101 INFERRED 6481826 RNA5SP202 RNA, 5S ribosomal pseudogene 202 100873463 AL162718;NG_033709 RN5S202 APPROVED pseudo HGNC:43102 INFERRED 6482074 RNA5SP20 RNA, 5S ribosomal pseudogene 20 1 1 78080554 78080637 + 77614869 77614952 + 100873275 ABBA01074399;AC118549;AMYH02001302;NG_033353 RN5S20 APPROVED pseudo HGNC:42588 INFERRED 6481827 RNA5SP203 RNA, 5S ribosomal pseudogene 203 6 6 10753024 10753159 - 10752791 10752926 - 100873464 ABBA01022085;AL024498;AMYH02013098;NG_033711 RN5S203 APPROVED pseudo HGNC:43103 INFERRED 6481830 RNA5SP204 RNA, 5S ribosomal pseudogene 204 6 6 17722017 17722134 - 17721786 17721903 - 100873465 ABBA01022225;AL138724;AMYH02013205;NG_033713 RN5S204 APPROVED pseudo HGNC:43104 INFERRED 6481831 RNA5SP205 RNA, 5S ribosomal pseudogene 205 6 6 19438514 19438649 + 19438283 19438418 + 100873466 ABBA01022244;AL512403;AMYH02013238;NG_033715 RN5S205 APPROVED pseudo HGNC:43105 INFERRED 6481829 RNA5SP207 RNA, 5S ribosomal pseudogene 207 6 6 41207258 41207364 - 41239520 41239626 - 100873467 ABBA01050760;AL391903;AMYH02013603;NG_033717 RN5S207 APPROVED pseudo HGNC:43107 INFERRED 6482072 RNA5SP21 RNA, 5S ribosomal pseudogene 21 1 1 78245589 78245684 + 77779904 77779999 + 100873276 ABBA01074393;AC114487;AMYH02001304;NG_033355 RN5S21 APPROVED pseudo HGNC:42589 INFERRED 6481828 RNA5SP208 RNA, 5S ribosomal pseudogene 208 6 6 68177124 68177201 - 67467231 67467308 - 100873468 ABBA01023909;AL365503;AMYH02013851;NG_033719 RN5S208 APPROVED pseudo HGNC:43108 INFERRED 6481835 RNA5SP209 RNA, 5S ribosomal pseudogene 209 100873469 AL136093;NG_033720 RN5S209 APPROVED pseudo HGNC:43109 INFERRED 6481838 RNA5SP211 RNA, 5S ribosomal pseudogene 211 6 6 106897256 106897372 + 106449381 106449497 + 100873471 ABBA01026197;AL109920;AMYH02014240;NG_033724 RN5S211 APPROVED pseudo HGNC:43111 INFERRED 6481832 RNA5SP210 RNA, 5S ribosomal pseudogene 210 100873470 AL359693;NG_033722 RN5S210 APPROVED pseudo HGNC:43110 INFERRED 6481836 RNA5SP212 RNA, 5S ribosomal pseudogene 212 6 6 108573605 108573711 + 108252401 108252507 + 100873472 ABBA01026153;AMYH02014267;NG_033280;Z98742 RN5S212 APPROVED pseudo HGNC:43112 INFERRED 6481834 RNA5SP213 RNA, 5S ribosomal pseudogene 213 6 6 114541845 114541950 - 114220681 114220786 - 100873473 ABBA01026061;AL500524;AMYH02014334;NG_033282 RN5S213 APPROVED pseudo HGNC:43113 INFERRED 6481833 RNA5SP215 RNA, 5S ribosomal pseudogene 215 6 6 121007767 121007888 + 120686621 120686742 + 100873475 ABBA01026008;AL357332;AMYH02014387;NG_033286 RN5S215 APPROVED pseudo HGNC:43115 INFERRED 6481837 RNA5SP214 RNA, 5S ribosomal pseudogene 214 100873474 AL355358;NG_033284 RN5S214 APPROVED pseudo HGNC:43114 INFERRED 6481841 RNA5SP217 RNA, 5S ribosomal pseudogene 217 6 6 127639028 127639118 - 127317883 127317973 - 100873477 ABBA01025935;AL109939;AMYH02014446;NG_033290 RN5S217 APPROVED pseudo HGNC:43117 INFERRED 6481839 RNA5SP216 RNA, 5S ribosomal pseudogene 216 6 6 126300958 126301080 - 125979812 125979934 - 100873476 ABBA01025943;AL035689;AMYH02014437;NG_033288 RN5S216 APPROVED pseudo HGNC:43116 INFERRED 6481846 RNA5SP219 RNA, 5S ribosomal pseudogene 219 100873479 AL024508;NG_033294 RN5S219 APPROVED pseudo HGNC:43119 INFERRED 6482076 RNA5SP22 RNA, 5S ribosomal pseudogene 22 1 1 78560491 78560599 - 78094807 78094915 - 100873277 ABBA01074393;AC093118;AMYH02001309;NG_033357 RN5S22 APPROVED pseudo HGNC:42590 INFERRED 6481848 RNA5SP220 RNA, 5S ribosomal pseudogene 220 6 6 140479728 140479831 - 140158591 140158694 - 100873480 ABBA01025779;AL022477;AMYH02014609;NG_033296 RN5S220 APPROVED pseudo HGNC:43120 INFERRED 6481842 RNA5SP218 RNA, 5S ribosomal pseudogene 218 6 6 134578173 134578281 + 134257035 134257143 + 100873478 ABBA01025857;AL135839;AMYH02014527;NG_033292 RN5S218 APPROVED pseudo HGNC:43118 INFERRED 6481840 RNA5SP222 RNA, 5S ribosomal pseudogene 222 6 6 146661556 146661660 + 146340420 146340524 + 100873481 ABBA01025722;AL035698;AMYH02014654;NG_033298 RN5S222 APPROVED pseudo HGNC:43122 INFERRED 6481843 RNA5SP223 RNA, 5S ribosomal pseudogene 223 6 6 152731410 152731529 + 152410275 152410394 + 100873482 ABBA01025621;AL049548;AMYH02014740;NG_033300 RN5S223 APPROVED pseudo HGNC:43123 INFERRED 6481845 RNA5SP227 RNA, 5S ribosomal pseudogene 227 100873485 AC005079;NG_033305 RN5S227 APPROVED pseudo HGNC:43127 INFERRED 6481849 RNA5SP228 RNA, 5S ribosomal pseudogene 228 7 7 24172324 24172456 + 24132705 24132837 + 100873486 ABBA01056719;AC004485;AMYH02015375;NG_033306 RN5S228 APPROVED pseudo HGNC:43128 INFERRED 6481847 RNA5SP225 RNA, 5S ribosomal pseudogene 225 6 6 153741573 153741707 + 153420438 153420572 + 100873484 ABBA01025606;AL358134;AMYH02014752;NG_033304 RN5S225 APPROVED pseudo HGNC:43125 INFERRED 6481844 RNA5SP224 RNA, 5S ribosomal pseudogene 224 6 6 153480355 153480480 - 153159220 153159345 - 100873483 ABBA01025608;AL356963;AMYH02014750;NG_033302 RN5S224 APPROVED pseudo HGNC:43124 INFERRED 6481851 RNA5SP229 RNA, 5S ribosomal pseudogene 229 7 7 33217352 33217450 + 33177740 33177838 + 100873487 ABBA01056863;AC074338;AMYH02015493;NG_033307 RN5S229 APPROVED pseudo HGNC:43129 INFERRED 6482078 RNA5SP23 RNA, 5S ribosomal pseudogene 23 1 1 78840849 78840953 - 78375164 78375268 - 100873278 ABBA01074391;AL158841;AMYH02001314;NG_033359 RN5S23 APPROVED pseudo HGNC:42591 INFERRED 6481850 RNA5SP230 RNA, 5S ribosomal pseudogene 230 7 7 44165351 44165472 - 44125752 44125873 - 100873488 ABBA01058215;AC006454;AMYH02015616;NG_033308 RN5S230 APPROVED pseudo HGNC:43130 INFERRED 6481854 RNA5SP232 RNA, 5S ribosomal pseudogene 232 100873490 AC004905;NG_033310 RN5S232 APPROVED pseudo HGNC:43132 INFERRED 6481855 RNA5SP234 RNA, 5S ribosomal pseudogene 234 7 7 79283425 79283543 + 79654109 79654227 + 100873492 ABBA01058035;AC073048;AMYH02016135;NG_033312 RN5S234 APPROVED pseudo HGNC:43134 INFERRED 6481852 RNA5SP231 RNA, 5S ribosomal pseudogene 231 7 7 68188898 68189035 - 68723911 68724048 - 100873489 ABBA01064073;AC004910;AMYH02015944;NG_033309 RN5S231 APPROVED pseudo HGNC:43131 INFERRED 6481853 RNA5SP233 RNA, 5S ribosomal pseudogene 233 7 7 73901758 73901870 - 74487428 74487540 - 100873491 ABBA01063892;AC005015;AMYH02016055;NG_033311 RN5S233 APPROVED pseudo HGNC:43133 INFERRED 6481861 RNA5SP237 RNA, 5S ribosomal pseudogene 237 100873495 AC003080;NG_033315 RN5S237 APPROVED pseudo HGNC:43137 INFERRED 6481858 RNA5SP236 RNA, 5S ribosomal pseudogene 236 7 7 106422046 106422161 - 106781600 106781715 - 100873494 ABBA01057922;AC025728;AMYH02016501;NG_033314 RN5S236 APPROVED pseudo HGNC:43136 INFERRED 6481859 RNA5SP238 RNA, 5S ribosomal pseudogene 238 100873496 AC020606;NG_033316 RN5S238 APPROVED pseudo HGNC:43138 INFERRED 6481923 RNA5SP24 RNA, 5S ribosomal pseudogene 24 13 13 19662627 19662721 + 19088487 19088581 + 100873356 ABBA01068548;AC245087;AL137001;NG_033495 RN5S24 APPROVED pseudo HGNC:42600 INFERRED 6481860 RNA5SP239 RNA, 5S ribosomal pseudogene 239 7 7 116584340 116584468 - 116944286 116944414 - 100873497 ABBA01057804;AC106873;AMYH02016634;NG_033317 RN5S239 APPROVED pseudo HGNC:43139 INFERRED 6481862 RNA5SP241 RNA, 5S ribosomal pseudogene 241 7 7 120723754 120723867 - 121083700 121083813 - 100873499 ABBA01057763;AC006976;AMYH02016663;NG_033319 RN5S241 APPROVED pseudo HGNC:43141 INFERRED 6481856 RNA5SP240 RNA, 5S ribosomal pseudogene 240 100873498 AC004537;NG_033318 RN5S240 APPROVED pseudo HGNC:43140 INFERRED 6483493 RNA5SP244 RNA, 5S ribosomal pseudogene 244 7 7 q32 129396106 129396217 + 129756266 129756377 + 100885864 ABBA01057626;AC084864;AMYH02016739;NG_033445 RN5S244 APPROVED pseudo HGNC:43144 INFERRED 6481866 RNA5SP242 RNA, 5S ribosomal pseudogene 242 7 7 128337493 128337610 + 128697439 128697556 + 100873500 ABBA01057657;AC018638;AMYH02016718;NG_033320 RN5S242 APPROVED pseudo HGNC:43142 INFERRED 6481864 RNA5SP245 RNA, 5S ribosomal pseudogene 245 7 7 129667117 129667237 + 130027277 130027397 + 100873501 ABBA01057605;AC073320;AMYH02016748;NG_033321 RN5S245 APPROVED pseudo HGNC:43145 INFERRED 6481868 RNA5SP246 RNA, 5S ribosomal pseudogene 246 7 7 130287672 130287790 - 130602795 130602913 - 100873502 ABBA01057584;AC145656;AC234644;AMYH02016759;NG_033322 RN5S246 APPROVED pseudo HGNC:43146 INFERRED 6481863 RNA5SP247 RNA, 5S ribosomal pseudogene 247 7 7 140070241 140070345 + 140370441 140370545 + 100873503 ABBA01034062;AC093087;AMYH02016902;NG_033323 RN5S247 APPROVED pseudo HGNC:43147 INFERRED 6481867 RNA5SP249 RNA, 5S ribosomal pseudogene 249 7 7 147546976 147547074 + 147849884 147849982 + 100873505 ABBA01033585;AC006992;AMYH02017017;NG_033325 RN5S249 APPROVED pseudo HGNC:43149 INFERRED 6481869 RNA5SP248 RNA, 5S ribosomal pseudogene 248 7 7 140086581 140086707 - 140386781 140386907 - 100873504 ABBA01034063;AC093087;AMYH02016902;NG_033324 RN5S248 APPROVED pseudo HGNC:43148 INFERRED 6481865 RNA5SP250 RNA, 5S ribosomal pseudogene 250 100873506 AC104843;NG_033326 RN5S250 APPROVED pseudo HGNC:43150 INFERRED 6481924 RNA5SP25 RNA, 5S ribosomal pseudogene 25 13 13 21943929 21944038 - 21369790 21369899 - 100873357 ABBA01068604;AL136219;AMYH02027659;NG_033497 RN5S25 APPROVED pseudo HGNC:42601 INFERRED 6481870 RNA5SP251 RNA, 5S ribosomal pseudogene 251 8 8 3558014 3558150 + 3700492 3700628 + 100873507 ABBA01007084;AC022910;AMYH02017253;NG_033327 RN5S251 APPROVED pseudo HGNC:43151 INFERRED 6481873 RNA5SP252 RNA, 5S ribosomal pseudogene 252 8 8 10544079 10544197 + 10686569 10686687 + 100873508 ABBA01026889;AC105001;AMYH02017429;NG_033328 RN5S252 APPROVED pseudo HGNC:43152 INFERRED 6481872 RNA5SP256 RNA, 5S ribosomal pseudogene 256 100873510 AC124069;NG_033330 RN5S256 APPROVED pseudo HGNC:43156 INFERRED 6481871 RNA5SP255 RNA, 5S ribosomal pseudogene 255 8 8 13393538 13393644 + 13536029 13536135 + 100873509 ABBA01021622;AC022844;AMYH02017482;NG_033329 RN5S255 APPROVED pseudo HGNC:43155 INFERRED 6481874 RNA5SP257 RNA, 5S ribosomal pseudogene 257 8 8 20147685 20147800 + 20290174 20290289 + 100873511 ABBA01021548;AC023403;AMYH02017572;NG_033331 RN5S257 APPROVED pseudo HGNC:43157 INFERRED 6481875 RNA5SP258 RNA, 5S ribosomal pseudogene 258 100873512 AC113186;NG_033332 RN5S258 APPROVED pseudo HGNC:43158 INFERRED 6481876 RNA5SP259 RNA, 5S ribosomal pseudogene 259 8 8 28387928 28388036 + 28530411 28530519 + 100873513 ABBA01005604;AC011132;AMYH02017687;NG_033333 RN5S259 APPROVED pseudo HGNC:43159 INFERRED 6481931 RNA5SP26 RNA, 5S ribosomal pseudogene 26 100873358 AL354802;AL356495 RN5S26 APPROVED pseudo HGNC:42602 6481877 RNA5SP260 RNA, 5S ribosomal pseudogene 260 8 8 28906011 28906121 - 29048494 29048604 - 100873514 ABBA01005614;AC108449;AMYH02017693;NG_033334 RN5S260 APPROVED pseudo HGNC:43160 INFERRED 6481878 RNA5SP261 RNA, 5S ribosomal pseudogene 261 100873515 AC104000;NG_033335 RN5S261 APPROVED pseudo HGNC:43161 INFERRED 6481883 RNA5SP262 RNA, 5S ribosomal pseudogene 262 100873516 AC022850;NG_033336 RN5S262 APPROVED pseudo HGNC:43162 INFERRED 6481762 RNA5SP267 RNA, 5S ribosomal pseudogene 267 8 8 60368444 60368569 + 59455885 59456010 + 100873520 ABBA01041795;AC068394;AMYH02018046;NG_033340 RN5S267 APPROVED pseudo HGNC:43167 INFERRED 6481763 RNA5SP266 RNA, 5S ribosomal pseudogene 266 8 57126655 57126762 - 100873519 ABBA01041777;AC015528;AMYH02018023;NG_033339 RN5S266 APPROVED pseudo HGNC:43166 INFERRED 6481761 RNA5SP265 RNA, 5S ribosomal pseudogene 265 8 8 56657791 56657901 + 55745232 55745342 + 100873518 ABBA01041748;AC100817;AMYH02018011;NG_033338 RN5S265 APPROVED pseudo HGNC:43165 INFERRED 6481764 RNA5SP269 RNA, 5S ribosomal pseudogene 269 8 8 69607878 69608014 + 68695643 68695779 + 100873522 ABBA01041913;AC011884;AMYH02018149;NG_033342 RN5S269 APPROVED pseudo HGNC:43169 INFERRED 6481755 RNA5SP264 RNA, 5S ribosomal pseudogene 264 8 8 36621963 36622069 + 36764445 36764551 + 100873517 ABBA01023577;AC124076;AMYH02017806;NG_033337 RN5S264 APPROVED pseudo HGNC:43164 INFERRED 6481771 RNA5SP268 RNA, 5S ribosomal pseudogene 268 8 8 68011537 68011660 + 67099302 67099425 + 100873521 ABBA01041892;AC109335;AMYH02018123;NG_033341;NG_034100 RN5S268 APPROVED pseudo HGNC:43168 INFERRED 6481857 RNA5SP235 RNA, 5S ribosomal pseudogene 235 7 7 82647214 82647327 + 83017898 83018011 + 100873493 ABBA01058084;AC004886;AMYH02016168;NG_033313 RN5S235 APPROVED pseudo HGNC:43135 INFERRED 6481928 RNA5SP27 RNA, 5S ribosomal pseudogene 27 100873359 AL139326;NG_033500 RN5S27 APPROVED pseudo HGNC:42603 INFERRED 6481765 RNA5SP270 RNA, 5S ribosomal pseudogene 270 100873523 AC090574;NG_033343 RN5S270 APPROVED pseudo HGNC:43170 INFERRED 6481768 RNA5SP273 RNA, 5S ribosomal pseudogene 273 8 8 91523356 91523468 + 90511128 90511240 + 100873526 ABBA01037409;AF070718;AMYH02018395;NG_033346 RN5S273 APPROVED pseudo HGNC:43173 INFERRED 6481767 RNA5SP272 RNA, 5S ribosomal pseudogene 272 8 8 89408666 89408776 - 88396437 88396547 - 100873525 ABBA01037382;AC027259;AMYH02018378;NG_033345 RN5S272 APPROVED pseudo HGNC:43172 INFERRED 6481769 RNA5SP274 RNA, 5S ribosomal pseudogene 274 100873527 AC011118;NG_033347 RN5S274 APPROVED pseudo HGNC:43174 INFERRED 6481774 RNA5SP276 RNA, 5S ribosomal pseudogene 276 100873529 AC103863;NG_033350 RN5S276 APPROVED pseudo HGNC:43176 INFERRED 6481770 RNA5SP275 RNA, 5S ribosomal pseudogene 275 8 8 108896722 108896839 + 107884494 107884611 + 100873528 ABBA01037700;AC025508;AMYH02018585;NG_033348 RN5S275 APPROVED pseudo HGNC:43175 INFERRED 6481775 RNA5SP277 RNA, 5S ribosomal pseudogene 277 8 8 120903372 120903469 - 119891132 119891229 - 100873530 ABBA01037828;AMYH02018682;AP005717;NG_033352 RN5S277 APPROVED pseudo HGNC:43177 INFERRED 6481772 RNA5SP278 RNA, 5S ribosomal pseudogene 278 8 8 141950661 141950762 + 140940562 140940663 + 100873531 ABBA01013679;AC100860;AMYH02018894;NG_033354 RN5S278 APPROVED pseudo HGNC:43178 INFERRED 6481773 RNA5SP279 RNA, 5S ribosomal pseudogene 279 9 9 1333837 1333953 + 1333837 1333953 + 100873532 ABBA01065447;AL358934;AMYH02019037;NG_033356 RN5S279 APPROVED pseudo HGNC:43179 INFERRED 6481777 RNA5SP280 RNA, 5S ribosomal pseudogene 280 9 9 27198285 27198399 + 27198287 27198401 + 100873533 ABBA01065130;AL355433;AMYH02019349;NG_033358 RN5S280 APPROVED pseudo HGNC:43180 INFERRED 6481926 RNA5SP28 RNA, 5S ribosomal pseudogene 28 13 13 51387124 51387242 - 50812988 50813106 - 100873360 ABBA01051040;AL137880;AMYH02028027;NG_033502 RN5S28 APPROVED pseudo HGNC:42604 INFERRED 6481780 RNA5SP282 RNA, 5S ribosomal pseudogene 282 9 9 34206132 34206239 - 34206134 34206241 - 100873535 ABBA01065017;AL353662;AMYH02019441;NG_033362 RN5S282 APPROVED pseudo HGNC:43182 INFERRED 6481778 RNA5SP284 RNA, 5S ribosomal pseudogene 284 9 9 68408924 68409041 + 63813190 63813307 + 100873537 ABBA01002235;AMYH02020835;CR786580;NG_033366 RN5S284 APPROVED pseudo HGNC:43184 INFERRED 6481782 RNA5SP283 RNA, 5S ribosomal pseudogene 283 9 9 66458144 66458262 - 62802320 62802438 - 100873536 AL512625;AMYH02020750;NG_033364 RN5S283 APPROVED pseudo HGNC:43183 INFERRED 6481781 RNA5SP286 RNA, 5S ribosomal pseudogene 286 100873539 AL512594;NG_033370 RN5S286 APPROVED pseudo HGNC:43186 INFERRED 6481779 RNA5SP285 RNA, 5S ribosomal pseudogene 285 9 9 74914636 74914754 - 72299720 72299838 - 100873538 ABBA01033854;AL135924;AMYH02020976;NG_033368 RN5S285 APPROVED pseudo HGNC:43185 INFERRED 6481786 RNA5SP287 RNA, 5S ribosomal pseudogene 287 9 9 84500411 84500513 + 81885496 81885598 + 100873540 ABBA01033983;AL158154;AMYH02021091;NG_033372 RN5S287 APPROVED pseudo HGNC:43187 INFERRED 6481785 RNA5SP288 RNA, 5S ribosomal pseudogene 288 100873541 AL354893;NG_033374 RN5S288 APPROVED pseudo HGNC:43188 INFERRED 6481776 RNA5SP281 RNA, 5S ribosomal pseudogene 281 100873534 AL353573;NG_033360 RN5S281 APPROVED pseudo HGNC:43181 INFERRED 6481787 RNA5SP289 RNA, 5S ribosomal pseudogene 289 9 9 98667287 98667423 + 95905005 95905141 + 100873542 ABBA01043604;AL161454;AMYH02021288;NG_033376;NG_034107 RN5S289 APPROVED pseudo HGNC:43189 INFERRED 6481784 RNA5SP291 RNA, 5S ribosomal pseudogene 291 9 9 106451755 106451859 - 103689473 103689577 - 100873544 ABBA01042842;AL512639;AMYH02021371;NG_033380 RN5S291 APPROVED pseudo HGNC:43191 INFERRED 6481927 RNA5SP29 RNA, 5S ribosomal pseudogene 29 100873361 AL160157;NG_033504 RN5S29 APPROVED pseudo HGNC:42605 INFERRED 6481783 RNA5SP290 RNA, 5S ribosomal pseudogene 290 9 9 101908122 101908248 - 99145840 99145966 - 100873543 ABBA01042903;AL162427;AMYH02021329;NG_033378 RN5S290 APPROVED pseudo HGNC:43190 INFERRED 6481792 RNA5SP295 RNA, 5S ribosomal pseudogene 295 9 9 115014538 115014658 + 112252258 112252378 + 100873548 ABBA01042709;AL158824;AMYH02021485;NG_033388 RN5S295 APPROVED pseudo HGNC:43195 INFERRED 6481789 RNA5SP292 RNA, 5S ribosomal pseudogene 292 100873545 AL590362;NG_033382 RN5S292 APPROVED pseudo HGNC:43192 INFERRED 6481788 RNA5SP294 RNA, 5S ribosomal pseudogene 294 9 9 114173924 114174022 - 111411644 111411742 - 100873547 ABBA01042732;AL354661;AMYH02021478;NG_033386 RN5S294 APPROVED pseudo HGNC:43194 INFERRED 6481791 RNA5SP293 RNA, 5S ribosomal pseudogene 293 9 9 110681147 110681259 - 107918866 107918978 - 100873546 ABBA01042781;AL353137;AMYH02021425;NG_033384 RN5S293 APPROVED pseudo HGNC:43193 INFERRED 6481793 RNA5SP296 RNA, 5S ribosomal pseudogene 296 9 9 130603391 130603501 - 127841112 127841222 - 100873549 ABBA01043849;AL157935;AMYH02021699;NG_033390 RN5S296 APPROVED pseudo HGNC:43196 INFERRED 6481816 RNA5SP299 RNA, 5S ribosomal pseudogene 299 10 10 8698679 8698794 - 8656716 8656831 - 100873574 ABBA01034722;AL355333;AMYH02022096;NG_033440 RN5S299 APPROVED pseudo HGNC:43199 INFERRED 6481925 RNA5SP30 RNA, 5S ribosomal pseudogene 30 13 13 58565484 58565598 + 57991350 57991464 + 100873362 ABBA01037014;AL157772;NG_033506 RN5S30 APPROVED pseudo HGNC:42606 INFERRED 6481823 RNA5SP300 RNA, 5S ribosomal pseudogene 300 10 10 12966679 12966785 - 12924679 12924785 - 100873575 ABBA01034635;AL353586;AMYH02022163;NG_033442 RN5S300 APPROVED pseudo HGNC:43200 INFERRED 6481820 RNA5SP301 RNA, 5S ribosomal pseudogene 301 10 10 13769796 13769916 + 13727796 13727916 + 100873576 ABBA01034623;AL157392;AMYH02022184;NG_033444 RN5S301 APPROVED pseudo HGNC:43201 INFERRED 6481730 RNA5SP309 RNA, 5S ribosomal pseudogene 309 10 10 31548528 31548633 + 31259599 31259704 + 100873583 ABBA01033404;AL117340;AMYH02022571;NG_033459 RN5S309 APPROVED pseudo HGNC:43209 INFERRED 6481734 RNA5SP308 RNA, 5S ribosomal pseudogene 308 10 10 29163322 29163436 - 28874393 28874507 - 100873582 ABBA01034371;AL390248;AMYH02022543;NG_033457 RN5S308 APPROVED pseudo HGNC:43208 INFERRED 6481726 RNA5SP304 RNA, 5S ribosomal pseudogene 304 10 10 23286184 23286287 + 22997255 22997358 + 100873578 ABBA01034471;AL139815;AMYH02022443;NG_033449 RN5S304 APPROVED pseudo HGNC:43204 INFERRED 6481729 RNA5SP306 RNA, 5S ribosomal pseudogene 306 10 10 26102740 26102846 - 25813811 25813917 - 100873580 ABBA01034427;AL731546;AMYH02022492;NG_033453 RN5S306 APPROVED pseudo HGNC:43206 INFERRED 6481735 RNA5SP307 RNA, 5S ribosomal pseudogene 307 10 10 26798518 26798633 + 26509589 26509704 + 100873581 ABBA01034421;AL160287;AMYH02022496;NG_033455 RN5S307 APPROVED pseudo HGNC:43207 INFERRED 6481728 RNA5SP305 RNA, 5S ribosomal pseudogene 305 10 10 24929095 24929213 + 24640166 24640284 + 100873579 ABBA01034448;AL392104;AMYH02022475;NG_033451 RN5S305 APPROVED pseudo HGNC:43205 INFERRED 6481725 RNA5SP303 RNA, 5S ribosomal pseudogene 303 10 10 19922612 19922741 - 19633683 19633812 - 100873577 ABBA01034518;AL157895;AMYH02022399;NG_033447 RN5S303 APPROVED pseudo HGNC:43203 INFERRED 6481766 RNA5SP271 RNA, 5S ribosomal pseudogene 271 8 8 73269963 73270050 + 72357728 72357815 + 100873524 ABBA01041958;AC124293;AMYH02018194;NG_033344 RN5S271 APPROVED pseudo HGNC:43171 INFERRED 6481731 RNA5SP319 RNA, 5S ribosomal pseudogene 319 100873585 AL136233;NG_033463 RN5S319 APPROVED pseudo HGNC:43219 INFERRED 6481935 RNA5SP32 RNA, 5S ribosomal pseudogene 32 13 13 72552226 72552344 + 71978088 71978206 + 100873364 ABBA01050328;AL445923;AMYH02028241;NG_033510 RN5S32 APPROVED pseudo HGNC:42608 INFERRED 6481740 RNA5SP323 RNA, 5S ribosomal pseudogene 323 100873589 AL356214;NG_033469 RN5S323 APPROVED pseudo HGNC:43223 INFERRED 6481733 RNA5SP321 RNA, 5S ribosomal pseudogene 321 10 10 79346807 79346917 + 77587049 77587159 + 100873587 ABBA01020232;AL731556;AMYH02023382;NG_033467 RN5S321 APPROVED pseudo HGNC:43221 INFERRED 6481929 RNA5SP31 RNA, 5S ribosomal pseudogene 31 13 13 61187742 61187868 + 60613608 60613734 + 100873363 ABBA01050216;AL161901;NG_033508 RN5S31 APPROVED pseudo HGNC:42607 INFERRED 6481737 RNA5SP320 RNA, 5S ribosomal pseudogene 320 10 10 75466248 75466371 + 73706490 73706613 + 100873586 ABBA01020313;AC022400;AMYH02023338;NG_033465 RN5S320 APPROVED pseudo HGNC:43220 INFERRED 6481732 RNA5SP318 RNA, 5S ribosomal pseudogene 318 100873584 AC026223;NG_033461 RN5S318 APPROVED pseudo HGNC:43218 INFERRED 6481736 RNA5SP322 RNA, 5S ribosomal pseudogene 322 10 10 87812205 87812323 + 86052448 86052566 + 100873588 ABBA01033653;AC079955;AMYH02023472;NG_033468 RN5S322 APPROVED pseudo HGNC:43222 INFERRED 6481738 RNA5SP324 RNA, 5S ribosomal pseudogene 324 10 10 98379133 98379240 + 96619376 96619483 + 100873590 ABBA01021828;AL138765;AMYH02023593;NG_033471 RN5S324 APPROVED pseudo HGNC:43224 INFERRED 6481739 RNA5SP325 RNA, 5S ribosomal pseudogene 325 10 10 108729779 108729908 + 106970021 106970150 + 100873591 ABBA01063061;AL160010;AMYH02023766;NG_033473 RN5S325 APPROVED pseudo HGNC:43225 INFERRED 6481741 RNA5SP327 RNA, 5S ribosomal pseudogene 327 100873593 AL136368;NG_033476 RN5S327 APPROVED pseudo HGNC:43227 INFERRED 6481743 RNA5SP329 RNA, 5S ribosomal pseudogene 329 100873595 AC111177;NG_033478 RN5S329 APPROVED pseudo HGNC:43229 INFERRED 6481742 RNA5SP328 RNA, 5S ribosomal pseudogene 328 10 10 127834043 127834151 - 126145474 126145582 - 100873594 ABBA01034175;AC022015;AMYH02024001;NG_033477 RN5S328 APPROVED pseudo HGNC:43228 INFERRED 6481744 RNA5SP330 RNA, 5S ribosomal pseudogene 330 100873596 AC026894;NG_033479 RN5S330 APPROVED pseudo HGNC:43230 INFERRED 6481745 RNA5SP326 RNA, 5S ribosomal pseudogene 326 10 10 109221318 109221427 + 107461560 107461669 + 100873592 ABBA01063058;AC022024;AMYH02023770;NG_033475 RN5S326 APPROVED pseudo HGNC:43226 INFERRED 6481932 RNA5SP33 RNA, 5S ribosomal pseudogene 33 13 13 79963669 79963766 - 79389534 79389631 - 100873365 ABBA01021689;AL159974;AMYH02028339;NG_033512 RN5S33 APPROVED pseudo HGNC:42609 INFERRED 6481746 RNA5SP332 RNA, 5S ribosomal pseudogene 332 11 11 14156532 14156646 + 14134986 14135100 + 100873598 ABBA01061116;AC099738;AMYH02024351;NG_033481 RN5S332 APPROVED pseudo HGNC:43232 INFERRED 6481749 RNA5SP336 RNA, 5S ribosomal pseudogene 336 11 11 21022427 21022543 - 21000881 21000997 - 100873599 ABBA01061020;AC067794;AMYH02024420;NG_033482 RN5S336 APPROVED pseudo HGNC:43236 INFERRED 6481747 RNA5SP337 RNA, 5S ribosomal pseudogene 337 11 11 21405347 21405455 - 21383801 21383909 - 100873600 ABBA01061018;AC099730;AMYH02024424;NG_033483 RN5S337 APPROVED pseudo HGNC:43237 INFERRED 6481750 RNA5SP338 RNA, 5S ribosomal pseudogene 338 11 11 22709897 22709981 + 22688351 22688435 + 100873601 ABBA01061015;AC103801;AMYH02024434;NG_033484 RN5S338 APPROVED pseudo HGNC:43238 INFERRED 6481751 RNA5SP339 RNA, 5S ribosomal pseudogene 339 100873602 AC100771;NG_033485 RN5S339 APPROVED pseudo HGNC:43239 INFERRED 6481748 RNA5SP331 RNA, 5S ribosomal pseudogene 331 11 11 13929031 13929137 - 13907484 13907590 - 100873597 ABBA01061118;AC027779;AMYH02024350;NG_033480 RN5S331 APPROVED pseudo HGNC:43231 INFERRED 6481933 RNA5SP34 RNA, 5S ribosomal pseudogene 34 100873366 AL354915;NG_033514 RN5S34 APPROVED pseudo HGNC:42610 INFERRED 6481754 RNA5SP340 RNA, 5S ribosomal pseudogene 340 11 11 47825848 47825954 - 47804296 47804402 - 100873603 ABBA01060691;AC021443;AMYH02024742;NG_033486 RN5S340 APPROVED pseudo HGNC:43240 INFERRED 6481753 RNA5SP341 RNA, 5S ribosomal pseudogene 341 100873604 AP002893;NG_033487 RN5S341 APPROVED pseudo HGNC:43241 INFERRED 6481758 RNA5SP344 RNA, 5S ribosomal pseudogene 344 100873606 AP003168;NG_033489 RN5S344 APPROVED pseudo HGNC:43244 INFERRED 6481752 RNA5SP343 RNA, 5S ribosomal pseudogene 343 11 11 73909793 73909899 - 74198748 74198854 - 100873605 ABBA01017494;AMYH02025104;AP000577;NG_033488 RN5S343 APPROVED pseudo HGNC:43243 INFERRED 6481756 RNA5SP345 RNA, 5S ribosomal pseudogene 345 11 11 95573181 95573288 - 95840017 95840124 - 100873607 ABBA01040009;AMYH02025385;AP001877;NG_033490 RN5S345 APPROVED pseudo HGNC:43245 INFERRED 6481757 RNA5SP346 RNA, 5S ribosomal pseudogene 346 100873608 AP003781;NG_033491 RN5S346 APPROVED pseudo HGNC:43246 INFERRED 6481760 RNA5SP347 RNA, 5S ribosomal pseudogene 347 11 11 97528464 97528582 + 97657464 97657582 + 100873609 ABBA01039993;AMYH02025412;AP005434;NG_033492 RN5S347 APPROVED pseudo HGNC:43247 INFERRED 6481759 RNA5SP348 RNA, 5S ribosomal pseudogene 348 11 11 104123307 104123343 + 104252579 104252615 + 100873610 ABBA01039919;AMYH02025502;AP003304;NG_033493 RN5S348 APPROVED pseudo HGNC:43248 INFERRED 6481930 RNA5SP35 RNA, 5S ribosomal pseudogene 35 13 13 94677724 94677852 - 94025470 94025598 - 100873367 ABBA01027213;AL161426;AMYH02028497;NG_033516 RN5S35 APPROVED pseudo HGNC:42611 INFERRED 6481668 RNA5SP354 RNA, 5S ribosomal pseudogene 354 12 12 26526531 26526666 - 26373598 26373733 - 100873614 ABBA01068033;AC055720;AMYH02026233;NG_033499 RN5S354 APPROVED pseudo HGNC:43254 INFERRED 6481667 RNA5SP352 RNA, 5S ribosomal pseudogene 352 11 11 124506355 124506488 + 124636459 124636592 + 100873612 ABBA01031255;AMYH02025723;AP001524;NG_033496 RN5S352 APPROVED pseudo HGNC:43252 INFERRED 6481672 RNA5SP353 RNA, 5S ribosomal pseudogene 353 12 12 13593818 13593935 - 13440884 13441001 - 100873613 ABBA01067859;AC011594;AMYH02026076;NG_033498 RN5S353 APPROVED pseudo HGNC:43253 INFERRED 6481665 RNA5SP349 RNA, 5S ribosomal pseudogene 349 11 11 108991605 108991713 - 109120878 109120986 - 100873611 ABBA01039856;AMYH02025559;AP003123;NG_033494 RN5S349 APPROVED pseudo HGNC:43249 INFERRED 6481669 RNA5SP358 RNA, 5S ribosomal pseudogene 358 12 12 38555268 38555384 - 38161466 38161582 - 100873617 ABBA01049519;AC079460;AMYH02026324;NG_033505 RN5S358 APPROVED pseudo HGNC:43258 INFERRED 6481670 RNA5SP357 RNA, 5S ribosomal pseudogene 357 12 12 34358634 34358752 + 34205699 34205817 + 100873616 ABBA01031682;AC140847;AMYH02026320;NG_033503 RN5S357 APPROVED pseudo HGNC:43257 INFERRED 6481671 RNA5SP356 RNA, 5S ribosomal pseudogene 356 12 12 30459364 30459457 - 30306431 30306524 - 100873615 ABBA01068087;AC078776;AMYH02026266;NG_033501 RN5S356 APPROVED pseudo HGNC:43256 INFERRED 6481674 RNA5SP360 RNA, 5S ribosomal pseudogene 360 100873619 AC018698;NG_033509 RN5S360 APPROVED pseudo HGNC:43260 INFERRED 6481677 RNA5SP362 RNA, 5S ribosomal pseudogene 362 12 12 66460001 66460118 + 66066221 66066338 + 100873621 ABBA01026579;AC135255;AMYH02026676;NG_033513 RN5S362 APPROVED pseudo HGNC:43262 INFERRED 6481676 RNA5SP363 RNA, 5S ribosomal pseudogene 363 12 12 80272085 80272199 - 79878305 79878419 - 100873622 ABBA01053499;AC074270;AMYH02026818;NG_033515 RN5S363 APPROVED pseudo HGNC:43263 INFERRED 6481934 RNA5SP36 RNA, 5S ribosomal pseudogene 36 13 13 95303651 95303783 - 94651397 94651529 - 100873368 ABBA01027207;AL137061;AMYH02028506;NG_033518 RN5S36 APPROVED pseudo HGNC:42612 INFERRED 6481673 RNA5SP359 RNA, 5S ribosomal pseudogene 359 12 12 38557205 38557317 - 38163403 38163515 - 100873618 ABBA01049519;AC079460;AMYH02026324;NG_033507 RN5S359 APPROVED pseudo HGNC:43259 INFERRED 6481675 RNA5SP361 RNA, 5S ribosomal pseudogene 361 12 45117771 45117888 + 100873620 ABBA01031439;AC008127;AMYH02026397;NG_033511 RN5S361 APPROVED pseudo HGNC:43261 INFERRED 6481678 RNA5SP364 RNA, 5S ribosomal pseudogene 364 12 12 88445478 88445555 + 88051701 88051778 + 100873623 ABBA01053428;AC091516;AMYH02026897;NG_033517 RN5S364 APPROVED pseudo HGNC:43264 INFERRED 6481679 RNA5SP365 RNA, 5S ribosomal pseudogene 365 100873624 AC009522;NG_033519 RN5S365 APPROVED pseudo HGNC:43265 INFERRED 6481680 RNA5SP367 RNA, 5S ribosomal pseudogene 367 100873626 AC090671;NG_033523 RN5S367 APPROVED pseudo HGNC:43267 INFERRED 6481685 RNA5SP366 RNA, 5S ribosomal pseudogene 366 12 12 99477561 99477683 - 99083783 99083905 - 100873625 ABBA01053276;AC117377;AMYH02027046;NG_033521 RN5S366 APPROVED pseudo HGNC:43266 INFERRED 6481682 RNA5SP371 RNA, 5S ribosomal pseudogene 371 12 12 107880288 107880412 - 107486511 107486635 - 100873629 ABBA01053155;AC009774;AMYH02027143;NG_033529 RN5S371 APPROVED pseudo HGNC:43271 INFERRED 6481684 RNA5SP369 RNA, 5S ribosomal pseudogene 369 12 12 102230598 102230705 + 101836820 101836927 + 100873628 ABBA01053236;AC063950;AMYH02027074;NG_033527 RN5S369 APPROVED pseudo HGNC:43269 INFERRED 6481681 RNA5SP368 RNA, 5S ribosomal pseudogene 368 12 12 102173592 102173707 + 101779814 101779929 + 100873627 ABBA01053237;AC063950;AMYH02027073;NG_033525 RN5S368 APPROVED pseudo HGNC:43268 INFERRED 6481940 RNA5SP37 RNA, 5S ribosomal pseudogene 37 13 13 98015226 98015355 - 97362972 97363101 - 100873369 ABBA01027163;AL442067;AMYH02028545;NG_033520 RN5S37 APPROVED pseudo HGNC:42613 INFERRED 6481683 RNA5SP372 RNA, 5S ribosomal pseudogene 372 12 12 109497791 109497905 + 109059986 109060100 + 100873630 ABBA01005060;AC011596;AMYH02027164;NG_033531 RN5S372 APPROVED pseudo HGNC:43272 INFERRED 6481687 RNA5SP374 RNA, 5S ribosomal pseudogene 374 12 12 119267486 119267610 + 118829681 118829805 + 100873632 ABBA01020064;AC087863;AMYH02027339;NG_033535 RN5S374 APPROVED pseudo HGNC:43274 INFERRED 6481686 RNA5SP375 RNA, 5S ribosomal pseudogene 375 12 12 123767463 123767581 - 123282916 123283034 - 100873633 ABBA01060428;AC068768;AMYH02027452;NG_033537 RN5S375 APPROVED pseudo HGNC:43275 INFERRED 6481937 RNA5SP38 RNA, 5S ribosomal pseudogene 38 13 13 106807721 106807839 - 106155372 106155490 - 100873370 ABBA01027050;AL161617;AMYH02028661;NG_033522 RN5S38 APPROVED pseudo HGNC:42614 INFERRED 6481694 RNA5SP384 RNA, 5S ribosomal pseudogene 384 14 14 50019351 50019466 + 49552633 49552748 + 100873639 ABBA01018109;AL139099;AMYH02029146;NG_033549 RN5S384 APPROVED pseudo HGNC:43284 INFERRED 6481692 RNA5SP382 RNA, 5S ribosomal pseudogene 382 14 14 20883146 20883257 + 20414987 20415098 + 100873637 ABBA01061227;AL355075;AMYH02028823;NG_033545 RN5S382 APPROVED pseudo HGNC:43282 INFERRED 6481688 RNA5SP378 RNA, 5S ribosomal pseudogene 378 12 12 132285860 132285979 - 131801315 131801434 - 100873634 ABBA01032805;AC131009;AMYH02027568;NG_033539 RN5S378 APPROVED pseudo HGNC:43278 INFERRED 6481690 RNA5SP383 RNA, 5S ribosomal pseudogene 383 14 14 24627812 24627931 + 24158603 24158722 + 100873638 ABBA01061334;AL136295;AMYH02028879;NG_033547 RN5S383 APPROVED pseudo HGNC:43283 INFERRED 6481691 RNA5SP373 RNA, 5S ribosomal pseudogene 373 12 12 111777331 111777425 + 111339527 111339621 + 100873631 ABBA01019886;AC005805;AMYH02027204;NG_033533 RN5S373 APPROVED pseudo HGNC:43273 INFERRED 6481689 RNA5SP379 RNA, 5S ribosomal pseudogene 379 12 12 133300531 133300643 - 132723945 132724057 - 100873635 ABBA01012372;AC135586;AMYH02027591;NG_033541;NG_034022 RN5S379 APPROVED pseudo HGNC:43279 INFERRED 6481693 RNA5SP380 RNA, 5S ribosomal pseudogene 380 14 14 20558289 20558386 + 20090130 20090227 + 100873636 ABBA01061218;AL163152;AMYH02028815;NG_033543 RN5S380 APPROVED pseudo HGNC:43280 INFERRED 6481695 RNA5SP385 RNA, 5S ribosomal pseudogene 385 14 14 52159470 52159579 + 51692752 51692861 + 100873640 ABBA01018156;AL079307;AMYH02029183;NG_033551 RN5S385 APPROVED pseudo HGNC:43285 INFERRED 6481939 RNA5SP39 RNA, 5S ribosomal pseudogene 39 100873371 AL157762;NG_033524 RN5S39 APPROVED pseudo HGNC:42615 INFERRED 6481696 RNA5SP386 RNA, 5S ribosomal pseudogene 386 14 14 68123822 68123928 - 67657105 67657211 - 100873641 ABBA01023707;AL049779;AMYH02029403;NG_033553 RN5S386 APPROVED pseudo HGNC:43286 INFERRED 6481698 RNA5SP388 RNA, 5S ribosomal pseudogene 388 14 14 78644146 78644264 - 78177803 78177921 - 100873642 ABBA01030638;AC007955;AMYH02029587;NG_033555 RN5S388 APPROVED pseudo HGNC:43288 INFERRED 6481702 RNA5SP390 RNA, 5S ribosomal pseudogene 390 15 15 25983655 25983767 + 25738508 25738620 + 100873643 ABBA01048698;AC109512;AMYH02030099;NG_033557 RN5S390 APPROVED pseudo HGNC:43290 INFERRED 6481697 RNA5SP391 RNA, 5S ribosomal pseudogene 391 100873644 AC136896;NG_033559 RN5S391 APPROVED pseudo HGNC:43291 INFERRED 6481699 RNA5SP392 RNA, 5S ribosomal pseudogene 392 15 15 40623738 40623849 - 40331537 40331648 - 100873645 ABBA01038453;AC013356;AMYH02030237;NG_033561 RN5S392 APPROVED pseudo HGNC:43292 INFERRED 6481700 RNA5SP393 RNA, 5S ribosomal pseudogene 393 15 15 42144111 42144227 - 41851913 41852029 - 100873646 ABBA01038386;AC020659;AMYH02030279;NG_033563 RN5S393 APPROVED pseudo HGNC:43293 INFERRED 6481705 RNA5SP395 RNA, 5S ribosomal pseudogene 395 15 15 50755578 50755695 + 50463381 50463498 + 100873648 ABBA01039112;AC012170;AMYH02030406;NG_033567 RN5S395 APPROVED pseudo HGNC:43295 INFERRED 6481703 RNA5SP396 RNA, 5S ribosomal pseudogene 396 15 15 59866302 59866421 - 59574103 59574222 - 100873649 ABBA01038959;AC092754;AMYH02030545;NG_033569 RN5S396 APPROVED pseudo HGNC:43296 INFERRED 6481704 RNA5SP398 RNA, 5S ribosomal pseudogene 398 15 15 69659924 69660020 + 69367585 69367681 + 100873651 ABBA01038768;AC027237;AMYH02030697;NG_033573 RN5S398 APPROVED pseudo HGNC:43298 INFERRED 6481707 RNA5SP397 RNA, 5S ribosomal pseudogene 397 15 15 61028968 61029085 + 60736769 60736886 + 100873650 ABBA01038942;AC009560;AMYH02030556;NG_033571 RN5S397 APPROVED pseudo HGNC:43297 INFERRED 6481701 RNA5SP394 RNA, 5S ribosomal pseudogene 394 15 15 50274640 50274758 + 49982443 49982561 + 100873647 ABBA01039120;AC016045;AMYH02030396;NG_033565 RN5S394 APPROVED pseudo HGNC:43294 INFERRED 6482073 RNA5SP40 RNA, 5S ribosomal pseudogene 40 100873279 AL928921;NG_033361 RN5S40 APPROVED pseudo HGNC:42816 INFERRED 6481708 RNA5SP400 RNA, 5S ribosomal pseudogene 400 15 15 86681500 86681610 - 86138269 86138379 - 100873653 ABBA01052977;AC016180;AMYH02030975;NG_033577;NG_033836 RN5S400 APPROVED pseudo HGNC:43300 INFERRED 6481711 RNA5SP399 RNA, 5S ribosomal pseudogene 399 100873652 AC104938;NG_033575 RN5S399 APPROVED pseudo HGNC:43299 INFERRED 6481709 RNA5SP402 RNA, 5S ribosomal pseudogene 402 15 15 100614286 100614395 - 100074081 100074190 - 100873655 ABBA01020547;AC022710;AMYH02031157;NG_033581 RN5S402 APPROVED pseudo HGNC:43302 INFERRED 6481710 RNA5SP404 RNA, 5S ribosomal pseudogene 404 16 16 9693954 9694085 + 9600097 9600228 + 100873656 ABBA01019753;AC007221;AMYH02031429;NG_033583 RN5S404 APPROVED pseudo HGNC:43304 INFERRED 6481706 RNA5SP401 RNA, 5S ribosomal pseudogene 401 100873654 AC109808;NG_033579 RN5S401 APPROVED pseudo HGNC:43301 INFERRED 6481714 RNA5SP405 RNA, 5S ribosomal pseudogene 405 16 16 26040233 26040346 + 26028912 26029025 + 100873657 ABBA01017130;AC093509;AMYH02031756;NG_033585 RN5S405 APPROVED pseudo HGNC:43305 INFERRED 6481713 RNA5SP406 RNA, 5S ribosomal pseudogene 406 16 16 34968764 34968875 + 35734393 35734504 + 100873658 ABBA01002111;AC106785;AMYH02031961;NG_033587 RN5S406 APPROVED pseudo HGNC:43306 INFERRED 6481712 RNA5SP408 RNA, 5S ribosomal pseudogene 408 16 16 34969743 34969842 + 35735372 35735471 + 100873660 ABBA01002111;AC106785;AMYH02031961;NG_033591 RN5S408 APPROVED pseudo HGNC:43308 INFERRED 6481715 RNA5SP407 RNA, 5S ribosomal pseudogene 407 16 16 34969010 34969119 + 35734639 35734748 + 100873659 ABBA01002111;AC106785;AMYH02031961;NG_033589 RN5S407 APPROVED pseudo HGNC:43307 INFERRED 6482077 RNA5SP41 RNA, 5S ribosomal pseudogene 41 1 1 13949679 13949779 - 13623184 13623284 - 100873280 ABBA01017217;AL359771;AMYH02000325;NG_033363 RN5S41 APPROVED pseudo HGNC:42817 INFERRED 6483491 RNA5SP411 RNA, 5S ribosomal pseudogene 411 16 16 p11.1 34980894 34981007 + 35746523 35746636 + 100887740 ABBA01002110;AC106785;AMYH02031961;NG_033592 RN5S411 APPROVED pseudo HGNC:43311 INFERRED 6481716 RNA5SP409 RNA, 5S ribosomal pseudogene 409 16 16 34969996 34970104 + 35735625 35735733 + 100873661 ABBA01002111;AC106785;AMYH02031961;NG_033594 RN5S409 APPROVED pseudo HGNC:43309 INFERRED 6481721 RNA5SP412 RNA, 5S ribosomal pseudogene 412 16 16 34981143 34981265 + 35746772 35746894 + 100873663 ABBA01002110;AC106785;AMYH02031961;NG_033598 RN5S412 APPROVED pseudo HGNC:43312 INFERRED 6481719 RNA5SP413 RNA, 5S ribosomal pseudogene 413 16 16 34981403 34981511 + 35747032 35747140 + 100873664 ABBA01002110;AC106785;AMYH02031961;NG_033600 RN5S413 APPROVED pseudo HGNC:43313 INFERRED 6481720 RNA5SP414 RNA, 5S ribosomal pseudogene 414 16 16 34982891 34983026 + 35748520 35748655 + 100873665 ABBA01002110;AC106785;AMYH02031961;NG_033602 RN5S414 APPROVED pseudo HGNC:43314 INFERRED 6481718 RNA5SP415 RNA, 5S ribosomal pseudogene 415 16 16 34984432 34984546 + 35750061 35750175 + 100873666 ABBA01002110;AC106785;AMYH02031961;NG_033604 RN5S415 APPROVED pseudo HGNC:43315 INFERRED 6481722 RNA5SP417 RNA, 5S ribosomal pseudogene 417 16 16 34986199 34986306 + 35751828 35751935 + 100873668 ABBA01002110;AC106785;AMYH02031961;NG_033608 RN5S417 APPROVED pseudo HGNC:43317 INFERRED 6481723 RNA5SP416 RNA, 5S ribosomal pseudogene 416 16 16 34985945 34986055 + 35751574 35751684 + 100873667 ABBA01002110;AC106785;AMYH02031961;NG_033606 RN5S416 APPROVED pseudo HGNC:43316 INFERRED 6481727 RNA5SP418 RNA, 5S ribosomal pseudogene 418 16 16 34987197 34987313 + 35752826 35752942 + 100873669 ABBA01002110;AC106785;AMYH02031961;NG_033610 RN5S418 APPROVED pseudo HGNC:43318 INFERRED 6481724 RNA5SP419 RNA, 5S ribosomal pseudogene 419 16 16 34988167 34988301 + 35753796 35753930 + 100873670 ABBA01002110;AC106785;AMYH02031961;NG_033612 RN5S419 APPROVED pseudo HGNC:43319 INFERRED 6481605 RNA5SP420 RNA, 5S ribosomal pseudogene 420 16 16 34988417 34988553 + 35754046 35754182 + 100873671 ABBA01002110;AC106785;AMYH02031961;NG_033614 RN5S420 APPROVED pseudo HGNC:43320 INFERRED 6481607 RNA5SP421 RNA, 5S ribosomal pseudogene 421 16 16 34988926 34989059 + 35754555 35754688 + 100873672 ABBA01002110;AC106785;AMYH02031961;NG_033616 RN5S421 APPROVED pseudo HGNC:43321 INFERRED 6482083 RNA5SP42 RNA, 5S ribosomal pseudogene 42 1 1 34578550 34578664 + 34112949 34113063 + 100873281 ABBA01023369;AL596224;AMYH02000741;NG_033365 RN5S42 APPROVED pseudo HGNC:42818 INFERRED 6481608 RNA5SP422 RNA, 5S ribosomal pseudogene 422 16 16 34989294 34989404 + 35754923 35755033 + 100873673 ABBA01002110;AC106785;AMYH02031961;NG_033618 RN5S422 APPROVED pseudo HGNC:43322 INFERRED 6481611 RNA5SP423 RNA, 5S ribosomal pseudogene 423 16 16 34989548 34989656 + 35755177 35755285 + 100873674 ABBA01002110;AC106785;AMYH02031961;NG_033620 RN5S423 APPROVED pseudo HGNC:43323 INFERRED 6481717 RNA5SP410 RNA, 5S ribosomal pseudogene 410 16 16 34980360 34980465 + 35745989 35746094 + 100873662 ABBA01002110;AC106785;AMYH02031961;NG_033596 RN5S410 APPROVED pseudo HGNC:43310 INFERRED 6481610 RNA5SP425 RNA, 5S ribosomal pseudogene 425 16 16 47539343 47539454 + 47505432 47505543 + 100873676 ABBA01013751;AC007599;AMYH02031975;NG_033624 RN5S425 APPROVED pseudo HGNC:43325 INFERRED 6481609 RNA5SP424 RNA, 5S ribosomal pseudogene 424 16 16 47484258 47484372 - 47450347 47450461 - 100873675 ABBA01013751;AC007599;AMYH02031974;NG_033622 RN5S424 APPROVED pseudo HGNC:43324 INFERRED 6481613 RNA5SP426 RNA, 5S ribosomal pseudogene 426 16 16 50903366 50903486 - 50869455 50869575 - 100873677 ABBA01000864;AC025810;AMYH02032018;NG_033626 RN5S426 APPROVED pseudo HGNC:43326 INFERRED 6481615 RNA5SP427 RNA, 5S ribosomal pseudogene 427 100873678 AC079416;NG_033628 RN5S427 APPROVED pseudo HGNC:43327 INFERRED 6482081 RNA5SP43 RNA, 5S ribosomal pseudogene 43 1 1 37730278 37730387 - 37264677 37264786 - 100873282 ABBA01023287;AL353604;AMYH02000794;NG_033367 RN5S43 APPROVED pseudo HGNC:42819 INFERRED 6481612 RNA5SP430 RNA, 5S ribosomal pseudogene 430 16 16 75894946 75895055 - 75861048 75861157 - 100873680 ABBA01017054;AC105430;AMYH02032407;NG_033632 RN5S430 APPROVED pseudo HGNC:43330 INFERRED 6481614 RNA5SP428 RNA, 5S ribosomal pseudogene 428 16 16 66335712 66335843 + 66301809 66301940 + 100873679 ABBA01025403;AC012325;AMYH02032200;NG_033630 RN5S428 APPROVED pseudo HGNC:43328 INFERRED 6481618 RNA5SP431 RNA, 5S ribosomal pseudogene 431 16 16 79298351 79298470 + 79264454 79264573 + 100873681 ABBA01017011;AC092376;AMYH02032472;NG_033634 RN5S431 APPROVED pseudo HGNC:43331 INFERRED 6481616 RNA5SP432 RNA, 5S ribosomal pseudogene 432 16 16 84073523 84073638 - 84039918 84040033 - 100873682 ABBA01016920;AC040169;AMYH02032559;NG_033636;NG_034136 RN5S432 APPROVED pseudo HGNC:43332 INFERRED 6481623 RNA5SP434 RNA, 5S ribosomal pseudogene 434 17 17 3960050 3960170 - 4056756 4056876 - 100873684 ABBA01054754;AC067815;AMYH02032814;NG_033640 RN5S434 APPROVED pseudo HGNC:43334 INFERRED 6481620 RNA5SP433 RNA, 5S ribosomal pseudogene 433 16 16 84296421 84296534 - 84262815 84262928 - 100873683 ABBA01016916;AC010551;AMYH02032564;NG_033638 RN5S433 APPROVED pseudo HGNC:43333 INFERRED 6481619 RNA5SP436 RNA, 5S ribosomal pseudogene 436 17 15685655 15685769 + 100873685 ABBA01035675;AC015922;AMYH02033060;NG_033642 RN5S436 APPROVED pseudo HGNC:43336 INFERRED 6481617 RNA5SP437 RNA, 5S ribosomal pseudogene 437 17 17 30290824 30290952 - 31963805 31963933 - 100873686 ABBA01014942;AC129917;AMYH02033307;NG_033644 RN5S437 APPROVED pseudo HGNC:43337 INFERRED 6481621 RNA5SP438 RNA, 5S ribosomal pseudogene 438 17 17 32447075 32447186 - 34120056 34120167 - 100873687 ABBA01011210;AC004147;AMYH02033336;NG_033646 RN5S438 APPROVED pseudo HGNC:43338 INFERRED 6482080 RNA5SP44 RNA, 5S ribosomal pseudogene 44 1 1 39619836 39619968 - 39154164 39154296 - 100873283 ABBA01023219;AL356055;AMYH02000827;NG_033369 RN5S44 APPROVED pseudo HGNC:42820 INFERRED 6481622 RNA5SP440 RNA, 5S ribosomal pseudogene 440 17 17 36888055 36888173 - 38731802 38731920 - 100873688 ABBA01031903;AC006449;AMYH02033362;NG_033648 RN5S440 APPROVED pseudo HGNC:43340 INFERRED 6481624 RNA5SP441 RNA, 5S ribosomal pseudogene 441 17 17 38530341 38530428 + 40374089 40374176 + 100873689 ABBA01031831;AC080112;AMYH02033398;NG_033650 RN5S441 APPROVED pseudo HGNC:43341 INFERRED 6481625 RNA5SP445 RNA, 5S ribosomal pseudogene 445 17 17 64635387 64635501 + 66639269 66639383 + 100873691 ABBA01029024;AC006947;AMYH02033825;NG_033654 RN5S445 APPROVED pseudo HGNC:43345 INFERRED 6481629 RNA5SP444 RNA, 5S ribosomal pseudogene 444 17 17 64263861 64263966 + 66267743 66267848 + 100873690 ABBA01029032;AC006120;AMYH02033815;NG_033652 RN5S444 APPROVED pseudo HGNC:43344 INFERRED 6481628 RNA5SP447 RNA, 5S ribosomal pseudogene 447 17 17 65264226 65264344 + 67268110 67268228 + 100873693 ABBA01029007;AC007448;AMYH02033838;NG_033658 RN5S447 APPROVED pseudo HGNC:43347 INFERRED 6481626 RNA5SP449 RNA, 5S ribosomal pseudogene 449 18 18 9844714 9844843 - 9844717 9844846 - 100873694 ABBA01049957;AC006238;AMYH02034293;NG_033660 RN5S449 APPROVED pseudo HGNC:43349 INFERRED 6482079 RNA5SP45 RNA, 5S ribosomal pseudogene 45 1 1 41932608 41932699 - 41466937 41467028 - 100873284 ABBA01023147;AL445933;AMYH02000869;NG_033371 RN5S45 APPROVED pseudo HGNC:42821 INFERRED 6481627 RNA5SP450 RNA, 5S ribosomal pseudogene 450 18 18 9923917 9924018 + 9923920 9924021 + 100873695 ABBA01049960;AC006238;AMYH02034293;NG_033662 RN5S450 APPROVED pseudo HGNC:43350 INFERRED 6481640 RNA5SP453 RNA, 5S ribosomal pseudogene 453 100873698 AC011825;NG_033668 RN5S453 APPROVED pseudo HGNC:43353 INFERRED 6481633 RNA5SP454 RNA, 5S ribosomal pseudogene 454 18 18 39850554 39850680 + 42270589 42270715 + 100873699 ABBA01022367;AC021735;AMYH02034611;NG_033670 RN5S454 APPROVED pseudo HGNC:43354 INFERRED 6481639 RNA5SP457 RNA, 5S ribosomal pseudogene 457 18 18 47472636 47472759 - 49946266 49946389 - 100873702 ABBA01018665;AC092705;AMYH02034701;NG_033676 RN5S457 APPROVED pseudo HGNC:43357 INFERRED 6481630 RNA5SP451 RNA, 5S ribosomal pseudogene 451 18 18 19508946 19509055 - 21928985 21929094 - 100873696 ABBA01022669;AC103987;AMYH02034389;NG_033664 RN5S451 APPROVED pseudo HGNC:43351 INFERRED 6481632 RNA5SP455 RNA, 5S ribosomal pseudogene 455 18 18 41651548 41651666 + 44071583 44071701 + 100873700 ABBA01022346;AC024301;AMYH02034627;NG_033672 RN5S455 APPROVED pseudo HGNC:43355 INFERRED 6481635 RNA5SP456 RNA, 5S ribosomal pseudogene 456 18 18 46001858 46001971 - 48475487 48475600 - 100873701 ABBA01018636;AC024288;AMYH02034681;NG_033674 RN5S456 APPROVED pseudo HGNC:43356 INFERRED 6481631 RNA5SP446 RNA, 5S ribosomal pseudogene 446 100873692 AC005988;NG_033656 RN5S446 APPROVED pseudo HGNC:43346 INFERRED 6481636 RNA5SP452 RNA, 5S ribosomal pseudogene 452 18 18 21750469 21750587 - 24170505 24170623 - 100873697 ABBA01022619;AC090772;AMYH02034430;NG_033666 RN5S452 APPROVED pseudo HGNC:43352 INFERRED 6481634 RNA5SP459 RNA, 5S ribosomal pseudogene 459 18 18 52813777 52813876 - 55146546 55146645 - 100873703 ABBA01056110;AC091103;AMYH02034771;NG_033678 RN5S459 APPROVED pseudo HGNC:43359 INFERRED 6482087 RNA5SP46 RNA, 5S ribosomal pseudogene 46 1 1 43662088 43662207 + 43196417 43196536 + 100873285 ABBA01050962;AC093420;AMYH02000895;NG_033373 RN5S46 APPROVED pseudo HGNC:42822 INFERRED 6481637 RNA5SP460 RNA, 5S ribosomal pseudogene 460 18 18 70419187 70419286 + 72751952 72752051 + 100873704 ABBA01056310;AC023301;AMYH02034977;NG_033680 RN5S460 APPROVED pseudo HGNC:43360 INFERRED 6481638 RNA5SP461 RNA, 5S ribosomal pseudogene 461 100873705 AC027510;NG_033682 RN5S461 APPROVED pseudo HGNC:43361 INFERRED 6481643 RNA5SP462 RNA, 5S ribosomal pseudogene 462 19 19 453134 453245 + 453134 453245 + 100873706 ABBA01002562;AC006124;AMYH02035108;NG_033684 RN5S462 APPROVED pseudo HGNC:43362 INFERRED 6481642 RNA5SP463 RNA, 5S ribosomal pseudogene 463 100873707 AC010336;NG_033686 RN5S463 APPROVED pseudo HGNC:43363 INFERRED 6481641 RNA5SP464 RNA, 5S ribosomal pseudogene 464 19 19 12107624 12107731 + 11996809 11996916 + 100873708 ABBA01029816;AC008770;AMYH02035540;NG_033688 RN5S464 APPROVED pseudo HGNC:43364 INFERRED 6481650 RNA5SP465 RNA, 5S ribosomal pseudogene 465 19 19 12138728 12138836 - 12027913 12028021 - 100873709 ABBA01029815;AC008770;AMYH02035540;NG_033690 RN5S465 APPROVED pseudo HGNC:43365 INFERRED 6481644 RNA5SP466 RNA, 5S ribosomal pseudogene 466 19 19 12180979 12181086 + 12070164 12070271 + 100873710 ABBA01029809;AC022415;AMYH02035543;NG_033692 RN5S466 APPROVED pseudo HGNC:43366 INFERRED 6481645 RNA5SP469 RNA, 5S ribosomal pseudogene 469 100873712 AC012627;NG_033696 RN5S469 APPROVED pseudo HGNC:43369 INFERRED 6481648 RNA5SP467 RNA, 5S ribosomal pseudogene 467 100873711 AC022415;NG_033694 RN5S467 APPROVED pseudo HGNC:43367 INFERRED 6481646 RNA5SP470 RNA, 5S ribosomal pseudogene 470 19 19 29492577 29492682 + 29001670 29001775 + 100873713 ABBA01039529;AC011505;AMYH02035868;NG_033698 RN5S470 APPROVED pseudo HGNC:43370 INFERRED 6482082 RNA5SP47 RNA, 5S ribosomal pseudogene 47 1 1 45397995 45398103 + 44932323 44932431 + 100873286 ABBA01050900;AL136380;AMYH02000919;NG_033375 RN5S47 APPROVED pseudo HGNC:42823 INFERRED 6481651 RNA5SP472 RNA, 5S ribosomal pseudogene 472 19 19 32734871 32734989 - 32243965 32244083 - 100873715 ABBA01039592;AC005340;AMYH02035914;NG_033702 RN5S472 APPROVED pseudo HGNC:43372 INFERRED 6481647 RNA5SP471 RNA, 5S ribosomal pseudogene 471 19 19 32146262 32146367 - 31655356 31655461 - 100873714 ABBA01039583;AC011546;AMYH02035908;NG_033700 RN5S471 APPROVED pseudo HGNC:43371 INFERRED 6481649 RNA5SP474 RNA, 5S ribosomal pseudogene 474 100873716 AL121890;NG_033704 RN5S474 APPROVED pseudo HGNC:43374 INFERRED 6481656 RNA5SP475 RNA, 5S ribosomal pseudogene 475 20 20 15261410 15261519 - 15280764 15280873 - 100873717 ABBA01053998;AL049633;AMYH02036745;NG_033706 RN5S475 APPROVED pseudo HGNC:43375 INFERRED 6481653 RNA5SP476 RNA, 5S ribosomal pseudogene 476 20 20 18414486 18414588 + 18433842 18433944 + 100873718 ABBA01054045;AL121893;AMYH02036779;NG_033708 RN5S476 APPROVED pseudo HGNC:43376 INFERRED 6481652 RNA5SP477 RNA, 5S ribosomal pseudogene 477 100873719 AL121759;NG_033710 RN5S477 APPROVED pseudo HGNC:43377 INFERRED 6481658 RNA5SP478 RNA, 5S ribosomal pseudogene 478 20 20 23141494 23141608 - 23160857 23160971 - 100873720 ABBA01016175;AL118508;AMYH02036832;NG_033712 RN5S478 APPROVED pseudo HGNC:43378 INFERRED 6481655 RNA5SP479 RNA, 5S ribosomal pseudogene 479 20 20 23361533 23361649 - 23380896 23381012 - 100873721 ABBA01016177;AL096677;AMYH02036833;NG_033714 RN5S479 APPROVED pseudo HGNC:43379 INFERRED 6481657 RNA5SP481 RNA, 5S ribosomal pseudogene 481 20 20 30596154 30596275 + 32008351 32008472 + 100873723 ABBA01019287;AL031658;AMYH02036912;NG_033718 RN5S481 APPROVED pseudo HGNC:43381 INFERRED 6482084 RNA5SP48 RNA, 5S ribosomal pseudogene 48 1 1 52439082 52439207 + 51973410 51973535 + 100873287 ABBA01074784;AL445685;AMYH02001006;NG_033377 RN5S48 APPROVED pseudo HGNC:42824 INFERRED 6481654 RNA5SP480 RNA, 5S ribosomal pseudogene 480 20 20 29944673 29944781 + 31356870 31356978 + 100873722 ABBA01019310;AL031650;AMYH02036892;NG_033716 RN5S480 APPROVED pseudo HGNC:43380 INFERRED 6481659 RNA5SP482 RNA, 5S ribosomal pseudogene 482 100873724 AL031658;AL353092 RN5S482 APPROVED pseudo HGNC:43382 6481666 RNA5SP483 RNA, 5S ribosomal pseudogene 483 20 20 33783109 33783226 + 35195306 35195423 + 100873725 ABBA01019167;AL121753;AMYH02036994;NG_033721 RN5S483 APPROVED pseudo HGNC:43383 INFERRED 6481664 RNA5SP484 RNA, 5S ribosomal pseudogene 484 20 20 39482759 39482869 - 40854119 40854229 - 100873726 ABBA01052565;AL050317;AMYH02037078;NG_033723 RN5S484 APPROVED pseudo HGNC:43384 INFERRED 6481663 RNA5SP486 RNA, 5S ribosomal pseudogene 486 20 20 46501935 46502017 + 47873191 47873273 + 100873728 ABBA01052710;AL121777;AMYH02037186;NG_033281 RN5S486 APPROVED pseudo HGNC:43386 INFERRED 6481662 RNA5SP485 RNA, 5S ribosomal pseudogene 485 20 20 44188397 44188515 - 45559758 45559876 - 100873727 ABBA01052660;AL031663;AMYH02037151;NG_033725 RN5S485 APPROVED pseudo HGNC:43385 INFERRED 6481661 RNA5SP487 RNA, 5S ribosomal pseudogene 487 20 20 54780108 54780229 - 56205052 56205173 - 100873729 ABBA01052889;AL139824;AMYH02037337;NG_033283 RN5S487 APPROVED pseudo HGNC:43387 INFERRED 6482089 RNA5SP49 RNA, 5S ribosomal pseudogene 49 1 1 63652007 63652121 - 63186336 63186450 - 100873288 ABBA01074576;AC096543;AMYH02001146;NG_033379 RN5S49 APPROVED pseudo HGNC:42825 INFERRED 6481660 RNA5SP488 RNA, 5S ribosomal pseudogene 488 21 21 15443192 15443307 + 14070871 14070986 + 100873730 ABBA01057078;AC246819;AP001347;NG_033285 RN5S488 APPROVED pseudo HGNC:43388 INFERRED 6481582 RNA5SP489 RNA, 5S ribosomal pseudogene 489 21 21 26574521 26574629 + 25202207 25202315 + 100873731 ABBA01057208;AMYH02037642;AP001341;NG_033287 RN5S489 APPROVED pseudo HGNC:43389 INFERRED 6481583 RNA5SP490 RNA, 5S ribosomal pseudogene 490 21 21 33935385 33935520 + 32563075 32563210 + 100873732 ABBA01057319;AMYH02037725;AP000274;NG_033289 RN5S490 APPROVED pseudo HGNC:43390 INFERRED 6481580 RNA5SP492 RNA, 5S ribosomal pseudogene 492 21 21 43641283 43641396 + 42221173 42221286 + 100873734 ABBA01014174;AMYH02037871;AP001622;NG_033293 RN5S492 APPROVED pseudo HGNC:43392 INFERRED 6481585 RNA5SP493 RNA, 5S ribosomal pseudogene 493 22 22 22146723 22146813 + 21792434 21792524 + 100873735 ABBA01055068;AMYH02038121;AP000555;NG_033295 RN5S493 APPROVED pseudo HGNC:43393 INFERRED 6481581 RNA5SP491 RNA, 5S ribosomal pseudogene 491 21 21 38224211 38224328 + 36851911 36852028 + 100873733 ABBA01057405;AMYH02037787;AP000700;NG_033291 RN5S491 APPROVED pseudo HGNC:43391 INFERRED 6481589 RNA5SP495 RNA, 5S ribosomal pseudogene 495 22 22 26786633 26786742 - 26390667 26390776 - 100873737 ABBA01055198;AL078460;AMYH02038165;NG_033299 RN5S495 APPROVED pseudo HGNC:43395 INFERRED 6481588 RNA5SP496 RNA, 5S ribosomal pseudogene 496 100873738 AC002073;NG_033301 RN5S496 APPROVED pseudo HGNC:43396 INFERRED 6481790 RNA5SP499 RNA, 5S ribosomal pseudogene 499 X X 9101869 9101987 + 9133828 9133946 + 100873550 ABBA01070691;AC119618;AMYH02038823;NG_033392 RN5S499 APPROVED pseudo HGNC:43399 INFERRED 6481591 RNA5SP497 RNA, 5S ribosomal pseudogene 497 22 22 33031088 33031184 - 32635102 32635198 - 100873739 ABBA01055381;AMYH02038268;NG_033303;Z75744 RN5S497 APPROVED pseudo HGNC:43397 INFERRED 6481584 RNA5SP494 RNA, 5S ribosomal pseudogene 494 22 22 26111008 26111136 - 25715041 25715169 - 100873736 ABBA01055181;AL022329;AMYH02038159;NG_033297 RN5S494 APPROVED pseudo HGNC:43394 INFERRED 6481796 RNA5SP500 RNA, 5S ribosomal pseudogene 500 X X 29000969 29001087 - 28982852 28982970 - 100873551 AC121344;AMYH02039089;NG_033394 RN5S500 APPROVED pseudo HGNC:43400 INFERRED 6481795 RNA5SP501 RNA, 5S ribosomal pseudogene 501 100873552 AC078957;NG_033396 RN5S501 APPROVED pseudo HGNC:43401 INFERRED 6481797 RNA5SP503 RNA, 5S ribosomal pseudogene 503 100873554 AL683817;NG_033400 RN5S503 APPROVED pseudo HGNC:43403 INFERRED 6481794 RNA5SP502 RNA, 5S ribosomal pseudogene 502 100873553 AL109797;NG_033398 RN5S502 APPROVED pseudo HGNC:43402 INFERRED 6481798 RNA5SP505 RNA, 5S ribosomal pseudogene 505 100873556 AL732374;NG_033404 RN5S505 APPROVED pseudo HGNC:43405 INFERRED 6481803 RNA5SP506 RNA, 5S ribosomal pseudogene 506 100873557 AL158069;NG_033406 RN5S506 APPROVED pseudo HGNC:43406 INFERRED 6481799 RNA5SP504 RNA, 5S ribosomal pseudogene 504 100873555 AL450023;NG_033402 RN5S504 APPROVED pseudo HGNC:43404 INFERRED 6481804 RNA5SP508 RNA, 5S ribosomal pseudogene 508 X X 75875410 75875528 - 76655009 76655127 - 100873559 ABBA01059311;AC239601;AMYH02039802;NG_033410;Z98255 RN5S508 APPROVED pseudo HGNC:43408 INFERRED 6481802 RNA5SP509 RNA, 5S ribosomal pseudogene 509 X X 76287130 76287248 + 77066709 77066827 + 100873560 ABBA01059268;AC240392;AL662914;AMYH02039806;NG_033412 RN5S509 APPROVED pseudo HGNC:43409 INFERRED 6481800 RNA5SP507 RNA, 5S ribosomal pseudogene 507 X X 69472892 69473012 + 70253042 70253162 + 100873558 ABBA01067549;AL357752;AMYH02039655;NG_033408 RN5S507 APPROVED pseudo HGNC:43407 INFERRED 6482086 RNA5SP51 RNA, 5S ribosomal pseudogene 51 100873289 AL359971;NG_033381 RN5S51 APPROVED pseudo HGNC:42828 INFERRED 6481809 RNA5SP511 RNA, 5S ribosomal pseudogene 511 100873562 NG_033416;Z75896 RN5S511 APPROVED pseudo HGNC:43411 INFERRED 6481806 RNA5SP512 RNA, 5S ribosomal pseudogene 512 100873563 AL096764;NG_033418 RN5S512 APPROVED pseudo HGNC:43412 INFERRED 6481801 RNA5SP510 RNA, 5S ribosomal pseudogene 510 X X 94837063 94837161 + 95582064 95582162 + 100873561 ABBA01064707;AL591342;AMYH02039997;NG_033414 RN5S510 APPROVED pseudo HGNC:43410 INFERRED 6481805 RNA5SP513 RNA, 5S ribosomal pseudogene 513 X X 128570507 128570624 - 129436530 129436647 - 100873564 ABBA01047797;AL022577;AMYH02040461;NG_033420 RN5S513 APPROVED pseudo HGNC:43413 INFERRED 6481811 RNA5SP514 RNA, 5S ribosomal pseudogene 514 X X 131072874 131072984 - 131938846 131938956 - 100873565 ABBA01042181;AL008629;AMYH02040498;NG_033422 RN5S514 APPROVED pseudo HGNC:43414 INFERRED 6481807 RNA5SP515 RNA, 5S ribosomal pseudogene 515 X X 134562093 134562210 - 135428168 135428285 - 100873566 ABBA01050068;AL450472;AMYH02040554;NG_033424 RN5S515 APPROVED pseudo HGNC:43415 INFERRED 6481810 RNA5SP517 RNA, 5S ribosomal pseudogene 517 100873568 AL109654;NG_033428 RN5S517 APPROVED pseudo HGNC:43417 INFERRED 6481808 RNA5SP516 RNA, 5S ribosomal pseudogene 516 100873567 AL109620;NG_033426 RN5S516 APPROVED pseudo HGNC:43416 INFERRED 6481817 RNA5SP518 RNA, 5S ribosomal pseudogene 518 Y Y 9928019 9928137 - 10090410 10090528 - 100873569 ABBA01031165;AC006987;NG_033430 RN5S518 APPROVED pseudo HGNC:43418 INFERRED 6481812 RNA5SP519 RNA, 5S ribosomal pseudogene 519 Y Y 9930484 9930602 - 10092875 10092993 - 100873570 ABBA01031165;AC006987;NG_033432 RN5S519 APPROVED pseudo HGNC:43419 INFERRED 6482085 RNA5SP52 RNA, 5S ribosomal pseudogene 52 100873290 AC104838;NG_033383 RN5S52 APPROVED pseudo HGNC:42829 INFERRED 6482091 RNA5SP54 RNA, 5S ribosomal pseudogene 54 1 1 111584456 111584547 + 111041834 111041925 + 100873292 ABBA01068395;AL360270;AMYH02001726;NG_033387 RN5S54 APPROVED pseudo HGNC:42831 INFERRED 6482088 RNA5SP53 RNA, 5S ribosomal pseudogene 53 100873291 AC095034;NG_033385 RN5S53 APPROVED pseudo HGNC:42830 INFERRED 6482093 RNA5SP56 RNA, 5S ribosomal pseudogene 56 1 1 118806995 118807112 - 118264372 118264489 - 100873294 ABBA01068506;AL391557;AMYH02001802;NG_033391 RN5S56 APPROVED pseudo HGNC:42833 INFERRED 6482090 RNA5SP55 RNA, 5S ribosomal pseudogene 55 1 1 117504969 117505093 - 116962347 116962471 - 100873293 ABBA01068497;AL445231;AMYH02001795;NG_033389 RN5S55 APPROVED pseudo HGNC:42832 INFERRED 6481983 RNA5SP61 RNA, 5S ribosomal pseudogene 61 1 1 162308433 162308532 + 162338643 162338742 + 100873296 ABBA01047307;AL512785;AMYH02002038;NG_033395 RN5S61 APPROVED pseudo HGNC:42838 INFERRED 6481981 RNA5SP60 RNA, 5S ribosomal pseudogene 60 1 1 159148263 159148349 + 159178473 159178559 + 100873295 ABBA01016620;AL035403;AMYH02002009;NG_033393 RN5S60 APPROVED pseudo HGNC:42837 INFERRED 6481985 RNA5SP64 RNA, 5S ribosomal pseudogene 64 1 1 166011481 166011587 + 166042244 166042350 + 100873299 ABBA01047269;AL606495;AMYH02002073;NG_033401 RN5S64 APPROVED pseudo HGNC:42841 INFERRED 6481984 RNA5SP62 RNA, 5S ribosomal pseudogene 62 1 1 163438286 163438395 - 163468496 163468605 - 100873297 ABBA01047298;AL513307;AMYH02002048;NG_033397 RN5S62 APPROVED pseudo HGNC:42839 INFERRED 6481987 RNA5SP63 RNA, 5S ribosomal pseudogene 63 1 1 163479274 163479385 + 163509484 163509595 + 100873298 ABBA01047297;AL513307;AMYH02002048;NG_033399 RN5S63 APPROVED pseudo HGNC:42840 INFERRED 6481986 RNA5SP66 RNA, 5S ribosomal pseudogene 66 100873301 ABBA01027956;AL031726;NG_033405 RN5S66 APPROVED pseudo HGNC:42843 INFERRED 6481989 RNA5SP65 RNA, 5S ribosomal pseudogene 65 100873300 AL158837;NG_033403 RN5S65 APPROVED pseudo HGNC:42842 INFERRED 6481990 RNA5SP67 RNA, 5S ribosomal pseudogene 67 100873302 AL136170;NG_033407 RN5S67 APPROVED pseudo HGNC:42844 INFERRED 6481988 RNA5SP68 RNA, 5S ribosomal pseudogene 68 1 1 173938456 173938574 - 173969318 173969436 - 100873303 ABBA01027893;AL136170;AMYH02002162;NG_033409 RN5S68 APPROVED pseudo HGNC:42845 INFERRED 6481994 RNA5SP71 RNA, 5S ribosomal pseudogene 71 100873305 AL450304;NG_033413 RN5S71 APPROVED pseudo HGNC:42848 INFERRED 6481992 RNA5SP69 RNA, 5S ribosomal pseudogene 69 1 1 178530048 178530164 + 178560913 178561029 + 100873304 ABBA01027834;AL513013;AMYH02002219;NG_033411 RN5S69 APPROVED pseudo HGNC:42846 INFERRED 6481991 RNA5SP72 RNA, 5S ribosomal pseudogene 72 1 1 184984083 184984199 - 185014951 185015067 - 100873306 ABBA01027726;AL109865;AMYH02002304;NG_033415 RN5S72 APPROVED pseudo HGNC:42849 INFERRED 6481995 RNA5SP75 RNA, 5S ribosomal pseudogene 75 1 1 204676448 204676558 - 204707320 204707430 - 100873309 ABBA01027438;AL161793;AMYH02002539;NG_033421 RN5S75 APPROVED pseudo HGNC:42852 INFERRED 6481993 RNA5SP74 RNA, 5S ribosomal pseudogene 74 1 1 204531541 204531649 - 204562413 204562521 - 100873308 ABBA01027439;AL512306;AMYH02002537;NG_033419 RN5S74 APPROVED pseudo HGNC:42851 INFERRED 6481996 RNA5SP73 RNA, 5S ribosomal pseudogene 73 1 1 189635279 189635386 - 189666149 189666256 - 100873307 ABBA01027675;AL136371;AMYH02002346;NG_033417 RN5S73 APPROVED pseudo HGNC:42850 INFERRED 6481997 RNA5SP76 RNA, 5S ribosomal pseudogene 76 1 1 219935131 219935217 + 219761789 219761875 + 100873310 ABBA01048090;AC096643;AMYH02002727;NG_033423 RN5S76 APPROVED pseudo HGNC:42853 INFERRED 6481998 RNA5SP77 RNA, 5S ribosomal pseudogene 77 1 1 227748882 227749001 + 227561181 227561300 + 100873311 ABBA01009611;AL451054;AMYH02002829;NG_033425 RN5S77 APPROVED pseudo HGNC:42854 INFERRED 6481999 RNA5SP78 RNA, 5S ribosomal pseudogene 78 1 1 229685652 229685769 + 229549905 229550022 + 100873312 ABBA01009825;AL121990;AMYH02002872;NG_033427 RN5S78 APPROVED pseudo HGNC:42855 INFERRED 6482001 RNA5SP80 RNA, 5S ribosomal pseudogene 80 1 1 231417160 231417270 - 231281414 231281524 - 100873314 ABBA01033036;AL117352;AMYH02002889;NG_033431 RN5S80 APPROVED pseudo HGNC:42857 INFERRED 6482004 RNA5SP86 RNA, 5S ribosomal pseudogene 86 2 2 20601388 20601485 - 20401627 20401724 - 100873319 ABBA01018474;AC007041;AMYH02003369;NG_033441 RN5S86 APPROVED pseudo HGNC:42884 INFERRED 6482007 RNA5SP81 RNA, 5S ribosomal pseudogene 81 1 1 242297574 242297683 + 242134272 242134381 + 100873315 ABBA01033273;AL591686;AMYH02003046;NG_033433 RN5S81 APPROVED pseudo HGNC:42858 INFERRED 6482000 RNA5SP79 RNA, 5S ribosomal pseudogene 79 1 1 230955996 230956104 + 230820250 230820358 + 100873313 ABBA01033029;AL118511;AMYH02002883;NG_033429 RN5S79 APPROVED pseudo HGNC:42856 INFERRED 6482002 RNA5SP82 RNA, 5S ribosomal pseudogene 82 1 1 247367872 247367963 - 247204570 247204661 - 100873316 ABBA01031782;AL390728;AMYH02003132;NG_033435 RN5S82 APPROVED pseudo HGNC:42859 INFERRED 6482003 RNA5SP84 RNA, 5S ribosomal pseudogene 84 2 2 11657523 11657629 + 11517397 11517503 + 100873317 ABBA01015651;AC011994;AMYH02003291;NG_033437 RN5S84 APPROVED pseudo HGNC:42882 INFERRED 6482006 RNA5SP85 RNA, 5S ribosomal pseudogene 85 2 2 11701787 11701905 - 11561661 11561779 - 100873318 ABBA01015652;AC011994;AMYH02003291;NG_033439 RN5S85 APPROVED pseudo HGNC:42883 INFERRED 6482005 RNA5SP87 RNA, 5S ribosomal pseudogene 87 2 2 22561758 22561875 - 22338886 22339003 - 100873320 ABBA01045087;AC096570;AMYH02003390;NG_033443 RN5S87 APPROVED pseudo HGNC:42885 INFERRED 6482008 RNA5SP88 RNA, 5S ribosomal pseudogene 88 2 2 24787499 24787607 - 24564630 24564738 - 100873321 ABBA01045118;AC093798;AMYH02003420;NG_033446 RN5S88 APPROVED pseudo HGNC:42886 INFERRED 6482010 RNA5SP89 RNA, 5S ribosomal pseudogene 89 2 2 28906842 28906949 + 28683976 28684083 + 100873322 ABBA01045237;AC074011;AMYH02003496;NG_033448 RN5S89 APPROVED pseudo HGNC:42887 INFERRED 6482014 RNA5SP92 RNA, 5S ribosomal pseudogene 92 2 2 33557965 33558074 + 33332898 33333007 + 100873325 ABBA01074906;AC019127;AMYH02003565;NG_033454 RN5S92 APPROVED pseudo HGNC:42890 INFERRED 6482016 RNA5SP91 RNA, 5S ribosomal pseudogene 91 2 2 33510836 33510954 - 33285769 33285887 - 100873324 ABBA01074906;AC019127;AMYH02003565;NG_033452 RN5S91 APPROVED pseudo HGNC:42889 INFERRED 6482015 RNA5SP94 RNA, 5S ribosomal pseudogene 94 2 2 59921897 59922004 + 59694762 59694869 + 100873327 ABBA01075316;AC007100;AMYH02003900;NG_033458 RN5S94 APPROVED pseudo HGNC:42892 INFERRED 6482009 RNA5SP90 RNA, 5S ribosomal pseudogene 90 2 2 31451178 31451276 + 31228312 31228410 + 100873323 ABBA01074852;AC015980;AMYH02003524;NG_033450 RN5S90 APPROVED pseudo HGNC:42888 INFERRED 6482011 RNA5SP93 RNA, 5S ribosomal pseudogene 93 2 2 56462352 56462465 - 56235217 56235330 - 100873326 ABBA01075280;AC007743;AMYH02003865;NG_033456 RN5S93 APPROVED pseudo HGNC:42891 INFERRED 6482013 RNA5SP95 RNA, 5S ribosomal pseudogene 95 2 2 61225887 61226023 + 60998752 60998888 + 100873328 ABBA01075341;AC010733;AMYH02003916;NG_033460 RN5S95 APPROVED pseudo HGNC:42893 INFERRED 6482017 RNA5SP96 RNA, 5S ribosomal pseudogene 96 2 2 69409029 69409135 - 69181897 69182003 - 100873329 ABBA01075493;AC112230;AMYH02004016;NG_033462 RN5S96 APPROVED pseudo HGNC:42894 INFERRED 6482012 RNA5SP97 RNA, 5S ribosomal pseudogene 97 2 2 74195250 74195333 - 73968123 73968206 - 100873330 ABBA01075593;AC073046;AMYH02004084;NG_033464 RN5S97 APPROVED pseudo HGNC:42895 INFERRED 6482021 RNA5SP98 RNA, 5S ribosomal pseudogene 98 100873331 AC068048;NG_033466 RN5S98 APPROVED pseudo HGNC:42896 INFERRED 1347818 RNASE10 ribonuclease, RNase A family, 10 (non-active) ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN heterotypic cell-cell adhesion (ortholog); positive regulation of cell-cell adhesion (ortholog); positive regulation of sperm motility (ortholog); FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; furan (ortholog); paracetamol (ortholog) 14 14 14 q11.2 839505 840155 + 20973696 20979314 + 20505537 20511155 + 6480464 12477932;12920233;15676279;24337645 338879 Q5GAN6;W0UTC4 ABBA01061230;AK296766;AL355075;AMYH02028824;AY665805;BC133002;BC133028;CH471078;HG328844;NM_001012975;XM_005267584 AAI33003;AAI33029;AAV87183;BAG59346;CDG31920;EAW66457;NP_001012993;Q5GAN6;XP_005267641 Hs.451057 1717031;5020274 L18441;RH124078 RAH1;RNASE9 OTTHUMP00000244810;inactive ribonuclease-like protein 10;ribonuclease 10;ribonuclease A H1;ribonuclease-like protein 10 protein-coding ENSG00000182545 HGNC:19275 18495 VALIDATED 1602837 RNASE11 ribonuclease, RNase A family, 11 (non-active) ENCODES a protein that exhibits endonuclease activity (inferred); nucleic acid binding (inferred); INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); C60 fullerene (ortholog) 14 14 14 q11.2 911926 919293 - 21051051 21078037 - 20582892 20590258 - 6480464 12477932;12975309;14702039;15489334;15676279;21832049;22505724;24337645 122651 C9JHH6;C9JYR4;G3V3W8;G3V5L6;Q5GAN5;Q8TAA1 ABBA01061232;ABBA01061233;AI809974;AK098687;AK292348;AK314065;AL163195;AMYH02028825;AY358794;AY665806;BC025410;BX161458;CB995247;CH471078;CS072280;FJ237361;HC007256;HC044637;HG328846;NM_145250 AAH25410;AAQ89154;AAV87184;ACI49694;BAC05378;BAF85037;BAG36768;CAD61920;CAI93418;CBH19433;CBH30648;CDG31922;EAW66455;EAW66456;NP_660293;Q8TAA1 Hs.112761 1680771;1700166 RH103696;RH93852 C14orf6;HEL-S-84p;RAJ1 OTTHUMP00000028263;OTTHUMP00000164012;OTTHUMP00000164013;OTTHUMP00000164014;OTTHUMP00000164016;RNase 11;epididymis secretory sperm binding protein Li 84p;probable ribonuclease 11;ribonuclease 11;ribonuclease A J1 protein-coding ENSG00000259060 HGNC:19269 15257 VALIDATED 1344390 RNASE13 ribonuclease, RNase A family, 13 (non-active) ENCODES a protein that exhibits nucleic acid binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); thioacetamide (ortholog) 14 14 14 q11.1 1361842 1363807 - 21500979 21502944 - 21032820 21034785 - 6480464 12477932;15676279;24337645 440163 Q5GAN3;V9HW52 ABBA01061239;AL161668;AMYH02028827;AY665808;BC044831;FJ237363;HG328848;NM_001012264 AAH44831;AAV87186;ACI49696;CDG31924;NP_001012264;Q5GAN3 Hs.666729 HEL-S-86p;RAL1 OTTHUMP00000245139;epididymis secretory sperm binding protein Li 86p;probable inactive ribonuclease-like protein 13;ribonuclease 13;ribonuclease A L1;ribonuclease-like protein 13 protein-coding ENSG00000206150 HGNC:25285 17980 VALIDATED 1353641 RNASE12 ribonuclease, RNase A family, 12 (non-active) ENCODES a protein that exhibits nucleic acid binding (inferred); FOUND IN extracellular region (inferred) 14 14 14 q11.1 919115 919858 - 21058239 21059532 - 20590080 20590823 - 12477932;15676279;24337645 493901 Q5GAN4;W0UV30 ABBA01061233;AL163195;AMYH02028825;AW274139;AY665807;BC130347;BC130349;FJ237362;HG328845;NM_001024822 AAI30348;AAI30350;AAV87185;ACI49695;ADR82836;CDG31921;NP_001019993;Q5GAN4 Hs.729466 HEL-S-85p;RAI1 OTTHUMP00000244826;epididymis secretory sperm binding protein Li 85p;probable inactive ribonuclease-like protein 12;ribonuclease A I1;ribonuclease-like protein 12 protein-coding ENSG00000258436 HGNC:24211 18667 VALIDATED 1352667 RNASE3 ribonuclease, RNase A family, 3 ENCODES a protein that exhibits endonuclease activity (inferred); nucleic acid binding (inferred); ribonuclease activity (inferred); INVOLVED IN antibacterial humoral response; defense response to Gram-positive bacterium; innate immune response in mucosa; PARTICIPATES IN asthma disease pathway; FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH 2-(hydroxymethyl)-4-(1-hydroxy-2-\{[6-(4-phenylbutoxy)hexyl]amino\}ethyl)phenol; beclomethasone; budesonide 14 14 14 q11.2 1220428 1221373 + 21359562 21360507 + 20891403 20892348 + 1580863;6480464;6907045 10336457;10606511;10706854;10903870;11034418;11102386;11404391;11552948;11959927;12100059;12356310;12477932;12524255;12530121;12860195;12974194;14630983;1464733;15007353;15295703;15317478;15489334;1577491;15928844;16010966;16014847;16874959;16879306;16883790;17088327;17223693;17250693;17362255;17507019;17573858;17587163;17675527;17726151;17804567;17852809;17885861;17927842;17944807;18087674;18293932;18345486;18593710;18657051;18716399;19014520;19086659;19133919;19189375;19284504;19366593;19450231;19476022;19521893;19542456;19566743;19639743;19692640;19717523;19760211;20089176;20170318;20213669;20307883;20523065;20534163;20951760;21038779;21183182;21303303;21666788;21878071;21962901;22145905;22216286;22289536;22579681;22845717;22845733;23135272;23197886;23406588;23430080;23484086;23517396;23597768;23710948;23786280;23841472;2387583;24383969;2473157;24738159;2501794;2745977;3458170;3520144 6037 P12724 ABBA01061237;AF294019;AF294020;AF294021;AF294022;AF294023;AF294024;AF294025;AF294026;AF441204;AF441205;AF441206;AL133371;AMYH02028826;BC096060;BC096061;BC096062;BX280390;CH471078;M28128;NM_002935;X15161;X16545;X55990 AAA50283;AAG31589;AAG31590;AAG31591;AAG31592;AAG31593;AAG31594;AAG31595;AAG31596;AAH96060;AAH96061;AAH96062;AAL35279;AAL35280;AAL35281;CAA33251;CAA34545;CAA39462;EAW66436;NP_002926;P12724 Hs.73839 5015354;5023397;5492819;5493527 D14S1192;D14S1288;UniSTS:482837;UniSTS:487018 ECP;RNS3 OTTHUMP00000164017;RNase 3;cytotoxic ribonuclease;eosinophil cationic protein;ribonuclease 3 APPROVED protein-coding ENSG00000169397 HGNC:10046 00575 131398 VALIDATED 1349318 RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) ENCODES a protein that exhibits nucleic acid binding (inferred); pancreatic ribonuclease activity (inferred); ribonuclease activity (inferred); INVOLVED IN chemotaxis; FOUND IN extracellular vesicular exosome; INTERACTS WITH 2-(hydroxymethyl)-4-(1-hydroxy-2-\{[6-(4-phenylbutoxy)hexyl]amino\}ethyl)phenol; all-trans-retinoic acid; arsenous acid 14 14 14 q11.2 1284485 1285449 + 21423630 21424594 + 20955471 20956435 + 1580863;6480464 10741866;11102386;11154698;11282395;11311552;11876642;11916383;11959927;12477932;12578357;12606041;12855582;1464733;15161933;15356558;15489334;15528350;15755456;1577491;1587793;16014847;16428483;17351112;17641730;17927842;17965582;18195069;18636464;19014520;19115260;19717523;20570966;21666788;21680952;23053729;23533305;2387583;24337645;2591744;2734298;2745977;3166997;3182786;3458170;3926759;7547911;7947762;8471426;8759319;9450956;9620664 6036 P10153;W0UV60 ABBA01061237;AF294007;AF294008;AF294009;AF294010;AF294011;AF294012;AF294013;AF294014;AF294015;AJ408458;AL355922;AMYH02028826;BC093678;BC093680;BC096059;CH471078;HG328843;M24157;M28129;M30510;NM_002934;X16546;X55987;X55988 AAA50284;AAA52337;AAC82505;AAG31577;AAG31578;AAG31579;AAG31580;AAG31581;AAG31582;AAG31583;AAG31584;AAG31585;AAH93678;AAH93680;AAH96059;CAA34546;CAA39459;CAA39460;CAC27640;CDG31919;EAW66435;NP_002925;P10153 Hs.728 1767483;5015354;5023397;5492819;5493527 D14S1192;D14S1288;RH69113;UniSTS:482837;UniSTS:487018 ECP;EDN;RAF3;RNS2 OTTHUMP00000028293;RNase 2;RNase UpI-2;eosinophil-derived neurotoxin;non-secretory ribonuclease;ribonuclease 2;ribonuclease A F3;ribonuclease US protein-coding ENSG00000169385 HGNC:10045 00577 131410 VALIDATED 736007 RNASE4 ribonuclease, RNase A family, 4 The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3' side of uridine nucleotides. Alternative splicing results in four transcript variants encoding the same protein. This gene and the gene that encodes angiogenin share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Aug 2013] 14 14 14 q11 1013244 1029632 + 21152259 21168761 + 20684213 20700602 + 1580863;6480464;8554872 11752456;12477932;14702039;15489334;16344560;20532202;23143660;24163370;24337645;24659782;3467790;7501448;7742370;8223579;9366257;9878400 6038 P34096;Q53XB4 ABBA01061234;AK092422;AL163636;AMYH02028826;BC015520;BG616902;BU594423;BX247985;BX248010;CA447209;CB051790;CH471078;D37931;DA925725;DR003809;HG328836;NG_008717;NG_033053;NM_001282192;NM_001282193;NM_002937;NM_194431;U36775 AAA96750;AAH15520;BAA07150;BAG52550;CAD62319;CAD62338;CDG31912;EAW66448;NP_001269121;NP_001269122;NP_002928;NP_919412;P34096 Hs.283749 1668881;1741145;1778575;1797174;1854290;2127676;2150507;2150509;2172847;2176438;2185370;5021407;5093106 A006H30;A009G09;D14S1204;D14S1338;G20814;G32523;G36057;GDB:178381;RH1630;RH68464;RH78342;RNASE4;SHGC-35580 MGC9306;RAB1;RNS4 OTTHUMP00000164022;OTTHUMP00000164023;OTTHUMP00000164024;OTTHUMP00000244878;RNase 4;ribonuclease 4;ribonuclease A B1 APPROVED protein-coding ENSG00000258818 HGNC:10047 03018 601030 REVIEWED 1353772 RNASE6 ribonuclease, RNase A family, k6 ENCODES a protein that exhibits endonuclease activity (inferred); nucleic acid binding (inferred); ribonuclease activity (inferred); INVOLVED IN defense response (inferred); RNA catabolic process (inferred); RNA phosphodiester bond hydrolysis (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH acetylsalicylic acid; arsenite(3-); disodium selenite 14 14 14 q11.2 1110074 1111490 + 21249210 21250626 + 20781051 20782467 + 1580863;6480464 12477932;15489334;15676279;16169070;17207965;23383108;24337645;8836175;9647635 6039 Q6IB39;Q93091 ABBA01061235;AI151384;AK313580;AL133371;AMYH02028826;BC020848;CH471078;CR456965;HG328838;NM_005615;U64998 AAC51848;AAH20848;ADQ32201;BAG36350;CAG33246;CDG31914;EAW66440;EAW66441;EAW66442;NP_005606;Q93091 Hs.23262 1652224;1656174;2167847 D14S1291;G35567;G36118 RAD1;RNS6;RNasek6 OTTHUMP00000028283;ribonuclease A D1;ribonuclease K6 protein-coding ENSG00000169413 HGNC:10048 03581 601981 VALIDATED 1344446 RNASE7 ribonuclease, RNase A family, 7 RNASE7 is a member of the RNase A superfamily that has broad-spectrum antimicrobial activity and ribonuclease activity (Harder and Schroder, 2002 [PubMed 12244054]; Zhang et al., 2003 [PubMed 12527768]).[supplied by OMIM, Dec 2008] 14 14 14 q11.2 1371249 1373256 + 21510385 21512393 + 21042226 21044234 + 1580863;6480464 12244054;12477932;12527768;12975309;15489334;15676279;16344560;19262607;19366593;19641608;19919305;20668470;21139048;23302724;23469087;23545750;23555696;23614747 84659 Q9H1E1 ABBA01061239;AI150610;AJ131212;AJ306608;AJ306609;AJ306610;AK292697;AL161668;AMYH02028827;AY170392;AY359097;BC074960;BC112334;CH471078;DB153740;NM_032572;XR_245728 AAH74960;AAI12335;AAO12510;AAQ89455;BAF85386;CAC20410;CAC84457;CAC84458;CAC84462;EAW66418;EAW66419;NP_115961;Q9H1E1 Hs.525206 1791300;2220406;2220434 PMC101240P1;UniSTS:481510;UniSTS:482103 MGC133220;RNase 7;SAP-2 OTTHUMP00000195134;ribonuclease 7;skin-derived antimicrobial protein 2 APPROVED protein-coding ENSG00000165799 HGNC:19278 17981 612484 VALIDATED 7377997 RNASEH1-AS1 RNASEH1 antisense RNA 1 2 2 p25 3605976 3609340 + 3558386 3561750 + 14702039 100506054 ABBA01006103;AC108488;AK023018;AMYH02003194;BC019594;BC040057;HG493509;HG493510;NR_038429;NR_038430;NR_038431 Hs.606550 AC108488.3 ncrna ENSG00000234171 HGNC:49289 VALIDATED 1604714 RNASEH1P1 ribonuclease H1 pseudogene 1 17 17 17 p11.2 21735817 21736617 + 20805289 20806089 - 20901976 20902776 - 11856317;12036296;21145461;9799596 284203 ABBA01050452;AC090774;AMYH02033192;NG_004111 RNASEH1;RNASEH1P;RNH1 pseudo HGNC:10049 INFERRED 1345490 RNASEH1P2 ribonuclease H1 pseudogene 2 17 17 17 p11.2 16489608 16490436 + 16586716 16587544 + 16683402 16684230 + 12036296 390766 ABBA01035647;AC098850;AMYH02033081;NG_004110 pseudo HGNC:18715 INFERRED 1352107 RNASEH1P3 ribonuclease H1 pseudogene 3 1 1 1 q32.2 183700404 183701546 + 210477021 210478163 + 210303676 210304818 + 12036296 199827 ABBA01048202;AL035414;AMYH02002605;NG_001567 pseudo HGNC:18716 INFERRED 6481090 RNASEH2B-AS1 RNASEH2B antisense RNA 1 13 13 51456514 51484848 - 50882378 50910712 - 100874255 ABBA01051041;AL137881;AMYH02028027;AMYH02028028;BF574759;HG505637;HG505638;NR_046552 Hs.741501 RP11-40A8.3 APPROVED ncrna HGNC:39967 PREDICTED 1316328 RNASEH2A ribonuclease H2, subunit A The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009] 19 19 19 p13.2 12807135 12814169 + 12912863 12924462 + 12804303 12813648 + 1580863;6480464;6907045;7240710;8554872;8699517 12477932;15489334;16845400;17623298;17846997;19015152;19139135;20301334;20301648;21139048;21454563;21890473;21906983;21963094;21987572;22505724;22863883;22939629;23592335;24501781;8889548;9789007 10535 O75792;Q6UQL6 ABBA01029772;AC020934;AK315327;AMYH02035557;AY363912;BC011748;BE560339;BG825340;BM664190;CB240995;CH471106;CR456841;KF456503;NG_012662;NM_006397;XM_006722619;Z97029 AAH11748;AAQ64005;BAG37728;CAB09725;CAG33122;EAW84313;NP_006388;O75792;XP_006722682 Hs.532851 2158842 RH15924 AGS4;JUNB;RNHL RNASEHI;RNHIA;RNase H(35);RNase H2 subunit A;RNase HI large subunit;aicardi-Goutieres syndrome 4 protein;ribonuclease H2 subunit A;ribonuclease H2, large subunit;ribonuclease HI large subunit;ribonuclease HI subunit A;ribonuclease HI, large subunit APPROVED protein-coding ENSG00000104889 HGNC:18518 06914 606034;610333 REVIEWED 1606240 RNASEH2B ribonuclease H2, subunit B RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008] 13 13 13 q14.3 32532888 32593597 + 51483814 51544596 + 50909678 50970460 + 6480464;6907045;7240710;8554872;8699517 12477932;14702039;15057823;15489334;15908569;16344560;16845400;17213182;18029348;18422679;19015152;19120481;20301334;20301648;21139048;21862834;21890473;22863883;22882256;22939629;24501781;24816145;8125298 79621 Q5TBB1;Q8N451 ABBA01051041;AK021774;AK022667;AK124228;AK223340;AL137881;AMYH02028028;AY764036;BC001397;BC005088;BC007332;BC010174;BC036744;BI837927;BX328027;BX330672;BX382357;CA309004;CH471075;DB221997;DT216141;NG_009055;NM_001142279;NM_024570;XM_005266524;XM_005266525;XM_006719867 AAH01397;AAH05088;AAH07332;AAH10174;AAH36744;AAX13343;ADZ15721;BAB13892;BAD97060;EAX08863;EAX08864;NP_001135751;NP_078846;Q5TBB1;XP_005266581;XP_005266582;XP_006719930 Hs.306291 1686032;1761943;1761945;2152322;2163414;2180207 RH93578;SHGC-145876;SHGC-145878;STS-N22307;STS-R68581;WI-11665 AGS2;DLEU8;FLJ11712 Aicardi-Goutieres syndrome 2 protein;OTTHUMP00000018436;RNase H2 subunit B;deleted in leukemia 8 protein;deleted in lymphocytic leukemia 8;ribonuclease H2 subunit B;ribonuclease HI subunit B APPROVED protein-coding ENSG00000136104 HGNC:25671 610181;610326 REVIEWED 1353668 RNASE8 ribonuclease, RNase A family, 8 ENCODES a protein that exhibits pancreatic ribonuclease activity; INVOLVED IN RNA phosphodiester bond hydrolysis, endonucleolytic; FOUND IN extracellular region (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; 2-butoxyethanol (ortholog); benzo[a]pyrene (ortholog) 14 14 14 q11.2 1386941 1387405 + 21526052 21526516 + 21057893 21058357 + 1580863;6480464 11861908;12477932;17116644;22272736 122665 Q8TDE3 ABBA01061239;AF473854;AL161668;AMYH02028827;BC137537;BC137538;CH471078;NM_138331 AAI37538;AAI37539;AAL89644;EAW66417;NP_612204;Q8TDE3 Hs.553572 2219638;2220526 RNASE8__5509;UniSTS:484106 OTTHUMP00000164403;RNase 8, placental;ribonuclease 8 protein-coding HGNC:19277 17982 612485 PROVISIONAL 1343484 RNASE9 ribonuclease, RNase A family, 9 (non-active) ENCODES a protein that exhibits nucleic acid binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; Aroclor 1254 (ortholog); silicon dioxide (ortholog) 14 14 14 q11.2 885131 889969 - 21024252 21029125 - 20556093 20560966 - 6480464 12477932;12508121;12920233;15676279;15974301;18992174;22219177;24337645 390443 P60153;W0UV99 ABBA01061232;AF382949;AL163195;AMYH02028825;AY665804;AY907670;BC130311;BC130313;EF061296;EF061297;EF061298;EF061299;EF061300;EF061301;EF061302;EF061303;EF061304;EU414264;HG328847;NM_001001673;NM_001110356;NM_001110357;NM_001110358;NM_001110359;NM_001110360;NM_001110361;NM_001289110;XM_006720142 AAI30312;AAI30314;AAQ02792;AAV87182;AAX86045;ABP97451;ABP97452;ABP97453;ABP97454;ABP97455;ABP97456;ABP97457;ABP97458;ABP97459;ACA49544;ADR83498;CDG31923;NP_001001673;NP_001103826;NP_001103827;NP_001103828;NP_001103829;NP_001103830;NP_001103831;NP_001276039;P60153;XP_006720205 Hs.533972 2107787 h461__7562 HEL128;RAK1;h461 OTTHUMP00000244811;OTTHUMP00000244812;OTTHUMP00000244813;OTTHUMP00000244815;OTTHUMP00000244816;OTTHUMP00000244817;OTTHUMP00000244818;OTTHUMP00000244819;OTTHUMP00000244820;inactive ribonuclease-like protein 9;ribonuclear enzyme;ribonuclease 9;ribonuclease A K1;ribonuclease-like protein 9 protein-coding ENSG00000188655 HGNC:20673 17983 614014 VALIDATED 1320822 RNASE1 ribonuclease, RNase A family, 1 (pancreatic) This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1130381 1131902 - 21269515 21271036 - 20801356 20802877 - 1580863;6480464 10632727;11021969;11264578;11342552;11412105;11591351;11848924;12022038;12210760;12237131;12477932;12626415;12939146;15489334;15528350;1587793;16054567;16114055;16597833;16738129;16751256;16780873;17109515;17224235;17234723;17350650;1741299;17627168;17705507;18029348;18219569;18495155;19156888;20352290;2049798;21103661;21408145;21767499;21988832;22190034;23135272;23251661;23383108;2383019;24100329;24337645;3202829;6201087;7492594;7649283;8049276;8280059;8588814;9311977 6035 G3V357;P07998;W0UV93 ABBA01061235;AI400223;AK098375;AK129871;AK312100;AL133371;AMYH02028826;AV710596;BC005324;BC022882;BF106121;BG539567;BI599530;BI753463;BI760598;BM007311;BM919747;BP385178;CB993343;CD703706;CH471078;CR450318;DQ494867;HG328837;NM_002933;NM_198232;NM_198234;NM_198235;S79281;X62946;X79235 AAB35096;AAH05324;AAH22882;ABF00144;BAG35036;CAA44718;CAA55817;CAG29314;CDG31913;EAW66437;EAW66438;NP_002924;NP_937875;NP_937877;NP_937878;P07998 Hs.78224 1672070 D14S1332 MGC12408;RAC1;RIB-1;RIB1;RNS1 HP-RNase;OTTHUMP00000028291;OTTHUMP00000164025;OTTHUMP00000244934;OTTHUMP00000244935;OTTHUMP00000244936;RNase 1;RNase A;RNase upI-1;ribonuclease 1;ribonuclease A;ribonuclease A C1;ribonuclease pancreatic APPROVED protein-coding ENSG00000129538 HGNC:10044 01591 180440 REVIEWED 1604574 RNASEH2C ribonuclease H2, subunit C This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 62812157 62815292 - 65485144 65488409 - 65717673 65720938 - 6480464;6907045;7240710;8554872;8699517 12477932;14702039;15489334;16845400;17846997;19015152;20301334;20301648;20383146;21139048;21890473;21906983;21963094;21987572;22939629;24501781;8125298;8244390 84153 E9PKP0;E9PN81;H0YCP5;H0YE52;H0YEF3;Q8TDP1 ABBA01024105;AF312034;AF346605;AF346606;AK024627;AK225131;AK297660;AMYH02024962;AP001266;BC000831;BC023588;BC061891;BM921525;CH471076;L08647;NG_008976;NG_033057;NM_032193 AAH23588;AAL87739;AAO49176;AAO49177;ABM83203;ABM86403;BAB14937;BAG60026;EAW74433;EAW74434;EAW74435;NP_115569;Q8TDP1 Hs.718438 1670455;1676009;1680052;1721733;2108159;2150232;2151675;2163941;2177784;5113920 G59731;HSC0AE062;HTATIP_7974;IB3011;RH18259;RH80901;RH92615;RH99016;STS-U40989;WI-17347 AGS3;AYP1;FLJ20974;MGC22934 OTTHUMP00000233670;OTTHUMP00000233673;OTTHUMP00000233674;OTTHUMP00000233675;RNase H1 small subunit;RNase H2 subunit C;aicardi-Goutieres syndrome 3 protein;ribonuclease H2 subunit C;ribonuclease HI subunit C APPROVED protein-coding ENSG00000172922 HGNC:24116 16531 610329;610330 REVIEWED 6904306 RNASEK-C17orf49 RNASEK-C17orf49 readthrough This locus represents naturally occurring read-through transcription between the neighboring RNASEK (ribonuclease, RNase K) and C17orf49 (chromosome 17 open reading frame 49) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jan 2011] 17 17 p 6915736 6920843 + 7012417 7017524 + 6480464 11181995;12477932;20967262 100529209 H0YIS7 ABBA01054845;AC040977;AMYH02032882;BC040148;CH471108;NR_037717 AAH40148;EAW90276;EAW90277;EAW90279 Hs.511801 5111633 RH81058 APPROVED ncrna HGNC:44419 VALIDATED 1604138 RNASEK ribonuclease, RNase K ENCODES a protein that exhibits endoribonuclease activity; INVOLVED IN RNA phosphodiester bond hydrolysis, endonucleolytic; rRNA transcription; FOUND IN integral component of membrane (inferred); INTERACTS WITH valproic acid; benzo[a]pyrene (ortholog); bis(2-ethylhexyl) phthalate (ortholog) 17 17 17 p13.1 6941303 6943356 + 6915736 6917852 + 7012417 7014533 + 6480464 11181995;12477932;16341674;16712791;17881363;19913121;20628086;21890473;22324914 440400 F8W1G5;H0YHM1;H0YIM4;H0YIU3;I3L285;Q6P5S7 AA633512;AA843796;ABBA01054845;AC040977;AK289930;AM746459;AMYH02032882;BC032510;BC036317;BC051802;BC062705;BC070349;BC095436;BM835723;BQ223829;CB160051;CD176288;CH471108;NM_001004333;NR_037715;NR_037716 AAH51802;AAH62705;AAH95436;BAF82619;CAN89245;EAW90275;NP_001004333;Q6P5S7 Hs.632232 2140410;5015961 D15S1477;SGC33235 MGC48891;MGC71993 17881363;OTTHUMP00000243060;RNase K;RNase kappa;ribonuclease kappa protein-coding ENSG00000219200 HGNC:33911 17568 VALIDATED 1320518 RNASET2 ribonuclease T2 This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq, Jul 2008] 6 6 6 q27 168084182 168111263 - 167342992 167370077 - 166929504 166956589 - 1580863;6480464;7240710;8554872;8699517 11314033;11821951;12477932;14574404;14702039;15489334;15809705;16502470;16620762;16712791;18543608;19382914;19525954;20526339;20601676;21199949;21446958;21646684;21841780;21890473;21994792;22188480;22268729;22732457;22735700;22939629;23000965;23128233;23258633;23630276;23850713;24096698;24327149;24457966;24501781;9192857 8635 D6REQ6;D6RHI9;J3QQ64;O00584 ABBA01033435;AJ419865;AJ419866;AJ419867;AK001769;AK124363;AK315467;AL133458;AL159163;AMYH02014971;BC001660;BC001819;BC019871;BC036282;BC039713;BC041056;BC051912;CB130245;CH471051;NG_016280;NM_003730;U85625;XM_005267186;XM_005267187 AAC51363;AAH01660;AAH01819;AAH39713;AAH51912;BAG37854;CAD12030;CAD12031;CAD12032;EAW47511;EAW47512;EAW47513;EAW47514;EAW47515;EAW47516;EAW47517;EAW47518;EAW47519;NP_003721;O00584;XP_005267243;XP_005267244 Hs.529989 1666900;1773164;1851735;2136964;2178774 A007H48;AL022449;RH12526;SHGC-32979;WI-15078 FLJ42372;RNASE6PL;RP11-514O12.3;bA514O12.3 OTTHUMP00000017608;OTTHUMP00000219255;OTTHUMP00000219415;OTTHUMP00000219416;OTTHUMP00000219417;OTTHUMP00000219421;ribonuclease 6 APPROVED protein-coding ENSG00000026297 HGNC:21686 10197 612944;612951 REVIEWED 1351005 RND3 Rho family GTPase 3 This gene encodes a protein which is a member of the small GTPase protein superfamily. The encoded protein binds only GTP but has no GTPase activity, and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 2 2 2 q23.3 144938960 144958449 - 151324707 151344209 - 150468193 150487695 - 6480464 11940653;12163169;12477932;12730235;12773565;12842009;15489334;15754346;15777789;15778465;16311049;17174923;17182035;18045987;18204440;18721871;18923151;18946488;19101510;19244113;19850923;20683643;21109974;21139048;21209796;21478267;21917148;22037464;22132820;22213123;22234932;22238593;22251971;22272352;22357615;22454524;22477709;22807448;22829315;23333304;23472165;23546594;23622247;23630292;23821457;24045951;24399089;24525741;24667864;8649376;8889548;9531558 390 B2R838;E9PFH1;P61587;Q53RZ3 ABBA01004755;AC074097;AC093738;AF498969;AK298007;AK299731;AK309442;AK313224;AL702945;AMYH02004966;BC012513;BQ440721;BT006769;BX460517;CF127383;CH471058;CR542038;CR542070;DC367501;NM_001254738;NM_005168;S82240;X95282;X97758 AAB47133;AAH12513;AAM21116;AAP35415;AAX88953;AAY15014;ABM81591;ABM81592;ABM84773;ABW03618;BAG36035;BAG60312;BAG61629;CAA64603;CAA66352;CAG46835;CAG46867;EAX11524;EAX11525;EAX11526;EAX11527;EAX11528;NP_001241667;NP_005159;P61587 Hs.6838;Hs.713765 1647449;1714533;1723909;1775849;1797296;2172990;5096167 A004G10;A008Z31;ARHE_2407;RH119467;RH119779;RH12568;RH68892 ARHE;Rho8;RhoE;memB OTTHUMP00000162684;OTTHUMP00000162685;OTTHUMP00000204380;OTTHUMP00000204381;ras homolog gene family, member E;rho-related GTP-binding protein Rho8;rho-related GTP-binding protein RhoE;small GTP binding protein Rho8 APPROVED protein-coding ENSG00000115963 HGNC:671 04233 602924 VALIDATED 1319116 RNASEH1 ribonuclease H1 This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and is necessary for DNA replication and repair. This enzyme is present in both mitochondria and nuclei, which are resulted from translation of a single mRNA with two in-frame initiation start codons. The use of the first start codon produces the mitochondrial isoform and the use of the second start codon produces the nuclear isoform. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF) which overlaps the first initiation start codon in human. An alternately spliced transcript variant has been found which encodes a shorter isoform. This gene has three pseudogenes; two of them are at different locations of chromosome 17 and one of them is on chromosome 1q32.2. [provided by RefSeq, Sep 2014] 2 2 2 p25 3601297 3614926 - 3592675 3605957 - 3544892 3558371 - 1580863;6480464;6907045 10497183;11856317;12036296;12473655;12477932;12667461;14506260;14702039;14960586;15205459;15489334;15815621;16303743;16344560;17028157;17028158;17964265;18337749;19228196;19322201;20823270;20843780;20877624;21443203;21988832;23078533;23990920;24332808;9512096;9799596;9894807 246243 B3KUD4;E5KN15;F8WBP0;F8WD93;O60930 ABBA01006103;ABBA01006104;AC108488;AF039652;AF048994;AF048995;AJ224117;AK075490;AK096913;AMYH02003194;BC002973;BI553044;BT019670;CH471053;CR541820;DA532761;DA612116;HQ205106;HQ205107;HQ205108;HQ205109;HQ205110;HQ205111;HQ205112;HQ205113;HQ205114;HQ205115;HQ205116;HQ205117;HQ205118;HQ205119;HQ205120;HQ205121;HQ205122;HQ205123;HQ205124;HQ205125;HQ205126;HQ205127;HQ205128;HQ205129;HQ205130;HQ205131;HQ205132;HQ205133;HQ205134;HQ205135;HQ205136;HQ205137;HQ205138;HQ205139;HQ205140;HQ205141;HQ205142;HQ205143;HQ205144;HQ205145;NM_001286834;NM_001286837;NM_002936;XR_244873 AAC09261;AAC78563;AAC78564;AAH02973;AAV38476;AAX82026;ABM83523;ABM86750;ADP90574;ADP90575;ADP90576;ADP90577;ADP90578;ADP90579;ADP90580;ADP90581;ADP90582;ADP90583;ADP90584;ADP90585;ADP90586;ADP90587;ADP90588;ADP90589;ADP90590;ADP90591;ADP90592;ADP90593;ADP90594;ADP90595;ADP90596;ADP90597;ADP90598;ADP90599;ADP90600;ADP90601;ADP90602;ADP90603;ADP90604;ADP90605;ADP90606;ADP90607;ADP90608;ADP90609;ADP90610;ADP90611;ADP90612;ADP90613;BAG52156;BAG53396;CAA11835;CAG46619;EAX01061;NP_001273763;NP_001273766;NP_002927;O60930 Hs.568006 H1RNA;RNH1 OTTHUMP00000115314;RNase H1;ribonuclease H type II protein-coding HGNC:18466 04989 604123 REVIEWED 1349364 RNF103 ring finger protein 103 The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011] 2 2 2 p11.2 86658407 86678870 - 86830516 86851000 - 86603393 86623877 - 1580863;6480464 10500182;11071867;12477932;12658376;14702039;15489334;15815621;16215985;16275323;16344560;18615712;18675248;19690564;21906983;8889548;9070305 7844 O00237 AB052743;ABBA01075785;AC015971;AI150469;AK122978;AK314180;AMYH02004198;AW964704;BC022477;BC035053;BC110333;BQ018198;CA312650;CD109559;CH471053;D76444;DA816879;NM_001198951;NM_001198952;NM_005667 AAH35053;AAI10334;AAX93079;ABZ92266;BAA19739;BAB20900;BAG36861;EAW99446;EAW99447;NP_001185880;NP_001185881;NP_005658;O00237 Hs.469199;Hs.731426 1687271;2191501;2218592;5021726;5024413;5037552;5109281;5118444 D11S3316;D1S1425;D8S2279;L17877;MARC_24177-24178:1033563974:1;RH98920;RNF103_1303.3;ksks91 HKF-1;KF-1;KF1;MGC102815;MGC41857;ZFP-103;ZFP103 E3 ubiquitin-protein ligase RNF103;OTTHUMP00000203333;Zinc finger protein expressed in cerebellum;zinc finger protein 103 homolog APPROVED protein-coding ENSG00000239305 HGNC:12859 03939 602507 REVIEWED 3232389 RNASEH2CP1 ribonuclease H2, subunit C pseudogene 1 X Y Y p11.31 88847053 88847623 + 2657867 2658437 + 2789826 2790396 + 7633446;8244390 386608 ABBA01069747;AC006040;NG_011584;NG_011751 5021628;5115620;5115622 SRY-1-1;SRY-1-2;SRY-1-3 AYP1p1 pseudo HGNC:24117 INFERRED 5013867 RNF103-CHMP3 RNF103-CHMP3 readthrough This locus represents naturally occurring read-through transcription between the neighboring RNF103 (ring finger protein 103) and CHMP3 (charged multivesicular body protein 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Oct 2011] 2 2 p 86730553 86948245 - 86503430 86721122 - 6480464;8554872 20967262;24159190;24250222 100526767 Q9Y3E7 ABBA01075783;ABBA01075784;ABBA01075785;ABBA01075786;ABBA01075787;ABBA01075788;AC015971;AC064848;AC068288;AK294389;AMYH02004195;AMYH02004196;AMYH02004197;AMYH02004198;AMYH02004199;AMYH02004200;AMYH02004201;AMYH02004202;NM_001198954 BAG57645;NP_001185883 Hs.591582 2125981;2139720 RH69455;SGC31339 FLJ58988;RNF103-VPS24 OTTHUMP00000219056;RNF103-CHMP3 protein;RNF103-CHMP3 read-through;RNF103-VPS24 fusion protein;RNF103-VPS24 read-through transcript;RNF103-VPS24 readthrough APPROVED protein-coding ENSG00000115561;ENSG00000249884 HGNC:38847 VALIDATED 1314903 RND1 Rho family GTPase 1 This gene encodes a protein that belongs to the Rho GTPase family. Members of this family regulate the organization of the actin cytoskeleton in response to extracellular growth factors. A similar protein in rat interacts with a microtubule regulator to control axon extension. [provided by RefSeq, Apr 2014] 12 12 12 q12 48047029 48055768 - 49250916 49259653 - 48857133 48865870 - 1580863;6480464;8554872 10664463;11095956;11108845;11786539;11940653;11980706;12477932;12730235;12842009;15297673;15489334;15738000;16188938;16311049;17916560;18255255;18976975;18996843;19843518;20980621;21610070;21926972;22357615;22807448;23201090;23603360;23825416;9531558 27289 F8VXU4;H0YHG7;Q92730 AB040147;ABBA01031490;AC117498;AF498967;AK124288;AK292762;AL359573;AMYH02026427;BC026356;CH471111;N79562;NM_014470;Y07923 AAH26356;AAM21114;BAB17851;BAF85451;CAA69228;EAW58019;NP_055285;Q92730 Hs.124940 1736268;2217908;5022576;5022578;5022651;5037552 D11S2921;D12S1224E;D1S1361;D1S1423;D8S2279;RHO6_1726 ARHS;FLJ42294;RHO6;RHOS GTP-binding protein;OTTHUMP00000243692;ras homolog gene family, member S;rho-related GTP-binding protein Rho6 APPROVED protein-coding ENSG00000172602 HGNC:18314 12357 609038 REVIEWED 6908270 RNF10P1 ring finger protein 10 pseudogene 1 3 3 3 5048231 5048845 - 5110312 5110926 - 5068627 5069241 - 100419599 ABBA01020462;AC090955;AMYH02006189;NG_025552 pseudo HGNC:44472 INFERRED 1346643 RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Jul 2008] 1 1 1 q25 155654005 155667341 - 182542769 182558420 - 182573634 182589285 - 1599614;1580863;2292000;2291997;2291998;6480464;6907045;7240710;8554872;8699517 12415269;15040862;15330212;16054567 10454983;10708513;11063255;11333017;11585831;11799394;11941539;12022038;12034027;12073768;12118002;12145743;12167701;12477932;12590567;12624151;12653398;12915880;14570908;14695991;15107989;15534086;1565627;15714208;15824169;15849753;15908960;15981205;16114055;16156900;16166078;16203993;16234235;16235172;16344560;16537704;16627618;16869093;16944274;17020975;17115900;17150764;17200614;17224235;17234723;17237228;17307214;17400356;17407163;17908993;18189233;18289577;18295551;18436282;18566991;18575592;18676680;18676870;18767027;18976975;19088502;19170196;19223501;19245366;19252527;19267370;19625176;19692168;19760027;19851509;19853919;19923450;19961052;20086112;20331378;20410264;20564318;20576793;20588308;20875083;21139048;21221811;21656378;21665181;21685539;21846818;22083266;22464196;22513284;22691533;22925698;23084743;23098452;23109342;23113544;23196181;23382116;23412934;24224612;24578532;24733098;7514564;7514601;7539425;7680958;7688298;8910276;9366257;9497242;9856285;9862963 6041 Q05823 ABBA01027763;AF172072;AK315231;AL138776;AMYH02002275;AW968304;BC090934;BC114433;BC115697;BQ003187;BQ006347;BU940316;BX097443;CB268440;CH471067;CR627369;DA127960;DQ352452;L10381;NG_009024;NM_021133;XM_005245411 AAA18032;AAH90934;AAI14434;AAI15698;ABC74581;CAH10468;EAW91128;NP_066956;Q05823;XP_005245468 Hs.518545 1661233;2122297 SHGC-54540;SHGC-76018 DKFZp781D08126;MGC104972;MGC133329;PRCA1;RNS4 2',5'-oligoisoadenylate synthetase-dependent;2-5A-dependent RNase;2-5A-dependent ribonuclease;OTTHUMP00000033148;RNase L;interferon-induced 2-5A-dependent RNase;ribonuclease 4 2293407;2301800;2301801;2301802;2301835;2301894 PRSTS277_H;PRSTS417_H;PRSTS418_H;PRSTS426_H;PRSTS427_H;PRSTS428_H APPROVED protein-coding ENSG00000135828 HGNC:10050 01590 180435;601518 REVIEWED 68995 RNF112 ring finger protein 112 This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16727296 16733394 + 19314491 19320589 + 19411178 19417276 + 61520;1580863;6480464 8660987 10574464;12477932;19850743;24359566;8889548;9096764;9806830 7732 J3QRB8;Q9ULX5 AB026054;ABBA01054609;AC004448;AF054587;AI952967;AK226052;AK293508;AK309372;AK313844;AMYH02033165;BC038896;BC053989;BE297851;BM973713;CH471212;NM_007148;XM_006721571;XM_006721572;XM_006721573 AAC08584;AAH53989;ABZ92256;BAA84698;BAG56992;EAW50891;EAW50892;NP_009079;Q9ULX5;XP_006721634;XP_006721635;XP_006721636 Hs.189482 2108659 ZNF179_8748 BFP;FLJ99413;ZNF179 brain finger protein;zinc finger protein 179 APPROVED protein-coding ENSG00000128482 HGNC:12968 03140 601237 REVIEWED 1352774 RNF113B ring finger protein 113B ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paraoxon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 13 13 13 q32.2 79675250 79676732 - 98828039 98829521 - 98175785 98177267 - 6480464;8554872 12477932;15057823;15489334;19549727;19690564 140432 Q8IZP6 ABBA01027148;AF539427;AI935007;AL136300;AMYH02028568;BC017585;BC025388;CH471085;NM_178861 AAH17585;AAH25388;AAN33063;ABZ92100;EAX08983;NP_849192;Q8IZP6 Hs.296045 MGC26599;RNF161;ZNF183L1;bA10G5.1 OTTHUMP00000018586;zinc finger protein 183-like 1 protein-coding ENSG00000139797 HGNC:17267 15745 VALIDATED 1344435 RNF113A ring finger protein 113A This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010] X X X q24 119459140 119460436 - 119004495 119005791 - 119870532 119871828 - 1580863;6480464 12477932;15345747;15489334;15772651;17081983;19690564;21044950;22365833;22412018;22493164;24816145;9224902 7737 O15541 ABBA01036619;AC002477;AF086291;AK314778;AMYH02040346;AW001915;BC000832;BC020556;BT007175;CH471161;CS185534;NG_009381;NG_021227;NM_006978;X98253 AAB67605;AAH00832;AAH20556;AAP35839;BAG37314;CAA66907;CAJ42715;EAW89841;NP_008909;O15541 Hs.458365 2150568;2164082 RH47820;SHGC-57117 Cwc24;RNF113;ZNF183 OTTHUMP00000023925;zinc finger protein 183 (RING finger, C3HC4 type) APPROVED protein-coding ENSG00000125352 HGNC:12974 06760 REVIEWED 1349716 RNF114 ring finger protein 114 ENCODES a protein that exhibits ligase activity (inferred); zinc ion binding (inferred); INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); protein ubiquitination (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular; INTERACTS WITH 17beta-estradiol; afimoxifene; benzo[a]pyrene diol epoxide I 20 20 20 q13.13 45257483 45274988 + 48552914 48570422 + 49936377 49953885 + 1580863;6480464;8554872 11256614;11780052;12477932;12621547;14702039;15489334;16169070;16196087;16341674;17207965;18364390;19285159;19549727;19615732;19690564;20515446;20953189;21139048;21571784;21890473;21900206;21906983;21963094;21987572;21988832;22205304;22493164;22505724;22939629;23000965;23617596;23645206;24457600;25015289;25027693;8619474;9110174 55905 Q9Y508 ABBA01052761;ABBA01052762;ABBA01052763;AF131742;AF265215;AK091976;AK097265;AK297188;AK301731;AK315638;AL031685;AMYH02037220;BC013695;BC066919;BM830132;BT006795;BX640603;CH471077;NM_018683 AAF75763;AAH13695;AAH66919;AAP35441;ADQ31574;BAG38006;BAG59677;BAG63197;CAE45709;EAW75641;EAW75642;EAW75643;EAW75644;NP_061153;Q9Y508 Hs.144949 1688438;2110931;2130815;2152398;2165365;2183530;5015861;5109281;7185938 D10S16;D1S1425;D20S134E;D20S584E;RH11676;RH64159;RH79656;WI-12090 PSORS12;ZNF313 E3 ubiquitin-protein ligase RNF114;OTTHUMP00000031257;zinc finger protein 228;zinc finger protein 313 protein-coding ENSG00000124226 HGNC:13094 10329 612451 VALIDATED 2301489 RNF11P1 ring finger protein 11 pseudogene 1 2 2 2 q32.2 184388023 184390701 - 190793087 190795768 - 189928361 189931042 - 100131695 ABBA01062381;AC019178;AMYH02005433;NG_008707 pseudo HGNC:33988 INFERRED 1351517 RNF11P2 ring finger protein 11 pseudogene 2 20 20 20 p12.1 14603168 14603606 - 14527831 14528269 - 14547185 14547623 - 170543 ABBA01053984;AL121582;AMYH02036734;NG_001052 RNF11B;bA280O9.1 ring finger protein 11b, pseudogene pseudo HGNC:16535 INFERRED 1346063 RND2 Rho family GTPase 2 This gene encodes a member of the Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. [provided by RefSeq, Jul 2008] 17 17 17 q21 37834115 37840915 + 41177258 41184058 + 43025241 43032041 + 6480464 11931639;11940653;12244061;12477932;12590651;12730235;12842009;14702039;14732713;15489334;16189514;16311049;16481321;1909153;21989022;22807448;8889548;8938427;9531558 8153 P52198 AB209778;ABBA01006393;AC135721;AF498968;AK096367;AK290199;AMYH02033448;BC018096;BC094842;BC104986;BC104990;BT019394;BU687800;CH471152;DB502558;L78833;NG_005905;NM_005440;X95456;XM_005257706 AAC37595;AAH94842;AAI04987;AAI04991;AAM21115;AAV38201;BAD93015;BAF82888;CAA64726;EAW60919;EAW60920;NP_005431;P52198;XP_005257763 Hs.603111 1691004;2119240;2176024;5014051;5037552;5491669 D8S2278;D8S2279;MARC_7249-7250:996687691:1;RH69062;RH98686;SHGC-30296 ARHN;RHO7;RhoN CTD-3199J23.4;GTP-binding protein Rho7;ras homolog gene family, member N;rho-related GTP-binding protein Rho7;rho-related GTP-binding protein RhoN APPROVED protein-coding ENSG00000108830 HGNC:18315 03332 601555 REVIEWED 1314582 RNF11 ring finger protein 11 The protein encoded by this gene contains a RING-H2 finger motif, which is known to be important for protein-protein interactions. The expression of this gene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). [provided by RefSeq, Jul 2008] 1 1 1 p32 49988475 50025648 + 51701945 51739119 + 51236273 51273447 + 1580863;6480464;7800734;7800735 21119682;23312890 10673045;10810093;11042109;12107109;12477932;14559117;14562029;14755250;15231748;15489334;16123141;16344560;16925951;17917589;18615712;18724389;19056867;19131965;19528490;19549727;19690564;19953087;20676133;21076409;21139048;21832049;21988832;22507528;22975135;23018911;23222715;23308279;23669642;23751493;24377927 26994 Q9Y3C5 AA224090;AB024703;ABBA01074808;ABBA01074809;AF151881;AI817633;AK293047;AK313140;AL049294;AL162430;AMYH02000997;AMYH02000998;BC020964;BC036670;BC047654;CH471059;DB265274;DB564333;NM_014372 AAD34118;AAH20964;AAH47654;ADZ16002;BAA84683;BAF85736;BAG35959;EAX06830;EAX06831;NP_055187;Q9Y3C5 Hs.309641 1339066;1664443;1767025;1798090;2175188;7187538 D1S232;G16048;RNF11_793.2;SHGC-152673;SHGC-30255 CGI-123;MGC51169;SID1669 OTTHUMP00000009895 APPROVED protein-coding ENSG00000123091 HGNC:10056 09955 612598 REVIEWED 1320805 RNF111 ring finger protein 111 The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] 15 15 15 q21 36167824 36277204 + 59279865 59389618 + 58987666 59097419 + 1580863;6480464;6484113 11298452;11298453;11516970;12477932;14657019;14702039;15146197;15231748;15489334;16344560;16601693;17510063;17591695;18029348;18059455;18451154;18950738;19549727;19690564;19898560;19959502;20936779;20965945;21139048;21182207;21252943;21693764;21795712;21963094;21998011;22411132;22493164;22916037;22939624;23086935;23212909;23246292;23394999;23455922;23467611;23530056;23751493;24047820;24722188;24912682 54778 H0YKK5;H0YKS2;H0YLK9;Q6ZNA4 ABBA01038970;ABBA01038971;ABBA01038972;AC025918;AC092757;AI189975;AK095327;AK131304;AK131488;AL157474;AL832089;AMYH02030539;BC010369;BC020984;BC060862;BM986870;BX538130;BX647259;CH471082;CN420669;DA720863;N24855;NM_001270528;NM_001270529;NM_001270530;NM_017610;XM_005254473;XM_005254475;XM_005254476;XM_005254479;XM_006720575;XM_006720576;XM_006720577;XM_006720578;XM_006720579;XM_006720580 AAH10369;AAH20984;AAH60862;BAC04531;BAD18471;BAD18633;CAB75669;CAD98031;EAW77554;EAW77555;EAW77556;EAW77557;EAW77558;EAW77559;EAW77560;EAW77561;EAW77562;NP_001257457;NP_001257458;NP_001257459;NP_060080;Q6ZNA4;XP_005254530;XP_005254532;XP_005254533;XP_005254536;XP_006720638;XP_006720639;XP_006720640;XP_006720641;XP_006720642;XP_006720643 Hs.404423;Hs.603489;Hs.741727 1674940;1674942;1752427;1761561;1776069;1796694;2120734 HSC2GC092;RH70120;RNF111_1287;SHGC-106322;SHGC-145559;STS-W80457;WI-14720 ARK;DKFZp313E0731;DKFZp686H1966;DKFZp761D081;FLJ38008 Arkadia;E3 ubiquitin-protein ligase Arkadia;OTTHUMP00000163571 APPROVED protein-coding ENSG00000157450 HGNC:17384 09318 605840 REVIEWED 1352221 RNF122 ring finger protein 122 The encoded protein contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. The encoded protein is localized to the endoplasmic reticulum and golgi apparatus, and may be associated with cell viability. [provided by RefSeq, Jul 2013] 8 8 8 p12 32354976 32374346 - 33405272 33424646 - 33547754 33567128 - 6480464;8554872 10737800;12477932;14702039;15489334;16344560;16751333;16778963;19322201;19690564;20553626;21890473;21906983;21963094;22505724;7601449;8744354 79845 Q9H9V4 ABBA01023608;AC013603;AK022588;AMYH02017770;AU124463;BC093884;BC101573;BF847236;CH471080;D38656;DA610129;DA904646;NM_024787 AAH93884;AAI01574;BAB14115;EAW63395;NP_079063;Q9H9V4 Hs.151237 1798092 RNF122_1853 FLJ12526;MGC126622 OTTHUMP00000225468 APPROVED protein-coding ENSG00000133874 HGNC:21147 11498 REVIEWED 1350672 RNF123 ring finger protein 123 The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. [provided by RefSeq, Feb 2012] 3 3 3 p24.3 49691681 49723653 + 49726950 49758962 + 49689517 49721529 + 1580863;6480464;8554872 11076863;11230166;11256614;12477932;14702039;15231748;15489334;15489336;15498874;15531880;15746103;16227581;16344560;16381901;17148452;17353931;20307617;21139048;21355095;21890473;21906983;21982424;21987572;22145905;22505724;22688066;22863883;23000965;23077635;23287719;23668904;24250222;24816145 63891 C9J266;C9JI97;C9JN91;C9JS59;F8WB91;H7C3U1;Q5XPI4 ABBA01024577;AC099668;AF370367;AK022627;AK026968;AK090632;AK096353;AK126883;AK308130;AK308607;AL136729;AL832034;AL832138;AL832344;AMYH02006756;AY744152;BC041145;BC057392;BC088801;BC112900;BC130632;CR627051;DA334003;NG_011603;NM_022064;XM_006713285 AAH41145;AAH57392;AAH88801;AAI30633;AAQ15203;AAU93470;BAB14139;BAB15607;BAG53271;CAB66663;CAL37940;NP_071347;Q5XPI4;XP_006713348 Hs.553723 1667970;1675610;1684495;1712112;1741309;1766361;1852317;1856980;2106421;2117546;2130433;2153948;2177221;2191315 A004P45;A005X28;A007E08;AMIGO3__4297;D3S3810;G54105;GDB:180399;MARC_17265-17266:1024683815:1;RH15941;RH65603;RH78233;RH78461;RH91732;SHGC-149700 DKFZp686C2222;FLJ12565;FP1477;KPC1;MGC163504 E3 ubiquitin-protein ligase RNF123;OTTHUMP00000210942;kip1 ubiquitination-promoting complex protein 1;ubiquitin ligase APPROVED protein-coding ENSG00000164068 HGNC:21148 11499 614472 REVIEWED 1313271 RNF115 ring finger protein 115 ENCODES a protein that exhibits ubiquitin-protein transferase activity; ubiquitin protein ligase activity (ortholog); INVOLVED IN negative regulation of epidermal growth factor receptor signaling pathway; protein autoubiquitination; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; all-trans-retinoic acid 1 1 1 q21.1 119814376 119891801 + 145610990 145689005 + 145746082 145824123 - 1580863;6480464;8554872 11591653;12477932;12972561;15489334;16123141;16288031;16710414;16925951;17462600;18781797;18819927;19322201;19690564;20019814;20237496;20379614;21139048;21832049;21890473;21987572;22315970;22505724;22844532;22850893;23000965;23242606;23418353;23962720;24027428;24403860;24852021 27246 Q9Y4L5 ABBA01005739;ABBA01005740;ABBA01005741;AC239808;AC242845;AF419857;AF542552;AK290749;AL079312;AL079314;AL160282;AL390725;BC054049;BC064903;BG684824;CH471244;CQ834134;HY099262;NM_014455;XM_005272952 AAH54049;AAH64903;AAP97292;AAQ09535;ABZ92156;ABZ92320;ACT64467;ACT64468;BAF83438;CAB45280;CAH05282;CAI13717;EAW71437;EAW71438;NP_055270;Q9Y4L5;XP_005273009 Hs.523550 1336580;1645187;1671874;1700968;1705964;1775149;2162529;7185576 D1S442;G23710;RH104111;RH65408;SHGC-56583;SHGC-75411;SHGC-79691 BCA2;ZNF364 E3 ubiquitin-protein ligase RNF115;OTTHUMP00000015602;rabring 7;zinc finger protein 364 protein-coding HGNC:18154 18328 VALIDATED 1347456 RNF126P1 ring finger protein 126 pseudogene 1 INTERACTS WITH arsenous acid; diarsenic trioxide 17 17 17 q22 51584412 51585729 + 55122839 55124156 + 57045478 57046795 + 737633;6480464 12477932 376412 ABBA01041310;AC007114;AMYH02033667;BC033555;NR_002818 Hs.132299 pseudo ENSG00000261192 HGNC:30340 PROVISIONAL 1603197 RNF128 ring finger protein 128, E3 ubiquitin protein ligase The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] X X X q22.3 106408414 106511630 + 105937068 106040246 + 106693838 106797016 + 6480464 12477932;12705856;14661020;14702039;15489334;15772651;17114425;17207965;17259178;17475842;18467499;18641297;18713730;19414743;19542455;19549727;23370271 79589 Q5JSK4;Q8TEB7 ABBA01035806;ABBA01035807;ABBA01035808;ABBA01035809;ABBA01035810;ABBA01035811;ABBA01035812;ABBA01035813;ABBA01035814;ABBA01035815;ABBA01035816;ABBA01035817;ABBA01035818;ABBA01035819;ABBA01035820;ABBA01035821;AF394689;AK027169;AK074264;AK126553;AL391315;AL606833;AMYH02040209;BC012931;BC030951;BC036901;BC056677;BC063404;BI600046;CH471120;NG_012576;NM_024539;NM_194463 AAH30951;AAH56677;AAH63404;AAK77554;ADQ32615;BAB15682;BAB85033;BAC86589;EAX02737;NP_078815;NP_919445;Q8TEB7 Hs.496542 1335207;1339662;1699396;1751587;1773488;1798096 DXS8048;DXS8097;RH103289;RNF128_2495;SHGC-105584;SHGC-33056 FLJ23516 E3 ubiquitin-protein ligase RNF128;GRAIL;OTTHUMP00000023786;OTTHUMP00000023787;OTTHUMP00000023788;gene related to anergy in lymphocytes protein APPROVED protein-coding ENSG00000133135 HGNC:21153 02340 300439 REVIEWED 1351392 RNF13 ring finger protein 13 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q25.1 147943825 148093287 + 149530475 149679926 + 149812688 149962139 + 1580863;6480464 12477932;14702039;15489334;16166738;16344560;16712791;17897319;18029348;18794910;19292867;19690564;20230530;21139048;21963094;22505724;22890573;23378536;24387786;25015289;8610176;8619474;9110174 11342 C9IY58;C9J383;C9J7B4;C9J8T4;C9JCY0;C9JRV0;C9JU37;C9JYN7;C9JYY4;F8WDJ5;F8WEX6;H7C5Q6;O43567 ABBA01058936;ABBA01058937;ABBA01058938;ABBA01058939;AC069216;AC117395;AF037204;AF070558;AK090638;AK090771;AK313304;AMYH02007886;AMYH02007887;BC009781;BC009803;BC017878;BG030058;BG546092;BG708380;BM556246;BQ424702;BU077446;CB109037;CH471052;CR456804;DA031838;NM_007282;NM_183381;XM_005247092 AAC03769;AAC28641;AAH09781;AAH09803;AAH17878;ABZ92304;ADZ15726;BAG36109;BAG52202;BAG52224;CAG33085;EAW78858;EAW78859;EAW78860;EAW78861;EAW78862;EAW78863;NP_009213;NP_899237;O43567;XP_005247149 Hs.12333 1654899;1796702;2139390;2146067;5091307;5113486 A004H09;A008P47;RH25558;RNF13_723;SHGC-37453;SHGC-77433 FLJ93817;MGC13689;RZF E3 ubiquitin-protein ligase RNF13;OTTHUMP00000197095;OTTHUMP00000216206;RING zinc finger protein APPROVED protein-coding ENSG00000082996 HGNC:10057 11503 609247 REVIEWED 1315557 RNF125 ring finger protein 125, E3 ubiquitin protein ligase This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012] 18 18 18 q12.1 26404874 26460130 + 29598445 29653154 + 32018482 32073191 + 1580863;6480464;6907045 12477932;12974981;14702039;15489334;15843525;17643463;17719635;17990982;19549727;21571784;21906983;21963094;22493164;22632162;23105109;23772026;24131985;8125298;8744354 54941 J3QQW8;Q96EQ8 ABBA01022494;ABBA01022495;ABBA01022496;ABBA01022497;AC009831;AC011825;AK000463;AK027134;AK225518;AMYH02034517;AMYH02034518;BC012021;BI666910;BM469263;BU500546;CH471088;KF456369;NM_017831 AAH12021;BAA91182;EAX01278;NP_060301;Q96EQ8 Hs.633703 2114124;5014063;5015879;5015961;5016478;5016596;5037552;5109281;5117897 AB060918;D15S1390;D15S1477;D1S1425;D8S2279;GDB:314949;GDB:434012;GDB:631802;GDB:631813 FLJ20456;MGC21737;TRAC-1;TRAC1 E3 ubiquitin-protein ligase RNF125;OTTHUMP00000163102;T-cell RING activation protein 1;T-cell ring protein identified in activation screen APPROVED protein-coding ENSG00000101695 HGNC:21150 11500 610432 REVIEWED 1317294 RNF121 ring finger protein 121 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Several alternatively spliced transcript variants have been noted for this gene, however, not all are likely to encode viable protein products. [provided by RefSeq, Sep 2008] 11 11 11 q13.4 68941723 69010615 + 71639768 71708643 + 71928701 71997597 + 6480464 12477932;14702039;15146197;15489334;16344560;24816145 55298 C9JQY5;E9PKE9;E9PLR7;E9PN80;E9PRV6;F8WDV7;G3V148;H0YEH6;Q9H920 ABBA01017544;AI291325;AK001961;AK023139;AK094508;AL833638;AMYH02025069;AMYH02025070;AMYH02025071;AMYH02025072;AP002490;BC009672;BC063680;BC093084;BC117273;BG328761;BG428563;BX463021;CH471076;CN392009;CQ834452;CQ834588;CR457298;DA209781;DA694800;NM_001300926;NM_018320;NR_024147;NR_024148;XM_006718629;XM_006718630;XM_006718631;XM_006718632;XM_006718633;XM_006718634;XM_006718635 AAH09672;AAH63680;AAI17274;AAI41465;BAA92002;BAB14423;BAG52880;CAG33579;CAH05441;CAH05509;EAW74807;EAW74808;EAW74809;EAW74810;EAW74811;NP_001287855;NP_060790;Q9H920;XP_006718692;XP_006718693;XP_006718694;XP_006718695;XP_006718696;XP_006718697;XP_006718698 Hs.368554 1687423;1737259;1857612;2140792;2184252;2217910 D11S3124;RH46542;RH79689;RNF121_1642;STS-AA026901;STS-AA027055 FLJ11099 OTTHUMP00000211317;OTTHUMP00000236445 APPROVED protein-coding ENSG00000137522 HGNC:21070 11497 REVIEWED 1343865 RNF130 ring finger protein 130 The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 5 5 5 q35.3 175007667 175124334 - 179382067 179499118 - 179955067 180072130 - 6480464 10806348;12477932;13679316;15489334;15761153;16169070;16549277;16797685;18029348;19690564;21139048;21150319;21347282;22505724;24250222;7566098 55819 E5RI87;Q2HIY3;Q86XS8 AA339219;AB209800;ABBA01010049;ABBA01010050;ABBA01010051;ABBA01010052;ABBA01010053;AC010285;AC026413;AC122713;AF155650;AK313089;AL515761;AMYH02012898;AY083998;BC017100;BC065244;BC082267;BC108306;BC113864;BC114472;BP390145;BQ447530;BX404014;CH471165;DB572650;NM_001280801;NM_018434;XM_006714890 AAF67007;AAH17100;AAH65244;AAH82267;AAI08307;AAI13865;AAI14473;AAM08686;BAD93037;BAG35914;EAW53772;EAW53773;EAW53774;EAW53775;NP_001267730;NP_060904;Q86XS8;XP_006714953 Hs.484363 1661750;1668958;1694776;1706512;1780754;2175762 D5S1449;D5S2637;G43603;RH48384;SHGC-81227;bac51953S G1RZFP;GP;MGC117241;MGC138647;MGC99542 E3 ubiquitin-protein ligase RNF130;GOLIATH;H-Goliath;OTTHUMP00000161515;OTTHUMP00000224297;OTTHUMP00000224298;g1-related zinc finger protein;goliath homolog APPROVED protein-coding ENSG00000113269 HGNC:18280 11504 REVIEWED 1350521 RNF133 ring finger protein 133 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene has no intron. [provided by RefSeq, Jul 2008] 7 7 7 q31.32 117142067 117143509 - 122337766 122339208 - 122697712 122699154 - 6480464;8554872 12477932;12690205;12853948;14702039;15489334;17207965;19549727;20379614;24324551;8744354;9847074 168433 Q8WVZ7 ABBA01057744;AC004594;AC006009;AC006463;AC015983;AC091438;AF447589;AK098524;AMYH02016676;BC022038;CH236947;CH471070;HC007258;HC044719;NG_016215;NM_139175 AAH22038;AAM22872;AAQ96858;ACT64488;ACT64489;ADQ31679;BAC05321;CBH19434;CBH30689;EAL24341;EAW83577;NP_631914;Q8WVZ7 Hs.126730 1796696;2113710 AB070023;RNF133_1733r1 MGC27072 E3 ubiquitin-protein ligase RNF133;OTTHUMP00000211453 APPROVED protein-coding ENSG00000188050 HGNC:21154 11505 REVIEWED 1313173 RNF135 ring finger protein 135 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 26218879 26247850 + 29296224 29326929 + 30958292 30999911 + 6480464;7240710;8699517;8554872 11002417;11468690;12477932;12696059;14702039;15334068;15489334;16344560;17632510;18391951;19017631;19291764;19484123;19881509;20546612;22797925;23950712;8125298 84282 B3KV69;H7C3H8;J3QS68;K7EQF1;Q8IUD6 AB470605;ABBA01014973;ABBA01014974;ABBA01014975;ABBA01014976;ABBA01014977;AC138207;AI634044;AJ496729;AK122646;AK122709;AK226030;AK312979;AMYH02033288;AMYH02033289;AMYH02033290;AY598332;BC005084;BC082262;BC126420;BC126422;BC144143;CH471147;DA878616;NG_011701;NM_001184992;NM_032322;NM_197939;XM_005258043;XM_006722138 AAH05084;AAI26421;AAI26423;AAT06743;BAG35816;BAG53638;BAG53681;BAG84604;CAD43140;EAW80286;NP_001171921;NP_115698;NP_922921;Q8IUD6;XP_005258100;XP_006722201 Hs.29874 2126671 UniSTS:494596 L13;MGC13061;MMFD;REUL E3 ubiquitin-protein ligase RNF135;OTTHUMP00000163764;OTTHUMP00000163766;OTTHUMP00000163767;RIG-I E3 ubiquitin ligase;Riplet APPROVED protein-coding ENSG00000181481 HGNC:21158 11506 611358;614192 REVIEWED 8662733 RNF138P2 ring finger protein 138, E3 ubiquitin protein ligase pseudogene 2 7 7 7 53444578 53445092 + 53383898 53384412 + 53316205 53316719 + 100419777 ABBA01011830;AC092208;AMYH02015720;CH236957;NG_026566 pseudo HGNC:50775 INFERRED 1347730 RNF138P1 ring finger protein 138, E3 ubiquitin protein ligase pseudogene 1 5 5 5 q11.2 51778783 51784483 - 54824670 54830370 - 55528842 55534542 - 737633 12477932 14702039 379013 ABBA01015743;AC025777;AMYH02011314;BC040295;NR_001575 Hs.745164 5015619;5017227;5022200 D11S3114;G38154;L18426 APPROVED pseudo HGNC:30342 PROVISIONAL 1314381 RNF126 ring finger protein 126 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 154322 170071 + 647526 663313 - 647526 663313 - 6480464 12477932;12938929;14667819;14702039;15489334;16189514;16196087;18775313;19549727;21139048;21900206;21987572;22118674;22190034;22493164;22992278;23026136;23105109;23246001;23277564;23349634;23383273;23418353;24275455;24811749;8744354 55658 A8K0Q1;K7EIY6;Q9BV68;U3KPY8;U3KQF4 ABBA01002580;AC004156;AC004449;AK000559;AK289616;AL360265;AMYH02035117;AMYH02035118;AMYH02035119;BC001442;BC025374;BG773910;BM558139;BM810439;CA440294;CH471242;NG_016713;NM_194460;XM_005259594 AAC06149;AAH01442;AAH25374;BAA91254;BAF82305;CAB96178;EAW61167;EAW61168;EAW61169;EAW61170;EAW61171;EAW61172;EAW61173;NP_919442;Q9BV68;XP_005259651 Hs.69554 1677312;1798094;2191121 MARC_14879-14880:1010077235:1;RH93336;RNF126_1973 FLJ20552;MGC1022;MGC14317 E3 ubiquitin-protein ligase RNF126 APPROVED protein-coding ENSG00000070423 HGNC:21151 11501 615177 REVIEWED 1605080 RNF138 ring finger protein 138, E3 ubiquitin protein ligase The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 18 18 18 q12.1 26478784 26518455 + 29671818 29711524 + 32091855 32131561 + 6480464 12477932;14702039;15489334;16189514;16344560;16713569;16714285;19322201;19549727;20379614;21145461;21832049;22155992;22493164;8744354 51444 J3KRU4;J3KSI2;J3QKM8;J3QLQ3;Q8WVD3 ABBA01022491;ABBA01022492;AC011825;AF162680;AK023579;AK315761;AL133557;AMYH02034519;AX882981;BC018107;BI461242;BI463820;BM564125;BT006878;BU662580;CH471088;CR457150;DA752192;DB091985;DB452430;NG_029944;NM_001191324;NM_016271;NM_198128;XM_005258285;XM_005258286;XR_430075 AAD46623;AAH18107;AAP35524;ABM81670;ABM84840;BAB14614;BAG38114;CAB63712;CAE91797;CAG33431;EAX01280;EAX01281;EAX01282;EAX01283;NP_001178253;NP_057355;NP_937761;Q8WVD3;XP_005258342;XP_005258343 Hs.302408 1682822;1687728;1689370;1690013;1796700;5093134 G32540;RH39230;RH39261;RH47733;RH67231;RNF138_1666 HSD-4;MGC8758;NARF;STRIN;hNARF E3 ubiquitin-protein ligase RNF138;NLK-associated RING finger protein;Nemo-like kinase-associated RING finger protein;OTTHUMP00000163100;OTTHUMP00000163101;nemo-like kinase associated ring finger protein APPROVED protein-coding ENSG00000134758 HGNC:17765 11508 REVIEWED 7247678 RNF139-AS1 RNF139 antisense RNA 1 (head to head) 8 8 q24.13 125485049 125487106 - 124462493 124474563 - 101927612 AA905116;ABBA01037896;ABBA01037897;AC090192;AC090198;AK075052;AMYH02018717;CR933665;HG501647;NR_108047;NR_108048 Hs.633137 RP11-383J24.5 ncrna ENSG00000245149 HGNC:48940 VALIDATED 1315417 RNF139 ring finger protein 139 The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008] 8 8 8 q24 121675173 121688974 + 125487008 125500859 + 124474767 124488618 + 1599629;2289870;6480464;7240710;8699517 17539022;9689122 10500182;12032852;12477932;14702039;15489334;17016439;17081983;19549727;19690564;19706601;19720873;20068067;21343306;22143767;22689053;23223569;24250222;8889548 11236 E5RH85;Q8WU17 AA455970;ABBA01037897;ABBA01037898;AC090198;AF064800;AF064801;AK001602;AK025043;AK098519;AMYH02018717;AMYH02018718;BC021571;BC064636;BI562637;BM677460;BM804626;CD171728;CH471060;CQ871298;NG_012158;NM_007218 AAC39930;AAC39931;AAH21571;AAH64636;BAG50947;CAH56830;EAW92064;NP_009149;Q8WU17 Hs.744151 1735732;1793366;1793368;1793370;1793372;1793374;1793376;1793378;1793380;1793382;1793384;1793386;1793388;1793390;1793392;1793394;1798100;2146731;2170227;2190565 D8S1351E;EST3C7;PMC21380P1;PMC21380P10;PMC21380P11;PMC21380P12;PMC21380P13;PMC21380P14;PMC21380P15;PMC21380P2;PMC21380P3;PMC21380P4;PMC21380P5;PMC21380P6;PMC21380P7;PMC21380P8;PMC21380P9;RH12544;RH48564;RNF139_1825 HRCA1;MGC31961;RCA1;TRC8 E3 ubiquitin-protein ligase RNF139;OTTHUMP00000228351;multiple membrane spanning receptor TRC8;patched related protein translocated in renal cancer;translocation in renal carcinoma on chromosome 8 protein APPROVED protein-coding HGNC:17023 04333 144700;603046 REVIEWED 1350770 RNF141 ring finger protein 141 The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 10654741 10684309 - 10533225 10562774 - 10511678 10541227 - 1580863;6480464 11672448;12477932;12804569;15489334;15761153;19322201;22493164;50862;8889548 50862 E9PLX2;E9PNF8;E9PQV2;Q8WVD5 ABBA01061157;AC021914;AF214680;AI356880;AI912940;AK289764;AK309367;AL598903;AL600289;AMYH02024327;BC018104;BC035089;BF970569;BG108453;BQ229248;BT006662;BU679024;BX647862;CB956484;CH471064;NM_016422 AAF30180;AAH18104;AAP35308;BAF82453;EAW68566;NP_057506;Q8WVD5 Hs.44685;Hs.712894 1646890;1669408;1673275;1687163;1730315;1736184;1776138;1796704;1852833;2117072;2142062;2167632;5022450;5024761;7184688 A002V33;D10S275;D11S2258E;D11S2260E;D11S2321E;D11S4386;D11S954E;RH36087;RH36905;RH46097;RH91769;RNF141_1785;STS-N34870;STS-N35020 MGC8715;ZFP26;ZNF230 C3HC4-like zinc finger protein;OTTHUMP00000230792;OTTHUMP00000230793;OTTHUMP00000230794;zinc finger protein 230 APPROVED protein-coding ENSG00000110315 HGNC:21159 11509 REVIEWED 1343789 RNF144A ring finger protein 144A The protein encoded by this protein contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The mouse counterpart of this protein has been shown to interact with Ube2l3/UbcM4, which is an ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Jul 2008] 2 2 2 p25.2 6970459 7097185 + 7057523 7209011 + 6917392 7044179 + 1580863;6480464;8554872 10431818;10942595;11722579;12411495;12477932;15489334;16344560;19549727;20195266;20379614;22184113;23105109;24979766;8724849;8889548 9781 C9JLH4;H7C3G0;P50876 ABBA01023896;ABBA01023897;AC017076;AC068481;AK293854;AMYH02003227;BC035051;BC050373;BM550396;BM931543;BQ219370;BQ423668;BQ427820;BQ574061;CD101678;CH471053;D79983;DA234807;KF456627;NM_014746;XM_005246200;XM_005246201;XM_005246202;XM_005246203;XM_006711909 AAH50373;AAX82010;ABZ92280;BAA11478;BAG57251;EAX01029;EAX01030;EAX01031;EAX01032;NP_055561;P50876;XP_005246257;XP_005246258;XP_005246259;XP_005246260;XP_006711972 Hs.22146 1654764;1666347;1681350;1681588;1697824;1703186;1721285;1723773;1734910;1750311;1756045;1762745;1779964;1796706;2130319;2157078;5022200;5037552 D2S1607E;D2S1683E;D2S1971;D8S2279;FB17A8;G59639;L18426;RH102437;RH118624;RH16628;RH25379;RH75154;RNF144_795;SGC32235;SHGC-112486;SHGC-142856;SHGC-146534;SHGC-154209 KIAA0161;RNF144;UBCE7IP4 OTTHUMP00000115411;OTTHUMP00000200443;UbcM4-interacting protein 4;probable E3 ubiquitin-protein ligase RNF144A;ring finger protein 144;ubiquitin conjugating enzyme 7 interacting protein 4;ubiquitin-conjugating enzyme 7-interacting protein 4 APPROVED protein-coding ENSG00000151692 HGNC:20457 11510 REVIEWED 1318869 RNF144B ring finger protein 144B ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein ubiquitination involved in ubiquitin-dependent protein catabolic process; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; mitochondrial membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 6 6 6 p22.3 19625477 19706989 + 18277602 18469105 + 18277539 18468874 + 6480464;8554872 12477932;12853982;14574404;14702039;15489334;16427630;17207965;18821565;19322201;19549727;19690564;20300062;20379614;20615966;23105109;23128396;23472165;24979766 255488 Q7Z419 AB076367;ABBA01022236;AJ420555;AK096832;AK302935;AL031774;AL138725;AL138825;AL832329;AMYH02013222;AMYH02013223;BC063311;CH471087;NM_182757;XM_005248984;XM_005248985;XM_005248986 AAH63311;ACE86800;ACE87487;ADQ32523;BAC02434;BAG53370;BAG64094;CAD38622;EAW55406;EAW55407;EAW55408;EAW55409;EAW55410;NP_877434;Q7Z419;XP_005249041;XP_005249042;XP_005249043 Hs.148741 1849961;2122583;2160276;2168298;2168300;2183575;5093372 A003N40;A005N35;A009N14;G20359;G32680;RH12676;STS-R00513 IBRDC2;KIAA0161;MGC71786;PIR2;bA528A10.3;p53RFP E3 ubiquitin-protein ligase RNF144B;IBR domain containing 2;IBR domain-containing protein 2;OTTHUMP00000016079;p53-inducible RING finger protein protein-coding ENSG00000137393 HGNC:21578 17126 VALIDATED 1602832 RNF145 ring finger protein 145 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 5 5 5 q33.3 154615596 154665655 - 158584417 158637061 - 159157409 159210053 - 6480464;8554872 12477932;14702039;16303743;19820697;21890473;21906983;21963094;22139419;23000965;24250222 153830 A8K9Y9;Q8NDT8;Q96MT1 ABBA01044242;AC134043;AK056513;AK075101;AK098802;AK126290;AK292854;AK294323;AK304228;AK304435;AK308394;AK311433;AL697229;AL831829;AMYH02012584;AMYH02012585;AMYH02012586;BC042684;BC044767;BX537635;BX640806;CH471062;CK821118;DC418555;NM_001199380;NM_001199381;NM_001199382;NM_001199383;NM_144726;XM_005265826 AAH42684;ADZ15598;BAB71200;BAC05416;BAC11401;BAF85543;BAG54304;BAH11735;BAH14139;BAH14185;CAD38542;CAD97802;CAE45888;EAW61579;NP_001186309;NP_001186310;NP_001186311;NP_001186312;NP_653327;Q96MT1;XP_005265883 Hs.349306 DKFZp686M11215;FLJ31951;FLJ44310 OTTHUMP00000160819;OTTHUMP00000224218;OTTHUMP00000224219;OTTHUMP00000224220;OTTHUMP00000224221;OTTHUMP00000224222 protein-coding ENSG00000145860 HGNC:20853 08113 VALIDATED 1315124 RNF146 ring finger protein 146 ENCODES a protein that exhibits poly-ADP-D-ribose binding; ubiquitin-protein transferase activity; INVOLVED IN positive regulation of canonical Wnt signaling pathway; protein autoubiquitination; protein K48-linked ubiquitination; FOUND IN cytosol; INTERACTS WITH amiodarone; benzo[a]pyrene; copper(2+) sulfate 6 6 6 q22.1-q22.33 128330302 128351791 + 127587827 127609707 + 127266682 127288562 + 1580863;6480464 11076863;11230166;12477932;14574404;14702039;15146197;15489334;15489336;15761153;15813938;16169070;16344560;16381901;18326623;19517271;19549727;19690564;21478859;21799911;21825151;22153076;22267412;22274711;22504418;23277359;24454854 81847 Q9NTX7;V9GYK9;V9GYY4;V9GZ53 ABBA01025935;AI929027;AJ315122;AJ420549;AK027436;AK027558;AK027776;AL109939;AL136829;AMYH02014444;BC008235;BG708628;BI669435;BI771613;CH471051;CN388414;CR533514;DA043259;DA145911;DA639989;DA707096;DA826982;DB267873;NM_001242844;NM_001242845;NM_001242846;NM_001242849;NM_001242850;NM_001242851;NM_001242852;NM_030963;NR_045102;NR_045103;XM_006715571 AAH08235;BAB55108;BAB55196;BAB55359;CAB66763;CAC85986;CAG38545;CAL37596;CAL38663;EAW48109;EAW48110;EAW48111;EAW48112;EAW48113;NP_001229773;NP_001229774;NP_001229775;NP_001229778;NP_001229779;NP_001229780;NP_001229781;NP_112225;Q9NTX7;XP_006715634 Hs.267120 1643963;1684930;2134003;2164045 A003A13;RH1539;RH67929;SHGC-36270 DKFZp434O1427;RP3-351K20.1;dJ351K20.1 2610509H23Rik;E3 ubiquitin-protein ligase RNF146;OTTHUMP00000017162;OTTHUMP00000017163;dactylidin;iduna protein-coding ENSG00000118518 HGNC:21336 612137 VALIDATED 1319543 RNF10 ring finger protein 10 The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 120606443 120649686 + 120972132 121015397 + 120534308 120577594 + 1580863;6480464 10697961;12168954;12477932;14702039;15489334;16169070;16335786;16341674;16344560;18541383;18624398;18854154;18941509;19549727;20020773;21044950;21139048;21424732;21890473;22493164;22939624;23000965;23028342;23455924;24211586;9039502 9921 B3KWY9;F5H3A4;F5H510;F5H5P6;F5H5Z1;H0YF69;H0YFN9;H0YFQ9;H0YG28;H0YGL7;H0YGX5;Q8N5U6 AB027196;ABBA01020128;ABBA01020129;AC063943;AK094011;AK097807;AK126274;AK301608;AK315558;AL389976;AL578551;AMYH02027375;AMYH02027376;AMYH02027377;BC016622;BC031596;BC101709;BC101715;BC143493;BM828423;BQ015862;BT006974;CH471054;D87451;DA103961;DB526099;NM_014868;XM_005254013;XM_005254014;XM_006719717;XR_243026;XR_243027;XR_429123 AAH16622;AAH31596;AAI01710;AAI01716;AAP35620;AAP36359;ABM84731;ABM92251;BAA13392;BAA84708;BAG37934;BAG52797;BAG53531;BAG54301;BAG63094;CAB97533;EAW98200;EAW98201;EAW98202;EAW98203;EAW98204;NP_055683;Q8N5U6;XP_005254070;XP_005254071;XP_006719780 Hs.442798 1669379;1736236;1736246;1796692;1851135;2134656;2149049;2152641;2163103;2171089;2176224 A007E11;D12S1147E;D12S1173E;D12S1196E;RH17496;RH45155;RH46538;RNF10_792;SGC35167;SHGC-33949;SHGC-64103 KIAA0262;MGC126758;MGC126764;RIE2 OTTHUMP00000239906;OTTHUMP00000239907 APPROVED protein-coding ENSG00000022840 HGNC:10055 11496 615998 REVIEWED 1318240 RNF149 ring finger protein 149 ENCODES a protein that exhibits ligase activity (inferred); ubiquitin-protein transferase activity (inferred); zinc ion binding (inferred); INVOLVED IN cellular response to drug (inferred); negative regulation of MAPK cascade (inferred); protein ubiquitination (inferred); FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH 2-methylcholine; arsane; arsenic atom 2 2 2 q11.2 96096053 96129169 - 101887681 101925178 - 101272954 101308716 - 737633;1580863;6480464 12477932 11076863;14702039;15489334;15489336;15815621;16344560;16381901;18029348;19322201;19946888;20686608;21139048;21890473;21906983;21963094;21987572;22628551;23000965;24250222 284996 F8WCD0;Q8NC42 ABBA01073912;AC013722;AC073643;AK074985;AK075141;AK129799;AMYH02004424;AY450390;BC019355;BC032328;BC045743;CH471127;CQ782963;DA383672;NM_173647;XM_005263920;XM_005263921;XR_244888 AAH19355;AAH32328;AAH45743;AAR21083;AAY14775;AAY15089;BAC11334;BAC11430;CAF86191;CAL37444;EAX01817;EAX01818;EAX01819;EAX01820;NP_775918;Q8NC42;XP_005263977;XP_005263978 Hs.142074 1643708;1655592;1687780;1725751;2114246;2119423;5015619 1152;A008J47;D11S3114;G62124;RH48976;STS-AA011533;WI-15454 DNAPTP2;FLJ90504 DNA polymerase-transactivated protein 2;E3 ubiquitin-protein ligase RNF149;OTTHUMP00000161272;OTTHUMP00000202985 protein-coding ENSG00000163162 HGNC:23137 11513 VALIDATED 1605715 RNF14 ring finger protein 14 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Six alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq, Jan 2011] 5 5 5 q23.3-q31.1 137423564 137445843 + 141346402 141369856 + 141966837 141990291 + 6480464 10085091;10320776;11322894;11673464;11779876;12163482;12477932;12612084;12772188;14702039;15231748;15489334;15572661;15604093;15805579;15831516;17082327;17110431;17510080;17919607;18029348;19345326;19549727;19690564;21139048;21890473;21906983;21963094;22493164;22990118;23105109;23449499;24250222;24422631;24816145;9853615 9604 B7Z229;B7Z3J5;D6R988;D6R996;D6RA38;D6RAS4;D6RBK4;D6RBU3;D6RDK2;D6RDU6;E7EP22;Q9UBS8 AA418072;AB015333;AB022663;ABBA01026392;AC005740;AF060544;AK023698;AK023884;AK057868;AK129515;AK294262;AK295965;AMYH02012352;AW162926;AX883344;BC126185;BC144061;BE042895;BX647955;CB997918;CD106708;CH471062;CR456702;DB456366;DC358984;DC396586;DC402536;NM_001201365;NM_004290;NM_183398;NM_183399;NM_183400;NM_183401;XM_005268536;XM_005268537;XM_005268538;XM_005268539;XM_005268540;XM_005268541;XM_005268542;XM_005268543 AAD21842;AAI26186;AAI44062;BAA34792;BAA78677;BAG51217;BAG51234;BAH11715;BAH12231;CAE91936;CAG32983;EAW61894;EAW61895;EAW61896;EAW61897;NP_001188294;NP_004281;NP_899645;NP_899646;NP_899647;NP_899648;Q9UBS8;XP_005268593;XP_005268594;XP_005268595;XP_005268596;XP_005268597;XP_005268598;XP_005268599;XP_005268600 Hs.483616 1649784;1694504;2169391;2171249;2183160;5015619;5015861;5022651;5037552;5109281;7185938 D10S16;D11S2921;D11S3114;D1S1425;D8S2279;G42992;RH17835;RH65859;SGC31927;WI-17093 ARA54;FLJ26004;HFB30;HRIHFB2038;TRIAD2 E3 ubiquitin-protein ligase RNF14;OTTHUMP00000160065;OTTHUMP00000160066;androgen receptor associated protein 54;androgen receptor-associated protein 54 APPROVED protein-coding ENSG00000013561 HGNC:10058 05745 605675 REVIEWED 1319576 RNF151 ring finger protein 151 ENCODES a protein that exhibits ubiquitin-protein transferase activity (inferred); zinc ion binding (inferred); INVOLVED IN cell differentiation (inferred); protein ubiquitination (inferred); spermatogenesis (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; 17alpha-ethynylestradiol (ortholog); 2,2',5,5'-tetrachlorobiphenyl (ortholog) 16 16 16 p13.3 2229054 2231155 + 2016843 2018976 + 1966838 1968975 + 737633;6480464 12477932 15489334;21832049;22992278 146310 H3BNJ8;Q2KHN1 ABBA01030285;AC005363;AMYH02031241;BC029501;BC113014;HC007260;NM_174903;XM_005255129 AAH29501;AAI13015;CBH19435;NP_777563;Q2KHN1;XP_005255186 Hs.99354 1678435 RH92440 MGC129921 protein-coding ENSG00000179580 HGNC:23235 PROVISIONAL 1322589 RNF150 ring finger protein 150 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; all-trans-retinoic acid 4 4 4 q31.21 139117485 139385356 - 141786708 142054630 - 140865554 141133475 - 6480464;8554872 10574462;12477932;14702039;15489334;15815621;19322201;19690564;20379614;23144326 57484 D6RIE5;Q9ULK6 AB033040;ABBA01069985;ABBA01069986;AC093905;AC096733;AC097475;AK130520;AMYH02010216;AMYH02010217;AMYH02010218;BC101992;CH471056;NM_020724;XM_005263150 AAI01993;BAA86528;BAC85369;EAX05090;NP_065775;Q9ULK6;XP_005263207 Hs.659104 1335675;1342129;1651539;1658243;1670652;1705202;1714349;1715955;1754913;1785116;2116442;2116444;2124501;2150746;2152318;2170707;7186003;7186335;7187090 D4S1297;D4S1565;D4S192;D4S2812;D4S3314;G16704;G34522;RH119954;RH122720;RH41779;SHGC-141842;SHGC-155320;SHGC-23687;SHGC-50203;SHGC-80055;STS-N22353 MGC125502 OTTHUMP00000220139;OTTHUMP00000220140;OTTHUMP00000220141;OTTHUMP00000220142;OTTHUMP00000220143 protein-coding ENSG00000170153 HGNC:23138 15258 VALIDATED 1313171 RNF152 ring finger protein 152 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein K48-linked ubiquitination; FOUND IN lysosome; INTERACTS WITH all-trans-retinoic acid; arsenite(3-); dimethyl sulfoxide 18 18 18 q21.33 56201350 56279446 - 59475300 59561634 - 61808067 61894401 - 1580863;6480464 12477932;14702039;15489334;19240061;19690564;21203937;21988832 220441 K7EMG3;Q8N8N0 ABBA01056188;AC105094;AC105183;AK096495;AK122758;AMYH02034862;AMYH02034863;AMYH02034864;BC071787;BC094004;BC111956;CH471096;NM_173557;XM_005266650;XM_005266651;XM_005266652;XM_005266653;XM_005266654 AAH94004;AAI11957;BAC04805;BAG53711;EAW63114;EAW63115;NP_775828;Q8N8N0;XP_005266707;XP_005266708;XP_005266709;XP_005266710;XP_005266711 Hs.165062;Hs.667457 1754615;2128063;2131977;2171689;5093842;5493317 A009X36;G32957;RH16283;SHGC-132954;SHGC-57965;UniSTS:485685 FLJ39176;MGC138161 E3 ubiquitin-protein ligase RNF152;OTTHUMP00000163663 protein-coding HGNC:26811 11514 VALIDATED 6770178 RNF144A-AS1 RNF144A antisense RNA 1 2 2 2 p25.2 6965343 6971749 - 7052407 7058813 - 6912276 6918682 - 14702039 386597 ABBA01023896;AC017076;AK057135;AK090737;AMYH02003227;NR_033997 Hs.559010 1721285;5015961;5016700;5022322;5037552 D11S2560;D15S1477;D8S2279;G59639;RH79802 APPROVED ncrna ENSG00000228203 HGNC:30963 VALIDATED 6767072 RNF157-AS1 RNF157 antisense RNA 1 INTERACTS WITH valproic acid 17 17 17 70730545 70744636 + 74136637 74150729 + 76140556 76154648 + 6480464 14702039 100507218 ABBA01028754;AC018665;AI146336;AK093500;AMYH02034007;HG509459;HG509460;HG509461;HG509462;HG509463;NR_040017 Hs.654866 1698408;1850035;2167090;2168011 RH102746;RH18286;RH46108;SHGC-53715 RP11-449J21.5 APPROVED ncrna ENSG00000267128 HGNC:44127 VALIDATED 1348356 RNF157 ring finger protein 157 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenous acid; copper atom; copper(0) 17 17 17 q25.1 70732442 70830317 - 74138534 74236448 - 76142453 76240367 - 1580863;6480464;8554872 11572484;12477932;14702039;19690564;19913121;20379614;20628086;20800603 114804 K7EKB4;K7ENU4;K7ER42;Q96PX1 AA932192;AB067504;ABBA01028754;AC015801;AC018665;AK055949;AK091467;AMYH02034007;BC004231;BC042501;BI857136;BM474134;CH471099;CX872674;NM_052916;XM_005257007;XM_005257009;XM_006721660;XM_006721661;XM_006721662 AAH04231;AAI66675;BAB67810;BAB71053;BAC03669;EAW89378;EAW89379;EAW89380;EAW89381;EAW89382;NP_443148;Q96PX1;XP_005257064;XP_005257066;XP_006721723;XP_006721724;XP_006721725 Hs.500643 1698408;1776635;1850035;2117790;2167090;2168011;5015619;5022200;5037552 D11S3114;D8S2279;G18009;L18426;RH102746;RH18286;RH46108;RH71390;SHGC-53715 OTTHUMP00000163467 protein-coding ENSG00000141576 HGNC:29402 15259 VALIDATED 1351592 RNF166 ring finger protein 166 ENCODES a protein that exhibits zinc ion binding (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 17alpha-ethynylestradiol (ortholog); caffeine (ortholog) 16 16 16 q24.3 73832574 73842523 - 88762903 88772829 - 88696495 88706421 - 737633;1580863;6480464 12477932 14702039;15489334;16344560;19549727;19690564;21139048;21890473;22493164;23000965;23105109 115992 H3BPZ9;H3BQ58;H3BTX7;Q96A37 ABBA01015843;AC138028;AI800509;AK026860;AK057106;AK057201;AK290920;AMYH02032643;BC013948;BC017226;BI911983;CH471184;DA376321;NM_001171815;NM_001171816;NM_178841;XM_005256276;XM_005256277;XM_005256278 AAH13948;AAH17226;ADR82770;BAB71380;BAF83609;BAG51865;EAW66781;EAW66782;EAW66783;EAW66784;EAW66785;EAW66786;NP_001165286;NP_001165287;NP_849163;Q96A37;XP_005256333;XP_005256334;XP_005256335 Hs.513804 1737829 D11S3442 MGC14381;MGC2647 OTTHUMP00000175194 protein-coding ENSG00000158717 HGNC:28856 15260 VALIDATED 1343595 RNF165 ring finger protein 165 Encoded in regions involved in pericentric inversions in patients with bipolar affective disorder. [provided by RefSeq, Jul 2008] 18 18 18 q21.1 40721612 40848199 + 43906772 44041159 + 46334224 46461196 + 6480464 12477932;14702039;15722956;16344560;19690564;20379614;8889548 494470 K7EIS4;K7ELT0;K7EPZ9;K7EQ96;Q6ZSG1 ABBA01022319;ABBA01022320;AC015959;AC018931;AK055997;AK074561;AK091537;AK096648;AK122819;AK123883;AK127467;AMYH02034658;AMYH02034659;AMYH02034660;AW160725;BC012190;BK005135;BM680948;CH471088;DA077941;KF456393;NM_001256758;NM_152470;NR_046357;XM_006722480 BAC86992;BAG53743;DAA05330;EAX01474;EAX01475;NP_001243687;NP_689683;Q6ZSG1;XP_006722543 Hs.501114 1341633;1724953;1734556;7185363 D18S72;D18S914E;RH119246 ARKL2;FLJ34218;RNF111L2 APPROVED protein-coding ENSG00000141622 HGNC:31696 VALIDATED 1348849 RNF167 ring finger protein 167 RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).[supplied by OMIM, Mar 2008] 17 17 17 p13.2 4858441 4863328 + 4843328 4848517 + 4940033 4945222 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;15498874;16314844;17353931;19549727;19690564;21139048;21890473;21906983;21963094;21987572;22053931;22505724;23000965;23129617;23353890;24387786 26001 I3L0L6;I3L0V7;I3L1K4;I3L2D4;I3L2Y3;I3L462;K7EN24;Q9H6Y7 ABBA01054784;AC004771;AC109333;AK025329;AL050060;AL079315;AL834284;AMYH02032837;AY203930;AY960626;BC010139;BC013222;CH471108;CR457340;NM_015528;XM_005256597;XM_005256598;XM_005256599;XM_005256601;XM_005256602;XM_005256603;XM_006721499;XM_006721500;XM_006721501;XM_006721502 AAH10139;AAP34453;BAB15113;CAB43253;CAB45281;CAD38958;CAG33621;EAW90385;EAW90386;EAW90387;EAW90388;NP_056343;Q9H6Y7;XP_005256654;XP_005256655;XP_005256656;XP_005256658;XP_005256659;XP_005256660;XP_006721562;XP_006721563;XP_006721564;XP_006721565 Hs.7158 1681566;2109763;2191081 MARC_14421-14422:1010075686:1;RH12586;RNF167_9446 5730408C10Rik;DKFZp566H073;LP2254;RING105 E3 ubiquitin-protein ligase RNF167;OTTHUMP00000125245 APPROVED protein-coding ENSG00000108523 HGNC:24544 15261 610431 PROVISIONAL 1602283 RNF169 ring finger protein 169 ENCODES a protein that exhibits K63-linked polyubiquitin binding; nucleosome binding; INVOLVED IN cellular response to DNA damage stimulus; negative regulation of double-strand break repair; ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular membrane-bounded organelle; nucleoplasm; nucleus; INTERACTS WITH potassium dichromate; valproic acid; aflatoxin B1 (ortholog) 11 11 11 q13.4 71766783 71860010 + 74459913 74553458 + 74748868 74842413 + 6480464;8554872 12056414;15302935;16751776;16964243;17081983;19471022;21252943;21693764;21890473;21963094;21987572;22492721;22505724;22733822;22742833;23602568;8889548 254225 H0YEQ1;Q8NCN4 AB082522;ABBA01017477;ABBA01017478;ABBA01017479;ABBA01017480;AMYH02025110;AMYH02025111;AP000560;AP001324;BU735906;BX640750;DQ580376;DQ600280;KC877428;NM_001098638 AAI69205;BAC02700;CAE45858;NP_001092108;Q8NCN4 Hs.370145;Hs.745050 1644329;1649388;1650675;1656321;1775687;1848059;1902214;2111184;2167804;2180912;2181426;2184172;2184174 D11S1380E;D11S2255E;D11S2458;D11S3966;REN21910;RH17472;RH18485;RH35834;RH45943;SGC34365;SGC38235;STS-R11335;WI-17967 KIAA1991 E3 ubiquitin-protein ligase RNF169;OTTHUMP00000230122 protein-coding ENSG00000166439 HGNC:26961 VALIDATED 8548155 RNF152P1 ring finger protein 152 pseudogene 1 9 9 9 5343997 5344602 - 5418371 5418976 - 5418371 5418976 - 100419687 ABBA01065413;AL135786;AMYH02019084;NG_023780 pseudo HGNC:49743 INFERRED 1347950 RNF168 ring finger protein 168, E3 ubiquitin protein ligase This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011] 3 3 3 q29 194777591 194812751 - 196195654 196230639 - 196468783 196503768 - 737633;6480464;7240710;8554872;8699517;8661232;8661237 12477932;21533982;24326623 14702039;15231748;15489334;16499958;18781797;19203578;19203579;19500350;19690564;20016603;20023648;20075863;20080757;20081839;20682791;20725033;21041483;21139048;21252943;21412056;21552324;21664912;21698222;21784059;21857671;21890473;21897333;21906983;21963094;22266820;22373579;22492721;22505724;22508508;22589545;22713238;22742833;22884692;22939629;22980979;23000965;23055523;23255131;23264744;23525009;23615962;24196443;24217620;24240613;24324146;24634510;24732096;24816145 165918 F8WD60;Q8IYW5 ABBA01033741;AC092933;AC117490;AK054732;AK093113;AK097068;AMYH02008487;AMYH02008488;BC017442;BC029433;BC033791;BC047483;CH471191;NG_023425;NM_152617 AAH33791;BAB70801;BAC04060;EAW53649;EAW53650;EAW53651;NP_689830;Q8IYW5 Hs.250648 1697012;5017433 RH101981;STS-T76997 FLJ35794;FLJ39749;hRNF168 E3 ubiquitin-protein ligase RNF168;OTTHUMP00000208312 APPROVED protein-coding ENSG00000163961 HGNC:26661 08190 611943;612688 REVIEWED 1348165 RNF148 ring finger protein 148 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH paracetamol (ortholog); potassium dichromate (ortholog) 7 7 7 q31.33 117146021 117147322 - 122341720 122343021 - 122701666 122702967 - 1580863;6480464;8554872 12477932;12690205;14702039;15489334;24089095;8744354 378925 C9JVJ0;Q8N7C7 ABBA01057744;AC004594;AC006009;AC006463;AC015983;AC091438;AK058116;AK098654;AMYH02016676;BC029264;CH236947;CH471070;NG_016215;NM_198085;XM_005250333 AAH29264;BAC05367;EAL24340;EAW83578;EAW83579;NP_932351;Q8N7C7;XP_005250390 Hs.675191 2132732 D7S731 MGC35222 OTTHUMP00000211456;goliath-related E3 ubiquitin ligase 3-like protein-coding ENSG00000235631 HGNC:22411 11512 VALIDATED 1352237 RNF170 ring finger protein 170 This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] 8 8 8 p11.21 41652777 41700691 - 42704780 42751866 - 42849637 42896723 - 737633;1580863;6480464;7240710;8554872;8699517 12477932 11230166;14702039;15489334;16344560;18187620;19690564;21115467;21610068;21890473;23000965;24250222;8125298 81790 E9PNG8;E9PP55;Q96K19 AA973979;ABBA01021173;ABBA01021174;ABBA01021175;AC009634;AC087533;AF209504;AK027748;AK090864;AK095625;AK225086;AK225568;AL136620;AMYH02017910;AMYH02017911;AMYH02017912;BC013422;BC032393;BC039461;BC044566;BC058289;BG910500;CH471080;CS072283;DA751961;NG_032868;NM_001160223;NM_001160224;NM_001160225;NM_030954;NR_027668;NR_027669;XM_006716404;XM_006716405;XM_006716406;XM_006716407 AAH13422;AAH32393;AAH39461;AAH44566;AAM92891;ACE86876;ACE87564;BAB55340;BAC03534;CAB66555;CAI93421;EAW63201;EAW63202;EAW63203;EAW63204;NP_001153695;NP_001153696;NP_001153697;NP_112216;Q96K19;XP_006716467;XP_006716468;XP_006716469;XP_006716470 Hs.491626 1335043;1655072;1739171;2111338;2186079;5022651;5037552 D11S2921;D8S1340E;D8S1555;D8S1791;D8S2120;D8S2279;SHGC-5737 ADSA;DKFZp564A022;FLJ38306;SNAX1 E3 ubiquitin-protein ligase RNF170;OTTHUMP00000229194;OTTHUMP00000229195;OTTHUMP00000229196;OTTHUMP00000229197;OTTHUMP00000229198;putative LAG1-interacting protein;sensory ataxia 1 (autosomal dominant) APPROVED protein-coding ENSG00000120925 HGNC:25358 13165 608984;614649 REVIEWED 1348737 RNF175 ring finger protein 175 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; trichostatin A; 2,6-dinitrotoluene (ortholog) 4 4 4 q31.3 151955799 152005874 - 154631312 154681387 - 153710160 153760235 - 737633;1580863;6480464 12477932 14702039;15489334;17207965;19773279;19913121;20628086;21048031 285533 D6RAJ1;D6RB06;D6RB46;D6RID2;Q8N4F7 ABBA01070142;ABBA01070143;ABBA01070144;AC020703;AC106865;AK091509;AMYH02010323;BC034385;CH471056;NG_016386;NM_173662;XM_005262938;XM_005262939;XM_005262940;XM_006714185 AAH34385;ADQ32349;BAC03680;EAX04950;EAX04951;NP_775933;Q8N4F7;XP_005262995;XP_005262996;XP_005262997;XP_006714248 Hs.388364 1671099;1743335;2120405;2124103;2124105;2124107;2136511;2145150;2188345;2188347 G66209;G66211;GDB:314973;SHGC-18913;SHGC-24771;SHGC-50326;SHGC-59635;SHGC-67265;SHGC-67621;WI-22079 FLJ34190 OTTHUMP00000220367 protein-coding ENSG00000145428 HGNC:27735 15262 VALIDATED 1602715 RNF181 ring finger protein 181 RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008] 2 2 2 p11.2 85651121 85653115 + 85822391 85824831 + 85595268 85597708 + 6480464 11042152;12477932;15075326;16712791;17207965;18331836;19426595;19690564;21139048;21391225;21743467;21988832;22493164;24811749;8125298 51255 C9J1C6;C9J391;F8WBU5;H7C426;Q9P0P0 ABBA01075761;AC016753;AF151072;AK222700;AMYH02004184;BC002803;CB131242;CH471053;CR457165;NM_016494;XM_005264359 AAF36158;AAH02803;AAY24343;ADQ31794;BAD96420;CAG33446;EAW99504;EAW99505;NP_057578;Q9P0P0;XP_005264416 Hs.356187 HSPC238 E3 ubiquitin-protein ligase RNF181;OTTHUMP00000160685;OTTHUMP00000209531;OTTHUMP00000209532;hypothetical protein loc51255 APPROVED protein-coding HGNC:28037 14236 612490 VALIDATED 1603182 RNF183 ring finger protein 183 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; cadmium atom; copper(2+) sulfate 9 9 9 q32 86706988 86708935 - 116059373 116065554 - 113297093 113299732 - 6480464 12477932;14702039;15489334;16189514;21832049 138065 Q96D59 ABBA01042689;AK055759;AK091940;AL449305;AMYH02021509;BC013036;BE463594;CH471090;NM_145051;XM_006716952 AAH13036;ABM83500;ABM86716;EAW87364;EAW87365;EAW87366;NP_659488;Q96D59;XP_006717015 Hs.729641 FLJ31197;MGC4734 OTTHUMP00000215895;OTTHUMP00000215896;OTTHUMP00000215897 protein-coding ENSG00000165188 HGNC:28721 10082 VALIDATED 1351673 RNF182 ring finger protein 182 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein ubiquitination; FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 6 6 6 p23 15164452 15220041 + 13924677 13980240 + 13924446 13980009 + 737633;1580863;6480464 12477932 14702039;15489334;16344560;18029348;18298843;19322201;19690564;23349640 221687 C9IZ30;C9JAJ3;C9JAK6;C9JVS8;Q8N6D2 ABBA01022137;ABBA01022138;AK090576;AK098091;AK315528;AL138718;AMYH02013143;AMYH02013144;AW731636;BC030666;BC050030;CH471087;DA123125;DA803766;DB094450;DB176198;NM_001165032;NM_001165033;NM_001165034;NM_152737 AAH30666;AAH50030;ABM83364;ABM83370;ABM86574;ABM86575;BAC03481;BAG37909;EAW55349;EAW55350;NP_001158504;NP_001158505;NP_001158506;NP_689950;Q8N6D2 Hs.111164 1340381;1684333;1750617 D6S2434;RH92558;SHGC-111909 FLJ40772;MGC33993 E3 ubiquitin-protein ligase RNF182;OTTHUMP00000215754;OTTHUMP00000215755;OTTHUMP00000215756;OTTHUMP00000215757;OTTHUMP00000215758 protein-coding ENSG00000180537 HGNC:28522 15264 VALIDATED 5683646 RNF185-AS1 RNF185 antisense RNA 1 q12.2 12477932 100852405 AC002073;BC069286 Hs.517553 APPROVED ncrna HGNC:41161 1601756 RNF186 ring finger protein 186 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 1 1 1 p36.13 18467352 18468601 - 20140522 20141771 - 19814029 19815278 - 6480464 12477932;14702039;15489334;16710414;19122664;19690564;20228799;22797925;23511034;23896122;24068945;8125298 54546 Q9NXI6 ABBA01059769;AK000232;AK222991;AL391883;AMYH02000423;BC030960;BC051880;CH471134;CR457228;NM_019062 AAH30960;AAH51880;BAA91024;BAD96711;CAG33509;EAW94904;NP_061935;Q9NXI6 Hs.124835 FLJ20225;RP11-91K11.1 OTTHUMP00000002793 protein-coding ENSG00000178828 HGNC:25978 07885 PROVISIONAL 1321415 RNF17 ring finger protein 17 This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010] 13 13 13 q12.12 6401565 6517327 + 25338301 25454059 + 24764152 24888284 + 1580863;6480464;8554872 10961928;11279525;12477932;14702039;19690564;21515969 56163 B7Z7S1;Q5T2J8;Q5T6R1;Q9BXT8 ABBA01007894;ABBA01007895;ABBA01007896;ABBA01007897;AF285602;AF285603;AK001907;AK302405;AK302435;AL354798;AL391560;AMYH02027710;AMYH02027711;AMYH02027712;AMYH02027713;AMYH02027714;BC037275;BC064847;BC146822;CD358307;CH471075;DB517763;HC007262;HC044683;NM_001184993;NM_031277;XM_005266473;XM_006719846;XM_006719847;XM_006719848;XM_006719849;XM_006719850;XM_006719851;XM_006719852;XM_006719853 AAH64847;AAI66669;AAK31981;AAK31982;BAA91972;BAH13698;BAH13707;CBH19436;CBH30671;EAX08347;EAX08348;NP_001171922;NP_112567;Q9BXT8;XP_005266530;XP_006719909;XP_006719910;XP_006719911;XP_006719912;XP_006719913;XP_006719914;XP_006719915;XP_006719916 Hs.97464 1660515;1664982;1681410;1725103;5020625 D13S1650;G65799;RH118849;RH98638;SHGC-7158 FLJ11045;Mmip-2;SPATA23;TDRD4 OTTHUMP00000018141;spermatogenesis associated 23;tudor domain containing 4;tudor domain-containing protein 4 APPROVED protein-coding ENSG00000132972 HGNC:10060 05779;15482 605793 REVIEWED 1602840 RNF185 ring finger protein 185 ENCODES a protein that exhibits ligase activity (inferred); zinc ion binding (inferred); INVOLVED IN autophagy (inferred); protein ubiquitination (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); mitochondrial outer membrane (inferred); INTERACTS WITH 17beta-estradiol; calcitriol; methyl methanesulfonate 22 22 22 q12.2 15356214 15403106 + 31556138 31603005 + 31160152 31207019 + 6480464 12477932;14702039;15461802;15489334;16344560;17558393;19549727;21139048;21832049;21890473;21906983;21931693;21963094;22053931;22505724;23000965;23105109;23898208;24019521;24727453 91445 B4DMD6;Q96GF1 AA258379;ABBA01055322;ABBA01055323;ABBA01055324;AC002073;AC005005;AK027035;AK075154;AK095947;AK291236;AK297414;AMYH02038232;AMYH02038233;BC009504;BC012817;BC017302;BC026040;BC033166;BC035684;BX648019;CH471095;CQ834442;CQ834548;CR456349;DA498404;DB134817;DQ296559;DQ296560;DQ296561;DQ296562;DQ296563;DQ296564;DQ296565;NM_001135825;NM_152267;NR_024209;NR_024210;NR_024211;NR_024212;XM_006724373;XM_006724374 AAH09504;AAH12817;AAH26040;AAH33166;AAH35684;ABB97506;ABB97507;ABB97508;ABB97509;ABB97510;ABB97511;ABB97512;BAC04659;BAF83925;BAG59848;CAG30235;CAH05436;CAH05489;CAK54490;CAK54789;EAW59943;EAW59944;EAW59945;EAW59946;EAW59947;EAW59948;EAW59949;EAW59950;EAW59951;EAW59952;EAW59953;NP_001129297;NP_689480;Q96GF1;XP_006724436;XP_006724437 Hs.517553 1646702;1679241;1784540;1850879;2148080;2220366 AL022542;D4S3181;SHGC-171991;SHGC-67789;SHGC-8629;UniSTS:480808 FLJ38628 BSK65-MONO1;BSK65-MONO2;BSK65-PANC1;BSK65-PANC2;BSK65-TEST1;BSK65-TEST2;BSK65-TEST3;E3 ubiquitin-protein ligase RNF185;OTTHUMP00000199492;OTTHUMP00000199493;OTTHUMP00000227602 protein-coding ENSG00000138942 HGNC:26783 08790 VALIDATED 1606704 RNF187 ring finger protein 187 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN positive regulation of transcription, DNA-templated; proteasome-mediated ubiquitin-dependent protein catabolic process; protein autoubiquitination; FOUND IN cytoplasm; nucleus; INTERACTS WITH cadmium atom; coumestrol; cyclosporin A 1 1 1 q42.13 201864899 201873720 + 228674277 228697598 + 228487367 228496188 + 6480464 12477932;15231747;15489334;16710414;18781797;20852630;21145461;21906983;21963094;23624934;24057671 149603 Q5TA31;Q9BVY4 ABBA01005838;AI269201;AL139288;AMYH02002846;AMYH02002847;BC000821;BC008022;BC012758;BC015435;BC039872;BC053571;BC064481;BC080645;BI551408;NM_001010858 AAH00821;AAH12758;AAH64481;NP_001010858;Q5TA31 Hs.356377;Hs.679030 1672040;1765541;1772520 SHGC-149012;SHGC-76455;WI-15884 RACO-1;RACO1 E3 ubiquitin-protein ligase RNF187;OTTHUMP00000037944;RING domain AP1 coactivator 1 protein-coding HGNC:27146 613754 VALIDATED 1313515 RNF19B ring finger protein 19B This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 2014] 1 1 1 p35.1 31670681 31698914 - 33402050 33430467 - 32933864 32964872 - 737633;6480464 12477932 10438909;10912506;14702039;15489334;16196087;16709802;19915045;21139048;21382349;21890473;22939624;23085241;23269922;24250222;8889549 127544 Q6ZMZ0 AA194237;ABBA01023388;ABBA01023389;AK074486;AK131439;AL031602;AMYH02000724;AMYH02000725;BC020595;BC062374;BC113560;BC143687;CH471059;CQ782409;DA630289;NM_001127361;NM_001300826;NM_153341;XM_005270460;XM_006710356;XM_006710357;XM_006710358 AAH20595;AAH62374;AAI13561;AAI43688;BAC11017;BAD18585;CAF85699;EAX07489;EAX07490;EAX07491;NP_001120833;NP_001287755;NP_699172;Q6ZMZ0;XP_005270517;XP_006710419;XP_006710420;XP_006710421 Hs.591504 1682273;1695990;1705430;1718749;1850633;1852093;2128341;5491531 D1S1551;MARC_17137-17138:1021047780:1;RH123063;RH98813;SHGC-74554;SHGC-74556;SHGC-82738;SHGC-83795 FLJ90005;IBRDC3;NKLAM E3 ubiquitin-protein ligase RNF19B;IBR domain containing 3;IBR domain-containing protein 3;OTTHUMP00000004133;OTTHUMP00000035903;OTTHUMP00000234307;natural killer lytic-associated molecule APPROVED protein-coding ENSG00000116514 HGNC:26886 13725 610872 REVIEWED 3322042 RNF19BPY ring finger protein 19B pseudogene, Y-linked Y Y 3646038 3647587 - 3777997 3779546 - 100419722 ABBA01069810;AC012078;NG_021906 pseudo HGNC:38398 INFERRED 1347772 RNF180 ring finger protein 180 ENCODES a protein that exhibits ligase activity (inferred); ubiquitin conjugating enzyme binding (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN adult behavior (inferred); norepinephrine metabolic process (inferred); positive regulation of proteasomal ubiquitin-dependent protein catabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); intrinsic component of endoplasmic reticulum membrane (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; potassium chromate 5 5 5 q12.3 60458571 60665603 + 63461671 63668704 + 64165306 64372877 + 6480464;8554872 11076863;11230166;12477932;14702039;15489334;15489336;16344560;16381901;18363970;20379614;21717426;22563461;23503679 285671 D6RE88;Q86T96 ABBA01048341;ABBA01048342;ABBA01048343;AC016623;AC092360;AK090756;AL832580;AMYH02011408;AMYH02011409;AMYH02011410;BC101277;BC101278;BC101279;BC101397;CH471137;DA183707;DA809479;KC876991;NM_001113561;NM_178532;XM_006714589;XM_006714590;XM_006714591 AAI01278;AAI01279;AAI01280;AAI01398;BAC03514;CAD89939;CAL38421;EAW51373;EAW51374;EAW51375;NP_001107033;NP_848627;Q86T96;XP_006714652;XP_006714653;XP_006714654 Hs.657843 1337887;1341433;1665659;1683291;1849658;2172377 D5S1359;D5S668;RH92875;SHGC-30782;SHGC-34946;WI-14912 MGC120326;MGC120328;RINES E3 ubiquitin-protein ligase RNF180;OTTHUMP00000221817;OTTHUMP00000221818;OTTHUMP00000221819 protein-coding ENSG00000164197 HGNC:27752 15263 616015 VALIDATED 1317214 RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 8 8 8 q22 97454658 97507698 - 101269285 101348446 - 100257057 100336218 - 6480464;8554872 10976766;11237715;12145308;12477932;12750386;12875980;14611647;14702039;15030390;15456787;15489334;16344560;16513638;17157513;17666395;18721867;19517565;21041692;21139048;21890473;21900206;22082156;22493721;24250222 25897 A3KCU8;E5RJH6;E7EQ63;E7EQV8;E7ETB2;Q9NV58 AB029316;AB271913;ABBA01037567;AC025647;AJ242975;AK023455;AK027070;AK057699;AL110253;AL122096;AL708565;AMYH02018504;AP001574;BC043648;BC062676;BC093938;BC093940;BC105300;BQ003778;CH471060;DA502897;DB037264;DB061830;NM_001280539;NM_015435;NM_183419;XM_005250853;XM_005250854 AAH43648;AAH93938;AAH93940;AAI05301;BAB14581;BAB15647;BAB39353;BAF48116;CAB45132;CAB53700;CAB59264;EAW91807;NP_001267468;NP_056250;NP_904355;Q9NV58;XP_005250910;XP_005250911 Hs.292882 1682107;1796708;2111920;2128578;2137717;2177679;5017648 D3S4097;D8S1650;RH18438;RH92127;RNF19;RNF19_801;SHGC-37498 DKFZp566B1346;RNF19 DORFIN;E3 ubiquitin-protein ligase RNF19A;OTTHUMP00000227271;OTTHUMP00000227364;RING finger protein 19 isoform;double ring-finger protein;p38 protein;protein p38 interacting with transcription factor Sp1;ring finger protein 19;ring finger protein 19A, E3 ubiquitin protein ligase;ring-IBR-ring domain containing protein Dorfin APPROVED protein-coding ENSG00000034677 HGNC:13432 06176 607119 REVIEWED 1323649 RNF20 ring finger protein 20, E3 ubiquitin protein ligase The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this protein also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 2012] 9 9 9 q22 74810388 74839881 + 104296131 104325626 + 101533849 101563344 + 6480464;8661225;8554872 23532176 10954754;10975868;11086069;11145718;12477932;12535538;12535539;12876294;12938929;14702039;15164053;15302935;15489334;15635413;16307923;16337599;16344560;16713563;17148452;17550899;18299561;18685082;18832071;19037095;19410543;19471022;19596235;19850743;19946338;20738173;21139048;21329877;21362548;21362549;21443952;21596312;21811414;21827756;21890473;21906983;21987572;22021426;22053931;22155569;22231558;22354749;22558309;22863883;22939629;23000965;23125841;23275563;23412334;23444366;23718855;23785282;24357716;24526689;24600005;24816145;24837678 56254 C9J0A5;C9JWJ4;C9JXC9;Q5VTR2 ABBA01042872;AF247268;AF265230;AF283791;AF305515;AK000389;AK000697;AK002051;AK022300;AK022532;AK314401;AL353621;AL591377;AL832910;AL834272;AMYH02021355;AY006321;BC016691;BC032618;BC063115;BC110584;BC110585;BC152309;CH471105;DB273543;NM_019592 AAG15824;AAG21410;AAG24713;AAG44865;AAH16691;AAH32618;AAH63115;AAI10585;AAI10586;AAI52310;AAK58539;BAA91134;BAA91326;BAA92057;BAB14005;BAB14081;BAG37025;CAD38947;CAH10630;EAW58955;EAW58956;EAW58957;NP_062538;Q5VTR2 Hs.729085 1764359;1798102;2190873 MARC_10117-10118:1001521849:1;RNF20_803;SHGC-147959 BRE1;BRE1-A;BRE1A;FLJ11189;FLJ20382;KIAA2779;MGC129667;MGC129668;hBRE1 BRE1 E3 ubiquitin ligase homolog;E3 ubiquitin-protein ligase BRE1A;OTTHUMP00000215919;homolog of S. cerevisiae BRE1;nm_rev: NM_019592.5 was updated to version 4 to extend the 5' UTR. No other changes were needed. APPROVED protein-coding ENSG00000155827 HGNC:10062 07410 607699 REVIEWED 1603720 RNF208 ring finger protein 208 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein autoubiquitination; INTERACTS WITH cadmium atom; hydroquinone O-beta-D-glucopyranoside; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q34.3 1 1027 + 140114699 140115775 - 137220247 137221323 - 6480464 11230166;11256614;12477932;16189514;22493164;8889548 727800 Q9H0X6 ABBA01022749;AF416715;AI880121;AL136540;AMYH02021926;BC016958;BX255925;BX343138;CB241964;DN995061;NM_031297 AAH16958;AAL16809;CAB66475;NP_112587;Q9H0X6 Hs.512767 DKFZp761H1710;MGC88636 OTTHUMP00000162589 protein-coding ENSG00000212864 HGNC:25420 13182 VALIDATED 3322041 RNF19BPX ring finger protein 19B pseudogene, X-linked X X X 89942008 89942531 - 89463867 89465427 - 90208868 90210428 - 100419788 AL121873;AMYH02039940;NG_022619 RNF19BX pseudo HGNC:38484 INFERRED 1604957 RNF212 ring finger protein 212 This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] 4 4 4 p16.3 1001205 1042016 - 1050039 1107352 - 1056251 1113794 - 6480464;8554872 12477932;14702039;15340062;15489334;16344560;18239089;19322201;19763160;21890473;23396135 285498 D6R9L2;D6RA97;Q495C1 ABBA01019355;ABBA01019356;ABBA01019357;AC019103;AC092535;AK096160;AK124578;AK310043;AMYH02008568;AMYH02008569;AMYH02008570;AMYH02008571;AMYH02008572;BC036250;BC050356;BC101258;BC101259;BC101260;BC101261;BG701603;BI460105;CH471131;DB159979;NG_027812;NM_001131034;NM_001193318;NM_194439;XM_005272274;XM_005272275;XM_006713877;XM_006713878;XR_246609;XR_246610 AAH36250;AAH50356;AAI01259;AAI01260;AAI01261;AAI01262;BAC04714;EAW82610;EAW82611;EAW82612;EAW82613;EAW82614;NP_001124506;NP_001180247;NP_919420;Q495C1;XP_005272331;XP_005272332;XP_006713940;XP_006713941 Hs.248290 1338572;1718397;1720869;1846737;2135843;2146997;2149228;5019118;5037552 D4S2716;D4S3038;D4S992;D8S2279;G34198;G59262;RH102035;RH122973;SHGC-51507 FLJ38841;FLJ42587;MGC120227;MGC120228;ZHP3 OTTHUMP00000147525;OTTHUMP00000217464;OTTHUMP00000217466;probable E3 SUMO-protein ligase RNF212 APPROVED protein-coding ENSG00000178222 HGNC:27729 14158 612041;612042 REVIEWED 1606686 RNF215 ring finger protein 215 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 22 22 22 q12.2 14574485 14582986 - 30774801 30783302 - 30378812 30387313 - 6480464 9847074 200312 C9JDL7;H0Y2L4;H7C0R1;Q9Y6U7 ABBA01055293;ABBA01055294;ABBA01055295;AC004997;AK293904;AMYH02038214;AMYH02038215;BM476400;BM806918;BX494669;CH471095;NM_001017981 AAD43187;AAI48384;AAI53029;BAG57289;EAW59883;EAW59884;NP_001017981;Q9Y6U7 Hs.592194 1784536 SHGC-171917 OTTHUMP00000198947;OTTHUMP00000198948 protein-coding ENSG00000099999 HGNC:33434 18747 VALIDATED 1604189 RNF214 ring finger protein 214 ENCODES a protein that exhibits zinc ion binding (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); titanium dioxide (ortholog) 11 11 11 q23.3 114261063 114314064 + 117103341 117156404 + 117232625 117285688 + 6480464 12477932;15146197;15489334;18854154;21779381;21890473;22118674;22939629;23000965;24816145 257160 E9PN76;E9PRE9;Q8ND24 ABBA01039729;ABBA01039730;ABBA01039731;ABBA01039732;ABBA01039733;ABBA01039734;ABBA01039735;ABBA01039736;AK298923;AK300160;AL834448;AMYH02025629;AP000892;BC031347;BC064581;BC146891;BC146901;BX111206;CH471065;CN395747;DB457549;DC423629;NM_001077239;NM_001278249;NM_207343;XM_006718811;XM_006718812 AAI46892;AAI46902;BAG61028;BAG61943;CAD39108;EAW67306;EAW67307;NP_001070707;NP_001265178;NP_997226;Q8ND24;XP_006718874;XP_006718875 Hs.591934 1674127;1736174;1754097;1769026;2115802;2117593;2117595;2127579;2164459;2164461;5093878 A005A12;A005U47;A009Y15;D11S2277E;D11S2294E;D11S4635;G20259;G20524;G32977;RH12629;SHGC-132133 DKFZp547C195 OTTHUMP00000235002;OTTHUMP00000235003;OTTHUMP00000235004 protein-coding ENSG00000167257 HGNC:25335 16815 VALIDATED 1351712 RNF213 ring finger protein 213 This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 17 17 17 q25.3 74864699 74998227 + 78234643 78372586 + 80260844 80398786 + 737633;6480464;7240710;8554872 12477932 10737800;10754001;10997877;11181995;12112524;14702039;15489334;16196087;16625196;17974005;18187866;18318008;18669648;19454010;19608861;19946888;21048783;21080342;21139048;21282530;21647175;21799892;21906983;21988832;22190034;22377813;22505724;22878964;22931863;23010677;23110205;23118302;23769926;23850618;23956138;23970789;23994138;24658080;24816145 57674 I3L3H9;Q63HN8 AB046774;AB046838;AB537889;ABBA01015400;ABBA01015401;ABBA01015402;ABBA01015403;ABBA01015404;ABBA01015405;AC123764;AC124319;AF397204;AF397205;AK023113;AK023871;AK025676;AK025914;AK026038;AK074030;AK127358;AK127914;AL161961;AL832920;AL833201;AMYH02034102;AMYH02034103;AMYH02034104;AMYH02034105;AMYH02034106;BC032220;BC035987;BC036891;BC040341;BC110403;BI008697;BX097483;BX640932;BX647506;BX647946;CH471099;DW443658;KC877677;KF510430;NG_031980;NM_001256071;NM_020954;XM_005257545;XM_005257546;XM_006721995;XR_243676 AAH32220;AAH36891;AAH40341;AAI72594;AAN63520;AAN63521;BAB13380;BAB13444;BAB14411;BAB14708;BAB15212;BAB15280;BAB15330;BAB84856;BAC87188;BAK53191;CAE45967;CAH10615;CAH56189;CAH56308;EAW89593;EAW89594;EAW89595;EAW89596;EAW89597;EAW89598;EAW89599;EAW89600;NP_001243000;NP_066005;Q63HN8;XP_005257602;XP_005257603;XP_006722058 Hs.195642;Hs.740662;Hs.745415 1338539;1647058;1657311;1666867;1734532;1783536;1788970;2133398;2186091;5015861;5016268;5016478;5021872;5022578;5022588;5022651;5037552;7184453;7185938;7186445 D10S16;D11S2921;D17S1463E;D17S785;D17S836;D17S939;D1S1423;D5S1597E;D8S2279;G01830;G65561;GDB:434012;RH15895;RH35986;RH46154;SHGC-153553;SHGC-33067;SHGC-53147;sY3084 ALO17;C17orf27;DKFZp762N1115;FLJ13051;KIAA1554;KIAA1618;MGC46622;MGC9929;MYMY2;MYSTR;NET57 ALK lymphoma oligomerization partner on chromosome 17;E3 ubiquitin-protein ligase RNF213;OTTHUMP00000220197;chromosome 17 open reading frame 27;mysterin APPROVED protein-coding ENSG00000173821 HGNC:14539 10716 607151;613768 REVIEWED 6481056 RNF216-IT1 RNF216 intronic transcript 1 (non-protein coding) 7 7 5702063 5720092 - 5662432 5680461 - 100874342 AA825874;ABBA01039475;AC006483;AMYH02015147;HG499982;NR_046834 Hs.665728 AC006483.7 ncrna HGNC:41463 PREDICTED 1604006 RNF216 ring finger protein 216 This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 5619295 5780893 - 5659672 5821361 - 5620041 5781730 - 6480464;8699517;7240710;8554872 10422847;10527689;11076863;11230166;11256614;11854271;12477932;12600646;12853948;14702039;15107846;15231748;15367624;15489334;15489336;16169070;16341674;16381901;16968706;18029348;18854154;19149577;19690434;19893624;19913121;20628086;21139048;21270397;21693764;21890473;21906983;21963094;21987572;22505724;22990118;23000965;23656588;24945773;8076819;8889548 54476 A8K8N1;C9JIV3;F8W6D1;F8WDI8;Q9NWF9 ABBA01039473;ABBA01039474;ABBA01039475;ABBA01039476;ABBA01039477;AC006483;AC008167;AF228527;AF513717;AF513718;AK000916;AK024787;AK092767;AK123635;AK128551;AK292396;AK297231;AK297416;AK314332;AMYH02015146;AMYH02015147;AMYH02015148;AMYH02015149;AY062174;AY177396;AY177397;AY177398;BC000787;BC004947;BC063825;BM793093;BM970811;BM997118;BQ018569;BX537406;CH471144;NG_029374;NM_207111;NM_207116;XM_005249785;XM_006715748;XR_242090 AAF36723;AAH00787;AAH63825;AAL38043;AAO60361;AAO60362;AAO60363;AAP47174;AAP47175;AAS07532;BAA91422;BAF85085;BAG36978;BAG53927;BAG59714;BAG59849;CAD97648;CAL37508;CAL38564;EAW87347;EAW87348;EAW87349;NP_996994;NP_996999;Q9NWF9;XP_005249842;XP_006715811 Hs.487458;Hs.689456 1644031;1686064;1770409;1856127;2109995;5015619;5017987;5037552 Clen36;D11S3114;D8S2279;GDB:1318486;RH48964;RH91865;STS-D45621;TRIAD3_9789 CAHH;TRIAD3;U7I1;UBCE7IP1;ZIN E3 ubiquitin-protein ligase RNF216;OTTHUMP00000208114;OTTHUMP00000208116;triad domain-containing protein 3;ubiquitin conjugating enzyme 7 interacting protein 1;ubiquitin-conjugating enzyme 7-interacting protein 1;zinc finger protein inhibiting NF-kappa-B APPROVED protein-coding ENSG00000011275 HGNC:21698 15550 212840;609948 REVIEWED 2291759 RNF216P1 ring finger protein 216 pseudogene 1 INTERACTS WITH dioxygen 7 7 7 p22.1 4972970 4997152 + 5013616 5037800 + 4973985 4998169 + 6480464 11181995;11854271;12477932 441191 Q6NUR6 ABBA01039437;AC092032;AK124529;AK303831;AK308526;AK309798;AK311517;AMYH02015125;AW079602;BC026736;BC068459;BX538059;CH471144;DC357738;NR_015449;NR_023384;NR_023385 BAH14062;EAW87309;EAW87310;EAW87311;EAW87312;EAW87313;EAW87314;EAW87315;EAW87316 Hs.520636 1694684;1770409;5015861;7185938 D10S16;G43528;GDB:1318486 FLJ18559;FLJ98567;FLJ99839;RNF216L;hCG2040556 APPROVED pseudo ENSG00000196204 HGNC:33610 VALIDATED 8694030 RNF217-AS1 RNF217 antisense RNA 1 (head to head) 6 6 6 q22.33 125974395 126029171 - 125229389 125284173 - 124908243 124963027 - 16344560;9087565 7955 ABBA01025957;ABBA01025958;AL355296;AL356605;AL713649;AMYH02014426;AMYH02014427;AMYH02014428;HG499604;KF458272;NR_026876 Hs.544438 1766001 SHGC-149393 STL ncrna ENSG00000236548 HGNC:50866 602532 VALIDATED 1315678 RNF217 ring finger protein 217 ENCODES a protein that exhibits ubiquitin-protein transferase activity (ortholog); INVOLVED IN protein ubiquitination involved in ubiquitin-dependent protein catabolic process (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; trichostatin A 6 6 6 q22.31 126049522 126149701 + 125283680 125413779 + 124962532 125092633 + 1580863;6480464;8554872 12477932;14574404;14702039;15489334;18978678;20379614;20682791;21139048;21890473 154214 B3KVC8;E5RFY6;H0YB95;H0YKH8;H3BM17;Q8TC41 ABBA01025956;ABBA01025957;AK023584;AK057943;AK093417;AK122811;AL136128;AL355296;AMYH02014428;BC026087;CH471051;CO402490;NM_001286398;NM_152553;NR_104440;XM_006715350 AAH26087;BAG53740;EAW48149;EAW48150;EAW48151;EAW48152;EAW48153;EAW48154;NP_001273327;NP_689766;Q8TC41;XP_006715413 Hs.368639;Hs.656715 1339438;1716943;1737831 D11S3444;D6S1702;RH121851 C6orf172;IBRDC1;MGC26996;dJ84N20.1 IBR domain containing 1;IBR domain-containing protein 1;OTTHUMP00000017132;probable E3 ubiquitin-protein ligase RNF217 protein-coding ENSG00000146373 HGNC:21487 17125 VALIDATED 1354147 RNF219 ring finger protein 219 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 13 13 13 q31.1 60086863 60131755 - 79188421 79233314 - 78614281 78659179 - 6480464;8554872 11230166;12477932;14702039;15057823;15489334;16964243;17353931;19322201;20339536;20360068;20936779;21139048;21145461;21693764;21906983;22053931;23602568;23752268;24262325;24778252;24811749;24816145;8889548 79596 Q5W0B1 ABBA01021681;AK023511;AK098640;AL136651;AL139319;AL445209;AMYH02028332;AMYH02028333;BC028586;BC136764;BC136765;BI550796;BM674566;CH471093;CR936752;CR936754;CR936764;NM_024546;XM_006719865 AAI36765;AAI36766;BAB14594;CAB66586;EAW80586;EAW80587;EAW80588;NP_078822;Q5W0B1;XP_006719928 Hs.567576 1653514;1659986;2119492;2151628;2155617 D13S1437;D13S1666;RH78447;SGC30285;STS-H08200 C13orf7;DKFZp686A01276;DKFZp686N15250;DKFZp686O03173;FLJ13449;FLJ25774 OTTHUMP00000018536;chromosome 13 open reading frame 7 protein-coding ENSG00000152193 HGNC:20308 12619 615906 VALIDATED 6481174 RNF219-AS1 RNF219 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 13 13 78628990 79191460 + 78054855 78617325 + 8554872 14702039;21116278;24376456 100874222 ABBA01021672;ABBA01021673;ABBA01021674;ABBA01021675;ABBA01021676;ABBA01021677;ABBA01021678;ABBA01021679;ABBA01021680;ABBA01021681;AK095779;AL138957;AL161419;AL162852;AL391989;AL445209;AMYH02028324;AMYH02028325;AMYH02028326;AMYH02028327;AMYH02028328;AMYH02028329;AMYH02028330;AMYH02028331;AMYH02028332;BX647243;HG505755;HG505756;HG505761;HG505762;HG505764;KF455812;NR_047001 Hs.493062 1659986 SGC30285 POU4F1-AS1 APPROVED ncrna ENSG00000234377 HGNC:42700 VALIDATED 1347248 RNF212B ring finger protein 212B ENCODES a protein that exhibits zinc ion binding (inferred) 14 14 14 q11.2 3572254 3602270 + 23707127 23743494 + 23237918 23274285 + 11181995;12508121 100507650 A8MTL3;A8MVE6;G3V2N7;H0YJB3 ABBA01061317;ABBA01061318;AL049829;AL117258;AMYH02028867;AMYH02028868;CH471078;NM_001282322 A8MTL3;EAW66179;EAW66180;NP_001269251 1730024;1753775;2136544;2145495 D14S1430;D4S136;G36138;SHGC-89225 C14orf164 RING finger protein C14orf164;RING finger protein C14orf164-like APPROVED protein-coding HGNC:20438 PROVISIONAL 2299989 RNF222 ring finger protein 222 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); cadmium dichloride (ortholog); titanium dioxide (ortholog) 17 17 17 p13.1 8324826 8331947 - 8294022 8301144 - 8390704 8397826 - 6480464 16344560;16625196;24457600;8889548 643904 A6NCQ9 ABBA01054917;AC026130;AMYH02032923;CA944854;NM_001146684 A6NCQ9;NP_001140156 Hs.526550 OTTHUMP00000162929;RING finger protein LOC643904 protein-coding ENSG00000189051 HGNC:34517 VALIDATED 1605659 RNF220 ring finger protein 220 ENCODES a protein that exhibits ubiquitin-protein transferase activity (ortholog); INVOLVED IN protein autoubiquitination (ortholog); protein ubiquitination (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH arsenite(3-); benzo[a]pyrene diol epoxide I; disodium selenite 1 1 1 p34.1 43154154 43400285 + 44870837 45117396 + 44405091 44651724 + 6480464 11042152;12477932;14702039;15489334;16710414;16713569;19615732;19913121;20170641;20379614;20628086;21139048;21890473;21906983;21963094;22505724;23000965;8125298 55182 H0Y7B1;Q5TDE7;Q5TDE8;Q5VTB9;U3KPZ6 ABBA01050918;ABBA01050919;ABBA01050920;ABBA01050921;ABBA01050922;ABBA01050923;ABBA01050924;AF151080;AK001459;AK025744;AK056424;AK124790;AK225180;AK293411;AK296038;AK297228;AL122004;AL359373;AL596225;AMYH02000916;AMYH02000917;AMYH02000918;BC000279;BC034221;BC062600;BC073835;BC098266;BC098300;BC105790;CH471059;KF495935;NM_018150;XM_005270992;XM_005270993;XM_005270994;XM_005270996;XM_005270997;XM_006710735 AAF36166;AAH00279;AAH34221;AAH98266;AAH98300;BAA91704;BAG51705;BAG54095;BAG56918;BAG58804;BAG59711;EAX07034;EAX07036;NP_060620;Q5VTB9;XP_005271049;XP_005271050;XP_005271051;XP_005271053;XP_005271054;XP_006710798 Hs.456557 1340233;1653656;1722361;1753693;1775402;1777892;1781442;1849007;1849548;2136655;2163162;2167349 AL009337;D1S2562;D1S2881;G60250;RH41792;RH64533;SHGC-107598;SHGC-112020;SHGC-74686;SHGC-74690;SHGC-74691;WI-11305 C1orf164;FLJ10597;RP4-678E16.1 E3 ubiquitin-protein ligase RNF220;OTTHUMP00000009170;OTTHUMP00000009530;OTTHUMP00000009532 protein-coding ENSG00000187147 HGNC:25552 13336 VALIDATED 9587522 RNF225 ring finger protein 225 19 19 19 q13.43 55951450 55952439 + 58907457 58908446 + 58395684 58397079 + 646862 ABBA01020770;AC012313;AMYH02036534;AMYH02036535;CH471135;NM_001195135;XM_006723328 EAW72584;NP_001182064;XP_006723391 Hs.728121 protein-coding ENSG00000269855 HGNC:51249 PROVISIONAL 1314288 RNF26 ring finger protein 26 The protein encoded by this intronless gene contains a C3HC5 type of RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The expression of this gene was found to be upregulated in cancer cell lines derived from different types of cancer. [provided by RefSeq, Jul 2008] 11 11 11 q23 116365908 116368693 + 119205210 119208024 + 119334500 119337314 + 1580863;6480464;8554872 11352657;12477932;14702039;15489334;16303743;18187620;18976975;19690564;19913121;20628086 79102 Q9BY78 AB055622;ABBA01039674;AK075379;AK122642;AL702838;AMYH02025666;AP003396;BC000058;BC007534;BQ953192;BX647424;BX648447;CH471065;CK821090;CS051427;NM_032015 AAH00058;AAH07534;ABM84427;ABM87453;BAB40955;BAC11580;BAG53635;CAI72207;EAW67479;NP_114404;Q9BY78 Hs.524084;Hs.744159;Hs.745522 1776701;2177455 A005D38;Bdaa7g02 MGC2642 OTTHUMP00000232088;ring finger protein with leucine zipper APPROVED protein-coding ENSG00000173456 HGNC:14646 05842 606130 REVIEWED 2301485 RNF2P1 ring finger protein 2 pseudogene 1 9 9 9 p24.1 6607035 6607977 - 6669691 6670633 - 6669691 6670633 - 100132467 ABBA01065389;AL162411;AL354707;AMYH02019097;NG_008708 RNF2P APPROVED pseudo HGNC:33987 INFERRED 1603826 RNF207 ring finger protein 207 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 3,3',4,4',5-pentachlorobiphenyl; all-trans-retinoic acid 1 1 1 p36.31 5380701 5395870 + 6266189 6281359 + 6206010 6221299 + 6480464 12107413;12477932;14702039;16344560;19305408;19305409;8889548 388591 Q6ZRF8 ABBA01035439;AK056658;AK127700;AK128246;AK128450;AK294223;AL031847;AMYH02000169;BC034459;BC119780;BC128237;BQ045220;CD673733;DA190055;DB290694;DB636433;NM_207396;XM_006710638;XM_006710639 AAI19781;AAI28238;BAB71243;BAC87091;BAC87352;BAG57527;NP_997279;Q6ZRF8;XP_006710701;XP_006710702 Hs.716549 1657637;1696934;2132325;5015961;5020414;5022322;5022578;5037552;5109281 D11S2560;D15S1477;D1S1423;D1S1425;D8S2279;L17688;RH101937;SHGC-74149;SHGC-74151 C1orf188;FLJ32096;FLJ46380;FLJ46593 OTTHUMP00000001377 protein-coding ENSG00000158286 HGNC:32947 08119;13536 VALIDATED 5132816 RNF224 ring finger protein 224 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred) 9 9 9 q34.3 3418 4906 - 140122018 140124090 + 137227566 137229638 + 8554872 643596 P0DH78 ABBA01022750;ABBA01022751;AMYH02021927;AMYH02021928;AW236719;BM921684;BX255925;NG_017008;NM_001190228 NP_001177157;P0DH78 Hs.730186 hypothetical protein LOC643596 protein-coding ENSG00000233198 HGNC:41912 VALIDATED 5132242 RNF223 ring finger protein 223 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN integral component of membrane (inferred) 1 1 1 p36.33 1574564 1577125 + 1007126 1009687 - 1071746 1074307 - 401934 E7ERA6 ABBA01016013;AK296576;AL390719;AMYH02000078;NM_001205252 BAG59196;E7ERA6;NP_001192181 Hs.568137 hypothetical protein LOC401934 protein-coding HGNC:40020 VALIDATED 1317975 RNF32 ring finger protein 32 The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2011] 7 7 7 q36 150860591 150897015 + 156432971 156470377 + 156640659 156677130 + 1580863;6480464 11076863;11230166;11256614;11890671;12477932;12853948;15489334;15489336;16169070;16381901;19549727;21163940;21832049;21988832;22493164;24250222;9847074 140545 C9JXI4;E9PES2;G5E940;Q9H0A6 AA412402;ABBA01032376;AC005534;AF325690;AF441222;AF441223;AF441224;AF441225;AK307316;AK314067;AL136874;AMYH02017148;BC015416;BC028120;BI460257;BI465216;BT007037;CH236954;CH471149;CR533513;DB445126;NM_001184996;NM_001184997;NM_030936;XM_005249522;XM_006715851;XM_006715852;XR_428167;XR_428168 AAD43189;AAG50281;AAH15416;AAM18664;AAM18665;AAM18666;AAM18667;AAM18668;AAM18669;AAP35686;CAB66808;CAG38544;CAL37640;CAL38072;EAX04551;EAX04552;EAX04553;EAX04554;EAX04555;EAX04556;EAX04557;EAX04558;NP_001171925;NP_001171926;NP_112198;Q9H0A6;XP_005249579;XP_006715914;XP_006715915 Hs.446194 1660697;1685221;1689007;1778899;1787942;2131193;2150375 GDB:1318499;RH93169;RH94347;SHGC-132644;SHGC-36890;SHGC-58113;WI-11426 FKSG33;HSD15;LMBR2 OTTHUMP00000200005;OTTHUMP00000200007;OTTHUMP00000200008;OTTHUMP00000200009;OTTHUMP00000200127 APPROVED protein-coding ENSG00000105982 HGNC:17118 11517 610241 REVIEWED 1352323 RNF34 ring finger protein 34, E3 ubiquitin protein ligase The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012] 12 12 12 q24.31 121475573 121499826 + 121837886 121862155 + 121400083 121424352 + 6480464 12118383;12477932;14702039;15069192;15489334;15595643;15897238;16344560;17121812;18382127;19531213;19549727;20564261;21308745;21832049;21903591;22064484;22493164;25012219;8125298 80196 G3V4D1;G3V504;G3V566;G3V5F1;H7BYJ1;Q969K3 AB084914;ABBA01020163;AC048337;AF306709;AK024957;AK025439;AK096994;AK130355;AK225285;AL557811;AMYH02027393;AY098934;BC007826;BC039029;BC046174;BI559962;BT007283;CH471054;CR457342;DA887995;DB242808;NM_001256858;NM_025126;NM_194271 AAH07826;AAK51328;AAM29180;AAP35947;BAB15132;BAC11802;CAG33623;EAW98262;EAW98263;EAW98264;NP_001243787;NP_079402;NP_919247;Q969K3 Hs.292804 1676556;1725653;1796712;1846875;2128428;2168293;2184256 D12S1398;G35016;G62101;NIB1331;RH64995;RNF36_1732;SGC32343 CARP-1;CARP1;FLJ21786;RFI;RIF;RIFF;hRFI E3 ubiquitin-protein ligase RNF34;FYVE-RING finger protein MOMO;OTTHUMP00000246294;OTTHUMP00000246295;OTTHUMP00000246297;RING finger protein RIFF;caspase regulator CARP1;caspases-8 and -10-associated RING finger protein 1;human RING finger homologous to inhibitor of apoptosis protein APPROVED protein-coding ENSG00000170633 HGNC:17297 10509 608299 REVIEWED 1349960 RNF35 ring finger protein 35 337951 AY063495 HGNC:17308 737292 RNF38 ring finger protein 38 This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 9 9 9 p13 36269750 36334476 - 36336395 36487568 - 36336398 36487571 - 6480464;8554872 11076863;11230166;11752456;12074600;12477932;12874135;14702039;15164053;15489334;15489336;16344560;16381901;19322201;19549727;20308539;21906983;21963094;22493164;22505724;23973461;24250222;8889548 152006 Q9H0F5 ABBA01050429;ABBA01050430;AF394047;AK024996;AK025466;AK093480;AK097653;AL120640;AL136817;AL161792;AL354935;AMYH02019477;AMYH02019478;AV690059;AX748155;BC033786;BG722531;BI459742;BI520161;BU731024;CH471071;DA189510;DA483270;NM_022781;NM_194328;NM_194329;NM_194330;NM_194332;XM_005251364;XM_005251365;XM_005251366;XM_005251367;XM_005251368;XM_006716721 AAH33786;AAM73697;ABM86161;ABW03690;BAB15050;BAG52726;CAB66751;CAL37560;EAW58305;NP_073618;NP_919309;NP_919310;NP_919311;NP_919313;Q9H0F5;XP_005251421;XP_005251422;XP_005251423;XP_005251424;XP_005251425;XP_006716784 Hs.333503 1340568;1660736;1674186;1705518;1720039;1738263;1796714;2148444;2185034;7185658 D9S1221;D9S1791;G17285;RH123814;RH46497;RNF38_807;SHGC-104;SHGC-83857;WI-21063 FLJ21343 E3 ubiquitin-protein ligase RNF38;OTTHUMP00000021376;OTTHUMP00000196925;OTTHUMP00000196926 APPROVED protein-coding ENSG00000137075 HGNC:18052 11519 612488 REVIEWED 1604283 RNF39 ring finger protein 39 This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31636296 31641881 - 30038043 30043628 - 30070266 30075851 - 6480464;8554872 10585558;11006080;11076863;11130983;11716498;12477932;14574404;17719541;19050382;19115949;19693088;19851445;20041166;20593013;20875797;24489884;8889548 80352 Q96QB5;Q9H2S5 AB088087;AB202082;ABBA01038041;AF238315;AF238316;AF238317;AL669914;AL671859;AL845439;AMYH02013426;BA000025;BX088647;BX927229;CA311242;CH471081;CR388205;CR759763;CR759960;CR933538;NM_025236;NM_170769 AAG40628;AAG40629;AAG40630;AAI11602;BAB63333;BAC54920;BAE78602;EAX03255;EAX03256;NP_079512;NP_739575;Q9H2S5 Hs.121178 1658545;1683339;1798108;1856520;2144470;2160358 G29206;G31541;RH99256;RNF39_1552.2;STS-R63837;STS-W44579 HZF;HZFW;LIRF LTP (long-term potentiation) induced RING finger protein;OTTHUMP00000029424;OTTHUMP00000029425 APPROVED protein-coding ENSG00000204618 HGNC:18064 09600 607524 VALIDATED 1323079 RNF25 ring finger protein 25 The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination. [provided by RefSeq, Jul 2008] 2 2 2 q35 213296345 213304539 - 219528587 219536781 - 218663864 218672058 - 1580863;6480464 10500182;12477932;12748188;14517261;14702039;15489334;16196087;17203973;18757723;19256485;19549727;19690564;20639865;21139048;21890473;21906983;21987572;22053931;22118674;22493164;23000965;24816145;24901938;8125298 64320 H7C219;Q96BH1 ABBA01023861;AC009974;AK023968;AK222525;AK289501;AMYH02005805;AW613024;BC015612;BC028167;BI831198;CH471063;NM_022453 AAH15612;ADZ15417;BAB14743;BAD96245;BAF82190;EAW70641;EAW70642;EAW70643;EAW70644;EAW70645;EAW70646;NP_071898;Q96BH1 Hs.471403 1677899;1707156;1796710 RH92184;RNF25_1331;SHGC-81348 AO7;FLJ13906 E3 ubiquitin-protein ligase RNF25;OTTHUMP00000164094;OTTHUMP00000206471;ring finger protein AO7 APPROVED protein-coding ENSG00000163481 HGNC:14662 09737 616014 REVIEWED 737478 RNF4 ring finger protein 4 The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of GATA-mediated transcription. Transcription repressor ZNF278/PATZ is found to interact with this protein, and thus reduce the enhancement of androgen receptor-dependent transcription mediated by this protein. Studies of the mouse and rat counterparts suggested a role of this protein in spermatogenesis. A pseudogene of this gene is found on chromosome 1.[provided by RefSeq, Jul 2010] 4 4 4 p16.3 2381995 2428665 + 2470795 2517586 + 2469068 2515859 + 1580863;6480464;8661242 24002223 10617653;10713105;10822263;10849425;11319220;11696545;11719514;12351196;12477932;12874792;12885770;14987998;15231748;15489334;15572661;15707587;16344560;17762865;18029348;18408734;19380586;19524139;19549727;19690564;20211142;20379614;20696907;20936779;20943951;21252943;21857666;21963094;21983342;22106342;22388745;22493164;22505616;22505724;22661229;22661230;23000965;23028697;23086935;23211528;23504328;23530056;23543742;23560854;23602568;24151981;24250222;24637324;24656128;24714598;24844634;24882209;24907272;24969970;8889548;9479498;9710597;9734812 6047 D6R9E0;D6RA71;D6RAD8;D6RBQ7;D6RBZ1;D6RJ08;D6RJF5;F5H1U2;H0YAI5;P78317 AB000468;ABBA01029503;ABBA01029504;ABBA01029505;AK128038;AK307372;AK309509;AK311314;AK312534;AL645924;AMYH02008609;AMYH02008610;BC031935;BU682428;BX322586;CB993989;CH471131;DA342512;DB064628;NM_001185009;NM_001185010;NM_002938;U95140 AAC52022;AAH31935;ABZ92180;BAA19122;BAG35433;BAG54620;EAW82522;EAW82523;EAW82524;EAW82525;EAW82526;NP_001171938;NP_001171939;NP_002929;P78317 Hs.66394 1682159;1688524;1690360;1739321;2110949;2121372;5016478 Cda0fc06;D4S2764E;D4S816E;GDB:434012;RH64743;RH64880;RH65312 RES4-26;SLX5;SNURF E3 ubiquitin ligase RNF4;E3 ubiquitin-protein ligase RNF4;OTTHUMP00000218370;OTTHUMP00000218371;OTTHUMP00000218372;OTTHUMP00000218373;OTTHUMP00000218374;OTTHUMP00000218376;OTTHUMP00000218383;small nuclear RING finger protein APPROVED protein-coding ENSG00000063978 HGNC:10067 04167 602850 REVIEWED 1348836 RNF31 ring finger protein 31 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 4481127 4494338 + 24616101 24629870 + 24147450 24160661 + 6480464;7800730;8554872 23085193 10422847;12477932;12629548;12693554;14702039;15093743;15146197;15489334;16713569;17006537;17069764;18985028;19136968;19237537;20005846;20588308;20614026;21078624;21139048;21163940;21292167;21455180;21811235;21890473;21903422;21906983;21963094;21987572;21988832;22253853;22427816;22430200;22505724;22605335;22607974;22863777;23000965;23032186;23032187;23524849;23708998;23727886;23732909;23746843;23818254;23986494;24030825;24141947;24441041;24469399;24491438;24722188;24726323;24726327;8125298;8744354 55072 H0YKI4;H0YKX0;H0YM13;H0YM57;H0YM83;H0YMG4;H0YMG8;H0YMK6;H0YMN0;H0YNC1;H0YNJ0;H0YNK5;H0YNT1;Q96EP0 AB265810;ABBA01061333;ABBA01061334;AK000973;AK027154;AK055542;AK122711;AK225832;AK291247;AL136295;AMYH02028879;AMYH02028880;AY256461;BC009821;BC012077;BC017376;BI459554;BI544688;CD742923;CH471078;CN287790;NM_017999 AAH09821;AAH12077;AAH17376;AAP12522;BAA91450;BAB15675;BAB70948;BAF35583;BAF83936;BAG53683;EAW66095;EAW66096;EAW66097;EAW66098;EAW66099;NP_060469;Q96EP0 Hs.375217;Hs.434081 1681909;2168009;5113402 G35694;RH76410;RH92448 FLJ10111;FLJ23501;HOIP;MGC19975 E3 ubiquitin-protein ligase RNF31;HOIL-1-interacting protein;OTTHUMP00000027978;ZIBRA;zinc in-between-RING-finger ubiquitin-associated domain protein APPROVED protein-coding ENSG00000092098 HGNC:16031 11516 612487 VALIDATED 1316271 RNF44 ring finger protein 44 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008] 5 5 5 q35.2 172536728 172547449 + 175953700 175965026 - 176526699 176538020 - 6480464 10470851;12477932;15489334;21906983;21963094;22267201;22505724;7757816;8889548 22838 D6RAW5;D6RHW8;H0Y9W0;Q7L0R7 AB029023;ABBA01033492;AC010316;AC091934;AK127673;AK302385;AL547765;AMYH02012815;BC039833;BC063297;BM672494;CH471195;NM_014901;XM_005265840;XM_005265841;XM_005265842;XM_005265843;XM_005265844;XM_005265845;XM_006714831;XM_006714832;Z39041 AAH39833;AAH63297;BAA83052;BAC87078;BAG63702;EAW85070;EAW85071;EAW85072;NP_055716;Q7L0R7;XP_005265897;XP_005265898;XP_005265899;XP_005265900;XP_005265901;XP_005265902;XP_006714894;XP_006714895 Hs.434888 1740361;2159509 D5S2191E;HSC0XH122 KIAA1100 OTTHUMP00000161248 APPROVED protein-coding ENSG00000146083 HGNC:19180 15265 REVIEWED 1352556 RNF5 ring finger protein 5, E3 ubiquitin protein ligase The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33713209 33715617 + 32146162 32148570 + 32178385 32180793 + 1580863;6480464;6907045 10967549;11329381;11603805;12477932;12861019;14574404;14656967;14667819;15485865;15489334;15545318;15761153;16176924;16901789;17804730;18216283;18555783;18781797;18976975;19143821;19269966;19285439;19549727;19690564;19851445;20152160;20483786;21139048;21148293;21594788;21890473;21906983;22053931;22190034;22433715;22493164;22505724;2259622;22750442;23000965;23105109;23798571;24250222;25015289;8889548;9533025 6048 Q99942 AB056869;ABBA01038108;AJ243936;AK296212;AK311859;AL555609;AL662830;AL662884;AL845464;AMYH02013469;BC004155;BC020290;BC111392;BC119741;BC119742;BC127651;BC127652;BC148255;BM712189;BT007105;BU599297;BX284686;BX927239;CH471081;CQ834264;CR812478;CR933878;NM_006913;U89336 AAB47492;AAH04155;AAI11393;AAI19742;AAI19743;AAI27652;AAI27653;AAI48256;AAP35769;ADZ15674;BAB39359;BAG34800;BAG58938;CAB51286;CAH05347;EAX03607;EAX03608;EAX03609;NP_008844;Q99942 Hs.731774 1678331;1679343;1681314;1684674;2161369;2161377;2190893 D6S1871;MARC_10431-10432:999637141:1;RH40485;RH65115;RH67947;RH80855;STS-D60277 RING5;RMA1;hsRma1 E3 ubiquitin-protein ligase RNF5;OTTHUMP00000029107;protein G16;ram1 homolog APPROVED protein-coding ENSG00000204308 HGNC:10068 04057 602677 REVIEWED 1313548 RNF2 ring finger protein 2 Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. [provided by RefSeq, Jul 2008] 1 1 1 q25.3 158125254 158182437 + 185014482 185071740 + 185045419 185102608 + 737633;1580863;6480464;9479058;9479060;9491844;8554872;9491842;9491843 12477932;19585519;20515739;20740046;23473600;25065329 10369680;11439343;11513855;11865070;12167161;12167701;12183370;12589020;14702039;15009096;15386022;15489334;15563468;15761153;15773819;15931389;15960975;16169070;16359901;16624538;16710298;16710414;16714294;16751658;16943429;17070805;17081983;17088979;17157253;17379327;17428788;17468742;17873902;17936708;18029348;18051367;18339675;18616292;18629613;19337376;19412891;19549727;19584075;19636380;19690564;20237291;20351251;20601937;20696397;20800574;20811636;20854876;21139048;21179169;21282530;21347701;21530438;21596310;21676867;21772249;21890473;22031506;22042911;22099309;22325352;22427948;22493164;22797925;22844243;22902369;22907436;22910419;23000965;23022380;23105109;23207902;23251661;23318437;23319651;23383273;23395003;23455922;23500468;23671107;23712474;23727134;23955241;24163370;24284202;24457600;24614341;24634510;24825905;24903147;24980959 6045 Q99496;X6RFN3 ABBA01027724;ABBA01027725;ABBA01027726;AF075026;AF141327;AI242656;AK091574;AK314793;AL109865;AMYH02002305;AMYH02002306;BC012583;BF183837;BX338357;CH471067;NM_007212;XM_005245413;Y10571 AAD29717;AAH12583;ABM83858;ABM87180;BAG37324;BAG52383;CAA71596;EAW91187;EAW91188;NP_009143;Q99496;XP_005245470 Hs.591490 1681263;1734202;1798104;1856831;2145824;2148120;2150906 D1S1739E;D1S2184;RH99320;RNF2_1843;SHGC-34344;SHGC-75971;SHGC-76058 BAP-1;BAP1;DING;HIPI3;RING1B;RING2 E3 ubiquitin-protein ligase RING2;HIP2-interacting protein 3;OTTHUMP00000033405;OTTHUMP00000033406;OTTHUMP00000033407;RING finger protein 1B;RING finger protein BAP-1;huntingtin-interacting protein 2-interacting protein 3 APPROVED protein-coding ENSG00000121481 HGNC:10061 07028 608985 REVIEWED 1319962 RNF41 ring finger protein 41, E3 ubiquitin protein ligase This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011] 12 12 12 q13.13 56250761 56268658 - 56596288 56615753 - 56202504 56221970 - 6480464;6907045 11358394;11867753;12411582;12477932;14676191;14765125;15314180;15342556;15489334;15632191;17035239;17145873;17210635;17384230;17403666;18541373;19322201;19549727;19690564;19800834;20098290;20360068;20508642;20587519;20628057;21139048;21378310;21576364;21693106;21832049;21890473;22493164;23750007;24259665;24519943;24561123;25036637;8619474;9110174 10193 F8VNZ6;F8VSB6;F8VSE5;F8VSP7;F8VVY2;Q9H4P4 ABBA01008411;ABBA01008412;AC073896;AF077599;AK300752;AK304576;AK314811;AL080105;AMYH02026562;AY007109;BC011626;BC024284;BC032637;BC036267;BC095418;BI562407;BP201682;BU170070;CB989647;CH471054;DC316022;NM_001242826;NM_005785;NM_194358;NM_194359;NR_040053;XM_005268561 AAC27647;AAG01988;AAH32637;ABZ92287;BAG37335;BAG62420;BAG65365;EAW96909;EAW96910;EAW96911;NP_001229755;NP_005776;NP_919339;NP_919340;Q9H4P4;XP_005268618 Hs.524502 1648640;1648642;1777242;1798110;5014051;5015619;5015861;5016478;5020946;5037552;7185938 A002D43;D10S16;D11S3114;D8S2278;D8S2279;G19966;GDB:434012;L17971;RH48368;RNF41_1849 FLRF;MGC45228;NRDP1;SBBI03 E3 ubiquitin-protein ligase NRDP1;OTTHUMP00000243503;OTTHUMP00000243504;OTTHUMP00000243505;OTTHUMP00000243506;OTTHUMP00000243507;OTTHUMP00000243508;OTTHUMP00000243509;fetal liver ring finger;neuregulin receptor degradation protein-1 APPROVED protein-coding ENSG00000181852 HGNC:18401 11520 REVIEWED 5131388 RNF6P1 ring finger protein (C3H2C3 type) 6 pseudogene 1 21 21 21 25943378 25944036 - 40745689 40746347 - 39373763 39374421 - 100420924 ABBA01009339;AF064861;AMYH02037831;NG_025045 1808992;1844884;1844980;1899048;1899050;1899052;1899054;1899056;1899058;1899060;1899062;1899064;1899066;1899068;1899070;1899072;1899074 ECD05479;ECD23658;ECD23706;REN20322;REN20323;REN20324;REN20325;REN20326;REN20327;REN20328;REN20329;REN20330;REN20331;REN20332;REN20333;REN20334;REN20335 pseudo HGNC:39922 INFERRED 1314509 RNF6 ring finger protein (C3H2C3 type) 6 The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008] 13 13 13 q12.2 7855135 7864738 - 26786894 26796686 - 26132115 26222549 - 1599613;1580863;6480464;7240710;8699517;8554872 12154016 10331950;11971979;12477932;12874135;15342556;15489334;16204183;16344560;18368307;19345326;19454010;19549727;21906983;22159054 6049 Q9Y252 ABBA01007913;AF293342;AJ010346;AJ010347;AK293272;AK312435;AL133621;AL138966;AMYH02027730;AY009109;BC034688;BI461269;BP310130;BU633523;CH471075;CR749238;DB062601;DC310579;KF511198;NG_017042;NM_005977;NM_183043;NM_183044;XM_005266485;XM_005266486;XM_006719854 AAG49400;AAH34688;AAK00848;ABM82407;ABM87824;BAG35344;BAG56801;CAB40413;CAB40414;CAB63747;CAH18094;EAX08380;EAX08381;EAX08382;EAX08383;NP_005968;NP_898864;NP_898865;Q9Y252;XP_005266542;XP_005266543;XP_006719917 Hs.136885 2155718;2177599 RH45794;RH46975 DKFZp686P0776 E3 ubiquitin-protein ligase RNF6;OTTHUMP00000018154;OTTHUMP00000018155;OTTHUMP00000018156;RING finger protein 6;RING-H2 protein RNF-6 APPROVED protein-coding ENSG00000127870 HGNC:10069 05027 133239;604242 REVIEWED 1342772 RNF43 ring finger protein 43 RNF43 is a HAP95 (AKAP8L; MIM 609475) binding ubiquitin ligase that promotes cell growth and is upregulated in colon cancer (Yagyu et al., 2004 [PubMed 15492824]; Sugiura et al., 2008 [PubMed 18313049]).[supplied by OMIM, Dec 2008] 17 17 17 q22 52892826 52956720 - 56431037 56494931 - 58353676 58417570 - 6480464;7365105;8554872 23151663 12477932;14702039;15489334;15492824;15623641;16344560;18313049;18655028;19336002;19690564;20686608;21108931;22895187;23096461;23136185;23620142;23756651;23847203;24001777;24225776 54894 J3KSE3;Q68DV7 AB081837;ABBA01041334;AC004687;AC023992;AK000322;AK291027;AK296769;AK298789;AK299024;AK309297;AMYH02033687;AMYH02033688;BC109028;CH471109;CR627423;CR749257;DA457410;DA723235;NM_017763 AAI09029;BAA91085;BAD51435;BAF83716;BAH12429;BAH12871;BAH12931;CAH10510;CAH18113;EAW94458;EAW94459;NP_060233;Q68DV7 Hs.584916 1657976;1661589;1672042;1682421;1691738;1691776;1693842;1720117;2123667;2158423;2187152 G42215;G42244;G42609;RH123800;RH36262;RH45569;RH93017;SHGC-34835;STS-H72889;STS-H82846;WI-11652 DKFZp781H02126;DKFZp781H0392;FLJ20315;FLJ77466;FLJ99338;MGC125630;RNF124;URCC E3 ubiquitin-protein ligase RNF43 APPROVED protein-coding ENSG00000108375 HGNC:18505 07896 612482 VALIDATED 5508551 RNF7P1 ring finger protein 7 pseudogene 1 3 3 57505399 57505737 - 57519672 57520010 - 100506872 ABBA01024417;AC092418;AMYH02006871;NG_030103 pseudo HGNC:43425 INFERRED 1603249 RNF5P1 ring finger protein 5, E3 ubiquitin protein ligase pseudogene 1 8 8 8 p11.22 37411033 37412120 - 38457691 38458775 - 38600173 38601257 - 11329381;12477932;12861019;14574404;14656967;15489334;16176924;20686608;9533025 286140 ABBA01023525;AC069120;AMYH02017837;BG315135;NR_003129 Hs.512071 1678331;1679343;1681314;1684674;2161377 RH40485;RH65115;RH67947;RH80855;STS-D60277 APPROVED pseudo HGNC:31053 PROVISIONAL 732458 RNF40 ring finger protein 40, E3 ubiquitin protein ligase The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 16 16 16 p11.2-p11.1 29510882 29523813 - 30772933 30787628 + 30761612 30776307 + 1580863;6480464;8661225 23532176 10944455;12121982;12477932;14702039;15489334;16189514;16303743;16307923;16344560;17081983;18029348;19410543;19471022;19615732;19946888;20738173;20811636;21139048;21329877;21362549;21827756;21890473;22021426;22031019;22155569;22354749;22558309;22939624;23000965;23022380;24526689;24583282;24816145;24837678;9734811 9810 A8K6K1;H3BP71;H3BQ99;H3BS50;H3BUL6;I3L332;O75150;R4GN66 AB014561;ABBA01042056;AC106886;AF122819;AI373490;AK027406;AK054773;AK075526;AK131310;AK291666;AK293710;AK294258;AK297531;AK304521;AL708520;AL712808;AMYH02031829;BC004527;BC006133;BC011769;BC018647;BC030802;BC113827;BM682766;BX640763;CH471192;CR627431;DA328615;KF456181;KF456183;NM_001207033;NM_001207034;NM_001286572;NM_014771 AAG13723;AAH04527;AAH06133;AAH11769;AAH18647;AAH30802;ABM84369;ABM87793;BAA31636;BAB55092;BAD18476;BAF84355;BAG52163;BAG57143;BAG57553;BAG59933;BAG65325;CAE45869;CAH10518;EAW52197;EAW52198;EAW52199;EAW52200;NP_001193962;NP_001193963;NP_001273501;NP_055586;O75150 Hs.65238 1677848;1699184 RH103172;RH65200 BRE1-B;BRE1B;DKFZp686K191;KIAA0661;MGC13051;RBP95 95 kDa retinoblastoma protein binding protein;95 kDa retinoblastoma-associated protein;BRE1 E3 ubiquitin ligase homolog B;E3 ubiquitin-protein ligase BRE1B;OTTHUMP00000163227;Rb-associated protein;STARING APPROVED protein-coding ENSG00000103549 HGNC:16867 07411 607700 REVIEWED 1319703 RNF24 ring finger protein 24 The protein encoded by this gene contains similarity to the Drosophila goliath protein and thus may function as a transcription factor. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 20 20 20 p13 3973942 4058065 - 3912068 3996216 - 3929918 4015569 - 1580863;6480464 11042152;11780052;12477932;15489334;17850865;21890473;21963094;21987572;22505724;23000965;24250222 11237 Q9P0N2;Q9Y225 ABBA01053842;ABBA01053843;AF151081;AL031670;AL079313;AL096778;AMYH02036611;AMYH02036612;AMYH02036613;AX405790;BC000213;BC039584;BT007406;CD367454;CH471133;CV811405;NM_001134337;NM_001134338;NM_007219;XM_006723536;XM_006723537 AAF36167;AAH00213;AAH39584;AAP36074;CAB45279;CAB46627;CAD34897;EAX10467;EAX10468;EAX10469;EAX10470;EAX10471;NP_001127809;NP_001127810;NP_009150;Q9Y225;XP_006723599;XP_006723600 Hs.589884 1335497;1779238;2118347;2120557 D20S889;RH16139;SHGC-152941;Z94486 G1L OTTHUMP00000030150;OTTHUMP00000161029;goliath-like protein (C3HC4 type) APPROVED protein-coding ENSG00000101236 HGNC:13779 10198 612489 REVIEWED 6903414 RNFT1P1 ring finger protein, transmembrane 1 pseudogene 1 2 2 2 20046219 20047341 - 20183884 20185006 - 19984123 19985245 - 100420886 ABBA01018485;AC079145;AMYH02003364;NG_023550 pseudo HGNC:44387 INFERRED 1317571 RNF8 ring finger protein 8, E3 ubiquitin protein ligase The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 6 6 6 p21.3 38876721 38917497 + 37321748 37362514 + 37353972 37394738 + 1580863;6480464;8661232;8661237 21533982;24326623 11322894;12477932;14574404;14702039;14981089;15231747;15489334;16189514;16215985;16226712;16344560;16712791;17724460;18001824;18001825;18006705;18077395;18171988;18337245;18550271;18678647;18948756;19124460;19549727;19797077;19913121;20016603;20023648;20075863;20080757;20081839;20628086;20656690;20713529;21139048;21412056;21558560;21635870;21664912;21698222;21706008;21774837;21857671;21906983;21911360;22068108;22266820;22373579;22405594;22493164;22508508;22531782;22589545;22705371;22814251;22865450;22980979;23038782;23115235;23230272;23233665;23255131;23442799;23615962;23708797;24240613;24250222;24634510;24732096;24980434;8125298;8889548;9734811;9852682 9025 C9J858;F8WDH8;F8WEW6;H7C4L7;O76064 AB012770;AB014546;ABBA01038281;ABBA01038282;ABBA01038283;AF334675;AK022075;AK222765;AK298319;AK308840;AL096712;AL711279;AMYH02013568;BC007517;BE327572;BF110581;BG029939;BM979512;BT007446;CA418096;CH471081;DA064222;NM_003958;NM_183078;NR_046399;XM_006715241;XM_006715242;XM_006715243;XR_427852;XR_427853;XR_427854;XR_427855;XR_427856;XR_427857 AAH07517;AAP36114;AAQ14887;ABM81663;ABM84835;BAA31621;BAA33557;BAD96485;BAG60572;EAX03943;EAX03944;EAX03945;NP_003949;NP_898901;O76064;XP_006715304;XP_006715305;XP_006715306 Hs.485278 1665691;1666220;1687057;2107553;2117809;2117811;5118718 A004W02;D11S3590;HSC2PC102;RH45129;RH46751;RH93720;RNF8_725.2 FLJ12013;KIAA0646;hRNF8 C3HC4-type zinc finger protein;E3 ubiquitin-protein ligase RNF8;OTTHUMP00000016323;OTTHUMP00000216659;UBC13/UEV-interacting ring finger protein;ring finger protein (C3HC4 type) 8 APPROVED protein-coding ENSG00000112130 HGNC:10071 11521 611685 REVIEWED 6903416 RNFT1P2 ring finger protein, transmembrane 1 pseudogene 2 1 1 1 p31.1 76875180 76875953 - 78636154 78636927 - 78170470 78171243 - 100132264 ABBA01074391;AC096531;AMYH02001311;NG_022725 pseudo HGNC:44388 INFERRED 1606007 RNFT1 ring finger protein, transmembrane 1 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 17 17 17 q23.1 54493237 54505631 - 58029723 58042117 - 59952362 59964756 - 6480464 12477932;19690564;19913121;20628086;21890473;21963094;23251661 51136 B4DJR4;E9PI44;H0YEZ8;K7EJ18;Q5M7Z0 ABBA01003182;AC004686;AC005702;AC245929;AF100745;AK098649;AK294806;AK295162;AK296197;BC006971;BC088365;CH471109;DB456985;NM_016125 AAD43009;AAH88365;BAC05364;BAG57925;BAG58176;BAG58926;EAW94378;EAW94379;EAW94380;EAW94381;NP_057209;Q5M7Z0 Hs.531701 1690304;5018953 G42236;RH98194 MGC111090;PTD016 OTTHUMP00000192879;RING finger and transmembrane domain-containing protein 1 protein-coding ENSG00000189050 HGNC:30206 17925 615172 VALIDATED 5128964 RNGTTP1 RNA guanylyltransferase and 5'-phosphatase pseudogene 1 21 21 21 12199271 12199945 + 27015857 27016531 + 25643545 25644219 + 100421428 ABBA01057211;AMYH02037647;AP000223;NG_025063 pseudo HGNC:39652 INFERRED 1320337 RNLS renalase, FAD-dependent amine oxidase Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008] 10 10 10 q23.31 83780492 84089897 - 90033621 90343611 - 88273864 88583854 - 737633;6480464;7327172;7327164;7327155;7327173;7327166;7327174;7327177;7327162;7327153;8554872 12477932;15841207;17216203;18299506;21178975;21297953;21617193;21964580;23393318;24022426 14702039;15164054;15342556;15489334;16385451;17207965;17565281;17846126;19430480;19471322;20168325;20302943;20975995;21163940;21424526;21699903;21996211;22172866;22227817;22539018;22812913;22891215;23271136;23375328;23530612;23564542;24266457;24511138;8889548 55328 B4DJW3;Q5VYX0 AA854849;ABBA01021955;ABBA01021956;AK002080;AK296262;AL139406;AL353149;AL365185;AMYH02023502;AMYH02023503;BC005364;BM978857;BP332262;BX648154;CH471066;NM_001031709;NM_018363;XM_005269946;XM_005269947;XM_005269948;XM_005269949;XM_005269950 AAH05364;ADQ32670;BAA92073;BAG58975;EAW50167;EAW50168;EAW50169;EAW50170;EAW50171;NP_001026879;NP_060833;Q5VYX0;XP_005270003;XP_005270004;XP_005270005;XP_005270006;XP_005270007 Hs.149849 1704660;1713561;1723193;1756307;1846664;2135459;2155658;2158055 AFM280WE1;D10S2339;RH120267;RH122278;RH65491;RH68820;SHGC-143261;SHGC-77962 C10orf59;FLJ11218;MAO-C OTTHUMP00000020034;OTTHUMP00000020035;alpha-NAD(P)H oxidase/anomerase;monoamine oxidase-C;renalase APPROVED protein-coding ENSG00000184719 HGNC:25641 07742 609360 VALIDATED 1605925 RNFT2 ring finger protein, transmembrane 2 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; genistein 12 12 12 q24.22 116805647 116920975 + 117176096 117291436 + 116738291 116853631 + 6480464 12477932;12975309;14702039;15489334;16541075;21890473;22005931;23251661 84900 F8VZS7;F8W6L4;Q96EX2 ABBA01020022;AC083806;AC090013;AK027533;AK093164;AMYH02027299;AMYH02027300;AMYH02027301;AMYH02027302;AY358585;BC011878;BG719293;BQ676121;CA432422;CH471054;NM_001109903;NM_032814;XM_005253968;XM_005253969 AAH11878;AAQ88948;BAB55182;EAW98090;EAW98091;EAW98092;NP_001103373;NP_116203;Q96EX2;XP_005254025;XP_005254026 Hs.437195 1650118;1740091;1758285;2139906;2143726;2144081;2160906 A008B04;D12S1573;D12S2079;D12S2126;G17816;SHGC-147915;WI-16979 FLJ14627;TMEM118 OTTHUMP00000198646;OTTHUMP00000198647;RING finger and transmembrane domain-containing protein 2;transmembrane protein 118 protein-coding ENSG00000135119 HGNC:25905 08600 VALIDATED 1322859 RNGTT RNA guanylyltransferase and 5'-phosphatase ENCODES a protein that exhibits mRNA guanylyltransferase activity; RNA guanylyltransferase activity; triphosphatase activity; INVOLVED IN 7-methylguanosine mRNA capping; RNA processing; PARTICIPATES IN mRNA decay pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; aflatoxin B1 6 6 6 q16 89737906 90091236 - 89319988 89673440 - 88609897 88963721 - 1580863;6480464;6907045;8554872 10421630;11278368;12408826;12477932;14569024;15342556;17081983;17314511;19380743;20339536;20379614;21139048;21636784;21890473;21906983;21963094;22505724;22589738;22990118;23349942;23667531;24250222;9371772;9473487;9512541;9705270;9790902;9828141 8732 B4DSJ8;O60942;Q5TCW7;Q7Z3R6 AB009022;AB009023;AB009024;AB012142;AB012143;ABBA01040519;ABBA01040520;ABBA01040521;ABBA01040522;ABBA01040523;AF025654;AI193199;AK295719;AK299777;AK312407;AL079342;AL096868;AL133408;AL160403;AL445530;AMYH02014067;AMYH02014068;AMYH02014069;AMYH02014070;BC019954;BP256840;BP396964;BX537450;CH471051;NM_001286426;NM_001286428;NM_003800;XM_006715589;XR_427976 AAB91559;AAH19954;ADZ15512;BAA25198;BAA25199;BAA25894;BAA25895;BAA25896;BAG35320;BAG58562;BAG61660;CAD97693;EAW48566;EAW48567;EAW48568;EAW48569;EAW48570;NP_001273355;NP_001273357;NP_003791;O60942;XP_006715652 Hs.567378;Hs.627135 1659894;1704200;1705550;1707178;1754135;2021912;2165480;2186089;2186174 D6S1185E;D6S2152;D6S993;REN81954;RH48379;SHGC-132166;SHGC-79173;SHGC-79830;SHGC-83877 CAP1A;DKFZp686J2031;HCAP1;HCE;HCE1;hCAP OTTHUMP00000016841;OTTHUMP00000016842;mRNA-capping enzyme protein-coding ENSG00000111880 HGNC:10073 04621 603512 VALIDATED 1322298 RNF7 ring finger protein 7 The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 3 3 3 q22-q24 139880505 139888693 + 141457051 141465645 + 141738209 141746803 + 1580863;6480464;6907045;8554872 10082581;10230406;10230407;10443936;10506102;10512750;10748083;10851089;11027288;11255262;11483504;11506706;11710515;11861641;11999705;12470599;12477932;12565832;12748192;15489334;15601820;16189514;16325183;16344560;16874460;17217622;17828303;18029348;18454945;18624398;19037258;19250909;19300455;19549727;19953087;20098747;20103673;20603330;20638939;20933570;21145461;21980433;22171132;22190034;22190037;22405651;22493164;22841784;23300442;23383273;24044920;24076655;24337577;24390320 9616 F8WEU8;Q9UBF6 ABBA01059039;AC112771;AF092878;AF142060;AF164679;AF312226;AK311982;AMYH02007805;AW150174;BC005966;BC008627;BF439211;BG715867;BG716023;BG720797;BG742338;BT007348;BU959624;CA415974;CH471052;DB272382;NM_001201370;NM_014245;NM_183237;NR_037702;NR_037703 AAD25962;AAD30147;AAD55984;AAH05966;AAH08627;AAK37450;AAP36012;ABM82685;ABM85869;BAG34921;EAW78991;EAW78992;EAW78993;EAW78994;EAW78995;EAW78996;NP_001188299;NP_055060;NP_899060;Q9UBF6 Hs.134623 1689757;5015619;5022578;5037552 D11S3114;D1S1423;D8S2279;RH93677 CKBBP1;ROC2;SAG;rbx2 CKII beta-binding protein 1;OTTHUMP00000180644;OTTHUMP00000180645;OTTHUMP00000213937;RING-box protein 2;regulator of cullins 2;sensitive to apoptosis gene protein;sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2;zinc RING finger protein SAG APPROVED protein-coding HGNC:10070 04840 603863 REVIEWED 7204942 RNMTL1P1 RNA methyltransferase like 1 pseudogene 1 10 10 10 21370842 21371401 + 21682962 21683521 + 21394033 21394592 + 100420295 ABBA01034502;AL158209;AMYH02022419;NG_025475 pseudo HGNC:44905 INFERRED 7204945 RNMTL1P2 RNA methyltransferase like 1 pseudogene 2 7 7 7 17981716 17982670 + 18001702 18002656 + 17962079 17963033 + 100420223 ABBA01056646;AC080080;AMYH02015313;CH236948;NG_026539 pseudo HGNC:44906 INFERRED 7242431 RNPC3P1 RNA-binding region (RNP1, RRM) containing 3 pseudogene 1 3 3 3 p13 70101389 70103177 - 70174006 70175807 - 70124855 70126656 - 654340 ABBA01030919;AC139700;AMYH02007029;NG_022206 pseudo HGNC:47036 INFERRED 1350307 RNPC3 RNA-binding region (RNP1, RRM) containing 3 Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008] 1 1 1 p21 102260908 102290242 + 104068323 104097861 + 103525956 103555239 + 6480464 11347906;12477932;14974681;15146077;15146197;15231748;16096647;18482256;18559850;21832049;22939629 55599 E9PPV2;H0YE07;H0YEB8;Q96LT9;X6RLP6 ABBA01045412;AC095032;AC105272;AK000015;AK057799;AK289844;AL137730;AMYH02001592;AY099329;BC010697;BK005195;BX322653;CH471097;CN386195;NM_017619 AAH10697;AAM45139;BAA90885;BAB71580;BAF82533;CAB70897;DAA05493;EAW72901;EAW72905;EAW72906;NP_060089;Q96LT9 Hs.632423 1679996;2116807;5019124;5113773;5118444;5126686 D11S3316;RH102107;RH66389;RH80323;SHGC-34189;SHGC-75240 DKFZp667O0118;FLJ20008;FLJ25070;KIAA183;RBM40;RNP;SNRNP65 OTTHUMP00000233769;OTTHUMP00000233771;RNA recognition protein;RNA-binding motif protein 40;RNA-binding protein 40;RNA-binding region-containing protein 3;U11/U12 small nuclear ribonucleoprotein 65 kDa protein;U11/U12 snRNP 65 kDa protein;U11/U12 snRNP 65K;U11/U12-65K APPROVED protein-coding ENSG00000185946 HGNC:18666 15267 REVIEWED 733030 RNPEP arginyl aminopeptidase (aminopeptidase B) ENCODES a protein that exhibits aminopeptidase activity (ortholog); INVOLVED IN leukotriene biosynthetic process (inferred); proteolysis (inferred); PARTICIPATES IN angiotensin IV signaling pathway; renin-angiotensin cascade pathway; ASSOCIATED WITH Hypertension (ortholog); Mammary Neoplasms, Experimental (ortholog); FOUND IN extracellular vesicular exosome; extracellular region (ortholog); plasma membrane (ortholog); INTERACTS WITH 2-naphthylamine; copper(2+) sulfate; cyclosporin A 1 1 1 q32 175075517 175099029 + 201951766 201975275 + 201982638 202006147 + 1581649;1580863;1582109;2325950;2325942;6480464;8554872 16537183;16619500;3001599;9660082 10467730;12119107;12477932;14702039;15231748;15489334;16981702;18781797;19056867;21139048;21862451;21906983;21963094;22586326;22797925;23500679;24654937;24816145;8344358;8895530;9405297;9533033 6051 A6NKB8;C9JMZ3;H7C2T3;Q9H4A4 ABBA01027521;ABBA01027522;AC099676;AJ242586;AJ296161;AK026644;AK097372;AK129946;AL390139;AMYH02002486;AMYH02002487;BC001064;BC012166;BN000001;BQ898593;BX648806;CH471067;NM_020216;XM_005245418;XM_005245419;XM_005245420;XM_005245421;Z36876 AAH01064;AAH12166;ABM87011;ABW03849;CAB99087;CAC12957;CAC14047;CAD29858;EAW91386;EAW91387;NP_064601;Q9H4A4;XP_005245475;XP_005245476;XP_005245477;XP_005245478 Hs.497391 1651003;2108427 RNPEP_8596;SHGC-33108 AP-B;DKFZp547H084 OTTHUMP00000034046;OTTHUMP00000034047;OTTHUMP00000034048;aminopeptidase B;arginine aminopeptidase protein-coding ENSG00000176393 HGNC:10078 04055 602675 VALIDATED 1352195 RNPEPL1 arginyl aminopeptidase (aminopeptidase B)-like 1 ENCODES a protein that exhibits aminopeptidase activity (inferred); metallopeptidase activity (inferred); zinc ion binding (inferred); INVOLVED IN leukotriene biosynthetic process (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH choline; cobalt dichloride; copper(2+) sulfate 2 2 2 q37.3 235180436 235190476 + 241507952 241518149 + 240568538 240578732 + 1580863;6480464;8554872 11017071;12477932;14702039;15489334;15815621;17554300;19508204;20414141;20549515;21906983 57140 C9JSI2;H7C200;Q9HAU8 ABBA01048874;AC124862;AF300795;AK001668;AK130185;AK130805;AL512754;AMYH02006099;BC017301;BC067258;BC082975;BC099906;CH471063;NM_018226;XM_005247036 AAG22080;AAH17301;AAH67258;AAH82975;AAH99906;AAX88943;BAA91823;CAC21674;EAW71193;EAW71194;EAW71195;NP_060696;Q9HAU8;XP_005247093 Hs.5345 1781322;2106587;2140175;2147852;2148522 G31178;RH47255;RH69633;RH70105;RNPEPL1__5513 FLJ10806;FLJ26675;MGC99544 OTTHUMP00000164508;RNPEP-like 1;argininyl aminopeptidase-like 1;arginyl aminopeptidase-like 1 protein-coding HGNC:10079 07545 605287 VALIDATED 5553024 RNPS1P1 RNA binding protein S1, serine-rich domain pseudogene 1 4 4 4 p15.33 11834954 11839779 + 11370474 11375363 + 11368821 11373749 + 643446 ABBA01032529;AC006230;AMYH02008759;CH471069;NG_023467 EAW92696;EAW92697;EAW92698 1677480;1688588;2166525;2189115 G65141;RH69048;SHGC-53120;SHGC-67834 pseudo HGNC:39525 INFERRED 1351342 RNMTL1 RNA methyltransferase like 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN RNA methylation (inferred); RNA processing (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; genistein 17 17 17 p13.3 697654 707881 + 685513 695741 + 782273 792509 + 6480464;8554872 12296377;12477932;14702039;17207965;17353931;19615732;20186120;20877624;21145461;21832049;22939629;22990118;23473034;23535732;24163370;24816145;8125298 55178 I3L0T6;I3L443;Q9HC36 ABBA01054619;AC087392;AF177344;AK001443;AK222900;AK225128;AMYH02032722;BC011550;BC050614;CH471108;NM_018146;XM_006721553 AAG17988;AAH11550;AAH50614;ADQ33196;BAA91694;BAD96620;EAW90642;NP_060616;Q9HC36;XP_006721616 Hs.182729 1648471;1683124 RH91924;STS-AA030010 FLJ10581;HC90 OTTHUMP00000115320;RNA methyltransferase-like protein 1;putative RNA methyltransferase protein-coding ENSG00000171861 HGNC:18485 15266 612600 PROVISIONAL 1351869 RNR1 RNA, ribosomal 1 PARTICIPATES IN ribosome biogenesis pathway 6480464;6907045 6052 HGNC:10082 180450 1350343 RNR1 mitochondrially encoded 12S RNA ASSOCIATED WITH Auditory neuropathy (inferred); Cardiomyopathy, Restrictive (inferred); Deafness, Aminoglycoside-Induced (inferred); INTERACTS WITH paromomycin; streptomycin MT MT 648 1601 + 648 1601 + 6480464;8554872 11592049;11857751;11870684;12031626;12394346;12530196;12655418;12772452;12820379;12882732;12955586;12970877;14755216;15309320;15722487;15805873;15841390;15917167;15996314;16060290;16331560;16406239;16414144;16470309;16650816;16955413;17357124;17527057;17650818;17698299;17704703;17949297;17955603;18325329;18409190;18851951;19338775;19376484;19427859;19536740;19705751;19718752;19744334;19818876;19835846;19920115;19945968;19953480;20100600;20301403;20301411;20301595;20301607;20353758;20553101;20637512;20662562;20668687;20669656;20669660;20722495;20812880;20931531;20956747;21055240;21114417;21205314;22000150;22852811;23237192;23242658;23357266;23834103;24533451 4549 MTRNR1 APPROVED rrna HGNC:7470 180450;561000 1319473 RNMT RNA (guanine-7-) methyltransferase ENCODES a protein that exhibits mRNA (guanine-N7-)-methyltransferase activity; RNA binding; INVOLVED IN 7-methylguanosine mRNA capping; RNA (guanine-N7)-methylation; PARTICIPATES IN homocysteine metabolic pathway; methionine cycle/metabolic pathway; mRNA decay pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mRNA cap binding complex; nucleus; receptor complex; INTERACTS WITH all-trans-retinoic acid; cadmium atom; copper(2+) sulfate 18 18 18 p11.21 13607632 13645479 + 13726659 13764555 + 13726660 13764556 + 1359071;1580863;6480464;6907045;8554872 11472630 10347220;10589710;11114884;12477932;15489334;15767670;18029348;19161160;20379614;21139048;21145461;21906983;23863084;24163370;24200467;24816145;7275966;9455477;9512541;9705270;9790902;9828141 8731 K7EP06;K7EPP5;K7ERH6;O43148 AB007858;AB020966;AB022604;AB022605;AB022606;ABBA01074042;AF067791;AK292561;AK296370;AK303842;AMYH02034353;AP001525;BC005290;BC017816;BC036798;BX647977;CH471113;EF445026;NM_003799;XM_005258160;XM_005258162;XM_006722361 AAC63269;AAH05290;AAH17816;AAH36798;ACA06068;BAA23694;BAA74462;BAA74463;BAA74464;BAA82447;BAF85250;BAH12334;BAH14065;EAX01505;EAX01506;EAX01507;NP_003790;O43148;XP_005258217;XP_005258219;XP_006722424 Hs.592347 1645223;1645225;1666672;1678263;1679822;1679832;1710002;1710280;1729916;1857570;2164335;2219642 A001X09;A008X02;D18S40;G19740;RH36895;RH42013;RH64890;RNMT__5512;SHGC-82271;SHGC-85236;STS-D29135;WI-20101 DKFZp686H1252;KIAA0398;MET;RG7MT1;hCMT1;hCMT1c;hMet;hcm1p OTTHUMP00000162509;mRNA (guanine-7-)methyltransferase;mRNA (guanine-N(7)-)-methyltransferase;mRNA cap guanine-N7 methyltransferase;mRNA cap methyltransferase protein-coding ENSG00000101654 HGNC:10075 04622 603514 PROVISIONAL 1316766 RNPS1 RNA binding protein S1, serine-rich domain This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] 16 16 16 p13.3 2517549 2532543 - 2303100 2318413 - 2253116 2268412 - 6480464;6907045 10449421;11118221;11477570;11546873;11546874;11707413;12093754;12226669;12477932;12665594;12944400;14517304;14625303;14702039;14729963;14752011;15231747;15302935;15324660;15489334;15592455;15684395;16055720;16189514;16209946;16344560;16537548;16713569;16751776;17081983;17332742;17353931;17959926;18854154;19322201;19403727;20211142;20467438;20508642;20857263;21139048;21145461;21508110;21890473;22365833;22388736;22939629;23084401;23455922;23602568;24250222;24457600;24816145;8543184;8828041;9580558;9933612 10921 D3DU92;H3BMM9;H3BMS0;H3BNI3;H3BNU7;H3BP82;H3BPG5;H3BRK4;H3BTC0;H3BTR6;H3BTV0;H3BTY0;H3BUG0;H3BUL0;H3BV80;Q15287 AB445101;ABBA01030267;AC009065;AF015608;AF247662;AF274003;AK021799;AK289955;AK293343;AK303100;AK316132;AL520572;AL559988;AMYH02031249;BC001659;BC001838;BC108316;BG716139;BI819738;BQ059026;CH471112;DA062271;DA728900;DA732377;DA818573;DQ574166;HY012482;L37368;L75926;L75927;NM_001286625;NM_001286626;NM_001286627;NM_006711;NM_080594;NR_104485;XM_005255048;XM_005255049 AAA92859;AAC39791;AAF72519;AAH01659;AAH01838;AAI08317;AAL56665;ABM86440;ABW03795;BAF82644;BAG56859;BAG64209;BAH14503;BAI99736;EAW85516;EAW85517;EAW85518;EAW85519;EAW85520;EAW85521;EAW85522;NP_001273554;NP_001273555;NP_001273556;NP_006702;NP_542161;Q15287;XP_005255105;XP_005255106 Hs.355643;Hs.507343;Hs.733012 1677480;1688588;2166525;2189115;5021872;5022578;5113900 D1S1423;G65141;RH69048;RH79853;SHGC-53120;SHGC-67834;sY3084 E5.1;MGC117332 OTTHUMP00000159047;RNA-binding protein S1, serine-rich domain;RNA-binding protein with serine-rich domain 1;SR protein;SR-related protein LDC2 APPROVED protein-coding ENSG00000205937 HGNC:10080 07341 606447 REVIEWED 1350800 RNR2 RNA, ribosomal 2 PARTICIPATES IN ribosome biogenesis pathway p12 6907045 11350117;2047879;2319598;2606358;2989541;3649563;3785147;3865188;4091818;6954460;7557999 6053 AF305858;NR_024197 1735226;1794558;2164672;5023539 D3S2893E;NIB250;PMC316374P5;PMC31832P1 rrna HGNC:10083 180451 1347305 RNR2 mitochondrially encoded 16S RNA ENCODES a protein that exhibits receptor antagonist activity; INVOLVED IN extracellular negative regulation of signal transduction; leukocyte chemotaxis; negative regulation of apoptotic process; FOUND IN extracellular region; mitochondrion; perinuclear region of cytoplasm MT MT 1671 3229 + 1671 3229 + 11371646;15196694;15622243;15721287;15931342;16401312;16639504;16884381;17407074;17761147;18796524;19050702;19147801;19920115;20128730 4550 Q8IVG9 MTRNR2 APPROVED rrna HGNC:7471 180451;561010 1345442 RNR4 RNA, ribosomal 4 6055 HGNC:10085 180453 1352403 RNRP1 RNA, ribosomal pseudogene 1 3557129 6057 HGNC:10087 1344556 RNR5 RNA, ribosomal 5 6056 U13369 HGNC:10086 180454 1347966 RNR3 RNA, ribosomal 3 11350117;6954460 6054 HGNC:10084 180452 1342900 RNRP2 RNA, ribosomal pseudogene 2 6058 HGNC:10088 1348485 RNU1-1 RNA, U1 small nuclear 1 1 1 1 p36.1 15544449 15544612 + 16840617 16840780 - 16514122 16514285 - 12082087;17332742;17632523;21362553;22770214;23221635;24583175;3837185;6179629;6198328 26871 ABBA01004664;AC244454;AL137802;J00318;M14385;NR_004430 HSD1;HU1-1;RNU1;RNU1A;RNU1A3;RNU1G4;Rnu1a1;U1;U1A1 APPROVED snrna ENSG00000206652 HGNC:10120 VALIDATED 6481577 RNU1-17P RNA, U1 small nuclear 17, pseudogene 5 5 180156586 180156737 + 180729586 180729737 + 100873814 ABBA01010081;AC113427;AMYH02012913;NG_032596 pseudo HGNC:41943 INFERRED 1349649 RNU1-13P RNA, U1 small nuclear 13, pseudogene 1 1 1 q21.1 121119425 121119586 - 143673129 143673290 - 148388490 148388651 - 23070852;6085956 26860 ABBA01053732;AC245100;BX284650;JQ988795;M25189;NR_121646 RNU1-71;RNU1P6;RNVU1-2;U1.1;U1P1;vU1.2 APPROVED snrna HGNC:10138 VALIDATED 1347098 RNU1-11P RNA, U1 small nuclear 11, pseudogene 6 6 6 p24.1 14447250 14447465 + 13214272 13214487 + 13214040 13214255 + 6173130;6180116 26861 ABBA01022124;AL008729;AMYH02013128;J00319;NG_001264 RNU1P1;RNU1P5;U1P1A APPROVED pseudo HGNC:10137 INFERRED 1342987 RNU1-15P RNA, U1 small nuclear 15, pseudogene 7 7 7 p15.3 21406515 21406646 + 21420981 21421112 + 21381363 21381494 + 6085956 26858 ABBA01056682;AC005094;AMYH02015343;CH236948;M25191;NG_001261 RNU1P8;U1P11 APPROVED pseudo HGNC:10140 INFERRED 6481504 RNU1-16P RNA, U1 small nuclear 16, pseudogene 100873860 AL442125;NG_032634 U1.64 pseudo HGNC:39890 INFERRED 6481578 RNU1-18P RNA, U1 small nuclear 18, pseudogene 6 6 122532794 122532957 + 122211648 122211811 + 100873815 ABBA01025986;AL512323;AMYH02014408;NG_032597 pseudo HGNC:41944 INFERRED 6481505 RNU1-19P RNA, U1 small nuclear 19, pseudogene 10 10 88649326 88649490 + 86889569 86889733 + 100873861 ABBA01033687;AC025268;AMYH02023486;NG_032635 pseudo HGNC:41945 INFERRED 6481509 RNU1-21P RNA, U1 small nuclear 21, pseudogene 100873862 AP000868;NG_032636 pseudo HGNC:41947 INFERRED 6481579 RNU1-20P RNA, U1 small nuclear 20, pseudogene 3 3 192447344 192447505 - 192729555 192729716 - 100873816 ABBA01058302;AC079623;AMYH02008426;NG_032598 pseudo HGNC:41946 INFERRED 1345778 RNU1-2 RNA, U1 small nuclear 2 1 1 1 p36.1 15544449 15544612 + 17222475 17222638 + 16895980 16896143 + 3837185 26870 ABBA01000255;AMYH02000387;BX284668;M28012;M28013;NR_004427 RNU1C1;RNU1C2;U1C1;U1C21 APPROVED snrna ENSG00000207005 HGNC:10123 VALIDATED 6481508 RNU1-22P RNA, U1 small nuclear 22, pseudogene 16 16 3136144 3136301 + 3086143 3086300 + 100873863 ABBA01026726;AC108134;AMYH02031280;NG_032637 pseudo HGNC:41963 INFERRED 6481507 RNU1-24P RNA, U1 small nuclear 24, pseudogene 13 13 102431234 102431398 - 101778884 101779048 - 100873865 ABBA01027080;AL160153;AMYH02028620;NG_032638 U1.41 pseudo HGNC:42504 INFERRED 1353181 RNU1-27P RNA, U1 small nuclear 27, pseudogene 14 14 14 q13.1 14880126 14880289 + 35015920 35016083 + 34546714 34546877 + 6179629 26865 AL445363;AMYH02028991;NR_004424 HSD6;RNU1-7;RNU1-7P;RNU1E2;U1E2 APPROVED snrna ENSG00000206596 HGNC:37497 VALIDATED 1350496 RNU1-28P RNA, U1 small nuclear 28, pseudogene 14 14 14 q13.1 14889630 14889793 - 35025432 35025595 - 34556226 34556389 - 6179629 26866 ABBA01125884;AL445363;AMYH02028991;NR_004402 HSD7;RNU1-8;RNU1-8P;U1F APPROVED snrna ENSG00000206588 HGNC:37498 VALIDATED 1349662 RNU1-3 RNA, U1 small nuclear 3 1 1 1 p36.1 15320574 15320737 - 16993280 16993443 - 16666785 16666948 - 3837185;6179629 26869 ABBA01000993;AC246792;AL137798;M20032;NR_004408 HSD4;RNU1G3;U1C21 APPROVED snrna ENSG00000207513 HGNC:10130 VALIDATED 1349295 RNU1-4 RNA, U1 small nuclear 4 1 1 1 p36.1 15320574 15320737 - 17067011 17067174 + 16740516 16740679 + 6480464 12034819;12082087;12697817;12837281;15456888;16373497;19169258;6179629;6180116;6198328 6060 ABBA01006507;AC244231;AL021920;M14585;M14586;M14587;M20033;M20034;NR_004421 HSD2;HSD5;HSD6;HSD7;HU1-1;RNU1;RNU1D2;RNU1E2;RNU1F1;RNU1G1;RNU1G2;RNU1G4;Rnu1a1;U1;U1B2;U1D2;U1E2;U1F APPROVED snrna ENSG00000207389 HGNC:10128 180680 VALIDATED 1342826 RNU105A RNA, U105A small nucleolar 1 1 1 p35.3 27230847 27231004 + 28835070 28835227 + 28508558 28508715 + 7530998 26768 ABBA01035034;AL513497;AMYH02000629;NR_004404;U12211 1767391 SHGC-74505 105A;E1c snorna HGNC:10102 PROVISIONAL 1352899 RNU105B RNA, U105B small nucleolar 20 20 20 p12.3 8881370 8881578 + 8811832 8812040 + 8831185 8831393 + 7530998 26767 ABBA01053926;AL031683;AMYH02036685;NG_028168;NR_004386;U12207 105B;E1-2 snorna HGNC:10103 VALIDATED 1349469 RNU105C RNA, U105C small nucleolar 8 8 8 q11.23 51233825 51234034 + 55243246 55243455 + 54330686 54330895 + 7530998 26766 ABBA01041742;AC027250;AMYH02018003;NR_004385;U12208 E1-5;E1-6 snorna ENSG00000199212 HGNC:10104 PROVISIONAL 1346363 RNU11 RNA, U11 small nuclear INTERACTS WITH 17beta-estradiol; progesterone; resveratrol 1 1 1 p35 27371308 27371442 + 28975112 28975246 + 28648600 28648734 + 6480464 15146077;20347424;2973606 26824 ABBA01035051;AL360012;AL840644;AMYH02000633;NR_004407;X58716 Hs.640266 RNU11-1;U11 snrna ENSG00000270103;ENSG00000274978 HGNC:10108 PROVISIONAL 1349922 RNU12-2P RNA, U12 small nuclear 2, pseudogene X X X p11.23 51187392 51187544 + 46992071 46992223 + 47132672 47132824 + 15146077;19217400;7489523 26823 ABBA01052303;AL513366;AMYH02039269;L43845;NG_013273 RNU12;RNU12P;U12 APPROVED pseudo HGNC:10109 INFERRED 1347071 RNU17C RNA, U17C small nucleolar 26764 HGNC:10117 735371 RNH1 ribonuclease/angiogenin inhibitor 1 Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010] 11 11 11 p15.5 556703 569454 - 494512 507283 - 494512 507283 - 1580863;6480464 10413501;11342552;12477932;14702039;15489334;15592448;15755456;15936590;17314511;17350650;17956129;18029348;18781797;18854154;18930025;19034380;19056867;19596235;19615732;19738201;20381070;2081593;21125316;21139048;21276451;21565611;21890473;21906983;21963094;21987572;22053931;22162762;22190034;22505724;22586326;2276743;22863883;22939629;22944692;23000965;23402259;23584480;23667531;23703635;24250222;24654937;24768914;24816145;25027693;2742853;3064806;3219361;3219362;3243277;3470787;6653993;8037455;8264799;9311977 6050 E9PIK5;E9PIM9;E9PLZ3;E9PMA9;E9PMI1;E9PMJ3;E9PMN0;E9PR82;H0YCR7;P13489 AB209196;ABBA01015186;ABBA01015187;AC137894;AK027172;AK057144;AK308340;AK310173;AK311379;AL161967;AL534410;AL539148;AMYH02024142;AY071904;BC000677;BC003506;BC011186;BC011500;BC014629;BC024037;BC047730;BG716555;BG720935;BG752774;BM019570;BM465975;BM562998;BQ650217;BQ927358;BQ954409;CH471158;DC296330;M22414;M36717;NM_002939;NM_203383;NM_203384;NM_203385;NM_203386;NM_203387;NM_203388;NM_203389;X13973 AAA59130;AAA60249;AAH00677;AAH03506;AAH11186;AAH11500;AAH14629;AAH24037;AAH47730;AAL60586;ADZ16053;BAB15684;BAD92433;CAA32151;CAB82310;EAX02330;EAX02331;EAX02332;EAX02333;EAX02334;EAX02335;EAX02336;NP_002930;NP_976317;NP_976318;NP_976319;NP_976320;NP_976321;NP_976322;NP_976323;P13489 Hs.530687 1742577;1778197;1851146;2180537;5022200;5022651 D11S2921;GDB:197903;L18426;RH78931;RNH;SHGC-31515 MGC18200;MGC4569;MGC54054;RAI;RNH OTTHUMP00000147628;OTTHUMP00000229864;OTTHUMP00000229865;OTTHUMP00000229866;OTTHUMP00000229870;OTTHUMP00000229871;OTTHUMP00000229872;Placental ribonuclease inhibitor;placental RNase inhibitor;ribonuclease inhibitor APPROVED protein-coding ENSG00000023191 HGNC:10074 01412 173320 VALIDATED 68982 RNU1B RNA, U1B small nuclear 6061 HGNC:10122 1346912 RNU1D2 RNA, U1D2 small nuclear p36.1 6179629 26868 M14585;NR_004426 HSD5;U1B2;U1D2 snrna HGNC:10125 1348919 RNU1E2 RNA, U1E2 small nuclear p36.1 6179629 26867 M14586 U1E2 snrna HGNC:10126 1345159 RNU1G4 RNA, U1G4 small nuclear 6180116 26862 J00318 HGNC:10131 1354050 RNU1P3 RNA, U1 small nuclear pseudogene 3 3837186 6064 HGNC:10135 1343691 RNU1P1 RNA, U1 small nuclear pseudogene 1 q12-q22 3837185 6062 M28011;NG_001183 U1P101 pseudo HGNC:10132 1350084 RNU1P4 RNA, U1 small nuclear pseudogene 4 3837186 6065 HGNC:10136 1351596 RNU1P9 RNA, U1 small nuclear pseudogene 9 q21.1 6085956 26857 AL356957;M25190;NG_001260 U1.15;U1P15 pseudo HGNC:10141 1346841 RNU1-14P RNA, U1 small nuclear 14, pseudogene 7 7 7 p12.1 53494429 53494582 + 53433751 53433904 + 53366058 53366211 + 6085956;6173130 26859 ABBA01011832;AC007735;AMYH02015720;CH236957;M25192;NG_001262 RNU1P7;U1P17 APPROVED pseudo HGNC:10139 INFERRED 1347643 RNU2-1 RNA, U2 small nuclear 1 The spliceosome is a multicomponent ribonucleoprotein complex that catalyzes the removal of introns from nuclear mRNA precursors. The spliceosome is composed of four small ribonucleoprotein particles (the U1, U2, and U4/U6 snRNPs) and numerous additional proteins. The U2 small nuclear RNA (snRNA) is a RNA component of the U2 snRNP that interacts with the 3' region of the intron at the branch site. Several sites in the human genome express U2 snRNAs. This locus represents an array of U2 snRNA genes located at 17q21-22 that undergoes concerted evolution to homogenize repeat units within the array. Each repeat in this array is approximately 6.1 kb long and contains a single copy of the U2 snRNA. Arrays of six to more than 30 repeats have been reported. [provided by RefSeq, Mar 2009] 1 7 17 q12 51506749 51506799 + 116543373 116543409 + 43233790 43233977 - 6480464 12477932;14701755;15456888;17332742;17632523;2176635;23221635;23426875;23527303;2410771;2411549;24482036;24866816;6084596;6201719;6203126;6209403;7828589;9034341;9608047 6066 AC024051;AC087365;K02227;K03022;K03023;L37793;M19204;NR_002716;U57614;X01408;X02665;X59360 1733802;1742303;1792376;1989124;1989126;1989128;1989130;1989132;1989134;1989136;1989138;1989140;2093792;2160253 D17S1324;GDB:196136;PMC150226P1;REN65466;REN65467;REN65468;REN65469;REN65470;REN65471;REN65472;REN65473;REN65474;STS-T47095;stSG598251 RNU2;U2 APPROVED snrna ENSG00000274585 HGNC:10142 180690 REVIEWED 1351079 RNU2-3P RNA, U2 small nuclear 3, pseudogene 15 15 q26.2 72705225 72705490 + 96289033 96289298 + 6172777;6209403 26854 AC015574;K03024;NG_001258 RNU2P1;U2 APPROVED pseudo HGNC:10153 INFERRED 1343360 RNU2-5P RNA, U2 small nuclear 5, pseudogene 9 9 q21.12 43393883 43394059 - 72803490 72803666 - 6165010 26852 AL392044;K00779;NG_001256 RNU2P3 APPROVED pseudo HGNC:10155 INFERRED 1350456 RNU2-4P RNA, U2 small nuclear 4, pseudogene 17 17 17 q21.31 38175131 38175419 - 41464597 41464885 - 43387229 43387517 - 22751105;6201719 26853 ABBA01028418;AC087650;AMYH02033457;K02228;NG_001257 RNU2P2;U2;U2/7 APPROVED pseudo HGNC:10154 INFERRED 6481467 RNU2-7P RNA, U2 small nuclear 7, pseudogene 100873824 AL161772;NG_032604 pseudo HGNC:42505 INFERRED 6481465 RNU2-6P RNA, U2 small nuclear 6, pseudogene 100873825 AL139801;NG_032605 pseudo HGNC:42506 INFERRED 1347729 RNU3A2 RNA, U3A2 small nucleolar p11.2 9365252 26850 AF020530 u3 snorna HGNC:10169 1345715 RNU3B1 RNA, U3B1 small nucleolar p11.2 9365252 26848 AF020533 U3b1 snorna HGNC:10171 1346913 RNU3A3 RNA, U3A3 small nucleolar p11.2 9365252 26849 AF020531 U3a snorna HGNC:10170 1343109 RNU3B2 RNA, U3B2 small nucleolar p11.2 9365252 26847 AF020532 U3b1 snorna HGNC:10172 1352521 RNU3B3 RNA, U3B3 small nucleolar p11.2 9365252 26846 AF020536 U3b2 snorna HGNC:10173 1346919 RNU3B4 RNA, U3B4 small nucleolar p11.2 9365252 26845 AF020529 U3 snorna HGNC:10174 1343238 RNU3P1 RNA, U3 small nucleolar pseudogene 1 15 15 15 q22.1 35940599 35940814 - 59052665 59052880 - 58760466 58760681 - 2719960 6068 ABBA01038983;AC090515;AMYH02030532;NG_001185;X14946 U3 pseudo HGNC:10175 INFERRED 1345745 RNU3P2 RNA, U3 small nucleolar pseudogene 2 8 8 8 p21.3 19434905 19434975 - 20472367 20472437 - 20614856 20614926 - 6186397 26844 ABBA01021544;AC090805;AMYH02017576;K00773;NG_001255 U3;U3.2 pseudo HGNC:10176 INFERRED 1349861 RNU3P3 RNA, U3 small nucleolar pseudogene 3 14 14 14 q31.3 65782618 65782762 + 85738249 85738393 + 85271905 85272049 + 6173130;6186397 26843 ABBA01030576;AL157957;AMYH02029660;K00774;NG_001254 U3;U3.5;u3.7 pseudo HGNC:10177 INFERRED 5688425 RNU4-10P RNA, U4 small nuclear 10, pseudogene 13 13 q22.1 73765665 73765804 + 73191528 73191667 + 100862676 ABBA01050345;AL158191;AMYH02028262;NG_032106 pseudo HGNC:42508 INFERRED 1352419 RNU3P4 RNA, U3 small nucleolar pseudogene 4 3 3 3 q27.1 181327861 181327931 - 182892725 182892795 - 183174937 183175007 - 6186397 26842 ABBA01058485;AC104641;AMYH02008278;K00775;NG_001253 U3;U3.6 pseudo HGNC:10178 INFERRED 1350883 RNU4-1B RNA, U4 small nuclear 1B 12 12 q24.31 120362677 120362820 - 120729563 120729706 - 6169000 26836 K00472;NR_002759 RNU4B1;U4A;U4b rna, u4b1 small nuclear snrna HGNC:10191 1350847 RNU2-2P RNA, U2 small nuclear 2, pseudogene 11 11 11 q12.3 59932490 59932627 - 62609096 62609233 - 62841624 62841761 - 6238232 26855 ABBA01003246;AMYH02024900;AP001160;K02847;NR_002761 1792376 PMC150226P1 RNU2-2;RNU2B;U2 APPROVED snrna HGNC:10152 VALIDATED 1349079 RNU4-3P RNA, U4 small nuclear 3, pseudogene 18 18 18 q12.2 30652604 30652806 + 33844700 33844902 + 36264737 36264939 + 2582241 26841 ABBA01022431;AC023043;AMYH02034566;M11384;NG_001252;X02651 RNU4P3;U4;U4/4 APPROVED pseudo HGNC:10196 INFERRED 1346431 RNU4-4P RNA, U4 small nuclear 4, pseudogene 3 3 q26.31 170913226 170913428 - 172514198 172514400 - 2582241 26840 AC108667;NG_001251;X02652 1340924;7184450 D3S1556 RNU4P4;U4;U4/5 APPROVED pseudo HGNC:10197 INFERRED 1354125 RNU4-2 RNA, U4 small nuclear 2 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin 12 12 12 q24.31 120362680 120362820 - 120729566 120729706 - 120291763 120291903 - 6480464 3582982;6169000;9847074 26834 ABBA01020106;AC004263;AMYH02027367;K00472;K00473;M15957;NR_003137 1793894 PMC30488P1 RNU4-1B;RNU4B1;RNU4C;U4A;U4b;U4c rna, u4c small nuclear snrna ENSG00000202538 HGNC:10193 PROVISIONAL 1343805 RNU4-5P RNA, U4 small nuclear 5, pseudogene 10 10 10 q25.1 105361248 105361450 + 111629564 111629766 + 109869806 109870008 + 2582241 26839 ABBA01063040;AL354951;AMYH02023792;NG_001250;X02653 RNU4P5;U4;U4/6 APPROVED pseudo HGNC:10198 INFERRED 1344410 RNU12 RNA, U12 small nuclear 22 22 22 q13.2 26921735 26921883 + 43011251 43011399 + 42615245 42615393 + 2973606;7489523 267010 ABBA01017933;AMYH02038464;J04119;L43846;NR_029422;Z93241 Hs.574857 RNU12-1;RNU12L;RNU12P;dJ222E13.7 APPROVED snrna ENSG00000276027 HGNC:19380 VALIDATED 1351832 RNU4-6P RNA, U4 small nuclear 6, pseudogene X X X p22.2 21011397 21011600 - 16893240 16893443 - 16875117 16875320 - 2582241 26838 ABBA01071482;AL929302;AMYH02038935;NG_001249;X02654 2167943 AFMB343YD5 RNU4P6;U4;U4/8 APPROVED pseudo HGNC:10199 INFERRED 5688424 RNU4-9P RNA, U4 small nuclear 9, pseudogene 13 13 q12.11 21612668 21612806 - 21038529 21038667 - 100862675 ABBA01068597;AL161613;AMYH02027653;NG_032105 FLJ13161 pseudo HGNC:42507 INFERRED 1343871 RNU4-7P RNA, U4 small nuclear 7, pseudogene 6 6 6 q25.1 151382619 151383118 - 150647700 150648199 - 150326564 150327063 - 2583518 6069 ABBA01025662;AL357561;AMYH02014705;M24746;NG_001186 RNU4P1;U4;U4/7 APPROVED pseudo HGNC:10194 INFERRED 1347384 RNU4A RNA, U4A small nuclear 12384583;14691257;2176635;6169000 26837 V00592;X59361 U4 snrna HGNC:10190 1351806 RNU4-8P RNA, U4 small nuclear 8, pseudogene 2 2 2 q11.2 92484735 92485413 - 98280755 98281433 - 97664292 97664970 - 2583518 6070 ABBA01073975;AC017099;AMYH02004375;M24745;NG_001187 RNU4P2;U4;U4/14 APPROVED pseudo HGNC:10195 INFERRED 1342825 RNU4-1 RNA, U4 small nuclear 1 12 12 12 q24.31 120364011 120364154 - 120730897 120731040 - 120293094 120293237 - 12384583;14691257;17332742;17632523;2176635;23221635;3582982;6169000;9847074 26835 ABBA01020106;AC004263;AMYH02027367;M15956;NR_003925;V00592;X59361 RNU4A;RNU4B2;U4;U4BL rna, u4b2 small nuclear snrna ENSG00000200795 HGNC:10192 PROVISIONAL 6481445 RNU4ATAC2P RNA, U4atac small nuclear 2, pseudogene 5 5 158745050 158745175 + 159318042 159318167 + 100873889 ABBA01044239;AC011418;AMYH02012586;NG_032648 pseudo HGNC:39003 INFERRED 1354124 RNU5A RNA, U5A small nuclear 1302268 1310151 6164980 26833 X04215 U5A snrna HGNC:10211 180691 2302447 RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011] 2 2 2 q14.2 115613101 115613230 + 122288456 122288585 + 121530880 121531009 + 7240710;8699517;8554872 11971955;12374753;14691257;21474760;21474761;21815888;21990275;22581640;23794361;2409455;24865609;8791582 100151683 ABBA01032241;AC012447;AMYH02004675;NG_029832;NR_023343 Hs.689638 MOPD1;RNU4ATAC1;TALS;U4ATAC APPROVED snrna ENSG00000264229 HGNC:34016 210710;601428 REVIEWED 1353881 RNU5A-1 RNA, U5A small nuclear 1 15 15 15 q22.31 42466552 42466668 + 65588389 65588505 + 65296051 65296167 + 1302268 1310151 17632523;22751105;23022480;6164980;6200827 26831 ABBA01038856;AC068213;AMYH02030625;K03167;NR_002756;X04215 RNU5;RNU5A;RNU5C;U5A;U5B1 APPROVED snrna ENSG00000199568 HGNC:10211 180691 VALIDATED 6481472 RNU5A-2P RNA, U5A small nuclear 2, pseudogene 100873830 AC006287;NG_032610 pseudo HGNC:42515 INFERRED 6481511 RNU5A-4P RNA, U5A small nuclear 4, pseudogene 13 13 34403676 34403786 - 33829539 33829649 - 100873870 ABBA01010162;AL139081;AMYH02027840;NG_032643 pseudo HGNC:42521 INFERRED 6481477 RNU5A-5P RNA, U5A small nuclear 5, pseudogene 1 1 231806381 231806496 + 231670635 231670750 + 100873835 ABBA01033043;AL359543;AMYH02002893;NG_032615 pseudo HGNC:42525 INFERRED 6481474 RNU5A-3P RNA, U5A small nuclear 3, pseudogene 8 8 30501206 30501319 + 30643689 30643802 + 100873831 ABBA01023662;AC102945;AMYH02017716;NG_032611 pseudo HGNC:42519 INFERRED 6481513 RNU5A-6P RNA, U5A small nuclear 6, pseudogene 18 18 21704134 21704249 - 24124170 24124285 - 100873871 ABBA01022620;AC090772;AMYH02034430;NG_032644 pseudo HGNC:42527 INFERRED 6481517 RNU5A-7P RNA, U5A small nuclear 7, pseudogene 100873872 AC012158;NG_032645 pseudo HGNC:42529 INFERRED 6481483 RNU5A-8P RNA, U5A small nuclear 8, pseudogene 1 1 210547498 210547611 - 210374154 210374267 - 100873838 ABBA01048200;AL034351;AMYH02002609;NG_032618 pseudo HGNC:42530 INFERRED 2293168 RNU5B-2P RNA, U5B small nuclear 2, pseudogene 3 3 p22.1 40483174 40483260 - 40540408 40540494 - 100147750 AC121754;NG_007589 2187142 RH65996 APPROVED pseudo HGNC:34182 INFERRED 1345743 RNU5B-1 RNA, U5B small nuclear 1 15 15 15 q22.31 42475189 42475305 + 65597015 65597131 + 65304677 65304793 + 1302268 1310151 22751105;6164980 26832 ABBA01038855;AC105129;AMYH02030625;NR_002757;X04293 RNU5B;RNU5B-1P;U5B1 snrna ENSG00000200156 HGNC:10212 VALIDATED 2293166 RNU5B-4P RNA, U5B small nuclear 4, pseudogene 5 5 5 q31.2 134903875 134903986 + 138783596 138783707 + 139447907 139448018 + 100147752 ABBA01068638;AC142391;AMYH02012319;NG_007591 1339471 D5S594 APPROVED pseudo HGNC:34184 VALIDATED 2293167 RNU5B-3P RNA, U5B small nuclear 3, pseudogene 3 3 3 p21.31 45013962 45014033 - 45076010 45076081 - 45034518 45034589 - 100147751 ABBA01024733;AC104165;AMYH02006653;NG_007590 2108585;2121211 RH70861;TNA_8680 APPROVED pseudo HGNC:34183 INFERRED 2293165 RNU5B-5P RNA, U5B small nuclear 5, pseudogene 9 9 9 q33.3 98837185 98837272 + 128188068 128188155 + 125425789 125425876 + 100147753 ABBA01043789;AL627223;AMYH02021650;NG_007592 APPROVED pseudo HGNC:34185 VALIDATED 2293164 RNU5B-6P RNA, U5B small nuclear 6, pseudogene 10 10 q25.1 104684314 104684391 - 110944688 110944765 - 100147754 AL138766;NG_007593 APPROVED pseudo HGNC:34186 INFERRED 6481482 RNU5D-2P RNA, U5D small nuclear 2, pseudogene 9 9 135297028 135297077 + 132421641 132421690 + 100873841 ABBA01032487;AL353701;AMYH02021806;NG_032621 pseudo HGNC:42534 INFERRED 1350907 RNU5D-1 RNA, U5D small nuclear 1 4 1 1 p34.1 13265086 13265130 + 45196741 45196840 - 44731069 44731168 - 1302268 1310151 26830 AL122004;AMYH02000918;M77838;NR_002755 RNU5D;U5DL;U5DS APPROVED snrna ENSG00000200169 HGNC:10214 VALIDATED 6481444 RNU5E-10P RNA, U5E small nuclear 10, pseudogene 11 11 47598023 47598140 - 47576471 47576588 - 100873888 ABBA01060699;AC104942;AMYH02024734;NG_032647 pseudo HGNC:42533 INFERRED 6481512 RNU5E-5P RNA, U5E small nuclear 5, pseudogene 100873869 AC093024;NG_032642 pseudo HGNC:42520 INFERRED 6481473 RNU5E-2P RNA, U5E small nuclear 2, pseudogene 1 1 236026688 236026737 - 235863388 235863437 - 100873827 ABBA01033145;AL133286;AMYH02002952;NG_032607 pseudo HGNC:42511 INFERRED 6481470 RNU5E-3P RNA, U5E small nuclear 3, pseudogene 4 4 48576470 48576537 - 48574453 48574520 - 100873828 ABBA01014352;AC096952;AMYH02009168;NG_032608 pseudo HGNC:42512 INFERRED 6481471 RNU5E-4P RNA, U5E small nuclear 4, pseudogene 1 1 11969865 11969984 - 11909808 11909927 - 100873829 ABBA01003062;AL021155;AMYH02000303;NG_032609 pseudo HGNC:42513 INFERRED 6481479 RNU5E-7P RNA, U5E small nuclear 7, pseudogene 2 2 16005059 16005175 + 15864935 15865051 + 100873836 ABBA01015684;AC113608;AMYH02003316;NG_032616 pseudo HGNC:42526 INFERRED 6481481 RNU5E-8P RNA, U5E small nuclear 8, pseudogene 100873837 AC068303;NG_032617 pseudo HGNC:42528 INFERRED 6481476 RNU5E-6P RNA, U5E small nuclear 6, pseudogene 1 1 45285555 45285669 - 44819883 44819997 - 100873832 ABBA01050907;AL592166;AMYH02000919;NG_032612 pseudo HGNC:42522 INFERRED 6481480 RNU5E-9P RNA, U5E small nuclear 9, pseudogene 2 2 179007275 179007378 + 178142548 178142651 + 100873840 ABBA01062241;AC011238;AMYH02005322;NG_032620 pseudo HGNC:42532 INFERRED 6481466 RNU5F-2P RNA, U5F small nuclear 2, pseudogene 1 1 179545403 179545484 + 179576268 179576349 + 100873826 ABBA01027812;AL160286;AMYH02002235;NG_032606 pseudo HGNC:42510 INFERRED 1344416 RNU5F-1 RNA, U5F small nuclear 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH dasatinib (anhydrous) 22 1 1 p34.1 14106517 14106577 - 45187458 45187573 - 44721786 44721901 - 1302268;6480464;8554872 1310151 26828 ABBA01050915;AL122004;AMYH02000918;M77840;NR_002753 RNU5F;U5F APPROVED snrna ENSG00000199377 HGNC:10216 VALIDATED 6481503 RNU5F-3P RNA, U5F small nuclear 3, pseudogene 18 18 6017722 6017838 - 6017723 6017839 - 100873866 ABBA01049887;AMYH02034251;AP001021;NG_032639 pseudo HGNC:42514 INFERRED 6481506 RNU5F-4P RNA, U5F small nuclear 4, pseudogene 12 12 31747027 31747140 - 31594093 31594206 - 100873867 ABBA01031747;AC022080;AMYH02026279;NG_032640 pseudo HGNC:42516 INFERRED 6481510 RNU5F-5P RNA, U5F small nuclear 5, pseudogene 22 22 30306777 30306829 - 29910788 29910840 - 100873868 ABBA01055287;AC004819;AMYH02038209;NG_032641 pseudo HGNC:42518 INFERRED 6481475 RNU5F-6P RNA, U5F small nuclear 6, pseudogene 100873833 AL357512;NG_032613 pseudo HGNC:42523 INFERRED 6481485 RNU5F-8P RNA, U5F small nuclear 8, pseudogene 100873839 AL358176;NG_032619 pseudo HGNC:42531 INFERRED 6481478 RNU5F-7P RNA, U5F small nuclear 7, pseudogene X X 15934312 15934426 - 15916189 15916303 - 100873834 ABBA01071364;AC004106;AMYH02038920;NG_032614 pseudo HGNC:42524 INFERRED 1343798 RNU6-1 RNA, U6 small nuclear 1 15 15 15 q23 45020334 45020439 - 68132278 68132383 - 67839940 67840045 - 12711679;15469824;17332742;17632523;20125193;22246180;23022480;23319000;23426875;3360322 26827 ABBA01038789;AC009292;AMYH02030674;M14486;NR_004394 1792586 PMC154217P4 RNU6;RNU6A;U6;U6-1 snrna ENSG00000206625 HGNC:10227 180692 PROVISIONAL 2312691 RNU6-15P RNA, U6 small nuclear 15, pseudogene 10 10 10 21298523 21298629 + 21610890 21610996 + 21321961 21322067 + 100302741 ABBA01034504;AL731547;AMYH02022417;NR_028372 RNU6-15 APPROVED snrna ENSG00000207264 HGNC:34259 PROVISIONAL 6481595 RNU6-14P RNA, U6 small nuclear 14, pseudogene 9 9 15776179 15776284 - 15776181 15776286 - 100873746 ABBA01065268;AL359877;AMYH02019214;NR_046485 RNU6-14 APPROVED snrna ENSG00000207360 HGNC:34258 PROVISIONAL 6481599 RNU6-10P RNA, U6 small nuclear 10, pseudogene 7 7 92331022 92331128 - 92701708 92701814 - 100873745 ABBA01045797;AC004128;AMYH02016269;NR_046484 RNU6-10 APPROVED snrna HGNC:34254 PROVISIONAL 6481601 RNU6-16P RNA, U6 small nuclear 16, pseudogene 11 11 88345973 88346079 - 88612805 88612911 - 100873753 ABBA01011532;AMYH02025263;AP006215;NR_046486 RNU6-16 APPROVED snrna HGNC:34260 PROVISIONAL 8695553 RNU6-2 RNA, U6 small nuclear 2 p13.3 12711679 103625684 AC004528;NR_125730 U6-2 snrna HGNC:34270 VALIDATED 6481603 RNU6-23P RNA, U6 small nuclear 23, pseudogene 16 16 70479199 70479302 - 70445296 70445399 - 100873755 ABBA01010661;AC012184;AMYH02032305;NR_046488 RNU6-23 APPROVED snrna ENSG00000200153 HGNC:34267 PROVISIONAL 6481604 RNU6-19P RNA, U6 small nuclear 19, pseudogene 15 15 65845419 65845525 - 65553081 65553187 - 100873754 ABBA01038847;AC011846;AMYH02030631;NR_046487 RNU6-19 APPROVED snrna ENSG00000207449 HGNC:34263 PROVISIONAL 2312694 RNU6-21P RNA, U6 small nuclear 21, pseudogene 16 16 16 46725018 46725124 - 62221444 62221550 - 62187540 62187646 - 100302738 ABBA01025356;AC092124;AMYH02032171;NR_028369 RNU6-21 APPROVED snrna ENSG00000207441 HGNC:34265 PROVISIONAL 6481586 RNU6-26P RNA, U6 small nuclear 26, pseudogene 3 3 98523822 98523928 - 98804978 98805084 - 100873741 ABBA01061814;AC106728;AMYH02007290;NR_046483 RNU6-26;RNU6-8 APPROVED snrna HGNC:34252 PROVISIONAL 6481606 RNU6-28P RNA, U6 small nuclear 28, pseudogene 22 22 31875371 31875474 - 31479385 31479488 - 100873756 ABBA01055333;AL096701;AMYH02038239;NR_046489 RNU6-28 APPROVED snrna HGNC:34272 PROVISIONAL 6481598 RNU6-30P RNA, U6 small nuclear 30, pseudogene X X 100888994 100889100 - 101634006 101634112 - 100873747 ABBA01045008;AC234775;AL121883;AMYH02040068;NR_046490 RNU6-30 APPROVED snrna ENSG00000207291 HGNC:34274 PROVISIONAL 6481593 RNU6-33P RNA, U6 small nuclear 33, pseudogene 4 4 89605999 89606105 - 88684848 88684954 - 100873748 ABBA01063555;AC108065;AMYH02009698;NR_046491 RNU6-33 APPROVED snrna ENSG00000207524 HGNC:34277 PROVISIONAL 6481596 RNU6-35P RNA, U6 small nuclear 35, pseudogene 4 4 110913481 110913587 + 109992325 109992431 + 100873750 ABBA01063786;AC004050;AMYH02009902;NR_046493 RNU6-35 APPROVED snrna HGNC:34279 PROVISIONAL 6481587 RNU6-31P RNA, U6 small nuclear 31, pseudogene 2 2 201694732 201694839 + 200830009 200830116 + 100873740 ABBA01062521;AC005037;AMYH02005541;NR_046482 RNU6-31;RNU6-6 APPROVED snrna ENSG00000207116 HGNC:34250 PROVISIONAL 6481602 RNU6-34P RNA, U6 small nuclear 34, pseudogene 4 4 97073450 97073554 - 96152299 96152403 - 100873749 ABBA01063638;AC096661;AMYH02009769;NR_046492 RNU6-34 APPROVED snrna ENSG00000201744 HGNC:34278 PROVISIONAL 6481519 RNU6-36P RNA, U6 small nuclear 36, pseudogene 12 12 98115494 98115600 + 97721716 97721822 + 100873757 ABBA01053298;AC007424;AMYH02027030;NR_046494 RNU6-36 APPROVED snrna ENSG00000206899 HGNC:34280 PROVISIONAL 6481521 RNU6-39P RNA, U6 small nuclear 39, pseudogene 18 18 66526171 66526277 + 68858934 68859040 + 100873758 ABBA01056275;AC096708;AMYH02034921;NR_046495 RNU6-39 APPROVED snrna HGNC:34283 PROVISIONAL 6481523 RNU6-45P RNA, U6 small nuclear 45, pseudogene 11 11 63737942 63738048 + 63970470 63970576 + 100873759 ABBA01003282;AMYH02024925;AP000721;NR_046496 RNU6-45 APPROVED snrna ENSG00000207200 HGNC:34289 PROVISIONAL 2312690 RNU6-42P RNA, U6 small nuclear 42, pseudogene 3 3 3 195092958 195093064 - 196511851 196511957 - 196784980 196785086 - 100302742 ABBA01033756;AC055725;AMYH02008497;NR_028373 RNU6-42 APPROVED snrna ENSG00000206892 HGNC:34286 PROVISIONAL 6481525 RNU6-46P RNA, U6 small nuclear 46, pseudogene 11 11 67663102 67663208 + 67895631 67895737 + 100873760 ABBA01024022;AMYH02025000;AP003716;NR_046497 RNU6-46 APPROVED snrna ENSG00000206587 HGNC:34290 PROVISIONAL 6483751 RNU6-48P RNA, U6 small nuclear 48, pseudogene 1 1 27651710 27651816 + 27325219 27325325 + 100887744 ABBA01034969;AL663123;AMYH02000599;FO393419;NR_103808 KIAA1037;RNU6-48 APPROVED snrna HGNC:34292 PROVISIONAL 6481520 RNU6-52P RNA, U6 small nuclear 52, pseudogene 13 13 19717122 19717217 + 19142982 19143077 + 100873761 ABBA01068549;AL139327;AMYH02027608;NR_046927 RNU6-52 APPROVED snrna HGNC:42542 PROVISIONAL 1351539 RNU6-50P RNA, U6 small nuclear 50, pseudogene X X p11.3 50568902 50569179 + 46377058 46377335 + 22246180;2998934 26825 AL031393;K03026;NG_001248 RNU6-50;RNU6P1;U6 APPROVED pseudo HGNC:10229 INFERRED 6481524 RNU6-53P RNA, U6 small nuclear 53, pseudogene 13 13 29277839 29277944 - 28703702 28703807 - 20708005 100873762 ABBA01035723;AL359454;AMYH02027770;NR_046928 RNU6-53 APPROVED snrna HGNC:42543 PROVISIONAL 1346894 RNU5E-1 RNA, U5E small nuclear 1 1 1 1 p36.22 11081844 11081962 + 11968211 11968329 + 11908154 11908272 + 1302268 1310151 26829 ABBA01003062;AL021155;M77839;NR_002754 RNU5E;U5E APPROVED snrna ENSG00000199347 HGNC:10215 PROVISIONAL 6481526 RNU6-55P RNA, U6 small nuclear 55, pseudogene 13 13 19443325 19443431 - 18869185 18869291 - 100873763 ABBA01068539;AC203639;AC245149;AL391382;NR_046929 RNU6-55 APPROVED snrna ENSG00000223024 HGNC:42545 PROVISIONAL 6481529 RNU6-56P RNA, U6 small nuclear 56, pseudogene 13 13 39353561 39353653 + 38779424 38779516 + 100873764 ABBA01021320;AL590007;AMYH02027893;NR_046930 RNU6-56 APPROVED snrna HGNC:42546 PROVISIONAL 6481530 RNU6-57P RNA, U6 small nuclear 57, pseudogene 13 13 41928693 41928795 - 41354557 41354659 - 100873765 ABBA01021272;AL590665;AMYH02027919;NR_046931 RNU6-57 APPROVED snrna ENSG00000223280 HGNC:42547 PROVISIONAL 6481533 RNU6-59P RNA, U6 small nuclear 59, pseudogene 13 13 22125443 22125549 - 21551304 21551410 - 100873767 ABBA01068607;AL138680;AMYH02027661;NR_046933 RNU6-59 APPROVED snrna HGNC:42549 PROVISIONAL 6481527 RNU6-58P RNA, U6 small nuclear 58, pseudogene 13 13 23791571 23791673 - 23217432 23217534 - 100873766 ABBA01007869;AL356287;AMYH02027690;NR_046932 RNU6-58 APPROVED snrna ENSG00000252952 HGNC:42548 PROVISIONAL 6481532 RNU6-63P RNA, U6 small nuclear 63, pseudogene 13 13 28062275 28062369 + 27488138 27488232 + 100873768 ABBA01035745;AL137059;AMYH02027754;NR_046934 RNU6-63 APPROVED snrna ENSG00000252499 HGNC:42553 PROVISIONAL 6481528 RNU6-64P RNA, U6 small nuclear 64, pseudogene 13 13 30855902 30856006 + 30281765 30281869 + 100873769 ABBA01035702;AL356750;AMYH02027791;NR_046935 RNU6-64 APPROVED snrna ENSG00000252928 HGNC:42554 PROVISIONAL 6481531 RNU6-67P RNA, U6 small nuclear 67, pseudogene 13 13 83872206 83872302 - 83298071 83298167 - 100873771 ABBA01021736;AL512782;AMYH02028381;NR_046937 RNU6-67 APPROVED snrna ENSG00000222791 HGNC:42557 PROVISIONAL 6481535 RNU6-66P RNA, U6 small nuclear 66, pseudogene 13 13 73687052 73687155 - 73112915 73113018 - 100873770 ABBA01050342;AL354720;AMYH02028255;NR_046936 RNU6-66 APPROVED snrna ENSG00000200267 HGNC:42556 PROVISIONAL 6481534 RNU6-69P RNA, U6 small nuclear 69, pseudogene 13 13 45711997 45712100 - 45137862 45137965 - 100873773 ABBA01021220;AL138693;AMYH02027966;NR_046939 RNU6-69 APPROVED snrna HGNC:42559 PROVISIONAL 6481538 RNU6-68P RNA, U6 small nuclear 68, pseudogene 13 13 46984589 46984692 + 46410454 46410557 + 100873772 ABBA01050988;AL138686;AMYH02027985;NR_046938 RNU6-68 APPROVED snrna ENSG00000252385 HGNC:42558 PROVISIONAL 1350166 RNU6-6P RNA, U6 small nuclear 6, pseudogene 10 10 10 p13 13186131 13186175 + 13259269 13259375 + 13217269 13217375 + 12711679;20125193;22246180;23319000;6173742 26826 ABBA01034632;AL138764;K03099;NG_034215;NR_002752 1792590;2154135 PMC154217P6;RH69595 RNU6-6;RNU6B;U6;U6-6 APPROVED pseudo ENSG00000272055 HGNC:10228 INFERRED 6481540 RNU6-71P RNA, U6 small nuclear 71, pseudogene 13 13 36841305 36841411 + 36267168 36267274 + 100873774 ABBA01021361;AL139377;AMYH02027865;NR_046940 RNU6-71 APPROVED snrna ENSG00000207203 HGNC:42561 PROVISIONAL 7249565 RNU6-7 RNA, U6 small nuclear 7 14 q12 32202045 32202151 + 12711679 101954275 ABBA01061431;AL161665;AMYH02028961;NR_104084 U6-7 snrna ENSG00000201654 HGNC:34284 VALIDATED 6481539 RNU6-75P RNA, U6 small nuclear 75, pseudogene 13 13 91434020 91434123 - 90781766 90781869 - 100873776 ABBA01027246;AL355799;AMYH02028465;NR_046942 RNU6-75 APPROVED snrna ENSG00000251753 HGNC:42565 PROVISIONAL 6481537 RNU6-72P RNA, U6 small nuclear 72, pseudogene 13 13 86158883 86158988 - 85584748 85584853 - 100873775 ABBA01012305;AL355580;AMYH02028398;NR_046941 RNU6-72 APPROVED snrna ENSG00000207012 HGNC:42562 PROVISIONAL 6481541 RNU6-78P RNA, U6 small nuclear 78, pseudogene 13 13 26091257 26091363 + 25517119 25517225 + 100873778 ABBA01007905;AL356316;AMYH02027722;NR_046944 RNU6-78 APPROVED snrna HGNC:42568 PROVISIONAL 6481536 RNU6-76P RNA, U6 small nuclear 76, pseudogene 13 13 19454194 19454297 + 18880054 18880157 + 100873777 ABBA01068539;AC203639;AC245149;AL391382;NR_046943 RNU6-76 APPROVED snrna ENSG00000206787 HGNC:42566 PROVISIONAL 6481545 RNU6-79P RNA, U6 small nuclear 79, pseudogene 13 13 73455246 73455352 - 72881108 72881214 - 100873779 ABBA01050337;AL391384;AMYH02028252;NR_046945 RNU6-79 APPROVED snrna ENSG00000199381 HGNC:42569 PROVISIONAL 7248844 RNU6-8 RNA, U6 small nuclear 8 14 q12 32203163 32203269 - 12711679 101954278 ABBA01061431;AL161665;AMYH02028961;NR_104088 U6-8 snrna ENSG00000202337 HGNC:34285 VALIDATED 6481542 RNU6-81P RNA, U6 small nuclear 81, pseudogene 13 13 64357934 64358037 + 63783801 63783904 + 100873780 ABBA01050255;AL445238;AMYH02028167;NR_046946 RNU6-81 APPROVED snrna ENSG00000202478 HGNC:42571 PROVISIONAL 6481547 RNU6-82P RNA, U6 small nuclear 82, pseudogene 13 13 28806638 28806744 + 28232501 28232607 + 100873781 ABBA01035728;AL356915;AMYH02027767;NR_046947 RNU6-82 APPROVED snrna HGNC:42572 PROVISIONAL 6481544 RNU6-83P RNA, U6 small nuclear 83, pseudogene 13 13 99677488 99677599 + 99025234 99025345 + 100873782 ABBA01027132;AL391122;AMYH02028585;NR_046948 RNU6-83 APPROVED snrna ENSG00000207298 HGNC:42573 PROVISIONAL 7251742 RNU6-9 RNA, U6 small nuclear 9 19 p13.3 893484 893590 + 12711679 101954271 ABBA01002607;AC112706;AMYH02035127;NR_104080 U6-9 snrna ENSG00000207507 HGNC:34269 VALIDATED 2302446 RNU6ATAC RNA, U6atac small nuclear (U12-dependent splicing) 9 9 9 q34.2 107574837 107574961 - 137029562 137029686 - 134164440 134164564 - 11971955;12374753;14691257;2409455;8791582 100151684 ABBA01021994;AMYH02021846;BX649601;NR_023344 Hs.545589 RNU6ATAC1;U6ATAC snrna ENSG00000221676 HGNC:34017 601429 PROVISIONAL 2311264 RNU6ATAC4P RNA, U6atac small nuclear 4, pseudogene 3 3 3 p22.2 36952447 36952571 - 37009683 37009807 - 36968192 36968316 - 100151687 ABBA01024860;AC011816;AMYH02006550;NG_007722 APPROVED pseudo HGNC:34094 INFERRED 2311265 RNU6ATAC3P RNA, U6atac small nuclear 3, pseudogene 17 17 17 q21.32 41448004 41448128 + 44998490 44998614 + 46921124 46921248 + 100151686 ABBA01041106;AC005670;AMYH02033514;NG_007721;NG_031806 APPROVED pseudo HGNC:34093 INFERRED 2311266 RNU6ATAC2P RNA, U6atac small nuclear 2, pseudogene 5 5 5 q11.2 52547054 52547178 - 55593392 55593516 - 56297565 56297689 - 100151685 ABBA01015762;AC016638;AMYH02011328;NG_007720 APPROVED pseudo HGNC:34092 INFERRED 2311263 RNU6ATAC5P RNA, U6atac small nuclear 5, pseudogene 4 4 4 q13.3 71248543 71248667 + 73892465 73892589 + 73026748 73026872 + 9847074 100151688 ABBA01022984;AC095053;AMYH02009455;NG_007723 APPROVED pseudo HGNC:34095 INFERRED 2293174 RNU7-1 RNA, U7 small nuclear 1 12 12 12 p13.31 8671600 8671662 + 7052979 7053041 + 6943816 6943878 + 18267300;8723724;9074930 100147744 ABBA01017669;AMYH02025958;NG_034262;NR_023317;U47924 2137943 RH11235 RNU7;U7.1 APPROVED snrna ENSG00000238923 HGNC:34033 PROVISIONAL 1346459 RNU6V RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence 1 1 1 p13 108403226 108403561 - 110133927 110134262 - 109591305 109591640 - 1829158 6071 ABBA01068380;AL355310;AMYH02001711;NG_009877;NG_032795;X54048 1706980;5119482 D1S3455;SHGC-80989 87U6;LH87 pseudo HGNC:10230 INFERRED 2293289 RNU7-10P RNA, U7 small nuclear 10 pseudogene 3 3 3 p24.3 17644810 17644868 + 17706459 17706516 + 17664967 17665024 + 18267300 100147758 ABBA01025120;AC104451;AMYH02006351;NG_007597 U7.10 pseudo HGNC:34106 INFERRED 2293288 RNU7-11P RNA, U7 small nuclear 11 pseudogene 4 4 4 p14 40060451 40060511 + 39622632 39622692 + 39621012 39621072 + 18267300;9847074 100147759 ABBA01004127;AC108471;AMYH02009056;NG_007598 U7.11 pseudo HGNC:34107 INFERRED 2293287 RNU7-12P RNA, U7 small nuclear 12 pseudogene 10 10 10 p12.1 27237516 27237771 - 27521188 27521245 - 27232259 27232316 - 18267300 100147760 AL160291;AMYH02022510;NG_007599 FLJ10376;RNU7-100P;U7.12 pseudo HGNC:34108 INFERRED 2293286 RNU7-13P RNA, U7 small nuclear 13 pseudogene 1 1 1 q25.3 157901556 157901615 - 184790564 184790623 - 184821430 184821489 - 18267300 100147761 ABBA01027729;AL136086;AMYH02002294;NG_007600 U7.13 pseudo HGNC:34109 INFERRED 2293284 RNU7-15P RNA, U7 small nuclear 15 pseudogene 5 5 5 q31.1 128306955 128307013 - 132176941 132176999 - 132841249 132841307 - 18267300 100147763 ABBA01068797;AC004500;AMYH02012220;NG_007602 1829118;1842032;2001994;2001996;2001998;2002000;2002002;2002004;2002006;2002008;2002010;2096546 ECD15686;ECD22219;REN71909;REN71910;REN71911;REN71912;REN71913;REN71914;REN71915;REN71916;REN71917;stSG601566 U7.15 pseudo HGNC:34111 INFERRED 2293283 RNU7-16P RNA, U7 small nuclear 16 pseudogene 7 7 7 q32.1 123842217 123842278 + 129045476 129045537 + 129405635 129405696 + 18267300 100147764 ABBA01057635;AC009244;AMYH02016732;CH236950;NG_007603;NG_029180 U7.16 pseudo HGNC:34112 INFERRED 2293285 RNU7-14P RNA, U7 small nuclear 14 pseudogene 20 20 20 q13.2 48989913 48989972 - 52285237 52285296 - 53668698 53668757 - 18267300 100147762 ABBA01052855;AC005914;AMYH02037297;NG_007601 U7.14 pseudo HGNC:34110 INFERRED 2293276 RNU7-23P RNA, U7 small nuclear 23 pseudogene 11 11 11 q13.2 64015511 64015570 + 66687234 66687293 + 66919763 66919822 + 18267300 100147771 ABBA01024059;AP003176;NG_007610 U7.23 pseudo HGNC:34119 INFERRED 2293278 RNU7-21P RNA, U7 small nuclear 21 pseudogene 9 9 q34.13 106380867 106380927 + 135839120 135839180 + 18267300 100147769 AL593851;NG_007608 U7.21 pseudo HGNC:34117 INFERRED 2293277 RNU7-22P RNA, U7 small nuclear 22 pseudogene 10 10 32462613 32462671 + 32173685 32173743 + 18267300 100147770 ABBA01033387;AL445071;AMYH02022580;NG_007609 U7.22 pseudo HGNC:34118 INFERRED 2293282 RNU7-17P RNA, U7 small nuclear 17 pseudogene 18 18 18 q11.2 16429743 16429804 + 19623318 19623379 + 22043357 22043418 + 18267300 100147765 ABBA01022668;AC091043;AMYH02034392;NG_007604 U7.17 pseudo HGNC:34113 INFERRED 2293280 RNU7-19P RNA, U7 small nuclear 19 pseudogene 3 3 3 p13 73011116 73011175 + 73076962 73077021 + 73027811 73027870 + 18267300 100147767 ABBA01030958;AC098481;AC103559;AMYH02007066;NG_007606 U7.19 pseudo HGNC:34115 INFERRED 2293281 RNU7-18P RNA, U7 small nuclear 18 pseudogene 3 3 3 q29 194384134 194384192 + 195799691 195799749 + 196072820 196072878 + 18267300 100147766 ABBA01033706;AC024937;AC245464;NG_007605 2151013 SHGC-58250 RNU7-142P;U7.18 pseudo HGNC:34114 INFERRED 2293279 RNU7-20P RNA, U7 small nuclear 20 pseudogene 7 7 7 q36.1 143188530 143188584 + 148518107 148518161 + 148821015 148821069 + 12853948;18267300 100147768 ABBA01033596;AC006323;AMYH02017030;NG_007607;NG_032043 1713489 RH120228 U7.20 pseudo HGNC:34116 INFERRED 1351616 RNU7-24P RNA, U7 small nuclear 24 pseudogene 16 16 p12.1 23189276 23189330 - 24411383 24411437 - 10493829;18267300;2249787 6074 AC004125;M35539;NG_007611 HSU7.24;HSU7.25;RNU7-24P;RNU7P3;U7;U7.24 rna, u7 small nuclear pseudogene 3 APPROVED pseudo HGNC:34120 INFERRED 2293275 RNU7-25P RNA, U7 small nuclear 25 pseudogene 18 18 18 p11.31 2969205 2969267 + 3093567 3093629 + 3093569 3093631 + 18267300 100147812 ABBA01049844;AMYH02034219;AP005431;NG_007619;NG_032120 U7.25 pseudo HGNC:34121 INFERRED 2293271 RNU7-29P RNA, U7 small nuclear 29 pseudogene 1 1 1 p35.3 26866311 26866369 - 28470667 28470725 - 28144156 28144214 - 18267300 100147816 ABBA01035013;AL137792;AMYH02000619;NG_007623 U7.29 pseudo HGNC:34125 INFERRED 2293273 RNU7-27P RNA, U7 small nuclear 27 pseudogene 7 7 7 q32.1 122787258 122787315 + 127984136 127984193 + 128344082 128344139 + 18267300 100147814 ABBA01057677;AC010655;AMYH02016714;NG_007621;NG_015802 U7.27 pseudo HGNC:34123 INFERRED 2293272 RNU7-28P RNA, U7 small nuclear 28 pseudogene 11 11 11 p15.4 9986796 9986854 - 9865364 9865422 - 9843817 9843875 - 18267300 100147815 ABBA01061163;AC026250;AMYH02024324;NG_007622 U7.28 pseudo HGNC:34124 INFERRED 2293274 RNU7-26P RNA, U7 small nuclear 26 pseudogene 6 6 6 p22.1 29471317 29471376 - 27865284 27865343 - 27897506 27897565 - 18267300 100147813 ABBA01038011;AMYH02013390;NG_007620;Z98744 U7.26 pseudo HGNC:34122 INFERRED 2293173 RNU7-2P RNA, U7 small nuclear 2 pseudogene 2 2 2 q22.3 140615802 140615862 + 146902724 146902784 + 146145156 146145216 + 18267300 100147745 ABBA01028036;AC009476;AMYH02004931;NG_007583 1725495 RH119144 U7.2 pseudo HGNC:34098 INFERRED 2293270 RNU7-30P RNA, U7 small nuclear 30 pseudogene 14 14 14 q32.11 71605858 71605918 + 91557420 91557480 + 91091076 91091136 + 18267300 100147817 ABBA01030487;AL121784;AMYH02029738;NG_007624 U7.30 pseudo HGNC:34126 INFERRED 2293265 RNU7-35P RNA, U7 small nuclear 35 pseudogene 7 7 7 p14.1 43223955 43224015 + 43234021 43234081 + 43194422 43194482 + 18267300;9847074 100147822 ABBA01058181;AC004455;AMYH02015607;CH236951;NG_007629 U7.35 pseudo HGNC:34131 INFERRED 2293267 RNU7-33P RNA, U7 small nuclear 33 pseudogene 4 4 p16.3 2991459 2991517 - 3080211 3080269 - 18267300 100147820 AL390059;NG_007627 U7.33 pseudo HGNC:34129 INFERRED 2293266 RNU7-34P RNA, U7 small nuclear 34 pseudogene 5 5 5 q23.1 114040839 114040900 + 118093907 118093968 + 118758212 118758273 + 18267300 100147821 ABBA01068989;AC093206;AMYH02012047;NG_007628 U7.34 pseudo HGNC:34130 INFERRED 2293262 RNU7-38P RNA, U7 small nuclear 38 pseudogene 10 10 10 q22.1 66887069 66887124 - 73604494 73604549 - 71844737 71844792 - 18267300 100147825 ABBA01020372;AC073370;AMYH02023302;NG_007632 U7.38 pseudo HGNC:34134 INFERRED 2293268 RNU7-32P RNA, U7 small nuclear 32 pseudogene 3 3 3 q26.2 168278010 168278068 + 169878724 169878782 + 170160936 170160994 + 18267300 100147819 ABBA01058693;AC023891;AMYH02008108;NG_007626 U7.32 pseudo HGNC:34128 INFERRED 2293264 RNU7-36P RNA, U7 small nuclear 36 pseudogene 9 9 9 p13.3 33950052 33950106 - 34018264 34018318 - 34018266 34018320 - 18267300 100147823 ABBA01065029;AL354989;AMYH02019435;NG_007630 FLJ20347;RNU7-112P;U7.36 pseudo HGNC:34132 INFERRED 2293261 RNU7-39P RNA, U7 small nuclear 39 pseudogene 12 12 12 q13.12 50207005 50207063 + 51404782 51404840 + 51010999 51011057 + 18267300 100147826 ABBA01031593;AC087884;AMYH02026477;NG_007633;NG_021139 U7.39 pseudo HGNC:34135 INFERRED 2293172 RNU7-3P RNA, U7 small nuclear 3 pseudogene 6 6 6 q25.1 150573181 150573240 + 149838093 149838152 + 149516957 149517016 + 18267300 100147746 ABBA01025680;AL357619;AMYH02014691;NG_007584 U7.3 pseudo HGNC:34099 INFERRED 2293257 RNU7-43P RNA, U7 small nuclear 43 pseudogene 17 17 p13.1 8445319 8445378 + 8414444 8414503 + 18267300 100147830 AC026130;NG_007637 RNU7-118P;U7.43 pseudo HGNC:34139 INFERRED 2293258 RNU7-42P RNA, U7 small nuclear 42 pseudogene 16 16 16 q22.1 53470107 53470166 - 68960801 68960860 - 68926898 68926957 - 18267300 100147829 ABBA01025509;AC009137;AMYH02032265;NG_007636 U7.42 pseudo HGNC:34138 INFERRED 2293269 RNU7-31P RNA, U7 small nuclear 31 pseudogene 17 17 p13.2 5433907 5433967 - 5417530 5417590 - 18267300 100147818 AC055839;NG_007625 U7.31 pseudo HGNC:34127 INFERRED 2293259 RNU7-41P RNA, U7 small nuclear 41 pseudogene 14 14 14 q13.2 15178651 15178710 - 35314507 35314566 - 34845301 34845360 - 18267300 100147828 ABBA01061485;AL121603;AMYH02028998;NG_007635 2164311 G35901 U7.41 pseudo HGNC:34137 INFERRED 2293260 RNU7-40P RNA, U7 small nuclear 40 pseudogene 12 12 12 q13.3 56399526 56399585 - 56746174 56746233 - 56352390 56352449 - 18267300 100147827 ABBA01008423;AC025574;AMYH02026567;NG_007634 2144932 D12S1878 U7.40 pseudo HGNC:34136 INFERRED 2293256 RNU7-44P RNA, U7 small nuclear 44 pseudogene 2 2 2 q31.1 169044275 169044536 - 175430945 175431006 - 174566217 174566278 - 18267300 100147831 ABBA01062195;AC010894;AMYH02005279;NG_007638;NG_032009 2142627 RH70933 U7.44 pseudo HGNC:34140 INFERRED 2293252 RNU7-48P RNA, U7 small nuclear 48 pseudogene 6 6 q13 71611411 71611469 + 71222998 71223056 + 18267300 100147835 AL078591;NG_007642 FLJ11049;U7.48 pseudo HGNC:34144 INFERRED 2293253 RNU7-47P RNA, U7 small nuclear 47 pseudogene 3 3 q23 140943555 140943612 + 142520052 142520109 + 18267300 100147834 AC022291;NG_007641;NG_030369 U7.47 pseudo HGNC:34143 INFERRED 2293255 RNU7-45P RNA, U7 small nuclear 45 pseudogene 2 2 2 q33.1 195761250 195761310 + 202006626 202006686 + 201141903 201141963 + 18267300 100147832 ABBA01062535;AC007283;AMYH02005548;NG_007639;NG_029005 1680723;1846981;1849295 D2S2141;RH98318;WI-12098 U7.45 pseudo HGNC:34141 INFERRED 2293254 RNU7-46P RNA, U7 small nuclear 46 pseudogene 2 2 q11.2 93662293 93662348 - 99457143 99457198 - 18267300 100147833 AC084377;NG_007640 U7.46 pseudo HGNC:34142 INFERRED 2293171 RNU7-4P RNA, U7 small nuclear 4 pseudogene 12 12 q15 68969416 68969675 + 69305602 69305861 + 18267300 100147747 AC025423;NG_007585 RNU7-132P;U7.4 pseudo HGNC:34100 INFERRED 2293251 RNU7-49P RNA, U7 small nuclear 49 pseudogene 11 11 11 p15.2 14625510 14625566 + 14500440 14500496 + 14478894 14478950 + 18267300 100147836 ABBA01061106;AC018523;AMYH02024355;NG_007643 U7.49 pseudo HGNC:34145 INFERRED 2293245 RNU7-52P RNA, U7 small nuclear 52 pseudogene 17 17 17 q23.2 54847555 54847616 + 60460465 60460526 + 62383104 62383165 + 18267300 100151648 ABBA01035355;AC008026;AMYH02033762;NG_007670 2145098 D11S4393 U7.52 pseudo HGNC:34148 INFERRED 2293243 RNU7-54P RNA, U7 small nuclear 54 pseudogene 7 7 7 q32.1 122886614 122886674 - 128083504 128083564 - 128443450 128443510 - 18267300 100151650 ABBA01057673;AC010655;AMYH02016716;NG_007672 U7.54 pseudo HGNC:34150 INFERRED 2293244 RNU7-53P RNA, U7 small nuclear 53 pseudogene 5 5 5 q23.3 125852714 125852771 - 129722315 129722372 - 130386622 130386679 - 18267300 100151649 ABBA01068843;AC004226;AMYH02012188;NG_007671 U7.53 pseudo HGNC:34149 INFERRED 2293246 RNU7-51P RNA, U7 small nuclear 51 pseudogene 14 14 14 q31.1 63557602 63557660 + 83514924 83514982 + 83048580 83048638 + 18267300 100151647 ABBA01030592;AL162872;AMYH02029641;NG_007669 U7.51 pseudo HGNC:34147 INFERRED 1348179 RNU7-55P RNA, U7 small nuclear 55 pseudogene 8 8 p23.1 8058199 8058257 - 8929966 8930024 - 18267300;2249787 6075 AC087579;M35540;NG_001191 HSU7.36;HSU7.55;RNU7P4;U7;U7.55 RNA, small nuclear U7 pseudogene 4;rna, u7 small nuclear pseudogene 4 pseudo HGNC:10239 INFERRED 2293263 RNU7-37P RNA, U7 small nuclear 37 pseudogene X X p11.22 56988913 56988971 + 53159664 53159722 + 18267300;8267300 100147824 AL139396;NG_007631 KIAA0522;U7.37 pseudo HGNC:34133 INFERRED 2293240 RNU7-58P RNA, U7 small nuclear 58 pseudogene 11 11 11 q12.1 56689013 56689068 + 59326273 59326328 + 59558800 59558855 + 18267300 100151653 ABBA01021502;AP000442;NG_007675 U7.58 pseudo HGNC:34154 INFERRED 2293241 RNU7-57P RNA, U7 small nuclear 57 pseudogene 1 1 1 q21.3 127382930 127382988 + 154311220 154311278 + 154338744 154338802 + 18267300 100151652 ABBA01049481;AL162591;AMYH02001921;NG_007674 DKFZp434M202;U7.57 pseudo HGNC:34153 INFERRED 2293239 RNU7-59P RNA, U7 small nuclear 59 pseudogene 11 11 q14.1 74585661 74585718 - 77277983 77278040 - 18267300 100151654 AP002789;NG_007676 U7.59 pseudo HGNC:34155 INFERRED 2293170 RNU7-5P RNA, U7 small nuclear 5 pseudogene 15 15 q21.1 22630079 22630138 - 45738663 45738722 - 18267300 100147748 AC025580;NG_007586 U7.5 pseudo HGNC:34101 INFERRED 2293242 RNU7-56P RNA, U7 small nuclear 56 pseudogene X X p22.2 20904366 20904424 + 16785968 16786026 + 18267300 100151651 BX004861;NG_007673 1702380 DXS7987 U7.56 pseudo HGNC:34152 INFERRED 2293238 RNU7-60P RNA, U7 small nuclear 60 pseudogene 12 12 12 p13.2 16841675 16841734 + 11699412 11699471 + 11546478 11546537 + 18267300 100151655 ABBA01067822;AC007450;AMYH02026033;NG_007677 U7.60 pseudo HGNC:34156 INFERRED 2293237 RNU7-61P RNA, U7 small nuclear 61 pseudogene 16 16 16 p11.2 29803957 29804013 + 30494459 30494515 - 30483138 30483194 - 18267300 100151656 ABBA01042030;AC116348;AC243616;NG_007678 U7.61 pseudo HGNC:34157 INFERRED 2293236 RNU7-62P RNA, U7 small nuclear 62 pseudogene 1 1 p31.3 63140008 63140267 - 64849982 64850241 - 18267300 100151657 AL513044;NG_007679 U7.62 pseudo HGNC:34158 INFERRED 2293235 RNU7-63P RNA, U7 small nuclear 63 pseudogene 16 16 16 p13.2 8968681 8968742 - 8799314 8799375 - 8705457 8705518 - 18267300 100151658 ABBA01019725;AC007224;AMYH02031407;NG_007680 U7.63 pseudo HGNC:34159 INFERRED 2293234 RNU7-64P RNA, U7 small nuclear 64 pseudogene 2 2 2 p11.2 85497315 85497372 - 85669041 85669098 - 85441918 85441975 - 18267300 100151662 ABBA01075749;AC016753;AMYH02004182;NG_007681 U7.64 pseudo HGNC:34160 INFERRED 2293233 RNU7-65P RNA, U7 small nuclear 65 pseudogene 6 6 6 p12.3 50868698 50868757 - 49312462 49312521 - 49344802 49344861 - 18267300 100151663 ABBA01050593;AL035687;AMYH02013709;FO393413;NG_007682 U7.65 pseudo HGNC:34161 INFERRED 2293231 RNU7-67P RNA, U7 small nuclear 67 pseudogene 8 8 q22.3 98504540 98504599 + 102319596 102319655 + 18267300 100151665 AP001330;NG_007684 U7.67 pseudo HGNC:34163 INFERRED 2293232 RNU7-66P RNA, U7 small nuclear 66 pseudogene 6 6 q12 65602715 65602778 - 67438735 67438798 - 18267300 100151664 AL450336;NG_007683 U7.66 pseudo HGNC:34162 INFERRED 1344928 RNU7-68P RNA, U7 small nuclear 68 pseudogene X X q24 120101609 120101865 - 119636795 119637051 - 18267300;2175614;2249787 6072 AC002476;M35537;NG_001188 HSU7.732A;RNU7P1;U7;U7.68 RNA, small nuclear U7 pseudogene 1;rna, u7 small nuclear pseudogene 1 pseudo HGNC:10236 INFERRED 2293230 RNU7-69P RNA, U7 small nuclear 69 pseudogene X X X q25 123291951 123292008 - 122905930 122905987 - 123772080 123772137 - 18267300 100151666 AL023575;AMYH02040402;NG_007685 1829662;1835240;1960864;1960866;1960868;1960870;1960872;1960874;1960876;1960878;2213386 ECD15963;ECD18775;REN51303;REN51304;REN51305;REN51306;REN51307;REN51308;REN51309;REN51310;stSG633442 U7.69 pseudo HGNC:34165 INFERRED 2293169 RNU7-6P RNA, U7 small nuclear 6 pseudogene 20 20 20 q13.2 47226156 47226217 + 50521508 50521569 + 51904969 51905030 + 18267300 100147749 ABBA01052817;AL356354;AMYH02037269;NG_007587 U7.6 pseudo HGNC:34102 INFERRED 2293229 RNU7-70P RNA, U7 small nuclear 70 pseudogene 1 1 1 p13.2 111407869 111407921 - 113177351 113177403 - 112634729 112634781 - 18267300 100151667 ABBA01068414;AL929470;AMYH02001744;NG_007686 U7.70 pseudo HGNC:34166 INFERRED 2293227 RNU7-72P RNA, U7 small nuclear 72 pseudogene 20 20 20 q13.13 45149126 45149182 + 48444533 48444589 + 49827996 49828052 + 18267300 100151669 ABBA01052757;AL162615;AMYH02037218;NG_007688 U7.72 pseudo HGNC:34168 INFERRED 2293228 RNU7-71P RNA, U7 small nuclear 71 pseudogene 16 16 16 q22.2 57171661 57171718 - 72855834 72855891 - 72821935 72821992 - 18267300;9847074 100151668 ABBA01016805;AC004943;AMYH02032347;NG_007687;NG_013211 U7.71 pseudo HGNC:34167 INFERRED 2293226 RNU7-73P RNA, U7 small nuclear 73 pseudogene 3 3 3 p22.2 37548211 37548265 - 37614650 37614704 - 37573159 37573213 - 18267300 100151670 ABBA01024843;AMYH02006561;AP006240;NG_007689;NG_016166 U7.73 pseudo HGNC:34169 INFERRED 2293224 RNU7-75P RNA, U7 small nuclear 75 pseudogene 5 5 5 p13.2 37214170 37214230 + 37327237 37327297 + 37327135 37327195 + 18267300 100151672 ABBA01024181;AC025449;AMYH02011174;NG_007691;NG_034131 U7.75 pseudo HGNC:34171 INFERRED 2293225 RNU7-74P RNA, U7 small nuclear 74 pseudogene 4 4 4 p14 40821093 40821151 - 40379470 40379528 - 40377453 40377511 - 18267300;9847074 100151671 ABBA01014245;AC098869;AMYH02009071;NG_007690 U7.74 pseudo HGNC:34170 INFERRED 2293223 RNU7-76P RNA, U7 small nuclear 76 pseudogene 7 7 p12.3 46113876 46113932 - 46014981 46015037 - 18267300;9847074 100151673 AC073115;CH236958;NG_007692 U7.76 pseudo HGNC:34172 INFERRED 2293222 RNU7-77P RNA, U7 small nuclear 77 pseudogene 10 10 10 p11.21 35189707 35189763 + 35424372 35424428 + 35135444 35135500 + 18267300 100151674 ABBA01033345;AL157783;AMYH02022613;NG_007693;NG_029065 U7.77 pseudo HGNC:34173 INFERRED 2293250 RNU7-50P RNA, U7 small nuclear 50 pseudogene 11 11 11 p15.4 3807845 3807900 + 3802626 3802681 + 3781396 3781451 + 18267300 100147837 ABBA01032050;AC090587;AMYH02024232;NG_007644 U7.50 pseudo HGNC:34146 INFERRED 2293221 RNU7-78P RNA, U7 small nuclear 78 pseudogene 1 1 q25.1 147173739 147173994 - 174064280 174064535 - 18267300 100151675 AL121983;NG_007694 KIAA2025;U7.78 pseudo HGNC:34174 INFERRED 2293220 RNU7-79P RNA, U7 small nuclear 79 pseudogene 15 15 15 q25.3 62333029 62333082 - 85933061 85933114 - 85389830 85389883 - 18267300 100151676 ABBA01052962;AC104046;AMYH02030965;NG_007695 U7.79 pseudo HGNC:34175 INFERRED 2293218 RNU7-81P RNA, U7 small nuclear 81 pseudogene 2 2 2 p16.1 54917973 54918032 + 55077427 55077486 + 54850290 54850349 + 18267300 100151678 ABBA01075257;AC013414;AMYH02003843;NG_007697 U7.81 pseudo HGNC:34177 INFERRED 2293217 RNU7-82P RNA, U7 small nuclear 82 pseudogene 3 3 3 q26.1 161588387 161588446 - 163187994 163188053 - 163470206 163470265 - 18267300 100151679 ABBA01058771;AC079910;AMYH02008049;NG_007698 U7.82 pseudo HGNC:34178 INFERRED 2293219 RNU7-80P RNA, U7 small nuclear 80 pseudogene 1 1 1 p31.3 66528968 66529020 - 68238283 68238335 - 67772600 67772652 - 18267300 100151677 ABBA01074515;AL136120;AMYH02001208;NG_007696 U7.80 pseudo HGNC:34176 INFERRED 2293215 RNU7-84P RNA, U7 small nuclear 84 pseudogene 8 8 8 q23.1 103928991 103929052 - 107742024 107742085 - 106729796 106729857 - 18267300 100151681 ABBA01037690;AC090579;AMYH02018574;NG_007700 U7.84 pseudo HGNC:34180 INFERRED 2293216 RNU7-83P RNA, U7 small nuclear 83 pseudogene 7 7 q31.1 102724750 102724809 + 107911445 107911504 + 12853948;18267300 100151680 AC007567;CH236947;NG_007699 U7.83 pseudo HGNC:34179 INFERRED 2293214 RNU7-85P RNA, U7 small nuclear 85 pseudogene 8 8 8 q21.13 76716647 76716705 - 80712371 80712429 - 79800136 79800194 - 18267300 100151682 ABBA01004074;AC016240;AMYH02018287;NG_007701 U7.85 pseudo HGNC:34181 INFERRED 1353502 RNU7-86P RNA, U7 small nuclear 86 pseudogene X X q24 120103321 120103370 - 119638507 119638556 - 2249787 6073 AC002476;M35538;NG_001189 HSU7.7/32B;RNU7P2;U7 RNA, small nuclear U7 pseudogene 2;rna, u7 small nuclear pseudogene 2 pseudo HGNC:10237 INFERRED 6481484 RNU7-87P RNA, U7 small nuclear 87 pseudogene 13 13 67204847 67204908 - 66630715 66630776 - 100873842 ABBA01050281;AL136999;AMYH02028194;NG_032622 pseudo HGNC:42616 INFERRED 6481488 RNU7-88P RNA, U7 small nuclear 88 pseudogene 13 13 60054204 60054266 + 59480070 59480132 + 100873843 ABBA01036995;AL356241;NG_032623 pseudo HGNC:42617 INFERRED 6481490 RNU7-89P RNA, U7 small nuclear 89 pseudogene 13 13 73742226 73742287 - 73168089 73168150 - 100873844 ABBA01050345;AL158191;AMYH02028260;NG_032624 pseudo HGNC:42618 INFERRED 2293291 RNU7-8P RNA, U7 small nuclear 8 pseudogene 1 1 1 p31.1 76125868 76125926 + 77886011 77886069 + 77420326 77420384 + 18267300 100147756 ABBA01074401;AC093575;AMYH02001298;NG_007595 RNU7-139P;U7.8 pseudo HGNC:34104 INFERRED 2293290 RNU7-9P RNA, U7 small nuclear 9 pseudogene 2 2 q36.3 224246438 224246498 + 230470955 230471015 + 18267300 100147757 ABBA01050146;AC007559;NG_007596 U7.9 pseudo HGNC:34105 INFERRED 1344372 RNU86 RNA, U86 small nucleolar Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like U86, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like U86, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008] 22 22 22 q13 23514963 23515017 - 39712847 39712901 - 39316842 39316896 - 10684968 116936 ABBA01055560;AJ238852;AL022326;AMYH02038377;NR_000026 1747523 G65386 U82;U86 APPROVED snorna 611069 PROVISIONAL 7256628 RNVU1-10 RNA, variant U1 small nuclear 10 1 q21.2 148362370 148362533 - 23070852;6085956 101954273 ABBA01053732;AC245100;AL592207;BX284650;M25188;NR_104082 RNU1-10P;RNU1-53;RNU1P10;RNVU1-1;U1.4;U1P14;vU1.1;vU1.10 snrna ENSG00000207340 HGNC:48316 VALIDATED 2293292 RNU7-7P RNA, U7 small nuclear 7 pseudogene X X X p11.4 42605111 42605168 + 38467471 38467528 + 38608218 38608275 + 18267300 100147755 ABBA01047006;AF241726;AMYH02039174;NG_007594 U7.7 pseudo HGNC:34103 INFERRED 1345451 RNVU1-11 RNA, variant U1 small nuclear 11 1 q21.2 2012 2176 - 23070852;3837185 6063 AADB02368648;ABBA01000381;AC253578;JQ988805;M28010;NG_001184 RNU1-12P;RNU1P2;U1P2A;vU1.11 APPROVED pseudo HGNC:10134 INFERRED 1344291 RNVU1-1 RNA, variant U1 small nuclear 1 1 1 q21.1 121093307 121093470 - 143647014 143647177 - 23070852;6085956 26856 ABBA01053732;BX284650;M25188;NG_001259 RNU1-10P;RNU1P10;U1.4;U1P14;vU1.1 APPROVED pseudo HGNC:10133 INFERRED 7257311 RNVU1-14 RNA, variant U1 small nuclear 14 1 q21.2 145281116 145281279 + 23070852 101954266 AC245014;BX546486;NR_104075 RNU1-37;vU1.14 snrna ENSG00000207501 HGNC:48319 VALIDATED 7256764 RNVU1-12 RNA, variant U1 small nuclear 12 q21.2 23070852 101954274 AL592207;NR_104083 RNU1-151;vU1.12 snrna HGNC:48317 VALIDATED 1347698 RNVU1-18 RNA, variant U1 small nuclear 18 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin 1 1 1 q21.2 121258457 121258620 + 149224058 149224221 - 143729407 143729570 - 6480464 23070852;3837185;6085956;6179629 26863 ABBA01010822;AC239800;AL356957;JQ988812;M14387;M25190;M28011;NR_004400 HSD4;RNU1-25;RNU1-25P;RNU1-5;RNU1P1;RNU1P9;U1.15;U1P101;U1P15;vU1.18 APPROVED snrna ENSG00000206737 HGNC:37496 VALIDATED 7244040 RNVU1-13 RNA, variant U1 small nuclear 13 q21.2 23070852 101447997 JQ988807 RNU1-147;vU1.13 snrna HGNC:48318 7253737 RNVU1-19 RNA, variant U1 small nuclear 19 1 q21.2 120850819 120850985 - 23070852 101954277 AC253572;AL451058;JQ988807;NR_104086 RNU1-126;RNU1-147;RNVU1-13;vU1.13;vU1.19 snrna ENSG00000275538 HGNC:48324 VALIDATED 7254000 RNVU1-16 RNA, variant U1 small nuclear 16 q21.2 23070852 101954270 AL592492;NR_104079 RNU1-121;vU1.16 snrna HGNC:48321 VALIDATED 7244107 RNVU1-2 RNA, variant U1 small nuclear 2 q21.1 23070852 101447998 JQ988795 RNU1-71;vU1.2 snrna HGNC:48308 7257328 RNVU1-15 RNA, variant U1 small nuclear 15 1 q21.2 144412576 144412740 + 23070852 101954267 AC246785;AL592492;AL954711;NR_104076 RNU1-121;RNU1-66;RNVU1-16;vU1.15;vU1.16 snrna ENSG00000207205 HGNC:48320 VALIDATED 7249808 RNVU1-17 RNA, variant U1 small nuclear 17 1 q21.2 143699456 143699619 - 23070852 101954269 ABBA01010824;AC239800;AL356957;NR_104078 RNU1-127;vU1.17 snrna ENSG00000207349 HGNC:48322 VALIDATED 7256239 RNVU1-20 RNA, variant U1 small nuclear 20 q21.2 23070852 101954268 AL358813;NR_125392 RNU1-110;vU1.20 snrna HGNC:48325 VALIDATED 7248943 RNVU1-3 RNA, variant U1 small nuclear 3 1 q21.1 148402715 148402875 + 23070852 101954272 ABBA01053732;AC245100;AL592207;BX284650;NR_104081 RNU1-113;RNU1-151;RNVU1-12;vU1.12;vU1.3 snrna ENSG00000201183 HGNC:48311 VALIDATED 7254608 RNVU1-4 RNA, variant U1 small nuclear 4 1 q21.1 120942600 120942763 + 23070852 101954264 AC241377;AL358813;AL592284;BX248398;NR_104073 RNU1-102;RNU1-110;RNU1-50;RNVU1-20;RNVU1-5;vU1.20;vU1.4;vU1.5 snrna ENSG00000277610 HGNC:48312 VALIDATED 7249811 RNVU1-6 RNA, variant U1 small nuclear 6 1 q21.1 146052081 146052244 - 23070852 101954276 ABBA01005751;AC239799;AL592307;NR_104085 RNU1-99;vU1.6 snrna ENSG00000201558 HGNC:48314 VALIDATED 1350487 RNVU1-7 RNA, variant U1 small nuclear 7 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin 1 1 1 q21.1 120936651 120936814 - 145969270 145969433 - 148038753 148038916 - 6480464 23070852;6179629 26864 ABBA01017294;AC239803;AL356004;BX537254;JQ988801;JQ988803;NR_004426 HSD2;HSD5;RNU1-26P;RNU1-6;RNU1-6P;RNU1-9;RNU1-9P;RNU1D2;RNVU1-9;U1B2;U1D2;vU1.7;vU1.9 APPROVED snrna ENSG00000206585 HGNC:37500 VALIDATED 7244038 RNVU1-8 RNA, variant U1 small nuclear 8 q21.1 23070852 101447996 AC241584;JQ988802;NR_121645 RNU1-145;vU1.8 snrna HGNC:48315 VALIDATED 2793761 RNVU1-9 RNA, variant U1 small nuclear 9 1 q21.2 147511004 147511167 - 23070852 100312957 BX537254;JQ988803;NR_030723 RNU1-26P;RNU1-6;RNU1-6P;vU1.9 APPROVED snrna ENSG00000206585 HGNC:37499 VALIDATED 1352429 RNY1 RNA, Ro-associated Y1 Y RNAs are small noncoding RNAs that were originally identified as the RNA component of soluble ribonucleoproteins (RNPs) termed Ro RNPs. Ro RNPs are detected by autoimmune sera of patients suffering from rheumatic diseases, such as from systemic lupus erythematosus (MIM 152700) and Sjogren syndrome (MIM 270200). Ro RNPs consist of a Y RNA that is associated with the autoimmune antigen proteins Ro60 (TROVE2; MIM 600063) and La (SSB; MIM 109090), as well as other proteins. Four human Y RNAs have been identified: Y1, Y3 (RNY3; MIM 601822), Y4 (RNY4; MIM 601823), and Y5 (RNY5; MIM 601824). (Y2 is a truncated form of Y1.) Y RNAs are transcribed by RNA polymerase III and range in size from 83 to 112 nucleotides. They appear to have a functional role in chromosomal DNA replication (Christov et al., 2006 [PubMed 16943439]).[supplied by OMIM, Apr 2009] 7 7 7 q36 143355070 143355182 - 148684228 148684340 - 148987136 148987248 - 6480464 16943439;6187471;8836182 6084 ABBA01033605;AC093743;AMYH02017033;NR_004391;V00584 HY1;Y1 rna, y1 small cytoplasmic (associated with ro protein) APPROVED ncrna ENSG00000201098 HGNC:10242 601821 PROVISIONAL 5688416 RNY1P2 RNA, Ro-associated Y1 pseudogene 2 13 13 q33.1 102669303 102669419 - 102016953 102017069 - 100862666 ABBA01027078;AL512629;AMYH02028623;NG_008317;NG_032097 pseudo HGNC:42479 VALIDATED 6481566 RNY1P1 RNA, Ro-associated Y1 pseudogene 1 100873802 AL137059;NG_032587 pseudo HGNC:42478 INFERRED 6481567 RNY1P4 RNA, Ro-associated Y1 pseudogene 4 100873804 AL138820;NG_032589 pseudo HGNC:42481 INFERRED 6481565 RNY1P3 RNA, Ro-associated Y1 pseudogene 3 13 13 26524842 26524959 - 25950704 25950821 - 100873803 ABBA01007911;AL138815;AMYH02027728;NG_032588 pseudo HGNC:42480 INFERRED 5688418 RNY1P5 RNA, Ro-associated Y1 pseudogene 5 13 13 q22.1 74863237 74863351 - 74289100 74289214 - 100862667 ABBA01050358;AL353660;AMYH02028269;NG_032098 pseudo HGNC:42482 INFERRED 6481568 RNY1P6 RNA, Ro-associated Y1 pseudogene 6 13 13 52160560 52160668 - 51586424 51586532 - 100873805 ABBA01051050;AL139183;AMYH02028034;NG_032590 pseudo HGNC:42483 INFERRED 6481569 RNY1P7 RNA, Ro-associated Y1 pseudogene 7 100873806 AL157364;NG_032591 pseudo HGNC:42484 INFERRED 6481571 RNY1P8 RNA, Ro-associated Y1 pseudogene 8 13 13 73801284 73801397 + 73227147 73227260 + 100873807 ABBA01050346;AL162376;AMYH02028263;NG_032592 pseudo HGNC:42485 INFERRED 7249836 RNVU1-5 RNA, variant U1 small nuclear 5 q21.1 23070852 101954265 AL592284;NR_104074 RNU1-50;vU1.5 snrna HGNC:48313 VALIDATED 6481067 RNY1P9 RNA, Ro-associated Y1 pseudogene 9 q11.21 100874358 AC007731;NG_033992 KLHL22-IT1;RNYP1 APPROVED pseudo HGNC:41481 INFERRED 6481461 RNY3P10 RNA, Ro-associated Y3 pseudogene 10 13 13 70377072 70377173 + 69802940 69803041 + 100873820 ABBA01050309;AL356384;AMYH02028215;NG_032600 pseudo HGNC:42494 INFERRED 1347190 RNY3 RNA, Ro-associated Y3 INTERACTS WITH (-)-anisomycin; actinomycin D; zinc sulfate 7 7 7 q36 143351693 143351794 + 148680847 148680948 + 148983755 148983856 + 6480464 17470436;6187471;8836182 6085 ABBA01033605;AC093743;AMYH02017033;NR_004392;V00585 2177387 HY3 HY3;Y3 rna, y3 small cytoplasmic (associated with ro protein) ncrna ENSG00000202354 HGNC:10243 601822 PROVISIONAL 6481573 RNY3P5 RNA, Ro-associated Y3 pseudogene 5 100873809 AL627344;NG_032594 pseudo HGNC:42489 INFERRED 6481575 RNY3P4 RNA, Ro-associated Y3 pseudogene 4 100873808 AL356287;NG_032593 pseudo HGNC:42488 INFERRED 6481572 RNY3P6 RNA, Ro-associated Y3 pseudogene 6 13 13 100188573 100188650 - 99536319 99536396 - 100873810 ABBA01027118;AL139035;AMYH02028592;NG_032595 pseudo HGNC:42490 INFERRED 5688414 RNY3P2 RNA, Ro-associated Y3 pseudogene 2 13 13 q14.2 49669528 49669625 + 49095392 49095489 + 100862668 ABBA01051015;AL137000;NG_032099 KIAA0970 pseudo HGNC:42486 INFERRED 5688419 RNY3P3 RNA, Ro-associated Y3 pseudogene 3 q22.3 100862669 AL391989;NG_032100 pseudo HGNC:42487 INFERRED 5688422 RNY3P9 RNA, Ro-associated Y3 pseudogene 9 q14.11 100862672 AL445143;NG_032102 pseudo HGNC:42493 INFERRED 5688423 RNY3P7 RNA, Ro-associated Y3 pseudogene 7 13 13 q22.3 78197507 78197607 + 77623372 77623472 + 100862670 ABBA01021664;AL137140;AMYH02028320;NG_032101 pseudo HGNC:42491 INFERRED 1342917 RNY4P1 RNA, Ro-associated Y4 pseudogene 1 9 9 9 q21.13 48036439 48036532 + 77462422 77462515 + 74847506 74847599 + 1378808 6087 ABBA01033886;AL354795;AMYH02021006;M77131;NG_005036;NG_017036 hY4.B8 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 1 pseudo HGNC:10245 INFERRED 2946881 RNY4P11 RNA, Ro-associated Y4 pseudogene 11 20 20 p11.23 18383723 18383816 + 18309653 18309746 + 100379288 AL049646;NG_016612 pseudo HGNC:34061 INFERRED 2881096 RNY4P10 RNA, Ro-associated Y4 pseudogene 10 6 6 6 p21.3 34721744 34721835 + 33167378 33167469 + 33199601 33199692 + 100379592 ABBA01038138;AL645940;AL662824;AL844527;AMYH02013481;CR354565;CR759733;CR936877;NG_016642 pseudo HGNC:34060 INFERRED 2946878 RNY4P15 RNA, Ro-associated Y4 pseudogene 15 2 2 88256950 88257042 + 88529091 88529183 - 100379291 AC092836;NG_016613 pseudo HGNC:34065 INFERRED 2881095 RNY4P14 RNA, Ro-associated Y4 pseudogene 14 13 13 13 q13.3 21412271 21412362 - 40359556 40359647 - 39785419 39785510 - 100379584 ABBA01021305;AL596306;AMYH02027902;NG_016641;NG_028352 KIAA1134 pseudo HGNC:34064 INFERRED 3102666 RNY4P16 RNA, Ro-associated Y4 pseudogene 16 1 1 1 q42.11 208243988 208244055 + 234973720 234973817 + 234837973 234838070 + 100431173 ABBA01033108;AL360294;AMYH02002930;NG_021236 pseudo HGNC:34066 INFERRED 2881127 RNY4P17 RNA, Ro-associated Y4 pseudogene 17 4 4 4 q32.3 167257736 167257830 + 169926400 169926494 + 169005249 169005343 + 9847074 100379564 ABBA01070335;AC021151;AMYH02010478;NG_016640 pseudo HGNC:34067 INFERRED 2293805 RNY4P19 RNA, Ro-associated Y4 pseudogene 19 2 2 2 q36.3 224698872 224698965 - 230922947 230923040 - 230058231 230058324 - 100169834 ABBA01050131;AC093171;AMYH02005950;NG_007997 pseudo HGNC:34069 INFERRED 2946875 RNY4P18 RNA, Ro-associated Y4 pseudogene 18 9 9 9 q31.3 84358836 84358922 - 113859607 113859693 - 111097327 111097413 - 100379298 ABBA01042738;AC007157;AMYH02021471;NG_016630 pseudo HGNC:34068 INFERRED 1347955 RNY4P2 RNA, Ro-associated Y4 pseudogene 2 17 17 17 q21.31 37741008 37741100 - 41084867 41084959 - 42932850 42932942 - 1378808 6088 ABBA01006402;AC055866;AMYH02033442;M77130;NG_005037 hY4.B7 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 2 pseudo HGNC:10246 INFERRED 5688415 RNY4P21 RNA, Ro-associated Y4 pseudogene 21 14 14 q24.3 74558116 74558188 - 74091413 74091485 - 9847074 100862663 ABBA01030732;AC005484;AMYH02029509;NG_032094 pseudo HGNC:42471 INFERRED 2922708 RNY4P20 RNA, Ro-associated Y4 pseudogene 20 6 6 6 q25.1 152353872 152353963 - 151619977 151620068 - 151298842 151298933 - 100379378 ABBA01025646;AL033392;AMYH02014723;NG_016636;NG_029875 pseudo HGNC:34070 INFERRED 6481563 RNY4P22 RNA, Ro-associated Y4 pseudogene 22 3 3 20234274 20234366 - 20192782 20192874 - 100873800 ABBA01025086;AC098972;AMYH02006370;NG_032585 pseudo HGNC:42472 INFERRED 6481564 RNY4P23 RNA, Ro-associated Y4 pseudogene 23 100873801 AL139398;NG_032586 pseudo HGNC:42473 INFERRED 5688413 RNY4P24 RNA, Ro-associated Y4 pseudogene 24 13 13 q14.3 52974139 52974231 + 52400004 52400096 + 100862664 ABBA01006539;AL359513;NG_032095 FLJ10749 pseudo HGNC:42474 INFERRED 2922830 RNY4P12 RNA, Ro-associated Y4 pseudogene 12 11 11 q23.3 116022720 116022812 + 118865270 118865362 + 100379329 AP003392;NG_016633 pseudo HGNC:34062 INFERRED 1350493 RNY4 RNA, Ro-associated Y4 INTERACTS WITH (-)-anisomycin; actinomycin D; zinc sulfate 7 7 7 q36 143331254 143331349 + 148660407 148660502 + 148963315 148963410 + 6480464 17470436;7520568;8836182 6086 ABBA01033602;AC073140;AMYH02017032;L32608;NR_004393 2119515 HY4 HY4;Y4 rna, y4 small cytoplasmic (associated with ro protein) ncrna ENSG00000252316 HGNC:10244 601823 PROVISIONAL 5688417 RNY4P25 RNA, Ro-associated Y4 pseudogene 25 1 1 q21.3 151411478 151411569 + 151439002 151439093 + 100862665 ABBA01049394;AL589764;AMYH02001881;NG_032096 pseudo HGNC:42475 INFERRED 6481462 RNY4P26 RNA, Ro-associated Y4 pseudogene 26 10 10 95806795 95806882 - 94047038 94047125 - 100873819 ABBA01021862;AL365510;AMYH02023566;NG_032599 pseudo HGNC:42476 INFERRED 6481464 RNY4P27 RNA, Ro-associated Y4 pseudogene 27 100873821 AL356257;NG_032601 pseudo HGNC:42495 INFERRED 6481469 RNY4P29 RNA, Ro-associated Y4 pseudogene 29 100873823 AL162716;NG_032603 pseudo HGNC:42497 INFERRED 6481468 RNY4P28 RNA, Ro-associated Y4 pseudogene 28 13 60761872 60761964 - 100873822 AL356502;NG_032602 pseudo HGNC:42496 INFERRED 5688420 RNY4P30 RNA, Ro-associated Y4 pseudogene 30 q14.2 100862673 AL136123;NG_032103 pseudo HGNC:42498 INFERRED 1351444 RNY4P3 RNA, Ro-associated Y4 pseudogene 3 16 16 16 q12.1 34645550 34645642 + 50132175 50132267 + 50098264 50098356 + 1378808 6089 ABBA01000881;AC007610;AMYH02032007;M77132;NG_005038 hY4.F2 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 3 pseudo HGNC:10247 INFERRED 5688421 RNY4P31 RNA, Ro-associated Y4 pseudogene 31 q21.2 100862674 AL627344;NG_032104 pseudo HGNC:42499 INFERRED 2946876 RNY4P4 RNA, Ro-associated Y4 pseudogene 4 3 3 3 q22.3 134732556 134732658 + 136307051 136307153 + 136588209 136588311 + 100379297 ABBA01059118;AC128712;AMYH02007745;NG_016629 pseudo HGNC:34050 INFERRED 2946879 RNY4P13 RNA, Ro-associated Y4 pseudogene 13 17 17 17 q11.2 25246441 25246534 - 28386072 28386165 - 30059054 30059147 - 100379296 ABBA01015005;AC104996;AMYH02033266;NG_016628 pseudo HGNC:34063 INFERRED 2946874 RNY4P5 RNA, Ro-associated Y4 pseudogene 5 8 8 8 q24.13 120246138 120246232 + 124056957 124057051 + 123044717 123044811 + 100379299 ABBA01037863;AC100873;AMYH02018700;NG_016631 pseudo HGNC:34052 INFERRED 2946877 RNY4P8 RNA, Ro-associated Y4 pseudogene 8 17 17 17 q21.2 35059617 35059711 + 38399475 38399569 + 40243223 40243317 + 100379295 ABBA01031836;AC068669;AMYH02033396;NG_032695 pseudo HGNC:34057 INFERRED 2859134 RNY5P1 RNA, Ro-associated Y5 pseudogene 1 1 1 1 p34.3 34167802 34167884 - 35893411 35893493 - 35427810 35427892 - 100379666 ABBA01023341;AL356362;AMYH02000766;NG_016725 1848480 HY5 pseudo HGNC:34082 INFERRED 2293802 RNY5P10 RNA, Ro-associated Y5 pseudogene 10 19 19 19 q13.12 33254225 33254300 + 36540048 36540121 + 36049146 36049219 + 100169837 ABBA01018777;AD000813;AMYH02035999;NG_008006 pseudo HGNC:34091 INFERRED 3322038 RNY5P2 RNA, Ro-associated Y5 pseudogene 2 2 2 q33.1 192163971 192164030 + 198408100 198408159 + 100381208 AC020550;NG_016767 pseudo HGNC:34083 INFERRED 2946880 RNY4P6 RNA, Ro-associated Y4 pseudogene 6 11 11 11 q23.3 114044388 114044482 + 116886613 116886707 + 117015897 117015991 + 100379287 ABBA01039745;AMYH02025624;AP000936;NG_016611 1846428;2002796;2002798;2002800;2002802;2002804;2002806;2002808;2002810 ECD24434;REN72310;REN72311;REN72312;REN72313;REN72314;REN72315;REN72316;REN72317 pseudo HGNC:34055 INFERRED 2859129 RNY5P3 RNA, Ro-associated Y5 pseudogene 3 3 3 3 q26.2 168959704 168959778 - 170559887 170559961 - 170842098 170842172 - 100379664 ABBA01058671;AC117476;AMYH02008127;NG_016720 pseudo HGNC:34084 INFERRED 3516304 RNY5P4 RNA, Ro-associated Y5 pseudogene 4 4 4 4 q28.2 128162448 128162528 - 130781575 130781655 - 129860420 129860500 - 9847074 100380271 ABBA01044837;AC079857;AMYH02010107;NG_016727 pseudo HGNC:34085 INFERRED 2859127 RNY5P6 RNA, Ro-associated Y5 pseudogene 6 8 8 8 p11.21 41956645 41956720 + 43008119 43008194 + 43152976 43153051 + 100379663 ABBA01021187;AC113191;AMYH02017915;NG_016719 1676450 RH69425 pseudo HGNC:34087 INFERRED 2859128 RNY5P5 RNA, Ro-associated Y5 pseudogene 5 6 6 6 p22.2 26419942 26420015 + 25192641 25192714 + 25192413 25192486 + 100379658 ABBA01066543;AL590084;AMYH02013336;NG_016705 pseudo HGNC:34086 INFERRED 1345142 RNY5 RNA, Ro-associated Y5 INTERACTS WITH (-)-anisomycin; actinomycin D; zinc sulfate 7 7 7 q36 143309435 143309518 + 148638580 148638663 + 148941488 148941571 + 6480464 18056422;7520568;8836182 6090 ABBA01033601;AC073140;AMYH02017031;NR_001571;U64824 1848480 HY5 Y5 rna, y5 small cytoplasmic (associated with ro protein) ncrna HGNC:10248 601824 PROVISIONAL 2922957 RNY4P9 RNA, Ro-associated Y4 pseudogene 9 13 13 q14.3 31537501 31537594 - 50482773 50482866 - 100379300 AL136123;NG_016632 pseudo HGNC:34058 INFERRED 3398732 RNY5P8 RNA, Ro-associated Y5 pseudogene 8 13 13 13 q33.1 84316828 84316895 + 103472349 103472416 + 102819999 102820066 + 100380878 ABBA01027069;AL157769;AMYH02028627;NG_016734 pseudo HGNC:34089 INFERRED 2293804 RNY5P7 RNA, Ro-associated Y5 pseudogene 7 10 10 10 q24.31 96663639 96663713 + 102925966 102926040 + 101166209 101166283 + 100169835 ABBA01063205;AL135794;AMYH02023668;NG_007998 pseudo HGNC:34088 INFERRED 2293803 RNY5P9 RNA, Ro-associated Y5 pseudogene 9 16 16 16 q21 43263227 43263307 - 58762500 58762580 - 58728596 58728676 - 100169836 ABBA01025315;AC012183;AMYH02032134;NG_007999 pseudo HGNC:34090 INFERRED 2293815 RNY4P7 RNA, Ro-associated Y4 pseudogene 7 2 2 2 q14.3 121867413 121867505 - 128556480 128556572 - 127798906 127798998 - 100169850 ABBA01040196;AC006011;AMYH02004741;NG_008007 pseudo HGNC:34056 INFERRED 2837591 ROCK1P1 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 18 18 18 p11.32 166 5551 + 109065 122219 + 109065 122219 + 12477932;16344560;20398283;24024966 727758 ABBA01004204;ABBA01004205;AMYH02034183;AMYH02034184;AP001005;BC041849;DB095042;NR_033770 AAH41849 Hs.585843 1682978 RH65142 pseudo ENSG00000263006 HGNC:37832 VALIDATED 1345935 ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila) ENCODES a protein that exhibits receptor activity (inferred); INVOLVED IN angiogenesis; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; cobalt dichloride; copper(2+) sulfate 11 11 11 q24.2 121914289 121928006 - 124754114 124767857 - 124884218 124897952 - 1580863;6480464;8554872 11076864;11944987;12477932;12941633;12975309;14527427;14702039;14761960;15489334;15849270;15894287;16335952;16685377;17495228;17496152;17671968;18270976;18519813;18948384;18980679;19495426;19855388;20375003;21423011;21465248;22241990;23023422;23702092;24090675;24272999;24855053 54538 B4DYV8;Q8WZ75 ABBA01031250;AF361473;AK000805;AK025195;AK027852;AK074163;AK289769;AK297845;AK302628;AMYH02025727;AP003501;AY358083;BC014995;BC025675;BC039602;BC064643;BC111562;BC111748;CH471065;DC424813;NM_001301088;NM_019055;XM_005271596;XM_005271597;XM_006718861 AAH39602;AAH64643;AAI11563;AAI11749;AAL31867;AAQ88450;BAA91382;BAB15082;BAB55411;BAB84989;BAF82458;BAG60179;BAG63870;EAW67610;EAW67611;EAW67612;EAW67613;NP_001288017;NP_061928;Q8WZ75;XP_005271653;XP_005271654;XP_006718924 Hs.524121 1658961;2109767;2121172;7183985 D11S4610;ROBO4_9796;WI-20325 ECSM4;FLJ20798;MGC133352;MGC133353;MRB OTTHUMP00000231537;OTTHUMP00000231538;roundabout homolog 4;roundabout homolog 4, magic roundabout APPROVED protein-coding ENSG00000154133 HGNC:17985 09604 607528 VALIDATED 1322248 ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009] 11 11 11 q24.2 121895484 121911549 + 124735305 124751370 + 124865409 124881474 + 2316136;6480464;7240710;8554872;8699517 16262652 12177379;12477932;14702039;15105459;15174051;15824346;16226035;16525029;17671968;18270976;18829051;19041479;19953087;20298552;21187438;21510772;21592015;21850172;21890473;24012004;8125298 64221 F5GWJ5;F5H0K7;Q96MS0 ABBA01031250;AK024697;AK225076;AK291045;AK295475;AK298792;AMYH02025727;AP003501;AY509035;BC008623;BC086878;BC113744;CH471065;N80769;NG_016214;NM_022370 AAH08623;AAI48594;AAS91662;BAB14966;BAF83734;BAG58402;BAG60929;EAW67602;EAW67603;EAW67604;EAW67605;EAW67606;EAW67607;EAW67608;EAW67609;NP_071765;Q96MS0 Hs.435621 2136699 A004W01 FLJ21044;HGPPS;HGPS;RBIG1;RIG1 OTTHUMP00000231536;OTTHUMP00000236847;retinoblastoma inhibiting gene 1;roundabout homolog 3;roundabout-like protein 3 APPROVED protein-coding ENSG00000154134 HGNC:13433 10554 607313;608630 REVIEWED 1345670 RONU Rowett nude 5492 HGNC:10255 731503 ROCK2 Rho-associated, coiled-coil containing protein kinase 2 The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008] 2 2 2 p24 11237615 11400586 - 11319894 11484711 - 11179768 11344585 - 1580863;1642807;6480464;6907045;8554872 17316608 10209029;10601309;11350930;11931630;12102637;12126956;12176052;12185584;12220642;12477932;12482610;12563012;12600888;12778124;15044207;15121898;15302935;15699075;15797222;16531242;16574662;16585408;16964243;16996686;17012370;17015463;17081983;17137291;17167780;17344417;17353931;17446864;17572668;17596509;18331468;18495812;18496125;18559669;18668558;18695890;18922892;18971541;19099536;19131646;19181962;19205033;19322201;19422706;19435756;19590140;19913121;19997641;20056178;20164172;20181930;20232393;20346360;20429915;20504226;20628086;20939434;20951699;20961215;21084279;21139048;21147781;21303778;21423810;21906983;21963094;22001410;22093931;22155728;22232555;22241857;22262769;22273145;22348083;22462535;22505724;22705122;22798677;22842919;22863883;22939913;22942252;22986902;23211630;23326532;23328676;23479079;23615712;23644663;23789633;24036111;24065547;24135024;24168723;24604753;24608447;24674677;24816145;8617235;9463375;9734811;9933571 9475 C9JFJ0;D6REE7;E9PF63;O75116 AB014519;ABBA01015643;ABBA01015644;ABBA01015645;AC018463;AC099344;AK299296;AK310358;AL049383;AMYH02003283;AMYH02003284;AMYH02003285;AMYH02003286;AMYH02003287;BC111801;BG539531;CD652480;CH471053;D87931;NG_029769;NM_004850;XM_005246190 AAI11802;AAX93049;AAY14825;BAA31594;BAA75636;BAG61311;EAX00937;EAX00938;NP_004841;O75116;XP_005246247 Hs.681743 1298126;1666958;1685227;1785972;1796716;2117146;2149195;5109362 D17S1239;D2S168;D2S1805;RH75524;ROCK2_815;SHGC-152111;SHGC-33406;WI-11377 KIAA0619;ROCK-II OTTHUMP00000195104;OTTHUMP00000200599;p164 ROCK-2;rho kinase 2;rho-associated coiled-coil forming kinase 2;rho-associated protein kinase 2;rho-associated, coiled-coil-containing protein kinase 2;rho-associated, coiled-coil-containing protein kinase II APPROVED protein-coding ENSG00000134318 HGNC:10252 04922 604002 REVIEWED 1349152 ROMO1 reactive oxygen species modulator 1 INVOLVED IN cellular response to reactive oxygen species; positive regulation of cell proliferation; positive regulation of reactive oxygen species metabolic process; FOUND IN mitochondrion; INTERACTS WITH copper(2+) sulfate; hydralazine; potassium dichromate 20 20 20 q11.22 31035527 31037197 + 34287232 34288902 + 35699310 35700980 + 6480464 11780052;12477932;15342556;15489334;16842742;17537404;18313394;18836179;19513905;19535734;19904609;20203691;20736409;20877624;21399876;21558421;22083756;23867822;24269823;24473193;24473195 140823 P60602 ABBA01019151;AK000548;AL357374;AM397244;AM397245;AM397246;AMYH02037006;BC008488;BC105281;BM353595;CH471077;GU727625;NG_033237;NM_080748 AAH08488;AAI05282;ADU87627;ADZ15662;CAL37002;CAL37003;CAL37004;EAW76168;EAW76169;NP_542786;P60602 Hs.472564 1777710;1799896;1808930;1821176;1822504;1975738;1975740;1975742;1975744;1975746;1975748;1975750;1975752;1975754;1975756;1975758;1975760;1975762;1975764;1975766;1975768;1975770;2121620;2215616;2215618;2215620 ECD00802;ECD05448;ECD11665;ECD12340;REN58757;REN58758;REN58759;REN58760;REN58761;REN58762;REN58763;REN58764;REN58765;REN58766;REN58767;REN58768;REN58769;REN58770;REN58771;REN58772;REN58773;RH41786;STS-D45601;stSG636803;stSG636804;stSG636805 C20orf52;MGC111180;MTGM;MTGMP;bA353C18.2 OTTHUMP00000030797;OTTHUMP00000062052;OTTHUMP00000062053;OTTHUMP00000196684;ROS modulator 1;epididymis tissue protein Li 175;glyrichin;mitochondrial targeting GXXXG protein;mitochondrial targeting GxxxG motif protein;protein MGR2 homolog protein-coding ENSG00000125995 HGNC:16185 12774 VALIDATED 735617 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 3 3 3 p12 79390331 80561510 - 78646388 79817059 - 78597238 79767909 - 2314868;2316136;6480464;8554872 15264215;16262652 10102268;10433822;10892742;11672528;11748139;12082532;12471613;12477932;12504588;12892710;14702039;15207848;15342556;15489334;16169070;16254601;16636676;16641997;16685377;16740745;17062560;17081983;17671114;17671369;17848514;17968499;18270976;18387595;18464913;18566128;18829537;18948384;19023125;19104841;19351956;19684588;19706539;20029409;20068157;20071679;20298689;20300657;20379614;20438712;20471383;20816195;20936779;20949370;21041608;21060114;21139048;21283129;21385904;21465248;21686327;21857494;21875486;21890473;21998696;22262894;22719878;22826604;22898079;22939629;23000965;23119100;23294842;23733161;23953227;23954868;24124411;24247621;24673457;9458045;9608531;9796701 6091 F8WEV8;H7C4Y7;H7C545;Q1RMC8;Q9Y6N7 ABBA01031021;ABBA01031022;ABBA01031023;ABBA01031024;ABBA01031025;ABBA01031026;ABBA01031027;ABBA01031028;ABBA01031029;ABBA01031030;ABBA01031031;ABBA01031032;ABBA01031033;ABBA01031034;AC016946;AC055731;AC106718;AC106720;AC108719;AC117461;AC117479;AC119035;AC123565;AC125624;AC125766;AC125815;AC131008;AF040990;AK025535;AK095256;AK297481;AK299920;AMYH02007118;AMYH02007119;AMYH02007120;AMYH02007121;AMYH02007122;AMYH02007123;AMYH02007124;AMYH02007125;AMYH02007126;AMYH02007127;AMYH02007128;BC001969;BC029676;BC112336;BC115020;BC115022;BC157861;BC171855;BP228659;BX538319;CH471110;DR003097;NG_011729;NM_001145845;NM_002941;NM_133631;XM_006713276;XM_006713277;XM_006713278;Z95705 AAC39575;AAH01969;AAI12337;AAI15021;AAI15023;AAI57862;AAI71855;BAG59902;BAH13173;CAD98093;EAW68884;EAW68885;EAW68886;EAW68887;EAW68888;NP_001139317;NP_002932;NP_598334;Q9Y6N7;XP_006713339;XP_006713340;XP_006713341 Hs.744218 1298196;1336274;1336837;1340379;1651468;1654523;1664730;1664798;1708094;1711024;1713053;1714383;1714703;1715131;1720559;1727589;1729483;1731685;1733852;1733854;1733856;1733860;1733862;1733864;1733868;1733872;1733874;1733876;1733878;1733880;1733882;1733944;1735196;1739745;1748917;1748951;1749053;1749683;1749691;1750191;1762137;1764901;1776486;1779912;1780246;1784610;1784886;1851624;2112720;2113212;2119217;2121098;2129567;2140907;2151131;2154089;2165540;2171466;2173529;2180569;5015961;5493883;5494116;7187072;7187075 D11S3972;D15S1477;D3S1274;D3S1604;D3S1669;D3S2498;D3S2499;D3S2500;D3S2503;D3S2504;D3S2505;D3S2507;D3S2509;D3S2510;D3S2511;D3S2512;D3S2513;D3S2514;D3S2552;D3S2840E;D3S2975;D3S3;D3S3049;D3S3073;D3S3474E;D3S3681;D3S3962;D3S4451;D3S4492;G19159;G35125;G59233;G63203;RH119517;RH120016;RH120182;RH120311;RH16327;RH44887;RH45408;RH47423;SHGC-10600;SHGC-110573;SHGC-110600;SHGC-110680;SHGC-111359;SHGC-111365;SHGC-112052;SHGC-112294;SHGC-146035;SHGC-148459;SHGC-154157;SHGC-154706;SHGC-35070;SHGC-35216;SHGC-70139;SHGC-77115;SHGC-77117;SHGC-77118;SHGC-81445;SHGC-84894;UniSTS:498508;fi28b09.x1 DUTT1;FLJ21882;MGC131599;MGC133277;SAX3 OTTHUMP00000213706;OTTHUMP00000213707;OTTHUMP00000213708;deleted in U twenty twenty;roundabout homolog 1;roundabout homolog 1 (drosophila) APPROVED protein-coding ENSG00000169855 HGNC:10249 03890 602430 REVIEWED 736256 ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 3 3 3 p12.3 76699396 78441286 + 75955845 77699115 + 75906694 77649964 + 61733;1580863;2316136;6480464;7240710;8554872;8699517 16262652;9458045 10102268;10197527;10997877;11748139;11754167;12477932;12504588;15130495;15207848;15489334;16169070;16713569;16829019;17357069;18235093;18270976;18464913;18566128;19023125;19056867;19240061;19350278;19959718;20029409;20201926;20345837;20379614;20467438;21150319;21900206;22675492;22719878;23319000;23382691;23525682;23536131;23568457;23982283;24024966;24247621 6092 F8W703;F8WBR3;H7C4J7;H7C4U9;H7C4V8;H7C4W9;Q9HCK4;R4GMM8 AB046788;ABBA01030995;ABBA01030996;ABBA01030997;ABBA01030998;ABBA01030999;ABBA01031000;ABBA01031001;ABBA01031002;ABBA01031003;ABBA01031004;ABBA01031005;ABBA01031006;ABBA01031007;ABBA01031008;ABBA01031009;ABBA01031010;ABBA01031011;ABBA01031012;AC016942;AC016952;AC024256;AC026877;AC067717;AC117514;AC117515;AC117516;AC126467;AC130004;AC131005;AC131154;AC133040;AC138974;AC245438;AF040991;AK074780;AK301176;AMYH02007088;AMYH02007089;AMYH02007090;AMYH02007091;AMYH02007092;AMYH02007093;AMYH02007094;AMYH02007095;AMYH02007096;AMYH02007097;AMYH02007098;AMYH02007099;AMYH02007100;AMYH02007101;AMYH02007102;AMYH02007103;AMYH02007104;AMYH02007105;BC064374;BC144302;BC144303;BC144306;BC146772;BX648828;CH471110;DQ533873;DQ533874;KC876890;NG_027734;NM_001128929;NM_001290039;NM_001290040;NM_001290065;NM_002942;XM_005264768;XM_005264769;XM_006713279 AAC39576;AAH64374;AAI46773;ABF83430;ABF83431;BAB13394;BAC11205;BAG62763;EAW68889;NP_001122401;NP_001276968;NP_001276969;NP_001276994;NP_002933;Q9HCK4;XP_005264825;XP_005264826;XP_006713342 Hs.13305 1335917;1649481;1655369;1655531;1664169;1674049;1690155;1701494;1703676;1706470;1707054;1709778;1709822;1711142;1712879;1714997;1716647;1717797;1719029;1720121;1720463;1721007;1721085;1723825;1723917;1727025;1727709;1727711;1730511;1731914;1733884;1733886;1733910;1733912;1733914;1733916;1733918;1733920;1733922;1739301;1750173;1750531;1751325;1757191;1761407;1761917;1764807;1765259;1765533;1766969;1773679;1777630;1784614;1784752;1797176;1852313;1853694;1856539;2112724;2119750;2121390;2122385;2123510;2132384;2134927;2139308;2144174;2157222;2158616;2160085;2169207;2187603;5092948 A009C42;ATC-P7546;D3S1747;D3S2484;D3S2515;D3S2517;D3S2533;D3S2534;D3S2536;D3S2537;D3S2538;D3S2539;D3S2540;D3S3289E;D3S3365;D3S3392;D3S3653;D3S4157;D3S4454;D3S4533;D3S769;G16647;G19155;G32429;G59185;G59485;G59525;G62910;G63118;G63119;HSC2MC092;RH104380;RH118648;RH118691;RH120835;RH121074;RH121580;RH121809;RH123221;RH123802;RH70334;RH71142;RH80480;ROBO2;SHGC-105189;SHGC-111835;SHGC-112056;SHGC-112264;SHGC-144609;SHGC-145417;SHGC-145851;SHGC-148375;SHGC-148764;SHGC-149006;SHGC-152513;SHGC-154474;SHGC-34465;SHGC-77102;SHGC-77113;SHGC-77120;SHGC-78827;SHGC-81121;SHGC-81280;SHGC-84705;SHGC-84730;SHGC-85303;STS-N33966;STS-Z41295;WI-11153;WI-11200;WI-14397;Z94483;Z94676 KIAA1568;SAX3 OTTHUMP00000213687;OTTHUMP00000213701;OTTHUMP00000213702;roundabout (axon guidance receptor, drosophila) homolog 2;roundabout homolog 2 APPROVED protein-coding ENSG00000185008 HGNC:10250 602431;610878 REVIEWED 1344223 ROPN1 rhophilin associated tail protein 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH etoposide; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 q21.1 122095418 122117739 - 123687862 123711017 - 123969015 123992170 - 1580863;6480464;8554872 10591629;11278869;12477932;17551920;18421703;20107840;20705794;21240291;21654522;22021175 54763 C9J012;C9J6H4;C9JP07;Q9HAT0 ABBA01016447;AC117381;AF303889;AL133624;AMYH02007558;BC132744;BC132746;CH471052;HC007266;NM_017578;XM_005247549;XM_005247551 AAG27712;AAI32745;AAI32747;ADR82868;CAB63750;CBH19438;EAW79425;EAW79426;EAW79427;NP_060048;Q9HAT0;XP_005247606;XP_005247608 Hs.567516;Hs.733553 1341702;1701014 D3S3558;RH104134 CT91;DKFZp434B1222;ODF6;RHPNAP1;ROPN1A OTTHUMP00000215807;cancer/testis antigen 91;outer dense fiber of sperm tails 6;rhophilin-associated protein 1A;ropporin;ropporin, rhophilin associated protein 1;ropporin-1A APPROVED protein-coding ENSG00000065371 HGNC:17692 15269 611757 PROVISIONAL 1603007 ROGDI rogdi homolog (Drosophila) This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 16 16 16 p13.3 5055739 5061444 - 4846963 4852951 - 4796962 4802950 - 6480464;8699517;7240710;8554872 11076863;11230166;11256614;12477932;14702039;15489336;16169070;16381901;17043677;22424600;22482807;23086778;24630287 79641 K7EID1;K7EJ96;K7EL91;K7EMJ5;K7EPN1;K7EPS3;K7ERN3;K7ERP1;Q9GZN7 AA740842;ABBA01026787;AC020663;AK026039;AK054707;AK098348;AL136675;AMYH02031328;BC012901;CH471112;CR457355;CR533547;NG_032174;NM_024589;NR_046480;XM_006720947;XM_006720948 AAH12901;BAB15331;BAG51413;CAB66610;CAG33636;CAG38578;CAL38033;EAW85258;EAW85259;EAW85260;EAW85261;NP_078865;Q9GZN7;XP_006721010;XP_006721011 Hs.459795 1648676;1680673;1682403;2137535 RH44934;RH70097;SHGC-60805;SHGC-61126 FLJ22386;KTZS OTTHUMP00000159854;leucine zipper domain protein;protein rogdi homolog APPROVED protein-coding ENSG00000067836 HGNC:29478 13388 226750;614574 REVIEWED 5131405 ROPN1L-AS1 ROPN1L antisense RNA 1 5 5 5 p15.2 10479221 10480035 - 10440847 10441963 - 10440735 10441851 - 11329013 100505845 AA393211;ABBA01020601;AC092336;AMYH02010850;BG197480;HY043091;HY045761;HY238903;NR_102746 Hs.599395 APPROVED ncrna HGNC:39984 VALIDATED 1314474 ROM1 retinal outer segment membrane protein 1 This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008] 11 11 11 q13 59709778 59712156 + 62380213 62382592 + 62612741 62615120 + 1580863;6480464;7240710;8553197;8699517;8554872 10802659 10681511;11559856;11641407;12477932;1302019;1415249;15489334;1610568;16554811;17207965;17286855;20301590;20335603;20801516;25036637;7904211;8202715;8504299;8595413;8889548;8938448;9331261 6094 E9PKF5;E9PMR7;E9PS24;Q03395 ABBA01003230;AK313674;AMYH02024893;AP001458;BC008100;BC036268;BU731899;CH471076;DC335199;DQ426890;L07894;M96759;NG_009845;NM_000327 AAA60272;AAA60274;AAH08100;ADQ32765;BAG36425;EAW74041;NP_000318;Q03395 Hs.281564 1773244;2109769;2128657;2157835 ROM1;ROM1_8597;STS-L07894;WI-9219 ROM;ROSP1;RP7;TSPAN23 OTTHUMP00000236110;rod outer segment membrane protein 1;tetraspanin-23;tspan-23 APPROVED protein-coding ENSG00000149489 HGNC:10254 01616 180721;608133 REVIEWED 1319640 ROPN1L rhophilin associated tail protein 1-like This gene encodes a member of the ropporin family. The encoded protein is a sperm protein. It interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Type II regulatory subunit of cAMP-dependent protein kinase (PKARII) also binds to this helix domain of AKAP3, which allows PKARII to be targeted to specific subcellular compartments. It is suggested that sperm contains several proteins that bind to AKAPs in a manner similar to PKARII, and this encoded protein may be one of them. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2011] 5 5 5 p15.2 10480140 10503231 + 10441974 10465138 + 10441858 10482319 + 737633;6480464 12477932 11278869;15489335;18421703;21424380;21832049;22446040;24250222 83853 Q96C74;Q9H5V2 ABBA01020601;AC092336;AF239723;AK026656;AK098642;AMYH02010850;BC014607;BX113042;CH471102;CV024170;DB479784;HG497765;NM_001201466;NM_031916;XM_006714503;XM_006714504 AAG59587;AAH14607;ADZ15816;BAB15517;EAX08063;EAX08064;NP_001188395;NP_114122;Q96C74;XP_006714566;XP_006714567 Hs.381089 1648889;1670421;1709946;2149394 D5S1654E;SGC31357;SHGC-82239;WIAF-1507 ASP;FLJ23003;FLJ25776;RP11-1C1.7;RSPH11 AKAP-associated sperm protein;OTTHUMP00000115590;OTTHUMP00000221153;ROPN1-like protein;radial spoke head 11 homolog;ropporin 1-like;ropporin-1-like protein APPROVED protein-coding ENSG00000145491 HGNC:24060 17986 611756 REVIEWED 8656751 ROR1-AS1 ROR1 antisense RNA 1 1 1 64560125 64579581 - 64094442 64113898 - 14702039 101927034 ABBA01074565;AK096291;AL138793;AL445205;AMYH02001160;BC040909;HG492134;HG492135;NR_110665;NR_110666;XR_246333;XR_246334;XR_246335;XR_248799;XR_248800;XR_248801;XR_250750;XR_250751;XR_250752 Hs.680824 ncrna ENSG00000223949 HGNC:40508 VALIDATED 9068869 RORB-AS1 RORB antisense RNA 1 q21.13 103752585 AL355674;BM553298;KF458922;NR_125791 Hs.635501 ncrna HGNC:49803 VALIDATED 1603561 ROPN1B rhophilin associated tail protein 1B ENCODES a protein that exhibits protein heterodimerization activity; INVOLVED IN Rho protein signal transduction (inferred); sperm motility (inferred); FOUND IN cytoplasm; motile cilium; INTERACTS WITH 4-nonylphenol; trichostatin A; 17alpha-ethynylestradiol (ortholog) 3 3 3 q21.2 124116016 124125916 + 125687987 125702297 + 125969144 125983455 + 6480464 10591629;11278869;12477932 152015 D6RA85;D6RAA3;D6RCR2;Q9BZX4 ABBA01016400;AC092903;AF231410;AK302014;AMYH02007580;BC015413;BC141849;CH471052;HC007268;HC044759;NM_001012337;XM_005247137;XM_005247138;XM_006713513;XM_006713514 AAG59586;AAH15413;AAI40023;AAI41850;BAH13607;CBH19439;CBH30709;EAW79382;EAW79383;NP_001012337;Q9BZX4;XP_005247194;XP_005247195;XP_006713576;XP_006713577 Hs.663128 1701014 RH104134 AKAP-binding sperm protein ropporin;OTTHUMP00000222445;OTTHUMP00000222455;rhophilin-associated protein 1B;ropporin, rhophilin associated protein 1B;ropporin-1B APPROVED protein-coding ENSG00000114547 HGNC:31927 17985 PROVISIONAL 1315588 RORB RAR-related orphan receptor B The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 2014] 9 9 9 q22 47686322 47876161 + 77112252 77303534 + 74497336 74687201 + 1580863;6480464;8554872 10860982;11121580;11504880;11689423;11849752;12477932;12958591;15164053;15604093;19839995;19909500;20201926;20379614;22589738;23333304;23396134;23975195;24125721;7926749;7935491;8816759;8858107;885817;8889548;8905729;9670004 6096 Q58EY0;Q92753 AB307695;ABBA01033881;ABBA01033882;ABBA01033883;ABBA01033884;AK313431;AL118995;AL137018;AL355674;AL691650;AMYH02021002;BC051830;BC093772;BC093774;BM669680;BM698896;BX647070;CH471089;HQ709186;NM_006914;Y08639 AAH51830;AAH93772;AAH93774;ABZ92181;ADZ17393;BAG36222;BAH02286;CAA69929;EAW62552;NP_008845;Q92753 Hs.494178 1647144;1665546;1675205;1719329;1721449;1739277;1754347;2140262;2147522;2157912;2173031;2179085;2182220 A008J35;D2S1936E;D9S2009;G59576;HSC2BA062;RH123390;RH48589;SHGC-132372;SHGC-24180;SHGC-31325;SHGC-31359;WI-14716;WI-3909 NR1F2;ROR-BETA;RZR-BETA;RZRB;bA133M9.1 OTTHUMP00000021486;RAR-related orphan receptor beta;nuclear receptor ROR-beta;nuclear receptor RZR-beta;nuclear receptor subfamily 1 group F member 2;retinoic acid-binding receptor beta;retinoid-related orphan receptor beta;retinoid-related orphan receptor-beta APPROVED protein-coding ENSG00000198963 HGNC:10259 09062 601972 REVIEWED 1346819 RP spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit 6099 HGNC:10262 733751 ROCK1 Rho-associated, coiled-coil containing protein kinase 1 This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. [provided by RefSeq, Jul 2008] 18 18 18 q11.1 15335539 15497459 - 18529701 18691812 - 20949740 21111851 - 1580863;2298875;1642807;6480464;6484113;6907045;8554872 11872041;17316608 10209029;10436159;10508479;10559936;10574968;10579722;10601309;10652353;10818093;10970850;11018042;11283607;11340065;11387207;11739394;11751986;11818523;11893932;11931630;11992112;12034773;12082081;12177195;12193698;12220642;12477932;12482610;12563012;12600888;12729902;12748184;12749591;12773565;12778124;12850840;14517206;14610060;14657354;14660612;14702039;14716844;14718574;14962675;15044207;15096506;15208091;15231748;15247219;15252450;15494373;15611088;15647781;15665056;15713824;15723050;15793569;15797222;15843433;15855233;15910744;15956119;16123592;16141422;16249185;16344560;16371346;16407310;16413470;16543245;16687572;16712513;16760434;16772336;16784244;16825579;16862148;16891369;16978606;16983089;17012370;17028776;17044646;17138966;17167780;17172270;17174923;17244674;17344417;17346310;17572668;17620599;17643375;17651694;17673200;17728102;17853893;17855350;18079197;18187541;18204440;18239683;18331468;18353901;18396681;18477564;18495812;18499753;18615591;18648664;18668558;18684864;18694941;18695890;18713748;18723680;18780293;18852895;18922892;18941185;18946488;18948190;18952846;19001122;19036714;19131646;19160018;19167712;19181962;19403695;19404162;19406912;19420982;19549780;19573309;19590140;19667069;19913121;19997641;20039424;20053635;20056178;20056645;20064505;20068229;20070312;20126978;20130732;20140017;20223287;20364104;20379197;20558775;20682776;20734064;20801872;20801873;21035804;21048031;21051874;21085597;21119662;21139048;2114109;21206971;21265091;21305317;21387396;21417762;21423810;21445309;2155236;21575520;21739156;21747168;21840487;21847509;21906983;21907926;21908715;21986457;21994419;22010828;22031287;22041269;22085929;22155728;22197032;22206673;22232555;22262769;22328514;22348083;22363817;22462535;22493320;22558309;22563075;22584506;22798677;22813839;22846914;22863883;22913419;22921817;22942252;22975682;22986902;23022380;23066013;23094262;23097497;23168335;23184937;23188716;23233531;23328676;23350987;23355470;23479079;23602568;23615712;23649168;23665024;23670799;23720748;23726972;23775364;23782575;23789633;23828571;23872151;23877263;23936026;23951055;23975506;24019071;24149105;24168723;24180482;24240172;24250222;24296361;24297045;24324133;24331979;24696479;24717605;24736615;24816145;7822264;8617235;8798490;8816443;9099667;9354661;9456324;9516463;9565595;9722579;9856983 6093 J3KRH6;Q13464 AB208965;ABBA01022697;ABBA01022698;ABBA01022699;ABBA01022700;ABBA01022701;ABBA01022702;AC022795;AC036178;AK057038;AK307388;AMYH02034363;AMYH02034364;AMYH02034365;AMYH02034366;AMYH02034367;AMYH02034368;AU121527;BC113114;CH471088;DQ786321;NM_005406;U43195 AAB02814;AAI13115;BAD92202;EAX01119;NP_005397;Q13464 Hs.306307 1665299;1679499;1682978;1718417;2111049;2135118;5017637 D18S374E;RH122410;RH65142;RH65143;RH78137;RH78771;ROCK1 MGC131603;MGC43611;P160ROCK;PRO0435;ROCK-I OTTHUMP00000162514;Rho kinase;p160 ROCK-1;p160-ROCK;renal carcinoma antigen NY-REN-35;rho-associated kinase beta;rho-associated protein kinase 1;rho-associated, coiled-coil-containing protein kinase 1;rho-associated, coiled-coil-containing protein kinase I APPROVED protein-coding HGNC:10251 03414 601702 REVIEWED 1354228 RP10 retinitis pigmentosa 10 (autosomal dominant) ASSOCIATED WITH Leber Congenital Amaurosis 11 (inferred); Retinitis Pigmentosa 10 (inferred) 7240710 8513324 6105 HGNC:10264 180105;613837 1352623 RP17 retinitis pigmentosa 17 (autosomal dominant) ASSOCIATED WITH Retinitis Pigmentosa 17 (inferred) 7240710 7581389 6111 HGNC:10271 600852 1313207 ROR2 receptor tyrosine kinase-like orphan receptor 2 The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008] 9 9 9 q22 64921783 65148752 - 94484878 94712444 - 91722596 91950162 - 1580863;6480464;6484113;7240710;8554872;8699517 10700182;10932186;10932187;10986040;11062486;12011143;12477932;12754255;12815588;12839624;12919145;1334494;14752058;15164053;15388793;15654020;17095577;17101003;17619808;17665217;17668388;17717073;17996904;18215320;18365018;18615587;18703641;18762249;18831060;19135982;19448672;19453261;19461659;19486338;19533773;19561643;19640924;19724895;19802008;19851296;20098747;20185829;20198315;20301418;20591152;20634891;21069266;21139048;21342370;21377971;21693067;21890473;22057548;22128168;22178368;22293903;22294416;22490406;22493546;22688191;22781592;22939624;22988987;22992069;23233346;23238279;23278988;23469623;23893409;23963164;24104062;24158497;24954533;9973296 4920 B1APY4;Q01974 AA463746;AA626834;AB209154;ABBA01018577;ABBA01018578;ABBA01018579;AF254747;AF254748;AF254749;AF254750;AF254751;AF254752;AF254753;AF279755;AF279756;AF279757;AF279758;AF279759;AF279760;AF279761;AL391219;AL583841;AL928802;AMYH02021212;AMYH02021213;AMYH02021214;AMYH02021215;AMYH02021216;BC033697;BC051273;BC126454;BC130522;BI089313;BQ446244;CH471089;M97639;NG_008089;NM_004560;XM_005252008;XM_005252009;XM_006717121 AAA60276;AAI30523;BAD92391;EAW62798;EAW62799;EAW62800;EAW62801;EAW62802;NP_004551;Q01974;XP_005252065;XP_005252066;XP_006717184 Hs.644776;Hs.98255 1660390;1668250;1688728;1728757;1728787;1728823;1765229;1766609;1791548;1791550;2219644 D9S2051;G54475;G54476;G54539;PMC114715P2;PMC114715P3;RH66768;RH92164;ROR2__5517;SHGC-148721;SHGC-149914 BDB;BDB1;MGC163394;NTRKR2 OTTHUMP00000021634;neurotrophic tyrosine kinase receptor-related 2;neurotrophic tyrosine kinase, receptor-related 2;tyrosine-protein kinase transmembrane receptor ROR2 APPROVED protein-coding ENSG00000169071 HGNC:10257 03822 113000;268310;602337 REVIEWED 1352147 ROR1 receptor tyrosine kinase-like orphan receptor 1 This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belongs to the ROR subfamily of cell surface receptors. It is a pseudokinase that lacks catalytic activity and may interact with the non-canonical Wnt signalling pathway. This gene is highly expressed during early embryonic development but expressed at very low levels in adult tissues. Increased expression of this gene is associated with B-cell chronic lymphocytic leukaemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2012] 1 1 1 p32-p31 62529560 62934556 + 64239690 64647181 + 63774019 64181498 + 1580863;6480464;8554872 11713269;12477932;1334494;15654020;16710414;18223214;18287027;18354269;18546292;18604725;19488044;19913121;20379614;20597086;20628086;20634891;20686606;20702778;21079657;21139048;21481194;21487037;21531460;21698301;21813176;21832049;22199287;22369092;22403610;22988987;23000965;23041612;23153538;23285131;23593420;23620405;23771907;24104062;24379361;25015289;8875995;9143508 4919 A2VCQ3;Q01973 ABBA01074564;ABBA01074565;ABBA01074566;AK000776;AK308088;AK309189;AL137859;AL138793;AL161742;AL353713;AL359769;AL445205;AMYH02001159;AMYH02001160;BC006374;BC080541;BC128386;CH471059;KF495966;M97675;NG_032801;NM_001083592;NM_005012 AAA60275;AAH80541;AAI28387;AAI56512;AAI72555;EAX06555;EAX06556;EAX06557;NP_001077061;NP_005003;Q01973 Hs.128753 1338611;1338807;1341142;1644546;1674508;1692536;1695264;1709632;1713639;1727997;1729598;1745769;1751369;1751889;1754693;1854680;2107555;2128000;2129287;2157080;2173331;2179866;7187924 AL009342;AL033920;D19S51;D1S2617;D1S2684;D1S3254;D1S3467;D1S515;G16064;G34865;G63269;GDB:636104;RH120700;RH47810;ROR1__6895;SHGC-105230;SHGC-105854;SHGC-133047;SHGC-33176;SHGC-62979;SHGC-74930;SHGC-85179 MGC99659;NTRKR1;dJ537F10.1 OTTHUMP00000010573;OTTHUMP00000010574;neurotrophic tyrosine kinase receptor-related 1;neurotrophic tyrosine kinase, receptor-related 1;tyrosine-protein kinase transmembrane receptor ROR1 APPROVED protein-coding ENSG00000185483 HGNC:10256 03821 602336 REVIEWED 736329 ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq, Jul 2008] 6 6 6 q22 118352446 118489916 - 117609530 117747018 - 117287932 117425855 - 1580863;6480464;8554872 10958799;11094073;11266449;12477932;12538861;12661006;14574404;15235104;15456853;1611909;16175505;16761743;16885344;17275003;17416557;17676665;17967605;17975119;18083107;18097620;18160848;18506375;18566305;18676680;19023099;19056482;19170196;19204000;19328187;19578796;19625176;19692168;19709766;19863298;20098747;20379614;21253578;22215748;22327623;22585869;22617245;22659450;22661537;22915320;23143601;23292247;23400546;23401445;23415111;23426121;23459443;23514723;2352949;23549810;23719267;23788756;23810364;23887156;24128715;24345493;24462463;2691958;2827175;3023956;3115921;3785223;8675006 6098 H0Y3T9;P08922;Q5H8Y1 ABBA01026040;ABBA01026041;ABBA01026042;AL132671;AMYH02014360;BC144556;CH471051;KF458262;M13599;M13880;M34353;NG_033929;NM_002944;XM_006715548;Z98880 AAA36580;AAA60277;AAA60278;AAI66687;EAW48208;EAW48209;NP_002935;P08922;XP_006715611 Hs.1041 1671131;1700868;1715707;2178250;2183202;2219646 D6S1072;D6S1873;RH104060;RH119300;RH69070;ROS1__5518 MCF3;ROS;c-ros-1 OTTHUMP00000017814;OTTHUMP00000017815;c-Ros receptor tyrosine kinase;c-ros oncogene 1 , receptor tyrosine kinase;proto-oncogene c-Ros;proto-oncogene c-Ros-1;proto-oncogene tyrosine-protein kinase ROS;receptor tyrosine kinase c-ros oncogene 1;transmembrane tyrosine-specific protein kinase;v-ros UR2 sarcoma virus oncogene homolog 1;v-ros avian UR2 sarcoma virus oncogene homolog 1 APPROVED protein-coding ENSG00000047936 HGNC:10261 01295 165020 REVIEWED 1319776 RP1L1 retinitis pigmentosa 1-like 1 This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010] 8 8 8 p23.1 9591303 9640515 - 10463859 10512617 - 10606349 10655107 - 1580863;7240710;8554872;8699517 12634863;12724644;14702039;16869982;17655910;18716609;19657028;20236041;20826268;22466457;22504327;23229695;23251661;23281133;23619761;23745001;24838559 94137 A6NKC6;Q8IWN7 ABBA01026889;AC104964;AC105001;AJ491324;AMYH02017428;AMYH02017429;AY168341;AY168342;AY168343;AY168344;AY168345;AY168346;NG_028035;NM_178857 AAN86959;AAN86960;AAN86961;AAN86962;AAN86963;AAN86964;CAD36957;NP_849188;Q8IWN7 Hs.33538 1693318;1693932 G42365;G42658 DCDC4B OTTHUMP00000224979;retinitis pigmentosa 1-like 1 protein APPROVED protein-coding ENSG00000183638 HGNC:15946 10546 608581;613587 REVIEWED 1346565 RP21 retinitis pigmentosa 21 9135384 8020 HGNC:13434 1345059 RP2 retinitis pigmentosa 2 (X-linked recessive) The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008] X X X p11.3 50888193 50933646 + 46696347 46741793 + 46836912 46882358 + 1580863;1599605;6480464;7240710;8554872;8699517 10937588 10053026;10090907;10520237;10634633;10862093;10942419;11462235;11798852;11847227;11992260;12417528;12477932;12657579;14564670;14566651;15489334;15772651;16344560;16457815;16472755;16936086;16969763;17081983;17093403;17207965;17724181;18376416;19056867;19516003;19852809;20021257;20106869;20301590;20625056;20801516;21139048;21285245;21890473;21906983;21963094;21987572;22072390;22183373;23000965;23150612;23372056;24479636;24816145;25078280;2876947;6325945;8938433;9697692 6102 O75695 ABBA01052262;ABBA01052263;ABBA01052264;ABBA01052265;ABBA01052266;ABBA01052267;ABBA01052268;ABBA01052269;ABBA01052270;ABBA01052271;ABBA01052272;ABBA01052273;AJ007590;AK312555;AL049366;AL050307;AL627143;AMYH02039263;AMYH02039264;BC027851;BC043348;BC053530;CH471164;DA211161;NG_009107;NM_006915 AAH43348;AAH53530;ADQ33082;BAG35452;CAA07577;EAW59275;NP_008846;O75695 Hs.44766 2124254;5015861;5015961;7185938 D10S16;D15S1477;DXS7 DELXp11.3;KIAA0215;NM23-H10;NME10;TBCCD2;XRP2 OTTHUMP00000023189 APPROVED protein-coding ENSG00000102218 HGNC:10274 02424 300757;312600 REVIEWED 1350078 RP22 retinitis pigmentosa 22 (autosomal recessive) ASSOCIATED WITH Retinitis Pigmentosa (inferred) 7240710 9545639 6114 1298329;1731693;7184480 D16S403;D16S524 HGNC:10276 602594 1350835 RP23 retinitis pigmentosa 23 (X-linked recessive) ASSOCIATED WITH Joubert Syndrome 10 (inferred); Orofaciodigital syndrome type1 (inferred); Retinitis Pigmentosa (inferred) 7240710 6115 1335254;2144844 DXS1223;DXS7161 HGNC:10277 300209;300424;300804;311200 1354304 RP24 retinitis pigmentosa 24 (X-linked recessive) ASSOCIATED WITH Retinitis Pigmentosa (inferred) 7240710 9792872 6116 1339260 DXS8106 HGNC:10278 300155 1345668 RP25 retinitis pigmentosa 25 (autosomal recessive) ASSOCIATED WITH Retinitis Pigmentosa 25 (inferred) 7240710 10417302;9585594 8414 HGNC:10279 602772 1350951 RP28 retinitis pigmentosa 28 (autosomal recessive) ASSOCIATED WITH Retinitis Pigmentosa (inferred) 7240710 10507729 23680 HGNC:10281 606068 1346635 RP6 retinitis pigmentosa 6 (X-linked recessive) ASSOCIATED WITH Retinitis Pigmentosa 6 (inferred) 7240710 6104 1701928;7183977 DXS28 HGNC:10286 312612 1343032 RP29 retinitis pigmentosa 29 (autosomal recessive) ASSOCIATED WITH Retinitis Pigmentosa 29 (inferred) 7240710 54110 HGNC:10282 612165 1318061 RP1 retinitis pigmentosa 1 (autosomal dominant) This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010] 8 8 8 q12.1 51519220 51533987 + 55528627 55682524 + 54616067 54630834 + 1580863;6480464;7240710;8547535;8554872;8699517 23701314 10188731;10391211;10391212;10401003;11767049;11773008;11790298;12048676;12764676;12882812;14702039;15183808;15863674;15980210;16185528;16568030;16869982;17286855;1783394;18347624;18552984;18997786;19657028;19933189;20236041;20301590;20664799;20801516;21746989;22052604;22317909;22917891;22927954;23049240;23077400;23844040;23940504 6101 P56715 ABBA01041745;AC090137;AC090151;AC091076;AF128525;AF141021;AF143222;AF143226;AF146592;AF152242;AK098176;AK302348;AK304443;AK316511;AMYH02018004;AY672590;CH471068;DQ980612;DQ980613;DQ980614;DQ980615;KC877240;NG_009840;NM_006269 AAD42072;AAD44197;AAD44198;AAD46769;AAD46774;AAI56508;AAI72506;AAT75005;ABJ97137;ABJ97138;ABJ97139;ABJ97140;BAG53587;BAG63675;BAG65264;BAH14882;EAW86749;NP_006260;P56715 Hs.732820 1657974;1719213;2219648 RH123325;RP1__5519;STS-AA018812 DCDC4A;FLJ50293;FLJ55454;FLJ79410;ORP1 OTTHUMP00000226582;oxygen-regulated protein 1;retinitis pigmentosa 1 protein;retinitis pigmentosa RP1 protein APPROVED protein-coding ENSG00000104237 HGNC:10263 04896 145750;180100;603937 REVIEWED 1342620 RP9 retinitis pigmentosa 9 (autosomal dominant) The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009] 7 7 7 p14.3 33116207 33130800 - 33134409 33149002 - 33094797 33109390 - 1580863;6480464;7240710;8554872;8699517 10931201;12032732;12477932;12690205;15474994;15489334;15541726;15556297;15652350;16671097;19471022;20301590;20801516;21832049;8079997;8513323 6100 C9J6V2;Q8TA86 AACC02000103;ABBA01056861;AC074338;AMYH02015492;AX016710;BC025928;CH471073;NG_012968;NM_203288 AAH25928;ABZ92536;EAL24465;EAW94012;EAW94013;EAW94014;NP_976033;Q8TA86 Hs.326805 1644163;1647508;1652412;1854727;2109771 D7S460;RH44672;RH65893;RP9_8598;SGC33228 PAP-1;PAP1 OTTHUMP00000202859;OTTHUMP00000202860;Pim-1 kinase associated protein;pim-1-associated protein;retinitis pigmentosa 9 protein APPROVED protein-coding ENSG00000164610 HGNC:10288 08457 180104;607331 REVIEWED 2289743 RP9P retinitis pigmentosa 9 pseudogene INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate; quercetin 7 7 7 p14.3 32938110 32964463 - 32956427 32982782 - 32916815 32943170 - 6480464 12477932 441212 Q9BZU6 ABBA01056856;AC018648;AC083863;AF274938;AK091223;AMYH02015489;AMYH02015490;AMYH02015491;BC036907;BC050570;CH471073;NR_003500 AAK07516;EAW94003 Hs.648086 1854727;5015961;5022322 D11S2560;D15S1477;RH44672 FLJ33904 pseudo ENSG00000205763 HGNC:33969 PROVISIONAL 7240882 RPA2P2 replication protein A2 pseudogene 2 10 10 10 q23.1 76889768 76890548 - 82896299 82897079 - 81136543 81137323 - 389990 ABBA01003787;AL356154;AMYH02023427;NG_022150 2149354 G30996 pseudo HGNC:45117 INFERRED 1352599 RPA2P1 replication protein A2 pseudogene 1 14 14 14 q21.3 27326105 27327531 + 47465582 47467008 + 46996379 46997805 + 326628 ABBA01018084;AL359951;AMYH02029119;NG_002610 RPA2P APPROVED pseudo HGNC:19676 INFERRED 7241105 RPA2P3 replication protein A2 pseudogene 3 11 11 11 97376947 97377700 + 100207601 100208354 + 100336869 100337622 + 100420359 ABBA01039969;AMYH02025447;AP001892;NG_024553 pseudo HGNC:45118 INFERRED 1350001 RPA4 replication protein A4, 30kDa This gene encodes a single-stranded DNA-binding protein that is the 30-kDa subunit of the replication protein A complex. Replication protein A is an essential factor for DNA double-strand break repair and cell cycle checkpoint activation. The encoded protein localizes to DNA repair foci and may be involved in the cellular DNA damage response. This protein may also play a role in inhibiting viral replication.[provided by RefSeq, Apr 2010] X X X q21.33 96657000 96658559 + 96138907 96140466 + 96883908 96885467 + 1580863;2306716;6907045;7246926;6480464 18157157;19154342 11092888;12477932;15489334;15772651;15929725;17207965;18676680;19116208;19170196;19468048;19692168;19942684;19996105;21832049;7565690;7760808;9084803 29935 Q13156 ABBA01064554;AF494047;AMYH02040013;BC069791;BC069808;BC069824;BC104013;BC104014;CH471115;NG_008433;NG_013259;NM_013347;U24186;Z86061 AAB08488;AAH69791;AAH69808;AAH69824;AAI04014;AAI04015;AAM09569;ACE87774;ACT64440;ADQ32894;EAX02794;NP_037479;Q13156 Hs.659349 2130927;2219150;5493187 HSU24186__6606;RH70584;UniSTS:484639 HSU24186;MGC120333;MGC120334 OTTHUMP00000023647;RF-A protein 4;RP-A p30;replication factor A protein 4;replication protein A 30 kDa subunit;replication protein A complex 34 kd subunit homolog Rpa4;replication protein A4, 34kDa APPROVED protein-coding ENSG00000204086 HGNC:30305 06591 300767 REVIEWED 1604268 RPAIN RPA interacting protein ENCODES a protein that exhibits protein complex binding; INVOLVED IN DNA recombination; DNA repair; DNA-dependent DNA replication; FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH (-)-demecolcine; cyclosporin A; ethyl methanesulfonate 17 17 17 p13.2 5339333 5352712 + 5322961 5336340 + 5419641 5433020 + 6480464 12477932;14702039;15489334;16008515;16135809;16344560;17207965;18029348;19336370;20237496;21360055;21890473;21988832;23010595;8125298 84268 B3KTT3;E9PDG9;F5H3Q7;Q86UA6 AA745783;ABBA01054814;AC004148;AK055052;AK096001;AK098491;AK226044;AK295394;AK300409;AMYH02032859;AW268632;AY680654;AY680655;AY680656;AY680657;AY680658;AY680659;AY680660;AY775314;AY775315;AY775316;AY775317;AY775318;AY775319;AY775320;AY775321;AY775323;BC004451;BC013831;BC046349;BC051849;BC062623;BG059980;BI091755;CH471108;CK005117;CS300549;DA349558;N41653;NM_001033002;NM_001160243;NM_001160244;NM_001160246;NM_001160266;NR_027679;NR_027682;NR_027683;NR_027684;NR_027685 AAH04451;AAH46349;AAH51849;AAT80872;AAT80873;AAT80874;AAT80875;AAT80876;AAT80877;AAT80878;AAX14368;AAX14369;AAX14370;AAX14371;AAX14372;AAX14373;AAX14374;AAX14375;AAX14377;ADQ33045;BAC05317;BAG53195;BAG58348;BAG62139;CAK32213;EAW90338;EAW90339;NP_001028174;NP_001153715;NP_001153716;NP_001153718;NP_001153738;Q86UA6 Hs.462086;Hs.555866 1648153;1680709;1853151;2184685;2217086;5015861;5021369;5022576;5024039;5024516;5037552;7185938 C1QBP_3122;D10S16;D13S1568;D16S325;D17S2014;D1S1361;D8S2279;L17796;RH93604;STS-T86983;WI-18770 FLJ25625;FLJ30490;FLJ42429;HRIP;MGC4189;RIP RAP interaction protein;RPA-interacting protein;nuclear transporter protein-coding ENSG00000129197 HGNC:28641 14615 VALIDATED 1342806 RPAP1 RNA polymerase II associated protein 1 This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012] 15 15 15 q15.1 18577327 18604438 - 41809374 41836464 - 41517176 41544277 - 6480464;8554872 10718198;12477932;14702039;15282305;15302935;15345747;16344560;17374514;17643375;20379614;21044950;21139048;21906983;21963094;22939629 26015 A8K2F9;H3BPM3;H3BPY8;H3BRE8;H3BTJ6;Q9BWH6 AB037824;ABBA01038403;ABBA01038404;AC016134;AK022794;AK290224;AK308884;AL117479;AL157487;AMYH02030271;BC000246;CH471125;DA618150;NM_015540;XM_005254297;XM_006720469;XM_006720470 AAH00246;ACE86907;ACE87594;BAA92641;BAB14247;BAF82913;CAB55952;CAB75675;EAW92502;EAW92503;EAW92504;EAW92505;NP_056355;Q9BWH6;XP_005254354;XP_006720532;XP_006720533 Hs.371045 2119295;2146602;2217920 D15S668;RPAP1_3568;T03501 DKFZp727M111;FLJ12732;KIAA1403;MGC858 OTTHUMP00000160862;RNA polymerase II-associated protein 1 APPROVED protein-coding ENSG00000103932 HGNC:24567 11522 611475 REVIEWED 1602679 RPAP2 RNA polymerase II associated protein 2 ENCODES a protein that exhibits CTD phosphatase activity; INVOLVED IN dephosphorylation of RNA polymerase II C-terminal domain; snRNA transcription; FOUND IN cytoplasm; DNA-directed RNA polymerase II, holoenzyme; nucleolus; INTERACTS WITH 2-methylcholine; atrazine; methyl methanesulfonate 1 1 1 p22.1 91010952 91106077 + 92764522 92853732 + 92298965 92388175 + 6480464 12477932;14702039;15489334;16055720;16710414;17643375;19615732;22137580;22990118;24816145;8125298 79871 Q8IXW5 ABBA01045546;ABBA01045547;ABBA01045548;AI612918;AK023212;AK225054;AL451010;AMYH02001480;BC031070;BC039014;CH471097;NM_024813;XM_005271223;XM_006710905;XR_246295 AAH31070;AAH39014;ADZ15573;BAB14465;EAW73095;EAW73096;NP_079089;Q8IXW5;XP_005271280;XP_006710968 Hs.444421 1643889;1672715;1693224;1699008;1720287;1720311;2164513;2177793 AL009350;AL033567;D1S2246;RH103075;RH123892;RH123904;RH69967;SHGC-31200 C1orf82;FLJ13150 OTTHUMP00000011943;RNA polymerase II-associated protein 2;putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 protein-coding HGNC:25791 07814 611476 VALIDATED 7252228 RPAP2P1 RNA polymerase II associated protein 2 pseudogene 1 10 10 10 q23 82617530 82619243 - 88614452 88616165 - 86854695 86856408 - 100272220 ABBA01033684;AC021036;AMYH02023485;NG_011757 pseudo HGNC:45125 INFERRED 1603005 RPAP3 RNA polymerase II associated protein 3 This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 12 12 12 q13.11 46853186 46897316 - 48055715 48099844 - 47661932 47706061 - 6480464 12477932;14676191;15761153;16055720;16344560;17643375;18538670;19180575;19450687;19471022;19875381;19953087;20098747;20371770;20801936;20864038;21044950;21139048;21145461;21184742;21360678;21415862;21832049;22939629;22990118;23159623;23940030;24550385;24816145;25036637 79657 Q9H6T3 ABBA01031467;AC004241;AK025561;AK299465;AMYH02026415;AMYH02026416;BC003680;BC056415;CA449693;CH471111;DA096405;N39593;NM_001146075;NM_001146076;NM_024604 AAH56415;BAB15170;BAG61431;EAW57937;EAW57938;NP_001139547;NP_001139548;NP_078880;Q9H6T3 Hs.437855 1668286;2113010;2135475 D12S2170;WI-16433;WIAF-1692 FLJ21908 OTTHUMP00000241827;OTTHUMP00000241828;OTTHUMP00000241829;RNA polymerase II-associated protein 3 APPROVED protein-coding ENSG00000005175 HGNC:26151 07970 611477 REVIEWED 8548341 RPARP-AS1 RPARP antisense RNA 1 10 10 10 97950508 97956966 + 104209574 104216050 + 102449817 102456293 + 12477932;14702039;24133439;7566098 100505761 AA353944;ABBA01063154;ABBA01063155;AK091048;AL050035;AL121928;AMYH02023697;BC089416;NR_038937;NR_038938 Hs.656457 ncrna ENSG00000269609 HGNC:45238 VALIDATED 1316541 RPA1 replication protein A1, 70kDa ENCODES a protein that exhibits damaged DNA binding; single-stranded DNA binding; INVOLVED IN base-excision repair; DNA replication; double-strand break repair via homologous recombination; PARTICIPATES IN DNA replication pathway; homologous recombination pathway of double-strand break repair; mismatch repair pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN actin cytoskeleton; cytoplasm; DNA replication factor A complex; INTERACTS WITH 5-aza-2'-deoxycytidine; biphenyl-4-amine; bisphenol A 17 17 17 p13.3 1749843 1819455 + 1733273 1802848 + 1829979 1899554 + 1580863;2306716;6480464;6907045;7246926;8554872 18157157;19154342 10064605;10214908;10373438;10473346;10583946;10608806;10713094;10825162;11063722;11080452;11092888;11254741;11259578;11473323;11479296;11751427;11884592;11895905;11927569;11950880;11968016;11972036;12050365;12077133;12139939;12171929;12181313;12181327;12477932;12486030;12527904;12614612;12621583;12724401;12754299;12791985;12973351;1311258;14499497;14596605;14605214;14747526;14966274;15096578;15140983;15180989;15205463;15273694;15279788;15456284;15489334;15489903;15620706;15653682;15735006;15831485;15856006;15897895;15914671;15965237;16082227;16135809;16169070;16251902;16306615;16438930;16520097;16522650;16731533;16872911;16893181;16916636;17035231;17110927;17296725;17494052;17507928;17583916;17591703;17596542;17616578;17620599;17700069;17700070;17721672;17765923;17959650;17981954;18003706;18029348;18162465;18245774;18438969;18469000;18480432;18515800;18522944;18593712;18723675;18774935;18781797;19010961;19059499;19104052;19165145;19187036;19237606;19262689;19275579;19287380;19297315;19338310;19367581;19410544;19419957;19446504;19471022;19515846;19530647;19531213;19538122;19586055;19661379;19738201;19748364;19766185;19812417;19843584;19854130;20103649;20139621;20159562;20167590;20184389;20227374;20233725;20347428;20395205;20423048;20496165;2050703;20515732;20522537;20528769;20562859;20575039;20587534;20616048;20639865;20819778;21062395;21107010;21139048;21240188;21252943;21399625;21486569;21496876;21504906;21558276;21859891;21890473;21900206;21901111;21906983;21907836;21935481;21963094;21987572;21988832;22053931;22179778;22194613;22261722;22268729;22379092;22505724;22510597;22661229;22705371;22797063;22863883;22894931;22918586;22939629;22940245;22948311;22990118;23000965;23095756;23277564;23319600;23329831;23398456;23543748;23671665;23901102;24158819;24204272;24239288;24250222;24267891;24332808;24399297;24443570;24457600;24816145;24895130;24958773;25015289;25027693;7565690;7700386;7760808;8020972;8361542;8397206;8397207;8454588;8756712;8798463;8990123;9084803;9111189;9121429;9396813;9430682;9443979;9461578;9765279;9826763 6117 I3L2M5;I3L4R8;I3L524;P27694 AB209732;ABBA01054680;AC130689;AF167994;AK289704;AMYH02032754;AMYH02032755;AMYH02032756;AMYH02032757;AY599563;BC018126;CH471108;M63488;NM_002945 AAA36584;AAH18126;AAQ13598;AAS94324;ADR83314;BAD92969;BAF82393;EAW90574;NP_002936;P27694 Hs.461925 1672224;1675443;1688136;1690784;1725741;1770660;1850282;1852146;2164378;2177722;2218596 D17S1427E;D17S2106;G29183;G62062;RH17723;RH18502;RH65492;RH76450;RH93214;RPA1_1165;WI-20954 HSSB;MST075;REPA1;RF-A;RP-A;RPA70 MSTP075;OTTHUMP00000115691;RF-A protein 1;RP-A p70;replication factor A protein 1;replication protein A 70 kDa DNA-binding subunit;single-stranded DNA-binding protein protein-coding ENSG00000132383 HGNC:10289 01565 179835 VALIDATED 1318175 RORA RAR-related orphan receptor A The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014] 15 15 15 q22.2 37669158 37859340 - 60780483 61521502 - 60488284 61229303 - 1580863;6480464;8554872 10478845;10900268;11053433;11121580;11252722;12114512;12168086;12377782;12477932;14701856;14702039;14722075;14741380;14742449;15013753;15489334;15604093;15662020;15781255;15790933;15886715;16189514;16539693;16632463;16713569;17455211;17512500;17545671;18087039;18658046;19041634;19324970;19693801;19786043;19846067;19909500;19913121;19965867;20072116;20122401;20174623;20211758;20332535;20375269;20379614;20628086;20733416;20800221;20817722;20860503;21043485;21060049;21102462;21116278;21300955;21359227;21480365;21514275;21818335;21998696;22001757;22010049;22024429;22104449;22350413;22424883;22485150;22509368;22538398;22589738;22744720;22869035;23043388;23063525;23063684;23208419;23211525;23212062;23445660;23565190;23599027;23922987;23975195;24142618;24150227;24196956;24226095;24668754;24891616;7490103;7706239;7838158;7916608;7926749;7935491;8858107;9328355;9862959 6095 F1DAL0;H0YII6;H0YLS5;P35398 AB307694;ABBA01038942;ABBA01038943;ABBA01038944;ABBA01038945;ABBA01038946;AC009560;AC012404;AC022898;AC079068;AC087385;AC107241;AC107905;AK055969;AL530219;AL532048;AL832164;AMYH02030556;AMYH02030557;AMYH02030558;AMYH02030559;AMYH02030560;AMYH02030561;AMYH02030562;AMYH02030563;AMYH02030564;AMYH02030565;BC008831;BC033285;BC048264;BC100987;BC100988;BC100989;BC100990;BG705319;CH471082;CQ834188;CQ834190;CQ834192;CQ834194;DB482516;HQ692818;HQ709174;KC877546;KC877548;KC877551;KC877553;KC877555;KC877558;KC877560;KC877561;KC877563;KC877565;KC877566;KF454895;KF456062;KF456065;L14611;NG_029246;NM_002943;NM_134260;NM_134261;NM_134262;U04897;U04898;U04899;XM_005254584 AAA02963;AAA62658;AAA62659;AAA62660;AAH08831;AAI00988;AAI00989;AAI00990;AAI00991;ADZ17329;ADZ17381;BAH02285;CAH05309;CAH05310;CAH05311;CAH05312;EAW77593;EAW77594;EAW77595;EAW77596;NP_002934;NP_599022;NP_599023;NP_599024;P35398;XP_005254641 Hs.560343 1298250;1335133;1645939;1646273;1646833;1647224;1648407;1648973;1660549;1661663;1663397;1667003;1670110;1672937;1677520;1680922;1682599;1690472;1695182;1699740;1708678;1709290;1711946;1714235;1722621;1723573;1750703;1761113;1761565;1775054;1777775;1777991;1783162;1783184;1792910;1848350;2110709;2118895;2122068;2127841;2132099;2142148;2142150;2145741;2147099;2154649;2161519;2163591;2164920;2166051;2174608;2175600;2181795;2181984;2183711;2184073;2185596;2186553;5093996 1636;A007F12;A010A16;AFMa244wc9;D0S9037;D15S1239;D15S1285;D15S1286;D15S1288;D15S1343;D15S510;D15S548;D15S916;D15S970;G33045;G48231;G49584;G60394;IB1184;PMC16845P1;RH103476;RH119896;RH123241;RH15626;RH44557;RH44576;RH44599;RH44924;RH46100;RH46333;RH48082;RH66701;RH68707;RH68816;RH79719;RH92287;RH93932;RH99264;RORA_2996;SGC33753;SHGC-107773;SHGC-112188;SHGC-142223;SHGC-145118;SHGC-145563;SHGC-34398;SHGC-34807;SHGC-56795;SHGC-58073;SHGC-81480;SHGC-85843;STS-AA020923;STS-AA034058;STS-H87475;STS-N54497;STS-T90468;WI-13367;WI-16983;WI-22150 DKFZp686M2414;MGC119326;MGC119329;NR1F1;ROR1;ROR2;ROR3;RZR-ALPHA;RZRA OTTHUMP00000163657;OTTHUMP00000163658;OTTHUMP00000163666;RAR-related orphan receptor alpha;ROR-alpha;nuclear receptor ROR-alpha;nuclear receptor RZR-alpha;nuclear receptor subfamily 1 group F member 1;retinoic acid receptor-related orphan receptor alpha;retinoid-related orphan receptor alpha;retinoid-related orphan receptor-alpha;thyroid hormone nuclear receptor alpha variant 4;transcription factor RZR-alpha APPROVED protein-coding ENSG00000069667 HGNC:10258 02896 600825 REVIEWED 1315635 RPA3 replication protein A3, 14kDa ENCODES a protein that exhibits damaged DNA binding; single-stranded DNA binding; INVOLVED IN base-excision repair; DNA replication; double-strand break repair via homologous recombination; PARTICIPATES IN DNA replication pathway; homologous recombination pathway of double-strand break repair; mismatch repair pathway; FOUND IN DNA replication factor A complex; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; arsenous acid 7 7 7 p22 7644982 7725987 - 7676347 7758238 - 7636944 7718607 - 1580863;2306716;6480464;6907045;7246926 18157157;19154342 10214908;10449415;10473346;10583946;11080452;11081631;11173472;11254741;11473323;11927569;12477932;12614612;12690205;12724401;12791985;12853948;15489334;15965237;17035231;17353931;17494052;17765923;18029348;18270339;19010961;19237606;19338310;19666485;20201926;20360068;20496165;20522537;20562859;20575039;21139048;21145461;21216879;21504906;21558276;2159011;21734401;21890473;21906983;22053931;22261722;22505724;22863883;22939629;23000965;23319600;23573956;24332808;7700386;7760808;8020972;8454588;9084803;9111189;9430682;9461578;9765279;9826763;9847074 6119 A4D105;B5MC59;P35244 ABBA01056521;AC004948;AC007161;AK311842;AMYH02015193;BC005264;BC009868;BT007320;CH236948;CH471073;DQ003136;L07493;NM_002947 AAA58350;AAH05264;AAH09868;AAP35984;AAQ96878;AAX84517;BAG34784;EAL24304;EAW93603;EAW93604;EAW93605;NP_002938;P35244 Hs.487540 1341304;1649869;1689829;1690464;2127726;2130677;2140502;2184067;7184849 D7S1527;D7S2008;GDB:1317566;RH67981;RH80787;RPA3;SHGC-17982;STS-L07493 REPA3 OTTHUMP00000200929;OTTHUMP00000200930;OTTHUMP00000200931;OTTHUMP00000200992;RF-A protein 3;RP-A p14;replication factor A protein 3;replication protein A 14 kDa subunit protein-coding HGNC:10291 01567 179837 VALIDATED 7174900 RPEP1 ribulose-5-phosphate-3-epimerase pseudogene 1 5 5 5 61545474 61546126 - 64546956 64547608 - 65251129 65251781 - 100420512 ABBA01048332;AC008868;AMYH02011425;NG_024597 pseudo HGNC:44520 INFERRED 7174947 RPEP2 ribulose-5-phosphate-3-epimerase pseudogene 2 3 3 3 p24.2 25994044 25994754 + 26057160 26057870 + 26015669 26016379 + 645065 ABBA01025012;AC093411;AMYH02006427;NG_022243 1671398;2148898 D3S3034;SHGC-14318 pseudo HGNC:44521 INFERRED 1317896 RORC RAR-related orphan receptor C The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q21 124893230 124919042 - 151778547 151804348 - 151806071 151831872 - 1580863;6480464;8554872 10405182;10602018;10875923;10963675;11076863;11230166;11983153;12477932;12855222;14702039;15144897;15489334;15489336;15604093;16381901;16712791;17240331;17504012;18434325;18564921;19029904;19112760;19439651;19449310;19648312;19692128;19965867;20106535;20203100;20211758;20379614;20427770;20450585;21391996;21426710;21455110;21566134;21791252;21988832;22058032;22237416;22326581;22404826;22891280;22989874;23043388;23128233;23211525;23327801;23409930;23726039;23990625;24317395;24516202;24668754;24812667;7811290;8125298;9403063 6097 B6ZGS6;F1D8P6;P51449;Q6I9R9 AB307696;ABBA01049405;AF075096;AK097994;AK128522;AK223137;AK298460;AK315662;AL589765;AL834219;AMYH02001889;AW004872;BC031554;BC110571;BI520481;CB161467;CH471121;CR457436;HQ692834;NG_029118;NM_001001523;NM_005060;U16997;XM_005245424;XM_006711484;XR_426792 AAA64751;AAH31554;AAI10572;ABM81731;ABM84886;ADZ17345;BAD96857;BAG38028;BAG53561;BAG60673;BAH02287;CAD38900;CAG33717;CAL38693;CAL38751;EAW53405;EAW53406;NP_001001523;NP_005051;P51449;XP_005245481;XP_006711547 Hs.256022;Hs.607993 1715889;1858000;2169416;2217918 RH122679;RH16275;RORC_3000;SHGC-34816 MGC129539;NR1F3;RORG;RZR-GAMMA;RZRG;TOR OTTHUMP00000015253;OTTHUMP00000015254;RAR-related orphan nuclear receptor variant 2;RAR-related orphan receptor C, isoform a;RAR-related orphan receptor gamma;nuclear receptor ROR-gamma;nuclear receptor RZR-gamma;nuclear receptor subfamily 1 group F member 3;retinoic acid-binding receptor gamma;retinoid-related orphan receptor gamma;retinoid-related orphan receptor-gamma 2314803 GLUCO119_H APPROVED protein-coding ENSG00000143365 HGNC:10260 04250 602943 REVIEWED 7174898 RPEP3 ribulose-5-phosphate-3-epimerase pseudogene 3 1 1 1 26462110 26462782 + 28066465 28067137 + 27739954 27740626 + 100420555 ABBA01034985;AL020997;AMYH02000608;NG_027074 2166253 RH47146 pseudo HGNC:44522 INFERRED 1320609 RPE ribulose-5-phosphate-3-epimerase ENCODES a protein that exhibits identical protein binding; metal ion binding; protein homodimerization activity; INVOLVED IN carbohydrate metabolic process; pentose-phosphate shunt; PARTICIPATES IN pentose phosphate pathway; pentose phosphate pathway - non-oxidative phase; pentose and glucuronate interconversion pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; cobalt dichloride 2 2 2 q32-q33.3 204635382 204654317 + 210867289 210889784 + 210002565 210024601 + 1599574;1580863;1641814;6480464;6907045 12721358;2843500 11124703;12477932;14702039;15146197;15231747;15489334;15901843;16189514;16344560;20923965;22939629;24816145;2581946;3236368;3366467;7396409 6120 C9IYE8;C9IZU8;C9J6A7;C9J8S0;C9J9T0;C9JCL8;E7ESZ6;E7EW52;E9PBG9;F8WBT4;Q96AT9 AB075523;ABBA01062732;ABBA01062733;AC007038;AI222711;AJ224326;AK055724;AK056028;AK093658;AK096199;AK291035;AK303184;AK308741;AL833120;AMYH02005677;AMYH02005678;AY947714;BC005148;BC016764;BC063135;BC072401;CH471063;CN372165;CR992340;DA237285;DC403549;NM_001278282;NM_001278283;NM_001278285;NM_001278286;NM_001278288;NM_001278289;NM_006916;NM_199229;XM_006712677 AAH05148;AAH16764;AAH72401;AAX93087;AAY51626;ACE86672;ACE87356;BAB71076;BAC04212;BAF83724;BAG53229;BAG64278;CAA11895;EAW70472;EAW70473;EAW70474;NP_001265211;NP_001265212;NP_001265214;NP_001265215;NP_001265217;NP_001265218;NP_008847;NP_954699;Q96AT9;XP_006712740 Hs.282260;Hs.591638;Hs.734255 1681730;1690654;1734914;2191715;2220006;5021134 D2S1686E;G37533;MARC_5533-5534:1031674173:1;RH11048;RH91925;RPE__5521 MGC2636;RPE2-1 OTTHUMP00000206409;OTTHUMP00000206410;OTTHUMP00000206411;OTTHUMP00000206412;OTTHUMP00000206413;OTTHUMP00000206435;OTTHUMP00000206436;OTTHUMP00000206438;OTTHUMP00000206440;OTTHUMP00000206441;OTTHUMP00000206444;ribulose-phosphate 3-epimerase protein-coding ENSG00000197713 HGNC:10293 01608 180480 VALIDATED 7174892 RPEP4 ribulose-5-phosphate-3-epimerase pseudogene 4 22 22 22 13804625 13805223 + 30004889 30005487 + 29608900 29609498 + 100420665 ABBA01055273;AC005529;AMYH02038206;NG_027475 pseudo HGNC:44523 INFERRED 7174899 RPEP6 ribulose-5-phosphate-3-epimerase pseudogene 6 11 11 11 69144268 69144895 + 71842328 71842955 + 72131282 72131909 + 100420590 ABBA01017542;AP000812;NG_024529;NG_032935 pseudo HGNC:44525 INFERRED 7951258 RPEL1 ribulose-5-phosphate-3-epimerase-like 1 ENCODES a protein that exhibits metal ion binding (inferred); ribulose-phosphate 3-epimerase activity (inferred); INVOLVED IN pentose-phosphate shunt (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); aflatoxin B1 (ortholog) 10 10 10 q24.33 98745937 98748068 + 105005644 105007773 + 103245887 103248016 + 6480464 11181995;12477932;16201836 729020 Q2QD12 ABBA01063115;AL360001;AMYH02023723;BC137242;BC137243;BC157829;BC157875;BC171806;BC171885;CH471066;DQ120706;NM_001143909 AAI37243;AAI37244;AAI57830;AAI57876;AAI71806;AAI71885;ABC40667;EAW49655;NP_001137381;Q2QD12 Hs.458437 hCG2024410;rcRPE ribulose-5-phosphate-3-epimerase-like protein 1;ribulose-phosphate 3-epimerase-like protein 1 protein-coding ENSG00000235376 HGNC:45241 PROVISIONAL 1602209 RPF1 ribosome production factor 1 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; RNA binding; INVOLVED IN rRNA processing (inferred); FOUND IN nucleolus; INTERACTS WITH copper(2+) sulfate; cyclosporin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p22.3 83189094 83208206 + 84944920 84964033 + 84479237 84498350 + 6480464 11790298;11864606;12429849;12477932;14702039;15489334;16710414;17207965;21139048;21906983;21963094;22505724;23000965;24816145 80135 Q9H9Y2;X6R7Q1 AA761809;ABBA01045654;ABBA01045655;AF322053;AK022537;AL359584;AL359762;AL844170;AMYH02001377;BC016051;CH471097;CR627468;NM_025065 AAH16051;AAL37236;ADQ31725;BAB14086;CAH10670;CAH10671;EAW73237;NP_079341;Q9H9Y2 Hs.481202 1664464;1666276;5017585;5119128 BXDC5;D2S1920;RH68298;SHGC-34553 BXDC5;DKFZp761G0415;DKFZp761M0215;FLJ12475;RP11-118B23.1 2310066N05Rik;OTTHUMP00000011472;RNA processing factor 1 (RPF1);brix domain containing 5;brix domain-containing protein 5;ribosome biogenesis protein RPF1;ribosome production factor 1 APPROVED protein-coding HGNC:30350 15272 VALIDATED 6484022 RPF2P2 ribosome production factor 2 homolog (S. cerevisiae) pseudogene 2 4 4 4 q26 113842290 113843185 + 116549965 116550860 + 115628809 115629704 + 100128462 ABBA01063851;AC093744;AMYH02009964;NG_022073 pseudo HGNC:44015 INFERRED 1349883 RPF2P1 ribosome production factor 2 homolog (S. cerevisiae) pseudogene 1 INTERACTS WITH copper(2+) sulfate 20 20 20 q11.22 31089009 31089951 + 34340717 34341659 + 35752795 35753737 + 6480464 11780052 729608 ABBA01019149;AL357374;AMYH02037006;NG_009525 1808298;1817050;1821840;1822428;1826392;1836802;1839200;1842378;1976100;1976102;1976104;1976106;1976108;1976110;1976112;1976114;1976116;1976118;1976120;1976122;1976124;1976126;1976128;1976130;1976132;1976134;1976136;1976138;1976140;1976142;1976144;1976146;1976148;1976150;1976152;1976154;1976156;1976158;1976160;1976162;1976164;1976166;1976168;1976170;1976172;1976174;1976176;1976178;1976180;1976182;1976184;1976186;1976188;1976190;1976192;1976194;1976196;1976198;1976200;2215690;2215692;2215694;2215696;2215698;2215700;2215702 ECD05130;ECD09574;ECD12006;ECD12302;ECD14310;ECD19565;ECD20780;ECD22392;REN58938;REN58939;REN58940;REN58941;REN58942;REN58943;REN58944;REN58945;REN58946;REN58947;REN58948;REN58949;REN58950;REN58951;REN58952;REN58953;REN58954;REN58955;REN58956;REN58957;REN58958;REN58959;REN58960;REN58961;REN58962;REN58963;REN58964;REN58965;REN58966;REN58967;REN58968;REN58969;REN58970;REN58971;REN58972;REN58973;REN58974;REN58975;REN58976;REN58977;REN58978;REN58979;REN58980;REN58981;REN58982;REN58983;REN58984;REN58985;REN58986;REN58987;REN58988;stSG636840;stSG636841;stSG636842;stSG636846;stSG636847;stSG636848;stSG636849 BXDC1P;C20orf53;RPF2P;bA353C18.4 APPROVED pseudo HGNC:16186 INFERRED 1315787 RPF2 ribosome production factor 2 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 6 6 6 q21 112049860 112093367 + 111303274 111347299 + 110982017 111028263 + 1580863;6480464 12048200;12429849;12477932;14702039;15489334;15635413;17207965;17353931;18029348;19170763;19615732;21110914;21139048;21832049;22268729;22586326;24457600;24515614;24639526;24816145 84154 Q5VXM9;Q5VXN0;Q9H7B2;U3KQN5 ABBA01026099;ABBA01026100;AK024740;AK056264;AK292165;AK301662;AL357515;AL833613;AMYH02014298;BC005347;BC035314;BG529605;CH471051;NM_001289111;NM_032194 AAH35314;ADQ31673;BAB14983;BAF84854;BAG63137;EAW48301;EAW48302;EAW48303;EAW48304;NP_001276040;NP_115570;Q9H7B2 Hs.372265 1341511;1719711;1731369;1976192;1976194;1976196;5014039;5020881;7184802 D18S21;D22S1584;D6S1698;L17709;REN58984;REN58985;REN58986;RH123544 BXDC1;FLJ21087;bA397G5.4 OTTHUMP00000017009;OTTHUMP00000017010;OTTHUMP00000017011;brix domain containing 1;brix domain-containing protein 1;homolog of Rpf2;ribosomal processing factor 2 homolog;ribosome biogenesis protein RPF2 homolog;ribosome production factor 2 homolog APPROVED protein-coding HGNC:20870 12552 VALIDATED 1321922 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008] 14 14 14 q11 1621611 1684942 + 21756136 21819460 + 21287977 21351301 + 1599580;1599581;1580863;6480464;7240710;8554872;8699517 11283794;12920076 10958647;10958648;11104772;11528500;12140192;12477932;15489334;15772089;15800011;15914599;16272259;16339905;17082780;17306875;17558407;20090203;20301475;20801516;21224891;21685204;22183349;22990118;23278760;23505306;24722188 57096 G3V236;G3V3F7;G3V3I7;G3V577;H0YIY1;H0YJ18;H0YJ99;H0YJK6;Q96KN7 ABBA01061242;ABBA01061243;ABBA01061244;ABBA01061245;AF227257;AF260257;AF265666;AF265667;AJ417048;AJ417067;AK301780;AL135744;AMYH02028836;AMYH02028837;AMYH02028838;AW593388;AY914561;BC039089;BX571740;CH471078;NG_008933;NM_020366;XM_005267879;XM_005267880;XM_005267881;XM_006720208;XM_006720209;XM_006720210 AAF91371;AAG10000;AAG10001;AAG10246;AAH39089;AAI48361;AAX11416;BAG63237;CAD01135;CAD01136;CAE11866;EAW66388;EAW66389;EAW66390;EAW66391;NP_065099;Q96KN7;XP_005267936;XP_005267937;XP_005267938;XP_006720271;XP_006720272;XP_006720273 Hs.126035 1654799;1852645;2119207;2124354;2169285;2182239 G29214;G35415;G35863;G35988;G36043;G36091 CORD13;DKFZp686P0897;LCA6;RGI1;RGRIP;RPGRIP;RPGRIP1d OTTHUMP00000244342;OTTHUMP00000244343;OTTHUMP00000244344;RPGR-interacting protein 1;X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 APPROVED protein-coding ENSG00000092200 HGNC:13436 05673 605446;608194;613826 REVIEWED 1352855 RPGR retinitis pigmentosa GTPase regulator This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008] X X X p21.1 42266066 42324437 - 38128423 38186817 - 38269170 38327564 - 1599602;1599600;1599605;1580863;6480464;7240710;8553198;8553228;8553233;8553208;8553213;8553206;8553227;8553232;8553229;8553217;8553225;8553195;8553196;8553201;8553202;8553204;8553210;8547535;8554872;8699517 10094550;10725384;10937588;11857109;11875055;11968081;12123547;12657579;12859409;15671266;16055928;17893654;18361418;18579752;20007830;20021257;20384479;22563472;23701314;9331262;9855162 10401007;10480356;10482958;10737996;10932196;10958647;10958648;10970770;10980543;11104772;11180598;11702207;11754050;11992260;12140192;12160730;12477932;12766038;12920075;14516808;14564670;14566651;14627685;15342556;15364249;15489334;15723066;15772089;15790807;15914600;16043481;16052169;16086276;16273303;16387007;16917484;16935610;16936086;16969763;17093403;17195164;17249551;17286855;17325176;17405150;17480003;17724181;17898302;17923551;18029348;18188948;18332319;19218993;19429592;19430481;19460752;19815619;19834030;20064120;20090203;20238008;20301590;20574030;20591486;20631154;20801516;20806050;21145461;21174525;21227725;21683121;21857984;21866333;21914266;21933838;22183348;22577079;22888088;2300556;23150612;23372056;23559067;23681342;24454928;24489377;24664734;24816145;7611300;8125298;8673101;8817343;8889548;9326322;9399904;9418727;9677393;9990021 6103 H7C4H4;H7C4L1;Q92834 ABBA01047036;ABBA01047037;ABBA01047038;ABBA01047039;ABBA01047040;ABBA01047041;AF286471;AF286472;AJ238395;AJ318463;AK223491;AK291832;AL606748;AMYH02039171;AY927527;BC031624;BK005711;BP233620;BX644678;CA313540;CH471141;DQ426891;DQ980616;DQ980617;NG_009553;NM_000328;NM_001034853;U57629;X97668;XM_005272633;XM_006724538 AAC50481;AAG00550;AAG00551;AAH31624;ADZ16018;BAD97211;BAF84521;CAA66258;CAB54002;CAC86116;DAA05713;EAW59441;EAW59442;EAW59443;EAW59444;NP_000319;NP_001030025;Q92834;XP_005272690;XP_006724601 Hs.61438 1663488;1739673;2127097;2156762;2178070 AF020171;DXS7560E;RH66572;RH70678;STS-AA026948 COD1;CORDX1;CRD;PCDX;RP15;RP3;XLRP3;orf15 OTTHUMP00000023140;OTTHUMP00000215634;OTTHUMP00000215635;OTTHUMP00000215636;X-linked retinitis pigmentosa GTPase regulator;retinitis pigmentosa 15;retinitis pigmentosa 3 GTPase regulator APPROVED protein-coding ENSG00000156313 HGNC:10295 02425 300029;300455;300834;304020;312610 REVIEWED 732416 RPE65 retinal pigment epithelium-specific protein 65kDa This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq, Jul 2008] 1 1 1 p31 67184748 67205854 - 68894507 68915642 - 68428822 68453354 - 737730;1580863;6480464;6893650;6893661;6907045;7240710;9585653;8547535;8547536;8554872;9585645;9585650;9495932;8699517;9495919;9495917;9585652;9495923 14517541;16109648;16181461;16505056;17933883;20164818;20212494;21447403;21654732;21785167;21862641;23701314;24644049 10386590;10766140;11462243;11727200;11786058;12357075;12477932;12960219;1331074;14962443;15009723;15489334;15557452;15837919;16198348;16272259;16518657;16754667;17197551;17651254;17724218;17848510;18216020;18484312;18539930;18599565;18722466;18766986;18774912;19049981;19117922;19431183;19753312;19806502;19920137;19959640;20043869;20301475;20301590;20356843;20399883;20510285;20591486;20801516;20811047;21211845;21736383;21911650;21931134;22171060;22509104;23335596;23341016;23878505;24849605;7633413;8034329;8340400;8474143;9326927;9326941;9328280;9501220;9501877;9801879 6121 Q16518;Q2EKB8 ABBA01074506;AF039868;AK289925;AL139413;AMYH02001219;BC075035;BC075036;CH471059;DQ374435;KF454958;NG_008472;NM_000329;U18991;U20510;XM_006710811 AAA99012;AAC14586;AAC39660;AAH75035;AAH75036;ABD37636;BAF82614;EAX06478;NP_000320;Q16518;XP_006710874 Hs.2133 1679660;1685127;1793136;1793138;1793140;1793142;1793144;1793146;1793148;1793150;1793152;1793154;1793156;1793158;1793160;1793162;1793164;1849512 PMC19699P1;PMC19699P10;PMC19699P11;PMC19699P12;PMC19699P13;PMC19699P14;PMC19699P15;PMC19699P2;PMC19699P3;PMC19699P4;PMC19699P5;PMC19699P6;PMC19699P7;PMC19699P8;PMC19699P9;RH80292;RH92230;SHGC-31528 BCO3;LCA2;RP20;mRPE65;p63;rd12;sRPE65 BCO family, member 3;OTTHUMP00000010788;RBP-binding membrane protein;all-trans-retinyl-palmitate hydrolase;retinal pigment epithelium, 65 kda;retinal pigment epithelium-specific 65 kDa protein;retinitis pigmentosa 20 (autosomal recessive);retinoid isomerohydrolase;retinol isomerase APPROVED protein-coding ENSG00000116745 HGNC:10294 01569 180069;204100;613794 REVIEWED 1603695 RPGRIP1L RPGRIP1-like The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q12.2 38148632 38252362 - 53633818 53737771 - 53599906 53703859 - 6480464;7240710;8554872;8699517 10231032;12107413;12477932;14702039;16344560;17558407;17558409;17960139;18256137;18281315;18426861;18565097;19066617;19389623;19410446;19430481;19464661;19574260;19844207;19913121;20301500;20301743;20519441;20628086;20865646;21068128;21139048;21254220;21685204;21857984;22183348;22425971;22876109;23678272;8889548 23322 H3BPF5;H3BPS4;H3BS47;H3BV03;I3L1B5;I3L2P2;J3QLR9;Q68CZ1 AB023222;ABBA01066497;ABBA01066498;AC007497;AC007909;AC084795;AK026552;AK093307;AK096333;AK304790;AK307929;AK308390;AMYH02032047;AMYH02032048;BC017977;BC136433;BM683568;BQ576116;CD674885;CH471092;CR749645;DA156084;DC423209;EF565106;NG_008991;NM_001127897;NM_015272;XM_005255867;XM_005255868;XM_005255869;XM_005255870;XM_005255871 AAH17977;AAI36434;BAA76849;BAG65540;CAH18439;EAW82810;NP_001121369;NP_056087;Q68CZ1;XP_005255924;XP_005255925;XP_005255926;XP_005255927;XP_005255928 Hs.298382 1337425;1339622;1664198;1718735;1758935;1777981;2173609;5127895 D16S3137;D16S415;RH123056;SHGC-151097;SHGC-152085;SHGC-56694;SHGC-60833;WI-11251 CORS3;DKFZp686C0668;FTM;JBTS7;KIAA1005;MKS5;NPHP8;PPP1R134 RPGR-interacting protein 1-like protein;RPGRIP1-like protein;fantom homolog;nephrocystin 8;nephrocystin-8;protein fantom APPROVED protein-coding ENSG00000103494 HGNC:29168 17204 216360;610937;611560;611561 REVIEWED 1347963 RPH3AL rabphilin 3A-like (without C2 domains) The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010] 17 17 17 p13.3 162901 290141 - 62180 202633 - 212389 386254 - 1580863;6480464;8554872 10395805;10707984;11134008;12375017;12446671;12477932;12578829;12621583;14593078;14702039;15003533;15159548;15342556;15489334;16344560;17981610;19212825;20379614;21502085;21988832;9367993 9501 A8K7D5;I3L181;I3L1Q0;I3L2G8;I3L2I9;I3L2N0;I3L2W0;I3L2X0;I3L308;I3L349;I3L3M9;I3NI49;Q9UNE2 ABBA01015241;ABBA01015242;ABBA01015243;ABBA01015244;AC108004;AC129507;AC207589;AC211856;AC214012;AC216025;AC240137;AC243301;AF129812;AK000469;AK291950;AMYH02032712;AMYH02032713;AMYH02032714;BC005153;BC093776;BC113413;BC143311;BF507559;BP275333;BU197069;BU568991;CH471108;DA378956;NG_023031;NM_001190411;NM_001190412;NM_001190413;NM_006987;XM_006721363;XM_006725251 AAD45582;AAH05153;AAH93776;AAI13414;ADR82928;BAA91186;BAF84639;EAW90669;EAW90670;EAW90671;EAW90672;NP_001177340;NP_001177341;NP_001177342;NP_008918;Q9UNE2;XP_006721426;XP_006725314 Hs.651925 1340669;1693502;1699426;1739517;1761759;1783596;2139710;2173544 D17S1866;D17S34;D17S643;RH103304;RH11606;SHGC-145724;SHGC-156242;SHGC-58343 NOC2 OTTHUMP00000115306;no C2 domains protein;rab effector Noc2 APPROVED protein-coding ENSG00000181031 HGNC:10296 05345 604881 REVIEWED 1322805 RPIA ribose 5-phosphate isomerase A The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010] 2 2 2 p11.2 87738845 87795148 - 88991176 89050452 + 88691658 88750935 + 1599574;1580863;1641814;6480464;6907045;7240710;8554872;8699517 12721358;2843500 12477932;14988808;15489334;16189514;18987987;19015949;19322201;19913121;20379614;20628086;21139048;22053931;23000965;24722188;7396409;7758956 22934 P49247;Q53R32 ABBA01018821;AC062029;AC096579;AC244205;AY050633;BC015529;BF063086;CB989690;CH471215;L35035;NG_016710;NM_144563 AAH15529;AAK95569;AAY14778;AAY24200;EAW77066;EAW77067;NP_653164;P49247 Hs.469264 1682664;1777931;2108429;2157411;2171141 RH10995;RH45144;RH69369;RH98874;RPIA_9289 RPI OTTHUMP00000160851;phosphoriboisomerase;ribose 5-phosphate epimerase;ribose-5-phosphate isomerase APPROVED protein-coding ENSG00000153574 HGNC:10297 01589 180430;608611 REVIEWED 1346580 RPL10AP1 ribosomal protein L10a pseudogene 1 14 14 14 q32.32 83932618 83933323 - 103878424 103879129 - 103412087 103412792 - 19123937 319135 ABBA01048429;AL133367;AMYH02029923;NG_002513;NG_030339 RPL10A_6_1413 pseudo HGNC:19813 INFERRED 732410 RPL10A ribosomal protein L10a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 6 6 6 p21.31 36990157 36992537 + 35436178 35438558 + 35468401 35470781 + 6480464 11790298;12477932;12694581;12777385;12962325;14567916;14574404;15161933;15189156;15342556;15489334;15635413;16196087;16541025;18274552;18781797;18854154;19596686;19710015;19738201;19946888;20020773;20164180;20434207;20877624;21081666;21139048;21145461;21182205;21319273;21890473;21906983;21942715;21963094;21988832;22118674;22505724;22586326;22623428;22939629;23000965;23246001;23398456;23443559;24457600;24583282;24654937;24816145;7609734;8012384;8607874;8722009;9582194;9647638 4736 P62906;Q1JQ76 AB082926;ABBA01038234;AF086557;AK313181;AL022721;AMYH02013541;BC006791;BC011366;BC013864;BC070216;BC116456;BP318268;BT020040;BT020041;CH471081;HC250967;HC311156;NM_007104;U12404;Z54966;Z62020 AAA86463;AAH06791;AAH11366;AAH70216;AAI16457;AAV38843;AAV38844;ABM82056;ABM85235;BAC16802;BAG35998;CBJ05781;CBJ21233;EAX03831;EAX03832;EAX03833;EAX03834;NP_009035;P62906 Hs.148340;Hs.546269 5113852 RH80448 CSA19;Csa-19;L10A;NEDD-6;NEDD6 60S ribosomal protein L10a;OTTHUMP00000016255;neural precursor cell expressed developmentally down-regulated protein 6 APPROVED protein-coding ENSG00000198755 HGNC:10299 10199 615660 REVIEWED 2802482 RPIAP1 ribose 5-phosphate isomerase A pseudogene 1 18 18 18 q21.33 56343781 56344240 - 59624327 59624786 - 61957094 61957553 - 11237011;15496913;16177791 619449 ABBA01056188;AC090354;AMYH02034864;NG_023037 pseudo HGNC:27250 INFERRED 1347244 RPH3A rabphilin 3A Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and RPH3A is a RAB3A effector (Lin et al., 2007 [PubMed 17149709]).[supplied by OMIM, Jul 2008] 12 12 12 q24.13 112856609 112963778 + 113229343 113336686 + 112791744 112898881 + 1580863;6480464;8554872 10025402;10099709;10231032;11377421;12477932;12578829;12871946;12937130;15207266;15489334;16344560;17149709;17877635;17981610;18029348;22139419;24200817;24302762;7707875;7802677;7822236;7999065;8060298;8636125;8889548;8901523;9244430 22895 F8VNP7;F8VNU2;F8VNW3;F8VP47;F8VR41;F8VRJ1;F8VTR7;F8VV58;F8VVK8;F8VZS2;F8W045;F8W116;F8W131;F8W1A3;F8W1K7;Q9Y2J0 AB023202;ABBA01019940;AC004465;AC004551;AK295696;AK296296;AK316112;AMYH02027231;BC002605;BC009843;BC017259;BU738474;BX647281;CH471054;DA332963;NM_001143854;NM_014954 AAH02605;AAH09843;AAH17259;BAA76829;BAH12159;BAH12307;BAH14483;EAW98014;EAW98015;EAW98016;EAW98017;EAW98018;NP_001137326;NP_055769;Q9Y2J0 Hs.21239 1757253;1965852;2109773;2135143;2138072;2141989;2144354;2147666 A004U31;D12S1857;D12S861;REN53801;RPH3A_9282;SHGC-144673;WI-10614;WI-11137 KIAA0985 OTTHUMP00000241932;OTTHUMP00000241934;OTTHUMP00000241936;OTTHUMP00000241937;OTTHUMP00000242034;exophilin-1;rabphilin 3A homolog;rabphilin-3A APPROVED protein-coding ENSG00000089169 HGNC:17056 15273 612159 VALIDATED 1353200 RPL10AP2 ribosomal protein L10a pseudogene 2 8 8 8 q11.1 44052697 44053412 + 48068710 48069425 + 47157087 47157802 + 19123937 253986 ABBA01018446;AC120036;AMYH02017932;NG_005655 RPL10A_5_900 pseudo HGNC:31081 INFERRED 2303338 RPL10AP3 ribosomal protein L10a pseudogene 3 8 8 8 p12 33130334 33131049 - 34180478 34181193 - 34322960 34323675 - 19123937;21145461;22863883 137107 ABBA01023596;AC090993;AMYH02017775;NG_009498 1704520 SHGC-83044 HsT23218;RPL10A_5_891 pseudo HGNC:29803 INFERRED 2305700 RPL10AP10 ribosomal protein L10a pseudogene 10 5 5 5 q31.2 134068167 134078467 + 137946344 137956653 + 138610655 138620964 + 19123937;19240791 391836 ABBA01068664;AC113340;AMYH02012299;AMYH02012300;NG_010824 1331572;7186038 D5S476 RPL10A_4_618 pseudo HGNC:35971 INFERRED 1350175 RPL10 ribosomal protein L10 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L10E family of ribosomal proteins. It is located in the cytoplasm. In vitro studies have shown that the chicken protein can bind to c-Jun and can repress c-Jun-mediated transcriptional activation, but these activities have not been demonstrated in vivo. This gene was initially identified as a candidate for a Wilms tumor suppressor gene, but later studies determined that this gene is not involved in the suppression of Wilms tumor. This gene has been referred to as 'laminin receptor homolog' because a chimeric transcript consisting of sequence from this gene and sequence from the laminin receptor gene was isolated; however, it is not believed that this gene encodes a laminin receptor. Alternative splicing results in multiple transcript variants. This gene also uses multiple polyA signals, with the 3'-most polyA signal overlapping the deoxyribonuclease I-like 1 gene on the opposite strand. This gene is co-transcribed with the small nucleolar RNA gene U70, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Feb 2012] X X X q28 153787629 153791737 + 153626571 153630901 + 154398230 154402339 + 1580863;6480464 11076863;11256614;12138090;12477932;12777385;12962325;1303197;1330878;1339145;14567916;15189156;15303970;1534224;15489334;15489336;15635413;15772651;15790807;16169070;16196087;16331298;16341674;16381901;1658743;16741966;16940977;17361185;17566674;18007048;18029348;18258260;18457437;18781797;19166581;19738201;19850743;19913121;19928837;19946888;20020773;20301615;20628086;21139048;21145461;21182205;21567917;21890473;21900206;21906983;21907836;21963094;21987572;22145905;22178446;22505724;22586326;22623428;22751105;22863883;22912744;22939629;22944692;23000965;23084401;23125841;23246001;23263491;23398456;23402259;23443559;24250222;24457600;24654937;24722188;24816145;7821789;8076819;8125298;8668549;8681137;8722009;8733135;8780716;9016777;9204867;9443083;9582194 6134 A6QRI9;B8A6G2;F8W7C6;H7C123;H7C2C5;H7C2U2;P27635;X1WI28 AA187603;AB007170;AB019572;ABBA01045288;AC245140;AF218023;AF486812;AK026568;AK027197;AK130582;AK223309;AK307511;AY927570;BC003358;BC018570;BC026276;BC071918;BC095425;BF589060;BF667333;BM845289;BX647954;BX936346;BX936347;CD521460;CH471172;CR456797;CR542069;D17268;D28410;DQ369703;DQ369704;DQ369705;DQ369706;DQ369707;DQ369708;DQ369709;DQ369710;DQ369711;DQ369712;DQ369713;DQ369714;DQ369715;DQ369716;F30590;KJ534934;KJ534935;KJ534979;L44140;M64241;M73791;M81806;NG_012890;NM_001256577;NM_001256580;NM_006013;S35960;S64168;S64169;U37218 AAA36021;AAA36378;AAA63253;AAA92646;AAB22173;AAB27665;AAD14832;AAG17265;AAH03358;AAH26276;AAH71918;AAL88713;ABC88559;ABC88560;ABC88561;ABC88562;ABC88563;ABC88564;ABC88565;ABC88566;ABC88567;ABC88568;ABC88569;ABC88570;ABC88571;ABC88572;AHW56574;AHW56575;AHW56619;BAA05776;BAA28595;BAB15688;BAD97029;CAG33078;CAG46866;CAL38215;EAW72736;EAW72737;EAW72738;EAW72739;EAW72740;EAW72741;NP_001243506;NP_001243509;NP_006004;P27635 Hs.534404 1665315;1677608;1736680;1748023;1801252;1801254;1801638;1802240;1803060;2036802;2036804;2036806;2036808;2036810;2036812;2036814;2036816;2036818;2036820;2036822;2036824;2036826;2036828;2036830;2036832;2036834;2036836;2036838;2036840;2036842;2036844;2036846;2036848;2036850;2036852;2036860;2102500;2102502;2102504;2102506;2102508;5094492;5109701 D17S1505E;DXS6979E;ECD01498;ECD01499;ECD01698;ECD02003;ECD02421;G54829;G65816;REN89410;REN89412;REN89413;REN89414;REN89415;REN89416;REN89417;REN89418;REN89419;REN89420;REN89421;REN89422;REN89423;REN89424;REN89425;REN89426;REN89427;REN89428;REN89429;REN89430;REN89431;REN89432;REN89433;REN89434;REN89435;REN89436;REN89440;RH45180;RP_L10;stSG604018;stSG604019;stSG604020;stSG604021;stSG604022 AUTSX5;DKFZp686J1851;DXS648;DXS648E;FLJ23544;FLJ27072;L10;NOV;QM 60S ribosomal protein L10;OTTHUMP00000031945;OTTHUMP00000063212;OTTHUMP00000063213;OTTHUMP00000183506;OTTHUMP00000196447;Wilms tumor-related protein;laminin receptor homolog;tumor suppressor QM APPROVED protein-coding ENSG00000147403 HGNC:10298 02421 300847;312173 REVIEWED 2305801 RPL10AP5 ribosomal protein L10a pseudogene 5 1 1 1 q43 215783904 215784592 + 242528462 242529150 + 242365160 242365848 + 19123937 645998 ABBA01022808;AL360271;AMYH02003047;NG_009789 FLJ40773;RPL10A_2_189 pseudo HGNC:36770 INFERRED 2305674 RPL10AP7 ribosomal protein L10a pseudogene 7 4 4 4 p15.32 16197189 16197920 - 15732553 15733284 - 15730930 15731661 - 19123937 100128646 ABBA01032572;AC114744;AMYH02008802;NG_010699 1852460;2178676;2178678;2217080 BST1_2659;RH36393;SHGC-35585;SHGC-50363 RPL10A_2_460 pseudo HGNC:35601 INFERRED 2305553 RPL10AP12 ribosomal protein L10a pseudogene 12 16 16 16 q24.1 70152531 70153254 - 85849452 85850173 - 85815846 85816567 - 19123937 401863 ABBA01034279;AC018695;AMYH02032599;NG_009471 RPL10A_7_1502 pseudo HGNC:36108 INFERRED 2305558 RPL10AP11 ribosomal protein L10a pseudogene 11 8 8 8 p22 17206714 17207419 - 18240753 18241458 - 18383243 18383948 - 19123937 392206 ABBA01021573;AC025062;AMYH02017545;NG_010051 RPL10A_4_880 pseudo HGNC:35875 INFERRED 2305568 RPL10AP6 ribosomal protein L10a pseudogene 6 3 3 3 p14.2 61740970 61741683 - 61728098 61728811 - 61742424 61743137 - 6480464 19123937;22118674 100128936 ABBA01024338;AC096919;AMYH02006921;NG_010877 RPL10A_1_376 pseudo HGNC:36504 INFERRED 2305588 RPL10AP8 ribosomal protein L10a pseudogene 8 5 5 5 q13.2 67564434 67573608 + 71669046 71678220 + 72373219 72382393 + 19123937 644154 ABBA01061905;AC093278;AMYH02011553;NG_010309 RPL10A_3_573 pseudo HGNC:36709 INFERRED 1345803 RPL10P1 ribosomal protein L10 pseudogene 1 21 21 21 q21.3 13975851 13976561 - 28792532 28793490 - 27420213 27421171 - 19123937 100288252 ABBA01057229;AMYH02037670;AP001605;NG_021990 5022810 RPL10 RPL10P;RPL10_7_1723 pseudo ENSG00000217026 HGNC:10300 INFERRED 1314230 RPL10L ribosomal protein L10-like This gene encodes a protein sharing sequence similarity with ribosomal protein L10. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. This gene is intronless. [provided by RefSeq, Jul 2008] 14 14 14 q21.2 26980729 26981541 - 47120213 47121041 - 46651013 46651825 - 1580863;6480464;8554872 11076863;11256614;12477932;12490704;15489334;15489336;16381901;18029348;19123937;19333399;19946888;21145461;21319273;21726808;21890473;21906983;21963094;21987572;22118674;22505724;22939629;23000965;23443559;24332808;24816145 140801 Q96L21 AB063605;AB063608;ABBA01018080;AK130863;AL591768;AMYH02029118;BC014310;BC066312;CH471078;HC007270;NM_080746 AAH14310;AAH66312;BAC19833;BAC19835;CAL37812;CBH19440;EAW65775;NP_542784;Q96L21 Hs.308332 1792258 PMC140079P1 FLJ27353;RPL10_5_1358 60S ribosomal protein L10-like;OTTHUMP00000212540;ribosomal protein L10-like protein APPROVED protein-coding ENSG00000165496 HGNC:17976 11753 REVIEWED 2305892 RPL10AP4 ribosomal protein L10a pseudogene 4 1 1 1 p31.1 79906937 79907651 + 81674220 81674934 + 81208535 81209249 + 19123937 343301 ABBA01074356;AL357632;AMYH02001348;NG_009989 RPL10A_1_67 pseudo HGNC:35873 INFERRED 2305901 RPL10P11 ribosomal protein L10 pseudogene 11 7 7 7 q21.11 74426845 74427586 - 79725837 79726578 - 80096521 80097262 - 19123937 100128030 ABBA01058046;AC004159;AMYH02016137;CH236949;NG_010158 1792258 PMC140079P1 RPL10_4_817 pseudo HGNC:36565 INFERRED 6482931 RPL10P14 ribosomal protein L10 pseudogene 14 16 16 16 q12.1 34699520 34699896 - 50185130 50185506 - 50151219 50151595 - 390729 ABBA01000879;AC007610;AMYH02032009;NG_009909 pseudo HGNC:43897 INFERRED 1342477 RPL10P2 ribosomal protein L10 pseudogene 2 6 6 6 p22.1 28785035 28785675 + 27179023 27179663 + 27211244 27211884 + 19123937 442171 ABBA01037989;AL121934;AMYH02013378;NG_009499 RPL10_2_670;RPL10p;bA209A2.1 pseudo HGNC:13975 INFERRED 2304619 RPL10P10 ribosomal protein L10 pseudogene 10 6 6 6 p12.1 56129481 56130141 - 54467285 54467945 - 54602487 54603147 - 19123937 100129930 ABBA01050515;AL136306;AMYH02013755;NG_010721 RPL10_3_705 pseudo HGNC:35486 INFERRED 2303341 RPL10P3 ribosomal protein L10 pseudogene 3 9 9 9 q33.1 90590628 90591095 - 119942907 119943374 - 117180628 117181095 - 619445 ABBA01016278;AL355608;AMYH02021544;NG_009502;NG_021409 bA567J2.2 pseudo HGNC:23300 INFERRED 1344829 RPA2 replication protein A2, 32kDa ENCODES a protein that exhibits damaged DNA binding; enzyme binding; protein phosphatase binding; INVOLVED IN base-excision repair; DNA replication; double-strand break repair via homologous recombination; PARTICIPATES IN DNA replication pathway; homologous recombination pathway of double-strand break repair; mismatch repair pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN chromosome, telomeric region; DNA replication factor A complex; nucleus; INTERACTS WITH 3,3',5-triiodo-L-thyronine; atrazine; benzo[a]pyrene 1 1 1 p35 26613902 26637086 - 28218035 28241255 - 27891524 27914797 - 1580863;2306716;6480464;6907045;7246926;8554872 18157157;19154342 10064605;10214908;10393198;10449415;10583946;10653628;10655057;10713094;10875894;10982866;11000264;11080452;11081631;11173472;11254741;11259578;11473323;11731442;11927569;12139939;12477932;12509449;12614612;12724401;12754299;12791985;12814551;1318195;15205463;15489334;15793585;15856006;15897895;16135809;16169070;16344560;16540648;16710414;16956949;17035231;17525332;17583916;17765923;17928296;17959650;18029348;18480432;18596088;19010961;19237606;19338310;19386720;19586055;19661379;19666485;19671522;19704001;19738201;19793862;19834905;20130019;20154705;20201926;20347428;20360068;20496165;20522537;20562859;20670893;20679368;20824083;21062395;21137066;21139048;21145461;21496876;21504906;21526938;21558276;21664290;21731742;21832049;21859891;21890473;21906983;21963094;21988832;22171270;22242598;22261722;22379092;22505724;22521144;22684010;22863883;22939629;23000965;23047005;23319600;23393223;23398456;2406247;24250222;24332808;24730652;24816145;24910198;7565690;7700386;7760808;8020972;8454588;9045683;9084803;9111189;9139719;9295339;9430682;9461578;9765279;9826763 6118 B4DUL2;P15927;Q5TEJ0;Q5TEJ7 ABBA01035002;ABBA01035003;ABBA01035004;AK298759;AK300691;AK312956;AL109927;AMYH02000612;BC001630;BC012157;BC021257;BG107669;BQ006360;BX333932;CH471059;CR450348;DB025488;DQ001128;J05249;NM_001286076;NM_001297558;NM_002946;XM_005245965 AAA36560;AAH01630;AAH12157;AAH21257;AAX84514;ABM83278;ABM86747;BAG35795;BAG60901;BAG62374;CAG29344;EAX07724;NP_001273005;NP_001284487;NP_002937;P15927;XP_005246022 Hs.79411 1658476;1685878;1692980;1769960;1780460;2113572;2149354 AL034207;G30996;RH68976;RPA2_V135;SHGC-124;SHGC-30251;stbA460I13SP6 REPA2;RPA32 OTTHUMP00000004008;OTTHUMP00000004009;OTTHUMP00000004010;OTTHUMP00000004011;RF-A protein 2;RP-A p32;RP-A p34;replication factor A protein 2;replication protein A 32 kDa subunit;replication protein A 34 kDa subunit protein-coding ENSG00000117748 HGNC:10290 01566 179836 VALIDATED 2304853 RPL10AP9 ribosomal protein L10a pseudogene 9 5 5 5 q14.3 82071809 82072514 - 86180027 86180732 - 86884210 86884915 - 6480464 19123937;22118674;24025145 728979 ABBA01062118;AC091429;AMYH02011742;NG_010772 RPL10A_3_593 pseudo HGNC:35947 INFERRED 2305739 RPL10P9 ribosomal protein L10 pseudogene 9 5 5 5 q34 164078645 164079369 + 168043301 168044025 + 168616296 168617020 + 19123937 389342 ABBA01044122;AC008590;AMYH02012700;NG_011151 RPL10_1_637 pseudo HGNC:35579 INFERRED 2304863 RPL10P5 ribosomal protein L10 pseudogene 5 2 2 2 q12.3 103638672 103639392 - 109328692 109329412 - 108712236 108712956 - 19123937 644911 ABBA01000761;AC010095;AMYH02004511;NG_010252 RPL10_1_257 pseudo HGNC:35724 INFERRED 2305773 RPL11P1 ribosomal protein L11 pseudogene 1 2 2 2 p14 65033518 65034126 - 65187142 65187750 - 64960008 64960616 - 19123937 100133170 ABBA01075428;AC007386;AMYH02003971;NG_010269 RPL11_1_236 pseudo HGNC:37021 INFERRED 2305763 RPL10P7 ribosomal protein L10 pseudogene 7 3 3 3 q13.33 117762922 117763546 - 119354373 119354997 - 119635526 119636150 - 19123937 442086 ABBA01061581;AC073352;AMYH02007503;NG_011185 1752473 SHGC-106397 RPL10_2_395 pseudo HGNC:35974 INFERRED 1318594 RPL11 ribosomal protein L11 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010] 1 1 1 p36.1-p35 22348001 22352622 + 24018269 24022915 + 23691779 23696425 + 6480464;6484113;7240710;8554872;8699517 10343117;10353821;11790298;12477932;12777385;12815950;12842086;12962325;14567916;14612427;15064750;15152193;15189156;15195100;15308643;15314173;15314174;15489334;16803902;17110929;17116689;17242401;17310983;17373842;17599065;17620599;18274552;18389627;18426907;18457437;18560357;18697920;19061985;19167051;19191325;19287375;19417104;19596686;19713960;19738201;19773262;19805454;19946888;20020773;20056613;20194507;20301769;20378560;20547751;20554519;20639865;20935493;20972266;21097889;21139048;21145461;21182205;21319273;21399665;21804542;21807902;21853274;21890473;21903592;21906983;21963094;21987572;21988832;22053931;22081073;22145905;22178446;22190735;22467867;22505724;22623428;22833095;22863883;22939629;22990118;23000965;23077236;23169665;23182705;23246001;23398456;23443559;23463506;23612971;23728348;23776465;23862649;23874603;24045667;24061479;24457600;24463277;24583282;24657165;24816145;25015289;7748210;7821789;8722009;9582194 6135 P62913;Q5VVC8;Q5VVC9;Q5VVD0 AB007171;ABBA01059882;AF101385;AF432212;AK311816;AL451000;AMYH02000502;AY871274;BC018970;BF240826;BU954396;CA335141;CH471134;D28357;L05092;NG_011741;NM_000975;NM_001199802;X79234 AAC15856;AAD20460;AAH18970;AAL99919;AAX11430;ABM87711;ABW03860;BAA05723;BAA25831;BAG34759;CAA55816;EAW95067;EAW95068;NP_000966;NP_001186731;P62913 Hs.719951 1732848;1851171;5108196;5123558 D1S1285;D1S3382;D5S2608;SHGC-74406 DBA7;GIG34;L11 60S ribosomal protein L11;CLL-associated antigen KW-12;OTTHUMP00000002956;OTTHUMP00000003145;cell growth-inhibiting protein 34 APPROVED protein-coding ENSG00000142676 HGNC:10301 10364 604175;612562 REVIEWED 2304992 RPL11P2 ribosomal protein L11 pseudogene 2 5 5 5 q23.3 126455963 126456554 + 130325572 130326164 + 130989879 130990471 + 17903298;19123937 133629 ABBA01068833;AC113367;AMYH02012192;NG_009748 RPL11_1_612 pseudo HGNC:36983 INFERRED 2305845 RPL11P5 ribosomal protein L11 pseudogene 5 12 12 12 q24.31 120666059 120666661 - 121031767 121032369 - 120593964 120594566 - 19123937 643499 ABBA01020129;AC063943;AMYH02027377;NG_009723 RPL11_3_1291 pseudo HGNC:36849 INFERRED 1352569 RPL12P1 ribosomal protein L12 pseudogene 1 6 6 6 p21.32 34922185 34922814 - 33367792 33368421 - 33400015 33400644 - 19123937;19167051 729727 ABBA01038147;AL021366;AL662799;AMYH02013486;BX088650;BX248088;NG_006554 CAA16156 CICK0721Q.1;RPL12-L;RPL12_5_682;dJ570F3.5 pseudo HGNC:13976 INFERRED 1606374 RPL12P10 ribosomal protein L12 pseudogene 10 7 7 7 p15.3 22907797 22908408 + 22921440 22922051 + 22881821 22882432 + 19123937 392872 ABBA01056698;AC005682;AMYH02015352;CH236948;NG_005576 RPL12_8_793 pseudo HGNC:22583 INFERRED 1342774 RPL12P11 ribosomal protein L12 pseudogene 11 20 20 20 q12 36886633 36887264 + 40175974 40176605 + 41547335 41547966 + 19123937 128467 ABBA01052579;AL031669;AMYH02037092;NG_000964 RPL12L2;RPL12_22_1703;dJ661I20.1 pseudo HGNC:15835 INFERRED 1346828 RPL12P12 ribosomal protein L12 pseudogene 12 20 20 20 p11.23 19878120 19878744 - 19804051 19804675 - 19823407 19824031 - 19123937 85824 ABBA01054076;AL132821;AMYH02036797;NG_000945 RPL12L3;RPL12_16_1689;dJ999L4.1 pseudo HGNC:15951 INFERRED 1314871 RPL12 ribosomal protein L12 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 9 9 9 q34 100860830 100864559 - 130209953 130213711 - 127447674 127451432 - 1580863;6480464 11101529;11790298;11809816;12477932;12777385;12962325;14567916;14702039;15064750;15164053;15189156;15489334;15592455;15635413;16169070;16712791;16964243;17081983;17620599;18274552;18457437;18781797;18854154;19596686;19738201;19834535;19946888;20020773;20085233;20473970;20583170;21139048;21145461;21182205;21319273;21832049;21853274;21890473;21906983;21942715;21963094;22003127;22118674;22505724;22623428;22939629;22990118;23000965;23169665;23246001;23314748;23398456;23443559;23463506;23862649;24244333;24457600;24816145;25015289;7821789;8441690;8722009;9013569;9582194 6136 P30050;Q59FI9 AB209471;ABBA01043833;AK026526;AK057602;AL445222;AMYH02021683;BC050644;BC059950;BC094831;BC105603;CB155565;CH471090;D28443;L06505;NG_032008;NM_000976 AAA36157;AAH50644;AAH59950;AAH94831;AAI05604;BAA05809;BAD92708;EAW87666;EAW87667;EAW87668;EAW87669;EAW87670;NP_000967;P30050 Hs.408054 1665273;2182826;5024145;5096049 A008L27;D9S1721;G33150;RH16398 L12 60S ribosomal protein L12;OTTHUMP00000022186 APPROVED protein-coding ENSG00000197958 HGNC:10302 01603 180475 REVIEWED 2304902 RPL11P3 ribosomal protein L11 pseudogene 3 10 10 10 q23.3 83451682 83452282 + 89705237 89705837 + 87945480 87946080 + 19123937 100271271 ABBA01021960;AC063965;AMYH02023500;NG_007466;NG_010870 RPL11_2_1077 pseudo HGNC:36342 INFERRED 2304901 RPL11P4 ribosomal protein L11 pseudogene 4 10 10 10 q24.1 88098116 88098554 - 94356609 94357047 - 92596852 92597290 - 19123937 100271272 ABBA01021899;AL356128;AMYH02023542;NG_010874;NG_032580 RPL11_2_1080 pseudo HGNC:36137 INFERRED 2305895 RPL12P16 ribosomal protein L12 pseudogene 16 2 2 2 q33.2 197808367 197808994 + 204055415 204056042 + 203190692 203191319 + 19123937 100130447 ABBA01062602;AC011737;AMYH02005592;NG_010751 RPL12_4_315 pseudo HGNC:36926 INFERRED 2304471 RPL10AP13 ribosomal protein L10a pseudogene 13 18 18 18 q12 28962212 28962725 - 32153950 32154463 - 34573986 34574499 - 19123937 100271602 ABBA01022459;AC013290;AMYH02034547;NG_011250 RPL10A_8_1594 pseudo HGNC:36155 INFERRED 2304615 RPL12P19 ribosomal protein L12 pseudogene 19 2 2 2 p21 44336626 44337250 + 44497672 44498294 + 44270533 44271155 + 19123937;22118674 100129982 ABBA01075106;AC013717;AMYH02003707;NG_008233;NG_009586 RPL12_2_212 pseudo HGNC:36248 INFERRED 1352484 RPL12P2 ribosomal protein L12 pseudogene 2 6 6 6 p21.2 38614065 38614683 + 37058997 37059621 + 37091221 37091845 + 19123937;22118674 646875 ABBA01038270;AL160264;AL356983;AMYH02013562;NG_009503 RPL12_6_688;dJ441G21.1 pseudo HGNC:16070 INFERRED 2305878 RPL12P18 ribosomal protein L12 pseudogene 18 2 2 2 p11.2 84930426 84931027 + 85101651 85102252 + 84874527 84875128 + 19123937 729760 ABBA01075727;AC010087;AMYH02004158;NG_010841 RPL12_3_246 pseudo HGNC:36750 INFERRED 2305484 RPL12P17 ribosomal protein L12 pseudogene 17 2 2 2 q33.3 202683727 202684358 - 208921926 208922557 - 208057202 208057833 - 19123937 344471 ABBA01062697;AC093698;AMYH02005656;NG_010797 RPL12_2_319 pseudo HGNC:36263 INFERRED 2305306 RPL12P22 ribosomal protein L12 pseudogene 22 5 5 5 q35.2 169499629 169500100 - 173466754 173467225 - 174039751 174040222 - 19123937 100270922 ABBA01044015;AC113423;AMYH02012788;NG_010396 RPL12_4_640 pseudo HGNC:35762 INFERRED 2305307 RPL12P21 ribosomal protein L12 pseudogene 21 5 5 5 q31 134492549 134493087 - 138370796 138371334 - 139035107 139035645 - 19123937 100270921 ABBA01068652;AC011405;AMYH02012310;NG_010390 RPL12_3_619 pseudo HGNC:36845 INFERRED 2305304 RPL12P24 ribosomal protein L12 pseudogene 24 8 8 8 q23 102936460 102936936 - 106749508 106749984 - 105737280 105737756 - 19123937 100270924 ABBA01037676;AC090802;AMYH02018567;NG_010406 RPL12_6_940 pseudo HGNC:35952 INFERRED 2305308 RPL12P15 ribosomal protein L12 pseudogene 15 2 2 2 q14.3 115740647 115741282 - 122415992 122416636 - 121658416 121659060 - 19123937 100270920 ABBA01032246;AC018737;AMYH02004677;NG_010384 RPL12_1_272 pseudo HGNC:36619 INFERRED 2305303 RPL12P23 ribosomal protein L12 pseudogene 23 6 6 6 q27 171308010 171308455 + 170515014 170515459 + 170199790 170200235 + 19123937 100270925 ABBA01030848;AL596442;AMYH02015012;NG_010412 RPL12_7_777 pseudo HGNC:36408 INFERRED 2305305 RPL12P20 ribosomal protein L12 pseudogene 20 4 4 4 p13 41834424 41834902 + 41391132 41391610 + 41389115 41389593 + 19123937 100270923 ABBA01014264;AC095043;AMYH02009097;NG_010400 RPL12_5_471 pseudo HGNC:36968 INFERRED 2305302 RPL12P25 ribosomal protein L12 pseudogene 25 9 9 9 p24.3 394775 395390 + 477778 478396 + 477778 478396 + 19123937 100270926 ABBA01065456;AL161725;AMYH02019024;NG_010417;NG_016331 RPL12_9_954 pseudo HGNC:37008 INFERRED 2304900 RPL12P28 ribosomal protein L12 pseudogene 28 10 10 10 p 5834549 5834950 - 5904156 5904557 - 5862193 5862594 - 19123937 100271273 ABBA01034771;AL596094;AMYH02022050;NG_010880 RPL12_7_1019 pseudo HGNC:36818 INFERRED 2304899 RPL12P29 ribosomal protein L12 pseudogene 29 10 10 10 q23.1 80143813 80144403 - 86148876 86149475 - 84389120 84389719 - 19123937 100271274 ABBA01003755;AC074321;AMYH02023452;NG_010886 5094973 TNPO1 RPL12_8_1073 pseudo HGNC:35791 INFERRED 2304358 RPL12P14 ribosomal protein L12 pseudogene 14 1 1 1 p36.21 14602240 14602850 + 16119222 16119841 + 15792727 15793346 + 19123937;22118674 729500 ABBA01004695;AL450998;AMYH02000371;NG_010822 RPL12_1_13 pseudo HGNC:36495 INFERRED 2305525 RPL10P16 ribosomal protein L10 pseudogene 16 19 19 19 p13.2 12643750 12644487 - 12754034 12754771 - 12643220 12643957 - 19123937;21145461;21963094;21987572 284393 ABBA01029785;AC010422;AMYH02035550;NG_011204 RPL10_6_1628 pseudo HGNC:36882 INFERRED 2305548 RPL12P27 ribosomal protein L12 pseudogene 27 10 10 10 q24.1 92807769 92808285 - 99069287 99069803 - 97309530 97310046 - 19123937 644202 ABBA01021812;AL355490;AMYH02023606;NG_010551 1337329;1782038;1782040 D10S577;SHGC-151118;SHGC-152138 RPL12_9_1087 pseudo HGNC:36916 INFERRED 2305810 RPL12P33 ribosomal protein L12 pseudogene 33 12 12 12 q24.31 120988355 120988981 + 121354453 121355084 + 120916650 120917281 + 19123937 643550 ABBA01020142;AC078875;AMYH02027385;NG_011149 RPL12_13_1292 pseudo HGNC:35696 INFERRED 2304637 RPL12P35 ribosomal protein L12 pseudogene 35 15 15 15 q23 49557683 49558307 - 72671515 72672139 - 72379174 72379798 - 19123937;22118674 400389 ABBA01038728;AC009690;AMYH02030754;NG_009017;NG_009987 RPL12_13_1452 pseudo HGNC:35969 INFERRED 1343170 RPL12P3 ribosomal protein L12 pseudogene 3 20 20 20 q11.21 28613938 28614333 - 31860068 31860463 - 33272262 33272657 - 19123937 128862 ABBA01019237;AL121901;AMYH02036945;NG_000978 RPL12_17_1694;bA49G10.7 pseudo HGNC:16335 INFERRED 2304737 RPL12P37 ribosomal protein L12 pseudogene 37 17 17 17 q25.3 75577844 75578435 + 78950199 78950790 + 80976399 80976990 + 19123937 100129801 ABBA01032123;AC127496;AMYH02034117;NG_010016 RPL12_18_1579 pseudo HGNC:35565 INFERRED 2304344 RPL12P32 ribosomal protein L12 pseudogene 32 12 12 12 p11.21 11922976 11923601 + 32101180 32101805 + 31948246 31948871 + 19123937;22118674 100132795 ABBA01031730;AC023050;AMYH02026289;NG_010966 1710212;1772324 D12S1462;SHGC-83734 RPL12_12_1226 pseudo HGNC:36597 INFERRED 2304722 RPL12P36 ribosomal protein L12 pseudogene 36 16 16 16 q21 43360365 43360814 + 58859801 58860250 + 58825897 58826346 + 19123937 100271408 ABBA01025317;AC012183;AMYH02032135;NG_010255 RPL12_17_1486 pseudo HGNC:36598 INFERRED 2304725 RPL12P30 ribosomal protein L12 pseudogene 30 11 11 11 p13 30536016 30536644 + 30389607 30390235 + 30368060 30368688 + 19123937 100271405 ABBA01060937;AL353699;AMYH02024533;NG_010243 RPL12_11_1132 pseudo HGNC:35970 INFERRED 2304721 RPL12P39 ribosomal protein L12 pseudogene 39 18 18 18 q22.1 58459491 58459972 + 61739404 61739885 + 64072170 64072651 + 19123937 100271410 ABBA01056231;AC021607;AMYH02034889;NG_010266 1815822;1816068;1883636;1883638;1883640;1883642;1883644;1883646;1883648;1883650;1883652;1883654;1883656;1883658;2200480 ECD08951;ECD09074;REN12511;REN12512;REN12513;REN12514;REN12515;REN12516;REN12517;REN12518;REN12519;REN12520;REN12521;REN12522;stSG619644 RPL12_20_1611 pseudo HGNC:35976 INFERRED 2304724 RPL12P31 ribosomal protein L12 pseudogene 31 11 11 11 p13 36165911 36166529 - 36018698 36019316 - 35997148 35997766 - 19123937 100271406 ABBA01060852;AL136146;AMYH02024600;NG_010248 RPL12_11_1136 pseudo HGNC:37025 INFERRED 2304723 RPL12P34 ribosomal protein L12 pseudogene 34 13 13 13 q21.33 50131053 50131529 + 69228704 69229180 + 68654572 68655048 + 19123937 100271407 ABBA01050297;AL355611;AMYH02028210;NG_010251 RPL12_14_1319 pseudo HGNC:36168 INFERRED 2304726 RPL12P26 ribosomal protein L12 pseudogene 26 10 10 10 q25 112685739 112686336 - 118955636 118956243 - 117196125 117196732 - 19123937 100271404 ABBA01062947;AL731557;AMYH02023882;NG_010240;NG_028085 RPL12_10_1101 pseudo HGNC:36811 INFERRED 1351204 RPL12P4 ribosomal protein L12 pseudogene 4 20 20 20 q13.2 50395444 50396064 + 53691095 53691717 + 55074556 55075178 + 19123937 116149 ABBA01052876;AL121593;AMYH02037321;NG_000962 RPL12_23_1714;dJ800C24.1 pseudo HGNC:16587 INFERRED 2305469 RPL12P40 ribosomal protein L12 pseudogene 40 18 18 18 q12.2 32063576 32064054 + 35252658 35253136 + 37672695 37673173 + 19123937 646898 ABBA01022418;AC009899;AMYH02034573;NG_009756 RPL12_19_1596 pseudo HGNC:36439 INFERRED 7175180 RPL12P44 ribosomal protein L12 pseudogene 44 3 3 3 44917036 44917976 + 44979077 44980017 + 44937585 44938525 + 100419392 ABBA01024735;AC104165;AMYH02006652;NG_025693 1739043 D3S3243 pseudo HGNC:44603 INFERRED 2305775 RPL12P41 ribosomal protein L12 pseudogene 41 19 19 19 q13.32 43527557 43528188 + 46722592 46723223 + 46219335 46219966 + 19123937 100133139 ABBA01040964;AC006262;AMYH02036216;NG_010084 1650536;2112008 D19S1149;RH35798 RPL12_21_1660 pseudo HGNC:35999 INFERRED 1353924 RPL12P5 ribosomal protein L12 pseudogene 5 14 14 14 q12 11126088 11126479 + 31260304 31260695 + 30791098 30791489 + 19123937 319142 ABBA01061403;AL513133;AMYH02028942;NG_002518 1760195;2123635;2147129 D14S923;G35526;SHGC-132477 RPL12_15_1346 pseudo HGNC:19669 INFERRED 1602257 RPL12P6 ribosomal protein L12 pseudogene 6 14 14 14 q13.1 15073663 15074277 - 35209497 35210110 - 34740291 34740904 - 19123937;22118674 440176 ABBA01061483;AL355885;AMYH02028993;NG_009696 RPL12_12_1352 pseudo HGNC:23538 INFERRED 1344449 RPL12P7 ribosomal protein L12 pseudogene 7 14 14 14 q24.1 49218545 49219100 + 69159788 69160343 + 68693071 68693626 + 19123937 326275 ABBA01023689;AL121820;AMYH02029423;NG_002535 RPL12_16_1383 pseudo HGNC:19782 INFERRED 2305910 RPL12P38 ribosomal protein L12 pseudogene 38 17 17 17 q23.2 57611528 57612151 - 58511039 58511661 - 60433678 60434300 - 19123937 645688 ABBA01035408;AC037475;AK090983;AMYH02033722;NG_010298 Hs.631738 5038352 ECD09439 RPL12_14_1564 pseudo HGNC:36838 INFERRED 2303449 RPL12P9 ribosomal protein L12 pseudogene 9 21 21 21 q21.3 15683419 15684045 - 30499970 30500596 - 29127649 29128275 - 19123937 654376 ABBA01057256;AF129075;AMYH02037692;NG_009547 RPL12_18_1725 pseudo HGNC:23766 INFERRED 1347239 RPL12P8 ribosomal protein L12 pseudogene 8 10 10 10 q21.3 62908975 62909534 + 69634090 69634649 + 67874332 67874891 + 19123937 645161 ABBA01019551;AL133551;AMYH02023245;NG_006101 RPL12_10_1052;bA57G10.3 pseudo HGNC:23735 INFERRED 1353873 RPL13AP ribosomal protein L13a pseudogene 6 6 6 p21.3 31156374 31156891 + 29550285 29550802 + 29582508 29583025 + 19123937 387043 ABBA01038033;AL645936;AL662826;AMYH02013412;BX000688;BX927223;CR759766;CR759870;CR788300;NG_011172 RPL13A_5_675;dJ271M21.3 pseudo HGNC:13977 INFERRED 2305864 RPL13AP10 ribosomal protein L13a pseudogene 10 1 1 1 p13.2 112773285 112775196 - 114544055 114545965 - 114001433 114003343 - 19123937 100132906 ABBA01068459;AL591742;AMYH02001780;NG_010229 RPL13A_2_89 pseudo HGNC:36864 INFERRED 2304898 RPL13AP11 ribosomal protein L13a pseudogene 11 1 1 1 q32.1 178050805 178051367 + 204915735 204916297 + 204946607 204947169 + 19123937 100271276 ABBA01027437;AL391822;AMYH02002543;NG_010895;NG_029938 RPL13A_1_152 pseudo HGNC:36566 INFERRED 732066 RPL13 ribosomal protein L13 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2011] 16 16 16 q24.3 74690596 74693354 + 89613324 89633237 + 89560657 89566829 + 1580863;6480464 11101529;11790298;11997338;12477932;12777385;12962325;1301162;14567916;14702039;15189156;15231747;15489334;15635413;16196087;16751776;16786168;17203973;17267499;17361185;17461779;17474147;18274552;18457437;18781797;19034380;19596686;19738201;19805454;19928837;19946888;20020773;20434207;21044950;21081666;21139048;21145461;21150319;21182205;21319273;21890473;21900206;21906983;21963094;21987572;22113938;22145905;22178446;22354994;22505724;22623428;22779921;22863883;22939629;23000965;23084401;23125841;23166591;23246001;23398456;23443559;23455922;23463506;23874603;24244333;24583282;24816145;7821789;8722009;9114010;9582194 6137 A8K4C8;H3BTH3;H3BUK8;J3KS98;J3QSB4;P26373 AB007172;AB062392;ABBA01014145;AC092123;AK025405;AK026501;AK095954;AK127579;AK130963;AK130964;AK290893;AK294655;AK297198;AK308545;AMYH02032671;BC000851;BC004954;BC006179;BC007345;BC007563;BC007805;BC010994;BC013078;BC014167;BC020804;BC027463;BC063378;BC066320;BC093063;BC106058;BG706207;CH471184;D28432;DQ575437;NM_000977;NM_001243130;NM_001243131;NM_033251;X64707 AAH04954;AAH07345;AAH07563;AAH07805;AAH10994;AAH13078;AAH14167;AAH20804;AAH27463;AAH63378;AAH66320;AAH93063;AAI06059;ABM82385;ABM85562;BAA05798;BAA25832;BAB93479;BAF83582;BAG54527;BAG57828;BAG59685;CAA45963;EAW66724;EAW66725;NP_000968;NP_001230059;NP_001230060;NP_150254;P26373 Hs.410817 1662146;1687600;1730956;2121740;2168941;2168943;5016965;7184755 D16S444E;HUM00KMB07;RH1656;RH65713;SHGC-11987;SHGC-2485;SHGC-60730 BBC1;D16S444E;D16S44E;FLJ27453;FLJ27454;FLJ38635;L13;MGC117342;MGC71373 60S ribosomal protein L13;OK/SW-cl.46;OTTHUMP00000165255;OTTHUMP00000165256;breast basic conserved protein 1 APPROVED protein-coding ENSG00000167526 HGNC:10303 06428 113703 REVIEWED 1351312 RPL13A ribosomal protein L13a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The encoded protein also plays a role in the repression of inflammatory genes as a component of the IFN-gamma-activated inhibitor of translation (GAIT) complex. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 19 19 19 q13.3 46860188 46864887 + 49990811 49995565 + 49487554 49492308 + 1580863;6480464 10095121;10580157;11790298;11875025;12477932;12588972;12777385;1282492;12962325;14567916;14702039;15189156;15479637;15489334;15635413;15840729;16169070;17207965;17218275;17267499;17921318;18781797;18809582;18995835;19738201;19913121;19946888;20020773;20085233;20139978;20195357;20628086;20716364;20972266;21114473;21139048;21145461;21182205;21890473;21906983;21963094;21987572;21988832;22178446;22505724;22533734;22623428;22771119;23000965;23084401;23246001;23398456;23443559;23463506;23689135;24250222;24332808;24457600;24657165;24816145;25015289;8125298;8722009;8764399;9582194 23521 M0QYS1;M0QZU1;P40429;Q8J015 AB028893;AB082924;ABBA01032924;AC010619;AK056837;AK130605;AK222747;AK291120;AK297859;AMYH02036317;AMYH02036318;BC000514;BC000847;BC001675;BC001836;BC004900;BC013230;BC032107;BC062537;BC065236;BC070223;BC071929;BC105605;BG536330;BQ069994;CH471177;NM_001270491;NM_012423;NR_073024;X56932 AAH00514;AAH01675;AAH01836;AAH04900;AAH62537;AAH65236;AAH70223;AAH71929;AAI05606;ACE86461;ACE87142;ADQ32192;BAA88214;BAC16800;BAD96467;BAF83809;BAG60190;CAA40254;EAW52495;EAW52496;NP_001257420;NP_036555;P40429 Hs.523185 1689624;5014922;5113212;5119473 D19S1002;D19S1021;RH27395;RH38886 L13A;TSTA1 23 kD highly basic protein;23 kDa highly basic protein;60S ribosomal protein L13a;OTTHUMP00000165841;tissue specific transplantation antigen 1 APPROVED protein-coding ENSG00000142541 HGNC:10304 11775 REVIEWED 2304897 RPL13AP12 ribosomal protein L13a pseudogene 12 2 2 2 q33-q34 197137034 197137633 + 203385116 203385715 + 202520393 202520992 + 19123937 100271277 ABBA01062573;AC073410;AMYH02005572;NG_010898 RPL13A_3_312 pseudo HGNC:35673 INFERRED 2304896 RPL13AP14 ribosomal protein L13a pseudogene 14 5 5 5 q14.3 78947232 78947833 - 83042207 83042808 - 83746388 83746989 - 19123937 100271278 ABBA01062084;AC020899;AMYH02011718;NG_010902 RPL13A_3_590 pseudo HGNC:36360 INFERRED 2304895 RPL13AP15 ribosomal protein L13a pseudogene 15 6 6 6 q22 120334578 120335156 - 119590298 119590876 - 119269133 119269711 - 19123937 100271279 ABBA01026018;AL022722;AMYH02014380;NG_010909 RPL13A_4_746 pseudo HGNC:36883 INFERRED 2305335 RPL12P42 ribosomal protein L12 pseudogene 42 19 19 19 p13.2 13159123 13160086 - 13268724 13269688 - 13157910 13158874 - 19123937 100129394 ABBA01029753;AC011446;AMYH02035569;NG_010590 RPL12_15_1630 pseudo HGNC:36165 INFERRED 1602623 RPL13AP17 ribosomal protein L13a pseudogene 17 INTERACTS WITH paraoxon 7 7 7 q21.11 72676863 72689070 + 77976559 77988775 + 78347242 78359458 + 6480464 12477932;15479637;19123937;20966902 399670 ABBA01058026;AC006043;AMYH02016120;AMYH02016121;BC027852;CH236949;CH471091;NG_011487;NR_003680 EAW77026 Hs.568045 1710776 SHGC-84053 RPL13A_6_816 pseudo ENSG00000231322 HGNC:36167 14588 VALIDATED 2305863 RPL13AP19 ribosomal protein L13a pseudogene 19 10 10 10 q11.23 43538768 43545674 - 49953247 49960153 - 48745202 48752108 - 19123937 100132924 ABBA01047227;AC068898;AMYH02022981;NG_010319 RPL13A_6_1040 pseudo HGNC:35855 INFERRED 1345955 RPL13AP2 ribosomal protein L13a pseudogene 2 14 14 14 q21.3 27530281 27530853 - 47669752 47670324 - 47200549 47201121 - 19123937 326278 ABBA01018085;AL157792;AMYH02029124;NG_002538 1751425 SHGC-105251 RPL13A_12_1359 pseudo HGNC:19675 INFERRED 2304847 RPL13AP21 ribosomal protein L13a pseudogene 21 12 12 12 q12 45195152 45195811 - 46397809 46398468 - 46004026 46004685 - 19123937 100129799 ABBA01031453;AC084878;AMYH02026403;NG_010004 RPL13A_10_1231 pseudo HGNC:35654 INFERRED 2305920 RPL13AP22 ribosomal protein L13a pseudogene 22 12 12 12 p11.21 11225779 11227674 - 31404847 31406741 - 31251913 31253807 - 19123937 441632 ABBA01031758;AC024940;AMYH02026271;NG_010172 RPL13A_9_1223 pseudo HGNC:35825 INFERRED 2305919 RPL13AP23 ribosomal protein L13a pseudogene 23 12 12 12 q13.3 57726050 57726635 + 58068448 58069033 + 57674665 57675250 + 19123937 441641 ABBA01026694;AC025165;AMYH02026591;NG_010224 RPL13A_10_1240 pseudo HGNC:36498 INFERRED 2304470 RPL13AP24 ribosomal protein L13a pseudogene 24 12 12 12 p13.3-p13.2 4794843 4795442 - 3180712 3181311 - 3071546 3072145 - 19123937 100271603 ABBA01048788;AC125807;AMYH02025895;NG_011259 RPL13A_8_1193 pseudo HGNC:36209 INFERRED 2304766 RPL12P43 ribosomal protein L12 pseudogene 43 X X X q24 117734823 117735321 + 117280026 117280524 + 118146063 118146561 + 19123937 100271387 ABBA01036839;AC003012;AMYH02040313;NG_010137 1787264 SHGC-144053 RPL12_24_1805 pseudo HGNC:35840 INFERRED 2304493 RPL13AP26 ribosomal protein L13a pseudogene 26 22 22 22 q12.2 14849956 14851394 - 31049864 31051302 - 30653877 30655315 - 19123937 729212 ABBA01055304;AC003072;AMYH02038219;NG_010641 RPL13A_13_1745 pseudo HGNC:35492 INFERRED 2305229 RPL13AP13 ribosomal protein L13a pseudogene 13 5 5 5 q11.2 49455951 49456566 + 52502393 52503008 + 53206563 53207178 + 19123937 402214 ABBA01015718;AC026477;AMYH02011291;NG_010205 RPL13A_4_562 pseudo HGNC:36541 INFERRED 2305232 RPL13AP20 ribosomal protein L13a pseudogene 20 INTERACTS WITH 17beta-estradiol; cadmium atom 12 12 12 p13.1 18177243 18177902 + 13028411 13029070 + 12875477 12876136 + 6480464 11181995;19123937 387841 ABBA01067856;AC007688;AI609875;AMYH02026067;CH471094;NR_003932 EAW96286;EAW96287 Hs.631728 RPL13A_9_1211 pseudo ENSG00000234498 HGNC:35709 PROVISIONAL 2303485 RPL13AP3 ribosomal protein L13a pseudogene 3 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN extracellular vesicular exosome; nucleus; INTERACTS WITH (R)-pantothenic acid; 17beta-estradiol 14 14 14 q22.3 36282304 36283776 + 56232963 56234435 + 55766245 55767717 + 6480464 12477932;19123937;21906983;23648065;24816145 645683 Q6NVV1 ABBA01018217;AL355773;AMYH02029243;BC067891;NR_004844 Q6NVV1 Hs.663461 5119473 D19S1002 MGC87657;RPL13A_11_1370 pseudo ENSG00000177350 HGNC:23539 PROVISIONAL 1343517 RPL13AP5 ribosomal protein L13a pseudogene 5 INTERACTS WITH 17beta-estradiol 10 10 10 q24.1 92252400 92253057 + 98510023 98510680 + 96750266 96750923 + 6480464 19123937 728658 ABBA01021828;AL358235;AMYH02023595;CD173238;NR_026712 Hs.645344 5119473 D19S1002 RPL13A_8_1086;bA196N24.2 pseudo ENSG00000236552 HGNC:23736 VALIDATED 1348012 RPL13AP6 ribosomal protein L13a pseudogene 6 INTERACTS WITH 17beta-estradiol; cadmium atom 10 10 10 q25.2 106427962 106428614 - 112696361 112697013 - 110936603 110937255 - 6480464 10737800;19123937 644511 ABBA01063019;AL158163;AMYH02023802;BE830053;NG_028922;NR_026715 Hs.632083 RPL13A_7_1096;bA348N5.5 pseudo ENSG00000234118 HGNC:23737 VALIDATED 2305681 RPL13AP8 ribosomal protein L13a pseudogene 8 1 1 1 q32.1 180332477 180333614 + 207080940 207082080 + 206907595 206908735 + 19123937 727831 ABBA01010195;AC098935;AMYH02002558;NG_009083 RPL13A_2_157 pseudo HGNC:36966 INFERRED 2305055 RPL13AP9 ribosomal protein L13a pseudogene 9 1 1 1 p31.3 61395993 61396569 - 63106788 63107364 - 62641117 62641693 - 19123937 100271137 ABBA01074593;AL138847;AMYH02001143;NG_010176;NG_033073 RPL13A_1_58 pseudo HGNC:36341 INFERRED 2305776 RPL13P10 ribosomal protein L13 pseudogene 10 5 5 5 q35.3 176119855 176120380 + 180492155 180492680 + 181065155 181065680 + 19123937 100133108 ABBA01010090;AC008620;AMYH02012915;NG_011268 RPL13_2_647 pseudo HGNC:35943 INFERRED 1344645 RPL13P ribosomal protein L13 pseudogene 6 6 6 p21 30435310 30435926 + 28829177 28829793 + 28861400 28862016 + 19123937 387044 ABBA01038028;AL662890;AL669978;AL844539;AMYH02013403;BX119924;BX908720;CR753651;CR759954;CR936879;NG_009510 1785952 SHGC-144844 BBC1p;RPL13_3_673;dJ111M5.1 pseudo HGNC:13978 INFERRED 2304384 RPL13P11 ribosomal protein L13 pseudogene 11 8 8 8 q13.3 67416172 67416735 - 71418490 71419053 - 70506255 70506818 - 19123937 100130225 ABBA01041940;AC022730;AMYH02018175;NG_010921 RPL13_3_914 pseudo HGNC:35805 INFERRED 2304640 RPL13P12 ribosomal protein L13 pseudogene 12 17 17 17 p11.2 18226152 18226860 - 17286669 17287377 - 17383355 17384063 - 19123937;21145461;21987572;22145905;23443559;24332808 388344 ABBA01009760;AC073621;AMYH02033089;NG_007541 RPL13_4_1521 pseudo HGNC:35701 INFERRED 2304848 RPL13P13 ribosomal protein L13 pseudogene 13 19 19 19 q13.43 53772223 53773007 - 56728537 56729321 - 56217168 56217952 - 19123937 100129796 ABBA01020837;AC011506;AMYH02036490;NG_009982 RPL13_5_1672 pseudo HGNC:36832 INFERRED 2304348 RPL13P14 ribosomal protein L13 pseudogene 14 20 20 20 q13.12 42205877 42206430 - 45492184 45492737 - 46863545 46864098 - 19123937 100130374 ABBA01052687;AL354766;AMYH02037162;NG_010376 RPL13_6_1708 pseudo HGNC:36387 INFERRED 1351579 RPL13P2 ribosomal protein L13 pseudogene 2 20 20 20 q13.12 41439574 41440292 + 44728114 44728832 + 46099475 46100193 + 19123937;19573080;19773279 128500 ABBA01052674;AL035662;AMYH02037156;NG_000966 7184755 D16S444E RPL13P3;RPL13_7_1707;dJ599F21.2 pseudo HGNC:16342 INFERRED 2303446 RPL13P4 ribosomal protein L13 pseudogene 4 15 15 15 q24.2 52607057 52607697 + 75680577 75681217 + 75388236 75388876 + 19123937 654383 ABBA01060522;AC105137;AMYH02030814;NG_009554 HsT16723;RPL13_6_1454 pseudo HGNC:31027 INFERRED 1350057 RPL13AP7 ribosomal protein L13a pseudogene 7 21 21 21 q21.2 11917769 11918906 + 26734109 26735238 + 25361795 25362924 + 19123937 284821 ABBA01057208;AMYH02037642;AP001340;KF457125;NG_009777 1689624;1770692 D21S1422;RH38886 RPL13A_12_1722 pseudo HGNC:23755 INFERRED 2301125 RPL13P5 ribosomal protein L13 pseudogene 5 12 12 12 p13.31 8610424 8611057 + 6993145 6993778 + 6883981 6884614 + 12477932;19123937;9074930 283345 ABBA01017662;AMYH02025957;AY672103;NR_002803;U47924;U72513 Hs.720698 2144775 RH71256 RPL13-2;RPL13L;RPL13_4_1199;RRPL13L pseudo ENSG00000240370 HGNC:30363 VALIDATED 1352859 RPL13P6 ribosomal protein L13 pseudogene 6 14 14 14 q32.32 83561922 83562547 + 103507806 103508431 + 103041469 103042094 + 19123937 100129176 ABBA01048443;AL133455;AMYH02029914;NG_010805 RPL13AP4;RPL13_5_1409 pseudo HGNC:19809 INFERRED 2305300 RPL13P8 ribosomal protein L13 pseudogene 8 3 3 3 q13.13 106658830 106659331 - 108262221 108262722 - 108543374 108543875 - 19123937 100270928 ABBA01061703;AC069499;AMYH02007398;NG_010428 RPL13_2_391 pseudo HGNC:35513 INFERRED 2304367 RPL13P7 ribosomal protein L13 pseudogene 7 1 1 1 q25.2 149310966 149311612 - 176200320 176200966 - 176231184 176231830 - 19123937 391140 ABBA01027863;AL359265;AMYH02002196;NG_011178 RPL13_1_131 pseudo HGNC:35510 INFERRED 2305301 RPL13P9 ribosomal protein L13 pseudogene 9 5 5 5 q13-q14 78402095 78402627 + 82497048 82497580 + 83201229 83201761 + 19123937 100270927 ABBA01062082;AC094085;AMYH02011710;NG_010421 RPL13_1_589 pseudo HGNC:36587 INFERRED 1346661 RPL14P1 ribosomal protein L14 pseudogene 1 INTERACTS WITH dioxygen 12 12 12 q14.2 63027533 63028249 + 63359082 63359804 + 62965302 62966024 + 6480464 19123937;21987572 144581 ABBA01026625;AC078814;AMYH02026644;NG_009597 1743187;2160057 GDB:293939;RH78270 RPL14L;RPL14_1_1246;bcm1298 pseudo HGNC:31384 INFERRED 2304894 RPL14P4 ribosomal protein L14 pseudogene 4 12 12 12 q22 95190805 95191493 + 95519511 95520199 + 95125735 95126423 + 19123937 100271282 ABBA01053343;AC126615;AMYH02026970;NG_010923 RPL14_2_1267 pseudo HGNC:35663 INFERRED 2305299 RPL14P2 ribosomal protein L14 pseudogene 2 3 3 3 p14.2 62782853 62783469 - 62764847 62765463 - 62779172 62779788 - 19123937 100270930 ABBA01024328;AC012519;AMYH02006938;NG_010436 2160057 RH78270 RPL14_1_377 pseudo HGNC:35962 INFERRED 733020 RPL14 ribosomal protein L14 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 3 3 3 p22-p21.2 40441631 40446697 + 40498783 40503863 + 40457292 40462372 + 1580863;6480464 11369516;11401437;11790298;11875025;12477932;12777385;12962325;14567916;15189156;15303970;15489334;15635413;15717329;16196087;17081983;17620599;18029348;18697920;19738201;19946888;20020773;21139048;21145461;21182205;21319273;21726808;21890473;21900206;21906983;21942715;21963094;21987572;21988832;22178446;22354994;22505724;22586326;22623428;22863883;22939629;23000965;23125841;23166591;23246001;23398456;23443559;23473034;24140708;24250222;24457600;24657165;24816145;25015289;8125298;8244780;8325628;8549859;8722009;8889548;9417904;9480843 9045 E7EPB3;F8WDZ7;P50914 AB046407;AB061822;ABBA01024791;AC104186;AK222750;AK223111;AK290674;AK292045;AMYH02006596;BC000606;BC005134;BC009294;BC016379;BC019651;BC022805;BC029036;BC071913;BG564298;BG776586;BU686905;CD298951;CH471055;D87735;DQ118667;L10376;NM_001034996;NM_003973;U16738;U92982 AAC16021;AAH00606;AAH05134;AAH09294;AAH16379;AAH19651;AAH22805;AAH29036;AAH71913;AAZ38460;ABM82847;ABM86031;BAA13443;BAB21253;BAB79460;BAD96470;BAD96831;BAF83363;BAF84734;EAW64606;EAW64607;EAW64608;EAW64609;NP_001030168;NP_003964;P50914 Hs.446522 1679640;1743187;2160057;5016602;5016969;5119176 D0S17713;G64294;GDB:293939;RH67861;RH71334;RH78270 CAG-ISL-7;CTG-B33;L14;MGC88594;RL14;hRL14 60S ribosomal protein L14;OTTHUMP00000209120;OTTHUMP00000209139;OTTHUMP00000209259 APPROVED protein-coding ENSG00000188846 HGNC:10305 10617 VALIDATED 2305102 RPL13AP16 ribosomal protein L13a pseudogene 16 7 7 7 q22.3 100264972 100265607 + 105459938 105460573 + 105819492 105820127 + 19123937 100129553 ABBA01057936;AC005099;AMYH02016487;CH236947;NG_010071 RPL13A_7_832 pseudo HGNC:35722 INFERRED 2305119 RPL13AP18 ribosomal protein L13a pseudogene 18 8 8 8 q21.13 77182166 77185435 - 81177740 81181009 - 80265505 80268774 - 19123937 402342 ABBA01004066;AC104212;AMYH02018300;AMYH02018301;NG_010866 RPL13A_5_919 pseudo HGNC:36593 INFERRED 2305122 RPL13AP25 ribosomal protein L13a pseudogene 25 13 13 13 q14.3 36001385 36002044 - 55014813 55015472 - 54440678 54441337 - 19123937 100287887 ABBA01037048;AL356120;AMYH02028066;NG_012730 FWP004;RPL13A_11_1314;S863-4 pseudo HGNC:36981 INFERRED 2304749 RPL15P11 ribosomal protein L15 pseudogene 11 7 7 7 q33 130082245 130082859 + 135344786 135345400 + 135660038 135660652 + 12690205;15576338;19123937 402694 ABBA01001123;AC093107;AMYH02016822;CH236950;NG_009995 EAL24059 RPL15_5_851 pseudo HGNC:36093 INFERRED 2305093 RPL15P12 ribosomal protein L15 pseudogene 12 8 8 8 q24.21 127054829 127055520 + 130876724 130877415 + 129864478 129865169 + 19123937 100131958 ABBA01037971;AC022973;AMYH02018779;NG_010613 RPL15_6_949 pseudo HGNC:35529 INFERRED 2305564 RPL15P13 ribosomal protein L15 pseudogene 13 10 10 10 q25.3 110372247 110390301 + 116643057 116661103 + 114883298 114901344 + 19123937 100131338 ABBA01062970;AL137025;AMYH02023857;NG_010020 1752769 SHGC-106583 RPL15_8_1099 pseudo HGNC:35915 INFERRED 2304893 RPL15P14 ribosomal protein L15 pseudogene 14 10 10 10 q22.1 67232947 67233576 + 73949705 73950334 + 72189947 72190576 + 19123937 100271283 ABBA01020362;AL607035;AMYH02023306;NG_010927;NG_031890 RPL15_7_1062 pseudo HGNC:36487 INFERRED 2305788 RPL15P15 ribosomal protein L15 pseudogene 15 11 11 11 q23.3 112976255 112976866 - 115820908 115821519 - 115950190 115950801 - 19123937 100128347 ABBA01039760;AMYH02025613;AP000797;NG_010477 RPL15_4_1179 pseudo HGNC:36780 INFERRED 2304355 RPL15P16 ribosomal protein L15 pseudogene 16 11 11 11 q13.4 69956119 69956733 + 72651543 72652157 + 72940498 72941112 + 19123937 100127949 ABBA01017530;AMYH02025081;AP002381;NG_011061 RPL15_9_1154 pseudo HGNC:36067 INFERRED 2305610 RPL15P17 ribosomal protein L15 pseudogene 17 12 12 12 p13.31 10149488 10150136 + 8613180 8613828 + 8460584 8461232 + 6480464 19123937 728002 ABBA01012242;AC092865;AC247052;NG_011003 RPL15_10_1204 pseudo HGNC:36852 INFERRED 2305608 RPL15P18 ribosomal protein L15 pseudogene 18 13 13 13 q32.3 81647257 81647960 - 100802694 100803397 - 100150440 100151143 - 6480464 19123937 728088 ABBA01027093;AL356575;AMYH02028606;NG_008768;NG_010118 RPL15_5_1331 pseudo HGNC:36515 INFERRED 1354056 RPL15P2 ribosomal protein L15 pseudogene 2 14 14 14 q32.13 75321882 75323956 - 95265756 95267856 - 94799419 94801519 - 19123937;23192594 326279 ABBA01030410;AL121612;AMYH02029786;NG_002539 RPL15_6_1404 pseudo HGNC:19803 INFERRED 2305543 RPL15P20 ribosomal protein L15 pseudogene 20 16 16 16 p13.11 15706025 15706657 - 16025554 16026186 - 15931697 15932329 - 19123937 646672 ABBA01048909;AC130651;AC243757;NG_010064 RPL15_7_1476 pseudo HGNC:36130 INFERRED 2304346 RPL15P21 ribosomal protein L15 pseudogene 21 17 17 17 p12 10794703 10795634 - 10763848 10764779 - 10860531 10861462 - 19123937 100132722 ABBA01054982;AC015908;AMYH02032971;NG_010592 1697754 RH102400 RPL15_8_1514 pseudo HGNC:36190 INFERRED 3277915 RPL14P5 ribosomal protein L14 pseudogene 5 X X X;Y p22.33;Yp11.32 122993 123373 + 166578 166958 - 1009720 1010100 - 442442 ABBA01055771;AL672277;AMYH02038652;CH471225;NG_009084 EAW66814 2127311 DXYS137 pseudo HGNC:37720 INFERRED 2305831 RPL15P22 ribosomal protein L15 pseudogene 22 22 22 22 q12.1 11084887 11085623 - 27282808 27283544 - 26886845 26887581 - 6480464 19123937 100130624 ABBA01055207;AMYH02038170;NG_010342;Z97353 1664533;1720969 G59314;WI-22652 RPL15_10_1742 pseudo HGNC:36933 INFERRED 1346139 RPL15P3 ribosomal protein L15 pseudogene 3 6 6 6 p24.1 13742359 13743060 + 12514306 12515007 + 12514074 12514775 + 6480464 19123937;21987572;23251661 653232 ABBA01022115;AL355137;AMYH02013117;NG_008796 RPL15_3_658;bA511S14.1 pseudo HGNC:21538 INFERRED 1349869 RPL15P1 ribosomal protein L15 pseudogene 1 20 20 20 p11.23 18145262 18145954 - 18070703 18071395 - 18090059 18090751 - 19123937 128756 ABBA01054042;AL160411;AMYH02036775;NG_000975 RPL15_9_1687;dJ726N1.3 pseudo HGNC:16583 INFERRED 1348057 RPL15P4 ribosomal protein L15 pseudogene 4 6 6 6 p21.33 33094091 33094736 + 31495853 31496498 + 31528076 31528721 + 19123937 100129921 ABBA01038080;AL662847;AL663061;AMYH02013452;BX001040;BX682535;BX927320;CR753820;CR753864;CT009531;NG_009512 1706756 SHGC-80845 Em:AC006046.2;RPL15_4_680 pseudo HGNC:21663 INFERRED 2304353 RPL15P5 ribosomal protein L15 pseudogene 5 2 2 2 q22.1 132747922 132748835 + 139036108 139037021 + 138278538 138279451 + 19123937 100127993 ABBA01028128;AC069394;AC097523;AMYH02004873;NG_011291 1722367;1773604;5094400 D2S2019;G54775;G60254 RPL15_1_277 pseudo HGNC:35746 INFERRED 2305298 RPL15P6 ribosomal protein L15 pseudogene 6 3 3 3 q25.32 156417654 156418266 - 157993598 157994210 - 158275809 158276421 - 19123937 100270933 ABBA01058822;AC074276;AMYH02007994;NG_010448 RPL15_1_425 pseudo HGNC:36185 INFERRED 2305345 RPL15P7 ribosomal protein L15 pseudogene 7 4 4 4 p12 48157579 48158544 + 47708339 47709304 + 47706322 47707287 + 6480464 19123937 728576 ABBA01014337;AC092597;AMYH02009161;NG_009957;NG_032679 RPL15_2_475 pseudo HGNC:36808 INFERRED 2305297 RPL15P8 ribosomal protein L15 pseudogene 8 4 4 4 q28.2 126371258 126371850 - 128990175 128990767 - 128069020 128069612 - 19123937 100270934 ABBA01044809;AC099340;AMYH02010076;NG_010451 RPL15_2_518 pseudo HGNC:36390 INFERRED 2305296 RPL15P9 ribosomal protein L15 pseudogene 9 6 6 6 q23.2 132848963 132849554 - 132101810 132102488 - 131780670 131781348 - 19123937;9847074 100270935 ABBA01025887;AC005587;AMYH02014495;NG_010454 RPL15P10;RPL15_3_755 pseudo HGNC:36466 INFERRED 7205201 RPL17-C18orf32 RPL17-C18orf32 readthrough This locus represents naturally occurring read-through transcription between the neighboring RPL17 (ribosomal protein L17) and C18orf32 (chromosome 18 open reading frame 32) genes. Alternative splicing results in multiple transcript variants. The encoded isoforms share sequence identity with the RPL17 protein, but they include frameshifted C-terminal regions derived from the downstream gene exons. [provided by RefSeq, Dec 2010] 18 18 q 47007548 47018935 - 49481178 49492565 - 6480464 20639865;20967262;21890473;21906983;21963094;22505724;23000965 100526842 P18621 ABBA01018653;AC100778;AMYH02034695;BI461805;BX393840;NM_001199355;NM_001199356 NP_001186284;NP_001186285 Hs.374588;Hs.603040 1660968;1730777;1852898 D18S103E;RH70037;SGC30182 protein-coding ENSG00000177576 HGNC:44661 VALIDATED 736821 RPL15 ribosomal protein L15 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15E family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Although this gene has been referred to as RPL10, its official symbol is RPL15. This gene has been shown to be overexpressed in some esophageal tumors compared to normal matched tissues. Alternate splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Nov 2011] 3 3 3 p24.2 23894829 23898524 + 23958295 23965187 + 23916804 23923696 + 6480464;8699517;7240710;8554872 11223259;11790298;11875025;12477932;12777385;12962325;14567916;15064750;15161933;15189156;15303970;1538749;15489334;15635413;16169070;16344560;16608517;17361185;17620599;18781797;19738201;19834535;20020773;20301769;20639865;20972266;21139048;21145461;21252943;21509594;21612406;21890473;21906983;21963094;21987572;21988832;22053931;22178446;22505724;22586326;22779921;22863883;22939629;23000965;23084401;23151878;23246001;23398456;23443559;23812780;24332808;24337577;24390425;24457600;25015289;8722009;9110174;9582194 6138 E7ENU7;E7EQV9;E7ERA2;E7EX53;P61313 AB007173;AB061823;ABBA01025038;ABBA01025039;AC124914;AF279903;AF283772;AK098795;AK129815;AK290694;AK292000;AK293709;AK297091;AMYH02006404;AX888057;AX888058;AY347528;BC014837;BC068198;BC070328;BC071672;BC081565;BE893727;BT019672;BU178524;CH471055;DA037869;DA205054;DB461802;DC351786;L25899;NG_033850;NM_001253379;NM_001253380;NM_001253382;NM_001253383;NM_001253384;NM_002948 AAA36583;AAG15591;AAG44837;AAH14837;AAH68198;AAH70328;AAH71672;AAH81565;AAQ24859;AAV38478;BAA25833;BAB79461;BAF83383;BAF84689;BAG57142;BAG59606;CAE93982;CAE93983;EAW64337;EAW64338;EAW64339;NP_001240308;NP_001240309;NP_001240311;NP_001240312;NP_001240313;NP_002939;P61313 Hs.381219;Hs.592455 1735274;1772234;2183061;5015503;5016478;5020881;5022463;5022578;5022582;5022651;5037552;5113964;5113966;5122985 D11S2921;D1S1423;D22S1016E;D3S1673;D3S2926E;D3S3953;D8S2279;G19699;GDB:434012;L17709;RH15656;RH66851;SHGC-76774;SHGC-76808 DBA12;EC45;FLJ26304;L15;MGC88603;RPL10;RPLY10;RPYL10 60S ribosomal protein L15;OTTHUMP00000161052;OTTHUMP00000208329;OTTHUMP00000208330;OTTHUMP00000208331;OTTHUMP00000208333;OTTHUMP00000208399;OTTHUMP00000208401;OTTHUMP00000208402 APPROVED protein-coding ENSG00000174748 HGNC:10306 16043 604174;615550 REVIEWED 1342969 RPL17P1 ribosomal protein L17 pseudogene 1 20 20 20 p11.2 20307939 20308474 - 20233947 20234482 - 20253303 20253838 - 19123937 140748 ABBA01054080;AL049648;AMYH02036801;NG_000991 1711252 SHGC-84987 RPL17_18_1690;dJ1178H5.1 pseudo HGNC:16559 INFERRED 2305295 RPL17P10 ribosomal protein L17 pseudogene 10 2 2 2 q31.3 195721846 195722305 - 201967221 201967680 - 201102498 201102957 - 19123937 100270936 ABBA01062535;AC007272;AMYH02005547;NG_010458 RPL17_2_309 pseudo HGNC:35838 INFERRED 1347180 RPL17 ribosomal protein L17 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream C18orf32 (chromosome 18 open reading frame 32) gene. [provided by RefSeq, Dec 2010] 18 18 18 q21 43870209 43874262 - 47014851 47018935 - 49488481 49492565 - 1580863;6480464 11790298;11875025;12477932;12761501;12777385;12962325;15189156;15489334;15635413;16169070;16196087;17267499;17361185;18457437;19596686;19738201;20020773;20639865;21145461;21182205;21890473;21900206;21906983;21907836;21963094;21988832;22145905;22174317;22178446;22505724;22623428;22810585;22863883;22939629;23000965;23084401;23125841;23166591;23184937;23398456;23443559;23463506;2402465;24457600;24583282;24654937;24816145;8722009;8889549;9582194 6139 J3KRB3;J3KRX5;J3KSJ0;J3QLC8;J3QQT2;J3QS96;P18621 AA148652;AB007174;AB061824;ABBA01018653;AC100778;AK304659;AK311720;AK311828;AMYH02034695;BC000502;BC017831;BC066323;BC066324;BC106031;BF670086;BG497914;BG758380;BG827384;BI086293;BQ877039;BQ882430;CB178432;CD386294;CD387752;CH236953;CH471096;NM_000985;NM_001035006;NM_001199340;NM_001199341;NM_001199342;NM_001199343;NM_001199344;NM_001199345;X53777 AAH00502;AAH17831;AAH66323;AAH66324;AAI06032;ABM83128;ABM86324;BAA25834;BAB79462;BAG34770;BAG65434;CAA37793;EAW62940;EAW62941;EAW62942;EAW62943;EAW62944;EAW62945;NP_000976;NP_001030178;NP_001186269;NP_001186270;NP_001186271;NP_001186272;NP_001186273;NP_001186274;P18621 Hs.293653;Hs.374588;Hs.485081 2126975;5123188 D17S1714;D18S1247 FLJ18762;FLJ92089;L17;MGC117162;PD-1;rpL23 60S ribosomal protein L17;60S ribosomal protein L23;gene encoding putative NFkB activating protein APPROVED protein-coding ENSG00000265681 HGNC:10307 04715 603661 REVIEWED 2305294 RPL17P11 ribosomal protein L17 pseudogene 11 2 2 2 q37 228350806 228351330 - 234630138 234630756 - 233721492 233722110 - 19123937 100270937 ABBA01001949;AC114812;AMYH02006011;NG_002601 1800216;1950560;1950562;1950564;1950566;1950568;1950570;1950572;2201338 ECD00965;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;stSG620114 RPL17_3_336 pseudo HGNC:36509 VALIDATED 2305293 RPL17P12 ribosomal protein L17 pseudogene 12 2 2 2 q22.3 140664919 140665444 + 146951864 146952389 + 146194296 146194821 + 19123937 100270938 ABBA01028036;AC009476;AMYH02004931;NG_010467 1717495 RH122253 RPL17_6_281 pseudo HGNC:36779 INFERRED 2305292 RPL17P13 ribosomal protein L17 pseudogene 13 2 2 2 q23.2 143910357 143910887 + 150296411 150296941 + 149439897 149440427 + 19123937 100270939 ABBA01004742;AC007394;AMYH02004962;NG_010475 RPL17_7_285 pseudo HGNC:36378 INFERRED 2305871 RPL17P15 ribosomal protein L17 pseudogene 15 2 2 2 q14.2 113781886 113783487 + 120456165 120457766 + 119698589 119700190 + 19123937 100128117 ABBA01045923;AC069154;AMYH02004649;NG_010608 RPL17_5_269 pseudo HGNC:36889 INFERRED 2304409 RPL17P16 ribosomal protein L17 pseudogene 16 3 3 3 p21.31 48111256 48111914 - 48162113 48162777 - 48120623 48121287 - 19123937 729349 ABBA01024659;AC124916;AMYH02006712;NG_009988 RPL17_4_369 pseudo HGNC:35939 INFERRED 1351421 RPL17L1 ribosomal protein L17-like 1, G1-phase expressed 8123253 6140 HGNC:10308 2303484 RPL17P2 ribosomal protein L17 pseudogene 2 14 14 14 q23.1 40729115 40729582 - 60679081 60679548 - 60212363 60212830 - 19123937 652974 ABBA01018278;AL157756;AMYH02029292;NG_009524 RPL17_13_1376 pseudo HGNC:23540 INFERRED 2305767 RPL17P20 ribosomal protein L17 pseudogene 20 4 4 4 q12 55082293 55082918 + 57576187 57576812 + 56710021 56710646 + 19123937 391655 ABBA01003433;AC022483;AMYH02009259;NG_011190 RPL17_10_481 pseudo HGNC:36015 INFERRED 2305041 RPL17P21 ribosomal protein L17 pseudogene 21 5 5 5 q11.2 49153342 49153912 + 52199738 52200308 + 52903908 52904478 + 19123937 100271151 ABBA01015716;AC022133;AMYH02011289;NG_029349 RPL17_12_561 pseudo HGNC:36037 INFERRED 2305290 RPL17P14 ribosomal protein L17 pseudogene 14 2 2 2 q36.3 223644171 223644667 + 229868602 229869098 + 229003886 229004382 + 19123937 100270941 ABBA01050154;AC007677;AMYH02005937;NG_010484 RPL17_8_331 pseudo HGNC:35806 INFERRED 2305042 RPL17P19 ribosomal protein L17 pseudogene 19 4 4 4 q13.1 59536200 59536748 + 62077370 62077918 + 61211652 61212200 + 19123937 100271150 ABBA01022829;AC092643;AMYH02009318;NG_010247 RPL17_11_483 pseudo HGNC:36919 INFERRED 2304971 RPL17P18 ribosomal protein L17 pseudogene 18 3 3 3 q29 196193331 196193967 - 197577236 197577861 - 197850365 197850990 - 19123937 100129657 ABBA01007561;AC144530;AMYH02008525;NG_010629 RPL17_5_454 pseudo HGNC:36538 INFERRED 2305040 RPL17P23 ribosomal protein L17 pseudogene 23 6 6 6 q22.33 128499004 128499605 + 127756759 127757365 + 127435614 127436220 + 19123937 100271152 ABBA01025931;AL096711;AMYH02014449;NG_010254 RPL17_15_751 pseudo HGNC:35832 INFERRED 2305649 RPL17P22 ribosomal protein L17 pseudogene 22 5 5 5 q11.2 52385480 52386097 + 55432771 55433405 + 56136944 56137578 + 19123937 727984 ABBA01015761;AC016638;AMYH02011327;NG_010916 RPL17_13_564 pseudo HGNC:35761 INFERRED 2305039 RPL17P24 ribosomal protein L17 pseudogene 24 6 6 6 q25.2 155272406 155273036 + 154538028 154538658 + 154216894 154217524 + 19123937 100271153 ABBA01025599;AL445220;AMYH02014759;NG_010258;NG_021208 RPL17_16_771 pseudo HGNC:36506 INFERRED 2305695 RPL17P25 ribosomal protein L17 pseudogene 25 6 6 6 q14.1 81505259 81505884 - 81083697 81084321 - 80373980 80374604 - 19123937 442232 ABBA01040421;AL359715;AMYH02013983;NG_010621 RPL17_6_718 pseudo HGNC:36844 INFERRED 2305526 RPL17P27 ribosomal protein L17 pseudogene 27 7 7 7 q34 133111461 133112077 + 138373684 138374300 + 138688939 138689555 + 12690205;19123937 202789 ABBA01001172;AC020983;AMYH02016871;CH236950;NG_009649 EAL24045 RPL17_17_857 pseudo HGNC:36038 INFERRED 2305291 RPL17P28 ribosomal protein L17 pseudogene 28 7 7 7 q34 133471992 133472542 - 138734202 138734752 - 139049456 139050006 - 19123937 100270940 ABBA01001182;AC018644;AMYH02016879;CH236950;NG_010479;NG_029457 RPL17_7_858 pseudo HGNC:36055 INFERRED 2305038 RPL17P29 ribosomal protein L17 pseudogene 29 8 8 8 p23.1 10160480 10161086 + 11032519 11033125 + 11175010 11175616 + 19123937 100271154 ABBA01026884;AF131215;AMYH02017434;NG_010265 RPL17_18_874 pseudo HGNC:36510 INFERRED 2305499 RPL14P3 ribosomal protein L14 pseudogene 3 4 4 4 q31.1 138617364 138618052 - 141287356 141288046 - 140366202 140366892 - 19123937;9847074 730747 ABBA01069979;AC114771;AMYH02010210;NG_010438 RPL14_2_522 pseudo HGNC:36638 INFERRED 1351309 RPL17P3 ribosomal protein L17 pseudogene 3 14 14 14 q31.1 61507372 61508055 - 81467478 81468161 - 81001134 81001817 - 326286 ABBA01030613;AC007262;AMYH02029621;NG_002540;NG_009206 pseudo HGNC:19796 INFERRED 2305037 RPL17P30 ribosomal protein L17 pseudogene 30 8 8 8 p12 40907653 40908175 + 41958836 41959358 + 42101318 42101840 + 19123937 100271155 ABBA01021151;AC103724;AMYH02017889;NG_010271 RPL17_20_898 pseudo HGNC:35604 INFERRED 2305036 RPL17P31 ribosomal protein L17 pseudogene 31 8 8 8 q13.2 64312113 64312745 + 68318704 68319342 + 67406469 67407107 + 19123937 100271156 ABBA01041900;AC011037;AMYH02018136;NG_010274 RPL17_21_910 pseudo HGNC:37036 INFERRED 2304892 RPL17P35 ribosomal protein L17 pseudogene 35 10 10 10 q21.3 59649408 59649950 - 66380137 66380679 - 64620380 64620922 - 19123937 100271284 ABBA01019518;AC013287;AMYH02023212;NG_010932 RPL17_9_1049 pseudo HGNC:35819 INFERRED 2305688 RPL17P34 ribosomal protein L17 pseudogene 34 10 10 10 q23.33 88784910 88785543 - 95043726 95044350 - 93283969 93284593 - 19123937 643863 ABBA01021876;AL365364;AMYH02023552;NG_010111 RPL17_10_1081 pseudo HGNC:36756 INFERRED 2304410 RPL17P36 ribosomal protein L17 pseudogene 36 10 10 10 q26.11 114362128 114362757 - 120631526 120632149 - 118872014 118872637 - 19123937 729340 ABBA01062928;AL157388;AMYH02023897;NG_011307 RPL17_11_1102 pseudo HGNC:36051 INFERRED 2304720 RPL17P37 ribosomal protein L17 pseudogene 37 12 12 12 q24.23 118808858 118809462 - 119175725 119176341 - 118737920 118738536 - 19123937 100271411 ABBA01020064;AC087892;AMYH02027338;NG_010272 1334726;1695712 D12S1619;SHGC-82614 RPL17_12_1285 pseudo HGNC:36854 INFERRED 2304849 RPL17P26 ribosomal protein L17 pseudogene 26 6 6 6 p12.1 58398148 58398774 + 56735947 56736578 + 56871149 56871780 + 19123937 100129784 ABBA01050490;AL512422;AMYH02013782;NG_011287 RPL17_14_707 pseudo HGNC:35597 INFERRED 2304715 RPL17P38 ribosomal protein L17 pseudogene 38 12 12 12 q23.3 107778899 107779498 + 108113341 108113940 + 107719564 107720163 + 19123937 100271417 ABBA01053149;AC007622;AMYH02027147;NG_010301 RPL17_22_1275 pseudo HGNC:36219 INFERRED 2304499 RPL17P39 ribosomal protein L17 pseudogene 39 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPL17 gene, no convincing evidence of transcription exists. It is thus being annotated as a pseudogene. [provided by RefSeq, Feb 2009] 15 15 15 q23 48524673 48525303 - 71633462 71634086 - 71341123 71341747 - 11181995;19123937 645296 ABBA01038745;AC064799;AMYH02030731;CH471082;NG_010917 EAW77871 RPL17_14_1450;hCG2004593 APPROVED pseudo HGNC:36427 INFERRED 1349566 RPL17P4 ribosomal protein L17 pseudogene 4 14 14 14 q32.32 83803396 83803996 + 103749235 103749835 + 103282898 103283498 + 19123937 326288 ABBA01048433;AL138976;AMYH02029919;NG_002541 RPL17_23_1411 pseudo HGNC:19811 INFERRED 2304719 RPL17P40 ribosomal protein L17 pseudogene 40 16 16 16 p13 15868033 15868513 - 16187890 16188370 - 16094033 16094513 - 19123937 100271413 ABBA01048920;AC136624;AC243757;NG_010279;NG_028268 RPL17_15_1477 pseudo HGNC:36672 INFERRED 2304381 RPL17P41 ribosomal protein L17 pseudogene 41 17 17 17 q24.2 62352890 62353505 + 65780824 65781444 + 67784708 67785328 + 19123937 100132645 ABBA01028983;AC006534;AMYH02033850;NG_010200 RPL17_26_1572 pseudo HGNC:36292 INFERRED 2304714 RPL17P42 ribosomal protein L17 pseudogene 42 17 17 17 q12 30957063 30957582 + 34046926 34047445 + 35719907 35720426 + 19123937 100271418 ABBA01011234;AC006237;AMYH02033350;NG_010307 RPL17_25_1540 pseudo HGNC:36749 INFERRED 2304487 RPL17P43 ribosomal protein L17 pseudogene 43 17 17 17 p11.2 16813039 16813699 + 19400217 19400877 + 19496904 19497564 + 19123937 729259 ABBA01054606;AC004448;AMYH02033166;NG_010892 RPL17_24_1526 pseudo HGNC:35996 INFERRED 2304718 RPL17P45 ribosomal protein L17 pseudogene 45 18 18 18 q12.3 34535111 34535689 - 37723890 37724468 - 40143926 40144504 - 19123937 100271414 ABBA01022390;AC104209;AMYH02034594;NG_010285 RPL17_16_1598 pseudo HGNC:35618 INFERRED 2304713 RPL17P46 ribosomal protein L17 pseudogene 46 18 18 18 q21 45206692 45207219 + 48349947 48350474 + 50823577 50824104 + 19123937 100271419 ABBA01018676;AC015864;AMYH02034703;NG_010313 RPL17_27_1601 pseudo HGNC:36202 INFERRED 2305289 RPL17P32 ribosomal protein L17 pseudogene 32 8 8 8 q23 102487202 102487726 - 106300069 106300593 - 105287841 105288365 - 19123937 100270942 ABBA01037659;AC041039;AMYH02018561;NG_010489 RPL17_8_939 pseudo HGNC:36492 INFERRED 2305288 RPL17P17 ribosomal protein L17 pseudogene 17 3 3 3 p14.1 65846141 65846753 + 65829537 65830149 + 65843862 65844474 + 19123937 100270943 ABBA01024300;AC025589;AMYH02006972;NG_010492;NG_029778 RPL17_9_379 pseudo HGNC:35515 INFERRED 2304717 RPL17P47 ribosomal protein L17 pseudogene 47 19 19 19 p13.2 12147581 12148075 - 12253196 12253690 - 12142381 12142875 - 19123937 100271415 ABBA01029806;AC022415;AMYH02035545;NG_010292 RPL17_17_1624 pseudo HGNC:36089 INFERRED 2304716 RPL17P48 ribosomal protein L17 pseudogene 48 20 20 20 q13.33 57348488 57349074 - 60612457 60613043 - 62037401 62037987 - 19123937 100271416 ABBA01040110;AL137077;AMYH02037410;NG_010297 RPL17_19_1717 pseudo HGNC:36997 INFERRED 2304765 RPL17P49 ribosomal protein L17 pseudogene 49 X X X p22.2 16528068 16528478 - 12413876 12414286 - 12395757 12396167 - 19123937 100271388 ABBA01070996;AC112499;AMYH02038875;NG_010144;NG_016419 RPL17_20_1764 pseudo HGNC:37009 INFERRED 7240983 RPL17P50 ribosomal protein L17 pseudogene 50 10 10 10 q22.1 68050692 68051529 - 74765554 74766385 - 73005796 73006627 - 729046 ABBA01020344;AL731563;AMYH02023328;NG_022148 1656608;2161935 D10S2287;RH17681 pseudo HGNC:45098 INFERRED 2304345 RPL17P7 ribosomal protein L17 pseudogene 7 1 1 1 p13.3 107804290 107804913 + 109534858 109535493 + 108992236 108992871 + 11181995;19123937 100132742 ABBA01068358;AC011645;AMYH02001702;BX679664;CH471122;NG_010702 EAW56352;EAW56353 1723233 RH122300 RPL17L;RPL17_3_82 APPROVED pseudo HGNC:36005 INFERRED 2304391 RPL17P6 ribosomal protein L17 pseudogene 6 1 1 1 p31.1 75834162 75834792 + 77594759 77595388 + 77129074 77129703 + 11181995;19123937 645441 ABBA01074403;AC113935;AMYH02001294;CH471059;NG_010347 EAX06384;EAX06385 RPL17_1_64 pseudo HGNC:36520 INFERRED 2304145 RPL17P5 ribosomal protein L17 pseudogene 5 1 1 1 p22.3 85493944 85494574 + 87250561 87251185 + 86784878 86785502 + 19123937 388132 ABBA01045611;AL049597;AMYH02001412;NG_011404 RPL17_2_69 pseudo HGNC:35491 16806 INFERRED 2305100 RPL17P44 ribosomal protein L17 pseudogene 44 18 18 18 q21.33 56802120 56802733 + 60082877 60083490 + 62415644 62416257 + 19123937 100129584 ABBA01056193;AC100843;AMYH02034868;NG_010256 RPL17_28_1610 pseudo HGNC:36396 INFERRED 2305677 RPL17P8 ribosomal protein L17 pseudogene 8 1 1 1 q32.1 178306513 178307127 + 205171285 205171899 + 205202157 205202771 + 19123937 730255 ABBA01027427;AC093422;AMYH02002543;NG_010750;NG_033904 RPL17_4_153 pseudo HGNC:35651 INFERRED 2304413 RPL17P9 ribosomal protein L17 pseudogene 9 1 1 1 p36.11 25178309 25178966 - 26781090 26781751 - 26454599 26455260 - 19123937 729301 ABBA01034910;AL513365;AMYH02000568;NG_011099;NG_029786 RPL17_1_25 pseudo HGNC:36230 INFERRED 1348264 RPL18AP1 ribosomal protein L18a pseudogene 1 14 14 14 q32.12 73743919 73744544 - 93689895 93690521 - 93223549 93224175 - 19123937 326289 ABBA01030434;AL132838;AMYH02029770;NG_002542 RPL18A_3_1401 pseudo HGNC:19778 INFERRED 2304891 RPL18AP10 ribosomal protein L18a pseudogene 10 7 7 7 p14.1-p13 43303681 43304104 + 43313758 43314181 + 43274159 43274582 + 19123937 100271285 ABBA01058182;AC004692;AMYH02015607;CH236951;NG_010938 RPL18A_4_806 pseudo HGNC:35885 INFERRED 2304351 RPL18AP11 ribosomal protein L18a pseudogene 11 9 9 9 p24.1 8647654 8648271 + 8713276 8713894 + 8713276 8713894 + 19123937 100127999 ABBA01065358;AL583805;AMYH02019131;NG_011326;NG_033963 RPL18A_5_961 pseudo HGNC:36661 INFERRED 2304469 RPL18AP12 ribosomal protein L18a pseudogene 12 17 17 17 q21 32342044 32342656 + 35519494 35520110 + 37162580 37163196 + 19123937 100271604 ABBA01012440;AC016482;AC244093;NG_011264;NG_023295 RPL18A_7_1543 pseudo HGNC:36991 INFERRED 1345925 RPL18A ribosomal protein L18a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012] 19 19 19 p13 17872445 17875838 + 17970687 17974133 + 17859878 17863324 + 1580863;6480464 11823430;11875025;12477932;12777385;12962325;14567916;15057824;15064750;15189156;1538749;15489334;15576338;15592455;15635413;16169070;16195786;16196087;16751776;17081983;17207965;17353931;18781797;18819927;19596686;19946888;20020773;21139048;21145461;21182205;21853274;21890473;21906983;21942715;21963094;22178446;22505724;22586326;22751105;22863883;22939629;22944692;23000965;23246001;23398456;23443559;24332808;24457600;24816145;25015289;7662174;7821789;8125298;8722009;9582194 6142 B4DM74;B4DM94;M0R0P7;M0R117;M0R1A7;M0R3D6;Q02543 AB007175;ABBA01051233;AC005796;AC007201;AK222647;AK297323;AK297358;AK300809;AK311774;AMYH02035714;AY779046;BC007512;BC066319;BC071920;BI753938;CH471106;D28393;DQ593295;HY050156;L05093;NM_000980;X80822 AAC18781;AAC62828;AAH07512;AAH66319;AAH71920;AAX47571;ADQ31956;ADZ15791;BAA05759;BAA28596;BAD96367;BAG34717;BAG59786;BAG59806;BAG62465;CAA56788;EAW84641;EAW84642;NP_000971;Q02543 Hs.337766 2135038;5013984;5024368;5024719 D14S105E;RH69992;RP_L18A;SHGC-30024 L18A 60S ribosomal protein L18a;ribosomal protein L18a-like protein APPROVED protein-coding ENSG00000105640 HGNC:10311 16045 604178 REVIEWED 2305723 RPL18AP13 ribosomal protein L18a pseudogene 13 19 19 19 p13.2 11527491 11528108 + 11632746 11633365 + 11521931 11522550 + 19123937 646189 ABBA01029844;AC008481;AMYH02035530;NG_010245 RPL18A_8_1622 pseudo HGNC:36739 INFERRED 733647 RPL18 ribosomal protein L18 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 19 19 19 q13 45983453 45987298 - 49118584 49122675 - 48615327 48619418 - 1580863;6480464 11790298;11875025;12477932;12777385;12962325;14499622;14567916;14702039;15047060;15064750;15189156;15489334;15635413;16196087;16751257;16964243;17361185;17620599;18274552;18457437;18781797;18854154;19287380;19738201;19805454;19913121;19946888;20308691;20628086;20639865;20972266;21139048;21145461;21182205;21319273;21890473;21906983;21926972;21963094;21987572;21988832;22178446;22268729;22505724;22623428;22863883;22939629;23000965;23084401;23125841;23151878;23246001;23398456;23443559;23463506;24332808;24457600;24583282;24657165;24816145;25015289;7821789;8218404;8722009;9582194 6141 F8VUA6;F8VXR6;F8VYV2;G3V203;H0YHA7;J3QQ67;Q07020 AB061825;ABBA01032981;AC022154;AI921565;AK026558;AK091257;AK293386;AMYH02036305;BC000374;BC009708;BC021743;BM764512;CD246847;CD389415;CH471177;D28461;DQ403032;L11566;NG_029867;NM_000979;NM_001270490;NR_073022 AAA16329;AAH00374;AAH09708;AAH21743;ABD77165;ABM82377;ABM85556;BAA05827;BAB79463;BAG56896;EAW52358;EAW52359;EAW52360;EAW52361;EAW52362;EAW52363;EAW52364;NP_000970;NP_001257419;Q07020 Hs.515517 2131322;2139059 RP_L18;SHGC-36947 L18 60S ribosomal protein L18;OTTHUMP00000242005;OTTHUMP00000242050;OTTHUMP00000242051;OTTHUMP00000242052;OTTHUMP00000242053;OTTHUMP00000242055;OTTHUMP00000242056 APPROVED protein-coding ENSG00000063177 HGNC:10310 16046 604179 REVIEWED 2304712 RPL18AP14 ribosomal protein L18a pseudogene 14 X X X q22.3 104523094 104523710 + 104048549 104049177 + 104803869 104804497 + 19123937 100271420 ABBA01018998;AMYH02040182;KF510616;NG_010318;NG_012566;Z70224 RPL18A_9_1800 pseudo HGNC:36624 INFERRED 2304642 RPL18AP16 ribosomal protein L18a pseudogene 16 X X X q28 153161268 153161880 + 152927582 152928196 + 153662127 153662741 + 11181995;19123937;8661155 347544 ABBA01045371;AMYH02040839;CH471172;NG_006952;U52111 EAW72846 RPL18A_10_1821 pseudo HGNC:36288 INFERRED 6481502 RPL18AP17 ribosomal protein L18a pseudogene 17 13 13 73034264 73034465 - 72460126 72460327 - 100873859 ABBA01050331;AL139003;AMYH02028247;NG_032359 pseudo HGNC:39850 INFERRED 1351963 RPL18AP2 ribosomal protein L18a pseudogene 2 21 21 21 q22.3 32953585 32954131 - 47840411 47840957 - 46420497 46421043 - 387494 ABBA01021766;AMYH02037958;AP000336;NG_009884 pseudo HGNC:23774 INFERRED 2303441 RPL18AP3 ribosomal protein L18a pseudogene 3 12 12 12 q23.3 104322748 104323363 + 104659052 104659669 + 104265269 104265892 + 19123937 390354 ABBA01053204;AC089983;AMYH02027096;NG_029391;NG_029392 RPL18A_6_1273;bcm182 pseudo HGNC:31387 INFERRED 2305792 RPL18AP5 ribosomal protein L18a pseudogene 5 1 1 1 p36.11 25900392 25901009 + 27503204 27503821 + 27176713 27177330 + 19123937 729955 ABBA01034956;AL590640;AMYH02000594;NG_009594 RPL18A_1_27 pseudo HGNC:36777 INFERRED 2305824 RPL18AP4 ribosomal protein L18a pseudogene 4 1 1 1 p35.1 31714141 31714755 + 33445508 33446126 + 32979907 32980525 + 11181995;19123937 127545 ABBA01023388;AL355864;AMYH02000725;CH471059;NG_010303 EAX07488 RPL18A_2_30 pseudo HGNC:36556 INFERRED 2304752 RPL18AP6 ribosomal protein L18a pseudogene 6 2 2 2 p16.3 47756455 47757069 - 47917806 47918422 - 47690667 47691283 - 19123937 285053 ABBA01075170;AC079250;AMYH02003761;NG_010647 RPL18A_1_215 pseudo HGNC:36266 INFERRED 2305828 RPL18AP7 ribosomal protein L18a pseudogene 7 3 3 3 p22.2 38504163 38504776 - 38568237 38568853 - 38526746 38527362 - 19123937 100133038 ABBA01024819;AMYH02006571;AP006241;NG_010905 RPL18A_2_364 pseudo HGNC:35607 INFERRED 1347701 RPL18P1 ribosomal protein L18 pseudogene 1 14 14 14 q21.3 28819280 28819850 + 48959100 48959670 + 48489897 48490467 + 17903297;19123937;20125193 326291 ABBA01018101;AL512359;AMYH02029135;NG_002543 RPL18_7_1361 pseudo HGNC:19673 INFERRED 2304890 RPL18P10 ribosomal protein L18 pseudogene 10 13 13 13 q14 31728074 31728615 + 50673470 50674011 + 50099334 50099875 + 19123937 100271286 ABBA01051035;AL137060;AMYH02028021;NG_010943 RPL18_6_1311 pseudo HGNC:35957 INFERRED 2304751 RPL18P11 ribosomal protein L18 pseudogene 11 15 15 15 q25.1 55889817 55890450 - 78953350 78953983 - 78661008 78661641 - 19123937 390612 ABBA01060591;AC067863;AMYH02030865;NG_011096 RPL18_4_1455 pseudo HGNC:35742 INFERRED 2304750 RPL18P12 ribosomal protein L18 pseudogene 12 16 16 16 p13.3 3752948 3753589 + 3546168 3546809 + 3496168 3496809 + 19123937 390671 ABBA01026740;AC004224;AMYH02031292;NG_010057 RPL18_8_1468 pseudo HGNC:36115 INFERRED 2305372 RPL18AP15 ribosomal protein L18a pseudogene 15 X X X q23 111347013 111347622 - 110867391 110868001 - 111624163 111624773 - 19123937 392522 AL096764;AMYH02040238;NG_010399 2126142 DXS7355 RPL18A_4_1802 pseudo HGNC:36010 INFERRED 2305361 RPL17P33 ribosomal protein L17 pseudogene 33 8 8 8 p12 28449482 28450100 + 29489572 29490199 + 29632056 29632683 + 19123937 646909 ABBA01005621;AC069181;AMYH02017702;NG_011315 RPL17_19_888 pseudo HGNC:36654 INFERRED 2305883 RPL18P13 ribosomal protein L18 pseudogene 13 16 16 16 q23.1 60571356 60571995 - 76268915 76269554 - 76235017 76235656 - 19123937 441775 ABBA01017049;AC010528;AMYH02032413;NG_010911 RPL18_5_1500 pseudo HGNC:35599 INFERRED 2305338 RPL18P3 ribosomal protein L18 pseudogene 3 5 5 5 q23.1 116906104 116906753 + 120951910 120952559 + 121616215 121616864 + 19123937 100129374 ABBA01068965;AC106806;AMYH02012081;NG_010491 RPL18_2_608 pseudo HGNC:35783 INFERRED 2304870 RPL18P4 ribosomal protein L18 pseudogene 4 7 7 7 q31.31 115890047 115890496 - 121080866 121081315 - 121440812 121441261 - 12690205;19123937 392979 ABBA01057759;AC074085;AMYH02016667;CH236947;NG_009449 EAL24345 RPL18_1_838 pseudo HGNC:36144 INFERRED 2305287 RPL18P5 ribosomal protein L18 pseudogene 5 7 7 7 q33 131587698 131588315 + 136848778 136849395 + 137164031 137164648 + 19123937 100270944 ABBA01001140;AC009517;AMYH02016839;CH236950;NG_010496 RPL18_3_852 pseudo HGNC:36425 INFERRED 2305565 RPL18P6 ribosomal protein L18 pseudogene 6 8 8 8 q23.2 107098812 107102799 - 110911397 110915382 - 109899168 109903153 - 19123937 100131333 ABBA01037718;AC023245;AMYH02018607;NG_009990 RPL18_2_942 pseudo HGNC:35528 INFERRED 2305286 RPL18P7 ribosomal protein L18 pseudogene 7 8 8 8 q23.3 110575444 110576098 + 114388865 114389519 + 113376636 113377290 + 19123937 100270945 ABBA01037754;AC107890;AMYH02018633;NG_010500 1335686;1679221 D8S555;SHGC-1966 RPL18_4_944 pseudo HGNC:35936 INFERRED 2304970 RPL18P8 ribosomal protein L18 pseudogene 8 11 11 11 p12 39337289 39337822 + 39182990 39183523 + 39161440 39161973 + 19123937 100129670 ABBA01060825;AC021723;AMYH02024642;NG_010700 1341045;1706172;1729216 D11S4148;D11S871;SHGC-80610 RPL18_5_1138 pseudo HGNC:36878 INFERRED 2304974 RPL18P9 ribosomal protein L18 pseudogene 9 12 12 12 p13.32 5840691 5851152 - 4218662 4229121 - 4109496 4119955 - 19123937 100129645 ABBA01048771;AC007207;AMYH02025917;NG_010566 1662352;1726025;2170663 G10146;G62286;U23913 RPL18_3_1196 pseudo HGNC:36766 INFERRED 2305284 RPL19P10 ribosomal protein L19 pseudogene 10 5 5 5 q34 166804522 166805217 - 170771971 170772666 - 171344967 171345662 - 19123937 100270948 ABBA01044081;AC091980;AMYH02012732;NG_010516 1852716 WI-16216 RPL19_3_638 pseudo HGNC:36534 INFERRED 2305283 RPL19P11 ribosomal protein L19 pseudogene 11 5 5 5 p13.3 30934371 30935096 + 31053630 31054355 + 31053523 31054248 + 19123937 100270950 ABBA01066714;AC026421;AMYH02011108;NG_010524 RPL19_6_547 pseudo HGNC:36953 INFERRED 2305596 RPL19P13 ribosomal protein L19 pseudogene 13 8 8 8 p23.1 10241518 10242206 + 11113499 11114187 + 11255990 11256678 + 19123937 392193 ABBA01026882;AC100809;AMYH02017436;NG_009963 RPL19_8_875 pseudo HGNC:36879 INFERRED 2305282 RPL19P14 ribosomal protein L19 pseudogene 14 8 8 8 q22.2 95980042 95980740 + 99794240 99794938 + 98782012 98782710 + 19123937 100270951 ABBA01037543;AMYH02018485;AP003551;NG_010531 RPL19_9_931 pseudo HGNC:35684 INFERRED 2305620 RPL18AP8 ribosomal protein L18a pseudogene 8 3 3 3 q11.2 94726805 94727410 + 96338113 96338718 + 96619269 96619874 + 19123937;23251661 644082 ABBA01026947;AC117444;AMYH02007276;NG_011252 1735226;5023539 D3S2893E;PMC316374P5 RPL18A_3_387 pseudo HGNC:36984 INFERRED 2305686 RPL19P16 ribosomal protein L19 pseudogene 16 10 10 10 q26.12 116624773 116625511 - 122892530 122893268 - 121133016 121133754 - 19123937 646255 ABBA01062864;AC024599;AMYH02023934;NG_010575 RPL19_5_1105 pseudo HGNC:36596 INFERRED 1352268 RPL19P1 ribosomal protein L19 pseudogene 1 20 20 20 p13 2825778 2826205 + 2761261 2761688 + 2780615 2781042 + 19123937 140759 ABBA01053798;AL035460;AMYH02036585;NG_001002 RPL19_11_1678;dJ860F19.2 pseudo HGNC:16595 INFERRED 2305221 RPL18P2 ribosomal protein L18 pseudogene 2 1 1 1 q25.3 155408707 155409307 + 182297593 182298193 + 182328458 182329058 + 19123937 100129421 ABBA01027769;AL513480;AMYH02002269;NG_010738 RPL18_1_137 pseudo HGNC:35759 INFERRED 2304889 RPL19P17 ribosomal protein L19 pseudogene 17 12 12 12 p13 17865201 17865875 - 12721058 12721732 - 12568124 12568798 - 19123937 100271287 ABBA01067844;AC092824;AMYH02026060;NG_010951 RPL19_6_1208 pseudo HGNC:36829 INFERRED 2304888 RPL19P18 ribosomal protein L19 pseudogene 18 17 17 17 p12 9525489 9526184 - 9493137 9493832 - 9589820 9590515 - 19123937 100271288 ABBA01054956;AC087501;AMYH02032952;NG_010954 RPL19_7_1512 pseudo HGNC:36121 INFERRED 2305220 RPL19P12 ribosomal protein L19 pseudogene 12 7 7 7 q22.1 97589619 97590751 - 102781717 102782850 - 103141270 103142403 - 6480464 19123937 100129424 ABBA01057995;AC007683;AC216130;AMYH02016449;AW373666;CD709306;NR_026660 Hs.720729 RPL19_4_829 pseudo HGNC:36047 VALIDATED 2305471 RPL19P19 ribosomal protein L19 pseudogene 19 19 19 19 q13.43 55507932 55508640 - 58464455 58465163 - 57953087 57953795 - 19123937 646820 ABBA01020789;AC010326;AMYH02036523;NG_010859 RPL19_8_1674 pseudo HGNC:36194 INFERRED 2303447 RPL19P2 ribosomal protein L19 pseudogene 2 3 3 3 p14.3 57133688 57134387 + 57168131 57168830 + 57134103 57134802 + 19123937 654382 ABBA01024426;AC097358;AMYH02006859;NG_009531 RPL19_3_373 pseudo HGNC:29946 INFERRED 2305480 RPL19P20 ribosomal protein L19 pseudogene 20 X X X p11.3 48645138 48645843 + 44508339 44509044 + 44649093 44649798 + 19123937 392451 ABBA01046339;AL136137;AMYH02039240;NG_009975 RPL19_12_1775 pseudo HGNC:35713 INFERRED 2305371 RPL19P21 ribosomal protein L19 pseudogene 21 X X X q28 150409791 150410496 + 150161938 150162643 + 150993465 150994170 + 19123937 392557 ABBA01037181;AF003626;AMYH02040776;NG_010567 1793850 PMC299900P1 RPL19_13_1819 pseudo HGNC:35868 INFERRED 2305332 RPL19P3 ribosomal protein L19 pseudogene 3 1 1 1 p31.3 62544186 62544879 - 64254312 64255005 - 63788641 63789334 - 19123937 100131759 ABBA01074566;AL161742;AMYH02001159;NG_010913;NG_032801 RPL19_1_59 pseudo HGNC:36671 INFERRED 2305510 RPL19P4 ribosomal protein L19 pseudogene 4 2 2 2 q21.1 124324702 124325392 + 131051362 131052052 + 130293789 130294479 + 19123937 646710 ABBA01017954;AC068137;AMYH02004775;NG_010288 RPL19_1_276 pseudo HGNC:36539 INFERRED 2305116 RPL19P15 ribosomal protein L19 pseudogene 15 9 9 9 q34.12 104065691 104066384 + 133527158 133527851 + 130651771 130652464 + 19123937 642306 ABBA01012053;AL359092;AMYH02021767;NG_009968 RPL19_10_1014 pseudo HGNC:35920 INFERRED 2305285 RPL19P6 ribosomal protein L19 pseudogene 6 3 3 3 q23 140185920 140186601 - 141762386 141763067 - 142043544 142044225 - 19123937 100270946 AC133435;AMYH02007812;NG_010507 RPL19_2_411 pseudo HGNC:36795 INFERRED 2305494 RPL19P7 ribosomal protein L19 pseudogene 7 3 3 3 q12 96730621 96731241 + 98338920 98339540 + 98620076 98620696 + 19123937 100131527 ABBA01026928;AC021660;AMYH02007288;NG_011033 1784580 SHGC-111383 RPL19_4_388 pseudo HGNC:36088 INFERRED 2305736 RPL19P8 ribosomal protein L19 pseudogene 8 4 4 4 q34.3 176535940 176536633 + 179207825 179208518 + 178286671 178287364 + 19123937;22747683 391719 ABBA01070439;AC095041;AMYH02010572;NG_010214 RPL19_5_537 pseudo HGNC:36696 INFERRED 2305720 RPL19P9 ribosomal protein L19 pseudogene 9 5 5 5 q35.3 173110139 173110835 + 177482573 177483269 + 178055572 178056268 + 19123937 653314 ABBA01009980;AC136632;AMYH02012859;NG_009970 1852716 WI-16216 RPL19_7_643 pseudo HGNC:35918 INFERRED 734460 RPL19 ribosomal protein L19 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 17 17 17 q12 34017441 34021884 + 37356536 37360980 + 39200283 39204727 + 6480464 11401437;11875025;12149109;12477932;12962325;14567916;15161933;15189156;15489334;1577483;1598220;16196087;16609016;17207965;17244347;17620599;18676770;18781797;19799608;19850743;19946888;20020773;21044950;21139048;21145461;21182205;21319273;21396810;21799931;21890473;21906983;21907836;21963094;21987572;21988832;22053931;22505724;22586326;22863883;22939629;23000965;23084401;23125841;23246001;23398456;23443559;23455922;23463506;24140708;24250222;24332808;24457600;24583282;24816145;24950402;25015289;3542997;7789970;8095182;8125298;8722009 6143 J3KTE4;J3QL15;J3QR09;P84098 AB055766;ABBA01031881;AC004408;AK130962;AK223082;AK311858;AMYH02033373;AY157980;BC000530;BC013016;BC062709;BC066315;BC095445;BX537435;CH471152;CS185559;NM_000981;S56985;X63527;X82201;XM_005257564 AAB25672;AAH00530;AAH13016;AAH62709;AAH66315;AAH95445;AAN76335;ABM82303;ACE86709;ACE87394;ADQ31681;BAB62860;BAD96802;BAG34799;CAA45090;CAD97677;CAJ42740;EAW60565;EAW60566;EAW60567;EAW60568;NP_000972;P84098;XP_005257621 Hs.381061 5109703;5117050 DXS6985E;GDB:388558 DKFZp779D216;FLJ27452;L19;MGC71997 60S ribosomal protein L19;ribosomal protein L19, cytosolic, N-terminus truncated APPROVED protein-coding ENSG00000108298 HGNC:10312 01594 180466 REVIEWED 1344772 RPL21P1 ribosomal protein L21 pseudogene 1 12 12 12 q24.31 122439781 122440731 + 122849289 122850221 + 122364742 122365674 + 7940018 6145 ABBA01060471;AC079406;AMYH02027420;NG_000868;NG_030352;X63773 RPL21P pseudo HGNC:10314 INFERRED 2304702 RPL21P101 ribosomal protein L21 pseudogene 101 12 12 12 q12 42758691 42759261 - 43954569 43955139 - 43560766 43561336 - 19123937 100271431 ABBA01031416;AC090525;AMYH02026377;NG_010382 RPL21_42_1230 pseudo HGNC:35733 INFERRED 2304703 RPL21P100 ribosomal protein L21 pseudogene 100 12 12 12 p13.2 17451211 17451792 + 12308157 12308738 + 12155223 12155804 + 19123937 100271430 ABBA01067829;AC007537;AMYH02026052;NG_010370;NG_016168 RPL21_42_1206 pseudo HGNC:36048 INFERRED 2304701 RPL21P102 ribosomal protein L21 pseudogene 102 12 12 12 p12.1 29942485 29943030 + 24795587 24796132 + 24642653 24643198 + 19123937 100271432 ABBA01068006;AC087312;AMYH02026214;NG_010386 RPL21_43_1219 pseudo HGNC:36295 INFERRED 68568 RPL21 ribosomal protein L21 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 13 13 13 q12.2 8894559 8899578 + 27825692 27830705 + 27251555 27256568 + 1580863;6480464;8699517 11181995;11401437;11751223;11773032;11875025;12477932;12690205;12777385;12962325;14567916;15064750;15189156;15303970;15489334;15635413;16169070;16196087;17353931;17620599;17903306;18274552;19596686;19738201;19946888;20020773;21139048;21145461;21182205;21412954;21890473;21906983;21963094;21987572;22118674;22234250;22505724;22586326;22623428;22863883;22939629;23000965;23084401;23246001;23398456;23443559;24457600;24583282;24654937;24816145;7772601;7821789;7951316;8722009;9582194 6144 G3V1B3;M0R181;M0R3I5;P46778;Q6IAX2 AB007176;AB061826;ABBA01035750;AF086172;AK130968;AK311795;AL159977;AMYH02027748;BC001603;BC007505;BC019002;BC062981;BC070184;BC070185;BC070323;BC070330;BC071902;BC104478;BC104667;BX647669;CH471075;CR457032;D28406;NM_000982;U14967;U25789;X89401 AAA85655;AAA93231;AAH01603;AAH07505;AAH62981;AAH70184;AAH70323;AAH70330;AAH71902;AAI04668;BAA05772;BAA25835;BAB79464;BAG34738;CAA61582;CAG33313;EAX08395;EAX08396;EAX08397;EAX08398;EAX08399;EAX08400;EAX08401;NP_000973;P46778 Hs.381123;Hs.535873 1647776;1769679;5014514;5015747 D11S4359;D13S1456;RP_L21_1;WI-22777 DKFZp686C06101;FLJ27458;HYPT12;L21;MGC104274;MGC104275;MGC71252 60S ribosomal protein L21;OTTHUMP00000018163;OTTHUMP00000018164;OTTHUMP00000018165;OTTHUMP00000018166;OTTHUMP00000018167 APPROVED protein-coding ENSG00000122026 HGNC:10313 04700 603636;615885 REVIEWED 2304700 RPL21P103 ribosomal protein L21 pseudogene 103 12 12 12 q14.1 58307295 58307855 + 58638127 58638687 + 58244344 58244904 + 19123937 100271433 ABBA01026685;AC079034;AMYH02026604;NG_010392 RPL21_44_1241 pseudo HGNC:36732 INFERRED 2304698 RPL21P104 ribosomal protein L21 pseudogene 104 12 12 12 q14.1 61839160 61839710 + 62169663 62170212 + 61775882 61776431 + 19123937 100271435 ABBA01026643;AC137053;AMYH02026629;NG_010402 RPL21_45_1243 pseudo HGNC:36918 INFERRED 2305223 RPL21P105 ribosomal protein L21 pseudogene 105 12 12 12 q24.22 116822701 116823265 - 117193158 117193722 - 116755353 116755917 - 19123937;22118674 728693 ABBA01020022;AC090013;AMYH02027300;NG_009699 RPL21_43_1282 pseudo HGNC:36304 INFERRED 2305915 RPL21P106 ribosomal protein L21 pseudogene 106 12 12 12 q21.33 92233423 92233974 + 92562142 92562693 + 92168366 92168917 + 19123937 643264 ABBA01053398;AC025164;AMYH02026923;NG_009728 1746529 G64460 RPL21_48_1266 pseudo HGNC:36188 INFERRED 2305228 RPL21P107 ribosomal protein L21 pseudogene 107 13 13 13 q34 92261172 92261694 - 111414991 111415523 - 110762644 110763176 - 19123937 644627 ABBA01026991;AL157875;AMYH02028713;NG_009801 RPL21_46_1336 pseudo HGNC:36313 INFERRED 2304697 RPL21P109 ribosomal protein L21 pseudogene 109 13 13 13 q22 53180332 53180885 + 72278272 72278825 + 71704140 71704693 + 19123937 100271437 ABBA01050327;AL138698;AMYH02028237;NG_010414;NG_011849 RPL21_49_1320 pseudo HGNC:36388 INFERRED 2304699 RPL21P108 ribosomal protein L21 pseudogene 108 13 13 13 q22.1 55851511 55851869 - 74951730 74952088 - 74377593 74377951 - 19123937 100271434 ABBA01050359;AL355390;AMYH02028270;NG_010398 RPL21_44_1324 pseudo HGNC:35496 INFERRED 2305584 RPL19P5 ribosomal protein L19 pseudogene 5 2 2 2 q35 212985375 212985958 + 219218765 219219348 + 218354042 218354625 + 19123937 646532 ABBA01023872;AC021016;AMYH02005791;NG_010688 2109525;2179899 HSC2KC082;MR-_1_9437 RPL19_2_325 pseudo HGNC:36325 INFERRED 1344889 RPL21P11 ribosomal protein L21 pseudogene 11 14 14 14 q32.11 70880131 70880718 - 90832979 90833566 - 90366635 90367222 - 19123937 157206 ABBA01030501;AL161662;AL512791;AMYH02029724;NG_002488 RPL21_50_1399 pseudo HGNC:19800 INFERRED 2305490 RPL21P112 ribosomal protein L21 pseudogene 112 13 13 13 q32.1 76260718 76261257 - 95412768 95413307 - 94760514 94761053 - 19123937 100270753 ABBA01027204;AL137061;AMYH02028507;NG_009638 RPL21_45_1329 pseudo HGNC:36526 INFERRED 2304692 RPL21P115 ribosomal protein L21 pseudogene 115 15 15 15 q22 49313274 49313727 + 72426943 72427396 + 72134602 72135055 + 19123937 100271443 ABBA01038737;AC020779;AMYH02030750;NG_010440 RPL21_54_1451 pseudo HGNC:35878 INFERRED 2304693 RPL21P114 ribosomal protein L21 pseudogene 114 15 15 15 q22.2 36705161 36705700 - 59817584 59818123 - 59525385 59525924 - 19123937 100271441 ABBA01038961;AC092754;AMYH02030544;NG_010434 RPL21_52_1438 pseudo HGNC:36776 INFERRED 2304691 RPL21P116 ribosomal protein L21 pseudogene 116 15 15 15 q24 56091879 56092438 - 79155554 79156113 - 78863212 78863771 - 19123937 100271444 ABBA01060597;AC103975;AMYH02030869;NG_010446 RPL21_55_1456 pseudo HGNC:36101 INFERRED 2304694 RPL21P113 ribosomal protein L21 pseudogene 113 15 15 15 q21 36229548 36229882 - 59341598 59341932 - 59049399 59049733 - 19123937 100271440 ABBA01038971;AC092757;AMYH02030539;NG_010430 RPL21_51_1437 pseudo HGNC:36563 INFERRED 2304696 RPL21P110 ribosomal protein L21 pseudogene 110 13 13 13 q22.1 54176274 54176791 + 73277791 73278308 + 72703653 72704170 + 19123937 100271438 ABBA01050335;AL356754;AMYH02028250;NG_010419 RPL21_50_1323 pseudo HGNC:35627 INFERRED 2304695 RPL21P111 ribosomal protein L21 pseudogene 111 13 13 13 q31.1 60235595 60236147 + 79335269 79335821 + 78761134 78761686 + 19123937 100271439 ABBA01021683;AL354869;AMYH02028335;NG_010423 RPL21_51_1327 pseudo HGNC:36564 INFERRED 1353396 RPL21P10 ribosomal protein L21 pseudogene 10 14 14 14 q24.3 58188049 58188882 - 78149533 78150370 - 77683190 77684027 - 19123937 319143 ABBA01030646;AC008044;AMYH02029577;NG_002519 5115304 G35523 RPL21_49_1395 pseudo HGNC:19795 INFERRED 2304490 RPL21P117 ribosomal protein L21 pseudogene 117 15 15 15 q22.2 36732191 36732752 - 59844771 59845332 - 59552572 59553133 - 19123937 729241 ABBA01038961;AC092754;AMYH02030545;NG_009622 RPL21_53_1439 pseudo HGNC:35987 INFERRED 2304689 RPL21P118 ribosomal protein L21 pseudogene 118 16 16 16 q22.3 58660198 58660545 - 74346934 74347281 - 74313036 74313383 - 19123937 100271446 ABBA01005300;AC009120;AMYH02032378;NG_010453 RPL21_57_1497 pseudo HGNC:35954 INFERRED 1348194 RPL21P12 ribosomal protein L21 pseudogene 12 14 14 14 q32.32 83669039 83669918 + 103614894 103615775 + 103148557 103149438 + 122409 ABBA01048434;AL161669;AMYH02029917;NG_002482 pseudo HGNC:19810 INFERRED 2305579 RPL21P119 ribosomal protein L21 pseudogene 119 16 16 16 p13.2 2935 3413 - 9250199 9250778 - 9156342 9156921 - 19123937;22118674;23251661 653737 ABBA01019742;AC087190;AMYH02031418;NG_010884 RPL21_56_1471 pseudo HGNC:35614 INFERRED 2304482 RPL21P120 ribosomal protein L21 pseudogene 120 17 17 17 p11.2 21148146 21148722 - 21407844 21408417 + 21504518 21505094 + 19123937;22118674 731688 ABBA01050469;AC138710;AC233702;NG_009668 RPL21_57_1527 pseudo HGNC:35743 INFERRED 2304690 RPL21P121 ribosomal protein L21 pseudogene 121 17 17 17 p11.2 19157530 19157916 + 18216459 18216845 + 18313145 18313531 + 19123937 100271445 ABBA01009733;AC127537;AMYH02033114;NG_010450 RPL21_56_1523 pseudo HGNC:36429 INFERRED 2305475 RPL21P128 ribosomal protein L21 pseudogene 128 18 18 18 q11.1 15504770 15505311 - 18699111 18699664 - 21119150 21119703 - 19123937;22118674 440487 ABBA01022697;AC022795;AMYH02034368;NG_010871 RPL21_62_1585 pseudo HGNC:36311 INFERRED 2304969 RPL21P125 ribosomal protein L21 pseudogene 125 17 17 17 p13.2 3582210 3582774 + 3568471 3569034 + 3665177 3665740 + 19123937;22118674 100129685 ABBA01054742;AC132942;AMYH02032807;NG_010788 RPL21_55_1506 pseudo HGNC:36039 INFERRED 1348658 RPL21P13 ribosomal protein L21 pseudogene 13 14 14 14 q32.32 83761895 83762448 + 103707789 103708342 + 103241452 103242005 + 19123937 319144 ABBA01048434;AL138976;AMYH02029918;NG_002520 RPL21_52_1410 pseudo HGNC:19812 INFERRED 2304687 RPL21P123 ribosomal protein L21 pseudogene 123 17 17 17 p11.2 24904370 24904776 - 28043297 28043703 - 29716279 29716685 - 19123937 100271448 ABBA01015011;AC104564;AMYH02033256;NG_010460 RPL21_59_1535 pseudo HGNC:35691 INFERRED 2304684 RPL21P129 ribosomal protein L21 pseudogene 129 19 19 19 p13 7686942 7687488 + 7815530 7816076 + 7750644 7751190 + 19123937 100271451 ABBA01010887;AC008812;AMYH02035405;NG_010476 RPL21_60_1619 pseudo HGNC:36747 INFERRED 2304686 RPL21P126 ribosomal protein L21 pseudogene 126 18 18 18 q21.2 50020320 50020872 + 53303025 53303577 + 55635794 55636346 + 19123937 100271449 ABBA01056116;AC090383;AMYH02034774;KF459816;NG_010465 1335246 D18S364 RPL21_59_1605 pseudo HGNC:35959 INFERRED 2304685 RPL21P124 ribosomal protein L21 pseudogene 124 17 17 17 q21 43932812 43933183 - 47477791 47478162 - 49400429 49400800 - 19123937 100271450 ABBA01041206;AC091180;AMYH02033573;NG_010469 RPL21_60_1556 pseudo HGNC:36060 INFERRED 2304688 RPL21P122 ribosomal protein L21 pseudogene 122 17 17 17 p12 11944600 11945138 - 11914033 11914571 - 12010716 12011254 - 19123937 100271447 ABBA01054999;AC005410;AMYH02032997;NG_010456 RPL21_58_1515 pseudo HGNC:36990 INFERRED 2304420 RPL21P131 ribosomal protein L21 pseudogene 131 19 19 19 q13.11 30773697 30774256 - 34080073 34080634 - 33589167 33589728 - 19123937;22118674 388532 ABBA01004312;AC010485;AMYH02035938;NG_010937 RPL21_64_1647 pseudo HGNC:36428 INFERRED 7174868 RPL21P135 ribosomal protein L21 pseudogene 135 3 3 3 37723950 37724814 + 37789562 37790426 + 37748071 37748935 + 100419391 ABBA01024842;AC093415;AMYH02006561;NG_025687 pseudo HGNC:44539 INFERRED 2304763 RPL21P132 ribosomal protein L21 pseudogene 132 X X X q22 101115038 101115384 + 100595578 100595924 + 101340590 101340936 + 19123937 100271390 ABBA01044973;AL035422;AMYH02040066;NG_010154 RPL21_62_1798 pseudo HGNC:35865 INFERRED 2304762 RPL21P133 ribosomal protein L21 pseudogene 133 X X X q26 134127993 134128552 + 133741142 133741701 + 134607112 134607671 + 19123937 100271391 ABBA01042461;AL672032;AMYH02040529;NG_010165 RPL21_63_1815 pseudo HGNC:36003 INFERRED 8549229 RPL21P136 ribosomal protein L21 pseudogene 136 12 12 12 17911727 17912981 - 12767588 12768843 - 12614654 12615909 - 100419521 ABBA01067844;AC008115;AMYH02026061;NG_023985 pseudo HGNC:49854 INFERRED 2304683 RPL21P127 ribosomal protein L21 pseudogene 127 18 18 18 p11.3 3285887 3286435 - 3406308 3406856 - 3406310 3406858 - 19123937 100271452 ABBA01049851;AMYH02034225;AP001025;NG_010481 RPL21_61_1581 pseudo HGNC:36099 INFERRED 2305106 RPL21P134 ribosomal protein L21 pseudogene 134 X X X q13.3 74887483 74888040 + 74604141 74604698 + 75384306 75384863 + 19123937;22118674 728782 ABBA01059460;AL137013;AMYH02039788;NG_011068;NG_012974 RPL21_61_1788 pseudo HGNC:36006 INFERRED 2304682 RPL21P130 ribosomal protein L21 pseudogene 130 19 19 19 p13.2 17602035 17602574 - 17700379 17700918 - 17589570 17590109 - 19123937 100271453 AC010618;AMYH02035708;NG_010486 RPL21_63_1633 pseudo HGNC:36453 INFERRED 2303316 RPL21P14 ribosomal protein L21 pseudogene 14 15 15 15 q22.1 36049762 36050310 + 59161818 59162366 + 58869619 58870167 + 19123937;22118674 729208 ABBA01038977;AC090515;AMYH02030535;NG_009507 HsT16795;RPL21_53_1436 pseudo HGNC:31029 INFERRED 1350064 RPL21P16 ribosomal protein L21 pseudogene 16 10 10 10 q26.12 115845152 115845733 - 122114157 122114738 - 120354645 120355226 - 19123937;21145461;22118674 729402 ABBA01062878;AC073587;AMYH02023921;NG_009450 1728663 G63623 RPL21_38_1104 pseudo HGNC:31396 INFERRED 2303445 RPL21P15 ribosomal protein L21 pseudogene 15 15 15 15 q22.31 41801032 41801488 - 64923276 64923732 - 64631077 64631533 - 19123937 654385 ABBA01038878;AC090543;AMYH02030613;NG_009532 HsT18206;RPL21_54_1444 pseudo HGNC:31030 INFERRED 2303332 RPL21P17 ribosomal protein L21 pseudogene 17 3 3 3 p26.3 1886876 1887397 + 1947332 1947853 + 1905648 1906169 + 19123937 727810 ABBA01020494;AC018814;AMYH02006150;NG_009372 RPL21_9_342 pseudo HGNC:19416 INFERRED 1353492 RPL21P2 ribosomal protein L21 pseudogene 2 20 20 20 p13 4102099 4102650 - 4040248 4040799 - 4059601 4060152 - 19123937 140715 ABBA01053845;AL356414;AMYH02036613;NG_000986 RPL21_65_1679;bA352D3.1 pseudo HGNC:16539 INFERRED 2305762 RPL21P19 ribosomal protein L21 pseudogene 19 1 1 1 q32.1 177451322 177451863 - 204315885 204316426 - 204346757 204347298 - 19123937;21145461 641293 Q59GK9 AB209100;ABBA01027447;AL592114;AMYH02002534;NG_005331 BAD92337 Hs.679502 5014514;5015747 D11S4359;D13S1456 RPL21_7_151 pseudo HGNC:35748 INFERRED 2303827 RPL21P18 ribosomal protein L21 pseudogene 18 12 12 12 q14.3 66096787 66097335 + 66430975 66431524 + 66037195 66037744 + 19123937 729484 ABBA01026579;AC135255;AMYH02026675;NG_009709 1739697;2151205;5119290 D12S1486;D12S1553;U27136 RPL21_46_1252 pseudo HGNC:28362 INFERRED 2304398 RPL21P20 ribosomal protein L21 pseudogene 20 1 1 1 p34.2 39081103 39081660 - 40798714 40799270 - 40333042 40333598 - 19123937;22118674 388621 ABBA01023178;AL031985;AMYH02000852;NG_010042 RPL21_3_36 pseudo HGNC:36582 INFERRED 2305281 RPL21P27 ribosomal protein L21 pseudogene 27 1 1 1 q23 138750666 138751210 + 165645509 165646053 + 165676272 165676816 + 19123937 100270952 ABBA01047280;AL451074;AMYH02002065;NG_010535 RPL21_3_112 pseudo HGNC:36371 INFERRED 2305604 RPL21P28 ribosomal protein L21 pseudogene 28 1 1 1 q32.3 185451910 185452475 - 212224828 212225393 - 212051486 212052051 - 19123937;22118674 100131205 ABBA01048185;AC092814;AL592297;AMYH02002632;CH471100;EC535637;EC565990;NR_026911 EAW93399 Hs.126774 5015747 D11S4359 RPL21_8_160 pseudo ENSG00000220749 HGNC:36258 VALIDATED 2305365 RPL21P29 ribosomal protein L21 pseudogene 29 1 1 1 p36.12 20557484 20558040 + 22234551 22235107 + 21908058 21908614 + 19123937;22118674 440575 ABBA01059834;AL590556;AMYH02000462;NG_011325;NG_016740 RPL21_1_19 pseudo HGNC:35793 INFERRED 1350158 RPL21P3 ribosomal protein L21 pseudogene 3 20 20 20 p11.23 18539952 18540794 + 18465869 18466711 + 18485225 18486067 + 128760 ABBA01054047;AL121893;AMYH02036780;NG_000976 1712214;2217794 G54014;POLR3F_3526 bA189K21.4 pseudo HGNC:16533 INFERRED 2305402 RPL21P22 ribosomal protein L21 pseudogene 22 1 1 1 p35.2 29837466 29838028 - 31580948 31581510 - 31108101 31108663 - 19123937 100270878 ABBA01023482;AC114495;AMYH02000676;NG_010153 RPL21_2_29 pseudo HGNC:36550 INFERRED 2305399 RPL21P25 ribosomal protein L21 pseudogene 25 1 1 1 p33 47248985 47249464 - 48962929 48963408 - 48497257 48497736 - 19123937 100270881 ABBA01050801;AL356968;AMYH02000982;NG_010175 1708226 SHGC-79373 RPL21_5_46 pseudo HGNC:36785 INFERRED 2305398 RPL21P26 ribosomal protein L21 pseudogene 26 1 1 1 p22-p21 93125610 93126145 - 94871943 94872478 - 94406387 94406922 - 19123937 100270882 ABBA01045509;AC118469;AMYH02001508;NG_010180 RPL21_6_74 pseudo HGNC:35910 INFERRED 2305400 RPL21P24 ribosomal protein L21 pseudogene 24 1 1 1 p33 46249844 46250364 - 47963534 47964053 - 47497862 47498381 - 19123937;24047446 100270880 ABBA01050816;AL356458;AMYH02000972;NG_010168 RPL21_4_45 pseudo HGNC:35702 INFERRED 2305401 RPL21P23 ribosomal protein L21 pseudogene 23 1 1 1 p32.2 55288898 55289443 + 57004084 57004629 + 56538412 56538957 + 19123937 100270879 ABBA01074681;AC099562;AMYH02001076;NG_010163 2163669 D1S2091 RPL21_2_54 pseudo HGNC:36205 INFERRED 2305403 RPL21P21 ribosomal protein L21 pseudogene 21 1 1 1 p36.3 9225931 9226273 - 10114498 10114840 - 10054440 10054782 - 19123937 100270877 ABBA01035584;AL590639;AMYH02000260;NG_010149 RPL21_1_11 pseudo HGNC:35728 INFERRED 2305032 RPL21P31 ribosomal protein L21 pseudogene 31 2 2 2 q32 169512003 169512501 - 175898513 175898962 - 175033785 175034234 - 19123937 100271160 ABBA01062202;AC007435;AMYH02005283;NG_010296 RPL21_12_296 pseudo HGNC:36306 INFERRED 2305280 RPL21P33 ribosomal protein L21 pseudogene 33 2 2 2 p16.1 60922946 60923511 + 61079355 61079920 + 60852220 60852785 + 19123937 100270953 ABBA01075337;AC010733;AMYH02003915;NG_010539 RPL21_5_222 pseudo HGNC:36686 INFERRED 2305035 RPL21P30 ribosomal protein L21 pseudogene 30 2 2 2 p16.2 54097482 54097867 - 54256624 54257009 - 54029487 54029872 - 19123937 100271157 ABBA01075248;AC008280;AMYH02003838;NG_010278 RPL21_10_219 pseudo HGNC:36091 INFERRED 2305031 RPL21P32 ribosomal protein L21 pseudogene 32 2 2 2 q32.1 180417074 180417539 - 186821314 186821779 - 185956587 185957052 - 19123937 100271161 ABBA01062328;AC097500;AMYH02005401;NG_010300 RPL21_13_305 pseudo HGNC:36978 INFERRED 2305277 RPL21P36 ribosomal protein L21 pseudogene 36 2 2 2 p21 36362668 36363193 - 36526502 36527027 - 36299359 36299884 - 19123937 100270956 ABBA01074956;AC009414;AMYH02003605;NG_010557 RPL21_9_206 pseudo HGNC:36128 INFERRED 2305279 RPL21P34 ribosomal protein L21 pseudogene 34 2 2 2 q21 122281648 122282204 + 128975127 128975683 + 128217553 128218109 + 19123937 100270954 ABBA01040177;AC017079;AMYH02004748;NG_010548 RPL21_6_274 pseudo HGNC:36529 INFERRED 2305497 RPL21P37 ribosomal protein L21 pseudogene 37 2 2 2 p15 62604491 62605003 - 62759677 62760234 - 62532542 62533099 - 19123937;22118674 100129141 ABBA01075389;AC092155;AC107083;AMYH02003945;NG_009700 2128406 RH70013 RPL21_11_229 pseudo HGNC:35704 INFERRED 2305819 RPL21P39 ribosomal protein L21 pseudogene 39 3 3 3 q24 143962844 143963379 - 145542030 145542565 - 145824243 145824778 - 19123937;22118674 389156 ABBA01058989;AC055758;AMYH02007854;NG_009665 RPL21_14_415 pseudo HGNC:36127 INFERRED 1345186 RPL21P4 ribosomal protein L21 pseudogene 4 INTERACTS WITH 5-fluorouracil 17 17 17 q21 37888134 37888689 + 41231278 41231833 + 43079261 43079816 + 6480464 19123937;21989022;8938427 140660 ABBA01006391;AC135721;AMYH02033450;L78833;NG_000980;NG_005905 RPL21_58_1548 pseudo HGNC:17959 INFERRED 2305034 RPL21P40 ribosomal protein L21 pseudogene 40 3 3 3 p22.3 32008237 32008794 + 32071646 32072203 + 32030154 32030711 + 19123937 100271158 ABBA01024947;AC094019;AMYH02006489;NG_010284 RPL21_10_356 pseudo HGNC:36189 INFERRED 2305033 RPL21P41 ribosomal protein L21 pseudogene 41 3 3 3 p14.1 66633402 66633795 + 66687573 66687966 + 66637149 66637542 + 19123937 100271159 ABBA01030868;AC104440;AMYH02006987;NG_010291 RPL21_11_380 pseudo HGNC:36765 INFERRED 2305030 RPL21P42 ribosomal protein L21 pseudogene 42 3 3 3 q25.2 152159104 152159645 + 153741585 153742126 + 154023796 154024337 + 19123937 100271162 ABBA01058873;AC068985;AMYH02007938;NG_010306 RPL21_13_421 pseudo HGNC:37017 INFERRED 2305029 RPL21P43 ribosomal protein L21 pseudogene 43 3 3 3 q26.2 166974931 166975481 - 168576410 168576960 - 168858622 168859172 - 19123937 100271163 ABBA01058718;AC092954;AMYH02008094;NG_010312 RPL21_15_434 pseudo HGNC:36008 INFERRED 2305683 RPL21P45 ribosomal protein L21 pseudogene 45 4 4 4 p14 38263100 38263657 + 37822943 37823500 + 37821321 37821878 + 19123937;22118674 727821 ABBA01074312;AC108022;AMYH02009031;NG_009653 RPL21_15_469 pseudo HGNC:35983 INFERRED 2304628 RPL21P46 ribosomal protein L21 pseudogene 46 4 4 4 p15.31 20272236 20272772 + 19815356 19815892 + 19813733 19814269 + 19123937;22118674 645174 ABBA01032637;AC114728;AMYH02008848;NG_009673 RPL21_14_463 pseudo HGNC:35687 INFERRED 1605778 RPL21P44 ribosomal protein L21 pseudogene 44 INTERACTS WITH cadmium atom 4 4 4 q12 52350859 52352639 - 54851653 54853449 - 53985486 53987282 - 6480464 12477932;17207965;19123937 402176 ABBA01003395;AC110792;AMYH02009225;BC057822;NR_027153 ADQ33023 Hs.452943 5015747 D11S4359 RPL21_17_477 pseudo HGNC:33820 17396 VALIDATED 2305028 RPL21P47 ribosomal protein L21 pseudogene 47 4 4 4 q13.1 60572081 60572557 + 63114012 63114488 + 62248294 62248770 + 19123937 100271164 ABBA01022837;AC105313;AMYH02009328;NG_010317 RPL21_16_486 pseudo HGNC:36711 INFERRED 2305027 RPL21P48 ribosomal protein L21 pseudogene 48 4 4 4 q23 96625072 96625618 + 99330401 99330947 + 98409250 98409796 + 19123937 100271165 ABBA01063655;AC058823;AMYH02009787;NG_010321 RPL21_17_503 pseudo HGNC:35891 INFERRED 2305026 RPL21P49 ribosomal protein L21 pseudogene 49 4 4 4 q24 100883006 100883541 + 103583738 103584273 + 102662581 102663116 + 19123937 100271166 ABBA01063702;AF213884;AMYH02009818;NG_011346;NG_012804 1726383 G62492 RPL21_18_504 pseudo HGNC:35769 INFERRED 2305025 RPL21P50 ribosomal protein L21 pseudogene 50 4 4 4 q28.1 122049362 122049916 - 124666868 124667422 - 123745713 123746267 - 19123937 100271167 ABBA01044759;AC096732;AMYH02010030;NG_010331 RPL21_18_516 pseudo HGNC:36433 INFERRED 2305023 RPL21P51 ribosomal protein L21 pseudogene 51 4 4 4 q32.3 163265571 163266130 - 165933478 165934037 - 165012326 165012885 - 19123937 100271169 ABBA01070289;AC106872;AMYH02010436;NG_010345 RPL21_20_533 pseudo HGNC:36081 INFERRED 2303329 RPL21P5 ribosomal protein L21 pseudogene 5 14 14 14 q12 11446249 11446979 - 31580759 31581489 - 31111553 31112283 - 641613 ABBA01061412;AL121808;AMYH02028949;NG_009393 pseudo HGNC:23541 INFERRED 2305787 RPL21P52 ribosomal protein L21 pseudogene 52 4 4 4 p12 47942127 47942684 - 47492963 47493520 - 47490946 47491503 - 19123937 100128351 ABBA01014336;AC107398;AMYH02009161;NG_009687 RPL21_16_474 pseudo HGNC:36621 INFERRED 2305797 RPL21P53 ribosomal protein L21 pseudogene 53 4 4 4 q28.1 126112779 126113345 - 128733829 128734395 - 127812674 127813240 - 19123937;22118674 653156 ABBA01044794;AC093591;AMYH02010070;NG_010520 RPL21_19_517 pseudo HGNC:36574 INFERRED 2305024 RPL21P54 ribosomal protein L21 pseudogene 54 5 5 5 p13.2 34765414 34765856 + 34883182 34883624 + 34883077 34883519 + 19123937 100271168 ABBA01039264;AC026801;AMYH02011153;NG_010337 RPL21_19_553 pseudo HGNC:35552 INFERRED 2305529 RPL21P38 ribosomal protein L21 pseudogene 38 2 2 2 q31.1 166060122 166060678 + 172443560 172444116 + 171587050 171587606 + 19123937 100131481 ABBA01020727;AC064826;AMYH02005224;NG_010810 RPL21_7_292 pseudo HGNC:36349 INFERRED 2305022 RPL21P55 ribosomal protein L21 pseudogene 55 5 5 5 q12.3 63902603 63903150 + 66904441 66904988 + 67608613 67609160 + 19123937 100271170 ABBA01048304;AC112206;AMYH02011451;NG_010351 RPL21_20_571 pseudo HGNC:36434 INFERRED 2305021 RPL21P56 ribosomal protein L21 pseudogene 56 5 5 5 p13.3 31720787 31721331 - 31840563 31841107 - 31840457 31841001 - 19123937 100271171 ABBA01066724;AC010469;AMYH02011116;NG_010357;NG_033962 RPL21_21_549 pseudo HGNC:35525 INFERRED 2305019 RPL21P58 ribosomal protein L21 pseudogene 58 5 5 5 q23.1 114836526 114837072 - 118882794 118883340 - 119547099 119547645 - 19123937 100271173 ABBA01068976;AC010409;AMYH02012059;NG_010365 RPL21_22_606 pseudo HGNC:35755 INFERRED 2305020 RPL21P57 ribosomal protein L21 pseudogene 57 5 5 5 q33.2 150185736 150186258 + 154108749 154109271 + 154729189 154729711 + 19123937 100271172 ABBA01026229;AC008379;AMYH02012509;NG_010361 RPL21_21_631 pseudo HGNC:36644 INFERRED 2305018 RPL21P59 ribosomal protein L21 pseudogene 59 5 5 5 q34 161369881 161370434 + 165332089 165332642 + 165905084 165905637 + 19123937 100271174 ABBA01044169;AC008489;AMYH02012663;NG_010369 1785348;1853063 AFMA119VG5;SHGC-112065 RPL21_22_635 pseudo HGNC:36922 INFERRED 2303345 RPL21P6 ribosomal protein L21 pseudogene 6 14 14 14 q22.3 35929644 35930206 - 55880258 55880820 - 55413540 55414102 - 19123937 652975 ABBA01018207;AL356801;AMYH02029239;NG_009398 RPL21_47_1368 pseudo HGNC:23542 INFERRED 2305017 RPL21P60 ribosomal protein L21 pseudogene 60 5 5 5 q35.3 171809040 171809588 - 176691727 176692275 + 177264726 177265274 + 19123937 100271175 ABBA01033461;AC146507;AMYH02012832;NG_010381 RPL21_23_641 pseudo HGNC:36044 INFERRED 2304631 RPL21P61 ribosomal protein L21 pseudogene 61 6 6 6 p22.3 20382300 20382842 + 19143884 19144426 + 19143653 19144195 + 19123937 645157 ABBA01022242;AL589647;AMYH02013236;NG_009666 1739697;2151205;2175505 D12S1486;U27136;WI-4990 RPL21_24_663 pseudo HGNC:36712 INFERRED 2305731 RPL21P62 ribosomal protein L21 pseudogene 62 6 6 6 p24.3 11442411 11442963 - 10214083 10214635 - 10213850 10214402 - 19123937 442160 ABBA01022075;AL354868;AMYH02013091;NG_009672 RPL21_23_656 pseudo HGNC:36843 INFERRED 2305016 RPL21P63 ribosomal protein L21 pseudogene 63 6 6 6 p24.2 11803446 11803973 - 10574945 10575472 - 10574712 10575239 - 19123937 100271176 ABBA01022080;AL139039;AMYH02013098;NG_010385 RPL21_24_657 pseudo HGNC:35526 INFERRED 2305278 RPL21P35 ribosomal protein L21 pseudogene 35 2 2 2 q37.1 226200942 226201490 + 232424559 232425108 + 231559848 231560397 + 19123937 100270955 ABBA01002056;AC104634;AMYH02005972;NG_010553 RPL21_8_333 pseudo HGNC:36900 INFERRED 2305014 RPL21P65 ribosomal protein L21 pseudogene 65 6 6 6 q21 107711209 107711748 + 107090295 107090834 + 106642420 106642959 + 19123937 100271178 ABBA01026193;AL390074;AMYH02014244;NG_010397 RPL21_26_729 pseudo HGNC:36017 INFERRED 2305015 RPL21P64 ribosomal protein L21 pseudogene 64 6 6 6 q22.33 129706621 129707086 - 128960333 128960798 - 128639188 128639653 - 19123937 100271177 ABBA01025919;AL080315;AMYH02014460;NG_010391 RPL21_25_752 pseudo HGNC:36259 INFERRED 2305013 RPL21P66 ribosomal protein L21 pseudogene 66 6 6 6 q23 133586787 133587307 - 132839949 132840470 - 132518810 132519331 - 19123937 100271179 ABBA01025878;AL513524;AMYH02014501;NG_010401 RPL21_26_756 pseudo HGNC:36476 INFERRED 2304390 RPL21P68 ribosomal protein L21 pseudogene 68 6 6 6 p22.2 26488709 26489268 + 25261427 25261986 + 25261199 25261758 + 19123937 645452 ABBA01066544;AL024509;AMYH02013337;NG_010409 RPL21_25_668 pseudo HGNC:35720 INFERRED 2305012 RPL21P67 ribosomal protein L21 pseudogene 67 6 6 6 q23.2 132536788 132537337 + 131790159 131790708 + 131469019 131469568 + 19123937 100271180 ABBA01025892;AL445249;AMYH02014491;NG_010407 RPL21_27_754 pseudo HGNC:36139 INFERRED 2304634 RPL21P69 ribosomal protein L21 pseudogene 69 6 6 6 q25.3 160594237 160594792 - 159947046 159947599 - 159526014 159526567 - 19123937;22118674 642738 ABBA01021068;AL078604;AMYH02014865;NG_009725 RPL21_27_774 pseudo HGNC:36753 INFERRED 1346724 RPL21P7 ribosomal protein L21 pseudogene 7 14 14 14 q23.3 45787887 45788993 - 65733321 65734450 - 65266603 65267732 - 11181995;23349771 145370 ABBA01018384;AL355076;AL359236;AMYH02029372;CH471061;NG_002487 EAW80907 pseudo HGNC:19772 INFERRED 2305614 RPL21P70 ribosomal protein L21 pseudogene 70 2 2 2 p23.1 31356748 31357201 + 31514048 31514500 + 31291182 31291634 + 19123937 646489 ABBA01074852;AL121657;AMYH02003525;NG_011366 1334601;1847517;7185153 D2S1801;D2S352 RPL21_4_205 pseudo HGNC:37024 INFERRED 2305791 RPL21P71 ribosomal protein L21 pseudogene 71 3 3 3 q24 145406995 145407555 + 146994514 146995074 + 147276727 147277287 + 19123937 729962 ABBA01058971;AC092957;AMYH02007862;NG_011368 RPL21_12_416 pseudo HGNC:36049 INFERRED 2305011 RPL21P72 ribosomal protein L21 pseudogene 72 7 7 7 p22.2 3346231 3346772 + 3377717 3378258 + 3338085 3338626 + 19123937 100271181 ABBA01039403;AC092427;AMYH02015096;CH236953;NG_010413 RPL21_28_779 pseudo HGNC:37043 INFERRED 2305008 RPL21P74 ribosomal protein L21 pseudogene 74 7 7 7 q21.3 90612692 90613232 + 95912625 95913165 + 96283313 96283853 + 19123937 100271184 ABBA01045771;AC096775;AMYH02016302;CH236949;NG_010429 RPL21_30_821 pseudo HGNC:35854 INFERRED 2305010 RPL21P73 ribosomal protein L21 pseudogene 73 7 7 7 q34 133068639 133068977 - 138330855 138331193 - 138646110 138646448 - 19123937 100271182 ABBA01001171;AC013429;AMYH02016870;CH236950;NG_010418 RPL21_28_856 pseudo HGNC:36794 INFERRED 2305354 RPL21P75 ribosomal protein L21 pseudogene 75 7 7 7 p21.1 20026595 20027162 + 20042348 20042915 + 20002725 20003292 + 19123937;9847074 728501 ABBA01056664;AC005062;AMYH02015329;CH236948;NG_006559 RPL21_29_789 pseudo HGNC:36460 INFERRED 2304415 RPL21P76 ribosomal protein L21 pseudogene 76 7 7 7 q36.3 152944964 152945495 + 158512363 158512894 + 158719672 158720203 + 12690205;19123937 645373 ABBA01032311;AC019084;AMYH02017185;CH236954;NG_005567 EAL23930 2112296;2112298 D8S2266;D8S2267 RPL21_31_868 pseudo HGNC:37042 INFERRED 2305009 RPL21P77 ribosomal protein L21 pseudogene 77 8 8 8 p21.3 21209084 21209505 - 22247378 22247799 - 22389865 22390286 - 19123937 100271183 ABBA01005514;AC105910;AMYH02017593;NG_010422 1341270 D8S439 RPL21_29_883 pseudo HGNC:36186 INFERRED 2305007 RPL21P78 ribosomal protein L21 pseudogene 78 8 8 8 q24 130192125 130192663 - 134014822 134015360 - 133002577 133003115 - 19123937 100271185 ABBA01014202;AF305872;AMYH02018810;NG_010433;NG_015832 RPL21_30_950 pseudo HGNC:35917 INFERRED 2305004 RPL21P79 ribosomal protein L21 pseudogene 79 8 8 8 q11.23 50436607 50437060 + 54445845 54446298 + 53533285 53533738 + 19123937 100271188 ABBA01041718;AC022034;AMYH02017988;NG_010445 RPL21_33_903 pseudo HGNC:36931 INFERRED 2305744 RPL21P80 ribosomal protein L21 pseudogene 80 8 8 8 p12 33681266 33681826 + 34731638 34732198 + 34874120 34874680 + 19123937;22118674 100133273 ABBA01023589;AC087343;AMYH02017780;NG_009717 RPL21_32_892 pseudo HGNC:35697 INFERRED 2304497 RPL21P82 ribosomal protein L21 pseudogene 82 9 9 9 q22.31 65204614 65205167 + 94768306 94768859 + 92006024 92006577 + 19123937 650059 ABBA01018581;AL391219;AMYH02021216;NG_009681 RPL21_34_997 pseudo HGNC:36307 INFERRED 1346425 RPL21P8 ribosomal protein L21 pseudogene 8 14 14 14 q23.3 45989596 45990206 - 65934492 65935102 - 65467774 65468384 - 19123937 319145 ABBA01018393;AL355840;AMYH02029379;NG_002521 RPL21_48_1381 pseudo HGNC:19779 INFERRED 2305006 RPL21P83 ribosomal protein L21 pseudogene 83 9 9 9 p13.2 37423620 37424164 - 37490386 37490930 - 37490389 37490933 - 19123937 100271186 ABBA01050394;AL158156;AMYH02019496;NG_010437 RPL21_31_978 pseudo HGNC:35864 INFERRED 2305005 RPL21P84 ribosomal protein L21 pseudogene 84 9 9 9 q21.2 51372382 51372898 - 80795096 80795609 - 78180180 78180693 - 19123937 100271187 ABBA01033943;AL353705;AMYH02021047;NG_010439 RPL21_32_987 pseudo HGNC:36612 INFERRED 2305003 RPL21P85 ribosomal protein L21 pseudogene 85 9 9 9 q22.1-q22.3 61675996 61676465 - 91099767 91100236 - 88484852 88485321 - 19123937 100271189 ABBA01016518;AL353748;AMYH02021180;NG_010449 RPL21_33_996 pseudo HGNC:35694 INFERRED 2305002 RPL21P86 ribosomal protein L21 pseudogene 86 9 9 9 q22.31 65881230 65881780 - 95439179 95439729 - 92676897 92677447 - 19123937 100271190 ABBA01018592;AL137074;AMYH02021225;NG_010452 RPL21_34_998 pseudo HGNC:37032 INFERRED 2304711 RPL21P88 ribosomal protein L21 pseudogene 88 10 10 10 q11.21 40130036 40130503 + 44126395 44126862 + 43630947 43631414 + 19123937 100271421 ABBA01050012;AL645634;AMYH02022716;NG_010322 1339697;1646456;2169473 D10S1669;D10S2221;WI-16015 RPL21_36_1036 pseudo HGNC:35714 INFERRED 2304710 RPL21P89 ribosomal protein L21 pseudogene 89 10 10 10 q11.23 44609685 44610225 + 51023104 51023644 + 49815058 49815598 + 19123937 100271422 ABBA01041066;AC069546;AMYH02022990;NG_010325 2113940 AB048993 RPL21_37_1041 pseudo HGNC:36474 INFERRED 1343107 RPL21P9 ribosomal protein L21 pseudogene 9 14 14 14 q24.1 48240264 48240984 + 68181222 68181942 + 67714505 67715225 + 283562 ABBA01023707;AL049779;AMYH02029404;NG_002491;NG_008321 pseudo HGNC:19780 INFERRED 2304709 RPL21P90 ribosomal protein L21 pseudogene 90 10 10 10 q23.33 91500701 91501253 - 97759491 97760043 - 95999734 96000286 - 19123937 100271423 ABBA01021832;AL513355;AMYH02023584;NG_010332 RPL21_37_1084 pseudo HGNC:35548 INFERRED 2304708 RPL21P91 ribosomal protein L21 pseudogene 91 10 10 10 q25.1 105305217 105305773 + 111567369 111567925 + 109807611 109808167 + 19123937 100271424 ABBA01063040;AL354951;AMYH02023787;NG_010338 RPL21_39_1094 pseudo HGNC:36450 INFERRED 2305452 RPL21P87 ribosomal protein L21 pseudogene 87 9 9 9 q31.3 83288782 83289339 - 112787121 112787678 - 110024841 110025398 - 19123937;22118674 100131672 ABBA01042752;AL158823;AMYH02021446;NG_010463 RPL21_35_1007 pseudo HGNC:36411 INFERRED 2305898 RPL21P92 ribosomal protein L21 pseudogene 92 10 10 10 q21.3 62828353 62828903 + 69553487 69554037 + 67793729 67794279 + 19123937 100130400 ABBA01019548;AL133551;AMYH02023242;NG_009689 RPL21_38_1051 pseudo HGNC:35606 INFERRED 2305611 RPL21P93 ribosomal protein L21 pseudogene 93 10 10 10 p12.1 28953531 28954105 - 29187879 29188453 - 28898950 28899524 - 19123937;22118674 653665 ABBA01034371;AL390248;AMYH02022543;NG_010505 RPL21_36_1027 pseudo HGNC:35646 INFERRED 2304707 RPL21P94 ribosomal protein L21 pseudogene 94 11 11 11 p15 6826176 6826741 - 6707077 6707642 - 6685846 6686411 - 19123937 100271425 ABBA01028671;AC091564;AMYH02024272;NG_010346 2174733 SGC30555 RPL21_39_1117 pseudo HGNC:35568 INFERRED 2304705 RPL21P96 ribosomal protein L21 pseudogene 96 11 11 11 q22.3 100077448 100077984 + 102915932 102916468 + 103045203 103045739 + 19123937 100271428 ABBA01039928;AMYH02025492;AP001486;NG_010362 RPL21_41_1169 pseudo HGNC:36790 INFERRED 2305379 RPL21P97 ribosomal protein L21 pseudogene 97 11 11 11 p15.4 9803367 9803928 + 9681942 9682503 + 9660395 9660956 + 12477932;17353931;19123937;22118674 387753 ABBA01061167;AC011979;AMYH02024321;NG_010883 RPL21_40_1120 pseudo HGNC:36223 INFERRED 2304706 RPL21P95 ribosomal protein L21 pseudogene 95 11 11 11 q14.1 74888225 74888764 - 77579742 77580281 - 77868696 77869235 - 19123937 100271427 ABBA01017417;AMYH02025144;AP002812;NG_010358 RPL21_40_1159 pseudo HGNC:36097 INFERRED 2305836 RPL21P98 ribosomal protein L21 pseudogene 98 12 12 12 q21.2 76719829 76720393 + 77054145 77054708 + 76660365 76660928 + 19123937;22118674 653079 ABBA01053543;AC107032;AMYH02026786;NG_009659 RPL21_47_1259 pseudo HGNC:36397 INFERRED 2304704 RPL21P99 ribosomal protein L21 pseudogene 99 12 12 12 p11.22 34956675 34957174 - 29811274 29811773 - 29658341 29658840 - 19123937 100271429 ABBA01068077;AC009510;AMYH02026262;NG_010366 1661861 D12S1457 RPL21_41_1222 pseudo HGNC:36628 INFERRED 2305753 RPL22P10 ribosomal protein L22 pseudogene 10 2 2 2 q12.2 101064269 101064641 + 106863827 106864199 + 106247371 106247743 + 19123937 100128408 ABBA01073842;AC092106;AMYH02004491;NG_010803 RPL22_3_253 pseudo HGNC:36559 INFERRED 1342840 RPL22P1 ribosomal protein L22 pseudogene 1 3 3 3 q26.2 167600209 167600611 - 169201406 169201808 - 169483618 169484020 - 19123937;7533526;8395054 125371 ABBA01058710;AC074033;AMYH02008098;NG_009515;NG_028279 1644247;5127666 D15S1165;SHGC-2494 RPL22_5_435 pseudo HGNC:17998 INFERRED 1602286 RPL22L1 ribosomal protein L22-like 1 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN ribosome (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 3 3 3 q26.2 168982460 168987841 - 170582664 170588045 - 170864875 170870256 - 6480464 12477932;15489334;19615732;20379614;21145461;21890473;21906983;22145905;23000965;8076819 200916 C9JYQ9;F8WDK8;H0Y8C2;Q5JWX6;Q6P5R6 ABBA01058671;AC061708;AL110170;AMYH02008127;BC062731;BC107708;BM451642;CA449264;CH471052;NM_001099645;XM_005247205 AAH62731;AAI07709;CAI46223;EAW78503;NP_001093115;Q6P5R6;XP_005247262 Hs.380933 MGC104449 60S ribosomal protein L22-like 1;OTTHUMP00000213695;OTTHUMP00000213697;OTTHUMP00000213738;OTTHUMP00000213739;OTTHUMP00000213740 protein-coding ENSG00000163584 HGNC:27610 VALIDATED 2305370 RPL22P11 ribosomal protein L22 pseudogene 11 INTERACTS WITH 3,3',5-triiodo-L-thyronine 2 2 2 q13 104663024 104664117 - 110493086 110495119 - 109735509 109737542 - 6480464 19123937 402100 ABBA01008995;AC011753;AC074387;AC109815;AMYH02004524;NG_010573 RPL22P15;RPL22P9;RPL22_3_260;RPL22_5_261 pseudo HGNC:35603 INFERRED 2305719 RPL22P12 ribosomal protein L22 pseudogene 12 2 2 2 q13 105041892 105042696 + 111391269 111392074 + 110633692 110634497 + 19123937 727747 ABBA01001561;AC114776;AC226101;AMYH02004567;NG_011008 RPL22_6_262 pseudo HGNC:36345 INFERRED 2305733 RPL22P13 ribosomal protein L22 pseudogene 13 4 4 4 q12 52588038 52588387 + 55087290 55087639 + 54221123 54221472 + 19123937;22144915;23401653 442108 ABBA01003401;AC138779;AMYH02009229;NG_011308 RPL22_7_478 pseudo HGNC:36352 INFERRED 2304501 RPL22P15 ribosomal protein L22 pseudogene 15 q13 19123937 645231 AC074387;AC109815;CR590757;NG_010573 RPL22P9;RPL22_5_261 pseudo HGNC:36182 2305275 RPL22P16 ribosomal protein L22 pseudogene 16 7 7 7 p22.1 4864149 4864521 - 4905061 4905433 - 4865430 4865802 - 19123937 100270959 ABBA01039432;AC092610;AMYH02015122;NG_010570 RPL22_6_780 pseudo HGNC:36536 INFERRED 2304887 RPL22P17 ribosomal protein L22 pseudogene 17 10 10 10 q24.3 98387840 98388212 - 104647599 104647971 - 102887842 102888214 - 19123937 100271289 ABBA01063131;AL358790;AMYH02023712;NG_010956 RPL22_7_1091 pseudo HGNC:36985 INFERRED 2304764 RPL21P81 ribosomal protein L21 pseudogene 81 9 9 9 q34 106756331 106756803 + 136205787 136206335 + 133338950 133339498 + 19123937 100271389 ABBA01032461;AC002107;AL158826;AL772161;AMYH02021826;NG_029331 RPL21_35_1017 pseudo HGNC:35530 INFERRED 2304886 RPL22P18 ribosomal protein L22 pseudogene 18 10 10 10 q23 75876635 75877008 + 81885697 81886070 + 80125941 80126314 + 19123937 100271290 ABBA01003810;AL356095;AMYH02023415;NG_010959 RPL22_9_1070 pseudo HGNC:36232 INFERRED 2305623 RPL22P19 ribosomal protein L22 pseudogene 19 12 12 12 q24.31 125021311 125021697 - 125420026 125420411 - 124935480 124935865 - 19123937 644022 ABBA01060359;AC093719;AMYH02027479;NG_010946 RPL22_8_1294 pseudo HGNC:36567 INFERRED 1352841 RPL22P2 ribosomal protein L22 pseudogene 2 14 14 14 q24.3 57391237 57391692 - 77352663 77353118 - 76886320 76886775 - 19123937 326292 ABBA01030669;AF111169;AMYH02029558;NG_002544 RPL22_9_1393 pseudo HGNC:19794 INFERRED 2305713 RPL22P22 ribosomal protein L22 pseudogene 22 X X X q21.1 81999136 81999514 - 81761883 81762261 - 82506434 82506812 - 19123937 100130922 ABBA01041467;AL031313;AMYH02039863;NG_010552 RPL22_10_1790 pseudo HGNC:36109 INFERRED 2305673 RPL22P20 ribosomal protein L22 pseudogene 20 14 14 q11.2 19468509 19468885 + 18692032 18692408 + 19123937 100128664 ABBA01007686;AMYH02028781;CR383656;NG_010804 RPL22_10_1337 pseudo HGNC:36281 INFERRED 2304681 RPL22P21 ribosomal protein L22 pseudogene 21 17 17 17 p12 15890372 15890710 + 15987354 15987692 + 16084040 16084378 + 19123937 100271455 ABBA01035662;AC002553;AMYH02033065;NG_010494 RPL22_11_1520 pseudo HGNC:35547 INFERRED 2305905 RPL22P3 ribosomal protein L22 pseudogene 3 1 1 1 p36.13 15175514 15175972 - 16695588 16696046 - 16369093 16369551 - 11181995;19123937 729662 ABBA01004671;AC244454;AL358794;CH471167;NG_006651 EAW51776 1732976 D1S1357 RPL22_1_15 pseudo HGNC:36804 INFERRED 2305498 RPL22P4 ribosomal protein L22 pseudogene 4 1 1 1 q32.1 179266447 179266564 - 206180054 206180443 + 206160887 206161276 - 19123937 100129102 ABBA01001841;AC244035;BX571818;NG_010420 RPL22_2_154 pseudo HGNC:36299 INFERRED 2304477 RPL22P5 ribosomal protein L22 pseudogene 5 1 1 1 q21.2 179266447 179266564 - 149424565 149424954 - 143929993 143930382 - 19123937 100132479 AC246680;AL109948;NG_010661 RPL22_2_96 pseudo HGNC:37022 INFERRED 2304967 RPL22P6 ribosomal protein L22 pseudogene 6 1 1 1 p11.2 179266447 179266564 - 120880883 120881272 + 121142049 121142438 - 19123937 100132047 AC244453;AL357493;NG_011077 RPL22_1_94 pseudo HGNC:36473 INFERRED 2304735 RPL22P7 ribosomal protein L22 pseudogene 7 2 2 2 q21.1 124008272 124008641 - 130697421 130697790 - 129939848 129940217 - 19123937 100129819 ABBA01040142;AC079776;AMYH02004770;NG_010140 RPL22_4_275 pseudo HGNC:35602 INFERRED 2305276 RPL22P8 ribosomal protein L22 pseudogene 8 2 2 q12 108531366 108531751 + 107914910 107915295 + 19123937 100270957 ABBA01000750;AC009963;AMYH02004504;NG_010562 RPL22_4_256 pseudo HGNC:36782 INFERRED 1343228 RPL23AP1 ribosomal protein L23a pseudogene 1 INTERACTS WITH 5-fluorouracil 6 6 6 p21.3 31297838 31298360 - 29694409 29694931 - 29726632 29727154 - 6480464 19123937;8662070 6148 ABBA01038036;AL022723;AL645939;AL669813;AL844851;AMYH02013419;BX005428;BX927250;CR753818;NG_001027;NG_012009 1654334;2146916;2220084;2220314 D6S2866;HLA-F;RH71004;STS-R00280 RPL23A_15_676;dJ377H14.8 pseudo HGNC:10318 INFERRED 1350361 RPL23AP11 ribosomal protein L23a pseudogene 11 14 14 14 q32.31 83182662 83183197 - 103128530 103129065 - 102662193 102662728 - 19123937 326294 ABBA01048459;AL132801;AMYH02029904;NG_002546 RPL23A_29_1408 pseudo HGNC:19808 INFERRED 1352946 RPL23AP10 ribosomal protein L23a pseudogene 10 14 14 14 q32.2 76978601 76979125 - 96922866 96923390 - 96456529 96457053 - 19123937 326293 ABBA01048592;AL359240;AMYH02029805;NG_002545 RPL23A_28_1405 pseudo HGNC:19804 INFERRED 1346230 RPL23AP12 ribosomal protein L23a pseudogene 12 21 21 21 q22.2 25697234 25697755 + 40499481 40500002 + 39127555 39128076 + 19123937 391282 ABBA01009348;AF064859;AMYH02037824;NG_009514 1821674;1828480;1831296;1834180;1896982;1896984;1896986;1896988;1896990;1896992;1896994;1896996;1896998;1897000;1897002;1897004;2202806 ECD11923;ECD15367;ECD16784;ECD18238;REN19281;REN19282;REN19283;REN19284;REN19285;REN19286;REN19287;REN19288;REN19289;REN19290;REN19291;REN19292;stSG622550 RPL23A_41_1732 pseudo HGNC:23840 INFERRED 1354324 RPL23 ribosomal protein L23 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL17 because the encoded protein shares amino acid identity with ribosomal protein L17 from Saccharomyces cerevisiae; however, its official symbol is RPL23. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 17 17 17 q 33667292 33671022 - 37006321 37010053 - 38850068 38853800 - 6480464;6484113 11875025;12477932;12777385;12962325;14567916;15149863;15189156;15308643;15314173;15314174;15489334;15592455;16189514;16196087;17110929;17116689;18029348;18214993;18274552;18457437;1861993;1874450;19160485;19167051;19380743;19410547;19738201;19946888;20016921;20020773;20434207;20547751;20936779;20972266;21045808;21139048;21145461;21319273;21726808;21832049;21853274;21890473;21906983;21963094;21987572;21988832;22053931;22145905;22174317;22268729;22505724;22580751;22623428;22810585;22863883;22939629;22944692;23000965;23160375;23169665;23184937;23246001;23398456;23438482;23443559;23455922;23933826;24337577;24457600;24816145;8722009;9114010;9582194 9349 B9ZVP7;C9JD32;J3KT29;J3KTJ3;J3QQT9;P62829 AB061827;ABBA01031895;AC110749;AK024749;AMYH02033366;BC003518;BC010114;BC034378;BC062716;BC104651;BC106061;CA437923;CH471152;NM_000978;X52839;X55954 AAH03518;AAH10114;AAH62716;AAI04652;AAI06062;ABM84144;ABM87546;BAB79465;CAA37023;CAA39417;EAW60539;EAW60540;EAW60541;EAW60542;NP_000969;P62829 Hs.406300 1660473;1775414 D17S2026;RH65811 L23;MGC111167;MGC117346;MGC72008;rpL17 60S ribosomal protein L17;60S ribosomal protein L23;OTTHUMP00000164151;OTTHUMP00000164153;ribosomal protein L17 APPROVED protein-coding HGNC:10316 04716 603662 REVIEWED 1312599 RPL23A ribosomal protein L23a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L23P family of ribosomal proteins. It is located in the cytoplasm. The protein may be one of the target molecules involved in mediating growth inhibition by interferon. In yeast, the corresponding protein binds to a specific site on the 26S rRNA. This gene is co-transcribed with the U42A, U42B, U101A, and U101B small nucleolar RNA genes, which are located in its third, first, second, and fourth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 23906165 23910537 + 27047000 27051374 + 28719982 28724356 + 6480464 11129635;11401437;11682607;11790298;12477932;12777385;12962325;14567916;15189156;15342556;15489334;16196087;17081983;17353931;17361185;19596686;19738201;20020773;20639865;21045808;21048991;21139048;21145461;21182205;21319273;21853274;21890473;21906983;21963094;21988832;22053931;22145905;22178446;22354994;22505724;22586326;22623428;22751105;22863883;22939629;23000965;23246001;23398456;23443559;23455922;23463506;23862649;23874603;24244333;24457600;24816145;8662070;8722009;9053844;9417910;9687515 6147 A8MUS3;H7BY10;K7EJV9;K7EMA7;K7ERT8;P62750 ABBA01015048;AC010761;AF001689;AK130965;AK312123;AMYH02033227;AW044310;BC014459;BC058041;BE464375;BE731473;BG476195;BP382007;CH471159;L13799;NM_000984;U02032;U37230;U43701 AAA03341;AAA35681;AAB03210;AAB17510;AAC51934;AAH14459;AAH58041;BAG35059;EAW51131;EAW51132;NP_000975;P62750 Hs.419463 1690748;2147850;2175895;5014311;5022651;5024651;5024683;5113809;5125688 D10S2200;D11S2921;G28287;REN95794;RH47143;RH66779;RH68413;RH78645;SHGC-56895 FLJ27455;L23A;MDA20 60S ribosomal protein L23a;OTTHUMP00000163536;OTTHUMP00000163537;OTTHUMP00000163539;melanoma differentiation-associated gene 20 APPROVED protein-coding HGNC:10317 15998 602326 REVIEWED 1625834 RPL23AP14 ribosomal protein L23a pseudogene 14 12 12 12 p13.33 4504985 4505511 + 2891060 2891586 + 2781894 2782420 + 11181995;19123937 341511 ABBA01048801;AC005841;AMYH02025885;CH471116;NG_006075 EAW88891 RPL23A_29_1192 pseudo HGNC:21007 INFERRED 2305274 RPL22P14 ribosomal protein L22 pseudogene 14 6 6 6 q15 91006788 91007155 + 90586230 90586597 + 89876511 89876878 + 19123937 100270960 ABBA01040543;AL353692;AMYH02014093;NG_010576 RPL22_8_723 pseudo HGNC:35990 INFERRED 2304364 RPL23AP15 ribosomal protein L23a pseudogene 15 1 1 1 q42.13 201826752 201827205 - 228636869 228637322 - 228449168 228449621 - 19123937 391175 ABBA01005836;AL139288;AMYH02002845;NG_006072 RPL23A_4_173 pseudo HGNC:36486 INFERRED 2304982 RPL23AP16 ribosomal protein L23a pseudogene 16 1 1 1 q32.1 172463630 172464040 + 199341004 199341414 + 199371876 199372286 + 19123937 647201 ABBA01027571;AC099335;AMYH02002448;NG_009787 1337162;1654173;1752567;1757591;1779950;1956972;2133007;2157889 AL009515;D1S1704;D1S1726;D1S3732;REN49353;SHGC-106478;SHGC-145055;SHGC-154194 RPL23A_4_145 pseudo HGNC:36652 INFERRED 2305054 RPL23AP17 ribosomal protein L23a pseudogene 17 1 1 1 p34 39847268 39847763 + 41564310 41564805 + 41098638 41099133 + 19123937 100271138 ABBA01023154;AL110502;AMYH02000865;NG_010181 RPL23A_3_37 pseudo HGNC:35904 INFERRED 2305573 RPL23AP18 ribosomal protein L23a pseudogene 18 1 1 1 q32.3 185707986 185708453 - 212482393 212482860 - 212309051 212309518 - 19123937 728134 ABBA01048182;AL360091;AMYH02002639;NG_006077 RPL23A_3_161 pseudo HGNC:36726 INFERRED 2305644 RPL23AP19 ribosomal protein L23a pseudogene 19 1 1 1 p36.23 7999809 8000180 + 8891066 8891437 + 8831007 8831378 + 19123937 100131143 ABBA01035523;AL354930;AL357552;AMYH02000221;NG_009753 RPL23A_2_8 pseudo HGNC:36708 INFERRED 1342571 RPL23AP2 ribosomal protein L23a pseudogene 2 19 19 19 p13.12 15619309 15620280 + 15722452 15723420 + 15611641 15612609 + 19123937 401904 ABBA01051120;AD000091;AMYH02035662;NG_006074;NG_008068 2175895 G28287 RPL23A_38_1631 pseudo HGNC:10319 INFERRED 2305463 RPL23AP21 ribosomal protein L23a pseudogene 21 1 1 p36.33 227770 228778 - 258019 259027 - 19123937 728481 AMYH02000036;AP006222;NG_009563 RPL23A_1_1 pseudo HGNC:35827 INFERRED 2305805 RPL23AP20 ribosomal protein L23a pseudogene 20 1 1 1 q43 215334914 215335437 + 242079366 242079889 + 241916064 241916587 + 19123937 645962 ABBA01033259;AL365366;AMYH02003040;BX571673;NG_009606 RPL23A_6_188 pseudo HGNC:36622 INFERRED 2304884 RPL23AP23 ribosomal protein L23a pseudogene 23 1 1 1 q43 208701816 208702286 + 235459182 235459652 + 235295867 235296337 + 19123937 100271292 ABBA01033125;AL391994;AMYH02002941;NG_010968;NG_029484 RPL23A_5_178 pseudo HGNC:36272 INFERRED 2304885 RPL23AP22 ribosomal protein L23a pseudogene 22 1 1 1 q31.2 166838286 166838740 - 193725943 193726397 - 193756813 193757267 - 19123937 100271291 ABBA01027631;AL157837;AMYH02002388;NG_010963 RPL23A_2_142 pseudo HGNC:35505 INFERRED 2305352 RPL23AP24 ribosomal protein L23a pseudogene 24 1 1 p36.33 471014 471268 + 348069 348323 - 19123937 728517 AL732372;NG_011020 RPL23A_1_2 pseudo HGNC:36176 INFERRED 2305851 RPL23AP26 ribosomal protein L23a pseudogene 26 2 2 2 q37.1 226226970 226232036 + 232450575 232455638 + 231585864 231590927 + 19123937 391490 ABBA01002055;AC104634;AMYH02005972;NG_010355 RPL23A_14_334 pseudo HGNC:35592 INFERRED 2304680 RPL23AP27 ribosomal protein L23a pseudogene 27 2 2 2 q12.1 99495911 99496354 + 105294690 105295133 + 104678232 104678675 + 19123937 100271456 ABBA01073877;AC068057;AMYH02004464;NG_010498 RPL23A_10_252 pseudo HGNC:36497 INFERRED 2304679 RPL23AP28 ribosomal protein L23a pseudogene 28 2 2 2 q36.3 216677430 216677899 - 222909244 222909713 - 222044525 222044994 - 19123937;19373437 100271457 ABBA01023820;AC009302;AMYH02005856;NG_010502 RPL23A_10_329 pseudo HGNC:36727 INFERRED 2304677 RPL23AP30 ribosomal protein L23a pseudogene 30 2 2 2 q31.3 195686045 195686545 + 201931414 201931914 + 201066691 201067191 + 19123937 100271459 ABBA01062530;AC007272;AMYH02005545;NG_010512 RPL23A_12_308 pseudo HGNC:35617 INFERRED 2304678 RPL23AP29 ribosomal protein L23a pseudogene 29 2 2 2 q23.3 147841602 147842040 + 154227140 154227578 + 153370626 153371064 + 19123937 100271458 ABBA01004801;AC012501;AMYH02005008;NG_010509 RPL23A_11_287 pseudo HGNC:36355 INFERRED 2304676 RPL23AP31 ribosomal protein L23a pseudogene 31 2 2 2 q33 213474098 213474558 + 219706328 219706788 + 218841605 218842065 + 19123937 100271460 ABBA01023857;AC009974;AMYH02005808;NG_010518 RPL23A_13_326 pseudo HGNC:35777 INFERRED 1604327 RPL23AP32 ribosomal protein L23a pseudogene 32 This locus represents a transcribed pseudogene of ribosomal protein L23a. [provided by RefSeq, Aug 2011] 2 2 2 p16.2 54596623 54597242 + 54756359 54756978 + 54529222 54529841 + 6480464 12477932;19123937 56969 Q53RC5 ABBA01075254;AC092839;AL390140;AMYH02003843;BC067268;BC096706;BC096740;BC098172;NG_029817;NR_002229 AAX93105 Hs.657366;Hs.732136 1734832;5024651;5493197 D2S1586E;RH66779;UniSTS:484714 DKFZp547I014;RPL23A_9_220 APPROVED pseudo HGNC:25345 13209 VALIDATED 2304883 RPL23AP33 ribosomal protein L23a pseudogene 33 2 2 2 q32.1 179362583 179363037 - 185766835 185767289 - 184902108 184902562 - 19123937 100271293 ABBA01062324;AC010747;AMYH02005388;NG_010972 RPL23A_7_304 pseudo HGNC:36946 INFERRED 733560 RPL22 ribosomal protein L22 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22E family of ribosomal proteins. Its initiating methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding to heparin. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2. [provided by RefSeq, Jul 2008] 1 1 1 p36.31 5359593 5374192 - 6245080 6259679 - 6185020 6199619 - 1580863;6480464 10712515;11056215;11401437;11790298;11875025;12477932;12962325;14567916;14702039;15047060;15189156;15489334;15635413;15812220;15840729;16169070;16196087;16556938;16564389;17267499;17620599;18457437;1846807;18624398;18809582;19640998;19738201;20020773;20936779;21139048;21145461;21151833;21182205;21319273;21853274;21890473;21906983;21907836;22145905;22178446;22505724;22623428;22863883;22912744;22939629;22976955;23000965;23127973;23151878;23184937;23246001;23398456;23443559;23455922;23463506;23602568;23797773;24244333;24457600;24816145;25015289;8135813;8722009;9847074 6146 K7EJT5;K7EKS7;K7ELC4;K7EMH1;K7EP65;K7ERI7;P35268 AB046408;AB061849;ABBA01035439;AF113701;AK097075;AK311749;AL031847;AL110153;AMYH02000168;AMYH02000169;BC011829;BC020237;BC032295;BC035566;BC058887;BC066314;BU927988;CA336134;CH471130;CR456873;D17652;NM_000983;X59357 AAH35566;AAH58887;AAH66314;BAA04545;BAB21254;BAB79487;BAG34692;CAA42007;CAG33154;EAW71518;EAW71519;EAW71520;NP_000974;P35268 Hs.515329;Hs.554762 1644247;1664275;1667824;5018931;5024202;5024617;5127038;5127666 160;Cda1cg12;D15S1165;D15S1335;D1S286E;RH17919;SHGC-2494;WI-8550 EAP;HBP15;HBP15/L22;L22 60S ribosomal protein L22;EBER-associated protein;Epstein-Barr virus small RNA-associated protein;Epstein-Barr-encoded RNA-associated protein;OTTHUMP00000001141;heparin-binding protein 15;heparin-binding protein HBp15 APPROVED protein-coding ENSG00000116251 HGNC:10315 01602 180474 REVIEWED 2304882 RPL23AP34 ribosomal protein L23a pseudogene 34 2 2 2 p23.2 28376094 28376503 + 28531028 28531437 + 28308161 28308570 + 19123937 100271294 ABBA01045228;AC093690;AMYH02003493;NG_010979 RPL23A_8_204 pseudo HGNC:36035 INFERRED 2304881 RPL23AP35 ribosomal protein L23a pseudogene 35 2 2 2 q32.1 180721994 180722492 - 187126144 187126642 - 186261417 186261915 - 19123937 100271295 ABBA01062332;AC093038;AMYH02005405;NG_010987 RPL23A_8_306 pseudo HGNC:36580 INFERRED 2304880 RPL23AP36 ribosomal protein L23a pseudogene 36 2 2 2 q33.2 197692364 197692810 - 203939408 203939854 - 203074685 203075131 - 19123937 100271296 ABBA01062595;AC023271;AMYH02005588;NG_010993 RPL23A_9_314 pseudo HGNC:35685 INFERRED 2305527 RPL23AP37 ribosomal protein L23a pseudogene 37 INTERACTS WITH genistein 2 2 2 p14 64420822 64421312 - 64574389 64574879 - 64347255 64347745 - 6480464 19123937;22747683 130773 ABBA01075417;AC114752;AMYH02003965;NG_011103 RPL23A_5_234 pseudo HGNC:35664 INFERRED 2305818 RPL23AP38 ribosomal protein L23a pseudogene 38 3 3 3 p26.3 1577675 1578183 - 1637421 1637929 - 1595737 1596245 - 19123937 391504 ABBA01020498;AC090043;AMYH02006147;NG_010432 RPL23A_11_340 pseudo HGNC:36351 INFERRED 2304675 RPL23AP39 ribosomal protein L23a pseudogene 39 3 3 3 p26.3 1711279 1711699 + 1771738 1772158 + 1730054 1730474 + 19123937 100271461 ABBA01020496;AC090042;AMYH02006150;NG_010521 RPL23A_15_341 pseudo HGNC:36470 INFERRED 2304674 RPL23AP40 ribosomal protein L23a pseudogene 40 3 3 3 q22.3 136942138 136942526 + 138515693 138516081 + 138796851 138797239 + 19123937 100271462 ABBA01059082;AC067728;AMYH02007774;NG_010526 RPL23A_17_408 pseudo HGNC:35587 INFERRED 1353745 RPL23AP4 ribosomal protein L23a pseudogene 4 21 21 q22.3 48110662 48111169 + 46690750 46691257 + 10830953;19123937 54029 AMYH02037965;AP001478;AP001761;NG_000910 RPL23A_42_1735 pseudo HGNC:10321 INFERRED 2305577 RPL23AP25 ribosomal protein L23a pseudogene 25 1 1 q44 249230903 249231268 + 248936704 248937069 + 19123937 653789 ABBA01002093;AL672183;AMYH02003156;NG_011146 RPL23A_7_192 pseudo HGNC:35672 INFERRED 2305542 RPL23AP41 ribosomal protein L23a pseudogene 41 3 3 3 q23 139044400 139044857 + 140621036 140621493 + 140902194 140902651 + 19123937 646685 ABBA01059055;AC132032;AMYH02007799;NG_010152 RPL23A_18_409 pseudo HGNC:35634 INFERRED 2305225 RPL23AP42 ribosomal protein L23a pseudogene 42 INTERACTS WITH copper(2+) sulfate 3 3 3 q26.1 159567812 159569713 - 161146848 161147400 - 161429060 161429612 - 6480464 11181995;16341674;19123937;19738201 647099 ABBA01058787;AC112491;AMYH02008032;CH471052;NG_010965 EAW78613;EAW78614 RPL23A_13_431 pseudo HGNC:35942 INFERRED 2305822 RPL23AP43 ribosomal protein L23a pseudogene 43 3 3 3 p22.3 32760407 32765029 + 32823051 32827672 + 32781559 32786180 + 6480464 19123937 389101 ABBA01024924;AC139452;AMYH02006505;NG_011232 RPL23A_16_360 pseudo HGNC:35751 INFERRED 2305703 RPL23AP44 ribosomal protein L23a pseudogene 44 INTERACTS WITH dioxygen 5 5 5 q23.1 116865608 116865817 - 120911543 120911752 - 121575848 121576057 - 6480464 19123937 391825 ABBA01068966;AC106806;AMYH02012081;NG_010762 RPL23A_14_607 pseudo HGNC:35955 INFERRED 2305877 RPL23AP45 ribosomal protein L23a pseudogene 45 5 5 q35.3 180898962 180901521 + 181471961 181474520 + 19123937 729764 AC138031;AMYH02012943;NG_010858 RPL23A_19_648 pseudo HGNC:36896 INFERRED 2304485 RPL23AP47 ribosomal protein L23a pseudogene 47 6 6 q27 171048925 171054967 + 170739837 170745879 + 19123937 729277 AL731684;AMYH02015018;NG_010975 RPL23A_21_778 pseudo HGNC:36576 INFERRED 2305691 RPL23AP46 ribosomal protein L23a pseudogene 46 6 6 6 q23.2 134065836 134066306 - 133318709 133319179 - 132997570 132998040 - 19123937 442260 ABBA01025875;AL139102;AMYH02014504;NG_010780 RPL23A_17_757 pseudo HGNC:35894 INFERRED 2305576 RPL23AP50 ribosomal protein L23a pseudogene 50 6 6 6 q21 108999773 109000227 + 108253004 108253458 + 107931800 107932254 + 19123937 728106 ABBA01026162;AL024507;AMYH02014261;NG_011358 RPL23A_20_731 pseudo HGNC:35958 INFERRED 1344515 RPL23AP5 ribosomal protein L23a pseudogene 5 16 16 16 p13.3 637294 637838 + 436746 437290 + 386746 387290 + 11157797;19123937;23446634;9054936 729480 ABBA01030376;AE006463;AMYH02031192;NG_006537;Z97634 AAK61228 1818656;2049292;2049294;2049296;2049298;2049300;2049302;2049304;2104736 ECD10392;REN95789;REN95790;REN95791;REN95792;REN95793;REN95795;REN95796;stSG609089 RPL23AL;RPL23A_35_1465;RPL2B;c367G8.3;rjd10 pseudo HGNC:14194 INFERRED 2304673 RPL23AP51 ribosomal protein L23a pseudogene 51 7 7 7 p22 7749486 7749942 - 7781737 7782193 - 7742106 7742562 - 19123937 100271464 ABBA01056521;AC007161;AMYH02015193;CH236948;NG_010537 RPL23A_18_782 pseudo HGNC:36040 INFERRED 2304672 RPL23AP52 ribosomal protein L23a pseudogene 52 7 7 7 p21.3 11020807 11021260 - 11046026 11046479 - 11006399 11006852 - 19123937 100271465 ABBA01056553;AC005007;AMYH02015229;CH236948;NG_010541 RPL23A_19_784 pseudo HGNC:36723 INFERRED 2304671 RPL23AP54 ribosomal protein L23a pseudogene 54 8 8 8 p23.2 5309763 5310223 + 5334031 5334491 + 5476509 5476969 + 19123937 100271466 ABBA01007070;AC091193;AMYH02017274;NG_010550 RPL23A_22_870 pseudo HGNC:36689 INFERRED 2305590 RPL23AP53 ribosomal protein L23a pseudogene 53 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin 8 8 8 p23.3 129097 152515 - 158344 182318 - 208344 232318 - 6480464 12477932;16344560;19123937 644128 ABBA01007272;AC004908;AC131281;AK127000;AMYH02017213;BC052779;BC064938;BC086864;DA238450;NR_003572 Hs.652159 1776209;5014311 185XB2;REN95794 DKFZp434B1135;FLJ45055;RPL23A_20_869 pseudo HGNC:35921 VALIDATED 2304670 RPL23AP55 ribosomal protein L23a pseudogene 55 8 8 8 p21 22027029 22027480 + 23064431 23064882 + 23206918 23207369 + 19123937 100271467 ABBA01005539;AC100861;AMYH02017605;NG_010555;NG_032107 RPL23A_23_884 pseudo HGNC:35997 INFERRED 2305757 RPL23AP49 ribosomal protein L23a pseudogene 49 3 3 3 p12.3 76417572 76418039 - 75673837 75674304 - 75624686 75625153 - 19123937 653236 ABBA01030989;AC108724;AC245159;NG_011379 RPL23A_12_383 pseudo HGNC:35689 INFERRED 2305843 RPL23AP56 ribosomal protein L23a pseudogene 56 8 8 8 q24.22 132163861 132164316 - 135991070 135991525 - 134978827 134979282 - 19123937 645809 ABBA01012697;AC103764;AMYH02018823;NG_011378 1747125 G64004 RPL23A_21_952 pseudo HGNC:35516 INFERRED 2305837 RPL23AP57 ribosomal protein L23a pseudogene 57 9 9 9 p24.1 6576611 6577082 + 6639141 6639611 + 6639141 6639611 + 19123937 648294 ABBA01065391;AL162411;AMYH02019097;NG_010529;NG_016397 RPL23A_24_958 pseudo HGNC:36971 INFERRED 2305347 RPL23AP48 ribosomal protein L23a pseudogene 48 6 6 6 q22.31 122745645 122746132 - 122001118 122001605 - 121679972 121680459 - 19123937 728567 ABBA01025990;AL603865;AMYH02014402;NG_011281 RPL23A_16_748 pseudo HGNC:36110 INFERRED 2304858 RPL23AP60 ribosomal protein L23a pseudogene 60 10 10 q26.3 135515566 135516575 + 133778241 133779250 + 19123937 728933 AMYH02024103;BX322534;NG_010522 RPL23A_26_1111 pseudo HGNC:35966 INFERRED 1349675 RPL23AP6 ribosomal protein L23a pseudogene 6 20 20 20 p12.2 10399761 10400288 - 10329760 10330287 - 10349112 10349639 - 19123937 128709 ABBA01053932;AL023913;AMYH02036698;NG_000971 RPL23A_36_1683;dJ1068F16.1 pseudo HGNC:16555 INFERRED 2305462 RPL23AP61 ribosomal protein L23a pseudogene 61 10 10 10 q11.23 42832697 42833167 - 51532102 51532572 - 46063250 46063720 + 19123937 728484 ABBA01033535;AL589822;AMYH02023032;NG_010857 RPL23A_22_1044 pseudo HGNC:36016 INFERRED 2304627 RPL23AP64 ribosomal protein L23a pseudogene 64 11 11 11 q23.3 116015853 116016355 - 118873663 118874303 - 119002953 119003593 - 12477932;19123937 649946 ABBA01039681;AMYH02025659;AP003392;BC017930;BC060042;NR_003040 Hs.647213 5014311;5020948;5024651;5109281 D1S1425;G35510;REN95794;RH66779 RPL23A_25_1182 pseudo HGNC:36552 VALIDATED 2305874 RPL23AP63 ribosomal protein L23a pseudogene 63 11 11 11 p11.2 43886502 43887015 + 43740220 43740733 + 43718670 43719183 + 6480464 19123937 729798 ABBA01060775;AC068205;AMYH02024678;NG_011026 RPL23A_28_1140 pseudo HGNC:35502 INFERRED 2305628 RPL23AP65 ribosomal protein L23a pseudogene 65 11 11 11 p15.4 9749098 9749648 + 9627681 9628229 + 9606134 9606682 + 6480464 19123937 440027 ABBA01061169;AC011979;AMYH02024321;NG_011129 RPL23A_27_1119 pseudo HGNC:36289 INFERRED 2304457 RPL23AP66 ribosomal protein L23a pseudogene 66 12 12 12 p12 17635329 17635809 + 12491710 12492188 + 12338776 12339254 + 19123937 100271620 ABBA01067837;AC007621;AMYH02026057;NG_009979 RPL23A_30_1207 pseudo HGNC:35940 INFERRED 2305865 RPL23AP68 ribosomal protein L23a pseudogene 68 12 12 12 q21.32 87234478 87245287 - 87563813 87574610 - 87170036 87180833 - 19123937 100130555 ABBA01053432;AC129351;AMYH02026889;NG_011302 RPL23A_26_1264 pseudo HGNC:35489 INFERRED 2304459 RPL23AP59 ribosomal protein L23a pseudogene 59 10 10 10 q23-q25 102048991 102049369 + 108309864 108310242 + 106550106 106550484 + 19123937 100271618 ABBA01063063;AL133395;AMYH02023758;NG_009967 RPL23A_25_1093 pseudo HGNC:36920 INFERRED 2304455 RPL23AP67 ribosomal protein L23a pseudogene 67 12 12 12 q24.33 133402362 133402835 + 133702065 133702538 + 133125479 133125952 + 19123937 100271622 ABBA01042529;AC026786;AMYH02027598;NG_009994 RPL23A_31_1299 pseudo HGNC:36658 INFERRED 2304454 RPL23AP69 ribosomal protein L23a pseudogene 69 13 13 13 q12.13 6844447 6844876 + 25780190 25780619 + 25206052 25206481 + 19123937 100271623 ABBA01007900;AL359757;AMYH02027718;NG_010001 RPL23A_32_1304 pseudo HGNC:36625 INFERRED 2304461 RPL23AP58 ribosomal protein L23a pseudogene 58 10 10 10 q24.32 98073442 98073904 - 104332514 104332976 - 102572757 102573219 - 19123937 100271616 ABBA01063146;AL157386;AMYH02023699;NG_009956;NG_021338 RPL23A_23_1090 pseudo HGNC:36138 INFERRED 2304456 RPL23AP72 ribosomal protein L23a pseudogene 72 16 16 16 q11 31692143 31692577 - 47184043 47184477 - 47150132 47150566 - 19123937 100271621 ABBA01013756;AC007494;AMYH02031972;NG_009986 RPL23A_30_1480 pseudo HGNC:35736 INFERRED 2305512 RPL23AP71 ribosomal protein L23a pseudogene 71 14 14 14 q13.1 14820172 14820697 + 34955184 34955709 + 34485978 34486503 + 19123937 644384 ABBA01061456;AL445363;AMYH02028987;NG_010173 1757825 SHGC-146638 RPL23A_33_1349 pseudo HGNC:36908 INFERRED 2304458 RPL23AP70 ribosomal protein L23a pseudogene 70 14 14 14 q13.2 15477057 15477516 - 35613227 35613686 - 35144021 35144480 - 19123937 100271619 ABBA01061499;AL121594;AMYH02029005;NG_009974 RPL23A_27_1353 pseudo HGNC:36030 INFERRED 2304452 RPL23AP73 ribosomal protein L23a pseudogene 73 17 17 17 p13.2 6678813 6679026 + 6653037 6653250 + 6749718 6749931 + 19123937 100271625 ABBA01054838;AC004706;AMYH02032877;NG_010014 RPL23A_36_1508 pseudo HGNC:36443 INFERRED 2305907 RPL23AP74 ribosomal protein L23a pseudogene 74 17 17 17 q23.2 58245564 58249313 + 59144569 59148308 + 61067208 61070947 + 11181995;19123937 729617 ABBA01035392;AC005884;AMYH02033735;AMYH02033736;AMYH02033737;CH471179;NG_010068 EAW51418 RPL23A_37_1566 pseudo HGNC:36148 INFERRED 1352544 RPL23AP7 ribosomal protein L23a pseudogene 7 INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 1 2 2 q14 1787956 1788395 + 114368816 114384715 - 113611239 113627138 - 6480464 12477932;14702039;16344560;19123937;8799457;8889548 118433 AC245097;AK055264;AL078621;AW340513;BC000596;BC105600;BE464804;BG335018;BI464848;BM661697;BX643196;DA484374;DA864496;NR_000029;NR_024528;NR_024529;NR_024530;NR_024531 Hs.595056;Hs.720253 5014311 REN95794 MGC104442;RPL23AL1;RPL23A_6_267;bA395L14.9 pseudo HGNC:17336 VALIDATED 2305539 RPL23AP75 ribosomal protein L23a pseudogene 75 17 17 17 q21.2 35255833 35256338 - 38595682 38596187 - 40439430 40439935 - 6480464 19123937 728207 ABBA01031827;AC018629;AMYH02033400;NG_010749 RPL23A_32_1546 pseudo HGNC:35975 INFERRED 2305350 RPL23AP77 ribosomal protein L23a pseudogene 77 18 18 18 q11.2 18106067 18106570 - 21289762 21290262 - 23709798 23710298 - 19123937 728538 ABBA01022627;AC067796;AMYH02034421;NG_011124 RPL23A_33_1589 pseudo HGNC:36354 INFERRED 2305882 RPL23AP76 ribosomal protein L23a pseudogene 76 17 17 17 p12 14875690 14876147 - 14851058 14851515 - 14947741 14948198 - 19123937;23251661 441781 ABBA01055037;AC005773;AMYH02033043;CH471108;NG_010940 EAW89951 RPL23A_31_1517 pseudo HGNC:36555 INFERRED 2304453 RPL23AP78 ribosomal protein L23a pseudogene 78 19 19 19 p13.2 8658189 8658659 - 8839097 8839566 - 8728735 8729204 - 19123937 100271624 ABBA01016837;AC012616;AC243312;AMYH02035447;NG_010009 RPL23A_34_1620 pseudo HGNC:35518 INFERRED 1625647 RPL23AP8 ribosomal protein L23a pseudogene 8 14 14 14 q13.2 15027529 15028067 + 35163361 35163899 + 34694155 34694693 + 19123937 641614 ABBA01061482;AL355885;AMYH02028993;NG_006076 1339739 D14S556 RPL23AP9;RPL23A_34_1351 pseudo HGNC:23543 INFERRED 2304418 RPL23AP80 ribosomal protein L23a pseudogene 80 19 19 19 q13.33 45103419 45103855 - 48297723 48298159 - 47794466 47794902 - 19123937 390949 ABBA01041056;AC008745;AMYH02036270;NG_010201 2112986 D19S1156 RPL23A_35_1661 pseudo HGNC:36956 INFERRED 1345681 RPL23AP3 ribosomal protein L23a pseudogene 3 21 21 21 q22.2 22587229 22587744 - 37388340 37388855 - 36016042 36016557 - 10830953;19123937;9740676 8489 AB003151;ABBA01057380;AMYH02037771;AP000688;NG_000878 RPL23A_37_1729 pseudo HGNC:10320 INFERRED 1602988 RPL23AP9 ribosomal protein L23a pseudogene 9 q13.2 122585 XR_017424;XR_019430 Hs.647560 pseudo HGNC:23544 1606408 RPL23AP82 ribosomal protein L23a pseudogene 82 INTERACTS WITH benzo[a]pyrene; cadmium atom 13 22 22 q13.33 95784261 95785251 + 51195514 51238065 + 50757086 50799637 + 6480464 12477932;17207965;19123937 284942 AADB02274699;ABBA01006498;AC002055;AC002056;AK293095;AL365511;AMYH02038628;BC010172;BC019348;BC065556;BQ668440;DC308368;NR_026981;NR_026982 ADQ33086;BAF85784;CAB97207 Hs.406135 1675489;1686090;1706104;5014311 REN95794;RH70758;RH79812;SHGC-80090 MGC70863;RPL23A_43_1761 pseudo HGNC:33730 14701 VALIDATED 2305272 RPL23P10 ribosomal protein L23 pseudogene 10 8 8 8 p12 35388596 35388987 - 36438715 36439106 - 36581197 36581588 - 19123937 100270962 ABBA01023579;AC084308;AMYH02017804;NG_010585 RPL23_2_893 pseudo HGNC:36177 INFERRED 2304879 RPL23P11 ribosomal protein L23 pseudogene 11 10 10 10 p11.22 33918560 33918970 + 34153241 34153651 + 33864313 33864723 + 19123937 100271297 ABBA01033366;AL117338;AMYH02022598;NG_010998 RPL23_6_1032 pseudo HGNC:36457 INFERRED 1352398 RPL23P2 ribosomal protein L23 pseudogene 2 21 21 21 q22.11 15552611 15553125 - 30369877 30370391 - 28997556 28998070 - 10830953;19123937 54028 ABBA01057247;AF129075;AL163249;AMYH02037688;NG_000909 RPL23_4_1724 pseudo HGNC:10324 INFERRED 2305830 RPL23P3 ribosomal protein L23 pseudogene 3 1 1 1 p31.1 77371471 77371897 + 79131956 79132382 + 78666271 78666697 + 19123937 100130630 ABBA01074390;AC104837;AMYH02001316;NG_010377 RPL23_1_65 pseudo HGNC:35988 INFERRED 2305273 RPL23P4 ribosomal protein L23 pseudogene 4 2 2 2 q35 214332475 214332876 + 220562535 220562936 + 219697813 219698214 + 19123937 100270961 ABBA01023838;AC009502;AMYH02005828;NG_010580 1807066;1808712;1966136;1966138;1966140;1966142;1966144;1966146;1966148;1966150;1966152;1966154;1966156;1966158;2214256 ECD04498;ECD05338;REN53943;REN53944;REN53945;REN53946;REN53947;REN53948;REN53949;REN53950;REN53951;REN53952;REN53953;REN53954;stSG633194 RPL23_2_327 pseudo HGNC:36678 INFERRED 2305358 RPL23P6 ribosomal protein L23 pseudogene 6 6 6 6 p21.2 41479317 41479825 - 39926090 39926598 - 39958351 39958859 - 6480464 19123937 646949 ABBA01050772;AL136089;AMYH02013595;FO393411;NG_010199 RPL23_1_689 pseudo HGNC:35554 INFERRED 2305550 RPL23P7 ribosomal protein L23 pseudogene 7 7 7 7 p15.2 26304755 26305260 + 26315781 26316286 + 26276161 26276666 + 19123937 442659 ABBA01056747;AC010677;AMYH02015395;CH236948;NG_009403 RPL23_5_797 pseudo HGNC:36215 INFERRED 2304422 RPL23P8 ribosomal protein L23 pseudogene 8 INTERACTS WITH 17beta-estradiol 7 7 7 p21.1 20852410 20852932 + 20866917 20867439 + 20827298 20827820 + 6480464 19123937;23535732 222901 ABBA01056678;AC005251;AMYH02015341;BE505019;CH236948;EC453672;NR_026673 EAL24272 Hs.722187;Hs.735774 2140313;2147678 AFM217XA9;GDB:1317734 RPL23_4_790 pseudo ENSG00000219451 HGNC:36225 VALIDATED 2305337 RPL23P9 ribosomal protein L23 pseudogene 9 8 8 8 q22.3 102180512 102184260 - 105993365 105997113 - 104981137 104984885 - 19123937 100129377 ABBA01037656;AC090142;AMYH02018560;NG_010503 1666487 G32179 RPL23_3_937 pseudo HGNC:36853 INFERRED 1346982 RPL24P2 ribosomal protein L24 pseudogene 2 20 20 20 p11.23 21169638 21170187 + 21095322 21095871 + 21114681 21115230 + 19123937 140760 ABBA01054100;AL121759;AMYH02036811;NG_001003 RPL24_5_1691;dJ872K7.2 pseudo HGNC:16597 INFERRED 1345776 RPL24P3 ribosomal protein L24 pseudogene 3 14 14 14 q24.1 50091830 50092343 - 70027717 70028230 - 69561000 69561513 - 19123937 145235 ABBA01030826;AL133445;AMYH02029436;NG_002525 RPL24_2_1385 pseudo HGNC:19784 INFERRED 1606095 RPL24P4 ribosomal protein L24 pseudogene 4 6 6 6 p21.1 44476339 44476768 - 42924072 42924504 - 42956334 42956766 - 19123937 377381 ABBA01050702;AL158815;AMYH02013635;NG_003160;NG_008396 2163636 RH47183 RPL24_1_692;dJ125M3.1 pseudo HGNC:21371 INFERRED 2305536 RPL24P5 ribosomal protein L24 pseudogene 5 1 1 1 q31.3 170827649 170828194 + 197704734 197705279 + 197735604 197736149 + 19123937 100129017 ABBA01027587;AL365258;AMYH02002439;NG_011292 RPL24_1_143 pseudo HGNC:36102 INFERRED 2304736 RPL24P6 ribosomal protein L24 pseudogene 6 3 3 3 q29 193690948 193691505 + 195281388 195281945 + 195554570 195555127 + 6480464 19123937 100129808 ABBA01001605;AC069213;AC091633;AMYH02008472;NG_009582 RPL24_3_450 pseudo HGNC:36637 INFERRED 2305271 RPL24P7 ribosomal protein L24 pseudogene 7 3 3 3 p24.3 23111880 23112436 + 23175810 23176358 + 23134319 23134867 + 19123937;24132900 100270963 ABBA01025049;AC099544;AMYH02006397;NG_010593 RPL24_2_348 pseudo HGNC:36862 INFERRED 2305270 RPL24P8 ribosomal protein L24 pseudogene 8 9 9 9 q21.11 43422468 43423017 + 72832073 72832622 + 70217157 70217706 + 19123937 100270964 ABBA01033820;AL158153;AMYH02020950;NG_010599 2163636 RH47183 RPL24_4_982 pseudo HGNC:36409 INFERRED 1343578 RPL25P1 ribosomal protein L25 pseudogene 1 3459254 6153 HGNC:10326 2305217 RPL23AP83 ribosomal protein L23a pseudogene 83 X X X p11.21 60107871 60108343 - 56269370 56269842 - 56242937 56243409 - 19123937 100131846 ABBA01069450;AL050309;AMYH02039522;NG_009997;NG_011949 RPL23A_38_1781 pseudo HGNC:35846 INFERRED 1352940 RPL26L1 ribosomal protein L26-like 1 This gene encodes a protein that shares high sequence similarity with ribosomal protein L26. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. Transcript variants utilizing alternative polyA signals exist. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 168419595 168429933 + 172385917 172396774 + 172958914 172969771 + 1580863;6480464 11042152;12477932;14567916;15189156;15489334;15635413;21139048;21145461;21853274;21890473;21906983;21963094;22863883;23000965;23084401;23398456;23443559;23463506;24244333;24250222;24816145 51121 E5RHH1;E5RIT6;Q9UNX3 ABBA01044034;ABBA01044035;ABBA01044036;AC008429;AF083248;AK128872;AMYH02012760;AMYH02012761;AMYH02012762;BC009766;BC017360;BC070192;CH471062;NM_016093;XM_005265921;XM_005265922;XM_005265923 AAD39846;AAH17360;AAH70192;ABM83543;ABM86783;BAG54744;EAW61420;EAW61421;NP_057177;Q9UNX3;XP_005265978;XP_005265979;XP_005265980 Hs.546390 1667038;1685021 RH76715;STS-T97510 FLJ46904;RPL26P1 60S ribosomal protein L26-like 1;OTTHUMP00000161072;OTTHUMP00000223519;OTTHUMP00000223520;OTTHUMP00000223521;OTTHUMP00000223522;ribosomal protein L26 homolog;ribosomal protein L26 pseudogene 1 APPROVED protein-coding ENSG00000037241 HGNC:17050 17993 REVIEWED 2304460 RPL23AP62 ribosomal protein L23a pseudogene 62 11 11 11 q23.1 109485217 109485654 - 112332206 112332643 - 112461483 112461920 - 19123937 100271617 ABBA01039796;AMYH02025587;AP002499;NG_009961 RPL23A_24_1177 pseudo HGNC:36276 INFERRED 2304451 RPL23AP79 ribosomal protein L23a pseudogene 79 19 19 q13.4 59110337 59110802 + 58598970 58599435 + 19123937 100271626 AC016629;AMYH02036540;NG_010019 RPL23A_39_1676 pseudo HGNC:36226 INFERRED 2304450 RPL23AP81 ribosomal protein L23a pseudogene 81 20 20 20 q12 36535994 36536465 + 39825326 39825797 + 41196686 41197157 + 19123937 100271627 ABBA01052574;AL022394;AMYH02037084;NG_010024 RPL23A_40_1702 pseudo HGNC:36246 INFERRED 2305394 RPL26P10 ribosomal protein L26 pseudogene 10 1 1 1 p13.1 113231683 113232029 + 115002456 115002802 + 114459834 114460180 + 19123937 100270886 ABBA01068463;AL035410;AL390241;AMYH02001782;NG_010202;NG_023287 1722461 G61971 RPL26_3_90 pseudo HGNC:36323 INFERRED 2305754 RPL26P11 ribosomal protein L26 pseudogene 11 1 1 1 q25.1 146424449 146430604 + 173314999 173321149 + 173345860 173352010 + 19123937 730070 ABBA01027908;AL645568;AMYH02002153;KF455105;NG_011107 RPL26_5_125 pseudo HGNC:35768 INFERRED 2305369 RPL23P5 ribosomal protein L23 pseudogene 5 2 2 2 q36.1 216216415 216225833 + 222448232 222457651 + 221583512 221592931 + 19123937 402120 ABBA01023821;AC079834;AMYH02005852;NG_011036 RPL23_3_328 pseudo HGNC:35747 INFERRED 2304371 RPL26P12 ribosomal protein L26 pseudogene 12 1 1 1 q24.1 138893974 138894463 + 165788579 165789068 + 165819342 165819831 + 19123937 391126 ABBA01047273;AL451074;AMYH02002069;NG_011110 RPL26_4_113 pseudo HGNC:36025 INFERRED 2305269 RPL26P15 ribosomal protein L26 pseudogene 15 2 2 2 p21 46069463 46069971 - 46231052 46231560 - 46003913 46004421 - 19123937 100270965 ABBA01075135;AC017078;AMYH02003730;NG_010605 RPL26_2_213 pseudo HGNC:35512 INFERRED 2305746 RPL26P14 ribosomal protein L26 pseudogene 14 2 2 2 q22.3 142273568 142282284 + 148559416 148568133 + 147801847 147810564 + 19123937 100133235 ABBA01028018;AC009480;AMYH02004946;CH471058;NG_010597 EAX11563 RPL26_7_282 pseudo HGNC:36184 INFERRED 2305486 RPL26P13 ribosomal protein L26 pseudogene 13 2 2 2 p16.1 60782204 60782687 + 60938586 60939069 + 60711451 60711934 + 19123937 130865 ABBA01075336;AC012498;AMYH02003912;NG_010263 RPL26_6_221 pseudo HGNC:36639 INFERRED 2305357 RPL26P16 ribosomal protein L26 pseudogene 16 4 4 4 q32.3 163173759 163174319 - 165841729 165842289 - 164920577 164921137 - 19123937 646966 ABBA01070287;AC106872;AMYH02010432;NG_010289 RPL26_3_532 pseudo HGNC:36098 INFERRED 1321610 RPL26 ribosomal protein L26 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 17 17 17 p13 8311586 8317314 - 8280834 8286565 - 8377516 8383247 - 6480464;8699517;7240710;8554872 11401437;11790298;11875025;12477932;12777385;12962325;14567916;15189156;15489334;16169070;16196087;17353931;17361185;17620599;18274552;18457437;18697920;18951086;19471022;19596686;19615732;19738201;19850743;19946888;20020773;20301769;20542919;20562864;21045808;21139048;21145461;21319273;21693764;21890473;21906983;21963094;21988832;22190735;22431104;22433872;22586326;22623428;22863883;22868929;23000965;23084401;23169665;23246001;23398456;23443559;23463506;24457600;24583282;24816145;8479925;8722009;9582194 6154 J3KS10;J3KSS0;J3KTJ8;J3QQV1;J3QRC4;J3QRI7;P61254 AB061829;ABBA01054916;AC135178;AK311804;AMYH02032923;AX888013;BC066316;BC071664;BI091167;BM928617;CH471108;CR456828;L07287;NG_031989;NM_000987;XM_005256749;XM_005256750 AAA60279;AAH71664;BAB79467;BAG34747;CAE93938;CAG33109;EAW90053;EAW90054;EAW90057;NP_000978;P61254;XP_005256806;XP_005256807 Hs.482144;Hs.644794;Hs.744896 2132365 D17S1277 DBA11;L26 60S ribosomal protein L26;OTTHUMP00000135333 APPROVED protein-coding ENSG00000161970 HGNC:10327 04746 603704;614900 REVIEWED 2305266 RPL26P18 ribosomal protein L26 pseudogene 18 5 5 5 q33.3 152875979 152876498 + 156849412 156849932 + 157422404 157422924 + 19123937 100270968 ABBA01044271;AC008676;AMYH02012553;NG_010618 RPL26_9_632 pseudo HGNC:36579 INFERRED 2305789 RPL26P17 ribosomal protein L26 pseudogene 17 4 4 4 q21.1 75108551 75113952 + 77807198 77812600 + 76886045 76891447 + 19123937 100128318 ABBA01063367;AC104687;AMYH02009521;NG_010328 RPL26_8_492 pseudo HGNC:35662 INFERRED 2304746 RPL26P19 ribosomal protein L26 pseudogene 19 5 5 5 q11.2 52754427 52754949 - 55800419 55800941 - 56504592 56505114 - 19123937 441073 ABBA01015765;AC022431;AMYH02011329;NG_008064 RPL26_4_565 pseudo HGNC:36393 INFERRED 1346437 RPL26P2 ribosomal protein L26 pseudogene 2 14 14 14 q11.2 3026307 3026836 - 23163261 23163790 - 22694052 22694581 - 19123937 326297 ABBA01061283;AL160314;AMYH02028847;NG_002549 RPL26_14_1341 pseudo HGNC:19773 INFERRED 2305725 RPL26P21 ribosomal protein L26 pseudogene 21 7 7 7 p21.2 13890539 13891311 + 13911409 13912181 + 13871784 13872556 + 19123937 646161 ABBA01056596;AC005019;AMYH02015265;CH236948;NG_010072 2156714 D7S790 RPL26_11_785 pseudo HGNC:35497 INFERRED 2304360 RPL26P22 ribosomal protein L26 pseudogene 22 7 7 7 q35 3395 3911 + 143229787 143230303 - 143532694 143533210 - 19123937 643101 ABBA01034138;AC073264;AMYH02016971;CH236959;NG_011354 RPL26_5_860 pseudo HGNC:36244 INFERRED 2305001 RPL26P20 ribosomal protein L26 pseudogene 20 6 6 6 q14.1 76602709 76603146 + 76209421 76209858 + 75499705 75500142 + 19123937 100271191 ABBA01040358;AL356057;AMYH02013931;NG_010455 RPL26_10_715 pseudo HGNC:35933 INFERRED 2305105 RPL26P23 ribosomal protein L26 pseudogene 23 7 7 7 q36.3 150853190 150853696 + 156426008 156426514 + 156633314 156633820 + 19123937 100129517 ABBA01032376;AC005534;AMYH02017148;CH236954;NG_011231 RPL26_13_865 pseudo HGNC:36634 INFERRED 2305504 RPL26P24 ribosomal protein L26 pseudogene 24 7 7 7 q35 3395 3911 + 143493346 143493862 + 143796253 143796769 + 19123937 728311 AC099548;AMYH02016936;CH236959;NG_011390 RPL26_12_861 pseudo HGNC:35774 INFERRED 2305268 RPL26P25 ribosomal protein L26 pseudogene 25 8 8 8 p12 35795747 35796315 - 36845448 36846016 - 36987930 36988498 - 19123937 100270966 ABBA01023575;AC090453;AMYH02017808;NG_010610 RPL26_6_894 pseudo HGNC:36383 INFERRED 2304667 RPL26P27 ribosomal protein L26 pseudogene 27 10 10 10 q21 63534631 63535152 + 70259245 70259766 + 68499488 68500009 + 19123937 100271471 ABBA01019568;AL713888;AMYH02023254;NG_010572 2181310 RH66142 RPL26_15_1055 pseudo HGNC:36735 INFERRED 2305710 RPL26P28 ribosomal protein L26 pseudogene 28 10 10 10 p15.1 5260296 5260817 - 5346343 5346864 - 5304380 5304901 - 19123937 100130983 ABBA01035199;AL355303;AMYH02022039;NG_010872 1335493 D10S1713 RPL26_8_1018 pseudo HGNC:35776 INFERRED 2305267 RPL26P26 ribosomal protein L26 pseudogene 26 8 8 8 q12.1 55018827 55019351 - 59025700 59026224 - 58113141 58113665 - 19123937 100270967 ABBA01041785;AC027698;AMYH02018030;NG_010615 RPL26_7_907 pseudo HGNC:35693 INFERRED 2305329 RPL26P29 ribosomal protein L26 pseudogene 29 10 10 10 q21.3 63459677 63460114 + 70184317 70184754 + 68424560 68424997 + 19123937 100131788 ABBA01019566;AL136233;AMYH02023252;NG_008066;NG_034247 FLJ10063;RPL26_14_1054 pseudo HGNC:36135 INFERRED 2305798 RPL26P30 ribosomal protein L26 pseudogene 30 11 11 11 p15.5 2391446 2391899 - 2356541 2356994 - 2335311 2335764 - 11181995;19123937;20562864 653147 ABBA01032095;AC129929;AMYH02024190;CH471158;NG_010478 EAX02506 1667038;1851959 D11S4616;STS-T97510 RPL26_10_1113 pseudo HGNC:36733 INFERRED 1348289 RPL26P3 ribosomal protein L26 pseudogene 3 14 14 14 q12 8824635 8825122 + 28959111 28959598 + 28489905 28490392 + 19123937 326298 ABBA01061374;AL133162;AMYH02028915;NG_002550 RPL26_17_1344 pseudo HGNC:19776 INFERRED 2304669 RPL26P31 ribosomal protein L26 pseudogene 31 11 11 11 q21-q22 90090164 90090660 - 92785544 92786040 - 93052378 93052874 - 19123937;23725790 100271469 ABBA01040054;AMYH02025352;AP002371;NG_010564 RPL26_11_1166 pseudo HGNC:36907 INFERRED 2304402 RPL26P33 ribosomal protein L26 pseudogene 33 12 12 12 q13.12 49555369 49555896 + 50759382 50759913 + 50365599 50366130 + 19123937 100132547 ABBA01031569;AC090058;AMYH02026457;NG_011012 RPL26_16_1236 pseudo HGNC:36755 INFERRED 2304988 RPL26P32 ribosomal protein L26 pseudogene 32 12 12 12 q21.31 80163189 80163687 - 80496639 80497137 - 80102859 80103357 - 11181995;17903296;19123937 400055 ABBA01053498;AC078817;AMYH02026821;CH471054;NG_006965 EAW97359;EAW97360 RPL26_12_1262 pseudo HGNC:36448 INFERRED 2304668 RPL26P34 ribosomal protein L26 pseudogene 34 13 13 13 q12.12 6341693 6342143 - 25278476 25278926 - 24704338 24704788 - 19123937 100271470 ABBA01007894;AL157364;AMYH02027709;NG_010568 RPL26_13_1302 pseudo HGNC:36249 INFERRED 2305872 RPL26P35 ribosomal protein L26 pseudogene 35 18 18 18 q23 71362598 71363166 - 74546348 74546916 - 76834392 76834960 - 19123937 100128115 ABBA01015286;AC027575;AMYH02035024;NG_010596 RPL26_15_1614 pseudo HGNC:36278 INFERRED 2305375 RPL26P36 ribosomal protein L26 pseudogene 36 X X X q21.32 92435033 92435611 - 91931475 91932051 - 92676476 92677052 - 19123937 392501 AL121871;AMYH02039965;NG_010282 RPL26_16_1792 pseudo HGNC:36685 INFERRED 1351741 RPL26P4 ribosomal protein L26 pseudogene 4 14 14 14 q32.31 82199016 82199502 + 102144274 102144760 + 101677937 101678423 + 19123937 283603 ABBA01048508;AL355032;AMYH02029878;NG_002527 RPL26_18_1407 pseudo HGNC:19807 INFERRED 2304362 RPL26P37 ribosomal protein L26 pseudogene 37 X Y Y p11.2 92435033 92435611 - 5661298 5661876 - 5793257 5793835 - 12815422;19123937;9847074 441533 ABBA01069925;AC010874;NG_002815 1702744 DXS1508 RPL26_17_1822 pseudo HGNC:36004 INFERRED 2291776 RPL26P6 ribosomal protein L26 pseudogene 6 10 10 10 q22.2 68467570 68468113 - 75181974 75182517 - 73422216 73422759 - 19123937 100131526 ABBA01020326;AL353731;AMYH02023334;NG_009730 5037295 ZMYND17__4955 RPL26_9_1063 pseudo HGNC:34023 INFERRED 2304148 RPL26P5 ribosomal protein L26 pseudogene 5 15 15 15 q26.2 71231911 71232417 + 94816725 94817231 + 94273496 94274002 + 654386 ABBA01032436;AC135626;AMYH02031098;NG_009883 HsT41398 pseudo HGNC:31031 INFERRED 2305396 RPL26P8 ribosomal protein L26 pseudogene 8 1 1 1 p36.11 23217234 23217608 + 24890088 24890462 + 24563597 24563971 + 19123937 100270884 ABBA01059908;AL445686;AMYH02000520;NG_010189 RPL26_1_22 pseudo HGNC:36192 INFERRED 2305397 RPL26P7 ribosomal protein L26 pseudogene 7 1 1 1 p36.2 8833373 8833713 - 9722346 9722686 - 9662288 9662628 - 19123937 100270883 ABBA01035565;AL691449;AMYH02000253;NG_010184;NG_023434 RPL26_1_10 pseudo HGNC:37030 INFERRED 2305395 RPL26P9 ribosomal protein L26 pseudogene 9 1 1 1 p22 96305137 96305572 + 98051422 98051856 + 97585866 97586300 + 19123937 100270885 ABBA01045475;AL356457;AMYH02001538;NG_008807;NG_010196 RPL26_2_76 pseudo HGNC:36180 INFERRED 1347451 RPL27AP ribosomal protein L27a pseudogene 20 20 20 q13.12 38988611 38989443 + 42281148 42281980 + 43652508 43653340 + 128481 ABBA01052624;AL121886;AMYH02037115;AMYH02037116;NG_000965 dJ1028D15.2 pseudo HGNC:16250 INFERRED 2304372 RPL27AP2 ribosomal protein L27a pseudogene 2 1 1 1 q23.2 133056239 133059014 + 159987799 159990574 + 160018009 160020784 + 11181995;19123937 391124 ABBA01016617;AL513302;AMYH02002018;CH471121;NG_006951 EAW52753 RPL27A_1_106 pseudo HGNC:36238 INFERRED 735597 RPL27 ribosomal protein L27 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L27E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 17 17 17 q21 37806712 37811248 + 41150446 41154976 + 42998429 43002959 + 6480464 11401437;11790298;11875025;12477932;12962325;1302024;14567916;14702039;15064750;15189156;15489334;15635413;16196087;18274552;18809582;19167051;19946888;21139048;21145461;21319273;21853274;21890473;21906983;21963094;21988832;22174317;22863883;22939629;23000965;23166591;23246001;23398456;23443559;23463506;24457600;24657165;24816145;7545954;7581362;8148381;8722009 6155 K7ELC7;K7EQQ9;K7ERY7;P61353 AB061851;ABBA01006394;ABBA01006395;AC055866;AK124148;AK311792;AMYH02033445;AV712491;BC001700;BC002588;BC007273;BC010026;BC021886;BC098560;CH471152;L05094;L19527;L25346;NM_000988;U25752 AAA19815;AAA93226;AAC15857;AAH01700;AAH02588;AAH07273;AAH10026;AAH98560;ABM83489;ABM86705;BAB79492;BAG34735;EAW60909;EAW60910;EAW60911;EAW60912;EAW60913;NP_000979;P61353 Hs.514196;Hs.660076 5022167 RP_L27 L27 60S ribosomal protein L27 APPROVED protein-coding ENSG00000131469 HGNC:10328 09602 607526 REVIEWED 2304878 RPL27AP3 ribosomal protein L27a pseudogene 3 2 2 2 q32.1 175399011 175399442 - 181803594 181804025 - 180938867 180939298 - 19123937 100271298 ABBA01062281;AC104076;AMYH02005354;NG_011002 2125554 FB22B6 RPL27A_1_302 pseudo HGNC:35553 INFERRED 2304877 RPL27AP4 ribosomal protein L27a pseudogene 4 2 2 q13 106921211 106921660 + 106304755 106305204 + 19123937 100271299 ABBA01073840;AC114755;AMYH02004491;NG_011006 2125554 FB22B6 RPL27A_2_255 pseudo HGNC:36262 INFERRED 731426 RPL24 ribosomal protein L24 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24E family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as ribosomal protein L30 because the encoded protein shares amino acid identity with the L30 ribosomal proteins from S. cerevisiae; however, its official name is ribosomal protein L24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 3 3 3 q12 99793041 99798669 - 101399934 101405564 - 101681090 101686719 - 6480464 11401437;11875025;12477932;12962325;14567916;15189156;15231747;15489334;16009940;16196087;17081983;17203973;17220478;17353931;17361185;18274552;18457437;18781797;19167051;19596686;19738201;19850743;19946888;20085233;20391533;20639865;20972266;21139048;21145461;21151833;21182205;21890473;21906983;21963094;22053931;22178446;22354994;22505724;22863883;22939629;23000965;23084401;23125841;23184937;23246001;23398456;23443559;23463506;24163370;24457600;24583282;24657165;24816145;7821789;8012384;8428672;8722009;9582194 6152 C9JNW5;C9JXB8;P83731;V9HW01 AB007177;AB061828;ABBA01061771;AC084198;AK311992;AMYH02007317;BC000690;BC070193;BU754101;CD513036;CH471052;CR456729;D28400;EU668341;M94314;NM_000986;Z64316 AAC28251;AAH00690;AAH70193;ABM83547;ABM86787;ACF94494;BAA05766;BAA25836;BAB79466;BAG34930;CAG33010;EAW79780;EAW79781;EAW79782;EAW79783;EAW79784;NP_000977;P83731 Hs.477028;Hs.649475 2163636;2183299;5091724;5117184 GDB:451646;RH47183;SGC32636;SHGC-77157 HEL-S-310;L24 60S ribosomal protein L24;60S ribosomal protein L30;OTTHUMP00000214161;OTTHUMP00000214162;OTTHUMP00000214387;epididymis secretory protein Li 310;ribosomal protein L30 APPROVED protein-coding ENSG00000114391 HGNC:10325 10365 604180 REVIEWED 2304843 RPL27AP5 ribosomal protein L27a pseudogene 5 5 5 5 q13.3 70180295 70180743 - 74286014 74286462 - 74990189 74990637 - 19123937 100271300 ABBA01061940;AC116337;AMYH02011580;NG_011014 RPL27A_2_577 pseudo HGNC:36420 INFERRED 1320286 RPL27A ribosomal protein L27a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008] 11 11 11 p15 8821627 8829051 + 8703995 8711419 + 8682448 8689872 + 1580863;6480464;8554872 10449908;11751223;11790298;12477932;12777385;12962325;14567916;14702039;15189156;15489334;15576338;16009940;16051665;16196087;17361185;17549794;18457437;18781797;19167051;19738201;19946888;20195357;20935630;21145461;21182205;21319273;21890473;21906983;21963094;21987572;21988832;22178446;22623428;22863883;22939629;23000965;23084401;23246001;23398456;23455922;23463506;23563607;23862649;24140708;24457600;24583282;24657165;24816145;7772601;8722009;9582194 6157 E9PJD9;E9PKT2;E9PLL6;E9PLX7;H0YF34;P46776 AB007178;AB020236;ABBA01061210;AC091053;AI809856;AJ400879;AK125453;AK311767;AMYH02024293;AMYH02024294;BC004284;BC005326;BC014919;BC020169;BC066326;BG687024;BQ058236;CH471064;NM_000990;U14968 AAA85656;AAH05326;AAH20169;AAH66326;BAA25837;BAA77361;BAG34710;CAC35388;EAW68619;NP_000981;P46776 Hs.523463 1846554;2116450;2125554;2166423;2166425;2189341;5014037;5014051;5020946;5021396;5117180 D11S4394;D11S4724;D8S2278;FB22B6;GDB:313783;GDB:451637;L17971;MARC_1767-1768:991931306:1;RP_L27A_1;SGC31250;T03647 FLJ43464;L27A;MGC10850;MGC17878;MGC87238 60S ribosomal protein L27a;OTTHUMP00000231158;OTTHUMP00000231159;OTTHUMP00000231162 APPROVED protein-coding ENSG00000166441 HGNC:10329 04701 603637 REVIEWED 2304842 RPL27AP7 ribosomal protein L27a pseudogene 7 6 6 6 p12 49276819 49277222 - 47720567 47720970 - 47752831 47753234 - 19123937 100271301 ABBA01050605;AL356421;AMYH02013696;NG_011018 RPL27A_3_699 pseudo HGNC:36064 INFERRED 2305705 RPL27AP6 ribosomal protein L27a pseudogene 6 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPL27A gene, there is no convincing evidence of transcription. It is thus being annotated as a pseudogene.[provided by RefSeq, Feb 2009] 6 6 6 q25.2 154337856 154338361 - 153603384 153603889 - 153282249 153282754 - 6480464 11181995;19123937;23443559 389435 ABBA01025606;AL590867;AMYH02014751;CH471051;NG_010315 EAW47709 2166423;2189341 D11S4394;MARC_1767-1768:991931306:1 RPL27A_4_770 APPROVED pseudo HGNC:35977 INFERRED 2304468 RPL27AP8 ribosomal protein L27a pseudogene 8 13 13 13 q14.2 29395639 29396095 - 48340775 48341231 - 47766640 47767096 - 19123937 100271605 ABBA01050999;AL138959;AMYH02027997;NG_011272 RPL27A_5_1310 pseudo HGNC:36544 INFERRED 2305742 RPL27P10 ribosomal protein L27 pseudogene 10 5 5 5 p13.3 32103483 32103974 + 32222003 32222494 + 32221897 32222388 + 19123937 202122 ABBA01066733;AC025181;AMYH02011123;NG_010719 RPL27_5_551 pseudo HGNC:35494 INFERRED 2304841 RPL27P12 ribosomal protein L27 pseudogene 12 12 12 12 q24.31 123802020 123802444 - 124205765 124206189 - 123721218 123721642 - 19123937 100271302 ABBA01060393;AC117503;AMYH02027458;NG_011023;NG_012743 RPL27_4_1293 pseudo HGNC:36736 INFERRED 2305617 RPL27P2 ribosomal protein L27 pseudogene 2 1 1 1 q23.2 132797362 132797838 + 159728934 159729410 + 159759144 159759620 + 19123937 646446 ABBA01016618;AL445528;AMYH02002016;CH471121;NG_010249 EAW52776 RPL27_1_105 pseudo HGNC:36948 INFERRED 2305517 RPL27P11 ribosomal protein L27 pseudogene 11 7 7 7 q32.3 125678298 125678787 + 130927314 130927803 + 131242555 131243044 + 19123937 442723 ABBA01057565;AC009362;AMYH02016770;CH236950;NG_010513 RPL27_6_845 pseudo HGNC:36533 INFERRED 2305545 RPL27P4 ribosomal protein L27 pseudogene 4 1 1 1 p35.3 27704886 27705286 - 29308756 29309156 - 28982244 28982644 - 19123937 646624 ABBA01035070;AL138785;AMYH02000639;NG_009593;NG_013344 RPL27_1_28 pseudo HGNC:35503 INFERRED 2305265 RPL27P5 ribosomal protein L27 pseudogene 5 2 2 2 p13 63179782 63180115 - 63335231 63335564 - 63108096 63108429 - 19123937 100270969 ABBA01075398;AC009501;AMYH02003954;NG_010624 RPL27_2_231 pseudo HGNC:36120 INFERRED 2305113 RPL27P6 ribosomal protein L27 pseudogene 6 2 2 2 p15 63756432 63756907 + 63911405 63911880 + 63684271 63684746 + 19123937 647112 ABBA01075404;AC096664;AMYH02003957;NG_011037 RPL27_2_233 pseudo HGNC:36330 INFERRED 2305458 RPL27P7 ribosomal protein L27 pseudogene 7 2 2 2 q14.2 114077617 114078088 - 120750744 120751215 - 119993168 119993639 - 19123937 100129234 ABBA01045918;AC016691;AMYH02004654;NG_011089 RPL27_3_270 pseudo HGNC:36107 INFERRED 2305264 RPL27P9 ribosomal protein L27 pseudogene 9 3 3 3 p14.3 58510600 58510977 + 58497037 58497414 + 58511310 58511687 + 19123937 100270970 ABBA01024380;AC116036;AMYH02006891;NG_010630 RPL27_4_375 pseudo HGNC:36874 INFERRED 2304411 RPL27P8 ribosomal protein L27 pseudogene 8 2 2 2 q33.3 200662511 200662999 + 206905113 206905601 + 206040389 206040877 + 19123937 729332 ABBA01062644;AC007679;AMYH02005624;CH471063;NG_011266 EAW70376 RPL27_3_316 pseudo HGNC:36012 INFERRED 1352125 RPL27P1 ribosomal protein L27 pseudogene 1 14 14 14 q12 11156046 11156540 + 31290597 31291091 + 30821391 30821885 + 19123937 326299 ABBA01061404;AC000004;AL049830;AMYH02028942;NG_002551 RPL27_7_1347 pseudo HGNC:19668 INFERRED 2305263 RPL28P2 ribosomal protein L28 pseudogene 2 2 2 2 q37.1 226430712 226431112 - 232654196 232654596 - 231789486 231789886 - 19123937 100270971 ABBA01002038;AC073476;AMYH02005976;NG_010634 RPL28_1_335 pseudo HGNC:36234 INFERRED 1351908 RPL28P1 ribosomal protein L28 pseudogene 1 3 3 3 q26.2 168770782 168771276 - 170371596 170372090 - 170653807 170654301 - 11181995;19123937 402149 ABBA01058675;AC026316;AMYH02008124;CH471052;NG_009516 EAW78507 2119032 D3S3114 RPL28_2_436;bcm2489 pseudo HGNC:31359 INFERRED 2305702 RPL28P3 ribosomal protein L28 pseudogene 3 5 5 5 q23.2 120100930 120101335 - 124144519 124144924 - 124808826 124809231 - 19123937 391828 ABBA01068922;AC113398;AMYH02012119;NG_010782 1769524 D19S1019 RPL28_3_609 pseudo HGNC:35973 INFERRED 2305887 RPL28P4 ribosomal protein L28 pseudogene 4 15 15 15 q21.3 35381041 35381453 + 58492805 58493217 + 58200606 58201018 + 19123937 441726 ABBA01038985;AC066616;AMYH02030522;NG_010654 RPL28_1_1435 pseudo HGNC:36618 INFERRED 2305261 RPL29P10 ribosomal protein L29 pseudogene 10 3 3 p21 52007041 52007412 - 52027765 52028142 - 19123937 100270973 ABBA01024516;AC115284;AMYH01013181 2217924 RPL29_3440 RPL29_3_370 pseudo HGNC:36054 MODEL 1353029 RPL29P1 ribosomal protein L29 pseudogene 1 6 6 6 p24.3 8850422 8850884 + 7620656 7621118 + 7620423 7620885 + 19123937 134756 ABBA01022046;AL390026;AMYH02013062;NG_003155 RPL29_5_654;dJ336K20B.2 pseudo HGNC:21593 INFERRED 2305334 RPL29P11 ribosomal protein L29 pseudogene 11 3 3 3 p22.2 37000654 37001290 - 37057889 37058525 - 37016398 37017034 - 19123937;21145461 100131713 ABBA01024859;AC011816;AMYH02006554;NG_007109;NG_010671 1739561;1744633 D3S3458;GDB:549098 RPL29_2_362 pseudo HGNC:36905 INFERRED 2305856 RPL29P12 ribosomal protein L29 pseudogene 12 5 5 5 p12 43559141 43559779 - 43666736 43667374 - 43666634 43667272 - 19123937 283412 ABBA01024260;AC010435;AMYH02011249;NG_010090;NG_032869 RPL29_6_558 pseudo HGNC:36608 INFERRED 2305260 RPL29P14 ribosomal protein L29 pseudogene 14 5 5 5 q32 145006757 145007331 - 148924833 148925407 - 149545270 149545844 - 19123937 100270974 ABBA01026304;AC021078;AMYH02012447;NG_010651 1684981 RH91934 RPL29_7_626 pseudo HGNC:36687 INFERRED 2304978 RPL29P15 ribosomal protein L29 pseudogene 15 5 5 5 q14.1 74706031 74706666 + 78806205 78806840 + 79510382 79511017 + 19123937 728820 ABBA01062017;AC093270;AMYH02011647;NG_011265 RPL29_4_582 pseudo HGNC:36159 INFERRED 2305603 RPL29P16 ribosomal protein L29 pseudogene 16 6 6 6 p21.1 45610005 45610643 - 44056862 44057500 - 44089125 44089763 - 19123937 100131206 ABBA01050653;AL109615;AMYH02013655;NG_010701 RPL29_9_696 pseudo HGNC:36898 INFERRED 2304502 RPL29P17 ribosomal protein L29 pseudogene 17 6 6 6 p22.3 21275686 21276329 - 20042573 20043216 - 20042342 20042985 - 19123937 645224 ABBA01022248;AL008627;AMYH02013254;NG_011367 1334635 D6S1678 RPL29_8_665 pseudo HGNC:36910 INFERRED 2305593 RPL29P18 ribosomal protein L29 pseudogene 18 8 8 8 q22.3 102210442 102211052 + 106023295 106023905 + 105011067 105011677 + 19123937 644103 ABBA01037656;AC090142;AMYH02018560;NG_010002 RPL29_8_938 pseudo HGNC:36327 INFERRED 1348877 RPL29P2 ribosomal protein L29 pseudogene 2 17 17 17 p13 7684000 7684656 + 7657638 7658294 + 7754320 7754976 + 19123937 118432 ABBA01054885;AC087388;AF085886;AMYH02032913;NR_002778 Hs.658086 1652547;5019020 G42918;SGC30770 RPL29_10_1510 pseudo HGNC:17334 PROVISIONAL 2305340 RPL29P20 ribosomal protein L29 pseudogene 20 9 9 9 q32 85434692 85435291 - 114935694 114936293 - 112173414 112174013 - 19123937 100129332 ABBA01042714;AL158824;AMYH02021484;NG_010275 RPL29_10_1009 pseudo HGNC:36682 INFERRED 2304484 RPL28P5 ribosomal protein L28 pseudogene 5 19 19 19 p13.2 12264863 12265319 + 12370941 12371397 + 12260126 12260582 + 19123937 729279 ABBA01029801;AC012618;AMYH02035547;NG_010989 RPL28_2_1625 pseudo HGNC:35766 INFERRED 2305735 RPL29P13 ribosomal protein L29 pseudogene 13 5 5 5 p15.2 13663080 13663676 - 13637900 13638496 - 13637791 13638387 - 19123937 391738 ABBA01020630;AC016546;AMYH02010888;NG_010310 RPL29_5_543 pseudo HGNC:36461 INFERRED 2305873 RPL29P21 ribosomal protein L29 pseudogene 21 11 11 11 p15.1 17343996 17344780 + 17214991 17215974 + 17193444 17194427 + 19123937 732199 ABBA01061068;AC107956;AMYH02024378;NG_010211 RPL29_9_1124 pseudo HGNC:36322 INFERRED 2304666 RPL29P22 ribosomal protein L29 pseudogene 22 11 11 11 q11 60207319 60207935 - 62883239 62883855 - 63115767 63116383 - 19123937 100271472 ABBA01003253;AMYH02024909;AP001858;NG_010578 RPL29_12_1148 pseudo ENSG00000239924 HGNC:35675 INFERRED 2305631 RPL29P19 ribosomal protein L29 pseudogene 19 8 8 8 q11.21 45284338 45284993 + 49297097 49297752 + 48384537 48385192 + 19123937 389655 ABBA01041654;AC041040;AMYH02017946;NG_010114 RPL29_7_901 pseudo HGNC:35508 INFERRED 2305099 RPL29P24 ribosomal protein L29 pseudogene 24 12 12 12 q24.31 120594653 120595565 - 120960342 120961254 - 120522539 120523451 - 19123937 100129591 ABBA01020127;AC063943;AMYH02027375;NG_010294 RPL29_16_1290 pseudo HGNC:35616 INFERRED 2305759 RPL29P23 ribosomal protein L29 pseudogene 23 11 11 11 p13 33358129 33358768 - 33211461 33212100 - 33189915 33190554 - 19123937 646077 ABBA01060898;AC131263;AMYH02024564;NG_011381 RPL29_11_1134 pseudo HGNC:35946 INFERRED 2304986 RPL29P25 ribosomal protein L29 pseudogene 25 12 12 12 q24.11 110906054 110906501 - 111279361 111279808 - 110841557 110842004 - 19123937 642493 ABBA01005123;AC002375;AMYH02027195;NG_011380 RPL29_15_1277 pseudo HGNC:37039 INFERRED 2305811 RPL29P26 ribosomal protein L29 pseudogene 26 12 12 12 q22 95531932 95532546 - 95861038 95861652 - 95467262 95467876 - 19123937 643531 ABBA01053336;AC018475;AMYH02026980;NG_011051 1652547 SGC30770 RPL29_14_1268 pseudo HGNC:35717 INFERRED 2305778 RPL29P27 ribosomal protein L29 pseudogene 27 12 12 12 p11.22 33863442 33864066 - 28717480 28718104 - 28564547 28565171 - 19123937 100130792 ABBA01068061;AC084754;AMYH02026257;NG_011196 RPL29_13_1221 pseudo HGNC:35551 INFERRED 2305470 RPL29P28 ribosomal protein L29 pseudogene 28 13 13 13 q13.1 18567860 18568253 - 37500575 37500968 - 36926438 36926831 - 19123937 646884 ABBA01021350;AL138706;AMYH02027873;CH471075;NG_011177 EAX08576 RPL29_17_1307 pseudo HGNC:36842 INFERRED 2304665 RPL29P29 ribosomal protein L29 pseudogene 29 13 13 13 q31.2 69730047 69730454 - 88888817 88889224 - 88236562 88236969 - 19123937 100271474 ABBA01027268;AL445210;AMYH02028427;NG_010587 RPL29_18_1328 pseudo HGNC:36577 INFERRED 737093 RPL29 ribosomal protein L29 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 3 3 3 p21.3-p21.2 52006920 52009228 - 52027644 52029958 - 51993628 51995942 - 1580863;6480464 10353821;10833435;11401437;11803571;12477932;12659638;12962325;14567916;15189156;15489334;15635413;15721314;16169070;16196087;16475173;17353931;17370265;17620340;18274552;18781797;18980226;19123937;19738201;19946888;20554519;20639865;21139048;21151833;21182205;21890473;21906983;21963094;22178446;22863883;22868929;22939629;22990118;23000965;23125841;23151878;23246001;23398456;23874603;24457600;24654937;24816145;6468376;7821789;8597591;8662616;8662617;8722009;9371517;9403071 6159 C9IYI4;F8WF43;P47914 ABBA01024516;AC115284;AK289538;AK311884;AMYH02006795;BC008926;BC018943;BC070190;BC070481;BC071663;BC071909;CH471055;D28412;NM_000992;U10248;U49083;Z49148 AAC50499;AAC50647;AAH08926;AAH70190;AAH70481;AAH71663;AAH71909;ABM84153;BAA05778;BAF82227;BAG34825;CAA89008;EAW65182;EAW65183;NP_000983;P47914 Hs.425125 2217924;5019020;5106629 D20S1103;G42918;RPL29_3440 HIP;HUMRPL29;L29;MGC88589;RPL29P10;RPL29_3_370 60S ribosomal protein L29;HP/HS-interacting protein;OTTHUMP00000212470;OTTHUMP00000212473;OTTHUMP00000212474;OTTHUMP00000212475;OTTHUMP00000212476;OTTHUMP00000212477;cell surface heparin-binding protein HIP;heparin/heparan sulfate-binding protein;heparin/heparan sulfate-interacting protein;ribosomal protein YL43 homologue APPROVED protein-coding ENSG00000162244 HGNC:10331 03495 601832 REVIEWED 2305908 RPL29P30 ribosomal protein L29 pseudogene 30 15 15 15 q23 47979754 47980380 - 71088859 71089485 - 70796520 70797146 - 19123937;21145461;21987572 729611 ABBA01038750;AC009269;AMYH02030721;CH471082;NG_010026 EAW77858 1652547 SGC30770 RPL29_20_1448 pseudo HGNC:36601 INFERRED 733961 RPL28 ribosomal protein L28 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L28E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008] 19 19 19 q13.4 52938123 52944274 + 55897300 55914616 + 55385932 55403245 + 1580863;6480464 11751223;12477932;12704204;12962325;14567916;14702039;15064750;15121898;15189156;15231748;15342556;15489334;15635413;16169070;16196087;16344560;16541025;17353931;17620599;18029348;18632687;19596686;19738201;19834535;19946888;20020773;20434207;21139048;21145461;21182205;21319273;21890473;21906983;21963094;21987572;21988832;22268729;22505724;22623428;22863883;23000965;23084401;23246001;23398456;23473034;24457600;24816145;25015289;4022011;7772601;7821789;8722009;8889548;9582194 6158 H0YKD8;H0YLP6;H0YMF4;P46779 AB007179;AB209627;ABBA01068098;AC020922;AK025866;AK096870;AK125297;AK293736;AK311760;AMYH02036464;BC010173;BC010182;BC011582;BC015398;BM702093;BP227047;CH471135;CR457024;D28451;DA092122;DA333143;DA820669;HI574010;NM_000991;NM_001136134;NM_001136135;NM_001136136;NM_001136137;U14969;XM_005259132 AAA85657;AAH10173;AAH10182;AAH11582;ABM83969;ABM87286;BAA05817;BAA25838;BAD92864;BAG34703;BAG57160;CAG33305;CBX47494;EAW72374;EAW72375;EAW72376;NP_000982;NP_001129606;NP_001129607;NP_001129608;NP_001129609;P46779;XP_005259189 Hs.652114 1769522;1769524;1850152;2122132;2142284;5022588;5113801;5118802 D11S3665;D19S1019;D5S1597E;G18045;RH15813;RP_L28_1;STS-Z40699;WI-15387 FLJ43307;L28 60S ribosomal protein L28 APPROVED protein-coding ENSG00000108107 HGNC:10330 04702 603638 REVIEWED 2303320 RPL29P3 ribosomal protein L29 pseudogene 3 14 14 14 q13.3 16910142 16910783 - 37046599 37047240 - 36577394 36578035 - 19123937 729042 ABBA01061527;AL079303;AMYH02029026;NG_009496 RPL29_19_1356 pseudo HGNC:23565 INFERRED 2305635 RPL29P31 ribosomal protein L29 pseudogene 31 17 17 17 q21.31 38263218 38263833 + 41553522 41554137 + 43476154 43476769 + 19123937 284064 ABBA01028412;AC087650;AMYH02033459;NG_010842 RPL29_11_1549 pseudo HGNC:35944 INFERRED 2304506 RPL29P32 ribosomal protein L29 pseudogene 32 18 18 18 q21.2 47987719 47988078 - 51131644 51132003 - 53605274 53605633 - 19123937 390856 ABBA01018708;AC015524;AMYH02034748;NG_009579 RPL29_21_1603 pseudo HGNC:35834 INFERRED 2305521 RPL29P33 ribosomal protein L29 pseudogene 33 19 19 19 q13.11 31488810 31489428 - 34787071 34787689 - 34296166 34296784 - 19123937 401911 ABBA01004334;AC010614;AMYH02035955;NG_011283 RPL29_22_1650 pseudo HGNC:36923 INFERRED 1343829 RPL29P4 ribosomal protein L29 pseudogene 4 6 6 6 q22.2 119063055 119063714 + 118320091 118320745 + 117998928 117999582 + 19123937 387101 ABBA01026030;AL450405;AMYH02014365;NG_006976 RPL29P3;RPL29_6_745;bA632C17A.1 pseudo HGNC:21482 INFERRED 2304397 RPL29P6 ribosomal protein L29 pseudogene 6 1 1 1 p36.12 21893357 21893973 + 23571222 23571838 + 23244729 23245345 + 19123937 391019 ABBA01059865;AL109936;AMYH02000489;NG_010556 RPL29_1_20 pseudo HGNC:36627 INFERRED 2304979 RPL29P9 ribosomal protein L29 pseudogene 9 3 3 3 q27.3 185072167 185072815 - 186639941 186640589 - 186922152 186922800 - 19123937 647285 ABBA01058379;AC007690;AMYH02008356;NG_010609 2112658 D3S4390 RPL29_4_447 pseudo HGNC:35729 INFERRED 2305262 RPL29P7 ribosomal protein L29 pseudogene 7 1 1 1 q24.2 142017462 142018093 + 168907654 168908285 + 168938416 168939047 + 19123937 100270972 ABBA01027957;AL135926;AMYH02002111;NG_010639 1692154 AL033711 RPL29_3_121 pseudo HGNC:36859 INFERRED 2305259 RPL30P1 ribosomal protein L30 pseudogene 1 1 1 1 q25.1 147168731 147169069 - 174059272 174059610 - 174090134 174090472 - 19123937 100270975 ABBA01027889;AL121983;AMYH02002164;NG_010656 RPL30_1_127 pseudo HGNC:36642 INFERRED 731558 RPL30 ribosomal protein L30 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 8 8 8 q22 95239859 95243700 - 99053938 99057818 - 98041710 98045590 - 6480464 11875025;12477932;12777385;12962325;14567916;14743216;15064750;15189156;15489334;1577483;16196087;16341674;16964243;16968546;17342744;17620599;18029348;18274552;19738201;19946888;19953087;20554519;21139048;21145461;21151833;21319273;21832049;21853274;21890473;21906983;21942715;21963094;21987572;21988832;22139155;22145905;22505724;22586326;22623428;22863883;22939629;22944692;23000965;23151878;23246001;23398456;23443559;23463506;24457600;24550385;24583282;24657165;24816145;25015289;7821789;8722009;9582194 6156 E5RI99;E5RJH3;P62888 AB070559;ABBA01037529;ABBA01037530;AK308890;AK312102;AL049968;AMYH02018479;AP003352;BC032700;BC095426;BM785413;BQ055546;CH471060;D28438;L05095;NM_000989;X79238 AAC15858;AAH32700;AAH95426;BAA05804;BAB79491;BAG35038;CAA55820;EAW91769;EAW91770;EAW91771;NP_000980;P62888 Hs.400295 1722047;1735752;2159314;2167937;2189339;5037552 D8S1364E;D8S1655;D8S1959;D8S2279;G59910;MARC_1295-1296:991931143:1 L30 60S ribosomal protein L30;OTTHUMP00000227550;OTTHUMP00000227601;OTTHUMP00000227629;OTTHUMP00000227630 APPROVED protein-coding ENSG00000156482 HGNC:10333 01595 180467 REVIEWED 2305252 RPL30P10 ribosomal protein L30 pseudogene 10 8 8 8 q12.1 54298578 54298914 + 58305105 58305441 + 57392546 57392882 + 19123937 100270982 ABBA01041779;AC068075;AMYH02018027;NG_010695 RPL30_5_906 pseudo HGNC:36822 INFERRED 2304839 RPL30P12 ribosomal protein L30 pseudogene 12 12 12 12 q23.3 106970118 106970473 + 107304535 107304890 + 106910757 106911112 + 19123937 100271304 ABBA01053160;AC007695;AMYH02027137;NG_011034 RPL30_6_1274 pseudo HGNC:36909 INFERRED 2304733 RPL30P14 ribosomal protein L30 pseudogene 14 18 18 18 q21.33 55789928 55790395 - 59072041 59072508 - 61404808 61405275 - 19123937 100129867 ABBA01056185;AC006203;AMYH02034856;NG_010405 2167937;2189339 D8S1655;MARC_1295-1296:991931143:1 RPL30_8_1609 pseudo HGNC:36257 INFERRED 2305000 RPL30P15 ribosomal protein L30 pseudogene 15 X X X p22 17709866 17710296 + 13592760 13593190 + 13574641 13575071 + 19123937 100271192 ABBA01071118;AC079383;AMYH02038896;NG_010459;NG_015963 RPL30_7_1765 pseudo HGNC:36542 INFERRED 2304840 RPL30P11 ribosomal protein L30 pseudogene 11 12 12 12 p13.1 19654891 19655163 - 14509799 14510071 - 14356865 14357137 - 19123937 100271303 ABBA01067875;AC007782;AMYH02026091;NG_011030 RPL30_6_1213 pseudo HGNC:36260 INFERRED 7243372 RPL30P16 ribosomal protein L30 pseudogene 16 8 8 8 q23.3 109737699 109738127 + 113551118 113551543 + 112538889 112539314 + 100289099 ABBA01037740;AC087710;AMYH02018626;NG_030257 pseudo HGNC:48340 INFERRED 2305619 RPL29P5 ribosomal protein L29 pseudogene 5 1 1 1 p31.1 74287593 74288214 + 76047736 76048357 + 75582051 75582672 + 19123937 646417 ABBA01074420;AL096829;AMYH02001278;NG_010073 RPL29_2_63 pseudo HGNC:36786 INFERRED 2305258 RPL30P2 ribosomal protein L30 pseudogene 2 2 2 2 q23.3 146602741 146603061 + 152988078 152988398 + 152131564 152131884 + 19123937 100270976 ABBA01004787;AC079790;AMYH02004992;NG_010662 RPL30_1_286 pseudo HGNC:35642 INFERRED 2305601 RPL30P4 ribosomal protein L30 pseudogene 4 3 3 3 p22.3 32613753 32614211 - 32676657 32677131 - 32635165 32635639 - 19123937 100131230 ABBA01024934;AC138972;AMYH02006502;NG_009720 2167937;2189339 D8S1655;MARC_1295-1296:991931143:1 RPL30_3_359 pseudo HGNC:35871 INFERRED 2305257 RPL30P3 ribosomal protein L30 pseudogene 3 2 2 2 p25 9136105 9136507 - 9221522 9221924 - 9081393 9081795 - 19123937 100270977 ABBA01015574;AC093904;AMYH02003245;NG_010666 RPL30_2_193 pseudo HGNC:36380 INFERRED 2305256 RPL30P5 ribosomal protein L30 pseudogene 5 4 4 4 q21.23 81714284 81714619 + 84423852 84424187 + 83502699 83503034 + 19123937 100270978 ABBA01063465;AC096768;AMYH02009619;NG_010673 RPL30_2_497 pseudo ENSG00000239525 HGNC:36302 INFERRED 2305254 RPL30P6 ribosomal protein L30 pseudogene 6 4 4 4 q22.3 93862719 93863057 - 96566103 96566441 - 95644952 95645290 - 19123937 100270980 ABBA01063634;AC093832;AMYH02009763;NG_010684 RPL30_4_501 pseudo HGNC:37015 INFERRED 1345939 RPL3 ribosomal protein L3 Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 22 22 22 q13 23511001 23517786 - 39708887 39715670 - 39312882 39319665 - 1580863;6480464 10591208;10684968;11401437;11790298;12477932;12777385;12962325;14567916;14702039;15189156;1538749;15461802;15489334;15592455;15635413;16196087;16364039;16963496;17220478;17267499;17353931;17620599;18029348;18729074;18781797;19394292;19460752;19596686;19738201;20020773;20085233;20100605;21081666;21110914;21139048;21139332;21145461;21182205;21252943;21319273;21705779;21890473;21906983;21963094;21987572;21988832;22174317;22178446;22505724;22586326;22751105;22797925;22863883;22939629;22944692;22952844;23000965;23084401;23125841;23246001;23255119;23349634;23398456;23443559;24457600;24657165;24690621;24816145;25015289;25027693;2891103;7576925;8076819;8722009;8921388;9582194 6122 B3KS36;B5MCW2;F8WCR1;G5E9G0;H7C3M2;H7C422;P39023;Q96QL0 AB007166;AB062291;AB266619;ABBA01055560;AJ238852;AK092695;AK297711;AK315693;AL022326;AL832757;AMYH02038377;AY320405;BC002408;BC004323;BC006483;BC008003;BC008492;BC012146;BC012786;BC013674;BC013861;BC014017;BC015032;BC015767;BC022790;BC033296;BC036582;BC063662;BC071666;BC088373;BC107711;BC127794;BU584440;CH471095;CR456566;L22453;M90054;NM_000967;NM_001033853;X73460 AAA60291;AAA91344;AAH02408;AAH04323;AAH06483;AAH08003;AAH08492;AAH12146;AAH12786;AAH13674;AAH14017;AAH15032;AAH15767;AAH22790;AAH36582;AAH63662;AAH88373;AAI07712;AAP73807;BAA25828;BAB93474;BAG38056;BAG52598;BAG60068;BAM21009;CAA51839;CAB76201;CAG30452;CAK54597;CAK54896;EAW60310;EAW60311;EAW60312;EAW60313;EAW60314;EAW60315;EAW60316;EAW60317;EAW60318;EAW60319;EAW60320;NP_000958;NP_001029025;P39023 Hs.119598 1686364;1747521;1747523;1747525;2158857;2158884;2191741;5013990;5014810;5015619;5022068;5037552;5122581 D11S3114;D14S1219;D17S1982;D17S891E;D22S1257;D8S2279;G65385;G65386;G65387;MARC_6327-6328:996689678:1;RH66576;RP_L3_1;SGC33142 ASC-1;L3;MGC104284;TARBP-B 60S ribosomal protein L3;HIV-1 TAR RNA-binding protein B;OTTHUMP00000199074;OTTHUMP00000199075;OTTHUMP00000199076;hypothetical protein;ribosomal protein L3, isoform a APPROVED protein-coding ENSG00000100316 HGNC:10332 16042 604163 REVIEWED 2305255 RPL30P7 ribosomal protein L30 pseudogene 7 5 5 5 p15.2 10526957 10527395 + 10488864 10489302 + 10488752 10489190 + 19123937 100270979 ABBA01020601;AC092336;AMYH02010851;NG_010677 RPL30_3_541 pseudo HGNC:36402 INFERRED 2304965 RPL30P8 ribosomal protein L30 pseudogene 8 6 6 6 q21 114892418 114897362 + 114151025 114155968 + 113829822 113834765 + 19123937;21145461 100132053 ABBA01026064;AL132660;AL671966;AMYH02014332;FO393415;NG_011102 1334888;7185376 D6S261 RPL30_4_741 pseudo HGNC:36058 INFERRED 2305253 RPL30P9 ribosomal protein L30 pseudogene 9 8 8 8 p22 18933792 18934113 - 19970847 19971168 - 20113336 20113657 - 19123937 100270981 ABBA01021551;AC100802;AMYH02017569;NG_010689 RPL30_5_882 pseudo HGNC:35763 INFERRED 2304838 RPL30P13 ribosomal protein L30 pseudogene 13 12 12 12 q12 39265259 39265677 - 40462042 40462460 - 40068240 40068658 - 19123937 100271305 ABBA01049541;AC117403;AMYH02026336;NG_011039 1799034;1800820;1911148;1911150;1911152;1911154;1911156;1911158;1911160;1911162;1911164;1911166;1911168;1911170;2200686;2200688 ECD00362;ECD01272;REN26383;REN26384;REN26385;REN26386;REN26387;REN26388;REN26389;REN26390;REN26391;REN26392;REN26393;REN26394;stSG619760;stSG619761 RPL30_7_1228 pseudo HGNC:36280 INFERRED 1347165 RPL31P1 ribosomal protein L31 pseudogene 1 21 21 21 q22.3 30077606 30078054 + 44971078 44971526 + 43551197 43551645 + 10830953;19123937 54027 ABBA01074126;AP001050;AP001751;NG_000908;NG_011491 RPL31P;RPL31_35_1734 pseudo HGNC:10335 INFERRED 1603146 RPL31P10 ribosomal protein L31 pseudogene 10 12 12 12 p13.31 8136036 8136480 - 6518762 6519206 - 6409596 6410040 - 19123937 390283 ABBA01017642;AC005840;AMYH02025951;NG_009396 RPL31_15_1198 pseudo HGNC:33180 INFERRED 2305251 RPL31P13 ribosomal protein L31 pseudogene 13 1 1 1 q32.3 186823427 186823774 - 213602060 213602407 - 213428717 213429064 - 19123937 100270983 ABBA01048155;AL592402;AMYH02002659;NG_010703 RPL31_2_164 pseudo HGNC:35598 INFERRED 2305729 RPL31P11 ribosomal protein L31 pseudogene 11 1 1 1 q23.3 134756932 134758490 - 161653485 161655042 - 161683695 161685252 - 12477932;19123937 641311 ABBA01047315;AC243971;AL359541;AL451067;BC052594;NR_002595 Hs.625293 5127449 D2S2662 RPL31_1_108 pseudo ENSG00000213075 HGNC:35849 PROVISIONAL 2305250 RPL31P15 ribosomal protein L31 pseudogene 15 2 2 2 qter 177249067 177249401 + 183652828 183653162 + 182788101 182788435 + 19123937 100270984 ABBA01062301;AC105396;AMYH02005372;NG_010707 RPL31_3_303 pseudo HGNC:36339 INFERRED 2305341 RPL31P14 ribosomal protein L31 pseudogene 14 2 2 2 q35 211418357 211418801 - 217650458 217650902 - 216785735 216786179 - 19123937 100129310 ABBA01062825;AC007563;AMYH02005767;NG_010159 RPL31_4_324 pseudo HGNC:35477 INFERRED 2305091 RPL29P8 ribosomal protein L29 pseudogene 8 2 2 2 q31.1 171274132 171276846 - 177671762 177674476 - 176807034 176809748 - 19123937 100131991 ABBA01062225;AC092162;AMYH02005304;CH471058;NG_010798 EAX11069 RPL29_1_300 pseudo HGNC:37026 INFERRED 2305222 RPL31P16 ribosomal protein L31 pseudogene 16 2 2 2 p22.2 37262259 37262925 - 37421236 37421902 - 37194093 37194759 - 19123937 100129418 ABBA01074978;AC007390;AMYH02003615;NG_010720 RPL31_3_207 pseudo HGNC:36001 INFERRED 2305578 RPL31P17 ribosomal protein L31 pseudogene 17 2 2 2 q36.1 217359065 217359510 + 223591149 223591594 + 222726430 222726875 + 6480464 19123937 653773 ABBA01023812;AC016712;AMYH02005863;NG_011063 RPL31_4_330 pseudo HGNC:36995 INFERRED 2305249 RPL31P19 ribosomal protein L31 pseudogene 19 3 3 3 p24.3 17445564 17445981 + 17506623 17507040 + 17465131 17465548 + 19123937 100270985 ABBA01025123;AC140076;AMYH02006350;NG_010711 RPL31_5_346 pseudo HGNC:35589 INFERRED 1345226 RPL31P2 ribosomal protein L31 pseudogene 2 20 20 20 q11.2 29092651 29093090 - 32339934 32340373 - 33752128 33752567 - 19123937 140753 ABBA01019219;AL050349;AMYH02036958;NG_000996 RPL31_25_1695;dJ553F4.5 pseudo HGNC:16575 INFERRED 2305393 RPL31P12 ribosomal protein L31 pseudogene 12 1 1 1 p31.1 81995667 81996093 - 72767128 72767554 + 72301445 72301871 + 19123937 100270887 ABBA01074458;AL512292;NG_010207 RPL31_1_62 pseudo HGNC:35546 INFERRED 2305246 RPL31P21 ribosomal protein L31 pseudogene 21 3 3 3 q23 139400708 139401069 + 140977260 140977621 + 141258418 141258779 + 19123937 100270988 ABBA01059049;AC022215;AMYH02007802;NG_010728 RPL31_8_410 pseudo HGNC:36245 INFERRED 2305248 RPL31P20 ribosomal protein L31 pseudogene 20 3 3 3 p24.2 24408023 24408365 + 24472257 24472599 + 24430766 24431108 + 19123937 100270986 ABBA01025030;AC112217;AMYH02006411;NG_010717 RPL31_6_349 pseudo HGNC:36303 INFERRED 2305245 RPL31P22 ribosomal protein L31 pseudogene 22 3 3 3 q29 193478804 193479159 + 195070404 195070759 + 195349675 195350030 + 19123937 100270989 ABBA01001611;AC090018;AMYH02008466;NG_010734 RPL31_9_449 pseudo HGNC:36430 INFERRED 2304998 RPL31P24 ribosomal protein L31 pseudogene 24 4 4 4 q22 86376310 86376781 + 89084691 89085162 + 88163539 88164010 + 19123937 100271194 ABBA01063545;AC097484;AMYH02009687;NG_010468;NG_032067 RPL31_11_499 pseudo HGNC:36353 INFERRED 2305247 RPL31P25 ribosomal protein L31 pseudogene 25 4 4 4 p15.31 22108587 22108912 - 21658146 21658471 - 21656523 21656848 - 19123937 100270987 ABBA01032655;AC096576;AMYH02008869;NG_010723 1668220;1771387 SHGC-30526;STS-F04275 RPL31_6_464 pseudo HGNC:36698 INFERRED 734080 RPL31 ribosomal protein L31 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 95822605 95840060 + 101618691 101636155 + 101002229 101019693 + 6480464 11746496;11790298;11875025;12477932;12777385;12962325;14567916;15146197;15189156;15489334;15592455;15815621;16189514;16196087;16344560;17081983;17353931;17620599;18274552;18457437;19471022;19738201;19946888;20020773;21078624;21139048;21145461;21151833;21319273;21642987;21693764;21832049;21890473;21906983;21963094;21988832;22354994;22939629;23000965;23151878;23184937;23246001;23398456;23438482;23443559;23455922;23463506;24457600;24816145;2597680;2780320;7821789;8722009;8889548;9582194 6160 B7Z4C8;B7Z4E3;B8ZZK4;C9JU56;H7C2W9;P62899 AB007180;AB061830;ABBA01073920;AC016738;AK297167;AK297247;AK297483;AK311775;AMYH02004418;BC001663;BC017343;BC070210;BC070373;BE564858;BG031488;BG223187;CD108396;CD247800;CF124259;CH471127;CN269912;CN269915;D28386;DA869102;NM_000993;NM_001098577;NM_001099693;X15940;X69181 AAH17343;AAH70210;AAH70373;AAY14823;ABM83535;ABM86775;BAA05752;BAA25839;BAB79468;BAG34718;BAH12514;BAH12529;BAH12588;CAA34066;CAA48925;EAX01826;EAX01827;EAX01828;EAX01829;NP_000984;NP_001092047;NP_001093163;P62899 Hs.469473 1662273;1694594;1703190;1734880;1744347;1778031;1848335;2106699;2135394;2145067;2150963;2170665;5020883;5127449 A005M35;D2S1646E;D2S2662;G43290;GDB:451770;HSC1GA012;RH12325;RH70503;RP_L31_1;SGC30319;SGC32211;TBC1D8__5222;WI-18129;WIAF-2217 L31;MGC88191 60S ribosomal protein L31;OTTHUMP00000161274;OTTHUMP00000202930;OTTHUMP00000202933;OTTHUMP00000202939;OTTHUMP00000202940;OTTHUMP00000202941;OTTHUMP00000202942;OTTHUMP00000202943 APPROVED protein-coding ENSG00000071082 HGNC:10334 17994 REVIEWED 2305866 RPL31P26 ribosomal protein L31 pseudogene 26 4 4 4 q31.22 145668214 145668647 - 148347082 148347515 - 147425930 147426363 - 19123937 100130537 ABBA01070057;AC010683;AMYH02010272;NG_011206 RPL31_7_527 pseudo HGNC:36063 INFERRED 2305697 RPL31P28 ribosomal protein L31 pseudogene 28 6 6 6 p12.1 54881620 54882065 + 53219459 53219904 + 53354661 53355106 + 19123937 442217 ABBA01050537;AL034374;AMYH02013748;NG_010544 RPL31_12_703 pseudo HGNC:36253 INFERRED 2305244 RPL31P29 ribosomal protein L31 pseudogene 29 6 6 6 q25.2 155661062 155661365 - 154926759 154927062 - 154605625 154605928 - 19123937 100270990 ABBA01025592;AL591419;AMYH02014773;NG_010740 RPL31_9_773 pseudo HGNC:36647 INFERRED 2304995 RPL31P27 ribosomal protein L31 pseudogene 27 6 6 6 q24.2 144388777 144389238 + 143648371 143648832 + 143327234 143327695 + 19123937 100271198 ABBA01025751;AL136116;AMYH02014634;NG_010490 RPL31_15_765 pseudo HGNC:36275 INFERRED 1353886 RPL31P3 ribosomal protein L31 pseudogene 3 20 20 20 p11-q11 26655273 26656124 - 29899007 29899858 - 31311204 31312055 - 19123937 140718 ABBA01019310;AL031650;AMYH02036892;NG_000989 RPL31_24_1693;dJ1018D12.4 pseudo HGNC:16549 INFERRED 2304495 RPL31P30 ribosomal protein L31 pseudogene 30 2 2 2 p15 61928741 61929108 + 62083830 62084197 + 61856695 61857062 + 19123937 729203 ABBA01075372;AC107081;AMYH02003936;NG_011371;NG_028125 RPL31_2_226 pseudo HGNC:35679 INFERRED 2304513 RPL31P18 ribosomal protein L31 pseudogene 18 3 3 3 p22.3 32486512 32486943 + 32549423 32549854 + 32507931 32508362 + 19123937 285260 ABBA01024939;AC104306;AMYH02006497;NG_010408 RPL31_7_358 pseudo HGNC:35833 INFERRED 2305718 RPL31P31 ribosomal protein L31 pseudogene 31 4 4 4 p15.1 34409449 34409869 + 33969769 33970189 + 33968147 33968567 + 19123937 727792 ABBA01074275;AC016687;AMYH02009002;NG_011387 RPL31_10_468 pseudo HGNC:35678 INFERRED 2305815 RPL31P23 ribosomal protein L31 pseudogene 23 3 3 3 q22.3 134349697 134350141 - 135924331 135924775 - 136205489 136205933 - 19123937 391581 ABBA01059130;AC092991;AMYH02007740;NG_009581 RPL31_5_407 pseudo HGNC:36096 INFERRED 2305689 RPL31P32 ribosomal protein L31 pseudogene 32 6 6 6 q14.3 86394195 86394648 + 85967006 85967459 + 85257288 85257741 + 19123937 643851 ABBA01040472;AL122016;AMYH02014034;NG_011350 RPL31_14_719 pseudo HGNC:35719 INFERRED 2305696 RPL31P33 ribosomal protein L31 pseudogene 33 6 6 6 p12.1 54895623 54895979 + 53233468 53233824 + 53368670 53369026 + 19123937 442218 ABBA01050537;AL591034;AMYH02013748;NG_011369 RPL31_13_704 pseudo HGNC:36886 INFERRED 2304994 RPL31P35 ribosomal protein L31 pseudogene 35 7 7 7 p11.2 54829630 54830090 + 54724008 54724468 + 54656315 54656775 + 19123937;23251661 100271199 ABBA01011844;AC011228;AMYH02015727;CH236957;NG_010493 RPL31_16_810 pseudo HGNC:36932 INFERRED 2304963 RPL31P36 ribosomal protein L31 pseudogene 36 7 7 7 q32 125955826 125956258 + 131204873 131205305 + 131520114 131520546 + 19123937 100271200 ABBA01057558;AC008264;AMYH02016771;CH236950;NG_010497 RPL31_19_846 pseudo HGNC:36676 INFERRED 2304999 RPL31P34 ribosomal protein L31 pseudogene 34 7 7 7 p22.1 6204462 6204822 + 6530372 6530732 - 6490741 6491101 - 19123937 100271193 ABBA01056492;AC072052;AMYH02015177;CH236963;NG_010464 RPL31_10_781 pseudo HGNC:35853 INFERRED 2305505 RPL31P37 ribosomal protein L31 pseudogene 37 7 7 7 q31.32 116683809 116684249 + 121874562 121875002 + 122234508 122234948 + 19123937;9847074 646787 ABBA01057750;AC015983;AMYH02016672;CH236947;NG_009411 RPL31_18_839 pseudo HGNC:36197 INFERRED 2305662 RPL31P38 ribosomal protein L31 pseudogene 38 7 7 7 q11.21 65736239 65736652 - 66379557 66379970 + 66914570 66914983 + 19123937 442326 ABBA01048961;AC073335;AMYH02015914;NG_011108 RPL31_17_813 pseudo HGNC:36834 INFERRED 1602626 RPL31P4 ribosomal protein L31 pseudogene 4 14 14 14 q23.1 39311371 39311812 + 59261348 59261789 + 58794630 58795071 + 19123937 729646 ABBA01018267;AL049873;AMYH02029285;NG_009376 1647635;2167467 G36280;T02877 RPL31_28_1375 pseudo HGNC:23546 INFERRED 2304997 RPL31P40 ribosomal protein L31 pseudogene 40 8 8 8 q13.2 65199111 65199390 - 69205772 69206051 - 68293537 68293816 - 19123937 100271196 ABBA01041911;AC103783;AMYH02018146;NG_010480 RPL31_12_911 pseudo HGNC:36134 INFERRED 2305594 RPL31P39 ribosomal protein L31 pseudogene 39 7 7 7 q31.33 119747882 119748323 - 124940517 124940958 - 125300463 125300904 - 19123937 641790 ABBA01057701;AC010099;AMYH02016693;CH236947;NG_009415 RPL31_11_842 pseudo HGNC:35995 INFERRED 2304962 RPL31P41 ribosomal protein L31 pseudogene 41 8 8 8 q13.1 62058325 62058696 + 66067642 66068013 + 65155407 65155778 + 19123937 100271201 ABBA01041858;AC104343;AMYH02018089;NG_010501 RPL31_20_909 pseudo HGNC:36720 INFERRED 2305362 RPL31P44 ribosomal protein L31 pseudogene 44 10 10 10 q21.1 47411868 47412328 - 54148825 54149285 - 52389065 52389525 - 19123937 644522 ABBA01052512;AC009986;AMYH02023087;NG_010889 RPL31_14_1046 pseudo HGNC:35523 INFERRED 2305522 RPL31P43 ribosomal protein L31 pseudogene 43 9 9 9 q31.2 81301439 81301884 + 110802466 110802911 + 108040185 108040630 + 19123937 392382 ABBA01042779;AC068050;AMYH02021425;NG_010985 RPL31_21_1004 pseudo HGNC:36512 INFERRED 2304412 RPL31P45 ribosomal protein L31 pseudogene 45 10 10 10 p12.31 22243632 22243847 + 22555919 22556134 + 22266990 22267205 + 11181995;19123937 729308 ABBA01034482;AL158211;AMYH02022431;CH471072;NG_011137 EAW86156;EAW86157 RPL31_22_1025 pseudo HGNC:36796 INFERRED 2304660 RPL31P46 ribosomal protein L31 pseudogene 46 11 11 11 q13.4 71937183 71937614 + 74630620 74631051 + 74919575 74920006 + 19123937 100271479 ABBA01017477;AP001992;NG_010617 RPL31_23_1157 pseudo HGNC:35559 INFERRED 2304658 RPL31P47 ribosomal protein L31 pseudogene 47 11 11 11 q24.1 120081162 120081520 + 122921834 122922192 + 123051126 123051484 + 19123937 100271481 ABBA01031277;AMYH02025709;AP000926;NG_010626 RPL31_24_1186 pseudo HGNC:36124 INFERRED 2304732 RPL31P49 ribosomal protein L31 pseudogene 49 12 12 12 q24.11 110525526 110525967 + 110898765 110899206 + 110460960 110461401 + 6480464 19123937 100129882 ABBA01005109;AC002350;AMYH02027185;NG_010470 RPL31_26_1276 pseudo HGNC:35909 INFERRED 2305912 RPL31P48 ribosomal protein L31 pseudogene 48 12 12 12 q21.1 73706777 73707223 + 74042420 74042866 + 73648640 73649086 + 19123937;23251661 645654 ABBA01026485;AC087879;AMYH02026756;NG_011352 1657833;1671774 D12S2203;D12S303 RPL31_25_1257 pseudo HGNC:36129 INFERRED 2303836 RPL31P5 ribosomal protein L31 pseudogene 5 14 14 14 q23.2 44085299 44085667 + 64034630 64034998 + 63567912 63568280 + 19123937 100129928 ABBA01018329;AL136038;AMYH02029339;NG_009395 2154107 G35771 RPL31_29_1379 pseudo HGNC:23547 INFERRED 2304663 RPL31P52 ribosomal protein L31 pseudogene 52 12 12 12 q24.2 120522961 120523316 - 120888248 120888603 - 120450445 120450800 - 19123937 100271476 ABBA01020121;AL021546;AMYH02027375;NG_010601 RPL31_18_1289 pseudo HGNC:36607 INFERRED 2304656 RPL31P54 ribosomal protein L31 pseudogene 54 13 13 13 q22.3 59895393 59895744 + 78996958 78997309 + 78422823 78423174 + 19123937 100271483 ABBA01021678;AL391989;AMYH02028325;NG_010636 RPL31_27_1326 pseudo HGNC:36077 INFERRED 2304662 RPL31P53 ribosomal protein L31 pseudogene 53 13 13 13 q21.1 38919845 38920198 - 57965299 57965652 - 57391165 57391518 - 19123937 100271477 ABBA01037016;AL390965;AMYH02028106;NG_010607 RPL31_19_1315 pseudo HGNC:35749 INFERRED 2304664 RPL31P51 ribosomal protein L31 pseudogene 51 12 12 12 q13 53676556 53676999 - 54026519 54026962 - 53632735 53633178 - 19123937 100271475 ABBA01008350;AC073594;AMYH02026527;NG_010594 RPL31_17_1239 pseudo HGNC:35600 INFERRED 2305740 RPL31P50 ribosomal protein L31 pseudogene 50 12 12 12 p11.21 11572384 11572686 - 31750040 31750342 - 31597106 31597408 - 11181995;19123937 341356 ABBA01031747;AC022080;AMYH02026279;CH471116;NG_006023 EAW88551 RPL31_16_1224 pseudo HGNC:36799 INFERRED 2305834 RPL31P55 ribosomal protein L31 pseudogene 55 15 15 15 q26.2 73407560 73407964 + 96991356 96991760 + 96448126 96448530 + 19123937 100128250 ABBA01032421;AC087477;AMYH02031117;NG_011296 RPL31_31_1463 pseudo HGNC:36982 INFERRED 2304661 RPL31P56 ribosomal protein L31 pseudogene 56 16 16 16 q11.2-q13 39900873 39901174 - 55386633 55386934 - 55352721 55353022 - 19123937 100271478 ABBA01066522;AC109462;AMYH02032074;NG_010612 RPL31_20_1484 pseudo HGNC:36336 INFERRED 2304655 RPL31P58 ribosomal protein L31 pseudogene 58 17 17 17 q11 23989332 23989761 + 27129445 27129874 + 28802427 28802856 + 19123937 100271485 ABBA01015041;AC010761;AMYH02033229;NG_010646 RPL31_32_1533 pseudo HGNC:35862 INFERRED 2304659 RPL31P59 ribosomal protein L31 pseudogene 59 18 18 18 p11.3 3257498 3257819 - 3377924 3378245 - 3377926 3378247 - 19123937 100271480 ABBA01049851;AMYH02034223;AP001025;NG_010620 RPL31_23_1580 pseudo HGNC:36975 INFERRED 2305803 RPL31P57 ribosomal protein L31 pseudogene 57 17 17 17 q23.3 56773865 56774305 - 62385636 62386076 - 64308276 64308716 - 11181995;19123937 645993 ABBA01035304;AC016489;AMYH02033790;CH471109;NG_010546 EAW94209 RPL31_21_1570 pseudo HGNC:35703 INFERRED 2303846 RPL31P6 ribosomal protein L31 pseudogene 6 15 15 15 q26.1 69674402 69674683 + 93262661 93262942 + 92719431 92719712 + 19123937 654387 ABBA01053095;AC091544;AMYH02031074;NG_009390 HsT19508;RPL31_30_1462 pseudo HGNC:31032 INFERRED 2304996 RPL31P42 ribosomal protein L31 pseudogene 42 9 9 9 p22.2 17037067 17037400 - 17108299 17108632 - 17108301 17108634 - 19123937 100271197 ABBA01065247;AL162725;AMYH02019233;NG_010485 RPL31_13_966 pseudo HGNC:36930 INFERRED 2304654 RPL31P60 ribosomal protein L31 pseudogene 60 19 19 19 q13.11 30148006 30148363 + 33454414 33454771 + 32963508 32963865 + 19123937 100271486 ABBA01039606;AC011449;AMYH02035930;NG_010653 1335734;1722869 D19S868;G60527 RPL31_33_1645 pseudo HGNC:36123 INFERRED 2304653 RPL31P61 ribosomal protein L31 pseudogene 61 19 19 19 q13.12 34176914 34177353 + 37392621 37393060 + 36901719 36902158 + 19123937 100271487 ABBA01016190;AC008733;AMYH02036027;NG_010658 RPL31_34_1652 pseudo HGNC:35635 INFERRED 2304657 RPL31P62 ribosomal protein L31 pseudogene 62 22 22 22 q11.1 1196788 1197110 - 17574505 17574827 - 17093615 17093937 - 19123937 100271482 ABBA01001459;AC006946;AMYH02037985;NG_010632;NG_028257 RPL31_26_1736 pseudo HGNC:36569 INFERRED 2304761 RPL31P63 ribosomal protein L31 pseudogene 63 X X X q13.1 68170929 68171374 + 67819914 67820359 + 68600072 68600517 + 19123937 100271392 ABBA01067370;AL732324;AMYH02039646;NG_010170 RPL31_36_1782 pseudo HGNC:35666 INFERRED 2303845 RPL31P7 ribosomal protein L31 pseudogene 7 17 17 17 q25.3 75204498 75204946 - 78576307 78576755 - 80602507 80602955 - 19123937 654391 ABBA01032118;AC109327;AC133012;AMYH02034112;NG_009391;NG_013034 RPL31_22_1578 pseudo HGNC:31325 INFERRED 2303340 RPL31P9 ribosomal protein L31 pseudogene 9 18 18 18 q22.1 61523272 61523419 - 64804848 64804995 - 67137611 67137758 - 619464 ABBA01056262;AC113195;AMYH02034909;NG_009519 pseudo HGNC:31893 INFERRED 1347993 RPL31P8 ribosomal protein L31 pseudogene 8 5 5 5 q12.1 56666804 56667243 - 59725690 59726129 - 60429863 60430302 - 19123937 253013 ABBA01015801;AC109486;AMYH02011368;NG_005654;NG_027957 RPL31_8_567 pseudo HGNC:31324 INFERRED 2305814 RPL32P10 ribosomal protein L32 pseudogene 10 3 3 3 q26.33 179037900 179038305 - 180605458 180605863 - 180887670 180888075 - 19123937 391595 ABBA01058513;AC108734;AMYH02008241;NG_010893 RPL32_3_439 pseudo HGNC:35641 INFERRED 1349837 RPL32P1 ribosomal protein L32 pseudogene 1 6 6 6 p21.3 34595851 34596563 + 33047076 33047788 + 33079299 33080011 + 19123937;2987832;3866218;6088068 6163 ABBA01038137;AL645931;AL662824;AL805913;AMYH02013477;BX120009;CR759795;CR759904;CR762479;CR847849;K03014;NG_000869;NG_033241;NG_033242;X02228 RPL32-L;RPL32P;RPL32_6_681 pseudo HGNC:10339 INFERRED 2304405 RPL32P12 ribosomal protein L32 pseudogene 12 4 4 4 p15.33 14115531 14116237 - 13649318 13650024 - 13647694 13648400 - 19123937 731741 ABBA01032545;AC006445;AMYH02008785;NG_010487 RPL32_4_459 pseudo HGNC:36600 INFERRED 1347014 RPL32 ribosomal protein L32 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L32E family of ribosomal proteins. It is located in the cytoplasm. Although some studies have mapped this gene to 3q13.3-q21, it is believed to map to 3p25-p24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p25-p24 12814735 12821372 - 12876444 12883081 - 12834945 12841582 - 6480464;8554872 10737800;11875025;12477932;12962325;14567916;15189156;15489334;15498874;16196087;17054774;17353931;19946888;20020773;21139048;21145461;21319273;21890473;21907836;22174317;22268729;22797925;22939629;23000965;23246001;23398456;24457600;24816145;3866218;7821789;8012384;8722009;8889548;9284913;9582194 6161 D3YTB1;D3YTI8;F8W727;P62910 AB061831;ABBA01025188;AC034198;AK124029;AK311909;AMYH02006302;BC011514;BC070209;BF960792;BQ068496;CA436299;CF124158;CH471055;D28385;NM_000994;NM_001007073;NM_001007074;X03342;Z56502 AAH11514;AAH70209;ABM82499;ABM85693;BAA05751;BAB79469;BAG34850;CAA27048;EAW64144;EAW64145;NP_000985;NP_001007074;NP_001007075;P62910 Hs.265174 1671993;1678689;1680296;1744101;1855525;2136842;2185840;2191469;5016679;5093016 A009E16;G32471;GDB:388554;MARC_23652-23653:1029502677:1;RH70808;RH93304;RH93531;SHGC-32188;SHGC-76713;WI-21041 L32;PP9932 60S ribosomal protein L32;OTTHUMP00000160235;OTTHUMP00000207904;OTTHUMP00000207905;OTTHUMP00000207906;OTTHUMP00000207907 APPROVED protein-coding ENSG00000144713 HGNC:10336 17995 REVIEWED 2305346 RPL32P11 ribosomal protein L32 pseudogene 11 3 3 3 p24.2 25727829 25728267 + 25790949 25791387 + 25749458 25749896 + 19123937 728572 ABBA01025016;AC092798;AMYH02006426;NG_011306;NG_034108 RPL32_2_350 pseudo HGNC:35723 INFERRED 2305241 RPL32P13 ribosomal protein L32 pseudogene 13 4 4 4 q25 110951313 110951744 + 113659831 113660262 + 112738675 112739106 + 19123937 100270993 ABBA01063821;AC017007;AMYH02009939;NG_010759 RPL32_4_510 pseudo HGNC:35950 INFERRED 2304731 RPL32P15 ribosomal protein L32 pseudogene 15 6 6 6 p21.1 42829117 42831466 - 41275696 41278043 - 41307958 41310305 - 19123937 100132265 ABBA01050760;AL672212;AMYH02013603;NG_010882 RPL32_5_690 pseudo HGNC:36119 INFERRED 2305240 RPL32P14 ribosomal protein L32 pseudogene 14 5 5 5 p14.3 19706125 19706457 + 19041145 19041477 + 19041036 19041368 + 19123937 100270994 ABBA01054560;AC106744;AMYH02010976;NG_010763 RPL32_5_546 pseudo HGNC:37038 INFERRED 2305727 RPL32P16 ribosomal protein L32 pseudogene 16 6 6 6 q25.1 152151134 152154908 + 151417295 151421069 + 151096159 151099933 + 19123937 646104 ABBA01025652;AL133260;AMYH02014716;NG_006650;NG_029185 1678689 RH93531 RPL32_7_768 pseudo HGNC:36086 INFERRED 2304636 RPL32P17 ribosomal protein L32 pseudogene 17 7 7 7 q36.1 142948210 142956753 + 148277493 148286036 + 148580401 148588944 + 12690205;19123937 402716 AACC02000041;ABBA01033596;AC005229;AMYH02017025;NG_010146 EAL24419 RPL32_9_862 pseudo HGNC:36251 INFERRED 2304864 RPL32P18 ribosomal protein L32 pseudogene 18 7 7 7 p13 44606445 44607583 + 44507442 44508580 + 44467843 44468981 + 11181995;19123937;23443559 644907 ABBA01058218;AC004453;AMYH02015619;CH236960;CH471128;NG_010235 EAW61102 RPL32_8_807 pseudo HGNC:36301 INFERRED 2305556 RPL32P20 ribosomal protein L32 pseudogene 20 INTERACTS WITH zinc atom; zinc(0) 8 8 8 q24.22 130515624 130516031 + 134338240 134338647 + 133325997 133326404 + 6480464 19123937 392271 ABBA01014197;AF192304;AMYH02018812;KC877373;NG_010427 RPL32_12_951 pseudo HGNC:35934 INFERRED 2303444 RPL32P2 ribosomal protein L32 pseudogene 2 15 15 15 q14 11180557 11181065 - 34378059 34378567 - 34085858 34086366 - 19123937 654388 ABBA01038545;AC079203;AMYH02030148;NG_009533 HsT20607;RPL32_9_1423 pseudo HGNC:31033 INFERRED 2305902 RPL32P21 ribosomal protein L32 pseudogene 21 9 9 9 p13.2 36980193 36980600 + 37046832 37047239 + 37046835 37047242 + 19123937 100128004 ABBA01050409;AL161781;AMYH02019483;NG_009980 RPL32_13_977 pseudo HGNC:36363 INFERRED 2304859 RPL32P22 ribosomal protein L32 pseudogene 22 9 9 9 q32 85623858 85624359 + 115124895 115125396 + 112362615 112363116 + 19123937 644996 ABBA01042705;AL359073;AMYH02021485;NG_010687 RPL32_14_1010 pseudo HGNC:36694 INFERRED 2305624 RPL32P23 ribosomal protein L32 pseudogene 23 10 10 10 p15.1 6042867 6043277 - 6113474 6113884 - 6071511 6071921 - 19123937 644020 ABBA01034769;AL157395;AMYH02022053;NG_010936 RPL32_6_1020 pseudo HGNC:36007 INFERRED 2304650 RPL32P25 ribosomal protein L32 pseudogene 25 11 11 11 q21 92994762 92995167 + 95696383 95696788 + 95963219 95963624 + 19123937 100271490 ABBA01040009;AMYH02025388;AP000870;NG_010675 RPL32_16_1167 pseudo HGNC:35721 INFERRED 2304651 RPL32P24 ribosomal protein L32 pseudogene 24 11 11 11 q13 80233712 80234111 + 82924047 82924446 + 83213005 83213404 + 19123937 100271489 ABBA01017362;AP000873;NG_010668 RPL32_15_1162 pseudo HGNC:36722 INFERRED 2304649 RPL32P26 ribosomal protein L32 pseudogene 26 12 12 12 q14.1 62721094 62721496 + 63052603 63053005 + 62658823 62659225 + 19123937 100271491 ABBA01026629;AC048341;AMYH02026637;NG_010679 RPL32_17_1245 pseudo HGNC:36027 INFERRED 2304837 RPL32P27 ribosomal protein L32 pseudogene 27 12 12 12 q13 48091572 48091970 - 49297198 49297596 - 48903415 48903813 - 19123937 100271306 ABBA01031493;AC073610;AMYH02026427;NG_011044;NG_033837 RPL32_7_1234 pseudo HGNC:36924 INFERRED 2305772 RPL32P28 ribosomal protein L32 pseudogene 28 13 13 13 q21.31 43862607 43863119 + 62902017 62902529 + 62327884 62328396 + 19123937 100133193 ABBA01050245;AL160151;NG_010395 RPL32_18_1316 pseudo HGNC:36328 INFERRED 2304492 RPL32P29 ribosomal protein L32 pseudogene 29 14 14 14 q21.3 29903900 29904387 - 50044073 50044560 - 49577355 49577842 - 19123937 729215 ABBA01018109;AL139099;AMYH02029146;NG_010659 RPL32_8_1362 pseudo HGNC:35771 INFERRED 1604531 RPL32P3 ribosomal protein L32 pseudogene 3 INTERACTS WITH crotonaldehyde; methyl methanesulfonate; quercetin 3 3 3 q21.3 127528019 127545122 - 129101677 129118282 - 129382834 129399439 - 6480464 12477932;14702039;16344560 132241 ABBA01059231;ABBA01059232;AI872203;AK093477;AK096589;AL449212;AMYH02007639;BC014110;BC015389;BC042157;BC053996;BX641154;CH471052;CS300717;DA215278;DA215350;NR_003111 CAK32381;EAW79258;EAW79260 Hs.477537;Hs.652423 1738893;1846592;2130636;2185311;2191469;5014604;5016679 D3S2988;D3S3173;D3S4252;MARC_23652-23653:1029502677:1;RH70808;RH77984;SHGC-77332 pseudo ENSG00000251474 HGNC:27024 VALIDATED 2304648 RPL32P30 ribosomal protein L32 pseudogene 30 15 15 15 q21.2 27983794 27984081 + 51090867 51091154 + 50798670 50798957 + 19123937 100271492 ABBA01039101;AC012100;AMYH02030420;NG_010686 RPL32_19_1431 pseudo HGNC:36729 INFERRED 2304515 RPL32P31 ribosomal protein L32 pseudogene 31 17 17 17 q25.3 75144678 75147604 + 78516003 78518934 + 80542203 80545134 + 19123937 201259 ABBA01032115;AC109327;AMYH02034109;NG_010233;NG_013034 1783560;1785064 SHGC-154589;SHGC-154741 RPL32_21_1577 pseudo HGNC:37035 INFERRED 2304652 RPL32P32 ribosomal protein L32 pseudogene 32 17 17 17 q23.2 57423162 57423505 - 58322665 58323008 - 60245304 60245647 - 19123937 100271488 ABBA01035414;AC104763;AMYH02033721;NG_010664 RPL32_10_1563 pseudo HGNC:36024 INFERRED 2304647 RPL32P33 ribosomal protein L32 pseudogene 33 17 17 17 q24.3 67194694 67195087 + 70623370 70623763 + 72627231 72627624 + 19123937 100271493 ABBA01028886;AC080037;AMYH02033944;NG_010691 RPL32_20_1573 pseudo HGNC:36231 INFERRED 2305481 RPL32P36 ribosomal protein L32 pseudogene 36 X X X p11.4 44896257 44907433 + 40756469 40767643 + 40897216 40908390 + 11181995;19123937 392447 ABBA01046760;ABBA01046761;AC092268;AMYH02039195;CH471141;NG_011329 EAW59413;EAW59414 RPL32_24_1772 pseudo HGNC:36613 INFERRED 1344513 RPL32P4 ribosomal protein L32 pseudogene 4 8 8 8 q21.3 83249640 83250131 + 87055281 87055772 + 86043052 86043543 + 19123937 100131339 ABBA01037355;AC023194;AMYH02018356;NG_009522 RPL32L;RPL32_11_924 pseudo HGNC:10337 INFERRED 2304760 RPL32P35 ribosomal protein L32 pseudogene 35 X X X q25 128361158 128361558 - 127972419 127972819 - 128838441 128838841 - 19123937 100271393 ABBA01047727;AMYH02040457;NG_010177;Z72001 RPL32_11_1810 pseudo HGNC:36547 INFERRED 2305816 RPL32P7 ribosomal protein L32 pseudogene 7 3 3 3 q12.3 99710359 99710764 - 101318083 101318488 - 101599239 101599644 - 19123937 391560 ABBA01061773;AC084198;AMYH02007317;NG_010710 RPL32_1_390 pseudo HGNC:35804 INFERRED 2305392 RPL32P6 ribosomal protein L32 pseudogene 6 1 1 1 p36.1 25707176 25707601 + 27310090 27310515 + 26983599 26984024 + 19123937 100270888 ABBA01034943;AL356390;AMYH02000583;NG_010215 RPL32_1_26 pseudo HGNC:36655 INFERRED 2305243 RPL32P8 ribosomal protein L32 pseudogene 8 3 3 3 q25 147562712 147563109 - 149150830 149151227 - 149433043 149433440 - 19123937 100270991 ABBA01058945;AC108751;AMYH02007884;NG_010745 RPL32_2_419 pseudo HGNC:36414 INFERRED 2305242 RPL32P9 ribosomal protein L32 pseudogene 9 3 3 3 q25.1 148281657 148282066 + 149868325 149868734 + 150150538 150150947 + 19123937 100270992 ABBA01058931;AC117386;AMYH02007887;NG_010752 RPL32_3_420 pseudo HGNC:35481 INFERRED 2305774 RPL32P34 ribosomal protein L32 pseudogene 34 19 19 19 p13.3 5215258 5215661 + 5277745 5278148 + 5277734 5278137 + 19123937 100133162 ABBA01056020;AC005790;AMYH02035323;NG_010230;NG_033964 RPL32_22_1617 pseudo HGNC:35903 INFERRED 2305618 RPL32P19 ribosomal protein L32 pseudogene 19 8 8 8 p22 14764588 14765052 + 15800577 15801041 + 15943068 15943532 + 11181995;19123937 646433 ABBA01021596;AC018437;AMYH02017508;CH471080;NG_006954 EAW63835 1778224 G32143 RPL32_10_878 pseudo HGNC:36743 INFERRED 1349591 RPL34P1 ribosomal protein L34 pseudogene 1 1 1 1 q23-q24 141288835 141289246 + 168179810 168180221 + 168210572 168210983 + 19123937 26514 ABBA01047232;AL021397;AMYH02002102;NG_000895 RPL34_3_118;dJ69E11.2 pseudo ENSG00000237049 HGNC:10341 INFERRED 2305209 RPL34P10 ribosomal protein L34 pseudogene 10 3 3 3 q27.2 183762102 183762401 + 185324363 185324662 + 185606575 185606874 + 19123937 100271004 ABBA01058414;AC133473;AMYH02008332;NG_010819 RPL34_8_445 pseudo HGNC:36962 INFERRED 2303831 RPL34-AS1 RPL34 antisense RNA 1 (head to head) 4 4 4 q25 106754205 106836604 - 109459346 109541613 - 108538190 108620457 - 12477932;14702039;24908062 285456 Q8N9D8 ABBA01063761;ABBA01063762;ABBA01063763;ABBA01063764;ABBA01063765;AC084209;AK094992;AK298931;AMYH02009883;AMYH02009884;BC118631;HG497152;NR_026968 BAC04469;BAG61034 Hs.683863 1763063;1767866;1769062;1777866;1854548;1856589;2156082;2181280;2183577 SHGC-146801;SHGC-18787;SHGC-18814;SHGC-23133;SHGC-2737;SHGC-50690;SHGC-59280;SHGC-60121;SHGC-9318 FLJ37673;RP11-462C24.1 APPROVED ncrna ENSG00000234492 HGNC:26749 08228 VALIDATED 1319729 RPL34 ribosomal protein L34 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L34E family of ribosomal proteins. It is located in the cytoplasm. This gene originally was thought to be located at 17q21, but it has been mapped to 4q. Transcript variants derived from alternative splicing, alternative transcription initiation sites, and/or alternative polyadenylation exist; these variants encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 4 4 4 q25 106836713 106846631 + 109541722 109551640 + 108620566 108630484 + 1580863;6480464 10049762;11875025;12477932;12962325;14567916;14702039;15189156;15489334;15635413;17353931;17361185;18457437;20195357;20332099;20877624;21139048;21145461;21319273;21832049;21890473;21906983;21907836;21963094;21988832;22505724;23000965;23246001;23398456;24457600;24657165;24816145;7490091;7821789;8722009;8889548;9582194 6164 P49207;Q5MK14 AB007181;AB061832;ABBA01063765;AC084209;AC107071;AF147334;AK055920;AMYH02009884;AX887953;AX887954;AY762981;BC001773;BC070208;BC106009;BM971961;BU588998;CH471057;CR542232;CR542242;CS185554;D28420;L38941;NM_000995;NM_033625;XM_005263172;XM_006714287 AAC41916;AAH01773;AAH70208;AAI06010;AAV88043;ABM83428;ABM86641;BAA05786;BAA25840;BAB79470;CAE93878;CAE93879;CAG47028;CAG47038;CAJ42735;EAX06229;EAX06230;EAX06231;EAX06232;NP_000986;NP_296374;P49207;XP_005263229;XP_006714350 Hs.438227 1668652;1856589;5037552 D8S2279;SHGC-59280;SHGC-67267 L34;MGC111005 60S ribosomal protein L34;OTTHUMP00000162661;OTTHUMP00000162662;OTTHUMP00000219601;OTTHUMP00000219602;OTTHUMP00000219603;leukemia-associated protein APPROVED protein-coding ENSG00000109475 HGNC:10340 17996 REVIEWED 2304382 RPL34P11 ribosomal protein L34 pseudogene 11 3 3 3 p24.1 28425896 28426248 + 28489216 28489568 + 28447725 28448077 + 19123937 100130286 ABBA01024976;AC093142;AMYH02006459;NG_011235 RPL34_6_354 pseudo HGNC:36412 INFERRED 2305238 RPL34P12 ribosomal protein L34 pseudogene 12 4 4 4 q26 121119780 121120115 - 123736937 123737272 - 122815782 122816117 - 19123937 100270996 ABBA01044742;AC021205;AMYH02010021;NG_010777 RPL34_2_514 pseudo HGNC:35845 INFERRED 2305237 RPL34P13 ribosomal protein L34 pseudogene 13 5 5 5 q23 130268162 130268517 - 134140467 134140822 - 134804777 134805132 - 19123937 100270997 ABBA01068741;AC010301;AMYH02012253;NG_010783 RPL34_3_616 pseudo HGNC:36398 INFERRED 2305743 RPL34P16 ribosomal protein L34 pseudogene 16 6 6 6 p25.1 7015674 7016096 - 5788543 5788965 - 5788310 5788732 - 19123937 100133294 ABBA01022010;AL136968;AMYH02013039;NG_009837 RPL34_4_651 pseudo HGNC:37033 INFERRED 2304618 RPL34P14 ribosomal protein L34 pseudogene 14 6 6 6 p21.1 44847327 44847951 + 43295590 43296214 + 43327852 43328476 + 19123937 100129934 ABBA01050687;AL583834;AMYH02013644;NG_010743 RPL34_9_693 pseudo HGNC:35927 INFERRED 2305210 RPL34P18 ribosomal protein L34 pseudogene 18 8 8 8 q22.1 91155626 91155979 - 94969566 94969919 - 93957338 93957691 - 19123937 100271003 ABBA01037444;AC105081;AMYH02018421;NG_010815 RPL34_7_926 pseudo HGNC:35968 INFERRED 2305213 RPL34P15 ribosomal protein L34 pseudogene 15 6 6 6 q26 164108159 164108458 - 163378281 163378580 - 162957249 162957548 - 19123937 100271000 ABBA01015119;AL590286;AMYH02014924;NG_010799 RPL34_5_775 pseudo HGNC:35965 INFERRED 2305212 RPL34P17 ribosomal protein L34 pseudogene 17 8 8 8 q11.23 49216049 49216390 - 53225713 53226054 - 52313153 52313494 - 19123937 100271001 ABBA01041698;AC103831;AMYH02017974;NG_010806 RPL34_6_902 pseudo HGNC:36636 INFERRED 2304646 RPL34P19 ribosomal protein L34 pseudogene 19 10 10 10 p11.22 32038091 32038391 + 32273183 32273483 + 31984255 31984555 + 19123937 100271494 ABBA01033394;AL161932;AMYH02022576;NG_010697 RPL34_10_1028 pseudo HGNC:36925 INFERRED 1352830 RPL34P2 ribosomal protein L34 pseudogene 2 11 11 11 p13 32926610 32926962 - 32779813 32780165 - 32758267 32758619 - 19123937 26513 ABBA01060907;AC244259;AL049714;NG_000894 RPL34_11_1133 pseudo HGNC:10342 INFERRED 2304836 RPL34P20 ribosomal protein L34 pseudogene 20 10 10 10 q24 92891114 92891462 - 99152955 99153303 - 97393198 97393546 - 19123937 100271308 ABBA01021805;AL355490;AMYH02023606;NG_011055 RPL34_8_1088 pseudo HGNC:35535 INFERRED 2304644 RPL34P22 ribosomal protein L34 pseudogene 22 11 11 11 p11.2 44798046 44798363 + 44650907 44651224 + 44629357 44629674 + 19123937 100271498 ABBA01060770;AC104010;AMYH02024686;NG_010718 RPL34_12_1141 pseudo HGNC:36454 INFERRED 2304645 RPL34P21 ribosomal protein L34 pseudogene 21 11 11 11 q24 127120655 127120941 - 129952390 129952676 - 130082495 130082781 - 19123937 100271495 ABBA01023029;AMYH02025784;AP003041;NG_010705;NG_029770 RPL34_10_1189 pseudo HGNC:35677 INFERRED 2304835 RPL34P24 ribosomal protein L34 pseudogene 24 11 11 11 p15.5-p14 17288873 17289162 - 17159523 17159812 - 17137976 17138265 - 19123937 100271309 ABBA01061068;AC126389;AMYH02024378;NG_011059 RPL34_9_1123 pseudo HGNC:36823 INFERRED 2304643 RPL34P23 ribosomal protein L34 pseudogene 23 11 11 11 q24.1 120065921 120066266 + 122906577 122906922 + 123035869 123036214 + 19123937 100271499 ABBA01031277;AMYH02025709;AP000926;NG_010725 RPL34_13_1184 pseudo HGNC:35820 INFERRED 1345579 RPL32P5 ribosomal protein L32 pseudogene 5 22 22 22 q11.1 1295032 1295542 + 17673738 17674248 + 17192848 17193358 + 10591208;19123937 23754 ABBA01001456;AC005300;AMYH02037991;NG_002456;NG_033943 RPL32L2;RPL32_23_1737 pseudo HGNC:10338 INFERRED 2305783 RPL34P26 ribosomal protein L34 pseudogene 26 13 13 13 q14.3 31990153 31990506 - 50935546 50935899 - 50361410 50361763 - 19123937 100130718 ABBA01051038;AL138696;AMYH02028025;NG_010834 RPL34_12_1312 pseudo HGNC:36100 INFERRED 2305613 RPL34P27 ribosomal protein L34 pseudogene 27 13 13 13 q12.12 6626236 6626659 - 25562671 25563094 - 24988533 24988956 - 19123937 651249 ABBA01007897;AL354798;AMYH02027714;NG_011246 RPL34_11_1303 pseudo HGNC:36369 INFERRED 1343494 RPL34P3 ribosomal protein L34 pseudogene 3 21 21 21 q22.12 22043754 22044133 - 36844374 36844753 - 35472076 35472455 - 10830953 54026 ABBA01057371;AF051934;AMYH02037763;NG_000907;NG_011402 2117823 SHGC-9575 pseudo HGNC:10343 INFERRED 2304357 RPL34P31 ribosomal protein L34 pseudogene 31 17 17 17 q11.1 22462565 22462981 + 25601133 25601548 + 27274107 27274522 + 19123937 729536 ABBA01015073;AC026254;AMYH02033207;NG_010995 RPL34_16_1528 pseudo HGNC:36899 INFERRED 2305755 RPL34P33 ribosomal protein L34 pseudogene 33 19 19 19 p12 22715576 22715915 + 22882154 22882493 + 22699352 22699691 + 19123937 730061 ABBA01051415;AC024563;AMYH02035829;NG_011383 RPL34_18_1640 pseudo HGNC:36666 INFERRED 2304421 RPL34P34 ribosomal protein L34 pseudogene 34 19 19 19 p12 22383915 22384425 - 22551386 22551896 - 22368584 22369094 - 19123937 342994 ABBA01051405;AC011494;AMYH02035821;CH471106;NG_011088 EAW84920 RPL34_15_1639 pseudo HGNC:35848 INFERRED 2304602 RPL34P28 ribosomal protein L34 pseudogene 28 14 14 14 q22 35798499 35798846 - 55749014 55749361 - 55282296 55282643 - 19123937 100271500 ABBA01018205;AL158801;AMYH02029234;NG_010730 RPL34_13_1367 pseudo HGNC:36781 INFERRED 2304599 RPL34P29 ribosomal protein L34 pseudogene 29 16 16 16 q12.1 34482026 34482347 + 49968937 49969258 + 49935026 49935347 + 19123937 100271503 ABBA01000885;AC007603;AMYH02032005;NG_010747 RPL34_15_1483 pseudo HGNC:35631 INFERRED 2304600 RPL34P32 ribosomal protein L34 pseudogene 32 18 18 18 q11.2 16240655 16240997 - 19434606 19434948 - 21854645 21854987 - 19123937 100271502 ABBA01022670;AC103987;AMYH02034385;NG_010742;NG_033272 RPL34_14_1586 pseudo HGNC:36902 INFERRED 2304601 RPL34P25 ribosomal protein L34 pseudogene 25 12 12 12 p12 24815930 24816271 + 19661838 19662179 + 19508904 19509245 + 19123937 100271501 ABBA01067945;AC091805;AMYH02026138;NG_010736 RPL34_14_1217 pseudo HGNC:35895 INFERRED 2305239 RPL34P5 ribosomal protein L34 pseudogene 5 1 1 1 q21 127039852 127040183 + 153968108 153968439 + 153995632 153995963 + 19123937 100270995 ABBA01049462;AL358472;AMYH02001913;NG_010769 RPL34_2_101 pseudo HGNC:36527 INFERRED 2305391 RPL34P4 ribosomal protein L34 pseudogene 4 1 1 1 p36 25049493 25049845 + 26653178 26653530 + 26326687 26327039 + 19123937 100270889 ABBA01034905;AL451139;AMYH02000562;NG_010221 RPL34_1_24 pseudo HGNC:36665 INFERRED 2305236 RPL34P6 ribosomal protein L34 pseudogene 6 1 1 1 q32.1 173957007 173957342 + 200832936 200833271 + 200863808 200864143 + 19123937 100270998 ABBA01027542;AC099756;AMYH02002474;NG_010790 RPL34_4_146 pseudo ENSG00000231333 HGNC:35810 INFERRED 2304352 RPL34P7 ribosomal protein L34 pseudogene 7 1 1 1 q42.12 199567236 199567589 - 226376569 226376922 - 226188868 226189221 - 19123937 100127995 ABBA01009645;AL592045;AMYH02002808;NG_011301;NG_028985 RPL34_1_168 pseudo HGNC:35575 INFERRED 2305235 RPL34P8 ribosomal protein L34 pseudogene 8 2 2 2 q12.1 87230213 87230530 - 112432603 112432920 + 111675026 111675343 + 19123937 100270999 ABBA01040261;AC093166;AMYH02004577;NG_010794 RPL34_5_265 pseudo HGNC:36963 INFERRED 2305211 RPL34P9 ribosomal protein L34 pseudogene 9 3 3 3 q13.33 118641130 118641465 + 120231701 120232036 + 120512854 120513189 + 19123937 100271002 ABBA01061564;AC126182;AMYH02007513;NG_010812 RPL34_7_396 pseudo HGNC:36771 INFERRED 2304831 RPL35AP10 ribosomal protein L35a pseudogene 10 3 3 3 q26.1 158481842 158482170 + 160060475 160060803 + 160342687 160343015 + 19123937 100271313 ABBA01058796;AC079594;AMYH02008017;NG_011082;NG_022932 RPL35A_3_429 pseudo HGNC:35905 INFERRED 1349107 RPL35AP ribosomal protein L35a pseudogene 20 20 20 q12-q13.1 42820622 42821418 - 46106958 46107754 - 47478214 47479010 - 19123937 140716 ABBA01052703;AL353777;AMYH02037169;NG_000987 RPL35A_15_1710;bA456N23.1 pseudo HGNC:16546 INFERRED 2304830 RPL35AP11 ribosomal protein L35a pseudogene 11 4 4 4 q22 92588173 92588604 + 95290922 95291351 + 94369771 94370200 + 19123937 100271314 ABBA01063620;AC109925;AMYH02009758;NG_011086 RPL35A_4_500 pseudo HGNC:35708 INFERRED 1353068 RPL35 ribosomal protein L35 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 9 9 9 q34.1 98268108 98272188 - 127620158 127624240 - 124857879 124861961 - 1580863;6480464;8554872 11401437;12477932;12962325;14567916;15164053;15189156;15489334;15635413;16196087;16341674;17353931;17361185;17620599;18029348;18523488;19167051;19738201;19946888;20020773;20195357;20562859;20972266;21139048;21145461;21319273;21890473;21900206;21906983;21907836;21963094;21987572;21988832;22505724;22623428;22863883;22939629;22944692;23000965;23398456;23443559;23455922;23463506;24140708;24390425;24816145;25015289;2891103;7821789;8076819;8722009 11224 F2Z388;P42766 AB046409;ABBA01043757;AK291072;AL354928;AMYH02021636;BC000348;BC010919;BC071915;BC094828;BM854016;CH471090;CR456877;CR996819;D17026;D17195;D28448;FB342981;FB711104;NM_007209;U12465 AAA51648;AAH00348;AAH10919;AAH71915;AAH94828;ABM82289;ABM85469;BAA05814;BAB21255;BAF83761;CAG33158;CAR81491;CAS91507;EAW87600;EAW87601;EAW87602;NP_009140;P42766 Hs.182825 1718023;1718717;5016893;5024320 RH122628;RH123045;RH66784;stSG609458 L35 60S ribosomal protein L35;OTTHUMP00000022107;OTTHUMP00000022108 APPROVED protein-coding ENSG00000136942 HGNC:10344 10200 REVIEWED 2304828 RPL35AP12 ribosomal protein L35a pseudogene 12 4 4 4 q32.2 161635597 161635934 + 164303331 164303668 + 163382179 163382516 + 19123937 100271316 ABBA01070271;AC115113;AMYH02010416;NG_011094 RPL35A_5_531 pseudo HGNC:36068 INFERRED 733438 RPL35A ribosomal protein L35a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Transcript variants utilizing alternative transcription initiation sites and alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 3 3 3 q29 196293205 196298875 + 197677023 197682722 + 197950135 197955851 + 1580863;6480464;7240710;8554872;8699517 10880769;11875025;12175552;12477932;12704204;12777385;12962325;14567916;14702039;15189156;15489334;15635413;1577483;16169070;17353931;17620599;18274552;18535205;18697920;19773262;19946888;20301769;20378560;20877624;21139048;21145461;21853274;21890473;21900206;21906983;21907836;21963094;22045982;22145905;22174317;22262766;22505724;23000965;23166591;23398456;23463506;2388839;24337577;24816145;7821789;8722009;8786106;9582194 6165 C9K025;F8WB72;F8WBS5;P18077 AB007182;AB055768;ABBA01007559;AC135893;AK026542;AK055653;AMYH02008527;AY871273;BC001037;BC010949;BC017093;BC061890;CH471252;NG_011743;NG_033072;NM_000996;X52966;X94619;XM_005269350;XM_005269351 AAH01037;AAH10949;AAH17093;AAH61890;AAX11429;BAA25841;BAB62862;CAA37138;CAA64325;EAW92248;EAW92249;EAW92250;NP_000987;P18077;XP_005269407;XP_005269408 Hs.529631 1651840;1739809 D3S3481E;D3S3954 DBA5;L35A 60S ribosomal protein L35a;OTTHUMP00000207884;OTTHUMP00000207885;OTTHUMP00000207886;cell growth-inhibiting gene 33 protein APPROVED protein-coding ENSG00000182899 HGNC:10345 01596 180468;612528 REVIEWED 2305095 RPL35AP13 ribosomal protein L35a pseudogene 13 5 5 5 q13.2 68070049 68070442 - 72174651 72175044 - 72878824 72879217 - 19123937 100131945 ABBA01061908;AC008953;AMYH02011557;NG_010547 RPL35A_5_575 pseudo HGNC:35916 INFERRED 2304829 RPL35AP14 ribosomal protein L35a pseudogene 14 5 5 5 q12.1 58868736 58869032 - 61871802 61872098 - 62575975 62576271 - 19123937 100271315 ABBA01048360;AC114982;AMYH02011391;NG_011091 RPL35A_4_569 pseudo HGNC:36783 INFERRED 2304826 RPL35AP16 ribosomal protein L35a pseudogene 16 5 5 5 q32 141597641 141597888 + 145517697 145517944 + 146138134 146138381 + 19123937 100271318 ABBA01026345;AC091959;AMYH02012404;NG_011105 RPL35A_6_624 pseudo HGNC:35485 INFERRED 2304827 RPL35AP15 ribosomal protein L35a pseudogene 15 5 5 5 q23.1 112586080 112586415 - 116636803 116637138 - 117301107 117301442 - 19123937 100271317 ABBA01069009;AC093295;AMYH02012027;NG_011098 RPL35A_6_605 pseudo HGNC:36974 INFERRED 1606049 RPL35AP2 ribosomal protein L35a pseudogene 2 9 9 9 p 34123368 34123741 + 34191517 34191890 + 34191519 34191892 + 19123937 652983 ABBA01065017;AL353662;AMYH02019441;NG_005490 RPL35A_10_973;bA571F15.2 pseudo HGNC:19914 INFERRED 2305832 RPL35AP20 ribosomal protein L35a pseudogene 20 9 9 9 p24.1 6612558 6613006 + 6675215 6675662 + 6675215 6675662 + 19123937 100128277 ABBA01065389;AL354707;AMYH02019097;NG_010099 RPL35A_9_959 pseudo HGNC:36053 INFERRED 2304596 RPL35AP21 ribosomal protein L35a pseudogene 21 9 9 9 q21.13 44776731 44777168 + 74204456 74204893 + 71589540 71589977 + 19123937 100271506 ABBA01033836;AL392106;AMYH02020966;NG_010765 RPL35A_11_983 pseudo HGNC:36814 INFERRED 2304597 RPL34P30 ribosomal protein L34 pseudogene 30 17 17 17 q21 37521777 37522117 + 40866317 40866657 + 42714299 42714639 + 19123937 100271505 ABBA01006414;AC100793;AMYH02033435;NG_010760 RPL34_17_1547 pseudo HGNC:36477 INFERRED 2304595 RPL35AP22 ribosomal protein L35a pseudogene 22 9 9 9 q33.1 91095260 91095587 - 120447536 120447863 - 117685258 117685585 - 19123937 100271507 ABBA01016273;AL161630;AMYH02021544;NG_010771 1724573 RH121283 RPL35A_9_1011 pseudo HGNC:35932 INFERRED 2304598 RPL34P35 ribosomal protein L34 pseudogene 35 22 22 22 q11.21 3078082 3078378 - 19225966 19226262 - 19238443 19238739 - 19123937 100271504 ABBA01005421;AC000081;AMYH02038037;NG_010754;NG_033805 RPL34_16_1738 pseudo HGNC:35798 INFERRED 2304449 RPL35AP23 ribosomal protein L35a pseudogene 23 10 q11.2 51654908 51655375 - 19123937 100271629 AL450342;AMYH02023042;NG_010037 RPL35A_10_1045 pseudo HGNC:36045 INFERRED 2304825 RPL35AP17 ribosomal protein L35a pseudogene 17 5 5 5 q32 141598268 141598515 + 145518324 145518571 + 146138761 146139008 + 19123937 100271319 ABBA01026345;AC091959;AMYH02012404;NG_011112 RPL35A_7_625 pseudo HGNC:36384 INFERRED 2304823 RPL35AP19 ribosomal protein L35a pseudogene 19 8 8 8 q24.12 118580324 118580770 - 122392333 122392779 - 121380093 121380539 - 19123937 100271322 ABBA01037846;AC013545;AMYH02018690;NG_011123 RPL35A_8_947 pseudo HGNC:36631 INFERRED 2304824 RPL35AP18 ribosomal protein L35a pseudogene 18 6 6 6 q14 81091913 81092220 + 80673932 80674239 + 79964215 79964522 + 19123937 100271321 ABBA01040419;AL133475;AMYH02013979;NG_011120 RPL35A_8_717 pseudo HGNC:36812 INFERRED 2304447 RPL35AP24 ribosomal protein L35a pseudogene 24 10 10 10 q11.23 9257 9699 + 51117591 51118033 + 49909545 49909987 + 19123937 100271631 AL731572;AMYH02022991;NG_010055 RPL35A_12_1042 pseudo HGNC:35544 INFERRED 2304448 RPL35AP26 ribosomal protein L35a pseudogene 26 11 11 11 q24.2 123313290 123313706 - 126148097 126148513 - 126278202 126278618 - 19123937 100271630 ABBA01031225;AMYH02025746;AP001318;NG_010048;NG_028029 1677708;2117948 RH79036;RH80716 RPL35A_11_1187 pseudo HGNC:36465 INFERRED 2304445 RPL35AP25 ribosomal protein L35a pseudogene 25 10 10 q11.23 51339370 51339837 + 45940454 45940921 + 19123937 100271633 AC254107;AL450342;AL672187;NG_010067 RPL35AP23;RPL35A_10_1045;RPL35A_13_1043 pseudo HGNC:36294 INFERRED 2304443 RPL35AP27 ribosomal protein L35a pseudogene 27 12 12 12 p11 12836344 12836784 + 33015965 33016405 + 32863031 32863471 + 19123937 100271635 ABBA01031702;AC087588;AMYH02026309;NG_010083 RPL35A_14_1227 pseudo HGNC:35979 INFERRED 2304441 RPL35AP28 ribosomal protein L35a pseudogene 28 12 12 12 q13 49052943 49053378 + 50256889 50257324 + 49863106 49863541 + 19123937 100271637 ABBA01031540;AC131157;AMYH02026450;NG_010097 RPL35A_15_1235 pseudo HGNC:36480 INFERRED 2304440 RPL35AP29 ribosomal protein L35a pseudogene 29 12 12 12 q13 50301833 50302155 + 51500605 51500927 + 51106822 51107144 + 19123937 100271638 ABBA01031599;AC087884;AMYH02026479;NG_010103;NG_029908 RPL35A_16_1237 pseudo HGNC:35569 INFERRED 2304439 RPL35AP30 ribosomal protein L35a pseudogene 30 12 12 12 q24.23 120030344 120030677 + 120397228 120397561 + 119959424 119959757 + 19123937 100271639 ABBA01020089;AC004815;AMYH02027357;NG_010110 RPL35A_17_1286 pseudo HGNC:36751 INFERRED 1343108 RPL35AP3 ribosomal protein L35a pseudogene 3 6 6 6 q23.3 138035531 138035860 - 137295067 137295396 - 136973930 136974259 - 19123937 387074 ABBA01025822;AL365223;AMYH02014564;NG_009761 RPL35A_7_760;bA55K22.4 pseudo HGNC:21117 INFERRED 2304446 RPL35AP32 ribosomal protein L35a pseudogene 32 15 15 15 q22 43628470 43628859 - 66738791 66739178 - 66446453 66446840 - 19123937 100271632 ABBA01038820;AC011276;AMYH02030647;NG_010061 RPL35A_12_1446 pseudo HGNC:36269 INFERRED 2304438 RPL35AP31 ribosomal protein L35a pseudogene 31 13 13 13 q22 53322033 53322465 + 72420052 72420484 + 71845920 71846352 + 19123937 100271640 ABBA01050327;AL139186;AMYH02028239;NG_010117;NG_011849 RPL35A_18_1321 pseudo HGNC:36284 INFERRED 2304444 RPL35AP33 ribosomal protein L35a pseudogene 33 16 16 16 q22.1 53019638 53020105 - 68511095 68511562 - 68477192 68477659 - 19123937 100271634 ABBA01025486;AC099521;AMYH02032250;NG_010077 RPL35A_13_1491 pseudo HGNC:36950 INFERRED 2304442 RPL35AP35 ribosomal protein L35a pseudogene 35 17 17 17 q11.2 24527915 24528347 - 27667456 27667888 - 29340438 29340870 - 19123937 100271636 ABBA01015026;AC005412;AMYH02033243;NG_010088 2121213 D17S2093 RPL35A_14_1534 pseudo HGNC:36677 INFERRED 2305607 RPL35AP37 ribosomal protein L35a pseudogene 37 X X X p22.2 19250468 19250799 - 15135559 15135890 - 15117437 15117768 - 19123937 100128807 ABBA01071266;AC112498;AMYH02038911;NG_010212 RPL35A_16_1766 pseudo HGNC:36426 INFERRED 2303692 RPL35AP4 ribosomal protein L35a pseudogene 4 6 6 6 p21 34911523 34911646 - 33357133 33357256 - 33389356 33389479 - 100048922 ABBA01038147;AL662799;AMYH02013485;BX088650;BX248088;CR759793;NG_009762 BPG294E21.7 pseudo HGNC:33460 INFERRED 2305784 RPL35AP36 ribosomal protein L35a pseudogene 36 22 22 22 q13.31 28264445 28264871 + 44352846 44353272 + 43956966 43957392 + 19123937 100128393 ABBA01014588;AL035398;AMYH02038482;NG_010715;NG_029057 RPL35A_20_1756 pseudo HGNC:36103 INFERRED 2304437 RPL35AP34 ribosomal protein L35a pseudogene 34 16 16 16 p13.12 13149873 13150277 + 12974993 12975397 + 12881136 12881540 + 19123937 100271641 ABBA01006858;AC092324;AMYH02031511;NG_010123 RPL35A_19_1474 pseudo HGNC:36324 INFERRED 2304846 RPL35AP5 ribosomal protein L35a pseudogene 5 1 1 1 q32.1 176939315 176939758 - 203804668 203805111 - 203835540 203835983 - 19123937 100132122 ABBA01027467;AC114402;AMYH02002519;NG_010132 RPL35A_2_150 pseudo HGNC:35570 INFERRED 2304832 RPL35AP6 ribosomal protein L35a pseudogene 6 1 1 1 q44 220211190 220211511 - 246918813 246919134 - 246755511 246755832 - 19123937 100271312 ABBA01031768;AL591848;AMYH02003119;NG_011079 RPL35A_3_191 pseudo HGNC:36793 INFERRED 2305566 RPL35AP7 ribosomal protein L35a pseudogene 7 1 1 1 q23.3 137995714 137996130 - 164890513 164890929 - 164921276 164921692 - 19123937 100128984 ABBA01047285;AL390119;AMYH02002063;NG_011118 RPL35A_1_109 pseudo HGNC:36212 INFERRED 2304834 RPL35AP8 ribosomal protein L35a pseudogene 8 3 3 3 p21 42451535 42451777 + 42511132 42511374 + 42469640 42469882 + 19123937 100271310 ABBA01024769;AC092047;AMYH02006627;NG_011066 RPL35A_1_367 pseudo HGNC:36976 INFERRED 2304833 RPL35AP9 ribosomal protein L35a pseudogene 9 3 3 3 q25.32 156903911 156904350 + 158481155 158481594 + 158763366 158763805 + 19123937 100271311 ABBA01058812;AC080013;AMYH02008001;NG_011072 RPL35A_2_427 pseudo HGNC:35643 INFERRED 2305117 RPL35P1 ribosomal protein L35 pseudogene 1 1 1 1 q43 210393925 210394359 + 237144609 237145043 + 236981309 236981743 + 19123937 440737 ABBA01033177;AL359259;AMYH02002975;NG_010846 RPL35_1_181 pseudo HGNC:36695 INFERRED 2305508 RPL35P2 ribosomal protein L35 pseudogene 2 6 6 6 p21.31 35785412 35785865 - 34231047 34231500 - 34263270 34263723 - 19123937 646766 ABBA01038182;AL354740;AMYH02013512;NG_009694 1662048;1666916;1721473;1740023;1852651;2162020;2164019 D17S1779;D6S1112E;D6S1200E.1;G59590;RH44830;STS-H99646;WI-15639 RPL35_1_683 pseudo HGNC:35789 INFERRED 2305208 RPL35P4 ribosomal protein L35 pseudogene 4 7 7 7 p15.2 27297891 27298329 - 27308934 27309372 - 27269315 27269753 - 19123937 100271006 ABBA01056765;AC004996;AMYH02015409;CH236948;NG_010829 1830744;2059770;2059772;2059774;2059776;2059778;2059780;2059782;2059784;2059786;2059788;2059790 ECD16508;REN101060;REN101061;REN101062;REN101063;REN101064;REN101065;REN101066;REN101067;REN101068;REN101069;REN101070 RPL35_3_799 pseudo HGNC:36285 INFERRED 2304504 RPL35P5 ribosomal protein L35 pseudogene 5 7 7 7 q11.21 66043965 66044419 + 66071690 66072144 - 66606703 66607157 - 11181995;12690205;17353931;19123937 441246 ABBA01048983;AC006001;AMYH02015912;CH236961;CH471140;NG_009598 EAL23736;EAX07921 RPL35_4_812 pseudo HGNC:36955 INFERRED 2305609 RPL35P3 ribosomal protein L35 pseudogene 3 6 6 6 q21 106372429 106372868 - 105750295 105750734 - 105302420 105302859 - 19123937 728010 ABBA01014392;AL133406;AMYH02014228;NG_011046;NG_011472 RPL35_2_728 pseudo HGNC:35488 INFERRED 2305207 RPL35P6 ribosomal protein L35 pseudogene 6 8 8 8 p22 17596611 17597030 - 18632057 18632476 - 18774547 18774966 - 19123937 100271007 ABBA01021570;AC090420;AMYH02017550;NG_010835 RPL35_5_881 pseudo HGNC:35520 INFERRED 2305633 RPL35P7 ribosomal protein L35 pseudogene 7 13 13 13 q33.3 87929982 87938559 + 107085687 107094264 + 106433339 106441916 + 19123937 341604 ABBA01027049;AL136159;AL138689;AMYH02028664;NG_010519 RPL35_2_1335 pseudo HGNC:35740 INFERRED 2305760 RPL35P8 ribosomal protein L35 pseudogene 8 22 22 22 q13.33 33529700 33530153 - 49609748 49610201 - 49213822 49214275 - 19123937 643653 ABBA01031348;AMYH02038575;NG_010367;Z82202 RPL35_6_1759 pseudo HGNC:36158 INFERRED 6481562 RPL35P9 ribosomal protein L35 pseudogene 9 13 13 107078105 107078472 + 106425757 106426124 + 100873796 ABBA01027049;AL136159;AMYH02028663;AMYH02028664;NG_032288 pseudo HGNC:39402 INFERRED 2305052 RPL36AP10 ribosomal protein L36a pseudogene 10 1 1 1 p22.2 87289354 87289760 + 89043528 89043934 + 88577845 88578251 + 19123937 100271140 ABBA01045596;AC093578;AMYH02001426;NG_010190 RPL36A_1_70 pseudo HGNC:36175 INFERRED 2303327 RPL36AP1 ribosomal protein L36a pseudogene 1 14 14 14 q22.3 37199584 37199984 - 57150095 57150495 - 56683377 56683777 - 19123937 100131379 ABBA01018231;AL161757;AMYH02029250;NG_009389 RPL36A_19_1371 pseudo HGNC:23548 INFERRED 2305496 RPL36AP11 ribosomal protein L36a pseudogene 11 1 1 1 p22.1 91910415 91910811 - 93656247 93656643 - 93190690 93191086 - 19123937 100129180 ABBA01045526;AC126124;AMYH02001494;NG_010823 RPL36A_2_73 pseudo HGNC:36385 INFERRED 7243252 RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough This locus represents naturally occurring read-through transcription between the neighboring ribosomal protein L36a and heterogeneous nuclear ribonucleoprotein H2 (H') genes on chromosome X. The read-through transcript produces a protein with similarity to the protein encoded by the upstream locus, ribosomal protein L36a. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2011] X X q22 100645878 100669128 + 101390890 101414140 + 6480464;8554872 16344560;20967262;23000965 100529097 H0Y3V9;H7BZ11 ABBA01044978;ABBA01044979;AL035422;AMYH02040066;DA530036;DA998453;NM_001199973;NM_001199974 NP_001186902;NP_001186903 Hs.432485 1647027 STS-AA037456 protein-coding HGNC:48349 REVIEWED 1315369 RPL36A ribosomal protein L36a Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. Although this gene has been referred to as ribosomal protein L44 (RPL44), its official name is ribosomal protein L36a (RPL36A). This gene and the human gene officially named ribosomal protein L36a-like (RPL36AL) encode nearly identical proteins; however, they are distinct genes. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Naturally occurring read-through transcription occurs between this locus and the heterogeneous nuclear ribonucleoprotein H2 (H') gene. [provided by RefSeq, Jan 2011] X X X q22.1 101165405 101170242 + 100645878 100651142 + 101390890 101396154 + 6480464 10409428;11401437;12477932;12962325;14567916;14702039;14752831;15189156;15342556;15489334;15772651;16196087;17353931;20967262;21182205;22354994;22367689;23000965;23398456;24255178;24816145;3542712;7626884;7821789;7959728;8012384;8722009;9110171 6173 H0Y5B4;H7BY91;J3KQN4;P83881;R4GN19 ABBA01044978;AK096711;AL035422;AMYH02040066;AW150895;AY927233;BC001781;BC031015;BC062219;BC070204;BF211310;BG504049;BG943625;BP245950;CH471115;CR542198;D28414;NG_012523;NM_001199972;NM_021029;U78027;Z55036;Z57591 AAB64204;AAH01781;AAH31015;AAH62219;AAH70204;AAX08138;BAA05780;CAG46995;EAX02859;EAX02860;EAX02861;NP_001186901;NP_066357;P83881 Hs.432485;Hs.655348 1773659;5015961;5037552;5126169 D15S1179;D15S1477;D8S2279;RP_L36A_1 L36A;L44L;MGC72020;MIG6;RPL44 60S ribosomal protein L36a;60S ribosomal protein L44;L44-like ribosomal protein;OTTHUMP00000023680;OTTHUMP00000201955;OTTHUMP00000219410;cell growth-inhibiting gene 15 protein;cell migration-inducing gene 6 protein;dJ164F3.3 (ribosomal protein L44);migration-inducing protein 6;ribosomal protein L36a homologue APPROVED protein-coding ENSG00000241343 HGNC:10359 06709 300902 REVIEWED 2304481 RPL36AP12 ribosomal protein L36a pseudogene 12 1 1 1 p21.2 99378581 99379013 + 101117441 101117873 + 100651885 100652317 + 19123937 100130034 ABBA01045437;AC099670;AMYH02001560;NG_011254 RPL36A_2_79 pseudo HGNC:35897 INFERRED 733562 RPL36AL ribosomal protein L36a-like Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 14 14 14 q21 29945224 29947167 - 50085406 50087403 - 49618688 49620685 - 1580863;6480464;8554872 12477932;12490704;15489334;1577483;16196087;17207965;21182203;21182205;21900206;23000965;23246001;24816145;3396452;3542712;8722009;8889548 6166 Q969Q0 AB063609;ABBA01018111;AK311959;AL139099;AMYH02029149;BC000741;BC003145;BC070207;BC107716;BM973694;CH471078;CR542166;DB447621;HY121971;M15661;NG_008920;NG_033054;NM_001001 AAA36589;AAH00741;AAH03145;AAH70207;AAI07717;ADQ33197;BAC19836;BAG34899;CAG46963;EAW65760;NP_000992;Q969Q0 Hs.444749;Hs.745129 1648634;1688201;1792260;2180387;5014937 D6S1904;PMC140079P2;RH71370;SHGC-36981;WI-19962 MGC111574;RPL36A 60S ribosomal protein L36a;60S ribosomal protein L36a-like;OTTHUMP00000178927;ribosomal protein HL44;ribosomal protein L36a;ribosomal protein L36a-like protein APPROVED protein-coding HGNC:10346 01597 180469 REVIEWED 2304822 RPL36AP13 ribosomal protein L36a pseudogene 13 2 2 2 p23.3 24397605 24397876 + 24557381 24557652 + 24334512 24334783 + 19123937 100271323 ABBA01045109;AC009228;AMYH02003411;NG_011127;NG_029516 RPL36A_3_200 pseudo HGNC:35877 INFERRED 2304821 RPL36AP14 ribosomal protein L36a pseudogene 14 2 2 2 p21-p16 46322732 46323047 - 46483999 46484314 - 46256860 46257175 - 19123937 100271324 ABBA01075135;AC016696;AMYH02003733;NG_011136 RPL36A_3_214 pseudo HGNC:36788 INFERRED 2304820 RPL36AP15 ribosomal protein L36a pseudogene 15 2 2 2 p16 47864404 47864790 - 48024893 48025279 - 47797754 47798140 - 19123937 100271325 ABBA01075176;AC006509;AMYH02003766;NG_011142 RPL36A_4_216 pseudo HGNC:36648 INFERRED 2304819 RPL36AP17 ribosomal protein L36a pseudogene 17 3 3 3 p22.3 35855258 35855616 + 35913350 35913708 + 35871858 35872216 + 19123937 100271326 ABBA01024877;AC104308;AMYH02006541;NG_011148 RPL36A_4_361 pseudo HGNC:35750 INFERRED 2304818 RPL36AP16 ribosomal protein L36a pseudogene 16 2 2 2 p14 69672926 69673323 - 69821821 69822218 - 69594689 69595086 - 19123937 100271327 ABBA01075507;AC092431;AMYH02004022;NG_011153 RPL36A_5_238 pseudo HGNC:36416 INFERRED 2304817 RPL36AP18 ribosomal protein L36a pseudogene 18 4 4 4 q21.1 74622522 74622917 + 77322377 77322772 + 76401224 76401619 + 19123937 100271328 ABBA01063360;AC096743;AMYH02009513;NG_011157 RPL36A_5_491 pseudo HGNC:35484 INFERRED 2304816 RPL36AP20 ribosomal protein L36a pseudogene 20 5 5 5 q33.1 147950648 147950947 - 151875279 151875578 - 152495718 152496017 - 19123937 100271329 ABBA01026248;AC008571;AMYH02012482;NG_011160 RPL36A_6_630 pseudo HGNC:36250 INFERRED 1343028 RPL36AP2 ribosomal protein L36a pseudogene 2 14 14 14 q23.3 45790074 45790840 + 65735531 65736297 + 65268813 65269579 + 19123937 326301 ABBA01018384;AL355076;AMYH02029372;NG_002553 RPL36A_18_1380 pseudo HGNC:19777 INFERRED 2304740 RPL36AP23 ribosomal protein L36a pseudogene 23 4 4 4 q25 109766456 109766847 + 112472993 112473384 + 111551837 111552228 + 19123937 729075 ABBA01063804;AC083795;AMYH02009921;NG_011389 RPL36A_6_507 pseudo HGNC:36002 INFERRED 2304815 RPL36AP19 ribosomal protein L36a pseudogene 19 4 4 4 q25 110385765 110386163 + 113092336 113092734 + 112171180 112171578 + 19123937 100271330 ABBA01063814;AC093663;AMYH02009931;NG_011165 RPL36A_7_509 pseudo HGNC:36436 INFERRED 2304594 RPL36AP24 ribosomal protein L36a pseudogene 24 6 6 6 q21 109385390 109385793 + 108639256 108639658 + 108318052 108318454 + 19123937 100271508 ABBA01026149;AMYH02014272;NG_010779;Z98742 1821628;1958902;1958904;1958906;1958908;1958910;1958912;1958914;1958916;2213090 ECD11900;REN50318;REN50319;REN50320;REN50321;REN50322;REN50323;REN50324;REN50325;stSG634277 RPL36A_10_733 pseudo HGNC:36252 INFERRED 736673 RPL36 ribosomal protein L36 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L36E family of ribosomal proteins. It is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5627643 5629049 + 5690272 5691678 + 5690261 5691667 + 6480464 11042152;11076863;11230166;11256614;11401437;11875025;12477932;12962325;14567916;15189156;15489334;15489336;15635413;16169070;16196087;16341674;16381901;17353931;17361185;17620599;18029348;18781797;19061985;19738201;19805454;19946888;21139048;21145461;21182205;21319273;21832049;21906983;21963094;22029674;22505724;22623428;22863883;22939629;23000965;23246001;23398456;23463506;24250222;24457600;24816145;8722009 25873 J3KTD3;J3QSB5;Q9Y3U8 AB046410;AB061833;ABBA01056001;AC011499;AF077043;AK311990;AL050273;AMYH02035331;BC003052;BC004971;BC091508;BM015858;BM841746;CH471139;CR533465;NG_017015;NG_033142;NM_015414;NM_033643 AAD27776;AAH03052;AAH04971;AAH91508;ABM83022;ABM86215;BAB21256;BAB79471;BAG34928;CAB43374;CAG38496;CAL38051;CAL38621;EAW69155;EAW69158;NP_056229;NP_378669;Q9Y3U8 Hs.408018 1768315;2108401;5124477 PRSS15_7943;RH69943;RP_L36 DKFZp566B023;L36 60S ribosomal protein L36 APPROVED protein-coding ENSG00000130255 HGNC:13631 10201 REVIEWED 2305795 RPL36AP26 ribosomal protein L36a pseudogene 26 7 7 7 p21.2 15720729 15721132 - 15741003 15741406 - 15701378 15701781 - 19123937 729909 ABBA01056624;AC005550;AMYH02015288;CH236948;NG_011362 RPL36A_8_787 pseudo HGNC:36758 INFERRED 2304593 RPL36AP28 ribosomal protein L36a pseudogene 28 7 7 7 q36.1 146863307 146863668 - 152299239 152299600 - 152602154 152602515 - 19123937 100271509 ABBA01035124;AC104843;AMYH02017096;NG_010785 RPL36A_10_864 pseudo HGNC:36702 INFERRED 2305900 RPL36AP27 ribosomal protein L36a pseudogene 27 7 7 7 p13 44649576 44649957 - 44550571 44550952 - 44510972 44511353 - 19123937 100128072 ABBA01058219;AC004938;AMYH02015620;CH236960;NG_010387;NG_013088 1650104;2110603;2179517 NPC1L1_9593;RH46066;SGC38249 RPL36A_9_808 pseudo HGNC:35650 INFERRED 2304591 RPL36AP30 ribosomal protein L36a pseudogene 30 7 7 7 q36.3 151482767 151483146 - 157055716 157056095 - 157263022 157263401 - 19123937 100271511 ABBA01032363;AC004975;AMYH02017158;CH236954;NG_010796 RPL36A_11_867 pseudo HGNC:36216 INFERRED 2304592 RPL36AP29 ribosomal protein L36a pseudogene 29 7 7 7 p21.1 16228317 16228637 + 16248573 16248893 + 16208948 16209268 + 19123937 100271510 ABBA01056629;AC073629;AMYH02015295;CH236948;NG_010792;NG_032690 RPL36A_11_788 pseudo HGNC:36897 INFERRED 2305115 RPL36AP31 ribosomal protein L36a pseudogene 31 8 8 8 q21.3 83223291 83223718 + 87028987 87029414 + 86016758 86017185 + 19123937 642320 ABBA01037355;AC023194;AMYH02018356;NG_010062 RPL36A_13_923 pseudo HGNC:36066 INFERRED 2304590 RPL36AP32 ribosomal protein L36a pseudogene 32 8 8 8 p21.1 27627436 27627748 + 28667620 28667931 + 28810103 28810414 + 19123937 100271512 ABBA01005609;AC040975;AMYH02017692;NG_010801;NG_016981 RPL36A_12_887 pseudo HGNC:36540 INFERRED 2304589 RPL36AP34 ribosomal protein L36a pseudogene 34 9 9 9 p21 27138485 27138784 + 27210325 27210624 + 27210327 27210626 + 19123937 100271513 ABBA01065130;AL355433;AMYH02019349;NG_010808 RPL36A_14_970 pseudo HGNC:35882 INFERRED 2305667 RPL36AP33 ribosomal protein L36a pseudogene 33 9 9 9 p13.3 35441092 35441489 + 35507531 35507928 + 35507534 35507931 + 12477932;19123937 100191039 Q05CT7 ABBA01064991;AL133476;AMYH02019460;BC020828;NG_008765 AAH20828 Hs.684462 KIAA0375;MGC23914;RPL36A_15_975 pseudo HGNC:36475 INFERRED 2304465 RPL36AP35 ribosomal protein L36a pseudogene 35 9 9 9 q31.3 82083294 82083615 + 111583977 111584298 + 108821697 108822018 + 19123937 100271610 ABBA01042777;AL358779;AMYH02021430;NG_011295 RPL36A_16_1006 pseudo HGNC:35639 INFERRED 2304985 RPL36AP36 ribosomal protein L36a pseudogene 36 10 10 10 p13 13128243 13128639 - 13201421 13201817 - 13159421 13159817 - 19123937 644834 ABBA01034632;AL355355;AMYH02022171;NG_011167 RPL36A_13_1022 pseudo HGNC:36326 INFERRED 2304814 RPL36AP25 ribosomal protein L36a pseudogene 25 6 6 6 p22.3 21955635 21955876 - 20722559 20722800 - 20722328 20722569 - 19123937 100271331 ABBA01022264;AL035090;AMYH02013263;NG_011170;NG_021195 RPL36A_7_666 pseudo HGNC:35926 INFERRED 1349669 RPL36AP4 ribosomal protein L36a pseudogene 4 14 14 14 q32.12 73764330 73764793 + 93710306 93710769 + 93243960 93244423 + 19123937 326304 ABBA01030434;AC005924;AL132838;AMYH02029771;NG_002556 2191239 MARC_16723-16724:1018027059:1 RPL36A_19_1402 pseudo HGNC:19802 INFERRED 2304436 RPL36AP38 ribosomal protein L36a pseudogene 38 11 11 11 q14 71756398 71756714 - 74449525 74449841 - 74738480 74738796 - 19123937 100271642 ABBA01017480;AMYH02025109;AP001324;NG_010129 RPL36A_16_1155 pseudo HGNC:35594 INFERRED 2304813 RPL36AP21 ribosomal protein L36a pseudogene 21 5 5 5 p15.1 18718944 18719315 + 18049653 18050024 + 18049544 18049915 + 19123937 100271332 ABBA01054571;AC034247;AMYH02010961;NG_011174 RPL36A_8_545 pseudo HGNC:37041 INFERRED 2304435 RPL36AP39 ribosomal protein L36a pseudogene 39 11 11 11 p15.5 1851586 1851981 + 1813755 1814150 + 1792525 1792920 + 19123937 100271643 ABBA01012160;AC139143;AMYH02024178;NG_010138 1834450;2089006;2089008;2089010;2089012;2089014;2089016;2216392 ECD18373;REN115763;REN115764;REN115765;REN115766;REN115767;REN115768;stSG548487 RPL36A_17_1112 pseudo HGNC:36074 INFERRED 2304408 RPL36AP37 ribosomal protein L36a pseudogene 37 15 11 11 p15.1 11994609 11994997 + 16996176 16996591 - 16974629 16975044 - 14567916;15189156;17353931;19123937;21145461;3542712 729362 AC116533;AMYH02024377;NG_010078 RPL36A_14_1122 pseudo HGNC:36969 INFERRED 2304394 RPL36AP40 ribosomal protein L36a pseudogene 40 11 11 11 p14.3 25754845 25755346 - 25609911 25610412 - 25588365 25588866 - 11401437;12477932;19123937 554234 ABBA01060989;AC015820;AMYH02024479;BC058160;NG_005141 Hs.502159 5014937 D6S1904 RPL36A_15_1127 pseudo HGNC:36300 INFERRED 2304434 RPL36AP41 ribosomal protein L36a pseudogene 41 12 12 12 q14.2 63930534 63930839 - 64265519 64265824 - 63871739 63872044 - 19123937 100271644 ABBA01026618;AC079866;AMYH02026651;NG_010145 RPL36A_17_1248 pseudo HGNC:35813 INFERRED 2304432 RPL36AP43 ribosomal protein L36a pseudogene 43 15 15 15 q26 66633887 66634285 - 90231113 90231511 - 89687882 89688280 - 19123937 100271646 ABBA01053019;AC013787;AMYH02031026;NG_010155 RPL36A_21_1460 pseudo HGNC:36791 INFERRED 2304433 RPL36AP42 ribosomal protein L36a pseudogene 42 14 14 14 q 29945278 29945655 - 50085460 50085837 - 49618742 49619119 - 19123937 100271645 ABBA01018111;AL139099;AMYH02029149;NG_010151;NG_033054 1688201;1792260;2180387 PMC140079P2;RH71370;WI-19962 RPL36A_18_1363 pseudo HGNC:36277 INFERRED 2305886 RPL36AP45 ribosomal protein L36a pseudogene 45 15 15 15 q24.2 52429783 52430100 - 75478992 75479309 - 75186651 75186968 - 19123937;23648065 441727 AC113208;AMYH02030813;NG_011373 RPL36A_20_1453 pseudo HGNC:36032 INFERRED 2305724 RPL36AP48 ribosomal protein L36a pseudogene 48 17 17 17 q24.2 61793461 61793847 + 65220816 65221202 + 67224700 67225086 + 19123937 646175 ABBA01029009;AC007448;AMYH02033838;NG_010166 RPL36A_23_1571 pseudo HGNC:36721 INFERRED 2304844 RPL36AP44 ribosomal protein L36a pseudogene 44 15 15 15 q22.2 37570735 37571128 + 60682537 60682930 + 60390338 60390731 + 19123937 100132199 ABBA01038951;AC087385;AMYH02030554;NG_010534 RPL36A_21_1441 pseudo HGNC:36986 INFERRED 2305559 RPL36AP49 ribosomal protein L36a pseudogene 49 18 18 18 p11.21 13800514 13800921 - 13919572 13919979 - 13919573 13919980 - 19123937 284230 ABBA01074043;AMYH02034353;AP001086;NG_010372;NG_011819 RPL36A_23_1584 pseudo HGNC:36274 INFERRED 2304431 RPL36AP47 ribosomal protein L36a pseudogene 47 17 17 17 q23.2 54783546 54783920 + 60397241 60397615 + 62319880 62320254 + 19123937 100271647 ABBA01035357;AC053481;AMYH02033762;NG_011347 RPL36A_22_1567 pseudo HGNC:35624 INFERRED 2304430 RPL36AP50 ribosomal protein L36a pseudogene 50 19 19 19 q13.4 52524693 52524965 + 55485185 55485457 + 54973817 54974089 + 19123937 100271648 ABBA01068142;AC011476;AMYH02036446;CU151839;NG_010171 RPL36A_26_1671 pseudo HGNC:36372 INFERRED 1352436 RPL36AP5 ribosomal protein L36a pseudogene 5 6 6 6 p21.1 44019776 44020177 + 42467416 42467817 + 42499678 42500079 + 19123937 387090 ABBA01050728;AL591473;AMYH02013622;NG_009373 RPL36A_9_691;bA256G5.1 pseudo HGNC:21258 INFERRED 2305468 RPL36AP51 ribosomal protein L36a pseudogene 51 19 19 19 p12 21251046 21251438 + 21416108 21416500 + 21233306 21233698 + 19123937 649299 ABBA01051370;AC010620;AMYH02035800;NG_010444 RPL36A_25_1638 pseudo HGNC:36632 INFERRED 7204944 RPL36AP55 ribosomal protein L36a pseudogene 55 10 10 10 27956558 27957508 + 28193141 28194091 + 27904212 27905162 + 100420206 ABBA01034382;AL390866;AMYH02022522;NG_025480 pseudo HGNC:44939 INFERRED 2304464 RPL36AP53 ribosomal protein L36a pseudogene 53 X X X q24 114259220 114259622 + 113824051 113824453 + 114589583 114589985 + 19123937 100271611 ABBA01053582;AC007022;AC233299;AMYH02040267;NG_011299 RPL36A_27_1803 pseudo HGNC:36517 INFERRED 2304463 RPL36AP54 ribosomal protein L36a pseudogene 54 X X X q26 134043564 134043864 + 133656730 133657030 + 134522700 134523000 + 19123937 100271612 ABBA01042451;AC004383;AMYH02040528;NG_011305 RPL36A_28_1814 pseudo HGNC:35831 INFERRED 2303862 RPL36AP7 ribosomal protein L36a pseudogene 7 17 17 17 q25.1 69927371 69927768 + 73334881 73335278 + 75338800 75339197 + 11181995;19123937 728202 ABBA01028801;AC011933;AMYH02033992;CH471099;NG_006535;NG_029556 EAW89273 RPL36A_24_1574 pseudo HGNC:31328 INFERRED 2303828 RPL36AP8 ribosomal protein L36a pseudogene 8 15 15 15 q14 11994601 11994997 + 35235252 35235648 + 34943051 34943447 + 11181995;19123937 643007 ABBA01038516;AC018868;AMYH02030180;CH471125;NG_009452 EAW92322 RPL36A_20_1424 pseudo HGNC:30973 INFERRED 2305053 RPL36AP9 ribosomal protein L36a pseudogene 9 1 1 1 p34.1 40013139 40013517 - 41730173 41730551 - 41264501 41264879 - 19123937 100271139 ABBA01023152;AC093151;AMYH02000868;NG_010185 RPL36A_1_38 pseudo HGNC:35872 INFERRED 2303331 RPL36AP6 ribosomal protein L36a pseudogene 6 9 9 9 q31.2 81095701 81096100 - 110596738 110597137 - 107834457 107834856 - 19123937 641556 ABBA01042782;AL162389;AMYH02021425;NG_009374 RPL36A_12_1002;bA380I20.1 pseudo HGNC:23365 INFERRED 2305906 RPL36AP46 ribosomal protein L36a pseudogene 46 17 17 17 q23.2 57905073 57905390 - 58804526 58804843 - 60727165 60727482 - 19123937 729621 ABBA01035400;AC110602;AMYH02033727;NG_010098 RPL36A_22_1565 pseudo HGNC:35812 INFERRED 2305203 RPL36P10 ribosomal protein L36 pseudogene 10 6 6 6 p12.3 47958576 47958879 + 46406047 46406350 + 46438310 46438613 + 19123937 100271011 ABBA01050620;AL359633;AMYH02013682;NG_010851;NG_030437 RPL36_3_697 pseudo HGNC:36318 INFERRED 1345831 RPL36P1 ribosomal protein L36 pseudogene 1 20 20 20 q13 48211318 48211545 + 51506696 51506923 + 52890157 52890384 + 19123937 140697 ABBA01052840;AL121902;AMYH02037285;NG_000983 RPL36_9_1713;bA80K6.3 pseudo HGNC:16338 INFERRED 2305202 RPL36P12 ribosomal protein L36 pseudogene 12 7 7 7 q22-q31.1 99690670 99691096 + 104885036 104885462 + 105244589 105245015 + 19123937 100271012 ABBA01057958;AC004884;AMYH02016470;CH236947;NG_010855 RPL36_4_831 pseudo HGNC:35590 INFERRED 2304865 RPL36P11 ribosomal protein L36 pseudogene 11 5 5 5 q31.3 136065417 136065735 + 139988670 139988988 + 140609085 140609403 + 11181995;19123937 642531 ABBA01026424;AC116353;AMYH02012340;CH471062;NG_011386 EAW62038 RPL36_1_620 pseudo HGNC:36271 INFERRED 2304812 RPL36P15 ribosomal protein L36 pseudogene 15 12 12 12 q24.22 116975654 116975973 + 117346117 117346436 + 116908312 116908631 + 19123937 100271334 ABBA01020023;AC083806;AMYH02027305;NG_011182 RPL36_6_1283 pseudo HGNC:36787 INFERRED 2304991 RPL36P14 ribosomal protein L36 pseudogene 14 INTERACTS WITH zinc atom; zinc(0) 9 9 9 q31.3 81888368 81888801 + 111389046 111389479 + 108626766 108627199 + 6480464 19123937 347292 ABBA01042778;AL669983;AMYH02021428;NG_009517 1768315 RP_L36 RPL36_5_1005 pseudo HGNC:35734 INFERRED 2304811 RPL36P17 ribosomal protein L36 pseudogene 17 22 22 22 q12.2 14300817 14301125 - 30501089 30501397 - 30105100 30105408 - 19123937 100271336 ABBA01055291;AC003071;AMYH02038213;NG_011192 RPL36_8_1743 pseudo HGNC:35884 INFERRED 2305467 RPL36P16 ribosomal protein L36 pseudogene 16 19 19 19 q13.2 38475879 38476184 + 41675866 41675973 + 41169961 41170068 + 11181079;12832682;15128046;17717079;19123937;1974816;2308828;2573390;2726448;2813061;9890157 651600 ABBA01040800;AC008962;AMYH02036130;NG_029341 RPL36_7_1657 pseudo HGNC:37010 INFERRED 2304759 RPL36P18 ribosomal protein L36 pseudogene 18 X X X q23 114868139 114868540 + 114432962 114433363 + 115198399 115198800 + 19123937 100271394 ABBA01053651;AL589786;AMYH02040273;NG_010182;NG_021299 RPL36_10_1804 pseudo HGNC:36856 INFERRED 6481500 RPL36P19 ribosomal protein L36 pseudogene 19 13 13 43968663 43968965 + 43394527 43394829 + 100873855 ABBA01021247;AL138823;AMYH02027943;NG_032527 pseudo HGNC:42648 INFERRED 7174983 RPL36P20 ribosomal protein L36 pseudogene 20 3 3 3 p22.1 41936105 41936423 + 41996937 41997252 + 41955445 41955760 + 729032 ABBA01024776;AC137935;AMYH02006618;NG_030110 pseudo HGNC:44564 INFERRED 1350263 RPL36P2 ribosomal protein L36 pseudogene 2 20 20 20 q13.1 45941527 45941927 + 49237258 49237658 + 50620721 50621121 + 19123937 140751 ABBA01052781;AL133230;AMYH02037237;NG_000994;NG_034040 RPL36_8_1711;dJ530I15.5 pseudo HGNC:16570 INFERRED 1346177 RPL36P3 ribosomal protein L36 pseudogene 3 14 14 14 q24.2 53459416 53459811 - 73396277 73396672 - 72929569 72929964 - 19123937;9847074 326303 ABBA01030777;AC007160;AMYH02029478;NG_002555 RPL36AP3;RPL36_6_1387 pseudo HGNC:19786 INFERRED 1347593 RPL36P4 ribosomal protein L36 pseudogene 4 20 20 20 q11.2 30880442 30880871 - 34132122 34132551 - 35544377 35544805 - 19123937 140750 ABBA01019158;AL121586;AMYH02037001;FO393401;NG_000993 1833986;1974552;1974554;1974556;1974558;1974560;1974562;1974564;1974566 ECD18140;REN58162;REN58163;REN58164;REN58165;REN58166;REN58167;REN58168;REN58169 RPL36_7_1697;dJ477O4.3 pseudo HGNC:16569 INFERRED 2305923 RPL36P5 ribosomal protein L36 pseudogene 5 1 1 1 p36.11 22663993 22664630 - 24334371 24335009 - 24007881 24008519 - 19123937 127295 ABBA01059895;AL590609;AMYH02000516;NG_010335 RPL36_1_21 pseudo HGNC:35567 INFERRED 2305204 RPL36P7 ribosomal protein L36 pseudogene 7 3 3 3 q29 195899793 195900072 - 197307221 197307500 - 197580350 197580629 - 19123937 100271010 ABBA01033772;AC132008;AMYH02008519;NG_010847 RPL36_3_453 pseudo HGNC:35830 INFERRED 2305206 RPL36P6 ribosomal protein L36 pseudogene 6 1 1 1 q43 214723945 214724231 - 241468903 241469189 - 241305603 241305889 - 19123937 100271008 ABBA01033247;AL592076;AMYH02003035;NG_010839 RPL36_2_186 pseudo HGNC:36046 INFERRED 2305917 RPL36P8 ribosomal protein L36 pseudogene 8 4 4 4 q21.1 74258387 74258702 - 76957903 76958217 - 76036750 76037064 - 19123937 643205 ABBA01063355;AC112719;AMYH02009505;NG_010694 RPL36_4_490 pseudo HGNC:36493 INFERRED 2305205 RPL36P9 ribosomal protein L36 pseudogene 9 6 6 6 p21.2 37129332 37129719 + 35575370 35575757 + 35607593 35607980 + 19123937 100271009 ABBA01038238;AL033519;AMYH02013543;NG_010844;NG_012645 RPL36_2_687 pseudo HGNC:36746 INFERRED 1345901 RPL37AP1 ribosomal protein L37a pseudogene 1 20 20 20 q12 39803795 39804165 - 43095143 43095513 - 44466503 44466873 - 19123937 140717 ABBA01052642;AL132772;AMYH02037135;NG_000988 RPL37A_5_1704;dJ1013A22.4 pseudo HGNC:16548 INFERRED 2304810 RPL37AP2 ribosomal protein L37a pseudogene 2 4 4 4 q12 50339329 50339619 - 52844248 52844538 - 51978082 51978372 - 19123937 100271337 ABBA01003373;AC104784;AMYH02009196;NG_011201 RPL37A_1_476 pseudo HGNC:36880 INFERRED 2305861 RPL37AP3 ribosomal protein L37a pseudogene 3 6 6 6 q21 109884785 109885031 + 109138883 109139129 + 108817680 108817926 + 19123937 100132988 ABBA01026142;AMYH02014276;NG_010643;Z95118 RPL37A_1_734 pseudo HGNC:36222 INFERRED 731374 RPL37 ribosomal protein L37 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37E family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C2C2-type zinc finger-like motif. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 5 5 5 p13 40720028 40723995 - 40831430 40835387 - 40831328 40835285 - 6480464 11401437;11875025;12477932;12962325;14567916;15189156;15485924;15489334;17353931;20935493;21139048;21832049;21890473;21963094;21988832;22939629;23000965;23398456;23874713;24816145;7545944;7588717;8722009;9582194 6167 D6R9X9;D6RG19;P61927 AB007183;AB007184;AB055770;AB061834;ABBA01024225;AC008810;AK311827;AMYH02011215;BC067790;BC070206;BC079477;BC084576;BU954721;BX647123;CH471119;CR456890;D23661;L11567;NM_000997 AAA62148;AAH79477;AAH84576;BAA04888;BAA25842;BAA25843;BAB62864;BAB79472;BAG34769;CAG33171;EAW56002;EAW56003;EAW56004;EAW56005;NP_000988;P61927 Hs.447582;Hs.558601;Hs.731513 1665060;2128135;5022185 D5S2438;D8S1938;RP_L37_1 DKFZp686G1699;G1.16;L37;MGC99572 60S ribosomal protein L37;60S ribosomal protein L37a;OTTHUMP00000120001;OTTHUMP00000221318;OTTHUMP00000221792 APPROVED protein-coding HGNC:10347 16047 604181 REVIEWED 2304809 RPL37AP4 ribosomal protein L37a pseudogene 4 6 6 6 q26 164514267 164514543 + 163784230 163784506 + 163363198 163363474 + 19123937 100271338 ABBA01015112;AL031121;AMYH02014931;NG_011210 RPL37A_2_776 pseudo HGNC:35586 INFERRED 2304734 RPL37AP5 ribosomal protein L37a pseudogene 5 7 7 7 q34 133650380 133650761 - 138912224 138912605 - 139227478 139227859 - 19123937 100129856 ABBA01001186;AC009220;AMYH02016884;CH236950;NG_010341 RPL37A_2_859 pseudo HGNC:36977 INFERRED 2304808 RPL37AP6 ribosomal protein L37a pseudogene 6 7 7 7 q22-q31 101895807 101896079 + 107090535 107090807 + 107450090 107450362 + 19123937 100271339 ABBA01057907;AC002381;AMYH02016513;CH236947;NG_011215;NG_028095 RPL37A_3_833 pseudo HGNC:36824 INFERRED 2305333 RPL37AP7 ribosomal protein L37a pseudogene 7 11 11 11 p14.1 27651058 27651430 + 27505366 27505738 + 27483819 27484191 + 19123937;22504420 100131730 ABBA01060971;AC100771;AMYH02024504;NG_010768 RPL37A_4_1128 pseudo HGNC:35888 INFERRED 2304467 RPL37AP9 ribosomal protein L37a pseudogene 9 12 12 12 p13.1 18142470 18142745 - 12993738 12994013 - 12840804 12841079 - 19123937 100271606 ABBA01067853;AC007215;AMYH02026066;NG_011276 RPL37A_4_1209 pseudo HGNC:36835 INFERRED 2305513 RPL37AP8 ribosomal protein L37a pseudogene 8 ENCODES a protein that exhibits metal ion binding (inferred); structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN ribosome (inferred); INTERACTS WITH paracetamol 11 11 11 q23.1 108913083 108913767 - 111759867 111760551 - 111889143 111889827 - 6480464 11181995;19123937;21906983;24816145 644338 A6NKH3 ABBA01039811;AMYH02025576;AP000907;AP001781;CH471065;NG_011253 A6NKH3;EAW67161 1774359;1851592;2127623 D11S2244E;RH17897;SHGC-31520 RPL37A_3_1174 pseudo HGNC:35645 INFERRED 1347650 RPL37P1 ribosomal protein L37 pseudogene 1 20 20 20 q11.2 30924546 30924829 + 34176247 34176530 + 35588325 35588608 + 19123937 140696 ABBA01019154;AL389875;AMYH02037004;FO393401;NG_000982 1836798;1974874;1974876;1974878;1974880;1974882;1974884;1974886;1974888;1974890;1974892;1974894;1974896;2215452;2215454 ECD19563;REN58323;REN58324;REN58325;REN58326;REN58327;REN58328;REN58329;REN58330;REN58331;REN58332;REN58333;REN58334;stSG636719;stSG636720 RPL37_9_1698;bA563A22B.2 pseudo HGNC:16337 INFERRED 2305199 RPL37P10 ribosomal protein L37 pseudogene 10 2 2 2 p11.2 83648016 83648279 + 83822107 83822370 + 83594983 83595246 + 19123937 100271015 ABBA01075710;AC023881;AMYH02004149;NG_010869 RPL37_2_245 pseudo HGNC:36951 INFERRED 2305198 RPL37P11 ribosomal protein L37 pseudogene 11 2 2 2 p23 26744687 26744978 - 26901087 26901378 - 26678219 26678510 - 19123937 100271016 ABBA01045187;AC015977;AMYH02003464;NG_010873 1665060 D8S1938 RPL37_3_203 pseudo HGNC:36459 INFERRED 2305197 RPL37P12 ribosomal protein L37 pseudogene 12 2 2 2 q13 104478901 104479210 + 110310114 110310423 + 109552537 109552846 + 19123937 100271017 ABBA01009001;AC011753;AMYH02004520;NG_010879 RPL37_3_259 pseudo HGNC:36989 INFERRED 2305196 RPL37P13 ribosomal protein L37 pseudogene 13 2 2 2 p15 62579514 62579795 - 62734677 62734958 - 62507542 62507823 - 19123937 100271018 ABBA01075389;AC107083;AMYH02003944;NG_010885 RPL37_4_228 pseudo HGNC:36255 INFERRED 2305201 RPL36P13 ribosomal protein L36 pseudogene 13 7 7 7 q31 108743611 108744006 - 113937122 113937517 - 114297067 114297462 - 19123937 100271013 ABBA01057830;AC073626;AMYH02016602;CH236947;NG_007491;NG_010861 1803598;1804832;1837246;2061014;2061016;2061018;2061020;2061022;2061024;2061026;2061028;2061030;2061032;2061034;2061036;2192580;2192582 ECD02703;ECD03351;ECD19790;REN101682;REN101683;REN101684;REN101685;REN101686;REN101687;REN101688;REN101689;REN101690;REN101691;REN101692;REN101693;stSG611210;stSG611211 RPL36_5_837 pseudo HGNC:36941 INFERRED 2304961 RPL37P17 ribosomal protein L37 pseudogene 17 9 9 9 q34 104138704 104138968 - 133600173 133600437 - 130724786 130725050 - 19123937 100271202 ABBA01012061;AL359092;AMYH02021770;NG_010508 RPL37_7_1015 pseudo HGNC:36023 INFERRED 2304805 RPL37P18 ribosomal protein L37 pseudogene 18 10 10 10 p11.22-p11.21 34718092 34718316 - 34952805 34953029 - 34663877 34664101 - 19123937 100271342 ABBA01033354;AL138768;AMYH02022605;NG_011234 RPL37_8_1033 pseudo HGNC:35919 INFERRED 2304588 RPL37P19 ribosomal protein L37 pseudogene 19 12 12 12 q13.1 47246380 47246665 - 48448751 48449036 - 48054968 48055253 - 19123937 100271515 ABBA01031474;AC004801;AMYH02026418;NG_010817 RPL37_10_1232 pseudo HGNC:35576 INFERRED 1351046 RPL37P2 ribosomal protein L37 pseudogene 2 11 11 11 q13 64783447 64783812 - 67450164 67450529 - 67682693 67683058 - 19123937 116730 ABBA01024026;AMYH02024997;AP003385;NG_001301;NG_012255;U56856 1665060 D8S1938 PSANK1;RPL37_9_1150 pseudo HGNC:17092 INFERRED 2304807 RPL37P20 ribosomal protein L37 pseudogene 20 12 12 12 p13 8762299 8762589 + 7139412 7139702 + 7032108 7032398 + 19123937 100271340 ABBA01017671;AC006512;AMYH02025961;NG_011219 RPL37_6_1200 pseudo HGNC:36562 INFERRED 2304587 RPL37P21 ribosomal protein L37 pseudogene 21 13 13 13 q21.33 49808266 49808547 - 68905464 68905745 - 68331332 68331613 - 19123937 100271516 ABBA01050294;AL356954;AMYH02028207;NG_010821 RPL37_11_1318 pseudo HGNC:36256 INFERRED 2304806 RPL37P22 ribosomal protein L37 pseudogene 22 17 17 17 q12 30314007 30314262 + 33403811 33404066 + 35076792 35077047 + 19123937 100271341 ABBA01011225;AC004223;AMYH02033342;NG_011228 RPL37_7_1538 pseudo HGNC:37019 INFERRED 2305195 RPL37P14 ribosomal protein L37 pseudogene 14 4 4 4 p13-p12 40935234 40935524 + 40493752 40494042 + 40491735 40492025 + 19123937 100271019 ABBA01014249;AC098869;AMYH02009077;NG_010890 RPL37_4_470 pseudo HGNC:36871 INFERRED 2305193 RPL37P16 ribosomal protein L37 pseudogene 16 7 7 7 q32.1 122876587 122876878 - 128073476 128073767 - 128433422 128433713 - 19123937 100271021 ABBA01057673;AC010655;AMYH02016716;NG_010897 RPL37_6_843 pseudo HGNC:35949 INFERRED 2305194 RPL37P15 ribosomal protein L37 pseudogene 15 6 6 6 q12-q13 71196684 71196977 - 70808281 70808574 - 70098389 70098682 - 19123937 100271020 ABBA01040266;AL133388;AMYH02013872;NG_010894 RPL37_5_710 pseudo HGNC:36659 INFERRED 2304758 RPL37P24 ribosomal protein L37 pseudogene 24 X X X p11.22 58005030 58005323 + 54173799 54174092 + 54147366 54147659 + 19123937 100271395 ABBA01069671;AL589872;AMYH02039486;NG_010186;NG_021316 RPL37_11_1779 pseudo HGNC:36201 INFERRED 2305838 RPL37P23 ribosomal protein L37 pseudogene 23 19 19 19 q13.41 49695441 49696211 + 52645879 52646649 + 52142626 52143396 + 19123937 648217 ABBA01068261;AC011468;AMYH02036397;NG_010124 RPL37_8_1665 pseudo HGNC:37003 INFERRED 1348663 RPL37P3 ribosomal protein L37 pseudogene 3 21 21 21 q21.1 4444929 4445288 - 19266465 19266824 - 17894148 17894507 - 10830953;19123937 378818 ABBA01057127;AMYH02037562;AP000745;AP001671;NG_005972 RL37P;RPL37_13_1720 pseudo HGNC:17238 INFERRED 1605743 RPL37P5 ribosomal protein L37 pseudogene 5 14 14 14 q23.1 41088865 41089209 - 61038728 61039069 - 60572010 60572351 - 19123937 654369 ABBA01018283;AL049874;AMYH02029296;NG_005974 RPL37_12_1377 pseudo HGNC:23549 INFERRED 2305390 RPL37P7 ribosomal protein L37 pseudogene 7 1 1 1 p32.3 52594924 52595213 + 54307218 54307507 + 53841545 53841834 + 19123937 100270890 ABBA01074731;AL049745;AMYH02001042;NG_010225 RPL37_1_52 pseudo HGNC:36499 INFERRED 2305200 RPL37P8 ribosomal protein L37 pseudogene 8 1 1 1 q44 218147612 218147902 - 244857732 244858022 - 244694430 244694720 - 19123937 100271014 ABBA01047195;AL451007;AMYH02003087;NG_010864 1665060;2128135 D8S1938;RP_L37_1 RPL37_2_190 pseudo HGNC:36279 INFERRED 1317728 RPL37A ribosomal protein L37a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37AE family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C4-type zinc finger-like domain. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 2 2 2 q35 211131391 211134061 + 217363520 217366190 + 216498797 216501467 + 6480464 11401437;12477932;12962325;1437567;14567916;14702039;15189156;15489334;16169070;16196087;17353931;18816836;21139048;21145461;21182205;21832049;21890473;21906983;21963094;21988832;22939629;23246001;23398456;23443559;24816145;25015289;7821789;8224875;8722009 6168 C9J4Z3;E9PEL3;G5E9R3;M0R0A1;M0R2L6;P61513;Q6P4E4 ABBA01062816;AC073321;AK023419;AK289472;AK291857;AMYH02005759;BC000555;BC014262;BC016748;BC039030;BC047872;BC063476;BC067789;BC082239;CD249666;CH471063;CR542152;D28355;L06499;L22154;NM_000998;X66699 AAA60280;AAH00555;AAH14262;AAH16748;AAH63476;AAH67789;AAH82239;AAY15078;BAA05721;BAF82161;BAF84546;CAA47244;CAG46949;EAW70569;EAW70570;EAW70571;NP_000989;P61513 Hs.433701 2136230;2162943;2183518;5111953 D2S1289;G43322;RH36187;WI-16081 FLJ13357;L37A;MGC74786 60S ribosomal protein L37a;OTTHUMP00000164051;OTTHUMP00000207758;OTTHUMP00000207759 APPROVED protein-coding HGNC:10348 17997 613314 REVIEWED 2305447 RPL37P9 ribosomal protein L37 pseudogene 9 1 1 1 p36.31-p36.23 6009134 6009406 - 6894388 6894660 - 6834328 6834600 - 19123937 100270828 ABBA01035468;AL590128;AMYH02000188;NG_011217 RPL37_1_4 pseudo HGNC:35688 INFERRED 1603842 RPL37P6 ribosomal protein L37 pseudogene 6 INTERACTS WITH hydralazine; valproic acid 8 8 8 q12.1 53491747 53492136 + 57500951 57501340 + 56588392 56588781 + 6480464 19123937 346950 ABBA01041773;AC013644;AMYH02018020;NG_005971 RPL37_5_905 pseudo HGNC:31080 INFERRED 1345580 RPL38P1 ribosomal protein L38 pseudogene 1 3 3 3 q24 146824084 146824377 - 148413742 148414035 - 148695955 148696248 - 19123937;8166699;8185574;9375793 116809 ABBA01058952;AC024897;AF245699;AMYH02007877;NG_000963;NG_008468;S70431;U07144 2144495 RH11116 RPL38_1_417 pseudo HGNC:17093 INFERRED 2304614 RPL38P2 ribosomal protein L38 pseudogene 2 2 2 2 p12 77848752 77849096 + 78019877 78020221 + 77792751 77793095 + 19123937 100129991 ABBA01075648;AC105399;AMYH02004114;NG_011032 RPL38_1_244 pseudo HGNC:36620 INFERRED 2304612 RPL38P3 ribosomal protein L38 pseudogene 3 4 4 4 q12 53344204 53344486 - 55842282 55842564 - 54976115 54976397 - 19123937 100132311 ABBA01003405;AC111194;AMYH02009239;NG_011115 RPL38_2_479 pseudo HGNC:35980 INFERRED 7247046 RPL38P4 ribosomal protein L38 pseudogene 4 3 3 3 q11.2 96635534 96635813 - 98243860 98244193 - 98525016 98525349 - 100130963 ABBA01026929;AC021660;AMYH02007287;NG_010776 pseudo HGNC:48867 INFERRED 1313682 RPL38 ribosomal protein L38 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L38E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the type 1 angiotensin II receptor gene. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 68786341 68792564 + 72199795 72206019 + 74203656 74209880 + 6480464 11401437;11875025;12477932;12962325;14567916;15189156;15489334;16712791;16730941;17353931;17361185;17643375;19167051;19738201;20434207;20972266;21139048;21145461;21853274;21890473;21906983;21963094;21988832;22505724;22586326;22623428;22863883;22939629;23000965;23246001;23398456;23443559;24337577;24457600;8722009;9375793;9582194 6169 J3KSP2;J3KT73;J3QL01;P63173 AB007185;AB055771;ABBA01028846;AC100786;AK312119;AMYH02033974;BC000603;BQ276548;BU532782;CB124619;CB128529;CH471099;NM_000999;NM_001035258;Z26876 AAH00603;BAA25844;BAB62865;BAG35055;CAA81488;EAW89137;EAW89138;EAW89139;EAW89140;NP_000990;NP_001030335;P63173 Hs.380953 1848526;5014869;5015743 D19S983;RP_L38_1;WI-9698 L38 60S ribosomal protein L38;OTTHUMP00000231708;OTTHUMP00000231709;OTTHUMP00000231710 APPROVED protein-coding ENSG00000172809 HGNC:10349 16048 604182 REVIEWED 1342999 RPL39P ribosomal protein L39 pseudogene 20 20 20 q13.2 51774719 51775116 - 55034291 55034688 - 56459235 56459632 - 19123937 140719 ABBA01052893;AL121914;AMYH02037339;NG_000990 2176599 STS-R85320 RPL39_20_1715;dJ1167H4.5 pseudo HGNC:16558 INFERRED 1347635 RPL39L ribosomal protein L39-like This gene encodes a protein sharing high sequence similarity with ribosomal protein L39. Although the name of this gene has been referred to as 'ribosomal protein L39' in the public databases, its official name is 'ribosomal protein L39-like'. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008] 3 3 3 q27 185270573 185289095 - 186838741 186857263 - 187120953 187139475 - 1580863;6480464 12359333;12477932;12490704;15489334;17207965;23602568;24816145 116832 Q96EH5 AB063607;AB063610;ABBA01058377;AC007488;AF548529;AMYH02008358;BC012328;CH471052;L05096;NM_052969 AAC15859;AAH12328;AAN52397;ADQ32401;BAC19834;BAC19837;EAW78156;NP_443201;Q96EH5 Hs.647900 1792264;2177332;5019222 DXS8214;PMC140079P4;UniSTS:64548 L39-2;RPL39L1 60S ribosomal protein L39-2;60S ribosomal protein L39-like;OTTHUMP00000209938;OTTHUMP00000209939;OTTHUMP00000209940;ribosomal protein L39-like 1;ribosomal protein L39-like protein APPROVED protein-coding ENSG00000163923 HGNC:17094 09610 607547 REVIEWED 2304616 RPL39P10 ribosomal protein L39 pseudogene 10 1 1 1 q43 212470239 212470626 - 239215871 239216252 - 239052571 239052952 - 6480464 19123937 100129952 ABBA01033213;AL590135;AMYH02003004;NG_010843 RPL39_4_182 pseudo HGNC:35745 INFERRED 2305750 RPL39P13 ribosomal protein L39 pseudogene 13 1 1 1 p22.1 90312344 90312735 + 92065669 92066061 + 91600112 91600504 + 6480464 19123937 100130802 ABBA01045565;AL714022;AMYH02001465;NG_011255 RPL39_3_72 pseudo HGNC:36705 INFERRED 2305446 RPL39P12 ribosomal protein L39 pseudogene 12 1 1 1 p36.33 1646639 1646794 + 943454 943609 - 1008074 1008229 - 19123937 100270829 ABBA01016008;AL645608;AMYH02000073;NG_011226 RPL39_1_3 pseudo HGNC:36166 INFERRED 2305192 RPL39P11 ribosomal protein L39 pseudogene 11 1 1 1 q25 152348516 152348666 - 179240251 179240401 - 179271116 179271266 - 19123937 100271022 ABBA01027817;AL512326;AMYH02002230;NG_010901 RPL39_3_134 pseudo HGNC:36798 INFERRED 1346315 RPL37P4 ribosomal protein L37 pseudogene 4 21 21 21 q21.1 6135466 6136030 + 20966021 20966585 + 19593707 19594271 + 10830953;19123937 378819 ABBA01057147;AMYH02037581;AP000403;AP001676;NG_005973 RL37P2;RPL37_10_1721 pseudo HGNC:17239 INFERRED 2304845 RPL39P14 ribosomal protein L39 pseudogene 14 2 2 2 q33.1 196848163 196848555 + 203096371 203096763 + 202231648 202232040 + 19123937 100132127 ABBA01062554;AC079354;AMYH02005558;NG_010167;NG_011679 RPL39_6_311 pseudo HGNC:36609 INFERRED 735612 RPL39 ribosomal protein L39 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the S39E family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein is the smallest, and one of the most basic, proteins of the ribosome. This gene is co-transcribed with the U69 small nucleolar RNA gene, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] X X X q24 119375089 119380226 - 118920467 118925622 - 119786504 119791659 - 6480464 11401437;11875025;12477932;12860195;12962325;14567916;15189156;15489334;19123937;21890473;22863883;24816145;24876273;7821789;8722009;8764829;8908372 6170 P62891 AB046411;AB061835;ABBA01036625;AC005052;AMYH02040344;BC001019;BC070205;BX476041;CH471161;D28397;D79205;NG_016250;NM_001000;U57846 AAB02265;AAH01019;AAH70205;ABM82814;ABM86000;BAA05763;BAA11465;BAB21257;BAB79473;EAW89847;EAW89848;EAW89849;NP_000991;P62891 Hs.300141;Hs.558387 1792262;5019222;5113057 DXS8214;PMC140079P3;RH80068 L39;RPL39P42;RPL39_23_1806 60S ribosomal protein L39;OTTHUMP00000023908 APPROVED protein-coding ENSG00000198918 HGNC:10350 03546 300899 REVIEWED 2305190 RPL39P17 ribosomal protein L39 pseudogene 17 3 3 3 p25.1 13032549 13032957 - 13094274 13094682 - 13052774 13053182 - 19123937 100271024 ABBA01025186;AC069271;AMYH02006304;NG_010914 1792262 PMC140079P3 RPL39_6_343 pseudo HGNC:35545 INFERRED 2305189 RPL39P18 ribosomal protein L39 pseudogene 18 3 3 3 p24.3 19994424 19994822 + 20053895 20054293 + 20012403 20012801 + 19123937 100271025 ABBA01025091;AC097635;AMYH02006363;NG_010919 1664635 SHGC-76753 RPL39_7_347 pseudo HGNC:36111 INFERRED 2304981 RPL39P15 ribosomal protein L39 pseudogene 15 2 2 2 p13.3 70331500 70331877 - 70480810 70481187 - 70253678 70254055 - 19123937 647236 ABBA01075531;AC016700;AMYH02004038;NG_009585 RPL39_5_239 pseudo HGNC:35856 INFERRED 2305191 RPL39P16 ribosomal protein L39 pseudogene 16 2 2 2 q13 103804708 103804863 + 109494764 109494919 + 108878308 108878463 + 19123937 100271023 ABBA01000765;AC073415;AMYH02004514;NG_010908 2132738 RH70637 RPL39_5_258 pseudo HGNC:35912 INFERRED 2305188 RPL39P19 ribosomal protein L39 pseudogene 19 3 3 3 q27 185270574 185270969 - 186838742 186839137 - 187120954 187121349 - 19123937 100271027 ABBA01058377;AC007488;AMYH02008358;NG_010926 1792264;2177332 PMC140079P4;UniSTS:64548 RPL39_8_448 pseudo HGNC:36346 INFERRED 1344131 RPL39P2 ribosomal protein L39 pseudogene 2 14 14 14 q11.2 3561679 3562043 - 23698977 23699341 - 23229768 23230132 - 19123937 326306 ABBA01061317;AL049829;AMYH02028867;NG_002558 RPL39_16_1342 pseudo HGNC:19774 INFERRED 2305642 RPL39P20 ribosomal protein L39 pseudogene 20 5 5 5 q14.1 75512760 75513156 + 79611441 79611837 + 80315622 80316018 + 6480464 19123937 100131160 ABBA01062033;AC026410;AMYH02011662;NG_010462;NG_030332 RPL39_10_584 pseudo HGNC:36366 INFERRED 2305473 RPL39P21 ribosomal protein L39 pseudogene 21 5 5 5 q13.3 70121847 70122249 + 74227433 74227835 + 74931608 74932010 + 19123937 644499 ABBA01061940;AC116337;AMYH02011580;NG_010774 RPL39_9_576 pseudo HGNC:36218 INFERRED 2304960 RPL39P23 ribosomal protein L39 pseudogene 23 7 7 7 p12-p11.2 50976262 50976409 - 50911282 50911429 - 50843585 50843732 - 19123937;9847074 100271203 ABBA01011806;AC004920;AC009296;AMYH02015698;CH236955;NG_010511 1724653 RH121327 RPL39_10_809 pseudo HGNC:36581 INFERRED 2305187 RPL39P22 ribosomal protein L39 pseudogene 22 5 5 5 p13 36475534 36475689 + 36588608 36588763 + 36588506 36588661 + 19123937 100271028 ABBA01024174;AC010631;AMYH02011166;NG_010931 RPL39_8_554 pseudo HGNC:36072 INFERRED 2304586 RPL39P25 ribosomal protein L39 pseudogene 25 10 10 10 q22.2 70317405 70317558 - 77029150 77029303 - 75269392 75269545 - 19123937 100271517 ABBA01020260;AC010997;AMYH02023363;NG_010826 RPL39_11_1067 pseudo HGNC:37002 INFERRED 2304585 RPL39P26 ribosomal protein L39 pseudogene 26 11 11 11 p15.2 13832787 13832943 - 13707046 13707202 - 13685499 13685655 - 19123937 100271518 ABBA01061121;AC013828;AMYH02024350;NG_010831 RPL39_12_1121 pseudo HGNC:35900 INFERRED 2304757 RPL39P24 ribosomal protein L39 pseudogene 24 9 9 9 q34.13 106379587 106379904 + 135837840 135838158 + 132962453 132962771 + 19123937 100271396 ABBA01032477;AL593851;AMYH02021820;NG_010191;NG_034227 RPL39_11_1016 pseudo HGNC:36431 INFERRED 2305747 RPL39P27 ribosomal protein L39 pseudogene 27 12 12 12 p12.1 30709151 30709322 - 25562208 25562379 - 25409274 25409445 - 6480464 19123937 100133222 ABBA01068020;AC092451;AMYH02026224;NG_010530 RPL39_13_1220 pseudo HGNC:36114 INFERRED 2304581 RPL39P29 ribosomal protein L39 pseudogene 29 13 13 13 q34 83757652 83758060 - 102915195 102915603 - 102262845 102263253 - 19123937 100271522 ABBA01027075;AL356266;AMYH02028623;NG_010848 RPL39_15_1333 pseudo HGNC:35808 INFERRED 2304584 RPL39P30 ribosomal protein L39 pseudogene 30 16 16 16 q24.2 71598417 71598821 + 87301737 87302141 + 87268131 87268535 + 19123937 100271519 ABBA01034326;AC010531;AMYH02032613;NG_010837 RPL39_12_1504 pseudo HGNC:36979 INFERRED 2304583 RPL39P28 ribosomal protein L39 pseudogene 28 12 12 12 q15 68059208 68059362 - 68395174 68395328 - 68001394 68001548 - 19123937 100271520 ABBA01026561;AC005294;AMYH02026693;NG_010840 RPL39_14_1253 pseudo HGNC:35619 INFERRED 1352723 RPL39P3 ribosomal protein L39 pseudogene 3 6 6 6 q13 74477201 74477584 - 74082653 74083036 - 73372930 73373313 - 11181995;19123937;9847074 285785 ABBA01040314;AC019205;AMYH02013908;CH471051;NG_003156 EAW48771 1792262;1834282;1838552;1923498;1923500;1923502;1923504;1923506;1923508;1923510;1923512;1923514;1923516;1923518;2207246;2207248 ECD18289;ECD20450;PMC140079P3;REN32573;REN32574;REN32575;REN32576;REN32577;REN32578;REN32579;REN32580;REN32581;REN32582;REN32583;stSG625851;stSG625852 RPL39_9_712 pseudo HGNC:21383 INFERRED 2304578 RPL39P31 ribosomal protein L39 pseudogene 31 16 16 16 q22 56339159 56339313 - 72025050 72025204 - 71991151 71991305 - 19123937 100271525 ABBA01016796;AC009127;AMYH02032333;NG_010862;NG_032958 RPL39_17_1495 pseudo HGNC:36488 INFERRED 2305562 RPL39P32 ribosomal protein L39 pseudogene 32 17 17 17 q12 30803605 30804011 + 33893479 33893885 + 35566460 35566866 + 6480464 19123937 100131387 ABBA01011230;AC015911;AMYH02033350;NG_010314 RPL39_13_1539 pseudo HGNC:36959 INFERRED 2304582 RPL39P33 ribosomal protein L39 pseudogene 33 17 17 17 q22 51112108 51112260 + 54650404 54650556 + 56573043 56573195 + 19123937 100271521 ABBA01041303;AC015724;AMYH02033662;NG_010845 RPL39_14_1560 pseudo HGNC:36315 INFERRED 2304579 RPL39P35 ribosomal protein L39 pseudogene 35 19 19 19 q13.41 50930817 50931133 + 53889433 53889833 + 53386180 53386580 + 19123937 100271524 ABBA01068216;AC125388;AMYH02036424;NG_010856 1686576;2114974 RH76350;SHGC-37292 RPL39_16_1667 pseudo HGNC:35815 INFERRED 2304580 RPL39P34 ribosomal protein L39 pseudogene 34 19 19 19 q13.3 50118183 50118338 + 53067329 53067484 + 52564076 52564231 + 19123937 100271523 ABBA01068248;AC022150;AMYH02036403;NG_010853 RPL39_15_1666 pseudo HGNC:36528 INFERRED 2304577 RPL39P36 ribosomal protein L39 pseudogene 36 19 19 19 q13.41 50957832 50957984 + 53916446 53916598 + 53413193 53413345 + 19123937 100271526 ABBA01068216;AC022137;AMYH02036425;NG_010865 RPL39_17_1668 pseudo HGNC:36076 INFERRED 2304575 RPL39P38 ribosomal protein L39 pseudogene 38 19 19 19 p13.1 18297726 18298105 - 18395976 18396355 - 18285166 18285545 - 19123937 100271529 ABBA01051256;AC008397;AMYH02035730;NG_010881 RPL39_19_1635 pseudo HGNC:36935 INFERRED 2304574 RPL39P39 ribosomal protein L39 pseudogene 39 20 20 20 q13.31 52643846 52643989 + 55903609 55903752 + 57328553 57328696 + 19123937 100271530 ABBA01052923;AL135939;AMYH02037352;NG_010887 RPL39_19_1716 pseudo HGNC:36514 INFERRED 2304576 RPL39P37 ribosomal protein L39 pseudogene 37 19 19 19 q13.41 51040587 51040737 + 53999141 53999291 + 53495887 53496037 + 19123937 100271528 ABBA01068214;AC022137;AMYH02036425;NG_010875 RPL39_18_1669 pseudo HGNC:36282 INFERRED 2303442 RPL39P4 ribosomal protein L39 pseudogene 4 17 17 17 q21.1 34655664 34656062 - 37995428 37995826 - 39839175 39839573 - 19123937 654392 ABBA01031852;AC090844;AMYH02033388;NG_009535;NG_029104 RPL39_18_1545 pseudo HGNC:31327 INFERRED 2304573 RPL39P40 ribosomal protein L39 pseudogene 40 21 21 21 q21.1 4047764 4047883 - 18872997 18873116 - 17500679 17500798 - 19123937 100271531 ABBA01057118;AMYH02037559;AP000963;NG_010891 RPL39_21_1719 pseudo HGNC:35823 INFERRED 2304572 RPL39P41 ribosomal protein L39 pseudogene 41 22 22 22 q13.1 21412819 21412970 - 37611778 37611929 - 37215738 37215889 - 19123937 100271532 ABBA01055461;AMYH02038330;NG_010896;Z82188 RPL39_22_1750 pseudo HGNC:35941 INFERRED 2304756 RPL39P42 ribosomal protein L39 pseudogene 42 X X q24 119378484 119378594 - 118923864 118923974 - 19123937 100271397 ABBA01036625;AC005052;AMYH01022886;NG_016250 RPL39_23_1806 pseudo HGNC:36204 MODEL 2304151 RPL39P5 ribosomal protein L39 pseudogene 5 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN ribosome (inferred) 3 3 3 q22.1 132496856 132497260 - 134070581 134070985 - 134351739 134352143 - 19123937;21145461;24816145 553117 Q59GN2 AB209077;ABBA01059156;AC010207;AMYH02007720;NG_010827 Q59GN2 Hs.611241 RPL39_7_406 pseudo HGNC:26015 INFERRED 2305388 RPL39P7 ribosomal protein L39 pseudogene 7 1 1 1 p36.11 24611563 24611685 + 26215478 26215600 + 25888987 25889109 + 19123937 100270892 ABBA01034887;AL033528;AMYH02000549;NG_010238 RPL39_2_23 pseudo HGNC:36651 INFERRED 2305389 RPL39P6 ribosomal protein L39 pseudogene 6 1 1 1 p36.2 10405299 10405699 + 11292967 11293367 + 11232910 11233310 + 19123937 100270891 ABBA01003045;AL049653;AMYH02000286;NG_010231;NG_033239 RPL39_1_12 pseudo HGNC:35803 INFERRED 2305386 RPL39P9 ribosomal protein L39 pseudogene 9 1 1 1 p21 98563046 98563198 + 100308166 100308318 + 99842610 99842762 + 19123937 100270894 ABBA01045448;AC096949;AMYH02001550;NG_010246 RPL39_4_77 pseudo HGNC:35580 INFERRED 2305387 RPL39P8 ribosomal protein L39 pseudogene 8 1 1 1 p13.2 111662063 111662442 - 113433214 113433593 - 112890592 112890971 - 19123937 100270893 ABBA01068435;AL390729;AMYH02001752;NG_010241 RPL39_2_85 pseudo HGNC:36329 INFERRED 1344273 RPL3P1 ribosomal protein L3 pseudogene 1 21 21 21 q22.2 22739919 22741204 - 37541219 37542504 - 36168921 36170206 - 10830953;19123937;9740676 8488 ABBA01057384;AMYH02037775;AP000689;AP001725;NG_000877 RPL3P;RPL3_8_1731 pseudo HGNC:10352 INFERRED 2305537 RPL3P10 ribosomal protein L3 pseudogene 10 8 8 8 p11.22 37966548 37967808 - 39015001 39016238 - 39157482 39158719 - 19123937 100129004 ABBA01015931;AC105091;AMYH02017844;NG_011223 RPL3_5_896 pseudo HGNC:36819 INFERRED 2305214 RPL3P11 ribosomal protein L3 pseudogene 11 9 9 9 p23 13973408 13974638 - 14040656 14041886 - 14040657 14041887 - 19123937 100131893 ABBA01065306;AL360089;AMYH02019187;NG_010281 RPL3_7_963 pseudo HGNC:35521 INFERRED 1314865 RPL3L ribosomal protein L3-like This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2206784 2216862 - 1994580 2004679 - 1944579 1954678 - 1580863;6480464 11157797;12477932;12962325;14567916;15189156;15489334;19615732;19946888;21048031;21832049;21890473;21906983;21963094;22939629;23000965;8828041;8921388 6123 H3BQN3;Q92901 ABBA01030286;AC005363;AE006640;AK313162;AMYH02031241;BC050413;CH471112;NM_005061;U65581 AAC50777;AAH50413;AAK61301;BAG35980;EAW85599;NP_005052;Q92901 Hs.657266 1682343;2132575 D16S3395;RH93499 60S ribosomal protein L3-like;OTTHUMP00000158867 APPROVED protein-coding HGNC:10351 17998 REVIEWED 2303487 RPL3P3 ribosomal protein L3 pseudogene 3 14 14 14 q22.3 37494612 37495940 + 57445066 57446394 + 56978348 56979676 + 19123937 645798 ABBA01018235;AL137100;AMYH02029254;NG_009544 RPL3_2_1372 pseudo HGNC:23550 INFERRED 2305894 RPL3P5 ribosomal protein L3 pseudogene 5 2 2 2 q37.3 231029130 231030443 - 237316433 237317746 - 236407790 236409103 - 19123937 100130450 ABBA01042572;AC093915;AMYH02006054;NG_010767 RPL3_1_338 pseudo HGNC:36934 INFERRED 2305916 RPL3P6 ribosomal protein L3 pseudogene 6 5 5 q12.1 60686443 60687724 - 61390616 61391897 - 19123937 643220 ABBA01048374;AC122718;AMYH02011379;NG_010781 RPL3_2_568 pseudo HGNC:36395 INFERRED 1345719 RPL3P4 ribosomal protein L3 pseudogene 4 14 14 14 q32.2 79494922 79495400 - 99439160 99439638 - 98972823 98973301 - 326307 ABBA01048570;AL162151;AMYH02029827;NG_002559 1806162;1819544;1951990;1951992;1951994;1951996;1951998;1952000;1952002;1952004;1952006;1952008;2191741;2212008;2212010 ECD04035;ECD10839;MARC_6327-6328:996689678:1;REN46851;REN46852;REN46853;REN46854;REN46855;REN46856;REN46857;REN46858;REN46859;REN46860;stSG631937;stSG631938 pseudo HGNC:19805 INFERRED 2304632 RPL3P7 ribosomal protein L3 pseudogene 7 6 6 6 q21 109071993 109073285 - 108325506 108326798 - 108004302 108005594 - 19123937 642741 ABBA01026158;AMYH02014262;NG_010941;Z98200 1335035;1766751;1798758;1845970;1956346;1956348;1956350;1956352;1956354;1956356;1956358;1956360;1956362;1956364;1956366;1956368;2158857;2212680;2212682;2212684 D6S278;ECD00219;ECD24205;REN49036;REN49037;REN49040;REN49041;REN49042;REN49043;REN49044;REN49045;REN49046;REN49047;REN49048;REN49049;SGC33142;SHGC-152050;stSG634054;stSG634055;stSG634056 RPL3_3_732 pseudo HGNC:36797 INFERRED 2305567 RPL3P9 ribosomal protein L3 pseudogene 9 8 8 8 q21.13 76487539 76488795 - 80483330 80484585 - 79571095 79572350 - 19123937 100128963 ABBA01004076;AC025599;AMYH02018282;NG_011010 RPL3_6_918 pseudo HGNC:36839 INFERRED 2305546 RPL3P8 ribosomal protein L3 pseudogene 8 7 7 7 q31.1 104451064 104452331 - 109638436 109639703 - 109998379 109999646 - 19123937;9847074 646620 ABBA01057877;AC004161;AMYH02016552;CH236947;NG_009422 1337391;1684106;1755003;1757013;1764943;2182858 AFM248tc5;D7S1853;D7S525;SHGC-141951;SHGC-144372;SHGC-148496 RPL3_4_835 pseudo HGNC:35498 INFERRED 1342766 RPL41P2 ribosomal protein L41 pseudogene 2 15 15 15 q11-q13 6717845 6718263 + 28560799 28561217 + 28315653 28316071 + 22970 ABBA01044286;AC004583;AC091304;AC243660;NG_000890;NG_016355 pseudo HGNC:10357 INFERRED 1354165 RPL41P1 ribosomal protein L41 pseudogene 1 20 20 20 p11.23-p11.21 21809776 21810198 + 21735868 21736290 + 21755230 21755652 + 22971 ABBA01054109;AL035562;AMYH02036819;NG_000891 RPL41L2;dJ1065O2.1 pseudo HGNC:10356 INFERRED 736920 RPL41 ribosomal protein L41 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with the yeast ribosomal protein YL41, belongs to the L41E family of ribosomal proteins. It is located in the cytoplasm. The protein can interact with the beta subunit of protein kinase CKII and can stimulate the phosphorylation of DNA topoisomerase II-alpha by CKII. Two alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 12 12 12 q13 56162519 56163761 + 56510374 56511616 + 56116590 56117832 + 6480464 11401437;11710515;11780052;12477932;12962325;1326959;14567916;15189156;15489334;18482256;18624398;20098747;20234822;21706477;21779181;21832049;23602568;7821789;8722009;9299532;9582194;9891856 6171 P62945;Q76N52 AB007186;AB010874;ABBA01008405;AC034102;AF026844;AMYH02026562;BC014383;BC015984;BC017820;BC032611;BC062462;BC064907;BC066328;BC070252;BC070253;BC070254;BC070255;BC070483;BC082759;BC102007;BC102008;BC102009;BC105279;BC105286;BC105296;BC105794;BC105795;BC105799;BC142666;BC142726;BF673574;CH471054;D28462;NM_001035267;NM_021104;Z12962 AAB82715;AAI56366;AAI57113;BAA05828;BAA28285;BAA31508;CAA78306;EAW96886;EAW96887;NP_001030344;NP_066927;P62945 Hs.112553;Hs.157160;Hs.356799;Hs.485899;Hs.632703;Hs.658436;Hs.660053 1771706;2128149;2137395;5124807;5493487 D12S1978;RH46352;RP_L41_1;SHGC-12709;UniSTS:486805 L41 60S ribosomal protein L41;HG12 protein;OTTHUMP00000243145;OTTHUMP00000243146;homologue of yeast ribosomal protein YL41 APPROVED protein-coding ENSG00000229117 HGNC:10354 17999 613315 REVIEWED 1354262 RPL41P3 ribosomal protein L41 pseudogene 3 22 22 22 q13.1 20036924 20037362 - 36234322 36234760 - 35838275 35838713 - 22969 ABBA01055427;AL079295;AMYH02038312;NG_000889;NG_029628 pseudo HGNC:10358 INFERRED 732803 RPL4 ribosomal protein L4 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 15 15 15 q22 43680858 43686530 - 66791653 66816870 - 66499315 66504855 - 1580863;6480464 10964612;11401437;11790298;11823430;11875025;12477932;12777385;12962325;14567916;14667819;14743216;15064750;15189156;15489334;15635413;16055720;16196087;16712791;17220478;17361185;17620599;18029348;18729074;18781797;18809582;19287380;19394292;19710015;19738201;19946888;20020773;20462248;20604807;20705598;21081666;21110914;21139048;21145461;21163940;21182205;21726808;21890473;21906983;21963094;21987572;21988832;22268729;22505724;22586326;22623428;22718819;22939629;22952844;22963397;23000965;23084401;23125841;23246001;23275563;23398456;23443559;23463506;24244333;24457600;24816145;25015289;25027693;7575549;8125298;8268230;8722009;9582194 6124 H3BM89;H3BTP7;H3BU31;P36578 AB007167;AB061820;AB208977;ABBA01038819;AC116913;AK125772;AK130784;AK223057;AK291117;AK291859;AK294113;AK297484;AMYH02030649;BC001365;BC005817;BC007748;BC007996;BC009888;BC010151;BC014653;BC018840;BC030000;BC040610;BC066925;BC095427;CA417911;CB149679;CH471082;D23660;L20868;NM_000968 AAA60281;AAH01365;AAH05817;AAH07748;AAH07996;AAH09888;AAH10151;AAH14653;AAH66925;AAH95427;ABM83115;ABM86309;BAA04887;BAB79458;BAD92214;BAD96777;BAF83806;BAF84548;BAG57447;BAG59904;EAW77773;EAW77774;EAW77775;EAW77776;NP_000959;P36578 Hs.186350;Hs.644628 1744317;2138203;2155777;2155779;5016660;5016779;5024471;5124870 D14S106E;D15S1201;GDB:451670;RH65253;RH65816;RH68287;RP_L4_2;SHGC-18 L4 60S ribosomal protein L1;60S ribosomal protein L4;OTTHUMP00000164249 APPROVED protein-coding HGNC:10353 01607 180479 REVIEWED 1352938 RPL3P2 ribosomal protein L3 pseudogene 2 6 6 6 p21.3 32846778 32848018 + 31248068 31249348 + 31280291 31281571 + 19123937;9177776 116935 ABBA01038073;AL662833;AL671883;AL845443;AMYH02013447;BX248310;BX927178;CR388229;CR759814;CR759828;D83770;NG_029347 1856368;1956354;2191741 G07414;MARC_6327-6328:996689678:1;REN49042 RPL3-Hom;RPL3_1_679 pseudo HGNC:17834 INFERRED 1342751 RPL41P4 ribosomal protein L41 pseudogene 4 14 14 14 q24.3 54507008 54507436 + 74470056 74470484 + 74003353 74003781 + 9847074 326308 ABBA01030737;AC005480;AMYH02029504;NG_002560 pseudo HGNC:19788 INFERRED 1351074 RPL41P5 ribosomal protein L41 pseudogene 5 12 12 12 q22 93148110 93148533 - 93477069 93477492 - 93083293 93083716 - 8332507 6172 ABBA01053385;AC138123;AMYH02026940;NG_008264;S64030 RPL41L pseudo HGNC:10355 INFERRED 2305563 RPL3P12 ribosomal protein L3 pseudogene 12 X X X q25 122053224 122054508 + 121672085 121673369 + 122538232 122539516 + 19123937 100131358 ABBA01036245;AL513082;AMYH02040388;NG_010160 RPL3_3_1807 pseudo HGNC:36298 INFERRED 2881919 RPL41P6 ribosomal protein L41 pseudogene 6 There are two copies of this pseudogene on chromosome Y within the P1 palindrome. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y q11.23 27453807 27454349 + 25307660 25308202 + 12815422 286568 AC006386;NG_004755 APPROVED pseudo HGNC:37655 REVIEWED 2881920 RPL41P7 ribosomal protein L41 pseudogene 7 There are two copies of this pseudogene on chromosome Y within the P1 palindrome. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y q11.23 26508083 26508625 - 24361936 24362478 - 12815422 286570 AC012005;NG_004755 APPROVED pseudo HGNC:37656 REVIEWED 2303466 RPL4P1 ribosomal protein L4 pseudogene 1 14 14 14 q11.2 2082036 2083454 + 22218496 22219914 + 21750212 21751630 + 10810226;11096259;19123937;2129796;2788889;2939461;3016457;6440030;8188290;9110172;9850858 650808 ABBA01061266;AC243972;AE000521;NG_001332 RPL4_2_1340 pseudo HGNC:23551 VALIDATED 2304369 RPL4P3 ribosomal protein L4 pseudogene 3 1 1 1 q24.3 144761607 144763033 - 171652206 171653632 - 171683066 171684492 - 19123937 391135 ABBA01027925;AMYH02002142;NG_011155;Z98751 RPL4_1_122 pseudo HGNC:35773 INFERRED 2305184 RPL4P6 ribosomal protein L4 pseudogene 6 22 22 22 q13.2 24786297 24787695 - 40982629 40984027 - 40586625 40588023 - 19123937 100271033 ABBA01055606;AMYH02038409;NG_010955;Z86090 RPL4_4_1752 pseudo HGNC:35611 INFERRED 2304980 RPL4P4 ribosomal protein L4 pseudogene 4 3 3 3 q27.2 183581409 183582835 - 185135196 185136631 - 185417408 185418843 - 19123937 647276 ABBA01058419;AC099661;AMYH02008325;NG_010560 1744317;2138203 GDB:451670;RH65816 RPL4_2_444 pseudo HGNC:36179 INFERRED 2305844 RPL5P10 ribosomal protein L5 pseudogene 10 3 3 3 p22.1 40566770 40567768 - 40627977 40628975 - 40586486 40587484 - 19123937 645807 ABBA01024789;AC122683;AMYH02006598;NG_009583 RPL5_4_365 pseudo HGNC:36846 INFERRED 2305366 RPL5P11 ribosomal protein L5 pseudogene 11 4 4 4 q34.1 171665446 171666469 - 174340338 174341361 - 173419187 173420210 - 19123937 402193 ABBA01070376;AC093849;AMYH02010516;NG_010069 RPL5_6_536 pseudo HGNC:35483 INFERRED 2305443 RPL5P13 ribosomal protein L5 pseudogene 13 4 4 4 q31.21 140538724 140539432 - 143208070 143208778 - 142286917 142287625 - 19123937 100270834 ABBA01069992;AC093860;AMYH02010225;NG_011247 RPL5_5_523 pseudo HGNC:37023 INFERRED 2305441 RPL5P15 ribosomal protein L5 pseudogene 15 5 5 5 q13 55058763 55059500 + 58118330 58119067 + 58822503 58823240 + 19123937 100270836 ABBA01015790;AC008852;AMYH02011353;NG_011262 RPL5_6_566 pseudo HGNC:36769 INFERRED 2305442 RPL5P14 ribosomal protein L5 pseudogene 14 5 5 5 p13.3 31727558 31728545 + 31847336 31848323 + 31847230 31848217 + 19123937 100270835 ABBA01066724;AC010469;AMYH02011116;NG_011256;NG_033962 RPL5_5_550 pseudo HGNC:35924 INFERRED 2305541 RPL4P2 ribosomal protein L4 pseudogene 2 1 1 1 q24.1 139821713 139823138 + 166716560 166717986 + 166747323 166748749 + 19123937 646688 ABBA01047258;AL356005;AMYH02002078;NG_010174 RPL4_1_115 pseudo HGNC:36836 INFERRED 2305440 RPL5P16 ribosomal protein L5 pseudogene 16 5 5 5 q14.2 77978654 77979450 + 82073616 82074412 + 82777797 82778593 + 19123937 100270837 ABBA01062077;AC008885;AMYH02011704;NG_011269 RPL5_7_588 pseudo HGNC:36009 INFERRED 1342859 RPL5P1 ribosomal protein L5 pseudogene 1 15 15 15 q11.2 3316079 3317115 - 25154011 25155047 - 24908864 24909900 - 19123937 647436 ABBA01048688;AC090602;AMYH02030093;NG_002690 RPL5_12_1419 pseudo HGNC:10361 VALIDATED 2305438 RPL5P17 ribosomal protein L5 pseudogene 17 5 5 5 q14.3 80656938 80657951 + 84760177 84761190 + 85464359 85465372 + 19123937 100270839 ABBA01062100;AC010486;AMYH02011731;NG_011278 RPL5_8_591 pseudo HGNC:36605 INFERRED 2305706 RPL5P18 ribosomal protein L5 pseudogene 18 6 6 6 q22.33 128425895 128426866 + 127683631 127684602 + 127362486 127363457 + 19123937 389428 ABBA01025934;AL109939;AMYH02014447;NG_010276 RPL5_11_750 pseudo HGNC:36640 INFERRED 2305322 RPL5P19 ribosomal protein L5 pseudogene 19 6 6 6 q15 93144665 93145469 + 92723552 92724356 + 92013834 92014638 + 19123937 100270906 ABBA01040569;AL590814;AMYH02014117;NG_010305 RPL5_10_724 pseudo HGNC:36604 INFERRED 1353947 RPL5P2 ribosomal protein L5 pseudogene 2 20 20 20 q12 40827969 40828822 - 44119458 44120311 - 45490818 45491671 - 19123937 140749 ABBA01052660;AL031663;AMYH02037151;NG_000992 RPL5_14_1705;dJ461P17.5 pseudo HGNC:16568 INFERRED 2305096 RPL5P20 ribosomal protein L5 pseudogene 20 6 6 6 p22.3 20586724 20587733 + 19348341 19349350 + 19348110 19349119 + 19123937 100131913 ABBA01022243;AL357052;AMYH02013237;NG_010394 2190393 HSC235_(EPM2B-4) RPL5_9_664 pseudo HGNC:36660 INFERRED 2305439 RPL5P21 ribosomal protein L5 pseudogene 21 6 6 6 q22.33 130823865 130824644 - 130077478 130078257 - 129756333 129757112 - 19123937 100270838 ABBA01025909;AMYH02014471;NG_011273;Z97352 RPL5_7_753 pseudo HGNC:37029 INFERRED 2305444 RPL5P12 ribosomal protein L5 pseudogene 12 4 4 4 q23 96241194 96242178 + 98946491 98947475 + 98025340 98026324 + 19123937 100270833 ABBA01063650;AC073855;AMYH02009783;NG_011243 RPL5_4_502 pseudo HGNC:36221 INFERRED 2305632 RPL5P22 ribosomal protein L5 pseudogene 22 8 8 8 p21.1 27116969 27117992 + 28157125 28158148 + 28299608 28300631 + 19123937 389644 ABBA01005597;AC021678;AMYH02017683;NG_011351 1649463 D8S2029 RPL5_12_886 pseudo HGNC:35695 INFERRED 2305437 RPL5P23 ribosomal protein L5 pseudogene 23 8 8 8 p12 41143929 41144903 - 42199227 42200201 - 42341709 42342683 - 19123937 100270840 ABBA01021153;AC083973;AMYH02017891;NG_011285 RPL5_8_899 pseudo HGNC:36553 INFERRED 2305436 RPL5P24 ribosomal protein L5 pseudogene 24 8 8 8 q22.3 100122606 100123622 - 103935541 103936557 - 102923313 102924329 - 19123937 100270841 ABBA01037627;AMYH02018540;AP003354;NG_011288 RPL5_9_935 pseudo HGNC:35828 INFERRED 2304377 RPL4P5 ribosomal protein L4 pseudogene 5 9 9 9 p24.1 7407382 7408807 - 7476951 7478376 - 7476951 7478376 - 16169070;19123937 158345 ABBA01065374;AL391872;AMYH02019112;NG_010714 RPL4_3_960 pseudo HGNC:35699 INFERRED 2304959 RPL5P25 ribosomal protein L5 pseudogene 25 10 10 10 p13 13025646 13026481 - 13099890 13100725 - 13057890 13058725 - 19123937 100271204 ABBA01034635;AL355355;AMYH02022164;NG_010517 RPL5_10_1021 pseudo HGNC:35493 INFERRED 2304958 RPL5P26 ribosomal protein L5 pseudogene 26 10 10 10 q22 64815557 64816563 + 71538646 71539652 + 69778890 69779896 + 19123937 100271206 ABBA01019610;AC025426;AMYH02023273;NG_010525 RPL5_13_1059 pseudo HGNC:36247 INFERRED 2304613 RPL5P27 ribosomal protein L5 pseudogene 27 10 10 10 q25.3 112238851 112240319 + 118509375 118510843 + 116749864 116751332 + 19123937 100129998 ABBA01062954;AC016825;AMYH02023875;NG_011070 RPL5_14_1100 pseudo HGNC:36172 INFERRED 2305377 RPL5P29 ribosomal protein L5 pseudogene 29 INTERACTS WITH 17beta-estradiol; 5-azacytidine; bucladesine 11 11 11 q12.1 53464827 53465840 + 56124749 56125762 + 56357273 56358286 + 6480464 19123937 390158 ABBA01021463;AC022882;AC208786;AMYH02024832;NG_010050 RPL5_15_1144 pseudo HGNC:36335 INFERRED 2305493 RPL5P28 ribosomal protein L5 pseudogene 28 10 10 10 q26.3 128558655 128560498 + 134957011 134958854 - 133143507 133145350 - 19123937 100131535 ABBA01006204;AL445199;AMYH02024084;NG_011076 RPL5_11_1110 pseudo HGNC:36827 INFERRED 2303319 RPL5P3 ribosomal protein L5 pseudogene 3 15 15 15 q23 48246254 48247281 - 71355377 71356404 - 71063038 71064065 - 19123937 400385 ABBA01038750;AC013752;AMYH02030724;NG_009504 HsT18216;RPL5_13_1449 pseudo HGNC:31034 INFERRED 2304630 RPL5P30 ribosomal protein L5 pseudogene 30 11 11 11 q23.3 115592126 115593147 + 118431332 118432353 + 118560617 118561638 + 19123937 645160 ABBA01039703;AMYH02025643;AP000941;NG_011357 1749757 SHGC-111513 RPL5_16_1181 pseudo HGNC:35837 INFERRED 2305712 RPL5P33 ribosomal protein L5 pseudogene 33 17 17 17 q21.33 45386612 45388331 + 48925295 48927014 + 50847934 50849653 + 19123937 100130929 ABBA01041248;AC091062;AMYH02033602;NG_010584 RPL5_18_1557 pseudo HGNC:36703 INFERRED 2305891 RPL5P34 ribosomal protein L5 pseudogene 34 22 22 22 q13.2 27082881 27083906 - 43172351 43173376 - 42776345 42777370 - 19123937 388907 ABBA01017925;AL049757;AMYH02038469;NG_010237 RPL5_15_1754 pseudo HGNC:36463 INFERRED 2304973 RPL5P35 ribosomal protein L5 pseudogene 35 22 22 22 q13.33 34072909 34074403 - 50151207 50152701 - 49757559 49759053 - 19123937 100129647 ABBA01031330;AL023802;AMYH02038583;NG_010574;Z98885 1644724;1670378 AL021677;WI-14811 RPL5_16_1760 pseudo HGNC:36967 INFERRED 731697 RPL5 ribosomal protein L5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18P family of ribosomal proteins. It is located in the cytoplasm. The protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The protein interacts specifically with the beta subunit of casein kinase II. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 1 1 1 p22.1 91551185 91561073 + 93297594 93307481 + 92832037 92841924 + 1580863;6480464;6484113;7240710;8554872;8699517 10094392;10491318;10766838;11410658;11447110;11710515;11751223;11790298;11824785;11875025;12054647;12477932;12777385;12938929;12962325;14567916;14612427;14667819;14702039;14743126;15189156;15231747;15308643;15314173;15314174;15469983;15635413;16196087;16263121;16648475;16710414;17110929;17116689;1712897;17242401;17361185;17373842;17660530;17681147;18274552;18426907;18560357;18650830;18697920;18781797;18809582;19061985;19191325;19375175;19506219;19525955;19710015;19738201;19773262;19834503;19946888;20020773;20087403;20301769;20368992;20378560;20434207;20547751;20554519;20562864;20881960;21045808;21081666;21097889;21110914;21139048;21145461;21182205;21399665;21846774;21890473;21900206;21906983;21925390;21963094;21987572;22053931;22113938;22145905;22178446;22234250;22262766;22268729;22505724;22586326;22623428;22689679;22779921;22939629;22944692;23000965;23125841;23169665;23246001;23263491;23398456;23438482;23443559;23463506;23478443;24061479;24250222;24639526;24816145;25015289;25027693;3279045;7649987;7772601;7935455;7937132;8049265;8125298;8626719;8722009;8806611;9042965;9465063;9582194;9687515;9738462 6125 A2RUM7;B3KTM6;P46777;Q5T7N0;R4GNJ2 AB055762;AB061848;AB208980;ABBA01045531;AF113210;AK092963;AK095815;AK222604;AK314720;AL162740;AMYH02001489;BC001882;BC012937;BC109370;BC132970;BC132972;BG756697;BU941919;CH471097;NG_011779;NG_033051;NM_000969;U14966;U76609 AAA85654;AAB18361;AAG39281;AAH01882;AAI09371;AAI32971;AAI32973;BAB62856;BAB79486;BAD92217;BAD96324;BAG37264;BAG53138;EAW73087;EAW73088;EAW73089;NP_000960;P46777 Hs.532359 1707184;1853666;1857859;5096281 Cda18a05;DXYS124Y;RH66440;SHGC-79177 DBA6;L5;MGC117339;MSTP030;PPP1R135 60S ribosomal protein L5;OTTHUMP00000012584 APPROVED protein-coding ENSG00000122406 HGNC:10360 04699 603634;612561 REVIEWED 2305678 RPL5P5 ribosomal protein L5 pseudogene 5 1 1 1 q25.3 158306575 158307604 - 185195879 185196904 - 185226747 185227772 - 19123937 730213 ABBA01027720;AL356273;AMYH02002308;NG_009600 RPL5_1_139 pseudo HGNC:35564 INFERRED 2305881 RPL5P4 ribosomal protein L5 pseudogene 4 1 1 1 p34.3 34090229 34091247 + 35816249 35817267 + 35350648 35351666 + 19123937 643343 ABBA01023343;AL356362;AMYH02000764;NG_009571 RPL5_1_31 pseudo HGNC:36095 INFERRED 2305507 RPL5P6 ribosomal protein L5 pseudogene 6 1 1 1 p22.2 89737592 89738584 + 91489432 91490424 + 91023875 91024867 + 19123937 646784 ABBA01045569;AL136109;AMYH02001458;NG_010665;NG_029760 RPL5_2_71 pseudo HGNC:35890 INFERRED 2305597 RPL5P7 ribosomal protein L5 pseudogene 7 2 2 2 q31.1 168349729 168350724 - 174736300 174737295 - 173871572 173872567 - 19123937 344178 ABBA01062177;AC106900;AMYH02005263;CH471058;NG_010588 EAX11157 RPL5_2_294 pseudo HGNC:36583 INFERRED 2305867 RPL5P8 ribosomal protein L5 pseudogene 8 2 2 2 q34 208913324 208914259 - 215145313 215146248 - 214280589 214281524 - 19123937 100130523 ABBA01062779;AC008279;AMYH02005728;NG_011133 RPL5_3_323 pseudo HGNC:36290 INFERRED 2305445 RPL5P9 ribosomal protein L5 pseudogene 9 2 2 2 q13 105375958 105376962 + 111725353 111726357 + 110967776 110968780 + 19123937 100270832 ABBA01001561;AC096591;AMYH02004567;NG_011239 RPL5_3_263 pseudo HGNC:36557 INFERRED 2304503 RPL6P10 ribosomal protein L6 pseudogene 10 4 4 4 q13.1 63898520 63899332 + 66439158 66440089 + 65573440 65574371 + 19123937 642828 ABBA01022878;AC115223;AMYH02009352;NG_010033 RPL6_9_488 pseudo HGNC:36575 INFERRED 2305364 RPL6P1 ribosomal protein L6 pseudogene 1 1 1 1 p34.1 44522267 44539176 + 46246931 46247630 + 45781259 45781958 + 19123937;19615732 440587 ABBA01050853;AL603882;AMYH02000940;NG_010027 RPL6_1_44 pseudo HGNC:35972 INFERRED 2305321 RPL6P12 ribosomal protein L6 pseudogene 12 4 4 4 q32.3-q33 167418850 167419746 + 170087405 170088297 + 169166254 169167146 + 19123937 100270907 ABBA01070337;AC096741;AMYH02010480;NG_010311 RPL6_11_535 pseudo HGNC:35681 INFERRED 2305655 RPL6P13 ribosomal protein L6 pseudogene 13 4 4 4 q21.3 85080765 85082033 + 87791318 87792586 + 86870165 86871433 + 19123937 643974 ABBA01063513;AC093827;AMYH02009661;NG_010698 RPL6_10_498 pseudo HGNC:36399 INFERRED 5133088 RPL5P31 ribosomal protein L5 pseudogene 31 13 13 13 q14.3 32784983 32785640 - 51735831 51736488 - 51161695 51162352 - 341674 ABBA01051045;AL157817;AMYH02028029;NG_009871 pseudo HGNC:42036 INFERRED 733694 RPL6 ribosomal protein L6 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6E family of ribosomal proteins. It is located in the cytoplasm. The protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and it has been suggested that the protein may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.1 112470140 112474589 - 112842994 112856647 - 112405190 112418843 - 1580863;6480464 10944468;11043511;11401437;11790298;11823430;12477932;12678981;12777385;12962325;14567916;14743216;15075319;15121898;15189156;15303970;15489334;15635413;16169070;16196087;17203973;17267499;17361185;17620599;18274552;18781797;19738201;19928837;19946888;20020773;20171175;20462248;20972266;21110914;21139048;21145461;21182205;21252943;21319273;21572416;21642993;21890473;21906983;21963094;21987572;21988832;22043320;22053931;22113938;22145905;22174317;22178446;22268729;22505724;22586326;22939629;22944692;23000965;23084401;23125841;23151878;23246001;23383273;23398456;23443559;23463506;24174547;24244333;24332808;24457600;24550385;24583282;24654937;25015289;25027693;6468376;7251593;7821789;8185817;8457378;8479925;8722009;9529352;9582194;9826564 6128 F8VR69;F8VU16;F8VWR1;F8VZ45;F8VZA3;Q02878;Q8TBK5;U3KQR5 AB042820;ABBA01019933;AC004086;AF261087;AK298117;AK299470;AK308469;AK311863;AMYH02027222;AY320410;BC004138;BC013863;BC020679;BC022444;BC031009;BC032299;BC070195;BC071912;BC104824;BC104826;BU940020;CH471054;D17554;D28388;NM_000970;NM_001024662;S71022;X69391;XM_005253920;XM_006719546;XM_006719547;XM_006719548;XM_006719549 AAB30819;AAF99680;AAH04138;AAH20679;AAH22444;AAH31009;AAH32299;AAH71912;AAI04825;AAI04827;AAP73810;BAA04491;BAA05754;BAB17292;BAG34804;BAG60400;BAG61435;CAA49188;EAW98004;EAW98005;EAW98006;EAW98007;EAW98008;EAW98009;EAW98010;NP_000961;NP_001019833;Q02878;XP_005253977;XP_006719609;XP_006719610;XP_006719611;XP_006719612 Hs.546283;Hs.744897 5122795 D12S1304 L6;SHUJUN-2;TAXREB107;TXREB1 60S ribosomal protein L6;DNA-binding protein TAXREB107;OTTHUMP00000241860;OTTHUMP00000241861;OTTHUMP00000241862;neoplasm-related protein C140;tax-responsive enhancer element-binding protein 107 APPROVED protein-coding ENSG00000089009 HGNC:10362 04745 603703 REVIEWED 2305765 RPL6P14 ribosomal protein L6 pseudogene 14 4 4 4 q24 103106557 103107402 - 105807267 105808112 - 104886110 104886955 - 19123937 391679 ABBA01063729;AC105918;AMYH02009839;NG_011328 RPL6_2_505 pseudo HGNC:35661 INFERRED 2305602 RPL6P17 ribosomal protein L6 pseudogene 17 6 6 6 p23 16342666 16343932 - 15103177 15104442 - 15102946 15104211 - 19123937 100131229 ABBA01022155;AL050335;AMYH02013159;NG_010828 RPL6_4_660 pseudo HGNC:36914 INFERRED 2305435 RPL6P15 ribosomal protein L6 pseudogene 15 5 5 5 q31.1 128636512 128637336 - 132507910 132508734 - 133172218 133173042 - 19123937 100270843 ABBA01068780;AC010307;AMYH02012226;NG_011297 RPL6_3_613 pseudo HGNC:36903 INFERRED 2305502 RPL6P16 ribosomal protein L6 pseudogene 16 4 4 4 q35.1 182504525 182505311 + 185175688 185176474 + 184254535 184255321 + 19123937 728365 ABBA01070512;AC079080;AMYH02010648;NG_011360 RPL6_12_538 pseudo HGNC:35674 INFERRED 2305218 RPL6P18 ribosomal protein L6 pseudogene 18 6 6 6 p22.3 24336555 24337473 + 23102887 23103805 + 23102659 23103577 + 19123937 100131805 ABBA01022308;AL591416;AMYH02013301;NG_011144 RPL6_13_667 pseudo HGNC:36911 INFERRED 2304957 RPL5P32 ribosomal protein L5 pseudogene 32 15 15 15 q13.1 6300643 6301623 + 28140806 28141786 + 27895660 27896640 + 19123937 100271207 ABBA01044302;AC079090;AMYH02030121;NG_010532 1764375 SHGC-147969 RPL5_17_1422 pseudo HGNC:36973 INFERRED 2305854 RPL6P2 ribosomal protein L6 pseudogene 2 1 1 1 p12 117992758 117993582 - 119761916 119762740 - 119219293 119220117 - 19123937 343495 ABBA01068512;AL359915;AMYH02001814;NG_011031 RPL6_1_93 pseudo HGNC:35964 INFERRED 2305615 RPL6P19 ribosomal protein L6 pseudogene 19 7 7 7 q33 132143832 132146744 + 137406714 137407632 + 137721968 137722886 + 19123937 646483 ABBA01001150;AC009245;AMYH02016850;CH236950;NG_010443 RPL6_14_853 pseudo HGNC:36754 INFERRED 2305823 RPL6P20 ribosomal protein L6 pseudogene 20 7 7 7 q11.21 57320976 57321903 - 63601871 63602798 - 64141493 64142420 - 19123937 285900 ABBA01027973;AC091685;AMYH02015848;NG_006618 RPL6_6_811 pseudo HGNC:36543 INFERRED 2305432 RPL6P21 ribosomal protein L6 pseudogene 21 7 7 7 p21.2 14089256 14090149 - 14110131 14111024 - 14070506 14071399 - 19123937 100270846 ABBA01056598;AC004909;AMYH02015266;CH236948;KF458384;NG_011317 RPL6_5_786 pseudo HGNC:35994 INFERRED 2304509 RPL6P22 ribosomal protein L6 pseudogene 22 8 8 8 p12 32666646 32667546 - 33716866 33717766 - 33859348 33860248 - 19123937 388460 ABBA01023600;AF279873;AMYH02017772;NG_010561 RPL6_7_890 pseudo HGNC:36220 INFERRED 2305183 RPL6P24 ribosomal protein L6 pseudogene 24 10 10 10 p13 13560540 13561465 - 13633425 13634350 - 13591425 13592350 - 19123937 100271034 ABBA01034625;AL157392;AMYH02022180;NG_010958 RPL6_8_1023 pseudo HGNC:36343 INFERRED 2305182 RPL6P26 ribosomal protein L6 pseudogene 26 17 17 17 q21.31 39507604 39508482 - 42797105 42797983 - 44719737 44720615 - 19123937 100271035 ABBA01028352;AC091152;AMYH02033495;NG_010962 2180872 D17S1188 RPL6_9_1550 pseudo HGNC:36152 INFERRED 2304414 RPL6P27 ribosomal protein L6 pseudogene 27 18 18 18 p11.31 6347412 6348349 - 6462091 6463028 - 6462092 6463029 - 19123937 645387 ABBA01049895;AMYH02034254;AP005202;NG_009652 RPL6_10_1582 pseudo HGNC:36133 INFERRED 2305595 RPL6P25 ribosomal protein L6 pseudogene 25 12 12 12 q21.31 83212445 83213364 + 83545090 83546011 + 83151311 83152232 + 19123937;23251661 401725 ABBA01053458;AC090680;AMYH02026856;NG_010323 RPL6_15_1263 pseudo HGNC:36840 INFERRED 2304956 RPL6P28 ribosomal protein L6 pseudogene 28 22 22 22 q13.31 29209382 29210261 + 45297451 45298330 + 44901571 44902450 + 19123937 100271208 ABBA01017850;AMYH02038507;NG_010536;Z83838 RPL6_16_1757 pseudo HGNC:36065 INFERRED 2305374 RPL6P29 ribosomal protein L6 pseudogene 29 X X X q21.33 98026546 98027460 + 97506660 97507574 + 98251662 98252576 + 19123937 392505 ABBA01064395;AL355805;AMYH02040033;NG_010304 RPL6_17_1796 pseudo HGNC:36382 INFERRED 2304363 RPL6P3 ribosomal protein L6 pseudogene 3 1 1 1 q43 215250773 215251691 + 241995211 241996129 + 241831909 241832827 + 19123937 391181 ABBA01033259;AL365366;AMYH02003040;NG_010044 FLJ16613;RPL6_2_187 pseudo HGNC:35925 INFERRED 2305857 RPL6P30 ribosomal protein L6 pseudogene 30 X X X p22.2 20335513 20336421 - 16216525 16217433 - 16198402 16199310 - 19123937 139452 ABBA01071392;AC078993;AMYH02038920;NG_010970 7184880 DXS43 RPL6_11_1767 pseudo HGNC:36171 INFERRED 2304741 RPL6P4 ribosomal protein L6 pseudogene 4 2 2 2 p25.1 11157411 11158314 + 11242249 11243152 + 11102123 11103026 + 19123937 645054 ABBA01015639;AC062028;AMYH02003279;NG_010981 RPL6_3_194 pseudo HGNC:36344 INFERRED 2305434 RPL6P5 ribosomal protein L6 pseudogene 5 2 2 2 q22.3 139807677 139808507 + 146094801 146095631 + 145337233 145338063 + 19123937 100270844 ABBA01028043;AC064865;AMYH02004925;NG_011303 RPL6_4_280 pseudo HGNC:36199 INFERRED 2305433 RPL6P6 ribosomal protein L6 pseudogene 6 2 2 2 q34 204720947 204721785 + 210952950 210953788 + 210088226 210089064 + 19123937 100270845 ABBA01062734;AC006994;AMYH02005680;NG_011311 RPL6_5_321 pseudo HGNC:36673 INFERRED 2305430 RPL6P7 ribosomal protein L6 pseudogene 7 3 3 3 q25.31 153795955 153796856 + 155375532 155376433 + 155657743 155658644 + 19123937 100270848 ABBA01058859;AC132006;AMYH02007958;NG_009953 RPL6_7_423 pseudo HGNC:35801 INFERRED 2305777 RPL6P8 ribosomal protein L6 pseudogene 8 3 3 3 q25.33 158719069 158725589 + 160297055 160303575 + 160579267 160585787 + 19123937 100133100 ABBA01058795;AC078868;AMYH02008023;NG_011224 RPL6_8_430 pseudo HGNC:37044 INFERRED 2305431 RPL6P9 ribosomal protein L6 pseudogene 9 3 3 3 q23 140723580 140724269 + 142300131 142300820 + 142581289 142581978 + 19123937 100270847 ABBA01059023;AC134509;AMYH02007821;NG_011322 RPL6_6_412 pseudo HGNC:36484 INFERRED 1606440 RPL7AP10 ribosomal protein L7a pseudogene 10 INTERACTS WITH benzo[a]pyrene 19 19 19 p12 21167356 21168225 - 21332392 21333261 - 21149589 21150458 - 6480464 19123937;8482538 161406 ABBA01051369;AC010620;AJ224082;AMYH02035799;NG_001317 RPL7AP3;RPL7AP68;RPL7A_31_1637;rpL7a pseudo HGNC:32433 INFERRED 1343812 RPL7AL1 ribosomal protein L7A-like 1, G1-phase expressed 8123253 6131 HGNC:10365 2303838 RPL7AP11 ribosomal protein L7a pseudogene 11 3 3 3 q13.33 119622725 119623601 + 121212934 121213810 + 121494087 121494963 + 6480464 19123937 728992 ABBA01016485;AC079841;AMYH02007524;NG_009397 RPL7A_5_397 pseudo HGNC:35242 INFERRED 1350931 RPL7 ribosomal protein L7 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30P family of ribosomal proteins. It contains an N-terminal basic region-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, suggesting that it plays a regulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantigen in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 8 8 8 q21.11 70200410 70203406 - 74202874 74205869 - 73290639 73294462 - 1580863;6480464 11790298;12401809;12477932;12704204;12777385;12962325;14567916;15047060;15161933;15189156;15489334;15592455;15635413;16169070;16196087;16263121;16541025;16797011;17203973;17258209;17361185;17620599;18274552;18457437;18697920;18781797;18809582;19287380;19596686;19615732;19725029;19738201;19805454;19928837;19946888;20020773;20308691;20379614;20391533;20828572;21081666;21139048;21145461;21182205;21319273;21509594;21853274;21890473;21900206;21906983;21963094;21987572;22178446;22412388;22505724;22586326;22939629;22944692;23000965;23080069;23084401;23125841;23151878;23246001;23266416;23398456;23438482;23443559;24244333;24332808;24457600;24583282;24639526;24816145;25015289;25027693;7750987;7862521;8125298;8360149;8441630;8722009;9268371;9582194 6129 A8MUD9;C9JIJ5;C9JZ88;P18124 ABBA01041964;AC111149;AK225246;AK225254;AK291119;AK313365;AMYH02018209;BC006095;BC008850;BC009599;BC070215;BC071671;BC071894;BC071895;BC087837;CH471068;CR456773;L16557;L16558;NM_000971;X52967;X57958;X57959;XM_006716463 AAA03081;AAH06095;AAH08850;AAH09599;AAH71671;AAH71894;AAH71895;AAH87837;BAF83808;BAG36165;CAA37139;CAA41026;CAA41027;CAG33054;EAW86999;EAW87000;NP_000962;P18124;XP_006716526 Hs.421257;Hs.571841 2162509;5021962 D8S1958;Rpl7 L7;MGC117326;humL7-1 60S ribosomal protein L7;OTTHUMP00000166002;OTTHUMP00000166003;OTTHUMP00000166004;OTTHUMP00000166005 APPROVED protein-coding ENSG00000147604 HGNC:10363 05004 604166 REVIEWED 1353108 RPL7AP13 ribosomal protein L7a pseudogene 13 20 20 20 p12.1 16739764 16740112 + 16664702 16665050 + 16684057 16684405 + 128748 ABBA01054016;AL135938;AMYH02036757;NG_000974 RPL7AL3;dJ348M17.1 pseudo HGNC:16565 INFERRED 1343860 RPL7AP14 ribosomal protein L7a pseudogene 14 20 20 20 q11.2 32780342 32781224 - 36073076 36073958 - 37444674 37445556 - 19123937 140756 ABBA01006620;AL133293;AMYH02037048;NG_000999 RPL7AL4;RPL7A_32_1700;dJ823N20.2 pseudo HGNC:16590 INFERRED 1346415 RPL7AP12 ribosomal protein L7a pseudogene 12 20 20 20 p13 4641303 4641689 - 4571581 4571967 - 4590935 4591321 - 19123937 128668 ABBA01053856;AL121916;AMYH02036626;NG_000969 RPL7AL2;dJ189G13.1 pseudo HGNC:16562 INFERRED 2305385 RPL7AP15 ribosomal protein L7a pseudogene 15 1 1 1 q12 122288872 122289742 - 146695125 146695995 + 147223533 147224403 + 19123937 100270895 ABBA01004398;AC242426;AL356378;NG_010250 RPL7A_1_95 pseudo HGNC:36873 INFERRED 2305383 RPL7AP17 ribosomal protein L7a pseudogene 17 1 1 1 p21.2 99313297 99314153 - 101052160 101053016 - 100586604 100587460 - 19123937 100270897 ABBA01045438;AC099670;AMYH02001560;NG_010257 RPL7A_3_78 pseudo HGNC:36501 INFERRED 2305384 RPL7AP16 ribosomal protein L7a pseudogene 16 1 1 1 p34.1 44400632 44401504 - 46116650 46117522 - 45650978 45651850 - 19123937 100270896 ABBA01050862;AL604028;AMYH02000935;NG_010253 RPL7A_2_43 pseudo HGNC:35898 INFERRED 2304417 RPL7AP18 ribosomal protein L7a pseudogene 18 1 1 1 p36.23 7224305 7225611 - 8117241 8118547 - 8057181 8058487 - 19123937 390993 ABBA01035502;ABBA01035503;AL034417;AMYH02000205;NG_009561 1298303 D1S1612 FLJ26758;RPL7A_1_5 pseudo HGNC:35613 INFERRED 2303344 RPL7AP2 ribosomal protein L7a pseudogene 2 14 14 14 q21.1 19490934 19491728 + 39626326 39627120 + 39157122 39157916 + 19123937 652978 ABBA01061549;AL109628;AL132639;AMYH02029050;NG_009399 RPL7A_26_1357 pseudo HGNC:23552 INFERRED 2305181 RPL7AP19 ribosomal protein L7a pseudogene 19 1 1 1 q23 141621782 141622408 + 168511969 168512595 + 168542731 168543357 + 19123937 100271036 ABBA01047231;AL031736;AMYH02002108;NG_010967 1680525 RH91674 RPL7A_2_119 pseudo HGNC:36820 INFERRED 2305179 RPL7AP21 ribosomal protein L7a pseudogene 21 1 1 1 q23 141657634 141658496 - 168547839 168548701 - 168578601 168579463 - 19123937 100271038 ABBA01047231;AL031736;AMYH02002108;NG_010978 1680525 RH91674 RPL7A_4_120 pseudo HGNC:37020 INFERRED 2305180 RPL7AP20 ribosomal protein L7a pseudogene 20 1 1 1 q32.1 179953680 179954552 + 206702226 206703098 + 206528893 206529765 + 19123937 100271037 ABBA01010191;AC244034;AL354681;NG_010971;NG_029062 RPL7A_3_155 pseudo HGNC:36358 INFERRED 2305178 RPL7AP22 ribosomal protein L7a pseudogene 22 2 2 2 q24.1 153021686 153022556 + 159404916 159405786 + 158548404 158549274 + 19123937 100271039 ABBA01004853;AC005042;AMYH02005058;NG_010986 RPL7A_4_289 pseudo HGNC:36592 INFERRED 2305176 RPL7AP24 ribosomal protein L7a pseudogene 24 3 3 3 q24 153898777 153899438 + 155478351 155479012 + 155760562 155761223 + 19123937 100271041 ABBA01058855;AC104472;AMYH02007960;NG_010997 RPL7A_6_424 pseudo HGNC:36588 INFERRED 2305177 RPL7AP23 ribosomal protein L7a pseudogene 23 3 3 3 p12.2 83110881 83111479 - 82368367 82368965 - 82319216 82319814 - 19123937 100271040 ABBA01031059;AC018449;AMYH02007154;NG_010992 RPL7A_5_385 pseudo HGNC:36884 INFERRED 2305175 RPL7AP25 ribosomal protein L7a pseudogene 25 3 3 3 q26.33 179656430 179657324 - 181222797 181223691 - 181505009 181505903 - 19123937 100271042 ABBA01058506;AC022294;AMYH02008246;NG_011001 RPL7A_6_441 pseudo HGNC:36714 INFERRED 2305574 RPL7AP26 ribosomal protein L7a pseudogene 26 4 4 4 q21.22 80702896 80703788 - 83411916 83412808 - 82490763 82491655 - 19123937 728128 ABBA01063436;AC067942;AMYH02009599;NG_010339 RPL7A_8_496 pseudo HGNC:36815 INFERRED 2305233 RPL7AP27 ribosomal protein L7a pseudogene 27 4 4 4 q35.2 186579244 186579973 - 189270472 189271201 - 188349318 188350047 - 6480464 19123937;21145461;21963094;21987572;23251661;23443559 152663 ABBA01070593;AC093789;AMYH02010712;NG_010457 RPL7A_11_540 pseudo HGNC:36806 INFERRED 2304955 RPL7AP28 ribosomal protein L7a pseudogene 28 4 4 4 q28.3 130118489 130119056 - 132778495 132779062 - 131857340 131857907 - 19123937 100271209 ABBA01044855;AC104821;AMYH02010122;NG_010540 RPL7A_10_519 pseudo HGNC:35656 INFERRED 2305174 RPL7AP29 ribosomal protein L7a pseudogene 29 4 4 4 p16.2 3236802 3237658 - 3325653 3326509 - 3323926 3324782 - 19123937 100271043 ABBA01029473;AL645949;AMYH02008630;NG_011005;NG_029903 1337448;1683375 D4S3034;RH92254 RPL7A_7_455 pseudo HGNC:36394 INFERRED 2306327 RPL7AP3 ribosomal protein L7a pseudogene 3 14 14 14 q13.2 15568148 15568686 - 35704321 35704859 - 35235115 35235653 - 654370 ABBA01061499;AL121594;AMYH02029005;NG_009375 pseudo HGNC:23553 INFERRED 2304747 RPL7AP30 ribosomal protein L7a pseudogene 30 4 4 4 q25 111000890 111001766 - 113709180 113710056 - 112788024 112788900 - 6480464 19123937 441034 ABBA01063822;AC017007;AMYH02009940;NG_011047 RPL7A_9_511 pseudo HGNC:35757 INFERRED 2305503 RPL7AP31 ribosomal protein L7a pseudogene 31 4 4 4 q12 54728640 54729516 + 57222279 57223155 + 56356113 56356989 + 19123937 728315 ABBA01003424;AC068620;AMYH02009256;NG_011300 RPL7A_7_480 pseudo HGNC:36857 INFERRED 2304954 RPL7AP35 ribosomal protein L7a pseudogene 35 6 6 6 q21 106368150 106368955 + 105746016 105746821 + 105298141 105298946 + 19123937 100271210 ABBA01014392;AL133406;AMYH02014228;NG_010549 RPL7A_10_727 pseudo HGNC:36113 INFERRED 2305698 RPL7AP33 ribosomal protein L7a pseudogene 33 5 5 5 q35.1 168686205 168686793 - 172652839 172653427 - 173225836 173226424 - 19123937 391850 ABBA01044025;AC008412;AMYH02012772;NG_011377 1678951 RH80828 RPL7A_12_639 pseudo HGNC:36679 INFERRED 2305571 RPL7AP36 ribosomal protein L7a pseudogene 36 INTERACTS WITH benzo[a]pyrene 6 6 6 p24.3 11347157 11348034 + 10118667 10119544 + 10118434 10119311 + 6480464 19123937 728179 ABBA01022073;AL136226;AMYH02013091;NG_010595 RPL7A_9_655 pseudo HGNC:36356 INFERRED 2304635 RPL7AP34 ribosomal protein L7a pseudogene 34 6 6 6 q12 62419109 62419966 - 64258555 64259412 - 63548650 63549507 - 19123937 441154 ABBA01023960;AL135905;AMYH02013814;NG_010352 RPL7A_14_708 pseudo HGNC:36778 INFERRED 2304500 RPL7AP37 ribosomal protein L7a pseudogene 37 6 6 6 q23.3 137961909 137962769 - 137221458 137222318 - 136900320 136901180 - 19123937 645257 ABBA01025823;AL365223;AMYH02014562;NG_010716 1670172;1797986 PEX7_2618;RH70703 RPL7A_15_759 pseudo HGNC:36507 INFERRED 1316865 RPL7A ribosomal protein L7a Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L7AE family of ribosomal proteins. It can interact with a subclass of nuclear hormone receptors, including thyroid hormone receptor, and inhibit their ability to transactivate by preventing their binding to their DNA response elements. This gene is included in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. It is co-transcribed with the U24, U36a, U36b, and U36c small nucleolar RNA genes, which are located in its second, fifth, fourth, and sixth introns, respectively. This gene rearranges with the trk proto-oncogene to form the chimeric oncogene trk-2h, which encodes an oncoprotein consisting of the N terminus of ribosomal protein L7a fused to the receptor tyrosine kinase domain of trk. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 9 9 9 q34 106765555 106768766 + 136215069 136218280 + 133348214 133351425 + 6480464 10848616;11401437;11759826;11790298;12477932;12543931;12962325;14567916;15189156;15303970;15361074;15489334;15635413;16159877;16169070;16196087;16541025;1696715;17267499;17361185;1756182;17620599;18274552;18457437;18781797;19125294;19287380;19417104;19596686;19738201;19913121;20020773;20308691;20628086;20639865;20936779;20972266;21081666;21139048;21145461;21182205;21505254;21575865;21890473;21906983;21942715;21963094;21987572;21988832;22178446;22268729;22505724;22586326;22623428;22863883;22939629;23000965;23077236;23084401;23125841;23246001;23398456;23443559;23463506;2403926;24113185;24244333;24457600;24583282;24816145;25015289;25027693;2966065;7568167;7651828;8125298;8360149;8482538;8499913;8722009;8764399;8800442;9030593;9582194;9703018 6130 P62424;Q5T8U2;Q5T8U3 AB056665;ABBA01032461;AC002107;AK222534;AK291123;AK311743;AL158826;AL593848;AL772161;AMYH02021827;BC005128;BC020989;BC021052;BC021979;BC023594;BC023624;BC032533;BC071900;BC071901;BC073802;BC105290;BX641050;CH471090;M36072;NM_000972;X06705;X52138;X61923 AAA60282;AAH05128;AAH21979;AAH23594;AAH23624;AAH71900;AAH71901;AAH73802;AAI05291;ABM83624;ABM86866;BAB39381;BAF83812;BAG34686;CAA29889;CAA36383;CAA43925;CAI12832;CAI12833;CAI12834;EAW88061;EAW88062;EAW88063;EAW88064;EAW88065;EAW88066;NP_000963;P62424 Hs.499839 1852786;2116883 RP_L7A;STS-X52138 L7A;SURF3;TRUP 60S ribosomal protein L7a;OTTHUMP00000022469;PLA-X polypeptide;surfeit 3;surfeit locus protein 3;thyroid hormone receptor uncoupling protein APPROVED protein-coding ENSG00000148303 HGNC:10364 01712 185640 REVIEWED 2305549 RPL7AP38 ribosomal protein L7a pseudogene 38 7 7 7 p15.2 26950602 26951464 + 26961727 26962585 + 26922108 26922966 + 19123937;9847074 442660 ABBA01056753;AC073472;AMYH02015403;CH236948;NG_009419 1801710;1801820;1802958;1812750;1830670;2056920;2056922;2056924;2056926;2056928;2056930;2056932;2056934;2056936;2056938;2056940;2056942;2056944;2056946;2056948;2056950;2056952;2056954;2056956;2056958;2056960;2056962;2056964;2056966;2056968;2191896;2191898;2191900;2191902;5038298 ECD01735;ECD01791;ECD02369;ECD07386;ECD16471;REN99625;REN99626;REN99627;REN99628;REN99629;REN99630;REN99631;REN99632;REN99633;REN99634;REN99635;REN99636;REN99637;REN99638;REN99639;REN99640;REN99641;REN99642;REN99643;REN99644;REN99645;REN99646;REN99647;REN99648;REN99649;REN99650;stSG609193;stSG609194;stSG609195;stSG609196 RPL7A_11_798 pseudo HGNC:36161 INFERRED 2305518 RPL7AP40 ribosomal protein L7a pseudogene 40 7 7 7 q21.3 91524066 91524714 - 96829959 96830782 - 97200647 97201470 - 19123937 442712 ABBA01045754;AC073900;AMYH02016316;CH236949;NG_009431 RPL7A_18_822 pseudo HGNC:35883 INFERRED 2303343 RPL7AP4 ribosomal protein L7a pseudogene 4 14 14 14 q22.3 36059408 36060263 + 56010094 56010949 + 55543376 55544231 + 19123937 652985 ABBA01018212;AL138499;AMYH02029241;NG_009400 2159631 G19269 RPL7A_27_1369 pseudo HGNC:23554 INFERRED 2305616 RPL7AP39 ribosomal protein L7a pseudogene 39 7 7 q22.1 102395577 102396436 + 102755130 102755989 + 19123937 646476 AC006477;AC105052;AC243838;NG_010410 RPL7A_12_828 pseudo HGNC:35881 INFERRED 2304951 RPL7AP41 ribosomal protein L7a pseudogene 41 7 7 7 p15.2 25241238 25242059 - 25251783 25252604 - 25212164 25212985 - 19123937 100271213 ABBA01056732;AC004129;AMYH02015384;CH236948;NG_010563 RPL7A_16_795 pseudo HGNC:36403 INFERRED 2304949 RPL7AP42 ribosomal protein L7a pseudogene 42 7 7 7 q31.1 106423528 106424389 - 111611219 111612080 - 111971164 111972025 - 19123937 100271215 ABBA01057850;AC003080;AMYH02016580;CH236947;NG_010571;NG_028060 1653583 GDB:3754623 RPL7A_19_836 pseudo HGNC:36716 INFERRED 2305547 RPL7AP43 ribosomal protein L7a pseudogene 43 7 7 q11.23 76744671 76745525 - 77115354 77116208 - 19123937 644236 AC007000;AMYH02016096;NG_010732 RPL7A_17_815 pseudo HGNC:35775 INFERRED 2304876 RPL7AP32 ribosomal protein L7a pseudogene 32 5 5 5 q14.1 74724930 74725800 + 78825104 78825974 + 79529281 79530151 + 19123937 133748 ABBA01062018;AC093270;AMYH02011647;NG_010602 RPL7A_8_583 pseudo HGNC:36415 INFERRED 2304755 RPL7AP44 ribosomal protein L7a pseudogene 44 9 9 9 q31.2 80245250 80246086 - 109741021 109741857 - 106978740 106979576 - 19123937 100271398 ABBA01042801;AL512593;AMYH02021413;NG_011356 RPL7A_21_1001 pseudo HGNC:36645 INFERRED 2304379 RPL7AP45 ribosomal protein L7a pseudogene 45 4 9 9 p11.2 189003261 189010325 + 45558047 45565124 + 41475024 41482101 + 19123937 100132678 ABBA01010782;AL354718;CR788264;NG_021655 RPL7A_15_979 pseudo HGNC:35935 INFERRED 2304395 RPL7AP46 ribosomal protein L7a pseudogene 46 4 9 9 q13 189003261 189010325 + 68175421 68182483 - 63579687 63586749 - 19123937 441440 AL591438;AMYH02020834;CH878332;NG_010499 EAW50448 RPL7A_20_981 pseudo HGNC:35698 INFERRED 2304953 RPL7AP47 ribosomal protein L7a pseudogene 47 9 9 9 p23 14137772 14138648 + 14204217 14205093 + 14204218 14205094 + 19123937 100271211 ABBA01065304;AL441963;AMYH02019188;NG_010554 RPL7A_13_964 pseudo HGNC:36833 INFERRED 2304950 RPL7AP49 ribosomal protein L7a pseudogene 49 9 9 p12 42128839 42129412 + 39983821 39984394 + 19123937 100271214 AL772307;AMYH02020517;NG_011370 RPL7A_16_980 pseudo HGNC:35507 INFERRED 2304952 RPL7AP48 ribosomal protein L7a pseudogene 48 9 9 9 p22 20471061 20471933 + 20532524 20533396 + 20532526 20533398 + 19123937 100271212 ABBA01065185;AL163193;AMYH02019274;NG_010558 RPL7A_14_968 pseudo HGNC:35953 INFERRED 1349617 RPL7AP5 ribosomal protein L7a pseudogene 5 14 14 14 q24.1 48863729 48864609 - 68805386 68806266 - 68338669 68339549 - 19123937 326309 ABBA01023695;AL122013;AMYH02029417;NG_002561;NG_023267 RPL7A_26_1382 pseudo HGNC:19781 INFERRED 2305487 RPL7AP50 ribosomal protein L7a pseudogene 50 10 10 10 q21.3 58931467 58932347 - 65662145 65663025 - 63902385 63903265 - 19123937;8482538 87688 ABBA01019511;AC044782;AJ224080;AMYH02023209;NG_003062 RPL7A_23_1048 pseudo HGNC:36117 INFERRED 2304571 RPL7AP51 ribosomal protein L7a pseudogene 51 10 10 10 q22.2 62369132 62369897 + 69093881 69094646 + 67334123 67334888 + 19123937 100271533 ABBA01019543;AC022029;AMYH02023240;NG_010899;NG_034072 RPL7A_17_1050 pseudo HGNC:36826 INFERRED 2304570 RPL7AP52 ribosomal protein L7a pseudogene 52 10 10 10 q24.1-q24.3 90382452 90383237 + 96642321 96643106 + 94882564 94883349 + 19123937 100271534 ABBA01021845;AL133513;AMYH02023577;NG_010903 RPL7A_18_1082 pseudo HGNC:36233 INFERRED 2305230 RPL7AP54 ribosomal protein L7a pseudogene 54 11 11 11 q14.1 79978188 79979068 + 82668435 82669315 + 82957393 82958273 + 19123937 390228 ABBA01017369;AMYH02025190;AP000893;NG_010447 RPL7A_22_1161 pseudo HGNC:36264 INFERRED 2305629 RPL7AP53 ribosomal protein L7a pseudogene 53 10 10 10 p11.22 33111827 33112704 - 33346483 33347360 - 33057555 33058432 - 19123937 401640 ABBA01033376;AL133333;AMYH02022588;NG_011194 RPL7A_22_1031 pseudo HGNC:36392 INFERRED 2304568 RPL7AP56 ribosomal protein L7a pseudogene 56 11 11 11 p12 37899137 37899982 + 37747195 37748040 + 37725645 37726490 + 19123937 100271536 ABBA01060835;AC061997;AMYH02024626;NG_010915 RPL7A_21_1137 pseudo HGNC:35585 INFERRED 2304569 RPL7AP55 ribosomal protein L7a pseudogene 55 11 11 11 p15.4 7920744 7921536 + 7805221 7806013 + 7783674 7784466 + 19123937 100271535 ABBA01028682;AC044810;AMYH02024284;NG_010910 2056960 REN99645 RPL7A_19_1118 pseudo HGNC:36314 INFERRED 2305842 RPL7AP58 ribosomal protein L7a pseudogene 58 11 11 11 p14.1 29893455 29894338 + 29747285 29748168 + 29725738 29726621 + 19123937 645846 ABBA01060943;AL135933;AMYH02024528;NG_011385 RPL7A_20_1131 pseudo HGNC:36586 INFERRED 1352270 RPL7AP6 ribosomal protein L7a pseudogene 6 14 14 14 q24.2 50416096 50416976 - 70351999 70352879 - 69885282 69886162 - 19123937 326310 ABBA01030825;AL157789;AMYH02029441;NG_002562;NG_028217 RPL7A_27_1386 pseudo HGNC:19785 INFERRED 2305622 RPL7AP62 ribosomal protein L7a pseudogene 62 15 15 15 q21.1 24914735 24915612 - 48022280 48023157 - 47730083 47730960 - 6480464 19123937 644029 ABBA01039148;AC044787;AMYH02030386;NG_010977;NG_029119 1722055;2161056 D15S666;G59914 RPL7A_28_1429 pseudo HGNC:36890 INFERRED 2305552 RPL7AP63 ribosomal protein L7a pseudogene 63 16 16 16 q24.1 70860006 70860885 + 86559041 86559920 + 86525435 86526314 + 19123937 401865 ABBA01034302;AC009108;AMYH02032607;NG_011041 1691216;1849365 RH80421;SHGC-60741 RPL7A_28_1503 pseudo HGNC:35504 INFERRED 2305461 RPL7AP64 ribosomal protein L7a pseudogene 64 17 17 17 p13.1 950 1597 - 7044264 7044911 + 7140945 7141592 + 19123937 728486 ABBA01054851;AC120057;AMYH02032887;NG_011376 RPL7A_29_1509 pseudo HGNC:35821 INFERRED 2304508 RPL7AP66 ribosomal protein L7a pseudogene 66 18 18 18 q12.2 33726926 33727801 - 36914781 36915656 - 39334817 39335692 - 6480464 19123937;21988832;23251661 388474 ABBA01022400;AC011139;AMYH02034584;NG_010633 RPL7A_30_1597 pseudo HGNC:35682 INFERRED 2304565 RPL7AP61 ribosomal protein L7a pseudogene 61 13 13 13 q32.2 79401288 79401889 + 98553906 98554507 + 97901652 97902253 + 19123937 100271539 ABBA01027158;AL356580;AMYH02028554;NG_010928 RPL7A_25_1330 pseudo HGNC:35482 INFERRED 2304566 RPL7AP60 ribosomal protein L7a pseudogene 60 12 12 12 q24.13 112365927 112366800 - 112739616 112740489 - 112301812 112302685 - 19123937 100271538 ABBA01019926;AC004217;AMYH02027218;NG_010924 RPL7A_25_1279 pseudo HGNC:35859 INFERRED 2304567 RPL7AP57 ribosomal protein L7a pseudogene 57 11 11 11 q14.3 89194536 89195402 + 91894247 91895113 + 92161081 92161947 + 19123937 100271537 ABBA01040059;AMYH02025346;AP003124;NG_010920 1751559 SHGC-105387 RPL7A_23_1164 pseudo HGNC:36551 INFERRED 2304564 RPL7AP67 ribosomal protein L7a pseudogene 67 18 18 18 q12 29771160 29771840 - 32963309 32963989 - 35383345 35384025 - 19123937 100271542 ABBA01022448;AC007998;AMYH02034552;NG_010944 RPL7A_29_1595 pseudo HGNC:35537 INFERRED 2304563 RPL7AP65 ribosomal protein L7a pseudogene 65 17 17 17 p11.2 19156267 19157078 + 18215196 18216007 + 18311882 18312693 + 19123937 100271543 ABBA01009733;AC127537;AMYH02033114;NG_010952 RPL7A_30_1522 pseudo HGNC:37031 INFERRED 2305794 RPL7AP68 ribosomal protein L7a pseudogene 68 p12 19123937 729926 AC010620;NG_010371 RPL7A_31_1637 pseudo HGNC:37014 2304562 RPL7AP69 ribosomal protein L7a pseudogene 69 19 19 19 q13.43 54620401 54621194 + 57576714 57577507 + 57065346 57066139 + 19123937 100271545 ABBA01020819;AC044792;AMYH02036506;NG_010957 RPL7A_31_1673 pseudo HGNC:36697 INFERRED 1351099 RPL7AP7 ribosomal protein L7a pseudogene 7 6 6 6 p21.3 31374043 31374930 - 29770910 29771797 - 29803133 29804020 - 10557312;19123937 353013 ABBA01038036;AL645939;AL671561;AL844851;AMYH02013420;BA000025;BX005428;BX927141;CR759769;CR788234;CR925767;NG_002738 RPL7A_13_677;RPL7B;dJ377H14.2 pseudo HGNC:21395 INFERRED 2304754 RPL7AP71 ribosomal protein L7a pseudogene 71 X X X p11.22 58080959 58081725 + 54249736 54250502 + 54223303 54224069 + 19123937 100271399 ABBA01069659;AMYH02039486;NG_010209;NG_021259;Z84469 RPL7A_33_1780 pseudo HGNC:35754 INFERRED 2305489 RPL7AP72 ribosomal protein L7a pseudogene 72 X X X q25 127830729 127831496 + 127447259 127448026 + 128313281 128314048 + 19123937 100270754 ABBA01047672;AMYH02040450;NG_009639;Z70272 RPL7A_34_1809 pseudo HGNC:36442 INFERRED 2305572 RPL7AP70 ribosomal protein L7a pseudogene 70 22 22 22 q11.21 3631865 3632743 + 19779798 19780676 + 19792275 19793153 + 6480464 19123937 728139 ABBA01005404;AC000089;AMYH02038051;NG_010403 1656234 D22S1266 RPL7A_32_1739 pseudo HGNC:36752 INFERRED 6481463 RPL7AP73 ribosomal protein L7a pseudogene 73 13 13 23377432 23377737 + 22803293 22803598 + 100873817 ABBA01068625;AL162853;AMYH02027682;NG_032383 pseudo HGNC:41968 INFERRED 1606692 RPL7AP9 ribosomal protein L7a pseudogene 9 q15-q21 8482538 161322 AJ224081;NG_001316 1697916 RH102487 rpL7a pseudo HGNC:32398 1353827 RPL7AP8 ribosomal protein L7a pseudogene 8 10 10 10 q23.2 82393298 82394160 - 88390523 88391385 - 86630766 86631628 - 19123937 340749 ABBA01033680;AC067750;AMYH02023481;NG_005665 RPL7A_24_1075;bA141D8.1 pseudo HGNC:23738 INFERRED 2305918 RPL7AP9 ribosomal protein L7a pseudogene 9 12 12 12 q21.2 76659107 76659984 + 76993432 76994309 + 76599652 76600529 + 19123937;21145461;21408207;8482538 441642 ABBA01053543;AC107032;AJ224081;AMYH02026786;CH471054;NG_010228 EAW97328 RPL7AP59;RPL7A_24_1258;rpL7a APPROVED pseudo HGNC:32398 INFERRED 6771204 RPL7L1P13 ribosomal protein L7-like 1 pseudogene 13 4 4 4 q25 108615030 108615782 - 111320920 111321672 - 110399764 110400516 - 9847074 100133103 ABBA01063798;AC093872;AMYH02009910;NG_009923 1779161 SHGC-23232 pseudo HGNC:44212 INFERRED 4891561 RPL7L1P1 ribosomal protein L7-like 1 pseudogene 1 13 13 13 q31.3 71331016 71331767 - 90485555 90486306 - 89833301 89834052 - 100129260 ABBA01027254;AL355821;AL359842;AL591764;AMYH02028452;NG_009895 1719601;1751355;1758599 RH123705;SHGC-105150;SHGC-148905 pseudo HGNC:39455 INFERRED 5130585 RPL7L1P12 ribosomal protein L7-like 1 pseudogene 12 13 13 13 80445617 80446342 - 99601976 99602701 - 98949722 98950447 - 100420200 ABBA01027132;AL139084;AMYH02028585;NG_024880 pseudo HGNC:39811 INFERRED 4891975 RPL7L1P3 ribosomal protein L7-like 1 pseudogene 3 7 7 7 q11.23 70420638 70421343 + 75552068 75552773 + 75922750 75923455 + 100131964 ABBA01005894;AC005067;AMYH02016073;NG_008930;NG_009435 pseudo HGNC:39485 INFERRED 1352288 RPL7L1 ribosomal protein L7-like 1 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN ribosome (inferred); INTERACTS WITH hydrogen peroxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 6 6 6 p21.1 44399935 44406997 + 42847354 42857627 + 42879616 42889889 + 6480464 12477932;14574404;14702039;15489334;17207965;17353931;21139048;21145461;21890473;21963094;21988832;22178446;23000965;23314748;24250222;24457600 285855 A8K5J5;Q6DKI1;R4GMU7 ABBA01050708;ABBA01050709;AK021904;AK291310;AK291949;AK299816;AL035587;AMYH02013632;BC036861;BC058020;BC064519;BC073890;CH471081;HI574016;NM_198486;XM_005249026 AAH58020;AAH73890;ACE86942;ACE87630;ADQ31929;BAF83999;BAF84638;BAG51057;BAH13138;CBX47497;EAX04104;EAX04105;EAX04106;NP_940888;Q6DKI1;XP_005249083 Hs.520133 5015961;5022578;5124377 D15S1477;D1S1423;RH79851 MGC62004;dJ475N16.4 60S ribosomal protein L7-like 1;OTTHUMP00000016410;OTTHUMP00000195524 protein-coding ENSG00000146223 HGNC:21370 18000 PROVISIONAL 4891979 RPL7L1P6 ribosomal protein L7-like 1 pseudogene 6 13 13 13 81966014 81966989 + 101121475 101122450 + 100469221 100470196 + 100420201 ABBA01027088;AL136526;AMYH02028609;NG_024947 pseudo HGNC:39488 INFERRED 4891974 RPL7L1P7 ribosomal protein L7-like 1 pseudogene 7 3 3 3 q23 137226768 137227485 - 138800502 138801219 - 139081660 139082377 - 646641 ABBA01059066;AC069525;AMYH02007785;NG_022221 pseudo HGNC:39489 INFERRED 4891976 RPL7L1P8 ribosomal protein L7-like 1 pseudogene 8 3 3 3 q26.33 180762662 180763415 + 182328457 182329210 + 182610669 182611422 + 402152 ABBA01058492;AC021055;AMYH02008265;NG_009922 1656526;1858271;2152698 D3S2382;D3S3402;G16586 pseudo HGNC:39490 INFERRED 1347681 RPL7P1 ribosomal protein L7 pseudogene 1 5 5 5 q33.3 145555216 145556045 + 149473848 149474677 + 150094285 150095114 + 19123937;8001978 6174 ABBA01026286;AC011382;AMYH02012455;NG_001193;NG_012303;X72686;X72687 2112196;5021962 D5S2771;Rpl7 RPL17P;RPL7P;RPL7_11_628 APPROVED pseudo HGNC:10367 INFERRED 2305583 RPL7P10 ribosomal protein L7 pseudogene 10 1 1 1 p31.1 79796623 79797454 - 81563880 81564711 - 81098195 81099026 - 19123937 646538 ABBA01074356;AL158218;AMYH02001347;NG_010722 1692596;1707774;1740739 AL033934;D1S3235;SHGC-82107 RPL7_2_66 pseudo HGNC:36599 INFERRED 2305451 RPL7P11 ribosomal protein L7 pseudogene 11 1 1 1 p36.23 7919191 7919872 + 8810469 8811150 + 8750410 8751091 + 19123937 100270823 ABBA01035522;AL357552;AMYH02000218;NG_011186 RPL7_1_6 pseudo HGNC:35667 INFERRED 4891978 RPL7L1P4 ribosomal protein L7-like 1 pseudogene 4 5 5 5 q23.1 113063361 113064125 - 117114521 117115285 - 117778826 117779590 - 100130968 ABBA01069001;AC114322;AMYH02012034;NG_009915 pseudo HGNC:39486 INFERRED 4891980 RPL7L1P2 ribosomal protein L7-like 1 pseudogene 2 7 7 7 51391940 51392675 - 51327129 51327864 - 51259432 51260167 - 100420155 ABBA01011810;AC005535;AMYH02015703;CH236955;NG_026460 pseudo HGNC:39484 INFERRED 2305669 RPL7P12 ribosomal protein L7 pseudogene 12 2 2 2 p22.2 38299504 38300339 + 38458690 38459525 + 38231548 38232383 + 19123937 100131085 ABBA01074990;AC009229;AMYH02003621;NG_010041 RPL7_3_208 pseudo HGNC:36611 INFERRED 2305528 RPL7P13 ribosomal protein L7 pseudogene 13 2 2 2 p16.3 49945957 49946779 + 50105750 50106572 + 49878612 49879434 + 19123937 130728 ABBA01075203;AC078994;AC109817;AMYH02003798;NG_010878 1709882 SHGC-84780 RPL7_4_218 pseudo HGNC:36861 INFERRED 2304850 RPL7P14 ribosomal protein L7 pseudogene 14 2 2 2 q33.2 197657785 197658399 + 203904828 203905442 + 203040105 203040719 + 19123937 100129743 ABBA01062595;AC023271;AMYH02005588;CH471063;NG_011075 EAW70327 RPL7_5_313 pseudo HGNC:35984 INFERRED 2305427 RPL7P18 ribosomal protein L7 pseudogene 18 5 5 5 q15 90023463 90024289 - 94161595 94162421 - 94825890 94826716 - 19123937 100270852 ABBA01069265;AC008534;AMYH02011816;NG_009976 RPL7_7_596 pseudo HGNC:36949 INFERRED 4891983 RPL7L1P9 ribosomal protein L7-like 1 pseudogene 9 2 2 2 q35 212393147 212393905 - 218625261 218626019 - 217760538 217761296 - 100128899 ABBA01062833;AC010886;AMYH02005783;NG_009911 pseudo HGNC:39491 INFERRED 2305428 RPL7P17 ribosomal protein L7 pseudogene 17 4 4 4 q21.1 75304929 75305643 - 78003552 78004266 - 77082399 77083113 - 19123937 100270851 ABBA01063370;AC104771;AMYH02009522;NG_009971 RPL7_6_493 pseudo HGNC:36116 INFERRED 2305429 RPL7P15 ribosomal protein L7 pseudogene 15 3 3 3 q21.2 122277927 122278661 - 123870742 123871409 - 124151895 124152562 - 19123937 100270850 ABBA01016443;AC117401;AMYH02007559;NG_009964;NG_012742 1341560 D3S2316 RPL7_4_398 pseudo HGNC:36740 INFERRED 4891985 RPL7L1P5 ribosomal protein L7-like 1 pseudogene 5 17 17 17 q21.31 39152019 39152753 - 42442385 42443119 - 44365017 44365751 - 390800 ABBA01028374;AC003043;AMYH02033481;NG_022451 pseudo HGNC:39487 INFERRED 4891977 RPL7L1P11 ribosomal protein L7-like 1 pseudogene 11 X X X q28 147894161 147894913 + 147546205 147546957 + 148464685 148465437 + 347509 ABBA01049757;AC002368;AMYH02040750;NG_009927 pseudo HGNC:39493 INFERRED 2305904 RPL7P16 ribosomal protein L7 pseudogene 16 3 3 3 q22.1 130388594 130389420 - 131962304 131963130 - 132243460 132244286 - 19123937 729677 ABBA01059187;AC073021;AMYH02007684;NG_010415 RPL7_5_405 pseudo HGNC:36591 INFERRED 2305426 RPL7P19 ribosomal protein L7 pseudogene 19 5 5 5 q31 133930267 133930954 + 137809433 137810106 + 138473744 138474417 + 19123937 100270853 ABBA01068671;AC113403;AMYH02012293;NG_009983 RPL7_9_617 pseudo HGNC:36268 INFERRED 2304976 RPL7P20 ribosomal protein L7 pseudogene 20 5 5 5 q34 161493291 161494138 - 165455489 165456336 - 166028484 166029331 - 19123937 728843 ABBA01044167;AC008499;AMYH02012663;KF458052;NG_010025 RPL7_8_636 pseudo HGNC:36013 INFERRED 1348758 RPL7P2 ribosomal protein L7 pseudogene 2 20 20 20 p13 2120151 2120418 + 2056202 2056469 + 2075556 2075823 + 140695 ABBA01053785;AL359916;AMYH02036574;NG_000981 1756725 SHGC-143835 bA550O8.1 pseudo HGNC:16336 INFERRED 2305224 RPL7P22 ribosomal protein L7 pseudogene 22 5 5 5 q13.2 67916649 67917386 + 72021244 72021981 + 72725417 72726154 + 19123937 728620 ABBA01061907;AC063979;AMYH02011556;NG_009670 RPL7_6_574 pseudo HGNC:35802 INFERRED 2305534 RPL7P25 ribosomal protein L7 pseudogene 25 6 6 6 p21.31 36138625 36139427 + 34584299 34585101 + 34616522 34617324 + 19123937 100129061 ABBA01038193;AL031577;AMYH02013521;NG_009529 FLJ32402;RPL7_12_684 pseudo HGNC:36455 INFERRED 2304385 RPL7P24 ribosomal protein L7 pseudogene 24 5 5 5 q14.1 75697442 75698598 + 79796131 79797287 + 80500312 80501468 + 19123937 100127893 ABBA01062041;AC008771;AMYH02011667;NG_010787 RPL7_8_586 pseudo HGNC:36715 INFERRED 2304626 RPL7P21 ribosomal protein L7 pseudogene 21 5 5 5 q31.3 138780352 138794547 + 142699160 142713355 + 143319595 143333790 + 19123937 729123 ABBA01026363;AC091925;AMYH02012376;CH471062;NG_009062;NG_010188 EAW61874 1780564;2129642;2132734 D5S1871;SHGC-58162;bac51148T RPL7_10_623 pseudo HGNC:36762 INFERRED 2305909 RPL7P23 ribosomal protein L7 pseudogene 23 5 5 5 q13.3 72772681 72773527 + 76878179 76879025 + 77582354 77583200 + 11181995;19123937 648000 ABBA01061981;AC108173;AMYH02011620;CH471084;NG_010343 EAW95808 RPL7_7_580 pseudo HGNC:35658 INFERRED 2305500 RPL7P26 ribosomal protein L7 pseudogene 26 INTERACTS WITH sirolimus 6 6 6 p22.3 18769101 18769630 - 17530960 17531489 - 17530729 17531258 - 6480464 19123937 728380 ABBA01022220;AL034372;AL138824;AMYH02013201;NG_009536 RPL7_9_661 pseudo HGNC:36630 INFERRED 2305661 RPL7P27 ribosomal protein L7 pseudogene 27 6 6 6 q14.3 87215227 87216053 - 86796067 86796893 - 86086349 86087175 - 19123937 643906 ABBA01040480;AL049545;AMYH02014046;NG_010353 RPL7_11_720 pseudo HGNC:36649 INFERRED 1346184 RPL7P3 ribosomal protein L7 pseudogene 3 20 20 20 q13.33 57880214 57880928 + 61169878 61170592 + 62572671 62573385 + 23251661 140857 ABBA01012316;AL449263;AMYH02037435;NG_001005 dJ353C17.2 pseudo HGNC:16566 INFERRED 2305693 RPL7P28 ribosomal protein L7 pseudogene 28 6 6 6 q21 110394970 110395688 - 109648378 109649096 - 109327175 109327893 - 19123937 442242 ABBA01026127;AL359711;AMYH02014279;NG_011375 RPL7_12_736 pseudo HGNC:35899 INFERRED 2305656 RPL7P29 ribosomal protein L7 pseudogene 29 6 6 6 q14.3 88098924 88099748 + 87680152 87680976 + 86970434 86971258 + 19123937 643971 ABBA01040487;AL157777;AMYH02014052;NG_010680 RPL7_13_721 pseudo HGNC:35700 INFERRED 2305320 RPL7P30 ribosomal protein L7 pseudogene 30 7 7 7 q21.11 78859322 78860035 - 84157433 84158146 - 84528117 84528830 - 19123937 100270908 ABBA01045891;AC004907;AMYH02016191;CH236949;NG_010316 1340598 D7S2485 RPL7_13_818 pseudo HGNC:36151 INFERRED 2305319 RPL7P31 ribosomal protein L7 pseudogene 31 7 7 7 p14.3 34731589 34731968 + 34750715 34751094 + 34711103 34711482 + 19123937 100270909 ABBA01056880;AC005492;AMYH02015506;NG_010320;NG_021366 RPL7_14_803 pseudo HGNC:36988 INFERRED 2305748 RPL7P32 ribosomal protein L7 pseudogene 32 7 7 7 q31.1 102964019 102964848 + 108150657 108151486 + 108510213 108511042 + 19123937;21145461;21987572 100130892 O95036 ABBA01057890;AC005058;AMYH02016532;CH236947;NG_010411 AAD08846 RPL7P;RPL7_15_834 pseudo HGNC:35692 INFERRED 2305666 RPL7P33 ribosomal protein L7 pseudogene 33 9 9 9 p22.3 15295048 15295878 + 15361372 15362202 + 15361374 15362204 + 19123937 286348 ABBA01065280;AL390246;AMYH02019207;NG_010731 RPL7_16_965 pseudo HGNC:35937 INFERRED 2305637 RPL7P38 ribosomal protein L7 pseudogene 38 12 12 12 q21.31 80089210 80090033 + 80422657 80423480 + 80028877 80029700 + 19123937 120872 ABBA01053498;AC074272;AMYH02026820;NG_010219 RPL7_24_1261 pseudo HGNC:36731 INFERRED 2305524 RPL7P34 ribosomal protein L7 pseudogene 34 10 10 10 q23.31 84125153 84125506 - 90378339 90378692 - 88618582 88618935 - 19123937 389992 ABBA01021955;AL139406;AMYH02023503;CH471066;NG_010538 EAW50164 RPL7_14_1078 pseudo HGNC:36181 INFERRED 2304946 RPL7P36 ribosomal protein L7 pseudogene 36 10 10 10 q24.2 94544232 94544978 + 100807380 100808126 + 99047623 99048369 + 19123937 100271218 ABBA01063257;AL590036;AMYH02023628;NG_010586;NG_023416 RPL7_18_1089 pseudo HGNC:37045 INFERRED 2304948 RPL7P35 ribosomal protein L7 pseudogene 35 10 10 10 q25 106041419 106042246 - 112309804 112310631 - 110550046 110550873 - 19123937 100271216 ABBA01063027;AL359260;AMYH02023797;NG_010577 RPL7_15_1095 pseudo HGNC:36153 INFERRED 2304947 RPL7P39 ribosomal protein L7 pseudogene 39 12 12 12 q14.3 64927136 64927968 - 65261668 65262500 - 64867888 64868720 - 19123937 100271217 ABBA01026594;AC078815;AMYH02026669;NG_010581 RPL7_16_1250 pseudo HGNC:36214 INFERRED 2305663 RPL7P37 ribosomal protein L7 pseudogene 37 10 10 10 p11.21 35752608 35753439 + 35986202 35987033 + 35697274 35698105 + 19123937 439954 ABBA01033329;AL356093;AMYH02022631;NG_010766 RPL7_17_1035 pseudo HGNC:36656 INFERRED 1348113 RPL7P4 ribosomal protein L7 pseudogene 4 6 6 6 p21.33 32262662 32263452 - 30664523 30665313 - 30696746 30697536 - 19123937 100133037 AB088099;ABBA01038053;AL662797;AL662848;AL845353;AMYH02013437;BX908728;BX927283;CR759873;CR788240;CR936878;NG_009564 1671884;1774625;2126831 RH25387;RH36324;WI-15445 Em:AB023049.2;KIAA1949;RPL7_10_678 pseudo HGNC:21634 INFERRED 2304945 RPL7P40 ribosomal protein L7 pseudogene 40 12 12 12 p12.3 22418385 22419129 + 17274650 17275394 + 17121716 17122460 + 19123937 100271220 ABBA01067915;AC092793;AMYH02026110;NG_010600 RPL7_19_1215 pseudo HGNC:36031 INFERRED 2304943 RPL7P41 ribosomal protein L7 pseudogene 41 12 12 12 q13 52926027 52926713 + 53279507 53280193 + 52885723 52886409 + 19123937 100271222 ABBA01008297;AC107016;AMYH02026502;NG_010611 RPL7_21_1238 pseudo HGNC:36297 INFERRED 2304989 RPL7P44 ribosomal protein L7 pseudogene 44 13 13 13 q22.3 58453234 58454059 - 77555247 77556072 - 76981112 76981937 - 19123937 390413 ABBA01021659;AC001226;AMYH02028311;NG_010043 RPL7_17_1325 pseudo HGNC:36143 INFERRED 2304941 RPL7P43 ribosomal protein L7 pseudogene 43 12 12 12 q21.2 76780979 76781816 + 77115298 77116135 + 76721518 76722355 + 19123937 100271224 ABBA01053541;AC107032;AMYH02026787;NG_010619 RPL7_23_1260 pseudo HGNC:36441 INFERRED 2304942 RPL7P42 ribosomal protein L7 pseudogene 42 12 12 12 q15 68743010 68743538 + 69079560 69080088 + 68685780 68686308 + 19123937 100271223 ABBA01026553;AC090061;AMYH02026699;NG_010616 RPL7_22_1255 pseudo HGNC:35543 INFERRED 2304940 RPL7P45 ribosomal protein L7 pseudogene 45 13 13 13 q33.2 86311118 86311942 + 105466662 105467486 + 104814311 104815135 + 19123937 100271225 ABBA01027061;AL355552;AMYH02028649;NG_010625 1717375 RH122178 RPL7_25_1334 pseudo HGNC:35522 INFERRED 2304511 RPL7P48 ribosomal protein L7 pseudogene 48 17 17 17 q21.33 46040962 46041793 - 49579783 49580614 - 51502422 51503253 - 19123937 388401 ABBA01041265;AC005883;AMYH02033622;NG_010260 RPL7_19_1558 pseudo HGNC:35540 INFERRED 2304987 RPL7P46 ribosomal protein L7 pseudogene 46 16 16 16 p13.13 11290262 11291862 + 11120818 11122418 + 11026961 11028561 + 19123937 642451 ABBA01006805;AC007014;AMYH02031458;NG_010773;NG_016757 RPL7_26_1472 pseudo HGNC:36706 INFERRED 2304944 RPL7P49 ribosomal protein L7 pseudogene 49 17 17 17 q25 71018807 71019600 - 74426433 74427226 - 76430351 76431144 - 19123937 100271221 ABBA01028742;AC015802;AMYH02034013;NG_010606 RPL7_20_1575 pseudo HGNC:36912 INFERRED 2304386 RPL7P50 ribosomal protein L7 pseudogene 50 19 19 19 p13.3 6533157 6533971 + 6593317 6594131 + 6593306 6594120 + 19123937 729449 ABBA01051465;AC008760;AMYH02035356;NG_010543 RPL7_28_1618 pseudo HGNC:35816 INFERRED 2303448 RPL7P5 ribosomal protein L7 pseudogene 5 15 15 15 q26.3 76510451 76511266 - 100091519 100092333 - 99551314 99552128 - 19123937 654381 ABBA01020554;AC103967;AMYH02031153;NG_009530 RPL7_18_1464 pseudo HGNC:28886 INFERRED 2304939 RPL7P51 ribosomal protein L7 pseudogene 51 19 19 19 q13.3 49203165 49204004 + 52152091 52152930 + 51648838 51649677 + 19123937 100271226 ABBA01068267;AC018755;AMYH02036387;NG_010631 5106015 SHGC-146146 RPL7_29_1664 pseudo HGNC:36432 INFERRED 2305360 RPL7P52 ribosomal protein L7 pseudogene 52 22 22 22 q13.1 24304307 24305140 - 40502257 40503090 - 40106253 40107086 - 19123937 646912 ABBA01055593;AL031589;AMYH02038396;NG_009750 RPL7_21_1751 pseudo HGNC:35676 INFERRED 2305047 RPL7P53 ribosomal protein L7 pseudogene 53 X X X q13.2 73038816 73039554 + 72755339 72756077 + 73535503 73536241 + 19123937 100271145 ABBA01059667;AL450108;AMYH02039771;NG_010222 RPL7_30_1785 pseudo HGNC:36831 INFERRED 2305046 RPL7P54 ribosomal protein L7 pseudogene 54 X X X q21.1 78259044 78259876 + 78018639 78019471 + 78763142 78763974 + 19123937 100271146 ABBA01030136;AL590083;AMYH02039831;NG_010226 RPL7_31_1789 pseudo HGNC:36817 INFERRED 2305045 RPL7P55 ribosomal protein L7 pseudogene 55 X X X q21.32 93354076 93354889 + 92828831 92829644 + 93573832 93574645 + 19123937 100271147 ABBA01064922;AL157382;AMYH02039974;NG_010232 RPL7_32_1793 pseudo HGNC:36105 INFERRED 2305812 RPL7P57 ribosomal protein L7 pseudogene 57 X X X p11.23 51895658 51896405 - 47700362 47701109 - 47840963 47841710 - 19123937 643507 ABBA01052409;AL022578;AMYH02039291;NG_010930;NG_021266 RPL7_22_1777 pseudo HGNC:35901 INFERRED 7374591 RPL7P58 ribosomal protein L7 pseudogene 58 X X X p21.3 30832942 30833602 + 26705480 26706140 + 26687363 26688023 + 646346 AC005345;AMYH02039068;NG_009918 pseudo HGNC:49214 INFERRED 7366197 RPL7P59 ribosomal protein L7 pseudogene 59 7 7 7 q35 139411325 139411937 - 144737444 144738056 - 145040351 145040963 - 9847074 643308 ABBA01033549;AC073331;AMYH02016982;NG_011222 pseudo HGNC:49215 INFERRED 7366198 RPL7P60 ribosomal protein L7 pseudogene 60 7 7 7 q22.1 94472601 94473649 - 99737188 99738321 - 100139565 100140698 - 100289264 ABBA01013233;AC073842;AMYH02016374;NG_030267 pseudo HGNC:49216 INFERRED 1605905 RPL7P6 ribosomal protein L7 pseudogene 6 12 12 12 p12.3 24387538 24388358 + 19242065 19242885 + 19089131 19089951 + 19123937 90193 ABBA01067929;AC092828;AMYH02026129;NG_005389 1762249 SHGC-146112 RPL7_20_1216 pseudo HGNC:32430 INFERRED 2304983 RPL7P7 ribosomal protein L7 pseudogene 7 1 1 1 p36.23 7954923 7955745 - 8846188 8847010 - 8786129 8786951 - 19123937 644896 ABBA01035522;AL357552;AMYH02000218;NG_005688 1851452 RH46183 RPL7_1_7 pseudo HGNC:36895 INFERRED 2305847 RPL7P8 ribosomal protein L7 pseudogene 8 1 1 1 p13.3 108459065 108459560 + 110193985 110194480 + 109651363 109651858 + 19123937 441896 ABBA01068380;AC000031;AL355310;AMYH02001713;NG_010218 RPL7_2_84 pseudo HGNC:35914 INFERRED 2305580 RPL7P9 ribosomal protein L7 pseudogene 9 1 1 1 p21.3 95398650 95399482 - 97144364 97145196 - 96678808 96679640 - 11181995;19123937 653702 ABBA01045483;AL357150;AMYH02001528;CH471097;NG_007184 EAW73011 5021962 Rpl7 RPL7_3_75 pseudo HGNC:37028 INFERRED 1349022 RPL8P1 ribosomal protein L8 pseudogene 1 6 6 6 p21 29226382 29226524 - 27620370 27620512 - 27652591 27652733 - 387046 ABBA01038004;AL031229;AMYH02013384;NG_009559 RPL2p;RPL8P;dJ15D7.1 pseudo HGNC:13980 INFERRED 1344976 RPL8P2 ribosomal protein L8 pseudogene 2 21 21 21 q22.11 16818865 16825726 - 31635731 31642591 - 30263413 30270273 - 6480464 100128766 ABBA01057268;AMYH02037700;AP000884;NG_009886 1655338;1735180 D3S2824E;STS-Z28407 pseudo HGNC:17220 INFERRED 2305425 RPL8P3 ribosomal protein L8 pseudogene 3 3 3 3 q23 140969399 140970073 - 142545896 142546570 - 142827054 142827728 - 19123937 100270854 ABBA01059022;AC021074;AMYH02007823;NG_009991 1735180;2140874 D3S2824E;D3S4174 RPL8_1_413 pseudo HGNC:36407 INFERRED 2305368 RPL8P4 ribosomal protein L8 pseudogene 4 3 3 3 q26.31 172494415 172495246 + 174094999 174095830 + 174377209 174378040 + 19123937 402150 ABBA01058622;AC069218;AMYH02008168;NG_011184 RPL8_1_438 pseudo HGNC:35555 INFERRED 2305173 RPL8P5 ribosomal protein L8 pseudogene 5 22 22 22 q11.21 3726882 3727563 + 19874812 19875493 + 19887289 19887970 + 19123937 100271044 ABBA01005403;AC000078;AMYH02038051;NG_011013 RPL8_2_1740 pseudo HGNC:35758 INFERRED 2304856 RPL7P56 ribosomal protein L7 pseudogene 56 X X X q26.3 136236884 136237695 + 135873196 135874007 + 136791037 136791848 + 19123937 728962 ABBA01055945;AL683813;AMYH02040581;NG_010676 RPL7_33_1817 pseudo HGNC:35588 INFERRED 7376542 RPL7P61 ribosomal protein L7 pseudogene 61 2 2 164008761 164009817 - 163152251 163153307 - 101929589 ABBA01004899;AC104697;AMYH02005099 pseudo HGNC:49217 MODEL 2305424 RPL9P10 ribosomal protein L9 pseudogene 10 1 1 1 q42.2 207691616 207692321 + 234420697 234421402 + 234284951 234285656 + 19123937 100270855 ABBA01033093;AL122008;AMYH02002923;NG_009998 RPL9_2_176 pseudo HGNC:35686 INFERRED 2304633 RPL9P11 ribosomal protein L9 pseudogene 11 1 1 1 p36.22 8742410 8743086 + 9636463 9637139 + 9576405 9577081 + 19123937 642740 Q6ZP07 ABBA01035558;AK130277;AL954705;AMYH02000249;NG_006150 BAC85318 Hs.661110 RPL9_1_9 pseudo HGNC:35621 INFERRED 2304423 RPL7P47 ribosomal protein L7 pseudogene 47 16 16 16 p12.3 17569117 17569745 + 18026574 18027202 + 17932717 17933345 + 19123937 146110 ABBA01006941;AC010601;AMYH02031561;NG_004804 RPL7_27_1478 pseudo HGNC:35913 INFERRED 2305450 RPL9P12 ribosomal protein L9 pseudogene 12 1 1 1 p32.3 50943055 50943459 - 52655577 52655981 - 52189905 52190309 - 19123937 100270825 ABBA01074777;AL139156;AMYH02001016;NG_011199 RPL9_1_50 pseudo HGNC:36728 INFERRED 2304964 RPL9P14 ribosomal protein L9 pseudogene 14 2 2 2 q33.3 202658121 202658822 - 208896015 208896716 - 208031291 208031992 - 19123937 100132061 ABBA01062695;AC093698;AMYH02005656;NG_011145 RPL9_3_318 pseudo HGNC:36816 INFERRED 2305423 RPL9P13 ribosomal protein L9 pseudogene 13 2 2 2 q22.1 134201900 134202480 - 140490277 140490857 - 139732708 139733288 - 19123937 100270856 ABBA01028113;AC012497;AMYH02004884;NG_010007 RPL9_2_278 pseudo HGNC:36558 INFERRED 736467 RPL9 ribosomal protein L9 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p13 39893571 39898396 - 39455744 39460568 - 39454124 39458948 - 1580863;6480464;8554872 11790298;12477932;12777385;12962325;14567916;15189156;15489334;15635413;16169070;16189514;16196087;16341674;18029348;18274552;18457437;19738201;19805454;19946888;20020773;20972266;21081666;21139048;21145461;21182205;21890473;21906983;21963094;21987572;22178446;22505724;22586326;22623428;22939629;22944692;23000965;23125841;23246001;23398456;23463506;24332808;24457600;24816145;25015289;8415001;8597601;8722009;9582194 6133 D6RAN4;E7ESE0;H0Y9R4;H0Y9V9;P32969;Q53Z07 AB007169;AB062431;ABBA01004125;AC021148;AK130966;AK297178;AK303908;AK312241;AL832047;AMYH02009054;AY320412;AY376242;AY597415;BC000483;BC004156;BC004206;BC007967;BC012149;BC031906;BC066318;BC070214;BC100285;BG829769;BM841336;BQ286041;CH471069;D14531;D16961;NG_032111;NM_000661;NM_001024921;U09953;U09954;U21138;XM_005262661 AAA63752;AAB01040;AAB01041;AAH00483;AAH04156;AAH04206;AAH07967;AAH12149;AAH31906;AAH66318;AAH70214;AAI00286;AAP73811;AAQ82909;ABM83653;ABM83885;ABM86900;BAA03401;BAA25830;BAB93494;BAG35174;BAG59670;BAG64837;CAH10410;EAW92926;EAW92927;EAW92928;EAW92929;EAW92930;EAW92931;NP_000652;NP_001020092;P32969;XP_005262718 Hs.412370;Hs.513083;Hs.730597 1653613;5021155;5124095 D4S3187;RH67836;SHGC-59408 DKFZp313J1510;FLJ27456;L9;MGC15545;NPC-A-16;RPL9P7;RPL9P8;RPL9P9 60S ribosomal protein L9;OTTHUMP00000125205;OTTHUMP00000218426;OTTHUMP00000218427;OTTHUMP00000218428;OTTHUMP00000218429 APPROVED protein-coding ENSG00000163682 HGNC:10369 04732 603686 REVIEWED 2305422 RPL9P15 ribosomal protein L9 pseudogene 15 3 3 3 q25.2 152814823 152815367 - 154394377 154394921 - 154676588 154677132 - 19123937 100270857 ABBA01058869;AC117485;AMYH02007946;NG_010012 RPL9_4_422 pseudo HGNC:35539 INFERRED 2305707 RPL9P18 ribosomal protein L9 pseudogene 18 6 6 6 q12 62486196 62486853 - 64325641 64326298 - 63615736 63616393 - 19123937 389404 ABBA01023956;AL513043;AMYH02013815;NG_010148 RPL9_6_709 pseudo HGNC:36954 INFERRED 2304975 RPL9P19 ribosomal protein L9 pseudogene 19 7 7 7 p21.3 8948500 8949183 + 8978401 8979084 + 8938771 8939454 + 19123937 100129634 ABBA01056533;AC009500;AMYH02015211;CH236948;NG_010510 RPL9_4_783 pseudo HGNC:36688 INFERRED 2305351 RPL9P17 ribosomal protein L9 pseudogene 17 5 5 5 p13.3 31702804 31703508 - 31822567 31823271 - 31822460 31823164 - 19123937 728523 ABBA01066723;AC010469;AMYH02011115;NG_011050;NG_033962 RPL9_5_548 pseudo HGNC:36337 INFERRED 1351822 RPL9P2 ribosomal protein L9 pseudogene 2 17 17 17 p12 15371466 15372142 + 15346927 15347603 + 15443613 15444289 + 19123937;9027492 729004 ABBA01055043;AC005517;AMYH02033051;NG_009558 RPL9_10_1518 pseudo HGNC:17049 INFERRED 2305501 RPL9P21 ribosomal protein L9 pseudogene 21 10 10 10 q11.21 40913115 40913902 - 44909863 44910650 - 44414415 44415202 - 19123937 728374 ABBA01050019;AL355141;AMYH02022724;NG_010286 RPL9_8_1037 pseudo HGNC:35886 INFERRED 2304347 RPL9P20 ribosomal protein L9 pseudogene 20 8 8 8 p22 15973855 15974561 - 17007712 17008418 - 17150203 17150909 - 19123937 100130392 ABBA01021586;AC079193;AMYH02017526;NG_010461 RPL9_7_879 pseudo HGNC:36996 INFERRED 2305672 RPL9P23 ribosomal protein L9 pseudogene 23 11 11 11 p12 41711063 41713922 + 41557675 41560536 + 41536125 41538986 + 19123937 100131020 ABBA01060801;AC021006;AMYH02024662;NG_011057 RPL9_5_1139 pseudo HGNC:36807 INFERRED 2304480 RPL9P22 ribosomal protein L9 pseudogene 22 11 11 11 q14.1 81660351 81661045 + 84351008 84351702 + 84639965 84640659 + 19123937 100130066 ABBA01017346;AMYH02025206;AP000852;NG_010079;NG_021375 RPL9_6_1163 pseudo HGNC:36994 INFERRED 2305172 RPL9P24 ribosomal protein L9 pseudogene 24 12 12 12 q23.2 101994007 101994465 + 102329994 102330452 + 101936216 101936674 + 19123937 100271045 ABBA01053233;AC084398;AMYH02027077;NG_011017 RPL9_7_1272 pseudo HGNC:36347 INFERRED 2305109 RPL9P25 ribosomal protein L9 pseudogene 25 15 15 15 q22.31 43561608 43562307 - 66671576 66672275 - 66379238 66379937 - 19123937 654350 ABBA01038824;AC055855;AMYH02030645;NG_010052 RPL9_13_1445 pseudo HGNC:36112 INFERRED 2305680 RPL9P16 ribosomal protein L9 pseudogene 16 4 4 4 q32.3 167008192 167008875 + 169676949 169677632 + 168755798 168756481 + 19123937 727835 ABBA01070332;AC080188;AMYH02010476;NG_010139;NG_013376 RPL9_3_534 pseudo HGNC:36851 INFERRED 2304938 RPL9P26 ribosomal protein L9 pseudogene 26 15 15 15 q11.2-q12 5257800 5258296 - 27096261 27096757 - 26851114 26851610 - 19123937 100271227 ABBA01048710;AC135999;AMYH02030113;NG_010635 RPL9_11_1421 pseudo HGNC:35633 INFERRED 2305600 RPL9P27 ribosomal protein L9 pseudogene 27 15 15 15 q15.1 17538980 17539679 - 40772850 40773549 - 40480651 40481350 - 19123937 100131246 ABBA01038449;AC013356;AMYH02030241;NG_010904 RPL9_12_1427 pseudo HGNC:37012 INFERRED 2304624 RPL9P28 ribosomal protein L9 pseudogene 28 17 17 17 q21.32 43222527 43223228 - 46768379 46769080 - 48691017 48691718 - 19123937 729146 ABBA01041174;AC091179;AMYH02033544;NG_009675 RPL9_16_1554 pseudo HGNC:36445 INFERRED 735772 RPL8 ribosomal protein L8 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding of aminoacyl-tRNA, and is a constituent of the elongation factor 2-binding site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding the same protein exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 142192658 142195309 - 146015152 146017805 - 144789769 144792420 - 724582;6480464 7506540 11790298;11875025;12477932;12777385;12962325;14567916;14743216;15064750;15189156;15231747;15489334;15576338;15592455;15635413;16169070;16196087;17361185;18274552;18457437;18781797;19449377;19596686;19738201;19946888;20020773;21139048;21145461;21182205;21319273;21890473;21900206;21906983;21963094;21987572;21988832;22268729;22505724;22586326;22623428;22863883;22939629;23000965;23084401;23125841;23151878;23246001;23398456;23443559;23463506;24244333;24250222;24457600;24583282;24657165;24816145;25027693;8722009;9531480;9582194 6132 E9PKU4;E9PKZ0;E9PP36;G3V1A1;H0YF23;P62917 AB007168;AB061821;ABBA01005195;AF235103;AK289459;AK301073;AK309619;AMYH02019018;BC000047;BC000077;BC012197;BC013104;BC030151;BC093064;BT007379;CH471162;CR457046;NM_000973;NM_033301;Z28407 AAH00047;AAH00077;AAH12197;AAH13104;AAH93064;AAP36043;ABM84235;ABW03354;BAA25829;BAB79459;BAF82148;BAG62679;CAA82248;CAG33327;EAW82047;EAW82048;EAW82049;EAW82050;EAW82051;EAW82052;EAW82053;EAW82054;NP_000964;NP_150644;P62917 Hs.178551 1655338;1735180;2140874;2186859 D3S2824E;D3S4174;STS-Z28407;UniSTS:70780 L8 60S ribosomal protein L8;OTTHUMP00000229065;OTTHUMP00000229066;OTTHUMP00000229067;OTTHUMP00000229068;OTTHUMP00000229069;OTTHUMP00000229071;OTTHUMP00000229072 APPROVED protein-coding ENSG00000161016 HGNC:10368 16044 604177 REVIEWED 2303465 RPL9P3 ribosomal protein L9 pseudogene 3 14 14 14 q13.2 15595469 15596168 + 35731639 35732338 + 35262433 35263132 + 19123937 641616 ABBA01061501;AL121594;AMYH02029006;NG_009539 RPL9_8_1354 pseudo HGNC:23555 INFERRED 2305339 RPL9P29 ribosomal protein L9 pseudogene 29 17 17 17 q25.3 73439710 73440957 - 76841990 76843245 - 78845908 78847163 - 19123937 100129357 ABBA01002914;AC022966;AMYH02034074;NG_010416 RPL9_17_1576 pseudo HGNC:35533 INFERRED 2304937 RPL9P31 ribosomal protein L9 pseudogene 31 18 18 18 q21 53014123 53014531 + 56298490 56299003 + 58631258 58631771 + 19123937 100271228 ABBA01056153;AC104971;AMYH02034812;NG_010640 RPL9_12_1606 pseudo HGNC:36617 INFERRED 2305647 RPL9P30 ribosomal protein L9 pseudogene 30 17 17 17 q11.2 25043026 25043711 + 28182753 28183438 + 29855735 29856420 + 19123937 100128710 ABBA01015008;AC104982;AMYH02033262;NG_011028 RPL9_11_1536 pseudo HGNC:36316 INFERRED 2305679 RPL9P32 ribosomal protein L9 pseudogene 32 19 19 19 q12 27140901 27141608 - 30447213 30447920 - 29956306 29957013 - 19123937 727865 ABBA01039560;AC008507;AMYH02035891;NG_010302 RPL9_18_1643 pseudo HGNC:36418 INFERRED 2304936 RPL9P33 ribosomal protein L9 pseudogene 33 19 19 19 q13.3 49175477 49176036 + 52124395 52124954 + 51621142 51621701 + 19123937 100271229 ABBA01068268;AC018755;AMYH02036386;NG_010645 RPL9_13_1663 pseudo HGNC:36273 INFERRED 2303464 RPL9P4 ribosomal protein L9 pseudogene 4 14 14 14 q12 11797297 11797873 - 31931589 31932628 - 31462383 31463422 - 19123937 644223 ABBA01061423;AL163973;AMYH02028955;NG_009540 RPL9_9_1348 pseudo HGNC:23556 INFERRED 2301777 RPL9P5 ribosomal protein L9 pseudogene 5 14 14 14 q23.1 39080771 39081451 + 59030776 59031456 + 58564058 58564738 + 19123937 100129179 ABBA01018262;AL135752;AMYH02029283;NG_008795 RPL9_9_1374 pseudo HGNC:23557 INFERRED 1347716 RPL9P7 ribosomal protein L9 pseudogene 7 p22.1 19123937;8597601 317771 AC131011;NG_002471 RPL9L1;RPL9P1;RPL9_19_1768 pseudo HGNC:30335 1345128 RPL9P6 ribosomal protein L9 pseudogene 6 14 14 14 q31.1 62284919 62285632 - 82243264 82243977 - 81776920 81777633 - 19123937 326311 ABBA01030604;AL160192;AMYH02029633;NG_002563 RPL9_10_1398 pseudo HGNC:19798 INFERRED 1348949 RPL9P7 ribosomal protein L9 pseudogene 7 15 X X p22.1 59602040 59602735 - 23854761 23855463 - 23836644 23837346 - 19123937;8597601 6126 ABBA01072243;AC131011;AMYH02039035;NG_001192;NG_013219;U09955 RPL9L1;RPL9P1;RPL9_19_1768 APPROVED pseudo HGNC:30335 INFERRED 2303839 RPL9P9 ribosomal protein L9 pseudogene 9 15 15 q25.2 59602038 59602741 - 82664415 82665118 - 19123937 388147 AC139425;NG_003190 RPL9_14_1458 pseudo HGNC:17251 INFERRED 1606671 RPL9P8 ribosomal protein L9 pseudogene 8 15 15 15 q25.2 59602038 59602741 - 83040956 83041659 - 82372211 82372914 - 19123937;8597601;9847074 254948 ABBA01009561;AC011295;AC139425;AC243919;NG_002468 RPL9P9;RPL9_14_1458;RPL9_15_1459 pseudo HGNC:30334 INFERRED 1344936 RPLP0P1 ribosomal protein, large, P0 pseudogene 1 INTERACTS WITH arsane; arsenic atom 20 20 20 p12.1 16642087 16642542 - 16566978 16567433 - 16586333 16586788 - 6480464 128745 ABBA01054015;AL049794;AMYH02036755;NG_000973 dJ777L9.2 pseudo HGNC:16585 INFERRED 2304871 RPLP0P10 ribosomal protein, large, P0 pseudogene 10 15 15 15 q15.1 17370468 17371546 - 40604485 40605563 - 40312284 40313362 - 19123937 390578 ABBA01038454;AC020658;AMYH02030236;NG_010925 RPLP0_5_1426 pseudo HGNC:35991 INFERRED 2305226 RPLP0P11 ribosomal protein, large, P0 pseudogene 11 18 18 18 q21.1 44840870 44841915 + 47984184 47985229 + 50457814 50458859 + 19123937 647094 ABBA01018670;AC013759;AC090638;AMYH02034703;NG_010949 RPLP0_4_1600 pseudo HGNC:36572 INFERRED 2303346 RPLP0P3 ribosomal protein, large, P0 pseudogene 3 14 14 14 q13.2 15721134 15722225 - 35857261 35858352 - 35388055 35389146 - 19123937;22108332;22118674 122589 ABBA01061503;AL133163;AMYH02029007;NG_009485 RPLP0_4_1355 pseudo HGNC:23558 INFERRED 2304373 RPLP0P4 ribosomal protein, large, P0 pseudogene 4 1 1 1 q21.3 126267985 126269050 + 153197483 153198548 + 153225007 153226072 + 17975119;19023099;19123937 391102 ABBA01049433;AL161636;AMYH02001902;NG_010984 RPLP0_1_100 pseudo HGNC:36489 INFERRED 2304376 RPLP0P6 ribosomal protein, large, P0 pseudogene 6 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN ribosome biogenesis (inferred); translational elongation (inferred); FOUND IN ribosome (inferred) 2 2 2 p22.1 38549957 38551058 + 38708917 38710017 + 38481775 38482875 + 6480464 18029348;19123937;21110914;21906983;22108332;22118674;22939629;24816145 220717 Q8NHW5 ABBA01075003;AC011247;AMYH02003626;AY064377;CH471053;NG_009952 AAL62450;EAX00373;Q8NHW5 RPLP0_2_209 pseudo HGNC:36404 INFERRED 2305728 RPLP0P5 ribosomal protein, large, P0 pseudogene 5 1 1 1 q41 193709143 193710231 - 220489937 220491025 - 220316595 220317683 - 19123937 643779 ABBA01048080;AL451081;AMYH02002731;NG_011009 RPLP0_1_167 pseudo HGNC:35620 INFERRED 2305171 RPLP0P7 ribosomal protein, large, P0 pseudogene 7 2 2 2 q24.1 151247466 151248152 - 157634204 157634890 - 156777692 156778378 - 19123937 100271047 ABBA01004842;AC021849;AMYH02005036;NG_011029 RPLP0_2_288 pseudo HGNC:36578 INFERRED 2305643 RPLP0P8 ribosomal protein, large, P0 pseudogene 8 3 3 3 p14.1 68618880 68619784 - 68682646 68683550 - 68633495 68634399 - 19123937 100131151 ABBA01030895;AC096922;AMYH02007009;NG_010425 RPLP0_3_381 pseudo HGNC:35867 INFERRED 1344368 RPLP0 ribosomal protein, large, P0 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 12 12 12 q24.2 120267618 120272129 - 120634502 120639014 - 120196700 120201211 - 1580863;6480464 10856704;11277934;11401437;11790298;12477932;12479870;12962325;14567916;14702039;14729942;15047060;15064750;15121898;15161933;15189156;15231748;15302935;15303970;15336536;15489334;15592455;1602151;16055720;16169070;16196087;16263121;16541075;16565220;16807684;17081983;17289661;17361185;17620599;17621266;17643375;18029348;18259216;18364388;18781797;19188445;19287380;19380743;19710015;19738201;19805454;19946888;20020773;20085233;20308691;20462248;20705598;21040949;21081666;21139048;21145461;21182203;21182205;21319273;21575865;21726808;21853274;21890473;21906983;21942715;21963094;21987572;21988832;22053931;22108332;22113938;22118674;22505724;22586326;22623428;22797925;22863883;22939629;23000965;23125841;23246001;23398456;23400861;23402259;23443559;23463506;23862649;23874603;24244333;24332808;24591637;24657165;24816145;25015289;25027693;3323886;6182142;7821789;8125298;8722009;8895530;9582194;9847074 6175 F8VPE8;F8VQY6;F8VRK7;F8VS58;F8VU65;F8VW21;F8VWS0;F8VWV4;F8VYN4;F8VZS0;F8W1K8;G3V210;P05388 AB007187;ABBA01020098;AC004263;AF274958;AK001313;AK129754;AK129823;AK222468;AK222571;AK291109;AK304674;AMYH02027364;AX876475;BC000087;BC000345;BC000752;BC001127;BC001834;BC003655;BC005863;BC008092;BC008594;BC009867;BC015173;BC015690;BC019014;BC070194;BC104645;BC107717;BF131912;CH471054;D28418;M17885;NM_001002;NM_053275;Z36785 AAA36470;AAC05176;AAH00087;AAH00345;AAH00752;AAH01127;AAH01834;AAH03655;AAH05863;AAH08092;AAH08594;AAH09867;AAH15173;AAH15690;AAH70194;AAI04646;AAI07718;AAK07533;ABM82739;ABM85922;BAA05784;BAA25845;BAD96188;BAD96291;BAF83798;BAG65447;CAE89292;EAW98170;EAW98171;EAW98172;EAW98173;EAW98174;NP_000993;NP_444505;P05388 Hs.546285 1792452;1795154;1851073;2116473;5018953;5019367;5021592 A007I44;D12S1979;G42236;PMC120577P1;PMC151625P1;PMC99906P1;RP_P0_1 L10E;LP0;MGC111226;MGC88175;P0;PRLP0;RPP0 60S acidic ribosomal protein P0;60S ribosomal protein L10E;OTTHUMP00000240766;OTTHUMP00000240767;OTTHUMP00000240768;OTTHUMP00000240776;OTTHUMP00000240777;OTTHUMP00000240826;OTTHUMP00000240834;acidic ribosomal phosphoprotein P0 APPROVED protein-coding ENSG00000089157 HGNC:10371 01610 180510 REVIEWED 1343443 RPLP1P1 ribosomal protein, large, P1 pseudogene 1 14 14 14 q24.3 57473472 57474100 + 77434898 77435526 + 76968555 76969183 + 19123937 145499 ABBA01030664;AC007686;AMYH02029561;NG_002526 RPLP1_4_1394 pseudo HGNC:19793 INFERRED 2304802 RPLP1P10 ribosomal protein, large, P1 pseudogene 10 10 10 10 q11 54114222 54114550 - 60848456 60848784 - 59088696 59089024 - 19123937 100271346 ABBA01019444;AC016398;AMYH02023159;NG_011249 RPLP1_6_1047 pseudo HGNC:35509 INFERRED 2305668 RPLP1P11 ribosomal protein, large, P1 pseudogene 11 17 17 17 p12 15850827 15851331 + 15947806 15948310 + 16044492 16044996 + 19123937 100131087 ABBA01035665;AC002553;AMYH02033064;NG_010056 RPLP1_5_1519 pseudo HGNC:36196 INFERRED 2305582 RPLP1P12 ribosomal protein, large, P1 pseudogene 12 19 19 19 q13.42 51319821 51320277 + 54278724 54279180 + 53775470 53775926 + 19123937 646566 ABBA01068200;AC008753;AMYH02036431;NG_010867 RPLP1_6_1670 pseudo HGNC:36858 INFERRED 6481215 RPLP1P13 ribosomal protein, large, P1 pseudogene 13 13 13 23947562 23948155 + 23373423 23374016 + 100874124 ABBA01007874;AL157766;AMYH02027693;NG_032385 pseudo HGNC:41973 INFERRED 2304625 RPLP1P2 ribosomal protein, large, P1 pseudogene 2 1 1 1 q43 214418171 214418629 - 241161709 241162167 - 240998409 240998867 - 19123937 729138 ABBA01033245;AL590682;AMYH02003030;NG_006638 2153403;5094134 G54565;SHGC-30220 RPLP1_2_185 pseudo HGNC:36210 INFERRED 2304401 RPLP1P3 ribosomal protein, large, P1 pseudogene 3 1 1 1 q24.3 144903149 144903499 - 171793742 171794181 - 171824602 171825041 - 19123937 127099 ABBA01027923;AL031864;AMYH02002144;NG_010637 RPLP1_1_124 pseudo HGNC:36870 INFERRED 2305535 RPLP1P4 ribosomal protein, large, P1 pseudogene 4 2 2 2 q31.1 170674758 170675292 - 177065599 177066109 - 176200871 176201381 - 19123937 100129028 ABBA01062220;AC016739;AMYH02005298;NG_009587 RPLP1_3_298 pseudo HGNC:36939 INFERRED 2304387 RPLP1P6 ribosomal protein, large, P1 pseudogene 6 5 5 5 q33.1 147226812 147227320 - 151145421 151145929 - 151765860 151766368 - 11181995;19123937 729416 ABBA01026261;AC091982;AMYH02012474;CH471062;NG_005982 EAW61665 RPLP1_5_629 pseudo HGNC:35809 INFERRED 2305560 RPLP1P5 ribosomal protein, large, P1 pseudogene 5 2 2 2 p24.3 15927623 15928093 + 16009934 16010404 + 15869810 15870280 + 19123937 130678 AC113608;AMYH02003316;CH471053;NG_010614 EAX00892 RPLP1_1_196 pseudo HGNC:35842 INFERRED 2305646 RPLP1P8 ribosomal protein, large, P1 pseudogene 8 6 6 6 q23.3 137425599 137426097 + 136685138 136685636 + 136364000 136364498 + 19123937 100128745 ABBA01025828;AL023284;AMYH02014554;NG_011205 RPLP1_2_758 pseudo HGNC:36104 INFERRED 2305170 RPLP1P9 ribosomal protein, large, P1 pseudogene 9 8 8 8 p21-p11.2 25592267 25592600 + 26629313 26629646 + 26771796 26772129 + 19123937 100271049 ABBA01005577;AC091675;AMYH02017665;NG_011038;NG_029395 RPLP1_3_885 pseudo HGNC:36069 INFERRED 1345554 RPLP2P1 ribosomal protein, large P2, pseudogene 1 6 6 6 p22.1 29538991 29539272 + 27932953 27933234 + 27965175 27965456 + 19123937 442175 ABBA01038012;AL133267;AMYH02013391;CH471081;NG_010333 EAX03128 1791005;7184142 D6S2222 RPLP2_1_671;dJ408B20.3 pseudo HGNC:18724 INFERRED 2305586 RPLP2P2 ribosomal protein, large, P2 pseudogene 2 5 5 5 q33.3 153388102 153388543 - 157358187 157358628 - 157931179 157931620 - 19123937 644198 ABBA01044262;AC008677;AMYH02012561;NG_010527 RPLP2_1_633 pseudo HGNC:36590 INFERRED 735289 RPLP2 ribosomal protein, large, P2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 876486 879425 + 808841 827592 + 809936 812876 + 1580863;6480464 10508479;10856704;11401437;11875025;12379128;12477932;12479870;1286669;12962325;14567916;14729942;14981896;14997482;15064750;15146197;15161933;15189156;15489334;15492215;15635413;16196087;16565220;16807684;16920697;16964243;17081983;17620599;18422483;18675807;19135240;19471022;19738201;19946888;20000738;20385603;20639865;20972266;21040949;21139048;21145461;21319273;21410706;2153399;21890473;21906983;21963094;21988832;22053931;22268729;22505724;22586326;22863883;22909382;22939629;23000965;23246001;23398456;23400861;23443559;23463506;24583282;24654937;25015289;3323886;7821789;8076819;8722009 6181 H0YDD8;P05387 AB061837;ABBA01015211;AK311954;AMYH02024152;AP006621;BC005354;BC005920;BC007573;BC062314;CH471158;CN270352;CR542212;CR542248;D17005;D17174;D28411;M17887;NM_001004 AAA36472;AAH05354;AAH05920;AAH07573;AAH62314;BAA05777;BAB79475;BAG34894;CAG47008;CAG47044;EAX02393;EAX02394;NP_000995;P05387 Hs.437594 2138328;2145098 D11S2243E;D11S4393 D11S2243E;LP2;MGC71408;P2;RPP2 60S acidic ribosomal protein P2;OTTHUMP00000164440;OTTHUMP00000229016;OTTHUMP00000229975;acidic ribosomal phosphoprotein P2;renal carcinoma antigen NY-REN-44;ribosomal protein, large p2 APPROVED protein-coding HGNC:10377 01612 180530 REVIEWED 2305659 RPLP2P3 ribosomal protein, large, P2 pseudogene 3 11 11 11 q22.3 104933480 104933935 + 107779073 107779528 + 107908347 107908802 + 19123937 643949 ABBA01039874;AMYH02025539;AP001024;NG_010565 RPLP2_2_1170 pseudo HGNC:36494 INFERRED 2304801 RPLP2P4 ribosomal protein, large, P2 pseudogene 4 12 12 12 p11.21 11872553 11872862 + 32050754 32051063 + 31897820 31898129 + 19123937 100271347 ABBA01031731;AC023050;AMYH02026288;NG_011258 RPLP2_3_1225 pseudo HGNC:36837 INFERRED 2304800 RPLP2P5 ribosomal protein, large, P2 pseudogene 5 17 17 17 q23.2 54846047 54846523 + 60458957 60459413 + 62381596 62382052 + 19123937 100271348 ABBA01035355;AC008026;AMYH02033762;NG_011348 2145098 D11S4393 RPLP2_4_1568 pseudo HGNC:35706 INFERRED 1346051 RPP21 ribonuclease P/MRP 21kDa subunit RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM, Jan 2009] 6 6 6 p22.1 31911132 31912827 + 30312897 30314635 + 30345129 30346858 + 6480464;8554872 11455963;11497433;12477932;14702039;15096576;15489334;16344560;17207965;17601797;18291362;19851445;21906983 79897 Q9H633 ABBA01038041;AF212152;AJ504713;AJ504714;AJ504715;AJ504716;AK026291;AL662795;AL662832;AL773535;AMYH02013430;BC011730;BG708140;BI598757;BX294158;BX927214;CH471081;CR759281;CR759928;DA270919;NM_001199120;NM_001199121;NM_024839 AAH11730;AAK39955;ADQ32798;BAB15433;CAD44289;CAD44290;CAD44291;CAD44292;EAX03287;EAX03288;EAX03289;NP_001186049;NP_001186050;NP_079115;Q9H633 Hs.183232 5016785 RH94264 C6orf135;CAT60;FLJ22638 OTTHUMP00000029321;OTTHUMP00000029323;OTTHUMP00000163580;OTTHUMP00000163581;RNaseP protein p21;ribonuclease P protein subunit p21;ribonuclease p 21kda subunit;ribonucleoprotein V APPROVED protein-coding ENSG00000241370 HGNC:21300 15275 612524 VALIDATED 1313231 RPP25 ribonuclease P/MRP 25kDa subunit ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN RNA phosphodiester bond hydrolysis, endonucleolytic (inferred); tRNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; afimoxifene; aflatoxin B1 15 15 15 q24.2 52197836 52200168 - 75247443 75249775 - 74955102 74957434 - 737633;1580863;6480464;6907045 12477932 12003489;14702039;15096576;15489334;16344560;17207965;18029348;20215441;20632321;21044950;22863883 54913 Q9BUL9 ABBA01060511;AC015720;AK000381;AMYH02030805;AY034074;BC002497;BC007270;BE254727;CH471136;DA041068;NM_017793 AAH02497;AAH07270;AAK54443;ADQ32678;BAA91128;EAW99285;EAW99286;NP_060263;Q9BUL9 Hs.8562 2146627;2167259 D15S1180;D15S1353 FLJ20374 OTTHUMP00000183483;RNase P protein subunit p25;ribonuclease P 25kDa subunit;ribonuclease P protein subunit p25 protein-coding HGNC:30361 15276 VALIDATED 2304993 RPLP1P7 ribosomal protein, large, P1 pseudogene 7 5 5 5 q23.2 121920288 121920757 - 125963671 125964140 - 126627979 126628448 - 11181995;19123937 133609 ABBA01068900;AC099513;AMYH02012141;CH471086;NG_006940 EAW48849 RPLP1_4_611 pseudo HGNC:36156 INFERRED 736952 RPLP1 ribosomal protein, large, P1 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1 protein can interact with P0 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Two alternatively spliced transcript variants that encode different proteins have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 15 15 15 q22 46633950 46636675 + 69745159 69747884 + 69452820 69455545 + 1580863;6480464 10856704;11277934;11401437;11875025;12054647;12477932;12479870;12962325;14567916;14729942;14997482;15047060;15189156;15489334;16094384;16097034;16169070;16226712;16341674;16541025;16565220;16807684;16964243;17081983;17620599;18029348;18422483;18675807;18781797;19471022;20639865;21040949;21139048;21145461;21642987;21693764;21900206;21963094;21988832;22113938;22586326;22863883;22909382;22939629;23246001;23400861;23402259;23770605;23798571;24250222;24292274;24457600;3323886;7821789;8722009 6176 H0YL57;P05386 AB061836;ABBA01038768;AC027237;AK026579;AK130958;AMYH02030698;AY303789;BC003369;BC007590;BM745938;CH471082;CR450339;CR542209;D28366;M17886;NM_001003;NM_213725 AAA36471;AAH03369;AAH07590;AAP68820;BAA05732;BAB79474;CAG29335;CAG47005;EAW77843;EAW77844;EAW77845;NP_000994;NP_998890;P05386 Hs.356502 2190785;5020351 D15S1202;RPLP1 FLJ27448;LP1;MGC5215;P1;RPP1 60S acidic ribosomal protein P1;OTTHUMP00000164511;OTTHUMP00000210459;acidic ribosomal phosphoprotein P1 APPROVED protein-coding ENSG00000137818 HGNC:10372 01611 180520 REVIEWED 731637 RPN1 ribophorin I This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [provided by RefSeq, Jul 2008] 3 3 3 q21.3 126767445 126799199 - 128338813 128369719 - 128619970 128650876 - 1580863;6480464;6907045;8554872 10588643;10660554;10737800;12198498;12200120;12477932;12643545;12840049;12887896;15489334;15835887;16169070;16196087;16335966;16713569;16990800;17081065;17264154;17314511;17353931;17558393;18264092;18607003;18711132;18781797;19064571;19167329;19322201;19596235;19615732;19706418;19738201;19815544;19946888;20305087;20473970;21081666;21139048;21145461;21182205;21738480;21890473;21906983;21963094;21987572;22190034;22268729;22304920;22505724;22678362;22751105;22797925;22939629;22988243;22990118;23000965;23125841;23166591;23246001;23314186;23383273;23464991;23606741;23798571;23956138;24337577;24457600;24583282;24639526;24654937;24816145;25027693;3034581;8125298;9307271 6184 B7Z4L4;F8WF32;P04843 ABBA01020902;AC079945;AK223595;AK296905;AK297513;AK297941;AK312369;AMYH02007623;BC007995;BC010839;BF930946;BG720812;CH471052;CQ834258;CQ834296;CR456742;CR749284;NM_002950;Y00281 AAH07995;AAH10839;ADZ15548;BAD97315;BAG35287;BAG59461;BAG60257;BAH12600;CAA68392;CAG33023;CAH05344;CAH05363;CAH18139;EAW79306;EAW79307;EAW79308;EAW79309;NP_002941;P04843 Hs.518244;Hs.603636 1741463;2119126;2154662;2160589 D3S3891;GDB:181226;RH11540;RH48451 DKFZp686B16177;OST1;RBPH1;RPN-I OTTHUMP00000216245;OTTHUMP00000216575;dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit;dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1;dolichyl-diphosphooligosaccharide-protein glycosyltransferase 67 kDa subunit;oligosaccharyltransferase 1 homolog;oligosaccharyltransferase complex subunit (non-catalytic);ribophorin-1 APPROVED protein-coding ENSG00000163902 HGNC:10381 01598 180470 REVIEWED 1313464 RPP14 ribonuclease P/MRP 14kDa subunit ENCODES a protein that exhibits lyase activity (inferred); ribonuclease P activity (inferred); RNA binding (inferred); INVOLVED IN fatty acid metabolic process (inferred); RNA phosphodiester bond hydrolysis, endonucleolytic (inferred); tRNA processing (inferred); FOUND IN mitochondrion (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 p14.3 58306525 58320475 + 58291972 58305920 + 58306245 58320193 + 1580863;6480464 10024167;11158571;11181995;11455963;11929972;12477932;14702039;15096576;15146197;15342556;15489334;15635413;16169070;16344560;19322201;21139048;21900206;24250222;24390342 11102 O95059;P86397 ABBA01024389;ABBA01024390;AC098479;AF001175;AI566526;AK311396;AK311969;AMYH02006887;AV760694;BC002441;BC007342;BC012017;BP352444;BP352480;CD698741;CH471055;CN354601;CR407611;DA040251;DC303206;DC360931;NM_001098783;NM_007042;NR_049755;NR_049756;NR_049757;NR_049758 AAD00892;AAH02441;AAH07342;AAH12017;ADZ15714;BAG34908;CAG28539;NP_001092253;NP_008973;O95059 Hs.446320;Hs.700016 1651101;1698736;1849105;2219652;5015551;5037552 D3S4258;D8S2279;RH102930;RH36448;RPP14__5526;STS-W15453 FLJ31508;P14 OTTHUMP00000214187;OTTHUMP00000214188;OTTHUMP00000214189;ribonuclease P (14kD);ribonuclease P protein subunit p14 protein-coding ENSG00000163684 HGNC:30327 18001 606112 VALIDATED 1347599 RPLP0P2 ribosomal protein, large, P0 pseudogene 2 11 11 11 cen-q12 58717910 58742320 + 61382508 61406921 + 61615036 61639449 + 12477932;14702039;19123937;22108332;22118674;25089627 113157 ABBA01003203;ABBA01003204;AK095332;AMYH02024881;AMYH02024882;AP002754;AY672101;BC010523;KF459760;NR_002775 Hs.502733 1731285;5016596;5019367;5021592;5022463;5037552 D11S734;D12S1979;D3S1673;D8S2279;GDB:631802;PMC120577P1 RPLP0L2;RPLP0_3_1146 pseudo ENSG00000243742 HGNC:17960 PROVISIONAL 1321878 RPP30 ribonuclease P/MRP 30kDa subunit ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN RNA phosphodiester bond hydrolysis (inferred); RNA phosphodiester bond hydrolysis, endonucleolytic (inferred); tRNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; FOUND IN nucleolar ribonuclease P complex (inferred); nucleus (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 10 10 10 q23.31 86378161 86414769 + 92631709 92668312 + 90871952 90908555 + 1580863;6480464;6907045 11455963;12477932;14702039;15096576;15164054;15489334;15635413;16344560;16385451;17033964;17081983;17314511;19454010;21139048;21145461;21163940;21693764;21890473;21906983;21963094;22566634;22863883;22939629;22990118;23000965;23667531;24250222;24778252;24816145;8125298;8889548;9037013;9308968;9630247 10556 P78346;Q5VU10;Q5VU11 ABBA01021931;AK095810;AK225532;AK296196;AK312900;AL360011;AL590622;AL833628;AMYH02023518;BC006991;BC044601;BM978236;CH471066;DB049454;NM_001104546;NM_006413;U77665;XM_006717546 AAC51143;AAH06991;ABM84107;ABM87487;BAG35746;BAG58925;EAW50117;NP_001098016;NP_006404;P78346;XP_006717609 Hs.139120 1674079;1715621;1847208;1849654;2136701;5022651;5037552 A007J42;D11S2921;D8S2279;RH119253;SGC30252;SHGC-37185;STS-N37073 FLJ38491;RP11-320F15.1;TSG15 OTTHUMP00000020081;OTTHUMP00000020082;OTTHUMP00000020083;RNase P subunit 2;RNaseP protein p30;ribonuclease P (30kD) (RPP30);ribonuclease P protein subunit p30 protein-coding ENSG00000148688 HGNC:17688 09359 606115 VALIDATED 1315272 RPP25L ribonuclease P/MRP 25kDa subunit-like This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 34541995 34543604 - 34610482 34612110 - 34610485 34612113 - 6480464 12477932;15164053;15489334;16998185;17207965;17213182;21139048;21145461;21890473 138716 Q8N5L8 ABBA01065009;AI016726;AL160270;AL528391;AMYH02019450;BC032136;BQ021160;BQ224958;CH471071;CS072470;DT218980;NM_148178;NM_148179 AAH32136;ADQ32255;CAI93608;EAW58443;EAW58444;NP_680544;NP_680545;Q8N5L8 Hs.15961 1684536;1848229;1848948;2117452;2177562;5093718 A009V29;Bdac7f05;G32883;RH36230;RH41883;WI-14194 C9orf23;MGC29635;bA296L22.5 OTTHUMP00000000513;OTTHUMP00000000514;RNase P protein subunit-like p25;alba-like protein C9orf23;ribonuclease P protein subunit p25-like protein;rpp25-like protein APPROVED protein-coding ENSG00000164967 HGNC:19909 12948 VALIDATED 6481179 RPP40P1 ribonuclease P/MRP 40kDa subunit pseudogene 1 X X 25609539 25609934 - 25591422 25591817 - 100874225 ABBA01072443;AC112918;AMYH02039061;NG_032356 pseudo HGNC:39769 INFERRED 5130583 RPP40P2 ribonuclease P/MRP 40kDa subunit pseudogene 2 13 13 13 40795499 40796047 + 59836979 59837527 + 59262845 59263393 + 100420608 ABBA01036999;AL159156;NG_024931 pseudo HGNC:39770 INFERRED 1321008 RPP40 ribonuclease P/MRP 40kDa subunit ENCODES a protein that exhibits ribonuclease P activity (inferred); INVOLVED IN RNA phosphodiester bond hydrolysis (inferred); RNA phosphodiester bond hydrolysis, endonucleolytic (inferred); tRNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; FOUND IN nucleolar ribonuclease P complex (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; cyclosporin A 6 6 6 p25.1 6224004 6232997 - 4995280 5004292 - 4995046 5004063 - 1580863;6480464;6907045 12477932;15096576;16341674;19460752;21053045;21139048;21963094;22863883;22939629;24654937;8889548;9630247 10799 F8WC38;O75818;X6RLL4 ABBA01022004;AL359643;AMYH02013023;AMYH02013024;BC017871;BG430780;BM015573;BM827175;BQ220155;BU607286;BX951376;CH471087;NM_001286132;NM_001286133;NM_006638;U94317 AAC24114;AAH17871;EAW55170;EAW55171;EAW55172;EAW55173;EAW55174;NP_001273061;NP_001273062;NP_006629;O75818 Hs.511756 1647957 RH47442 RNASEP1;bA428J1.3 OTTHUMP00000015982;OTTHUMP00000015983;OTTHUMP00000213852;RNase P subunit 1;RNaseP protein p40;ribonuclease P (40 kD);ribonuclease P 40kDa subunit;ribonuclease P protein subunit p40;ribonuclease P, 40kD subunit;ribonuclease P1 protein-coding ENSG00000124787 HGNC:20992 09361 606117 VALIDATED 1344011 RPPH1 ribonuclease P RNA component H1 H1RNA is the RNA component of the RNase P ribonucleoprotein, an endoribonuclease that cleaves tRNA precursor molecules to form the mature 5-prime termini of their tRNA sequences (Baer et al., 1989 [PubMed 2308839]).[supplied by OMIM, Mar 2008] 14 14 14 q11.2 672376 672716 - 20811230 20811570 - 20343071 20343411 - 6480464 10737800;15096576;2308839;2470644;7916700 85495 ABBA01061225;AL355075;AMYH02028821;CA413366;CV309337;DW429001;NG_033959;NR_002312;X15624;X16612 Hs.613102 H1RNA;RPPH1-1 APPROVED ncrna ENSG00000277209 HGNC:19273 608513 VALIDATED 732277 RPN2 ribophorin II This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 20 20 20 q12-q13.1 32515047 32577306 + 35807454 35870026 + 37179051 37241623 + 1580863;6480464;6907045;8554872 10660554;10737800;11780052;12477932;12665801;12887896;1301181;14702039;15489334;15835887;16169070;16196087;16990800;17220478;17314511;17353931;17558393;17620599;18029348;18724378;18781797;19549781;19615732;19617345;19668339;19805454;19946888;20000738;20379614;20471946;20473970;20562859;2066112;21081666;21139048;21145461;21182205;21693764;21857022;21890473;21900206;21906983;21963094;21987572;21988832;22268729;22354994;22586326;22678362;22939629;23000965;23166591;23246001;23464991;23798571;23959174;24457600;24816145;24885147;3034581;9642163 6185 F2Z3K5;H0Y5M1;P04844;Q5JYR3;Q5JYR4;Q5JYR7 ABBA01006615;ABBA01006616;ABBA01006617;AJ237734;AK096243;AK296126;AK308683;AK315801;AL031659;AMYH02037044;BC002380;BC003560;BC013028;BC020222;BF923732;BG718075;CH471077;CR456899;DB449190;NM_001135771;NM_002951;XM_005260491;XM_006723849;XM_006723850;XM_006723851;XM_006723852;Y00282 AAH02380;AAH03560;AAH13028;AAH20222;ABM83273;ABM86478;BAG38143;BAG53237;BAG58872;CAA68393;CAB54801;CAG33180;EAW76073;EAW76074;EAW76075;EAW76076;EAW76077;NP_001129243;NP_002942;P04844;XP_005260548;XP_006723912;XP_006723913;XP_006723914;XP_006723915 Hs.370895 1645848;1669658;1670851;1691364;1691368;1768785 AL031791;AL031793;D20S730;D20S757;RH36470;RH64128 RIBIIR;RPN-II;RPNII;SWP1 OTTHUMP00000030900;OTTHUMP00000030902;dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit;dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2;oligosaccharyltransferase complex subunit (non-catalytic);ribophorin 2;ribophorin-2 2316342 GLUCO236_H APPROVED protein-coding ENSG00000118705 HGNC:10382 01609 180490 REVIEWED 1312424 RPRD1B regulation of nuclear pre-mRNA domain containing 1B ENCODES a protein that exhibits RNA polymerase II core binding; INVOLVED IN dephosphorylation of RNA polymerase II C-terminal domain; positive regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN DNA-directed RNA polymerase II, holoenzyme; nucleus; INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 5-fluorouracil; benzo[a]pyrene 20 20 20 q11.21-q12 33369018 33427835 + 36661864 36756182 + 38033462 38092364 + 6480464;8554872 11780052;12477932;14702039;15302935;15342556;15489334;16189514;21044950;21139048;22231121;22264791;22863883;22990118;24332808;24452636;24550385;24589584;24816145;24997600 58490 A2A2M0;E9PIQ9;E9PQF3;Q9NQG5 ABBA01006636;ABBA01006637;AK092567;AK126484;AK312468;AL080224;AL109823;AL117521;AMYH02037055;AMYH02037056;BC001696;BC020939;BC033629;BP359144;CH471077;DQ372938;NM_021215;XM_005260477;XM_005260479;XM_005260480 AAH01696;AAH33629;ABD34791;BAG35375;CAH10720;EAW76045;EAW76046;NP_067038;Q9NQG5;XP_005260534;XP_005260536;XP_005260537 Hs.278839 1712985;1753275;2143446;2176527;2183138;7187985 A002U21;RH120583;SHGC-80717;WI-22173;Z94355 C20orf77;CREPT;DKFZp434P0735;FLJ44520;NET60;dJ1057B20.2 OTTHUMP00000030953;cell cycle-related and expression-elevated protein in tumor;cell-cycle related and expression-elevated protein in tumor;regulation of nuclear pre-mRNA domain-containing protein 1B protein-coding ENSG00000101413 HGNC:16209 08513 614694 VALIDATED 1350669 RPRM reprimo, TP53 dependent G2 arrest mediator candidate INVOLVED IN cell cycle arrest (inferred); regulation of mitotic cell cycle (inferred); PARTICIPATES IN p53 signaling pathway; FOUND IN cytoplasm (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 2 2 2 q23.3 147948311 147949781 - 154333852 154335322 - 153477338 153478808 - 737633;1580863;6480464;6907045 12477932 10930422;12395409;16303743;16752411;17207965;17353931;18197409;18829507;19322201;19917725;20949468;22562171;23312294;23720494;23982217 56475 Q9NS64 AA452090;AB043585;ABBA01004801;AC012501;AK074808;AK311958;AMYH02005008;BC002908;CH471058;CQ782742;NM_019845 AAH02908;AAY14783;ADQ32830;BAB01513;BAG34898;BAG52007;CAF85975;EAX11467;NP_062819;Q9NS64 Hs.100890 1648764;2163129 RH66328;WI-18554 FLJ90327 OTTHUMP00000162732;REPRIMO;candidate mediator of the p53 dependent G2 arrest;candidate mediator of the p53-dependent G2 arrest;reprimo, TP53 dependant G2 arrest mediator candidate protein-coding ENSG00000177519 HGNC:24201 18002 612171 VALIDATED 1316690 RPP38 ribonuclease P/MRP 38kDa subunit ENCODES a protein that exhibits ribonuclease P activity (inferred); INVOLVED IN RNA phosphodiester bond hydrolysis (inferred); RNA phosphodiester bond hydrolysis, endonucleolytic (inferred); tRNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; FOUND IN nucleolar ribonuclease P complex (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; formaldehyde; hydrogen peroxide 10 10 10 p13 15067814 15074888 + 15139179 15146256 + 15097180 15104257 + 6480464;6907045 10444065;11455963;12477932;14702039;15096576;15164054;15342556;15489334;15635413;16385451;17207965;17474147;21139048;21907836;22863883;24250222;24778252;24816145;8125298;9037013;9630247 10557 P78345;Q5VUC3;Q5VUC9 ABBA01034598;ABBA01034599;AF079567;AK057006;AK223418;AL590365;AMYH02022205;AW292674;BC029494;BP247818;BU180901;BU197354;CH471072;CR541816;CX787861;CX872398;NM_001097590;NM_001265601;NM_006414;NM_183005;U77664;XM_006717363;XM_006717364 AAC51142;AAH29494;ADQ31649;BAD97138;BAG51842;CAG46615;EAW86240;EAW86241;NP_001091059;NP_001252530;NP_006405;NP_892117;P78345;XP_006717426;XP_006717427 Hs.94986 1646029;2168408 RH71259;SHGC-58408 RP11-455B2.5 OTTHUMP00000019200;OTTHUMP00000019201;OTTHUMP00000019202;OTTHUMP00000019204;RNaseP protein p38;ribonuclease P (38kD) (RPP38);ribonuclease P protein subunit p38 protein-coding ENSG00000152464 HGNC:30329 09360 606116 VALIDATED 1601883 RPRD2 regulation of nuclear pre-mRNA domain containing 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN DNA-directed RNA polymerase II, holoenzyme; INTERACTS WITH elemental selenium; paracetamol; selenium atom 1 1 1 q21.3 123452749 123564816 + 150336624 150449042 + 150364148 150476566 + 6480464;8554872 12168954;12477932;14702039;15231747;15489334;16055720;16710414;16964243;17081983;19322201;19471022;21139048;21890473;22082156;22113938;22231121;22321011;22505724;22939629;23080069;23383108;23537643;24250222;24332808;24550385;9455484 23248 Q5VT52 AA749025;AB007929;ABBA01049337;ABBA01049338;ABBA01049339;ABBA01049340;ABBA01049341;ABBA01049342;ABBA01049343;AF161362;AK022984;AK026120;AK056707;AK125864;AK291703;AK304380;AK308148;AL356356;AL611942;AMYH02001848;AMYH02001849;AMYH02001850;BC045623;BX284695;BX641025;CH471121;DC369862;HY021241;NM_001297673;NM_001297674;NM_015203;XM_005245031;XM_005245032;XM_005245033;XM_006711240 AAF28922;AAH45623;ACE86944;ACE86975;ACE87632;ACE87664;BAA32305;BAF84392;BAG51793;BAG65218;CAE46016;EAW53551;EAW53552;EAW53553;EAW53554;EAW53555;NP_001284602;NP_001284603;NP_056018;Q5VT52;XP_005245088;XP_005245089;XP_005245090;XP_006711303 Hs.213666 2116247;2120798;2140514;2153709 99;RH36179;RH47339;RH48650 FLJ32145;HSPC099;KIAA0460 OTTHUMP00000014936;OTTHUMP00000014937;regulation of nuclear pre-mRNA domain-containing protein 2 protein-coding ENSG00000163125 HGNC:29039 614695 VALIDATED 1348476 RPS10P1 ribosomal protein S10 pseudogene 1 6 6 6 p21 27431654 27432245 + 26202351 26202943 + 26202123 26202715 + 19123937 394255 ABBA01066554;AL031777;AMYH02013349;NG_029345 2138536 RH66549 RPS10_7_669;RPS10p;dJ34B20.13 pseudo HGNC:13981 INFERRED 7365593 RPS10-NUDT3 RPS10-NUDT3 readthrough This locus represents naturally occurring read-through transcription between the neighboring RPS10 (ribosomal protein S10) and NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3) genes on chromosome 6. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011] 6 6 p21 34254971 34393902 - 34287194 34426125 - 6480464;8554872 15146197;20935630;20967262;21139048;21890473;21906983;21963094;22053931;22505724;23000965;25036637 100529239 S4R435 ABBA01038183;ABBA01038184;ABBA01038185;ABBA01038186;ABBA01038187;ABBA01038188;ABBA01038189;AL157372;AL355855;AMYH02013512;AMYH02013513;AMYH02013514;BU521288;NM_001202470;Z98036 NP_001189399 Hs.188882 1693942;5016261;5024041;5110593 D20S1016;D6S315E;G42665;RP_S10 protein-coding HGNC:49181 REVIEWED 2305821 RPS10P10 ribosomal protein S10 pseudogene 10 3 3 3 p14.2 62930017 62930602 + 62912018 62912603 + 62926343 62926928 + 19123937 389127 ABBA01024326;AC096915;AMYH02006940;NG_010006 RPS10_4_378 pseudo HGNC:37034 INFERRED 2305123 RPS10P12 ribosomal protein S10 pseudogene 12 5 5 5 q11.1 47517703 47518266 + 50571051 50571614 + 51275217 51275780 + 19123937 133569 ABBA01015706;AC026798;AMYH02011282;NG_011000 1747931 G66859 RPS10_5_559 pseudo HGNC:36662 INFERRED 2305701 RPS10P11 ribosomal protein S10 pseudogene 11 5 5 5 q31.1 129882304 129882569 + 133758516 133758781 + 134422825 134423090 + 19123937 391833 ABBA01068760;AC109454;AMYH02012243;NG_010811 RPS10_6_615 pseudo HGNC:36775 INFERRED 2305506 RPS10P13 ribosomal protein S10 pseudogene 13 6 6 6 p21.31 36266371 36266949 + 34711917 34712495 + 34744140 34744718 + 19123937 646785 ABBA01038201;AL139100;AMYH02013527;NG_010670 RPS10_8_685 pseudo HGNC:36374 INFERRED 2305359 RPS10P14 ribosomal protein S10 pseudogene 14 7 7 7 p14.1 37399530 37400110 + 37415096 37415676 + 37375493 37376073 + 19123937 646942 ABBA01056915;AC078843;AMYH02015542;CH236951;NG_009425 RPS10_9_805 pseudo HGNC:35880 INFERRED 2305466 RPS10P15 ribosomal protein S10 pseudogene 15 7 7 7 q32.1 123014327 123014857 - 128210249 128210779 - 128570195 128570725 - 19123937 654029 ABBA01057663;AC090114;AMYH02016716;NG_011064 RPS10_3_844 pseudo HGNC:35860 INFERRED 1604446 RPRML reprimo-like FOUND IN integral component of membrane (inferred); INTERACTS WITH cytarabine; fonofos; paracetamol 17 17 17 q21.32 41505036 41506130 - 45055522 45056614 - 46978156 46979248 - 6480464 12477932 388394 Q8N4K4 ABBA01041108;AC005670;AMYH02033514;BC033942;BC108690;CH471231;NM_203400 AAH33942;AAI08691;EAW57693;NP_981945;Q8N4K4 Hs.367999 MGC131790;MGC43894 reprimo-like protein protein-coding ENSG00000179673 HGNC:32422 14201 VALIDATED 2305169 RPS10P16 ribosomal protein S10 pseudogene 16 8 8 8 q24.11 114724176 114724685 - 118535456 118535965 - 117523217 117523726 - 19123937 100271050 ABBA01037798;AC024329;AMYH02018662;NG_011043 RPS10_4_945 pseudo HGNC:36200 INFERRED 2305841 RPS10P17 ribosomal protein S10 pseudogene 17 9 9 9 q33.3 98673788 98674353 - 128025815 128026381 - 125263536 125264102 - 19123937 645857 ABBA01043778;AL354710;AMYH02021645;NG_011162 RPS10_5_1013 pseudo HGNC:35562 INFERRED 2304798 RPS10P19 ribosomal protein S10 pseudogene 19 11 11 11 p11.2 46598212 46598771 - 46450143 46450931 - 46428593 46429381 - 19123937 100271350 ABBA01060745;AC024293;AMYH02024702;NG_011275 RPS10_7_1142 pseudo HGNC:35907 INFERRED 2304799 RPS10P18 ribosomal protein S10 pseudogene 18 10 10 10 q26 119952632 119953017 - 126178762 126179147 - 124490193 124490578 - 19123937 100271349 ABBA01034145;AL445237;AMYH02023976;NG_011271 RPS10_6_1108 pseudo HGNC:36239 INFERRED 1351811 RPS10P2 ribosomal protein S10 pseudogene 2 20 20 20 p12 14813227 14813812 + 14738179 14738764 + 14757533 14758118 + 19123937 140758 ABBA01053989;AL118510;AMYH02036735;NG_001001 RPS10_15_1685;dJ858M22.1 pseudo HGNC:16594 INFERRED 2304797 RPS10P21 ribosomal protein S10 pseudogene 21 13 13 13 q21.33 53386521 53386995 - 72487840 72488314 - 71913702 71914176 - 19123937 100271351 ABBA01050328;AL445923;AMYH02028240;NG_011279 RPS10_8_1322 pseudo HGNC:35906 INFERRED 2304560 RPS10P20 ribosomal protein S10 pseudogene 20 12 12 12 q13 47677728 47678302 + 48881696 48882270 + 48487913 48488487 + 19123937 100271547 ABBA01031481;AC089987;AMYH02026422;NG_010964 1714429 RH120207 RPS10_11_1233 pseudo HGNC:35829 INFERRED 2305879 RPS10P23 ribosomal protein S10 pseudogene 23 16 16 q23.1 74586112 74586690 + 74552214 74552792 + 19123937 645713 ABBA01058101;AC009153;AMYH02032381;NG_011365 RPS10_13_1498 pseudo HGNC:36657 INFERRED 2305554 RPS10P22 ribosomal protein S10 pseudogene 22 15 15 15 q22.2 37585251 37585838 + 60696618 60697205 + 60404419 60405006 + 19123937 401817 ABBA01038950;AC087385;AMYH02030554;NG_010809 RPS10_12_1442 pseudo HGNC:35814 INFERRED 2304498 RPS10P24 ribosomal protein S10 pseudogene 24 16 16 q22.1 70112986 70113564 - 70079083 70079661 - 19123937 645299 ABBA01000843;AC009022;AMYH02032292;NG_009469 1727579 G63198 RPS10_9_1493 pseudo HGNC:35989 INFERRED 1605654 RPRD1A regulation of nuclear pre-mRNA domain containing 1A P15RS is upregulated in cells overexpressing cyclin-dependent kinase inhibitor p15(INK4b) (CDKN2B; MIM 600431) and may have a role in cell cycle regulation (Liu et al., 2002 [PubMed 12470661]).[supplied by OMIM, Mar 2008] 18 18 18 q12.2 30377670 30455253 - 33569787 33647538 - 35989828 36067575 - 6480464 12470661;12477932;14702039;19322201;19471022;20739273;21139048;21988832;22053931;22118674;22231121;22580456;22863883;22990118;23443559;23455924;24223155;24550385;24997600 55197 K7EP82;K7EQR8;K7ER50;Q96P16 ABBA01022435;AC091060;AF419845;AK001518;AK292907;AK314569;AMYH02034558;AMYH02034559;BC000225;BC010136;CH471088;NM_018170;XM_005258293;XM_005258294 AAH00225;AAH10136;AAL15972;ABM83836;ABW03521;BAA91736;BAF85596;BAG37150;EAX01365;EAX01366;EAX01367;EAX01368;EAX01369;EAX01370;NP_060640;Q96P16;XP_005258350;XP_005258351 Hs.464912 1668380;1686784;1691280;1796442;2143382;2181698 P15RS_1703;RH47092;RH80213;RH99173;SGC38081;WIAF-1571 FLJ10656;HsT3101;MGC19513;P15RS Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein);OTTHUMP00000163414;cyclin-dependent kinase 2B-inhibitor-related protein;p15INK4B-related protein;regulation of nuclear pre-mRNA domain-containing protein 1A APPROVED protein-coding ENSG00000141425 HGNC:25560 10134 610347 PROVISIONAL 2304561 RPS10P25 ribosomal protein S10 pseudogene 25 17 17 17 q21 43679695 43680142 - 47225701 47226148 - 49148339 49148786 - 19123937 100271546 ABBA01041190;AC069454;AMYH02033560;NG_010960 1826366 ECD14296 RPS10_10_1555 pseudo HGNC:36532 INFERRED 2305101 RPS10P27 ribosomal protein S10 pseudogene 27 18 18 18 q11.2 18068340 18068921 - 21252168 21252749 - 23672204 23672785 - 19123937 100129556 ABBA01022627;AC067796;AMYH02034418;NG_010092 RPS10_12_1588 pseudo HGNC:36850 INFERRED 2304611 RPS10P28 ribosomal protein S10 pseudogene 28 19 19 19 q13.2 39974466 39975348 + 43174130 43175013 + 42669978 42670861 + 19123937 100132372 ABBA01040854;AC005204;AMYH02036157;NG_010093 RPS10_14_1658 pseudo HGNC:35511 INFERRED 2311476 RPS10P29 ribosomal protein S10 pseudogene 29 22 22 22 q11.23 8465642 8466495 - 24665251 24666173 - 24269283 24270205 - 388885 ABBA01055134;ABBA01055135;AMYH02038141;AP000354;NG_009906;NG_031915 pseudo HGNC:37120 INFERRED 1602177 RPS10P3 ribosomal protein S10 pseudogene 3 9 9 9 q22.1 61196901 61197489 + 90631177 90631765 + 88016262 88016850 + 19123937 158104 ABBA01016505;AL353572;AMYH02021167;NG_009716 RPS10_10_994 pseudo HGNC:23684 INFERRED 2305708 RPS10P30 ribosomal protein S10 pseudogene 30 22 22 22 q11.23 7479174 7479630 - 23664657 23665114 - 23322470 23322927 - 19123937 343851 ABBA01055106;AMYH02038124;AP000343;NG_010234 1784514 SHGC-170333 RPS10_14_1741 pseudo HGNC:35593 INFERRED 2304617 RPS10P31 ribosomal protein S10 pseudogene 31 22 22 22 q13.31 29582880 29583483 + 45671408 45672016 + 45275527 45276135 + 19123937 100129939 ABBA01007133;AL008718;AMYH02038516;NG_010775 RPS10_16_1758 pseudo HGNC:35998 INFERRED 2303440 RPS10P4 ribosomal protein S10 pseudogene 4 3 3 3 q13.31 111977693 111978275 - 113569035 113569617 - 113850188 113850770 - 19123937 728791 ABBA01061646;AC079944;AMYH02007455;NG_009545 RPS10_2_393;bcm1851 pseudo HGNC:31364 INFERRED 2304407 RPS10P6 ribosomal protein S10 pseudogene 6 1 1 1 q21.3 2139 2717 - 151529885 151530463 + 151557409 151557987 + 19123937 729374 ABBA01049400;AL365436;AMYH02001887;NG_010156 1826366;1927568;1927570;1927572;1927574;1927576;1927578;1927580;1927582;1927584;1927586;1927588;1927590;1927592;1927594;2207900 ECD14296;REN34610;REN34611;REN34612;REN34613;REN34614;REN34615;REN34616;REN34617;REN34618;REN34619;REN34620;REN34621;REN34622;REN34623;stSG627283 RPS10_1_98 pseudo HGNC:35765 INFERRED 1352265 RPS10P5 ribosomal protein S10 pseudogene 5 FOUND IN ribosome (inferred) 20 20 20 p13 916331 916950 - 820044 820663 - 839401 840020 - 11780052;19123937;19167051;20639865;21139048;21906983;22939629;24816145 93144 Q9NQ39 ABBA01053760;AL118502;AMYH02036562;NG_000952 Q9NQ39 RPS10L;RPS10_13_1677;bA371L19.2 pseudo HGNC:15795 INFERRED 2304399 RPS10P7 ribosomal protein S10 pseudogene 7 1 1 1 q32.1 174612896 174613591 + 201489032 201489730 + 201519904 201520602 + 12477932;14702039;19123937 376693 ABBA01027532;AC096677;AK055590;AMYH02002477;BC030568;NR_026667 Hs.605989 5016478;5016596;5022651;5109281;5117897 D11S2921;D1S1425;GDB:434012;GDB:631802;GDB:631813 MGC45392;RPS10_2_147 pseudo HGNC:36423 VALIDATED 2305876 RPS10P8 ribosomal protein S10 pseudogene 8 1 1 1 q23.1 131236437 131237022 - 158165372 158165957 - 158195582 158196167 - 19123937 729780 ABBA01016630;AL138899;AMYH02002002;NG_010935 RPS10_1_104 pseudo HGNC:36606 INFERRED 1349242 RPS11P1 ribosomal protein S11 pseudogene 1 20 20 20 p12.2 11396157 11396629 - 11326031 11326503 - 11345383 11345855 - 19123937 128718 ABBA01053944;AL049690;AMYH02036704;NG_000972 RPS11_3_1684;dJ1060K6.1 ribosomal protein s11, pseudogene 1 pseudo HGNC:16553 INFERRED 2305382 RPS11P3 ribosomal protein S11 pseudogene 3 1 1 1 q21 124845170 124845521 + 151730557 151730908 + 151758081 151758432 + 19123937 100270898 ABBA01049404;AL589765;AMYH02001888;NG_010264 RPS11_1_99 pseudo HGNC:35870 INFERRED 2305809 RPS11P2 ribosomal protein S11 pseudogene 2 1 1 1 q43 214055982 214056516 - 240799834 240800373 - 240636534 240637073 - 19123937 645916 ABBA01033237;AL358176;AMYH02003024;NG_010147 RPS11_1_184 pseudo HGNC:37007 INFERRED 2305168 RPS11P4 ribosomal protein S11 pseudogene 4 9 9 9 p21.1 32658276 32658674 - 32727064 32727462 - 32727066 32727464 - 19123937 100271052 ABBA01065077;AL157884;AMYH02019412;NG_011054 RPS11_2_972 pseudo HGNC:35644 INFERRED 2305682 RPS11P5 ribosomal protein S11 pseudogene 5 12 12 12 q24.33 133101242 133101823 + 133402267 133402823 + 132825681 132826237 + 19123937 727826 ABBA01042544;AC127070;AMYH02027596;NG_009555;NG_029887 1694766 G43591 RPS11_3_1298 pseudo HGNC:36312 INFERRED 2304488 RPS11P6 ribosomal protein S11 pseudogene 6 12 12 12 q14.2 64454639 64455629 + 64789790 64790780 + 64396010 64397000 + 19123937 729258 ABBA01026604;AC135279;AMYH02026662;NG_010888 RPS11_2_1249 pseudo HGNC:36693 INFERRED 2304744 RPS11P7 ribosomal protein S11 pseudogene 7 X X X p11.4 43862485 43862995 + 39724684 39725195 + 39865430 39865941 + 19123937 642687 ABBA01046898;AL592164;AMYH02039181;NG_011374 RPS11_4_1771 pseudo HGNC:36724 INFERRED 733640 RPS10 ribosomal protein S10 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011] 6 6 6 p21.31 35939570 35948220 - 34385231 34393902 - 34417454 34426125 - 1580863;6480464;7240710;8554872;8699517 10409428;11121577;11751223;12477932;12588972;12651107;15047060;15189156;15345747;15489334;15536084;15592455;15635413;15883184;16169070;16196087;17342744;17353931;18781797;19034380;19338310;19380743;19738201;19946888;20000738;20116044;20159986;20301769;20434207;20639865;21139048;21145461;21319273;21693764;21832049;21890473;21900206;21906983;21963094;22053931;22145905;22268729;22505724;22510774;22586326;22623428;22672539;22863883;22939629;23000965;23184937;23246001;23398456;23443559;23940030;24337577;24457600;24583282;24816145;25015289;6188845;7772601;8706699;8722009;9582194;9915854 6204 F6U211;P46783 AB007151;AB209165;ABBA01038188;ABBA01038189;AK311797;AL157372;AMYH02013513;AMYH02013514;BC001032;BC001955;BC005012;BC070235;BC071946;BC073799;BE397113;BG532491;BG940847;BQ072109;BU956627;BY996439;CD385233;CH471081;NG_023200;NM_001014;NM_001203245;NM_001204091;U14972;Z70761 AAA85660;AAH01032;AAH01955;AAH05012;AAH70235;AAH71946;AAH73799;ABM83060;ABM86254;BAA25817;BAD92402;BAG34740;CAA94807;EAX03782;EAX03783;EAX03784;NP_001005;NP_001190174;NP_001191020;P46783 Hs.406620;Hs.645317 1852941;5016261;5024041;5110593 D20S1016;D6S315E;RP_S10;RP_S10_2 DBA9;MGC88819;S10 40S ribosomal protein S10;OTTHUMP00000016229;OTTHUMP00000016230 APPROVED protein-coding ENSG00000124614 HGNC:10383 04697 603632;613308 REVIEWED 735309 RPS12 ribosomal protein S12 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 6 6 6 q23.2 133882535 133885530 + 133135708 133142007 + 132814569 132817564 + 1580863;6480464 11790298;11870519;11875025;12477932;12588972;15047060;15189156;15635413;15883184;16196087;1712897;1861993;19615732;19738201;19946888;20098747;21139048;21145461;21150874;21182205;21319273;21693764;21832049;21890473;21906983;21963094;22053931;22178446;22505724;22586326;22863883;22939629;23000965;23169665;23184937;23246001;23398456;23402259;23443559;23546393;23824909;24250222;24457600;24583282;24816145;25015289;6188845;7821789;8706699;8722009;9582194 6206 P25398 AB007153;AB061840;ABBA01025876;AK311826;AL137783;AMYH02014503;BC002550;BC017321;BC071930;BC095424;BQ276878;CH471051;D28378;NM_001016;X53505 AAH17321;AAH71930;AAH95424;BAA05744;BAA25819;BAB79478;BAG34768;CAA37582;EAW48008;EAW48009;EAW48010;EAW48011;NP_001007;P25398 Hs.546289 1667082;1794252;1804702;2090444;2090446;2090448;2135319;2143394;5124225;7186901 D6S989;ECD03283;H19;PMC310880P1;REN116499;REN116500;REN116501;RH47548;RH80451 S12 40S ribosomal protein S12;OTTHUMP00000017230 APPROVED protein-coding HGNC:10385 04714 603660 REVIEWED 1354074 RPS12P1 ribosomal protein S12 pseudogene 1 14 14 14 q24.2 53493595 53493901 - 73430455 73430761 - 72963747 72964053 - 19123937 326312 ABBA01030777;AL442663;AMYH02029479;NG_002564 2119686 G38238 RPS12_13_1388 pseudo HGNC:19787 INFERRED 2305164 RPS12P10 ribosomal protein S12 pseudogene 10 5 5 5 q31.3 138027565 138027947 + 141946265 141946647 + 142566700 142567082 + 19123937 100271056 ABBA01026374;AC005215;AMYH02012369;NG_011078 1801156;1830678;1904420;1904422;1904424;1904426;1904428;1904430;1904432;1904434;1904436;1904438;2204076 ECD01450;ECD16475;REN23013;REN23014;REN23015;REN23016;REN23017;REN23018;REN23019;REN23020;REN23021;REN23022;stSG622829 RPS12_4_622 pseudo HGNC:35824 INFERRED 2305690 RPS12P11 ribosomal protein S12 pseudogene 11 6 6 6 q25.1 152280542 152281043 - 151546663 151547164 - 151225528 151226029 - 19123937 442270 ABBA01025650;AL356535;AMYH02014723;NG_010833 RPS12_6_769 pseudo HGNC:36042 INFERRED 2305716 RPS10P9 ribosomal protein S10 pseudogene 9 2 2 2 p14 64738901 64739453 + 64892705 64893257 + 64665571 64666123 + 19123937 730187 ABBA01075424;AC007365;AMYH02003968;NG_010404 RPS10_3_235 pseudo HGNC:36451 INFERRED 2305331 RPS12P12 ribosomal protein S12 pseudogene 12 6 6 6 p22.3 19191801 19192174 + 17953800 17954173 + 17953569 17953942 + 19123937 100131761 ABBA01022229;AL023807;AMYH02013212;NG_010922;NG_029766 1715513 RH120979 RPS12_5_662 pseudo HGNC:36235 INFERRED 2305163 RPS12P13 ribosomal protein S12 pseudogene 13 6 6 6 q21 109923448 109923832 - 109177556 109177940 - 108856353 108856737 - 19123937 100271057 ABBA01026141;AL445189;AMYH02014276;NG_011081 RPS12_5_735 pseudo HGNC:36549 INFERRED 2305162 RPS12P14 ribosomal protein S12 pseudogene 14 6 6 6 p12 49086356 49086864 + 47530271 47530779 + 47562535 47563043 + 19123937 100271058 ABBA01050606;AL358178;AMYH02013695;NG_011085 RPS12_6_698 pseudo HGNC:35632 INFERRED 2305161 RPS12P15 ribosomal protein S12 pseudogene 15 8 8 8 q22.3 99700948 99701331 + 103515983 103516366 + 102503755 102504138 + 19123937 100271059 ABBA01037614;AMYH02018533;AP002852;NG_011090 1753637 SHGC-107548 RPS12_7_934 pseudo HGNC:35610 INFERRED 733888 RPS11 ribosomal protein S11 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S17P family of ribosomal proteins that is a component of the 40S subunit. This gene is co-transcribed with the small nucleolar RNA gene U35B, which is located in the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012] 19 19 19 q13.3 46868975 46872285 + 49999622 50002969 + 49496365 49499712 + 6480464 10580157;11790298;11875025;12477932;12588972;14743216;15189156;15489334;1577483;15883184;16196087;16344560;1697501;17353931;17361185;18259216;18274552;18457437;19056867;19167051;19596686;19738201;19850743;19946888;20020773;20139978;21081666;21139048;21145461;21182203;21319273;21832049;21853274;21890473;21906983;21907836;21909109;21942715;21963094;21987572;21988832;22145905;22505724;22623428;22863883;22939629;23000965;23022100;23084401;23184937;23246001;23398456;23443559;23455922;24457600;24657165;24816145;3267208;6188845;8706699;8722009;9582194 6205 M0QZ90;M0QZC5;M0R1H5;M0R1H6;P62280 AB007152;AB028893;ABBA01032923;AC010619;AK311809;AMYH02036319;AV759412;BC007283;BC007603;BC007945;BC010028;BC016378;BC018829;BC070224;BC100025;BF239060;BI550467;CH471177;DA879881;NM_001015;X06617 AAH07283;AAH07603;AAH07945;AAH10028;AAH16378;AAH70224;AAI00026;ABM84151;ABM87554;BAA25818;BAA88215;BAG34752;CAA29834;EAW52497;NP_001006;P62280 Hs.433529 1667051;2111862;2152977;5094709 D11S4521;D19S1022;MARC_4679-4680:996679598:1;RH66611 S11 40S ribosomal protein S11 APPROVED protein-coding ENSG00000142534 HGNC:10384 01599 180471 REVIEWED 2304796 RPS12P16 ribosomal protein S12 pseudogene 16 10 10 10 p11.22-p11.21 34729842 34730357 - 34964541 34965056 - 34675613 34676128 - 19123937 100271352 ABBA01033354;AL138768;AMYH02022605;NG_011286 RPS12_7_1034 pseudo HGNC:36595 INFERRED 2304795 RPS12P17 ribosomal protein S12 pseudogene 17 10 10 10 q21.1 64197095 64197562 - 70921270 70921737 - 69161514 69161981 - 19123937 100271353 ABBA01019600;AL442635;AMYH02023269;NG_011290 2183651 WI-11750 RPS12_8_1057 pseudo HGNC:35705 INFERRED 2304794 RPS12P18 ribosomal protein S12 pseudogene 18 10 10 10 q22.3 74588878 74589155 + 81303835 81304112 + 79544079 79544356 + 19123937 100271354 ABBA01020206;AC068139;AMYH02023401;BX248123;NG_011294 RPS12P19;RPS12_8_1068;RPS12_9_1069 pseudo HGNC:36421 INFERRED 2304793 RPS12P19 ribosomal protein S12 pseudogene 19 q22.3 19123937 100271355 AC068139;BX248123;NG_011298 RPS12_9_1069 pseudo HGNC:36424 2303480 RPS12P2 ribosomal protein S12 pseudogene 2 10 10 10 q22.3 75966542 75966810 - 81975607 81975875 - 80215851 80216119 - 19123937 619448 ABBA01003806;AL513174;AMYH02023415;NG_009566 RPS12_9_1071;bA40F6.3 pseudo HGNC:24221 INFERRED 2305627 RPS12P22 ribosomal protein S12 pseudogene 22 INTERACTS WITH zinc atom; zinc(0) 11 11 11 q13.4 71763586 71764109 - 74456716 74457239 - 74745671 74746194 - 6480464 19123937 440055 ABBA01017480;AMYH02025110;AP001324;NG_011284 2135319 RH47548 RPS12_10_1156 pseudo HGNC:35671 INFERRED 2305768 RPS12P23 ribosomal protein S12 pseudogene 23 INTERACTS WITH zinc atom; zinc(0) 13 13 13 q12.11 2730412 2730912 - 21668434 21668934 - 21094295 21094795 - 6480464 19123937 338870 ABBA01068598;AL161613;AMYH02027656;NG_010945 RPS12_11_1301 pseudo HGNC:35573 INFERRED 2305356 RPS12P25 ribosomal protein S12 pseudogene 25 15 15 15 q25.1 56980347 56980730 - 80044008 80044391 - 79751666 79752049 - 19123937 646985 ABBA01060616;AC026826;AMYH02030878;NG_010393 2119686 G38238 RPS12_14_1457 pseudo HGNC:36019 INFERRED 2305893 RPS12P26 ribosomal protein S12 pseudogene 26 15 15 15 q26.1 67154122 67154635 + 90749714 90750227 + 90206482 90206995 + 19123937 100130495 ABBA01053047;AC091167;AMYH02031037;NG_010991 RPS12_12_1461 pseudo HGNC:36320 INFERRED 2305538 RPS12P29 ribosomal protein S12 pseudogene 29 17 17 17 p13.2 4623470 4623969 - 4608094 4608594 - 4704799 4705299 - 19123937 728244 ABBA01054772;AC091153;AMYH02032831;NG_010933 RPS12_15_1507 pseudo HGNC:36206 INFERRED 2305485 RPS12P3 ribosomal protein S12 pseudogene 3 2 2 2 p16.1 61008903 61009411 - 61165312 61165820 - 60938177 60938685 - 19123937 344423 ABBA01075341;AC010733;AMYH02003916;NG_010533 1674234;1775572 RH15853;WI-15536 RPS12_2_223 pseudo HGNC:35500 INFERRED 2304556 RPS12P24 ribosomal protein S12 pseudogene 24 13 13 13 q13.3 18862251 18862643 - 37794995 37795389 - 37220858 37221252 - 19123937 100271551 ABBA01021340;AL138711;AMYH02027876;NG_010988 RPS12_12_1308 pseudo HGNC:35561 INFERRED 2304558 RPS12P20 ribosomal protein S12 pseudogene 20 11 11 11 q13 69723795 69724174 + 72419231 72419610 + 72708186 72708565 + 19123937 100271549 ABBA01017534;AP003065;NG_010973 RPS12_10_1153 pseudo HGNC:36187 INFERRED 2304555 RPS12P27 ribosomal protein S12 pseudogene 27 16 16 16 q22.1 52751728 52752171 + 68243284 68243727 + 68209381 68209824 + 19123937 100271552 ABBA01025480;AC020978;AMYH02032249;NG_010994;NG_029147 RPS12_13_1490 pseudo HGNC:35892 INFERRED 2304557 RPS12P21 ribosomal protein S12 pseudogene 21 11 11 11 q22 109242283 109242677 + 112088967 112089460 + 112218244 112218737 + 19123937 100271550 ABBA01039801;AMYH02025586;AP002884;NG_010980 RPS12_11_1175 pseudo HGNC:36464 INFERRED 2304559 RPS10P26 ribosomal protein S10 pseudogene 26 17 17 17 q23 54981382 54981911 - 60593636 60594165 - 62516275 62516804 - 19123937 100271548 ABBA01035348;AC008026;AMYH02033762;NG_010969 RPS10_11_1569 pseudo HGNC:36321 INFERRED 2304553 RPS12P30 ribosomal protein S12 pseudogene 30 17 17 17 q22 53439015 53439352 + 56976716 56977053 + 58899355 58899692 + 19123937 100271555 ABBA01041354;AC100832;AMYH02033697;NG_011007 RPS12_15_1561 pseudo HGNC:36813 INFERRED 2304554 RPS12P28 ribosomal protein S12 pseudogene 28 17 17 17 p13.2 23841654 23842026 + 26982627 26982999 + 28655609 28655981 + 19123937 100271553 ABBA01015051;AC005726;AMYH02033225;NG_010999 RPS12_14_1532 pseudo HGNC:36972 INFERRED 2304403 RPS12P31 ribosomal protein S12 pseudogene 31 19 19 19 q13.11 29820649 29821046 + 33126984 33127381 + 32636078 32636475 + 19123937 100130192 ABBA01039597;AC008474;AMYH02035920;NG_010757 RPS12_17_1644 pseudo HGNC:35578 INFERRED 2304552 RPS12P32 ribosomal protein S12 pseudogene 32 19 19 19 p13.2 11528914 11529411 + 11634171 11634668 + 11523356 11523853 + 19123937 100271556 ABBA01029844;AC008481;AMYH02035530;NG_011015 RPS12_16_1623 pseudo HGNC:35571 INFERRED 2305167 RPS12P5 ribosomal protein S12 pseudogene 5 3 3 3 p24.1 29369124 29369550 + 29432306 29432732 + 29390815 29391241 + 19123937 100271053 ABBA01024972;AC098650;AMYH02006465;NG_011058 RPS12_1_355 pseudo HGNC:36525 INFERRED 2305890 RPS12P4 ribosomal protein S12 pseudogene 4 INTERACTS WITH zinc atom; zinc(0) 2 2 2 p21 41916814 41917316 - 42077321 42077823 - 41850181 41850683 - 6480464 19123937;21156761 391370 ABBA01075055;AC009413;AMYH02003664;CH471053;NG_011048 EAX00328 RPS12_1_210 pseudo HGNC:35670 INFERRED 2305166 RPS12P6 ribosomal protein S12 pseudogene 6 3 3 3 p12 79552049 79552440 + 78808128 78808519 + 78758978 78759369 + 19123937 100271054 ABBA01031022;AC055731;AMYH02007118;NG_011065 RPS12_2_384 pseudo HGNC:35790 INFERRED 2305367 RPS12P8 ribosomal protein S12 pseudogene 8 4 4 4 q25 110331076 110331570 - 113037646 113038140 - 112116490 112116984 - 19123937 402184 ABBA01063812;AC093663;AMYH02009931;NG_010010 RPS12_4_508 pseudo HGNC:35945 INFERRED 2305165 RPS12P7 ribosomal protein S12 pseudogene 7 3 3 3 q25.1 156638379 156638742 + 158214355 158214718 + 158496566 158496929 + 19123937 100271055 ABBA01058820;AC106707;AC253558;NG_011071 RPS12_3_426 pseudo HGNC:36699 INFERRED 2305648 RPS12P9 ribosomal protein S12 pseudogene 9 4 4 4 q13.1 60099305 60100144 - 62641145 62641984 - 61775427 61776266 - 19123937;9847074 727997 ABBA01022833;AC108161;AMYH02009322;NG_007430;NG_033950 RPS12_3_484 pseudo HGNC:36719 INFERRED 2305790 RPS13P1 ribosomal protein S13 pseudogene 1 1 1 1 q24.1 138745649 138746124 + 165640493 165640968 + 165671256 165671731 + 19123937 100128305 ABBA01047280;AL451074;AMYH02002065;NG_010259;NG_012256 RPS13_1_111 pseudo HGNC:36309 INFERRED 2304852 RPS13P3 ribosomal protein S13 pseudogene 3 2 2 2 p21 42537233 42537747 + 42696930 42697444 + 42469790 42470304 + 19123937 100129718 ABBA01075061;AC025750;AMYH02003675;NG_010948 2185973 D2S1825 RPS13_3_211 pseudo HGNC:36866 INFERRED 2304491 RPS13P2 ribosomal protein S13 pseudogene 2 1 1 1 p32.3 51524587 51525108 - 53237825 53238346 - 52772153 52772674 - 6480464 19123937 729236 ABBA01074762;AC099784;AMYH02001025;NG_009715 RPS13_1_51 pseudo HGNC:36364 INFERRED 2305160 RPS13P4 ribosomal protein S13 pseudogene 4 2 2 2 p23.3 23963955 23964411 + 24123563 24124019 + 23900693 23901149 + 19123937 100271060 ABBA01045096;AC066692;AMYH02003409;NG_011093;NG_029017 RPS13_2_199 pseudo HGNC:35731 INFERRED 2305159 RPS13P5 ribosomal protein S13 pseudogene 5 2 2 2 p23.3 25032172 25032486 - 25191796 25192110 - 24968927 24969241 - 19123937 100271061 ABBA01045126;AC013267;AMYH02003425;NG_011097 RPS13_2_201 pseudo HGNC:36610 INFERRED 2305158 RPS13P6 ribosomal protein S13 pseudogene 6 5 5 5 q31 129726845 129727356 + 133603077 133603588 + 134267386 134267897 + 19123937 100271062 ABBA01068763;AC104109;AMYH02012240;NG_011104 RPS13_4_614 pseudo HGNC:35653 INFERRED 737303 RPS13 ribosomal protein S13 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The gene product of the E. coli ortholog (ribosomal protein S15) functions at early steps in ribosome assembly. This gene is co-transcribed with two U14 small nucleolar RNA genes, which are located in its third and fifth introns. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 11 11 11 p15 17223829 17227109 - 17095939 17099220 - 17074392 17077673 - 6480464;8554872 11306805;11790298;12054647;12477932;12588972;12861018;14743216;15149863;15189156;15489334;15592455;15680243;15883184;16051665;16159877;16196087;17081983;17361185;17620599;17881366;18274552;18457437;19596686;19738201;19805454;19912438;19946888;20434207;20639865;21139048;21145461;21182205;21319273;21853274;21890473;21906983;21963094;22145905;22295575;22354994;22505724;22623428;22779921;22797925;22863883;22912744;22939629;23000965;23184937;23383273;23443559;23463506;2403345;24250222;24457600;24657165;24816145;6188845;7821789;8332508;8706699;8722009;8920921;9582194 6207 E9PS50;J3KMX5;P62277 ABBA01061070;AC006597;AC116533;AK312060;AMYH02024378;BC000475;BC006772;BC029732;BC066322;BC100032;CH471064;D28429;D88010;L01124;L05090;NM_001017;X79239 AAA60283;AAC15854;AAH00475;AAH06772;AAH29732;AAH66322;AAI00033;ABM82033;ABM85214;BAA05795;BAA13528;BAG34996;CAA55821;EAW68448;NP_001008;P62277 Hs.446588 5015745;5015903;5095917 D11S4397;D19S1001;GDB:372023 S13 40S ribosomal protein S13;OTTHUMP00000231640;OTTHUMP00000231661 APPROVED protein-coding ENSG00000110700 HGNC:10386 01604 180476 REVIEWED 2305808 RPS13P7 ribosomal protein S13 pseudogene 7 15 15 15 q21.3 34738415 34738918 - 57848103 57848606 - 57555905 57556408 - 19123937 645918 ABBA01038991;AC025271;AMYH02030521;NG_011355 2119039;2171119;5019751 A009O42;G32716;RH44889 RPS13_3_1434 pseudo HGNC:36310 INFERRED 2305913 RPS13P8 ribosomal protein S13 pseudogene 8 15 15 15 q21.2 29281909 29282426 + 52387469 52387986 + 52095272 52095789 + 6480464 19123937 645630 ABBA01039068;AC023906;AMYH02030443;NG_011321 RPS13_5_1432 pseudo HGNC:36400 INFERRED 2304609 RPS14P4 ribosomal protein S14 pseudogene 4 2 2 2 q13 1 90 + 112053133 112053658 - 111295556 111296081 - 19123937 100132382 AC068491;AMYH02004573;NG_010162 RPS14_2_264 pseudo HGNC:36419 INFERRED 2305621 RPS14P3 ribosomal protein S14 pseudogene 3 This gene is one of the multiple ribosomal protein S14-like genes that are dispersed throughout the genome. This gene is intronless and is a pseudogene of the spliced and functional ribosomal protein S14 gene that is located on chromosome 5. This intronless gene is transcribed and probably does not encode a functional protein. [provided by RefSeq, Feb 2013] 1 1 1 p36.13 18261478 18262015 + 19934301 19935138 + 19607807 19608644 + 12477932;17207965;19123937;9152021 644068 ABBA01059762;AL031727;AMYH02000421;BC072682;BQ930453;BU176905;NR_077246 ADQ32031 Hs.660760 5109641 D5S1606E RPS14_1_16 APPROVED pseudo HGNC:35797 VALIDATED 2305745 RPS14P5 ribosomal protein S14 pseudogene 5 2 2 2 p11.2 1 90 + 87954374 87954895 + 87654855 87655376 + 19123937 100133255 AC093616;AC133965;AMYH02004232;NG_010706 1764179 SHGC-147818 RPS14_3_249 pseudo HGNC:36087 INFERRED 2305509 RPS14P6 ribosomal protein S14 pseudogene 6 4 4 4 q31.3 150858740 150859286 - 153534976 153535522 - 152613824 152614370 - 19123937 646737 ABBA01070124;AC023424;AMYH02010310;NG_010435 RPS14_3_529 pseudo HGNC:36241 INFERRED 2305591 RPS14P9 ribosomal protein S14 pseudogene 9 6 6 6 q15 89392829 89393241 + 88974892 88975304 + 88265173 88265585 + 19123937 644119 ABBA01040517;AL121835;AMYH02014067;NG_009572 RPS14_6_722 pseudo HGNC:36286 INFERRED 2305589 RPS14P8 ribosomal protein S14 pseudogene 8 5 5 5 q23.1 111847779 111848322 + 115898217 115898760 + 116562521 116563064 + 19123937 644146 ABBA01069023;AC027304;AMYH02012012;NG_010268 1673014;2114620 RH68760;SHGC-35133 RPS14_5_603 pseudo HGNC:37027 INFERRED 2305156 RPS14P2 ribosomal protein S14 pseudogene 2 1 1 1 q24 151489571 151490050 + 178380719 178381198 + 178411584 178412063 + 19123937 100271064 ABBA01027836;AL365357;AMYH02002219;NG_011116 RPS14_2_132 pseudo HGNC:36080 INFERRED 2305155 RPS14P7 ribosomal protein S14 pseudogene 7 4 4 4 q32.1 159078169 159078601 + 161739574 161740006 + 160818422 160818854 + 19123937 100271065 ABBA01070236;AC125470;AMYH02010395;NG_011119 RPS14_4_530 pseudo HGNC:36961 INFERRED 2305157 RPS14P1 ribosomal protein S14 pseudogene 1 1 1 1 q32 180120564 180121084 - 206869127 206869647 - 206695782 206696302 - 19123937 100271063 ABBA01010192;AL591846;AMYH02002553;NG_011111;NG_029640 RPS14_1_156 pseudo HGNC:35572 INFERRED 736357 RPS15 ribosomal protein S15 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1372361 1374490 + 1438363 1440494 + 1438364 1440493 + 6480464 12477932;12588972;15189156;15231747;15489334;15883184;16037817;16196087;16210410;18457437;18697920;19061985;19738201;19850743;2044758;21139048;21145461;2159154;21693764;21890473;21963094;21988832;22586326;22797925;22863883;22939629;23000965;23184937;23443559;23463506;23874713;24457600;24725412;24816145;25015289;2821540;3378620;6188845;8706699;8722009;9582194 6209 K7EJ78;K7ELC2;K7EM56;K7EPN6;K7EQJ5;P62841;S4R3J3;S4R456 ABBA01002646;AC027307;AF145025;AMYH02035151;BC064908;BC080543;BC105810;BC141832;BU602036;CH471139;J02984;M32405;NG_017014;NM_001018 AAA36036;AAA36568;AAH64908;AAI05811;AAI41833;AAP97277;EAW69499;EAW69500;NP_001009;P62841 Hs.406683 1773316;5015861;5037552;7185938 D10S16;D8S2279;RP_S15 MGC111130;RIG;S15 40S ribosomal protein S15;homolog of rat insulinoma;insulinoma protein APPROVED protein-coding ENSG00000115268 HGNC:10388 01613 180535 REVIEWED 2305227 RPS14P10 ribosomal protein S14 pseudogene 10 7 7 7 q32.3 126099879 126100085 + 131350338 131350544 + 131665579 131665785 + 12690205;19123937 647034 ABBA01001077;AC093106;AMYH02016774;CH236950;NG_006544 EAL24078 RPS14_7_847 pseudo HGNC:35517 INFERRED 1350733 RPS15AP1 ribosomal protein S15a pseudogene 1 20 20 20 p11.23 21223355 21223804 - 21146805 21147254 - 21166165 21166614 - 19123937 92682 ABBA01054100;AL121759;AMYH02036812;NG_000951;NG_033122 1779090 STS-W52024 RPS15A_24_1692;dJ872K7.6 pseudo HGNC:16598 INFERRED 2305456 RPS15AP12 ribosomal protein S15a pseudogene 12 INTERACTS WITH valproic acid 1 1 1 q41 193536469 193536927 - 220317260 220317718 - 220143918 220144376 - 6480464 19123937 100129243 ABBA01048081;AC103590;AMYH02002730;NG_011132 RPS15A_5_166 pseudo HGNC:36759 INFERRED 2304855 RPS15AP10 ribosomal protein S15a pseudogene 10 1 1 1 p34.1 44395426 44396339 - 46111444 46112357 - 45645772 45646685 - 19123937 728963 ABBA01050862;AL604028;AMYH02000935;CA843872;NR_026768 Hs.675157 2128843 SHGC-74736 RPS15A_4_42 pseudo HGNC:37001 VALIDATED 2305114 RPS15AP11 ribosomal protein S15a pseudogene 11 INTERACTS WITH valproic acid 1 1 1 p34.1 43528847 43529307 - 45245957 45246417 - 44780285 44780745 - 6480464 19123937 644790 ABBA01050909;AL592166;AMYH02000918;NG_010947 1779090;2182395;7185033 D1S1544;STS-W52024 RPS15A_3_41 pseudo HGNC:36707 INFERRED 2305676 RPS15AP13 ribosomal protein S15a pseudogene 13 2 2 2 p13.2 72365872 72366255 + 72515861 72516244 + 72288732 72289115 + 19123937 100128605 ABBA01075563;AC006461;AMYH02004067;NG_010488 RPS15A_3_241 pseudo HGNC:36774 INFERRED 2304791 RPS15AP16 ribosomal protein S15a pseudogene 16 3 3 3 q21.3 126949893 126950254 - 128517683 128518044 - 128798840 128799201 - 19123937 100271358 ABBA01020911;AC023598;AMYH02007628;NG_011319 RPS15A_7_402 pseudo HGNC:36764 INFERRED 2304356 RPS15AP14 ribosomal protein S15a pseudogene 14 2 2 2 q31.1 169662481 169662927 + 176048937 176049383 + 175184209 175184655 + 19123937 100127924 ABBA01062204;AC096649;AMYH02005286;NG_009584 RPS15A_4_297 pseudo HGNC:36629 INFERRED 2305780 RPS15AP15 ribosomal protein S15a pseudogene 15 2 2 2 p14 65585585 65585963 - 65738902 65739280 - 65511768 65512146 - 19123937 100130782 ABBA01075446;AC007389;AMYH02003983;NG_011150 RPS15A_6_237 pseudo HGNC:35640 INFERRED 2304789 RPS15AP18 ribosomal protein S15a pseudogene 18 5 5 5 q35.3 174985961 174986412 - 179360775 179361226 - 179933775 179934226 - 19123937 100271360 ABBA01010049;AC010285;AMYH02012898;NG_009955 RPS15A_9_644 pseudo HGNC:36524 INFERRED 2305766 RPS15AP17 ribosomal protein S15a pseudogene 17 INTERACTS WITH valproic acid 4 4 4 q13.1 60429442 60429901 - 62971338 62971797 - 62105620 62106079 - 6480464 19123937 391656 ABBA01022836;AC007511;AMYH02009328;CH471057;NG_011197 EAX05531 RPS15A_8_485 pseudo HGNC:36888 INFERRED 2305472 RPS15AP19 ribosomal protein S15a pseudogene 19 INTERACTS WITH valproic acid 6 6 6 p21.31 37077586 37078044 + 35523623 35524081 + 35555846 35556304 + 6480464 19123937 646819 ABBA01038238;AL033519;AMYH02013543;NG_010854 RPS15A_5_686 pseudo HGNC:36603 INFERRED 1347234 RPS15AP2 ribosomal protein S15a pseudogene 2 14 14 14 q21.3 30387086 30387447 + 50519954 50520315 + 50053236 50053597 + 19123937 326316 ABBA01018128;AL117692;AMYH02029162;NG_002566 RPS15A_11_1364 pseudo HGNC:19671 INFERRED 2304550 RPS15AP23 ribosomal protein S15a pseudogene 23 7 7 7 q31 127751302 127751704 - 132999763 133000165 - 133315009 133315411 - 19123937 100271558 ABBA01001100;AC083875;AMYH02016790;CH236950;NG_011024 RPS15A_12_849 pseudo HGNC:36718 INFERRED 2304551 RPS15AP22 ribosomal protein S15a pseudogene 22 7 7 7 q32.3 126136605 126137062 - 131386983 131387435 - 131702224 131702676 - 19123937 100271557 ABBA01001077;AC093106;AMYH02016775;CH236950;NG_011019 RPS15A_11_848 pseudo HGNC:36305 INFERRED 2304792 RPS15AP21 ribosomal protein S15a pseudogene 21 6 6 6 q22.31 122447001 122447458 + 121702585 121703042 + 121381439 121381896 + 19123937;24550385 100271357 ABBA01025999;AL139098;AMYH02014396;NG_011313 RPS15A_6_747 pseudo HGNC:36142 INFERRED 2305112 RPS15AP20 ribosomal protein S15a pseudogene 20 6 6 6 p12.3 53061667 53062111 - 51401928 51402373 - 51537130 51537575 - 19123937 647155 ABBA01050571;AL445529;AMYH02013723;NG_011260 RPS15A_10_701 pseudo HGNC:36391 INFERRED 2305652 RPS15AP24 ribosomal protein S15a pseudogene 24 INTERACTS WITH valproic acid 8 8 8 p12 28934253 28934722 - 29974856 29975325 - 30117340 30117809 - 6480464 19123937 648729 ABBA01023671;AC026979;AMYH02017711;NG_010125 1779090 STS-W52024 RPS15A_13_889 pseudo HGNC:36174 INFERRED 735975 RPS15A ribosomal protein S15a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 16 16 16 p 17948012 17955392 - 18794277 18801656 - 18782955 18790334 - 6480464 12477932;12588972;14667819;14702039;15108328;15189156;15489334;15840729;15883184;16189514;16226712;17361185;18274552;18781797;19738201;19946888;21139048;21145461;21182205;21319273;21726808;21853274;21890473;21900206;21906983;21907836;21942715;21963094;21987572;22145905;22234250;22505724;22623428;22863883;22939629;23000965;23184937;23246001;23398456;23443559;23862649;24334120;24457600;24657165;24816145;8185605;8706699;8722009;9582194 6210 B2R4W8;H3BT37;H3BV27;H3BVC7;I3L246;I3L303;I3L3P7;P62244 AB007154;AB062400;ABBA01028241;ABBA01028242;AC020716;AC138811;AK023088;AK130967;AK291988;AK311976;AMYH02031628;AY208299;BC001697;BC030569;BC032115;BC046113;BC105273;BC105292;BF678907;BG035607;CH471186;CS185588;NM_001019;NM_001030009;X84407 AAH01697;AAH30569;AAH46113;AAI05274;AAI05293;AAO48936;ADZ16007;BAA28592;BAB93487;BAF84677;BAG34915;CAA59127;CAJ42769;EAW50254;EAW50255;NP_001010;NP_001025180;P62244 Hs.370504 1668784;1671165;1684224;1700212;1779090;5014865;5015861;5020948;5021138;5124515;7185938 D10S16;D12S1332;D16S3226;G35510;RH103722;RH25299;RH71296;SHGC-60635;SHGC-6101;STS-W52024 FLJ27457;MGC111208;S15a 40S ribosomal protein S15a;OTTHUMP00000162054;up-regulated by HBV X protein APPROVED protein-coding ENSG00000134419 HGNC:10389 04723 603674 REVIEWED 2305107 RPS15AP25 ribosomal protein S15a pseudogene 25 8 8 8 q13.2 65431060 65431526 - 69437718 69438181 - 68525483 68525946 - 19123937;21145461 728774 ABBA01041912;AC090096;AMYH02018149;NG_011025 RPS15A_14_912 pseudo HGNC:36848 INFERRED 2304790 RPS15AP26 ribosomal protein S15a pseudogene 26 8 8 8 q22.1 91887023 91887395 + 95700466 95700838 + 94688238 94688610 + 19123937 100271359 ABBA01037459;AC108860;AMYH02018431;NG_011324 RPS15A_7_928 pseudo HGNC:36773 INFERRED 2304462 RPS15AP27 ribosomal protein S15a pseudogene 27 9 9 9 q31.2 81224930 81225344 - 110725942 110726356 - 107963661 107964075 - 19123937 100271613 ABBA01042780;AL353137;AMYH02021425;NG_011314 RPS15A_15_1003 pseudo HGNC:37011 INFERRED 2304478 RPS15AP28 ribosomal protein S15a pseudogene 28 10 10 10 q22.1 64335999 64336453 - 71060149 71060603 - 69300393 69300847 - 19123937 100132400 ABBA01019607;AL596223;AMYH02023270;NG_011361;NG_012077 RPS15A_16_1058 pseudo HGNC:36381 INFERRED 2305606 RPS15AP29 ribosomal protein S15a pseudogene 29 10 10 10 q24.32 98624997 98625396 - 104884774 104885173 - 103125017 103125416 - 19123937 100128863 ABBA01063121;AL360001;AMYH02023721;NG_010495 RPS15A_17_1092 pseudo HGNC:35981 INFERRED 1344059 RPS15AP3 ribosomal protein S15a pseudogene 3 14 14 14 q21.3 27773833 27774286 - 47913274 47913727 - 47444071 47444524 - 19123937 326317 ABBA01018088;AL358832;AMYH02029126;NG_002567 RPS15A_19_1360 pseudo HGNC:19674 INFERRED 2304426 RPS15AP31 ribosomal protein S15a pseudogene 31 11 11 11 p14.1 28454682 28455129 - 28308743 28309190 - 28287196 28287643 - 19123937 100271652 ABBA01060957;AC104978;AMYH02024511;NG_010192 RPS15A_18_1130 pseudo HGNC:36960 INFERRED 2304429 RPS15AP32 ribosomal protein S15a pseudogene 32 12 12 12 q24.13 113118855 113119231 + 113491867 113492243 + 113054062 113054438 + 19123937 100271649 ABBA01019944;AC089999;AMYH02027233;NG_010178 RPS15A_10_1280 pseudo HGNC:35879 INFERRED 2304425 RPS15AP33 ribosomal protein S15a pseudogene 33 16 16 16 p11 27779690 27780075 - 28825263 28825648 - 28813942 28814327 - 19123937 100271654 ABBA01045690;AC145285;AMYH02031813;NG_010204 RPS15A_21_1479 pseudo HGNC:36178 INFERRED 2304507 RPS15AP35 ribosomal protein S15a pseudogene 35 18 18 18 q12.1 26462785 26463241 - 29655809 29656265 - 32075846 32076302 - 19123937 390848 ABBA01022494;AC011825;AMYH02034518;NG_010996 RPS15A_23_1592 pseudo HGNC:36768 INFERRED 2304638 RPS15AP34 ribosomal protein S15a pseudogene 34 16 16 16 q21 47887975 47888364 - 63384663 63385052 - 63350759 63351148 - 11181995;19123937 390735 ABBA01025371;AC117984;AMYH02032181;CH471092;NG_010426 EAW82998;EAW82999 RPS15A_22_1489 pseudo HGNC:35609 INFERRED 2304427 RPS15AP37 ribosomal protein S15a pseudogene 37 22 22 22 q12.2 15309111 15309545 + 31508980 31509414 + 31112994 31113428 + 19123937 100271651 ABBA01055320;AC005005;AMYH02038228;NG_010187 1718777 RH123092 RPS15A_13_1746 pseudo HGNC:36173 INFERRED 2304424 RPS15AP38 ribosomal protein S15a pseudogene 38 22 22 22 q12.3 20619745 20620243 - 36817275 36817773 - 36421230 36421728 - 19123937 100271655 ABBA01055441;AMYH02038319;BX470187;NG_010210 RPS15A_25_1749 pseudo HGNC:36523 INFERRED 2305454 RPS15AP39 ribosomal protein S15a pseudogene 39 X X X p11.4 45749660 45750142 + 41607441 41607918 + 41748188 41748665 + 19123937 100129284 ABBA01046623;AL353691;AMYH02039219;NG_009981;NG_016754 RPS15A_14_1774 pseudo HGNC:35800 INFERRED 2303451 RPS15AP4 ribosomal protein S15a pseudogene 4 14 14 14 q23.1 41119091 41119536 - 61068824 61069269 - 60602106 60602551 - 19123937 654371 ABBA01018283;AL049874;AMYH02029297;NG_009527 RPS15A_20_1378 pseudo HGNC:23559 INFERRED 2305899 RPS15AP40 ribosomal protein S15a pseudogene 40 X X X p21.1 40520468 40520926 - 36392870 36393328 - 36374755 36375213 - 19123937 100128083 ABBA01073567;AL606516;AMYH02039167;NG_010442 RPS15A_26_1770 pseudo HGNC:36041 INFERRED 1351988 RPS15AP5 ribosomal protein S15a pseudogene 5 10 10 10 q26.13 117204902 117205362 + 123473091 123473551 + 121713577 121714037 + 19123937 414230 ABBA01062862;AC025947;AMYH02023942;NG_009526 RPS15A_9_1106 pseudo HGNC:23743 INFERRED 2305050 RPS15AP7 ribosomal protein S15a pseudogene 7 1 1 1 p31.3 60945178 60945657 + 62656164 62656643 + 62190492 62190971 + 19123937 100271142 ABBA01074608;AL162739;AMYH02001138;NG_010203 RPS15A_1_57 pseudo HGNC:35648 INFERRED 2305049 RPS15AP8 ribosomal protein S15a pseudogene 8 1 1 1 p34.2 41159977 41160449 - 42878023 42878495 - 42412352 42412824 - 19123937 100271143 ABBA01023133;AL513331;AMYH02000879;NG_010208 RPS15A_2_39 pseudo HGNC:36887 INFERRED 2305846 RPS15AP9 ribosomal protein S15a pseudogene 9 1 1 1 p13.1 115909444 115909927 + 117680787 117681270 + 117138165 117138648 + 11181995;19123937 441898 ABBA01068499;AL391476;AMYH02001797;CH471122;NG_006958 EAW56670 RPS15A_2_91 pseudo HGNC:36164 INFERRED 2305465 RPS15P1 ribosomal protein S15 pseudogene 1 1 1 1 p13.2 111971168 111971652 + 113741429 113741913 + 113198807 113199291 + 19123937 728428 ABBA01068450;AL357055;AMYH02001761;NG_010559 RPS15_1_87 pseudo HGNC:35725 INFERRED 2304466 RPS15AP30 ribosomal protein S15a pseudogene 30 10 10 10 q25.2 108475023 108475405 + 114747241 114747623 + 112987482 112987864 + 19123937 100271607 ABBA01063000;AL445486;AMYH02023829;NG_011280;NG_012631 1335006 D10S168 RPS15A_8_1098 pseudo HGNC:35495 INFERRED 2305154 RPS15P2 ribosomal protein S15 pseudogene 2 1 1 1 q42.2 207763318 207763815 - 234492419 234492916 - 234356673 234357170 - 19123937;23443559 100271066 ABBA01033094;AL355472;AMYH02002923;NG_011122 RPS15_1_177 pseudo HGNC:36033 INFERRED 2304368 RPS15P3 ribosomal protein S15 pseudogene 3 1 1 1 q24.3 144880519 144892506 + 171771113 171783110 + 171801973 171813970 + 19123937 391137 ABBA01027923;AL031864;AMYH02002144;NG_011163 RPS15_2_123 pseudo HGNC:35563 INFERRED 2305850 RPS15P4 ribosomal protein S15 pseudogene 4 2 2 2 q31.1 165990338 165990836 - 172373749 172374247 - 171517239 171517737 - 11181995;19123937 401019 ABBA01020726;AC007969;AMYH02005223;CH471058;NG_005983 EAX11211 RPS15_2_291 pseudo HGNC:35712 INFERRED 2305875 RPS15P5 ribosomal protein S15 pseudogene 5 3 3 3 p14.3 54626768 54627295 + 54660180 54660707 + 54626153 54626680 + 6480464 19123937 729789 ABBA01024462;AC092057;AMYH02006837;NG_010976 RPS15_3_372 pseudo HGNC:35536 INFERRED 2305699 RPS15P6 ribosomal protein S15 pseudogene 6 5 5 5 q34 160065558 160066057 - 164027977 164028476 - 164600971 164601470 - 19123937 391845 ABBA01044178;AC008446;AMYH02012650;NG_010863 RPS15_3_634 pseudo HGNC:36653 INFERRED 2304788 RPS15P7 ribosomal protein S15 pseudogene 7 12 12 12 p13 6055580 6056067 - 4433513 4434005 - 4324347 4324839 - 19123937 100271361 ABBA01048766;AC006122;AMYH02025921;NG_009960 RPS15_4_1197 pseudo HGNC:36623 INFERRED 2304872 RPS15P8 ribosomal protein S15 pseudogene 8 15 15 15 q14 14549600 14550061 + 37782879 37783340 + 37490678 37491139 + 19123937 390576 ABBA01038491;AC016304;AMYH02030207;NG_010918 1298121;1708540 D2S2184;SHGC-85049 RPS15_4_1425 pseudo HGNC:35847 INFERRED 2305051 RPS15AP6 ribosomal protein S15a pseudogene 6 1 1 1 p36.12 19655462 19655915 - 21330004 21330457 - 21003511 21003964 - 19123937 100271141 ABBA01059799;AL627311;AMYH02000436;NG_010197 1773025;1850236 G29258;SHGC-74355 RPS15A_1_18 pseudo HGNC:35657 INFERRED 2305551 RPS15P9 ribosomal protein S15 pseudogene 9 19 19 19 p13.3 1241677 1243911 - 1307385 1309589 - 1307386 1309590 - 19123937 401895 ABBA01002638;AC005330;AMYH02035147;NG_011189 RPS15_5_1616 pseudo HGNC:36440 INFERRED 2305849 RPS16P1 ribosomal protein S16 pseudogene 1 1 1 1 p36.21 14634671 14635192 + 16154707 16155228 + 15828212 15828733 + 6480464 19123937 441876 ABBA01004693;AL450998;AMYH02000371;NG_010091 RPS16_1_14 pseudo HGNC:36462 INFERRED 2305796 RPS16P10 ribosomal protein S16 pseudogene 10 19 19 19 p12 20140805 20141375 + 20235789 20236359 + 20124980 20125550 + 6480464 19123937 729903 ABBA01051349;AC011447;AMYH02035774;NG_009607 1752651;1770698;2163026 D19S726;RP_S16_1;SHGC-106499 RPS16_5_1636 pseudo HGNC:35739 INFERRED 2305477 RPS16P2 ribosomal protein S16 pseudogene 2 2 2 2 p24.1 20217659 20218199 - 20355334 20355874 - 20155573 20156113 - 19123937;23648065 402069 ABBA01018483;AC098828;AMYH02003364;NG_010786 RPS16_1_197 pseudo HGNC:35928 INFERRED 2304428 RPS15AP36 ribosomal protein S15a pseudogene 36 19 19 19 qter 55771440 55771908 + 58727513 58727981 + 58216147 58216615 + 19123937 100271650 ABBA01020779;AC020915;AMYH02036531;NG_010183 RPS15A_12_1675 pseudo HGNC:36803 INFERRED 2305152 RPS16P4 ribosomal protein S16 pseudogene 4 3 3 3 p22 37171258 37171693 + 37237725 37238160 + 37196234 37196669 + 19123937 100271068 ABBA01024852;AC097359;AMYH02006557;NG_011135 RPS16_2_363 pseudo HGNC:36502 INFERRED 2305110 RPS16P5 ribosomal protein S16 pseudogene 5 INTERACTS WITH formaldehyde; paracetamol 6 6 6 p12.1 54861419 54864970 - 53199258 53202415 - 53334460 53337617 - 6480464 14702039;19123937 647190 ABBA01050538;AK097937;AL034374;AMYH02013748;NG_034263;NR_046241 Hs.520189 RPS16_3_702 pseudo HGNC:36183 VALIDATED 2305885 RPS16P7 ribosomal protein S16 pseudogene 7 16 16 16 p13.3 2596678 2597164 - 2382248 2382734 - 2332247 2332733 - 19123937 441744 ABBA01030262;AC106820;AMYH02031251;NG_010756;NG_011790 RPS16_4_1467 pseudo HGNC:36505 INFERRED 2305355 RPS16P8 ribosomal protein S16 pseudogene 8 17 17 17 q11.1 22468888 22469420 + 25607455 25607987 + 27280429 27280961 + 19123937 654170 ABBA01015073;AC026254;AMYH02033207;NG_010473 RPS16_4_1529 pseudo HGNC:35608 INFERRED 2304787 RPS16P6 ribosomal protein S16 pseudogene 6 11 11 11 q13 61975075 61975485 + 64649007 64649417 + 64881535 64881945 + 19123937 100271362 ABBA01024139;AP001187;NG_009966 1799732;1828736;1971890;1971892;1971894;1971896;1971898;1971900;1971902;1971904;1971906;1971908;1971910;1971912;1971914 ECD00720;ECD15495;REN56830;REN56831;REN56832;REN56833;REN56834;REN56835;REN56836;REN56837;REN56838;REN56839;REN56840;REN56841;REN56842 RPS16_3_1149 pseudo HGNC:36741 INFERRED 1352565 RPS17L3 ribosomal protein S17-like 3, G1-phase expressed 8123253 6221 HGNC:10400 1342727 RPS17P1 ribosomal protein S17 pseudogene 1 6 6 6 p22.1 31063022 31063514 - 29456978 29457470 - 29489201 29489693 - 19123937 442195 ABBA01038032;AL645927;AL662869;AMYH02013412;BX000531;BX247947;BX927133;CR388393;CR759768;CR759956;NG_008917 RPS17_3_674;RPS17p;dJ994E9.1 pseudo HGNC:13982 INFERRED 2305149 RPS17P10 ribosomal protein S17 pseudogene 10 3 3 3 q24 141997333 141997809 - 143574531 143575007 - 143855689 143856165 - 19123937 100271071 ABBA01059011;AC107421;AMYH02007830;NG_011152 RPS17_2_414 pseudo HGNC:36438 INFERRED 2305148 RPS17P11 ribosomal protein S17 pseudogene 11 5 5 5 q11.2 48529037 48529388 + 51578345 51578696 + 52282511 52282862 + 19123937 100271072 ABBA01015714;AC116357;AMYH02011288;NG_011156 RPS17_4_560 pseudo HGNC:36132 INFERRED 2305153 RPS16P3 ribosomal protein S16 pseudogene 3 2 2 2 q21.2 135678250 135678603 - 141965651 141966004 - 141208082 141208435 - 19123937 100271067 ABBA01028101;AC068287;AMYH02004898;NG_011126 RPS16_2_279 pseudo HGNC:35986 INFERRED 2305147 RPS17P13 ribosomal protein S17 pseudogene 13 7 7 7 p14.2 37140850 37141227 + 37156413 37156790 + 37116808 37117185 + 19123937 100271073 ABBA01056913;AC009196;AC247049;CH236951;NG_011159 RPS17_6_804 pseudo HGNC:36664 INFERRED 5132149 RPS17L ribosomal protein S17-like ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN translation (inferred); FOUND IN ribosome (inferred) 15 83205504 83215062 - 6480464 22145905;22505724;22863883;23398456 100505503 H0YN73;H0YN88 AC010724;AK311951;BC009407;BC019899;BC020453;BC022370;BC049824;BC062715;BC070222;BC071928;M13932;NM_001199057;XM_005272417 AAA60284;AAH09407;AAH19899;AAH22370;AAH49824;AAH62715;AAH70222;AAH71928;BAG34891;NP_001185986;P0CW22;XP_005272474 Hs.433427;Hs.512525 1677951;1744099;1852017;2010716;2177354;5093602 D15S1199;G32815;GDB:388551;REN76280;RH67507;RH71452 40S ribosomal protein S17-like protein-coding ENSG00000182774 HGNC:40029 VALIDATED 1351474 RPS17 ribosomal protein S17 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014] 15 15 15 q 61370488 61374192 + 82821161 82824865 - 82536753 82540457 - 1580863;6480464;7240710;8554872;8699517 12477932;12588972;14702039;15189156;15345747;15489334;15635413;1577483;15883184;16196087;16572171;17620599;17647292;18412286;18457437;18669648;18697920;19061985;19369195;19690332;19738201;19946888;20020773;20068231;20301769;20378560;20639865;21078624;21139048;21145461;21269460;21319273;21406692;21693764;21890473;21906983;21942715;21963094;21987572;22045982;22145905;22174317;22262766;22398290;22505724;22623428;22810585;22863883;22939629;22944692;23000965;23184937;23246001;23398456;23438482;23443559;23455922;24457600;24583282;24654937;24675553;24816145;25015289;25036637;3240863;3529092;6188845;7661859;8318536;8706699;8722009;8878544;9582194;9847074 6218 P08708;P0CW22 ABBA01029417;AC010724;AC135995;AC245033;AK311951;BC009407;BC019899;BC020453;BC022370;BC049824;BC062715;BC070222;BC071928;BE905890;BI597659;BM017772;BM457623;CH471188;DA310472;HB872555;HB874908;HC929964;HC932317;M13932;M18000;NG_009890;NM_001021;NR_111943;NR_111944 AAA60284;AAA60285;AAH09407;AAH19899;AAH22370;AAH49824;AAH62715;AAH70222;AAH71928;ABM84306;ABM87700;BAG34891;CBF60332;CBF61828;CBU85576;CBU86704;EAW62453;EAW62454;EAW62455;NP_001012;P08708 Hs.433427;Hs.512525 1677951;1744099;1852017;2010716;2177354;5093602 D15S1199;G32815;GDB:388551;REN76280;RH67507;RH71452 DBA4;MGC72007;RPS17L;RPS17L1;RPS17L2;S17 40S ribosomal protein S17;OTTHUMP00000190866 APPROVED protein-coding ENSG00000182774 HGNC:10397 01600 180472;612527 REVIEWED 2305146 RPS17P14 ribosomal protein S17 pseudogene 14 8 8 8 q23.1 105578541 105578927 - 109391388 109391774 - 108379159 108379545 - 19123937 100271074 ABBA01037704;AMYH02018589;AP002088;NG_011164 RPS17_6_941 pseudo HGNC:35534 INFERRED 2304786 RPS17P15 ribosomal protein S17 pseudogene 15 11 11 11 q23.1 108129457 108129784 - 110976292 110976619 - 111105568 111105895 - 19123937 100271363 ABBA01039825;AMYH02025570;AP003973;NG_009973 RPS17_7_1173 pseudo HGNC:35931 INFERRED 2304935 RPS17P17 ribosomal protein S17 pseudogene 17 X X X q27.1 139925142 139925550 - 139553031 139553439 - 140470866 140471274 - 19123937 100271230 ABBA01066148;AL121875;AMYH02040622;NG_010652 RPS17_8_1818 pseudo HGNC:35647 INFERRED 2305478 RPS17P16 ribosomal protein S17 pseudogene 16 22 22 22 q12.3 16235932 16236432 + 32435452 32435952 + 32039465 32039965 + 12477932;19123937 402057 ABBA01055362;AMYH02038260;CH471095;NG_010713;NG_017045;Z74021 EAW60005 1823924;2010700;2010702;2010704;2010706;2010708;2010710;2010712;2010714;2010716;2010718;2010720;2098194 ECD13056;REN76271;REN76272;REN76273;REN76275;REN76276;REN76277;REN76278;REN76279;REN76280;REN76281;REN76282;stSG602477 RPS17_8_1748 pseudo HGNC:36821 INFERRED 1344055 RPS17P2 ribosomal protein S17 pseudogene 2 INTERACTS WITH N-acetyl-1,4-benzoquinone imine 5 5 5 q23.1 112001413 112001891 + 116051914 116052392 + 116716218 116716696 + 6480464 19123937;3240863;3459254 6219 ABBA01069021;AC091986;AC126767;AMYH02012014;NG_003033 2010716 REN76280 RPS17A;RPS17L1;RPS17_5_604 pseudo HGNC:10398 INFERRED 2304392 RPS16P9 ribosomal protein S16 pseudogene 9 19 19 19 q13.32 42641828 42642386 - 45835887 45836446 - 45332629 45333188 - 19123937 645412 ABBA01040922;AC112705;AMYH02036198;NG_010193 RPS16_5_1659 pseudo HGNC:35659 INFERRED 1353406 RPS17P3 ribosomal protein S17 pseudogene 3 17 17 17 q11.2 26080029 26080512 + 29157895 29158378 + 30830877 30831360 + 19123937;19291764;3240863;3459254 646013 ABBA01014985;AC127024;AMYH02033282;NG_009636 1753469 SHGC-107412 RPS17B;RPS17L2;RPS17_7_1537 pseudo HGNC:10399 INFERRED 1346959 RPS17P5 ribosomal protein S17 pseudogene 5 INTERACTS WITH N-acetyl-1,4-benzoquinone imine 6 6 6 p12.3 52380830 52381308 - 50824922 50825400 - 50857209 50857687 - 6480464 19123937;3240863 442216 ABBA01050577;AL049693;AMYH02013720;NG_005089 RPS17L4;RPS17_4_700;dJ753D5.2 pseudo HGNC:21352 INFERRED 2304370 RPS17P6 ribosomal protein S17 pseudogene 6 1 1 1 q24.1 140236733 140237215 - 167131617 167132099 - 167162380 167162862 - 19123937 391130 ABBA01047252;AL451050;AMYH02002084;NG_011125 RPS17_1_116 pseudo HGNC:36945 INFERRED 1350895 RPS17P4 ribosomal protein S17 pseudogene 4 85966 HGNC:19430 2305151 RPS17P7 ribosomal protein S17 pseudogene 7 2 2 2 q14 115392223 115392643 + 122067572 122067992 + 121309996 121310416 + 19123937 100271069 ABBA01032239;AC013399;AMYH02004673;NG_011141 RPS17_1_271 pseudo HGNC:35796 INFERRED 2305150 RPS17P8 ribosomal protein S17 pseudogene 8 2 2 2 q32 187233622 187233964 + 193638808 193639150 + 192774082 192774424 + 19123937 100271070 ABBA01062411;AC013401;AMYH02005465;NG_011147 RPS17_2_307 pseudo HGNC:36772 INFERRED 737248 RPS16 ribosomal protein S16 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 36725537 36728308 - 39923847 39926660 - 39433207 39436020 - 6480464;8554872 11082045;11101529;11790298;11875025;12082018;12477932;12588972;12777385;14702039;15189156;15489334;15635413;15883184;16196087;16712791;17203973;17220478;17353931;17361185;17881366;18274552;18318121;18457437;18483487;18697920;18781797;19417104;19559069;19596686;19738201;19773262;19805454;19946888;20020773;2016298;20198863;20639865;20811636;21139048;21145461;21182205;21319273;21693764;21832049;21853274;21890473;21906983;21963094;21987572;22145905;22178446;22505724;22586326;22623428;22810585;22863883;22939629;23000965;23184937;23246001;23398456;23443559;23463506;24244333;24250222;24337577;24457600;24657165;24816145;6188845;7821789;8706699;8722009;8889548;9582194 6217 M0QX76;M0R1M5;M0R210;M0R3H0;P62249;Q6IPX4 AB061841;ABBA01040730;AC011500;AK055869;AK315498;AMYH02036094;BC004324;BC007977;BC024970;BC071674;BC095429;BQ421722;CB107158;CB242275;CH471126;D28392;FB342983;FB711106;M60854;NM_001020;XM_005259137 AAA60583;AAH04324;AAH07977;AAH71674;ABM84375;ABM87218;BAA05758;BAB79479;BAG37882;CAR81492;CAS91508;EAW56892;EAW56893;EAW56894;EAW56895;NP_001011;P62249;XP_005259194 Hs.397609 1655253;2163026;2176368;5037552 D8S2279;G31561;HUM0S11D12;RP_S16_1 S16 40S ribosomal protein S16 APPROVED protein-coding ENSG00000105193 HGNC:10396 04724 603675 REVIEWED 2305749 RPS17P9 ribosomal protein S17 pseudogene 9 3 3 3 q22.1 128131059 128144904 + 129703935 129717779 + 129985092 129998936 + 19123937 100130823 ABBA01059211;AC083906;AMYH02007654;NG_010005 1721243;5094332 G54717;G59468 RPS17_3_404 pseudo HGNC:36160 INFERRED 1347004 RPS18P1 ribosomal protein S18 pseudogene 1 20 20 20 p12.3 5584359 5584816 + 5513524 5513981 + 5532878 5533335 + 10718198;11780052;14702039;15489334;19123937 128676 ABBA01053880;AL109935;AMYH02036643;NG_000970 RPS18_9_1682;dJ1022P6.1 pseudo HGNC:16550 INFERRED 2305143 RPS18P11 ribosomal protein S18 pseudogene 11 8 8 8 q13.3 67334006 67334537 - 71336323 71336854 - 70424088 70424619 - 19123937 100271077 ABBA01041940;AC022730;AMYH02018173;NG_011179 RPS18_3_913 pseudo HGNC:36319 INFERRED 2304483 RPS18P10 ribosomal protein S18 pseudogene 10 6 6 6 q24.1 141984220 141984757 - 141243554 141244091 - 140922417 140922954 - 19123937 729293 ABBA01025773;AL357084;AMYH02014615;NG_011382 RPS18_2_763 pseudo HGNC:35566 INFERRED 1342484 RPS18 ribosomal protein S18 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34794207 34798639 + 33239852 33244281 + 33272075 33276504 + 6480464;8554872 11790298;12145273;12477932;12588972;14574404;15189156;15532723;15576338;15635413;15883184;16196087;17361185;18259216;18457437;18685789;1872840;19056867;19167051;19596686;19738201;19805454;19834535;19850743;19851445;19946888;20020773;21139048;21145461;21182203;21182205;21256985;21319273;21575865;21693764;21832049;21853274;21890473;21906983;21963094;21987572;22113938;22145905;22178446;22505724;22623428;22797925;22810585;22863883;22939629;23000965;23184937;23246001;23398456;23438482;23443559;23455922;23463506;24816145;6188845;7923143;8441687;8706699;8722009;9582194 6222 J3JS69;P62269;Q5GGW2 ABBA01038139;AL031228;AL645940;AL662820;AL662827;AL713971;AL844527;AMYH02013483;AY536376;BC070230;BC101786;BC101788;BC106063;BX248408;CH471081;CR759786;CR759817;NM_022551;X69150 AAI01787;AAI01789;AAI06064;AAT66049;CAA20231;CAB56794;EAX03694;EAX03695;EAX03696;EAX03697;EAX03698;EAX03699;NP_072045;P62269 Hs.448854;Hs.627414 1685556;1689017;5014728;5023395;5108351;5491346 D6S1905;RH64826;RH77;Sacm2l;WI-15797;stSG602121 D6S218E;HKE3;KE-3;KE3;MGC117351;MGC126835;MGC126837;S18 40S ribosomal protein S18;OTTHUMP00000029059;rhabdomyosarcoma antigen MU-RMS-40.21 APPROVED protein-coding ENSG00000231500 HGNC:10401 01601 180473 REVIEWED 2305516 RPS17P12 ribosomal protein S17 pseudogene 12 7 7 7 q33 132721489 132721935 - 137982806 137983252 - 138298061 138298507 - 12690205;19123937 442726 ABBA01001161;AC008155;AMYH02016860;CH236950;CH471070;NG_009855 EAL24048;EAW83883 RPS17_5_854 pseudo HGNC:35930 INFERRED 2305714 RPS18P14 ribosomal protein S18 pseudogene 14 22 22 22 q12.2 15755910 15756445 + 31955428 31955963 + 31559442 31559977 + 19123937 100128535 ABBA01055340;AL096701;AMYH02038244;NG_010112 1827122;1838574;1844624;2007008;2007010;2007012;2007014;2007016;2007018;2007020;2007022;2007024;2007026;2007028;2007030 ECD14676;ECD20461;ECD23526;REN74420;REN74421;REN74422;REN74423;REN74424;REN74425;REN74426;REN74427;REN74428;REN74429;REN74430;REN74431 RPS18_10_1747 pseudo HGNC:36386 INFERRED 2305833 RPS18P3 ribosomal protein S18 pseudogene 3 1 1 1 q42.13 200809418 200809955 + 227618183 227618720 + 227430482 227431019 + 19123937 100128258 ABBA01009613;AL606462;AMYH02002828;NG_009969 RPS18_2_171 pseudo HGNC:36198 INFERRED 1351157 RPS18P2 ribosomal protein S18 pseudogene 2 14 14 14 q32.11 71281406 71281938 + 91232839 91233371 + 90766495 90767027 + 19123937 326320 ABBA01030497;AL122020;AMYH02029731;NG_002570 RPS18_7_1400 pseudo HGNC:19801 INFERRED 2305216 RPS18P5 ribosomal protein S18 pseudogene 5 3 3 3 q12.3 99687650 99688189 - 101295295 101295834 - 101576451 101576990 - 11181995;19123937;21145461 100131863 ABBA01061774;AC073861;AMYH02007316;CH471052;NG_010113 EAW79788;EAW79789 1689017 RH64826 RPS18;RPS18_1_389 pseudo HGNC:36287 INFERRED 2305144 RPS18P6 ribosomal protein S18 pseudogene 6 3 3 3 q11.2 93278358 93278639 + 94890940 94891221 + 95172096 95172377 + 19123937 100271076 ABBA01026961;AC108695;AC108715;AMYH02007258;NG_011173 RPS18_3_386 pseudo HGNC:36028 INFERRED 2304875 RPS18P7 ribosomal protein S18 pseudogene 7 5 5 5 q14.3 86552312 86552843 + 90650257 90650788 + 91354440 91354971 + 19123937 133790 ABBA01062167;AC008799;AMYH02011786;NG_010832 RPS18_4_595 pseudo HGNC:35874 INFERRED 2305761 RPS18P8 ribosomal protein S18 pseudogene 8 6 6 6 p25.1 6207985 6208488 + 4979263 4979766 + 4979029 4979532 + 19123937 643627 ABBA01022004;AL359643;AMYH02013023;NG_011359 2218900 UniSTS:463427 RPS18_5_650 pseudo HGNC:35956 INFERRED 2305806 RPS18P9 ribosomal protein S18 pseudogene 9 INTERACTS WITH cadmium atom 6 6 6 q25.1 150650217 150650759 + 149914752 149915738 + 149593616 149594602 + 6480464 12477932;19123937 645958 ABBA01025677;AL078581;AMYH02014695;BC071678;BQ020488;EB387363;NR_077247 Hs.632614 1659156;1689017;1774986;5014728;5023395 D6S1905;RH46571;RH64826;SHGC-32611;WI-15797 RPS18_6_767 pseudo HGNC:36483 VALIDATED 1349522 RPS19P1 ribosomal protein S19 pseudogene 1 20 20 20 p11.23 18559287 18559810 + 18485225 18485748 + 18504581 18505104 + 10753603;19123937 85486 ABBA01054047;AF242191;AL121893;AMYH02036780;NG_001295;NG_016281 RPS19_3_1688;bA189K21.7 pseudo HGNC:16534 INFERRED 1602664 RPS19BP1 ribosomal protein S19 binding protein 1 ENCODES a protein that exhibits enzyme binding; poly(A) RNA binding; FOUND IN cytoplasm; nucleolus; nucleoplasm (ortholog); INTERACTS WITH cyclosporin A; hydralazine; valproic acid 22 22 22 q13.1 23727166 23730928 - 39925098 39928860 - 39529093 39532855 - 6480464 10591208;12477932;14702039;15461802;15489334;16289379;17964266;18029348;22990118;23000965;23349863;23382074;23548308;24250222;24258275;24457600;24681097;24816145 91582 F8WFE7;Q86WX3 ABBA01055574;AK025423;AK055865;AL022312;AMYH02038384;BC037573;BC047711;CH471095;CR456443;NM_194326 AAH37573;AAH47711;CAG30329;CAK54472;CAK54771;EAW60343;EAW60344;NP_919307;Q86WX3 Hs.526933 1660027;1660258;1777288;2162747;5015881;5118444 D11S3316;GDB:335751;RH41880;RH78005;STS-W60308;WI-18448 AROS;FLJ21770;MGC52010;S19BP;dJ1104E15.4 40S ribosomal protein S19-binding protein 1;OTTHUMP00000199132;RPS19-binding protein 1;active regulator of SIRT1;homolog of mouse S19 binding protein protein-coding ENSG00000187051 HGNC:28749 14674 610225 PROVISIONAL 731753 RPS14 ribosomal protein S14 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. In Chinese hamster ovary cells, mutations in this gene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q31-q33 145904832 145910362 - 149822712 149829351 - 150444229 150449786 - 6480464;7240710;8699517 12477932;12588972;15189156;15231748;15489334;1549121;15840729;15883184;16189514;16196087;16713569;17353931;17643375;18202658;18274552;18457437;18650472;18781797;18851979;19135240;19596686;19738201;19773262;19794090;19805454;19946888;20020773;20193850;20491881;20877624;21068437;21139048;21145461;21182205;21319273;21832049;21853274;21873545;21890473;21906983;21942715;21963094;21987572;21988832;22145905;22178446;22391559;22430631;22525275;22586326;22589738;22623428;22863883;22939629;23000965;23184937;23246001;23246961;23398456;23443559;23455922;23463506;23506134;23775087;23943650;24244333;24457600;24583282;24657165;24816145;3529092;3683397;3785212;6188845;7177110;7821789;7867928;8076819;8706699;8722009;9152021;9582194 6208 E5RH77;H0YB22;P62263 AA467888;ABBA01026280;AC011388;AK312179;AMYH02012459;BC001126;BC003401;BC006784;BC020515;BC091474;BC110792;BM454896;BM557014;CH471062;D28352;M13934;NM_001025070;NM_001025071;NM_005617;XM_006714790 AAB59504;AAB59505;AAH01126;AAH03401;AAH06784;AAH20515;AAH91474;ABM81890;ABM85062;BAA05718;BAG35112;EAW61723;EAW61724;EAW61725;EAW61726;NP_001020241;NP_001020242;NP_005608;P62263;XP_006714853 Hs.744846 1667173;1728669;2123019;5109641 D5S1419;D5S1606E;G63626;RP_S14_1 EMTB;S14 40S ribosomal protein S14;OTTHUMP00000160559;OTTHUMP00000224341;OTTHUMP00000224342;OTTHUMP00000224343;emetine resistance APPROVED protein-coding ENSG00000164587 HGNC:10387 00562 130620;153550 REVIEWED 1352216 RPS19P2 ribosomal protein S19 pseudogene 2 1 1 1 p13.2 111941349 111941789 + 113711611 113712051 + 113168989 113169429 + 10753603;19123937 85487 ABBA01068450;AF242192;AL357055;AMYH02001761;NG_001296 RPS19_1_86 pseudo HGNC:17047 INFERRED 2304785 RPS18P13 ribosomal protein S18 pseudogene 13 19 19 19 p13.1 18061145 18061650 + 18159439 18159944 + 18048629 18049134 + 19123937 100271364 ABBA01051244;AC020904;AMYH02035720;NG_009978 RPS18_8_1634 pseudo HGNC:36901 INFERRED 2303463 RPS19P3 ribosomal protein S19 pseudogene 3 14 14 14 q13.2 14902017 14902516 - 35037858 35038375 - 34568652 34569169 - 19123937 728953 ABBA01061465;AL445363;AMYH02028992;NG_009541 2191663 MARC_4171-4172:996679463:3 RPS19_4_1350 pseudo HGNC:23560 INFERRED 2304966 RPS19P4 ribosomal protein S19 pseudogene 4 5 5 5 q11.2 49663067 49663706 + 52709307 52710090 + 53413477 53414260 + 19123937 100132049 ABBA01015718;AC108114;AMYH02011292;AMYH02011293;NG_011084 RPS19_2_563 pseudo HGNC:35778 INFERRED 2305599 RPS19P5 ribosomal protein S19 pseudogene 5 6 6 6 q21 111629991 111637179 - 110883378 110890566 - 110562175 110569363 - 19123937 100131286 ABBA01026114;AL512430;AMYH02014287;NG_011109 RPS19_1_737 pseudo HGNC:35850 INFERRED 2305142 RPS19P6 ribosomal protein S19 pseudogene 6 9 9 9 q21.31 53974561 53974999 - 83397247 83397685 - 80782332 80782770 - 19123937 100271078 ABBA01033963;AL353707;AMYH02021075;NG_011181 RPS19_2_988 pseudo HGNC:36217 INFERRED 2304641 RPS18P12 ribosomal protein S18 pseudogene 12 17 17 17 p12 14632983 14633521 - 14608355 14608893 - 14705038 14705576 - 19123937 388339 ABBA01055035;AC013248;AMYH02033043;NG_011261 RPS18_4_1516 pseudo HGNC:35967 INFERRED 2305353 RPS19P7 ribosomal protein S19 pseudogene 7 10 10 10 q11.21 41571717 41574534 - 45568537 45571354 - 45073089 45075906 - 19123937 728509 ABBA01050024;AL358394;AMYH02022732;NG_010974 RPS19_3_1038 pseudo HGNC:35550 INFERRED 2305139 RPS20P10 ribosomal protein S20 pseudogene 10 2 2 2 p13.2 72061310 72061567 - 72211307 72211564 - 71984177 71984434 - 19123937 100271081 ABBA01075562;AC067950;AMYH02004059;NG_011200 RPS20_3_240 pseudo HGNC:36800 INFERRED 1348390 RPS20P1 ribosomal protein S20 pseudogene 1 21 21 21 q22.12 22296215 22296673 - 37097006 37097464 - 35724708 35725166 - 10830953;19123937 54025 ABBA01057373;AF015720;AMYH02037766;NG_000906;NG_011402 RPS20P;RPS20_16_1728 ribosomal protein s20, pseudogene 1 pseudo HGNC:10408 INFERRED 2305145 RPS18P4 ribosomal protein S18 pseudogene 4 1 1 1 q24 140669858 140670385 + 167560586 167561113 + 167591349 167591876 + 19123937 100271075 ABBA01047242;AL031733;AMYH02002092;NG_011169 RPS18_1_117 pseudo HGNC:36952 INFERRED 2305138 RPS20P11 ribosomal protein S20 pseudogene 11 2 2 2 q13 106764873 106765389 - 113379328 113379844 - 112621751 112622267 - 19123937 100271082 ABBA01074254;AC079922;AMYH02004591;NG_011209 RPS20_4_266 pseudo HGNC:36084 INFERRED 2305137 RPS20P12 ribosomal protein S20 pseudogene 12 2 2 2 q37.1 228958716 228959187 + 235238046 235238517 + 234329402 234329873 + 19123937 100271083 ABBA01001957;AC097713;AMYH02006020;NG_011214 RPS20_4_337 pseudo HGNC:36519 INFERRED 2305136 RPS20P13 ribosomal protein S20 pseudogene 13 2 2 2 q22.3 143341683 143342208 - 149627511 149628036 - 148869942 148870467 - 19123937 100271084 ABBA01028000;AC105402;AMYH02004958;NG_011218 RPS20_5_284 pseudo HGNC:36071 INFERRED 2304866 RPS20P14 ribosomal protein S20 pseudogene 14 3 3 3 q27.3 185049819 185050343 + 186617862 186618386 + 186900073 186900597 + 19123937 440992 ABBA01058379;AC007690;AMYH02008356;NG_005532 2111888 D3S4060 RPS20_6_446 pseudo HGNC:36692 INFERRED 2305135 RPS20P15 ribosomal protein S20 pseudogene 15 3 3 3 p22 27440275 27440588 + 27503997 27504310 + 27462506 27462819 + 19123937 100271085 ABBA01025000;AC099535;AMYH02006441;NG_011227;NG_032673 RPS20_5_351 pseudo HGNC:36340 INFERRED 2305134 RPS20P16 ribosomal protein S20 pseudogene 16 5 5 5 q15 92163117 92163412 + 96278598 96278893 + 96942894 96943189 + 19123937 100271086 ABBA01069226;AC008850;AMYH02011834;NG_011233 RPS20_7_597 pseudo HGNC:35851 INFERRED 2304934 RPS20P18 ribosomal protein S20 pseudogene 18 6 6 6 q21 111768228 111768711 + 111021643 111022126 + 110700440 110700923 + 19123937 100271231 ABBA01026111;AL512430;AMYH02014289;NG_010657 RPS20_10_738 pseudo HGNC:36937 INFERRED 2305132 RPS20P17 ribosomal protein S20 pseudogene 17 5 5 5 q35.3 171727832 171728179 - 176773079 176773426 + 177346078 177346425 + 19123937 100271088 ABBA01033457;AC146507;AMYH02012834;NG_011240 RPS20_9_642 pseudo HGNC:35822 INFERRED 2305515 RPS20P19 ribosomal protein S20 pseudogene 19 7 7 7 q36.1 146851873 146852391 - 152287631 152288149 - 152590546 152591064 - 19123937 644309 ABBA01035124;AC104843;AMYH02017096;NG_011101 RPS20_7_863 pseudo HGNC:36503 INFERRED 68661 RPS19 ribosomal protein S19 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 39163675 39175171 + 42363988 42375484 + 41859918 41871416 + 1599571;1599572;1580863;6480464;7240710;8699517;8554872 15523650;9988267 10590074;10598818;10662814;11112378;11226885;11716516;11733378;11942409;12477932;12586610;12588972;12651630;12750732;1339304;15047060;15075082;15189156;15330156;15489334;15626736;15635413;15750715;15755903;15883184;16159874;16159877;16196087;16266891;16289379;16990592;17053056;17082006;17107358;17178250;17199736;17267499;17353931;17356406;17361185;17517689;17620599;17962699;18412286;18697920;18768533;19155217;19338310;19380743;19454283;19587786;19689926;19738201;19773279;19913121;19946888;20054847;20093496;20301769;20378560;20395159;20473571;20568250;20606162;20628086;20639905;20811636;21068437;21139048;21145461;21151833;21296889;21306436;21319273;21412415;21613290;21832049;21853274;21890473;21906983;21963094;21988832;22045982;22145905;22178446;22262766;22496757;22505724;22586326;22623428;22689679;22833095;22863883;22939629;22944692;23000965;23184937;23246001;23398456;23443559;23455922;23463506;24113185;24244333;24457600;24463277;24583282;24816145;6188845;8706699;8722009;9582194 6223 B0ZBD0;M0QXK4;M0QYF7;M0R140;M0R2L9;P39019 AB007155;ABBA01040816;AC010616;AC243967;AF092907;AK311786;BC000023;BC007615;BC017386;BC018616;CH471126;CS401981;EU326300;M81757;NG_007080;NM_001022 AAA89070;AAD13668;AAH00023;AAH07615;AAH17386;AAH18616;ABM82749;ABW03437;ACA05898;BAA28593;BAG34729;CAL40359;EAW57071;EAW57072;EAW57073;EAW57074;NP_001013;P39019 Hs.438429 1769593;5016830 RH79941;RP_S19_1 DBA;DBA1;S19 40S ribosomal protein S19 APPROVED protein-coding HGNC:10402 04591 105650;603474 REVIEWED 2304932 RPS20P20 ribosomal protein S20 pseudogene 20 8 8 8 q13 68807686 68808023 + 72808230 72808567 + 71895995 71896332 + 19123937 100271233 ABBA01041952;AC022867;AMYH02018189;NG_010667 RPS20_11_915 pseudo HGNC:36674 INFERRED 1345020 RPS20P2 ribosomal protein S20 pseudogene 2 16 16 16 p13.3 1592931 1594114 + 1378627 1379810 + 1328626 1329809 + 64726 ABBA01030312;AL031714;AMYH02031226;NG_009635;NG_033974 1653716;2183750 SHGC-60704;SHGC-61088 pseudo HGNC:14195 INFERRED 2304931 RPS20P21 ribosomal protein S20 pseudogene 21 8 8 8 q21.11 70892074 70892599 + 74894224 74894749 + 73981989 73982514 + 19123937 100271234 ABBA01041977;AC022868;AMYH02018231;NG_010674;NG_016618 2114334;2171472 D8S2076;WI-15063 RPS20_12_916 pseudo HGNC:35993 INFERRED 2305133 RPS20P22 ribosomal protein S20 pseudogene 22 8 8 8 p12 37244850 37245353 - 38291855 38292358 - 38434337 38434840 - 19123937 100271087 ABBA01023533;AC087623;AMYH02017831;NG_011236 RPS20_8_895 pseudo HGNC:36379 INFERRED 2305131 RPS20P23 ribosomal protein S20 pseudogene 23 8 8 8 q22.3 97974127 97974483 - 101788740 101789096 - 100776512 100776868 - 19123937 100271089 ABBA01037586;AMYH02018508;AP004195;NG_011244 RPS20_9_932 pseudo HGNC:36146 INFERRED 2304933 RPS20P24 ribosomal protein S20 pseudogene 24 9 9 9 q21.12 45843618 45844128 - 75270698 75271208 - 72655782 72656292 - 19123937 100271232 ABBA01033863;AL591662;AMYH02020984;NG_010663 RPS20_10_984 pseudo HGNC:36283 INFERRED 2305544 RPS20P26 ribosomal protein S20 pseudogene 26 11 11 11 p11.2 47351921 47352436 - 47212678 47213193 - 47191127 47191642 - 19123937 646660 ABBA01060721;AC090589;AMYH02024726;NG_011349 RPS20_11_1143 pseudo HGNC:36980 INFERRED 2305793 RPS20P27 ribosomal protein S20 pseudogene 27 11 11 11 q14.1 74832610 74833130 - 77524322 77524842 - 77813276 77813796 - 12477932;19123937 729927 ABBA01017421;AMYH02025144;AP000580;BC071734;NG_010383 Hs.660751 5038567 D3S3911 RPS20_12_1158 pseudo HGNC:36154 INFERRED 2304549 RPS20P28 ribosomal protein S20 pseudogene 28 12 12 12 p13 9724436 9724744 - 8147366 8147674 - 7994770 7995078 - 19123937 100271560 ABBA01012231;AC006511;AMYH02025986;NG_011035 RPS20_13_1202 pseudo HGNC:36452 INFERRED 2304548 RPS20P29 ribosomal protein S20 pseudogene 29 12 12 12 p13.31 9591131 9591446 + 8013045 8013360 + 7860449 7860764 + 19123937 100271561 ABBA01012215;AC006517;AMYH02025977;NG_011040 RPS20_14_1201 pseudo HGNC:36237 INFERRED 1348542 RPS20P3 ribosomal protein S20 pseudogene 3 5 5 5 q21.3 103867226 103867742 + 107929185 107929701 + 108593484 108594000 + 19123937;3459254 6225 ABBA01069101;AC133134;AMYH02011940;NG_003034 RPS20A;RPS20_8_599 pseudo HGNC:10406 180463 INFERRED 2304547 RPS20P30 ribosomal protein S20 pseudogene 30 12 12 12 q24.33 130315815 130316165 - 130701352 130701702 - 130216807 130217157 - 19123937 100271562 ABBA01019806;AC026336;AMYH02027550;NG_011045 RPS20_14_1295 pseudo HGNC:36626 INFERRED 2304546 RPS20P31 ribosomal protein S20 pseudogene 31 12 12 12 q24.2 120318363 120318694 + 120685263 120685594 + 120247460 120247791 + 19123937 100271563 ABBA01020101;AC004263;AMYH02027366;NG_011049;NG_029820 RPS20_15_1287 pseudo HGNC:35767 INFERRED 2305342 RPS20P32 ribosomal protein S20 pseudogene 32 13 13 13 q12.13 8660589 8661100 - 27591561 27592072 - 27017424 27017935 - 19123937 100129306 ABBA01035754;AL160035;AMYH02027742;CH471075;NG_010130 EAX08391 1337967 D13S625 RPS20_15_1306 pseudo HGNC:36444 INFERRED 2304545 RPS20P33 ribosomal protein S20 pseudogene 33 14 14 14 q32.3 85889428 85889778 + 105840958 105841308 + 105374621 105374971 + 19123937 100271564 ABBA01008876;AL928654;AMYH02029966;NG_011056 RPS20_16_1416 pseudo HGNC:36725 INFERRED 2304544 RPS20P34 ribosomal protein S20 pseudogene 34 15 15 15 q21.1 27651397 27651915 + 50758817 50759335 + 50466620 50467138 + 19123937 100271565 ABBA01039112;AC012170;AMYH02030406;NG_011060 RPS20_17_1430 pseudo HGNC:36668 INFERRED 2304543 RPS20P35 ribosomal protein S20 pseudogene 35 17 17 17 q 33672416 33672926 + 37011447 37011957 + 38855194 38855704 + 19123937 100271566 ABBA01031894;AC110749;AMYH02033366;NG_011067 RPS20_18_1544 pseudo HGNC:36929 INFERRED 736603 RPS20 ribosomal protein S20 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2009] 8 8 8 q12 52972573 52978977 - 56980739 56987140 - 56068180 56074581 - 6480464;8554872 11875025;12107412;12477932;12588972;15189156;15231747;15489334;15883184;16196087;16712791;16968546;17220478;17361185;17373842;18029348;18274552;18391951;18624398;18781797;19167051;19380743;19738201;19946888;20020773;20546612;20972266;21139048;21145461;21182205;21319273;21832049;21853274;21890473;21906983;21963094;21987572;21988832;22053931;22145905;22268729;22505724;22534017;22623428;22863883;22939629;22990118;23000965;23151878;23169665;23184937;23246001;23443559;23862649;23874713;24244333;24583282;24816145;25015289;6188845;7821789;8479924;8674114;8706699;8722009;9582194 6224 E5RIP1;E5RJX2;G3XAN0;P60866 AB007156;AB061842;ABBA01041759;ABBA01041760;AC107376;AK130961;AK301342;AK311808;AMYH02018018;AV716603;BC007507;BC087850;BQ064297;CB138358;CD671362;CH471068;D28358;L06498;NM_001023;NM_001146227 AAA60286;AAH07507;AAH87850;ABM84138;ABM87540;BAA05724;BAA25820;BAB79480;BAG34751;BAG62890;EAW86770;EAW86771;EAW86772;NP_001014;NP_001139699;P60866 Hs.8102 2184691;5038567;5094906 D3S3911;D8S1961;RPS20 FLJ27451;MGC102930;S20 40S ribosomal protein S20;OTTHUMP00000226396;OTTHUMP00000226397;OTTHUMP00000226399;OTTHUMP00000226402;OTTHUMP00000226403 APPROVED protein-coding HGNC:10405 04728 603682 REVIEWED 1348521 RPS20P4 ribosomal protein S20 pseudogene 4 5 5 5 q32 145482476 145483002 - 149401090 149401616 - 150021527 150022053 - 19123937;3459254 6226 ABBA01026288;AC011406;AMYH02012455;NG_003035;NG_021389 RPS20B;RPS20_6_627 pseudo HGNC:10407 180464 INFERRED 2305381 RPS20P5 ribosomal protein S20 pseudogene 5 1 1 1 p32.2 56356980 56357493 - 58071465 58071978 - 57605793 57606306 - 19123937 100270899 ABBA01074669;AL359739;AMYH02001087;AMYH02001088;NG_010270 RPS20_1_55 pseudo HGNC:36367 INFERRED 2305328 RPS20P6 ribosomal protein S20 pseudogene 6 1 1 1 p21 99983761 99984108 + 101721832 101722179 + 101256276 101256623 + 19123937 100270900 ABBA01045430;AL109741;AMYH02001566;NG_010273 RPS20_1_80 pseudo HGNC:35629 INFERRED 732314 RPS2 ribosomal protein S2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2224244 2227009 - 2012059 2014827 - 1962061 1964826 - 1580863;6480464 11751223;12422231;12477932;12588972;12694581;15189156;15303970;15324660;15473865;15489334;15635413;15883184;16051665;16061210;16159877;16169070;16196087;16263090;16964243;17081983;17361185;17620599;17643375;18274552;18457437;18464793;18573314;18781797;19138403;19287380;19738201;19805454;19946888;20020773;20811636;21139048;21145461;21182205;21319273;21584310;21890473;21900206;21906983;21942715;21963094;21987572;21988832;22053931;22145905;22174317;22178446;22505724;22586326;22623428;22751105;22863883;22939629;23000965;23084401;2308862;23125841;23166591;23246001;23398456;23443559;23463506;23612971;23824909;23862649;24244333;24457600;24583282;24654937;25015289;6188845;8706699;8722009;9582194 6187 E9PM36;E9PMM9;E9PPT0;E9PQD7;H0YE27;H0YEN5;H3BNG3;I3L404;P15880 AB007147;AB065088;AB065089;AB082925;ABBA01030285;AC005363;AK312173;AL832857;AMYH02031241;BC001795;BC004520;BC006559;BC008329;BC008862;BC010165;BC012354;BC013833;BC016178;BC016951;BC018993;BC019021;BC020336;BC021545;BC023541;BC025677;BC029979;BC032129;BC035427;BC040830;BC052235;BC063011;BC066321;BC068051;BC071673;BC071922;BC071923;BC071924;BC073966;BC075830;BC103756;BC105985;BC106060;CH471112;NM_002952;X17206 AAH01795;AAH04520;AAH06559;AAH08862;AAH10165;AAH12354;AAH16178;AAH16951;AAH18993;AAH21545;AAH23541;AAH25677;AAH32129;AAH66321;AAH68051;AAH71673;AAH71922;AAH71923;AAH71924;AAH73966;AAH75830;AAI03757;AAI05986;AAI06061;ABM83371;ABM86582;BAA25813;BAB93525;BAB93526;BAC16801;BAG35107;CAA35078;EAW85592;EAW85593;EAW85594;EAW85595;EAW85596;NP_002943;P15880 Hs.356366;Hs.381079;Hs.498569;Hs.506997 1649282;1712348;5124329 G54162;RH65663;RP_S2_1 LLREP3;MGC102851;MGC117344;MGC117345;S2 40S ribosomal protein S2;40S ribosomal protein S4;OK/KNS-cl.6;OTTHUMP00000158896;OTTHUMP00000231872;OTTHUMP00000231876;OTTHUMP00000231878;protein LLRep3 APPROVED protein-coding ENSG00000140988 HGNC:10404 04690 603624 REVIEWED 2305327 RPS20P7 ribosomal protein S20 pseudogene 7 1 1 1 p31.1 80294438 80294960 - 82061768 82062291 - 81596083 81596606 - 19123937 100270901 ABBA01074355;AL138799;AMYH02001353;NG_010277 RPS20_2_68 pseudo HGNC:35911 INFERRED 2305140 RPS20P9 ribosomal protein S20 pseudogene 9 2 2 2 p15 63011562 63012011 + 63167008 63167457 + 62939873 62940322 + 19123937 100271080 ABBA01075396;AC007098;AMYH02003949;NG_011191;NG_016758 RPS20_3_230 pseudo HGNC:36472 INFERRED 2305130 RPS21P1 ribosomal protein S21 pseudogene 1 1 1 1 q42.3 208839539 208839778 + 235596300 235596539 + 235432985 235433224 + 19123937 100271090 ABBA01033136;AL672237;AMYH02002945;FO393422;NG_011248 RPS21_1_179 pseudo HGNC:36401 INFERRED 2305862 RPS21P2 ribosomal protein S21 pseudogene 2 2 2 2 q12.2 101105785 101106141 - 106905200 106905556 - 106288744 106289100 - 19123937 100132961 ABBA01073840;AC114755;AMYH02004491;NG_010504 RPS21_1_254 pseudo HGNC:36191 INFERRED 2305860 RPS21P3 ribosomal protein S21 pseudogene 3 4 4 4 q21.21 76985074 76985437 + 79689603 79689966 + 78768449 78768812 + 19123937 100132993 ABBA01063387;AC098818;AMYH02009543;NG_010672 RPS21_2_494 pseudo HGNC:36847 INFERRED 2305570 RPS21P4 ribosomal protein S21 pseudogene 4 4 4 4 p15.32 16723214 16723578 - 16257860 16258224 - 16256237 16256601 - 19123937 100128912 ABBA01032581;AC006427;AMYH02008808;NG_009712 1694472 G42966 RPS21_2_461 pseudo HGNC:35922 INFERRED 2304929 RPS21P5 ribosomal protein S21 pseudogene 5 9 9 9 q31.3-q32 83989013 83989243 - 113489729 113489959 - 110727449 110727679 - 19123937 100271236 ABBA01042747;AL513328;AMYH02021463;NG_010685;NG_016016 RPS21_3_1008 pseudo HGNC:36359 INFERRED 2305141 RPS20P8 ribosomal protein S20 pseudogene 8 1 1 1 q32.1 176098418 176098702 + 202969183 202969467 + 203000055 203000339 + 19123937 100271079 ABBA01027487;AC096632;AMYH02002508;NG_011187 RPS20_2_149 pseudo HGNC:35770 INFERRED 2304784 RPS21P6 ribosomal protein S21 pseudogene 6 18 18 18 q21.1 41110590 41110818 + 44302938 44303166 + 46722975 46723203 + 19123937 100271365 ABBA01022317;AC090311;AMYH02034662;NG_009985 RPS21_3_1599 pseudo HGNC:36317 INFERRED 2304783 RPS21P7 ribosomal protein S21 pseudogene 7 20 20 20 p13 5063863 5064114 - 4994119 4994370 - 5013473 5013724 - 19123937 100271366 ABBA01053863;AL121890;AMYH02036633;NG_009993 RPS21_4_1681 pseudo HGNC:35577 INFERRED 6481560 RPS21P8 ribosomal protein S21 pseudogene 8 13 13 27551685 27551876 + 26977548 26977739 + 100873798 ABBA01035755;AL160035;AMYH02027742;NG_032349 pseudo HGNC:39705 INFERRED 7243589 RPS23P10 ribosomal protein S23 pseudogene 10 1 1 161506361 161507950 - 161536571 161538160 - 100419471 ABBA01047318;AC243509;AL590385;NG_027006 pseudo HGNC:48342 INFERRED 2304930 RPS20P25 ribosomal protein S20 pseudogene 25 9 9 9 q21.31 54601957 54602311 + 84025194 84025548 + 81410279 81410633 + 19123937 100271235 ABBA01033968;AL161727;AMYH02021076;NG_010678 RPS20_13_989 pseudo HGNC:35866 INFERRED 2305738 RPS23P2 ribosomal protein S23 pseudogene 2 4 4 4 q28.3 135704368 135704865 + 138369207 138369704 + 137448053 137448550 + 19123937;9847074 391701 ABBA01044901;AC097514;AMYH02010172;NG_009493 RPS23_2_521 pseudo HGNC:36568 INFERRED 1345472 RPS23P1 ribosomal protein S23 pseudogene 1 8 8 8 q22.1 95063186 95063690 + 98877253 98877757 + 97865025 97865529 + 19123937 93948 ABBA01037527;AMYH02018476;AP002906;NG_000953 RPS23_3_930 pseudo HGNC:16043 INFERRED 2305129 RPS23P3 ribosomal protein S23 pseudogene 3 4 4 4 q13.2 64758390 64758819 + 67296810 67297239 + 66431092 66431521 + 19123937 100271091 ABBA01022887;AC053544;AMYH02009359;NG_011257 RPS23_1_489 pseudo HGNC:35499 INFERRED 2305128 RPS23P4 ribosomal protein S23 pseudogene 4 4 4 4 q31.22 143518474 143518795 - 146190962 146191283 - 145269810 145270131 - 19123937 100271092 ABBA01070026;AC079228;AMYH02010250;NG_011263 RPS23_1_526 pseudo HGNC:36633 INFERRED 2305127 RPS23P5 ribosomal protein S23 pseudogene 5 5 5 5 p15.2 13275678 13276105 - 13250347 13250774 - 13250235 13250662 - 19123937 100271093 ABBA01020627;AC109461;AMYH02010879;NG_011270 RPS23_2_542 pseudo ENSG00000242608 HGNC:35726 INFERRED 2305612 RPS23P8 ribosomal protein S23 pseudogene 8 X X X q13.1 70536691 70537071 + 70182812 70183192 + 70962962 70963342 + 19123937 653658 ABBA01067641;AL627071;AMYH02039668;NG_009491 1787326;2141088 RP_S23;SHGC-154064 RPS23_5_1783 pseudo HGNC:35982 INFERRED 6482929 RPS23P7 ribosomal protein S23 pseudogene 7 17 17 17 q23.2 54861816 54862618 + 60474727 60475528 + 62397366 62398167 + 100130106 ABBA01035355;AC008026;AMYH02033762;NG_009489 1695862 SHGC-78807 pseudo HGNC:43899 INFERRED 2304782 RPS23P6 ribosomal protein S23 pseudogene 6 16 16 16 p13.13 12349751 12350046 + 12175094 12175389 + 12081237 12081532 + 19123937 100271367 ABBA01006843;AC007601;AMYH02031494;NG_010000 RPS23_4_1473 pseudo HGNC:36511 INFERRED 7243667 RPS23P9 ribosomal protein S23 pseudogene 9 1 1 161587785 161589375 - 161617995 161619585 - 100419472 AC243971;AL451067;NG_027007 pseudo HGNC:48341 INFERRED 1343131 RPS24P1 ribosomal protein S24 pseudogene 1 X Y Y q11.21 1337374 1344754 + 14365450 14372828 + 12244745 12252124 + 12815422 23756 ABBA01065677;AC004772;AC245171;NG_000893 RPS24P pseudo HGNC:10412 INFERRED 2305715 RPS24P11 ribosomal protein S24 pseudogene 11 4 4 4 p16.1 10035048 10036140 - 9554655 9555747 - 9553035 9554127 - 19123937 100128519 ABBA01032501;AC097493;AC116655;AMYH02008739;NG_010003 RPS24_6_457 pseudo HGNC:36050 INFERRED 2305125 RPS24P10 ribosomal protein S24 pseudogene 10 3 3 3 p25 15111611 15111978 - 15173343 15173710 - 15131836 15132203 - 19123937 100271097 ABBA01025145;AC090954;AMYH02006329;NG_011289 RPS24_3_344 pseudo HGNC:36554 INFERRED 2305124 RPS24P12 ribosomal protein S24 pseudogene 12 6 6 6 q21 108299405 108299798 + 107550963 107551356 + 107229759 107230152 + 19123937 100271098 ABBA01026178;AL591516;AMYH02014254;NG_011293;NG_013033 RPS24_3_730 pseudo HGNC:35623 INFERRED 2304607 RPS24P13 ribosomal protein S24 pseudogene 13 10 10 10 p11.22 32285938 32286441 - 32520708 32521211 - 32231780 32232283 - 19123937 100216338 ABBA01033384;AL445071;AMYH02022582;NG_009039 RPS24_7_1030 pseudo HGNC:36805 INFERRED 2305378 RPS24P15 ribosomal protein S24 pseudogene 15 11 11 11 p13 33405141 33405649 + 33258516 33259024 + 33236970 33237478 + 19123937 390107 ABBA01060895;AL136126;AMYH02024565;NG_009036 RPS24_5_1135 pseudo HGNC:35665 INFERRED 2305752 RPS24P14 ribosomal protein S24 pseudogene 14 11 11 11 p15.4 3585991 3586503 + 3580742 3581254 + 3559512 3560024 + 19123937 100128423 ABBA01032058;AC127526;AMYH02024223;NG_009035 1673502 GDB:4585549 RPS24_4_1115 pseudo HGNC:35744 INFERRED 2304604 RPS24P17 ribosomal protein S24 pseudogene 17 16 16 16 q13 41440702 41441227 + 56940410 56940935 + 56906498 56907023 + 19123937 100216341 ABBA01025253;AC012181;AMYH02032097;NG_009042 RPS24_7_1485 pseudo HGNC:36348 VALIDATED 2304781 RPS24P18 ribosomal protein S24 pseudogene 18 18 18 18 q11.2 20493303 20493687 + 23678803 23679187 + 26098839 26099223 + 19123937 100271371 ABBA01022584;AC091021;AMYH02034452;NG_010023 1932498 REN37081 RPS24_8_1590 pseudo HGNC:36745 INFERRED 2304404 RPS24P19 ribosomal protein S24 pseudogene 19 X X X q26.2 133191745 133192273 + 132804960 132805488 + 133670932 133671460 + 19123937 100130183 ABBA01042357;AL009174;AMYH02040520;NG_009037;NG_009286 RPS24_9_1812 pseudo HGNC:35683 INFERRED 1352060 RPS24P3 ribosomal protein S24 pseudogene 3 14 14 14 q31.1 61839086 61839642 - 81799181 81799737 - 81332837 81333393 - 19123937 326322 ABBA01030609;AL121769;AMYH02029627;NG_002572 RPS24_9_1397 pseudo HGNC:19797 INFERRED 1352517 RPS24P2 ribosomal protein S24 pseudogene 2 14 14 14 q24.3 56100168 56100682 - 76062072 76062586 - 75595729 75596243 - 19123937 326321 ABBA01030697;AC007182;AMYH02029541;NG_002571;NG_027694 RPS24_8_1390 pseudo HGNC:19791 INFERRED 2304489 RPS24P4 ribosomal protein S24 pseudogene 4 1 1 1 q42.2 204013673 204014178 - 230747689 230748194 - 230611943 230612448 - 19123937 729257 ABBA01033026;AL158214;AMYH02002881;NG_009044 1334879;1335126;1335182;1339767;1768760;1785174 AFM267xa5;D1S1668;D1S1670;D1S2805;D1S2833;SHGC-171533 RPS24_2_174 pseudo HGNC:35852 INFERRED 2305126 RPS24P5 ribosomal protein S24 pseudogene 5 1 1 1 p36.13-q41 153077120 153077488 - 179969575 179969943 - 180000440 180000808 - 19123937 100271094 ABBA01027804;AL590632;AMYH02002238;NG_011274 RPS24_1_136 pseudo HGNC:36026 INFERRED 2304603 RPS24P7 ribosomal protein S24 pseudogene 7 2 2 2 p15 61875378 61875885 + 62030161 62030668 + 61803026 61803533 + 19123937 100216342 ABBA01075371;AC108039;AMYH02003934;NG_009043 RPS24_1_225 pseudo HGNC:35737 INFERRED 2304606 RPS24P6 ribosomal protein S24 pseudogene 6 2 2 2 q11.1 89928670 89929159 + 95578156 95578645 + 94912411 94912900 + 19123937 100216339 ABBA01003580;AC097374;AMYH02004297;NG_009040 RPS24_2_250 pseudo HGNC:36240 INFERRED 2304605 RPS24P16 ribosomal protein S24 pseudogene 16 15 15 15 q23 44412244 44412751 + 67524745 67525252 + 67232407 67232914 + 19123937 100216340 ABBA01038804;AC012568;AMYH02030664;NG_009041;NG_033007 RPS24_6_1447 pseudo HGNC:35542 INFERRED 2304608 RPS24P8 ribosomal protein S24 pseudogene 8 3 3 3 p21.31 45139581 45140097 - 45201190 45201706 - 45159698 45160214 - 19123937 100216336 ABBA01024733;AC105902;AMYH02006657;NG_009034 5122802 D10S2201 RPS24_4_368 pseudo HGNC:37016 INFERRED 2304475 RPS24P9 ribosomal protein S24 pseudogene 9 INTERACTS WITH dioxygen 3 3 3 q21.2 123926159 123926761 - 125506491 125507093 - 125787648 125788250 - 6480464 19123937 100132496 ABBA01016406;AC092902;AC226348;AMYH02007580;NG_010758 RPS24_5_400 pseudo HGNC:35711 INFERRED 734142 RPS24 ribosomal protein S24 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008] 10 10 10 q22 73080118 73103169 + 79793518 79816571 + 78033760 78056813 + 6480464;7240710;8554872;8699517 10409428;11076863;11230166;12477932;12588972;12766061;15189156;15489334;15489336;1588318;15883184;16196087;16341674;16344560;16381901;17186470;18029348;18230666;18412286;18697920;19689926;19738201;19773262;19805454;19946888;20020773;20195357;20301769;20378560;20434207;21139048;21145461;21182205;21319273;21853274;21890473;21906983;21963094;21988832;2210388;22505724;22586326;22623428;22863883;22939629;22944692;23000965;23084401;23184937;23246001;23398456;23443559;23812780;24457600;24583282;24816145;8647458;8706699;8722009;9027498;9582194 6229 E7ETK0;P62847 AB007159;ABBA01020223;AF147330;AK311776;AK311910;AL512628;AMYH02023390;AX887990;BC000523;BC003149;BC071926;BE300488;BG610671;BG944046;BM745909;BX537975;BX647260;CD176901;CD677556;CH471083;DB116225;M31520;NG_012633;NM_001026;NM_001142282;NM_001142283;NM_001142284;NM_001142285;NM_033022;U12202;XM_006717938;XR_428711 AAA36588;AAB08006;AAB08007;AAH00523;AAH71926;BAG34719;BAG34851;CAD97939;CAE93915;CAL38254;CAL38666;EAW54618;EAW54619;EAW54620;EAW54621;EAW54622;EAW54623;EAW54624;EAW54625;EAW54626;EAW54627;NP_001017;NP_001135754;NP_001135755;NP_001135756;NP_001135757;NP_148982;P62847;XP_006718001 Hs.280130 2160162;5037552;5109763;5122802 D10S2201;D14S647E;D8S2279;RP_S24_2 DBA3;DKFZp686N1586;S24 40S ribosomal protein S24;OTTHUMP00000019919;OTTHUMP00000035998 APPROVED protein-coding ENSG00000138326 HGNC:10411 03877 602412;610629 REVIEWED 2291805 RPS25P1 ribosomal protein S25 pseudogene 1 11 11 11 p14.1 27749147 27749628 + 27603166 27603647 + 27581619 27582100 + 19123937 283114 ABBA01060969;AC104563;AMYH02024505;NG_003216 RPS25_2_1129 pseudo HGNC:34027 INFERRED 1353637 RPS25 ribosomal protein S25 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S25E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 116043558 116046193 - 118886422 118889057 - 119015712 119018347 - 724692;6480464 1748303 10050887;11101529;11875025;12477932;12588972;15189156;15231747;1544436;15489334;15883184;16169070;16196087;17361185;18029348;18457437;19380743;19738201;20020773;21139048;21145461;21151833;21832049;21853274;21890473;21906983;21963094;22145905;22174317;22178446;22505724;22623428;22777350;22863883;22939629;23000965;23184937;23246001;23398456;23443559;23463506;23862649;24244333;24657165;25015289;3378620;7821789;8020948;8406452;8706699;8722009;9582194 6230 E9PK60;E9PQK3;P62851 AB061844;ABBA01039681;AK311883;AMYH02025659;AP003392;BC004294;BC004986;CH471065;D15048;D28369;M64716;NM_001028 AAA16105;AAH04294;AAH04986;ABM83968;ABM87284;BAA05735;BAB79482;BAG34824;EAW67425;EAW67426;NP_001019;P62851 Hs.512676 1655794;1697318;1731239;2171661;5107738;7184772 D11S4395;D11S456;RH102156;RH70303;SHGC-33190 S25 40S ribosomal protein S25;OTTHUMP00000232696;OTTHUMP00000232699;OTTHUMP00000232700 APPROVED protein-coding HGNC:10413 01593 180465 REVIEWED 2304780 RPS25P10 ribosomal protein S25 pseudogene 10 22 22 22 q13.1 27398542 27398996 + 43488140 43488594 + 43092134 43092588 + 19123937 100271372 ABBA01017909;AL022237;AMYH02038471;NG_010031 RPS25_3_1755 pseudo HGNC:36078 INFERRED 2305090 RPS25P2 ribosomal protein S25 pseudogene 2 1 1 1 q32.2 184573333 184573813 + 211346760 211347240 + 211173418 211173898 + 19123937 100271100 ABBA01048194;AC092017;AMYH02002618;NG_011304 RPS25_1_159 pseudo HGNC:36701 INFERRED 2305089 RPS25P3 ribosomal protein S25 pseudogene 3 2 2 2 p24.1 20668432 20668806 - 20806040 20806414 - 20606280 20606654 - 19123937 100271101 ABBA01018473;AC012065;AMYH02003372;NG_011312 RPS25_1_198 pseudo HGNC:36073 INFERRED 2305817 RPS25P4 ribosomal protein S25 pseudogene 4 3 3 3 p21.1 53475860 53476351 - 53508684 53509175 - 53474657 53475148 - 19123937 391539 ABBA01024473;AC005905;AC092035;AMYH02006829;NG_010598 1745405 GDB:606284 RPS25_2_371 pseudo HGNC:35669 INFERRED 2305088 RPS25P5 ribosomal protein S25 pseudogene 5 3 3 3 q21-q25 147485410 147485892 - 149074909 149075391 - 149357122 149357604 - 19123937 100271102 ABBA01058945;AC073522;AMYH02007884;NG_011318 RPS25_3_418 pseudo HGNC:35788 INFERRED 2305764 RPS25P6 ribosomal protein S25 pseudogene 6 This gene appears to be an intronless pseudogene derived from the RPS25 gene. It contains an open reading frame that could produce a protein of the same or nearly the same size as that of the RPS25 gene, but there is no evidence for transcription of this locus so it is considered a pseudogene. [provided by RefSeq, Jul 2008] 5 5 5 q23.1 111335945 111336431 - 115387553 115388039 - 116051856 116052342 - 6480464 11181995;19123937 401206 ABBA01069028;AC034236;AMYH02012011;CH471086;NG_006648 EAW48944;EAW48945 1644910;1780908 L28191;bac53227S RPS25_4_602 APPROVED pseudo HGNC:35532 INFERRED 2305087 RPS25P7 ribosomal protein S25 pseudogene 7 6 6 6 p25 5143112 5143558 - 3914109 3914555 - 3913875 3914321 - 19123937 100271103 ABBA01021996;AL590004;AMYH02013005;NG_011323 RPS25_5_649 pseudo HGNC:36585 INFERRED 2305639 RPS25P8 ribosomal protein S25 pseudogene 8 9 9 9 q33.2 96439923 96440408 - 125791611 125792096 - 123029332 123029817 - 6480464 19123937 100131196 ABBA01043718;AC007066;AMYH02021599;NG_010642 RPS25_6_1012 pseudo HGNC:36075 INFERRED 2304779 RPS25P9 ribosomal protein S25 pseudogene 9 10 10 10 q22 65237859 65238125 - 71958729 71958995 - 70198973 70199239 - 19123937 100271373 ABBA01019620;AL731540;AMYH02023283;NG_010036 RPS25_7_1060 pseudo HGNC:36936 INFERRED 1345377 RPS26P1 ribosomal protein S26 pseudogene 1 21 21 21 q22.12 22874587 22874704 - 37676184 37676301 - 36303886 36304003 - 10830953 54024 ABBA01057391;AP000692;AP001725;NG_000905 RPS26P pseudo HGNC:10415 INFERRED 1344988 RPS26 ribosomal protein S26 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 12 12 12 q13 56088373 56090694 + 56435686 56438007 + 56041902 56044223 + 6480464;7240710;8554872;8699517 11752456;12068637;12477932;12588972;15189156;15489334;15716004;15883184;16189514;17081983;17220478;17353931;18274552;18781797;19060904;19167051;19738201;19850743;19946888;20116044;20301769;20953189;21139048;21182205;21414820;21832049;21853274;21890473;21906983;21963094;22045982;22178446;22505724;22586326;22689679;22863883;22939629;22951725;23000965;23246001;23398456;23443559;23728348;23812780;24457600;24816145;7945460;8464749;8670309;8706699;8722009;9582194;9602156 6231 P62854;Q76N57 AB007160;AB007161;ABBA01008400;AC034102;AMYH02026557;AV681946;BC002604;BC013215;BC015832;BC070220;BC105276;BC105798;CH471054;NG_023201;NM_001029;U41448;X69654;X77770;X79236 AAC26987;AAH02604;AAH15832;AAH70220;AAI05277;AAI05799;ABM82821;ABM83717;ABM86007;ABM87037;ABM87088;BAA25823;BAA25824;CAA49345;CAA54808;CAA55818;EAW96876;EAW96877;EAW96878;NP_001020;P62854 Hs.447562;Hs.567235;Hs.711461 1661356;1683549;1705828;5109787 D17S1486E;G29314;RH65270;SHGC-81169 DBA10;MGC104292;S26 40S ribosomal protein S26;OTTHUMP00000243037;OTTHUMP00000243038 APPROVED protein-coding ENSG00000197728 HGNC:10414 04743 603701;613309 REVIEWED 1601905 RPS26P10 ribosomal protein S26 pseudogene 10 8 8 8 q21.3 89342591 89343043 - 93156235 93156687 - 92144007 92144459 - 19123937 401470 ABBA01037424;AC104339;AMYH02018408;NG_005790 RPS26_16_925 pseudo HGNC:32201 INFERRED 1602142 RPS26P11 ribosomal protein S26 pseudogene 11 ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN ribosome (inferred); INTERACTS WITH indole-3-methanol (ortholog) 4 X X q13.1 111426778 111427227 - 71264259 71264824 + 72044409 72044974 + 6480464 15772651;19123937;21145461;22145905;23443559;23463506 441502 Q5JNZ5 AL929401;AMYH02039699;AW972305;NG_021430;NG_029583;NR_002309 Hs.449523 1661356;1683549;5109787 D17S1486E;G29314;RH65270 RPS26L1;RPS26_22_1784;bA366E13.1 pseudo HGNC:31817 VALIDATED 2305086 RPS26P12 ribosomal protein S26 pseudogene 12 1 1 1 q24 148000905 148001238 - 174891238 174891571 - 174922101 174922434 - 19123937 100271104 ABBA01027874;AMYH02002174;NG_009954;Z99127 RPS26_2_128 pseudo HGNC:35487 INFERRED 1348628 RPS21 ribosomal protein S21 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S21E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms have been described, but their existence has not been verified. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 20 20 20 q13.3 57697395 57698850 + 60962121 60963576 + 62387065 62388520 + 6480464 10079194;10900511;11780052;11875025;12477932;12588972;15189156;15883184;16169070;16189514;16341674;17361185;18029348;19738201;21139048;21145461;21319273;21832049;21890473;21906983;21963094;21987572;22505724;22623428;22863883;22939629;23000965;23113252;23246001;23535732;24250222;24816145;6188845;7786314;7805865;8332502;8706699;8722009;8889548;9582194 6227 P63220;Q6FGH5;Q8WVC2;Q9BYK1;Q9BYK2 AB007157;AB061843;ABBA01040087;ABBA01040088;AJ250907;AL121832;AMYH02037427;AV758927;BC018140;BC021990;BC027976;BC071927;BM840443;CF124568;CH471077;CR542132;HB462033;HB867505;HB868392;HB871649;HB879510;HB889355;HC924914;HC925801;HC929058;HC936919;HC946764;L04483;NM_001024;X79563 AAA99893;AAH18140;AAH21990;ABM84506;ABM84508;ABM85685;ABM85943;ABM85955;BAA25821;BAB79481;CAA56100;CAB83213;CAG46929;CBA11147;CBF57690;CBF58172;CBF59928;CBF64055;CBF68808;CBU83191;CBU83607;CBU85172;CBU88931;CBU93682;EAW75367;EAW75368;EAW75369;EAW75370;EAW75371;NP_001015;P63220 Hs.190968 1650878;1669353;1693492;1694472;2162753;5024589 G42966;RH11604;RH12076;RH64856;RP_S21;SHGC-58297 HLDF;S21 40S ribosomal protein S21;8.2 kDa differentiation factor;OTTHUMP00000031485;human leukemia differentiation factor APPROVED protein-coding ENSG00000171858 HGNC:10409 01605 180477 REVIEWED 2305084 RPS26P13 ribosomal protein S26 pseudogene 13 1 1 1 q32.2 182101552 182101898 - 208870697 208871043 - 208697352 208697698 - 19123937 100271106 ABBA01048228;AC119750;AMYH02002583;NG_009965 RPS26_4_158 pseudo HGNC:35784 INFERRED 2305326 RPS26P14 ribosomal protein S26 pseudogene 14 1 1 1 p32.3 50733493 50733840 + 52446145 52446492 + 51980473 51980820 + 19123937 100270902 ABBA01074783;AL445685;AMYH02001006;NG_010283 RPS26_1_49 pseudo HGNC:36992 INFERRED 1343302 RPS23 ribosomal protein S23 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 5 5 5 q14.2 77474126 77479222 - 81569139 81574235 - 82273320 82278416 - 6480464;8554872 12477932;12588972;14702039;15189156;15489334;15635413;15883184;17342744;18274552;18457437;18781797;19471022;19738201;19946888;20020773;21139048;21145461;21151833;21182205;21319273;21666788;21853274;21890473;21906983;21907836;21963094;21987572;22174317;22505724;22586326;22863883;22939629;22944692;23000965;23398456;23443559;23455922;23463506;24250222;24457600;24550462;24583282;24654937;24657165;24816145;7821789;7829101;8415000;8706699;8722009;8889548;9582194 6228 A8K517;D6R9I7;D6RD47;D6RDJ2;D6RIX0;P62266 AB007158;ABBA01062071;AC010598;AI955885;AK092335;AK291132;AK311772;AMYH02011695;BC046998;BC070221;BG567497;BI497419;BM476492;BU533156;BU594771;CF129812;CH471084;CR456996;D14530;D28396;NM_001025 AAH70221;BAA03400;BAA05762;BAA25822;BAF83821;BAG34715;CAG33277;EAW95887;EAW95888;NP_001016;P62266 Hs.527193 1651265;1662288;1668403;1694796;1770043;2141088;5107578 D14530;G43620;RH66050;RH71320;RP_S23;STS-N27409;STS-W81069 FLJ35016;S23 40S ribosomal protein S23;OTTHUMP00000222330;OTTHUMP00000222332;OTTHUMP00000222333;OTTHUMP00000222334;OTTHUMP00000222652;OTTHUMP00000222653;homolog of yeast ribosomal protein S28 APPROVED protein-coding ENSG00000186468 HGNC:10410 04729 603683 REVIEWED 2304862 RPS26P15 ribosomal protein S26 pseudogene 15 1 1 1 p32.2 56806758 56807216 - 58521716 58522174 - 58056044 58056502 - 11181995;19123937 644928 ABBA01074667;AL445193;AMYH02001091;CH471059;NG_010340 EAX06635 RPS26_1_56 pseudo HGNC:35680 INFERRED 2305717 RPS26P16 ribosomal protein S26 pseudogene 16 1 1 1 q25.2 152113230 152113673 - 179004366 179004809 - 179035231 179035674 - 19123937 730177 ABBA01027825;AL139132;AMYH02002227;NG_009599 RPS26_3_133 pseudo HGNC:35557 INFERRED 2304366 RPS26P17 ribosomal protein S26 pseudogene 17 1 1 1 q41 191728349 191728634 + 218511888 218512173 + 218338546 218338831 + 19123937 391165 ABBA01048105;AC096638;AMYH02002716;NG_011316 RPS26_2_165 pseudo HGNC:36681 INFERRED 2305082 RPS26P18 ribosomal protein S26 pseudogene 18 2 2 2 p24 15455226 15455573 - 15537559 15537906 - 15397435 15397782 - 19123937 100271108 ABBA01015679;AC007738;AMYH02003312;NG_009977;NG_032964 RPS26_5_195 pseudo HGNC:35782 INFERRED 2305080 RPS26P19 ribosomal protein S26 pseudogene 19 2 2 2 q21 121915235 121915584 - 128604305 128604654 - 127846731 127847080 - 19123937 100271110 ABBA01040190;AC006011;AMYH02004741;NG_009992 1682575;1693830;2139232;2144008;2217790 Cda1le02;G27355;POLR2D_3413;RH78016;SHGC-58198 RPS26_6_273 pseudo HGNC:36377 INFERRED 2303671 RPS26P2 ribosomal protein S26 pseudogene 2 9 9 9 p21.1 30760627 30761067 - 30831807 30832247 - 30831809 30832249 - 6480464 19123937 646753 ABBA01065097;AL353735;AMYH02019391;NG_009772 RPS26_19_971;bA98O11.1 pseudo HGNC:23662 INFERRED 2305587 RPS26P20 ribosomal protein S26 pseudogene 20 2 2 2 q31.1 165847927 165848586 - 172231354 172232013 - 171374844 171375503 - 6480464 19123937 644166 ABBA01020723;AC008065;AMYH02005222;NG_010373 1649045 SHGC-59287 RPS26_7_290 pseudo HGNC:36485 INFERRED 2305085 RPS26P21 ribosomal protein S26 pseudogene 21 3 3 3 q13.33 117425984 117426331 + 119017512 119017859 + 119298665 119299012 + 19123937 100271105 ABBA01061586;AC092981;AMYH02007498;NG_009959 RPS26_3_394 pseudo HGNC:36469 INFERRED 2305078 RPS26P22 ribosomal protein S26 pseudogene 22 3 3 3 q13 122859438 122859774 - 124452265 124452601 - 124733418 124733754 - 19123937 100271112 ABBA01016433;AC022336;AMYH02007563;NG_010008;NG_017037 RPS26_8_399 pseudo HGNC:36261 INFERRED 2305083 RPS26P23 ribosomal protein S26 pseudogene 23 4 4 4 q26 121144348 121144689 + 123761504 123761845 + 122840349 122840690 + 19123937 100271107 ABBA01044743;AC021205;AMYH02010021;NG_009972;NG_029067 RPS26_4_515 pseudo HGNC:36332 INFERRED 2305077 RPS26P24 ribosomal protein S26 pseudogene 24 4 4 4 q12 55723239 55723569 - 58219165 58219495 - 57352999 57353329 - 19123937 100271113 ABBA01003453;AC073196;AMYH02009277;NG_010013 RPS26_9_482 pseudo HGNC:36917 INFERRED 2304857 RPS26P25 ribosomal protein S26 pseudogene 25 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPS26 gene, there is no evidence of transcription. The locus is thus being annotated as a pseudogene.[provided by RefSeq, Feb 2009] 4 4 4 q26 111426745 111427237 - 114135094 114135583 - 113213938 113214427 - 6480464 19123937;7945460 728937 ABBA01063831;AC004057;AMYH02009945;AMYH02009946;CH471057;NG_009006;NG_010542 EAX06294 RPS26_10_512 APPROVED pseudo HGNC:35730 INFERRED 2305081 RPS26P26 ribosomal protein S26 pseudogene 26 5 5 5 q13.3 70563464 70563810 + 74670288 74670634 + 75374463 75374809 + 19123937 100271109 ABBA01061944;AC008897;AMYH02011585;NG_009984;NG_029492 RPS26_5_578 pseudo HGNC:36029 INFERRED 2304928 RPS26P27 ribosomal protein S26 pseudogene 27 5 5 5 q11-q12 76055608 76055942 - 80151324 80151658 - 80855505 80855839 - 19123937 100271237 ABBA01062045;AC022493;AMYH02011674;NG_010690;NG_016607 RPS26_12_587 pseudo HGNC:35636 INFERRED 2304393 RPS26P28 ribosomal protein S26 pseudogene 28 5 5 5 p15.1 16927461 16927900 - 16902322 16902761 - 16902213 16902652 - 11181995;19123937 643003 ABBA01020672;AC010310;AMYH02010927;CH471102;NG_006027 EAX08019 RPS26_11_544 pseudo HGNC:36149 INFERRED 2305732 RPS26P29 ribosomal protein S26 pseudogene 29 6 6 6 p24.3 8736188 8736534 + 7506436 7506782 + 7506203 7506549 + 19123937 442158 ABBA01022044;AL138878;AMYH02013061;NG_009788 RPS26_6_653 pseudo HGNC:36456 INFERRED 1605161 RPS26P3 ribosomal protein S26 pseudogene 3 9 9 9 p23 9025291 9025730 + 9090873 9091312 + 9090873 9091312 + 10557312;19123937 441386 ABBA01065356;AL353638;AMYH02019138;NG_004800;NG_033963 RPS26_11_962;bA338L20.1 pseudo HGNC:23411 INFERRED 2305079 RPS26P30 ribosomal protein S26 pseudogene 30 7 7 7 p15.3 20868739 20869076 + 20883249 20883586 + 20843630 20843967 + 19123937 100271111 ABBA01056679;AC005251;AMYH02015341;CH236948;NG_009999 RPS26_7_791 pseudo HGNC:35574 INFERRED 2305704 RPS26P32 ribosomal protein S26 pseudogene 32 7 7 7 p15.3 22798821 22799270 - 22813189 22813638 - 22773570 22774019 - 12853948;19123937 389472 ABBA01056696;AC073072;AMYH02015350;CH236948;NG_004809 EAL24264 1335065;7186576 D7S629 RPS26;RPS26_13_792 pseudo HGNC:35753 INFERRED 2305804 RPS26P31 ribosomal protein S26 pseudogene 31 7 7 7 q31.32 117125659 117126092 + 122321347 122321780 + 122681293 122681726 + 6480464 19123937 645979 ABBA01057744;AC006463;AMYH02016676;CH236947;NG_009433;NG_016215 1710048;1850332 D7S1906;SHGC-82300 RPS26_8_840 pseudo HGNC:36614 INFERRED 2304926 RPS26P33 ribosomal protein S26 pseudogene 33 7 7 7 q21.3-q22.1 92802127 92802372 - 98107863 98108108 - 98478551 98478796 - 19123937 100271239 ABBA01045720;AC074121;AMYH02016331;CH236956;NG_010704 RPS26_14_825 pseudo HGNC:36227 INFERRED 2305076 RPS26P34 ribosomal protein S26 pseudogene 34 8 8 8 q21.13 78544475 78544823 + 82539504 82539852 + 81627269 81627617 + 19123937 100271114 ABBA01004052;AC090255;AMYH02018315;NG_010018 RPS26_9_922 pseudo HGNC:36894 INFERRED 2304416 RPS26P35 ribosomal protein S26 pseudogene 35 8 8 8 q24.12 115962291 115962745 - 119774006 119774459 - 118761767 118762220 - 6480464 19123937 441377 ABBA01037809;AMYH02018672;AP004217;NG_010179 RPS26_17_946 pseudo HGNC:36229 INFERRED 2304925 RPS26P36 ribosomal protein S26 pseudogene 36 8 8 8 q24.3 140457583 140457831 - 144147332 144147580 - 143065915 143066163 - 19123937 100271240 ABBA01005274;AC083982;AC236721;AMYH02018932;NG_010708 1768609;5022433;5108539 D8S304;D8S315;G17261 RPS26_18_953 pseudo HGNC:36561 INFERRED 2304927 RPS26P37 ribosomal protein S26 pseudogene 37 9 9 9 q22.3 68326840 68327187 + 97885803 97886150 + 95123521 95123868 + 19123937 100271238 ABBA01043624;AL354893;AMYH02021264;NG_010696 2151769 STS-H94332 RPS26_12_999 pseudo HGNC:36875 INFERRED 2305103 RPS26P38 ribosomal protein S26 pseudogene 38 10 10 10 q23.2 83148891 83149311 + 89402363 89402783 + 87642606 87643026 + 6480464 19123937 100129552 ABBA01021964;AL138767;AMYH02023500;NG_010063 RPS26_15_1076 pseudo HGNC:36406 INFERRED 2305868 RPS26P39 ribosomal protein S26 pseudogene 39 10 10 10 q26.13 118637491 118638697 - 124930960 124932166 - 123171444 123172650 - 6480464 19123937;24045676 100128168 ABBA01062836;AC012391;AMYH02023961;NG_010876 RPS26_21_1107 pseudo HGNC:36958 INFERRED 1605445 RPS26P4 ribosomal protein S26 pseudogene 4 21 21 21 q22.2 26061099 26061541 - 40863402 40863844 - 39491476 39491918 - 19123937 692146 ABBA01009337;AF121781;AMYH02037834;NG_005578 RPS26_32_1733 pseudo HGNC:23775 INFERRED 2305855 RPS26P40 ribosomal protein S26 pseudogene 40 10 10 10 q22.1 65835875 65836231 - 72553923 72554279 - 70794167 70794523 - 19123937 338611 ABBA01019635;AL358817;AMYH02023296;NG_010929 RPS26_20_1061 pseudo HGNC:36906 INFERRED 2304542 RPS26P41 ribosomal protein S26 pseudogene 41 10 10 10 q22.2 68583548 68583808 + 75297951 75298211 + 73538193 73538453 + 19123937 100271567 ABBA01020319;AL359074;AMYH02023336;NG_011073 RPS26_13_1064 pseudo HGNC:36062 INFERRED 2304538 RPS26P43 ribosomal protein S26 pseudogene 43 11 11 11 q24.1 120079770 120080002 - 122920442 122920674 - 123049734 123049966 - 19123937 100271571 ABBA01031277;AMYH02025709;AP000926;NG_011092 RPS26_22_1185 pseudo HGNC:36675 INFERRED 2304540 RPS26P44 ribosomal protein S26 pseudogene 44 12 12 12 p13.3 5191907 5192253 + 3578116 3578462 + 3468950 3469296 + 19123937 100271569 ABBA01048778;AC005908;AMYH02025903;NG_011083 RPS26_16_1195 pseudo HGNC:36927 INFERRED 2304539 RPS26P45 ribosomal protein S26 pseudogene 45 12 12 12 q15 69480126 69480444 + 69816457 69816775 + 69422677 69422995 + 19123937 100271570 ABBA01026542;AC117502;AMYH02026710;NG_011087 1762781 SHGC-146563 RPS26_17_1256 pseudo HGNC:36944 INFERRED 2304537 RPS26P46 ribosomal protein S26 pseudogene 46 12 12 12 p13.1 18323077 18323415 - 13174199 13174537 - 13021265 13021603 - 19123937 100271572 ABBA01067857;AC023790;AMYH02026067;NG_011095 5094722 AAC040Z RPS26_23_1212 pseudo HGNC:35807 INFERRED 2304868 RPS26P47 ribosomal protein S26 pseudogene 47 INTERACTS WITH doxorubicin; paclitaxel; vincaleukoblastine 13 13 13 q32.3 82036633 82037090 - 101192070 101192526 - 100539816 100540272 - 6480464 12853948;19123937 400156 ABBA01027088;AL136526;AMYH02028610;NG_011410 RPS26;RPS26L;RPS26_24_1332 pseudo HGNC:36368 INFERRED 2304536 RPS26P48 ribosomal protein S26 pseudogene 48 14 14 14 q31 58735781 58736123 - 78697620 78697962 - 78231277 78231619 - 19123937 100271574 ABBA01030638;AF099810;AMYH02029588;NG_011106 RPS26_26_1396 pseudo HGNC:35519 INFERRED 2304535 RPS26P49 ribosomal protein S26 pseudogene 49 14 14 14 q32.33 85353499 85353833 - 105297173 105297507 - 104830836 104831170 - 19123937 100271575 ABBA01008845;AL590326;AMYH02029953;NG_011113 RPS26_27_1414 pseudo HGNC:35514 INFERRED 1343730 RPS26P5 ribosomal protein S26 pseudogene 5 21 21 21 q21.1 2663835 2664257 - 17493563 17493985 - 16121243 16121665 - 19123937 387495 ABBA01057095;AMYH02037536;AP001346;NG_009769 RPS26_31_1718 pseudo HGNC:23776 INFERRED 2304534 RPS26P51 ribosomal protein S26 pseudogene 51 16 16 16 p13.3 7387628 7387974 - 7176294 7176640 - 7126293 7126639 - 19123937 100271576 ABBA01026842;AC022206;AMYH02031369;NG_011117 RPS26_28_1470 pseudo HGNC:36254 INFERRED 2304861 RPS26P50 ribosomal protein S26 pseudogene 50 15 15 15 q22.31 41763035 41763493 + 64885156 64885614 + 64592957 64593415 + 6480464 19123937;23443559 644934 ABBA01038880;AC090543;AMYH02030611;NG_010374 RPS26_18_1443 pseudo HGNC:35615 INFERRED 2304533 RPS26P52 ribosomal protein S26 pseudogene 52 16 16 16 p13.3 14191379 14191726 - 14016189 14016536 - 13922332 13922679 - 19123937 100271577 ABBA01006877;AC010401;AMYH02031530;NG_011121 RPS26_29_1475 pseudo HGNC:36863 INFERRED 2304977 RPS26P53 ribosomal protein S26 pseudogene 53 17 17 17 p13.1 8495393 8495854 + 8464525 8464985 + 8561207 8561667 + 6480464 19123937 728823 ABBA01054917;AC025518;AMYH02032924;NG_011282 RPS26_19_1511 pseudo HGNC:35582 INFERRED 2305092 RPS26P54 ribosomal protein S26 pseudogene 54 18 18 18 q21.32 54146826 54147279 + 57428764 57429217 + 59761532 59761985 + 6480464 19123937;21145461 100131971 ABBA01056171;AC098847;AMYH02034839;NG_010682 RPS26_21_1607 pseudo HGNC:36868 INFERRED 2304972 RPS26P55 ribosomal protein S26 pseudogene 55 19 19 19 q13.11 31736658 31737390 - 35024259 35024991 - 34533354 34534086 - 19123937 100129650 ABBA01018723;AC008747;AMYH02035964;NG_010591 RPS26_30_1651 pseudo ENSG00000239210 HGNC:36500 INFERRED 2304729 RPS26P56 ribosomal protein S26 pseudogene 56 X X X q25 128931011 128931309 + 128542300 128542598 + 129408323 129408621 + 19123937 100271400 AL022577;AMYH02040461;NG_010217 RPS26_23_1811 pseudo HGNC:35858 INFERRED 2304728 RPS26P57 ribosomal protein S26 pseudogene 57 X X X q25 124206921 124207255 - 123822354 123822688 - 124688504 124688838 - 19123937 100271401 ABBA01036493;AMYH02040430;NG_010223;NG_013249;Z85995 RPS26_34_1808 pseudo HGNC:36537 INFERRED 2304622 RPS26P58 ribosomal protein S26 pseudogene 58 X X X p22.11 28570497 28570956 - 24447607 24448066 - 24429490 24429949 - 19123937 729188 ABBA01072321;AC004552;AMYH02039046;CH471074;NG_005780 EAW99018 RPS26_33_1769 pseudo HGNC:36571 INFERRED 1604430 RPS26P6 ribosomal protein S26 pseudogene 6 8 8 8 q22.3 98092985 98093451 + 101907964 101908430 + 100895736 100896202 + 6480464 19123937 392256 ABBA01037589;AC027373;AMYH02018509;NG_003189 RPS26_10_933 pseudo HGNC:31090 INFERRED 2303689 RPS26P7 ribosomal protein S26 pseudogene 7 8 8 8 q12.1 55493914 55494371 - 59500890 59501347 - 58588331 58588788 - 19123937 619443 ABBA01041789;AC068522;AMYH02018033;NG_009773 HsT24280;RPS26_15_908 pseudo HGNC:20077 INFERRED 2303880 RPS26P8 ribosomal protein S26 pseudogene 8 4 17 17 q21.31 111426771 111427231 - 43685906 43686369 + 45608540 45609003 + 6480464 19123937 644191 ABBA01031185;AC126544;AC225613;AC243807;NG_009394 RPS26_20_1551 pseudo HGNC:31329 INFERRED 2304541 RPS26P42 ribosomal protein S26 pseudogene 42 10 10 10 q22 70173629 70173884 + 76885374 76885629 + 75125616 75125871 + 19123937 100271568 ABBA01020264;AL392111;AMYH02023362;NG_011080 RPS26_14_1066 pseudo HGNC:36243 INFERRED 1353220 RPS26P9 ribosomal protein S26 pseudogene 9 14 14 14 q11.1 945673 946020 - 21084803 21085150 - 20616644 20616991 - 19123937 446209 ABBA01061233;AL163195;AMYH02028825;NG_009962 RPS26_25_1338 pseudo HGNC:31821 INFERRED 732460 RPS27 ribosomal protein S27 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S27E family of ribosomal proteins. It contains a C4-type zinc finger domain that can bind to zinc. The encoded protein has been shown to be able to bind to nucleic acid. It is located in the cytoplasm as a ribosomal component, but it has also been detected in the nucleus. Studies in rat indicate that ribosomal protein S27 is located near ribosomal protein S18 in the 40S subunit and is covalently linked to translation initiation factor eIF3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 1 1 1 q21 127034985 127036377 + 153963239 153964631 + 153990763 153992155 + 1580863;6480464 11875025;12175529;12477932;15146197;15189156;15489334;15635413;15883184;16169070;16196087;16914586;17081983;18781797;19460752;19642098;19738201;20936779;21139048;21145461;21170087;21319273;21518817;21796632;21890473;21900206;21906983;21942715;21963094;21987572;21988832;22118674;22505724;22798506;22810585;22863883;23000965;23246001;23398456;23443559;23455922;23862649;24337577;24654937;24657165;24816145;7821789;7986747;8407955;8706699;8722009;8908372;9582194 6232 P42677;Q5T4L4 AB007162;AB061845;ABBA01049461;AK312070;AL358472;AMYH02001913;AV763942;BC002658;BC070219;CD177656;CH471121;CN304370;D28454;L19739;NM_001030;U57847 AAA59867;AAB02266;AAH02658;AAH70219;BAA05820;BAA25825;BAB79483;BAG35006;EAW53239;EAW53240;NP_001021;P42677 Hs.546291;Hs.654475 2131998;5014715;5127137 D17S2002;D1S3384;RP_S27_2 MPS-1;MPS1;S27 40S ribosomal protein S27;OTTHUMP00000034760;metallopan-stimulin 1;metallopanstimulin 1;ribosomal protein S27 (metallopanstimulin 1) APPROVED protein-coding ENSG00000177954 HGNC:10416 04744 603702 REVIEWED 736388 RPS27A ribosomal protein S27a Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008] 2 2 2 p16 55299565 55303515 + 55459039 55462989 + 55231903 55235853 + 6480464 10772958;10882101;10995389;11031247;11231585;11285280;11733996;11875025;11931757;12477932;12588972;12609980;12787561;12791267;12960054;1370760;14702039;14755250;14764729;15029244;15039775;15143060;15146197;15189156;15231748;15276183;15489334;15647830;15721744;15761153;15883184;15936278;16009940;16169070;16189514;16196087;16344560;1657614;1660345;16997282;17207965;17304240;17620599;18655026;19061985;19199708;19471022;19738201;19850743;19946888;20473970;20639865;20972266;21139048;21145461;21163940;21252943;21319273;21561866;21693764;21832049;21853274;21890473;21906983;21963094;21987572;21988832;22053931;22108332;22145905;22174317;22505724;22623428;22716248;22863883;22939629;23000965;23246001;23398456;23455922;24244333;24399297;24457600;24583282;24680683;24816145;25015289;2537304;2538756;2581967;8125298;8706699;8722009;9582194 6233 B2RDW1;J3QTR3;P62979 AB007163;AB061854;AB362574;ABBA01075264;AC012358;AK093614;AK225079;AK225718;AK315695;AMYH02003849;AY952889;BC001392;BC042362;BC053371;BC066293;BF678026;BM907473;BQ276758;BQ421613;CH471053;CK004647;CN344335;CR746519;DA527860;DB505702;EU794671;M10939;NG_017017;NG_033063;NM_001135592;NM_001177413;NM_002954;S79522;X63237 AAA36788;AAB21188;AAH01392;AAH42362;AAH53371;AAH66293;ACJ13725;ADQ33198;BAA25826;BAB79488;BAF81539;BAG38058;CAA44911;EAX00106;EAX00107;EAX00108;EAX00109;EAX00110;NP_001129064;NP_001170884;NP_002945;P62979 Hs.311640;Hs.546292;Hs.743392 2168351;5114803 D2S2663;RP_S27A_1 CEP80;HEL112;HUBCEP80;S27A;UBA80;UBC;UBCEP1;UBCEP80 40S ribosomal protein S27a;OTTHUMP00000200786;OTTHUMP00000200788;OTTHUMP00000200789;OTTHUMP00000201692;epididymis luminal protein 112;ubiquitin C;ubiquitin and ribosomal protein S27a;ubiquitin carboxyl extension protein 80;ubiquitin-40S ribosomal protein S27a;ubiquitin-CEP80 APPROVED protein-coding ENSG00000143947 HGNC:10417 01878 191343 REVIEWED 1353685 RPS27AP1 ribosomal protein S27a pseudogene 1 17 17 17 p13.1 10193237 10193786 + 10162030 10162579 + 10258713 10259262 + 10772958;19123937 103911 ABBA01054973;AC005291;AC083783;AMYH02032962;NG_000960 RPS27AP;RPS27A_6_1513 pseudo HGNC:17121 INFERRED 2305344 RPS27AP11 ribosomal protein S27a pseudogene 11 6 6 6 q21 114644160 114644696 + 113902665 113903201 + 113581463 113581999 + 6480464 19123937;22108332 728590 ABBA01026068;AL357519;AMYH02014327;NG_010049 RPS27A_4_740 pseudo HGNC:36126 INFERRED 2304775 RPS27AP10 ribosomal protein S27a pseudogene 10 5 5 5 q31 137045249 137045707 + 140968505 140968963 + 141588938 141589396 + 19123937 100271377 ABBA01026408;AC008781;AMYH02012347;NG_009844 RPS27A_3_621 pseudo HGNC:36570 INFERRED 2305896 RPS27AP12 ribosomal protein S27a pseudogene 12 7 7 7 q36.3 151412063 151412607 + 156985030 156985574 + 157192336 157192880 + 6480464 19123937;22108332 100130446 ABBA01032364;AC004898;AMYH02017157;CH236954;NG_010744 RPS27A_5_866 pseudo HGNC:35732 INFERRED 2304350 RPS27AP13 ribosomal protein S27a pseudogene 13 8 8 8 q11.23 50789619 50790090 - 54799568 54800039 - 53887008 53887479 - 19123937 100130300 ABBA01041727;AC113194;AMYH02017995;NG_011310 RPS27A_4_904 pseudo HGNC:36667 INFERRED 2304774 RPS27AP14 ribosomal protein S27a pseudogene 14 9 9 9 p24.3 1082406 1082859 - 1164414 1164867 - 1164414 1164867 - 19123937 100271378 ABBA01065448;AL356498;AMYH02019035;NG_010076 RPS27A_5_955 pseudo HGNC:36530 INFERRED 2304773 RPS27AP15 ribosomal protein S27a pseudogene 15 9 9 9 q21.12 45928919 45929371 - 75356068 75356520 - 72741152 72741604 - 19123937 100271379 ABBA01033864;AL591662;AMYH02020984;NG_010082 RPS27A_6_985 pseudo HGNC:35817 INFERRED 2305880 RPS27AP16 ribosomal protein S27a pseudogene 16 16 16 16 q21 45593777 45594303 - 61089318 61089844 - 61055414 61055940 - 6480464 19123937;22108332 643358 ABBA01025348;AC026473;AMYH02032161;NG_010157 1709100 SHGC-85708 RPS27A_8_1488 pseudo HGNC:36855 INFERRED 2305482 RPS27AP17 ribosomal protein S27a pseudogene 17 X X X p22.31 11133231 11133923 + 6907370 6908062 + 6989329 6990021 + 19123937 392425 ABBA01029197;AC130893;AMYH02038811;CH471074;NG_011207 EAW98745 RPS27A_9_1763 pseudo HGNC:36877 INFERRED 1606153 RPS27AP2 ribosomal protein S27a pseudogene 2 20 20 20 p11.2 17571931 17572472 + 17497446 17497987 + 17516801 17517342 + 19123937 140752 ABBA01054024;AL031664;AMYH02036766;NG_000995;NG_012423 RPS27A_7_1686;dJ531H16.4 pseudo HGNC:16572 INFERRED 1346749 RPS27AP3 ribosomal protein S27a pseudogene 3 20 20 20 q11.2 32385244 32385757 + 35677641 35678154 + 37049238 37049751 + 19123937 140714 ABBA01006609;AL391114;AMYH02037042;NG_000985 RPS27AP;RPS27A_8_1699;bA332A4.3 pseudo HGNC:16538 INFERRED 1348750 RPS27AP4 ribosomal protein S27a pseudogene 4 14 14 14 q12 7592168 7592674 - 27727892 27728398 - 27258686 27259192 - 19123937 326323 ABBA01061367;AL356015;AMYH02028906;NG_002573 RPS27A_7_1343 pseudo HGNC:19775 INFERRED 2304778 RPS27AP5 ribosomal protein S27a pseudogene 5 1 1 1 q31.2 165794987 165795533 + 192685267 192685813 + 192716137 192716683 + 19123937 100271374 ABBA01027643;AL136454;AMYH02002377;NG_010047 RPS27A_1_141 pseudo HGNC:36867 INFERRED 2305048 RPS27AP6 ribosomal protein S27a pseudogene 6 1 1 1 q21 123969400 123969802 - 150853708 150854110 - 150881232 150881634 - 19123937 100271144 ABBA01049359;AL355860;AMYH02001864;NG_010216;NG_028248 RPS27A_1_97 pseudo HGNC:36236 INFERRED 2304777 RPS27AP8 ribosomal protein S27a pseudogene 8 3 3 3 q26.31 170341944 170342385 - 171943218 171943659 - 172225428 172225869 - 19123937 100271375 ABBA01058654;AC092964;AMYH02008145;NG_010054 RPS27A_2_437 pseudo HGNC:36361 INFERRED 2304854 RPS27AP7 ribosomal protein S27a pseudogene 7 2 2 2 p16.3 47949623 47950570 + 48110106 48111053 + 47882967 47883914 + 19123937 728971 ABBA01075178;AC079807;AMYH02003767;NG_008397;NG_010726 RPS27A_2_217 pseudo HGNC:35735 INFERRED 2304776 RPS27AP9 ribosomal protein S27a pseudogene 9 5 5 5 q14 75695660 75696102 - 79794349 79794791 - 80498530 80498972 - 19123937 100271376 ABBA01062041;AC008771;AMYH02011667;NG_010060 RPS27A_3_585 pseudo HGNC:35630 INFERRED 1349846 RPS27P1 ribosomal protein S27 pseudogene 1 10 10 10 q23.32 87048220 87048450 + 93304615 93304845 + 91544858 91545088 + 19123937 414228 ABBA01021926;AL161798;AMYH02023523;NG_010089 FLJ37306;RPS27_10_1079;bA108M11.3 pseudo HGNC:23740 INFERRED 2305687 RPS27P10 ribosomal protein S27 pseudogene 10 2 2 2 q34 205931586 205931929 - 212163603 212163946 - 211298878 211299221 - 19123937 646233 ABBA01062750;AC013404;AMYH02005689;NG_009589 RPS27_2_322 pseudo HGNC:35961 INFERRED 2305075 RPS27P11 ribosomal protein S27 pseudogene 11 3 3 3 p21.3-p21.2 27602064 27602407 - 27665636 27665979 - 27624145 27624488 - 19123937 100271115 ABBA01024987;AC098614;AMYH02006444;NG_010022 RPS27_3_353 pseudo HGNC:36014 INFERRED 1344574 RPS27L ribosomal protein S27-like This gene encodes a protein sharing 96% amino acid similarity with ribosomal protein S27, which suggests the encoded protein may be a component of the 40S ribosomal subunit. [provided by RefSeq, Jul 2008] 15 15 15 q22.2 40325147 40329349 - 63445539 63449741 - 63153340 63157542 - 6480464 11042152;12477932;15489334;17057733;17207965;18056458;18457437;21139048;21150319;21170087;21853274;21906983;21942715;21963094;22810585;22863883;22939629;23826192;24337577;24816145 51065 C9J1C5;C9JLI6;H0YMV8;Q71UM5 ABBA01038919;AC087612;AF070668;AK024591;AMYH02030580;AW013916;BC003667;BC031307;BC047648;CH471082;NM_015920 AAD20974;AAH03667;ADQ33191;EAW77639;EAW77640;NP_057004;Q71UM5 Hs.108957 1750747;5022651 D11S2921;SHGC-32722 40S ribosomal protein S27-like;OTTHUMP00000207681;OTTHUMP00000207682;OTTHUMP00000207683;OTTHUMP00000207684 APPROVED protein-coding HGNC:18476 18003 612055 REVIEWED 2305073 RPS27P12 ribosomal protein S27 pseudogene 12 3 3 3 q21 127367979 127368315 - 128936879 128937215 - 129218036 129218372 - 19123937 100271117 ABBA01020932;AC135587;AMYH02007637;NG_010035 RPS27_4_403 pseudo HGNC:35843 INFERRED 2304479 RPS27P13 ribosomal protein S27 pseudogene 13 4 4 4 p15.2 23046733 23047079 + 22595784 22596130 + 22594161 22594507 + 19123937;22118674 100130070 ABBA01032666;AC098583;AMYH02008879;NG_010105 RPS27_6_465 pseudo HGNC:36203 INFERRED 2305072 RPS27P15 ribosomal protein S27 pseudogene 15 6 6 6 q14-q15 74722905 74723247 + 74328035 74328377 + 73618312 73618654 + 19123937 100271118 AL121972;AMYH02013915;NG_010046 RPS27_8_714 pseudo HGNC:35863 INFERRED 2305455 RPS27P14 ribosomal protein S27 pseudogene 14 5 5 5 q13.2 65767997 65768332 + 68765679 68766014 + 69469852 69470187 + 19123937 100129279 ABBA01048268;AC144587;AC145146;AMYH02011476;NG_011327 RPS27_7_572 pseudo HGNC:35923 INFERRED 2305071 RPS27P16 ribosomal protein S27 pseudogene 16 7 7 7 p15.1 30196798 30196974 + 30207444 30207620 + 30167828 30168004 + 19123937 100271119 ABBA01056812;AC007036;AMYH02015453;NG_010053 RPS27_9_801 pseudo HGNC:36560 INFERRED 2305121 RPS27P17 ribosomal protein S27 pseudogene 17 7 7 7 q21.3 88003437 88003779 - 93299081 93299423 - 93669769 93670111 - 19123937 392748 ABBA01045789;AC002075;AMYH02016281;CH236949;NG_005350 EAL24141 RPS27_5_819 pseudo HGNC:36291 INFERRED 2304772 RPS27P18 ribosomal protein S27 pseudogene 18 10 10 10 q26.13 120935691 120935947 - 127162248 127162504 - 125473679 125473935 - 19123937 100271380 ABBA01034166;AL929444;AMYH02023993;NG_010087 RPS27_6_1109 pseudo HGNC:36296 INFERRED 2304620 RPS27P19 ribosomal protein S27 pseudogene 19 INTERACTS WITH dioxygen; zinc atom; zinc(0) 11 11 11 q23.3 114064228 114064573 - 116906456 116906801 - 117035740 117036085 - 6480464 19123937;22118674 100129905 ABBA01039744;AMYH02025624;AP000936;NG_010583 1660984;1722533;1789238;1814332;1815224;1831152;1836746;1839848;2002652;2002654;2002656;2002658;2002660;2002662;2002664;2002666;2002668;2002670;2002672;2097280;2097282;2166277 ECD08195;ECD08647;ECD16712;ECD19537;ECD21107;G60193;G65618;REN72238;REN72239;REN72240;REN72241;REN72242;REN72243;REN72244;REN72245;REN72246;REN72247;REN72248;SHGC-31431;WI-22750;stSG601972;stSG601973 RPS27_7_1180 pseudo HGNC:36094 INFERRED 2303443 RPS27P2 ribosomal protein S27 pseudogene 2 15 15 15 q11.2 3317929 3318472 - 25155861 25156404 - 24910714 24911257 - 19123937 654390 ABBA01048688;AC090602;AMYH02030093;NG_002690 HsT16324;RPS27_11_1420 pseudo HGNC:31035 VALIDATED 2304532 RPS27P20 ribosomal protein S27 pseudogene 20 11 11 11 q24.3 126576456 126576792 + 129407732 129408068 + 129537837 129538173 + 19123937 100271581 ABBA01023020;AMYH02025775;AP003500;NG_011143 RPS27_11_1188 pseudo HGNC:36333 INFERRED 2305097 RPS27P21 ribosomal protein S27 pseudogene 21 12 12 12 q12 41874547 41874888 - 43072619 43072960 - 42678817 42679158 - 19123937;22118674 100131905 ABBA01031412;AC089982;AMYH02026368;NG_010348 RPS27_9_1229 pseudo HGNC:35826 INFERRED 2305532 RPS27P22 ribosomal protein S27 pseudogene 22 12 12 12 p12.1 28022954 28023194 + 22875163 22875403 + 22722229 22722469 + 19123937 100131418 ABBA01067987;AC087241;AMYH02026182;NG_010471 RPS27_12_1218 pseudo HGNC:36090 INFERRED 2305781 RPS27P23 ribosomal protein S27 pseudogene 23 12 12 12 q23.2 101483484 101483826 + 101818187 101818529 + 101424409 101424751 + 19123937;22118674 100130775 ABBA01053244;AC063948;AMYH02027071;NG_011114 RPS27_13_1271 pseudo HGNC:35716 INFERRED 2305598 RPS27P24 ribosomal protein S27 pseudogene 24 12 12 12 q14.2 63819099 63819439 - 64154083 64154423 - 63760303 63760643 - 19123937 100133668 ABBA01026621;AC084357;AMYH02026650;NG_010194 1790391 D12S2513 RPS27_10_1247 pseudo HGNC:37005 INFERRED 2304530 RPS27P25 ribosomal protein S27 pseudogene 25 12 12 12 q 120442253 120442592 + 120809159 120809498 + 120371356 120371695 + 19123937 100271584 ABBA01020111;AC003982;AMYH02027369;NG_011158 RPS27_14_1288 pseudo HGNC:36020 INFERRED 2304531 RPS27P26 ribosomal protein S27 pseudogene 26 16 16 16 q22 55049482 55049720 + 70478577 70478815 - 70444674 70444912 - 19123937 100271583 ABBA01010661;AC012184;AMYH02032305;NG_011154 RPS27_12_1494 pseudo HGNC:36904 INFERRED 2304529 RPS27P27 ribosomal protein S27 pseudogene 27 16 16 16 q21 43623325 43623579 + 59122741 59122995 + 59088837 59089091 + 19123937 100271585 ABBA01025319;AC106793;AMYH02032138;NG_011161 1750747 SHGC-32722 RPS27_15_1487 pseudo HGNC:36043 INFERRED 2304528 RPS27P28 ribosomal protein S27 pseudogene 28 18 18 18 q12.1 27167258 27167505 + 30359002 30359249 + 32779039 32779286 + 19123937 100271586 ABBA01022478;AC012123;AMYH02034528;NG_011166 RPS27_16_1593 pseudo HGNC:36748 INFERRED 2304730 RPS27P29 ribosomal protein S27 pseudogene 29 19 19 19 p12 23616697 23617039 + 23780109 23780451 + 23597307 23597649 + 19123937;22118674 100132291 ABBA01051435;AC073544;AMYH02035842;NG_011011 RPS27_17_1641 pseudo HGNC:36516 INFERRED 1605744 RPS27P3 ribosomal protein S27 pseudogene 3 12 12 12 p13.32 4934551 4934896 - 3320772 3321117 - 3211606 3211951 - 15869325;19123937 654365 ABBA01048784;AC005912;AMYH02025895;DQ052670;NG_005391 RPS27_8_1194 pseudo HGNC:17445 INFERRED 1605793 RPS27P4 ribosomal protein S27 pseudogene 4 3 3 3 p22.1 40741438 40741782 + 40803003 40803347 + 40761512 40761856 + 19123937 389112 ABBA01024789;AC099560;AMYH02006599;NG_005671 RPS27_5_366 pseudo HGNC:16694 INFERRED 2305074 RPS27P5 ribosomal protein S27 pseudogene 5 1 1 1 q42.13 200160121 200160365 + 226969202 226969446 + 226781501 226781745 + 19123937 100271116 ABBA01009631;AL365444;AMYH02002819;NG_010030 RPS27_4_170 pseudo HGNC:36734 INFERRED 2304476 RPS27P6 ribosomal protein S27 pseudogene 6 1 1 1 p13.3 107842798 107843142 + 109572654 109572998 + 109030032 109030376 + 19123937;22118674 100132488 ABBA01068362;AMYH02001702;BX679664;NG_009590 RPS27_2_83 pseudo HGNC:36163 INFERRED 2305330 RPS27P7 ribosomal protein S27 pseudogene 7 1 1 1 q25.1 146820254 146820598 + 173710782 173711126 + 173741643 173741987 + 19123937;22118674 100131787 ABBA01027900;AMYH02002156;BX248409;NG_011053 RPS27_3_126 pseudo HGNC:35622 INFERRED 2305540 RPS27P8 ribosomal protein S27 pseudogene 8 1 1 1 q32.1 175568074 175568418 - 202440934 202441278 - 202471806 202472150 - 19123937 653805 ABBA01027500;AC099336;AMYH02002497;NG_009601 RPS27_1_148 pseudo HGNC:36022 INFERRED 2305491 RPS27P9 ribosomal protein S27 pseudogene 9 1 1 1 p34.3 36299803 36300142 + 38021816 38022154 + 37556215 37556553 + 19123937;22118674 100131572 ABBA01023274;AL034379;AMYH02000798;CH471059;NG_009591;NG_032170 EAX07337 RPS27_1_33 pseudo HGNC:36964 INFERRED 1606050 RPS28P1 ribosomal protein S28 pseudogene 1 14 14 14 q23.2 44332490 44333371 + 64275153 64276034 + 63808435 63809316 + 22424883 652980 ABBA01018338;AL161670;AL162832;AMYH02029343;NG_005981 pseudo HGNC:23561 INFERRED 2305070 RPS28P2 ribosomal protein S28 pseudogene 2 1 1 1 q41 186254507 186254704 - 213028511 213028708 - 212855169 212855366 - 19123937 100271120 ABBA01048162;AC104333;AMYH02002651;NG_010059;NG_028131 1658438 SHGC-38147 RPS28_1_163 pseudo HGNC:36211 INFERRED 2304984 RPS28P3 ribosomal protein S28 pseudogene 3 1 1 1 q42.13 201512728 201514739 - 228322483 228324494 - 228134782 228136793 - 19123937 644862 ABBA01005830;AL359510;AMYH02002837;NG_005978 RPS28_2_172 pseudo HGNC:36589 INFERRED 2305839 RPS28P4 ribosomal protein S28 pseudogene 4 2 2 2 q37.1 225896242 225896633 + 232120779 232121170 + 231256066 231256457 + 19123937;23862649;9847074 645899 ABBA01002062;AC018738;AMYH02005965;NG_005979 RPS28_1_332 pseudo HGNC:36208 INFERRED 2305464 RPS28P6 ribosomal protein S28 pseudogene 6 7 7 7 q11.22 64781775 64782158 + 71407218 71407601 + 71942233 71942616 + 19123937 728453 ABBA01064012;AC005011;AMYH02016003;CH236952;NG_010692 RPS28_2_814 pseudo HGNC:36085 INFERRED 2305069 RPS28P5 ribosomal protein S28 pseudogene 5 2 2 2 p13.1 74812880 74813029 - 74981797 74981946 - 74754670 74754819 - 19123937 100271121 ABBA01075611;AC007387;AMYH02004092;NG_010066 RPS28_3_243 pseudo HGNC:36802 INFERRED 2305722 RPS28P7 ribosomal protein S28 pseudogene 7 11 11 11 q14.1 79710423 79710797 + 82400572 82400946 + 82689530 82689904 + 19123937;23862649 646195 ABBA01017369;AP002796;NG_005980 1656115;2131038 D11S4572;D19S1020 RPS28_3_1160 pseudo HGNC:35787 INFERRED 2304771 RPS28P8 ribosomal protein S28 pseudogene 8 13 13 13 q14.11 23635244 23635448 + 42577568 42577772 + 42003432 42003636 + 19123937 100271381 ABBA01021261;AL442203;AMYH02027928;NG_010096 RPS28_4_1309 pseudo HGNC:36938 INFERRED 2305799 RPS28P9 ribosomal protein S28 pseudogene 9 17 17 17 p11.1 20605491 20605887 - 18476035 18476431 + 18572721 18573117 + 19123937 650788 ABBA01001017;AC107983;AMYH02033116;NG_010195 RPS28_5_1524 pseudo HGNC:36193 INFERRED 1348455 RPS29P1 ribosomal protein S29 pseudogene 1 14 14 14 q24.1 49550660 49551063 - 69489778 69490062 - 69023061 69023345 - 19123937 122449 ABBA01023682;AL117694;AL391262;AMYH02029430;NG_002523 RPS29_5_1384 pseudo HGNC:19783 INFERRED 2304968 RPS29P10 ribosomal protein S29 pseudogene 10 2 2 2 p15 61661837 61662007 - 61816628 61816798 - 61589493 61589663 - 19123937 100132037 ABBA01075365;AC016727;AMYH02003931;NG_011022 RPS29_1_224 pseudo HGNC:37006 INFERRED 734258 RPS29 ribosomal protein S29 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013] 14 14 14 q 29903866 29912921 - 50043390 50053134 - 49576672 49586416 - 6480464;8699517 10708601;11751223;11875025;12477932;12588972;12625830;15189156;15489334;15883184;16196087;17353931;18029348;20301769;21890473;21906983;21988832;22589738;22863883;22939629;23000965;23726511;24250222;24390425;24657165;24816145;24829207;7772601;8706699;8722009;8781548;9582194 6235 P62273 AA410525;AB007165;AB055780;AB061847;ABBA01018109;AC019065;AK026649;AK307833;AL139099;AMYH02029146;BC015974;BC032813;BC035313;BF128896;BQ433530;BU942244;CH471078;CS185573;L31610;NM_001030001;NM_001032;U14973 AAA85661;AAB27426;AAH15974;AAH32813;AAH35313;ABM87684;ABW03911;BAA25827;BAB62874;BAB79485;CAJ42754;EAW65765;EAW65766;NP_001023;NP_001025172;P62273 Hs.156367 1770083 D14S1235 DBA13;S29 40S ribosomal protein S29;OTTHUMP00000178928;OTTHUMP00000178929 APPROVED protein-coding ENSG00000213741 HGNC:10419 04698 603633;615909 REVIEWED 2304621 RPS29P11 ribosomal protein S29 pseudogene 11 4 4 4 p15.2 26128514 26128803 + 25680438 25680731 + 25678816 25679109 + 6480464 19123937 100129902 ABBA01032703;AC092436;AMYH02008915;NG_010569;NG_021185 RPS29_8_466 pseudo HGNC:36413 INFERRED 2305640 RPS29P12 ribosomal protein S29 pseudogene 12 5 5 5 q35.3 175996453 175996720 + 180372699 180372993 + 180945699 180945993 + 19123937 100131173 ABBA01010087;AC091874;AMYH02012914;NG_010523 RPS29_9_646 pseudo HGNC:36458 INFERRED 2305068 RPS29P13 ribosomal protein S29 pseudogene 13 6 6 6 q22.1 118112998 118113169 - 117369833 117370004 - 117048670 117048841 - 19123937 100271122 ABBA01026045;AL355358;AMYH02014357;NG_010075 RPS29_2_744 pseudo HGNC:35818 INFERRED 2305098 RPS29P14 ribosomal protein S29 pseudogene 14 7 7 7 p14.3 33057651 33057821 - 33075824 33075994 - 33036212 33036382 - 19123937 100129599 ABBA01056859;AC074338;AMYH02015492;NG_010334;NG_015800 2157501 RH65871 RPS29_3_802 pseudo HGNC:36471 INFERRED 2304924 RPS29P15 ribosomal protein S29 pseudogene 15 7 7 7 q22 95256544 95256799 + 100525960 100526215 + 100928340 100928595 + 19123937 100271241 AC011895;AC118759;AMYH02016393;NG_010712 RPS29_10_826 pseudo HGNC:35876 INFERRED 2304474 RPS29P16 ribosomal protein S29 pseudogene 16 7 7 7 q22.1 97796230 97796517 + 102989018 102989306 + 103348571 103348859 + 6480464 19123937 100132499 ABBA01057988;AC004668;AMYH02016449;NG_009436 1337591 D7S2509 RPS29_11_830 pseudo HGNC:35560 INFERRED 2305336 RPS29P17 ribosomal protein S29 pseudogene 17 9 9 9 p13.3 35526314 35526602 + 35592744 35593041 + 35592747 35593044 + 6480464 19123937 100129379 ABBA01064990;AL133476;AMYH02019463;NG_010514 RPS29_13_976 pseudo HGNC:35479 INFERRED 2305914 RPS29P18 ribosomal protein S29 pseudogene 18 9 9 9 q21.33 60711468 60711760 + 90140178 90140479 + 87525263 87525564 + 19123937 643284 ABBA01016326;AL161787;AMYH02021163;NG_011384;NG_029883 1763037 SHGC-146783 RPS29_14_993 pseudo HGNC:37004 INFERRED 2303688 RPS29P2 ribosomal protein S29 pseudogene 2 8 8 8 p11.21 40077904 40078159 + 41128923 41129178 + 41271404 41271659 + 19123937 619452 ABBA01021127;AC104393;AMYH02017869;NG_009781 HsT23291;RPS29_12_897 pseudo HGNC:31083 INFERRED 2304527 RPS29P20 ribosomal protein S29 pseudogene 20 11 11 11 p15.4 4045273 4045443 + 4040178 4040348 + 4018948 4019118 + 19123937 100271587 ABBA01032043;AC087441;AMYH02024235;NG_011171 RPS29_15_1116 pseudo HGNC:36491 INFERRED 2305104 RPS29P21 ribosomal protein S29 pseudogene 21 17 17 17 q23.1 54453037 54453324 + 57989524 57989815 + 59912163 59912454 + 19123937 100129542 ABBA01003181;AC004686;AC245929;NG_009996;NG_029513 RPS29_16_1562 pseudo HGNC:36479 INFERRED 2304769 RPS29P22 ribosomal protein S29 pseudogene 22 17 17 17 q11.2 23305070 23305237 - 26443265 26443432 - 28116239 28116406 - 19123937 100271384 ABBA01015063;AC100852;AMYH02033217;NG_010116 RPS29_6_1530 pseudo HGNC:35799 INFERRED 2304526 RPS29P23 ribosomal protein S29 pseudogene 23 19 19 19 p13.2 12378221 12378371 + 12484395 12484545 + 12373581 12373731 + 19123937 100271588 ABBA01029799;AC008758;AMYH02035547;NG_011175 RPS29_17_1627 pseudo HGNC:35779 INFERRED 2304524 RPS29P25 ribosomal protein S29 pseudogene 25 19 19 19 q13 36883341 36883511 + 40081621 40081791 + 39590981 39591151 + 19123937 100271590 ABBA01040734;AC011500;AMYH02036099;NG_011183 RPS29_19_1654 pseudo HGNC:35649 INFERRED 735338 RPS28 ribosomal protein S28 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 8242910 8243806 + 8386384 8387280 + 8321500 8322396 + 6480464 11875025;12477932;12588972;15189156;15489334;15883184;16169070;16189514;16344560;17353931;18697920;19738201;21145461;21319273;21890473;21900206;21988832;22623428;22863883;22939629;23402259;23463506;23862649;24457600;24583282;24816145;8415000;8706699;8722009;9582194 6234 B2R4R9;P62857 AB007164;AB055779;AB061846;ABBA01010852;AC010323;AK293636;AK301638;AK311925;AMYH02035438;AU126783;BC000354;BC018810;BC021239;BC070217;BC070218;CH471139;CR457055;FB342959;FB711082;L05091;NG_028213;NM_001031;U58682 AAB07066;AAC15855;AAH00354;AAH21239;AAH70217;AAH70218;ABM82283;ABM85464;BAA28594;BAB62873;BAB79484;BAG34866;BAG57092;BAG63119;CAG33336;CAR81480;CAS91496;EAW68933;EAW68934;NP_001022;P62857 Hs.153177;Hs.322473 1669246;1772769;2131038;2165238;5124271 D19S1020;RH78597;RH79980;RP_S28_1;WI-17737 S28 40S ribosomal protein S28 APPROVED protein-coding HGNC:10418 04731 603685 REVIEWED 2304522 RPS29P27 ribosomal protein S29 pseudogene 27 19 19 19 q13.1 36990113 36990280 + 40188546 40188713 + 39697906 39698073 + 19123937 100271592 ABBA01040734;AC006133;AMYH02036100;NG_011193 RPS29_21_1656 pseudo HGNC:35836 INFERRED 2304770 RPS29P19 ribosomal protein S29 pseudogene 19 11 11 11 q23 110774756 110774926 - 113621838 113622008 - 113751116 113751286 - 19123937 100271383 ABBA01039782;AMYH02025595;AP003170;NG_010109 RPS29_4_1178 pseudo HGNC:36118 INFERRED 2304727 RPS29P28 ribosomal protein S29 pseudogene 28 X X X q21.33 95968422 95968562 + 95450476 95450616 + 96195477 96195617 + 19123937 100271402 ABBA01064637;AL022151;AMYH02040005;NG_010227 1337088 DXS6789 RPS29_22_1795 pseudo HGNC:36830 INFERRED 2303317 RPS29P3 ribosomal protein S29 pseudogene 3 3 3 3 q29 194845412 194845702 + 196263366 196263663 + 196536495 196536792 + 6480464 19123937 642892 ABBA01033744;AC092933;AMYH02008490;NG_009392 RPS29_7_451;bcm2758 pseudo HGNC:31363 INFERRED 2304525 RPS29P24 ribosomal protein S29 pseudogene 24 19 19 19 q13 36881315 36881485 + 40079595 40079765 + 39588955 39589125 + 19123937 100271589 ABBA01040734;AC011500;AMYH02036099;NG_011180 RPS29_18_1653 pseudo HGNC:35794 INFERRED 2305067 RPS29P4 ribosomal protein S29 pseudogene 4 1 1 1 q24-q25 148376919 148377080 + 175266216 175266377 + 175297080 175297241 + 19123937 100271123 ABBA01027872;AL008626;AMYH02002184;NG_010081 1759809 SHGC-170367 RPS29_3_129 pseudo HGNC:35908 INFERRED 2305066 RPS29P5 ribosomal protein S29 pseudogene 5 1 1 1 q25.1-q25.2 149001803 149002089 + 175891080 175891367 + 175921944 175922231 + 19123937 100271124 ABBA01027866;AL513329;AMYH02002190;NG_010086 RPS29_4_130 pseudo HGNC:35584 INFERRED 2305785 RPS29P7 ribosomal protein S29 pseudogene 7 1 1 1 p31.3 63910840 63911128 + 65620101 65620421 + 65154418 65154738 + 19123937 100128377 ABBA01074549;AC099680;AMYH02001177;NG_010628 RPS29_2_60 pseudo HGNC:36594 INFERRED 2304610 RPS29P8 ribosomal protein S29 pseudogene 8 2 2 2 q23.1 143066849 143067136 + 149352696 149352984 + 148595127 148595415 + 19123937 100132376 ABBA01028004;AC017080;AMYH02004955;NG_010119 RPS29_5_283 pseudo HGNC:36915 INFERRED 2304523 RPS29P26 ribosomal protein S29 pseudogene 26 19 19 19 q13.1 36890191 36890358 + 40088475 40088642 + 39597835 39598002 + 19123937 100271591 ABBA01040734;AC005205;AMYH02036099;NG_011188 RPS29_20_1655 pseudo HGNC:36490 INFERRED 2305800 RPS29P9 ribosomal protein S29 pseudogene 9 2 2 2 q33.3 202281097 202281395 + 208519475 208519773 + 207654751 207655049 + 6480464 19123937 648343 ABBA01062685;AC079767;AMYH02005646;NG_009588 RPS29_6_317 pseudo HGNC:36913 INFERRED 2305520 RPS2P10 ribosomal protein S2 pseudogene 10 1 1 1 q24.1 138656043 138657000 + 165550795 165551752 + 165581558 165582515 + 19123937 401974 ABBA01047282;AL356441;AMYH02002065;NG_010287 2164638 D1S2430 RPS2_4_110 pseudo HGNC:36892 INFERRED 2304375 RPS2P11 ribosomal protein S2 pseudogene 11 1 1 1 p32.3 49077700 49078637 + 50791784 50792721 + 50326112 50327049 + 19123937 343184 ABBA01050784;AL596275;AMYH02000988;NG_010755 RPS2_3_47 pseudo HGNC:36350 INFERRED 2305721 RPS2P12 ribosomal protein S2 pseudogene 12 1 1 1 p34.2 38709831 38710748 + 40428196 40429113 + 39962524 39963441 + 19123937 650901 ABBA01023194;AL663070;AMYH02000839;NG_010789 RPS2_2_35 pseudo HGNC:36546 INFERRED 2305449 RPS2P13 ribosomal protein S2 pseudogene 13 1 1 1 p33 36584341 36585176 + 38306517 38307352 + 37840845 37841680 + 19123937 100270826 ABBA01023262;AL929472;AMYH02000804;NG_011208 RPS2_1_34 pseudo HGNC:36021 INFERRED 2305421 RPS2P15 ribosomal protein S2 pseudogene 15 2 2 2 p23 26164442 26165262 - 26324186 26325005 - 26101317 26102136 - 19123937 100270858 ABBA01045173;AC011742;AMYH02003455;NG_010017 RPS2_3_202 pseudo HGNC:36468 INFERRED 2305448 RPS2P14 ribosomal protein S2 pseudogene 14 1 1 1 p13 112470720 112471442 - 114241506 114242228 - 113698884 113699606 - 19123937 100270827 ABBA01068457;AL133517;AMYH02001773;NG_011213 1692236 AL033778 RPS2_2_88 pseudo HGNC:36389 INFERRED 2305419 RPS2P16 ribosomal protein S2 pseudogene 16 2 2 2 q33.1 196379237 196380133 + 202627437 202628333 + 201762714 201763610 + 19123937 100270860 ABBA01062545;AC007279;AMYH02005550;NG_010029 1784312 SHGC-79895 RPS2_8_310 pseudo HGNC:36865 INFERRED 2305325 RPS29P6 ribosomal protein S29 pseudogene 6 1 1 1 p34.3 36074433 36074560 + 37796453 37796580 + 37330852 37330979 + 19123937 100270903 ABBA01023285;AL033524;AMYH02000794;NG_010290 RPS29_1_32 pseudo HGNC:35718 INFERRED 2305420 RPS2P19 ribosomal protein S2 pseudogene 19 3 3 3 q25.33 157526311 157526988 - 159104545 159105222 - 159386756 159387433 - 19123937 100270859 ABBA01058805;AC063955;AMYH02008008;NG_010021 RPS2_4_428 pseudo HGNC:35786 INFERRED 2305888 RPS2P17 ribosomal protein S2 pseudogene 17 2 2 2 p11.2 84971779 84972729 + 85142887 85143835 + 84915763 84916711 + 19123937 400963 ABBA01075727;AC022210;AMYH02004161;NG_010359 RPS2_6_247 pseudo HGNC:35764 INFERRED 1344279 RPS2P2 ribosomal protein S2 pseudogene 2 14 14 14 q24.3 54881693 54882641 - 74844378 74845326 - 74377675 74378623 - 19123937;9847074 326325 ABBA01030720;AC005519;AMYH02029517;NG_002575 2150492 G35764 RPS2_17_1389 pseudo HGNC:19790 INFERRED 2305657 RPS2P18 ribosomal protein S2 pseudogene 18 2 2 2 q31.1 167775750 167776694 + 174162338 174163282 + 173297610 173298554 + 19123937 643960 ABBA01020750;AC092573;AMYH02005251;NG_010622 RPS2_7_293 pseudo HGNC:36449 INFERRED 2304742 RPS2P20 ribosomal protein S2 pseudogene 20 4 4 4 q31.21 141600309 141601220 - 144270382 144271293 - 143349229 143350140 - 19123937 645018 ABBA01070001;AC097658;AMYH02010234;NG_010814 1847718 SHGC-67599 RPS2_7_524 pseudo HGNC:35992 INFERRED 2304748 RPS2P21 ribosomal protein S2 pseudogene 21 4 4 4 p13 43859679 43860635 - 43412021 43412977 - 43410004 43410960 - 19123937 441013 ABBA01014300;AC098590;AMYH02009117;NG_010939 RPS2_5_473 pseudo HGNC:35591 INFERRED 2305418 RPS2P22 ribosomal protein S2 pseudogene 22 5 5 5 p12 41783333 41784062 + 41895041 41895770 + 41894939 41895668 + 19123937 100270861 ABBA01024237;AC034222;AMYH02011221;NG_010034 RPS2_9_556 pseudo HGNC:35506 INFERRED 2305318 RPS2P23 ribosomal protein S2 pseudogene 23 5 5 5 q12 61709676 61710600 + 64711160 64712084 + 65415333 65416257 + 19123937 100270910 ABBA01048331;AC025186;AMYH02011426;NG_010324 RPS2_10_570 pseudo HGNC:35760 INFERRED 2305316 RPS2P24 ribosomal protein S2 pseudogene 24 5 5 5 q14.1 72735707 72736649 + 76841196 76842138 + 77545371 77546313 + 19123937 100270912 ABBA01061981;AC010234;AMYH02011620;NG_010336 RPS2_11_579 pseudo HGNC:35887 INFERRED 2305315 RPS2P25 ribosomal protein S2 pseudogene 25 5 5 5 q14.3 80954559 80955326 + 85058317 85059084 + 85762499 85763266 + 19123937 100270913 ABBA01062102;AC026414;AMYH02011732;NG_010344 RPS2_12_592 pseudo HGNC:36410 INFERRED 1347616 RPS2P1 ribosomal protein S2 pseudogene 1 20 20 20 q11.2 29462963 29463958 + 32710152 32711148 + 34122346 34123342 + 19123937 140755 ABBA01019210;AL031668;AMYH02036966;NG_000998 RPS2_26_1696;dJ64K7.1 pseudo HGNC:16580 INFERRED 2305476 RPS2P27 ribosomal protein S2 pseudogene 27 4 4 4 q28.3 133208680 133209612 - 135873291 135874223 - 134952136 134953068 - 19123937 440447 ABBA01044883;AC104619;AMYH02010147;NG_011372 RPS2_6_520 pseudo HGNC:36876 INFERRED 2305684 RPS2P29 ribosomal protein S2 pseudogene 29 6 6 6 p21.1 45058145 45059086 - 43506522 43507463 - 43538785 43539726 - 19123937 646294 ABBA01050676;AL355802;AMYH02013650;NG_010793 1681406 RH92187 RPS2_9_695 pseudo HGNC:36011 INFERRED 2304380 RPS2P28 ribosomal protein S2 pseudogene 28 6 6 6 p21.1 44882887 44883691 + 43331153 43331957 + 43363415 43364219 + 19123937 100132673 ABBA01050686;AL583834;AL590383;AMYH02013644;NG_010349 RPS2_13_694 pseudo HGNC:35780 INFERRED 2305317 RPS2P30 ribosomal protein S2 pseudogene 30 7 7 7 p15.1 28644293 28645060 - 28654714 28655481 - 28615097 28615864 - 19123937 100270911 ABBA01056786;AC005105;AMYH02015427;CH236948;NG_010330 RPS2_10_800 pseudo HGNC:36987 INFERRED 1343719 RPS2P3 ribosomal protein S2 pseudogene 3 14 14 14 q32.2 80495485 80496230 - 100440625 100441370 - 99974288 99975033 - 19123937 326326 ABBA01048543;AL133368;AMYH02029846;NG_002576 RPS2_19_1406 pseudo HGNC:19806 INFERRED 2305120 RPS2P31 ribosomal protein S2 pseudogene 31 7 7 7 q31.33 118925855 118926789 + 124120556 124121490 + 124480502 124481436 + 12690205;19123937;9847074 392781 ABBA01057718;AC005521;AMYH02016689;CH236947;NG_006979 EAL24326 RPS2_15_841 pseudo HGNC:36965 INFERRED 2305741 RPS2P33 ribosomal protein S2 pseudogene 33 8 8 8 q22.1 94822408 94823344 - 98636394 98637330 - 97624166 97625102 - 19123937 286150 ABBA01037505;AMYH02018471;AP002982;NG_011027 RPS2_11_929 pseudo HGNC:35549 INFERRED 2306133 RPS2P32 ribosomal protein S2 pseudogene 32 INTERACTS WITH cadmium atom 7 7 7 p15.3 23516236 23517276 + 23530007 23531047 + 23490388 23491428 + 6480464 12477932;19123937 256355 ABBA01056707;AC023105;AMYH02015365;AMYH02015366;BC026177;CH236948;NR_026676 Hs.367935 1677588;1712174 G54138;RH11754 RPS2_14_794 pseudo ENSG00000232818 HGNC:30518 VALIDATED 2305626 RPS2P34 ribosomal protein S2 pseudogene 34 9 9 9 q21.32 55315924 55316856 + 84745649 84746581 + 82130734 82131666 + 19123937 442426 ABBA01033990;AL158047;AMYH02021102;NG_010308 RPS2_16_990 pseudo HGNC:36370 INFERRED 2304923 RPS2P36 ribosomal protein S2 pseudogene 36 10 10 10 q24.1 92123004 92123834 - 98380634 98381464 - 96620877 96621707 - 19123937 100271243 ABBA01021828;AL138765;AMYH02023593;NG_010724 RPS2_13_1085 pseudo HGNC:36784 INFERRED 2305231 RPS2P37 ribosomal protein S2 pseudogene 37 11 11 11 q12.3 59115272 59116199 - 61779193 61780120 - 62011721 62012648 - 19123937 390206 ABBA01003211;AMYH02024884;AP003733;NG_010329 RPS2_14_1147 pseudo HGNC:36482 INFERRED 2304874 RPS2P38 ribosomal protein S2 pseudogene 38 11 11 11 p14.3 23678803 23679747 + 23541841 23542785 + 23520295 23521239 + 19123937 196188 ABBA01061007;AC068472;AMYH02024448;NG_010483 RPS2_18_1126 pseudo HGNC:36584 INFERRED 2305711 RPS2P35 ribosomal protein S2 pseudogene 35 9 9 9 q31.1 73392402 73393357 - 102879001 102879956 - 100116719 100117674 - 19123937 100130980 ABBA01042891;AL137072;AMYH02021335;NG_008316;NG_010860 RPS2_12_1000 pseudo HGNC:36757 INFERRED 2304922 RPS2P39 ribosomal protein S2 pseudogene 39 11 11 11 q22.3 105715945 105716612 - 108561016 108561683 - 108690289 108690956 - 19123937 100271244 ABBA01039863;AMYH02025554;AP002453;NG_010729 RPS2_15_1171 pseudo HGNC:36131 INFERRED 2304921 RPS2P41 ribosomal protein S2 pseudogene 41 12 12 12 q24.2 111942948 111943521 - 112317484 112318057 - 111879680 111880253 - 19123937 100271245 ABBA01019914;AC003029;AMYH02027212;NG_010735 RPS2_16_1278 pseudo HGNC:36357 INFERRED 2305826 RPS2P40 ribosomal protein S2 pseudogene 40 11 11 11 p15.1 17379591 17380537 + 17249798 17250745 + 17228251 17229198 + 11181995;19123937 91561 ABBA01061067;AC107956;AMYH02024378;CH471064;NG_005977 EAW68442;EAW68443;EAW68444;EAW68445 2158524 D11S1228 RPS2_17_1125 pseudo HGNC:35541 INFERRED 1352236 RPS2P4 ribosomal protein S2 pseudogene 4 14 14 14 q32.33 85358411 85359373 - 105302281 105303244 - 104835944 104836907 - 19123937 92427 ABBA01008846;AL590326;AMYH02029953;NG_002522 RPS2_20_1415 pseudo HGNC:19814 INFERRED 2304919 RPS2P42 ribosomal protein S2 pseudogene 42 12 12 12 p13.3-p13.2 20737382 20738328 + 15592438 15593384 + 15439504 15440450 + 19123937 100271247 ABBA01067890;AC092183;AMYH02026098;NG_010746;NG_031857 RPS2_19_1214 pseudo HGNC:36481 INFERRED 2304918 RPS2P44 ribosomal protein S2 pseudogene 44 16 16 16 q12.1 33122392 33123297 - 48611398 48612303 - 48577487 48578392 - 19123937 100271248 ABBA01000907;AC026470;AMYH02031988;NG_010753 RPS2_21_1482 pseudo HGNC:35811 INFERRED 2305653 RPS2P26 ribosomal protein S2 pseudogene 26 5 5 5 q22.3 110547547 110548253 - 114600028 114600734 - 115264331 115265037 - 19123937 643992 ABBA01069034;AC008494;AMYH02012000;NG_010802 1686849 RH91257 RPS2_8_601 pseudo HGNC:36157 INFERRED 1605038 RPS2P45 ribosomal protein S2 pseudogene 45 16 16 16 q22.1 53576858 53577789 + 69067533 69068464 + 69033630 69034561 + 12477932;14702039;19123937 80052 Q9HA33 ABBA01025512;AC009027;AMYH02032267;BC104819;BC104821;NG_006666 Hs.661121 2220576 UniSTS:485528 MGC132479;MGC132481;RPS2_21_1492 pseudo HGNC:25709 07765 VALIDATED 2305511 RPS2P47 ribosomal protein S2 pseudogene 47 17 17 17 q21.32 41686584 41687428 - 45236520 45237364 - 47159154 47159998 - 19123937 644388 ABBA01041118;AC002558;AMYH02033519;NG_011344 RPS2_25_1553 pseudo HGNC:35785 INFERRED 2305771 RPS2P46 ribosomal protein S2 pseudogene 46 17 17 17 p11 16762043 16763003 - 19349242 19350188 - 19445929 19446875 - 19123937 125208 ABBA01054609;AC004448;AMYH02033165;NG_002360 RPS2_22_1525 pseudo HGNC:35839 INFERRED 2304916 RPS2P49 ribosomal protein S2 pseudogene 49 17 17 17 q21 32320036 32320878 - 35497496 35498338 - 37140571 37141413 - 19123937 100271251 ABBA01012437;AC016482;AC244093;NG_010770;NG_023295 RPS2_24_1542 pseudo HGNC:36521 INFERRED 2304629 RPS2P48 ribosomal protein S2 pseudogene 48 17 17 17 q22 48302978 48303937 - 51834303 51835262 - 53756942 53757901 - 19123937 645173 ABBA01041276;AC034268;AMYH02033638;NG_010280 RPS2_26_1559 pseudo HGNC:35985 INFERRED 2303342 RPS2P5 ribosomal protein S2 pseudogene 5 12 12 12 q24.23 118316815 118317765 + 118683866 118684816 + 118246061 118247011 + 19123937 100130562 ABBA01020056;AC026366;AMYH02027330;CH471054;NG_009505 EAW98136 RPS2_20_1284;bcm384 pseudo HGNC:31386 INFERRED 2305903 RPS2P51 ribosomal protein S2 pseudogene 51 19 19 19 p13.11 16425334 16426298 + 16523472 16524437 + 16412661 16413626 + 19123937 729679 ABBA01051145;AC020917;AMYH02035682;AMYH02035683;NG_010424 RPS2_25_1632 pseudo HGNC:36422 INFERRED 2305835 RPS2P50 ribosomal protein S2 pseudogene 50 17 17 17 q12 31752537 31753474 - 34930247 34931184 - 36574408 36575345 - 19123937 729842 ABBA01012427;AC003042;AC243732;NG_011388 RPS2_23_1541 pseudo HGNC:36034 INFERRED 2304917 RPS2P52 ribosomal protein S2 pseudogene 52 19 19 19 p13 125398 126167 - 690442 691211 + 690442 691211 + 19123937 100271250 ABBA01002580;AC112708;AMYH02035120;NG_010764 RPS2_23_1615 pseudo HGNC:36059 INFERRED 2304486 RPS2P53 ribosomal protein S2 pseudogene 53 19 19 19 p13.2 12289053 12289968 + 12395129 12396044 + 12284314 12285229 + 19123937 729274 ABBA01029801;AC012618;AMYH02035547;NG_010961 RPS2_24_1626 pseudo HGNC:36690 INFERRED 2305634 RPS2P55 ribosomal protein S2 pseudogene 55 X X X p11.4 44933985 44934933 - 40794192 40795140 - 40934939 40935887 - 19123937 286444 ABBA01046756;AC092268;AMYH02039196;NG_011221 1713117 RH120346 RPS2_29_1773 pseudo HGNC:36140 INFERRED 1353342 RPS2P6 ribosomal protein S2 pseudogene 6 18 18 18 q22.2 64944964 64945915 + 68097446 68098397 + 70430210 70431161 + 19123937 342808 ABBA01056294;AC091305;AMYH02034940;NG_005666 RPS2_22_1612 pseudo HGNC:25485 INFERRED 1352846 RPS2P7 ribosomal protein S2 pseudogene 7 20 20 20 q13.12 40977591 40978533 - 44269090 44270032 - 45640451 45641393 - 19123937 86781 ABBA01052662;AL031671;AMYH02037152;NG_000946 RPS2L1;RPS2_27_1706;dJ688G8.1 pseudo HGNC:15838 INFERRED 2305215 RPS2P9 ribosomal protein S2 pseudogene 9 1 1 1 q32.1 172040678 172041532 + 198918133 198918987 + 198949004 198949858 + 19123937 100131866 ABBA01027577;AC096631;AMYH02002446;NG_010131 RPS2_5_144 pseudo HGNC:36704 INFERRED 2304920 RPS2P43 ribosomal protein S2 pseudogene 43 14 14 14 q24 56342969 56343579 - 76304871 76305481 - 75838528 75839138 - 19123937 100271246 ABBA01030693;AF107885;AMYH02029542;NG_010741;NG_016974 RPS2_18_1391 pseudo HGNC:35652 INFERRED 2305519 RPS3AP10 ribosomal protein S3a pseudogene 10 1 1 1 q24.1 139096794 139097679 + 165991426 165992312 + 166022189 166023075 + 19123937 401975 ABBA01047269;AL606495;AMYH02002073;NG_010293 RPS3A_2_114 pseudo HGNC:36036 INFERRED 1351018 RPS3AP1 ribosomal protein S3A pseudogene 1 21 21 21 q21.1 6973715 6974279 + 21802712 21803074 - 20430400 20430762 - 101241875 ABBA01057153;AMYH02037586;AP001254;NG_033124 RPS3AP pseudo ENSG00000233206 HGNC:10422 INFERRED 2305324 RPS3AP11 ribosomal protein S3a pseudogene 11 1 1 1 p34.2 41239324 41240122 + 42957386 42958184 + 42491715 42492513 + 19123937 100270904 ABBA01023132;AL445669;AMYH02000879;NG_010295 RPS3A_1_40 pseudo HGNC:36825 INFERRED 736568 RPS3 ribosomal protein S3 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit, where it forms part of the domain where translation is initiated. The protein belongs to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an endonuclease involved in the repair of UV-induced DNA damage. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Higher levels of expression of this gene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This gene is co-transcribed with the small nucleolar RNA genes U15A and U15B, which are located in its first and fifth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 11 11 11 q13.3-q13.5 72418313 72424484 + 75110535 75133346 + 75399491 75422302 + 1580863;6480464 11875025;11911468;11943484;12477932;12588972;14988002;15161933;15189156;15302935;15489334;15518571;15883184;15950189;16051665;16169070;16196087;16314389;16341674;16565220;16737853;16807684;16814409;17049931;1712897;17140567;17179743;17203973;17220478;17289661;17361185;1742346;17560175;17620334;17620599;17643375;18045535;18172692;18274552;18464793;18685789;18781797;18973764;19059439;19088750;19135240;19380743;19417104;19458393;19460357;19596686;19656744;19738201;19946888;20020773;20164180;20217897;20462248;20618440;20639865;20709134;20972266;21048991;21080425;21081666;21139048;21145461;21146485;21182205;21209461;2129557;21319273;21399639;21693764;21726808;21853274;21871177;21890473;21906983;21942715;21963094;21968017;21987572;21988832;22053931;22113938;22118674;22145905;22178446;22268729;22337587;22505724;22510408;22623428;22810585;22863883;22939629;23000965;23084401;23115242;23125841;23131551;23151878;23169665;23184937;23188828;23190606;23246001;23398456;23438482;23443559;23455922;23463506;23612971;23911537;24211576;24239944;24457201;24457600;24583282;24816145;25015289;25027693;6188845;7775413;7789996;7821789;8125298;8319909;8706699;8722009;8889548;9582194 6188 E9PJH4;E9PJN9;E9PK82;E9PL09;E9PPU1;E9PQ96;E9PQX2;E9PSF4;F2Z2S8;H0YCJ7;H0YES8;H0YEU2;H0YF32;P23396 AA976344;AB061838;AB062288;ABBA01017466;AF281313;AK129794;AK130960;AK223048;AK313051;AMYH02025118;AP000744;AW134501;AY791291;BC003137;BC003577;BC013196;BC013231;BC029981;BC034149;BC071669;BC071917;BC100284;BC150501;BE797417;BM831460;BM928330;BQ645330;CB241053;CH471076;D28344;DW448503;L16016;NM_001005;NM_001256802;NM_001260506;NM_001260507;S42658;U14990;U14991;U14992;X55715 AAA18095;AAB19349;AAB60336;AAB60337;AAB60338;AAF82383;AAH03137;AAH03577;AAH13196;AAH34149;AAH71917;AAI00285;AAI50502;AAV40835;ABM83814;ABM87135;BAA05710;BAB79476;BAB93471;BAD96768;BAG35882;CAA39248;EAW74963;NP_000996;NP_001243731;NP_001247435;NP_001247436;P23396 Hs.546286;Hs.740358 1689728;2122162;2169707;2182595;2191683;5016909 A005D09;D11S1962;MARC_4995-4996:996679647:1;RH35764;RH68863;RH94000 FLJ26283;FLJ27450;MGC87870;S3 40S ribosomal protein S3;IMR-90 ribosomal protein S3;OTTHUMP00000229804;OTTHUMP00000229805;OTTHUMP00000229874;OTTHUMP00000229877;OTTHUMP00000229878;OTTHUMP00000229879;OTTHUMP00000229880;OTTHUMP00000229882;OTTHUMP00000229883;OTTHUMP00000229886 APPROVED protein-coding ENSG00000149273 HGNC:10420 10941 600454 REVIEWED 2305323 RPS3AP12 ribosomal protein S3a pseudogene 12 1 1 1 p13.3-p13.1 117899959 117900775 - 119669118 119669934 - 119126495 119127311 - 19123937 100270905 ABBA01068511;AL359823;AMYH02001812;NG_010299 1781500 SHGC-141512 RPS3A_1_92 pseudo HGNC:35527 INFERRED 2304623 RPS3AP14 ribosomal protein S3a pseudogene 14 3 3 3 q21.2 123933593 123934440 + 125513925 125514772 + 125795082 125795929 + 19123937 729150 ABBA01016406;AC092902;AMYH02007580;NG_010327 RPS3A_7_401 pseudo HGNC:35715 INFERRED 1348881 RPS3A ribosomal protein S3A Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S3AE family of ribosomal proteins. It is located in the cytoplasm. Disruption of the gene encoding rat ribosomal protein S3a, also named v-fos transformation effector protein, in v-fos-transformed rat cells results in reversion of the transformed phenotype. This gene is co-transcribed with the U73A and U73B small nucleolar RNA genes, which are located in its fourth and third introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] 4 4 4 q31.2-q31.3 149342420 149347475 + 152020725 152025804 + 151099573 151104652 + 6480464 10713066;11790116;11790298;11823430;12463423;12477932;12588972;12690205;1398113;14499622;15047060;15146197;15189156;15231748;15303970;15489334;15572026;15592455;15883184;15889794;16055720;16159877;16169070;16196087;16263121;16385451;16964243;17081983;17267499;17289661;17353931;17361185;17461779;17620599;18457437;18781797;18809582;19019082;19596686;19738201;19805454;20020773;20686565;21081666;21139048;21145461;21182205;21319273;21726808;21853274;21857917;21890473;21906983;21942715;21963094;21987572;22145905;22174317;22178446;22505724;22586326;22623428;22863883;22939629;22944692;23000965;23184937;23246001;23398456;23438482;23443559;23455922;23463506;23612971;23862649;24332808;24457600;24816145;25027693;7821789;8076819;8647443;8706699;8722009;8877097;9566973;9573378;9582194 6189 B7Z3M5;D6R9B6;D6RAS7;D6RAT0;D6RB09;D6RED7;D6RG13;D6RGE0;D6RI02;E9PFI5;H0Y8L7;H0Y9Y4;P61247 AB007148;ABBA01070104;AC095055;AI038646;AK129825;AK291075;AK296121;AK308947;AK311788;AMYH02010302;BC000204;BC001708;BC004981;BC006298;BC009219;BC009404;BC017123;BC018954;BC019072;BC030161;BC066926;BC070211;BC071916;BQ055367;CA441711;CH471056;CN315189;CX754149;D16953;D16985;D17120;D28374;L13802;M77234;M84711;NM_001006;NM_001267699;X87373 AAA35682;AAA58487;AAA60290;AAH00204;AAH01708;AAH04981;AAH06298;AAH09219;AAH09404;AAH17123;AAH19072;AAH30161;AAH66926;AAH70211;AAH71916;ABM82069;ABM85248;BAA05740;BAA25814;BAF83764;BAG34731;BAH12261;CAA60827;EAX04988;EAX04989;EAX04990;EAX04991;EAX04992;EAX04993;EAX04994;EAX04995;NP_000997;NP_001254628;P61247 Hs.356572 1646726;5022103;5117432 D4S2325;GDB:554881;SHGC-59322 FTE1;MFTL;MGC23240;S3A;fte-1 40S ribosomal protein S3a;OTTHUMP00000220241;OTTHUMP00000220242;OTTHUMP00000220245;OTTHUMP00000220248;OTTHUMP00000220249;OTTHUMP00000220250;OTTHUMP00000220252;OTTHUMP00000220253;v-fos transformation effector protein 1 APPROVED protein-coding ENSG00000145425 HGNC:10421 01606 180478 VALIDATED 2304915 RPS2P54 ribosomal protein S2 pseudogene 54 20 20 20 q13.1 42503146 42504056 - 45789429 45790339 - 47160790 47161700 - 19123937 100271252 ABBA01052690;AL022342;AL049540;AMYH02037166;NG_010778 RPS2_28_1709 pseudo HGNC:35835 INFERRED 2304388 RPS3AP15 ribosomal protein S3a pseudogene 15 3 3 3 p12.3 75539305 75540080 - 75591256 75592104 - 75542105 75542953 - 19123937 652670 ABBA01030988;AC133041;AC244188;NG_010655 RPS3A_2_382 pseudo HGNC:35781 INFERRED 2305651 RPS3AP16 ribosomal protein S3a pseudogene 16 4 4 4 p16.3 3975420 3976268 - 4078394 4079242 - 4076667 4077515 - 19123937;9847074 727951 ABBA01008234;AC116562;AMYH02008640;NG_010748 1766801 SHGC-150129 RPS3A_3_456 pseudo HGNC:36052 INFERRED 2305061 RPS3AP17 ribosomal protein S3a pseudogene 17 4 4 4 p15.1 30415445 30416161 - 29964661 29965378 - 29963039 29963756 - 19123937 100271130 ABBA01032766;AC106868;AMYH02008964;NG_010127 RPS3A_4_467 pseudo HGNC:36083 INFERRED 2305737 RPS3AP18 ribosomal protein S3a pseudogene 18 4 4 4 q31.3 150796153 150797302 - 153472386 153473535 - 152551234 152552383 - 19123937 391706 ABBA01070123;AC023424;AMYH02010309;NG_010134 1707476;1797094;1853911;2134921;2161673 DKFZP434I0714;SHGC-67613;SHGC-67939;SHGC-84533;WI-16316 RPS3A_5_528 pseudo HGNC:35893 INFERRED 2305108 RPS3AP19 ribosomal protein S3a pseudogene 19 4 4 4 p16.1 10045159 10046006 + 9564767 9565614 + 9563147 9563994 + 19123937;9847074 728700 ABBA01032501;AC097493;AC116655;AMYH02008739;NG_009562 RPS3A_8_458 pseudo HGNC:36467 INFERRED 2305660 RPS3AP20 ribosomal protein S3a pseudogene 20 5 5 5 q14.1 74479704 74480562 - 78579911 78580769 - 79284088 79284946 - 19123937 643932 ABBA01062012;AC020898;AMYH02011642;NG_010482 RPS3A_6_581 pseudo HGNC:36141 INFERRED 1353742 RPS3AP2 ribosomal protein S3A pseudogene 2 16 16 16 p13.3 1740265 1740872 + 1527984 1528591 + 1477983 1478590 + 19123937 64725 ABBA01030306;AL031705;AMYH02031232;NG_009483 KIAA0590;RPS3A_21_1466 pseudo HGNC:14196 INFERRED 2306134 RPS3AP21 ribosomal protein S3a pseudogene 21 5 5 5 q22.1 106473812 106474694 - 110527883 110528765 - 111192185 111193067 - 19123937 402287 ABBA01069071;AC010468;AMYH02011965;NG_006521 RPS3A_7_600 pseudo HGNC:36841 INFERRED 2305779 RPS3AP22 ribosomal protein S3a pseudogene 22 5 5 5 q14.3 83570679 83571541 + 87677726 87678588 + 88381909 88382771 + 19123937 100130786 ABBA01062132;AC091826;AMYH02011758;NG_011168 RPS3A_9_594 pseudo HGNC:36573 INFERRED 2305363 RPS2P8 ribosomal protein S2 pseudogene 8 1 1 1 p32.3 50002764 50003696 - 51716234 51717166 - 51250562 51251494 - 19123937 440589 ABBA01074808;AL162430;AMYH02000998;NG_010039 1339066;1767025;2175188;7187538 D1S232;G16048;SHGC-152673 RPS2_1_48 pseudo HGNC:36207 INFERRED 2305060 RPS3AP23 ribosomal protein S3a pseudogene 23 6 6 6 q24.1 142697461 142698244 - 141956857 141957640 - 141635720 141636503 - 19123937 100271131 ABBA01025766;AL356794;AMYH02014621;NG_010136 RPS3A_8_764 pseudo HGNC:36767 INFERRED 2306149 RPS3AP25 ribosomal protein S3a pseudogene 25 7 7 7 q21.3 89022503 89023361 - 94324293 94325151 - 94694981 94695839 - 12690205;19123937 645968 ABBA01045782;AC069292;AMYH02016286;CH236949;NG_005352 EAL24135 RPS3A_9_820 pseudo HGNC:36801 INFERRED 2304912 RPS3AP27 ribosomal protein S3a pseudogene 27 7 7 7 q31 128168476 128169203 - 133417246 133417973 - 133732493 133733220 - 19123937 100271255 ABBA01001102;AC007790;AMYH02016797;CH236950;NG_010795 RPS3A_12_850 pseudo HGNC:35978 INFERRED 2304860 RPS3AP26 ribosomal protein S3a pseudogene 26 7 7 7 q22.1 92708947 92709804 - 98015062 98015919 - 98385750 98386607 - 12853948;19123937 644972 ABBA01045728;AC093799;AMYH02016330;CH236956;NG_006069;NG_013090 RPS3A_11_824 pseudo HGNC:36513 INFERRED 2305460 RPS3AP29 ribosomal protein S3a pseudogene 29 7 7 7 q21.3 92221254 92222102 - 97527608 97528456 - 97898296 97899144 - 19123937 730861 ABBA01045742;AC079781;AMYH02016319;NG_011230 1766801 SHGC-150129 RPS3A_10_823 pseudo HGNC:35531 INFERRED 1344214 RPS3AP3 ribosomal protein S3A pseudogene 3 20 20 20 q11.2 32357748 32358014 - 35650146 35650412 - 37021743 37022009 - 140713 ABBA01006609;AL391114;AMYH02037042;NG_000984 bA332A4.2 pseudo HGNC:16537 INFERRED 2304910 RPS3AP28 ribosomal protein S3a pseudogene 28 7 7 7 q34 132913948 132914778 - 138175288 138176118 - 138490543 138491373 - 19123937 100271257 ABBA01001167;AC013429;AMYH02016865;CH236950;NG_010807;NG_023286 RPS3A_13_855 pseudo HGNC:35738 INFERRED 2304909 RPS3AP32 ribosomal protein S3a pseudogene 32 8 8 8 q21.11 70965943 70966775 + 74968093 74968925 + 74055858 74056690 + 19123937 100271258 ABBA01041977;AC087672;AMYH02018232;NG_010813 RPS3A_13_917 pseudo HGNC:36717 INFERRED 2304911 RPS3AP31 ribosomal protein S3a pseudogene 31 8 8 8 p23.1 7015416 7016264 - 7953444 7954292 + 8095922 8096770 + 19123937 100271256 AC105233;NG_010800 RPS3A_12_873 pseudo HGNC:36860 INFERRED 2304908 RPS3AP33 ribosomal protein S3a pseudogene 33 8 8 8 p23 7015416 7016264 - 7048261 7049109 - 7190739 7191587 - 19123937 100271259 ABBA01007048;AC245425;AF228730;NG_010816 RPS3A_14_872 pseudo HGNC:35476 INFERRED 2304907 RPS3AP34 ribosomal protein S3a pseudogene 34 8 8 8 p23.1 1139 1987 + 12427815 12428663 - 12570306 12571154 - 19123937 100271260 AC068587;AMYH02017469;NG_010820 RPS3A_15_876 pseudo HGNC:36293 INFERRED 2304906 RPS3AP35 ribosomal protein S3a pseudogene 35 8 8 8 p23.1 11451185 11452033 - 12485941 12486789 - 12628432 12629280 - 19123937 100271261 ABBA01021634;AC068587;AMYH02017469;NG_010825 RPS3A_16_877 pseudo HGNC:35902 INFERRED 2305654 RPS3AP36 ribosomal protein S3a pseudogene 36 10 10 10 q24.1 91095515 91096379 + 97354318 97355182 + 95594561 95595425 + 19123937 643981 ABBA01021834;AL356632;AMYH02023582;NG_010737 RPS3A_16_1083 pseudo HGNC:35596 INFERRED 2304521 RPS3AP37 ribosomal protein S3a pseudogene 37 10 10 10 q21 63709988 63710834 + 70434061 70434907 + 68674304 68675150 + 19123937 100271593 ABBA01019583;AL513534;AMYH02023258;NG_011202 RPS3A_14_1056 pseudo HGNC:36691 INFERRED 2304520 RPS3AP38 ribosomal protein S3a pseudogene 38 10 10 10 q21.3 62995312 62996121 - 69720442 69721251 - 67960685 67961494 - 19123937 100271594 ABBA01019554;AL356741;AMYH02023246;NG_011211 RPS3A_17_1053 pseudo HGNC:36145 INFERRED 2305343 RPS3AP39 ribosomal protein S3a pseudogene 39 11 11 11 p15.4 3568279 3569127 - 3570925 3571773 - 3549695 3550543 - 19123937 730993 ABBA01032058;AC127526;AMYH02024223;NG_010582 2129950 D11S1193 RPS3A_18_1114 pseudo HGNC:35490 INFERRED 2304914 RPS3AP24 ribosomal protein S3a pseudogene 24 6 6 6 q24.1 141823341 141824063 + 141082677 141083399 + 140761540 140762262 + 19123937 100271253 ABBA01025773;AL591400;AMYH02014611;NG_010784 RPS3A_10_762 pseudo HGNC:36267 INFERRED 2303450 RPS3AP4 ribosomal protein S3A pseudogene 4 14 14 14 q13.2 15801344 15802497 + 35937453 35938606 + 35468247 35469400 + 100132142 ABBA01061507;AL133163;AL160231;AMYH02029008;NG_009833 pseudo HGNC:23562 INFERRED 2304519 RPS3AP41 ribosomal protein S3a pseudogene 41 11 11 11 q13.4 68682156 68683001 + 71380542 71381387 + 71669496 71670341 + 19123937 100271595 ABBA01017550;AMYH02025068;AP003498;NG_011216 RPS3A_17_1152 pseudo HGNC:37000 INFERRED 2305495 RPS3AP40 ribosomal protein S3a pseudogene 40 11 11 11 q13.2 65026669 65027183 - 67693078 67693926 - 67925607 67926455 - 19123937 100129199 ABBA01024021;AC004924;AMYH02025000;NG_010912 RPS3A_19_1151 pseudo HGNC:35869 INFERRED 2304517 RPS3AP42 ribosomal protein S3a pseudogene 42 11 11 11 q14.3 89535802 89536659 - 92231267 92232124 - 92498101 92498958 - 19123937 100271597 ABBA01040056;AMYH02025351;AP000805;NG_011229 RPS3A_20_1165 pseudo HGNC:35605 INFERRED 2305650 RPS3AP43 ribosomal protein S3a pseudogene 43 12 12 12 p13.31 10077842 10078690 - 8511606 8512454 - 8359010 8359858 - 19123937 727970 ABBA01012240;AC092865;AC247052;NG_010849 RPS3A_21_1203 pseudo HGNC:36684 INFERRED 2305585 RPS3AP44 ribosomal protein S3a pseudogene 44 13 13 13 q12.13 8219979 8220842 + 27150995 27151858 + 26576858 26577721 + 19123937 646527 ABBA01007918;AL353789;AMYH02027736;NG_010660 2189335 MARC_1239-1240:991931119:1 RPS3A_18_1305 pseudo HGNC:36761 INFERRED 2304518 RPS3AP46 ribosomal protein S3a pseudogene 46 14 14 14 q22.1 34129218 34129801 + 54079516 54080099 + 53612798 53613381 + 19123937 100271596 ABBA01018185;AL163953;AMYH02029210;NG_011220 1816806;1823724;1824754;1838282;1936644;1936646;1936648;1936650;1936652;1936654;1936656;1936658;1936660;1936662;1936664;2209538 ECD09449;ECD12954;ECD13475;ECD20315;REN39159;REN39160;REN39161;REN39162;REN39163;REN39164;REN39165;REN39166;REN39167;REN39168;REN39169;stSG628932 RPS3A_19_1365 pseudo HGNC:36338 INFERRED 2304396 RPS3AP49 ribosomal protein S3a pseudogene 49 18 18 18 q21.32 54534733 54535596 + 57816776 57817639 + 60149544 60150407 + 19123937 400652 ABBA01056176;AC090771;AMYH02034845;NG_010032 RPS3A_23_1608 pseudo HGNC:36810 INFERRED 2304516 RPS3AP47 ribosomal protein S3a pseudogene 47 15 15 15 q15.2 20178673 20179535 - 43407853 43408715 - 43115655 43116517 - 19123937 146053 ABBA01038354;ABBA01038355;AC068724;AMYH02030297;NG_010693 RPS3A_22_1428 pseudo HGNC:36744 INFERRED 2304354 RPS3AP48 ribosomal protein S3a pseudogene 48 16 16 16 p13.3 5529955 5530803 + 5320151 5320999 + 5270150 5270998 + 19123937 100127963 ABBA01026806;AC074051;AMYH02031332;NG_011131 RPS3A_22_1469 pseudo HGNC:36792 INFERRED 2304913 RPS3AP30 ribosomal protein S3a pseudogene 30 8 8 8 p23 6947532 6948380 + 6980370 6981218 + 7122848 7123696 + 19123937 100271254 ABBA01007048;AC245425;AF228730;NG_010791 RPS3A_11_871 pseudo HGNC:35538 INFERRED 2304472 RPS3AP50 ribosomal protein S3a pseudogene 50 19 19 19 q13.1 30525675 30526456 + 33832109 33832890 + 33341203 33341984 + 19123937 100271601 ABBA01012594;AC008738;AMYH02035938;NG_011245 RPS3A_24_1646 pseudo HGNC:37018 INFERRED 2304473 RPS3AP51 ribosomal protein S3a pseudogene 51 22 22 22 q12.2 14332324 14333092 - 30532619 30533387 - 30136630 30137398 - 19123937 100271600 ABBA01055291;AC003071;AMYH02038214;NG_011242 RPS3A_23_1744 pseudo HGNC:35480 INFERRED 1345978 RPS3AP5 ribosomal protein S3A pseudogene 5 10 10 10 q23.1 80315084 80315971 + 86320175 86321062 + 84560419 84561306 + 19123937;23251661 439992 ABBA01003755;AL356115;AMYH02023455;NG_009792 RPS3A_15_1074;bA486O22.3 pseudo HGNC:23744 INFERRED 6481459 RPS3AP52 ribosomal protein S3a pseudogene 52 13 13 69208316 69208618 + 68634184 68634486 + 100873818 ABBA01050297;AL355611;AMYH02028210;NG_032387 pseudo HGNC:42004 INFERRED 7174914 RPS3AP53 ribosomal protein S3a pseudogene 53 3 3 3 p25.1 15121127 15121975 + 15182863 15183711 + 15141356 15142204 + 100287512 ABBA01025145;AC090954;AMYH02006329;NG_022239 pseudo HGNC:44500 INFERRED 2304365 RPS3AP7 ribosomal protein S3a pseudogene 7 1 1 1 q42.12 199817159 199818021 + 226626233 226627095 + 226438532 226439394 + 19123937 391168 ABBA01009639;AL359704;AMYH02002817;NG_009958 RPS3A_5_169 pseudo HGNC:36376 INFERRED 1606710 RPS3AP6 ribosomal protein S3A pseudogene 6 INTERACTS WITH ursodeoxycholic acid 15 15 15 q21.3 36948504 36949362 + 60060529 60061387 + 59768330 59769188 + 6480464 19123937 145767 ABBA01038956;AC092079;AMYH02030549;NG_004861 RPS3A-like;RPS3A_20_1440 pseudo HGNC:18630 INFERRED 1344634 RPS3L1 ribosomal protein S3-like 1, G1-phase expressed 8123253 6190 HGNC:10423 2305062 RPS3AP9 ribosomal protein S3a pseudogene 9 1 1 1 q31.1 161771706 161772567 + 188663425 188664286 + 188694294 188695155 + 19123937 100271129 ABBA01027686;AMYH02002332;BX005030;NG_010121 RPS3A_4_140 pseudo HGNC:36150 INFERRED 2305063 RPS3AP8 ribosomal protein S3a pseudogene 8 1 1 1 q25 156346716 156347487 + 183235635 183236406 + 183266500 183267271 + 19123937 100271127 ABBA01027752;AL356981;AMYH02002280;NG_010108 RPS3A_3_138 pseudo HGNC:35638 INFERRED 1352991 RPS3P2 ribosomal protein S3 pseudogene 2 20 20 20 q11.2 33877182 33877891 + 37166393 37167102 + 38537750 38538459 + 19123937 140761 ABBA01052526;AL049868;AMYH02037062;NG_001004 1710652 SHGC-81042 RPS3_4_1701;dJ927M24.3 pseudo HGNC:16603 INFERRED 1346563 RPS3P1 ribosomal protein S3 pseudogene 1 20 20 20 p12 14059532 14059723 + 13984155 13984346 + 14003509 14003700 + 140754 ABBA01053978;AL117333;AMYH02036726;NG_000997 dJ631M13.3 pseudo HGNC:16579 INFERRED 2305417 RPS3P4 ribosomal protein S3 pseudogene 4 6 6 6 p25 8568746 8569582 - 7338994 7339831 - 7338761 7339598 - 19123937 100270862 ABBA01022040;AL139095;AMYH02013059;NG_010045 RPS3_1_652 pseudo HGNC:36616 INFERRED 2304867 RPS3P3 ribosomal protein S3 pseudogene 3 3 3 3 q27.1 182309899 182310745 + 183867462 183868308 + 184149674 184150520 + 19123937;22118674 440991 ABBA01058458;AC131235;AMYH02008301;NG_010838 RPS3_1_443 pseudo HGNC:36700 INFERRED 2304743 RPS3P6 ribosomal protein S3 pseudogene 6 12 12 12 q14.1 62084253 62084940 - 62415269 62415956 - 62021488 62022175 - 19123937 645000 ABBA01026639;AC078872;AMYH02026632;NG_010709 1337053;1746741;1746951;1750693;2126638 D12S1726;D12S2003;G64812;G64813;SHGC-112175 RPS3_2_1244 pseudo HGNC:36061 INFERRED 2305807 RPS3P7 ribosomal protein S3 pseudogene 7 16 16 16 q23.1 63158838 63159671 + 78859149 78859982 + 78825252 78826085 + 19123937 645957 ABBA01017016;AC136603;AMYH02032456;NG_011363 RPS3_3_1501 pseudo HGNC:36056 INFERRED 2305094 RPS3P5 ribosomal protein S3 pseudogene 5 6 6 6 q16.2 100667679 100668529 + 100023558 100024408 + 99575682 99576532 + 19123937 100131956 ABBA01014479;AL137784;AMYH02014185;NG_010604 2191683 MARC_4995-4996:996679647:1 RPS3_2_726 pseudo HGNC:36869 INFERRED 2303322 RPS4XP1 ribosomal protein S4X pseudogene 1 12 12 12 q23.1 100068040 100068947 - 100402765 100403672 - 100008987 100009894 - 19123937 400064 ABBA01053264;AC126474;AMYH02027050;NG_009506 RPS4P1;RPS4X_6_1269 APPROVED pseudo HGNC:32444 INFERRED 2305058 RPS4XP10 ribosomal protein S4X pseudogene 10 8 8 8 q22.1 91551149 91551943 + 95365149 95365943 + 94352921 94353715 + 19123937 100271133 ABBA01037452;AMYH02018426;AP003534;NG_010150 RPS4P10;RPS4X_6_927 APPROVED pseudo HGNC:35741 INFERRED 2304361 RPS4XP11 ribosomal protein S4X pseudogene 11 10 10 10 p11.22 32156625 32157513 - 32391381 32392269 - 32102453 32103341 - 19123937 441550 ABBA01033392;AL161932;AMYH02022579;NG_011069 RPS4P11;RPS4X_2_1029 APPROVED pseudo HGNC:37013 INFERRED 2304768 RPS4XP12 ribosomal protein S4X pseudogene 12 11 11 11 q23.3 118280143 118280852 - 121120973 121121682 - 121250264 121250973 - 19123937 100271385 ABBA01031310;AMYH02025685;AP001124;NG_010122 RPS4P12;RPS4X_4_1183 APPROVED pseudo HGNC:35951 INFERRED 2304738 RPS4XP14 ribosomal protein S4X pseudogene 14 12 12 12 p13.33 3474200 3475066 - 1866332 1867198 - 1757166 1758032 - 19123937 729097 ABBA01048817;AC005343;AMYH02025877;NG_010015 1709784 SHGC-84708 RPS4P14;RPS4X_5_1190 APPROVED pseudo HGNC:36737 INFERRED 2305376 RPS4XP13 ribosomal protein S4X pseudogene 13 11 11 11 q12.1 54700220 54701096 - 57343702 57344578 - 57576229 57577105 - 6480464 19123937;19423540;20406964;20438785 390183 ABBA01021474;AMYH02024844;AP002893;NG_010213 RPS4P13;RPS4X_3_1145 APPROVED pseudo HGNC:36522 INFERRED 1353859 RPS4X ribosomal protein S4, X-linked Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] X X X q13.1 71835666 71840357 - 71492453 71497141 - 72272603 72277291 - 6480464;8699517 11401437;11721045;11790298;12477932;12588972;12777385;14660691;14702039;15121898;15189156;15489334;15883184;16169070;16196087;16263121;17289661;17620599;17643375;1795030;18259216;18274552;18457437;18781797;19725029;19738201;19850743;19946888;20020773;20308691;20434207;21081666;21139048;21145461;21182203;21182205;2124517;21319273;21853274;21890473;21906983;21963094;21987572;21988832;22145905;22174317;22178446;22268729;22505724;22586326;22623428;22797925;22863883;22939629;23000965;23125841;23184937;23246001;23398456;23438482;23443559;23455922;23463506;23800275;23862649;24457600;24503063;24657165;24816145;25027693;2829364;6188845;8076819;8125298;8139551;8358435;8557258;8706699;8722009;8808278;9582194;9889097 6191 A6NH36;B2R491;P62701 ABBA01046212;AF041428;AK097914;AK222479;AK311745;AL135749;AMYH02039703;BC000472;BC007308;BC071662;BC100903;BC100904;BU192706;CH471213;CR456735;L24369;M22146;M58458;NG_012524;NM_001007;Z70767 AAA36597;AAA63255;AAB96968;AAH00472;AAH07308;AAH71662;AAI00904;AAI00905;AAN87119;ABM84522;ABM85850;BAD96199;BAG34688;BAG53549;CAA94808;CAG33016;EAW71815;EAW71816;EAW71817;NP_000998;P62701 Hs.118076 2128456;2131145;2169754;2186180;2190859;5015443;5112515;5117178 DXS6724;G36429;GDB:192505;GDB:451634;RH48402;RPS4X;RPS4X-chi;STS-N95431 CCG2;DXS306;FLJ40595;RPS4;S4;SCAR;SCR10 40S ribosomal protein S4, X isoform;OTTHUMP00000023537;cell cycle gene 2;ribosomal protein S4X isoform;single copy abundant mRNA protein;single-copy abundant mRNA APPROVED protein-coding HGNC:10424 02427 312760 REVIEWED 2305870 RPS4XP17 ribosomal protein S4X pseudogene 17 17 17 17 p13.3 571739 572603 - 559972 560836 - 656732 657596 - 19123937 100128140 ABBA01054617;AC027455;AMYH02032718;NG_010733;NG_034190 RPS4P17;RPS4X_7_1505 APPROVED pseudo HGNC:36789 INFERRED 2304514 RPS4XP16 ribosomal protein S4X pseudogene 16 13 13 13 q14.3 33083798 33084683 + 52034631 52035516 + 51460495 51461380 + 14702039;19123937 220433 ABBA01051048;AL354820;NG_010070 RPS4P16;RPS4X_8_1313 APPROVED pseudo HGNC:36365 INFERRED 2305671 RPS4XP15 ribosomal protein S4X pseudogene 15 12 12 12 q21.32 88006668 88012603 + 88338663 88344595 + 87944886 87950818 + 19123937 100131055 ABBA01053428;AC090060;AMYH02026896;NG_011238 RPS4P15;RPS4X_7_1265 APPROVED pseudo HGNC:36308 INFERRED 2305581 RPS4XP18 ribosomal protein S4X pseudogene 18 18 18 18 q11.2 16980501 16981375 + 20166367 20167241 + 22586404 22587278 + 19123937 646583 ABBA01022657;AC099849;AMYH02034399;NG_010953 RPS4P18;RPS4X_10_1587 APPROVED pseudo HGNC:36170 INFERRED 2304359 RPS4XP19 ribosomal protein S4X pseudogene 19 18 18 18 p11.22 8904125 8904953 + 9019996 9020824 + 9019998 9020826 + 19123937;23251661 645573 ABBA01049943;AMYH02034282;AP005899;NG_011021 RPS4P19;RPS4X_9_1583 APPROVED pseudo HGNC:36872 INFERRED 1346043 RPS4XP2 ribosomal protein S4X pseudogene 2 20 20 20 p13 4680071 4680682 - 4610254 4610865 - 4629608 4630219 - 19123937 92507 ABBA01053856;AL121916;AL133396;AMYH02036627;NG_000950 RPS4L2;RPS4P2;RPS4Y_2_1680;dJ189G13.2 APPROVED pseudo HGNC:16563 INFERRED 8548122 RPS3AP54 ribosomal protein S3a pseudogene 54 9 9 6662366 6663858 + 6662366 6663858 + 101927101 ABBA01065389;AL162411;AMYH02019097 pseudo HGNC:49750 MODEL 2304767 RPS4XP20 ribosomal protein S4X pseudogene 20 19 19 19 q13.11 31207100 31207985 - 34513470 34514355 - 34022565 34023450 - 19123937 100271386 ABBA01004319;AC016587;AMYH02035947;NG_010128 RPS4P20;RPS4X_9_1648 APPROVED pseudo ENSG00000249987 HGNC:36437 INFERRED 2305234 RPS4XP21 ribosomal protein S4X pseudogene 21 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 2-nitrofluorene (ortholog) 19 19 19 q13.11 31277021 31277911 - 34583381 34584271 - 34092476 34093366 - 6480464 19123937 126235 ABBA01004322;AC016587;AMYH02035948;NG_009255 RPS4P21;RPS4X_10_1649 APPROVED pseudo ENSG00000186008 HGNC:36228 INFERRED 2305848 RPS4XP4 ribosomal protein S4X pseudogene 4 1 1 1 p36.12 19176773 19177631 + 20852445 20853303 + 20525952 20526810 + 19123937 441878 ABBA01059781;AL391357;AMYH02000430;NG_010104 RPS4P4;RPS4X_1_17 APPROVED pseudo HGNC:36545 INFERRED 2305059 RPS4XP5 ribosomal protein S4X pseudogene 5 2 2 2 p15 63715340 63716210 - 63870332 63871202 - 63643198 63644068 - 19123937 100271132 ABBA01075404;AC016734;AMYH02003957;NG_010143 RPS4P5;RPS4X_1_232 APPROVED pseudo HGNC:36670 INFERRED 2305453 RPS4XP22 ribosomal protein S4X pseudogene 22 19 19 19 p13.2 9689360 9690217 - 9793915 9794772 - 9683239 9684096 - 19123937 100131614 ABBA01029969;AC008759;AMYH02035472;NG_010161 RPS4P22;RPS4X_8_1621 APPROVED pseudo HGNC:36125 INFERRED 2305730 RPS4XP7 ribosomal protein S4X pseudogene 7 6 6 6 p23 14761062 14761965 + 13521445 13522348 + 13521213 13522116 + 19123937 442162 ABBA01022128;AL583828;AMYH02013133;NG_010267 RPS4P7;RPS4X_3_659 APPROVED pseudo HGNC:36885 INFERRED 2305734 RPS4XP6 ribosomal protein S4X pseudogene 6 5 5 5 p13.2 36972072 36972985 + 37085107 37086020 + 37085005 37085918 + 6480464 19123937 391777 ABBA01024176;AC008925;AMYH02011173;NG_010506 RPS4P6;RPS4X_2_555 APPROVED pseudo HGNC:36057 INFERRED 1342924 RPS4XP3 ribosomal protein S4X pseudogene 3 20 20 20 q13.31 51917183 51917576 + 55176722 55177115 + 56601666 56602059 + 128580 ABBA01052903;AL137162;AMYH02037344;NG_000967 RPS4L;RPS4P3;dJ843L14.2 APPROVED pseudo HGNC:16251 INFERRED 2305685 RPS4XP8 ribosomal protein S4X pseudogene 8 6 6 6 q25.2 155631694 155632579 + 154897390 154898275 + 154576256 154577141 + 19123937 646269 ABBA01025592;AL591419;AMYH02014773;NG_010649 RPS4P8;RPS4X_5_772 APPROVED pseudo HGNC:36683 INFERRED 2305884 RPS4Y1P1 ribosomal protein S4Y pseudogene 1 16 16 16 q23.1 59519553 59520442 - 75226298 75227187 - 75192400 75193289 - 19123937 441774 ABBA01058125;AC009078;AMYH02032396;NG_009472 1690196 RH98732 RPS4Y_1_1499 pseudo HGNC:36893 INFERRED 1351508 RPS5P1 ribosomal protein S5 pseudogene 1 6 6 6 q22.1 117322645 117323387 + 116579608 116580350 + 116258445 116259187 + 19123937 26516 ABBA01026047;AL050331;AMYH02014350;NG_000896 1791167;2118355 Rps5;WI-18669 RPS5_1_743 pseudo HGNC:10428 INFERRED 1353093 RPS4Y2 ribosomal protein S4, Y-linked 2 The protein encoded by this gene is a ribosomal protein that is highly similar to RPS4Y1. This gene is located in the male-specific region of the Y chromosome. [provided by RefSeq, Aug 2012] Y Y Y q11.223 7624905 7649869 + 22917954 22942918 + 20756068 20781032 + 1580863;6480464 12815422;20301513;20459660;21890473;21906983;21963094;22505724;22708584;23000965;24816145 140032 Q8TD47 ABBA01057475;ABBA01057476;ABBA01057477;ABBA01057478;AC009494;AF497481;NG_032924;NM_001039567 AAM18074;NP_001034656;Q8TD47 Hs.367761 2113612;5021618;5022873;5115568;5115570;5115572;5115574;5115576 RPS4Y2-1;RPS4Y2-2;RPS4Y2-3;RPS4Y2-4;RPS4Y2-5;RPS4Y2-6;RPS4Y2-7;sY1682 RPS4Y2P 40S ribosomal protein S4, Y;40S ribosomal protein S4, Y isoform 2;OTTHUMP00000034699;ribosomal protein S4, Y-linked 2 pseudogene APPROVED protein-coding ENSG00000279854;ENSG00000280146 HGNC:18501 15960 400030 REVIEWED 1348953 RPS5P2 ribosomal protein S5 pseudogene 2 21 21 21 q22.11 20707243 20707989 - 35507682 35508428 - 34135382 34136128 - 19123937 100130240 ABBA01057365;AMYH02037752;AP000315;NG_009782 RPS5_4_1727 pseudo HGNC:17222 INFERRED 1344037 RPS5P3 ribosomal protein S5 pseudogene 3 21 21 21 q22.11 20053466 20054203 - 34853846 34854569 - 33481539 33482262 - 10830953;19123937 54022 ABBA01057345;AC207981;AMYH02037740;AP000302;AP001717;NG_000903 1698838;1801634;1837022;2028834;2028836;2028838;2028840;2028842;2028844;2028846;2028848;2028850;2028852;2028854;2028856;2028858;2028860;2028862;2028864;2028866;2028868;2028870;2028872;2101284;2101286 ECD01696;ECD19675;REN85421;REN85422;REN85423;REN85424;REN85425;REN85426;REN85427;REN85428;REN85429;REN85430;REN85431;REN85432;REN85433;REN85434;REN85435;REN85436;REN85437;REN85438;REN85439;REN85440;RH102983;stSG607201;stSG607202 RPS5L;RPS5_3_1726 pseudo HGNC:10427 INFERRED 1344298 RPS4Y1 ribosomal protein S4, Y-linked 1 Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] X Y Y p11.3 88898811 88924185 + 2709623 2734997 + 2841582 2866956 + 1580863;6480464;8699517 11401437;12206807;12477932;12588972;12815422;14583743;14660691;15189156;15489334;15840729;19946888;21139048;2124517;21890473;21906983;21963094;22505724;22708584;23000965;23225889;23463506;24457600;24816145;25027693;7633446;8125298;8139551;8358435;8706699;8722009;8808278;9582194 6192 C9JEH7;P22090 ABBA01069753;ABBA01069754;ABBA01069755;ABBA01069756;AC006040;AF041427;AI167386;AK222594;AK292819;BC010286;BC100905;BC100906;BF242790;L24370;M58459;NM_001008 AAA63256;AAB96967;AAH10286;AAI00906;AAI00907;AAN87120;ABM82523;ABM85717;BAD96314;BAF85508;NP_000999;P22090 Hs.282376 1664024;1690196;1856260;2117635;2188089;2188109;5022871;5115556;5115558;5115560;5115562;5115564;5115566 DYS250;DYS386;G66050;G66060;RH98732;RPS4Y-1;RPS4Y-2;RPS4Y-3;RPS4Y-4;RPS4Y-5;RPS4Y-6;RPS4Y-7;SHGC-1318 MGC119100;MGC5070;RPS4Y;S4 40S ribosomal protein S4, Y;40S ribosomal protein S4, Y isoform 1;OTTHUMP00000034363;OTTHUMP00000034364;ribosomal protein S4Y APPROVED protein-coding ENSG00000279950 HGNC:10425 15963 470000 REVIEWED 2305533 RPS5P4 ribosomal protein S5 pseudogene 4 1 1 1 q32.3 186221650 186223933 + 212995656 212997939 + 212822314 212824597 + 19123937 100129090 ABBA01048165;AC104333;AMYH02002650;NG_010354 RPS5_1_162 pseudo HGNC:36122 INFERRED 736632 RPS5 ribosomal protein S5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 55942629 55950164 + 58898636 58906171 + 58387269 58394804 + 1580863;6480464;8554872 11751223;11790298;11875025;12477932;12588972;12651107;15189156;15489334;15635413;15883184;16159877;16196087;17901157;18464793;18809582;19167051;19380743;19471022;19738201;19807034;19946888;21045808;21139048;21145461;21252943;21319273;21693764;21890473;21906983;21942715;21963094;21987572;22145905;22174317;22178446;22268729;22505724;22586326;22623428;22863883;22939629;23000965;23181366;23184937;23246001;23398456;23402259;23443559;23798571;23862649;24250222;24332808;24583282;24816145;6188845;7772601;7821789;8125298;8318536;8706699;8722009;9582194 6193 M0QZN2;M0R0F0;M0R0R2;P46782 AB007149;AB061853;ABBA01020771;AC012313;AK223106;AK311938;AMYH02036533;AMYH02036534;BC015405;BC018151;BC018828;BC035830;BG329390;BG687415;CH471135;D28455;NM_001009;U14970 AAA85658;AAH15405;AAH18151;ABM82710;ABM85894;BAA05821;BAA25815;BAB79493;BAD96826;BAG34879;EAW72581;EAW72582;EAW72583;NP_001000;P46782 Hs.378103 1762453;1765021;2118355;2134566;5122151 A009W25;RP_S5;SHGC-146278;SHGC-148568;WI-18669 S5 40S ribosomal protein S5 APPROVED protein-coding ENSG00000083845 HGNC:10426 04695 603630 REVIEWED 2304512 RPS5P5 ribosomal protein S5 pseudogene 5 8 8 8 q21.13 77217722 77218461 + 81213032 81213771 + 80300797 80301536 + 19123937 340443 ABBA01004066;AC104212;AMYH02018301;NG_011128 RPS5_2_920 pseudo HGNC:35626 INFERRED 2305373 RPS5P7 ribosomal protein S5 pseudogene 7 X X X q23 109576099 109576819 + 109096477 109097197 + 109853248 109853968 + 19123937 392520 ABBA01043456;AC003013;AMYH02040226;NG_010389 RPS5_3_1801 pseudo HGNC:36881 INFERRED 2305555 RPS5P6 ribosomal protein S5 pseudogene 6 9 9 9 p24.1 4707010 4707742 - 4781417 4782149 - 4781417 4782149 - 19123937 392282 ABBA01065419;AL353151;AMYH02019078;NG_010474 RPS5_2_957 pseudo HGNC:35960 INFERRED 2305483 RPS5P8 ribosomal protein S5 pseudogene 8 X X X p22.31 10565417 10566143 - 6340088 6340814 - 6422047 6422773 - 19123937 392424 ABBA01044639;AC078991;AMYH02038806;NG_011198 RPS5_5_1762 pseudo HGNC:36531 INFERRED 5686917 RPS6KA2-AS1 RPS6KA2 antisense RNA 1 6 q27 166903698 166905069 + 19287968 100861523 AA707471;ABBA01033435;AI041185;AL159163;AMYH02014971;AW290888;NR_046644 Hs.634640;Hs.734159 APPROVED ncrna HGNC:40511 VALIDATED 2305692 RPS4XP9 ribosomal protein S4X pseudogene 9 6 6 6 q22.32 127746435 127747331 + 127004158 127005054 + 126683013 126683909 + 19123937 442257 ABBA01025941;AL035603;AMYH02014442;NG_010761 RPS4P9;RPS4X_4_749 APPROVED pseudo HGNC:35792 INFERRED 6481069 RPS6KA2-IT1 RPS6KA2 intronic transcript 1 (non-protein coding) 6 6 166874151 166878871 - 166460663 166465383 - 10737800 100874353 ABBA01033442;AL022069;AMYH02014967;AW992696;HG499877;NR_046793 Hs.675698 RP1-168L15.4 ncrna HGNC:41378 PREDICTED 732451 RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p 25253435 25298712 + 26856249 26901520 + 26529758 26575030 + 1580863;2315047;6480464;6484113;6907045;8554872 16421520 10318869;10469565;10480933;10521512;10635333;10648825;10673502;10679322;10723127;10753652;10837486;10880354;10949026;10980595;11139588;11160957;11171059;11175347;11260258;11297520;11432835;11500364;11507039;11551945;11684016;11861786;11914378;12019261;12036856;12080086;12093745;12213813;12235136;12393804;12477932;12569367;12594221;12618428;12626518;12832467;12842905;12897128;12917345;12917364;14702039;14709557;15024086;15073170;15112576;15117958;15121878;15206906;15276183;15342917;1545823;1545828;15489334;15615708;15647351;15757502;15861136;15905173;15910284;15929978;16039586;16213824;16217014;16223362;16282323;16341674;16626623;16710414;16738324;17081983;17192257;17512525;17634259;17965187;18029348;18084084;18402937;18450423;18451027;18722121;18813292;18950845;19036157;19150432;19332537;19470470;19675165;19716794;19808666;19913121;20048145;20304964;20628086;20849292;21035469;21044953;21075852;21139048;21423205;21501342;21832046;21890473;21900206;21906983;21963094;21987572;22006917;22031759;22050627;22246185;22249268;22357623;22427657;22505724;22586265;22674792;22683790;22863883;22865467;22939624;23401857;23455922;24036112;24269382;24269383;24529757;24627490;24654937;24816145;8125298;8141249;8248197;8413226;8601309;8630373;8663493;8688081;8756728;8939914;9030586;9214631;9218456;9261139;9353277;9381178;9430688;9528769;9687510;9721103;9770464;9829964;9914500;9915826 6195 A6NND1;E9PAN7;E9PGT3;E9PMM7;E9PPC1;E9PPN6;E9PRI4;Q15418;Q5SVM6;Q5SVM7 ABBA01034911;ABBA01034912;ABBA01034913;ABBA01034914;AK092955;AK225672;AK292722;AK294818;AK299007;AK315730;AL109743;AL627313;AMYH02000568;AMYH02000569;BC014966;BC039069;BF982517;BM836865;CH471059;L07597;NM_001006665;NM_002953;XM_005245966;XM_005245967 AAC82497;AAH14966;ABM83168;ABM86369;BAF85411;BAG38085;BAH11893;BAH12926;CAC36348;EAX07798;EAX07799;EAX07800;NP_001006666;NP_002944;Q15418;XP_005246023;XP_005246024 Hs.149957 1667080;1671740;1779324;1781706;1851101;2109777 G34845;RH70250;RPS6KA1_8600;SHGC-153325;SHGC-155194;SHGC-74446 HU-1;MAPKAPK-1a;MAPKAPK1A;RSK;RSK-1;RSK1;S6K-alpha 1;S6K-alpha-1;p90-RSK 1;p90RSK1;p90S6K 90 kDa ribosomal protein S6 kinase 1;MAP kinase-activated protein kinase 1a;MAPK-activated protein kinase 1a;MAPKAP kinase 1a;OTTHUMP00000004113;OTTHUMP00000004114;OTTHUMP00000004115;OTTHUMP00000233803;OTTHUMP00000233804;OTTHUMP00000233807;dJ590P13.1 (ribosomal protein S6 kinase, 90kD, polypeptide 1);ribosomal S6 kinase 1;ribosomal protein S6 kinase alpha 1;ribosomal protein S6 kinase alpha-1;s6 protein kinase (rsk-1) APPROVED protein-coding ENSG00000117676 HGNC:10430 03402 601684 REVIEWED 1348784 RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 6 6 6 q27 167562220 168016996 - 166822854 167275948 - 166409366 166862550 - 1580863;2315047;6480464;6907045;8554872 16421520 10480933;10501965;10521512;10837486;10880354;10949026;11160957;11175347;11495723;11698596;12016217;12393804;12477932;12832467;12897128;14574404;14646589;14702039;15112576;15276183;15345747;15489334;15995633;1602151;16217014;16621805;16626623;16810323;16878154;16895915;17192257;17370265;20379614;21035469;21527514;21988832;22939624;22939629;23128233;23259602;23455922;23602568;23635776;23727904;24403857;24722188;7623830;8141249;8663493;8688081;8756728;8939914;9155018;9381178;9687510;9770464;9829964;9915826 6196 B7Z3B5;D6R910;D6RA62;D6RD75;D6RE03;D6RHW7;F2Z2J1;Q15349 AA588877;AB073884;AB209116;ABBA01033438;ABBA01033439;ABBA01033440;ABBA01033441;ABBA01033442;ABBA01033443;AF140710;AK027727;AK095751;AK295674;AK307470;AK310428;AL022069;AL023775;AL159163;AMYH02014967;AMYH02014968;AMYH02014969;AMYH02014970;AMYH02014971;AX019387;BC002363;BC011189;BF205134;BF339000;BI836819;BQ029058;BU160797;BU617697;CH471051;KJ534936;KJ535080;KJ535087;L07598;NM_001006932;NM_021135;X85106;XM_005267092;XM_006715549;Z98049 AAC82496;AAH02363;ABM82790;ABM85979;AHW56576;AHW56719;AHW56726;BAD92353;BAG53121;BAH12151;CAA59427;CAC07738;EAW47522;EAW47523;EAW47524;NP_001006933;NP_066958;Q15349;XP_005267149;XP_006715612 Hs.655277 1336728;1338459;1680793;1694486;1717129;1720087;1753519;1767874;2119211;2133871;2146158;2161860;2176318;2178078;2180799;2186273;2219654 A002B12;AL022447;AL023486;AL023487;D6S1169E;D6S1585;D6S297;RH121484;RH121975;RH123785;RH45609;RH65049;RPS6KA2__5527;SHGC-107446;SHGC-57104;STS-W96228;WI-17352 HU-2;MAPKAPK-1c;MAPKAPK1C;RSK;RSK-3;RSK3;S6K-alpha;S6K-alpha-2;S6K-alpha2;p90-RSK 2;p90-RSK3;p90RSK2;pp90RSK3 90 kDa ribosomal protein S6 kinase 2;MAP kinase-activated protein kinase 1c;MAPK-activated protein kinase 1c;MAPKAP kinase 1c;OTTHUMP00000017601;OTTHUMP00000219225;OTTHUMP00000219226;OTTHUMP00000219227;OTTHUMP00000219228;ribosomal S6 kinase 3;ribosomal protein S6 kinase 90kDa polypeptide 2;ribosomal protein S6 kinase alpha 2;ribosomal protein S6 kinase alpha-2 APPROVED protein-coding ENSG00000071242 HGNC:10431 03403 601685 REVIEWED 1350176 RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6 This gene encodes a member of ribosomal S6 kinase family, serine-threonine protein kinases which are regulated by growth factors. The encoded protein may be distinct from other members of this family, however, as studies suggest it is not growth factor dependent and may not participate in the same signaling pathways. [provided by RefSeq, Jan 2010] X X X q21 83550763 83681714 - 83313354 83442943 - 84058346 84187935 - 1580863;2315047;6480464;6907045;8554872 16421520 10644430;11160957;12477932;12832467;14702039;15042092;15632195;15772651;16169070;16865262;17314274;17709345;18029348;18628456;19584160;19679225;21239520;21372219;21384559;21832049;21875487;21890473;21900206;21963094;21987572;22020623;22297070;22939624;22939629;23635776;23942078;24250222;24338215;24816145 27330 Q9UK32 ABBA01051519;ABBA01051520;ABBA01051521;ABBA01051522;ABBA01051523;ABBA01051524;ABBA01051525;ABBA01051526;ABBA01051527;ABBA01051528;ABBA01051529;ABBA01051530;ABBA01051531;ABBA01051532;ABBA01051533;ABBA01051534;AC003001;AF184965;AK023104;AK026301;AK310346;AK313240;AL022160;AL035552;AL121867;AL354653;AL389887;AL590228;AL593849;AL603626;AMYH02039880;AMYH02039881;AMYH02039882;BC143647;BC143648;BQ448025;CH471104;CR536566;CS172421;NG_016340;NM_014496;XM_005262123 AAF13190;AAI43649;AAI46381;AAI48803;BAG36051;CAG38803;CAJ32899;EAW98575;NP_055311;Q9UK32;XP_005262180 Hs.234478 1691106;1711424;2109779;2134933;2145670;2162583;2177740;5015619;5015861;7185938 D10S16;D11S3114;G42197;L47791;RH68814;RH94074;RPS6KA6_9548;SGC35226;STS-H82897 PP90RSK4;RSK-4;RSK4;S6K-alpha 6;S6K-alpha-6;p90-RSK 6;p90RSK6 90 kDa ribosomal protein S6 kinase 6;OTTHUMP00000023618;ribosomal S6 kinase 4;ribosomal protein S6 kinase alpha-6 APPROVED protein-coding ENSG00000072133 HGNC:10435 02250 300303 REVIEWED 1354498 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008] X X X p22.2-p22.1 24292410 24377495 - 20168029 20285523 - 20149911 20267071 - 1580863;1601643;1601644;2315047;6480464;6484113;6907045;7240710;8554872;8699517 10319851;16421520;8955270 10094187;10436156;10480933;10528858;10739259;10856237;10862698;11139588;11157753;11160957;11175347;11181841;11297520;11311121;11432835;11438671;11495723;11507039;11544290;11564891;11752456;11853558;11896450;11992250;12054624;12387894;12393804;12439904;12477932;12562765;12601080;12773393;12777533;12792428;12796492;12832467;1374067;14678837;14702039;14973203;14986828;15109498;15276183;15489334;15515167;15772651;15833840;15861136;15879597;15919995;16217014;16223362;16537434;16626623;16691578;16879200;16964243;17081983;17100996;17192257;17213202;17225856;17318637;17512525;17938253;18029348;18156174;18402937;18722121;18775331;18813292;18976975;19036157;19129453;19150432;19435896;19453261;19716794;19953087;20234090;20301520;20383198;20385620;20819778;21061166;21139048;21183680;21224359;21501342;21614984;21619683;21890473;21900206;21930553;21963094;21987572;21988832;22031759;22113269;22685297;22863883;22918890;22939624;23041051;23118220;23329845;23455922;23541530;23602568;23608533;24085294;24086335;24141780;24284076;24311527;24416220;24719417;24797263;24816145;25002506;7523419;7566098;7623830;7813820;7943043;8141249;8688081;8939914;9353289;9528769;9546672;9687510;9770464;9829964;9832145;9837815;9887375;9915826 6197 B1AXG1;B1AXG2;B4DG22;B7ZB17;P51812 AA317826;AA858312;AB102311;AB102312;AB102313;AB102314;AB102315;AB102316;AB102317;AB102318;AB102319;AB102320;AB102321;AB102322;AB102323;AB102324;AB102325;AB102326;AB102327;AB102328;AB102329;AB102330;AB102371;AB102372;AB102373;AB102374;AB102375;AB102376;AB102377;AB102378;AB102379;AB102380;AB102381;AB102382;AB102383;AB102384;AB102385;AB102386;AB102387;AB102388;AB102389;AB102390;AB102662;AB208933;ABBA01071847;ABBA01071848;ABBA01071849;ABBA01071850;ABBA01071851;ABBA01071852;ABBA01071853;ABBA01071854;ABBA01071855;ABBA01071856;ABBA01071857;ABBA01071858;AK022869;AK294373;AK296775;AK313932;AK316482;AL732366;AL807772;AMYH02038984;AMYH02038985;AMYH02038986;AV684171;BC015451;BC096301;BC096302;BC096303;BQ427696;BU618685;CA843287;CA843526;CK905714;L07599;NG_007488;NM_004586;U08316;W00439;XM_005274573;XM_005274575;XM_005274576;XM_005274577;XM_006724505;XM_006724506;XM_006724507 AAA81952;AAC82495;AAH96301;AAH96302;AAH96303;BAC80810;BAC80811;BAC80812;BAC80813;BAC80814;BAC80815;BAC80816;BAC80817;BAC80818;BAC80819;BAC80820;BAC80821;BAC80822;BAC80823;BAC80824;BAC80825;BAC80826;BAC80827;BAC80828;BAC80829;BAC80870;BAC80871;BAC80872;BAC80873;BAC80874;BAC80875;BAC80876;BAC80877;BAC80878;BAC80879;BAC80880;BAC80881;BAC80882;BAC80883;BAC80884;BAC80885;BAC80886;BAC80887;BAC80888;BAC80889;BAC81131;BAD92170;BAG36651;BAG57633;BAG59354;BAH14853;NP_004577;P51812;XP_005274630;XP_005274632;XP_005274633;XP_005274634;XP_006724568;XP_006724569;XP_006724570 Hs.445387 1670847;1702376;1772905;1791185;1849838;1854510;2121481;2166231;5022450;5037552;5094034;5106102 1037J10_T7;A010B08;D10S275;D2S2582;D8S2279;DXS1516;DXS6969E;G33067;RH36312;RH69875;RPS6KA3;WI-20350 CLS;HU-3;ISPK-1;MAPKAPK-1b;MAPKAPK1B;MRX19;RSK;RSK-2;RSK2;S6K-alpha-3;S6K-alpha3;p90-RSK 3;p90-RSK2;p90RSK3;pp90RSK2 90 kDa ribosomal protein S6 kinase 3;MAP kinase-activated protein kinase 1b;MAPK-activated protein kinase 1b;MAPKAP kinase 1b;OTTHUMP00000023036;insulin-stimulated protein kinase 1;mental retardation, X-linked 19;ribosomal S6 kinase 2;ribosomal protein S6 kinase alpha-3 APPROVED protein-coding ENSG00000177189 HGNC:10432 02092 300075;300844;303600 REVIEWED 1348524 RPS6KB3 ribosomal protein S6 kinase, 70kDa, polypeptide 3 6200 HGNC:10438 1316377 RPS6KA4 ribosomal protein S6 kinase, 90kDa, polypeptide 4 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and c-fos. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 11 11 11 q11-q13 61452629 61465691 + 64126625 64139687 + 64359153 64372215 + 1580863;2315047;6480464;6907045 16421520 10806207;11035004;11175347;11438671;11909979;12477932;12773393;17192257;17495961;18029348;18508628;19531213;19933278;19953087;20805296;20864036;21252943;21385567;21399635;21890473;21906983;22019778;22939629;23128233;23602568;23675462;24163370;24457600;24792438;24816145;8125298;8688081;9687510;9792677;9829964;9921902 8986 A0PJF8;E9PJN1;E9PKU3;O75676 ABBA01003301;AF074715;AJ010119;AK223561;AK292163;AK298507;AK313567;AMYH02024934;AMYH02024935;AP003774;BC020451;BC028079;BC047896;BI523588;CH471076;HH961746;NM_001006944;NM_001300802;NM_003942;XM_005274379;XM_005274380;XM_005274381;XM_006718735 AAC67395;AAH28079;AAH47896;BAD97281;BAF84852;BAG60713;CAA09009;CBX51346;EAW74260;EAW74261;EAW74262;EAW74263;NP_001006945;NP_001287731;NP_003933;O75676;XP_005274436;XP_005274437;XP_005274438;XP_006718798 Hs.105584 1688504 RH93227 MSK2;RSK-B;RSKB;S6K-alpha-4 90 kDa ribosomal protein S6 kinase 4;OTTHUMP00000043253;OTTHUMP00000230475;OTTHUMP00000230477;mitogen- and stress-activated protein kinase 2;nuclear mitogen- and stress-activated protein kinase 2;ribosomal protein S6 kinase alpha 4;ribosomal protein S6 kinase alpha-4;ribosomal protein kinase B APPROVED protein-coding ENSG00000162302 HGNC:10433 04677 603606 REVIEWED 1315275 RPS6KC1 ribosomal protein S6 kinase, 52kDa, polypeptide 1 ENCODES a protein that exhibits ATP binding (inferred); phosphatidylinositol binding (inferred); protein kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; early endosome; intracellular membrane-bounded organelle; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 1 1 1 q41 186446090 186668258 + 213224588 213446808 + 213051233 213273465 + 6480464;8554872 10552933;12077123;12471243;12477932;14667819;14702039;15489334;15750338;16344560;16710414;17081983;21139048;21906983;21963094;21988832;22939624 26750 B4DHE1;B4DRK0;F5H7T0;Q96S38 AB070706;ABBA01048158;AF037447;AF477978;AK122921;AK122989;AK295053;AK299298;AL356893;AL512449;AL583826;AL645860;AMYH02002653;AMYH02002654;AMYH02002655;AMYH02002656;AMYH02002657;AMYH02002658;AMYH02002659;BC104769;BC143449;BC143473;BC143474;BX647303;CH471100;DB060692;DC323473;KF510209;NM_001136138;NM_001287218;NM_001287219;NM_001287220;NM_001287221;NM_012424;XM_005273095;XM_005273096;XM_005273098;XM_006711272 AAF13027;AAI04770;AAL84818;BAB63956;BAG53836;BAG58102;BAG61312;CAB92850;EAW93362;EAW93363;EAW93364;NP_001129610;NP_001274147;NP_001274148;NP_001274149;NP_001274150;NP_036556;Q96S38;XP_005273152;XP_005273153;XP_005273155;XP_006711335 Hs.591416 1682830;1768385;1849361;1853459;2109781;2127953;2138749;2147043;2147985;2149555;2170675;2183127;5122536 A004D08;AL009758;RH36514;RH91832;RPS6KC1_9502;SHGC-53295;SHGC-76321;SHGC-76323;SHGC-76324;SHGC-76325;SHGC-76327;SHGC-76328;WI-14762 RPK118;RSKL1;S6K-delta-1;S6PKh1;humS6PKh1 52 kDa ribosomal protein S6 kinase;OTTHUMP00000035018;OTTHUMP00000035019;SPHK1-binding protein;ribosomal S6 kinase-like protein with two PSK domains 118 kDa protein;ribosomal protein S6 kinase delta-1 protein-coding ENSG00000136643 HGNC:10439 10204 VALIDATED 1602393 RPS6P1 ribosomal protein S6 pseudogene 1 12 12 12 p13.1 18152702 18153496 + 13003891 13004685 + 12850957 12851751 + 6480464 12477932;19123937 440086 ABBA01067855;AC007688;AMYH02026066;NG_009657 RPS6_9_1210 pseudo HGNC:32478 INFERRED 1313003 RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates the S6 ribosomal protein and eucaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 64529049 64535993 + 67195935 67202879 + 67428464 67435408 + 1625616;1580863;2308795;6480464;6907045 16885148;19339977 10490847;10490848;11108711;11108720;11500364;11733037;11753643;12087098;12176053;12477932;12529391;12569102;12713446;12818373;12875979;14729629;15051500;15071500;15489334;15589845;16640565;16763566;16810323;17081983;17786541;19953087;19961954;20098747;20308064;20819778;20932932;20953835;21035469;21427355;21444676;21900206;21988832;22939629;22955948;23393338;23602568;23940030;24131622;24447338;9804755;9878560 6199 E9PIP7;E9PQF6;G3V2F1;Q9UBS0;R4GN47 AB016869;AB019245;AB208827;ABBA01024034;AF076931;AF099739;AK297527;AMYH02024996;AP003419;BC000094;BC006106;BC136564;BX337895;BX538119;CH471076;NM_003952;XM_005274164;XM_005274165;XM_006718655;XM_006718656;XM_006718657;XR_247207;XR_247208 AAD20990;AAD46063;AAH00094;AAH06106;AAI36565;BAA34402;BAA37145;BAD92064;BAG59930;EAW74618;EAW74619;EAW74620;EAW74621;NP_003943;Q9UBS0;XP_005274221;XP_005274222;XP_006718718;XP_006718719;XP_006718720 Hs.534345 1771402;2167621;5015404;5015861;5016478;5020740;5021228;5024413;5037552;5118444;7185938 D10S16;D11S3316;D8S2279;GDB:312794;GDB:434012;L17705;L17809;L17877;RH41895;STS-X97267 KLS;P70-beta;P70-beta-1;P70-beta-2;S6K-beta2;S6K2;SRK;STK14B;p70(S6K)-beta;p70S6Kb 70 kDa ribosomal protein S6 kinase 2;OTTHUMP00000236409;P70S6K2;S6 kinase-related kinase;S6K-beta;S6K-beta-2;p70 S6 kinase beta;p70 S6K-beta;p70 S6KB;p70 ribosomal S6 kinase beta;p70-S6K 2;ribosomal protein S6 kinase beta-2;serine/threonine-protein kinase 14 beta;serine/threonine-protein kinase 14B APPROVED protein-coding ENSG00000175634 HGNC:10437 10203 608939 REVIEWED 2305415 RPS6P10 ribosomal protein S6 pseudogene 10 9 9 9 p22.1 19126451 19127183 - 19200321 19201053 - 19200323 19201055 - 19123937 100270865 ABBA01065206;AL161909;AMYH02019260;NG_010065 RPS6_4_967 pseudo HGNC:36730 INFERRED 2305414 RPS6P11 ribosomal protein S6 pseudogene 11 9 9 9 p24 4554740 4555478 + 4633032 4633770 + 4633032 4633770 + 19123937 100270866 ABBA01065421;AL136231;AMYH02019075;NG_010074 RPS6_5_956 pseudo HGNC:36270 INFERRED 2305413 RPS6P12 ribosomal protein S6 pseudogene 12 9 9 9 q21.32 55928951 55929688 - 85358970 85359707 - 82744055 82744792 - 19123937 100270867 ABBA01033994;AL133391;AMYH02021108;NG_010080 RPS6_5_991 pseudo HGNC:36375 INFERRED 2305523 RPS6P13 ribosomal protein S6 pseudogene 13 9 9 9 q21.33 59559964 59560776 - 88989850 88990662 - 86374935 86375747 - 19123937 392358 ABBA01016310;AL353678;AMYH02021154;NG_010868 RPS6_6_992 pseudo HGNC:35772 INFERRED 2305561 RPS6P14 ribosomal protein S6 pseudogene 14 10 10 10 q11.22 43086619 43087324 + 49500754 49501460 + 48292711 48293417 + 19123937 100131396 ABBA01047221;AC074325;AMYH02022973;NG_010363 RPS6_6_1039 pseudo HGNC:36738 INFERRED 731644 RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013] 17 17 17 q23.1 54433949 54491301 + 57970407 58027787 + 59893046 59950426 + 1625616;1580863;1642984;1643028;1642977;1642978;1642998;2308795;1643017;1643022;1643025;1643026;6480464;6484113;6907045 14695116;15604215;15692808;15769867;16043946;16169275;16221708;16540832;16885148;17885021;19339977 10089566;10197603;10200280;10567431;10601311;10807185;10971657;10973943;11013237;11171059;11279232;11297520;11331760;11438723;11500364;11516946;11733037;11774034;11853558;11914378;12014987;12019261;12023960;12052877;12054624;12150925;12150926;12477932;12529391;12586835;12604610;12718876;12733712;12747804;12759354;12801526;12869548;14673156;14679009;14702039;14709557;15024086;15028555;15066126;15071500;15149849;15158097;15203190;15236312;15249583;15304500;15314020;15319361;15341740;15342556;15474452;15533996;15589845;15623621;15659381;15696579;15723049;15760907;15790787;15809305;15812314;15843522;15854902;15896331;15899889;15905173;15953364;16049009;16109716;16183647;16262259;16286006;16364302;16407298;16434552;16469801;16640565;16715128;16763566;16810323;16818690;16826166;16837165;16839745;16883576;16895915;16899564;16914728;16922504;16931574;16962100;16964243;17043309;17045920;17052453;17053147;17081983;17255101;17310252;17336708;17386266;17427199;17512525;17569770;17599906;17604271;17616691;17622239;17693255;17908691;17936702;18025271;18279656;18423201;18451027;18461003;18505677;18550814;18565837;18652687;18660489;18813808;18829578;18952604;19065636;19085255;19112174;19168580;1922062;19240722;19266162;19285034;19322201;19553685;19730801;19801633;19815051;19864428;19881535;19889638;19913121;19914247;19936974;19953087;19961954;19995915;20137651;20157535;20173664;20187284;20190034;20374740;20410302;20423989;20433920;20459645;20599538;20599721;20617335;20628086;20657550;20731018;20819778;20932932;20953835;20961652;21035469;21048031;21067588;21071439;21093473;21184268;21224254;21228102;21258406;21289241;21292829;21297943;21390332;21397856;21424608;21440577;21444676;21460630;21467264;21536668;21541441;21561857;21602892;21609291;21710263;21757621;21832049;21833088;21900206;21981924;21986499;21988832;22110663;22113269;22248270;22286763;22348058;22391570;22439934;22442669;22457523;22493283;22544753;22574368;22645648;22684641;22705322;22795649;22871496;22939624;22977662;23044732;23045529;23128233;23184942;23251661;23273915;23276696;23330000;23376066;23393338;23443539;23632629;23639457;23731517;23739915;23816567;23886172;23938603;24023352;24030155;24058693;24067973;24089522;24157791;24239466;24247430;24250222;24277938;24337579;24440085;24456794;24501087;24606695;24648513;24652283;24675012;24729449;24816145;24887566;8871403;9271440;9427642;9445476;9465032;9653190;9804755 6198 K7EIM2;K7EMM2;K7ER06;P23443 AA424792;ABBA01003180;ABBA01003181;ABBA01003182;AC004686;AC245929;AI806441;AK026730;AK091503;AK293247;AK297147;AK300202;AK312875;BC030763;BC036033;BC053365;BG614269;BP359158;BQ719717;CA444907;CB050838;CH471109;CS498704;JC006898;M60724;NG_029513;NM_001272042;NM_001272043;NM_001272044;NM_001272060;NM_003161;XM_006722009;XM_006722010 AAA36410;AAH36033;AAH53365;BAG35726;BAG56781;BAG59646;BAG61973;CAM82744;CDL93497;EAW94382;EAW94383;EAW94384;NP_001258971;NP_001258972;NP_001258973;NP_001258989;NP_003152;P23443;XP_006722072;XP_006722073 Hs.463642 1337337;1654322;1691718;1846588;1853449;2172758;2190903 D17S1554;D17S1604;D17S1994;G42204;MARC_10535-10536:1000147856:1;RH69849;WI-17810 P70S6K1;PS6K;S6K;S6K-beta-1;S6K1;STK14A;p70 S6K-alpha;p70 S6KA;p70(S6K)-alpha;p70-S6K;p70-S6K 1;p70-alpha 70 kDa ribosomal protein S6 kinase 1;OTTHUMP00000198109;OTTHUMP00000198110;p70 S6 kinase alpha;p70 S6 kinase, alpha;p70 S6 kinase, alpha 1;p70 S6 kinase, alpha 2;p70 ribosomal S6 kinase alpha;ribosomal protein S6 kinase I;ribosomal protein S6 kinase beta-1;s6 kinase;serine/threonine kinase 14 alpha;serine/threonine-protein kinase 14A APPROVED protein-coding ENSG00000108443 HGNC:10436 10202 608938 REVIEWED 2304851 RPS6P15 ribosomal protein S6 pseudogene 15 10 10 10 q25.2 106989777 106990542 - 113257934 113258699 - 111498176 111498941 - 19123937 100129732 ABBA01063009;AL607043;AMYH02023805;NG_011016 RPS6_7_1097 pseudo HGNC:36942 INFERRED 2305569 RPS6P16 ribosomal protein S6 pseudogene 16 11 11 11 q23.1 109259328 109260007 - 112106087 112106762 - 112235364 112236039 - 19123937 100128923 ABBA01039801;AMYH02025586;AP002884;NG_010818 RPS6_8_1176 pseudo HGNC:35668 INFERRED 1318046 RPS6KA5 ribosomal protein S6 kinase, 90kDa, polypeptide 5 ENCODES a protein that exhibits ATP binding; protein kinase activity; protein serine/threonine kinase activity; INVOLVED IN histone H2A-S1 phosphorylation; histone H3-S10 phosphorylation; histone H3-S28 phosphorylation; PARTICIPATES IN bladder cancer pathway; mitogen activated protein kinase signaling pathway; neurotrophic factor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; calcitriol 14 14 14 q31-q32.1 71385722 71575427 - 91335086 91526993 - 90870815 91060649 - 2315047;6480464;6907045;8554872 16421520 10469656;10521505;10635333;10702687;10880354;10978317;11018520;11157753;11297520;11350938;11500364;11777913;11909979;11994045;12421349;12477932;12569367;12576423;12628924;12690113;12763138;12773393;12807421;14551213;14578350;14963018;15010469;15133024;15276183;15302935;15489334;15568999;15797222;16223362;16479592;16532028;16543895;16762916;17117922;17495961;17512525;18424438;18508628;18511904;19015318;19197368;19251839;19633291;19672773;19706715;19933278;20044958;20089855;20129940;20198339;20200978;20354165;20379614;20406806;20408143;20433920;20596523;20805296;20864036;20936779;21282660;21832049;21900206;21988832;22312446;22504420;22626465;22939624;23047923;23604116;23643942;23675462;24250222;24792438;24816145;24953041;9343414;9687510;9872331;9873047 9252 B7Z2Y5;G3V2D1;G3V4D7;H0YJE1;O75582;Q9UG98 ABBA01030488;ABBA01030489;ABBA01030490;AF074393;AF080000;AF090421;AK295266;AK309925;AL050099;AL121784;AL133454;AL159191;AMYH02029735;AMYH02029736;BC017187;BF593074;BG699153;CH471061;NM_004755;NM_182398 AAC31171;AAC69577;AAD23915;AAH17187;BAH12021;CAB43270;EAW81439;EAW81440;NP_004746;NP_872198;O75582 Hs.510225 1652549;1659292;1678433;1696940;1709422;1728705;1770966;2118655;2119387 G35600;G35701;G35828;G35963;G63724;RH101942;RH66186;RH93294;SHGC-81746 MGC1911;MSK1;MSPK1;RLPK;RSKL;S6K-alpha-5 90 kDa ribosomal protein S6 kinase 5;OTTHUMP00000244979;OTTHUMP00000244980;OTTHUMP00000244981;RSK-like protein kinase;nuclear mitogen- and stress-activated protein kinase 1;ribosomal protein S6 kinase alpha-5 protein-coding ENSG00000100784 HGNC:10434 06789 603607 VALIDATED 2305825 RPS6P17 ribosomal protein S6 pseudogene 17 11 11 11 q22.2 99327298 99328118 + 102165750 102166570 + 102295019 102295839 + 19123937 120318 ABBA01039937;AMYH02025482;AP000942;NG_011320 RPS6_7_1168 pseudo HGNC:36669 INFERRED 2305057 RPS6P18 ribosomal protein S6 pseudogene 18 12 12 12 p13.3 4383299 4383902 + 2769103 2769706 + 2659937 2660540 + 19123937 100271135 ABBA01048804;AC007618;AMYH02025884;NG_010164 RPS6_8_1191 pseudo HGNC:36496 INFERRED 2305056 RPS6P19 ribosomal protein S6 pseudogene 19 12 12 12 q23.2 101287181 101287999 - 101621878 101622695 - 101228100 101228917 - 19123937 100271136 ABBA01053245;AC079953;AMYH02027068;NG_010169 RPS6_9_1270 pseudo HGNC:36136 INFERRED 735279 RPS6 ribosomal protein S6 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 9 9 9 p21 19302350 19306331 - 19376253 19380272 - 19376256 19380237 - 6480464;6907045 11438723;11790298;12045200;12477932;12586835;12588972;12820960;1301164;1446836;14702039;15051500;15121898;15189156;15231747;15303970;15477556;15489334;15590835;15809305;15883184;16169070;16196087;16263121;16286006;16314389;16428328;16810323;17081983;1712897;17220478;17361185;17565818;17620599;17693255;17726024;18029348;18039684;18157089;18274552;18348264;18362888;1837589;18423201;18457437;18565837;18632687;18642007;18697920;18809582;19417104;19596686;19738201;1985906;19946888;19954658;20020773;20434207;20617335;20625781;20811636;21045808;21067588;21102526;21139048;21145461;21147110;21182205;21233202;21460630;21726808;21734034;21765940;21792700;21890473;21906983;21968813;21987572;21988832;22145905;22174317;22178446;22268729;22367689;22451389;22505724;22586326;22623428;22797925;22863883;22939629;22996377;23000965;23084401;23125841;23184937;23246001;23255058;23264621;2334893;23398456;23443559;23455324;23455922;23463506;23612971;23703321;23765247;24244333;24583282;24816145;24906885;25027693;2840355;3279029;6188845;710442;8076819;8440735;8500771;8590812;8706699;8722009;9582194 6194 A2A3R5;A2A3R6;A2A3R7;P62753 AB062123;ABBA01065196;AK093634;AK291517;AK311861;AL391834;AMYH02019263;BC000524;BC009427;BC013296;BC027620;BC035447;BC071907;BC071908;BC094826;CH471071;D28348;J03537;M20020;M77232;NM_001010;X67309 AAA60287;AAA60288;AAA60289;AAH00524;AAH09427;AAH13296;AAH27620;AAH71907;AAH71908;AAH94826;ABM82670;ABM85951;BAA05714;BAB93455;BAF84206;BAG34802;CAA47719;EAW58635;EAW58636;EAW58637;EAW58638;EAW58639;EAW58640;EAW58641;EAW58642;EAW58643;NP_001001;P62753 Hs.408073 1648756;1667335;5127402 D9S785;RH47306;SHGC-56925 S6 40S ribosomal protein S6;OTTHUMP00000021120;OTTHUMP00000021121;OTTHUMP00000021122;phosphoprotein NP33 APPROVED protein-coding ENSG00000137154 HGNC:10429 01592 180460 REVIEWED 2305416 RPS6P2 ribosomal protein S6 pseudogene 2 2 2 2 q31.2 173461241 173461895 + 179866845 179867499 + 179002118 179002772 + 19123937 100270864 ABBA01062252;AC092640;AMYH02005333;NG_010058 RPS6_1_301 pseudo HGNC:36446 INFERRED 2304905 RPS6P20 ribosomal protein S6 pseudogene 20 12 12 q24.33 131777130 131777721 - 131292585 131293176 - 19123937 100271262 ABBA01009555;AC092850;AMYH02027564;NG_010830 RPS6_10_1296 pseudo HGNC:36940 INFERRED 2304904 RPS6P21 ribosomal protein S6 pseudogene 21 12 12 12 q24.33 131769474 131770275 + 132152025 132152826 + 131667480 131668281 + 19123937 100271263 ABBA01032807;AC117500;AMYH02027565;NG_010836 RPS6_11_1297 pseudo HGNC:36478 INFERRED 2305459 RPS6P22 ribosomal protein S6 pseudogene 22 12 12 12 q14.1 59075567 59076348 + 59413925 59414706 + 59020144 59020925 + 19123937 100129227 ABBA01026681;AC068305;AMYH02026611;NG_011052 RPS6_10_1242 pseudo HGNC:35655 INFERRED 2305786 RPS6P24 ribosomal protein S6 pseudogene 24 14 14 14 q12 10390543 10391368 + 30524367 30525194 + 30055161 30055988 + 19123937 100128358 ABBA01061394;AL133372;AMYH02028929;NG_010528 1757573 SHGC-145033 RPS6_12_1345 pseudo HGNC:36070 INFERRED 2305479 RPS6P26 ribosomal protein S6 pseudogene 26 X X X q13.2 73879359 73880196 - 73595925 73596761 - 74376090 74376926 - 19123937 392497 ABBA01059573;AC004386;AMYH02039779;NG_010262 RPS6_11_1786 pseudo HGNC:36713 INFERRED 2305625 RPS6P3 ribosomal protein S6 pseudogene 3 2 2 2 q11.2 96327461 96328283 - 102125983 102126805 - 101509521 101510343 - 19123937 644013 ABBA01073911;AC092570;AMYH02004424;NG_010900 RPS6_1_251 pseudo HGNC:36943 INFERRED 2304406 RPS6P25 ribosomal protein S6 pseudogene 25 INTERACTS WITH cyclosporin A 19 19 19 p13.2 12894616 12895433 + 13004908 13005725 + 12894094 12894911 + 6480464 19123937 729389 ABBA01029763;AD000092;AMYH02035560;NG_009292;NG_010244 RPS6_13_1629 pseudo HGNC:35948 INFERRED 2305492 RPS6P4 ribosomal protein S6 pseudogene 4 3 3 3 q26.1 161222432 161236619 + 162819827 162833942 + 163102039 163116154 + 19123937 100131548 ABBA01058774;AC128685;AMYH02008045;NG_011139 RPS6_2_432 pseudo HGNC:36548 INFERRED 2304349 RPS6P5 ribosomal protein S6 pseudogene 5 4 4 4 q13.1 63093524 63094356 - 65632824 65633656 - 64767106 64767938 - 19123937 100130347 ABBA01022866;AC104689;AMYH02009350;NG_010236 RPS6_2_487 pseudo HGNC:36242 INFERRED 1319861 RPS6KL1 ribosomal protein S6 kinase-like 1 ENCODES a protein that exhibits ATP binding (inferred); protein kinase activity (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); FOUND IN ribosome (inferred); INTERACTS WITH afimoxifene; disodium selenite; pirinixic acid 14 14 14 q24.3 55410717 55427516 - 75370657 75389985 - 74903812 74923255 - 1580863;6480464 12471243;12477932;12508121;14702039;15489334;16751776;22939624 83694 B4DSP6;H0YJ58;H0YJ80;H0YJB8;H0YJM5;H0YJR0;Q9Y6S9 ABBA01030712;AC006530;AK054800;AK093053;AK131532;AK226137;AK299846;AL390152;AMYH02029526;BC004540;BC036574;CH471061;NG_034007;NM_031464;XM_005268114;XM_005268115;XM_005268118;XM_005268120;XM_005268122;XM_006720265;XM_006720266;XM_006720267;XM_006720268;XM_006720269;XM_006720270;XM_006720271 AAD30182;AAH04540;ABM83938;ABW03554;BAB70808;BAG61708;CAH10661;EAW81203;EAW81204;EAW81205;EAW81206;NP_113652;Q9Y6S9;XP_005268171;XP_005268172;XP_005268175;XP_005268177;XP_005268179;XP_006720328;XP_006720329;XP_006720330;XP_006720331;XP_006720332;XP_006720333;XP_006720334 Hs.414481 2112138;2117747;2183413;5020948;5037530;5037552;5109281 D14S1361;D14S1385;D1S1425;D8S2279;G35510;HSC2LA072;RH78538 FLJ35734;MGC11287;RSKL2 OTTHUMP00000246162;OTTHUMP00000246209;OTTHUMP00000246214 protein-coding ENSG00000198208 HGNC:20222 18004 VALIDATED 2305751 RPS6P8 ribosomal protein S6 pseudogene 8 6 6 6 q13 74495315 74496044 - 74100761 74101490 - 73391038 73391767 - 19123937 100128450 ABBA01040316;AC019205;AMYH02013908;NG_011004 1827834;1828572;1923626;1923628;1923630;1923632;1923634;1923636;1923638;1923640;1923642;1923644;2207266;2207268 ECD15040;ECD15413;REN32637;REN32638;REN32639;REN32640;REN32641;REN32642;REN32643;REN32644;REN32645;REN32646;stSG625861;stSG625862 RPS6_3_713 pseudo HGNC:36999 INFERRED 1344088 RPS7P1 ribosomal protein S7 pseudogene 1 17 17 17 q11.2 23653924 23654600 + 26794796 26795472 + 28467778 28468454 + 19123937 388363 ABBA01015055;AC015917;AMYH02033223;NG_005669 RPS7_4_1531 pseudo HGNC:17081 INFERRED 2305531 RPS6P9 ribosomal protein S6 pseudogene 9 8 8 8 q22.3 100966960 100967783 + 104780468 104781291 + 103768240 103769063 + 19123937 100131467 ABBA01037644;AC090686;AMYH02018547;NG_010727 RPS6_4_936 pseudo HGNC:35938 INFERRED 5130802 RPS7P10 ribosomal protein S7 pseudogene 10 13 13 13 q12.11 3264925 3265586 - 22202537 22203198 - 21628398 21629059 - 6480464 100128060 ABBA01068608;AL139378;AMYH02027662;NG_009676 1752585 SHGC-106483 pseudo HGNC:39903 INFERRED 2305869 RPS6P7 ribosomal protein S6 pseudogene 7 6 6 6 q14.1 78588810 78593960 + 78201312 78206460 + 77491595 77496743 + 19123937 100128162 ABBA01040387;AL390316;AMYH02013951;NG_010850 1765837 SHGC-149259 RPS6_3_716 pseudo HGNC:36092 INFERRED 5128914 RPS6P23 ribosomal protein S6 pseudogene 23 13 13 13 q32.3 80669366 80670303 + 99825808 99826745 + 99173554 99174491 + 100130313 ABBA01027127;AL391122;AMYH02028587;NG_009870 pseudo HGNC:39581 INFERRED 2305514 RPS7P11 ribosomal protein S7 pseudogene 11 17 17 17 q21.31 41248410 41249102 - 44798914 44799606 - 46721548 46722240 - 6480464 19123937 644315 ABBA01041103;AC004098;AC217780;AC243685;AC243906;NG_011130 RPS7_6_1552 pseudo HGNC:35841 INFERRED 1348295 RPS7 ribosomal protein S7 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 2 2 2 p25 3631842 3637496 + 3622853 3628509 + 3575263 3580919 + 6480464;7240710;8554872;8699517 10625621;11823430;12477932;12588972;14702039;15189156;15231747;15489334;15883184;16159877;16196087;16582619;17310983;17620599;18274552;18697920;18781797;18809582;19061985;19380743;19683495;19738201;19946888;20020773;20301769;20639865;20811636;20873783;21114473;21139048;21145461;21319273;21561866;21693764;21853274;21890473;21906983;21963094;21987572;21988832;22053931;22145905;22268729;22505724;22586326;22623428;22863883;22939629;22944692;23000965;23169665;23246001;23398456;23443559;23563151;23862649;24244431;24332808;24457600;24583282;24654937;24816145;25015289;25036637;6188845;8318536;8522193;8706699;8722009;9582194;9687515 6201 B5MCP9;P62081 AB209386;ABBA01006103;AC108488;AF085824;AK092027;AK311794;AMYH02003194;BC002866;BC061901;BC071919;BG615667;CH471053;M77233;NG_011744;NM_001011;X74803;Z25749 AAB00969;AAH02866;AAH61901;AAH71919;AAX82027;ABM83911;ABM87233;BAD92623;BAG34737;CAA81022;EAX01056;EAX01057;EAX01058;EAX01059;NP_001002;P62081 Hs.534346;Hs.546287;Hs.646582 1680210;1846618;2172269;2181644;5022200;5037552;5113122;5113480 D2S1288;D8S2279;L18426;RH45053;RH47144;RH69178;RH78818;RH93500 DBA8;S7 40S ribosomal protein S7;OTTHUMP00000115354;OTTHUMP00000200056;OTTHUMP00000200057;OTTHUMP00000200058 APPROVED protein-coding ENSG00000171863 HGNC:10440 04712 603658;612563 REVIEWED 2305314 RPS7P12 ribosomal protein S7 pseudogene 12 X X X q26 134171670 134172335 + 133784813 133785478 + 134650783 134651448 + 19123937 100270914 ABBA01042470;AL672032;AMYH02040529;NG_010350 RPS7_6_1816 pseudo HGNC:36147 INFERRED 2305897 RPS7P13 ribosomal protein S7 pseudogene 13 X X X q21.33 95458726 95459358 - 94934098 94934730 - 95679099 95679731 - 19123937 100130435 ABBA01064699;AL365400;AMYH02039997;NG_010681 1340374 DXS6809 RPS7_7_1794 pseudo HGNC:35756 INFERRED 7247098 RPS7P15 ribosomal protein S7 pseudogene 15 4 4 4 p16.2 4405968 4406698 + 4508772 4509560 + 4507045 4507833 + 728015 ABBA01008246;AC013725;AMYH02008644;NG_030264 pseudo HGNC:48878 INFERRED 2305726 RPS7P14 ribosomal protein S7 pseudogene 14 X X X q13.2 73912743 73913404 + 73629318 73629979 + 74409483 74410144 + 19123937 646108 AC004073;AMYH02039781;NG_011138 2126497;2147708 AFM316vb5;DXS7738 RPS7_5_1787 pseudo HGNC:36602 INFERRED 2305412 RPS7P2 ribosomal protein S7 pseudogene 2 1 1 1 q21 127123641 127124185 + 154051898 154052441 + 154079422 154079965 + 19123937 100270868 ABBA01049465;AL358472;AMYH02001915;NG_010085 RPS7_1_102 pseudo HGNC:36079 INFERRED 2305118 RPS7P3 ribosomal protein S7 pseudogene 3 1 1 1 q42.2 206694738 206695420 - 233424555 233425237 - 233288809 233289491 - 19123937 440732 ABBA01033075;AL133380;AL359819;AMYH02002911;NG_009603 RPS7_2_175 pseudo HGNC:36518 INFERRED 2305411 RPS7P6 ribosomal protein S7 pseudogene 6 4 4 4 p15.31 17894560 17895244 - 17429288 17429972 - 17427665 17428349 - 19123937 100270869 ABBA01032605;AC093600;AMYH02008821;NG_010094 RPS7_3_462 pseudo HGNC:36334 INFERRED 2305770 RPS7P4 ribosomal protein S7 pseudogene 4 1 1 1 p31.3 66998726 66999396 - 68708112 68708782 - 68242429 68243099 - 6480464 19123937;20200978;21145461;23443559;24332808 149224 ABBA01074511;AL513284;AMYH02001215;NG_011195 2126497 AFM316vb5 RPS7_1_61 pseudo HGNC:36000 INFERRED 2305410 RPS7P7 ribosomal protein S7 pseudogene 7 4 4 4 p13 42921661 42922279 + 42473792 42474410 + 42471775 42472393 + 19123937 100270870 ABBA01014289;AC084010;AMYH02009108;NG_010101 RPS7_3_472 pseudo HGNC:35690 INFERRED 2305840 RPS7P5 ribosomal protein S7 pseudogene 5 1 1 1 q43 213431357 213432023 + 240170824 240176560 + 240007524 240013260 + 19123937 645884 ABBA01033227;AK098605;AL356361;AMYH02003015;NR_036695 Hs.613280 RPS7_2_183 pseudo HGNC:37037 VALIDATED 2305694 RPS7P8 ribosomal protein S7 pseudogene 8 6 6 6 q16.1 97738422 97739074 - 97096331 97096983 - 96648455 96649107 - 19123937 442237 ABBA01014524;AL355143;AMYH02014160;NG_010648 1706994;1718009 RH122621;SHGC-80997 RPS7_4_725 pseudo HGNC:35710 INFERRED 2305645 RPS7P9 ribosomal protein S7 pseudogene 9 10 10 10 q23.1 76466969 76467635 - 82476224 82476890 - 80716468 80717134 - 19123937 100128756 ABBA01003790;AL732389;AMYH02023424;NG_011267 RPS7_5_1072 pseudo HGNC:36998 INFERRED 1345119 RPS8P1 ribosomal protein S8 pseudogene 1 14 14 14 q32.33 86375157 86375859 - 106444554 106445256 - 105978467 105979169 - 19123937;9841928 192133 AB019441;ABBA01074086;AC246787;NG_001019 RPS8_5_1417 pseudo HGNC:19789 VALIDATED 2305409 RPS8P6 ribosomal protein S8 pseudogene 6 3 3 3 p26.1 295643 296245 - 350400 351002 - 308717 309319 - 19123937 100270871 ABBA01020510;AC026187;AMYH02006132;NG_010107 RPS8_1_339 pseudo HGNC:36947 INFERRED 2304990 RPS8P10 ribosomal protein S8 pseudogene 10 INTERACTS WITH dioxygen 15 15 15 q11.2 88499 89199 - 22440169 22440869 - 22152218 22152918 - 6480464 19123937 388076 AC010760;AMYH02030018;CH878371;NG_011225 EAW50487 RPS8_6_1418 pseudo HGNC:35628 INFERRED 2305670 RPS8P5 ribosomal protein S8 pseudogene 5 3 3 3 p14.3 57529815 57530495 - 57516020 57516700 - 57530293 57530973 - 19123937 100131083 ABBA01024416;AC092418;AMYH02006872;NG_010028 RPS8_2_374 pseudo HGNC:36417 INFERRED 1348940 RPS8P4 ribosomal protein S8 pseudogene 4 10 10 10 q26.11 115128964 115129665 + 121397945 121398646 + 119638433 119639134 + 19123937 646119 ABBA01062891;AC012468;AMYH02023910;CH471066;NG_009795 EAW49384 1688496 RH48160 RPS8_2_1103 pseudo HGNC:17478 INFERRED 2305758 RPS8P7 ribosomal protein S8 pseudogene 7 5 5 5 q35.3 175279306 175279973 - 179653333 179654000 - 180226333 180227000 - 19123937 646093 ABBA01010059;AC104115;AMYH02012903;NG_011062 1688496;2143804 D5S2450;RH48160 RPS8_3_645 pseudo HGNC:35795 INFERRED 1351567 RPS8P3 ribosomal protein S8 pseudogene 3 18 18 18 q21.2 46227418 46228102 - 49371320 49372004 - 51844950 51845634 - 19123937 100132995 ABBA01018693;AC022701;AMYH02034724;NG_010683 2160116 G19292 HsT2707;RPS8_7_1602 pseudo HGNC:31000 INFERRED 2305349 RPS8P8 ribosomal protein S8 pseudogene 8 5 5 5 p13.3 33043852 33044555 + 33162262 33162965 + 33162156 33162859 + 6480464 19123937 728553 ABBA01066751;AC010343;AC022443;AMYH02011136;NG_011203 1683110;2131892 D18S1237;SHGC-2466 RPS8_1_552 pseudo HGNC:36213 INFERRED 2305782 RPS8P9 ribosomal protein S8 pseudogene 9 9 9 9 p13.3 34155775 34156495 - 34223929 34224649 - 34223931 34224651 - 19123937 100130750 ABBA01065016;AL353662;AMYH02019443;NG_010982 RPS8_4_974 pseudo HGNC:35524 INFERRED 1349919 RPS9P1 ribosomal protein S9 pseudogene 1 21 21 21 q22.2 22703560 22704272 + 37504692 37505404 + 36132394 36133106 + 10830953;19123937;9740676 8410 ABBA01057384;AMYH02037775;AP000689;AP001725;NG_003259 1690456;1794250 PMC310876P2;RH79780 RPS9P;RPS9_2_1730 pseudo HGNC:10443 INFERRED 731589 RPS8 ribosomal protein S8 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 1 1 1 p34.1-p32 43524133 43527299 + 45241213 45244427 + 44775574 44778740 + 6480464 11790298;12477932;12588972;12777385;15189156;15303970;15489334;15616584;15635413;15840729;15883184;16196087;1712897;17207965;17220478;17289661;17361185;17620599;18029348;18172692;18214993;18259216;18274552;18457437;18781797;19596686;19738201;19946888;20308691;20462248;20473970;20639865;20811636;21081666;21145461;21182205;21252943;21319273;21371428;21853274;21890473;21906983;21963094;21987572;22053931;22178446;22505724;22623428;22863883;22939629;23000965;23077236;23084401;23125841;23184937;23246001;23398456;23443559;23463506;23862649;24140708;24244333;24332808;24457600;24657165;24816145;25015289;25027693;6188845;8432552;8706699;8722009;8764399;9582194 6202 P62241;Q5JR94;Q5JR95 AB062401;ABBA01050909;AF116700;AK311854;AL592166;AMYH02000918;BC005678;BC022070;BC070875;CH471059;NM_001012;X67247;Z58668;Z61049 AAF71120;AAH05678;AAH70875;ADQ31996;BAB93488;BAG34795;CAA47670;EAX07023;EAX07024;NP_001003;P62241 Hs.512675 1683110;2131892;2182395;7185033 D18S1237;D1S1544;SHGC-2466 S8 40S ribosomal protein S8;OK/SW-cl.83;OTTHUMP00000010160;OTTHUMP00000010161 APPROVED protein-coding ENSG00000142937 HGNC:10441 15969 600357 REVIEWED 1352180 RPS9P2 ribosomal protein S9 pseudogene 2 22 22 22 q13.2 25266387 25267096 + 41460000 41460709 + 41063996 41064705 + 19123937 267009 ABBA01055618;AL080243;AMYH02038426;NG_002404 RPS9_3_1753;bA12M9.1 pseudo HGNC:19428 INFERRED 2305827 RPS9P3 ribosomal protein S9 pseudogene 3 5 5 5 q21.1 94174175 94174815 + 98290073 98290713 + 98954369 98955009 + 19123937 100133054 ABBA01069198;AC022121;AMYH02011847;NG_010983 RPS9_1_598 pseudo HGNC:36635 INFERRED 2304419 RPS9P4 ribosomal protein S9 pseudogene 4 19 19 19 q13.33 47092140 47092851 - 50222683 50223394 - 49719426 49720137 - 19123937;19165232;22118674 388556 ABBA01032913;AC011495;AMYH02036329;NG_009020 2041778 REN91926 RPS9_1_1662 pseudo HGNC:36710 INFERRED 1346846 RPSAP1 ribosomal protein SA pseudogene 1 20 20 20 q13.13 46451451 46452498 - 49747241 49748280 - 51130704 51131743 - 19123937;23459443 170529 ABBA01052792;AL121915;AMYH02037253;NG_001045 LAMR1P;LAMR1P1;RPSA_24_1712;dJ1193N1.1 laminin receptor 1 pseudogene 1 pseudo HGNC:16560 INFERRED 1601682 RPSAP10 ribosomal protein SA pseudogene 10 10 10 10 p12.1 28489034 28490059 + 28725055 28726080 + 28436126 28437151 + 19123937;23251661 401638 ABBA01034376;AC022021;AMYH02022534;NG_009741 1335202;1764839;2166129;7185282 D10S600;G17413;SHGC-148401 LAMR1P10;RPSA_22_1026 pseudo HGNC:31460 INFERRED 1349064 RPSAP11 ribosomal protein SA pseudogene 11 3 3 3 p22.3 32169551 32170577 + 32232163 32233189 + 32190671 32191697 + 1649122;18063583;19123937 645326 ABBA01024946;AC097639;AMYH02006492;NG_006441 LAMR;LAMR1P11;LAMRL1;LAMRP1;RPSA_9_357 pseudo HGNC:6503 INFERRED 1350131 RPSAP12 ribosomal protein SA pseudogene 12 INTERACTS WITH 17beta-estradiol; 5-azacytidine; bucladesine 12 12 12 q15 68610454 68611487 - 68946705 68947738 - 68552925 68553958 - 6480464 1649122;19123937;21145461 387867 ABBA01026558;AC015550;AMYH02026694;NG_010141 LAMR1P12;LAMRL2;LAMRP2;RPSA_18_1254 pseudo HGNC:6504 INFERRED 1347545 RPSAP13 ribosomal protein SA pseudogene 13 14 14 14 q22.3 35520963 35521971 - 55471473 55472481 - 55004755 55005763 - 1649122;19123937 3923 ABBA01018200;AL160471;AMYH02029229;NG_010441 LAMR1P13;LAMRL3;LAMRP3;RPSA_20_1366 pseudo HGNC:6505 INFERRED 734165 RPS9 ribosomal protein S9 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 51746402 51753191 + 54704608 54711515 + 54200827 54207647 + 1580863;6480464 11044901;11751223;11790298;11875025;12477932;12565890;12588972;12777385;14702039;15047060;15189156;15489334;15635413;15883184;17220478;17289661;17353931;17361185;17643375;18420587;18457437;18781797;19167051;19596686;19738201;19834535;19946888;20020773;20221446;20308691;21139048;21145461;21182205;21209461;21252943;21319273;21832049;21890473;21906983;21963094;21987572;21988832;22053931;22118674;22178446;22268729;22505724;22623428;22863883;22939629;23000965;23084401;23125841;23184937;23246001;23285058;23383273;23398456;23443559;23463506;23862649;24250222;24332808;24390425;24657165;24816145;25015289;6188845;7772601;8318536;8706699;8722009;9582194 6203 A8MXK4;B5MCT8;C9JM19;F2Z3C0;P46781 AB007150;AB055775;AB061839;ABBA01068172;AC012314;AC245052;AK095055;BC000802;BC007410;BC007434;BC007857;BC020462;BC050660;BC058892;BC068055;BC071940;BC071941;BC096756;BC096822;BC141920;CH471135;CU151838;CU457734;NM_001013;U14971;XM_005259135;XM_005259136;XM_005277084;XM_005277085;XM_005277274;XM_005277315;XM_005277316;XM_005278287;XM_005278288;XM_006725876;XM_006725877;XM_006725964;XM_006725965;XM_006726063;XM_006726064;XM_006726164;XM_006726165;XM_006726201;XM_006726202;XR_243946;XR_243947;XR_254260;XR_254311;XR_254323;XR_254324;XR_254517;XR_254518;XR_430207;XR_430911;XR_430953;XR_430986;XR_430987;XR_430988;XR_431006;XR_431007;XR_431008;XR_431025;XR_431026;XR_431027;XR_431056;XR_431057;XR_431058;XR_431067;XR_431068;XR_431069;XR_431090;XR_431099 AAA85659;AAH00802;AAH07410;AAH07434;AAH07857;AAH68055;AAH71940;AAH96756;AAI41921;ABM82126;ABM85309;BAA25816;BAB62869;BAB79477;EAW72209;EAW72210;EAW72211;EAW72212;EAW72213;EAW72214;EAW72215;NP_001004;P46781;XP_005259192;XP_005259193;XP_005277141;XP_005277142;XP_005277331;XP_005277372;XP_005277373;XP_005278344;XP_005278345;XP_006725939;XP_006725940;XP_006726027;XP_006726028;XP_006726126;XP_006726127;XP_006726227;XP_006726228;XP_006726264;XP_006726265 Hs.467284;Hs.546288 1804440;1805238;1814684;1816120;1824642;1825670;1825904;1830842;1836918;1839530;1841194;1843914;1847313;2041758;2041760;2041762;2041764;2041766;2041768;2041770;2041772;2041774;2041776;2041778;2041780;2041782;2041784;2041786;2041788;2041790;2041792;2041794;2041796;2041798;2041800;2041802;2041804;2041806;2041808;2041810;2041812;2041814;2041816;2041818;2041820;2041822;2041824;2041826;2041828;2041830;2041832;2041834;2041836;2041838;2041840;2041842;2042078;2042080;2042082;2042084;2042086;2042088;2042090;2042094;2103690;2103692;2103694;2103696;2103698;2103700;2103702;2103758;5015879 ECD03144;ECD03563;ECD08372;ECD09100;ECD13419;ECD13943;ECD14060;ECD16557;ECD19623;ECD20947;ECD21792;ECD23168;GDB:314949;REN91916;REN91917;REN91918;REN91919;REN91920;REN91921;REN91922;REN91923;REN91924;REN91925;REN91926;REN91927;REN91928;REN91929;REN91930;REN91931;REN91932;REN91933;REN91934;REN91935;REN91936;REN91937;REN91938;REN91939;REN91940;REN91941;REN91942;REN91943;REN91944;REN91945;REN91946;REN91947;REN91948;REN91949;REN91950;REN91951;REN91952;REN91953;REN91954;REN91955;REN91956;REN91957;REN91958;REN92078;REN92079;REN92080;REN92081;REN92082;REN92083;REN92084;REN92086;RP_S9;stSG605868;stSG605869;stSG605870;stSG605871;stSG605872;stSG605873;stSG605874;stSG605908 S9 40S ribosomal protein S9;OTTHUMP00000069577;OTTHUMP00000069584;OTTHUMP00000069585;OTTHUMP00000194980;OTTHUMP00000197717;OTTHUMP00000197718;OTTHUMP00000197719;OTTHUMP00000206570 APPROVED protein-coding ENSG00000170889 HGNC:10442 04696 603631 REVIEWED 1344977 RPSAP14 ribosomal protein SA pseudogene 14 X X X q13.2 73534775 73535153 + 73251296 73251674 + 74031461 74031839 + 1649122;8401491 3924 ABBA01059613;AL139400;AMYH02039774;L15458;NG_004075 LAMR1P14;LAMRL4;LAMRP4 laminin receptor 1 pseudogene 14 pseudo HGNC:6506 INFERRED 2305408 RPSAP16 ribosomal protein SA pseudogene 16 1 1 1 q24.2 153045265 153046251 + 179937730 179938716 + 179968595 179969581 + 19123937 100270872 ABBA01027804;AL353708;AMYH02002238;NG_010115 RPSA_1_135 pseudo HGNC:35478 INFERRED 1354419 RPSAP15 ribosomal protein SA pseudogene 15 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate X X X q21.31 87196901 87197933 - 86958273 86959306 - 87703273 87704306 - 1580863;6480464 11499681;18160415;18729074;19123937;21139048;21145461;21906983;23862649;9461426 220885 Q96RS2 ABBA01051921;AF284768;AMYH02039916;NG_011100;Z83818 AAK69721 Hs.496451 5017164 D3S3955 LAMR1P15;LAMRL5;RPSA_25_1791 pseudo ENSG00000237506 HGNC:31464 INFERRED 2305407 RPSAP17 ribosomal protein SA pseudogene 17 1 1 1 q21 127422309 127423352 - 154350602 154351645 - 154378126 154379169 - 19123937 100270873 ABBA01049482;AL162591;AMYH02001921;NG_010120 RPSA_3_103 pseudo HGNC:35707 INFERRED 2304374 RPSAP18 ribosomal protein SA pseudogene 18 1 1 1 q23.2 133304823 133305857 - 160236059 160237093 - 160266269 160267303 - 19123937 388707 ABBA01016613;AL139011;AL513282;AMYH02002024;NG_010515;NG_034154 RPSA_4_107 pseudo HGNC:36106 INFERRED 2305756 RPSAP19 ribosomal protein SA pseudogene 19 INTERACTS WITH zinc atom; zinc(0) 1 1 1 p21.1 100515474 100516506 - 102251822 102252854 - 101786266 101787298 - 6480464 19123937;21139048;21906983 730029 ABBA01045423;AC104334;AL359760;AMYH02001572;BX648992;CH471121;NG_007325 EAW53202 Hs.567943 5017164 D3S3955 DKFZp686O1684;RPSA_2_81 pseudo HGNC:36508 INFERRED 1348591 RPSAP2 ribosomal protein SA pseudogene 2 6 6 6 p22.1 30306102 30307139 + 28699716 28700751 + 28731939 28732974 + 19123937 442181 ABBA01038025;AL390196;AL662890;AL671879;AMYH02013399;BX088523;NG_009790 LAMR1P2;RPSA_15_672;bA60E24.1 pseudo HGNC:18771 INFERRED 1344885 RPSA ribosomal protein SA Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p22.2 39389788 39395643 + 39448204 39454033 + 39406713 39412542 + 6480464;8699517;8554872 10079194;10477615;10683318;11054877;11067943;11720479;11752855;11790298;12386810;12440778;12477932;12588972;12875970;14614142;14702039;14730304;15047060;15158907;15189156;15231747;15246873;1534510;15489334;15492215;15516338;15592455;15635413;15922307;16130169;16169070;16189514;16236267;16263087;16263121;16344560;16431845;16759641;16889749;16973587;17361185;17535553;18061925;18079119;18172692;18269348;18276110;18425431;18624398;18781797;18787295;18794547;18816836;19123465;19182490;19188445;19224861;19446013;19471022;19561400;19596686;19691449;19738201;19946888;19961413;20020773;20085233;20101459;20491781;20515747;20849852;21040730;21044950;21055809;21056082;21081666;21110914;21145461;21167900;21182205;21243100;21391874;21693764;21838916;21890473;21895963;21906983;21942715;21963094;21988832;22053931;22174317;22290616;22505724;22586326;22623428;22640394;22666419;22751010;22814251;22863883;22909348;22939629;23000965;23151878;23246001;23348740;23472084;23579497;23588894;23729238;23824909;23862649;23990477;23991217;2429301;24342618;24416454;24457600;24583282;24657165;24703465;24816145;25015289;25027693;2543954;2970639;2970671;8586453;8706699;8760291;8985115;9218732;9582194;9732225 3921 C9J9K3;F8WD59;P08865 AB007146;ABBA01024804;AC099332;AF503367;AJ572067;AK055991;AMYH02006588;AMYH02006589;BC005391;BC008867;BC010054;BC010418;BC013827;BC018867;BC034537;BC050688;BC053370;BC062714;BC066941;BC068062;BC070263;BC071693;BC071968;BC071969;BC071970;BC073863;BC107567;BT007219;BU932677;CH471055;J03799;M14199;NG_033234;NM_001012321;NM_002295;S37431;U36484;U43901;X15005;X61156 AAA36161;AAA36165;AAB22299;AAC50313;AAC50652;AAH05391;AAH08867;AAH10418;AAH13827;AAH34537;AAH50688;AAH53370;AAH62714;AAH66941;AAH68062;AAH70263;AAH71693;AAH71968;AAH71969;AAH71970;AAH73863;AAI07568;AAM33304;AAP35883;ABM82072;ABM85252;BAA25812;CAA33112;CAA43469;EAW64582;EAW64583;EAW64584;EAW64585;EAW64586;EAW64587;NP_001012321;NP_002286;P08865 Hs.449909 1688997;1721767;1731475;2090434;2090436;2157756;5017164;5491354;7184876;7185930;7204137;7204139 D11S813E;D3S3955;G59752;REN116494;REN116495;RH92628;RP_SA_1;UniSTS:148286 37LRP;67LR;ICAS;LAMBR;LAMR1;LBP;LBP/p40;LRP;LRP/LR;NEM/1CHD4;SA;lamR;p40 37 kDa laminin receptor;37/67 kDa laminin receptor;40S ribosomal protein SA;67 kDa laminin receptor;67kD, ribosomal protein SA;OTTHUMP00000161970;OTTHUMP00000209609;OTTHUMP00000209610;colon carcinoma laminin-binding protein;laminin binding protein;laminin receptor 1 (67kD, ribosomal protein SA);laminin-binding protein precursor p40;multidrug resistance-associated protein MGr1-Ag APPROVED protein-coding ENSG00000168028 HGNC:6502 01038 150370;271400 REVIEWED 2304739 RPSAP21 ribosomal protein SA pseudogene 21 1 1 1 q43 210232028 210233066 + 236982856 236983890 + 236819556 236820590 + 19123937 729079 ABBA01033175;AL359185;AMYH02002974;NG_009605 RPSA_2_180 pseudo HGNC:36928 INFERRED 2305406 RPSAP22 ribosomal protein SA pseudogene 22 2 2 2 p12 85546230 85547085 - 85718048 85718903 - 85490925 85491780 - 19123937 100270874 ABBA01075751;AC016753;AMYH02004184;NG_010126 RPSA_5_248 pseudo HGNC:36435 INFERRED 2305859 RPSAP20 ribosomal protein SA pseudogene 20 1 1 1 p32.2 54962085 54963147 - 56673139 56674164 - 56207467 56208492 - 19123937 127406 ABBA01074688;AL353681;AMYH02001076;NG_010906 RPSA_1_53 pseudo HGNC:35595 INFERRED 2305852 RPSAP24 ribosomal protein SA pseudogene 24 2 2 2 q31.1 168521175 168522196 + 174907661 174908682 + 174042933 174043954 + 19123937 391462 ABBA01062183;AC016737;AMYH02005266;NG_010206 RPSA_6_295 pseudo HGNC:36362 INFERRED 2305405 RPSAP23 ribosomal protein SA pseudogene 23 2 2 2 q14.1 109547382 109548350 + 116225561 116226529 + 115467985 115468953 + 19123937 100270875 ABBA01045965;AC017040;AMYH02004616;NG_010135 RPSA_5_268 pseudo HGNC:36742 INFERRED 2305858 RPSAP25 ribosomal protein SA pseudogene 25 2 2 2 q31.1 170715943 170716978 + 177106763 177107798 + 176242035 176243070 + 19123937 129841 ABBA01062220;AC016739;AMYH02005298;NG_010261 1757635 SHGC-145557 RPSA_7_299 pseudo HGNC:36405 INFERRED 2304494 RPSAP26 ribosomal protein SA pseudogene 26 2 2 2 p15 62218178 62219207 + 62373432 62374461 + 62146297 62147326 + 19123937 729209 ABBA01075380;AC018462;AMYH02003940;NG_010627 2170679 SHGC-30949 RPSA_3_227 pseudo HGNC:36195 INFERRED 2305636 RPSAP27 ribosomal protein SA pseudogene 27 2 2 2 q34 202840693 202841700 + 209072783 209073790 + 208208059 208209066 + 19123937 130429 ABBA01062705;AC016697;AMYH02005659;NG_010650 1341398 D17S1816 RPSA_8_320 pseudo HGNC:36650 INFERRED 2305889 RPSAP28 ribosomal protein SA pseudogene 28 INTERACTS WITH 17beta-estradiol; 5-azacytidine; bucladesine 2 2 2 p13.1 73447922 73448934 + 73597079 73598091 + 73369951 73370963 + 6480464 19123937 391387 ABBA01075580;AC074008;AMYH02004072;NG_011134 RPSA_4_242 pseudo HGNC:35612 INFERRED 2305820 RPSAP29 ribosomal protein SA pseudogene 29 3 3 3 q13.13 108800546 108801567 - 110401063 110402084 - 110682216 110683237 - 19123937 389141 ABBA01061677;AC119737;AMYH02007426;NG_010100 RPSA_6_392 pseudo HGNC:36680 INFERRED 1352096 RPSAP3 ribosomal protein SA pseudogene 3 INTERACTS WITH 17beta-estradiol; 5-azacytidine; bucladesine 14 14 14 q24.3 57139720 57140766 - 77101048 77102083 - 76634705 76635740 - 6480464 19123937 158674 ABBA01030675;AC008050;AMYH02029552;NG_002489 LAMR1P3;RPSA_21_1392 laminin receptor 1 pseudogene 3 pseudo HGNC:19792 INFERRED 2305813 RPSAP31 ribosomal protein SA pseudogene 31 INTERACTS WITH 17beta-estradiol; 5-azacytidine; bucladesine 3 3 3 q27.1 182048631 182049646 + 183605310 183606325 + 183887522 183888537 + 6480464 19123937 391598 ABBA01058468;AC068644;AMYH02008298;NG_010907 RPSA_11_442 pseudo HGNC:35558 INFERRED 8552174 RPSAP32 ribosomal protein SA pseudogene 32 3 3 3 p26.3 604780 605348 - 659472 660040 - 617789 618357 - 402123 ABBA01020508;AC087431;AMYH02006136;NG_006138 pseudo HGNC:50310 INFERRED 2305575 RPSAP30 ribosomal protein SA pseudogene 30 3 3 3 q29 195304324 195314168 - 196717463 196727294 - 196990592 197000423 - 19123937 728126 ABBA01033761;AC011322;AC068302;AMYH02008507;NG_010326 RPSA_7_452 pseudo HGNC:35861 INFERRED 2305111 RPSAP33 ribosomal protein SA pseudogene 33 3 3 3 q26.2 166782865 166783477 + 168384347 168384959 + 168666559 168667171 + 19123937 647158 ABBA01058721;AC112911;AMYH02008092;NG_011277 RPSA_10_433 pseudo HGNC:35556 INFERRED 2305404 RPSAP34 ribosomal protein SA pseudogene 34 4 4 4 q25 106623860 106624582 - 109328995 109329717 - 108407839 108408561 - 19123937 100270876 ABBA01063760;AC005510;AMYH02009883;NG_010142 RPSA_8_506 pseudo HGNC:36643 INFERRED 2305605 RPSAP36 ribosomal protein SA pseudogene 36 4 4 4 q31.21 141676058 141677065 + 144346129 144347137 + 143424976 143425984 + 19123937 100128888 ABBA01070001;AC104685;AMYH02010235;NG_010623 2169519 SHGC-59721 RPSA_14_525 pseudo HGNC:35727 INFERRED 2305313 RPSAP37 ribosomal protein SA pseudogene 37 5 5 5 q23.2 121259103 121259867 - 125302431 125303195 - 125966738 125967502 - 19123937 100270915 ABBA01068908;AC026723;AMYH02012133;NG_010356 RPSA_10_610 pseudo HGNC:35844 INFERRED 2305829 RPSAP38 ribosomal protein SA pseudogene 38 5 5 5 p13.1 41839709 41840283 - 41951415 41951989 - 41951313 41951887 - 19123937 100130676 ABBA01024237;AC010408;AMYH02011222;NG_010603 RPSA_9_557 pseudo HGNC:35963 INFERRED 2305641 RPSAP39 ribosomal protein SA pseudogene 39 4 4 4 q21.21 78375703 78376731 + 81082207 81083235 + 80161053 80162081 + 19123937 100131161 ABBA01063400;AC097711;AMYH02009564;NG_010466 RPSA_12_495 pseudo HGNC:37040 INFERRED 1344780 RPSAP4 ribosomal protein SA pseudogene 4 14 14 14 q32.13 75248653 75249686 + 95192549 95193582 + 94726212 94727245 + 15014966;19123937 145259 ABBA01030410;AL049839;AMYH02029785;NG_002486 LAMR1P4;RPSA_27_1403 laminin receptor 1 pseudogene 4 pseudo HGNC:20018 INFERRED 2305311 RPSAP40 ribosomal protein SA pseudogene 40 6 6 q25.1 148968760 148969807 - 148647624 148648671 - 19123937 100270917 ABBA01025696;AL807246;AMYH02014681;NG_010364 RPSA_13_766 pseudo HGNC:36828 INFERRED 2305310 RPSAP41 ribosomal protein SA pseudogene 41 6 6 6 q13 74394669 74395534 + 74000126 74000991 + 73290403 73291268 + 19123937 100270918 ABBA01040310;AC019205;AMYH02013906;NG_010368 1820570;1831840;1843228;1922858;1922860;1922862;1922864;1922866;1922868;1922870;1922872;1922874;1922876;1922878;2207124;2207126 ECD11360;ECD17058;ECD22822;REN32253;REN32254;REN32255;REN32256;REN32257;REN32258;REN32259;REN32260;REN32261;REN32262;REN32263;stSG625787;stSG625788 RPSA_17_711 pseudo HGNC:36663 INFERRED 2305309 RPSAP42 ribosomal protein SA pseudogene 42 6 6 6 q23.3 139056531 139057408 + 138316407 138317284 + 137995270 137996147 + 19123937 100270919 ABBA01025815;AL591397;AMYH02014572;NG_010380 RPSA_18_761 pseudo HGNC:36265 INFERRED 2305658 RPSAP43 ribosomal protein SA pseudogene 43 6 6 6 q21 115146772 115147365 - 114405363 114405956 - 114084199 114084792 - 19123937 643954 ABBA01026061;AL355498;AMYH02014333;NG_010589 RPSA_12_742 pseudo HGNC:35501 INFERRED 2305348 RPSAP45 ribosomal protein SA pseudogene 45 6 6 6 q21 113418236 113419277 - 112676954 112677956 - 112355752 112356754 - 19123937 728562 ABBA01026077;AL365214;AMYH02014311;NG_011251 RPSA_11_739 pseudo HGNC:35857 INFERRED 2304389 RPSAP46 ribosomal protein SA pseudogene 46 7 7 7 q22.1 95856040 95857011 - 100846881 100847852 - 101203600 101204571 - 19123937 652624 ABBA01011343;AC004876;AMYH02016403;NG_010431 2109675;2165896 A002S06;PLOD3_8880 RPSA_14_827 pseudo HGNC:36082 INFERRED 2304496 RPSAP44 ribosomal protein SA pseudogene 44 6 6 6 p12.1 56151242 56152238 + 54489325 54490321 + 54624527 54625523 + 19123937 652411 ABBA01050515;AL136306;AMYH02013756;NG_010638 RPSA_16_706 pseudo HGNC:36891 INFERRED 2305630 RPSAP47 ribosomal protein SA pseudogene 47 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPSA gene, there is no convincing evidence of transcription. It is thus being annotated as a pseudogene.[provided by RefSeq, Feb 2009] 8 8 8 q21.13 77475991 77477024 + 81471029 81472062 + 80558794 80559827 + 11181995;19123937;21507922;22493691 389672 ABBA01004061;AC009812;AC009871;AMYH02018306;CH471068;NG_010220 EAW87080;EAW87081 RPSA_19_921 APPROVED pseudo HGNC:36162 INFERRED 2305557 RPSAP48 ribosomal protein SA pseudogene 48 8 8 8 q23.2 107304911 107305798 - 111117305 111118193 - 110105076 110105964 - 19123937 392262 ABBA01037719;AC018608;AMYH02018609;NG_010379 RPSA_15_943 pseudo HGNC:36646 INFERRED 2305664 RPSAP49 ribosomal protein SA pseudogene 49 9 9 9 q22.1 61515526 61516555 + 90939296 90940325 + 88324381 88325410 + 19123937 401537 ABBA01016512;AL158076;AMYH02021175;NG_010669 RPSA_21_995 pseudo HGNC:35660 INFERRED 2305592 RPSAP50 ribosomal protein SA pseudogene 50 11 11 11 q22.3 107007377 107007990 + 109853124 109853737 + 109982398 109983011 + 19123937 644109 ABBA01039843;AMYH02025565;AP001981;NG_010040 RPSA_24_1172 pseudo HGNC:35896 INFERRED 1348252 RPSAP5 ribosomal protein SA pseudogene 5 14 14 14 q32.32 83894493 83895530 - 103840300 103841329 - 103373963 103374992 - 19123937 319129 ABBA01048430;AL133367;AMYH02029922;NG_002507 LAMR1P5;RPSA_22_1412 laminin receptor 1 pseudogene 5 pseudo HGNC:20139 INFERRED 2304903 RPSAP51 ribosomal protein SA pseudogene 51 12 12 12 p13.31 10432652 10433269 + 8895054 8895671 + 8742458 8743075 + 19123937 100271267 ABBA01012247;AC092490;AMYH02025994;NG_010852 RPSA_25_1205 pseudo HGNC:36224 INFERRED 2304869 RPSAP53 ribosomal protein SA pseudogene 53 13 13 13 q21.32 48742538 48743563 - 67840887 67841912 - 67266755 67267780 - 19123937 400141 ABBA01050288;AL603863;AMYH02028201;NG_010038 RPSA_19_1317 pseudo HGNC:36641 INFERRED 2304745 RPSAP54 ribosomal protein SA pseudogene 54 13 13 13 q12.11 2597303 2598337 + 21535373 21536407 + 20961234 20962268 + 19123937 642641 ABBA01068595;AL356285;AMYH02027650;NG_011364 RPSA_26_1300 pseudo HGNC:36373 INFERRED 2305922 RPSAP52 ribosomal protein SA pseudogene 52 INTERACTS WITH dasatinib (anhydrous) 12 12 12 q14.3 65817416 65886360 - 66151800 66220754 - 65758020 65826974 - 6480464 12477932;19123937;20581827;20932310;2543954 204010 ABBA01026580;AC107308;AC135891;AMYH02026674;BC058822;BC107865;KF459783;KF459785;NR_026825 Hs.558686 2133524;2166251;5123321 D12S1491;D12S1504;D12S1515 MGC104447;RPSA_17_1251 pseudo ENSG00000241749 HGNC:35752 VALIDATED 2304873 RPSAP55 ribosomal protein SA pseudogene 55 15 15 15 q21.3 30072816 30073839 + 53177716 53178739 + 52885519 52886542 + 19123937;21145461;23251661 388122 ABBA01039052;AC016044;AMYH02030455;NG_010133 RPSA_28_1433 pseudo HGNC:36921 INFERRED 2305911 RPSAP56 ribosomal protein SA pseudogene 56 INTERACTS WITH zinc atom; zinc(0) 16 16 16 q22.3 58287857 58288892 - 73974466 73975501 - 73940567 73941602 - 6480464 19123937 645656 ABBA01005305;AC092128;AMYH02032370;NG_011353 RPSA_23_1496 pseudo HGNC:36018 INFERRED 2305312 RPSAP35 ribosomal protein SA pseudogene 35 4 4 4 q26 115626679 115627498 + 118334618 118335437 + 117413462 117414281 + 19123937 100270916 ABBA01063868;AC113617;AMYH02009981;NG_010360 1807778;1867934;1867936;1867938;1867940;1867942;1867944;1867946;1867948;1867950;1867952;1867954;1867956;1867958;1867960;2198264;2198266 ECD04863;REN4634;REN4635;REN4636;REN4637;REN4638;REN4639;REN4640;REN4641;REN4642;REN4643;REN4644;REN4645;REN4646;REN4647;stSG618181;stSG618182 RPSA_13_513 pseudo HGNC:36447 INFERRED 2304505 RPSAP57 ribosomal protein SA pseudogene 57 18 18 18 q21.2 49129717 49130381 + 52411904 52412887 + 54744673 54745656 + 19123937 390857 ABBA01056104;AC007673;AC100776;AMYH02034764;NG_011042 RPSA_29_1604 pseudo HGNC:35889 INFERRED 2305044 RPSAP59 ribosomal protein SA pseudogene 59 X X X q22.1-q22.3 102899948 102900838 - 102460937 102461827 - 103206009 103206899 - 19123937 100271148 ABBA01021022;AL035494;AMYH02040168;NG_010239 RPSA_27_1799 pseudo HGNC:36957 INFERRED 1349946 RPSAP6 ribosomal protein SA pseudogene 6 10 10 10 q22.2 69417181 69418218 + 76131211 76132244 + 74371453 74372486 + 19123937 414254 ABBA01020284;AC022026;AMYH02023348;NG_009794;NG_030484 LAMR1P6;RPSA_23_1065 pseudo HGNC:31458 INFERRED 2305043 RPSAP60 ribosomal protein SA pseudogene 60 X X X q28 151459228 151460254 - 151213716 151214742 - 152045244 152046270 - 19123937 100271149 ABBA01037281;AF274856;AMYH02040783;NG_010242 RPSA_28_1820 pseudo HGNC:36331 INFERRED 2305474 RPSAP61 ribosomal protein SA pseudogene 61 X X X p11.3 48737049 48738078 + 44600251 44601280 + 44741005 44742034 + 19123937 644464 ABBA01046323;AL031311;AMYH02039243;NG_010579 RPSA_31_1776 pseudo HGNC:36760 INFERRED 1601794 RPSAP58 ribosomal protein SA pseudogene 58 ENCODES a protein that exhibits laminin binding (inferred); laminin receptor activity (inferred); structural constituent of ribosome (inferred); INVOLVED IN cell adhesion (inferred); translation (inferred); FOUND IN nucleus (inferred); plasma membrane (inferred); small ribosomal subunit (inferred); INTERACTS WITH all-trans-retinoic acid; 1-naphthyl isothiocyanate (ortholog); 2,4,6-trinitrotoluene (ortholog) 19 19 19 p12 180 3287 + 23945816 24010937 + 23763014 23828135 + 6480464 12477932;16751776;19123937;21906983 388524 A6NE09;C9JQR9 ABBA01051444;ABBA01051445;ABBA01051446;AC139769;AMYH02035843;AMYH02035844;AMYH02035845;AMYH02035846;AMYH02035847;BC071971;CH471106;DQ585311;KF454885;KF454888;KF454894;KF459808;KF459809;KF459810;KF459811;KF459812;KF459813;KF459814;KF459815;KF459817;KF459818;KF459819;KF459820;KF459822;KF459823;KF459824;KF459825;KF459826;KF459827;KF459829;KF459830;KF459832;KF459833;KF495803;KF495804;KF495805;KF495806;KF495824;KF495993;NR_003662 EAW84950;EAW84951;EAW84952 Hs.560655 1644521;1685151;5017164 D3S3955;G18061;RH68576 RPSA_30_1642 ribosomal protein SA pseudogene;similar to laminin receptor 1 pseudo ENSG00000205246 HGNC:36809 14203 VALIDATED 6481558 RPSAP64 ribosomal protein SA pseudogene 64 21 21 40266838 40267119 + 38894914 38895195 + 100873797 ABBA01011089;AMYH02037820;AP001043;NG_032334 pseudo HGNC:39642 INFERRED 2305488 RPSAP63 ribosomal protein SA pseudogene 63 X X X q26.2 133283538 133284571 + 132896747 132897780 + 133762720 133763753 + 19123937 100270755 ABBA01042366;AL009174;AMYH02040520;NG_009640 RPSA_33_1813 pseudo HGNC:35581 INFERRED 2305530 RPSAP62 ribosomal protein SA pseudogene 62 X X X p11.22 57181461 57182152 + 53352224 53352915 + 53323027 53323718 + 19123937 100131469 ABBA01056405;AC245102;AL161779;AMYH02039463;NG_010739;NG_021296 1336131;1342115 AFM123xd4;DXS988 RPSA_32_1778 pseudo HGNC:35583 INFERRED 2291765 RPSAP7 ribosomal protein SA pseudogene 7 10 10 10 p13 14693042 14694074 - 14765098 14766130 - 14723099 14724131 - 19123937 654506 ABBA01034607;AC069544;AMYH02022201;NG_007324 LAMR1P7;RPSA_16_1024 pseudo HGNC:31461 INFERRED 2292092 RPSAP8 ribosomal protein SA pseudogene 8 X X X q22.1 99931282 99932319 - 99410811 99411848 - 100155813 100156850 - 19123937 643617 ABBA01064203;AL359641;AMYH02040052;NG_007295 LAMR1P8;RPSA_26_1797 pseudo HGNC:31462 INFERRED 1347679 RPSAP9 ribosomal protein SA pseudogene 9 9 9 9 q21.13 49588241 49589680 + 79013515 79014954 + 76398599 76400038 + 16344560;19123937;21546767 653162 ABBA01033907;AL391868;AMYH02021022;DB348177;NR_026890 Hs.655646 1724593 RH121293 LAMR1P9;RPSA_20_986 pseudo ENSG00000234618 HGNC:31463 VALIDATED 1605586 RPTN repetin ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cornified envelope (inferred); proteinaceous extracellular matrix (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; nickel atom; trichostatin A 1 1 1 q21.3 125240750 125246385 - 152126071 152131704 - 152153595 152159228 - 6480464;8554872 12477932;14702039;15854042;18187620;19615732 126638 Q6XPR3;Q8N1M7 ABBA01049410;ABBA01049411;AK096436;AL589986;AMYH02001891;AY219924;AY396742;BC112216;BC112218;CH471121;NM_001122965 AAI12217;AAI12219;AAP48705;AAR91620;BAC04789;EAW53388;NP_001116437;Q6XPR3 Hs.376144 2220558 UniSTS:485324 FLJ39117 OTTHUMP00000205060;intermediate filament-associated protein protein-coding ENSG00000215853 HGNC:26809 613259 VALIDATED 1343031 RPUSD2 RNA pseudouridylate synthase domain containing 2 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN pseudouridine synthesis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cisplatin; copper(2+) sulfate; formaldehyde 15 15 15 q13.3 17629431 17634555 + 40861503 40866666 + 40569293 40574706 + 737633;6480464;8554872 12477932 14702039;16344560;17474147;21832049;22863883;24816145 27079 Q8IZ73 ABBA01038445;AC091045;AK055971;AK293145;AK301383;AK301706;AMYH02030243;BC007697;BC016967;CH471125;DA746074;NM_001286407;NM_152260;U67934 AAB07777;AAH07697;AAH16967;BAB71059;BAG56692;BAG62923;BAG63178;EAW92428;NP_001273336;NP_689473;Q8IZ73 Hs.173311 2110289;2164848;2166069 A004W35;C150rf19_4479;D15S1189 C15orf19;C18B11;FLJ31409 C18B11 homolog (44.9kD);OTTHUMP00000160504;RNA pseudouridylate synthase domain-containing protein 2 protein-coding ENSG00000166133 HGNC:24180 12668 VALIDATED 1344939 RPUSD1 RNA pseudouridylate synthase domain containing 1 ENCODES a protein that exhibits pseudouridine synthase activity (inferred); RNA binding (inferred); INVOLVED IN pseudouridine synthesis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; cadmium atom; disodium selenite 16 16 16 p13.3 1034861 1038270 - 834974 838383 - 784974 788383 - 6480464;8554872 11157797;12477932;16341674;21906983;21963094;21988832;22053931;23000965;24250222 113000 H3BMZ6;H3BQN8;H3BRG3;H3BS55;H3BSG4;H3BU91;H3BUN6;H3BVD0;Q9UJJ7 ABBA01030345;AE006465;AL031033;AMYH02031208;BC011783;BC012951;BC036279;BG686882;BM763460;CB529100;CH471112;NM_058192 AAH11783;AAH12951;AAK61255;ABM83844;ABM87166;EAW85712;EAW85713;EAW85714;EAW85715;NP_478072;Q9UJJ7 Hs.101742 2138517 RH77995 C16orf40;MGC19600;RLUCL OTTHUMP00000045508;RNA pseudouridylate synthase domain-containing protein 1;ribosomal large subunit pseudouridine synthase C like;ribosomal large subunit pseudouridine synthase C-like protein protein-coding ENSG00000007376 HGNC:14173 08507 VALIDATED 1345355 RPUSD4 RNA pseudouridylate synthase domain containing 4 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN pseudouridine synthesis (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; methyl methanesulfonate; potassium chromate 11 11 11 q24.2 123237291 123246895 - 126071989 126081587 - 126202094 126211692 - 6480464 12477932;14702039;16344560;17577209;20445134;20877624;22939629;24250222;24654937;24816145;8125298;8889548 84881 B4DUN4;E9PJV3;Q96CM3 ABBA01031229;AK027400;AK225320;AK300723;AK308059;AMYH02025744;AP001893;BC014131;BE260782;BU679173;CH471065;DB051034;DB542764;NM_001144827;NM_032795 AAH14131;BAB55086;BAG62396;EAW67675;EAW67676;NP_001138299;NP_116184;Q96CM3 Hs.150458 1298323;1662722;1672288;2121225;5123792;7186273 D11S2236E;D11S934;EST189193;RH48157;SHGC-33429 FLJ14494 OTTHUMP00000231045;OTTHUMP00000231046;RNA pseudouridylate synthase domain-containing protein 4 protein-coding ENSG00000165526 HGNC:25898 07862 VALIDATED 1350224 RRAGAP1 Ras-related GTP binding A pseudogene 1 14 14 14 25219016 25219511 - 45357761 45358256 - 44888558 44889053 - 12508121 100462776 ABBA01018043;AL049870;AMYH02029100;NG_027270 1707696 SHGC-82021 RRAGAP APPROVED pseudo HGNC:20242 INFERRED 736416 RRAD Ras-related associated with diabetes ENCODES a protein that exhibits calmodulin binding (inferred); GTP binding (inferred); GTPase activity (inferred); INVOLVED IN GTP catabolic process (inferred); signal transduction (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Diabetes Mellitus, Type 2; Heart Failure; Insulin Resistance; FOUND IN intracellular (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 16 16 16 q22 51463841 51467698 - 66955582 66959439 - 66921679 66925536 - 1580863;2311703;2311705;2311702;2311701;2311704;6480464 10024077;15161552;16537411;17525370;18056528 10359610;10441394;10611312;11280768;12477932;15342556;15489334;16511212;16866878;17195088;17672918;20079427;20460530;21988832;22487779;22658652;23973784;24222170;7859947;7876254;8248782;8557685;8781531;8798502;8889549;9115241;9677319 6236 J3KRG9;J3KSM6;P55042 ABBA01025423;AC009084;AK290613;AMYH02032220;BC011645;BC057815;BP257026;CH471092;L24564;N93445;NM_001128850;NM_004165;U46165 AAA36540;AAB17064;AAH11645;AAH57815;ABM82877;ABM86063;BAF83302;EAW83053;EAW83054;EAW83055;NP_001122322;NP_004156;P55042 Hs.1027 1684349;1687890;1729798;2219656 D16S324;RH80345;RH80791;RRAD__5528 RAD;RAD1;REM3 GTP-binding protein RAD;OTTHUMP00000174805;RAS (RAD and GEM) like GTP binding 3;ras associated with diabetes protein-coding ENSG00000166592 HGNC:10446 01536 179503 VALIDATED 1349440 RRAGA Ras-related GTP binding A ENCODES a protein that exhibits GTP binding; phosphoprotein binding; protein heterodimerization activity; INVOLVED IN cell death; cellular protein localization; cellular response to amino acid stimulus; PARTICIPATES IN mTOR signaling pathway; FOUND IN cytoplasm; Golgi apparatus; intracellular membrane-bounded organelle; INTERACTS WITH (+)-catechin; all-trans-retinoic acid; cadmium atom 9 9 9 p22.1 18975567 18977218 + 19049372 19051023 + 19049374 19051025 + 633888;2308795;6480464;6484113 19339977;7499430 11073942;12477932;14660641;14749727;15164053;15489334;16189514;17897319;18029348;18497260;18685082;19136632;21816923;21890473;21981924;23000965;23125841;23151878;23184942;24337580;8995684;9394008 10670 Q7L523 ABBA01065222;AK313023;AL356000;AMYH02019256;BC006433;BC009990;BX346838;BX442654;CH471071;NM_006570;U41654;X90529 AAB63255;AAH06433;AAH09990;BAG35858;CAA62131;EAW58653;NP_006561;Q7L523 Hs.743260 2142445;2172736;2172738 A001X42;D9S1030E;G19763 FIP-1;FIP1;RAGA;rag A OTTHUMP00000021099;adenovirus E3 14.7 kDa-interacting protein 1;adenovirus E3-14.7K interacting protein 1;ras-related GTP-binding protein A protein-coding ENSG00000155876 HGNC:16963 10205 612194 VALIDATED 1323384 RRAGC Ras-related GTP binding C This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 1 1 1 p34 37583632 37603970 - 39303869 39325495 - 38838197 38859823 - 2308795;6480464;6484113 19339977 11073942;11145883;12477932;14660641;14702039;15489334;16189514;16710414;16712791;16713569;17914555;18497260;21139048;21816923;21890473;21981924;21988832;22424946;23000965;23184942;23911927;24095279;24337580;8619474;9110174 64121 B4DQ03;B4DQG4;Q9HB90 ABBA01023239;ABBA01023240;AF131773;AF272035;AF323609;AK023373;AK298573;AK298788;AK315791;AL139260;AMYH02000820;AW327252;BC016668;BG717489;BI461665;BQ003663;CA449149;CB132041;CH471059;CX761032;ES308561;HY202961;HY264464;NM_001271851;NM_022157 AAG32662;AAG45221;AAH16668;ABM82660;ABM85837;BAB14548;BAG60765;BAG60926;EAX07293;EAX07294;NP_001258780;NP_071440;Q9HB90 Hs.532461 1657031;1672458;1680679;1730131;1768529;1854781;2133875 D1S261E;G29137;RH50026;RH80711;SGC38299;SHGC-74629;SHGC-74630 FLJ13311;GTR2;RAGC;TIB929 GTPase-interacting protein 2;OTTHUMP00000000548;Rag C protein;ras-related GTP-binding protein C APPROVED protein-coding ENSG00000116954 HGNC:19902 12198 608267 REVIEWED 1603019 RPTOR regulatory associated protein of MTOR, complex 1 This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 17 q25.3 75147295 75567674 + 78518625 78940173 + 80544825 80966373 + 1625616;2308795;2307383;6480464;6484113;6907045;8554872 16885148;17110594;19339977 10718198;12150925;12150926;12408816;12477932;12604610;12665511;12718876;12719976;12747827;12912989;14702039;15066126;15268862;15302935;15459249;15467718;15489334;15718470;15755954;15767663;15809305;15854902;16183647;16286006;16354680;16603397;16631613;16798736;16824195;16837165;16847060;16914728;16919458;16959881;16962653;16964243;17043309;17081983;17329400;17386266;17461779;17502379;17565979;17656678;17897319;17991864;18030348;18235224;18337751;18439900;18497260;18505677;18519641;18570873;18722121;18776922;19139211;19145465;19211835;19388141;19446321;19561084;19619545;19724909;19864431;19875983;19921495;20169205;20354165;20379614;20427287;20439490;20562859;21045808;21060808;21071439;21139048;21177249;21283628;21321085;21325048;21339740;21454807;21460630;21471201;21613227;21816923;21890473;21900751;21903422;21906983;21963094;21981924;22258093;22328503;22356909;22424946;22493283;22544753;22797925;23049088;23184942;23297343;23423739;23524951;23541542;23563607;23898069;23911927;24337580;24403073;24462769 57521 I3L2I3;I3L436;Q6DKI0;Q8N122 AB037724;AB082951;ABBA01032115;ABBA01032116;ABBA01032117;ABBA01032118;ABBA01032119;ABBA01032120;ABBA01032121;ABBA01032122;AC016245;AC109327;AC127496;AC133012;AI821182;AK055912;AK295964;AK296321;AMYH02034109;AMYH02034110;AMYH02034111;AMYH02034112;AMYH02034113;AMYH02034114;AMYH02034115;AMYH02034116;AMYH02034117;AY090663;BC014502;BC025180;BC033258;BC033699;BC041079;BC064515;BC073898;BC136652;BC136654;BF111734;CH471099;GQ183898;KC877680;NG_013034;NM_001163034;NM_020761 AAH25180;AAH33258;AAH64515;AAH73898;AAI36653;AAI36655;AAM09075;ACS44766;BAA92541;BAC06490;BAG58742;BAH12314;EAW89618;EAW89619;NP_001156506;NP_065812;Q8N122 Hs.133044 1734518;1758235;1783504;1783550;1798074;2119413;2135894;2169335;5093082;5094752 A005R46;A009F31;AAT095;D17S1457E;G32509;RAPTOR_2116;RH65537;SHGC-145979;SHGC-147765;SHGC-154405 KIAA1303;KOG1;Mip1 p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats;raptor;regulatory-associated protein of mTOR APPROVED protein-coding ENSG00000141564 HGNC:30287 06184 607130 REVIEWED 1351633 RPUSD3 RNA pseudouridylate synthase domain containing 3 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN pseudouridine synthesis (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; 5-aza-2'-deoxycytidine 3 3 3 p25.3 9814834 9821003 - 9879533 9885702 - 9837849 9844018 - 737633;6480464 12477932 14702039;16751776;17207965;20186120;21890473;24250222 285367 A8K773;C9JM75;H7C0K7;H7C0K9;H7C0R9;H7C1H7;H7C2C3;H7C454;Q6P087 ABBA01020398;AC018809;AK092026;AK093620;AK094587;AK291888;AK296202;AK299556;AMYH02006237;BC032135;BC049846;BC062362;BC065741;CH471055;NM_001142547;NM_173659 AAH32135;AAH62362;AAH65741;ADQ32221;BAC03794;BAF84577;BAG61501;BAH12281;EAW64006;EAW64007;EAW64008;EAW64009;NP_001136019;NP_775930;Q6P087 Hs.33719 1735198;2135505;5016478;5020881;5020885;5022450;5022578;5024039;5037552;5109625 D10S275;D16S325;D1S1423;D3S2844E;D3S2918E;D8S2279;GDB:434012;L17709;L17791;SHGC-30425 FLJ34707;FLJ37268;MGC29784 OTTHUMP00000158556;OTTHUMP00000207563;OTTHUMP00000207566;OTTHUMP00000207567;OTTHUMP00000207568;RNA pseudouridylate synthase domain-containing protein 3 protein-coding ENSG00000156990 HGNC:28437 14532 VALIDATED 1343212 RRAGB Ras-related GTP binding B Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] X X X p11.21 59582631 59623721 + 55744110 55785766 + 55717677 55759333 + 633888;2308795;6480464;6484113 19339977;7499430 11073942;12477932;12766061;15489334;15772651;16344560;17897319;18029348;18187620;18497260;21139048;21832049;21890473;21981924;22424946;22749528;22863883;23000965;24337580;9394008 10325 Q5VZM0;Q5VZM2 ABBA01069495;ABBA01069496;ABBA01069497;ABBA01069498;ABBA01069499;AK289407;AL139277;AL159987;AL831926;AMYH02039517;BC034726;BX641797;CD676755;CH471154;DB246060;DB252202;NM_006064;NM_016656;X90530;XM_005261973;XM_005261974;XM_005261975;XR_244464;XR_244465;XR_430513 AAH34726;ACE86507;ACE87188;BAF82096;CAA62132;CAD38586;EAW93227;EAW93228;EAW93229;NP_006055;NP_057740;Q5VZM2;XP_005262030;XP_005262031;XP_005262032 Hs.50282 1683960;2185162 DXS7036E;RH91912 RAGB;bA465E19.1;rag B GTP-binding protein ragB;OTTHUMP00000023402;OTTHUMP00000023403;ras-related GTP-binding protein B APPROVED protein-coding ENSG00000083750 HGNC:19901 06710 300725 VALIDATED 1321899 RRAS2 related RAS viral (r-ras) oncogene homolog 2 This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 11 11 11 p15.2 14424875 14511140 - 14299466 14386052 - 14277920 14364506 - 6480464;6907045;8554872 10064593;10224125;10498616;10557073;10777492;10783161;11335720;11788587;11850823;11857081;12384139;12477932;12620389;15031288;15308774;15342556;15451670;15489334;15761153;16169070;16210410;17081983;17656362;18628988;19047159;19056867;19060904;19460752;19561613;19692568;20360068;20811707;2108320;21085126;21139048;21319273;21781067;21988832;23000965;23398456;23535033;24148564;8052619 22800 E9PK85;E9PQ87;E9PQC5;E9PQK5;P62070 AA873016;ABBA01061108;ABBA01061109;ABBA01061110;ABBA01061111;AC011084;AF493924;AK299606;AK300103;AK302033;AK309550;AK309683;AK313976;AMYH02024352;BC013106;BG428983;BP206021;BP206589;BQ020351;BQ023701;BX324335;CB961515;CH471064;DC368033;M31468;NG_017058;NM_001102669;NM_001177314;NM_001177315;NM_012250 AAA36545;AAH13106;AAM12638;BAG36690;BAH13078;BAH13210;BAH13612;EAW68486;EAW68487;NP_001096139;NP_001170785;NP_001170786;NP_036382;P62070 Hs.502004;Hs.712835 1678779;1775871;5113996 D11S1068;RH40056;RH80353 TC21 OTTHUMP00000230870;OTTHUMP00000230871;OTTHUMP00000230872;OTTHUMP00000230873;OTTHUMP00000230874;OTTHUMP00000230875;OTTHUMP00000230876;ras-like protein TC21;ras-related protein R-Ras2;teratocarcinoma oncogene APPROVED protein-coding ENSG00000133818 HGNC:17271 02518 600098 REVIEWED 1319017 RRH retinal pigment epithelium-derived rhodopsin homolog Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. [provided by RefSeq, Jul 2008] 4 4 4 q25 108042720 108059581 + 110749150 110765863 + 109827994 109844707 + 1580863;6480464 11329013;12477932;12542842;15761153;17167409;18240029;20332099;9275222 10692 O14718 ABBA01063785;AC126283;AF012270;AMYH02009902;BC128120;BC128121;BC128401;BG189259;BK000958;CH471057;NM_006583 AAC51757;AAI28121;AAI28122;AAI28402;DAA00976;EAX06255;NP_006574;O14718 Hs.658310 OTTHUMP00000162923;peropsin;visual pigment-like receptor peropsin APPROVED protein-coding ENSG00000180245 HGNC:10450 05565 605224 REVIEWED 1322982 RQCD1 RCD1 required for cell differentiation1 homolog (S. pombe) This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012] 2 2 2 q35 213201461 213226753 + 219433303 219461158 + 218568580 218596435 + 1580863;6480464;8554872 12356739;12477932;15209511;16778766;17452450;17643375;18180299;18377426;19322201;19558367;19724902;19946888;20360068;20878056;21139048;21890473;22939629;23383273;24768538;24768540;24816145;9447985 9125 D5MQE1;F8WBZ6;F8WCV7;H7C0W0;Q92600 AA806815;AB500892;ABBA01023865;ABBA01023866;AC012510;AK293281;AK296037;AK316567;AMYH02005797;AMYH02005798;AMYH02005799;BC007102;BC137455;BC137456;CH471063;D87957;DC299874;NM_001271634;NM_001271635;NM_005444;NR_073390;XM_005246942;XM_005246943;XM_006712832 AAH07102;AAI37456;AAI37457;BAA13508;BAG38156;BAG58803;BAH11481;BAJ07307;EAW70624;EAW70625;NP_001258563;NP_001258564;NP_005435;Q92600;XP_005246999;XP_005247000;XP_006712895 Hs.148767 1681692;1698798;2131425;2143066;2143925 D2S2903;RH102962;RH45666;RH69436;RH93385 CNOT9;CT129;RCD-1;RCD1;RCD1+ CCR4-NOT transcription complex subunit 9;OTTHUMP00000206597;OTTHUMP00000206598;cancer/testis antigen 129;cell differentiation protein RCD1 homolog;protein involved in sexual development;rcd1 (required for cell differentiation, S.pombe) homolog 1 protein-coding ENSG00000144580 HGNC:10445 08828 612054 REVIEWED 1322078 RREB1 ras responsive element binding protein 1 The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] 6 6 6 p25 8337583 8481974 + 7107830 7252213 + 7107597 7251980 + 1580863;6480464;8554872 10390538;12477932;12482979;12700664;12700765;14702039;15067362;15302935;15342556;16140033;17000644;17550981;17967884;18394891;18854154;19056867;19471022;19558368;19802870;19890057;20379614;20385826;20884846;21159816;21258344;21613827;21693764;21703425;21792086;21833088;21890473;22427155;22581228;22589738;22751122;23263486;23752268;23966867;24348900;8816445;9305772;9367691 6239 C9JE09;C9JPJ6;C9JU34;Q92766 AB019254;AB019351;AB019352;ABBA01022038;ABBA01022039;AF072825;AF072826;AK022160;AK022442;AL139095;AL355336;AL589644;AMYH02013057;AMYH02013058;AW505424;BC032062;BC042910;BC111386;BC131599;BI818966;BP365591;BX647723;CH471087;D49835;HM369360;HM369361;NG_016201;NM_001003698;NM_001003699;NM_001003700;NM_001168344;U26914;XM_005249272;XM_005249275;XM_005249276;XM_006715156;XM_006715157;XM_006715158;XM_006715159;XM_006715160;XM_006715161 AAB19094;AAC25598;AAC26118;AAH42910;AAI31600;AAI72432;ADO14468;ADO14469;BAA23165;BAD32776;BAD32778;BAD32779;EAW55198;EAW55199;EAW55200;NP_001003698;NP_001003699;NP_001003700;NP_001161816;Q92766;XP_005249329;XP_005249332;XP_005249333;XP_006715219;XP_006715220;XP_006715221;XP_006715222;XP_006715223;XP_006715224 Hs.298248 1647439;1662670;1690031;1709170;1723309;1753409;1770000;1772671;1849459;2122697;2128684;2137749;2139926;2219658;5014051;5022578;5118576 D11S3430;D1S1423;D8S2278;G09345;RH118470;RH18374;RH36382;RH45575;RH45965;RH46451;RH70160;RH92849;RREB1__5529;SHGC-107226;SHGC-52573;SHGC-85747;STS-N62538 FINB;HNT;LZ321;RREB-1;Zep-1 DNA-binding protein;OTTHUMP00000015997;OTTHUMP00000213899;OTTHUMP00000213900;OTTHUMP00000213901;OTTHUMP00000213909;finger protein in nuclear bodies;hindsight homolog;raf-responsive zinc finger protein LZ321;ras-responsive element-binding protein 1;zinc finger motif enhancer binding protein 1;zinc finger motif enhancer-binding protein 1;zinc finger motif-enhancer binding-protein 1 APPROVED protein-coding ENSG00000124782 HGNC:10449 03733 602209 REVIEWED 1322910 RRAS related RAS viral (r-ras) oncogene homolog ENCODES a protein that exhibits GDP binding; GTPase activity; protein complex binding; INVOLVED IN face morphogenesis; GTP catabolic process; leukocyte differentiation; PARTICIPATES IN ephrin - ephrin receptor bidirectional signaling axis; mitogen activated protein kinase signaling pathway; FOUND IN extracellular vesicular exosome; focal adhesion; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 19 19 19 q13.33 47007883 47012731 - 50138552 50143400 - 49635295 49640143 - 1580863;6480464;6484113;6907045 10224125;10412982;10570155;10671570;10713701;10777492;10848612;11042683;11560935;11857081;12386818;12477932;12529399;12548599;12620389;12890755;15031288;15242332;15297673;15489334;15525681;16537651;16754664;16773572;16914723;17107957;17163575;17474147;17664272;18624398;19011236;19056867;19116136;19805522;19843518;20385769;20585650;21139048;21390152;21660952;21674799;21906983;21987572;21988832;22897853;23000965;23209424;3098437;7761092;7809086;8232588 6237 P10301 ABBA01032914;AC011495;AF493920;AMYH02036324;BC016286;BC016318;BT006805;CH471177;CR541944;CR541967;M14949;NM_006270 AAA60256;AAH16286;AAH16318;AAM12634;AAP35451;ABM81656;ABM83354;ABM86568;CAG46742;CAG46765;EAW52506;EAW52507;NP_006261;P10301 Hs.515536 1741677;1789472;2161262 G31122;G68143;GDB:181916 p23 Oncogene RRAS;ras-related protein R-Ras protein-coding ENSG00000126458 HGNC:10447 01299 165090 PROVISIONAL 1344712 RRM2P1 ribonucleotide reductase M2 polypeptide pseudogene 1 6243 HGNC:10453 1346940 RRM2P2 ribonucleotide reductase M2 polypeptide pseudogene 2 1 1 1 q23.3 134413721 134416290 - 161346591 161349160 - 161376801 161379370 - 3311968 6244 ABBA01016590;AC243898;AL592295;NG_012978 pseudo HGNC:10454 INFERRED 1346765 RRM2P3 ribonucleotide reductase M2 polypeptide pseudogene 3 X X X p11.4 48308327 48309486 - 44166616 44169782 - 44307370 44310536 - 3311968 100420159 ABBA01046387;ABBA01046388;AL133344;AMYH02039236;NG_021391;NG_026678 1770855;2109783 DXS8197;RRM2_8603 pseudo HGNC:10455 INFERRED 1320660 RRAGD Ras-related GTP binding D RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004] 6 6 6 q15-q16 90492855 90540521 - 90074335 90121995 - 89364616 89412276 - 1580863;2308795;6480464;6484113;8554872 19339977 11073942;12477932;14574404;14660641;14702039;15489334;15900300;18497260;20379614;21890473;22424946;23000965;24095279;24337580 58528 Q9NQL2 ABBA01040530;AF272036;AJ420486;AK126164;AK289799;AL137502;AL138717;AL523999;AMYH02014082;AMYH02014083;BC003088;CH471051;DB472739;NM_021244;XM_005248755 AAG32663;AAH03088;ADZ15704;BAF82488;CAB70775;EAW48554;NP_067067;Q9NQL2;XP_005248812 Hs.31712 1644918;1647484;1647906;1671420;1730016;1776419;1779608;1849123;2157236;2160087 AFM185xd10;D6S2099;D6S247;G27951;RH15841;RH17546;RH46740;SHGC-153580;SHGC-32424;WI-15526 DKFZp761H171;FLJ44176;RAGD;bA11D8.2.1 OTTHUMP00000016853;OTTHUMP00000016854;Rag D protein;ras-related GTP-binding protein D APPROVED protein-coding ENSG00000025039 HGNC:19903 12199 608268 VALIDATED 1349541 RRM2P4 ribonucleotide reductase M2 polypeptide pseudogene 4 X X X q27 143713511 143714076 - 143392258 143392823 + 144309133 144309698 + 3311968 6246 ABBA01016574;AC234064;AL049588;AMYH02040700;NG_000871 pseudo HGNC:10456 INFERRED 737409 RRM1 ribonucleotide reductase M1 This gene encodes one of two non-identical subunits that constitute ribonucleoside-diphosphate reductase, an enzyme essential for the production of deoxyribonucleotides prior to DNA synthesis in S phase of dividing cells. It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 4120880 4164701 + 4115791 4160116 + 4094694 4138876 + 1580863;2316863;5133692;6480464;6907045;8554872 15224347;15725396 10441745;11517226;11781084;12477932;12578384;12615712;12687015;12789263;14583450;14702039;14729598;15172981;15277258;15324660;15342556;15489334;16169070;1627826;16376858;16476973;16481328;1677928;16966686;17064812;17065054;17131328;17486094;17602053;1840662;18414411;18483375;18494946;18636187;18781797;19002265;19304340;19543324;19552012;20021860;20028759;20043067;20159953;20211060;20226083;20453000;20467918;20587610;20627363;20811706;20819778;20868593;21139048;21145461;21220199;21264835;21319273;21336276;21370501;21382349;21394302;21424698;21628579;21642870;21890473;21906983;21963094;21987572;22053931;22134350;22268729;22505724;22632967;22705007;22863883;22939629;23000965;23086647;23155271;23166591;23249808;23401439;23519412;23552804;23922955;23948418;23982437;23991987;24024897;24045016;24155212;24215511;24266856;24361227;24434653;24614341;25027693;3044582;3275546;3891388;7557993;8125298;8188248;8386696;9933563 6240 E9PJ62;E9PL69;E9PP77;E9PRY9;H0YCY7;P23921 ABBA01032035;ABBA01032036;ABBA01032037;ABBA01032038;ABBA01032039;ABBA01032040;AC015689;AF107045;AF391285;AK222786;AK297988;AK299629;AK301891;AK301922;AK303394;AK307950;AK311593;AMYH02024236;AMYH02024237;BC006498;BP229960;BQ775841;CH471158;L10342;NG_027992;NM_001033;X59543;X59617;X65708 AAD37491;AAH06498;ABM83954;ABM87271;BAD96506;BAG60296;BAG61557;BAG63322;BAG63343;BAG64450;CAA42118;CAA42180;EAX02583;NP_001024;P23921 Hs.445705 1651175;1687944;1742541;2119309;2190923;5021222 GDB:197861;MARC_11583-11584:1002656974:1;RH35854;RH80019;RRMI;STS-X59617 R1;RIR1;RR1 OTTHUMP00000164513;OTTHUMP00000229275;ribonucleoside-diphosphate reductase large subunit;ribonucleoside-diphosphate reductase subunit M1;ribonucleotide reductase M1 polypeptide;ribonucleotide reductase large subunit;ribonucleotide reductase, R1 subunit;ribonucleotide reductase, large subunit APPROVED protein-coding ENSG00000167325 HGNC:10451 01588 180410 REVIEWED 1315209 RRBP1 ribosome binding protein 1 This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012] 20 20 20 p12 17668815 17737434 - 17594323 17662934 - 17613678 17682283 - 1580863;6480464;6907045 10718198;11780052;12168954;12477932;14702039;15184079;15231748;15302935;15489334;16196087;16210410;16964243;17081983;17353931;17634287;18029348;18083570;19037105;19425502;19596686;19932094;20020773;20360068;20647306;21111237;21145461;21565611;21628590;2165568;21906983;22108332;22679391;22939629;22963397;23000965;23318453;23443559;23874603;24019514;24583282;24639526;24816145;8812507;9628588 6238 A2A2S5;F8W7S5;Q9P2E9;V9GY78 AB037819;AB287347;ABBA01054025;ABBA01054026;ABBA01054027;AF006751;AF007575;AK093465;AK098319;AK309197;AL132765;AL833822;AMYH02036768;BC000099;BC009700;BC020482;BC080526;BC108741;BC128577;BC128578;CH471133;KF456852;NM_001042576;NM_004587 AAC25977;AAC25978;AAH00099;AAH09700;AAI08742;AAI28578;AAI28579;BAA92636;BAF73807;BAG52723;CAD38684;EAX10273;NP_001036041;NP_004578;Q9P2E9 Hs.472213 2169840;2178656;5092756;5127121 A005W17;A005Z23;G18116;G32309 DKFZp586A1420;ES/130;ES130;FLJ36146;MGC157720;MGC157721;RRp;hES 180 kDa ribosome receptor homolog;ES/130-related protein;OTTHUMP00000030333;OTTHUMP00000162761;ribosome binding protein 1 homolog 180kDa (dog);ribosome receptor protein;ribosome-binding protein 1 APPROVED protein-coding ENSG00000125844 HGNC:10448 11796 601418 REVIEWED 736125 RRM2 ribonucleotide reductase M2 This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009] 2 2 2 p25-p24 10178748 10187595 + 10262695 10271546 + 10122568 10131419 + 1580863;2324950;2324953;5133688;5133696;6480464;6907045 15942940;19568409;21139803;21556566 10631117;11517226;11781084;11978967;11978970;12477932;12615712;12655059;12694192;14583450;14661056;14702039;14729598;15096505;15489334;15815621;1627826;16344560;16376858;16964243;17222798;17486094;18278438;18330356;18414411;18820369;18941749;19002265;19082948;19250552;19322201;19416980;19639316;20056645;20155784;20159953;20484015;20587610;20825972;20927319;21139048;21166702;21628579;21844567;21873171;21875941;21890473;21906983;21963094;21965764;22166006;22190034;22505724;22569992;22632967;22670179;22797925;22884145;22939629;23002339;23249808;23335963;23466567;23519412;23535732;23719266;24024897;24082141;24155212;24253041;24360663;24423925;24816145;3311968;7937751;9990288 6241 C9JXC1;P31350 ABBA01015604;ABBA01015605;AC104794;AC118058;AF149206;AK092671;AK123010;AK313719;AMYH02003265;AY032750;BC001886;BC028932;BC030154;BM994533;DA477511;NM_001034;NM_001165931;S40301;X59618 AAA09577;AAD53261;AAH01886;AAH28932;AAH30154;AAK51163;AAX93099;ABM82789;ABM85978;BAG36462;BAG52588;BAG53847;CAA42181;NP_001025;NP_001159403;P31350 Hs.226390 1648346;1770855;2109783;2138583;2143205;2182374;5020948;5037552;5037554 D2S2640;D8S2279;D8S2282;DXS8197;G35510;NIB797;RH48834;RH70847;RRM2_8603 R2;RR2;RR2M OTTHUMP00000115511;OTTHUMP00000214026;OTTHUMP00000220215;ribonucleoside-diphosphate reductase subunit M2;ribonucleotide reductase M2 polypeptide;ribonucleotide reductase small chain;ribonucleotide reductase small subunit APPROVED protein-coding ENSG00000171848 HGNC:10452 01587 180390 REVIEWED 1625094 RRN3P1 RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; lead(0) 16 16 16 p12.2 16151801 16176647 + 21807951 21830495 - 21796630 21819174 - 6480464 12477932;15146197;8619474;9110174 730092 Q2M238 ABBA01005462;ABBA01005463;ABBA01143956;AC092375;AC241409;AF001549;AF054994;AK126166;AK291749;AK309501;AL702574;BC006441;BC009198;BC068999;BC070157;BC112115;BC112117;BC143685;BX101439;CN397262;NR_003370 AAC27822;BAF84438;BAG54291;Q2M238 Hs.31290;Hs.348979 2167774;5112209 RH102369;RH65913 FLJ77916;FLJ99542;MGC138320;MGC138322 APPROVED pseudo HGNC:30548 14301 VALIDATED 1603041 RRNAD1 ribosomal RNA adenine dimethylase domain containing 1 ENCODES a protein that exhibits rRNA (adenine-N6,N6-)-dimethyltransferase activity (inferred); INVOLVED IN rRNA methylation (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH methyl methanesulfonate; quercetin; valproic acid 1 1 1 q23.1 129769065 129777984 + 156698263 156706752 + 156728471 156736960 + 6480464 10810093;12477932;19204726;19322201;24097068;310876 51093 E5RHI7;E5RI42;E5RIL6;E5RJL6;H0YBL9;Q96FB5 ABBA01016647;ABBA01016648;ABBA01016649;AF151800;AK000412;AL590666;AMYH02001978;AMYH02001979;BC011382;BX094595;CH471121;NM_001142560;NM_015997;XM_005245234;XM_005245235;XM_005245236;XM_005245237;XR_426777;XR_426778 AAD34037;AAH11382;EAW52915;EAW52916;EAW52917;EAW52918;NP_001136032;NP_057081;Q96FB5;XP_005245291;XP_005245292;XP_005245293;XP_005245294 Hs.512597 1681175;1688604 RH64929;RH72 C1orf66;CGI-41 OTTHUMP00000038735;OTTHUMP00000071089;hypothetical protein LOC51093;ribosomal RNA adenine dimethylase domain-containing protein 1 APPROVED protein-coding ENSG00000143303 HGNC:24273 10824 VALIDATED 1605116 RRP1 ribosomal RNA processing 1 The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30315012 30329580 + 45209418 45223983 + 43789537 43804102 + 6480464 10341208;10830953;11790298;12209604;12429849;12477932;15489334;16344560;16780588;18029348;19204726;21139048;21536856;21906983;21963094;22586326;22751105;22990118;23398456;24250222;24457600;24816145;8125298;9192856 8568 D6RE82;P56182 ABBA01074138;ABBA01074139;ABBA01074140;ABBA01074141;AI634547;AK223185;AK223215;AK303000;AK313116;AL137757;AMYH02037899;AP001053;AP001752;AY033999;BC000380;BC014787;BG829556;BI223794;CH471079;DA275615;KC877910;NM_003683;U79775 AAC51625;AAH00380;AAH14787;AAK57542;ABM82317;ABM85493;BAA95542;BAD96905;BAD96935;BAG64135;CAB70909;EAX09470;EAX09471;EAX09472;NP_003674;P56182 Hs.110757 1659148;1762533;2119124;5037552 D8S2279;SHGC-146344;SHGC-53211;SHGC-87679 D21S2056E;NNP-1;NOP52;RRP1A Nnp1 homolog, nucleolar protein;OTTHUMP00000109463;RRP1-like protein;novel nuclear protein 1;nucleolar protein Nop52;ribosomal RNA processing 1 homolog;ribosomal RNA processing protein 1 homolog A APPROVED protein-coding HGNC:18785 10857 610653 REVIEWED 1314438 RRM2B ribonucleotide reductase M2 B (TP53 inducible) This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] 8 8 8 q23.1 99401627 99436245 - 103216729 103251346 - 102204501 102239118 - 1580863;6480464;6907045;7240710;8554872;8699517 10716435;10980602;11517226;11719458;12477932;12565178;12615712;14583450;14702039;14729598;15489334;15856024;16127747;16236544;16376858;16407418;16778101;16846634;16872707;17486094;17671702;18029348;18474260;18504129;18505925;18760875;19015526;19082948;19138848;19664747;19667227;19728742;20159953;20484015;20819778;21139048;21216934;21297166;21378381;21451941;21640705;21646632;21906983;21963094;21965764;22847445;22884950;22895183;22902076;22954457;23139867;23277564;23552804;24214128;24215511;24250222;24741716;24816145 50484 E5RG52;H0YAV1;Q7LG56 AB036063;AB036532;AB163437;AB163438;AB166669;AB166670;AB166671;ABBA01037602;AK001965;AK023605;AK304354;AL137348;AMYH02018526;AP001328;AP002907;BC042468;BC042948;BC108261;BC117496;BC130628;BX509409;CH471060;CR627376;DC308409;DQ027001;KC877294;NG_016617;NM_001172477;NM_001172478;NM_015713 AAH42468;AAI08262;AAI17497;AAI30629;AAY29059;ACE86549;ACE87230;ADR82944;BAA92005;BAA92434;BAA92493;BAD11774;BAD11775;BAD12265;BAD12266;BAD12267;BAG65196;CAB70703;CAH10473;EAW91840;EAW91841;EAW91842;NP_001165948;NP_001165949;NP_056528;Q7LG56 Hs.512592 DKFZp686M05248;MGC102856;MGC42116;MTDPS8A;MTDPS8B;p53R2 OTTHUMP00000227449;OTTHUMP00000227450;OTTHUMP00000227522;TP53-inducible ribonucleotide reductase M2 B;p53-inducible ribonucleotide reductase small subunit 2 homolog;p53-inducible ribonucleotide reductase small subunit 2 short form beta;p53-inducible ribonucleotide reductase small subunit 2-like protein;ribonucleoside-diphosphate reductase subunit M2 B APPROVED protein-coding ENSG00000048392 HGNC:17296 05276 604712;612075;613077 REVIEWED 1343951 RRP12 ribosomal RNA processing 12 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2,3,7,8-tetrachlorodibenzodioxine 10 10 10 q24.1 92854620 92899285 - 99116458 99161127 - 97356701 97401370 - 737633;6480464;8554872 12477932 11790298;12421765;12429849;14702039;15164054;15302935;15489334;15635413;16344560;16385451;16565220;16964243;17081983;17353931;19471022;20360068;20379614;21139048;21145461;21182205;21906983;21963094;21987572;22113938;22178446;22586326;22751105;22939629;23383273;23752268;24457600;24639526;24778252;24816145;9734811 23223 B3KMR5;F5H456;Q5JTH9 AB014590;ABBA01021804;ABBA01021805;ABBA01021806;ABBA01021807;AK000238;AK021460;AK022496;AK056614;AK131283;AK296315;AL355490;AL832924;AMYH02023606;AMYH02023607;BC002621;BC012745;BC042908;CH471066;DA227012;DC417040;NM_001145114;NM_001284337;NM_015179 AAH02621;AAH12745;BAA31665;BAG51077;BAG51764;BAG54759;BAG59012;CAH10606;EAW49946;EAW49947;EAW49948;NP_001138586;NP_001271266;NP_055994;Q5JTH9 Hs.434251 1764937;5024761 RH36905;SHGC-148492 DKFZp762P1116;FLJ20231;KIAA0690 OTTHUMP00000020207;OTTHUMP00000020208;RRP12-like protein protein-coding ENSG00000052749 HGNC:29100 11103 VALIDATED 1347637 RRN3 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) ENCODES a protein that exhibits RNA polymerase binding (inferred); INVOLVED IN cell proliferation (inferred); cytoplasm organization (inferred); gene expression (inferred); PARTICIPATES IN mTOR signaling pathway; FOUND IN nucleolus; nucleus; INTERACTS WITH copper(2+) sulfate; crocidolite asbestos; methyl methanesulfonate 16 16 16 p12 16150521 16184795 + 15153879 15188168 - 15060022 15094311 - 6480464;6484113 10758157;11250903;11265758;12393749;12477932;12620228;12646563;15004009;15489334;15558034;18029348;18047649;18559419;19214185;19322201;19615732;21906983;21940764;21963094;22797925;22939629;23393135;24297901;8125298;8889548 54700 F5H148;H3BMT1;Q9NYV6 ABBA01012610;AC139256;AC243651;AF227156;AJ272050;AK225662;AK295486;AK300253;AK302994;AK303405;AK304856;AK314769;AK316520;AL110238;BC036182;BC071868;BC104660;BC132688;BC132690;BU676519;CH471301;CK906270;DA764092;DC376629;NM_001301064;NM_018427;XM_005255375;XM_005255376;XM_005255377;XM_006725197;XM_006725198;XM_006725199 AAF66160;AAH71868;AAI04661;AAI32689;AAI32691;ADR83091;BAG37307;BAG58409;BAG62018;BAG64131;BAG64459;BAG65594;BAH14891;CAC07955;EAW54754;NP_001287993;NP_060897;Q9NYV6;XP_005255432;XP_005255433;XP_005255434;XP_006725260;XP_006725261;XP_006725262 Hs.460078;Hs.720348 5112319 RH103343 A-270G1.2;DKFZp566E104;MGC104238;TIF-IA OTTHUMP00000160284;RNA polymerase I-specific transcription initiation factor RRN3;TIFIA;rrn3 rna polymerase i transcription factor homolog (yeast);transcription initiation factor IA;transcription initiation factor TIF-IA protein-coding ENSG00000085721 HGNC:30346 12004 605121 VALIDATED 1313777 RRP1B ribosomal RNA processing 1B ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN negative regulation of phosphatase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol; nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; benzo[a]pyrene 21 21 21 q22.3 30185262 30221795 + 45079432 45115960 + 43659551 43696079 + 1580863;6480464;8554872 10637318;11790298;12429849;12477932;14702039;15174051;15231747;15489334;15635413;16565220;16780588;16964243;17081983;18029348;18081427;19322201;19389623;19471022;19596686;19710015;19825179;20040599;20379614;20926688;21139048;21145461;21182205;21890473;21906983;21907836;22113938;22178446;22552340;22586326;23080069;23443559;23455922;23537643;23602568;24260471;24457600;24778252;24816145;8724849 23076 Q14684;Q6PJM8 ABBA01074131;ABBA01074132;AK056263;AK124620;AMYH02037897;AP001050;AP001051;AP001052;BC014005;BC028386;BE544027;BX479134;CH471079;D80001;NM_015056 AAH14005;AAH28386;BAA11496;EAX09480;EAX09481;EAX09482;EAX09483;NP_055871;Q14684 Hs.565725 1645287;1645925;1657094;1670227;1686482;1707098;1852105;1857782;2118323;2135683;2137990 D21S1871;D21S1875;D21S1995;G34564;G34629;RH25394;SHGC-51780;SHGC-51981;SHGC-52104;SHGC-7009;SHGC-81310 KIAA0179;NNP1L;Nnp1;PPP1R136;RRP1 OTTHUMP00000109457;RRP1-like protein B;ribosomal RNA processing 1 homolog B;ribosomal RNA processing protein 1 homolog B APPROVED protein-coding ENSG00000160208 HGNC:23818 10009 610654 VALIDATED 2800575 RRN3P3 RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 INTERACTS WITH aflatoxin B1; cyclosporin A; quercetin 16 16 16 p12.2 21210751 21217573 - 22430867 22449036 - 22419546 22437715 - 6480464 12477932;14702039;21906983 100131998 ABBA01003839;ABBA01003840;AC092338;AC106788;AC241410;AK055742;BC037959;NR_027460 Hs.709576 1703702;2167638;5112319 RH103343;SHGC-64110;SHGC-78863 pseudo HGNC:37620 PROVISIONAL 2302835 RRP7B ribosomal RNA processing 7 homolog B (S. cerevisiae) INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; cobalt dichloride 22 22 22 q13.2 26879735 26888504 - 42969250 42978017 - 42573244 42582011 - 6480464 12477932;14702039;16303743;24816145 91695 Q9NSQ0 ABBA01017933;AK074492;AK098201;AL157851;AMYH02038463;BC007736;BC014647;BC053540;BC143340;KF457472;NR_002184;Z93241 BAG51960;CAB75937;Q9NSQ0 Hs.534041 1658905;1667147;1680240;1682750;1689099;1701746;2130459;2138816;2152048;2219688;5037552 D22S1560;D22S965E;D8S2279;G19963;RH10763;RH28567;SERHL__5382;STS-T78900;WI-13406;WI-14068;WIAF-2172 dJ222E13.2 pseudo ENSG00000182841 HGNC:30454 PROVISIONAL 1606298 RRP15 ribosomal RNA processing 15 homolog (S. cerevisiae) This gene encodes a protein that co-purifies with human nucleoli. A similar protein in budding yeast is a component of pre-60S ribosomal particles, and is required for the early maturation steps of the 60S subunit. [provided by RefSeq, Jul 2008] 1 1 1 q41 191675091 191727786 + 218458629 218511325 + 218285287 218337983 + 6480464;8554872 10810093;11790298;12477932;15302935;15489334;15769876;17353931;18029348;19471022;19615732;21145461;21693764;21832049;21890473;21906983;23000965;23142642;23602568;24654937;24816145;9455484 51018 Q9Y3B9 AB007976;ABBA01048105;ABBA01048106;AC096638;AC099337;AF151873;AK290066;AMYH02002715;AMYH02002716;AW029169;BC003668;BC020641;BF242786;CH471100;NM_016052 AAD34110;AAH03668;AAH20641;BAF82755;EAW93329;NP_057136;Q9Y3B9 Hs.660109 1699306;1707966;1760089;1856585;5015619;5015879;5022200 D11S3114;GDB:314949;L18426;RH103239;SHGC-107734;SHGC-57308;SHGC-84647 CGI-115;KIAA0507;MGC22291 OTTHUMP00000037485;RRP15-like protein;ribosomal RNA-processing protein 15 APPROVED protein-coding ENSG00000067533 HGNC:24255 10822 611193 REVIEWED 1603685 RRP8 ribosomal RNA processing 8, methyltransferase, homolog (yeast) ENCODES a protein that exhibits methylated histone binding; poly(A) RNA binding; INVOLVED IN cellular response to glucose starvation; chromatin silencing at rDNA; intrinsic apoptotic signaling pathway by p53 class mediator; FOUND IN chromatin silencing complex; cytoplasm; nucleolus; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; disodium selenite 11 11 11 p15.4 6740219 6743878 - 6621144 6624884 - 6599914 6603650 - 6480464 11790298;12429849;12477932;15489334;16565220;16964243;17081983;18029348;18485871;19615732;19819226;22586326;23897426;24457600;9455477 23378 E9PPP6;E9PPY3;E9PS87;O43159 AB007869;ABBA01028670;AC009796;AC091564;AMYH02024271;BC001071;BX417992;CH471064;D87060;NG_029702;NM_015324;R51624 AAH01071;ADZ15736;BAA23705;BAB46916;EAW68691;NP_056139;O43159 Hs.652255 1649027;1721723;1770928;1771151;1847581;2138503;5037552 A007B37;D8S2279;G59726;RH47197;WI-11689;WI-12713;WI-15843 KIAA0409;NML OTTHUMP00000229985;RRP8 methyltransferase homolog;cerebral protein 1;nucleomethylin;ribosomal RNA-processing protein 8 protein-coding HGNC:29030 13800 615818 VALIDATED 8655273 RRS1-AS1 RRS1 antisense RNA 1 (head to head) 8 8 8 63323523 63332913 - 67331822 67341212 - 66419587 66428977 - 100505676 ABBA01041871;AC009879;AI743648;AK125958;AMYH02018106;HG501300;NR_040434 Hs.121613 ncrna ENSG00000246145 HGNC:50465 VALIDATED 1322847 RRS1 RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mitotic metaphase plate congression; FOUND IN condensed nuclear chromosome; nucleolus; nucleus; INTERACTS WITH (+)-catechin; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 8 8 8 q13.1 63332964 63334669 + 67341263 67342968 + 66429028 66430733 + 1580863;6480464 10688653;11790298;12429849;12477932;15489334;15635413;16189514;19465021;21145461;21693764;22178446;22586326;22939629;22944692;24778252;24816145;7788527 23212 Q15050 ABBA01041871;AC009879;AK024716;AMYH02018106;BC001811;BC013043;CH471068;D25218;NM_015169 AAH01811;AAH13043;ABM83698;ABW03546;BAA04948;EAW86900;NP_055984;Q15050 Hs.71827 1649188;1667819;1681030;2109785;2140168 D8S1606;G27361;RH17390;RH25337;RRS1_9320 KIAA0112 OTTHUMP00000227420;homolog of yeast ribosome biogenesis regulator;homolog of yeast ribosome biogenesis regulatory protein RRS1;ribosome biogenesis regulatory protein RRS1 homolog;ribosome biogenesis regulatory protein homolog protein-coding ENSG00000179041 HGNC:17083 15277 VALIDATED 1347932 RSAD1 radical S-adenosyl methionine domain containing 1 ENCODES a protein that exhibits 4 iron, 4 sulfur cluster binding (inferred); coproporphyrinogen oxidase activity (inferred); metal ion binding (inferred); INVOLVED IN oxidation-reduction process (inferred); porphyrin-containing compound biosynthetic process (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH cobalt dichloride; copper(2+) sulfate; elemental selenium 17 17 17 q21.33 45017483 45024633 + 48556190 48563336 + 50478829 50485975 + 737633;6480464 12477932 14702039;20877624;8125298 55316 H0Y934;H0Y9X4;K7EKD3;Q9HA92 ABBA01041240;AC021491;AK002026;AK022105;AK024628;AK222472;AK293814;AK297655;AMYH02033593;BC005854;BC050538;CH471109;NM_018346 AAH05854;AAH50538;BAA92043;BAB13962;BAD96192;BAG57220;BAG60022;EAW94610;NP_060816;Q9HA92 Hs.8033 1736640;2140849;2144526 A002O08;D17S1479E;SHGC-31935 FLJ11164;FLJ20975 OTTHUMP00000221342;oxygen-independent coproporphyrinogen-III oxidase-like protein RSAD1;radical S-adenosyl methionine domain-containing protein 1, mitochondrial protein-coding ENSG00000136444 HGNC:25634 07737 PROVISIONAL 1347162 RS1 retinoschisin 1 This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008] X X X p22.13 22777900 22810314 - 18657808 18690223 - 18639688 18672103 - 1600147;1600148;1580863;6480464;7240710;8554872;8699517 9326935;9618178 10079181;10220153;10234514;10450864;10533068;10915776;11983912;12055472;12107411;12383832;12417531;12457918;12746437;12782284;12920343;12967815;14986011;15281981;15531314;15644328;15772651;16768192;17031297;17093404;17172462;17286855;17295148;17296904;17515881;17615541;17631851;17804407;17852193;17987333;18369700;18728755;18834580;18982040;19324861;19390641;19393523;19474399;19849666;20151283;20301401;2032721;20569020;20801516;20806044;20809529;21196491;21701876;21738583;22039241;22110067;22171610;22183371;22245991;22292953;23288992;23453514;23847049;24227916;24505212;8889548;9760195 6247 O15537 ABBA01071664;ABBA01071665;ABBA01071666;ABBA01071667;ABBA01071668;AF014459;AF018963;AL049684;AMYH02038953;BQ185379;BQ636812;CH471074;DQ426892;KF459019;NG_008659;NM_000330;Z92542;Z94056 AAC17928;AAC18405;AAI40344;AAI41639;ABD90543;EAW98942;NP_000321;O15537 Hs.715725 1701834;1733426;1938142;2117966;2141924 DXS6760;DXS7176;REN39908;RH11240;SHGC-32426 RS;XLRS1 OTTHUMP00000023004;X-linked juvenile retinoschisis protein;retinoschisin;retinoschisis (X-linked, juvenile) 1 APPROVED protein-coding ENSG00000102104 HGNC:10457 02426 300839;312700 REVIEWED 1607047 RRP7A ribosomal RNA processing 7 homolog A (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 5-aza-2'-deoxycytidine 22 22 22 q13.2 3 3260 + 42904341 42915829 - 42508335 42519823 - 6480464;6907045;8554872 10591208;10810093;11790298;12087473;12477932;14702039;15231747;15342556;15489334;16565220;18029348;21890473;21900206;21906983;21963094;22586326;22939629;23537643;24457600;24816145 27341 F8WAT7;Q9Y3A4 ABBA01055681;ABBA01055682;AK092492;AK314650;AL022316;AMYH02038460;AY039240;BC031838;BC035992;BC041639;BC042335;BC063537;BC064560;BC073834;BC121118;BC121119;BP314581;CH471138;NM_015703 AAH31838;AAH41639;AAH42335;AAH63537;AAH73834;AAI21119;AAI21120;AAK68659;BAG37211;EAW73254;NP_056518;Q9Y3A4 Hs.745006 1648115;1667147;2152048;2158413;2219688;5015404;5015861;5020740;5022578;5037552;7185938 A008L30;D10S16;D1S1423;D8S2279;L17705;L17809;SERHL__5382;STS-T78900;WI-14068;WI-14105 BK126B4.3;CGI-96;MGC150422;MGC150423 CTA-126B4.5;OTTHUMP00000198666;gastric cancer antigen Zg14;ribosomal RNA-processing protein 7 homolog A protein-coding HGNC:24286 13043 VALIDATED 1345303 RSAD2 radical S-adenosyl methionine domain containing 2 ENCODES a protein that exhibits 4 iron, 4 sulfur cluster binding; protein self-association; INVOLVED IN defense response to virus; negative regulation of protein secretion; negative regulation of viral genome replication; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; endoplasmic reticulum membrane; mitochondrial inner membrane; INTERACTS WITH 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 p25.2 6930748 6951316 + 7017796 7038370 + 6877665 6898232 + 737633;1580863;6480464;8554872 12477932 11752458;15890971;16108059;16849320;16982913;17626075;18005724;18077728;18768981;19074433;19920176;20026307;20176015;20534863;20628624;21053045;21527675;21957124;22045669;22182524;22363738;22377585;22647704;22677126;22734835;22896602;23018837;23160199;23333304;23509962;23638199;23935494;9391139 91543 C9J674;Q8WXG1 ABBA01023896;AC017076;AF026942;AF442151;AK300085;AK312670;AMYH02003227;BC017969;CH471053;NM_080657 AAH17969;AAL50053;AAY14802;ABM82903;ABM86094;BAG35552;BAG61888;EAX01034;EAX01035;NP_542388;Q8WXG1 Hs.17518 1649097;1768125;2185793;2218898;5015861;5037552;7185938 D10S16;D8S2279;RH70478;SHGC-34967;SHGC-64330;cig5__4576 2510004L01Rik;cig33;cig5;vig1 OTTHUMP00000115410;cytomegalovirus-induced gene 5 protein;radical S-adenosyl methionine domain-containing protein 2;viperin;virus inhibitory protein, endoplasmic reticulum-associated, interferon-inducible protein-coding ENSG00000134321 HGNC:30908 07423 607810 VALIDATED 1347428 RSBN1 round spermatid basic protein 1 FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; atrazine; benzo[a]pyrene diol epoxide I 1 1 1 p13.2 112533676 112584291 - 114304454 114355070 - 113761832 113812448 - 737633;6480464 12477932 14702039;14724137;18305142;18781797;19322201;19565500;20379614;21890473;22493691;23251661;24250222;24654937;24816145;8889549 54665 H0YDA9;Q5VWQ0 AA682921;ABBA01068458;AK002082;AK022166;AK292552;AL050064;AL137856;AL365321;AMYH02001775;BC026155;BQ062524;BX478083;CH471122;CR627402;N66761;NM_018364 AAH26155;BAA92075;BAB13974;BAF85241;CAH10493;EAW56570;EAW56571;EAW56572;NP_060834;Q5VWQ0 Hs.486285 1652627;1676752;1770368;1770370;2190951 A005Z42;G20635;MARC_12059-12060:1004549049:1;RH117;SHGC-75352 DKFZp781E21150;RP11-324J2.1 OTTHUMP00000013723;ROSBIN protein-coding ENSG00000081019 HGNC:25642 08561 615858 VALIDATED 1349878 RSC1A1 regulatory solute carrier protein, family 1, member 1 ENCODES a protein that exhibits ion channel inhibitor activity (inferred); INVOLVED IN negative regulation of transport; FOUND IN cell junction; Golgi apparatus; intracellular membrane-bounded organelle; INTERACTS WITH 1-nitropyrene; 17beta-estradiol; copper(2+) sulfate 1 1 1 p36.1 14469243 14471096 + 15986364 15988217 + 15659869 15661722 + 1580863;6480464 11018680;14702039;14724758;16788146;16788147;17686765;18029348;20800603;21139048;21890473;21906983;21988832;23000965;2675563;8836035 6248 Q92681 ABBA01004702;AK314753;AL121992;AMYH02000365;CH471167;CS436830;CS436838;NM_006511;X82877 AAI52938;BAG37292;CAA58058;CAL64679;CAL64683;EAW51744;NP_006502;Q92681 Hs.239459;Hs.709169 2159577 SHGC-74259 RS1;hRS1 OTTHUMP00000071185;regulatory solute carrier protein family 1 member 1;transporter regulator RS1 protein-coding ENSG00000215695 HGNC:10458 15994 601966 PROVISIONAL 1317478 RRP36 ribosomal RNA processing 36 homolog (S. cerevisiae) RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010] 6 6 6 p21.1 44541626 44549579 + 42989385 42997337 + 43021647 43029599 + 6480464 12477932;14574404;15489334;15635413;15983380;17081983;20038530;21890473 88745 Q96EU6;U3KPZ9 ABBA01050697;AF161371;AK313816;AL136304;AMYH02013638;BC006293;BC011933;CH471081;NM_033112 AAF28931;AAH06293;AAH11933;BAG36552;EAX04143;NP_149103;Q96EU6 Hs.309231 1690250;1852527 RH35864;RH48428 C6orf153;dJ20C7.4 OTTHUMP00000016415;RNA processing factor;ribosomal RNA processing protein 36 homolog APPROVED protein-coding ENSG00000124541 HGNC:21374 12859 613475 PROVISIONAL 6481021 RSF1-IT1 RSF1 intronic transcript 1 (non-protein coding) 100874308 AP002343 ncrna HGNC:41439 6481024 RSF1-IT2 RSF1 intronic transcript 2 (non-protein coding) 100874307 AP000609 ncrna HGNC:41438 2795592 RRN3P2 RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2 INTERACTS WITH benzo[a]pyrene diol epoxide I; methyl methanesulfonate; valproic acid 16 16 16 p11.2 27487935 27502787 - 29086163 29128039 + 29074842 29116718 + 6480464 15489334;15616553;8125298 653390 A6NIE6 ABBA01045672;ABBA01045673;ABBA01045674;ABBA01045675;ABBA01045676;AC009093;AK225670;AK298442;AK301253;AMYH02031822;DC420905;NR_003369 A6NIE6;BAG60661;BAG62820 Hs.720348 5112319 RH103343 pseudo ENSG00000103472 HGNC:37619 VALIDATED 1317332 RRP9 ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012] 3 3 3 p21.2 51946271 51954747 - 51967442 51975957 - 51933426 51941941 - 6480464 10982864;11790298;12032086;12381732;12429849;12477932;15489334;15574333;15635413;15761153;17081983;18029348;18624398;19333934;20360068;21139048;21505065;21890473;21906983;22113938;22178446;22586326;22939629;23000965;24163370;24250222;24778252;9418896 9136 O43818 AA465355;ABBA01024518;AC115284;AJ001340;AK313696;AMYH02006794;BC001113;BC009879;BC010048;BC021032;BC023662;CH471055;NM_004704 AAH01113;AAH09879;AAH10048;AAH23662;ABM86728;ABW03815;BAG36443;CAA04687;EAW65159;NP_004695;O43818 Hs.153768 2153538;5023487 IB2040;SHGC-77016 RNU3IP2;U3-55K OTTHUMP00000211033;RNA, U3 small nucleolar interacting protein 2;RRP9 homolog;RRP9, small subunit (SSU) processome component, homolog;RRP9, small subunit (SSU) processome component, homolog (yeast);U3 small nucleolar RNA-interacting protein 2;U3 small nucleolar ribonucleoprotein-associated 55 kDa protein;U3 snoRNP-associated 55 kDa protein;U3 snoRNP-associated 55-kDa protein protein-coding ENSG00000114767 HGNC:16829 08827 REVIEWED 1603381 RSG1 REM2 and RAB-like small GTPase 1 ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN cellular protein localization (ortholog); cilium assembly (ortholog); regulation of exocytosis (ortholog); FOUND IN ciliary basal body (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene 1 1 1 p36.13 15038074 15043551 - 16558182 16563659 - 16231687 16237164 - 6480464 12477932;15342556;16189514;17207965;19767740;21988832;22001757;24250222 79363 H0Y6L8;Q9BU20 ABBA01004678;AI744915;AL109627;AL559024;AMYH02000379;BC002946;BC008702;BP214716;CH471167;NM_030907 AAH02946;AAH08702;ADQ31905;EAW51773;NP_112169;Q9BU20 Hs.546430 1847230 SHGC-57061 C1orf89;MGC10731;RP4-733M16.4 OTTHUMP00000002233;OTTHUMP00000035995;REM2- and Rab-like small GTPase 1;Rem/Rab-Similar GTPase 1;miro domain-containing protein C1orf89 APPROVED protein-coding ENSG00000132881 HGNC:28127 14399 VALIDATED 1349992 RSL24D1P1 ribosomal L24 domain containing 1 pseudogene 1 6 6 6 p22.1 29354525 29354953 - 27748462 27748890 - 27780683 27781111 - 100129755 ABBA01038011;AL009179;AMYH02013388;NG_009885 RPL24p;RPL30BP;RSL24D1P;dJ97D16.2 APPROVED pseudo HGNC:13979 INFERRED 1351057 RSBN1L round spermatid basic protein 1-like FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 7 7 7 q11.23 72026342 72109715 + 77325743 77409120 + 77696426 77779803 + 737633;6480464 12477932 12690205;15146197;16344560;20383146;20811636;21890473;22939629;23000965;23251661;24816145 222194 C9JM20;H7C2D3;Q6PCB5 ABBA01058016;ABBA01058017;ABBA01058018;ABBA01058019;AC004955;AK124517;AK127713;AMYH02016104;AMYH02016105;AMYH02016106;AMYH02016107;BC046193;BC046353;BC059402;CH236949;CH471091;CN311934;DA097202;NM_198467 AAH46353;AAH59402;BAC85872;BAC87096;EAL24197;EAW77033;NP_940869;Q6PCB5 Hs.592289;Hs.72451 1335197;1664972;1670309;1773225;2136759;2141816;2149566;2179862;7183807 D7S1536;D7S2455;GDB:1317504;GDB:1317988;GDB:1317996;RH48974;SHGC-37054;SHGC-58208 FLJ42526;FLJ45813;MGC71764 OTTHUMP00000208147;OTTHUMP00000208235;round spermatid basic protein 1-like protein protein-coding ENSG00000187257 HGNC:24765 15278 VALIDATED 1322599 RSF1 remodeling and spacing factor 1 This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone. [provided by RefSeq, Sep 2011] 11 11 11 q14.1 74684965 74840171 - 77371047 77531915 - 77660002 77820869 - 1580863;6480464;8554872 10747848;11788598;11944984;12477932;12972596;14702039;15009096;15242768;15489334;16172393;16418735;16964243;17081983;18289639;18314909;18519663;19190325;19471022;19475691;20228782;20467438;20923775;21098080;21131837;21139048;21145461;21252943;21514451;21693764;21890473;21906983;21963094;21995635;22081787;22113938;22266860;22387541;22528946;22569540;22586326;22685262;22977663;23000965;23378270;23456648;23536579;23974106;24250222;24584698;24654937;25027693;7815490;9836642 51773 H0YCN2;H0YDG9;H0YER1;H0YEX0;H7C306;Q05DG0;Q96T23 ABBA01017420;ABBA01017421;ABBA01017422;ABBA01017423;ABBA01017424;AF059317;AF227948;AF380176;AK001268;AK096617;AL602953;AMYH02025136;AMYH02025137;AMYH02025138;AMYH02025139;AMYH02025140;AMYH02025141;AMYH02025142;AMYH02025143;AMYH02025144;AP000580;AP000609;AP002343;BC000774;BC011205;BC015360;BC046124;BC046347;CH471076;KF510383;NM_016578;XM_005274051 AAF61709;AAG43114;AAH15360;AAH46124;AAI48327;AAI53211;AAK57515;BAA91591;EAW75033;EAW75034;EAW75035;NP_057662;Q96T23;XP_005274108 Hs.420229;Hs.593415 1339180;1667987;1678141;1730209;1738197;1774537;1782494;1795966;2161110;2182721;2190535;5124373;7183805;7184674 D11S1117;D11S3829;D11S4014;D11S4558;D11S911;D11S948E;EST19G6;HBXAP_1276;RH44708;RH93405;SHGC-172594;STS-AA034409 HBXAP;RSF-1;XAP8;p325 HBV pX associated protein-8;HBV pX-associated protein 8;OTTHUMP00000197352;OTTHUMP00000233995;hepatitis B virus x associated protein;hepatitis B virus x-associated protein;p325 subunit of RSF chromatin-remodeling complex APPROVED protein-coding ENSG00000048649 HGNC:18118 10537 608522 VALIDATED 3340247 RSL24D1P2 ribosomal L24 domain containing 1 pseudogene 2 2 2 2 p15 62624884 62633327 - 62780115 62788558 - 62552980 62561423 - 100129162 ABBA01075390;AC092155;AMYH02003945;CH471053;NG_023155 EAW99974 pseudo HGNC:37867 INFERRED 2974689 RSL24D1P10 ribosomal L24 domain containing 1 pseudogene 10 5 5 5 q23.1 116961280 116961779 - 121007068 121007567 - 121671373 121671872 - 100130699 ABBA01068965;AC106806;AMYH02012083;NG_022991 pseudo HGNC:37875 INFERRED 1350657 RSL1D1 ribosomal L1 domain containing 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN osteoblast differentiation; regulation of apoptotic process; regulation of cellular senescence; FOUND IN membrane; nucleolus; INTERACTS WITH (-)-demecolcine; aflatoxin B1; arsenous acid 16 16 16 p13.13 12102372 12119761 - 11928053 11945442 - 11834196 11851585 - 6480464 11790298;12429849;12477932;12963728;15302935;15334068;15489334;15635413;15880258;16083285;16210410;16565220;16964243;17081983;17158916;17353931;18187620;18457437;18678645;18781797;19471022;19710015;19738201;20360068;21139048;21145461;21182205;21890473;21907836;21988832;22113938;22178446;22586326;22623428;22939629;23000965;23151878;23602568;24250222;24457600;24654937;24816145;25027693;9859858 26156 I3L1A3;I3L1Y4;I3L234;I3L2F2;I3L3C4;I3L3U9;I3L4T8;J3KPU7;J3QSV6;O76021 ABBA01006834;AC010654;AF074987;AF083127;AJ007398;AK000822;AK025446;AK295935;AL049999;AMYH02031482;AMYH02031483;AY154473;AY598331;BC009802;BC016362;BC017899;BC019069;BC070325;BC107782;BC112228;BC113699;BI856275;CH471112;NM_015659 AAF98239;AAH16362;AAH17899;AAH19069;AAI07783;AAI12229;AAI13700;AAN46298;AAT06742;ADR83016;ADR83180;BAG58720;CAA07491;CAB43231;EAW85133;EAW85134;EAW85135;NP_056474;O76021 Hs.401842 1686925 RH80148 CSIG;DKFZP564M182;L12;MGC138433;MGC142259;PBK1;UTP30 CATX-11;OTTHUMP00000160258;OTTHUMP00000160259;cellular senescence inhibited gene protein;cellular senescence-inhibited gene protein;ribosomal L1 domain-containing protein 1 protein-coding ENSG00000171490 HGNC:24534 10897 615874 VALIDATED 3160485 RSL24D1P5 ribosomal L24 domain containing 1 pseudogene 5 12 12 12 q14.2 63117499 63117989 - 63449055 63449545 - 63055275 63055765 - 100129941 ABBA01026625;AC078814;AMYH02026644;NG_022995 pseudo HGNC:37870 INFERRED 1350491 RSL24D1P6 ribosomal L24 domain containing 1 pseudogene 6 20 20 20 q11 27514464 27514944 - 30758101 30758581 - 32170298 32170778 - 140757 ABBA01019281;AL049539;AMYH02036919;NG_001000 RPL24P1;dJ836N17.3 APPROVED pseudo HGNC:37876 INFERRED 1320309 RSL24D1 ribosomal L24 domain containing 1 This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The protein encoded by this gene localizes to the nucleolus and is thought to play a role in the biogenesis of the 60S ribosomal subunit. The precise function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals and has multiple pseudogenes. [provided by RefSeq, Jul 2012] 15 15 15 q21 32362100 32377819 - 55473512 55489231 - 55181314 55197033 - 6480464 11707418;12429849;12477932;12808088;14702039;15231747;15489334;15635413;16189514;17207965;18562305;19322201;20237496;21048991;21139048;21145461;21507922;21890473;23000965;24250222;24816145 51187 H3BMQ2;H3BPF2;Q9UHA3 AB462502;ABBA01039035;AC011912;AF060926;AF165521;AF201949;AF212226;AK055713;AK315431;AMYH02030479;AMYH02030480;BC005344;BC008409;BC008422;BC008449;BC008499;BC009593;BC009604;BC012913;BC014576;BC016312;BC016331;BC016725;BC016777;BC026266;BC026267;BC028672;BC035995;BC093067;CH471082;CR457179;NM_016304 AAF17241;AAF86651;AAG43138;AAH08409;AAH08422;AAH08449;AAH08499;AAH09593;AAH09604;AAH12913;AAH14576;AAH16312;AAH16331;AAH16725;AAH16777;AAH26266;AAH26267;AAH28672;AAH35995;AAH93067;AAK26249;ADQ32560;BAG37819;BAG51559;CAG33460;EAW77473;EAW77474;EAW77475;NP_057388;Q9UHA3 Hs.274772 1653240;2119537;2148078 Cda17g12;RH47547;RH78444 C15orf15;HRP-L30-iso;L30;RLP24;RPL24;RPL24L;TVAS3 60S ribosomal protein L30 isolog;OTTHUMP00000162794;homolog of yeast ribosomal like protein 24;my024 protein;probable ribosome biogenesis protein RLP24;ribosomal L24 domain-containing protein 1;ribosomal protein L24-like APPROVED protein-coding HGNC:18479 12665 613262 REVIEWED 2947004 RSL24D1P3 ribosomal L24 domain containing 1 pseudogene 3 INTERACTS WITH 17beta-estradiol 7 7 7 q11.21 58641518 58642349 + 64800087 64800918 - 65335174 65336005 - 6480464 100130721 ABBA01008765;AC092685;AMYH02015877;NG_023002 pseudo HGNC:37883 INFERRED 3051027 RSL24D1P8 ribosomal L24 domain containing 1 pseudogene 8 19 19 19 12101626 12102111 + 12207239 12207724 + 12096424 12096909 + 100462809 ABBA01029809;AC022415;AMYH02035543;NG_021758 pseudo HGNC:37873 INFERRED 2975370 RSL24D1P4 ribosomal L24 domain containing 1 pseudogene 4 1 1 1 q43 216023129 216191697 + 242935870 242938607 + 242772568 242775305 + 23251661 391183 ABBA01022806;AC118471;AMYH02003054;NG_028107 1707034;1711204;1758573;2172384 AL009439;SHGC-148798;SHGC-81027;SHGC-85357 RSL24D1P19 pseudo HGNC:37884 VALIDATED 1605260 RSPH10B radial spoke head 10 homolog B (Chlamydomonas) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH afimoxifene; benzo[a]pyrene; cadmium atom 7 7 7 p22.1 364 8324 - 5965777 6010322 - 5926146 5970691 - 6480464;8554872 12477932;14702039;16507594;18976975 222967 B2RC85;F5GZE0;P0C881 ABBA01011061;ABBA01146600;ABBA01154663;ABBA01203421;AC004983;AC005995;AMYH02015155;AMYH02015156;AMYH02015157;AMYH02015158;AMYH02015159;AMYH02015160;AMYH02015161;AMYH02015162;BC034495;BC157864;BC157871;NM_173565;XM_005249659;XM_005249660;XM_006715669 AAH34495;AAI57865;AAI57872;B2RC85;NP_775836;P0C881;XP_005249716;XP_005249717;XP_006715732 Hs.442339 1651967;1661887;1684942;1698298;1698734;1712086;1712114;1847957;2147970;2147972;2165689 A005Y46;D7S1451;D7S2083E;G20608;G54092;G54106;GDB:1318541;RH102686;RH102928;RH80485;SHGC-31701 MGC50833;RSPH10B2 OTTHUMP00000201304;OTTHUMP00000201305;radial spoke head 10 homolog B;radial spoke head 10 homolog B2 protein-coding ENSG00000155026 HGNC:27362 11249 VALIDATED 3184210 RSL24D1P7 ribosomal L24 domain containing 1 pseudogene 7 8 8 8 p23.2 4834571 4904900 - 4928811 4930446 - 5071289 5072924 - 100129861 ABBA01007072;AC019176;AC105998;AMYH02017269;NG_028195 pseudo HGNC:37877 INFERRED 1313725 RSPH14 radial spoke head 14 homolog (Chlamydomonas) This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 7216163 7298792 - 23401593 23495807 - 23059415 23142054 - 1580863;6480464;8554872 10607907;12477932;15461802;15489334;15761153;16189514;18391951;22504420;24250222 27156 B5MCI8;H7BZU8;H7C2M5;H7C3W6;Q9UHP6 ABBA01055100;ABBA01055101;ABBA01055102;ABBA01055103;AC000029;AC245054;AF133587;AK299530;AK310327;AMYH02038122;BC008986;CH471095;CR456567;NM_014433 AAF02484;AAH08986;BAH13060;CAG30453;CAK54598;CAK54897;EAW59557;NP_055248;Q9UHP6 Hs.526920 1676376;1681526;1709250;1743401;1744379;1769194;2117874;2125455;2126355;2127349;2169960;2170554;2190827;5037552 A003B11;D22S1002E;D8S2279;G15854;GDB:315989;GDB:452621;GNAZ;NIB1826;RH1696;RH92755;SHGC-7743;SHGC-85815;STS-R98618;WI-14102 MGC16968;RTDR1 OTTHUMP00000197915;rhabdoid tumor deletion region gene 1;rhabdoid tumor deletion region protein 1 APPROVED protein-coding ENSG00000100218 HGNC:13437 16136 605663 REVIEWED 2300131 RSPH10B2 radial spoke head 10 homolog B2 (Chlamydomonas) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; benzo[a]pyrene (ortholog) 7 7 7 p22.1 364 8324 - 6793732 6838396 + 6754109 6798765 + 6480464;8554872 12477932;14702039;21832049 728194 B2RC85;C9JJN2;H0YFY2 AC073343;AC079882;AK093411;AK294481;AK314983;AMYH02015182;AMYH02015183;AMYH02015184;AMYH02015185;AMYH02015186;BC044242;NM_001099697;XM_005249830;XM_005249831;XM_005249832;XM_005249833;XM_005249834;XM_006715766;XM_006715767;XM_006715768;XR_428084 AAH44242;B2RC85;BAG37482;BAG52711;BAH11784;NP_001093167;P0C881;XP_005249887;XP_005249888;XP_005249889;XP_005249890;XP_005249891;XP_006715829;XP_006715830;XP_006715831 Hs.710326 1651967;1661887;1684942;1698298;1698734;1712086;1712114;1847957;2147970;2147972;2165689 A005Y46;D7S1451;D7S2083E;G20608;G54092;G54106;GDB:1318541;RH102686;RH102928;RH80485;SHGC-31701 FLJ36092;FLJ54347;FLJ95901;RSPH10B OTTHUMP00000200676;OTTHUMP00000200679;radial spoke head 10 homolog B;radial spoke head 10 homolog B-like;radial spoke head 10 homolog B2 protein-coding ENSG00000169402 HGNC:34385 PROVISIONAL 1348763 RSPH4A radial spoke head 4 homolog A (Chlamydomonas) This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 6 6 6 q22.1 117680709 117697215 + 116937642 116954148 + 116616411 116632985 + 6480464;7240710;8554872;8699517 12477932;14702039;18029348;19200523;20301301;22448264;23798057;8889548 345895 B3KTA9;Q5TD94 ABBA01026045;AK095293;AK299754;AL132795;AMYH02014354;BC022879;BC106949;CB851663;CH471051;NG_012934;NM_001010892;NM_001161664;XM_006715469 AAI06950;BAG53021;BAG61643;EAW48219;EAW48220;NP_001010892;NP_001155136;Q5TD94;XP_006715532 Hs.160380;Hs.625134 CILD11;FLJ37974;MGC126303;RSHL3;RSPH6B;dJ412I7.1 OTTHUMP00000017070;OTTHUMP00000017071;radial spoke head protein 4 homolog A;radial spoke head-like protein 3;radial spokehead-like 3 APPROVED protein-coding ENSG00000111834 HGNC:21558 18005 612647;612649 REVIEWED 1322691 RSPH3 radial spoke 3 homolog (Chlamydomonas) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 6 6 6 q25.3 160046571 160069312 - 159398077 159421424 - 158976184 159000392 - 737633;6480464;8554872 12477932 14702039;15225872;19684019;21832049;21906983;24250222 83861 Q86UC2 ABBA01021073;AF353618;AK057655;AK057931;AL035530;AMYH02014862;BC011590;BC035675;BC050604;CH471051;NM_031924;XM_005267153;XR_245553 AAH50604;AAK26432;BAB71544;BAB71615;EAW47641;EAW47642;EAW47643;NP_114130;Q86UC2;XP_005267210 Hs.154628 2130576 RH37580 RSHL2;RSP3;dJ111C20.1 OTTHUMP00000017517;OTTHUMP00000017518;radial spoke head 3 homolog;radial spoke head 3 homolog (Chlamydomonas);radial spoke head protein 3 homolog;radial spoke head-like protein 2;radial spoke protein 3;radial spokehead-like 2 protein-coding ENSG00000130363 HGNC:21054 15279 615876 VALIDATED 3419586 RSL24D1P11 ribosomal L24 domain containing 1 pseudogene 11 18 18 18 q21.31 52223319 52223882 + 55505708 55506271 + 57838476 57839039 + 18951430 284288 ABBA01056141;AC022724;AMYH02034800;NG_028175 pseudo HGNC:37881 INFERRED 1321745 RSPH9 radial spoke head 9 homolog (Chlamydomonas) This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 6 6 6 p21.1 45164388 45190375 + 43612767 43638935 + 43644557 43671198 + 6480464;7240710;8554872;8699517 12477932;14574404;14702039;15489334;16344560;19200523;20070851;20301301;22448264;24163370 221421 Q9H1X1 ABBA01050669;ABBA01050670;ABBA01050671;AK055407;AK291399;AL136131;AMYH02013650;BC029519;CH471081;DA486918;NG_023436;NM_001193341;NM_152732;XM_005248901;XM_006715013;XM_006715014 AAH29519;BAB70918;BAF84088;EAX04220;EAX04221;EAX04222;NP_001180270;NP_689945;Q9H1X1;XP_005248958;XP_006715076;XP_006715077 Hs.534585 1663564;1665408;1680829;2138805;2151508 D6S1173E;L17766;RH81005;STS-W44431;WI-14320 C6orf206;CILD12;FLJ30845;MRPS18AL1 OTTHUMP00000016493;OTTHUMP00000016494;mitochondrial ribosomal protein S18A-like 1;radial spoke head protein 9 homolog APPROVED protein-coding HGNC:21057 12875 612648;612650 REVIEWED 3378364 RSL24D1P9 ribosomal L24 domain containing 1 pseudogene 9 18 18 18 q21.2 45995049 46011989 - 49138929 49155870 - 51612559 51629500 - 100128991 ABBA01018692;AC011260;AMYH02034722;NG_023017 2163072 G19289 pseudo HGNC:37880 INFERRED 1603515 RSPO1 R-spondin 1 This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] 1 1 1 p34.3 36354952 36378499 - 38076821 38100595 - 37611350 37634923 - 6480464;7240710;7365105;8554872 23151663 12477932;14702039;14732490;15489334;16109882;16306530;16344560;16710414;17041600;17400545;17804805;18085567;18242177;18250097;18250098;18400942;19376480;19857464;20442404;21252233;21297984;21693646;21727895;21909076;22439850;22575959;22615920;22815884;22895193;22982762;23044875;23617070;23756651;23756652;23809763;23891289;23903657;24050775;24144296;24165923;24225776;24349440;24373193;24639526 284654 Q2MKA7 ABBA01023272;AK098225;AL513220;AMYH02000798;BC114966;CA438631;CH471059;DB273983;DQ165084;DQ165085;DQ318235;HH797330;KF573688;NG_012239;NM_001038633;NM_001242908;NM_001242909;NM_001242910;XM_006710583 AAI14967;ABA54597;ABA54598;ABC54570;BAC05263;CBX87729;EAX07331;NP_001033722;NP_001229837;NP_001229838;NP_001229839;Q2MKA7;XP_006710646 Hs.135015 CRISTIN3;FLJ40906;RP11-566C13.1;RSPO;hRspo1 OTTHUMP00000004516;OTTHUMP00000180611;OTTHUMP00000180612;OTTHUMP00000180613;R-spondin homolog;R-spondin-1;R-spondin1;roof plate-specific spondin;roof plate-specific spondin-1 APPROVED protein-coding ENSG00000169218 HGNC:21679 08288 609595;610644 REVIEWED 1317061 RSPH1 radial spoke head 1 homolog (Chlamydomonas) This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] 21 21 21 q22.3 29041548 29065352 - 43892596 43916417 - 42472486 42496354 - 1580863;6480464;8699517;7240710;8554872 12477932;14702039;15489334;16780588;17451891;23993197;24568568;8889548;9403069;9578619 89765 Q8WYR4 AB006536;AB041016;ABBA01004542;AK057315;AK314746;AMYH02037872;AMYH02037873;AP001624;AP001625;BC101519;BC113367;BG822861;BU684013;CH471079;KF457325;KF457329;NG_034257;NM_001286506;NM_080860;XM_005261208 AAI01520;AAI13368;ADR82898;BAB83694;BAB92995;BAG37286;EAX09556;EAX09557;EAX09558;NP_001273435;NP_543136;Q8WYR4;XP_005261265 Hs.661069 1731273;2177706 D21S49;SHGC-30133 CILD24;CT79;MGC126568;MGC141927;RSP44;RSPH10A;TSA2;TSGA2 OTTHUMP00000109364;OTTHUMP00000109365;cancer/testis antigen 79;h-meichroacidin;male meiotic metaphase chromosome-associated acidic protein;meichroacidin;radial spoke head 1 homolog;testes specific A2 homolog;testes specific a2 homolog (mouse);testes specific gene A2 homolog;testis specific A2 homolog;testis-specific gene A2 protein protein-coding ENSG00000160188 HGNC:12371 11651 609314;615481 REVIEWED 1603855 RSPO2 R-spondin 2 R-spondins (RSPOs), such as RSPO2, are secreted proteins that regulate beta-catenin (CTNNB1; MIM 116806) signaling (Kim et al., 2006 [PubMed 16357527]).[supplied by OMIM, Mar 2008] 8 8 8 q23.1 105098134 105283118 - 108911544 109095913 - 107899316 108083685 - 6480464;7365105;8554872 23151663 12477932;12975309;15469841;15489334;16344560;16357527;21160497;21732829;22127703;22895193;23407710;23455924;24050775;7829101 340419 B3KVP3;E5RGU9;E5RH25;E5RHC3;E5RJA2;E5RJU7;Q6UXX9 ABBA01037700;ABBA01037701;AC025508;AK123023;AK123027;AMYH02018585;AMYH02018586;AMYH02018587;AP003479;AX937227;AY358166;BC027938;BC036554;BI496604;CH471060;DA400238;KC877305;NM_001282863;NM_178565;XM_005250906;XM_005250907 AAH27938;AAH36554;AAQ88533;BAG53852;BAG53855;CAF04293;EAW91913;EAW91914;EAW91915;EAW91916;NP_001269792;NP_848660;Q6UXX9;XP_005250963;XP_005250964 Hs.444834 1728197;2169992;2172802;2180633;5114185 G32159;G63521;RH45057;SHGC-34805;WI-13991 MGC35555;MGC43342;hRspo2 CRISTIN2;OTTHUMP00000227844;OTTHUMP00000227845;R-spondin 2 homolog;R-spondin-2;roof plate-specific spondin-2 APPROVED protein-coding ENSG00000147655 HGNC:28583 17536 610575 VALIDATED 1344766 RSPO4 R-spondin 4 This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] 20 20 20 p13 1035254 1079064 - 939095 982907 - 958452 1002284 - 6480464;7240710;7365105;8554872;8699517 23151663 11780052;14702039;15144186;16357527;17041604;17186469;17596144;17805348;17914448;18070203;18779895;22300369;23234511;24050775;8889548 343637 Q2I0M5 ABBA01053762;ABBA01053763;AK122609;AL050325;AMYH02036562;BQ185331;CH471133;DQ355152;NG_013043;NM_001029871;NM_001040007;XM_006723563 AAI56853;ABC75877;EAX10652;EAX10653;NP_001025042;NP_001035096;Q2I0M5;XP_006723626 Hs.444980 1676786;1751883;2178585 RH92167;SHGC-105814;WI-16682 C20orf182;CRISTIN4;FLJ16018;R-spondin-4;dJ824F16.3;hRspo4 OTTHUMP00000029946;OTTHUMP00000180593;R-spondin family, member 4;chromosome 20 open reading frame 182;roof plate-specific spondin-4 APPROVED protein-coding ENSG00000101282 HGNC:16175 206800;610573 REVIEWED 1344817 RSPH6A radial spoke head 6 homolog A (Chlamydomonas) The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008] 19 19 19 q13.3 43104019 43123641 - 46298968 46318605 - 45795710 45815347 - 6480464;8554872 11076863;11230166;11237735;11256614;12477932;14702039;15489336;16344560;16381901;16751776;21658281;8125298 81492 M0R103;M0R2K1;Q9H0K4 ABBA01040952;ABBA01040953;AC011530;AC092301;AK093068;AK098837;AK223347;AL136761;AMYH02036209;BC057785;BC136351;BC136352;BC144018;CH471126;DB037465;HC007272;HC044529;NM_030785 AAH57785;AAI36352;AAI36353;AAI46684;BAD97067;CAB66695;CAL38364;CBH19441;CBH30594;EAW57388;NP_110412;Q9H0K4 Hs.146544 1730061;2132035 D19S207;RH11655 RSHL1;RSP4;RSP6;RSPH4B ortholog of mouse radial spokehead-like 1;radial spoke head protein 6 homolog A;radial spoke head-like protein 1;radial spokehead-like 1 APPROVED protein-coding ENSG00000104941 HGNC:14241 09611 607548 REVIEWED 1606482 RSPRY1 ring finger and SPRY domain containing 1 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH atrazine; benzene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 q13 41720063 41772638 + 57220026 57274385 + 57186197 57240473 + 6480464 11853319;12477932;12975309;14702039;15489334;19322201;19549727;21139048;21890473;21906983;23000965 89970 H3BPL2;H3BQG6;H3BQQ7;H3BSC7;Q96DX4 AB075852;ABBA01025263;ABBA01025264;ABBA01025265;AC009090;AK027549;AK124601;AK172845;AL834402;AMYH02032101;AY358548;BC013173;CH471092;CS300510;NM_133368;XM_005256220;XM_005256221;XM_005256223;XM_005256224;XM_006721324 AAH13173;AAQ88912;ADZ15513;BAB85558;BAD18809;BAG51341;CAD39064;CAK32174;EAW82909;EAW82910;EAW82911;NP_588609;Q96DX4;XP_005256277;XP_005256278;XP_005256280;XP_005256281;XP_006721387 Hs.460885 1777153;1783334;2190869;5014051;5015619;5022200;5022578;5037552 D11S3114;D1S1423;D8S2278;D8S2279;L18426;MARC_10053-10054:997213319:1;RH68051;SHGC-141255 KIAA1972 OTTHUMP00000164667;RING finger and SPRY domain-containing protein 1 protein-coding ENSG00000159579 HGNC:29420 13908 PROVISIONAL 1606784 RSRC2 arginine/serine-rich coiled-coil 2 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-fluorouracil; acetaldehyde 12 12 12 q24.31 122581526 122603559 - 122989190 123011560 - 122504643 122527013 - 6480464;8554872 12477932;14702039;15231747;16344560;16713569;17203224;21832049;23602568 65117 B3KMH4;E1B6W4;E9PI52;F5GYD2;F5H1Z2;H0YGP9;Q7L4I2 AB212664;ABBA01060462;AC127002;AF161432;AK001883;AK023985;AK056114;AK056256;AK094465;AMYH02027428;AMYH02027429;AMYH02027430;AX877741;BC008684;BC067773;BX640711;BX647884;CA442478;CH471054;DB081070;NM_023012;NR_036434;NR_036435;NR_036436;XM_005253601;XM_005253602;XM_005253604;XM_005253606;XR_242958;XR_242959 AAF28992;AAH08684;AAH67773;BAB14755;BAE93762;BAG50986;CAE45830;CAE89858;EAW98327;EAW98328;EAW98329;EAW98330;EAW98331;EAW98332;NP_075388;Q7L4I2;XP_005253658;XP_005253659;XP_005253661;XP_005253663 Hs.432996 1720681;1768535;2106763;2161163;2167231 G17637;G59156;GC06S04;RH44615;RH66589 FLJ11021 OTTHUMP00000236187;arginine/serine-rich coiled-coil protein 2 protein-coding HGNC:30559 13342 VALIDATED 1344044 RSS Russell Silver syndrome ASSOCIATED WITH Silver-Russell Syndrome (inferred) 7240710 1633648;8403458 140821 HGNC:10462 180860 1603978 RSRP1 arginine/serine-rich protein 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH acetaldehyde; arsenous acid; benzo[a]pyrene 1 1 1 p36.13-p35.1 23893296 23898542 - 25568740 25574010 - 25242249 25247519 - 6480464;8554872 12477932;16189514;17207965;21700265;21832049;23455924;23602568;24250222;8125298 57035 H3BMN1;H3BMX3;H3BP33;H3BT33;H3BTJ0;H3BVB7;Q9BUV0 ABBA01059930;AC247058;AF247168;AF267856;AK027318;AK226012;AK292532;AK296798;AL031432;AL576262;BC001892;BC041843;BC065040;BI756502;CH471134;NM_020317;XR_241200;XR_241201;XR_426623 AAG44543;AAG44725;AAH01892;AAH41843;AAH65040;ADQ31734;BAB55038;BAF85221;BAG59373;EAW95157;EAW95158;EAW95159;EAW95160;EAW95161;NP_064713;Q9BUV0 Hs.259412 1734198;2121683;2134980;2170402 D1S1736E;SHGC-74392;SHGC-74420;SHGC-74430 C1orf63;DJ465N24.2.1;NPD014;RP3-465N24.4 OTTHUMP00000040540;UPF0471 protein C1orf63;hypothetical protein LOC57035 APPROVED protein-coding ENSG00000117616 HGNC:25234 14835 VALIDATED 1347723 RSU1P1 Ras suppressor protein 1 pseudogene 1 10 10 10 q11.21 39233522 39237610 + 43230155 43234243 + 42734707 42738795 + 100129622;414239 ABBA01049992;AL022344;AMYH02022702;CH471160;NG_008398 EAW86569 Y214H10.6 pseudo HGNC:31114 INFERRED 6903393 RSU1P2 Ras suppressor protein 1 pseudogene 2 10 10 10 q11.21 41598104 41653244 - 45594924 45650044 - 45099476 45154596 - 12477932;14702039 100133308 ABBA01050024;ABBA01050025;AK057413;AK310252;AL358394;AMYH02022732;AMYH02022733;BC043276;NR_024472 Hs.434365 1709020;1757515;1782120 SHGC-144890;SHGC-155154;SHGC-79578 pseudo HGNC:44391 VALIDATED 6903418 RSU1P3 Ras suppressor protein 1 pseudogene 3 10 10 10 46342298 46343095 + 53079608 53080405 + 51319848 51320645 + 100419964 ABBA01052499;AC069079;AMYH02023068;NG_025504;NG_029982 2135864 WI-11512 pseudo HGNC:44392 INFERRED 1606213 RTBDN retbindin This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 19 19 19 p12 12826003 12835935 - 12936291 12946242 - 12825477 12835428 - 6480464 12107411;12477932;14702039;15489334;16344560;16712791;17207965;19862010;21697133;8889548 83546 K7EIS2;K7EKV3;K7EM70;K7EN64;K7ENA4;K7EQL9;K7ES48;K7ESG0;K7ESL8;Q8N210;Q9BSG5 AB593122;ABBA01029769;ABBA01029770;AC020934;AK093672;AMYH02035558;AY028917;BC005063;BG471112;BM688006;BM688127;BM708463;BQ639040;BU689643;CB140693;CH471106;DB106146;EL946853;NM_001080997;NM_001270440;NM_001270441;NM_001270442;NM_001270443;NM_001270444;NM_001270445;NM_031429;XM_005260089;XM_005260090;XM_006722919 AAH05063;AAK26169;ADQ31883;BAC04217;BAJ84062;EAW84314;EAW84315;EAW84316;NP_001074466;NP_001257369;NP_001257370;NP_001257371;NP_001257372;NP_001257373;NP_001257374;NP_113617;Q9BSG5;XP_005260146;XP_005260147;XP_006722982 Hs.21162 1341815;1676340;1711402 D19S914;G42185;RH99147 FLJ36353 APPROVED protein-coding ENSG00000132026 HGNC:30310 18007 609553 REVIEWED 8656950 RTCA-AS1 RTCA antisense RNA 1 1 1 1 98987040 98988506 - 100730298 100731730 - 100264742 100266174 - 100506007 ABBA01045442;AL445928;AMYH02001555;DA390082;DA695476;HG492318;NR_110434;NR_110435;XR_110480;XR_112088;XR_171180 Hs.192268 ncrna HGNC:50573 VALIDATED 1344520 RTCA RNA 3'-terminal phosphate cyclase This gene encodes a member of the RNA 3'-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3'-phosphate of RNA substrates to a 2',3'-cyclic phosphodiester. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 1 1 1 p21.2 98988517 99014945 + 100731714 100758325 + 100266158 100292769 + 1323842;1580863;6480464 9184239 12477932;15489334;16344560;17353931;18029348;19615732;19690099;21139048;21145461;21890473;21963094;2199762;22939629;24250222;8889548 8634 A6NIC1;O00442 ABBA01045441;ABBA01045442;AI587400;AK292366;AK299793;AK307445;AL445928;AL663111;AMYH02001555;AU310497;BC012604;CA437545;CF141820;CH471097;DA361597;DB576272;NM_001130841;NM_003729;XM_005271298;XM_005271299;Y11651;Y11652 AAH12604;ADZ15734;BAF85055;BAG61672;CAA72364;CAA72365;EAW72961;EAW72962;NP_001124313;NP_003720;O00442;XP_005271355;XP_005271356 Hs.484222 1709136;2107557;2118683;2121315;5022450;5022578;5024039;5024761 D10S275;D16S325;D1S1423;RH36905;RTCD1_7923;SHGC-53265;SHGC-75228;SHGC-85729 RPC;RTC1;RTCD1 OTTHUMP00000012593;OTTHUMP00000012594;RNA cyclase;RNA terminal phosphate cyclase domain 1;RNA terminal phosphate cyclase domain-containing protein 1;RNA-3'-phosphate cyclase;RTC domain containing 1;RTC domain-containing protein 1;phosphate cyclase APPROVED protein-coding ENSG00000137996 HGNC:17981 15280 611286 REVIEWED 1345647 RTEL1 regulator of telomere elongation helicase 1 This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] 20 20 20 q13.3 58970388 59011862 + 62289163 62327606 + 63657810 63696253 + 6480464;7240710;8554872 10470851;10655513;11780052;12168954;12477932;14702039;15210109;18957201;19578366;19578367;19913121;20203049;20368557;20462933;20610542;20628086;20847058;21102463;21145461;21297633;21350045;21531791;21920947;21963094;21987572;22505724;22678362;22886559;23115063;23259602;23329068;23453664;23535732;23591994;23683922;23812731;23891004;23959892;24009516;24332808;24523019 51750 F6WH68;Q9NZ71;R4IXY3;X6R5I7;X6RBZ7 ABBA01021415;ABBA01021416;AF217795;AF217796;AK000485;AK299332;AK302508;AK304798;AL080127;AL121845;AL353715;AMYH02037467;AW005229;CH471077;JX119186;NG_033901;NM_001283009;NM_001283010;NM_016434;NM_032957 AAF33687;AAF35243;AGE89266;BAA91197;BAG61337;BAG63785;BAG65548;CAB45725;EAW75238;EAW75239;EAW75240;EAW75241;EAW75245;NP_001269938;NP_001269939;NP_057518;NP_116575;Q9NZ71 Hs.745057 2108587 TNFRSF6B_2708 C20orf41;DKCA4;DKCB5;DKFZp434C013;KIAA1088;NHL;RTEL;bK3184A7.3 OTTHUMP00000031577;OTTHUMP00000184892;OTTHUMP00000221856;OTTHUMP00000221858;OTTHUMP00000221859;novel helicase-like;regulator of telomere length APPROVED protein-coding ENSG00000258366 HGNC:15888 15281 608833;615190 REVIEWED 1605075 RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase ENCODES a protein that exhibits poly(A) RNA binding; RNA ligase (ATP) activity; vinculin binding; INVOLVED IN tRNA splicing, via endonucleolytic cleavage and ligation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; nucleus; tRNA-splicing ligase complex; INTERACTS WITH lead(0); lead(2+); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 22 22 22 q12 16585734 16610445 - 32783562 32808274 - 32387575 32412287 - 6480464;8554872 10591208;10931946;11042152;12477932;12529303;15163412;15461802;15489334;16196087;16236267;17623298;18781797;19738201;20308539;20639865;21139048;21145461;21209330;21311021;21890473;21906983;21963094;22174317;22505724;22586326;22863883;22939629;23000965;23181366;23277564;23382691;24250222;24457600;24583282;24654937;24816145;5163412 51493 Q9Y3I0 ABBA01055375;AF155658;AF161466;AK297826;AK297908;AK301945;AK312503;AL021937;AL050255;AL137272;AMYH02038266;BC000151;BC002970;BC010308;BC016707;BU615556;CH471095;CR456450;CR457175;DC396330;NM_014306 AAF29081;AAF67477;AAH00151;AAH02970;AAH10308;AAH16707;ABM81857;ABM85018;BAG35405;BAG60162;BAG60227;BAG63363;CAB43357;CAB70670;CAG30336;CAG33456;EAW60021;NP_055121;Q9Y3I0 Hs.474643 1799908;1800966;1801908;1802116;1807952;1808502;1810680;1812020;1821930;1822966;1823502;1825334;1828664;1831978;1831980;1832512;1835792;1835986;1836402;1841142;1841484;1845014;1855433;2013524;2013526;2013528;2013530;2013532;2013534;2013536;2013538;2013540;2013542;2013544;2013546;2013548;2013550;2013552;2013554;2013556;2013558;2013560;2013562;2013564;2013566;2013568;2013570;2013572;2013574;2013576;2013578;2013580;2013582;2013584;2013586;2013588;2013590;2013592;2013594;2013596;2013598;2013600;2013602;2013604;2013606;2013608;2013610;2013612;2013614;2013616;2013618;2013620;2013622;2013624;2013626;2013628;2013630;2013632;2013634;2013636;2013638;2013640;2013642;2013644;2013646;2013648;2013650;2013652;2013654;2013656;2013658;2013660;2013662;2013664;2013666;2013668;2013670;2013672;2013674;2013676;2013678;2013680;2013682;2013684;2013686;2013688;2013690;2013692;2013694;2013696;2013698;2013700;2013702;2013704;2013706;2013708;2013710;2013712;2013714;2013716;2013718;2013720;2013722;2013724;2013726;2013728;2013730;2013732;2013734;2013736;2013738;2013740;2013742;2013744;2013746;2013748;2013750;2013752;2013754;2013756;2013758;2098684;2098686;2098688;2098690;2098692;2098694;2098696;2098698;2098700;2098702;2098704;2098706;2098708;2098710;2098712;2098714;2098716;2098718;2109407;2120378;2132561;2168007 A002Q35;D22S1242;D22S746;ECD00808;ECD01348;ECD01835;ECD01940;ECD04951;ECD05233;ECD06334;ECD07015;ECD12051;ECD12571;ECD12842;ECD13773;ECD15459;ECD17127;ECD17128;ECD17395;ECD19057;ECD19154;ECD19363;ECD21765;ECD21938;ECD23723;HSPC117_9724;REN77699;REN77700;REN77701;REN77702;REN77703;REN77704;REN77705;REN77706;REN77707;REN77708;REN77709;REN77710;REN77711;REN77712;REN77713;REN77714;REN77715;REN77716;REN77717;REN77718;REN77719;REN77720;REN77721;REN77722;REN77723;REN77724;REN77725;REN77726;REN77727;REN77728;REN77729;REN77730;REN77731;REN77732;REN77733;REN77734;REN77735;REN77736;REN77737;REN77738;REN77739;REN77740;REN77741;REN77742;REN77743;REN77744;REN77745;REN77746;REN77747;REN77748;REN77749;REN77750;REN77751;REN77752;REN77753;REN77754;REN77755;REN77756;REN77757;REN77758;REN77759;REN77760;REN77761;REN77762;REN77763;REN77764;REN77765;REN77766;REN77767;REN77768;REN77769;REN77770;REN77771;REN77772;REN77773;REN77774;REN77775;REN77776;REN77777;REN77778;REN77779;REN77780;REN77781;REN77782;REN77783;REN77784;REN77785;REN77786;REN77787;REN77788;REN77789;REN77792;REN77793;REN77794;REN77795;REN77796;REN77797;REN77798;REN77799;REN77800;REN77801;REN77802;REN77803;REN77804;REN77805;REN77806;REN77807;REN77808;REN77809;REN77810;REN77811;REN77812;REN77813;REN77814;REN77815;REN77816;REN77817;REN77818;RH70409;stSG602736;stSG602737;stSG602738;stSG602739;stSG602740;stSG602741;stSG602742;stSG602743;stSG602744;stSG602745;stSG602746;stSG602747;stSG602748;stSG602749;stSG602750;stSG602751;stSG602752;stSG602753 C22orf28;DJ149A16.6;FAAP;HSPC117;RP1-149A16.6 OTTHUMP00000028639;ankyrin repeat domain 54;focal adhesion-associated protein;hypothetical protein LOC51493;novel protein HSPC117;tRNA-splicing ligase RtcB homolog APPROVED protein-coding ENSG00000100220 HGNC:26935 13695 613901 VALIDATED 6766967 RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring RTEL1 (regulator of telomere elongation helicase 1) and TNFRSF6B (tumor necrosis factor receptor superfamily, member 6b, decoy) genes on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 20 20 q13.33 62289163 62330051 + 63657810 63698698 + 6480464;8554872 10470851;10655513;12477932;19578366;19578367;20967262;21297633;21531791;22886559;23259602;23535732 100533107 D6RA96 ABBA01021415;ABBA01021416;AL121845;AL353715;AMYH02037467;NR_037882 Hs.745057 APPROVED ncrna ENSG00000026036 HGNC:44095 VALIDATED 6771191 RTEL1P1 regulator of telomere elongation helicase 1 pseudogene 1 4 4 4 110571169 110575147 + 113276893 113281069 + 112355737 112359913 + 100421429 ABBA01063814;AC004049;AMYH02009932;KF457808;NG_025241 pseudo HGNC:44213 INFERRED 1345376 RSPO3 R-spondin 3 This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013] 6 6 6 q22.33 128182296 128260461 + 127439844 127520626 + 127118699 127199481 + 1580863;6480464;7365105 23151663 10842357;12463421;12477932;12643280;14574404;14702039;15489334;16357527;18978678;19084217;20379614;20935629;21252233;21397842;21533022;21909076;21909109;22207351;22504418;22504420;22797727;22895193;22965941;23128233;23563607;23972371;24050775;24097068;24430505 84870 Q9BXY4 AA568446;ABBA01025936;AF086298;AF251057;AI095468;AK314912;AL031776;AL590733;AMYH02014444;BC022367;CH471051;KF458275;NM_032784;XM_005267167 AAH22367;AAK34947;ABM82333;ABM85509;BAG37424;EAW48114;EAW48115;EAW48116;NP_116173;Q9BXY4;XP_005267224 Hs.135254 1686154;1719679;1749431;2106723;2116374;2179727 RH124054;RH94253;SHGC-111164;SHGC-57345;SHGC-57647;THSD2__5255 CRISTIN1;FLJ14440;PWTSR;R-spondin-3;THSD2;hPWTSR;hRspo3 OTTHUMP00000017160;OTTHUMP00000017161;R-spondin 3 homolog;protein with TSP type-1 repeat;roof plate-specific spondin-3;thrombospondin type-1 domain-containing protein 2;thrombospondin, type I, domain containing 2;thrombospondin-like APPROVED protein-coding HGNC:20866 18181 610574 REVIEWED 1312504 RTKN2 rhotekin 2 INVOLVED IN hemopoiesis (inferred); positive regulation of cell proliferation (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 10 10 10 q21.2 57220086 57295600 - 63942794 64028570 - 62193086 62268863 - 1580863;6480464;8554872 12477932;14702039;15120425;15504364;16385451;19430483;20360068;20467438;20936779;22990118;23028356;23273568;24250222;24390342 219790 Q5SVY4;Q8IZC4 ABBA01019487;AC024597;AK096671;AL607150;AMYH02023193;AY150309;BC025765;BC048002;BC141821;BC142725;BG029885;BX113509;CH471083;CR749217;GN344023;GN344025;NM_001282941;NM_145307;XM_006717695 AAH25765;AAI41822;AAI42726;AAI60167;AAN71738;BAC04837;CAH18074;CAY55947;CAY55948;EAW54230;EAW54231;EAW54232;NP_001269870;NP_660350;Q8IZC4;XP_006717758 Hs.58559 1718995 G58245 DKFZp686J10120;PLEKHK1;bA531F24.1 OTTHUMP00000035699;PH domain-containing family K member 1;pleckstrin homology domain containing, family K member 1;pleckstrin homology domain-containing family K member 1;rhotekin-2 protein-coding ENSG00000182010 HGNC:19364 17863 VALIDATED 1602404 RTL1 retrotransposon-like 1 This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009] 14 14 14 q32.2 81400811 81405006 - 101346569 101359826 - 100880655 100884847 - 6480464 12477932;12508121;12796779;15854907;16093683;16155747;18176563;19966805;23593033;24389010 388015 A6NKG5;B9EK54 ABBA01048516;AL117190;AMYH02029863;BC150617;NM_001134888 A6NKG5;AAI50618;NP_001128360 Hs.298602 5492035 MARC_10877-10878:993140164:1 MART1;Mar1;PEG11 OTTHUMP00000236199;mammalian retrotransposon derived protein 1;paternally expressed gene 11 protein;retrotransposon-derived protein PEG11;retrotransposon-like protein 1 APPROVED protein-coding ENSG00000254656 HGNC:14665 611896 REVIEWED 732399 RTN1 reticulon 1 This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] 14 14 14 q23.1 40111786 40386796 - 60062694 60337557 - 59595976 59870839 - 1580863;6480464;8554872 11126360;12477932;12832288;12873973;14702039;14995077;15086514;15117958;15286784;15489334;16189514;16500619;16505974;16602018;17303085;17596210;17684057;17786215;19140693;19665976;19668229;20000484;20379614;20708685;22522967;23559015;7515034;7685762;7844160;8062278;8275708;8833145;8889548;8900485;9560466 6252 A8K3B9;A8MT72;Q16799 ABBA01018271;ABBA01018272;ABBA01018273;AK128113;AK290534;AK297492;AL121694;AL133299;AL139194;AMYH02029290;AMYH02029291;BC000314;BC003003;BC068510;BC090862;BC111694;BG704578;BM671733;BX449967;CH471061;CR457030;DQ355431;L10333;L10334;L10335;NG_029558;NM_021136;NM_206852 AAA59950;AAA59951;AAA59952;AAH00314;AAH03003;AAH90862;AAI11695;ABC71342;BAF83223;BAH12591;CAG33311;EAW80762;EAW80763;EAW80764;NP_066959;NP_996734;Q16799 Hs.368626 1645691;1654326;1681740;1704716;1717267;1750969;1850086;1852993;2156788;2168717 G17818;G35773;G35945;G36061;RH122048;RH68289;RH80660;SHGC-104853;SHGC-12509;SHGC-79018 MGC133250;NSP OTTHUMP00000165247;OTTHUMP00000165248;OTTHUMP00000165249;neuroendocrine-specific protein;reticulon-1 APPROVED protein-coding ENSG00000139970 HGNC:10467 02921 600865 REVIEWED 1313402 RSU1 Ras suppressor protein 1 This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. [provided by RefSeq, Jul 2008] 10 10 10 p13 16565823 16792666 - 16632615 16859509 - 16590616 16817454 - 1580863;6480464 12477932;12510772;12665801;14702039;1508180;15242332;15489334;15878342;16385451;17353931;18436335;19019082;19322201;19738201;20379614;20697350;21139048;21355061;21832049;21890473;21900206;21906983;21963094;22863883;23000965;23251661;23383273;23455922;23793025;24250222;24255178;24816145;25036637;7624154;8076819;8125298;8288261;8816460 6251 Q15404 ABBA01034563;ABBA01034564;ABBA01034565;ABBA01034566;AC073367;AK023951;AK024109;AK055596;AK092036;AK225681;AK292911;AK312520;AL365215;AMYH02022241;BC005993;BC008384;BC008691;BC015644;BC016337;BC065296;BC107898;BG400752;BX647733;CH471072;CR536521;CR541840;EF445013;NM_012425;NM_152724;XM_005252552 AAH05993;AAH08691;AAH15644;AAI07899;ACA06048;ACA06049;ACA06050;BAF85600;BAG35419;CAG38758;CAG46639;EAW86222;EAW86223;EAW86224;NP_036557;NP_689937;Q15404;XP_005252609 Hs.524161 1335499;1338139;1646992;1649993;1651603;1668292;1676690;1699122;1713281;1755549;2167669;5024761;5037552 A008Q44;D10S1476;D10S1661;D8S2279;RH103137;RH120632;RH17616;RH36905;SHGC-142403;STS-AA012883;STS-AA019537;STS-N32556;WI-20644 FLJ31034;RSP-1;rsu-1 OTTHUMP00000019216;OTTHUMP00000019217;OTTHUMP00000019218;OTTHUMP00000019219;ras suppressor protein 1 variant 1;ras suppressor protein 1 variant 2;ras suppressor protein 1 variant 3 APPROVED protein-coding ENSG00000148484 HGNC:10464 01551 179555 REVIEWED 1602488 RSRC1 arginine/serine-rich coiled-coil 1 This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012] 3 3 3 q25.32 156251731 156686586 + 157823690 158262624 + 158105949 158544835 + 6480464;8554872 11329013;12477932;15489334;15798186;16169070;17207965;19065146;19913121;20360068;20379614;20600988;20628086;23455924;23563607;23602568;24457600;24816145 51319 C9J367;C9J713;C9J8Q2;C9JVB3;F8WDM0;H7C558;H7C5Q0;Q96IZ7 ABBA01058820;ABBA01058821;ABBA01058822;ABBA01058823;AC074276;AC106707;AC112502;AC112774;AC129107;AC253558;AF208853;AK290334;AK300388;AMYH02007993;AMYH02007994;AMYH02007995;BC006982;BC010357;BG205691;CH471052;DA273191;NM_001271834;NM_001271838;NM_016625;XM_005247515;XM_005247516;XM_005247517;XM_005247518 AAF64267;AAH06982;AAH10357;ADQ32651;BAF83023;BAG62122;EAW78692;EAW78693;EAW78694;NP_001258763;NP_001258767;NP_057709;Q96IZ7;XP_005247572;XP_005247573;XP_005247574;XP_005247575 Hs.591283 1679990;1713615;1716219;1748627;1750497;1784602;1891244;2117218;2122790;2151412 D3S3419;REN16326;RH120686;RH121136;RH65530;RH98506;SHGC-110282;SHGC-111808;SHGC-111925;SHGC-13701 BM-011;MGC12197;SFRS21;SRrp53 OTTHUMP00000213400;OTTHUMP00000213443;OTTHUMP00000213444;OTTHUMP00000213445;OTTHUMP00000213446;OTTHUMP00000213447;OTTHUMP00000213451;arginine/serine-rich coiled coil 1;arginine/serine-rich coiled-coil protein 1;serine/Arginine-related protein 53;splicing factor, arginine/serine-rich 21 APPROVED protein-coding ENSG00000174891 HGNC:24152 18006 613352 REVIEWED 1349287 RTN3 reticulon 3 This gene belongs to the reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting enzyme 1 (BACE1), and the production of amyloid-beta. An increase in the expression of any reticulon protein substantially reduces the production of amyloid-beta, suggesting that reticulon proteins are negative modulators of BACE1 in cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, and pseudogenes of this gene are located on chromosomes 4 and 12. [provided by RefSeq, May 2012] 11 11 11 q13 60773986 60853237 + 63448922 63527363 + 63681450 63759891 + 1580863;6480464;8554872 10331947;12054434;12477932;12811824;12832288;12873973;14702039;14986927;15117958;15286784;15350194;15489334;15560370;15799019;15946766;16054885;16189514;16196087;16303743;16847569;16965550;16979658;17031492;17081983;17182608;17191123;17379544;17699523;18029348;18779370;18854154;19284479;19364499;19386906;19405102;19521671;19669607;19730683;20374499;20379614;20717916;21044950;21139048;21906983;21964562;22190034;22505724;22742855;22939629;23407961;24250222;24816145;8125298 10313 B7Z4M1;F5GWG7;F5H617;F5H891;O95197 AB209771;ABBA01003259;ABBA01003260;ABBA01003261;ABBA01003262;ABBA01003263;ABBA01003264;AF059524;AF059529;AF119297;AK075412;AK094965;AK122727;AK127079;AK222898;AK295361;AK295534;AK295758;AK297529;AK297533;AK304100;AK307811;AK308083;AK309766;AMYH02024915;AMYH02024916;AMYH02024917;AMYH02024918;AP000753;AP006289;AY427821;AY750848;BC000634;BC000865;BC010556;BC011394;BC022993;BC100822;BC100823;BC105981;BC105982;BC118550;BC118628;BK001681;BK001682;BK001683;BK001684;BK001685;CH471076;CQ754316;CQ754322;CS051431;NM_001265589;NM_001265590;NM_001265591;NM_006054;NM_201428;NM_201429;NM_201430;NR_049750;NR_049751 AAC99319;AAD20951;AAD26810;AAH00634;AAH00865;AAH10556;AAH11394;AAH22993;AAI00823;AAI00824;AAI05982;AAI05983;AAI18551;AAI18629;AAI48633;AAR02474;AAU81930;BAD93008;BAD96618;BAG52134;BAH12044;BAH12097;BAH12179;BAH12606;BAH12607;BAH14104;CAF32494;CAF32497;CAI72209;DAA01930;DAA01931;DAA01941;DAA01942;DAA01943;EAW74164;EAW74165;EAW74166;EAW74167;EAW74168;EAW74169;EAW74170;NP_001252518;NP_001252519;NP_001252520;NP_006045;NP_958831;NP_958832;NP_958833;O95197 Hs.743229 1658131;1674701;1686192;1737081;1786238;2157163;2167608;2176234 D11S2301E;D11S2837;D11S4017;D11S4400;D3S4219;D7S2862;RH91589;SHGC-132011 HAP;NSPL2;NSPLII;RTN3-A1 ASY interacting protein;ASYIP;NSP-like protein 2;NSP-like protein II;OTTHUMP00000237754;OTTHUMP00000237755;OTTHUMP00000237756;OTTHUMP00000237757;OTTHUMP00000237759;homolog of ASY protein;isoforme III;isoforme VI;neuroendocrine-specific protein-like 2;neuroendocrine-specific protein-like II;reticulon-3 APPROVED protein-coding ENSG00000133318 HGNC:10469 18516 604249 REVIEWED 1322335 RTFDC1 replication termination factor 2 domain containing 1 INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); clofibrate (ortholog) 20 20 20 q13.31 51784073 51834372 + 55043641 55093942 + 56468585 56518886 + 6480464 10931946;11042152;11780052;12477932;14702039;15342556;15489334;15635413;21139048;21900206;23824909;24816145;8125298 51507 A2A2L5;A2A2L6;A8MSH5;B4DXL5;Q9BY42 AA814039;ABBA01052894;ABBA01052895;AF117231;AF161513;AF161518;AF212244;AI352436;AK000481;AK000586;AK026118;AK225135;AK293662;AK302029;AK314563;AL109806;AMYH02037339;AY320413;BC001536;BC002769;BC003359;BG468509;BP307634;BU537939;CR983692;DC397043;NM_001283035;NM_001283036;NM_001283037;NM_016407 AAF17212;AAF29128;AAF29133;AAH02769;AAH03359;AAK14929;AAP73812;BAA91193;BAG37146;BAG57109;BAG63427;NP_001269964;NP_001269965;NP_001269966;NP_057491;Q9BY42 Hs.517134 2128917;2168444;5093764 A009W14;G32909;RH17873 C20orf43;CDAO5;HSPC164;SHUJUN-3 OTTHUMP00000031353;OTTHUMP00000166074;OTTHUMP00000166075;UPF0549 protein C20orf43;hypothetical protein LOC51507;protein RTF2 homolog;replication termination factor 2 domain-containing protein 1 APPROVED protein-coding ENSG00000022277 HGNC:15890 12769 VALIDATED 1348834 RTN4IP1 reticulon 4 interacting protein 1 This gene encodes a novel mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. The interaction of reticulon 4 with mitochondrial proteins may provide insight into the mechanisms for reticulon-induced inhibition of neurite growth. [provided by RefSeq, Jul 2008] 6 6 6 q21 107639823 107698287 - 107018903 107077373 - 106571028 106629498 - 1580863;6480464 12067236;12160746;12477932;14574404;14702039;15489334;16189514;20379614;20877624;23393170 84816 G3V1R2;Q8WWV3 A52373;ABBA01026193;ABBA01026194;ABBA01026195;AF336861;AF439711;AK095207;AK313962;AL390074;AMYH02014242;AMYH02014243;AY063761;BC006399;BE894352;BQ936729;CH471051;NM_032730 AAH06399;AAK64603;AAL34525;AAL40856;ABM84071;ABM87437;BAC04499;BAG36678;CAA03396;EAW48409;EAW48410;EAW48411;NP_116119;Q8WWV3 Hs.155839 1714819;1732584;5016352 D17S1152;L30021;RH120076 MGC12934;NIMP NOGO-interacting mitochondrial protein;OTTHUMP00000016926;reticulon-4-interacting protein 1, mitochondrial APPROVED protein-coding HGNC:18647 18008 610502 REVIEWED 1354382 RTKN rhotekin This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 2 p13.1 74484177 74500249 - 74652988 74669060 - 74425861 74441933 - 1580863;6480464;8554872 10873388;10940294;12477932;12516569;12593858;12879077;14506264;15075243;15316142;15467718;15480428;15489334;15599595;15652748;15694321;15761153;15766663;15834426;15889147;16007136;16646955;16979770;17546647;18854161;19294487;19360360;19805522;20171953;21832049;21906983;22228765;22964635;24255178;8662891;9073523;9847074 6242 Q9BST9 ABBA01075600;AC005041;AF049227;AF290512;AK307302;AK308519;AMYH02004091;AW410753;BC004558;BC017727;BG470092;BQ574374;BQ721791;CH471053;NM_001015055;NM_001015056;NM_033046;XM_005264478;XM_005264479 AAG01181;AAH04558;AAH17727;AAL16767;ABM82397;ABW03397;EAW99674;EAW99675;EAW99676;NP_001015055;NP_001015056;NP_149035;Q9BST9;XP_005264535;XP_005264536 Hs.192854 2147387;2159850 A005N24;WI-14006 OTTHUMP00000160413;OTTHUMP00000202559;OTTHUMP00000202560 APPROVED protein-coding ENSG00000114993 HGNC:10466 03795 602288 REVIEWED 1607007 RTN4R reticulon 4 receptor This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 4079624 4107575 - 20228938 20255816 - 20241415 20268293 - 6480464;7240710 10591208;11076863;11201742;11230166;11256614;11891768;12037567;12068310;12089450;12160746;12183616;12378589;12422217;12426574;12477932;12692556;12718853;12839991;12951563;12975309;14702039;14966521;15331667;15340161;15461802;15489334;15489336;15532024;15694321;15694322;15749087;15953414;16341674;16342940;16381901;16897606;17182778;17188332;17192395;17335080;17959786;18043741;19052207;19328785;19386899;19439611;20398908;20524398;20697954;20844138;21377214;21454605;21681431;21906273;22133682;22728374;22903127;23251661;23982337;24321711 65078 H7C0V4;H7C215;Q9BZR6 ABBA01005393;AC007663;AF283463;AK054602;AL834449;AMYH02038057;AMYH02038058;BC011787;BM762412;CH471176;CR456360;HC469551;KF457364;NG_012176;NM_023004 AAG53612;AAH11787;ABM83817;ABM87137;CAD39109;CAG30246;CAK54501;CAK54800;CAL38146;CBL54388;EAX02975;EAX02976;NP_075380;Q9BZR6 Hs.30868 2124339 WI-16026 NGR NOGOR;Nogo-66 receptor;OTTHUMP00000197856;OTTHUMP00000197866;UNQ330/PRO526;nogo receptor;reticulon-4 receptor APPROVED protein-coding ENSG00000040608 HGNC:18601 16123 181500;605566 REVIEWED 1348623 RTN4RL1 reticulon 4 receptor-like 1 ENCODES a protein that exhibits receptor activity; INVOLVED IN axon regeneration (inferred); FOUND IN anchored component of plasma membrane; cell surface; extracellular vesicular exosome; INTERACTS WITH copper(2+) sulfate; hydralazine; lead(0) 17 17 17 p13.3 1854579 1944759 - 1837971 1928178 - 1934677 2024884 - 1580863;6480464 12068310;12477932;12694398;12839991;14664809;22133682;25011449 146760 Q86UN2 ABBA01054682;ABBA01054683;ABBA01054684;ABBA01054685;ABBA01054686;ABBA01054687;AC099684;AC130689;AF532859;AI680692;AL535679;AL834409;AMYH02032758;AMYH02032759;AMYH02032760;AY250219;BC023311;BC128608;BK001305;CH471108;NM_178568 AAI28609;AAP21836;AAP82836;CAD39071;DAA01388;EAW90570;EAW90571;NP_848663;Q86UN2 Hs.22917 1340644;1764627;1766683;2127674;2144969;2176591 D17S654;D17S831;G29262;SHGC-148214;SHGC-149967;STS-AA004275 DKFZp547J144;NGRH2;NgR3 Nogo-66 receptor homolog 2;Nogo-66 receptor-related protein 3;nogo receptor-like 2;reticulon-4 receptor-like 1 protein-coding ENSG00000185924 HGNC:21329 11523 610461 VALIDATED 1321684 RTF1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010] 15 15 15 q15.1 18477273 18543722 + 41709302 41775761 + 41417104 41483563 + 737633;6480464 12477932 12168954;15489334;15632063;15923622;17081983;17353931;17576814;18029348;18184592;18469135;19345177;19471022;19953087;20178742;20305087;20379614;20467438;20881960;21139048;21406692;21693764;21726809;21832049;21906983;22082156;22405323;22863883;22939629;23463506;23602568;24101474;24816145;9039502 23168 H0YKX1;Q92541 ABBA01038405;ABBA01038406;ABBA01038407;ABBA01038408;AC087721;AI871361;AK292302;AMYH02030270;AW291085;BC015052;BF979715;CD367287;CH471125;D87440;NG_027680;NM_015138 AAH15052;BAA13382;BAF84991;EAW92490;EAW92491;EAW92492;NP_055953;Q92541 Hs.511096 1658806;1687686;1754945;1776148;1850639;2115520 AFM282XC5;RH46920;RH79051;RH80780;SHGC-141865;STS-AA029898 CDG1N;GTL7;KIAA0252 OTTHUMP00000165174;RNA polymerase-associated protein RTF1 homolog;ortholog of mouse gene trap locus 7 APPROVED protein-coding ENSG00000137815 HGNC:28996 11071 611633 REVIEWED 1344970 RTN4RL2 reticulon 4 receptor-like 2 ENCODES a protein that exhibits receptor activity; INVOLVED IN axon regeneration (inferred); FOUND IN anchored component of plasma membrane; cell surface; extracellular vesicular exosome; INTERACTS WITH diazinon; lead(0); lead(2+) 11 11 11 q12.1 54584904 54600951 + 57227926 57244384 + 57460537 57477539 + 1580863;6480464 12477932;12694398;12839991;14664809;15489334;15629437;16554811;18337405;20360068;21906273 349667 G3V1D7;Q86UN3 ABBA01021472;ABBA01021473;AF532858;AMYH02024843;AP002893;AX751514;AY250221;BC113673;BC117276;BC143818;BE410139;BK001302;BU845536;CH471076;DQ864979;HY323308;NM_178570 AAI13674;AAI17277;AAI43819;AAP21835;AAP82838;ABI23432;CAD99155;DAA01385;EAW73747;EAW73748;NP_848665;Q86UN3 Hs.502618;Hs.603388 NGRH1;NgR2 Nogo-66 receptor homolog 1;OTTHUMP00000234816;nogo receptor-like 3;nogo-66 receptor-related protein 2;reticulon-4 receptor-like 2 protein-coding ENSG00000186907 HGNC:23053 11524 610462 VALIDATED 1604751 RTP1 receptor (chemosensory) transporter protein 1 ENCODES a protein that exhibits olfactory receptor binding; INVOLVED IN protein insertion into membrane; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell surface; INTERACTS WITH silicon dioxide; benzo[a]pyrene (ortholog); indole-3-methanol (ortholog) 3 3 3 q27.3 185347101 185351080 + 186915274 186919253 + 187197486 187201465 + 6480464;8554872 12477932;15489334;15550249;16271481;16720576;17387175;22570474 132112 P59025 ABBA01058376;AC007920;AMYH02008359;AY562235;BC034744;BC065202;CH471052;NM_153708 AAH34744;AAH65202;AAT70680;ABM81733;ABM84888;EAW78155;NP_714919;P59025 Hs.518480 2113734 AB070181 MGC35450;Z3CXXC1 OTTHUMP00000195022;receptor transporter protein 1;receptor transporting protein 1;receptor-transporting protein 1;zinc finger, 3CxxC-type 1 protein-coding ENSG00000175077 HGNC:28580 16449 609137 VALIDATED 1605965 RTP4 receptor (chemosensory) transporter protein 4 INVOLVED IN detection of chemical stimulus involved in sensory perception of bitter taste; protein targeting to membrane; FOUND IN cytoplasm; INTERACTS WITH cyclosporin A; ethyl methanesulfonate; formaldehyde 3 3 3 q27.3 185518026 185521231 + 187086168 187089372 + 187368380 187371584 + 6480464 12477932;15489334;15550249;16271481;16720576 64108 Q96DX8 ABBA01058371;AC068299;AJ251832;AMYH02008361;AY562238;BC013161;CA413859;CH471052;NM_022147 AAH13161;AAT70683;ABM81972;ABM85151;CAC14309;EAW78148;NP_071430;Q96DX8 Hs.43388 2181159 STS-N23400 IFRG28;Z3CXXC4 28 kDa interferon-responsive protein;28kD interferon responsive protein;OTTHUMP00000209925;receptor transporter protein 4;receptor transporting protein 4;receptor-transporting protein 4;zinc finger, 3CxxC-type 4 protein-coding HGNC:23992 17136 609350 VALIDATED 1354047 RTN3P1 reticulon 3 pseudogene 1 4 4 4 q31.21 143624067 143626665 + 146296532 146299129 + 145375380 145377977 + 724607 12832288 10331947 152905;359808 ABBA01070027;AC079228;AMYH02010252;NG_005175 2167608 D11S2301E NSPLII;RTN3PS APPROVED pseudo HGNC:19212 INFERRED 1353966 RTP3 receptor (chemosensory) transporter protein 3 INVOLVED IN detection of chemical stimulus involved in sensory perception of bitter taste; protein targeting to membrane; FOUND IN cytoplasm; INTERACTS WITH choline (ortholog); folic acid (ortholog); L-methionine (ortholog) 3 3 3 p21.3 46477225 46480179 + 46539485 46542439 + 46497995 46500949 + 1580863;6480464 11896456;12477932;15550249;16271481;16720576;17693185;20175129 83597 Q9BQQ7 ABBA01024713;AC098613;AJ312776;AMYH02006670;AY562237;BC131756;CH471055;NM_031440 AAI31757;AAT70682;CAC37401;EAW64768;NP_113628;Q9BQQ7 Hs.196584 2107675 TMEM7__5096 LTM1;TMEM7;Z3CXXC3 OTTHUMP00000164717;receptor transporter protein 3;receptor transporting protein 3;receptor-transporting protein 3;transmembrane protein 7;zinc finger, 3CxxC-type 3 protein-coding HGNC:15572 06214 607181 PROVISIONAL 1606110 RTP5 receptor (chemosensory) transporter protein 5 (putative) FOUND IN integral component of membrane (inferred) 2 2 2 q37.3 236471678 236475274 + 242811886 242815482 + 241869734 241873330 + 12477932;14702039 285093 F8WB75;Q14D33 ABBA01018784;AC131097;AK090909;AMYH02006122;BC113517;BC113519;CH471063;NM_173821 AAI13518;AAI13520;BAC03544;EAW71299;EAW71300;EAW71301;EAW71302;NP_776182;Q14D33 Hs.376307 C2orf85;CXXC11;FLJ33590;MGC142077;MGC142079;Z3CXXC5 CXXC finger protein 11;CXXC-type zinc finger protein 11;OTTHUMP00000199881;hypothetical protein LOC285093;receptor-transporting protein 5;uncharacterized protein C2orf85;zinc finger, 3CxxC-type 5 APPROVED protein-coding HGNC:26585 08159 VALIDATED 1351891 RTN2 reticulon 2 This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012] 19 19 19 q13.32 42794649 42806419 - 45988546 46000313 - 45485288 45497055 - 1580863;6480464;7240710;8554872;8699517 10672514;10677333;12427890;12477932;12832288;14499622;15286784;15345747;16344560;18096700;18187620;19720795;20301682;22232211;8812484;9530622;9693037 6253 A8K7F2;K7EMR7;O75298;Q6GMT0;Q7RTN0;Q96CG9 AA845604;ABBA01040931;ABBA01040932;AC138534;AF004222;AF004223;AF004224;AF038540;AI971392;AK291967;AK314158;AMYH02036200;BC014244;BC073874;BK001686;BK001687;BK001688;BK001689;BK001690;BK001691;BM548456;CH471126;DA898294;NG_032157;NM_005619;NM_206900;NM_206901;XR_243948 AAC14910;AAC32542;AAC32543;AAC32544;AAH73874;BAF84656;DAA01932;DAA01933;DAA01934;DAA01935;DAA01936;DAA01944;EAW57354;EAW57355;EAW57356;EAW57357;EAW57358;EAW57359;NP_005610;NP_996783;NP_996784;O75298 Hs.47517 1331558;1335108;1337579;1340062;1681658;1686142;1742049;1758951;2217926 D19S219;D19S220;D19S416;D19S897;GDB:190035;RH45916;RH76054;RTN2_3450;SHGC-2303 NSP2;NSPL1;NSPLI;SPG12 NSP-like protein 1;NSP-like protein I;Neuroendocrine-specific protein-like 1;neuroendocrine-specific protein-like I;reticulon-2;spastic paraplegia 12 (autosomal dominant) APPROVED protein-coding ENSG00000125744 HGNC:10468 04421 603183;604805 REVIEWED 1312929 RUFY1 RUN and FYVE domain containing 1 This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 5 5 5 q35.3 174612171 174665953 + 178977562 179037027 + 179550561 179610026 + 1580863;6480464;6907045;8554872 11172003;11877430;12477932;14617813;14702039;15342556;15489334;16344560;17233583;17868192;20534812;21139048;21906983;21988832;22558309;22797925;22863883;22911880;22939629;23144738;24816145;9050988 80230 A8K7B1;H0Y9Y8;H0YA47;H0YAC8;J3KPP6;Q96T51 AB209507;ABBA01010021;ABBA01010022;ABBA01010023;ABBA01010024;ABBA01010025;ABBA01010026;AC136604;AF312367;AF361055;AK025904;AK075021;AK093848;AK291926;AMYH02012880;AMYH02012881;BC016564;BC032571;BP358497;BQ014374;BQ014980;CB988835;CH471165;DA648204;DA811890;DA925727;NG_031967;NM_001040451;NM_001040452;NM_025158;XM_005265993;XM_006714921;XM_006714922;XR_245276;XR_245277 AAH32571;AAK50771;AAQ14554;ADZ15938;BAB15276;BAD92744;BAF84615;BAG52773;EAW53810;NP_001035541;NP_001035542;NP_079434;Q96T51;XP_005266050;XP_006714984;XP_006714985 Hs.306769 1677116;2130779;5014051;5015867;5016478;5022200;5022578;5037552 D1S1423;D8S2278;D8S2279;GDB:312714;GDB:434012;L18426;RH99066;SHGC-13723 FLJ22251;RABIP4;ZFYVE12 FYVE-finger protein EIP1;OTTHUMP00000161521;OTTHUMP00000223249;OTTHUMP00000223250;OTTHUMP00000223251;OTTHUMP00000223301;RUN and FYVE domain-containing 1;RUN and FYVE domain-containing protein 1;la-binding protein 1;rab4-interacting protein;zinc finger FYVE domain-containing protein 12 APPROVED protein-coding ENSG00000176783 HGNC:19760 15282 610327 REVIEWED 1606102 RTP2 receptor (chemosensory) transporter protein 2 ENCODES a protein that exhibits olfactory receptor binding; INVOLVED IN protein insertion into membrane; FOUND IN cell surface; INTERACTS WITH benzo[a]pyrene (ortholog); indole-3-methanol (ortholog); N-acetyl-L-cysteine (ortholog) 3 3 3 q27.3 185847022 185851326 - 187416047 187420345 - 187698259 187702557 - 6480464 12477932;15489334;15550249;16271481;16720576;17207965;23284291 344892 Q5QGT7 ABBA01058367;AC072022;AMYH02008368;AY562236;BC068081;CH471052;NM_001004312 AAH68081;AAT70681;ADQ32015;EAW78144;NP_001004312;Q5QGT7 Hs.567872 5015183 SHGC-152548 MGC78665;Z3CXXC2 OTTHUMP00000209924;receptor transporter protein 2;receptor transporting protein 2;receptor-transporting protein 2;zinc finger, 3CxxC-type 2 protein-coding ENSG00000198471 HGNC:32486 12371 609138 VALIDATED 1604831 RUFY3 RUN and FYVE domain containing 3 INVOLVED IN negative regulation of axonogenesis (ortholog); FOUND IN filopodium (ortholog); growth cone (ortholog); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; arsane 4 4 4 q13.3 68927653 69031337 + 71570647 71674336 + 70704937 70808619 + 6480464 10048485;12477932;14702039;15342556;15489334;16169070;16344560;17439943;20376209;21832049;24255178 22902 B4DKC2;D6RCQ1;D6REM9;D6RH24;H0Y8G6;H0Y8I0;Q7L099 AA435606;AA987739;AB020678;ABBA01022937;ABBA01022938;ABBA01022939;ABBA01022940;ABBA01022941;AC009570;AC021989;AF112221;AK000911;AK294421;AK296501;AK302637;AMYH02009425;AMYH02009426;AMYH02009427;AMYH02009428;BC051716;BC053837;BC071988;BC098433;BE670566;BM920380;BP202281;BU622102;CH471057;DA015234;DA248021;DA285699;DA484908;DB051039;DB482497;DB483639;DC299541;NM_001037442;NM_001130709;NM_001291993;NM_001291994;NM_014961;XM_005265656;XM_005265657;XM_005265658;XM_005265659;XM_006714148;XM_006714149;XM_006714150;XR_427534;XR_427535;XR_427536;XR_427537;XR_427538;XR_427539 AAF17208;AAH51716;ABZ92309;BAA74894;BAG50837;BAG57670;BAG59134;BAG63879;EAX05629;EAX05630;NP_001032519;NP_001124181;NP_001278922;NP_001278923;NP_055776;Q7L099;XP_005265713;XP_005265714;XP_005265715;XP_005265716;XP_006714211;XP_006714212;XP_006714213 Hs.740904 1652937;1690081;1700300;1777790;1784990;2128883;2128885;2164879;2179814;2186979;5111107 A002A32;D4S2538E;D4S2562E;G19859;RH103769;RH11635;RH12424;RH36129;RH45149;SHGC-112396;SHGC-34593 KIAA0871;RIPX;SINGAR1 OTTHUMP00000160358;OTTHUMP00000160359;OTTHUMP00000219124;OTTHUMP00000219126;rap2 interacting protein x;rap2-interacting protein x;singar;single axon-regulated protein;single axon-related 1 protein-coding ENSG00000018189 HGNC:30285 15251 611194 VALIDATED 1315475 RTTN rotatin This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013] 18 18 18 q22.2 64518916 64720330 - 67671040 67872962 - 70003804 70205726 - 6480464;8699517;7240710;8554872 11900971;12477932;14702039;19850743;19948479;21139048;21906983;21963094;22939636;23314748;23514108 25914 J3KSV7;J3KT00;J3KTD2;Q86VV8 ABBA01056289;ABBA01056290;AC011930;AC021701;AK096404;AK126538;AK128137;AK129866;AL117635;AMYH02034931;AMYH02034932;AMYH02034933;BC007359;BC013774;BC026879;BC046222;BC046931;BC047602;BC143723;BF507420;CH471117;CR749799;JX424573;NG_033104;NM_173630;XM_005266679;XM_006722434;XM_006722435;XR_430072 AAH07359;AAH26879;AAH46222;AAH47602;AAI56292;AGL91773;BAC86583;BAC87292;CAB56025;CAH18659;EAW66516;EAW66517;EAW66518;EAW66519;EAW66520;EAW66521;NP_775901;Q86VV8;XP_005266736;XP_006722497;XP_006722498 Hs.654809 1657372;1658659;1659257;1671977;2109787;2146381;2174554 A003N15;AFMB277XC5;D18S1330;G18023;IB2403;RH11790;RTTN_9430 DKFZp434G145;FLJ26356;FLJ39085;PMGYS APPROVED protein-coding ENSG00000176225 HGNC:18654 11525 610436;614833 REVIEWED 730919 RTN4 reticulon 4 This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 2 p16.3 55039812 55118248 - 55199325 55307770 - 54972189 55112616 - 1580863;2314957;6480464 17439704 10048485;10667780;10667796;10667797;10773680;11042152;11076863;11126360;11201742;11358445;11866689;11891768;12037567;12067236;12089450;12270696;12377379;12425946;12426574;12477932;12488097;12510146;12618765;12692556;12811824;12951563;14592966;14644040;14702039;14741411;15034570;15147731;15234466;15245492;15286784;15345747;15489334;15489336;15498874;15661375;15694321;15749087;15820318;15953657;16095439;16169070;16189514;16381901;16629624;16646068;16772867;16835300;16905119;16965550;16979658;17022955;17029193;17081983;17242333;17335080;17353931;17437522;17455292;17474147;17592524;17626519;17645629;17764014;17971502;18080785;18234903;18495952;18583979;18685489;18779370;18781797;18948092;19035836;19054571;19165527;19336839;19405102;19508346;19553259;19587271;19654939;19665976;19889996;20018888;20379614;20487307;20599731;20717916;20938157;20971739;20975041;21044950;21111015;21139048;21166502;21183689;21251247;21454605;21503119;21697531;21835431;21890473;21900206;21906983;21963094;21988832;22133682;22190034;22304920;22313113;22320844;22939629;23000965;23042479;23142642;23146900;23313137;23479081;23874603;23982337;24129566;24332808;24401759;24816145 57142 C9J685;F8W914;H7C106;Q9NQC3 AB015639;AB020693;AB040462;AB040463;AB073351;AB073359;ABBA01075259;AC013414;AC092461;AC093165;AF063601;AF077050;AF087901;AF125103;AF132047;AF132048;AF148537;AF148538;AF177332;AF320999;AF333336;AI671568;AJ251383;AJ251384;AJ251385;AK075039;AK090714;AK093785;AK098385;AK129806;AK130812;AK172726;AK302741;AMYH02003846;AY102276;AY102277;AY102278;AY102279;AY102285;AY123245;AY123246;AY123247;AY123248;AY123249;AY123250;BC001035;BC007109;BC010737;BC012619;BC014366;BC016165;BC026788;BC068991;BC071848;BC150182;BC152425;BC152555;CH471053;CQ829486;CS061793;DQ778739;HA642584;HC469555;HI649219;NG_029037;NM_007008;NM_020532;NM_153828;NM_207520;NM_207521;XM_005264434 AAD27783;AAD31021;AAD31022;AAD39920;AAG12176;AAG12177;AAG12205;AAG17976;AAG40878;AAG43160;AAH01035;AAH07109;AAH10737;AAH12619;AAH14366;AAH16165;AAH26788;AAH68991;AAH71848;AAI39929;AAI50183;AAI52426;AAI52556;AAK20831;AAM64240;AAM64241;AAM64242;AAM64243;AAM64244;AAM64245;AAM64246;AAM64247;AAM64248;AAM64249;AAM64250;AAM64251;AAM64252;AAM64253;AAM64254;AAX93116;AAY24029;AAY24239;ABG76010;BAA74909;BAA83712;BAB18927;BAB18928;BAE45714;BAE45717;BAG63956;CAB99248;CAB99249;CAB99250;CAH03193;CAI79370;CAL37631;CAL37982;CAL38000;CAL38158;CAL38414;CAL38434;CAZ39560;CBL54390;CBX89232;EAX00115;EAX00116;EAX00117;EAX00118;EAX00119;EAX00120;EAX00121;EAX00122;EAX00123;EAX00124;EAX00125;EAX00126;EAX00127;EAX00128;EAX00129;EAX00130;EAX00131;EAX00132;NP_008939;NP_065393;NP_722550;NP_997403;NP_997404;Q9NQC3;XP_005264491 Hs.637850 1650089;1673126;1676023;1700104;1734732;1772571;1848194;1852301;1857096;2114068;2121223;2173787;5093354 A002P20;A009M26;AB049853;D2S1521E;D2S1848;D2S1981;G32670;RH103665;RH11556;RH36073;RH80159;SGC32447;SHGC-5636 ASY;NI220/250;NOGO;NOGO-A;NSP;NSP-CL;Nbla00271;Nbla10545;Nogo-B;Nogo-C;RTN-X;RTN4-A;RTN4-B1;RTN4-B2;RTN4-C Human NogoA;My043 protein;NOGOC;OTTHUMP00000159690;OTTHUMP00000159691;OTTHUMP00000201714;OTTHUMP00000201715;OTTHUMP00000201716;OTTHUMP00000201800;OTTHUMP00000201801;OTTHUMP00000201802;OTTHUMP00000201803;foocen;neurite growth inhibitor 220;neurite outgrowth inhibitor;neuroendocrine-specific protein C homolog;reticulon 5;reticulon-4;reticulon-5 APPROVED protein-coding ENSG00000115310 HGNC:14085 07259 604475 REVIEWED 1353142 RUNDC2A RUN domain containing 2A 16 16 p13.13 12244630 12321783 + 12070602 12147141 + 737633 12477932 14702039;19773279;8889548 84127 AC007216;AC007601;AK022425;BQ185857;NM_032167 BAB14033;NP_115543;Q9HA26 Hs.458401 1648300;1678217;2154889 D16S3015;SHGC-1353;WI-3711 FLJ12363 OTTHUMP00000160262;RUN domain-containing protein 2A protein-coding HGNC:25711 07767 VALIDATED 1602820 RUFY4 RUN and FYVE domain containing 4 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 2 2 2 q35 212667545 212721497 + 218899657 218955304 + 218034934 218090581 + 8554872 12477932;16344560 285180 C9J235;Q6ZNE9 ABBA01006023;ABBA01006024;ABBA01023877;AC010136;AC124768;AK128393;AK131246;AMYH02005783;AMYH02005784;AW452848;BC113712;BX641664;CH471063;DA958158;NM_198483;NR_034176;XM_006712453 AAI13713;ADR82969;BAC87417;EAW70588;NP_940885;Q6ZNE9;XP_006712516 Hs.570069 1768115;1778518;2135246 RH69171;SHGC-35278;STS-L19593 FLJ46536 OTTHUMP00000207524;RUN and FYVE domain-containing protein 4 protein-coding ENSG00000188282 HGNC:24804 13539 VALIDATED 1605704 RUNDC3A RUN domain containing 3A ENCODES a protein that exhibits guanylate cyclase activator activity (inferred); peptide hormone receptor binding (inferred); small GTPase regulator activity (inferred); INVOLVED IN positive regulation of cGMP biosynthetic process (inferred); positive regulation of guanylate cyclase activity (inferred); small GTPase mediated signal transduction (inferred); FOUND IN cytosol (inferred); plasma membrane (inferred); INTERACTS WITH 2-methylcholine; amiodarone; coumestrol 17 17 17 q21.31 39094632 39104744 + 42385786 42396039 + 44308418 44318671 + 6480464 12477932;16189514;16344560;16713569;17207965;8125298;8619474;9110174;9523700 10900 Q59EK9 AB209802;ABBA01028378;AC003043;AF055026;AK123330;AK226045;AK313669;AL133657;AMYH02033475;AMYH02033476;BC006194;BC013240;BX537443;CH471178;CR456748;DA299778;NM_001144825;NM_001144826;NM_006695;U93871;XM_005256963;XM_005256964;XR_243627 AAB68767;AAC09366;AAH06194;ADQ31763;BAD93039;BAG36421;CAB63771;CAD97685;CAG33029;EAW51608;EAW51609;EAW51610;EAW51611;EAW51612;NP_001138297;NP_001138298;NP_006686;Q59EK9;XP_005257020;XP_005257021 Hs.500197 1674294;1734462;1760169;1849288;2109775;2121176;2122770;5015961;5022322;5024761;5491264 A002T21;D11S2560;D15S1477;D17S1390E;D17S1429E;MARC_6791-6792:992007464:1;RH36905;RPIP8_9191;SHGC-132440;SHGC-31857;SHGC-31863 RAP2IP;RPIP-8;RPIP8 OTTHUMP00000240596;OTTHUMP00000240597;RUN domain-containing protein 3A;RaP2 interacting protein 8;rap2-interacting protein 8 protein-coding ENSG00000108309 HGNC:16984 16106 605448 VALIDATED 1344056 RUNX1-IT1 RUNX1 intronic transcript 1 (non-protein coding) FOUND IN cytosol; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; calcitriol 21 21 21 q22.12 21609739 21611240 - 36410222 36411723 - 35037925 35039426 - 6480464 10830953;12477932;14702039;16780588 80215 Q9H7H1 ABBA01057369;AF015262;AK024509;AMYH02037759;AW001989;BC117305;NG_011402;NR_026812 BAB14918;Q9H7H1 Hs.672131 2220590 UniSTS:485676 C21orf96;FLJ20856 APPROVED ncrna HGNC:16623 VALIDATED 1316714 RUNDC1 RUN domain containing 1 INTERACTS WITH 2-methylcholine; atrazine; formaldehyde 17 17 17 q21.31 37788833 37801969 + 41132527 41145713 + 42980510 42993696 + 737633;6480464 12477932 14702039;16751776;21963094;22505724;22797925 146923 K7EQS2;Q96C34 ABBA01006395;AC055866;AK055627;AL831813;AMYH02033445;AY189284;BC014873;BC039247;CA445450;CH471152;DC391927;DQ581830;NM_173079;XM_005257078;XM_005257079;XM_005257080 AAH14873;AAH39247;AAO86728;CAD38528;EAW60907;EAW60908;NP_775102;Q96C34;XP_005257135;XP_005257136;XP_005257137 Hs.632255 1689648;2148404;5014051;5015861;5020740;5022200;5022651;5037552;7185938 D10S16;D11S2921;D8S2278;D8S2279;L17809;L18426;RH47209;SHGC-32804 DKFZp761H0421 RUN domain-containing protein 1 protein-coding ENSG00000198863 HGNC:25418 15283 VALIDATED 1312074 RUFY2 RUN and FYVE domain containing 2 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; ethyl methanesulfonate; formaldehyde 10 10 10 q21.3 63377878 63442409 - 70100864 70167051 - 68341107 68407294 - 1580863;6480464;8554872 10819331;11877430;12477932;14702039;15164054;16344560;16385451;17207965;18029348;21900206;22505724;22797925 55680 H0YD93;Q5TC51;Q8WXA3;S4R3P2;X6R3F0 AB040970;ABBA01019562;ABBA01019563;ABBA01019564;ABBA01019565;AC016395;AF411980;AF461266;AK055646;AK091629;AK094214;AK127019;AK294211;AL136233;AMYH02023250;AMYH02023251;AMYH02023252;AY528716;BC020659;BC030097;BC041092;BC062660;BG681628;BM150360;BQ006812;CH471083;DA858392;NM_001042417;NM_001278225;NM_017987;NR_103475;NR_103476;XM_005269952;XM_005269953;XM_005269955;XM_005269956;XM_005269957;XM_005269959;XM_005269960;XM_006717911;XM_006717912;XR_246097 AAH41092;AAL04164;AAL67520;AAT44401;ADQ32994;BAA96061;BAG54424;BAG57521;EAW54290;EAW54291;EAW54292;EAW54293;EAW54294;EAW54295;NP_001035882;NP_001265154;NP_060457;Q8WXA3;XP_005270009;XP_005270010;XP_005270012;XP_005270013;XP_005270014;XP_005270016;XP_005270017;XP_006717974;XP_006717975 Hs.653144 1654729;1671917;1673063;1685241;2149800;2184226 D10S1858;RH11294;RH99237;WI-11265;WI-15945;WI-20727 FLJ10063;KIAA1537;RABIP4R;ZFYVE13 OTTHUMP00000019704;RUN and FYVE domain-containing 2;RUN and FYVE domain-containing protein 2;Run- and FYVE-domain containing protein;antigen MU-RMS-40.17;rab4-interacting protein related protein-coding ENSG00000204130 HGNC:19761 11526 610328 VALIDATED 1601714 RUNDC3B RUN domain containing 3B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 7 7 7 q21.12 81962343 82166173 + 87257729 87461613 + 87628413 87832298 + 6480464;8554872 12477932;12645870;12690205;14702039;15986426;19913121;20628086;21900206;22846052;24255178;24324551 154661 Q96NL0 ABBA01045864;ABBA01045865;ABBA01045866;AC002457;AC003083;AK055233;AK091536;AK293607;AK294039;AMYH02016218;AMYH02016219;AMYH02016220;AMYH02016221;AMYH02016222;AMYH02016223;AMYH02016224;AY033596;BC022520;CH236949;CH471091;DC304423;KF511050;NM_001134405;NM_001134406;NM_138290;XM_005250156;XM_005250157;XM_005250158 AAH22520;AAK52313;BAB70882;BAC03686;BAG57071;BAG57391;EAL24172;EAW76936;EAW76937;EAW76938;EAW76939;NP_001127877;NP_001127878;NP_612147;Q96NL0;XP_005250213;XP_005250214;XP_005250215 Hs.411488 1704274;1776871;2169371;2177344;2219650;5023733 AU048745;D7S1642;D7S2414;GDB:6028578;RPIB9__5525;SHGC-83275 FLJ30671;MGC26655;RPIB9;RPIP-9;RPIP9 OTTHUMP00000161662;OTTHUMP00000205532;OTTHUMP00000205533;RUN domain-containing protein 3B;Rap2 binding protein 9;Rap2-binding protein 9;Rap2-interacting protein 9 protein-coding ENSG00000105784 HGNC:30286 15274 VALIDATED 1349680 RUSC1 RUN and SH3 domain containing 1 ENCODES a protein that exhibits actin binding (ortholog); INVOLVED IN protein polyubiquitination; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; cytoplasmic vesicle (ortholog); early endosome (ortholog); INTERACTS WITH cyclosporin A; methyl methanesulfonate; 17alpha-ethynylestradiol (ortholog) 1 1 1 q21-q22 128363782 128374051 + 155290640 155300909 + 155320849 155331118 + 1580863;6480464;8554872 10760598;12477932;14702039;15024033;15146197;15489334;16303743;16344560;18029348;19365808;21139048;21832049;21906983;21963094;22404429;22821014 23623 B4DQB8;Q9BVN2 AB026894;ABBA01016710;ABBA01016711;AK055451;AK074485;AK074982;AK093777;AK125378;AK298730;AK307736;AK314559;AL080083;AL139410;AMYH02001943;BC001045;BC004293;BC025680;BC028055;BC052277;BC131492;BQ004124;BX402179;BX640612;CH471121;CN305634;CQ783792;CR749671;DA099897;DA131200;DA751328;NM_001105203;NM_001105204;NM_001105205;NM_001278227;NM_001278228;NM_001278229;NM_001278230;NM_014328;NR_103478;XM_006711254;XM_006711255;XM_006711256;XM_006711257;XM_006711258 AAH01045;AAH04293;AAH52277;ABM84548;ABM86311;BAA77507;BAG37144;BAG52045;BAG54191;BAG60880;CAB45702;CAE45718;CAF86864;CAH18462;EAW53069;EAW53070;EAW53071;EAW53072;NP_001098673;NP_001098674;NP_001098675;NP_001265156;NP_001265157;NP_001265158;NP_001265159;NP_055143;Q9BVN2;XP_006711317;XP_006711318;XP_006711319;XP_006711320;XP_006711321 Hs.226499 1683948;1684122;1684972;2109789;2145104;2170595;2180657;5124507 D15S1171;RH12028;RH68206;RH79692;RH91444;RUSC1_9384;SHGC-2651;SHGC-32326 DKFZp761A1822 NESCA;OTTHUMP00000015809;OTTHUMP00000015893;OTTHUMP00000015894;OTTHUMP00000015895;OTTHUMP00000015896;RUN and SH3 domain-containing protein 1;new molecule containing SH3 at the carboxy-terminus protein-coding ENSG00000160753 HGNC:17153 10206 VALIDATED 1603516 RUSC1-AS1 RUSC1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cadmium sulfate; cobalt dichloride; formaldehyde 1 1 1 q22 128363393 128367080 - 155290251 155293938 - 155320460 155324147 - 6480464;8554872 12477932;14702039;15489334;16710414 284618 Q66K80 ABBA01016711;AK093295;AK125510;AL139410;AMYH02001943;BC062571;BC080538;BC131614;NM_001039517 AAH62571;AAH80538;AAI31615;BAC04124;NP_001034606;Q66K80 Hs.650801;Hs.732744 1684122;1684972;2180657 D15S1171;RH68206;SHGC-2651 C1orf104;FLJ35976;RP11-21N7.3 RUSC1 antisense RNA 1 (non-protein coding);RUSC1 antisense gene protein 1;hypothetical protein LOC284618;putative uncharacterized protein RUSC1-AS1 APPROVED protein-coding HGNC:26680 08767 PROVISIONAL 1350261 RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] 8 8 8 q22 89157513 89293797 - 92967195 93115454 - 91954967 92103226 - 6480464;6907045;8554872 10076566;10675041;10688654;10861016;10882117;10951564;10973986;11090081;11113190;11150306;11533236;11591653;11593431;11869944;11983111;11986950;12242670;12393523;12427969;12460926;12477932;12557226;12773394;12874834;1391946;1423235;14551142;14702039;14703694;14751048;14982881;15109542;15203865;15295650;15298716;15333839;15377655;15489334;15676213;15723339;15735013;15829516;16189514;16227606;16344560;16502583;16616331;16652140;16713569;16741927;16892037;16966434;16990610;17058450;17244680;17284535;17353931;17389244;17560011;17572682;17625612;17649722;17875504;17989718;17996649;18039847;18073335;18156164;18183572;18205948;18258796;18332109;18519037;18548094;18586123;18687517;18952841;19001502;19043539;19100510;19179469;19289505;19448675;19458628;19581587;20090777;20211142;20430957;20487545;20603019;20688956;20708017;21200020;21245488;21499216;21540640;21571369;21764752;22025082;22101339;22201794;22343733;22498736;22995345;23223432;23426948;24402164;24456692;24616160;7541640;7774816;7919324;8137293;8334990;8353289;8575770;8619474;8781439;9110174;9618262;9632137;9661669;9790752;9819405 862 B2R6I9;E5RFQ3;E5RG85;E5RH30;E5RH72;E5RHJ8;E5RI38;E5RJ32;E5RJB3;E5RJE7;E5RK76;E7EQ59;E7EQI9;E7EQJ1;E7EQW3;E7EQW7;E7ERJ9;E7ESA9;E7ESL1;E7ETA8;E7EV92;E7EWJ9;E7EX23;E7EX26;H0YBA6;H0YC25;H0YC43;Q06455;W8FW32 AA506749;AB074982;ABBA01037421;ABBA01037422;ABBA01037423;AC103680;AC104339;AF018280;AF018282;AF018283;AF131817;AF181450;AF198490;AK057707;AK297616;AK312592;AL049240;AMYH02018406;AMYH02018407;AMYH02018408;BC005850;BC067078;BC139783;BT009871;CH471060;CR456792;D14289;D14821;D43638;DA499596;DA500281;DA503204;DA504975;DA770917;DA774453;DA776825;DA776968;DA777240;DA779230;DA787376;DA795825;DA796892;KF458797;KF946505;KF946506;KF946507;KF946508;KF946510;KF946511;KF946512;KF946513;KF946514;KF946515;KF946516;KF946517;KF946518;KF946520;KF946521;KF946522;KF946523;NG_023272;NM_001198625;NM_001198626;NM_001198627;NM_001198628;NM_001198629;NM_001198630;NM_001198631;NM_001198632;NM_001198633;NM_001198634;NM_001198679;NM_004349;NM_175634;NM_175635;NM_175636;S74096;X79990;XM_006716676 AAB32126;AAC26143;AAC28931;AAC28932;AAC28933;AAC28934;AAG33024;AAH05850;AAH67078;AAP88873;ADZ15496;AHK05721;AHK05722;AHK05723;AHK05724;AHK05726;AHK05727;AHK05728;AHK05729;AHK05730;AHK05731;AHK05732;AHK05733;AHK05734;AHK05736;AHK05737;AHK05738;AHK05739;BAA03247;BAA03558;BAA07755;BAB88555;BAG35486;BAH12630;CAA56311;CAG33073;EAW91681;EAW91682;EAW91683;EAW91684;EAW91685;EAW91686;NP_001185554;NP_001185555;NP_001185556;NP_001185557;NP_001185558;NP_001185559;NP_001185560;NP_001185561;NP_001185562;NP_001185563;NP_001185608;NP_004340;NP_783552;NP_783553;NP_783554;Q06455;XP_006716739 Hs.368431;Hs.739194 1335449;1652288;1665805;1667488;1671241;1672036;1673889;1676182;1709702;1717719;1718141;1742369;1788942;2119020;2135782;2146215;2161897;2170000;2180554;2180965;5016039;7186543 D8S1603;D8S1648;D8S1950;D8S1952;D8S270;G15975;G32207;GDB:196494;RH12051;RH121766;RH122838;RH45255;RH78563;RH80460;Runx1t1;SHGC-36696;SHGC-86338;STS-AA025270;UniSTS:225014;WI-13899;WI-17867 AML1T1;CBFA2T1;CDR;DKFZp564B213;ETO;FLJ33145;MGC2796;MTG8;MTG8b;ZMYND2 CBFA2T1 isoform r1t1-11a62;CBFA2T1 isoform r1t1-11a63;CBFA2T1 isoform r1t1-11a64;CBFA2T1 isoform r1t1-11a65;CBFA2T1 isoform r1t1-7a47;CBFA2T1 isoform r1t1-7a48;CBFA2T1 isoform r1t1-7a49;CBFA2T1 isoform r1t1-7a50;CBFA2T1 isoform r1t1-7a52;CBFA2T1 isoform r1t1-7d53;CBFA2T1 isoform r1t1-7d54;CBFA2T1 isoform r1t1-7d55;CBFA2T1 isoform r1t1-7d56;CBFA2T1 isoform r1t1-8a57;CBFA2T1 isoform r1t1-8a58;CBFA2T1 isoform r1t1-8a59;CBFA2T1 isoform r1t1-8a60;OTTHUMP00000225750;OTTHUMP00000225751;OTTHUMP00000225752;OTTHUMP00000225792;OTTHUMP00000225793;OTTHUMP00000225794;acute myelogenous leukemia 1 translocation 1, cyclin-D related;core-binding factor, runt domain, alpha subunit 2;core-binding factor, runt domain, alpha subunit 2, translocated to, 1;cyclin D-related;cyclin-D-related protein;eight twenty one protein;myeloid translocation gene on 8q22;translocated to, 1;zinc finger MYND domain-containing protein 2 APPROVED protein-coding ENSG00000079102 HGNC:1535 00590 133435 REVIEWED 1351530 RUNX3 runt-related transcription factor 3 This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36 23550687 23616186 - 25226002 25291648 - 24899511 24965115 - 1580863;2302556;2302137;2302552;2302557;2302553;2302554;2302551;2302555;2324957;2324955;2324956;2324958;6480464;5143919 15386381;15471559;16080503;16230397;16322555;16818622;18061509;18256927;18475302;18937968;19763613;19827872 10228168;10531362;11733147;11955451;12477932;12824905;12855590;12875960;12907736;14702039;14715269;14760761;15051926;15138260;15273736;15331439;15386419;15489334;15688019;15728469;15778373;15780064;15819721;15824739;16091737;16135801;16140942;16142337;16155404;16328045;16344560;16367921;16373335;16442267;16582583;16627973;16652147;16684349;16710414;16767156;16887969;16984612;17195845;17353931;17380460;17384682;17470130;17471240;17584746;17591800;17591929;17606310;17914577;17923751;17956589;18029348;18058463;18097595;18259121;18288406;18323800;18349282;18426645;18430739;18494051;18500170;18572225;18580070;18636364;18639281;18663147;18668679;18676844;18684727;18717361;18772112;18850007;18949360;18953836;19012242;19015875;19159630;19174785;19223906;19290488;19336521;19351720;19403666;19470943;19521519;19552756;19571605;19596937;19603429;19645591;19695681;19706291;19727221;19728008;19800882;19808967;19886737;19917773;19933870;20100835;20160714;20190752;20211142;20228843;20236534;20300977;20306685;20353948;20392673;20442291;20467438;20492341;20599712;20615577;20631058;20676134;20677014;20682997;20714105;20801098;20887385;20955380;21088106;21105967;21109941;21128246;21135153;21205092;21205319;21223798;21223819;21254652;21288908;21302620;21354923;21511279;21523770;21567090;21567391;21612813;21637926;21640801;21656750;21658745;21678419;21706051;21743469;21756810;21781566;21803306;21819494;21867527;21873791;21906983;21914347;21922326;21942099;21956756;22068036;22076387;22179198;22231444;22234069;22246363;22253448;22266963;22274925;22275124;22296371;22311819;22457727;22479382;22488108;22505724;22544322;22576578;22580604;22699781;22729835;22734230;22814793;22846564;22883670;23000965;23086478;23104301;23243425;23266558;23269881;23294722;23333304;23401011;23457532;23542169;23549984;23555166;23637848;23648294;23664167;23666463;23724145;23774402;23851507;23874686;23886181;23892093;23912048;23932924;23934435;23959374;24002642;24042352;24175838;24229708;24403453;24447505;24622886;24636883;7607690;7622058;7835892;8437866;9751710 864 Q13761 ABBA01059922;ABBA01059923;AF022726;AI375031;AJ001432;AJ238394;AK091829;AK300056;AK301044;AK310945;AL023096;AL445471;AMYH02000534;AMYH02000535;BC013362;CH471134;CQ834770;DA935726;FB571463;FB571465;HI574042;HI574044;NM_001031680;NM_004350;U14520;X79550;XM_005246024;XM_006711016;Z35278;Z38104;Z38108 AAA86465;AAB80759;AAH13362;BAG61865;BAG62657;CAA56093;CAA84541;CAB42882;CAH05600;CAR95149;CAR95150;CBX47510;CBX47511;EAW95147;EAW95148;EAW95149;NP_001026850;NP_004341;Q13761;XP_005246081;XP_006711079 Hs.170019 1664676;1715299;1733150;2180389 D1S1460;RH120480;RH70984;SHGC-74399 AML2;CBFA3;FLJ34510;MGC16070;PEBP2aC CBF-alpha-3;OTTHUMP00000003370;OTTHUMP00000003371;PEA2 alpha C;PEA2-alpha C;PEBP2 alpha C;PEBP2-alpha C;SL3-3 enhancer factor 1 alpha C subunit;SL3/AKV core-binding factor alpha C subunit;acute myeloid leukemia 2 protein;acute myeloid leukemia gene 2;core-binding factor subunit alpha-3;core-binding factor, runt domain, alpha subunit 3;oncogene AML-2;polyomavirus enhancer-binding protein 2 alpha C subunit;transcription factor AML2 APPROVED protein-coding ENSG00000020633 HGNC:10473 02565 600210 REVIEWED 6481294 RUVBL1-AS1 RUVBL1 antisense RNA 1 q21.3 16344560 100874089 AC011311;DA337460;NR_046645 Hs.581603 APPROVED ncrna HGNC:40514 VALIDATED 1346086 RVNP2 retroviral sequences NP2 3600636 6255 M15971 protein-coding HGNC:10476 68537 RUVBL1 RuvB-like AAA ATPase 1 ENCODES a protein that exhibits DNA helicase activity; INVOLVED IN DNA duplex unwinding; histone H2A acetylation; histone H4 acetylation; PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; Wnt signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; Golgi apparatus; INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; arsenous acid 3 3 3 q21 126230848 126272604 - 127799800 127872752 - 128080957 128153909 - 1580863;6480464;6907045;9495926;8554872 21502417 10428817;10524211;10882073;10902922;10966108;11027681;11080158;11509179;11827452;11839798;12477932;12963728;14506706;14615539;14675489;14695187;14702039;14966270;15196461;15489334;15635413;15647280;15829968;15960975;16014379;1602151;16055720;16169070;16196087;16230350;16344560;16387653;16510874;16510875;17060327;17148452;17157868;17314511;17342744;17353931;17573780;17636026;17643375;17721549;17725712;17761535;18026119;18029348;18087039;18218781;18285460;18358808;18457437;18463163;18548265;18765919;18834951;18922472;19048121;19270026;19299493;19380743;19394292;19410544;19433865;19450687;19454010;19471022;19524533;19620283;19805454;19845771;19877184;20080577;20130364;20211142;20332121;20360068;20371770;20412048;20473970;20603076;20635389;20800578;20801936;21081666;21110914;21139048;21145461;21182205;21303910;21320693;21532573;21549307;21617703;21825155;21890473;21900206;21906983;21907836;21933716;21963094;22079093;22174317;22190034;22268729;22337587;22412018;22467210;22544753;22797925;22863883;22895545;22923768;22939629;22952844;23000965;23002137;23349634;23398456;23443559;23658844;23824326;23878400;24023044;24244333;24342949;24457600;24654937;24816145;25036637;8125298;9196036;9588198;9774387;9813143;9843967 8607 E7ETR0;H7C4G5;H7C4I3;J3QLR1;Q9Y265 AB012122;AB451224;AB451347;ABBA01020888;ABBA01020889;AC069419;AF070735;AF099084;AF380344;AJ010058;AK092163;AK222563;AK222575;AK312290;AL449214;AMYH02007613;AMYH02007614;AW069473;BC002993;BC012886;BT007057;CH471052;DA530328;DQ469310;NM_003707;XM_005247841;Y18418 AAC77819;AAD04427;AAH02993;AAH12886;AAM45570;AAP35706;ABF13334;ABM82374;ABM85553;BAA28169;BAD96283;BAD96295;BAG35217;BAG52489;BAG70038;BAG70161;CAA08986;CAB46271;EAW79323;NP_003698;Q9Y265;XP_005247898 Hs.272822 1683609;1793652;2108433;2166099 D3S4244;PMC24527P1;RH26475;RUVBL1_8836 ECP-54;ECP54;INO80H;NMP 238;NMP238;Pontin52;RVB1;TAP54-alpha;TIH1;TIP49;TIP49A 49 kDa TATA box-binding protein-interacting protein;49 kDa TBP-interacting protein;54 kDa erythrocyte cytosolic protein;INO80 complex subunit H;OTTHUMP00000216127;OTTHUMP00000216128;RuvB (E coli homolog)-like 1;TATA binding protein interacting protein 49 kDa;TIP60-associated protein 54-alpha;nuclear matrix protein 238;pontin;pontin 52;ruvB-like 1;ruvb-like protein 1 APPROVED protein-coding ENSG00000175792 HGNC:10474 09143 603449 VALIDATED 1354057 RWDD1P1 RWD domain containing 1 pseudogene 1 15 15 q25.1 78674915 78675542 + 78382573 78383200 + 404551 ABBA01060584;AC011270;AMYH02030863;NG_028864 pseudo HGNC:31055 INFERRED 1348975 RUNX2 runt-related transcription factor 2 This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2008] 6 6 6 p21 46849063 47071816 + 45296054 45518819 + 45328317 45551082 + 1580863;1601649;2302137;6480464;6484113;7240710;5143919;8554872;8699517 16322555;18061509;9182765 10228168;10330183;10521292;10521447;10531362;10545612;10689183;10699973;10911365;10962029;10980549;11274169;11641401;11668178;11683913;11768584;11857736;11965546;11968014;11979975;12060751;12081718;12088880;12112004;12145306;12145308;12145311;12162506;12196916;12217689;12231506;12270142;12391164;12393937;12434156;12477932;12551949;12554794;12568398;12615658;12631081;12674332;12697832;12732182;12746842;12750290;12815605;14523023;14574404;14639470;14671302;14739291;15051730;15146197;15150273;15193550;15225881;15231660;15262978;15273700;15292260;15304489;15331439;15389579;15476590;15537544;15583032;15623533;15665096;15725473;15750689;15798204;15838892;15864279;15933061;15990875;16079911;16110492;16166639;16187316;16195230;16198163;16208410;16222673;16237704;16244783;16270353;16299379;16407259;16418782;16421932;16442859;16463420;16467978;16476422;16598384;16613856;16728531;16728642;17000892;17042739;17171635;17215250;17251981;17350616;17352650;17360627;17379770;17387386;17434448;17438369;17522365;17702747;17878995;17956871;17973689;17981598;17997710;18029348;18082140;18160010;18166138;18171674;18223689;18316777;18319563;18321663;18357615;18373722;18381576;18391951;18438928;18442887;18482578;18541707;18553107;18653765;18688176;18759297;18777095;18829486;18829534;18931939;18986983;19017541;19020999;19116917;19147956;19259136;19342447;19383984;19389811;19422937;19424741;19453261;19453496;19509141;19509297;19515746;19585539;19594294;19595020;19631773;19632824;19649655;19690135;19734454;19739101;19744171;19767586;19801668;19880526;19915614;19949374;20007706;20053387;20073986;20082269;20082326;20097749;20160071;20196777;20200969;20225274;20301686;20306685;20376792;20379614;20407796;20433876;20465837;20525800;20530675;20560987;20564243;20593410;20634891;20648631;20665663;20683987;20702542;20721706;20738756;20740684;20851880;20863401;20872798;20946121;21040462;21078438;21088106;21121067;21131390;21215027;21236710;21302301;21402695;21505104;21520068;21542013;21558934;21559363;21600649;21604327;21649908;21674037;21713451;21777514;21809344;21885439;21906983;21907184;21913213;21931630;21972143;21986102;22023169;22032690;22095611;22095691;22102412;22139789;22147940;22158061;22158627;22173721;22189971;22194205;22241686;22260235;22351759;22389001;22393235;22396198;22407027;22493443;22505724;22511796;22537242;22634173;22641097;22699663;22750373;22821892;22869368;22890388;22903460;22912713;22949168;22966907;23000965;23093845;23186169;23290074;23321257;23322705;23333304;23348269;23364519;23376464;23380982;23389849;23403054;23438432;23471668;23618908;23659235;23720736;23763516;23918955;23933319;24038414;24069422;24086263;24222232;24250222;24279306;24330824;24339730;24387671;24509851;24515112;24613919;24648349;24657655;25119901;7717404;7835892;8341710;8362902;9119228;9182762;9182764;9207800;9233771;9434946;9651525;9794229 860 F8W8U5;I3L0L0;I3L354;I3L4L9;Q13950;Q32MY8 ABBA01050629;ABBA01050630;ABBA01050631;AF001443;AF001444;AF001445;AF001446;AF001447;AF001448;AF001449;AF001450;AF053949;AF053952;AF087960;AL096865;AL161907;AL353944;AL358135;AL513219;AMYH02013678;AW469546;AY406695;BC108919;BC108920;BX108677;CD001961;CH471081;CN431726;DR005078;KF458161;L40992;NG_008020;NM_001015051;NM_001024630;NM_001278478;NR_103532;NR_103533;XM_006715231;XM_006715232;XM_006715233;XM_006715234 AAA89072;AAB65158;AAB65159;AAC77441;AAC78624;AAI08920;AAI08921;AAI60022;EAX04277;EAX04278;EAX04279;EAX04280;EAX04281;EAX04282;NP_001015051;NP_001019801;NP_001265407;Q13950;XP_006715294;XP_006715295;XP_006715296;XP_006715297 Hs.535845 1657941;1660768;1669860;1713705;1752821;1752969;1762367;1780478;1792412;1792658;1797226;2114346;2121365;2147987;2152951 D6S1460;PMC150810P1;PMC156282P1;RH120734;RH16435;RH37568;RH77889;Runx2;SHGC-106694;SHGC-106818;SHGC-146198;SHGC-56456;SHGC-56693;WI-17995;stbA90G6T7 AML3;CBF-alpha-1;CBFA1;CCD;CCD1;CLCD;MGC120022;MGC120023;OSF-2;OSF2;PEA2aA;PEBP2A1;PEBP2A2;PEBP2aA;PEBP2aA1 CBF-alpha 1;OTTHUMP00000016533;OTTHUMP00000016534;OTTHUMP00000016535;PEA2-alpha A;PEBP2-alpha A;SL3-3 enhancer factor 1 alpha A subunit;SL3/AKV core-binding factor alpha A subunit;acute myeloid leukemia 3 protein;core-binding factor subunit alpha-1;core-binding factor, runt domain, alpha subunit 1;oncogene AML-3;osteoblast-specific transcription factor 2;polyomavirus enhancer binding protein 2 alpha A subunit;polyomavirus enhancer-binding protein 2 alpha A subunit 1643399 BMD5_H APPROVED protein-coding ENSG00000124813 HGNC:10472 02566 119600;156510;600211 REVIEWED 1343850 RWDD1P3 RWD domain containing 1 pseudogene 3 12 12 12 q21.2 76816657 76817556 + 77150878 77151865 + 76757098 76758093 + 727789 ABBA01053541;AC093014;AMYH02026788;NG_008052 1690894 RH80029 RWDD1L1 APPROVED pseudo HGNC:31794 INFERRED 1314728 RWDD2A RWD domain containing 2A INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; copper(2+) sulfate 6 6 6 q14.2 84336338 84339562 + 83903032 83908654 + 83193313 83198935 + 6480464 12477932;14574404;15489334;7829101 112611 Q9UIY3 ABBA01040449;AJ420581;AK295724;AK302978;AK309249;AK313083;AL049699;AMYH02014012;AW023870;BC010930;BC034826;BC104816;BC112003;CH471051;DC377982;NG_034146;NM_033411;XM_005248648;XM_006715323;XM_006715324 AAH10930;AAI04817;AAI12004;ABM83592;ABM87092;BAG35909;BAG58565;BAG64121;EAW48665;EAW48666;NP_219479;Q9UIY3;XP_005248705;XP_006715386;XP_006715387 Hs.423336;Hs.709686 2174543 WI-12506 MGC13523;MGC138208;RWDD2;dJ747H23.2 OTTHUMP00000016790;RWD domain containing 2;RWD domain-containing protein 2A protein-coding HGNC:21385 15287 VALIDATED 4144955 RWDD4P1 RWD domain containing 4 pseudogene 1 7 7 7 99747573 99748134 + 104941969 104942530 + 105301522 105302083 + 100419903 ABBA01057956;AC004884;AMYH02016473;CH236947;NG_026613 FAM28BP pseudo HGNC:23753 INFERRED 1605847 RWDD4 RWD domain containing 4 INTERACTS WITH atrazine; copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 q35.1 181893096 181913435 - 184560789 184580331 - 183639636 183659219 - 6480464 12477932;14702039;15489334;15815621;16189514;17207965;19322201;21139048;21145461;22939629;22990118;24816145;9847074 201965 D6R9C7;D6RCM5;D6RDH6;E7EV43;K4DI92;Q6NW29 ABBA01070506;AC108477;AK021702;AK293274;AK315515;AMYH02010640;BC017472;BC067752;BC107432;CH471056;DB530118;NM_152682;XM_006714132;XM_006714133;XM_006714134 AAH17472;AAH67752;AAI07433;ADQ31973;BAG37896;BAG56803;EAX04688;NP_689895;Q6NW29;XP_006714195;XP_006714196;XP_006714197 Hs.133337 1686871;1689195;1721923;2167082 G59994;RH36484;RH98944;SHGC-67782 FAM28A;MGC10198;RWDD4A OTTHUMP00000218626;OTTHUMP00000218681;RWD domain containing 4A;RWD domain-containing protein 4;RWD domain-containing protein 4A;family with sequence similarity 28, member A APPROVED protein-coding ENSG00000182552 HGNC:23750 14393 VALIDATED 1314557 RWDD3 RWD domain containing 3 INVOLVED IN negative regulation of NF-kappaB transcription factor activity; positive regulation of hypoxia-inducible factor-1alpha signaling pathway; positive regulation of protein sumoylation; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; cyclosporin A 1 1 1 p21.3 93954133 93967204 + 95699711 95712781 + 95234155 95247225 + 6480464 11076863;11230166;12477932;15146197;15489334;15489336;16381901;16710414;17956732;19407504;21139048;22009797;22877241;23362303;23469069;23508108;7566098 25950 D3DT49;Q9Y3V2 AA336253;AA336662;AA825527;ABBA01045499;AC092802;AK292665;AK292699;AK296476;AL050062;AMYH02001515;AMYH02001516;BC010936;BC016307;BC065813;BC125142;BU858771;BX537497;BX648581;CA454169;CH471097;CN306675;CR533493;DC409838;NM_001128142;NM_001199682;NM_001278247;NM_001278248;NM_015485;NR_103483;NR_103484 AAI25143;BAF85354;BAF85388;BAG59117;CAB43254;CAG38524;CAL37651;CAL38135;EAW73019;EAW73020;EAW73021;EAW73022;EAW73023;NP_001121614;NP_001186611;NP_001265176;NP_001265177;NP_056300;Q9Y3V2 Hs.483512;Hs.709591 1692502;1770275;2109791;2134590;2149704 AL009789;AL033903;RH68937;RWDD3_9436;SHGC-75187 DKFZp566K023;FLJ51225 OTTHUMP00000012585;OTTHUMP00000012586;RSUME;RWD domain-containing protein 3;RWD-containing sumoylation enhancer protein-coding ENSG00000122481 HGNC:21393 11527 615875 VALIDATED 1351272 RUSC2 RUN and SH3 domain containing 2 This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012] 9 9 9 p13.3 35421999 35495454 + 35490007 35561895 + 35489838 35561898 + 6480464;8554872 12477932;15375525;15489334;15796781;16169070;16344560;17081983;17137291;18187620;19056867;20029029;21737958;21963094;21988832;22745667;24664538;9205841 9853 Q8N2Y8 AB002373;ABBA01064991;ABBA01064992;AI818507;AK299805;AL133476;AMYH02019459;AMYH02019460;AMYH02019461;BC029647;BC064843;BC082245;BC132766;BC132770;BC146654;BC150211;BC150262;BX647690;CH471071;DA185385;DB458531;DB460837;NM_001135999;NM_014806;NR_052015;XM_006716896 AAH29647;AAH64843;AAH82245;AAI32767;AAI32771;AAI46655;AAI50263;BAA20830;BAG61680;EAW58377;NP_001129471;NP_055621;Q8N2Y8;XP_006716959 Hs.493796 1652385;2107559;2157817 HSC03D022;RUSC2__6898;WI-14686 KIAA0375 OTTHUMP00000021331;RUN and SH3 domain-containing protein 2;interacting protein of Rab1;iporin APPROVED protein-coding ENSG00000198853 HGNC:23625 18009 611053 REVIEWED 1312868 RWDD2B RWD domain containing 2B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; cobalt dichloride; copper(2+) sulfate 21 21 21 q22.11 15560812 15575163 - 30378080 30391685 - 29004778 29019364 - 6480464;8554872 10729227;10830953;12477932;14702039;15489334;16169070;16189514;17207965;20494980;21139048;21832049;21900206;23602568;24250222;8125298 10069 P57060;Q53FD2 ABBA01057247;AF129075;AF212232;AK000056;AK223357;AL163249;AL355726;AL355727;AMYH02037688;AMYH02037689;BC012546;BC017912;CH471079;NM_016940;XM_006723952;Y19009 AAH12546;AAH17912;AAK14918;ADQ32121;BAA90913;BAD97077;CAB88085;CAB90431;EAX09930;EAX09931;EAX09932;NP_058636;P57060;XP_006724015 Hs.713123 1700206;2142596;2178540;5125658 RH103719;RH41866;RH69471;SHGC-87535 C21orf6;GL011 OTTHUMP00000096475;RWD domain-containing protein 2B protein-coding HGNC:1302 10757 VALIDATED 4144515 RWDD4P2 RWD domain containing 4 pseudogene 2 7 7 7 p14.1 39880501 39883064 - 39892296 39894859 - 39852697 39855260 - 9847074 647009 ABBA01058145;AC004987;AC093081;AMYH02015569;CH236951;NG_005562 AAQ96848 1686871;1689195 RH98944;SHGC-67782 FAM28CP pseudo HGNC:23754 INFERRED 736526 RUNX1 runt-related transcription factor 1 Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 21359674 21621110 - 36160098 36421595 - 34787801 35049334 - 1580863;2303708;2302137;6480464;6482840;1304428;6482837;6482829;6482832;6482833;6482836;6482828;6482827;6482839;6482834;6482826;6482835;6907045;7240710;5143919;8554872;8699517 12560229;12760263;12937148;16322555;16821265;17845203;18000159;18061509;18087673;18328148;20018071;20946940;21803869;21822204;22216140;22551552 10068652;10207087;10228168;10404214;10455134;10508512;10521447;10531362;10545320;10675041;10713153;10825294;10830953;10856244;10882117;11118213;11203699;11274169;11276260;11641401;11742995;11792409;11830488;11921279;11965546;11979742;11986950;12002768;12060124;12072207;12082641;12091359;12200707;12217689;12352981;12356919;12377125;12393286;12393523;12393679;12460926;12477932;12495904;12496475;12526921;12554803;12555067;12557226;12576332;12604126;12643014;12699896;12773394;12874780;12917624;1423235;1427868;14523475;14525764;14561740;14562119;14615365;14623259;14702039;14703694;14729951;14747476;14752096;14966519;14970218;15051730;15061191;15104277;15104290;15142876;15142881;15179033;15184985;15203865;15302935;15331439;15333839;15339695;15386419;15475366;15489901;1560822;15613106;15618958;15654961;15688019;15704129;15705784;15723339;15728845;15735013;15741216;15829516;15856017;15897867;15914564;15968309;15970674;15991223;16042694;16046550;16102112;16149049;16177090;16213368;16237704;16249223;16278392;16287839;16307024;16314494;16386788;16442267;16474840;16519819;16598304;16616331;16627249;16628190;16652140;16652147;16652416;16673018;16674921;16684349;16702405;16741927;16803898;16888092;16892559;16914570;16917507;16964375;17015828;17017876;17043020;17072347;17079875;17095626;1720541;17213321;17234761;17285576;17377532;17394134;17431401;17485549;17532767;17533375;17550866;17560011;17560331;17589498;17625612;17635584;17650443;17673463;17684492;17690704;17854666;17889709;17889714;17894555;17910630;17935781;17956600;17975013;17989718;17996649;18003885;18029348;18073335;18166807;18183572;18192504;18202228;18202291;18206538;18206548;18276842;18280240;18316480;18332109;18337762;18445843;18462252;18478040;18487507;18511808;18519037;18539581;18548094;18622412;18635414;18656694;18663147;18668679;18671852;18687517;18687690;18695000;18701449;18723428;18724045;18728978;18767145;18767146;18768464;18790797;18853425;18925961;18928518;18952841;19001502;19020999;19043539;19100510;19100516;19114653;19129484;19144660;19151769;19158815;19167608;19179469;19282830;19322201;19322702;19328795;19334039;19337732;19351817;19357396;19387465;19403666;19448675;19453261;19454010;19458628;19494111;19497860;19524548;19581587;19585539;19603429;19626042;19638627;19665068;19666867;19773259;19808697;19850737;19896186;19913121;19917773;19946261;19998443;20001241;20008790;20030931;20035012;20111069;20124335;20181616;20190817;20195544;20197715;20206228;20236534;20306249;20306685;20308320;20339092;20346360;20379614;20395453;20421268;20430957;20439113;20460523;20506188;20520634;20520637;20547749;20589720;20603019;20628086;20678218;20682397;20686504;20688956;20722699;20735389;20807887;20846103;20855863;20880116;20970160;21029724;21054152;21057539;21059642;21070662;21076613;21088106;21090242;21109770;21129147;21139048;21148331;21150319;21166663;21200020;21204219;21224468;21233836;21252065;21268063;21283084;21292764;21294243;21322790;21325596;21332713;21343560;21380778;21445863;21447743;21468021;21493867;21518930;21571218;21576367;21640801;21642993;21723253;21725049;21764752;21799513;21828118;21829377;21836606;21836608;21869842;21873977;21890473;21900195;22012064;22021368;22024923;22025082;22028862;22032690;22076464;22081516;22094587;22145956;22163048;22193545;22201794;22221250;22253733;22318203;22343733;22366949;22404039;22419089;22430633;22498736;22505724;22542470;22673192;22689058;22689681;22725134;22748822;22753902;22777353;22828445;22865593;22898599;22919028;22995345;23000965;23022380;23028138;23034403;23065512;23086478;23148227;23175372;23223432;23254331;23321257;23327922;23333304;23341344;23350231;23352661;23372166;23426948;23442798;23443342;23471304;23488608;23527860;23528260;23551011;23667531;23741012;23752268;23753029;23848403;23874874;23958918;23979164;24002588;24007691;24035334;24055056;24100448;24130502;24240203;24297870;24321385;24327541;24339741;24388988;24390342;24402164;24449215;24456692;24523240;24616160;24673627;24792891;24816145;7533526;7541640;7651838;7761424;7780150;7795214;7835892;7862156;7891692;7919324;8313895;8334990;8353289;8395054;8413232;8490181;8565077;8622667;8622955;8634147;8700862;8889548;9119228;9199349;9447981;9751710 861 A8MZI9;C9JWM1;H9KVB1;Q01196;V9GYT3;V9GYT5 AA878154;ABBA01057369;AF015262;AF025841;AJ229043;AK226159;AK310587;AL581043;AMYH02037758;AMYH02037759;AP000330;AP000331;AP000332;AP000333;AP000334;AV761975;BC050363;BC110828;BC136380;BC136381;BC144053;BM149149;BX475024;CA503244;CD638998;CH471079;D10570;D43967;D43968;D43969;D89788;D89789;D89790;KC877878;KF457236;KF457239;KF457240;KF457241;KF457242;KF457244;L34598;NG_011402;NM_001001890;NM_001122607;NM_001754;S60998;S76345;S76346;S76350;U19601;X79549;X90976;X90977;X90979;XM_005261068;XM_005261069 AAA51720;AAB33729;AAB33730;AAB33731;AAB51691;AAC05246;AAC05247;AAI10829;AAI36381;AAI36382;AAI44054;BAA01426;BAA07902;BAA07903;BAA07904;BAA14020;BAA14021;BAA14022;CAA13070;CAA56092;CAA62464;CAA62466;EAX09769;EAX09770;NP_001001890;NP_001116079;NP_001745;Q01196;XP_005261125;XP_005261126 Hs.149261;Hs.612648 1336997;1340372;1674019;1677660;1680665;1689662;1690137;1690380;1695940;1696650;1723315;1730660;1730859;1734378;1741805;1759885;1793086;2116365;2135020;2136897;2152760;2163890;2180890;2184445;2186958;2218598;2220590 D21S1706;D21S1895;D21S1921;D21S1969;D21S326;D21S393;G34658;G34720;GDB:185177;PMC19472P9;RH118473;RH27207;RH81059;RH92717;RH98631;RUNX1_4181;SHGC-170125;SHGC-51918;SHGC-52097;SHGC-52137;SHGC-6871;SHGC-6907;SHGC-78899;SHGC-82960;SHGC-87606;SHGC-87612;UniSTS:485676 AML1;AML1-EVI-1;AMLCR1;CBFA2;EVI-1;PEBP2aB AML1-EVI-1 fusion protein;CBF-alpha-2;OTTHUMP00000108696;OTTHUMP00000108697;OTTHUMP00000108699;OTTHUMP00000108700;OTTHUMP00000108702;PEA2-alpha B;PEBP2-alpha B;SL3-3 enhancer factor 1 alpha B subunit;SL3/AKV core-binding factor alpha B subunit;acute myeloid leukemia 1 protein;aml1 oncogene;core-binding factor subunit alpha-2;core-binding factor, runt domain, alpha subunit 2;oncogene AML-1;polyomavirus enhancer-binding protein 2 alpha B subunit;runt related transcription factor 1 APPROVED protein-coding ENSG00000159216 HGNC:10471 01043 151385;601399;601626 REVIEWED 1352408 RXFP3 relaxin/insulin-like family peptide receptor 3 ENCODES a protein that exhibits G-protein coupled peptide receptor activity (inferred); G-protein coupled receptor activity (inferred); INVOLVED IN positive regulation of cytokinesis; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH arsenite(3-); atrazine; paracetamol 5 5 5 p15.1-p14 33824981 33827513 + 33936491 33939023 + 33936386 33938918 + 1580863;6480464;8554872 10806363;12477932;14522968;15465925;15489334;15956688;15956730;16507880;18434306;18582868;19152634;20159943;20211485;21832049;22257012;22347403;2834384 51289 Q502V2;Q9NSD7 ABBA01066761;AC139777;AMYH02011144;AY236541;AY394501;BC095526;BC113438;BC113440;CH471118;D88437;NM_016568 AAH95526;AAI13439;AAI13441;AAO92063;AAQ92315;ACE86658;ACE87340;ADR83197;BAA93001;EAX10810;NP_057652;Q9NSD7 Hs.170146 5492937 UniSTS:483288 GPCR135;MGC141998;MGC142000;RLN3R1;RXFPR3;SALPR G-protein coupled receptor GPCR135;G-protein coupled receptor SALPR;OTTHUMP00000115853;RLN3 receptor 1;g protein-coupled receptor SALPR;relaxin 3 receptor 1;relaxin family peptide receptor 3;relaxin-3 receptor 1;somatostatin and angiotensin-like peptide receptor;somatostatin- and angiotensin-like peptide receptor protein-coding HGNC:24883 17979 609445 VALIDATED 1351067 RXFP1 relaxin/insulin-like family peptide receptor 1 This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 4 4 4 q32.1 156783607 156914284 + 159442866 159574524 + 158521714 158653372 + 1580863;6480464;8554872 10935549;11517286;11809971;12036966;12477932;12506116;14522968;14633277;14702039;14742692;15240635;15465925;15566402;15649866;15695505;15722441;15956684;15956688;15956698;15956719;16051677;16303766;16344560;16507880;16963451;17148455;17158203;18079195;18434306;18533687;18723073;18843967;19116340;19279230;19416160;19416161;19416162;19416175;19416177;19416186;19416214;19416222;19416223;19712722;19913121;20655530;20664520;21324453;22180889;22257012;22737225;22973049;23024363;23043266;23212924;23302396;23926099;24640555;24640556;24640558;24797570 59350 B3KV27;B4DGP2;E9PCA3;E9PIF0;Q59H16;Q9HBX9 AB208943;ABBA01070207;ABBA01070208;AC019341;AC107219;AC108017;AC121161;AF190500;AI653269;AK122647;AK294694;AK295040;AK300379;AK307889;AK312470;AMYH02010373;AMYH02010374;AY899848;AY899849;AY899850;BC112142;BC113617;BC143556;BC143557;BC143558;BC143559;BX647975;BX647980;BX647985;CH471056;CR748189;DA156504;DA241507;DA308373;DA519897;DC334052;KF457826;NG_031835;NM_001253727;NM_001253728;NM_001253729;NM_001253730;NM_001253732;NM_001253733;NM_021634;NR_045579;NR_045580;NR_045581;NR_045582;NR_045583;NR_045584 AAG17167;AAI12143;AAI13618;AAX85196;AAX85197;AAX85198;AAY41039;ADR83250;BAD92180;BAG53639;BAG57853;BAG58092;BAG62114;EAX04856;EAX04857;NP_001240656;NP_001240657;NP_001240658;NP_001240659;NP_001240661;NP_001240662;NP_067647;Q9HBX9 Hs.591686 1724867;1763559;1778135;1847716;1852516;2134910;2148814;2162804 D4S1266;D4S3351;D4S3354;D4S510;RH119197;SHGC-147262;SHGC-50975;SHGC-67714 LGR7;LGR7.1;LGR7.10;LGR7.2;MGC138347;MGC142177;RXFPR1 OTTHUMP00000195686;OTTHUMP00000195687;OTTHUMP00000195688;OTTHUMP00000220567;leucine-rich repeat-containing G protein-coupled receptor 7;leucine-rich repeat-containing G-protein coupled receptor 7;relaxin family peptide receptor 1;relaxin receptor 1 APPROVED protein-coding ENSG00000171509 HGNC:19718 05975 606654 REVIEWED 1348831 RXFP4 relaxin/insulin-like family peptide receptor 4 GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008] 1 1 1 q22 128984365 128985510 + 155911480 155912625 + 155941689 155942834 + 12044878;12477932;14522967;14530218;14623098;15465925;15489334;15525639;15956688;16507880;16710414;18577758;18582868;24802387;25043977;2834384 339403 Q8TDU9 AB065617;AB083593;ABBA01016680;AL355388;AMYH02001956;AX148192;AY170824;AY288415;AY394502;BC101507;BC101509;CH471121;DN693323;EU432129;NM_181885 AAI01508;AAI01510;AAO17676;AAP72124;AAQ92316;ABY87928;BAB89306;BAC05844;EAW53020;NP_871001;Q8TDU9 Hs.449914 2217374;5492919 GPR100_3738;UniSTS:483228 GPCR142;GPR100;MGC126556;MGC126558;RLN3R2;RXFPR4 G protein-coupled receptor 100;G-protein coupled receptor 100;G-protein coupled receptor GPCR142;OTTHUMP00000018853;RLN3 receptor 2;insulin-like peptide INSL5 receptor;relaxin 3 receptor 2;relaxin family peptide receptor 4;relaxin-3 receptor 2 APPROVED protein-coding ENSG00000173080 HGNC:14666 16421 609043 VALIDATED 732573 RWDD1 RWD domain containing 1 INTERACTS WITH cobalt dichloride; copper(2+) sulfate; cytarabine 6 6 6 q13-q22.33 117635653 117657505 + 116892583 116914438 + 116571367 116593601 + 6480464 10810093;12477932;14574404;15146197;15489334;15676025;16189514;18978678;21890473;22939629;8889548 51389 E5RGQ3;E5RGS5;E5RJE3;Q9H446 ABBA01026045;AF092134;AF132958;AI129713;AK290727;AK301089;AL121953;AMYH02014354;BC008693;BC012534;BC015802;BQ001584;CA422968;CF128570;CH471051;CK817864;CN363729;NM_001007464;NM_015952;NM_016104 AAD27733;AAD40376;AAH15802;ABM83361;ABM83362;ABM83363;ABM86573;BAF83416;BAG62691;EAW48221;EAW48222;NP_001007465;NP_057036;NP_057188;Q9H446 Hs.532164 1690894 RH80029 CGI-24;PTD013 DRG family-regulatory protein 2;OTTHUMP00000017066;OTTHUMP00000227336;RWD domain-containing protein 1;small androgen receptor-interacting protein protein-coding ENSG00000111832 HGNC:20993 15286 VALIDATED 736929 RXRA retinoid X receptor, alpha Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] 9 9 9 q34.3 107734128 107848213 + 137218316 137332431 + 134326470 134440585 + 1643104;1643105;1643109;1643108;1643114;1643115;1580863;1643106;1643107;2317461;2317465;2317466;2317462;6480464;6484675;6484731;6907045 15318950;15566521;15936932;16344269;16782282;17132853;17270546;17320364;17483744;17786350;19008781;19152448;19396032;19791468 10037600;10075655;10082530;10082574;10195690;10224118;10318855;10347167;10361124;10383413;10393239;10428834;10428836;10480874;10490654;10517671;10567404;10594021;10610177;10611353;10694476;10698945;10733574;10748178;10786636;10854698;10866662;10872826;10874028;10882070;10882139;10908304;10935544;11014615;11027271;11075811;11117530;11124027;11149488;11158331;11259580;11439184;11450851;11514567;11641790;11714715;11739747;11773444;11839661;11851396;11855864;11915042;11929748;11972046;11981034;12037571;12039952;12040021;12048211;12052862;12097375;12117567;12130689;12145331;12198243;12235159;12297106;12393611;12477932;12485829;12511607;12514092;12549917;12562861;12576329;12665583;12757020;12771132;12796488;12847098;12874288;12914524;12943985;12966085;12969790;1310260;1310351;1311101;1314167;1331778;14578865;14671211;14701856;14705796;14726489;14738865;14761960;14980220;14981089;15006913;15047147;15073272;15082790;15116119;15131121;15140878;15171703;15231748;15254248;15255287;15285879;15302918;15494375;15509776;15528208;15544927;15604093;15608692;15635645;15647825;15657427;15698583;15774904;15805579;15829977;15863722;15890193;15941852;16169070;16357103;16494845;1651173;16517099;16540467;16554032;16574651;16750418;16778766;16806672;16912044;17008383;17018855;17038419;17170071;17195188;17272513;17272748;17341859;17351148;17363140;17426122;17433303;17451432;17500032;17538076;17641689;17761950;17786964;17900311;17905826;18003614;18162523;18206668;18217139;18234786;18239067;18270252;18362166;18375961;18511497;18607089;18634911;18660489;18676680;18761406;18840407;18957410;19043829;19046432;19070893;19144697;19170196;19211732;19255064;19258929;19279199;19345331;19374686;19422879;19442374;19453261;19625176;19682433;19692168;19692572;19753122;19786558;19883617;19888660;19902255;19913121;19915048;19917671;19965660;20070029;20133893;20145122;20176747;20306291;20307661;20354914;20364085;20371703;20379614;20398753;20404925;20541701;20558521;20564192;20602615;20628086;20819778;20855565;20861222;20947021;21049972;21053424;21135166;21284483;21349840;21355951;21359593;21402532;21478865;21561764;2159111;21670079;21673049;21707843;21709632;21890473;21900206;21923909;21937108;21949683;21984809;21988832;22020178;22022577;22066143;22130024;22179700;22210720;22474364;22475777;22542077;22573555;22710246;22814818;22872755;22901127;22949521;23000965;23056264;23079705;23160820;23180655;23291589;23389291;23392891;23493294;23602807;23612120;23639973;23648065;23665963;23690070;23775127;23826131;23907847;23975195;23990020;24080207;24187139;24193570;24232815;24513686;24561505;24604522;24683409;24816145;24832862;7481822;7565739;7566127;7667283;7705655;7746322;7758108;7760852;7760929;7776974;7831303;7838715;7870181;7925381;7990953;8027277;8034312;8114692;8257089;8301142;8598193;8603043;8616895;8619474;8621574;8622986;8670810;8887632;9013544;9083083;9110174;9115274;9121466;9162076;9171239;9267036;9346901;9368056;9415406;9430642;9440806;9452433;9489701;9491782;9568716;9582446;9628876;9632676;9632709;9653119;9692544;9694878;9698548;9717844;9727070;9795230;9812988;9837884;9878542;9918848;9920895 6256 F1D8Q5;P19793;Q6P3U7 AB307705;ABBA01030001;ABBA01030002;AC156789;AF052092;AK090416;AK131081;AK131192;AK131513;AL354796;AL669970;AL683798;AMYH02021851;AMYH02021852;AMYH02021853;BC007925;BC009882;BC031356;BC063827;BC096246;BC110998;BM563384;BP422254;BQ220698;BQ637722;CH471090;CN391132;DQ303444;HI574244;HQ692843;NM_001291920;NM_001291921;NM_002957;U66306;X52773;XM_005263409;XM_006717232 AAC31116;AAH63827;AAI10999;ABB96254;ABZ92182;ADZ17354;BAC03397;BAC85131;BAG54745;BAH02296;CAA36982;CBX47611;EAW88122;EAW88123;EAW88124;EAW88125;NP_001278849;NP_001278850;NP_002948;P19793;XP_005263466;XP_006717295 Hs.590886 1648710;1648993;1713895;1788164;1788166;1788168;1788170;1788172;1788174;1788176;1788178;1798112;2139172;2152052;2178394;2182880;2185339;5015931 G67257;G67258;G67259;G67260;G67261;G67262;G67263;G67264;GDB:376726;RH119378;RH36155;RH48538;RH70281;RH71144;RXRA_2235;STS-AA004312;STS-Z41140;WI-22534 FLJ00280;FLJ00318;FLJ16020;FLJ16733;MGC102720;NR2B1 OTTHUMP00000022510;nuclear receptor subfamily 2 group B member 1;retinoic acid receptor RXR-alpha;retinoid X nuclear receptor alpha;retinoid x receptor alpha APPROVED protein-coding HGNC:10477 01577 180245 REVIEWED 1346179 RYK receptor-like tyrosine kinase The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012] 3 3 3 q22 132299259 132364742 - 133875978 133969586 - 134157134 134250744 - 1580863;6480464 10454588;11956217;12477932;15146197;15454084;16681403;17110338;17672918;19322201;19937600;20056645;20634891;21875946;21906983;2247464;22773843;7613029;8247543;8386829;8390040;8726462 6259 H0Y8A4;H7C4P6;P34925;Q59FQ5;Q8WTZ8;U3KPT6 AB209405;ABBA01059159;AC096967;AC107310;AC108742;AMYH02007718;AMYH02007719;BC021700;BQ003586;CH471052;CN309980;NG_032937;NM_001005861;NM_002958;S59184;X69970;X96588 AAB26341;AAH21700;AAI48615;AAI53091;BAD92642;CAA49591;CAA65406;EAW79155;NP_001005861;NP_002949;P34925 Hs.654562 1339218;1341888;1655800;1673031;1680016;1688985;1733392;1744789;1754287;1756449;1759743;1784632;1855092;2159641 D14S567;D3S1238;D3S3684;D3S4192;GDB:568595;RH69892;RH70882;RH81074;SHGC-112408;SHGC-132301;SHGC-143452;SHGC-150765;SHGC-77367;WI-12317 D3S3195;JTK5;JTK5A;RYK1 JTK5A protein tyrosine kinase;OTTHUMP00000216375;RYK receptor-like tyrosine kinase;hydroxyaryl-protein kinase;tyrosine-protein kinase RYK APPROVED protein-coding ENSG00000163785 HGNC:10481 02751 600524 REVIEWED 735628 RXRB retinoid X receptor, beta This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 6 p21.3 34715731 34722798 - 33161362 33168630 - 33193585 33200696 - 1580863;6480464;6484675;6484731;6907045;8554872 17132853;17320364 10187832;10594021;10611353;10737800;10965896;11278635;11438648;11782480;11839661;11840500;12175732;12403842;12477932;12514092;12549917;12767074;1310259;1315958;1331778;14574404;14985366;1514958;15207008;15489334;15589691;15604093;15608692;15625236;15635645;16189514;1662118;17195188;17341859;17389020;17916375;18217139;18375961;18660489;18676680;19170196;19223982;19255064;19453261;19471022;19625176;19692168;19811264;19851445;19888660;19913121;20195357;20211142;20587610;20628086;21693764;21890473;21906983;21923909;21988832;22242598;22322885;23000965;23740775;24183235;24250222;24816145;7481822;7556191;7705655;7758108;7990953;8034312;8125298;8257090;8381386;8670810;8889548;9013766;9150186;9267036;9346901;9626662;9627117;9727070 6257 B7Z3E4;E9PK75;P28702;Q5STP9 AB209244;ABBA01038138;AF065396;AF120161;AK225842;AK295759;AK300402;AK301096;AK302125;AL031228;AL645940;AL662824;AL844527;AMYH02013481;AW473828;BC001167;BE704198;BM982876;BT007280;CH471081;CR354565;CR759733;CR936877;DC425042;HQ692844;HQ709179;M84820;NG_023374;NM_001270401;NM_001291989;NM_021976;X63522;X63523;X65463;X66424;XM_005249278;XM_005249279;XM_005272854;XM_005272855;XM_005275007;XM_005275008;XM_005275149;XM_005275150;XM_005275276;XM_005275277;XM_005275438;XM_005275439;XM_006715162;XM_006725494;XM_006725708;XM_006725825;XM_006725917;XM_006726010 AAA60293;AAC18599;AAD13794;AAH01167;AAP35944;ADZ17355;ADZ17386;BAD92481;BAH12180;BAH13278;BAH13409;BAH13631;CAA20239;CAA45087;CAA46456;CAI95622;EAX03679;NP_001257330;NP_001278918;NP_068811;P28702;XP_005249335;XP_005249336;XP_005272911;XP_005272912;XP_005275064;XP_005275065;XP_005275206;XP_005275207;XP_005275333;XP_005275334;XP_005275495;XP_005275496;XP_006715225;XP_006725557;XP_006725771;XP_006725888;XP_006725980;XP_006726073 Hs.388034 1774365;1798114;2127833;2131155;2146148;2149697;2189435;2191587;5021678;5491659 G10518;MARC_26740-26741:1037207926:1;MARC_5891-5892:991939781:1;MARC_6301-6302:997299518:1;RH46226;RH69971;RXRB_2036;SHGC-56505;STS-X66424;ksks12 DAUDI6;H-2RIIBP;MGC1831;NR2B2;RCoR-1 MHC class I promoter binding protein;OTTHUMP00000029436;OTTHUMP00000029438;nuclear receptor subfamily 2 group B member 2;retinoic acid receptor RXR-beta;retinoid X nuclear receptor beta;retinoid x receptor beta APPROVED protein-coding ENSG00000204231 HGNC:10478 01578 180246 REVIEWED 1315165 RUVBL2 RuvB-like AAA ATPase 2 This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46364487 46386389 + 49496738 49519183 + 48993481 49015926 + 1580863;6480464;9495926 21502417 10428817;10524211;10810093;10882073;10966108;10998447;11076863;11080158;11230166;11256614;11509179;11713276;11839798;12171929;12477932;12665801;12963728;14615539;14702039;14966270;15161933;15196461;15231747;15489334;15489336;15635413;15647280;15829968;15960975;16014379;16157330;16159877;16169070;16189514;16196087;16230350;16303743;16381901;16387653;16601686;16699503;17148452;17157868;17220478;17314511;17342744;17353931;17573780;17636026;17643375;17657734;17704809;17721549;17955473;18026119;18087039;18218781;18358808;18397884;18457437;18765919;18781797;18922472;19167051;19180575;19299493;19369355;19380743;19403135;19433865;19444951;19450687;19454010;19471022;19524533;19620283;19738201;19851296;19877184;20020773;20080577;20085707;20198315;20332121;20346530;20360068;20371770;20412048;20462248;20473970;20509972;20534441;20553504;20603076;20800578;20801936;20888340;21081666;21110914;21139048;21145461;21182205;21303910;21320693;21532573;21549307;21763315;21832049;21853274;21890473;21906983;21933716;21963094;21987572;21988832;22053931;22210892;22268729;22285491;22337587;22341977;22467210;22505724;22544753;22748767;22751105;22797925;22863883;22902626;22923768;22939629;22990118;23000965;23002137;23077236;23349634;23398456;23403462;23438482;23443559;23824909;23878400;23891720;24023044;24049095;24244333;24255178;24332808;24457600;24583282;24816145;25027693;25036637 10856 B3KNL2;M0QXI6;M0QXZ7;M0QYD8;M0R0Y3;M0R0Z0;Q9Y230;X6R2L4 AB024301;ABBA01032950;ABBA01032951;ABBA01032952;AC008687;AC245081;AF124607;AF151804;AF155138;AF401216;AK027762;AK057498;AK074542;AK301344;AL136743;AX882885;BC000428;BC004531;BC008355;CH471177;CQ782490;CR533507;NG_033041;NM_006666;XM_005258426;XM_005258427;XM_005258428;Y18417 AAD34041;AAD38073;AAF87087;AAH00428;AAH04531;AAH08355;AAL02172;ABM82318;ABM85494;BAA76708;BAC11048;BAG51374;BAG51921;BAG62892;CAB46270;CAB66677;CAE91764;CAF85776;CAG38538;CAL38511;EAW52426;EAW52427;EAW52428;EAW52429;EAW52430;EAW52431;NP_006657;Q9Y230;XP_005258483;XP_005258484;XP_005258485 Hs.515846 1337492;1847990;2151237;5037552 A002E14;D19S879;D8S2279;RH47492 CGI-46;ECP-51;ECP51;INO80J;RVB2;TIH2;TIP48;TIP49B 48 kDa TATA box-binding protein-interacting protein;48 kDa TBP-interacting protein;51 kDa erythrocyte cytosolic protein;INO80 complex subunit J;REPTIN;Reptin52;RuvB (E coli homolog)-like 2;TAP54-beta;TBP-interacting protein, 48-KD;TIP60-associated protein 54-beta;erythrocyte cytosolic protein, 51-KD;repressing pontin 52;reptin 52;ruvB-like 2 APPROVED protein-coding ENSG00000183207 HGNC:10475 16070 604788 REVIEWED 1348938 RYKP1 receptor-like tyrosine kinase pseudogene 1 17 17 17 p13.2 4136931 4139918 + 4125361 4128349 + 4222066 4225054 + 10066802;2247464;8247543;8386829 6260 ABBA01054758;AC087742;AMYH02032819;NG_005810 1673031;1733392 D14S567;WI-12317 JTK5;JTK5B;RYKL1;RYKP APPROVED pseudo HGNC:10482 INFERRED 1316054 RYBP RING1 and YY1 binding protein ENCODES a protein that exhibits DNA binding (inferred); transcription corepressor activity (inferred); zinc ion binding (inferred); INVOLVED IN histone H2A monoubiquitination; FOUND IN PcG protein complex; INTERACTS WITH 4-(ethoxymethylene)-2-phenyloxazol-5-one; cocaine; copper atom 3 3 3 p13 72354609 72427714 - 72423744 72495774 - 72374593 72446623 - 1580863;6480464 10369680;11171983;11395500;11953439;12411495;12477932;14691460;14765135;15489334;16189514;16943429;17070805;18551146;19098711;19322201;20379614;20467438;20543098;20881960;21139048;21530438;21890473;21906983;21963094;22325352;22723975;23000965;23395003;23455922;23563607;24457600;8943360 23429 Q8N488 AB029551;ABBA01030947;ABBA01030948;AC104330;AF085840;AF179286;AF227959;AL049940;AMYH02007057;AMYH02007058;AY228125;BC014959;BC036459;BF939411;CH471055;NM_012234 AAD51858;AAH14959;AAH36459;AAK63197;AAO73587;ABM83140;ABM86336;BAA89486;EAW65515;EAW65516;EAW65517;NP_036366;Q8N488 Hs.7910 1659841;1671650;1672200;1714007;1854323;2154275;2167979;2169158;2170221;2170538;2170540;2178226;2186614 A001W26;Cda10b05;G19717;HSC10B052;RH119434;RH16326;SGC33951;SGC34284;SHGC-36192;SHGC-52585;SHGC-77078;STS-AA027856;WI-11804 AAP1;APAP-1;YEAF1 DED-associated factor;DEDAF;OTTHUMP00000214312;RING1 and YY1-binding protein;YY1 and E4TF1 associated factor 1;YY1 and E4TF1-associated factor 1;apoptin-associating protein 1;death effector domain-associated factor;ring1 interactor RYBP protein-coding HGNC:10480 09607 607535 VALIDATED 1349517 S100A1 S100 calcium binding protein A1 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008] 1 1 1 q21 126671908 126675547 + 153600873 153604513 + 153628397 153632037 + 1579977;1579960;1580863;6480464;7204682 10924368;16129693;17964289 10510252;10753920;10869553;10913138;11007787;11829317;11909974;12042313;12118070;12477932;12721284;12804600;12960148;1384693;14638689;15147519;15171681;15489334;15578088;15608682;15654019;15780567;16169012;16189514;16710414;16760135;16969478;17210106;17396138;17483815;17512776;18029348;18193148;18360353;18845991;18976975;19011512;19037854;19297317;19302533;19384190;19482672;19538970;19601998;19680475;19926575;1998503;20042890;20188096;20347987;20429377;20591429;20864512;21090249;21296671;22399290;22451665;22647434;22989881;23048072;23351007;23595519;23662436;23671622;23683996;23824909;24244340;24402969;24501865;3722149;4052452;7620916;7759097;8341667;8641565;8701470;8894274;8898862;9298970;9468301;9645951;9803314;9883272;9920416;9925766;9926943 6271 P23297;Q5T7Y4;Q5T7Y5;Q5T7Y6 AB451316;AB451446;ABBA01049441;AK126904;AK312152;AL162258;AMYH02001904;BC014392;BC035791;BC072006;BC094843;BT006938;CH471121;GN341830;M65210;NM_006271;X58079 AAH14392;AAP35584;BAG35086;BAG70130;BAG70260;CAA41107;CAY39334;EAW53301;EAW53302;NP_006262;P23297 Hs.515715 2157466;2217928;5017578 S100A1;S100A1_2878;STS-X58079 S100;S100-alpha;S100A OTTHUMP00000035100;S-100 protein alpha chain;S-100 protein subunit alpha;S100 alpha;S100 calcium-binding protein A1;S100 protein, alpha polypeptide;protein S100-A1 APPROVED protein-coding ENSG00000160678 HGNC:10486 01489 176940 REVIEWED 1319797 RXFP2 relaxin/insulin-like family peptide receptor 2 This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 13 13 13 q13.1 13380672 13444008 + 32313679 32377009 + 31739542 31802872 + 1580863;1600187;6480464;8554872;8699517 12217959 11809971;12036966;12114498;12506116;12970298;14656401;15579790;15649866;15708846;15956688;16051677;16507880;16867980;16926383;16963451;17028442;17437853;17473281;18063691;18073304;18434306;18772597;19017913;19279230;19416161;19416162;19416188;19416190;19416191;20560146;20636340;21789898;22737225;22973049;23024363;23539510;24983702 122042 Q8WXD0 ABBA01010128;AF403384;AF453828;AL138708;AL159161;AMYH02027816;AY899851;CH471075;NG_015819;NM_001166058;NM_130806 AAI46280;AAI48730;AAL69324;AAL73946;AAX85199;EAX08484;EAX08485;NP_001159530;NP_570718;Q8WXD0 Hs.680763 1713231;2112088 D13S1700;RH120605 GPR106;INSL3R;LGR8;LGR8.1;RXFPR2 G protein coupled receptor affecting testicular descent;G-protein coupled receptor 106;G-protein coupled receptor affecting testicular descent;GREAT;OTTHUMP00000018219;leucine-rich repeat-containing G protein-coupled receptor 8;leucine-rich repeat-containing G-protein coupled receptor 8;relaxin family peptide receptor 2;relaxin receptor 2 APPROVED protein-coding ENSG00000133105 HGNC:17318 05976 606655 REVIEWED 733408 RXRG retinoid X receptor, gamma This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the antiproliferative effects of retinoic acid (RA). This receptor forms dimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene is expressed at significantly lower levels in non-small cell lung cancer cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010] 1 1 1 q22-q23 138475332 138519756 - 165370159 165414592 - 165400922 165445355 - 1580863;6480464;6484675;6484731;6907045;8554872 17132853;17320364 11158331;11397877;11641790;11713274;11839661;12082103;12361685;12444914;12477932;12514092;12615696;1310259;1312497;15186611;15299084;15489334;15604093;15608692;15635645;15919723;16169070;16189514;16197915;16344560;16710414;17195188;17272748;17643375;18269685;18398047;18660489;19064610;19106195;19453261;19536175;19754311;20019805;20113835;20133701;20211142;20379614;20510503;20602615;20634891;20855565;21102462;21131950;21145461;21187846;21355951;21368711;21697133;21843636;21890473;21900206;21923909;21988832;22020178;22100394;22180072;22193333;23000965;23759678;23936423;23969901;7806300;8034312;8127707;8391126;8616895;8650544;8889548;9006910;9143002;9147069;9150186;9794455 6258 F1D8Q7;F1T097;P48443 AB307706;AB593015;AB593016;ABBA01047282;AK125497;AK312922;AL160058;AL538345;AMYH02002064;BC012063;BE349162;BI768747;BM684530;BM728015;BX118484;CH471067;CR456705;DA251671;DA893476;HQ692845;KF455045;KF455048;NG_029517;NM_001256570;NM_001256571;NM_006917;NR_033824;U38480 AAA80681;AAH12063;ACE86731;ACE87417;ADZ17356;BAG35767;BAH02297;BAJ83970;BAJ83971;CAG32986;EAW90745;NP_001243499;NP_001243500;NP_008848;P48443 Hs.26550 1339876;1753743;1850543 D1S2878;SHGC-89236;WI-15938 NR2B3;RXRC OTTHUMP00000032566;nuclear receptor subfamily 2 group B member 3;retinoic acid receptor RXR-gamma;retinoid X nuclear receptor gamma variant 1;retinoid X receptor-gamma;retinoid x receptor gamma 2314796;2314802;2315765;2315816 GLUCO118_H;GLUCO121_H;GLUCO149_H;GLUCO177_H APPROVED protein-coding ENSG00000143171 HGNC:10479 01579 180247 REVIEWED 1352862 S100A11P1 S100 calcium binding protein A11 pseudogene 1 INTERACTS WITH valproic acid 7 7 7 q22.1 97709621 97710151 + 102902398 102902928 + 103261951 103262481 + 6480464 7887910 729659 ABBA01057992;AC004668;AMYH02016449;CH471070;NG_008400 EAW83322 S100A11P;S100A14 APPROVED pseudo HGNC:10491 INFERRED 1317019 RYR2 ryanodine receptor 2 (cardiac) This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008] 1 1 1 q43 210455038 211246790 + 237205510 237997288 + 237042210 237833988 + 1599247;1599251;1599243;1580863;6480464;6907045;7204694;7240710;7240708;8554872;8699517 11159936;16483256;17027851;20961976;23091085 10081705;10463072;10788707;10830164;11157710;11208676;11237759;11352932;11576544;11673462;11673493;11807805;11897558;12015469;12106942;12213830;12443530;12446682;12459180;12576471;12754204;12887973;12919952;12959641;14571276;14593104;14722100;15016728;15033925;15044459;15047862;15054223;15147738;15174051;15197150;15215235;15231748;15466642;15591045;15749201;15851612;15887426;16188589;16213210;16272262;16601229;16769042;16818210;16825580;17052226;17062961;17110338;17200109;17259277;17313373;17322175;17330843;17554300;17556193;17558603;17569730;17693412;17875969;17903301;17921453;17967164;18262818;18468998;18586264;18618700;18929323;19009018;19095005;19216760;19220289;19226252;19398665;19626040;19684603;19781797;19850743;19913121;19926015;20045464;20080988;20106799;20132818;20195357;20301310;20301466;20379614;20408814;20424473;20471962;20628086;20676041;20716843;20811636;20962236;21151189;21270101;21315846;21386754;21531043;21652165;21659649;21768539;21853274;21872879;21881589;22178870;22222782;22374134;22456474;22511749;22519458;22608700;22787013;22802361;22948152;23006423;23040497;23094885;23152493;23251661;23258540;23382691;23498838;23516528;23595086;23632022;23651034;23788249;2380170;23829686;23848845;23943880;24147812;24285081;24386095;24447446;24786399;24837260;7592856;8406504;8589694;8809036;9148749;9607712 6262 B4DGV4;H7BY35;Q92736 AB204532;AB204533;AB204534;AB204535;AB204536;ABBA01033178;ABBA01033179;ABBA01033180;ABBA01033181;ABBA01033182;ABBA01033183;ABBA01033184;AI218003;AJ002511;AJ300340;AJ300429;AK294792;AK297823;AL356773;AL359924;AL365332;AL391809;AL442065;AL445473;AL513130;AL596133;AMYH02002979;AMYH02002980;AMYH02002981;AMYH02002982;AMYH02002983;AMYH02002984;AMYH02002985;AMYH02002986;AMYH02002987;AMYH02002988;AMYH02002989;AMYH02002990;AMYH02002991;AMYH02002992;AMYH02002993;AMYH02002994;AMYH02002995;CH471098;NG_008799;NM_001035;X91869;X98330;XM_006711802;XM_006711803;XM_006711804;XM_006711805;XM_006711806;XM_006711807;XM_006711808;XM_006711809;XM_006711810;Y08218 BAG57915;BAG60160;BAJ10285;BAJ10286;BAJ10287;BAJ10288;BAJ10289;CAA05502;CAA62975;CAA66975;CAA69395;CAC18855;EAW70069;EAW70070;EAW70071;NP_001026;Q92736;XP_006711865;XP_006711866;XP_006711867;XP_006711868;XP_006711869;XP_006711870;XP_006711871;XP_006711872;XP_006711873 Hs.109514;Hs.738571 1650848;1656591;1669359;1670297;1673141;1692552;1692562;1694860;1695400;1708110;1715099;1739391;1751181;1752679;1752925;1760563;1764779;1765435;1765761;1766029;1766561;1769166;1779844;1848322;1848324;2130169;2137832;2141345;2143549;2150674;2156057;2158713;2172528;2177829;2219660;5017483;5494084 A005K43;AFMa045zc5;AL009368;AL009377;AL009781;AL009896;AL010068;AL033928;AL034052;AU047536;D1S1567;D1S2330E;D1S3582;G19121;G20294;G44301;HSC2DA032;RH119501;RH68322;RYR2;RYR2__5535;SHGC-105042;SHGC-106561;SHGC-106812;SHGC-143985;SHGC-148351;SHGC-148923;SHGC-149192;SHGC-149417;SHGC-149875;SHGC-153844;SHGC-30442;SHGC-30836;SHGC-68511;SHGC-76523;SHGC-76579;SHGC-81453 ARVC2;ARVD2;RYR-2;RyR;VTSIP;hRYR-2 OTTHUMP00000037535;cardiac muscle ryanodine receptor;cardiac muscle ryanodine receptor-calcium release channel;cardiac-type ryanodine receptor;cardiac-type ryaodine receptor;islet-type ryanodine receptor;kidney-type ryanodine receptor;ryanodine receptor 2;type 2 ryanodine receptor APPROVED protein-coding ENSG00000198626 HGNC:10484 01619 180902;600996;604772 REVIEWED 1323591 S100A11 S100 calcium binding protein A11 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. [provided by RefSeq, Jul 2008] 1 1 1 q21 125119617 125124146 - 152004982 152009511 - 152032506 152037035 - 1580863;6480464 10486266;10673436;10851017;10913138;11258932;11873942;12477932;12645011;12704215;1286667;14623863;14962086;15051732;15138568;15241500;15302935;15322223;15489334;15701847;16130169;16502470;16710414;16964243;17000675;17476473;17537172;17624315;17932043;17978094;18029348;18340452;18385759;18463164;18523305;18589612;18618420;18694925;19048101;19167051;19199708;19577285;20347987;20372844;20379614;20639865;20972266;21139048;21139050;21674799;21861103;21890473;21906983;21963094;21987572;22304920;22319637;22869607;22903637;22939629;23000965;23402259;23745637;23928665;24376686;24583282;24631019;7490069;7759097;7889529;8557678;8985590;9287141 6282 P31949;V9HWH9 ABBA01049409;AK312184;AL591893;AMYH02001890;BC001410;BC014354;BT009912;CH471121;D38583;D49355;D50374;EU794659;NM_005620;X80201 AAH01410;AAH14354;AAP88914;ABM82672;ABM85851;ACJ13713;BAA07597;BAA08354;BAA23325;BAG35117;CAA56492;EAW53392;NP_005611;P31949 Hs.417004 5111137;5124371 RH17442;RH91450 HEL-S-43;MLN 70;MLN70;S100C OTTHUMP00000015271;S100 calcium-binding protein A11 (calgizzarin);calgizzarin;epididymis secretory protein Li 43;metastatic lymph node gene 70 protein;protein S100-A11;protein S100-C;s100 calcium binding protein a11 (calgizzarin) APPROVED protein-coding ENSG00000163191 HGNC:10488 04385 603114 REVIEWED 69015 RYR3 ryanodine receptor 3 The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 15 15 15 q14-q15 10404754 10960825 + 33603177 34158304 + 33310976 33866102 + 1580863;6480464;6907045;7204694;8554872 20961976 10508160;11171121;11598113;12213830;12354756;12471029;12565913;1320290;14550562;14702039;14970260;17110338;18588595;19009018;19095005;19096130;19581603;20009918;20195357;20201926;20379614;20424473;20962236;21139048;21145461;21531043;21810988;21881589;22100703;22627881;22664477;22948152;23393343;24024966;24026422;24147578;24211435;24423397;24457600;24561552;24831772;7523185;7556644;8276408;9384575;9395096;9515741;9607712 6263 Q15413 AB001025;ABBA01038549;ABBA01038550;ABBA01038551;ABBA01038552;ABBA01038553;ABBA01038554;ABBA01038555;ABBA01038556;AC010809;AC011938;AC055874;AC067793;AC087638;AJ001515;AJ002512;AMYH02030137;AMYH02030138;AMYH02030139;AMYH02030140;AMYH02030141;AMYH02030142;AMYH02030143;AMYH02030144;BQ003017;CH471125;NM_001036;NM_001243996;X74269;X74270 BAA23795;CAA04798;CAA05503;CAA52326;CAA52327;EAW92276;EAW92277;EAW92278;EAW92279;EAW92280;NP_001027;NP_001230925;Q15413 Hs.709373 1335087;1338309;1341689;1684343;1685447;1703968;1704960;1709414;1710960;1713199;1713261;1716871;1719443;1719463;1722185;1723229;1747835;1753825;1755117;1761275;1790379;2110711;2111210;2157250;2178419;7185451;7186920 D13S284;D15S1007;D15S1040;D15S1355;D15S224E;D15S995;G09850;G60145;G66865;RH120387;RH120621;RH121729;RH122298;RH123440;RH123450;RH94176;RH98244;RYR3;RYR3__6899;SHGC-142044;SHGC-145281;SHGC-77736;SHGC-77979;SHGC-81739;SHGC-84456;SHGC-89207 RYR-3 brain ryanodine receptor-calcium release channel;brain-type ryanodine receptor;type 3 ryanodine receptor APPROVED protein-coding ENSG00000198838 HGNC:10485 01620 180903 REVIEWED 4890230 S100A11P4 S100 calcium binding protein A11 pseudogene 4 12 12 12 63713596 63713898 + 64045408 64045710 + 63651628 63651930 + 100506938 ABBA01026623;AC027667;AMYH02026648;NG_027989;NG_031909 pseudo HGNC:37841 INFERRED 1352115 S100A12 S100 calcium binding protein A12 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. [provided by RefSeq, Jul 2008] 1 1 1 q21 126417439 126419330 - 153346184 153348075 - 153373708 153375599 - 1580863;6480464 10399917;10531386;10666601;11134923;11522286;11856825;11884208;11884210;12042313;12218151;12477932;12697438;12699958;12740341;12777802;15033494;15077313;15489334;16253391;16710414;16804393;16864903;17158877;17328050;17787039;17852869;18029348;18050248;18257809;18292089;18346834;18443896;18663285;19201044;19284577;19386136;19501594;19530996;19542470;19576587;19875725;20025991;20437698;20461025;20512925;20537326;20847094;20966394;21067798;21258041;21418345;21724696;21822023;21906738;22549347;22609404;22786469;22796048;22818064;23324110;23377171;23398829;23609464;23921255;23942785;24307989;7626002;7759097;8619860;8619876;8769108;8985590 6283 P80511 ABBA01049433;AL591704;AMYH02001902;BC070294;CH471121;D49549;D83657;D83664;NM_005621;X97859;X98289 AAH70294;ADR82637;BAA08497;BAA12030;BAA12036;CAA66453;CAB94792;EAW53332;NP_005612;P80511 Hs.19413 1712108;2175564 G54103;WI-17060 CAAF1;CAGC;CGRP;MRP-6;MRP6;p6 EN-RAGE;ENRAGE;OTTHUMP00000015332;S100 calcium-binding protein A12 (calgranulin C);calcium-binding protein in amniotic fluid 1;calgranulin C;calgranulin-C;extracellular newly identified RAGE-binding protein;migration inhibitory factor-related protein 6;neutrophil S100 protein;protein S100-A12;s100 calcium binding protein a12 (calgranulin c) APPROVED protein-coding ENSG00000163221 HGNC:10489 04383 603112 REVIEWED 1344968 S100A14 S100 calcium binding protein A14 This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011] 1 1 q21.3 153586731 153588808 - 153614255 153616872 - 1580863;6480464 11944983;12477722;12477932;15489334;16189514;16682778;16710414;17207965;17620096;17625598;18029348;18606705;19056867;19351828;19601998;19956863;21139048;21559403;21800051;21906983;22032898;22451655;23197251;23824909;23886191;24086685;24107296;24163370;24285542;7759097 57402 Q9HCY8 ABBA01049439;ABBA01049440;AF426828;AMYH02001904;AY007220;BC005019;BG677973;BX470102;CS185562;NM_020672;XM_005245362;XM_006711468 AAG01893;AAH05019;AAM19206;ADQ32442;CAJ42743;NP_065723;Q9HCY8;XP_005245419;XP_006711531 Hs.288998 BCMP84;S100A15;S114 OTTHUMP00000032964;OTTHUMP00000032965;OTTHUMP00000032966;S100 calcium-binding protein A14;breast cancer membrane protein 84;protein S100-A14 APPROVED protein-coding ENSG00000189334 HGNC:18901 10467 607986 VALIDATED 1353498 S100A2 S100 calcium binding protein A2 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer. [provided by RefSeq, Jul 2008] 1 1 1 q21 126604841 126609575 - 153533584 153538306 - 153561108 153565830 - 1580863;6480464 10429967;10788426;10837826;10951287;11260185;11813862;11956617;12445212;12477932;1286667;1372446;14519656;15171681;15313892;15467767;15489334;15941720;16015083;16189514;16232198;16273244;16367903;16449968;16710414;17032501;17067748;17077493;17123307;17239974;17874182;18388131;18656279;18669640;18773213;19118029;19297317;19344608;19376121;19601998;19725154;20188096;20591429;20677014;20823519;20949468;21029261;21139048;21443102;22304920;22747445;23000965;23337980;23344957;23621473;23726265;23996929;24318973;7759097;8341667;8701470;9092943;9274623;9468301;9481475;9668057 6273 P29034;Q5RHS7;R4GN49 ABBA01049435;AF086003;AMYH02001903;AW195797;BC002829;BC105787;BQ953250;BX470102;CH471121;M87068;NM_005978;Y07755 AAH02829;AAI05788;CAA69033;EAW53305;NP_005969;P29034 Hs.516484 2217930 S100A2_2698 CAN19;MGC111539;S100L OTTHUMP00000032967;S100 calcium-binding protein A2;protein S100-A2 APPROVED protein-coding ENSG00000196754 HGNC:10492 01508 176993 REVIEWED 1312636 S100A13 S100 calcium binding protein A13 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types of tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q21 3205 3470 - 153591275 153606582 - 153618799 153634092 - 1580863;6480464 10051426;10722710;11432880;12118070;12135982;12477932;12645008;12746488;14702039;15033494;15489334;15635413;15821778;16145699;16169070;16341674;16710414;16773219;17077500;17374362;18259052;19284995;20208480;20863990;21139048;21270123;21890473;21906983;21963094;21988832;22863883;22939629;23000965;23443559;24250222;24722184;24982031;7566098;7759097;8878558;8985590;9712836 6284 Q99584 AA366085;ABBA01049440;ABBA01049441;AK097132;AL162258;AMYH02001904;AX038714;AY987392;BC000632;BC068064;BC070291;BM762088;BM913375;BT006724;BX470102;BX472819;CH471121;CK817939;CR542149;NM_001024210;NM_001024211;NM_001024212;NM_001024213;NM_005979;X99920;XM_005245434 AAH00632;AAH68064;AAH70291;AAP35370;AAX89402;CAA68188;CAC16559;CAG46946;EAW53296;EAW53297;EAW53298;EAW53299;EAW53300;NP_001019381;NP_001019382;NP_001019383;NP_001019384;NP_005970;Q99584;XP_005245491 Hs.516505 1671153;1681554;1688462;1771256;1774589;2157466;2217928;5017578 RH41891;RH69545;RH71309;RH91554;S100A1;S100A1_2878;SHGC-34733;STS-X58079 OTTHUMP00000034802;S100 calcium-binding protein A13;protein S100-A13 APPROVED protein-coding ENSG00000189171 HGNC:10490 03586 601989 REVIEWED 3323318 S100A11P2 S100 calcium binding protein A11 pseudogene 2 7 7 7 p14.2 35193480 35194010 + 35208787 35209317 + 35169175 35169705 + 12853948;9847074 347701 ABBA01056887;AC005826;AC006379;AMYH02015511;NG_002702 AAD21786 pseudo HGNC:37840 INFERRED 1315577 S100A16 S100 calcium binding protein A16 ENCODES a protein that exhibits calcium ion binding; poly(A) RNA binding; protein homodimerization activity; INVOLVED IN response to calcium ion (inferred); FOUND IN cytoplasm; cytosol; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; aflatoxin B1; atrazine 1 1 1 q21 126650891 126657038 - 153579362 153585514 - 153606886 153613038 - 1580863;6480464 12477932;14684152;15302935;15489334;15635413;16189514;16710414;17030513;18029348;19056867;21046186;21139048;21800051;21832049;21906983;22939629;24583282;8781769;9417904 140576 Q96FQ6 ABBA01049438;AJ585980;AK290804;AMYH02001904;AY221961;AY762098;BC010541;BC019099;BC095462;BX470102;CH471121;NM_080388;U23859;U92985;XM_005244905;XM_005244906 AAH10541;AAH19099;AAH95462;AAP46152;AAW88319;ABM84516;ABM85865;BAF83493;CAE51865;EAW53303;EAW53304;NP_525127;Q96FQ6;XP_005244962;XP_005244963 Hs.515714 1337578;2148476;2159542;2165754;2169838 D1S2715;D1S3030;D1S3344;WI-16548;c01502s AAG13;DT1P1A7;MGC17528;S100F OTTHUMP00000032893;S100 calcium-binding protein A16;aging-associated gene 13 protein;aging-associated protein 13;protein S100-A16;protein S100-F protein-coding ENSG00000188643 HGNC:20441 11529 PROVISIONAL 3277804 S100A11P3 S100 calcium binding protein A11 pseudogene 3 11 11 11 q13.4 68510559 68526585 - 71217107 71233133 - 71506061 71522087 - 645474 ABBA01017551;AMYH02025068;AP000867;NG_022983 pseudo HGNC:37842 INFERRED 732253 S100A3 S100 calcium binding protein A3 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq, Jul 2008] 1 1 1 q21 126591069 126592994 - 153519805 153521734 - 153547333 153549258 - 1580863;6480464 10837826;12045193;12136135;12470658;12477932;15489334;16710414;17353931;18083705;19601998;20083228;21377473;7673133;7759097;8341667;8672544;8701470;9274623;9468301;9920416;9920417 6274 P33764 ABBA01049435;AMYH02001903;AX038694;BC012893;BT006955;BX470102;CH471121;CR542163;CR542185;NG_027993;NM_002960;Z18948;Z18950 AAH12893;AAP35601;ABM82359;ABM85534;CAA79471;CAA79473;CAC16549;CAG46960;CAG46982;EAW53306;EAW53307;EAW53308;EAW53309;NP_002951;P33764 Hs.557609 2127128;2145315;5120287 D1S3498;GDB:230309;RH70973 S100E OTTHUMP00000015474;S100 calcium-binding protein A3;protein S100-A3 APPROVED protein-coding ENSG00000188015 HGNC:10493 01507 176992 REVIEWED 1354055 S100A6 S100 calcium binding protein A6 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008] 1 1 1 q21 126578337 126579978 - 153507076 153508717 - 153534600 153536241 - 1580863;6480464 10037139;10913138;11925593;11937060;12042313;12118070;12152788;12239456;12477932;12577318;12601007;12746458;12805373;12859951;1299619;1384693;14584893;1482346;15489334;15878395;16130169;16157226;16278400;16288473;16710414;17466273;17495951;17721932;17726019;18029348;18201235;18612712;18620780;18669640;18714402;18753141;18765292;18803400;19048101;19056867;19062716;19297317;19542912;19601998;19712129;19724273;19834903;19888321;1999197;20188096;20213445;20581057;20591429;20596636;20629554;21039744;21139048;21319273;21663912;21693764;21906983;21923636;21938494;21963094;21987572;22192801;22295074;22450162;22505232;22560296;22681645;22939629;23000965;23076148;23095053;23344957;23537648;23796514;23886630;23993025;24378749;2448309;24654937;2775283;3036810;3755724;7759097;7821789;8341667;8701470;9578461;9925766 6277 P06703;R4GN98 ABBA01049435;AK312088;AMYH02001902;AY034480;BC001431;BC009017;BF726732;BT006965;BX470102;CH471121;D28464;J02763;M14300;M18981;NM_014624 AAA35886;AAA51905;AAA51906;AAH01431;AAH09017;AAK59702;AAP35611;ABM85861;ABW03747;BAA05830;BAG35024;EAW53318;EAW53319;EAW53320;EAW53321;EAW53322;EAW53323;EAW53324;EAW53325;EAW53326;NP_055439;P06703 Hs.275243 1647585;1659729;1743157 GDB:277192;RH11047;STS-Z18949 2A9;5B10;CABP;CACY;MLN 4;PRA OTTHUMP00000015472;OTTHUMP00000015473;S100 calcium-binding protein A6 (calcyclin);calcyclin;growth factor-inducible protein 2A9;prolactin receptor-associated protein;protein S100-A6;s100 calcium binding protein a6 (calcyclin) APPROVED protein-coding ENSG00000197956 HGNC:10496 00237 114110 REVIEWED 1319090 S100A5 S100 calcium binding protein A5 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has a Ca2+ affinity 20- to 100-fold higher than the other S100 proteins studied under identical conditions. This protein also binds Zn2+ and Cu2+, and Cu2+ strongly which impairs the binding of Ca2+. This protein is expressed in very restricted regions of the adult brain. [provided by RefSeq, Jul 2008] 1 1 1 q21 126580884 126585501 - 153509623 153515772 - 153537147 153543296 - 1580863;6480464 10882717;11510959;11855835;12118070;12477932;12645008;16710414;19536568;19601998;19668339;7759097;8341667;8701470;9920416 6276 P33763 ABBA01049435;AMYH02001902;AMYH02001903;AX038698;BC093955;BC093957;BX470102;CH471121;NM_002962;XM_005245429;XM_005245430;Z18949;Z18950;Z18954 AAH93955;AAH93957;CAA79472;CAA79475;CAA79479;CAC16551;EAW53316;EAW53317;NP_002953;P33763;XP_005245486;XP_005245487 Hs.2960 1647585;2126893;5120285 GDB:230308;RH70249;STS-Z18949 S100D OTTHUMP00000015470;S100 calcium-binding protein A5;protein S100-A5 APPROVED protein-coding ENSG00000196420 HGNC:10495 01506 176991 REVIEWED 1346957 S100A7A S100 calcium binding protein A7A ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4-aminopyridine (ortholog); benzo[a]pyrene (ortholog) 1 1 1 q21.3 126460255 126466956 + 153389000 153395701 + 153416524 153423225 + 1580863;6480464;8554872 11230159;12477932;12664160;12923069;16682778;16710414;17620096;17625598;18029348;18606705;1940442;22747601 338324 Q86SG5 ABBA01049433;AJ243672;AJ243673;AL591704;AMYH02001902;AY189117;AY189118;AY189119;BC040254;BR000043;CH471121;NM_176823;XM_006711287 AAI48487;AAI53083;AAO40032;AAO40033;AAO40034;EAW53328;EAW53329;FAA00014;NP_789793;Q86SG5;XP_006711350 Hs.442337 5126858 RH71389 NICE-2;S100A15;S100A7L1;S100A7f OTTHUMP00000015324;S100 calcium binding protein A15;S100 calcium binding protein A7-like 1;S100 calcium-binding protein A15;S100 calcium-binding protein A7-like 1;S100 calcium-binding protein A7A;protein S100-A7A protein-coding ENSG00000184330 HGNC:21657 15290 VALIDATED 1343763 S100A7L2 S100 calcium binding protein A7-like 2 ENCODES a protein that exhibits calcium ion binding (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4-aminopyridine (ortholog); benzo[a]pyrene (ortholog) 1 1 1 q21.3 126480727 126483759 - 153409471 153412503 - 153436995 153440027 - 6480464 12664160;16710414 645922 Q5SY68 ABBA01049433;AL591704;AMYH02001902;BR000043;NM_001045479 AAI48519;AAI53116;FAA00016;NP_001038944;Q5SY68 Hs.647713 S100a7b S100 calcium-binding protein A7-like 2;protein S100-A7-like 2 protein-coding HGNC:21655 VALIDATED 1316413 RYR1 ryanodine receptor 1 (skeletal) This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 35726452 35880238 + 38924340 39078204 + 38433700 38587564 + 1580863;6480464;6907045;7204694;7240710;8554872;8699517 20961976 10026226;10051009;10212196;10484775;10531621;10612851;10737800;11069905;11171121;11206130;11237759;11279144;11562475;11668625;11673462;11673493;11709545;11928716;11943213;12045220;12059893;12066726;12112081;12124989;12136074;12213830;12223488;12496092;12509414;12509428;12565913;12704193;12709444;12810060;1354642;1374404;14500992;14532276;14596927;14638677;14641996;14660561;14722100;14985404;14999498;15033925;15057824;15175001;15210166;15226293;15299003;15342556;15448513;15564033;15689621;15774471;15972723;16084090;16239337;16284304;16372898;16380615;1639409;16484216;16621918;16835904;16958053;17033962;17071618;17190947;17226826;17259277;17293538;17376685;17474147;17538032;17707769;1774074;18092949;18212565;18253926;18283481;18306019;18312400;18505726;18564801;18618700;1862346;18650434;18713863;18719443;18765655;18927079;18945287;19009018;19020143;19027160;19056867;19082546;19095005;19096717;19120137;19191329;19191333;19223216;19303294;19346234;19454545;19645060;19648156;19685112;19762757;19807743;19823671;19918671;19919814;19931341;20080650;20142353;20301325;20301436;20301467;20301565;20379614;20424473;20452790;20461000;20482855;20583297;20681998;20724266;20839240;20952238;20962236;21062345;21139048;21157159;21239886;21248738;21454501;21455645;21503806;21514828;21674524;21699856;21828061;21881589;21911697;21918424;21926372;21965348;22028225;22030266;22100703;22415532;22473935;22480578;22550088;22589245;22719904;22752422;22846571;22948152;2298749;23000965;23071107;23127960;23173055;23183335;23329375;23476141;23553484;23558838;23585572;23628358;23788249;23805838;23894444;24013571;24091937;24361844;7511586;7556644;7721813;7751854;7829078;7849712;7881417;8012359;8220422;8220423;8380342;8432525;8661021;9030597;9066328;9138151;9199552;9287354;9298970;9389851;9450902;9497245;9607712;9890886 6261 M0QZY3;M0R014;M0R0S0;M0R127;M0R1U6;M0R2E2;P21817 A20359;AB066217;AB066218;AB209425;ABBA01040682;ABBA01040683;ABBA01040684;ABBA01040685;ABBA01040686;ABBA01040687;ABBA01040688;ABBA01040689;AC005933;AC011469;AC067969;AF075460;AK293785;AMYH02036071;AMYH02036072;AMYH02036073;AMYH02036074;AMYH02036075;BI000785;BP231595;CH471126;J05200;M91455;NG_008866;NM_000540;NM_001042723;S77392;S78717;U48508;XM_006723317;XM_006723318;XM_006723319 AAA60294;AAA60295;AAB21245;AAB34356;AAC26798;AAC51191;AAC71651;AAF66076;BAB83891;BAB83892;BAD92662;BAG57198;CAA01501;EAW56795;EAW56796;EAW56797;EAW56798;NP_000531;NP_001036188;P21817;XP_006723380;XP_006723381;XP_006723382 Hs.466664 1734616;1790247;1793448;1851729;2114390;2172994 D19S626E;PMC22438P1;RH11112;RH71249;RYR1;SHGC-6129 CCO;MHS;MHS1;PPP1R137;RYDR;RYR;RYR-1;SKRR central core disease of muscle;ryanodine receptor 1;ryanodine receptor type1;sarcoplasmic reticulum calcium release channel;skeletal muscle calcium release channel;skeletal muscle ryanodine receptor;skeletal muscle-type ryanodine receptor;type 1 ryanodine receptor;type 1-like ryanodine receptor APPROVED protein-coding ENSG00000196218 HGNC:10483 01618 117000;145600;180901;255320 REVIEWED 1353559 S100A7P1 S100 calcium binding protein A7 pseudogene 1 1 1 1 q21.3 126470739 126472132 - 153399484 153400877 - 153427008 153428401 - 12664160;12923069;1940442 127481 Q5M770 ABBA01049433;AL591704;AMYH02001902;BR000043;NG_009595 FAA00015 S100A7L3;s100a7d pseudo HGNC:21654 INFERRED 2303473 S100A7P2 S100 calcium binding protein A7 pseudogene 2 1 1 1 q21.3 126488639 126490393 + 153417385 153419139 + 153444909 153446663 + 12664160;12923069;1940442 375027 ABBA01049433;AL591704;AMYH02001902;BR000043;NG_009592 S100A7L4;s100a7e pseudo HGNC:21656 INFERRED 733247 S100A10 S100 calcium binding protein A10 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008] 1 1 1 q21 125070031 125081361 - 151955386 151966714 - 151982910 151994238 - 6480464 10559334;10777578;11258932;11571284;11590242;11939791;12163506;12198146;12235365;12477932;12645529;12660155;12730231;12938929;13679511;1386341;14699089;15196694;15302870;1533123;1533380;15489334;15574370;15849182;16169070;16230353;16400147;16710414;16890384;16984913;17241856;17254974;17510952;17581860;17695432;17824845;17971878;17999956;18029348;18288090;1831433;18434302;18838110;19056867;19521263;19601998;19730683;20093721;20100475;20639865;20863517;21139048;21269277;21310922;21367534;21372205;2148288;21722919;21849434;21890473;21906983;21928315;21938494;21963094;22304920;22365974;22797859;22830395;22927980;22939629;22940583;23000965;23091277;23129259;23275167;23402259;23595865;23637395;23696646;23757730;23828264;23994525;7759097;7821789;8276421;8341667;8701470;8898866;9036930;9047302;9197417;9202034;9369453;9886297 6281 P60903;Q6FGE5 ABBA01049409;AK291073;AL450992;AMYH02001890;BC015973;BC105786;BE378444;BI827113;BQ050753;CH471121;CQ878718;CQ891323;CR542162;D28387;M38591;M81457;NM_002966 AAA58404;AAA58426;AAH15973;AAI05787;ABM84481;ABM84482;ABM84483;ABM87802;ABM87803;BAA05753;BAF83762;CAG46959;CAH59521;CAH68677;EAW53397;EAW53398;EAW53399;NP_002957;P60903 Hs.143873 1775238;2154597;2219662;5091433 D1S3250;G34842;RH17741;S100A10_2658 42C;ANX2L;ANX2LG;CAL1L;CLP11;Ca[1];GP11;MGC111133;P11;p10 OTTHUMP00000015269;S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11));S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11));annexin II ligand, calpactin I, light polypeptide;annexin II tetramer (AIIt) p11 subunit;calpactin I light chain;calpactin-1 light chain;cellular ligand of annexin II;protein S100-A10;s-100 related protein, clone 42c APPROVED protein-coding ENSG00000197747 HGNC:10487 00232 114085 REVIEWED 1321093 S100A7 S100 calcium binding protein A7 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding ability in one EF-hand at the N-terminus. This protein is markedly over-expressed in the skin lesions of psoriatic patients, but is excluded as a candidate gene for familial psoriasis susceptibility. The exact function of this protein is not known. [provided by RefSeq, Jul 2008] 1 1 1 q21 126501473 126504390 - 153430220 153436559 - 153457744 153464083 - 1580863;6480464;8554872 10026247;10190323;10191275;10331666;10595935;10737800;11258932;11782356;12032852;12421467;12477932;12664160;12702588;12704215;12839573;1286667;12923069;15201992;15217497;15489334;15568027;15615860;15717926;15740587;15994944;16082188;16236163;16357139;16675044;16799092;17033192;17110338;17136347;17159909;17353931;17418446;17560571;17625598;17986321;18029348;18223693;18263703;18320059;18373864;18588753;18606705;18625016;18634149;18754038;19079183;19159013;19162067;19249126;19380743;1940442;19601998;19707901;19810752;19844956;20101226;20217214;20226301;20571488;20628624;20689826;20727496;20811636;21132011;21139048;21145461;21182205;21187770;21283546;21324122;21501383;21551409;21642987;21730203;21740085;21800051;22016394;22126777;22158945;22189627;22220760;22230654;22641350;22694938;22772316;22795619;22810585;22901663;23151615;23228205;23285311;23300877;23349634;23499548;23535840;23614747;23618129;24122701;7759097;8077703;8526920;8618016;8618345;8701470;9562557;9693957 6278 P31151 ABBA01049434;AF050167;AJ012825;AL591704;AMYH02001902;AW238300;BC034687;BF090388;BR000043;BX476368;CH471121;CR542164;M86757;NM_002963;S81991;XM_005245431 AAA60210;AAH34687;ABM82203;ABM85391;CAC20409;CAG46961;EAW53327;FAA00017;NP_002954;P31151;XP_005245488 Hs.112408 5126858 RH71389 PSOR1;S100A7c OTTHUMP00000015327;S100 calcium-binding protein A7 (psoriasin 1);protein S100-A7;psoriasin 1;s100 calcium binding protein a7 (psoriasin 1) APPROVED protein-coding ENSG00000143556 HGNC:10497 02645 600353 REVIEWED 1349531 S100A8 S100 calcium binding protein A8 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. [provided by RefSeq, Jul 2008] 1 1 1 q21 126433763 126434804 - 153362508 153395054 - 153390032 153391188 - 1580863;2316903;633930;2316912;2316906;6480464 15221771;17970044;19151078;8343166 10571075;10771424;10837826;11058579;11141076;11435486;11564187;11708798;11867565;11895856;12137245;12218151;12477932;12480428;12489193;12553726;12626582;12645005;12697438;12704215;12710851;12719414;12748257;12833525;1286667;12937135;13130482;1326551;15069705;15331440;15489334;15598812;15642721;15816004;16033829;16169070;16216873;16297907;16502470;16573830;16613612;16690079;16710414;16806487;16979015;17050004;17069562;17090475;17197440;17353931;17429438;17469085;17557234;17636430;17644317;17787039;17852869;17895549;17936757;18030206;18044712;18060880;18339893;18374411;18537548;18588753;18689872;18786929;18832721;18922970;19056867;19079333;19087201;19186948;19201880;19210342;19232095;19248102;19284577;19380743;19440546;19466434;19505873;19530996;19596235;19601998;19608587;19615732;19670424;19695969;19752232;19755614;19823685;19898558;19935772;19957061;20096140;20172281;20219570;20391533;2039599;20555353;20594128;20717964;20811636;20819668;20833513;20936779;21067798;21072048;21139048;21145461;21182205;21192933;21228116;21239714;21319273;21334078;21434523;21463326;21472666;21492422;2149559;21592353;21766173;21791097;21799753;21832049;21900206;21912088;21961943;21971985;22127564;22139384;22209981;22282267;22318783;22363402;22381691;22420238;22446997;22505354;22555971;22586326;22622474;22634002;22660800;22683330;22728165;22806545;22808130;22990118;23018243;23165982;23248262;23299480;23320892;23378728;23423260;23426492;23431180;23443559;23456298;23483999;23626736;23637971;23800059;23824909;23850136;23874958;23907944;23915068;23942785;23954397;23977231;24041228;24041785;24077667;24114735;24122301;24177755;24202303;24326364;24334497;24439044;24461178;24470119;24692722;24718960;25027693;3267695;3313057;3405210;3561500;7759097;7849642;8341667;8400238;8423249;8619876;8701470;9867828;9920411 6279 P05109 A12027;ABBA01049433;AK291328;AL591704;AMYH02001902;BC005928;BT007378;BU935536;CH471121;CR407674;M21005;NM_002964;X06234;Y00278 AAA36327;AAH05928;AAP36042;ABM84421;ABM87366;BAF84017;CAA01001;CAA29580;CAA68390;CAG28602;EAW53330;EAW53331;NP_002955;P05109 Hs.416073 2135165;2183337 RH11552;RH68221 60B8AG;CAGA;CFAG;CGLA;CP-10;L1Ag;MA387;MIF;MRP-8;MRP8;NIF;P8 OTTHUMP00000015329;S100 calcium-binding protein A8 (calgranulin A);calgranulin A;calgranulin-A;calprotectin L1L subunit;cystic fibrosis antigen;leukocyte L1 complex light chain;migration inhibitory factor-related protein 8;protein S100-A8;s100 calcium binding protein a8 (calgranulin a);urinary stone protein band A APPROVED protein-coding ENSG00000143546 HGNC:10498 00471 123885 REVIEWED 1344914 S100G S100 calcium binding protein G This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family of calcium-binding proteins that includes calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. [provided by RefSeq, Jul 2008] X X X p22.2 20786679 20791190 + 16668281 16672791 + 16650158 16654668 + 6480464;7204685 20943758 10417310;11076863;12477932;1379540;15217781;15489334;15772651;1610358;17712966;2009668;20214988;23132313;23824909;7817802;8045984;8308886 795 P29377 ABBA01071444;ABBA01071445;AL445467;AMYH02038927;BC112174;CH471074;L13042;L13220;NG_013229;NM_004057;X65869 AAA35637;AAA35638;AAI11918;AAI12175;CAA46699;EAW98916;NP_004048;P29377 Hs.639 1652489;1701730;1745109 GDB:594585;GDB:604580;RH1707 CABP;CABP1;CABP9K;CALB3;MGC138379 OTTHUMP00000022988;S100 calcium-binding protein G;calbindin 3, (vitamin D-dependent calcium-binding protein);calbindin D9K;calbindin-D9K;protein S100-G;vitamin D-dependent calcium-binding protein, intestinal APPROVED protein-coding ENSG00000169906 HGNC:1436 02360 302020 REVIEWED 69040 S100A4 S100 calcium binding protein A4 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q21 126587355 126589542 - 153516095 153518282 - 153543619 153545806 - 6480464;7204682 17964289 10753920;10869553;11278510;11278647;11527429;11752788;11786397;11836260;11875708;11994292;12118070;12147716;12168821;12239456;12379109;12439718;12445462;12477932;12517790;12532418;12645008;12756252;12942774;1329089;1384693;14531065;14606958;14640694;14679171;14713104;1482346;15033494;15116098;15171681;15289939;15334597;15479433;15489334;15543138;15579771;15608682;15635413;15713996;15781852;15788416;15852272;15956747;16097057;16169070;16243835;16265347;16367903;16489073;16554030;16571622;16685438;16710414;16712791;16865243;16948116;16984379;16990429;17032501;17051636;17200116;17219414;17223348;17276942;17328050;17497677;17504119;17550972;17565747;17638890;17673926;17851788;18029348;18154362;18246798;18350635;18410126;18435928;18548584;18554396;18618724;18694925;18718015;18781797;18783790;18784356;18803290;19011242;19023966;19043399;19056867;19059703;19194111;19248116;19399660;19506550;19513503;19596927;19601998;19615802;19641515;19653048;19666596;19682073;19703228;19713532;19799859;19808905;19820999;19917604;19945782;19956863;20000738;20019188;20050020;20070253;20093727;20204297;20332215;20346360;20367639;20489045;20515499;20591429;20650761;20685652;20712050;20719498;20855150;21110983;21169409;21195708;21218086;21289293;21352421;21360024;21514449;21603862;21618579;21691200;21712367;21721535;21837681;21889495;21890473;21906983;21924240;21963094;21986134;21987572;22126861;22147918;22200787;22258387;22287060;22408350;22458600;22460785;22483112;22569556;22613408;22740693;22863883;22878175;22934964;22939629;22964635;23026527;23085231;23149742;23162804;23316018;23378728;23383075;23443559;23543443;23546393;23612849;23667563;23752197;23771538;23781010;23832737;23851436;23886630;23900547;23929008;24037664;24062356;24065232;24174222;24215866;24217649;24240114;24252706;24378831;24401939;24643522;24732359;24795458;3155863;7607566;7759097;8120097;8204608;8341667;9405067;9926943 6275 P26447 ABBA01049435;AK292083;AMYH02001903;AV735911;AX038696;AY762982;BC000838;BC016300;BC024974;BX470102;CB109749;CH471121;CR450345;M80563;NG_027993;NM_002961;NM_019554;Z18950;Z33457 AAA51920;AAH00838;AAH16300;AAV74399;ABM83714;ABM87034;BAF84772;CAA79474;CAA83880;CAC16550;CAG29341;EAW53310;EAW53311;EAW53312;EAW53313;EAW53314;EAW53315;NP_002952;NP_062427;P26447 Hs.654444 2126893;2127128;2145315;2155068 D1S3498;RH11477;RH70249;RH70973 18A2;42A;CAPL;FSP1;MTS1;P9KA;PEL98;S100-A4 OTTHUMP00000015467;OTTHUMP00000015468;S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog);S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog);calvasculin;fibroblast-specific protein-1;leukemia multidrug resistance associated protein;malignant transformation suppression 1;metastasin;placental calcium-binding protein;s100 calcium-binding protein a4 APPROVED protein-coding ENSG00000196154 HGNC:10494 15914 114210 REVIEWED 1604319 S100PBP S100P binding protein This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] 1 1 1 p35.1 31551826 31593116 + 33282368 33324480 + 32817442 32858879 + 6480464;8554872 12477932;14702039;15632002;16344560;18089492;19322201;21890473;22330678;23000965 64766 E9PIY5;E9PIZ7;E9PL86;E9PMK1;E9PSA0;Q96BU1 AA557330;ABBA01023397;ABBA01023398;AC114493;AK022965;AK025811;AK090711;AMYH02000720;AMYH02000721;BC015175;BX647667;BX647916;CH471059;DB092234;NG_031988;NM_001256121;NM_022753;XM_006710818;XM_006710819;XM_006710820 AAH15175;ACE86836;ACE87523;ACE87833;ACE87834;ACT64357;ACT64361;BAB14335;BAG52216;CAI46038;EAX07503;EAX07504;EAX07505;NP_001243050;NP_073590;Q96BU1;XP_006710881;XP_006710882;XP_006710883 Hs.440880;Hs.734633 1720397;2122249;2152099;2153265;2159072;2164199;5014019;5015961;5016596;5021345;5022322 D11S2560;D15S1477;D1S2569;D5S2354;G29156;G59001;GDB:631802;MARC_14371-14372:1007069032:1;SHGC-74535;SHGC-74555;SHGC-74735 DKFZp313K2325;FLJ12903;S100PBPR OTTHUMP00000004045;OTTHUMP00000004046;OTTHUMP00000004047;OTTHUMP00000235380;S100P binding protein 1;S100P-binding protein APPROVED protein-coding ENSG00000116497 HGNC:25768 07803 611889 REVIEWED 1344746 S100P S100 calcium binding protein P The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq, Jul 2008] 4 4 4 p16 6597594 6600935 + 6695566 6698897 + 6693839 6697170 + 1580863;6480464 10924150;11127925;11747429;12021435;12042313;12477932;12507480;12746458;12808036;14617629;14672411;14716296;15171681;15213440;15313892;1540168;15489334;15632002;16047742;16061848;16189514;1633809;17000674;17448597;17486081;17539915;17587138;17875703;18029348;18162774;18452169;18575778;18725408;19018761;19056867;19073601;19092634;19111582;19796763;19885547;20153506;20198348;20382408;20890108;21044950;21054985;21177863;21317706;21325798;21327297;21412073;21538952;21663912;21751241;21963094;22147918;22399300;22552710;22585604;22939629;23007696;23216986;23251661;23269460;23344957;23364898;23693020;23785431;23824909;24303922;7759097;8341667;8701470;9784376 6286 P25815 ABBA01012727;AC093323;AF539739;AI202505;AMYH02008671;AY423724;BC006819;BI259919;BT007289;CH471131;KF495696;NM_005980;X65614 AAH06819;AAO41114;AAP35953;AAS00487;ABM82014;ABM85196;CAA46566;EAW82384;NP_005971;P25815 Hs.2962 1649204 D4S1380 MIG9 OTTHUMP00000115574;S100 calcium-binding protein P;migration-inducing gene 9;protein S100-E;protein S100-P APPROVED protein-coding HGNC:10504 02792 600614 REVIEWED 1352981 S100A9 S100 calcium binding protein A9 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. [provided by RefSeq, Jul 2008] 1 1 1 q21 126401585 126404758 + 153330330 153333503 + 153357854 153361027 + 1580863;2316903;633930;2316906;6480464 17970044;19151078;8343166 10464253;10551823;10612291;10837826;11058579;11564187;11708798;11803621;11851337;11867565;12137245;12167632;12218151;12477932;12489193;12553726;12626582;12645005;12704215;12710851;12719414;12748056;12748257;12833525;1286667;12937135;13130482;14654085;15040889;15069705;15075348;15277376;15489334;15598812;1562590;15642721;15740587;15905572;16033829;16196087;16216873;16253391;16297907;16502470;16573830;16613612;16682612;16690079;16710414;16799092;16806487;16979015;17050004;17090475;17095618;17110338;17126494;17187679;17222807;17237603;17328050;17353931;17429438;17620599;17636430;17787039;17803295;17852869;17895549;17936757;18029348;18030206;18044712;18060880;18339893;18537548;18588753;18689872;18784990;18786929;18803290;18922970;18927283;19056867;19059406;19079333;19087201;19122197;19142861;19156129;19165585;19186948;19201880;19203362;19232095;19248102;19284577;19380743;19440546;19534726;19601998;19608587;19670424;19752232;19755614;19762566;19823685;19935772;19957061;20098622;20103766;20130364;20219570;20226301;20231196;20237496;20422274;20550547;20555353;20594128;20812987;20819668;20936779;21067798;21139048;21145461;21192933;21228116;21239714;21325622;21334078;21369941;21376380;21380506;21472666;21492422;2149559;21592353;21738950;21766173;21782178;21791097;21799753;21839816;21912088;22029973;22074005;22093455;22127564;22145905;22209981;22230807;22253789;22282267;22304731;22318783;22363402;22446997;22457725;22505354;22555971;22583932;22622474;22634002;22660800;22683330;22691358;22699162;22804476;22822112;22838504;22864818;22939629;22962574;23018243;23029420;23135911;23165982;23207880;23223301;23248262;23299480;23320892;23340902;23349634;23354417;23378728;23423260;23426492;23431180;23455922;23456298;23483999;23563247;23626736;23637971;23664529;23667563;23806524;23836528;23850136;23868055;23874958;23883959;23907944;23915068;23942785;23954397;23977231;24041228;24054362;24064546;24077667;24122301;24128654;24144106;24156302;24175291;24177755;24202303;24231443;24245608;24262203;24286299;24326364;24439044;24461178;24470119;24548634;24691441;24718960;24726733;24759699;2478889;25027693;2656677;3313057;3405210;7759097;8341667;8400238;8423249;8701470;9570563;9867828;9920411 6280 P06702 A12029;A12031;A12032;ABBA01049433;AF086362;AF237581;AF237582;AK311882;AL591704;AMYH02001902;BC047681;CH471121;CR542207;CR542224;M21064;M26311;NM_002965;X06233 AAA36326;AAA68480;AAF62536;AAF62537;AAH47681;BAG34823;CAA01002;CAA01003;CAA01004;CAA29579;CAG47003;CAG47020;EAW53333;EAW53334;NP_002956;P06702 Hs.112405 1744097;2109793;2124061 D1S3414;GDB:387149;S100A9_3034.2 60B8AG;CAGB;CFAG;CGLB;L1AG;LIAG;MAC387;MIF;MRP-14;MRP14;NIF;P14 OTTHUMP00000015331;S100 calcium-binding protein A9 (calgranulin B);calgranulin B;calgranulin-B;calprotectin L1H subunit;leukocyte L1 complex heavy chain;migration inhibitory factor-related protein 14;protein S100-A9;s100 calcium binding protein a9 (calgranulin b) APPROVED protein-coding ENSG00000163220 HGNC:10499 00472 123886 REVIEWED 1348454 S11 surface antigen (X-linked) 2 6267 HGNC:10505 1345821 S12 surface antigen (X-linked) 3 6268 HGNC:10506 1343937 S1PR2 sphingosine-1-phosphate receptor 2 This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. This protein participates in sphingosine 1-phosphate-induced cell proliferation, survival, and transcriptional activation [provided by RefSeq, Jul 2008] 19 19 19 p13.2 10227498 10237335 - 10332109 10341948 - 10221433 10231272 - 68254;1580863;6480464;6484113;8554872 8087418 10383399;10488065;10617617;10818441;10908314;11331101;11915348;11967277;12445827;12477932;12648236;15208267;15489334;15764699;17431187;17710232;18088600;18577758;18612546;18658144;18765664;18922980;19139947;19903857;19948975;20194630;21145832;21289286;22244964;22547907;22889737;23106337;23300082;23589284;23629860;23666803;23723450;23770055;24038457;24064301;24812668;8878560;9988698 9294 O95136 ABBA01029944;AC011511;AF034780;AMYH02035486;AY262688;BC069598;BF513287;BG055846;CH471106;NG_028016;NM_004230;XM_006722936 AAC98919;AAH69598;AAP20652;EAW84081;EAW84082;NP_004221;O95136;XP_006722999 Hs.655405 1679425;1732219;2153244;2186430;5015619;5015861;5015879;5016478;5020740;5020881;5021369;5022651;5024413;5037552;5492557;7185938 D10S16;D11S2921;D11S3114;D19S535;D8S2279;GDB:314949;GDB:434012;L17709;L17796;L17809;L17877;RH68372;RH98787;STS-H11254;UniSTS:481639 AGR16;EDG-5;EDG5;Gpcr13;H218;LPB2;S1P2 S1P receptor 2;S1P receptor EDG5;S1P receptor Edg-5;endothelial differentiation G-protein coupled receptor 5;endothelial differentiation, sphingolipid G-protein-coupled receptor, 5;sphingosine 1-phosphate receptor 2;sphingosine 1-phosphate receptor Edg-5 APPROVED protein-coding HGNC:3169 05488 605111 VALIDATED 1312457 S1PR4 sphingosine-1-phosphate receptor 4 This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3115117 3116711 + 3178250 3180335 + 3178738 3180332 + 1580863;6480464;6484113;8554872 10679247;10753843;11919175;12115604;12270137;12401211;12477932;12648236;12761884;12767884;15298705;15489334;18577758;18713968;19293149;20686109;20837468;22119461;22460268;24602016;2834384;9790765 8698 O95977 ABBA01002802;AC011547;AJ000479;AMYH02035240;AY322537;BC014970;CH471139;FJ200495;NM_003775 AAH14970;AAP84350;ACO54892;CAA04118;EAW69336;EAW69337;NP_003766;O95977 Hs.662006 1340883;2106475 D19S120;EDG6_4074 EDG6;LPC1;S1P4;SLP4 S1P receptor 4;S1P receptor Edg-6;endothelial differentiation G-protein coupled receptor 6;endothelial differentiation, G protein coupled receptor 6;endothelial differentiation, G-protein-coupled receptor 6;endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6;sphingosine 1-phosphate receptor 4;sphingosine 1-phosphate receptor Edg-6 APPROVED protein-coding ENSG00000125910 HGNC:3170 04779 603751 REVIEWED 1348648 S100Z S100 calcium binding protein Z Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008] 5 5 5 q13.3 72040311 72111532 + 76145826 76217056 + 76850001 76921231 + 737633;1580863;6480464;8554872 12477932 11747429;15489334;19861958 170591 Q8WXG8 ABBA01061973;ABBA01061974;AC027342;AC114962;AF437876;AMYH02011610;BC022320;BX281742;CD368348;CH471084;NM_130772 AAH22320;AAL30893;EAW95783;EAW95784;NP_570128;Q8WXG8 Hs.482563 1335306;1683415;1728403;1763837;7185563 D5S424;G63484;RH65223;SHGC-147501 Gm625;S100-zeta OTTHUMP00000222029;OTTHUMP00000222030;S100 calcium binding protein, zeta;S100 calcium-binding protein Z;protein S100-Z APPROVED protein-coding HGNC:30367 15291 610103 VALIDATED 1352881 S1PR3 sphingosine-1-phosphate receptor 3 This gene encodes a member of the EDG family of receptors, which are G protein-coupled receptors. This protein has been identified as a functional receptor for sphingosine 1-phosphate and likely contributes to the regulation of angiogenesis and vascular endothelial cell function. [provided by RefSeq, Jul 2008] 9 9 9 q22.1-q22.2 62189011 62202574 + 91606324 91620070 + 88991409 89005155 + 632521;1580863;6480464;6484113;8554872 9409733 10216094;10383399;10488065;10537322;10555146;10617617;10683250;10712250;10794715;10818438;10818441;10818450;10908314;11854302;11915348;12039947;12477932;12648236;12763936;15489334;15894172;16344560;16527273;17331465;17395891;18502815;18577758;18612546;18658144;19309361;19633297;19748727;19913121;20628086;20648639;20889557;20979115;20980685;21145832;21652634;21660960;22118674;22308044;22331829;22344462;22547907;22595806;22771388;22889737;23142484;23392686;23466305;23589284;23911438;23918395;24038457;24064218;2834384;8649355;8878560;9988698 1903 Q99500 ABBA01004617;AF022139;AK312798;AL772202;AL832194;AMYH02021184;AY322540;BC060827;BC069579;BM990167;CH471089;DA722994;DR763542;NM_005226;X83864 AAC51906;AAH60827;AAH69579;AAP84353;BAG35658;CAA58744;EAW62758;NP_005217;Q99500 Hs.585118 1652537;1721539;1791918;2151643;5015619;5015861;5016478;5020740;5022200;5037552;5492565;7185938 D10S16;D11S3114;D8S2279;G59774;GDB:434012;L17809;L18426;PMC133668P1;RH48303;RH66805;UniSTS:481689 EDG-3;EDG3;FLJ37523;FLJ93220;LPB3;MGC71696;S1P3 G protein-coupled receptor, endothelial differentiation gene-3;OTTHUMP00000215691;S1P receptor 3;S1P receptor EDG3;S1P receptor Edg-3;endothelial differentiation G-protein coupled receptor 3;endothelial differentiation, sphingolipid G-protein-coupled receptor, 3;sphingosine 1-phosphate receptor 3;sphingosine 1-phosphate receptor Edg-3 APPROVED protein-coding ENSG00000213694 HGNC:3167 03572 601965 REVIEWED 733271 S1PR5 sphingosine-1-phosphate receptor 5 The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM, Mar 2008] 19 19 19 p13.2 10518131 10523388 - 10623418 10628668 - 10512742 10517992 - 632648;1580863;6480464;6484113 10799507 11069896;11331101;11705398;12044878;12234605;12427546;12477932;12648236;14702039;15057824;15489334;15530552;16303743;16344560;17918267;18577758;19211033;19474291;20085233;20950786;22541110;22715976;24602016;2834384 53637 K7EIT5;Q9H228 AB083602;ABBA01029917;ABBA01029918;AC011461;AF088014;AF317676;AF331840;AF331841;AF331842;AK074661;AK094880;AMYH02035498;AY262689;BC034703;BC067781;CH471106;CQ782630;DA747912;DA866378;DB013424;NM_001166215;NM_030760;XM_005259937 AAG38113;AAH34703;AAH67781;AAL57041;AAL57042;AAL57043;AAP20653;ABM82216;ABM84267;ABM85400;ABM87660;BAB89315;BAC11119;CAF85890;EAW84113;EAW84114;EAW84115;NP_001159687;NP_110387;Q9H228;XP_005259994 Hs.501561 2125763;2182020;5493858 Edg8;RH78976;SHGC-53359 EDG8;Edg-8;S1P5;SPPR-1;SPPR-2 S1P receptor 5;S1P receptor Edg-8;endothelial differentiation G-protein-coupled receptor 8;endothelial differentiation, sphingolipid G-protein-coupled receptor, 8;sphingosine 1-phosphate receptor 5;sphingosine 1-phosphate receptor EDG8;sphingosine 1-phosphate receptor Edg-8 APPROVED protein-coding ENSG00000180739 HGNC:14299 05510 605146 VALIDATED 1344466 S7 surface antigen (chromosome 7) 2 6264 HGNC:10509 1346165 S1PR1 sphingosine-1-phosphate receptor 1 The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. [provided by RefSeq, Jul 2008] 1 1 1 p21 99964008 99968779 + 101702305 101707076 + 101236749 101241520 + 1304283;1580863;1581747;1357201;1580913;6480464;6484113;8554872 11549339;11557736;14711826;16403835 10383399;10488065;10555146;10818441;10921915;10982820;11032855;11214319;11230698;11583630;11698050;11741892;11854302;11861422;11915345;11915348;11967277;12038970;12087059;12477932;12480944;12742228;14500646;14988150;15626732;15699128;15710622;15728452;16148028;16195373;16319133;16344560;16926156;16963454;17237497;17331465;17918267;17975119;18172456;18247041;18541717;18577758;18606817;18644866;18658144;18713968;18760838;18773427;18849324;18936953;19023099;19150609;19158154;19286607;19293149;19633297;19778812;19810093;19913121;19948975;20036214;20081804;20348395;20416181;20501673;20566754;20592280;20624651;20628086;20648639;20889557;20951945;21145832;21555855;2160972;21613209;21660960;21719706;21988832;22100314;22104144;22326262;22334704;22422617;22547907;22595806;22623751;22624714;22745305;22837470;22889737;22898216;22975327;23033271;23135269;23192342;23212923;23300082;23333304;23419711;23466305;23538947;23558074;23934754;24038457;24076635;24131465;24239722;24263101;24728592;24780445;2834384;8626678;8889548;9409733;9488656;9705355 1901 B4DLH9;P21453 ABBA01045430;AF022137;AF233365;AK297005;AK312493;AL109741;AMYH02001564;AY011725;BC018650;BI598518;BU677564;CF994197;CH471097;CR541786;CR542269;CR977007;DB132417;DB572979;M31210;NG_016181;NM_001400;XM_006710399 AAA52336;AAC51905;AAF43420;AAH18650;AAK01993;BAG35395;BAG59541;CAG46585;CAG47065;EAW72927;EAW72928;NP_001391;P21453;XP_006710462 Hs.154210 1667629;1671231;1690676;1734620;1735812;1794636;1797102;2168030;2168426;2181286 AL009411;D1S1774E;D1S1917E;D1S2185;D1S3362;EDG1;PMC333404P1;RH69118;RH92741;SHGC-75229 CD363;CHEDG1;D1S3362;ECGF1;EDG-1;EDG1;FLJ58121;S1P1 OTTHUMP00000012525;S1P receptor 1;S1P receptor Edg-1;endothelial differentiation G-protein coupled receptor 1;endothelial differentiation, sphingolipid G-protein-coupled receptor, 1;sphingosine 1-phosphate receptor 1;sphingosine 1-phosphate receptor EDG1;sphingosine 1-phosphate receptor Edg-1 APPROVED protein-coding ENSG00000170989 HGNC:3165 03578 601974 REVIEWED 737117 S100B S100 calcium binding protein B The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological, neoplastic, and other types of diseases, including Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 33131698 33138202 - 48018531 48025035 - 46598618 46605122 - 1580863;5508762;5508764;5508775;5508777;5508779;5508782;5508821;2324684;5508787;5508793;5508799;2325647;5508837;5508761;5508825;5508797;5508798;5508822;5508763;5508767;5508769;5508786;5508788;5508796;5508824;5508841;5508853;2316906;5508765;5508766;5508770;5508781;5508790;5508801;5508818;5508819;5508823;5508832;5508838;5509052;5509053;5508780;5508834;5508836;6480464;7204682;8695981 12076997;14504167;14583344;14707571;15105355;15464860;15581912;17376896;17706250;17944636;17964289;17970044;18068619;18708122;18840784;19147496;19505208;19539717;19705461;19790244;19809934;19910580;19959621;20002528;20043976;20105309;20304889;20847541;20855493;20953641;21034449;21070816;21080947;21130083;21293918;21371524;21402140;21423669;21663912;21695352;21725169;21743141;21843601;21885671;21976236;22114731 10394361;10399917;10510252;10531386;10830953;10876243;10913138;11264299;11312263;11527429;11809917;11888280;11969402;12042313;12118070;12351263;12377780;12469878;12470955;12477932;12480931;12490005;12493777;12505619;12527118;12569284;12630517;12636931;12645009;12746458;12927678;14530578;14642437;14661952;14675567;14699277;14967825;14997170;15033494;15178678;15236402;15257081;15306236;15489334;15556616;15670788;15708543;15781852;15820773;15840729;16143320;16189514;16340181;16511125;16931519;17008613;17010455;17020600;17023485;17043297;17091777;17199889;17264538;17348038;17396138;17408991;17525977;17536784;17579612;17624933;17660747;17661202;17678654;17705023;17719207;17726019;17955279;17984171;17984926;17984939;18039581;18173564;18181515;18193148;18337650;18384084;18385926;18445708;18451356;18454941;18494933;18552513;18587628;18596106;18614943;18706914;18783450;18805362;18854308;18939940;18948614;18982242;19011512;19042077;19086053;19103440;19183802;19202335;19205880;19216510;19220958;19221847;19229202;19297317;19307814;19330775;19468240;19482672;19487970;19497163;19558426;19593677;19636631;19654082;19671853;19674846;19812958;19939849;1998503;20036852;20036866;20042890;20093730;20237496;20351179;20398908;20437790;20473040;20509936;20559426;20581773;20587415;20591429;20592382;20604725;20614004;20628824;20686797;20708613;20716661;20947022;20950652;21079180;21112154;21144594;21273622;21303299;21311479;21368691;21376255;21447379;21455324;21458434;21473859;21487066;21504113;21553520;21587126;21601568;21620650;21628886;21640093;21674567;21688665;21714070;21738758;21779383;21810220;21858537;21861214;21861268;21906477;21932834;22011044;22019077;22025532;22177239;22224444;22285378;22286170;22286962;22306257;22322856;22326439;22348227;22359053;22565174;22766253;22782342;22916238;22935566;22982200;23030834;23031665;23053124;23130680;23141161;23146618;23161189;23163123;23169921;23190274;23208248;23261835;23262371;23292665;23297751;23336432;23378728;23380091;23406753;23438158;23523337;23528506;23587577;23590685;23602305;23701298;23705829;23710646;23713736;23755753;23757003;23758329;23796187;23824909;23826805;23856918;23889347;23896207;2394738;23969722;23972702;24063890;24076007;24107912;24211222;24314961;24340553;24358202;24402969;24625912;24627490;2530061;2833519;2964086;3111527;4031854;6487634;7566098;7759097;8202493;8341667;8701470;8750867;8894274;9335118;9519411;9774336;9883272;9923610;9925766 6285 A8MRB1;P04271 AA310307;ABBA01021771;ABBA01021772;AMYH02037963;AMYH02037964;AP000217;AP000339;AP001760;BC001766;BC041935;CH471079;CR542123;EB386131;M59488;NM_006272 AAA60367;AAH01766;ABM83417;ABW03496;CAG46920;EAX09267;EAX09268;EAX09269;EAX09270;NP_006263;P04271 Hs.422181 1741779;1741797;1745379;2116834;2217932 GDB:185164;GDB:185173;GDB:603920;S100B_3127;SHGC-5965 NEF;S100;S100 beta;S100-B;S100beta OTTHUMP00000115888;OTTHUMP00000174958;S-100 calcium-binding protein, beta chain;S-100 protein beta chain;S-100 protein subunit beta;S100 calcium binding protein, beta (neural);S100 calcium-binding protein B;S100 calcium-binding protein, beta (neural);s100 protein, beta polypeptide APPROVED protein-coding HGNC:10500 01505 176990 REVIEWED 5013868 SAA2-SAA4 SAA2-SAA4 readthrough This locus represents naturally occurring read-through transcription between the neighboring serum amyloid A2 and serum amyloid A4 genes on chromosome 11. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] 11 11 p15.1 18252902 18270221 - 18231355 18248674 - 6480464 20889312;20967262 100528017 ABBA01061059;AC090099;AMYH02024387;BG616641;BX117371;NM_001199744 NP_001186673 Hs.731376 1779173;2176097 STS-M81349;STS-N22938 SAA2-SAA2 protein;SAA2-SAA2 read-through transcript APPROVED protein-coding ENSG00000255071 HGNC:39550 VALIDATED 1346983 SAA3P serum amyloid A3 pseudogene INTERACTS WITH cobalt dichloride; 17beta-estradiol (ortholog); 2,2',4,4',5,5'-hexachlorobiphenyl (ortholog) 11 11 11 p15.1 18266336 18269996 - 18134019 18137679 - 18112472 18116132 - 1580863;6480464 12589816;14718574;1755958;2558975;8325654 6290 ABBA01061060;AC090099;AMYH02024387;AY209188;KF459742;NR_026576;S73444;X13895 AAO48437;CAA32096 Hs.454496 1671011;1852394 RH71466;SAA3 SAA3 pseudo ENSG00000166787 HGNC:10515 PROVISIONAL 1352226 SAA@ serum amyloid A1 cluster 1550545 6287 HGNC:10512 1351382 SAA2 serum amyloid A2 INVOLVED IN acute-phase response (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; calcitriol; cyclosporin A 11 11 11 p15.1-p14 18392894 18402488 - 18259780 18270221 - 18238233 18248674 - 1580863;6480464 10524285;11485914;11991719;12077270;12456883;12477932;12557751;12857601;14718574;14871291;15170927;16152805;1656519;16737350;1697614;17207965;17601350;18385816;18977241;1971508;19729864;19913121;20237496;20379614;20628086;20889312;20967262;21103356;22300576;23223242;2890635;3183061;3800865;3950541;7516407;7561109;7636186;7686132;7827140;8089807;8159722;8188252;8783012;8889548;8995276;9252455;9605178;9815279;9823935;9892621 6289 E9PR14;G3V1D9;P0DJI9 ABBA01061059;AC090099;AK307163;AMYH02024387;BC020795;BC058008;BU607521;CB241029;CH471064;J03474;JA514415;L05921;M23699;M23700;M26152;NM_001127380;NM_030754;X51440;X51441;X51442;X51444;X51445;X56653 AAA64800;AAA64801;AAA85338;AAB59539;AAH20795;ADQ32164;CAA35805;CAA35806;CAA35807;CAA35809;CAA35810;CAA39975;CCD62028;EAW68412;EAW68413;EAW68414;NP_001120852;NP_110381;P0DJI9 Hs.731376;Hs.734161 1742563;1849412;1855330;2169469 GDB:197885;RH11624;SHGC-32644;SHGC-6030 OTTHUMP00000233004;OTTHUMP00000233007;OTTHUMP00000233008;OTTHUMP00000233009;serum amyloid A-2 protein protein-coding ENSG00000134339 HGNC:10514 00098 104751 VALIDATED 1606985 SAAL1 serum amyloid A-like 1 INTERACTS WITH copper(2+) sulfate; coumestrol; ozone (ortholog) 11 11 11 p15.1 18234206 18259954 - 18101890 18127638 - 18080343 18106091 - 6480464 12477932;15489334;16169070;19615732;19953087;20360068;21139048;21890473;21906983;21963094;22127701;22505724;22939629;23000965;23181366;23956138;24816145 113174 E9PL53;E9PMD2;E9PRZ1;G1UCX3;H0YCN7;H0YDM3;H0YEK5;J3KND1;Q96ER3 AB489136;ABBA01061060;AC090099;AK123457;AMYH02024387;BC012010;BU150462;CH471064;DR155913;NM_138421 AAH12010;BAG53907;BAK74733;EAW68418;EAW68419;NP_612430;Q96ER3 Hs.591998 2148593 SGC32688 FLJ41463;SPACIA1 OTTHUMP00000232864;OTTHUMP00000232865;OTTHUMP00000232868;OTTHUMP00000232870;synoviocyte proliferation-associated in collagen-induced arthritis 1 protein-coding ENSG00000166788 HGNC:25158 13999 VALIDATED 1607039 SAC3D1 SAC3 domain containing 1 INVOLVED IN centrosome duplication (inferred); mitotic nuclear division (inferred); negative regulation of JAK-STAT cascade (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome (inferred); cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH (S)-colchicine; 17beta-estradiol; adenine 11 11 11 q13.1 62134308 62138231 + 64808376 64812300 + 65040904 65044828 + 6480464;8554872 12477932;15302935;15322101;15342556;16239144;16344560;18838617;8619474;9110174 29901 A6NKF1;F8WC89;H0YEW7 ABBA01024137;AMYH02024950;AMYH02024951;AP003068;AU119957;BC007448;BP253859;CH471076;NM_013299;U79266;XM_005273960;XM_005273961 A6NKF1;AAB50210;EAW74338;EAW74339;NP_037431;XP_005274017;XP_005274018 Hs.23642 1655624;1664377;1782398 RH11499;RH11696;SHGC-154578 HSU79266;SHD1 SAC3 domain-containing protein 1;SAC3 homology domain-containing protein 1;Sac3 homology domain 1 protein-coding ENSG00000168061 HGNC:30179 11558 VALIDATED 733012 SACM1L SAC1 suppressor of actin mutations 1-like (yeast) ENCODES a protein that exhibits phosphatase activity (ortholog); INVOLVED IN metabolic process (inferred); phosphatidylinositol biosynthetic process (inferred); phosphatidylinositol dephosphorylation (inferred); FOUND IN Golgi apparatus; endoplasmic reticulum membrane (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; diazinon 3 3 3 p21.3 45668700 45724522 + 45730754 45786901 + 45689262 45745408 + 6480464 10048485;10887188;11076863;11214970;11230166;11256614;11352561;12477932;12805586;14527956;15489336;16381901;18480408;21139048;21890473;21963094;21988832;22041458;24816145 22908 C9J3E3;C9JV50;E9PGZ4;F8WCQ2;F8WD07;F8WDN7;Q9NTJ5 AB020658;ABBA01024721;AC098476;AJ289880;AJ297357;AK126434;AK291142;AK296421;AK301248;AL136831;AMYH02006667;BC016559;BC033581;CH471055;CR749564;DC317560;NM_014016;XR_427259 AAH16559;BAA74874;BAF83831;BAG54329;BAG59083;BAG62815;CAB66765;CAB95945;CAB96871;CAH18361;CAL37939;EAW64744;EAW64745;EAW64746;NP_054735;Q9NTJ5 Hs.156509 1644672;1716995;2108435;2130184;2145187;2151596 A004I38;D3S3383;RH124044;SACM1L_9284;SHGC-76897;SHGC-76902 DKFZp686A0231;KIAA0851;SAC1 OTTHUMP00000210310;OTTHUMP00000210311;phosphatidylinositide phosphatase SAC1;sac1 (supressor of actin mutations 1, homolog)-like (s. cerevisiae);suppressor of actin 1;suppressor of actin mutations 1-like protein protein-coding ENSG00000211456 HGNC:17059 07587 606569 VALIDATED 5130625 SACS-AS1 SACS antisense RNA 1 13 13 q12 23993110 24003008 + 23418971 23428869 + 14702039;16344560 100506680 ABBA01007875;AK057396;AL354815;AMYH02027693;AW196964;DB022332;DB459589;DB525041;NR_103450 Hs.253280 FLJ32834 APPROVED ncrna ENSG00000229558 HGNC:39835 VALIDATED 1316383 SACS sacsin molecular chaperone This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 13 13 13 q12 4965968 5070846 - 23902962 24007867 - 23328823 23433728 - 1580863;6480464;7240710;8554872;8699517 10610707;10655055;11788093;12477932;14702039;14718706;14718707;14718708;15057823;15156359;15174051;15985586;16198375;16344560;16606928;16713569;17290461;17716690;17853117;18398442;18464913;18465152;18484239;18604465;19031088;19208651;19389623;19529988;19779133;19880797;19892370;20085233;20301317;20301432;20488193;20852969;20876471;20972266;21135390;21139048;21410841;21416271;21450511;21507954;21597885;21625752;21726565;21745802;21906983;22209141;22287014;22307627;22441213;22493691;22751902;22805644;22816526;22892508;23000965;23043354;23077228;23123642;23250129;23280630;23300278;23338241;23598833;23671107;24180463;24250222;24457356;24816145;8421971;9872452 26278 B2REB0;H0Y6M8;Q9NZJ4 AB018273;ABBA01007874;ABBA01007875;ABBA01007876;AF193556;AK024708;AK090599;AK125458;AL157766;AL354815;AMYH02027693;AW295072;AW296712;BC039418;BX640926;CH471075;CR749427;CR987846;DB213398;DB309987;NG_012342;NM_001278055;NM_014363;XM_005266338 AAF31262;BAA34450;BAC03486;CAE45964;CAH18265;EAX08323;NP_001264984;NP_055178;Q9NZJ4;XP_005266395 Hs.159492 1646670;1737493;1749301;2109795;2114092;2120715;2124522;2167386;2167388 AB056815;D13S1034;NIB226;RH45763;RH79003;SACS_9479;SHGC-110974;SHGC-37589;SHGC-53325 DKFZp686B15167;DNAJC29;PPP1R138;SPAX6 ARSACS;OTTHUMP00000018109;dnaJ homolog subfamily C member 29;sacsin;spastic ataxia of Charlevoix-Saguenay (sacsin) APPROVED protein-coding ENSG00000151835 HGNC:10519 05135 270550;604490 REVIEWED 1342747 SAFB2 scaffold attachment factor B2 ENCODES a protein that exhibits identical protein binding; poly(A) RNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular membrane-bounded organelle; nucleus; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; arsenite(3-) 19 19 19 p13.3 5524361 5560295 - 5587007 5622991 - 5586996 5622927 - 1580863;6480464 12477932;12660241;14587024;14702039;15057824;15174051;15302935;15345747;15489334;15576338;16169070;16195251;17081983;17803295;18781797;19077293;19137425;19471022;19674106;19901029;20562859;21098080;21139048;21145461;21693764;21810271;21890473;21906983;21963094;21988832;22178446;22566185;22939629;23000965;24250222;24457600;24654937;24816145;25027693;8590280 9667 K7EQU4;K7ERX3;Q14151 ABBA01056003;AC004611;AK123246;AK296552;AK300501;AMYH02035327;AW136754;BC001216;BC014784;BC025279;CH471139;D50928;DB475007;NM_014649;XM_005259688 AAC14666;AAH14784;AAH25279;BAA09487;BAG59175;BAG62215;EAW69165;NP_055464;Q14151;XP_005259745 Hs.655392 1649777;1689993;1738977;1773780;2143798 D19S1086;D19S800;RH25361;RH42000;RH80655 KIAA0138;SAF-B2 protein-coding ENSG00000130254 HGNC:21605 06424 608066 VALIDATED 1604646 SAE1 SUMO1 activating enzyme subunit 1 Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010] 19 19 19 q13.32 44437959 44517752 + 47634080 47713893 + 47130782 47210636 + 6480464;6907045;8554872 10187858;10217437;11042152;11451954;11481243;11792325;12477932;12641448;12821332;12924945;12941704;14702039;15146197;15489334;15546615;15660128;16147992;16189514;16344560;16421094;16620772;17353931;18029348;18781797;19246003;19307308;19471022;21139048;21209321;21832049;21833088;21890473;21906983;21963094;21987572;21988832;22157079;22403398;22505724;22863883;22884621;22939629;23000965;23824909;24816145;25027693;9920803 10055 B3KNJ4;B4DY66;M0QX65;M0QYM8;M0QYP2;M0QZS6;M0R054;M0R286;M0R375;Q9UBE0 ABBA01041005;ABBA01041006;ABBA01041007;ABBA01041008;ABBA01041009;ABBA01041010;ABBA01041011;ABBA01041012;ABBA01041013;AC008532;AC008755;AF046025;AF090385;AF110956;AF161489;AI339364;AK021978;AK027595;AK055481;AK090645;AK302287;AK315624;AMYH02036245;AMYH02036246;AMYH02036247;AMYH02036248;AMYH02036249;BC000344;BC003611;BC018271;BC128518;BC128519;BT007290;CH471126;CN386158;DA047601;DA086973;DC297573;DC312737;NM_001145713;NM_001145714;NM_005500;NR_027280;XM_006722963;XM_006722964;XM_006722965 AAD12785;AAD23902;AAD24433;AAF29104;AAH00344;AAH03611;AAH18271;AAP35954;ABM82677;ABM85858;BAG37992;BAG51064;BAG51356;BAG63628;EAW57460;EAW57461;EAW57462;EAW57463;EAW57464;NP_001139185;NP_001139186;NP_005491;Q9UBE0;XP_006723026;XP_006723027;XP_006723028 Hs.515500 1644965;1678213;1699650 RH103429;RH94318;WI-22443 AOS1;FLJ3091;HSPC140;SUA1;UBLE1A SUMO-1 activating enzyme E1 N subunit;SUMO-1 activating enzyme subunit 1;SUMO-activating enzyme subunit 1;activator of SUMO1;sentrin/SUMO-activating protein AOS1;ubiquitin-like 1-activating enzyme E1A;ubiquitin-like protein SUMO-1 activating enzyme APPROVED protein-coding ENSG00000142230 HGNC:30660 18010 613294 VALIDATED 736449 SAG S-antigen; retina and pineal gland (arrestin) Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 227937838 227977217 + 234216309 234255701 + 233307663 233347055 + 734491;1580863;6480464;6893539;6893556;7240710;8547536;8547535;8554872;8699517 20212494;21824527;22074925;23701314;7670478 10952973;12107411;12477932;1325454;15232620;15234147;15295660;1533347;15713799;15815621;17286855;17332750;17620599;18175313;18413662;18685727;1917988;20301590;20705733;20801516;21288033;21904838;21922265;21987685;22412388;22419846;2249983;23277586;24430184;2550422;3164688;7566098;7695743;8617782;8889548;9020843;9501883 6295 B7Z7L5;C9JSX4;E7ESX4;F8WCN5;P10523 AA317634;ABBA01001947;AC013726;AK302211;AMYH02006003;AMYH02006004;BC144203;BQ636469;BQ636894;BQ639030;BQ639460;BU734369;BX491422;BX537502;BX537649;BX641043;BX647821;BX647827;CH471063;DQ980618;DQ980619;DQ980620;M38064;NG_009116;NM_000541;U70962;U70976;X12453;XM_005246099;XM_005246100 AAC50992;AAI56657;AAP03721;AAY14861;ABJ97141;BAH13651;CAA30983;CAA30984;CAD97766;CAE46025;EAW71041;EAW71042;EAW71043;EAW71044;EAW71045;NP_000532;P10523;XP_005246156;XP_005246157 Hs.32721 1673522;1741897;1745881;1761557;1851567;2120331;5015861;5020948;5022576;5022578;5024413;5037552;5109281;7185938 D10S16;D1S1361;D1S1423;D1S1425;D8S2279;G35510;GDB:186559;GDB:681367;L17877;RH12582;RH18086;RH71255;SHGC-145552 DKFZp686D1084;DKFZp686I1383;RP47;S-AG 48 kDa protein;OTTHUMP00000203381;S-arrestin;arrestin 1;retinal S-antigen (48 KDa protein);retinal s-antigen;rod photoreceptor arrestin APPROVED protein-coding ENSG00000130561 HGNC:10521 01625 181031;258100;613758 REVIEWED 1344330 SAI1 suppression of anchorage independence 1 6298 HGNC:10523 154280 1316532 SAA4 serum amyloid A4, constitutive INVOLVED IN acute-phase response (inferred); PARTICIPATES IN lipid metabolic pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 11 11 11 p15.1-p14 18385194 18390662 - 18252902 18258384 - 18231355 18236837 - 1579981;1580863;6480464 7775864 11169201;11256804;11752456;12410800;12477932;1439582;14718574;15489334;16189514;16335952;16712791;1740433;19913121;20237496;20536400;20628086;20855565;20967262;23631828;6411718;7686132;8159722;8188252;8325654;8783012;8889548;8995276;9815279 6291 P35542 ABBA01061059;AC090099;AK312182;AMYH02024387;AV699045;BC007026;BG569210;BU685219;CB113387;CH471064;CR541758;M81349;NM_006512;S48983 AAA60298;AAB24060;AAH07026;BAG35115;CAG46558;EAW68415;NP_006503;P35542 Hs.1955 1779173;2107561;2176097 SAA4_7869;STS-M81349;STS-N22938 C-SAA;CSAA OTTHUMP00000233012;constitutively expressed serum amyloid A protein;serum amyloid A-4 protein protein-coding ENSG00000148965 HGNC:10516 00099 104752 VALIDATED 1352077 SAGE1 sarcoma antigen 1 This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas. [provided by RefSeq, Jul 2008] X X X q26 135335486 135355129 + 134975785 134995221 + 135893634 135913061 + 6480464;8554872 10919659;12477932;16061876;18029348 55511 F5H2Z8;Q9NXZ1 ABBA01055839;ABBA01055840;AC240441;AJ278111;AK310412;AL590618;AL953870;AMYH02040568;BC144260;BF056519;CD358947;CH471150;NG_012571;NM_018666;XM_006724764 AAI44261;CAB92443;EAW88486;NP_061136;Q9NXZ1;XP_006724827 Hs.195292 1701706 DXS7888 CT14;SAGE OTTHUMP00000024088;cancer/testis antigen 14;putative tumor antigen APPROVED protein-coding ENSG00000181433 HGNC:30369 02290 300359 REVIEWED 1350763 SALL1P1 spalt-like transcription factor 1 pseudogene 1 X X X p11.23 53497848 53502810 - 49428331 49433293 - 49663728 49668690 - 10343095 139163 ABBA01063271;ABBA01063272;AC142496;AC142497;AC231643;AJ010104;AMYH02039349;NG_009881 SALL1P APPROVED pseudo HGNC:10525 INFERRED 1320515 SALL1 spalt-like transcription factor 1 The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q12.1 35686254 35701557 - 51169886 51185183 - 51135975 51152314 - 1599551;1599553;1580863;6480464;7240710;8554872;8699517 11102974;16088922 10533063;10928856;10965108;11484202;11511981;11751684;11836251;12065233;12200128;12395297;12477932;15158448;15342556;16221172;16344560;16429401;16443351;16545361;16670092;16971658;17426652;17910067;18000979;18024993;18280297;18297069;18470945;19005989;19213029;19247946;19440552;19471022;19942929;20301618;20548946;20634891;21062744;21139048;21300955;21532573;22308078;22504420;23069192;23643386;24165912;8975705;9425907;9973281 6299 H3BQ32;H3BSM9;Q9NSC2 ABBA01000861;AC009166;AF017655;AF074949;AK295103;AK307835;AMYH02032021;BC113881;BC113906;BC131548;BP229682;CH471092;DA318592;EU668343;NG_007990;NM_001127892;NM_002968;X98833;XM_006721241;Y18264;Y18265 AAB99908;AAF19263;AAI13882;AAI13907;AAI31549;AAI67772;ACF94496;BAG58138;CAB41399;CAB41400;EAW82777;NP_001121364;NP_002959;Q9NSC2;XP_006721304 Hs.135787 1689690;2160249;2184924;2220008 AF021116;RH47686;SALL1__5538;SHGC-9504 HEL-S-89;HSAL1;Sal-1;TBS;ZNF794 OTTHUMP00000164231;epididymis secretory protein Li 89;sal-like protein 1;zinc finger protein 794;zinc finger protein SALL1;zinc finger protein Spalt-1 APPROVED protein-coding ENSG00000103449 HGNC:10524 03742 107480;602218 REVIEWED 1345005 SALL2 spalt-like transcription factor 2 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Coloboma (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; bisphenol A 14 14 14 q11.1-q12 1852573 1868687 - 21989231 22005337 - 21521080 21537203 - 1580863;6480464;8699517;8554872 12168954;12477932;14507652;14702039;15082782;16189514;16545361;18655026;19060904;19131967;19247946;20634891;21228219;21362508;21532573;21791360;21890473;23029531;23273547;8188290;8889548;8975705;9110172;9205841 6297 B4DK65;E7EW59;F5H1G6;F5H433;H0YFS7;Q9Y467 AB002358;ABBA01061256;ABBA01061257;AE000521;AF465630;AK001276;AK289358;AK293574;AK294051;AK296414;AK299931;AL161747;AMYH02028842;BC024245;BC090958;BC136528;BC136529;BI823697;BM698506;CH471078;DC306696;DC307767;DC309911;DT216192;NG_001332;NM_001291446;NM_001291447;NM_005407;NR_111966;NR_111967;X98834;XM_005267983 AAH24245;AAH90958;AAI36529;AAI36530;AAL74188;BAA21638;BAF82047;BAG57044;BAG57400;BAG59077;BAG61764;EAW66377;EAW66378;NP_001278375;NP_001278376;NP_005398;Q9Y467;XP_005268040 Hs.416358;Hs.745364 1761545;1769797;2108437 SALL2_8607;SHGC-145541;WI-14198 COLB;FLJ10414;FLJ55746;HSAL2;KIAA0360;Sal-2;ZNF795;p150(Sal2) OTTHUMP00000239557;sal-like protein 2;zinc finger protein 795;zinc finger protein SALL2;zinc finger protein Spalt-2 APPROVED protein-coding ENSG00000165821 HGNC:10526 03743 216820;602219 VALIDATED 1321014 SALL3 spalt-like transcription factor 3 This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011] 18 18 18 q23 73515295 73533238 + 76740275 76759770 + 78980275 78998969 + 1580863;6480464;8554872 10610715;12477932;16545361;18029348;18668548;19139273;19247946;20634891;21532573;21890473;22589738;22690083;23535732 27164 A9JR48;I3L3L8;Q9BXA9 ABBA01013882;ABBA01013883;AC099689;AC214178;AF347021;AI569735;AJ007421;AMYH02035051;AMYH02035052;AW956238;BC148296;CH471117;NG_030353;NM_171999 AAI48297;AAK18311;CAB65124;EAW66608;NP_741996;Q9BXA9 Hs.700557 2132067;2135583 RH12091;WI-15059 ZNF796;hSALL3 C2H2 zinc finger protein SALL3;OTTHUMP00000163810;sal-like protein 3;spalt-like zinc finger protein;zinc finger protein 796;zinc finger protein SALL3 APPROVED protein-coding ENSG00000256463 HGNC:10527 05467 605079 REVIEWED 5130646 SALL4P2 spalt-like transcription factor 4 pseudogene 2 X X X q26.1 129391780 129398050 + 129005276 129011546 + 129871300 129877570 + 100130259 ABBA01047850;ABBA01047851;AL034405;AMYH02040464;NG_022702 1701998 DXS7910 APPROVED pseudo HGNC:39819 INFERRED 733074 SAFB scaffold attachment factor B This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an estrogen receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] 19 19 19 p13.3-p13.2 5560521 5605843 + 5623046 5668489 + 5623035 5668478 + 1580863;6480464 10212141;10707955;10809782;10933876;11118435;11207044;11509566;11784858;12403786;12477932;12660241;12837281;12890497;1324173;14559993;14587024;14667819;14702039;14702179;15057824;15066997;15146197;15302935;15576338;16159877;16169070;16195251;16326836;16475161;16964243;17081983;17643375;17643427;18029348;18154639;18772145;19077293;19106221;19137425;19282290;19322201;19471022;19615732;19674106;19901029;20085233;20562859;21130767;21139048;21145461;21527249;21693764;21890473;21900206;21906983;21963094;22113938;22174317;22178446;22354994;22446626;22566185;22939629;22963397;22990118;23000965;23125841;23151878;23893242;24055346;24250222;24457600;24639526;24654937;24816145;25027693;8600450;9328833;9605873;9671816 6294 B7Z2F6;K7EII0;K7ES42;Q15424 AB208780;ABBA01056003;AC004611;AC011499;AC134303;AK095736;AK290444;AK293152;AK294671;AK294718;AK295298;AK298707;AK299525;AK304474;AK307970;AMYH02035327;AMYH02035328;AMYH02035329;AMYH02035330;BC020309;BC032055;BC126219;BC143937;BC143938;BC143939;CH471139;CN271637;CR749251;L43631;NM_001201338;NM_001201339;NM_001201340;NM_002967;NR_037699;U72355;XM_006722839 AAC00056;AAC14667;AAC18697;AAI26220;AAI43938;AAI43939;AAI43940;BAD92017;BAF83133;BAH11463;BAH11842;BAH11859;BAH12027;BAH12852;BAH13059;BAH14195;CAH18107;EAW69161;EAW69162;EAW69163;EAW69164;NP_001188267;NP_001188268;NP_001188269;NP_002958;Q15424;XP_006722902 Hs.728802 1643604;1649777;1683227;2122307;2129532;5016348 A008W44;RH25361;RH47536;RH93302;WI-16093;WIAF-2223 DKFZp779C1727;HAP;HET;SAB-B1;SAF-B;SAF-B1;SAFB1 HSP27 ERE-TATA-binding protein;HSP27 estrogen response element-TATA box-binding protein;Hsp27 ERE-TATA binding protein;glutathione S-transferase fusion protein;heat-shock protein (HSP27) estrogen response element and TATA box-binding protein;scaffold attachment factor B1 APPROVED protein-coding ENSG00000160633 HGNC:10520 04205 602895 REVIEWED 5130641 SALL4P1 spalt-like transcription factor 4 pseudogene 1 5 5 5 53673146 53674945 + 56718293 56720092 + 57422466 57424265 + 100419717 ABBA01015777;AC025470;AMYH02011342;NG_024673 APPROVED pseudo HGNC:39818 INFERRED 1351271 SALL4 spalt-like transcription factor 4 The protein encoded by this gene may be a zinc finger transcription factor. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). [provided by RefSeq, Jul 2008] 20 20 20 q13.2 47105283 47123757 - 50400551 50419059 - 51784012 51802509 - 1580863;6480464;7240710;8554872;8699517 12393809;12395297;12477932;12843316;14702039;15286162;15329836;15342710;15386473;15489334;16086360;16344560;16402211;16411190;16545361;16763212;17256792;17546590;17557835;17623483;18299846;18414659;18487508;18519826;19060217;19099625;19151334;19247946;19295406;19322201;19390421;19440552;19471022;19476507;19478329;19574883;19581335;19619907;19781444;19820689;20182341;20301547;20505821;20634891;21057460;21258884;21274508;21405998;21417895;21468036;21526180;21725617;22128185;22448662;22516245;22555391;22743134;22832114;22934838;23012367;23112162;23122807;23201546;23287862;23347651;23363002;23432194;23687435;23758232;23811124;23822878;23954296;24012616;24051379;24463278;24525512;24805857 57167 Q6Y8G5;Q9UJQ4 ABBA01052810;AI638036;AK001666;AL034420;AMYH02037266;AY170621;AY170622;AY172738;BC111714;CH471077;DB066881;NG_008000;NM_020436;XM_005260467;XM_006723834;XM_006723835 AAI11715;AAO16566;AAO16567;AAO44950;EAW75595;EAW75596;NP_065169;Q9UJQ4;XP_005260524;XP_006723897;XP_006723898 Hs.517113 1643870;1651535 AL022348;RH46384 DRRS;HSAL4;MGC133050;ZNF797;dJ1112F19.1 OTTHUMP00000031296;OTTHUMP00000165811;sal-like protein 4;zinc finger protein 797;zinc finger protein SALL4 APPROVED protein-coding ENSG00000101115 HGNC:15924 08458 147750;607323;607343 REVIEWED 5130640 SALL4P4 spalt-like transcription factor 4 pseudogene 4 13 13 13 92681609 92682194 - 111834458 111835043 - 111182111 111182696 - 100419855 ABBA01026987;AL390754;AMYH02028715;NG_024884 APPROVED pseudo HGNC:39821 INFERRED 6483006 SALL4P7 spalt-like transcription factor 4 pseudogene 7 14 14 14 q23.1 41010726 41013736 - 60960581 60963591 - 60493863 60496873 - 390483 ABBA01018282;AL122057;AMYH02029295;NG_022841 APPROVED pseudo HGNC:43900 INFERRED 5130654 SALL4P6 spalt-like transcription factor 4 pseudogene 6 3 3 3 p22.1 42301596 42303283 + 42362497 42364184 + 42321005 42322692 + 391530 ABBA01024771;AC018358;AC092048;AMYH02006625;NG_022248 APPROVED pseudo HGNC:39823 INFERRED 1343473 SAMD1 sterile alpha motif domain containing 1 FOUND IN cytoplasm (inferred); extracellular region (inferred); INTERACTS WITH (-)-demecolcine; ampicillin; cadmium atom 19 19 19 p13.12 14093031 14122123 - 14199229 14201232 - 14088417 14090420 - 6480464 12477932;16159594;19322201;19531213;22939629;24163370;25027693 90378 E9PIW9;F8WDT5;Q6SPF0 ABBA01029689;ABBA01029690;ABBA01029691;ABBA01029692;AC022098;AMYH02035599;AMYH02035600;AY453840;BC007384;BC030129;BC065477;BC080588;CH471106;NM_138352 AAH07384;AAH30129;AAH65477;AAH80588;AAR24087;EAW84396;NP_612361;Q6SPF0 Hs.140309 1682215;1798016;1854453;2144790;2148900;2150666;2181589 D1S3205;PRKACA__2119;RH47780;RH65125;RH69574;SHGC-64129;STS-N57750 OTTHUMP00000233858;OTTHUMP00000240510;SAM domain containing 1;SAM domain-containing protein 1;atherin;sterile alpha motif domain-containing protein 1 protein-coding HGNC:17958 18011 PROVISIONAL 1351691 SAMD10 sterile alpha motif domain containing 10 INTERACTS WITH dibutyl phthalate (ortholog); valproic acid (ortholog) 20 20 20 q13.33 59292100 59297628 - 62605466 62611182 - 63974113 63979733 - 6480464 11780052;12477932;15489334;16341674;23535732 140700 Q5JWV3;Q9BYL1 ABBA01021435;AI866764;AL118506;AMYH02037478;AMYH02037479;BC041436;BC067362;BM839907;CH471077;NM_080621;XM_005260199;XM_006723705 AAH67362;EAW75180;EAW75181;NP_542188;Q9BYL1;XP_005260256;XP_006723768 Hs.27189 1680419 RH44234 C20orf136;dJ591C20;dJ591C20.7 D930033N23Rik;OTTHUMP00000031619;SAM domain-containing protein 10;sterile alpha motif domain-containing protein 10 protein-coding ENSG00000130590 HGNC:16129 15292 VALIDATED 6908156 SAMD11P1 sterile alpha motif domain containing 11 pseudogene 1 17 17 17 2533266 2533953 - 2516576 2517263 - 2613282 2613969 - 100421331 ABBA01054717;AC015799;AMYH02032783;NG_026140 pseudo HGNC:44473 INFERRED 5130644 SALL4P3 spalt-like transcription factor 4 pseudogene 3 16 16 16 p12.3 19316170 19319214 + 20166904 20169948 + 20155582 20158626 + 100131046 ABBA01028277;AC021089;AC092132;AMYH02031659;NG_022510 1337939;1731383;1738821;1753541 D16S2881;D16S3099;D16S383;SHGC-107476 APPROVED pseudo HGNC:39820 INFERRED 1606448 SAMD13 sterile alpha motif domain containing 13 INTERACTS WITH (+)-catechin; calcitriol; copper(2+) sulfate 1 1 1 p31.1 83008265 83060708 + 84764049 84816481 + 84298366 84350798 + 6480464 12477932;14702039;16710414;23251661 148418 H7BZX5;Q5VXD3 ABBA01045657;ABBA01045658;AK056937;AL359273;AMYH02001376;BC037973;BF000472;CH471097;DB459148;KF454962;NM_001010971;NM_001134663;NM_001134664 BAG51830;EAW73240;EAW73241;EAW73242;EAW73243;NP_001010971;NP_001128135;NP_001128136;Q5VXD3 Hs.591445 1692386;1706608;1775160;2175841 AL009765;AL033841;D1S1710;SHGC-82703 RP11-376N17.1 OTTHUMP00000011475;OTTHUMP00000011476;OTTHUMP00000011477;OTTHUMP00000011478;OTTHUMP00000011479;OTTHUMP00000206814;SAM domain-containing protein 13;dnaj-like protein (LOC148418);sterile alpha motif domain-containing protein 13 protein-coding ENSG00000203943 HGNC:24582 17302 VALIDATED 1353453 SAMD11 sterile alpha motif domain containing 11 ENCODES a protein that exhibits PH domain binding (inferred); protein self-association (inferred); SAM domain binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; phenobarbital; progesterone 1 1 1 p36.33 1711838 1728177 - 859993 879961 + 925741 944581 + 737633;6480464;8554872 12477932 14702039;15146197;15489334;16710414;23978614 148398 A6PWC8;H7BY14;H7C3J6;Q5SV95;Q96NU1 ABBA01016004;AK054643;AL645608;AMYH02000070;AMYH02000071;BC024295;BC033213;BM055062;CH471183;CN293867;CN342795;JX093066;JX093067;JX093068;JX093069;JX093070;JX093071;JX093072;JX093073;JX093074;JX093075;JX093076;JX093077;JX093078;JX093079;JX093080;JX093081;JX093082;JX093083;JX093084;JX093085;JX093086;JX093087;JX093088;JX093089;JX093090;JX093091;JX093092;JX093093;JX093094;JX093095;JX093096;JX093097;JX093098;JX093099;JX093100;JX093101;JX093102;JX093103;JX093104;JX093105;JX093106;JX093107;JX093108;JX093109;JX093110;NM_152486 AAH24295;AAH33213;AFP36417;AFP36418;AFP36419;AFP36420;AFP36421;AFP36422;AFP36423;AFP36424;AFP36425;AFP36426;AFP36427;AFP36428;AFP36429;AFP36430;AFP36431;AFP36432;AFP36433;AFP36434;AFP36435;AFP36436;AFP36437;AFP36438;AFP36439;AFP36440;AFP36441;AFP36442;AFP36443;AFP36444;AFP36445;AFP36446;AFP36447;AFP36448;AFP36449;AFP36450;AFP36451;AFP36452;AFP36453;AFP36454;AFP36455;AFP36456;AFP36457;AFP36458;AFP36459;AFP36460;AFP36461;BAB70781;EAW56307;NP_689699;Q96NU1 Hs.335293 1762901;1781562;2129521;2176080 SHGC-145703;SHGC-146656;SHGC-74080;SHGC-74122 MGC45873 OTTHUMP00000038427;OTTHUMP00000178963;SAM domain-containing protein 11;sterile alpha motif domain containing 11 splice variant ASV1;sterile alpha motif domain containing 11 splice variant ASV10;sterile alpha motif domain containing 11 splice variant ASV11;sterile alpha motif domain containing 11 splice variant ASV12;sterile alpha motif domain containing 11 splice variant ASV13;sterile alpha motif domain containing 11 splice variant ASV14;sterile alpha motif domain containing 11 splice variant ASV15;sterile alpha motif domain containing 11 splice variant ASV16;sterile alpha motif domain containing 11 splice variant ASV17;sterile alpha motif domain containing 11 splice variant ASV18;sterile alpha motif domain containing 11 splice variant ASV19;sterile alpha motif domain containing 11 splice variant ASV2;sterile alpha motif domain containing 11 splice variant ASV20;sterile alpha motif domain containing 11 splice variant ASV21;sterile alpha motif domain containing 11 splice variant ASV22;sterile alpha motif domain containing 11 splice variant ASV23;sterile alpha motif domain containing 11 splice variant ASV24;sterile alpha motif domain containing 11 splice variant ASV25;sterile alpha motif domain containing 11 splice variant ASV26;sterile alpha motif domain containing 11 splice variant ASV27;sterile alpha motif domain containing 11 splice variant ASV28;sterile alpha motif domain containing 11 splice variant ASV29;sterile alpha motif domain containing 11 splice variant ASV3;sterile alpha motif domain containing 11 splice variant ASV30;sterile alpha motif domain containing 11 splice variant ASV31;sterile alpha motif domain containing 11 splice variant ASV32;sterile alpha motif domain containing 11 splice variant ASV33;sterile alpha motif domain containing 11 splice variant ASV34;sterile alpha motif domain containing 11 splice variant ASV35;sterile alpha motif domain containing 11 splice variant ASV36;sterile alpha motif domain containing 11 splice variant ASV37;sterile alpha motif domain containing 11 splice variant ASV38;sterile alpha motif domain containing 11 splice variant ASV39;sterile alpha motif domain containing 11 splice variant ASV4;sterile alpha motif domain containing 11 splice variant ASV40;sterile alpha motif domain containing 11 splice variant ASV41;sterile alpha motif domain containing 11 splice variant ASV42;sterile alpha motif domain containing 11 splice variant ASV43;sterile alpha motif domain containing 11 splice variant ASV44;sterile alpha motif domain containing 11 splice variant ASV45;sterile alpha motif domain containing 11 splice variant ASV5;sterile alpha motif domain containing 11 splice variant ASV6;sterile alpha motif domain containing 11 splice variant ASV7;sterile alpha motif domain containing 11 splice variant ASV8;sterile alpha motif domain containing 11 splice variant ASV9;sterile alpha motif domain-containing protein 11 protein-coding ENSG00000187634 HGNC:28706 10081 VALIDATED 2300135 SAMD12-AS1 SAMD12 antisense RNA 1 8 8 q24.12 119633240 119738306 + 118621001 118726067 + 10737800;16344560 552860 ABBA01037806;ABBA01037807;ABBA01037808;ABBA01037809;AMYH02018670;AMYH02018671;AMYH02018672;AP003468;AP004217;BE069098;BF368547;DB096108;NR_038210 Hs.571527 C8orf26;NCRNA00252 APPROVED ncrna HGNC:30937 VALIDATED 5130645 SALL4P5 spalt-like transcription factor 4 pseudogene 5 3 3 3 p24.3 22967274 22969030 + 23031314 23033070 + 22989823 22991579 + 100130785 ABBA01025049;AC135253;AMYH02006396;NG_022241 APPROVED pseudo HGNC:39822 INFERRED 1602057 SAMD14 sterile alpha motif domain containing 14 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; diazinon; 3,4-methylenedioxymethamphetamine (ortholog) 17 17 17 q21.33 44650150 44667284 - 48188673 48207246 - 50111309 50129882 - 6480464;8554872 12477932;14702039;15146197;15489334;18823374;21829388;22415137;8125298;8619474;8889548;9110174 201191 B3KTM3;D6RA16;J3KN99;Q8IZD0 ABBA01041227;AC002401;AF035306;AK054843;AK094209;AK095809;AK225767;AK291482;AMYH02033584;AY148482;BC029872;BC047081;BC136485;BC141822;BC142728;BM973393;CH471109;CN369613;NM_001257359;NM_174920;XM_005257132;XM_006721752;XM_006721753 AAH29872;AAH47081;AAI36486;AAI41823;AAI42729;AAN71008;BAF84171;BAG52844;BAG53135;EAW94640;EAW94641;NP_001244288;NP_777580;Q8IZD0;XP_005257189;XP_006721815;XP_006721816 Hs.567769 1664004;1740071;1746723;1771270 AI839049;D17S1781;IB663;RH11762 FLJ30281;FLJ36890 OTTHUMP00000220961;OTTHUMP00000220962;OTTHUMP00000220963;SAM domain-containing protein 14;sterile alpha motif domain-containing protein 14 protein-coding ENSG00000167100 HGNC:27312 14127 VALIDATED 1606691 SAMD15 sterile alpha motif domain containing 15 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; methyl methanesulfonate; valproic acid 14 14 14 q24.3 57882338 57896164 + 77843762 77857587 + 77377133 77391296 + 6480464;8554872 12477932;12508121;14702039;15489334 161394 G3V2Z3;Q9P1V8 ABBA01030651;ABBA01030652;ABBA01030653;AC007954;AK093282;AK292571;AMYH02029570;BC104834;BC104836;CH471061;NM_001010860;XM_006720069 AAF62561;AAI04835;AAI04837;BAF85260;EAW81284;NP_001010860;Q9P1V8;XP_006720132 Hs.421961 1701424 RH104344 C14orf174;FAM15A;FLJ35963;MGC132494;MGC132496 OTTHUMP00000235925;SAM domain-containing protein 15;SAM domain-containing protein C14orf174;family with sequence similarity 15, member A;sterile alpha motif domain-containing protein 15 APPROVED protein-coding HGNC:18631 16618 PROVISIONAL 1353343 SAMD5 sterile alpha motif domain containing 5 INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; aflatoxin B1 6 6 6 q24.3 148570287 148631616 + 147829807 148058677 + 147508692 147570021 + 6480464 12477932;20041166;23251661 389432 H3BS43;Q5TGI4 ABBA01025712;AL034350;AL354880;AMYH02014666;BC020896;BX642659;CB988162;NM_001030060 NP_001025231;Q5TGI4 Hs.567973 1650524;1700816;2152132;5016851 D6S1438;RH104033;RH80031;STS-AA039713 dJ875H10.1 OTTHUMP00000017385;SAM domain containing 1;SAM domain-containing protein 5;sterile alpha motif domain-containing protein 5 protein-coding ENSG00000203727 HGNC:21180 VALIDATED 1322660 SAMD3 sterile alpha motif domain containing 3 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene 6 6 6 q23.1 131211871 131290516 - 130465447 130686570 - 130144302 130365425 - 6480464;8554872 12477932;14702039;16189514;16344560;18391951;20602751;20978832;23455924;23534349 154075 E9PPN0;E9PR28;E9PR45;E9PRU9;E9PS85;H0YEH9;Q8N6K7 ABBA01025900;ABBA01025901;AI129628;AK091351;AK091882;AK302228;AK310075;AL121947;AL355581;AMYH02014476;AMYH02014477;AMYH02014478;AMYH02014479;BC029851;BC119757;BC119758;BC127653;BC127654;CH471051;DA584636;DB509479;KF458284;LK939079;NM_001017373;NM_001258275;NM_001277185;XM_005266828 AAH29851;AAI19758;AAI19759;AAI41507;BAC03644;BAC03765;BAG63582;EAW48069;EAW48070;NP_001017373;NP_001245204;NP_001264114;Q8N6K7;XP_005266885 Hs.440508 1713455 RH119586 FLJ34563;MGC35163 OTTHUMP00000017193;OTTHUMP00000017194;OTTHUMP00000017195;OTTHUMP00000233213;OTTHUMP00000233239;SAM domain-containing protein 3;sterile alpha motif domain-containing protein 3 protein-coding ENSG00000164483 HGNC:21574 11530 VALIDATED 1605980 SAMD4B sterile alpha motif domain containing 4B ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cobalt dichloride; paracetamol 19 19 19 q13.2 36634788 36677224 + 39833108 39876340 + 39342468 39385700 + 6480464;8554872 12477932;14702039;15302935;15324660;15489334;16221671;16964243;17353931;19322201;19913121;20510020;20628086;21139048;22939629;23251661;23667531;24255178 55095 M0QX45;M0QXV2;M0QY61;M0QZ22;M0QZW7;M0R0X3;Q5PRF9 ABBA01040729;AC005239;AC011445;AK001073;AK091041;AK128884;AMYH02036092;BC039652;BC054518;BC065211;BC080641;CH471126;EF601121;NM_018028;XM_005259028;XM_005259029;XM_005259030;XM_006723256;XM_006723257 AAH39652;AAH54518;AAH65211;AAH80641;ABQ85549;BAA91493;EAW56875;EAW56876;EAW56877;EAW56878;EAW56879;NP_060498;Q5PRF9;XP_005259085;XP_005259086;XP_005259087;XP_006723319;XP_006723320 Hs.612332;Hs.707137 1648083;1769713 G19397;STS-AA024814 FLJ10211;MGC99832;SMGB;hSmaug2 SAM domain-containing protein 4B;protein Smaug homolog 2;smaug 2;smaug homolog B;sterile alpha motif domain-containing protein 4B protein-coding ENSG00000179134 HGNC:25492 10960 PROVISIONAL 1317420 SAA1 serum amyloid A1 This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Jun 2012] 11 11 11 p15.1 18420115 18423777 + 18287754 18306424 + 18266261 18269977 + 1580863;6480464;8554872 10531386;10753626;11592044;11830469;11946204;12011456;12031974;12056504;12077270;12410800;12456883;12477932;12557751;1259755;12606051;12687559;12762135;12762136;12857601;12973732;14696796;14718574;14738910;14871291;15018633;15161744;15170927;15188355;15225640;1546977;15489334;15561721;15729583;15910745;15972323;16011988;16118480;16120612;16152805;16155472;16219644;16236134;1656519;16651021;16737350;16864904;1697614;17015746;17039260;17039310;17237436;17329325;17461519;17552057;17676666;17806085;17849429;17968686;18299466;18322992;18385816;18566366;18571179;18695905;18726069;18768891;19007930;19167353;19171342;19199708;19453393;19549924;1971508;19726303;19729864;19755416;19758820;19833744;19850938;19913121;19922330;19925664;20022911;20061576;2017667;20177146;20184536;20237496;20435930;20463814;20502455;20628086;20677144;20713982;20853849;20869715;20877498;20964562;20979827;21067563;21103356;21103663;21124955;21141971;21309051;21325601;21449704;21465531;21569756;21624307;21876610;21953030;22011672;22076945;22300576;22341353;22367597;22371903;22447522;22552174;22766792;22768267;22771314;22827403;22901189;23165195;23171281;23223242;23230824;23238662;23255027;23300020;23357645;23391827;23437051;23454129;23522429;23566403;23623642;23750222;23776697;23836469;23867815;23898911;23967285;23987125;23994331;24030940;24061501;24096654;24171731;24209691;24228251;24440699;24454983;24632292;24706838;2595451;2834384;2890635;3183061;3442653;3800865;3839415;4816450;5055786;5056669;6155694;7115671;7516407;7561109;7636186;7655463;7851899;8188252;8512321;8783012;8995276;9252455;9305847;9605178;9815279;9823935;9892621 6288 E9PQD6;P0DJI8 ABBA01061059;AC107948;AMYH02024388;AMYH02024389;BC007022;BC105796;BG533276;BG565078;BG567902;BQ691948;CD102084;CH471064;CR542241;CS081991;HC025774;HI519556;JA514413;M10906;M23698;NG_021330;NM_000331;NM_001178006;NM_199161;X51439;X51443;X56652 AAA60297;AAA64799;AAH07022;AAI05797;ABM83270;ABM83365;ABM86475;ABW03318;CAA35804;CAA35808;CAA39974;CAG47037;CAI95959;CBH19818;CBX54359;CCD62024;EAW68408;EAW68409;EAW68410;EAW68411;NP_000322;NP_001171477;NP_954630;P0DJI8 Hs.632144 1742563;1794740;1849412;1855330;2169469;5117793 GDB:197885;GDB:607573;PMC356915P1;RH11624;SHGC-32644;SHGC-6030 MGC111216;PIG4;SAA;SAA2;TP53I4 OTTHUMP00000232000;OTTHUMP00000232001;OTTHUMP00000236629;serum amyloid A protein;serum amyloid A-1 protein;tumor protein p53 inducible protein 4 APPROVED protein-coding ENSG00000173432 HGNC:10513 00097 104750 REVIEWED 1318984 SAMD7 sterile alpha motif domain containing 7 ASSOCIATED WITH Melanoma (inferred) 3 3 3 q26.2 168028781 168056256 + 169629360 169656963 + 169911572 169939175 + 8554872 12477932;15489334;23565263 344658 F8WDF1;Q7Z3H4 ABBA01058701;AC008040;AMYH02008103;AMYH02008104;BC117339;BC143909;BX537903;BX648534;BX648989;BX648991;CH471052;NM_182610;XM_005247422;XM_005247423 AAI17340;ADR83006;CAD97889;EAW78534;NP_872416;Q7Z3H4;XP_005247479;XP_005247480 Hs.439922 2219664 SAMD7__5543 DKFZp686E1583 OTTHUMP00000213354;OTTHUMP00000213355;SAM domain-containing protein 7;sterile alpha motif domain-containing protein 7 protein-coding ENSG00000187033 HGNC:25394 18013 PROVISIONAL 1321222 SAMD4A sterile alpha motif domain containing 4A Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008] 14 14 14 q22.2 35084168 35309486 + 55033815 55260033 + 54567612 54793315 + 1580863;6480464;8554872 10470851;12477932;15324660;16221671;16344560;19913121;20379614;20628086;22201125;23251661;24023788;24255178 23034 G3V2R1;Q8WW19;Q9UPU9 AB028976;ABBA01018196;ABBA01018197;ABBA01018198;AF429970;AK024652;AK025923;AK074716;AL117523;AL133444;AL138994;AL359792;AMYH02029219;AMYH02029220;AMYH02029221;AW129053;BC011489;BC021060;BC021726;BC057838;BC121173;BC121174;BI825501;BX648198;CH471061;DA393986;KF455896;NM_001161576;NM_001161577;NM_015589 AAH21726;AAH57838;AAI21174;AAI21175;AAP97302;BAA83005;CAB55976;EAW80644;EAW80645;EAW80646;NP_001155048;NP_001155049;NP_056404;Q9UPU9 Hs.733324;Hs.98259 1338656;1339961;1646808;1657895;1662874;1675173;1684684;1690736;1718077;2131712;2161607;2163714;2174759;5022578;7187110 A002Q45;A004C05;D14S1331;D14S281;D14S991;D1S1423;G35853;RH122656;RH44632;RH48077;RH81035;RH99309;SGC33961;WI-11810 DKFZp434H0350;DKFZp686A1532;KIAA1053;SAMD4;SMG;SMGA;Smaug1;hSmaug1;smaug 1 OTTHUMP00000244858;OTTHUMP00000244859;OTTHUMP00000244860;SAM domain-containing protein 4A;Smaug;protein Smaug homolog 1;smaug homolog;sterile alpha motif domain containing 4;sterile alpha motif domain-containing protein 4A APPROVED protein-coding ENSG00000020577 HGNC:23023 10209 610747 VALIDATED 1318099 SAMHD1 SAM domain and HD domain 1 This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010] 20 20 20 pter-q12 32227775 32287786 - 35519285 35580246 - 36890882 36951843 - 1580863;6480464;7240710;8554872;8699517 11064105;11230166;11256614;11780052;12107410;12477932;14702039;16344560;17081983;18546154;19525956;20156774;20237496;20301334;20301648;20358604;20842748;21102625;21139048;21145461;21204240;21402907;21613998;21633013;21701517;21720361;21720370;21740548;21832049;21890473;21903422;21906983;21963094;21987572;22056990;22069334;22174685;22327569;22362772;22421880;22461318;22530776;22589553;22691373;22776683;22863883;22908011;22926205;22972397;22973040;22978176;22990118;22999946;23000965;23043100;23043103;23076149;23092122;23092512;23158101;23231760;23269793;23364794;23371319;23426363;23426366;23463506;23497255;23497283;23526823;23601106;23602554;23677995;23744077;23825473;23825958;23858451;23872947;23874202;23874389;23880768;23884314;23940030;23966382;23986575;24026671;24035396;24067963;24088354;24139400;24141705;24173216;24217394;24219908;24250222;24317272;24335234;24336198;24352659;24457600;24501781;24554663;24574390;24623419;24654937;24712655;24753578;25010268;25027693;25036637;25038827 25939 A6NDZ3;Q59H15;Q9Y3Z3 AB013847;AB208944;ABBA01006597;ABBA01006598;ABBA01006599;ABBA01006600;ABBA01006601;ABBA01006602;AF228421;AK027811;AK304187;AK304795;AK311150;AK315169;AL050267;AL079335;AL365505;AMYH02037040;AMYH02037041;AMYH02037042;BC036450;CA392465;CH471077;DA351335;NG_017059;NM_015474;XM_005260384 AAF32407;AAH36450;ADZ15537;BAB18916;BAB55386;BAD92181;BAG65067;BAG65545;CAB43368;EAW76090;EAW76091;NP_056289;Q9Y3Z3;XP_005260441 Hs.580681 1652559;1666705;1768654;1857030;2109797;2118876;5021266 1452;A005D07;RH45857;RH48138;RH66067;SAMHD1_9434;WI-11878 AGS5;CHBL2;DCIP;HDDC1;MOP-5;SBBI88 OTTHUMP00000030889;SAM domain and HD domain-containing protein 1;dNTPase;dendritic cell-derived IFNG-induced protein;deoxynucleoside triphosphate triphosphohydrolase SAMHD1;monocyte protein 5 APPROVED protein-coding ENSG00000101347 HGNC:15925 08418 606754;612952;614415 REVIEWED 1604035 SAMM50 SAMM50 sorting and assembly machinery component This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011] 22 22 22 q13.31 28262860 28304013 + 44351261 44392412 + 43955381 43996532 + 6480464;8554872 10591208;10810093;12477932;14702039;15461802;15489334;15644312;16189514;16344560;17510655;17623298;17624330;18029348;18854154;18940312;19056867;19913121;20139978;20360068;20379614;20628086;20877624;21139048;21906983;21963094;22001757;22114354;22252321;22505724;22719876;22939629;23402259;23464991;23535911;24457600;8125298 25813 Q9Y512 ABBA01014588;ABBA01014589;ABBA01014590;AF151809;AK001087;AK091282;AK093144;AK097015;AK124895;AK222657;AK297770;AK312773;AL035398;AMYH02038482;AMYH02038483;AMYH02038484;AMYH02038485;AMYH02038486;AY189688;BC007830;BC011681;BC015200;CH471138;CR456483;DB030637;KF457481;NG_029057;NM_015380 AAD34046;AAH07830;AAH11681;AAH15200;AAO85221;ABM84050;ABM87400;BAA91498;BAD96377;BAG53408;BAG60116;CAG30369;CAK54464;CAK54763;EAW73326;NP_056195;Q9Y512 Hs.505824 1678047;5022649;5022651 D11S2875;D11S2921;RH76330 CGI-51;FLJ35825;FLJ42905;FLJ99036;OMP85;SAM50;TOB55;TRG-3;YNL026W OTTHUMP00000197826;sorting and assembly machinery 50kDa;sorting and assembly machinery component 50 homolog;transformation-related gene 3 protein;transformation-related protein 3 APPROVED protein-coding ENSG00000100347 HGNC:24276 10826 612058 REVIEWED 6481147 SAMSN1-AS1 SAMSN1 antisense RNA 1 21 21 15954523 15970624 + 14582202 14598303 + 100874190 ABBA01057084;AF165138;AMYH02037519;AMYH02037520;BF184654;HG511564;KF457004;NR_046512 Hs.563053 AF165138.6 APPROVED ncrna ENSG00000223662 HGNC:39599 PREDICTED 1348552 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008] 21 21 21 q11 1027395 1088492 - 15857549 15955723 - 14485228 14583402 - 1580863;6480464 10830953;11536050;11594764;12477932;12909339;15381729;15489334;16344560;18523997;19807924;19953087;20379614;20478393;21296879;24278465;24816145 64092 Q9NSI8;S6FRS6 AA747998;ABBA01057083;ABBA01057084;AF165138;AF218085;AF222927;AF519621;AI815031;AK125144;AL163206;AMYH02037517;AMYH02037518;AMYH02037519;BC029112;CH471079;DA819791;HG380512;HG380513;HG380514;KF456992;KF456995;KF456996;KF456997;KF456999;KF457000;KF457001;KF457002;KF457003;KF495676;KF495780;NM_001256370;NM_001286523;NM_022136 AAG23355;AAH29112;AAK07746;AAM75349;ADZ15733;BAG54155;CAB90391;CDG37812;CDG37813;CDG37814;EAX10053;EAX10054;NP_001243299;NP_001273452;NP_071419;Q9NSI8 Hs.473341;Hs.719474 1666049;1675369;1681546;1695620;1699058;1718687;1729930;2126134 D21S16;D21S236;G48500;RH103104;RH123034;RH45314;SHGC-7347;STS-H77697 HACS1;NASH1;SASH2;SH3D6B;SLy2 OTTHUMP00000083033;OTTHUMP00000083034;SAM and SH3 domain containing 2;SAM domain, SH3 domain and nuclear localisation signals, 1;SAM domain, SH3 domain and nuclear localization signals protein 1;SAM domain-containing protein SAMSN-1;SH3-SAM adaptor protein;Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2;hematopoietic adapter-containing SH3 and sterile α-motif (SAM) domains 1;hematopoietic adapter-containing SH3 and sterile alpha-motif (SAM) domains 1;hematopoietic adaptor containing SH3 and SAM domains 1;nuclear localization signals, SAM and SH3 domain containing 1 APPROVED protein-coding ENSG00000155307 HGNC:10528 06413 607978 VALIDATED 1352885 SAMD9 sterile alpha motif domain containing 9 This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010] 7 7 7 q21.2 87433326 87451836 - 92728826 92747336 - 93099513 93118023 - 6480464;7240710;8554872;8699517 12477932;12690205;12853948;14702039;15489334;16960814;17407603;17507861;18029348;18094730;19830690;21139048;21160498;21248034;21906983;24721411;24816145;8125298;9847074 54809 C9JKF1;Q5K651 AA628487;AB095925;ABBA01045794;AC000119;AF445355;AF453311;AK000080;AK122951;AK125101;AK125131;AK225201;AMYH02016278;BC065769;BC132773;BC132775;BC150249;BG615970;BX647072;CH236949;CH471091;NG_023419;NM_001193307;NM_017654 AAH65769;AAI32774;AAI32776;AAI50250;AAQ04637;AAQ04689;AAQ96842;BAA90932;BAC23101;BAG54143;BAG54150;EAL24145;EAW76826;NP_001180236;NP_060124;Q5K651 Hs.65641 1663153;1684118 RH99073;SHGC-63607 C7orf5;DRIF1;FLJ20073;KIAA2004;NFTC;OEF1;OEF2 OTTHUMP00000208700;OTTHUMP00000208701;SAM domain-containing protein 9;expressed in aggressive fibromatosis;sterile alpha motif domain-containing protein 9 APPROVED protein-coding ENSG00000205413 HGNC:1348 11531 610455;610456 REVIEWED 8548157 SAMM50P1 SAMM50 sorting and assembly machinery component pseudogene 1 9 9 9 17375522 17377135 - 17447000 17448613 - 17447002 17448615 - 100271893 ABBA01065237;AL590377;AMYH02019236;NG_011613 pseudo HGNC:49778 INFERRED 1606502 SAP130 Sin3A-associated protein, 130kDa SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008] 2 2 2 q14.3 122009747 122095715 - 128698791 128785667 - 127941217 128028093 - 6480464;8554872 11076863;11230166;11256614;11406595;11438666;11564863;12477932;12660246;12724404;14702039;15231748;15489334;15489336;15561718;15815621;16381901;16387653;16449650;17375202;17403666;17620012;18173839;18212063;19088080;19471022;19505873;20379614;22939629;23044487;23667531;23752268;24654937;25027693;9885572 79595 C9J683;C9JTJ5;H7BXF5;Q9H0E3 ABBA01040185;ABBA01040186;ABBA01040187;AC012306;AC118060;AK022823;AK055979;AK092234;AK315185;AL136833;AMYH02004743;AY220791;BC017453;BC117255;BC143898;CH471103;DB509348;NM_001145928;NM_024545;XM_005263767;XM_005263768;XM_005263769;XM_005263770;XM_006712748;XM_006712749 AAH17453;AAI17256;AAI43899;AAO63591;AAX88975;AAY14878;BAB14261;BAB71063;BAG52501;CAB66767;CAL37428;CAL38106;EAW95350;EAW95351;EAW95352;EAW95353;EAW95354;EAW95355;NP_001139400;NP_078821;Q9H0E3;XP_005263824;XP_005263825;XP_005263826;XP_005263827;XP_006712811;XP_006712812 Hs.32995 1648364;1667930;1671718;1678175;2120990;2172206;2183307 A006S47;G33178;RH41944;RH44344;RH47241;SHGC-33543;WI-15148 FLJ12761 130 kDa Sin3-associated polypeptide;OTTHUMP00000162312;OTTHUMP00000162313;Sin3-associated polypeptide p130;histone deacetylase complex subunit SAP130;mSin3A-associated protein 130 APPROVED protein-coding ENSG00000136715 HGNC:29813 18015 609697 VALIDATED 1321265 SAP18 Sin3A-associated protein, 18kDa Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2008] 13 13 13 q12.11 2776645 2785216 + 21714653 21723224 + 21140514 21149085 + 1580863;6480464;6484113;6907045 10357820;11872158;11960000;12477932;12665594;14611647;15057823;15489334;15635413;16051665;16159877;16169070;16314458;16344560;16537548;17002296;17353931;17361185;17620012;18029348;19454010;19471022;19503603;19615732;20639865;20966198;21139048;21319273;21693764;21890473;21906983;21963094;22365833;22388736;22505724;22939629;22952844;23000965;23084401;23383273;23455922;23799881;24250222;24457600;24816145;9150135;9651585 10284 H7BZW6;O00422;U3KPY7;U3KQ12;X6RAL5 ABBA01068601;AF153608;AK311748;AL158032;AMYH02027657;AY550970;BC030836;BU618473;CH471075;CR457035;DB171768;NM_005870;U78303;U96915 AAC51322;AAD41090;AAF21220;AAH30836;AAT52216;ABZ92289;BAG34691;CAG33316;EAX08291;NP_005861;O00422 Hs.524899 1725821;1740791;1855561;2114164;2147345;2178203 D11S4361;D13S1163;G61998;HUM00D0E10;STS-H65596;WI-13846 2HOR0202;MGC27131;SAP18P 18 kDa Sin3-associated polypeptide;OTTHUMP00000018107;OTTHUMP00000211540;cell growth inhibiting protein 38;cell growth-inhibiting gene 38 protein;cell growth-inhibiting protein 38;histone deacetlyase complex subunit SAP18;histone deacetylase complex subunit SAP18;sin3-associated polypeptide p18;sin3-associated polypeptide, 18 kDa;sin3-associated polypeptide, p18 APPROVED protein-coding ENSG00000150459 HGNC:10530 04256 602949 REVIEWED 1602722 SAP30BP SAP30 binding protein INVOLVED IN positive regulation of cell death; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 17 17 17 q25.1 70253482 70294229 + 73663399 73704139 + 75667319 75708059 + 6480464;8554872 10931946;12477932;14702039;15489334;15496587;16169070;16189514;17332742;17643375;17893145;18029348;18255255;18854154;19471022;20532202;20811636;21139048;21221920;21693764;21822266;21890473;21900206;21906983;21963094;22113938;22365833;22412018;22939629;23000965;23455922;24816145;9651585 29115 F5H478;J3KRR6;J3KRU5;J3KS14;J3QKW0;J3QLH3;J3QLM2;J3QQJ0;J3QS04;Q9UHR5;X6R3T8 ABBA01028773;ABBA01028774;ABBA01028775;AC087749;AF087869;AF119664;AF450482;AK002202;AK023157;AK095265;AK098247;AK298060;AK310177;AL049465;AMYH02034000;AY082382;BC007592;BC011724;BC013409;BC030233;BC063793;BM807177;BX647066;CH471099;NM_001301839;NM_001301855;NM_013260;NR_126036;NR_126037;XM_005257256;XM_006721849;XR_243648 AAF17221;AAH07592;AAH13409;AAH30233;AAH63793;AAL47177;AAL92491;AAM10497;ABZ92322;BAC04514;BAG51029;BAH12715;CAH56422;EAW89298;EAW89299;EAW89300;EAW89301;EAW89302;EAW89303;EAW89304;NP_001288768;NP_001288784;NP_037392;Q9UHR5;XP_005257313;XP_006721912 Hs.655088 1736925;1749283;1769353;1849473;2116874;2183903 Cda12b04;D17S1570;RH17466;RH18255;RH46479;SHGC-110960 DKFZp586L2022;HCNGP;HTRG;HTRP HSV-1 binding;SAP30-binding protein;transcriptional regulator protein HCNGP protein-coding ENSG00000161526 HGNC:30785 17094 610218 VALIDATED 1344782 SAMD12 sterile alpha motif domain containing 12 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; benzo[a]pyrene diol epoxide I 8 8 8 q24.12 115390217 115822474 - 119201694 119634184 - 118189455 118621995 - 6480464 10737800;12477932;16344560;17568003;20379614;23412934;23898208;8889548 401474 B8ZZB7;E9PLP5;F8VYB8;H0Y632;H0YDQ2;H0YEJ0;Q8N8I0 ABBA01037804;ABBA01037805;ABBA01037806;AC023590;AK096777;AK311704;AMYH02018667;AMYH02018668;AMYH02018669;AMYH02018670;AP003468;AP003476;AP003493;AP003494;AP003496;BC121818;BC124554;BF326714;CB241290;CH471060;DA335826;DA459013;DB228621;DB232393;EF212289;KC877336;NM_001101676;NM_207506;NR_109794 AAI21819;AAI24555;BAC04861;EAW91974;NP_001095146;NP_997389;Q8N8I0 Hs.359393;Hs.701196 1340176;1341173;1696466;1696786;1699824;1715311;1731891;1762145;1798446;1798548;1798618;1800774;1801102;1801468;1801554;1801850;1802276;1802334;1802394;1802518;1802882;1802988;1803094;1804168;1804264;1806104;1806226;1806560;1806852;1808142;1808294;1809000;1809936;1810816;1810966;1811422;1811566;1811668;1811988;1812212;1812274;1812276;1812844;1813366;1813702;1813928;1814592;1814818;1814968;1815126;1815376;1815378;1815512;1816090;1816728;1816884;1816886;1817044;1817526;1817782;1818542;1820178;1820514;1820580;1820640;1820886;1820948;1821434;1822206;1822560;1822944;1823294;1823906;1824226;1824922;1826736;1826738;1827358;1827438;1827700;1827772;1827848;1827940;1828032;1829100;1830160;1830722;1830820;1831142;1831308;1832242;1832406;1832650;1832890;1833170;1833346;1833502;1834852;1835238;1835400;1835776;1837688;1837980;1838028;1839284;1839336;1839396;1839824;1839884;1840126;1840128;1840686;1841788;1842012;1842616;1842890;1843774;1843776;1844276;1845246;1854562;1858576;1883848;1883850;1883852;1883854;1883856;1883858;1883860;1883862;1883864;1883866;1883868;1883870;1883872;1883874;1883876;1883878;1883880;1883882;1883884;1883886;1883888;1883890;1883892;1883894;1883896;1883898;1883900;1883902;1883904;1883906;1883908;1883910;1883912;1883914;1883916;1883918;1883920;1883922;1883924;1883926;1883928;1883930;1883932;1883934;1883936;1883938;1883940;1883942;1883944;1883946;1883948;1883950;1883952;1883954;1883956;1883958;1883960;1883962;1883964;1883966;1883968;1883970;1883972;1883974;1883976;1883978;1883980;1883982;1883984;1883986;1883988;1883990;1883992;1883994;1883996;1883998;1884000;1884002;1884004;1884006;1884008;1884010;1884012;1884014;1884016;1884018;1884020;1884022;1884024;1884026;1884028;1884030;1884032;1884034;1884036;1884038;1884040;1884042;1884044;1884046;1884048;1884050;1884052;1884054;1884056;1884058;1884060;1884062;1884064;1884066;1884068;1884070;1884072;1884074;1884076;1884078;1884080;1884082;1884084;1884086;1884088;1884090;1884092;1884094;1884096;1884098;1884100;1884102;1884104;1884106;1884108;1884110;1884112;1884114;1884116;1884118;1884120;1884122;1884124;1884126;1884128;1884130;1884132;1884134;1884136;1884138;1884140;1884142;1884144;1884146;1884148;1884150;1884152;1884154;1884156;1884158;1884160;1884162;1884164;1884166;1884168;1884170;1884172;1884174;1884176;1884178;1884180;1884182;1884184;1884186;1884188;1884190;1884192;1884194;1884196;1884198;1884200;1884202;1884204;1884206;1884208;1884210;1884212;1884214;1884216;1884218;1884220;1884222;1884224;1884226;1884228;1884230;1884232;1884234;1884236;1884238;1884240;1884242;1884244;1884246;1884248;1884250;1884252;1884254;1884256;1884258;1884260;1884262;1884264;1884266;1884268;1884270;1884272;1884274;1884276;1884278;1884280;1884282;1884284;1884286;1884288;1884290;1884292;1884294;1884296;1884298;1884300;1884302;1884304;1884306;1884308;1884310;1884312;1884314;1884316;1884318;1884320;1884322;1884324;1884326;1884328;1884330;1884332;1884334;1884336;1884338;1884340;1884342;1884344;1884346;1884348;1884350;1884352;1884354;1884356;1884358;1884360;1884362;1884364;1884366;1884368;1884370;1884372;1884374;1884376;1884378;1884380;1884382;1884384;1884386;1884388;1884390;1884392;1884394;1884396;1884398;1884400;1884402;1884404;1884406;1884408;1884410;1884412;1884414;1884416;1884418;1884420;1884422;1884424;1884426;1884428;1884430;1884432;1884434;1884436;1884438;1884440;1884442;1884444;1884446;1884448;1884450;1884452;1884454;1884456;1884458;1884460;1884462;1884464;1884466;1884468;1884470;1884472;1884474;1884476;1884478;1884480;1884482;1884484;1884486;1884488;1884490;1884492;1884494;1884496;1884498;1884500;1884502;1884504;1884506;1884508;1884510;1884512;1884514;1884516;1884518;1884520;1884522;1884524;1884526;1884528;1884530;1884532;1884534;1884536;1884538;1884540;1884542;1884544;1884546;1884548;1884550;1884552;1884554;1884556;1884558;1884560;1884562;1884564;1884566;1884568;1884570;1884572;1884574;1884576;1884578;1884580;1884582;1884584;1884586;1884588;1884590;1884592;1884594;1884596;1884598;1884600;1884602;1884604;1884606;1884608;1884610;1884612;1884614;1884616;1884618;1884620;1884622;1884624;1884626;1884628;1884630;1884632;1884634;1884636;1884638;1884640;1884642;1884644;1884646;1884648;1884650;1884652;1884654;1884656;1884658;1884660;1884662;1884664;1884666;1884668;1884670;1884672;1884674;1884676;2002300;2002302;2002304;2002306;2002308;2002310;2002312;2002314;2002316;2002318;2002320;2002322;2002324;2002326;2002328;2002330;2002332;2002334;2002336;2002338;2002340;2141549;2155007;2182415;2211770;2211772;2211774;2211776;2211778;2211780;2211782;2211784;2211786;2211788;2211790;2211792;2211794;2211796;2211798;2211800;2211802;2211804;2211806;2211808;2211810;2211812;2211814;2211816;2211818;2211820;2211822;2211824;2211826;2211828;2211830;2211832;2211834;2211836;2211838;2211840;2211842;2211844;2211846;2211848;2211850;2211852;2211854;2211856;2211858;2211860;2211862;2211864;2211866;2211868;2211870;2211872;2211874;2211876;2211878;2211880;2211882;2211884;2211886;2211888;2211890;2211892;2211894;2211896;2211898;2211900;2211902;2211904;2211906;2211908;2211910;2211912;2211914;2211916;2211918;2211920;2211922;2211924;2211926;2211928;2211930;2211932;2211934;7185708 D8S1016;D8S1447;D8S1970;D8S43;D8S522;ECD00060;ECD00113;ECD00148;ECD01249;ECD01420;ECD01609;ECD01655;ECD01806;ECD02022;ECD02051;ECD02082;ECD02145;ECD02330;ECD02385;ECD02438;ECD03004;ECD03056;ECD04006;ECD04068;ECD04237;ECD04391;ECD05052;ECD05128;ECD05483;ECD05960;ECD06406;ECD06481;ECD06709;ECD06786;ECD06838;ECD06999;ECD07113;ECD07144;ECD07145;ECD07435;ECD07704;ECD07874;ECD07991;ECD08326;ECD08440;ECD08515;ECD08597;ECD08724;ECD08725;ECD08792;ECD09085;ECD09408;ECD09488;ECD09489;ECD09571;ECD09813;ECD09945;ECD10333;ECD11163;ECD11332;ECD11365;ECD11395;ECD11519;ECD11550;ECD11801;ECD12189;ECD12368;ECD12560;ECD12736;ECD13047;ECD13210;ECD13560;ECD14482;ECD14483;ECD14794;ECD14835;ECD14971;ECD15008;ECD15047;ECD15093;ECD15139;ECD15677;ECD16213;ECD16497;ECD16546;ECD16707;ECD16790;ECD17259;ECD17342;ECD17466;ECD17586;ECD17727;ECD17816;ECD17894;ECD18575;ECD18774;ECD18855;ECD19049;ECD20011;ECD20161;ECD20185;ECD20822;ECD20849;ECD20880;ECD21095;ECD21125;ECD21247;ECD21248;ECD21534;ECD22093;ECD22209;ECD22515;ECD22653;ECD23098;ECD23099;ECD23352;ECD23840;ECD24489;REN12617;REN12618;REN12619;REN12620;REN12621;REN12622;REN12623;REN12624;REN12625;REN12626;REN12627;REN12628;REN12629;REN12630;REN12631;REN12632;REN12633;REN12634;REN12635;REN12636;REN12637;REN12638;REN12639;REN12640;REN12641;REN12642;REN12643;REN12644;REN12645;REN12646;REN12647;REN12648;REN12649;REN12650;REN12651;REN12652;REN12653;REN12654;REN12655;REN12656;REN12657;REN12658;REN12659;REN12660;REN12661;REN12662;REN12663;REN12664;REN12665;REN12666;REN12667;REN12668;REN12669;REN12670;REN12671;REN12672;REN12673;REN12674;REN12675;REN12676;REN12677;REN12678;REN12679;REN12680;REN12681;REN12682;REN12683;REN12684;REN12685;REN12686;REN12687;REN12688;REN12689;REN12690;REN12691;REN12692;REN12693;REN12694;REN12695;REN12696;REN12697;REN12698;REN12699;REN12700;REN12701;REN12702;REN12703;REN12704;REN12705;REN12706;REN12707;REN12708;REN12709;REN12710;REN12711;REN12712;REN12713;REN12714;REN12715;REN12716;REN12717;REN12718;REN12719;REN12720;REN12721;REN12722;REN12723;REN12724;REN12725;REN12726;REN12727;REN12728;REN12729;REN12730;REN12731;REN12732;REN12733;REN12734;REN12735;REN12736;REN12737;REN12738;REN12739;REN12740;REN12741;REN12742;REN12743;REN12744;REN12745;REN12746;REN12747;REN12748;REN12749;REN12750;REN12751;REN12752;REN12753;REN12754;REN12755;REN12756;REN12757;REN12758;REN12759;REN12760;REN12761;REN12762;REN12763;REN12764;REN12765;REN12766;REN12767;REN12768;REN12769;REN12770;REN12771;REN12772;REN12773;REN12774;REN12775;REN12776;REN12777;REN12778;REN12779;REN12780;REN12781;REN12782;REN12783;REN12784;REN12785;REN12786;REN12787;REN12788;REN12789;REN12790;REN12791;REN12792;REN12793;REN12794;REN12795;REN12796;REN12797;REN12798;REN12799;REN12800;REN12801;REN12802;REN12803;REN12804;REN12805;REN12806;REN12807;REN12808;REN12809;REN12810;REN12811;REN12812;REN12813;REN12814;REN12815;REN12816;REN12817;REN12818;REN12819;REN12820;REN12821;REN12822;REN12823;REN12824;REN12825;REN12826;REN12827;REN12828;REN12829;REN12830;REN12831;REN12832;REN12833;REN12834;REN12835;REN12836;REN12837;REN12838;REN12839;REN12840;REN12841;REN12842;REN12843;REN12844;REN12845;REN12846;REN12847;REN12848;REN12849;REN12850;REN12851;REN12852;REN12853;REN12854;REN12855;REN12856;REN12857;REN12858;REN12859;REN12860;REN12861;REN12862;REN12863;REN12864;REN12865;REN12866;REN12867;REN12868;REN12869;REN12870;REN12871;REN12872;REN12873;REN12874;REN12875;REN12876;REN12877;REN12878;REN12879;REN12880;REN12881;REN12882;REN12883;REN12884;REN12885;REN12886;REN12887;REN12888;REN12889;REN12890;REN12891;REN12892;REN12893;REN12894;REN12895;REN12896;REN12897;REN12898;REN12899;REN12900;REN12901;REN12902;REN12903;REN12904;REN12905;REN12906;REN12907;REN12908;REN12909;REN12910;REN12911;REN12912;REN12913;REN12914;REN12915;REN12916;REN12917;REN12918;REN12919;REN12920;REN12921;REN12922;REN12923;REN12924;REN12925;REN12926;REN12927;REN12928;REN12929;REN12930;REN12931;REN12932;REN12933;REN12934;REN12935;REN12936;REN12937;REN12938;REN12939;REN12940;REN12941;REN12942;REN12943;REN12944;REN12945;REN12946;REN12947;REN12948;REN12949;REN12950;REN12951;REN12952;REN12953;REN12954;REN12955;REN12956;REN12957;REN12958;REN12959;REN12960;REN12961;REN12962;REN12963;REN12964;REN12965;REN12966;REN12967;REN12968;REN12969;REN12970;REN12971;REN12972;REN12973;REN12974;REN12975;REN12976;REN12977;REN12978;REN12979;REN12980;REN12981;REN12982;REN12983;REN12984;REN12985;REN12986;REN12987;REN12988;REN12989;REN12990;REN12991;REN12992;REN12993;REN12994;REN12995;REN12996;REN12997;REN12998;REN12999;REN13000;REN13001;REN13002;REN13003;REN13004;REN13005;REN13006;REN13007;REN13008;REN13009;REN13010;REN13011;REN13012;REN13013;REN13014;REN13015;REN13016;REN13017;REN13018;REN13019;REN13020;REN13021;REN13022;REN13023;REN13024;REN13025;REN13026;REN13027;REN13028;REN13029;REN13030;REN13031;REN72062;REN72063;REN72064;REN72065;REN72066;REN72067;REN72068;REN72069;REN72070;REN72071;REN72072;REN72073;REN72074;REN72075;REN72076;REN72077;REN72078;REN72079;REN72080;REN72081;REN72082;RH103519;RH120487;RH36153;SHGC-146042;SHGC-79788;SHGC-79819;WIAF-2121;stSG631066;stSG631068;stSG631069;stSG631070;stSG631071;stSG631072;stSG631073;stSG631074;stSG631075;stSG631076;stSG631077;stSG631078;stSG631079;stSG631080;stSG631081;stSG631082;stSG631083;stSG631084;stSG631085;stSG631086;stSG631087;stSG631088;stSG631089;stSG631090;stSG631091;stSG631092;stSG631093;stSG631095;stSG631096;stSG631097;stSG631098;stSG631099;stSG631100;stSG631101;stSG631102;stSG631105;stSG631106;stSG631107;stSG631108;stSG631109;stSG631110;stSG631111;stSG631112;stSG631113;stSG631114;stSG631115;stSG631116;stSG631117;stSG631119;stSG631122;stSG631123;stSG631124;stSG631125;stSG631126;stSG631127;stSG631128;stSG631129;stSG631130;stSG631131;stSG631132;stSG631133;stSG631135;stSG631136;stSG631137;stSG631138;stSG631139;stSG631140;stSG631141;stSG631142;stSG631143;stSG631144;stSG631145;stSG631147;stSG631148;stSG631149;stSG631150;stSG631152;stSG631153;stSG631156;stSG631157;stSG631158;stSG631159;stSG631160 FLJ39458;MGC148139;MGC148140 OTTHUMP00000066180;OTTHUMP00000203660;OTTHUMP00000203661;OTTHUMP00000203662;OTTHUMP00000228445;OTTHUMP00000228446;OTTHUMP00000228447;SAM domain-containing protein 12;sterile alpha motif domain-containing protein 12 protein-coding ENSG00000177570 HGNC:31750 15293 VALIDATED 7245928 SAP30L-AS1 SAP30L antisense RNA 1 (head to head) ASSOCIATED WITH Melanoma (inferred) 5 5 q33.2 153769329 153825382 - 154389769 154445822 - 8554872 12477932;14702039;16344560;23942779 386627 ABBA01026238;ABBA01026239;ABBA01026240;AC008625;AK095428;AMYH02012502;BC042059;DB100745;HG498638;NR_037897 Hs.652021 1682105;1688783;5016799;5022578;5037552 D1S1423;D8S2279;RH79856;RH91542;RH94350 GALNT10-AS1 ncrna HGNC:26760 VALIDATED 1354225 SAP30 Sin3A-associated protein, 30kDa Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008] 4 4 4 q34.1 171617185 171623780 + 174292093 174298683 + 173370942 173377532 + 1580863;6480464;6484113 10441327;10444591;11000236;11013263;11101889;11102443;11118440;11283269;11390640;11784859;12124384;12453419;12477932;12670868;12724404;12788099;15005689;15235594;15302935;15451426;15489334;15496587;16387653;16449650;16479010;16820529;17081983;17672918;17897615;18193082;19015240;20211142;20388487;20478393;21148318;21258344;21676866;21963094;23752268;24250222;7889570;9150135;9651585;9702189;9790534;9804427;9874765;9885572 8819 O75446 ABBA01070373;ABBA01070374;AC097534;AF055993;AMYH02010516;AW236579;BC016757;CH471056;NM_003864 AAC33316;AAH16757;ABM83754;EAX04755;EAX04756;NP_003855;O75446 Hs.591715 1663824;1773053;2109799;2127013 A008X24;SAP30_8860;SHGC-59778;SHGC-59809 30 kDa Sin3-associated polypeptide;OTTHUMP00000219006;Sin3 corepressor complex subunit SAP30;Sin3-associated polypeptide, 30kDa;histone deacetylase complex subunit SAP30;sin3-associated polypeptide p30;sin3-associated polypeptide, 30 kDa APPROVED protein-coding ENSG00000164105 HGNC:10532 04540 603378 REVIEWED 1345696 SAPCD2 suppressor APC domain containing 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; all-trans-retinoic acid 9 9 9 q34.3 110469998 110478498 - 139956579 139965028 - 137062124 137070576 - 737633;6480464;8554872 12477932 17525738;18029348;20360068;21998710;23192843;23228105;23576022;23704824;24608043 89958 Q86UD0;Q96GJ3 ABBA01022739;ABBA01022740;AL807752;AMYH02021921;BC009435;BC018901;BC024299;BC042162;BC048267;BX332104;CH471090;DQ150361;NM_178448;XM_006717315 AAH09435;AAH48267;AAZ39408;EAW88338;EAW88339;NP_848543;Q86UD0;XP_006717378 Hs.19322 1655458;2137954 STS-R54078;WI-20997 C9orf140;TS/MDEP;p42.3 2010317E24Rik;OTTHUMP00000022651;suppressor APC domain-containing protein 2;tumor specificity and mitosis phase-dependent expression protein APPROVED protein-coding ENSG00000186193 HGNC:28055 12943 612057 VALIDATED 9479387 SAPCD2P1 suppressor APC domain containing 2 pseudogene 1 7 7 7 q11.21 57361173 57362356 + 63642088 63643271 + 64181710 64182893 + 20339536 442320 ABBA01027974;AC091685;AMYH02015848;NG_022563 pseudo HGNC:51277 INFERRED 1352760 SAPCD1 suppressor APC domain containing 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH trichostatin A; valproic acid; cadmium dichloride (ortholog) 6 6 6 p21.33 33329018 33330872 + 31730773 31732627 + 31762996 31764850 + 6480464;8554872 12477932;14574404;14656967;19851445;22087225;2477242;8812450 401251 F6XBR9;Q5SSQ6 ABBA01038085;AF134726;AI765046;AL662834;AL662899;AMYH02013453;BA000025;BC137541;BC137542;BU162048;BX248133;CR759787;CR759915;CR925765;NM_001039651 AAD21821;AAI37542;AAI37543;BAB63305;NP_001034740;Q5SSQ6 Hs.371225 1693774;2110581 MSH5_7832;SHGC-58848 C6orf26;DKFZp434C1615;NG23 OTTHUMP00000029178;OTTHUMP00000174487;protein G7d;suppressor APC domain-containing protein 1 APPROVED protein-coding ENSG00000228727;ENSG00000255152 HGNC:13938 VALIDATED 9479248 SAPCD2P2 suppressor APC domain containing 2 pseudogene 2 7 7 7 p11.2 56208785 56209949 + 57484219 57485383 + 57424515 57425679 + 442317 ABBA01028302;AC073057;AC237221;AMYH02015779;NG_022559 pseudo HGNC:51278 INFERRED 5132311 SAP25 Sin3A-associated protein, 25kDa INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH thioacetamide (ortholog) 7 7 7 q22.1 94899650 94901069 - 100169851 100171487 - 100572228 100573864 - 6480464 12107411;14702039;15489334;16449650;20467438 100316904 Q8TEE9 ABBA01013198;AC069281;AI554115;AMYH02016384;BQ635892;CH236956;NM_001168682;XM_005250096;XM_006715822 NP_001162153;Q8TEE9;XP_005250153;XP_006715885 Hs.633863 25 kDa Sin3-associated polypeptide;Sin3 corepressor complex subunit SAP25;histone deacetylase complex subunit SAP25;sin3-associated polypeptide, 25kDa;sin3A-binding protein 25 protein-coding ENSG00000205307 HGNC:41908 PROVISIONAL 9479386 SAPCD2P3 suppressor APC domain containing 2 pseudogene 3 7 7 7 q11.21 66093377 66094997 - 66021139 66022759 + 66556152 66557772 + 9847074 643353 ABBA01048984;AC006001;AMYH02015912;CH236961;NG_009402 pseudo HGNC:51279 INFERRED 9479356 SAPCD2P4 suppressor APC domain containing 2 pseudogene 4 7 7 7 q11.21 58971253 58972422 + 62574013 62575182 - 63113635 63114804 - 23251661 442318 ABBA01006348;AC069285;AMYH02015807;NG_022538 pseudo HGNC:51280 INFERRED 1352062 SAR1AP1 SAR1 homolog A (S. cerevisiae) pseudogene 1 6 6 6 p22.1 30648303 30651128 - 29042193 29045018 - 29074416 29077241 - 646260 ABBA01038029;AL035402;AL662791;AL662852;AL929561;AMYH02013406;BX248413;CR388407;CR547123;CR933783;NG_009576 2191407 MARC_21359-21360:1023909782:1 SAR1P1;SARAP1;dJ88J8.3;hsSARA-p SARAP APPROVED pseudo HGNC:13983 INFERRED 2303334 SAR1AP2 SAR1 homolog A (S. cerevisiae) pseudogene 2 10 10 10 q26.2 121735915 121736509 + 127961297 127961891 + 126272728 126273322 + 641312 ABBA01034179;AC026226;AMYH02024004;NG_009478;NG_029050 SAR1P2;SARA1P APPROVED pseudo HGNC:20770 INFERRED 1350460 SAR1A secretion associated, Ras related GTPase 1A ENCODES a protein that exhibits GTP binding (inferred); INVOLVED IN intracellular protein transport (inferred); negative regulation of cargo loading into COPII-coated vesicle (inferred); vesicle-mediated transport (inferred); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; copper(2+) sulfate; cyclosporin A 10 10 10 q22.1 65189062 65209379 - 71909960 71930285 - 70150204 70170529 - 1580863;6480464;6907045 10871277;11230166;12477932;12692552;15489334;15580264;16344560;16385451;16713569;16751776;17207965;17373700;17981133;18029348;18318767;18781797;19135528;19322201;19357197;19738201;20457124;20624903;20634891;21139048;21832049;21890473;21906983;21988832;22605651;22939629;22974979;23000965;23019651;23349634;24338480;24816145 56681 H0Y5E8;Q5SQT8;Q5SQT9;Q9NR31;X1WI22 ABBA01019619;ABBA01019620;AF086166;AF087897;AF217959;AF261717;AF274026;AF318066;AK025857;AK298591;AK312469;AL136724;AL731540;AMYH02023280;AMYH02023281;AW128933;AY008268;BC003658;BG327663;CH471083;CQ859742;CR533492;DB216796;DQ587286;DR763562;EB388518;NM_001142648;NM_020150 AAF81741;AAG16638;AAH03658;AAL27183;AAM69363;AAP97196;AAQ13891;ACE86727;ACE87413;ADQ33170;BAG35376;BAG60781;CAB66658;CAG38523;CAH25921;EAW54378;EAW54379;EAW54380;EAW54381;NP_001136120;NP_064535;Q9NR31 Hs.499960 1854636;2150852;2151622;2191407;5016258;5017479;5124527 MARC_21359-21360:1023909782:1;RH80472;SAR1A;SHGC-31373;STS-T93317;STS-W79509;WI-16722 SAR1;SARA1;Sara;masra2 COPII-associated small GTPase;GTP-binding protein SAR1a;OTTHUMP00000019743;OTTHUMP00000019744;OTTHUMP00000019745;OTTHUMP00000019746;OTTHUMP00000019748;SAR1 gene homolog A;SAR1 gene homolog A (S. cerevisiae);SAR1 homolog A;SAR1a gene homolog 1;sar1a gene homolog 1 (s. cerevisiae) APPROVED protein-coding ENSG00000079332 HGNC:10534 07608 607691 VALIDATED 1602814 SAR1AP3 SAR1 homolog A (S. cerevisiae) pseudogene 3 4 4 4 q27 118648444 118651324 + 121263135 121266015 + 120341980 120344860 + 9847074 344988 ABBA01044719;AC073475;AMYH02010000;NG_009719 2151622 WI-16722 SAR1P3 APPROVED pseudo HGNC:32317 INFERRED 2799526 SAR1AP4 SAR1 homolog A (S. cerevisiae) pseudogene 4 X X X q13.3 75387708 75388303 + 75104381 75104976 + 75884546 75885141 + 100132322 ABBA01059392;AL451105;AMYH02039791;NG_016180 5017479 SAR1A pseudo HGNC:37638 INFERRED 1353410 SAMD9L sterile alpha motif domain containing 9-like INVOLVED IN common myeloid progenitor cell proliferation (inferred); endosomal vesicle fusion (inferred); hematopoietic progenitor cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN early endosome (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 7 7 7 q21.2 87463879 87482190 - 92759368 92777689 - 93130055 93148376 - 6480464;8554872 12477932;12690205;14702039;17407603;23740937 219285 Q8IVG5 AB095926;ABBA01045794;AC000119;AF474973;AK026672;AK097204;AK304307;AK304779;AL832264;AL834232;AMYH02016278;AY195582;AY195583;AY195584;AY195585;AY195586;AY195587;AY195588;BC029108;BC038974;BC127117;BC127118;CH236949;CH471091;DQ068177;NM_152703;W19045;XM_005250191;XM_005250193;XM_006715888;XM_006715889;XM_006715890 AAH29108;AAH38974;AAI27118;AAI27119;AAP57709;AAP57710;AAP57711;AAP57712;AAP57713;AAP57714;AAQ05771;AAY98793;BAC04975;BAC23102;BAG65160;BAG65533;CAD38910;EAL24144;EAW76824;EAW76825;NP_689916;Q8IVG5;XP_005250248;XP_005250250;XP_006715951;XP_006715952;XP_006715953 Hs.489118 1653666;1695048;1695050;1700042;1735644 D7S2058E;G44754;G44755;GDB:1318442;RH103633 C7orf6;DRIF2;FLJ39885;KIAA2005;UEF1 OTTHUMP00000208674;OTTHUMP00000208675;OTTHUMP00000208676;OTTHUMP00000208677;OTTHUMP00000208678;OTTHUMP00000208679;OTTHUMP00000208680;SAM domain-containing protein 9-like;chromosome 7 open reading frame 6;sterile alpha motif domain-containing protein 9-like protein-coding ENSG00000177409 HGNC:1349 10798 611170 VALIDATED 1606218 SAP30L SAP30-like ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus; INTERACTS WITH 2-methylcholine; cobalt dichloride; copper(2+) sulfate 5 5 5 q33.2 149901175 149916278 + 153825517 153840613 + 154445957 154461053 + 6480464 10843801;12477932;14680513;14702039;15302935;16484223;16820529;18070604;19015240;20588308;21258344;23535033;23752268 79685 Q9HAJ7 ABBA01026238;AC008625;AC026688;AF085957;AF157115;AF157116;AI144341;AI199517;AI436556;AK021588;AK027248;AK093816;AL833219;AL833381;AMYH02012502;AMYH02012503;AW874393;AY341060;AY846876;BC009829;CH471062;NM_001131062;NM_001131063;NM_024632;NR_024084 AAH09829;AAQ16562;AAX54477;ADZ15848;BAB13848;EAW61637;NP_001124534;NP_001124535;NP_078908;Q9HAJ7 Hs.592566 1665801;1699886;1721065;1775380;1794566;1794568;2123460;2142240;2149978;5019815 A009X35;G32956;G59515;PMC319701P1;PMC319701P2;RH103551;STS-Z41280;WI-12608;WI-13614;WI-17163 DKFZp667L2214;FLJ11526;FLJ23595;FLJ36497;NS4ATP2 HCV non-structural protein 4A-transactivated protein 2;OTTHUMP00000160641;OTTHUMP00000224330;OTTHUMP00000224331;Sin3A associated protein p30-like;histone deacetylase complex subunit SAP30L;sin3 corepressor complex subunit SAP30L;sin3-associated protein p30-like protein-coding ENSG00000164576 HGNC:25663 08563 610398 VALIDATED 1603945 SARNP SAP domain containing ribonucleoprotein This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 12 12 12 q13.2 55798717 55863901 - 56146247 56211540 - 55752463 55817756 - 6480464 11042152;11181995;11356193;11790298;11922608;12477932;14667819;15048984;15284855;15338056;15489334;15635413;17196963;17986458;18029348;19471022;19738201;21139048;21319273;21693764;21890473;21900206;21906983;22863883;22939629;24654937;24816145;8125298 84324 F8VS12;F8VZQ9;P82979;Q567R9 ABBA01008387;ABBA01008388;ABBA01008389;ABBA01008390;AC023055;AC073487;AF161434;AF486281;AJ409089;AK222719;AK290508;AMYH02026550;AMYH02026551;AMYH02026552;BC007099;BC093051;BI520421;CH471054;NM_033082;NR_026722;NR_026723 AAF28994;AAH07099;AAH93051;AAM09686;ABZ92475;BAF83197;CAC37950;EAW96838;NP_149073;P82979 Hs.505676 1651650;1659800;1681795;1777922;2119868;5093448;5123468 A009P04;D12S1177E;G32723;RH44981;RH99137;STS-AA005408;STS-AA040347 CIP29;HCC1;HSPC316;MGC14726;THO1 OTTHUMP00000243796;OTTHUMP00000243802;OTTHUMP00000243805;SAP domain-containing ribonucleoprotein;cytokine induced protein 29 kDa;cytokine-induced protein of 29 kDa;hepatocellular carcinoma 1;nuclear protein Hcc-1;proliferation associated cytokine-inducible protein CIP29;proliferation-associated cytokine-inducible protein CIP29 APPROVED protein-coding ENSG00000205323 HGNC:24432 16716 610049 REVIEWED 735740 SARDH sarcosine dehydrogenase This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008] 9 9 9 q33-q34 107075562 107151924 - 136528682 136605077 - 133663560 133739955 - 1580863;634034;6480464;6907045;7240710;7242560;8554872 20645850;9839943 10444331;10686491;12477932;14702039;16344560;19161160;20877624;22825317;22939629;23824605;2417560;2447942;8125298 1757 A8K596;Q5SYU9;Q5SYV1;Q5SYV2;Q9UL10;Q9UL12 ABBA01021976;ABBA01021977;AF047004;AF047190;AF095735;AF095736;AF095737;AF129265;AF140745;AF162428;AJ223317;AK093794;AK223402;AK291211;AK298348;AK316494;AL365494;AL590710;AMYH02021835;AMYH02021836;BC033217;BC041574;BC136363;BC136364;BC144035;CH471090;DB184618;NG_008987;NM_001134707;NM_007101;XM_005272170;XM_006716990;XM_006716991 AAD13136;AAD13137;AAD32214;AAD33412;AAD43585;AAD53398;AAD53399;AAD53400;AAH33217;AAI36364;AAI36365;AAI44036;BAD97122;BAF83900;BAG52766;BAG60594;BAH14865;CAA11257;EAW88101;EAW88102;EAW88103;EAW88104;NP_001128179;NP_009032;Q9UL12;XP_005272227;XP_006717053;XP_006717054 Hs.198003 1663306;1738317;1738331;1740537;1778573;5037552 D8S2279;D9S122;D9S1346;D9S1353;SHGC-32511;WI-18415 BPR-2;DMGDHL1;FLJ36475;SAR;SARD;SDH OTTHUMP00000022503;OTTHUMP00000022506;dimethylglycine dehydrogenase-like 1;sarcosine dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000123453 HGNC:10536 06831 268900;604455 REVIEWED 1315069 SAMD8 sterile alpha motif domain containing 8 ENCODES a protein that exhibits transferase activity (inferred); INVOLVED IN ceramide biosynthetic process; regulation of ceramide biosynthetic process; FOUND IN integral component of endoplasmic reticulum membrane; INTERACTS WITH aflatoxin B1; arsenous acid; benzo[a]pyrene 10 10 10 q22.2 70159648 70230138 + 76871275 76941881 + 75111635 75182123 + 1580863;6480464 12477932;14685263;14702039;15761153;16385451;19506037;21906983 142891 Q5JSC9;Q96LT4;V9HVY4 ABBA01020263;ABBA01020264;ABBA01020265;AK057811;AL392111;AMYH02023361;AMYH02023362;AMYH02023363;BC080593;CH471083;EU668332;NM_001174156;NM_144660;XM_005269541 AAH80593;AAI40220;AAI46557;ACF94485;BAB71586;EAW54565;EAW54566;EAW54567;EAW54568;NP_001167627;NP_653261;Q96LT4;XP_005269598 Hs.744986 1653271;1760197;5016478;5022578;5024761;5037552 D1S1423;D8S2279;GDB:434012;RH36905;SHGC-132478;SHGC-32818 FLJ25082;HEL-177;SMSr CPE synthase;OTTHUMP00000019872;OTTHUMP00000019873;OTTHUMP00000019874;SAM domain-containing protein 8;ceramide phosphoethanolamine synthase;epididymis luminal protein 177;sphingomyelin synthase related;sphingomyelin synthase-related protein 1;sterile alpha motif domain-containing protein 8 protein-coding ENSG00000156671 HGNC:26320 18014 611575 VALIDATED 1604621 SARAF store-operated calcium entry-associated regulatory factor INVOLVED IN regulation of store-operated calcium entry; FOUND IN integral component of endoplasmic reticulum membrane; INTERACTS WITH 17beta-estradiol; benzene; bucladesine 8 8 8 p12 28879934 28899952 - 29920609 29940649 - 30063012 30083208 - 6480464 11042152;12213963;12477932;12975309;14702039;15340161;15489334;16169070;16303743;17110338;18502753;18976975;20379614;21139048;21890473;21906983;21963094;21987572;22464749;23000965;23049731;23816623;23867461;8125298 51669 E5RFJ9;E5RHW0;E5RJG8;E5RJV6;E5RK07;H0YAN9;H0YAZ1;H0YBH7;Q96BY9 AB028926;ABBA01023672;AC044849;AF078855;AF100748;AF490252;AK025927;AK075340;AK094386;AK130057;AK222632;AK295360;AK314659;AK315956;AMYH02017711;AY359104;BC015012;BM280420;CH471080;CQ834206;CQ834316;DC359554;JQ348891;JQ348892;NM_001284239;NM_016127;Z70223 AAD43012;AAD44487;AAH15012;AAO85460;AAQ89462;ABM83377;ABM86589;AEZ06361;AEZ06362;BAB82465;BAD96352;BAG52116;BAG52863;BAH12043;BAH14327;CAH05318;CAH05373;EAW63471;EAW63472;EAW63473;EAW63474;NP_001271168;NP_057211;Q96BY9 Hs.521487 1649827;1851024;2126513;2131241;2183600 D8S1463;D8S2122;RH66551;STS-W87932;WI-20115 FLJ22274;FOAP-7;HSPC035;MGC8721;TMEM66;XTP3 HBV X-transactivated gene 3 protein;HBV XAg-transactivated protein 3;OTTHUMP00000164581;OTTHUMP00000225012;SARAF long isoform;SARAF short isoform;SOCE-associated regulatory factor;transmembrane protein 66 APPROVED protein-coding ENSG00000133872 HGNC:28789 08651 614768 VALIDATED 1313710 SAR1B secretion associated, Ras related GTPase 1B The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 5 q31.1 130062739 130094663 - 133936839 133968533 - 134601149 134632843 - 1580863;6480464;6907045;7240710;8554872;8699517 10665502;11031247;11252894;12450215;12477932;12692552;14702039;15489334;15943909;16341674;17945526;18029348;18786134;19846172;21139048;21836065;22974979;23000965;24338480;8125298 51128 D6R9R5;D6RAA2;D6RD69;D6RDB2;Q9H029;Q9Y6B6 ABBA01068753;ABBA01068754;ABBA01068755;AC106763;AF087850;AF092130;AK056821;AK223452;AL512710;AL710660;AMYH02012248;AMYH02012249;BC002847;BC093034;BM765118;CD048852;CH471062;CQ816569;NG_017002;NM_001033503;NM_016103;XM_006714641 AAD40372;AAH02847;AAH93034;AAP97161;ACE86982;ACE87671;BAD97172;BAG51815;CAC21652;CAG32967;EAW62249;EAW62250;NP_001028675;NP_057187;Q9Y6B6;XP_006714704 Hs.432984 1653504;1657831;1679073;1679351;1735462;1780648;1856049;2138348;2166702;5015861;5015879;5020414;5020881;5022450;5022578;5037552;7184655;7185938 A006N32;D10S16;D10S275;D1S1423;D4S133;D5S1585E;D8S2279;GDB:314949;L17688;L17709;RH47180;RH91372;RH92208;STS-W67309;WI-21567;bac51510T ANDD;CMRD;GTBPB;SARA2 2310075M17Rik;GTP-binding protein B;GTP-binding protein SAR1b;GTP-binding protein Sara;OTTHUMP00000159375;OTTHUMP00000159376;OTTHUMP00000223099;OTTHUMP00000223100;OTTHUMP00000223101;OTTHUMP00000223103;OTTHUMP00000223104;OTTHUMP00000223105;SAR1 gene homolog B (S. cerevisiae);SAR1 homolog B;SAR1a gene homolog 2;sar1a gene homolog 2 (s. cerevisiae) APPROVED protein-coding ENSG00000152700 HGNC:10535 09647 246700;607690 REVIEWED 1348583 SARS seryl-tRNA synthetase This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010] 1 1 1 p13.3 108025871 108050163 + 109756515 109780804 + 109213893 109238182 + 1580863;6480464 11317363;11331419;11577083;11945516;12477932;14702039;15342556;15489334;16341674;16344560;17314511;17353931;18029348;19423847;20562859;20571754;20877624;21044950;21045311;21139048;21255763;21319273;21890473;21906983;21963094;22190034;22353712;22505724;22863883;22939629;24034276;24095058;24250222;24816145;7540217;8125298;8889548;9431993;9637248 6301 P49591;Q0VGA5;Q5T5C7 ABBA01068376;AK093718;AK222677;AK312771;AL356389;AMYH02001705;AMYH02001706;AMYH02001707;BC000716;BC009390;BC111398;BM666450;BM798814;BP363347;CH471122;D49914;DA792457;NM_006513;NR_034072;X91257;XM_006710813 AAH00716;AAH09390;AAI11399;ABM83070;ABM86265;BAA95602;BAD96397;BAG35636;CAA62635;EAW56365;EAW56366;EAW56367;EAW56368;EAW56369;EAW56370;EAW56371;NP_006504;P49591;XP_006710876 Hs.531176 1656120;1661743;1664437;1687479;1692630;2110715;2126989;2137689;2176952 AL009498;AL034074;RH28522;RH36634;RH69912;SARS_8608;SHGC-35825;SHGC-75275;STS-W72396 FLJ36399;SERRS;SERS OTTHUMP00000013432;OTTHUMP00000013500;Seryl-tRNA Ser/Sec synthetase;serine tRNA ligase 1, cytoplasmic;serine--tRNA ligase;serine--tRNA ligase, cytoplasmic;serine-tRNA ligase;seryl-tRNA synthetase, cytoplasmic;seryl-tRNA(Ser/Sec) synthetase APPROVED protein-coding ENSG00000031698 HGNC:10537 09605 607529 REVIEWED 1320776 SARM1 sterile alpha and TIR motif containing 1 INVOLVED IN regulation of dendrite morphogenesis (ortholog); regulation of neuron death (ortholog); ASSOCIATED WITH Folate Malabsorption, Hereditary (inferred); FOUND IN mitochondrion; cytoplasm (ortholog); dendrite (ortholog); INTERACTS WITH 2-methylcholine; arsenous acid; atrazine 17 17 17 q11 23560746 23589829 + 26698683 26728062 + 28371662 28401045 + 6480464;8554872 11386760;12477932;14702039;15123841;15893701;16964262;17258210;17804407;18089857;19913121;20306472;20628086;21048031;21139048;21890473;21903422;22145856;22797925;23175186;23885119;23923041;24021647;24250222;24457600;24840802;9628581 23098 J3KRZ6;J3KSG7;J3QRE0;Q05B42;Q0D2N8;Q6SZW1 AB011096;ABBA01015059;ABBA01015060;AC002094;AC015917;AJ290445;AK093615;AK302038;AK314609;AMYH02033222;AMYH02033223;AY444166;BC040429;BC122860;BG820141;CH471159;CQ859792;KF454896;KF456269;KF495704;NM_015077 AAH40429;AAI22861;AAR17520;BAA25450;BAG52744;BAG63432;CAB90355;CAH25946;EAW51083;EAW51084;NP_055892;Q6SZW1 Hs.743510 1660570;1672648;1682197;1687287;1689139;2219666 RH11530;RH12566;RH39314;SARM1__5545;SHGC-30073;SHGC-57890 FLJ36296;KIAA0524;MyD88-5;SAMD2;SARM OTTHUMP00000163322;OTTHUMP00000245268;SAM domain-containing protein 2;sterile alpha and Armadillo repeat protein;sterile alpha and HEAT/Armadillo motif protein, ortholog of Drosophila;sterile alpha and TIR motif-containing protein 1;sterile alpha motif domain-containing protein 2;tir-1 homolog protein-coding HGNC:17074 607732 VALIDATED 1603551 SASS6 spindle assembly 6 homolog (C. elegans) SAS6 is necessary for centrosome duplication and functions during procentriole formation; SAS6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle Strnad et al., (2007) [PubMed 17681132].[supplied by OMIM, Mar 2008] 1 1 1 p21.2 98805981 98855389 - 100549100 100598518 - 100083544 100132955 - 6480464;8554872 12477932;14654843;15572125;15665853;16244668;16710414;17681131;17681132;19503075;19615732;20308539;20360068;21139048;21725316;22020124;22349698;23511974;24590172 163786 Q6UVJ0 ABBA01045445;AC093019;AK025750;AK302513;AK307824;AL445928;AL834265;AMYH02001553;AMYH02001554;AY359522;BC054889;BC101026;BX641109;BX648406;CH471097;NM_194292 AAI01027;AAQ57128;BAG63789;CAD38940;EAW72974;EAW72975;NP_919268;Q6UVJ0 Hs.591447 1727287;1855404 G63050;SHGC-75217 FLJ22097;MGC119440;SAS-6;SAS6 OTTHUMP00000012455;hsSAS-6;spindle assembly abnormal protein 6 homolog APPROVED protein-coding ENSG00000156876 HGNC:25403 10907 609321 VALIDATED 1353862 SASH3 SAM and SH3 domain containing 3 The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by RefSeq, Sep 2009] X X X q26 129300396 129315681 + 128913892 128929177 + 129779916 129795201 + 6480464 11470164;12477932;12515807;15489334;15761153;18029348;21832049;24816145;9094723 54440 B4DKQ0;O75995 ABBA01047837;ABBA01047838;ABBA01047839;ABBA01047840;AK292023;AK296665;AK314869;AL023653;AL049683;AMYH02040464;BC051881;CH471107;CR975883;NG_013260;NM_018990;XM_006724763 AAH51881;BAF84712;BAG37384;BAG59262;CAB41255;EAX11826;NP_061863;O75995;XP_006724826 Hs.61469 2147169;2148527;2159165;5092602 G54536;RH47211;RH68000;SHGC-34209 753P9;CXorf9;HACS2;SH3D6C;SLY OTTHUMP00000023986;SAM and SH3 domain-containing protein 3;SH3 protein expressed in lymphocytes homolog APPROVED protein-coding ENSG00000122122 HGNC:15975 02342 300441 REVIEWED 1350407 SASH1 SAM and SH3 domain containing 1 ENCODES a protein that exhibits mitogen-activated protein kinase kinase kinase binding; protein C-terminus binding; protein complex scaffold; INVOLVED IN positive regulation of angiogenesis; positive regulation of endothelial cell migration; positive regulation of JUN kinase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN protein complex; INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; 17beta-estradiol 6 6 6 q24.3 149404636 149614083 + 148663729 148873185 + 148212114 148552049 + 1580863;6480464;8554872 12477932;12771949;14702039;15231748;15489334;15778465;15790807;17081983;17088907;17474147;18464913;18978678;19913121;20041166;20061627;20084102;20379614;20628086;21150874;21820526;21906983;22488244;22505724;22745667;22915266;23023727;23108792;23333244;23408906;23776175;24344014;9872452 23328 O94885;Q5TGN6 AB018333;ABBA01025696;ABBA01025697;ABBA01025698;ABBA01025699;ABBA01025700;ABBA01025701;ABBA01025702;ABBA01025703;AJ420508;AJ507735;AK023607;AK024403;AK025495;AK074249;AK300403;AL033378;AL357567;AL359382;AL513164;AL589940;AMYH02014676;AMYH02014677;AMYH02014678;AMYH02014679;AMYH02014680;AMYH02014681;AY351979;AY927559;BC028303;BC063279;BN000088;BX537611;CH471051;NM_015278;XM_005266874;XM_005266875;XM_006715406 AAH28303;AAH63279;AAQ55463;BAA34510;BAB14909;BAG62133;CAD47811;CAD92036;CAD97798;EAW47815;EAW47816;NP_056093;O94885;XP_005266931;XP_005266932;XP_006715469 Hs.193133 1335494;1335712;1679263;1691002;1708298;1752475;1761201;1774310;1853361;1853363;2154611;2158036;2185857;2219668;5022450;7184929;7186519 A006J24;AL021862;D10S275;D6S1118E;D6S1637;D6S2102;D6S2201;D6S311;G20871;RH64974;RH99139;SASH1__5546;SHGC-106319;SHGC-145214;SHGC-80099 KIAA0790;RP3-323M4.1;SH3D6A;dJ323M4;dJ323M4.1 2500002E12Rik;OTTHUMP00000017386;SAM and SH3 domain-containing protein 1;proline-glutamate repeat-containing protein protein-coding ENSG00000111961 HGNC:19182 06408 607955 VALIDATED 736742 SART1 squamous cell carcinoma antigen recognized by T cells This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 63052947 63072024 + 65729160 65747607 + 65961689 65980136 + 1580863;6480464;6907045;8554872 10209962;10551332;10853014;10929426;11092984;11156463;11350945;11410364;11971955;11991638;12032085;12189166;12477932;14702039;15175327;15302935;15489334;15561718;15620657;16055720;16158934;16344560;16687569;16723661;17000644;17081983;17332742;17643375;18029348;18235501;18374504;18838541;19471022;19596686;19615732;20020773;20056645;20360068;20797634;21139048;21145461;21252943;21614000;21628590;21693764;21832049;21890473;21906983;22027693;22365833;22586326;22939629;22944692;23000965;23022380;23125841;23398456;23443559;23537643;23602568;23726919;24244333;24457600;24583282;24654937;24816145;24872507;25027693;8125298;8889548;9449708;9856836 9092 E9PQI8;O43290 AB006198;ABBA01024094;AF109680;AF353625;AK223016;AK293200;AK297589;AK298184;AMYH02024966;AMYH02024967;AP006287;AU136920;AW082868;BC001058;BC018607;BM668558;BM693243;BT006637;BX648500;CH471076;NM_005146;Y14314 AAD20223;AAH01058;AAK49523;AAP35283;ABM82620;ABW03446;BAA24056;BAD96736;BAG56740;BAG59976;BAG60455;CAA74694;EAW74474;EAW74475;NP_005137;O43290 Hs.502883 1675764;2131268;2191527 MARC_26072-26073:1032454189:5;RH16397;RH92212 Ara1;HOMS1;MGC2038;SART-1;SART1259;SNRNP110;Snu66;hSART-1;hSnu66 IgE autoantigen;OTTHUMP00000234172;SART1(259) protein;SART1(800) protein;SNU66 homolog;U4/U6.U5 tri-snRNP-associated 110 kDa protein;U4/U6.U5 tri-snRNP-associated protein 1;small nuclear ribonucleoprotein 110kDa (U4/U6.U5);squamous cell carcinoma antigen recognised by T cells;squamous cell carcinoma antigen recognized by T cells 1;squamous cell carcinoma antigen recognized by T-cells 1 APPROVED protein-coding ENSG00000175467 HGNC:10538 10440 605941 REVIEWED 1346323 SAT1 spermidine/spermine N1-acetyltransferase 1 The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009] X X X p22.1 27919647 27922702 + 23801275 23804327 + 23783158 23786210 + 1580863;6480464;6483358;6907045;7242932;7240710;7244190;8699517 15541750;19364912;2292587 10646846;11256614;11485561;11779193;11866539;12083816;12215835;12427553;12477932;12539042;12600646;12803540;1417826;14506281;15146197;15159132;15213272;15479742;15489334;15905201;16169070;16189514;16207710;16262603;16389195;1652956;16544326;16637064;16757480;16769699;16854216;17065202;17516632;17875644;18430370;18660501;18759322;19051286;19060904;19149577;19152344;19162121;19446796;19686286;19727732;19851986;1985966;1989509;19920120;20212040;20628624;21103663;21139048;21152090;21501848;21890473;21906983;21988832;22179681;22354986;2241897;23701549;23768751;23891576;23903781;8033120;8573111;8670140;8954982 6303 A6NJE6;A6NM56;E9PD37;P21673;Q6ICU9 ABBA01072231;AC131011;AF251292;AK310078;AK310094;AK312162;AK315888;AL050290;AMYH02039034;AW874291;AY841998;BC002503;BC008424;BR000410;BT006825;CD516700;CD638929;CH471074;CN271682;CR450294;M55580;M77693;NG_012929;NM_002970;NR_027783;U40369;Z14136 AAA60573;AAA63260;AAA98854;AAG44592;AAH02503;AAH08424;AAP35471;AAW03315;BAF98779;BAG35096;CAA78509;CAG29290;EAW98999;EAW99000;FAA00324;NP_002961;P21673 Hs.28491 1668143;1679700;1773099;2187227;2189403;5017887 MARC_4853-4854:991938661:1;RH17558;RH77846;RH81013;SAT1;SHGC-34052 DC21;KFSD;KFSDX;SAT;SSAT;SSAT-1 OTTHUMP00000023061;OTTHUMP00000023064;diamine N-acetyltransferase 1;diamine acetyltransferase 1;polyamine N-acetyltransferase 1;putrescine acetyltransferase;spermidine/spermine N(1)-acetyltransferase 1;spermidine/spermine N1-acetyltransferase alpha APPROVED protein-coding ENSG00000130066 HGNC:10540 02431 308800;313020 REVIEWED 1323212 SART3 squamous cell carcinoma antigen recognized by T cells 3 The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008] 12 12 12 q24.1 108585375 108624556 - 108915991 108955165 - 108522214 108561389 - 1580863;6480464;7240710;8554872;8699517 10463607;10761712;10844547;11092984;11477570;11920522;11959860;12032085;12374753;12421765;12477932;12578909;14749385;15031286;15146197;15314151;15452143;15489334;15840095;16344560;16713569;17081983;17353931;17643375;17932509;18029348;18567812;19148489;19615732;20360068;20595234;21139048;21145461;21252943;21319273;21890473;21906983;21988832;22072767;22132941;22586326;22751105;22863883;22939629;23022198;23088399;23463506;23667531;23822148;23834120;24217245;24457600;24526689;24778252;24816145;24984263;25027693;8125298;8590280 9733 B7ZKM0;F8VV04;F8VVK9;F8VZM2;F8W667;H0YHU8;Q15020 AB020880;AB073647;ABBA01053133;AC008119;AC010206;AF387506;AI656011;AK225174;AK290209;AK299250;AK302332;AK304834;AMYH02027155;BC004547;BC015627;BC024279;BC032601;BC041638;BC093784;BC103706;BC111983;BC143253;BQ231651;CH471054;CN349201;D63879;DA391623;KF455716;KF511170;NG_012155;NM_014706;XM_005269241 AAH32601;AAH41638;AAH93784;AAI03707;AAI11984;AAI43254;AAK69347;BAA09929;BAA78384;BAF82898;BAG61281;BAG63664;BAG65578;EAW97816;EAW97817;NP_055521;Q15020;XP_005269298 Hs.584842 1337955;1339239;1340552;1663059;1668012;1684662;1712502;1744491;1782774;2173090;2217936;5492145 A007J29;D12F290S2;D12S1605;D12S1727;D12S78;G54201;RH25375;SART3;SART3_3515;SGC31638;SHGC-173295;WI-17609 DSAP1;KIAA0156;MGC138188;P100;RP11-13G14;SART-3;TIP110;hSART-3;p110;p110(nrb) OTTHUMP00000241139;OTTHUMP00000241141;OTTHUMP00000241143;squamous cell carcinoma antigen recognised by t cells 3;squamous cell carcinoma antigen recognized by T-cells 3;tat-interacting protein of 110 kDa APPROVED protein-coding ENSG00000075856 HGNC:16860 11532 175900;611684 REVIEWED 9068801 SATB1-AS1 SATB1 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 p24.3 18567884 18571496 + 18526392 18607129 + 8554872 24159190 101927777 ABBA01025113;AC105765;AC133009;AMYH02006356;AW027730;BF115425;BX099520;DR006704;NR_125803;XM_006713453;XM_006726406;XR_245191;XR_249401;XR_249402;XR_251330;XR_425592;XR_425593;XR_425595;XR_427316;XR_427317;XR_431568;XR_431569 XP_006713516;XP_006726469 Hs.543235 ncrna HGNC:50687 VALIDATED 1317312 SAT2 spermidine/spermine N1-acetyltransferase family member 2 ENCODES a protein that exhibits diamine N-acetyltransferase activity; INVOLVED IN nor-spermidine metabolic process; putrescine acetylation; spermidine acetylation; PARTICIPATES IN arginine and proline metabolic pathway; hypoxia inducible factor pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 17 17 17 p13.1 7555972 7557610 - 7529552 7531194 - 7626234 7627876 - 737633;1580863;6480464;6483358;6907045 12477932;19364912 12803540;15283699;15342556;15489334;15604093;15761153;16189514;16596569;17119850;17558023;17875644;18676680;18949426;19056867;19170196;19625176;19692168;22675492 112483 I3L0W4;I3L2W7;Q96F10 ABBA01054875;AC007421;AF348524;AMYH02032910;BC011751;BC065922;BC095466;BP317593;CH471108;NG_011981;NM_133491;XM_005256432;XM_006721434;XM_006721435;XM_006721436;XR_429807 AAH11751;AAH95466;AAL83905;ADZ15794;EAW90151;EAW90152;EAW90153;NP_597998;Q96F10;XP_005256489;XP_006721497;XP_006721498;XP_006721499 Hs.10846 1690458;2139571;2183546 RH18329;RH66154;SHGC-166 SSAT2 OTTHUMP00000135292;diamine N-acetyltransferase 2;diamine acetyltransferase 2;polyamine N-acetyltransferase 2;spermidine/spermine N(1)-acetyltransferase 2;spermidine/spermine N1-acetyltransferase 2;thialysine N-epsilon-acetyltransferase protein-coding ENSG00000141504 HGNC:23160 15296 611463 VALIDATED 1319808 SARS2 seryl-tRNA synthetase 2, mitochondrial This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009] 19 19 19 q13.2 36208338 36223965 - 39405904 39421536 - 38915264 38930896 - 1580863;6480464;8699517;7240710;8554872 10764807;11317363;11331419;12477932;14702039;15109557;15489334;16133542;17353931;18755224;19439209;19615732;20186120;20877624;21139048;21145461;21890473;22145905;22939629;24250222 54938 B4DJM9;M0QWZ7;M0QX29;M0R1C0;M0R259;M0R2H5;Q9NP81 AB029948;ABBA01040709;ABBA01040710;AC011455;AK000457;AK098522;AK293414;AK296152;AK296170;AMYH02036083;AMYH02036084;BC001020;BC042912;CA415983;CH471126;NG_031865;NM_001145901;NM_017827 AAH01020;AAH42912;BAA91176;BAA99557;BAG56921;BAG58891;BAG58908;EAW56844;EAW56845;EAW56846;EAW56847;EAW56848;NP_001139373;NP_060297;Q9NP81 Hs.709416 1661792;1688881;2109801;2116913;2145505;5094910 MRPS12;RH12266;RH39132;SARS2_9851;SHGC-33491;STS-T78012 FLJ20450;SARS;SARSM;SERS;SYS;SerRS;SerRSmt;mtSerRS mitochondrial seryl-tRNA synthetase;serine tRNA ligase 2, mitochondrial;serine--tRNA ligase;serine--tRNA ligase, mitochondrial;serine-tRNA ligase, mitochondrial;seryl-tRNA synthetase, mitochondrial;seryl-tRNA(Ser/Sec) synthetase;seryl-trna synthetase 2 APPROVED protein-coding ENSG00000104835 HGNC:17697 15295 612804;613845 REVIEWED 2303663 SATB2-AS1 SATB2 antisense RNA 1 INTERACTS WITH valproic acid 2 2 2 q33.1 194088090 194092750 + 200332821 200337481 + 199468098 199472758 + 6480464 12477932;14702039 150538 Q96MQ0 ABBA01062505;AC017096;AK056625;AK123639;AK290476;AK291368;AK311461;AMYH02005532;BC035902;BC101782;BC113374;CH471063;NG_016976;NR_026830 BAB71234;BAF83165;BAF84057;EAW70182;EAW70183 Hs.721226 5015961;5022450;5024761;5037552;5493145 D10S275;D15S1477;D8S2279;RH36905;UniSTS:484417 MGC126831 APPROVED ncrna ENSG00000225953 HGNC:26490 08118 VALIDATED 1343887 SATL1 spermidine/spermine N1-acetyl transferase-like 1 ENCODES a protein that exhibits N-acetyltransferase activity (inferred); INVOLVED IN metabolic process (inferred) X X X q21.1 84586693 84603357 - 84347292 84363974 - 85092286 85109062 - 737633;1580863 12477932 15489334;15772651 340562 Q86VE3 ABBA01051642;AMYH02039889;BC043215;BC126401;CH471104;NG_016590;NM_001012980;XM_006724647;Z83820;Z99571 AAH43215;AAI26402;EAW98567;NP_001012998;Q86VE3;XP_006724710 Hs.640783 1847583;1858566;2142960 A006S21;DXS6994E;DXS8341 OTTHUMP00000023622;spermidine/spermine N(1)-acetyltransferase-like protein 1 protein-coding ENSG00000184788 HGNC:27992 18497 VALIDATED 1351939 SAX1 spastic ataxia 1 (dominant) ASSOCIATED WITH SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (inferred) 7240710 114610 1340672 D12S93 HGNC:16474 108600 1348153 SBDSP1 Shwachman-Bodian-Diamond syndrome pseudogene 1 7 7 7 q11.23 69777836 69800422 - 72299952 72307978 + 72829373 72837399 + 11329013;12477932;12496757;15146197;16344560;8889548;9847074 155370 ABBA01063982;ABBA01063983;AC005236;AC211469;BC010183;BG212607;BM974324;BQ441749;CB216674;CN267170;CX867149;DA143511;NR_001588;NR_024109;NR_024110;NR_024111 AAQ96837 Hs.585053 1647085;1665484;1683815;5491932 D7S2749;D8S1491;RH18371;Sbds SBDSP APPROVED pseudo ENSG00000225648 HGNC:21646 VALIDATED 1322030 SAYSD1 SAYSVFN motif domain containing 1 FOUND IN intracellular membrane-bounded organelle; INTERACTS WITH (-)-epigallocatechin 3-gallate; paracetamol; potassium chromate 6 6 6 p21.2 40625262 40636287 - 39071840 39082865 - 39104064 39115089 - 6480464 11230166;12477932;14574404;14702039;15489334;17207965;18029348;19322201;24250222 55776 Q9NPB0 ABBA01038308;AF086405;AK001963;AL035690;AL136839;AMYH02013586;BC022007;CH471081;CR627244;CS072431;NM_018322;XM_005249222 AAH22007;ACE86965;ACE87655;ADQ32782;BAA92004;CAB66773;CAI93569;EAX03976;EAX03977;NP_060792;Q9NPB0;XP_005249279 Hs.58382 1680467;1745161;2136597;2148633;2149077;2149613;2156779;2176663;2181642 A004H40;GDB:595841;RH15833;RH36427;RH93841;SHGC-16715;SHGC-197;SHGC-31689;SHGC-57921 C6orf64;DKFZp434H012;FLJ11101 OTTHUMP00000016342;SAYSvFN domain-containing protein 1;hypothetical protein LOC55776;uncharacterized protein C6orf64 APPROVED protein-coding ENSG00000112167 HGNC:21025 12892 PROVISIONAL 1343440 SATB2 SATB homeobox 2 This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010] 2 2 2 q33 193889754 194091258 - 200134223 200335989 - 199269500 199471266 - 1580863;6480464;7240710;8699517;8554872 10470851;10964520;12477932;12915443;14701874;14702039;15489334;16327884;16953426;17377962;18029348;18333962;19322201;19668335;19937600;20228799;20308991;20634891;20829881;21343628;21677534;21890473;21965674;22570222;22815795;22825848;23701429;23728906;23925499;23966867;24316906;24437456;24565840 23314 B3KPQ9;C9JR56;F8WCV6;Q59FT3;Q9UPW6 AB028957;AB209376;ABBA01062504;ABBA01062505;AC016746;AC017096;AJ438951;AK025127;AK056638;AK291463;AMYH02005532;AX027043;BC098136;BC099723;BC103492;BC103500;CH471063;KF456756;NG_016976;NM_001172509;NM_001172517;NM_015265;XM_005246396;XM_006712372 AAH98136;AAH99723;AAI03493;AAI03501;ABZ92224;BAA82986;BAB15073;BAD92613;BAF84152;BAG51771;CAC09123;EAW70180;EAW70181;NP_001165980;NP_001165988;NP_056080;Q9UPW6;XP_005246453;XP_006712435 Hs.516617 1681486;1687910;1704076;1717823;1734244;1854902;2148469;2178473;2219670;5024912 A006V05;D2S1498E;D2S2708;RH121822;RH80503;RH91707;SATB2__5548;SHGC-83346;Satb2;WI-17677 FLJ21474;FLJ32076;GLSS;KIAA1034;MGC119474;MGC119477 DNA-binding protein SATB2;OTTHUMP00000163655;OTTHUMP00000205774;OTTHUMP00000205775;OTTHUMP00000208037;OTTHUMP00000208038;SATB family member 2;special AT-rich sequence-binding protein 2 APPROVED protein-coding ENSG00000119042 HGNC:21637 12178 119540;608148;612313 REVIEWED 1322290 SBDS Shwachman-Bodian-Diamond syndrome This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008] 7 7 7 q11.21 65655621 65663519 + 66452690 66460588 - 66987703 66995601 - 1599541;6480464;6907045;7240710;8554872;8699517 12496757 10810093;12032733;12477932;14702039;14743349;14749921;15284109;15342903;15489334;15635413;15769891;15860664;15942154;16529906;17046571;17207965;17400792;17475909;17478638;17643419;17916435;17920346;18024409;18190602;18268284;18280855;18324336;18478597;19009351;19014892;19148133;19602484;19759903;19816210;19951977;20015955;20053358;20301722;20979173;21044950;21139048;21660439;21695142;21890473;21906983;21963601;22371183;22863883;22939629;22997148;23000965;23115272;23189942;23831625;24250222;24406167;24624459;25027693 51119 F8WE72;Q9Y3A5 ABBA01048957;ABBA01048958;AC079920;AF151855;AK001779;AK289609;AMYH02015916;AY169963;BC065700;CH471140;CQ787569;NG_007277;NM_016038 AAD34092;AAH65700;AAN77490;ADQ31940;BAA91905;BAF82298;CAG17753;EAX07906;NP_057122;Q9Y3A5 Hs.110445 1647085;1665484;1683815;5491932 D7S2749;D8S1491;RH18371;Sbds CGI-97;FLJ10917;SDS;SWDS OTTHUMP00000159953;ribosome maturation protein SBDS;shwachman-Bodian-Diamond syndrome protein APPROVED protein-coding ENSG00000126524 HGNC:19440 07393 260400;607444 REVIEWED 2308875 SBF1P1 SET binding factor 1 pseudogene 1 8 8 8 q12.1 52352129 52358253 - 56361757 56367881 - 55449197 55455321 - 100133234 ABBA01041748;AF165144;AMYH02018009;AW297679;KF458760;KF459911;NR_027765 Hs.729852 1685632;2177312 RH47520;STS-T23637 pseudo ENSG00000248522 HGNC:31098 PROVISIONAL 1316338 SAV1 salvador family WW domain containing protein 1 WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012] 14 14 14 q13-q23 30967387 31002030 - 51100298 51135071 - 50633580 50668353 - 1580863;6480464;8554872 11027580;12202036;12477932;12969014;14702039;15489334;15688006;15778465;16344560;16751776;16930133;17207965;17379520;19212654;19322201;19797269;19950692;20562859;21076410;21104395;21145461;21489991;21567072;21988832;22185343;22570112;23455922;23524264;24255178;24347629;8125298 60485 G3V453;H0YJ02;H0YJH0;H0YJT4;Q9H4B6 ABBA01018142;AF088000;AJ292969;AK021500;AK023071;AK095903;AK225896;AK290883;AL606834;AL833378;AMYH02029169;BC006385;BC020537;CH471078;CR457297;DA479812;DA536352;DB543756;NM_021818 AAH20537;ADQ31795;BAB13835;BAB14390;BAF83572;BAG53163;CAC13972;CAG33578;EAW65702;EAW65703;EAW65704;NP_068590;Q9H4B6 Hs.642842;Hs.706933 1652733;1656847;1681298;1688560;1690556;1770770;1775032;1847002;2119706;2133698;2175602;2187621 A003P20;D14S1336;G20638;G36013;G36269;HSC2BE052;RH94145;RH98833;SGC35848;SHGC-67645;STS-AA036859;WI-16395 SAV;WW45;WWP4;hWW45 1700040G09Rik;45 kDa WW domain protein;OTTHUMP00000178976;OTTHUMP00000244675;WW domain-containing;WW domain-containing adaptor 45;salvador homolog 1 APPROVED protein-coding ENSG00000151748 HGNC:17795 06229 607203 REVIEWED 1316075 SBF1 SET binding factor 1 ENCODES a protein that exhibits Rab guanyl-nucleotide exchange factor activity; INVOLVED IN positive regulation of Rab GTPase activity; ASSOCIATED WITH Areflexia (inferred); Autosomal recessive inheritance (inferred); CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred); INTERACTS WITH (+)-catechin; 2-methylcholine; arsane 22 22 22 q13.33 34759447 34789477 - 50883429 50913467 - 50445000 50475038 - 1580863;6480464;8699517;7240710;8554872 10591208;10848615;11686296;11994405;12477932;12668758;14702039;15489334;17148452;19343720;19369647;19851296;20198315;20301641;21139048;21900206;22505724;22586326;23382691;23443559;23749797;24250222;8889548;9537414;9736772 6305 G5E933;H0Y5W8;O95248 AB209682;ABBA01042631;AF072929;AK057985;AL096767;AMYH02038611;AMYH02038612;AMYH02038613;AMYH02038614;BC009268;BC024101;BC040031;BC046169;BC056915;BC087612;BG766677;BI821356;BM975530;BU931657;BX341189;CA868136;CH471138;CR749672;NM_002972;U93181;XM_005261931;XM_005261932;XM_005261934;XM_005261935 AAC39675;AAC78842;AAH09268;AAH46169;AAH56915;AAH87612;ACE86433;ACE87108;BAD92919;CAH18463;EAW73536;EAW73537;EAW73538;EAW73539;EAW73540;NP_002963;O95248;XP_005261988;XP_005261989;XP_005261991;XP_005261992 Hs.589924 1682676;1685632;2108441;2146977;2160447;2177312 RH11296;RH46917;RH47520;RH47771;SBF1_8611;STS-T23637 CMT4B3;DENND7A;DKFZp761D0422;MGC99700;MTMR5 DENN/MADD domain containing 7A;OTTHUMP00000196597;OTTHUMP00000196599;SET-binding factor 1;myotubularin related 5;myotubularin-related protein 5 protein-coding ENSG00000100241 HGNC:10542 06788 603560;615284 VALIDATED 6766587 SBF2-AS1 SBF2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 11 11 11 p15.4 9901234 9954396 + 9779840 9832866 + 9758293 9811319 + 8554872 12477932;14702039 283104 ABBA01061164;ABBA01061165;AC026250;AK098060;AMYH02024323;BC073899;HG503517;KF455324;NR_036485 Hs.632156;Hs.734067 2116952;2127945;2153775;2175095 A003N02;RH18237;RH69947;WI-19474 RP11-540A21.3 APPROVED ncrna ENSG00000246273 HGNC:27438 VALIDATED 2302831 SBK2 SH3 domain binding kinase family, member 2 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); INTERACTS WITH cadmium atom 19 19 19 q13.42 53080945 53087914 - 56040780 56048435 - 55529413 55537076 - 6480464 12471243;15057824;17344846 646643 P0C263 ABBA01020868;ABBA01020869;AC008735;AMYH02036471;AX481603;NM_001101401;XM_006723327 CAD44406;NP_001094871;P0C263;XP_006723390 Hs.532676 SGK069 OTTHUMP00000208765;Putative uncharacterized serine/threonine-protein kinase SgK069;SH3-binding domain kinase family, member 2;Sugen kinase 69;serine/threonine-protein kinase SBK2 APPROVED protein-coding ENSG00000187550 HGNC:34416 VALIDATED 1344532 SBK1 SH3 domain binding kinase 1 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 17beta-estradiol; ethyl methanesulfonate; formaldehyde 16 16 16 p11.2 27083689 27113061 + 28270041 28335170 + 28258720 28323849 + 6480464 11322885;17081983;19041431;19240061;21104019 388228 Q52WX2 ABBA01017176;AC138904;AL390134;AMYH02031777;AMYH02031778;AY874862;CH471145;NM_001024401;XM_005255315 AAI72295;AAX59898;EAW55733;NP_001019572;Q52WX2;XP_005255372 Hs.97837 1334856;1675493;2179276 D16S299;D16S3022;RH92920 Sbk OTTHUMP00000231814;SH3-binding domain kinase 1;SH3-binding kinase 1;serine/threonine-protein kinase SBK1 APPROVED protein-coding ENSG00000188322 HGNC:17699 18608 VALIDATED 1354184 SBF2 SET binding factor 2 This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 9921603 10437602 - 9800214 10315754 - 9778667 10294207 - 6480464;7240710;8554872 10644431;11214970;12477932;12554688;12687498;14702039;15304601;15477569;15489334;15998640;16344560;16751776;17148452;17880751;18429927;18774718;18976975;19039035;19936222;20301532;20301641;20379614;21139048;23180869;23314748;23334996;24250222;9521281 81846 H0Y767;H0YD05;H0YDZ1;Q86WG5 AB051553;ABBA01061160;ABBA01061161;ABBA01061162;ABBA01061163;ABBA01061164;ABBA01061165;AC011092;AC015700;AC026250;AC080023;AC100763;AF085830;AI268862;AK022478;AK026571;AK091362;AK123621;AL512756;AL832942;AMYH02024323;AMYH02024324;AMYH02024325;AMYH02024326;AMYH02024327;AY234241;BC011143;BC027492;BC043389;BC053867;BC063656;BC101466;BX538184;BX647533;CR749312;CT000365;DA862574;KF455324;KF570262;NG_008074;NM_030962;XM_005253154;XM_005253155 AAH11143;AAH43389;AAH53867;AAH63656;AAI01467;AAO62733;BAB21857;BAG52341;BAG53924;CAC21675;CAD98056;CAH18167;CAH56315;NP_112224;Q86WG5;XP_005253211;XP_005253212 Hs.577252 1337036;1339126;1676676;1718159;1719703;1723943;1727145;2106459;2116952;2119503;2153775;2175095;5014039;5014051;5015619;5022651;5037552;7185150 A003N02;CMT4B2_4596;D11S1329;D11S1331;D11S2921;D11S3114;D11S4194;D22S1584;D8S2278;D8S2279;G62826;RH118704;RH122847;RH123540;RH18237;RH69947;RH80688;UniSTS:26777 CMT4B2;DENND7B;DKFZp779B2327;FLJ22918;FLJ41627;KIAA1766;MTMR13 DENN/MADD domain containing 7B;OTTHUMP00000231444;SET-binding factor 2;myotubularin related 13;myotubularin-related protein 13 APPROVED protein-coding ENSG00000133812 HGNC:2135 09649 604563;607697 REVIEWED 1320657 SBNO1 strawberry notch homolog 1 (Drosophila) INVOLVED IN regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH calcitriol; copper(2+) sulfate; cyclosporin A 12 12 12 q24.31 123365858 123427151 - 123773656 123849756 - 123289109 123365257 - 6480464;8554872 12477932;14702039;16751776;17308053;19471022;20379614;20686565;20881960;21139048;21890473;22449796;22504419;22863883;23974872;24097068;24816145 55206 A3KN83 AB014772;ABBA01060422;ABBA01060423;ABBA01060424;ABBA01060425;ABBA01060426;ABBA01060427;AC068768;AC137767;AC246790;AF086046;AK001563;AK001695;AK024128;AK074256;AK092518;AK096864;AK122703;AK307488;AMYH02027452;AMYH02027453;AMYH02027454;AMYH02027455;AY364255;BC030544;BC041141;BC129949;BC133704;CH471054;NM_001167856;NM_018183;XM_005253572;XM_005253573;XM_005253575;XM_005253576;XM_006719473;XM_006719474 A3KN83;AAH30544;AAI33705;AAQ76814;BAA91758;BAA91842;BAB19784;BAG53383;EAW98402;EAW98403;EAW98404;EAW98405;NP_001161328;NP_060653;XP_005253629;XP_005253630;XP_005253632;XP_005253633;XP_006719536;XP_006719537 Hs.7012 1647384;1661254;1697816;1736252;1736254;1847210;2106777;2118759;2131213;2134586;2168773;5015619;5017633;5022200;5022578;5022651;5037552 A003B12;D11S2921;D11S3114;D12S1139E;D12S1208E;D12S1209E;D1S1423;D8S2279;GC22S16;L18426;RH102432;RH44771;SBNO1;STS-H24468;STS-N94741;UniSTS:2326;WI-22211 FLJ10701;FLJ10833;FLJ14066;FLJ16176;FLJ35199;MOP3;RP11-282O18.6;Sno monocyte protein 3;protein strawberry notch homolog 1;sno, strawberry notch homolog 1 (drosophila) protein-coding ENSG00000139697 HGNC:22973 11533 614274 VALIDATED 1602809 SBSN suprabasin ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH acetylsalicylic acid; fonofos; parathion 19 19 19 q13.13 32727776 32732706 - 36014269 36019253 - 35523367 35528351 - 6480464;8554872 10737800;12228223;12477932;12975309;15234001;15256262;17562024;19199708;21139048;22792300;23144906 374897 K7ESC4;Q6UWP8 AA055367;ABBA01018746;AC002389;AK291305;AMYH02035985;AY358701;BC063640;BF838582;BX648076;CU448844;NM_001166034;NM_001166035;NM_198538 AAH63640;AAQ89064;BAF83994;NP_001159506;NP_001159507;NP_940940;Q6UWP8 Hs.433484 MGC75533;UNQ698 HLAR698;OTTHUMP00000225014;OTTHUMP00000225015 protein-coding ENSG00000189001 HGNC:24950 18498 609969 VALIDATED 1342540 SC Scianna blood group 6306 HGNC:10544 111620;111750 1316240 SBNO2 strawberry notch homolog 2 (Drosophila) INVOLVED IN macrophage activation involved in immune response; negative regulation of transcription, DNA-templated; regulation of inflammatory response; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.3 1040607 1110334 - 1107633 1174282 - 1107634 1174283 - 6480464;8554872 10231032;12477932;15342556;18025162;19068216;19760754;19913121;20379614;20628086;21102463;23128233;23898208;24816145 22904 K7ENA9;K7ERL2;K7ES28;Q9Y2G9 AB023180;ABBA01002621;ABBA01002622;ABBA01002623;ABBA01002624;ABBA01002625;ABBA01002626;AC005390;AC093067;AC120982;AC217140;AI433817;AK074102;AK125139;AK292407;AK296849;AK300981;AK309167;AMYH02035134;AMYH02035135;AMYH02035136;AMYH02035137;AMYH02035138;BC106021;BC127011;BG332816;BP315965;BQ950129;CH471139;DC400108;NM_001100122;NM_014963;XM_005259519;XM_005259520 AAC28919;AAI06022;AAI27012;BAA76807;BAB84928;BAF85096;BAG54153;BAG59415;BAG62603;EAW69541;EAW69542;NP_001093592;NP_055778;Q9Y2G9;XP_005259576;XP_005259577 Hs.408708 1712853;2119273;2153954;2173199;2191389 Bdyc2h09;G21495;MARC_21175-21176:1027090938:1;RH120143;STS-R96945 FLJ00173;KIAA0963;SNO;STNO protein strawberry notch homolog 2 protein-coding ENSG00000064932 HGNC:29158 17203 615729 VALIDATED 1346823 SC4MOP sterol-C4-methyl oxidase pseudogene X X X p21.1 41942799 41943680 + 37805137 37806018 + 37945884 37946765 + 6308 ABBA01047073;AL121578;AMYH02039170;NG_001194;U93261 DESP4P1 pseudo HGNC:10546 INFERRED 1602645 SBSPON somatomedin B and thrombospondin, type 1 domain containing ENCODES a protein that exhibits polysaccharide binding (inferred); scavenger receptor activity (inferred); INVOLVED IN immune response (inferred); receptor-mediated endocytosis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular matrix; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4-nonylphenol; all-trans-retinoic acid 8 8 8 q21.11 69973957 70002409 - 73976778 74005507 - 73064543 73093272 - 6480464;8554872 12107410;12477932;14702039;20551380;22412388;22969067 157869 Q8IVN8 ABBA01041960;ABBA01041961;AC022893;AC100823;AF087977;AI698180;AK292970;AL080094;AMYH02018206;AMYH02018207;AY040546;BC042877;CH471068;NM_153225;XM_005251178 AAH42877;AAK83466;BAF85659;EAW86996;NP_694957;Q8IVN8;XP_005251235 Hs.439040 1672518;1682734;1698076;1752551;1761959;1786740 RH102570;RH94170;SHGC-106470;SHGC-145894;SHGC-155272;SHGC-35192 C8orf84;FLJ40021;RPESP OTTHUMP00000211532;RPE spondin;RPE-spondin;somatomedin-B and thrombospondin type-1 domain-containing protein APPROVED protein-coding ENSG00000164764 HGNC:30362 15271 VALIDATED 1345814 SCA13 spinocerebellar ataxia 13 ASSOCIATED WITH Spinocerebellar ataxia 13 (inferred) 7240710 10820125 57363 HGNC:10552 605259 1352262 SCA11 spinocerebellar ataxia 11 ASSOCIATED WITH Spinocerebellar Ataxia 11 (inferred) 7240710 10417284 10977 HGNC:10550 604432 1351203 SCA15 spinocerebellar ataxia 15 ASSOCIATED WITH Spinocerebellar Ataxia 15 (inferred); Spinocerebellar Ataxia 29 (inferred) 7240710 11723290 140449 HGNC:13439 117360;606658 1353892 SCA16 spinocerebellar ataxia 16 ASSOCIATED WITH Spinocerebellar Ataxia 15 (inferred); Spinocerebellar Ataxia 29 (inferred) 7240710 57043 HGNC:10554 117360;606658 1351356 SC5D sterol-C5-desaturase This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 118322556 118343287 + 121163388 121184119 + 121292679 121313410 + 1580863;1599537;2316911;2316868;2316857;6480464;7240710;8554872;8699517 12189593;12668600;16876788;7961720 10344195;10601301;10769175;10786622;11731337;12477932;12812989;14702039;15489334;17207965;18660489;20144677;20379614;20634891;21890473;21906983;21963094;21987572;23000965;7560069;7770068;8125298;8466936;8976377 6309 E9PPW5;E9PQ91;O75845 AB057650;ABBA01031307;AF069469;AF187981;AK027246;AK096847;AK222686;AK223141;AK312634;AMYH02025685;AP002959;BC012333;BC050427;BI559520;CH471065;NG_009446;NM_001024956;NM_006918;R60770 AAF00544;AAH12333;AAH50427;ADQ31867;BAB68218;BAD96406;BAD96861;BAG35518;EAW67519;EAW67520;EAW67521;EAW67522;NP_001020127;NP_008849;O75845 Hs.287749 1652553;1656098;1657439;1678953;1857222;2117092;2130665;5014051;5022200;5022651;5118444 A007C08;D11S2317E;D11S2921;D11S3316;D11S4289;D8S2278;L18426;RH18263;RH65852;RH79981;WI-19895 ERG3;S5DES;SC5DL 3beta-hydroxysteroid-delta5-desaturase;C-5 sterol desaturase;OTTHUMP00000231829;OTTHUMP00000231830;OTTHUMP00000231831;OTTHUMP00000231832;delta(7)-sterol 5-desaturase;fungal ERG3, delta-5-desaturase-like;lathosterol 5-desaturase;lathosterol dehydrogenase;lathosterol oxidase;sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like APPROVED protein-coding HGNC:10547 09078 602286 REVIEWED 1347005 SCA18 spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy) ASSOCIATED WITH Sensorimotor neuropathy with ataxia, autosomal dominant (inferred) 7240710 11992570 94008 HGNC:15744 607458 7386817 SBK3 SH3 domain binding kinase family, member 3 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred) 19 19 19 q13.42 53091464 53098068 - 56052023 56056909 - 55540656 55545543 - 12471243;15057824;16344560 100130827 K7EP79;P0C264 AADB02020230;AADB02020231;ABBA01020867;ABBA01020868;AC008735;AMYH02036471;DB047407;KF459708;NM_001199824 NP_001186753;P0C264 Hs.712129 SGK110 SH3-binding domain kinase family member 3;Sugen kinase 110;putative uncharacterized serine/threonine-protein kinase SgK110;uncharacterized serine/threonine-protein kinase SBK3 protein-coding ENSG00000231274 HGNC:44121 VALIDATED 1349872 SCA19 spinocerebellar ataxia 19 ASSOCIATED WITH Spinocerebellar ataxia 19 (inferred) 7240710 12384780 140452 1338626 D1S534 HGNC:17033 607346 1352970 SCA21 spinocerebellar ataxia 21 ASSOCIATED WITH Spinocerebellar ataxia 21 (inferred) 7240710 11160961 170545 1338347;1338518;7183790 D7S2464;D7S516 HGNC:17172 607454 1342705 SCA22 spinocerebellar ataxia 22 ASSOCIATED WITH Spinocerebellar ataxia 19 (inferred) 7240710 12764052 140575 HGNC:17320 607346 1354041 SCA20 spinocerebellar ataxia 20 7240710 14998916 407973 HGNC:17204 1344127 SCA26 spinocerebellar ataxia 26 ASSOCIATED WITH Spinocerebellar ataxia 26 (inferred) 7240710 408221 HGNC:31097 609306 1354115 SCA25 spinocerebellar ataxia 25 ASSOCIATED WITH Spinocerebellar ataxia 25 (inferred) 7240710 14705117 338435 HGNC:20684 608703 1347379 SCA23 spinocerebellar ataxia 23 ASSOCIATED WITH Spinocerebellar ataxia 23 (inferred) 7240710 259268 HGNC:19051 610245 1349236 SCA4 spinocerebellar ataxia 4 6312 HGNC:10557 1343643 SCA5 spinocerebellar ataxia 5 ASSOCIATED WITH SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (inferred); Spinocerebellar Ataxias (inferred) 7240710 7874171 6313 HGNC:10558 600224;615386 1342581 SCA9 spinocerebellar ataxia 9 ASSOCIATED WITH Spinocerebellar Ataxias (inferred) 7240710 9159738 140451 HGNC:13440 612876 5687795 SCAANT1 SCA7/ATXN7 antisense RNA 1 p21 21689595 100861563 BU569004 1654372 A007I19 ATXN7-AS1 APPROVED ncrna HGNC:43718 614481 1313660 SATB1 SATB homeobox 1 This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] 3 3 3 p23 18327413 18424451 - 18389133 18480265 - 18345806 18444871 - 1580863;6480464;8554872 10373541;11463840;11937547;12036295;12374985;12477932;12692553;12766061;14605447;1505028;15489334;15561718;15618465;15677454;15713622;15851481;15970696;16189514;16344560;16371359;16377216;16630892;17057718;17173041;17343824;17376900;17652321;18337816;18408014;19072498;19103759;19304547;19332023;19860849;20126258;20351170;20379614;20584685;20595686;20811679;20980149;21139048;21232178;21270445;21355308;21597389;21743493;21764697;21767935;21799257;21841785;21870058;22088470;22139419;22328728;22583549;22683624;22710879;22771615;22782115;22820583;22839214;22864778;22879953;22935204;22998183;23076250;23188721;23251624;23278463;23308245;23317753;23326301;23437226;23516037;23613626;23642278;23686316;23696028;23894778;24009715;24047082;24176859;24260116;24370885;24747435;7829101;8114718;9284917;9417904;9886398 6304 C9IZC5;C9J3I0;C9J7F3;C9JGL9;C9JLL5;C9JP21;H0YN86;Q01826 AA001621;AB209761;ABBA01025116;AC139618;AC144521;AK127242;AMYH02006355;AU127749;BC001744;BE218845;BI494258;CD677701;CH471055;DA938384;DB134320;DB141938;GN344109;HI589661;JC304900;M97287;NG_027814;NM_001131010;NM_001195470;NM_002971;U92993;XM_006713280;XM_006713281 AAA60304;AAH01744;ABM82796;ABM85984;BAD92998;BAG54463;CAY55990;CBX55095;CDM55585;EAW64291;EAW64292;EAW64293;NP_001124482;NP_001182399;NP_002962;Q01826;XP_006713343;XP_006713344 Hs.517717 1655953;1662480;1687798;1709962;1765483;1788652;1851602;1854554;1855981;2109803;2112600;2114953;2123794;2139632;2182641;5118081 D3S4171;D3S4360;G09847;G64287;RH18154;RH68018;RH68415;RH91898;SATB1_8610;SGC34436;SHGC-148967;SHGC-76756;SHGC-76759;SHGC-8047;SHGC-82249;STS-M97287 DNA-binding protein SATB1;OTTHUMP00000160335;OTTHUMP00000207687;OTTHUMP00000207689;special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA's);special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA);special AT-rich sequence-binding protein 1 APPROVED protein-coding ENSG00000182568 HGNC:10541 03647 602075 REVIEWED 1354010 SCAF11 SR-related CTD-associated factor 11 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN RNA splicing; RNA splicing, via transesterification reactions; spliceosomal complex assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH (-)-demecolcine; (S)-nicotine; 17beta-estradiol 12 12 12 q12 45110253 45181745 - 46312914 46385898 - 45919131 45992061 - 1580863;6480464;8554872 10069390;10508479;12477932;14702039;15302935;15489334;16611372;16713569;17081983;18029348;19471022;19668339;20379614;21145461;21693764;21890473;21906983;21963094;21988832;22586326;22990118;23000965;24250222;24457600;24639526;8208298;9224939;9447963 9169 A8MTP4;A8MUK0;F8VXG7;F8W6K1;Q99590 ABBA01031452;ABBA01031453;AC000015;AC084878;AF030234;AF147405;AK026473;AK096682;AK302999;AK314093;AMYH02026403;BC017465;BC017851;BC033589;BC040951;CH471111;NM_004719;XM_005269230;XM_006719692;Y11251 AAC39565;AAH17851;AAH33589;AAH40951;AAI41553;BAG36788;BAG64134;CAA72121;EAW57892;EAW57893;EAW57894;NP_004710;Q99590;XP_005269287;XP_006719755 Hs.210367 1660167;1666853;1668696;1687824;1750121;1778176;2121553;2130386;2168723;2169631;2176251;2190567;5015619;5037552 D11S3114;D8S2279;EST4E5;RH44548;RH44967;RH65885;RH94197;SGC32980;SHGC-112246;SHGC-30766;SHGC-51985;STS-N22508;WI-18558;WI-19268 CASP11;SFRS2IP;SIP1;SRRP129;SRSF2IP CTD-associated SR protein 11;OTTHUMP00000195169;SC35-interacting protein 1;SFRS2-interacting protein;SR-related and CTD-associated factor 11;SRSF2-interacting protein;renal carcinoma antigen NY-REN-40;serine/arginine-rich splicing factor 2, interacting protein;serine/arginine-rich splicing factor 2-interacting protein;splicing factor, arginine/serine-rich 2, interacting protein;splicing factor, arginine/serine-rich 2-interacting protein;splicing regulatory protein 129 APPROVED protein-coding ENSG00000139218 HGNC:10784 04720 603668 VALIDATED 8656384 SCAMP1-AS1 SCAMP1 antisense RNA 1 5 5 5 q14.1 73547843 73551952 - 77654625 77656360 - 78358764 78360541 - 12477932 728769 ABBA01061996;AC104108;AF086472;AK129849;AMYH02011628;BC039455;NR_105014 Hs.586193 ncrna ENSG00000245556 HGNC:50544 VALIDATED 1342919 SCAF8 SR-related CTD-associated factor 8 ENCODES a protein that exhibits RNA polymerase core enzyme binding; INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; nuclear matrix (ortholog); INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; formaldehyde 6 6 6 q25.1-q25.3 155788784 155889386 + 155054512 155282708 + 154733378 154834244 + 1580863;6480464;8554872 10470851;11101529;12477932;14574404;14702039;15302935;16344560;17081983;18029348;18550522;19471022;21139048;21890473;21906983;22939629;23000965;24550385;8889548 22828 B7Z3A4;B7Z876;Q05BU5;Q8NDE9;Q9UPN6 AB029039;ABBA01025588;ABBA01025589;ABBA01025590;AK001530;AK023859;AK295651;AK302969;AK303001;AK307815;AL121952;AL136976;AL591499;AL833928;AMYH02014777;AMYH02014778;AMYH02014779;AMYH02014780;BC032728;BC070071;BM976977;BX090356;CH471051;DA219101;NM_001286188;NM_001286189;NM_001286194;NM_001286199;NM_014892 AAH32728;AAH70071;BAA83068;BAB14705;BAH12140;BAH13862;BAH13874;CAD38784;EAW47696;EAW47697;NP_001273117;NP_001273118;NP_001273123;NP_001273128;NP_055707;Q9UPN6 Hs.591329 1339613;1658856;1676071;1695732;2108897;2115086;2119238;7185261 AFM292yd5;D6S1130E;D6S1459;D6S448;RBM16__5653.2;RH46142;SHGC-82657 KIAA1116;RBM16 CDC5L complex-associated protein 7;OTTHUMP00000017469;RNA binding motif protein 16;RNA-binding motif protein 16;RNA-binding protein 16;SR-like CTD-associated factor 8;SR-related and CTD-associated factor 8;putative RNA-binding protein 16 APPROVED protein-coding ENSG00000213079 HGNC:20959 11487 616024 VALIDATED 731550 SCAMP1 secretory carrier membrane protein 1 This gene product belongs to the SCAMP family of proteins, which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that these protein family members may function at the same site during vesicular transport rather than in separate pathways. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 5 5 5 q14.1 73549557 73669746 + 77656339 77776562 + 78360515 78480739 + 1580863;6480464 10777571;11042152;11042173;11050114;12124380;12475951;12477932;14702039;14759258;15489334;15840657;16344560;16713569;19322201;19668339;20379614;21139048;21890473;21906983;21963094;21987572;22053931;22505724;23000965;23653380;24250222;25015289;8125298;8404846;8619474;9110174;9224770;9378760;9653160;9658162 9522 B4E2V7;O15126;Q96AZ4 ABBA01061996;ABBA01061997;ABBA01061998;AC010585;AC104108;AF005037;AF038966;AF131858;AK001417;AK001541;AK225172;AK290225;AK298146;AK304452;AL049223;AMYH02011628;AMYH02011629;AMYH02011630;AMYH02011631;AMYH02011632;AW590077;BC009787;BC015065;BC016355;BC034048;CB960371;CH471084;CR542286;DB213762;KF510914;NM_001290229;NM_004866;NR_110885 AAB62722;AAC39864;AAH15065;AAH16355;AAH34048;BAF82914;BAG60422;BAG65269;CAG47081;EAW95814;EAW95815;EAW95816;EAW95817;NP_001277158;NP_004857;O15126 Hs.482587 1689203;1707096;1735500;1735578;1751725;1754353;1764499;1775804;1798116;1855910;1856647;1856649;2187038;5021872;5022200;5037552;5491808 A009A26;D5S1625E;D5S1690E;D5S1734;D5S1854;D8S2279;L18426;RH36123;RH91729;SCAMP1;SCAMP1_1839;SHGC-105737;SHGC-132376;SHGC-148104;SHGC-24296;SHGC-81307;sY3084 SCAMP;SCAMP37 OTTHUMP00000222103;secretory carrier-associated membrane protein 1 APPROVED protein-coding HGNC:10563 06072 606911 REVIEWED 1316447 SCAI suppressor of cancer cell invasion This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] 9 9 9 q33.3 98352855 98553772 - 127704887 127905838 - 124942608 125143559 - 6480464;8554872 12477932;14702039;15164053;16344560;19350017;20379614;20562864;22939629;23178076;23593242;24785374 286205 H7C4U2;H7C5A3;Q3SXZ0;Q8N9R8 ABBA01043758;ABBA01043759;ABBA01043760;ABBA01043761;ABBA01043762;ABBA01043763;ABBA01043764;ABBA01043765;ABBA01043766;ABBA01043767;ABBA01043768;ABBA01043769;ABBA01043770;ABBA01043771;ABBA01043772;ABBA01043773;ABBA01043774;ABBA01043775;AF086497;AK021820;AK093983;AK098024;AL445930;AL451125;AMYH02021636;AMYH02021637;AMYH02021638;AMYH02021639;AMYH02021640;AMYH02021641;AMYH02021642;AMYH02021643;AMYH02021644;BC029431;BC037940;BC104030;BC104031;BC104032;BM873972;CH471090;DB048788;NG_016620;NM_001144877;NM_173690;XR_428524 AAI04031;AAI04032;AAI04033;BAC05217;EAW87608;EAW87609;NP_001138349;NP_775961;Q8N9R8 Hs.59504 1336865;1341436;1749681;1856364;2118208;2141575;2190883;5014023;5015619;5015959;5022578;5037552;5118718 D10S2448;D11S3114;D11S3590;D13S1553;D1S1423;D8S2279;D9S1789;D9S1825;G17284;MARC_10305-10306:998934185:1;RH79254;SGC34503;SHGC-111358 C9orf126;FLJ11758;FLJ36664;MGC120525;MGC120526;MGC120528;NET40 OTTHUMP00000022121;OTTHUMP00000215847;OTTHUMP00000215848;suppressor of cancer cell invasion protein APPROVED protein-coding ENSG00000173611 HGNC:26709 12941 REVIEWED 1317892 SCAF4 SR-related CTD-associated factor 4 This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 21 21 21 q22.1 18226630 18287746 - 33043313 33104431 - 31671000 31732118 - 1580863;6480464 10574461;10830953;12477932;12692135;15302935;15489334;16055720;16344560;17081983;17914031;18029348;18550522;19322201;19423540;19913121;20406964;20438785;20628086;21139048;21890473;21906983;22505724;22678362;22939629;22990118;23000965;24332808;24457600;24550385;24821155;8692929 57466 O95104 AB032998;ABBA01057293;ABBA01057294;AF023142;AK025748;AK027017;AK057840;AK308406;AL117417;AL834304;AMYH02037716;AMYH02037717;AP000254;AP000255;BC014921;BC031898;BC043353;BC052286;BC064990;CH471079;DA016102;KC877868;NM_001145444;NM_001145445;NM_020706;XM_005261017;XM_006724035;XM_006724036 AAD09327;AAH14921;AAH43353;AAH52286;AAH64990;BAA86486;CAB55911;CAD38974;EAX09884;EAX09885;EAX09886;EAX09887;EAX09888;NP_001138916;NP_001138917;NP_065757;O95104;XP_005261074;XP_006724098;XP_006724099 Hs.17255 1660439;1698318;1701544;1723095;1778069;1788656;1855157;2116627;2166442;2186916;2218602;5018905;5104900 D11Wox12;D11Wox13;D21S1847;RH102699;RH104405;RH121984;RH18156;RH66120;SFRS15__3662;SHGC-64327;SHGC-87579;SHGC-9340;WI-17989 DKFZp434E098;FLJ23364;KIAA1172;SFRS15;SRA4 CTD-binding SR-like protein rA4;OTTHUMP00000107307;OTTHUMP00000107308;SR-like CTD-associated factor 4;SR-related and CTD-associated factor 4;pre-mRNA splicing SR protein rA4;splicing factor serine alanine 15;splicing factor, arginine/serine-rich 15 APPROVED protein-coding ENSG00000156304 HGNC:19304 11551 616023 REVIEWED 68490 SCAMP2 secretory carrier membrane protein 2 This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. [provided by RefSeq, Jul 2008] 15 15 15 q23-q25 52087212 52115664 - 75137197 75165670 - 74843730 74873365 - 1580863;6480464 12124380;12475951;12477932;14702039;15489334;15840657;16169070;16870614;17255364;17713930;18029348;19276089;20424473;21139048;21295544;21490707;22053931;25015289;9224770;9378760 10066 H3BMN2;H3BN93;H3BPL9;H3BQW2;H3BUB6;H3BV04;O15127 ABBA01060505;ABBA01060506;AC091230;AF005038;AK096376;AK096794;AK291884;AK315516;AMYH02030798;BC001376;BC004385;CH471136;CR456800;NM_005697;XM_006720369 AAB62723;AAH01376;AAH04385;BAF84573;BAG37897;BAG53276;CAG33081;EAW99299;EAW99300;NP_005688;O15127;XP_006720432 Hs.458917 1650254;1766571;2182014 SHGC-149885;STS-R33045;STS-W74766 OTTHUMP00000183476;secretory carrier-associated membrane protein 2 APPROVED protein-coding ENSG00000140497 HGNC:10564 06073 606912 REVIEWED 1343509 SCAMP5 secretory carrier membrane protein 5 INVOLVED IN negative regulation of endocytosis; positive regulation of calcium ion-dependent exocytosis; positive regulation of cytokine secretion; FOUND IN Golgi membrane; integral component of membrane; plasma membrane; INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 3,3',4,4',5-pentachlorobiphenyl; arsenite(3-) 15 15 15 q24.2 52238808 52264809 + 75287876 75313836 + 74995535 75021495 + 737633;6480464 12477932 11050114;11076863;11230166;14702039;15489334;15489336;15840657;16344560;16381901;19234194;19240033;20071347;21163940;21490707;23720494 192683 H3BMY4;H3BNB3;H3BNH7;H3BNW6;H3BP89;H3BS22;H3BT30;H3BTD1;H3BU33;Q8TAC9 ABBA01060511;ABBA01060512;AC015720;AF495715;AK025678;AK056438;AK126940;AK127480;AK301505;AL360203;AL833230;AL834226;AMYH02030807;BC024700;CH471136;CR936761;CS320139;DA810757;NM_001178111;NM_001178112;NM_138967;NR_033660;XM_006720420;XM_006720421;XM_006720422 AAH24700;AAM18052;BAG51709;BAG54404;BAG54511;BAH13498;CAD38904;CAH10607;CAK96044;CAL38295;EAW99277;EAW99278;EAW99279;EAW99280;EAW99281;EAW99282;EAW99283;EAW99284;NP_001171582;NP_001171583;NP_620417;Q8TAC9;XP_006720483;XP_006720484;XP_006720485 Hs.374180 1768326;2134525 A001Y23;RH192 DKFZp686L1799;MGC24969 hSCAMP5;secretory carrier-associated membrane protein 5 protein-coding ENSG00000198794 HGNC:30386 18020 613766 VALIDATED 1345872 SCAMP4 secretory carrier membrane protein 4 Secretory carrier membrane proteins (SCAMPs) are widely distributed integral membrane proteins implicated in membrane trafficking. Most SCAMPs (e.g., SCAMP1; MIM 606911) have N-terminal cytoplasmic NPF (arg-pro-phe) repeats, 4 central transmembrane regions, and a short C-terminal cytoplasmic tail. These SCAMPs likely have a role in endocytosis that is mediated by their NPF repeats. Other SCAMPs, such as SCAMP4, lack the NPF repeats and are therefore unlikely to function in endocytosis (summary by Fernandez-Chacon and Sudhof, 2000 [PubMed 11050114]).[supplied by OMIM, Feb 2011] 19 19 19 p13.3 1839456 1860087 + 1905213 1926012 + 1905374 1926013 + 737633;1580863;6480464;8554872 12477932 11050114;11295240;14702039;15489334;16303743;19322201;20379614;20972266;21139048;21890473;21906983;21963094;22053931;23000965;24250222 113178 C9JWM2;K7EJJ4;Q969E2 ABBA01002692;AC012615;AF109187;AF173896;AK074586;AK074967;AK091166;AK092056;AK307641;AK307700;AL832731;AMYH02035174;BC007958;BC011747;BC016509;BC016685;BC062598;BX647235;CH471139;CQ782937;NM_079834 AAH11747;AAH16509;AAH62598;AAQ13496;AAQ13643;ABM82989;ABM82990;ABM82992;ABM86184;BAC03797;BAC11075;BAC11322;CAF86165;EAW69435;NP_524558;Q969E2 Hs.144980 1850752;5020946;5022200;5022450;5022576;5022651;5037552;5109281 D10S275;D11S2921;D1S1361;D1S1425;D8S2279;L17971;L18426;RH11579 FLJ33847;FLJ90105;SCAMP-4 OTTHUMP00000206198;OTTHUMP00000206199;OTTHUMP00000206200;OTTHUMP00000206201;secretory carrier-associated membrane protein 4 APPROVED protein-coding ENSG00000227500 HGNC:30385 11536 613764 VALIDATED 1318355 SCAND1 SCAN domain containing 1 This gene encodes a SCAN box domain-containing protein. The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc finger proteins. This gene belongs to a family of genes that encode an isolated SCAN domain, but no zinc finger motif. This protein binds to and may regulate the function of the transcription factor myeloid zinc finger 1B. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] 20 20 20 q11.1-q11.23 31289831 31290713 - 34541539 34543281 - 35953617 35955359 - 1580863;6480464 10567577;10747874;10777584;11076863;11256614;11780052;12383503;12444922;12477932;15489334;15489336;16189514;16381901;16540086;18660489;20211142;21139048;21900206;24250222 51282 H0UIA5;P57086;Q9NZG6 ABBA01019133;AF204271;AF207829;AL109965;AMYH02037011;BC000785;BC036709;BC041022;BU190039;BU752664;BU848795;CH471077;CR457188;NM_016558;NM_033630 AAF59839;AAF66832;AAH00785;AAH36709;AAH41022;ABZ92024;CAG33469;CAL37761;CAL38007;EAW76150;EAW76151;EAW76152;NP_057642;NP_361012;P57086 Hs.584909 RAZ1;SDP1 OTTHUMP00000030813;OTTHUMP00000030814;SCAN domain-containing 1;SCAN domain-containing protein 1;SCAN-related protein RAZ1 APPROVED protein-coding ENSG00000171222 HGNC:10566 15298 610416 REVIEWED 6481447 SCAND3P1 SCAN domain containing 3 pseudogene 1 100873886 AL356430;NG_032394 pseudo HGNC:42037 INFERRED 1350423 SCAND2P SCAN domain containing 2 pseudogene ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amiodarone; Aroclor 1254 15 15 15 q25.2 61600218 61611221 + 85174691 85185694 + 84631460 84642463 + 1580863;6480464 10567577;11056053;12036577;12477932;14702039;15489334;17081983;20531441;21832049 54581 Q9GZW5 AA280726;ABBA01052944;AC048382;AC244519;AF229246;AF244812;AI218957;AK022844;AK290489;AL109690;AW341587;BC011547;BC012929;BC063836;BC093922;BC093924;BF115195;CH471101;NR_003654;NR_004859 AAG33966;AAG34567;BAB14268;BAF83178;EAX01938;EAX01939;EAX01940;EAX01941;EAX01942;EAX01943;Q9GZW5 Hs.658114 2109805;2162431;5019070;5022450 D10S275;G44334;SCAND2_9803;SGC30819 SCAND2 APPROVED pseudo HGNC:10567 18021 610417 VALIDATED 1350296 SCAR1 spinocerebellar ataxia, recessive, non-Friedreich type 1 ASSOCIATED WITH Amyotrophic Lateral Sclerosis 4, Juvenile (inferred); Spinocerebellar ataxia, autosomal recessive 1 (inferred) 7240710 11022012 85506 HGNC:23722 602433;606002 1319520 SCARA3 scavenger receptor class A, member 3 This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 8 8 8 p21 26451665 26494373 + 27491100 27534286 + 27633582 27676769 + 6480464;8554872 12477932;15489334;16436673;17207965;18806823;20485444;21855113;21906983;21987572;22138034;22683311;23537707;23728617;24491563;9580669;9747040 51435 Q6AZY7 AB007829;AB007830;ABBA01005590;AC013643;AMYH02017673;AMYH02017674;BC060811;BC075067;BC075068;CH471080;DQ205185;NM_016240;NM_182826;XM_005273527 AAH60811;AAH75067;AAH75068;ABA27098;ADQ32966;BAA86201;BAA86202;EAW63544;EAW63545;NP_057324;NP_878185;Q6AZY7;XP_005273584 Hs.128856 1773565;1798118 D8S500;SCARA3_2473 APC7;CSR;CSR1;MSLR1;MSRL1 OTTHUMP00000225307;OTTHUMP00000225308;cellular stress response gene protein;cellular stress response protein;macrophage scavenger receptor-like 1;scavenger receptor class A member 3 APPROVED protein-coding ENSG00000168077 HGNC:19000 04104 602728 REVIEWED 1606661 SCARA5 scavenger receptor class A, member 5 ENCODES a protein that exhibits ferritin receptor activity (ortholog); INVOLVED IN regulation of blood coagulation; regulation of gene expression; cellular iron ion homeostasis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of plasma membrane (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; elemental selenium 8 8 8 p21.1 26687547 26810041 - 27727399 27850369 - 27869882 27992852 - 6480464;8554872 12477932;12975309;14702039;15489334;16245330;16344560;16407294;19154717;20379614;21029358;21145461;21858178;22138034;23648065 286133 Q6ZMJ2 AA934589;ABBA01005593;ABBA01005594;ABBA01005595;AC069113;AC104997;AK172746;AK301006;AMYH02017680;AMYH02017681;AY337579;AY358150;BC033153;BQ944057;CH471080;DA991818;DA993754;NM_173833 AAH33153;AAQ17470;AAQ88517;BAD18733;BAG62624;EAW63532;EAW63533;EAW63534;NP_776194;Q6ZMJ2 Hs.591833 1676434;1748683;1750511;1757603;1762359;1763097;1766103;1786548;1789176 G65586;RH98499;SHGC-110343;SHGC-111451;SHGC-111819;SHGC-145089;SHGC-146192;SHGC-146833;SHGC-149486 FLJ23907;MGC45780;NET33;Tesr OTTHUMP00000163034;OTTHUMP00000225408;OTTHUMP00000225409;scavenger receptor class A member 5;scavenger receptor class A, member 5 (putative);scavenger receptor hlg;testis expressed scavenger receptor APPROVED protein-coding ENSG00000168079 HGNC:28701 11356 611306 VALIDATED 733391 SCAF1 SR-related CTD-associated factor 1 ENCODES a protein that exhibits protein domain specific binding (inferred); RNA binding (inferred); INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenous acid; atrazine; bis(2-chloroethyl) sulfide 19 19 19 q13.3-q13.4 47014713 47031238 + 50145382 50161906 + 49642125 49658649 + 6480464;8554872 11461075;12477932;14702039;15174051;15302935;16631123;16713569;18854154;19913121;20379614;20628086;21139048;21890473;21906983;21963094;21987572;21988832;22053931;22505724;23000965 58506 M0R232;M0R2L3;M0R3G4;Q9H7N4 ABBA01032913;ABBA01032914;AC011495;AF254411;AK024444;AMYH02036324;AMYH02036325;BC011662;BC018398;BC023628;BC053992;BQ896877;CH471177;NM_021228;XM_005259122 AAF87552;AAH11662;AAH18398;AAH53992;BAB15734;EAW52508;EAW52509;NP_067051;Q9H7N4;XP_005259179 Hs.103521 1698890 RH103013 FLJ00034;SCAF;SRA1 SR-related and CTD-associated factor 1;SR-related-CTD-associated factor;ctd-binding sr-like ra1;serine arginine-rich pre-mRNA splicing factor SR-A1;splicing factor, arginine/serine-rich 19 protein-coding ENSG00000126461 HGNC:30403 11604 VALIDATED 1319619 SCARF1 scavenger receptor class F, member 1 The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 17 17 17 p13.3 1552503 1564397 - 1537152 1549083 - 1633858 1645789 - 1580863;6480464;8554872 10511292;11351612;11978792;12154095;12477932;15371419;15489334;15894273;17499247;17586471;17928461;18078691;18272814;19696406;20101615;20338659;20606164;20686127;21190681;22279061;8590280;9395444 8578 A8K6Z5;I3L4R9;Q14162 AB052946;AB052947;AB052948;AB052949;AB052950;ABBA01054669;AC130343;AK291810;AK298737;AK308904;AK310174;AK311370;AMYH02032747;AMYH02032748;AW263037;BC039735;CA434049;CH471108;D63483;D86864;DC429327;NM_003693;NM_145350;NR_028075;NR_102409 AAH39735;BAA09770;BAA24070;BAC02692;BAC02693;BAC02694;BAC02695;BAC02696;BAF84499;BAG60884;EAW90596;EAW90597;EAW90598;EAW90599;EAW90600;NP_003684;NP_663325;Q14162 Hs.647430 1685748;1847870;2182446;5022200;5022578;5022651 D11S2921;D17S1533;D1S1423;L18426;RH41938;STS-T96691 KIAA0149;MGC47738;SREC;SREC-I;SREC1 OTTHUMP00000115659;acetyl LDL receptor;endothelial cells scavenger receptor;scavenger receptor class F member 1;scavenger receptor expressed by endothelial cells;scavenger receptor expressed by endothelial cells 1 APPROVED protein-coding ENSG00000074660 HGNC:16820 06386 607873 REVIEWED 1314385 SCARF2 scavenger receptor class F, member 2 The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 4265595 4278869 - 20778874 20792146 - 20424584 20437859 - 1580863;6480464;8699517;8554872;7240710 12154095;12477932;15489334;17474147;20887961;23000965 91179 Q96GP6 AB024433;AB052951;ABBA01015456;AC007731;AF088043;AF522196;AMYH02038076;AW301146;BC000584;BC009326;CH471176;NG_031868;NM_153334;NM_182895;XM_006724364 AAH00584;AAH09326;AAI72421;AAN45861;BAC53753;BAD93345;EAX02965;EAX02966;NP_699165;NP_878315;Q96GP6;XP_006724427 Hs.474251 1697520;1798124 RH102264;SCARF2_2110 NSR1;SREC-II;SREC2;SRECRP-1;VDEGS OTTHUMP00000198480;OTTHUMP00000198481;scavenger receptor class F member 2;scavenger receptor expressed by endothelial cells 2 protein APPROVED protein-coding ENSG00000244486 HGNC:19869 15299 600920;613619 REVIEWED 1602765 SCARNA1 small Cajal body-specific RNA 1 ASSOCIATED WITH Melanoma (inferred) 1 1 1 p35.3 26556539 26556704 + 28160912 28161077 + 27834401 27834566 + 8554872 677774 ABBA01034995;AJ609484;AL020997;AMYH02000609;NR_002997 Hs.689694 ACA35 ncrna HGNC:32555 PROVISIONAL 1604827 SCAP SREBF chaperone This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 47393823 47458772 - 47455184 47517603 - 47413694 47476113 - 1581819;2317203;5490977;6480464;8554872 16741953;19933148;20973890 10570913;10570919;10896675;11726962;11726974;11969205;12168954;12202038;12242332;12477932;12482938;12842885;14702039;15489334;15782218;16303743;16344560;16466730;16549805;16751776;17043353;17383658;17570245;17963605;18195716;18660489;18835813;19116028;19706601;19740467;19878569;19948975;20031551;20111910;20186155;21139048;21906983;21963094;22690709;23440422;23454642;23564452;24146768;24217618;24250222;24371177;24478315;8724849;8898195;9242699;9642295 22937 C9JFY0;C9JQ35;D6RA39;F8W921;F8W9W7;F8WDP3;F8WEH8;Q12770 ABBA01024692;ABBA01024693;ABBA01024694;AC099778;AK027402;AK074312;AK075528;AK091005;AK291484;AK300311;AMYH02006690;AMYH02006691;AMYH02006692;AMYH02006693;AMYH02006694;AU152077;BC020987;BC027207;BI160250;CH471055;D83782;NM_012235;XM_005264967;XM_005264968;XM_005264969;XM_005264970;XM_005264971;XM_005264972;XM_006713034 AAH20987;AAH27207;BAA12111;BAB55088;BAC11673;BAF84173;BAH13256;EAW64825;EAW64826;NP_036367;Q12770;XP_005265024;XP_005265025;XP_005265026;XP_005265027;XP_005265028;XP_005265029;XP_006713097 Hs.531789 1664405;1684066;2108903;2148360;2153571 RH47493;RH91891;SCAP_9290;SHGC-76917;STS-D83782 KIAA0199 OTTHUMP00000155199;SREBP cleavage-activating protein;sterol regulatory element binding protein cleavage-activating protein;sterol regulatory element-binding protein cleavage-activating protein APPROVED protein-coding ENSG00000114650 HGNC:30634 03300 601510 REVIEWED 732465 SCARB2 scavenger receptor class B, member 2 The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] 4 4 4 q21.1 74380030 74435161 - 77079890 77135052 - 76158737 76213899 - 1580863;6480464;7240710;8554872;8699517 11840567;12107410;12356916;12370188;12477932;12620969;12628346;12754519;1374238;14570588;14702039;15469932;15489334;16368683;16542748;17110915;17215280;17255364;17673517;17897319;18022370;18308289;18996102;19056867;19543282;19847901;19913121;19933215;19946888;20032583;20237496;20602615;20628086;21139048;21389126;21674799;21738487;21782476;21796727;21985131;22032306;22050460;22219187;22223122;22272359;22438546;22465138;22537104;22884962;22939629;23302872;23325613;23408458;23451246;23473716;23874603;23959904;24250222;24389070;24816145;7509809;7539776;9478926 950 D6RDG0;Q14108 ABBA01063357;AC034139;AC110795;AK022432;AK056001;AK296519;AK313016;AMYH02009509;BC021892;BC035111;BQ924546;BT006939;BX538257;CA395147;CH471057;D12676;NG_012054;NM_001204255;NM_005506 AAH21892;AAP35585;AAP36329;ABM84461;ABM84683;BAA02177;BAG35851;BAG59150;EAX05779;EAX05780;EAX05781;NP_001191184;NP_005497;Q14108 Hs.349656 1337487;1646902;1649173;1654652;1662508;1663989;1711134;1735364;1757055;1772437;1798122;2141814;2171242;5022578;5024039;5037552 A007G26;D16S325;D1S1423;D4S2490E;D4S2820;D4S2990;D4S3271;D8S2279;HSC0FA022;SCARB2_2188;SHGC-144424;SHGC-50251;SHGC-50473;SHGC-59239;SHGC-86226;STS-D12676 AMRF;CD36L2;EPM4;HLGP85;LGP85;LIMP II;LIMP-2;LIMPII;SR-BII 85 kDa lysosomal membrane sialoglycoprotein;85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2;CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II);CD36 antigen-like 2;OTTHUMP00000160590;OTTHUMP00000219176;cd36 antigen (collagen type i receptor, thrombospondin receptor)-like 2;lysosome membrane protein 2;lysosome membrane protein II APPROVED protein-coding ENSG00000138760 HGNC:1665 03772 254900;602257 REVIEWED 1602760 SCARNA11 small Cajal body-specific RNA 11 12 12 12 p13.31 8307501 8307637 - 6690639 6690775 - 6581473 6581609 - 677780 ABBA01017645;AC006064;AJ609487;AMYH02025953;NR_003012 Hs.689692 ACA57 ncrna HGNC:32568 PROVISIONAL 1602762 SCARNA12 small Cajal body-specific RNA 12 This gene produces a small nuclear RNA that localizes specifically to Cajal bodies, which are conserved subnuclear organelles that are present in the nucleoplasm. This RNA is processed from an intron of the prohibitin 2 host gene. It includes both an H/ACA box and a C/D box, and is thought to guide the pseudouridylation of residue U46 in the U5 small nuclear RNA. [provided by RefSeq, Jun 2010] 12 12 12 p13.31 8697519 8697788 - 7076500 7076769 - 6967337 6967606 - 6480464 12032087;8723724;9074930 677777 ABBA01017670;AMYH02025958;AY077739;NG_021408;NR_003010;U47924 Hs.689636 2191659 MARC_4161-4162:996679469:1 U89 APPROVED ncrna HGNC:32569 615642 VALIDATED 735633 SCARB1 scavenger receptor class B, member 1 The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 12 12 12 q24.31 124862283 124949187 - 125262174 125348519 - 124777628 124863973 - 1580028;1580003;1600654;1580004;6480464;6484679;6907045;7240710;8554872 14592533;14657200;15967843;16258026;21718801 1076467;10764676;10829064;11196441;11238031;11575708;11792700;11944916;11952809;12016218;12039952;12100619;12119305;12138091;12164779;12207878;12227853;12356718;12417285;12477932;12519372;12555245;12562842;12568179;12651854;12663276;12763030;12788901;12807968;12913001;12966036;12968020;14551195;14566094;14652019;14676281;14701812;14718538;14726519;14967816;15072554;15102890;15166784;15186961;15226391;15342124;15345670;15489334;15492319;15509885;15561721;15576377;15632171;15681296;15749707;15910850;15970294;15979078;16120612;16168958;16185081;16380385;16410457;16476701;16488891;16542392;16574909;16600224;16675450;16770077;16777453;16794223;16816107;16870193;16926440;17105723;17110915;17215280;17240192;17241464;17259591;17311943;17404186;17476110;17507483;17531953;17574123;17618962;17673517;17700364;17784784;17897319;17905649;17957039;18007013;18053692;18057374;18216094;18285332;18373109;18403724;18424859;18477479;18542840;18640393;18641187;18660489;18676680;18757346;18779053;18779054;18781797;18829747;18930459;18981156;19087225;19094442;19136670;19148942;19156545;19158204;19169357;19170196;19179658;19229312;19276229;19489872;19497383;19620049;19625176;19689828;19692168;19718657;19776133;19806217;19828610;19837407;19878569;19913121;19948975;19996318;20031551;20032583;20057170;20060115;20064494;20085651;20156043;20160195;20167577;20186155;20304957;20331378;20379614;20442857;20551015;20602615;20628086;20629037;20677014;20686565;20713650;20718868;20724701;20734064;20835684;20844007;20855565;20949066;20962076;21131975;21139048;21145461;21226579;21289254;21454568;21454587;21480869;21485189;21512283;21525007;21531995;21551950;21729881;21890473;21906983;21917726;21963094;21987572;22025344;22097902;22178419;22182283;22262054;22268729;22390933;22425645;22442701;22503545;22579005;22583964;22614118;22628436;22767607;23000965;23023567;23029167;23041084;23091409;23118302;23133640;23175350;23192982;23402987;23403740;23510561;23562302;23698298;23711372;23812625;23843895;23852455;23919842;24097068;24151447;24257605;24854385;4838888;7539776;7689561;9211901 949 B3KW46;B4DZ71;B4E3I1;B7ZKQ9;F5H4X0;F5H5E8;Q8WTV0 AB209436;ABBA01060364;ABBA01060365;ABBA01060366;ABBA01060367;ABBA01060368;AC073593;AC126309;AF254409;AF515445;AK124112;AK302779;AK304730;AMYH02027478;BC022087;BC034322;BC080647;BC093732;BC112037;BC143319;BG770204;CA428516;CH471054;NG_028199;NM_001082959;NM_005505;Z22555 AAF91347;AAH80647;AAH93732;AAI12038;AAI43320;AAQ08185;ABM83763;ABM87082;BAD92673;BAG54008;BAG63983;BAG65493;CAA80277;EAW98458;EAW98459;EAW98460;EAW98461;EAW98462;NP_001076428;NP_005496;Q8WTV0 Hs.731377 1646200;1707372;1720761;1746365;1750605;1798120;2126336;2128696;2164826;2179742;5092878;5118444;5120267;5494108 A009B29;D11S3316;G32387;G59354;G64578;GDB:228077;RH11185;RH46525;RH64878;SCARB1_2043;SHGC-111902;SHGC-84469;UniSTS:66150;fe49f02.x1 CD36L1;CLA-1;CLA1;HDLQTL6;MGC138242;SR-BI;SRB1 CD36 and LIMPII analogous 1;CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1;CD36 antigen-like 1;OTTHUMP00000239001;OTTHUMP00000239002;OTTHUMP00000239003;OTTHUMP00000239004;OTTHUMP00000239005;collagen type I receptor, thrombospondin receptor-like 1;scavenger receptor class B member 1;scavenger receptor class B type 1;scavenger receptor class B type III 2289510;2289628;2289630;2289632 BW451_H;BW500_H;BW501_H;BW502_H APPROVED protein-coding ENSG00000073060 HGNC:1664 03024 601040;610762 REVIEWED 1602771 SCARNA13 small Cajal body-specific RNA 13 INTERACTS WITH (+)-catechin 14 14 14 q32.12 76055380 76055654 - 95999692 95999966 - 95533355 95533629 - 12409454;16601202 677768 ABBA01048602;AF492209;AL133467;AMYH02029798;NG_021217;NG_033103;NR_003002 Hs.448753 1685726;1685728 RH93740;RH98225 U93 ncrna ENSG00000252481 HGNC:32570 VALIDATED 68495 SCAMP3 secretory carrier membrane protein 3 This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] 1 1 1 q21 128299045 128305446 - 155225770 155232176 - 155255979 155262428 - 1580863;6480464;8554872 10777571;12477932;15144186;15489334;15592455;16105885;16341674;17081983;17255364;18781797;19158374;19438519;20972266;21102463;21139048;21252943;21832049;21890473;21903422;21906983;21951651;21963094;21987572;22053931;22190034;22268729;22505724;22939629;23000965;23418353;23464991;23874603;24250222;24332808;24654937;25015289;9224770;9331372;9378760;9658162 10067 O14828;Q6FHJ5 ABBA01016711;AF005039;AF023268;AL713999;AMYH02001942;BC000161;BC005135;BC010505;BM790077;BU193466;CH471121;CR541757;NM_005698;NM_052837;XM_006711105;XM_006711106;XM_006711107;XM_006726206;XM_006726207;XM_006726208 AAB62724;AAC51821;AAH00161;AAH05135;AAH10505;CAG46557;EAW53090;EAW53091;EAW53092;EAW53093;NP_005689;NP_443069;O14828;XP_006711168;XP_006711169;XP_006711170;XP_006726269;XP_006726270;XP_006726271 Hs.200600 1674284;1678651;1855394;2107939;2175184;2217938 A004W05;CLK2_8263;D1S3427;D7S2838;RH69036;SCAMP3_2726 C1orf3 OTTHUMP00000034066;OTTHUMP00000034067;propin 1;secretory carrier-associated membrane protein 3 APPROVED protein-coding ENSG00000116521 HGNC:10565 06074 606913 REVIEWED 1602761 SCARNA15 small Cajal body-specific RNA 15 INTERACTS WITH benzo[a]pyrene diol epoxide I 15 15 15 q25.2 61155809 61155935 - 83424697 83424823 + 82755945 82756071 + 6480464 19026782 677778 ABBA01029428;AC105339;AJ609485;AMYH02030914;NR_003011 Hs.743895 ACA45 ncrna ENSG00000277864 HGNC:32572 612675 PROVISIONAL 1602770 SCARNA17 small Cajal body-specific RNA 17 INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cyclosporin A 18 18 18 q21.1 44197060 44197480 + 47340393 47340813 + 49814023 49814443 + 6480464 12032087;15556860 677769 ABBA01018665;AC090227;AMYH02034701;AY077741;BK005569;NR_003003 2131314 SHGC-57883 U91 ncrna ENSG00000267322 HGNC:32574 615645 PROVISIONAL 1602774 SCARNA18 small Cajal body-specific RNA 18 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SCARNA18, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 5 5 5 q14.2 78264627 78264760 - 82360023 82360156 - 83064204 83064337 - 16361266 677765 ABBA01062079;AC022416;AM055742;AMYH02011710;NR_003139 Hs.693283 U109 APPROVED ncrna HGNC:32559 611329 PROVISIONAL 1602538 SCARNA10 small Cajal body-specific RNA 10 12 12 12 p13.31 8236248 8236577 + 6619388 6619717 + 6510222 6510551 + 11157760 692148 ABBA01017642;AC006064;AF308283;AMYH02025952;NR_004387 2124947 D12S229 U85 ncrna HGNC:32567 615639 PROVISIONAL 1602537 SCARNA14 small Cajal body-specific RNA 14 15 15 15 q22.31 43529355 43529491 - 66639544 66639680 - 66347206 66347342 - 14602913 692149 ABBA01038828;AC055855;AMYH02030644;AY349601;NR_004388 U100 ncrna HGNC:32571 PROVISIONAL 1345518 SCAPER S-phase cyclin A-associated protein in the ER ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 15 15 15 q24 53566747 54107576 - 76640526 77197796 - 76348185 76905455 - 1580863;6480464;8554872 10819331;12421765;12477932;14702039;15161980;15840729;17553665;17698606;18245951;19596686;21139048;22505724;24163370 49855 H3BPB0;H3BPM0;H3BQ61;H3BQF3;H3BR40;H3BS25;H3BT27;H3BTL8;H3BTY2;H3BU24;Q6NSF1;Q9BY12 AB040887;ABBA01060550;ABBA01060551;ABBA01060552;ABBA01060553;ABBA01060554;ABBA01060555;AC015798;AC016343;AC027243;AC051643;AC090179;AC090751;AF119814;AF242528;AK025663;AK056095;AK056515;AK125919;AK128091;AL137612;AMYH02030833;AMYH02030834;AMYH02030835;AMYH02030836;AMYH02030837;AMYH02030838;AMYH02030839;AMYH02030840;AMYH02030841;BC015212;BC070197;BC107415;BT006762;BX647285;CH471136;NM_001145923;NM_020843;XM_005254417;XM_005254419 AAG47945;AAH15212;AAH70197;AAI07416;AAI56878;AAK29205;AAP35408;BAA95978;CAB70841;EAW99217;EAW99218;EAW99219;NP_001139395;NP_065894;Q9BY12;XP_005254474;XP_005254476 Hs.458986 1334614;1659782;1680315;1684262;1709564;1714009;1750105;1752643;1762375;1771640;1773422;1783164;2115351;2138700;2156290;2165028;2165030;2181298;2185452;7187588 A004S31;A006F29;D15S114;D15S825;D15S833;G17864;G20765;G30961;RH119435;RH91340;RH93976;SHGC-106495;SHGC-111446;SHGC-112341;SHGC-146203;SHGC-37692;SHGC-81874;WI-21800;Z94581 FLJ31533;FLJ31953;FLJ46212;KIAA1454;MSTP063;ZNF291;Zfp291 S phase cyclin A-associated protein in the ER;S phase cyclin A-associated protein in the endoplasmic reticulum;zinc finger protein 291 protein-coding ENSG00000140386 HGNC:13081 11704 611611 VALIDATED 1602773 SCARNA2 small Cajal body-specific RNA 2 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 1 1 1 q13.1 107912195 107912614 + 109642815 109643234 + 109100193 109100612 + 6480464 12477932;15556860;19906720 677766 ABBA01068371;AL356488;AMYH02001704;BC071822;BK005568;NR_003023 Hs.550815 HBII-382;mgU2-25/61 ncrna ENSG00000270066;ENSG00000278249 HGNC:32558 PROVISIONAL 1602937 SCARNA20 small Cajal body-specific RNA 20 17 17 17 q23.2 57409405 57409534 - 58308877 58309006 - 60231516 60231645 - 16373490 677681 ABBA01035415;AC104763;AMYH02033721;NR_002999 ACA66 ncrna HGNC:32578 PROVISIONAL 1602775 SCARNA21 small Cajal body-specific RNA 21 ASSOCIATED WITH Melanoma (inferred) 17 17 17 p13.1 7836993 7837130 + 7809441 7809578 + 7906123 7906260 + 8554872 16373490 677763 ABBA01054890;AC104581;AMYH02032918;NR_003000 ACA68 ncrna HGNC:32579 PROVISIONAL 1602766 SCARNA23 small Cajal body-specific RNA 23 X X X p22.11 28885430 28885559 + 24762558 24762687 + 24744441 24744570 + 12032087;15199136;20227365 677773 ABBA01072355;AC079375;AJ609482;AMYH02039054;NG_016798;NR_003007 Hs.689695 ACA12 ncrna HGNC:32581 VALIDATED 1602769 SCARNA22 small Cajal body-specific RNA 22 4 4 4 p16.3 1888591 1888715 + 1976363 1976487 + 1974636 1974760 + 22751105 677770 ABBA01029524;AJ609470;AL132868;AMYH02008596;NG_009269;NR_003004 Hs.676951 ACA11 ncrna HGNC:32580 PROVISIONAL 1642104 SCARNA27 small Cajal body-specific RNA 27 6 6 6 p24.3 9315934 9316059 - 8086641 8086766 - 8086408 8086533 - 16990247 100124533 ABBA01022053;AL451187;AMYH02013066;NR_003703 ncrna HGNC:33614 PROVISIONAL 1602938 SCARNA3 small Cajal body-specific RNA 3 1 1 1 q25.1 149048249 149048392 - 175937533 175937676 - 175968397 175968540 - 11387227 677679 ABBA01027866;AL590723;AMYH02002190;BK000438;NR_002998 HBI-100 ncrna HGNC:32577 PROVISIONAL 1602764 SCARNA5 small Cajal body-specific RNA 5 2 2 2 q37.1 227905889 227906166 + 234184372 234184649 + 233275726 233276003 + 12032087;12119114;12912925;17435756;20570966;21102463;22412388;22936669 677775 ABBA01001947;AC013726;AMYH02006003;AY077737;NG_023038;NR_003008 Hs.663619 U87 ncrna HGNC:32561 615640 VALIDATED 1602767 SCARNA6 small Cajal body-specific RNA 6 2 2 2 q37.1 227918838 227919103 + 234197322 234197587 + 233288676 233288941 + 12032087 677772 ABBA01001947;AC013726;AMYH02006003;AY077738;NG_023038;NR_003006 Hs.689637 U88 ncrna HGNC:32562 615641 VALIDATED 1602772 SCARNA7 small Cajal body-specific RNA 7 3 3 3 q25.22 158654708 158655037 - 160232695 160233024 - 160514907 160515236 - 12032087 677767 ABBA01058796;AC078868;AMYH02008020;AY077740;NR_003001 Hs.675953 U90 ncrna HGNC:32563 615644 PROVISIONAL 1602763 SCARNA8 small Cajal body-specific RNA 8 9 9 9 p22.1 18989849 18989979 - 19063654 19063784 - 19063656 19063786 - 12032087;16601202 677776 ABBA01065222;AL591206;AMYH02019256;AY077742;NR_003009 Hs.689635 U92 ncrna HGNC:32564 615646 PROVISIONAL 2293599 SCARNA9L small Cajal body-specific RNA 9-like INTERACTS WITH bisphenol A X X X p22.12 24278718 24278867 - 20154184 20154531 - 20136066 20136413 - 6480464 16990247 100158262 AL732366;AMYH02038984;NR_023358 FLJ14503 APPROVED ncrna HGNC:33559 PROVISIONAL 1602604 SCARNA9 small Cajal body-specific RNA 9 INTERACTS WITH 17beta-estradiol; cadmium atom; paracetamol 11 11 11 q21 90746130 90746484 + 93454680 93455032 + 93721514 93721866 + 6480464 12032087;15556860 619383 ABBA01040043;AMYH02025366;AP003499;AV737883;BK005567;C19000;EH348052;NR_002569 Hs.660668 Z32;mgU2-19/30 ncrna HGNC:32566 VALIDATED 1350717 SCASI spinocerebellar ataxia with saccadic intrusions ASSOCIATED WITH Spinocerebellar ataxia, autosomal recessive 4 (inferred) 7240710 11960835 260415 HGNC:19186 607317 1351812 SCCD Schnyder crystalline corneal dystrophy ASSOCIATED WITH Corneal Dystrophy, Crystalline, of Schnyder (inferred) 7240710 7801 HGNC:14431 121800 1606286 SCCPDH saccharopine dehydrogenase (putative) ENCODES a protein that exhibits oxidoreductase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); FOUND IN lipid particle; membrane; midbody; INTERACTS WITH 5-fluorouracil; aflatoxin B1; all-trans-retinoic acid 1 1 1 q44 220179744 220223684 + 246887378 246931439 + 246724076 246768137 + 6480464 10810093;12477932;14702039;14741744;15166316;15489334;16303743;16341674;16710414;17207965;19946888;20877624;21139048;21890473;21963094;21987572;22505724;22990118;23000965 51097 Q8NBX0 ABBA01031767;ABBA01031768;AF151807;AK075178;AL591848;AMYH02003119;AMYH02003120;AW515488;BC026185;BG258610;BM786495;CH471148;CQ783258;NM_016002 AAD34044;AAH26185;ADQ32427;BAC11453;CAF86462;EAW77161;NP_057086;Q8NBX0 Hs.498397 1335516;1688863;1762827;1766825;1771605;1847486;2129162;2131282;2169563;5092754 A005Y30;D1S2836;G32308;RH66228;RH66307;RH66503;RH69726;SHGC-146601;SHGC-152198;SHGC-76638 CGI-49;FLJ43187;NET11;RP11-439E19.2 OTTHUMP00000038085;probable saccharopine dehydrogenase;saccharopine dehydrogenase-like oxidoreductase protein-coding ENSG00000143653 HGNC:24275 13038 VALIDATED 1344605 SCDP1 stearoyl-CoA desaturase (delta-9-desaturase) pseudogene 1 17 17 17 p11.2 21849004 21854368 - 20687563 20692927 + 20784250 20789614 + 10229681 645313 ABBA01050452;AC126365;AMYH02033192;NG_016706 1682259;2153070 RH11040;STS-S70284 SCDP APPROVED pseudo HGNC:10572 INFERRED 1349660 SCD5 stearoyl-CoA desaturase 5 Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008] 4 4 4 q21.22 80841716 81011030 - 83550690 83720010 - 82629537 82798857 - 737633;6480464;8554872 12477932 12727354;12815040;15610069;15907797;16712791;16806233;17468887;19913121;20379614;20628086;20634891;21139048;21890473;21906983;22046234;22745828;23867797;24816145 79966 Q86SK9;Q86UC8;Q9BSN4 ABBA01063439;ABBA01063440;ABBA01063441;ABBA01063442;ABBA01063443;ABBA01063444;AC073413;AF389338;AK024685;AL831891;AMYH02009603;AMYH02009604;AMYH02009605;AMYH02009606;BC004936;BC048971;BC137429;BC137432;CB155881;CH471057;DB479400;DR763368;KF457785;NM_001037582;NM_024906 AAH04936;AAH48971;AAI37430;AAI37433;AAP31443;AAY40977;BAB14961;CAD38567;EAX05902;EAX05903;EAX05904;EAX05905;NP_001032671;NP_079182;Q86SK9 Hs.379191 1649589;1652256;1652258;1657263;1662137;1671532;1720365;1721805;1770351;1853995;1856547;2118028;2127752;2129107;2144744;2150874;2169066;2190797;5037552;5094260 A001Y29;D4S1119;D4S1199;D4S2402;D4S2886;D4S3160;D8S2279;G19790;G33585;G54671;G59924;RH123934;RPS26;SHGC-24770;SHGC-51006;SHGC-51070;SHGC-58090;SHGC-59596;SHGC-67695;WI-19688 ACOD4;FADS4;FLJ21032;HSCD5;SCD2;SCD4 OTTHUMP00000160803;OTTHUMP00000160804;acyl-CoA-desaturase 4;stearoyl-CoA 9-desaturase;stearoyl-CoA desaturase 4 APPROVED protein-coding ENSG00000145284 HGNC:21088 09756 608370 VALIDATED 735301 SCD stearoyl-CoA desaturase (delta-9-desaturase) This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Feb 2012] 10 10 10 q24.31 95844653 95862464 + 102106772 102124588 + 100347015 100364831 + 1304415;1580863;6480464;7240710 12896875 10229681;10922050;11181995;11397803;11415448;11677241;12061775;12401889;12477932;14683458;14967817;14967823;15164054;15489334;15609334;15610069;15662557;15708362;15851470;15855323;15907797;16213227;16385451;16723740;17614770;17636091;17852835;18029348;18030445;18286258;18340007;18499418;18660489;18697866;18781797;18813799;18832746;18952834;19130493;19154947;19322201;19478146;19710915;19913121;19946888;19953087;20032470;20395685;20565855;20579763;20599700;20628086;20639865;20713121;21045174;21060977;21139048;21148;21179554;21331774;21544602;21658928;21674150;21775116;21831035;21832049;21886157;21890473;21898701;21906983;21963094;21987572;22026420;22046234;22049297;22082156;22209225;22457791;22505724;22819528;22946088;23000965;23013158;23015656;23019225;23139775;23208590;23221600;23331615;23362303;23613812;23633458;23934750;24135379;24309934;24356954;24357007;24368438;24816145;6102994;7909540;8125298;9362069 6319 O00767;Q59GX7 AB032261;AB208982;ABBA01063228;AF097514;AF109362;AF320307;AI740935;AK222862;AK312312;AL139819;AMYH02023652;AMYH02023653;BC005807;BC062303;BI827092;BM546583;BU940035;CD245516;CF454075;CH471066;NM_005063;S70284;Y13647 AAB30631;AAD29870;AAH05807;AAH62303;AAK54510;AAQ13510;BAA93510;BAD92219;BAD96582;BAG35237;CAA73998;EAW49827;EAW49828;EAW49829;EAW49830;NP_005054;O00767 Hs.558396 1652590;1653006;1682259;1850090;2150488;2153070;2153503;2167447;2176711;2176713 A002P35;D10S1355E;D10S2199;IB293;RH11040;RH11163;RH11186;RH45424;SHGC-34978;STS-S70284 FADS5;MSTP008;SCD1;SCDOS OTTHUMP00000020279;OTTHUMP00000020280;acyl-CoA desaturase;delta(9)-desaturase;delta-9 desaturase;delta-9-desaturase;fatty acid desaturase;predicted protein of HQ0998;stearoyl-CoA desaturase opposite strand APPROVED protein-coding ENSG00000099194 HGNC:10571 04941 212140;604031 VALIDATED 1350281 SCFD1 sec1 family domain containing 1 ENCODES a protein that exhibits syntaxin binding (ortholog); INVOLVED IN response to toxic substance; cell morphogenesis (ortholog); phagocytosis (ortholog); ASSOCIATED WITH Reperfusion Injury (ortholog); FOUND IN cis-Golgi network; Golgi transport complex (ortholog); Golgi-associated vesicle (ortholog); INTERACTS WITH caffeine; cyclosporin A; paracetamol 14 14 14 q12 10957301 11070796 + 31091460 31205034 + 30622254 30735828 + 1580863;633771;6480464;8554872 9195952 10048485;10903204;11329013;11927603;12477932;12506202;12665801;14565970;14702039;15029241;15302935;15489334;15649705;16169070;16344560;17400507;18029348;18187620;19176879;19536132;20379614;20562859;21139048;21145461;21890473;21906983;22053931;22939629;23125841;23383273;23667531;24816145;25027693;8125298 23256 B7Z5N7;B7Z738;G3V2M8;G3V363;G3V3K9;G3V4I1;G3V551;G3V5E2;G3V5F3;H0YIZ7;H0YJS6;H0YJY1;J3KNG4;Q8WVM8 AB020724;ABBA01061403;AF067205;AF086916;AF092139;AF110646;AF319958;AK022127;AK222820;AK290410;AK297873;AK298622;AK299222;AK301406;AK307960;AK308587;AK316212;AL121852;AMYH02028937;AMYH02028938;AMYH02028939;AMYH02028940;AMYH02028941;AMYH02028942;BC017734;BG028643;BG212062;BU198450;BX325898;CA454055;CD697934;CH471078;DA151789;DB105324;DN993082;NM_001257376;NM_001283031;NM_001283032;NM_001283033;NM_016106;NM_182835;XM_005267469;XR_429299 AAC17907;AAD40381;AAD48586;AAG50273;AAH17734;AAP97146;BAA74940;BAD96540;BAF83099;BAH12683;BAH12830;BAH12973;BAH13474;BAH14583;EAW65967;EAW65968;NP_001244305;NP_001269960;NP_001269961;NP_001269962;NP_057190;NP_878255;Q8WVM8;XP_005267526 Hs.369168 1649015;1671800;1672464;1709956;1710868;1749291;1753401;2129241;2144867;5015404;5024413 L17705;L17877;RH44375;RH44525;RH46244;RH68476;SHGC-107171;SHGC-110964;SHGC-24139;SHGC-82246;SHGC-84212 C14orf163;KIAA0917;RA410;SLY1;SLY1P;STXBP1L2 OTTHUMP00000028197;OTTHUMP00000178786;OTTHUMP00000244059;OTTHUMP00000244066;SLY1 homolog;sec1 family domain-containing protein 1;syntaxin-binding protein 1-like 2;vesicle transport-related protein protein-coding ENSG00000092108 HGNC:20726 10210 VALIDATED 1602759 SCARNA16 small Cajal body-specific RNA 16 17 17 17 q25.2 71680172 71680358 + 75085389 75085575 + 77089307 77089493 + 677781 ABBA01028720;AC015815;AJ609486;AMYH02034028;NR_003013 Hs.720923 ACA47 ncrna ENSG00000275143 HGNC:32573 PROVISIONAL 1348082 SCFD2 sec1 family domain containing 2 INVOLVED IN protein transport (inferred); vesicle docking involved in exocytosis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH acetylsalicylic acid; aflatoxin B1; atrazine 4 4 4 q12 51235702 51729727 - 53738797 54232242 - 52872982 53366075 - 737633;1580863;6480464;8554872 12477932 14702039;15489334;20360068;20379614;20395239;21139048;21890473;21906983;22797925;24654937 152579 D6RCK6;Q8WU76 AB074276;ABBA01003383;ABBA01003384;ABBA01003385;ABBA01003386;ABBA01003387;ABBA01003388;ABBA01003389;ABBA01003390;ABBA01003391;AC023107;AC023154;AC079995;AC098821;AC108153;AK024713;AK096833;AMYH02009210;AMYH02009211;AMYH02009212;AMYH02009213;AMYH02009214;AMYH02009215;AMYH02009216;AMYH02009217;AY299407;BC012458;BC021137;BC032453;CH471057;NM_152540 AAH12458;AAH21137;AAH32453;AAP57259;ACT64508;ACT64509;BAC04872;EAX05442;EAX05443;NP_689753;Q8WU76 Hs.302287 1664813;1668137;1695356;1695448;1717921;1748837;1749901;1764509;1779672;1784930;1784984;1785128;2150638;2155544 D4S1036;D4S971;G41945;RH122787;SHGC-100863;SHGC-110508;SHGC-111626;SHGC-112148;SHGC-148110;SHGC-153642;SHGC-155524;SHGC-56914;SHGC-68272;SHGC-68563 FLJ21060;FLJ39514;STXBP1L1 OTTHUMP00000218715;OTTHUMP00000218755;sec1 family domain-containing protein 2;syntaxin binding protein 1-like 1;syntaxin-binding protein 1-like 1 protein-coding ENSG00000184178 HGNC:30676 15300 VALIDATED 734327 SCG2 secretogranin II The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. [provided by RefSeq, Jul 2008] 2 2 2 q35-q36 218227485 218232948 - 224461658 224467217 - 223596940 223602499 - 1580863;6480464;8554872 10619397;10648883;10678772;11853870;12477932;12788858;1425774;14970115;15489334;15572199;15815621;16101435;16344560;16713569;16807684;17474147;17584765;18239671;18448176;18549351;18721831;20200953;2053134;20550951;21046454;21145461;21803620;21988832;22095909;22118674;22217803;22655045;23081990;23423580;23918206;2745426;8617499;8825061;9100282;9473216;9654353;9709974 7857 C9JDT0;C9JQI2;P13521 ABBA01023795;AC012512;AF106540;AF145702;AK298828;AK312452;AMYH02005875;BC022509;CH471063;DA271642;M25756;NG_027998;NM_003469 AAA36607;AAH22509;AAY24243;BAG35359;BAG60958;EAW70811;NP_003460;P13521 Hs.516726 1796722;2113924;2116878;2126184;2166708 RH17683;RH35885;SCG2;SCG2_390;SHGC-12518 CHGC;EM66;SN;SgII OTTHUMP00000164218;OTTHUMP00000203781;OTTHUMP00000203782;chromogranin-C;secretogranin 2;secretogranin-2;secretoneurin APPROVED protein-coding ENSG00000171951 HGNC:10575 06762 118930 REVIEWED 1602768 SCARNA4 small Cajal body-specific RNA 4 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q22 128968658 128968786 - 155895749 155895877 - 155925958 155926086 - 8554872 12032087;12912925 677771 ABBA01016680;AJ609483;AL355388;AMYH02001956;NR_003005 Hs.678903 1715293 RH120477 ACA26 ncrna HGNC:32560 PROVISIONAL 5687803 SCGB1B2P secretoglobin, family 1B, member 2, pseudogene 19 19 19 q13.11 31780046 31781004 - 35067638 35068596 - 34576733 34577691 - 22155607 643719 ABBA01018723;AC022143;AMYH02035966;CA429783;CD173361;CS300803;HG510652;NR_027620 CAK32467 Hs.686754 1715443 RH120860 SCGB4A1P pseudo ENSG00000268751 HGNC:20741 PREDICTED 9587534 SCGB1C2 secretoglobin, family 1C, member 2 FOUND IN extracellular region (inferred) 17 17 p 87947 89367 + 132566 139067 + 11181995;9847074 653486 Q8TD33 ABBA01015250;AC129894;AC240565;CH471108;NM_001097610;XM_005277933;XM_006725250 EAW90678;NP_001091079;XP_005277990;XP_006725313 Hs.127059 secretoglobin, family 1C, member 1-like protein-coding ENSG00000268320 HGNC:51242 VALIDATED 1351548 SCGB1C1 secretoglobin, family 1C, member 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog) 17 11 11 p15.5 87947 89440 + 188101 194575 + 188101 194575 + 6480464;8554872 11076863;12406855;12477932;15489334;15489336;16381901;1915264;22155607;24026423 147199 Q8TD33 ABBA01011167;AC069287;AMYH02024127;AY026938;BC069287;BC111427;BC111433;BK000201;NM_145651;XM_005252804 AAH69287;AAI11428;AAI11434;AAK08972;CAL37525;CAL38648;CAL38680;DAA00358;NP_663626;Q8TD33;XP_005252861 Hs.127059 5492487;5492795 UniSTS:481246;UniSTS:482622 RYD5 OTTHUMP00000230134;ligand binding protein RYD5;secretoglobin RYD5;secretoglobin family 1C member 1 protein-coding ENSG00000188076 HGNC:18394 18024 610176 VALIDATED 1351140 SCGB1D1 secretoglobin, family 1D, member 1 The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008] 11 11 11 q13 59287151 59290450 + 61957710 61961009 + 62190238 62193537 + 1580863;6480464;8554872 10066439;12477932;15489334;22155607;9720917 10648 O95968 ABBA01003219;AJ224171;AMYH02024887;AP002793;AP003306;BC062693;BC069170;BC069289;CH471076;NM_006552 AAH62693;AAH69170;AAH69289;CAA11863;EAW74007;NP_006543;O95968 Hs.202686 LIPA;LPHA;LPNA;MGC71958 OTTHUMP00000236062;lipophilin A (uteroglobin family member);lipophilin-A;prostatein-like lipophilin A;secretoglobin family 1D member 1 APPROVED protein-coding ENSG00000168515 HGNC:18395 18025 615060 REVIEWED 1312935 SCEL sciellin The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008] 13 13 13 q22 59007927 59117523 + 78109809 78219398 + 77535674 77645263 + 1580863;6480464;8554872 11112355;12477932;1377656;14632196;15274303;18029348;19056867;19211270;21832049;8125298;8889548;9813070 8796 F2Z2X8;O95171 ABBA01021662;ABBA01021663;ABBA01021664;AF045941;AK025320;AK222720;AK301659;AL137140;AMYH02028319;AMYH02028320;AMYH02028321;BC020726;BC047536;BM973059;CH471093;DC372982;NM_001160706;NM_003843;NM_144777;XM_005266578;XM_006719882;XM_006719883;XM_006719884;XM_006719885;XM_006719886 AAC78461;AAH20726;AAH47536;ADZ15567;BAD96440;BAH13533;EAW80568;EAW80569;NP_001154178;NP_003834;NP_659001;O95171;XP_005266635;XP_006719945;XP_006719946;XP_006719947;XP_006719948;XP_006719949 Hs.534699 2164544;2185602 D13S747;RH68041 FLJ21667;MGC22531 OTTHUMP00000018525;OTTHUMP00000018526 APPROVED protein-coding ENSG00000136155 HGNC:10573 09161 604112 VALIDATED 6483489 SCGB1D5P secretoglobin, family 1D, member 5, pseudogene 4 4 166438428 166438652 - 165517276 165517500 - 22155607 100874258 ABBA01070296;AC012504;AMYH02010441;NG_032727 SCGB1D1P1 pseudo HGNC:42735 INFERRED 1345787 SCGB1D2 secretoglobin, family 1D, member 2 The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008] 11 11 11 q13 59339186 59341742 + 62009102 62012280 + 62241635 62244808 + 1580863;6480464 10066439;12022875;12477932;12576445;15489334;15668787;16502470;17163411;18630503;21139048;22155607;23819652;9720917 10647 O95969 ABBA01003220;AJ224172;AL708956;AMYH02024887;AP003306;BC069290;BC104838;BC104840;CH471076;NM_006551;XM_006718422 AAH69290;AAI04839;AAI04841;CAA11864;EAW74009;NP_006542;O95969;XP_006718485 Hs.204096 LIPB;LPHB;LPNB OTTHUMP00000236064;lipophilin B (uteroglobin family member), prostatein-like;lipophilin-B;prostatein-like lipophilin B;secretoglobin family 1D member 2 APPROVED protein-coding ENSG00000124935 HGNC:18396 18026 615061 REVIEWED 1606365 SCGB1D4 secretoglobin, family 1D, member 4 FOUND IN extracellular region (inferred); INTERACTS WITH 2-methoxyethanol (ortholog); 6-propyl-2-thiouracil (ortholog); ammonium chloride (ortholog) 11 11 11 q12.3 59393130 59395911 - 62063754 62066536 - 62296282 62299064 - 6480464 12477932;12975309;15034037;15340161;22155607 404552 Q6XE38 ABBA01003221;AMYH02024887;AP003306;AY236538;AY359052;BC130639;BC130645;CH471076;NM_206998 AAI30640;AAI30646;AAP69948;AAQ89411;ADR82780;EAW74011;NP_996881;Q6XE38 Hs.473247 IIS IFN-gamma inducible SCGB (IIS);IFN-gamma-inducible secretoglobin;OTTHUMP00000236067;secretoglobin family 1D member 4 protein-coding ENSG00000197745 HGNC:31748 15301 615062 PROVISIONAL 1347983 SCGB2A1 secretoglobin, family 2A, member 1 ENCODES a protein that exhibits protein heterodimerization activity; INVOLVED IN androgen receptor signaling pathway; FOUND IN extracellular space; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one; aflatoxin B1 11 11 11 q13 59305589 59310869 + 61976140 61981411 + 62208668 62213939 + 1580863;6480464 10066439;11446459;12022875;12477932;12539042;12826312;15151203;15489334;16020486;16166429;16395610;18021217;18416968;19635143;20306663;22118674;22155607;23332923;23807163;24550385;24603286;9504814;9720917;9806831 4246 O75556 ABBA01003220;AF071219;AJ224173;AMYH02024887;AP003306;BC062218;CH471076;GN341832;NM_002407 AAC79996;AAH62218;CAA11865;CAY39335;EAW74008;NP_002398;O75556 Hs.97644 1782412 SHGC-154842 LPHC;LPNC;MGB2;MGC71973;UGB3 OTTHUMP00000236063;lacryglobin;lipophilin C;lipophilin-C;mammaglobin 2;mammaglobin B;mammaglobin-2;mammaglobin-B protein-coding ENSG00000124939 HGNC:7051 05096 604398 VALIDATED 1345224 SCGB2A2 secretoglobin, family 2A, member 2 INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid 11 11 11 q13 59367094 59370099 + 62037630 62040628 + 62270155 62273160 + 1580863;6480464 10737800;11329013;12022875;12477932;12539042;14696125;15151203;15447988;15489334;15609337;16110760;16203799;16760290;16761620;16925986;17071045;17192791;17653857;18251583;18289390;18303409;18416968;18451221;18630503;18841443;18846421;19217055;19690758;20092039;20306663;20586026;20920982;21411781;21473729;21623075;21744998;21939647;21976532;22074997;22155607;22897908;22963676;22994369;23212340;23773480;24328556;24603286;8631025;9419211;9488047;9754584 4250 Q13296;Q6NX70 ABBA01003220;AF015224;AI904278;AMYH02024887;AP003306;AY217100;BC067220;BC128252;BC128402;BG207094;CH471076;NM_002411;U33147;XM_005274005 AAC39608;AAC50375;AAH67220;AAI28253;AAI28403;AAO60111;EAW74010;NP_002402;Q13296;XP_005274062 Hs.46452 MGB1;MGC71974;UGB2 OTTHUMP00000236065;mammaglobin 1;mammaglobin A;mammaglobin-1;mammaglobin-A protein-coding ENSG00000110484 HGNC:7050 05712 605562 VALIDATED 732003 SCG3 secretogranin III The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 15 15 15 q21 28866950 28906642 + 51973550 52013223 + 51681353 51721026 + 6480464;7240710 12098761;12388744;12477932;12533531;12975309;14597614;14630798;15125023;15489334;16303743;17200173;18330356;18448176;19150442;20159242;2053134;20550951;21046454;21796137;22987761;22998035;23503679;24882622;7917832;8825061 29106 H0YKC2;Q8WXD2 ABBA01039080;AC020892;AF078851;AF453583;AK075314;AK290175;AK296466;AMYH02030435;AMYH02030436;AMYH02030437;AY359093;BC009511;BC014539;BI552493;CH471082;NG_013214;NM_001165257;NM_013243 AAD44483;AAH09511;AAH14539;AAL67431;AAQ89451;BAF82864;BAG52108;BAG59111;EAW77425;EAW77426;NP_001158729;NP_037375;Q8WXD2 Hs.232618 1338260;1650407;1798126;1848684;2118299;5113026 D15S1017;RH26968;RH67999;SCG3_1974;SHGC-3227;SHGC-36808 FLJ90833;SGIII OTTHUMP00000162544;secretogranin-3 APPROVED protein-coding ENSG00000104112 HGNC:13707 11538 253700;611796 REVIEWED 6480294 SCGB2B3P secretoglobin, family 2B, member 3, pseudogene 19 19 19 q13.11 31848932 31849111 + 35136778 35136957 + 34645873 34646052 + 12477932;22155607 100130342 ABBA01018726;AC020910;AMYH02035967;BC114619;NR_045208 AAI14620 Hs.679909 C2B;SCGB4A3P pseudo HGNC:31895 PROVISIONAL 1604182 SCGB2B2 secretoglobin, family 2B, member 2 FOUND IN extracellular region (inferred); INTERACTS WITH 2-methoxyethanol (ortholog); 6-propyl-2-thiouracil (ortholog); ammonium chloride (ortholog) 19 19 19 q13.11 31796754 31797898 - 35084346 35085490 - 34593441 34594585 - 6480464 12477932;14702039;22155607 284402 Q4G0G5 ABBA01018724;AC022143;AK093495;AMYH02035966;BC093909;BC093935;BX105421;NM_001025591 AAH93909;AAH93935;NP_001020762;Q4G0G5 Hs.656990 5493249 UniSTS:485427 SCGB4A2;SCGBL secretoglobin family 2B member 2;secretoglobin-like APPROVED protein-coding ENSG00000205209 HGNC:27616 18770 615063 VALIDATED 735247 SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) This gene encodes a member of the secretoglobin family of small secreted proteins. The encoded protein has been implicated in numerous functions including anti-inflammation, inhibition of phospholipase A2 and the sequestering of hydrophobic ligands. Defects in this gene are associated with a susceptibility to asthma. [provided by RefSeq, May 2010] 11 11 11 q12.3 59515913 59520084 + 62186507 62190678 + 62419035 62423206 + 1580863;5144208;5144210;5147386;5144135;5144211;5144123;5144139;5144051;5144130;5144055;5143982;5144143;5144142;5144052;5144234;5144215;5144148;5144226;6480464;6903255;2313129;6484113;6903251;7240710;8554872 11107082;11435254;11597923;11967037;11981419;12847279;12921604;15467329;15608088;15799573;15836756;16226776;16369113;17882576;18420837;18558621;18824919;21239758;21255142;21567110;9555576 10470078;10587371;11193760;11258696;11278724;11434507;11774099;11788998;12003994;12014016;12082592;12100044;12127976;12200800;12204889;12477932;12642831;1284526;12927696;1395029;14551164;14669228;14719079;14735466;14990020;15148333;15148962;15297273;15480316;15489334;15549500;15677460;15744536;15813809;15829319;16061484;16081627;16215398;16344560;16387800;16423471;16690962;16703373;16764982;16797381;17094107;17207022;17338426;17507989;17531233;17693780;17703412;17716718;17928103;17957145;18201431;18243143;18316584;18521628;18702901;18818748;18974840;18976364;19019335;19028820;19076932;19128353;19131662;19132521;19222419;19225544;19247692;19258923;19263529;19423540;19479237;19527514;19559392;19632988;19729601;19789190;19852548;19887851;20037209;20237496;20395963;20406964;20438785;20503287;20536507;20553297;20603037;20664959;20677014;20683434;20736038;21045740;21131866;21299834;21767304;21799131;21952535;22155607;22558282;22613976;22788242;22805990;22883104;22902791;23030587;23144326;23258467;23820082;23874631;24030662;24125144;24245748;24735334;3167058;3275712;7521325;7664082;7733299;9022046;9643286 7356 E9PN95;P11684 ABBA01003223;ABBA01003224;AK312165;AMYH02024888;AP003064;BC004481;CH471076;CR541780;DB196705;NG_021331;NM_003357;U01101;U01102;X13197;X59875 AAA18297;AAA81885;AAH04481;ABM84301;ABM87768;BAG35099;CAA31584;CAA42532;CAG46579;EAW74018;NP_003348;P11684 Hs.523732 1775424;1848405 RH71458;UGB CC10;CC16;CCPBP;CCSP;UGB;UP-1;UP1 OTTHUMP00000236107;blastokinin;clara cell phospholipid-binding protein;clara cells 10 kDa secretory protein;secretoglobin, family 1a, member 1;urinary protein 1;urine protein 1;uteroglobin APPROVED protein-coding ENSG00000149021 HGNC:12523 01884 192020;600807 REVIEWED 1343531 SCGB3A1 secretoglobin, family 3A, member 1 FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 5 5 5 q35.3 175639688 175641070 - 180017105 180018487 - 180590105 180591487 - 1580863;6480464 11481438;12175512;12406855;12438750;12477932;12727813;12847263;12975309;14601057;14614327;14977834;15340161;15383627;15472908;15489334;16266985;17545522;17623056;18483325;18950845;19098448;19199708;19258476;19470737;19509163;20496080;20505321;20642860;21274384;21812955;22048254;22095135;22155607;22695491;22871047 92304 Q96QR1 ABBA01010072;AC122714;AF086152;AF313458;AF436839;AMYH02012908;AY040564;AY359064;BC029176;BC072673;CH471165;NM_052863 AAH29176;AAH72673;AAK82942;AAL26217;AAQ04481;AAQ89423;EAW53751;NP_443095;Q96QR1 Hs.62492 HIN-1;HIN1;LU105;MGC87867;PnSP-2;UGRP2 OTTHUMP00000161545;cytokine HIN-1;cytokine high in normal-1;high in normal 1;pneumo secretory protein 2;secretoglobin family 3A member 1;uteroglobin-related protein 2 protein-coding ENSG00000161055 HGNC:18384 05932 606500 VALIDATED 731406 SCG5 secretogranin V (7B2 protein) ENCODES a protein that exhibits unfolded protein binding; enzyme inhibitor activity (ortholog); INVOLVED IN intracellular protein transport (ortholog); peptide hormone processing (ortholog); regulation of hormone secretion (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); Polyposis Syndrome, Hereditary Mixed, 1 (inferred); FOUND IN secretory granule (ortholog); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4',5-pentachlorobiphenyl 15 15 15 q13-q14 9735550 9791154 + 32933757 32989299 + 32641669 32697097 + 1580863;6480464;8554872 11439082;12477932;12646671;14767469;15342556;15489334;15604093;16169070;16713569;17334394;17617923;18448176;19058789;1989596;21761138;21901745;21988832;22947085;23172224;23251661;23383108;24042052;2776483;2840270;3134253;3234177;3293987;3530373;6625600;7722516;7913882;8162254;8617287 6447 C9J650;C9JNY7;H7C4X7;P05408 ABBA01038563;AC123768;AC243655;AC243948;AJ290438;AK314965;BC005349;BC093053;BP377248;CH471125;CR541824;NM_001144757;NM_003020;XM_005254595;XM_005254596;Y00757 AAH05349;AAH93053;CAA68726;CAB90397;CAG46623;EAW92261;EAW92262;EAW92263;NP_001138229;NP_003011;P05408;XP_005254652;XP_005254653 Hs.156540 1644136;1748597;2131956;2174247;2217972;7188008 RH45863;SGNE1_3213;SHGC-110252;STS-Y00757;WI-18351 7B2;P7B2;SGNE1;SgV OTTHUMP00000215364;OTTHUMP00000215365;OTTHUMP00000215366;OTTHUMP00000215367;OTTHUMP00000215368;neuroendocrine protein 7B2;pituitary polypeptide;prohormone convertase chaperone;secretogranin-5;secretory granule endocrine protein I;secretory granule, neuroendocrine protein 1 (7B2 protein) protein-coding ENSG00000166922 HGNC:10816 01410 173120 VALIDATED 1347901 SCGN secretagogin, EF-hand calcium binding protein The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008] 6 6 6 p22.3-p22.1 26879633 26929216 + 25652429 25702011 + 25652201 25701783 + 1580863;6480464;8554872 10811645;11709487;12477932;14574404;14702039;15237930;15489334;15766553;16189514;17083620;19084217;19503597;20529129;21288557;21976236;22474393;22921511;23102406 10590 O76038;Q96P10 ABBA01066548;AF420280;AK094387;AK289477;AL022170;AL512384;AMYH02013341;BC000336;BC003036;BM511122;BQ477463;CH471087;NM_006998;Y16752 AAH00336;AAH03036;AAL16052;BAF82166;CAA76365;EAW55487;EAW55488;NP_008929;O76038 Hs.116428 1678203;2108905;2119088;2123125 AL021842;D6S1468;RH99089;SCGN_9148 CALBL;DJ501N12.8;SEGN OTTHUMP00000016124;SECRET;calbindin-like;secretagogin;setagin APPROVED protein-coding ENSG00000079689 HGNC:16941 10211 609202 REVIEWED 7245020 SCHLAP1 SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 2 2 q31.3 181556831 181781666 + 180692104 180916939 + 8554872 24076601;24165726 101669767 ABBA01062277;ABBA01062278;ABBA01062279;ABBA01062280;ABBA01062281;AC009478;AC104076;AC104820;AMYH02005346;AMYH02005347;AMYH02005348;AMYH02005349;AMYH02005350;AMYH02005351;AMYH02005352;AMYH02005353;AMYH02005354;JX117418;JX117419;JX117420;JX117421;JX117422;JX117423;JX117424;NR_104319;NR_104320;NR_104321;NR_104322;NR_104323;NR_104324;NR_104325 LINC00913;PCAT11;PCAT114 APPROVED ncrna HGNC:48603 615568 VALIDATED 1320587 SCHIP1 schwannomin interacting protein 1 ENCODES a protein that exhibits identical protein binding; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH afimoxifene; all-trans-retinoic acid; atrazine 3 3 3 q25.32-q25.33 157413298 158036888 + 158991036 159615155 + 159273247 159897366 + 6480464;8554872 10669747;11701967;12477932;14702039;15867431;17045569;18029348;18311140;18550753;19197348;19913121;20190752;20195357;20379614;20628086;23377640;8619474;9110174 29970 C9JWG6;F8WDG0;Q9P0W5 ABBA01058802;ABBA01058803;ABBA01058804;ABBA01058805;ABBA01058806;AC021654;AC063955;AC068770;AC092861;AC092943;AC107312;AC131150;AF070614;AF145713;AF145714;AF145715;AK091871;AK309223;AK314662;AMYH02008008;AMYH02008009;AMYH02008010;AMYH02008011;AMYH02008012;AMYH02008013;BC005947;BC036535;BX648179;CA431197;CH471052;DB466706;NM_001197107;NM_001197108;NM_001197109;NM_014575 AAC25386;AAF34241;AAF34242;AAF34243;AAH05947;AAH36535;ABM82116;ABM85300;BAG37220;BAG52432;EAW78659;EAW78660;EAW78661;EAW78662;NP_001184036;NP_001184037;NP_001184038;NP_055390;Q9P0W5 Hs.134665 1336947;1338557;1646649;1646651;1668681;1670474;1689175;1709040;1710094;1714317;1724521;1726493;1758081;1758203;1760485;1761845;1773784;2120744;2125580;2128994;2160226;2172682;2175127;2188233;2188237;2190533;5017789;7186561 A005Y17;D3S1553;D3S3354;D3S3362;D3S3575;D3S4144;EST19B11;G09404;G09423;G16599;G20592;G62626;G66290;G66292;L18085;RH119938;RH122520;RH44994;RH80343;SCHIP1;SHGC-143377;SHGC-145793;SHGC-147311;SHGC-147652;SHGC-53521;SHGC-79593;SHGC-83714 FLJ39160;SCHIP-1 OTTHUMP00000213674;OTTHUMP00000213675;OTTHUMP00000213676;OTTHUMP00000213677;OTTHUMP00000213678;OTTHUMP00000213679;OTTHUMP00000221996;schwannomin interacting protein 1 variant 1;schwannomin interacting protein 1 variant 2;schwannomin-interacting protein 1 protein-coding ENSG00000151967;ENSG00000250588 HGNC:15678 15302 VALIDATED 1604451 SCIMP SLP adaptor and CSK interacting membrane protein This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 17 17 17 p13.2 5131553 5155751 - 5112215 5138997 - 5208920 5234879 - 6480464 12477932;12975309;14702039;18029348;21930792;23503679;24162737 388325 I3L1W2;Q6UWF3 ABBA01054798;AC087500;AK057142;AK297035;AK310145;AMYH02032846;AMYH02032847;AMYH02032848;AY358809;BC127925;BC130554;BC130556;BC144395;CH471108;DQ778084;NM_001271842;NM_207103;XM_005256631 AAI27926;AAI30555;AAI30557;AAI44396;AAQ89169;ABI63348;ADR82817;ADR83350;BAG59563;EAW90348;EAW90349;EAW90350;NP_001258771;NP_996986;Q6UWF3;XP_005256688 Hs.462080 1661839;1669500;2142382;5015961;5016478;5016851;5022200;5022463;5037552;5109281 D15S1477;D17S659;D1S1425;D3S1673;D8S2279;GDB:434012;L18426;RH18233;RH80031;SHGC-33773 C17orf87;FLJ32580;MGC163426;MGC163428;UNQ5783 DTFT5783;OTTHUMP00000163835;SLP adapter and CSK-interacting membrane protein;SLP65/SLP76, Csk-interacting membrane protein;transmembrane protein C17orf87 APPROVED protein-coding ENSG00000161929 HGNC:33504 18267 614406 REVIEWED 1352722 SCKL2 Seckel syndrome 2 ASSOCIATED WITH Microcephaly with Mental Retardation and Digital Anomalies (inferred); Seckel syndrome 2 (inferred) 7240710 11781686 347729 HGNC:20805 251255;606744 1347820 SCKL3 Seckel syndrome 3 ASSOCIATED WITH Seckel Syndrome 3 (inferred) 7240710 14571270 386616 HGNC:20806 608664 1350815 SCIN scinderin SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010] 7 7 7 p21.3 12587891 12670905 + 12609989 12693228 + 12570577 12653603 + 1580863;6480464 11568009;11572484;12438125;12477932;12853948;1331119;14702039;15342343;15489334;1621245;16303743;16344560;18029348;19056867;19666531;23824909;24212916;24330498;9819354 85477 C9JGB6;E5RHN8;E5RHX6;F8WBX5;Q9Y6U3 AB067492;ABBA01056574;ABBA01056575;AC005281;AC011891;AC073232;AF276507;AK027778;AK075123;AK075198;AK290363;AMYH02015246;AMYH02015247;BC021090;CA447429;CA448540;CH236948;CH471073;DB196860;KF510973;NM_001112706;NM_033128 AAD15423;AAH21090;AAK60494;AAS07450;ABM82959;ABM86150;BAB55361;BAB67798;BAC11416;BAC11465;BAF83052;EAW93645;EAW93646;EAW93647;EAW93648;NP_001106177;NP_149119;Q9Y6U3 Hs.633359;Hs.655515 1649697;1657433;1658103;1667790;1767467;1852587;2131207;2143495;2149901;2152758;2171860;2188597;2219674;5094873 D7S1597;G30497;G66344;GDB:1318599;RH18521;RH66415;RH77952;SCIN;SCIN__5553;SHGC-34183;SHGC-55968;STS-H67781;STS-N71427;STS-R63710 KIAA1905 OTTHUMP00000201578;OTTHUMP00000201579;OTTHUMP00000225142;adseverin APPROVED protein-coding ENSG00000006747 HGNC:21695 11539 613416 VALIDATED 731355 SCLT1 sodium channel and clathrin linker 1 This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 4 4 4 q28.2 127187192 127396780 - 129805148 130014764 - 128883993 129093609 - 6480464 12477932;12766061;14702039;15797711;15840729;18029348;19615732;20098747;22087225;23348840;23733509;24285566 132320 D6RBA6;D6RBP0;D6RDM2;Q96NL6 ABBA01044829;ABBA01044830;AC093783;AC093826;AK055217;AK093361;AK122852;AL557810;AMYH02010094;AMYH02010095;AMYH02010096;BC014677;BC040258;BC064428;BC121057;BC121058;BC128051;BG210856;CD679143;CD691962;CH471056;NG_034202;NM_001300897;NM_001300898;NM_144643;XM_005262732;XR_427528 AAH64428;AAI21058;AAI21059;AAI28052;BAB70876;EAX05167;EAX05168;EAX05169;NP_001287826;NP_001287827;NP_653244;Q96NL6;XP_005262789 Hs.654690 1647650;1660845;1673771;1677919;1707758;1715143;1751311;2120742;2127595;2132852;2143299;2154619;2155644;2172216;2172861;2182417;2182702;2183939;2184643;5022200;5037552 D4S3316;D4S443;D4S509;D4S555;D4S818;D8S2279;G34096;L18426;RH119524;SHGC-105183;SHGC-13256;SHGC-35766;SHGC-50205;SHGC-50297;SHGC-50751;SHGC-51552;SHGC-67344;SHGC-82098;SHGC-8635;SHGC4-1667;WI-20811 CAP-1A;CAP1A;FLJ30655;FLJ36042;MGC70542;hCAP-1A OTTHUMP00000164485;sodium channel-associated protein 1 APPROVED protein-coding ENSG00000151466 HGNC:26406 08700 611399 REVIEWED 1343598 SCLY selenocysteine lyase Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM, Mar 2008] 2 2 2 q37.3 232682527 232720990 + 238969565 239008054 + 238060924 238099413 + 1580863;6480464;6907045 10692412;12477932;14702039;1483038;16925092;20379614;21044950;21139048;22291978;22295093;22505724;22863883;24654937;6461656 51540 B4DDP9;C9JNL5;F8WBU3;F8WCL3;H7C1N7;H7C1S7;H7C277;H7C280;H7C2H3;H7C2M1;H7C3V9;H7C4A1;Q59FK2;Q96I15 AB209458;ABBA01042600;ABBA01042601;AC016757;AC016776;AF175767;AK001377;AK127520;AK293283;AK298409;AK301009;AMYH02006071;BC000586;BC007891;BC018966;CH471063;DN995828;NM_016510 AAF36816;AAH00586;AAH07891;AAY24221;AAY24333;ABM84160;ABM87563;BAA91659;BAD92695;BAG56810;BAG60637;BAG62626;EAW71135;EAW71136;EAW71137;EAW71138;EAW71139;NP_057594;Q96I15 Hs.731909 1706572;1853457;1855511;2109809;2160091 Cda0ya05;D2S2653;SCLY_9735;SHGC-81267;WI-13471 SCL;hSCL OTTHUMP00000164474;OTTHUMP00000202726 APPROVED protein-coding ENSG00000132330 HGNC:18161 15303 611056 VALIDATED 1343784 SCML1 sex comb on midleg-like 1 (Drosophila) ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN anatomical structure morphogenesis (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I X X X p22 21874910 21892423 + 17755591 17773105 + 17737449 17754988 + 1580863;6480464;8554872 12477932;15489334;15772651;18601738;19322201;22325352;24250222;7566098;9570953 6322 Q5H966;Q9UN30 AA382395;ABBA01071576;AF160728;AK313993;AMYH02038942;BC009193;BC026159;BC105028;BI461014;BX647757;CH471074;EU370780;NM_001037535;NM_001037536;NM_001037540;NM_006746;XM_005274578;XM_005274579;XM_006724508;XM_006724509;Z93242 AAD47635;AAH26159;AAI05029;ABY68575;ABZ92430;BAG36705;EAW98928;EAW98929;EAW98930;EAW98931;EAW98932;NP_001032624;NP_001032625;NP_001032629;NP_006737;Q9UN30;XP_005274635;XP_005274636;XP_006724571;XP_006724572 Hs.109655 1665520;1676610;1676950;2108443;2131111;2154538 RH46283;RH93889;SCML1_8612;SHGC-53909;STS-H53878;STS-R07875 OTTHUMP00000022996;OTTHUMP00000025692;OTTHUMP00000025693;OTTHUMP00000025694;sex comb on midleg-like protein 1 protein-coding ENSG00000047634 HGNC:10580 02205 300227 VALIDATED 6893013 SCML2P2 sex comb on midleg-like 2 (Drosophila) pseudogene 2 16 16 25080893 25081622 + 25069572 25070301 + 100421172 ABBA01017114;AC133552;AMYH02031736;NG_026403 pseudo HGNC:44330 INFERRED 6893012 SCML2P1 sex comb on midleg-like 2 (Drosophila) pseudogene 1 18 18 18 6812358 6813599 + 6926973 6928214 + 6926974 6928215 + 100421167 ABBA01049901;AMYH02034259;AP005210;NG_026306 pseudo HGNC:44329 INFERRED 1352337 SCML2 sex comb on midleg-like 2 (Drosophila) This gene encodes a member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and may be involved in regulating homeotic gene expression during development. [provided by RefSeq, Jun 2010] X X X p22 22377536 22492940 - 18257433 18372844 - 18239313 18354724 - 1580863;6480464;8554872 10331946;12477932;12952983;14702039;15302935;15489334;18706910;19471022;19615732;21252943;22325352;22412018;24163370;24457600;24727478;24816145 10389 B4DRC2;H0Y6S1;Q9UQR0 ABBA01071620;ABBA01071621;ABBA01071622;ABBA01071623;ABBA01071624;ABBA01071625;ABBA01071626;ABBA01071627;AK022824;AK299190;AK303064;AK308140;AK315116;AL031007;AL096763;AL833937;AMYH02038946;AMYH02038947;AMYH02038948;AMYH02038949;BC040497;BC051913;BC064617;CH471074;KF459011;NG_021431;NM_006089;NR_033717;XM_006724457;XM_006724458;Y18004;Z93023 AAH51913;AAH64617;BAG61234;BAG64181;CAB38943;CAD38792;EAW98937;EAW98938;EAW98939;NP_006080;Q9UQR0;XP_006724520;XP_006724521 Hs.495774 1665520;1858401;2116400;5022322;5022450 D10S275;D11S2560;G06175;STS-N74417;STS-R07875 OTTHUMP00000023000;sex comb on midleg-like protein 2 APPROVED protein-coding ENSG00000102098 HGNC:10581 02195 300208 REVIEWED 1351823 SCN12A sodium channel, voltage-gated, type XII, alpha 10623608 337933 AF109737 HGNC:10584 1322066 SCML4 sex comb on midleg-like 4 (Drosophila) ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; lead(0) 6 6 6 q21 108771904 108892338 - 108023361 108145521 - 107702157 107824403 - 6480464;8554872 12477932;14702039;18978678 256380 B4E0X3;F2Z2X1;Q5T0T5;Q8N228 AB072902;ABBA01026165;ABBA01026166;ABBA01026167;AK074125;AK093571;AK303562;AL096816;AL512490;AL512592;AMYH02014260;AMYH02014261;BC021582;BC033286;BE349472;BG767121;CH471051;CQ834612;CR975586;DC410126;NM_001286408;NM_001286409;NM_198081;XM_006715436;XM_006715437;XR_427968 AAH33286;ABZ92125;BAB84951;BAC04198;BAG64585;CAH05521;EAW48393;EAW48394;EAW48395;EAW48396;NP_001273337;NP_001273338;NP_932347;Q8N228;XP_006715499;XP_006715500 Hs.486109 1339487;1709978;1762369;5017665 D6S941;SHGC-146199;SHGC-82258;TKY1995 FLJ36252;dJ47M23.1 OTTHUMP00000016934;OTTHUMP00000197438;sex comb on midleg-like protein 4 protein-coding HGNC:21397 10212 VALIDATED 1342640 SCN11A sodium channel, voltage-gated, type XI, alpha subunit Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[supplied by OMIM, Apr 2004] 3 3 3 p22.2 38826267 38932035 - 38887260 38995136 - 38845769 38953651 - 6480464;8699517;7240710;8554872 10444332;10580103;10623608;11144347;12384689;12536125;15302875;16382098;19056867;21857998;24036948;24144460;24207120;24776970 11280 Q9UI33;Q9UKU5 ABBA01024815;ABBA01024816;ABBA01024817;AC116038;AC123903;AF109737;AF126739;AF150882;AF188679;AJ417790;AMYH02006575;AMYH02006576;AMYH02006577;AY686224;CH471055;CS275932;NG_033859;NM_001287223;NM_014139 AAD53407;AAF17480;AAF24976;AAF24980;AAI72234;AAT95434;CAD10507;CAJ84379;EAW64544;EAW64545;EAW64546;NP_001274152;NP_054858;Q9UI33 Hs.591657 5022200;5022450;5037552 D10S275;D8S2279;L18426 FEPS3;HSAN7;NAV1.9;NaN;PN5;SCN12A;SNS-2;hNaN OTTHUMP00000045937;OTTHUMP00000209286;OTTHUMP00000209287;peripheral nerve sodium channel 5;sensory neuron sodium channel 2;sodium channel protein type 11 subunit alpha;sodium channel protein type XI subunit alpha;sodium channel, voltage-gated, type XI, alpha polypeptide;sodium channel, voltage-gated, type XII, alpha polypeptide;sodium channel, voltage-gated, type xi, alpha;voltage-gated sodium channel Nav1.9;voltage-gated sodium channel subunit alpha Nav1.9 APPROVED protein-coding ENSG00000168356 HGNC:10583 05090 604385;615548;615552 REVIEWED 1354096 SCN2A sodium channel, voltage-gated, type II, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q24.3 159706512 159859384 + 165986659 166248820 + 165130149 165392310 + 1580863;1358571;6480464;7240710;8554872;8699517 11823106 10344788;10486327;11000491;11245985;11326335;11371648;11738931;12036953;12165424;12243921;12477932;12610651;12930796;1317301;1325650;14761957;15028761;15048894;15249644;15316014;15342556;15681389;16052353;16169070;16344560;16382098;16417554;16464983;16652168;16847056;16914293;17386050;17467289;17544618;17641256;17715289;17805013;1846440;18479388;18784617;19129176;19270815;19401682;19465131;19694741;19738391;19743470;19783390;19786696;20346423;20371507;20379614;20467438;20602612;21156207;21377452;21439835;21762452;22029951;22495306;22525008;22591750;22677033;23016767;23360469;23550958;23758435;23827426;23859570;23935176;24024966;24220630;24337656;24579881;24659627;24718902;2571571;8889548 6326 A8K0U1;Q99250 AB208888;ABBA01004917;AC011303;AC013438;AC013463;AF059683;AF327228;AF327246;AK289656;AL137498;AMYH02005130;AMYH02005131;AMYH02005132;BC029489;BC047398;BC048417;BP199510;BP311214;BU729783;CH471058;DA232976;DQ993531;DQ993533;M55662;M91804;M94055;NG_008143;NM_001040142;NM_001040143;NM_021007;X65361;XM_005246750;XM_005246751;XM_005246753;XM_005246754;XM_005246755;XM_005246756 AAA18895;AAB65854;AAC14574;AAG53412;AAG53413;AAY14971;ACX32328;BAD92125;BAF82345;CAA46438;EAX11328;EAX11329;EAX11330;NP_001035232;NP_001035233;NP_066287;Q99250;XP_005246807;XP_005246808;XP_005246810;XP_005246811;XP_005246812;XP_005246813 Hs.93485 1334855;1335926;1336069;1669041;1690778;1696592;1704710;1751589;1775135;1775137;2110717;2138214;2141343;2177009;5492263;5492265 D2S124;D2S2330;D2S399;RH45814;RH47377;RH79255;SCN2A2_3453;SHGC-105580;SHGC-30518;SHGC-3738;SHGC-53406;SHGC-79014;SHGC-82894;Scn1a;Scn3a;WI-18792 BFIC3;BFIS3;BFNIS;EIEE11;HBA;HBSCI;HBSCII;NAC2;Na(v)1.2;Nav1.2;SCN2A1;SCN2A2 HBSC II;OTTHUMP00000041049;OTTHUMP00000041050;sodium channel protein brain II subunit alpha;sodium channel protein type 2 subunit alpha;sodium channel protein type II subunit alpha;sodium channel protein, brain type 2 alpha subunit;sodium channel, voltage-gated, type 2, alpha 1 polypeptide;sodium channel, voltage-gated, type II, alpha 1 polypeptide;sodium channel, voltage-gated, type II, alpha 2 polypeptide;voltage-gated sodium channel subtype II;voltage-gated sodium channel subunit alpha Nav1.2 APPROVED protein-coding ENSG00000136531 HGNC:10588 03133 182390;607745;613721 REVIEWED 736397 SCN2B sodium channel, voltage-gated, type II, beta subunit ENCODES a protein that exhibits sodium channel regulator activity; voltage-gated sodium channel activity involved in cardiac muscle cell action potential; INVOLVED IN cardiac muscle cell action potential involved in contraction; cardiac muscle contraction; membrane depolarization during cardiac muscle cell action potential; ASSOCIATED WITH Otitis Media (ortholog); FOUND IN voltage-gated sodium channel complex; INTERACTS WITH 5-fluorouracil; arsenite(3-); cisplatin 11 11 11 q23 115191374 115205190 - 118033519 118047337 - 118162804 118176622 - 1580863;6480464;6484586 12206256 10198179;12477932;12975309;14702039;15489334;15833746;16344560;19808477;20226894;20301690;20379614;23551011;23559163;24337656;6319405;7566098;8521473;9295116;9887383 6327 O60939;Q5U0K8 ABBA01039715;AF007783;AF049497;AF049498;AF107028;AK090729;AK094643;AK308834;AK313891;AMYH02025637;AP002800;AY358945;BC036793;BQ574152;BT019487;CH471065;DA290917;NM_004588;U87555 AAC05208;AAC05274;AAC26013;AAD47196;AAF21472;AAH36793;AAQ89304;AAV38294;ABM83352;ABM83560;ABM86566;BAG36614;EAW67353;NP_004579;O60939 Hs.129783 1774407;1779286;2107563;2126097;2134505 D11S4701;HSC0CC032;SCN2B_7255;SHGC-153284;WI-20536 ATFB14 OTTHUMP00000045939;neuronal voltage-gated sodium channel beta 2 subunit;sodium channel beta 2 subunit;sodium channel subunit beta-2;sodium channel, voltage-gated, type II, beta polypeptide APPROVED protein-coding ENSG00000149575 HGNC:10589 03208 601327;615378 VALIDATED 1346821 SCGB3A2 secretoglobin, family 3A, member 2 The protein encoded by this gene is a secreted lung surfactant protein and a downstream target of thyroid transcription factor. A single nucleotide polymorphism in the promoter of this gene results in susceptibility to asthma.[provided by RefSeq, Mar 2010] 5 5 5 q32 143339072 143342554 + 147258274 147261756 + 147878711 147882193 + 5144233;5144231;5144230;5147390;5147389;5144225;5147392;5128690;5144129;5144229;5144232;6480464;7240710;8554872 11813133;15531759;16456148;17218572;18089940;18201431;19418968;20466451;21385388;21410962;21478551 10949149;11682631;12175512;12477932;12847263;12975309;15485815;15489334;15591807;16195814;19126779;19247692;20210668;20843168;21170691;22155607;8557195 117156 D6RBX5;Q2L6B3;Q96PL1 AA988559;AB223046;ABBA01026321;AC011352;AF313455;AF439544;AF439545;AMYH02012428;AY358979;BC024232;CH471062;NG_016867;NM_054023 AAH24232;AAL26215;AAQ04559;AAQ04560;AAQ89338;ABM84019;ABM87364;BAE78654;EAW61818;NP_473364;Q96PL1 Hs.483765 5112207 RH102354 LU103;PNSP1;UGRP1;pnSP-1 OTTHUMP00000160144;pneumo secretory protein 1;secretoglobin family 3A member 2;uteroglobin-related protein 1 APPROVED protein-coding ENSG00000164265 HGNC:18391 05940 600807;606531 REVIEWED 1314031 SCMH1 sex comb on midleg homolog 1 (Drosophila) ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN gene silencing (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN chromocenter (inferred); nucleoplasm (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 1 1 1 p34 39775792 39990782 - 41492871 41707815 - 41027199 41242143 - 1580863;6480464;8554872 10524249;10653359;12167701;12477932;14702039;14973489;15489334;16169070;16710414;16713569;17081983;18391952;19266077;20211142;20546612;20881960;22325352;23207902;23563607;24457600 22955 B3KMZ7;J3KPV8;Q96GD3 AA912153;ABBA01023153;ABBA01023154;ABBA01023155;AF149045;AF149046;AK023124;AK299383;AK301497;AL110502;AL391730;AL606484;AMYH02000865;AMYH02000866;BC009752;BC021252;BX640721;CH471059;CR457161;NM_001031694;NM_001172218;NM_001172219;NM_001172220;NM_001172221;NM_001172222;NM_012236;XM_005270639;XM_006710462;XM_006710463;XM_006710464;XM_006710465;XM_006710466;XM_006710467;XM_006710468;XM_006710469;XM_006710470;XR_426594;XR_426595 AAF01150;AAF01151;AAH09752;AAH21252;ABM83593;ABM86837;BAG51159;BAG61370;BAG63008;CAE45840;CAG33442;EAX07181;EAX07182;EAX07183;EAX07184;EAX07185;NP_001026864;NP_001165689;NP_001165690;NP_001165691;NP_001165692;NP_001165693;NP_036368;Q96GD3;XP_005270696;XP_006710525;XP_006710526;XP_006710527;XP_006710528;XP_006710529;XP_006710530;XP_006710531;XP_006710532;XP_006710533 Hs.571874 1334819;1675858;1686620;1694530;1721809;1722523;1798128;1854910;2110913;2123152;2133863;2137298;2144074;2155605;2173801;5019895 AL009711;D1S2722;D1S327E;G27473;G43043;G54630;G59927;G60187;RH79952;RH98352;SCMH1_2142;SHGC-44348;SHGC-74647;SHGC-74648;SHGC-74656;SHGC-74660 Scml3 OTTHUMP00000006330;OTTHUMP00000006331;OTTHUMP00000006332;OTTHUMP00000006333;OTTHUMP00000006334;SCMH1 {ECO:0000312|EMBL:CAH72793.1};polycomb protein SCMH1 protein-coding ENSG00000010803 HGNC:19003 11540 VALIDATED 1350483 SCN1B sodium channel, voltage-gated, type I, beta subunit Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 19 19 19 q13.1 32237030 32244951 + 35521555 35531353 + 35030688 35040449 + 1580863;6480464;6484255;7240710;8554872;8699517 22581745 11470829;11744748;11997395;12011299;12477932;12486163;12677453;14500339;14504340;14622265;14761957;15489334;16052353;16205844;17604911;17629415;17884088;17927801;18052691;18093548;18175077;18464934;18755274;19270815;19522081;19710327;19808477;19861310;20137763;20226894;20301494;20301690;20602612;21040232;21882141;21994374;22011963;22155597;22284586;22292491;23022100;23182416;24337656;24561865;24605816;24623842;6319405;7851891;8125980;8394762;9697698 6324 B4DI92;Q07699 ABBA01018730;ABBA01018731;AC020907;AK295477;AK313279;AMYH02035973;AY391842;BC021266;BC030193;BC067122;BC112922;BF194996;BM805468;BT019923;DQ677665;L10338;L16242;NG_013359;NM_001037;NM_199037;U12193;XM_005259144 AAA60391;AAA61277;AAB97608;AAH21266;AAH67122;AAI12923;AAR25552;AAV38726;ABQ01236;BAG36087;BAG58404;NP_001028;NP_950238;Q07699;XP_005259201 Hs.436646 1674802;1744167;1852617;2164084;2217942;5092994 A009D43;G32458;GDB:434009;SCN1B_3452;STS-L16242;STS-R56235 ATFB13;BRGDA5;GEFSP1 sodium channel beta-1 subunit;sodium channel subunit beta-1 APPROVED protein-coding ENSG00000105711 HGNC:10586 02581 600235;604233;612838;615377 REVIEWED 735494 SCN4B sodium channel, voltage-gated, type IV, beta subunit The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009] 11 11 11 q23.3 115161938 115181485 - 118004092 118023630 - 118133377 118152915 - 1580863;6480464;7240710;8554872;8699517 12477932;12930796;1293796;14702039;15489334;16344560;17592081;18941776;19808477;20226894;20301308;21051419;21115638;22842345;23604097;24297919 6330 B0YJ93;Q8IWT1 ABBA01039715;AK090713;AK092285;AK124886;AK314531;AMYH02025637;AP002800;AY149967;BC035017;BX538328;CH471065;DA109496;DA111034;DA211092;DA247019;DB101246;DB237478;EF445029;NG_011710;NM_001142348;NM_001142349;NM_174934;NR_024527 AAH35017;AAN74584;ACA06071;BAG37123;EAW67351;EAW67352;NP_001135820;NP_001135821;NP_777594;Q8IWT1 Hs.65239 1651697;1683735;2107565 RH98735;SCN4B_3456.2;WI-19664 ATFB17;LQT10;Navbeta4 OTTHUMP00000234705;OTTHUMP00000234706;sodium channel beta-4 subunit;sodium channel subunit beta-4 APPROVED protein-coding ENSG00000177098 HGNC:10592 09749 608256;611819 REVIEWED 1350710 SCN3B sodium channel, voltage-gated, type III, beta subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 120659315 120684712 - 123499895 123525315 - 123629187 123654607 - 633985;1580863;6480464;7240710;8554872;8699517 10688874 10574461;11076863;11212211;11230166;11256614;11470829;12220575;12477932;14702039;15232296;15334053;15342556;15489334;15489336;16344560;16381901;16415175;19385982;19596049;19808477;20042427;20226894;20301690;20558140;20675377;21051419;23118027;23257389;23770605;24250222;24292274 55800 E9PJP6;E9PQS8;Q9NY72 AB032984;ABBA01031269;AJ243396;AK055033;AK314513;AL136589;AMYH02025718;AP002765;BC045704;BC117282;BC126265;BP202832;BX106794;CH471065;DA327760;DA806480;DQ677666;NG_016283;NM_001040151;NM_018400;XM_006718882;XR_428980 AAI17283;AAI26266;ABQ01237;ADR82877;BAA86472;BAG37113;CAB66524;CAB76825;CAL38175;EAW67550;EAW67551;EAW67552;NP_001035241;NP_060870;Q9NY72;XP_006718945 Hs.4865 1650862;1696722;1792716;1850043;2136033;2141433;2185637;5014063;5109281 A006Q45;A006R46;D15S1390;D1S1425;PMC15797P2;RH12768;SHGC-77877;STS-Z41028;T03530 ATFB16;BRGDA7;HSA243396;SCNB3 OTTHUMP00000231688;OTTHUMP00000231689;sodium channel subunit beta-3;voltage-gated sodium channel beta-3 subunit APPROVED protein-coding ENSG00000166257 HGNC:20665 10497 608214;613120 REVIEWED 732165 SCN4A sodium channel, voltage-gated, type IV, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008] 17 17 17 q23.3 56403975 56438354 - 62015914 62066876 - 63938554 63989511 - 1580863;6480464;7240710;8554872;8699517 10218481;10366610;10599760;10851391;10944223;11558801;11591859;12210802;12766226;1310396;1310531;1310898;1315496;1316765;1338909;1339144;14527681;15072700;15123239;15318338;15459238;15482957;15596759;15746172;15790667;16382098;16392038;16506889;1654742;1659668;1659948;16637659;16870577;16890191;17151947;17212350;17334961;17804458;17823953;17898326;17998485;18046642;18079277;18166706;18270170;18281721;18337730;1851726;18690054;18726720;19015483;19077043;19118277;19211598;19290024;19347921;19773279;19840739;19881885;19882638;20038812;20301347;20301512;20301669;20713951;21043388;21099342;21317558;21521764;21606664;21664816;21665479;2173143;21841462;22250216;22617007;22653516;22914841;23381896;23417379;23420899;23771340;24549961;24607901;8044656;8058156;8242056;8308722;8385647;8388676;8575757;8580427;9164815;9392583;9412493;9521881;9677412 6329 J3QQZ1;P35499 ABBA01035314;ABBA01035315;AC127029;AF038871;AMYH02033784;AY212253;CH471109;L01983;L04216;L04217;L04218;L04219;L04220;L04221;L04222;L04223;L04224;L04225;L04226;L04227;L04228;L04229;L04230;L04231;L04232;L04233;L04234;L04235;L04236;M81758;NG_011699;NM_000334;S82622;U24693;XM_005257566 AAA60554;AAA75557;AAB21450;AAB59624;AAC14673;AAG43105;AAI72375;AAO83647;EAW94225;EAW94226;NP_000325;P35499;XP_005257623 Hs.46038 1661161;1674518;1741951;1741953;1771030;2149451;5492265 D2S2975;GDB:186996;GDB:186997;RH66541;RH77871;STS-M81758;Scn3a HOKPP2;HYKPP;HYPP;NAC1A;Na(V)1.4;Nav1.4;SkM1 skeletal muscle voltage-dependent sodium channel type IV alpha subunit;sodium channel protein skeletal muscle subunit alpha;sodium channel protein type 4 subunit alpha;sodium channel protein type IV subunit alpha;voltage-gated sodium channel subunit alpha Nav1.4 APPROVED protein-coding ENSG00000007314 HGNC:10591 04912 168300;170500;603967;608390;613345;614198 REVIEWED 736601 SCN3A sodium channel, voltage-gated, type III, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q24 159554632 159671179 - 165944030 166060577 - 165087520 165204088 - 1580863;6480464;8554872 10718198;10827173;11122339;11245985;11566500;12610651;15317864;15548568;16029190;16052353;16344560;16382098;17544618;18784617;19699781;20346423;20379614;20395553;22494998;23016767;23333304;23859570;24157691;24337656;8159690;8889548;9589372 6328 C9JBM7;E7EUE6;Q9C007;Q9NY46 AB037777;ABBA01004916;ABBA01004917;AC013463;AF035685;AF035686;AF225986;AF225987;AF239921;AF330135;AJ251507;AJ276139;AJ276140;AJ277394;AK299757;AK301853;AL079365;AMYH02005128;AMYH02005129;AMYH02005130;BM681920;CH471058;DA772987;DA796981;DQ993536;DQ993537;DQ993538;NM_001081676;NM_001081677;NM_006922;S69887;XM_006712679 AAB30530;AAC29514;AAC29515;AAF44690;AAG53414;AAG53415;AAK00218;AAK00219;AAY15072;BAA92594;BAG61646;BAG63295;CAB85895;CAC03582;CAC03583;CAC03586;EAX11331;EAX11332;EAX11333;EAX11334;EAX11335;NP_001075145;NP_001075146;NP_008853;Q9NY46;XP_006712742 Hs.435274 1340647;1676758;2121036;2158960;2173948;2217944;5492263 D2S382;G16466;RH17907;RH79252;SCN3A_3454;Scn1a;WI-15259 KIAA1356;NAC3;Nav1.3 OTTHUMP00000041047;OTTHUMP00000041048;OTTHUMP00000204827;brain III voltage-gated sodium channel;sodium channel protein brain III subunit alpha;sodium channel protein type 3 subunit alpha;sodium channel protein type III subunit alpha;sodium channel, voltage-gated, type III, alpha polypeptide;voltage-gated sodium channel subtype III;voltage-gated sodium channel subunit alpha Nav1.3 APPROVED protein-coding ENSG00000153253 HGNC:10590 01671 182391 REVIEWED 735777 SCN1A sodium channel, voltage-gated, type I, alpha subunit The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.[provided by RefSeq, Jan 2011] 2 2 2 q24.3 160455660 160540161 - 166845670 167005642 - 165989160 166149132 - 727292;1580863;6480464;7240710;8554872;8699517 10742094 10514109;11254444;11254445;11295230;11359211;11524484;11579435;11756608;11779698;11823106;11940708;12083760;12086636;12566275;12610651;12742596;12754708;12773292;12821740;12837571;12919402;13129592;1317301;14504318;14672992;14702039;14738421;15087100;15249644;15263074;15277629;15508916;15525788;15715999;15880351;16054936;16210358;16326807;16380441;16382098;16430863;16505326;16541393;16713920;17001291;17030758;17054684;17054685;17065438;17347258;17397047;17436242;17507202;17537961;17544618;17565594;17621480;17927801;17928445;18021921;18056581;18076640;18093548;18175077;18251839;18274552;18275929;18294202;18330841;18342948;18413471;18451712;18479393;18489610;18554359;18554360;18554361;18566737;18621678;18632931;18655196;18680191;18784617;18930999;19007941;19070316;19099883;19200853;19214208;19220312;19236456;19270815;19289736;19292758;19332696;19339291;19350499;19400878;19402159;19464195;19464834;19469841;19522081;19563458;19585586;19586930;19589774;19673951;19694741;19782004;19949041;20037572;20038948;20064729;20110217;20117752;20194124;20301494;20301562;20410126;20431604;20447868;20452746;20477842;20484682;20506560;20519669;20522430;20600615;20602612;20630778;20675100;20682179;20879882;21156207;21163940;21248271;21371021;21377452;21396429;21426328;21504425;21504426;21531204;21555645;21561445;21713554;21726526;21753172;21762453;21843600;21864321;21868258;21881118;21890636;21906962;21940124;22000312;22011963;22014581;22071555;22147323;22150645;22151702;22188362;22206733;22292851;22309220;22341965;22386634;22430156;22532537;22534457;22578703;22719002;22780858;22848613;22944210;22949513;22952603;22992729;23057548;23066759;23086956;23093055;23158734;23195492;23225037;23291792;23398550;23398611;23466530;23485646;23762420;23786015;23859570;23884151;23916143;24014518;24076350;24101488;24107939;24125961;24257433;24277604;2429308;24328833;24337656;24372310;24623842;24902755;8062593;9412493 6323 P35498 AB093548;AB093549;AB098335;ABBA01004927;ABBA01004928;AC010127;AC107082;AF225985;AK094487;AK293759;AK294900;AMYH02005138;AMYH02005139;AMYH02005140;AY043484;CH471058;EU368117;EU368119;HQ726795;HQ726796;HQ726798;HQ726799;M91803;NG_011906;NM_001165963;NM_001165964;NM_001202435;NM_006920;S71446;X65362 AAB31605;AAK00217;AAK95360;AAX81984;ABY76307;AEJ07962;AEJ07963;AEJ07965;AEJ07966;BAC21101;BAC21102;BAC45228;BAG57178;BAG57989;CAA46439;EAX11318;EAX11319;NP_001159435;NP_001159436;NP_001189364;NP_008851;P35498 Hs.22654 1665065;1676562;2109811;2134033;2187631 A006O14;HSC2FB112;RH47954;RH92200;SCN1A_3451 EIEE6;FEB3;FEB3A;FHM3;GEFSP2;HBSCI;NAC1;Nav1.1;SCN1;SMEI OTTHUMP00000041051;OTTHUMP00000041052;OTTHUMP00000205012;sodium channel protein brain I subunit alpha;sodium channel protein type 1 subunit alpha;sodium channel protein type I subunit alpha;sodium channel protein, brain I alpha subunit;sodium channel voltage gated type 1 alpha subunit;sodium channel, voltage-gated, type I, alpha polypeptide;voltage-gated sodium channel subunit alpha Nav1.1;voltage-gated sodium channel type I APPROVED protein-coding ENSG00000144285 HGNC:10585 01669 182389;604403;607208;609634 REVIEWED 1349086 SCN10A sodium channel, voltage-gated, type X, alpha subunit The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 3 3 3 p22.2 38677898 38774543 - 38738837 38835501 - 38697346 38794010 - 1580863;6480464;6484251;6484253;8699517;7240710;8554872 19070548;21965668 10198179;12591166;15797711;16382098;16506887;16598065;19056867;19164297;19233853;19563686;19699781;19877286;19953341;20018876;20062060;20062061;20062063;20237269;20379614;20720009;21041692;21076409;21646736;22618805;23047628;23115331;23139255;23273568;23463857;23872634;23986244;24006052;24086692;24144460;24642470;24763188;24998131;9839820 6336 Q9Y5Y9 ABBA01024817;ABBA01024818;AC116038;AC137625;AF117907;AMYH02006572;AMYH02006573;CH471055;CQ891317;NG_031891;NM_001293306;NM_001293307;NM_006514;XM_005265371 AAD30863;AAI72222;CAH68722;EAW64543;NP_001280235;NP_001280236;NP_006505;Q9Y5Y9;XP_005265428 Hs.250443 1729462;2217940 D3S1100;SCN10A_3461 FEPS2;Nav1.8;PN3;SNS;hPN3 OTTHUMP00000045936;peripheral nerve sodium channel 3;sodium channel protein type 10 subunit alpha;sodium channel protein type X subunit alpha;sodium channel, voltage-gated, type X, alpha polypeptide;voltage-gated sodium channel subunit alpha Nav1.8 APPROVED protein-coding ENSG00000185313 HGNC:10582 09188 604427;615551 REVIEWED 737151 SCN9A sodium channel, voltage-gated, type IX, alpha subunit This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009] 2 2 2 q24 160661621 160841488 - 167051695 167232497 - 166195185 166375987 - 1599515;1599517;1580863;6480464;7240710;8554872;8699517 14985375;16216943 10198179;11283792;15178348;15302875;15385606;15929046;15955112;15958509;16088330;16382098;16392115;16988069;17008310;17135418;17167479;17294067;17404832;17410110;17430993;17470132;17597096;17928139;17950472;17985268;18036246;18060017;18070139;18070140;18079277;18171466;18337362;18347287;18426592;18439623;18518989;18599537;18676988;18803825;18945915;18978189;19304393;19557861;19633428;19699781;19763161;19800314;20033988;20038812;20074229;20146699;20212137;20301342;20301494;20379614;20429905;20478850;20529324;20628234;20635406;20692858;20959280;21031562;21094958;21115638;21232038;21441906;21698661;21705421;21715690;21939494;21984269;22033523;22136189;22286749;22348792;22539570;22875917;22911851;23006801;23102778;23129781;23149731;23232607;23259602;23280954;23292638;23364568;23383113;23450472;23536180;23596073;23836888;23850641;23874707;23895530;23986482;24082113;24311784;7720699;8889548;9169448 6335 E9PBA5;H7C064;Q15858 ABBA01004929;AC074101;AC107082;AC108146;AJ277393;AJ310882;AJ310883;AJ310897;AJ580918;AJ580919;AK307549;AL517958;AMYH02005140;AMYH02005141;AMYH02005142;AMYH02005143;AY682084;AY682085;AY682086;BU742924;CH471058;DQ148960;DQ857292;NG_012798;NM_002977;X82835;XM_005246757 AAT85833;AAT85834;AAT85835;AAY14794;AAZ77737;ABI51981;CAA58042;CAC84537;CAC84550;CAC84551;CAE45644;CAE45645;EAX11314;EAX11315;EAX11316;NP_002968;Q15858;XP_005246814 Hs.439145 1336069;1340229;1340813;1665480;1755691;1763707;1765097;2110721;2111378;2113902;2143879;5492265 D11S4681;D2S1510E;D2S1776;D2S2330;D2S2370;HSC0CD092;SCN9A;SCN9A_3460;SHGC-142531;SHGC-147379;SHGC-148625;Scn3a ETHA;FEB3B;GEFSP7;NE-NA;NENA;Nav1.7;PN1;SFNP;hNE-Na OTTHUMP00000204933;OTTHUMP00000204936;neuroendocrine sodium channel;peripheral sodium channel 1;sodium channel protein type 9 subunit alpha;sodium channel protein type IX subunit alpha;sodium channel, voltage-gated, type IX, alpha polypeptide;voltage-gated sodium channel alpha subunit Nav1.7;voltage-gated sodium channel subunit alpha Nav1.7 APPROVED protein-coding ENSG00000169432 HGNC:10597 04565 133020;167400;243000;603415;607208;613863 REVIEWED 1601888 SCN7A sodium channel, voltage-gated, type VII, alpha subunit This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011] 2 2 2 q21-q23 160870532 160952254 - 167260083 167343481 - 166403468 166494232 - 6480464;8554872 10198179;11144347;12477932;1317577;14669210;17339538;18029348;1846440;19451621;7874451;8188276;8889548 6332 C9JII9;C9JW43;F8WD82;Q01118 ABBA01004929;ABBA01004930;AC074101;AC092583;AK308450;AMYH02005144;AMYH02005145;AMYH02005146;BC062699;BC141864;CF129950;CH471058;CK903677;M91556;NG_031928;NM_002976;NR_045628;S75992;XM_006712680;XM_006712681;XM_006712682 AAA59899;AAD14203;EAX11312;EAX11313;NP_002967;Q01118;XP_006712743;XP_006712744;XP_006712745 Hs.596087;Hs.644853 1646506;1703522;1721763;1767741 A007J23;G59750;SHGC-82665;WI-9171 NaG;Nav2.1;Nav2.2;SCN6A OTTHUMP00000205008;putative voltage-gated sodium channel subunit alpha Nax;sodium channel protein cardiac and skeletal muscle subunit alpha;sodium channel protein type 7 subunit alpha;sodium channel protein type VII subunit alpha;sodium channel, voltage-gated, type VI, alpha polypeptide;sodium channel, voltage-gated, type VII, alpha polypeptide;voltage-dependent sodium channel alpha subunit APPROVED protein-coding ENSG00000136546 HGNC:10594 08355 182392 REVIEWED 1351349 SCN8A sodium channel, voltage gated, type VIII, alpha subunit This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 12 12 12 q13 50787152 51004408 + 51984050 52206648 + 51590266 51812864 + 1580863;6480464;6484224;7240710;8699517;8554872 19584134 10066808;10779552;14702039;15282281;15302875;15676283;16014723;16382098;16702217;16775201;17805013;17881658;18718804;18812204;19136557;19352218;20204400;20351042;20379614;20421839;20483028;20530479;20600647;20632842;21156207;21562192;21630263;22365152;23640885;24888894;7670495;9295353;9828131 6334 F8VRN5;F8VWM7;F8W0Q0;Q9UQD0 AB027567;AB037525;ABBA01031616;AC013421;AC025097;AC068987;AC140060;AF049618;AF050711;AF050712;AF050713;AF050714;AF050715;AF050716;AF050717;AF050718;AF050719;AF050720;AF050721;AF050722;AF050723;AF050724;AF050725;AF050726;AF050727;AF050728;AF050729;AF050730;AF050731;AF050732;AF050733;AF050734;AF050735;AF050736;AF225988;AJ276141;AJ276142;AJ277395;AJ310884;AJ310885;AJ310898;AK091315;AK309213;AMYH02026489;AMYH02026490;AMYH02026491;AY510083;AY682081;AY682082;AY682083;BX112779;CH471111;FJ611941;NG_021180;NM_001177984;NM_014191;XM_006719556 AAD15789;AAD20439;AAF35390;AAS89692;AAT85830;AAT85831;AAT85832;ACM63162;BAA78033;BAA90445;BAC03635;CAC03584;CAC03585;CAC03587;CAC84527;CAC84528;CAC84538;EAW58197;EAW58198;EAW58199;EAW58200;EAW58201;EAW58202;NP_001171455;NP_055006;Q9UQD0;XP_006719619 Hs.436550;Hs.710638 1335913;1651151;1651340;1679810;1693588;1694634;1712432;1712436;1747987;1748219;1774948;1776539;1850274;2113472;2145096;2151341;2217946;7186847 A006S01;D12S1546;D12S1968;D12S2211;D12S347;G43469;G54251;G54253;G64234;G64248;RH11256;RH78513;RH92945;SCN8A_3459;SHGC-31178;SHGC-58494;WI-15800 CIAT;CerIII;EIEE13;FLJ33996;MED;NaCh6;Nav1.6;PN4 OTTHUMP00000241297;OTTHUMP00000241298;hNa6/Scn8a voltage-gated sodium channel;sodium channel protein type 8 subunit alpha;sodium channel protein type VIII subunit alpha;voltage-gated sodium channel subunit alpha Nav1.6 APPROVED protein-coding ENSG00000196876 HGNC:10596 09006 600702;614306;614558 REVIEWED 1346343 SCNN1D sodium channel, non-voltage-gated 1, delta subunit ENCODES a protein that exhibits ligand-gated sodium channel activity (inferred); sodium channel activity (inferred); INVOLVED IN ion transmembrane transport (inferred); sensory perception of taste (inferred); sodium ion transmembrane transport (inferred); FOUND IN actin cytoskeleton; membrane; plasma membrane; INTERACTS WITH amiloride; lead(0); lead(2+) 1 1 1 p36.3-p36.2 1353752 1364767 - 1215816 1227409 + 1280436 1292029 + 1580863;6480464 12477932;14645214;14702039;14726523;15084585;15308635;15489334;16423824;16710414;16930535;17472699;18073141;18298571;18951889;19359370;19520916;19717556;19812697;19913121;20628086;20631247;21307123;21419751;21562313;21741370;22159085;22505667;23589227;7499195;8661065;8889548 6339 A6NNF7;C9JDY8;F8VWH5;H0Y3F1;P51172 AA617657;AA622685;ABBA01016028;ABBA01016029;AK093239;AK093372;AK127357;AK131558;AK315288;AL162741;AMYH02000089;AMYH02000090;BC036752;BC040882;BC125074;BC125075;BU729671;BX424308;CH471183;DQ898175;DQ898176;EU489064;NM_001130413;NR_037668;U38254 AAC50283;AAH36752;AAI25075;AAI25076;ABI64068;ABI64069;ACA51868;BAC04105;BAD18692;BAG52699;BAG54495;EAW56251;EAW56252;EAW56253;EAW56254;NP_001123885;P51172 Hs.512681 2178209 SHGC-74130 MGC149710;MGC149711;SCNED;dNaCh ENaCd;ENaCdelta;OTTHUMP00000002083;OTTHUMP00000002084;OTTHUMP00000242838;amiloride-sensitive sodium channel subunit delta;delta-ENaC;delta-NaCH;epithelial Na(+) channel subunit delta;nonvoltage-gated sodium channel 1 subunit delta;sodium channel, nonvoltage-gated 1, delta;sodium channel, voltage-gated, type I, delta polypeptide APPROVED protein-coding ENSG00000162572 HGNC:10601 03209 601328 VALIDATED 1319050 SCNM1 sodium channel modifier 1 SCNM1 is a zinc finger protein and putative splicing factor. In mice, Scnm1 modifies phenotypic expression of Scn8a (MIM 600702) mutations (Buchner et al., 2003 [PubMed 12920299]).[supplied by OMIM, Oct 2009] 1 1 1 q21.3 124253808 124256905 + 151138482 151142773 + 151166022 151170297 + 1580863;6480464;8554872 12477932;12920299;14702039;15489334;16189514;16710414;17656373;18482256;23382074;24816145;7566098 79005 Q9BWG6 AA374943;ABBA01049379;ABBA01049380;AI791817;AK056322;AK301644;AL592424;AMYH02001873;AV718162;BC000264;BF669691;BU540926;CD103880;CH471121;NM_001204856;NM_024041;NR_037937 AAH00264;ABM83457;ABM86668;BAB71149;BAG63123;EAW53466;NP_001191785;NP_076946;Q9BWG6 Hs.732060 5015547;5015619;5015861;5022200;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D8S2279;L18426;WIAF-1603 MGC3180 OTTHUMP00000014151;OTTHUMP00000014262 APPROVED protein-coding ENSG00000163156 HGNC:23136 12162 608095 VALIDATED 734263 SCNN1B sodium channel, non-voltage-gated 1, beta subunit Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009] 16 16 16 p12.2-p12.1 22091376 22169881 + 23313591 23392620 + 23302270 23381299 + 737753;1624136;1624161;1624117;1580863;6480464;6907045;7240710;8554872;8699517 10589691;15075188;7954808;8589714 10212229;10404817;10493829;10506918;10642508;10845103;11181995;11244092;11323714;11359767;11375929;11470829;11567041;11802777;11826291;11845306;11863256;11906720;11934701;11997395;12107247;12167593;12180079;12204893;12473861;12477932;12562778;12714866;12876068;14553964;14645214;14761957;14996668;15188166;15198480;15326289;15327619;15328345;15483078;15489334;15596218;15661075;15814530;15853823;16416336;16423824;16432044;16463024;16574660;16579800;16844684;16943574;17241874;17381423;17434346;17460608;17502380;17510235;17560176;17586416;17766193;18004211;18184758;18322022;18398334;18443236;18507830;18639284;18665318;18701608;18990692;19017867;19300301;19344079;19359370;19380724;19462466;19520916;19763606;19913121;19948975;19953087;20106988;20237237;20424473;20519934;20628086;21107496;21307123;21525970;21562341;21654856;21700000;21956615;22207244;22250980;22374202;22526458;22809657;22895453;22940131;23060445;23218889;23594824;23977235;24553299;7490094;7499195;7550319;7762608;8521520;8524790;8601645;8986818;9118951;9169421;9626162;9674649;9794716;9813171 6338 B2R812;H3BQ95;H3BRM4;H3BUQ8;P51168 ABBA01017818;ABBA01017819;ABBA01017820;ABBA01017821;AC008915;AC130452;AF260226;AF260228;AJ005383;AJ005384;AJ005385;AJ005386;AJ005387;AJ005388;AJ005389;AJ005390;AJ005391;AJ005392;AJ005393;AK313192;AMYH02031699;AMYH02031700;AU105979;BC036352;CH471145;DQ402523;FJ515831;L36593;NG_011908;NM_000336;U16023;X87159;XM_005255467 AAA67036;AAA75459;AAH36352;AAK49394;AAL48196;AAL48197;ABD72219;ACE86622;ACE87303;ACS13723;ACS13724;ADR82661;BAG36009;CAA06508;CAA60632;EAW55833;EAW55834;NP_000327;P51168;XP_005255524 Hs.414614 1338541;1738619;2148858;2165843;2217948 D16S2760;D16S3130;RH79175;SCNN1B_3463;STS-X87159 BESC1;SCNEB ENaCb;ENaCbeta;OTTHUMP00000162368;amiloride-sensitive sodium channel subunit beta;amiloride-sensitive sodium channel subunit beta 1;beta-ENaC;beta-NaCH;epithelial Na(+) channel subunit beta;epithelial sodium channel beta-2 subunit;epithelial sodium channel beta-3 subunit;nasal epithelial sodium channel beta subunit;nonvoltage-gated sodium channel 1 subunit beta;sodium channel, nonvoltage-gated 1, beta APPROVED protein-coding ENSG00000168447 HGNC:10600 02861 177200;211400;264350;600760 REVIEWED 1347479 SCO2 SCO2 cytochrome c oxidase assembly protein Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy. [provided by RefSeq, May 2014] 22 22 22 q13.33 34838024 34840895 - 50961997 50964868 - 50523568 50526439 - 1580020;1580863;6480464;7240710;8554872;8699517 10749987 10218584;10493829;10545952;11673586;11751685;11931660;12020273;12477932;12529303;12538779;14994243;15146197;15229189;15461802;15489334;16083427;16091356;16341674;16728594;17189203;17850752;18254779;18332255;18924171;19336478;19353431;19879173;19913121;20139978;20193760;20628086;20864674;21139048;21145461;21150319;21820150;21832049;21833088;21890473;21925769;21963094;22120717;22939629;23222517;23319048;23364397;23443559;23455922;23612020;23643385;23786650;24250222 9997 C9JBU1;O43819 ABBA01042625;AF177385;AL021683;AMYH02038618;BC102024;BC102025;BG392981;BM787182;BQ878572;CN409692;CR456569;NG_016235;NG_021419;NM_001169109;NM_001169110;NM_001169111;NM_005138;U62317 AAB03344;AAF05313;AAI02025;AAI02026;CAA16671;CAG30455;CAK54599;CAK54898;NP_001162580;NP_001162581;NP_001162582;NP_005129;O43819 Hs.180903;Hs.730607 1298301;1681911;1777806;2155787;2219676 D22S685;RH92958;SCO2__5555;UniSTS:50701;WI-11276 CEMCOX1;MGC125823;MGC125825;MYP6;SCO1L OTTHUMP00000196772;OTTHUMP00000196773;OTTHUMP00000196774;OTTHUMP00000196775;SCO cytochrome oxidase deficient homolog 2;cytochrome oxidase deficient homolog 2;myopia 6;protein SCO2 homolog, mitochondrial APPROVED protein-coding ENSG00000130489 HGNC:10604 05042 604272;604377;608908 REVIEWED 1323537 SCOC short coiled-coil protein This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 4 4 4 q31.1 138508468 138633708 + 141178440 141303710 + 140257286 140382556 + 6480464 11303027;12477932;14702039;15146197;16344560;16484223;17207965;20195357;20379614;21139048;21988832;22354037;22558309;24098481;24116125;24250222 60592 Q9UIL1 AA213765;AB015335;ABBA01069976;ABBA01069977;ABBA01069978;ABBA01069979;ABBA01069980;AC093671;AC114771;AF330205;AF448857;AK027797;AK092794;AL133580;AMYH02010208;AMYH02010209;AMYH02010210;BC016511;BC062684;BG151522;BU070009;CH471056;CN367654;DA625782;DA695503;DB204055;DB465370;KF457814;NM_001153446;NM_001153484;NM_001153552;NM_001153585;NM_001153635;NM_001153663;NM_001153690;NM_032547;XM_005263170;XM_006714286 AAH16511;AAH62684;AAK01707;AAP97732;ADQ32078;BAA88116;BAB55375;EAX05102;EAX05103;EAX05104;NP_001146918;NP_001146956;NP_001147024;NP_001147057;NP_001147107;NP_001147135;NP_001147162;NP_115936;Q9UIL1;XP_005263227;XP_006714349 Hs.480815 1648896;1675860;1678825;1686612;1749445;1763459;5022578 D1S1423;D4S2342;RH36024;RH80049;SHGC-111177;SHGC-147167;SHGC-67341 HRIHFB2072 OTTHUMP00000164612;OTTHUMP00000164613;OTTHUMP00000164614;OTTHUMP00000220121;OTTHUMP00000220123;OTTHUMP00000220124;OTTHUMP00000220125;SCOCO;short coiled coil protein APPROVED protein-coding ENSG00000153130 HGNC:20335 18027 REVIEWED 8656920 SCOC-AS1 SCOC antisense RNA 1 4 4 4 q31.1 138534900 138624544 - 141204880 141294546 - 140283726 140373392 - 14702039 100129858 ABBA01069976;ABBA01069977;ABBA01069978;ABBA01069979;ABBA01069980;AC093671;AC114771;AK095554;AMYH02010208;AMYH02010209;AMYH02010210;BU932771;HG497322;KF457814;NR_033939 BAC04571 Hs.660477 ncrna ENSG00000196951 HGNC:50601 VALIDATED 1349372 SCOCP1 short coiled-coil protein pseudogene 1 14 14 14 q23.1 40675512 40677978 + 60625677 60628143 + 60159011 60161425 + 317767 ABBA01018278;AL163853;AMYH02029292;NG_011824 2164822 G36315 pseudo HGNC:20339 INFERRED 732847 SCNN1G sodium channel, non-voltage-gated 1, gamma subunit Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009] 16 16 16 p12 21971795 22005983 + 23194040 23228201 + 23182719 23216880 + 737754;1624147;1580863;6480464;6907045;7240710;8554872;8699517 7550319;8640238 10212229;10391210;10404817;10409621;10642508;10727408;11180614;11244092;11359767;11463765;11802777;11805112;11845306;11906720;12107247;12167593;12473862;12477932;12548396;12562778;12876068;14645214;14996668;15188166;15198480;15326289;15328345;15489334;15596218;15661075;15677482;15702377;15864129;16172412;16416336;16423824;16463024;16574660;16630545;16716084;16844684;17013377;17199078;17241874;17381423;17434346;17460608;17502380;17510235;17560176;17698725;17766193;17998393;18322022;18443236;18498246;18507830;18632802;18665318;18701608;18981180;18990692;19017867;19073825;19300301;19359370;19462466;19561078;19763606;19779464;19913121;19948975;20106988;20376790;20519934;20628086;20953144;21307123;21478478;21562341;21667229;22006290;22167092;22207244;22374202;22526458;22864553;23060445;23136006;23218889;23594824;7490094;7499195;7762608;8521520;8824247;8986818;9169421;9351815 6340 A5X2V1;P51170 ABBA01017824;AC099482;AF356502;AMYH02031694;AMYH02031695;BC059391;BC069652;CH471145;DQ402524;FJ515832;L36592;NG_011909;NM_001039;U35630;U48936;U48937;U53836;U53837;U53839;U53841;U53844;U53845;U53846;U53847;U53848;U53849;U53850;U53852;U53853;X87160;XM_005255469 AAA75460;AAC50217;AAC50737;AAC50744;AAC50745;AAC50747;AAC50749;AAC50752;AAC50753;AAC50754;AAC50755;AAC50756;AAC50757;AAC50758;AAC50760;AAC50761;AAH59391;AAH69652;AAK50910;ABD72220;ACS13725;CAA60633;EAW55837;EAW55838;NP_001030;P51170;XP_005255526 Hs.371727 1768525;2124831 SHGC-61004;SHGC-61048 BESC3;PHA1;SCNEG ENaC gamma subunit;ENaCg;ENaCgamma;OTTHUMP00000162369;amiloride-sensitive epithelial sodium channel gamma subunit;amiloride-sensitive sodium channel gamma-subunit;amiloride-sensitive sodium channel subunit gamma;epithelial Na(+) channel subunit gamma;gamma-ENaC;gamma-NaCH;nonvoltage-gated sodium channel 1 subunit gamma;sodium channel, nonvoltage-gated 1, gamma APPROVED protein-coding ENSG00000166828 HGNC:10602 02862 177200;264350;600761;613071 REVIEWED 1318122 SCP2D1 SCP2 sterol-binding domain containing 1 ASSOCIATED WITH Melanoma (inferred) 20 20 20 p11.23 18868645 18869311 + 18794370 18795036 + 18813726 18814392 + 8554872 11780052;12477932;15489334;16501878 140856 Q6X959;Q9UJQ7 ABBA01054056;AF418568;AF418570;AK130970;AL035563;AMYH02036785;AY248902;BC105121;BC112024;CH471133;HC006832;NM_178483 AAI05122;AAI12025;AAP20053;AAP97287;AAP97289;CBH19222;EAX10224;NP_848578;Q9UJQ7 Hs.112794 1697104;5493213 RH102036;UniSTS:485336 C20orf79;HSD22;MGC138229;dJ1068E13.2 OTTHUMP00000030367;SCP2 sterol-binding domain-containing protein 1;hypothetical protein LOC140856;sterol carrier protein 2-like protein;uncharacterized protein C20orf79 APPROVED protein-coding ENSG00000132631 HGNC:16211 12785 VALIDATED 68543 SCRG1 stimulator of chondrogenesis 1 Scrapie-responsive gene 1 is associated with neurodegenerative changes observed in transmissible spongiform encephalopathies. It may play a role in host response to prion-associated infections. The scrapie responsive protein 1 may be partly included in the membrane or secreted by the cells due to its hydrophobic N-terminus. [provided by RefSeq, Jul 2008] 4 4 4 q34.1 171634399 171645725 - 174309299 174320617 - 173388148 173476214 - 6480464 12477932;12975309;15340161;16188469;16199891;24413464;9516475;9660755 11341 D6RD99;O75711;Q6FGG5 ABBA01070376;AC093849;AC097534;AJ224677;AK312146;AMYH02010516;AX002933;AX002935;AY359040;BC017583;BC067829;CH471056;CR542142;NM_007281;XM_006714075 AAI52792;AAQ89399;BAG35081;CAA12059;CAG46939;EAX04752;EAX04753;EAX04754;NP_009212;O75711;XP_006714138 Hs.7122 1338310;1339077;1648856;1722739;2124019;2135831;5123772 D4S1595;D4S2992;D4S3309;G60307;HSC0SE072;SHGC-59598;SHGC-59607 MGC26468;SCRG-1 OTTHUMP00000219946;scrapie responsive gene 1;scrapie responsive protein 1;scrapie-responsive gene 1 protein;scrapie-responsive protein 1 APPROVED protein-coding HGNC:17036 11932 603163 PROVISIONAL 1351146 SCPEP1 serine carboxypeptidase 1 ENCODES a protein that exhibits serine-type carboxypeptidase activity (ortholog); INVOLVED IN negative regulation of blood pressure (ortholog); positive regulation of vasodilation (ortholog); retinoic acid metabolic process (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; cytosol (ortholog); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; arsenous acid 17 17 17 q22 51517044 51545707 + 55055468 55084129 + 56978107 57006768 + 70518;1580863;6480464;8554872 11447226 12477932;12754519;12975309;14702039;15340161;15489334;17207965;19056867;21890473;21906983;21935400;22863883;24530914 59342 I3L195;I3L2N6;I3L4Z3;I3L4Z9;I3L506;Q9H2J9;Q9HB40 ABBA01041310;AC004584;AC007114;AF113214;AF265441;AF282618;AK027373;AK092928;AK298161;AMYH02033666;AY358559;BC010078;BC072405;CH471109;DC344612;NM_021626;XM_005257557 AAG16692;AAG39285;AAG44699;AAH72405;AAQ88923;ADQ32066;BAB55069;BAG60434;EAW94520;EAW94521;NP_067639;Q9HB40;XP_005257614 Hs.514950 1668083;1688199;2219678 G18002;RH92976;SCPEP1__5557 HSCP1;RISC retinoid inducible serine carboxypeptidase;retinoid-inducible serine carboxypeptidase;serine carboxypeptidase 1 precursor protein protein-coding ENSG00000121064 HGNC:29507 10194 VALIDATED 736324 SCNN1A sodium channel, non-voltage-gated 1 alpha subunit Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009] 12 12 12 p13 8072686 8103776 - 6456009 6486896 - 6346843 6377357 - 1624161;1624117;1580863;5509791;5509790;6480464;6907045;7240710;8554872;8699517 15075188;15734793;21314941;8589714 10212229;10404817;10409621;10447117;10586178;10642508;11244092;11266509;11359767;11675945;11696533;11752024;11756432;11802777;12082592;12107247;12167593;12477932;12562778;12876068;12923071;14556380;14996668;15069064;15169674;15308680;15326289;15328345;15489334;15498559;15596218;15677482;15746174;15755725;15853823;16172422;16344560;16373340;16416336;16423824;16463024;16574660;16844684;16912051;17020471;17170520;17381423;17434346;17460608;17502380;17537777;17596527;17766193;17905853;17932042;18298571;18322022;18355814;18513389;18547339;18632802;18634878;18660489;18665318;18701608;18703878;18801933;18818748;18981174;18990692;19017867;19019335;19131662;19238444;19263529;19300301;19359370;19423540;19462466;19479237;19527514;19541605;19559392;19561078;19617352;19619128;19619703;19720813;19763606;19773279;19858199;19864429;19913121;19925887;19948975;20054153;20078945;20079059;20097829;20098615;20106988;20194130;20406964;20424473;20438785;20484876;20519934;20536507;20577119;20628086;20663296;20675381;20709758;21048031;21084303;21307123;21478478;21562341;21653223;21664233;21667229;21768316;21889619;21893217;21906983;21917531;22127840;22207244;22250980;22374202;22406554;22526458;22573385;22613977;22729284;22776878;22987920;23218889;23297398;23416952;23460285;23523754;23563609;23594824;23645669;23665454;23762408;24043776;24114932;7896277;8023962;8278374;8889548;8986818;9169421;9351815;9575806;9612219;9654208 6337 C5HTZ1;F5GXE6;F5H5F8;J3KPV6;P37088 ABBA01017639;ABBA01017640;ABBA01017641;ABBA01017642;AC005840;AC006057;AF060913;AK025536;AK172792;AK304379;AMYH02025949;AMYH02025950;AY365119;BC006526;BC037417;BC062613;BU680600;CH471116;DB232484;DQ402522;FJ515830;KF455593;L29007;NG_011945;NM_001038;NM_001159575;NM_001159576;U81961;X76180;Z92978 AAA21813;AAC31773;AAC31774;AAD28355;AAH06526;AAH62613;AAQ67341;ABD72218;ACS13719;ACS13720;ACS13721;ACS13722;BAG65217;CAA53773;CAB07505;EAW88803;EAW88804;NP_001029;NP_001153047;NP_001153048;P37088 Hs.591047 1677814;2110723;2172612 RH80869;SCNN1A_3462;STS-X76180 BESC2;ENaCalpha;FLJ21883;SCNN1;alpha ENaC-2;alpha-ENaC;alpha-NaCH ENaCa;OTTHUMP00000238446;OTTHUMP00000238447;OTTHUMP00000238448;OTTHUMP00000238449;OTTHUMP00000238451;SCNEA;amiloride-sensitive epithelial sodium channel alpha subunit;amiloride-sensitive sodium channel subunit alpha;amiloride-sensitive sodium channel subunit alpha 2;epithelial Na(+) channel subunit alpha;nasal epithelial sodium channel alpha subunit;nonvoltage-gated sodium channel 1 subunit alpha;sodium channel, nonvoltage-gated 1 alpha APPROVED protein-coding ENSG00000111319 HGNC:10599 02575 264350;600228;613021 REVIEWED 731255 SCN5A sodium channel, voltage-gated, type V, alpha subunit The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 3 p21 4152 5536 + 38589553 38691164 - 38548062 38649673 - 735235;1358572;1580008;1580502;1580863;6480464;6484225;6484224;7240710;7240708;8554872;8699517 11786529;12208804;12574143;15840476;19471098;19584134;23091085 10200053;10377081;10471492;10508990;10532948;10590249;10618304;10627139;10690282;10911008;10940383;10973849;11136691;11234013;11289718;11410597;11710892;11743032;11748104;11804990;11807557;11823453;11889015;11901046;11960580;11997281;12051963;12106943;12193783;12358675;12401812;12429735;12431447;12454206;12471205;12477932;12522116;12569159;12574983;12639704;12673799;12820704;1309946;14500339;14523039;14654377;14720472;14760488;14961552;14985827;15051636;15057319;15161528;15174051;15176425;15217910;15277732;15306732;15316014;15338453;15367556;15466643;15504354;15534720;15548568;15579534;15665061;15671429;15746172;15805167;15808832;15828879;15851119;15851227;15851320;15863661;15910881;15996170;16054936;16061744;16061851;16115203;16132053;16169070;16188595;16207794;16254012;16266370;16301357;16325048;16344400;16382098;16414944;16415376;16426410;16453024;16469732;16505387;16616735;16632547;16637659;16643374;16674915;16728661;16731473;16771953;16818214;16847056;16857961;16864729;16873405;16877553;16880338;16930557;16980337;17060380;17070808;17075016;17141278;17161064;17185997;17198989;17205354;17210839;17210841;17227473;17275752;17331104;17363383;17496023;17510181;17534376;17544529;17548620;17556197;17592081;17605181;17675083;17697823;17854786;17897635;17901361;17905336;17928536;17967977;18040022;18048769;18065446;18071069;18088563;18156160;18184654;18245395;18252757;18355654;18362431;18368697;18378609;18393272;18408010;18426444;18436145;18451998;18452871;18452875;18456723;18503232;18591664;18596570;18616619;18657562;18674739;18676988;18690024;18708744;18752142;18803136;18848812;18929244;18929331;18977767;19026623;19027780;19056759;19074138;19075524;19083750;19121811;19149796;19167345;19171938;19224165;19251209;19255801;19272188;19279232;19302788;19305408;19305409;19305639;19318916;19322600;19324308;19340536;19345130;19376164;19377070;19389651;19406494;19412328;19419784;19549036;19551538;19632628;19661462;19666841;19698999;19706159;19716085;19719504;19745168;19808398;19808432;19808477;19808664;19822451;19841300;19843919;19843921;19845816;19861310;19913121;19948241;20004937;20009079;20025708;20031634;20038812;20062060;20062063;20090423;20102920;20108749;20110800;20116193;20129283;20147455;20174578;20201937;20219395;20301308;20301486;20301690;20339117;20372843;20379614;20384651;20386770;20395683;20400777;20403459;20470418;20539757;20586826;20609320;20618077;20628086;20651255;20724705;20812931;20875080;20920651;21048329;21063070;21070882;21076026;21076409;21109022;21126620;21139048;21164104;21167004;21167176;21170089;21185499;21273195;21288276;21321465;21325150;21347284;21385947;21393430;21397042;21454796;21498565;21552533;21596231;21609529;21705349;21824921;21840964;21859973;21906983;21937582;21996251;22028457;22064211;22067152;22090166;22092558;22101522;22117993;22277643;22331908;22370247;22400069;22426227;22460359;22461438;22486578;22514276;22560601;22562703;22633666;22682427;22685113;22710484;22721569;22722661;22739120;22766342;22795782;22802584;22826127;22842345;22876298;22882672;22899775;22951351;22952230;22980924;22984773;22999724;23008441;23036686;23123192;23133651;23139255;23168001;23200271;23237912;23257389;23277474;23283979;23308164;23321620;23359282;23376825;23414114;23424222;23463857;23465283;23503384;23538271;23541953;23558814;23571586;23612926;23631430;23656992;23661717;23692053;23714088;23788249;23791817;23823228;23840796;23853484;23872634;23893162;23902689;23912080;23936059;23955615;23995044;24112685;24140416;24167619;24227891;24295898;24363796;24463578;24613995;24642470;24703920;24762805;25102755;7651517;7842012;7889574;7956363;8541846;8567977;8621719;8917568;9412493;9506831;9521325;9686753 6331 A3EY21;E9PG18;E9PHB6;H9KVD2;K4DIA1;Q14524;Q86V90 AB158469;AB158470;AB208866;ABBA01024818;ABBA01024819;AF482988;AJ310886;AJ310887;AJ310888;AJ310889;AJ310890;AJ310891;AJ310892;AJ310893;AJ310894;AJ310895;AJ310896;AMYH02006571;AMYH02006572;AP006241;AY038064;AY148488;BC051374;BC140813;BC144621;BU845010;CH471055;DQ086162;DQ784809;EF092292;EF092293;EF092294;EF092295;EF179185;EF629346;EF629347;GU447319;GU447320;KC858891;M77235;NG_008934;NM_000335;NM_001099404;NM_001099405;NM_001160160;NM_001160161;NM_198056;XM_006713282;XM_006713283;XM_006713284 AAA58644;AAH51374;AAI40814;AAI44622;AAK74065;AAN61120;AAO91669;AAZ06802;ABN05288;ABN50061;ABN50062;ABN50063;ABN50064;ABQ01244;ABR15763;ABR15764;ACX32327;AGR66220;BAD12084;BAD12085;BAD92103;CAC84525;CAC84529;CAC84530;CAC84531;CAC84532;CAC84533;CAC84534;CAC84535;CAC84536;EAW64540;EAW64541;EAW64542;NP_000326;NP_001092874;NP_001092875;NP_001153632;NP_001153633;NP_932173;Q14524;XP_006713345;XP_006713346;XP_006713347 Hs.517898 1740221;1744735;1745573;1745585;1745587;1761233;1762541;1764951;2110719;2145013;5492265;7186368 D3S1641;D3S4190;GDB:555574;GDB:624525;GDB:624564;GDB:624573;SCN5A_3457;SHGC-145242;SHGC-146356;SHGC-148512;Scn3a CDCD2;CMD1E;CMPD2;HB1;HB2;HBBD;HH1;ICCD;IVF;LQT3;Nav1.5;PFHB1;SSS1;VF1 OTTHUMP00000209279;OTTHUMP00000209280;OTTHUMP00000209281;OTTHUMP00000209282;OTTHUMP00000209283;OTTHUMP00000209284;OTTHUMP00000226268;cardiac sodium channel alpha subunit;cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit;sodium channel protein cardiac muscle subunit alpha;sodium channel protein type 5 subunit alpha;sodium channel protein type V alpha subunit;sodium channel protein type V subunit alpha;voltage-gated sodium channel subunit alpha Nav1.5 APPROVED protein-coding ENSG00000183873 HGNC:10593 02543 113900;272120;600163;601144;601154;603829;603830;608567;614022 REVIEWED 1348666 SCRN1 secernin 1 This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 7 7 7 p14.3-p14.1 29949107 30019299 - 29959719 30029905 - 29920103 29990289 - 1580863;6480464 10942595;11921445;12168954;12221138;12477932;12853948;15489334;16630140;17207965;19019082;20039278;20379614;20381070;21139048;21385630;21906983;22360420;22863883;23000965;23251661;24816145;8724849;9847074 9805 B4DIV7;B8ZZP4;C9J7U9;C9K052;Q12765 AA910381;AACC02000087;AB071705;ABBA01056806;ABBA01056807;AC004912;AC007285;AK289514;AK293462;AK294891;AK295172;AK295713;AK295800;AMYH02015449;AMYH02015450;AMYH02015451;AX961980;BC040492;CH471073;D83777;DC307846;DC370097;HH836336;JA039643;KF458422;NM_001145513;NM_001145514;NM_001145515;NM_014766;XM_005249918 AAH40492;AAQ96874;ADQ32965;BAA12106;BAE91926;BAF82203;BAG56957;BAG57983;BAG58182;BAG58557;BAG58619;CAF06501;CBX33278;CCA61719;EAL24458;EAW93926;EAW93927;EAW93928;NP_001138985;NP_001138986;NP_001138987;NP_055581;Q12765;XP_005249975 Hs.520740 1660776;1661694;1712304;1786376;1854924;2168335;2186982 D7S2271E;D7S370;G54061;RH25406;RH66311;SHGC-171947;SHGC-56008 KIAA0193;SES1 OTTHUMP00000122627;OTTHUMP00000202313;OTTHUMP00000202315;OTTHUMP00000225306;secernin-1 APPROVED protein-coding ENSG00000136193 HGNC:22192 15304 614965 REVIEWED 1317110 SCRN2 secernin 2 ENCODES a protein that exhibits dipeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH copper atom; copper(0); copper(2+) sulfate 17 17 17 q21.32 42367851 42371503 - 45915047 45918699 - 47837681 47841333 - 6480464 12221138;12477932;15489334;17207965;19056867;21044950 90507 J3KS57;J3KT79;J3QL71;J3QQM9;J3QR84;J3QRJ1;Q96FV2 ABBA01041146;AC003665;AK290646;AK303835;AK308989;AMYH02033529;AW452880;BC002980;BC010408;BC017317;CH471109;CN480733;NM_001145023;NM_138355;XM_005257776;XM_006722164 AAH02980;AAH10408;AAH17317;ABM83735;ADQ32863;BAF83335;BAH14063;EAW94790;EAW94791;EAW94792;NP_001138495;NP_612364;Q96FV2;XP_005257833;XP_006722227 Hs.239718 1652222 WI-16780 Ses2 secernin-2 protein-coding ENSG00000141295 HGNC:30381 10213 614966 VALIDATED 733061 SCP2 sterol carrier protein 2 This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010] 1 1 1 p32 51680710 51805264 + 53392901 53517289 + 52927229 53051617 + 1580863;6480464;6907045;7240710;8699517;8554872 10341103;10407148;10412765;10529196;10567245;10585412;10623549;10706581;10856712;11591437;12356316;12477932;12641450;1347505;14563822;14661971;1483685;15182174;15449949;15489334;16756494;1703300;1718316;17207965;17418802;1755959;18029348;18465878;19020914;19322201;19584060;19598235;19913121;19946888;20178365;20628086;20656919;20677014;20877624;21078624;21139048;21375735;21890473;21906983;22505724;22939629;2294101;23000965;24501781;7654720;7698762;7788802;8004106;8063752;8243660;8300590;8640304;9048555 6342 B2R761;E9PLD1;H0YCB0;H0YD06;H0YEU8;H0YF61;P22307;Q59HG9 AA664009;AB208789;ABBA01074746;ABBA01074747;ABBA01074748;ABBA01074749;ABBA01074750;AC099677;AK294631;AK295214;AK303400;AK308105;AK312856;AL445183;AMYH02001032;AMYH02001033;AMYH02001034;BC005911;BC067108;BG028932;BG432929;BX537618;BX537619;CA867670;CH471059;DB459183;DC330171;M55421;M75883;M75884;NG_012211;NM_001007098;NM_001007099;NM_001007100;NM_001007250;NM_001193599;NM_001193600;NM_001193617;NM_002979;S52450;U11313;XM_005271103;XM_005271104 AAA03557;AAA03558;AAA03559;AAB24921;AAB41286;AAH05911;AAH67108;ADQ32600;BAD92026;BAG35708;BAG57810;BAG58208;BAG64455;EAX06760;EAX06761;EAX06762;NP_001007099;NP_001007100;NP_001007101;NP_001007251;NP_001180528;NP_001180529;NP_001180546;NP_002970;P22307;XP_005271160;XP_005271161 Hs.476365 1678779;1684744;1711444;2146697;2158484;2171691 G17313;RH40056;RH79910;S52450;SCP2;SHGC-74838 DKFZp686C12188;DKFZp686D11188;NLTP;NSL-TP;SCP-2;SCP-CHI;SCP-X;SCPX OTTHUMP00000010488;OTTHUMP00000231766;OTTHUMP00000231767;OTTHUMP00000231768;OTTHUMP00000231769;OTTHUMP00000231770;OTTHUMP00000231772;OTTHUMP00000231773;OTTHUMP00000231774;OTTHUMP00000231776;OTTHUMP00000234662;non-specific lipid-transfer protein;nonspecific lipid-transfer protein;propanoyl-CoA C-acyltransferase;sterol carrier protein X APPROVED protein-coding ENSG00000116171 HGNC:10606 01700 184755;613724 REVIEWED 1314736 SCRT1 scratch family zinc finger 1 This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs. The encoded protein may promote neural differention and may be involved in cancers with neuroendocrine features. [provided by RefSeq, Jul 2013] 8 8 8 q24.3 141716494 141734723 - 145554228 145559943 - 144330565 144336281 - 1580863;6480464 11181995;11274425;11687288;12477932;15489334;20043117 83482 Q9BWW7 ABBA01005213;ABBA01005214;ABBA01005215;AC142402;AC233992;AF205589;AL512683;AMYH02018999;AMYH02019000;AY014996;BC014675;BC024967;BC093806;BX420136;CH471162;NM_031309 AAH14675;AAI68377;AAK01467;EAW82125;NP_112599;Q9BWW7 Hs.31746 2220550 UniSTS:484395 DKFZp547F072;SCRT;ZNF898;hScrt OTTHUMP00000228987;scratch 1;scratch homolog 1 zinc finger protein;scratch homolog 1, zinc finger protein;transcriptional repressor scratch 1 APPROVED protein-coding ENSG00000261678 HGNC:15950 16166 605858 REVIEWED 1348701 SCRT2 scratch family zinc finger 2 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (inferred); INVOLVED IN negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (ortholog); negative regulation of transcription from RNA polymerase II promoter (ortholog); FOUND IN nuclear chromatin (ortholog); INTERACTS WITH silicon dioxide; paracetamol (ortholog); potassium dichromate (ortholog) 20 20 20 p13 737069 751655 - 642240 656823 - 661596 676179 - 1580863;6480464 11274425;11780052 85508 Q9NQ03 ABBA01053753;ABBA01053754;ABBA01053755;ABBA01053756;AL121758;AMYH02036559;AMYH02036560;AY129025;CH471133;NM_033129 AAI72245;AAM98768;EAX10660;EAX10661;NP_149120;Q9NQ03 Hs.355284 1335293;1337700;1683581;1693412;1711130;1723045;1751863;1776461 AL034529;D20S105;D20S117;G60473;SHGC-105848;SHGC-3386;SHGC-86223;Z94655 FLJ43353;ZNF898B OTTHUMP00000161402;scratch 2 protein;scratch homolog 2 zinc finger protein;scratch homolog 2, zinc finger protein;transcriptional repressor scratch 2 APPROVED protein-coding ENSG00000215397 HGNC:15952 15305 VALIDATED 1321471 SCRIB scribbled planar cell polarity protein This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 8 8 8 q24.3 141185992 141210452 - 144873090 144897890 - 143790920 143815379 - 2293492;6480464 17226800 11027293;12168954;12477932;14681682;14710229;15144186;15182672;15231747;15261375;15302935;15345747;15489334;15649318;15761153;15775968;15806148;15975580;16103886;16137684;16344308;16482544;16611247;16619250;16964243;16965391;17043654;17081983;17509663;17855372;18042258;18513328;18641685;18661220;18716323;18793635;19041750;19071123;19386766;19555689;19615732;19738201;19875381;19959811;20360068;20622900;20702615;20936341;20939435;21086040;21139048;21145461;21489588;21549346;21701506;21849460;21890473;21906983;21965329;22053931;22095531;22179838;22623428;22792261;23000965;23359326;23602568;23730214;23774808;23813956;23922697;24140112;24211266;24527800;24639526;24662921;24816145;25036637;8590280 23513 A0PJK8;H0YCG0;H0YDF9;Q14160 ABBA01005240;AC105219;AF240677;AF271734;AF318352;AI829609;AMYH02018948;AY062238;BC009490;BC014632;BC026045;BC036905;BC044627;BC063590;CH471162;D63481;KF458881;NG_030583;NM_015356;NM_182706 AAH09490;AAH14632;AAH44627;AAI46322;AAL38976;AAL55859;AAP88017;AAP88018;BAA09768;EAW82196;EAW82197;EAW82198;NP_056171;NP_874365;Q14160 Hs.436329 2126488;2135632;5016419 RH25368;RH70666;WI-19511 CRIB1;SCRB1;SCRIB1;hScrib OTTHUMP00000228640;OTTHUMP00000228641;OTTHUMP00000228643;Vartul;protein scribble homolog;scribble;scribbled homolog APPROVED protein-coding ENSG00000180900 HGNC:30377 06984 607733 REVIEWED 1344696 SCO1 SCO1 cytochrome c oxidase assembly protein Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 10614503 10631739 - 10583649 10600885 - 10680332 10697568 - 1599513;1580863;6480464;8554872 11013136 10218584;10545952;11027508;11579424;12477932;15229189;15489334;15659396;16091356;16344560;16520371;16735468;17189203;18458339;19295170;19336478;19465909;19913121;20628086;20864674;20877624;21139048;21890473;23345593;24068947;2543907;2835635;8619474;8889548;9110174;9878253 6341 J3QL56;J3QR42;O75880 ABBA01054979;AC002347;AF026852;AF131816;AF183424;AF295386;AK074588;AK098826;AK315595;AMYH02032969;BC015504;BM981070;BM994602;CH471108;DA571370;KC877631;NG_008228;NM_004589;XM_005256751 AAD08641;AAD20051;AAG09693;AAG23836;AAH15504;ABM82531;ABM85724;BAG37967;BAG51973;EAW89997;NP_004580;O75880;XP_005256808 Hs.14511 1655474;1655476;2108445;2125814;2141542;5123937 A006I06;G20832;HSC2RC052;RH78578;SCO1_8613;WI-14254 SCOD1 OTTHUMP00000160897;OTTHUMP00000160898;SCO cytochrome oxidase deficient homolog 1;protein SCO1 homolog, mitochondrial APPROVED protein-coding ENSG00000133028 HGNC:10603 04705 603644 REVIEWED 1312871 SCRN3 secernin 3 ENCODES a protein that exhibits dipeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; formaldehyde 2 2 2 q31.1 168873893 168907739 + 175260457 175294303 + 174395729 174429575 + 6480464;8554872 11238933;12221138;12477932;14702039;15489334;15815621;16344560;21139048;21890473;21988832;8889548 79634 C9JID8;C9JNS3;F8W0M9;F8WBX0;H9KVC8;Q0VDG4;Q0VDG5 AA227619;ABBA01062187;ABBA01062188;AC018470;AF279776;AK026795;AK057912;AK295357;AK296558;AMYH02005272;AMYH02005273;AMYH02005274;BC031821;BC119684;BC119685;BG492502;BM725063;CH471058;CK301138;DA760451;NM_001193528;NM_024583;XM_005246853;XM_005246854;XM_005246855;XM_005246856;XM_005246857 AAH31821;AAI19685;AAI19686;AAY24217;BAB15555;BAG58323;BAG59179;EAX11140;EAX11141;EAX11142;EAX11143;NP_001180457;NP_078859;Q0VDG4;XP_005246910;XP_005246911;XP_005246912;XP_005246913;XP_005246914 Hs.470679 1694442;1694582;1722095;1847053;2123575;2132476;2170448 D2S1626E;G20279;G42934;G43281;G60089;RH35807;WI-15486 FLJ23142;MGC149597;SES3 OTTHUMP00000163170;OTTHUMP00000205169;secernin-3 protein-coding ENSG00000144306 HGNC:30382 18028 614967 VALIDATED 736213 SCTR secretin receptor The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008] 2 2 2 q14.1 113523544 113607897 - 120197419 120282028 - 119439843 119524452 - 729676;1580863;6480464;6907045;8554872 1646711 10437774;10537138;11517171;12036966;12477932;1335692;14645499;14702039;15123239;15670850;15706223;16192632;16344560;16819820;16935383;17678920;17711922;18223557;18240029;18401761;18680717;19886671;19904746;21851058;21988832;22565418;22964305;23168245;3186683;7612008;7700244;7782300;7864894;8390245;8575789;8579602;9440501;9453500;9506976 6344 P47872;Q8IV17 AB065660;ABBA01045924;ABBA01045925;AC013275;AK055551;AK314638;AMYH02004648;AY462218;BC035757;CH471103;DA930115;NG_029904;NM_002980;U13989;U20178;U28281;XM_005263730;XM_006712683;XM_006712684 AAA64949;AAA87556;AAC50106;AAH35757;AAR25625;AAY14741;BAC05886;BAG37200;EAW95219;NP_002971;P47872;XP_005263787;XP_006712746;XP_006712747 Hs.42091 1657231;1677736;1751003;1773526 RH68868;RH79136;SHGC-104924;STS-U28281 SCT-R;SR OTTHUMP00000162098;pancreatic secretin receptor APPROVED protein-coding ENSG00000080293 HGNC:10608 01628 182098 REVIEWED 1319121 SCUBE1 signal peptide, CUB domain, EGF-like 1 This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011] 22 22 22 q13 27509622 27649802 - 43599229 43739394 - 43203223 43343388 - 1580863;6480464;8554872 10591208;11087664;11597177;12270931;12477932;15028280;15234972;16753137;20962850;22874483;23136397;23149075;23220851;23382691;23632301;23918034;8889548 80274 A0JP65;B1AH90;H0Y4Y9;Q6ZS56;Q86TI6;Q8IWY4 ABBA01017904;ABBA01017905;ABBA01017906;AF525689;AK127719;AMYH02038473;BC047916;BC127263;BG901065;BM714681;BQ183912;BU101852;BX280767;CH471138;DN991996;DR003420;KF457466;KF457469;NG_029056;NM_173050;XM_005261752;Z82214;Z99756 AAH47916;AAI27264;AAI56732;AAN77133;BAC87098;EAW73295;EAW73296;EAW73297;EAW73298;EAW73299;EAW73300;EAW73301;EAW73302;NP_766638;Q8IWY4;XP_005261809 Hs.133995 2136413 D22S1681 OTTHUMP00000198230;signal peptide, CUB and EGF-like domain-containing protein 1;signal peptide-CUB domain-EGF-related 1 APPROVED protein-coding HGNC:13441 18029 611746 REVIEWED 1625822 SCX scleraxis basic helix-loop-helix transcription factor ENCODES a protein that exhibits bHLH transcription factor binding; E-box binding; protein heterodimerization activity; INVOLVED IN transcription, DNA-templated; BMP signaling pathway (ortholog); cell differentiation (ortholog); FOUND IN nucleus; transcription factor complex; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 8 8 8 q24.3 141665524 141666939 + 145321517 145323045 + 144265078 144268483 + 6480464 10775504;11585810;12617822;12837285;15338228;16421571;17129431;19087640;19362560;19828133;21424732;21988170;22796342;24157418;9050988 642658 Q7RTU7 ABBA01005217;AC110280;AC145291;BG230566;BK000280;CB048390;CD672767;NM_001080514;XM_006716616 DAA00239;NP_001073983;Q7RTU7;XP_006716679 Hs.553250;Hs.723088 SCXA;SCXB;bHLHa41;bHLHa48 basic helix-loop-helix transcription factor scleraxis;class A basic helix-loop-helix protein 41;class A basic helix-loop-helix protein 48;class II bHLH protein scleraxis;scleraxis homolog A;scleraxis homolog B APPROVED protein-coding ENSG00000260428 HGNC:32322 609067 VALIDATED 1343319 SCZD1 schizophrenia disorder 1 ASSOCIATED WITH Schizophrenia (inferred) 7240710 2903449 6377 1334915;1335129;1337197;7185107;7185327;7186056 D5S1473;D5S406;D5S408;D5S433 HGNC:10649 181500;181510 735506 SCT secretin Secretin belongs to the glucagon family. This protein is an endocrine hormone and its major site of production is the endocrine S cells located in the proximal small intestinal mucosa. The release of active secretin is stimulated by either fatty acids or an acidic pH in the duodenum. This hormone stimulates the secretion of bicarbonate-rich pancreatic fluids and has also been shown to regulate the growth and development of the stomach, small intestine, and pancreas. Secretin deficiency has been implicated in autistic syndrome, suggesting that the hormone could have a neuroendocrine function in addition to its role in digestion. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 691460 692319 - 626313 627173 - 626195 627898 - 729921;1580863;6480464;7240710 2315322 10576771;10764961;10807420;11060443;11278902;11814635;12036966;12133828;12160732;15118068;15610158;15706223;16888194;16888198;18240029;18280672;18566919;18577758;19239625;19372104;19850743;19904746;20398908;21597914;21851058;22964305;23064014;23233532;7782300;8579602;9440501 6343 P09683 ABBA01015197;AC138374;AF244355;AMYH02024146;AMYH02024147;AP006284;CH471158;NM_021920;XM_006718272 AAG31443;AAI46572;AAI52726;EAX02368;NP_068739;P09683;XP_006718335 Hs.632324 5492505;5493049 UniSTS:481377;UniSTS:484039 OTTHUMP00000164437;prepro-secretin APPROVED protein-coding HGNC:10607 08354 108720;108721;112310;150250;182099;272460 REVIEWED 1343640 SCYL2 SCY1-like 2 (S. cerevisiae) ENCODES a protein that exhibits receptor binding; INVOLVED IN endosome to lysosome transport; negative regulation of canonical Wnt signaling pathway; positive regulation of clathrin-mediated endocytosis; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic vesicle (inferred); endosome (inferred); Golgi apparatus (inferred); INTERACTS WITH all-trans-retinoic acid; copper atom; copper(0) 12 12 12 q23.1 100326815 100399182 + 100660918 100735502 + 100267140 100341724 + 6480464;8554872 10718198;12477932;12777385;14702039;15231748;15489334;15809293;1589293;16903783;16914521;17587408;17620599;19643732;20467438;21139048;21182205;22268729;22939629;23047923;23084401;23341777;23667531;25027693 55681 F8VPW3;F8VSC5;H0YI32;H0YIK6;Q6P3W7 AB037781;ABBA01053257;ABBA01053258;ABBA01053259;AC026110;AC253559;AK000936;AK001597;AK024274;AK026160;AK027551;AK125091;AK292980;AL133044;AMYH02027056;BC011525;BC012387;BC063798;CH471054;NM_017988;XM_005269018;XM_006719497 AAH12387;AAH63798;BAA91433;BAA91778;BAA92598;BAB14869;BAB55194;BAF85669;EAW97630;EAW97631;EAW97632;EAW97633;EAW97634;EAW97635;EAW97636;NP_060458;Q6P3W7;XP_005269075;XP_006719560 Hs.506481 2133518;2135228;2150324 BCD1539;RH48161;WI-17588 CVAK104;FLJ10074;KIAA1360 OTTHUMP00000243486;OTTHUMP00000243487;SCY1-like protein 2;coated vesicle-associated kinase of 104 kDa protein-coding ENSG00000136021 HGNC:19286 07642 PROVISIONAL 1316462 SCYL1 SCY1-like 1 (S. cerevisiae) This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13 62618826 62632460 + 65292537 65306182 + 65525066 65538711 + 6480464 10843802;11042159;11118629;12036289;12477932;12783284;15342556;15459234;15489334;15504359;15963946;16261899;16713569;16903783;17081983;18029348;18556652;19198626;19946888;19958622;20209057;20505071;20548946;20598683;21832049;21988832;22504420;22570270;22623531;22863883;22939629;24361335;24769208;24816145;8889548 57410 E9PK59;E9PPN3;E9PS17;H0YCI6;H0YDH0;Q96KG9 AB047077;AB051427;AB051428;ABBA01024113;AF225424;AF255613;AF297709;AK302198;AK314945;AMYH02024961;AP000769;BC009967;BC069233;BP281963;BU728709;CH471076;NM_001048218;NM_020680;XM_005274118;XM_005274120;XM_005274121 AAF81422;AAG09726;AAG17902;AAH09967;AAH69233;BAB55454;BAB55458;BAB55459;BAG63559;EAW74395;EAW74396;EAW74397;EAW74398;EAW74399;EAW74400;NP_001041683;NP_065731;Q96KG9;XP_005274175;XP_005274177;XP_005274178 Hs.238839 1769455;1770095;1773880;2176772;2181563;2190901 D11S1209;G38718;MARC_10501-10502:1000139918:1;RH65764;RH78678;WI-15382 GKLP;HT019;MGC78454;NKTL;NTKL;P105;TAPK;TEIF;TRAP N-terminal kinase-like protein;OTTHUMP00000232618;OTTHUMP00000232619;OTTHUMP00000232620;OTTHUMP00000232621;OTTHUMP00000232622;OTTHUMP00000232632;OTTHUMP00000232737;SCY1-like protein 1;coated vesicle-associated kinase of 90 kDa;likely ortholog of mouse N-terminal kinase-like protein;telomerase regulation-associated protein;telomerase transcriptional element-interacting factor;telomerase transcriptional elements-interacting factor;teratoma-associated tyrosine kinase APPROVED protein-coding ENSG00000142186 HGNC:14372 06414 607982 REVIEWED 1352842 SCUBE2 signal peptide, CUB domain, EGF-like 2 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 5-fluorouracil 11 11 11 p15.3 9160716 9235000 - 9041047 9113150 - 9019500 9091603 - 1580863;6480464;8554872 11528127;12270931;12477932;14702039;15489334;18676680;19170196;19369267;19480626;19625176;19692168;20379614;21652720;23279374;24053619;24084593;24213532 57758 H0YD28;H0YDN3;H0YEB3;H0YEI5;Q9NQ36 ABBA01061201;AC079296;AF086390;AJ400877;AK092153;AK092553;AK123039;AK131552;AL133990;AMYH02024303;AMYH02024304;AMYH02024305;AMYH02024306;BC111690;CH471064;DN995815;KF459545;NM_001170690;NM_020974;XM_005253032;XM_005253033;XM_005253034;XM_005253035;XM_005253036;XM_005253037;XM_006718268 AAI11691;BAC85521;BAD18686;BAG52571;CAB92285;EAW68602;EAW68603;NP_001164161;NP_066025;Q9NQ36;XP_005253089;XP_005253090;XP_005253091;XP_005253092;XP_005253093;XP_005253094;XP_006718331 Hs.523468 1339885;1721351;1765411;1798130;2147095;2177573;5491467 D11S4188;G59675;MARC_14461-14462:1010436954:1;RH45205;RH71184;SCUBE2_2595;SHGC-148899 CEGP1;Cegb1;Cegf1;FLJ16792;FLJ35234;MGC133057 OTTHUMP00000225263;OTTHUMP00000225264;OTTHUMP00000230760;signal peptide, CUB and EGF-like domain-containing protein 2 protein-coding ENSG00000175356 HGNC:30425 18030 611747 VALIDATED 1603625 SCYL3 SCY1-like 3 (S. cerevisiae) This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012] 1 1 1 q24.2 142931586 142972865 - 169822215 169863100 - 169853074 169893959 - 6480464;8554872 11076863;12477932;12651155;15003124;15489334;15489336;16344560;16381901;16710414;18029348;19064610;20379614;21139048;21188226;21890473;21906983;22053931;23000965 57147 Q8IZE3;X6RHX1 AA844031;ABBA01027945;AF540957;AK292507;AK304481;AL031297;AL117233;AMYH02002117;AMYH02002118;AY144493;BC014662;BX647352;CH471067;DA449356;DB285397;NM_020423;NM_181093;XM_006711465;XM_006711466;XM_006711467 AAH14662;AAN23123;AAN41656;ABM84394;ABM87343;BAF85196;BAG65292;CAB55300;CAL38717;EAW90867;EAW90868;NP_065156;NP_851607;Q8IZE3;XP_006711528;XP_006711529;XP_006711530 Hs.435560;Hs.443551 1670457;1699940;1752833;1847091 RH103578;SHGC-106696;SHGC-75868;SHGC-75871 PACE-1;PACE1;RP1-97P20.2 OTTHUMP00000034140;OTTHUMP00000034141;OTTHUMP00000034142;SCY1-like protein 3;ezrin-binding partner PACE-1 (PACE-1);ezrin-binding protein PACE-1;protein-associating with the carboxyl-terminal domain of ezrin APPROVED protein-coding ENSG00000000457 HGNC:19285 07459 608192 REVIEWED 1350306 SCZD2 schizophrenia disorder 2 ASSOCIATED WITH Schizophrenia (inferred) 7240710 6378 1298156;1298202 D11S2002;D11S2371 HGNC:10650 181500;603342 1346514 SCZD3 schizophrenia disorder 3 ASSOCIATED WITH Schizophrenia (inferred) 7240710 7647789 6365 1337587;1337794;1340812 D6S260;D6S277;D6S296 HGNC:10651 181500;600511 1342478 SCZD10 schizophrenia disorder 10 (periodic catatonia) ASSOCIATED WITH Schizophrenia, Catatonic (inferred) 7240710 11001582 63944 1335361;1336480;1337014;1341495;7187979 D15S1036;D15S118;D15S128;D15S165 HGNC:17339 605419 1345019 SCZD5 schizophrenia disorder 5 ASSOCIATED WITH Schizophrenia (inferred) 7240710 9226366 6380 HGNC:10653 181500 1312575 SCUBE3 signal peptide, CUB domain, EGF-like 3 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN protein heterooligomerization; protein homooligomerization; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell surface; INTERACTS WITH all-trans-retinoic acid; diazinon; trichostatin A 6 6 6 p21.3 36736150 36772575 + 35181824 35220856 + 35214047 35253079 + 6480464;8554872 12270931;12477932;14574404;14702039;15234972;15489334;18391951;20546612;21441952;23420440;24084593;24390364 222663 Q8IX30;Q8NAV8 ABBA01038221;ABBA01038222;AF452494;AK092010;AK092062;AK123742;AK291218;AMYH02013535;AMYH02013536;AY639608;BC052263;BX537875;CH471081;CR936607;CR936873;NM_152753;XM_005248943;XM_005248946;XM_005248947;XM_005248948;Z97832 AAH52263;AAN76808;AAU08347;ACE86924;ACE87611;BAC03789;BAC03798;BAF83907;CAD97875;CAI56752;CAI59785;EAX03810;EAX03811;EAX03812;EAX03813;NP_689966;Q8IX30;XP_005249000;XP_005249003;XP_005249004;XP_005249005 Hs.12923 1644120;1655398;1655400;1670496;2130958 D6S2187;RH46635;RH46803;RH69466;SGC30588 CEGF3;DKFZp686B09105;DKFZp686B1223;DKFZp686D20108;FLJ34743 CUB and EGF containing protein 3;CUB domain and EGF-like repeat containing 3;OTTHUMP00000016250;signal peptide, CUB and EGF-like domain containing protein 3;signal peptide, CUB and EGF-like domain-containing protein 3 protein-coding ENSG00000146197 HGNC:13655 18031 614708 PROVISIONAL 1353691 SCZD4 schizophrenia disorder 4 ASSOCIATED WITH Hyperprolinemia (inferred); Schizophrenia (inferred) 7240710 8178837 6379 HGNC:10652 239500;600850 1348335 SCZD6 schizophrenia disorder 6 ASSOCIATED WITH Schizophrenia (inferred) 7240710 8400 1334607;1334904;1337367;1338138;1338538;1339967;1341270;1342354 D8S1106;D8S136;D8S1771;D8S1819;D8S264;D8S439;D8S532;D8S560 HGNC:10654 181500;603013 1601802 SCXA scleraxis homolog A (mouse) ENCODES a protein that exhibits bHLH transcription factor binding; E-box binding; protein heterodimerization activity; INVOLVED IN transcription, DNA-templated; BMP signaling pathway (ortholog); cell differentiation (ortholog); FOUND IN nucleus; transcription factor complex 8 q24.3 145490603 145492131 + 6480464 10775504;11585810;12617822;12837285;15338228;16421571;17129431;19087640;19828133;21424732;21988170;22796342;9050988 100129885 AC110280;BK000280;NM_001008271 DAA00239;NP_001008272;Q7RTU7 Hs.723088 SCX;SCXB;bHLHa41 OTTHUMP00000228469;bHLHa48;basic helix-loop-helix transcription factor scleraxis;class A basic helix-loop-helix protein 41;class A basic helix-loop-helix protein 48;class II bHLH protein scleraxis protein-coding HGNC:24312 609067 PROVISIONAL 1348629 SCZD7 schizophrenia disorder 7 ASSOCIATED WITH Schizophrenia (inferred) 7240710 8401 1335883;1336755;1337275;1337630;1339782;1341201;5121121;7186705;7186954 D13S1293;D13S1315;D13S168;D13S170;D13S174;D13S317;D13S779;D13S793 HGNC:10655 181500;603176 1347535 SD segregation distortion (Drosophila) 6381 HGNC:10657 1351973 SCZD8 schizophrenia disorder 8 ASSOCIATED WITH Schizophrenia (inferred) 7240710 9758604 8806 1336669;1337457 D18S450;D18S451 HGNC:10656 181500;603206 1343330 SCZD9 schizophrenia disorder 9 ASSOCIATED WITH Schizophrenia (inferred) 7240710 10784452 51785 HGNC:17338 181500;604906 1349630 SDAD1P1 SDA1 domain containing 1 pseudogene 1 8 8 8 p21.2 25199029 25201537 - 26236446 26239152 - 26378930 26381636 - 157489 ABBA01005571;AC022911;AMYH02017660;NG_006994 pseudo HGNC:31403 INFERRED 4889254 SDAD1P4 SDA1 domain containing 1 pseudogene 4 13 13 13 4904376 4906281 + 23841375 23843280 + 23267236 23269141 + 100419955 ABBA01007872;AL160256;AMYH02027690;NG_024899 pseudo HGNC:39261 INFERRED 6481501 SDAD1P3 SDA1 domain containing 1 pseudogene 3 3 3 33813455 33813787 + 33771963 33772295 + 100873858 ABBA01024899;AC112220;AMYH02006523;NG_032239 pseudo HGNC:39260 INFERRED 1353066 SDAD1 SDA1 domain containing 1 INVOLVED IN ribosomal large subunit biogenesis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleolus; INTERACTS WITH bis(2-chloroethyl) sulfide; cyclosporin A; paracetamol 4 4 4 q21.1 74171578 74212624 - 76871064 76912115 - 75949906 75990962 - 737633;6480464;8554872 12477932 11483580;11790298;14702039;14976432;15607425;15635413;16344560;17353931;18029348;19322201;20020773;20379614;20834067;21890473;22751105;22939629;23000965;23455922;24778252;24816145;9847074 55153 B4DT66;D6RC74;D6RIR5;E7EW05;F8W8T7;Q9NVU7 ABBA01063353;ABBA01063354;AC110615;AC112719;AC115628;AF132198;AK001360;AK022683;AK024031;AK300074;AK307540;AMYH02009501;AMYH02009502;BC048351;BC054040;BC063797;BC107895;BJ989617;BU619826;CH471057;CR749574;DB047277;DN602051;NM_001288983;NM_001288984;NM_018115;XM_005263102;XM_005263105 AAG35544;AAH54040;AAH63797;AAI07896;AAI68370;BAA91648;BAB14177;BAB14790;BAG61878;CAH18368;EAX05761;EAX05762;NP_001275912;NP_001275913;NP_060585;Q9NVU7;XP_005263159;XP_005263162 Hs.632604 1337326;1670709;1676338;1689071;2151349;2169257 D4S2453;D4S3042;G33649;RH48675;RH98663;SHGC-59431 DKFZp686E22207;FLJ10498;hSDA OTTHUMP00000160605;OTTHUMP00000160606;OTTHUMP00000219217;SDA1 domain-containing protein 1;nucleolar protein 130;protein SDA1 homolog protein-coding ENSG00000198301 HGNC:25537 10214 VALIDATED 1343030 SDC3 syndecan 3 The protein encoded by this gene belongs to the syndecan proteoglycan family. It may play a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism. Allelic variants of this gene have been associated with obesity. [provided by RefSeq, Oct 2009] 1 1 1 p35.2 29598020 29607292 - 31342313 31381480 - 30869466 30908633 - 1580863;1357925;6480464;6484113;6907045;7240710;8554872 15189116 10460248;10497173;11024024;11152476;11527150;11567105;11751872;11968010;12477932;12885232;14504279;15489334;1556152;16052590;16157597;16674815;16710414;16817962;16982797;17018662;17368428;17620599;18040049;18093920;18599487;18716876;19820907;19822079;21050724;21200028;21555518;22721673;23351331;23383108;7690138;8175719;8344959;8570206;8662884;9089390;9111037;9342064;9388509;9455484;9553134 9672 D3DPN2;O75056 AB007937;ABBA01023495;AF248634;AK295698;AL049426;AL445235;AMYH02000666;BC013974;BQ887307;CH471059;NG_013371;NM_014654 AAK39969;ABM82826;ABM86012;BAA32313;BAG58546;EAX07636;EAX07637;EAX07638;NP_055469;O75056 Hs.158287 1698854 RH102992 SDCN;SYND3 N-syndecan;OTTHUMP00000040577;syndecan 3 (n-syndecan);syndecan neural type;syndecan proteoglycan 3;syndecan-3 APPROVED protein-coding HGNC:10660 01719 186357;601665 REVIEWED 1349419 SDC4P syndecan 4 pseudogene 22 22 22 q12.2 14676991 14677457 - 30877277 30877743 - 30481290 30481756 - 12652906;22747683 376844 ABBA01055299;AC004832;AF520746;AMYH02038217;NR_001580 Hs.534651 pseudo HGNC:18903 PROVISIONAL 6893194 SDCBP2-AS1 SDCBP2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 20 20 20 1402396 1455725 + 1305987 1359379 + 1325343 1378735 + 6480464;8554872 12477932;14702039;16344560 100507495 ABBA01053769;ABBA01053770;ABBA01053771;AK055993;AL109658;AL136531;AMYH02036565;BC034773;DA094549;DA274215;DB454162;HG511126;HG511128;HG511129;KF456783;NR_040047;NR_040048;NR_040049 Hs.655785 1653597;1655308;1740657;1758131;1846548;2126829 D20S1003;RH68384;SGC33430;SGC35429;SHGC-147477;STS-X52220 RP11-314N13.4 ncrna ENSG00000234684 HGNC:44314 VALIDATED 7175589 SDCBPP1 syndecan binding protein (syntenin) pseudogene 1 10 10 10 p15.1 6263812 6265396 - 6335063 6336647 - 6293100 6294684 - 100128930 ABBA01034765;AL359960;AMYH02022060;NG_011666 pseudo HGNC:44684 INFERRED 1352231 SDAD1P2 SDA1 domain containing 1 pseudogene 2 20 20 20 p12.2 10436429 10438464 + 10366427 10368463 + 10385685 10388625 + 400836;404669 ABBA01053932;AL034430;AMYH02036698;NG_021986 1689071 RH48675 pseudo HGNC:31404 INFERRED 7175684 SDCBPP2 syndecan binding protein (syntenin) pseudogene 2 8 8 8 q13.3 66852441 66854495 + 70855156 70856521 + 69942921 69944286 + 100129960 ABBA01041930;AC090574;AMYH02018161;NG_030275 pseudo HGNC:44686 INFERRED 7175935 SDCBPP3 syndecan binding protein (syntenin) pseudogene 3 X X X p11.4 44889689 44890579 - 40749900 40750790 - 40890647 40891537 - 100131656 ABBA01046762;AC092268;AMYH02039195;NG_022592 2146407;2146409 RH47142;SGC32650 pseudo HGNC:44687 INFERRED 1317056 SDCBP2 syndecan binding protein (syntenin) 2 The protein encoded by this gene contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing proteins mediate cell signaling and the organization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 organization and cell division. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Read-through transcription also exists between this gene and the upstream FKBP1A (FK506 binding protein 1A, 12kDa) gene, as represented in GeneID:100528031. [provided by RefSeq, Sep 2011] 20 20 20 p13 1386949 1406180 - 1290553 1309879 - 1309909 1329235 - 633988;1580863;6480464;8554872 11152476 11102519;11780052;12477932;14702039;15342556;15489334;15961997;16189514;16344560;16712791;16884951;19056867;21988832;22623796;22721673;24250222;8619474;8889548;9110174 27111 Q9H190 AA514519;AA907131;ABBA01053769;ABBA01053770;AF131809;AF159228;AJ292244;AJ292245;AK022318;AK296577;AL136531;AMYH02036565;BC002727;BI599848;BM987490;BP261525;BU684857;CB147569;CB154525;CH471133;DB018804;KF456783;NG_029926;NM_001199784;NM_015685;NM_080489 AAD20049;AAF80369;AAH02727;BAG59197;CAC21573;CAC21716;EAX10639;EAX10640;NP_001186713;NP_056500;NP_536737;Q9H190 Hs.657015 2126556;2135939;5022588 D5S1597E;SHGC-37152;Z94646 FLJ12256;SITAC18;ST-2 OTTHUMP00000029961;OTTHUMP00000029962;OTTHUMP00000029963;OTTHUMP00000029964;SITAC;syndecan-binding protein 2;syntenin-2 APPROVED protein-coding ENSG00000125775 HGNC:15756 18032 REVIEWED 1343667 SDCBP syndecan binding protein (syntenin) The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 8 8 8 q12 55458752 55488443 + 59465566 59495419 + 58553169 58582860 + 1580863;6480464;6484113 10230395;10473577;10770943;11152476;11179419;11432873;11498591;11891216;12037664;12202822;12241528;12403354;12477932;12597860;12643545;12679023;12775419;15014045;15081807;15126321;15231748;15254681;15276154;15371445;15489334;15518882;16034076;16169070;16196087;16322237;16502470;17081065;17451681;17666427;18234474;18256285;18832467;18839981;19056867;19228696;19592421;19654410;19738201;20145126;20228839;20233700;21139048;21359963;21569759;21828040;21890473;21906983;21949238;21986941;21987572;21988832;22190034;22201728;22267972;22349701;22412018;22535526;22623428;22721673;22938480;23000965;23066033;23233738;23533663;23873690;24250222;24305713;24457600;24637612;24662291;24722188;24749734;24816145;25144756;9391086;9511750;9883737;9920925 6386 B4DHN5;E9PBU7;G5EA09;O00560 ABBA01041789;AC068522;AF000652;AF006636;AK128645;AK295198;AK298697;AK300647;AK312274;AMYH02018033;BC013254;BC113674;BC113676;BC143915;BC143916;BG111210;BG772269;BU160865;CH471068;NM_001007067;NM_001007068;NM_001007069;NM_001007070;NM_005625;U83463;XM_005251280 AAB51246;AAB97144;AAC52050;AAI13675;AAI13677;AAI43916;AAI43917;ADR82910;BAG35204;BAG58197;BAG60855;BAG62335;EAW86812;EAW86813;EAW86814;EAW86815;EAW86816;NP_001007068;NP_001007069;NP_001007070;NP_001007071;NP_005616;O00560;XP_005251337 Hs.200804 1657934;1682964;1852772;1852774;2146407;2146409;5021163;5091004;5113506 D8S1955;RH16388;RH47142;RH64949;RH91764;SGC32650;SHGC-35930;SHGC-83;STS-G07282 MDA-9;MDA9;ST1;SYCL;TACIP18 OTTHUMP00000226412;OTTHUMP00000226413;OTTHUMP00000226414;OTTHUMP00000226415;OTTHUMP00000226416;OTTHUMP00000226417;OTTHUMP00000226418;melanoma differentiation associated protein-9;melanoma differentiation-associated protein 9;pro-TGF-alpha cytoplasmic domain-interacting protein 18;scaffold protein Pbp1;syndecan-binding protein 1;syntenin-1 APPROVED protein-coding ENSG00000137575 HGNC:10662 03741 602217 REVIEWED 1314253 SDCCAG3 serologically defined colon cancer antigen 3 FOUND IN cytoplasm (inferred); INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; cobalt dichloride; copper(2+) sulfate 9 9 9 q34.3 109811312 109819899 - 139296374 139305054 - 136401922 136410602 - 6480464 12477932;14702039;15388255;16169070;16332174;17353931;19322201;21139048;21297633;21832049;21890473;21906983;21988832;22118674;23108400;23128233;23383273;23443559;23455922;24255178;9610721 10807 B5MDD7;H7C331;Q96C92 AA742964;ABBA01022707;ABBA01022708;AF039688;AK001296;AL559847;AL592301;AMYH02021900;AY129014;AY349357;BC014515;BM549484;BQ723499;CH471090;NM_001039707;NM_001039708;NM_006643;XM_005266050;XM_005266051 AAC18037;AAH14515;AAM98757;AAQ56721;ABM84009;ABM87348;BAA91607;EAW88228;EAW88229;EAW88230;EAW88231;NP_001034796;NP_001034797;NP_006634;Q96C92;XP_005266107;XP_005266108 Hs.94300 2153066;2165067 RH70466;STS-H69662 NY-CO-3 OTTHUMP00000022576;OTTHUMP00000022577;OTTHUMP00000022578;OTTHUMP00000022582;antigen NY-CO-3 protein-coding ENSG00000165689 HGNC:10667 15307 VALIDATED 730877 SDC4 syndecan 4 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in intracellular signaling. The encoded protein is found as a homodimer and is a member of the syndecan proteoglycan family. This gene is found on chromosome 20, while a pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008] 20 20 20 q12 40662456 40685588 - 43953928 43977064 - 45325288 45348424 - 1580863;2312328;2311707;2312325;6480464;6484113;6907045 11372670;14633120;15001228 10497173;10911369;11024024;11456484;11549250;11567105;11780052;11801740;11805099;11889131;11916978;12011116;12241528;12377772;12477932;12493766;12509413;12571249;12885232;14637022;14652650;14670076;1500433;15033938;15489334;15572366;15731100;15819887;15968398;16007225;16087677;16157597;16253987;16319082;16636895;16817962;16822948;16982797;17545042;17870067;17879962;17901052;18029348;18093920;18158320;18342939;18499669;18638267;18775505;19199708;19322201;19350579;19519784;19538537;19632304;19684582;19695308;19696445;19821490;19822079;19875451;19913121;20229236;20398359;20485444;20607801;20628086;20639201;20929862;20953189;21036168;21139048;21252093;21414405;21430259;21482826;21906983;21949132;21988832;22164265;22268118;22351752;22531343;22569333;22623531;22721673;23374111;23374155;23525101;23576453;23844358;23948417;24558194;24632200;24942878;7626103;7690138;7916598;8019004;8125298;8570206;8621465;8797100;9111037;9342064;9556568;9582338;9660868 6385 B4E1S6;P31431 ABBA01052660;AK222695;AK223243;AK303964;AK312507;AL021578;AMYH02037149;BC030805;CH471077;CR542045;CR542074;D13292;D79206;NM_002999;X67016 AAH30805;ABM81644;ABM84824;BAA02550;BAA19613;BAD96415;BAD96963;BAG35408;BAG64888;CAA47406;CAG46842;CAG46871;EAW75860;EAW75861;EAW75862;NP_002990;P31431 Hs.632267 1694626;1698272;1712236;1722051;1796724;1850738;2126987;2131177 G43350;G54026;G59912;RH102672;RH48325;SDC4_251;WI-11633;WI-7527 MGC22217;SYND4 OTTHUMP00000031788;amphiglycan;ryudocan amphiglycan;ryudocan core protein;syndecan 4 (amphiglycan, ryudocan);syndecan proteoglycan 4;syndecan-4 APPROVED protein-coding ENSG00000124145 HGNC:10661 08366 600017 REVIEWED 1349476 SDCCAG3P1 serologically defined colon cancer antigen 3 pseudogene 1 18 18 18 q21.32 54395254 54396342 - 57677217 57678305 - 60009985 60011073 - 388478 ABBA01056175;AC090377;AMYH02034844;NG_005510 SDCCAG3L APPROVED pseudo HGNC:29375 INFERRED 1344755 SDCCAG8 serologically defined colon cancer antigen 8 This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010] 1 1 1 q43 216706118 216951200 + 243419307 243663393 + 243255434 243500091 + 6480464;8699517;7240710;8554872 11042152;12477932;12559564;14654843;14702039;15146197;15489334;19626040;19913121;20056178;20301537;20379614;20421936;20628086;20835237;21926974;22095114;22190034;22614287;22626039;22895009;23974872;24166486;24250222;9610721 10806 Q86SQ7;S4R323 ABBA01047215;ABBA01047216;ABBA01047217;AC092782;AC092806;AC096539;AF039690;AF161348;AF250731;AK023586;AK297105;AK299212;AK299249;AMYH02003063;AMYH02003064;AMYH02003065;AMYH02003066;AMYH02003067;BC015867;BC032454;BC041942;BC045832;CH471148;CN336494;DC326670;NG_027811;NM_006642;XM_005273013;XM_005273016;XM_005273018;XM_005273021;XM_005273022;XM_005273023;XM_006711727;XM_006711728;XM_006711729;XM_006711730;XM_006724964;XM_006724965;XM_006724966;XM_006724967;XM_006724968;XM_006724969;XM_006724970;XM_006724971;XM_006724972;XM_006724973 AAC18039;AAF28908;AAH32454;AAH45832;AAO27830;BAG59616;BAG61251;BAG61280;EAW77084;EAW77085;EAW77086;EAW77087;EAW77088;EAW77089;EAW77090;NP_006633;Q86SQ7;XP_005273070;XP_005273073;XP_005273075;XP_005273078;XP_005273079;XP_005273080;XP_006711790;XP_006711791;XP_006711792;XP_006711793;XP_006725027;XP_006725028;XP_006725029;XP_006725030;XP_006725031;XP_006725032;XP_006725033;XP_006725034;XP_006725035;XP_006725036 Hs.591530 1686108;1765903;1781576;1851672;1857026;2126885;2144329;2176214;5022200;5022450;5037552;5118674 AL009623;AL009684;D10S275;D11S3538;D1S1904E;D8S2279;G27428;L18426;RH12417;RH92199;SHGC-148050;SHGC-149315 BBS16;CCCAP;CCCAP SLSN7;HSPC085;NPHP10;NY-CO-8;SLSN7;hCCCAP OTTHUMP00000037913;antigen NY-CO-8;centrosomal colon cancer autoantigen protein APPROVED protein-coding ENSG00000054282 HGNC:10671 10215 613524;613615 REVIEWED 1316372 SDF2 stromal cell-derived factor 2 The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splicing results in both coding and non-coding variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011] 17 17 17 q11.2 23834634 23847960 - 26975374 26989207 - 28648356 28662189 - 1580863;6480464 12107413;12477932;15231747;15489334;15576338;19479237;19513569;19615732;22190034;8918255 6388 K7ELH6;K7ELI9;Q6IBU4;Q99470 ABBA01015050;ABBA01015051;AC005726;AC010761;AK310890;AMYH02033225;AW026433;BC000500;BC001406;BQ056236;BT006709;CD673481;CH471159;CR456708;D50645;NM_006923;NR_045585 AAH00500;AAH01406;AAP35355;ABM82916;ABM86106;BAA09312;CAG32989;EAW51121;EAW51122;EAW51123;EAW51124;NP_008854;Q99470 Hs.514036 1680908;1681791;1689131;2219680 RH68278;RH79803;RH80441;SDF2_3858 FLJ17932;SDF-2 OTTHUMP00000163531 APPROVED protein-coding ENSG00000132581 HGNC:10675 04243 602934 REVIEWED 730864 SDC1 syndecan 1 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-1 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-1 expression has been detected in several different tumor types. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same protein. [provided by RefSeq, Jul 2008] 2 2 2 p24.1 20262845 20287481 - 20400558 20425194 - 20200797 20225433 - 1580863;1643125;1643127;1643128;1643129;1643133;1357925;2311712;6480464;6484113;6907045;8554872 11522680;14704229;15189116;16622173;16810465;17403197;9237025 10497173;10506830;11024024;11168765;11179419;11567105;11830493;11877089;12091355;12144130;12464176;12477932;12660231;12749851;12824007;12879463;12885232;12902511;12904296;12920224;12947106;12975379;1339431;1442271;14521955;14630925;14637022;14645569;14701864;14744776;14972511;15126321;15292202;15297422;15383330;15459490;15479743;15489334;15648090;15728209;15743035;15770719;15886501;15902740;16007225;16020957;16132527;16157597;16247452;16286510;16341674;1644217;16636895;1664683;16720645;16773719;16778379;16817962;16840194;16857657;16884912;16945147;16982797;17149710;17314405;17339423;17413980;17431390;17455248;17579341;17625591;18006945;18029348;18064305;18093920;18190591;18378436;18386024;18413760;18450428;18450755;18542065;18657535;18694404;18957427;18976975;18997617;19010933;19020713;19029267;19056867;19073610;19107206;19126645;19228696;19251947;19255147;19305494;19351365;19420730;19450993;19456850;19473447;19581738;19596856;19632304;19661268;19696445;19735958;19802384;19822079;19859083;19860843;19866343;19875451;20008145;20013319;20036233;20081059;20083849;20097882;20193112;20200931;20204274;20237901;20307537;20361982;20398359;20430722;20471559;20477813;20598296;20683626;20736897;20927321;20971705;21139048;21148276;21257720;21265098;21317913;21320038;21327984;21334435;21414405;21430259;21454203;21463121;21623993;21630196;2173154;21731601;21757697;21772125;21832049;21886795;21898481;21906983;21957484;21963094;21987572;22024722;22102278;22150439;22237752;22238310;22298773;22308310;22338054;22351752;22418956;22573479;22629140;22672327;22673509;22680042;22686587;22714920;22745764;22766978;22899717;22905270;22936802;22939629;22994707;23066085;23144729;23206733;2324102;23289672;23331867;23408834;23431957;23504321;23511033;23545927;23546957;23570784;23576506;23728345;23729443;23824909;23888783;23988031;23991032;24029663;24045542;24392029;24424718;24529757;24549646;24656090;24982376;2519615;7592855;7592967;7690138;7959737;8118875;8125298;8163535;8175719;8570206;8889548;9050911;9089390;9111037;9294130;9342064;9548182;9565572;9566955;9660868;9792716;9857223 6382 AAB21434;AAB23935;E9PHH3;F8WCX9;H7C1K4;P18827 ABBA01018478;ABBA01018479;AC104792;AJ551176;AK222739;AK299385;AK313974;AMYH02003364;BC008765;BM785035;BM910157;CB321970;CH471053;J05392;NM_001006946;NM_002997;X60306;XM_005262620;XM_005262621;XM_005262622;XM_006712060;Z48199 AAA60605;AAB21434;AAB23935;AAH08765;AAX93151;ABM84191;ABM87594;BAD96459;BAG61371;CAA42851;CAA88235;CAD80245;EAX00828;EAX00829;EAX00830;EAX00831;NP_001006947;NP_002988;P18827;XP_005262677;XP_005262678;XP_005262679;XP_006712123 Hs.224607;Hs.665958 2124763;2142582;2161931 RH16622;RH17406;RH67771 CD138;SDC;SYND1 CD138 antigen;OTTHUMP00000115942;heparan sulfate proteoglycan fibroblast growth factor receptor;syndecan;syndecan proteoglycan 1;syndecan-1 1643262;1643271 BW207_H;BW214_H APPROVED protein-coding ENSG00000115884 HGNC:10658 01718 186355 REVIEWED 731601 SDF4 stromal cell derived factor 4 This gene encodes a stromal cell derived factor that is a member of the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. [provided by RefSeq, Sep 2011] 1 1 1 p36.33 1416207 1431366 + 1152288 1167447 - 1216908 1232067 - 6480464 10648803;12477932;14702039;15231748;15489334;16303743;17207965;17342744;17442889;18355758;18854154;19199708;19513569;19615732;19773279;19913121;19946888;20628086;21145461;21832049;21890473;21900206;21906983;21988832;22190034;23000965;23266954;23455922;23602568;24250222;8125298;8609160;9254016 51150 G3V1E2;H0Y3T6;Q9BRK5 ABBA01016023;AF132749;AF153686;AF178986;AK000717;AK027277;AK055331;AK075352;AK126927;AK222521;AK223079;AK299810;AK315517;AL162741;AMYH02000083;BC006211;BC007625;BC008917;BC011244;BC022375;CH471183;DC405714;L79912;NG_030007;NM_016176;NM_016547 AAD51612;AAF44350;AAH06211;AAH07625;AAH08917;AAH11244;AAH22375;AAL40084;AAL75950;ADQ32709;BAB55012;BAC11563;BAD96241;BAD96799;BAG37898;BAG61683;EAW56271;EAW56272;EAW56273;EAW56274;EAW56275;EAW56276;EAW56277;NP_057260;NP_057631;Q9BRK5 Hs.42806 2185123 SHGC-74127 Cab45;RP5-902P8.6;SDF-4 45 kDa calcium-binding protein;OTTHUMP00000001752;OTTHUMP00000001753;OTTHUMP00000001754;OTTHUMP00000001755;calcium binding protein;stromal cell-derived factor 4 APPROVED protein-coding ENSG00000078808 HGNC:24188 13113 614282 REVIEWED 2307455 SDHAF1 succinate dehydrogenase complex assembly factor 1 The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010] 19 19 19 q13.12 33200270 33201400 + 36486090 36487220 + 35995188 35996318 + 6480464;7240710;8554872;8699517 12477932;19328947;19465911;22995659;23174333;8889548 644096 A6NFY7 ABBA01018776;AF038458;AI954026;AMYH02035998;BC007205;BC064605;BC069054;BC137516;BC137517;BM695501;NG_016869;NM_001042631 A6NFY7;AAI37517;AAI37518;NP_001036096 Hs.356460 1854611;2122496 RH65900;WI-16129 LYRM8 LYR motif containing 8;LYR motif-containing protein 8;SDH assembly factor 1;succinate dehydrogenase assembly factor 1, mitochondrial APPROVED protein-coding ENSG00000205138 HGNC:33867 252011;612848 REVIEWED 734386 SDC2 syndecan 2 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008] 8 8 8 q22-q23 93691860 93810255 + 97505579 97624037 + 96493351 96611809 + 1580863;2311706;6480464;6484113;6907045 14976204 10375199;10446183;10497173;10704377;10734053;10772816;11018053;11023673;11024024;11161813;11356864;11373281;11567105;11580899;12036876;12055189;12200971;12477932;12676536;12708751;12860416;12860968;12885232;1315572;14527339;14674716;14702039;14999018;15183101;15297422;15489334;15846369;15936998;16157597;16253987;16303743;16440330;16817962;16982797;16997272;17035092;17261577;17457918;17516498;17623663;18032547;18093920;18256285;18342939;18599487;18716610;19073173;19086053;19179614;19288017;19322201;19383343;19450993;19641225;19786981;19822079;19913121;19962968;20006588;20379614;20485444;20628086;20683009;20929862;21036168;21139048;21148276;21289173;21317913;21482826;21569759;21813734;21963094;21987572;21988832;22170634;22227189;22238310;22437834;22471946;22493442;22550000;22558273;22745764;22881146;23000965;23297089;23333331;23455922;23736812;23747112;23975428;24424718;24447566;24613844;24736615;2523388;2745554;2948951;7524669;7551962;7690138;8157651;8187643;8570206;8832397;8889549;8997243;9111037;9244383;9259269;9342064;9391086;9660868;9869645 6383 E5RHU3;E5RJB8;E7ESK6;E9PBI9;P34741 AA114891;ABBA01037493;ABBA01037494;ABBA01037495;AK025488;AK074530;AK097839;AK130131;AK298643;AK298939;AK300067;AMYH02018456;AMYH02018457;AP003477;AP003548;BC030133;BC049836;CH471060;CK825252;J04621;KC877279;NM_002998;XM_005251019;XM_005251020;XM_006716614 AAA52701;AAH30133;AAH49836;ADR82698;BAB15150;BAG51965;BAG53540;BAG60818;BAG61873;BAH12908;EAW91755;EAW91756;NP_002989;P34741;XP_005251076;XP_005251077;XP_006716677 Hs.1501;Hs.598247 1342338;1646757;1670238;1703336;1788754;2130451;2139952;2145473;2178944;2191409 D8S1018;MARC_21367-21368:1023204259:1;RH12464;RH129475;RH16471;RH45426;SHGC-32567;SHGC-36183;SHGC-52456;SHGC-68575 CD362;HSPG;HSPG1;SYND2 OTTHUMP00000227223;OTTHUMP00000227224;OTTHUMP00000227225;OTTHUMP00000227226;OTTHUMP00000227227;OTTHUMP00000227228;cell surface-associated heparan sulfate proteoglycan 1;fibroglycan;heparan sulfate proteoglycan 1, cell surface-associated;heparan sulfate proteoglycan core protein;syndecan proteoglycan 2;syndecan-2 APPROVED protein-coding ENSG00000169439 HGNC:10659 00803 142460 REVIEWED 1603354 SDE2 SDE2 telomere maintenance homolog (S. pombe) INTERACTS WITH arsane; arsenic atom; benzo[a]pyrene 1 1 1 q42.12 199361495 199378155 - 226170403 226187099 - 225982702 225999398 - 6480464 12477932;14702039;16712791;17643375;19322201;21139048;21333630;21906983;23443559 163859 Q6IQ49 ABBA01009661;AK092701;AK127780;AK291008;AK308441;AL133288;AMYH02002802;BC016290;BC071563;BX648319;CB140971;CH471098;NM_152608;XM_005273080;XR_247021 AAH71563;BAC03952;BAC87130;BAF83697;EAW69768;EAW69769;NP_689821;Q6IQ49;XP_005273137 Hs.520192 1717113;1852132;2129402;5014023;5015961;5037552 AL010050;D13S1553;D15S1477;D8S2279;RH121475;SHGC-76446 C1orf55;FLJ35382;RP4-671D7.1;dJ671D7.1 OTTHUMP00000035611;OTTHUMP00000035612;UPF0667 protein C1orf55;hypothetical protein LOC163859;protein SDE2 homolog APPROVED protein-coding ENSG00000143751 HGNC:26643 08180 VALIDATED 1606278 SDHAF2 succinate dehydrogenase complex assembly factor 2 This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010] 11 11 11 q12.2 58533118 58549759 + 61197514 61214239 + 61430125 61446767 + 6480464;7240710;8554872;8699517 12477932;16169070;18029348;19628817;19915015;20071235;20301715;20877624;20972721;21224366;21890473;21906983;22939629;23174333;23291190;23380393;23788249;23983127;24414418;24712571;24816145;7814027;8981955 54949 F5H4T4;F5H8E2;F8W679;M0QY91;M0QYN2;M0R060;Q9NX18 ABBA01003199;AI039966;AI660205;AK000494;AMYH02024878;AP003108;BC002331;CH471076;NG_023393;NM_017841 AAH02331;BAA91204;EAW73951;NP_060311;Q9NX18 Hs.313247 1340658;1647346;1657453;1725671;2122559 D11S1647;D11S2295E;G62044;RH79179;WI-12356 C11orf79;FLJ20487;PGL2;SDH5;hSDH5 OTTHUMP00000238097;OTTHUMP00000238130;OTTHUMP00000238131;OTTHUMP00000238508;SDH assembly factor 2;paraganglioma or familial glomus tumors 2;succinate dehydrogenase assembly factor 2, mitochondrial;succinate dehydrogenase subunit 5, mitochondrial APPROVED protein-coding HGNC:26034 07915 601650;613019 REVIEWED 1604191 SDHAP1 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 INTERACTS WITH methyl methanesulfonate 3 3 3 q29 195919829 195943696 - 195686792 195717150 - 195959921 195990279 - 6480464 12477932;14702039 255812 ABBA01017565;ABBA01033703;ABBA01033704;AC024937;AC245464;AF088032;AK299148;BC071730;NR_003264 BAH12959 Hs.566872;Hs.596261 1651077;1685696;1689546;5024615;5096024 G33146;RH12738;RH63773;RH76040;RH93551 SDHAL1;SDHALP1 APPROVED pseudo ENSG00000185485 HGNC:32455 PROVISIONAL 1351623 SDHAP2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 INTERACTS WITH formaldehyde 3 3 3 q29 195939225 195943696 - 195384910 195415742 + 195658039 195688871 + 6480464 10737800;12477932;14702039;16344560 727956 ABBA01017565;AC069513;AC233280;AK057553;AK074764;AK316025;AMYH02008474;BC053551;BC062438;BC064564;BC073879;BE712485;BQ445981;DA457940;HG496547;HG496548;HG496549;HG496550;HG496552;HG496553;HG496554;HG496557;LK937734;NR_003265 BAH14396 Hs.596261 1651077;1674442;1689546;1701250;1768811;1768813;5016447;5024615;5096024;5125769 A002C12;G19921;G33146;RH104253;RH12738;RH45269;RH63773;RH76040;SHGC-31380;STS-T71278 AC069513.3;SDHAL2;SDHALP2 APPROVED pseudo ENSG00000242086 HGNC:27408 VALIDATED 1320780 SDF2L1 stromal cell-derived factor 2-like 1 FOUND IN endoplasmic reticulum (inferred); membrane (inferred); INTERACTS WITH afimoxifene; arsenous acid; cisplatin 22 22 22 q11.21 5814082 5816128 + 21996542 21998588 + 21642253 21644299 + 6480464 10591208;11162531;12477932;12975309;15461802;15489334;16396496;18781797;19710015;20811636;21139048;21145461;22190034;22268729;22863883;23444373;24457600;24654937 23753 Q9HCN8 AB043007;ABBA01055056;AF277316;AMYH02038120;AP000553;AY359118;BC132849;BC132851;BM560445;CH471095;CR456570;NM_022044 AAI32850;AAI32852;AAI39838;AAK69113;AAQ89476;BAB18277;CAG30456;CAK54600;CAK54899;EAW59467;NP_071327;Q9HCN8 Hs.303116 1649011;2126132 RH41995;RH48055 OTTHUMP00000198554;OTTHUMT00000075032;PWP1-interacting protein 8;SDF2-like 1;SDF2-like protein 1;dihydropyrimidinase-like 2;stromal cell-derived factor 2-like protein 1 protein-coding ENSG00000128228 HGNC:10676 09614 607551 VALIDATED 1343437 SDHAP3 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 5 5 5 p15.33 1609475 1631727 - 1572072 1594646 - 1571957 1594531 - 12477932 728609 ABBA01034201;AC091849;AMYH02010766;BC129998;BC150557;BC150558;NR_003263 Hs.379186 2131504;2174988;2217950 A002R37;SDHA_2868;STS-L21936 MGC179707;SDHACL;SDHAL pseudo HGNC:18781 VALIDATED 4110650 SDHCP1 succinate dehydrogenase complex, subunit C pseudogene 1 18 18 18 63380332 63380840 + 66533728 66535395 + 68866491 68868158 + 100422600 ABBA01056275;AC096708;AMYH02034921;NG_026341 pseudo HGNC:31734 INFERRED 7241610 SDHCP2 succinate dehydrogenase complex, subunit C pseudogene 2 10 10 10 q23.32 87622942 87623558 + 93878402 93879656 + 92118645 92119899 + 100128302 ABBA01021917;AL158040;AMYH02023527;NG_029201 pseudo HGNC:45177 INFERRED 7244039 SDHCP3 succinate dehydrogenase complex, subunit C pseudogene 3 2 2 2 24007119 24007621 + 24166693 24167948 + 23943823 23945078 + 100422591 ABBA01045096;AC066692;AMYH02003410;NG_023680 pseudo HGNC:45178 INFERRED 1318463 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008] 1 1 1 p36.1-p35 15667559 15703013 - 17345217 17380665 - 17018722 17054170 - 1624151;1580863;1300048;2306881;6480464;6907134;6907045;7240710;8554872;8699517 11404820;16143825;21771581 11897817;12000816;12054535;12213855;12362046;12477932;12612654;12618761;14512425;14685938;14718574;15087120;15231747;15328326;15489334;15961414;16314641;16322339;16405730;16472267;16710414;16751257;16912137;17102080;17143317;17200167;17298303;17298551;17308434;17599579;17639058;17652212;17667967;17804857;17943698;17967865;18029348;18057081;18310297;18362451;18382370;18419787;18519664;18551016;18624398;18678321;18728283;19029228;19064571;19075037;19189136;19208735;19215943;19223516;19258401;19261994;19343621;19368708;19389109;19393419;19399650;19688755;19768395;19802898;19825962;19849834;19913121;19915015;20082856;20119652;20153743;20189936;20193854;20205103;20208144;20213850;20236688;20301715;20305538;20379614;20503330;20505258;20540712;20563860;20592014;20628086;20677014;20702724;20877624;20890271;20980436;21139048;21145461;21172883;21173220;21820839;21890473;21900206;21906983;21934479;21956414;21969497;21997692;22160509;22167067;22270996;22492777;22555179;22566157;22566194;22573489;22623428;22677546;22804613;22835832;22939629;22948025;22948026;22972948;22990118;23000077;2302193;23025307;23099648;23109135;23154831;23174333;23291190;23433498;23434467;23645213;23743927;23788249;23797725;24092654;24096807;24169168;24250222;24816145;2494655;7622059;7778269;8291026 6390 P21912;Q70SX8 ABBA01000262;ABBA01000263;AJ549502;AK312056;AL049569;AMYH02000388;BC007840;BF796275;BU554163;CH471134;D10245;DQ403007;M32246;NG_012340;NM_003000;U17248;U17886 AAA35708;AAA80581;AAA81167;AAH07840;ABD77140;BAA01089;BAG34992;CAE47739;EAW94828;EAW94829;NP_002991;P21912 Hs.465924 1658009 SHGC-74296 CWS2;FLJ92337;IP;PGL4;SDH;SDH1;SDH2;SDHIP OTTHUMP00000002396;iron-sulfur subunit of complex II;succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial APPROVED protein-coding ENSG00000117118 HGNC:10681 01707 115310;171300;185470;606764;606864;612359 REVIEWED 7241772 SDHCP4 succinate dehydrogenase complex, subunit C pseudogene 4 11 11 11 17587046 17587552 - 17456571 17457756 - 17435024 17436209 - 100422598 ABBA01061065;AC124798;AMYH02024383;NG_024319 pseudo HGNC:45179 INFERRED 1354327 SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013] 1 1 1 q23.3 134351304 134401671 + 161284166 161334541 + 161314376 161364751 + 1599507;1580863;2306881;6480464;6907045;7240710;8554872;8699517 11062460;16143825 11404820;11897817;12477932;12612654;12658451;15342702;15479192;15489334;15665296;16196087;16322339;16344560;16405730;16885361;17102080;17250422;17298551;17376234;17599579;17667967;17804857;18728283;19029228;19064571;19223516;19258401;19343621;19546167;19768395;19915015;20153743;20208144;20236688;20301715;20877624;21106325;21139048;21268708;21900206;21906983;21988832;22351710;22566194;22573489;22589738;2302193;23174333;23743927;23788249;24423348;6934864;7592812;9533030;9714607;9851882 6391 D6RBX6;Q99643 AB201252;AB211234;AB211235;AB212048;ABBA01016590;ABBA01016591;ABBA01016592;AC243898;AF039594;AK131051;AK293687;AK294305;AL592295;BC012735;BC020808;BC033626;BC066329;BG724095;CH471121;CR457102;D49737;DA751501;NG_012767;NM_001035511;NM_001035512;NM_001035513;NM_001278172;NM_003001;NR_103459;U57877 AAB41838;AAC27993;AAH20808;AAH33626;AAH66329;BAA31998;BAE46977;BAE46978;BAE46979;BAE46980;BAG57126;BAG57586;CAG33383;EAW52597;EAW52598;EAW52599;EAW52600;EAW52601;EAW52602;EAW52603;EAW52604;NP_001030588;NP_001030589;NP_001030590;NP_001265101;NP_002992;Q99643 Hs.444472 1651527;1688136;1692002;2117176 AL033654;RH65492;SHGC-31694;WI-11628 CYB560;CYBL;PGL3;QPS1;QPs-1;SDH3 OTTHUMP00000032375;OTTHUMP00000217417;OTTHUMP00000217418;OTTHUMP00000217419;OTTHUMP00000217420;cytochrome B large subunit of complex II;integral membrane protein CII-3;integral membrane protein CII-3b;succinate dehydrgenase cytochrome b;succinate dehydrogenase 3, integral membrane subunit;succinate dehydrogenase complex subunit C;succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD;succinate dehydrogenase cytochrome b560 subunit, mitochondrial;succinate-ubiquinone oxidoreducatase cytochrome B large subunit;succinate-ubiquinone oxidoreductase cytochrome B large subunit APPROVED protein-coding HGNC:10682 03878 602413;605373;606764;606864 REVIEWED 1350543 SDHDP1 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 1 18 18 18 p11.21 11984497 11984985 - 12101993 12102470 - 12101994 12102471 - 10482792 100289186;29773 ABBA01074010;AMYH02034324;AP002414;NG_030063 pseudo HGNC:10684 INFERRED 1343144 SDHDP4 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 4 3 3 3 p21.3 45861926 45863224 - 45924319 45925617 - 45882827 45884125 - 10482792 29770 ABBA01024720;AC005669;AC099782;AMYH02006668;NG_005646;NG_029472;NG_033917 pseudo HGNC:10687 INFERRED 1348181 SDHDP3 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 3 3 3 3 q26.3 167825846 167827152 + 169427060 169428366 + 169709272 169710578 + 10482792 29771 ABBA01058705;AC007849;AMYH02008099;NG_005647 pseudo HGNC:10686 INFERRED 1345704 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] 11 11 11 q23 109110763 109119710 + 111957548 111966525 + 112086824 112095801 + 1580035;1302858;1580863;2306881;6480464;6907045;6907134;7240710;8554872;8699517 10657297;15572694;16143825;21771581 10482792;11156372;11323050;11343322;11391796;11391798;11397905;11526495;11605159;11827452;11897817;12000816;12007193;12111639;12114404;12477932;12612654;12696072;12782822;12811540;12883710;1301144;14557476;15032977;15064708;15066320;15328326;15365827;15489334;15531530;15623805;16303743;16314641;16322339;16797480;17102080;17227803;17298303;17298551;17308434;17526943;17576205;17599579;17639058;17667967;17727250;17804857;17973943;18211978;18551016;18561749;18678321;18728283;18826997;18840642;19029228;19072999;19075037;19205158;19215943;19223516;19239085;19240061;19258401;19289533;19343621;19393419;19399650;19546167;19584903;19768395;19802898;19825962;19913121;19915015;20111059;20153743;20205103;20208144;20236688;20301715;20505258;20628086;20877624;20967262;21561462;21565294;21619495;21792967;21862453;21937622;21945342;22170724;22270996;22456618;22566194;22573489;22584711;22948026;2302193;23099648;23174333;23291190;23788249;24250222;7566098;7814027;9533030 6392 E9PK73;G3V173;H0YD41;H0YD96;O14521 AA374642;AB006202;AB026906;ABBA01039805;AI753083;AK075360;AMYH02025583;AP002007;BC005263;BC009574;BC012603;BC015188;BC015992;BC022350;BC070307;BC071755;BC071756;BE567994;BF211358;BG492859;BQ000657;BQ932668;BT007238;BX419391;CD105572;CH471065;CR456932;NG_012337;NM_001276503;NM_001276504;NM_001276506;NM_003002;NR_077060 AAH05263;AAH09574;AAH12603;AAH15188;AAH15992;AAH22350;AAH70307;AAH71755;AAH71756;AAP35902;ABM83627;ABM87291;BAA22054;BAA81889;BAG52120;CAG33213;EAW67181;EAW67182;EAW67183;NP_001263432;NP_001263433;NP_001263435;NP_002993;O14521 Hs.356270;Hs.744039 1669935;1688610;1736162;2153457;2164636 A002R25;D11S2246E;RH64925;RH80714;WI-11979 CBT1;CII-4;CWS3;PGL;PGL1;QPs3;SDH4;cybS OTTHUMP00000234720;OTTHUMP00000234721;OTTHUMP00000234722;OTTHUMP00000234723;OTTHUMP00000234724;OTTHUMP00000234725;OTTHUMP00000234726;succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial;succinate dehydrogenase complex subunit D;succinate dehydrogenase ubiquinone cytochrome B small subunit;succinate-ubiquinone oxidoreductase cytochrome b small subunit;succinate-ubiquinone reductase membrane anchor subunit APPROVED protein-coding ENSG00000204370 HGNC:10683 04069 114900;168000;171300;602690;606864;612359;615106 REVIEWED 1604017 SDHDP6 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 6 1 1 p36.11 25619849 25621160 - 25293358 25294669 - 10482792;11902138 29768 ABBA01059930;AC247058;AL928711;NG_007494;NG_029351 pseudo HGNC:10689 INFERRED 1345071 SDHDP7 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 7 1 1 p36.11 25725186 25726493 + 25398695 25400004 + 11902138 388606 ABBA01059932;AL031284;AL928711;AMYH02000540;NG_009208;NG_029352 pseudo HGNC:31410 INFERRED 4892135 SDIM1 stress responsive DNAJB4 interacting membrane protein 1 ENCODES a protein that exhibits protein homodimerization activity; INVOLVED IN negative regulation of cell death; neuron apoptotic process; FOUND IN integral component of membrane (inferred) 6 6 167046843 167049242 - 166307330 166309725 - 21255413 100505705 Q6ZPB5 AK129633;AL590482;XM_003118900;XM_003120019;XM_003120538 BAC85201;Q6ZPB5;XP_003118948;XP_003120067;XP_003120586 Hs.722069 protein-coding HGNC:38749 4777671 SDCCAG3P2 serologically defined colon cancer antigen 3 pseudogene 2 1 1 1 q25.1 148123432 148124515 - 175013765 175014848 - 175044629 175045712 - 22118674 646891 ABBA01027873;AMYH02002177;NG_022743;Z99297 pseudo HGNC:39164 INFERRED 1321280 SDK2 sidekick cell adhesion molecule 2 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 67913645 68224743 - 71330523 71640227 - 73334384 73644088 - 6480464;8554872 10819331;12230981;12477932;14702039;15203218;15213259;15489334;16625196;19165232;21139048;22990118;9310325 54549 H7C2P2;Q58EX2 AB040947;ABBA01028856;ABBA01028857;ABBA01028858;ABBA01028859;ABBA01028860;ABBA01028861;ABBA01028862;ABBA01028863;ABBA01028864;ABBA01160341;AC032019;AC087301;AC124804;AK001694;AK074994;AK091827;AL137357;AMYH02033962;AMYH02033963;AMYH02033964;AMYH02033965;AMYH02033966;AMYH02033967;AMYH02033968;BC045763;BC066363;BQ182396;CD629657;CH471099;NM_001144952 AAH45763;AAH66363;AAI72275;AAI72562;BAA91841;BAA96038;BAG52422;CAB70709;EAW89126;EAW89127;EAW89128;EAW89129;NP_001138424;Q58EX2 Hs.435719 1335817;1697048;1747647;1755705;1765497;1783568;1785484;2109813 D17S1831;G65527;RH102003;SDK2_9798;SHGC-142543;SHGC-148978;SHGC-152449;SHGC-154962 FLJ10832;KIAA1514 Drosophila sidekick-like;OTTHUMP00000202279;chicken sidekick 2-like;protein sidekick-2;sidekick homolog 2 APPROVED protein-coding ENSG00000069188 HGNC:19308 06239 607217 PROVISIONAL 1348108 SDPR serum deprivation response This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009] 2 2 2 q32-q33 186294205 186307180 - 192699031 192712006 - 191834305 191847280 - 1580863;6480464 10191091;12477932;12665801;15146197;15489334;15815621;16189514;16344560;18029348;18332105;19525939;19722192;21139048;21913217;23000965;23402259;2390065;8012384;8241023;8889548;9566962 8436 O95810 ABBA01062401;AC098872;AF085481;AK026943;AK290378;AMYH02005450;BC016475;BM971534;BQ025694;BX113402;CH471058;CN286178;DA561006;NM_004657;R55388;Z55164 AAD17795;AAH16475;AAY24078;ABM82366;ABM85543;BAF83067;EAX10833;NP_004648;O95810 Hs.26530 1644570;1664132;1777899;1851385;2162377 A004T07;RH45862;RH66552;SGC38126;WI-12497 CAVIN2;PS-p68;SDR;cavin-2 OTTHUMP00000205484;phosphatidylserine binding protein;phosphatidylserine-binding protein;serum deprivation-response protein APPROVED protein-coding ENSG00000168497 HGNC:10690 09470 606728 REVIEWED 1604728 SDR16C5 short chain dehydrogenase/reductase family 16C, member 5 RDHE2 belongs to a family of short-chain alcohol dehydrogenases/reductases that catalyze the first and rate-limiting step that generates retinaldehyde from retinol (Matsuzaka et al., 2002 [PubMed 12372410]).[supplied by OMIM, Mar 2008] 8 8 8 q12.1 53202994 53224037 - 57212570 57233335 - 56300011 56320776 - 6480464;8554872 12372410;12407145;12477932;14702039;15457346;18391950;18391951;18926804;19102727;20379614;20546612;20881960;21963094;21988832;23563607 195814 B3KT84;G3V145;Q8N3Y7 AB083038;ABBA01041764;ABBA01041765;AC103849;AK057667;AK095159;AK294634;AMYH02018020;AY444559;BC037219;BC064525;CH471068;NM_138969;XM_005251180;XM_005251181 AAH37219;AAH64525;AAS68535;BAB71545;BAB91014;BAG52996;BAG57813;EAW86780;EAW86781;EAW86782;NP_620419;Q8N3Y7;XP_005251237;XP_005251238 Hs.170673 2113114;2219616 D8S2301;RDH-E2__5473 EPHD-2;FLJ33105;RDH#2;RDH-E2;RDHE2;retSDR2 OTTHUMP00000226432;OTTHUMP00000226433;OTTHUMP00000226434;epidermal retinal dehydrogenase 2;epidermal retinol dehydrogenase 2;retinal short chain dehydrogenase reductase;retinal short-chain dehydrogenase reductase 2;short-chain dehydrogenase/reductase family 16C member 5 APPROVED protein-coding ENSG00000170786 HGNC:30311 12351 608989 VALIDATED 733521 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] 5 5 5 p15 317918 356377 + 218338 256815 + 218223 256700 + 1580863;724604;1300048;2306881;6480464;6907045;7240710;8554872;8699517 16143825;7550341 10198260;10746566;11120693;12477932;12612654;12794685;14702039;15242332;15489334;15961414;16196087;16344560;16361598;16751257;16826196;17298551;17376234;17620599;18781797;19064571;19628817;19644226;19688755;19738201;19836344;20186120;20301352;20301382;20301403;20301715;20440543;20489732;20551992;20877624;21139048;21145461;21505157;21890473;21900206;21906983;21963094;21987572;22190034;22268729;22360420;22505724;22586326;22623428;22677546;22797925;22939629;22955521;22972948;22974104;23000077;23060355;23109135;23174333;23174939;23282968;23291190;23380393;23633203;23743927;23797725;23874603;23956348;24250222;24414418;24583282;24654937;24816145;25027693;7798181;8125298;8142412 6389 D6REB7;D6RFM5;H0Y8S2;H0Y8X1;P31040 AB208991;ABBA01034261;ABBA01034262;AC021087;AF171017;AK094879;AK131350;AK131478;AK225027;AK291311;AK295937;AK302524;AMYH02010746;BC001380;BC004328;BC041016;CA427314;CH471235;D30648;DA160919;DQ402982;HY265959;L21936;NG_012339;NM_001294332;NM_004168;S79641;XM_005248329;XM_005248331 AAA20683;AAB35332;AAD51006;AAH01380;AAH41016;ABD77315;BAA06332;BAD92228;BAF84000;BAG52946;BAG54767;BAG58722;BAG63797;EAW50982;EAW50983;EAW50984;NP_001281261;NP_004159;P31040;XP_005248386;XP_005248388 Hs.440475 1791816;1792534;2131504;2174988;2217950;5024615;5096024 A002R37;G33146;PMC126239P2;PMC153210P1;RH63773;SDHA_2868;STS-L21936 CMD1GG;FP;PGL5;SDH1;SDH2;SDHF OTTHUMP00000115308;OTTHUMP00000221433;OTTHUMP00000221434;flavoprotein subunit of complex II;succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial;succinate dehydrogenase complex flavoprotein subunit APPROVED protein-coding ENSG00000073578 HGNC:10680 02914 252011;256000;600857;613642;614165 REVIEWED 1351853 SDHDP5 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 5 2 2 q32.1 178882773 178883983 + 178018046 178019256 + 10482792;9847074 29769 ABBA01062241;AC011998;AMYH02005322;NG_031938 pseudo HGNC:10688 INFERRED 1350059 SDHDP2 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 2 INTERACTS WITH zinc atom; zinc(0) 7 7 7 q32.1 129866624 129867926 + 135129188 135130488 + 135444440 135445740 + 6480464 10482792 647081 ABBA01001118;AC083871;AMYH02016816;CH236950;NG_009407 pseudo HGNC:10685 INFERRED 2303685 SDR16C6P short chain dehydrogenase/reductase family 16C, member 6, pseudogene INTERACTS WITH 3,3',4,4'-tetrachlorobiphenyl (ortholog) 8 8 8 q12.1 53276414 53298711 - 57287277 57303269 - 56374718 56390710 - 6480464 16421571;19027726;23251661 442388 ABBA01041766;ABBA01041767;AC023464;AC103849;AMYH02018020;DN831106;NR_103832 Hs.632065 1703974;2113132 D8S2310;SHGC-77746 SDR16C6 APPROVED pseudo ENSG00000253542 HGNC:35413 VALIDATED 9586293 SDR42E1P1 short chain dehydrogenase/reductase family 42E, member 1 pseudogene 1 9 9 39651816 39652368 - 39651825 39652377 - 100422340 AL590812;AMYH02020695;BX296545;BX649597;NG_023810 pseudo HGNC:50378 INFERRED 1319586 SDR39U1 short chain dehydrogenase/reductase family 39U, member 1 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014] 14 14 14 q12 4773608 4776643 - 24908972 24912042 - 24439766 24442801 - 6480464 12477932;14702039;15489334;19027726;21139048;21382349;21890473;24250222 56948 F6RWC2;G3V2Z6;G3V3J5;G3V451;G3V4N6;G3V4Z0;G3V5T1;H0YJ71;Q86TZ5;Q9NRG7 ABBA01061345;AF226050;AK123513;AL132800;AMYH02028880;BC000989;BC008566;BI256676;BX161384;CH471078;CN406892;NG_034018;NG_034031;NM_001290292;NM_001290293;NM_020195;XM_005267873;XM_006720207 AAF86950;AAH00989;CAD61875;EAW66009;EAW66010;EAW66011;EAW66012;NP_001277221;NP_001277222;NP_064580;Q9NRG7;XP_005267930;XP_006720270 Hs.643552 1647214;1672218;1674270;1736450;2157220;5124711 A002H45;D14S710E;HSCZSG032;RH48917;RH76482;WI-15548 C14orf124;HCDI OTTHUMP00000245807;epimerase family protein SDR39U1;short-chain dehydrogenase/reductase family 39U member 1 protein-coding ENSG00000100445 HGNC:20275 16598 REVIEWED 1601729 SDR42E1 short chain dehydrogenase/reductase family 42E, member 1 ENCODES a protein that exhibits 3-beta-hydroxy-delta5-steroid dehydrogenase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); steroid biosynthetic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; lead(0); lead(2+) 16 16 16 q23.3 66329095 66343762 - 82031251 82045093 - 81997646 82011488 - 6480464;8554872 12477932;17207965;19027726;21906983;22082156;23602568;8889548 93517 E9PQ06;Q8WUS8 ABBA01016952;AC092142;AF161368;AK026740;AK315652;AMYH02032523;BC019670;BX482154;CB851753;CH471114;NM_145168;XM_005256257 AAF28928;AAH19670;ABM82212;ADQ31772;BAG38018;EAW95521;EAW95522;EAW95523;NP_660151;Q8WUS8;XP_005256314 Hs.87779 1665456 RH68058 HSPC105 NAD(P) dependent steroid dehydrogenase-like;OTTHUMP00000232002;short-chain dehydrogenase/reductase family 42E member 1 protein-coding HGNC:29834 17118 VALIDATED 5688458 SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 ENCODES a protein that exhibits 3-beta-hydroxy-delta5-steroid dehydrogenase activity (inferred); INVOLVED IN oxidation-reduction process (inferred); steroid biosynthetic process (inferred) 16 16 p12.2 20956809 20981602 + 22176904 22201714 + 15616553;19027726 100288072 A6NKP2;R4GN39 AC009019;XM_002343452;XM_003119658 A6NKP2;XP_002343493;XP_003119706 1755143 SHGC-142068 Putative 3-beta-HSD family protein ENSP00000330812;putative short-chain dehydrogenase/reductase family 42E member 2 protein-coding HGNC:35414 732810 SDR9C7 short chain dehydrogenase/reductase family 9C, member 7 This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010] 12 12 12 q13.3 56970828 56982079 - 57316938 57328189 - 56923154 56934405 - 6480464;8554872 12234675;12477932;14702039;18029348;19027726;19703561;23341893 121214 Q8NEX9 ABBA01008445;AC026120;AK122782;AMYH02026577;AY044434;BC101551;BC101553;CH471054;NM_148897 AAI01552;AAI01554;AAK95856;BAG53726;EAW96967;NP_683695;Q8NEX9 Hs.380178 FLJ16333;MGC126600;MGC126602;RDH-S;RDHS;SDR-O;SDRO OTTHUMP00000244864;orphan short-chain dehydrogenase / reductase;orphan short-chain dehydrogenase/reductase;retinol dehydrogenase similar protein;short-chain dehydrogenase/reductase family 9C member 7 APPROVED protein-coding ENSG00000170426 HGNC:29958 15235 609769 REVIEWED 734053 SDS serine dehydratase This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008] 12 12 12 q24.13 113457510 113468952 - 113830250 113841692 - 113392445 113403887 - 1300048;1580863;6480464;6907045;7240710 10347152;12477932;14646100;15689518;163593;163697;18029348;18289528;18342636;23112234;2674117;31199;435568;8889548 10993 F8VW93;F8VXS0;P20132;Q8WW81 ABBA01019959;AC010178;AK292760;AMYH02027241;BC020750;BG534053;BG566257;BU740747;CH471054;J05037;NM_006843 AAA36604;AAH20750;BAF85449;EAW98054;EAW98055;EAW98056;NP_006834;P20132 Hs.439023 1712410;2114445;2121500;5022578;5022651 D11S2921;D1S1423;G54238;STS-J05037;WI-12136 SDH;TDH L-serine ammonia-lyase;L-serine deaminase;L-serine dehydratase;L-serine dehydratase/L-threonine deaminase;L-threonine dehydratase;OTTHUMP00000241529 APPROVED protein-coding ENSG00000135094 HGNC:10691 01633 182128;260400 REVIEWED 1349913 SDU skeletal dysplasia (unspecified) 6393 HGNC:10692 1319395 SDSL serine dehydratase-like ENCODES a protein that exhibits L-serine ammonia-lyase activity (inferred); L-threonine ammonia-lyase activity (inferred); pyridoxal phosphate binding (inferred); INVOLVED IN cellular amino acid metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 12 12 12 q24.13 113487476 113503320 + 113860042 113876081 + 113422237 113438277 + 1580863;6480464;8554872 12477932;15489334;16189514;16580895;18342636;19060904;20877624;21890473;23000965 113675 F8VYZ3;F8VZ97;H0YIA2;H0YID3;Q96GA7 ABBA01019960;AC009773;AC010178;AF134473;AMYH02027241;BC009849;BC091479;CH471054;NM_138432;XM_005253830;XM_005253831 AAH09849;AAH91479;AAP97250;ABM84069;ABM87428;EAW98057;EAW98058;EAW98059;NP_612441;Q96GA7;XP_005253887;XP_005253888 Hs.337594 1712508 G54204 SDH;SDH 2;SDS-RS1;TDH;cSDH L-serine deaminase;L-serine dehydratase/L-threonine deaminase;L-threonine dehydratase;OTTHUMP00000241522;OTTHUMP00000241523;OTTHUMP00000241524;serine dehydratase 2;serine dehydratase related sequence 1 protein-coding ENSG00000139410 HGNC:30404 11542 PROVISIONAL 1346173 SEA S13 erythroblastosis oncogene homolog (avian) 6395 HGNC:10695 165110 1353467 SEC11B SEC11 homolog B, pseudogene (S. cerevisiae) ENCODES a protein that exhibits serine-type peptidase activity (inferred); INVOLVED IN proteolysis (inferred); signal peptide processing (inferred); FOUND IN integral component of membrane (inferred) 8 8 8 q11.23 51425534 51426425 - 55435050 55435941 - 54522490 54523381 - 21906983;21987572 157708 P0C7V7 ABBA01041745;AC091076;AMYH02018003;NG_008902 P0C7V7 SEC11L2;SPCS4B APPROVED pseudo HGNC:31884 INFERRED 1626595 SEBOX SEBOX homeobox Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008] 17 17 17 q11.2 23553047 23554023 - 26691290 26692265 - 28364268 28365244 - 6480464 10922053;19913121;20628086;22082156 645832 C9JDG5;F5GX75;H0YJW9;Q9HB31 ABBA01015060;AC002094;AF284337;AMYH02033222;CH471159;KF573650;NM_001080837 AAG14458;EAW51081;NP_001074306;Q9HB31 1678371;1680274;1694928;1741909;1790371;1792904;1792906 G44355;GDB:186726;PMC16794P1;PMC16794P2;RH11584;RH71464;VTN OG-9;OG9;OG9X OTTHUMP00000237305;homeobox OG-9;homeobox protein SEBOX;skin-, embryo-, brain- and oocyte-specific homeobox APPROVED protein-coding ENSG00000274529 HGNC:32942 610975 VALIDATED 1344783 SEC11A SEC11 homolog A (S. cerevisiae) This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Dec 2012] 15 15 15 q25.3 61638279 61685260 - 85212768 85259691 - 84669537 84716460 - 6480464;8554872 10737800;12477932;15342556;15489334;16169070;16341674;17353931;18781797;19261089;21139048;21853274;21890473;21906983;21963094;21987572;21988832;22268729;22505724;23995782;24457600;24654937;8125298;8889548;9631292 23478 H0YKT4;H0YNA5;H0YNG3;H0YNX5;P67812 AA151795;AB209437;ABBA01052944;ABBA01052945;ABBA01052946;ABBA01052947;AC087732;AC115102;AF061737;AF087906;AF090315;AF108945;AI051931;AK223224;AK300693;AK314146;AMYH02030952;AMYH02030953;BC000359;BC014508;BF920344;BG703137;BI545042;BM763471;BM904189;BM985046;BP370483;BU540274;CD356160;CF455691;CH471101;CR457127;CT001736;DA963119;DC360846;FN058159;HY170714;KF456112;NM_001271918;NM_001271919;NM_001271920;NM_001271921;NM_001271922;NM_014300;NR_073518 AAC36354;AAD17526;AAD19640;AAH00359;AAH14508;AAP97204;ABM82752;BAD92674;BAD96944;BAG36834;BAG62376;CAG33408;EAX01952;EAX01953;EAX01954;EAX01955;EAX01956;NP_001258847;NP_001258848;NP_001258849;NP_001258850;NP_001258851;NP_055115;P67812 Hs.9534 5014711 SHGC-35901 1810012E07Rik;SEC11L1;SPC18;SPCS4A;sid2895 SEC11-like 1;SEC11-like protein 1;SPase 18 kDa subunit;endopeptidase SP18;microsomal signal peptidase 18 kDa subunit;sec11-like 1 (s. cerevisiae);signal peptidase complex (18kD);signal peptidase complex catalytic subunit SEC11A protein-coding ENSG00000140612 HGNC:17718 07503 REVIEWED 7174888 SEC13P1 SEC13 homolog (S. cerevisiae) pseudogene 1 3 3 3 p22.3 33018223 33019173 + 33075306 33076499 + 33033814 33035007 + 100131671 ABBA01024912;AC112211;AMYH02006514;NG_009005;NG_022244 1743317;2147975 G16542;GDB:314877 pseudo HGNC:44529 INFERRED 1348413 SEC11C SEC11 homolog C (S. cerevisiae) ENCODES a protein that exhibits serine-type peptidase activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); gene expression (inferred); proteolysis (inferred); FOUND IN endoplasmic reticulum membrane (inferred); integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; copper atom 18 18 18 q21.32 53525021 53543961 + 56806709 56826069 + 59139884 59158836 + 1580863;6480464 12477932;15489334;17207965;21890473;21906983;21963094;9631292 90701 K7EJQ7;Q9BY50 ABBA01056162;ABBA01056163;AC021241;AF212233;AK295346;AK307127;AK314107;AMYH02034823;BC009703;CH471096;NM_033280;XM_005266779 AAH09703;AAK14919;ADQ33210;BAG36800;BAG58315;EAW63089;EAW63090;NP_150596;Q9BY50;XP_005266836 Hs.45107 1775699;5017227 G38154;STS-N41002 SEC11L3;SPC21;SPCS4C OTTHUMP00000163649;SEC11-like 3;SEC11-like protein 3;SPase 21 kDa subunit;microsomal signal peptidase 21 kDa subunit;signal peptidase complex catalytic subunit SEC11C protein-coding ENSG00000166562 HGNC:23400 15310 PROVISIONAL 6770065 SEC14L1P1 SEC14-like 1 pseudogene 1 11 11 11 p11.2 44064725 44067307 + 43918853 43921438 + 43897303 43899888 + 729799 AA559282;ABBA01060774;AC087521;AMYH02024680;AW070233;BG112955;NR_026952 Hs.368920 pseudo HGNC:44189 PROVISIONAL 1344614 SEC13 SEC13 homolog (S. cerevisiae) The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008] 3 3 3 p25-p24 10278423 10298663 - 10342613 10362872 - 10300929 10321188 - 1580863;6480464;6907045 10747849;10788476;11031247;11252894;12477932;12665801;14517296;14702039;15146057;15146197;15489334;16189514;16407955;16799092;17360435;18160040;18457437;18692470;18713835;18781797;19054391;19056867;19338310;19682973;20360068;20676042;21139048;21145461;21890473;21988832;22331354;22586326;22863883;22939629;23000965;23455922;23602568;23824909;24457600;24654937;24816145;25027693;7876304;7987303;8125298;8619474;9110174 6396 A8MWR8;A8MXL6;C9J0S2;C9JBJ5;C9JIB6;E7ERC8;P55735 AA682381;AB209554;ABBA01020379;AC022384;AF052155;AK095629;AK223019;AK294662;AK301999;AMYH02006255;AMYH02006256;BC002634;BC006167;BC091506;BE621430;CH471055;CN344033;DB564012;EF036494;L09260;NM_001136026;NM_001136232;NM_001278946;NM_030673;NM_183352;XM_005265377;XM_005265378;XM_005265379;XM_006713286;XM_006713287;XM_006713288 AAH02634;AAH06167;AAH91506;ABO65080;BAD92791;BAD96739;BAG57832;BAG63403;EAW64077;EAW64078;NP_001129498;NP_001129704;NP_001265875;NP_109598;NP_899195;P55735;XP_005265434;XP_005265435;XP_005265436;XP_006713349;XP_006713350;XP_006713351 Hs.166924 1687878;1687880;1730918;1735208;1741877;2109815;2139684;5015961 D15S1477;D3S1350;D3S2866E;GDB:186267;SEC13L1_8614;SHGC-2675;SHGC-2687;T15986 D3S1231E;SEC13L1;SEC13R;npp-20 OTTHUMP00000158854;OTTHUMP00000158855;OTTHUMP00000195525;OTTHUMP00000195526;OTTHUMP00000195527;SEC13-like 1 isoform;SEC13-like protein 1;SEC13-related protein;protein SEC13 homolog APPROVED protein-coding ENSG00000157020 HGNC:10697 02538 600152 REVIEWED 736725 SEC14L2 SEC14-like 2 (S. cerevisiae) This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] 22 22 22 q12.2 14592619 14620968 + 30792930 30821291 + 30396941 30425303 + 1580863;6480464 10574461;10591208;10829015;11226224;11258795;11444841;12429094;12454003;12477932;12757856;12972248;14702039;15033454;15461802;15790807;15998911;16267002;17334589;18676680;19170196;19190344;19305383;19625176;19692168;19909011;21890473;22747683;23129185;23401652;23411208;7364757;8125298;8889548;9036970;9847074 23541 B3KRD8;B7Z3Z8;C9JTM4;C9JYY7;C9JZI9;F8WED8;F8WEE7;O76054 AA610131;AB033012;ABBA01055295;ABBA01055296;ABBA01055297;AC004832;AK056163;AK091402;AK223587;AK296540;AK303751;AK314390;AL096881;AMYH02038216;AY203959;AY927434;AY927435;AY927436;AY927437;AY927438;AY927439;AY927441;BC048337;BC058915;BM680990;BU734336;CH471095;CR456571;DC375707;KF511442;NM_001204204;NM_001291932;NM_012429;NM_033382 AAF19256;AAH58915;AAP34482;BAA86500;BAD97307;BAG37015;BAG52350;BAH12384;BAH14037;CAB51405;CAG30457;CAK54601;CAK54900;EAW59885;EAW59886;EAW59887;EAW59888;NP_001191133;NP_001278861;NP_036561;NP_203740;O76054 Hs.335614 1682305;1693680;2173741 A004Y09;D22S1023E.1;SHGC-58605 C22orf6;KIAA1186;KIAA1658;MGC65053;SPF;TAP;TAP1;hTAP OTTHUMP00000198972;OTTHUMP00000198973;OTTHUMP00000198974;OTTHUMP00000199021;SEC14-like protein 2;alpha-tocopherol-associated protein;sec14 (s. cerevisiae)-like 2;squalene transfer protein;supernatant protein factor;tocopherol-associated protein APPROVED protein-coding ENSG00000100003 HGNC:10699 06344 607558 REVIEWED 1605420 SEC14L5 SEC14-like 5 (S. cerevisiae) ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); intracellular (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); C60 fullerene (ortholog) 16 16 16 p13.3 5217701 5278537 + 5008318 5069156 + 4958317 5019155 + 6480464;8554872 23319000;9455477 9717 K7ERV2;O43304 AB007880;ABBA01026794;ABBA01026795;ABBA01026796;ABBA01026797;ABBA01026798;AC007011;AC026458;AC027687;AMYH02031330;AMYH02031331;BC045685;CH471112;NM_014692 AAI66626;BAA24850;EAW85247;NP_055507;O43304 Hs.512856 1646452;1651453 RH68422;SHGC-60724 KIAA0420;PRELID4B SEC14-like protein 5 protein-coding ENSG00000103184 HGNC:29032 VALIDATED 1346355 SEC14L3 SEC14-like 3 (S. cerevisiae) The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 22 22 22 q12.2 14654929 14667748 - 30843946 30868034 - 30447959 30472047 - 1580863;6480464;8554872 10591208;12477932;12757856;15033454;15040456;8889548 266629 B5MC44;F8WB08;H7C1Y0;Q495V9;Q6XCI7;Q9UDX4 ABBA01055297;AC004832;AK131358;AK298079;AMYH02038217;AY158086;AY240872;BC069641;BC101001;BC101002;BC101003;BC101004;BE219833;BQ186227;BU584962;CH471095;EL947765;NG_027515;NM_001257378;NM_001257379;NM_001257382;NM_174975;XM_005261527 AAF19258;AAH69641;AAI01002;AAI01003;AAI01004;AAI01005;AAO21870;AAO52677;BAG54768;BAG60367;EAW59893;EAW59894;NP_001244307;NP_001244308;NP_001244311;NP_777635;Q9UDX4;XP_005261584 Hs.505601 1852223;2182774;5015861;7185938 D10S16;RH79242;SGC38334 MGC119366;MGC119367;MGC119368;TAP2 OTTHUMP00000199510;OTTHUMP00000199511;OTTHUMP00000199512;OTTHUMP00000199582;OTTHUMP00000199583;SEC14-like protein 3;SEC14p-like protein TAP2;tocopherol-associated protein 2 APPROVED protein-coding ENSG00000100012 HGNC:18655 15311 612824 REVIEWED 1343842 SEC14L4 SEC14-like 4 (S. cerevisiae) The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009] 22 22 22 q12.2 14684603 14701411 - 30884877 30901698 - 30488890 30505711 - 1580863;6480464;8554872 10591208;12477932;12757856;14702039;15033454;15461802;19322201;20012369;21139048;21906983;8889549 284904 B2RMR2;B3KRP9;B3KSF0;D7F472;F8WEM2;Q6ICM2;Q9UDX3 ABBA01055299;AC004832;AK092002;AK093418;AK093448;AMYH02038217;AY158085;BC136358;BC136359;BC139912;CH471095;CR456346;FJ824055;NM_001161368;NM_174977;T72380;XM_005261583;XM_006724231;XM_006724232;XM_006724233;XM_006724234;XM_006724235 AAF19259;AAI36359;AAI36360;AAI39913;AAO21869;ACR78114;BAG52461;BAG52712;BAG52719;CAG30232;CAK54647;CAK54946;EAW59895;EAW59896;EAW59897;NP_001154840;NP_777637;Q9UDX3;XP_005261640;XP_006724294;XP_006724295;XP_006724296;XP_006724297;XP_006724298 Hs.517541 2109817;2176311;5015861;5037552;7185938 D10S16;D8S2279;SEC14L4__5568;WI-17157 TAP3 OTTHUMP00000199506;OTTHUMP00000199507;SEC14-like protein 4;SEC14p-like protein TAP3;tocopherol-associated protein 3 APPROVED protein-coding ENSG00000133488 HGNC:20627 15312 612825 REVIEWED 6769934 SEC1P secretory blood group 1, pseudogene 19 19 19 q13.33 46006161 46051600 + 49141296 49185502 + 48638039 48682245 + 6480464 10723735;18067503;20210993;7876235;9219535 653677 AA922053;ABBA01032974;ABBA01032975;ABBA01032976;ABBA01032977;ABBA01032978;AC008888;AK301046;AK301238;AMYH02036305;AMYH02036306;AMYH02036307;AMYH02036308;AMYH02036309;D87946;D87947;DC353776;KF459831;NR_004401;U17895 BAG62808;BAH13396 Hs.443160 5112293 RH103095 SEC1 pseudo ENSG00000232871 HGNC:44149 VALIDATED 1354294 SEC16A SEC16 homolog A (S. cerevisiae) This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013] 9 9 9 q34.3 109849015 109891964 - 139334548 139379297 - 136440096 136484840 - 737633;6480464 12477932 12168954;14702039;14743216;15164053;15302935;15489334;16751776;16964243;17005010;17081983;17192411;17428803;18457437;19380743;19542561;19638414;20811636;21045114;21139048;21145461;21297633;21565611;21697133;21768384;22347445;22424054;22543157;22586326;22740409;22792062;22863883;23383273;23398456;23443559;23455922;23667531;23752268;24255178;24457600;24654937;24816145;8889548;9205841 9919 F1T0I1;J3KNL6;O15027;Q6ZP13;Q8N9G1;X6RGP5 AB002308;AB593115;AB621812;ABBA01022708;ABBA01022709;AK074565;AK094041;AK094756;AK124843;AK126215;AK129634;AK130247;AK301371;AK302210;AK316194;AL592301;AMYH02021901;AMYH02021902;BC001404;BC008332;BC016873;BC028183;BC040710;BC051290;BC070488;BC098454;BC125018;BC125019;BM975558;DQ593401;DQ595727;DQ903855;NM_001276418;NM_014866;XM_005266132;XM_005266133;XM_005266134;XM_005266136;XM_005266137 AAH01404;AAH08332;AAH16873;AAH28183;AAH98454;AAI25019;AAI25020;ABI78944;BAA20769;BAC04415;BAC11063;BAC85312;BAG62913;BAG63568;BAH14565;BAJ84055;BAK64148;NP_001263347;NP_055681;O15027;XP_005266189;XP_005266190;XP_005266191;XP_005266193;XP_005266194 Hs.522500 1651081;1770760;1854415;2114769;5022651 D11S2921;RH77981;RH78813;WI-11990;WI-5789 FLJ26737;KIAA0310;RP11-413M3.10;SEC16L;p250 OTTHUMP00000022589;OTTHUMP00000022592;OTTHUMP00000022593;protein SEC16 homolog A;protein transport protein Sec16A APPROVED protein-coding ENSG00000148396 HGNC:29006 612854 REVIEWED 737396 SEC16B SEC16 homolog B (S. cerevisiae) SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009] 1 1 1 q25.2 151007141 151047948 - 177892825 177939188 - 177929107 177969915 - 6480464;8554872 11572484;11605020;11752456;12477932;14702039;15302935;16189514;17192411;19079260;19214710;19812171;19851340;20215397;20616199;20712903;20724581;20816195;20935630;21102462;21768384;22344221;22355596;23121087;23563607;23583978;23669352;23894747;24529757 89866 E9PK14;H0YE70;Q96JE7;U3KQ39 AB063357;ABBA01027845;ABBA01027846;ABBA01027847;AK074451;AK090971;AK093939;AK098627;AK314585;AL160007;AL356279;AMYH02002212;AV697113;BC009106;CH471067;EF125213;NM_033127 AAH09106;ABN42197;ADZ15970;BAB61035;BAC05357;EAW91010;EAW91011;EAW91012;EAW91013;EAW91014;EAW91015;NP_149118;Q96JE7 Hs.149540 1643994;1707838;1771986;2107547 RGPR__6887;SHGC-75947;SHGC-75957;SHGC-82150 DKFZp686C2486;FLJ23871;FLJ25761;FLJ33652;FLJ36620;LZTR2;PGPR-p117;RGPR;SEC16S OTTHUMP00000032954;OTTHUMP00000206854;RGPR-p117;leucine zipper transcription regulator 2;protein SEC16 homolog B;protein transport protein Sec16B;regucalcin gene promoter region-related protein p117;regucalcin gene promotor region related protein APPROVED protein-coding ENSG00000120341 HGNC:30301 11491 612855 VALIDATED 1344636 SEC22A SEC22 vesicle trafficking protein homolog A (S. cerevisiae) The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008] 3 3 3 q21.1 121327594 121400083 + 122920774 122992983 + 123201927 123274136 + 61611;1580863;6480464 9094723 11042152;11927603;12477932;14702039;15489334;16344560;17207965;17499046;20379614;8621431;9501016 26984 C9J463;C9JDJ8;C9JNZ0;C9JR77;C9JRY4;C9JZ27;F8WAU7;Q96IW7 ABBA01016461;ABBA01016462;AC063922;AC112503;AF100749;AK057587;AK315771;AMYH02007550;BC007122;BG613364;BX118915;CH471052;DA308910;NM_012430 AAD43013;AAH07122;ADQ32303;BAG38123;BAG51938;EAW79451;NP_036562;Q96IW7 Hs.477361 1341787;1663067;1672927;1674482;1759725;2149067;2179171;5014003;5015869;5037552;5491543 D17S1136;D3S3674;D8S2279;GDB:313261;MARC_17489-17490:1016467909:1;SGC34688;SHGC-151005;SHGC-58219;SHGC-77272;STS-H48436;WI-20424 SEC22L2 OTTHUMP00000215581;OTTHUMP00000215582;OTTHUMP00000215583;OTTHUMP00000215598;SEC22 vesicle trafficking protein-like 2;SEC22 vesicle-trafficking protein homolog A;SEC22 vesicle-trafficking protein-like 2;sec22 homolog;vesicle-trafficking protein SEC22a APPROVED protein-coding HGNC:20260 15313 612442 REVIEWED 5132081 SEC14L6 SEC14-like 6 (S. cerevisiae) ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); FOUND IN integral component of membrane (inferred); intracellular (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 22 22 22 q12.2 14720696 14742385 - 30920629 30942669 - 30524642 30546682 - 6480464 15146197 730005 B5MCN3;H7C077 ABBA01055300;AC004832;AMYH02038217;BG163986;BX283471;CN413798;NM_001193336;XM_005261726;XM_006724315;XM_006724316;XM_006724317;XM_006724318 B5MCN3;NP_001180265;XP_005261783;XP_006724378;XP_006724379;XP_006724380;XP_006724381 Hs.505605 OTTHUMP00000199584;SEC14-like 6;putative SEC14-like protein 6 protein-coding HGNC:40047 INFERRED 1607079 SEC22C SEC22 vesicle trafficking protein homolog C (S. cerevisiae) This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 3 3 3 p22.1 42529876 42563833 - 42589459 42642572 - 42547967 42601080 - 6480464 12477932;12975309;16344560;21963094;24250222;9501016 9117 C9J2R1;C9J448;C9J9A4;C9JNW1;F8VQT7;F8WBN1;F8WDR5;H7C479;Q9BRL7 ABBA01024766;ABBA01024767;ABBA01024768;AC092047;AF039568;AK074576;AK292856;AK293133;AMYH02006629;AY359041;BC006178;BC018437;BX377531;CB410223;CH471055;CR749670;DA434403;NM_001201572;NM_001201584;NM_004206;NM_032970;XM_005265532;XM_005265533;XM_005265534;XM_005265535;XM_006713382 AAD02171;AAH06178;AAH18437;AAQ89400;ABM82520;ABM85713;BAF85545;BAG56682;CAH18461;EAW64653;EAW64654;EAW64655;EAW64656;NP_001188501;NP_001188513;NP_004197;NP_116752;Q9BRL7;XP_005265589;XP_005265590;XP_005265591;XP_005265592;XP_006713445 Hs.445892 1340088;1714359;1759757;1776710;2108451;2183144;5014057;5022450;5022649;5037552 D10S275;D11S2875;D1S3699;D3S3687;D8S2279;RH119961;SEC22L3_8900;SHGC-150986;SHGC-76864;STS-H98967 DKFZp761F2321;MGC13261;MGC5373;SEC22L3 OTTHUMP00000162608;OTTHUMP00000162609;OTTHUMP00000209408;OTTHUMP00000209409;OTTHUMP00000209410;OTTHUMP00000209412;SEC22 vesicle trafficking protein-like 3;SEC22 vesicle-trafficking protein homolog C;SEC22 vesicle-trafficking protein-like 3;secretion deficient 22C;vesicle trafficking protein;vesicle-trafficking protein SEC22c APPROVED protein-coding ENSG00000093183 HGNC:16828 04938 604028 REVIEWED 1354109 SEC23A Sec23 homolog A (S. cerevisiae) The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008] 14 14 14 q21.1 19365589 19437057 - 39501123 39572447 - 39031919 39103243 - 1580863;6480464;6907045;7240710;8554872;8699517 10075675;10329445;11031247;11252894;12477932;12508121;12677423;14702039;15013749;15489334;15580264;16091426;16980979;17192411;17220478;17981133;18692470;18713835;20379614;21139048;21145461;21319273;21593139;21890473;21906983;21963094;21988832;22495181;22586326;22863883;22939629;23000965;23453696;23658022;23994533;24069399;24449167;24550385;24816145;25027693;8898360 10484 F5H365;G3V1W4;G3V2R6;G3V3G5;G3V4Q2;G3V4V1;G3V5K1;G3V5X8;Q15436 ABBA01061543;ABBA01061544;ABBA01061545;AK127355;AK293944;AK299862;AK303485;AK312259;AL109628;AL137739;AMYH02029048;AMYH02029049;BC036649;BX537566;CH471078;NG_012157;NM_006364;X97064;XM_005267262 AAH36649;ABM81828;ABM84273;ABM84981;BAG35191;BAG54494;BAG57321;BAG61717;BAG64521;CAA65774;EAW65831;NP_006355;Q15436;XP_005267319 Hs.272927 1712797;1796728;2126930;2138961;2148788;2159356 A003B13;D14S644E;G35986;RH120113;RH78878;SEC23A_1368 CLSD;MGC26267 OTTHUMP00000178872;OTTHUMP00000244209;OTTHUMP00000244213;SEC23-related protein A;protein transport protein Sec23A APPROVED protein-coding ENSG00000100934 HGNC:10701 06714 607812;610511 REVIEWED 1321756 SEC23B Sec23 homolog B (S. cerevisiae) The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010] 20 20 20 p11.23 18562250 18616127 + 18488188 18542059 + 18507544 18561415 + 1580863;6480464;6907045;7240710;8554872;8699517 10075675;10329445;11780052;11836161;12477932;15342556;15489334;16189514;16341674;18029348;19561605;19621418;19738201;20015893;20379614;20381388;20562859;20941788;21139048;21145461;21252497;21850656;21890473;21906983;22208203;22267732;22323290;22586326;22764119;22863883;22939629;23000965;23455922;23602568;24069399;24196372;24816145;25027693;8898360;9345103;9472029 10483 B4DJW8;Q15437;Q5QPE1;Q5QPE2 ABBA01054047;ABBA01054048;AK296270;AK299171;AK299513;AL121893;AL121900;AL540773;AMYH02036780;BC001151;BC001575;BC005032;BC005404;BC095404;BM473680;BM751928;BM925053;BP244573;BX398403;CH471133;DB447110;EC528189;NG_016281;NM_001172745;NM_001172746;NM_006363;NM_032985;NM_032986;X97065 AAH05032;AAH05404;AAH95404;ABM82079;ABM85258;BAG58980;BAG61217;BAG61466;CAA65775;EAX10231;EAX10232;EAX10233;EAX10234;EAX10235;NP_001166216;NP_001166217;NP_006354;NP_116780;NP_116781;Q15437 Hs.369373 1798134;2149398;2161652;2170344;2191363 A006P24;MARC_17867-17868:1025013978:1;RH66074;SEC23B_2632;SHGC-31801 CDA-II;CDAII;CDAN2 HEMPAS;OTTHUMP00000042645;OTTHUMP00000042646;OTTHUMP00000042648;OTTHUMP00000063206;SEC23-like protein B;SEC23-related protein B;congenital dyserythropoietic anemia, type II;transport protein SEC23B APPROVED protein-coding ENSG00000101310 HGNC:10702 11543 224100;610512 REVIEWED 1319616 SEC23IP SEC23 interacting protein This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] 10 10 10 q25-q26 115383262 115432278 + 121652085 121704170 + 119892573 119944658 + 1580863;6480464;8554872 10400679;11112430;12477932;14702039;15489334;15623529;16344560;16385451;16510448;17428803;18029348;19240061;19542561;20308572;20679433;21139048;21890473;21906983;22261722;22863883;22939629;24550385;24816145 11196 F5H0L8;H7C0V8;H7C4C4;Q9Y6Y8 AB019435;ABBA01062880;ABBA01062881;ABBA01062882;AC027672;AF116723;AI093198;AK000698;AK001135;AK021846;AK023238;AK301517;AK307286;AK314592;AMYH02023915;BC002540;BC063800;BT006755;BX649119;CH471066;DA193345;DA942854;KF455292;NM_007190;NR_037771;XM_005269469;XM_005269470;XR_246061 AAH63800;AAO15299;AAP35401;BAA77392;BAG50859;BAG51172;BAG63023;EAW49371;EAW49372;EAW49373;EAW49374;NP_009121;Q9Y6Y8;XP_005269526;XP_005269527 Hs.435004 1673536;1699240;1846987;2118553;5024761;5093326;5127615 A009L28;G32653;RH103201;RH36905;RH44608;STS-H95966;STS-N22197 MSTP053;P125;P125A OTTHUMP00000020613;SEC23-interacting protein;Sec23-interacting protein p125;phospholipase APPROVED protein-coding ENSG00000107651 HGNC:17018 07152 REVIEWED 1320418 SEC14L1 SEC14-like 1 (S. cerevisiae) The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011] 17 17 17 q25.2 71732575 71808664 + 75084725 75213183 + 77088643 77217101 + 1580863;6480464 11076863;11230166;11707779;12477932;14702039;15489336;16344560;16368544;16381901;18187620;19734545;21139048;21890473;21906983;21963094;22053931;22683750;23000965;23083832;23843640;24250222;8619474;8697811;9110174 6397 A5PLM6;D5G3K4;K7EIJ7;K7EJ08;K7EJJ2;K7ELM0;K7ELU0;K7EPE4;K7EQK4;K7ERB3;K7ESI4;Q59HE8;Q7Z3R7;Q92503 AB208811;ABBA01028714;ABBA01028715;ABBA01028716;ABBA01028717;ABBA01028718;ABBA01028719;ABBA01028720;AC015815;AC068594;AK094232;AK130317;AK290913;AK293206;AK293867;AK303328;AMYH02034028;AMYH02034029;AMYH02034030;AMYH02034031;BC136523;BC136525;BC142979;BM802278;BX537448;CH471099;D67029;DA024354;DB040556;DB040580;FM995495;FM995496;FM995497;FM995498;KF456327;KF456329;NM_001039573;NM_001143998;NM_001143999;NM_001144001;NM_001204408;NM_001204410;NM_003003;U79284 AAB50220;AAI36524;AAI36526;AAI42980;AAI43078;AAI50322;BAA11048;BAC85325;BAD92048;BAF83602;BAG56746;BAG57258;BAG64393;CAD97690;CAL38341;CAX33889;CAX33890;CAX33891;CAX33892;EAW89469;EAW89470;NP_001034662;NP_001137470;NP_001137471;NP_001137473;NP_001191337;NP_001191339;NP_002994;Q92503 Hs.464184 1644054;1686845;1695980;1734510;1756539;2122291;5014435 D17S1453E;G38326;RH36193;RH78798;RH98794;SHGC-143569;SHGC-82728 DKFZp686C06176;PRELID4A;SEC14L SEC14-like protein 1 APPROVED protein-coding ENSG00000129657 HGNC:10698 03295 601504 REVIEWED 1352696 SDK1 sidekick cell adhesion molecule 1 INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 7 7 7 p22.2 3309584 4277798 + 3341080 4308632 + 3301448 4269000 + 1580863;6480464;8554872 12230981;14702039;15213259;15231748;16344560;17307840;19197348;19851296;20198315;20379614;20398908;20562105;21150319;22889411;23251661;23314748;23827383;8619474;9110174 221935 F8W6X9;H7C255;Q7Z5N4 ABBA01039403;ABBA01039404;ABBA01039405;ABBA01039406;ABBA01039407;ABBA01039408;ABBA01039409;ABBA01039410;ABBA01039411;ABBA01039412;ABBA01039413;ABBA01039414;ABBA01039415;AC004935;AC004984;AC011284;AC015968;AC017000;AC069286;AC073316;AC073550;AC079231;AC092427;AF131799;AK055987;AK055988;AK074077;AK074083;AL833354;AMYH02015093;AMYH02015094;AMYH02015095;AMYH02015096;AMYH02015097;AMYH02015098;AMYH02015099;AMYH02015100;AMYH02015101;AMYH02015102;AMYH02015103;AMYH02015104;AMYH02015105;AMYH02015106;AY310398;CH236953;CH471144;DB065853;DB454012;KF458353;KF458360;KF458363;NM_001079653;NM_152744 AAP75619;BAB71066;BAB84903;BAB84909;EAW87286;EAW87287;EAW87288;NP_001073121;NP_689957;Q7Z5N4 Hs.653013 1335645;1649140;1649710;1652815;1658127;1659888;1660335;1661946;1664479;1668883;1674729;1686812;1697322;1701392;1704246;1713355;1739897;1749319;1761451;1771520;1786304;1786308;1847498;1848674;1849662;2129536;2140255;2140370;2143738;2143837;2144382;2147067;2150556;2160183;2163947;2164922;2167922;2178278;2180748;2183774;2183776;2187317;5093052;7186407;7186496 A004G34;A006H07;A009E45;D7S2134E;D7S2236;D7S2391;D7S2424;D7S2649;D7S544E;D7S752;G20798;G32491;GDB:1317130;GDB:1317596;GDB:1317614;GDB:1317626;GDB:1318166;GDB:1318168;GDB:1318252;GDB:1318258;GDB:1318462;GDB:1318720;GDB:1318732;GDB:4585491;RH102158;RH104326;RH119531;RH11955;RH11998;RH16383;RH93095;SGC35203;SHGC-111082;SHGC-145460;SHGC-154026;SHGC-154245;SHGC-33107;SHGC-83254;STS-N20093;STS-N26031;WI-10377;WI-12220;WI-18580 FLJ31425 OTTHUMP00000200446;OTTHUMP00000200448;protein sidekick-1;sidekick homolog 1 (chicken);sidekick homolog 1, cell adhesion molecule APPROVED protein-coding ENSG00000146555 HGNC:19307 07388 607216 VALIDATED 6483857 SEC24B-AS1 SEC24B antisense RNA 1 This lncRNA contains a single Alu element which, along with 1/2-sbsRNA3, appears to target the 3' UTR Alu element in MTAP. Downregulation of the RNA appears to up-regulate the target. [provided by RefSeq, Feb 2011] 4 4 q25 110351119 110354973 - 109429963 109433817 - 12477932;21307942 100533182 ABBA01063775;AC138782;AMYH02009897;BC009800;HG497160;NG_032166;NR_039978 Hs.518927 1/2-SBSRNA4;RP11-264J9.1 APPROVED ncrna ENSG00000247950 HGNC:44003 VALIDATED 1323325 SEC24D SEC24 family member D The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. [provided by RefSeq, Jul 2008] 4 4 4 q26 117004529 117117866 - 119643978 119759838 - 118722823 118838683 - 1580863;6480464;6907045 10075675;10329445;11031247;11252894;12477932;14702039;15231748;15580264;16189514;16344560;17210573;20332099;20379614;20889976;21890473;21906983;22404651;22863883;22939629;24250222;9872452 9871 A8K6V0;D6RAE2;D6RBM1;D6RGJ5;E9PC44;E9PDM8;E9PG84;O94855 AB018298;ABBA01044693;ABBA01044694;ABBA01044695;AC108030;AC110079;AF130464;AK000709;AK001390;AK125962;AK291765;AK302479;AK309960;AK310259;AMYH02009984;AMYH02009985;BC035761;BC037736;CH471229;DB224337;NM_014822;XM_005263378;XM_005263379 AAD28756;AAH35761;AAH37736;AAY40935;ABM85382;ABW03718;BAA34475;BAA91334;BAF84454;BAG50901;BAG54271;BAG63767;EAW73653;EAW73654;EAW73655;EAW73656;NP_055637;O94855;XP_005263435;XP_005263436 Hs.189641 1701382;1735394;2130948;2150340;2150342 D4S2565E;D4S2788;RH104321;SHGC-36538;SHGC-50671 FLJ43974;KIAA0755 OTTHUMP00000163899;OTTHUMP00000219902;SEC24 family, member D;SEC24 related gene family, member D;SEC24-related protein D;protein transport protein Sec24D APPROVED protein-coding ENSG00000150961 HGNC:10706 06218 607186 REVIEWED 1350188 SEC31A SEC31 homolog A (S. cerevisiae) The protein encoded by this gene is similar to yeast Sec31 protein. Yeast Sec31 protein is known to be a component of the COPII protein complex which is responsible for vesicle budding from endoplasmic reticulum (ER). This protein was found to colocalize with SEC13, one of the other components of COPII , in the subcellular structures corresponding to the vesicle transport function. An immunodepletion experiment confirmed that this protein is required for ER-Golgi transport. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 4 4 4 q21.22 81030957 81102991 - 83739814 83812419 - 82818661 82891266 - 1580863;6480464;6907045 10048485;10788476;11031247;11252894;11269867;12107410;12477932;12665801;14702039;15146057;16161041;16344560;16407955;16957052;17196169;17214967;17981133;18029348;18256029;18692470;18713835;18781797;19054391;19738201;20379614;20691033;20834162;20936779;21109691;21139048;21145461;21325169;21853274;21890473;21900206;21906983;21963094;22331354;22623428;22939629;23000965;23349870;24069399;24654937;24816145;25027693;8125298 22872 D6RAB3;D6RBT0;D6RCQ9;D6RE64;D6REA9;D6REC0;D6REX3;D6RHE8;D6RHZ5;H0Y8V7;H0Y8W8;H0Y9K1;H0Y9T9;H0Y9V3;H0YAB3;H0YAF5;H7BXG7;O94979;U3KQC9;U3KQR3 AB018358;AB018359;AB020712;ABBA01063444;ABBA01063445;ABBA01063446;ABBA01063447;ABBA01063448;ABBA01063449;AC021105;AC108469;AF139184;AF161393;AF161452;AK001014;AK002161;AK125897;AK225934;AK295810;AL049463;AL704825;AMYH02009608;AMYH02009609;AMYH02009610;AY137583;BC031292;BC039834;BC047883;BC084583;BC117221;BC143489;BC143491;BC143492;CA397330;CA428539;CH471057;CR933696;DA218900;DA508741;DA720299;DC342364;NG_029569;NM_001077206;NM_001077207;NM_001077208;NM_001191049;NM_001300744;NM_001300745;NM_014933;NM_016211;XM_005262847;XM_005262849;XM_005262850;XM_005262851;XM_005262852;XM_005262854;XM_006714141;XM_006714142;XM_006714143;XM_006714144;XM_006714145;XM_006714146;XM_006714147 AAF28953;AAF29012;AAF67836;AAH47883;AAH84583;AAI17222;AAI43490;AAI43492;AAI43493;AAN15221;BAA74928;BAA84923;BAA84924;BAC86336;BAG58628;CAH56418;CAI45995;EAX05906;EAX05907;EAX05908;EAX05909;EAX05910;EAX05911;EAX05912;NP_001070674;NP_001070675;NP_001070676;NP_001177978;NP_001287673;NP_001287674;NP_055748;NP_057295;O94979;XP_005262904;XP_005262906;XP_005262907;XP_005262908;XP_005262909;XP_005262911;XP_006714204;XP_006714205;XP_006714206;XP_006714207;XP_006714208;XP_006714209;XP_006714210 Hs.370024 1647546;1672514;1690896;1719599;1849899;2106591;2131403;2134570;2135872;2146657;2159001;2174560;2175283;5022200;5491745 A009A37;D4S2523E;G33437;L18426;RH123704;RH36083;RH98310;SEC31A;SEC31L1__5379;SHGC-19008;SHGC-24814;SHGC-50327;SHGC-57474;SHGC-59763;SHGC-67285 ABP125;ABP130;DKFZp686N07171;HSPC275;HSPC334;KIAA0905;MGC90305;SEC31L1 OTTHUMP00000160808;OTTHUMP00000160809;OTTHUMP00000160810;OTTHUMP00000218817;OTTHUMP00000218818;OTTHUMP00000218819;OTTHUMP00000218820;OTTHUMP00000218821;OTTHUMP00000218822;OTTHUMP00000218823;OTTHUMP00000218824;OTTHUMP00000218825;SEC31-like 1;SEC31-like protein 1;SEC31-related protein A;Sec31 homolog A;protein transport protein Sec31A;protein-transport protein SEC31;sec31-like 1 (s. cerevisiae);web1-like protein;yeast Sec31p homolog APPROVED protein-coding ENSG00000138674 HGNC:17052 15314 610257 REVIEWED 1317006 SEC31B SEC31 homolog B (S. cerevisiae) This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008] 10 10 10 q24.31 95984251 96017442 - 102246397 102279711 - 100486646 100519838 - 6480464;6907045;8554872 10788476;12477932;14702039;16385451;16495487;17332742;21150319;23362303;23400010;24457600;8889548 25956 B4DGE3;B4E2H6;E9PKR7;F6TTE0;Q9NQW1 ABBA01063225;ABBA01063226;AF274863;AF279139;AK093637;AK098002;AK128343;AK289975;AK294551;AL080141;AL133352;AMYH02023657;AMYH02023658;BC034946;BC044569;BC053949;BC071580;BC144312;BC144313;BM719543;BX640914;CH471066;NM_015490 AAF78243;AAH34946;AAI44314;AAI48658;BAF82664;BAG57754;CAB45735;CAE45955;EAW49821;EAW49822;EAW49823;EAW49824;NP_056305;Q9NQW1 Hs.18889 1659980;2109819;2177583;5022651;5022931 D11S2921;RH69723;SEC31L2_9438;SHGC-33917;ksks372 DKFZp434M183;SEC31B-1;SEC31L2 OTTHUMP00000020817;SEC31-like 2;SEC31-like protein 2;SEC31-related protein B;protein transport protein Sec31B;secretory pathway component Sec31B-1 APPROVED protein-coding ENSG00000075826 HGNC:23197 15315 610258 REVIEWED 1351813 SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae) The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008] 3 3 3 q21.3 126201130 126220443 + 127770402 127790526 + 128052369 128071683 + 6480464;6907045 10212142;10601334;11054417;12477932;14644099;14702039;15489334;16196087;16303743;17110338;17353931;18480044;18555783;19615732;20676083;20706999;20937808;21102557;21139048;21252943;21406962;21890473;21903422;21906983;21963094;21987572;21987770;22190034;22375059;22505607;22796945;22990118;23125841;23455922;23464991;23798571;23956138;8945469;9512475;9565615;9585408;9631292;9792704 29927 B3KME8;B3KNF6;B4DR61;C9JXC6;P61619 ABBA01020888;AC011311;AF077032;AF084458;AF346602;AK001689;AK027423;AK027452;AK027454;AK027458;AK074706;AK074907;AK074928;AK075148;AK129816;AK299118;AL831940;AL832821;AMYH02007613;BC002951;BC029970;CH471052;CQ783967;NM_013336 AAD27765;AAD39847;AAI52928;AAI56689;AAK29083;BAC11283;BAC11298;BAC11434;BAG50960;BAG51318;BAG51323;BAG51324;BAG51326;BAG51989;BAG61173;CAD38592;CAF86948;CAI46127;EAW79324;EAW79325;EAW79326;EAW79327;NP_037468;P61619 Hs.518236 1683012;1773568;2152320;2166099;2183278 D3S4244;RH98730;SHGC-33998;SHGC-77295;SHGC-77312 HSEC61;SEC61;SEC61A OTTHUMP00000216015;OTTHUMP00000216020;Sec61 alpha-1;protein transport protein SEC61 alpha subunit;protein transport protein Sec61 subunit alpha;protein transport protein Sec61 subunit alpha isoform 1;sec61 homolog APPROVED protein-coding ENSG00000058262 HGNC:18276 15316 609213 REVIEWED 1320628 SEC22B SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus proteins.[provided by RefSeq, Sep 2009] 1 1 q21.1 227516 248095 - 120155942 120176521 - 61611;1580863;6480464 9094723 11001058;11035026;11042152;12477932;15029241;15203218;15272311;15308636;15489334;16354670;17081065;17255364;18781797;19322201;19471022;19738201;20562859;21139048;21890473;21906983;21963094;21987572;21988832;22053931;22264512;22505724;22939629;23000965;23246001;23383273;23798571;24332808;24457600;24583282;24654937;24705552;24816145;8889548;8889549;9166403;9653160 9554 O75396 AA135767;AC245008;AF047442;AI085383;AK289875;AL359758;BC001364;BU741516;BX537145;CD619408;NM_004892 AAC39893;AAH01364;ABM83510;ABM86727;BAF82564;NP_004883;O75396 Hs.632438 1689247 RH45098 ERS-24;SEC22L1 ER-Golgi SNARE of 24 kDa;OTTHUMP00000205451;SEC22 vesicle trafficking protein-like 1;SEC22 vesicle-trafficking protein homolog B;vesicle-trafficking protein SEC22b APPROVED protein-coding HGNC:10700 04939 604029 REVIEWED 1314281 SEC61A2 Sec61 alpha 2 subunit (S. cerevisiae) The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 10 10 10 p14 12101504 12141488 + 12171640 12211957 + 12129641 12169958 + 1580863;6480464;6907045 10212142;11217851;12477932;14702039;15342556;16385451;17110338;19615732;20562859;21890473;21906983;21963094;21987572;24250222;9565615;9631292 55176 A6NIF9;A6NK38;B3KQ68;C9JJV4;F2Z2C7;F8W776;H7C069;H7C1Q9;H7C1S8;Q8TC24;Q9H9S3 ABBA01034668;ABBA01034669;ABBA01034670;ABBA01034671;ABBA01034672;AC073160;AF346603;AK001440;AK022027;AK022640;AK057532;AK292295;AK301841;AMYH02022140;AMYH02022141;AMYH02022142;BC026179;BP212860;BX645143;CH471072;NM_001142627;NM_001142628;NM_018144;NR_024576;NR_024577 AAH26179;AAK29084;ADZ15735;BAA91692;BAB13955;BAB14148;BAF84984;BAG51930;BAG63284;EAW86323;EAW86324;EAW86325;EAW86326;NP_001136099;NP_001136100;NP_060614;Q9H9S3 Hs.112955 1670225;1672206;1674997;1731086;1774804;2190875 D10S293;MARC_10123-10124:1001523166:3;RH68542;SHGC-33307;SHGC-64287;WI-20796 FLJ10578 OTTHUMP00000019099;OTTHUMP00000019100;OTTHUMP00000019101;OTTHUMP00000019102;Sec61 alpha form 2;protein transport protein Sec61 subunit alpha;protein transport protein Sec61 subunit alpha isoform 2;sec61 alpha-2 APPROVED protein-coding ENSG00000065665 HGNC:17702 15317 REVIEWED 1319800 SEC24A SEC24 family member A The protein encoded by this gene belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 5 5 5 q31.1 130110657 130189971 + 133984472 134063601 + 134648785 134727911 + 1580863;6480464;6907045;8554872 10075675;10329445;11031247;11252894;12477932;12766061;15489334;16189514;17255961;17499046;21139048;21145461;21252943;21890473;21906983;21988832;22820839;22863883;22939629;24816145 10802 B4E205;H0Y9J6;O95486 ABBA01068749;ABBA01068750;ABBA01068751;ABBA01068752;AC010301;AC106763;AJ131244;AK026545;AK304060;AL080064;AL137677;AMYH02012249;AMYH02012250;AMYH02012251;BC009325;BC019341;BM127845;CD109783;CD677660;CH471062;L81692;NM_001252231;NM_021982;XM_005271854;XM_006714523 AAH09325;AAH19341;BAG64967;CAA10334;EAW62245;EAW62246;NP_001239160;NP_068817;O95486;XP_005271911;XP_006714586 Hs.595540 1339431;1644949;1678511;2120596;2140709;2150083;5019695;7186376 A009F27;D5S458;G32508;RH36020;RH45972;RH79864;STS-H02274 OTTHUMP00000223122;SEC24 family, member A;SEC24 related gene family, member A;SEC24-related protein A;protein transport protein Sec24A APPROVED protein-coding ENSG00000113615 HGNC:10703 607183 REVIEWED 1312761 SEC61B Sec61 beta subunit The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq, Jul 2008] 9 9 9 q22.32-q31.3 72498433 72506764 + 101984570 101992901 + 99222288 99230619 + 6480464;6907045;8554872 10212142;10508919;10601334;10799540;12477932;15164053;15489334;16015337;16083285;17081983;17215517;17360537;18555783;19602593;19738201;20516149;20676083;20937808;21139048;21182205;21255561;21343306;22505607;22623428;22645275;22710939;23129660;23533635;23606741;23874384;24816145;8107851;8125298;8945469;9512475;9565615;9585408;9631292;9792704 10952 P60468;Q53FA5;S4R3B5 ABBA01042903;AJ293399;AK223384;AL137067;AMYH02021329;BC001734;CH471105;CR456883;CR542159;L25085;NM_006808 AAA19706;AAH01734;BAD97104;CAG33164;CAG46956;EAW58912;NP_006799;P60468 Hs.191887 1664920;1772288;1856869 D9S2083;SHGC-30916;WI-11370 OTTHUMP00000021784;Sec61 complex, beta subunit;protein translocation complex beta;protein transport protein SEC61 beta subunit;protein transport protein Sec61 subunit beta APPROVED protein-coding ENSG00000106803 HGNC:16993 06715 609214 REVIEWED 1318878 SEC62 SEC62 homolog (S. cerevisiae) The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008] 3 3 3 q26.2 168083886 168115467 + 169684580 169716161 + 169966792 169998373 + 1580863;6480464;6907045;8554872 10683767;10799540;12477932;14702039;15489334;16547154;16713569;17081983;18029348;20071467;20195357;20669223;21139048;21557272;21906983;21963094;21988832;22190034;22197383;22375059;22505724;22648169;22682366;23000965;23287549;23764425;24304694;24816145;9020021 7095 F8WCJ7;F8WDG8;F8WF48;Q99442 AB024586;ABBA01058698;ABBA01058699;ABBA01058700;AC008040;AK025548;AK057365;AMYH02008104;BC003677;BC007040;BC012035;BC089399;BC105971;BX475495;BX537668;BX648539;CH471052;D87127;KC005990;NM_003262;U93239 AAB51391;AAH03677;AAH12035;AAI05972;ACE86871;ACE87559;AGO04507;BAA13254;BAB12685;EAW78527;EAW78528;EAW78529;EAW78530;EAW78531;EAW78532;EAW78533;NP_003253;Q99442 Hs.744859 1656003;1668329;1687205;1850189;1853974;1856920;2111512;2118562;2134485;2134487;2191331;5015881;5016478;5022578;5109281 A001Y45;D1S1423;D1S1425;D20S1089;G19801;GDB:335751;GDB:434012;MARC_17479-17480:1016465460:1;RH16643;RH48979;RH69313;SHGC-77511;SHGC-77520;STS-AA031543;WI-20113 Dtrp1;FLJ32803;HTP1;TLOC1;TP-1;hTP-1 OTTHUMP00000213389;OTTHUMP00000213390;membrane protein SEC62, S.cerevisiae, homolog of;translocation protein 1;translocation protein SEC62 APPROVED protein-coding ENSG00000008952 HGNC:11846 03706 602173 REVIEWED 5132552 SEC63P1 SEC63 homolog (S. cerevisiae) pseudogene 1 1 1 1 96264972 96266231 + 98011257 98012516 + 97545701 97546960 + 100420341 ABBA01045475;AL356457;AMYH02001538;NG_008807;NG_027119 1688624;2182939 RH17430;RH80889 pseudo HGNC:41953 INFERRED 5132553 SEC63P2 SEC63 homolog (S. cerevisiae) pseudogene 2 4 4 4 35929061 35930967 + 35489434 35491342 + 35487812 35489720 + 100420287 ABBA01074286;AC093761;AMYH02009015;NG_025200 pseudo HGNC:41954 INFERRED 1319664 SEC24B SEC24 family member B The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The role of this gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q25 107677967 107755474 + 110354969 110461615 + 109433815 109540459 + 1580863;6480464;6907045;8554872 10075675;10329445;11031247;11252894;12477932;16094384;16344560;17081983;17474147;17499046;18713835;19542561;19706601;20332099;20562859;20811636;21139048;21145461;22323290;22939629;23592378 10427 O95487 AA194999;ABBA01063775;ABBA01063776;ABBA01063777;AC105314;AC138782;AI193145;AJ131245;AK300278;AK304234;AMYH02009897;AMYH02009898;BC040137;BC117135;BC143268;BC143269;BC143276;BM802180;CH471057;DA498444;NG_032166;NM_001042734;NM_001300813;NM_006323;XM_005262688;XM_005262689;XM_005262691 AAH40137;AAI17136;AAI43269;AAI43277;BAG62038;BAG65103;CAA10335;EAX06241;NP_001036199;NP_001287742;NP_006314;O95487;XP_005262745;XP_005262746;XP_005262748 Hs.292472 1649997;1661098;1796730;2150326;2162816;2167600;5127074 D4S2646;SEC24B_1319;SGC33972;SHGC-23029;SHGC-36718;SHGC-59599;SHGC-67946 MGC48822;SEC24 OTTHUMP00000220118;OTTHUMP00000220119;OTTHUMP00000224463;SEC24 family, member B;SEC24 related gene family, member B;Sec24-related protein B;protein transport protein Sec24B;secretory protein 24 APPROVED protein-coding ENSG00000138802 HGNC:10704 06216 607184 REVIEWED 1343356 SECISBP2 SECIS binding protein 2 The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. The gene described in this record encodes a nuclear protein that functions as a SECIS binding protein. Mutations in this gene have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 9 9 9 q22.2 62515571 62559423 + 91933394 91974561 + 89318473 89359663 + 1580863;6480464;7240710;8554872;8699517 10637234;11076863;11118223;11230166;12095701;12403468;12477932;14702039;15231748;15342556;15489334;15489336;16228000;16381901;16713569;16782878;16962588;17846120;18948268;19004874;19106619;19265499;19467292;19602558;19803747;20378690;20877624;21084748;21832049;22247018;22308032;24850884;8889548 79048 B4DR97;B4DZC7;Q4V370;Q5HYY5;Q96T21 AB208940;ABBA01004609;ABBA01004610;ABBA01004611;ABBA01004612;AF380995;AK023078;AK090608;AK127655;AK290182;AK299161;AK302852;AL136881;AL160054;AL929575;AMYH02021186;BC001189;BC023142;BC036109;BC068466;BC099900;BG572344;BM666620;BP219148;BX000356;BX648787;CH471089;DR002073;NG_012177;NM_001282688;NM_001282689;NM_001282690;NM_024077;XM_005252193;XM_005252195;XM_005252196;XM_005252198;XM_005252202;XM_006717282;XR_428537 AAH01189;AAH23142;AAH36109;AAH99900;AAK57518;BAB14393;BAD92177;BAF82871;BAG61209;BAG64039;CAB66815;CAH10382;CAL37690;CAL38577;EAW62763;EAW62764;NP_001269617;NP_001269618;NP_001269619;NP_076982;Q96T21;XP_005252250;XP_005252252;XP_005252253;XP_005252255;XP_005252259;XP_006717345 Hs.59804;Hs.667515 1663329;1664537;1678191;2130317;2162923;5015861;5022578;5037552;7185938 D10S16;D1S1423;D8S2279;RH68462;RH69402;RH91496;SGC31294;WI-18160 DKFZp686C09169;FLJ45753;SBP2 OTTHUMP00000021618;OTTHUMP00000069896;SECIS-binding protein 2;selenocysteine insertion sequence binding protein 2;selenocysteine insertion sequence-binding protein 2 APPROVED protein-coding ENSG00000187742 HGNC:30972 07408 607693;609698 REVIEWED 1605418 SECISBP2L SECIS binding protein 2-like ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; bisphenol A 15 15 15 q21.1 26174444 26232374 - 49280835 49338760 - 48988638 49046563 - 6480464;8554872 12477932;12766061;15489334;16344560;21139048;21566536;22530054;9039502 9728 H0YKY4;H0YNT4;J3KPI1;Q93073 ABBA01039133;AC091073;AK307480;AK308183;AMYH02030390;BC008635;BC033001;BM129242;CD678675;CH471082;D87445;DA394911;NM_001193489;NM_014701 AAH33001;BAA13386;EAW77360;EAW77361;EAW77362;NP_001180418;NP_055516;Q93073 Hs.9997 1339989;1646150;1662724;1678547;1704902;1727499;1729690;2116652;2175133 D15S1238;D15S126;D15S94;G30363;G63007;RH91336;SHGC-17196;SHGC-37619;SHGC-79926 KIAA0256;SBP2L;SLAN SECIS-binding protein 2-like;selenocysteine insertion sequence-binding protein 2-like protein-coding ENSG00000138593 HGNC:28997 17181 615756 VALIDATED 1351792 SEDLP6 spondyloepiphyseal dysplasia, late, pseudogene 6 11031107 27192 AC009235 HGNC:10715 1314321 SECTM1 secreted and transmembrane 1 This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq, Jul 2008] 17 17 17 q25 76872243 76885307 - 80278900 80291921 - 82321024 82334045 - 1302741;1580863;6480464 9480746 10652336;12477932;12761501;15489334;16344560;19056867;19423540;20406964;20438785;21749909;21890473;21963094;21987572;24157461;24211252;24250222;8125298 6398 J3KS40;J3KSN0;J3KTR4;J3QKK2;J3QQU6;J3QR99;J3QRU5;Q8WVN6 ABBA01019675;AC132872;AK223068;AK223104;AK290708;AK312980;AMYH02034152;AX055560;BC017716;BI861812;CH471099;DA589733;NM_003004;U77643;XM_005256392 AAC52044;AAH17716;ACE86651;ACE87333;ADZ15868;BAD96788;BAD96824;BAF83397;BAG35817;CAC22100;EAW89766;NP_002995;Q8WVN6;XP_005256449 Hs.558009 K12 secreted and transmembrane protein 1;type 1a transmembrane protein APPROVED protein-coding ENSG00000141574 HGNC:10707 04004 602602 REVIEWED 1314869 SEC61G Sec61 gamma subunit The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the gamma-subunit protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 7 7 7 p11.2 54925611 54932604 - 54819940 54826939 - 54752247 54759246 - 6480464;6907045;8554872 10212142;11042152;11076863;12477932;15489334;15489336;16381901;18976975;21139048;23443559;24250222;24816145;8107851;8945469;9565615;9631292 23480 P60059 ABBA01011845;AC074351;AF054184;AF086539;AK308617;AK311845;AMYH02015728;BC009480;BC051840;BU932672;CD385140;CH236957;CH471201;CR456979;NM_001012456;NM_014302 AAC99401;AAH09480;AAH51840;BAG34787;CAG33260;CAL38284;EAW50960;EAW50961;NP_001012474;NP_055117;P60059 Hs.488282 2186920 SHGC-2996 SSS1 OTTHUMP00000159590;OTTHUMP00000209148;OTTHUMP00000209149;protein transport protein SEC61 gamma subunit;protein transport protein Sec61 subunit gamma APPROVED protein-coding ENSG00000132432 HGNC:18277 15318 609215 REVIEWED 1322649 SEL1L2 sel-1 suppressor of lin-12-like 2 (C. elegans) ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 20 20 20 p12.1 13900109 14046640 - 13829635 13975979 - 13848989 13995333 - 6480464;8554872 12477932;14729273;16344560;17370265;20379614 80343 C9JNX3;F8WE69;H7C4S6;Q5TEA6 ABBA01053975;ABBA01053976;ABBA01053977;ABBA01053978;AK302170;AL109657;AL117333;AL137678;AL354683;AMYH02036724;AMYH02036725;AMYH02036726;BC035741;BX649006;DA857535;DB468041;DC396776;DC398207;NM_001271539;NR_073206;NR_073207;XM_006723646;XM_006723647;XM_006723648;XM_006723649;XM_006723650;XM_006723651;XM_006723652;XM_006723653;XM_006723654;XM_006723655;XM_006723656;XR_430270;XR_430271 BAG63537;NP_001258468;Q5TEA6;XP_006723709;XP_006723710;XP_006723711;XP_006723712;XP_006723713;XP_006723714;XP_006723715;XP_006723716;XP_006723717;XP_006723718;XP_006723719 Hs.590879 1670825;1673755;1710888;2162949 D7S532E;HSC24E072;SHGC-84223;Z94385 C20orf50;DJ842G6.2;DKFZp434C1826;FLJ22324;dJ631M13.1 OTTHUMP00000030307;OTTHUMP00000214481;chromosome 20 open reading frame 50;protein sel-1 homolog 2;sel-1L2;suppressor of lin-12-like protein 2 protein-coding ENSG00000101251 HGNC:15897 614289 VALIDATED 1604048 SEL1L3 sel-1 suppressor of lin-12-like 3 (C. elegans) ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 1,3-benzothiazole-2-thiol; 2,3,7,8-tetrachlorodibenzodioxine; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid 4 4 4 p15.2 26197112 26312612 - 25749049 25864647 - 25747427 25863590 - 6480464;8554872 12477932;16169070;17457313;20379614;20708005;21906983;22268729;9847074;9872452 23231 D6RCE1;D6RDH1;D6RF11;H0Y8P8;H0Y9M6;H0YA36;Q68CR1 AB018289;ABBA01032706;ABBA01032707;AC020706;AC092436;AC133961;AK025282;AK123293;AK289687;AK300219;AMYH02008916;AMYH02008917;BC009945;BC029422;BC041046;BC060867;CH471069;CR749817;DB479874;HY152163;NM_001297592;NM_001297594;NM_015187;XM_005248143;XM_006713956;XM_006713957 AAH09945;AAH29422;AAH60867;BAA34466;BAF82376;BAG61987;CAH18677;EAW92843;EAW92844;NP_001284521;NP_001284523;NP_056002;Q68CR1;XP_005248200;XP_006714019;XP_006714020 Hs.479384 1649130;1670366;1711964;1751549;2115501;2125668;2166914;2174275;2174277 A005L10;G01952;G20304;RH118428;RH48103;SHGC-105331;SHGC-59194;SHGC-59785;SHGC-64035 DKFZp781J1697;FLJ21629;FLJ41299;KIAA0746;Sel-1L3 OTTHUMP00000218046;OTTHUMP00000218047;OTTHUMP00000218048;protein sel-1 homolog 3;suppressor of lin-12-like protein 3 APPROVED protein-coding ENSG00000091490 HGNC:29108 11105 VALIDATED 1351070 SEL1L sel-1 suppressor of lin-12-like (C. elegans) The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 14 14 14 q31 61979138 62040094 - 81937891 82000205 - 81471547 81533861 - 1580863;2317190;6480464;6907045;8554872 14508516 10051412;10496078;10746565;11349831;11544613;11809711;12030374;12477932;12553058;12754519;12975309;14729273;15307954;15342556;16186509;16303743;16331677;16331889;16344560;16412574;17822620;17967421;18264092;18314878;18502753;18711132;18811591;19135427;19204006;19346256;19524542;19706418;20416077;21139048;21359144;21454652;21632540;21656579;21857022;21903092;21903422;21988832;22119785;22190034;22268729;22350780;22905195;22939629;23097496;23356641;23363602;23464991;23867461;23956138;24043630;24311781;24324549;24347629;24356957;24366871;9417916;9858735 6400 G3V3B3;Q3ZCU6;Q9UBV2 AB020335;AB024763;ABBA01030607;AF052059;AF157516;AF198647;AK075511;AL121769;AL136039;AMYH02029631;AY358651;BC040498;BC054336;BP358857;CA447094;CB986742;CH471061;DA351814;DA833312;ES313707;NG_030335;NM_001244984;NM_005065;U11037;XM_005267988;XM_005267989 AAB52516;AAF24176;AAF29413;AAH40498;AAI72282;AAI72577;AAL40905;AAQ89014;BAA87904;BAA89204;EAW81344;NP_001231913;NP_005056;Q9UBV2;XP_005268045;XP_005268046 Hs.181300 1663002;1664373;1682784;1708290;1728885;1728887;1728891;1728895;1728897;2117895;2127336;2141285;2162840;2164527;2167060;2176667 G44758;G44759;G49444;G49445;G49446;RH45342;RH66038;RH66049;RH67780;RH79115;RH98263;SHGC-58050;SHGC-64261;SHGC-81129;STS-AA031823;STS-U11037 IBD2;PRO1063;SEL1-LIKE;SEL1L1;sel-1L OTTHUMP00000245987;Suppressor of lin 12 (sel-1), C. elegans, homolog of;protein sel-1 homolog 1;sel-1 (suppressor of lin-12, C.elegans)-like;sel-1 suppressor of lin-12-like 1;suppressor of lin-12-like protein 1 APPROVED protein-coding ENSG00000071537 HGNC:10717 07532 602329 REVIEWED 1321602 SEC24C SEC24 family member C The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q22.2 68787456 68815097 + 75504039 75531933 + 73744373 73772175 + 1580863;6480464;6907045;8554872 10075675;10214955;10329445;11031247;11252894;12477932;15013749;15302935;15489334;15899885;16189514;16751776;17373700;18029348;18329616;18692470;19738201;20085233;21139048;21145461;21454670;21832049;21890473;21906983;21963094;21988832;22404651;22586326;22623428;22779921;22863883;22939629;23000965;23288844;23658022;24250222;24550385;24816145;25027693;25036637;7584044 9632 G5EA31;P53992 ABBA01020309;ABBA01020310;ABBA01020311;AC022400;AK098512;AK298598;AK299826;AK303085;AK309918;AK316451;AL596994;AL832110;AMYH02023338;AMYH02023339;BC018928;BQ710971;CA419040;CH471083;D38555;NM_004922;NM_198597 AAH18928;ADZ15543;BAA07558;BAG60784;BAG61695;BAG64196;BAH14822;EAW54515;EAW54516;EAW54517;NP_004913;NP_940999;P53992 Hs.81964 1659447;1661790;1686532;1796732;1851664;2141782 D10S2187;RH25307;RH44071;RH44836;SEC24C_392;WI-18926 KIAA0079 OTTHUMP00000019829;OTTHUMP00000019830;OTTHUMP00000019831;SEC24 family, member C;SEC24 related gene family, member C;SEC24-related protein C;protein transport protein Sec24C APPROVED protein-coding ENSG00000176986 HGNC:10705 06217 607185 REVIEWED 1352568 SEH1L SEH1-like (S. cerevisiae) The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 18 18 18 p11.21 12830517 12870069 + 12947983 12987536 + 12947984 12987566 + 1580863;6480464 10601273;12196509;12228227;12477932;14517296;14702039;15146057;15489334;16449650;17207965;17360435;17363900;19322201;19615732;20360068;20562859;20676042;21139048;21145461;21825076;21890473;21906983;21988832;22053931;22190034;22505724;22863883;23000965;24163370;24250222;24332808;24654937;25027693 81929 K7ELV2;K7ENI5;K7EP88;K7EPZ5;Q96EE3 ABBA01074032;AF136976;AF255625;AF431970;AF514996;AK056940;AK291226;AK314403;AMYH02034341;AMYH02034342;AMYH02034343;AMYH02034344;AP002449;BC012430;BX538037;CB990796;CH471113;NM_001013437;NM_031216;XM_005258152;XM_005258153;XM_006722359 AAG49437;AAH12430;AAM21169;AAM44214;AAM76707;ADQ32362;BAB71317;BAF83915;EAX01530;EAX01531;NP_001013455;NP_112493;Q96EE3;XP_005258209;XP_005258210;XP_006722422 Hs.301048 1654339;1667343;1683783;1857813;1857815;5022200;5022651;5024553;5037552 A006H17;D11S2921;D18S1328;D8S2279;G20806;G33182;L18426;RH42021;RH47087 SEC13L;SEH1A;SEH1B;Seh1 SEH1-like;nucleoporin SEH1;nup107-160 subcomplex subunit SEH1;sec13 like protein;sec13-like protein APPROVED protein-coding ENSG00000085415 HGNC:30379 15319 609263 REVIEWED 1603383 SELK selenoprotein K This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This selenoprotein is localized to the endoplasmic reticulum and is highly expressed in the heart, where it may function as an antioxidant. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 53886504 53893267 - 53919226 53925989 - 53885199 53891962 - 6480464 11042152;12477932;12775843;14702039;15489334;16341674;16962588;18029348;21048031;21220695;22016385;23133653;23142642;24144296 58515 Q9Y6D0 ABBA01024471;AC012467;AF085359;AF161415;AF537132;AK123406;AK289594;AMYH02006831;BC013162;BM762385;CH471055;NM_021237 AAD40194;AAF28975;AAH13162;AAN61473;BAF82283;EAW65301;NP_067060;Q9Y6D0 Hs.58471;Hs.640242 HSPC030;HSPC297;MGC17057 OTTHUMP00000213230;OTTHUMP00000213231 APPROVED protein-coding ENSG00000113811 07448 607916 REVIEWED 1603181 SELM selenoprotein M This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This gene is expressed in a variety of tissues, and the protein is localized to the perinuclear structures. [provided by RefSeq, Jul 2008] 22 22 22 q12.2 15300895 15303683 - 31500763 31503551 - 31104777 31107565 - 6480464 11839807;12477932;15489334;18029348;21048031;24284396;24332979 140606 Q8WWX9 ABBA01055320;AC005005;AMYH02038227;AY043487;BC013421;BC030236;BC042299;BC053846;BC068004;CH471095;NM_080430 AAH13421;AAH30236;AAH68004;AAK95397;EAW59934;EAW59935;NP_536355;Q8WWX9 Hs.55940 1693828;1778830 SHGC-57277;STS-W72233 MGC40146;SEPM OTTHUMP00000199395;OTTHUMP00000199396;selenoprotein SelM APPROVED protein-coding ENSG00000198832 15320 610918 REVIEWED 1605929 SELO selenoprotein O This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34514319 34530956 + 50639408 50656045 + 50200979 50217616 + 6480464;8554872 10591208;12477932;12775843;15461802;15489334;21139048;21963094;223596 83642 Q9BVL4;Q9BZU0 ABBA01011374;ABBA01011375;AF274946;AL022328;AMYH02038600;AY324823;BC001099;BC020510;BC032384;BC051758;BC110866;CH471138;CR456464;NM_031454 AAH01099;AAH20510;AAI10867;AAK07523;AAP85540;CAG30350;EAW73504;EAW73505;EAW73506;NP_113642;Q9BVL4 Hs.365405 1667952;1773017 RH78658;SHGC-58240 MGC131879 OTTHUMP00000028552 APPROVED protein-coding ENSG00000073169 07449 607917 REVIEWED 1342543 SELL selectin L This gene encodes a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. The encoded protein contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. The gene product is required for binding and subsequent rolling of leucocytes on endothelial cells, facilitating their migration into secondary lymphoid organs and inflammation sites. Single-nucleotide polymorphisms in this gene have been associated with various diseases including immunoglobulin A nephropathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] 1 1 1 q23-q25 142769612 142790649 - 169659806 169680843 - 169690665 169711702 - 1580863;2303708;5685675;5685677;5686285;5685684;2313598;5685687;6480101;5685701;5685695;5685703;5685698;5685700;5685705;5685707;5685685;2316357;5685696;5685693;5685697;5685706;6480464;7175284;7175290;1625253;7175303;7175511;7240710 11095659;11828340;15677732;15998669;16026013;16214426;17452405;17845203;17924279;18054560;18279101;19375498;19465442;19489247;20182448;20512127;21437035;21465128;21484243;21515793;21641115;21760899;22044737;22119815;22391529 10377245;10449768;10725346;10747985;10882119;10950950;11064106;11466384;11706008;11821431;11907045;12036888;12042326;12063026;12144128;12147693;12165498;12186696;12200076;12200386;12202158;12370391;12431911;12477932;12496379;12532021;12588680;12595908;12609846;12736247;12738381;12844406;12871600;12874338;12889478;12918706;1375831;1376638;14533031;14576059;14585903;14592723;14597772;14615387;14737745;15093751;15178693;15192100;15249540;15470072;15506984;15776384;15831305;16270299;16335952;16344560;16352650;16357481;16565092;16585636;16690519;16712791;16738933;16740600;16916660;1692315;16974056;16982492;17028146;17055225;17056762;1717161;17407075;17465998;17515951;17525255;17548643;17698668;17703412;17706337;17765649;17890399;17954174;18028430;18032547;18089680;18182036;18191640;18250165;18375392;18385135;18496641;18582506;18606703;18619508;18665829;18713749;18713968;18829897;18973547;18974842;19052753;19064610;19074885;19088176;19118161;19129194;19212205;19240957;19258923;19419934;19451621;19462221;19536175;19654311;19670701;19837408;19913121;19954409;20065025;20193033;20212041;20220571;20306662;20469932;20485444;20503287;20507883;20580062;20628086;20708610;20925194;21197561;21237580;21316337;21521525;21546114;21584225;21664913;21869829;22068558;22159147;22505724;22627390;22836626;22842622;22921892;22941246;22977256;23028631;23319734;23442851;23487023;23571167;23573259;23658780;23796515;23925765;23927766;24127491;24399259;24595810;24631064;2473156;25095634;2509939;2663882;2664786;7488174;7539755;7680663;8125298;8986819;9024699;9538010;9625756 6402 P14151;Q8WW79 ABBA01027947;ABBA01027948;AI253539;AJ246000;AK225713;AK298705;AK312673;AL021940;AMYH02002115;AY233976;AY367061;BC020758;BP393094;CB164568;CH471067;DB271854;DB482055;DC378123;M25280;M32406;M32407;M32408;M32409;M32410;M32411;M32412;M32413;M32414;NG_016132;NM_000655;NR_029467;X16070;X16150;X17519 AAB60700;AAC63053;AAH20758;AAO48272;AAQ67701;ABM82302;ABM85480;BAG35555;BAG60862;CAA34203;CAA34275;CAB43536;CAB43537;CAB55488;EAW90855;EAW90856;EAW90857;EAW90858;EAW90859;NP_000646;P14151 Hs.728756 1692990;1701656;1721651;1851211;2115879;2135935;2161603;2162289 AL034213;D1S3431;G59836;RH104485;RH11088;RH11089;RH17452;WI-11175 CD62L;LAM-1;LAM1;LECAM1;LEU8;LNHR;LSEL;LYAM1;Leu-8;Lyam-1;PLNHR;TQ1;hLHRc CD62 antigen-like family member L;L-selectin;OTTHUMP00000032696;gp90-MEL;leukocyte adhesion molecule 1;leukocyte surface antigen Leu-8;leukocyte-endothelial cell adhesion molecule 1;lymph node homing receptor;lymphocyte adhesion molecule 1;pln homing receptor APPROVED protein-coding ENSG00000188404 HGNC:10720 153240 REVIEWED 1312738 SEC63 SEC63 homolog (S. cerevisiae) The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008] 6 6 6 q21 108935760 109025964 - 108188960 108279482 - 107867756 107958278 - 1580863;6480464;6907045;7240710;8554872;8699517 10219736;10543453;10799540;11023840;12477932;14702039;15133510;15489334;16196087;16303743;16341674;16344560;16835903;17353931;17456004;18224332;20095989;20408955;21139048;21251912;21890473;21903422;21906983;21963094;22375059;23000965;23166619;23209713;23287549 11231 A6PVC9;F8WB27;Q9UGP8 ABBA01026162;ABBA01026163;ABBA01026164;AF100141;AF119883;AI559292;AJ011779;AJ420532;AK001465;AK027374;AK074835;AL024507;AL137338;AMYH02014261;BC001153;BC009066;BC023598;BC047221;BC048287;BE972247;BM764168;CH471051;DB049187;NG_008270;NM_007214;X75689 AAC83375;AAF69637;AAH23598;AAH47221;AAH48287;BAG51309;BAG52012;CAB46275;CAB70701;EAW48392;NP_009145;Q9UGP8 Hs.26904 1654676;1674262;1678783;1688624;1807404;1816964;1817188;1817716;1818200;1821026;1832612;1832892;1838234;1838510;1845366;1846262;1955844;1955846;1955848;1955850;1955852;1955854;1955856;1955858;1955860;1955862;1955864;1955866;1955868;1955870;1955872;1955874;1955876;1955878;1955880;1955882;1955884;1955886;1955888;1955890;1955892;1955894;1955896;1955898;1955900;1955902;1955904;1955906;1955908;1955910;1955912;1955914;1955916;1955918;1955920;1955922;1955924;1955926;1955928;1955930;1955932;1955934;1955936;1955938;1955940;1955942;1955944;1955946;1955948;1955950;1955952;1955954;1955956;1955958;1955960;1955962;1955964;1955966;1955968;1955970;1955972;1955974;2121404;2143079;2150550;2182939;2212596;2212598;2212600;2212602;2212604;2212606;2212608;2212610;2212612;2219682;5015861;7185938 1914;D10S16;D6S2040;ECD04673;ECD09531;ECD09644;ECD09911;ECD10157;ECD11589;ECD17446;ECD17587;ECD20289;ECD20429;ECD23900;ECD24351;REN48784;REN48785;REN48786;REN48787;REN48788;REN48789;REN48790;REN48791;REN48792;REN48793;REN48794;REN48795;REN48796;REN48797;REN48798;REN48799;REN48800;REN48801;REN48802;REN48803;REN48804;REN48805;REN48806;REN48807;REN48808;REN48809;REN48810;REN48811;REN48812;REN48813;REN48814;REN48815;REN48816;REN48817;REN48818;REN48819;REN48820;REN48821;REN48822;REN48823;REN48824;REN48825;REN48826;REN48827;REN48828;REN48829;REN48830;REN48831;REN48832;REN48833;REN48834;REN48835;REN48836;REN48837;REN48838;REN48839;REN48840;REN48841;REN48842;REN48843;REN48844;REN48845;REN48846;REN48847;REN48848;REN48849;RH17430;RH17473;RH46852;RH80889;RH99154;SEC63_2452;SGC30691;stSG634007;stSG634008;stSG634009;stSG634010;stSG634011;stSG634013;stSG634014;stSG634015;stSG634017 DNAJC23;ERdj2;PRO2507;SEC63L OTTHUMP00000016937;SEC63-like;translocation protein SEC63 homolog APPROVED protein-coding ENSG00000025796 HGNC:21082 09783 174050;608648 REVIEWED 1603489 SELV selenoprotein V This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 36807457 36813038 + 40005753 40011326 + 39515113 39520686 + 6480464 12477932;12775843;15489334;21048031;22990118 348303 P59797 ABBA01040733;AC011500;AMYH02036097;AY324825;BC117331;CH471126;NM_182704 AAI17332;AAP85542;EAW56907;NP_874363;P59797 Hs.319284 2106593 SELV__5380 OTTHUMP00000232908 APPROVED protein-coding ENSG00000186838 12134 607919 REVIEWED 733754 SELENBP1 selenium binding protein 1 This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012] 1 1 1 q21.3 124452070 124460453 - 151336778 151345210 - 151364302 151372734 - 1580863;6480464 10799528;12477932;14702039;15108003;1540595;1553752;1602151;16169070;16189514;16344560;16380993;16502470;16645984;17192395;17207965;17343851;18029348;18163446;18435490;19056867;19118533;19596560;19615732;19896693;19924303;20332323;20354826;20480265;20530237;20615253;20628624;20706999;21143902;21338716;21497372;21900206;22072582;22939629;22990118;23483240;23704933;23720494;23977169;24457600;8157642;8453708;8889548;9027582 8991 A6PVX1;C9JVL0;F2Z2W8;F8WBA9;F8WCR4;H0Y532;Q13228;V9HWG1 ABBA01049393;AK023875;AK296661;AK298355;AK303815;AK309264;AK310044;AK315643;AL391069;AMYH02001879;BC009084;BC032997;BQ045424;CH471121;CR456852;DB288439;EU794660;NM_001258288;NM_001258289;NM_003944;U29091 AAB02395;AAH09084;AAH32997;ABM81657;ACJ13714;ADQ32717;BAB14709;BAG38010;BAG59258;BAG60599;BAG64765;CAG33133;EAW53443;EAW53444;EAW53445;NP_001245217;NP_001245218;NP_003935;Q13228 Hs.632460 1798496;1802466;1813498;1814952;1815442;1815922;1816254;1816256;1819354;1825780;1834418;1841520;1847600;1926028;1926030;1926032;1926034;1926036;1926038;1926040;1926042;1926044;1926046;1926048;1926050;1926052;1926054;1926056;1926058;1926060;1926062;1926064;1926066;1926068;1926070;1926072;1926074;1926076;1926078;1926080;1926082;1926084;1926086;1926088;1926090;1926092;1926094;1926096;1926098;1926100;1926102;1926104;1926106;1926108;1926110;1926112;1926114;1926116;1926118;1926120;1926122;2147055;2178293;2178295;2185851;2207682;2207684;2207686;2207688;2207690;2207692;2207694;2207696 A002D26;A008S07;ECD00086;ECD02119;ECD07770;ECD08507;ECD08757;ECD09001;ECD09168;ECD09169;ECD10744;ECD13998;ECD18357;ECD21957;G19959;REN33840;REN33841;REN33842;REN33843;REN33844;REN33845;REN33846;REN33847;REN33848;REN33849;REN33850;REN33851;REN33852;REN33853;REN33854;REN33855;REN33856;REN33857;REN33858;REN33859;REN33860;REN33861;REN33862;REN33863;REN33864;REN33865;REN33866;REN33867;REN33868;REN33869;REN33870;REN33871;REN33872;REN33873;REN33874;REN33875;REN33876;REN33877;REN33878;REN33879;REN33880;REN33881;REN33882;REN33883;REN33884;REN33885;REN33886;REN33887;SHGC-2948;WI-20043;stSG627137;stSG627138;stSG627139;stSG627140;stSG627141;stSG627142;stSG627143;stSG627144 FLJ13813;HEL-S-134P;LPSB;SBP56;SP56;hSBP;hSP56 56 kDa selenium-binding protein;OTTHUMP00000082403;OTTHUMP00000196309;epididymis secretory sperm binding protein Li 134P;selenium-binding protein 1 APPROVED protein-coding ENSG00000143416 HGNC:10719 05007 604188 REVIEWED 1602000 SELT selenoprotein T This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 3 3 3 q25.1 148734077 148761252 + 150321066 150348234 + 150603279 150630447 + 6480464 10567350;12477932;12775843;12975309;15489334;16169070;16303743;17503775;19322201;21890473;23913443;24250222;8619474;9110174 51714 P62341;Q6IAK0 ABBA01058925;AC069236;AF131856;AF195141;AK075006;AK300315;AMYH02007889;AY358095;AY358096;BC006012;BC008411;BC009556;BC009611;BC026350;BC036738;BC071699;BE221894;CD707391;CH471052;CR457154;NM_016275 AAD20063;AAF13696;AAH06012;AAH08411;AAH09556;AAH09611;AAH26350;AAH36738;AAH71699;AAQ88462;AAQ88463;BAG52048;BAG62067;CAG33435;EAW78827;EAW78828;EAW78829;NP_057359;P62341 Hs.369052 1663824;1678829;1678885;1686008;1686530;1694856;1744335;1849152;1849154;2169646 A001V27;G19688;G20683;G44299;GDB:451721;RH17143;RH65015;RH68371;RH80692;SHGC-59809 OTTHUMP00000216656;OTTHUMP00000216657;OTTHUMP00000216658;OTTHUMP00000216688 APPROVED protein-coding ENSG00000198843 07446 607912 REVIEWED 1320778 SEMA3B sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014] 3 3 3 p21.3 50277865 50287398 + 50305040 50314573 + 50267608 50277142 + 1580863;6480464 10196546;11085536;11717452;11809707;11922394;12477932;12810670;14702039;15273288;15489334;15831529;17452250;18356290;18458115;18757406;18922901;18985860;19367581;19548530;19683737;20088387;20124444;21988832;23292452;23906303;24280143;24402303;7748561;8603390;8633026 7869 B4DEK9;Q13214;Q6PI51 AB083186;AB209322;ABBA01024552;ABBA01024553;AF217991;AI309508;AK092182;AK098329;AK293678;AK308875;AMYH02006766;AX743094;BC009113;BC013975;BC024220;BC044602;BI603095;CH471055;CS067218;DC330072;HY146744;HY152168;NG_032938;NM_001005914;NM_001290060;NM_001290061;NM_001290062;NM_001290063;NM_004636;NR_110697;U28369;U73167;U90094 AAC02731;AAD09138;AAG17234;AAH09113;AAH13975;AAH24220;AAH44602;ACE87012;ACE87700;ADZ15978;BAB88870;BAC03823;BAD92559;BAG57120;CAD91051;CAI84572;EAW65062;EAW65063;EAW65064;EAW65065;EAW65066;EAW65067;NP_001005914;NP_001276989;NP_001276990;NP_001276991;NP_001276992;NP_004627;Q13214 Hs.82222 1342341;5037552;5037666;5108111 D1S466;D3S4347;D8S2279;RH41936 FLJ34863;LUCA-1;SEMA5;SEMAA;SemA;sema A(V);sema V;semaV OTTHUMP00000233990;OTTHUMP00000233991;semaphorin A;semaphorin V;semaphorin-3B;semaphorin-V APPROVED protein-coding ENSG00000012171 HGNC:10724 03179 601281 REVIEWED 1317472 SELPLG selectin P ligand This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011] 12 12 12 q24 108685066 108697071 - 109015671 109027735 - 108621895 108633959 - 1580863;6218987;6218985;6480464;6907045;8554872 22009715;22307784 10599889;10713099;10725346;10770806;10807781;10834846;11520793;11843835;11916843;11929779;11961238;12036880;12115638;12189248;12223514;12354382;12377939;12387735;12393521;12477932;12529243;12595306;12736247;12736689;12874338;12879153;14507929;14592840;14615387;14641238;14678816;14702039;15001428;15026421;15059608;15060624;15187162;15217824;15386532;15459589;15466853;15488708;15489334;15497463;15522894;15843584;15925831;15926890;16024226;16039046;16100264;16257118;16269612;16501095;16547281;16633357;17064811;17181632;17221329;17322099;17346310;17372146;17420019;17510705;17545190;17558413;17597069;17632516;17827388;17890399;17910894;17947642;18182036;18196517;18250165;18363812;18451333;18452987;18485118;18497306;18509085;18519846;18713749;18773738;19074885;19262138;19353220;19395438;19404397;19423540;19542463;19543284;19628338;19665434;19696154;19875629;19913121;19913879;20051472;20376705;20406964;20438785;20445017;20558823;20585324;20586826;20628086;20690162;20705591;20943886;21044367;21060818;21079683;21144558;21292497;21484243;21768350;21816455;21864485;21880775;22021370;22096244;22229154;22311979;22366582;22535539;22830021;22947939;23192782;23302872;23536680;23601501;23750651;23760234;23812215;23935488;24055812;24122451;24127491;24244398;24312591;7505206;7521878;7541799;7559387;7585949;7585950;8125298;8621728;8839831;9128259;9353122;9414280;9486531;9804815 6404 Q14242 ABBA01053130;AC007569;AC008119;AK098315;AK127638;AK225644;AK290395;AK295238;AK298742;AMYH02027155;AY331789;BC029782;CA427270;CH471054;CQ785370;CQ785372;DC339004;NM_001206609;NM_003006;U02297;U25956;XM_005269076;XM_005269077;XM_006719557 AAA74577;AAC50061;AAH29782;AAP81163;ABM83043;ABM86239;BAC05283;BAC87066;BAF83084;BAG58231;BAH12863;CAG14915;CAG14916;EAW97824;EAW97825;NP_001193538;NP_002997;Q14242;XP_005269133;XP_005269134;XP_006719620 Hs.591014 1337597;1342050;1685570;1775511;1796736;2125644;7183436 D12S1637;D12S1893;D12S84;RH80178;SELPLG_1234;STS-U02297 CD162;CLA;PSGL-1;PSGL1 OTTHUMP00000241014;OTTHUMP00000241015;P-selectin glycoprotein ligand 1;cutaneous lymphocyte-associated associated antigen APPROVED protein-coding ENSG00000110876 HGNC:10722 02845 600738 REVIEWED 730921 SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008] 7 7 7 p12.1 78289042 78525324 - 83587659 84122040 - 83958343 84492768 - 1580863;6480464;8554872 10196546;10520994;11604131;12456642;12477932;12610647;12690205;12730958;12853948;12879061;14500350;14656993;15080899;15485501;15517571;15550623;15831706;16085543;16330548;16380453;16424390;16672672;16684957;16791896;17369353;17390026;17569671;17607942;17631638;17684500;17989695;18053124;18056484;18160633;18272814;18443354;18625544;18787945;18818766;18831963;19296128;19480842;19684614;19817889;19855168;19886821;19909241;19957197;20051117;20379614;20382125;20655307;21205984;21656899;21784300;21835309;21842119;21878545;21884206;21953086;22093159;22184102;22210626;22416012;22497252;22565412;22685328;22697500;22875653;22927827;23251661;23343469;23372769;23398122;23453885;23593010;23906303;24124006;24654937;24713604;7748561;8269517;8889548;9331348 10371 C9J9C4;C9JD25;Q14563 ABBA01045898;ABBA01045899;ABBA01045900;ABBA01045901;AC004028;AC004451;AC004848;AC004907;AC006322;AC073221;AK289954;AMYH02016179;AMYH02016180;AMYH02016181;AMYH02016182;AMYH02016183;AMYH02016184;AMYH02016185;AMYH02016186;AMYH02016187;AX743092;BC111416;BM723807;BU186364;BX491494;CH236949;CH471091;CR748125;CS067216;DR002146;JA738703;KF458486;L26081;NG_011489;NM_006080;XM_005250110;XM_005250111;XM_006715838;XM_006715839 AAA65938;AAC78622;AAI11417;AAP22350;AAS00353;AAS02028;BAF82643;CAD91050;CAI84571;CCF77004;EAL24185;EAW76982;NP_006071;Q14563;XP_005250167;XP_005250168;XP_006715901;XP_006715902 Hs.252451 1331594;1646214;1661472;1691694;1691788;1696590;1713905;1717345;1767645;1786212;1796738;2127765;2129289;2173006;2173654;2184018;7185124 D7S1598;D7S2366;D7S820;G42165;G42251;GDB:1317948;RH119383;RH122163;RH69031;SEMA3A_1309;SEMIII;SHGC-106937;SHGC-33736;SHGC-53494;SHGC-56119;SHGC-82891 COLL1;HH16;Hsema-I;Hsema-III;MGC133243;SEMA1;SEMAD;SEMAIII;SEMAL;SemD;coll-1 OTTHUMP00000161379;OTTHUMP00000208884;collapsin 1;semaphorin D;semaphorin III;semaphorin L;semaphorin-3A;semaphorin-like APPROVED protein-coding HGNC:10723 04908 603961;614897 REVIEWED 737162 SELP selectin P (granule membrane protein 140kDa, antigen CD62) This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008] 1 1 1 q22-q25 142667866 142709161 - 169558087 169599377 - 169588849 169630139 - 1580074;1580075;1599904;1580863;729766;2312304;2312314;2312302;2312303;2312291;2312292;2312307;2312309;2312308;2312294;2312310;6478687;6478695;6219001;6218990;6219003;6219005;6296592;5685677;6480464;6218988;6218993;6218989;6219000;6478679;6218991;6478702;6219007;6478699;6480101;6480105;6480102;6478688;6218986;6219006;6478682;6484113;6907045;7240710;8554872 11597943;12165563;12377736;12929084;17391113;17598012;18026823;18471420;18521901;19061719;19147805;19193626;19228864;19333758;19451746;19832990;19834105;20079717;20122276;20179168;20646456;20690979;20885295;21124648;21146547;21147071;21162967;21412059;21457388;21484243;21526498;21567088;21701413;21885854;21894146;22156911;22340239;22391529 10391209;10499919;10713099;10733515;10950950;11040019;11081633;11237770;11247301;11861803;11885026;11936588;11981814;12036879;12036880;12082590;12200386;12384485;12468916;12477932;12736150;12757775;12783114;12847232;12858167;12860908;12871503;12871600;12888879;12911583;12945872;1375831;1377048;1435334;14557872;14568956;14592723;14615387;14630802;14676308;14680834;14681304;14764537;15026421;15059608;15059609;15080580;15133030;15217824;15221968;15231569;15297306;15297307;15299021;15316595;15351857;15353601;15497463;15543334;15583743;15633604;15705928;15769472;15885758;15916851;15972662;16014051;16100264;16125711;16139336;16184405;16257118;16263699;16332977;16344560;16352650;16390014;16514062;16633357;16636497;16648968;16683915;16764881;16860607;16877367;16928730;16935700;1694218;16973503;16982492;1701178;17027652;1705568;17064811;17074110;17126824;17143564;1717161;17192395;17204688;17275499;17279322;17393020;17420019;17437524;17473568;17488661;17497038;17498578;17509958;17510305;17554801;17597069;17632516;17634906;17698171;17700216;17702963;17706337;17710630;17849054;17890399;17939599;17944986;17945332;17982310;18029348;18034324;18050247;18054198;18080800;18182036;18191640;18217430;18333373;18363812;18363816;18383329;18390200;18449419;18497306;18535285;18539899;18550060;18576930;18580442;18597952;18600034;18606703;18649055;18713749;18818407;18828734;18974840;18974842;19028820;19036374;19047793;19064610;19074885;19082691;19105599;19106004;19131662;19132251;19136145;19138666;19212907;19221099;19240957;19241310;19247692;19262138;19263529;19264679;19280705;19332769;19361981;19395438;19404301;19423540;19452728;19479237;19493436;19525192;19536175;19559392;19578796;19590054;19638712;19656773;19689998;19729601;19812370;19874461;19913121;19913879;19948214;19948975;20010946;20034466;20051472;20056442;20079524;20097880;20153702;20167578;20205626;20227257;20376705;20406964;20431845;20431848;20435690;20438785;20445017;20452482;20485444;20536507;20580062;20586826;20602615;20603037;20628086;20669347;20673868;20723301;20855565;21071696;21085001;21106229;21116278;21143192;21149548;21159528;21170343;21245745;21319374;21385561;21441381;21497813;21507293;21521525;21534853;21544708;21545688;21594636;21618132;21638248;21642543;21658254;21714704;21763287;21803846;21816455;21866298;22010135;22021370;22039451;22053609;22068558;22088599;22100896;22142906;22159147;22192915;22425972;22473907;22593709;22627390;22688557;22703881;22717029;22745009;22836626;22842622;23014585;23018521;23416763;23421771;23442851;23468382;23525448;23593361;23740526;24192766;24244398;24601701;2466574;24684681;2472431;25095634;25108430;7505680;7508745;7680663;7684381;7693674;8467233;8901515;9128259;9129046;9290466;9668170 6403 F6VVT6;P16109;Q5R341;Q5R342;Q5R345;Q5R349;Q6NUL9 ABBA01027950;AF542391;AK312884;AL022146;AMYH02002115;AY367063;BC028067;BC068533;CH471067;DA926598;DA994564;KF455060;L01574;M25322;M60222;M60234;NG_012125;NM_003005;XM_005245435;XM_005245436;XM_005245438;XM_005245439;XM_005245440;Z99572 AAA35910;AAA35911;AAC31762;AAH28067;AAH68533;AAN06828;AAQ67703;BAG35732;EAW90850;EAW90851;EAW90852;EAW90853;EAW90854;NP_002996;P16109;XP_005245492;XP_005245493;XP_005245495;XP_005245496;XP_005245497 Hs.73800 1692232;2160352 AL033775;SHGC-17253 CD62;CD62P;FLJ45155;GMP-140;GMP140;GRMP;LECAM3;PSEL CD62 antigen-like family member P;OTTHUMP00000032609;OTTHUMP00000032610;OTTHUMP00000032615;OTTHUMP00000032616;OTTHUMP00000032620;OTTHUMP00000032631;OTTHUMP00000032632;OTTHUMP00000032633;P-selectin;PADGEM;granule membrane protein 140;granulocyte membrane protein;leukocyte-endothelial cell adhesion molecule 3;platelet activation dependent granule-external membrane protein;platelet alpha-granule membrane protein APPROVED protein-coding ENSG00000174175 HGNC:10721 01433 147050;173610 REVIEWED 1601989 SEMA3G sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G ENCODES a protein that exhibits receptor activity (inferred); INVOLVED IN multicellular organismal development (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid; benzo[a]pyrene 3 3 3 p21.1 52446585 52458288 - 52467268 52479112 - 52433252 52445096 - 6480464 11214971;12477932;14702039;15489334;18781179;18818766;19199708;19913121;20628086;20947821;21926972;22562223;23974872 56920 C9JXB2;H7C5M7;Q9NS98 AB029496;ABBA01024508;AC006208;AK024425;AMYH02006802;BC098104;BC098137;BC099724;CH471055;GN344113;NM_020163;XM_005265327 AAH98104;AAH98137;AAH99724;BAA98132;BAB15715;CAY55992;EAW65225;NP_064548;Q9NS98;XP_005265384 Hs.59729 1693574 SHGC-58480 FLJ00014;MGC119473;sem2 OTTHUMP00000213101;semaphorin sem2;semaphorin-3G protein-coding ENSG00000010319 HGNC:30400 14251 PROVISIONAL 1318327 SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F The semaphorins are a family of proteins that are involved in signaling. All the family members have a secretion signal, a 500-amino acid sema domain, and 16 conserved cysteine residues (Kolodkin et al., 1993 [PubMed 8269517]). Sequence comparisons have grouped the secreted semaphorins into 3 general classes, all of which also have an immunoglobulin domain. The semaphorin III family, consisting of human semaphorin III (SEMA3A; MIM 603961), chicken collapsin, and mouse semaphorins A, D, and E, all have a basic domain at the C terminus. Chicken collapsin contributes to path finding by axons during development by inhibiting extension of growth cones (Luo et al., 1993 [PubMed 8402908]) through an interaction with a collapsin response mediator protein of relative molecular mass 62K (CRMP62) (Goshima et al., 1995 [PubMed 7637782]), a putative homolog of an axonal guidance associated UNC33 gene product (MIM 601168). SEMA3F is a secreted member of the semaphorin III family.[supplied by OMIM, Mar 2008] 3 3 3 p21.3 50165676 50199339 + 50192562 50226508 + 50155411 50189075 + 1580863;6480464;8554872 10095013;10702410;12477932;12659673;12845630;15489334;15520858;15550623;15814794;15862967;15967098;16169070;17308083;17569671;17693432;18476556;18660502;18818766;19177200;19657188;19683737;19790074;19851296;20036365;20124444;20198310;20198315;20388805;21349996;21610314;21963094;22093159;22350413;22431917;23314748;23603393;24079887;7566098;7637782;8269517;8402908;8633026;8649831;8786119;8889548;9331348;9883722 6405 C9IYS6;C9J1V2;C9J4H5;C9JPG5;H7C4A2;Q13275 AA378582;AB209259;ABBA01024553;ABBA01024554;AC000063;AC104450;AMYH02006766;BC042914;CB240860;CH471055;NM_004186;U32171;U32172;U33920;U38276;XM_005265381;XM_005265382;XM_006713289;XM_006713290 AAB06011;AAB06012;AAB18276;AAB46344;AAC50568;AAH42914;BAD92496;EAW65043;EAW65044;EAW65045;EAW65046;NP_004177;Q13275;XP_005265438;XP_005265439;XP_006713352;XP_006713353 Hs.32981 1738903;1793474;1798138;2113278;2113280;2113282;2113284;2113286;2113288;2113290;2113292;2113294;2113296;2113298;2113300;2113302;2113304;2113306;2113308;2113310;2139632;2158836 D3S3178;D3S4505;D3S4506;D3S4507;D3S4508;D3S4509;D3S4511;D3S4512;D3S4513;D3S4514;D3S4515;D3S4516;D3S4517;D3S4518;D3S4519;D3S4520;D3S4521;D3S4522;PMC22669P18;SEMA3F_2436;SGC31666;SHGC-76759 SEMA-IV;SEMA4;sema III/F;sema IV OTTHUMP00000210657;OTTHUMP00000210658;OTTHUMP00000210669;SEMAK;sema domain, immunoglobulin domain (Ig), short basic domain, secreted, 3F;semaphorin III/F;semaphorin IV;semaphorin-3F APPROVED protein-coding ENSG00000001617 HGNC:10728 03079 601124 VALIDATED 1312188 SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] 1 1 1 q22 129192724 129220533 + 156117145 156147542 + 156149944 156177751 + 737633;1580863;6480464;7240710;8554872;8699517 12477932 12374982;12563299;12893810;12906260;12975309;14702039;15489334;16199541;16344560;17318185;18334927;20237496;20301590;20801516;21988832;22491253;22956603;23007237;23360997;7748561 64218 B4DKS5;Q5TCI4;Q5TCI6;Q5TCJ5;Q5TCJ7;Q9H3S1 AA761091;AB029394;ABBA01016669;ABBA01016670;AK022349;AK022416;AK091127;AK290353;AK296693;AK315547;AL135927;AMYH02001964;AMYH02001965;AMYH02001966;AMYH02001967;AY358531;BC020974;BX640891;CH471121;DA409501;DA508826;DC332598;NG_027683;NM_001193300;NM_001193301;NM_001193302;NM_022367 AAH20974;AAQ88895;BAB14018;BAB20087;BAF83042;BAG37925;BAG52288;BAG59287;CAE45942;EAW52992;EAW52993;EAW52994;EAW52995;NP_001180229;NP_001180230;NP_001180231;NP_071762;Q9H3S1 Hs.408846 2133447 A001V24 CORD10;FLJ12287;RP11-54H19.2;RP35;SEMB;sema B OTTHUMP00000015916;OTTHUMP00000015917;OTTHUMP00000015918;OTTHUMP00000016567;OTTHUMP00000016570;SEMAB;sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4A;semaphorin B;semaphorin-4A;semaphorin-B APPROVED protein-coding ENSG00000196189 HGNC:10729 09528 607292;610282;610283 REVIEWED 736831 SELE selectin E The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008] 1 1 1 q22-q25 142801587 142813012 - 169691781 169703220 - 169722640 169734079 - 1580039;1580040;1580041;1580863;1625253;2313599;2313600;2313595;2313597;2313598;2313596;6480464;6484113;6907045;7240710;8554872 11828340;14563588;16061120;16207337;16843446;17578587;18791689;19107136;19107536;19489247 10391210;10419878;10477700;10982036;11097335;11168027;11341749;11359462;11402070;11404363;11466561;11575217;11575218;11602579;11697721;11714857;11764211;11776680;11827962;11847011;11859093;11882337;11882338;11929779;11935152;11936588;11948013;11981814;11983205;12011765;12020443;12027924;12036529;12082590;12082592;12086338;12165498;12172318;12172576;12175121;12186696;12200076;12200386;12388172;12421968;12477932;12499405;12522014;12595908;12626663;12649084;12673844;12698264;12738381;12768436;12788528;12792758;12820726;12871600;12898464;12940514;12960351;1375831;14534081;14557872;14568956;14587643;14592723;14592840;14607629;14691583;14714557;14734737;14763917;14984317;14988223;15009098;15013273;15076187;15076188;15080580;15083893;15086468;15148373;15167972;15179350;15187162;15194470;15254658;15299021;15304054;15308783;15331359;15387376;15488708;15515123;15560890;15584003;15593054;15666579;15735663;15736116;15784173;15833936;15871853;15917220;15979159;16002039;16080806;16269612;16344560;16426244;16433632;16501492;16544732;16554320;16565092;16710414;16722397;16756647;16773720;16820586;16892455;1689848;16908800;16916660;1694218;16963035;16974056;16980970;16982492;1701274;17014013;17020471;1703529;17036337;17057786;17142773;17143564;17167725;17372905;17389327;17392035;17452460;17515951;17563404;17684030;17706337;17706953;17875185;17939599;17954174;17956423;17963163;17991470;17996280;18020971;18029551;18094708;18182036;18191640;18197885;18212564;18217430;18276775;18375392;18401566;18484695;18513389;18580442;18590706;18593916;18597403;18597952;18606703;18611928;18613029;18633131;18649056;18676680;18677293;18692491;18704886;18707907;18710415;18726101;18761727;18794336;18828734;18930765;18973547;18974840;18974842;18991188;19021457;19028820;19056482;19064610;19118161;19131662;19136145;19139603;19170196;19191721;19212205;19225544;19237221;19238444;19240957;19249917;19263529;19361981;19414551;19417018;19420105;19420919;19422386;19423540;19479237;19536175;19538882;19548631;19559392;19564823;19578796;19670701;19692168;19701669;19729601;19729612;19885579;19913121;19942746;19948975;19949084;19996987;20004427;20010946;20044088;20056442;20191078;20193033;20227257;20406964;20416077;20430730;20438785;20445017;20452482;20485444;20495539;20508517;20536507;20580062;20587315;20602615;20603037;20607758;20622166;20628086;20656374;20673868;20680929;20691427;20713000;20796317;20833389;20855565;20937831;20941749;21099224;21138731;21159528;21162967;21286681;21381877;21471547;21486700;21521525;21526496;21544708;21629188;21659524;21756793;21780194;21827804;21881522;22009003;22010135;22021370;22025563;22030423;22068558;22104155;22158116;22159147;22264805;22269951;22271244;22322211;22336504;22366582;22384091;22414298;22497223;22508864;22533155;22589243;22593709;22648254;22718118;22763042;22814396;22815813;22820001;22836626;22922984;22970241;23015400;23041613;23129313;23187956;23190470;23235150;23242661;23353989;23403989;23442851;23457623;23565284;23623010;23855486;23906304;23929007;23988228;24260191;24349153;24418879;24457076;2466335;25002508;7509040;7523444;7533025;7536194;7538217;7541576;7680663;7681016;7693046;7694691;8557254;8609175;8621728;9024699;9128259;9269771;9290466;9312078;9597096;9920928;9933738 6401 P16581;Q5TI72;Q5TI73;Q5TI74;Q5TI75;V9GYI4 ABBA01027947;AF540378;AK314214;AL021940;AMYH02002115;AY367062;BC131551;BC142677;BC142711;CH471067;DB209354;M24736;M30640;M61892;M61893;NG_012124;NM_000450 AAA52375;AAA52376;AAA52377;AAI31552;AAI42678;AAI42712;AAN01237;AAQ67702;BAG36888;EAW90860;NP_000441;P16581 Hs.82848 1731146;1745017;1795080;2112340;2123277;2142130 D1S332;D1S3363;D1S3668;GDB:592877;PMC97258P1;RH17688 CD62E;ELAM;ELAM-1;ELAM1;ESEL;LECAM2 CD62 antigen-like family member E;E-selectin;OTTHUMP00000032745;OTTHUMP00000032746;OTTHUMP00000032747;OTTHUMP00000032748;OTTHUMP00000032749;endothelial adhesion molecule 1;endothelial leukocyte adhesion molecule 1;leukocyte endothelial cell adhesion molecule 2;leukocyte-endothelial cell adhesion molecule 2 APPROVED protein-coding ENSG00000007908 HGNC:10718 00566 131210;145500 REVIEWED 1348225 SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D ENCODES a protein that exhibits receptor activity (inferred); INVOLVED IN cell differentiation (inferred); nervous system development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular region (inferred); membrane (inferred); INTERACTS WITH aflatoxin B1; amiodarone; arsenite(3-) 7 7 7 q21.11 79328907 79455300 - 84624508 84816171 - 84995553 85121931 - 1580863;6480464;8554872 12477932;12690205;12853948;12975309;15329371;15489334;18818766;19054571;20684831;23372769;23685842 223117 C9JYT6;O95025 ABBA01045884;ABBA01045885;ABBA01045886;AC004957;AK309116;AMYH02016194;AY358937;BC029590;BX648652;CH236949;CH471091;NM_152754 AAH29590;AAQ89296;ABM82491;ABM85679;EAL24184;EAW76974;EAW76975;EAW76976;EAW76977;NP_689967;O95025 Hs.201340 1337158;1770626;2133635;2219684;7185279 D7S1932;D7S524;RH48549;SEMA3D_2589 MGC39708;Sema-Z2;coll-2 OTTHUMP00000206138;collapsin 2;semaphorin-3D protein-coding ENSG00000153993 HGNC:10726 15321 609907 VALIDATED 1345838 SEMA4E sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4E 10506 HGNC:10733 1354487 SEMA4C sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C ENCODES a protein that exhibits receptor activity (inferred); INVOLVED IN muscle cell differentiation; positive regulation of stress-activated MAPK cascade; cell migration in hindbrain (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; postsynaptic density (ortholog); synaptic vesicle membrane (ortholog); INTERACTS WITH 1-chloro-2,4-dinitrobenzene; arsenite(3-); diazinon 2 2 2 q11.2 91965635 91975934 - 97525473 97536680 - 96859736 96869998 - 1580863;6480464;8554872 10318831;11134026;11162505;11214970;12477932;12975309;15489334;15978582;17498836;20959347;21139048;21890473;22268729;22944267;7656991;9464278 54910 C9J4M7;C9JV89;Q9C0C4 AB051526;ABBA01036573;ABBA01036574;AC092636;AF258577;AF370374;AK000376;AK075388;AK126512;AMYH02004337;AY358842;BC017476;BC062984;BC109103;BC109104;BI518922;CH471207;NM_017789;XM_006712606 AAG23780;AAH17476;AAH62984;AAI09104;AAI09105;AAQ15210;AAQ89201;AAY14967;BAA91124;BAB21830;BAC11588;BAG54340;EAW71325;EAW71326;EAW71327;NP_060259;Q9C0C4;XP_006712669 Hs.516220 1798140;1848143;5014051;5015619;5017726;5024761;5037552;5109281 D11S3114;D1S1425;D2S2834;D8S2278;D8S2279;RH36905;SEMA4C;SEMA4C_2477 FLJ20369;KIAA1739;MGC126382;MGC126383;SEMACL1 M-SEMA-F;M-Sema F;OTTHUMP00000161095;SEMAF;SEMAI;semaphorin-4C protein-coding ENSG00000168758 HGNC:10731 07257 604462 VALIDATED 7306018 SEMA3B-AS1 SEMA3B antisense RNA 1 (head to head) 3 3 50304073 50304997 - 50266641 50267565 - 101928931 ABBA01024553;AI796562;AMYH02006766;BE501939;NR_110702;U90094;XR_245219;XR_245220;XR_249376;XR_249377;XR_251358;XR_251359 Hs.587216 ncrna HGNC:49096 VALIDATED 1319638 SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C ENCODES a protein that exhibits receptor activity (inferred); semaphorin receptor binding (inferred); INVOLVED IN axon guidance (ortholog); ASSOCIATED WITH Arthritis, Rheumatoid; Osteoarthritis; FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 4-hydroxyphenyl retinamide 7 7 7 q21-q31 75072464 75249324 - 80371854 80551695 - 80742538 80919351 - 1580084;1580085;1580863;6480464 15077297;9168980 12174914;12477932;12690205;12730958;12853948;15146197;15489334;15609325;17390026;19414484;19666519;19915008;22899844;22924992;23666167;7748561;7829101;8889548;9331348;9405678 10512 B4E2I9;F2Z2Y0;F8WEP9;Q99985 AA853650;AB000220;ABBA01058056;ABBA01058057;ABBA01058058;ABBA01058059;ABBA01058060;AC004880;AC073850;AC093683;AF086506;AK299322;AK304294;AK312478;AL135601;AMYH02016145;AMYH02016146;AMYH02016147;AMYH02016148;BC030690;BF983184;BI494187;BM473251;BU740462;CH236949;CH471091;CN334967;CN334969;CS067220;D32000;NM_006379;XM_005250113 AAH30690;AAS00351;AAS07489;ABM81773;ABM84927;BAA32398;BAG35382;BAG61330;BAG65151;CAI84573;EAL24190;EAW76995;NP_006370;Q99985;XP_005250170 Hs.269109 1671876;1676262;1676680;1796740;1853019;2115249;2134632;2145784;2152914;2179875;5023503 D7S1934;D7S783;G31434;RH46160;RH47103;RH48494;RH80742;RH93359;SEMA3C_394;STS-N38844;STS-N63008 SemE;sema E OTTHUMP00000161326;OTTHUMP00000207932;SEMAE;semaphorin E;semaphorin-3C;semaphorin-E protein-coding ENSG00000075223 HGNC:10725 04034 602645 VALIDATED 735857 SEMA4F sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 2 2 2 p13.1 74712502 74740294 + 74881355 74910981 + 74654228 74683854 + 69991;1580863;6480464;8554872 10051670 11076863;11230166;11256614;11483650;11901358;12477932;14702039;15489334;15489336;15815621;16303743;16381901;19047084;19056885;21136834;21625861;21925246;21945643;22685421;9856463 10505 B7Z931;C9JKW7;C9K0A1;F8WCP8;F8WD61;F8WEH3;O95754 AB021292;AB022317;ABBA01075609;ABBA01075610;AC007387;AF053369;AK075384;AK095587;AK291023;AK304358;AK308166;AK312728;AL136552;AMYH02004091;BC018361;BC038411;CH471053;CK905501;CS051179;DC306380;NM_001271661;NM_001271662;NM_004263;NR_073398;NR_073399;XM_006711919 AAF80660;AAH18361;AAH38411;ABM86603;BAA75631;BAC11584;BAF83712;BAH14167;CAB66487;CAI72085;CAL38610;EAW99605;EAW99606;EAW99607;EAW99608;NP_001258590;NP_001258591;NP_004254;O95754;XP_006711982 Hs.25887 1664335;1671538;1793734;1796744;1847189;2148764;2162179;5014051;5015619;5022200;5022651;5037552;5109362 A008R45;Cda10e10;D11S2921;D11S3114;D17S1239;D2S2657;D8S2278;D8S2279;L18426;PMC26812P2;SEMA4F_810;STS-F02243;WI-13990 M-SEMA;PRO2353;S4F;m-Sema-M;sema M;sema W OTTHUMP00000160410;OTTHUMP00000202702;SEMAM;SEMAW;sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4F;semaphorin 4f;semaphorin M;semaphorin-4F;semaphorin-M;semaphorin-W protein-coding ENSG00000135622 HGNC:10734 04748 603706 REVIEWED 1322177 SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] 7 7 7 q21.11 77694433 77979877 - 82993222 83278479 - 83363906 83649163 - 1580095;1580863;6480464;7240710;8554872;8699517 15235037 12477932;12690205;12853948;15386596;15550623;16344560;17318185;18818766;18974298;20029409;20301296;20379614;20664171;20949546;21505259;21555518;21559368;21795701;22247010;23906303;23932461;24139859;24841563;9205841;9515811 9723 C9JVH5;F8WCZ5;O15041 AB002329;ABBA01045907;ABBA01058088;ABBA01058089;ABBA01058090;AC004954;AC006204;AC079799;AC079987;AK297209;AK303925;AMYH02016174;AMYH02016175;AMYH02016176;AMYH02016177;BC140706;BC144338;BC152458;CH236949;CH471091;CS067222;DA722912;DB215551;KF458490;KF458501;NG_021242;NM_001178129;NM_012431;XM_006716187 AAC69513;AAI40707;AAI44339;AAI52459;AAS07487;AAS07488;BAA20789;BAG59693;BAG64853;CAI84574;EAL24186;EAW76983;NP_001171600;NP_036563;O15041;XP_006716250 Hs.528721 1338488;1848595;1916756;2154169;5014051;5015619;5037552;7185346 D11S3114;D7S2540;D8S2278;D8S2279;G09563;GDB:1317544;REN29193 KIAA0331;M-SEMAH;M-SemaK;coll-5 OTTHUMP00000206419;OTTHUMP00000206420;SEMAH;semaphorin-3E APPROVED protein-coding ENSG00000170381 HGNC:10727 11545 214800;608166 REVIEWED 1321523 SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D ENCODES a protein that exhibits receptor activity; receptor binding; semaphorin receptor binding; INVOLVED IN leukocyte aggregation; negative regulation of alkaline phosphatase activity; negative regulation of cell adhesion; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane; extracellular space (ortholog); INTERACTS WITH 17beta-estradiol; 2-methylcholine; amiodarone 9 9 9 q22.2 62560599 62677697 - 91975706 92112906 - 89360791 89497991 - 1580863;6480464;8554872 10520995;11114375;11181995;11254687;11254688;11937491;12406905;12477932;12539042;12730235;12882840;12958590;14702039;14707103;15164053;15218527;1530858;15489334;15613544;15632204;16055703;16188938;16263699;16754882;17081983;17213182;17244710;17520683;17786190;18025083;19322201;19788569;19805522;19957197;20237496;20379614;20877282;21244334;21538148;21812859;21925246;22111667;22189792;22606231;22652457;22863734;23335257;23376478;23564909;23741311;24040126;24098722;24114199;25108441;8876214;8955171;8969198 10507 C9JD54;C9JFP1;C9JYS7;E9PFD9;F5H044;Q92854 AB210030;ABBA01004609;ABBA01015390;AI055975;AJ420442;AK090804;AK091601;AK097056;AK128342;AK293749;AK316107;AL590233;AL929575;AMYH02021186;BC054500;BC137515;BC137518;BX648216;CH471089;DT220478;NM_001142287;NM_006378;U60800;XM_005251654;XM_006716922;XM_006716923;XM_006716924;XM_006716925;XM_006716926;XM_006716927;XM_006716928;XM_006716929;XM_006716930;XM_006716931;XR_242561;XR_242562 AAC50810;AAH54500;AAI37516;AAI37519;BAC04938;BAE06112;BAG57171;BAH14478;EAW62765;EAW62766;EAW62767;EAW62768;EAW62769;EAW62770;EAW62771;EAW62772;NP_001135759;NP_006369;Q92854;XP_005251711;XP_006716985;XP_006716986;XP_006716987;XP_006716988;XP_006716989;XP_006716990;XP_006716991;XP_006716992;XP_006716993;XP_006716994 Hs.494406 1657952;1680765;1683825;1773806;1786962;1796742;2119632;2144454;2163022;2164962;2169868 A004V46;D2S276;D9S1762;D9S2094;HSC09B052;RH12284;RH18172;RH48764;SEMA4D_1690;SHGC-144540;SHGC-24386 A8;BB18;C9orf164;CD100;FLJ33485;FLJ34282;FLJ39737;FLJ46484;GR3;M-sema-G;MGC169138;MGC169141;SEMAJ;coll-4 OTTHUMP00000021622;OTTHUMP00000208931;OTTHUMP00000208950;OTTHUMP00000208951;OTTHUMP00000208952;OTTHUMP00000208957;OTTHUMP00000240168;OTTHUMP00000240188;sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4D;semaphorin-4D protein-coding ENSG00000187764 HGNC:10732 03520 601866 VALIDATED 8695026 SEMA6A-AS1 SEMA6A antisense RNA 1 5 5 q23.1 115783413 115808403 + 116447498 116471673 + 101927233 ABBA01069023;AC010296;AMYH02012012;CD300011;HG498366;HG498367;NR_109879 Hs.732850 CTB-118N6.3 ncrna ENSG00000248445 HGNC:51110 VALIDATED 1313551 SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011] 5 5 5 q23.1 111728814 111860108 - 115779251 115910551 - 116443555 116574855 - 1302316;1580863;6480464;8554872 10993894 10718198;11242070;12421765;12477932;14702039;15561718;16303743;16436660;17671748;18187809;19451621;19578876;20379614;22036096;22184411;23740775;24024966;9204478 57556 B3KU01;D6RAG9;D6RCR0;E9PDV9;H0Y8V9;Q9H2E6 AB037789;ABBA01069023;AC008524;AC010296;AC027304;AF225425;AF279656;AI110626;AK027439;AK027471;AK027501;AK027505;AK027654;AK027867;AK074975;AK096337;AK315143;AL544905;AMYH02012012;BC032619;CH471086;CX164544;KC877077;NM_001300780;NM_020796;XM_005272041;XM_005272042;XM_006714663 AAG09727;AAG29378;AAI56174;AAI72468;BAA92606;BAB55111;BAB55136;BAB55158;BAB55269;BAB55418;BAC11326;BAG37591;BAG53263;EAW48934;EAW48935;EAW48936;EAW48937;EAW48938;NP_001287709;NP_065847;Q9H2E6;XP_005272098;XP_005272099;XP_006714726 Hs.156967 1671118;1673014;1679688;1688528;1772463;1796746;1854558;1854912;2114620;2119792;2127009;2129813;2160177;2163632;2168281;2183561;5022737;5113367 D5S2407;RH18167;RH18405;RH36041;RH48072;RH65776;RH68760;RH91380;RH93004;RH93058;SEMA6A;SEMA6A_812;SGC33248;SHGC-35133;STS-N21368;STS-N27270;STS-W92748;WI-14893 HT018;KIAA1368;SEMA;SEMA6A-1;SEMA6A1;VIA;sema VIa OTTHUMP00000223008;OTTHUMP00000223009;OTTHUMP00000223010;SEMAQ;semaphorin 6A-1;semaphorin VIA;semaphorin-6A;semaphorin-6A-1 APPROVED protein-coding ENSG00000092421 HGNC:10738 06906 605885 VALIDATED 731900 SEMA6B sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 4481386 4497296 - 4542600 4559771 - 4542588 4559759 - 1580863;6480464;8554872 11350127;12477932;12975309;15177567;15340161;16344560;23665584;23781008 10501 Q9H3T3 AB022433;AB209278;ABBA01056060;ABBA01056061;ABBA01056062;AC011498;AF216389;AF293363;AI825930;AK300037;AMYH02035292;AV701490;AY358939;BC142617;CH471139;DA818632;DB257858;FR839673;NM_032108 AAF87661;AAI42618;AAK16831;AAQ89298;BAB20669;BAD92515;BAG61848;CCA61013;EAW69206;EAW69207;EAW69208;EAW69209;EAW69210;NP_115484;Q9H3T3 Hs.465642 SEM-SEMA-Y;SEMA-VIB;SEMAN;semaZ semaphorin VIB;semaphorin Z;semaphorin-6B;semaphorin-6Ba APPROVED protein-coding ENSG00000167680 HGNC:10739 12322 608873 REVIEWED 1318544 SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010] 5 5 5 p15.2 9075672 9586506 - 9035138 9546233 - 9035026 9546121 - 1580101;1580863;6480464;8554872 9464278 12477932;14702039;15218527;15302935;15372022;15489334;16252231;16344560;16481103;17028446;18029348;18519826;18628988;18950607;19329067;19812673;19913121;19957501;20073063;20379614;20628086;20696765;20802022;21706053;21890473;22229870;22782341;22821546;23251661;24722188;8817451;8889548;9049630 9037 D6R9K6;D6RAF4;H0Y9H9;Q13591;X5DR95 ABBA01020588;ABBA01020589;ABBA01020590;ABBA01020591;AC004615;AC021088;AC022446;AC027335;AC027336;AC034214;AC091906;AF009314;AF056434;AK022877;AK293441;AK307587;AMYH02010834;AMYH02010835;AMYH02010836;AMYH02010837;AMYH02010838;AMYH02010839;BC115696;BM669539;CH471102;CX788776;DA336109;KC876926;KC876927;KJ534937;KJ535077;NG_016410;NM_003966;U52840;XM_006714506;XM_006714507;XM_006714508 AAC09473;AAC14668;AAI15697;AHW56577;AHW56716;BAG56944;EAX08078;EAX08079;NP_003957;Q13591;XP_006714569;XP_006714570;XP_006714571 Hs.27621 1334984;1336464;1654481;1654483;1670800;1684230;1718553;1733676;1733680;1733682;1733684;1733688;1765797;1785464;1798142;1852091;1854607;2123866;2137843;2150799;2155196 A005Z39;D5S1512E;D5S1514E;D5S1515E;D5S1516E;D5S1518E;D5S1842;D5S1880;D5S2095;D5S807;G20633;RH122478;RH12734;RH45272;RH46269;RH65788;RH92606;SEMA5A_1487;SHGC-149224;SHGC-149507;STS-U10508 FLJ12815;semF;sema F OTTHUMP00000115584;SEMAF;semaphorin 5A;semaphorin F;semaphorin-5A;semaphorin-F APPROVED protein-coding ENSG00000112902 HGNC:10736 10219 609297 REVIEWED 732717 SEMA6C sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq, May 2010] 1 1 1 q21.2 124219448 124234432 - 151104161 151119146 - 151131685 151146670 - 633916;1580863;6480464;8554872 12110693 11245885;11347906;12477932;12878157;16344560;16710414;19054571;8619474;9110174 10500 Q9H3T2 AB022434;AB058772;ABBA01049378;AF055020;AF339152;AF339153;AF339154;AK302862;AK311613;AL122064;AL592424;AMYH02001873;AU279414;BC114521;BC114623;BE253393;CH471121;DA787858;NG_029237;NM_001178061;NM_001178062;NM_030913;XM_005244833;XM_005244835;XM_005244836;XM_005244837;XM_005244838;XM_006711120;XM_006711121;XM_006711122;XM_006711123;XM_006711124;XM_006711125 AAC09365;AAI14522;AAI14624;AAL72098;AAL72099;AAL72100;BAB20670;BAB47498;BAG64046;CAB59243;EAW53469;EAW53470;EAW53471;EAW53472;NP_001171532;NP_001171533;NP_112175;Q9H3T2;XP_005244890;XP_005244892;XP_005244893;XP_005244894;XP_005244895;XP_006711183;XP_006711184;XP_006711185;XP_006711186;XP_006711187;XP_006711188 Hs.516316 1734402;1769532 D1S1757E;RH47819 SEMAY;m-SemaY;m-SemaY2;sema Y OTTHUMP00000014154;OTTHUMP00000014155;OTTHUMP00000014156;OTTHUMP00000014157;semaphorin 6c;semaphorin-6C;semaphorin-Y APPROVED protein-coding ENSG00000143434 HGNC:10740 10220 609294 REVIEWED 1605040 SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010] 15 15 15 q21.1 24903126 24958881 + 47476403 48066420 + 47184206 47774223 + 6480464;8554872 10819331;11102867;11842242;12110693;12477932;14702039;14977921;16715077;17143962;18029348;19913121;20628086;22911880;23870195 80031 H0YL82;H0YM97;H0YMA6;H0YMP7;H0YMV0;Q8NFY4 AB040912;ABBA01039148;ABBA01039149;ABBA01039150;ABBA01039151;ABBA01039152;ABBA01039153;AC009558;AC012050;AC018900;AC023905;AC044787;AC066615;AC084882;AF389426;AF389427;AF389428;AF389429;AF389430;AK021660;AK022747;AK022831;AK290032;AMYH02030381;AMYH02030382;AMYH02030383;AMYH02030384;AMYH02030385;AMYH02030386;BC004330;BC150253;CH471082;CS000930;GM708668;GM708670;GM708672;GM708674;GM708676;GM708678;KC877554;KF456040;KF456043;NG_029119;NM_001198999;NM_020858;NM_024966;NM_153616;NM_153617;NM_153618;NM_153619;XM_005254685;XM_005254686;XM_005254687;XM_005254688;XM_005254689;XM_005254690 AAI50254;AAM69449;AAM69450;AAM69451;AAM69452;AAM69453;BAA96003;BAB13869;BAB14221;BAB14264;BAF82721;CAI48006;CAT82582;CAT82584;CAT82585;CAT82587;CAT82590;CAT82592;EAW77332;EAW77333;NP_001185928;NP_065909;NP_079242;NP_705869;NP_705870;NP_705871;NP_705872;Q8NFY4;XP_005254742;XP_005254743;XP_005254744;XP_005254745;XP_005254746;XP_005254747 Hs.511265 1337686;1685071;1722055;1796748;1854929;2113852;2140588;2154873;2161056 AB063027;AFM205ye1;D15S1188;D15S1223;D15S123;D15S666;G09531;G59914;SEMA6D_1632 FLJ11598;KIAA1479 semaphorin-6D APPROVED protein-coding ENSG00000137872 HGNC:16770 10221 609295 REVIEWED 1313074 SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) The protein encoded by this gene binds to cell surfaces through a glycosylphosphatidylinositol (GPI) linkage. The encoded glycoprotein is found on activated lymphocytes and erythrocytes. This protein may be involved in immunomodulatory and neuronal processes. Defects in this gene can result in loss of bone mineral density (BMD). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] 15 15 15 q22.3-q23 51648857 51673527 - 74701630 74726299 - 74409289 74433958 - 1580863;6480464;7240710 10201933;10416131;10520995;10885563;12193228;12477932;12879062;14702039;15489334;15907379;16199891;16210410;16344560;16372136;17207242;17377534;17474147;17485510;17671519;18422858;18987670;19318806;20727575;20854351;21524887;22448926;22837378;22845496;22891341;23166499;23850082;24333536;9712866;9721204 8482 F5GYX3;H3BMF9;O75326 ABBA01060488;AC012435;AC090826;AF030697;AF030698;AF069493;AF071542;AK001895;AK293280;AK312257;AM180445;AM180446;AM180447;AM180448;AM180449;AM180450;AM180451;AMYH02030789;AY885237;BC101643;BC101647;BU191525;CH471136;DA136330;DC408557;NG_011733;NM_001146029;NM_001146030;NM_003612;XM_005254721 AAC34261;AAC34741;AAC80456;AAC82642;AAI01644;AAI01648;AAW62253;BAG35189;BAG50988;BAG56808;CAJ55398;CAJ55399;CAJ55400;CAJ55401;CAJ55402;CAJ55403;CAJ55404;EAW99340;NP_001139501;NP_001139502;NP_003603;O75326;XP_005254778 Hs.24640 1796750 SEMA7A_817 CD108;CDw108;H-SEMA-K1;H-Sema-L;JMH;MGC126692;MGC126696;SEMAK1;sema K1;sema L JMH blood group antigen;John Milton Hagen blood group H-Sema K1;OTTHUMP00000176868;SEMAL;john-Milton-Hargen human blood group Ag;sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group);sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, 7A;sema domain, immunoglobulin domain (ig), and gpi membrane anchor, (semaphorin) 7a;semaphorin K1;semaphorin L;semaphorin-7A;semaphorin-K1;semaphorin-L APPROVED protein-coding ENSG00000138623 HGNC:10741 07081 607961;614745 REVIEWED 1321336 SEMA4G sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 10 10 10 q24.31 96470007 96483094 + 102729254 102745373 + 100969497 100985616 + 1580863;6480464;8554872 10997877;12432760;12471249;12477932;12593985;15164054;15489334;15978582;16189514;16385451;19047128;22990118;23275563 57715 E5RFG2;E5RGX4;H0YBN3;Q9NTN9;Q9NWU8 AB046839;ABBA01063212;ABBA01063213;AK000597;AK297431;AL133215;AMYH02023664;AW161452;BC020960;BC051030;BC053507;BC068039;BC110382;BC128579;CH471066;NM_001203244;NM_017893;XM_005270008;XM_005270009;XM_005270010;XR_246101;XR_428710 AAH20960;AAH51030;AAI10383;AAI28580;BAA91278;BAB13445;BAG59859;EAW49801;EAW49802;EAW49803;EAW49804;NP_001190173;NP_060363;Q9NTN9;XP_005270065;XP_005270066;XP_005270067 Hs.591923;Hs.735152 1661698;1740033;2124195;2167592 D10S1629;D10S2273;SHGC-24148;STS-W80406 FLJ20590;KIAA1619;MGC102867 OTTHUMP00000020312;OTTHUMP00000020313;OTTHUMP00000224654;OTTHUMP00000224655;OTTHUMP00000224657;semaphorin-4G APPROVED protein-coding ENSG00000095539 HGNC:10735 10218 REVIEWED 1349692 SEN2 senescence (cellular)-related 2 ASSOCIATED WITH PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (inferred) 7240710 2300822 6409 HGNC:10745 612389 1345967 SEMG2 semenogelin II The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20. [provided by RefSeq, Jul 2008] 20 20 20 q12-q13.1 40558613 40561702 + 43850010 43853099 + 45221369 45224458 + 1580863;6480464;8554872 10411640;11027412;11780052;11784334;12200457;12399526;12477932;14581514;14629036;1517240;15531881;15563730;1584792;17683036;18482984;18714013;19089943;19380743;21557275;22118674;22177559;23077236;23602568;2757795;8654389;8665951;8665956;8833737;9128720;9523691 6407 Q02383;Q6IRW3 ABBA01052657;AK312932;AL049767;AMYH02037148;AY259284;AY259285;AY259286;BC005262;BC056675;BC070306;CH471077;M81651;M81652;NM_003008;Z47556 AAA60313;AAA60562;AAH05262;AAH70306;AAP86625;AAP86626;AAP86627;BAG35775;CAA87637;EAW75870;NP_002999;Q02383 Hs.537218 5126696 STS-M81652 SGII OTTHUMP00000031099;Semenogelin 2;semenogelin-2 APPROVED protein-coding ENSG00000124157 HGNC:10743 01642 182141 REVIEWED 1349203 SEMG1 semenogelin I The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. The prostate-specific antigen (PSA) protease processes this protein into smaller peptides, with each possibly having a separate function. The proteolysis process breaks down the gel matrix and allows the spermatozoa to move more freely. [provided by RefSeq, Jul 2009] 20 20 20 q12-q13.2 40544235 40547011 + 43835605 43838414 + 45206997 45209773 + 1580863;6480464;8554872 10411640;10412373;11027412;11780052;11784334;11870067;12200457;12399526;12477932;12771235;14562960;14581514;14613901;14629036;1517240;15489334;15563730;15590901;15930278;15962837;16344560;16582407;16713569;17624925;17680810;17683036;18314226;18468680;18482984;18714013;19089943;19241194;19380743;19850743;19889947;20378931;21319273;21525168;21557275;22118674;22177559;22617231;22699487;23077236;23085372;23289976;23658844;24312623;24811874;2757795;2912989;3889920;3972122;6422553;6484484;6698208;8444163;8654389;8665951;8833737;9092810;9523691 6406 P04279;Q6Y808 AA687874;ABBA01052657;AL049767;AMYH02037147;AY174423;AY174424;AY174437;AY174446;AY174447;AY174448;AY256465;AY256466;AY256467;AY256468;AY256469;BC005229;BC007096;BC011442;BC055416;BT007177;CH471077;DA874748;J04440;M81650;NM_003007;Z47556 AAA18168;AAB59506;AAH05229;AAH07096;AAH55416;AAO20112;AAO20113;AAO20126;AAO20127;AAO20128;AAO20129;AAP35841;AAP82462;AAP82463;AAP82464;AAP82465;AAP82466;CAA87636;EAW75871;EAW75872;NP_002998;P04279 Hs.1968 2177797 RH71011 CT103;FLJ78262;MGC14719;SEMG;SGI;dJ172H20.2 OTTHUMP00000031098;cancer/testis antigen 103;semen coagulating protein;semenogelin-1 APPROVED protein-coding ENSG00000124233 HGNC:10742 01641 182140 REVIEWED 1345498 SEN3 senescence (cellular)-related 3 1576706 6410 HGNC:10746 1318955 SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 3 3 3 q21.1 121038150 121153367 - 122628040 122747452 - 122909193 123028605 - 1580863;6480464;8554872 10819331;12477932;12975309;14702039;16344560;18976975;19463192;19913121;20379614;20628086;21642993;21900206;8817451 54437 B5ME80;B7Z2B3;C9JKR3;C9JTV9;C9JTX2;F8WAT5;H0Y5U2;Q9P283 AB040878;ABBA01016464;ABBA01016465;ABBA01016466;AC078794;AC083797;AC109130;AK001234;AK091481;AK291407;AK294528;AK295619;AK309834;AK309848;AMYH02007546;AMYH02007547;AMYH02007548;AY358124;BC002776;BC077726;CH471052;DA115188;DA797213;NM_001031702;NM_001256346;NM_001256347;NM_001256348;NR_046079 AAH77726;AAQ88491;BAA91570;BAA95969;BAF84096;BAH11799;BAH12129;EAW79457;EAW79458;NP_001026872;NP_001243275;NP_001243276;NP_001243277;Q9P283 Hs.210870 1710502;1721825;1779370;2132012;2140563;2218804 D3S1760;G59937;SEMA5B_4154;SHGC-153362;SHGC-86272;STS-AA026150 FLJ10372;KIAA1445;SEMAG;SemG OTTHUMP00000179160;OTTHUMP00000179161;OTTHUMP00000215810;semaphorin-5B APPROVED protein-coding ENSG00000082684 HGNC:10737 15322 609298 VALIDATED 1347900 SEN6 senescence (cellular)-related 6 8706800 6411 HGNC:10747 1343700 SEN6A senescence (cellular)-related 6A 8570202 6412 HGNC:10748 1345722 SEN6B senescence (cellular)-related 6B 7520270 6413 HGNC:10749 6770708 SENCR smooth muscle and endothelial cell enriched migration/differentiation-associated long non-coding RNA 11 11 11 125727739 125732082 - 128561567 128565918 - 128691672 128696023 - 24578380 100507392 ABBA01023010;ABBA01023011;AI860159;AMYH02025764;AP001122;BC039676;HG504322;NG_032912;NR_038908 Hs.657715 1699390;2143905 RH103284;STS-R74314 FLI1-AS1;RP11-744N12.2;lncRNA9 APPROVED ncrna ENSG00000254703 HGNC:44177 615815 VALIDATED 1317317 SEMA4B sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B ENCODES a protein that exhibits receptor activity (inferred); INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); nervous system development (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2-methylcholine; calcitriol; cyclosporin A 15 15 15 q25 67132562 67177271 + 90727985 90772897 + 90184753 90229660 + 1580863;6480464 11214970;12123608;12477932;12975309;14702039;15340161;15489334;15978582;16335952;17081983;17213806;19913121;20628086;21139048;21906983;21963094;24474252;7748561 10509 H0YKV7;H0YLN3;H0YM68;H0YMD6;H0YMR1;H0YMZ3;H0YN49;H0YNC4;H0YNM2;J3KNP4;Q9NPR2 AB051532;ABBA01053047;ABBA01053048;ABBA01053049;AC091167;AF258561;AK026108;AK026133;AK027083;AK289991;AL390080;AL390081;AL390082;AMYH02031037;AY358392;AY445887;BC010701;BC017658;BC019013;BC094849;BC110853;BC126438;BC144141;BX537671;CD109794;CH471101;NM_020210;NM_198925;XM_005254830 AAG23764;AAH10701;AAH17658;AAH94849;AAI10854;AAI26439;AAQ88758;AAR15707;ADR83274;BAB15372;BAB21836;BAF82680;CAB98204;CAB98205;CAB98206;CAD97806;EAX02084;EAX02085;EAX02086;NP_064595;NP_945119;Q9NPR2;XP_005254887 Hs.474935 1761925;1847840;2168262 A006E48;SHGC-145859;WI-20237 KIAA1745;MGC131831;SemC SEMAC;sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4B;semaphorin-4B protein-coding ENSG00000185033 HGNC:10730 10217 VALIDATED 1321080 SENP1 SUMO1/sentrin specific peptidase 1 This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 12 12 12 q13.1 47234386 47297145 - 48436681 48500091 - 48042898 48106308 - 1580863;6480464 10652325;1087798;12466471;12477932;14563852;15105549;15199155;15487983;15489334;15546615;15701643;15820677;15917269;15923632;16009940;16253240;16553580;16699503;16712526;16925949;17000875;17099698;17704192;17981124;18029348;18219322;18474224;18616636;19116244;19322201;19622798;20079608;20212317;20337593;20603076;20841360;21106093;21252943;21505236;21669491;21722636;21791615;21832049;21890473;22194619;22370484;22412018;22493095;22688647;22733136;22748127;22797925;22878415;23002208;23089540;23633483;23824909;24048451;24196834;24654937;24691972;25014244;25027693 29843 F8VRZ8;F8W0I8;Q6N001;Q7Z3G1;Q9P0U3 ABBA01031473;ABBA01031474;ABBA01031475;AC004801;AF149770;AK292060;AK312874;AL582855;AMYH02026418;AMYH02026419;BC045639;BI560893;BX537920;BX640784;CH471111;NM_001267594;NM_001267595;NR_051991;NR_051992;XM_006719361;XM_006719362 AAF31171;AAH45639;BAF84749;CAD97903;CAE45874;EAW57971;EAW57972;NP_001254523;NP_001254524;Q9P0U3;XP_006719424;XP_006719425 Hs.371957 1657006;1674816;1677300;1714285;1736316;1851083;2164207;2176542;2217050;2217952 ATP6V1F_3928;D12S1251E;D12S1814;D12S1957;RH119921;RH47543;RH48837;RH66140;RH98806;SENP1_3815 SuPr-2 OTTHUMP00000242414;OTTHUMP00000242415;OTTHUMP00000242416;SUMO1/sentrin specific protease 1;sentrin-specific protease 1;sentrin/SUMO-specific protease SENP1 APPROVED protein-coding ENSG00000079387 HGNC:17927 07153 612157 REVIEWED 7371354 SENP3-EIF4A1 SENP3-EIF4A1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3) and eukaryotic translation initiation factor 4A1 (EIF4A1) genes on chromosome 17. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011] 17 17 p 7465309 7482324 + 7561992 7579006 + 12477932;20967262;23118916 100533955 ABBA01054873;AC016876;AMYH02032908;BC032613;KF495719;NR_037926 Hs.129673 5020647;5020649;5024740;5122515 G66079;G66086;RH11592;RH47184 ncrna HGNC:49182 VALIDATED 1323815 SENP3 SUMO1/sentrin/SMT3 specific peptidase 3 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP3, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009] 17 17 17 p13 7491642 7501608 + 7465309 7475287 + 7561992 7571969 + 1580863;6480464 10806345;11029585;11076863;11230166;11256614;12477932;14702039;15231748;15489334;15489336;15632193;15635413;15743823;15960975;16381901;16565220;16608850;16738315;17081983;17283066;18259216;18639523;18946085;18948745;19015314;19394292;19423540;19454010;19622798;19680224;19773279;19913121;20181954;20337593;20406964;20438785;20442285;20628086;20924358;21139048;21316347;21331046;21415862;21890473;22094256;22190735;22505724;22626734;22684029;22939629;23118916;23467634;23524851;23667531;23867815;24163370;24250222;24457600;24816145;24930734;25027693 26168 J3KNH7;J3KSF5;J3QL36;J3QRE4;Q9H4L4 ABBA01054873;AC016876;AF199459;AK000923;AL050283;AL557688;AL834294;AMYH02032908;AY008763;BC048306;BC080658;BF514106;BQ424754;BQ956948;CH471108;CX165088;KF495719;NM_015670 AAG33252;AAH48306;AAH80658;AAL25652;CAB43384;CAD38967;CAL37577;CAL37586;EAW90170;EAW90171;EAW90172;NP_056485;Q9H4L4 Hs.513926;Hs.733104 1655535;1676458;2129984 RH16009;RH75761;SHGC-56910 DKFZp586K0919;DKFZp762A152;SMT3IP1;SSP3;Ulp1 SUMO-1-specific protease 3;sentrin-specific protease 3;sentrin/SUMO-specific protease 3;sentrin/SUMO-specific protease SENP3 APPROVED protein-coding ENSG00000161956 HGNC:17862 08339 612844 VALIDATED 1351152 SENP2 SUMO1/sentrin/SMT3 specific peptidase 2 SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004] 3 3 3 q27.2 183741683 183786630 + 185300284 185348889 + 185586180 185631101 + 1580863;6480464;6907045;8554872 10718198;11489887;11896061;11997515;12168954;12192048;12419228;12477932;14673145;14702039;15296745;15489334;15896780;15958389;16169070;16738331;17081986;17099700;18029348;19322201;19394292;19953087;20098747;20337593;21183956;21777808;21832049;21988832;22028379;22031293;22155005;22626734;22688647;23092970;23098437;23224591;23691130;24008762;24048451;24196834;24250222 59343 C9IYB7;F8WCX8;F8WED6;F8WED7;F8WET6;H7C1A0;Q9HC62 ABBA01058411;ABBA01058412;ABBA01058413;ABBA01058414;ABBA01058415;ABBA01058416;ABBA01058417;AC016961;AC133473;AF151697;AK027599;AK074357;AK296744;AK296772;AK298628;AK304402;AL834380;AMYH02008329;AMYH02008330;AMYH02008331;AMYH02008332;BC018020;BC040609;CH471052;NM_021627;XM_005247690;XM_005247691 AAG15309;AAH40609;BAB55222;BAG59328;BAG59351;BAG60804;BAG65236;CAD39043;EAW78214;EAW78215;EAW78216;EAW78217;NP_067640;Q9HC62;XP_005247747;XP_005247748 Hs.401388 1656965;1684040;2137038;2168851 Cda0da04;D3S3113;RH92734;SHGC-24167 AXAM2;DKFZp762A2316;KIAA1331;SMT3IP2 OTTHUMP00000210348;SMT3-specific isopeptidase 2;SUMO1/sentrin/SMT3 specific protease 2;sentrin-specific protease 2;sentrin/SUMO-specific protease SENP2 APPROVED protein-coding HGNC:23116 07002 608261 VALIDATED 1313579 SENP7 SUMO1/sentrin specific peptidase 7 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009] 3 3 3 q12 99434719 99624210 - 101043049 101232085 - 101324189 101513241 - 1580863;6480464 10652325;11076863;11214970;11230166;11256614;12477932;15489336;16147992;16381901;17081983;18799455;20562864;21878624;23045645;24018422 57337 H7C1X8;J3QT09;Q9BQF6 AA651903;AB051494;ABBA01061775;ABBA01061776;ABBA01061777;ABBA01061778;ABBA01061779;AC068764;AC073861;AC110994;AF199458;AF217504;AI858732;AK297356;AL136599;AL833577;AMYH02007313;AMYH02007314;AMYH02007315;BC039900;BC062674;BC129988;BU619557;BX537943;CH471052;HH768344;NM_001077203;NM_001282801;NM_001282802;NM_001282803;NM_001282804;NM_020654;XM_005247662;XM_006713713 AAG09703;AAI29989;AAL25651;BAB21798;BAG59804;CAB66534;CAD97911;CAL37498;CAL37839;CAL37848;CAL38318;CBX84919;EAW79796;EAW79797;EAW79798;EAW79799;EAW79800;EAW79801;EAW79802;NP_001070671;NP_001269730;NP_001269731;NP_001269732;NP_001269733;NP_065705;Q9BQF6;XP_005247719;XP_006713776 Hs.529551 1706398;1710994;2128568;2133965;2184426;5093506 A009P48;D3S3056;G32758;SHGC-77165;SHGC-80773;SHGC-84875 KIAA1707;MGC157730 OTTHUMP00000195146;OTTHUMP00000195147;OTTHUMP00000195148;OTTHUMP00000195149;OTTHUMP00000195150;SUMO-1-specific protease 2;SUMO1/sentrin specific protease 7;sentrin-specific protease 7;sentrin/SUMO-specific protease SENP7 APPROVED protein-coding ENSG00000138468 HGNC:30402 07154 612846 VALIDATED 1312076 SENP6 SUMO1/sentrin specific peptidase 6 Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009] 6 6 6 q13-q14.3 76704946 76821304 + 76311596 76427997 + 75601880 75718281 + 1580863;6480464 10799485;10806345;11278381;12354770;12477932;14563852;14574404;14702039;15302935;15489334;16699503;16912044;17000875;17081983;17704809;18029348;18799455;20195357;20212317;20603076;20881960;21145461;21148299;21693764;21878624;22118674;22412018;24816145;9872452 26054 B3KMM0;D6RG09;D6RJH1;F8W6D9;H0Y4F4;H0Y8Y8;Q9GZR1 AA768785;AB018340;ABBA01040358;ABBA01040359;ABBA01040360;AF196304;AF306508;AF307849;AI732829;AJ710192;AK001406;AK021417;AK021949;AK096455;AK126921;AL109897;AL355797;AL356057;AL589656;AMYH02013934;BC028583;CH471051;CR990444;NM_001100409;NM_015571;XM_006715457;XR_241847 AAF04852;AAG29831;AAG30253;AAH28583;BAA34517;BAC04794;BAG50906;BAG51032;BAG51063;BAG54398;EAW48733;EAW48734;EAW48735;EAW48736;NP_001093879;NP_056386;Q9GZR1;XP_006715520 Hs.485784 1666525;1673977;1728325;1770297;1851905;1852081;2132805;2149665;2162017;2218600 D6S1226E;D6S1339;G63444;RH46771;RH69973;SENP6__3808;SHGC-33979;SHGC-34466;STS-R89090;WI-11925 FLJ11355;FLJ11887;KIAA0389;KIAA0797;SSP1;SUSP1 2810017C20Rik;OTTHUMP00000016757;OTTHUMP00000220703;OTTHUMP00000220706;SUMO-1-specific protease 1;SUMO1/sentrin specific protease 6;sentrin-specific protease 6;sentrin/SUMO-specific protease SENP6 APPROVED protein-coding ENSG00000112701 HGNC:20944 05417 605003 VALIDATED 5490855 SEPHS1P1 selenophosphate synthetase 1 pseudogene 1 7 7 7 q11.21 58031370 58043893 - 64311698 64313827 - 64851320 64853449 - 12477932 168474 ABBA01027986;AC073349;AMYH02015858;NG_029998 SEPHS1P pseudo HGNC:42161 INFERRED 5133403 SEPHS1P2 selenophosphate synthetase 1 pseudogene 2 15 15 15 70385468 70386028 - 93973886 93974446 - 93430657 93431217 - 24322204 100420292 ABBA01053109;AC091078;AMYH02031088;NG_025354 pseudo HGNC:42162 INFERRED 5133405 SEPHS1P3 selenophosphate synthetase 1 pseudogene 3 5 5 175556716 175557297 - 176129713 176130294 - 100420189 ABBA01000568;AC139491;AMYH02012811;NG_024643 pseudo HGNC:42163 INFERRED 1320576 SENP8 SUMO/sentrin specific peptidase family member 8 This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 15 15 15 q23 49292931 49319646 + 72406599 72433311 + 72114258 72140970 + 1580863;6480464;8554872 12477932;12730221;12759362;12759363;14702039;15146197;15242646;15342556;15489334;15567417;15775960;16344560;16998474;17440617;17591783;18666185;19328766;19784069;20190741;22110750;22118674;22388932;22626734;23001041;23209320;23246961;23319000;23408908;24250222;24821572 123228 A8K8D3;H3BS71;H3BTJ8;H3BTK5;Q96LD8 ABBA01038736;ABBA01038737;AC020779;AF308450;AK097557;AK292298;AMYH02030750;AY008293;BC031411;BP370384;CH471082;CN367895;CS300645;DB033241;DB048641;NM_001166340;NM_001172109;NM_001172110;NM_001172111;NM_145204;XM_005254157 AAG21828;AAH31411;AAL06294;ABM81728;ABM84883;BAF84987;CAK32309;EAW77881;NP_001159812;NP_001165580;NP_001165581;NP_001165582;NP_660205;Q96LD8;XP_005254214 Hs.513002 1852229;2108455;2121197;2186525 D15S1331;SENP8_8135;SGC33966;STS-R02756 DEN1;HsT17512;NEDP1;PRSC2 NEDD8 specific-protease cysteine 2;NEDD8-specific protease 1;OTTHUMP00000164640;SUMO sentrin specific protease family member 8;deneddylase 1;deneddylase-1;protease, cysteine 2;sentrin-specific protease 8 APPROVED protein-coding ENSG00000166192 HGNC:22992 09784 608659 REVIEWED 5133407 SEPHS1P6 selenophosphate synthetase 1 pseudogene 6 2 2 2 q33.1 194279540 194280710 + 200524274 200525444 + 199659551 199660721 + 729399 ABBA01062507;AC017096;AC079609;AC093590;AMYH02005532;NG_021597 1674741;1680264;1703788;1706770;1724137;2108457 RH11181;RH121203;SEPHS1_9288;SHGC-53751;SHGC-79111;SHGC-80853 pseudo HGNC:42168 INFERRED 1312139 SENP5 SUMO1/sentrin specific peptidase 5 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009] 3 3 3 q29 195180606 195248200 + 196594727 196661585 + 196867856 196934714 + 737633;1580863;6480464 12477932 10806345;15489334;16608850;16738315;18949399;18976975;19015314;24778252 205564 C9JHT8;H7C2F8;H7C424;Q96HI0 ABBA01033759;ABBA01033760;ABBA01033761;AC011322;AC016949;AC127904;AF335474;AK124389;AK302305;AK313764;AL049229;AMYH02008500;AMYH02008501;AMYH02008502;AMYH02008503;AMYH02008504;AMYH02008505;BC000958;BC008589;BC013799;BC030705;BC036626;CH471191;DC399261;NM_152699;XM_005269310;XM_005269311;XM_005269312 AAH08589;AAH30705;AAK69630;ABM81775;ABM84929;BAG36502;BAG63644;EAW53625;EAW53626;EAW53627;EAW53628;EAW53629;NP_689912;Q96HI0;XP_005269367;XP_005269368;XP_005269369 Hs.240770 1769497;1777886;1854451;2108453;2116805;2117359;2137870;2176893;5015961;5016478;5017266;5020948;5022578;5037552;5108927 D15S1477;D17S1140;D1S1423;D3S4241;D8S2279;G16548;G35510;GDB:434012;L18506;RH78367;SENP5_8156;SGC33427;SHGC-77697;SHGC-77715;STS-AA007591 DKFZp564O1016;FLJ42398;MGC27076 OTTHUMP00000208184;OTTHUMP00000208185;OTTHUMP00000208186;SUMO1/sentrin specific protease 5;sentrin-specific protease 5;sentrin/SUMO-specific protease SENP5 APPROVED protein-coding ENSG00000119231 HGNC:28407 10222 612845 VALIDATED 1318823 SEPHS2 selenophosphate synthetase 2 This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. Genes encoding selenocysteine contain a stem-loop secondary structure in their 3' UTR called a selenocysteine insertion sequence (SECIS) element. The protein encoded by this gene contains a selenocysteine residue in its predicted active site. There is a pseudogene for this gene on chromosome 5. [provided by RefSeq, Aug 2013] 16 16 16 p11.2 29841772 29844044 + 30454952 30457224 - 30443625 30445975 - 1580863;6480464;6907045;8554872 10608886;12477932;14702039;15489334;15534230;15791204;16344560;17916946;21139048;21988832;22939629;23934683;24816145;7588067;8986768 22928 J3KR58;Q8N9T3;Q99611 ABBA01042026;AC116348;AC243825;AK092003;AK093889;AK303275;BC002381;BC016643;BG565156;CH471192;DA550938;NM_012248;U43286 AAC50958;AAH02381;AAH16643;BAC03787;BAC04245;BAG64355;EAW52246;NP_036380;Q99611 Hs.118725 1797186 SPS2 SPS2;SPS2b OTTHUMP00000045871;selenide, water dikinase 2;selenide,water dikinase 2;selenium donor protein 2;selenophosphate synthase 2 APPROVED protein-coding ENSG00000179918 HGNC:19686 12096 606218 REVIEWED 5133390 SEPHS2P1 selenophosphate synthetase 2 pseudogene 1 5 5 5 p15.2 14984189 14985317 + 14960376 14961504 + 14960030 14962182 + 20379614 100420190 ABBA01020645;AC016575;AMYH02010903;NG_024654 1724337 RH119091 SEPHS1P5 APPROVED pseudo HGNC:42165 INFERRED 1603617 SEPN1 selenoprotein N, 1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.13 24522754 24540804 + 26126667 26144713 + 25800176 25818222 + 6480464;7240710;8554872;8699517 10608886;11528383;12192640;12477932;12700173;15122708;15489334;15668457;15792869;15961312;16365872;16498447;16710414;16779558;17474147;18713863;18841251;19067361;19322201;19557870;20301436;20301467;20301468;20937510;21048031;21241449;21670436;21906983;22527882;8833144;9585610 57190 H9KV50;Q9NZV5 AA613025;ABBA01034886;ABBA01034887;AF166125;AJ306398;AJ306399;AK172860;AK308457;AL020996;AL110205;AMYH02000547;BC005881;BC015638;BC021028;BC033244;BC042154;BC107036;BQ217758;NG_009930;NM_020451;NM_206926 AAF21430;AAH15638;AAH42154;AAI56072;CAC83790;CAC83791;NP_065184;NP_996809;Q9NZV5 Hs.323396 1336312;2114612;2149578;5022200;5022588;5037552;5094024 A010A48;D1S2885;D5S1597E;D8S2279;G33062;L18426;SHGC-74434 CFTD;FLJ24021;MDRS1;RSMD1;RSS;SELN OTTHUMP00000008506;OTTHUMP00000008507;selenoprotein N APPROVED protein-coding ENSG00000162430 HGNC:15999 05867 255310;602771;606210 REVIEWED 5133409 SEPHS1P7 selenophosphate synthetase 1 pseudogene 7 2 2 2 q14.1 108338913 108339704 - 115017626 115018417 - 114260049 114260840 - 391428 ABBA01045976;AC105050;AMYH02004604;NG_021519 pseudo HGNC:42167 INFERRED 5133410 SEPHS1P4 selenophosphate synthetase 1 pseudogene 4 X X X q13.2 73272560 73273732 + 72989083 72990255 + 73769248 73770420 + 389873 ABBA01059646;ABBA01059647;AL356513;AMYH02039772;NG_022673 pseudo HGNC:42169 INFERRED 7382733 SEPSECS-AS1 SEPSECS antisense RNA 1 (head to head) 4 4 4 p15.31 25611093 25648834 + 25162294 25200128 + 25160672 25198506 + 14702039 285540 ABBA01032691;ABBA01032692;AC104662;AK095450;AMYH02008910;BX106520;BX646650;NR_037934 Hs.732278 ncrna HGNC:27737 VALIDATED 1316277 SEPT1 septin 1 This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012] 16 16 16 p11.1 29904429 29909188 + 30389454 30394171 - 30378133 30382850 - 1580863;6480464 12475938;12477932;12747765;15489334;15915442;16179162;16189514;17912427;17967425;19799413;19850743;20136629;20236126;21082023;2174398;21809895;21832049;21988832;22145905;22505724;23087102;23314748;24722188;24816145;8590280;8889548;9811347 1731 H3BS52;I3L2M1;J3KNL2;Q8WYJ6 ABBA01042021;AC116348;AC127457;AC243825;AF085235;AF308288;AK301045;AK303390;AL833004;AY034176;BC012161;BM663465;BQ072902;CH471192;NM_052838 AAG48256;AAH12161;AAK61491;AAL40393;BAG62658;BAG64446;CAH56484;EAW52252;EAW52253;NP_443070;Q8WYJ6 Hs.632176 1663773;1683868 G30670;RH66827 DIFF6;LARP;MGC20394;PNUTL3;SEP1 OTTHUMP00000045869;differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase);peanut-like protein 3;septin-1;serologically defined breast cancer antigen NY-BR-24 APPROVED protein-coding ENSG00000180096 HGNC:2879 15324 612897 REVIEWED 1606447 SEPT10 septin 10 This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseudogene for this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] 2 2 2 q13 104469162 104540564 - 110300372 110371783 - 109542797 109614206 - 6480464 12477932;12711328;14702039;15489334;15815621;17207965;17657217;19531213;21139048;21145461;21906983;21963094;21988832;22320903;22863883;22939629 151011 B5ME97;B7Z277;B7Z371;C9JEQ7;C9JEW2;C9JNR7;E7EW69;E7EX04;F5GYV2;F5H1F2;F5H1W3;F8WC85;Q9P0V9 AB208875;ABBA01008999;ABBA01009000;ABBA01009001;AC011753;AC140485;AF146760;AF316880;AK021681;AK022682;AK092033;AK125706;AK292038;AK294427;AK295560;AL049934;AL353938;AMYH02004520;BC020502;BC050345;CH471182;NM_144710;NM_178584;NR_047585;XM_006712317;XM_006712318 AAF67469;AAH20502;AAH50345;AAY24142;ADQ32727;BAB13873;BAB14176;BAD92112;BAF84727;BAG52471;BAH11763;BAH12107;CAB43213;CAB89249;EAW53858;EAW53859;EAW53860;EAW53861;EAW53862;EAW53863;EAW53864;NP_653311;NP_848699;Q9P0V9;XP_006712380;XP_006712381 Hs.469615 1709380 SHGC-81707 FLJ11619 OTTHUMP00000207015;OTTHUMP00000207016;OTTHUMP00000207017;OTTHUMP00000207018;OTTHUMP00000207019;sept1-like;septin-10 APPROVED protein-coding ENSG00000186522 HGNC:14349 15325 611737 REVIEWED 1322506 SEPHS1 selenophosphate synthetase 1 This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010] 10 10 10 p14 13287201 13317394 - 13359428 13390298 - 13317428 13348298 - 1580863;6480464;6907045;8554872 12477932;15489334;15534230;16169070;16189514;16262699;16385451;16786570;19322201;20471958;21139048;21145461;21890473;22939629;23000965;23112913;23382691;7665581 22929 P49903;Q5T5U6;Q5T5U7 ABBA01034627;ABBA01034628;ABBA01034629;AK125066;AK297129;AK301568;AK309829;AL138764;AL355870;AL557595;AL579174;AMYH02022174;AMYH02022175;BC000941;BC063816;BC064610;CH471072;CT000832;GU954545;GU954546;GU954547;GU954548;GU954549;HH961864;NM_001195602;NM_001195604;NM_012247;U34044;XM_006717433 AAA87567;AAH00941;AAH63816;ABM85063;ADF78120;ADF78121;ADF78122;ADF78123;ADF78124;BAG59633;BAG63062;CBX51405;EAW86289;EAW86290;EAW86291;EAW86292;EAW86293;NP_001182531;NP_001182533;NP_036379;P49903;XP_006717496 Hs.124027 1680264;1694446;1767321;2108457;2140763;5016670;5124576 G42936;RH11181;RH27227;RH36724;RH48902;SEPHS1_9288;WI-22046 MGC4980;SELD;SPS;SPS1 OTTHUMP00000019139;OTTHUMP00000019140;selenide, water dikinase 1;selenium donor protein 1;selenophosphate synthase 1;selenophosphate synthetase 1 +E9;selenophosphate synthetase 1 +E9a;selenophosphate synthetase 1 delta E2;selenophosphate synthetase 1 delta E8;selenophosphate synthetase 1 major APPROVED protein-coding ENSG00000086475 HGNC:19685 02944 600902 REVIEWED 736154 SEP15 15 kDa selenoprotein This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Studies in mouse suggest that this selenoprotein may have redox function and may be involved in the quality control of protein folding. This gene is localized on chromosome 1p31, a genetic locus commonly mutated or deleted in human cancers. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p31 85571522 85623478 - 87328128 87380107 - 86862445 86914424 - 6480464;8554872 10945981;11230166;11278576;11898406;12477932;12600282;12665801;15107826;15198809;15489334;16710414;18239845;18676680;19170196;19625176;19692168;20378690;20424130;20852007;21048031;21052528;21139048;21145461;21900206;21963094;23349634;8125298;9535873 9403 O60613 ABBA01045610;AF051894;AF267982;AF288991;AF288992;AK225252;AK225640;AL121989;AL833575;AMYH02001415;BC005294;BC016359;BC021697;BQ429619;BU941543;CB066894;CH471097;NM_004261;NM_203341 AAC15478;AAF78966;AAG31556;AAG31557;AAH05294;AAH16359;AAH21697;CAJ18323;EAW73176;EAW73177;EAW73178;EAW73179;EAW73180;NP_004252;NP_976086;O60613 Hs.362728 1698704;1712084;1712240;2165655;2169996;2181362 AL009717;D1S3349;G54028;G54091;RH102912;SHGC-75087 OTTHUMP00000010189;OTTHUMP00000010190;OTTHUMP00000010191;selenoprotein APPROVED protein-coding ENSG00000183291 09376 606254 REVIEWED 1349067 SEPT11 septin 11 SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009] 4 4 4 q21.1 75172269 75261155 + 77870895 77961307 + 76949742 77040154 + 1580863;6480464 11790298;12107410;12477932;12665801;14702039;14999297;15140406;15196925;15485874;15489334;15635413;16767699;17110338;17353931;17546647;17625225;18029348;18330356;18443421;19234302;19322201;19531213;19738201;20379614;20419844;20736409;20978712;21139048;21504731;21890473;21906983;21963094;22126117;22505724;22863883;22939629;23000965;23192594;24816145 55752 D6R9Y6;D6RDP1;D6RDU5;D6RER5;D6RGI3;H0Y961;H0Y9G8;Q9NVA2 ABBA01063370;AC104687;AC111196;AI580485;AI741944;AK001711;AK027279;AK027633;AK124592;AK302700;AL110300;AMYH02009522;BC008083;BC063615;BC064934;BQ021538;BQ221260;CA394082;CH471057;GU727629;KF457775;NM_018243;XM_005263120;XM_005263121;XM_005263122;XM_006714259 AAH08083;AAH63615;AAY40922;ADU87631;BAA91853;BAB55014;BAB55250;BAH13782;CAB53741;EAX05803;EAX05804;EAX05805;NP_060713;Q9NVA2;XP_005263177;XP_005263178;XP_005263179;XP_006714322 Hs.128199 1656875;1662916;1664483;1673050;1689803;1690700;1703196;1707378;1735362;1745043;1762683;1764347;1765319;1778076;1852438;1856068;2122309;2130532;2131001;2142051;2142053;2144178;2149594;2151140;2154931;2164497;5024478 D4S1491E;D4S2489E;D4S2515E;D4S3151;D4S988;G33442;G34076;GDB:593240;RH11977;RH36409;RH70008;SGC32423;SHGC-146478;SHGC-147949;SHGC-148811;SHGC-24762;SHGC-24788;SHGC-50163;SHGC-50537;SHGC-50546;SHGC-59798;SHGC-59857;SHGC-67666;SHGC-67808;SHGC-84472;SHGC-8614;WI-20168 OTTHUMP00000219160;OTTHUMP00000219161;OTTHUMP00000219162;OTTHUMP00000219163;OTTHUMP00000219164;septin-11 APPROVED protein-coding ENSG00000138758 HGNC:25589 08555 612887 VALIDATED 1604543 SEPT12 septin 12 This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 16 16 16 p13.3 5036441 5047169 - 4827615 4838522 - 4777614 4788521 - 6480464;8699517;8554872;7240710 12477932;14611653;15915442;17207965;18029348;18047794;18443421;19359518;21636737;21832049;22116646;22275165;22479503;24213608 124404 K7EIJ5;K7EP57;K7EP92;K7ES86;Q8IYM1 ABBA01026786;AC020663;AI554914;AK058139;AK098718;AMYH02031328;BC024017;BC035619;CH471112;DQ456996;DQ517531;EF620906;NG_030315;NM_001154458;NM_144605;XM_006720846;XM_006720847 AAH24017;AAH35619;ABE68946;ABF61438;ABR10901;ADQ32285;BAB71681;EAW85264;EAW85265;NP_001147930;NP_653206;Q8IYM1;XP_006720909;XP_006720910 Hs.126780 FLJ25410;SPGF10 OTTHUMP00000159856;septin-12 APPROVED protein-coding ENSG00000140623 HGNC:26348 08061 611562;614822 REVIEWED 737591 SEPP1 selenoprotein P, plasma, 1 This gene encodes a selenoprotein containing multiple selenocysteine (Sec) residues, which are encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This selenoprotein is an extracellular glycoprotein, and is unusual in that it contains 10 Sec residues per polypeptide. It is a heparin-binding protein that appears to be associated with endothelial cells, and has been implicated to function as an antioxidant in the extracellular space. Several transcript variants, encoding either the same or different isoform, have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q31 42689516 42701558 - 42799982 42812024 - 42799880 42811922 - 1580863;6480464;8554872 10775431;10782998;11278668;11280803;11442337;12173025;12423375;12477932;14702039;14718574;15489334;15604093;16335786;16335952;16344560;17245539;17511039;17536041;17601350;17937618;17961124;17986007;18483336;18676680;18977241;19074884;19170196;19199708;19215687;19453253;19513589;19625176;19692168;19747622;19779296;20029029;20178852;20237496;20360971;2037562;20378690;20521393;20542496;20565998;20800603;20852007;20875901;21035759;21052528;21456065;21677040;21988832;22496878;22932905;23056383;23129481;23268326;23383108;23760059;24039907;24055274;24157689;24161883;24257750;24278290;24361887;24437729;24563517;24708917;7931697;8125298;8142465;8421687;8884283;9735174;9915822;9918658 6414 D6REX5;D6RIS9;P49908;R4GMT5 ABBA01024242;AC008945;AK094640;AK096125;AK225801;AK311392;AL833145;AMYH02011229;AU136519;BC005244;BC015875;BC030009;BC040075;BC046152;BC058919;BI463468;CH471119;DQ022288;NM_001085486;NM_001093726;NM_005410;Z11793 AAH15875;AAH40075;AAH46152;AAH58919;AAY26400;CAA77836;EAW56026;EAW56027;EAW56028;EAW56029;EAW56030;EAW56031;EAW56032;NP_001078955;NP_001087195;NP_005401;P49908 Hs.275775;Hs.745017 1682870;1768235;1856704;2134582;2134584;2139739;2152600;5092784 A006E08;D5S2379;G32328;HUM000AA35;HUM00D2F10;RH78323;STS-Z11793;WI-11922 SELP;SeP OTTHUMP00000221366;OTTHUMP00000221367;OTTHUMP00000221368;OTTHUMP00000221369;OTTHUMP00000221370;selenoprotein P APPROVED protein-coding ENSG00000250722 HGNC:10751 03286 601484 REVIEWED 1602813 SEPT14 septin 14 SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008] 7 7 7 p11.2 66914266 66984265 - 55861237 55930482 - 55793544 55862789 - 6480464;8554872 16344560;17922164 346288 Q6ZU15 ABBA01061827;ABBA01061828;ABBA01061829;ABBA01061830;ABBA01061831;ABBA01061832;AC092647;AI337138;AK126048;AK301928;AL041480;AMYH02015740;AMYH02015741;AMYH02015742;CH471140;DB087561;DB341209;DC400351;NM_207366 AAI46358;AAI53167;BAC86412;BAG63348;EAX07958;EAX07959;NP_997249;Q6ZU15 Hs.453629 5016478 GDB:434012 FLJ44060 OTTHUMP00000159695;septin-14 APPROVED protein-coding ENSG00000154997 HGNC:33280 16972 612140 VALIDATED 6482018 SEPT2P1 septin 2 pseudogene 1 1 1 106240652 106240849 + 105698030 105698227 + 100873333 ABBA01028440;AL589665;AMYH02001638;NG_032370 pseudo HGNC:40017 INFERRED 1606287 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011] 4 4 4 p15.2 25570424 25611003 - 25121627 25162204 - 25120005 25160582 - 6480464;6907045;8699517;7240710;8554872 10801173;10931155;11230739;11826415;12477932;15146197;16230358;16344560;17142313;17194211;19608919;19683415;20471133;20623998;20920667;22190034;23112913;23667531;23966103;24250222 51091 A1A4F3;D6R969;H0Y9D2;J3KP25;Q9HD40 ABBA01032690;ABBA01032691;AC007073;AC104662;AF146396;AF282065;AJ238617;AJ277541;AK292476;AL133065;AMYH02008909;AMYH02008910;AW515989;BC012188;BC023539;BC117202;BC126213;BX648976;CH471069;CN429794;DA155173;NG_028222;NM_016955;XM_005248168;XM_006713965 AAD33963;AAG00491;AAH23539;AAI17203;AAI26214;ACE86809;ACE87496;BAF85165;CAB62209;CAB89517;EAW92831;EAW92832;EAW92833;EAW92834;EAW92835;NP_058651;Q9HD40;XP_005248225;XP_006714028 Hs.253305 1696158;1751453;2116128;2121910 RH46210;SHGC-105226;SHGC-64855;SHGC-79143 DKFZp434B1417;LP;MGC161491;PCH2D;SLA;SLA/LP O-phosphoseryl-tRNA(Sec) selenium transferase;OTTHUMP00000158713;OTTHUMP00000218475;SLA-p35;SLA/LP autoantigen;UGA suppressor tRNA-associated protein;liver-pancreas antigen;sec synthase;selenocysteine synthase;selenocysteinyl-tRNA(Sec) synthase;sep-tRNA:Sec-tRNA synthase;soluble liver antigen;soluble liver antigen/liver pancreas antigen;tRNA(Ser/Sec)-associated antigenic protein APPROVED protein-coding ENSG00000109618 HGNC:30605 11561 613009;613811 REVIEWED 5131838 SEPT10P1 septin 10 pseudogene 1 8 8 8 q12.1 53380185 53381445 - 57389389 57390649 - 56476830 56478090 - 389662 ABBA01041771;AC012349;AC013644;AMYH02018020;NG_022390 1335996;1340576;1644747;1676526;1704976;1714571;1731989;1772373 D8S1102;D8S166;D8S444;D8S583;RH119799;RH12491;RH92188;SHGC-77990 DKFZP564M1416 pseudo HGNC:40018 INFERRED 736597 SEPT3 septin 3 This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 26179152 26200449 + 42372855 42394225 + 41976927 41998221 + 1580863;6480464 10591208;11076863;11230166;11322766;12477932;15107017;15200238;15461802;15485489;15489336;16169070;16381901;18029348;21082023;21139048;21890473;21900206;23000965;23163726;8889548 55964 B1AHR1;B1AHR2;B7Z686;Q9UH03 AB209152;ABBA01055658;ABBA01055659;ABBA01055660;AF285107;AF285108;AF285109;AI341333;AK290037;AK299919;AL833942;AMYH02038450;AMYH02038451;BC111779;BM666855;BX465056;CH471095;CR456572;NM_019106;NM_145733;Z99716 AAG00517;AAG00518;AAG00519;AAI11780;BAD92389;BAF82726;BAH13172;CAD38797;CAG30458;CAK54602;CAK54901;CAL37625;EAW60478;EAW60479;EAW60480;EAW60481;EAW60482;NP_061979;NP_663786;Q9UH03 Hs.120483 1342147;1662902;1687323;1700760;2139018 D22S1178;D22S1261;D22S307;D22S410E;RH104005 MGC133218;SEP3;bK250D10.3 OTTHUMP00000028742;OTTHUMP00000199651;OTTHUMP00000199652;neuronal-specific septin 3;neuronal-specific septin-3 APPROVED protein-coding ENSG00000100167 HGNC:10750 10515 608314 REVIEWED 8694765 SEPT7-AS1 SEPT7 antisense RNA 1 (head to head) 7 7 p14.2 35797801 35833627 - 35751856 35800621 - 16344560 101928545 ABBA01056888;AC007551;AMYH02015520;BX502136;DA298199;DA751237;DB248344;HG500180;HG500181;HG500182;NR_120511;NR_120512;XR_242161;XR_250172;XR_252199 Hs.648103 ncrna ENSG00000228878 HGNC:51153 VALIDATED 1342947 SEPT2 septin 2 ENCODES a protein that exhibits enzyme regulator activity (inferred); GTP binding (inferred); protein complex scaffold (inferred); INVOLVED IN cilium assembly (ortholog); smoothened signaling pathway (ortholog); FOUND IN actin cytoskeleton; cytoplasm; extracellular vesicular exosome; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; benzo[a]pyrene diol epoxide I; cadmium dichloride 2 2 2 q37 235924022 235962784 + 242254723 242293442 + 241315187 241354027 + 6480464 10321247;10942595;12125979;12388755;12446710;12477932;12544826;12695511;14531065;15150837;15485874;15489334;15592455;15635413;15774761;15987492;16159877;16189514;16344560;16565220;16682951;16807684;16914550;17024187;17081983;17353931;17637674;17685441;17803907;18029348;18209106;18305167;18330356;18656699;18676680;19165576;19170196;19234302;19531213;19625176;19692168;19738201;20471030;20870893;20881960;21082023;21139048;21504731;21767235;21788367;21890473;21900206;21906983;21967827;22053931;22113938;22360420;22797925;22863883;22939629;23000965;23572511;24250222;24654937;24722188;24816145;8590280;8697812;9203580;9655500;9811347;9847074 4735 B5MCX3;B5MD47;C9IY94;C9IZU3;C9J2Q4;C9J938;C9JB25;C9JFT1;C9JG93;C9JQJ4;C9JSE7;C9JT15;C9JTV8;C9JZI2;F8WB65;F8WCX3;H7C1T1;H7C2Y0;H7C310;Q15019 AA482233;ABBA01006044;ABBA01006045;AC005104;AC104841;AF038404;AK294563;AMYH02006112;BC014455;BC033559;BC040676;BC043180;BG721140;BI561073;BX648000;CH471063;D28540;D63878;DB035463;DB091579;DB095611;NM_001008491;NM_001008492;NM_001282972;NM_001282973;NM_004404;NM_006155;XM_005247011;XM_005247012;XM_005247013;XM_006712546;XM_006712547;XM_006712548;XM_006712549;XM_006712550 AAB92377;AAH14455;AAH33559;AAY14718;ABM83173;ABM86373;BAA05893;BAA09928;BAG57759;EAW71258;EAW71259;EAW71260;EAW71261;NP_001008491;NP_001008492;NP_001269901;NP_001269902;NP_004395;NP_006146;Q15019;XP_005247068;XP_005247069;XP_005247070;XP_006712609;XP_006712610;XP_006712611;XP_006712612;XP_006712613 Hs.721234 1651285;1655466;1672559;1725715;1730143;1739025;1739959;1846578;2129839;2146391;2146393;2176113;7184670 A001W20;D15S949;D2S1880;D2S189E;D2S2576;D2S2704;D2S2850;G19712;G62117;RH17945;RH36196;SHGC-4202 DIFF6;KIAA0158;NEDD-5;NEDD5;Pnutl3;hNedd5 OTTHUMP00000200241;OTTHUMP00000200242;OTTHUMP00000200248;OTTHUMP00000200249;OTTHUMP00000200250;OTTHUMP00000200251;neural precursor cell expressed developmentally down-regulated protein 5;neural precursor cell expressed, developmentally down-regulated 5;septin-2 protein-coding ENSG00000168385 HGNC:7729 03297 601506 VALIDATED 1349682 SEPT7P1 septin 7 pseudogene 1 14 14 14 q13.2 15490736 15492039 - 35626902 35628205 - 35157696 35158999 - 317774 ABBA01061499;AL121594;AMYH02029005;NG_002472 CDC10P APPROVED pseudo HGNC:19926 INFERRED 1316585 SEPT6 septin 6 This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] X X X q24 119204389 119281983 - 118749687 118827333 - 119615724 119693370 - 634004;1580863;6480464 10744683 11064363;11584266;11809673;12096348;12388755;12446710;12477932;12544826;12665801;14531065;15489334;15772651;16189514;16843108;16914550;17110338;17207965;17229681;17353931;17637674;17803907;18029348;18047794;18330356;19531213;21082023;21110914;21788367;21890473;21900206;21906983;22505724;23000965;23455924;23535732;24722188;24816145;8590280 23157 B1AMS2;B4E049;Q14141;Q541S4;Q548C9 ABBA01036642;ABBA01036643;ABBA01036644;ABBA01036645;ABBA01036646;ABBA01036647;ABBA01036648;ABBA01036649;ABBA01036650;ABBA01036651;ABBA01036652;ABBA01036653;AC004913;AC005052;AF397023;AF403058;AF403059;AF403060;AF403061;AF403062;AK026589;AK290977;AK298487;AK299273;AK303116;AK303224;AL355348;AL833677;AMYH02040336;AMYH02040337;AMYH02040338;AY005981;AY034177;AY679521;BC009291;BC011922;BC036240;BC069231;CH471161;D50918;DC336432;NG_012565;NM_015129;NM_145799;NM_145800;NM_145802;XM_005262400;XM_006724748;XM_006724749;XM_006724750 AAF97496;AAH09291;AAH11922;AAH36240;AAH69231;AAK61492;AAK98547;AAK98548;AAK98549;AAK98550;AAK98551;AAN76547;AAT80339;ADQ32407;BAA09477;BAF83666;BAG60696;BAG61293;BAG64222;BAG64311;EAW89851;EAW89852;EAW89853;EAW89854;EAW89855;EAW89856;EAW89857;EAW89858;NP_055944;NP_665798;NP_665799;NP_665801;Q14141;XP_005262457;XP_006724811;XP_006724812;XP_006724813 Hs.496666 1651377;1655154;1666509;1681873;1697276;2121942 DXS7626;RH102135;RH12106;RH18205;RH25351;SHGC-37555 KIAA0128;MGC16619;MGC20339;RP5-876A24.2;SEP2;SEPT2 OTTHUMP00000023916;OTTHUMP00000023917;OTTHUMP00000023918;OTTHUMP00000023919;OTTHUMP00000023920;OTTHUMP00000023921;septin 2;septin-6 APPROVED protein-coding ENSG00000125354 HGNC:15848 06716 300683 REVIEWED 1350777 SEPT5 septin 5 This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010] 22 22 22 q11.21 3554100 3564410 + 19701987 19710845 + 19714464 19723322 + 6480464;6907045 10321247;11078524;11771754;11880646;12023038;12477932;12909369;14530399;14559152;14702039;15116257;15214843;15231747;15345747;15461802;15489334;16169070;16179808;16714300;16767699;17625225;18330356;18385322;18398426;18845538;21139048;21832049;21900206;22939629;23725790;24722188;9022087;9385360;9600980;9611266;9655500;9760144 5413 B4DJ62;C9JM82;E7EPG2;E7EQM7;E7EX32;F8W9E5;G3XAH0;H7C299;Q99719;X5DNA9 ABBA01005406;AC000093;AF006988;AK056273;AK295940;AMYH02038048;BC025261;BI601927;BQ448147;CH471176;CR456545;KJ534756;KJ534757;NM_001009939;NM_002688;U74628;U85431;Y11593 AAB93438;AAC39779;AAC39780;AAD00564;AAH25261;AHW56396;AHW56397;BAB71133;BAG58724;CAA72332;CAG30431;CAK54576;CAK54875;EAX03029;EAX03030;EAX03032;NP_001009939;NP_002679;Q99719 Hs.728762 1686022;2106571;2114032 AB056419;PNUTL1__5740;RH15728 CDCREL;CDCREL-1;CDCREL1;H5;HCDCREL-1;PNUTL1 OTTHUMP00000197271;OTTHUMP00000197272;OTTHUMP00000197273;OTTHUMP00000197274;OTTHUMP00000197275;OTTHUMP00000197276;OTTHUMP00000197396;OTTHUMP00000197410;cell division control related protein 1;cell division control-related protein 1;peanut-like 1;peanut-like protein 1;platelet glycoprotein Ib beta chain;septin-5 APPROVED protein-coding ENSG00000184702 HGNC:9164 04100 602724 REVIEWED 2298733 SEPT7P2 septin 7 pseudogene 2 Septins, such as SEPT13, are conserved GTP-binding proteins that function as dynamic, regulatable scaffolds for the recruitment of other proteins. They are involved in membrane dynamics, vesicle trafficking, apoptosis, and cytoskeleton remodeling, as well as infection, neurodegeneration, and neoplasia (Hall et al., 2005 [PubMed 15915442]).[supplied by OMIM, Jul 2008] 7 7 7 p12.3 45862299 45907541 - 45763386 45808617 - 45723787 45769018 - 6480464 12477932;12690205;14702039;15915442;16344560;23314748;9847074 641977 ABBA01058250;ABBA01058251;AC091439;AC096582;AK056032;AL832059;AMYH02015643;BC092503;CH236960;DA100871;NR_024271 Hs.723477 1653706;1782366;5022200;5106565 GDB:4585075;L18426;RH47788;SHGC-149993 DKFZp313J1114;FLJ14186;FLJ31470;SEPT13;SEPT7B APPROVED pseudo ENSG00000214765 HGNC:32339 611563 PROVISIONAL 1604654 SEPT7 septin 7 This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011] 7 7 7 p14.2 35824379 35928642 + 35840596 35946715 + 35800950 35907105 + 6480464 10931866;11584266;12388755;12477932;14531065;15342556;15485874;15489334;15592455;15635413;16159877;16344560;16914550;17081983;17353931;17500595;17637674;17685441;17803907;18029348;18330356;18460473;18543212;19221096;19322201;19426592;19531213;19779646;19916744;20035367;20352323;20379614;20385374;21082023;21139048;21509594;21616478;21767235;21788367;21824007;21906983;22064074;22505724;22623428;22797925;22863883;22939629;22956766;23000965;23383034;23442799;23572511;24055994;24345743;24685401;24816145;8037772;8125298;9655500 989 A8K3D0;B4DNE4;E7EPK1;E7ES33;G3V1Q4;H0Y3Y4;Q16181;Q5JXL7 AA853468;AB073389;AB209677;ABBA01056888;ABBA01056889;ABBA01056890;ABBA01056891;ABBA01056892;AC007551;AC087072;AI651908;AK223225;AK223241;AK290545;AK297883;AK298453;AK300601;AL050392;AMYH02015520;AMYH02015521;AMYH02015522;BC022442;BC025987;BC067264;BC093640;BC093642;BC107718;BI669760;BP280069;BQ229116;BQ232357;BX435313;BX571755;BX648365;CH236951;CH471073;DA352853;DC414394;DQ232879;KF305319;NM_001011553;NM_001242956;NM_001788;S72008;XM_006715806;XM_006715807;XM_006715808;XM_006715809;XM_006715810 AAB31337;AAH25987;AAH67264;AAH93640;AAH93642;AAI07719;ABB17294;ADR82997;AHX84171;BAD92914;BAE45719;BAF83234;BAG60206;BAG60668;BAG62298;CAE11880;CAI46224;EAW94059;EAW94060;EAW94061;EAW94062;NP_001011553;NP_001229885;NP_001779;Q16181;XP_006715869;XP_006715870;XP_006715871;XP_006715872;XP_006715873 Hs.191346 1655721;1664144;1665466;1672532;1697994;1795526;2116172;5014757;5107179 CDC10_514;D7S2641;D7S3201;G10723;RH102526;RH11850;STS-H79300;STS-S72008;WI-9389 CDC10;CDC3;DKFZp686M10191;Nbla02942;SEPT7A CDC10 (cell division cycle 10, S. cerevisiae, homolog);CDC10 cell division cycle 10 homolog;CDC10 protein homolog;OTTHUMP00000207203;OTTHUMP00000207204;septin 7 variant 4;septin-7 APPROVED protein-coding ENSG00000122545 HGNC:1717 04398 603151 REVIEWED 3003949 SEPT7P7 septin 7 pseudogene 7 9 9 9 q22.33 71877953 71884440 + 101364031 101370518 + 98601749 98608236 + 100130564 ABBA01042912;ABBA01042913;AL353782;AMYH02021325;NG_016426;NG_021463 FLJ36928 pseudo HGNC:38043 INFERRED 3516298 SEPT7P6 septin 7 pseudogene 6 7 7 7 146622066 146623046 + 152064592 152065572 + 152367507 152368487 + 100418720 ABBA01035137;AC104692;AMYH02017084;NG_022577;NG_033948 1847408 SGC34800 pseudo HGNC:38042 INFERRED 1353969 SEPT7P9 septin 7 pseudogene 9 INTERACTS WITH methyl methanesulfonate; (S)-nicotine (ortholog); 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (ortholog) 1 10 10 p11.1 135891530 135891723 - 38671997 38691780 - 38383069 38402852 - 6480464 12477932;14702039 285961 ABBA01033278;ABBA01033279;ABBA01033280;ABBA01033281;AL133216;AMYH02022663;BC042387;BC048143;BC171738;NR_027269 Hs.406568 CDC10L;SEPT7L;bA291L22.2 APPROVED pseudo HGNC:30810 VALIDATED 3516296 SEPT7P8 septin 7 pseudogene 8 19 19 19 51317047 51317638 - 54275949 54276540 - 53772695 53773286 - 100418735 ABBA01068200;AC008753;AMYH02036431;NG_021752 pseudo HGNC:38044 INFERRED 1349607 SEPT4 septin 4 This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010] 17 17 17 q22 53059414 53071208 - 56597611 56618179 - 58520250 58540818 - 6480464;8554872 10340703;11146656;11167005;11511094;12032658;12477932;12544826;12695511;14559152;14702039;15029247;15116257;15122323;15214843;15254396;15489334;15837787;16344560;16376484;16464805;17105210;17296554;17383018;17546647;17644312;17685441;17764158;17893145;18029348;18617022;18951507;19165527;19221096;19523119;20877624;21185211;21824006;21869827;21898991;21938432;21952823;22185822;22503047;23180367;23479728;23666239;9889007 5414 J3KS26;J3KS85;J3KSZ7;J3QLA8;J3QLR2;J3QRS4;J3QRT6;J3QRU3;O43236 AB002110;AB008753;AB010642;ABBA01041340;AC005666;AF035811;AF073312;AF176379;AK091065;AK094579;AK126631;AK294094;AK295527;AK301914;AK302146;AK308957;AK314528;AK315045;AK315396;AMYH02033690;BC018055;BC018056;BC128255;BC128515;BC142968;CH471109;CR457111;D89278;DA076433;DA180095;DA343015;DC361494;NG_029570;NM_001198713;NM_001256782;NM_001256822;NM_004574;NM_080415;NM_080416;NR_037155;NR_104196;NR_104197;U88829;U88870;XM_006721949;XM_006721950;XM_006721951;XM_006721952;XM_006721953;XM_006721954;XM_006721955 AAB88512;AAC25673;AAD00653;AAD00657;AAG45673;AAH18056;ABM83262;ABM86467;BAB46922;BAB70694;BAB70695;BAG37122;BAG37789;BAG52275;BAG52891;BAG57432;BAG58440;BAG63338;BAG63517;CAG33392;EAW94440;EAW94441;EAW94442;EAW94443;EAW94444;EAW94445;EAW94446;EAW94447;EAW94448;EAW94449;EAW94450;EAW94451;EAW94452;EAW94453;NP_001185642;NP_001243711;NP_001243751;NP_004565;NP_536340;NP_536341;O43236;XP_006722012;XP_006722013;XP_006722014;XP_006722015;XP_006722016;XP_006722017;XP_006722018 Hs.287518 1649357;1736624;2163980;2176051 D17S1387E;D17S1470E;SHGC-32067;WI-15444 ARTS;CE5B3;H5;MART;PNUTL2;SEP4;hCDCREL-2;hucep-7 BRADEION;CE5B3 beta;apoptosis-related protein in the TGF-beta signaling pathway;bradeion beta;brain protein H5;cell division control-related protein 2;cerebral protein 7;peanut-like 2;peanut-like protein 2;septin-4;septin-M APPROVED protein-coding ENSG00000108387 HGNC:9165 04738 603696 REVIEWED 737006 SEPW1 selenoprotein W, 1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein shows highest expression in skeletal muscle and heart, and may be involved in oxidation-reduction reactions. A retroprocessed pseudogene, SEPW1P, has been identified and mapped to chromosome 1p35-34. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 45087540 45093641 + 48281842 48287939 + 47778585 47784682 + 6480464 10708517;11215511;12477932;12775843;12818432;14702039;15489334;15670848;15823556;17503775;19387567;19690192;21866568;21875573;22730327;23830627;7896009;9256076 6415 F8WB74;M0QYX1;P63302 ABBA01041056;AC008745;AF015283;AF247455;AK026717;AK091604;AMYH02036270;BC000581;BC032546;BC039597;BC047893;BF032577;BF973456;BU185196;CH471126;NM_003009;U67171 AAB69859;AAC51665;AAH00581;AAH32546;AAH39597;AAH47893;AAL00898;EAW57511;EAW57512;EAW57513;NP_003000;P63302 Hs.631549 2114323;2175129;5014051;5015619;5016478;5017227;5020740;5020885;5020946;5022200;5022578;5024272;5024413;5024756;5037552;5118444 D11S3114;D11S3316;D1S1423;D2S1254;D8S2278;D8S2279;G38154;GDB:434012;L17791;L17809;L17877;L17971;L18426;RH41798;RH80030;SHGC-16175 selW selenoprotein W APPROVED protein-coding ENSG00000178980 HGNC:10752 08377 603235 REVIEWED 1344473 SEPW1P selenoprotein W, 1 pseudogene 1 1 1 p35.2 29823946 29825013 - 31567418 31568485 - 31094571 31095638 - 12818432 23679 ABBA01023483;AF083062;AL356320;AMYH02000675;NG_002791 pseudo HGNC:10753 INFERRED 1349459 SEPT9 septin 9 This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009] 17 17 17 q25 71879127 72091668 + 75277492 75496678 + 77281410 77500596 + 1599349;6480464;7240710;8554872;8699517 16186812 10231032;10339604;10485469;10673328;10673329;10987277;11593400;12095151;12388755;12477932;12626509;14648661;14702039;15231747;15302935;15485874;15489334;15782116;16007136;16159877;16161048;16169070;16344560;16424018;16964243;17081983;17110338;17468182;17546647;17922164;18029348;18075300;18492087;18525421;18642054;19018278;19071215;19139049;19204161;19251694;19406918;19451530;19531213;19738201;19851296;19939853;19953087;20019224;20029986;20098747;20113838;20140221;20198315;20301569;20407014;20562859;20682395;20966902;21059847;21139048;21267688;21693764;21737677;21767235;21831286;21832049;21890473;21906983;21963094;22123865;22278362;22337587;22505724;22632162;22797925;22837378;22939629;22956766;22981636;23000965;23049919;23118862;23443559;23572511;23862763;23942779;23988185;23990466;24067372;24127542;24344182;24386354;24457600;24816145;25027693;9439655 10801 K7EIE4;K7EIR4;K7EJ51;K7EJL9;K7EJV0;K7EJZ2;K7EK18;K7EKF9;K7EKN4;K7EL40;K7ELJ9;K7EMW8;K7EN52;K7ENL0;K7ENQ5;K7EPY1;K7EQ08;K7EQD7;K7ER14;K7ER34;K7ER52;K7ERG1;Q9UHD8 AA523782;AB023208;ABBA01002960;ABBA01002961;ABBA01028696;ABBA01028697;ABBA01028698;ABBA01028699;ABBA01028700;ABBA01028701;ABBA01028702;ABBA01028703;ABBA01028704;ABBA01028705;ABBA01028706;ABBA01028707;AC068594;AC111170;AC111182;AF123052;AF142408;AF142569;AF189712;AF189713;AJ312319;AJ312320;AJ312321;AJ312322;AJ312323;AK022493;AK056495;AK290368;AK299828;AK300268;AK300270;AK303449;AK304143;AK316473;AL080131;AMYH02034033;AMYH02034034;AMYH02034035;AMYH02034036;AMYH02034037;BC018877;BC021192;BC054004;BC064642;BC114550;BQ279153;BT007215;CH471099;CN393537;DA234895;DB007851;DB148645;DC307336;DC410238;NG_011683;NM_001113491;NM_001113492;NM_001113493;NM_001113494;NM_001113495;NM_001113496;NM_001293695;NM_001293696;NM_001293697;NM_001293698;NM_006640;XM_005256959;XM_005256960;XM_005256961;XM_005256962;XM_006721643;XM_006721644 AAD39749;AAF23373;AAF23374;AAG27919;AAG27922;AAH21192;AAH54004;AAI14551;AAP35879;ABM84718;ABM92240;BAA76835;BAB14057;BAF83057;BAG51732;BAG62029;BAG62031;BAG64494;BAG65036;BAH13140;BAH14844;CAB45728;CAC42221;CAC42222;CAC42223;CAC42224;CAC42225;EAW89461;EAW89462;EAW89463;EAW89464;EAW89465;EAW89466;EAW89467;EAW89468;NP_001106963;NP_001106964;NP_001106965;NP_001106966;NP_001106967;NP_001106968;NP_001280624;NP_001280625;NP_001280626;NP_001280627;NP_006631;Q9UHD8;XP_005257016;XP_005257017;XP_005257018;XP_005257019;XP_006721706;XP_006721707 Hs.440932 1336707;1338539;1341087;1341390;1341588;1678091;1687820;1688460;1694718;1750667;1783468;1847218;1852008 AFM267xh1;D17S1603;D17S705;D17S802;D17S937;D17S939;RH121931;RH35918;RH45518;RH98696;RH98887;SHGC-111980;SHGC-112100 AF17q25;FLJ75490;KIAA0991;MSF;MSF1;NAPB;PNUTL4;SINT1;SeptD1 MLL septin-like fusion protein MSF-A;Ov/Br septin;ovarian/breast septin;septin D1;septin-9 APPROVED protein-coding ENSG00000184640 HGNC:7323 10360 162100;604061 REVIEWED 1349770 SERAC1 serine active site containing 1 The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012] 6 6 6 q25.3 159179384 159237341 - 158530536 158589312 - 158109504 158168280 - 6480464;8699517;8554872;7240710 12477932;14574404;14702039;15489334;16344560;16527507;19282972;20379614;21423545;21832049;22683713;23707711;23918762;24741715;8889549 84947 Q5JVM6;Q96JX3;U3KQE4;U3KQG3 AA128978;ABBA01021100;AK023656;AK027823;AK125878;AL135907;AL590703;AMYH02014835;AMYH02014836;AMYH02014837;BC001705;BC028594;BC048335;BC060795;BX648104;CH471051;DA232092;DB046171;NG_032889;NM_032861;NR_073096;XM_006715585;XM_006715586;XR_427975 AAH01705;AAH28594;BAB55393;EAW47664;NP_116250;Q96JX3;XP_006715648;XP_006715649 Hs.154706 1340487;1690462;2144137;2154979;5014051;5015619;5022578;5037552;5109281;5109655 AFM309yb9;D11S3114;D1S1423;D1S1425;D6S1120E;D6S363;D8S2278;D8S2279;RH76368;RH77847 FLJ14917;FLJ30544 MEGDEL;OTTHUMP00000017498;OTTHUMP00000017499;serine active site-containing protein 1 APPROVED protein-coding ENSG00000122335 HGNC:21061 10223 614725;614739 REVIEWED 1318222 SEPT8 septin 8 This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 5 5 5 q31 128216608 128243585 - 132086509 132113976 - 132750817 132778012 - 1580863;6480464 10704283;12023038;12098780;12475938;12477932;12909369;15116257;15214843;15489334;16159877;16344560;16767699;17353931;17625225;17685441;18029348;18187620;19531213;20379614;20485362;20544379;21139048;21890473;21900206;22505724;23000965;23442799;8889548;9039502;9149945 23176 A6NFQ9;A6NMH6;B7ZVZ1;C9J4G8;C9JV02;F8W8I8;Q92599 ABBA01068801;ABBA01068802;AC004775;AF179995;AF440761;AF440762;AF440763;AI087126;AK057797;AMYH02012219;AMYH02012220;BC001329;BC140759;BC171779;BU739074;CH471062;D86957;DA261871;KF459593;NM_001098811;NM_001098812;NM_001098813;NM_001300798;NM_001300799;NM_015146;XM_005271927;XM_005271928;XM_005271929;XM_005271930;XM_005271931 AAG09407;AAH01329;AAI40760;AAI60179;AAI71779;AAO13878;AAO13879;AAO13880;BAA13193;EAW62315;EAW62316;EAW62317;NP_001092281;NP_001092282;NP_001092283;NP_001287727;NP_001287728;NP_055961;Q92599;XP_005271984;XP_005271985;XP_005271986;XP_005271987;XP_005271988 Hs.522057 1698462;1785372;1798712;1798762;1798992;1799490;1799902;1799904;1800902;1801018;1801360;1801536;1801626;1802114;1802716;1802998;1804682;1805778;1806686;1807076;1807542;1810676;1816188;1817726;1818926;1821514;1822018;1824306;1824308;1826238;1826574;1833856;1838672;1839512;1854100;2001240;2001242;2001244;2001246;2001248;2001250;2001252;2001254;2001256;2001258;2001260;2001262;2001264;2001266;2001268;2001270;2001272;2001274;2001276;2001278;2001280;2001282;2001284;2001286;2001288;2001290;2001292;2001294;2001296;2001298;2001300;2001302;2001304;2001306;2001308;2001310;2001312;2001314;2001316;2001318;2001320;2001322;2001324;2001326;2001328;2001330;2001332;2001334;2001336;2001338;2001340;2001342;2001344;2001346;2001348;2001350;2001352;2001354;2001356;2001358;2001360;2001362;2001364;2001366;2001368;2001370;2001372;2001374;2001376;2001378;2001380;2001382;2001384;2001386;2001388;2001390;2001392;2001394;2001396;2001398;2001400;2001402;2001404;2001406;2001408;2001410;2001412;2001414;2001416;2001418;2001420;2001422;2001424;2001426;2001428;2001430;2001432;2001434;2001436;2001438;2001440;2001442;2001444;2001446;2001448;2001450;2001452;2001454;2001456;2001458;2001460;2001462;2001464;2001466;2001468;2001470;2001472;2001474;2001476;2001478;2001480;2001482;2001484;2001486;2001488;2001490;2001492;2096430;2096432;2096434;2096436;2096438;2096440;2096442;2096444;2096446;2096448;2096450;2096452;2096454;2096456;2096458;2096460;2096462;2133470;5091772 ECD00196;ECD00221;ECD00339;ECD00596;ECD00805;ECD00806;ECD01316;ECD01375;ECD01552;ECD01646;ECD01691;ECD01939;ECD02245;ECD02390;ECD03273;ECD03840;ECD04300;ECD04503;ECD04743;ECD06332;ECD09134;ECD09916;ECD10527;ECD11841;ECD12095;ECD13251;ECD13252;ECD14231;ECD14401;ECD18074;ECD20510;ECD20938;REN71532;REN71533;REN71534;REN71535;REN71536;REN71537;REN71538;REN71539;REN71540;REN71541;REN71542;REN71543;REN71544;REN71545;REN71546;REN71547;REN71548;REN71549;REN71550;REN71551;REN71552;REN71553;REN71554;REN71555;REN71556;REN71557;REN71558;REN71559;REN71560;REN71561;REN71562;REN71563;REN71564;REN71565;REN71566;REN71567;REN71568;REN71569;REN71570;REN71571;REN71572;REN71573;REN71574;REN71575;REN71576;REN71577;REN71578;REN71579;REN71580;REN71581;REN71582;REN71583;REN71584;REN71585;REN71586;REN71587;REN71588;REN71589;REN71590;REN71591;REN71592;REN71593;REN71594;REN71595;REN71596;REN71597;REN71598;REN71599;REN71600;REN71601;REN71602;REN71603;REN71604;REN71605;REN71606;REN71607;REN71608;REN71609;REN71610;REN71611;REN71612;REN71613;REN71614;REN71615;REN71616;REN71617;REN71618;REN71619;REN71620;REN71621;REN71622;REN71623;REN71624;REN71625;REN71626;REN71627;REN71628;REN71629;REN71630;REN71631;REN71632;REN71633;REN71634;REN71635;REN71636;REN71637;REN71638;REN71639;REN71640;REN71641;REN71642;REN71643;REN71644;REN71645;REN71646;REN71647;REN71648;REN71649;REN71650;REN71651;REN71652;REN71653;REN71654;REN71655;REN71656;REN71657;REN71658;RH102780;RH25415;SHGC-132851;SHGC-53463;WI-14977;stSG601497;stSG601499;stSG601500;stSG601501;stSG601502;stSG601503;stSG601504;stSG601505;stSG601506;stSG601507;stSG601508;stSG601509;stSG601510;stSG601511;stSG601512;stSG601513;stSG601516 KIAA0202;SEP2 OTTHUMP00000066074;OTTHUMP00000066075;OTTHUMP00000066076;OTTHUMP00000066077;OTTHUMP00000066079;OTTHUMP00000066080;OTTHUMP00000211755;septin-8 APPROVED protein-coding ENSG00000164402 HGNC:16511 608418 REVIEWED 3516300 SEPT7P4 septin 7 pseudogene 4 7 7 7 58837794 58844525 + 62701968 62708699 - 63241590 63248321 - 100418715 ABBA01006354;ABBA01006355;AC006455;AMYH02015808;NG_022539 pseudo HGNC:38039 INFERRED 1603821 SERBP1P1 SERPINE1 mRNA binding protein 1 pseudogene 1 X X X q13.1 68356142 68359199 + 68003216 68006273 + 68783373 68786430 + 389866 ABBA01067388;AL353587;AMYH02039646;AMYH02039647;NG_005103 1736054 D1S2010E SERBP1P APPROVED pseudo HGNC:32247 INFERRED 2902550 SEPT7P3 septin 7 pseudogene 3 7 7 7 p14.2 45865397 45887238 - 35985900 36014302 + 35946290 35974692 + 12690205 646913 ABBA01056896;AC087072;AMYH02015522;CH236951;NG_008036 EAL23974 1665466;1732758;2171906 D7S1531;D7S2641;D7S2750 pseudo HGNC:38038 INFERRED 2794052 SERBP1P2 SERPINE1 mRNA binding protein 1 pseudogene 2 Y Y Y p11.2 1625 2909 - 4669051 4670970 - 4801010 4802929 - 12815422;9847074 359996 ABBA01069873;AC019060;NG_002917 pseudo HGNC:23967 INFERRED 7175944 SERBP1P4 SERPINE1 mRNA binding protein 1 pseudogene 4 X X X q21.31 91311885 91313045 - 90815437 90816597 - 91560438 91561598 - 100132591 AL627250;AMYH02039950;NG_022620 pseudo HGNC:44631 INFERRED 7175252 SERBP1P3 SERPINE1 mRNA binding protein 1 pseudogene 3 3 3 3 p21.1 53059232 53066154 - 53092184 53099107 - 53058168 53065091 - 553148 ABBA01024493;AC096887;AMYH02006821;AMYH02006822;NG_005109 1337876;1739205 D3S2321;D3S3275 pseudo HGNC:44630 INFERRED 3516299 SEPT7P5 septin 7 pseudogene 5 7 7 62956177 62962914 + 63495799 63502536 + 100418718 AC006457;AMYH02015840;NG_022560 pseudo HGNC:38041 INFERRED 7175181 SERBP1P5 SERPINE1 mRNA binding protein 1 pseudogene 5 4 4 4 q21.21 76403231 76405150 - 79101380 79103299 - 78180226 78182145 - 9847074 442112 ABBA01063377;AC093897;AMYH02009535;NG_005107;NG_015812 1739205 D3S3275 pseudo HGNC:44632 INFERRED 7175946 SERBP1P6 SERPINE1 mRNA binding protein 1 pseudogene 6 5 5 5 42355590 42359059 - 42465499 42468968 - 42465397 42468866 - 100420450 ABBA01024240;AC093225;AMYH02011227;NG_024590 pseudo HGNC:44635 INFERRED 1606807 SERBP1 SERPINE1 mRNA binding protein 1 ENCODES a protein that exhibits mRNA 3'-UTR binding; poly(A) RNA binding; INVOLVED IN regulation of apoptotic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; membrane; INTERACTS WITH 1-chloro-2,4-dinitrobenzene; 4-(ethoxymethylene)-2-phenyloxazol-5-one; 4-hydroxynon-2-enal 1 1 1 p31 66163237 66185855 - 67873493 67896123 - 67407810 67430440 - 6480464;8554872 10810093;11001948;11230166;11972486;12027469;12477932;12505151;14702039;15231747;15489334;15492215;15604093;16009940;16169070;16196087;16303743;16455055;16679534;16879614;16963292;16964243;17081983;17207965;17353931;17361185;17620599;17698176;18029348;18440126;18457437;18632687;18654987;18781797;19135240;19322201;19380743;19471022;19836239;19946888;20020773;20360068;21139048;21145461;21693764;21832049;21890473;21900206;21906983;21963094;21987572;22053931;22113938;22373659;22379092;22412388;22442049;22505724;22586326;22863883;22939629;22963397;22990118;23000965;23236990;23398456;23455924;23463506;23741361;23862649;23940030;24244333;24374978;24654937;24816145;8125298;8619474;9110174 26135 Q5VU21;Q63HR1;Q8NC51 ABBA01074517;ABBA01074518;AF131807;AF151813;AK074970;AK095960;AK130606;AK222955;AK223138;AK312256;AL080119;AL358512;AL590559;AMYH02001206;AY032853;BC002488;BC003049;BC008045;BC017449;BC019273;BC020555;BC026916;BC036414;BI464676;BX647139;CH471059;CR457383;NM_001018067;NM_001018068;NM_001018069;NM_015640 AAD34050;AAH02488;AAH03049;AAH08045;AAH17449;AAH19273;AAH20555;AAH26916;AAK51130;ACE86556;ACE87060;ACE87133;ACE87238;ACE87741;ADQ32172;BAC11324;BAD96675;BAD96858;BAG35188;CAB45718;CAG33664;CAH56188;EAX06489;EAX06490;EAX06491;EAX06492;EAX06493;EAX06494;EAX06495;EAX06496;EAX06497;NP_001018077;NP_001018078;NP_001018079;NP_056455;Q8NC51 Hs.530412 1644532;1663049;1668962;1677672;1710150;1736054;1739205;2115047;2125975;2152333;2182391;5020798;5021203;5111945;5113906;5117224;5124922 D1S2010E;D1S2367;D3S3275;G34821;G43269;GDB:451849;HUM0C12C01;RH47127;RH47128;RH64710;RH65037;RH65162;RH70271;SHGC-37015;SHGC-74956;SHGC-82332;STS-H42500 CGI-55;CHD3IP;DKFZp564M2423;FLJ90489;HABP4L;PAI-RBP1;PAIRBP1 OTTHUMP00000010977;OTTHUMP00000010978;OTTHUMP00000037681;OTTHUMP00000037682;PAI-1 mRNA binding protein;PAI1 RNA-binding protein 1;SERPINE1 mRNA-binding protein 1;chromodomain helicase DNA binding protein 3 interacting protein;plasminogen activator inhibitor 1 RNA binding protein;plasminogen activator inhibitor 1 RNA-binding protein protein-coding ENSG00000142864 HGNC:17860 607378 VALIDATED 6769422 SERF1AP1 small EDRK-rich factor 1A (telomeric) pseudogene 1 4 4 4 q28.3 135556997 135557183 - 138222158 138222341 - 137301004 137301187 - 100131921 ABBA01044900;AC104797;AMYH02010172;NG_030215 pseudo HGNC:44061 INFERRED 1350108 SERF1A small EDRK-rich factor 1A (telomeric) This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq, Jul 2008] 5 5 5 q13 66254473 66261935 - 70196490 70214357 + 70900663 70918530 + 1580863;6480464 10486205;11181995;12477932;15489334;17207965;18624398;19154529;20723760;21821450;21832049;21963094;22854022;9503025;9731538 8293 D6RC42;D6RC90;D6RCL9;E5RHJ0;E5RIQ9;E5RIX6;O75920 ABBA01143181;AC139494;AC139834;AC244260;AF073518;AF073519;AF073520;BC021174;BC035932;BC093880;BC093882;BX107837;CH878701;DB444407;NM_021967;NM_022968 AAC63517;AAC63518;AAH21174;AAH35932;AAH93880;AAH93882;ADQ32011;EAW50867;NP_068802;NP_075257;O75920 Hs.726820 1698942;1743521;1743527;2219686 D5F149S1;D5F154S1;RH103040;SERF1B__5381 4F5;FAM2A;H4F5;SERF1;SERF1B;SMAM1 OTTHUMP00000221991;OTTHUMP00000221992;OTTHUMP00000222105;SMA modifier 1;small EDRK-rich factor 1;spinal muscular atrophy-related gene H4F5 APPROVED protein-coding ENSG00000172058 HGNC:10755 04308 603011 REVIEWED 1353994 SERF1B small EDRK-rich factor 1B (centromeric) This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008] 5 5 5 q13.2 4848 6442 + 69321078 69338935 + 70025251 70043108 + 6480464 10486205;12477932;12766061;15489334;24250222;8889548;9731538 728492 D6RC42;D6RC90;D6RCL9;O75920 ABBA01159831;AC004999;AC139277;AC244635;AC245690;BC101970;BC103687;BC104738;BC143255;BC143260;BC171749;BM686659;CD679521;DB454907;NM_001178087;NM_022978 AAI01971;AAI03688;AAI04739;AAI43256;AAI43261;AAI71749;NP_001171558;NP_075267;O75920 Hs.559428 1698942;1743521;1743527;2219686 D5F149S1;D5F154S1;RH103040;SERF1B__5381 FAM2B;H4F5C;MGC125278;MGC125279;MGC125280;SERF1A;h4F5 OTTHUMP00000221945;OTTHUMP00000221946;OTTHUMP00000221947;SMA modifier 1;protein 4F5;small EDRK-rich factor 1 APPROVED protein-coding ENSG00000205572 HGNC:10756 REVIEWED 1346851 SERHL serine hydrolase-like (pseudogene) ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH calcitriol; coumestrol; testosterone 22 22 22 q13.2 26702859 26705553 + 42896585 42908566 + 42500579 42512560 + 1580863;6480464;8554872 10591208;12477932;12529303;14702039;15461802;15489334;16344560 94009 Q8N1U3;Q9NQF3 ABBA01055680;ABBA01055681;ABBA01055682;AK094872;AL022316;AL365513;AMYH02038459;AMYH02038460;BC093888;CH471095;DA273263;NR_027786 AAH93888;BAC04444;CAB97209;EAW60507;Q9NQF3 Hs.360940 1648115;1667147;2111420;2138816;2152048;2158413;2219688 A008L30;D22S1143;SERHL__5382;STS-T78900;WI-13406;WI-14068;WI-14105 BK126B4.1;BK126B4.2;HS126B42;dJ222E13.1 APPROVED pseudo ENSG00000172250 HGNC:14408 10465 607979 VALIDATED 1603222 SERGEF secretion regulating guanine nucleotide exchange factor ENCODES a protein that exhibits Ran guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN negative regulation of protein secretion; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; intermediate filament cytoskeleton; nucleolus; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 11 11 11 p14.3 17942106 18166667 - 17809595 18034709 - 17788048 18013162 - 6480464;8554872 10571079;10737800;12459492;12477932;14980502;15489334;18029348;23455924;8889548 26297 A8K8C1;B4DFC0;E9PIU4;E9PIV0;E9PL52;E9PMV6;E9PR50;E9PS70;G3V1B4;H0YD20;H0YDC8;H0YE53;H0YEL8;H0YEV5;Q9UGK8 ABBA01061060;ABBA01061061;AC055860;AC124058;AC124078;AF086056;AJ243950;AJ243951;AK292286;AK294022;AMYH02024384;AMYH02024385;BC000707;BC065375;BE075522;BM709308;BU932034;CB051322;CH471064;NM_012139;NR_104040;NR_104041 AAH65375;BAF84975;BAG57381;CAB60832;CAB60833;EAW68423;EAW68424;NP_036271;Q9UGK8 Hs.32470 1338822;1656746;1659644;1698102;1711168;1714771;2109231;2149377;2151954;7185523;7185896;7185897 D11S1310;D11S2304E;DELGEF_9483;G31087;RH102583;RH120051;RH46127;SHGC-85327;STS-AA002069 Gnefr DELGEF;OTTHUMP00000232777;OTTHUMP00000232778;OTTHUMP00000232779;OTTHUMP00000232780;OTTHUMP00000232781;deafness locus associated putative guanine nucleotide exchange factor;deafness locus-associated putative guanine nucleotide exchange factor;guanine nucleotide exchange factor-related protein;secretion-regulating guanine nucleotide exchange factor protein-coding ENSG00000129158 HGNC:17499 06926 606051 VALIDATED 1602055 SERHL2 serine hydrolase-like 2 ENCODES a protein that exhibits hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); FOUND IN cytoplasmic membrane-bounded vesicle (inferred); mitochondrion (inferred); peroxisome (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; isotretinoin; pirinixic acid 22 22 22 q13 26860413 26880873 + 42949858 42970703 + 42553852 42574382 + 6480464 10591208;11181995;11352564;12477932;12529303;15461802;15489334;20877624;21906983 253190 A6ND93;B4DGG4;F2Z3M3;Q9H4I8 ABBA01017933;ABBA01017934;AK294584;AK295223;AL450314;AL589866;AL590118;AL590120;AMYH02038463;AW134760;BC041802;BC119650;BC119651;BC127635;BC127636;BI603374;CH471138;CR456455;CS566152;DC315058;NM_001284334;NM_014509;NR_104300;NR_104301;XM_006724222;XR_244363;XR_430405;Z93241 AAI19651;AAI19652;AAI27636;AAI27637;BAG57775;BAG58216;CAC16804;CAC34477;CAC34871;CAC34873;CAG30341;CAK54436;CAK54735;CAN37627;EAW73255;EAW73256;EAW73257;EAW73258;EAW73259;NP_001271263;NP_055324;Q9H4I8;XP_006724285 Hs.728878 1648115;1667147;2138816;2152048;2158413;2219688;5037552 A008L30;D8S2279;SERHL__5382;STS-T78900;WI-13406;WI-14068;WI-14105 MGC149508;MGC157667;MGC157668;dJ222E13.1 OTTHUMP00000198668;OTTHUMP00000198669;OTTHUMP00000232531;kraken-like;serine hydrolase-like protein 2 protein-coding ENSG00000183569 HGNC:29446 15908 VALIDATED 1344606 SERF2 small EDRK-rich factor 2 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol (ortholog); nucleus (ortholog); INTERACTS WITH 17beta-estradiol; 5-fluorouracil; cobalt dichloride 15 15 15 q15.3 20973939 20977749 + 44069294 44088287 + 43777096 43796089 + 6480464;8554872 11042152;12477932;14702039;15231747;15342556;15489334;16169070;16189514;16344560;16713569;16916647;16927404;17568003;20723760;24816145;8889548;9700202;9731538 10169 B8ZZY7;B9A031;C9JQZ0;F8WBN3;F8WBV6;P84101 ABBA01039223;AC018512;AF073298;AF320073;AK000479;AK094846;AK307547;AL049976;AMYH02030324;AV713454;BC008214;BC009869;BC015491;BC022326;BC038893;BI260545;BM970646;BP317864;BQ061048;DA051124;DA302996;DB060650;EF212272;NM_001018108;NM_001199875;NM_001199876;NM_001199877;NM_001199878;NR_037672 AAC63516;AAH15491;AAH22326;AAK07636;ABM82421;ABM85612;NP_001018118;NP_001186804;NP_001186805;NP_001186806;NP_001186807;P84101 Hs.424126;Hs.604985;Hs.732549 1736810;1805516;1805820;1805904;1806218;1806380;1933598;1933690;1933692;1933694;1933696;1933698;1933700;1933702;1933704;1933706;1933708;1933710;1933712;1933714;1933716;1933718;1933720;1933722;1933724;1933726;1933728;1933730;1933732;1933734;1933736;1933738;2154049;2173819;2186551;2209086;2209088;2209090;2209092 D15S797;ECD03706;ECD03861;ECD03905;ECD04064;ECD04146;REN37632;REN37678;REN37679;REN37680;REN37681;REN37682;REN37683;REN37684;REN37685;REN37686;REN37687;REN37688;REN37689;REN37690;REN37691;REN37692;REN37693;REN37694;REN37695;REN37696;REN37697;REN37698;REN37699;REN37700;REN37701;REN37702;RH41787;RH47782;WI-18240;stSG627949;stSG627950;stSG627951;stSG627952 4F5REL;FAM2C;FLJ20431;FLJ37527;FLJ38557;H4F5rel;HsT17089;MGC48826 OTTHUMP00000066299;OTTHUMP00000066300;OTTHUMP00000161393;OTTHUMP00000200122;OTTHUMP00000200123;OTTHUMP00000200124;OTTHUMP00000204316;gastric cancer-related protein VRG107;protein 4F5-related protein-coding HGNC:10757 05447 605054 VALIDATED 1349070 SERINC1 serine incorporator 1 ENCODES a protein that exhibits L-serine transmembrane transporter activity (ortholog); INVOLVED IN L-serine transport (ortholog); phosphatidylserine metabolic process (ortholog); positive regulation of transferase activity (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; endoplasmic reticulum membrane (ortholog); plasma membrane (ortholog); INTERACTS WITH (-)-demecolcine; arsenous acid; benzo[a]pyrene diol epoxide I 6 6 6 q22.31 123508786 123537260 - 122764493 122793051 - 122443348 122471807 - 1580863;6480464;8554872 10574462;10637174;10931946;12477932;12975309;14574404;15489334;17081983;17207965;18978678;20195357;21890473;21906983;21963094;21988832;22053931;22939629;23000965;24250222 57515 Q9NRX5 AB033079;ABBA01025984;AF087902;AF092436;AF164794;AK075339;AL137261;AMYH02014410;AMYH02014411;AMYH02014412;AY358429;BC014412;BC028607;BC033029;CH471051;NM_020755;Z99129 AAF80758;AAH28607;AAH33029;AAP97200;AAP97211;AAQ88795;ADQ32715;ADZ15376;BAA86567;CAB70662;EAW48172;EAW48173;NP_065806;Q9NRX5 Hs.146668 1652351;1652353;1672145;2152637;2162056;2170145;5016781 A005A16;D6S1230E;D6S1418;G20260;IB477;SHGC-67307;WI-18000 KIAA1253;TDE1L;TDE2;TMS-2;TMS2 OTTHUMP00000017112;tumor differentially expressed 1 protein-like;tumor differentially expressed 2;tumor differentially expressed protein 1-like;tumor differentially expressed protein 2 protein-coding ENSG00000111897 HGNC:13464 15480 614548 PROVISIONAL 1604715 SERINC5 serine incorporator 5 ENCODES a protein that exhibits L-serine transmembrane transporter activity (inferred); INVOLVED IN phosphatidylserine metabolic process (ortholog); positive regulation of transferase activity (ortholog); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 5 5 5 q14.1 75308393 75453225 - 79407050 79551898 - 80111227 80256079 - 6480464 12477932;12688535;15637075;17672918;19056867;20379614;23979607 256987 D6RHG7;Q86VE9 ABBA01062030;ABBA01062031;AC010260;AC012636;AF498273;AK026295;AK297467;AMYH02011660;AMYH02011661;BC101280;BC101281;BC101282;BC101283;BU681476;CH471084;DC354040;KF457934;KF510917;KF510918;KF510925;KF510928;NM_001174071;NM_001174072;NM_178276;NR_126060;NR_126061;XM_005248478 AAI01281;AAI01282;AAI01284;AAP06800;BAG59889;EAW95843;EAW95844;EAW95845;NP_001167542;NP_001167543;NP_840060;Q86VE9;XP_005248535 Hs.288232 1655881;1659154;2117728;2121508;2127805;2142232;2142234;2144643;2145422;2178911;5017423;5022450;5121802 A006W30;D10S275;D5S2485;D5S2675;L28256;NIB1185;RH16321;RH68505;RH68715;RH78501;SHGC-33799;SHGC-35055;STS-T96036 C5orf12;TPO1 OTTHUMP00000222342;OTTHUMP00000222451;OTTHUMP00000222452;OTTHUMP00000222579 protein-coding ENSG00000164300 HGNC:18825 12828 614551 VALIDATED 1346471 SERP2 stress-associated endoplasmic reticulum protein family member 2 INVOLVED IN protein transport (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH atrazine; dimethyl sulfoxide; hydralazine 13 13 13 q14.11 26004057 26027937 + 44947978 44971850 + 44373842 44397714 + 6480464 12477932;15057823;15489334;16189514;24204828;24816145 387923 F2Z2S5;H7C5W3;Q8N6R1 ABBA01021233;AL138960;AMYH02027952;BC029067;CH471075;NM_001010897 AAH29067;EAX08708;NP_001010897;Q8N6R1 Hs.377972 1338856;1685415 D13S326;RH92598 C13orf21;MGC35505;RP11-269C23.1;bA269C23.1 OTTHUMP00000018334;ribosome-associated membrane protein RAMP4-2;stress-associated endoplasmic reticulum protein 2 protein-coding ENSG00000151778 HGNC:20607 16590 PROVISIONAL 1606056 SERINC4 serine incorporator 4 INVOLVED IN phospholipid biosynthetic process (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred) 15 15 15 q15.3 20976627 20981717 - 44086372 44092295 - 43794174 43800097 - 6480464 12477932;14702039;16120614 619189 A6NH21;A6NM42;F8WBD8;H7C188;H7C303 ABBA01039223;AC018512;AK097682;AMYH02030324;BC136669;BX647438;CH471082;DQ103711;NM_001258031;NM_001258032 A6NH21;AAI36670;AAZ80298;EAW77244;EAW77245;EAW77246;NP_001244960;NP_001244961 Hs.604985 1711310;1736810;1805516;1805632;1805984;1806558;1815924;1817030;1833784;1836164;1933722;1933724;1933726;1933728;1933730;1933732;1933734;1933736;1933738;1933740;1933742;1933744;1933746;1933748;1933750;1933752;1933754;1933756;1933758;1933760;1933762;1933764;1933766;1933768;1933770;1933772;1933774;1933776;1933778;1933780;1933782;1933784;1933786;2154049;2173819;2175857;2186551;2209094;2209096;2209098;2209100 D15S797;ECD03706;ECD03766;ECD03945;ECD04236;ECD09002;ECD09564;ECD18037;ECD19243;REN37694;REN37695;REN37696;REN37697;REN37698;REN37699;REN37700;REN37701;REN37702;REN37703;REN37704;REN37705;REN37706;REN37707;REN37708;REN37709;REN37710;REN37711;REN37712;REN37713;REN37714;REN37715;REN37716;REN37717;REN37718;REN37719;REN37720;REN37721;REN37722;REN37723;REN37724;REN37725;REN37726;RH41787;RH47782;SHGC-33350;SHGC-84907;WI-18240;stSG627953;stSG627955;stSG627956;stSG627957 FLJ40363 OTTHUMP00000066510 protein-coding ENSG00000184716 HGNC:32237 614550 VALIDATED 1601762 SERP1 stress-associated endoplasmic reticulum protein 1 INVOLVED IN activation of signaling protein activity involved in unfolded protein response (inferred); cellular protein metabolic process (inferred); cellular protein modification process (inferred); FOUND IN cytoplasmic microtubule; INTERACTS WITH celastrol; cisplatin; copper(2+) sulfate 3 3 3 q25.1 148672684 148677330 - 150259780 150264428 - 150541993 150546641 - 6480464 10601334;10931946;11076863;11230166;12477932;14702039;15489334;15489336;16344560;16381901;19913121;20516149;20628086;21103663;21816823;21832049;21956116;22419128;22526458;24816145;25015289 27230 C9JSB0;C9JUH5;Q9Y6X1 AA890577;AB022427;ABBA01058926;AC107426;AF136975;AK054644;AK090933;AK093929;AK098135;AK125413;AL136807;AMYH02007889;BC108314;BC112364;BC112365;CH471052;CR533472;DB022941;NM_014445;X75694 AAG49436;AAI08315;AAI12365;AAI12366;BAA81895;CAB66741;CAG38503;CAL37667;CAL38137;EAW78833;EAW78834;EAW78835;EAW78836;NP_055260;Q9Y6X1 Hs.713956 1660923;1660925;1735150;1857787;2128408;2132501;2161992 A002B48;D3S2808E;D3S2837E;G19910;RH15894;RH48541;SHGC-56912 MGC117327;MGC133321;MGC133322;RAMP4 OTTHUMP00000216427;ribosome associated membrane protein 4;ribosome-attached membrane protein 4 protein-coding ENSG00000120742 HGNC:10759 18037 VALIDATED 1353693 SERPINA10 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010] 14 14 14 q32.13 74803423 74813369 - 94749648 94759608 - 94283311 94293271 - 1580102;1580104;1580863;6480464;7240710;8554872 10829076;15461625 10460162;11049983;11751269;12477932;12975309;15014966;15489334;16079143;16093243;16335952;16527896;17582153;18710385;18768472;19172319;19913121;20024489;20427285;20458435;20628086;21220417;21975032;21988832;22039093;22274138;22399118;22424030;22540147;22786881;23269381;23530052;24158387;24172014;24315319;24960590;9689066 51156 G3V2W1;Q9UK55 ABBA01030417;AF181467;AI174900;AK314877;AL117259;AMYH02029782;AY358597;BC022261;BX248011;CH471061;NG_021202;NM_001100607;NM_016186;XM_005267733;XM_006720159;XM_006725163;XM_006725164 AAD53962;AAH22261;AAQ88960;ABM82923;ABM86113;BAG37392;CAD62339;EAW81564;EAW81565;EAW81566;NP_001094077;NP_057270;Q9UK55;XP_005267790;XP_006720222;XP_006725226;XP_006725227 Hs.118620 1664173 D14S1218 PZI;ZPI OTTHUMP00000245857;OTTHUMP00000245858;OTTHUMP00000245859;PZ-dependent protease inhibitor;protein Z-dependent protease inhibitor;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10;serpin A10 APPROVED protein-coding ENSG00000140093 HGNC:15996 09245 605271 REVIEWED 8548367 SERPINA15P serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 15, pseudogene q23.3 24172014 101930744 AC104582;NG_033926 pseudo HGNC:44397 INFERRED 1345910 SERPINA11 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 FOUND IN extracellular space (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene 14 14 14 q32.13 74964705 74975013 - 94908801 94919122 - 94442462 94452834 - 1302440;6480464 15014966 12477932;22808956;24172014 256394 Q86U17 ABBA01030416;ABBA01030417;AL132708;AMYH02029784;BC146962;BX248259;NM_001080451;XM_006720105 AAI46963;AAI52931;CAD62587;NP_001073920;Q86U17;XP_006720168 Hs.145890 OTTHUMP00000245877;antiproteinase-like 2;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11;serpin A11 protein-coding ENSG00000186910 HGNC:19193 PROVISIONAL 1352813 SERPINA13P serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene FOUND IN extracellular space (inferred) 14 14 14 q32.13 75163197 75169466 + 95107062 95113331 + 94640725 94646994 + 1302440 15014966 12477932;12975309;15769666;16395595;19240061;21903150;24172014 388007 Q6UXR4 ABBA01030411;ABBA01030412;AL049839;AMYH02029785;AY358238;CH471061;NR_015340 AAI56105;AAI56897;AAQ88605;EAW81593 Hs.527795 SERPINA13;UNQ6121 serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 13 APPROVED pseudo ENSG00000187483 HGNC:30909 18039 VALIDATED 1348482 SERPINA12 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 14 14 14 q32.13 75009490 75040042 - 94953611 94984181 - 94487274 94517844 - 737633;1580863;6480464;8554872 12477932 15014966;15489334;16030142;16298335;17207965;17991760;18375437;18726871;18800627;18848328;19114623;19356820;19554505;19816707;19913121;19951565;19952124;20018186;20045145;20060144;20095887;20156923;20379614;20488498;20580037;20605615;20626239;20628086;20850423;20975299;21139048;21442174;21513939;21545478;21646731;21738955;21798959;21893030;22032341;22116078;22246907;22417310;22539588;22907691;22982016;23041430;23123830;23135225;23160181;23206449;23206815;23225237;23251661;23307819;23318644;23342091;23359189;23370777;23466514;23474107;23490415;23537643;23756768;23850850;23896633;23992351;24166663;24172014;24530312 145264 Q8IW75 ABBA01030414;ABBA01030415;ABBA01030416;AL132708;AL132990;AMYH02029784;AMYH02029785;AX192197;AY177692;AY326420;BC040857;CH471061;NM_173850;XM_005267351 AAH40857;AAO18649;AAP88384;ADQ33048;CAC51316;EAW81578;NP_776249;Q8IW75;XP_005267408 Hs.99476 1782998 SHGC-101638 OL-64 OTTHUMP00000245883;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12;serpin A12;vaspin;visceral adipose tissue-derived serine protease inhibitor;visceral adipose-specific SERPIN protein-coding ENSG00000165953 HGNC:18359 18038 PROVISIONAL 1322836 SERINC2 serine incorporator 2 ENCODES a protein that exhibits L-serine transmembrane transporter activity (inferred); INVOLVED IN L-serine transport (inferred); phosphatidylserine metabolic process (inferred); positive regulation of transferase activity (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; atrazine 1 1 1 p35.1 30143213 30168046 + 31882412 31907527 + 31409565 31434680 + 6480464 12477932;12949800;12975309;14702039;15489334;15815621;19056867;21752829;23455491;23778322;24424505;9872452 347735 Q96IM8;Q96SA4 ABBA01023463;ABBA01023464;ABBA01023465;AC114494;AF116607;AF352325;AK093784;AK127659;AK296118;AK298512;AK308031;AK309409;AK316357;AMYH02000679;AMYH02000680;AY094595;AY358560;BC007375;BC017085;BC063006;BC084580;BC126283;BC126285;BM924335;CH471059;DC363849;NM_001199037;NM_001199038;NM_001199039;NM_018565;NM_178865 AAF71032;AAH07375;AAH17085;AAH84580;AAI26284;AAI26286;AAK83284;AAM22522;AAQ88924;ACT64421;ACT64422;ADR83169;BAG58867;BAH12803;BAH14728;EAX07611;EAX07612;EAX07613;EAX07614;EAX07615;EAX07616;NP_001185966;NP_001185967;NP_001185968;NP_061035;NP_849196;Q96SA4 Hs.270655 1683515;2139380;2166243;2191533;5093320;5112033 A009L24;D1S1701;G32650;G44725;MARC_26102-26103:1032794289:1;RH80390 FKSG84;MGC90340;PRO0899;TDE2;TDE2L OTTHUMP00000003896;OTTHUMP00000003897;tumor differentially expressed 2-like;tumor differentially expressed protein 2;tumor differentially expressed protein 2-like protein-coding ENSG00000168528 HGNC:23231 15481 614549 VALIDATED 1318130 SERINC3 serine incorporator 3 ENCODES a protein that exhibits L-serine transmembrane transporter activity (inferred); INVOLVED IN L-serine transport (inferred); phosphatidylserine metabolic process (inferred); positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (S)-nicotine; asbestos; benzo[a]pyrene diol epoxide I 20 20 20 q13.12 39833511 39859373 - 43124864 43150726 - 44496223 44522085 - 1580863;6480464;8554872 10559794;11780052;12477932;15489334;16547497;17353931;19322201;21297633;21988832;22925353;7566098;8125298;8889548 10955 B4DUE9;Q13530;Q5H936 AA294859;ABBA01052642;ABBA01052643;AF112227;AF153979;AK222923;AK295120;AK300618;AK309993;AMYH02037135;AMYH02037136;BC006088;BU739133;BX456085;CA950523;CB956722;CH471077;NM_006811;NM_198941;U49188;Z97053 AAB48858;AAD22448;AAD34641;AAH06088;ABM84318;ABM87713;BAD96643;BAG58147;BAG62311;EAW75915;EAW75916;NP_006802;NP_945179;Q13530 Hs.272168 1769828;1769838;2161679;2181978 RH16284;RH70652;SHGC-32730;STS-AA025063 AIGP1;DIFF33;SBBI99;TDE;TDE1;TMS-1 OTTHUMP00000031807;placental transmembrane protein (mouse testicular tumor differentially expressed);transmembrane protein SBBI99;tumor differentially expressed 1;tumor differentially expressed protein 1;tumour differentially expressed 1 protein-coding ENSG00000132824 HGNC:11699 06201 607165 VALIDATED 1346137 SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012] 14 14 14 q32.1 75103903 75115619 + 95047706 95059457 + 94581369 94593120 + 1580299;1580863;6480464;6907045;8554872 12139754 10209959;10340997;10391209;10417615;10438718;10805286;11120760;11123896;11161981;11583740;11686324;11722589;11864713;12477932;12575940;12878585;1318261;1372913;14518028;14696115;14702039;14718574;14760718;15014966;15328353;15377716;15489334;15822942;15853774;15878512;16169070;16335952;16344560;1714450;1725227;17258797;17332248;17450526;18184931;18193533;18362344;18974053;19056867;19765701;19913121;20019810;20409682;20628086;21056543;21102419;2172989;2173165;21988832;22205989;22206708;22721676;23520464;23670045;24172014;24222120;24928035;2551064;2556811;2752144;2844223;3027058;3501295;6294098;6323392;7509746;7521127;7525654;8148485;8148499;8381582;8384496;8471250;8536714;8589203;8665956;8713781;8732755;8796266;9016396;9365930;9368023;9473218;9510955;9556620 5104 B3KTV6;B4DDH1;B4DPC7;G3V264;G3V265;G3V2M1;G3V3F5;G3V3Y3;G3V482;G3V4B4;G3V5Q9;P05154 ABBA01030412;AF361796;AI114432;AK096131;AK293192;AK298279;AK310869;AL049839;AL080185;AMYH02029785;BC008915;CH471061;DC394575;HY003178;J02639;M68516;NG_032908;NM_000624;S58545;S69366;U35464 AAA02811;AAA35688;AAB26244;AAB30461;AAB60386;AAH08915;AAK27240;ABM84453;ABM87551;BAG53218;BAG56732;BAG60539;CAB45766;EAW81582;EAW81583;EAW81584;EAW81585;EAW81586;NP_000615;P05154 Hs.159628;Hs.741309 1658719;1674930;1722431;1742875;1742969;1796752;1850674;1855860;2144530;2177506 D14S1340;G60289;GDB:212834;GDB:217872;RH65034;RH68959;RH70612;SERPINA5_1304;SHGC-12750;STS-R07994 PAI-3;PAI3;PCI;PCI-B;PLANH3 OTTHUMP00000244589;OTTHUMP00000244592;OTTHUMP00000244595;PROCI;acrosomal serine protease inhibitor;plasma serine protease inhibitor;plasminogen activator inhibitor 3;plasminogen activator inhibitor III;plasminogen activator inhibitor-3;protein C inhibitor;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5;serpin A5 APPROVED protein-coding ENSG00000188488 HGNC:8723 03503 601841 REVIEWED 1353758 SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008] 14 14 14 q32.1 74824369 74843477 - 94770585 94789688 - 94304248 94323351 - 1580863;6480464;7240710;8554872;8699517 10436419;10474016;10634411;11076863;11161981;11502797;11752456;11893012;12154211;12364459;12477932;12554596;12780753;14760718;14871264;15014966;1504007;15489334;15489336;15554358;15877287;16222046;16335952;16381901;16502470;17245537;17547679;18513745;18636124;19011238;19086053;19172388;19336370;19723618;19913121;20226861;20354921;20379614;20403506;20628086;20716560;20839151;21325280;21558494;21750736;21795453;22072571;22242800;22337907;2240617;2253941;22576823;22747683;22932886;23300763;23750785;24172014;2608068;2612005;2821037;3299377;3347061;3386241;3751467;7172869;7734053;7878688;7912884;8125298;8180202;8212073;8539782;932172;9378466;9383284;9739422 866 G3V350;G3V4V7;P08185 ABBA01030417;AK225591;AK290821;AK313760;AL117259;AMYH02029782;AV689566;BC017462;BC036818;BC056259;BC058021;CH471061;J02943;M31662;NG_011796;NM_001756 AAB59523;AAH56259;AAH58021;BAF83510;BAG36499;CAL37483;CAL37486;CAL38045;CAL38218;EAW81567;EAW81568;NP_001747;P08185 Hs.532635 1667219;1740601;1743955;2117805 D14S1141;GDB:378193;RH17576;SHGC-12744 CBG OTTHUMP00000245861;corticosteroid binding globulin;corticosteroid-binding globulin;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6;serpin A6;transcortin APPROVED protein-coding ENSG00000170099 HGNC:1540 00419 122500;611489 REVIEWED 8548340 SERPINA7P1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 pseudogene 1 X X X 106277347 106277977 - 105806004 105806634 - 106562774 106563404 - 24172014 100422644 ABBA01035793;AL590808;AMYH02040209;NG_026747 pseudo HGNC:44398 INFERRED 1312435 SERPINA9 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); extracellular space (inferred); membrane (inferred); INTERACTS WITH ammonium chloride (ortholog); cadmium sulfate (ortholog); chloroprene (ortholog) 14 14 14 q32.13 74984948 74998549 - 94929058 94942670 - 94462721 94476333 - 6480464;8554872 11069088;12477932;12819018;12975309;15014966;15489334;17447896;17898315;17975119;18550480;18799872;19023099;24172014 327657 Q86WD7 ABBA01030416;AK301082;AL132708;AMYH02029784;AY185496;AY185497;AY220118;AY220119;AY220120;AY220121;AY358700;BC089422;BC111498;CH471061;NM_001042518;NM_001284275;NM_001284276;NM_175739 AAI11499;AAO32345;AAO32346;AAO65242;AAO65243;AAO65244;AAO65245;AAQ89063;BAG62686;EAW81577;NP_001035983;NP_001271204;NP_001271205;NP_783866;Q86WD7 Hs.317970 GCET1;MGC131906;SERPINA11;SERPINA11b OTTHUMP00000236565;OTTHUMP00000236566;OTTHUMP00000236568;OTTHUMP00000236592;OTTHUMP00000236593;OTTHUMP00000236594;centerin;germinal center B cell-expressed transcript 1;germinal center B-cell-expressed transcript 1 protein;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9;serine proteinase inhibitor A11;serpin A9 protein-coding ENSG00000170054 HGNC:15995 11546 615677 VALIDATED 1351148 SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012] X X X q22.2 105751759 105757289 - 105277190 105282718 - 106033199 106038727 - 1600137;1600139;1580863;2312329;2312330;2312332;6480464;7240710;8699517;8554872 1867879;2106883;2505856;6768790;8742570 11061524;11147833;11600582;11889160;11916615;11931635;12477932;12871948;1294376;14718574;1515456;15489334;15772651;16335952;17887925;1901689;1903654;19056867;1906047;1906892;19415532;1943753;20429632;2115061;21325280;2155256;22820390;23458682;23750785;24172014;2495303;2501669;2969453;3094014;414747;7499319;7557975;7951486;8232304;8268226;8530630;9510125;9768672 6906 P05543 ABBA01018872;ABBA01018873;AK310778;AMYH02040196;BC020747;BJ996322;CH471120;L13470;M14091;M31218;NG_021252;NM_000354;T78892;X64171;XM_005262180;XM_006724683;Z83850 AAA16067;AAA60616;AAH20747;ABM82913;ABM86103;CAA45509;EAX02745;EAX02746;EAX02747;EAX02748;NP_000345;P05543;XP_005262237;XP_006724746 Hs.76838 1668776;1702110;1791256;1798144;2140824;2187070;5022804 A007H29;DXS9706;GDB:192500;MARC_8259-8260:996688468:1;SERPINA7;SERPINA7_2610;STS-M14091 FLJ17820;TBG OTTHUMP00000023778;OTTHUMP00000023779;T4-binding globulin;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7;serpin A7;thyroxin-binding globulin;thyroxine-binding globulin APPROVED protein-coding ENSG00000123561 HGNC:11583 02438 314200 REVIEWED 1343168 SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jul 2008] 14 14 14 q32.1 75134849 75146525 + 95078639 95090395 + 94612377 94624053 + 1580109;1580110;1580863;5147410;5147435;5147449;5147441;5147423;5147448;5147458;5147446;5147433;5147434;5147439;6480464;8554872 10849024;11120905;11581179;12126519;12685871;16273852;16649161;17261175;2432615;7562495;8244391;8574716;8620411 10048303;10209959;10228625;10512690;10618372;10660528;10759471;10829039;11096092;11099722;11132933;11161981;11274154;11289720;11290389;11295654;11317942;11385264;11692021;11735417;11769703;11798857;11835318;11916200;11936240;11959399;11992569;12023832;123121;12324297;12475184;12477932;12600202;12709365;12736093;12754519;12782964;1311327;1351206;14668352;14687906;14702039;14718574;14760718;15014966;15131125;15159602;15482730;15489334;15530656;15542006;15546506;15612581;15638460;15653173;15659365;15718509;15907346;15935385;16099106;16137793;1618300;16278826;16303762;16335952;16424370;16453284;16502470;16565071;16712791;16892178;16968986;17207965;17608807;17690329;17854420;18056971;18078695;18248459;18383875;18401426;18408372;18842294;18991685;19008959;19056867;19165527;19247692;19341158;19390575;19525388;19578796;19590686;19789190;19907165;19913121;19933216;19959196;20117085;20158662;2016749;20302328;20378355;20444200;20628086;21067581;21296644;21674799;21693707;21730889;2190106;21988832;22079093;22246292;22272609;22294107;22806587;22869038;23669352;23867815;2404007;24172014;2432851;2435303;2456771;2787670;2945424;3028924;3257719;3260956;3485824;3490907;3492865;3637050;6547997;6556193;6606438;6687683;6762318;7521171;7528097;7588564;7759598;7873202;7924407;7966721;8011628;8216224;8226889;8267879;8365378;8376411;8647626;8718849;8732755;8739078;8836107;8849841;9042371;9261179;9428387;9521649;9580375;9635374;9698370;9824262;9880565 12 G3V3A0;G3V595;G3V5I3;P01011 AB209060;ABBA01030412;AF089747;AK093049;AK096120;AK123091;AL049839;AMYH02029785;AY513275;AY513276;BC003559;BC010530;BC013189;BC034554;BC070265;BG565041;CB111903;CH471061;CS081989;J05176;K01500;M18906;NG_012879;NM_001085;X00947;X68733 AAA51543;AAA51559;AAA51560;AAD08810;AAH03559;AAH10530;AAH13189;AAH34554;AAH70265;AAT08028;AAT08029;ADQ32760;BAD92297;BAG52641;BAG53869;CAA25459;CAA48671;CAI95958;EAW81587;EAW81588;EAW81589;EAW81590;NP_001076;P01011 Hs.534293;Hs.710488 1661288;1680599;1688464;1793760;2109823;2127849;2135665;2176717;2179870 D14S845;G31126;PMC27764P1;RH1625;RH78280;RH79711;RH91507;SERPINA3_7738;SHGC-32982 AACT;ACT;GIG24;GIG25;MGC88254 OTTHUMP00000028439;OTTHUMP00000244599;OTTHUMP00000244601;alpha-1-antichymotrypsin;cell growth-inhibiting gene 24/25 protein;growth-inhibiting protein 24;growth-inhibiting protein 25;serine (or cysteine) proteinase inhibitor, clade A, member 3;serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 3;serpin A3 APPROVED protein-coding ENSG00000196136;ENSG00000273259 HGNC:16 00120 107280 REVIEWED 1314687 SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1 The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 6 6 6 p25 4062686 4071034 - 2832566 2842283 - 2832332 2842049 - 1580863;6480464;6907045 10924364;11747453;12114510;12189154;12477932;12665801;1286667;1376927;14574404;15489334;15952740;16305753;16341674;16502470;16569592;18781797;19056867;19213596;19946248;19946888;20335295;20424473;20485444;20817705;21139048;21248149;21890473;21906983;21963094;21993616;22145905;22268729;22421620;22833565;23002442;23269243;23673989;24105272;24172014;7578269;7654387;8125298;8530031;9630619;9858835 1992 P30740;V9HWH1 ABBA01048627;AF053630;AK223370;AK291327;AK298044;AK304641;AK309765;AK312973;AL139092;AMYH02012987;AW451326;BC009015;BI521531;BM785367;BM823453;BT006928;BU942473;CH471087;EU794624;M93056;NM_030666;NR_073111;NR_073112;XM_006715008 AAC31394;AAH09015;AAP35574;ACJ13678;BAD97090;BAF84016;BAG60342;BAG65420;EAW55089;EAW55090;NP_109591;P30740;XP_006715071 Hs.381167 1744183;1848903;2150621;2158174;5015861;7185938 D10S16;GDB:435254;RH17753;RH35877;SHGC-34164 EI;ELANH2;HEL57;LEI;M/NEI;MNEI;PI-2;PI2 OTTHUMP00000015943;anti-elastase;epididymis luminal protein 57;leukocyte elastase inhibitor;monocyte/neutrophil elastase inhibitor;peptidase inhibitor 2;protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived;serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1;serpin B1 APPROVED protein-coding ENSG00000021355 HGNC:3311 00555 130135 REVIEWED 1345816 SERPINA2 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene) This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation. [provided by RefSeq, Feb 2014] 14 14 14 q32.13 74883597 74894647 - 94830651 94833039 - 94364314 94366702 - 1580863 11161981;12621451;12878320;15014966;15769666;17135331;18519826;21988832;23826168;24172014;2470331;2842251;2901833;8227051 390502 P20848;S4UD68 ABBA01030417;AC235087;AL117259;AL132708;AMYH02029784;DB526949;JX680599;M19684;M19685;NM_006220;NR_110563 AAA51544;AGI62067;NP_006211;P20848 Hs.525557 1646246;1731883 D14S1142;huma1ar2 ARGS;ATR;PIL;SERPINA2P psiATR;putative alpha-1-antitrypsin-related protein;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2;serpin A2;serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2, pseudogene APPROVED protein-coding HGNC:8985 107410 REVIEWED 1348774 SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 PARTICIPATES IN kallikrein-kinin cascade pathway; ASSOCIATED WITH Diabetic Retinopathy; FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 14 14 14 q32.13 75083955 75092415 + 95027779 95036243 + 94561420 94569913 + 1302507;1580289;1580863;6480464;7401223;8554872 16177542;8227002;8950506 10547191;10862973;10991942;11016932;11258665;11341921;12384424;12477932;12734113;12754519;12757180;12810351;1334488;15014966;15489334;16335952;16344560;17714861;17729417;18029348;19056867;19858207;19913121;20509975;20628086;21900206;22710204;23190873;23666756;23750785;24172014;2558505;7474653;7835886;8648266;8853434;9826127;9889257 5267 P29622 ABBA01030412;AI273449;AK309586;AK313196;AL049839;AMYH02029785;BC014992;BX248009;BX248760;CH471061;DA036536;DA637776;L19684;L28101;NM_001289032;NM_001289033;NM_006215 AAA59454;AAC41706;AAH14992;ABM83126;ABM86321;BAG36012;CAD62337;CAD66567;EAW81579;EAW81580;EAW81581;NP_001275961;NP_001275962;NP_006206;P29622 Hs.719893 1700414;1753299;1858024;2119437;2169191 D14S1311;RH103828;RH65904;RH68729;SHGC-81713 KAL;KLST;KST;PI-4;PI4 OTTHUMP00000244583;OTTHUMP00000244584;OTTHUMP00000244585;kallikrein inhibitor;kallistatin;peptidase inhibitor 4;protease inhibitor 4 (kallistatin);serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4;serpin A4 protein-coding ENSG00000100665 HGNC:8948 01004 147935 VALIDATED 1343942 SERPINB12 serpin peptidase inhibitor, clade B (ovalbumin), member 12 ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity; INVOLVED IN hematopoietic progenitor cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); genistein (ortholog) 18 18 18 q21.33 57943890 57954746 + 61223393 61234336 + 63556160 63567103 + 1580863;6480464;8554872 11604408;12477932;19380743;20360068;21139048;21145461;21800051;24163370;24172014;24332808;24457600 89777 Q96P63 ABBA01056223;AC090307;AF411191;AK309754;AMYH02034885;BC103884;BC103885;CH471096;NM_080474;XM_005266778 AAI03885;AAI03886;AAL05571;EAW63149;NP_536722;Q96P63;XP_005266835 Hs.348541 2106595 SERPINB12__5385 MGC119247;MGC119248 OTTHUMP00000163678;OTTHUMP00000180649;YUKOPIN;serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12;serpin B12 protein-coding ENSG00000166634 HGNC:14220 11548 615662 PROVISIONAL 733342 SERPINB10 serpin peptidase inhibitor, clade B (ovalbumin), member 10 The superfamily of high molecular weight serine proteinase inhibitors (serpins) regulate a diverse set of intracellular and extracellular processes such as complement activation, fibrinolysis, coagulation, cellular differentiation, tumor suppression, apoptosis, and cell migration. Serpins are characterized by a well-conserved tertiary structure that consists of 3 beta sheets and 8 or 9 alpha helices (Huber and Carrell, 1989 [PubMed 2690952]). A critical portion of the molecule, the reactive center loop connects beta sheets A and C. Protease inhibitor-10 (PI10; SERPINB10) is a member of the ov-serpin subfamily, which, relative to the archetypal serpin PI1 (MIM 107400), is characterized by a high degree of homology to chicken ovalbumin, lack of N- and C-terminal extensions, absence of a signal peptide, and a serine rather than an asparagine residue at the penultimate position (summary by Bartuski et al., 1997 [PubMed 9268635]).[supplied by OMIM, Jan 2010] 18 18 18 q21.3 58303195 58322926 + 61575224 61602948 + 63915511 63935242 + 1580863;6480464;6907045;8554872 10196205;10871600;12477932;15489334;16172807;20433722;22465717;23602568;24172014;2690952;7592909;9268635 5273 H7BYS2;H7C004;P48595 ABBA01056230;AC009802;AC072051;AK314936;AMYH02034888;BC096217;BC096218;BC096219;BC096220;CH471096;NM_005024;U35459 AAC50282;AAH96217;AAH96218;AAH96219;AAH96220;BAG37442;EAW63162;NP_005015;P48595 Hs.158339 1725145;1730521;1798418;1798482;1800060;1805132;1810504;1812310;1812470;1814878;1817622;1821472;1822538;1826344;1829072;1831292;1834008;1836354;1839370;1841038;1841380;1841578;1843108;1882314;1882316;1882318;1882320;1882322;1882324;1882326;1882328;1882330;1882332;1882334;1882336;1882338;1882340;1882342;1882344;1882346;1882348;1882350;1882352;1882354;1882356;1882358;1882360;1882362;1882364;1882366;1882368;1882370;1882372;1882374;1882376;1882378;1882380;1882382;1882384;1882386;1882388;1882390;1882392;1882394;1882396;1882398;1882400;1882402;1882404;1882406;1882408;1882410;1882412;1882414;1882416;1882418;1882420;1882422;1882424;1882426;1882428;1882430;1882432;1882434;1882436;1882438;1882440;1882442;1882444;1882446;1882448;1882450;1882452;1882454;1882456;1882458;1882460;1882462;1882464;1882466;1882468;1882470;1882472;1882474;1882476;1882478;1882480;1882482;1882484;1882486;1882488;1882490;1882492;1882494;1882496;1882498;1882500;1882502;1882504;1882506;1882508;1882510;1882512;2154922;2200278;2200280;2200282;2200284;2200286;2200288;2200290;2200292;2200294;2200296;2200298;2200300;2200302;2200304;2200306;2200308;2200310;2217954 D18S80;ECD00046;ECD00078;ECD00885;ECD03508;ECD06245;ECD07162;ECD07242;ECD08470;ECD09863;ECD11820;ECD12357;ECD14285;ECD15663;ECD16782;ECD18152;ECD19339;ECD20867;ECD21712;ECD21886;ECD21986;ECD22762;REN11850;REN11851;REN11852;REN11853;REN11854;REN11855;REN11856;REN11857;REN11858;REN11859;REN11860;REN11861;REN11862;REN11863;REN11864;REN11865;REN11866;REN11867;REN11868;REN11869;REN11870;REN11871;REN11872;REN11873;REN11874;REN11875;REN11876;REN11877;REN11878;REN11879;REN11880;REN11881;REN11882;REN11883;REN11884;REN11885;REN11886;REN11887;REN11888;REN11889;REN11890;REN11891;REN11892;REN11893;REN11894;REN11895;REN11896;REN11897;REN11898;REN11899;REN11900;REN11901;REN11902;REN11903;REN11904;REN11905;REN11906;REN11907;REN11908;REN11909;REN11910;REN11911;REN11912;REN11913;REN11914;REN11915;REN11916;REN11917;REN11918;REN11919;REN11920;REN11921;REN11922;REN11923;REN11924;REN11925;REN11926;REN11927;REN11928;REN11929;REN11930;REN11931;REN11932;REN11933;REN11934;REN11935;REN11936;REN11937;REN11938;REN11939;REN11940;REN11941;REN11942;REN11943;REN11944;REN11945;REN11946;REN11947;REN11948;REN11949;RH118875;RH18042;SERPINB10_2979;stSG619537;stSG619538;stSG619539;stSG619540;stSG619541;stSG619542;stSG619543;stSG619544;stSG619545;stSG619546;stSG619547;stSG619548;stSG619549;stSG619550;stSG619551;stSG619552;stSG619553 PI-10;PI10 OTTHUMP00000066999;bomapin;peptidase inhibitor 10;protease inhibitor 10 (ovalbumin type, bomapin);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10;serpin B10 APPROVED protein-coding ENSG00000242550 HGNC:8942 03635 602058 PROVISIONAL 1315147 SERPINB11 serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); extracellular space (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); alachlor (ortholog) 18 18 18 q21.33 58090689 58111621 + 61370194 61391123 + 63702960 63723889 + 1580863;6480464;8554872 12477932;15489334;17207965;17562709;17567994;22289513;22393410;24172014 89778 A9UKE9;B4DKT7;F5GWT8;F5GYW9;Q96P15 ABBA01056224;ABBA01056225;ABBA01056226;AC069356;AF419953;AF419954;AF419955;AK292775;AK296705;AK309537;AK309970;AMYH02034885;AY739645;AY792323;AY792324;AY792325;AY792326;BC069596;BC130370;BC130372;CH471096;DC365081;DC383104;KF459701;NM_001291278;NM_001291279;NM_080475;XM_006722569;XM_006722570 AAH69596;AAL16056;AAL16057;AAL16058;AAU81932;AAV73920;AAV73921;AAV73922;AAV73923;ADQ31989;BAF85464;BAG59299;EAW63158;NP_001278207;NP_001278208;NP_536723;Q96P15;XP_006722632;XP_006722633 Hs.350958 1798562;1800274;1800938;1802566;1814640;1816322;1817620;1818008;1818686;1820364;1820568;1821974;1822118;1822996;1825686;1829716;1831054;1831480;1834366;1841270;1841886;1842876;1845900;1846390;1880486;1880488;1880490;1880492;1880494;1880496;1880498;1880500;1880502;1880504;1880506;1880508;1880510;1880512;1880514;1880516;1880518;1880520;1880522;1880524;1880526;1880528;1880530;1880532;1880534;1880536;1880538;1880540;1880542;1880544;1880546;1880548;1880550;1880552;1880554;1880556;1880558;1880560;1880562;1880564;1880566;1880568;1880570;1880572;1880574;1880576;1880578;1880580;1880582;1880584;1880586;1880588;1880590;1880592;1880594;1880596;1880598;1880600;1880602;1880604;1880606;1880608;1880610;1880612;1880614;1880616;1880618;1880620;1880622;1880624;1880626;1880628;1880630;1880632;1880634;1880636;1880638;1880640;1880642;1880644;1880646;1880648;1880650;1880652;1880654;1880656;1880658;1880660;1880662;1880664;1880666;1880668;1880670;1880672;1880674;1880676;1880678;1880680;1880682;1880684;1880686;2110727;2199986;2199988;2199990;2199992;2199994;2199996;2199998;2200000;2200002;2200004;2200006;2200008;2200010;2200012;2200014;2200016;2200018;2200020 ECD00120;ECD00995;ECD01334;ECD02170;ECD08350;ECD09203;ECD09862;ECD10059;ECD10407;ECD11257;ECD11359;ECD12073;ECD12145;ECD12586;ECD13951;ECD15990;ECD16663;ECD16877;ECD18331;ECD21831;ECD22145;ECD22645;ECD24170;ECD24415;REN10932;REN10933;REN10934;REN10935;REN10936;REN10937;REN10938;REN10939;REN10940;REN10941;REN10942;REN10943;REN10944;REN10945;REN10946;REN10947;REN10948;REN10949;REN10950;REN10951;REN10952;REN10953;REN10954;REN10955;REN10956;REN10957;REN10958;REN10959;REN10960;REN10961;REN10962;REN10963;REN10964;REN10965;REN10966;REN10967;REN10968;REN10969;REN10970;REN10971;REN10972;REN10973;REN10974;REN10975;REN10976;REN10977;REN10978;REN10979;REN10980;REN10981;REN10982;REN10983;REN10984;REN10985;REN10986;REN10987;REN10989;REN10990;REN10992;REN10993;REN10994;REN10995;REN10996;REN10997;REN10998;REN10999;REN11000;REN11001;REN11002;REN11003;REN11004;REN11005;REN11006;REN11007;REN11008;REN11009;REN11010;REN11011;REN11012;REN11013;REN11014;REN11015;REN11016;REN11017;REN11018;REN11019;REN11020;REN11021;REN11022;REN11023;REN11024;REN11025;REN11026;REN11027;REN11028;REN11029;REN11030;REN11031;REN11032;REN11033;REN11034;SERPINB11__6819;stSG619383;stSG619384;stSG619385;stSG619386;stSG619387;stSG619388;stSG619389;stSG619390;stSG619391;stSG619392;stSG619393;stSG619394;stSG619395;stSG619396;stSG619397;stSG619398;stSG619399;stSG619400 MGC163242;MGC163244;SERPIN11 EPIPIN;OTTHUMP00000202800;serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11;serpin B11;serpin peptidase inhibitor, clade B (ovalbumin), member 11 protein-coding ENSG00000206072 HGNC:14221 11547 615682 VALIDATED 1342655 SERPINB2L1 SERPINB2-like 1 5056 HGNC:8585 1351967 SERPINB2L2 SERPINB2-like 2 5057 HGNC:8586 1348161 SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6 The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] 6 6 6 p25 4177451 4201136 - 2948393 2972399 - 2948159 2972165 - 1302731;1580863;6480464;6907045;7240710;8554872;8699517 8415716 10463585;11745444;12107413;12477932;14670919;14702039;15489334;16175637;16341674;17761692;18029348;18781797;18976975;19056867;19380743;19425502;20451170;21139048;21890473;21906983;21963094;22939629;24172014;25027693;7548163;7601482;8136380;8408007;8486644;8636153;8662739;9851866;9858835 5269 P35237 AB209563;ABBA01048622;AF116727;AK027149;AK056729;AK057138;AK094983;AK098566;AK122895;AK122961;AK128637;AK314578;AL133351;AMYH02012989;BC001394;BC098564;BG499326;BI090002;BI259189;BI827451;BM789272;BP325314;BP370484;BQ681973;BX375950;BX538343;CA847860;CD674931;CH471087;CX755337;CX782163;DA847833;HY169891;NG_027692;NM_001195291;NM_001271822;NM_001271823;NM_001271824;NM_001271825;NM_001297699;NM_001297700;NM_004568;XM_005249181;XM_005249183;XM_006715112;XM_006715113;Z22658 AAH01394;AAH98564;AAO15303;ABM86293;ABW03799;BAD92800;BAG37155;CAA80373;CAD98106;EAW55097;EAW55098;EAW55099;EAW55100;EAW55101;EAW55102;EAW55103;EAW55104;EAW55105;EAW55106;NP_001182220;NP_001258751;NP_001258752;NP_001258753;NP_001258754;NP_001284628;NP_001284629;NP_004559;P35237;XP_005249238;XP_005249240;XP_006715175;XP_006715176 Hs.519523;Hs.731506 1705920;2131646;2177468;2186996;5015879;5022578;5037552 D1S1423;D8S2279;GDB:314949;RH68324;RH71006;SGC35714;SHGC-78089 CAP;DFNB91;DKFZp686I04222;MGC111370;MSTP057;PI-6;PI6;PTI;SPI3 OTTHUMP00000017778;OTTHUMP00000017779;OTTHUMP00000017780;OTTHUMP00000017781;OTTHUMP00000017782;OTTHUMP00000017783;cytoplasmic antiproteinase;deafness, autosomal recessive 91;peptidase inhibitor 6;placental thrombin inhibitor;protease inhibitor 6 (placental thrombin inhibitor);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6;serpin B6 APPROVED protein-coding ENSG00000124570 HGNC:8950 01413 173321;613453 REVIEWED 1346118 SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3 ENCODES a protein that exhibits virus receptor activity; INVOLVED IN negative regulation of catalytic activity; negative regulation of peptidase activity; negative regulation of proteolysis; PARTICIPATES IN Entamoeba histolyca infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; nucleus; vesicle; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; cadmium dichloride 18 18 18 q21.3 58042926 58049692 - 61322431 61329259 - 63655197 63661963 - 1580863;6480464;6907045;8554872 10653592;10956412;11267667;12477932;12773976;12820321;12874860;12949073;12975381;14654899;14719077;14970861;14993646;15001834;15489334;15677460;15733534;15902720;15906357;16344560;16549498;16681421;16701102;17353931;17523076;18078639;18155162;18385761;18657489;19056867;19070595;19112206;19190083;19332150;19423540;1958219;19959474;20089382;20212457;20406964;20428762;20438785;20586028;20840788;21139048;21145461;21383048;21526154;21737255;21800051;22079093;2208001;22088515;22359459;22406480;22451727;22563932;22808225;22829702;22999061;23185467;23239141;23349993;23383155;24162160;24172014;24247658;24496037;24550385;24809782;2840187;7724531;8125298;9548757 6317 P29508;Q9BYH9 AB034984;AB046399;ABBA01056223;AC069356;AF428135;AF428136;AF428137;AF428138;AF428139;AF461146;AJ515706;AK222746;AK222753;AK308383;AK310948;AK314805;AMYH02034885;AY190327;AY245778;AY245781;BC005224;BC008483;BT006748;CH471096;DB229922;EU852041;NM_006919;S66896;U19556;U19562;U19568 AAA86316;AAA86317;AAA97552;AAB20405;AAH05224;AAO11731;AAO92269;AAO92272;AAP35394;AAQ04218;AAQ04219;AAQ04220;AAQ04221;AAQ04222;AAQ04770;ABM84648;ABM92177;ACF21012;BAB21524;BAB40772;BAD96466;BAD96473;BAG37332;CAD56658;EAW63156;EAW63157;NP_008850;P29508 Hs.227948 1673566;1719769;1730529;1800430;1800814;1801546;1802926;1807462;1809180;1809182;1809588;1811818;1814938;1821972;1823198;1836304;1838054;1841106;1844876;1879936;1879940;1879942;1879950;1879956;1879958;1879970;1879986;1879988;1879992;1879996;1880002;1880004;1880086;1880088;1880090;1880092;1880094;1880096;1880098;1880100;1880102;1880104;1880106;1880108;1880110;1880112;1880114;1880116;1880118;1880120;1880122;1880124;1880126;1880128;1880130;1880132;1880134;1880136;1880138;1880140;1880142;1880144;1880146;1880148;1880150;1880152;1880154;1880156;1880158;2118109;2135636;2170394;2199922;2199924;2199926;2199936;2199938;2199940;2199942;2199944;2199946;2199948 D18S1028;D18S86;ECD01075;ECD01269;ECD01651;ECD02352;ECD04703;ECD05580;ECD05581;ECD05786;ECD06913;ECD08500;ECD12072;ECD12688;ECD19313;ECD20198;ECD21747;ECD23654;G15930;REN10656;REN10658;REN10659;REN10663;REN10666;REN10667;REN10673;REN10681;REN10682;REN10684;REN10686;REN10689;REN10690;REN10731;REN10732;REN10733;REN10734;REN10735;REN10736;REN10737;REN10738;REN10739;REN10740;REN10741;REN10742;REN10743;REN10744;REN10745;REN10746;REN10747;REN10748;REN10749;REN10750;REN10751;REN10752;REN10753;REN10754;REN10755;REN10756;REN10757;REN10758;REN10759;REN10760;REN10761;REN10762;REN10763;REN10764;REN10765;REN10766;REN10767;RH123576;RH17905;RH71207;stSG619349;stSG619350;stSG619351;stSG619356;stSG619357;stSG619358;stSG619359;stSG619360;stSG619362;stSG619363 HsT1196;SCC;SCCA-1;SCCA-PD;SCCA1;T4-A OTTHUMP00000066804;OTTHUMP00000066805;serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3;serpin B3;squamous cell carcinoma antigen 1 protein-coding ENSG00000057149 HGNC:10569 02745 600517 VALIDATED 69089 SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5 ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity (inferred); INVOLVED IN cellular component movement (inferred); extracellular matrix organization (inferred); morphogenesis of an epithelium (inferred); PARTICIPATES IN p53 signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2,3,7,8-tetrachlorodibenzodioxine 18 18 18 q21.33 57864608 57892790 + 61144144 61172318 + 63476911 63505085 + 1580863;6480464;6907045;8554872 10828881;11751384;11788595;11969337;12037665;12127964;12220518;12231537;12366809;12384513;12425757;12477932;12533266;12629351;12644823;12753703;12786889;12789271;12799381;12964023;12969792;14532972;14534696;14578190;14670180;14716296;14732229;14743202;14761935;14991928;15009909;15145521;15197584;15256060;15309707;15353310;15492782;15501821;15578720;15608662;15620951;15688005;15713631;15731774;15760906;15907209;16007219;16009940;16049006;16049007;16203989;16227634;16304843;16329135;16491398;16540429;16604823;16614520;16633061;16720730;16892558;16936308;16982778;17189399;17203179;17203770;17301947;17446556;17458898;17490717;18029348;18042077;18060631;18091325;18091326;18234645;18236066;18247378;18343598;18367129;18597952;18665036;18698492;18931702;19073519;19090015;19147537;19148518;19221500;19222699;19309490;19462894;19473451;19728335;19906413;19909580;19966016;20075396;20092039;20099971;20105109;20132554;20211623;20334895;20336301;20337574;20346150;20349288;20360068;20363977;20459532;20517662;20697987;20939879;21048031;21069375;21109985;21139048;21187389;21330826;21439064;21502940;21606500;21617230;21622623;21725612;21732742;21800051;21833477;21855619;21856005;21903246;21943228;22011669;22076034;22292406;22684556;22780967;22825520;22857708;22962304;22963136;23079206;23271290;23410722;23717449;23730906;23818344;23922175;23923074;23924927;24002600;24025145;24114705;24172014;24223769;24228118;24242003;24324551;24550385;24772914;25027693;7724531;7797587;8290962;9389773;9433491 5268 C9JLM5;P36952 ABBA01056218;ABBA01056219;ABBA01056220;ABBA01056221;ABBA01056222;AC036176;AK301667;AK312765;AL602439;AMYH02034885;BC020713;BM955647;BX640597;CH471096;CV575332;NM_002639;U04313;XM_006722483 AAA18957;AAH20713;BAG35631;BAG63141;CAE45703;EAW63145;EAW63146;EAW63147;EAW63148;NP_002630;P36952;XP_006722546 Hs.55279 1744179;1744181;1773184;1796754;2167786;5015607;5118412 D11S3014;D11S3270;GDB:435240;GDB:435245;RH17976;SERPINB5_1312;SHGC-12569 PI-5;PI5 OTTHUMP00000180654;maspin;peptidase inhibitor 5;protease inhibitor 5 (maspin);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5;serine (or cysteine) proteinase inhibitor, clade b, member 5;serpin B5 protein-coding ENSG00000206075 HGNC:8949 01111 154790 VALIDATED 1351541 SERPINB8P1 serpin peptidase inhibitor, clade B8 (ovalbumin) pseudogene 1 6 6 6 p25 4278098 4278494 + 3049072 3049468 + 3048838 3049234 + 10644448;19773279;24172014 11029 ABBA01048622;AL031963;AMYH02012992;NG_002645 PI8L1;SERPINB11;SERPINBP1 serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), pseudogene 1 APPROVED pseudo HGNC:8953 INFERRED 1349357 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q32.1 74898987 74912932 - 94843084 94857029 - 94376747 94390692 - 1580863;1643158;1625796;1626391;1643144;1643147;1643148;1643154;1643155;1624236;1641805;1643168;1601202;1643145;1643149;1643164;2324964;4892125;4892128;4892126;2324960;2324975;2324959;4140387;2317811;6480464;6484113;6907045;7240710;5131869;8554872;8699517 10063411;10353322;10569800;11140575;11239198;12488200;12509927;12692006;12770935;15475529;16092147;16752182;17444595;18218118;1836309;1852102;19252908;19738092;19941265;20118217;20298391;20434574;21030517;2323846;7832094 10612848;10651487;10677536;10708851;10716194;1079736;10867014;10933492;11034936;11057674;11131449;11148177;11178897;11199103;11202478;11260148;11295654;11317942;11368345;11427540;11436564;11562937;11744816;11754061;11773044;11785295;11834734;11848724;11862702;11936950;11991955;12009885;12023831;12023832;12083479;12114510;12119297;12223217;12244055;12324297;12368052;12372062;12452840;12460583;12464659;12464660;12477932;12492914;12498804;12514663;12528263;12578879;12608432;12612303;12621451;12626422;12649292;12689922;12754519;12786756;12787886;12796484;12815101;12815594;12860985;12878203;12878320;12890555;12893950;12933574;12934194;1406456;1429867;14523999;14551891;14616761;14639110;14687906;14718574;14760718;14766206;14766207;14968215;15014966;15079023;15084671;15100318;15131125;15266208;15271689;15271889;15342556;15454649;15474273;15489334;15498560;15532029;15612581;15653097;15659365;15674733;15681822;15709777;15775753;15795238;15820772;15820782;15845869;15853774;15927063;15994391;16011217;1602151;16029614;16044402;16099106;16137891;16172282;16175011;16179568;16183649;16192646;16204591;16263699;16278826;16312203;16321984;16335952;16339299;16341674;16344560;16385367;16387939;16449193;16449194;16501672;16502470;16531799;16540089;16581345;16608528;16617455;16622833;16759229;16802007;16819398;16859601;16875754;16887359;16900211;16954950;16979136;17003923;17006922;1702714;17203708;17204961;17207965;17237579;17240615;17258834;17261591;17380188;17573378;17635928;17650587;17654345;17659342;17660256;17688648;17693072;17727818;17855650;17906067;17972336;18028276;18029348;18031952;18060368;18089349;18164971;18258845;18264092;18264947;18283111;18294358;18309698;18340647;18353624;18433707;18495745;18504338;18515255;18519826;18534053;18550704;1859394;18594986;18609127;18624398;18686007;18723439;18725338;18766166;18931508;19010440;19056867;1905728;19073710;19115690;19129321;19180336;19181511;19197072;19251783;19251947;19292870;19306859;19344972;19368725;19398551;19417089;19437508;19515129;19590686;19628210;19657220;1967187;19729499;19747908;19751191;1975477;19763368;19789190;19794310;19815548;19853488;19902353;19913121;19914915;19917667;19944704;19948975;19956452;19961268;20049513;20086110;20108056;20109307;20119870;20150872;20170533;20226649;20228200;20301692;2035534;20360068;20371432;20379614;20425789;20428906;20435667;20463814;20477988;20521180;20558996;20561599;20595457;20628086;20634282;20666480;20667823;20736409;20739079;20811639;20827781;20886426;21060150;21067581;21103663;21134340;21135095;21138453;21138571;21172656;21173712;21199683;21258324;21263074;21273701;21335450;21470421;21477074;21505264;21575917;21670848;21698349;21702661;21727732;21752289;21763297;21786332;21791445;21821620;21832065;21843112;21909096;21925577;21976666;21988832;22008137;22075288;22139150;22162908;22184992;22215832;22274560;2227940;22356581;22363634;22392975;22414631;22544422;2254451;22555971;22590577;22634621;22708402;22723858;22735536;22746289;22793939;22808956;22821488;22841602;22896658;22912729;22916037;22926906;22933512;22971141;22993338;22995909;23017899;23067211;23088986;2309708;23144969;23154425;2316526;23226468;23251618;23258471;23299157;23342621;23356641;23376655;23381957;2339709;23648095;23717456;23750785;23766346;23826168;23829472;23867461;2390072;2394452;23953881;23990791;24011266;24047901;24097797;24122823;24140600;24172014;24213563;24286083;24428606;24449466;24502947;24713750;24760148;2539391;2606478;2610933;2669992;2696185;2784123;2785270;2786335;2787118;2901226;2985281;3257351;3262617;3490426;3491072;3500042;3873938;3876243;59727;6093867;6153632;6191979;6319097;6322161;6332197;6333329;6387509;6604220;6966283;6976274;6979715;6980881;6982267;6983488;7031661;7045697;7523394;7566098;7977369;7980522;8076819;8227051;8358043;8364590;8543039;8756325;8939743;9079644;9459000;9466920;9545340 5265 E9KL23;G3V2B9;G3V387;G3V4I7;G3V544;G3V5R8;P01009 AA317159;ABBA01030417;AC235087;AF119873;AK026174;AK315637;AL132708;AMYH02029784;BC011991;BC015642;BC070163;BG483969;BM844817;BM923322;BP296710;BP300943;BP301274;BT019455;BX161449;BX247968;BX248002;BX248257;BX477352;CD685665;CH471061;DA427262;DA428299;DA433050;DA433058;DA672472;DA675981;DA966896;DQ174461;DQ343612;DQ682455;FJ830375;GU727620;J00064;J00066;J00067;J02619;K01396;K02212;M11465;M26123;NG_008290;NM_000295;NM_001002235;NM_001002236;NM_001127700;NM_001127701;NM_001127702;NM_001127703;NM_001127704;NM_001127705;NM_001127706;NM_001127707;V00496;X01683;X02920;X05826;X05827;X17122 AAA51545;AAA51546;AAA51547;AAB59369;AAB59370;AAB59371;AAB59375;AAB59495;AAF69627;AAH11991;AAH15642;AAV38262;ABA41642;ABC62080;ABG73380;ACO55054;ADQ32725;ADU87622;BAG38005;CAA23755;CAA25838;CAA26677;CAA29267;CAA34982;CAD61914;CAD62306;CAD62334;CAD62585;EAW81570;EAW81571;EAW81572;EAW81573;EAW81574;EAW81575;EAW81576;NP_000286;NP_001002235;NP_001002236;NP_001121172;NP_001121173;NP_001121174;NP_001121175;NP_001121176;NP_001121177;NP_001121178;NP_001121179;P01009 Hs.525557 1664188;1685596;1685598;1722201;1737309;1740973;1741037;1741039;1741065;1741643;1767801;1775590;1777238;1791330;1791332;2158900;2177820;2184250;5015575;5037552;5117266;5119773;5119865 D14S1217;D16S2648;D8S2279;G60004;GDB:177077;GDB:177505;GDB:177506;GDB:177563;GDB:181554;GDB:181604;GDB:185734;GDB:454785;PMC102814P1;PMC102814P2;RH1620;RH1623;RH1712;RH18081;RH68269;SGC32646;SHGC-32639;WIAF-2218;hsa1attr A1A;A1AT;AAT;MGC23330;MGC9222;PI;PI1;PRO2275;alpha1AT OTTHUMP00000197150;OTTHUMP00000197151;OTTHUMP00000197152;OTTHUMP00000197153;OTTHUMP00000197154;OTTHUMP00000245864;alpha-1 protease inhibitor;alpha-1-antiproteinase;alpha-1-antitrypsin;alpha-1-antitrypsin null;protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin;serine (or cysteine) proteinase inhibitor, clade A, member 1;serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 1;serpin A1 APPROVED protein-coding ENSG00000197249 HGNC:8941 02463 107400;606963;613490 REVIEWED 1351173 SERPINB4 serpin peptidase inhibitor, clade B (ovalbumin), member 4 ENCODES a protein that exhibits enzyme binding; INVOLVED IN negative regulation of peptidase activity; PARTICIPATES IN Entamoeba histolyca infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; all-trans-retinoic acid 18 18 18 q21.3 58024988 58031997 - 61304493 61311502 - 63637259 63644268 - 1580863;6480464;6907045;8554872 10653592;10852705;10956412;11267667;12437110;12477932;12702576;12949073;14630915;14970861;15489334;15677460;16211231;16344560;16549498;16820864;17016656;17353931;18097581;19070595;19339807;19615732;19956912;19959474;20428762;21145461;21182205;21338226;21576355;21857942;22406480;22451727;22576068;22808225;22937809;23168150;23199842;23382074;24172014;24560885;7589435;7724531;8889548;9828132;9931463 6318 C9JZ65;F8W9L1;H0Y5H9;P48594 AB005548;AB035089;AB046400;ABBA01056223;AC069356;AF461147;AK292212;AMYH02034885;AY245780;AY245782;BC008399;BC017401;BU676816;CH471096;DB118691;NM_002974;NM_175041;U19557;U19576;X89015 AAA92602;AAA97553;AAH17401;AAO92271;AAO92273;AAQ04771;ABM83720;ABM87040;BAA75462;BAB21525;BAB40773;BAF84901;CAA61420;EAW63154;EAW63155;NP_002965;NP_778206;P48594 Hs.123035 1673566;1719769;1730529;1800430;1800814;1800984;1801546;1807462;1809336;1811818;1823198;1826448;1836304;1838054;1841106;1844876;1879930;1879932;1879934;1879936;1879938;1879940;1879942;1879944;1879946;1879948;1879950;1879952;1879954;1879956;1879958;1879960;1879962;1879964;1879966;1879968;1879970;1879972;1879974;1879976;1879978;1879980;1879982;1879984;1879986;1879988;1879990;1879992;1879994;1879996;1879998;1880000;1880002;1880004;1880006;1880088;1880094;1880130;1880134;1880136;1880138;1880140;1880142;1880144;1880152;1880154;1880158;2135636;2170394;2199914;2199916;2199918;2199920;2199922;2199924;2199926;2199944;2199946 D18S86;ECD01075;ECD01269;ECD01357;ECD01651;ECD04703;ECD05659;ECD06913;ECD12688;ECD14338;ECD19313;ECD20198;ECD21747;ECD23654;G15930;REN10653;REN10654;REN10655;REN10656;REN10657;REN10658;REN10659;REN10660;REN10661;REN10662;REN10663;REN10664;REN10665;REN10666;REN10667;REN10668;REN10669;REN10670;REN10671;REN10672;REN10673;REN10674;REN10675;REN10676;REN10677;REN10678;REN10679;REN10680;REN10681;REN10682;REN10683;REN10684;REN10685;REN10686;REN10687;REN10688;REN10689;REN10690;REN10691;REN10732;REN10735;REN10753;REN10755;REN10756;REN10757;REN10758;REN10759;REN10760;REN10764;REN10765;REN10767;RH123576;RH17905;RH71207;stSG619345;stSG619346;stSG619347;stSG619348;stSG619349;stSG619350;stSG619351;stSG619360;stSG619362 PI-11;PI11;SCCA-2;SCCA1;SCCA2 LEUPIN;OTTHUMP00000066807;OTTHUMP00000066808;OTTHUMP00000066810;SCCA2/SCCA1 fusion protein;peptidase inhibitor 11;protease inhibitor (leucine-serpin);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4;serpin B4;squamous cell carcinoma antigen 1;squamous cell carcinoma antigen 2 protein-coding ENSG00000206073 HGNC:10570 02746 600518 VALIDATED 736732 SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7 This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 18 18 18 q21.33 58140787 58193062 + 61420281 61472610 + 63753047 63805376 + 1580863;6480464;70611;7207378;7207374;7207386;7207366;7207380;7207372;8699517;7240710;8554872 11473647;16443768;16550745;16782060;16796905;18793525;19690890 10589701;11527413;11877466;12386281;12397041;12477932;15213261;15342556;15489334;15788472;16344560;16431886;18471408;18498720;18580857;19403671;20628624;21993616;23383108;24172014;24207119;9182567;9710452 8710 A8K3Q8;C9JA68;C9JM00;C9JZR8;O75635 ABBA01056227;ABBA01056228;AC069356;AC072051;AF027866;AK290673;AK290876;AK300828;AMYH02034886;AMYH02034887;BC069417;BC069442;BC069547;BC106743;BC106744;BP332064;BX641156;CD701612;CD702645;CH471096;D88575;DA577978;KF456427;NG_034150;NM_001040147;NM_001261830;NM_001261831;NM_003784;XM_006722562 AAC64506;AAH69417;AAH69442;AAH69547;AAI06744;AAI06745;BAA31232;BAF83362;BAF83565;BAG62480;CAE46069;EAW63159;NP_001035237;NP_001248759;NP_001248760;NP_003775;O75635;XP_006722625 Hs.138202;Hs.742388 1725065;1731785;1801150;1801656;1802154;1802260;1803366;1803524;1803896;1804508;1805064;1805884;1805964;1806972;1807636;1807780;1808054;1808674;1809708;1809710;1810710;1812818;1813028;1813030;1813552;1815560;1815982;1817100;1817416;1818010;1818826;1819340;1819468;1821546;1821548;1824278;1824896;1829326;1830014;1831056;1834272;1834652;1834654;1835804;1837262;1837470;1840170;1840276;1841378;1842280;1843660;1844400;1845820;1845966;1880920;1880922;1880924;1880926;1880928;1880930;1880932;1880934;1880936;1880938;1880940;1880942;1880944;1880946;1880948;1880950;1880952;1880954;1880956;1880958;1880960;1880962;1880964;1880966;1880968;1880970;1880972;1880974;1880976;1880978;1880980;1880982;1880984;1880986;1880988;1880990;1880992;1880994;1880996;1880998;1881000;1881002;1881004;1881006;1881008;1881010;1881012;1881014;1881016;1881018;1881020;1881022;1881024;1881026;1881028;1881030;1881032;1881034;1881036;1881038;1881040;1881042;1881044;1881046;1881048;1881050;1881052;1881054;1881056;1881058;1881060;1881062;1881064;1881066;1881068;1881070;1881072;1881074;1881076;1881078;1881080;1881082;1881084;1881086;1881088;1881090;1881092;1881094;1881096;1881098;1881100;1881102;1881104;1881106;1881108;1881110;1881112;1881114;1881116;1881118;1881120;1881122;1881124;1881126;1881128;1881130;1881132;1881134;1881136;1881138;1881140;1881142;1881144;1881146;1881148;1881150;1881152;1881154;1881156;1881158;1881160;1881162;1881164;1881166;1881168;1881170;1881172;1881174;1881176;1881178;1881180;1881182;1881184;1881186;1881188;1881190;1881192;1881194;1881196;1881198;1881200;1881202;1881204;1881206;1881208;1881210;1881212;1881214;1881216;1881218;1881220;1881222;1881224;1881226;1881228;1881230;1881232;1881234;1881236;1881238;1881240;1881242;1881244;1881246;1881248;1881250;1881252;1881254;1881256;1881258;1881260;1881262;1881264;1881266;1881268;1881270;1881272;1881274;1881276;1881278;1881280;1881282;1881284;1881286;1881288;1881290;1881292;1881294;1881296;1881298;1881300;1881302;1881304;1881306;1881308;1881310;1881312;1881314;1881316;1881318;1881320;1881322;1881324;1881326;1881328;1881330;1881332;1881334;1881336;1881338;1881340;1881342;1881344;1881346;1881348;1881350;1881352;1881354;1881356;1881358;1881360;1881362;1881364;1881366;1881368;1881370;1881372;1881374;1881376;1881378;1881380;1881382;1881384;1881386;1881388;2125085;2200054;2200056;2200058;2200060;2200062;2200064;2200066;2200068;2200070;2200072;2200074;2200076;2200078;2200080;2200082;2200084;2200086;2200088;2200090;2200092;2200094;2200096;2200098;2200100;2200102;2200104;2200106;2200108;2200110;2200112;2200114;2200116;2200118;2200120;2200122;2200124;2200126 D18S14;D18S42;ECD01447;ECD01707;ECD01959;ECD02014;ECD02580;ECD02663;ECD02861;ECD03183;ECD03474;ECD03895;ECD03935;ECD04451;ECD04790;ECD04864;ECD05005;ECD05319;ECD05846;ECD05847;ECD06350;ECD07422;ECD07533;ECD07534;ECD07799;ECD08816;ECD09031;ECD09599;ECD09758;ECD10060;ECD10477;ECD10737;ECD10801;ECD11859;ECD11860;ECD13237;ECD13547;ECD15794;ECD16140;ECD16664;ECD18284;ECD18474;ECD18475;ECD19063;ECD19798;ECD19902;ECD21269;ECD21322;ECD21885;ECD22343;ECD23041;ECD23414;ECD24129;ECD24203;REN11151;REN11152;REN11153;REN11154;REN11155;REN11156;REN11157;REN11158;REN11159;REN11160;REN11161;REN11162;REN11163;REN11164;REN11165;REN11166;REN11167;REN11168;REN11169;REN11170;REN11171;REN11172;REN11173;REN11174;REN11175;REN11176;REN11177;REN11178;REN11179;REN11180;REN11181;REN11182;REN11183;REN11184;REN11185;REN11186;REN11187;REN11188;REN11189;REN11190;REN11191;REN11192;REN11193;REN11194;REN11195;REN11196;REN11197;REN11198;REN11199;REN11200;REN11201;REN11202;REN11203;REN11204;REN11205;REN11206;REN11207;REN11208;REN11209;REN11210;REN11211;REN11212;REN11213;REN11214;REN11215;REN11216;REN11217;REN11218;REN11219;REN11220;REN11221;REN11222;REN11223;REN11224;REN11225;REN11226;REN11227;REN11228;REN11229;REN11230;REN11231;REN11232;REN11233;REN11234;REN11235;REN11236;REN11237;REN11238;REN11239;REN11240;REN11241;REN11242;REN11243;REN11244;REN11245;REN11246;REN11247;REN11248;REN11249;REN11250;REN11251;REN11252;REN11253;REN11254;REN11255;REN11256;REN11257;REN11258;REN11259;REN11260;REN11261;REN11262;REN11263;REN11264;REN11265;REN11266;REN11267;REN11268;REN11269;REN11270;REN11271;REN11272;REN11273;REN11274;REN11275;REN11276;REN11277;REN11278;REN11279;REN11280;REN11281;REN11282;REN11283;REN11284;REN11285;REN11286;REN11287;REN11288;REN11289;REN11290;REN11291;REN11292;REN11293;REN11294;REN11295;REN11296;REN11297;REN11298;REN11299;REN11300;REN11301;REN11302;REN11303;REN11304;REN11305;REN11306;REN11307;REN11308;REN11309;REN11310;REN11311;REN11312;REN11313;REN11314;REN11315;REN11316;REN11317;REN11318;REN11319;REN11320;REN11321;REN11322;REN11323;REN11324;REN11325;REN11326;REN11327;REN11328;REN11329;REN11330;REN11331;REN11332;REN11333;REN11334;REN11335;REN11336;REN11337;REN11338;REN11339;REN11340;REN11341;REN11342;REN11343;REN11344;REN11345;REN11346;REN11347;REN11348;REN11349;REN11350;REN11351;REN11352;REN11353;REN11354;REN11355;REN11356;REN11357;REN11358;REN11359;REN11360;REN11361;REN11362;REN11363;REN11364;REN11365;REN11366;REN11367;REN11368;REN11369;REN11370;REN11371;REN11372;REN11373;REN11374;REN11375;REN11376;REN11377;REN11378;REN11379;REN11380;REN11381;REN11382;REN11383;REN11384;REN11385;RH118828;stSG619420;stSG619421;stSG619422;stSG619423;stSG619424;stSG619425;stSG619426;stSG619427;stSG619428;stSG619429;stSG619430;stSG619431;stSG619432;stSG619434;stSG619435;stSG619436;stSG619437;stSG619438;stSG619439;stSG619440;stSG619441;stSG619442;stSG619443;stSG619447;stSG619448;stSG619449;stSG619451;stSG619452;stSG619453;stSG619454;stSG619455;stSG619456;stSG619457;stSG619458;stSG619459;stSG619460;stSG619461 DKFZp686D06190;MGC120014;MGC120015;PPKN;TP55 MEGSIN;OTTHUMP00000066995;OTTHUMP00000180650;mesangium predominant gene, megsin;serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7;serpin B7 protein-coding ENSG00000166396 HGNC:13902 04524 603357;615598 REVIEWED 1343432 SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity (inferred); INVOLVED IN blood coagulation (inferred); fibrinolysis (inferred); negative regulation of apoptotic process (inferred); PARTICIPATES IN Entamoeba histolyca infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); extracellular region (inferred); extracellular space (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 18 18 18 q21.3 58275397 58291583 + 61554939 61571124 + 63887705 63903890 + 1580863;6480464;6907045;8554872 10368272;10391209;10393034;10438806;11929770;11949838;12105855;12477932;12578825;12682008;1286667;12883638;12944478;14653443;14732874;15346200;15489334;15500643;15767426;15887231;16113755;16214170;16344560;16397580;16459332;16923810;17141398;17267840;17567994;17657675;17696882;18029348;18472001;18632617;18690354;18977990;19074642;19117638;19238444;19423540;19650060;19690890;19913121;19926580;20205627;20406964;20438785;20494554;20628086;20628624;20800603;20838737;20845058;20974129;21314733;21316840;21477997;21606492;2161846;2166055;21744990;21832049;21976669;22334683;2303256;23188538;23460840;23474086;23527801;23544109;23874603;23874812;23898208;24172014;2471561;2494165;25015289;2799763;2845977;3029122;3257578;3325828;3496414;7499264;7506655;7867722;8152607;8388810;9268635;9780231;9846056;9892694 5055 E7EPJ9;E7ERB5;E9PDK7;P05120 A21238;A21254;A32415;ABBA01056230;AC072051;AK313159;AMYH02034888;BC012609;CD366374;CH471096;DA543366;DQ656059;J02685;J03603;M18082;M23092;M24657;M31546;M31547;M31548;M31549;M31550;M31551;NM_001143818;NM_002575;Y00630 AAA36413;AAA36797;AAA60004;AAA60005;AAA60006;AAA60348;AAH12609;ABM83793;ABM87115;BAG35977;CAA01535;CAA01539;CAA02099;CAA68666;EAW63160;EAW63161;NP_001137290;NP_002566;P05120 Hs.594481 1657813;1710838;1742953;1778965;1800876;1802156;1805804;1808342;1810056;1810638;1811480;1811820;1813992;1819136;1821084;1821746;1826450;1828702;1829570;1831182;1831886;1832272;1834752;1843164;1844974;1882070;1882072;1882074;1882076;1882078;1882080;1882082;1882084;1882086;1882088;1882090;1882092;1882094;1882096;1882098;1882100;1882102;1882104;1882106;1882108;1882110;1882112;1882114;1882116;1882118;1882120;1882122;1882124;1882126;1882128;1882130;1882132;1882134;1882136;1882138;1882140;1882142;1882144;1882146;1882148;1882150;1882152;1882154;1882156;1882158;1882160;1882162;1882164;1882166;1882168;1882170;1882172;1882174;1882176;1882178;1882180;1882182;1882184;1882186;1882188;1882190;1882192;1882194;1882196;1882198;1882200;1882202;1882204;1882206;1882208;1882210;1882212;1882214;1882216;1882218;1882220;1882222;1882224;2142282;2168296;2200240;2200242;2200244;2200246;2200248;2200250;2200252;2200254;2200256;2200258;2200260;2200262;2200264;2200266;5017641 8STS01;D18S1234;D18S1277;ECD01303;ECD01960;ECD03853;ECD05152;ECD06020;ECD06313;ECD06740;ECD06914;ECD08023;ECD10635;ECD11619;ECD11959;ECD14339;ECD15478;ECD15916;ECD16727;ECD17081;ECD17274;ECD18524;ECD22790;ECD23703;GDB:216921;REN11728;REN11729;REN11730;REN11731;REN11732;REN11733;REN11734;REN11735;REN11736;REN11737;REN11738;REN11739;REN11740;REN11741;REN11742;REN11743;REN11744;REN11745;REN11746;REN11747;REN11748;REN11749;REN11750;REN11751;REN11752;REN11753;REN11754;REN11755;REN11756;REN11757;REN11758;REN11759;REN11760;REN11761;REN11762;REN11763;REN11764;REN11765;REN11766;REN11767;REN11768;REN11769;REN11770;REN11771;REN11772;REN11773;REN11774;REN11775;REN11776;REN11777;REN11778;REN11779;REN11780;REN11781;REN11782;REN11783;REN11784;REN11785;REN11786;REN11787;REN11788;REN11789;REN11790;REN11791;REN11792;REN11793;REN11794;REN11795;REN11796;REN11797;REN11798;REN11799;REN11800;REN11801;REN11802;REN11803;REN11804;REN11805;RH17682;SHGC-84187;WI-7061;stSG619518;stSG619519;stSG619520;stSG619521;stSG619522;stSG619523;stSG619524;stSG619525;stSG619526;stSG619527;stSG619528;stSG619529;stSG619530;stSG619531 HsT1201;PAI;PAI-2;PAI2;PLANH2 OTTHUMP00000066997;monocyte Arg-serpin;placental plasminogen activator inhibitor;plasminogen activator inhibitor 2;plasminogen activator inhibitor, type II (arginine-serpin);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2;serpin B2;urokinase inhibitor protein-coding ENSG00000197632 HGNC:8584 01420 173390 VALIDATED 8548223 SERPINB9P1 serpin peptidase inhibitor, clade B (ovalbumin), member 9, pseudogene 1 6 6 6 p25.2 4083846 4105690 - 2854891 2876744 - 2854657 2876510 - 12477932;20379614;24172014 221756 ABBA01048624;ABBA01048625;ABBA01048626;AL133351;AL139092;AMYH02012987;AMYH02012988;AMYH02012989;BC025340;CH471087;KF458076;NR_033851 AAH25340;ABM83589;ABM86833;EAW55092 Hs.8162 SERPINB9P pseudo HGNC:28590 VALIDATED 1312230 SERPINB13 serpin peptidase inhibitor, clade B (ovalbumin), member 13 INVOLVED IN response to UV (inferred); PARTICIPATES IN Entamoeba histolyca infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; calcitriol; cobalt dichloride 18 18 18 q21.33 57975029 57986928 + 61254431 61266433 + 63587300 63599199 + 1580863;6480464;6907045;8554872 10512713;10527881;11004515;11313015;12477932;12504904;12809493;15489334;15885077;16357159;16433682;19056867;19569240;19690890;21723253;22593614;24172014;9297979 5275 C9JL93;F8WE70;H7BZS9;Q9UIV8 ABBA01056223;AC090307;AF169949;AF216854;AJ001696;AJ001697;AJ001698;AJ278717;AK290323;AK296797;AK298049;AK303867;AK303979;AK313486;AL050177;AMYH02034885;BC101821;BC143402;CH471096;DC346089;NM_012397;X98307;XM_005266705;XM_005266707 AAD55765;AAF72879;AAI01822;AAI43403;BAF83012;BAG36269;BAH12433;BAH12713;BAH14070;BAH14090;CAA04935;CAA04936;CAA04937;CAA66951;CAC03569;EAW63150;EAW63151;EAW63152;EAW63153;NP_036529;Q9UIV8;XP_005266762;XP_005266764 Hs.241407 1659335;1755069;1799360;1800712;1809268;1833538;1879566;1879568;1879570;1879572;1879574;1879576;1879578;1879580;1879582;1879584;1879586;1879588;1879590;1879592;1879594;1879596;1879598;1879600;1879602;1879604;1879606;1879608;1879610;1879612;1879614;2199880;2199882;2199884;2199886 ECD00529;ECD01217;ECD05624;ECD17912;REN10471;REN10472;REN10473;REN10474;REN10475;REN10476;REN10477;REN10478;REN10479;REN10480;REN10481;REN10482;REN10483;REN10484;REN10485;REN10486;REN10487;REN10488;REN10489;REN10490;REN10491;REN10492;REN10493;REN10494;REN10495;RH47046;SHGC-142006;stSG619324;stSG619325;stSG619326;stSG619327 HSHUR7SEQ;HUR7;MGC126870;PI-13;PI13 HURPIN;OTTHUMP00000066811;UV-B repressed sequence, HUR 7;haCaT UV-repressible serpin;headpin;peptidase inhibitor 13;protease inhibitor 13 (hurpin, headpin);proteinase inhibitor 13;serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13;serpin B13 protein-coding ENSG00000197641 HGNC:8944 05118 604445 VALIDATED 1318666 SERPINB9 serpin peptidase inhibitor, clade B (ovalbumin), member 9 This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012] 6 6 6 p25 4116448 4132549 - 2887499 2903546 - 2887265 2903312 - 1580863;6480464;6907045 10477277;10681578;10790428;11207275;11463822;11485349;11719590;11856484;12036886;12477932;12517944;15146197;15458434;15489334;15494398;15531453;15739160;16130169;16144945;16169070;16267761;16306080;16310039;17077322;17237823;17479112;18191723;18669594;19946888;19956856;21139048;21296596;21319273;21795594;21906983;21919028;22090449;22167597;22387007;23463506;23892923;24172014;8530382;8910377;8938458;9858835 5272 P50453;Q6N0A8 AB060690;ABBA01048624;AK314842;AL133351;AMYH02012989;BC002538;BT006673;BX485378;BX640606;CH471087;CN255302;CR407627;L40378;NM_004155;U71364;XM_005249184 AAC41940;AAC50793;AAH02538;AAP35319;ABM81700;ABM84860;BAB91078;BAG37360;CAE45712;CAG28555;EAW55093;EAW55094;EAW55095;NP_004146;P50453;XP_005249241 Hs.104879 1684441;1701646;2165920;5014051;5015404;5015619;5022200;5022651;5024413;5037552 D11S2921;D11S3114;D8S2278;D8S2279;L17705;L17877;L18426;RH104467;RH48376;RH75915 CAP-3;CAP3;PI-9;PI9 OTTHUMP00000015954;cytoplasmic antiproteinase 3;peptidase inhibitor 9;protease inhibitor 9 (ovalbumin type);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9;serpin B9;serpin peptidase inhibitor, clade B, member 9 APPROVED protein-coding ENSG00000170542 HGNC:8955 03480 601799 REVIEWED 2301110 SERPINE3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 FOUND IN extracellular space (inferred) 13 13 13 q14.3 32964335 32985406 + 51915168 51939555 + 51341032 51362103 + 15057823;24172014 647174 A8MV23;E5RG55 ABBA01051048;AL137780;AM402969;AMYH02028030;AMYH02028031;AX772926;CH471075;NM_001101320 A8MV23;CAE06272;CAL47031;EAX08871;EAX08872;NP_001094790 Hs.685891 2114202 RH66764 OTTHUMP00000228212;OTTHUMP00000228214;nexin-related serine protease inhibitor;serpin E3 protein-coding ENSG00000253309 HGNC:24774 VALIDATED 8548318 SERPINE4P serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 4 pseudogene q12 24172014 101930745 AC145436;NG_033925 pseudo HGNC:44400 INFERRED 732320 SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 The product encoded by this gene is a serine proteinase inhibitor which rapidly inhibits thrombin in the presence of dermatan sulfate or heparin. The gene contains five exons and four introns. This protein shares homology with antithrombin III and other members of the alpha 1-antitrypsin superfamily. Mutations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 4619743 4633367 + 21128383 21142008 + 20774095 20787720 + 1580300;1580301;1580303;1580304;1580863;6480464;6907045;7240710;8554872;8699517 10583218;12361205;8562924;8624776 10391209;11323006;11846800;11856753;12095635;12152684;12169660;12477932;14718574;15247982;15292227;15337701;15342556;15461802;15543340;16335952;16339402;1671335;16981704;1836773;18383370;18971786;1939083;19747479;1985958;19913121;19953087;20053992;20628086;20671370;2104620;21107326;21832049;22904320;2318847;23656734;24172014;2552799;2647747;2760054;2841345;2894851;3003690;3379101;3755044;3782093;3907702;7545318;8125298 3053 P05546;Q8IVC0 ABBA01015445;AC007308;AK225292;AK314200;AMYH02038079;AMYH02038080;BC035028;BP237845;CH471176;CR456573;KF457363;M12849;M33660;M58600;NG_012076;NG_033052;NM_000185;X03498;XM_005261597 AAA36185;AAA52641;AAA52642;AAH35028;ABM82129;ABM85312;BAG36878;CAA27218;CAG30459;CAK54603;CAK54902;EAX02941;EAX02942;NP_000176;P05546;XP_005261654 Hs.474270 1686943;1769423;1857929;2128659;2169579 D22S1026;D22S1540;RH27825;STS-M12849;WI-7024 D22S673;HC2;HCF2;HCII;HLS2;LS2;THPH10 OTTHUMP00000198450;OTTHUMP00000198451;heparin cofactor 2;leuserpin 2;leuserpin-2;protease inhibitor leuserpin-2;serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1;serpin D1 APPROVED protein-coding ENSG00000099937 HGNC:4838 00795 142360;612356 REVIEWED 70076 SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 2 2 2 q36.1 218605681 218669944 - 224839765 224904036 - 223975048 224039319 - 1580863;2317927;729767;2317936;2317937;6480464 12524238;18442833;2813392;8261109 11827452;11925594;12106474;12356769;12477932;12859287;1334458;15340161;15489334;16015279;16085935;16344560;16358219;16741952;1691280;16921128;17379830;17446335;17690329;17703087;17934860;18550614;18617644;19017876;19111454;19249338;19322201;1939253;19439404;19584287;19604412;19626039;19789190;19855083;19911255;19949669;20035713;20233420;20298363;2037625;20463177;20525719;20623540;20805453;20819545;20881960;20942929;21067581;21403095;21426587;21436250;21611750;21806836;22028159;22145704;22331468;22618708;22863883;23041623;23385179;23648065;23661674;24023701;24172014;2877744;3279057;3427015;3997857;7665170;8006028;8125298;9184208 5270 C9JN98;C9JRK5;C9K031;P07093 A03911;ABBA01023779;AC073641;AI754402;AJ293400;AK225823;AK295564;AK297588;AK312499;AMYH02005883;AMYH02005884;BC015663;BC042628;BX360097;BX647459;CH471063;CR746616;DB325994;DC304261;DC366668;M17783;NG_032907;NM_001136528;NM_001136530;NM_006216;NR_073116;XM_005246641;XM_005246642 AAA35883;AAH15663;AAH42628;AAY14926;ABM84117;ABM84610;ABM84611;ABM87515;ABM87861;ABM87862;BAG35401;BAG58464;BAG59975;CAA00310;EAW70821;EAW70822;EAW70823;EAW70824;NP_001130000;NP_001130002;NP_006207;P07093;XP_005246698;XP_005246699 Hs.38449;Hs.708453 1655515;1798146;2148369;2149859;2155581;2180355 D2S2574;G31099;RH16314;RH47841;SERPINE2_1428;SHGC-34895 DKFZp686A13110;GDN;GDNPF;PI-7;PI7;PN-1;PN1;PNI OTTHUMP00000164215;OTTHUMP00000203766;OTTHUMP00000203767;OTTHUMP00000203768;glia-derived nexin;glial-derived neurite promoting factor;peptidase inhibitor 7;protease nexin 1;protease nexin I;serine (or cysteine) proteinase inhibitor, clade e (nexin, plasminogen activator inhibitor type 1), member 2;serpin E2 APPROVED protein-coding ENSG00000135919 HGNC:8951 01510 177010 REVIEWED 1320387 SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8 The superfamily of high molecular weight serine proteinase inhibitors (serpins) regulate a diverse set of intracellular and extracellular processes such as complement activation, fibrinolysis, coagulation, cellular differentiation, tumor suppression, apoptosis, and cell migration. Serpins are characterized by well-conserved a tertiary structure that consists of 3 beta sheets and 8 or 9 alpha helices (Huber and Carrell, 1989 [PubMed 2690952]). A critical portion of the molecule, the reactive center loop connects beta sheets A and C. Protease inhibitor-8 (PI8; SERPINB8) is a member of the ov-serpin subfamily, which, relative to the archetypal serpin PI1 (MIM 107400), is characterized by a high degree of homology to chicken ovalbumin, lack of N- and C-terminal extensions, absence of a signal peptide, and a serine rather than an asparagine residue at the penultimate position (summary by Bartuski et al., 1997 [PubMed 9268635]).[supplied by OMIM, Jan 2010] 18 18 18 q22.1 58357699 58377053 + 61637263 61656608 + 63970028 63989374 + 1580863;6480464 12417609;12477932;15231068;16493485;17207965;17567994;17975119;19023099;19188865;20379614;20953187;21906983;22837378;22939629;24172014;25027693;2690952;8530382;8761950;9268635;9402754;9417904;9442015 5271 C9JTJ8;C9JVA8;H7BXK7;P50452 ABBA01056230;AC009802;AK300391;AK313782;AL708543;AMYH02034888;BC034528;BE566411;BG611734;BQ435307;BX280409;BX571754;CA445967;CH471096;DC384755;DQ656055;L40377;NM_001031848;NM_001276490;NM_002640;NM_198833;U92984;XM_006722484 AAC41939;AAH34528;ACE86686;ACE87370;ADQ31588;BAG36520;BAG62124;CAE11879;EAW63163;EAW63164;EAW63165;NP_001027018;NP_001263419;NP_002631;NP_942130;P50452;XP_006722547 Hs.368077 1806474;1806900;1814374;1815018;1815984;1816574;1817624;1817948;1819270;1820624;1820810;1821220;1822922;1822998;1824592;1829480;1834574;1834834;1835220;1836424;1836768;1839544;1882764;1882766;1882768;1882770;1882772;1882774;1882776;1882778;1882780;1882782;1882784;1882786;1882788;1882790;1882792;1882794;1882796;1882798;1882800;1882802;1882804;1882806;1882808;1882810;1882812;1882814;1882816;1882818;1882820;1882822;1882824;1882826;1882828;1882830;1882832;1882834;1882836;1882838;1882840;1882842;1882844;1882846;1882848;1882850;1882852;1882854;1882856;1882858;1882860;1882862;1882864;1882866;1882868;1882870;1882872;1882874;1882876;1882878;1882880;1882882;1882884;1882886;1882888;1882890;1882892;1882894;1882896;1882898;1882900;1882902;1882904;1882906;1882908;1882910;1882912;1882914;1882916;1882918;1882920;1882922;1882924;1882926;1882928;1882930;1882932;1882934;1882936;1882938;1882940;2146058;2200354;2200356;2200358;2200360;2200362;2200364;2200366;2200368;2200370;2200372;2200374;2200376;2200378;2200380;2200382 ECD04193;ECD04415;ECD08216;ECD08540;ECD09032;ECD09329;ECD09864;ECD10029;ECD10702;ECD11387;ECD11480;ECD11687;ECD12549;ECD12587;ECD13394;ECD15871;ECD18435;ECD18566;ECD18765;ECD19374;ECD19548;ECD20954;REN12075;REN12076;REN12077;REN12078;REN12079;REN12080;REN12081;REN12082;REN12083;REN12084;REN12085;REN12086;REN12087;REN12088;REN12089;REN12090;REN12091;REN12092;REN12093;REN12094;REN12095;REN12096;REN12097;REN12098;REN12099;REN12100;REN12101;REN12102;REN12103;REN12104;REN12105;REN12106;REN12107;REN12108;REN12109;REN12110;REN12111;REN12112;REN12113;REN12114;REN12115;REN12116;REN12117;REN12118;REN12119;REN12120;REN12121;REN12122;REN12123;REN12124;REN12125;REN12126;REN12127;REN12128;REN12129;REN12130;REN12131;REN12132;REN12133;REN12134;REN12135;REN12136;REN12137;REN12138;REN12139;REN12140;REN12141;REN12142;REN12143;REN12144;REN12145;REN12146;REN12147;REN12148;REN12149;REN12150;REN12151;REN12152;REN12153;REN12154;REN12155;REN12156;REN12157;REN12158;REN12159;REN12160;REN12161;REN12162;REN12163;RH17652;stSG619578;stSG619579;stSG619580;stSG619581;stSG619582;stSG619583;stSG619584;stSG619585;stSG619586;stSG619587;stSG619588;stSG619589;stSG619590;stSG619591;stSG619592 CAP2;PI-8;PI8 OTTHUMP00000067000;OTTHUMP00000067001;OTTHUMP00000067002;OTTHUMP00000180653;cytoplasmic antiproteinase 2;peptidase inhibitor 8;protease inhibitor 8 (ovalbumin type);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8;serpin B8 APPROVED protein-coding ENSG00000166401 HGNC:8952 03412 601697 VALIDATED 1315455 SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 17 p13 1661914 1674664 + 1646015 1658562 + 1742721 1755265 + 1580302;1580303;1580304;1625535;1625530;1625532;1625537;1625538;1625531;1625536;1580863;1625529;1625533;1625534;6480464;6907045;7240710;8554872;8699517 10423332;10583218;12595617;12911586;1334334;1384011;15771120;2313941;6121140;8624776;9184412;9207984;9361364 10570951;10671537;10958788;10963790;11074138;11604408;12080056;12477932;12549929;12621583;12878203;134998;1385210;14687906;14718574;14751930;1577485;158022;15853774;16335952;16828203;17203182;17317851;17388801;17883703;17890952;17958745;17961166;18029348;18048863;18550704;19073825;19492163;19691486;19913121;20071328;20112045;20553378;20628086;20705733;21075;21251197;21471521;21486949;21505192;21543325;21707521;21988832;22205503;23022100;23750785;23992406;24068962;24172014;2433286;2434496;2437112;2440681;2456616;2572590;2830248;2958938;3166140;3334852;3416655;3818581;6980881;7095605;7306699;7873202;8484741;8611456;8647939;8703832;8889548;9042371;9169621;9368023;9428387 5345 C9JMH6;C9JPV4;P08697 ABBA01054672;ABBA01054673;ABBA01054674;AC130343;AC206360;AK303763;AL564784;AMYH02032751;BC031592;BX107460;CH471108;CK300825;D00116;D00174;J02654;M20786;NG_013215;NM_000934;NM_001165920;NM_001165921;XM_005256698;XM_005256699;XM_005256700;XM_005256701;XM_005256703;XM_006725255 AAA35543;AAA51554;AAH31592;ABM81722;ABM84877;BAA00070;BAA00124;BAG64729;EAW90578;EAW90579;EAW90580;EAW90581;NP_000925;NP_001159392;NP_001159393;P08697;XP_005256755;XP_005256756;XP_005256757;XP_005256758;XP_005256760;XP_006725318 Hs.159509 1657134;1741011;2119567;2123762 D17S2100;GDB:177369;RH68851;STS-T52007 A2AP;AAP;ALPHA-2-PI;API;PLI OTTHUMP00000115656;OTTHUMP00000197008;OTTHUMP00000197009;alpha-2-AP;alpha-2-antiplasmin;alpha-2-plasmin inhibitor;serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2;serpin F2 APPROVED protein-coding ENSG00000167711 HGNC:9075 02029 262850;613168 REVIEWED 1351755 SERPINH1P1 serpin peptidase inhibitor, clade H1, pseudogene 1 9 9 9 p13.3 34249790 34251855 + 34318264 34320329 + 34318266 34320331 + 737815 10023073 24172014 158172 AB010273;ABBA01065014;AL353662;AMYH02019444;NG_006020 1857685;2144788 A002P11;D11S4351 SERPINHP1;bA571F15.6;pshsp47 APPROVED pseudo HGNC:19917 INFERRED 1342519 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 The protein encoded by this gene is a member of the serpin family, although it does not display the serine protease inhibitory activity shown by many of the other serpin family members. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells.[provided by RefSeq, Mar 2011] 17 17 17 p13.3 1681796 1697412 + 1665259 1680859 + 1761965 1777565 + 1580135;1580863;2312346;2312337;2312345;2312347;2312353;2312354;2312342;2312349;2312338;2312339;2312340;2312341;2312355;2312356;2312344;2312348;5490120;6480464;8554902;1580133;8554893;1359799;8655546;8554866;8554870;8554878;8554881;8554888;8554889;8554891;8554892;8593319;8612994;8613878;8618841;8635395;8642993;8655540;8655541;8655545;8655558;8655563;8590225;8655557;8554890;8554896;8655561;8655544;8655555;8554875;8554895;8622925;8655542;8554884;7241556;8554865;8554867;8554903;8633656;8554869;8554886;8554887;8638001;8554871;8655539;8633067;8554883;8554900;8554901;8699517;7240710;8554872 10441236;10600408;11424092;11723044;11867604;11916948;12067231;12957143;15059706;15312607;15313905;15616035;16019000;16054135;16368716;16490490;16731830;16797605;16822505;16863836;16973658;17073149;17458711;17479108;17491674;17525281;17653050;17658465;17692294;17709187;17850801;17971181;18025835;18322021;18331686;18455830;18523656;18624913;18715664;18837062;18996124;19073347;19237211;19365032;19553628;19596319;19832843;19850839;20142768;20360944;20714746;21139695;21191149;21275514;21281801;21487926;21738387;22024088;22300381;22714093;22714715;22975116;23295464;23466670;23793989;23884140;24288442;24424059;24530621 10398599;10398730;10531367;11438800;11562499;12200129;12237317;12477932;12599204;12603315;12621583;12670505;12687338;12711260;12737624;12827055;12837042;12860293;12878936;12920663;14991838;15096582;15140209;15150108;15239109;15374885;15377265;15489334;15713745;15846509;15856012;15994443;16102727;16196102;16289162;16322471;16335952;16409998;16596284;16707486;16740777;16777976;16896539;17032652;17081065;17188371;17202143;17213275;17593873;17604022;17651710;17870167;18029348;18084848;18180304;18191271;18226801;18312852;18625531;18676622;18677713;18704312;18787046;18787502;18792873;18805795;18845835;19056867;19091957;19180572;19182495;19223990;19224861;19247457;19253105;19298519;19342598;19503741;19513563;19583952;19608741;19635565;19637042;19661223;19913121;19948828;19953087;20087951;20104255;20132989;20141354;20228934;20229034;20237999;20381502;20412062;20504225;20628086;20631025;20664971;20678803;20685859;20705733;20706999;20709803;20857208;21058962;21059648;21067572;21122834;21139048;21152082;21174599;21209034;21211310;21236558;21292512;21323605;21330424;21336718;21353196;21570865;21652703;21673604;21697133;21697716;21777264;21826736;21846721;21851923;21947986;22028839;22029535;22051848;22113968;22115973;22120651;22215693;22218393;22234980;22315956;22457728;22457810;22547925;22570532;22669302;22701300;22792709;22819570;22827961;22837306;22884488;22915824;22917444;22930782;23038613;23055574;23075882;23123582;23218576;23318725;23346798;23393224;23547472;23547730;23553951;23569025;23600479;23722394;23818523;23924722;24078214;24105071;24161393;24172014;24255038;24342618;24361362;24760990;7566098;7592790;8188257;8226833;8434014;8473338;8889548;8977492;9238088;9692954 5176 I3L107;I3L1U4;I3L2R7;I3L3Z3;I3L425;I3L4F9;I3L4N7;I3L4Z0;P36955 AA351026;AA658568;AB593011;AB593012;AB593013;ABBA01054676;ABBA01054677;AC130343;AC130689;AF400442;AK315344;AMYH02032751;AY513280;BC000522;BC013984;BM981180;BQ773314;BT007222;BU154385;CA405781;CH471108;M76979;M90439;NG_028180;NM_002615;U29953;W22661 AAA60058;AAA84914;AAA93524;AAH00522;AAH13984;AAK92491;AAP35886;AAT08033;ADZ15741;BAJ83966;BAJ83967;BAJ83968;EAW90577;NP_002606;P36955 Hs.532768 1648678;1734472;1736700;5097051 D17S1434E;D17S1518E;G61999;SGC31677 EPC-1;OI12;OI6;PEDF;PIG35 OTTHUMP00000115682;cell proliferation-inducing gene 35 protein;pigment epithelium-derived factor;proliferation-inducing protein 35;serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1;serpin F1 APPROVED protein-coding ENSG00000132386 HGNC:8824 01408 172860;613982 REVIEWED 731505 SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 3 3 3 q26.1 165851868 165941800 + 167453432 167543357 + 167735229 167825569 + 1580863;6480464;7240710;8554872;8699517 10517635;10992299;11880376;12103288;12228252;12354288;12477932;14983220;15090543;15269833;15291813;15489334;15664988;16344560;16849336;17212813;17606885;17961231;18029348;18051703;18391951;18591508;19222708;19265707;19423540;19423713;20406964;20438785;20691191;21081089;21174006;21487809;21507957;21569344;21961602;23534349;24036060;24172014;24795221;9070919;9407089 5274 C9JDY5;C9JQU8;H7C5T9;Q99574 ABBA01058725;AC026353;AC079822;AF248246;AK290082;AMYH02008083;BC018043;BQ086144;CH471052;CR627434;CS208019;DA270615;DA359846;HB867204;NG_008217;NM_001122752;NM_005025;XM_006713657;Z81326 AAG01089;AAH18043;BAF82771;CAB03626;CAH10520;CAJ44935;CBF57588;EAW78571;EAW78572;EAW78573;NP_001116224;NP_005016;Q99574;XP_006713720 Hs.478153 1725293;2115013;2184499 RH118964;SGC32223;STS-N47859 DKFZp781N13156;PI-12;PI12 OTTHUMP00000212948;OTTHUMP00000212949;neuroserpin;peptidase inhibitor 12;serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1;serpin I1 APPROVED protein-coding ENSG00000163536 HGNC:8943 03901 602445;604218 REVIEWED 1344082 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54721543 54738843 + 57365027 57382326 + 57597554 57614853 + 1302854;1600545;1580863;6480464;6907045;7240710;7401223;8554872;8661648;8661640;8661643;1580273;8661646;8661647;8699517;8661638;8661264;8661649;8661260;8661263;6484131;6903314;8661653;8661651;8661639;8661265;8661641;8661644;8661645;8661650 10360224;10446335;11685347;12402344;12773530;15356570;16177542;16367929;16942749;17538891;18652771;19169411;20576771;20606025;21526158;21779364;21852020;22447201;22800873;23991040;24494798;8172580;9176084;9377162 10570951;10946292;11437612;11460008;11527969;11933207;12123444;12421980;12477932;12492481;12539042;12754519;1339401;1363816;1451784;14568956;14635117;14718574;14760718;15096536;15174051;1531292;15325085;15489334;15583734;15596402;15596403;15607116;15879149;15971231;16335952;16409206;16470590;16502470;16617246;1684567;17230419;17488724;17498209;17502473;17521609;17709141;17908769;17916775;17976427;18022239;18035804;18535392;18586324;18758157;18842294;1885769;19056867;19201015;19344414;19423540;19607829;19706314;19752569;19925520;20016407;20024535;20062564;20120775;20161815;20237496;2026152;20306692;20351192;20406964;20438785;20532227;20628624;20736409;20800603;20804470;2118657;21345278;2154751;21623829;21695123;21864911;21988832;22001489;22014012;22078245;22230421;22276768;22456031;22456345;22831796;22882460;2296585;22994404;23123409;2323781;23251661;23265861;23318225;23383108;23399388;23437219;23583915;23607270;2365061;23688413;23966370;24172014;24262729;24412907;24456027;24468257;24565773;2478116;2563376;2723063;3089875;3178731;3267220;3295045;3393514;3458172;3488058;3587308;3756141;3965505;6282262;6416294;6604523;6980881;7586269;7749926;7814636;7883978;8172583;8529136;8755917;9234243;9882449 710 B5MCB9;C9JZJ9;E9KL26;E9PGN7;E9PK97;H0YCA1;H9KV48;P05155 AB209826;ABBA01021474;AF435921;AK293054;AK303809;AK303840;AK312626;AL703442;AMYH02024844;AP000662;AP002893;AY732485;AY732486;AY904027;BC011171;BQ183346;BT006966;CH471076;GU727623;M13203;M13656;M13690;M14036;M30688;NG_009625;NM_000062;NM_001032295;S76944;X07427;X07577;X54486 AAA35613;AAA51848;AAA51849;AAA53096;AAB33044;AAB59387;AAH11171;AAM21515;AAP35612;AAV33124;AAV33125;AAW69393;ABM82725;ABM85908;ADU87625;BAD93063;BAF85743;BAG35512;BAG64762;BAG64784;CAA30314;CAA30469;CAA38358;EAW73762;EAW73763;EAW73764;NP_000053;NP_001027466;P05155 Hs.384598 1657289;1673224;1725767;1742499;1748469;2138107;2138671;2217956 C1NH;D11S3986;G62069;GDB:197595;RH11451;SERPING1_2664;SHGC-6014;STS-X54486 C1IN;C1INH;C1NH;HAE1;HAE2 C1 esterase inhibitor;C1-inhibiting factor;OTTHUMP00000197003;OTTHUMP00000197004;OTTHUMP00000197007;OTTHUMP00000235286;OTTHUMP00000235287;complement component 1 inhibitor;plasma protease C1 inhibitor;serine (or cysteine) proteinase inhibitor, clade g (c1 inhibitor), member 1, (angioedema, hereditary);serine/cysteine proteinase inhibitor clade G member 1;serpin G1;serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) APPROVED protein-coding ENSG00000149131 HGNC:1228 06033 106100;120790;606860 REVIEWED 732731 SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011] 11 11 11 q13.5 72580950 72591621 + 75273101 75283849 + 75562056 75572804 + 1580863;737815;6480464;7240710;8699517;8554872 10023073 10227388;10506936;10862616;11052465;11106745;11162551;11500849;11572868;11581402;11748222;11994473;12061838;12145293;12163502;12174873;12475206;12477932;12659832;12824005;1309665;14702039;15047128;15225209;15247019;15308636;15389525;15489334;15635413;15806139;15955241;16169070;16171977;16326708;16396496;16484215;16712791;16938879;17546044;17977830;18029348;18093617;18095990;18205191;18293509;18781797;18818748;19019335;19067716;19322201;19341245;19527514;19531213;19578754;19603022;20043075;20112500;20701077;20881960;21139048;21150319;21182205;21187648;21319273;21565611;21853274;21890473;21900206;21906983;21963094;21987572;22021425;22053931;22118674;22190034;22235129;22268729;22304920;22354994;22586326;22797925;22863883;22939629;22967132;23000965;23049894;23097496;23125841;23265436;23349634;23587601;23798571;24141696;24172014;24583282;24623841;24650661;24654937;25036637;7656593;9272875;9533029;9588174 871 A8K259;E9PIG2;E9PJH8;E9PK86;E9PKH2;E9PLA6;E9PMI5;E9PNX1;E9PPV6;E9PQ34;E9PR70;E9PRS3;H0YEP8;P50454 AB044778;AB044779;AB044780;AB044781;ABBA01017463;AI926019;AK075504;AK094047;AK122936;AK130870;AK131503;AK290124;AK297811;AK309905;AMYH02025119;AP001922;AP002815;AY264853;AY744367;BC014623;BC036298;BC070087;BQ016136;BT007094;CB123399;CH471076;D83174;DC398178;JC011915;NG_012052;NM_001207014;NM_001235;X61598;XM_006718727;XM_006718728;XM_006718729 AAH14623;AAH36298;AAH70087;AAP35758;AAP93914;AAU95378;BAA11829;BAA96788;BAA96789;BAA96790;BAA96791;BAF82813;BAG53805;BAG60149;CAA43795;CDL93515;EAW74974;EAW74975;EAW74976;EAW74977;EAW74978;EAW74979;NP_001193943;NP_001226;P50454;XP_006718790;XP_006718791;XP_006718792 Hs.596449 1857685;2144786;2144788;2168656 A002P11;D11S4351;RH11786;STS-T11182 AsTP3;CBP1;CBP2;HSP47;OI10;PIG14;PPROM;RA-A47;SERPINH2;gp46 47 kDa heat shock protein;OTTHUMP00000229451;OTTHUMP00000229452;OTTHUMP00000229453;OTTHUMP00000229454;OTTHUMP00000229458;arsenic-transactivated protein 3;cell proliferation-inducing gene 14 protein;collagen-binding protein;colligin;colligin-1;colligin-2;proliferation-inducing gene 14;rheumatoid arthritis antigen A-47;rheumatoid arthritis-related antigen RA-A47;serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1);serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2, (collagen-binding protein 2);serine (or cysteine) proteinase inhibitor, clade h, member 1;serpin H1 APPROVED protein-coding ENSG00000149257 HGNC:1546 02968 600943;610504;613848 REVIEWED 1353244 SERTAD1 SERTA domain containing 1 INVOLVED IN positive regulation of cell proliferation (inferred); positive regulation of transcription, DNA-templated (inferred); regulation of cyclin-dependent protein serine/threonine kinase activity (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine 19 19 19 q13.1-q13.2 37727962 37731486 - 40928408 40931932 - 40422501 40426025 - 1580863;6480464 10580009;11331592;12477932;12736710;14675634;15065884;15489334;16098148;16189514;16201750;16303743;16713569;17141982;18316374;19176394;20211142;20570897;21044367;21344158;21725208;21988832;23443559;23970032;24250222;24722188;6434876;8125298 29950 Q53GC0;Q9UHV2 AA928491;ABBA01040757;AC010271;AF117959;AF366402;AK074652;AK222970;AK223011;AMYH02036113;AY130860;BC002670;CH471126;CQ783536;CS072423;KF456576;NM_013376 AAF08349;AAH02670;AAK52831;AAM77800;ABM83919;ABM87240;BAD96690;BAD96731;BAG51982;CAF86711;CAI93561;EAW56964;EAW56965;NP_037508;Q9UHV2 Hs.269898 2157307;2217958;5014039 D22S1584;SERTAD1_3583;STS-N31928 SEI-1;SEI1;TRIP-Br1 CDK4-binding protein p34SEI;CDK4-binding protein p34SEI1;SERTA domain-containing protein 1;transcriptional regulator interacting with the PHD-bromodomain 1 protein-coding HGNC:17932 15326 VALIDATED 1350169 SERTAD2 SERTA domain containing 2 ENCODES a protein that exhibits transcription coactivator activity (inferred); INVOLVED IN negative regulation of cell growth; FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 2 2 2 p14 64704952 64727240 - 64858755 64978048 - 64631621 64750914 - 1580863;6480464 11331592;12477932;15489334;15815621;16098148;17141982;18316374;19152710;19322201;20379614;21139048;22589738;23291629;8590280 9792 Q14140 ABBA01075423;ABBA01075424;AC007365;AK311117;AMYH02003967;BC074788;BC074789;BC101639;BC101641;BQ017415;CH471053;D50917;NM_014755;XM_005264669 AAH74788;AAH74789;AAI01640;AAI01642;AAY14766;ABZ92282;BAA09476;EAW99935;NP_055570;Q14140;XP_005264726 Hs.591569 1646275;1667651;1689059;2217960 RH12683;RH25350;SERTAD2_3516;WI-11513 MGC126688;MGC126690;Sei-2;TRIP-Br2 OTTHUMP00000202194;SERTA domain-containing protein 2;transcriptional regulator interacting with the PHD-bromodomain 2;transcriptional regulator interacting with the PHS-bromodomain 2 protein-coding ENSG00000179833 HGNC:30784 18040 VALIDATED 1603398 SERTAD3 SERTA domain containing 3 The protein encoded by this gene was identified in a yeast two-hybrid assay employing the second subunit of human replication protein A as bait. It is localized to the nucleus and its expression is significantly higher in cancer cell lines compared to normal cell lines. This protein has also been shown to be a strong transcriptional co-activator. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 37746311 37749842 - 40946748 40950282 - 40440841 40444375 - 6480464;8554872 10982866;11331592;12477932;15174051;15489334;16098148;16189514;17260023;19060904;21906983;24722188 29946 M0QXL4;M0R352;Q9UJW9 ABBA01040759;AC010271;AF192529;AK074604;AMYH02036115;AW242302;BC014061;BC050643;CH471126;CQ783944;NM_013368;NM_203344;XM_005258832;XM_006723179 AAF05761;AAH14061;AAH50643;BAG51975;CAF86937;EAW56966;EAW56967;EAW56968;NP_037500;NP_976219;Q9UJW9;XP_005258889;XP_006723242 Hs.515412 1680172;1791452;2217962 PMC110737P1;RH92950;SERTAD3_3582 RBT1 RPA-binding trans-activator;SERTA domain-containing protein 3;replication protein-binding trans-activator APPROVED protein-coding ENSG00000167565 HGNC:17931 15327 612125 REVIEWED 1351903 SERTAD4 SERTA domain containing 4 FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 1 1 1 q32.1-q41 183629578 183639844 + 210406195 210420252 + 210232850 210246907 + 737633;6480464 12477932 14702039;19156129;19322201;20368287 56256 Q9NUC0 ABBA01048203;AK096381;AK315386;AL035414;AMYH02002605;BC012083;CH471100;NM_019605;XM_005273193;XM_006711454 AAH12083;ABM84559;ABM86456;BAG37779;EAW93431;EAW93432;EAW93433;NP_062551;Q9NUC0;XP_005273250;XP_006711517 Hs.600545 1663731;1676097;1697548;2185248;2217964 RH102282;RH92965;SERTAD4_3610;SHGC-76284;SHGC-76290 DJ667H12.2 OTTHUMP00000034572;SERTA domain-containing protein 4 protein-coding HGNC:25236 15328 VALIDATED 1602254 SERTAD4-AS1 SERTAD4 antisense RNA 1 INTERACTS WITH all-trans-retinoic acid; cyclosporin A 1 1 1 q32.2 183628187 183630849 - 210404804 210407466 - 210231459 210234121 - 6480464 12477932;19240061 574036 Q5TG53 ABBA01048203;ABBA01048204;AL035414;AMYH02002605;BC066352;BC094794;BP422084;NR_024337 Q5TG53 Hs.446946 1697548 RH102282 C1orf133 APPROVED ncrna ENSG00000203706 HGNC:32019 VALIDATED 1316583 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009] 1 1 1 q25.1 146982409 146995977 - 173872938 173886516 - 173903800 173917378 - 1580118;1580119;1580122;1599331;1599321;1599323;1599326;1599332;1599333;1599337;1599327;1599330;1580863;2312416;5147779;5147765;6480464;6484113;6907045;7240710;8554872;8699517 12595305;15220100;15792522;15995859;16095456;16124052;16141622;16440418;16457847;16732381;1685742;20519137;21396682;3162535;7974333 10361121;10809774;10974350;10997988;11686316;11686319;11713457;11754060;11794707;11854268;11861278;11927130;12138164;12193972;12353073;12369826;12466122;12477932;12556442;12695507;12878203;12894857;12907439;1315572;1325679;1421387;14347873;14532267;14652650;14718574;14760718;1483709;15084671;15140129;15164384;15338392;1547341;1551681;1555650;15630490;15630491;15733967;15853774;15978566;1602151;16263699;16335952;16502470;16542481;16705712;16796563;16908819;16940049;1695900;16973611;17244682;17413759;17474147;17492649;17597998;17849067;18056677;1808766;18208532;18550704;1868237;1873223;1873224;18761717;18923394;18954896;19004141;1906811;19229049;19277409;1932746;19423540;19631608;19715676;19760264;19762145;1977621;19843180;19861246;19913121;19924026;1998601;20024502;20088933;2012760;2013320;20224507;20406964;20438785;20452482;20628086;20673868;20683322;2093312;21044781;21240680;21264449;2126464;21316837;21569219;21569220;21655678;21795523;21885952;22116592;22234719;2229057;22353523;22398878;22424603;22481271;22498748;22627591;22918506;22958499;22997155;23117546;23329010;23416531;23429250;2365065;23809926;23840401;23844096;24068708;24072242;24172014;2544589;2602168;2615648;2781509;2794060;2917133;2991253;2998880;3055413;3080419;3162733;3169232;3179438;3191114;3360140;3472589;3605071;3800906;3805013;3979120;6096369;6298709;6305982;6572945;6582486;6636045;6672771;6693405;6833231;7238875;7599134;7656006;7749926;7832187;7878627;7959685;7981186;7989582;7994035;8087553;8236149;8274732;8443391;8476848;8486379;8664906;8889549;9031473;9067613;9157604;9405673;9428387;9759613;9761669;9845533 462 P01008;Q8TCE1 AB083701;AB083703;AB083704;AB083707;ABBA01027895;AF130100;AF386078;AK312654;AL136170;AMYH02002157;BC022309;CH471067;CQ975467;D29832;H62671;H65301;H71210;HH713706;L00190;M21642;M21643;M21644;M21645;NG_012462;NM_000488;R84868;U11270;X00237;X00238;X03203;X03204;X68793;XM_005245198 AAA19930;AAA51793;AAA51794;AAA51795;AAA51796;AAB40025;AAG35525;AAH22309;AAK60337;BAA06212;BAC21173;BAC21174;BAC21175;BAC21176;BAG35537;CAA25059;CAA25060;CAA26951;CAA26952;CAA48690;CAI45858;CBX54631;EAW90969;EAW90970;EAW90971;NP_000479;P01008;XP_005245255 Hs.75599 1664605;1694948;1740945;1741015;1741115;1742447;1743961;1793944;2154751;2179198;5022578;5491400 D1S1423;G44373;GDB:176373;GDB:177376;GDB:177819;GDB:197001;GDB:379028;PMC310502P1;SERPINC1;SHGC-75923;SHGC-75924;SHGC-75926 AT3;AT3D;ATIII;MGC22579;THPH7 OTTHUMP00000035393;antithrombin III;antithrombin-III;serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1;serine-cysteine proteinase inhibitor clade C member 1;serpin C1 APPROVED protein-coding ENSG00000117601 HGNC:775 00122 107300;613118 REVIEWED 1601910 SERTM1 serine-rich and transmembrane domain containing 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH trichostatin A; valproic acid 13 13 13 q13.3 18315266 18339185 + 37248049 37271976 + 36673912 36697839 + 6480464;8554872 12107410;12477932;17207965;20379614;21832049 400120 A2A2V5 ABBA01021355;ABBA01021356;AK294236;AL136160;AMYH02027868;AMYH02027869;BC036540;BI544475;CA392022;CH471075;DC425828;NM_203451 A2A2V5;AAH36540;ADQ32380;BAG57534;EAX08568;NP_982276 Hs.422375 1737337 D13S935 C13orf36;MGC33996;RP11-16L6.1 OTTHUMP00000178564;hypothetical protein LOC400120;serine-rich and transmembrane domain-containing 1;serine-rich and transmembrane domain-containing protein 1 APPROVED protein-coding ENSG00000180440 HGNC:33792 14219 VALIDATED 1316757 SESN1 sestrin 1 This gene encodes a member of the sestrin family. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 6 6 6 q21 110053551 110161184 - 109307640 109415708 - 108986437 109094505 - 1580863;6480464;6907045 12477932;12607115;14702039;15105503;16751804;18692468;18703169;19704005;20800603;21067298;21890473;21906983;23000965;23274085;23535732;24250222;7938006;8889548;9926927 27244 Q9Y6P5 ABBA01026137;ABBA01026138;ABBA01026139;ABBA01026140;AF033120;AF033121;AF033122;AJ420599;AK001886;AK290157;AK290551;AL133559;AL355305;AL390208;AMYH02014277;BC112036;BC113569;BI549226;BU740021;CH471051;NG_029518;NM_001199933;NM_001199934;NM_014454 AAD04810;AAD04811;AAD04812;AAI12037;AAI13570;BAA91961;BAF82846;BAF83240;EAW48367;EAW48368;NP_001186862;NP_001186863;NP_055269;Q9Y6P5 Hs.591336 1646574;1661478;1681640;1697560;1858181;2117664;2144516;2177712;5094244 A007I12;G54662;RH102290;RH36549;RH37402;RH46062;RH46717;RH69830;RH75369 MGC138241;MGC142129;PA26;RP11-787I22.1;SEST1 OTTHUMP00000016951;OTTHUMP00000016952;OTTHUMP00000016953;p53 activated gene 26;p53 regulated PA26 nuclear protein;p53-regulated protein PA26;sestrin-1 APPROVED protein-coding ENSG00000080546 HGNC:21595 07310 606103 REVIEWED 1319828 SESN3 sestrin 3 This gene encodes a member of the sestrin family of stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 11 11 11 q21 92194063 92252174 - 94898677 94965705 - 95165513 95232541 - 1580863;6480464;6907045 12477932;12607115;14702039;15489334;17510393;19061837;19322201;20379614;20412774;21890473;22349704;22958918;23000965;23388456;24129397;24260131;24457600;24833709 143686 F5H1K7;P58005 AB072894;ABBA01040017;AF086251;AF086504;AK091132;AK096300;AK302366;AL832673;AMYH02025374;AMYH02025375;AP000787;BC013939;BC017296;BC045700;BX649128;CH471065;NM_001271594;NM_144665 AAH17296;BAC04754;BAH13685;EAW66959;EAW66960;NP_001258523;NP_653266;P58005 Hs.120633 1646230;1665797;1667353;1772160;1782252;1782256;1853487;1855916;1856430;2122461;2125977;2153125;2187186;5094028;5123714 A010B04;D11S2315E;D11S361;D11S4631;G33064;RH11849;RH18334;RH46209;RH47318;RH48984;RH68616;SGC34501;SHGC-111463;SHGC-111507;WI-16429 MGC29667;SEST3 OTTHUMP00000236979;OTTHUMP00000236986;sestrin-3 protein-coding ENSG00000149212 HGNC:23060 09682 607768 REVIEWED 1349123 SESTD1 SEC14 and spectrin domains 1 ENCODES a protein that exhibits phosphatidic acid binding; phosphatidylinositol-3,4-bisphosphate binding; phosphatidylinositol-3,5-bisphosphate binding; FOUND IN calcium channel complex; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; copper(2+) sulfate 2 2 2 q31.2 173560816 173723730 - 179966419 180129350 - 179101692 179264623 - 6480464 12477932;12837271;14702039;18187620;19240061;20164195;20379614;21903422;23509613;25036637 91404 B3KTX3;C9J4X8;C9JHW6;F8WFB2;H0Y774;H7BXT9;H7BZR8;Q86VW0 ABBA01062253;ABBA01062254;ABBA01062255;ABBA01062256;ABBA01062257;AC016755;AC093911;AK056075;AK057944;AK096232;AL122046;AMYH02005335;AMYH02005336;AMYH02005337;AY209190;BC029744;BC047578;BC053862;BC061918;CH471058;NM_178123;XM_005246944 AAH29744;AAH47578;AAH53862;AAP47744;AAY24093;AAY24323;ACE86789;ACE87475;BAB71618;BAG53235;CAB59182;EAX11010;NP_835224;Q86VW0;XP_005247001 Hs.30977 1647846;1661204;1665731;1671947;1849335;1850386;1856316;2118582;2167372;2184792;5093368 A009N12;G31511;G32678;RH17512;RH65909;RH69360;RH78358;RH78716;SHGC-36272;WI-14379;WI-14852 DKFZp434O0515;SOLO OTTHUMP00000206035;SEC14 domain and spectrin repeat-containing protein 1;huntingtin-interacting protein-like protein protein-coding ENSG00000187231 HGNC:18379 11549 VALIDATED 737028 SERPINI2 serpin peptidase inhibitor, clade I (pancpin), member 2 The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013] 3 3 3 q26.1 165558263 165590371 - 167159577 167196732 - 167441789 167474132 - 1580863;6480464;8554872 10097100;10992299;12477932;15489334;16189514;16713569;17668148;19641524;20453000;20967262;22110064;24172014;8125298;9624529 5276 B4DDY9;C9J7N5;C9JWE1;O75830 AB006423;ABBA01058730;AC107311;AF130470;AK226025;AK293391;AMYH02008082;BC027859;BX496933;CH471052;FY211025;FY212742;NM_001012303;NM_006217 AAD34723;AAH27859;BAA33766;BAG56900;EAW78587;NP_001012303;NP_006208;O75830 Hs.445555 1338242;1651941 D3S3673;G16564 MEPI;PI-14;PI14;TSA2004 OTTHUMP00000212687;OTTHUMP00000212688;OTTHUMP00000212689;PANCPIN;myoepithelium-derived serine protease inhibitor;pancreas-specific protein TSA2004;peptidase inhibitor 14;protease inhibitor 14;serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2;serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2;serpin I2 APPROVED protein-coding ENSG00000114204 HGNC:8945 05722 605587 REVIEWED 1346813 SESN2 sestrin 2 This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008] 1 1 1 p35.3 26981763 27004758 + 28585963 28609002 + 28259452 28282491 + 1580863;6480464;6907045;8554872 11230166;11256614;12203114;12477932;12607115;14702039;15105503;15489334;16344560;19113821;19377293;21139048;21418191;21536039;21988832;22363791;22450766;22749810;22982090;23238567;23274085;23383273;23916134;24046361;24825887;25040165 83667 P58004 ABBA01035018;AK025640;AK027896;AK315710;AL136551;AL353622;AMYH02000621;AY123223;AY538253;BC013304;BC033719;BI912024;CH471059;DB094914;NM_031459 AAH13304;AAH33719;AAM92261;ABM83753;ABM87072;ACE86501;ACE87182;BAB55438;BAG38070;CAB66486;EAX07703;NP_113647;P58004 Hs.469543 1733128;1778314;1853373;2118127;2122746;2142750;2149802 A001Z14;D1S1445;D1S1786E;D1S1788E;D1S2365;RH12617;SHGC-74473 DKFZp761M0212;DKFZp761M02121;HI95;SES2;SEST2 OTTHUMP00000003641;hypoxia induced gene 95;sestrin-2 APPROVED protein-coding ENSG00000130766 HGNC:20746 06378 607767 REVIEWED 1602124 SETD1B SET domain containing 1B SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008] 12 12 12 q24.31 121878891 121906814 + 122241879 122270562 + 121803683 121832656 + 6480464;6907045;7242632;9479053 22663077;23200123 10470851;12477932;17355966;17998332;18029348;18680430;18838538;18854154;19433449;20305087;20516061;22266653;22665483;22927943;22939629;24026423;24925220 23067 Q9UPS6 AB028999;ABBA01020184;ABBA01020185;AC079360;AC084018;AK000810;AMYH02027403;AMYH02027404;BC047909;BC080192;JF813787;NM_015048;XM_005253858;XM_006719295;XM_006719296 AEG67286;BAA83028;NP_055863;Q9UPS6;XP_005253915;XP_006719358;XP_006719359 Hs.507122 1681269 RH79998 FLJ20803;KIAA1076;KMT2G;Set1B;hSET1B OTTHUMP00000240050;SET domain-containing protein 1B;histone-lysine N-methyltransferase SETD1B;lysine N-methyltransferase 2G APPROVED protein-coding ENSG00000139718 HGNC:29187 611055 VALIDATED 1602894 SETD2 SET domain containing 2 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008] 3 3 3 p21.31 46996415 47143855 - 47057898 47205467 - 47016408 47163977 - 6480464;6907133;6907137;6907045;7242632 21654818;22035299;23200123 10958656;11042152;11214970;11461154;12477932;14702039;15302935;15489334;16118227;16314571;16344560;16713569;17081983;17500595;18585004;18985028;19141475;19155214;19322201;19367581;19698110;20054297;20501857;20944102;21139048;21282530;21988832;23065515;23325844;23417712;23602568;23620406;23644518;23667531;24019522;24029645;24097068;24158655;24509477;9700202 29072 C9JG86;H7BXT4;H7BZ93;H7C3H4;Q9BYW2 AB051519;ABBA01024702;ABBA01024703;ABBA01024704;ABBA01024705;ABBA01024706;ABBA01024707;ABBA01024708;AC094020;AC127430;AF049103;AF049610;AF161554;AI671342;AJ238403;AK026125;AK026837;AK091413;AK095494;AK127782;AK128096;AK131371;AL049470;AL713692;AL831959;AL833394;AMYH02006678;AMYH02006679;AMYH02006680;AMYH02006681;AMYH02006682;AMYH02006683;AY576987;AY576988;BC072440;BC090954;BC117162;BC117164;BF437034;BX649110;CH471055;DA800082;NG_032091;NM_014159;XM_005265094;XM_006713119;XM_006713120 AAC26194;AAC26846;AAF29041;AAH72440;AAH90954;AAI17163;AAI17165;AAT77612;AAT77613;BAB15367;BAB21823;BAC87131;BAD18522;CAC28349;CAD28492;CAD38601;CAH10589;EAW64805;EAW64806;EAW64807;EAW64808;EAW64809;EAW64810;EAW64811;NP_054878;Q9BYW2;XP_005265151;XP_006713182;XP_006713183 Hs.517941 1654690;2112594;2112692;2168569;2174566;2184083;2219158;5015741;5021066 D20S994;D3S4066;D3S4358;D3S4406;G10736;HYPB__6622;RH45910;SHGC-34751;SHGC-76906 FLJ16420;FLJ22472;FLJ23184;FLJ45883;FLJ46217;HBP231;HIF-1;HIP-1;HSPC069;HYPB;KIAA1732;KMT3A;SET2;hSET2;p231HBP OTTHUMP00000164782;SET domain-containing protein 2;histone-lysine N-methyltransferase SETD2;huntingtin interacting protein 1;huntingtin yeast partner B;huntingtin-interacting protein 1;huntingtin-interacting protein B;lysine N-methyltransferase 3A APPROVED protein-coding ENSG00000181555 HGNC:18420 11043 612778 REVIEWED 1605414 SETD1A SET domain containing 1A SET1A is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. The complex is the analog of the S. cerevisiae Set1/COMPASS complex (Lee and Skalnik, 2005 [PubMed 16253997]). Also see SET1B (MIM 611055).[supplied by OMIM, Mar 2008] 16 16 16 p11.2 29301475 29329094 - 30968615 30995985 + 30957294 30984664 + 6480464;6907045;7242632;9479053;8554872 22663077;23200123 12477932;12670868;15489334;16061203;16253997;17081983;17355966;17500065;17578910;17846119;17998332;18029348;18082152;18680430;18765639;18838538;19433449;19454010;19951360;20305087;20516061;20819778;21139048;21252943;21653943;21988832;22147691;22266653;22665483;22902626;22939629;23306522;23754954;24247718;24853937;9205841 9739 C9J2Z9;O15047 AB002337;ABBA01042072;ABBA01042073;AC135048;AMYH02031837;AMYH02031838;BC027450;BC035795;NM_014712;XM_005255723;XM_006721106;XM_006721107 AAH27450;AAH35795;BAA20797;NP_055527;O15047;XP_005255780;XP_006721169;XP_006721170 Hs.297483 2132211 SHGC-57014 KIAA0339;KMT2F;Set1;Set1A;hSET1A OTTHUMP00000197439;SET domain-containing protein 1A;histone-lysine N-methyltransferase SETD1A;lysine N-methyltransferase 2F;set1/Ash2 histone methyltransferase complex subunit SET1 APPROVED protein-coding ENSG00000099381 HGNC:29010 13795 611052 PROVISIONAL 1605381 SETD5 SET domain containing 5 This function of this gene has yet to be determined but mutations in this gene have been associated with autosomal dominant mental retardation-23. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014] 3 3 3 p25.3 9374104 9454540 + 9439384 9519838 + 9397700 9478154 + 6480464;8699517 11214970;12477932;14702039;15489334;16189514;16641997;19060904;24680889 55209 C9JLA7;C9JLM1;E7EWN3;F2Z2J0;F8WD12;H0Y3R4;H7C1F2;H7C1Q2;Q9C0A6 AB051544;ABBA01020411;AC018506;AI243838;AK001569;AK024384;AK025478;AK091393;AK092046;AK094975;AK127298;AK289529;AL442073;AMYH02006234;AW021954;BC012558;BC020956;BX648380;CH471055;CR627408;DB275141;NG_034132;NM_001080517;NM_001292043;XM_005265299;XM_005265301;XM_005265303;XM_005265307;XM_006713235;XM_006713236;XM_006713237;XM_006713238;XM_006713239;XM_006713240;XM_006713241;XM_006713242;XM_006713243;XM_006713244;XM_006713245 AAH20956;BAA91762;BAB14903;BAB15144;BAB21848;BAF82218;BAG52348;BAG54476;CAC09439;CAH10497;CAH10552;EAW63962;NP_001073986;NP_001278972;Q9C0A6;XP_005265356;XP_005265358;XP_005265360;XP_005265364;XP_006713298;XP_006713299;XP_006713300;XP_006713301;XP_006713302;XP_006713303;XP_006713304;XP_006713305;XP_006713306;XP_006713307;XP_006713308 Hs.288164 1658541;2131169;2132918;2147664;2159860;2177579;2188351;2188353;5015861;7185938 D10S16;G66213;G66214;RH12737;RH46923;SGC31297;SHGC-76684;SHGC-76694;WI-16427 DKFZp686J18276;FLJ10707;KIAA1757 OTTHUMP00000197546;OTTHUMP00000197548;OTTHUMP00000197549;SET domain-containing protein 5 protein-coding ENSG00000168137 HGNC:25566 615743;615761 REVIEWED 1316679 SET SET nuclear proto-oncogene The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 9 q34 102096741 102109482 + 131445934 131458675 + 128683655 128696396 + 1580863;6480464 10390352;10490631;11018049;11073993;11076863;11163245;11231286;11555662;11741927;11909973;11978794;12107410;12407107;12444089;12477932;12524539;12628186;14612398;14671643;14759373;15100215;15136563;15146197;15164053;15173575;15239126;15342556;15489334;15489336;15556635;15592452;15642345;15840729;15930275;15931263;16061203;16162853;16189514;16212417;16226712;16286244;1630450;16381901;16474839;16541025;16712791;16818237;16823850;16861234;16916647;17008916;17034827;17065150;17081983;17142970;17245428;17296573;17309103;17353931;17360516;17529993;17608644;17620317;17643375;17868381;17875674;18096310;18299449;18374643;18457437;18591933;18649364;18685082;18781797;18809386;18931446;19028839;19059912;19166587;19234487;19322201;19343227;19358706;19471022;19570594;19615732;19738201;19836239;19900756;20195357;20360068;20634891;20693670;20800572;20876349;21044950;21139048;21156847;21209461;21289314;21319273;21419339;21515671;21693764;21720744;21725597;21800051;21806989;21844565;21890473;21906983;21911363;21940793;21963094;21987572;21988832;22053931;22127260;22133779;22143534;22174317;22466417;22505724;22677993;22739068;22796192;22863883;22939629;23000965;23106910;23134341;23195690;23233674;23251465;23374587;23463506;23568457;23667531;23691099;23862649;24025258;24144296;24244333;24250222;24305947;24390425;24449214;24508256;24555657;24778252;24816145;24849368;24927563;7753797;8125298;8131851;8192856;8294483;8626647;9353299;9773788 6418 B2REB7;Q01105;Q5VXV3 ABBA01043894;ABBA01043895;ABBA01043896;AK223556;AK300609;AK300794;AK311346;AK315313;AL356481;AL359678;AMYH02021721;AMYH02021722;AY349172;BC014567;BC032749;BP343325;BQ774097;BU543146;CA392072;CA419540;CB129868;CH471090;CN408133;CR536543;CR542050;D45198;EF534308;JF729356;M93651;NG_030356;NM_001122821;NM_001248000;NM_001248001;NM_003011;U51924;X75091 AAA60318;AAC50460;AAH32749;AAQ79833;ABM85334;ABP96841;ABW03714;AEO27880;BAA08139;BAD97276;BAG37717;BAG62304;BAG62453;CAA52982;CAG38780;CAG46847;CAL37598;CAL37620;CAL37900;CAL38053;CAL38324;EAW87818;EAW87819;EAW87820;EAW87821;EAW87822;EAW87823;NP_001116293;NP_001234929;NP_001234930;NP_003002;Q01105 Hs.436687 1652448;1676916 RH69637;WI-7839 2PP2A;I-2PP2A;I2PP2A;IPP2A2;PHAPII;TAF-I;TAF-IBETA HLA-DR-associated protein II;IGAAD;OTTHUMP00000022285;OTTHUMP00000022286;OTTHUMP00000022287;OTTHUMP00000202056;SET nuclear oncogene;SET translocation (myeloid leukemia-associated);Template-Activating Factor-I, chromatin remodelling factor;inhibitor of granzyme A-activated DNase;inhibitor-2 of protein phosphatase-2A;phosphatase 2A inhibitor I2PP2A;protein phosphatase type 2A inhibitor;template-activating factor I APPROVED protein-coding ENSG00000119335 HGNC:10760 09023 600960 REVIEWED 1605343 SETD6 SET domain containing 6 ENCODES a protein that exhibits NF-kappaB binding; protein-lysine N-methyltransferase activity; INVOLVED IN negative regulation of NF-kappaB transcription factor activity; peptidyl-lysine monomethylation; regulation of inflammatory response; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-demecolcine; atrazine; copper(2+) sulfate 16 16 16 q21 43048356 43053420 + 58549383 58554431 + 58514781 58520527 + 6480464;8554872 12477932;14702039;15342556;15489334;16344560;19416867;21131967;21139048;21515635;21906983;21963094;23324626 79918 C9JCR1;E9PC53;H7C3N0;J3QT10;Q8TBK2 ABBA01025307;AC009118;AK024801;AK127136;AK290495;AK297288;AK304822;AK309468;AMYH02032119;AMYH02032120;BC022451;BC110433;BP338820;CH471092;DA074170;GD152628;NM_001160305;NM_024860;XM_006721271;XM_006721272;XR_243428;XR_243429;XR_429729;XR_429730 AAH22451;BAB15011;BAC86845;BAF83184;BAG59758;BAG65570;EAW82980;EAW82981;NP_001153777;NP_079136;Q8TBK2;XP_006721334;XP_006721335 Hs.731691 1655264;1694664;1848952;2115407;2120462;2147595;2151479;2184689;5022450 A002K05;D10S275;D16S2562E;D16S2941;D16S3186;G43512;RH35951;RH41889;SHGC-61172 FLJ21148 N-lysine methyltransferase SETD6;OTTHUMP00000196840;OTTHUMP00000196841;OTTHUMP00000196842;OTTHUMP00000196844;OTTHUMP00000196846;SET domain-containing protein 6 protein-coding HGNC:26116 07956 VALIDATED 1606498 SETD7 SET domain containing (lysine methyltransferase) 7 ENCODES a protein that exhibits histone-lysine N-methyltransferase activity; p53 binding; protein-lysine N-methyltransferase activity; INVOLVED IN peptidyl-lysine dimethylation; peptidyl-lysine monomethylation; PARTICIPATES IN p53 signaling pathway; histone modification pathway; lysine degradation pathway; ASSOCIATED WITH Cholestasis, Extrahepatic (ortholog); FOUND IN chromosome (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; paracetamol; trichostatin A 4 4 4 q28 137759367 137809746 - 140427192 140477577 - 139506038 139556423 - 2316155;6480464;6484113;6907045;7242554;7242632;9491846 19450511;22194015;23200123;24097032 11214970;11779497;11850410;12372304;12389038;12477932;12514135;12540855;12670868;15099517;15489334;15525938;16415881;17108971;17166833;17573780;17646389;17707234;18408754;18471979;18474616;18650421;19247474;19262565;19282482;19351588;19752191;19864627;20227660;20227666;20379614;20603083;20615470;20675860;21098664;21115810;21131967;21139048;21151116;21245319;21273441;21320024;21454678;21859860;21896933;21988832;22242964;22403242;22406368;22820736;22836579;22939629;23509280;23519668;23873758;24129573;25042802 80854 B5MCS2;B5MCZ8;D6RJA0;Q8WTS6;V9GY19;V9GYG1 AB051504;ABBA01069962;ABBA01069963;AC112236;AC114743;AF448510;AF462150;AK024846;AK310856;AMYH02010202;BC012784;BC040990;BC066361;BC110904;BC121055;BC121056;BM922680;CH471056;NM_030648 AAI21056;AAI21057;AAL56579;AAL69901;AAY40937;BAB21808;EAX05114;NP_085151;Q8WTS6 Hs.480792 1652466;1653454;1655741;1771456;2124204;2160744;2165089 1976;D4S2472E;D4S2475E;D4S3221;G33847;G41977;SHGC-67728 FLJ21193;KIAA1717;KMT7;SET7;SET7/9;SET9 H3-K4-HMTase SETD7;OTTHUMP00000164543;OTTHUMP00000220049;SET domain-containing protein 7;histone H3-K4 methyltransferase SETD7;histone H3-lysine 4-specific methyltransferase;histone-lysine N-methyltransferase SETD7;lysine N-methyltransferase 7 protein-coding ENSG00000145391 HGNC:30412 16226 606594 VALIDATED 1314725 SETBP1 SET binding protein 1 This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 18 18 18 q21.1 39067575 39456828 + 42258849 42648475 + 44680173 45068510 + 1580863;6480464;7240710;8554872;8699517 11231286;12168954;12477932;14718574;16582916;17549794;19913121;20379614;20436468;20628086;21037274;21371013;21832049;22333924;22495309;22693459;23020937;23222956;23443343;23558523;23604229;23628959;23648668;23832011;23832012;23889083;24117422;24127063;24796269;8889548;9455477 26040 K7ES17;Q9Y6X0 AB007897;AB022660;ABBA01022341;ABBA01022342;ABBA01022343;AC015954;AC021766;AC090376;AC105074;AC120049;AK123972;AL832945;AMYH02034635;AMYH02034636;AMYH02034637;AMYH02034638;AMYH02034639;AMYH02034640;AMYH02034641;AMYH02034642;BC062338;BC146776;BQ641251;CF143191;CH471088;KF456394;KF456395;NG_027527;NM_001130110;NM_015559;XM_005258243;XM_005258244;XM_006722438 AAH62338;AAI46777;BAA24826;BAA82444;EAX01441;NP_001123582;NP_056374;Q9Y6X0;XP_005258300;XP_005258301;XP_006722501 Hs.435458 1650359;1650576;1653238;1658760;1671171;1674525;1682906;1705600;1722091;1728201;1751969;1783720;1783746;1791262;2106597;2115460;2133316;2135421;2150538;2160759;2171866;2182591;2186253 A006F19;D18S1212;D18S1271;D18S1329;D18S861;G60087;G63523;MARC_9665-9666:996688503:1;RH16311;RH35832;RH46246;RH46559;RH47399;RH80518;SETBP1__5386;SHGC-105982;SHGC-154981;SHGC-156067;SHGC-34555;SHGC-35051;SHGC-83910;WI-14971;WI-17044 DKFZp666J1210;KIAA0437;SEB OTTHUMP00000163447;OTTHUMP00000209757;SET-binding protein APPROVED protein-coding ENSG00000152217 HGNC:15573 10224 269150;611060 REVIEWED 1641963 SETD8P1 SET domain containing 8 pseudogene 1 1 13 13 q11 122812956 122815641 + 126437 129129 + 18297685 18300377 + 12086618;12208845;12477932;9847074 57108 ABBA01016828;AC005283;AL356585;NG_003193 1684030 RH70202 SET07p;SET7 pseudo HGNC:30088 INFERRED 1602807 SETD8 SET domain containing (lysine methyltransferase) 8 ENCODES a protein that exhibits histone-lysine N-methyltransferase activity; p53 binding; protein-lysine N-methyltransferase activity; INVOLVED IN histone lysine methylation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-templated; PARTICIPATES IN p53 signaling pathway; histone modification pathway; lysine degradation pathway; FOUND IN nucleolus; nucleus; INTERACTS WITH aflatoxin B1; cadmium atom; cobalt dichloride 12 12 12 q24.31 123461215 123486597 + 123868704 123893900 + 123384157 123409353 + 6480464;6484113;6907045;7242554;7242632 22194015;23200123 12086618;12121615;12208845;12351676;12411495;12477932;12540855;15489334;15933069;15933070;15964846;17207965;17707234;18166648;18319261;18408754;18418072;18474616;18480059;18512960;19322201;19789321;20870725;20932471;20932472;20953199;20966048;21035370;21139048;21200139;21220508;21282610;21829513;21906983;21963094;21983900;22095217;22505724;22556262;22583696;22867998;23152447;23291132;23419719;23455924;23478445;23703321;23706821;23720754;23974872;24019522;24146953;24374662;24459145;24937452;8980232 387893 C9JKQ0;E3VVS3;F8WC45;Q9NQR1 ABBA01060416;ABBA01060417;AC137767;AC145423;AF287261;AK292645;AY064546;AY102937;BC050346;BQ773996;CH471054;HQ259683;NM_020382;XM_006719394 AAF97812;AAH50346;AAL40879;AAM47033;ADP08984;ADQ32515;BAF85334;EAW98406;EAW98407;EAW98408;EAW98409;NP_065115;Q9NQR1;XP_006719457 Hs.443735;Hs.572262 1684030;1698832 RH102980;RH70202 KMT5A;PR-Set7;SET07;SET8 H4-K20-HMTase SETD8;H4-K20-specific histone methyltransferase;H4K20-specific histone methyltransferase splice variant Set8b;N-lysine methyltransferase SETD8;OTTHUMP00000197452;OTTHUMP00000197454;PR/SET domain containing protein 8;PR/SET domain-containing protein 07;PR/SET07;SET domain-containing protein 8;histone-lysine N-methyltransferase SETD8;lysine N-methyltransferase 5A protein-coding ENSG00000183955 HGNC:29489 06254 607240 VALIDATED 1602299 SETD9 SET domain containing 9 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; cyclosporin A 5 5 5 q11.2 53159295 53175568 + 56205087 56221359 + 56909260 56925532 + 6480464 12477932;19322201;20930037 133383 C9J935;F8WBJ9;Q8NE22 ABBA01015768;AC008937;AK309152;AMYH02011333;BC036528;BG719045;CH471123;NM_001171990;NM_153706;XM_005248425;XM_005248426 AAH36528;ADZ15888;EAW54956;EAW54957;EAW54958;NP_001165461;NP_714917;Q8NE22;XP_005248482;XP_005248483 Hs.85950 1699934;1701016;1800116;1800676;1800954;1800994;1801890;1801950;1807654;1808686;1812680;1812776;1816580;1816860;1833646;1834694;1839050;1839974;1844114;1915202;1915204;1915206;1915208;1915210;1915212;1915214;1915216;1915218;1915220;1915222;1915224;1915226;1915228;1915230;1915232;1915234;1915236;1915238;1915240;1915242;1915244;1915246;1915248;1915250;1915252;1915254;1915256;1915258;1915260;1915262;1915264;1915266;1915268;1915270;1915272;1915274;1915276;1915278;1915280;1915282;1915284;1915286;1915288;1915290;1915292;1915294;1915296;1915298;1915300;1915302;1915304;1915306;1915308;1915310;1915312;1915314;1915316;1915318;1915320;1915322;1915324;1915326;1915328;1915330;1915332;1915334;1915336;1915338;1915340;1915342;1915344;1915346;1915348;1915350;1915352;1915354;1915356;1915358;1915360;1915362;1915364;2205936;2205938;2205940;2205942;2205944;2205946;2205948;2205950;2205952 ECD00914;ECD01199;ECD01342;ECD01363;ECD01826;ECD01856;ECD04799;ECD05325;ECD07351;ECD07399;ECD09332;ECD09476;ECD17968;ECD18495;ECD20704;ECD21171;ECD23270;REN28411;REN28412;REN28413;REN28414;REN28415;REN28416;REN28417;REN28418;REN28419;REN28420;REN28421;REN28422;REN28423;REN28424;REN28425;REN28426;REN28427;REN28428;REN28429;REN28430;REN28431;REN28432;REN28433;REN28434;REN28435;REN28436;REN28437;REN28438;REN28439;REN28440;REN28441;REN28442;REN28443;REN28444;REN28445;REN28446;REN28447;REN28448;REN28449;REN28450;REN28451;REN28452;REN28453;REN28454;REN28455;REN28456;REN28457;REN28458;REN28459;REN28460;REN28461;REN28462;REN28463;REN28464;REN28465;REN28466;REN28467;REN28468;REN28469;REN28470;REN28471;REN28472;REN28473;REN28474;REN28475;REN28476;REN28477;REN28478;REN28479;REN28480;REN28481;REN28482;REN28483;REN28484;REN28485;REN28486;REN28487;REN28488;REN28489;REN28490;REN28491;REN28492;RH103575;RH104135;stSG625169;stSG625171;stSG625172;stSG625173;stSG625174;stSG625175;stSG625176;stSG625177;stSG625178 C5orf35;MGC33648 OTTHUMP00000065817;SET domain-containing protein 9;hypothetical protein LOC133383;uncharacterized protein C5orf35 APPROVED protein-coding ENSG00000155542 HGNC:28508 14572 VALIDATED 69014 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 7 7 7 q22.1 95778744 95790926 + 100770370 100782547 + 101127089 101139266 + 1580127;1580126;1580190;1580131;1580123;1624959;1580132;1580863;2316117;2316116;4143529;4144832;4143512;4143514;4143527;4143513;4144037;4144039;4144040;4143525;4144840;4144842;4144861;4144828;4144830;4144831;4144856;4144867;4144850;4144833;4144837;4144846;4144041;4144827;4144836;4144847;4143511;4144038;6480464;5147765;6484146;6484113;6907045;7175506;7240710;8547806;8547697;8547875;8547715;8547710;8547695;8547723;8547755;8547709;8547741;8547913;8547923;8547927;8547699;8547863;8547879;8547882;8547901;8547914;8547805;8547949;8547735;8547862;8547693;8547748;8547749;8547758;8547912;8547711;8547742;8547756;8547720;8547894;8547740;6483796;8547802;7394765;8547804;8547810;8547700;8547738;8547752;8547753;1626626;8547903;8547809;8547941;8547731;8547730;8547737;8554872;8699517;8699494;8699497 10218712;10809802;11059781;11292663;11450024;11832778;11929177;11961044;11980614;12353078;12365557;12477941;12632020;12660488;12669121;12730079;12765340;12766088;12777947;12960956;14512089;14638747;14653439;15213845;15322501;15448007;15604340;15710819;15878520;16053971;16185530;16224526;16244763;16284739;16416371;16855181;17032919;17207889;17446839;17469143;17549286;17651644;17667242;17675241;17846288;18091579;18330639;18337154;18341631;18594148;19010488;19063817;19387177;19419896;19443721;19574431;19574558;19587273;19604112;19703828;19706694;19753144;19776253;19855955;20061390;20110652;20300292;20429897;20473240;20508215;20554458;20630999;21339035;21396682;21711960;22385289;22659625;22672326;23281898;23304115;24446892;7495343;7974340;8236167;8355419;8981909;9201602;9326241;9484978;9535178;9697825;9844142 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5054 P05121 ABBA01011350;AC004876;AF386492;AI752990;AK293248;AK297728;AK298048;AK316225;AMYH02016399;BC005927;BC010860;BC020765;BF351821;C00767;CH471197;CN309001;CN309016;CN309038;GN348256;HI555467;J03764;M14083;M16006;M22313;M22314;M22315;M22316;M22317;M22318;M22319;M22320;M22321;NG_013213;NM_000602;X04429;X04729;X04731;X04744;X12701;X13338;X13339;X13340;X13341;X13342;X13343;X13344;X13345 AAA60003;AAA60007;AAA60008;AAA60009;AAD45828;AAH10860;AAK60338;ABM81620;ABM84803;BAH11475;BAH12656;BAH12712;BAH14596;CAA28025;CAA28438;CAA28442;CAA28444;CAA31208;CAA31722;CAA31729;CAB51606;CAB51607;CAB51639;CAB51737;CAB51738;CAB51739;CAY56481;CBX47312;EAW50195;EAW50196;EAW50197;NP_000593;P05121 Hs.414795;Hs.713079;Hs.741440 1338441;1662935;1665501;1669029;1742677;1742701;1774235;2129271;2132750;2139716;2141957;2161204;7187497 A008P30;D7S477;G10517;GDB:201753;GDB:201866;GDB:3755009;GDB:4585717;GDB:512828;PAI1;PLANH1;RH48262;STS-D29544 PAI;PAI-1;PAI1;PLANH1 OTTHUMP00000211478;endothelial plasminogen activator inhibitor;plasminogen activator inhibitor 1;serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1;serpin E1 1643388;1643401 BMD1_H;BW321_H APPROVED protein-coding ENSG00000106366 HGNC:8583 01418 173360;613329 REVIEWED 5508281 SETP1 SET pseudogene 1 14 14 14 q11.2 857144 857994 - 20996272 20997119 - 20528113 20528960 - 100133314 ABBA01061232;AL163195;AMYH02028825;NG_030238 SETP;SETP19 APPROVED pseudo HGNC:19279 INFERRED 1321179 SETDB2 SET domain, bifurcated 2 Proteins that contain a SET domain, such as SETDB2, modulate gene expression epigenetically through histone H3 (see MIM 601128) methylation. SETDB2 is likely a histone H3 methyltransferase, as it contains both the active site and flanking cysteine residues required for catalytic activity (Zhang et al., 2003 [PubMed 12754510]).[supplied by OMIM, Mar 2008] 13 13 13 q14 31073381 31124092 + 50018429 50069139 + 49444166 49495003 + 1580863;6480464;6907045;8554872 11306461;12477932;12754510;15057823;15489334;16344560;18498648;20085599;20404330;22797925 83852 Q8NDJ9;Q96T68;X6R383 AB209349;ABBA01051016;ABBA01051017;AF086317;AF277186;AF334407;AK307593;AK308220;AK308354;AK311602;AL136218;AL139321;AL831937;AL833957;AMYH02028010;AMYH02028011;AW297242;BC017078;BC028202;BC047434;CH471075;DB164537;NM_001160308;NM_031915;XM_005266568;XM_005266569;XM_005266570;XM_005266572;XM_005266573;XM_006719879;XM_006719880;XR_245401;XR_429223 AAH17078;AAH47434;AAK38373;BAD92586;CAD38807;CAH56265;EAX08824;EAX08825;EAX08826;NP_001153780;NP_114121;Q96T68;XP_005266625;XP_005266626;XP_005266627;XP_005266629;XP_005266630;XP_006719942;XP_006719943 Hs.631789 1690218;1858208;2140976;2150129;5016781 RH48846;RH69241;RH93583;SHGC-67307;STS-AA039375 C13orf4;CLLD8;CLLL8;DKFZp586I0123;DKFZp761J1217;KMT1F OTTHUMP00000018417;OTTHUMP00000018418;chronic lymphocytic leukemia deletion region 8;chronic lymphocytic leukemia deletion region gene 8 protein;histone-lysine N-methyltransferase SETDB2;lysine N-methyltransferase 1F APPROVED protein-coding ENSG00000136169 HGNC:20263 09712 607865 VALIDATED 1348585 SETMAR SET domain and mariner transposase fusion gene This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 3 3 3 p26.1 4282941 4296902 + 4344988 4358949 + 4303304 4317265 + 6480464;6907045 12477932;15489334;16169070;16332963;16672366;16989604;17130240;17403897;17877369;18263876;18498648;18773976;18790802;19390626;19458360;20416268;20457750;20800603;21124928;21187428;21491884;22231448;23455924;24024966;24573677;24607956;24655462;25024738;7670491;8125298;8619474;9110174;9461395 6419 B4DND2;B9ZVV8;F8WB33;F8WEU1;Q53H47 ABBA01020470;AC023483;AC034191;AF054989;AK222734;AK297865;AK302296;AK307537;AK311418;AMYH02006182;AY952295;BC008931;BC011635;BG479260;CH471055;DC357038;DQ341316;NM_001243723;NM_001276325;NM_006515;NR_024022;NR_075073;U52077;U80776;XM_006713292;XM_006713293;XM_006713294;XM_006713295;XM_006713296;XM_006713297 AAC09350;AAC52010;AAC52012;AAH08931;AAH11635;AAY29570;ABC72087;BAD96454;BAG60194;BAG63636;EAW63903;EAW63904;EAW63905;NP_001230652;NP_001263254;NP_006506;Q53H47;XP_006713355;XP_006713356;XP_006713357;XP_006713358;XP_006713359;XP_006713360 Hs.475300 1696314 SHGC-77734 HsMar1;Mar1 METNASE;OTTHUMP00000115296;OTTHUMP00000207093;SET domain and mariner transposase fusion gene-containing protein;histone-lysine N-methyltransferase SETMAR protein-coding ENSG00000170364 HGNC:10762 10225 609834 REVIEWED 6480410 SETP10 SET pseudogene 10 1 1 1 q25.2 152261988 152262728 + 179153087 179153827 + 179183952 179184692 + 100287822 ABBA01027823;AL512326;AMYH02002229;NG_022819;NG_028242 pseudo HGNC:42929 INFERRED 6480407 SETP11 SET pseudogene 11 3 3 3 149399999 149400692 + 150987226 150987919 + 151269438 151270131 + 100419187 ABBA01058911;AC078816;AMYH02007898;NG_025756 1337856 D3S3625 pseudo HGNC:42930 INFERRED 6482156 SETP13 SET pseudogene 13 100873167 AC005666;NG_032538 pseudo HGNC:42932 INFERRED 6482538 SETP14 SET pseudogene 14 3 3 3 q25.31 154126687 154128492 + 155705042 155706847 + 155987253 155989058 + 15670842;16195249 389168 ABBA01058845;AC067721;AMYH02007968;NG_017152 pseudo HGNC:42933 INFERRED 5684150 SETP12 SET pseudogene 12 4 4 4 119202247 119202778 - 121817273 121817804 - 120896118 120896649 - 100419158 ABBA01044721;AC104068;AMYH02010002;NG_025157;NG_031862 1762257 SHGC-146118 pseudo HGNC:42931 INFERRED 5684431 SETP15 SET pseudogene 15 X X 15935671 15935969 + 15917548 15917846 + 100856877 ABBA01071365;AC004106;AMYH02038920;NG_031903 pseudo HGNC:42934 INFERRED 1319950 SETD3 SET domain containing 3 ENCODES a protein that exhibits histone methyltransferase activity (H3-K36 specific) (ortholog); transcription coactivator activity (ortholog); INVOLVED IN histone H3-K36 methylation (ortholog); peptidyl-lysine dimethylation (ortholog); peptidyl-lysine monomethylation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nuclear chromatin (inferred); INTERACTS WITH diazinon; tert-butyl hydroperoxide; 17alpha-ethynylestradiol (ortholog) 14 14 14 q32.2 79918981 80002111 - 99864083 99947228 - 99397746 99480891 - 6480464;8554872 11329013;12477932;14702039;15489334;16094384;18029348;19322201;21139048;21832049;21832073;21963094;22145905;22939629;23602568;24816145 84193 C9K0W5;Q6NXR6;Q86TU7 ABBA01048559;ABBA01048560;AK026680;AK302882;AL110504;AL132819;AL359581;AMYH02029833;AMYH02029834;AMYH02029835;BC009054;BC037395;BC066931;BC120967;BC120968;BC127624;BC127625;BC142995;BC148251;BG194029;BX161441;BX161471;CB988965;CH471061;NM_032233;NM_199123;XM_005268126;XM_005268127 AAH09054;AAH66931;AAI20968;AAI20969;AAI27625;AAI27626;AAI42996;AAI48252;BAB15525;BAG64060;CAD61911;CAD61927;CAH56365;EAW81664;EAW81665;EAW81666;EAW81667;NP_115609;NP_954574;Q86TU7;XP_005268183;XP_005268184 Hs.510407 1651379;1679281;1798960;1799676;1799832;1800384;1800478;1801298;1804528;1805756;1806164;1807524;1807798;1809050;1809052;1809530;1809532;1812976;1813368;1813508;1813580;1819546;1822562;1822564;1824062;1824140;1824762;1826638;1830770;1839692;1841792;1847974;1849503;1955618;1955620;1955622;1955624;1955626;1955628;1955630;1955632;1955634;1955636;1955638;1955640;1955642;1955644;1955646;1955648;1955650;1955652;1955654;1955656;1955658;1955660;1955662;1955664;1955666;1955668;1955670;1955672;1955674;1955676;1955678;1955680;1955682;1955684;1955686;1955688;1955690;1955692;1955694;1955696;1955698;1955700;1955702;1955704;1955706;1955708;1955710;1955712;1955714;1955716;1955718;1955720;1955722;1955724;1955726;1955728;1955730;1955732;1955734;1955736;1955738;1955740;1955742;1955744;1955746;1955748;1955750;1955752;1955754;1955756;1955758;1955760;1955762;1955764;1955766;1955768;1955770;1955772;1955774;1955776;1955778;1955780;1955782;1955784;1955786;1955788;1955790;1955792;1955794;1955796;1955798;1955800;1955802;1955804;1955806;1955808;1955810;1955812;1955814;1955816;1955818;1955820;1955822;1955824;1955826;1955828;1955830;1955832;1955834;1955836;1955838;1955840;1955842;2122528;2133392;2212566;2212568;2212570;2212572;2212574;2212576;2212578;2212580;2212582;2212584;2212586;2212588;2212590;2212592;2212594 A006R32;ECD00322;ECD00692;ECD00770;ECD01052;ECD01099;ECD01521;ECD03193;ECD03829;ECD04036;ECD04734;ECD04874;ECD05512;ECD05513;ECD05757;ECD05758;ECD07502;ECD07705;ECD07775;ECD07813;ECD10840;ECD12369;ECD12370;ECD13127;ECD13166;ECD13479;ECD14433;ECD16521;ECD21029;ECD22095;G36029;REN48671;REN48672;REN48673;REN48674;REN48675;REN48676;REN48677;REN48678;REN48679;REN48680;REN48681;REN48682;REN48683;REN48684;REN48685;REN48686;REN48687;REN48688;REN48689;REN48690;REN48691;REN48692;REN48693;REN48694;REN48695;REN48696;REN48697;REN48698;REN48699;REN48700;REN48701;REN48702;REN48703;REN48704;REN48705;REN48706;REN48707;REN48708;REN48709;REN48710;REN48711;REN48712;REN48713;REN48714;REN48715;REN48716;REN48717;REN48718;REN48719;REN48720;REN48721;REN48722;REN48723;REN48724;REN48725;REN48726;REN48727;REN48728;REN48729;REN48730;REN48731;REN48732;REN48733;REN48734;REN48735;REN48736;REN48737;REN48738;REN48739;REN48740;REN48741;REN48742;REN48743;REN48744;REN48745;REN48746;REN48747;REN48748;REN48749;REN48750;REN48751;REN48752;REN48753;REN48754;REN48755;REN48756;REN48757;REN48758;REN48759;REN48760;REN48761;REN48762;REN48763;REN48764;REN48765;REN48766;REN48767;REN48768;REN48769;REN48770;REN48771;REN48772;REN48773;REN48774;REN48775;REN48776;REN48777;REN48778;REN48779;REN48780;REN48781;REN48782;REN48783;RH68701;RH78765;SHGC-30385;SHGC-35053;stSG632255;stSG632257;stSG632258;stSG632259;stSG632260;stSG632261;stSG632262;stSG632263;stSG632264;stSG632265;stSG632266;stSG632267;stSG632269;stSG632270;stSG632271 C14orf154;DKFZp761E1415;FLJ23027;MGC87236 OTTHUMP00000028053;OTTHUMP00000067230;OTTHUMP00000067231;SET domain-containing protein 3;histone-lysine N-methyltransferase setd3 protein-coding ENSG00000183576 HGNC:20493 08664 615671 VALIDATED 6480422 SETP16 SET pseudogene 16 11 11 11 q23.3 115863813 115864581 - 118704506 118705274 - 118833797 118834565 - 649925 ABBA01039693;AMYH02025654;AP004609;NG_021806 pseudo HGNC:42935 INFERRED 6480413 SETP17 SET pseudogene 17 11 11 11 q14.2 83316488 83317278 + 86005830 86006620 + 86294788 86295578 + 100130043 ABBA01017323;AMYH02025230;AP001148;AP003084;NG_021827 1726991 G62893 pseudo HGNC:42936 INFERRED 1343389 SETP2 SET pseudogene 2 14 14 14 q22.1 31769618 31772959 + 51902687 51906031 + 51435969 51439313 + 326277 ABBA01018154;AL358332;AMYH02029180;NG_002537 pseudo HGNC:20032 INFERRED 5684430 SETP21 SET pseudogene 21 5 5 59755679 59756566 - 60459852 60460739 - 100856878 ABBA01015801;AC109486;AMYH02011368;NG_031904 pseudo HGNC:42940 INFERRED 6480424 SETP22 SET pseudogene 22 5 5 5 q15 92274781 92277519 - 96390387 96393125 - 97054683 97057421 - 642737 ABBA01069224;AC008865;AC008905;AMYH02011835;KF457948;NG_017145 pseudo HGNC:42941 INFERRED 5686951 SETP3 SET pseudogene 3 17 17 q22 56553552 56554313 - 58476191 58476952 - 619349 ABBA01041337;AC005666;AMYH02033689;NG_032022 SETP13 pseudo HGNC:31115 INFERRED 6480416 SETP5 SET pseudogene 5 9 9 9 q34.3 111059355 111059916 - 140535463 140536024 - 137641011 137641572 - 100130014 ABBA01022782;AL590627;AMYH02021947;NG_011776;NG_021638 pseudo HGNC:42924 INFERRED 1353006 SETD4 SET domain containing 4 ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH acetaldehyde; bisphenol A; copper(2+) sulfate 21 21 21 q22.13 22605727 22631704 - 37406839 37432869 - 36034541 36060818 - 6480464;8554872 10830953;11707072;12477932;14702039;14759258;15489334;21890473;21906983;23251661;24250222;9740676 54093 A8MTS1;C9J256;C9JIU9;C9JPA1;C9JWV5;C9JYV0;Q9NVD3 AB004848;AB004849;AB004852;AB004853;ABBA01057382;AF391112;AI636385;AK001660;AK095215;AK124254;AK126368;AK300009;AMYH02037771;AMYH02037772;AX877226;BC002898;BC036556;BF195582;CH471079;DC368543;DC394539;KF457258;NM_001007259;NM_001007261;NM_001286752;NM_017438;NR_040087;XM_005260999;XM_005261000;XM_005261001;XM_005261003;XM_006724021;XM_006724022;XM_006724023;XR_244283;XR_430350 AAH02898;AAH36556;AAL34503;ABZ92338;BAA91819;BAG61826;CAE89628;EAX09756;EAX09757;EAX09758;EAX09759;EAX09760;EAX09761;EAX09762;NP_001007260;NP_001007262;NP_001273681;NP_059134;Q9NVD3;XP_005261056;XP_005261057;XP_005261058;XP_005261060;XP_006724084;XP_006724085;XP_006724086 Hs.606200 1657473;1661892;1699562;2135975;5020946;5037552 D8S2279;L17971;RH103382;SHGC-13275;SHGC-87609;SHGC-87620 C21orf18;C21orf27 OTTHUMP00000108887;OTTHUMP00000108888;OTTHUMP00000108889;OTTHUMP00000108890;OTTHUMP00000108891;OTTHUMP00000108892;OTTHUMP00000108894;OTTHUMP00000108895;OTTHUMP00000108897;SET domain-containing protein 4 protein-coding ENSG00000185917 HGNC:1258 10743 VALIDATED 6480406 SETP6 SET pseudogene 6 3 3 3 82404269 82404836 - 81661389 81661956 - 81612238 81612805 - 100419178 ABBA01031052;AC017015;AMYH02007150;NG_025596 pseudo HGNC:42925 INFERRED 6480417 SETP8 SET pseudogene 8 X X X q23 116555433 116556057 + 116097017 116097644 + 116963049 116963676 + 100128536 ABBA01036956;AL732604;AMYH02040301;NG_022693 pseudo HGNC:42927 INFERRED 6482157 SETP7 SET pseudogene 7 12 12 107665162 107665620 + 107271385 107271843 + 100873166 ABBA01053160;AC007649;AMYH02027140;NG_032537 pseudo HGNC:42926 INFERRED 6480415 SETP9 SET pseudogene 9 1 1 1 q23.3 133708666 133709496 + 160639941 160640771 + 160670151 160670981 + 100129738 ABBA01016612;AL121985;AMYH02002026;NG_022811 pseudo HGNC:42928 INFERRED 6480423 SETSIP SET-like protein ENCODES a protein that exhibits chromatin binding; INVOLVED IN endothelial cell differentiation; positive regulation of transcription from RNA polymerase II promoter; FOUND IN cytoplasm; nucleus; INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 1 1 1 p22.1 90786534 90787409 - 92540093 92540968 - 92074436 92075472 - 6480464 22354994;22863883;22869753 646817 P0DME0 ABBA01045554;AC104836;AMYH02001477;NM_001287737 NP_001274666;P0DME0 SETP18 SET nuclear oncogene pseudogene;SET pseudogene 18;SET pseudogene protein 18;SET similar protein APPROVED protein-coding ENSG00000230667 HGNC:42937 VALIDATED 6480304 SETP4 SET pseudogene 4 INTERACTS WITH torcetrapib X X X q21.1 84249417 84250896 + 84010006 84011485 + 84754998 84756477 + 6480464 11181995;12477932 642869 AMYH02039887;BC015351;CH471104;NG_017144;Z95126 EAW98571 Hs.648339 pseudo HGNC:42923 INFERRED 1320435 SEZ6 seizure related 6 homolog (mouse) INVOLVED IN adult locomotory behavior (inferred); cerebellar Purkinje cell layer development (inferred); negative regulation of dendrite development (inferred); ASSOCIATED WITH Seizures (ortholog); FOUND IN apical dendrite (inferred); dendritic shaft (inferred); dendritic spine (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-); arsenous acid 17 17 17 q11.2 24141317 24192463 - 27281923 27333458 - 28954905 29006063 - 724667;6480464;8554872 7723619 12351182;12477932;14702039;16169070;16344560;17086543;21900206;7488116;8125298 124925 C9JFF1;H0YF95;H0YFT6;H0YFX0;H0YGK0;K7ELJ4;Q53EL9 ABBA01015034;ABBA01015035;ABBA01015036;AC024267;AC024619;AF502129;AF502130;AK054913;AK055383;AK091522;AK096473;AK125377;AK223620;AL834405;AMYH02033233;AY038048;BC069260;CH471159;DA123986;NM_001098635;NM_001290202;NM_178860 AAI46293;AAK71497;AAM22213;AAM22214;BAB70826;BAB70912;BAC03684;BAD97340;CAD39067;EAW51170;EAW51171;EAW51172;EAW51173;EAW51174;NP_001092105;NP_001277131;NP_849191;Q53EL9 Hs.21837 1339128;1678789;1687732;1695856;1758937;2106599;5019641;5127897 D17S925;G32307;RH12427;RH66983;SEZ6__5387;SHGC-151098;SHGC-152086;SHGC-78803 SEZ-6;hSEZ-6 OTTHUMP00000237561;OTTHUMP00000237562;OTTHUMP00000237567;OTTHUMP00000237570;seizure protein 6 homolog protein-coding ENSG00000063015 HGNC:15955 18041 VALIDATED 1354478 SF Stoltzfus blood group ASSOCIATED WITH HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2 (inferred) 7240710 5365757;6948764 6420 HGNC:10764 111800;145250;611664 5490945 SETP20 SET pseudogene 20 4 4 4 q25 107768258 107774944 - 110474402 110475250 - 109553246 109554094 - 21906983;9847074 389217 ABBA01063777;AC105314;AMYH02009898;NG_029996 pseudo HGNC:42939 INFERRED 1344560 SEZ6L seizure related 6 homolog (mouse)-like INVOLVED IN adult locomotory behavior (inferred); cerebellar Purkinje cell layer development (inferred); regulation of protein kinase C signaling (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); neuronal cell body (inferred); INTERACTS WITH 5-fluorouracil; all-trans-retinoic acid; atrazine 22 22 22 q12.1 10369614 10583724 + 26565440 26779563 + 26169474 26383597 + 1580863;6480464;8554872 10231032;10591208;11175339;11992124;12477932;12529303;12975309;15461802;15489334;17554300;17804757;19336575;19913121;19955471;20379614;20424129;20628086;21901158;22837378;22920719 23544 B0QYH4;B0QYH5;B4DGV2;B7ZLJ8;Q9BYH1 AB023144;AB041736;ABBA01055192;ABBA01055193;ABBA01055194;ABBA01055195;ABBA01055196;ABBA01055197;ABBA01055198;AK294790;AL022337;AL023513;AL035545;AL050253;AL078460;AL080273;AMYH02038163;AMYH02038164;AMYH02038165;AY358405;BC037846;BC126115;BC143851;BC143854;BM875686;CH471095;CR456574;KF457391;KF457392;NM_001184773;NM_001184774;NM_001184775;NM_001184776;NM_001184777;NM_021115;XM_005261439;XM_005261440;XM_006724195;XM_006724196 AAI26116;AAI43852;AAI43855;AAQ88771;BAA76771;BAB40970;BAG57913;CAB37431;CAB43355;CAG30460;CAK54604;CAK54903;EAW59711;EAW59712;EAW59713;EAW59714;NP_001171702;NP_001171703;NP_001171704;NP_001171705;NP_001171706;NP_066938;Q9BYH1;XP_005261496;XP_005261497;XP_006724258;XP_006724259 Hs.194766 1339163;1339925;1654537;1658037;1674987;1675186;1678737;1706718;1716057;1726473;1727893;1735066;1774665;1784494;1848409;1854779;1856763;2115184;2163463;2166063;2173652;2182185;5093542;5113502 A002S43;A008Q32;A009Q26;D22S1013E;D22S1017E;D22S1154;D22S1684;D22S310;D22S635;D22S638;D22S988E;G09583;G13368;G18187;G32780;G62616;G63363;HSC2JG082;RH120992;RH77725;SHGC-141571;SHGC-82865;WI-18670;WI-21996 OTTHUMP00000198626;OTTHUMP00000198627;OTTHUMP00000198628;OTTHUMP00000198629;OTTHUMP00000198648;OTTHUMP00000198649;seizure 6-like protein;seizure related gene 6-like protein-coding ENSG00000100095 HGNC:10763 08449 607021 VALIDATED 1606022 SEZ6L2 seizure related 6 homolog (mouse)-like 2 This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 16 16 16 p11.2 72886639 72900492 + 29882480 29910585 - 29871159 29899264 - 6480464;8554872 12477932;12975309;14702039;16303743;16344560;16863507;17207965;19242545;19260139;20503337;21394203;21890473;21988832;23006423;23273568;24722188;8619474;9110174 26470 B7Z5L4;H3BN26;I3L111;Q6UXD5 ABBA01013112;ABBA01013113;ABBA01013114;ABBA01013115;AC120114;AC244166;AF131749;AJ245820;AJ245821;AJ245822;AK027407;AK027676;AK074998;AK293675;AK299103;AY358404;BC000567;CH471238;DA188718;DA726021;EL733582;GN088322;KC877609;KJ534938;KJ534939;KJ534940;KJ534941;KJ534988;KJ534989;KJ535068;KJ535092;NG_029737;NM_001114099;NM_001114100;NM_001243332;NM_001243333;NM_012410;NM_201575;XM_005255252 AAH00567;AAQ88770;ABW03462;AHW56578;AHW56579;AHW56580;AHW56581;AHW56628;AHW56629;AHW56707;AHW56731;BAC11345;BAG51315;BAG51364;BAH11566;BAH12950;CAB57950;CAB57951;CAB57952;CAX86995;EAW79973;NP_001107571;NP_001107572;NP_001230261;NP_001230262;NP_036542;NP_963869;Q6UXD5;XP_005255309 Hs.6314 1679027;1682726;1772619;2151310;2181778 D16S3185;RH11802;RH64895;SHGC-60606;UniSTS:67512 FLJ90517;PSK-1 OTTHUMP00000162991;OTTHUMP00000162992;seizure 6-like protein 2;seizure related 6-like protein 2;type I transmembrane receptor (seizure related protein);type I transmembrane receptor (seizure-related protein) APPROVED protein-coding ENSG00000174938 HGNC:30844 06686 REVIEWED 1342667 SF3A3P1 splicing factor 3a, subunit 3 pseudogene 1 20 20 20 p13 3531891 3533586 - 3469976 3471671 - 3489329 3491024 - 170548 ABBA01053824;AL109805;AMYH02036598;NG_001054;NG_029406 1651420 D20S1122 SF3A3P;dJ581P3.1 splicing factor 3a, subunit 3 pseudogene pseudo HGNC:16576 INFERRED 1318510 SF3A2 splicing factor 3a, subunit 2, 66kDa This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 2170993 2182854 + 2236816 2248678 + 2236817 2248679 + 1580863;6480464;6907045 10385517;10882114;11500380;11533230;11602354;11991638;12226669;12234937;12477932;15057824;15142036;15231748;15316075;15489334;15576338;15647371;16009940;16055720;17332742;17549794;19615732;20360068;20379614;21139048;21145461;21890473;21906983;22174317;22365833;22939629;23398456;24163370;24250222;24550385;24816145;25015289;8211113;8541848;8718683;9016565;9576861;9710584;9731529 8175 K7EMT0;Q05DF2;Q15428 ABBA01002714;AC005263;AK314815;AMYH02035186;BC004434;BC009903;BC015804;BG325385;BQ642367;CH471139;L21990;NM_007165 AAA60301;AAC25613;AAH04434;AAH09903;AAH15804;ABM87780;BAG37338;EAW69398;EAW69399;EAW69400;EAW69401;EAW69402;EAW69403;EAW69404;NP_009096;Q15428 Hs.115232 5015810 GDB:182516 PRP11;PRPF11;SAP 62;SAP62;SF3a66 pre-mRNA splicing factor SF3A, subunit 2;spliceosome associated protein 62;spliceosome-associated protein 62;splicing factor 3A subunit 2;splicing factor 3a, subunit 2, 66kD APPROVED protein-coding ENSG00000104897 HGNC:10766 02877 600796 REVIEWED 1603800 SF3A3P2 splicing factor 3a, subunit 3 pseudogene 2 11 11 11 q24.1 120626866 120629601 - 123467446 123470182 - 123596738 123599474 - 449645 ABBA01031270;AMYH02025718;AP002765;NG_004710 1681251;2123489 RH79909;SHGC-74617 pseudo HGNC:23277 INFERRED 1318668 SF3A3 splicing factor 3a, subunit 3, 60kDa This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 36700413 36734071 - 38422647 38456019 - 37956975 37990341 - 1580863;6480464;6907045 10882114;11500380;11533230;11991638;12226669;12234937;12477932;12565890;14559993;15316075;15456888;15489334;15592455;15635413;15647371;16055720;16189514;16710414;17081983;17098193;17332742;17353931;18029348;18654987;18713018;19615732;19738201;20360068;21139048;21145461;21832049;21890473;21906983;21963094;22079093;22174317;22178446;22190034;22354994;22365833;22863883;22939629;23862649;24457600;24550385;24583282;24654937;24816145;7816610;8022796;8125298;8889548;9731529 10946 B3KY12;Q12874 ABBA01023251;ABBA01023252;ABBA01023253;ABBA01023254;AI492088;AK026887;AK128438;AK222554;AK291181;AK292116;AK301424;AL603790;AMYH02000806;AMYH02000807;AMYH02000808;AMYH02000809;AMYH02000810;BC002395;BC011523;BM702776;BM905122;CA443595;CH471059;N67022;N91991;NM_006802;U08815;XM_005270390 AAA19625;AAH02395;AAH11523;ABM82046;ABW03360;BAD96274;BAF83870;BAF84805;BAG54674;BAG62952;EAX07304;EAX07305;EAX07306;NP_006793;Q12874;XP_005270447 Hs.77897 1341860;1651420;1681251;1720941;1766685;2109825;2123489;2133362 D20S1122;DXS8093;G59300;RH70925;RH79909;SF3A3_9201;SHGC-149969;SHGC-74617 PRP9;PRPF9;SAP 61;SAP61;SF3a60 OTTHUMP00000004730;pre-mRNA splicing factor SF3a (60kD);spliceosome associated protein 61;spliceosome-associated protein 61;splicing factor 3A subunit 3;splicing factor 3a, subunit 3, 60kD APPROVED protein-coding HGNC:10767 10411 605596 REVIEWED 1318101 SETDB1 SET domain, bifurcated 1 This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011] 1 1 1 q21 124014522 124052915 + 150898815 150937389 + 150926339 150964913 + 1580863;1359072;6480464;6484113;6907045;7242632 11959841;23200123 10343109;11252719;11791185;12398767;12421765;12477932;12869583;14536086;14611647;14702039;15231748;15327775;15383276;15489334;15691849;15899859;16097034;16169070;16344560;16567619;16682412;16710414;16713569;17066076;17142323;17577629;17952062;18029348;18082607;18498648;18501190;18781797;19061646;19124506;19394292;19471022;19498464;19884257;20331966;20383146;20936779;21139048;21170338;21243721;21252943;21430779;21693764;21890473;21900206;21921037;21963094;21983785;21988832;22082156;22110129;22405323;22939624;23055267;23770855;24056368;7584044 9869 B0QZE6;E9PAP1;E9PQM8;E9PRF4;E9PS59;Q15047;X6R732;X6RHV1 ABBA01049361;ABBA01049362;ABBA01049363;AI582266;AK095075;AK302461;AK308335;AL590133;AMYH02001868;AMYH02001869;BC009362;BC028671;CH471121;D31891;DA418593;DB062762;HC290201;HC290203;NM_001145415;NM_001243491;NM_012432;XM_005245641;XM_006711672 AAH09362;AAH28671;BAA06689;BAG63752;CBJ06473;CBJ06474;EAW53503;EAW53504;EAW53505;EAW53506;EAW53507;EAW53508;NP_001138887;NP_001230420;NP_036564;Q15047;XP_005245698;XP_006711735 Hs.643565 1654912;1664719;2108459;2131159;2156559;2157167;2176544;5037552 Cda0kh05;D1S2372;D1S3444;D8S2279;RH12118;RH68265;SETDB1_7959;SHGC-2406 ESET;H3-K9-HMTase4;KG1T;KIAA0067;KMT1E;TDRD21 ERG-associated protein with SET domain;ERG-associated protein with a SET domain, ESET;H3-K9-HMTase 4;OTTHUMP00000032929;OTTHUMP00000234730;OTTHUMP00000234731;histone H3-K9 methyltransferase 4;histone-lysine N-methyltransferase SETDB1;histone-lysine N-methyltransferase, H3lysine-9 specific 4;lysine N-methyltransferase 1E;tudor domain containing 21 APPROVED protein-coding ENSG00000143379 HGNC:10761 06828 604396 REVIEWED 1320131 SF3B4 splicing factor 3b, subunit 4, 49kDa This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq, Jul 2008] 1 1 1 q21.2 123011181 123015672 - 149895209 149901449 - 149923317 149929322 - 1580863;6480464;6907045;7240710;8554872;8699517 10490618;10882114;11101529;11500380;12226669;12234937;12477932;12738865;14667819;14702039;15146077;15351706;15456888;15489334;15576338;15592455;16009940;16055720;16159877;16189514;16236267;16344560;16751776;16923959;17332742;17347016;17353931;17474147;17513295;18391951;18654987;18781797;19275585;19850743;20012529;20360068;20811636;20881960;21139048;21145461;21988832;22365833;22415777;22541558;22939629;23000965;23125841;23568615;23602568;23824909;24003905;24457600;24654937;7958871;8125298;9731529 10262 B3KUJ0;Q15427;Q5SZ64 ABBA01049314;AC239868;AI925089;AK097315;AK223322;AK310495;AL590487;AL591493;BC004273;BC013886;BC090883;BM460550;CH471121;DA535996;L35013;NG_032777;NM_005850;XM_005277331 AAA60300;AAH04273;AAH13886;AAH90883;ABM83897;ABM87219;ABW03550;BAD97042;BAG53452;CAI12553;CAI12554;CAI12647;CAI12648;EAW53595;NP_005841;Q15427;XP_005277388 Hs.516160 1664999;1793058;2108907;2131429;2218430 CRA_4632;PMC193924P1;RH36569;RH69043;SF3B4_9078 AFD1;Hsh49;MGC10828;SAP 49;SAP49;SF3b49;SF3b50 OTTHUMP00000014064;pre-mRNA splicing factor SF3b 49 kDa subunit;pre-mRNA-splicing factor SF3b 49 kDa subunit;spliceosomal protein;spliceosome-associated protein (U2 snRNP);spliceosome-associated protein 49;splicing factor 3B subunit 4;splicing factor 3b, subunit 4, 49kD APPROVED protein-coding ENSG00000143368 HGNC:10771 12028 154400;605593 REVIEWED 1346641 SF3B1 splicing factor 3b, subunit 1, 155kDa This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 2 q33.1 192012574 192055648 - 198256698 198299815 - 197391974 197435091 - 1580863;6480464;6907045;8699517;7240710;8554872 10490618;10688664;10737800;10882114;11101529;11406595;11500380;11991638;12105215;12226669;12234937;12477932;12549820;12738865;14702039;14730023;15146077;15231748;15302935;15456888;15840729;15848144;16051665;16055720;16216881;16335966;16376933;16512921;16603771;16790528;16964243;17081983;17332742;17353931;17403666;17620599;17803295;17931603;18076038;18173839;18457437;18559850;18842582;18854154;18974054;19454010;19471022;19596686;19738201;19805454;19850743;20305087;20360068;20462248;20936779;20972266;21081666;21139048;21145461;21182205;21252943;21693764;21886174;21890473;21900206;21906983;21963094;21987572;21995386;21998214;22039264;22064353;22064355;22096241;22113938;22158541;22178446;22268729;22323480;22365833;22461140;22496461;22505724;22586326;22738114;22751105;22797925;22826563;22921018;22929973;22939629;23000965;23084401;23113893;23125841;23138133;23151878;23160465;23184937;23243274;23280334;23300182;23313955;23335386;23337928;23395771;23435461;23531595;23558524;23568491;23594705;23594796;23620080;23685408;23694694;23793026;23831919;23861464;24052622;24113472;24141330;24147044;24250222;24332808;24434863;24457600;24550385;24583282;24591637;24639526;24652989;24723457;24795046;24816145;24927141;24970262;24984263;25027693;8619474;9110174;9585501;9671485;9891079 23451 A0JLT9;B4DGZ4;F8WC19;H7C341;O75533;Q7Z497 ABBA01062473;ABBA01062474;ABBA01062475;AC010746;AF054284;AF070540;AF086296;AK057684;AK290470;AK294851;AK308122;AL137410;AMYH02005519;AMYH02005520;BC015530;BC029418;BC039020;BC046140;BC056155;BC064335;BC107883;BE168220;CD692669;CH471063;NG_032903;NM_001005526;NM_012433;XM_005246428;XR_241300;XR_241301;XR_241302 AAC28633;AAC97189;AAH15530;AAH29418;AAH56155;AAI07884;BAF83159;BAG57955;CAB70728;EAW70146;NP_001005526;NP_036565;O75533;XP_005246485 Hs.632554 1649161;1712208;1723827;1853731;2190545;2190913;2191151;5121767;5491991 A006O45;D2S1533E;EST23H7;G54156;MARC_11487-11488:1000830916:1;MARC_15343-15344:1013437555:1;RH118649;RH66152;SF3B1-1 Hsh155;MDS;PRP10;PRPF10;SAP155;SF3b155 OTTHUMP00000205700;OTTHUMP00000205702;OTTHUMP00000225001;OTTHUMP00000225002;SAP 155;pre-mRNA processing 10;pre-mRNA splicing factor SF3b, 155 kDa subunit;pre-mRNA-splicing factor SF3b 155 kDa subunit;spliceosome associated protein 155;spliceosome-associated protein 155;splicing factor 3B subunit 1;splicing factor 3b, subunit 1, 155kD APPROVED protein-coding ENSG00000115524 HGNC:10768 09281 605590;614286 REVIEWED 1347608 SF3B4P1 splicing factor 3b, subunit 4 pseudogene 1 14 14 14 q23.3 47724815 47726324 + 67665758 67667277 + 67199041 67200560 + 326276 ABBA01023719;AL135978;AMYH02029395;NG_002536 1793058 PMC193924P1 SF3B4P APPROVED pseudo HGNC:19821 INFERRED 1345762 SF3B5 splicing factor 3b, subunit 5, 10kDa INVOLVED IN gene expression (inferred); mRNA splicing, via spliceosome (inferred); RNA splicing (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN nucleus; U12-type spliceosomal complex; INTERACTS WITH bisphenol A; cobalt dichloride; copper(2+) sulfate 6 6 6 q24.2 145156476 145157212 - 144416018 144416754 - 144094881 144095617 - 1580863;6480464;6907045 11076863;11256614;12226669;12234937;12477932;14574404;15146077;15489334;15489336;16159877;16341674;16381901;17332742;20360068;21139048;21890473;21963094;22053931;22505724;22939629;23602568 83443 Q9BWJ5 ABBA01025741;AK074417;AK312079;AL031390;AMYH02014641;BC000198;BK000562;BM823656;CH471051;NM_031287 AAH00198;BAG35015;CAL37949;DAA00073;EAW47851;NP_112577;Q9BWJ5 Hs.110695 1643842;2138581 RH41837;SGC31952 MGC3133;SF3b10;Ysf3 OTTHUMP00000017343;pre-mRNA-splicing factor SF3b 10 kDa subunit;splicing factor 3B subunit 5 protein-coding ENSG00000169976 HGNC:21083 18042 VALIDATED 1602118 SF3B6 splicing factor 3b, subunit 6, 14kDa This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. [provided by RefSeq, Jul 2008] 2 2 2 p23 24130785 24139642 - 24290454 24299314 - 24067584 24076444 - 6480464;6907045;8554872 10810093;10931946;11042152;11329013;11500380;12226669;12234937;12477932;12738865;15146077;15489334;15592455;15635413;16432215;17332742;17353931;19167051;19738201;19773279;20360068;21139048;21145461;21832049;21890473;21906983;21963094;21987572;22365833;22505724;22623428;22939629;23000965;23398456;24457600;24550385 51639 Q9Y3B4 ABBA01045101;ABBA01045102;AC008073;AF151868;AF161523;AF184213;AF401310;AK000621;AK311118;AK311908;AMYH02003410;BC015463;BG200650;CH471053;NM_016047 AAD34105;AAF29138;AAG09698;AAH15463;AAK94041;AAY14664;ADZ15691;BAG34849;EAX00767;NP_057131;Q9Y3B4 Hs.177861 1661371;1676508;2147105 RH16180;RH69280;SGC34447 CGI-110;HSPC175;Ht006;P14;SAP14;SAP14a;SF3B14;SF3B14a OTTHUMP00000155154;SF3b 14 kDa subunit;pre mRNA branch site protein p14;pre-mRNA branch site protein p14;spliceosome-associated protein, 14 kDa subunit;spliceosome-associated protein, 14-kDa;splicing factor 3B subunit 6;splicing factor 3B, 14 kDa subunit APPROVED protein-coding ENSG00000115128 HGNC:30096 09702 607835 REVIEWED 1323197 SF3B3 splicing factor 3b, subunit 3, 130kDa This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 54916621 54970452 - 70557691 70611571 + 70523788 70577668 + 1580863;6480464;6907045;8554872 10428969;10490618;11013263;11406595;11438666;11500380;11564863;11991638;12029088;12226669;12234937;12477932;12601814;12938929;14559993;14702039;15146077;15324660;15489334;15848144;16055720;16159877;16169070;16196087;17332742;17353931;17620599;17643375;18274552;18781797;19019082;19454010;20360068;20379614;20946988;20972266;21081666;21139048;21145461;21319273;21549307;21642987;21890473;21900206;21906983;21963094;21988832;22053931;22178446;22268729;22365833;22751105;22939624;22939629;23000965;23084401;23463506;23951410;23974796;24332808;24457600;24583282;24591637;24639526;24654937;24816145;25027693;25036637;7584026;7584028;8889548 23450 A8K6V3;H3BMB0;I3L4G7;J3QKV4;J3QL37;J3QRB2;Q15393 ABBA01010655;ABBA01010656;ABBA01010657;AC106804;AJ001443;AK001297;AK074933;AK291768;AL110251;AMYH02032307;AW449427;BC000463;BC003146;BC009780;BC068974;BI465052;CB241776;CH471241;D13642;D87686;NM_012426 AAH00463;AAH03146;AAH09780;AAH68974;ADZ15869;BAA02805;BAA32662;BAF84457;BAG50889;BAG52033;CAB53699;CAB56791;EAW51803;EAW51804;EAW51805;NP_036558;Q15393 Hs.514435 1651200;1671075;1685009;1690258;1789254;1849891;2106601;5016478;5037552 D16S3312;D8S2279;G65634;GDB:434012;RH25256;RH64904;SF3B3__5388;SHGC-61444;STS-AA007595 KIAA0017;RSE1;SAP130;SF3b130;STAF130 OTTHUMP00000174907;SAP 130;pre-mRNA splicing factor SF3b, 130 kDa subunit;pre-mRNA-splicing factor SF3b 130 kDa subunit;spliceosome-associated protein 130;splicing factor 3B subunit 3;splicing factor 3b, subunit 3, 130kD APPROVED protein-coding ENSG00000189091 HGNC:10770 12027 605592 REVIEWED 1316185 SF3B2 splicing factor 3b, subunit 2, 145kDa This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 63144519 63161089 + 65819264 65836382 + 66051793 66068911 + 1580863;6480464;6907045;8554872 10490618;10882114;11101529;11287586;11500380;11991638;12226669;12234937;12477932;12634307;14651998;15146077;15302935;15456888;15635413;16055720;16159877;16189514;16571786;16923959;17081983;17332742;17347016;17353931;17403666;17620599;17643375;18029348;18275585;18457437;18781797;18854154;19275585;19329795;19471022;20012529;20360068;20467438;20682791;20696395;21081666;21139048;21145461;21549307;21693764;21832049;21890473;21900206;21906983;21926972;21963094;22113938;22178446;22268729;22323290;22365833;22415777;22505724;22586326;22751105;22939629;22944692;23000965;23084401;23125841;23184937;23443559;23455924;23752268;24250222;24332808;24457600;24550385;24583282;24591637;24778252;24816145;7958871;8566756;9601606;9731529 10992 E9PIL8;E9PJ04;E9PJT3;E9PPJ0;H0YCG1;H0YEX5;Q13435 ABBA01024092;AK126488;AK290850;AK300016;AMYH02024970;AP006287;BC000401;BC007610;BC014125;BC051237;BC053577;BE677116;BF311442;BX537771;CH471076;NM_006842;U41371;XM_005273726 AAA97461;AAH00401;AAH07610;AAH14125;AAH53577;ADZ15333;BAF83539;BAG61831;CAD97834;EAW74491;EAW74492;EAW74493;EAW74494;EAW74495;EAW74496;EAW74497;EAW74498;EAW74499;EAW74500;EAW74501;NP_006833;Q13435;XP_005273783 Hs.406423 5016781;5118444;5491605 D11S3316;MARC_24069-24070:1030027541:1;SHGC-67307 Cus1;SAP145;SF3B145;SF3b1;SF3b150 OTTHUMP00000234151;OTTHUMP00000234152;SAP 145;pre-mRNA splicing factor SF3b 145 kDa subunit;pre-mRNA-splicing factor SF3b 145 kDa subunit;spliceosome associated protein 145;spliceosome-associated protein 145;splicing factor 3B subunit 2;splicing factor 3b, subunit 2, 145kD APPROVED protein-coding ENSG00000087365 HGNC:10769 10410 605591 REVIEWED 1347866 SETX senataxin This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008] 9 9 9 q34.13 105678763 105772221 - 135136827 135232113 - 132261440 132356726 - 1580863;6480464;7240710;8554872;8699517 11022012;12477932;14702039;14770181;15106121;15164053;15174051;15489334;15732101;16524884;16717225;16964243;17081983;17096168;17562789;17593543;18350359;18405395;19058054;19141356;19471022;19515850;19569000;19593598;19744353;20301317;20301333;20301623;20379614;20800603;20936779;21112256;21139048;21190393;21252943;21324166;21576111;21693764;21700224;21906983;21963094;21987572;22088787;22505724;22577233;22980978;23000965;23129421;23149945;23566282;23786967;23941260;24105744;24244371;24694197;8125298;8889548;9497266;9734811 23064 Q7Z333;X6RI79 AB014525;ABBA01032489;ABBA01032490;AK001456;AK022902;AK024331;AK025601;AK125448;AK226007;AK302394;AK307608;AL159997;AL353701;AMYH02021805;AMYH02021806;AY362728;BC032600;BC032622;BC078166;BC106017;BC137350;BM718142;BX537849;BX538166;CH471090;CR749249;NG_007946;NM_015046;XM_005272171;XM_005272172;XM_005272173 AAH32600;AAH32622;AAH78166;AAI06018;AAI37351;AAR13367;BAA31600;BAA91701;BAB14299;BAC86166;BAG63708;CAD97857;CAD98045;CAH18105;EAW87997;EAW87998;EAW87999;EAW88000;NP_055861;Q7Z333;XP_005272228;XP_005272229;XP_005272230 Hs.460317 1337349;1339677;1671116;1680230;1735948;1787004;1857520;2132595;2146462;7186178 A008M28;Cda1bc05;D9S1073E;D9S164;D9S1831;D9S1847;RH91796;SHGC-149376;SHGC-16732;WI-12222 ALS4;AOA2;DKFZp781B151;FLJ12840;FLJ43459;KIAA0625;SCAR1;bA479K20.2 OTTHUMP00000022428;OTTHUMP00000022429;SEN1 homolog;amyotrophic lateral sclerosis 4;probable helicase senataxin APPROVED protein-coding ENSG00000107290 HGNC:445 07622 602433;606002;608465 REVIEWED 1343140 SFMBT1 Scm-like with four mbt domains 1 This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012] 3 3 3 p21.1 52916400 53047177 - 52933221 53080089 - 52899205 53046655 - 1580863;6480464;8554872 10661410;12477932;15489334;16189514;16344560;17599839;21325761;21926972;21988832;22479346;23128233;23263486;23349461;23592795;23602568;23898208;23928305;23974872;24250222 51460 C9IY64;C9IZZ5;C9JWI3;Q9UHJ3 AB189472;ABBA01024495;ABBA01024496;ABBA01024497;AC096887;AC099667;AC103589;AF168132;AI206996;AK313965;AL080140;AL523328;AMYH02006815;AMYH02006816;AMYH02006817;AMYH02006818;AMYH02006819;BC014614;BG717319;BG723139;BM560104;BU553665;CH471055;CR981845;DB064119;DB070525;DB081417;DB085221;NM_016329;XM_005265221;XM_006713203;XM_006713204 AAF19794;AAH14614;ABM83787;ABM87109;BAE43835;BAG36680;CAB45734;EAW65271;EAW65272;EAW65273;NP_057413;Q9UHJ3;XP_005265278;XP_006713266;XP_006713267 Hs.343679 1708124;1719989;1775620;2109827;2120516;5491413 D3S4223;MARC_10469-10470:999704456:1;RH123971;RH46044;SFMBT1_9721;SHGC-81462 DKFZp434L243;RU1;SFMBT;hSFMBT OTTHUMP00000213927;Scm-related gene containing four mbt domains;Scm-related gene product containing four mbt domains;renal ubiquitous protein 1;scm-like with four MBT domains protein 1 APPROVED protein-coding ENSG00000163935 HGNC:20255 09539 607319 REVIEWED 1349613 SFPQP1 splicing factor proline/glutamine-rich (polypyrimidine tract binding protein associated) pseudogene 1 X Y Y q11.1 2200169 2203086 + 15206718 15209635 + 13094804 13097721 + 12815422 23758 ABBA01065572;AC005820;AC244170;NG_002816 SFPQP splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) pseudogene APPROVED pseudo HGNC:10775 INFERRED 1346504 SF1 splicing factor 1 This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence and is required for the early stages of spliceosome assembly. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 11 11 11 q13 61858574 61872815 - 64532076 64546515 - 64764604 64778844 - 6480464;7240710 10449420;11467860;11574675;11604498;11691992;12176931;12477932;12718882;12917325;1406644;15302935;15456888;15489334;15647371;16002533;16055720;16189514;16595694;16964243;17081983;17332742;17383426;18029348;18285458;18305892;18974054;19738201;20133449;21062807;21139048;21145461;21146534;21360626;21505248;21768215;21890473;21906983;21987572;22053931;22365833;22412018;22623428;22863883;22906951;22927646;22939629;22987798;23000965;23151878;23165333;23273425;23275563;23349634;23450049;23537609;23891004;24321386;24457600;24654937;24816145;7912130;8668206;8752089;9150140;9192847;9506990;9512519;9573336;9660765;9731529 7536 B4DX42;C9J792;F8WEG7;F8WEV5;H7BZT1;H7C0N4;H7C561;Q15637 ABBA01024146;ABBA01024147;AI492561;AJ000051;AJ000052;AK293753;AK296237;AK299705;AK301803;AMYH02024941;AMYH02024942;AP001462;BC000773;BC008080;BC008724;BC011657;BC020217;BC032676;BC034451;BC038446;BC069273;BQ230035;BU624935;BX095574;CH471076;D26120;D26121;D26122;DC368015;DC370979;L49345;L49380;NG_021399;NM_001178030;NM_001178031;NM_004630;NM_201995;NM_201997;NM_201998;NR_033649;NR_033650;XM_006718681;XM_006718682;XM_006718683;XM_006718684;XM_006718685;Y08765;Y08766 AAB03514;AAB04033;AAH00773;AAH08080;AAH08724;AAH20217;AAH38446;ACE87042;ACE87725;BAA05116;BAA05117;BAA05118;BAA05119;BAG58956;BAG61606;BAG63254;BAH11587;CAA03883;CAA70018;CAA70019;EAW74286;EAW74287;EAW74288;EAW74289;EAW74290;EAW74291;EAW74292;EAW74293;EAW74294;EAW74295;EAW74296;EAW74297;NP_001171501;NP_001171502;NP_004621;NP_973724;NP_973726;NP_973727;Q15637;XP_006718744;XP_006718745;XP_006718746;XP_006718747;XP_006718748 Hs.502829 1670632;1682101;1775543;1778750;1799424;1799426;1799516;1799838;1799840;1800726;1802342;1802654;1802702;1804102;1805698;1807590;1808792;1809748;1818346;1843708;1970954;1970956;1970958;1970960;1970962;1970964;1970966;1970968;1970970;1970972;1970974;1970976;1970978;1970980;1970982;1970984;1970986;1970988;1970990;1970992;1970994;1970996;1970998;1971000;1971002;1971004;1971006;1971008;1971010;1971012;1971014;1971016;1971018;1971020;1971022;1971024;1971026;1971028;1971030;1971032;1971034;1971036;1971038;1971040;1971042;1971044;1971046;1971048;1971050;1971052;1971054;1971056;1971058;1971060;1971062;1971064;1971066;1971068;1971070;1971072;1971074;1971076;1971078;1971080;1971082;1971084;1971086;1971088;1971090;2121924;2147546;2178723;2214890;2214892;2214894;2214896;2214898;2214900;2214902;2214904;2214906;2214908 D11S4328;D11S4350;ECD00563;ECD00564;ECD00610;ECD00773;ECD00774;ECD01224;ECD02055;ECD02214;ECD02238;ECD02969;ECD03799;ECD04767;ECD05379;ECD05866;ECD10230;ECD23065;G33087;REN56360;REN56361;REN56362;REN56363;REN56364;REN56365;REN56366;REN56367;REN56368;REN56369;REN56370;REN56371;REN56372;REN56373;REN56374;REN56375;REN56376;REN56377;REN56378;REN56379;REN56380;REN56381;REN56382;REN56383;REN56384;REN56385;REN56386;REN56387;REN56388;REN56389;REN56390;REN56391;REN56392;REN56393;REN56394;REN56395;REN56396;REN56397;REN56398;REN56399;REN56400;REN56401;REN56402;REN56403;REN56404;REN56405;REN56406;REN56407;REN56408;REN56409;REN56410;REN56411;REN56412;REN56413;REN56414;REN56415;REN56416;REN56417;REN56418;REN56419;REN56420;REN56421;REN56422;REN56423;REN56424;REN56425;REN56426;REN56427;REN56428;RH91433;SHGC-35223;STS-D26120;ZNF162;stSG635670;stSG635671;stSG635672;stSG635673;stSG635674;stSG635675;stSG635676;stSG635677;stSG635678;stSG635681 BBP;D11S636;MBBP;ZCCHC25;ZFM1;ZNF162 OTTHUMP00000069749;OTTHUMP00000069750;OTTHUMP00000069751;OTTHUMP00000069752;OTTHUMP00000069753;OTTHUMP00000196697;mammalian branch point-binding protein;transcription factor ZFM1;zinc finger gene in MEN1 locus;zinc finger protein 162 APPROVED protein-coding ENSG00000168066 HGNC:12950 03306 601516;612964;612965;613957 REVIEWED 1343285 SFPQ splicing factor proline/glutamine-rich ENCODES a protein that exhibits histone deacetylase binding; poly(A) RNA binding; transcription regulatory region DNA binding; INVOLVED IN alternative mRNA splicing, via spliceosome; negative regulation of transcription from RNA polymerase II promoter; positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway; FOUND IN chromatin; nuclear matrix; nucleoplasm; INTERACTS WITH 17beta-estradiol; afimoxifene; all-trans-retinoic acid 1 1 1 p34.3 33923595 33933137 - 35641981 35658766 - 35176380 35193157 - 1580863;6480464 10653975;10847580;10858305;10931916;11060040;11101529;11161712;11259580;11514619;11525732;11790298;11897684;12403470;12417296;12477932;12840015;12938929;12944487;14559993;15140795;15231747;15231748;15576338;15590677;15635413;15668243;15782174;15790595;15848144;15975576;16024807;16055720;16159877;16169070;16196087;16417406;16731528;16832349;16938326;17081983;17318576;17361185;17452459;17507659;17537995;17620599;17639083;17803295;17965020;18042045;18239623;18445785;18457437;18655028;18689799;18781797;19135240;19144721;19322201;19339282;19380743;19447914;19471022;19535458;19542561;19596686;19738201;19809274;19812236;19850743;19874820;19928837;20360068;20371701;20421735;20508642;20605917;20639865;20811636;20932480;20936779;21080425;21081666;21106524;21139048;21144806;21145461;21252943;21319273;21499250;21566083;21670149;21693764;21881826;21890473;21906983;21987572;21988832;22113938;22114566;22145905;22156371;22174317;22178446;22213094;22446626;22558197;22586326;22623428;22751105;22939629;23000965;23125841;23131771;23158102;23314748;23398456;23463506;23516550;23618401;23862649;24147044;24244333;24288667;24332808;24337577;24457600;24507715;24550385;24583282;24591637;2480877;24816145;25015289;25025966;25027693;8045264;8439294;8449401;8766827;9393982;9409622;9756848;9848648 6421 H0Y9K7;H0Y9U2;P23246;Q86VG2 ABBA01023352;AK307985;AL590434;AL831889;AL833670;AMYH02000756;BC000546;BC004534;BC027708;BC027717;BC051192;BX537811;CH471059;NM_005066;X16850;X70944;XM_005271111;XM_005271112;XM_005271113;XM_005271115;XM_005271116 AAH04534;AAH27708;AAH51192;CAA34747;CAA50283;EAX07421;EAX07422;EAX07423;EAX07424;EAX07425;EAX07426;NP_005057;P23246;XP_005271168;XP_005271169;XP_005271170;XP_005271172;XP_005271173 Hs.355934;Hs.611911 1651261;1791284;2117178;2120746;2145886;2154225 MARC_9965-9966:996688719:1;RH18090;RH78190;SHGC-30279;SHGC-74566;WI-7518 DKFZp547C228;DKFZp667K0521;DKFZp686K1282;POMP100;PPP1R140;PSF 100 kDa DNA-pairing protein;DNA-binding p52/p100 complex, 100 kDa subunit;OTTHUMP00000004329;PTB-associated splicing factor;PTB-associated-splicing factor;hPOMp100;polypyrimidine tract binding protein associated;polypyrimidine tract-binding protein-associated splicing factor;polypyrimidine tract-binding protein-associated-splicing factor;splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated);splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated);splicing factor, proline- and glutamine-rich APPROVED protein-coding ENSG00000116560 HGNC:10774 07284 605199 VALIDATED 1313532 SFR1 SWI5-dependent recombination repair 1 INVOLVED IN double-strand break repair via homologous recombination; FOUND IN Swi5-Sfr1 complex; nucleus (ortholog); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 10 10 10 q25.1 99622685 99627012 + 105880059 105886143 + 104120301 104126385 + 737633;6480464 12477932 10409428;15164054;15489334;16385451;17043677;20976249;21252223;21779174;21906983;23551011;23874500;24250222 119392 Q86XK3 ABBA01063087;AK123954;AK291184;AL357336;AMYH02023733;BC020892;BC043256;BC047587;BC140835;BE960638;BG942691;CD694866;CH471066;NM_001002759;NM_145247;XM_005269521;XM_005269522;XM_005269524 AAH20892;AAI40836;BAF83873;EAW49610;EAW49611;NP_001002759;NP_660290;Q86XK3;XP_005269578;XP_005269579;XP_005269581 Hs.93667 5122647 RH78802 C10orf78;FLJ41960;MEI5;MEIR5;RP11-373N18.1;bA373N18.1 MEI5 recombination repair protein homolog;OTTHUMP00000020427;OTTHUMP00000020428;SWI5-dependent recombination repair protein 1;hypothetical protein LOC119392;meiosis protein 5 homolog;swi5-dependent recombination DNA repair protein 1 homolog APPROVED protein-coding ENSG00000156384 HGNC:29574 12590 VALIDATED 1312341 SFN stratifin ENCODES a protein that exhibits phosphoprotein binding (inferred); protein domain specific binding (inferred); protein kinase binding (inferred); INVOLVED IN intrinsic apoptotic signaling pathway in response to DNA damage; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; release of cytochrome c from mitochondria; PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; mTOR signaling pathway; phosphatidylinositol 3-kinase-Akt signaling pathway; ASSOCIATED WITH Carcinoma in Situ; Carcinoma, Transitional Cell; Endometrial Neoplasms; FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH (Z)-3-butylidenephthalide; 17beta-estradiol; 2,3-dimethoxynaphthalene-1,4-dione 1 1 1 p36.11 25586728 25588042 + 27189633 27190947 + 26863142 26864456 + 1580863;2299930;2292009;2299931;2299928;2299929;2299933;2299936;6480464;6484113;6907045 11896620;15102672;16271083;16682214;16773180;16964403;18452837 10524633;10767298;11574543;11697890;11886850;11896572;11917136;12075357;12364343;12433946;12438239;12477932;12582028;12730237;12787309;12816952;1286667;12919677;1390337;14505491;14517281;14568170;15023544;15131044;15140222;15166223;15173315;15184053;15187095;15260850;15282546;15292943;15324660;15367659;15467455;15482563;15489334;15489902;15574328;15654940;15654971;15696159;15731107;15778465;15791647;15857577;15857578;15867223;16009130;16041367;16045749;16093354;16098031;16099816;16189514;16229802;16243811;16505098;16511560;16511572;16532026;16581770;16648560;16710414;16786000;16797759;16799092;16814250;16888623;16902409;16953367;16964243;17222803;17359284;17361185;17388661;17391729;17443672;17546054;17672938;17786288;17786341;17982629;18029348;18036248;18036402;18379196;18382127;18440129;18452139;18806827;18936350;18950492;19047086;19056867;19160382;19166854;19172738;19231067;19271751;19380743;19473536;19502805;19513498;19528459;19626586;19642975;19664078;19685192;19729831;19828132;19961842;20020773;20093232;20108042;20336542;20388496;20478393;20487521;20618440;20811675;20823509;20843328;20976731;21040574;21048031;21115893;21139048;21182205;21239874;21249227;21416292;21625211;21654836;21755566;21870863;21890473;21906983;21918011;21933426;21963094;21987572;21988832;22053931;22178446;22192357;22222486;22304920;22315133;22315970;22329840;22399611;22422640;22505724;22588126;22634725;22706160;22863883;22984265;23000965;23312294;23370648;23444366;23687381;23752268;24030981;24124604;24201220;24234332;8515476;9659898 2810 P31947 ABBA01034932;AF029081;AF029082;AL034380;AMYH02000580;BC000329;BC000995;BC001550;BC002995;BC023552;CH471059;CR541905;CR541926;M93010;NM_006142 AAA59546;AAC52029;AAC52030;AAH00329;AAH00995;AAH01550;AAH02995;AAH23552;ABM85088;CAG46703;CAG46724;EAX07786;EAX07787;NP_006133;P31947 Hs.523718 1792402;1793010;1793012;1793014;2129330;2145331;5022331 G06573;G15869;PMC150720P3;PMC18556P1;PMC18556P2;PMC18556P3;SHGC-74449 14-3-3 protein sigma;14-3-3 sigma;OTTHUMP00000004242;YWHAS;epithelial cell marker protein 1 protein-coding ENSG00000175793 HGNC:10773 03185 601290 VALIDATED 1347387 SFI1 Sfi1 homolog, spindle assembly associated (yeast) ENCODES a protein that exhibits phosphatase binding; INVOLVED IN negative regulation of phosphatase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoskeleton (inferred); cytosol (inferred); INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 22 22 22 q12.2 15692769 15814976 + 31892125 32014537 + 31496139 31618551 + 6480464;8554872 11076968;11101529;12221128;12477932;12852856;14504268;14702039;16009131;16189514;16344560;16462731;16956364;19389623;19857500;22082156;24250222;7790358;9628581 9814 A8K8P3;D3YTJ2;E5RJU6;F8WBU4;H0Y5I7;H0Y836;H7BZF3;H7C2F1;X6RJF9 AB011114;ABBA01055333;ABBA01055334;ABBA01055335;ABBA01055336;ABBA01055337;ABBA01055338;ABBA01055339;ABBA01055340;ABBA01055341;AI141022;AK055147;AK097004;AK292408;AK293987;AK303362;AL096701;AL096768;AL109802;AL708501;AMYH02038239;AMYH02038240;AMYH02038241;AMYH02038242;AMYH02038243;AMYH02038244;AMYH02038245;AMYH02038246;BC021576;BC033613;BC041101;BC046221;BC110814;BC129926;BC129945;CH471095;DA202472;DA391957;DA534059;DC369327;DC369842;NM_001007467;NM_001258325;NM_001258326;NM_001258327;NM_014775;XM_005261868;XM_005261869;XM_005261870;XM_005261871;XM_005261872;XM_005261873;XM_005261874;XM_006724388;XM_006724389;XM_006724390 A8K8P3;AAH21576;AAI10815;AAI29927;AAI29946;BAA25468;BAF85097;BAH11642;BAH13949;EAW59980;EAW59981;EAW59982;EAW59983;NP_001007468;NP_001245254;NP_001245255;NP_001245256;NP_055590;XP_005261925;XP_005261926;XP_005261927;XP_005261928;XP_005261929;XP_005261930;XP_005261931;XP_006724451;XP_006724452;XP_006724453 Hs.62209;Hs.742373 1662857;1721425;1798968;1804268;1804756;1805170;1805844;1806928;1807208;1807604;1807742;1809764;1810410;1810974;1811440;1811520;1813952;1814180;1816108;1817372;1817594;1818358;1818566;1819004;1819502;1820466;1820766;1822084;1823644;1825578;1827120;1827122;1827206;1827300;1828856;1830178;1830338;1831078;1832016;1832758;1832974;1833186;1833248;1834442;1834858;1835638;1837906;1838036;1838574;1838618;1839408;1839514;1839516;1840944;1841552;1842034;1842386;1842634;1843138;1843396;1843714;1844134;1844136;1844442;1844624;1845488;1845996;1846224;1858578;2006526;2006528;2006530;2006532;2006534;2006536;2006538;2006540;2006542;2006544;2006546;2006548;2006550;2006552;2006554;2006556;2006558;2006560;2006562;2006564;2006566;2006568;2006570;2006572;2006574;2006576;2006578;2006580;2006582;2006584;2006586;2006588;2006590;2006592;2006594;2006596;2006598;2006600;2006602;2006604;2006606;2006608;2006610;2006612;2006614;2006616;2006618;2006620;2006622;2006624;2006626;2006628;2006630;2006632;2006634;2006636;2006638;2006640;2006642;2006644;2006646;2006648;2006650;2006652;2006654;2006656;2006658;2006660;2006662;2006664;2006666;2006668;2006670;2006672;2006674;2006676;2006678;2006680;2006682;2006684;2006686;2006688;2006690;2006692;2006694;2006696;2006698;2006700;2006702;2006704;2006706;2006708;2006710;2006712;2006714;2006716;2006718;2006720;2006722;2006724;2006726;2006728;2006730;2006732;2006734;2006736;2006738;2006740;2006742;2006744;2006746;2006748;2006750;2006752;2006754;2006756;2006758;2006760;2006762;2006764;2006766;2006768;2006770;2006772;2006774;2006776;2006778;2006780;2006782;2006784;2006786;2006788;2006790;2006792;2006794;2006796;2006798;2006800;2006802;2006804;2006806;2006808;2006810;2006812;2006814;2006816;2006818;2006820;2006822;2006824;2006826;2006828;2006830;2006832;2006834;2006836;2006838;2006840;2006842;2006844;2006846;2006848;2006850;2006852;2006854;2006856;2006858;2006860;2006862;2006864;2006866;2006868;2006870;2006872;2006874;2006876;2006878;2006880;2006882;2006884;2006886;2006888;2006890;2006892;2006894;2006896;2006898;2006900;2006902;2006904;2006906;2006908;2006910;2006912;2006914;2006916;2006918;2006920;2006922;2006924;2006926;2006928;2006930;2006932;2006934;2006936;2006938;2006940;2006942;2006944;2006946;2006948;2006950;2006952;2006954;2006956;2006958;2006960;2006962;2006964;2006966;2006968;2006970;2006972;2006974;2006976;2006978;2006980;2006982;2006984;2006986;2006988;2006990;2006992;2006994;2006996;2006998;2007000;2007002;2007004;2007006;2007008;2007010;2007012;2007014;2007016;2007018;2007020;2007022;2007024;2007026;2007028;2007030;2007032;2007034;2007036;2007038;2007040;2007042;2007044;2007046;2007048;2007050;2007052;2007054;2007056;2007058;2007060;2007062;2007064;2007066;2007068;2007070;2007072;2007074;2007076;2007078;2007080;2007082;2007084;2007086;2007088;2007090;2007092;2007094;2007096;2007098;2007100;2007102;2007104;2007106;2007108;2007110;2007112;2007114;2007116;2007118;2007120;2007122;2007124;2007126;2007128;2007130;2007132;2007134;2007136;2007138;2007140;2007142;2007144;2007146;2007148;2007150;2007152;2007154;2007156;2007158;2007160;2007162;2007164;2007166;2007168;2007170;2007172;2007174;2007176;2007178;2007180;2007182;2007184;2007186;2007188;2007190;2007192;2007194;2007196;2007198;2007200;2007202;2007204;2007206;2007208;2007210;2007212;2007214;2007216;2007218;2007220;2007222;2007224;2007226;2007228;2007230;2007232;2007234;2007236;2007238;2007240;2007242;2007244;2007246;2007248;2007250;2007252;2007254;2007256;2007258;2007260;2007262;2007264;2007266;2007268;2007270;2007272;2007274;2007276;2007278;2007280;2007282;2007284;2007286;2007288;2007290;2007292;2007294;2007296;2007298;2007300;2007302;2007304;2007306;2007308;2007310;2007312;2007314;2007316;2007318;2007320;2007322;2007324;2007326;2007328;2007330;2007332;2007334;2007336;2007338;2007340;2007342;2007344;2007346;2007348;2007350;2007352;2007354;2007356;2007358;2007360;2007362;2007364;2007366;2007368;2007370;2007372;2007374;2007376;2007378;2007380;2007382;2007384;2007386;2007388;2007390;2007392;2007394;2007396;2007398;2007400;2007402;2007404;2007406;2007408;2007410;2007412;2007414;2007416;2007418;2007420;2007422;2007424;2007426;2007428;2007430;2007432;2007434;2007436;2007438;2007440;2007442;2007444;2007446;2007448;2007450;2097476;2097478;2097480;2097482;2097484;2097486;2097488;2097490;2097492;2097494;2097496;2097498;2097500;2097502;2097504;2097506;2097508;2097510;2097512;2097514;2097516;2097518;2097520;2097522;2097524;2097526;2097528;2097530;2097532;2097534;2097536;2097538;2097540;2097542;2097544;2097546;2097548;2097550;2097552;2097554;2097556;2097558;2097560;2097562;2097564;2097566;2097568;2097570;2097572;2097574;2097576;2097578;2097580;2097582;2097584;2097586;2097588;2097590;2097592;2097594;2097596;2097598;2097600;2097602;2097604;2097606;2097608;2097610;2097612;2097614;2097616;2097618;2097620;2129056 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02;stSG602103;stSG602104;stSG602105;stSG602106;stSG602107;stSG602108;stSG602110;stSG602111;stSG602112;stSG602113;stSG602114;stSG602115;stSG602116;stSG602117;stSG602118;stSG602119;stSG602122;stSG602123;stSG602124;stSG602125;stSG602126;stSG602127;stSG602128;stSG602129;stSG602130;stSG602131;stSG602132;stSG602133;stSG602134;stSG602135;stSG602136;stSG602137;stSG602138;stSG602139;stSG602141;stSG602142;stSG602143;stSG602144;stSG602145;stSG602147;stSG602151;stSG602152;stSG602153;stSG602154;stSG602155;stSG602156;stSG602157;stSG602158;stSG602159;stSG602160;stSG602162;stSG602163;stSG602164;stSG602165 MGC131712;MGC150663;MGC156283;MGC57874;PISD;PPP1R139;RP5-858B16.1;hSFI1;hSfi1p OTTHUMP00000028604;OTTHUMP00000195955;OTTHUMP00000206735;OTTHUMP00000206736;OTTHUMP00000208985;homolog of yeast Sfi1;protein SFI1 homolog protein-coding ENSG00000198089 HGNC:29064 11550 612765 VALIDATED 1345643 SFRP2 secreted frizzled-related protein 2 This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008] 4 4 4 q31.3 152026238 152034728 - 154701742 154710228 - 153780590 153789076 - 4107088;6480464;6907045;7365107 23085770 10072424;10654605;10980594;12055200;12477932;12975309;14561758;14702039;14709558;15094274;15146197;15340161;15489334;16303743;16407829;16609023;17081983;17352030;17410438;17471511;17639423;17848950;18029348;18079202;18404682;18497987;18528941;18592156;18795670;18990230;19095296;19299079;19389651;19453261;19458075;19513569;19593212;19926868;19946729;20030932;20208569;20403915;20501806;20596629;20602801;20682398;20686305;20723538;20795789;20811686;21174795;21409489;21463549;21490961;21709714;22136354;22175903;22246241;22363119;22915211;23215838;23226515;24464051;9096311;9391078;9642118;9853965 6423 B3KSM5;Q96HF1 AA449032;ABBA01070144;AC020703;AF017986;AF311912;AK075372;AK093922;AMYH02010324;AY359001;BC008666;BM906663;BM924815;BQ130455;CH471056;CN431016;HB436341;NM_003013 AAB70792;AAG24923;AAH08666;AAQ89360;BAG52124;BAG52787;CAZ76869;EAX04949;NP_003004;Q96HF1 Hs.481022 2108909;2120308;2162721 SFRP2_3264.2;SHGC-68208;STS-W72225 FRP-2;SARP-1;SARP1;SDF-5;sFRP-2 OTTHUMP00000220373;secreted apoptosis related protein 1;secreted apoptosis-related protein 1 APPROVED protein-coding ENSG00000145423 HGNC:10777 16041 604157 REVIEWED 1321235 SFRP5 secreted frizzled-related protein 5 Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq, Jul 2008] 10 10 10 q24.1 93263776 93269024 - 99526508 99531756 - 97766751 97771999 - 6480464;6907045;7365107;8554872 23085770 10072424;12477932;15164054;15489334;16609023;18356147;18497987;18528941;18592156;18795670;18981481;19299079;19586554;19926868;19957335;20795789;20811686;21830441;22384249;23009178;23054609;23185036;23215838;23290274;23653377;24374650;24416340;9096311;9391078;9642118 6425 Q5T4F7 ABBA01021789;ABBA01021790;AF017988;AF117758;AL358938;AMYH02023612;BC050435;CH471066;NM_003015 AAB70794;AAD25052;AAH50435;EAW49894;NP_003006;Q5T4F7 Hs.279565 1685528;1796758;5492281 RH71469;SFRP5_819;Sfrp5 FRP-1b;SARP-3;SARP3;sFRP-5 OTTHUMP00000020227;frizzled-related protein 1b;secreted apoptosis related protein 3;secreted apoptosis-related protein 3 APPROVED protein-coding ENSG00000120057 HGNC:10779 09166 604158 REVIEWED 1350997 SFRP4 secreted frizzled-related protein 4 Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008] 7 7 7 p14.1 37930244 37941234 - 37945534 37956525 - 37905932 37916923 - 4107721;6480464;6907045;7365107 20528676;23085770 10211996;10728394;11793365;12477932;12952927;14517837;14760084;15489334;15607035;15705870;16151791;16356838;16609023;17476687;18079202;18166153;18528941;18592156;18938133;18945944;19040566;19146776;19299079;19396169;19453261;19460752;19480240;19562778;19730886;20030932;20403915;20596629;20613673;20811686;21307090;21576276;21732829;21858178;22363760;22608881;22668815;23035359;23140642;23322712;23326605;9096311;9409757 6424 C9JMJ2;Q6FHJ7 ABBA01056921;ABBA01056922;AC018634;AF026692;AK302357;AK303977;AK313029;AMYH02015548;BC032828;BC047684;BC058911;BT019679;CH236951;CH471073;CR541731;CR541755;DQ420628;NM_003014 AAC04617;AAH47684;AAH58911;AAV38485;ABD83351;BAG63683;BAG64896;CAG46532;CAG46555;EAL23981;EAW94085;NP_003005;Q6FHJ7 Hs.658169 1796756 SFRP4_1609 FRP-4;FRPHE;MGC26498;sFRP-4 OTTHUMP00000128365;frizzled protein, human endometrium APPROVED protein-coding ENSG00000106483 HGNC:10778 07357 606570 REVIEWED 1322957 SF3A1 splicing factor 3a, subunit 1, 120kDa This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014] 22 22 22 q12.2 14527665 14552601 - 30727977 30752931 - 30331988 30356924 - 1580863;6480464;6907045;8554872 10385517;10591208;10882114;10976766;11013263;11101529;11337467;11500380;11533230;11991638;12226669;12234937;12477932;15302935;15316075;15456888;15461802;15489334;15527767;15592455;15647371;15761153;16055720;16751776;17081983;17098193;17332742;17353931;17643375;18029348;18854154;19471022;19615732;19850743;20360068;20379614;20562859;20639865;21081666;21139048;21145461;21349847;21693764;21890473;21906983;22113938;22174317;22178446;22314233;22365833;22586326;22751105;22797925;22863883;22939629;22990118;23000965;23084401;23151878;23184937;23752268;23870195;24332808;24457600;24550385;24657165;24816145;25092791;7489498;8022796;8718683;9731529;9847074 10291 F8WB66;F8WC79;H7C1L2;Q15459 ABBA01055293;AC004997;AI681052;AK098463;AK303273;AMYH02038214;AU100212;AV750569;BC001976;BC007684;BF965438;BI827130;BQ212479;BQ223575;BQ437843;BQ447452;CA440158;CH471095;CK300534;CR456575;DB445415;NG_032902;NM_001005409;NM_005877;X85237 AAC23435;AAH01976;AAH07684;ABM83613;ABM86857;BAG64353;CAA59494;CAG30461;CAK54605;CAK54904;EAW59878;EAW59879;NP_001005409;NP_005868;Q15459 Hs.406277;Hs.505597 1850396;2126420;2133676;2142641;2167040;2174645 D22S1559;RH17805;RH78161;STS-W73688;STS-X85237;WI-10121 PRP21;PRPF21;SAP114;SF3A120 OTTHUMP00000198919;SAP 114;pre-mRNA processing 21;pre-mRNA splicing factor SF3a (120 kDa subunit);spliceosome associated protein 114;spliceosome-associated protein 114;splicing factor 3 subunit 1;splicing factor 3A subunit 1;splicing factor 3a, subunit 1, 120kD APPROVED protein-coding ENSG00000099995 HGNC:10765 06903 605595 REVIEWED 1343304 SFT2D1 SFT2 domain containing 1 INVOLVED IN protein transport (inferred); vesicle-mediated transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; cyclosporin A 6 6 6 q27 167472881 167495356 - 166733516 166755991 - 166320028 166342503 - 6480464 12477932;14574404;15489334;18187620;21139048;24250222 113402 Q4G178;Q8WV19 ABBA01033445;AF041429;AL022069;AL121956;AMYH02014965;BC018969;BC028388;CH471051;CS072430;NM_145169 AAF18564;AAH18969;AAH28388;CAI93568;EAW47533;EAW47534;EAW47535;NP_660152;Q8WV19 Hs.487143 2149095 AL022460 C6orf83;MGC19825;pRGR1 OTTHUMP00000017595;SFT2 domain-containing protein 1;chromosome 6 open reading frame 83;vesicle transport protein SFT2A protein-coding HGNC:21102 12903 PROVISIONAL 1312773 SFSWAP splicing factor, suppressor of white-apricot family This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012] 12 12 12 q24.33 131812182 131900934 + 132195632 132284283 + 131711087 131799738 + 1580863;6480464 12477932;15302935;16738036;17081983;17353931;20379614;21145461;24816145;8206918;8940107 6433 F5H1A5;H0YFR9;Q12872;Q8IV81 AA410512;AB208921;ABBA01032805;ABBA01032806;AC117500;AC131009;AMYH02027565;AMYH02027566;AMYH02027567;AMYH02027568;BC008707;BC015953;BC024041;BC113420;BC136678;BC142980;BC144364;BM454299;CH471054;DB468124;NM_001261411;NM_004592;U08377;XM_006719558;XM_006719559 AAA19604;AAH08707;AAH15953;AAH24041;AAI36679;AAI42981;AAI44365;BAD92158;EAW98526;EAW98527;NP_001248340;NP_004583;Q12872;XP_006719621;XP_006719622 Hs.308171 1680337;1686506;1707180;1774777;1779300 RH80585;RH91231;SHGC-153300;SHGC-79174;STS-N20163 MGC167082;SFRS8;SWAP OTTHUMP00000238562;OTTHUMP00000238565;splicing factor, arginine/serine-rich 8;splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila);splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog);splicing factor, suppressor of white-apricot homolog;suppressor of white apricot protein homolog APPROVED protein-coding ENSG00000061936 HGNC:10790 09055 601945 REVIEWED 1605217 SFT2D2 SFT2 domain containing 2 INVOLVED IN protein transport (inferred); vesicle-mediated transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; phenobarbital 1 1 1 q24.2 141304278 141321113 + 168195255 168212088 + 168226017 168242850 + 6480464;8554872 12477932;12975309;14702039;15489334;16710414;17207965;19056867;19064610;19536175;21139048;21890473;21906983;22053931;23000965;24816145 375035 O95562;Q5TIH2 ABBA01047231;AK290325;AL009051;AL035297;AMYH02002102;AY358675;BC068098;CH471067;NM_199344 AAH68098;AAQ89038;ADQ32037;BAF83014;CAA22897;EAW90822;NP_955376;O95562 Hs.645435 1684656;1854467;2164998;5019843 A010B09;G33068;RH70401;RH77792 FLJ34085;RP4-747L4.1;UNQ512;dJ747L4.C1.2 OTTHUMP00000032584;SFT2 domain-containing protein 2;vesicle transport protein SFT2B protein-coding HGNC:25140 14192 VALIDATED 1603003 SFT2D3 SFT2 domain containing 3 INVOLVED IN protein transport (inferred); vesicle-mediated transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH acetaldehyde; atrazine; cobalt dichloride 2 2 2 q14.3 121769540 121772350 + 128458597 128461407 + 127701023 127703833 + 6480464 12477932;15815621;16303743;21906983;8889548 84826 Q587I9 ABBA01040199;AC006011;AK074549;AMYH02004739;AW058154;BC006808;BC063637;BC110324;BU074308;BU736338;CB990183;CH471103;NM_032740 AAX82032;BAC11053;EAW95340;EAW95341;NP_116129;Q587I9 Hs.345849;Hs.700855 1660674;1699402;1770497;2167764 A007E21;RH103292;RH68071;SHGC-64108 MGC5391 OTTHUMP00000162267;SFT2 domain-containing protein 3;vesicle transport protein SFT2C protein-coding HGNC:28767 14683 VALIDATED 1344361 SFTA1P surfactant associated 1, pseudogene INTERACTS WITH aflatoxin B1 10 10 10 p14 10754762 10765237 - 10826402 10836877 - 10784439 10794914 - 6480464 23064961 207107 ABBA01034700;AL136452;AMYH02022117;AY102069;HG502670;HG502671;HG502673;NR_027082 Hs.31562 1672093 D10S2393 RP1-186E20.2;SFTPF APPROVED pseudo ENSG00000225383 HGNC:18383 PROVISIONAL 1347220 SFTA2 surfactant associated 2 FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; progesterone 6 6 6 p21.33 32497235 32498060 - 30899127 30899952 - 30931350 30932175 - 6480464 12477932;12975309;15340161;15489334;19851445;22768197;23094088;8889549 389376 Q6UW10 ABBA01038067;AI857998;AL662854;AL669830;AL773541;AMYH02013438;AY102070;AY359057;BC039677;BX927194;CH471081;CR759747;CR936875;NM_205854;T94049 AAH39677;AAQ89416;EAX03350;NP_995326;Q6UW10 Hs.211267 2126428 D6S2088 GSGL541;SFTPG;SP-G;UNQ541 OTTHUMP00000165038;surfactant associated protein G;surfactant-associated protein 2;surfactant-associated protein G APPROVED protein-coding ENSG00000196260 HGNC:18386 18265 VALIDATED 1351266 SFTA3 surfactant associated 3 ASSOCIATED WITH Chorea (inferred); Melanoma (inferred); INTERACTS WITH dimethyl sulfoxide 14 14 14 q13.3 16806141 16846536 - 36942493 36982990 - 36473288 36513785 - 6480464;8554872 11181995;12477932;19913121;20628086;24939938 253970 E5RG42;G5EA12;P0C7M3 ABBA01061526;AK027147;AL132857;AMYH02029025;AMYH02029026;AY102071;BC042093;BC129834;CH471078;KF856952;NM_001101341 EAW65860;EAW65861;NP_001094811;P0C7M3 Hs.509165 1668982;1719897 G31514;RH123642 FLJ23494;SFTPH NANCI;OTTHUMP00000225286;OTTHUMP00000225287;putative protein SFTA3;surfactant associated protein H;surfactant-associated protein 3;surfactant-associated protein H protein-coding ENSG00000229415 HGNC:18387 PROVISIONAL 1351946 SFTPA3P surfactant protein A3, pseudogene 10 10 10 q22.3 74640137 74640583 - 81353703 81355415 - 79593947 79595659 - 1827027 100288405 ABBA01020206;AMYH02023402;BX248123;NG_016155 COLEC6;SFTPAP1;SFTPP1 APPROVED pseudo HGNC:10800 INFERRED 1312812 SFMBT2 Scm-like with four mbt domains 2 ENCODES a protein that exhibits histone binding; INVOLVED IN negative regulation of gene expression; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene diol epoxide I 10 10 10 p14 7129950 7379087 - 7200586 7453448 - 7158624 7411486 - 6480464;8554872 10997877;12477932;14702039;15164054;16344560;22581228;23385818;24250222 57713 Q5T980;Q5T981;Q5VUG0 AB046837;ABBA01034744;ABBA01034745;ABBA01034746;ABBA01034747;ABBA01034748;ABBA01034749;ABBA01034750;ABBA01034751;ABBA01034752;AK057130;AK090887;AL138771;AL139125;AL158046;AL590095;AMYH02022072;AMYH02022073;AMYH02022074;AMYH02022075;AMYH02022076;AMYH02022077;AMYH02022078;BC067242;BC144327;BC152430;CH471072;DA152101;KF455196;KF455199;NM_001018039;NM_001029880;XM_005252551;XM_006717490 AAI52431;AAI67860;BAB13443;EAW86385;NP_001018049;NP_001025051;Q5VUG0;XP_005252608;XP_006717553 Hs.407983 1341575;1673328;1690117;1698362;1725127;1750355;1750741;1759559;1772681;1772790;1772792;1849109;1851093;2107567 A006I02;D10S1691;D10S2415;G20829;RH102722;RH118865;RH93166;SFMBT2__6821;SHGC-112529;SHGC-151224;SHGC-31288;SHGC-34011;SHGC-5567;STS-AA004318 OTTHUMP00000019055;Scm-related gene containing four mbt domains 2;scm-like with 4 MBT domains protein 2;scm-like with four MBT domains protein 2 protein-coding ENSG00000198879 HGNC:20256 615392 VALIDATED 1346707 SFTPA2 surfactant protein A2 This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009] 10 10 10 q22.3 74600650 74605218 - 81315608 81320177 - 79555852 79560414 - 1578322;4143445;6480464;6484113;7240710;8554872;8699517 10762543;9475280 10781424;11087951;12477932;1372511;15164054;15489334;16385451;16406431;16489761;17580966;18487360;18828058;18983439;19100526;19392648;19543369;1986781;19914637;20048345;20301408;20448439;20466729;20693318;20963503;21601013;21840962;23038062;23056344;23069847;23223528;23328842;23525782;24793167;2610270;3755136;8125298;9476117 729238 Q8IWL1;R4GMN3;X6REF7 ABBA01020206;AK225599;AK298041;AK298074;AK298114;AK313179;AK316192;AMYH02023401;BC111571;BC139727;BC157866;BC157890;BX248123;HQ021421;HQ021422;HQ021423;HQ021424;HQ021425;HQ021426;HQ021427;HQ021428;HQ021429;HQ021430;HQ021431;HQ021432;K03475;NG_013046;NM_001098668;XM_005270128;XM_005270129;XM_005270131;XM_005270132 AAA36520;AAI11572;AAI39728;AAI57867;AAI57891;ADO27664;ADO27665;ADO27666;ADO27667;ADO27668;ADO27669;ADO27670;ADO27671;ADO27672;ADO27673;ADO27674;ADO27675;BAG35996;BAH12710;BAH12720;BAH12725;BAH14563;NP_001092138;Q8IWL1;XP_005270185;XP_005270186;XP_005270188;XP_005270189 Hs.523084 1796760;1796762;2137304;5113411;5125944 D10S2286;RH75329;SFTPA1;SFTPA2_1327;SFTPA2_821 COLEC5;FLJ50594;FLJ50597;FLJ51953;FLJ79091;FLJ93678;MGC133169;MGC133366;MGC189714;MGC189761;PSAP;PSP-A;PSPA;SFTP1;SFTPA2B;SP-A;SPA2;SPAII 35 kDa pulmonary surfactant-associated protein;OTTHUMP00000019932;OTTHUMP00000019933;alveolar proteinosis protein;collectin 5;collectin-5;pulmonary surfactant-associated protein A2;surfactant protein A2 variant ABD 1A;surfactant protein A2 variant ABD 1A0;surfactant protein A2 variant ABD 1A1;surfactant protein A2 variant ABD 1A2;surfactant protein A2 variant ABD 1A3;surfactant protein A2 variant ABD 1A5;surfactant protein A2 variant ABD' 1A;surfactant protein A2 variant ABD' 1A0;surfactant protein A2 variant ABD' 1A1;surfactant protein A2 variant ABD' 1A2;surfactant protein A2 variant ABD' 1A3;surfactant protein A2 variant ABD' 1A5;surfactant, pulmonary-associated protein A2A APPROVED protein-coding ENSG00000185303 HGNC:10799 178500;178642 REVIEWED 1353854 SFTPI surfactant, pulmonary associated protein I 207111 HGNC:18388 1343041 SFTPJ surfactant, pulmonary associated protein J 207112 HGNC:18389 736728 SFTPC surfactant protein C This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010] 8 8 8 p21 20981168 20983976 + 22014853 22021992 + 22158721 22164479 + 1624153;1580863;4143431;4143420;4143400;4143403;4143413;4143379;4143428;4143444;4143464;4144063;4144116;4143462;4143465;4144126;4144060;4144062;4144117;4144115;4144124;4144127;4144114;4143429;4143430;4144065;4143451;4143407;4144159;4143394;4144064;4143399;6480464;7240710;8554872;8699517 11207353;11385364;11445799;11472974;11472975;11504697;11796659;12169586;12519727;14748931;15271694;15756222;15790974;15967375;16251411;16423270;16629790;16910460;17121584;17662121;18038590;18566429;19304906;19443464;19910179;20560845;20656946;7537464;8569184;9655740;9720777 11344267;11699574;11699575;11699576;11802797;11893657;11907042;11991887;12034564;12477932;12933801;13680361;13817571;14525980;14735158;14977415;15039969;15049696;15102713;15133475;15153097;15293602;15489334;15496605;15516475;15647591;15778495;15927881;16042774;16449190;16613858;16630564;16631109;16709565;17005585;17051367;17264398;17586700;17597647;17703412;18199284;18239190;18317237;18383112;18390830;18400946;18405368;1859376;18612544;18643778;19148933;19220077;19258923;19281242;19366705;19376131;19472327;19735006;19815549;20054353;20237496;20301408;20371530;20403820;20463293;20503287;20539253;20658481;21092132;21165348;21169555;21248320;21310059;21542803;21707890;21828032;22458263;2326260;23406594;23505323;2383558;23926107;24099305;2839484;3335510;3366248;3479771;5942662;7713515;8181452 6440 C9JYF6;E5RG20;E5RG93;E5RHW5;E5RI64;E5RI92;P11686 ABBA01005506;AC105206;AK058094;AK298119;AK315742;AMYH02017589;AY090568;AY337315;AY357924;BC005913;BC105594;BM993053;BQ027183;CH471080;CS123922;DB537043;DQ884411;J03517;J03553;J03890;NG_016968;NG_029659;NM_001172357;NM_001172410;NM_003018;U02948;XM_005273598;XM_006716379;XM_006716380 AAA36631;AAA36634;AAB60332;AAC32022;AAC32023;AAH05913;AAP88034;AAQ67734;ABI63378;ADZ15954;BAG38097;BAG60401;CAJ18780;EAW63705;EAW63706;EAW63707;NP_001165828;NP_001165881;NP_003009;P11686;XP_005273655;XP_006716442;XP_006716443 Hs.1074 1725833;2113882;2137518;2153216;2155247 G62003;RH66510;RH78298;SFTPC;WIAF-1622 BRICD6;PSP-C;SFTP2;SMDP2;SP-C;SP5 BRICHOS domain containing 6;OTTHUMP00000224820;OTTHUMP00000224821;OTTHUMP00000224822;OTTHUMP00000224824;OTTHUMP00000224825;OTTHUMP00000224826;pulmonary surfactant apoprotein-2 SP-C;pulmonary surfactant-associated protein C;pulmonary surfactant-associated proteolipid SPL(Val) APPROVED protein-coding ENSG00000168484 HGNC:10802 01520 178620;610913 REVIEWED 735702 SFTPD surfactant protein D ENCODES a protein that exhibits carbohydrate binding (inferred); INVOLVED IN lung alveolus development; surfactant homeostasis; PARTICIPATES IN forkhead class A signaling pathway; surfactant homeostasis pathway; ASSOCIATED WITH Asthma; Bronchiolitis Obliterans; Bronchopulmonary Dysplasia; FOUND IN collagen trimer (inferred); endocytic vesicle (inferred); extracellular region (inferred); INTERACTS WITH acetylsalicylic acid; beryllium sulfate; paraquat 10 10 10 q22.2-q23.1 75688432 75699799 - 81697496 81708861 - 79937740 79949105 - 1580863;4143431;4143461;4143286;4143436;4143449;4143429;4143439;4143505;4143507;4143384;4143465;4143486;4143489;4143493;4143497;4143503;4144051;4143487;4143490;4143491;4143492;4143428;4143462;4143508;4143518;4143499;4143500;4143502;4143504;4143506;4143488;4143519;4143501;4143256;4143495;4143496;4143464;4144056;4143494;4143516;4143517;4143498;4143407;4143385;4143394;4143520;4143281;6480464;6484113;8699517;8554872 10194154;10588595;10666121;11385364;11472974;11472975;11504697;12169586;12882759;14748931;15967375;16255775;16629790;16787926;16839409;16849999;17158597;17264398;17524024;17599561;17925426;17974096;18211966;18266831;18310480;18347569;18635887;18779194;18802356;19046553;19201882;19286849;19287351;19493231;19741068;19797132;19833760;20075511;20151281;20401612;20413160;20435656;20448057;20459699;20639460;9216212 10101009;10368295;10485905;10542261;10820266;11278637;11854236;11912209;11916969;11967276;12032263;12218102;12218146;12244199;12477932;12479105;12654643;12654779;12730206;12753670;12853121;12884308;12888356;1339284;13680361;1400434;15067073;15102713;15123664;15145932;15164054;15173172;15244040;15274124;15489334;15608147;15661913;15700120;15711012;15951332;16061223;16114131;16227233;16361352;16385451;16406431;16426259;16514117;16636058;16709857;16834340;16889547;17083016;17209137;17567900;17693780;17703412;17848554;17874049;17999785;18052966;18092821;18191856;18226251;18251786;18302538;18355911;18359891;18498293;18657106;18676680;18785967;18811961;1898081;18983439;18990700;18991397;19017984;19140875;19164344;19170196;19249874;19258923;19275746;1932100;19336370;19340882;19348329;19378784;19439011;19478465;19540617;19577304;19590686;19625176;19684355;19692168;19799916;19913121;20056602;20086254;20205699;20207732;20211020;20228064;20237496;20360592;20453000;20457545;20503287;20512337;20560296;20601494;20628086;20683434;20799037;21171185;21204009;21233593;21310059;21396106;21489996;21560203;21601013;21678446;21790524;21821801;21828236;21858107;21934714;21960125;22288595;22289856;22509983;22511785;22846212;22860023;22983659;23012359;23052388;23144326;23244171;23314596;23391661;23406594;23435141;23527085;23577114;23588945;23841811;23874631;23932215;24093802;24120837;24224757;24390342;24391984;24400879;24585933;24610936;24705721;8006040;8226864;8406480;8424457;8428971;8630261;8889548;9153228;9751757;9777404 6441 P35247;Q5T0M2 ABBA01003818;AF034862;AL512662;AMYH02023412;AY216721;BC022318;BI820265;BM985387;CH471142;CR541948;L05483;L05485;NM_003019;X65018 AAB59450;AAH22318;AAO22991;CAA46152;CAG46746;EAW80419;EAW80420;EAW80421;NP_003010;P35247 Hs.253495 1742935;1770812;1791842;2137139;2217970 D10S2423;GDB:216194;PMC127735P1;SFTPD_2859;STS-X65018 COLEC7;PSP-D;SFTP4;SP-D OTTHUMP00000019944;collectin 7;collectin-7;lung surfactant protein D;pulmonary surfactant apoprotein;pulmonary surfactant-associated protein D;surfactant, pulmonary-associated protein D;surfactant-associated protein, pulmonary 4 protein-coding ENSG00000133661 HGNC:10803 01522 178635 VALIDATED 1314569 SFXN2 sideroflexin 2 ENCODES a protein that exhibits cation transmembrane transporter activity (inferred); INVOLVED IN cation transmembrane transport (inferred); iron ion homeostasis (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH 17beta-estradiol; afimoxifene; aflatoxin B1 10 10 10 q24.32 98215360 98240001 + 104474298 104498947 + 102714541 102739190 + 6480464 12477932;12670026;14702039;15489334;16385451;19915575;20877624;21139048;21890473;22505724;22939629;23535732;23602568;23974872;24250222;24457600;24778252 118980 Q96NB2;R4GMR9;R4GMS6;R4GMW0;R4GMX4;R4GN63;R4GN74;R4GNB8;R4GNC2 ABBA01063136;ABBA01063137;AF462052;AK055711;AK308246;AL391121;AMYH02023704;AMYH02023705;BC022091;CH471066;NM_178858;XM_005269517;XM_006717618;XR_246067;XR_428698 AAH22091;AAM09645;ABM83782;ABM87102;BAB70993;EAW49675;EAW49676;EAW49677;NP_849189;Q96NB2;XP_005269574;XP_006717681 Hs.44070 1697680;5037552;5109281 D1S1425;D8S2279;RH102356 OTTHUMP00000020380;sideroflexin-2 protein-coding HGNC:16086 18045 615570 VALIDATED 1318276 SFXN1 sideroflexin 1 ENCODES a protein that exhibits cation transmembrane transporter activity (inferred); INVOLVED IN cation transmembrane transport (inferred); erythrocyte differentiation (inferred); iron ion homeostasis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH arsenite(3-); benzo[a]pyrene diol epoxide I; bisphenol A 5 5 5 q35.3 170944525 170994642 + 174905514 174956745 + 175478511 175529742 + 1580863;6480464;8554872 11076863;11230166;11274051;11722557;12150972;12477932;14634051;14702039;15060089;15489334;15489336;15589833;16196087;16344560;16381901;17353931;18029348;19322201;20186120;20562859;20877624;21081666;21139048;21145461;21890473;21906983;21963094;22304920;22939629;23125841;23464991;24457600;24583282;24816145;25027693;8132490;8889548 94081 D6RAE9;D6RDG7;D6RFI0;H0Y9J5;Q9H9B4;S4R2X2 ABBA01043992;ABBA01043993;AC091393;AF327346;AK022287;AK022938;AK025032;AK056915;AMYH02012800;AMYH02012801;BC020517;BC063241;BU689165;BX648188;CH471062;DA753705;NM_022754;XM_005266012 AAH20517;AAH63241;AAL56007;BAB14003;BAB14318;BAG51825;CAL38720;EAW61370;EAW61371;EAW61372;EAW61373;EAW61374;EAW61375;NP_073591;Q9H9B4;XP_005266069 Hs.369440 1340249;1670253;1698014;1761715;1764947;2182778;2186228;5015621;5015861;5037552;7185938 D10S16;D11S3732;D5S2034;D8S2279;RH102536;RH68876;SHGC-145688;SHGC-148498;WI-11328;WI-16996 FLJ12876;TCC OTTHUMP00000161114;sideroflexin-1;tricarboxylate carrier protein protein-coding ENSG00000164466 HGNC:16085 18044 615569 VALIDATED 736369 SFTPA1 surfactant protein A1 This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 10 10 10 q22.3 74655786 74660290 + 81370651 81375199 + 79610890 79615443 + 1578322;4143394;4143411;4143436;4143451;4143433;4143462;4143437;4143403;4143409;4143431;4143449;4143452;4143379;4143407;4143439;4143423;4143384;4143429;4143489;4143428;4143450;4144873;4144870;4144874;4143446;4143281;4144876;4143472;4143506;4144871;4144875;4143495;4143505;4144872;4143430;4143464;4143453;4143516;4143288;4143289;4143398;4143387;4143454;4143448;6480464;6484113;7240710 10194154;10543276;10588595;10762543;11063734;11105614;11385364;11445799;11472975;11504697;11589345;12169586;12476938;12612307;13680361;14748931;15136884;15271694;15816355;15967375;16162765;16292672;16429424;16620381;16629790;17264398;17407567;17599561;17662121;18802356;18926058;18959437;19287351;19347046;19797132;20413160;7590701;7654386;8542113;8569184;8652189;9216212;9230741;9374572 10101009;10781424;11087951;11149893;11174628;11181995;11245991;11714829;11724772;11751208;11807709;12040027;12055204;12244146;12244199;12421966;12437362;12477932;12505869;12654642;12654643;12743564;12750409;12777246;12794007;12817025;12842807;12846554;1372511;14531999;14617519;14633512;14702039;14720435;14751851;15026426;15075250;15102713;15145932;15164054;15216431;15274124;15308505;15377498;15489334;15608147;15615713;15696492;1577827;15845487;15890661;15894557;15932345;15996209;16061856;16081790;16114131;16330552;16344560;16385451;16581766;16754682;16827183;16884531;16889547;17083016;17128993;17220308;17293378;17311505;17343789;17524024;17580966;17848554;17874049;17905854;18022079;18251786;18285549;18443188;18463356;18523248;18554451;18566427;18595202;18710635;18828058;18983439;19181744;19264843;1935736;19378784;19392648;1986781;19894557;20048345;20056602;20233942;20301408;20448439;20540853;20693318;20708093;20864512;20873544;20963503;21159752;21203987;21251160;21270323;21402781;21435274;21601013;21784968;22201752;22384248;22418431;22528218;22672628;22769972;22884059;23031213;23038062;23069847;23406594;23499372;23707200;23926107;24007361;24093802;24793167;24939295;25025725;2610270;2884868;2995821;3755136;8226864;8354874;8360162;8406480;8494055;8663107;9204768;9294011;9813381 653509 B4DNP6;B4DNW5;Q8IWL2 ABBA01020206;AK290703;AK298002;AK298029;AK298034;AK298092;AK309518;AK316196;AMYH02023402;AY198391;BC026229;BC029913;BC111570;BC171875;BI820937;BM996243;BX248123;CH471083;DA588383;HQ021433;HQ021434;HQ021435;HQ021436;HQ021437;HQ021438;HQ021439;HQ021440;HQ021441;HQ021442;JX502764;JX502765;NG_021189;NM_001093770;NM_001164644;NM_001164645;NM_001164646;NM_001164647;NM_005411;XM_005270061;XM_005270062;XM_006717953;XM_006717954 AAH29913;AAI11571;AAI71875;AAO13486;ADO27676;ADO27677;ADO27678;ADO27679;ADO27680;ADO27681;ADO27682;ADO27683;ADO27684;ADO27685;AFV36787;AFV36788;BAF83392;BAG60308;BAG60331;BAG60335;BAG60377;BAH14567;EAW54657;EAW54658;EAW54659;EAW54660;NP_001087239;NP_001158116;NP_001158117;NP_001158118;NP_001158119;NP_005402;Q8IWL2;XP_005270118;XP_005270119;XP_006718016;XP_006718017 Hs.535295;Hs.745476 1681823;1742253;1743165;1770055;2186778;5113411;5125944 GDB:193873;GDB:278158;RH17690;RH75329;RH93200;SFTPA1;STS-T63485 COLEC4;FLJ50593;FLJ51913;FLJ61144;FLJ77898;FLJ79095;FLJ99559;MGC133365;MGC198590;PSAP;PSP-A;PSPA;SFTP1;SFTPA1B;SP-A;SP-A1;SPA;SPA1 35 kDa pulmonary surfactant-associated protein;OTTHUMP00000019928;OTTHUMP00000019929;OTTHUMP00000019930;OTTHUMP00000019931;alveolar proteinosis protein;collectin-4;pulmonary surfactant-associated protein A1;surfactant protein A1 variant AB'D' 6A;surfactant protein A1 variant AB'D' 6A2;surfactant protein A1 variant AB'D' 6A3;surfactant protein A1 variant AB'D' 6A4;surfactant protein A1 variant ACD' 6A;surfactant protein A1 variant ACD' 6A2;surfactant protein A1 variant ACD' 6A3;surfactant protein A1 variant ACD' 6A4;surfactant protein A1 variant AD' 6A;surfactant protein A1 variant AD' 6A2;surfactant protein A1 variant AD' 6A3;surfactant protein A1 variant AD' 6A4;surfactant protein A1B;surfactant, pulmonary-associated protein A1A;surfactant, pulmonary-associated protein A1B APPROVED protein-coding ENSG00000122852 HGNC:10798 178500;178630 REVIEWED 1345797 SFXN3 sideroflexin 3 ENCODES a protein that exhibits cation transmembrane transporter activity (inferred); INVOLVED IN cation transmembrane transport (inferred); iron ion homeostasis (inferred); FOUND IN mitochondrion; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; calcitriol; cyclosporin A 10 10 10 q24.31 96528732 96538734 + 102790996 102800998 + 101031239 101041241 + 1580863;6480464 12477932;14702039;16303743;17110338;17207965;18029348;18854154;19322201;20877624;21139048;21890473;22939629;23464991;24583282;25027693 81855 Q9BWM7;S4R3N9 ABBA01063208;ABBA01063209;AK074707;AK093011;AK299405;AL133215;AL701236;AMYH02023665;BC000124;BG698800;BG773593;BG775086;BI819328;CH471066;CQ783611;NM_030971;XR_428720 AAH00124;ADQ31902;BAC11151;BAG61388;CAF86775;EAW49787;NP_112233;Q9BWM7 Hs.283844 1736062;1768848;2131913;2168967;2168969;2179212 A006J02;D10S1322E;D10S1338E;G20861;RH47518;RH78949 BA108L7.2;SFX3 OTTHUMP00000020311;sideroflexin-3 protein-coding ENSG00000107819 HGNC:16087 15329 615571 VALIDATED 1314503 SFXN4 sideroflexin 4 This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014] 10 10 10 q26.11 114629997 114654783 - 120900425 120925221 - 119140913 119165708 - 6480464;8699517;7240710;8554872 12477932;14702039;14756423;15164054;15489334;16385451;17207965;18029348;19615732;20237496;20562859;20877624;21139048;21890473;21906983;24119684;8889548 119559 B1AMV7;B1AMV8;Q6P4A7 AA401250;ABBA01062907;ABBA01062908;AF336980;AK095295;AL355598;AL355861;AMYH02023902;AMYH02023903;AW249181;AY269785;BC050475;BC063562;BQ009818;BU959063;CB306697;CH471066;H12949;NG_033895;NM_213649;NR_110305;XM_005269525;XM_005269526;XM_005269527;XM_006717625 AAH63562;AAP23066;AAP97074;ADQ32544;BAC04525;EAW49400;EAW49401;EAW49402;EAW49403;EAW49404;NP_998814;Q6P4A7;XP_005269582;XP_005269583;XP_005269584;XP_006717688 Hs.655168 1754437;2166892 SHGC-132513;SHGC-34017 BCRM1;COXPD18 OTTHUMP00000020591;breast cancer resistance marker 1;sideroflexin-4 protein-coding ENSG00000183605 HGNC:16088 18046 615564;615578 REVIEWED 1343188 SFXN5 sideroflexin 5 ENCODES a protein that exhibits cation transmembrane transporter activity (inferred); citrate transmembrane transporter activity (inferred); INVOLVED IN cation transmembrane transport (inferred); citrate transport (inferred); iron ion homeostasis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; diazinon 2 2 2 p13 73020012 73149807 - 73169165 73298965 - 72942036 73071836 - 1580863;6480464;8554872 12039050;12150972;12477932;14702039;15489334;15815621;20877624 94097 B4DIJ8;B8ZZJ6;C9JIV5;F8WBH6;H7C1S9;Q8TD22 ABBA01075574;ABBA01075575;ABBA01075576;AC012366;AK024193;AK025170;AK094205;AK289731;AK294751;AK295637;AK307116;AK308863;AK309091;AK314770;AK315861;AL833454;AMYH02004070;AY044437;BC013233;BC018640;BC046630;BC101311;BC101312;BC101313;CH471053;NM_144579;XM_005264646;XM_005264647;XM_005264648;XM_006712145;XM_006712146;XM_006712147;XM_006712148;XM_006712149;XR_244971 AAI01312;AAI01313;AAI01314;AAK95826;AAY14745;BAF82420;BAF98752;BAG57890;BAG58510;EAW99752;EAW99753;EAW99754;NP_653180;Q8TD22;XP_005264703;XP_005264704;XP_005264705;XP_006712208;XP_006712209;XP_006712210;XP_006712211;XP_006712212 Hs.368171 1655188;1720053;2126365;2134650;2134652;2180426;5015619;5015861;5022578;5022651;5037552;5109281;7185938 A001Z27;A006O05;D10S16;D11S2921;D11S3114;D1S1423;D1S1425;D8S2279;G19820;RH123823;RH78075;WI-14605 BBG-TCC;MGC120413;MGC120415 OTTHUMP00000160197;OTTHUMP00000202290;OTTHUMP00000202293;OTTHUMP00000203040;sideroflexin-5 protein-coding ENSG00000144040 HGNC:16073 18047 615572 VALIDATED 737197 SFTPB surfactant protein B This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010] 2 2 2 p12-p11.2 85712739 85724163 - 85884440 85895864 - 85657317 85668741 - 1624152;1580863;4143377;4143412;4143416;4143433;4143286;4143289;4143403;4143409;4143410;4143423;4143429;4143411;4143431;4143379;4143414;4143439;4143418;4143384;4143428;4143404;4143465;4143463;4143446;4143462;4143290;4143408;4143430;4143438;4143464;4143447;4143448;4143460;4143472;4143451;4143287;4143402;4143407;4143381;4143382;4143389;4143392;4143393;4143396;4143398;4143376;4143390;4143394;4143399;4143405;4143454;4143455;6480464;7240710;8554872;8699517 10194154;10502556;11063734;11385364;11445799;11472974;11472975;11504697;11589345;12169586;12424586;12490037;12515908;12594064;12612307;12639841;13680361;14718442;14748931;15102713;15136884;15190959;15271694;15315329;15790974;15816355;15817713;15967375;16024721;16042774;1622844;16274485;16309574;16570259;16629790;17264398;17498296;17507829;17662121;18263595;18353230;18550614;18926058;19099817;19201882;7654386;7832777;8163685;8569184;9230741;9351625;9374572 10378403;10571948;10722708;10798379;11076040;11699574;11699576;11788590;12107845;12161428;12356334;12477932;12483294;12573987;12784301;12829715;12896877;12972403;13129928;1346779;1415726;14569193;14720435;14766755;14977415;15049696;15489334;15496605;15568810;15654742;1568474;15695595;15790313;1606172;16100012;16183668;16211553;16214863;16333843;16456143;16461352;16500948;16549540;16630564;16809635;16971405;17071721;17207965;17209137;17540055;17581675;17597650;17690329;17703412;18256027;18317237;18405368;18558554;18679120;18776725;18797948;18828058;18828060;19017876;19111454;19131640;19132247;19220077;19258923;19336370;19348329;19393186;19808337;19833825;20005435;20233420;20503287;20525719;20650982;20693256;21128671;21180884;21283003;21429235;21736957;21817103;22201752;22289747;23088317;23272120;23330012;23406594;23590297;23771654;24002332;24093802;24163141;2475034;2924687;3035561;3343343;3597440;7644495;7956367;9793979 6439 D6W5L6;H0Y7V6;P07988;U3KQT2 AB439563;AB439565;AB439566;ABBA01075766;AC012454;AF400074;AK303817;AK314947;AL548140;AMYH02004187;AW204600;BC032785;BG482852;BI821350;BM989941;CA435153;CA437348;CA439044;CH471053;CS123915;DQ317589;J02761;M16764;M19097;M24461;NG_016967;NM_000542;NM_198843;XM_005264487;XM_005264488;XM_005264489;XM_005264490;XM_006712076 AAA36628;AAA60212;AAA88099;AAB59541;AAH32785;AAK77913;ABC59511;ADQ32344;BAG37452;BAG64767;CAJ18771;EAW99487;EAW99488;EAW99489;NP_000533;NP_942140;P07988;XP_005264544;XP_005264545;XP_005264546;XP_005264547;XP_006712139 Hs.512690 1644430;1666501;1685568;1741275;1744751;1796764;2172168;5109281;5118444 D11S3316;D1S1425;D2S2579;D2S2612;GDB:180296;GDB:555915;RH69695;RH98252;SFTPB_1556 PSP-B;SFTB3;SFTP3;SMDP1;SP-B 18 kDa pulmonary-surfactant protein;6 kDa protein;OTTHUMP00000160684;OTTHUMP00000203252;OTTHUMP00000203253;pulmonary surfactant-associated protein B;pulmonary surfactant-associated proteolipid SPL(Phe) APPROVED protein-coding ENSG00000168878 HGNC:10801 01523 178640;265120 REVIEWED 1312050 SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008] 4 4 4 q12 50381940 50399524 - 52885752 52904485 - 52019586 52052400 - 1599343;1580863;6480464;6907045;7240710;8554872;8699517 9631401 10660328;10662809;10678176;10767327;10874299;10928275;10942431;10993904;11747090;12060343;12189167;12477932;14702039;15489334;15954112;16088906;16934466;17036316;17993586;18051367;18996010;20301582;2081733;21139048;21906983;24250222;7581448;7581449;8968749;9032047;9521867;9565988;9864373 6443 B7Z635;H0Y8J3;H0YA15;Q16585;Q5U0N0 ABBA01003374;AC093858;AK094731;AK289892;AK299765;AMYH02009196;AMYH02009197;BC020709;BC048972;BT019433;CA449352;CH471057;CN483961;CR456810;NG_008891;NM_000232;U29586;U31116;U63801;XM_006714046;XM_006714047;XM_006714048;XM_006714049;Y09781 AAA87034;AAB41291;AAB46956;AAH20709;AAV38240;ABM84066;ABM87424;ABW03884;BAF82581;BAH13121;CAA70920;CAG33091;EAX05429;EAX05430;NP_000223;Q16585;XP_006714109;XP_006714110;XP_006714111;XP_006714112 Hs.438953 1674669;1735382;1778936;2121539;2143428;5015619;5022578;5024039;5037552 D11S3114;D16S325;D1S1423;D4S2486E;D4S2539E;D8S2279;SHGC-50265;SHGC-67269;STS-W81563 43DAG;A3b;LGMD2E;SGC;beta-SG 43 kDa dystrophin-associated glycoprotein;OTTHUMP00000158880;beta-sarcoglycan;beta-sarcoglycan(43kD dystrophin-associated glycoprotein);limb girdle muscular dystrophy 2E (non-linked families) APPROVED protein-coding ENSG00000163069 HGNC:10806 02942 600900;604286 REVIEWED 1352882 SGCE sarcoglycan, epsilon This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] 7 7 7 q21.3 88912778 88983736 - 94214536 94285521 - 94585224 94656209 - 1580863;6480464;7240710;8554872;8699517 10554001;10993904;11528394;12060343;12325078;12402271;12444570;12477932;12620933;12634861;12707948;12821748;12853948;12975309;14978685;15193417;15368614;15390016;15627203;15679701;15728306;16169070;16534121;17200151;17230465;17296918;17394244;17394247;17702041;17702043;17898012;17993586;18098280;18162078;18175340;18205193;18349702;18355305;18362280;18581468;18651096;18702114;18852357;19066193;19117362;19147379;19441135;19896264;20298200;20301334;20301587;20372795;20800530;21139048;21157498;21219543;21220679;21320983;21382349;21386109;21425342;21713999;21767414;21906983;21988832;22026499;22626943;23284065;23365103;23561547;23677909;24297365;25034659;9405466;9475163 8910 B7Z2R4;C9J4J9;C9JR67;E9PEH6;H0YC75;O43556 AB117974;ABBA01045782;AC069292;AF031920;AF036364;AF516515;AJ000534;AK295021;AK298220;AK313438;AL547747;AMYH02016285;AMYH02016286;AY359042;BC021709;BI552969;CH236949;CH471091;KF458520;NG_008893;NM_001099400;NM_001099401;NM_001301139;NM_003919;XM_005250675;XM_005250677;XM_005250679;XM_006716165;XM_006716166;XM_006716167;XR_428187 AAC04368;AAC14021;AAH21709;AAM64204;AAQ89401;AAS07485;ABM84989;ABW03640;BAD21206;BAG36229;BAG60490;BAH11950;CAA04167;EAW76784;EAW76785;EAW76786;EAW76787;EAW76788;NP_001092870;NP_001092871;NP_001288068;NP_003910;O43556;XP_005250732;XP_005250734;XP_005250736;XP_006716228;XP_006716229;XP_006716230 Hs.371199 1687411;1708924;1779760;2123332 RH46573;SHGC-153737;SHGC-33751;SHGC-79514 DYT11;ESG OTTHUMP00000163052;OTTHUMP00000208297;OTTHUMP00000208298;OTTHUMP00000208299;OTTHUMP00000208300;OTTHUMP00000208303;dystonia 11, myoclonic;epsilon-SG;epsilon-sarcoglycan APPROVED protein-coding ENSG00000127990 HGNC:10808 04999 159900;604149 REVIEWED 1347979 SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008] 13 13 13 q12 4818082 4962307 + 23755060 23899304 + 23160542 23325165 + 1580309;1580863;6480464;6907045;7240710;8554872;8699517 15087111 10629222;10714584;10767327;10942431;10993904;12189167;12477932;14506720;14960875;15479193;15489334;15546612;15954112;16344560;16832103;16883602;18996010;19770540;20301582;20345928;20350330;20379614;21668797;21738484;21832049;22004471;22524166;23291589;23300278;7481775;7668303;8105688;8641426;8900232;8923014;8968757;9864373 6445 Q13326 ABBA01007869;ABBA01007870;ABBA01007871;ABBA01007872;ABBA01007873;ABBA01007874;AK290620;AK316579;AL157766;AL160256;AL356287;AMYH02027690;AMYH02027691;AMYH02027692;AMYH02027693;BC074777;BC074778;BC109321;CH471075;DA897096;NG_008759;NM_000231;U34976;U63395;XM_005266505;XM_006719861 AAC50269;AAD13475;AAH74777;AAH74778;AAI09322;BAF83309;BAG38167;EAX08320;EAX08321;NP_000222;Q13326;XP_005266562;XP_006719924 Hs.37167 1334606;1713443;1724929;1737491;1737497;2119713;2121229;2121604 D13S1033;D13S1037;D13S232;D13S905;RH119231;RH119579;SGC35673;STS-U34976 35DAG;A4;DAGA4;DMDA;DMDA1;LGMD2C;MAM;MGC130048;SCARMD2;SCG3;TYPE 35 kDa dystrophin-associated glycoprotein;35kD dystrophin-associated glycoprotein;OTTHUMP00000018112;gamma sarcoglycan;gamma-SG;gamma-sarcoglycan APPROVED protein-coding ENSG00000102683 HGNC:10809 07039 253700;608896 REVIEWED 1317183 SGCZ sarcoglycan, zeta The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] 8 8 8 p22 12912065 14059882 - 13947373 15095792 - 14089864 15238283 - 6480464;8554872 12189167;12477932;15489334;17438352;18625863;19472918;20379614;20526338;22836685;23251661;23382691;23594818 137868 Q08AT0;Q96LD1 ABBA01021604;ABBA01021605;ABBA01021606;ABBA01021607;ABBA01021608;ABBA01021609;ABBA01021610;ABBA01021611;ABBA01021612;ABBA01021613;ABBA01021614;ABBA01021615;ABBA01021616;ABBA01021617;AC009898;AC019215;AC020992;AC021760;AC022039;AC023538;AC040926;AC084838;AC106857;AC107965;AMYH02017493;AMYH02017494;AMYH02017495;AMYH02017496;AMYH02017497;AMYH02017498;AMYH02017499;AMYH02017500;AMYH02017501;AMYH02017502;AY028700;AY502063;BC069459;BC125037;CH471080;KF458690;KF458691;KF458694;NG_008899;NM_139167;XM_006716287 AAH69459;AAI25038;AAK21962;AAR89453;EAW63843;EAW63844;NP_631906;Q96LD1;XP_006716350 Hs.676196 1335091;1338526;1644967;1670039;1672470;1695922;1703756;1704478;1707762;1708534;1713163;1713881;1716033;1717405;1717515;1720989;1748613;1748855;1753065;1758925;1763207;2124548;2168484;5094813 ATT070;D8S1647;D8S1827;D8S511;G09307;G32147;G59476;RH119371;RH120369;RH120955;RH122193;RH122264;SHGC-110274;SHGC-110519;SHGC-146940;SHGC-150709;SHGC-68946;SHGC-78879;SHGC-82100;SHGC-82986;SHGC-83174;SHGC-85044;WI-1021;WI-10386 MGC149397;ZSG1 OTTHUMP00000116054;OTTHUMP00000229979;zeta-SG;zeta-sarcoglycan APPROVED protein-coding ENSG00000185053 HGNC:14075 12165 608113 REVIEWED 1346308 SGIP1 SH3-domain GRB2-like (endophilin) interacting protein 1 SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008] 1 1 1 p31.3 65290173 65500737 + 66999066 67210768 + 66533471 66751139 + 737633;6480464 12477932 11076863;11230166;11256614;14702039;15489334;15489336;15919751;16344560;16381901;16710414;17626015;17975119;19023099;19713939;20379614;20421487;20946875;21317682;21407171;23307926;23509613 84251 B7Z691;F6R8P8;Q6ZV33;Q9BQI5 AB210039;ABBA01074528;ABBA01074529;ABBA01074530;ABBA01074531;ABBA01074532;AK090697;AK125044;AK298970;AK299941;AL136561;AL139147;AL354978;AL356913;AL391820;AMYH02001194;AMYH02001195;BC040516;BX640813;CH471059;CR749541;DA801276;KF495974;NM_032291;XM_005271264;XM_005271265;XM_005271266;XM_005271268;XM_005271269;XM_005271270;XM_006710961;XM_006710962;XM_006710963;XM_006710964;XM_006710965;XM_006710966;XM_006710967;XM_006710968;XM_006710969;XM_006710970;XM_006710971;XM_006710972;XM_006710973;XM_006710974 AAH40516;ACE86691;ACE87375;BAC86031;BAE06121;BAG52213;BAH12914;BAH13177;CAB66496;CAE45891;CAH18344;CAL37765;EAX06521;EAX06522;EAX06523;NP_115667;Q9BQI5;XP_005271321;XP_005271322;XP_005271323;XP_005271325;XP_005271326;XP_005271327;XP_006711024;XP_006711025;XP_006711026;XP_006711027;XP_006711028;XP_006711029;XP_006711030;XP_006711031;XP_006711032;XP_006711033;XP_006711034;XP_006711035;XP_006711036;XP_006711037 Hs.132121 1337827;1660056;1660650;1673957;1691980;1693518;1704740;1711396;1713451;1714845;1748507;1789080;1789194;2150218;2167985;5094276;7186968 AL009405;AL009520;AL033642;D1S198;D1S3585;G16077;G42182;G54681;G65597;G65675;RH119584;RH120417;SHGC-131180;SHGC-30800;SHGC-58572;SHGC-79650 DKFZp686A16142;DKFZp761D221;FLJ33378;FLJ43054 OTTHUMP00000010739;OTTHUMP00000010740;OTTHUMP00000010741;SH3-containing GRB2-like protein 3-interacting protein 1;endophilin-3-interacting protein APPROVED protein-coding HGNC:25412 10910 611540 VALIDATED 735754 SFRP1 secreted frizzled-related protein 1 This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009] 8 8 8 p11.21 40068517 40116053 - 41119476 41166990 - 41261957 41309471 - 2301712;2298808;4107084;6480464;6907045;7365107 15123780;15972578;20420713;23085770 10347172;10660608;10980594;11287180;11593386;11741940;11932307;12055200;12413893;12477932;12925876;14581477;14871816;15146197;15235574;15335268;15489334;15677765;15886250;16007200;16149051;16149501;16288033;16328026;16344560;16407829;16410684;16410723;16423993;16449975;16523202;16532032;16609023;16775427;17035233;17353908;17443492;17465504;17471511;17485441;17500071;17544413;17626620;17699851;17994217;18035687;18156211;18274669;18371946;18497987;18528941;18592156;18639284;18706212;18774388;18787224;18795670;18941195;18949430;18976975;19053830;19072540;19095296;19118898;19199708;19254787;1927703;19277043;19299079;19453261;19473496;19543515;19565266;19569235;19690140;19702942;19723665;19730886;19734317;19737074;19778523;20030932;20162454;20208569;20353273;20471677;20595636;20596629;20685720;20811686;20823417;20848536;20856206;21046672;21344486;21382349;21402050;21567192;21830441;21988832;22031861;22178351;22246241;22296502;22351518;22576962;22927647;23159077;23215838;23441124;23449484;23467623;23572277;23698475;23770846;23802127;23927957;24080158;24096618;24127655;24133576;24305703;24374650;24454902;24504368;7561057;8922468;9096311;9138296;9192640;9391078;9403839;9724099 6422 Q6ZSL4;Q8N474 ABBA01021127;ABBA01021128;AC104393;AF001900;AF017987;AF056087;AF229192;AK127331;AK293090;AL049995;AMYH02017869;AMYH02017870;BC004466;BC036503;BQ002015;CB956696;CH471080;CN271890;DA571541;NM_003012 AAB61576;AAB70793;AAC12877;AAH04466;AAH36503;AAK00753;BAC86934;BAF85779;EAW63260;EAW63261;NP_003003;Q8N474 Hs.213424 1694554;1696212;1751423;1798148;2133853;2133855;2153835 A002C42;G19941;G43220;RH12508;SFRP1_1897;SHGC-105250;SHGC-79057 FRP;FRP-1;FRP1;FrzA;SARP-2;SARP2;sFRP-1 OTTHUMP00000225802;secreted apoptosis-related protein 2 APPROVED protein-coding ENSG00000104332 HGNC:10776 09165 604156 REVIEWED 1347154 SGK2 serum/glucocorticoid regulated kinase 2 This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] 20 20 20 q13.2 38895152 38921737 + 42187566 42214317 + 43558995 43585633 + 1580863;6480464;8554872 10548550;11707620;11780052;12397388;12477932;12632189;12634932;15203218;15489334;15578212;15790807;16344560;16460280;19953087;20511718;21832049;21890473;21988832;22939624;24204015 10110 F2Z3C8;Q5H8Y5;Q9HBY8;X6R8H3 ABBA01052619;ABBA01052620;AF169034;AF186470;AK289596;AK308502;AMYH02037113;AMYH02037114;AY987010;BC006523;BC014037;BC065511;BG420383;BT020098;CD627734;CH471077;DA244897;DB183229;DC385330;KF456917;NG_029448;NM_001199264;NM_016276;NM_170693;Z98752 AAF12757;AAG17012;AAH14037;AAH65511;AAV38901;AAX88805;BAF82285;EAW75955;EAW75956;NP_001186193;NP_057360;NP_733794;Q9HBY8 Hs.300863;Hs.740147 1729518;1848314 D20S43;Z94618 H-SGK2;dJ138B7.2 OTTHUMP00000031702;OTTHUMP00000031703;OTTHUMP00000031704;OTTHUMP00000031705;OTTHUMP00000031706;OTTHUMP00000031707;serine/threonine-protein kinase Sgk2;serum/glucocorticoid-regulated kinase 2 APPROVED protein-coding ENSG00000101049 HGNC:13900 06348 607589 REVIEWED 1603276 SGK494 uncharacterized serine/threonine-protein kinase SgK494 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); INTERACTS WITH (-)-demecolcine; copper(2+) sulfate; ethyl methanesulfonate 17 17 17 q11.2 23794009 23800238 - 26934799 26941377 - 28607964 28614340 - 6480464 10737800;12471243;12477932;14702039;15489334 124923 L7N484;Q96LW2 ABBA01015052;AC005726;AK056265;AK057735;AK294189;AMYH02033223;AMYH02033224;BC045622;BC147005;BC147009;BF799265;CH471159;EB388892;NM_001174103;NM_001287207 AAH45622;AAI60139;BAB71555;BAG57505;EAW51108;EAW51109;EAW51110;EAW51111;NP_001167574;NP_001274136;Q96LW2 Hs.729077 1667701;1678601;1734434;1847515;2123029;2166045;5015861;5020274;5022463;5037670;5493767;7185938 D10S16;D17S1405E;D3S1673;D3S4354;G19761;L18441;RH10564;SHGC-12628;SHGC-31911;SHGC-32514;UniSTS:494733 FLJ25006;FLJ78978;MGC39533 sugen kinase 494 APPROVED protein-coding 08680 VALIDATED 1345170 SGM1 segmentation syndrome 1 6438 HGNC:10815 1315366 SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q33-q34 151779805 152220524 + 155462147 156194799 + 156035139 156767788 + 1599341;1580863;6480464;6907045;7240710;8554872;8699517 8841194 10341878;10481911;10608889;10629222;10735275;10767327;10928275;10942431;10974018;10993904;12477932;12794684;14506720;14564412;15489334;16344560;17036316;17652892;17993586;18649358;18996010;19010793;19259135;19260139;19913121;20161521;20181037;20301486;20301582;20379614;20384457;20474083;20628086;21988832;23251661;23786442;24023788;8776597;8842738;8889549;8943294;9339364;9832045;9864373 6444 E5RI34;Q92629 AA029970;ABBA01044278;ABBA01044279;ABBA01044280;ABBA01044281;ABBA01044282;AC008535;AC010304;AC011345;AC011347;AC011351;AC011413;AC016577;AC025434;AC027308;AF010236;AI139498;AK129889;AK130068;AK292794;AMYH02012531;AMYH02012532;AMYH02012533;AMYH02012534;AMYH02012535;AMYH02012536;AMYH02012537;AMYH02012538;AMYH02012539;BC008431;BC020740;BQ434817;BQ446019;BX501169;BX537948;BX642431;CH471062;DA561069;KC877141;KC877147;KC877152;KF458037;KF510260;NG_008693;NM_000337;NM_001128209;NM_172244;U58331;X95191;XM_005265965;XM_005265966;XM_005265967;XM_006714911;XM_006714912 AAC50921;AAH20740;ABM82676;ABM85855;BAF85483;CAA64490;CAD97916;EAW61618;EAW61619;NP_000328;NP_001121681;NP_758447;Q92629;XP_005266022;XP_005266023;XP_005266024;XP_006714974;XP_006714975 Hs.387207;Hs.644733 1331610;1339382;1644479;1677140;1696676;1699742;1704402;1709442;1724033;1724723;1729329;1747083;1755879;1781012;1781014;1785506;1850912;2106603;2123821;2131239;2138192;2171115;2175454;2186103 A006N34;D5S1499;D5S820;G64134;G64955;L31456;NIB2057;RH103477;RH119027;RH122565;RH36417;RH41990;RH80699;SGCD__5392;SHGC-14004;SHGC-142716;SHGC-153999;SHGC-79724;SHGC-81762;SHGC-83016;STS-U58331;WI-14133;bac5714T;bac5715T 35DAG;CMD1L;DAGD;MGC22567;SG-delta;SGCDP;SGD 35 kDa dystrophin-associated glycoprotein;35kD dystrophin-associated glycoprotein;OTTHUMP00000223946;OTTHUMP00000223947;OTTHUMP00000223961;delta-SG;delta-sarcoglycan;dystrophin associated glycoprotein, delta sarcoglycan;placental delta sarcoglycan APPROVED protein-coding ENSG00000170624 HGNC:10807 03246 601287;601411;606685 REVIEWED 1352309 SGMS1 sphingomyelin synthase 1 The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008] 10 10 10 q11.2 75221199 75539540 - 52065345 52383737 - 50305585 50623977 - 737633;1580863;1302423;6480464;6907045;8554872 12353928;12477932 10544266;11841947;14685263;14976195;15315829;15489334;16341674;16385451;16508036;16713569;17449912;17467659;17616479;17982138;18370930;18694848;18820264;19001565;19506037;19779494;19946888;20379614;21203393;21418611;21549185;21856749;21980337;22106271;22863277;22952603;23160178;24062078;24250222;24324551 259230 B4DJU2;D3DWC4;Q86VZ5;R4GNI5;U3KQ11 AB154421;ABBA01052477;ABBA01052478;ABBA01052479;ABBA01052480;AC069547;AC254108;AK026683;AK296233;AK311737;AL117341;AL596137;AMYH02023055;AY280959;AY312431;AY332650;AY364088;BC042899;BM141853;BM764008;BN000143;CH471142;FM210200;FN870365;FN908045;FN908146;FN985166;FR686760;NM_147156;XM_005269675;XM_006717748;Y14155 AAH42899;AAP37279;AAQ22363;AAQ82051;AAR13294;BAD16809;BAG58954;CAD79708;CAR65042;CBM41470;CBM42040;CBM43071;CBW52777;EAW80429;EAW80430;EAW80431;EAW80432;NP_671512;Q86VZ5;XP_005269732;XP_006717811 Hs.654698 1338348;1341859;1647332;1661624;1682828;1689885;1690852;1705538;1755311;1766247;1768754;1774047;1797084;1858136;2116420;2123923;2134477;2161039;7184022;7184875;7187776 A007I09;BF055346;D10S1577;D10S196;D10S220;D10S2407;D10S2418;D10S538;RH45684;RH80546;RH80900;RH99240;SGC34922;SHGC-142200;SHGC-149604;SHGC-16177;SHGC-83869;STS-AA009772;WI-12701 MGC17342;MOB;MOB1;SMS1;TMEM23;hmob33 OTTHUMP00000035396;medulla oblongata-derived protein;phosphatidylcholine:ceramide cholinephosphotransferase 1;transmembrane protein 23 APPROVED protein-coding ENSG00000198964 HGNC:29799 18203 611573 REVIEWED 1605563 SGMS2 sphingomyelin synthase 2 Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008] 4 4 4 q25 106040532 106131005 + 108745721 108836203 + 107824565 107915047 + 6480464;6907045;8554872 12477932;14685263;15489334;16344560;17449912;17616479;17982138;18370930;18566297;18694848;19001565;19233134;19286635;19454763;20332099;21139048;21235823;21906983;21980337;22106271;23000965 166929 E5RGG5;E5RJ63;E5RJU3;Q8NHU3 ABBA01063755;AC096564;AF452717;AK290344;AK314049;AL833599;AMYH02009879;BC028705;BC041369;BX649142;CH471057;DB048409;DC417367;NM_001136257;NM_001136258;NM_152621;XM_006714121 AAH28705;AAH41369;AAP13352;BAF83033;BAG36758;EAX06211;EAX06212;EAX06213;NP_001129729;NP_001129730;NP_689834;Q8NHU3;XP_006714184 Hs.595423 1645834;1651935;1700422;1761783;2172107 A005E06;RH103832;SHGC-145745;SHGC-59733;STS-H01973 MGC26963;SMS2 OTTHUMP00000162627;OTTHUMP00000162628;OTTHUMP00000162629;SM synthase;phosphatidylcholine:ceramide cholinephosphotransferase 2 APPROVED protein-coding ENSG00000164023 HGNC:28395 11323 611574 REVIEWED 6481373 SGOL1-AS1 SGOL1 antisense RNA 1 3 3 20215736 20227919 + 20174244 20186427 + 22365631 100874028 ABBA01025086;AC099057;AMYH02006370;BU156169;HG495534;HG495535;NR_046723 Hs.105153 AC099057.8 APPROVED ncrna ENSG00000237485 HGNC:41081 PREDICTED 1317616 SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 17 17 17 q21 44704243 44714136 + 48243240 48253293 + 50165879 50175932 + 1599344;1599345;1580863;6480464;6907045;7240710;8554872;8699517 8069911;9192266 10684260;10767327;10993904;11747090;12477932;15298081;15489334;15954112;16883602;18078839;18996010;20019182;20301582;21031578;21361872;21656825;21856579;21884196;22303798;23703062;24250222;7657792;7663524;7744812;7937874;8226900;8528203;8681137;9032047;9585331;9864373 6442 B7Z1L1;D6R9S3;D6RAA4;E9PCT8;H0Y8T1;H0YAB9;H7C5V0;Q16586 ABBA01041229;ABBA01041230;ABBA01041231;AC015909;AK290622;AK300710;AMYH02033585;BC025702;CH471109;F25770;L34355;L35853;L46810;NG_008889;NM_000023;NM_001135697;U08895;XM_005257574;XM_006722014 AAA35510;AAA50461;AAA81637;AAC37583;AAH25702;ABM84703;BAF83311;BAH13330;EAW94634;EAW94635;NP_000014;NP_001129169;Q16586;XP_005257631;XP_006722077 Hs.463412 1666753;1733774;1851240 D17S1319;G10719;STS-L34355 50-DAG;50DAG;50kD DAG;A2;ADL;DAG2;DMDA2;LGMD2D;SCARMD1;alpha-SG 50 kDa dystrophin-associated glycoprotein;OTTHUMP00000221051;OTTHUMP00000221052;OTTHUMP00000221053;OTTHUMP00000221059;adhalin;alpha-sarcoglycan;dystroglycan-2 APPROVED protein-coding ENSG00000108823 HGNC:10805 02525 600119;608099 REVIEWED 8662747 SGOL1P1 shugoshin-like 1 (S. pombe) pseudogene 1 1 1 70072538 70073984 - 69606855 69608301 - 100533666 ABBA01074498;AL359894;AMYH02001233;NG_028827 pseudo HGNC:50776 INFERRED 8662734 SGOL1P2 shugoshin-like 1 (S. pombe) pseudogene 2 7 7 52964020 52965501 - 52896327 52897808 - 100533661 ABBA01011824;AC092105;AMYH02015717;NG_028667 pseudo HGNC:50777 INFERRED 1354188 SGK3 serum/glucocorticoid regulated kinase family, member 3 This gene is a member of the Ser/Thr protein kinase family and encodes a phosphoprotein with a PX (phox homology) domain. The protein phosphorylates several target proteins and has a role in neutral amino acid transport and activation of potassium and chloride channels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 8 8 8 q12 63617793 63767751 + 67624653 67774257 + 66712418 66862022 + 1580863;6480464;8554872 10548550;10585774;11035810;11514587;11707620;11749387;11751930;11884598;12054501;12218062;12397388;12477932;12590200;12632189;12634932;14604990;15489334;15496163;15578212;15737648;16036218;16341674;16460280;16485113;16543730;16790420;16888620;17167223;19293151;20511718;20687898;21084382;21832049;21890473;21963094;21988832;22262416;22576469;22939624;23589291;24379398;24816145;8125298 23678 E5RHR8;E5RHX2;E5RHY6;E5RJV7;E5RK28;Q53EW6;Q5H9Q5;Q96BR1 ABBA01041880;ABBA01041881;ABBA01041882;AC011031;AC090154;AF085233;AF169035;AI127772;AK074666;AK223523;AK291428;AMYH02018112;AMYH02018113;AMYH02018114;AMYH02018115;AMYH02018116;AV714643;BC015326;BF665552;BI547053;BM739201;BQ777590;BU177012;CB995805;CH471068;CK822899;CQ783554;CR536581;CR933673;DB447859;HH961744;NM_001033578;NM_013257;NM_170709 AAF12758;AAF27051;AAH15326;BAD97243;BAF84117;BAG51984;CAF86721;CAG38818;CAI45969;CBX51345;EAW86919;EAW86920;NP_001028750;NP_037389;NP_733827;Q96BR1 Hs.613417;Hs.733251 1855803;2108465;2118769;2159639;2181656;5014740;5015619;5015861;5015961;5022322;5037552;7185938 D10S16;D11S2560;D11S3114;D15S1477;D17S610;D8S2279;SGKL_8014;SHGC-36195;STS-H98714;STS-N69197;STS-T86988 CISK;DKFZp781N0293;SGK2;SGKL OTTHUMP00000226962;OTTHUMP00000226963;OTTHUMP00000226965;OTTHUMP00000226966;OTTHUMP00000226969;cytokine-independent survival kinase;serine/threonine-protein kinase Sgk3;serum/glucocorticoid regulated kinase 3;serum/glucocorticoid regulated kinase-like;serum/glucocorticoid-regulated kinase 3;serum/glucocorticoid-regulated kinase-like APPROVED protein-coding ENSG00000104205 HGNC:10812 06349 607591 REVIEWED 1343984 SGPP1 sphingosine-1-phosphate phosphatase 1 Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009] 14 14 14 q23.2 44201594 44245417 - 64150934 64194756 - 63684216 63728041 - 1580863;6480464;6484113;6907045 10859351;11069896;12411432;12477932;12508121;12815058;15180992;15489334;16782891;17081983;17895250;19322201;19798445;20798685;21940944;22052905;22106015;22359512;24145350;24816145 81537 Q9BX95 ABBA01018335;AF349315;AJ293294;AK314188;AL161670;AMYH02029341;AMYH02029342;BC063839;BC070060;CH471061;NM_030791;XM_006720264 AAH63839;AAH70060;AAK26660;BAG36867;CAC17772;EAW80834;NP_110418;Q9BX95;XP_006720327 Hs.24678 1777677;2134114;2183828 G35499;RH17831;WI-16352 hSPP1;spp1 OTTHUMP00000028107;SPPase1;hSPPase1;sphingosine-1-phosphatase 1 APPROVED protein-coding ENSG00000126821 HGNC:17720 10226 612826 PROVISIONAL 1347742 SGPL1 sphingosine-1-phosphate lyase 1 ENCODES a protein that exhibits sphinganine-1-phosphate aldolase activity; INVOLVED IN apoptotic signaling pathway; ceramide metabolic process; fatty acid metabolic process; PARTICIPATES IN sphingosine 1-phosphate signaling pathway; sphingolipid metabolic pathway; FOUND IN endoplasmic reticulum; INTERACTS WITH dioxygen; paracetamol; sodium dichromate 10 10 10 q21 65857672 65923231 + 72575704 72640946 + 70815948 70881189 + 6480464;6484113;6907045 10574462;11018465;12477932;14570870;14702039;15342556;15489334;16385451;16777052;17090686;17373700;18029348;18172856;19119317;19322201;20519401;2061324;21139048;21184844;21304987;21368890;21565611;21890473;21903422;21906983;21963094;22190034;22784711;23000965;23956138;24255178;9464245 8879 H0Y3V8;H7BXL7;O95470 AB033078;ABBA01019635;AC073176;AF144638;AJ011304;AK023873;AK308610;AK314615;AMYH02023296;BC031338;BC041567;BC051238;BC052991;BC068061;BP314104;CH471083;CS479821;KF510344;NM_003901;XM_005270263;XM_006718052;XM_006718053 AAD44755;AAH52991;BAA86566;BAG37181;CAA09590;CAM35395;EAW54414;NP_003892;O95470;XP_005270320;XP_006718115;XP_006718116 Hs.499984 1644361;1650138;1654067;1684305;2150089;2161601;5093110 A009G12;G32525;RH27225;RH44692;SHGC-33649;SHGC-36893;WI-14267 FLJ13811;KIAA1252;S1PL;SPL;SPL 1;hSPL OTTHUMP00000019766;OTTHUMP00000019769;SP-lyase 1;sphingosine-1-phosphate aldolase protein-coding ENSG00000166224 HGNC:10817 07224 603729 VALIDATED 731028 SGK1 serum/glucocorticoid regulated kinase 1 This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009] 6 6 6 q23 135231367 135380168 - 134490384 134639196 - 134169246 134318058 - 1580863;1580967;1580968;1580969;1580970;2289157;6480464;6484113;6907045;8554872 11994539;12215463;15046873;15304560;16221215 10191262;10357815;10548550;10869359;10884438;11154281;11254654;11410590;11696533;11707620;11742982;11751930;12023960;12077559;12218062;12376324;12387817;12397388;12417559;12435876;12444200;12477932;12590200;12628440;12631736;12634932;12684516;12729930;12788082;12823993;12911626;12923071;14499622;14574404;14623317;14702039;14725621;15040001;15044175;15166308;15167446;15208094;15328345;15342340;15461589;15489334;15496163;15576372;15578212;15650334;15665527;15695387;15721303;15733869;15735679;15737648;15910284;16006511;16036218;16105029;16125969;16301823;16301825;16344560;16443776;16460280;16543730;16716084;16817852;16847254;16895519;16971495;17170520;17314099;17317952;17332896;17353931;17360471;17382906;17442044;17512525;17568772;17570343;17571248;17595519;17640988;17916563;17932503;17965184;17982254;17982255;17985234;18209482;18239069;18319604;18456663;18487207;18570873;18753299;18801914;18985156;19068477;19088076;19088452;19232516;19322201;19380724;19447520;19461886;19584721;19617352;19619128;19706464;19756449;19913121;19953087;19961832;20041238;20098747;20174665;20237237;20338997;20368287;20433920;20438709;20466724;20511718;20516150;20525693;20628086;20631247;20730100;20832730;20884880;20933037;20947508;21079778;21147854;21224398;21355052;21430556;21478911;21563193;21691090;21757730;21784856;21890473;21900244;21963094;21988832;22001908;22240294;22250980;22309306;22410793;22590650;22610502;22648267;22704443;22809514;22832853;22939624;23012321;23019294;23034940;23055545;23108393;23192594;23314748;23339546;23363009;23392695;23487453;23581296;23589291;23650397;23933686;24043625;24043696;24214981;24431232;9114008;9722955 6446 E9PJN2;E9PP33;E9PR89;H0YCJ3;O00141;Q7Z3I4 ABBA01025855;ABBA01025856;ABBA01025857;ABBA01025858;ABBA01025859;ABBA01025860;ABBA01025861;ABBA01025862;AF153609;AF460178;AJ000512;AK055077;AK098509;AK293383;AK295422;AK298688;AL135839;AL355881;AMYH02014525;AMYH02014526;AMYH02014527;AMYH02014528;BC001263;BC013832;BP384292;BQ183142;BX649005;CH471051;DA309338;DB450096;DC428953;EU518415;FM205707;FM205708;FM205709;FM205710;JQ836654;KF458297;NM_001143676;NM_001143677;NM_001143678;NM_001291995;NM_005627;Y10032;Z84486 AAD41091;AAH01263;AAN40971;ACD35864;AFJ04414;BAG51463;BAH11497;BAH12061;BAH12848;CAA04146;CAA71138;CAH10381;CAR58095;CAR58096;CAR58097;CAR58098;EAW47991;EAW47992;EAW47993;NP_001137148;NP_001137149;NP_001137150;NP_001278924;NP_005618;O00141 Hs.510078 1647094;1681328;1694222;1769409;1794980;2123364;2128089;2138769;2157385;2163097;2187345;5116972;5491443 AL008757;AL022528;D9S233;MARC_12229-12230:1007996328:1;PMC86685P1;RH102;RH16308;RH80261;STS-H74007;STS-H95353;STS-T33566;WI-13202;ha3097 SGK OTTHUMP00000017246;OTTHUMP00000017247;OTTHUMP00000017248;OTTHUMP00000017249;OTTHUMP00000234028;OTTHUMP00000234029;Sgk1 variant i3;serine/threonine protein kinase SGK;serine/threonine-protein kinase Sgk1;serum/glucocorticoid-regulated kinase 1 APPROVED protein-coding ENSG00000118515 HGNC:10810 04264 602958 REVIEWED 1345995 SGSH N-sulfoglucosamine sulfohydrolase This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 74812270 74823389 - 78180515 78194199 - 80207054 80220400 - 1580332;1580333;1580863;6480464;7240710;8554872;8699517 15146460;15902564 10521831;10727844;11343308;11668611;11793481;12477932;12702166;12754519;14702039;15489334;18407553;20237496;21550404;21671382;21890473;22268729;22939629;6796310;7493035;8125298;8946167;9158154;9285796;9401012;9405287;9554748;9700599;9744479 6448 I3L0M2;I3L207;I3L2I6;I3L2L4;I3L3T3;I3L4B7;I3L4C9;I3NI22;P51688 AB209900;ABBA01015407;AC087741;AC123764;AK095969;AK222890;AK291257;AK304706;AK309927;AMYH02034102;AW274014;BC047318;BF445930;CH471099;DC319407;NG_008229;NM_000199;U30894;U60111;XM_005257582;XM_005257583;XR_429917 AAA86530;AAB17952;AAH47318;BAD93137;BAD96610;BAF83946;BAG53179;BAH14242;EAW89590;EAW89591;NP_000190;P51688;XP_005257639;XP_005257640 Hs.31074 1684355;1710780;2157958;5015619 D11S3114;RH78492;RH79914;SHGC-84063 HSS;MPS3A;SFMD N-sulphoglucosamine sulphohydrolase;heparan sulfate sulfatase;mucopolysaccharidosis type IIIA;sulfoglucosamine sulfamidase;sulphamidase APPROVED protein-coding ENSG00000181523 HGNC:10818 05590 252900;605270 REVIEWED 1344948 SGOL1 shugoshin-like 1 (S. pombe) ENCODES a protein that exhibits kinase binding; INVOLVED IN attachment of spindle microtubules to kinetochore; centriole-centriole cohesion; chromosome segregation; FOUND IN centrosome; chromosome, centromeric region; condensed chromosome, centromeric region; INTERACTS WITH 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine 3 3 3 p24.3 20142704 20168302 - 20202085 20227724 - 20160593 20186232 - 737633;6480464 12477932 12747765;14702039;15489334;15604152;15723797;15737064;16112668;16344560;16541024;16541025;16580887;16582621;16628005;16682347;17322402;17448445;17617734;17621308;18084284;18331714;18635744;18716626;19015261;19156129;19322201;19465021;19716788;19850743;20231385;20360068;20379614;20384790;20562864;20739936;21346195;21532624;21875947;21890473;22161216;22365631;22374677;23564482;23850494;23953852;24055156 151648 B5BUA4;F8WB17;Q5FBB7 AB187577;AB187578;AB187579;AB187580;AB187581;AB187582;AB190994;AB193056;AB193057;AB193058;AB193059;AB193060;AB193061;AB193062;AB193063;AB193064;AB193065;AB193066;AB451340;AB451489;AB567656;AB567657;ABBA01025086;AC099057;AF308299;AK024292;AK308095;AMYH02006369;AMYH02006370;BC001339;BC017867;BC032696;BC039605;BG530826;BX648516;CH471055;DB163747;NM_001012409;NM_001012410;NM_001012411;NM_001012412;NM_001012413;NM_001199251;NM_001199252;NM_001199253;NM_001199254;NM_001199255;NM_001199256;NM_001199257;NM_138484;XM_006712986;XM_006712987 AAG48266;AAH01339;AAH17867;AAH32696;BAD89587;BAD89588;BAD89589;BAD89590;BAD89591;BAD89592;BAD91318;BAD95529;BAD95530;BAD95531;BAD95532;BAD95533;BAD95534;BAD95535;BAD95536;BAD95537;BAD95538;BAD95539;BAG70154;BAG70303;BAJ79291;BAJ79292;EAW64307;EAW64308;EAW64309;EAW64310;NP_001012409;NP_001012410;NP_001012411;NP_001012412;NP_001012413;NP_001186180;NP_001186181;NP_001186182;NP_001186183;NP_001186184;NP_001186185;NP_001186186;NP_612493;Q5FBB7;XP_006713049;XP_006713050 Hs.105153 5015619;5037552;5109663;5117897 D11S3114;D7S2067E;D8S2279;GDB:631813 FLJ14230;NY-BR-85;SGO;Sgo1;hSgo1 OTTHUMP00000161045;OTTHUMP00000207982;OTTHUMP00000208163;OTTHUMP00000208164;OTTHUMP00000208165;OTTHUMP00000208166;OTTHUMP00000208167;OTTHUMP00000208168;OTTHUMP00000208169;OTTHUMP00000208170;OTTHUMP00000208171;OTTHUMP00000208172;OTTHUMP00000208174;OTTHUMP00000208175;OTTHUMP00000208176;serologically defined breast cancer antigen NY-BR-85;shugoshin 1AB protein;shugoshin 1CD protein;shugoshin 1EF protein;shugoshin 1GH protein;shugoshin 1KL protein;shugoshin-like 1 protein-coding ENSG00000129810 HGNC:25088 12377 609168 VALIDATED 1317805 SGSM1 small G protein signaling modulator 1 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; potassium dichromate 22 22 22 q11.23 9006548 9127191 + 25202136 25322813 + 24806169 24926846 + 737633;6480464;8554872 12477932 11853319;17509819;19077034;19913121;20379614;20628086;22637480;8889548 129049 Q2NKQ1 AB075821;AB275761;AB449879;ABBA01055155;ABBA01055156;ABBA01055157;ABBA01055158;ABBA01055159;ABBA01055160;AK123162;AK124850;AL049759;AL050312;AMYH02038151;AP000359;AW028652;BC036915;BC111698;BM930881;NM_001039948;NM_001098497;NM_001098498;NM_133454 BAB85527;BAF63511;BAH16622;NP_001035037;NP_001091967;NP_001091968;NP_597711;Q2NKQ1 Hs.474397;Hs.620906 1774823;1784506;1784524;1854055;2131368;5037552;5118444 D0S2249;D11S3316;D22S603;D8S2279;RH78632;SHGC-144873;SHGC-170350 KIAA1941;MGC133298;RUTBC2 OTTHUMP00000198601;OTTHUMP00000198602;RUN and TBC1 domain containing 2;RUN and TBC1 domain-containing protein 2;small G protein signaling modulator 1 protein protein-coding ENSG00000167037 HGNC:29410 611417 VALIDATED 1315867 SGSM2 small G protein signaling modulator 2 ENCODES a protein that exhibits Rab GTPase activator activity; Rab GTPase binding; INVOLVED IN late endosome to Golgi transport; positive regulation of GTP catabolic process; positive regulation of Rab GTPase activity; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 2-methylcholine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 p13.3 2256908 2300461 + 2240806 2284353 + 2337512 2381059 + 737633;6480464;8554872 12477932 16169070;17509819;19077034;19584346;21808068;21873549;9455477 9905 B9A6J3;I3L1Y7;I3L361;I3NI18;J3QSA2;O43147;V9GYD2;V9GYJ0 AB007857;AB275762;AB449878;ABBA01054701;ABBA01054702;AC006435;AK124883;AK125203;AK294955;AK304263;AL450226;AMYH02032772;BC029251;BC039204;BC061895;CH471108;NM_001098509;NM_014853;XM_006721613;XM_006721614 AAH39204;BAA23693;BAC86084;BAF63512;BAG58030;BAG65127;BAH16621;EAW90545;EAW90546;EAW90547;NP_001091979;NP_055668;O43147;XP_006721676;XP_006721677 Hs.513861 1680044;1728505;1729564;1734420;2174346;5123729;7184721 D17S1397E;D17S379;G63690;RH41934;RH91781;SHGC-30137 KIAA0397;RUTBC1 RUN and TBC1 domain containing 1;RUN and TBC1 domain-containing protein 1;small G protein signaling modulator 2 protein protein-coding ENSG00000141258 HGNC:29026 15284 611418 VALIDATED 1353613 SGSM3 small G protein signaling modulator 3 ENCODES a protein that exhibits Rab GTPase activator activity; Rab GTPase binding; INVOLVED IN plasma membrane to endosome transport; positive regulation of GTP catabolic process; positive regulation of Rab GTPase activity; FOUND IN cytosol; INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; copper(2+) sulfate 22 22 22 q13.1-q13.2 24568657 24608354 + 40766571 40806293 + 40370567 40410289 + 737633;6480464 12477932 11214971;12771190;14702039;15461802;15541357;15709751;16086013;16923123;17174262;17267689;17509819;17562788;17646400;19077034;19570815;21900206;21906983;22505724;23918301;24189493 27352 B0QY80;B0QY81;B4DMS2;B4DVE3;B9A6J5;H0Y7V2;Q96HU1 AB196956;AB275763;AB449880;ABBA01055602;AK000006;AK295469;AK297599;AK301042;AK309400;AL022238;AL137499;AMYH02038403;AMYH02038404;AMYH02038405;AW512418;AY308849;BC008078;BC127850;BG741967;BP283990;BU585020;CH471095;CR456441;HY229847;NM_001301849;NM_015705;XM_005261572;XM_005261573;XM_005261574;XM_005261575;XM_005261577;XM_005261579;XR_244369;XR_244370 AAH08078;AAI27851;AAQ81879;ABM84197;ABM87601;BAA92231;BAE02561;BAF63513;BAG58399;BAG59984;BAG62655;BAH16623;CAB70773;CAG30327;CAK54470;CAK54769;EAW60378;EAW60379;EAW60380;EAW60381;NP_001288778;NP_056520;Q96HU1;XP_005261629;XP_005261630;XP_005261631;XP_005261632;XP_005261634;XP_005261636 Hs.474914 1665089;1665091;1855995;2191489;5122766 A006A20;G20649;MARC_23909-23910:1031838934:1;NIB2041;SGC30681 DKFZp761D051;MAP;RABGAP5;RUSC3;RUTBC3;RabGAP-5 OTTHUMP00000199241;RUN and SH3 containing 3;RUN and TBC1 domain containing 3;RUN and TBC1 domain-containing protein 3;merlin binding protein;merlin-associated protein;rab-GTPase-activating protein-like protein;rabGAPLP;small G protein signaling modulator 3 protein protein-coding ENSG00000100359 HGNC:25228 15285 610440 VALIDATED 736917 SH2B2 SH2B adaptor protein 2 The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009] 7 7 7 q22 96937415 96974023 + 101928405 101962178 + 102285068 102321711 + 1625124;6480464;6484113;6907045 17347799 10196204;10374881;10872802;11751854;11997497;12101115;12400014;15031295;15231829;15737992;15767667;15946664;16141217;16273093;17548467;17620296;18273061;19293402;20237496;23190452;9233773;9799793;9856458;9989826 10603 C9JK89;F5GY53;O14492 AB000520;ABBA01011293;ABBA01011294;ABBA01011295;AC005088;AC091390;AMYH02016432;AMYH02016433;AMYH02016434;AMYH02016435;BF309652;BF434397;BI261466;CB053166;CH471197;DN995670;NG_033220;NM_020979;XM_005276975;XM_005276976;XM_005276977;XM_005276979 BAA22514;EAW50232;EAW50233;NP_066189;O14492;XP_005277032;XP_005277033;XP_005277034;XP_005277036 Hs.489448 2122952;2155102;2157914;2159815 GDB:4585353;GDB:4585751;RH44454;WI-21075 APS SH2 and PH domain-containing adapter protein APS;SH2B adapter protein 2;adapter protein with pleckstrin homology and Src homology 2 domains;adaptor protein with pleckstrin homology and src;adaptor protein with pleckstrin homology and src homology 2 domains APPROVED protein-coding ENSG00000160999 HGNC:17381 16097 605300 REVIEWED 1346522 SGPP2 sphingosine-1-phosphate phosphatase 2 Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP2 catalyzes the degradation of S1P (Ogawa et al., 2003 [PubMed 12411432]).[supplied by OMIM, Jun 2009] 2 2 2 q36.1 217107484 217191808 + 223288771 223427342 + 222424052 222562623 + 1302442;1580863;6480464;6907045;8554872 12411432 12477932;14702039;17113265;23568457;24274704 130367 Q53QF5;Q8IWX5 ABBA01023813;ABBA01023814;AC097461;AC112718;AF542512;AK096323;AK314322;AMYH02005858;AMYH02005859;AMYH02005860;BC106904;BC106905;BC114513;BC134342;CH471063;NM_152386;XM_005246297 AAI06905;AAI06906;AAI34343;AAN28731;AAX88957;AAY24195;BAC04762;BAG36970;EAW70801;NP_689599;Q8IWX5;XP_005246354 Hs.591604 1337779;1704240;1717929;1727549;1757735;1783978;1784110;5015619 D11S3114;D2S2300;G63032;RH122791;SHGC-141517;SHGC-146400;SHGC-153751;SHGC-83242 FLJ39004;SPP2;hSPP2 OTTHUMP00000164206;SPPase2;sphingosine 1-phosphate phosphohydrolase 2;sphingosine-1-phosphatase 2;sphingosine-1-phosphate phosphotase 2 APPROVED protein-coding HGNC:19953 18048 612827 PROVISIONAL 735887 SGTA small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008] 19 19 19 p13 2691048 2719238 - 2754711 2783363 - 2754714 2783356 - 1580863;6480464 10567422;11076863;11230166;11256614;11878889;12477932;12482202;12735788;12815268;14623262;14667819;14729056;15057824;15302935;15489334;15489336;15710426;15972823;16169070;16189514;16196087;16381901;16580629;16777091;16964243;17081983;17558393;17942943;18332089;18607086;18759457;19615732;20012522;20200332;20516149;20639865;21139048;2158125;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22505724;22693264;22733359;22779921;22863883;22939629;23000965;23129660;23142665;23246001;23433514;23533635;23740762;23839012;23857189;23939810;24195513;24250222;24753260;24816145;24974147;25015289;25036637;7966229;9557704;9573291;9740675;9766974 6449 K7EMD6;K7ERW5;O43765 ABBA01002769;AC006538;AF368279;AF408399;AJ133129;AJ223828;AK293535;AL050156;AMYH02035217;BC000390;BC002989;BC005165;BC008885;BG423904;CH471139;CR533517;CR542282;NM_003021 AAD13117;AAH00390;AAH02989;AAH05165;AAH08885;AAL01051;AAP29457;BAG57017;CAA11565;CAB39725;CAB43297;CAG38548;CAG47077;CAL38336;EAW69366;EAW69367;EAW69368;NP_003012;O43765 Hs.203910 2129968;2162433;2165179;2172766 A007K05;D19S1028;RH11023;RH77778 SGT;UBP;alpha-SGT;alphaSGT;hSGT protein containing three tetratricopeptide repeats;small glutamine-rich tetratricopeptide repeat (TPR)-containing;small glutamine-rich tetratricopeptide repeat-containing protein alpha;vpu-binding protein APPROVED protein-coding ENSG00000104969 HGNC:10819 04568 603419 REVIEWED 68607 SH2B3 SH2B adaptor protein 3 This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014] 12 12 12 q24 111470186 111515861 + 111843720 111889427 + 111405917 111451623 + 6480464;6484113;6907045;7240710;8554872;8699517 10799879;11163396;11805142;12477932;16273093;16644735;17007883;17554300;18029348;18311140;18588518;18593762;18805825;19073967;19198610;19264985;19293402;19322201;19375649;19430479;19430480;19430483;19693089;19838195;19860791;19862010;19913121;19951419;20139978;20190752;20237496;20404132;20453842;20508602;20546165;20560212;20586186;20647273;20724988;20843259;20971364;21045733;21060863;21310211;21378990;21383967;21496118;21794913;21829393;21909115;21922527;21990094;22028877;22139419;22441983;22493691;22561518;22916186;23222517;23417110;23812944;23844121;23908464;24026423;24262325;24297922;24390342;8649391;8995445;9169414 10019 B7Z7K6;F5GYM4;Q59H48;Q96BA5;Q9UQQ2;R4GN84 AB208911;ABBA01019888;ABBA01019889;ABBA01019890;AC002395;AC005805;AF055581;AJ012793;AK025666;AK025745;AK302173;AMYH02027204;AMYH02027205;BC015786;BC136451;CH471054;HI573956;NG_021216;NM_001291424;NM_005475;XM_005253818;XM_005253819;XM_006719180 AAC71695;AAH15786;AAI36452;BAD92148;BAH13642;CAB42642;CBX47467;EAW97955;EAW97956;NP_001278353;NP_005466;Q9UQQ2;XP_005253875;XP_005253876;XP_006719243 Hs.506784 1652426;1667337;1673432;1796258;2140147 D12S2142;LNK_1461;RH15682;RH44606;SGC35065 IDDM20;LNK OTTHUMP00000241520;OTTHUMP00000241521;SH2B adapter protein 3;lymphocyte-specific adapter protein Lnk;signal transduction protein Lnk APPROVED protein-coding ENSG00000111252 HGNC:29605 05480 133100;187950;254450;605093 REVIEWED 1606747 SH2D1B SH2 domain containing 1B By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008] 1 1 1 q23.3 135468132 135485005 - 162365056 162381928 - 162395266 162412138 - 6480464 11244050;11689425;12115647;12477932;12787752;12928397;14702039;15489334;16273093;16425036;16710414;16920955;21832049;21988832;22974441;24687958;9000139 117157 O14796 ABBA01047305;ABBA01047306;AF020264;AF256653;AF403479;AF484964;AK097162;AK314743;AL512785;AL709120;AMYH02002038;BC022407;BC066595;CH471067;NM_053282 AAB70927;AAH22407;AAH66595;AAL26000;AAL27357;AAM28522;ABM82901;ABM86092;BAC04968;BAG37283;EAW90703;EAW90704;EAW90705;NP_444512;O14796 Hs.350581 EAT-2;EAT2 EWS/FLI1-activated transcript 2;OTTHUMP00000029531;SH2 domain-containing molecule EAT2;SH2 domain-containing protein 1B APPROVED protein-coding ENSG00000198574 HGNC:30416 12248 608510 VALIDATED 1603671 SH2B1 SH2B adaptor protein 1 This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 16 16 16 p11.2 27829836 27840291 + 28872939 28885534 + 28846600 28874213 + 2302071;6480464;6907045;8554872 15316008 10594240;10708759;10718198;10757801;11827956;11940664;12074588;12370803;12421765;12477932;12551917;14702039;15767667;16273093;16344560;17228025;17471236;17565041;19079260;19079261;19164386;19293402;19342444;19692490;19746409;19851340;19910938;20215397;20386550;20571754;20616199;20712903;20724581;20725061;20808231;20816152;20816195;20935630;21045733;21102463;21566085;21750520;21796141;21907990;21988832;22248999;22443470;22901222;22942098;22974441;23054017;23121087;23160192;23190452;23270367;23519644;23563607;23640704;23825611;24103803;24621099;24736401;9343427;9742218;9856458 25970 B3KNV5;B4DLN5;F5GXU7;H3BMY3;H3BPB4;H3BPZ4;H3BTK4;H3BTT2;H3BUN7;H3BVF6;Q9NRF2 AB037720;ABBA01045685;AC133550;AF227967;AF227968;AF227969;AK027488;AK055104;AK290332;AK297080;AK298569;AL049924;AL713760;AMYH02031815;BC010704;CH471267;DA490578;DB026545;NG_029706;NM_001145795;NM_001145796;NM_001145797;NM_001145812;NM_015503;XM_005255240;XM_006721031;XM_006721032;XM_006721033;XM_006721034;XM_006721035;XM_006721036;XM_006721037 AAF73912;AAF73913;AAF73914;AAH10704;BAA92537;BAB55148;BAF83021;BAG51467;BAG59597;BAG60762;CAB43208;CAD28530;EAW51999;EAW52000;EAW52001;EAW52002;EAW52003;EAW52004;EAW52005;NP_001139267;NP_001139268;NP_001139269;NP_001139284;NP_056318;Q9NRF2;XP_005255297;XP_006721094;XP_006721095;XP_006721096;XP_006721097;XP_006721098;XP_006721099;XP_006721100 Hs.15744 1681849;2110729;5109281 D1S1425;SH2B_9440;SHGC-61052 DKFZp547G1110;FLJ30542;KIAA1299;PSM;SH2B SH2 domain-containing protein 1B;SH2 domain-containing putative adapter SH2-B;SH2-B signaling protein;SH2B adapter protein 1;pro-rich, PH and SH2 domain-containing signaling mediator APPROVED protein-coding ENSG00000178188 HGNC:30417 12336 608937 REVIEWED 1346207 SH2D1A SH2 domain containing 1A This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q25 123864695 123891574 + 123480132 123507010 + 124346282 124373160 + 1580863;6480464;6907045;7240710;8554872;8699517 10089404;10549287;10607564;10852966;11034354;11054674;11282995;11313386;11389028;11477068;11477403;11489943;11493483;11803050;11806999;11815622;12008045;12115647;12152986;12356686;12458214;12477932;12545174;12594824;12621057;12766168;12928397;12951057;14523387;14674764;14707094;14726378;15096483;15169881;15195244;15315965;15320910;15356108;15378026;15489334;15661039;15677558;15711562;15722257;15738056;15772651;16002423;16223723;16273093;16344560;16983070;17171759;17289546;17455312;17620557;17643931;17692919;17785286;17922402;18000860;18024409;18031694;18051214;18212118;18479751;18587224;18662772;18832568;18951976;19079134;19150402;19322201;19570996;19759517;19859091;20301580;20926771;20975587;21091715;21119115;21674762;22048771;22069374;22271700;22425739;22438812;22505724;22912825;23165210;23503679;23554038;23589280;24373350;24388971;24659462;24688028;24816145;8361760;8387453;9130707;9235954;9771704;9774102;9811875;9856458 4068 O60880 AA190204;AB586694;ABBA01036455;ABBA01036456;ABBA01036457;ABBA01036458;ABBA01036459;AF072930;AF073019;AF100539;AF100540;AF100541;AF100542;AF100543;AK311645;AK311911;AL022718;AL023657;AMYH02040424;AMYH02040425;BC020732;BP432686;CH471107;CR542031;CR542043;DA007747;GM741641;HB441350;JX512648;NG_007464;NG_033796;NM_001114937;NM_002351 AAC62630;AAC62631;AAC79712;AAC79713;AAC79714;AAC79715;AAC79716;AAH20732;ABM86090;ABW03773;AFX84035;BAG34852;BAJ19023;CAA19222;CAG46828;CAG46840;CAV31693;CAZ78681;EAX11847;EAX11848;EAX11849;EAX11850;EAX11851;NP_001108409;NP_002342;O60880 Hs.349094 1690085 RH93240 DSHP;EBVS;FLJ18687;FLJ92177;IMD5;LYP;MTCP1;SAP;SAP/SH2D1A;XLP;XLPD;XLPD1 Duncan disease SH2-protein;OTTHUMP00000023976;OTTHUMP00000226563;SH2 domain-containing protein 1A;SLAM associated protein/SH2 domain protein 1A;SLAM-associated protein;T cell signal transduction molecule SAP;T-cell signal transduction molecule SAP;signaling lymphocyte activation molecule-associated protein;signaling lymphocytic activation molecule-associated protein APPROVED protein-coding ENSG00000183918 HGNC:10820 02390 300490;308240 REVIEWED 1345635 SH2D2A SH2 domain containing 2A This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 1 1 1 q21 129847281 129857885 - 156776035 156786640 - 156806243 156816848 - 1358573;1580863;2298729;2298871;2298870;2298532;6480464;6484113;6907045 11528519;15129233;16376520;17658244;18554728 10553045;10587356;10692392;10752626;11073940;12477932;12640115;15489334;15592455;15752554;15752563;15962004;16273093;16344560;16710414;16806069;17327418;18160104;18533279;18541536;19240061;19561400;19913121;20305788;20628086;21696499;21988832;8125298;9468509 9047 Q5UBZ2;Q5UBZ3;Q9NP31 ABBA01016643;AF051325;AF097744;AF106072;AJ000553;AK222737;AK313706;AL158169;AL590666;AMYH02001982;AY763098;AY763099;AY763100;BC012107;BQ012931;CH471121;DB128222;NG_016849;NM_001161441;NM_001161442;NM_001161443;NM_001161444;NM_003975;XM_006711615 AAC99298;AAF43260;AAF69027;AAH12107;AAV34673;AAV34674;AAV34675;ACE87018;ACE87705;BAD96457;BAG36451;CAA04185;EAW52905;EAW52906;EAW52907;NP_001154913;NP_001154914;NP_001154915;NP_001154916;NP_003966;Q9NP31;XP_006711678 Hs.103527 1773352;2217974 RH47613;SH2D2A_3029 F2771;SCAP;TSAD;VRAP OTTHUMP00000038737;OTTHUMP00000038738;SH2 domain protein 2A;SH2 domain-containing protein 2A;T cell specific adapter protein TSAd;T lymphocyte specific adaptor protein;VEGF receptor-associated protein APPROVED protein-coding ENSG00000027869 HGNC:10821 05152 604514 REVIEWED 1318224 SGOL2 shugoshin-like 2 (S. pombe) INVOLVED IN meiotic sister chromatid cohesion, centromeric (inferred); mitotic cell cycle (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN chromosome, centromeric region; mitotic cohesin complex; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 q33.1 195145716 195203700 + 201390865 201448818 + 200526142 200584095 + 6480464;8554872 11076863;11230166;12477932;14702039;15174051;15489334;15489336;15815621;16344560;16381901;16541025;16565220;17353931;17485487;18029348;18084284;19898482;20360068;20739936;20889715;21139048;23667531 151246 B7Z7S9;C9JW92;Q562F6 ABBA01062516;AC012459;AC080164;AK057940;AK095291;AK302457;AMYH02005538;AY094614;BC004567;BC035764;BC048349;BC092412;BC110583;BX647433;CH471063;DB369428;NM_001160033;NM_001160046;NM_152524;XM_005246344;XM_005246345;XM_006712330 AAH35764;AAH48349;AAH92412;AAM21971;AAY24264;AAY24310;BAB71617;BAC04524;BAH13715;CAL37460;CAL37862;EAW70207;NP_001153505;NP_001153518;NP_689737;Q562F6;XP_005246401;XP_005246402;XP_006712393 Hs.655182 1761525 SHGC-145527 FLJ25211;MGC129665;SGO2 OTTHUMP00000205956;TRIPIN;shugoshin-2;shugoshin-like 2 protein-coding ENSG00000163535 HGNC:30812 11555 612425 VALIDATED 1348075 SH2D3A SH2 domain containing 3A ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (inferred); SH3/SH2 adaptor activity (inferred); INVOLVED IN JNK cascade (inferred); positive regulation of GTPase activity (inferred); positive regulation of signal transduction (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; disodium selenite 19 19 19 p13.3 6694421 6709773 - 6752171 6767531 - 6752160 6767512 - 1580863;6480464 10187783;11875519;12477932;12975309;14702039;15489334;15778465;16273093;17270363;17427198;21906983;8125298 10045 A8K2M8;M0QZQ6;Q9BRG2 ABBA01051474;AC008760;AC020954;AF124249;AK024368;AK225386;AK290293;AK292781;AK299406;AK310659;AMYH02035362;AY358406;BC006281;CH471139;NM_005490;XM_005259467;XM_005259472;XM_005259474;XM_006722602 AAD28244;AAH06281;AAQ88772;ABM83676;ABM86973;BAF82982;BAF85470;BAG61389;EAW69059;NP_005481;Q9BRG2;XP_005259524;XP_005259529;XP_005259531;XP_006722665 Hs.439645 1684668;1699522;2109829;5016478;5016596;5020881;5020948;5022322;5022578;5037552;5109281 D11S2560;D1S1423;D1S1425;D8S2279;G35510;GDB:434012;GDB:631802;L17709;RH103355;RH98924;SH2D3A_9033 NSP1 SH2 domain-containing 3A;SH2 domain-containing protein 3A;novel SH2-containing protein 1 protein-coding ENSG00000125731 HGNC:16885 05283 604721 VALIDATED 1323129 SH2D4B SH2 domain containing 4B 10 10 10 q23.1 76287936 76398071 + 82297658 82406316 + 80537902 80646560 + 6480464 14702039;20379614;22864933 387694 B1AVV4;Q5SQS7 ABBA01003790;ABBA01003791;ABBA01003792;ABBA01003793;ABBA01003794;ABBA01003795;AC021028;AK091518;AK123885;AK123978;AL731544;AMYH02023423;AMYH02023424;NM_001145719;NM_207372 BAC85715;BAC85741;NP_001139191;NP_997255;Q5SQS7 Hs.147643 1714019;1747897;2219690 G66838;RH119440;SH2D4B__5396 FLJ41984 OTTHUMP00000019987;OTTHUMP00000059796;SH2 domain-containing protein 4B;novel SH2 domain-containing protein protein-coding ENSG00000178217 HGNC:31440 18050 VALIDATED 1606407 SH2D6 SH2 domain containing 6 INTERACTS WITH paracetamol; N-nitrosodiethylamine (ortholog) 2 2 2 p11.2 85490191 85492425 + 85660108 85664180 + 85431222 85437029 + 6480464 12477932;14702039;18464913 284948 Q2YDT5;Q7Z4S9 ABBA01075749;AC016753;AF450483;AK093312;AMYH02004181;AY517502;BC110073;NM_198482;XM_006711993;XM_006711994 AAI10074;AAP97677;AAR98781;BAG52686;NP_940884;Q7Z4S9;XP_006712056;XP_006712057 Hs.209542 1709906 SHGC-84800 FLJ35993 OTTHUMP00000160679;SH2 domain-containing protein 6 protein-coding ENSG00000152292 HGNC:30439 14156 PROVISIONAL 2923266 SH2D7 SH2 domain containing 7 15 15 15 q25.1 55320939 55332405 + 78384927 78396393 + 78092585 78104564 + 6480464 11181995;16572171 646892 A6NKC9;B8ZZB5 ABBA01060579;AC090260;AMYH02030859;CH471136;NM_001101404;XM_006720642 A6NKC9;EAW99187;NP_001094874;XP_006720705 Hs.569511 OTTHUMP00000205438;OTTHUMP00000205439;Putative SH2 domain-containing protein LOC646892;SH2 domain protein-like;SH2 domain-containing protein 7;hCG38941 protein-coding ENSG00000183476 HGNC:34549 VALIDATED 1353974 SGTB small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; copper atom 5 5 5 q12.3 61960213 62016409 - 64961755 65018648 - 65665928 65722821 - 737633;1580863;6480464 12477932 14702039;15489334;16189514;17207965;21139048;2158125;21890473;21906983;21988832;23000965 54557 D6RFW1;Q96EQ0 ABBA01048324;ABBA01048325;ABBA01048326;ABBA01048327;ABBA01048328;AC008560;AC008958;AF075050;AF368281;AK096321;AL713334;AMYH02011430;BC012044;CH471137;NM_019072;XM_005248548 AAC28459;AAH12044;AAP29459;ADQ31912;BAC04761;EAW51342;NP_061945;Q96EQ0;XP_005248605 Hs.482301 1646543;1648646;1652922;1709478;1773991;1849642;5015861;5037552;5109283;7185938 D10S16;D1S1431;D8S2279;IB2013;RH66359;SHGC-81792;STS-N23147;STS-R61558;WI-15163 FLJ39002;SGT2 OTTHUMP00000123451;beta-SGT;small glutamine rich protein with tetratricopeptide repeats 2;small glutamine-rich protein with tetratricopeptide repeats 2;small glutamine-rich tetratricopeptide repeat-containing protein beta protein-coding ENSG00000197860 HGNC:23567 18049 VALIDATED 1346069 SH3BGR SH3 domain binding glutamate-rich protein ENCODES a protein that exhibits SH3 domain binding (inferred); SH3/SH2 adaptor activity (inferred); INVOLVED IN positive regulation of signal transduction (inferred); protein complex assembly (inferred); FOUND IN cytosol; INTERACTS WITH 17beta-estradiol; aflatoxin B1; copper atom 21 21 21 q22.3 26015495 26085127 + 40817797 40887433 + 39445869 39515506 + 1580863;6480464 10830953;12358155;12477932;14767758;15489334;16780588;18654987;19460752;20532202;24250222;8889548;9050928 6450 C9JJT2;C9JX40;H7C1Y8;H7C2G0;H7C3V3;P55822 ABBA01009334;ABBA01009335;ABBA01009336;ABBA01009337;AF121781;AF121897;AI338732;AL163279;AL163280;AMYH02037834;BC006371;BM474020;BM697281;BT006994;CH471079;KF510561;NM_001001713;NM_007341;X93498;XM_005261023;XM_005261024;XM_005261025;XM_006724041;XM_006724042 AAD12067;AAH06371;AAP35640;ACT64582;ACT64583;ADZ15842;CAB57259;CAB90445;CAB90456;EAX09637;EAX09638;EAX09639;EAX09640;NP_001001713;NP_031367;P55822;XP_005261080;XP_005261081;XP_005261082;XP_006724104;XP_006724105 Hs.473847 1340425;1719243;1784420;1817506;1818018;1828482;1831998;1832526;1833152;1838494;1844716;1899648;1899650;1899652;1899654;1899656;1899658;1899660;1899662;1899664;1899666;1899668;1899670;1899672;1899674;1899676;1899678;1899680;1899682;1899684;1899686;1899688;1899690;1899692;1899694;1899696;1899698;1899700;1899702;1899704;1899706;1899708;1899710;1899712;1899714;1899716;1899718;1899720;1899722;1899724;1899726;1899728;1899730;1899732;2108467;2149039;2203266;2203268;2203270 D21S1246;ECD09803;ECD10065;ECD15368;ECD17137;ECD17403;ECD17718;ECD20421;ECD23573;REN20622;REN20623;REN20624;REN20625;REN20626;REN20627;REN20628;REN20629;REN20630;REN20631;REN20632;REN20633;REN20634;REN20635;REN20636;REN20637;REN20638;REN20639;REN20640;REN20641;REN20642;REN20643;REN20644;REN20645;REN20646;REN20647;REN20648;REN20649;REN20650;REN20651;REN20652;REN20653;REN20654;REN20655;REN20656;REN20657;REN20658;REN20659;REN20660;REN20661;REN20662;REN20663;REN20664;RH123342;RH45907;SH3BGR_8620;SHGC-106900;stSG622788;stSG622789;stSG622790 21-GARP 21-glutamic acid-rich protein;OTTHUMP00000082771;OTTHUMP00000082772;OTTHUMP00000082773;OTTHUMP00000109161;OTTHUMP00000109177;OTTHUMP00000207539;OTTHUMP00000207540;OTTHUMP00000210782;SH3 domain binding glutamic acid-rich protein;SH3 domain-binding glutamic acid-rich protein;SH3-binding domain and glutamic acid-rich protein APPROVED protein-coding ENSG00000185437 HGNC:10822 03753 602230 VALIDATED 1352415 SH3BGRL SH3 domain binding glutamate-rich protein like ENCODES a protein that exhibits SH3 domain binding (inferred); SH3/SH2 adaptor activity (inferred); INVOLVED IN positive regulation of signal transduction (inferred); FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; arsenous acid; benzo[a]pyrene diol epoxide I X X X q13.3 80697460 80794205 + 80457303 80554046 + 81201804 81298547 + 1580863;6480464 11230166;12477932;15146197;15489334;15772651;1602151;16080146;16130169;16186799;16344560;16729043;19056867;20532202;21139048;22939629;8589991;9642120 6451 O75368;V9HW48 ABBA01049187;ABBA01049188;ABBA01049189;ABBA01049190;ABBA01049191;ABBA01049192;ABBA01049193;ABBA01049194;ABBA01049195;ABBA01049196;AF042081;AK024892;AK129610;AK309350;AK309351;AK309352;AK310011;AK310155;AK315897;AL136718;AL357115;AMYH02039851;BC016709;BC103762;CH471104;CN272007;CR533478;DA487377;FJ224348;NM_003022 AAC27445;AAH16709;AAI03763;ACI46040;BAF98788;CAB66652;CAG38509;EAW98579;EAW98580;EAW98581;NP_003013;O75368 Hs.108029 1672864;1738997;1848608;2138080;2151653;2172815 1598;DXS7425;SHGC-34549;STS-AA034026;WI-12682;WI-20792 HEL-S-115;MGC117402;SH3BGR OTTHUMP00000023609;SH3 domain binding glutamic acid-rich protein like;SH3 domain-binding glutamic acid-rich-like protein;SH3-binding domain glutamic acid-rich protein like;epididymis secretory protein Li 115 APPROVED protein-coding ENSG00000131171 HGNC:10823 02178 300190 VALIDATED 1314135 SH3BGRL2 SH3 domain binding glutamate-rich protein like 2 ENCODES a protein that exhibits SH3 domain binding (inferred); FOUND IN extracellular vesicular exosome; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; benzene 6 6 6 q14.1 80756102 80828496 + 80341000 80413369 + 79631283 79703652 + 1580863;6480464 12095696;12477932;14574404;17110338;18029348;20522523;21565611;21890473;22773346;22939629;23398456;23898208;8619474;9110174 83699 Q9UJC5 ABBA01040413;ABBA01040414;ABBA01040415;ABBA01040416;AF131754;AF340151;AJ297972;AK074506;AK307145;AK311757;AL035700;AL451064;AMYH02013972;AMYH02013973;BC040489;BC052987;BC060799;BC070059;BC109043;BC109044;CH471051;NM_031469 AAH40489;AAH52987;AAH60799;AAH70059;AAI09044;AAI09045;AAK37526;BAG34700;CAC35771;EAW48703;NP_113657;Q9UJC5 Hs.302772 1707862;1727519;1759171;1774499;2133794;2174834;2175403 D6S1164E.1;G63017;RH46668;RH69690;SHGC-152608;SHGC-82168;STS-H57896 FLJ90025 OTTHUMP00000016775;SH3 domain binding glutamic acid-rich protein like 2;SH3 domain-binding glutamic acid-rich-like protein 2;fovea-associated SH3 domain-binding protein APPROVED protein-coding ENSG00000198478 HGNC:15567 15331 615678 PROVISIONAL 1316391 SH2D3C SH2 domain containing 3C This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 9 9 9 q34.11 101151465 101191912 - 130500596 130541048 - 127738317 127778769 - 6480464 10187783;10542222;10692442;12477932;12486027;12975309;14702039;15164053;15272013;15489334;16169070;16189514;16344560;16825666;17270363;17427198;17562024;20583170;22081014;23503679;23568457 10044 B4DG32;H0Y5X5;Q5JU32;Q8N5H7 ABBA01043842;ABBA01043843;AF124251;AI472242;AI799905;AJ420431;AK056068;AK096983;AK128287;AK291393;AK292041;AK292718;AK294386;AK311510;AL162426;AL162586;AMYH02021696;AMYH02021697;AY358089;AY358440;BC027962;BC032365;BI912337;BX647905;CH471090;CU454732;CU455802;DA054525;DA970566;DB161948;DC302682;NG_030563;NM_001142531;NM_001142532;NM_001142533;NM_001142534;NM_001252334;NM_005489;NM_170600;XM_005251637;XM_005251639 AAD28246;AAH27962;AAH32365;AAQ88456;AAQ89948;ADZ15473;BAF84082;BAF84730;BAF85407;BAG51614;BAG53404;BAG57643;CAI46101;EAW87695;NP_001136003;NP_001136004;NP_001136005;NP_001136006;NP_001239263;NP_005480;NP_733745;Q8N5H7;XP_005251694;XP_005251696 Hs.306412 1787184;2109831;2175178 SH2D3C_9032;SHGC-82506;WI-15876 CHAT;FLJ39664;NSP3;PRO34088;SHEP1 OTTHUMP00000022206;OTTHUMP00000022207;OTTHUMP00000022208;SH2 domain-containing 3C;SH2 domain-containing Eph receptor-binding protein 1;SH2 domain-containing protein 3C;novel SH2-containing protein 3 APPROVED protein-coding ENSG00000095370 HGNC:16884 05284 604722 REVIEWED 1317502 SH2D4A SH2 domain containing 4A ENCODES a protein that exhibits phosphatase binding; INVOLVED IN negative regulation of phosphatase activity; FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 8 8 8 p21.2 18134620 18217068 + 19171081 19253729 + 19313570 19396218 + 1580863;6480464 12476414;12477932;14702039;15302935;15489334;16189514;16344560;16964243;17081983;17353931;18029348;18641339;19060904;19389623;19471022;19712589;20360068;20379614;20936779;21906983;21963094;22863883;23503679;24315626;8125298 63898 H0YAT1;Q9H788 ABBA01021558;ABBA01021559;ABBA01021560;AC068880;AK024620;AK024799;AK225052;AK293301;AMYH02017557;AMYH02017558;AY190323;BC014525;BC067117;BC082982;CA418381;CH471080;DA952240;KF458692;NM_001174159;NM_001174160;NM_022071;XM_006716378 AAH14525;AAH67117;AAH82982;AAO41715;BAB14935;BAB15010;BAG56822;EAW63773;NP_001167630;NP_001167631;NP_071354;Q9H788;XP_006716441 Hs.303208 1656888;1669553;1681068;1682656;2144264;2144701;2147371;2164043;5127327 D8S2001;GDB:312946;RH35966;RH80043;SHGC-33765;SHGC-5873;WI-15862;WI-17471;WI-17568 FLJ20967;PPP1R38;SH2A OTTHUMP00000122496;OTTHUMP00000224604;OTTHUMP00000224605;SH2 domain-containing protein 4A;protein SH(2)A;protein phosphatase 1 regulatory subunit 38;protein phosphatase 1, regulatory subunit 38 protein-coding ENSG00000104611 HGNC:26102 08340 614968 VALIDATED 1602949 SH2D5 SH2 domain containing 5 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 1 1 1 p36.12 19371996 19384904 - 21046225 21059133 - 20719732 20732640 - 6480464;8554872 14702039;16273093;16710414;20379614;21706016 400745 E5RGJ3;E5RGV2;E5RJW5;J3KQT6;Q6ZV89 ABBA01059794;AK123236;AK123841;AK124869;AK296431;AL663074;AMYH02000433;CH471134;DC382086;NM_001103160;NM_001103161 BAC85974;BAH12349;EAW94947;EAW94949;NP_001096630;NP_001096631;Q6ZV89 Hs.591522 1764035;1766369;2135833;2150146 RH45524;SHGC-147696;SHGC-149712;SHGC-74318 FLJ41242;FLJ41847;FLJ42879 OTTHUMP00000002714;OTTHUMP00000002715;SH2 domain-containing protein 5 protein-coding ENSG00000189410 HGNC:28819 VALIDATED 1314801 SH3BP1 SH3-domain binding protein 1 ENCODES a protein that exhibits GTPase activator activity (inferred); SH3 domain binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); signal transduction (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH diazinon; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 22 22 22 q13.1 21837548 21853915 + 38030661 38052119 + 37639677 37656043 + 1580863;6480464 10508610;10591208;10764144;12029088;12477932;1379745;14702039;15461802;15489334;18685082;20697350;21044950;21906983;22891260;23223568;24163370;24841563;8438166;9548756 23616 F8WEQ3;Q6ZT62;Q9Y3L3 ABBA01055478;ABBA01055479;AK124370;AK126556;AK301163;AL157480;AMYH02038338;AW452539;AY364241;BC008282;CH471095;CR456576;NM_018957;Z83844 AAH08282;AAQ76800;ABM83584;ABM86824;BAC85842;BAC86592;BAH13419;CAB75671;CAG30462;CAK54606;CAK54905;EAW60171;EAW60172;EAW60173;EAW60174;NP_061830;Q9Y3L3 Hs.601143 5022578 D1S1423 3BP-1;ARHGAP43 OTTHUMP00000028981;OTTHUMP00000198187;SH3 domain binding protein 1;SH3 domain-binding protein 1 protein-coding ENSG00000100092 HGNC:10824 10227 VALIDATED 731485 SH3BP4 SH3-domain binding protein 4 This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008] 2 2 2 q37.1-q37.2 229577847 229681460 + 235860628 235964358 + 234951984 235055714 + 724635;6480464;8554872 10644451 12477932;15324660;15489334;15616480;15778465;15815621;16325581;16964243;17353931;18654987;19056867;20379614;20936779;21139048;21150319;21546767;21890473;21906983;22419666;22575674;23000965;7568168;9303539 23677 C9JED2;C9JF25;C9JRG1;C9JWW6;Q9P0V3 ABBA01013931;ABBA01013932;AC010148;AC114814;AF015043;AF147747;AK291209;AK304398;AMYH02006028;AMYH02006029;BC057396;BX647198;BX648877;CH471063;DQ232895;NG_033930;NM_014521 AAD01551;AAF33022;AAH57396;AAY14916;AAY24025;ABB18377;BAF83898;BAG65233;EAW71076;EAW71077;NP_055336;Q9P0V3 Hs.516777 1679037;1847012;1857187;2115198;2162177 A004W19;Cda19e02;RH93190;SHGC-33127;WI-14192 BOG25;TTP EH-binding protein 10;OTTHUMP00000164396;OTTHUMP00000203216;OTTHUMP00000203217;SH3 domain-binding protein 4;transferrin receptor trafficking protein;transferrin receptor-trafficking protein APPROVED protein-coding ENSG00000130147 HGNC:10826 09285 605611 REVIEWED 7174998 SH3BP5-AS1 SH3BP5 antisense RNA 1 3 3 3 p25.1 15233418 15244254 + 15295691 15306005 + 15254184 15264498 + 21956439;22488850;8889548 100505696 ABBA01025142;AC087590;AL133111;AMYH02006331;BM684368;CA447289;HG495510;NR_046084 Hs.745026 1683255;1689714;1698718;1730275;1735096;1858200;2121447 D3S1323E;D3S2776E;RH102919;RH66166;RH66709;SHGC-64041;SHGC-76742 AC087590.3 ncrna ENSG00000224660 HGNC:44501 VALIDATED 1606500 SH3BP5L SH3-binding domain protein 5-like INTERACTS WITH 17beta-estradiol; 2-methylcholine; all-trans-retinoic acid 1 1 1 q44 222266041 222281391 - 249104645 249120154 - 248810452 248825955 - 6480464 11214970;11230166;12477932;12975309;14702039;15324660;16189514;20936779;24816145 80851 Q7L8J4 AB051507;ABBA01002095;AK056345;AK056382;AK091164;AK125138;AK125837;AK298698;AK299713;AL136569;AL732583;AMYH02003156;AY358453;BC010871;BC011962;BC017254;CH471257;NM_030645 AAH10871;AAH11962;AAH17254;AAQ88818;BAB21811;BAB71158;BAB71171;BAG60856;BAG61613;CAB66504;EAW57534;EAW57535;EAW57536;NP_085148;Q7L8J4 Hs.298573 2123462;2127996 Cda1ha09;RH12550 FLJ33845;KIAA1720 OTTHUMP00000038181;SH3 domain-binding protein 5-like;SH3BP-5-like protein-coding ENSG00000175137 HGNC:29360 13887 PROVISIONAL 1605862 SH3D19 SH3 domain containing 19 This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 4 4 4 q31.3 149365961 149472384 - 152041433 152246797 - 151120281 151325645 - 6480464;8554872 11031247;11252894;12107413;12477932;12615363;14551139;14702039;15280379;16341674;16344560;16858696;17116749;17672918;18029348;19322201;19531213;20360068;20936779;8889548 152503 Q5HYK7;Q6PJX8 ABBA01070106;ABBA01070107;ABBA01070108;ABBA01070109;AC095055;AC104819;AK092528;AK128493;AK291025;AK294476;AL133047;AMYH02010302;AMYH02010303;AW263019;BC010110;BC032404;BC032468;BC045742;BC085613;BC108890;BC108891;BC108892;BC108893;BF109395;BM670337;BM831166;BX647422;CD675494;CF541231;CH471056;DB277036;DB278138;NG_029721;NM_001009555;NM_001128923;NM_001128924;NM_001243349;XM_005262766;XM_005262767;XM_006714097;XM_006714098;XM_006714099;XM_006714100;XM_006714101;XM_006714102;XM_006714103 AAH10110;AAH32468;AAH45742;AAH85613;AAI08891;AAI08892;AAI08893;AAI08894;BAF83714;BAG52566;BAG54685;BAH11782;CAB61374;CAI46052;EAX04986;EAX04987;NP_001009555;NP_001122395;NP_001122396;NP_001230278;Q5HYK7;XP_005262823;XP_005262824;XP_006714160;XP_006714161;XP_006714162;XP_006714163;XP_006714164;XP_006714165;XP_006714166 Hs.744983 1341513;1651021;1661451;1663472;1676732;1768369;1769046;1788456;5093976;7183421 A009Z47;D4S1548;G33033;RH98990;SHGC-31182;SHGC-33844;SHGC-57501;STS-N39590;fk48f12.x1 EBP;EVE1;Kryn;MGC105136;MGC118910;MGC118911;MGC118912;MGC118913;SH3P19 ADAM binding protein Eve-1;ADAM-binding protein Eve-1;EEN binding protein;EEN-binding protein;OTTHUMP00000204946;OTTHUMP00000205640;OTTHUMP00000220254;SH3 domain protein D19;SH3 domain-containing protein 19 APPROVED protein-coding ENSG00000109686 HGNC:30418 16364 608674 REVIEWED 1604508 SH3D20 SH3 domain containing 20 ENCODES a protein that exhibits Rac GTPase activator activity (ortholog); SH3 domain binding (ortholog); INVOLVED IN positive regulation of Cdc42 GTPase activity (ortholog); positive regulation of Rac GTPase activity (ortholog); receptor-mediated endocytosis (ortholog); FOUND IN intracellular (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 17 17 q21.31 40216087 40219651 - 43506718 43510282 - 6480464 12477932;20070850 201175 AC091132;AC217778;AF258593;AK290650;BC067345;CH471178;NM_174919 AAG23796;AAH67345;BAF83339;EAW51527;NP_777579;Q6ZUM4 Hs.205326 ARHGAP27;PP905;SH3P20 CIN85-associated multi-domain-containing Rho GTPase-activating protein 1;rho GTPase-activating protein 27;rho-type GTPase-activating protein 27 protein-coding HGNC:27311 18575 1605948 SH3D21 SH3 domain containing 21 FOUND IN extracellular vesicular exosome; INTERACTS WITH calcitriol; copper(2+) sulfate; testosterone 1 1 1 p34.3 35047088 35062073 + 36771889 36793544 + 36306288 36327943 + 6480464 10737800;12477932;14702039;15146197;15489334;16344560;17924679 79729 A4FU49;B5MDU9;D6RD64 ABBA01023302;ABBA01023303;AK026591;AK056459;AK297015;AL591845;AMYH02000782;AMYH02000783;AW194075;BC036763;BC048273;BC101676;BC101678;BE537168;BG003040;CH471059;CN285484;CN292095;DB034996;DC423360;NM_001162530;NM_024676;R61532;XM_005271204;XM_005271205;XM_006710901;XM_006710902;XR_426626 A4FU49;AAH36763;AAH48273;AAI01677;AAI01679;BAB15504;BAB71191;BAG59548;EAX07374;EAX07375;EAX07376;NP_001156002;NP_078952;XP_005271261;XP_005271262;XP_006710964;XP_006710965 Hs.524496 1665865;1666584;1856839;5493337 RH68220;SHGC-58104;SHGC-74603;UniSTS:485775 C1orf113;FLJ22938 OTTHUMP00000009601;OTTHUMP00000217735;SH3 domain-containing protein 21;SH3 domain-containing protein C1orf113 APPROVED protein-coding ENSG00000214193 HGNC:26236 08011 VALIDATED 1345626 SH3GL1P1 SH3-domain GRB2-like 1 pseudogene 1 17 17 17 q11.2 27286990 27289486 + 30367355 30369851 + 32040336 32042832 + 9169142 6458 ABBA01014941;AC090616;AMYH02033309;NR_033412;X99658;X99659 Hs.672460 CNSA-P1;SH3GLP1 APPROVED pseudo HGNC:10835 VALIDATED 1351797 SH3GL1 SH3-domain GRB2-like 1 This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 19 19 19 p13.3 4298613 4338694 - 4360364 4400565 - 4360367 4400568 - 6480464;6907045;7240710;8699517 10542231;10764144;10816441;11894096;12034747;12477932;14551139;14702039;15077184;15214844;15489334;15752756;15944398;16115810;16169070;16189514;16990610;17428861;17891136;18029348;18330356;19060904;20627007;21139048;21900206;21988832;22053931;22167186;22183150;22360420;22558309;22750032;22863883;22998870;23000965;23050879;23970061;24704450;24816145;9122235;9169142;9238017 6455 M0QYE0;M0R0I3;M0R2K6;Q6FGM0;Q99961 ABBA01056075;ABBA01056076;AC007292;AC011498;AF190465;AK097616;AK299166;AK315450;AMYH02035284;AMYH02035285;AY364240;BC000089;BC001094;BC001270;BC014387;BC098565;BU838380;CH471139;CK820395;CR542087;NG_028084;NM_001199943;NM_001199944;NM_003025;U65999;X99656 AAB86800;AAD24591;AAF04290;AAH00089;AAH01094;AAH01270;AAH14387;AAH98565;AAQ76799;ABM82184;ABM85370;BAG37838;BAG61213;CAA67970;CAG46884;EAW69227;EAW69228;EAW69229;NP_001186872;NP_001186873;NP_003016;Q99961 Hs.97616 1339612;1714563;1732147;1732149;1855639 D19S894;D7S836;D7S845;RH119795;STS-F10175 CNSA1;EEN;MGC111371;SH3D2B;SH3P8 EEN fusion partner of MLL;SH3 domain GRB2-like 1;SH3 domain protein 2B;SH3 domain-containing GRB2-like protein 1;SH3-containing Grb-2-like 1 protein;SH3-containing protein EEN;endophilin-2;endophilin-A2;extra 11-19 leukemia fusion;extra eleven-nineteen leukemia fusion;extra eleven-nineteen leukemia fusion gene protein;fusion partner of MLL APPROVED protein-coding ENSG00000141985 HGNC:10830 03462 601626;601768 REVIEWED 1349582 SH3GL1P2 SH3-domain GRB2-like 1 pseudogene 2 INTERACTS WITH benzo[a]pyrene diol epoxide I 17 17 17 q11.2 1 762 - 28951336 28953841 + 30624318 30626823 + 6480464 19291764;9169142 6459 ABBA01014999;AC005562;AMYH02033277;NR_033420;X99660;X99661 Hs.684860 CNSA-P2;SH3GLP2 APPROVED pseudo HGNC:10836 VALIDATED 1352293 SH3GL1P3 SH3-domain GRB2-like 1 pseudogene 3 17 17 17 q24.2 62700277 62702800 - 66129357 66131906 - 68133216 68135765 - 9169142 727736 ABBA01028966;AC005332;AMYH02033869;NG_011727;X99662;X99663 Hs.647405 1656315 RH47730 CNSA-P3;SH3GLP3 APPROVED pseudo HGNC:10837 INFERRED 733305 SH3BP5 SH3-domain binding protein 5 (BTK-associated) ENCODES a protein that exhibits protein kinase inhibitor activity; INVOLVED IN intracellular signal transduction; FOUND IN cytoplasm (inferred); mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 3 3 3 p24.3 15234616 15321139 - 15295860 15382901 - 15254353 15341394 - 1580863;6480464 10339589;10702676;12167088;12477932;14702039;15146197;15158451;15174051;15342556;15489334;15506969;16344560;16964243;17043677;21832049;21890473;21906983;21956439;21963094;22488850;23861391;24250222;9571151 9467 C9J140;C9JK30;C9JNW0;F8WDU8;O60239 AA843106;AB005047;ABBA01025141;ABBA01025142;AC087590;AK090524;AK313167;AL117422;AMYH02006331;AW673562;BC006169;BC010123;BC023195;BG475051;BP308415;BX114836;BX641159;CA429664;CH471055;CN402267;DA530463;NM_001018009;NM_004844;XM_006713420 AAH10123;ABM83801;ABW03526;BAA25922;BAG35985;BAG52178;CAE46071;CAI46220;EAW64225;EAW64226;EAW64227;EAW64228;NP_001018009;NP_004835;O60239;XP_006713483 Hs.257761 1338596;1650108;1689714;1698718;1730275;1735096;1763173;1858200;2112622 D3S1323E;D3S2776E;D3S3542;D3S3613;D3S4373;RH102919;RH66166;SHGC-146904;SHGC-76742 SAB;SH3BP-5 OTTHUMP00000208288;OTTHUMP00000208289;OTTHUMP00000208291;OTTHUMP00000208294;SH3 binding protein;SH3 domain-binding protein 5;SH3 domain-binding protein that preferentially associates with BTK protein-coding ENSG00000131370 HGNC:10827 12030 605612 VALIDATED 1343139 SH3GL2 SH3-domain GRB2-like 2 ENCODES a protein that exhibits identical protein binding; INVOLVED IN antigen processing and presentation of exogenous peptide antigen via MHC class II (inferred); axon guidance (inferred); central nervous system development (inferred); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; arsenous acid 9 9 9 p22 17507463 17725658 + 17578953 17797122 + 17578955 17797124 + 1580863;6480464;6907045;8554872 10531379;10535961;10542231;10567358;10764144;10816441;11031247;11157096;11252894;11292345;11384986;11877424;11894095;11894096;12034747;12127567;12177062;12218189;12456676;12477932;12672817;14684745;15164053;15456872;15834155;15919751;15962011;16115810;16169070;16374509;16606361;16713569;17081983;17174262;17437541;18029348;18239974;18602463;19010793;19165527;19343052;19679847;19722700;19734545;20379614;20445134;20512084;20944657;21044950;21163940;21829671;21832049;21900206;21988832;22451204;22939629;22968441;22972845;22998870;23029364;23251661;23675485;23814487;24076656;24816145;9122235;9169142;9238017;9315708;9341169;9651214 6456 B7Z7W3;Q7Z376;Q8IZ09;Q99962 AB206840;ABBA01065232;ABBA01065233;ABBA01065234;ABBA01065235;AF036268;AK057744;AK293546;AK293592;AK302273;AK302572;AK312400;AL133214;AL139115;AMYH02019237;AMYH02019238;AW149386;AW615196;BC032825;BT019682;BX538074;CH471071;CR542086;CR542102;DC309737;NM_003026;X99657;XM_005251549 AAC04764;AAH32825;AAV38488;BAE44459;BAG35315;BAH11530;BAH11542;BAH13663;BAH13749;CAA67971;CAD97999;CAG46883;CAG46899;EAW58661;EAW58662;EAW58663;NP_003017;Q99962;XP_005251606 Hs.743740;Hs.75149 1335847;1669878;1707524;1727397;1767932;1779820;1857490;5037293;7187579 D9S157;G63106;RH12259;RH47487;SH3GL2_8623;SHGC-153793;SHGC-84568;T15988 CNSA2;EEN-B1;FLJ20276;FLJ25015;SH3D2A;SH3P4 Endophilin A1 BAR domain;OTTHUMP00000021084;SH3 domain protein 2A;SH3 domain-containing GRB2-like protein 2;bA335L15.1 (SH3-domain GRB2-like 2);endophilin-1;endophilin-A1 protein-coding ENSG00000107295 HGNC:10831 05125 604465 VALIDATED 731323 SH3GL3 SH3-domain GRB2-like 3 ENCODES a protein that exhibits identical protein binding; INVOLVED IN central nervous system development (inferred); endocytosis (inferred); signal transduction (inferred); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH cadmium atom; calcitriol; formaldehyde 15 15 15 q24 60298989 60470347 - 84116091 84287495 + 83447228 83618743 + 1580863;6480464;6907045;8554872 10535961;10542231;10764144;10816441;11894096;12034747;12135478;12177062;12477732;12477932;14551139;15342556;15383276;15919751;16115810;16169070;16713569;18391950;18391951;18602463;19266077;19308258;19807924;20397748;20531441;20546612;21139048;21722156;21900206;22901147;22998870;24816145;9122235;9169142;9238017;9809064 6457 H3BRH8;Q8IVP1;Q99963 ABBA01029441;ABBA01029442;AC025483;AC087738;AC090083;AF036269;AF036270;AF036271;AK307442;AK309086;AL109775;AMYH02030933;AMYH02030934;AMYH02030935;AMYH02030936;AMYH02030937;AMYH02030938;AMYH02030939;BC035598;BC042864;BP228213;CH471188;NM_001301108;NM_001301109;NM_003027;NR_026799;NR_125370;X99664;XM_006720638;XM_006720639;XM_006720640;XR_429469 AAC04765;AAC04766;AAC04767;AAH42864;CAA67978;CAB52431;EAW62419;EAW62420;EAW62421;EAW62422;EAW62423;NP_001288037;NP_001288038;NP_003018;Q99963;XP_006720701;XP_006720702;XP_006720703 Hs.270055 1337181;1653329;1665935;1671818;1722337;1759117;1767647;2107571;2125019;2125912;2136339;2136393;2152228 2038;BCD1457;D15S205;D15S660;D15S819;D15S944;G10450;G60237;RH70954;RH79009;SH3GL3__6824;SHGC-2201;SHGC-30592 CNSA3;EEN-2B-L3;EEN-B2;HsT19371;SH3D2C;SH3P13 OTTHUMP00000190869;OTTHUMP00000211646;SH3 domain protein 2C;SH3 domain-containing GRB2-like protein 3;endophilin-3;endophilin-A3 protein-coding ENSG00000140600 HGNC:10832 04528 603362 VALIDATED 1314186 SH3GLB2 SH3-domain GRB2-like endophilin B2 PARTICIPATES IN endocytosis pathway; FOUND IN cytoplasm; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; cobalt dichloride; mercury atom 9 9 9 q34 102422625 102442892 - 131770313 131790604 - 129007792 129028353 - 1580863;6480464;6907045 11161816;11347906;11894095;11894096;12477932;14559993;15164053;15489334;15498874;16189514;16518874;16849557;18029348;18303116;20379614;20562859;21139048;21266059;21890473;21906983;21988832;22863883;22939629;23455924;23921385;24255178;24816145 56904 B7ZC38;B7ZC39;F8WFB9;G5E9J1;H7C1Z6;Q9NR46 AB058751;ABBA01043913;AF257319;AF258589;AF370426;AF370433;AL592211;AL832592;AMYH02021728;AMYH02021729;AX405925;BC005843;BC008029;BC014635;BM808895;CH471090;NM_001287045;NM_001287046;NM_020145;XM_005252098;XM_005252100;XM_005252101;XM_006717188;XM_006717189;XM_006717190;XM_006717191 AAF81226;AAG23792;AAH14635;AAQ15262;AAQ15269;ACE86915;ACE87602;BAB47477;CAD35032;EAW87854;EAW87855;EAW87856;EAW87857;EAW87858;EAW87859;EAW87860;NP_001273974;NP_001273975;NP_064530;Q9NR46;XP_005252155;XP_005252157;XP_005252158;XP_006717251;XP_006717252;XP_006717253;XP_006717254 Hs.460238 1802212;1802388;1803028;1803850;1804222;1804980;1805202;1807312;1816804;1822000;1826288;1830766;1835324;1836074;1837374;1838182;1841522;1842078;1842754;1845594;1931330;1931332;1931334;1931336;1931338;1931340;1931342;1931344;1931346;1931348;1931350;1931352;1931354;1931356;1931358;1931360;1931362;1931364;1931366;1931368;1931370;1931372;1931374;1931376;1931378;1931380;1931382;1931384;1931386;1931388;1931390;1931392;1931394;1931396;1931398;1931400;1931402;1931404;1931406;1931408;1931410;1931412;1931414;1931416;1931418;1931420;1931422;1931424;1931426;1931428;1931430;1931432;1931434;1931436;1931438;1931440;1931442;1931444;1931446;1931448;1931450;1931452;1931454;1931456;1931458;1931460;1931462;1931464;1931466;1931468;1931470;1931472;2109833;2208152;2208154;2208156;2208158;2208160;2208162;2208164;2208166;2208168;2208170;2208172;2208174;2208176;2208178 ECD01989;ECD02079;ECD02405;ECD02836;ECD03033;ECD03430;ECD03544;ECD04626;ECD09448;ECD12086;ECD14256;ECD16519;ECD18817;ECD19198;ECD19854;ECD20263;ECD21958;ECD22242;ECD22584;ECD24015;REN36494;REN36495;REN36496;REN36497;REN36498;REN36499;REN36500;REN36501;REN36502;REN36503;REN36504;REN36505;REN36506;REN36507;REN36508;REN36509;REN36510;REN36511;REN36512;REN36513;REN36514;REN36515;REN36516;REN36517;REN36518;REN36519;REN36520;REN36521;REN36522;REN36523;REN36524;REN36525;REN36526;REN36527;REN36528;REN36529;REN36530;REN36531;REN36532;REN36533;REN36534;REN36535;REN36536;REN36537;REN36538;REN36539;REN36540;REN36541;REN36542;REN36543;REN36544;REN36545;REN36546;REN36547;REN36548;REN36549;REN36550;REN36551;REN36552;REN36553;REN36554;REN36555;REN36556;REN36557;REN36558;REN36559;REN36560;REN36561;REN36562;REN36563;REN36564;REN36565;SH3GLB2_8070;stSG628128;stSG628129;stSG628130;stSG628131;stSG628132;stSG628133;stSG628134;stSG628135;stSG628136;stSG628137;stSG628138;stSG628139;stSG628140;stSG628142 KIAA1848;PP6569;PP9455;RRIG1 OTTHUMP00000022319;OTTHUMP00000022320;OTTHUMP00000043254;OTTHUMP00000206382;OTTHUMP00000206383;SH3 domain-containing GRB2-like protein B2;SH3-containing protein SH3GLB2;endophilin-B2;retinoid receptor-induced gene 1 protein-coding ENSG00000148341 HGNC:10834 15334 609288 VALIDATED 7241968 SH3PXD2A-AS1 SH3PXD2A antisense RNA 1 10 10 105506537 105515167 + 103746779 103755409 + 14702039;16344560 100505839 ABBA01063091;AK056784;AL133355;AMYH02023730;AMYH02023731;DA422325;NR_038940 Hs.655149 1718065;2147444 RH122650;STS-AA029714 ncrna HGNC:45242 VALIDATED 1317706 SH3BGRL3 SH3 domain binding glutamate-rich protein like 3 ENCODES a protein that exhibits Rho GTPase activator activity; semaphorin receptor binding; INVOLVED IN positive regulation of Rho GTPase activity; regulation of actin cytoskeleton organization; regulation of actin filament depolymerization; FOUND IN extracellular vesicular exosome; lamellipodium; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 1 1 1 p36.11 25002547 25004347 + 26606213 26608013 + 26279722 26281522 + 1580863;6480464 10554026;11137621;11211881;11344125;11444877;12477932;15489334;15907482;16729043;18029348;19056867;21139048;21832049;21906983;22939629;23000965;24816145 83442 Q5T123;Q9H299 ABBA01034902;AF247790;AF304163;AF466367;AJ297915;AK024884;AL451139;AMYH02000560;BC030135;CH471059;DB482618;FJ224343;NM_031286 AAG41412;AAH30135;AAL95695;AAO33388;ABM84303;ABM87697;ACI46035;CAC35770;EAX07831;EAX07832;NP_112576;Q9H299 Hs.109051 1681010;1682678;1684970;1697500 RH102252;RH79742;RH80614;RH91491 HEL-S-297;SH3BP-1;TIP-B1 OTTHUMP00000003458;SH3 domain binding glutamic acid-rich protein like 3;SH3 domain-binding glutamic acid-rich-like protein 3;SH3 domain-binding protein 1;SH3BGRL3-like protein;TNF inhibitory protein;epididymis secretory protein Li 297 APPROVED protein-coding HGNC:15568 15332 615679 VALIDATED 1349978 SH3PXD2B SH3 and PX domains 2B This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome. [provided by RefSeq, Sep 2010] 5 5 5 q35.1 167792626 167913367 - 171752185 171881527 - 172325181 172454523 - 737633;6480464;7240710;8554872;8699517 12477932 10718198;11181995;14702039;18959745;19144821;19228371;19531213;19755710;19807924;20137777;20379614;20609497;20943948;21139048;21706016;21886807;21890473;22829589;22939629;23000965;23383108 285590 A1X283;G3V144;H0YAU1 AB037716;AB430862;ABBA01044047;AC008671;AC011407;AC090064;AK000838;AK095834;AK128871;AMYH02012752;AMYH02012753;BC016513;BC038561;BC065230;BC110316;CA308160;CH471062;DQ109556;NG_027746;NM_001017995;XM_005265888 A1X283;AAI56243;AAI57117;AAZ99795;BAA91395;BAA92533;BAG81977;EAW61431;EAW61432;EAW61433;EAW61434;EAW61435;NP_001017995;XP_005265945 Hs.285666 1643796;1650804;1700174;1740457;2143132;5037552 D5S1852;D5S2257E;D5S2401;D8S2279;RH103701;RH65087 FAD49;FLJ20831;FTHS;HOFI;KIAA1295;TKS4;TSK4 OTTHUMP00000223471;OTTHUMP00000223472;SH3 and PX domain-containing protein 2B;adapter protein HOFI;adaptor protein HOFI;factor for adipocyte differentiation 49;tyrosine kinase substrate with four SH3 domains APPROVED protein-coding ENSG00000174705 HGNC:29242 18591 249420;613293 REVIEWED 1348094 SH3RF1 SH3 domain containing ring finger 1 This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008] 4 4 4 q32.3 167346760 167524236 - 170015407 170192249 - 169094256 169271098 - 1302763;1580863;6480464;8554872 9482736 10819331;12421765;12477932;14504284;14702039;15659549;16230351;16344560;16374509;17535800;19393081;19710010;20379614;20936779;20974134;21139048;21586138;21841072;21906983;22128169;23644744;24255178 57630 D6RAL3;D6RHX5;H0YA90;Q7Z6J0 AB040927;ABBA01070337;ABBA01070338;AC021151;AC096741;AC104783;AK021429;AK025255;AK026726;AMYH02010479;AMYH02010480;BC033203;BC041023;BC053671;CH471056;DA292937;NM_020870 AAH33203;AAH41023;AAH53671;BAA96018;BAB13822;EAX04792;EAX04793;EAX04794;NP_065921;Q7Z6J0 Hs.301804 1657646;1686170;1697826;1710416;1717989;1718669;1718731;1739325;1772635;2107573;2114725;2120758;2129788;2186653 D4S2770E;D4S2840;D4S3122;D4S516;G33624;RH102438;RH122611;RH123022;RH123053;RH92786;SH3MD2__6826;SHGC-24796;SHGC-67757;SHGC-82499 FLJ21602;KIAA1494;POSH;RNF142;SH3MD2 E3 ubiquitin-protein ligase SH3RF1;OTTHUMP00000219547;SH3 domain-containing RING finger protein 1;SH3 multiple domains 2;SH3 multiple domains protein 2;plenty of SH3 domains;plenty of SH3s;putative E3 ubiquitin-protein ligase SH3RF1;ring finger protein 142 APPROVED protein-coding ENSG00000154447 HGNC:17650 15335 REVIEWED 1321583 SH3BP2 SH3-domain binding protein 2 The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 4 p16.3 2706072 2754024 + 2794750 2842823 + 2793023 2841096 + 1599339;1580863;6480464;7240710;8554872;8699517 11381256 10364527;10364528;10409713;11390470;12200378;12477932;12501243;12709437;12900899;14577811;14757747;14759258;15117958;15345594;15489334;15751964;16169070;16177062;16273093;16713042;16802602;17147794;17156730;17306257;17321449;17544554;18479751;18596838;19017279;19531213;19576004;19833725;20002873;20237496;20301316;20379614;20439986;20872577;21680150;21794028;21988832;22153076;22153077;22795151;22820184;23083484;8125298;8438166;9299232;9734812;9846481 6452 D6R995;D6RAB4;D6RBL6;D6RC64;D6RER9;H0YAD9;P78314 AB000462;AB000463;ABBA01029485;ABBA01029486;ABBA01029487;ABBA01029488;ABBA01029489;AF000936;AK124073;AK126537;AK225497;AK299996;AK304752;AK307106;AK312286;AL121750;AMYH02008619;AMYH02008620;BC022996;CH471131;CQ834812;DC391267;NG_011609;NM_001122681;NM_001145855;NM_001145856;NM_003023;U56386;XM_005247997;XM_005247998;XM_005247999;XM_005248000;XM_006713911;XM_006713912;XM_006713913 AAB59973;AAB72034;AAH22996;BAA19119;BAA19120;BAC85767;BAC86582;BAG35213;BAG61816;BAH14252;CAH05621;EAW82506;EAW82507;EAW82508;EAW82509;EAW82510;EAW82511;EAW82512;EAW82513;NP_001116153;NP_001139327;NP_001139328;NP_003014;P78314;XP_005248054;XP_005248055;XP_005248056;XP_005248057;XP_006713974;XP_006713975;XP_006713976 Hs.167679 1659519;1663875;1729996;2107569;2133051;2136532;5016352;5016478;5020946;5022651;5037552 D11S2921;D4S182;D4S3283;D8S2279;GDB:434012;L17971;L30021;RH68130;SH3BP2__6823;SHGC-68227;STS-H16766 3BP-2;3BP2;CRBM;CRPM;FLJ42079;FLJ54978;RES4-23 Abl-SH3 binding protein 2;OTTHUMP00000219014;OTTHUMP00000219024;OTTHUMP00000219026;OTTHUMP00000219027;SH3 domain-binding protein 2;TNFAIP3 interacting protein 2 APPROVED protein-coding ENSG00000087266 HGNC:10825 03657 118400;602104 REVIEWED 1318168 SH3RF2 SH3 domain containing ring finger 2 ENCODES a protein that exhibits phosphatase binding; protein phosphatase 1 binding; INVOLVED IN negative regulation of phosphatase activity; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene; cisplatin 5 5 5 q32 141396292 141522973 + 145316126 145458680 + 145936563 146081773 + 737633;1580863;6480464;8554872 12477932 14702039;15342556;15489334;19389623;19690564;19807924;19945436;20379614;21145461;21382349;21832049;22128169;22321011;22939624;23080069;24130170 153769 Q08AM8;Q8TEC5 ABBA01026345;AC005216;AC005351;AC011359;AC091887;AK058046;AK074234;AK292576;AK302024;AL833297;AMYH02012402;BC031650;BC073914;BC125106;BC125107;BP352041;CH471062;NM_152550;XM_005268380;XM_006714757;XM_006714758 AAH31650;AAH73914;AAI25107;AAI25108;BAB71639;BAB85025;BAF85265;BAG63422;EAW61852;EAW61853;EAW61854;NP_689763;Q8TEC5;XP_005268437;XP_006714820;XP_006714821 Hs.443728 1340584;1676552;1740469;1760277;1780574;2181464;5015619;5022578;5022588;5022651;5022733;5024510;5037552 D11S2921;D11S3114;D13S1552;D1S1423;D5S1597E;D5S2099;D5S2266E;D5S608;D8S2279;RH99232;SH3RF2;SHGC-132799;bac51213T FLJ23654;HEPP1;MGC149788;MGC149789;MGC90410;PPP1R39;RNF158 OTTHUMP00000160093;OTTHUMP00000223636;POSH-eliminating RING protein;POSHER;RING finger protein 158;SH3 domain-containing RING finger protein 2;heart protein phosphatase 1-binding protein;protein phosphatase 1 regulatory subunit 39;protein phosphatase 1, regulatory subunit 39;putative E3 ubiquitin-protein ligase SH3RF2 APPROVED protein-coding ENSG00000156463 HGNC:26299 10229 613377 VALIDATED 6767497 SH3RF3-AS1 SH3RF3 antisense RNA 1 2 2 2 q12.3 104053548 104056346 - 109743783 109746575 - 109127327 109130119 - 8619474;9110174 100287216 ABBA01000771;AC133109;AF035291;AK297376;AMYH02004517;NR_029193 BAH12566 Hs.171244 1699662 RH103435 APPROVED ncrna HGNC:44168 VALIDATED 1312539 SH3GLB1 SH3-domain GRB2-like endophilin B1 This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 1 p22 85413638 85457246 + 87170253 87213867 + 86704570 86748184 + 6480464;6907045 10531379;10810093;11161816;11259440;11384986;11431473;11894096;12456676;12477932;14702039;14704270;15452144;15489334;15978591;16227588;16344560;16374509;16696976;16710414;16763557;16916719;18029348;18474606;18752120;18824435;18833585;19074440;19125733;19132989;19341794;19471022;19805544;20159967;20562859;20643123;21068542;21139048;21283040;21832049;21906983;21963094;21988832;22505724;22785202;22797925;22863883;23429496;24816145;8125298;9455484 51100 Q9Y371 AB007960;ABBA01045611;AF151819;AF257318;AF263293;AF350371;AI936794;AK001954;AK225864;AK303710;AL049597;AMYH02001411;AMYH02001412;BC007455;CH471097;DB038227;DB451777;KF454982;NG_030018;NM_001206651;NM_001206652;NM_001206653;NM_016009;XM_006710672;XM_006710673 AAD34056;AAF73017;AAF81225;AAH07455;AAK27365;ABM83955;ABM87272;BAA91999;BAD88797;BAG64694;EAW73181;EAW73182;NP_001193580;NP_001193581;NP_001193582;NP_057093;Q9Y371;XP_006710735;XP_006710736 Hs.136309 1659873;1665125;2146560;5015961 D15S1477;D1S3283;SHGC-33734;SHGC-75080 Bif-1;CGI-61;KIAA0491;PPP1R70;dJ612B15.2 Bax-interacting factor 1;OTTHUMP00000011912;OTTHUMP00000011913;SH3 domain-containing GRB2-like protein B1;SH3-containing protein SH3GLB1;endophilin B1;endophilin-B1;protein phosphatase 1, regulatory subunit 70 APPROVED protein-coding ENSG00000097033 HGNC:10833 15333 609287 REVIEWED 1344960 SH3RF3 SH3 domain containing ring finger 3 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN apoptotic process (inferred); regulation of JNK cascade (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 2 2 2 q13 104055768 104430967 + 109745997 110107395 + 109129482 109504630 + 6480464;8554872 14702039;16374509;20379614;20696164;24255178 344558 C9JNJ4;H7BZP9;Q8TEJ3 AA916456;ABBA01000771;ABBA01000772;ABBA01000773;ABBA01000774;ABBA01000775;ABBA01000776;ABBA01000777;ABBA01000778;ABBA01000779;ABBA01009001;AC010906;AC109344;AC133109;AC139850;AC140485;AC153804;AC233025;AEKP01200292;AK074131;AK093821;AL831825;AMYH02004517;AMYH02004518;AMYH02004519;AMYH02004520;DQ307286;DV080665;HY224642;KF456694;NM_001099289;XM_006712493;XM_006712494;XM_006712495 ABC25188;BAB84957;CAD38539;NP_001092759;Q8TEJ3;XP_006712556;XP_006712557;XP_006712558 Hs.171244;Hs.535157;Hs.712087 1334519;1342401;1663674;1699662;1714843;1730475;1759705;1781612;2129119;2173823;2183880 D2S1891;D2S1893;D2S199;HSC16A112;IB846;RH103435;RH11810;RH120416;RH65580;SHGC-152525;SHGC-153258 FLJ00204;POSH2;SH3MD4 OTTHUMP00000203907;OTTHUMP00000203921;SH3 domain-containing RING finger protein 3;SH3 multiple domains 4;SH3 multiple domains protein 4;plenty of SH3s 2;plenty of SH3s-2 protein-coding ENSG00000172985 HGNC:24699 VALIDATED 1322510 SH3PXD2A SH3 and PX domains 2A ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INVOLVED IN superoxide metabolic process; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN podosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 10 10 10 q24.33 99093721 99355050 - 105353784 105615195 - 103594027 103855437 - 6480464;8554872 12615925;12672817;14702039;15146197;15164054;15710328;15710903;16374509;17440933;18296648;18417249;19322201;19464300;19540230;19755710;19807924;19837132;20309963;20379614;20562859;20609497;21139048;21706016;21890473;21906983;21963094;22249020;22584907;22745667;23000965;23544093;23873940;24174371;24206842;24255178;9455477;9687503 9644 B3KPL1;B7Z9C6;H0Y507;Q5TCZ1 AB007878;ABBA01063090;ABBA01063091;ABBA01063092;ABBA01063093;AK025783;AK056469;AK096575;AK123570;AK294454;AK294736;AK295314;AK295660;AK302015;AK304828;AK315983;AL121929;AL133355;AL833070;AMYH02023725;AMYH02023726;AMYH02023727;AMYH02023728;AMYH02023729;AMYH02023730;AMYH02023731;BX647371;CH471066;CN307901;KF510327;NM_014631;XM_005270294;XM_005270295;XM_005270297;XM_005270298;XM_006718079;XM_006718080 AAI46310;AAI56573;BAA24848;BAG51723;BAH11772;BAH11864;BAH12031;BAH12146;BAH13608;BAH14262;BAH14354;CAD89969;EAW49622;EAW49623;EAW49624;EAW49625;NP_055446;Q5TCZ1;XP_005270351;XP_005270352;XP_005270354;XP_005270355;XP_006718142;XP_006718143 Hs.678727 1341095;1341234;1653178;1653180;1659382;1674226;1688098;1690846;1697566;1704596;1718065;1730974;1730976;1731000;1736146;1760021;1851229;2129885;2132664;2147444;2157264;2168536;5022651 A005K38;BCD1265;D10S1268;D10S1400E;D10S1668;D10S346;D10S361;D10S383;D11S2921;D3S3985;G20290;RH102293;RH122650;RH48899;RH92781;RH93063;SGC33314;SHGC-106571;SHGC-57337;SHGC-83111;STS-AA029714;STS-N31939;UniSTS:73411 FISH;SH3MD1;TKS5;TSK5 OTTHUMP00000020419;OTTHUMP00000020421;SH3 and PX domain-containing protein 2A;SH3 multiple domains 1;SH3 multiple domains protein 1;adapter protein TKS5;adaptor protein TKS5;five SH3 domain-containing protein;five SH3 domains;tyrosine kinase substrate with five SH3 domains protein-coding ENSG00000107957 HGNC:23664 10228 VALIDATED 1315058 SH3YL1 SH3 and SYLF domain containing 1 ENCODES a protein that exhibits phosphatase binding; phosphatidylinositol binding; INVOLVED IN phosphatidylinositol biosynthetic process (inferred); regulation of ruffle assembly (inferred); FOUND IN ruffle membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; calcitriol 2 2 2 p25.3 281261 326708 - 218136 264820 - 218136 264866 - 737633;6480464 12477932 10771491;12615363;14702039;16169070;16189514;16344560;17207965;21624956;22745667;23824909 26751 C9J4Z8;C9JJI3;F5GYQ6;H7C1B8;H7C499;Q96HL8;S4R3I7 ABBA01035630;ABBA01035631;AC079779;AK026507;AK026586;AK055801;AK096440;AK123829;AK292312;AL050373;AMYH02003160;AMYH02003161;BC008374;BC008375;BC013286;BC030778;BC034974;BC043234;BC043403;CK821806;CR457361;CX758922;DA271598;DB076978;DB244375;HY040340;NM_001159597;NM_001282682;NM_001282687;NM_015677;NR_104223;NR_104224;NR_104225;NR_104226;NR_104227 AAH08374;AAH08375;AAH30778;AAH34974;AAY14957;ACE86416;ACE86417;ACE87092;ACE87093;ADQ32282;BAB15493;BAF85001;CAB43679;CAG33642;NP_001153069;NP_001269611;NP_001269616;NP_056492;Q96HL8 Hs.515951;Hs.731436 1653529;1699146;2141847;5020948;5022450;5109281 D10S275;D1S1425;G35510;RH103149;STS-AA024860;WI-21834 DKFZp586F1318;FLJ39121;RAY OTTHUMP00000199899;OTTHUMP00000199900;OTTHUMP00000199901;OTTHUMP00000199903;OTTHUMP00000199904;OTTHUMP00000199906;OTTHUMP00000199907;SH3 domain containing, Ysc84-like 1;SH3 domain-containing YSC84-like protein 1 APPROVED protein-coding ENSG00000035115 HGNC:29546 15336 VALIDATED 734100 SHANK1 SH3 and multiple ankyrin repeat domains 1 ENCODES a protein that exhibits ankyrin repeat binding (ortholog); GKAP/Homer scaffold activity (ortholog); identical protein binding (ortholog); INVOLVED IN adult behavior; determination of affect; social behavior; PARTICIPATES IN glutamate signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; dendritic spine (ortholog); excitatory synapse (ortholog); INTERACTS WITH aflatoxin B1; diazinon; paracetamol 19 19 19 q13.3 48216374 48271323 - 51163052 51220195 - 50659795 50719783 - 1580863;6480464;6907045;8554872 10433268;10433269;10551867;10806096;10958799;10964907;11087996;11178875;11509555;11583995;12504591;12626503;12753155;12954649;15673434;16192279;16217014;19416473;20467438;20936779;21901269;22503632;23897824 50944 H9KV90;M0QYB5;Q9Y566 ABBA01068305;ABBA01068306;ABBA01068307;ABBA01068308;AC008743;AC010325;AF163302;AF226728;AMYH02036360;AMYH02036361;CH471135;EU872208;NM_016148;XM_005258963;XM_006723233;XM_006723234 AAD45121;AAF35887;ACG56368;EAW71893;EAW71894;NP_057232;Q9Y566;XP_005259020;XP_006723296;XP_006723297 Hs.274255;Hs.715488 SPANK-1;SSTRIP OTTHUMP00000174437;OTTHUMP00000174438;SH3 and multiple ankyrin repeat domains protein 1;SSTR-interacting protein;somatostatin receptor-interacting protein;synamon protein-coding ENSG00000161681 HGNC:15474 05413 604999 VALIDATED 6481154 SHANK2-AS1 SHANK2 antisense RNA 1 11 11 70477199 70481595 + 70631094 70635490 + 14702039 100874198 ABBA01010312;AK097446;AMYH02025053;AP001271;HG503948;NR_046567 Hs.656610 1771695 A008P15 AP001271.2 APPROVED ncrna ENSG00000226627 HGNC:40014 VALIDATED 6481151 SHANK2-AS2 SHANK2 antisense RNA 2 100874199 AP000590;BE046985 Hs.672096 APPROVED ncrna HGNC:40015 7204625 SHANK2-AS3 SHANK2 antisense RNA 3 11 11 11 q13.4 67970780 67973105 + 70708895 70711220 + 70862790 70865115 + 12477932;15489334 220070 Q9BTD1 ABBA01010315;AMYH02025057;AP003783;BC004224;CH471076;HG503950;NR_073536 AAH04224;EAW74783;Q9BTD1 Hs.326766 C11orf76 ncrna ENSG00000171671 HGNC:25098 14132 VALIDATED 736232 SHANK2 SH3 and multiple ankyrin repeat domains 2 This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 11 11 11 q13.2 67575145 68227408 - 70313961 70935808 - 70467856 71252537 - 6480464;6907045;7240710;8554872 10373412;10433268;10433269;10470851;10506216;10527873;10806096;10844022;10958799;10964907;11087996;11583995;12477932;12504591;12626503;14702039;15489334;16293618;16554811;17081983;17474147;20080968;20301615;20473310;20531469;21994763;22346768;22699619;23149075;23251661;23432519;23468870;23602568;23897824;24124131;24751538;8619474;9110174;9742101 22941 A6NHU9;B7ZKU9;C0SPH0;C9JFP8;C9JW40;E7EUA2;E7EX50;H0Y7S5;H7BZP8;H7BZV1;H7C027;H7C1X5;Q9UPX8 AA464273;AB028945;AB208025;AB208026;AB208027;ABBA01010311;ABBA01010312;ABBA01010313;ABBA01010314;ABBA01010315;ABBA01010316;ABBA01017557;ABBA01017558;ABBA01017559;ABBA01017560;ABBA01017561;ABBA01017562;ABBA01017563;AC234421;AF131790;AF141901;AK095088;AK096045;AK128563;AMYH02025051;AMYH02025052;AMYH02025053;AMYH02025054;AMYH02025055;AMYH02025056;AMYH02025057;AMYH02025058;AMYH02025059;AMYH02025060;AMYH02025061;AMYH02025062;AMYH02025063;AMYH02025064;AP000590;AP001271;AP001648;AP003783;AP003967;AP004370;AP005401;BC041371;BC093885;BC112097;BC113876;BC114484;BC143389;BX648718;CH471076;CV313099;DQ152234;KF455409;NM_012309;NM_133266;NR_110766;U73633;XM_005277930;XM_005277932;XM_006718477;XM_006718478 AAF02496;AAH93885;AAI12098;AAI14485;AAI43390;AAI68372;AAZ77790;BAA82974;BAH37016;BAH37017;BAH37018;EAW74771;EAW74772;EAW74773;EAW74774;EAW74775;EAW74776;EAW74777;EAW74778;EAW74779;NP_036441;NP_573573;Q9UPX8;XP_005277987;XP_005277989;XP_006718540;XP_006718541 Hs.268726 1338255;1339850;1341088;1645867;1656246;1671094;1675539;1684678;1686288;1688945;1695950;1717055;1722039;1738017;1752283;1754955;1762225;1769815;1771098;1771695;1774163;1775290;1782392;2115464;2131062;2142278;2151535;2181605;5494080;7185728 A008P15;D11S1126;D11S1975;D11S2288E;D11S3627;D11S4057;D11S4139;D11S579;D11S971;D1S2718;G17560;G48072;G59906;RH124032;RH36039;RH36629;RH48629;RH66696;RH76480;RH91142;SHGC-106206;SHGC-141871;SHGC-146094;SHGC-154075;SHGC-78908;STS-T84114;UniSTS:24206;WI-14325;WIAF-2195 AUTS17;CORTBP1;CTTNBP1;ProSAP1;SHANK;SPANK-3 GKAP/SAPAP interacting protein;OTTHUMP00000165931;OTTHUMP00000165995;OTTHUMP00000165996;OTTHUMP00000166023;OTTHUMP00000166026;OTTHUMP00000202300;SH3 and multiple ankyrin repeat domains protein 2;cortactin SH3 domain-binding protein;cortactin-binding protein 1;proline rich synapse associated protein 1;proline-rich synapse associated protein 1;proline-rich synapse-associated protein 1 APPROVED protein-coding ENSG00000162105 HGNC:14295 04479 603290;613436 REVIEWED 1313741 SH3TC1 SH3 domain and tetratricopeptide repeats 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH calcitriol; copper(2+) sulfate; cyclosporin A 4 4 4 p16.1 8092937 8134682 + 8201060 8242830 + 8199333 8241103 + 1580863;6480464;8554872 12477932;14702039;19240061;20379614;8125298 54436 B3KWX8;D6RC98;D6REB6;D6RI07;E7EQR1;H0Y9A4;H0YA34;H0YAJ7;Q6NVH2;Q8TE82;U3KQ04 ABBA01008688;ABBA01008689;AC104650;AK000363;AK057561;AK074093;AK074402;AK093562;AK126165;AK128258;AK222865;AK310552;AMYH02008695;AMYH02008696;BC030283;BC068094;BC131785;CH471131;KF459594;NM_018986;XM_005247974;XM_006713888;XM_006713889;XM_006713890;XM_006713891;XR_241652;XR_427478 AAH68094;AAI31786;AAI68362;AAY40932;BAA91112;BAB84919;BAB85071;BAD96585;BAG54290;EAW82347;EAW82348;EAW82349;EAW82350;EAW82351;EAW82352;EAW82353;NP_061859;Q8TE82;XP_005248031;XP_006713951;XP_006713952;XP_006713953;XP_006713954 Hs.479116 1336961;1673562;1681084;1687245;2109835;2142594 D4S1219;D4S2923;RH93793;SH3TC1_9781;SHGC-50906;SHGC-67314 FLJ20356;FLJ32999;FLJ36243;FLJ46394 OTTHUMP00000115586;SH3 domain and tetratricopeptide repeat-containing protein 1;SH3 domain and tetratricopeptide repeats-containing protein 1 protein-coding ENSG00000125089 HGNC:26009 11556 VALIDATED 1350494 SHB Src homology 2 domain containing adaptor protein B ENCODES a protein that exhibits SH3/SH2 adaptor activity (inferred); INVOLVED IN angiogenesis (inferred); apoptotic process (inferred); cell differentiation (inferred); PARTICIPATES IN platelet-derived growth factor signaling pathway; vascular endothelial growth factor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; afimoxifene; atrazine 9 9 9 p13.2 37849067 38002380 - 37915895 38069210 - 37915898 38069213 - 1580863;2298729;6480464;6484113;8554872 17658244 10477520;10488157;10828022;10837138;10964504;11786545;12084069;12181353;12200137;12464388;12477932;12520086;14702039;15026417;15164053;15489334;15919073;15951569;16569669;16630561;16971391;17112510;20171287;23934736;7537362;7713524;8302579;8806685;9484780;9751119 6461 Q15464 ABBA01050384;ABBA01050385;AK055947;AK096227;AL138752;AL161448;AL583849;AMYH02019505;BC029953;BC136581;BC136582;CH471071;NM_003028;X75342 AAI36582;AAI36583;CAA53091;EAW58254;EAW58255;NP_003019;Q15464 Hs.521482 1745127;1757971;1768640;1787020;2108469;2129390;2137776;2144444;2160187 D9S952;GDB:594944;RH12398;SHB_8624;SHGC-12007;SHGC-146997;SHGC-149857;STS-X75342;WI-19223 RP11-3J10.8;bA3J10.2 OTTHUMP00000021397;SH2 domain-containing adapter protein B;SHB (Src homology 2 domain containing) adaptor protein B;SHB adaptor protein (a Src homology 2 protein) protein-coding HGNC:10838 02635 600314 VALIDATED 1603608 SHARPIN SHANK-associated RH domain interactor ENCODES a protein that exhibits polyubiquitin binding; INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; protein linear polyubiquitination; regulation of CD40 signaling pathway; PARTICIPATES IN integrin mediated signaling pathway; nuclear factor kappa B signaling pathway; tumor necrosis factor mediated signaling pathway; FOUND IN cytosol; LUBAC complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); ammonium chloride (ortholog) 8 8 8 q24.3 141491053 141496661 - 145153536 145159140 - 144098633 144104237 - 6480464;7364738;7800730;7349373 23085193;23719537;23860236 11178875;11230166;12477932;12753155;15146197;15489334;18950845;20179993;20458142;20956555;21139048;21455180;21709223;21890473;21906983;21947080;21963094;21987572;21988832;22053931;22253853;22549881;22605335;22607974;22750873;23000965;23032186;23032187;23443559;23746843;23818254;23897824;23986494;24210817;24726323;24726327;25015289 81858 H0YCU2;Q6PJD5;Q9H0F6 AB052764;AB052765;ABBA01005225;AC104592;AK075518;AL136816;AMYH02018956;BC002688;BC017230;BC025244;BC034028;BE877614;BI911222;CH471162;CN260986;CS051355;FJ655995;NM_030974;NR_038270 AAH02688;AAH17230;AAH25244;AAH34028;ACN38058;BAC11666;BAC53797;BAC53798;CAB66750;CAI72172;EAW82150;EAW82151;EAW82152;EAW82153;EAW82154;EAW82155;EAW82156;NP_112236;Q9H0F6 Hs.529755 2124587 RH65611 DKFZp434N1923;SIPL1;hSIPL1 OTTHUMP00000229042;OTTHUMP00000229043;shank-associated RH domain-interacting protein;shank-interacting protein-like 1 protein-coding ENSG00000179526 HGNC:25321 15463 611885 VALIDATED 1348846 SH3TC2 SH3 domain and tetratricopeptide repeats 2 This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008] 5 5 5 q32 144443778 144524792 - 148361713 148442737 - 148982150 149063174 - 1580863;6480464;7240710;8554872;8699517 11716477;11752282;11853319;12477932;14574644;14702039;15489334;15498874;16326826;16344560;17470135;18511281;19240061;19272779;19744956;20028792;20301514;20301532;20301641;20379614;21291453;22950825;22978647;8894708 79628 D6RA65;D6RFX2;E9PDF1;H0Y8Q9;H0Y9E7;Q8TF17 AB070621;AB075865;ABBA01026312;AC011364;AC116312;AF086088;AK023641;AK023667;AK092408;AK124854;AK127050;AK127241;AK127248;AK127442;AK128209;AK300420;AK309932;AL832651;AMYH02012440;AMYH02012441;AY341075;BC113879;BC114486;DA856608;NG_007947;NM_024577 AAI13880;AAI14487;AAR03497;BAB14631;BAB85571;BAC86899;BAG54107;BAG54431;BAG54462;BAG54650;BAH13280;NP_078853;Q8TF17 Hs.483784 1335530;1649291;1665239;1689544;1705886;1778199;2115593;2117381;2173552;5022578;5022651;5037552 AFM198zh6;D11S2921;D1S1423;D5S2647;D5S2654;D5S413;D8S2279;RH70055;SHGC-81207;STS-N34331;STS-R77678;WI-22716 CMT4C;FLJ13605;KIAA1985;MNMN OTTHUMP00000160383;OTTHUMP00000223904;OTTHUMP00000223905;OTTHUMP00000223921;SH3 domain and tetratricopeptide repeat-containing protein 2;SH3 domain and tetratricopeptide repeats-containing protein 2 APPROVED protein-coding HGNC:29427 10496 601596;608206;613353 REVIEWED 1353619 SHC1P1 SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 1 INTERACTS WITH isotretinoin X X X q11.1 63998885 64002376 + 63652063 63655554 + 64432183 64435674 + 6480464 9192859 6465 ABBA01066896;AL034408;AMYH02039601;NG_001195;Y09846 1729343 G64102 pseudo HGNC:10841 INFERRED 1345976 SHC1P2 SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 2 17 17 17 q21.31 39013052 39016640 - 42304329 42307918 - 44226961 44230550 - 7635484 6466 ABBA01028381;AC003102;AMYH02033473;NG_004765;U31058 SHCL1 APPROVED pseudo HGNC:10842 600739 VALIDATED 1350366 SHC2 SHC (Src homology 2 domain containing) transforming protein 2 ENCODES a protein that exhibits receptor tyrosine kinase binding (inferred); INVOLVED IN activation of MAPK activity (inferred); insulin receptor signaling pathway (inferred); intracellular signal transduction (inferred); PARTICIPATES IN chronic myeloid leukemia pathway; epidermal growth factor/neuregulin signaling pathway; glioma pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol (inferred); INTERACTS WITH calcitriol; lead(0); lead(2+) 19 19 19 p13.3 788 5116 - 416583 460996 - 416583 460996 - 1299208;1580863;6480464;6907045;8554872 9507002 10749680;11520933;12006576;12446789;12477932;15057824;16273093;16368877;16436505;18029348;21658278;7527937;7739560;8760305;9325171;9790910 25759 K7EKS8;K7ENB2;P98077 AB001451;ABBA01002561;ABBA01002562;ABBA01002563;AC006124;AC008988;AC138433;AL134433;AL360254;AMYH02035107;AMYH02035108;AMYH02035109;BC030527;BC034544;BC048290;BQ025513;BU754380;BY796046;CF457169;CK826553;NM_012435;XM_005259529 AAI56110;AAI56899;BAA25798;CAB96175;NP_036567;P98077;XP_005259586 Hs.30965 1657714;2180228 RH41850;WI-14847 SCK;SHCB;SLI SH2 domain protein C2;SHC-transforming protein 2;SHC-transforming protein B;neuronal Shc adaptor homolog;src homology 2 domain-containing-transforming protein C2 protein-coding ENSG00000129946 HGNC:29869 605217 VALIDATED 732890 SH3KBP1 SH3-domain kinase binding protein 1 This gene encodes an adapter protein that contains three N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] X X X p22.1-p21.3 23675636 24008177 - 19552083 19905744 - 19533965 19887626 - 1580863;6480464;6907045;8554872 10679202;10858458;10921882;11071869;11152963;11474197;11894095;11894096;12029088;12135478;12177062;12218189;12477932;12618476;12690097;12734385;12771190;12829691;12874286;12946264;14596919;15090612;15107835;15144186;15147912;15342556;15456872;15476827;15489334;15557335;15707590;15719014;15761153;15824310;15962011;16083285;16177060;16223483;16228008;16256071;16407834;16537602;16678097;16733801;16751601;16849543;16895919;17020880;17072306;17081983;17174262;17244534;17255943;17306257;17428861;17474147;17606992;17675467;17823309;18029348;18048363;18076569;18266907;18362180;18641129;18680311;19111555;19166927;19268472;19322201;19417776;19531213;20130058;20216986;20221403;20360068;20457601;20467438;20473970;20654576;20711168;20927317;21139048;21191027;21275903;21372129;21446695;21635887;21725061;21822214;21830225;21900206;22203040;22262777;22558309;22623531;22745667;22791810;22815893;22833562;22939629;23279575;24039852;24167568;24816145;25036637;7566098;8889549;9507006;9857189 30011 B7Z6E8;Q5JPT1;Q5JPT2;Q5JPT3;Q5JPT6;Q5VSN0;Q96B97 ABBA01071776;ABBA01071777;ABBA01071778;ABBA01071779;ABBA01071780;ABBA01071781;ABBA01071782;ABBA01071783;ABBA01071784;ABBA01071785;ABBA01071786;ABBA01071787;ABBA01071788;ABBA01071789;ABBA01071790;ABBA01071791;ABBA01071792;ABBA01071793;ABBA01071794;ABBA01071795;ABBA01071796;ABBA01071797;ABBA01071798;ABBA01071799;ABBA01071800;ABBA01071801;ABBA01071802;ABBA01071803;ABBA01071804;ABBA01071805;ABBA01071806;ABBA01071807;ABBA01071808;ABBA01071809;ABBA01071810;ABBA01071811;ABBA01071812;ABBA01071813;ABBA01071814;AF230904;AF329267;AF329268;AF542051;AK293234;AK293237;AK300189;AK307276;AK313308;AL732325;AL732327;AL732409;AL732423;AL772197;AMYH02038969;AMYH02038970;AMYH02038971;AMYH02038972;AMYH02038973;AMYH02038974;AMYH02038975;AMYH02038976;AMYH02038977;AMYH02038978;AMYH02038979;AY423734;AY542305;BC015806;BC041055;BC050663;BP224209;CH471074;CS300518;DC359739;DC409010;DR000949;NG_021367;NM_001024666;NM_001184960;NM_031892;XM_005274494;XM_005274495;XM_005274496 AAF37854;AAH15806;AAH50663;AAK95587;AAN77231;AAO13348;AAS00497;AAT08174;ABM83313;ABM86526;BAG36113;BAH11470;BAH11471;BAH13234;CAK32182;EAW98964;EAW98965;EAW98966;EAW98967;NP_001019837;NP_001171889;NP_114098;Q96B97;XP_005274551;XP_005274552;XP_005274553 Hs.726365 1682876;1702416;1702694;1703106;1703158;1726913;1773119;1787254;1791189;1791201;1791213;1791231;1791233;2125397;2141999;2145700;2157244;2175753;7185916 187J3_T7;24O6_T7;442A14_SP6;692N21_SP6;692N21_T7;DXS3424;DXS443;DXS8004;DXS8005;DXS8176;DXS9770;G31065;G62700;L77818;RH18201;RH45953;RH94355;SHGC-143702 CD2BP3;CIN85;GIG10;HSB-1;HSB1;MIG18 CD2-binding protein 3;OTTHUMP00000023022;OTTHUMP00000023024;OTTHUMP00000023025;OTTHUMP00000023028;SH3 domain-containing kinase-binding protein 1;Src family kinase-binding protein 1;c-Cbl-interacting protein;cbl-interacting protein of 85 kDa;human Src family kinase-binding protein 1;migration-inducing gene 18;src-related kinase binding protein-1 APPROVED protein-coding ENSG00000147010 HGNC:13867 02301 300374 REVIEWED 737159 SHC3 SHC (Src homology 2 domain containing) transforming protein 3 ENCODES a protein that exhibits signal transducer activity (inferred); INVOLVED IN central nervous system development (inferred); epidermal growth factor receptor signaling pathway (inferred); insulin receptor signaling pathway (inferred); PARTICIPATES IN chronic myeloid leukemia pathway; epidermal growth factor/neuregulin signaling pathway; glioma pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH arsenite(3-); atrazine; genistein 9 9 9 q22.1 62203335 62375878 - 91620686 91793682 - 89005771 89178767 - 6480464;6907045;8554872 11520933;11812778;11877420;12006576;12074588;12185581;12242309;12446789;12477932;14702039;15489334;15735675;15870690;15940252;16273093;16436505;17179996;17919311;18997821;19748727;20379614;21046104;21900206;22311806;22331829;7739560;8610109;8760305;8808684;9325171;9345034;9507002;9690470 53358 Q5T7I8;Q92529 ABBA01004615;ABBA01004616;ABBA01004617;AK127258;AL160054;AL353150;AL772202;AMYH02021184;AMYH02021185;BC026314;BC042431;BX538228;BX641139;CH471089;D84361;HG502215;NM_016848;XM_005252052 AAH26314;ABM87662;BAA12322;BAA12323;EAW62759;EAW62760;NP_058544;Q92529;XP_005252109 Hs.292737 1665398;1704088;1720169;1720749;1767184;2111370;2118264;2127934;2129654;2149311;5093198 A009J17;D9S1143;D9S1758;D9S981E;G32578;G59348;RH11756;RH123995;SHGC-36196;SHGC-53160;SHGC-83360 DKFZp686H1544;FLJ45325;N-Shc;NSHC;RAI;RP11-82L18.4;SHCC OTTHUMP00000021614;SH2 domain protein C3;SHC-transforming protein 3;SHC-transforming protein C;neuronal Shc;src homology 2 domain-containing transforming protein C3;src homology 2 domain-containing-transforming protein C3 protein-coding HGNC:18181 12005 605263 VALIDATED 1602620 SHC4 SHC (Src homology 2 domain containing) family, member 4 ENCODES a protein that exhibits protein domain specific binding (inferred); receptor tyrosine kinase binding (inferred); INVOLVED IN apoptotic process (inferred); intracellular signal transduction (inferred); positive regulation of cell proliferation (inferred); PARTICIPATES IN chronic myeloid leukemia pathway; epidermal growth factor/neuregulin signaling pathway; glioma pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); postsynaptic membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 15 15 15 q21.1-q21.2 26009561 26149272 - 49115934 49255641 - 48823737 48963507 - 6480464;6907045;8554872 12477932;12975309;17409413;17452444;20078941;20379614;20663410;21621269;22911880;24036217;24250222 399694 F5H5M1;H0YLU6;H0YLZ2;Q6S5L8 ABBA01039134;ABBA01039135;AC012379;AC091073;AK124916;AK125762;AK302156;AMYH02030389;AMYH02030390;AW102644;AY358250;AY464565;BC033907;NM_203349;XM_005254375;XM_005254376;XM_006720503 AAH33907;AAQ88617;AAR19363;BAG54111;BAG54244;BAH13639;NP_976224;Q6S5L8;XP_005254432;XP_005254433;XP_006720566 Hs.642615 1665366;1669494;1671310;1672324;1687389;1719337;1725313;1856041;2124664;2170034;2184479;5014726 G27429;RH118974;RH123395;RH15715;RH47286;RH47316;RH66594;SGC34499;SHGC-34647;STS-N93791;STS-R92213;WI-10566 MGC34023;RaLP;SHCD;hShcD OTTHUMP00000162250;SH2 domain protein C4;SHC-transforming protein 4;SHC-transforming protein D;rai-like protein;src homology 2 domain-containing-transforming protein C4 protein-coding ENSG00000185634 HGNC:16743 15289 VALIDATED 1346921 SHC1 SHC (Src homology 2 domain containing) transforming protein 1 This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 1 1 1 q21 128005799 128017984 - 154934774 154946959 - 154962298 154974483 - 1304398;1625124;1580863;1642523;1643173;1643176;1643171;1643177;1643188;1643185;1642762;2299174;2317988;6480464;6484113;6907045;8554872 12837289;14685170;15044008;15375560;15837797;15998704;16829981;17347799;17360381;17596878;17986714;18175071 10025673;10037694;10049786;10080542;10085134;10086341;10092678;10194451;10224114;10319320;10340378;10382761;10457218;10477722;10477741;10482988;10559276;10570290;10595738;10602027;10623845;10629055;10635327;10650943;10652211;10662798;10675333;10681566;10704825;10708759;10748054;10749680;10764799;10783152;10790433;10803466;10816433;10822173;10891441;10896916;10900203;10921922;10964917;10971656;10996427;11027663;11044453;11071635;11075717;11094073;11287610;11302736;11342545;11349134;11370743;11408594;11432829;11505033;11520933;11533253;11607835;11694516;11707390;11707404;11707405;11714803;11724572;11773443;11782427;11792427;11825908;11827484;11854294;11855827;11877420;11884411;11884620;11888936;11896612;11903040;11948181;11950700;11964172;11980671;12009895;12024011;12048194;12052829;12069755;12114320;12135708;12237775;12400011;12419535;12441060;12446583;12446789;12477932;12485888;12522270;12577067;12586295;12589038;12789267;12808090;12871937;12898421;12925710;14530863;14573619;14665640;14676841;14702039;14749389;14764897;14982882;14983012;14990987;15036421;15094067;15226408;15308584;15316024;15470047;15485499;15488758;15489334;15562031;15588985;15592455;15657067;15688026;15705774;15753984;15812354;15888547;15951569;15992607;16034442;16099422;16113100;16135792;16170380;16186108;16189514;16219545;1623525;16257509;16273093;16436505;16481327;16487929;16519809;16729043;16756945;16825188;16843263;16934220;17001306;17081113;17081983;17158237;17167775;17207965;17380301;17906149;17908971;17938255;17998013;18032526;18067454;18093973;18271526;18279888;18385518;18420583;18480379;18504439;18611262;18660489;18840094;19055724;19172738;19229850;19380743;19383602;19531499;19696221;19826412;19828641;19884766;19889638;19889727;20061561;20111892;20226758;20354186;20379614;20534722;20624904;20637729;20667496;20676142;20697350;20739287;20842738;21139048;21206972;21264241;21439852;21612602;21616139;21706016;21778425;21817106;21828072;21900206;21906983;21933910;21983898;22020565;22039050;22096252;22100252;22101521;22561705;22641095;22661506;22974441;23033271;23267066;23277357;23524280;23529764;23535732;23584453;23606925;23689140;23799367;23815759;23832324;23956138;23990909;23993977;24051437;24250222;24349153;24407288;24797263;24816145;24823637;24845561;7473762;7499194;7506413;7514169;7515480;7516469;7518560;7520523;7524086;7535773;7537361;7537740;7537849;7541035;7541045;7542991;7544002;7544443;7556090;7559478;7559507;7635484;7650013;7657612;7675451;7731718;7739560;7791787;7798267;7806213;7929214;7933095;7953556;7961936;7970715;8035825;8084588;8112292;8125298;8155326;8183561;8195171;8226808;8294403;8400282;8491186;8493579;8524391;8541543;8557643;8577769;8610109;8617812;8621719;8626541;8628261;8631299;8631894;8633037;8643566;8643691;8647288;8656061;8662733;8662748;8662998;8702728;8723348;8761298;8776723;8810325;8874179;8887653;8890167;8918464;8939605;8940017;8940081;8943228;8950973;8995379;9045663;9045692;9047383;9047384;9049300;9058724;9083103;9096689;9121430;9122198;9126968;9129019;9130710;9148935;9174053;9192859;9202037;9209414;9223670;9233773;9234717;9325171;9344843;9346925;9378963;9388490;9434624;9446569;9461587;9488479;9541596;9544989;9614102;9617486;9632636;9659899;9660480;9660833;9685404;9690470;9694850;9710204;9710588;9716598;9733714;9741627;9756944;9804835;9824671;9837978;9856458;9872323;9886492;9927207 6464 H0Y539;P29353;Q5T181;Q5T182;Q5T187;Q5T188;X6R6D0 AB208849;AB451255;AB451379;ABBA01016724;AF455141;AK096169;AK130014;AK225332;AK292143;AK296786;AK315842;AL451085;AMYH02001935;BC011813;BC014158;BC017283;BC033925;BX647136;BX647149;CH471121;NG_029028;NM_001130040;NM_001130041;NM_001202859;NM_003029;NM_183001;U73377;X68148;XM_005245449;XM_005245450;XM_005245451;XM_005245452;Y09847 AAB49972;AAH14158;AAH33925;AAM61859;AAM61860;ADQ32764;BAD92086;BAF84832;BAF98733;BAG59364;BAG70069;BAG70193;CAA48251;CAA70977;EAW53167;EAW53168;EAW53169;EAW53170;EAW53171;NP_001123512;NP_001123513;NP_001189788;NP_003020;NP_892113;P29353;XP_005245506;XP_005245507;XP_005245508;XP_005245509 Hs.433795 1651295;1680647;1847183;2108471;5015861;5015961;5016596;5020740;5022651;5024413;5037552;7185938 D10S16;D11S2921;D15S1477;D7S2830;D8S2279;GDB:631802;L17809;L17877;RH70874;RH98253;SHC1_7874 FLJ26504;SHC;SHCA OTTHUMP00000035407;OTTHUMP00000035408;OTTHUMP00000035409;OTTHUMP00000035471;OTTHUMP00000035472;SH2 domain protein C1;SHC (Src homology 2 domain-containing) transforming protein 1;SHC-transforming protein 1;SHC-transforming protein 3;SHC-transforming protein A;src homology 2 domain-containing-transforming protein C1 APPROVED protein-coding ENSG00000160691 HGNC:10840 02780 600560 REVIEWED 1354140 SHCBP1 SHC SH2-domain binding protein 1 ENCODES a protein that exhibits SH2 domain binding (inferred); INVOLVED IN fibroblast growth factor receptor signaling pathway (ortholog); regulation of neural precursor cell proliferation (ortholog); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 16 16 16 q11.2 31122631 31163484 - 46614466 46655311 - 46580554 46621399 - 6480464;8554872 10086341;12477932;14702039;15009096;15146197;15302935;15324660;15342556;15489334;15778465;16189514;16344560;16964243;17353931;18976975;19531213;19615732;20360068;21139048;21890473;21906983;21963094;22939629;23000965;23667531;23804634;7829101;8125298 79801 I3L3Z1;Q8NEM2 AA401234;ABBA01013773;ABBA01013774;AC092368;AK025662;AK055931;AK225315;AK292164;AK310430;AK315706;AMYH02031965;BC000960;BC030699;BI495128;BP245197;CH471092;CN259555;DB322103;NM_024745 AAH00960;AAH30699;ABW03337;ABW03345;ABW03683;BAB15208;BAB71049;BAF84853;BAG38067;EAW82680;EAW82681;NP_079021;Q8NEM2 Hs.123253 1676792;5017227 G38154;RH78742 FLJ22009;MGC26900;PAL OTTHUMP00000163362;SHC SH2 domain-binding protein 1 protein-coding ENSG00000171241 HGNC:29547 11557 611027 VALIDATED 1313739 SHCBP1L SHC SH2-domain binding protein 1-like INTERACTS WITH mercaptopurine (ortholog); purine-6-thiol (ortholog) 1 1 1 q25.3 155980150 156033661 - 182869000 182922553 - 182899865 182953418 - 6480464 11318611;12477932 81626 Q9BZQ2 AA448460;ABBA01027757;ABBA01027758;ABBA01027759;ABBA01027760;ABBA01027761;AF288397;AF288398;AF297023;AL450304;AL662837;AMYH02002276;AMYH02002277;AMYH02002278;BC026084;BC026086;BC050305;BC132764;BC144326;CH471067;HC006822;HC044501;NM_030933 AAG45336;AAG60616;AAG60617;AAH26084;AAH50305;AAI32765;ADR83382;CBH19217;CBH30580;EAW91139;EAW91140;EAW91141;EAW91142;EAW91143;NP_112195;Q9BZQ2 Hs.497034 1341440;1690314;1704186 D1S2623;RH92759;SHGC-79817 C1orf14;GE36;MGC26911;MGC48296 OTTHUMP00000033451;SHC SH2 domain-binding protein 1-like protein;chromosome 1 open reading frame 14 APPROVED protein-coding ENSG00000157060 HGNC:16788 16634 VALIDATED 1601984 SHD Src homology 2 domain containing transforming protein D ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; cisplatin 19 19 19 p13.3 4217984 4230101 + 4278598 4290720 + 4278601 4290723 + 6480464;8554872 10454579;12477932;14702039;15489334;17207965;9315092 56961 M0QYZ4;M0R1V9;Q96IW2 ABBA01056081;AC008616;AK055673;AK056268;AL390078;AMYH02035282;BC007206;CH471139;NM_020209 AAH07206;ADQ32660;BAB70981;CAB98202;EAW69241;NP_064594;Q96IW2 Hs.7423 2139317 WI-18365 SH2 domain-containing adapter protein D;src homology 2 domain-containing transforming protein D protein-coding ENSG00000105251 HGNC:30633 15337 610481 VALIDATED 1605584 SHE Src homology 2 domain containing E ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; calcitriol 1 1 1 q21.3 127523605 127546174 - 154442118 154474786 - 154469637 154502050 - 6480464;8554872 12477932;12693554;15489334;16710414;22082156;9315092 126669 H0YJQ6;H0YJR4;Q5VZ18 ABBA01049487;AI797276;AK074067;AK126006;AK131004;AL162591;AMYH02001925;BC117210;BC143765;CH471121;CR936667;CR936736;NM_001010846;XM_005244891;XR_241068 AAI17211;AAI43766;BAB84893;EAW53197;EAW53198;NP_001010846;Q5VZ18;XP_005244948 Hs.591481 2176244;5014019;5022450;5037552 D10S275;D5S2354;D8S2279;SHGC-33085 DKFZp451D1511;DKFZp686E14106;RP11-350G8.8 OTTHUMP00000034319;SH2 domain-containing adapter protein E protein-coding ENSG00000169291 HGNC:27004 17293 610482 VALIDATED 1626597 SHFM1P1 split hand/foot malformation (ectrodactyly) type 1 pseudogene 1 5 5 5 q14.1 77092143 77092596 + 81188257 81188710 + 81892438 81892891 + 9060422 153842 ABBA01062062;AC026726;AMYH02011690;NG_001311;U61847 1675253 RH36546 DSS1P1;SHFM1P APPROVED pseudo HGNC:24454 INFERRED 1602197 SHF Src homology 2 domain containing F INVOLVED IN apoptotic process (inferred); PARTICIPATES IN platelet-derived growth factor signaling pathway; INTERACTS WITH lithium chloride; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); phenobarbital (ortholog) 15 15 15 q21.1 22350695 22384650 - 45459412 45493373 - 45167214 45201175 - 6480464;6484113 11095946;12477932;14702039;15146197;23360421;8889548 90525 B3KTY1;F8W6V4;H0YKA8;H0YLD8;H0YLM1;H0YLW6;H0YMN4;H0YN16;H0YNF2;H0YNJ2;Q7M4L6 ABBA01039186;ABBA01039187;ABBA01039188;AC051619;AK094391;AK096267;AK123658;AK301625;AK303749;AMYH02030351;AMYH02030352;BC007586;BC101601;BC101603;BC143601;BC171730;BM669861;BX332806;BX416415;BX446025;CH471082;CN287519;NM_001301168;NM_001301169;NM_001301170;NM_001301171;NM_138356;XM_005254765;XM_005254767;XM_005254769;XM_005254770;XM_005254771;XM_006720740;XM_006720741;XM_006720742 AAH07586;AAI01602;AAI01604;AAI43602;AAI71730;BAC04345;BAG53243;BAG63110;BAG64721;EAW77298;EAW77299;EAW77300;EAW77301;NP_001288097;NP_001288098;NP_001288099;NP_001288100;NP_612365;Q7M4L6;XP_005254822;XP_005254824;XP_005254826;XP_005254827;XP_005254828;XP_006720803;XP_006720804;XP_006720805 Hs.310399 2159933;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;RH66736 MGC126650;MGC126652 OTTHUMP00000162042;SH2 domain-containing adapter protein F protein-coding ENSG00000138606 HGNC:25116 14272 VALIDATED 1346269 SHFM2 split hand/foot malformation (ectrodactyly) type 2 ASSOCIATED WITH SPLIT-HAND/FOOT MALFORMATION 2 (inferred) 7240710 8454282 6463 1702476;5112581 DXS294;HPRT HGNC:10846 313350 1349756 SHFM1 split hand/foot malformation (ectrodactyly) type 1 The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008] 7 7 7 q21.3 91018094 91039215 - 96318079 96339203 - 96688767 96709891 - 6480464;6907045;7240710 10373512;12228710;12477932;12690205;12853948;15117943;15489334;15610744;16189514;16205630;16239144;17066443;17323924;17406092;17563742;18270339;18775730;1877619;18950845;1895319;19013454;19690177;20220765;20610542;20694011;20732625;20808887;20817001;21900206;21906983;22343721;23024267;23371468;23824909;24289229;24515614;24811749;24816145;8733122;9847074;9927667 7979 F2Z2L7;F2Z2N6;F2Z309;P60896;Q6IBB7 ABBA01045763;AC073230;AK291070;AK309241;AMYH02016308;BC032782;CH236949;CH471091;CR456887;NG_009273;NM_006304;U41515 AAA91179;AAH32782;AAQ93368;BAF83759;CAG33168;EAL24125;EAW76746;EAW76747;NP_006295;P60896 Hs.489201 1337313;1675253;1765671;5024516;7187002;7187948 D13S1568;D7S479;RH36546;SHGC-149111 DSS1;ECD;SEM1;SHFD1;SHSF1;Shfdg1 26S proteasome complex subunit DSS1;OTTHUMP00000198236;deleted in split hand/split foot protein 1;deleted in split-hand/split-foot 1;split hand/foot deleted protein 1;split hand/foot malformation type 1 protein APPROVED protein-coding HGNC:10845 03182 601285 REVIEWED 1353356 SHISA2 shisa family member 2 INVOLVED IN multicellular organismal development (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; arsenite(3-) 13 13 13 q12.13 7686949 7693412 - 26618735 26625198 - 26044597 26051060 - 6480464 12477932;12975309;15340161;17481602;18976975;22889411 387914 Q6UWI4 ABBA01007912;AL139004;AMYH02027728;AY358775;BC132898;BC137092;CH471075;NM_001007538 AAI32899;AAI37093;AAQ89135;EAX08378;NP_001007539;Q6UWI4 Hs.433791 5015881;5024605 GDB:335751;RH75489 C13orf13;PRO28631;TMEM46;WGAR9166;bA398O19.2 OTTHUMP00000018153;chromosome 13 open reading frame 13;hShisa;protein shisa-2 homolog;shisa homolog 2;transmembrane protein 46 APPROVED protein-coding ENSG00000180730 HGNC:20366 16589 VALIDATED 2292184 SHISA3 shisa family member 3 INVOLVED IN multicellular organismal development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; cisplatin 4 4 4 p13 42847702 42852350 + 42399856 42404504 + 42397839 42402487 + 6480464;8554872 12477932;17481602 152573 A0PJX4 ABBA01014289;AC024022;AC084010;AMYH02009106;BC012029;BC127690;BC127691;CH471069;NM_001080505 A0PJX4;AAH12029;AAI27691;AAI27692;EAW93002;NP_001073974 Hs.370904 2170280 RH65380 hShisa3 OTTHUMP00000219634;protein shisa-3 homolog;shisa homolog 3 APPROVED protein-coding ENSG00000178343 HGNC:25159 PROVISIONAL 1323817 SHISA4 shisa family member 4 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; calcitriol 1 1 1 q32.1 174981622 174985540 + 201857797 201861715 + 201888669 201892587 + 737633;6480464 12477932 12975309;15489334;16344560;16710414;17481602 149345 Q96DD7 ABBA01027523;AK294106;AK311191;AK316312;AL513217;AMYH02002483;AY358589;BC009558;BC061908;BC066977;BC104444;BC104445;BC111855;BM923401;CH471067;DA130234;NM_198149;NR_030775;XM_006711184 AAH09558;AAH61908;AAI04445;AAI04446;AAI11856;AAQ88952;ACE86765;ACE87451;BAG57441;BAH14683;EAW91378;EAW91379;NP_937792;Q96DD7;XP_006711247 Hs.632471 1671564;1770508 A007G17;SHGC-76135 C1orf40;FLJ18233;MGC102893;MGC129812;MGC129813;TMEM58;hShisa4 OTTHUMP00000033952;protein shisa-4;shisa homolog 4;transmembrane protein 58 APPROVED protein-coding ENSG00000198892 HGNC:27139 12729 VALIDATED 1602716 SHISA5 shisa family member 5 This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 3 3 3 p21.31 48460056 48497388 - 48509197 48542259 - 48467798 48504826 - 6480464;6907045 11042152;12135983;12477932;12761501;14702039;15064722;15231747;16344560;17889823;18624398;19367581;8889548 51246 C9IZ46;F8WCE2;F8WDS1;F8WFD9;H7C2R0;Q8N114 AB097007;ABBA01024645;ABBA01024646;ABBA01024647;AC104448;AC134772;AF151051;AF520698;AI718508;AK056328;AK075441;AK124652;AK298799;AK298842;AK301191;AK310083;AL117413;AL832568;AMYH02006718;AMYH02006719;AMYH02006720;BC001463;BC020279;BI552637;BM929955;BX336842;BX344125;BX379507;CH471055;CS051259;CS488909;DA009534;DA020280;DA025113;DA045437;DA046900;DA657994;NG_033100;NM_001272065;NM_001272066;NM_001272067;NM_001272068;NM_001272082;NM_001272083;NM_016479;XM_005265205;XM_006713188 AAF36137;AAH01463;AAM74232;BAB71152;BAC11623;BAC77360;BAG54061;BAG60934;BAG60969;BAH13428;CAH10587;CAH10718;CAI72125;CAM55983;EAW64885;EAW64886;EAW64887;EAW64888;EAW64889;NP_001258994;NP_001258995;NP_001258996;NP_001258997;NP_001259011;NP_001259012;NP_057563;Q8N114;XP_005265262;XP_006713251 Hs.414579;Hs.664265 1764675;2165349 SHGC-148265;WI-11814 hShisa5 OTTHUMP00000164808;OTTHUMP00000210138;OTTHUMP00000210139;OTTHUMP00000210140;SCOTIN;protein shisa-5;putative NF-kappa-B-activating protein 120;shisa homolog 5 APPROVED protein-coding ENSG00000164054 HGNC:30376 06290 607290 REVIEWED 1602039 SHISA6 shisa family member 6 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (inferred); INTERACTS WITH all-trans-retinoic acid 17 17 17 p12 11175533 11498055 + 11144740 11467380 + 11241423 11564063 + 6480464;8554872 12477932;14702039;16344560;20379614;23251661;23382691;23396134;24262325 388336 Q6ZSJ9;V9GZ25 ABBA01054988;ABBA01054989;ABBA01054990;ABBA01054991;ABBA01054992;ABBA01054993;AC005725;AC007510;AC055825;AK094349;AK095052;AK127379;AK128003;AMYH02032977;AMYH02032978;AMYH02032979;AMYH02032980;AMYH02032981;AMYH02032982;AMYH02032983;AMYH02032984;BC105704;BC105705;BC105706;BC105707;DA362563;DQ070854;NM_001173461;NM_001173462;NM_207386 AAI48580;AAI56587;AAY68487;BAC86949;BAG54617;NP_001166932;NP_001166933;NP_997269;Q6ZSJ9 Hs.592124 1334961;1336395;1340692;1688692;1698782;1708530;1723787;1754655;1766849;1785028;2123732;2179891;2186661;5493567 D17S1546;D17S1875;D17S731;D17S748;RH102954;RH122223;RH48639;RH92936;SHGC-133008;SHGC-152248;SHGC-153164;SHGC-5898;SHGC-85041;UniSTS:487272 FLJ37030;FLJ37733;FLJ45455 OTTHUMP00000205111;OTTHUMP00000205112;OTTHUMP00000205113;protein shisa-6 homolog;shisa homolog 6 APPROVED protein-coding ENSG00000188803 HGNC:34491 13507 VALIDATED 3160513 SHISA9 shisa family member 9 INVOLVED IN regulation of short-term neuronal synaptic plasticity (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN dendritic spine membrane (ortholog); ionotropic glutamate receptor complex (ortholog); synapse (ortholog); INTERACTS WITH valproic acid 16 16 16 p13.12 13170353 13509146 + 12995477 13334273 + 12901620 13240416 + 6480464;8554872 14702039;18677311;20185686;20195266;20379614;23362303;24023788;24324551 729993 B4DS77;H0YNH4 ABBA01006859;ABBA01006860;ABBA01006861;ABBA01006862;ABBA01006863;ABBA01006864;AC009134;AC092324;AC092380;AJ002784;AK000877;AK026131;AK094972;AK299610;AK309038;AK309193;AMYH02031512;AMYH02031513;AMYH02031514;AMYH02031515;AMYH02031516;AMYH02031517;AMYH02031518;AMYH02031519;AMYH02031520;AMYH02031521;CR627300;CR749545;DC375222;H20826;NM_001145204;NM_001145205;XM_005255539 B4DS77;BAG61539;NP_001138676;NP_001138677;XP_005255596 Hs.130661 1337108;1649224;1661496;1662474;1718901;1738593;1738727;1738769;1738841;1777863;2127714;2148701;2159018;2166973;2182613;5015460;5015607;5016403;5022637;5037552 A115XE1;D11S2766;D11S3014;D16S2746;D16S2828;D16S2852;D16S2893;D16S292;D16S3062;D16S3288;D16S741;D8S2279;G02304;L17953;RH123156;RH78567;SHGC-17618;SHGC-2863;SHGC-60505;SHGC-60526 CKAMP44;DKFZp686D24206;DKFZp686E24206;FLJ10015;FLJ37653;FLJ58277;FLJ99079;FLJ99234 OTTHUMP00000205384;OTTHUMP00000205385;cystine-knot AMPAR modulating protein;protein shisa-9;shisa homolog 9 APPROVED protein-coding ENSG00000237515 HGNC:37231 613346 VALIDATED 1352927 SHKBP1 SH3KBP1 binding protein 1 INVOLVED IN protein homooligomerization (inferred); INTERACTS WITH cobalt dichloride; paracetamol; valproic acid 19 19 19 q13.2 37881810 37896356 + 41082757 41097305 + 40576851 40591399 + 729812;1580863;6480464 11152963 12477932;15324660;16169070;16344560;16733801;19531213;19615732;21139048;21145461;21830225;21890473;21906983;21963094;21988832;22678362;23000965;24255178;8619474;9110174 92799 M0QX42;M0QXA4;M0QYB1;M0QYJ9;M0QZE8;M0QZF2;M0QZF4;M0R0E3;M0R0K4;M0R0S1;M0R0S2;M0R1G0;M0R204;M0R2P6;M0R2U6;Q8TBC3 ABBA01040775;ABBA01040776;ABBA01040777;AC010412;AC020929;AF258553;AK075057;AK123695;AK297006;AK300808;AK300819;AK312748;AMYH02036117;AMYH02036118;AY007117;BC007653;BC022855;CA416700;CH471126;CQ834620;DB038927;NM_138392;XM_006723474;XM_006723475 AAG23756;AAH07653;AAH22855;BAC11374;BAG35616;BAG53940;BAG59542;BAG62464;BAG62474;CAH05525;EAW56979;EAW56980;EAW56981;NP_612401;Q8TBC3;XP_006723537;XP_006723538 Hs.26506 1689923;1798220 RH94117;SPTBN4_2491 PP203;Sb1 SH3KBP1-binding protein 1 protein-coding ENSG00000160410 HGNC:19214 15338 VALIDATED 1323770 SHMT1 serine hydroxymethyltransferase 1 (soluble) This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 17 17 17 p11.2 19172258 19207893 - 18231187 18266856 - 18327860 18363563 - 1359815;1580863;2300328;2300383;2300321;2300329;6480464;6907045;7242557;7242561;8554872 15671219;17031801;17311260;17896178;22108709;22332074;3110140 10549165;10995219;11063567;11278996;11386852;11516159;11997338;12161434;12477932;12604405;12615003;14656021;15059614;15060097;15122597;15198953;15489334;15531579;15598699;15797993;16006999;16046727;16049973;16169070;16365025;16447238;16536979;17035141;17074544;17113224;17119116;17206530;17311259;17420066;17446168;17482557;17595805;17891500;17904392;18029348;18378616;18381459;18427977;18635682;18830263;18996879;19020309;19048631;19056867;19064578;19086053;19159907;19161160;19223009;19336370;19513116;19619240;19692168;19706844;19707223;19734143;19751277;19774638;19776626;19777601;19858780;20031554;20101025;20140262;20386493;20398908;20453000;20458436;20511665;20544798;20615890;20634891;20639865;20670920;20737570;20842733;20852008;20877624;20920350;20977478;21055808;21090237;21139048;21178087;21687976;21890473;21906983;21963094;21987236;21987572;21988832;22044939;22194612;22220685;22505724;22803112;22863883;22939629;23322534;23421317;23474074;24223914;24250222;24362509;24816145;627563;6794659;8125298;8505317;8527925;8533763;8786078;9056951;9573390;9753690 6470 J3KRK5;J3KRZ5;P34896 ABBA01009732;ABBA01009733;AC127537;AF017064;AF017065;AK223552;AK298415;AK302834;AL353997;AMYH02033114;AMYH02033115;AU185281;BC007979;BC022874;BC038598;BM792235;CH471196;DB451683;L11931;L23928;NG_017111;NM_001281786;NM_004169;NM_148918;XM_005256767;Y14485;Y14486;Y14488;Y14489;Y14490 AAA36018;AAA36019;AAA36020;AAA63257;AAC39726;AAH07979;AAH22874;AAH38598;ABM84168;ABW03580;BAD97272;BAG60641;BAG64027;CAB54838;CAB54839;CAB54841;CAB54842;CAB54843;EAW55637;EAW55638;EAW55639;EAW55640;EAW55641;EAW55642;EAW55643;NP_001268715;NP_004160;NP_683718;P34896;XP_005256824 Hs.513987;Hs.592944;Hs.636044 1687117;1722313;1791968;1793018;2109837;2145333;2166908;2169937;5014051;5037552 D17S1715;D8S2278;D8S2279;G33160;G60222;PMC133987P5;PMC186597P1;RH15951;RH75041;SHMT1_8625 CSHMT;MGC15229;MGC24556;SHMT 14 kDa protein;OTTHUMP00000065139;OTTHUMP00000065140;OTTHUMP00000065141;cytoplasmic serine hydroxymethyltransferase;glycine hydroxymethyltransferase;serine hydroxymethyltransferase, cytosolic;serine methylase APPROVED protein-coding ENSG00000176974 HGNC:10850 01643 182144 REVIEWED 736172 SHBG sex hormone-binding globulin This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 17 17 17 p13.1 7543810 7563117 + 7517382 7536700 + 7614064 7633383 + 1625245;1580863;2313783;2313787;2313782;2313784;2313785;6480464 17315164;17562326;17884445;18346991;18505902;19657112 10391209;10419028;10675319;11140838;11473114;12015315;12039072;12054810;12065592;12081841;12151349;12228253;12235141;12477932;12603009;12679434;12753385;12800098;12861158;1400872;14568572;14671199;14694008;14718574;14764814;15028279;15111517;15146368;15193539;15199113;15292305;15489334;15574421;15634719;15664449;15668497;15755867;15784702;15862967;15879463;15894658;16155373;16251630;16331562;16335952;16394089;16757555;16896040;16926255;16949385;16982738;17027360;17027364;17077994;17176215;17189294;17220347;17258903;17411440;17507624;17684316;17706202;17890489;17893265;17952758;17992261;18047273;18056923;18188141;18192296;18312604;18318428;18437557;18464913;18477206;18505907;18624398;18636124;18676680;18681858;18767927;18937076;18949680;18980759;19005973;19015200;19022535;19064566;19064572;19086053;19091090;19124506;19168589;19170196;19179433;19194113;19196890;19327605;19336534;19416531;19429700;19453261;19534810;19557594;19574343;19598235;19625176;19649728;19672706;19679209;19692168;19724880;19733622;19765778;19770023;19929279;19933169;19945451;20105436;20133463;20173016;20200332;20346360;20354921;20368409;20432167;20540673;20634197;20690069;20691435;20716560;20734064;20829367;20839151;20841609;20943702;20974254;21030499;21158891;21178921;21193555;21252242;21261118;21317201;21613632;21660442;21711374;21715040;21803356;21862168;21998597;22047952;22098307;22106826;22210320;22221653;22242800;22301786;22469296;2249477;22547569;22548950;22559844;22591465;22612716;22675492;22711300;22711969;22829776;22882730;22902540;22915343;22926300;22936694;22943902;23001781;23001782;23066943;23102785;23121021;23122048;23164471;23283410;23305451;23318050;23393169;23397084;23408572;23463406;23548728;23594436;23689731;23709655;23765753;23772775;23788303;23801371;23812344;24049095;24121382;24203061;24250222;24386165;24408050;24828613;24848868;2587256;2608061;2956125;2956126;3542030;3569533;3702459;7714097;8964583 6462 B0FWH2;B0FWH5;B0FWH6;B0FWH7;B0FWH8;B4DYU0;I3L0M1;I3L145;I3L1C1;I3L1G4;I3L1J1;I3L2F1;I3L2X4;I3L4B9;I3L4D0;P04278 ABBA01054875;ABBA01054876;AC007421;AK302603;AMYH02032909;AMYH02032910;BC069597;BC101785;BC112186;CD013955;CD013957;CD013958;CH471108;EU352656;EU352657;EU352658;EU352659;EU352660;EU352661;EU352662;EU352663;EU352664;EU352665;EU352666;EU352667;EU352668;EU352669;EU352670;EU352671;EU352672;EU352673;EU352674;EU352675;EU352676;M31651;NG_011981;NM_001040;NM_001146279;NM_001146280;NM_001146281;NM_001289113;NM_001289114;NM_001289115;NM_001289116;X05403;X05792;X05885;X16349;X16350;X16351;XM_005256762;XM_005256765;XM_006721569 AAC18778;AAH69597;AAI01786;AAI12187;ABY67997;ABY67998;ABY67999;ABY68000;ABY68001;ABY68002;ABY68003;ABY68004;ABY68005;ABY68006;ABY68007;ABY68008;BAG63852;CAA28987;CAA29234;CAA29309;CAA34398;CAA34399;CAA34400;EAW90149;EAW90150;NP_001031;NP_001139751;NP_001139752;NP_001139753;NP_001276042;NP_001276043;NP_001276044;NP_001276045;P04278;XP_005256819;XP_005256822;XP_006721632 Hs.632235 1673683;1690458;1792432;2139571;2183546 PMC150924P1;RH18329;RH66154;SHGC-166;SHGC-35513 ABP;MGC126834;MGC138391;SBP;TEBG OTTHUMP00000135293;androgen binding protein;sex steroid-binding protein;testis-specific androgen-binding protein;testosterone-binding beta-globulin;testosterone-estradiol-binding globulin;testosterone-estrogen-binding globulin APPROVED protein-coding ENSG00000129214 HGNC:10839 01646 182205 REVIEWED 1345156 SHISA8 shisa family member 8 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; methyl methanesulfonate; vincristine 22 22 22 q13.2 26112003 26116905 - 42305558 42310671 - 41909533 41914701 - 6480464 440829 B8ZZ34 ABBA01055655;AI763350;AMYH02038449;CR748983;NM_001207020;XM_006724254;XM_006724255;XM_006724256;Z99716 B8ZZ34;NP_001193949;XP_006724317;XP_006724318;XP_006724319 Hs.526704 2184463 IB284 C22orf17;Orf26 CTA-250D10.17;putative protein shisa-8;shisa homolog 8;shisa homolog 8 (Xenopus laevis);transmembrane protein 46-like APPROVED protein-coding ENSG00000234965 HGNC:18351 INFERRED 1350866 SHMT1P1 serine hydroxymethyltransferase 1 (soluble) pseudogene 1 1 1 1 p34 42596943 42599466 - 44315093 44317616 - 43849421 43851956 - 8786078;9156323 6471 ABBA01050941;AL592548;AMYH02000908;NG_002289;NG_028196;X85980 SHMT1P APPROVED pseudo HGNC:10851 INFERRED 3160565 SHISA7 shisa family member 7 FOUND IN integral component of membrane (inferred); INTERACTS WITH furan (ortholog) 19 19 19 q13.42 52980996 53005709 - 55940105 55954230 - 55428738 55442863 - 6480464 11181995;12477932;14702039;15057824 729956 A6NL88;H7C1N4 ABBA01068094;AC135592;AK091660;AK094959;AK127223;AL831832;AMYH02036466;BC093900;BC112197;NM_001145176 A6NL88;AAH93900;AAI12198;BAC03715;BAC04461;BAC86890;NP_001138648 Hs.6664 1679431;1856291;2143923;5493133 NIB1495;RH11812;RH98724;UniSTS:484430 DKFZp547H0214;FLJ34341;FLJ37640;FLJ45290;MGC120935;MGC138402 OTTHUMP00000205373;UPF0626 protein A;protein shisa-6-like;protein shisa-7;shisa homolog 7 APPROVED protein-coding ENSG00000187902 HGNC:35409 VALIDATED 1317750 SHOC2 soc-2 suppressor of clear homolog (C. elegans) This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010] 10 10 10 q25 106410898 106505011 + 112679301 112773425 + 110919543 111013667 + 1580863;6480464;7240710;8554872;8699517 10048485;10783161;12477932;14702039;15489334;16301319;16630891;17314511;19684605;20051520;20071468;20110435;20360068;20882035;21139048;21182205;21548061;21832049;22606262;23000965;23076151;24211266;24816145;25022756;9618511;9674433 8036 Q9UQ13;X6RI37 AB020669;ABBA01063019;ABBA01063020;AF054828;AF068920;AI202318;AK090820;AK292833;AK293271;AL158163;AMYH02023801;AMYH02023802;BC044752;BC050445;BX649055;CH471066;DB451165;NG_028922;NM_001269039;NM_007373 AAC25698;AAC39856;AAH50445;BAA74885;BAF85522;BAG52235;BAG56800;EAW49548;EAW49549;EAW49550;NP_001255968;NP_031399;Q9UQ13 Hs.104315 1700064;2109839;2162242;2162244 A005M36;G20338;RH103645;SHOC2_8774 FLJ60412;KIAA0862;SIAA0862;SOC-2;SOC2;SUR-8;SUR8 OTTHUMP00000020481;OTTHUMP00000020482;leucine-rich repeat protein SHOC-2 APPROVED protein-coding ENSG00000108061 HGNC:15454 04144 602775;607721 REVIEWED 1349053 SHOX short stature homeobox This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] X X;Y X;Y p22.33;Yp11.3 471885 506319 - 585079 620146 + 624344 659411 + 1580863;6480464;7240710;8699517;8554872 11030412;11403039;11716161;11751690;11874178;11889214;11889216;11891678;12089524;12116254;12402330;12784295;12960152;14513875;14981722;15118270;15145945;15173321;15214013;15292358;15529627;15931595;15931687;16175500;16325853;16597678;16807223;16826534;16941489;17182655;17200153;17201812;17881654;17911654;17935511;17994562;18059093;18322641;18797583;19016538;19188742;19578035;19724992;19997128;20301394;20375215;20412871;20683993;20847698;21057177;21057178;21057179;21068148;21147883;21150837;21262861;21273290;21325865;21448463;21454626;21712857;21806840;21912078;21925981;22020182;22071895;22518848;22572840;22791839;22903874;22946287;23028966;23208451;23426705;23426818;23570464;23575226;23666967;24008148;24051572;24248941;24296787;25056248;2602357;6954848;7815426;8558568;9140395;9254856;9259282;9590292;9590293 6473 O15266 ABBA01055801;ABBA01055802;ABBA01055803;AMYH02038646;AMYH02038647;AY628411;BX004827;CH471225;NG_009385;NM_000451;NM_006883;U82668;U89331;XR_247282;XR_247322;Y11535;Y11536 AAC18820;AAI41504;AAI48784;AAT46026;CAA72298;CAA72299;EAW66815;EAW66816;EAW66817;NP_000442;NP_006874;O15266 Hs.105932 1702746;2117941;2156680;5015404;5015961;5022578;5022651;5037552;7185463;7185568 D0S17712;D11S2921;D15S1477;D1S1423;D8S2279;DXYS131;DXYS28;L17705 GCFX;PHOG;SS OTTHUMP00000022821;OTTHUMP00000022822;OTTHUMP00000245276;SHOXY;growth control factor, X-linked;pseudoautosomal homeobox-containing osteogenic protein;short stature homeobox protein;short stature homeobox-containing protein APPROVED protein-coding ENSG00000185960 HGNC:10853 02430 127300;249700;300582;312865;400020 REVIEWED 736918 SHOX2 short stature homeobox 2 This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 3 3 3 q25.32 156237551 156247714 - 157813800 157823952 - 158096011 158106163 - 1580863;6480464 12477932;14702039;14759258;15489334;16344560;19322201;19336002;19453261;20211142;20858598;21047392;21426551;21694641;22094256;22108652;22555092;23038774;23563607;23851611;24026539;24136974;24386354;24421874;9466998;9482898;9858825 6474 A6NLG4;O60902 AA450208;ABBA01058823;AC112502;AF022654;AJ002367;AJ002368;AK095338;AMYH02007990;AMYH02007991;AMYH02007992;BC008829;BX331739;CH471052;DA447204;NM_001163678;NM_003030;NM_006884;XM_006713727;XM_006713728;XM_006713729 AAC39662;AAH08829;ADR82773;BAG53030;CAA05341;CAA05342;EAW78695;EAW78696;EAW78697;EAW78698;NP_001157150;NP_003021;NP_006875;O60902;XP_006713790;XP_006713791;XP_006713792 Hs.55967 1683367;5127339 RH92222;SGC44267 OG12;OG12X;SHOT OTTHUMP00000213397;OTTHUMP00000213398;OTTHUMP00000213399;OTTHUMP00000245277;SHOX homologous gene on chromosome 3;homeobox protein Og12X;paired-related homeobox protein SHOT;short stature homeobox protein 2 APPROVED protein-coding ENSG00000168779 HGNC:10854 602504 REVIEWED 1345880 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010] 3 3 3 p13 72732591 72831743 - 72798426 72897631 - 72749277 72848447 - 737633;6480464 12477932 14702039;18029348;19322201;19383767;19615732;21139048;21890473;21906983;21931644;22085966 55164 C9J6N3;F8WBC6;F8WDZ9;Q6PI26 ABBA01030954;ABBA01030955;AC114876;AC134050;AK001401;AK092962;AK296789;AMYH02007060;AMYH02007061;BC017204;BC017274;BC025270;BC032671;BC039830;BC047879;BX641074;CH471055;NM_018130 AAH17204;AAH17274;AAH25270;AAH32671;AAH39830;AAH47879;BAA91669;BAG59367;CAE46037;EAW65521;EAW65522;EAW65523;NP_060600;Q6PI26 Hs.606584 1749109;1780222;2121774;5037552 D3S3369;D8S2279;SHGC-110789;SHGC-154639 DKFZp686H07226;FLJ10539;Shq1p OTTHUMP00000213535;OTTHUMP00000213537;SHQ1 homolog APPROVED protein-coding ENSG00000144736 HGNC:25543 07682 613663 VALIDATED 7206880 SHQ1P1 SHQ1, H/ACA ribonucleoprotein assembly factor pseudogene 1 10 10 10 q11.23 75545090 75546811 - 52389287 52391008 - 50629527 50631248 - 644451 ABBA01052480;AL596137;AMYH02023055;NG_022146 pseudo HGNC:45013 INFERRED 1318437 SHMT2 serine hydroxymethyltransferase 2 (mitochondrial) This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 12 12 12 q12-q14 57277587 57282945 + 57623356 57628718 + 57229573 57234935 + 1359815;1580863;2300383;6480464;6907045;7242560;7242557;7242561 15671219;20645850;22108709;22332074;3110140 10549165;10828359;11063567;11386852;11516159;12477932;14702039;15146197;15489334;15604093;15635413;16344560;17220478;17353931;17482557;18029348;18063578;18636124;18988749;19048631;19056867;19086053;19513116;19615732;19913121;20186120;20562859;20628086;20877624;21081666;21139048;21145461;21832049;21853274;21890473;21906983;21963094;21987572;22220685;22304920;22505724;22863883;23000965;23798571;24223914;24250222;24583282;24654937;24816145;8125298;8435385;8505317;8999870;9497969;9573390;9639330 6472 B4DJQ3;B4DLV4;G3V241;G3V2D2;G3V2E4;G3V2W0;G3V2Y1;G3V2Y4;G3V3C6;G3V3Y8;G3V4T0;G3V4W5;G3V4X0;G3V540;G3V5L0;H0YIZ0;P34897;Q5BJF5;Q5HYG8;V9HW06 ABBA01026707;AC137834;AK055053;AK223555;AK295941;AK296183;AK297173;AK298231;AK301339;AK301443;AK303827;AK315916;AMYH02026578;BC008066;BC008711;BC011911;BC013677;BC025355;BC032584;BC044211;BC091501;BT006866;BX647711;BX648847;CH471054;CN395976;DA052422;DC339924;DC386590;EU668344;GN344115;L11932;NG_029163;NM_001166356;NM_001166357;NM_001166358;NM_001166359;NM_005412;NR_029415;NR_029416;NR_029417;NR_048562;U23143;Y12331 AAA63258;AAA64572;AAH11911;AAH13677;AAH32584;AAH44211;AAH91501;AAP35512;ABM82235;ABM85356;ACF94497;BAD97275;BAG58725;BAG58915;BAG59666;BAG60500;BAG62887;BAG62969;BAG64774;BAH14287;CAA72999;CAI46021;CAY55993;EAW96993;EAW96994;EAW96995;EAW96996;EAW96997;EAW96998;EAW96999;EAW97000;EAW97001;NP_001159828;NP_001159829;NP_001159830;NP_001159831;NP_005403;P34897 Hs.741179 1682139;1775592;2139180;2183429;2184840;5124166 L11932;RH15808;RH47705;RH71214;RH98752;STS-W84778 GLY A+;GLYA;HEL-S-51e;SHMT OTTHUMP00000245559;OTTHUMP00000245562;OTTHUMP00000245565;OTTHUMP00000245566;OTTHUMP00000245570;epididymis secretory sperm binding protein Li 51e;glycine auxotroph A, human complement for hamster;glycine hydroxymethyltransferase;serine aldolase;serine hydroxymethylase;serine hydroxymethyltransferase, mitochondrial;serine methylase;threonine aldolase APPROVED protein-coding ENSG00000182199 HGNC:10852 00717 138450 REVIEWED 1321190 SHPRH SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008] 6 6 6 q24.3 146946301 147025589 - 146205943 146285421 - 145863967 145964285 - 6480464 12477932;12837266;14702039;15324660;16169070;17108083;17130289;18719106;19615732;20379614;21139048;21396873;21890473;21963094;22242598;23555860;24250222;25023518;7566098 257218 B3KX98;H0YBI0;H7C2W2;K4DI94;Q149N8;Q5JT88 AA315737;AB095943;ABBA01025726;AK075318;AK094944;AK126959;AK130768;AL356599;AL451145;AL833521;AMYH02014652;AY161136;AY163808;BC113089;BC117685;BC117686;BX648322;CH471051;CR749290;NM_001042683;NM_173082;XM_006715439;XM_006715440;XM_006715441;XM_006715442;XM_006715443;XR_245512 AAI13090;AAI17686;AAI17687;AAO06907;AAO26201;BAC04459;BAC11544;BAC23119;BAG54410;CAH18145;EAW47836;EAW47837;EAW47838;EAW47839;NP_001036148;NP_775105;Q149N8;XP_006715502;XP_006715503;XP_006715504;XP_006715505;XP_006715506 Hs.723297 1683491;1695326;1787582;2135390;2148756 RH93573;SHGC-155911;SHGC-64749;STS-N20832;WI-17307 FLJ27258;FLJ37625;FLJ45012;FLJ90837;KIAA2023;MGC134886;bA545I5.2 2610103K11Rik;E3 ubiquitin-protein ligase SHPRH;OTTHUMP00000017363;OTTHUMP00000225216;OTTHUMP00000225224;SNF2, histone-linker, PHD and RING finger domain-containing helicase APPROVED protein-coding ENSG00000146414 HGNC:19336 10476 608048 VALIDATED 732251 SHANK3 SH3 and multiple ankyrin repeat domains 3 This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012] 22 22 22 q13.3 34989101 35047689 + 51113070 51171640 + 50674642 50733212 + 1599213;6480464;6907045;7240710;8554872;8699517 12920066 10414979;10506216;10527873;10574750;10806096;10958799;11258795;11431708;11509555;12065602;12477932;12504591;12626503;14702039;15895082;16059935;16284256;16637659;17173049;17419801;17474147;17999366;18491060;18505557;18615476;19029687;19077115;19348707;19371741;19384346;19428206;19432386;19454329;19545994;19566951;19718887;19736351;20080650;20186804;20301377;20301615;20385823;20442744;20613842;20635403;20715264;20868653;21062623;21271662;21376300;21378602;21575668;21606927;21615902;21624971;21626699;21751912;21779178;21840719;21984749;21988832;22093425;22223503;22509352;22749736;22892527;22966748;23080069;23100419;23225497;23300510;23468870;23897824;23969696;24132240;24153177;24382453 85358 Q9BYB0 AB051437;AB569469;ABBA01042613;ABBA01042614;ABBA01042615;ABBA01042616;AC000036;AC000050;AC002056;AK074038;AMYH02038624;AMYH02038625;AMYH02038626;AMYH02038627;BC018856;BC045765;BC062987;DQ173561;HQ848666;HQ848667;NG_008607;NM_033517 AAH62987;ABA00478;ADY38945;ADY38946;BAB33320;BAB84864;BAJ09793;NP_277052;Q9BYB0 Hs.149035 1656764;1729209 D22S1726;UniSTS:146590 DEL22q13.3;KIAA1650;PROSAP2;PSAP2;SCZD15;SPANK-2 SH3 and multiple ankyrin repeat domains protein 3;proline rich synapse associated protein 2;proline-rich synapse-associated protein 2;sh3/ankyrin domain gene 3;shank postsynaptic density protein APPROVED protein-coding HGNC:14294 606230;606232;613950 REVIEWED 1605292 SHROOM1 shroom family member 1 SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008] 5 5 5 q31.1 128287848 128296605 - 132157833 132166655 - 132822141 132830958 - 6480464 11853319;12477932;16615870;16684770 134549 A6NN40;C9JXU1;Q2M3G4 AB075840;ABBA01068798;ABBA01068799;AC004500;AC004775;AF314142;AMYH02012220;BC104914;BC104916;BC143494;CH471062;EB387851;NM_001172700;NM_133456;XM_005271885;XM_005271886;XM_005271887;XM_006714533;XM_006714534;XR_427704 AAI04915;AAI04917;AAI43495;AAM15526;BAB85546;EAW62310;EAW62311;EAW62312;NP_001166171;NP_597713;Q2M3G4;XP_005271942;XP_005271943;XP_005271944;XP_006714596;XP_006714597 Hs.519574 1687990;1803754;1804550;1804872;1804874;1806508;1809382;1809762;1812428;1814256;1832556;1837292;1841744;2001830;2001832;2001834;2001836;2001838;2001840;2001842;2001844;2001846;2001848;2001850;2001852;2001854;2001856;2001858;2001860;2001862;2001864;2001866;2001868;2001870;2001872;2001874;2001876;2001878;2001880;2001882;2001884;2001886;2001888;2001890;2001892;2001894;2001896;2001898;2001900;2001902;2001904;2001906;2001908;2001910;2001912;2001914;2001916;2001918;2001920;2096516;2096518;2096520;2096522;2096524;5014051;5015619;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;ECD02784;ECD03204;ECD03371;ECD03372;ECD04211;ECD05683;ECD05873;ECD07221;ECD08157;ECD17418;ECD19813;ECD22071;REN71827;REN71828;REN71829;REN71830;REN71831;REN71832;REN71833;REN71834;REN71835;REN71836;REN71837;REN71838;REN71839;REN71840;REN71841;REN71842;REN71843;REN71844;REN71845;REN71846;REN71847;REN71848;REN71849;REN71850;REN71851;REN71852;REN71853;REN71854;REN71855;REN71856;REN71857;REN71858;REN71859;REN71860;REN71861;REN71862;REN71863;REN71864;REN71865;REN71866;REN71867;REN71868;REN71869;REN71870;REN71871;REN71872;RH92995;stSG601549;stSG601550;stSG601551;stSG601553;stSG601554 APXL2;KIAA1960 OTTHUMP00000066201;OTTHUMP00000066202;OTTHUMP00000066204;apical protein 2 APPROVED protein-coding ENSG00000164403 HGNC:24084 10655 611179 VALIDATED 736829 SHH sonic hedgehog This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008] 7 7 7 q36 150021217 150030626 - 155595558 155604967 - 155802864 155812273 - 1580354;1580863;628387;2306294;2306299;5510013;5510025;5490965;6480464;6484113;6907045;7240710;8554872;8699517 12417650;16282375;18228117;18827446;19506583;20716670;20844013 10050855;10441331;10556296;10654605;11001584;11076863;11175816;11331587;11359461;11395778;11471164;11572986;11576188;11857543;11983699;12032320;12221011;12394760;12421920;12477932;12495844;12503095;12514186;12533514;12547712;12629553;12632368;12690205;12709790;12773389;12783258;12837695;12853948;12917489;12926841;14520411;14520413;14691301;14727139;14733907;14764698;15128061;15170664;15221788;15238528;15249145;15249678;15292211;15314219;15470048;15502857;15521068;15592520;15675968;15790807;15905200;15939571;15998911;16003737;16159933;16244652;16300466;16322088;16323008;16335952;16448649;16528374;16540513;16571640;16701100;16778137;16786128;16945339;17007023;17035233;17050669;17102592;17152067;17227833;17353904;17378681;17390043;17392427;17409199;17414057;17461467;17507406;17611415;17628016;17761145;17850284;17895245;17914115;17927850;18063705;18156157;18174246;18178630;18308861;18332216;18410549;18417549;18422746;18425375;18463159;18524848;18534984;18629868;18655123;18661269;18691547;18701018;18772349;18776754;18776995;18787206;18788453;18829478;18836447;18953259;18974107;18997815;19004543;19055941;19057928;19074837;19177589;19219074;19240184;19244133;19254376;19291772;19363151;19398181;19407245;19431187;19432668;19453261;19460624;19540662;19548265;19561609;19564910;19577569;19593328;19603532;19622100;19629560;19633682;19662327;19730683;19738389;19784071;19788370;19801637;19834598;19836325;19847792;19856079;19862523;19901516;19906872;19920144;19952108;19996099;20015350;20026066;20053908;20066439;20087349;20137639;20146882;20186790;20200556;20218977;20219995;20301552;20301702;20336604;20425842;20440271;20508033;20512148;20526338;20531442;20538960;20561215;20564213;20578145;20619754;20634891;20643644;20720195;20842831;20854074;20938369;20972907;21039988;21059263;21110116;21129534;21172305;21190179;21249152;21338440;21357747;21372638;21376786;21424326;21434830;21441223;21496866;21498615;21520153;21537345;21597001;21633164;21646478;21649559;21685941;21707705;21720384;21732818;21824197;21861243;21940735;21940988;21945071;21953141;21975935;21984201;22020162;22049079;22052462;22056874;22114142;22123293;22125638;22130025;22144466;22240607;22241722;22262830;22264144;22264356;22310223;22350753;22354771;22388744;22407314;22432023;22461522;22486854;22513293;22535603;22543708;22554932;22559324;22581926;22609357;22677152;22679015;22683912;22786669;22791840;22797776;22811598;22875023;22897141;22901214;22902404;22903933;22941587;22948179;22995914;23023967;23027863;23027964;23041623;23091001;23112049;23172661;23249701;23284750;23322567;23336661;23340176;23395608;23468532;23476075;23493353;23504944;23551431;23596255;23667589;23709101;23835807;23867461;23867465;23894369;23934731;23935859;23967143;23998958;24004862;24058673;24072710;24076665;24095799;24174682;24366871;24925370;24927541;24954133;7590746;7720571;8012391;8012392;8269518;8647801;8896571;8896572;8906787;9115210;9302262;9593755;9811851 6469 C9JC48;F8WB84;F8WEH4;Q15465 AB020410;ABBA01032387;AC002484;AC078834;AMYH02017140;AY422195;AY927450;CH236954;CH471149;HM015597;L38518;NG_007504;NM_000193 AAA62179;AAB67604;AAI11926;AAQ87879;AAS01990;ADL14518;BAA34689;EAL23913;EAX04543;NP_000184;Q15465 Hs.164537 1337406;1744489;1769068;2106815;2153940;7184768 D7S550;D7S559;GDB:456307;RH69762;RH71367;UniSTS:465494 HHG1;HLP3;HPE3;MCOPCB5;SMMCI;TPT;TPTPS OTTHUMP00000199886;sonic hedgehog homolog;sonic hedgehog protein APPROVED protein-coding HGNC:10848 02838 142945;147250;269160;600725;611638 REVIEWED 1351345 SHROOM2P1 shroom family member 2 pseudogene 1 X Y Y q11.21 1646906 1649068 + 14652993 14655155 + 12541058 12543220 + 12815422 10031 ABBA01065638;AC004617;AC244504;NG_002803 2188339;2188341;5095114;5095116;5095118;5095120 APXLP-4;APXLP-4-2;APXLP-4-3;APXLP-4-4;G66206;G66207 APXLP APPROVED pseudo HGNC:631 INFERRED 1343092 SHROOM2 shroom family member 2 The protein encoded by this gene shares significant similarities with the apical protein from Xenopus laevis which is implicated in amiloride-sensitive sodium channel activity. This gene is a strong candidate gene for ocular albinism type 1 syndrome. [provided by RefSeq, Jul 2008] X X X p22.3 13926415 14088764 + 9754496 9917585 + 9786456 9949545 + 1580863;6480464;8554872 12477932;14702039;15324660;15772651;16615870;16684770;17081983;17474147;17979178;19056867;21248203;22634755;23535732;7795590 357 C9IZC6;F5H3B6;Q13796 ABBA01070761;ABBA01070762;ABBA01070763;ABBA01070764;ABBA01070765;ABBA01070766;ABBA01070767;ABBA01070768;ABBA01070769;ABBA01070770;ABBA01070771;AC002365;AC090481;AC135254;AK096596;AK299907;AMYH02038837;AMYH02038838;AMYH02038839;AMYH02038840;AMYH02038841;AMYH02038842;BC140866;CH471074;CR749271;KF458965;KF458967;KF458968;KF458973;KF458974;NG_012493;NM_001649;X83543;XM_005274500 AAC32592;AAI40867;BAG53335;BAH13168;CAA58534;CAH18127;EAW98774;NP_001640;Q13796;XP_005274557 Hs.567236 1654028;1668780;1693540;1694004;1694014;1711832;1745275;1745277;1745281;1745283;1745327;1745329;1745331;1745333;1745335;1745339;1745341;1745343;1745345;1745347;1745349;1745351;1745353;1745355;1745357;1745365;1745367;1745369;1745371;2106427;5017883 A007I24;AF003658;AF003664;APXL__4346;G49443;GDB:597633;GDB:597645;GDB:597735;GDB:599051;GDB:599415;GDB:599441;GDB:599465;GDB:599475;GDB:599486;GDB:599499;GDB:599508;GDB:599514;GDB:599521;GDB:599525;GDB:599536;GDB:599539;GDB:599542;GDB:599551;GDB:599554;GDB:603613;GDB:603624;GDB:603627;GDB:603631;RH18181;SHGC-58453;SHROOM2 APXL;DKFZp781J074;FLJ39277;HSAPXL APX homolog of Xenopus;OTTHUMP00000022887;apical protein, Xenopus laevis-like;apical protein-like (xenopus laevis);apical-like protein APPROVED protein-coding ENSG00000146950 HGNC:630 02113 300103 REVIEWED 1346980 SHS Sutherland-Haan X-linked mental retardation syndrome ASSOCIATED WITH Alpha-Thalassemia Myelodysplasia Syndrome (inferred); ATR-X syndrome (inferred); Mental retardation-hypotonic facies syndrome, x-linked, 1 (inferred) 7240710 1605216;3177467 347679 HGNC:10855 300448;301040;309500;309580 1606521 SHROOM4 shroom family member 4 This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to Stocco dos Santos X-linked mental retardation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] X X X p11.22 54378231 54600597 - 50334642 50557044 - 50591642 50814044 - 6480464;7240710;8554872;8699517 10574462;10737800;12477932;12673656;14702039;16249884;16615870;16684770;18029348 57477 Q9ULL8 AB033028;ABBA01060069;ABBA01060070;ABBA01060071;ABBA01060072;ABBA01060073;ABBA01060074;ABBA01060075;ABBA01060076;ABBA01060077;ABBA01060078;ABBA01060079;ABBA01060080;ABBA01060081;ABBA01060082;ABBA01060083;ABBA01060084;ABBA01060085;ABBA01060086;ABBA01060087;ABBA01060088;ABBA01060089;ABBA01060090;ABBA01060091;ABBA01060092;ABBA01060093;ABBA01060094;ABBA01060095;AC233286;AK092659;AK127486;AL121865;AL359272;AL445491;AMYH02039362;AMYH02039363;AMYH02039364;AMYH02039365;AY044234;BC151240;BI018520;CH471180;NG_011882;NM_020717;NR_027121;XM_006724590;XM_006724591 AAI51241;AAK95579;BAA86516;EAW89917;EAW89918;NP_065768;Q9ULL8;XP_006724653;XP_006724654 Hs.420541 1334583;1644128;1649062;1667077;1703116;2127423;2128953;2139194;2164602;2171191;2182460 AFM308zg9;DXS1184;DXS1186;DXS6824;DXS7045;DXS8023;DXS8372;L77286;L77293;L77314;sWXD1434 KIAA1202;SHAP OTTHUMP00000195166;OTTHUMP00000217073;second homolog of apical protein APPROVED protein-coding ENSG00000158352 HGNC:29215 17209 300434;300579 REVIEWED 1604014 SIAE sialic acid acetylesterase This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011] 11 11 11 q24 121665869 121703894 - 124505685 124546199 - 124635789 124676303 - 6480464;7240710;8554872 10464298;12477932;14702039;15292578;15489334;16344560;16502470;18711365;19056867;19913121;20555325;20628086;21183218;21615338;21803834;22257840;22268729;22913750;23011869;23308225 54414 Q9HAT2 AA938533;ABBA01031254;ABBA01031255;AF300796;AF303378;AK056093;AK092224;AL137496;AMYH02025723;AMYH02025724;AP000890;AP001524;BC022456;BC040966;BC068450;CA778291;CH471065;DB027544;NG_028132;NM_001199922;NM_170601;XM_005271592 AAG14897;AAG15386;AAH68450;ACE87400;BAG51622;CAB70771;EAW67591;NP_001186851;NP_733746;Q9HAT2;XP_005271649 Hs.10056 1698744;2109201;5016478;5037552 CSE-_C_9780;D8S2279;GDB:434012;RH102935 AIS6;CSE-C;CSEC;H-Lse;LSE;MGC87009;YSG2 OTTHUMP00000231526;cytosolic sialic acid 9-O-acetylesterase homolog;sialate O-acetylesterase;sialic acid-specific 9-O-acetylesterase;sialic acid-specific acetylesterase II APPROVED protein-coding ENSG00000110013 HGNC:18187 16764 610079;613551 REVIEWED 2302187 SIAH1P1 siah E3 ubiquitin protein ligase 1 pseudogene 1 X X X p21.1 39771630 39774177 + 35644130 35646678 + 35626013 35628561 + 19642869 340571 ABBA01073492;ABBA01073493;AL359734;AMYH02039164;NG_011405 SIAH1L APPROVED pseudo HGNC:30966 INFERRED 6481354 SIAH2-AS1 SIAH2 antisense RNA 1 100874005 AC011317 APPROVED ncrna HGNC:40526 734303 SIAH2 siah E3 ubiquitin protein ligase 2 This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008] 3 3 3 q25 148871981 148894332 - 150458910 150481263 - 150741123 150763476 - 1580863;5128512;6480464 16394250 10207103;10681424;10704288;11389839;11483518;11786535;12136098;12411493;12477932;12810624;12952940;14645235;14654780;14702039;15064394;15210114;15221006;15231748;15466852;15489334;16141343;16174773;16713569;16888801;16899216;16958618;17003045;17533377;17683050;17716627;17998205;18070888;18323779;18629630;18850011;19001609;19043406;19224863;19240029;19730683;19744480;20691163;21037926;21306611;21586138;21659512;21988832;22037423;22037769;22053931;22064479;22065755;22128162;22323152;22350919;22878263;22951594;23044042;23208506;23500468;23518348;23644657;23645672;23891150;24222137;24250222;8125298;8889548;9334332;9403064;9858595 6478 C9J9D7;O43255 ABBA01058920;ABBA01058921;AC011317;AJ323446;AK055290;AK223565;AMYH02007890;AW377592;BC013082;BF514387;BM970396;CH471052;NM_005067;U76248;Y15268 AAC51908;AAH13082;BAD97285;CAA75557;EAW78821;NP_005058;O43255 Hs.477959;Hs.692394 1727497;1729377;1798154;1857728;2133514;2148229;2170880 A006R18;G19157;G54350;G63006;SHGC-32660;SIAH2_2129;WI-11588 hSiah2;siah-2 E3 ubiquitin-protein ligase SIAH2;OTTHUMP00000216722;OTTHUMP00000216723;seven in absentia homolog 2 APPROVED protein-coding ENSG00000181788 HGNC:10858 03737 602213 REVIEWED 1603255 SIAH3 siah E3 ubiquitin protein ligase family member 3 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN multicellular organismal development (inferred); ubiquitin-dependent protein catabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrion (inferred); nucleus (inferred); INTERACTS WITH valproic acid 13 13 13 q14.13 27409074 27480538 - 46354405 46425846 - 45780270 45851711 - 6480464;8554872 12477932;14702039;16344560;20379614 283514 Q8IW03 ABBA01050980;AK125411;AL157819;AMYH02027979;AMYH02027980;BC041372;DA804734;NM_198849 AAH41372;AAI48397;NP_942146;Q8IW03 Hs.368483 1749383;2111530;2111650 D13S1502;D13S1578;SHGC-111132 FLJ39203;siah-3 OTTHUMP00000209200;seven in absentia homolog 3 APPROVED protein-coding HGNC:30553 14145 615609 VALIDATED 1351073 SIAH1 siah E3 ubiquitin protein ligase 1 This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008] 16 16 16 q12.1 32903789 32928589 - 48394442 48419229 - 48360531 48393955 - 1580863;6480464;6907045 10207103;10681424;10747903;10956387;11146551;11389839;11389840;11483517;11483518;11752454;11786535;11852084;11863358;12072443;12399545;12421809;12477932;12557228;12646221;12810624;14506261;14645235;14654780;14702039;14985507;15064394;15146197;15163637;15221006;15231748;15273720;15284290;15326481;15467739;15489334;15492505;15951807;16085652;16174773;16189514;16230351;16492755;16615911;16713569;16752048;16899216;17420721;17533377;17683050;17998205;18065497;18070888;18073335;18089810;18276110;18280659;18314624;18536714;18850011;19043406;19224863;19250734;19523119;19549727;19690564;19696028;19775288;19940145;20082325;20144232;20181957;20187294;20471960;20479273;20508617;20604806;20682032;20940148;21057505;21078624;21109632;21185211;21466614;21632771;21633900;21878328;21988832;22037423;22053931;22128162;22295074;22483617;22493164;22534308;23027902;23152621;23208506;23228635;23500468;23503458;24250222;24316825;24882689;8125298;8799150;9334332;9403064;9582267;9822659;9858595 6477 H3BU09;Q8IUQ4 AB451253;AB451377;ABBA01000915;AC023818;AJ400626;AK023458;AK094663;AK225895;AK313861;AMYH02031981;AMYH02031982;AMYH02031983;BC018193;BC035562;BC042550;BC044920;BX357983;BX647064;CH471092;CN360509;EF026094;NG_029599;NM_001006610;NM_003031;U63295;U76247;XM_006721246 AAC12950;AAC51907;AAH35562;AAH42550;AAH44920;ABK15529;ABM81916;ABM85093;BAG36589;BAG52904;BAG70067;BAG70191;CAC35542;CAE46191;EAW82726;EAW82727;NP_001006611;NP_003022;Q8IUQ4;XP_006721309 Hs.706828 1676388;1679363;1684532;1792344;1798152;1854029;2152903;2170217;5015619;5037552;5109281 D11S3114;D1S1425;D8S2279;G20682;PMC149152P1;RH17142;RH64986;RH68065;RH68358;RH75389;SIAH1_2345 FLJ08065;SIAH1A;Siah-1;Siah-1a;hSIAH1 E3 ubiquitin-protein ligase SIAH1;HUMSIAH;OTTHUMP00000164188;OTTHUMP00000164189;OTTHUMP00000164190;seven in absentia homolog 1 APPROVED protein-coding ENSG00000196470 HGNC:10857 03736 602212 REVIEWED 1351927 SIATL1 sialyltransferase-like 1 6486 HGNC:10873 6481374 SIDT1-AS1 SIDT1 antisense RNA 1 100874030 AC112128 APPROVED ncrna HGNC:41126 1317524 SHPK sedoheptulokinase The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008] 17 17 17 p13 3525274 3553357 - 3511556 3539616 - 3608262 3636322 - 1580863;6480464 10673275;12477932;14702039;18186520;19413330;19679847;19913121;20628086;21139048;21906983;21988832;22505724;22682222;24816145 23729 Q9UHJ6 ABBA01054741;ABBA01054742;AC027796;AF163573;AF168787;AK055609;AK057020;AK057040;AK298360;AK312428;AL832420;AMYH02032805;AMYH02032806;BC020543;BC111366;CH471108;KF456228;NM_013276 AAF24936;AAF43103;AAH20543;ABM82572;ABM85761;BAG35337;BAG51543;BAG60602;CAH10646;EAW90501;NP_037408;Q9UHJ6 Hs.579217 5015619;5015861;5015881;5092456;5092460;5092484;7185938 D10S16;D11S3114;G54293;G54296;G54325;GDB:335751 CARKL;FLJ32478;SHK OTTHUMP00000115862;carbohydrate kinase-like protein APPROVED protein-coding ENSG00000197417 HGNC:1492 05451 605060 REVIEWED 1346888 SIDT1 SID1 transmembrane family, member 1 ENCODES a protein that exhibits RNA transmembrane transporter activity (inferred); INVOLVED IN dsRNA transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper atom; copper(0); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 q13.2 111659802 111756995 + 113251218 113348422 + 113532371 113629575 + 1580863;6480464;8554872 10737800;12477932;14702039;15850781;16344560;20379614;22174421;22509261;23259602;23535732 54847 J3KPQ7;Q9NXL6 ABBA01061651;ABBA01061652;AC055740;AC112128;AI004220;AK295938;AK303385;AMYH02007449;AMYH02007450;AMYH02007451;BC117222;BC143776;BC143778;BE839090;BG484269;CH471052;DA217300;DA337075;DB217586;NM_017699;XM_005247558;XM_006713675;XM_006713676;XM_006713677;XM_006713678;XM_006713679;XM_006713680;XR_241500 AAI17223;BAG58723;BAG64441;EAW79633;NP_060169;Q9NXL6;XP_005247615;XP_006713738;XP_006713739;XP_006713740;XP_006713741;XP_006713742;XP_006713743 Hs.591291 1334843;2191351 D3S3683;MARC_17817-17818:1024940184:1 B830021E24Rik;FLJ20174;SID-1;SID1 OTTHUMP00000197051;SID1 transmembrane family member 1 protein-coding ENSG00000072858 HGNC:25967 12111 606816 VALIDATED 1351240 SIDT2 SID1 transmembrane family, member 2 ENCODES a protein that exhibits RNA transmembrane transporter activity (inferred); INVOLVED IN cell morphogenesis (inferred); dsRNA transport (inferred); glucose homeostasis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN lysosomal membrane; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine 11 11 11 q23.3 114207559 114225784 + 117049626 117068161 + 117179223 117197445 + 6480464;8554872 10810093;12477932;12975309;14702039;15340161;16303743;17081983;17897319;19913121;20379614;20628086 51092 C9JBG5;E9PMC3;E9PME7;E9PPN9;F5H8L4;G3V172;H0YEI3;Q8NBJ9 ABBA01039737;AF151799;AK075137;AK075471;AK292501;AK292974;AK301501;AK303023;AMYH02025628;AMYH02025629;AP005018;AY358442;BC114522;BC114959;BX648437;CH471065;KC109742;NM_001040455 AAD34036;AAI14523;AAI14960;AAQ88807;AGC94566;BAC11427;BAC11641;BAF85190;BAF85663;BAG63012;BAG64149;EAW67283;EAW67284;EAW67285;EAW67286;EAW67287;EAW67288;EAW67289;EAW67290;EAW67291;EAW67292;EAW67293;EAW67294;EAW67295;EAW67296;NP_001035545;Q8NBJ9 Hs.712144 1736176;1763117;2110735;2146635;2148410;2165318 D11S2284E;RH18240;SGC34431;SHGC-146847;SIDT2_9663;STS-H39887 CGI-40;DKFZp686L17253;FLJ90656 OTTHUMP00000234982;OTTHUMP00000234985;SID1 transmembrane family member 2 protein-coding ENSG00000149577 HGNC:24272 15345 VALIDATED 1352166 SI sucrase-isomaltase (alpha-glucosidase) This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010] 3 3 3 q25.2-q26.2 163095850 163195264 - 164696686 164796283 - 164978898 165078495 - 1625543;1625544;1625545;1625550;1625548;1580863;6480464;6907045;7240710;8554872;8699517 10864000;12940455;16964428;9724271;9878708 10903344;11003604;11329013;11340066;12477932;1353958;14724820;15522234;1560017;15944403;16329100;16344560;16543230;1677636;16802690;1717481;17194452;19121318;20841351;21165628;23103650;23418305;2962903;3178143;3896809;3925457;7566098;8521865;8609217;9092938 6476 F8WF21;P14410 AA376756;ABBA01058755;ABBA01058756;AC092695;AC140119;AC144561;AMYH02008060;BC115033;BC115034;BC116452;BC116453;BC132834;BC132860;BG187733;CH471052;DA919374;M22616;M84646;NG_017043;NM_001041;X63597 AAA60551;AAI15035;AAI16453;AAI32835;AAI32861;CAA45140;EAW78601;NP_001032;P14410 Hs.429596 1713021;2108477;2115941;5492056 RH120601;SHGC-77505;SI-223F;SI_8627 MGC131621;MGC131622 OTTHUMP00000212594;oligosaccharide alpha-1,6-glucosidase;sucrase-isomaltase, intestinal APPROVED protein-coding ENSG00000090402 HGNC:10856 01962 222900;609845 REVIEWED 1604804 SIGIRR single immunoglobulin and toll-interleukin 1 receptor (TIR) domain INVOLVED IN negative regulation of sequence-specific DNA binding transcription factor activity; acute-phase response (ortholog); negative regulation of chemokine biosynthetic process (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; cyclosporin A 11 11 11 p15.5 20 2647 - 405716 417454 - 405716 417454 - 5490209;6480464;8554872 20081871 10346978;11022119;12477932;12925853;12975309;14702039;14715412;15489334;15866876;16169070;16344560;16432636;19200604;19699681;20130217;20331378;20364327;20506350;21048031;21077278;21187075;21832049;21890473;22223854;22634523;22952899 59307 C9JFX4;E9PK23;E9PLG6;E9PSD9;H0YDF8;H0YDR5;Q6IA17 ABBA01015181;ABBA01015182;AC138230;AK025099;AK093427;AK172830;AMYH02024138;AMYH02024139;AY358342;BC003591;BC025953;BC106007;BX369506;CH471158;CQ893567;CR457338;DA963481;DB112269;NM_001135053;NM_001135054;NM_021805;XM_005253044;XM_005253045;XM_005253046;XM_005253047;XM_005253048;XR_242815;XR_242816 AAH03591;AAH25953;AAI06008;AAQ88708;ABM84379;ABM87289;BAB15066;BAD18795;CAG33619;CAH68705;EAX02324;NP_001128525;NP_001128526;NP_068577;Q6IA17;XP_005253101;XP_005253102;XP_005253103;XP_005253104;XP_005253105 Hs.501624 2110737;2163497 SHGC-64262;SIGIRR_2903 MGC110992;TIR8 OTTHUMP00000229641;OTTHUMP00000229642;OTTHUMP00000229643;OTTHUMP00000229644;OTTHUMP00000229645;single Ig IL-1-related receptor;single Ig IL-1R-related molecule;single immunoglobulin domain IL1R1 related;single immunoglobulin domain-containing IL1R-related protein;toll/interleukin-1 receptor 8 protein-coding ENSG00000185187 HGNC:30575 12018 605478 VALIDATED 1346882 SIGLEC13 sialic acid binding Ig-like lectin 13 474172 HGNC:24184 1316634 SIGLEC10 sialic acid binding Ig-like lectin 10 SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002] 19 19 19 q13.3 48964319 48972101 - 51913275 51921057 - 51410021 51417803 - 1580863;6480464;8554872 11284738;11358961;11409878;12055638;12163025;12477932;12975309;15489334;16344560;17672918;19861682;20237496 89790 B7ZL06;E9PJA1;E9PKV9;E9PL79;Q96LC7 ABBA01068274;AC008750;AF301007;AF310233;AF311905;AK122619;AK289900;AK290542;AK292025;AK294185;AK303514;AK303717;AK308982;AMYH02036380;AY029277;AY032685;AY358337;BC009955;BC101725;BC143497;BC143500;CH471135;NM_001171156;NM_001171157;NM_001171158;NM_001171159;NM_001171161;NM_033130;XM_005259366;XM_005259367;XM_005259369 AAH09955;AAI01726;AAI43498;AAI43501;AAK40255;AAK40256;AAK51124;AAK55139;AAK92542;AAM83254;AAQ88703;BAC85493;BAF82589;BAF83231;BAF84714;BAH11692;BAH13979;BAH14029;EAW72012;EAW72013;EAW72014;EAW72015;EAW72016;NP_001164627;NP_001164628;NP_001164629;NP_001164630;NP_001164632;NP_149121;Q96LC7;XP_005259423;XP_005259424;XP_005259426 Hs.284813 5015619;5015961;5016478;5022450 D10S275;D11S3114;D15S1477;GDB:434012 MGC126774;PRO940;SIGLEC-10;SLG2 OTTHUMP00000230049;OTTHUMP00000230050;OTTHUMP00000230051;OTTHUMP00000230052;OTTHUMP00000230053;OTTHUMP00000230054;sialic acid binding Ig-like lectin 10 Ig-like lectin 7;sialic acid-binding Ig-like lectin 10;siglec-like gene 2;siglec-like protein 2 APPROVED protein-coding ENSG00000142512 HGNC:15620 07307 606091 VALIDATED 1602873 SHROOM3 shroom family member 3 This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011] 4 4 4 q21.1 74657026 75005707 + 77356253 77704406 + 76435100 76783253 + 6480464;8554872 10589677;10767323;10819331;12477932;14702039;14760703;15778465;16615870;19430482;19740415;20208534;20222955;20379614;20383145;20383146;20636464;20700443;21936905;21987572;22797727;22939629;23535967;23586973;24211586;24255178;9847074 57619 B3KY47;Q8TF72 AB040914;AB055660;ABBA01063361;ABBA01063362;ABBA01063363;ABBA01063364;ABBA01063365;AC096743;AC107051;AC107072;AC112249;AC121158;AF109367;AK027744;AK055294;AK124415;AK127929;AK128677;AK304103;AMYH02009513;AMYH02009514;AMYH02009515;AMYH02009516;AMYH02009517;AW025141;BC007291;CH471057;NG_028077;NM_020859;XM_005263162;XM_005263163;XM_005263164;XM_005263165;XM_006714282 AAH07291;AAI56133;AAQ13515;BAA96005;BAB55336;BAB84689;BAC85848;BAC87195;BAG54709;BAG65006;EAX05794;EAX05795;NP_065910;Q8TF72;XP_005263219;XP_005263220;XP_005263221;XP_005263222;XP_006714345 Hs.702168 1335001;1695070;1712631;1714813;1735506;1756431;1771389;1785126;1785138;2112096;2121187;2147516;2147586;2157999;2170161;2219736 D4S1166;D4S2393;D4S2805;D4S3320;D4S789;D5S1629E;G34188;RH120073;RH120166;SGC34670;SHGC-143416;SHGC-155380;SHGC-155720;SHGC-24718;SHGC-51583;ShrmL__5406 APXL3;KIAA1481;MSTP013;SHRM;ShrmL;hShrmL F-actin-binding protein;OTTHUMP00000160595;shroom family member 3 protein;shroom-related protein APPROVED protein-coding ENSG00000138771 HGNC:30422 07053 604570 REVIEWED 1354413 SIGLEC11 sialic acid binding Ig-like lectin 11 This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 19 19 19 q13.33 47321746 47333926 - 50452250 50464439 - 49948993 49961179 - 1580863;6480464 11986327;12975309;16151003;18629938;20203208;20237496;21467073 114132 H7C2S0;Q96RL6 AB072038;ABBA01032906;ABBA01032907;AC011452;AF337818;AMYH02036335;AY358135;CH471177;NG_030323;NM_001135163;NM_052884;XM_005258476;XM_005258477;XR_243888 AAI56823;AAK72907;AAQ88502;BAB86816;EAW52584;EAW52585;EAW52586;EAW52587;NP_001128635;NP_443116;Q96RL6;XP_005258533;XP_005258534 Hs.661852 5020635 D7S3207 OTTHUMP00000211434;OTTHUMP00000211435;sialic acid-binding Ig-like lectin 11;sialic acid-binding lectin 11;siglec-11 APPROVED protein-coding ENSG00000161640 HGNC:15622 06196 607157 REVIEWED 1323674 SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 p13 3729495 3749653 - 3667617 3693213 - 3686970 3712566 - 1580863;6480464;8554872 10406848;10610356;11133773;11214971;11238599;11780052;12477932;14702039;15790807;16002716;17328080;17330143;18383365;18414664;19285973;19950173;20237496;20653431;20800603;22249367;22933622;23271952;23271956;23593001;23610394;23734742;23740482;24196391;8530048 6614 H7C0M6;Q9BZZ2 ABBA01053826;AF230073;AK024459;AK024462;AK024479;AK057560;AK122586;AL109804;AL833688;AMYH02036599;AMYH02036600;AY927519;BC141884;CD365566;CH471133;NM_023068;XM_006723610;XM_006723611;XM_006723612;XM_006723613 AAI41885;AAK00757;BAB15749;BAB15752;BAB15769;BAB71527;BAC56927;EAX10517;EAX10518;NP_075556;Q9BZZ2;XP_006723673;XP_006723674;XP_006723675;XP_006723676 Hs.31869 1335756;1670229 D20S867;STS-H22126 CD169;DKFZp667F058;FLJ00051;FLJ00055;FLJ00073;FLJ00411;FLJ32150;SIGLEC-1;SN;dJ1009E24.1 OTTHUMP00000030124;sialic acid-binding Ig-like lectin 1;sialic acid-binding immunoglobulin-like lectin 1;sialoadhesin APPROVED protein-coding ENSG00000088827 HGNC:11127 02854 600751 REVIEWED 1350480 SIGLEC12 sialic acid binding Ig-like lectin 12 (gene/pseudogene) Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 19 19 19 q13.4 49045653 49056083 - 51994613 52005043 - 51491227 51501789 - 6480464;8554872 11328818;11409877;11546777;12477932;12975309;14702039;15489334;16344560;19913121;20237496;20628086;21555517;23690342;8125298 89858 M0QYF3;Q96PQ1 ABBA01068270;ABBA01068271;AC020914;AF277806;AF282256;AI132995;AK095919;AK225931;AMYH02036384;AY358140;BC035809;CH471135;DA562082;NM_033329;NM_053003 AAH35809;AAK51233;AAK51234;AAK71521;AAQ88507;BAG53167;EAW72022;EAW72023;NP_201586;NP_443729;Q96PQ1 Hs.249741 2106613 SIGLECL1__5415 FLJ38600;S2V;SIGLECL1;SLG;Siglec-12;Siglec-L1;Siglec-XII OTTHUMP00000230066;SIGLEC-like 1;sialic acid-binding Ig-like lectin 12;sialic acid-binding Ig-like lectin-like 1 APPROVED protein-coding ENSG00000254521 HGNC:15482 16195 606094 REVIEWED 1625453 SIGLEC14 sialic acid binding Ig-like lectin 14 ENCODES a protein that exhibits carbohydrate binding (inferred); INVOLVED IN cell adhesion (inferred); innate immune response (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); bis(2-ethylhexyl) phthalate (ortholog); cefaloridine (ortholog) 19 19 19 q13.4 49196890 49201220 - 52145806 52150132 - 51642553 51646879 - 6480464;8554872 12975309;17012248;19369701;23519826;24799499 100049587 Q08ET2 AK298284;AY854038;CA439587;DC428881;NM_001098612;XM_006722958 AAX47338;BAG60544;NP_001092082;Q08ET2;XP_006723021 Hs.707374;Hs.741865 5106015 SHGC-146146 OTTHUMP00000230011;sialic acid-binding Ig-like lectin 14;siglec-14 protein-coding ENSG00000254415 HGNC:32926 VALIDATED 1344689 SIGLEC18P sialic acid binding Ig-like lectin 18, pseudogene 19 19 19 q13.41 48675173 48675679 + 51623087 51623593 + 51119830 51120336 + 11546777 114184 ABBA01068279;AC011473;AMYH02036377;NG_004728 SIGLECP1 APPROVED pseudo HGNC:15491 INFERRED 1354067 SIGLEC17P sialic acid binding Ig-like lectin 17, pseudogene INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; rosiglitazone 19 19 19 q13.3 48722674 48728870 + 51670585 51676780 + 51167328 51173524 + 6480464 11546777;11943481;12477932;22665810 284367 ABBA01068279;AC063977;AF161341;AK301336;AMYH02036378;AY040545;BC035688;BC041072;BC050999;DC340819;KF511279;NR_047529;NR_047530;NR_047531 AAF28901;BAG62884 Hs.132045 HSPC078;SIGLECP2;SIGLECP3 APPROVED pseudo ENSG00000171101 HGNC:15604 VALIDATED 1346125 SIGLEC16 sialic acid binding Ig-like lectin 16 (gene/pseudogene) ENCODES a protein that exhibits carbohydrate binding (inferred); INVOLVED IN cell adhesion (inferred); innate immune response (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH cadmium dichloride; benzo[a]pyrene (ortholog); bis(2-ethylhexyl) phthalate (ortholog) 19 19 19 q13.33 47342409 47348332 + 50472912 50479076 + 49969655 49975819 + 6480464 11546777;11986327;12477932;15057824;15489334;18629938 400709 A6NMB1 ABBA01032906;AC011452;AMYH02036335;BC030222;BC039008;NR_002825 A6NMB1 Hs.568076;Hs.738007 5022651 D11S2921 SIGLECP16;Siglec-P16 pseudo HGNC:24851 PROVISIONAL 1353284 SIGLEC19P sialic acid binding Ig-like lectin 19, pseudogene 19 19 q13.41 48699096 48699546 + 51647011 51647461 + 11546777 114191 ABBA01068279;AC063977;AMYH01009951;NG_004741 SIGLECP2 APPROVED pseudo HGNC:15603 INFERRED 1342613 SIGLEC22P sialic acid binding Ig-like lectin 22, pseudogene 19 19 19 q13.41 48766455 48766934 + 51714366 51714845 + 51211110 51211589 + 11546777 114195 ABBA01068279;AC063977;AMYH02036378;NG_004737 SIGLECP6 APPROVED pseudo HGNC:15611 INFERRED 1604713 SIGLEC15 sialic acid binding Ig-like lectin 15 INVOLVED IN cellular response to lipoprotein particle stimulus (inferred); innate immune response (inferred); regulation of actin cytoskeleton organization (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); protein complex (inferred); INTERACTS WITH 17beta-estradiol; progesterone 18 18 18 q12.3 40213693 40230671 + 43405545 43422521 + 45825580 45842556 + 6480464 14702039;17483134;23035012 284266 B4DVQ9;K7EN40;Q6ZMC9 ABBA01022332;ABBA01022333;AC087685;AK025833;AK092746;AK095432;AK172835;AK290400;AK290402;AK301189;AMYH02034650;AY971516;CH471088;DC299128;NM_213602;XM_005258249 AAY40743;BAD18800;BAF83089;BAF83091;BAG62771;EAX01462;EAX01463;NP_998767;Q6ZMC9;XP_005258306 Hs.287692 CD33L3;HsT1361;SIGLEC-15 CD33 antigen-like 3;CD33 molecule-like 3;OTTHUMP00000244616;sialic acid-binding Ig-like lectin 15 protein-coding ENSG00000197046 HGNC:27596 13011 VALIDATED 1349069 SIGLEC20P sialic acid binding Ig-like lectin 20, pseudogene 19 19 19 q13.41 48740160 48740585 + 51688070 51688495 + 51184814 51185239 + 11546777;11943481 114192 ABBA01068279;AC063977;AMYH02036378;AY040544;NG_004735 SIGLECP1;SIGLECP4 APPROVED pseudo HGNC:15609 INFERRED 1345640 SIGLEC21P sialic acid binding Ig-like lectin 21, pseudogene 19 19 19 q13.41 48754201 48754666 + 51702112 51702577 + 51198856 51199321 + 11546777 114194 ABBA01068279;AC063977;AMYH02036378;NG_004736 SIGLECP5 APPROVED pseudo HGNC:15610 INFERRED 1350448 SIGLEC23P sialic acid binding Ig-like lectin 23, pseudogene 19 19 q13.41 48819422 48820120 + 51767328 51768026 + 11546777 114197 ABBA01068278;AC063977;AMYH01009951;NG_004739 SIGLECP7 APPROVED pseudo HGNC:15612 INFERRED 1353041 SIGLEC24P sialic acid binding Ig-like lectin 24, pseudogene 19 19 19 q13.41 48836172 48836525 + 51784089 51784442 + 51280835 51281188 + 11546777 114196 ABBA01068278;AC063977;AMYH02036378;NG_004738 SIGLECP8 APPROVED pseudo HGNC:15613 INFERRED 1343547 SIGLEC25P sialic acid binding Ig-like lectin 25, pseudogene 19 19 19 q13.41 49015621 49016095 - 51964583 51965057 - 51461329 51461803 - 11546777 114198 ABBA01068274;AC008750;AC020914;AMYH02036382;NG_004740 SIGLECP9 APPROVED pseudo HGNC:15614 INFERRED 1350861 SIGLEC27P sialic acid binding Ig-like lectin 27, pseudogene 19 19 19 q13.41 49062698 49063123 + 52011657 52012082 + 51508403 51508828 + 11546777 114186 ABBA01068270;AC020914;AMYH02036384;NG_004730 SIGLECP11 APPROVED pseudo HGNC:15617 INFERRED 1354111 SIGLEC26P sialic acid binding Ig-like lectin 26, pseudogene 19 19 19 q13.41 49022940 49023821 - 51971903 51972784 - 51468649 51469530 - 11546777 114185 ABBA01068274;AC008750;AC020914;AMYH02036383;NG_004729 SIGLECP10 APPROVED pseudo HGNC:15615 VALIDATED 1347373 SIGLEC28P sialic acid binding Ig-like lectin 28, pseudogene 19 19 19 q13.41 49099633 49100397 - 52048579 52049340 - 51545326 51546087 - 11546777 114187 ABBA01068270;AC020914;AMYH02036384;NG_004731 SIGLECP12 APPROVED pseudo HGNC:15618 INFERRED 1344594 SIGLEC29P sialic acid binding Ig-like lectin 29, pseudogene 19 19 19 q13.41 49118750 49119228 - 52067691 52068169 - 51564438 51564916 - 11546777 114188 ABBA01068269;AC020914;AMYH02036384;NG_004732 SIGLECP13 APPROVED pseudo HGNC:15619 INFERRED 1352871 SIGLEC30P sialic acid binding Ig-like lectin 30, pseudogene 1 1 1 q24.2 143194474 143195101 + 170084664 170085538 + 170115523 170116397 + 11546777 114190 ABBA01027945;AL162428;AL445203;AMYH02002119;NG_004734 SIGLECP14 APPROVED pseudo HGNC:15623 INFERRED 1349427 SIGLEC31P sialic acid binding Ig-like lectin 31, pseudogene 19 19 19 q13.43 54144311 54144848 - 57101322 57101859 - 56589954 56590491 - 11546777 114189 ABBA01020832;AC007228;AMYH02036496;NG_004733 SIGLECP15 APPROVED pseudo HGNC:16072 INFERRED 1348004 SIGLEC6 sialic acid binding Ig-like lectin 6 ENCODES a protein that exhibits carbohydrate binding (inferred); INVOLVED IN cell adhesion (inferred); cell-cell signaling (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); integral component of plasma membrane (inferred); membrane (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; phorbol 13-acetate 12-myristate 19 19 19 q13.3 49073824 49086158 - 52020951 52035110 - 51517697 51531856 - 1580863;6480464;8554872 10428856;12477932;16344560;17580316;18029348;18818296;20237496;21880722;23089140;23171684;9465907 946 O43699 ABBA01068270;AC020914;AK300170;AK300182;AK308174;AK309903;AMYH02036384;AU138048;AY040542;BC035359;BC140798;CA495365;CH471135;D86358;D86359;NM_001177547;NM_001177548;NM_001177549;NM_001245;NM_198845;NM_198846;U71382;XR_243971;XR_243972 AAB70702;AAH35359;AAI40799;AAK83655;BAA24983;BAA24984;BAG61951;BAG61961;EAW72024;EAW72025;EAW72026;EAW72027;NP_001171018;NP_001171019;NP_001171020;NP_001236;NP_942142;NP_942143;O43699 Hs.720304 CD327;CD33L;CD33L1;CD33L2;CDw327;OBBP1;SIGLEC-6 CD33 antigen-like 1;OTTHUMP00000164940;OTTHUMP00000164941;OTTHUMP00000164942;OTTHUMP00000207124;OTTHUMP00000207125;obesity-binding protein 1;sialic acid-binding Ig-like lectin 6 protein-coding ENSG00000105492 HGNC:10875 16058 604405 VALIDATED 1351533 SIGLEC8 sialic acid binding Ig-like lectin 8 Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010] 19 19 19 q13.33-q13.41 49005289 49012746 - 51954251 51961708 - 51450997 51458454 - 1580863;6480464;8554872 10625619;10856141;11095983;11284738;12477932;12609831;15489334;15563466;16157303;16344560;17690326;18036650;18558361;19178537;19458105;20087405;20237496;21938510;21982860;22079334;22324980;22683541;23684072;23835953 27181 C9JT30;Q9NYZ4 ABBA01068274;AC020914;AF195092;AF223403;AF287892;AF310234;AK290149;AK290412;AK295589;AMYH02036382;BC053319;CH471135;DA388103;NM_014442;XR_243922 AAF27622;AAF34702;AAG00573;AAH53319;AAK55140;BAF82838;BAF83101;BAG58481;EAW72018;EAW72019;EAW72020;NP_055257;Q9NYZ4 Hs.447899 5014019;5037552;5109281 D1S1425;D5S2354;D8S2279 CDw329;MGC59785;SAF-2;SAF2;SIGLEC-8;SIGLEC8L sialic acid-binding Ig-like lectin 8;sialoadhesin family member 2 APPROVED protein-coding ENSG00000105366 HGNC:10877 16132 605639 VALIDATED 1353065 SIGLEC9 sialic acid binding Ig-like lectin 9 INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-fluorouracil; sodium dichromate; pirinixic acid (ortholog) 19 19 19 q13.41 48680251 48685654 + 51628137 51639520 + 51124880 51139053 + 1580863;6480464;8554872 10652563;10801860;10801862;10903842;12477932;12975309;14693915;15057824;15292262;15342556;15557178;15827126;16732727;16828866;18325328;18558361;19196661;19295491;19542910;20237496;20497550;20733319;20971061;21821708;24045940;24145038;24569453 27180 M0R2D4;Q9Y336 AB026265;ABBA01068279;AC011473;AC063977;AF135027;AF227924;AF247180;AK297043;AK315272;AMYH02036377;AY358913;BC035365;BP305376;CH471135;NM_001198558;NM_014441;XM_006723146 AAD26428;AAF71455;AAF87223;AAG23261;AAH35365;AAQ89272;ABM83402;ABM86614;BAB41100;BAG59570;EAW71985;NP_001185487;NP_055256;Q9Y336;XP_006723209 Hs.245828 CD329;CDw329;FOAP-9;OBBP-LIKE;siglec-9 OB binding protein-like;sialic acid-binding Ig-like lectin 9 protein-coding ENSG00000129450 HGNC:10878 16133 605640 VALIDATED 69451 SIK1 salt-inducible kinase 1 ENCODES a protein that exhibits 14-3-3 protein binding; ATP binding; magnesium ion binding; INVOLVED IN intracellular signal transduction; positive regulation of anoikis; protein autophosphorylation; FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 21 21 21 q22.3 29940650 29953256 - 44834395 44847002 - 43414515 43427122 - 1580863;6480464 10830953;12477932;14976552;16306228;16341674;16396636;17565599;17939993;18348280;18725536;18976975;19322201;19622832;20223287;20379614;21549091;21963094;21987572;21988832;22378783;22395973;23256157;23577667;24061540;7893599;9920726 150094 P57059 AB047786;AI073528;AK131076;AP001046;AP001047;AP001751;BC038504;BM840872;CF528907;CH471079;NM_173354 AAH38504;ABM83392;ABM86605;BAA95536;BAC85126;BAD74070;EAX09495;EAX09496;NP_775490;P57059 Hs.282113;Hs.700423 1337928;1672298;1696892;1745937;2110967;2123308;2174048 D21S1890;D21S413E;G34752;G64284;RH69307;WI-18985;e04503rbk MSK;SIK;SIK-1;SNF1LK OTTHUMP00000109458;SNF1-like kinase;myocardial SNF1-like kinase;salt-inducible protein kinase 1;serine/threonine protein kinase;serine/threonine-protein kinase SIK1;serine/threonine-protein kinase SNF1-like kinase 1;serine/threonine-protein kinase SNF1LK protein-coding ENSG00000142178 HGNC:11142 09301 605705 VALIDATED 68519 SIGMAR1 sigma non-opioid intracellular receptor 1 This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013] 9 9 9 p13.3 34566222 34569271 - 34634719 34637805 - 34634722 34637826 - 1580863;6480464;8699517;8554872;7240710 10087012;10406945;11149946;11476895;11687279;12477932;14567761;14702039;14706429;15164053;15298647;15489334;15542696;16319298;16388898;16472803;16945406;16954606;17110338;17419803;17457031;17961544;18539593;18583979;18781797;19204726;19279232;19439245;20053954;20178807;20301623;20468064;20562859;21031579;21139048;21211548;21486275;21549171;21605063;21680736;21744858;21842496;21906983;21963094;21987572;21988832;22079628;22322890;22433979;22511599;22561649;22739338;22818711;22952230;23041531;23121507;23536676;23760505;23906352;23988449;24006496;24085347;24204710;24227730;24592734;24616099;8125298;8954936;9341151;9453537 10280 A2A3U5;B4DR71;Q5T1J1;Q99720 ABBA01065009;AF001975;AF001976;AF001977;AF226604;AK098451;AK130502;AK222899;AK291092;AK299130;AL450283;AMYH02019450;AY633611;BC004899;BC006307;BC007839;BC010104;BE018138;BI596428;CH471071;CR457075;DQ644568;DQ647702;DQ656583;NG_029945;NM_001282205;NM_001282206;NM_001282207;NM_001282208;NM_001282209;NM_005866;NM_147157;NR_104108;U75283;U79528 AAB50402;AAB51238;AAC04507;AAF64280;AAH04899;AAH07839;AAV33304;ABG29111;ABG36559;ABG46369;ABM83807;ABM87129;BAC05307;BAD96619;BAF83781;BAG61183;CAG33356;EAW58431;EAW58434;EAW58435;EAW58436;EAW58437;NP_001269134;NP_001269135;NP_001269136;NP_001269137;NP_001269138;NP_005857;NP_671513;Q99720 Hs.522087 1688955;2109601;2148943 OPRS1__6118;RH15753;RH16220 ALS16;FLJ25585;MGC3851;OPRS1;SIG-1R;SR-BP;SR-BP1;SRBP;hSigmaR1;sigma1R OTTHUMP00000021286;OTTHUMP00000021287;OTTHUMP00000159911;SR31747 binding protein 1;SR31747-binding protein;aging-associated gene 8 protein;opioid receptor, sigma 1;sigma 1-type opioid receptor;sigma1 receptor;sigma1-receptor;type I sigma receptor APPROVED protein-coding ENSG00000147955 HGNC:8157 03580 601978;614373 REVIEWED 1346987 SIK2 salt-inducible kinase 2 ENCODES a protein that exhibits ATP binding; magnesium ion binding; protein serine/threonine kinase activity; INVOLVED IN intracellular signal transduction; protein autophosphorylation; protein phosphorylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (ortholog); INTERACTS WITH cobalt dichloride; copper(2+) sulfate; methyl methanesulfonate 11 11 11 q23.1 108626358 108750800 + 111473170 111597635 + 111602446 111726911 + 1580863;6480464;8554872 11230166;12168954;12477932;12624099;14532992;14702039;14976552;15067358;15454081;15489334;15511237;16306228;16712791;18029348;18348280;20367563;20379614;20708153;21139048;21832049;21890473;21906983;21963094;21987572;22462548;23322770;23393134;23577667;24129571;8889548;9872452 23235 Q9H0K1 AB018324;AB084424;AB096248;ABBA01039816;ABBA01039817;ABBA01039818;ABBA01039819;AK000396;AK096463;AK291233;AL136764;AMYH02025573;AMYH02025574;AP000925;BC013612;BC078150;BC113459;BC117183;BM799630;BM982514;CB124295;CH471065;EF445030;KF455509;NM_015191 AAH13612;AAH78150;AAI13460;AAI17184;ACA06072;BAA34501;BAB91442;BAF83922;CAB66698;EAW67146;EAW67147;EAW67148;EAW67149;NP_056006;Q9H0K1 Hs.269128 1646718;1672361;1673842;1687996;1693496;1695888;1730757;1782496;1856669;2111788;2111810;2128040;2137012;2151475;2171341;2179030;5014051;5021872;5037552 A008B02;A008R11;D11S4480;D11S4495;D11S966E;D8S2278;D8S2279;G30492;NIB1902;RH36390;RH99301;SHGC-172824;SHGC-58333;SHGC-78845;STS-N25323;STS-Z40795;WI-14282;WI-15500;sY3084 DKFZp434K1115;KIAA0781;LOH11CR1I;QIK;SIK-2;SNF1LK2 OTTHUMP00000198122;SNF1-like kinase 2;qin-induced kinase;salt-inducible protein kinase 2;salt-inducible serine/threonine kinase 2;serine/threonine-protein kinase SIK2;serine/threonine-protein kinase SNF1-like kinase 2 protein-coding HGNC:21680 12348 608973 VALIDATED 1602049 SIGLECL1 SIGLEC family like 1 FOUND IN integral component of membrane (inferred) 19 19 19 q13.41 48813054 48824675 + 51754332 51772582 + 51251078 51269328 + 11546777;12477932;14702039;23362303 284369 B7ZLS6;M0QY48;M0QY54;M0R2N8;Q8N7X8 AA454064;ABBA01068278;AC063977;AK097554;AK311591;AMYH02036378;BC126357;BC126359;BC144002;CH471135;HC006992;HC044797;NM_173635;NR_102324;XM_005258799;XM_005258800 AAI26358;AAI26360;AAI44003;ADR82847;BAC05098;CBH19301;CBH30728;EAW71997;EAW71998;NP_775906;Q8N7X8;XP_005258856;XP_005258857 Hs.381087 C19orf75;FLJ40235;MGC161635;MGC161637;SIGLEC23P;SIGLECP7 SIGLEC family-like protein 1;hypothetical protein LOC284369;sialic acid binding Ig-like lectin, pseudogene 7;uncharacterized protein C19orf75 APPROVED protein-coding ENSG00000179213 HGNC:26856 08275 VALIDATED 1602207 SIKE1 suppressor of IKBKE 1 SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM, Mar 2008] 1 1 1 p13.2 113541323 113552531 - 115312100 115323308 - 114769479 114780687 - 6480464;6907045 12477932;16281057;16344560;17620012;18029348;18782753;19156129;21906983;23443559;23455922;23649622;24250222;24255178;8125298 80143 Q9BRV8 ABBA01068467;AI039175;AI221103;AK024821;AK126316;AK225734;AL096773;AMYH02001785;BC005934;CH471122;CR749219;CR936771;DA950119;DB459255;NM_001102396;NM_025073;NR_049741;NR_049742 AAH05934;ACE87033;BAB15020;CAH18076;EAW56620;NP_001095866;NP_079349;Q9BRV8 Hs.709277 1663206;1688522;5015961;5022322 D11S2560;D15S1477;RH66176;SHGC-75357 DKFZp686A0768;FLJ21168;RP5-1000E10.4;SIKE OTTHUMP00000013884;OTTHUMP00000013885;suppressor of IKK epsilon;suppressor of IKK-epsilon APPROVED protein-coding ENSG00000052723 HGNC:26119 07958 611656 VALIDATED 1349915 SIGLEC7 sialic acid binding Ig-like lectin 7 ENCODES a protein that exhibits carbohydrate binding (inferred); receptor activity (inferred); INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; fonofos 19 19 19 q13.3 48697643 48708868 + 51645558 51656783 + 51142301 51153526 + 1580863;6480464;8554872 10499918;10514511;10567377;10611343;10764831;11389909;11546777;11774609;11943481;12438315;12477932;12778482;14747738;15292262;15557178;15703304;16623661;16732727;16828866;17138568;18331725;19710502;20237496;22933622;23029261;24330394;24569453;8188688 27036 M0QY65;Q9Y286 ABBA01068279;AC063977;AF170485;AF178981;AF193441;AJ007395;AJ130710;AJ130711;AJ130712;AJ130713;AK314875;AMYH02036377;AY040543;BC028150;BX644517;CH471135;NM_001277201;NM_014385;NM_016543;NR_102350;XM_006723140 AAF06790;AAF12759;AAF44346;AAH28150;AAK83656;BAG37390;CAB46011;CAB51126;CAB51127;CAB51128;CAB51129;EAW71986;EAW71987;NP_001264130;NP_055200;NP_057627;Q9Y286;XP_006723203 Hs.655393 2106613;2109841;5125561 D19S1075;SIGLEC7_9514;SIGLECL1__5415 AIRM-1;AIRM1;CD328;CDw328;D-siglec;QA79;SIGLEC-7;SIGLEC19P;SIGLECP2;p75;p75/AIRM1 QA79 membrane protein;adhesion inhibitory receptor molecule 1, siglec-7;sialic acid binding immunoglobulin-like lectin 7;sialic acid-binding Ig-like lectin 7 protein-coding ENSG00000168995 HGNC:10876 05102 604410 VALIDATED 1605350 SIL1 SIL1 nucleotide exchange factor This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 5 5 5 q31 134404181 134655785 - 138282409 138534065 - 138946720 139198376 - 6480464;6907045;7240710;8554872;8699517 11101517;12356756;12477932;12975309;14512967;15231748;15489334;16282977;16282978;16303743;16502470;16712791;17026626;18285827;18395226;19471582;20111056;20301317;20301371;20430899;21139048;21890473;21906983;21963094;21988832;22115007;22219183;22268729;23000965;23062754;24176978;24250222;2791656 64374 A0RZB6;D6R940;D6RAI3;D6RBP7;D6REA1;D6RG16;D6RIU8;Q9H173 ABBA01068651;ABBA01068652;ABBA01068653;AC008614;AC011378;AC011405;AF547994;AJ299442;AK074624;AK075177;AMYH02012310;AMYH02012311;AMYH02012312;AY358950;BC011568;BI561751;CA415266;CB125000;CD369479;CH471062;CQ783256;DQ059315;DQ173771;DQ173772;KF458017;NG_008112;NM_001037633;NM_022464;XM_006714671 AAH11568;AAN84477;AAQ89309;AAY89591;ABA60425;ABA60426;ABW03472;ABW03779;BAC11096;BAC11452;CAC17773;CAF86460;EAW62120;EAW62121;NP_001032722;NP_071909;Q9H173;XP_006714734 Hs.483521 1339280;1678107;1780834;1780842;5123820 D5S1372;RH91427;STS-W04672;bac5235T;bac5237T BAP;MSS;ULG5 BiP-associated protein;OTTHUMP00000159527;OTTHUMP00000223767;OTTHUMP00000223768;SIL1 homolog, endoplasmic reticulum chaperone;nucleotide exchange factor SIL1 APPROVED protein-coding ENSG00000120725 HGNC:24624 12150 248800;608005 REVIEWED 6481030 SIK3-IT1 SIK3 intronic transcript 1 (non-protein coding) 100874315 AK058022;AP003070;AP006216;NR_046846 Hs.668988 1828052;2003668;2003670;2003690;2003692;2003694;2003696 ECD15149;REN72746;REN72747;REN72757;REN72758;REN72759;REN72760 FLJ25293 miscrna HGNC:41495 VALIDATED 1317540 SIM2 single-minded family bHLH transcription factor 2 This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] 21 21 21 q22.13 23270361 23320891 + 38071991 38122510 + 36699691 36750209 + 1580863;6480464 10400987;10830953;11404025;11782478;12477932;12530058;12676991;14550949;14697214;14701734;15946822;15963499;16129820;16840439;18029348;18160708;19169276;19668230;19737960;20137643;20448453;20467438;22048266;22174909;22777354;22939624;23343470;24162743;24388013;24690990;24814368;24909296;7485157;7568099;7647800;8661114;8812055;8905236;9020169;9199934;9271372;9503011 6493 H7BZX8;Q14190;V9GY04 AB003185;ABBA01057403;ABBA01057404;AI625864;AJ001858;AJ001859;AMYH02037787;AP000697;BC052313;BC110444;CH471079;D44444;D44445;D44446;D44447;D44448;D70838;D85922;KC877877;KF457261;KF510553;NG_029519;NM_005069;NM_009586;U80456;U80457;X83514;X83515;X84790 AAB62396;AAB62397;AAI10445;BAA07906;BAA07907;BAA07908;BAA07909;BAA07910;BAA11108;BAA12919;BAA21489;BAA21490;BAA89433;CAA05055;CAA59261;EAX09737;EAX09738;NP_005060;NP_033664;Q14190 Hs.146186 1672897;1730863;1730865;1735032;1792548;2139134;2142276;2160996;2184531;5022450;5022588 D10S275;D21S1726E;D21S1841;D21S395;D21S396;D5S1597E;G34611;PMC153629P1;SHGC-51958;SHGC-52065;SHGC-87636 HMC13F06;HMC29C01;MGC119447;SIM;bHLHe15 OTTHUMP00000109043;OTTHUMP00000109044;class E basic helix-loop-helix protein 15;single-minded homolog 2;single-minded homolog 2, short isoform;transcription factor SIM2 APPROVED protein-coding ENSG00000159263 HGNC:10883 02935 600892 REVIEWED 1604161 SIMC1 SUMO-interacting motifs containing 1 ENCODES a protein that exhibits SUMO polymer binding; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper atom; copper(0) 5 5 5 q35.2 172729463 172780341 - 175665370 175772992 + 176238367 176345989 + 6480464 12477932;14702039;15144186;15489334;16169070;20936779;21890473;21900206;21906983;23086935;23707407 375484 B4DRM7;Q8NDZ2 ABBA01009220;ABBA01033501;ABBA01033502;ABBA01033503;AC138956;AC139493;AK126204;AK299336;AMYH02012811;AMYH02012812;BC032390;BC037298;BC066980;BC073880;BX390643;DC372557;KF151170;NM_198567;XM_005265909 AAH32390;AAH37298;AAH66980;AAH73880;AGN32860;BAG61339;NP_940969;Q8NDZ2;XP_005265966 Hs.719847 1674569;1681460;1683627;1846848;2146106;2153753;2158442;5093476 A009P29;G20706;G32741;RH41058;RH79163;SGC30272;SGC33650;WI-13355 C5orf25;FLJ44216;FLJ52236;FLJ56998;MGC33586;MGC40402;MGC90345;OOMA1 OTTHUMP00000161247;OTTHUMP00000202935;OTTHUMP00000202936;PLEIAD;SUMO-interacting motif-containing protein 1;hypothetical protein LOC375484;oocyte maturation associated 1;platform element for inhibition of autolytic degradation;uncharacterized protein C5orf25 APPROVED protein-coding ENSG00000170085 HGNC:24779 13486 VALIDATED 1313458 SIGLEC5 sialic acid binding Ig-like lectin 5 This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin (Siglec) family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. The encoded protein is a member of the CD33-related subset of Siglecs and inhibits the activation of several cell types including monocytes, macrophages and neutrophils. Binding of group B Streptococcus (GBS) to the encoded protein plays a role in GBS immune evasion. [provided by RefSeq, Feb 2012] 19 19 19 q13.3 49165841 49184812 - 52114756 52133727 - 51611503 51630474 - 1580863;6480464;8554872 10343116;10428856;11943481;12477932;12763136;15057824;15489334;15769739;16189514;16732727;16828866;17012248;17675532;18022638;18029348;19596804;20231688;20237496;21795693;22215570;22945238;23321067;24068891;24799499;8125298;8889549;9731071 8778 O15389 ABBA01068267;ABBA01068268;AC018755;AF170484;AK225753;AMYH02036385;AMYH02036386;AMYH02036387;AY040820;BC029896;BX106622;CH471135;DC324223;H71235;NM_003830;U71383 AAB70703;AAD50978;AAF87846;AAH29896;AAK77223;ABM83359;EAW72033;NP_003821;O15389 Hs.310333 5106015 SHGC-146146 CD170;CD33L2;OB-BP2;OBBP2;SIGLEC-5 CD33 antigen-like 2;OB binding protein-2;OB-binding protein 2;OTTHUMP00000230009;obesity-binding protein 2;sialic acid-binding Ig-like lectin 5;sialic acid-binding immunoglobulin-like lectin 5 APPROVED protein-coding ENSG00000105501 HGNC:10874 05011 604200 REVIEWED 1348412 SIN3B SIN3 transcription regulator family member B ENCODES a protein that exhibits chromatin binding (inferred); transcription corepressor activity (inferred); INVOLVED IN cardiac muscle tissue development (inferred); cellular lipid metabolic process (inferred); negative regulation of transcription, DNA-templated (inferred); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH (+)-catechin; 17beta-estradiol; all-trans-retinoic acid 19 19 19 p13.11 16841755 16892699 + 16940209 16991166 + 16829398 16880355 + 1580863;6480464;6484113;8554872 10357820;10444591;10570134;11046157;11101889;11102443;11283269;11370785;11909966;11959842;12015313;12398767;12477932;12590135;12670868;14559996;14702039;14749338;15173382;15197246;15467743;15489334;15935060;16166625;16197452;16449650;16464847;16469706;17573780;17991736;18205948;18451802;18586123;19471022;19505873;19553677;19654306;19913121;20170641;20332121;20547842;20585571;20628086;21041482;21139048;21258344;21693764;21906983;21963094;22028823;22203677;22505724;23667531;23752268;24250222;24691445;24709079;7889570;9611234;9620779;9627120;9734811 23309 M0QYC5;M0R271;O75182 AB014600;ABBA01051171;ABBA01051172;AC008737;AK001633;AK295618;AK311023;AMYH02035688;AMYH02035689;AY706204;BC005113;BC025026;BC063531;BC110821;CH471106;DB504745;DC332740;HY055983;KF459583;NM_001297595;NM_001297597;NM_015260;XM_005259832;XM_006722704 AAH05113;AAH25026;AAH63531;AAI10822;AAI72412;AAU01916;BAA31675;BAH12128;EAW84564;EAW84565;NP_001284524;NP_001284526;NP_056075;O75182;XP_005259889;XP_006722767 Hs.13999 1337307;1340913;1656051 A005U36;D19S199;D19S930 KIAA0700 SIN3 homolog B, transcription regulator;SIN3 homolog B, transcriptional regulator;SIN3 transcription regulator homolog B;histone deacetylase complex subunit Sin3b;paired amphipathic helix protein Sin3b;transcriptional corepressor Sin3b APPROVED protein-coding ENSG00000127511 HGNC:19354 09691 607777 VALIDATED 1323140 SIN3A SIN3 transcription regulator family member A The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008] 15 15 15 q24.2 52588161 52674772 - 75661720 75748181 - 75369379 75455815 - 1580863;6480464;6484113;6907045;2311214;9495912;9495916;8695944;5688338;8554872 10441327;17553988;18464933;24063527;24825349 10049357;10207062;10220385;10357820;10431247;10444591;10491605;10521394;10640275;10640276;10644367;10688671;10734189;10737769;10766745;10773092;10823891;10933397;10944117;10950960;11000236;11013263;11102443;11106735;11118214;11118440;11150306;11171972;11238380;11259580;11283269;11306568;11359905;11390640;11416139;11430826;11438660;11439334;11441023;11486045;11585818;11593411;11602581;11682623;11719366;11784859;11882901;11884454;11897684;11909966;11931768;11959865;12006497;12007404;12015313;12036432;12082111;12091390;12124384;12150998;12242670;12374985;12391155;12398767;12453419;12466959;12477932;12493763;12527908;12590135;12612053;12634383;12659862;12670868;12724404;12920132;12943729;14525983;14559791;14559996;14593184;14612411;14647463;14702039;14729951;14749338;14761981;14966270;15148359;15173382;15199122;15235594;15300592;15302935;15314177;15322089;15333839;15345747;15451426;15456747;15467731;15467743;15489334;15509555;15528196;15542849;15684083;15695521;15729358;15899845;15934135;16009940;16030350;16147992;16166625;16227606;16252006;16254079;16331260;16344560;16387653;16449650;16469706;16505006;16728974;16776654;16800816;16805913;16820529;16959795;17011572;17036045;17074803;17081983;17209038;17210713;17255935;17287852;17452459;17612494;17643391;17704768;17803295;17827154;17854949;17962807;18059533;18070604;18156491;18316480;18372343;18451802;18505829;18535655;18585351;18781797;19081374;19144721;19235719;19244234;19339282;19454010;19503603;19509248;19620290;19641626;19805454;20126307;20153263;20189936;20508642;20547842;20585571;20676127;20920219;20935208;21139048;21148318;21149449;21252943;21258344;21440557;21454521;21532573;21549307;21566081;21566083;21658281;21670149;21676866;21693630;21706058;21779366;21890473;21906983;22203677;22318730;22493095;22615490;22647378;22733735;22783022;22890320;22939629;22952844;23000965;23275444;23633923;23752268;24278015;24344258;24457600;24515614;24654937;24816145;24821727;7601471;7889570;8521822;8889548;9150133;9150134;9150135;9184233;9486654;9520398;9620779;9620804;9627120;9651585;9702189;9753732;9765306;9790534;9804427;9885572 25942 H3BMA2;H3BNA0;H3BNZ3;H3BP90;H3BQ76;H3BQ88;H3BQL7;H3BT34;Q96ST3 ABBA01060522;ABBA01060523;ABBA01060524;ABBA01060525;AC068338;AC105137;AF418569;AK027559;AK074800;AK074903;AK096477;AL117513;AL832463;AMYH02030814;AMYH02030815;AY044430;BC018973;BC030563;BC041047;BC052275;BC066364;BC137098;BC137099;BM676304;BX649162;CH471136;DB074084;NM_001145357;NM_001145358;NM_015477;XM_006720465;XM_006720466;XM_006720467 AAH18973;AAI37099;AAI37100;AAK95854;AAP97288;BAB55197;BAC04801;BAC11280;BAG52005;CAB55972;EAW99249;EAW99250;EAW99251;NP_001138829;NP_001138830;NP_056292;Q96ST3;XP_006720528;XP_006720529;XP_006720530 Hs.513039 1341052;1687327;1697018;1697908;1736536;2110739;2141922;5015861;7185938 D10S16;D11S1301;D15S735E;RH101985;RH102482;RH44902;RH91923;SIN3A_8019 DKFZp434K2235;FLJ90319;KIAA0700 OTTHUMP00000183517;OTTHUMP00000183518;SIN3 homolog A, transcription regulator;SIN3 transcription regulator homolog A;histone deacetylase complex subunit Sin3a;paired amphipathic helix protein Sin3a;transcriptional co-repressor Sin3A;transcriptional corepressor Sin3a;transcriptional regulator, SIN3A APPROVED protein-coding ENSG00000169375 HGNC:19353 09690 607776 REVIEWED 1314792 SIPA1L2 signal-induced proliferation-associated 1 like 2 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17alpha-ethynylestradiol; 17beta-estradiol 1 1 1 q42.2 205802459 205919973 - 232533711 232765907 - 232397965 232630161 - 1580863;6480464;8554872 10718198;12477932;14702039;15146197;15489334;15570572;16710414;20379614;20602751;20694011;21906983;21988832;23443559;23602568;24255178;8889548 57568 Q9P2F8 AB037810;ABBA01033061;ABBA01033062;AK022852;AK026779;AK074212;AK093191;AL157409;AL355274;AL356965;AMYH02002901;AMYH02002902;AMYH02002903;AY168879;BC006013;BC013119;BC082251;BC150334;CB242802;CH471098;CN425351;NM_020808;XM_005273209;XM_005273211;XM_005273212;XM_005273213;XM_005273214;XM_006711798;XM_006711799 AAH13119;AAH82251;AAI50335;AAO12530;BAA92627;BAB14273;BAC04090;EAW69971;EAW69972;NP_065859;Q9P2F8;XP_005273266;XP_005273268;XP_005273269;XP_005273270;XP_005273271;XP_006711861;XP_006711862 Hs.745009 1764771;1781782;1851749;1853214;2107577;2113658;2133289 AB046038;D1S1770E;D1S2349;G35298;SHGC-148347;SHGC-155748;SIPA1L2__6836 FLJ23126;FLJ23632;KIAA1389;SPAL2 OTTHUMP00000035939;SIPA1-like protein 2;SPA-1-like 2;signal-induced proliferation-associated 1-like protein 2 protein-coding ENSG00000116991 HGNC:23800 15346 611609 VALIDATED 1320567 SIM1 single-minded family bHLH transcription factor 1 SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome. [provided by RefSeq, Jul 2008] 6 6 6 q16.3 101480981 101555761 - 100832891 100912805 - 100385015 100464929 - 1624165;1580863;6480464;7240710;8699517;8554872 10587584 11076863;11448938;11782478;12161602;12477932;14574404;14697214;14988267;16709610;16924270;18029348;19054571;19401419;20075856;20220015;20734064;21512513;22930747;23778136;23778139;24038875;24814368;8812055;9020169;9199934 6492 P81133 ABBA01014470;AK308090;AL121948;AMYH02014195;CH471051;NG_008230;NM_005068;U70212;XM_005267100;Z86062 AAB62395;AAI11932;AAI18501;EAW48451;NP_005059;P81133;XP_005267157 Hs.520293 1715317;1756355;1793946;1794710;2106617;2159096 AL022494;PMC310662P1;PMC34708P3;RH120490;SHGC-143334;SIM1__5418 bHLHe14 OTTHUMP00000016902;class E basic helix-loop-helix protein 14;single-minded homolog 1 2289234;2289252 BW141_H;BW142_H APPROVED protein-coding ENSG00000112246 HGNC:10882 07049 601665;603128 REVIEWED 1322892 SIPA1L3 signal-induced proliferation-associated 1 like 3 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN hematopoietic progenitor cell differentiation (inferred); positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH 17beta-estradiol; aflatoxin B1; amiodarone 19 19 19 q13.13 35198809 35501239 + 38397525 38699009 + 37906889 38208369 + 1580863;6480464;8554872 12168954;12477932;15592455;15778465;19322201;20360068;20379614;21906983;23182705;23444366;23602568;24255178;9628581 23094 B2RWP0;M0QX89;M0R185;M0R2Q7;M0R2W1;O60292;Q8IUV1 AB011117;ABBA01040650;ABBA01040651;ABBA01040652;ABBA01040653;ABBA01040654;ABBA01040655;ABBA01040656;ABBA01040657;ABBA01040658;ABBA01040659;ABBA01040660;ABBA01040661;ABBA01040662;ABBA01040663;ABBA01040664;ABBA01040665;ABBA01040666;ABBA01040667;AC008395;AC011465;AC011479;AC016582;AC098790;AI560928;AMYH02036056;AMYH02036057;AMYH02036058;AMYH02036059;AMYH02036060;AMYH02036061;AMYH02036062;AMYH02036063;AY168880;BC036863;BC150620;BM193478;CH471126;NM_015073;XM_005258671;XM_005258672;XM_006723112;XR_430194 AAH36863;AAI50621;AAO12531;BAA25471;EAW56758;NP_055888;O60292;XP_005258728;XP_005258729;XP_006723175 Hs.655502 1331558;1338234;1749801;1765073;1771448;2107579;2130982;2146099;2179334;7185331;7187636 D19S1069;D19S220;D19S228;D19S557;RH48216;SHGC-111541;SHGC-148608;SIPA1L3__6837;STS-T56936 SPAL3 OTTHUMP00000081862;SIPA1-like protein 3;SPA-1-like 3;SPA-1-like protein 3;signal-induced proliferation-associated 1-like protein 3 protein-coding ENSG00000105738 HGNC:23801 18755 VALIDATED 1354355 SIRPAP1 signal-regulatory protein alpha pseudogene 1 22 22 22 q12.2 14737958 14740637 + 30938242 30940921 + 30542255 30544934 + 10591208;9847074 23755 ABBA01055300;AC004832;AMYH02038217;NG_002457 AAF19260 PTPNS1L APPROVED pseudo HGNC:9663 INFERRED 7384218 SIRPB3P signal-regulatory protein beta 3, pseudogene 20 20 1645952 1716616 - 1665306 1735970 - 16339510;16339511 100652885 ABBA01053781;AL109809;AMYH02036571 pseudo HGNC:49209 MODEL 1347883 SIRPB1 signal-regulatory protein beta 1 The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 20 20 20 p13 1641380 1664813 - 1545029 1600720 - 1564383 1626548 - 1580863;6480464;8554872 10604985;10940905;11780052;12213963;12415263;12477932;15342556;15489334;16081415;16335952;16339511;16344560;17207965;19034380;19165527;19893026;21890473;22360420;23383108;9062191 10326 H3BQ21;H3BRP9;H3BSK5;H3BTT9;H3BU43;H3BUW0;H9KV29;O00241;Q5TFQ8 ABBA01053772;ABBA01053773;ABBA01053774;ABBA01053775;ABBA01053776;ABBA01053777;ABBA01053778;ABBA01053779;ABBA01053780;ABBA01169430;AK130124;AK289866;AL049634;AL138804;AL592544;AMYH02036567;AMYH02036568;AMYH02036569;AMYH02036570;AMYH02036571;BC025286;BC075835;BC131747;BM010247;BM285386;BP268958;BP295274;BX537992;CH471133;DA331023;DA463753;DA761891;NM_001083910;NM_001135844;NM_006065;XM_005260641;XM_005260643;XM_005260644;XM_006710250;XM_006723535;Y10376 AAH25286;AAH75835;AAI31748;AAI56610;ADQ32572;BAF82555;CAA71404;CAD97951;EAX10620;EAX10621;EAX10622;NP_001077379;NP_001129316;NP_006056;O00241;Q5TFQ8;XP_005260698;XP_005260700;XP_005260701;XP_006710313;XP_006723598 Hs.664861 2107581;5037552 D8S2279;SIRPB1__6838 CD172b;DKFZp686A05192;FLJ26614;SIRP-BETA-1 CD172 antigen-like family member B;OTTHUMP00000029992;OTTHUMP00000029993;OTTHUMP00000029994;signal-regulatory protein beta-1 APPROVED protein-coding ENSG00000101307 HGNC:15928 04866 603889 REVIEWED 1353362 SIRPD signal-regulatory protein delta FOUND IN extracellular region (inferred); INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; ethyl methanesulfonate; methyl methanesulfonate 20 20 20 p13 1611254 1634702 - 1514897 1539489 - 1534251 1558979 - 6480464 11780052;12477932;14702039;15489334;16339511;16344560;21044950 128646 H0Y747;Q5TFQ5;Q9H106 ABBA01053771;ABBA01053772;AK093083;AL049634;AMYH02036567;BC033502;CH471133;DA466740;NM_178460;XM_005260662;XM_006723541;XM_006723542 AAH33502;ABM82223;ABW03378;BAG52650;EAX10623;EAX10624;NP_848555;Q9H106;XP_005260719;XP_006723604;XP_006723605 Hs.729560 1698224 RH102648 PTPNS1L2;dJ576H24.4 OTTHUMP00000029990;OTTHUMP00000029991;SIRP-delta;protein tyrosine phosphatase non-receptor type substrate 1-like 2;protein tyrosine phosphatase, non-receptor type substrate 1-like 2 protein-coding ENSG00000125900 HGNC:16248 17931 VALIDATED 1346963 SIPA1 signal-induced proliferation-associated 1 The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008] 11 11 11 q13 62732306 62745096 + 65405578 65418391 + 65638107 65650920 + 1580863;2312656;6480464;6484113 18431594 10373454;11461903;12059963;12091396;12477932;12590145;15456879;15489334;16563182;17081983;18033671;18492118;19089925;19124506;19738201;19765277;19773279;19825179;19906411;19913121;20628086;21988832;22990111;23182705;23358895;23661532;23771732;24006220;24260471;7799964;8889548;9027487;9183624;9346962;9651531 6494 E9PIB3;F6RY50;Q96FS4 AB005666;ABBA01024108;AF029789;AF052232;AF052233;AF052237;AF052238;AI307277;AK303551;AK308234;AK310068;AMYH02024961;AP001362;BC010492;BC110353;BM677738;CH471076;DN999403;NM_006747;NM_153253;XM_005274189;XR_247210 AAC32547;AAC32559;AAH10492;AAI10354;BAA22197;BAG64575;EAW74421;EAW74422;EAW74423;NP_006738;NP_694985;Q96FS4;XP_005274246 Hs.530477 2109845;2134782 SIPA1_8629;STS-N32829 MGC102688;MGC17037;SPA1;p130 SPA-1;sipa-1 GTPase-activating protein Spa-1;OTTHUMP00000233396;OTTHUMP00000233399;OTTHUMP00000233400;signal-induced proliferation-associated gene 1;signal-induced proliferation-associated protein 1 APPROVED protein-coding ENSG00000213445 HGNC:10885 03713 602180 REVIEWED 9068616 SIRPG-AS1 SIRPG antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 20 20 1611583 1629118 + 1633508 1648473 + 8554872 14702039 101929010 AA861235;ABBA01053780;ABBA01053781;AK093519;AL138804;AMYH02036571;HG511131;HY205132;NR_110090 Hs.570358 ncrna ENSG00000237914 HGNC:51229 VALIDATED 1604807 SIRPG signal-regulatory protein gamma The protein encoded by this gene is a member of the signal-regulatory protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 20 20 20 p13 1673922 1702555 - 1609522 1638425 - 1628876 1657779 - 6480464;8554872 11185750;11780052;12477932;15294972;15383453;15489334;16339511;16344560;16691243;17207965;18524990;19430480;19473566;21890473;24162948;9062191 55423 Q9P1W8 AA446468;AB042624;ABBA01053780;ABBA01053781;AK124224;AK292745;AL109809;AL138804;AMYH02036571;AY748247;AY748248;BC020629;BC064532;CH471133;DA008008;DB046293;NM_001039508;NM_018556;NM_080816;XM_005260749 AAH20629;AAH64532;AAV88530;AAV88531;ADQ32580;BAA95692;BAF85434;EAX10615;EAX10616;EAX10617;EAX10618;NP_001034597;NP_061026;NP_543006;Q9P1W8;XP_005260806 Hs.590883 1681979;2160583;2219692 RH94120;SHGC-56794;SIRPB2__5422 CD172g;FLJ42230;SIRP-B2;SIRPB2;bA77C3.1 CD172 antigen-like family member B;CD172g antigen;OTTHUMP00000029998;OTTHUMP00000029999;OTTHUMP00000030000;OTTHUMP00000185041;SIRP beta 2;SIRP-beta-2;SIRP-gamma;SIRPgamma;signal-regulatory protein beta 2;signal-regulatory protein beta-2 APPROVED protein-coding ENSG00000089012 HGNC:15757 605466 REVIEWED 733053 SIPA1L1 signal-induced proliferation-associated 1 like 1 ENCODES a protein that exhibits ephrin receptor binding (inferred); GTPase activator activity (inferred); INVOLVED IN actin cytoskeleton reorganization (ortholog); activation of Rap GTPase activity (ortholog); ephrin receptor signaling pathway (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN dendritic spine (ortholog); postsynaptic density (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; benzo[a]pyrene 14 14 14 q24.2 52059323 52269351 + 71788108 72207761 + 71512743 71741229 + 1580863;6480464;8554872 11502259;12168954;12421765;12477932;12508121;14702039;15302935;15588942;15778465;16344560;16999984;17081983;18029348;19615732;21076409;21139048;21906983;22017875;22939629;23000965;23251661;23602568;24255178;24277619;9455477;9858596 26037 F5GYF8;G3V4Z3;H0YJY2;O43166 AB007900;ABBA01030792;ABBA01030793;ABBA01030794;ABBA01030795;ABBA01030796;AC004900;AC004968;AC004974;AF090989;AF090990;AK094532;AK122930;AK302650;AMYH02029466;AMYH02029467;AX298147;AX298149;AX298151;AX298152;BC033950;BC146777;CH471061;CR936651;DA330003;JA130602;JA208946;NM_001284245;NM_001284246;NM_001284247;NM_015556;XM_005267514;XM_005267516;XM_005267519;XM_006720109;XM_006720110;XM_006720111;XM_006720112 AAC83179;AAD12543;AAD12544;AAI46778;BAA23712;BAG63889;CAD12684;CAD12685;CAD12686;CAD12687;CAI56789;CCA64007;CCA64575;EAW81058;EAW81059;EAW81060;NP_001271174;NP_001271175;NP_001271176;NP_056371;O43166;XP_005267571;XP_005267573;XP_005267576;XP_006720172;XP_006720173;XP_006720174;XP_006720175 Hs.654657 1645378;1645380;1649315;1653198;1656795;1670869;1672801;1673806;1673987;1685790;1695126;1695586;1740771;1783120;1857927;1858505;2109843;2112134;2119796;2122842;2136128;2136830;2139344;2141226;2147733;2154053;2158005;2159908;2161709;2169804;2174769;2178082;2182609;5017247 A002T06;A006E37;A006F03;A008U05;A009Q05;D14S1212;D14S1355;D14S855;D14S904;G20750;G35394;G35444;G36072;G38095;G38097;G38245;G38247;G38248;G38257;G38332;G38334;G48202;IB3513;NIB343;RH17953;RH69979;RH91755;SGC33553;SHGC-171445;SHGC-68945;SIPA1L1_9450;WI-13394;WI-15058;WI-21876 DKFZp686G1344;E6TP1;FLJ37213;KIAA0440 E6-targeted protein 1;H_DJ1140G11.1;OTTHUMP00000245734;OTTHUMP00000245735;OTTHUMP00000245736;OTTHUMP00000246397;SIPA1-like protein 1;WUGSC:H_DJ1140G11.1;high-risk human papilloma viruses E6 oncoproteins targeted protein 1;signal-induced proliferation-associated 1-like 1;signal-induced proliferation-associated 1-like protein 1;spa-1 like protein p1294 protein-coding ENSG00000197555 HGNC:20284 11559 VALIDATED 1318106 SIRT3 sirtuin 3 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 322773 343832 + 215030 236362 - 215030 236362 - 6480464;8158103;9586042;9586050;9586049;9586047;9586045;9586046;9586040;8554872;9104959 21151613;21901160;22155497;22327056;23139766;23397292;24361842;24471974;24505357 10381378;10873683;11056054;12186850;12374852;12477932;15489334;15676284;15719057;16079181;16169070;16189514;16788062;17059877;17437997;17456799;17715127;17957139;18215119;18680753;18710944;18781224;19209188;19240061;19343720;19367319;19535340;19680556;19714312;20129246;20132432;20159966;20198340;20463968;20661474;20800603;20819778;20877624;20945913;21358671;21397863;21449565;21460842;21566644;21701047;21840382;22155639;22326535;22416140;22585829;22589271;22595756;22609775;22674009;22750084;22770219;23045395;23046812;23075334;23272146;23494737;23665396;23790338;23800187;23839864;23842789;23856293;23868064;23898059;23928404;23956348;24026423;24042441;24121500;24194516;24287180;24324009;24339251;24486017;24491532;24503539;24746213;24877629;24889606;8889548 23410 B7WNN4;E9PIT6;E9PJS6;E9PK80;E9PM52;E9PM75;E9PN58;E9PNA0;E9PR48;Q9NTG7 AA279020;ABBA01011167;AC069287;AC136475;AF015416;AF083108;AI091200;AK074992;AK298572;AK299009;AK299438;AK301558;AK301979;AK308681;AK316175;AL137276;AL535769;AMYH02024127;BC001042;BI755839;BM709066;BM973763;CH471278;CS330056;CS330058;CS417199;CS545590;DR762907;NM_001017524;NM_012239;U73637;XM_005252835 AAD40851;AAH01042;BAH12816;BAH12927;BAH13032;BAH13513;BAH13600;BAH14546;CAB70674;CAL00156;CAL00157;CAL48199;CAN36293;EAW61239;EAW61240;EAW61241;EAW61242;EAW61243;NP_001017524;NP_036371;Q9NTG7;XP_005252892 Hs.716456 1737209;1851947;2108913;2150177;2161358;2163291;2169199;2169201 A001U35;A004P12;D11S3074;G19667;RH15952;RH78086;SIRT3_3197.2;WI-19967 SIR2L3;hSIRT3 NAD-dependent deacetylase sirtuin-3, mitochondrial;NAD-dependent protein deacetylase sirtuin-3, mitochondrial;OTTHUMP00000147616;OTTHUMP00000230525;OTTHUMP00000230526;OTTHUMP00000230527;OTTHUMP00000230528;SIR2-like protein 3;mitochondrial nicotinamide adenine dinucleotide-dependent deacetylase;regulatory protein SIR2 homolog 3;silent mating type information regulation 2, S.cerevisiae, homolog 3;sir2-like 3;sirtuin;sirtuin type 3 APPROVED protein-coding ENSG00000142082 HGNC:14931 06836 604481 VALIDATED 1351920 SIRT5 sirtuin 5 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class III of the sirtuin family. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2010] 6 6 6 p23 14814287 14854285 + 13574506 13615390 + 13574274 13615158 + 6480464;8554872;9104959 21151613 10381378;10873683;11076863;11256614;12477932;14574404;14702039;15489334;15489336;16079181;16381901;16484774;16712791;16827919;17456799;17715127;18029348;18680753;19135889;20800603;20877624;20887790;21139048;21143562;21832049;21908771;22076378;22585829;22767592;23028781;23475622;24140062;24163370;24250222;24816145 23408 Q7Z3A0;Q9NXA8;U3KQT8 ABBA01022128;AF083110;AI969140;AJ420496;AK000355;AK094269;AK294162;AK302467;AL441883;AMYH02013135;BC000126;BC035122;BC035196;BX538030;CA406695;CB155518;CH471087;CS330062;CS330064;CS417203;CS417205;CS545594;CS545596;DC314190;DR003695;NM_001193267;NM_001242827;NM_012241;NM_031244;XM_005248967;XM_005248968;XM_005248969 AAD40853;AAH00126;BAA91107;BAG57485;BAG63757;CAD97975;CAL00159;CAL00160;CAL38292;CAL48201;CAL48202;CAN36295;CAN36296;EAW55332;EAW55333;EAW55334;EAW55335;EAW55336;EAW55337;EAW55338;NP_001180196;NP_001229756;NP_036373;NP_112534;Q9NXA8;XP_005249024;XP_005249025;XP_005249026 Hs.567431;Hs.594133 1655819;1672176;1699012;1785988;2174143;2217976;5014019;5037552 D5S2354;D8S2279;RH103078;RH46758;SHGC-154505;SIRT5_823;WI-14668;WI-14994 FLJ36950;SIR2L5 NAD-dependent deacetylase sirtuin-5;NAD-dependent lysine demalonylase and desuccinylase sirtuin-5, mitochondrial;NAD-dependent protein deacylase sirtuin-5, mitochondrial;NAD-dependent protein deacylase sirtuin-5, mitochondrial {ECO:0000255|HAMAP-Rule:MF_03160};OTTHUMP00000016054;OTTHUMP00000016055;SIR2-like protein 5;SIR2-like protein 5 {ECO:0000255|HAMAP-Rule:MF_03160};SIRT5 {ECO:0000255|HAMAP-Rule:MF_03160};regulatory protein SIR2 homolog 5;regulatory protein SIR2 homolog 5 {ECO:0000255|HAMAP-Rule:MF_03160};silent mating type information regulation 2, S.cerevisiae, homolog 5;sir2-like 5;sirtuin;sirtuin type 5 APPROVED protein-coding ENSG00000124523 HGNC:14933 06838 604483 REVIEWED 733995 SIRT2 sirtuin 2 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010] 19 19 19 q13 36171632 36192939 - 39369195 39390502 - 38878555 38899862 - 6480464;9586024;9586035;9586049;9104959 21151613;22327056;23522375;23658678 10381378;10393250;10873683;10931946;11427894;11483616;11812793;12477932;12620231;12697818;12887892;12963026;14522900;14702039;15126506;15213244;15220471;15274642;15328540;15489334;15719057;16079181;16211212;16247014;16344560;16565078;16648462;16909107;17172643;17353931;17456799;17488717;17516032;17708669;17726514;18193082;18249170;18249187;18332217;18722353;18995842;19282667;19801601;20159555;20237298;20378838;20543840;20562129;20849899;21349544;21511279;21726808;21890473;22014574;22053931;22089141;22166219;22302938;22651940;22735931;22796962;22819792;22833565;22857867;22944623;23000965;23175188;23348706;23358244;23382805;23416275;23460888;23468428;23475622;23712749;23723075;23806683;23900402;23908241;23915912;24139700;24161395;24177535;24183459;24446434;24652283;24769394;24792244;24825348;24939540;24996174;8125298;8619474;9110174 22933 B5MCS1;C9J3U7;C9JR33;C9JZQ0;E7EWX6;F8WBT6;F8WCF4;F8WDM4;F8WF57;Q8IXJ6 AB009274;ABBA01040708;ABBA01040709;AC011455;AF083107;AF095714;AF131800;AF160214;AJ505014;AK025876;AK054642;AK092940;AK094810;AK131390;AK225824;AK290716;AK314492;AMYH02036082;AY030277;BC003012;BC003547;BF346568;BF529906;CH471126;CS072425;CS330052;CS330054;CS417195;CS417197;CS545586;CS545588;DA541045;DA705079;KF032391;NM_001193286;NM_012237;NM_030593;NR_034146;XM_006723111 AAD20046;AAD40850;AAD45971;AAF67015;AAH03012;AAH03547;AAK51133;ABZ92537;AGZ02589;BAF76655;BAF83405;BAG37092;CAD43717;CAI93563;CAL00154;CAL00155;CAL48197;CAL48198;CAN36291;CAN36292;EAW56833;EAW56834;EAW56835;EAW56836;EAW56837;EAW56838;NP_001180215;NP_036369;NP_085096;Q8IXJ6;XP_006723174 Hs.466693 1664236;1734604;1734702;5014063;5015404;5016478;5016781;5017266;5020881;5020946;5020948;5022322;5022450;5109281;5118444 D10S275;D11S2560;D11S3316;D15S1390;D19S613E;D19S697E;D1S1425;G35510;GDB:434012;L17705;L17709;L17971;L18506;SHGC-67307;WIAF-1625 FLJ35621;FLJ37491;SIR2;SIR2L;SIR2L2 NAD-dependent deacetylase sirtuin-2;NAD-dependent protein deacetylase sirtuin-2;OTTHUMP00000197460;OTTHUMP00000197461;OTTHUMP00000197465;SIR2-like protein 2;regulatory protein SIR2 homolog 2;silencing information regulator 2-like;silent information regulator 2;sir2-related protein type 2;sirtuin;sirtuin 2 (silent mating type information regulation 2, homolog) 2 (s. cerevisiae);sirtuin type 2;sirtuin-2 APPROVED protein-coding ENSG00000068903 HGNC:10886 10377 604480 REVIEWED 1320248 SIRPB2 signal-regulatory protein beta 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; disodium selenite 20 20 20 p13 1551602 1568598 - 1455236 1472233 - 1474591 1491587 - 6480464 12213963;14702039;16339511;17178844;23620142 284759 B3KTG0;F2Z2Y9;Q5JXA9;V9GYW8 ABBA01053771;AK095499;AK294440;AK297072;AL109658;AMYH02036566;AY424277;BG539998;BM285394;BQ635335;CH471133;DC313096;DC358609;DN998473;KF510462;NM_001122962;NM_001134836;XM_005260708;XM_005260709 AAR04783;BAG53072;BAG59591;BAH11767;EAX10626;NP_001116434;NP_001128308;Q5JXA9;XP_005260765;XP_005260766 Hs.721685 1754969;2219574 PTPNS1L3__5613;SHGC-141894 PTPN1L;PTPNS1L3;dJ776F14.2 OTTHUMP00000029984;OTTHUMP00000029985;SIRP-beta-2;protein tyrosine phosphatase non-receptor type substrate 1-like 3;protein tyrosine phosphatase non-receptor type substrate protein;protein tyrosine phosphatase, non-receptor type 1-like;protein tyrosine phosphatase, non-receptor type substrate 1-like 3;signal-regulatory protein beta-2 protein-coding ENSG00000196209 HGNC:16247 VALIDATED 1314170 SIRT7 sirtuin 7 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008] 17 17 17 q25 76473883 76480126 - 79869815 79876058 - 81911939 81918182 - 1580863;6480464;9104959 21151613 10873683;11953824;12454780;12477932;14702039;15489334;16079181;16169070;16525639;16618798;17003781;19174463;20375098;21832049;22147730;22586326;22722849;23079745;23680022;23750001;24113281;24207024;24210820;24250222;24703702;9776767 51547 I3L2A4;I3L480;Q9NRC8 ABBA01019653;AC145207;AF233395;AK002027;AK094326;AK131437;AK131484;AK290265;AL137626;AMYH02034144;BC017305;BC101791;BC101793;BQ890203;CD579273;CH471099;CS330068;CS417209;CS545600;KF456336;NM_016538;XM_005256376;XM_006722283;XM_006722284;XR_430032 AAF43431;AAH17305;AAI01792;AAI01794;ABM83280;ABM86487;BAA92044;BAF82954;BAG52860;CAB70848;CAL00162;CAL48204;CAN36298;EAW89713;NP_057622;Q9NRC8;XP_005256433;XP_006722346;XP_006722347 Hs.514636 1796770;2136473;5037552 D8S2279;RH65676;SIRT7_1731 MGC126840;MGC126842;SIR2L7 NAD-dependent deacetylase sirtuin-7;NAD-dependent protein deacetylase sirtuin-7;SIR2-like protein 7;regulatory protein SIR2 homolog 7;silent mating type information regulation 2, S.cerevisiae, homolog 7;sir2-related protein type 7;sirtuin;sirtuin type 7 APPROVED protein-coding ENSG00000187531 HGNC:14935 12094 606212 REVIEWED 1601761 SIT1 signaling threshold regulating transmembrane adaptor 1 ENCODES a protein that exhibits kinase binding; INVOLVED IN regulation of T cell activation; FOUND IN extracellular vesicular exosome; plasma membrane; INTERACTS WITH atrazine; benzo[a]pyrene; copper(2+) sulfate 9 9 9 p13-p12 35582849 35584501 - 35649295 35650947 - 35649298 35650950 - 6480464 10209036;11390434;11433379;11491537;12477932;15144186;15164053;15489334;15570572;15592455;16094384;16160011;18029348;19204726;21957439;22505724;23648065;24250222;7566098 27240 Q9Y3P8 AA310964;AA746595;ABBA01064988;ABBA01064989;AJ010059;AJ271888;AK314758;AL357874;AMYH02019463;BC102029;BC104491;BC107484;BM919490;CH471071;JQ924063;NM_014450 AAI02030;AAI04492;AAI07485;AFK32776;BAG37296;CAB41504;CAC81313;EAW58370;NP_055265;Q9Y3P8 Hs.88012 2107583;5493621 SIT__6839;UniSTS:489845 MGC125908;MGC125909;MGC125910;RP11-331F9.5;SIT;SIT-R OTTHUMP00000021333;SHP-2 interacting transmembrane adaptor protein;SHP2 interacting transmembrane adaptor;SHP2-interacting transmembrane adapter protein;SHP2-interacting transmembrane adaptor protein;gp30/40;signaling threshold-regulating transmembrane adapter 1;suppression inducing transmembrane adaptor 1;suppression-inducing transmembrane adapter 1 protein-coding ENSG00000137078 HGNC:17710 05394 604964 VALIDATED 1603317 SIVA1 SIVA1, apoptosis-inducing factor This gene encodes a protein with an important role in the apoptotic (programmed cell death) pathway induced by the CD27 antigen, a member of the tumor necrosis factor receptor (TFNR) superfamily. The CD27 antigen cytoplasmic tail binds to the N-terminus of this protein. Two alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Jul 2008] 14 14 14 q32.33 85274542 85281070 + 105219470 105225996 + 104753133 104759659 + 6480464 10756043;11278261;11601913;11920585;12011449;12477932;12478477;14739602;15034012;15105421;15489334;15958577;16169070;16491128;16683188;17207965;17348035;17653867;17965021;18330885;18849585;19293149;19392652;19460752;19584092;19590512;19953087;20727854;20934406;21048035;21768358;21832049;21890473;21906983;21955384;21963094;21988832;22343716;22505724;23462994;24250222;24958773;8125298;9177220 10572 G3V3U1;G3V439;H0YJN1;O15304 ABBA01002986;AF033111;AF401214;AK223332;AK300415;AK316550;AL583722;AMYH02029951;BC034562;BK000018;BU195069;CH471061;CK001877;NG_029449;NM_006427;NM_021709 AAD50057;AAH34562;AAL02171;ADQ32443;BAD97052;BAG62144;BAG65628;DAA01049;EAW81877;EAW81878;EAW81879;EAW81880;NP_006418;NP_068355;O15304 Hs.112058 CD27BP;SIVA;Siva-1;Siva-2 CD27-binding (Siva) protein;CD27-binding protein;OTTHUMP00000244488;OTTHUMP00000244489;OTTHUMP00000244490;OTTHUMP00000244492;apoptosis regulatory protein Siva APPROVED protein-coding ENSG00000184990 HGNC:17712 16124 605567 REVIEWED 1321303 SIRT4 sirtuin 4 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008] 12 12 12 q 120373255 120384162 + 120730002 120751045 + 120291940 120313242 + 6480464;9586052;8554872;9104959 20651844;21151613 10381378;10873683;12477932;15122253;15342556;15489334;16079181;16541075;16959573;17456799;17715127;19209188;21556116;22770219;23044393;23045395;23663782;24250222;24296486;24368766;9847074 23409 F5H4X9;Q9Y6E7 ABBA01020107;ABBA01020108;AC003982;AC004263;AF083109;AMYH02027367;AMYH02027368;BC034736;BC109319;BC109320;BP232525;CH471054;CS330060;CS417201;CS545592;NM_012240;XM_005253865;XM_006719308;XM_006719309;XM_006719310;XM_006719311;XM_006719312 AAB95634;AAD40852;AAI09320;AAI09321;CAL00158;CAL48200;CAN36294;EAW98182;EAW98183;NP_036372;Q9Y6E7;XP_005253922;XP_006719371;XP_006719372;XP_006719373;XP_006719374;XP_006719375 Hs.50861 1685013 RH46443 MGC130046;MGC130047;MGC57437;SIR2L4 NAD-dependent ADP-ribosyltransferase sirtuin-4;NAD-dependent protein deacetylase sirtuin-4;OTTHUMP00000239957;SIR2-like protein 4;regulatory protein SIR2 homolog 4;sir2-like 4;sirtuin;sirtuin type 4 APPROVED protein-coding ENSG00000089163 HGNC:14932 06837 604482 REVIEWED 1313110 SIRT6 sirtuin 6 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 19 19 19 p13.3 4113565 4122051 - 4174106 4182596 - 4174109 4182599 - 6480464;9586060;9586062;9586064;6484527;9104959 21151613;21373642;22335191;23899523;24135502 10873683;12477932;14702039;15057824;15489334;15719057;16079181;16169070;16189514;17131381;17456799;18242175;18337721;18388907;19135889;19625767;20157594;20375098;20829486;21224216;21349544;21362626;21502801;21680843;21847107;21890473;21900206;21900744;21906983;21981042;22087257;22505724;22700961;22743824;22753495;22770219;22792191;22939629;23041974;23075334;23086953;23132960;23136298;23201774;23217706;23514751;23526469;23552949;23653361;23860128;23928404;24043303;24052263;24163442;24171769;24250222;24366394;24367027;24438746;24607900;24816145;25009184;25074979;8125298 51548 B4DDV3;M0QXA0;M0QZ09;M0R0B2;M0R1F6;M0R1N9;Q8N6T7 ABBA01056083;ABBA01056084;AC005620;AC006930;AC016586;AF233396;AK074810;AK225567;AK293348;AK299420;AK301247;AK315048;AMYH02035277;BC004218;BC005026;BC028220;CH471139;CR457200;CS330066;NM_001193285;NM_016539;XM_005259574;XM_005259575;XM_005259577;XM_006722767 AAC34468;AAD15478;AAF43432;AAH04218;AAH05026;AAH28220;ABM87357;ABW03864;BAC11222;BAG37527;BAG56864;BAG62814;BAH13027;CAG33481;CAL00161;EAW69251;EAW69252;EAW69253;EAW69254;EAW69255;EAW69256;EAW69257;EAW69258;EAW69259;NP_001180214;NP_057623;Q8N6T7;XP_005259631;XP_005259632;XP_005259634;XP_006722830 Hs.423756 1675646;1796768 RH93156;SIRT6_244 SIR2L6 NAD-dependent deacetylase sirtuin-6;NAD-dependent protein deacetylase sirtuin-6;SIR2-like protein 6;regulatory protein SIR2 homolog 6;sir2-related protein type 6;sirtuin;sirtuin type 6 APPROVED protein-coding ENSG00000077463 HGNC:14934 12093 606211 REVIEWED 1603681 SIK3 SIK family kinase 3 ENCODES a protein that exhibits ATP binding; magnesium ion binding; protein serine/threonine kinase activity; INVOLVED IN protein phosphorylation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 3-methylcholanthrene; cisplatin; copper(2+) sulfate 11 11 11 q23.3 113871923 114126759 - 116714118 116969131 - 116843402 117098415 - 6480464;8554872 10231032;12168954;12477932;14702039;14976552;15134808;15334068;15489334;16306228;16968750;18193046;18266979;18348280;18729074;19322201;20056645;20379614;20936779;21149283;21399663;21906983;21963094;22306654;22437554;22588126;22589738;23393134;23505323;24061540;8889548;8889549 23387 A1A5A9;H0Y494;H0Y4E8;H7C038;H7C042;H7C3X8;J3KPC8;Q9Y2K2 AA044062;AB209327;ABBA01039742;ABBA01039743;ABBA01039744;ABBA01039745;ABBA01039746;AI369377;AI479678;AI765994;AI866497;AK022302;AK122838;AMYH02025623;AMYH02025624;AMYH02025625;AP000936;AP003070;AP006216;AY598338;BC035583;BC063887;BC086858;BC121188;BC128510;BC128511;BF055085;BK008396;BM127054;BM682365;BQ018415;BQ219303;CH471065;NM_001281748;NM_001281749;NM_025164;W90813;XM_005271481;XM_005271482;XM_005271484;XM_005271485;XM_005271486 AAH35583;AAH63887;AAH86858;AAI21189;AAI28511;AAI28512;AAT06749;BAB14006;BAD92564;BAG53754;DAA64471;EAW67278;EAW67279;NP_001268677;NP_001268678;NP_079440;Q9Y2K2;XP_005271538;XP_005271539;XP_005271541;XP_005271542;XP_005271543 Hs.167451 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855;stSG601856;stSG601857;stSG601858;stSG601859;stSG601860;stSG601861;stSG601862;stSG601863;stSG601864;stSG601865;stSG601866;stSG601867;stSG601868;stSG601869;stSG601870;stSG601871;stSG601872;stSG601873;stSG601874;stSG601875;stSG601876;stSG601877;stSG601878;stSG601879;stSG601880;stSG601881;stSG601882;stSG601883;stSG601884;stSG601885;stSG601886;stSG601887;stSG601888;stSG601889;stSG601890;stSG601891;stSG601892;stSG601893;stSG601894;stSG601895;stSG601897;stSG601900;stSG601901;stSG601902;stSG601903;stSG601904;stSG601905;stSG601906;stSG601907;stSG601908;stSG601909;stSG601911;stSG601912;stSG601913;stSG601914;stSG601915;stSG601916;stSG601917;stSG601918;stSG601919;stSG601920;stSG601921;stSG601922;stSG601923;stSG601924;stSG601925;stSG601926;stSG601927;stSG601928;stSG601929;stSG601930;stSG601931;stSG601932;stSG601933;stSG601934;stSG601935;stSG601936;stSG601937;stSG601938;stSG601939;stSG601940;stSG601941;stSG601943;stSG601944;stSG601945;stSG601946;stSG601947;stSG601948;stSG601949;stSG601950;stSG601951;stSG601952;stSG601953;stSG601954;stSG601955;stSG601956;stSG601959;stSG601960;stSG601961;stSG601962;stSG601963;stSG601964;stSG601965;stSG601966;stSG601967;stSG601968;stSG601969;stSG601970;stSG601971;stSG601974;stSG601975;stSG601976;stSG601977;stSG601978;stSG601979;stSG601980;stSG601981;stSG601982;stSG601983;stSG601984;stSG601985;stSG601986;stSG601987;stSG601988;stSG601989;stSG601990;stSG601991;stSG601992;stSG601993;stSG601994;stSG601995;stSG601996;stSG601997;stSG601998;stSG601999;stSG602001;stSG602002;stSG602003;stSG602004;stSG602005;stSG602006;stSG602007;stSG602008;stSG602009;stSG602010;stSG602011 FLJ12240;KIAA0999;L19;QSK;SIK-3 OTTHUMP00000069593;OTTHUMP00000069594;OTTHUMP00000198139;salt-inducible kinase 3;serine/threonine-protein kinase QSK;serine/threonine-protein kinase SIK3 APPROVED protein-coding ENSG00000160584 HGNC:29165 11121 614776 VALIDATED 736759 SIRPA signal-regulatory protein alpha The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p13 1938791 1984521 + 1874763 1920540 + 1894117 1939894 + 1580863;6480464 10098842;10469599;10572074;10585853;10660565;10660620;10842184;10962556;11509594;11780052;11792697;11907074;12477932;12483539;12805067;14662855;14729615;15359629;15374953;15489334;15842360;15888547;16189514;16291597;16335952;16339511;16344560;16691243;16697668;16825188;17070842;17098740;17142753;17178844;17360380;17500595;17632076;17954568;18051954;18647419;18820737;18855618;18954403;19056867;19165527;19299420;19628875;19748659;19820697;19874234;20207740;20299253;20473329;20643654;20705613;20826546;20826801;21169408;21223598;21225905;21369691;21706016;21788504;21788509;21890473;21906983;22139419;22409853;22451913;22490440;22511785;22738830;22747997;22815949;23000965;23271705;23314616;23320069;23504854;23669395;24026300;24101669;24124411;24143245;24162948;24511121;24550402;8525433;8810330;8943344;9062191;9070220;9271230;9485180;9632768;9712903;9872987 140885 P78324 AB023430;ABBA01053783;ABBA01053784;AK290776;AK298243;AK312521;AL034562;AL117335;AMYH02036574;BC026692;BC033092;BC038510;BC075849;CH471133;D86043;DA471662;DN989886;NM_001040022;NM_001040023;NM_080792;U06681;U06701;XM_005260669;XM_005260670;XM_006723545;XM_006723546;XM_006723547;Y10375;Y11047 AAH26692;AAH33092;AAH38510;AAH75849;ABM82577;BAA12974;BAA87929;BAF83465;BAG35420;BAG60509;CAA71403;CAA71944;EAX10606;EAX10607;EAX10608;EAX10609;EAX10610;EAX10611;NP_001035111;NP_001035112;NP_542970;P78324;XP_005260726;XP_005260727;XP_006723608;XP_006723609;XP_006723610 Hs.581021 1677020;1771430;1798048;2111204;2124348;2133780;2135232;2141127;2155476;2175578;2181049;2184943 BCD2069;D20S1066;D20S203E;D20S793;G18068;PTPNS1_1575;RH11752;RH68309;SHGC-31938;STS-D29515;STS-M78966;WI-14028 BIT;CD172A;MFR;MYD-1;P84;PTPNS1;SHPS-1;SHPS1;SIRP CD172 antigen-like family member A;OTTHUMP00000030001;OTTHUMP00000159968;OTTHUMP00000159969;SIRP-ALPHA-1;SIRPalpha;SIRPalpha2;brain-immunoglobulin-like molecule with tyrosine-based activation motifs;inhibitory receptor SHPS-1;macrophage fusion receptor;myd-1 antigen;protein tyrosine phosphatase, non-receptor type substrate 1;tyrosine phosphatase SHP substrate 1;tyrosine-protein phosphatase non-receptor type substrate 1 APPROVED protein-coding ENSG00000198053 HGNC:9662 03912 602461 REVIEWED 6482993 SIX3-AS1 SIX3 antisense RNA 1 2 2 2 p21 45005965 45007689 - 45167293 45169017 - 44940154 44941878 - 8889548 100506108 ABBA01075118;AC012354;AMYH02003713;BM663835;BM690547;NR_103785;NR_103786 1684016;2189527 RH143896;RH94877 APPROVED ncrna ENSG00000236502 HGNC:40532 VALIDATED 1321897 SIX2 SIX homeobox 2 This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008] 2 2 2 p21 45070945 45075163 - 45232324 45236580 - 45005185 45009441 - 1580863;6480464;8554872 10677303;10773454;11734542;12215533;12441302;12477932;18305125;18989625;19055944;20542577;21832049;21909109;22703800;8814301 10736 Q8TBA2;Q9NPC8 ABBA01075121;AC012354;AC093702;AF136939;AF136940;AF323498;AF332196;AF332197;AF332198;AI299144;AI697804;AMYH02003713;BC024033;BT020100;CH471053;NG_009360;NM_016932;XM_005264100 AAF69031;AAF69032;AAH24033;AAK06773;AAK16581;AAK16582;AAK16583;AAV38903;EAX00265;NP_058628;Q9NPC8;XP_005264157 Hs.101937 1798156 SIX2_2180 OTTHUMP00000201649;homeobox protein SIX2;sine oculis homeobox homolog 2 APPROVED protein-coding ENSG00000170577 HGNC:10888 05408 604994 REVIEWED 1315508 SIX4 SIX homeobox 4 This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010] 14 14 14 q23 41226507 41241110 - 61176256 61191039 - 60709538 60724321 - 1580863;6480464 10490620;10512683;10640827;10906137;12215533;12441302;12477932;15489334;19471022;21693764;22939629;8628654 51804 G3V2N2;Q9UIU6 AA424469;AB024687;ABBA01018289;ABBA01018290;AF032107;AK308528;AK309358;AL132777;AMYH02029300;BC098135;BC098282;BC099722;BC101934;CH471061;NG_021182;NM_017420;XM_005267759 AAF04403;AAH98135;AAH98282;AAH99722;AAI01935;ABZ92148;ABZ92373;BAA86223;EAW80786;NP_059116;Q9UIU6;XP_005267816 Hs.690393;Hs.97849 1677720;1699528;5014051;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2278;D8S2279;L18426;RH103360;RH93867 AREC3;MGC119450;MGC119452;MGC119453 OTTHUMP00000028070;homeobox protein SIX4;sine oculis homeobox homolog 4 APPROVED protein-coding ENSG00000100625 HGNC:10890 06960 606342 REVIEWED 1321431 SIX6 SIX homeobox 6 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008] 14 14 14 q23.1 41026094 41028681 + 60975938 60978525 + 60509220 60511807 + 1580863;6480464;7240710;8554872;8699517 10381575;10512683;11493467;12441302;12477932;15266624;15505031;18029348;18293925;18666230;20057906;20211142;20301477;20301552;20881960;22419738;22505724;22570617;23396134 4990 O95475;Q6P051 AB041399;ABBA01018282;AF031648;AF141651;AJ011785;AL049874;AMYH02029295;BC065831;BC069413;BC087852;CH471061;NG_008203;NM_007374 AAD49844;AAF04402;AAH65831;AAH69413;AAH87852;ABZ92173;BAA94484;CAA09773;EAW80782;NP_031400;O95475 Hs.194756 1679846;1727061 G62930;RH106539 MCOPCT2;OPTX2;Six9 OTTHUMP00000179043;homeobox protein SIX6;homeodomain protein OPTX2;optic homeobox 2;sine oculis homeobox homolog 6 APPROVED protein-coding HGNC:10892 07557 212550;606326 REVIEWED 1346541 SJS1 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) ASSOCIATED WITH Dyssegmental dysplasia (inferred); Osteochondrodysplasias (inferred) 7240710 8541852;9279765 347680 HGNC:10893 224410;255800 731648 SIX1 SIX homeobox 1 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008] 14 14 14 q23.1 41161682 41166417 - 61111417 61116155 - 60644699 60649437 - 1580863;6480464;7240710;8554879;8554898;8554873;8554876;8554880;8554882;8554872;8699517 12834866;15141091;17637804;18330911;19389353;24528972 10777717;10801845;10906137;11734542;12057921;12215533;12441302;12477932;12843324;12874121;14628042;15123840;15226428;15489334;15492887;16189514;16652090;16670092;17008870;17130831;17519359;18029348;18381426;18398830;18666230;19008232;19101580;19331807;19497856;19726883;19726885;19901965;20013809;20301554;20301607;20395239;20548946;20603620;21280147;21370601;21427129;21700001;21706047;21874375;21988832;22180226;22190591;22286765;22286770;22419738;22447252;22466647;22570617;22840486;23435380;23527134;24114014;24184484;24263054;24574515;24593661;24613848;7720577;8617500;9770533 6495 H0YK85;Q15475 ABBA01018285;AF323497;AL049874;AMYH02029297;BC008874;BT007083;CH471061;CS025630;NG_008231;NM_005982;X91868 AAH08874;AAK06772;AAP35746;CAA62974;CAI61692;EAW80784;EAW80785;NP_005973;Q15475 Hs.633506 1335355;1647504;1703272;2153803;7187881 D14S290;RH106538;RH70939;RH78873 BOS3;DFNA23;TIP39 OTTHUMP00000179042;homeobox protein SIX1;sine oculis homeobox homolog 1 APPROVED protein-coding HGNC:10887 03125 601205;605192;608389 REVIEWED 1321886 SKA1 spindle and kinetochore associated complex subunit 1 ENCODES a protein that exhibits microtubule binding; INVOLVED IN cell division; chromosome segregation; mitotic nuclear division; ASSOCIATED WITH Melanoma (inferred); FOUND IN condensed chromosome outer kinetochore; microtubule cytoskeleton; spindle microtubule; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 18 18 18 q21.1 44757915 44777060 + 47901392 47920538 + 50375022 50394168 + 737633;6480464;8554872 12477932 15146197;15489334;15561729;16189514;17093495;18029348;19156129;19289083;19322201;22371557;22483620;23085020;24010405;24250222;24816145 220134 K7EP61;K7EPW0;Q96BD8 ABBA01018670;AC013759;AC105227;AK303464;AK313968;AMYH02034703;BC005972;BC015606;BC015706;BG493245;BM470268;BQ069178;BU659790;BX956145;CH471096;CN403719;NM_001039535;NM_145060;XR_243848;XR_254237 AAH15706;BAG36683;BAG64506;EAW62971;EAW62972;EAW62973;NP_001034624;NP_659497;Q96BD8 Hs.134726 1856958;5016478;5022578;5022651;5037552 D11S2921;D18S1311;D1S1423;D8S2279;GDB:434012 C18orf24;MGC10200 OTTHUMP00000163540;spindle and KT (kinetochore) associated 1;spindle and kinetochore-associated protein 1 protein-coding ENSG00000154839 HGNC:28109 12689 VALIDATED 1316254 SKA3 spindle and kinetochore associated complex subunit 3 This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 13 13 13 q12.11 2789717 2812399 - 21727734 21750741 - 21153595 21176602 - 6480464 12477932;14702039;15057823;15144186;15489334;15592455;16565220;17207965;19156129;19289083;19360002;19387489;19458608;19471022;19549680;19646878;21139048;21832049;21906983;22371557;22483620;22939629;22990118;24816145 221150 F5GWG1;F5H8H7;Q8IX90 ABBA01068601;AF361358;AK090584;AK307976;AK314864;AL158032;AMYH02027657;BC013418;BC048988;BI460315;CH471075;NM_001166017;NM_145061;XM_005266288 AAH13418;AAH48988;AAO13796;ADQ32474;BAC03484;BAG37379;EAX08293;EAX08294;EAX08295;NP_001159489;NP_659498;Q8IX90;XP_005266345 Hs.88523 1691292;2149321;7183240 RH93582;STS-T26585 C13orf3;MGC4832;RAMA1 OTTHUMP00000018108;OTTHUMP00000176878;OTTHUMP00000176879;spindle and kinetochore-associated protein 3 APPROVED protein-coding ENSG00000165480 HGNC:20262 10706 REVIEWED 1318374 SIRT1 sirtuin 1 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 10 10 10 q21.3 62919307 62953016 + 69644427 69678147 + 67884669 67918390 + 1580423;2316155;6480464;6484113;9585997;9585998;9586020;9497542;9585759;9585751;9585758;2316169;9585770;9585747;9495930;7240568;9585743;9585746;9495933;9586004;9495931;9495934;9585663;9497541;9586064;2293330;9585664;9585760;9586021;9586012;9586016;8554872;9495924;9104959;9585769;9585773;9585762 15486319;17322642;17498258;17970622;18046409;18192848;18538940;19142216;19450511;19549853;19996381;20033348;20089851;21151613;21514307;21540183;21554952;21810449;21890195;22113495;22179316;22179968;22324445;22902550;23038275;23224247;23600725;23644113;24135502;24416161;24467772;24557422;24773342;25004063 10381378;10873683;11230166;11672522;11672523;12006491;12297502;12413881;12477932;12535671;12930829;12939617;14702039;14976264;14980222;15126506;15152190;15164054;15175761;15205477;15302935;15469825;15489334;15632193;15639232;15640142;15684044;15692560;15716268;15719057;15744310;15749705;15780941;16079181;16154098;16166628;16183991;16207712;16257164;16269335;16288004;16328012;16344560;16354677;16385451;16628003;16751189;16892051;16923962;16959573;16964243;16998474;16998810;17041012;17081983;17098745;17099246;17112576;17172643;17180656;17213307;17283066;17317627;17334224;17373700;17456799;17487425;17505061;17516504;17581637;17601350;17612497;17624472;17638871;17680780;17785417;17806102;17895433;17901049;17916362;17934453;17936707;17937892;17964266;17996922;18004385;18029348;18174544;18184747;18193082;18203716;18230337;18235501;18235502;18296641;18329615;18342601;18344999;18414679;18438697;18482975;18485871;18485895;18556572;18563176;18573234;18636124;18660489;18662546;18662547;18681908;18687677;18689793;18704159;18723829;18724249;18755897;18774777;18800364;18820948;18821472;18823944;18829436;18829956;18834855;18835033;18838864;18850005;18922603;18957417;18977241;19008647;19014491;19017485;19047049;19060927;19071085;19075016;19104446;19132007;19149601;19166820;19167483;19188449;19218236;19220062;19229036;19236849;19244234;19267881;19285077;19286634;19289152;19322201;19343720;19356714;19364925;19376817;19377286;19404850;19430421;19433578;19478080;19491102;19498162;19509139;19553684;19555662;19568959;19578370;19581416;19615732;19643082;19649206;19664641;19680556;19690166;19713122;19714620;19716821;19720090;19741164;19786632;19819989;19883617;19887452;19895790;19923004;19934257;19934264;19995796;19996091;20027304;20041875;20042607;20060806;20068143;20071779;20100829;20102704;20103737;20107110;20131294;20157519;20160399;20167603;20203304;20217115;20225204;20335544;20360068;20375098;20379614;20412117;20421294;20426787;20431927;20439735;20448046;20451257;20463039;20479254;20484414;20488443;20493163;20503258;20506278;20555380;20595232;20617556;20620956;20627091;20631301;20633545;20668205;20668706;20670893;20689156;20693263;20702418;20733005;20803525;20812964;20813124;20817729;20819794;20844277;20869593;20941378;20955178;20956937;20966076;20972425;20977650;20978007;21030595;21056897;21067862;21074897;21098725;21108727;21118843;21130087;21139048;21144831;21149449;21149730;21163946;21176092;21212262;21241768;21245135;21245319;21277951;21289058;21329659;21331741;21337390;21345792;21349544;21390332;21414717;21454709;21471201;21474819;21501079;21502801;21502975;21504832;21505241;21527554;21533107;21543634;21555002;21556116;21567102;21596753;21604001;21636977;21697093;21698133;21700104;21701047;21703114;21713995;21719763;21720722;21745208;21746786;21760635;21775285;21778425;21789216;21807113;21813271;21832856;21852339;21865267;21871827;21882241;21890473;21906983;21915620;21920899;21947282;21956116;21963094;21968188;21972126;21987377;22000456;22013015;22017869;22038097;22050448;22073865;22094255;22094256;22121772;22124156;22133824;22137654;22146883;22149272;22152608;22157007;22157016;22159506;22169038;22178470;22190034;22190494;22197555;22198152;22200427;22207735;22219708;22228742;22230810;22245592;22249256;22266962;22272724;22302044;22306819;22308024;22312127;22322739;22328728;22330808;22333659;22340598;22355666;22363646;22364258;22370592;22378745;22385246;22389628;22406815;22410779;22446626;22448750;22465953;22479397;22493485;22510409;22537175;22542455;22552445;22553202;22554968;22564731;22584570;22586264;22590959;22613205;22623155;22628222;22640743;22661383;22674476;22683003;22683888;22689577;22696478;22700961;22703651;22728651;22732402;22735644;22740055;22773876;22780949;22789853;22796962;22807441;22824213;22833338;22836009;22863883;22867969;22885181;22893703;22902626;22934845;22935421;22939629;22980663;22986535;22986747;22990118;22990594;22995302;23024800;23045412;23050959;23056314;23070058;23075334;23075766;23079621;23103739;23133645;23135526;23137540;23143889;23153509;23169992;23178529;23209300;23224434;23229445;23238746;23247197;23247634;23248098;23255128;23257246;23262029;23267107;23276927;23305113;23332867;23340254;23349863;23354305;23357110;23361587;23363613;23365135;23370328;23382074;23382833;23390957;23394938;23395904;23417673;23449222;23450480;23453030;23473037;23474493;23475622;23483263;23505545;23542177;23547809;23548308;23561972;23583951;23602568;23612972;23613875;23636469;23661372;23673452;23702379;23704280;23725046;23728341;23754392;23760629;23768087;23770291;23793837;23797802;23800577;23814050;23827175;23855981;23868084;23873758;23876548;23877372;23892437;23897426;23900402;23922917;23928404;23933590;23950036;23952905;23960241;23977047;23993977;24018803;24019980;24035280;24039251;24064760;24088390;24100623;24107295;24112038;24126058;24127549;24141423;24147777;24184155;24184811;24211209;24211575;24218438;24223900;24228097;24247792;24258275;24270983;24297698;24335313;24378473;24383118;24397908;24416313;24423936;24434080;24451382;24473773;24484175;24486147;24507186;24518759;24652283;24672028;24681097;24702436;24726431;24778252;24816145;24855208;24875419;24969755 23411 A8K128;B0QZ35;E9PC49;Q96EB6 AA452304;ABBA01019551;ABBA01019552;ABBA01019553;AF083106;AF235040;AK027686;AK074805;AK289743;AL133551;AL136741;AMYH02023245;BC012499;BX648554;CH471083;CQ783694;CS330050;CS417193;CS545584;DB162635;DQ278604;GM718527;JQ768366;KF511101;NM_001142498;NM_012238;XM_005269663;XM_006717737 AAD40849;AAG38486;AAH12499;ABB72675;AFI98394;BAF82432;BAG51365;BAG52006;CAF86815;CAL00153;CAL48196;CAN36290;CAV28860;EAW54258;EAW54259;NP_001135970;NP_036370;Q96EB6;XP_005269720;XP_006717800 Hs.369779 1796766;1849721;2118880 RH66167;SIRT1_1810;STS-H98832 SIR2L1;hSIR2;hSIRT1 NAD-dependent deacetylase sirtuin-1;NAD-dependent protein deacetylase sirtuin-1;OTTHUMP00000019691;OTTHUMP00000198111;OTTHUMP00000198112;SIR2-like protein 1;SIR2alpha;regulatory protein SIR2 homolog 1;sir2-like 1;sirtuin;sirtuin type 1 APPROVED protein-coding ENSG00000096717 HGNC:14929 08381 604479 REVIEWED 1354438 SKAP1 src kinase associated phosphoprotein 1 This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 42665165 42961971 - 46210802 46507596 - 48133440 48430234 - 1580863;6480464 10229084;10358754;10856234;11909961;12171928;12477932;12652296;15489334;15849195;15939789;16461356;16980616;17658605;18029348;19667759;19798671;20346707;20379614;20852632;21652578;21669874;21832049;22949513;23535730;24368808;9195899;9232446;9671755;9748251;9837776 8631 J3KS83;J3KSD4;J3QKX8;J3QRG3;J3QS38;Q86WV1;V9HW03 ABBA01041159;ABBA01041160;ABBA01041161;ABBA01041162;ABBA01041163;ABBA01041164;ABBA01041165;ABBA01041166;ABBA01041167;AC006468;AC027152;AC036222;AC090627;AK290818;AMYH02033537;AMYH02033538;AMYH02033539;BC039040;BC047870;CH471109;DR007155;EU668346;KC877667;NM_001075099;NM_003726;XM_005257755;XM_005257756;XM_005257757;Y11215 AAH47870;ACF94499;BAF83507;CAA72101;EAW94747;EAW94748;EAW94749;EAW94750;EAW94751;NP_001068567;NP_003717;Q86WV1;XP_005257812;XP_005257813;XP_005257814 Hs.316931 1335558;1336107;1650782;1704696;1733318;1752999;1780000;2114168;2114170;2190635 A005N37;D17S1150;D17S1349E;D17S958;D8S11022;G20361;RH12627;SHGC-154250;SHGC-68727;SHGC-79003 HEL-S-81p;SCAP1;SKAP-55;SKAP55;pp55 epididymis secretory sperm binding protein Li 81p;src family associated phosphoprotein 1;src family-associated phosphoprotein 1;src kinase-associated phosphoprotein 1;src kinase-associated phosphoprotein of 55 kDa APPROVED protein-coding ENSG00000141293 HGNC:15605 05396 604969 REVIEWED 1312832 SIX5 SIX homeobox 5 The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009] 19 19 19 q13.32 43074163 43078617 - 46268043 46272497 - 45764785 45769239 - 1580863;6480464;7240710;8554872;8699517 10490620;10756185;10823141;11748221;11978764;12477932;12500905;14702039;15489334;16713569;17357085;18029348;19851296;20198315;20301554;21280147;22447252;22939629;8595416;9241282;9817928;9949207 147912 H0YLF6;H0YLK1;Q8N196 ABBA01040951;ABBA01040952;AC074212;AK074826;AL540911;AMYH02036208;BC033204;BC084563;BU859227;CH471126;NG_012745;NM_175875;X84813 AAH33204;AAI56209;AAI56984;EAW57379;NP_787071;Q8N196 Hs.43314 1729720;1730748;1741875;1741911;1745933;1791340;2130939;2132053;2157112 D19S201;D19S261;G15898;G64289;GDB:186209;GDB:186796;PMC104374P1;RH11440;STS-N23083 BOR2;DMAHP DM locus-associated homeodomain protein;dystrophia myotonica-associated homeodomain protein;homeobox protein SIX5;sine oculis homeobox homolog 5 APPROVED protein-coding ENSG00000177045 HGNC:10891 09024 600963;610896 REVIEWED 1345057 SKAP2 src kinase associated phosphoprotein 2 The protein encoded by this gene belongs to the src family kinases. This protein is similar to the src kinase associated phosphoprotein 1. It is an adaptor protein that is thought to play an essential role in the src signaling pathway in various cells. It inhibits PTK2B/RAFTK activity and regulates alpha-synuclein phosphorylation. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 26695659 26893221 - 26697397 27034862 - 26657778 26864722 - 1580863;6480464;8554872 10469599;10527689;10942756;11063873;11301322;11390434;12477932;12690205;12853948;12893833;15166227;15489334;15761153;17081983;17952125;19380743;19430480;19807924;19913121;20378605;20628086;21719704;21832049;21906983;22745667;23128233;23161539;8125298;9671755;9755858;9837776 8935 B7Z5N4;B7Z5R3;C9JQ17;O75563 AB014486;ABBA01056751;ABBA01056752;ABBA01056753;AC003999;AC011299;AF051323;AF072166;AF174049;AJ004886;AK222885;AK299216;AK299317;AK311454;AK313209;AMYH02015400;AMYH02015401;AMYH02015402;BC002893;BC036044;BI547092;BI826753;CH236948;CH471073;KF458416;NM_003930;XM_005249901 AAC39924;AAC99296;AAD53795;AAH02893;AAH36044;AAS02033;AAS07536;ABM83822;ABM87143;BAA36194;BAD96605;BAG36025;BAH12970;BAH12999;CAA06193;EAL24231;EAW93858;EAW93859;EAW93860;NP_003921;O75563;XP_005249958 Hs.200770;Hs.610137 1648670;1652969;1684138;1698202;1752989;1753119;1756543;1778848;2132599;5016911;5017564 D7S2810;G17151;RH102637;RH70585;RH93855;SHGC-143572;SHGC-68527;SHGC-77918;SKAP2;WI-11266;WI-12672 MGC10411;MGC33304;PRAP;RA70;SAPS;SCAP2;SKAP-HOM;SKAP55R Fyn-associated phosphoprotein SKAP55 homologue;OTTHUMP00000122527;Pyk2/RAFTK-associated protein;SKAP-55HOM;SKAP55 homolog;retinoic acid-induced protein 70;src family associated phosphoprotein 2;src family-associated phosphoprotein 2;src kinase-associated phosphoprotein 2;src kinase-associated phosphoprotein 55-related protein;src kinase-associated phosphoprotein of 55-related protein;src-associated adapter protein with PH and SH3 domains;src-associated adaptor protein APPROVED protein-coding ENSG00000005020 HGNC:15687 05558 605215 REVIEWED 1606383 SKIDA1 SKI/DACH domain containing 1 FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; acetaldehyde; all-trans-retinoic acid 10 10 10 p12.31 21490230 21502423 - 21802407 21814611 - 21513478 21526308 - 6480464 16344560;19322201;19913121;20628086;23535730;7829101 387640 E9PAX1;F5H7M0;Q1XH10 AB234866;ABBA01034496;ABBA01034497;AK127130;AK131456;AL358780;AL834446;AMYH02022421;AMYH02022422;BC142633;BI497298;CH471072;DB320086;NM_207371;XM_005252450;XM_005252451;XM_006717448 AAI56042;BAC86842;BAD18601;BAE93016;CAD39106;EAW86167;NP_997254;Q1XH10;XP_005252507;XP_005252508;XP_006717511 Hs.350848 5015861;5037552;7185938 D10S16;D8S2279 C10orf140;DKFZp761J229;DLN-1;FLJ45187 OTTHUMP00000183707;SKI/DACH domain-containing protein 1 APPROVED protein-coding ENSG00000180592 HGNC:32697 16981 VALIDATED 1351570 SKA2P1 spindle and kinetochore associated complex subunit 2 pseudogene 1 INTERACTS WITH benzo[a]pyrene (ortholog); ochratoxin A (ortholog); trimellitic anhydride (ortholog) 9 9 9 q33.2 96172444 96173250 + 125524129 125524935 + 122761850 122762656 + 6480464 15164053 729012 ABBA01043717;AC006313;AMYH02021592;NG_027505 Em:AC006313.1;FAM33B;SKA2L family with sequence similarity 33, member B;spindle and kinetochore associated complex subunit 2-like APPROVED pseudo HGNC:23122 INFERRED 2306854 SKINTL Skint-like, pseudogene FOUND IN integral component of membrane (inferred) 1 1 1 p33 46854212 46934908 - 48567387 48648100 - 48101715 48182428 - 16710414;18408721 391037 A8MVG2 ABBA01050806;ABBA01050807;ABBA01050808;AL109659;AL356289;AMYH02000979;AMYH02000980;BX118767;DN994130;NR_026749 A8MVG2 Hs.585393 1650822;1699846;1700630;1723505;1760573 AL009484;RH103530;RH103938;RH118569;SHGC-144043 BTN12;SKINT1;SKINTP APPROVED pseudo HGNC:33993 VALIDATED 1605497 SKOR1 SKI family transcriptional corepressor 1 ENCODES a protein that exhibits SMAD binding; INVOLVED IN negative regulation of BMP signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN dendrite; neuronal cell body; INTERACTS WITH arsenite(3-); 1,3-dinitrobenzene (ortholog); choline (ortholog) 15 15 15 q23 45005997 45014230 + 68112042 68126498 + 67819704 67833836 + 6480464;8554872 15528197;16572171;17292623;17637780;18541116;19279021;19822783;20935630;21641385;21779176 390598 G3V3E1;G3V5H7;P84550 ABBA01038789;ABBA01038790;AC009292;AMYH02030673;AMYH02030674;AY669507;NM_001258024 AAI68376;AAV74188;NP_001244953;P84550 Hs.451224 CORL1;FUSSEL15;LBXCOR1 LBX1 corepressor 1;Lbxcor1 homolog;OTTHUMP00000244643;OTTHUMP00000244644;OTTHUMP00000244645;corepressor for LBX1;functional Smad-suppressing element on chromosome 15;functional smad suppressing element 15;fussel-15;ladybird homeobox corepressor 1;transcriptional corepressor CORL1 APPROVED protein-coding HGNC:21326 611273 VALIDATED 1606819 SKIV2L2 superkiller viralicidic activity 2-like 2 (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN maturation of 5.8S rRNA; ASSOCIATED WITH Melanoma (inferred); FOUND IN catalytic step 2 spliceosome; exosome (RNase complex); nucleus; INTERACTS WITH 17alpha-ethynylestradiol; 2-methylcholine; 5-azacytidine 5 5 5 q11.2 51556391 51674226 + 54603576 54721409 + 55307748 55425581 + 6480464;8554872 11110791;11719186;11790298;11812149;11991638;12429849;12477932;14667819;14676314;15231747;15489334;15635413;16263084;16344560;16782053;17353931;17412707;17542649;17643375;18029348;18309376;19156129;19596686;20020773;20531386;20811636;21139048;21145461;21252943;21693764;21890473;21906983;21963094;22145905;22174317;22586326;22939629;22952844;23000965;23602568;23667531;24255178;24332808;24457600;24778252;24816145;25027693;7584044 23517 D6REC7;H0Y8U3;H0YAC4;P42285;Q3MHC9 ABBA01015739;AC010480;AC020728;AK291649;AK304788;AMYH02011311;BC014669;BC028604;BC031779;BC065258;BC104996;BC105291;BC113509;BX640789;CH471123;D29641;DA524147;NM_015360 AAH14669;AAH28604;AAH31779;AAH65258;AAI04997;AAI05292;AAI13510;BAA06124;BAF84338;BAG65538;CAE45877;EAW54919;NP_056175;P42285 Hs.274531 1676980;1684311;1729297;2175710;5109609 D20S536E;G64173;RH76135;RH99030;WI-15758 Dob1;KIAA0052;MGC142069;Mtr4;fSAP118 ATP-dependent RNA helicase SKIV2L2;ATP-dependent helicase SKIV2L2;OTTHUMP00000122510;TRAMP-like complex helicase;functional spliceosome-associated protein 118;superkiller viralicidic activity 2-like 2 protein-coding ENSG00000039123 HGNC:18734 13777 VALIDATED 733474 SIX3 SIX homeobox 3 This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009] 2 2 2 p21 45007709 45011888 + 45169037 45173216 + 44941898 44946077 + 1599335;1599336;1580863;6480464;7240710;8554872;8699517 10369266;15523651 10415461;10490620;11069920;11173923;11554737;12050133;12107413;12441302;12477932;12543801;14973488;15221788;15635066;16323008;17576749;17666527;18791198;18836447;1887845;19346217;19353631;19921650;20057906;20157829;20201926;20301552;20301702;20531442;20634891;20682799;21909109;21940735;22310223;22488850;23977152;8889548;9889003 6496 O95343;Q9NSJ2 ABBA01075117;ABBA01075118;ABBA01075119;AC012354;AF049339;AF083891;AF092047;AJ012611;AL162671;AMYH02003713;BC030289;BF569811;BF570321;BM668514;CD673488;CH471053;EL952320;NG_016222;NM_005413 AAD11939;AAD15753;AAD51091;AAH30289;AAI53027;AAX93283;CAB42539;CAB83141;EAX00267;EAX00268;NP_005404;O95343 Hs.567336 1684016;1789112;1789558;2189527 D2S4014;G65690;RH143896;RH94877 HPE2 OTTHUMP00000201650;homeobox protein SIX3;sine oculis homeobox homolog 3 APPROVED protein-coding ENSG00000138083 HGNC:10889 04756 157170;269160;603714 REVIEWED 1342955 SKI SKI proto-oncogene This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009] 1 1 1 p36.33 349404 432073 - 2160134 2241652 + 2228695 2310213 + 1580863;6480464;6484113;7240710;8554872;8699517 10049357;10485843;10531062;10549282;10575014;10823891;11121043;11278756;11306568;11430826;11441023;11522815;11719430;12034730;12154125;12419246;12426322;12435627;12732634;12764135;12793438;12857746;12874272;14525983;14583455;14699069;14712482;14761981;15107821;15122324;15128733;15231748;15312649;15542823;15621726;15761153;15806149;16054854;16327884;16424870;16710414;16959829;16987993;17054724;17283070;17469184;17510063;17592292;17621263;18261624;18451154;18508800;18729074;18782659;19008232;19032343;19049980;19096149;19112531;19341714;19546161;19594546;19845874;19875456;19959502;20301454;20404506;20572854;20624875;20634891;20672350;20691163;20853076;20959473;21107877;21149449;21466664;21600873;21685371;21795712;21906983;22194822;22227247;22229264;22411991;22853316;22984993;23023332;23103230;23382691;23441061;23530056;23602568;23809940;23892090;24011664;25059663;2762147;3026737;8233802;8514802;9380514;9569025;9927733;9988677 6497 P12755;Q7Z462 ABBA01016089;ABBA01016090;ABBA01016091;ABBA01016092;AK309515;AL590822;AMYH02000120;AMYH02000121;AY331180;AY334557;AY338687;CH471183;NG_013084;NM_003036;X15218;XM_005244775;XM_005244776 AAI56045;AAI57083;AAP94890;AAP97864;AAQ16119;CAA33288;EAW56117;EAW56118;NP_003027;P12755;XP_005244832;XP_005244833 Hs.656507 1650897;1686486;1706850;1766385;2115962 D1S2515;RH79610;SHGC-149729;SHGC-31449;SHGC-80908 C-ski;SGS;SKV OTTHUMP00000001507;proto-oncogene c-Ski;ski oncogene;ski oncoprotein;v-ski avian sarcoma viral oncogene homolog 2292936;2293000 PRSTS117_H;PRSTS118_H APPROVED protein-coding ENSG00000157933 HGNC:10896 01271 164780;182212 REVIEWED 1351044 SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008] 6 6 6 p21 33526343 33537294 + 31926581 31937532 + 31958804 31969755 + 1580863;6480464;8699517;8554872;7240710 10774746;11487501;11719186;12477932;12861003;15231747;15302935;16024656;16964243;17081983;17542649;17997607;18976687;19556007;19851445;19913121;20385819;20587610;20628086;20861866;21139048;21890473;21906983;21963094;21987572;21988832;22053931;22444670;22586326;22797925;22939629;23260260;23382691;23455636;23577725;23658844;23679950;24639526;7610041;7759100;8132574;8812450;9264031;9705521;9799600 6499 B4DM01;B4E0B4;F8WDE8;H7C4L3;H7C5N0;Q15477 AB209605;ABBA01038099;ABBA01038100;AF019413;AF059675;AK293881;AK297230;AK299967;AK303302;AK303448;AL049547;AL529319;AL645922;AL662849;AL844853;AMYH02013456;BC015758;BE395851;BG396326;BX005143;CH471081;CR753822;CR753845;CR759782;NG_032652;NM_006929;U09877;U37116;U37117;X98378;XM_006715168;XM_006725497;XR_430936;XR_430997;XR_431014;XR_431044;Z48796 AAA93258;AAA93259;AAB52523;AAB67978;AAC78607;AAH15758;ABM83013;ABW03481;BAD92842;BAG57270;BAG59713;BAG61793;BAG64376;BAG64493;CAA67024;CAA88733;CAB89307;EAX03554;EAX03555;EAX03556;EAX03557;NP_008860;Q15477;XP_006715231;XP_006725560 Hs.89864 2128137;2178940 RH70616;WI-16314 170A;DDX13;HLP;SKI2;SKI2W;SKIV2;THES2 OTTHUMP00000029197;helicase SKI2W;helicase-like protein;superkiller viralicidic activity 2 (S. cerevisiae homolog)-like APPROVED protein-coding ENSG00000204351 HGNC:10898 02724 600478;614602 REVIEWED 1352768 SKP1P1 S-phase kinase-associated protein 1 pseudogene 1 7 7 7 q11.21 66227164 66228308 + 65887829 65888973 - 66422842 66423986 - 12853948;8530064;8646875;8912791;9031623;9847074 6922 ABBA01048989;AC008267;AMYH02015910;CH236961;NG_002399 ABZ92540 EMC19;OCP2;TCEB1L;TCEB1P;TCEB1P1 APPROVED pseudo HGNC:33696 INFERRED 1350075 SKP1P2 S-phase kinase-associated protein 1 pseudogene 2 12 12 12 p12.3 22285842 22286700 + 17141681 17143562 + 16988747 16990628 + 8646875 6501;728622 ABBA01067914;AC023512;AK310444;AMYH02026110;NR_036619 Hs.741380 1681660;2146207;5014051 D8S2278;SHGC-5625;STS-U37558 FLJ17486;SKP1B;p19B APPROVED pseudo HGNC:10900 601435 VALIDATED 9586120 SKP1P3 S-phase kinase-associated protein 1 pseudogene 3 9 9 9 p12 40116826 40117306 + 41630410 41631121 + 39485392 39486103 + 100101119 ABBA01167068;AL954139;AMYH02019618;BX248098;NG_006153 pseudo HGNC:50370 INFERRED 1316064 SKA2 spindle and kinetochore associated complex subunit 2 ENCODES a protein that exhibits microtubule binding; INVOLVED IN cell division; chromosome segregation; mitotic nuclear division; FOUND IN condensed chromosome outer kinetochore; cytoplasm; spindle microtubule; INTERACTS WITH benzo[a]pyrene; calcitriol; cobalt dichloride 17 17 17 q22 53649948 53695816 - 57187308 57232800 - 59109947 59155439 - 737633;6480464 12477932 14702039;15489334;16344560;17093495;17207965;18583474;19156129;19289083;20470754;21988832;22371557;22483620;23666239;24816145 348235 J3KRW9;J3KRZ0;J3KSP0;J3KTC5;J3QKN8;J3QL03;J3QS74;Q8WVK7 ABBA01041360;ABBA01041361;ABBA01041362;ABBA01041363;ABBA01041364;AC099850;AK022820;AK056473;AMYH02033702;BC017873;BC106003;BQ019350;CH471109;DA133216;DB158057;FJ648812;NM_001100595;NM_182620 AAH17873;AAI06004;ACN41865;ADQ32261;BAG51725;EAW94420;EAW94421;EAW94422;EAW94423;NP_001094065;NP_872426;Q8WVK7 Hs.463607 1655570;1672103;1691754;1698860 G42225;RH102995;RH78002;WI-10139 FAM33A;FLJ12758;MGC110975 family with sequence similarity 33, member A;spindle and KT (kinetochore) associated 2;spindle and kinetochore-associated protein 2 protein-coding ENSG00000182628 HGNC:28006 13306 VALIDATED 1351693 SLA Src-like-adaptor ENCODES a protein that exhibits SH3/SH2 adaptor activity (inferred); INVOLVED IN positive regulation of signal transduction (inferred); PARTICIPATES IN platelet-derived growth factor signaling pathway; ASSOCIATED WITH Melanoma (inferred); PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (inferred); FOUND IN endosome (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; arsenous acid 8 8 8 q24 130226336 130292597 - 134048973 134115604 - 133036728 133103066 - 1580863;6480464;6484113;7240710;8554872 10449770;10662792;10779329;11179692;11696592;12477932;15117958;15489334;16169070;16273093;16327786;16344560;16521218;17237826;18193084;19240061;19631983;20379614;21145461;21900206;22505724;22561518;22798681;22832960;23300935;23612905;24284075;24457997;7543898;8825655;9020066;9660183;9742401 6503 E5RGG0;E5RH80;E5RHT2;E5RJ69;E5RJB0;E5RK29;E5RK95;Q13239 ABBA01014201;AF235100;AF305872;AJ238591;AK297423;AK297519;AK309401;AK310092;AK310108;AK310115;AK311010;AK312584;AMYH02018810;AW137142;BC007042;BT019994;BX648382;CH471060;CR536537;D89077;DA483212;DA522819;DA999385;DB265860;DC313073;FB775548;HI573974;HI573976;HI573978;KF458851;KF458852;KF458854;KF495732;KF511066;NG_015832;NM_001045556;NM_001045557;NM_001282964;NM_001282965;NM_006748;U30473;U44403;Y18324 AAC27662;AAC50357;AAH07042;AAV38797;ACE86434;ACE87109;BAA13758;BAG35478;BAH12578;BAH12602;CAB53536;CAG38774;CAV30731;CBX47476;CBX47477;CBX47478;EAW92159;NP_001039021;NP_001039022;NP_001269893;NP_001269894;NP_006739;Q13239 Hs.75367 1341222;1342341;1650843;1685405;1722115;1739113;1757497;2117835;2117837;2117839;2143551;2148358;2186046;7185587 A002K18;D17S1775;D1S466;D8S1538;D8S529;G60100;HSC06D062;IB3077;RH11483;RH47284;SHGC-144869;SHGC-32844;WI-3500 SLA1;SLAP;SLAP-1;hSLAP OTTHUMP00000226704;OTTHUMP00000226705;OTTHUMP00000226706;OTTHUMP00000226708;src-like-adapter;src-like-adapter protein 1 protein-coding ENSG00000155926 HGNC:10902 03060 601099;613811 VALIDATED 1320351 SLA2 Src-like-adaptor 2 This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 31947996 31982111 - 35240922 35274619 - 36612519 36646216 - 1580863;6480464;8554872 11696592;11780052;11891219;12024036;12477932;12527895;14702039;15174051;15489334;16273093;16344560;16623714;17353186;20828795;21044367;22505724 84174 Q9H6Q3 ABBA01006582;ABBA01006583;ABBA01006584;ABBA01006585;AF290985;AF290986;AF326353;AK025645;AK291513;AL031662;AL050318;AMYH02037026;AMYH02037027;AMYH02037028;AMYH02037029;AMYH02037030;BC042041;BF062179;BF510664;BQ052468;CH471077;DA983348;KF456890;NG_031823;NM_032214;NM_175077;XM_005260572 AAH42041;AAL29204;AAL38197;AAL38198;BAB15201;BAF84202;EAW76116;EAW76117;EAW76118;EAW76119;NP_115590;NP_778252;Q9H6Q3;XP_005260629 Hs.713578 1662759;1671904;2146297;2151711;2162048;2180836;5014023 AL031472;D13S1553;D20S1010;HUM000AA21;RH65678;WI-19258;Z94699 C20orf156;FLJ21992;MARS;MGC49845;SLAP-2;SLAP2 OTTHUMP00000030867;OTTHUMP00000030868;Src-like adapter protein-2;modulator of antigen receptor signaling;src-like adapter protein 2;src-like-adapter 2 APPROVED protein-coding ENSG00000101082 HGNC:17329 05955 606577 REVIEWED 1603921 SLAIN1 SLAIN motif family, member 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH copper atom; copper(0); cyclosporin A 13 13 13 q22.3 59170471 59236367 + 78271989 78338377 + 77697737 77764242 + 6480464;8554872 12477932;14702039;16344560;16546155;24816145 122060 B7Z326;C9JAC5;C9JD09;C9JP03;C9JUW9;Q5T6P1;Q5T6P2;Q5T6P5;Q7L0J2;Q8ND83;X6RDJ2;X6RGK9 ABBA01021668;AK054608;AK094337;AK289600;AK289714;AK294201;AK295423;AL354831;AL834203;AL834332;AMYH02028322;BC045177;BC111497;BG391962;BI599720;BQ433296;CH471093;DA096260;DA343547;DB500463;NM_001040153;NM_001242868;NM_001242869;NM_001242870;NM_001242871;NM_144595;XM_006719765 AAH45177;AAI11498;ACE86713;ACE86714;ACE86717;ACE87398;ACE87399;ACE87403;BAB70772;BAF82289;BAF82403;BAH11695;BAH12062;CAD38891;CAD39000;EAW80571;NP_001035243;NP_001229797;NP_001229798;NP_001229799;NP_001229800;NP_653196;Q8ND83;XP_006719828 Hs.349955;Hs.732587 1656783;1690308;1855569;2158150 G27419;RH80471;SHGC-8188;WI-19918 C13orf32;FLJ30046;MGC131899 OTTHUMP00000018528;OTTHUMP00000018529;OTTHUMP00000018531;OTTHUMP00000215095;OTTHUMP00000215096;OTTHUMP00000215097;SLAIN motif-containing protein 1 protein-coding ENSG00000139737 HGNC:26387 13400 610491 VALIDATED 1347276 SKP1 S-phase kinase-associated protein 1 This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008] 5 5 5 q31 129615775 129636409 - 133492082 133512724 - 134156391 134177033 - 6480464;6484113;6907045;5490225 21135871 10023660;10066435;10074433;10228155;10230406;10230407;10321728;10508920;10514433;10531035;10531037;10559858;10559916;10644755;10648623;10713156;10918611;10973499;11027288;11099048;11231585;11245432;11337588;11359933;11389839;11483504;11565034;11585921;11689688;11717410;11850407;11956208;11961546;12117534;12140560;12165731;12417738;12477932;12481031;12504025;12504026;12609982;12628165;12665572;12679038;12684064;12717421;12746458;12791267;12820959;12840033;12904573;12963825;14603323;14685242;14702039;14706645;14743216;14752276;15070733;15103331;15109709;15118074;15145941;15280393;15342634;15452136;15456869;15469821;15469984;15489334;15635413;15640526;15772084;15966899;16009132;16123585;16169070;16196087;16275325;16278047;16357137;16501598;16503656;16682006;16705156;16714087;16759355;16880511;16943429;16979657;17081987;17098746;17205132;17215248;17274640;17283138;17290223;17314511;17353931;17389369;17389604;17434132;17463251;17494702;17550899;17569795;17704768;17998335;18071316;18094045;18203720;18239684;18247557;18284940;18378770;18426905;18498745;18660753;18775313;18781797;18784078;18784254;18809579;18818696;19061640;19066453;19159283;19193609;19270694;19295130;19322201;19398581;19471022;19509332;19615732;19762596;19762597;19776120;19786724;19828458;19933270;19996097;20041211;20057081;20160477;20181953;20181957;20360068;20379614;20404110;20473970;20484041;20668394;20832730;21139048;21145461;21169563;21205095;21249194;21378169;21402913;21466614;21565611;21572392;21572988;21620836;21640084;21726808;21757720;21778237;21890473;21906983;21915095;21952639;21963094;21988832;22053931;22113614;22190034;22205206;22205987;22242598;22268729;22295074;22310285;22325352;22388891;22399757;22405651;22464731;22474075;22479149;22505724;22590978;22632967;22660580;22669845;22730322;22761574;22767593;22939629;22952844;22972877;22975506;23000965;23027877;23045529;23086937;23108047;23261596;23319600;23324393;23383273;23438482;23443559;23455922;23469015;23478441;23503662;23563313;23589227;23589337;23602568;23604317;23607312;23624913;23658844;23824909;23868976;23910095;23951410;23988235;24019069;24035498;24085301;24157836;24255178;24318128;24362026;24390425;24457600;24469040;24500709;24657926;24778179;24785407;24811168;24912152;24912918;24947323;24992930;25036637;7553852;7558018;8051045;8530064;8646875;8706131;8912791;9031623;9430629;9636170;9660940;9663463;9736735;9827542;9857061;9858587;9872132;9990852 6500 E5RGM3;E5RGM4;E5RHM3;E5RI56;E5RJR5;E5RK33;E7ERH2;F8W8N3;P63208 ABBA01068766;AC011336;AC104109;AI025746;AI028694;AK057110;AMYH02012238;AMYH02012239;BC009839;BC020798;BC025673;BC065730;BI552966;BI670085;BQ632052;CH471062;L49170;L49173;L49176;NM_006930;NM_170679;U33760;U37558;Z47087 AAA79202;AAB50032;AAB50264;AAB50265;AAC50241;AAH09839;AAH20798;AAH25673;AAH65730;ABM82438;ABM85629;ACE86547;ACE87228;CAA87392;EAW62270;EAW62271;EAW62272;EAW62273;EAW62274;EAW62275;EAW62276;NP_008861;NP_733779;P63208 Hs.171626 1681660;1734272;1771820;1774867;1780652;2146207 D4S2465E;RH67782;SHGC-5625;STS-U37558;WI-13758;bac51513T EMC19;MGC34403;OCP-2;OCP-II;OCP2;SIII;SKP1A;TCEB1L;p19A;p19skp1 OTTHUMP00000159379;OTTHUMP00000159380;OTTHUMP00000228275;OTTHUMP00000228276;OTTHUMP00000228278;OTTHUMP00000228279;OTTHUMP00000228281;RNA polymerase II elongation factor-like protein OCP2;cyclin A/CDK2-associated p19;cyclin A/CDK2-associated protein p19;cyclin-A/CDK2-associated protein p19;organ of Corti protein 2;organ of Corti protein II;transcription elongation factor B;transcription elongation factor B (SIII), polypeptide 1-like;transcription elongation factor B polypeptide 1-like APPROVED protein-coding HGNC:10899 03255 601434 VALIDATED 1602874 SLAIN2 SLAIN motif family, member 2 INVOLVED IN cytoplasmic microtubule organization; microtubule nucleation; positive regulation of microtubule polymerization; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centrosome; cytoplasm; microtubule cytoskeleton; INTERACTS WITH all-trans-retinoic acid; lead(0); lead(2+) 4 4 4 p11 48792323 48877038 + 48343497 48428218 + 48341480 48426201 + 6480464;8554872 10819331;12477932;14702039;16546155;16712791;19531213;20056178;20360068;21646404;21706016;21832049;22939629;23128233;23402259;23602568;24816145;7757816 57606 D6REM5;D6RIF6;H0Y9L2;Q9P270 AB040891;ABBA01014345;ABBA01014346;ABBA01014347;ABBA01014348;AC024191;AC096952;AC098873;AK025264;AK026476;AK291006;AMYH02009168;BC006139;BC007701;BC012067;BC031691;BC040993;CB157681;CH471069;NM_020846;XM_005248121;Z25182 AAH31691;AAH40993;BAA95982;BAB15095;BAF83695;EAW93057;EAW93058;NP_065897;Q9P270;XP_005248178 Hs.479677 1643620;1645651;1659780;1678507;1680940;1686564;1686889;2159602;2185363 D4S2471E;D4S2482E;D4S2804;G34404;RH70048;SHGC-50258;SHGC-67310;SHGC-67327;SHGC-8621 FLJ21611;KIAA1458 OTTHUMP00000220622;OTTHUMP00000223077;SLAIN motif-containing protein 2 protein-coding ENSG00000109171 HGNC:29282 610492 VALIDATED 6480156 SLAMF6P1 SLAM family member 6 pseudogene 1 1 1 q23.3 162415339 162415676 + 162445549 162445886 + 100862852 ABBA01047305;AL359699;AMYH02002039;NG_032142 pseudo HGNC:32012 INFERRED 1344109 SLAMF1 signaling lymphocytic activation molecule family member 1 ENCODES a protein that exhibits antigen binding (inferred); receptor activity (inferred); transmembrane signaling receptor activity (inferred); INVOLVED IN lymphocyte activation (inferred); positive regulation of cell proliferation (inferred); regulation of catalytic activity (inferred); PARTICIPATES IN measles infection pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; 1,4-phenylenediamine; 1-chloro-2,4-dinitrobenzene 1 1 1 q23.3 133648634 133685810 - 160579891 160617081 - 160609819 160647311 - 1580863;6480464;6907045 10229804;10549287;10607564;10802665;10972291;11414741;11477068;11489980;11544303;11689425;11806999;12270725;12458214;12477932;12545174;12610126;12621057;12629654;14657878;14707094;15193925;15308701;15315965;15356162;15661039;16344560;16889684;17560639;17692919;17715217;18020706;18287234;18676680;19170196;19199539;19625176;19692168;20042501;20231852;20237496;20379614;20618687;20810499;21357537;21423089;21450813;21982860;22086389;22194822;22277902;22479419;22493499;22532682;22974441;23128233;23554862;24238277;24373350;25015289;7617038;9091591;9774102 6504 B4E2E4;Q13291 AA825199;ABBA01016612;AF252304;AF252305;AF252306;AK304237;AK311666;AK314244;AL121985;AL138930;AMYH02002026;AY040554;BC012602;BC067847;BC110349;BC132792;BC144498;BC144499;BC144500;CH471121;DB133023;FB584107;FB584111;KF471075;NM_003037;NR_104399;NR_104400;NR_104401;U33017;XM_005245456;XM_005245457 AAA75380;AAG10433;AAG10434;AAG17628;AAH12602;AAI32793;AAK77968;ADR82949;AHF72732;BAG36911;BAG65106;CAR96687;CAR96689;EAW52706;NP_003028;Q13291;XP_005245513;XP_005245514 Hs.523660 1342069;1667229;1768527;1857338;1857340;2218604 D1S2771;G34872;RH18033;RH79145;SGC35581;SLAM_4157 CD150;CDw150;IPO-3;SLAM OTTHUMP00000025670;signaling lymphocytic activation molecule protein-coding HGNC:10903 04603 603492 VALIDATED 1345807 SLAMF6 SLAM family member 6 The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] 1 1 1 q23.2 133523548 133561781 - 160454820 160493052 - 160485030 160523262 - 1580863;6480464;8554872 11489943;11862385;12477932;12621057;12928397;12975309;14988414;15153464;15340161;15489334;16344560;16410313;16710414;16920955;17045824;17609265;17981603;19913121;20237496;20379614;20628086;21075348;21075351;21231893;21922073;21994772;22184727;22989874;23308067;23528733;23612905;24035804;24036078;24688028;6610481;8756661;8892612 114836 B4E1U5;Q96DU3 ABBA01016612;AJ277141;AJ306388;AK125624;AK300013;AK301026;AK303990;AK310085;AK313549;AL138930;AL832854;AMYH02002026;AW402723;AY358159;BC090928;BC113893;BC114495;CH471121;DB197632;JA738795;NM_001184714;NM_001184715;NM_001184716;NM_052931 AAI13894;AAI14496;AAQ88526;BAG36325;BAG54223;BAG62642;BAG64907;BAH13193;CAC59749;CAC59750;CAI46161;CCF77050;EAW52713;EAW52714;EAW52715;EAW52716;NP_001171643;NP_001171644;NP_001171645;NP_443163;Q96DU3 Hs.492348 5020948;5037552 D8S2279;G35510 CD352;FLJ50657;KALI;Ly108;MGC104953;NTB-A;NTBA;SF2000 KALIb;NK-T-B-antigen;NTBA receptor;OTTHUMP00000024347;OTTHUMP00000024348;OTTHUMP00000024349;activating NK receptor;natural killer-, T- and B-cell antigen APPROVED protein-coding ENSG00000162739 HGNC:21392 05920 606446 REVIEWED 1607086 SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011] 5 5 5 p13 36037882 36069833 + 36152091 36184143 + 36151989 36184041 + 2315043;2315049;2315050;2315036;2315038;2315029;2315035;2302384;2315042;2315044;2315045;2315046;6480464;6484113;6907045 12670908;15220466;15351619;16080017;16525656;18559093;18922157;19094580;19350629;19450994;19533683;19852587 10230406;10386600;10531035;10559858;10559916;10652300;10790373;10871850;10918611;11099048;11226270;11231585;11237742;11245432;11255262;11337588;11425869;11463388;11565034;11689688;11931757;11961546;12042314;12097298;12133445;12140288;12188931;12208864;12351407;12429629;12435635;12477932;12504026;12529174;12579266;12609982;12670508;12717421;12738731;12769844;12813041;12840033;12861003;12883474;12904306;12925736;12963825;13678583;14558671;14586067;14592976;14615539;14707456;14993212;15004027;15014502;15014503;15041716;15070733;15075339;15096506;15138278;15201993;15215173;15297415;15314162;15342634;15355997;15452136;15456869;15469821;15483027;15489334;15491322;15605273;15631990;15645119;15668399;15735730;15735731;15736055;15756449;15767556;15772084;15833859;15855168;15949444;15963850;15980415;16024059;16103164;16170383;16209941;16232199;16275325;16286470;16338391;16344560;16376880;16425184;16425372;16428491;16463785;16489076;16537899;16581786;16636894;16705171;16754685;16774918;16803887;16835890;16861300;16865698;16880511;16883603;16902410;16924241;16951159;16979657;17081983;17157259;17187060;17283060;17303695;17308064;17345711;17384652;17407140;17409098;17431674;17438373;17439941;17463251;17471231;17477906;17499794;17513606;17560996;17581405;17639054;17652624;17679094;17704768;17724117;17785450;17786314;17908926;17962192;18008005;18064393;18071316;18097041;18162579;18173839;18196971;18202766;18239684;18243116;18247557;18381934;18451165;18514141;18516647;18519678;18538504;18604603;18620730;18620845;18628304;18644126;18695910;18716061;18765672;18769160;18784254;18800682;18808421;18820369;18826954;18950007;18953829;19029817;19034576;19047054;19056892;19112177;19147533;19174556;19270694;19270695;19322201;19398581;19451650;19557642;19587092;19615363;19615732;19622356;19631451;19636294;19657571;19686743;19724954;19738611;19786724;19828607;19889619;19913121;19935701;19961778;20041211;20134482;20160477;20160482;20360068;20422979;20424123;20426910;20465575;20508983;20628086;20659261;20663873;20717963;20734220;20818375;20864512;20883453;21119685;21139048;21145461;21212736;21237244;21238503;21245140;21249194;21270971;21352698;21358672;21386910;21503567;21514447;21558842;21571647;21630295;21677876;21704589;21768776;21781227;21841822;21890473;21906983;21946088;21963094;21969365;21980072;21987572;21988832;22013077;22077337;22094872;22158033;22203671;22204716;22252296;22310285;22322669;22440256;22453922;22464731;22505724;22515289;22533738;22632973;22714061;22770219;22797925;22939624;22939629;22975506;22995332;23045395;23062638;23071715;23071779;23086937;23229098;23230084;23261596;23277542;23300741;23328082;23328995;23348237;23352642;23455922;23589337;23602568;23665265;23770852;23792459;23807222;23868976;23907123;23910095;23932902;23939428;23946596;23951410;23972993;24045951;24085301;24255178;24259667;24277465;24336114;24347472;24443386;24623419;24642627;24816145;25036637;7553852;8646875;9430629;9636170;9663463;9736735;9827542;9858587 6502 D6R9R7;D6RAG5;D6RF40;H0Y9I9;Q13309 AB050979;AB050980;AB050981;ABBA01024162;ABBA01024163;ABBA01024164;AC008942;AK026224;AK291255;AK295152;AK296223;AMYH02011163;AY029177;BC001441;BC007441;CA415778;CH471119;DA223617;KC876966;NG_029643;NM_001243120;NM_005983;NM_032637;U33761;XM_006714487 AAC50242;AAH01441;AAH07441;AAK31593;BAB87200;BAB87201;BAB87202;BAF83944;BAG58168;BAG58946;EAW55934;EAW55935;EAW55936;EAW55937;EAW55938;NP_001230049;NP_005974;NP_116026;Q13309;XP_006714550 Hs.23348 1676442;2170028;5015619;5022200;5037552 D11S3114;D8S2279;L18426;L28202;RH64840 FBL1;FBXL1;FLB1;MGC1366;p45 CDK2/cyclin A-associated protein p45;F-box protein Skp2;F-box/LRR-repeat protein 1;OTTHUMP00000161733;OTTHUMP00000161734;OTTHUMP00000221389;S-phase kinase-associated protein 2;S-phase kinase-associated protein 2 (p45);cyclin A/CDK2-associated protein p45;cyclin-A/CDK2-associated protein p45;p45skp2 APPROVED protein-coding ENSG00000145604 HGNC:10901 03256 601436 REVIEWED 1314830 SKIL SKI-like proto-oncogene The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 3 3 3 q26 168475164 168510628 + 170075473 170114637 + 170357678 170396849 + 1580863;2308901;2308888;6480464;6484113 19189315;19382458 10049357;10531062;11278756;11306568;11389444;11511096;11691834;12426322;12477932;12522145;12764135;14712482;15221015;15231748;15489334;15496141;15677458;15761153;15809735;15967445;16109768;16314499;16344560;16442497;16675394;16959829;16966324;17062133;17074815;17202138;17276978;17469184;17510063;17591695;17625116;18261624;18334480;18612694;18729074;18782659;19096149;19383336;19538364;19889106;19898560;20093492;20457602;20460516;20957027;20959473;21139048;21693764;21743467;21795712;21890473;21988832;22227247;22674574;22710172;22710173;22767605;23154181;23154981;23178716;23418461;23446947;23530056;23621864;23764425;23832742;24722188;25059663;2762147;8233802;8514802;9207045;9927733;9988677 6498 C9J8R9;H7C4V3;P12757 AA827643;AA827646;ABBA01058682;ABBA01058683;AC073288;AI245308;AK300053;AMYH02008118;AMYH02008119;AMYH02008120;AMYH02008121;BC041913;BC059386;CH471052;DA464211;JX103164;NG_030357;NM_001145097;NM_001145098;NM_001248008;NM_005414;U70730;X15217;X15219;XM_005247721;XM_006713735;Z19588 AAB65850;AAH59386;ABZ92141;ADZ15581;AFM38218;BAG61862;CAA33287;CAA33289;CAA79636;EAW78511;EAW78512;NP_001138569;NP_001138570;NP_001234937;NP_005405;P12757;XP_005247778;XP_006713798 Hs.536655;Hs.581632 1658412;1662175;1674214;1697292;2115782;2174028;2180038;2184985;5015861;5022578;7185938 D10S16;D1S1423;G15941;RH102143;RH68630;SHGC-35445;SHGC-77527;STS-X15217;STS-X15219;WI-9234 SNO;SnoA;SnoI;SnoN OTTHUMP00000213557;OTTHUMP00000213591;OTTHUMP00000213592;OTTHUMP00000213595;SKI-like oncogene;ski-like protein;ski-related oncogene snoN;ski-related protein APPROVED protein-coding ENSG00000136603 HGNC:10897 01319 165340 REVIEWED 1314782 SLAMF8 SLAM family member 8 This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132864904 132875709 + 159796440 159807282 + 159826650 159837492 + 1580863;6480464;8554872 11313408;12477932;12928397;14702039;15340161;15489334;16303743;16344560;16710414;20237496 56833 Q9P0V8;Q9Y351 ABBA01016618;AF144235;AF146761;AK074669;AL590560;AMYH02002018;BC109194;CH471121;CQ782632;DA578369;NM_020125;XM_005245345;XM_006711456;XM_006711457;XM_006711458 AAD33923;AAF67470;AAI09195;BAC11123;CAF85891;EAW52774;NP_064510;Q9P0V8;XP_005245402;XP_006711519;XP_006711520;XP_006711521 Hs.438683 1798158;2178946 SLAMF8_2285;WI-11725 CD353;FLJ20442;MGC129578;SBBI42 B lymphocyte activator macrophage expressed;B-lymphocyte activator macrophage expressed;BCM-like membrane protein;BLAME;OTTHUMP00000033462;OTTHUMP00000033463 APPROVED protein-coding ENSG00000158714 HGNC:21391 09429 606620 REVIEWED 1345987 SLAMF7 SLAM family member 7 ENCODES a protein that exhibits receptor activity (inferred); INVOLVED IN regulation of natural killer cell activation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN external side of plasma membrane (inferred); integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; aflatoxin B1; ethyl methanesulfonate 1 1 1 q23.1-q24.1 133777800 133793320 + 160708865 160724611 + 160739057 160754821 + 1580863;6480464;8554872 11076863;11220635;11230166;11698418;11802771;12242590;12477932;12621057;12975309;15340161;15368295;15489334;15489336;16344560;16381901;16410313;16710414;17878365;17906076;17981603;18216865;18451245;19904767;20237496;20345977;21982860;21988832;23128233;23250953;23695528;23956418;25015289 57823 B4DVL7;B4DW98;Q9NQ25;R4GND0 AB027233;ABBA01016611;AF291815;AF390894;AJ271869;AJ276429;AK290706;AK292097;AK292148;AK298499;AK298548;AK301137;AK301432;AK301438;AL121985;AL713801;AL833025;AL834424;AMYH02002027;AY358512;BC027867;BQ000581;CH471121;DA644251;DA978435;DA978525;DC388332;NM_001282588;NM_001282589;NM_001282590;NM_001282591;NM_001282592;NM_001282593;NM_001282594;NM_001282595;NM_001282596;NM_021181;XM_005245386;XM_006711471 AAH27867;AAK11549;AAL26989;AAQ88876;ACE86969;ACE87659;BAB61022;BAF83395;BAF84786;BAF84837;BAG60706;BAG60745;BAG62729;BAG62960;BAG62965;CAB76561;CAB81950;CAD39085;CAL37819;CAL38153;EAW52703;EAW52704;NP_001269517;NP_001269518;NP_001269519;NP_001269520;NP_001269521;NP_001269522;NP_001269523;NP_001269524;NP_001269525;NP_067004;Q9NQ25;XP_005245443;XP_006711534 Hs.517265 2159624;2179717;2218806 RH70763;SHGC-63665;SLAMF7_2176 19A;CD319;CRACC;CS1 19A24 protein;CD2 subset 1;CD2-like receptor activating cytotoxic cells;CD2-like receptor-activating cytotoxic cells;OTTHUMP00000025677;OTTHUMP00000025678;OTTHUMP00000025679;membrane protein FOAP-12;novel LY9 (lymphocyte antigen 9) like protein protein-coding ENSG00000026751 HGNC:21394 09432 606625 VALIDATED 1314275 SLAMF9 SLAM family member 9 This gene encodes a member of the signaling lymphocytic activation molecule family. The encoded protein is a cell surface molecule that consists of two extracellular immunoglobulin domains, a transmembrane domain and a short cytoplasmic tail that lacks the signal transduction motifs found in other family members. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009] 1 1 1 q23.2 132989718 132992480 - 159921282 159924044 - 159951492 159954254 - 1580863;6480464 11300479;11685473;11862385;12477932;12975309;15489334;16710414;18501771 89886 Q6NSE6;Q96A28 ABBA01016617;AF275725;AL513485;AMYH02002018;AY034613;AY358801;BC070213;BC074754;CB528634;CH471121;NM_001146172;NM_001146173;NM_033438 AAH70213;AAH74754;AAK61389;AAK69052;AAQ89161;EAW52754;EAW52755;NP_001139644;NP_001139645;NP_254273;Q96A28 Hs.661712 1678119 RH98461 CD2F-10;CD2F10;CD84-H1;CD84H1;MGC88194;SF2001 CD2 family member 10;CD84 homolog 1;OTTHUMP00000025749;OTTHUMP00000025750;cluster of differentiation 2 antigen family member 10;cluster of differentiation 84 homolog 1;signaling lymphocytic activation molecule family member 2001;signaling lymphocytic activation molecule family member 9 APPROVED protein-coding ENSG00000162723 HGNC:18430 12263 608589 REVIEWED 1350910 SLBP stem-loop binding protein This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucleolytic cleavage. The stem-loop structure is essential for efficient processing but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is regulated during the cell cycle, increasing more than 10-fold during the latter part of G1. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 1605626 1625082 - 1694527 1714421 - 1692800 1712303 - 1580863;6480464 10207079;10825184;10982817;11782445;12415002;12477932;12588979;1338771;14536070;14702039;15260483;15489334;15546920;15829567;15916543;16086026;16492733;16912046;16931877;16982637;17081983;17499042;18025107;18172165;18490441;19155325;20348956;20881960;22094256;22328085;22439849;22907757;23234701;23286197;23329046;23941746;24255165;24816145;25002523;8652556;8957003;9049306 7884 E7EUV9;F8W8D3;H0YAE8;H7C4H8;Q14493;Q53XR2 ABBA01029532;AC016773;AK091735;AK093314;AK094257;AK300826;AK315635;AMYH02008585;AMYH02008586;BC014908;BC015703;BT007433;CH471131;NM_006527;U75679;Z71188 AAB97091;AAH14908;AAH15703;AAP36101;ABM83296;ABM86505;BAG38003;BAG52407;BAG52687;BAG52851;BAG62479;CAA94918;EAW82576;EAW82577;EAW82578;EAW82579;EAW82580;NP_006518;Q14493 Hs.298345 1678745;2181474;2181694 RH27233;SHGC-67765;WI-11359 HBP OTTHUMP00000113498;OTTHUMP00000216797;OTTHUMP00000216798;OTTHUMP00000216799;OTTHUMP00000216816;OTTHUMP00000217544;hairpin binding protein, histone;histone RNA hairpin-binding protein;histone binding protein;histone stem-loop binding protein;histone stem-loop-binding protein;stem-loop (histone) binding protein APPROVED protein-coding ENSG00000163950 HGNC:10904 03884 602422 REVIEWED 1319926 SLC10A4 solute carrier family 10, member 4 ENCODES a protein that exhibits bile acid:sodium symporter activity (inferred); INVOLVED IN bile acid and bile salt transport (inferred); sodium ion transport (inferred); transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; copper atom 4 4 4 p11 48934151 48940332 + 48485360 48491541 + 48483343 48489524 + 1580863;6480464 12477932;15489334;16541252;17106928;21890473;21906983;23128233;23589386;23948907 201780 Q96EP9 AA776274;ABBA01014349;ABBA01014350;AC096952;AI421729;AK126542;AMYH02009168;AY704414;BC012048;BC019066;CH471069;NM_152679 AAH12048;AAH19066;AAW30130;ABM83554;ABW03505;EAW93061;NP_689892;Q96EP9 Hs.132591 MGC29802;P4 Na(+)/bile acid cotransporter 4;OTTHUMP00000128285;bile acid transporter SLC10A4;sodium/bile acid cotransporter 4;solute carrier family 10 (sodium/bile acid cotransporter family), member 4;solute carrier family 10 member 4 APPROVED protein-coding ENSG00000145248 HGNC:22980 11562 VALIDATED 7247659 SLC10A5P1 SLC10A5 pseudogene 1 8 8 82546590 82547677 - 81634355 81635442 - 100631269 ABBA01004052;AC090255;AMYH02018315;NG_029285 pseudo HGNC:48930 INFERRED 1604951 SLC10A6 solute carrier family 10 (sodium/bile acid cotransporter), member 6 ENCODES a protein that exhibits bile acid:sodium symporter activity (inferred); sodium-dependent organic anion transmembrane transporter activity (inferred); INVOLVED IN bile acid and bile salt transport (inferred); sodium ion transport (inferred); sodium-dependent organic anion transport (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate (ortholog); 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 q21.3 85034180 85059864 - 87744477 87770416 - 86823324 86849263 - 6480464 12477932;16541252;17491011;22791750 345274 Q3KNW5 ABBA01063513;AC079237;AC093827;AC105413;AJ583502;AMYH02009660;BC107051;BC107052;CH471057;EF437223;NM_197965;XM_005262980 AAI07052;AAI07053;ABO38126;CAE47477;EAX05969;NP_932069;Q3KNW5;XP_005263037 Hs.452996 1707190 SHGC-79180 MGC129575;MGC129576;SOAT OTTHUMP00000161170;OTTHUMP00000219455;sodium-dependent organic anion transporter;solute carrier family 10 (sodium/bile acid cotransporter family), member 6;solute carrier family 10 member 6 APPROVED protein-coding ENSG00000145283 HGNC:30603 11593 613366 VALIDATED 3160638 SKOR2 SKI family transcriptional corepressor 2 ENCODES a protein that exhibits SMAD binding; transcription corepressor activity (ortholog); INVOLVED IN negative regulation of transforming growth factor beta receptor signaling pathway; FOUND IN cytoplasm; nucleus; INTERACTS WITH 1,3-dinitrobenzene (ortholog); choline (ortholog); folic acid (ortholog) 18 18 18 q21.1 41579319 41626006 - 44738460 44775554 - 47206694 47249183 - 6480464 16200078;18522874;20029986;21102462 652991 Q2VWA4 ABBA01018617;ABBA01018618;AC051635;AMYH02034664;AY669508;DW009659;NM_001037802;NM_001278063;XM_006722525 AAV74189;NP_001032891;NP_001264992;Q2VWA4;XP_006722588 Hs.585834 1696396;1855037;5016002 Fussel18;G18029;SHGC-77853 CORL2;FUSSEL18 LBX1 corepressor 1-like protein;functional Smad-suppressing element on chromosome 18;functional smad suppressing element 18;fussel-18;ladybird homeobox corepressor 1-like protein protein-coding ENSG00000215474 HGNC:32695 VALIDATED 737174 SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011] 14 14 14 q24.1 50306664 50328118 - 70242552 70264006 - 69775835 69797289 - 1580863;6480464;6907045 11031103;12044156;12477932;12663868;14660639;14701722;15489334;15604201;15922475;16027164;16123152;16541252;17207965;17635184;18976975;19343046;19815625;20031551;20346360;20424473;20679960;20857261;21109590;21341987;21988832;22029531;22098322;22744337;23150796;23815591;23886862;23930675;24342612;24361467;24390325;8132774 6554 B2RA41;Q14973 ABBA01030825;AF184235;AK314028;AL157789;AMYH02029438;AY544127;BC069799;BC069822;BC074724;BC126298;BC136355;CH471061;JQ814895;L21893;NM_003049 AAA36381;AAD56541;AAH69799;AAH69822;AAH74724;AAI26299;AAI36356;AAT11158;ADQ31923;ADR82943;AFL02669;BAG36738;EAW81011;NP_003040;Q14973 Hs.952 1664208;1775839;1798160;2163744 D14S1317;D14S1324;RH69025;SLC10A1_2001 NTCP Na(+)/bile acid cotransporter;Na(+)/taurocholate transport protein;Na/taurocholate cotransporting polypeptide;OTTHUMP00000245521;cell growth-inhibiting gene 29 protein;growth-inhibiting protein 29;sodium/bile acid cotransporter;sodium/taurocholate cotransporter;sodium/taurocholate cotransporting polypeptide;solute carrier family 10 (sodium/bile acid cotransporter family), member 1;solute carrier family 10 member 1;solute carrier family 10, member 1 APPROVED protein-coding HGNC:10905 01672 182396 REVIEWED 1354490 SLC10A3 solute carrier family 10, member 3 This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2008] X X X q28 153876701 153880053 - 153715645 153719002 - 154487306 154490690 - 1580863;6480464;8699517;8554872 11076863;11256614;12477932;1354645;15342556;15489336;16381901;16541252;17567994;19322201;21988832;3186440;8733135;8889548 8273 P09131;Q5HY78 ABBA01045273;AC244090;BC004966;BG327309;BM981524;BP281642;BX401493;BX664739;CH471172;DB460327;DQ655958;DQ655959;HY035183;HY098516;L44140;NG_013261;NM_001142391;NM_001142392;NM_019848;X12458;XM_005277913;XM_006724847;XM_006724848 AAA92651;AAH04966;CAA30998;CAL38023;CAL38530;EAW72697;EAW72698;EAW72699;NP_001135863;NP_001135864;NP_062822;P09131;XP_005277970;XP_006724910;XP_006724911 Hs.522826 1702998;1800252;1801816;1803824;1807552;1832852;1835032;2037522;2037524;2037526;2037528;2037530;2037532;2037534;2037536;2037538;2037540;2037542;2037544;2037546;2037548;2037550;2037552;2037554;2037556;2037558;2037560;2037562;2037564;2037566;2037568 DXS7067;ECD00984;ECD01789;ECD02822;ECD04748;ECD17567;ECD18669;REN89772;REN89773;REN89774;REN89775;REN89776;REN89777;REN89778;REN89779;REN89780;REN89781;REN89782;REN89783;REN89784;REN89785;REN89786;REN89787;REN89788;REN89789;REN89790;REN89791;REN89792;REN89793;REN89794;REN89795 DXS253E;P3 OTTHUMP00000015404;OTTHUMP00000015405;OTTHUMP00000015406;solute carrier family 10 (sodium/bile acid cotransporter family), member 3;solute carrier family 10 member 3 APPROVED protein-coding ENSG00000126903 HGNC:22979 02418 312090 REVIEWED 1314423 SLC10A5 solute carrier family 10, member 5 ENCODES a protein that exhibits bile acid:sodium symporter activity (inferred); INVOLVED IN bile acid and bile salt transport (inferred); sodium ion transport (inferred); transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsane; arsenic atom 8 8 8 q21.13 78610394 78611710 - 82605891 82607207 - 81693656 81694972 - 6480464 12477932;14702039;16541252;17632081;23535730 347051 Q5PT55 ABBA01004051;AC132219;AK095808;AMYH02018315;AY825924;BC136625;BC136631;CH471068;NM_001010893 AAI36626;AAI36632;AAV80707;BAG53134;EAW87101;NP_001010893;Q5PT55 Hs.683849 1730818;2217978 D8S333E;SLC10A5_3741 P5 Na(+)/bile acid cotransporter 5;OTTHUMP00000227211;sodium/bile acid cotransporter 5;solute carrier family 10 (sodium/bile acid cotransporter family), member 5;solute carrier family 10 member 5 APPROVED protein-coding HGNC:22981 18053 VALIDATED 737578 SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010] 12 12 12 q13 50175791 50224278 - 51373566 51422118 - 50979783 51028335 - 1580428;1580430;1580431;729808;1580863;2311409;5688411;5688715;5688713;5688710;5688724;5688718;6480464;5688709;5688403;5688410;6484113;8554872;8699517 14675167;15459009;16439678;17116743;17510944;19011085;20125122;20336479;21276595;21278260;21325818;21710629;21777657;9448300 10625641;10751401;10984552;11095929;11439223;11755534;11842004;11891802;11897618;11943663;12127992;12139757;12209011;12475959;12477932;12662899;12734107;12949720;12949888;12973678;14702039;14768003;15024413;15139022;15223008;15489334;15636493;15644277;15792797;15880641;16123094;16344560;17109629;17293870;17932044;17980698;18082289;18419598;18667808;18776082;18876082;19679638;19706893;19913121;19946888;20007457;20089134;20152801;20164305;20379614;20410187;20587610;20628086;20945371;21074515;21199652;21798283;21871825;21947861;21948377;22068728;22137264;22154351;22310887;22371024;22383495;22509377;22666436;22736759;23016933;23996061;24120082;24448823;7613023;9241278;9464519;9642100;9790986 4891 F8VR36;F8VRL7;F8VWB0;F8VZL6;F8W154;F8W1C0;F8W1D8;F8W1F2;F8W1P7;H0YIV3;P49281 AB004857;AB015355;AB062284;ABBA01031592;ABBA01031593;AC087884;AF046997;AF064482;AF064484;AJ493662;AK094735;AK128640;AK296445;AK315987;AK316507;AL832886;AMYH02026475;AMYH02026476;AMYH02026477;BC002592;BC100014;CD365137;CH471111;CK000292;DA417090;DA737206;DA957633;DB350334;DC324894;L37347;NG_021139;NM_000617;NM_001174125;NM_001174126;NM_001174127;NM_001174128;NM_001174129;NM_001174130;NR_033421;NR_033422;XM_005268911;XM_005268912;XM_005268913;XM_005268914;XM_005268916;XR_429104 AAA79219;AAC18078;AAC21459;AAC21460;AAC21461;AAH02592;AAI00015;ACT64403;ACT64404;BAA24933;BAA34374;BAB93467;BAG52920;BAG54706;BAG59096;BAH14358;BAH14878;CAD38517;EAW58159;EAW58160;EAW58161;EAW58162;EAW58163;EAW58164;EAW58165;NP_000608;NP_001167596;NP_001167597;NP_001167598;NP_001167599;NP_001167600;NP_001167601;P49281;XP_005268968;XP_005268969;XP_005268970;XP_005268971;XP_005268973 Hs.505545 1335399;1768424;1791884;1791886;1796774;1847762;2147755;2149258;2158604;2168440;2168442;2171737;2178986;2179383;2186705;5017266;5109739;5493888 A005U25;A006N48;D12S1249E;D12S1402;D12S813;G20510;L18506;PMC129447P4;PMC129447P5;RH17780;RH45071;RH47542;SHGC-33554;SHGC-35510;SLC11A2_739;Slc11a2;WI-11374;WI-22218 DCT1;DMT-1;DMT1;FLJ37416;NRAMP 2;NRAMP2 OTTHUMP00000241304;OTTHUMP00000241305;OTTHUMP00000241306;OTTHUMP00000241307;OTTHUMP00000241308;OTTHUMP00000241309;OTTHUMP00000241310;OTTHUMP00000241311;divalent cation transporter 1;natural resistance-associated macrophage protein 2;solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2;solute carrier family 11 member 2 APPROVED protein-coding ENSG00000110911 HGNC:10908 02750 600523 REVIEWED 731943 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010] 15 15 15 q15-q21.1 25391005 25488781 + 48498498 48596275 + 48206301 48304078 + 1624188;1580863;6480464;7240710;8554872;8699517 8640224 11509477;11564973;12386165;12471046;12477932;12761241;14528028;14967834;15167446;15326289;16344560;16807401;16832045;17460608;17998760;18391953;18495801;18830715;19058262;19096086;19513753;19913121;20146722;20196086;20219833;20424473;20628086;20819979;21209010;21321328;21613606;21631963;21867980;22211456;22388656;22989884;23325410;23934736;24251329;7929272;8589530;9355073;9585600;9655365;9672238 6557 B4DPF4;H0YLJ2;H0YMG9;H0YNL0;H0YNW0;Q13621;Q8IUN5 AA917702;AB032525;AB032526;AB032527;ABBA01039141;AC023355;AC066612;AJ005332;AJ005333;AK129998;AK295375;AK298275;AK298312;AMYH02030388;BC040138;BX647067;BX647484;CH471082;CS223391;DA632985;EF559316;NG_021301;NM_000338;NM_001184832;U58130;XM_005254605;XM_005254606;XM_006720656 AAB07364;AAH40138;AAI48652;AAI56820;ABU69043;BAA84574;BAA84575;BAA84576;BAC85271;BAG58334;BAG60536;BAG60566;CAA06479;CAA06480;CAJ46935;EAW77344;EAW77345;EAW77346;NP_000329;NP_001171761;Q13621;XP_005254662;XP_005254663;XP_006720719 Hs.123116;Hs.605373 1336549 D15S1024 BSC1;MGC48843;NKCC2 NKCC2A variant A;Na-K-2Cl cotransporter;OTTHUMP00000162220;bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2;kidney-specific Na-K-Cl symporter;solute carrier family 12 (sodium/potassium/chloride transporters), member 1;solute carrier family 12 member 1;solute carrier family 12, member 1 APPROVED protein-coding ENSG00000074803 HGNC:10910 02908 600839;601678 REVIEWED 732816 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 5 5 5 q23.3 123551492 123657387 + 127419483 127525380 + 128083791 128189688 + 1580582;1580583;1580584;1580863;6480464;6907045;7349365;9587757 12535773;15020309;16227993;21814290;23827367 10736171;11042348;11700976;11943682;12054469;12355171;12477932;12657561;12740379;12946942;14563843;14982922;15280386;15347682;15899883;16196087;16222701;16669787;17255364;17478539;17721439;18032481;18391953;18400987;18550547;19023125;19199708;19240061;19523148;19686239;19916249;20044742;20061948;20379614;20442269;20471979;20732874;20819947;20819979;21139019;21139048;21613606;21847667;21890473;21906983;21963094;21987572;22053931;22178882;22437837;22570591;22643131;22939629;22989884;23000965;23139219;23224734;23317544;23515529;23894354;23921125;24173102;24339991;24451383;24555568;24583282;24797263;7629105;8663127;8889548;8895530;9672238 6558 B7ZM24;G3XAL9;P55011;Q53ZR1 AA425438;AA425619;AA843086;AB209192;ABBA01068871;AC008577;AC011332;AF439152;AI493213;AK025062;AMYH02012166;AMYH02012167;AMYH02012168;AV708692;AY280459;BC033003;BC144221;BC146839;BM978607;CH471062;NM_001046;NM_001256461;NR_046207;U30246;Z36839 AAC50561;AAI44222;AAI46840;AAL32454;AAP33906;BAD92429;EAW62392;EAW62393;EAW62394;NP_001037;NP_001243390;P55011 Hs.162585;Hs.712970 1708974;1780622;1780640;1780930;1798162;1857245;2118227;2123709;2133692;2144499;5022450;5022578;5037552 016YB7;A006Y26;D10S275;D1S1423;D8S2279;SGC32885;SGC35509;SHGC-79547;SLC12A2_2056;STS-N22107;bac51423S;bac51488T;bac5341T BSC;BSC2;MGC104233;NKCC1;PPP1R141 OTTHUMP00000159234;OTTHUMP00000223462;OTTHUMP00000223463;basolateral Na-K-Cl symporter;bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1;solute carrier family 12 (sodium/potassium/chloride transporters), member 2;solute carrier family 12 member 2;solute carrier family 12, member 2 APPROVED protein-coding ENSG00000064651 HGNC:10911 06775 600840 REVIEWED 736532 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 2 2 2 q35 213013369 213028238 + 219246752 219261617 + 218382029 218396894 + 1331525;1580863;5684951;5684952;5684937;5684939;5684966;5684967;5684936;5684944;5684950;5684957;5684960;5684948;5684956;5684971;5684972;5684943;5684974;5684976;5684962;6480464;5684926;5684940;5684977;5684925;5684975;5684929;5684928;5684941;5684932;5684949;5684968;5684970;5684961;5684934;5684931;5684930;5684938;5684942;5684955;5684969;7240710;8554872 10608779;10719815;10857800;11791966;11821237;11929588;12135431;12847242;14734525;14960532;15118671;15584484;15755200;15757519;15877293;16059695;16516037;16550170;16734634;17035062;17067929;17122779;17131479;17385031;17876529;18340647;18454481;18656410;18973068;18998137;19016783;19116231;19768110;19863441;20089160;21128323;21169917;21233146;21524304;22160516 10049947;10227396;10967134;11358358;11380946;11960304;12019922;12070036;12136340;12142377;12195379;12234138;12391841;12404162;12447767;12477932;12527228;12552460;12595908;12618857;12729343;12799146;12892615;14703493;14989712;15004750;15141734;15191519;15223010;15381817;15636493;15641099;15644277;15702130;15825023;15860357;15988535;16002921;16103355;16125248;16135804;16182589;16344560;16395392;16426236;16461017;16466030;16510578;16637265;16638645;16737570;16981342;17034726;17062442;17157384;17211726;17223386;17298451;17371589;17378896;17459898;17466092;17493019;17606764;17624216;17917676;17932044;17950034;17955444;18062835;18374540;18456389;18496987;18504650;18506362;18786141;19055603;19193106;19374813;19474129;19723394;19799071;19913121;20196868;20214763;20231985;20297661;20399512;20405176;20416077;20424473;20563497;20578522;20587610;20628086;20799037;21283567;21297633;21300803;21457666;21554230;21599885;21710855;21948377;22008758;22326178;22387151;22609013;22946062;23128233;23137204;23187734;23244274;23408448;23492997;23509347;23538334;23690404;24024195;7717395;7964458;7980580;8490962;8529098;8537108;9034150;9271100 6556 P49279;Q9HBK0 AB209650;ABBA01023871;AC021016;AF229163;AJ494846;AK294707;AK298667;AK303398;AK307954;AK310914;AK311405;AMYH02005791;BC033754;BC037550;BC041787;BC071165;CA307182;CH471063;D38171;D50402;D50403;DB284801;L32185;L38593;NG_012128;NM_000578;X82015;XM_005246793;XM_005246794;XM_006712709;XM_006712710;XM_006712711;XR_427107;XR_427108;XR_427109 AAA57521;AAA57556;AAA57557;AAG15403;AAG15405;AAH71165;BAA07370;BAA08907;BAA08908;BAD92887;BAG57862;BAG60835;BAG64454;CAA57541;CAD39201;EAW70611;EAW70612;EAW70613;EAW70614;NP_000569;P49279;XP_005246850;XP_005246851;XP_006712772;XP_006712773;XP_006712774 Hs.591607 1684353;2157972;5014039;5015619;5022322;5037552;5109281;5491993 D11S2560;D11S3114;D1S1425;D22S1584;D2S2821;D8S2279;RH80764;SLC11A1-1 LSH;NRAMP;NRAMP1 NRAMP 1;OTTHUMP00000109205;natural resistance-associated macrophage protein 1;solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1;solute carrier family 11 (sodium/phosphate symporters), member 1;solute carrier family 11 member 1 APPROVED protein-coding ENSG00000018280 HGNC:10907 02601 600266;607948;610446 REVIEWED 1351041 SLC10A7 solute carrier family 10, member 7 ENCODES a protein that exhibits symporter activity (inferred); INVOLVED IN sodium ion transport (inferred); transmembrane transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 4 4 4 q31.22 144494604 144763675 - 147175137 147443123 - 146253985 146521971 - 6480464;8554872 11076863;11230166;11256614;12477932;15489334;15489336;15932064;16344560;16381901;17628207;19240061;23583979;24159190 84068 Q0GE19 ABBA01070044;ABBA01070045;ABBA01070046;ABBA01070047;ABBA01070048;ABBA01070049;ABBA01070050;AC093863;AC106879;AK075364;AK126000;AK172727;AK291046;AL136728;AMYH02010262;AMYH02010263;AY346324;BC023288;BC063471;BC120970;BC120971;BC127626;BC127627;BC148252;BC150308;CH471056;CR933647;CR936751;DA590625;DB205503;DQ122860;DQ122861;DQ871036;NM_001029998;NM_001300842;NM_032128;XM_005263276 AAH23288;AAH63471;AAI20971;AAI20972;AAI27627;AAI27628;AAI46685;AAI48253;AAI50309;AAQ84722;AAZ32256;AAZ32257;ABI31650;ACE86574;ACE86578;ACE87257;ACE87263;BAC11571;BAF83735;BAG54274;CAB66662;CAI45948;CAL37739;EAX05026;NP_001025169;NP_001287771;NP_115504;Q0GE19;XP_005263333 Hs.659209 1664515;1695086;1708018;1727105;1776617;2149773 D4S1238;D4S655;D4S830;G62955;SHGC-81357;STS-N30034 C4orf13;DKFZp313H0531;DKFZp566M114;DKFZp779O2438;MGC25043;P7 Na(+)/bile acid cotransporter 7;OTTHUMP00000220218;OTTHUMP00000220219;OTTHUMP00000220221;OTTHUMP00000221097;SBF-domain containing protein;chromosome 4 open reading frame 13;sodium/bile acid cotransporter 7;solute carrier family 10 (sodium/bile acid cotransporter family), member 7;solute carrier family 10 member 7 APPROVED protein-coding ENSG00000120519 HGNC:23088 13177 611459 VALIDATED 1348814 SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7 ENCODES a protein that exhibits protein kinase binding; INVOLVED IN cell volume homeostasis (inferred); chloride transmembrane transport (inferred); chloride transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; diazinon 5 5 5 p15 1087603 1137533 - 1050489 1112172 - 1050374 1112057 - 1580863;6480464;8554872 10347194;10913127;11214971;11976689;12477932;12637262;14698746;14702039;15262997;15489334;17133354;18391953;18984587;19887603;20139978;20516068;20734064;21139048;21613606;21733850;21760919;21890473;21906983;21987572;23000965 10723 H0YB78;Q9Y666 ABBA01034217;ABBA01034218;AC116351;AC207062;AF105365;AK024493;AK024497;AK026625;AK302856;AL117433;AMYH02010760;BC007760;BC018982;BC098390;BU953746;CH471102;CQ859788;DB451347;NM_006598;XM_005248231;XM_006725006 AAD39741;AAH07760;AAH98390;BAB15783;BAB15787;BAG64042;CAB55921;CAH25944;EAX08178;EAX08179;EAX08180;EAX08181;NP_006589;Q9Y666;XP_005248288;XP_006725069 Hs.172613 1770034 RH11663 DKFZp434F076;KCC4 K-Cl cotransporter 4;OTTHUMP00000220873;electroneutral potassium-chloride cotransporter 4;potassium/chloride transporter KCC4;solute carrier family 12 (potassium/chloride transporters), member 7;solute carrier family 12 member 7 APPROVED protein-coding ENSG00000113504 HGNC:10915 09221 604879 VALIDATED 731044 SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008] 20 20 20 q13.12 41361790 41400248 + 44650329 44688789 + 46021690 46060150 + 1580863;6480464;8554872 10574461;11395011;11701957;11780052;12106695;12477932;12637262;12739168;14702039;15528236;15932617;16291749;16324114;16344560;17693402;17715129;18391953;18602983;18978678;19307176;19686239;20379614;20516068;20650312;21256718;21613606;21911617;22082832;22496567;23440186;23621303;23894354;8619474;9110174 57468 B7Z1X6;B7Z3T3;Q5VZ42;Q9H2X9;V9GYL3 AB033002;ABBA01052674;AF208159;AK055066;AK098371;AK289758;AK294059;AK295096;AK295900;AK296331;AL162458;AMYH02037156;BC036329;BC132668;BC132670;CH471077;DA102113;DC320473;KC295693;KC295694;KC295695;KC295698;KC295699;KC295700;KC295701;NM_001134771;NM_020708;U79245 AAG43493;AAI32669;AAI32671;AGH06150;AGH06151;AGH06152;AGH06155;AGH06156;AGH06157;AGH06158;BAA86490;BAF82447;BAH11662;BAH11972;BAH12216;BAH12319;EAW75771;EAW75772;EAW75773;NP_001128243;NP_065759;Q9H2X9 Hs.21413 1339302;1665733;1779626;1856156;2172186;2186984;5020615 D20S1037;D20S856;G65726;RH12005;RH78814;SHGC-153603;Z94533 KCC2;KIAA1176;hKCC2 K-Cl cotransporter 2;OTTHUMP00000031197;electroneutral potassium-chloride cotransporter 2;erythroid K-Cl cotransporter 2;neuronal K-Cl cotransporter;solute carrier family 12 member 5 APPROVED protein-coding ENSG00000124140 HGNC:13818 09469 606726 REVIEWED 1322734 SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008] 15 15 15 q13 11324764 11432905 - 34522197 34630265 - 34229996 34338064 - 1580594;1580863;6480464;7240710;8554872;8699517 16606917 10187864;10347194;10600773;11551954;12368912;12386165;12477932;12637262;12657561;14702039;15262997;16048901;16098236;17133354;17893295;18006853;18391953;18536702;18566107;19058789;19665974;20020398;20301546;21613606;21628467;21733850;21890473;21906983;21963094;21987572;22423107;24043619;24250222;24341143;24655550 9990 B3KXX3;H0YKE6;H0YKJ2;H0YKL8;H0YKQ8;H0YMQ9;H0YNJ5;Q6NSI7;Q9UHW9 ABBA01038539;ABBA01038540;ABBA01038541;ABBA01038542;AC021822;AC079203;AF105366;AF108831;AF116242;AF314931;AF314932;AF314933;AF314934;AF314935;AF314936;AF314937;AF314938;AF314939;AF314940;AF314941;AF314942;AF314943;AF314944;AF314945;AF314946;AF314947;AF314948;AF314949;AF314950;AF314951;AF314952;AF314953;AF314954;AF314955;AF314956;AF477977;AF531258;AF531259;AF531260;AK056019;AK128133;AK292550;AK315283;AL117500;AMYH02030158;AMYH02030159;AMYH02030160;BC033894;BC051709;BC051744;BC070107;BC126241;BC126243;BC150584;BX648195;CH471125;DQ138323;NG_007951;NM_001042494;NM_001042495;NM_001042496;NM_001042497;NM_005135;NM_133647;XM_006720793;XR_429476 AAD25337;AAD39742;AAF24986;AAH51744;AAH70107;AAI26242;AAI26244;AAI50585;AAL85335;AAM96215;AAM96216;AAQ10026;AAQ10027;AAQ10028;ABA02873;BAF85239;BAG37692;BAG54635;CAB55965;CAI46042;EAW92295;EAW92296;EAW92297;EAW92298;EAW92299;EAW92300;EAW92301;EAW92302;NP_001035959;NP_001035960;NP_001035961;NP_001035962;NP_005126;NP_598408;Q9UHW9;XP_006720856 Hs.510939 1655336;1687061;2115898;2144111;5015619;5015961;5016596;5021872;5037552 D11S3114;D15S1477;D8S2279;GDB:631802;RH46282;SHGC-53908;SHGC-57948;STS-M55683;sY3084 ACCPN;DKFZp434D2135;KCC3;KCC3A;KCC3B K-Cl cotransporter 3;OTTHUMP00000159813;electroneutral potassium-chloride cotransporter 3;potassium chloride cotransporter 3;potassium chloride cotransporter KCC3a-S3;potassium-chloride transporter-3a;potassium-chloride transporter-3b;solute carrier family 12 (potassium/chloride transporters), member 6;solute carrier family 12 member 6 APPROVED protein-coding ENSG00000140199 HGNC:10914 09220 218000;604878 REVIEWED 1345509 SLC12A8 solute carrier family 12, member 8 This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010] 3 3 3 q21.2 123208830 123340801 - 124801480 124931609 - 125082636 125212765 - 737840;6480464;8554872 11863360 12477932;12739168;16297188;16344560;19472210;20379614;23325410;7566098 84561 A0AV02;C9IZN2;H7C5B1;H7C5L2 AA331231;AA593021;ABBA01016427;ABBA01016428;ABBA01016429;ABBA01016430;AC055752;AC108688;AC117488;AF345197;AF389851;AF390442;AK026841;AK123001;AK308484;AMYH02007569;AMYH02007570;AMYH02007571;AMYH02007572;AMYH02007573;BC020506;BC063528;BC126158;BC126160;BG149722;BX538023;CH471052;CR457363;DA858738;KF459585;NG_027706;NM_001195483;NM_024628 A0AV02;AAH20506;AAH63528;AAI26159;AAI26161;AAK94307;AAM73657;AAO49174;ADR83103;BAB15571;BAG53843;CAD97969;CAG33644;EAW79399;EAW79400;NP_001182412;NP_078904 Hs.658514 1334773;1338556;1338933;1342363;1662267;1728481;1759457;1766963;1779274;1779764;2127746;2161148;2171752;5015861;5017227;5093704;7183415;7185938 A009V17;D10S16;D3S1551;D3S3569;D3S3573;D3S3636;G32875;G38154;G63678;RH48858;SHGC-151007;SHGC-151248;SHGC-152496;SHGC-153741;SHGC-58257;SHGC-77287 CCC9;DKFZp686L18248;FLJ23188 OTTHUMP00000215536;OTTHUMP00000215625;cation-chloride cotransporter 9;solute carrier family 12 (potassium/chloride transporters), member 8;solute carrier family 12 (sodium/potassium/chloride transporters), member 8;solute carrier family 12 member 8 APPROVED protein-coding ENSG00000221955 HGNC:15595 11563 611316 REVIEWED 736767 SLC12A4 solute carrier family 12 (potassium/chloride transporter), member 4 This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 16 16 16 q22.1 52485834 52511054 - 67977377 68002597 - 67943474 67968694 - 729801;1580863;6480464;8554872 8663127 10564083;11551954;12477932;12637262;12739168;12902337;14702039;14976052;15039017;15231748;15262997;15489334;16943364;17897319;18391953;19317253;19913121;20602615;20628086;21139048;21613606;21666489;21733850;21890473;21906983;21963094;21987572;22939629;23000965;23177987;23503679;8268911;9516379 6560 B4DF30;I3L1N8;I3L4N6;J3QKM4;J3QRE2;J3QSF2;Q9UP95 ABBA01025467;ABBA01025468;AC040162;AF047338;AF053402;AF054505;AF054506;AI368074;AK026911;AK097808;AK293906;AK293956;AK299042;AK302790;AK310027;AK311073;AK316415;AMYH02032244;AY026038;AY211326;BC021193;BC035480;CF272417;CH471092;DC321966;DC333904;DC402650;NG_033098;NM_001145961;NM_001145962;NM_001145963;NM_001145964;NM_005072;U55054 AAC32815;AAC35282;AAC39684;AAC39685;AAC50563;AAH21193;AAK01946;AAO83657;ABM83180;ABM86383;BAG53532;BAG57291;BAG57330;BAG61116;BAG63994;BAH14786;EAW83191;EAW83192;EAW83193;EAW83194;EAW83195;EAW83196;NP_001139433;NP_001139434;NP_001139435;NP_001139436;NP_005063;Q9UP95 Hs.10094 1677604;1776732;1798164;2131133;2152975;5017528;5020635;5021682;5120955 D7S3207;RH44404;RH70236;RH70676;RH77895;RH79953;SLC12A4;SLC12A4_2007;ksks15 FLJ17069;FLJ40489;KCC1;hKCC1 CTC-479C5.17;K-Cl cotransporter;OTTHUMP00000174837;electroneutral potassium-chloride cotransporter 1;erythroid K-Cl cotransporter 1;erythroid K:Cl cotransporter;potassium/chloride cotransporter 1;solute carrier family 12 (potassium/chloride transporters), member 4;solute carrier family 12 member 4;solute carrier family 12, member 4 APPROVED protein-coding ENSG00000124067 HGNC:10913 04987 604119 REVIEWED 733325 SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q13 41398377 41450052 + 56899119 56949762 + 56865207 56915850 + 1580586;1580587;1580588;1580589;1580863;6480464;7240710;8554872;8699517 15480096;15824464;15956070;16221718 11076863;11564973;11832422;11893344;12477932;12515852;12686679;14578305;14655226;14675033;14766743;15069170;15102966;15309683;15915338;16505253;16688122;16887815;17159356;17329572;17460608;17653210;17654016;17873326;17885550;17954289;17975670;17981812;17997379;18067089;18263927;18270262;18287808;18362449;18391953;18469313;18496130;18580052;19033254;19056867;19207868;19420906;19451210;19489442;19668106;19779464;19875813;19913121;20031564;20379614;20628086;20675610;20889219;21051746;21161146;21164023;21196779;21415153;21613606;21631963;21644207;21644212;21753071;21852580;21987572;22009145;22027832;22406640;22568564;22627394;22679066;23079845;23156397;23482560;23505323;23833262;24026181;24668812;8125298;8528245;8670281;8812482;8954067;9596079 6559 J3QSS1;P55017 ABBA01025252;ABBA01025253;AC012181;AK223133;AK315298;AMYH02032094;AMYH02032095;AMYH02032096;AMYH02032097;BF510426;CH471092;NG_009386;NM_000339;NM_001126107;NM_001126108;U44128;X91220;XM_005256119 AAC50355;AAI11851;CAA62613;EAW82888;EAW82889;EAW82890;EAW82891;NP_000330;NP_001119579;NP_001119580;P55017;XP_005256176 Hs.669115 1770723;5095886 RH70938;STS-X91220 FLJ96318;NCC;NCCT;TSC Na-Cl cotransporter;Na-Cl symporter;NaCl electroneutral thiazide-sensitive cotransporter;OTTHUMP00000164385;solute carrier family 12 (sodium/chloride transporters), member 3;solute carrier family 12 member 3;solute carrier family 12, member 3;thiazide-sensitive Na-Cl cotransporter;thiazide-sensitive sodium-chloride cotransporter APPROVED protein-coding ENSG00000070915 HGNC:10912 02984 263800;600968 REVIEWED 1347947 SLC12A9 solute carrier family 12, member 9 ENCODES a protein that exhibits cation:chloride symporter activity (inferred); INVOLVED IN chloride transmembrane transport (inferred); chloride transport (inferred); transmembrane transport (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH hydrogen peroxide; menadione; theophylline 7 7 7 q22 95180919 95195211 + 100450337 100464634 + 100835456 100867012 + 6480464 10871601;11060040;11239002;12477932;12690205;14702039;16344560;19056867;20639392;21139048;21347282;21890473;21906983;22990020;23325410 56996 C9J0I5;C9JBD8;C9JMQ7;D6W5X3;F8WEK3;Q9BXP2;Q9H7I6 AA825567;AB033284;ABBA01013177;AC011895;AF284422;AF312032;AK024420;AK024421;AK024466;AK024494;AK026624;AK090458;AK128873;AK301411;AMYH02016392;BC000154;BG818005;BI554206;BM921877;BU625109;CA488831;CH236956;CH471091;DA816969;DA982886;NM_001267812;NM_001267814;NM_020246;XM_005250502;XM_005250503;XM_005250504;XM_006716054;XM_006716055;XM_006716056;XM_006716057;XM_006716058;XM_006716059 AAF88060;AAH00154;AAK21008;AAK21009;BAB15710;BAB15711;BAB15756;BAB15784;BAB40456;BAC03439;BAH13476;EAL23818;EAW76475;EAW76476;EAW76477;EAW76478;EAW76479;EAW76480;EAW76481;EAW76482;EAW76483;EAW76484;EAW76485;EAW76486;NP_001254741;NP_001254743;NP_064631;Q9BXP2;XP_005250559;XP_005250560;XP_005250561;XP_006716117;XP_006716118;XP_006716119;XP_006716120;XP_006716121;XP_006716122 Hs.521087 1659990;5014063;5015861;5022200;5022578;5022651;5037552;5112143;7185938 D10S16;D11S2921;D15S1390;D1S1423;D7S2888;D8S2279;L18426;RH101934 CCC6;CIP1;FLJ46905;WO3.3;hCCC6;hCIP1 CCC-interacting protein 1;OTTHUMP00000209114;OTTHUMP00000209115;cation-chloride cotransporter 6;cation-chloride cotransporter-interacting protein 1;potassium-chloride transporter 9;solute carrier family 12 (potassium/chloride transporters), member 9;solute carrier family 12 member 9 APPROVED protein-coding ENSG00000146828 HGNC:17435 11564 VALIDATED 1351292 SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] 17 17 17 p13.1 6613818 6642517 - 6588038 6616886 - 6684713 6713421 - 6480464;8699517;8554872 12445824;12477932;12826022;12915942;14702039;15489334;16211368;16344560;16973915;17395152;18194662;18826381;20379614;21156036;21264516;21873665;22566634;23177988;23506872;24114175;24222346;24995870 284111 I3L2Y7;I3L424;I3L4S9;I3L4V4;I3L4X6;K7END6;Q68D44;Q86YT5 ABBA01054838;AC004706;AJ489980;AK124317;AK127797;AK131206;AK172779;AK172785;AK297612;AMYH02032876;AY151833;BC104795;BC112151;BC143689;BX647354;CH471108;CR749584;DA187094;H29568;NG_034220;NM_001143838;NM_001284509;NM_001284510;NM_177550;XM_006721504 AAI04796;AAI12152;AAI43690;AAN86530;BAD18760;BAD18766;BAG54572;BAH12628;CAD34590;CAH18382;EAW90292;EAW90293;EAW90294;EAW90295;NP_001137310;NP_001271438;NP_001271439;NP_808218;Q86YT5;XP_006721567 Hs.399496 1688016;2131789;2189387;5022651 D11S2921;MARC_3679-3680:991937315:1;RH46267;WI-18574 DKFZp686E17257;EIEE25;MGC138356;NACT Na(+)/citrate cotransporter;OTTHUMP00000128226;mIndy;sodium-coupled citrate transporter;sodium-dependent citrate transporter;sodium-dependent dicarboxylate transporter;solute carrier family 13 member 5;solute carrier family 13, member 5 APPROVED protein-coding ENSG00000141485 HGNC:23089 10512 608305;615905 REVIEWED 736607 SLC13A2 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 ENCODES a protein that exhibits low-affinity sodium:dicarboxylate symporter activity (inferred); transporter activity (inferred); INVOLVED IN dicarboxylic acid transport (inferred); sodium ion transport (inferred); transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; citric acid; diethylene glycol 17 17 17 p13.2 23659792 23683926 + 26800664 26824799 + 28473646 28497781 + 1580863;6480464;8554872 10343111;12445824;12477932;14702039;15489334;15620109;15774465;16211368;16344560;17470169;18161988;19056867;20424473;20610529;21257749;8967342 9058 F5GWV6;J3QLA5;J3QR70;Q13183 ABBA01015054;ABBA01015055;AC015917;AK091926;AK298388;AK303909;AK303936;AK314684;AMYH02033223;AW024214;BC096276;BC096277;BC096278;BC096279;CH471159;DB204108;DB320886;NM_001145975;NM_003984;NR_027384;U26209;XM_006722165 AAA98504;AAH96276;AAH96277;AAH96278;AAH96279;BAG37236;BAG52442;BAG60623;BAG64838;BAG64864;EAW51090;EAW51091;NP_001139447;NP_003975;Q13183;XP_006722228 Hs.102307 1679505 RH71217 NADC1;NaCT;NaDC-1;SDCT1 Na(+)-coupled citrate transporter;Na(+)/dicarboxylate cotransporter 1;OTTHUMP00000163347;renal sodium/dicarboxylate cotransporter;solute carrier family 13 member 2 protein-coding ENSG00000007216 HGNC:10917 09164 604148 VALIDATED 8695750 SLC14A2-AS1 SLC14A2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 18 18 q12.3 43003758 43084003 - 45423767 45504011 - 8554872 101927980 AA868102;ABBA01022339;ABBA01022340;AC021517;AK126075;AMYH02034647;AMYH02034648;BX109976;CD357906;HG509964;HG509965;HG509967;HY036726;KF456392;NR_110899;XR_424904;XR_424905;XR_424906;XR_430099;XR_430100;XR_430101;XR_433483;XR_433484;XR_433485 Hs.591058;Hs.652044;Hs.662616;Hs.742925 ncrna HGNC:51125 VALIDATED 1345589 SLC13A4 solute carrier family 13 (sodium/sulfate symporter), member 4 ENCODES a protein that exhibits sodium:sulfate symporter activity (inferred); transporter activity (inferred); INVOLVED IN sodium ion transmembrane transport (inferred); sodium ion transport (inferred); sulfate transport (inferred); FOUND IN integral component of plasma membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH amiodarone; exemestane; valproic acid 7 7 7 q33 130103444 130150391 - 135365979 135412943 - 135681231 135728195 - 1580863;6480464 10535998;12477932;12690205;15607730;16211368;20379614;23453247;23485456 26266 Q59HF0;Q9UKG4;V9GYC7;V9GZ66 AB208809;ABBA01001125;ABBA01001126;AC091736;AF169301;AK313072;AMYH02016822;AMYH02016823;AMYH02016824;BC030689;BC040872;CH236950;CH471070;NM_012450;XM_005250261;XM_005250262 AAF05907;AAH30689;ABM84484;ABM84966;BAD92046;EAL24058;EAW83857;EAW83858;NP_036582;Q9UKG4;XP_005250318;XP_005250319 Hs.200022;Hs.490241 1663452;1688905;1857879;2133808;2160915;5016781;5092712 A005R34;D7S2118E;D7S2867;G32281;RH46984;RH92554;SHGC-67307 SUT-1;SUT1;naS2 Na(+)/sulfate cotransporter SUT-1;OTTHUMP00000208203;solute carrier family 13 (sodium/sulfate symporters), member 4;solute carrier family 13 (sodium/sulphate symporters), member 4;solute carrier family 13 member 4;sulphate transporter 1 APPROVED protein-coding ENSG00000164707 HGNC:15827 10372 604309 VALIDATED 1354455 SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group) The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009] 18 18 18 q11-q12 40112419 40140815 + 43304088 43332485 + 45723875 45752520 + 1580863;6480464;8554872 10514515;10644814;10942407;11435423;11807016;11841450;11852461;12093813;12477932;14702039;14985236;15754970;15783300;16344560;18067501;18510579;18713105;18997004;19175544;19865084;19926813;20379614;20424473;20431033;20560530;21309779;21750109;21824976;22223368;22733730;22738189;23486518;23552862;23710545;23754249;23898208;2890568;7797558;7989337;8573795;8647271;9215669;9582331;9734652 6563 B3KXJ3;B4DFJ8;E9NSU1;F5GWS2;G0W2N5;K7EJ54;K7EJF6;K7EKN6;K7ELI3;K7EQM7;K7ESL3;M0QX00;M0QYS8;Q13336 ABBA01022335;AC023421;AF046026;AF328890;AF328892;AJ316564;AK091064;AK123681;AK127452;AK289608;AK294129;AK295268;AMYH02034649;AU134365;AV724913;AY942197;BC040128;BC050539;CH471088;DA051199;DA134800;DA186606;DA473671;GQ502682;HE577851;HQ709264;KC677694;L36121;NG_011775;NM_001128588;NM_001146036;NM_001146037;NM_015865;U35735;XM_005258329;XM_005258332;XM_005258333;XM_006722526;Y19039 AAB00181;AAC69610;AAH50539;AAL37474;AAX20112;ACV91713;ADW41579;AGN03946;BAF82297;BAG52274;BAG53935;BAG54505;BAG57459;BAG58255;CAB60834;CAC86943;CCD04138;EAX01458;EAX01459;NP_001122060;NP_001139508;NP_001139509;NP_056949;Q13336;XP_005258386;XP_005258389;XP_005258390;XP_006722589 Hs.101307 1721277;1734544;1756615;1849562;2181091;5094232 D18S899E;G54655;G59635;RH16293;SHGC-143656;SHGC-32575 FLJ33745;FLJ41687;HUT11;HsT1341;JK;RACH1;RACH2;UT-B1;UT1;UTE Kidd blood group;OTTHUMP00000163453;SLC14A1 JK;blood group Kidd urea transporter;solute carrier family 14 member 1;truncated urea transporter;urea transporter 1;urea transporter JK glycoprotein;urea transporter, erythrocyte;urea transporter-B1 APPROVED protein-coding ENSG00000141469 HGNC:10918 00195 111000;613868 REVIEWED 731952 SLC14A2 solute carrier family 14 (urea transporter), member 2 The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011] 18 18 18 q12.1-q21.1 40003033 40071376 + 42792947 43263072 + 45212982 45683107 + 1580863;6480464;8554872 11399654;11502588;11590132;12477932;12952854;15189812;16344560;16480766;17264986;17344938;17702749;19260141;20139978;20379614;20797394;21102462;21909109;22693459;22797727;7989337;8647271 8170 E7EPU1;Q15849 ABBA01022336;ABBA01022337;ABBA01022338;ABBA01022339;ABBA01022340;AC021517;AC021810;AC023421;AC090376;AC091151;AF349446;AK074236;AK122698;AK292422;AMYH02034644;AMYH02034645;AMYH02034646;AMYH02034647;AMYH02034648;AMYH02034649;BC110445;BC110446;CH471088;DB045789;DR002593;KF456392;KF456398;NM_001242692;NM_007163 AAI10447;AAL08485;BAB85026;BAF85111;EAX01454;EAX01455;NP_001229621;NP_009094;Q15849 Hs.710927 1671860;1779568;1779958;1783674;1783706;5015619;5021872;5021984;5022200;5037552 D11S3114;D8S2279;L18426;RH66547;SHGC-144943;SHGC-153540;SHGC-154202;SHGC-154458;contig_177348;sY3084 FLJ16167;HUT2;MGC119566;MGC119567;UT-A2;UT2;UTA;UTR;hUT-A6 OTTHUMP00000163451;solute carrier family 14 member 2;solute carrier family 14, member 2;urea transporter 2;urea transporter, kidney;urea transporter-2 APPROVED protein-coding ENSG00000132874 HGNC:10919 03366 601611 VALIDATED 1346909 SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1 ENCODES a protein that exhibits sodium:sulfate symporter activity (inferred); transporter activity (inferred); INVOLVED IN sodium ion transmembrane transport (inferred); sodium ion transport (inferred); sulfate transmembrane transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH arsenite(3-); paracetamol; zinc atom 7 7 7 q31.32 117558028 117644480 - 122753588 122840025 - 123113534 123199971 - 1580863;6480464;8554872 11161786;12477932;12690205;12853948;12857732;12867358;14702039;16211368;19401682;20670164;23648065 6561 A4D0X1;F5GYP1;F8WEH1;F8WEM4;Q9BZW2 ABBA01057738;ABBA01057739;AC073054;AC091319;AF260824;AI209074;AI469201;AK026413;AK314537;AMYH02016679;BC111775;CH236947;CH471070;NM_022444 AAG60583;AAI11776;AAI40318;AAI48687;AAS01993;AAS01997;BAB15477;BAG37127;EAL24337;EAW83582;NP_071889;Q9BZW2 Hs.489849 1337001;1699692;1796776;2161169;7186729 D7S490;RH103451;SLC13A1_743;WI-10596 NAS1;NaSi-1 Na(+)/sulfate cotransporter;OTTHUMP00000211446;hNaSi-1;renal sodium/sulfate cotransporter;solute carrier family 13 (sodium/sulfate symporters), member 1;solute carrier family 13 (sodium/sulphate symporters), member 1;solute carrier family 13 member 1 APPROVED protein-coding ENSG00000081800 HGNC:10916 08394 606193 VALIDATED 733038 SLC15A4 solute carrier family 15 (oligopeptide transporter), member 4 ENCODES a protein that exhibits L-histidine transmembrane transporter activity (inferred); symporter activity (inferred); transporter activity (inferred); INVOLVED IN histidine transport (inferred); ion transport (inferred); oligopeptide transport (inferred); FOUND IN integral component of membrane (inferred); lysosomal membrane (inferred); membrane (inferred); INTERACTS WITH (-)-demecolcine; 2-methylcholine; cadmium atom 12 12 12 q24.32 128891861 128922740 - 129277739 129308541 - 128793194 128823996 - 1580863;6480464 11741232;12477932;12905028;14702039;16289537;18259684;19838193;20379614;20516000;21366347;21693764;21890473;21906983;21963094;22505724;22950754;23000965;23273568;23362303;23864651 121260 B6ZDF2;H7BYB7;Q8N697 ABBA01019769;AC108704;AF461893;AK095717;AMYH02027529;AMYH02027530;AY038999;AY050629;BC028394;BC146803;CH471054;NM_145648;XR_429081;XR_429082;XR_429083 AAH28394;AAI46804;AAK72099;AAK95565;AAQ04807;BAG53113;EAW98494;EAW98495;NP_663623;Q8N697 Hs.507260 1697604;1848819;2140427 RH102313;SGC30248;SGC31722 FP12591;PHT1;PTR4;hPHT1 OTTHUMP00000238743;peptide transporter 4;peptide-histidine transporter 4;peptide/histidine transporter;peptide/histidine transporter 1;solute carrier family 15 member 4;solute carrier family 15, member 4 APPROVED protein-coding ENSG00000139370 HGNC:23090 615806 VALIDATED 2302456 SLC15A5 solute carrier family 15, member 5 ENCODES a protein that exhibits symporter activity (inferred); INVOLVED IN peptide transport (inferred); protein transport (inferred); transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-acetamidofluorene (ortholog); ketamine (ortholog); N-nitrosodiethylamine (ortholog) 12 12 12 p12.3 21486383 21574381 - 16341419 16430619 - 16188485 16277685 - 6480464 16541075;21044875;22589738 729025 A6NIM6 ABBA01067897;AC073574;AMYH02026105;NM_001170798 A6NIM6;NP_001164269 Hs.692712 1725893;2114972 G62282;RH65784 OTTHUMP00000239482;Peptide/histidine transporter ENSP00000340402;solute carrier family 15 member 5 protein-coding ENSG00000188991 HGNC:33455 PROVISIONAL 730868 SLC15A1 solute carrier family 15 (oligopeptide transporter), member 1 This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010] 13 13 13 q32.3 80179729 80248593 - 99336055 99404929 - 98683801 98752675 - 1580863;6480464;8554872 11897620;11944083;12477932;12548404;12649372;12679938;12788085;12905028;14532279;14561585;14725353;15057823;15489334;15521010;15553237;15623827;15802293;15832502;15832510;15974593;15981923;16181611;16198124;16253763;16283203;16328452;16568107;16627568;16963449;17009102;17407174;17562024;18028524;18094991;18336632;18466105;18668438;18713951;19144638;19246733;19343046;19389806;19439487;19462432;19549526;19685173;20067523;20104847;20379614;20424473;20430871;20558765;21030610;21366347;21762661;22610502;22779445;22950754;22959800;23494121;23660505;23934551;23993855;24380877;7592745;7896779;9115234;9207295;9299407;9458100;9508831 6564 B2CQT6;P46059;Q9BZ22 AB001328;ABBA01027134;ABBA01027135;ABBA01027136;AF043233;AL353574;AL391670;AL708816;AMYH02028580;AW449979;AY634368;BC096327;BC096328;BC096329;BC099651;CH471085;CU445953;EU544224;NG_017032;NM_005073;U13173;U21936 AAA63797;AAB61693;AAC15477;AAH96327;AAH96328;AAH96329;AAT48121;ACB71122;BAA22632;EAX08991;EAX08992;EAX08993;NP_005064;P46059 Hs.436893 1737467;1758053;1769035;1792214;1792216;1792218;1792220;1792222;1792224;1792226;1792228;1792236;1792244;1792246;1792248;1792250;1792252;1792254;1792256;1796778;5022200;5037552 D13S1019;D8S2279;L18426;PMC140024P1;PMC140024P10;PMC140024P11;PMC140024P12;PMC140024P13;PMC140024P14;PMC140024P15;PMC140024P16;PMC140024P2;PMC140024P3;PMC140024P4;PMC140024P5;PMC140024P6;PMC140024P7;PMC140024P8;PMC140024P9;RH70582;SHGC-147222;SLC15A1_722 HPECT1;HPEPT1;PEPT1 Caco-2 oligopeptide transporter;OTTHUMP00000018599;intestinal H+/peptide cotransporter;macrophage oligopeptide transporter PEPT1;oligopeptide transporter, small intestine isoform;peptide transporter 1;solute carrier family 15 member 1 APPROVED protein-coding ENSG00000088386 HGNC:10920 02768 600544 REVIEWED 69657 SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41897908 42024605 - 45186462 45313124 - 46557823 46684485 - 1580863;6480464;8554872 10794676;10992006;11780052;12477932;12915942;14702039;15146197;15342556;15489334;15561973;16211368;16331647;16344560;18029348;18602983;19056867;20813124;21865262;21873665;24247155;24351856 64849 B4DF27;B4E181;C9J4A3;C9J7L4;H7C0C8;Q8WWT9;X6RDV4 ABBA01052680;ABBA01052681;ABBA01052682;ABBA01052683;AF154121;AK023307;AK056713;AK096658;AK123351;AK293902;AK295748;AK303709;AK310767;AK310960;AK315131;AL034424;AL133520;AL442082;AMYH02037161;AY072810;BC014931;BC035966;BM474324;BP358260;BQ946167;CB997336;CH471077;CN310376;DA272524;DA334816;DA503319;DA636764;KF495758;NM_001011554;NM_001193339;NM_001193340;NM_001193342;NM_022829 AAF73251;AAH35966;AAL66762;ABM83581;ABM86820;BAB71262;BAC04834;BAG57288;BAG58580;BAG64693;CAC09447;EAW75725;EAW75726;NP_001011554;NP_001180268;NP_001180269;NP_001180271;NP_073740;Q8WWT9 Hs.655498;Hs.670365 1341518;1685780;1688267;1694636;1759653;2116771;2126246;2129400;2136607;2143404;2149018;2153107;2153292;2179668;2180943;2186822 A004V36;AFMB305XD9;AL031467;D20S1114;D20S565E;D20S577E;D20S886;D20S957;G27374;G43492;RH45751;RH66073;RH79978;RH98928;SHGC-150948;WI-14322 NADC3;SDCT2;hNaDC3;naDC-3 Na(+)/dicarboxylate cotransporter 3;OTTHUMP00000031667;OTTHUMP00000214796;OTTHUMP00000214797;OTTHUMP00000214798;sodium-dependent high affinity dicarboxylate transporter 3;sodium-dependent high-affinity dicarboxylate transporter 2;solute carrier family 13 member 3 APPROVED protein-coding ENSG00000158296 HGNC:14430 10450 606411 REVIEWED 1348958 SLC15A3 solute carrier family 15 (oligopeptide transporter), member 3 ENCODES a protein that exhibits symporter activity (inferred); transporter activity (inferred); INVOLVED IN ion transport (inferred); peptide transport (inferred); protein transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN lysosomal membrane; INTERACTS WITH benzene; benzo[a]pyrene; hydroquinone O-beta-D-glucopyranoside 11 11 11 q12.2 58065442 58080124 - 60704555 60719257 - 60937083 60951785 - 633591;1580863;6480464;8554872 11336635 11741232;12477932;12905028;17897319;21103663;21366347;8889548 51296 F5GZ36;F5H1C8;F5H251;H0YFC1;H0YG40;Q8IY34 AB020598;ABBA01021517;AF135600;AK127216;AMYH02024876;AP003721;BC025710;BC037974;BU731752;CH471076;KF459539;NM_016582;NR_027391 AAH25710;AAH37974;AAQ13565;BAA93432;EAW73915;EAW73916;NP_057666;Q8IY34 Hs.237856 1754431;1853099;1853101;2111222 D11S1383;SHGC-132491;SHGC-33247;SHGC-36506 FLJ26631;OCTP;PHT2;PTR3 OTTHUMP00000236906;OTTHUMP00000236907;osteoclast transporter;peptide transporter 3;peptide/histidine transporter 2;solute carrier family 15 member 3;solute carrier family 15, member 3 APPROVED protein-coding ENSG00000110446 HGNC:18068 11565 610408 VALIDATED 736402 SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2 This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010] 13 13 13 q33 84540839 84563679 - 103696348 103719196 - 103043998 103066846 - 1624186;1580863;6480464;6907045;7240710;8699517;8554872 9109432 11396803;11535543;11589382;11742882;12055195;12220224;12364586;12477932;15057823;15239098;15304498;15350125;15952798;16230354;16237211;16411770;16541252;16749855;16749860;16899538;17942302;17960397;18028035;18063707;18311924;18508772;18644122;18668439;18688880;19184108;19653651;19823678;20056894;20201924;20346360;20453000;20600720;20616306;21341987;21526375;21646357;21649730;21829377;22016432;22093174;22403793;22669917;22960999;24045943;24498857;7592981;8661017;9458785 6555 Q12908 ABBA01027068;AE014294;AL161771;AMYH02028628;BC130521;BC130523;CH471085;NG_016648;NM_000452;U10417;U67674;Z54350 AAC51870;AAC95398;AAI30522;AAI30524;AAN16026;ADR82931;CAA91161;EAX09074;NP_000443;Q12908 Hs.194783 1648809;1678101;1680435;1796772;2190129 99-62677;RH70986;RH93919;RH98835;SLC10A2_737 ASBT;IBAT;ISBT;NTCP2;PBAM Na(+)-dependent ileal bile acid transporter;OTTHUMP00000018682;ileal apical sodium-dependent bile acid transporter;ileal sodium-dependent bile acid transporter;ileal sodium/bile acid cotransporter;sodium/taurocholate cotransporting polypeptide, ileal;solute carrier family 10 (sodium/bile acid cotransporter family), member 2;solute carrier family 10, member 2 APPROVED protein-coding ENSG00000125255 HGNC:10906 03189 601295;613291 REVIEWED 1322416 SLC16A11 solute carrier family 16, member 11 ENCODES a protein that exhibits symporter activity (inferred); INVOLVED IN lipid metabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum membrane; INTERACTS WITH disodium selenite; fonofos; parathion 17 17 17 p13.1 6970509 6972802 - 6944949 6947242 - 7041630 7043923 - 1580863;6480464;8554872 12477932;12739169;16303743;24390345 162515 C9JRM8;I3L431;Q8NCK7 ABBA01054846;AC040977;AK074674;AMYH02032883;BC093860;BC093886;BC143369;CH471108;CQ783564;NM_153357;XM_005256488 AAH93860;AAH93886;BAC11128;CAF86732;EAW90268;EAW90269;EAW90270;NP_699188;Q8NCK7;XP_005256545 Hs.336564 FLJ90193;MCT 11;MCT11 OTTHUMP00000128280;monocarboxylate transporter 11;monocarboxylic acid transporter 11;solute carrier family 16 (monocarboxylic acid transporters), member 11;solute carrier family 16 member 11 APPROVED protein-coding ENSG00000174326 HGNC:23093 11567 615765 VALIDATED 8699127 SLC16A12-AS1 SLC16A12 antisense RNA 1 10 10 q23.31 91215748 91227897 + 89455991 89468140 + 16344560 101926906 ABBA01021948;AL353146;AMYH02023510;BX089497;DB088249;HG503131;NR_120614;XR_246157;XR_247573;XR_252787 Hs.568874 ncrna ENSG00000234452 HGNC:51205 VALIDATED 731699 SLC15A2 solute carrier family 15 (oligopeptide transporter), member 2 The mammalian kidney expresses a proton-coupled peptide transporter that is responsible for the absorption of small peptides, as well as beta-lactam antibiotics and other peptide-like drugs, from the tubular filtrate. This transporter, SLC15A2, belongs to the same gene family as SLC15A1 (MIM 600544), the proton-coupled peptide transporter found in the small intestine (Liu et al, 1995 [PubMed 7756356]).[supplied by OMIM, Feb 2011] 3 3 3 q13.33 120023021 120072858 + 121613171 121663034 + 121894324 121944187 + 1580863;6480464;8554872 11944083;12388627;12477932;12579467;12905028;14702039;15020234;15282265;15553237;15626774;15981923;16738539;18367661;18474668;18668438;18713951;18762712;18766334;19056867;19240061;19246733;19343046;19723536;19898482;20067523;20173083;20406817;20424473;20868728;21327641;21366347;21833088;22950754;23934551;7756356;8889548 6565 C9IZ38;Q16348 ABBA01016475;ABBA01016476;AC072031;AK090726;AK289820;AK296895;AK302002;AK304189;AMYH02007533;AMYH02007534;BC020743;BC038445;BC044572;CB242692;CH471052;DC418197;NM_001145998;NM_021082;S78203;XM_005247722;XM_005247723;XM_006713736 AAB34388;AAH20743;AAH44572;BAF82509;BAG59454;BAG63405;BAG65069;EAW79496;NP_001139470;NP_066568;Q16348;XP_005247779;XP_005247780;XP_006713799 Hs.518089 1660463;1764217;1784820;1852543;2175110;2187026;5017227;5022578 D1S1423;D3S3498;G38154;RH12677;SHGC-147851;SHGC-155332;SHGC-63664;SHGC-77261 FLJ33407;PEPT2 OTTHUMP00000215240;OTTHUMP00000215241;kidney H(+)/peptide cotransporter;oligopeptide transporter, kidney isoform;peptide transporter 2;solute carrier family 15 (H+/peptide transporter), member 2;solute carrier family 15 member 2 APPROVED protein-coding ENSG00000163406 HGNC:10921 09088 602339 VALIDATED 1606094 SLC16A12 solute carrier family 16, member 12 This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010] 10 10 10 q23.31 84936860 85042126 - 91190051 91295497 - 89430294 89535556 - 6480464;7240710;8699517;8554872 12477932;12739169;16385451;18304496;20181839;23578822 387700 E9PPP4;E9PSF9;Q6ZSM3 ABBA01021946;ABBA01021947;ABBA01021948;AK124901;AK127303;AL353146;AL355342;AMYH02023510;BC086873;CB068043;CH471066;CR936657;NG_021179;NM_213606 AAH86873;AAI72347;BAC85987;BAC86925;EAW50134;NP_998771;Q6ZSM3 Hs.530338 1341921;1658018;1738033;1782100 D10S1143;D11S3652;G17552;SHGC-154739 CJMG;DKFZp686E188;MCT12 OTTHUMP00000020064;monocarboxylate transporter 12;monocarboxylic acid transporter 12;solute carrier family 16, member 12 (monocarboxylic acid transporter 12) APPROVED protein-coding ENSG00000152779 HGNC:23094 17365 611910;612018 VALIDATED 1354212 SLC16A13 solute carrier family 16, member 13 ENCODES a protein that exhibits symporter activity (inferred); INVOLVED IN transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; diazinon 17 17 17 p13.1 6964936 6968991 + 6939394 6943440 + 7036075 7040121 + 6480464;8554872 12477932;12739169;21906983;23945395;24250222;24390345 201232 Q7RTY0 ABBA01054846;AC040977;AMYH02032882;BC109286;BC131739;BC142618;BN000145;CH471108;NM_201566 AAI09287;AAI31740;AAI42619;CAD80156;EAW90272;NP_963860;Q7RTY0 Hs.448010 MCT 13;MCT13 OTTHUMP00000128282;monocarboxylate transporter 13;monocarboxylic acid transporter 13;solute carrier family 16 (monocarboxylic acid transporters), member 13;solute carrier family 16 member 13;solute carrier family 16, member 13 (monocarboxylic acid transporter 13) APPROVED protein-coding ENSG00000174327 HGNC:31037 18054 VALIDATED 7491842 SLC16A1-AS1 SLC16A1 antisense RNA 1 1 1 p13.2 113499037 113506694 + 112956415 112964072 + 12477932 100506392 ABBA01068436;AL158844;AL390242;AMYH02001754;AMYH02001755;BC009525;BC023568;BC047723;BC062295;BQ708590;BX648855;HG492449;NR_103743;NR_103744 Hs.418285 RP11-31F15.1 ncrna ENSG00000226419 HGNC:49445 VALIDATED 1320146 SLC16A14 solute carrier family 16, member 14 ENCODES a protein that exhibits symporter activity (inferred); INVOLVED IN transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-demecolcine; benzo[a]pyrene diol epoxide I; calcitriol 2 2 2 q36.3 224675617 224709637 - 230899690 230933715 - 230034974 230068999 - 6480464;8554872 12477932;12739169;14702039;16344560 151473 C9JIV1;C9JME4;E7EMG7;Q6ZWE5;Q7RTX9 ABBA01050131;ABBA01050132;ABBA01050133;ABBA01050134;AC093171;AK055317;AK055356;AK123207;AK292873;AL833470;AMYH02005950;AX512919;AX512921;BC034382;BC065524;BN000146;BX093330;BX648181;CH471063;DA044472;NM_152527;XM_005246353;XM_005246354 AAH34382;AAH65524;AAY24109;BAB70909;BAC85558;BAF85562;BAG51499;CAD52855;CAD52856;CAD80157;EAW70913;EAW70914;NP_689740;Q7RTX9;XP_005246410;XP_005246411 Hs.504317 1338074;1766987;2111137 D2S2317;D2S247E;SHGC-152545 FLJ30794;MCT 14;MCT14 OTTHUMP00000164266;OTTHUMP00000204389;OTTHUMP00000204390;monocarboxylate transporter 14;monocarboxylic acid transporter 14;solute carrier family 16 (monocarboxylic acid transporters), member 14;solute carrier family 16 member 14;solute carrier family 16, member 14 (monocarboxylic acid transporter 14) APPROVED protein-coding ENSG00000163053 HGNC:26417 15347 VALIDATED 737474 SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1 The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 1 p12 111683316 111727817 - 113454469 113498975 - 112911847 112956353 - 1580863;6480464;7240710;8554872;8699517 10471310;10562613;10590411;10921872;11820324;11882670;11944921;11953883;12477932;12479094;12657613;12739169;12759536;12949353;1429658;14702039;14724187;15135232;15342556;15489334;15505343;15765403;15804185;15901598;15917240;16136905;16150873;16196087;16370372;16403470;16408234;16441976;17016429;17081983;17082373;17182800;17342744;17353931;17701893;18029348;18079261;18188595;18539591;18781797;18832090;19033536;19033663;19427019;19850519;19876643;19881260;19898482;19905008;19913121;19946888;20035863;20454640;20501436;20628086;20636790;20877624;20972266;21081165;21139048;21145461;21306479;21646425;21787388;21870331;21890473;21906983;21930917;21963094;21987487;21987572;22053931;22184616;22281667;22428047;22505724;22516692;22939629;23000965;23073708;23097496;23187830;23574725;23628675;24012639;24013424;24166504;24250222;24338019;24639526;25015289;7273846;7835905;8124722;8889548;9824713 6566 B4DKS0;P53985;Q5T8R3;Q5T8R4;Q5T8R5 ABBA01068436;AF239919;AI656300;AJ438942;AJ438943;AJ438945;AK000641;AK094064;AK296688;AK303603;AK312500;AL158844;AL162079;AMYH02001753;AMYH02001754;BC026317;BC045664;BM712667;BP294493;CH471122;DB443025;L31801;NG_015880;NM_001166496;NM_003051 AAC41707;AAH26317;AAH45664;ABM86212;ABW03657;ACE86705;ACE87390;BAG35402;BAG59282;BAG64618;CAB82412;CAD27707;EAW56551;EAW56552;EAW56553;NP_001159968;NP_003042;P53985 Hs.75231 1661042;1739167;1745743;1754083;1772230;1796782;1855898;1856219;2143349;2155703;2169904;2216954;5022578;5024761;5037552;5093266;5109281;5109283 94;A009K27;Bda32a02;D1S1423;D1S1425;D1S1431;D1S1896E;D1S2287;D1S3034;D8S2279;G32617;GDB:633352;RH36905;RH69982;SHGC-12946;SHGC-132119;SLC16A1_833;Slc16a1 FLJ36745;HHF7;MCT;MCT 1;MCT1;MGC44475 OTTHUMP00000013960;OTTHUMP00000013961;OTTHUMP00000013962;OTTHUMP00000013963;monocarboxylate transporter 1;solute carrier family 16 (monocarboxylic acid transporters), member 1;solute carrier family 16 member 1;solute carrier family 16, member 1;solute carrier family 16, member 1 (monocarboxylic acid transporter 1) APPROVED protein-coding ENSG00000155380 HGNC:10922 02816 245340;600682;610021 REVIEWED 7247677 SLC16A1P1 SLC16A1 pseudogene 1 7 7 7 138315513 138316887 + 143682235 143683610 + 143985142 143986517 + 100422547 ABBA01000975;AC004853;AMYH02016975;CH236959;NG_026644 pseudo HGNC:48931 INFERRED 737451 SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012] X X X q13.2 73924511 74037335 + 73641328 73753764 + 74421493 74533929 + 1304408;1599329;1580863;6480464;7240710;8554872;8699517 12871948;15980113 12739169;14661163;15146197;15488219;15661862;15834651;15889350;16887882;16957765;17081983;17356046;17684393;18187543;18337592;18398436;18636565;18687783;18710470;19022891;19194886;19439506;19641107;19648159;19797118;19811520;20167367;20301682;20301789;20373986;20628049;20660035;20705735;21208750;21315799;21415082;21486766;21813593;22805248;22924588;23419639;23546606;23550058;23568789;23610131;23744248;23776477;23978482;24204008;7829101;7981683;8619474;9110174;9425115;9545634 6567 K7ELT4;P36021 AA205401;AB085789;ABBA01059546;ABBA01059547;ABBA01059548;ABBA01059549;ABBA01059550;ABBA01059551;ABBA01059552;ABBA01059553;ABBA01059554;ABBA01059555;ABBA01059556;ABBA01059557;ABBA01059558;ABBA01059559;ABBA01059560;ABBA01059561;ABBA01059562;ABBA01059563;ABBA01059564;AC004073;AF055025;AK308542;AL157934;AMYH02039781;AW022421;CH471104;CN342861;KC877973;NG_011641;NM_006517;U05315;U05316;U05321;XM_005262294 AAB60374;AAB60375;AAI56063;AAI56881;BAC76827;EAW98644;EAW98645;NP_006508;P36021;XP_005262351 Hs.75317 1702004;1702072;1796784;2124408;2147708;7183971;7186402 DXS128;DXS7738;GDB:600880;RH70539;SLC16A2_396 AHDS;DXS128;DXS128E;MCT 7;MCT 8;MCT7;MCT8;MRX22;XPCT OTTHUMP00000023573;X-linked PEST-containing transporter;monocarboxylate transporter 7;monocarboxylate transporter 8;solute carrier family 16 member 2;solute carrier family 16, member 2 (monocarboxylic acid transporter 8) APPROVED protein-coding ENSG00000147100 HGNC:10923 02106 300095;300523 REVIEWED 1348929 SLC16A4 solute carrier family 16, member 4 ENCODES a protein that exhibits monocarboxylic acid transmembrane transporter activity (inferred); symporter activity (inferred); INVOLVED IN monocarboxylic acid transport (inferred); transmembrane transport (inferred); FOUND IN integral component of plasma membrane (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 1 1 1 p13.3 109152678 109180820 - 110905473 110933704 - 110362851 110391409 - 724632;1580863;6480464 9425115 10329977;10510291;10921872;11101640;12477932;12657613;12739169;14724187;15135232;15342556;15917240;16403666;16408234;16452478;16710414;17082373;18056982;18079261;18188595;18635880;18832090;19073896;19322201;19876643;20035863;20454640;20658178;21306479;21558814;21787388;21870331;21930917;22153830;22240841;22362593;23187830;23258846;23574725;23780984;23881922;23907124;23935841;24338019;24498219;8125298 9122 E9PKZ1;E9PRV1;H0YEG4;O15374 ABBA01068390;ABBA01068391;AI245349;AK129985;AK223307;AK290720;AK295946;AK298539;AK313735;AL355488;AL833619;AMYH02001722;BC021664;BE893159;BP345760;BX647948;CH471122;NM_001201546;NM_001201547;NM_001201548;NM_001201549;NM_004696;U59185;XM_005271317;XM_005271318;XM_006711033;XR_246304;XR_426639 AAB72035;AAH21664;BAD97027;BAF83409;BAG36476;BAG58729;BAG60739;EAW56443;EAW56444;EAW56445;EAW56446;NP_001188475;NP_001188476;NP_001188477;NP_001188478;NP_004687;O15374;XP_005271374;XP_005271375;XP_006711096 Hs.351306 1664926;1755473;1765569;1787632;1849204;1849206;5037552 A006B12;AL009866;D8S2279;G20671;SHGC-142339;SHGC-149033;SHGC-155999 MCT 4;MCT 5;MCT4;MCT5 OTTHUMP00000013008;OTTHUMP00000013284;OTTHUMP00000229648;monocarboxylate transporter 4;monocarboxylate transporter 5;solute carrier family 16 (monocarboxylic acid transporters), member 4;solute carrier family 16 member 4;solute carrier family 16, member 4 (monocarboxylic acid transporter 5) APPROVED protein-coding ENSG00000168679 HGNC:10925 04855 603878 VALIDATED 731750 SLC16A3 solute carrier family 16 (monocarboxylate transporter), member 3 Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM, Mar 2008] 17 17 17 q25 76780516 76791586 + 80186282 80197375 + 82228406 82239499 + 724632;1580863;6480464 9425115 10510291;10921872;12477932;12657613;12739169;15489334;15917240;16344560;17081983;17502341;18029348;18781797;19913121;20035863;20628086;21906983;21963094;21987572;7273846;8125298;8889548 9123 J3KT83;J3KTI8;J3KTM6;J3QLE3;J3QQS9;J3QQV2;J3QRA0;J3QRP8;J3QRU2;J3QSC3;O15427 AA448579;ABBA01019672;ABBA01019673;AC132872;AK127319;AK223040;AMYH02034151;BC112267;BC112269;BM926587;BM980920;CH471099;CX872345;DA373476;DA419716;DA583988;DA895850;NM_001042422;NM_001042423;NM_001206950;NM_001206951;NM_001206952;NM_004207;U81800 AAC52015;AAI12268;AAI12270;ADR83188;BAD96760;BAG54480;EAW89753;EAW89754;EAW89755;EAW89756;EAW89757;NP_001035887;NP_001035888;NP_001193879;NP_001193880;NP_001193881;NP_004198;O15427 Hs.500761 2131308;5014051;5015619;5022578;5037552 D11S3114;D1S1423;D8S2278;D8S2279;RH11551 MCT 3;MCT 4;MCT-3;MCT-4;MCT3;MCT4;MGC138472;MGC138474 monocarboxylate transporter;monocarboxylate transporter 3;monocarboxylate transporter 4;solute carrier family 16 (monocarboxylic acid transporters), member 3;solute carrier family 16 member 3;solute carrier family 16, member 3 (monocarboxylic acid transporter 4) APPROVED protein-coding ENSG00000141526 HGNC:10924 04854 603877 VALIDATED 1351583 SLC16A5 solute carrier family 16 (monocarboxylate transporter), member 5 This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 17 17 17 q25.1 3530 11731 - 73083822 73102257 + 75087727 75106162 + 724632;1580863;6480464 9425115 10510291;12477932;12739169;14702039;15489334;16174808;19322201;21906983;22911660 9121 J3KS19;J3KT93;J3QL40;J3QQW5;O15375 ABBA01028817;ABBA01028818;AC111186;AK000416;AK092512;AK304163;AMYH02033983;AW452009;BC009684;BC033611;BI820515;CH471099;NM_001271765;NM_004695;U59299;XM_005257790;XM_005257791;XM_006722170 AAC52013;AAH09684;AAH33611;ABM85080;BAG52563;BAG65050;EAW89232;EAW89233;EAW89234;EAW89235;NP_001258694;NP_004686;O15375;XP_005257847;XP_005257848;XP_006722233 Hs.592095 1691156;1736710;1765715 D17S1521;RH80627;SHGC-149150 MCT 5;MCT 6;MCT5;MCT6 monocarboxylate transporter 5;monocarboxylate transporter 6;solute carrier family 16 (monocarboxylic acid transporters), member 5;solute carrier family 16 member 5;solute carrier family 16, member 5 (monocarboxylic acid transporter 6) APPROVED protein-coding ENSG00000170190 HGNC:10926 04856 603879 REVIEWED 1343675 SLC16A6 solute carrier family 16, member 6 ENCODES a protein that exhibits monocarboxylic acid transmembrane transporter activity (inferred); symporter activity (inferred); INVOLVED IN monocarboxylic acid transport (inferred); transmembrane transport (inferred); FOUND IN integral component of plasma membrane (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine 17 17 17 q24.2 62834768 62859018 - 66263167 66287405 - 68267026 68291264 - 724632;1580863;6480464 9425115 10510291;12477932;12739169;16174808;17081983;19322201;21963094;23333304 9120 J3KS02;J3KTN2;O15403 ABBA01028963;AC005332;AK290417;AK313121;AMYH02033870;AX750581;AX750582;BC064832;BC127749;BC127750;BC141962;BC150547;BC150548;CH471099;NG_032814;NM_001174166;NM_004694;U79745;XM_005257789;XM_006722169 AAC52014;AAH64832;AAI27750;AAI27751;AAI41963;AAI50548;AAI50549;BAF83106;CAD99143;CAD99144;EAW89052;EAW89053;EAW89054;NP_001167637;NP_004685;O15403;XP_005257846;XP_006722232 Hs.42645 1796786;2173350 SLC16A6_835;STS-N33189 MCT 6;MCT 7;MCT6;MCT7 breast cancer protein BCY5;monocarboxylate transporter 6;monocarboxylate transporter 7;solute carrier family 16 (monocarboxylic acid transporters), member 6;solute carrier family 16 member 6;solute carrier family 16, member 6 (monocarboxylic acid transporter 7) APPROVED protein-coding ENSG00000108932 HGNC:10927 04857 603880 VALIDATED 7247660 SLC16A6P1 SLC16A6 pseudogene 1 17 17 17 q24.1 59521050 59524389 + 62949801 62953143 + 64953683 64957025 + 440459 ABBA01029054;ABBA01029055;AC037487;AMYH02033801;NG_012727 pseudo HGNC:48932 INFERRED 6480419 SLC16A14P1 solute carrier family 16, member 14 pseudogene 1 8 8 8 q23.1 103415247 103416787 + 107227993 107229533 + 106215765 106217305 + 100128685 ABBA01037683;AC027031;AC129928;AMYH02018572;NG_022428 1704260;1709346 SHGC-81671;SHGC-83265 APPROVED pseudo HGNC:43809 INFERRED 736227 SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8 SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010] 22 22 22 q12.3-q13.2 22275893 22280919 - 38474144 38479170 - 38078137 38083163 - 1580863;6480464 10493836;10591208;12657613;12739169;15917240;16169070;20424473;23455636;7273846;8889548 23539 B0QYL4;O95907 ABBA01055502;AF132610;AF132611;AL031587;AMYH02038352;BM709138;BM714896;BM714916;CH471095;NM_013356 AAF03489;AAF03565;AAI56247;AAI57027;EAW60214;EAW60215;NP_037488;O95907 Hs.745256 1754415;2216960;2218808 SHGC-132435;SLC16A8_4325;UniSTS:461936 MCT 3;MCT3;REMP OTTHUMP00000199351;monocarboxylate transporter 3;solute carrier 16 (monocarboxylic acid transporters), member 8;solute carrier family 16 member 8;solute carrier family 16, member 8 (monocarboxylic acid transporter 3) APPROVED protein-coding ENSG00000100156 HGNC:16270 11568 610409 VALIDATED 1346247 SLC16A7 solute carrier family 16 (monocarboxylate transporter), member 7 This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 12 12 12 q13 59745720 59838012 + 59989821 60183636 + 59596040 59789855 + 1580863;6480464;8554872 12115955;12477932;12739169;14757520;15123239;15505343;15917240;17502341;18188595;18598673;19834535;19876643;20035863;20379614;20454640;20827233;21177384;21680735;21787388;21906983;21987572;21988832;22131303;22535546;22700320;22964484;23192371;7273846;9786900 9194 F8VQS4;F8VS95;F8VVU7;F8VXG4;F8VYZ2;F8W0N3;F8W0U4;F8W1M4;O60669 ABBA01026672;ABBA01026673;ABBA01026674;AC079905;AC119793;AF049608;AF058056;AK301725;AK310281;AK313345;AMYH02026614;BC007463;BC030693;CH471054;DC394954;DR000391;NM_001270622;NM_001270623;NM_004731;NR_073055;NR_073056;XM_005269231;XM_006719693 AAC13721;AAC70919;AAH30693;ABM84505;ABM85684;BAG36148;BAG63191;EAW97096;EAW97097;EAW97098;EAW97099;NP_001257551;NP_001257552;NP_004722;O60669;XP_005269288;XP_006719756 Hs.439643;Hs.88156 1666093;1719841;1736228;1779750;1798166;2216956;2216958;5018983 AL033784;D12S1169E;RH123615;SHGC-153727;SLC16A7_1419;STS-N34486;UniSTS:461933;UniSTS:461934 MCT 2;MCT2 OTTHUMP00000242485;OTTHUMP00000242486;monocarboxylate transporter 2;solute carrier family 16 (monocarboxylic acid transporters), member 7;solute carrier family 16 member 7;solute carrier family 16, member 7 (monocarboxylic acid transporter 2) APPROVED protein-coding ENSG00000118596 HGNC:10928 06791 603654 REVIEWED 1347871 SLC16A9 solute carrier family 16, member 9 ENCODES a protein that exhibits symporter activity (inferred); INVOLVED IN urate metabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2-methylcholine; aflatoxin B1; copper atom 10 10 10 q21.2 54676299 54735417 - 61410522 61469649 - 59650764 59709891 - 6480464;8554872 12477932;12739169;14702039;16344560;16385451;19503597;19861489;19890391;20037589;20162742;20162743;21886157;21890473;21906983;23263486;23990105;24376456 220963 Q7RTY1 ABBA01019452;ABBA01019453;ABBA01019454;AC022027;AC026391;AK021827;AK125791;AK172758;AL122071;AMYH02023166;AMYH02023167;AMYH02023168;AMYH02023169;AMYH02023170;BC126238;BC130567;BN000144;BX092606;CH471083;CX784319;DA229807;NM_194298 AAI26239;AAI30568;ADR83371;BAC86293;BAD18743;CAB59247;CAD80155;EAW54194;NP_919274;Q7RTY1 Hs.499709 1341473;1698108;1716507;1754871;1766209;1777417;1855489;2219694;7183694;7184890 D10S589;G35324;RH102586;RH121539;SHGC-141800;SHGC-149574;SLC16A9__5427;STS-AA021431 C10orf36;FLJ43803;MCT 9;MCT9 OTTHUMP00000178988;OTTHUMP00000178989;monocarboxylate transporter 9;monocarboxylic acid transporter 9;solute carrier family 16 (monocarboxylic acid transporters), member 9;solute carrier family 16 member 9;solute carrier family 16, member 9 (monocarboxylic acid transporter 9) APPROVED protein-coding ENSG00000165449 HGNC:23520 15348 614242 VALIDATED 1318813 SLC17A2 solute carrier family 17, member 2 ENCODES a protein that exhibits sodium:phosphate symporter activity (inferred); INVOLVED IN phosphate ion transmembrane transport (inferred); phosphate-containing compound metabolic process (inferred); sodium ion transmembrane transport (inferred); ASSOCIATED WITH Fanconi Syndrome (inferred); Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of plasma membrane (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4'-tetrachlorobiphenyl 6 6 6 p21.3 27140178 27158141 - 25912982 25930954 - 25912754 25930726 - 1580863;6480464;7240710;8554872 12477932;14574404;19850743;19890391;9149941 10246 O00624 ABBA01066552;AL138726;AMYH02013345;BC104822;BC112033;BC143317;BC143323;BJ993843;C21035;CH471087;NG_034000;NM_001286123;NM_001286125;NM_005835;U90544;U91328;XM_005248784;XM_006714949;XM_006714950;XM_006714951;XM_006714952 AAB53422;AAB82085;AAI04823;AAI12034;EAW55498;EAW55499;EAW55500;NP_001273052;NP_001273054;NP_005826;O00624;XP_005248841;XP_006715012;XP_006715013;XP_006715014;XP_006715015 Hs.591802 1848346;2140528 D6S2382;RH17511 MGC138238;NPT3 Na(+)/PI cotransporter 3;OTTHUMP00000016129;OTTHUMP00000016130;sodium phosphate transporter 3;sodium-dependent phosphate transport protein 3;sodium/phosphate cotransporter 3;solute carrier family 17 (sodium phosphate), member 2;solute carrier family 17 (vesicular glutamate transporter), member 2;solute carrier family 17 member 2 APPROVED protein-coding ENSG00000112337 HGNC:10930 10232 611049;612286;613388 VALIDATED 1350724 SLC17A1 solute carrier family 17 (organic anion transporter), member 1 ENCODES a protein that exhibits sodium-dependent phosphate transmembrane transporter activity (inferred); symporter activity (inferred); INVOLVED IN urate metabolic process; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog); 2-amino-2-deoxy-D-glucopyranose (ortholog) 6 6 6 p22.2 27010324 27059480 - 25783125 25832287 - 25782897 25832059 - 1580863;6480464;8554872 10733936;11704559;12477932;14531806;19084217;19204726;19503597;19556210;19571809;19890391;20162742;20566650;20884846;20927387;21149283;21208937;21983786;22541845;23263486;23852697;23876149;7826357;8288239;8867793;9545579;9781053 6568 E9PGW3;Q14916 ABBA01066549;ABBA01066550;AF362494;AF362495;AF362500;AF362502;AF362504;AK290783;AK308035;AL138726;AL391194;AMYH02013342;AMYH02013343;AY780791;BC101745;BC101747;BC143579;BG054690;CH471087;D28532;D83236;DC362172;NM_005074;X71355;XM_005249306;XM_005249307 AAI01746;AAI01748;AAL04478;AAL04479;AAL04480;AAL04481;AAL04482;AAV98361;BAA05888;BAA25645;BAF83472;CAA50490;EAW55494;NP_005065;Q14916;XP_005249363;XP_005249364 Hs.205816 1663768;1684425;1733408;1846560;2124493;2161613;2189685 D6S2054;D6S2237;D6S2293;D6S2386;D6S985;G29215;RH80887 MGC126794;MGC126796;NAPI-1;NPT-1;NPT1 Na(+)/PI cotransporter 1;OTTHUMP00000017909;OTTHUMP00000214413;OTTHUMP00000214415;na/Pi-4;renal Na(+)-dependent phosphate cotransporter 1;renal sodium-dependent phosphate transport protein 1;renal sodium-phosphate transport protein 1;sodium phosphate transporter;sodium-dependent phosphate transport protein 1;sodium/phosphate cotransporter 1;sodium/phosphate type I cotransporter;solute carrier family 17 (sodium phosphate), member 1;solute carrier family 17 (vesicular glutamate transporter), member 1;solute carrier family 17 member 1 APPROVED protein-coding ENSG00000124568 HGNC:10929 01661 182308 VALIDATED 733841 SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7 The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008] 19 19 19 q13 46800275 46812426 - 49932655 49945617 - 49429398 49441551 - 1580863;6480464;6907045;8554872 10820226;10938000;11001057;12107411;12477932;14702039;15653259;15961236;16606361;17531353;17660252;18155679;19086053;19156168;19720501;19839996;21396926;22510271;23022470;8632143;8889548 57030 M0R1S5;Q9P2U7 AB032436;ABBA01032929;AC010619;AK057879;AK091061;AK095659;AK289622;AK294226;AK294405;AMYH02036317;BC059379;BG701511;BQ636968;BU732143;CH471177;NM_020309 AAH59379;BAA92875;BAF82311;BAG57530;BAG57657;EAW52485;NP_064705;Q9P2U7 Hs.375616 1645001;1711412;1791266;2151357;2217980;5023547 G42190;HSCZSA032;MARC_9701-9702:996688535:1;PMC84149P1;RH11758;SLC17A7_839.2 BNPI;VGLUT1 brain-specific Na(+)-dependent inorganic phosphate cotransporter;brain-specific Na-dependent inorganic phosphate cotransporter;solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7;solute carrier family 17 member 7;vesicular glutamate transporter 1 APPROVED protein-coding ENSG00000104888 HGNC:16704 05551 605208 REVIEWED 733222 SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8 This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 12 12 12 q23.1 100416121 100481106 + 100750857 100815837 + 100357079 100422059 + 1580863;6480464;6907045;7240710;8547672;8554872;8699517 22715884 11115382;12151341;12477932;15102489;16516863;16722234;17660252;18498073;18674745;20301607;23341777 246213 Q8NDX2 ABBA01053256;AC026110;AC126308;AJ459241;AK128319;AMYH02027057;BC117229;BC143396;CH471054;NG_021175;NM_001145288;NM_139319 AAI17230;AAI43397;ADR83038;BAG54658;CAD30553;EAW97637;NP_001138760;NP_647480;Q8NDX2 Hs.116871 1335154;1746907;1746941;1749177;1767995;1782632;1796790 D12S1030;G10266;G64829;G64831;SHGC-110863;SHGC-145725;SLC17A8_1283 DFNA25;VGLUT3 OTTHUMP00000243577;OTTHUMP00000243578;solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8;solute carrier family 17 member 8;vesicular glutamate transporter 3 APPROVED protein-coding ENSG00000179520 HGNC:20151 10457 605583;607557 REVIEWED 1323655 SLC17A9 solute carrier family 17 (vesicular nucleotide transporter), member 9 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN exocytosis (inferred); transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 20 20 20 q13.33 58260628 58276497 + 61583999 61599949 + 62952647 62968597 + 6480464;8554872 11780052;12477932;12693554;14702039;15489334;16344560;18375752;20382737;21613220;21988832;23467297;24292772 63910 Q5W197;Q9BYT1 ABBA01021377;AK027065;AK074107;AK095473;AK125597;AK298503;AL121673;AMYH02037444;AMYH02037445;BC025312;BC027447;BC038593;CH471077;DB153870;NM_022082;XM_005260228;XM_006723853;XR_430309;XR_430310 AAH25312;AAH27447;BAB15644;BAB84933;BAG53064;BAG60710;EAW75313;EAW75314;EAW75315;EAW75316;EAW75317;NP_071365;Q9BYT1;XP_005260285;XP_006723916 Hs.512686 1680323;1681109;5093528 G32772;RH67463;RH78178 C20orf59;FLJ23412;VNUT OTTHUMP00000031528;OTTHUMP00000031530;solute carrier family 17 member 9;solute carrier family 17, member 9;vesicular nucleotide transporter SLC17A9 APPROVED protein-coding ENSG00000101194 HGNC:16192 12777 612107 VALIDATED 1314119 SLC17A4 solute carrier family 17, member 4 Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011] 6 6 6 p22.2 26982141 27008607 + 25754927 25781403 + 25754699 25781175 + 1580863;6480464;8554872 10319585;12477932;12672655;19460752;21909108;21943158;22460716 10050 Q9Y2C5 AB020527;ABBA01066548;ABBA01066549;AK024903;AK293354;AK308500;AL391194;AMYH02013342;BC109207;BC109208;CH471087;NM_001286121;NM_005495;XM_006714946 AAI09208;AAI09209;BAA76663;BAG56870;EAW55492;EAW55493;NP_001273050;NP_005486;Q9Y2C5;XP_006715009 Hs.282931 1788902;1798168 G67627;SLC17A4_1574 KAIA2138;KIAA2138;MGC129623 Na/PO4 cotransporter;OTTHUMP00000016125;probable small intestine urate exporter;putative small intestine sodium-dependent phosphate transport protein;solute carrier family 17 (sodium phosphate), member 4;solute carrier family 17 member 4 APPROVED protein-coding ENSG00000146039 HGNC:10932 05022 604216 VALIDATED 730912 SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6 ENCODES a protein that exhibits L-glutamate transmembrane transporter activity (inferred); symporter activity (inferred); INVOLVED IN ion transport (inferred); L-glutamate transport (inferred); neurotransmitter uptake (inferred); PARTICIPATES IN glutamate signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); integral component of membrane (inferred); neuron projection (inferred); INTERACTS WITH arsenite(3-); cytarabine; methylmercury chloride 11 11 11 p14.3 22492722 22534075 + 22359667 22401049 + 22338121 22379503 + 1580863;6480464;6907045;8554872 10820226;11306821;12477932;15124103;16344560;17531353;17660252;18050306;18155679;18562601;19086053;19156168;19839996;20540360;20541370;22510271;22684983;23453885;8889548 57084 B4DGA8;Q9P2U8 AB032435;ABBA01061015;AC040936;AK294502;AK309131;AMYH02024429;BC069629;BC069640;BC069646;BQ185289;BQ188116;CH471064;CK823303;DA392769;NM_020346 AAH69629;AAH69640;AAH69646;BAA92874;BAG57719;EAW68324;NP_065079;Q9P2U8 Hs.242821 1673743;1729752 D11S2049;D11S865 DNPI;VGLUT2 OTTHUMP00000231813;differentiation-associated BNPI;differentiation-associated Na(+)-dependent inorganic phosphate cotransporter;differentiation-associated Na-dependent inorganic phosphate cotransporter;solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6;solute carrier family 17 member 6;vesicular glutamate transporter 2 APPROVED protein-coding ENSG00000091664 HGNC:16703 10459 607563 VALIDATED 731538 SLC16A10 solute carrier family 16 (aromatic amino acid transporter), member 10 SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM, Apr 2004] 6 6 6 q21-q22 112155354 112291161 + 111408728 111544608 + 111087525 111223405 + 1580863;6480464 11278508;11278976;11827462;12477932;12739169;15918515;18195088;18337592;20167367;21315799;21486766;21508134;21886157;21890473;21906983;22286219;23383108 117247 H0Y3W8;H0Y5M8;Q8TF71;Q9P1I2 AB057445;ABBA01026094;ABBA01026095;ABBA01026096;ABBA01026097;AF116652;AK126183;AK172789;AL360227;AMYH02014298;AMYH02014299;AMYH02014300;AMYH02014301;AMYH02014302;BC017968;BC034031;BC066985;CH471051;NM_018593;XM_005266818;XM_005266819;XM_006715329 AAF71072;AAH17968;AAH34031;AAH66985;BAB84670;BAD18768;BAG54292;EAW48298;EAW48299;NP_061063;Q8TF71;XP_005266875;XP_005266876;XP_006715392 Hs.591327 1717049;1796780;2125153;2160205 EV4Pm;RH124087;SLC16A10_831;STS-N30257 MCT 10;MCT10;PRO0813;TAT1 OTTHUMP00000017017;T-type amino acid transporter 1;aromatic amino acid transporter 1;monocarboxylate transporter 10;solute carrier family 16 (monocarboxylic acid transporters), member 10;solute carrier family 16 member 10;solute carrier family 16, member 10;solute carrier family 16, member 10 (aromatic amino acid transporter) APPROVED protein-coding ENSG00000112394 HGNC:17027 09613 607550 VALIDATED 737319 SLC18A1 solute carrier family 18 (vesicular monoamine transporter), member 1 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008] 8 8 8 p21.3 18964997 19003346 - 20002366 20040717 - 20144855 20183206 - 1580863;5131197;5131200;5131198;6480464;6907045;8554872 16189177;16936705;18451639 11431013;12477932;12807698;12827358;12871984;16326835;17134514;18193046;18249496;18702937;19060910;19156168;20031538;20038947;20468064;20677014;21883697;23090274;23337945;23505323;7905859;8643547 6570 E5RK12;P54219;Q96GL6 ABBA01021549;AC025853;AK313720;AMYH02017570;BC006317;BC009387;CH471080;NM_001135691;NM_001142324;NM_001142325;NM_003053;U39905;XR_247130 AAC50472;AAH06317;AAH09387;ABM83656;ABM84371;ABM86902;BAG36463;EAW63760;EAW63761;EAW63762;EAW63763;NP_001129163;NP_001135796;NP_001135797;NP_003044;P54219 Hs.158322 1796792 SLC18A1_248 CGAT;VAT1;VMAT1 OTTHUMP00000122508;OTTHUMP00000224712;OTTHUMP00000224713;OTTHUMP00000224714;OTTHUMP00000237226;chromaffin granule amine transporter;solute carrier family 18 (vesicular monoamine), member 1;solute carrier family 18 member 1;solute carrier family 18, member 1;vesicular amine transporter 1 APPROVED protein-coding ENSG00000036565 HGNC:10934 01897 193002 VALIDATED 1344101 SLC17A3 solute carrier family 17 (organic anion transporter), member 3 The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012] 6 6 6 p21.3 27072523 27101662 - 25845328 25874471 - 25845100 25874243 - 1580863;6480464;7240710;8554872 12477932;15505377;16712791;18834626;19571809;19862010;19890391;20053405;20162743;20379614;20587610;20810651;21282933;21778665;23222517;23263486;23824729;9149941 10786 E9PBQ8;H0Y8R7;H0Y9F7;O00476 ABBA01066550;AK296070;AK296082;AK298271;AK298297;AK298367;AL138726;AMYH02013343;BC017952;BX107915;CB163247;CH471087;DC340735;DC361549;NG_032922;NM_001098486;NM_006632;U90545;Z83953 AAB53423;AAH17952;ABM82917;ABM86107;BAH12250;BAH12253;BAH12747;BAH12751;BAH12767;EAW55495;EAW55496;EAW55497;NP_001091956;NP_006623;O00476 Hs.327179 1648850 D6S2385 NPT4 Na(+)/PI cotransporter 4;OTTHUMP00000016126;OTTHUMP00000016127;OTTHUMP00000016128;sodium-dependent phosphate transport protein 4;sodium/phosphate cotransporter 4;solute carrier family 17 (sodium phosphate), member 3;solute carrier family 17 member 3 APPROVED protein-coding ENSG00000124564 HGNC:10931 10233 611034;612671 REVIEWED 732691 SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3 This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008] 10 10 10 q11.2 44404433 44406852 + 50818347 50820766 + 49610301 49612720 + 61752;1580863;5686699;5686430;5686805;5686685;5686693;5686682;6480464;5686673;5686690;8549504 16987871;17229408;17306796;17328924;18394802;18848922;21333939;21743130;23677775;8071310 10727789;10883397;12417445;12477932;12759818;12827358;14622097;15489334;16763548;17373700;19204726;19685929;20379614;20490865;20831599;21163949;21948486;22821666;23222296;24316404;7616604;8860234;8910293 6572 Q16572 ABBA01041070;AC073366;AK313094;AMYH02022985;BC007765;CH471187;NG_011797;NM_003055;U09210;U10554 AAA20497;AAB92675;AAH07765;ADZ15462;BAG35918;EAW93093;NP_003046;Q16572 Hs.654374 MGC12716;VACHT OTTHUMP00000019582;solute carrier family 18 (vesicular acetylcholine), member 3;solute carrier family 18 member 3;solute carrier family 18, member 3;vesicular acetylcholine transporter APPROVED protein-coding ENSG00000187714 HGNC:10936 08979 600336 REVIEWED 734009 SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011] 10 10 10 q25 112730694 112769064 + 119000584 119038941 + 117241073 117279430 + 1580863;5131168;5130970;5131165;5129143;5131167;5128868;5131159;5131163;5131179;5131199;5131086;6480464;6907045 11463816;16269145;16339215;16421508;17683483;17898223;18385100;19223416;19798748;19903816;21291984 11279528;11431013;11443533;11997877;12009896;12112084;12477932;12710012;12827358;12871984;15135235;15164054;15217342;15475732;15489334;15829504;15850588;15988470;16139173;16189177;16386370;16408221;17233532;17344033;17427184;17442673;17652604;17665159;17985233;18045777;18288090;18316816;18599602;18791800;18797399;19156168;19228741;19289536;19328558;19460752;19693267;19874574;20080893;20181938;20379614;20468064;20544232;20665056;20677014;21041608;21083670;21139048;21484276;21522164;21814181;21851191;22483869;22532702;22554508;23185343;23221614;23363473;23369548;23404442;23410751;23504072;23504951;23530208;23573890;23932573;24018103;7905859;8095030;8245983;8373557;8643547;9045708 6571 Q05940;Q99870 AB044401;ABBA01062946;ABBA01062947;AK314997;AL391988;AL731557;AMYH02023882;BC030593;BC108927;BC108928;BQ416859;CH471066;DB458870;L09118;L14269;L23205;NM_003054;X71354;X94079 AAA59877;AAA61290;AAA91853;AAH30593;AAI08928;AAI08929;BAB19009;BAG37493;CAA50489;CAA63824;EAW49428;EAW49429;EAW49430;NP_003045;Q05940 Hs.596992 1680116;1789248;2145239;2162964 G65624;RH92599;SHGC-31141;U75537 MGC120477;MGC120478;MGC26538;SVAT;SVMT;VAT2;VMAT2 OTTHUMP00000020576;monoamine neurotransmitter transporter;monoamine transporter;solute carrier family 18 (vesicular monoamine), member 2;solute carrier family 18 member 2;solute carrier family 18, member 2;synaptic vesicular amine transporter;vesicle monoamine transporter type 2;vesicle monoamine/H+ antiporter;vesicular amine transporter 2 APPROVED protein-coding ENSG00000165646 HGNC:10935 01896 193001 REVIEWED 1315874 SLC18B1 solute carrier family 18, subfamily B, member 1 This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008] 6 6 6 q22.3-q23.3 133837336 133866574 - 133090507 133119747 - 132769368 132798627 - 6480464 12477932;15203218;19322201;19697161;21906983;21987572 116843 B7Z1S5;Q5TBJ2;Q6NT16 ABBA01025876;AJ420537;AK124442;AK289918;AK293853;AL032821;AL137783;AMYH02014503;AX235945;BC069567;BC069570;CB218467;CD635228;CH471051;NM_052831;XM_006715328;XR_427961 AAH69567;AAH69570;BAF82607;BAG54039;BAH11611;CAC88243;EAW48012;EAW48013;NP_439896;Q6NT16;XP_006715391 Hs.347144 1715679;2122776;2127913 RH119286;RH46757;WI-13485 C6orf192;dJ55C23.6 MFS-type transporter C6orf192;MFS-type transporter SLC18B1;OTTHUMP00000017232;solute carrier family 18 member B1 APPROVED protein-coding ENSG00000146409 HGNC:21573 12869 613361 VALIDATED 1322823 SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008] 6 6 6 q13 74698011 74758950 - 74303102 74363737 - 73593379 73654014 - 1624224;1580863;6480464;7240710;8554872;8699517 10581036 10069709;10947946;11588980;11751519;12121352;12359136;12477932;12794687;14702039;15006695;15172005;15342556;15489334;15510212;15516337;16170568;16303743;17897319;17933575;18399798;18695252;19557856;19913121;2010546;20301643;20379614;20424173;20628086;21781115;21832049;21890473;21906983;22334707;22632162;22778404;2334213;24501781;3961501;7151835;7557994;7573152;8198127 26503 B4DFF2;Q9NRA2 ABBA01040332;ABBA01040333;ABBA01040334;ABBA01040335;ABBA01040336;ABBA01040337;AF244577;AJ387747;AK025880;AK026921;AK075320;AK294068;AK315789;AL121972;AL590428;AMYH02013914;AMYH02013915;AMYH02013916;AMYH02013917;BC020961;BP288187;CH471051;NG_008272;NM_012434;XM_005248710;XM_005248711;XM_006715459 AAF97769;AAH20961;ABM82388;ABW03386;BAC11546;BAG38135;BAG57413;CAB62540;EAW48756;EAW48757;EAW48758;NP_036566;Q9NRA2;XP_005248767;XP_005248768;XP_006715522 Hs.597422 1680741;1796788;2137280;2158291;5015961 D15S1477;RH45718;RH99262;SLC17A5_400;STS-N21319 AST;FLJ22227;FLJ23268;ISSD;NSD;SD;SLD H(+)/nitrate cotransporter;H(+)/sialic acid cotransporter;OTTHUMP00000016747;SIASD;membrane glycoprotein HP59;sialic acid storage disease;sialin;sodium/sialic acid cotransporter;solute carrier family 17 (anion/sugar transporter), member 5;solute carrier family 17 member 5;solute carrier family 17, member 5;vesicular H(+)/Aspartate-glutamate cotransporter APPROVED protein-coding ENSG00000119899 HGNC:10933 05058 269920;604322;604369 REVIEWED 1318484 SLC19A2 solute carrier family 19 (thiamine transporter), member 2 This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. [provided by RefSeq, Jul 2008] 1 1 1 q23.3 142542928 142564985 - 169433147 169455208 - 169463909 169485970 - 1599325;1580863;6480464;7240710;7327184;8554872;8699517 10391221;21149507 10391222;10391223;10542220;10874303;10978358;11286512;12065289;12227830;12454006;12477932;12900388;14615284;14622275;14994241;15952116;16015585;16055442;16371350;16373304;16705148;16710414;17331069;17463047;17659067;18029348;19064610;19322201;19340000;19423748;19536175;19731322;19913121;20301459;20466634;20628086;21906983;21963094;21980494;21988832;22369132;22876572;23285265;23289844;23454484;23589815;23642734;24072090;24509276;24816145;3060175;8889548;9399900 10560 O60779 AB209540;ABBA01027952;AF135488;AF153330;AF158233;AF160186;AF160756;AF160812;AF272359;AJ237724;AJ238413;AK304021;AK313779;AK316465;AL021068;AMYH02002112;AY288293;BC018514;BU608154;CH471067;NG_008255;NM_006996 AAD43534;AAD45985;AAD51280;AAD51283;AAD54242;AAF15129;AAH18514;AAK54468;AAP37965;BAD92777;BAG36517;BAG64936;BAH14836;CAB50770;CAB50771;EAW90843;EAW90844;EAW90845;EAW90846;EAW90847;NP_008927;O60779 Hs.30246 1771779;1796794 SHGC-75880;SLC19A2_1484 TC1;THMD1;THT1;THTR1;TRMA;thTr-1 OTTHUMP00000033497;OTTHUMP00000033498;OTTHUMP00000033499;high affinity thiamine transporter;reduced folate carrier protein (RFC) like;solute carrier family 19 member 2;thiamine transporter 1 APPROVED protein-coding ENSG00000117479 HGNC:10938 04897 249270;603941 REVIEWED 1322863 SLC19A3 solute carrier family 19 (thiamine transporter), member 3 This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010] 2 2 2 q37 222319407 222352201 - 228549926 228582814 - 227685210 227718098 - 1580863;6480464;7240710;7327184;8554872;8699517 21149507 11136550;11731220;12477932;12861052;14770311;15217784;15328374;15489334;15623830;15815621;15871139;16055442;16371350;16705148;16790503;17463047;19423748;19816091;20301334;20930543;21176162;21789241;21988832;22777947;23251661;23285265;23423671;23482991;23989004;24260777;24282057;3060175 80704 B8ZZ39;B8ZZW1;C9IZI1;C9J4J5;E7EM61;Q9BZV2 ABBA01050176;ABBA01050177;ABBA01050178;ABBA01050179;AC064853;AC093762;AF271633;AF283317;AI056985;AK301490;AK312464;AMYH02005925;BC032014;CH471063;NG_016359;NM_025243;XM_005246871;XM_005246874;XM_005246875;XM_006712779 AAG53879;AAH32014;AAK69539;AAX93157;ABM83337;ABM86551;BAG35371;BAH13497;EAW70875;EAW70876;NP_079519;Q9BZV2;XP_005246928;XP_005246931;XP_005246932;XP_006712842 Hs.221597 1721969;2183534 G59870;RH47615 BBGD;THMD2;THTR2;thTr-2 OTTHUMP00000164241;OTTHUMP00000204103;solute carrier family 19, member 3;thiamine transporter 2 APPROVED protein-coding ENSG00000135917 HGNC:16266 07311 606152;607483 REVIEWED 1345199 SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 ENCODES a protein that exhibits chloride channel activity; L-alanine transmembrane transporter activity; L-cystine transmembrane transporter activity; INVOLVED IN chloride transmembrane transport; chloride transport; cognition; FOUND IN cell surface; centrosome; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; copper atom 2 2 2 p15-p13 65061957 65097385 + 65215579 65250999 + 64988445 65023865 + 1580863;6480464 10933718;11268453;11824937;12050356;12477932;12584318;14502423;15489334;15815621;16344560;16820059;16897601;17081065;17106422;18195088;18442140;18638388;19086053;19581412;19946888;20424473;21139048;21906983;21963094;21987572;22053931;22286219;22623531;22916037;24808181;7896285;8101838;8125298;8340364;8603078;8910405 6509 P43007 AB026689;ABBA01075429;AC007386;AK126636;AK223486;AK295687;AK298472;AK313052;AK315986;AMYH02003971;BC007350;BC026216;BC072423;BI553783;CH471053;CR990382;DA214889;DA218921;L14595;L19444;NM_001193493;NM_003038;U05235;XM_006712079 AAA02761;AAA19438;AAC51349;AAF03519;AAH26216;AAH72423;ABM82053;ABM85232;BAA94861;BAD97206;BAG35883;BAH12156;BAH12797;BAH14357;EAW99932;EAW99933;NP_001180422;NP_003029;P43007;XP_006712142 Hs.654352 1656498;1734884;1768015;1775224;1847030;1853615;2111194;2116693;2161879;2168450;5021620 D2S1651E;D2S1652E;D2S2566;D2S2858;D2S2933;D2S421E;RH16636;RH69014;RH70537;SLC1A4;WI-14351 ASCT-1;ASCT1;SATT OTTHUMP00000159933;OTTHUMP00000235138;alanine/serine/cysteine/threonine transporter 1;glutamate/neutral amino acid transporter;neutral amino acid transporter A;solute carrier family 1 member 4 protein-coding ENSG00000115902 HGNC:10942 02576 600229 VALIDATED 1347799 SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5 The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011] 19 19 19 q13.3 44082395 44096097 - 47263587 47292280 - 46760328 46789019 - 1580863;6480464 10051606;10196349;10698697;11350958;11781704;12050356;12175968;12477932;12555937;12584318;12757936;14520239;14702039;15174051;15489334;15845389;15848195;16169070;16196087;16197915;16344560;16435221;16516348;16820059;17081065;17081983;17329400;17353931;17676482;18029348;18157695;18195088;18638388;18781797;19321927;19615732;19946888;20972266;21139048;21145461;21890473;21906983;21963094;21987572;22053931;22238282;22505724;22804921;22939629;22990118;23000965;23213057;23507704;23636801;23798571;24531984;24603303;24639526;24816145;25015289;8702519 6510 M0QX44;M0QXM4;M0R144;Q15758;Q59ES3 AB209738;ABBA01040987;ABBA01040988;AC008622;AF102826;AF105230;AF105423;AF334818;AK055630;AK125222;AK292690;AK293433;AK299137;AK301661;AK316546;AMYH02036237;BC000062;CH471126;DA031076;GQ919058;NM_001145144;NM_001145145;NM_005628;U53347;XM_005259167 AAC50629;AAD09812;AAD09814;AAD27806;AAH00062;AAK77026;ABM83074;ABM86271;ACX53626;BAD92975;BAF85379;BAG56938;BAG61189;BAG63136;BAH14917;EAW57446;NP_001138616;NP_001138617;NP_005619;Q15758;XP_005259224 Hs.631582 1745111;1792844;2217982 GDB:594587;PMC16555P1;SLC1A5_3271 AAAT;ASCT2;ATB(0);ATBO;FLJ31068;M7V1;M7VS1;R16;RDRC RD114 virus receptor;RD114/simian type D retrovirus receptor;baboon M7 virus receptor;neutral amino acid transporter B;neutral amino acid transporter B(0);sodium-dependent neutral amino acid transporter type 2;solute carrier family 1 member 5 APPROVED protein-coding ENSG00000105281 HGNC:10943 00173 109190 VALIDATED 732902 SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 ENCODES a protein that exhibits L-aspartate transmembrane transporter activity (inferred); L-glutamate transmembrane transporter activity (inferred); sodium:dicarboxylate symporter activity (inferred); INVOLVED IN aspartate transport (inferred); dicarboxylic acid transport (inferred); ion transport (inferred); PARTICIPATES IN glutamate signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Golgi apparatus (inferred); integral component of plasma membrane (inferred); membrane (inferred); INTERACTS WITH 3,4-dichloroaniline; all-trans-retinoic acid; calcitriol 19 19 19 p13.12 14956703 14979425 - 15060845 15121455 - 14950033 15010643 - 1580863;6480464;6907045;8554872 11242047;11432999;12477932;15057824;16169070;16344560;17221839;17360917;17442044;19086053;19156168;20424473;20519505;21572047;22302796;22424243;7791878 6511 B7Z7Q5;E7EV13;M0QY32;M0R063;M0R0B5;M0R106;M0R1V3;M0R2V7;P48664 AB209199;ABBA01051087;ABBA01051088;ABBA01051089;ABBA01051090;ABBA01051091;ABBA01051092;AC004659;AK302380;AK312996;AMYH02035638;AMYH02035639;BC028721;BC040604;BI829415;CH471106;DA059558;DA200776;DB027852;DR004792;HY352099;NM_001272087;NM_001272088;NM_005071;NR_073589;U18244;XM_006722842;XM_006722843;XM_006722844 AAA75314;AAC15754;AAH28721;AAH40604;BAD92436;BAH13691;EAW84456;EAW84457;NP_001259016;NP_001259017;NP_005062;P48664;XP_006722905;XP_006722906;XP_006722907 Hs.515217;Hs.733178 1669355;1771965;2129386;5015404;5015861;5015961;5017227;5020885;5022578;5037552;7185938 D10S16;D15S1477;D19S578;D1S1423;D8S2279;G16271;G38154;L17705;L17791;WI-16161 EAAT4;MGC33092;MGC43671 excitatory amino acid transporter 4;sodium-dependent glutamate/aspartate transporter;solute carrier family 1 member 6 protein-coding ENSG00000105143 HGNC:10944 09005 600637 VALIDATED 737399 SLC19A1 solute carrier family 19 (folate transporter), member 1 The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 21 21 21 q22.3 32045498 32073224 - 46934629 46983045 - 45514715 45542471 - 735239;1580863;6480464;7242557;7242426;7327184 11600421;20814827;21149507;22108709 10347183;10830953;11705857;11857541;12087110;12139489;12144527;12175915;12227830;12228234;12411325;12454742;12477932;12519783;12576457;12673279;12707400;12749765;12753319;12855225;14551190;14584080;14602046;15068242;15214842;15297414;15337749;15457444;15469899;15564880;15652157;15797993;15922487;15937947;15964598;16115875;16122883;16225938;16365025;16471213;16750224;16875718;16917939;16923800;16962770;17035141;17113562;17264302;17306382;17311259;17311260;17323057;17325736;17334909;17404734;17436311;17891500;17983788;18028428;18053808;18182479;18322994;18414976;18427977;18499665;18528741;18629538;18635682;18650265;18676680;18776693;18797703;18830263;18988749;19019821;19020309;19048631;19105199;19161160;19170196;19172696;19274320;19324355;19336370;19336437;19340000;19571232;19625176;19650776;19651439;19692168;19706844;19729796;19841321;19913121;20018840;20036773;20037791;20056620;20233025;20235210;20310006;20335220;20371868;20424473;20458436;20468076;20494980;20544798;20557288;20628086;20647221;20651609;20683905;20718043;20737570;20824655;20852008;20890936;21139048;21274745;21507721;21760912;21811990;21890473;21906983;21963094;21987572;22053931;22344739;22475273;22505724;22890010;22975209;23000965;23144806;23148635;23385809;23656756;23669721;23838799;23986219;24100087;24367687;24782176;25074866;7615551;7641195;7763259;7826387;7852378;8276792;9041240;9570943;9602167;9804996 6573 C9J8K6;C9JKP4;E9PIL5;H0Y4T2;H3BTQ3;P41440 AB209069;ABBA01074202;AF004354;AF064602;AK303168;AK307623;AK310797;AK313125;AL163302;AMYH02037933;AY089985;AY089986;AY089987;AY089988;BC003068;BC023005;BC128247;BX322561;CB959876;CB995207;CH471079;DC311922;NG_028278;NM_001205206;NM_001205207;NM_194255;S78996;U15939;U17566;U19720;U92868;U92869;U92870;U92871;U92872;U92873;XM_005261164 AAA74914;AAA98442;AAB35058;AAB61417;AAC26162;AAC50180;AAC78834;AAH03068;AAI28248;ABM82757;ABM85942;BAD92306;BAG35945;BAH13909;CAB90483;EAX09331;EAX09332;EAX09333;EAX09334;EAX09335;EAX09336;EAX09337;NP_001192135;NP_001192136;NP_919231;P41440;XP_005261221 Hs.736903;Hs.84190 1656073;1672188;1687407;1701690;1790665;1797422;2115583;2153526;2164916 COL18A1_540.2;RH78304;RH91121;SHGC-12530;SHGC-8080;SHGC-87711;SHGC-87717;STS-T97724;STS_CEB288 CHMD;FOLT;IFC-1;IFC1;REFC;RFC;RFC1 OTTHUMP00000115459;OTTHUMP00000115460;folate transporter 1;intestinal folate carrier 1;placental folate transporter;reduced folate carrier protein;solute carrier family 19 member 1;solute carrier family 19, member 1 APPROVED protein-coding ENSG00000173638 HGNC:10937 02691 600424 REVIEWED 732126 SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014] 5 5 5 p13 36493385 36575353 + 36606457 36688436 + 36606355 36688334 + 1580863;6480464;6907045;7240710;8554872;8699517 10519046;10570036;10594060;10864655;10915646;11752470;11792462;11826152;12477932;12769187;12911626;12957496;14713304;14749132;15135231;15535133;15718040;15950021;16042756;16061389;16116111;16516348;16877378;17221839;17316900;17581948;17627080;17676873;18081024;18446307;18454440;18657127;18678877;18781797;19086053;19139306;19156168;19283393;19338517;19352218;19736351;19913121;20301317;20628086;21139048;21145461;21233784;21528001;21707071;21711518;21732909;21876140;21906983;21963094;21987572;22026960;22053931;22252783;22292083;22424243;22569537;22706862;23107647;23356950;23415275;23706640;23913256;24332449;7521911;7584044;7698014;7859077;8001975;8123008;8218410;8619474;8647279;9110174 6507 B4DF14;E7EPV5;E7EUS7;E7EUV6;P43003;Q7Z5T0;Q8N169 ABBA01024174;AC008957;AC010631;AF070609;AK057823;AK293886;AK295032;AK295754;AK312304;AMYH02011167;AY954110;BC022285;BC037310;BC054475;BQ019197;CH471119;D26443;DC320625;L19158;NG_015890;NM_001166695;NM_001166696;NM_001289939;NM_001289940;NM_004172;U03504;XM_005248342;XM_006714488;Z31713 AAA50428;AAH37310;AAH54475;AAY28724;BAA05462;BAG35230;BAG57275;BAG58087;BAG58584;CAA83507;EAW55945;EAW55946;NP_001160167;NP_001160168;NP_001276868;NP_001276869;NP_004163;P43003;XP_005248399;XP_006714551 Hs.481918 1675499;1794316;1796796;2111416;2123815;2125194;2127120;2135016;2158890;2164614 D5S1950;L28325;PMC311006P7;RH66388;RH68232;RH69887;RH80751;SGC34127;SLC1A3_404;WI-19296 EA6;EAAT1;FLJ25094;GLAST;GLAST1 GLAST-1;OTTHUMP00000116002;excitatory amino acid transporter 1;sodium-dependent glutamate/aspartate transporter 1;solute carrier family 1 member 3;solute carrier family 1, member 3 APPROVED protein-coding ENSG00000079215 HGNC:10941 02523 600111;612656 REVIEWED 1352627 SLC20A1P1 solute carrier family 20 (phosphate transporter), member 1 pseudogene 1 14 14 14 q32.33 87076933 87078652 - 107138647 107140366 - 106682630 106684349 - 9841928 192127 AB019437;AC245369;NG_001019 1710266 SHGC-85227 pseudo HGNC:20051 VALIDATED 732300 SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Sep 2010] 11 11 11 p13-p12 35420071 35588420 - 35272752 35441610 - 35251205 35420063 - 70006;1302517;1300048;1580863;6480464;6907045;8554872 1448170;9539131 11031254;11038258;11071482;11204345;11357955;11698255;11744157;11792462;11860269;11891650;11994293;12408226;12477932;12578975;12890621;12898275;12950454;14506254;14662797;14702039;14982736;15048885;15135231;15246112;15265858;15296513;15337309;15483603;15494981;15660126;15822905;15927426;16061389;16344560;16567804;16766085;17311293;17311320;17535102;17684493;17823119;17920768;18314905;18326497;18378006;18519826;18658151;18838545;19023027;19086053;19151621;19156168;19268276;19283393;19338517;19527721;19660525;19910676;19998491;20193040;20379614;20398908;20399272;20410850;20416976;20688910;20936779;21098017;21110225;21335552;21471434;21569822;21707071;21711518;21792905;21852380;22069320;22505712;22513140;22522966;22561518;22728822;22750157;22764253;22903028;23023733;23356950;23390085;23415275;23596072;23602887;23706640;23949322;23951268;24068947;24139280;24334928;24855648;7521911;7522567;7587378;8172925;8619474;9110174;9450673;9463476;9585360 6506 A2A2U1;C9J9N5;H0YEB1;H0YEK4;P43004 AB209444;ABBA01060860;ABBA01060861;ABBA01060862;AC090625;AF131756;AF510107;AK054855;AK057674;AK090810;AK122843;AK298769;AL133330;AL157452;AMYH02024592;AMYH02024593;AY066021;BC031313;BC047052;BC132768;BX509751;BX538155;BX648750;CH471064;CR626999;CR627009;CR627022;CR749842;CS448965;D85884;DA158200;DA215039;DB465494;KF455366;KF455367;NG_008727;NM_001195728;NM_001252652;NM_004171;U01824;U03505;XM_005253066;XM_005253067;XM_006718277;Z32517 AAA18900;AAA50429;AAI32769;AAL57716;BAA28706;BAD92681;BAG53756;BAG60911;CAA83532;CAL69850;EAW68141;EAW68142;EAW68143;NP_001182657;NP_001239581;NP_004162;P43004;XP_005253123;XP_005253124;XP_006718340 Hs.502338 1648922;1659020;1659797;1730363;1730415;1731559;1739909;1756917;1768664;1798172;1851590;2113964;2119603;2119605;2130374;2142158;2142226;2169687;2174791;2174793;5022651;5023349;7184694;7185489 A001X30;A005T24;AB056372;D11S1264;D11S2280E;D11S2282E;D11S2323E;D11S2385;D11S2921;D11S4061;D11S941E;D11S945E;G19754;G20481;HSC13E022;NIB521;RH11741;RH64984;RH65376;SHGC-144080;SLC1A2;SLC1A2_2151 EAAT2;GLT-1 OTTHUMP00000165208;OTTHUMP00000165209;OTTHUMP00000165210;excitatory amino acid transporter 2;excitotoxic amino acid transporter 2;glial high affinity glutamate transporter;glutamate/aspartate transporter II;sodium-dependent glutamate/aspartate transporter 2;solute carrier family 1 member 2;solute carrier family 1, member 2 APPROVED protein-coding ENSG00000110436 HGNC:10940 02625 600300 REVIEWED 5487084 SLC20A1P2 solute carrier family 20 (phosphate transporter), member 1 pseudogene 2 14 14 14 q32.33 86565894 86567498 - 106635565 106637149 - 106178885 106180492 - 9841928 192128 AB019440;ABBA01074094;AC247036;NG_001019 pseudo HGNC:42539 VALIDATED 5487956 SLC20A1P3 solute carrier family 20 (phosphate transporter), member 1 pseudogene 3 15 15 q11.1 20171883 20173618 - 19966630 19968365 - 9847074 646052 ABBA01004579;AC127381;AMYH02029973;NG_021113 pseudo HGNC:42538 INFERRED 736350 SLC21A1 solute carrier family 21, member 1 PARTICIPATES IN multispecific organic anion transporter mediated transport pathway; ASSOCIATED WITH Jaundice, Chronic Idiopathic (ortholog) 1598620;625763 12006354;14731123 6577 733735 SLC20A2 solute carrier family 20 (phosphate transporter), member 2 This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 8 8 8 p11.21 41218715 41343998 - 42273980 42397356 - 42416462 42542213 - 1580863;6480464;7207819;7240710;8554872;8699517 21778753 11932396;12205090;12477932;15308749;15955065;16344560;1656098;16790504;17494632;19199708;20301334;20301594;20379614;21586110;21890473;21906983;22327515;23000965;23122642;23334463;23406454;23437308;23939468;24065723;24135862;24463626;7745689;7966619;8041748;8302848 6575 B2RBR4;B4DJ71;E5RGG8;E5RGJ6;E5RGM8;E5RIX1;E5RJW9;Q08357 ABBA01021155;ABBA01021156;ABBA01021157;ABBA01021158;ABBA01021159;AC090739;AC093367;AC107885;AK291202;AK295952;AK314774;AMYH02017896;AMYH02017897;AMYH02017898;AMYH02017899;BC028600;CH471080;DA418477;H10927;L20852;NG_032161;NM_001257180;NM_001257181;NM_006749;XM_005273613;XM_005273615;XM_006716390;XM_006716391 AAA18018;AAH28600;ABM82464;ABM85653;BAF83891;BAG37311;BAG58733;EAW63213;EAW63214;EAW63215;NP_001244109;NP_001244110;NP_006740;Q08357;XP_005273670;XP_005273672;XP_006716453;XP_006716454 Hs.653173;Hs.654763 1643687;1652531;1671747;1675545;1679984;1680797;1683435;1685960;1796798;1853243;1857518;2137482;2166523;7186764 A005T02;D19S1068;D8S1500;D8S1915;D8S2042;D8S291E;RH40591;RH79257;RH79839;RH80329;RH99123;SHGC-37178;SLC20A2_1432 GLVR2;Glvr-2;IBGC1;IBGC3;MLVAR;PIT-2;PIT2;Ram1;hPit2 OTTHUMP00000226062;OTTHUMP00000226063;OTTHUMP00000226064;gibbon ape leukemia virus receptor 2;murine leukemia virus, amphotropic, receptor for;phosphate transporter 2;sodium-dependent phosphate transporter 2;solute carrier family 20 member 2;solute carrier family 20, member 2 APPROVED protein-coding ENSG00000168575 HGNC:10947 08865 158378;213600 REVIEWED 1602951 SLC22A10 solute carrier family 22, member 10 ENCODES a protein that exhibits transmembrane transporter activity (inferred); INVOLVED IN transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; (R)-carnitine (ortholog); 17beta-estradiol (ortholog) 11 11 11 q12.3 60381496 60403314 + 63057372 63079246 + 63289900 63311774 + 6480464 11327718;12372408;12477932;16554811;16712791 387775 B4DJY8;E9PIT2;E9PJB1;E9PMM0;Q63ZE4 AB075876;ABBA01003254;AK296299;AK298430;AMYH02024910;AP001880;BC171744;BK001421;BX091233;CB162810;DR003989;NM_001039752;XM_005273986;XM_006718547;XM_006718548;XR_247202;XR_247203;XR_247204 AAI60176;BAD38658;BAG59000;BAG60651;DAA01503;NP_001034841;Q63ZE4;XP_005274043;XP_006718610;XP_006718611 Hs.188982 1731249;1737909 D11S3511;D11S480 OAT5;hOAT5 OTTHUMP00000228881;OTTHUMP00000228882;OTTHUMP00000230108;organic anion transporter 5;solute carrier family 22 (organic anion/cation transporter), member 10;solute carrier family 22 member 10 protein-coding HGNC:18057 607580 VALIDATED 1353940 SLC22A11 solute carrier family 22 (organic anion/urate transporter), member 11 The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 61649063 61664964 + 64323098 64339002 + 64555626 64571527 + 1580863;6480464;8554872 10660625;11327718;11855680;11907186;11909604;12023506;12024214;12477932;14702039;15037815;15102942;15291761;15489334;15553237;15576633;16236806;16554811;17229912;17602283;18414001;18501590;18985008;19056867;19343046;19400747;19503597;19710015;19861489;19890391;19934028;20015291;20140636;20668102;20884846;22753387;23251661;23263486;8125298 55867 A6NCG2;H7C0B7;H7C3R9;Q9NSA0 AB026116;ABBA01024152;AC044790;AK075127;AK075224;AK129930;AK222869;AK290791;AK296083;AK309931;AMYH02024938;AP001092;AP006288;BC034384;CH471076;HC007278;NM_018484 AAH34384;AAK68155;ABW03305;ABW03648;BAA95316;BAC11419;BAC11483;BAC85252;BAD96589;BAF83480;BAG58838;CBH19444;EAW74269;EAW74270;NP_060954;Q9NSA0 Hs.220844 1684630;1798180;1800688;1802430;1803688;1804374;1804376;1804590;1804854;1805758;1808850;1811678;1817048;1818918;1823560;1828302;1839638;1843706;1844358;1844668;1969168;1969170;1969172;1969174;1969176;1969178;1969180;1969182;1969184;1969186;1969188;1969190;1969192;1969194;1969196;1969198;1969200;1969202;1969204;1969206;1969208;1969210;1969212;1969214;1969216;1969218;1969220;1969222;1969224;1969226;1969228;1969230;1969232;1969234;1969236;1969238;1969240;1969242;1969244;1969246;1969248;1969250;1969252;1969254;1969256;1969258;1969260;1969262;1969264;1969266;1969268;1969270;1969272;1969274;1969276;1969278;1969280;1969282;1969284;1969286;1969288;1969290;1969292;1969294;1969296;1969298;1969300;1969302;1969304;1969306;1969308;1969310;1969312;1969314;1969316;1969318;1969320;1969322;1969324;1969326;1969328;1969330;2116852;2119121;2147018;2214706;2214708;2214710;2214712;2214714;2214716;2214718;2214720;2214722;2214724;2214726;2214728;2214730;2214732;2214734;5020737 ECD01205;ECD02100;ECD02750;ECD03111;ECD03112;ECD03227;ECD03362;ECD03830;ECD05408;ECD06843;ECD09573;ECD10523;ECD12871;ECD15276;ECD21002;ECD23064;ECD23393;ECD23548;REN55463;REN55464;REN55465;REN55466;REN55467;REN55468;REN55469;REN55470;REN55471;REN55472;REN55473;REN55474;REN55475;REN55476;REN55477;REN55478;REN55479;REN55480;REN55481;REN55482;REN55483;REN55484;REN55485;REN55486;REN55487;REN55488;REN55489;REN55490;REN55491;REN55492;REN55493;REN55494;REN55495;REN55496;REN55497;REN55498;REN55499;REN55500;REN55501;REN55502;REN55503;REN55504;REN55505;REN55506;REN55507;REN55508;REN55509;REN55510;REN55511;REN55512;REN55513;REN55514;REN55515;REN55516;REN55517;REN55518;REN55519;REN55520;REN55521;REN55522;REN55523;REN55524;REN55525;REN55526;REN55527;REN55528;REN55529;REN55530;REN55531;REN55532;REN55533;REN55534;REN55535;REN55536;REN55537;REN55538;REN55539;REN55540;REN55541;REN55542;REN55543;REN55544;RH45115;RH68786;RH70001;RH91263;SHGC-37461;SLC22A11_1938;stSG635496;stSG635497;stSG635498;stSG635499;stSG635500;stSG635501;stSG635502;stSG635503;stSG635504;stSG635505;stSG635506;stSG635507;stSG635508;stSG635509;stSG635510 MGC34282;OAT4;hOAT4 OTTHUMP00000042651;OTTHUMP00000069174;OTTHUMP00000069175;organic anion transporter 4;solute carrier family 22 (organic anion/cation transporter), member 11;solute carrier family 22 member 11 APPROVED protein-coding ENSG00000168065 HGNC:18120 06161 607097 REVIEWED 732972 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010] 9 9 9 p24 4412118 4509171 + 4490427 4587469 + 4490427 4587469 + 1580863;6480464;6907045;7240710;8699517;8554872 10701825;11242046;11317217;11823462;12477932;12843260;15135231;15164053;15489334;15716409;16061389;16189514;16198020;16344560;16478724;16566829;16800850;16818866;16818867;16858406;17221839;17360916;17360917;17588938;17630698;17646425;17894418;17991780;18096700;18167356;18286588;18624794;18846501;19056867;19086053;19152386;19156168;19349310;19360657;19569082;19644675;19884611;20155310;20378543;20398908;20410850;20424168;20468064;20634426;21084597;21123949;21445956;21832049;21990008;22095641;22158540;22424243;22479505;22483750;22531293;22532568;22617815;22707712;22776887;23341099;23411042;23564280;23606572;23660601;23695234;23850643;23870195;24162932;24214974;25033183;7521911;7859077;7914198;8020993;8782106;9375691 6505 H0Y7R2;P43005 AB008536;ABBA01065421;AF037982;AF074911;AK313013;AL136231;AL162587;AMYH02019075;BC033040;BQ008494;BQ029108;CB984615;CH471071;CK903716;DA643262;NG_017044;NM_004170;U03506;U06469;U08989 AAA50430;AAA53215;AAA68628;AAC25029;AAC27511;AAH33040;ABM83351;ABM86565;BAB83767;BAG35848;EAW58786;NP_004161;P43005 Hs.444915 1649665;1661304;1673780;1711942;1731423;1735944;1766355;1767119;1798170;2152134;2175093;5122924 D9S1071E;D9S1970;D9S1982;D9S199;G49582;RH11999;RH15877;RH48870;RH70490;SHGC-149694;SHGC-35927;SLC1A1_2172 DCBXA;EAAC1;EAAT3;SCZD18 OTTHUMP00000021006;excitatory amino acid carrier 1;excitatory amino acid transporter 3;neuronal and epithelial glutamate transporter;sodium-dependent glutamate/aspartate transporter 3;solute carrier family 1 member 1;solute carrier family 1, member 1 APPROVED protein-coding ENSG00000106688 HGNC:10939 00597 133550;222730;615232 REVIEWED 1349725 SLC20A1 solute carrier family 20 (phosphate transporter), member 1 The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011] 2 2 2 q13 106789056 106806930 + 113403434 113421402 + 112645857 112663825 + 6480464;7207819 21778753 11009570;12097582;12205090;12477932;12761501;1309898;1531369;15489334;15641067;15815621;16344560;16527991;1672162;16790504;17339538;17494632;18095154;18729813;19322201;19726692;19913121;20628086;2078500;20817733;21048031;21139048;21586110;21796222;21890473;21906983;21963094;21987572;21988832;22053931;22505724;23000965;23308213;23849774;7929240;7966619;8041748;8411375;9528951;9889306 6574 A7LNJ1;H7BZK4;H7BZY1;H7C227;H7C3Q9;Q8WUM9 ABBA01074252;ABBA01074253;AC079922;AK123420;AK312738;AMYH02004591;BC019944;BC075818;BX647555;CH471217;DB086768;EU043383;L20859;NG_028281;NM_005415;XM_005263743;XM_006712712 AAA52572;AAH19944;AAH75818;AAY14922;ABM84488;ABM85164;ABS82764;BAG35609;BAG53902;EAW73597;EAW73598;EAW73599;NP_005406;Q8WUM9;XP_005263800;XP_006712775 Hs.187946;Hs.732750 1655014;1666489;1775797;2139447;2143238 D2S2728;D2S2795;RH46300;RH69666;SHGC-2362 DKFZp686J2397;FLJ41426;GLVR1;Glvr-1;PIT1;PiT-1 OTTHUMP00000161992;gibbon ape leukemia virus receptor 1;leukemia virus receptor 1 homolog;phosphate transporter 1;sodium-dependent phosphate transporter 1;solute carrier family 20 member 1 APPROVED protein-coding ENSG00000144136 HGNC:10946 08846 137570 REVIEWED 1323543 SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 11 11 11 q13.1 61684540 61696078 + 64358113 64369825 + 64590641 64602353 + 1599244;1599245;1580863;6480464;7240710;8554872;8699517 12024214;15634722 12477932;12975309;14531806;14694169;14702039;15304510;15327384;15338274;15772301;15772829;16059895;16344560;16385546;16775029;16837472;16920156;17445045;17567994;17891408;17891652;18409511;18492088;18670416;18701466;18824160;18936980;19019168;19056867;19503597;19762362;19833602;19890391;20139978;20162742;20162743;20714133;21148271;21154327;21211204;21350910;21366895;21544634;21614936;21722610;21768215;22000646;22132991;22194875;22564045;22688828;22797727;22841915;22942308;22971602;23043931;23129426;23148994;23152669;23238572;23263486;23291366;23386035;23544272;23981340;24107611 116085 B3KP53;Q96S37 AB050269;AB071863;ABBA01024150;ABBA01024151;AC044790;AK055737;AK122599;AK309588;AK315061;AMYH02024938;AMYH02024939;AP001092;AX191499;AY358183;BC026291;BC053348;BX104022;CH471076;DA631511;DQ514593;DQ514594;DQ514595;DQ514596;DQ655912;NG_008110;NM_001276326;NM_001276327;NM_144585;NM_153378;XM_005273742;XM_006718430;XM_006718431 AAH26291;AAH53348;AAK68156;AAQ88550;ABF74570;ABF74571;ABF74572;ABF74573;BAB68364;BAB96750;BAG51565;BAG53617;CAC51145;EAW74271;EAW74272;EAW74273;EAW74274;EAW74275;EAW74276;NP_001263255;NP_001263256;NP_653186;NP_700357;Q96S37;XP_005273799;XP_006718493;XP_006718494 Hs.174424;Hs.700182 1687261;1798860;1799964;1801054;1801106;1807868;1810092;1818208;1818552;1818986;1819158;1832246;1834028;1838404;1969484;1969486;1969488;1969490;1969492;1969494;1969496;1969498;1969500;1969502;1969504;1969506;1969508;1969510;1969512;1969514;1969516;1969518;1969520;1969522;1969524;1969526;1969528;1969530;1969532;1969534;1969538;1969540;1969542;1969544;1969546;1969548;1969550;1969552;1969554;1969556;1969558;1969560;1969562;1969564;1969566;1969568;1969570;1969572;1969574;1969576;1969578;1969580;1969582;1969584;1969586;1969588;1969590;1969592;1969594;2214750;2214752;2214754;2214756 ECD00270;ECD00836;ECD01395;ECD01422;ECD04909;ECD06038;ECD10161;ECD10338;ECD10558;ECD10646;ECD17261;ECD18162;ECD20376;REN55621;REN55622;REN55623;REN55624;REN55625;REN55626;REN55627;REN55628;REN55629;REN55630;REN55631;REN55632;REN55633;REN55634;REN55635;REN55636;REN55637;REN55638;REN55639;REN55640;REN55641;REN55642;REN55643;REN55644;REN55645;REN55646;REN55648;REN55649;REN55650;REN55651;REN55652;REN55653;REN55654;REN55655;REN55656;REN55657;REN55658;REN55659;REN55660;REN55661;REN55662;REN55663;REN55664;REN55665;REN55666;REN55667;REN55668;REN55669;REN55670;REN55671;REN55672;REN55673;REN55674;REN55675;REN55676;RH98949;stSG635523;stSG635524;stSG635528;stSG635529 OAT4L;RST;URAT1 OTTHUMP00000042665;OTTHUMP00000069173;OTTHUMP00000239509;OTTHUMP00000239510;organic anion transporter 4-like protein;renal-specific transporter;solute carrier family 22 (organic anion/cation transporter), member 12;solute carrier family 22 member 12;urate anion exchanger 1;urate transporter 1 APPROVED protein-coding ENSG00000197891 HGNC:17989 06160 220150;607096 REVIEWED 1315106 SLC22A14 solute carrier family 22, member 14 This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 38283102 38295539 + 38323785 38360064 + 38282294 38318573 + 1580863;6480464;8554872 10072596;10213508;10231028;12477932;15489334;20379614;20424473 9389 F5H7H1;Q9Y267 AB011082;AB026898;ABBA01024825;AK130497;AK315317;AMYH02006568;AP006193;BC075070;BC075071;BC126482;BC130543;BC144079;CH471055;NM_004803;XM_005265584;XM_005265585;XM_006713416;XM_006713417;XM_006713418 AAH75070;AAH75071;AAI26483;AAI30544;ADR83219;BAA76351;BAA77626;BAG37720;EAW64529;NP_004794;Q9Y267;XP_005265641;XP_005265642;XP_006713479;XP_006713480;XP_006713481 Hs.165559 1659024 D3S3407 MGC163415;OCTL2;OCTL4;ORCTL4 ORCTL-4;OTTHUMP00000161717;OTTHUMP00000209056;OTTHUMP00000209057;organic cation transporter-like 4;organic cationic transporter-like 4;solute carrier family 22 (organic cation transporter), member 14;solute carrier family 22 member 14 APPROVED protein-coding ENSG00000144671 HGNC:8495 06811 604048 VALIDATED 1322509 SLC22A15 solute carrier family 22, member 15 Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004] 1 1 1 p13.1 114747861 114841388 + 116519119 116612675 + 115976498 116070054 + 1580863;6480464;8554872 12372408;12477932;12975309;14702039;20379614 55356 Q8IZD6 ABBA01068482;ABBA01068483;AK055633;AK125072;AL353933;AL357137;AL365318;AMYH02001790;AY145501;AY358258;BC026358;BC030090;BC070033;CH471122;NM_018420;XM_005271004;XM_005271005;XM_005271006;XM_006710753;XM_006710754;XR_426619;XR_426620;XR_426621;XR_426622 AAH26358;AAN52927;AAQ88625;ABM83293;ABM86502;BAG54132;CAB89246;EAW56640;EAW56641;NP_060890;Q8IZD6;XP_005271061;XP_005271062;XP_005271063;XP_006710816;XP_006710817 Hs.125482 1645708;1665560;1672538;1692194;1695164;1701650;1710290 AL009272;AL033734;D1S3407;G48222;RH104469;SHGC-75375;SHGC-85251 DKFZp761G0313;FLIPT1;PRO34686 OTTHUMP00000013798;flipt 1;fly-like putative organic ion transporter 1;fly-like putative transporter 1;solute carrier family 22 (organic cation transporter), member 15;solute carrier family 22 member 15;trans-like protein APPROVED protein-coding ENSG00000163393 HGNC:20301 608275 VALIDATED 1352553 SLC22A18AS solute carrier family 22 (organic cation transporter), member 18 antisense INTERACTS WITH (S)-nicotine; aflatoxin B1; cyclosporin A 11 11 11 p15.5 2944041 2959889 - 2909327 2925175 - 2888097 2903945 - 6480464 12477932;15175115;15489334;18721868;9520460;9570947 5003 Q8N1D0 ABBA01032078;AC001228;AC013791;AF035407;AF037066;AMYH02024198;AMYH02024199;BC030237;CH471158;LN608372;LN608374;NM_007105 AAC04789;AAC17497;AAH30237;EAX02526;EAX02527;NP_009036;Q8N1D0 Hs.300076 1699660;1699664;2107587 RH103434;RH103436;SLC22A1LS__6843 BWR1B;BWSCR1B;ORCTL2S;SLC22A1LS;p27-BWR1B Beckwith-Wiedemann region 1B;Beckwith-Wiedemann syndrome chromosome region 1, candidate b;OTTHUMP00000229183;beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein;organic cation transporter-like 2 antisense;organic cation transporter-like protein 2 antisense protein;p27-Beckwith-Wiedemann region 1 B;solute carrier family 22 (organic cation transporter), member 1-like antisense;solute carrier family 22 member 1-like antisense protein;solute carrier family 22 member 18 antisense protein protein-coding ENSG00000254827 HGNC:10965 09127 603240 VALIDATED 1348088 SLC22A17 solute carrier family 22, member 17 ENCODES a protein that exhibits transmembrane signaling receptor activity (ortholog); INVOLVED IN siderophore transport (ortholog); FOUND IN integral component of organelle membrane; integral component of plasma membrane; INTERACTS WITH copper(2+) sulfate; cyclosporin A; genistein 14 14 14 q11.2 3678238 3684791 - 23815520 23822380 - 23346311 23352998 - 1580863;6480464 12477932;15489334;16377569;17253959;18029348;19047093;21139048;21184133;21305251;21763306;22728279;22932106 51310 H9KVA1;Q8WUG5 ABBA01061320;AJ243122;AJ243653;AK308661;AK311241;AL049829;AMYH02028869;BC020565;BC030559;BC090870;BC111015;BF345519;BI758221;BX161416;BX647316;CH471078;DQ658848;NM_001289050;NM_016609;NM_020372;NR_110290;XM_005267747;XM_005267748;XR_245694 AAH20565;AAH90870;AAI11016;ABG45942;ADZ16095;CAC01119;CAC17762;CAD61891;EAW66165;EAW66166;NP_001275979;NP_057693;NP_065105;Q8WUG5;XP_005267804;XP_005267805 Hs.373498 2107585;2150069;2179226 SLC22A17__6842;WI-13550;WI-15014 24p3R;BOCT;BOIT;NGALR;NGALR2;NGALR3 24p3 receptor;NGAL receptor;OTTHUMP00000082690;OTTHUMP00000082691;OTTHUMP00000164598;brain-type organic cation transporter;hBOIT;lipocalin-2 receptor;neutrophil gelatinase-associated lipocalin receptor;potent brain type organic ion transporter;solute carrier family 22 (organic cation transporter), member 17;solute carrier family 22 member 17 protein-coding ENSG00000092096 HGNC:23095 15349 611461 VALIDATED 1350768 SLC22A18 solute carrier family 22, member 18 This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Two alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Oct 2010] 11 11 11 p15.5 2955665 2981127 + 2920951 2946476 + 2899721 2925246 + 6480464;8554872;8699517 11076855;11925925;12477932;15342556;15489334;16314844;16344560;16624517;18996451;19414484;19946888;20201924;20301425;20705733;21144813;21890473;21906983;21936894;21963094;22153794;22237119;23514245;9499412;9520460;9570947;9744804;9751628;9802569 5002 E9PMN7;E9PRM7;Q96BI1 AB012083;ABBA01032077;ABBA01032078;AC001228;AC013791;AF028738;AF030302;AF037064;AF059663;AF070479;AF313150;AL832892;AMYH02024198;AMYH02024199;AW452749;BC015571;BG489795;BG684685;BM561526;BP350681;CH471158;DA582280;NG_011512;NM_002555;NM_183233;XM_005252952;XM_005252953;XM_006718243;XM_006725127;XM_006725128 AAB82727;AAC04787;AAC14725;AAC17492;AAC23505;AAH15571;ABW03589;BAA32779;CAH10416;EAX02528;EAX02529;EAX02530;NP_002546;NP_899056;Q96BI1;XP_005253009;XP_005253010;XP_006718306;XP_006725190;XP_006725191 Hs.50868 1699660;1699664;1791770;5014051;5022200;5037552 D8S2278;D8S2279;L18426;PMC124986P2;RH103434;RH103436 BWR1A;BWSCR1A;DKFZp667A184;HET;IMPT1;ITM;ORCTL2;SLC22A1L;TSSC5;p45-BWR1A Beckwith-Wiedemann syndrome chromosome region 1, candidate A;ORCTL-2;OTTHUMP00000011731;OTTHUMP00000011732;OTTHUMP00000011733;OTTHUMP00000012598;beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein;efflux transporter-like protein;imprinted multi-membrane spanning polyspecific transporter-related protein 1;imprinted multi-membrane-spanning polyspecific transporter-related protein 1;organic cation transporter-like 2;organic cation transporter-like protein 2;p45 Beckwith-Wiedemann region 1A;p45-Beckwith-Wiedemann region 1 A;solute carrier family 22 (organic cation transporter), member 1-like;solute carrier family 22 member 1-like;solute carrier family 22 member 18;tumor-suppressing STF cDNA 5 protein;tumor-suppressing subchromosomal transferable fragment candidate gene 5 protein APPROVED protein-coding ENSG00000110628 HGNC:10964 04024 602631 REVIEWED 732626 SLC22A1 solute carrier family 22 (organic cation transporter), member 1 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008] 6 6 6 q25.3 161188634 161224539 + 160542821 160580147 + 160121789 160159111 + 6480464;6907045;7244192;7243179;7243180;7243885;7243178;7243877;7243881;7794727;7243879 18313662;19002567;20814153;21154198;21835768;21909718;22414646;22722338;23228442 10541551;11136971;11388889;11447227;11543633;11752456;12439217;12439218;12477932;12719534;14697261;15135235;15389554;15499200;15817714;16141367;16597591;17111267;17220237;1727476;17393420;17476361;17568400;17609683;17635184;17701831;17934801;17971819;18483382;18559609;18669873;19021069;19141860;19336679;19343046;19381165;19536068;19584153;19591196;19833842;19898263;19950608;19954617;20143233;20173083;20363215;20371711;20379614;20424473;20429798;20445576;20660041;20679960;20680652;20682687;20686565;20720558;20921968;20959405;20960210;21044367;21104302;21743057;21886157;21988832;22202118;22207690;22483271;22498645;22508387;22718759;22735389;22810231;22875535;22913740;23144633;23223357;23272163;23333304;23440379;23532667;23545524;23836662;23859569;23922447;23929842;24097068;24117365;24399729;24469953;7690421;8902060;9078256;9187257;9260930;9605850;9933568 6580 F5GY86;F5H5P3;O15245 ABBA01021058;AJ243995;AK289887;AL353625;AMYH02014878;AV684761;BC126364;CH471051;NM_003057;NM_153187;U77086;X98332;XM_005267102;XM_005267103;XM_005267104;XM_005267105;XM_006715552 AAB67703;AAI26365;ADR83047;BAF82576;CAA66977;CAB95971;EAW47603;EAW47604;EAW47605;EAW47606;NP_003048;NP_694857;O15245;XP_005267159;XP_005267160;XP_005267161;XP_005267162;XP_006715615 Hs.117367 1761279 SHGC-145283 HOCT1;OCT1;oct1_cds OTTHUMP00000017537;OTTHUMP00000238949;OTTHUMP00000238993;OTTHUMP00000238994;organic cation transporter 1;solute carrier family 22 member 1 APPROVED protein-coding ENSG00000175003 HGNC:10963 04007 602607 REVIEWED 1342518 SLC22A2 solute carrier family 22 (organic cation transporter), member 2 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008] 6 6 6 q25.3 161284724 161329224 - 160637794 160679963 - 160216762 160258931 - 1580863;6480464;7243877;7243180;7243880;7243881;7243878;2312728;7243884;7243882;8548480;7243885;7243178;7243177;7243179;7794727;7243879;7243883;7244192;8554872 12110012;15748710;18313662;18612803;19002567;19356064;19625999;20814153;21154198;21167265;21835768;21909718;22414646;22722338;23228442;23280877;24278698 10942111;11447227;11483518;11953440;12089365;12142729;12388397;12477932;12538837;15135235;15499192;15817714;16024787;16141367;16314463;16368738;16513443;16951202;16990275;17060063;17111267;17220237;1727476;17393420;17495125;17971819;18029348;18401339;18414781;18508876;18551044;18559608;18728938;19056867;19343046;19483665;19536068;19833842;19913121;20053795;20067471;20173083;20371711;20383145;20383146;20429798;20628086;20679960;20682687;21128598;21346370;21553234;21988832;22085643;22223530;22483271;22525860;22569819;22573376;22590580;22735389;22875535;22913740;23341218;23424657;23545524;23630107;23776246;23864433;24427340;7690421;8902060;9078256;9260930;9605850;9687576;9933568 6582 O15244;Q5T7Q5 AB075951;ABBA01021057;ABBA01021058;AJ251885;AK290787;AL162582;AMYH02014879;AMYH02014880;BC030978;BC039899;CH471051;NM_003058;X98333 AAH30978;AAH39899;BAC02720;BAF83476;CAA66978;CAB96133;EAW47601;EAW47602;NP_003049;O15244 Hs.436385 1786160;1798182 SHGC-81309;SLC22A2_2598 MGC32628;OCT2;hOCT2 OTTHUMP00000017538;organic cation transporter (OCT2);organic cation transporter 2;solute carrier family 22 member 2 APPROVED protein-coding ENSG00000112499 HGNC:10966 04008 602608 REVIEWED 1602395 SLC22A20 solute carrier family 22, member 20 SLC22A20 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008] 11 11 11 q13.1 62307628 62336670 + 64981311 65010579 + 65213840 65242757 + 6480464 12477932;14702039;15369770;15869325;16341674;16478971;17714910 440044 A6NK97 ABBA01024129;ABBA01024130;ABBA01024131;ABBA01024132;AK094565;AK131327;AMYH02024953;AMYH02024954;AP000828;AP003068;BC146850;BM826695;CH471076;DN831898;DN831899;DQ053017;DY654625;DY654969;KF459762;NM_001004326;NR_033396;XM_005274009 A6NK97;AAI46851;BAD18487;EAW74372;NP_001004326;XP_005274066 Hs.532372 1681754;1685762;1687744;5020274 L18441;RH27707;RH27708;RH98698 FLJ16331;FLJ37246;Oat6 organic anion transporter 6;solute carrier family 22 member 20 APPROVED protein-coding HGNC:29867 16913 611696 VALIDATED 1344136 SLC22A16 solute carrier family 22 (organic cation/carnitine transporter), member 16 This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011] 6 6 6 q22.1 111492526 111544454 - 110745890 110797844 - 110424687 110476641 - 6480464;8554872 12089149;12372408;12384147;12477932;14702039;15963465;17197897;17473959;17559346;17581421;20037140;20179710;20453000;23503679 85413 B4E330;C9JGT0;C9JTF8;C9JU94;Q86VW1;X6RE50 AB055798;ABBA01026118;ABBA01026119;AC002464;AF268892;AI632467;AK057306;AK304546;AL050350;AMYH02014286;AY145502;BC012014;BC037247;BC047565;CH471051;KF458253;NM_033125;XM_005267184 AAB67044;AAH12014;AAH47565;AAK58593;AAN52928;ADZ15999;BAB71419;BAC23062;BAG65342;EAW48313;EAW48314;EAW48315;NP_149116;Q86VW1;XP_005267241 Hs.520319 1756339;1848298;2154915;2158333;5094014 A010A38;G17048;G33056;RH17540;SHGC-143321 CT2;FLIPT2;OAT6;OCT6;OKB1;dJ261K5.1 OTTHUMP00000017785;OTTHUMP00000017786;WUGSC:RG331P03.1;carnitine transporter 2;flipt 2;fly-like putative organic ion transporter 2;fly-like putative transporter 2;organic cation transporter 6;organic cation transporter OKB1;organic cation/carnitine transporter 6;solute carrier family 22 (organic cation transporter), member 16;solute carrier family 22 member 16 APPROVED protein-coding ENSG00000004809 HGNC:20302 12202 608276 VALIDATED 1606386 SLC22A25 solute carrier family 22, member 25 INVOLVED IN transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (R)-carnitine (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q12.3 60255372 60321199 - 62930523 63005415 - 63163051 63237943 - 6480464;8554872 12477932;14702039;15054140;17714910;18466105 387601 A4IF29;E9PJ86;H0YCA2;H0YCS4;Q6T423 ABBA01003253;AK091990;AK127610;AMYH02024909;AMYH02024910;AP001880;AP003420;AY437532;AY517500;BC101314;BC101315;BC101316;BC101317;CH471076;NM_199352;XM_005273985;XM_006718546;XR_247201 AAI01315;AAI01316;AAI01317;AAI01318;AAI60048;AAR84082;AAS76641;BAC03786;BAC87056;EAW74138;EAW74139;EAW74140;EAW74141;EAW74142;EAW74143;NP_955384;Q6T423;XP_005274042;XP_006718609 Hs.332119 1666231;2122313;2158968;2173686 G31510;RH46376;RH78704;WI-16867 HIMTP;MGC120420;UST6 MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750;OTTHUMP00000229406;OTTHUMP00000229427;organic anion transporter UST6;putative UST1-like organic anion transporter;solute carrier family 22 member 25 protein-coding ENSG00000196600 HGNC:32935 14198 610792 VALIDATED 1323639 SLC1A7 solute carrier family 1 (glutamate transporter), member 7 ENCODES a protein that exhibits L-glutamate transmembrane transporter activity (inferred); sodium:dicarboxylate symporter activity (inferred); INVOLVED IN dicarboxylic acid transport (inferred); ion transport (inferred); L-glutamate transport (inferred); PARTICIPATES IN glutamate signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH chlorpyrifos (ortholog); potassium dichromate (ortholog) 1 1 1 p32.3 51840827 51896289 - 53552855 53608304 - 53087179 53142632 - 1580863;6907045;6480464;8554872 12107412;12477932;14702039;15123239;15737648;18976975;19086053;19913121;20424473;20628086;21408207;21697133;21988832;22745009;9108121 6512 F1T0D3;F1T0D4;G1CT06;O00341 AB593059;AB593060;AB593061;ABBA01074746;AK093921;AL445183;AMYH02001034;BC000651;BC012119;BC017242;CD672672;CH471059;JF917096;JX162773;NM_001287595;NM_001287596;NM_001287597;NM_006671;NR_109858;U76362 AAB53971;AAH00651;AAH12119;AAH17242;ABM83225;ABM86424;AEI69348;AGA00108;BAG52786;BAJ84006;BAJ84007;BAJ84008;EAX06754;EAX06755;NP_001274524;NP_001274525;NP_001274526;NP_006662;O00341 Hs.104637 1677388;1798174;2158595 G35927;RH94229;SLC1A7_1966 AAAT;EAAT5;FLJ36602 OTTHUMP00000010489;excitatory amino acid transporter 5;excitatory amino acid transporter 5 (retinal glutamate transporter);excitatory amino acid transporter 5a long;retinal glutamate transporter;solute carrier family 1 member 7 protein-coding ENSG00000162383 HGNC:10945 09194 604471 VALIDATED 1351828 SLC22A3 solute carrier family 22 (organic cation transporter), member 3 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008] 6 6 6 q25.3 161420905 161527486 + 160769405 160873613 + 160348373 160452579 + 70010;1580863;6480464;7243178;7794727;8554872 22722338;23228442;9632645 10196521;10942111;10966924;11129104;11682442;11770002;12110607;12477932;12538837;12768439;14690517;14702039;15135235;15553237;16024787;16141367;17010131;17393420;17474147;17477885;18253050;18264097;18295396;18794092;19198611;19219857;19318432;19366831;19423541;19549807;19591196;19789190;19866473;19900942;19902474;20371711;20379614;20429798;20450899;20460480;20562519;20690139;20717903;20878950;21071540;21242260;21493818;21636115;21697722;21900290;21905038;22095909;22231567;22730461;22741436;23036009;23071104;23303678;23555006;24262325;24471494;9830022;9933568 6581 O75751;Q96KH7 ABBA01021054;AF078749;AI810629;AJ001417;AJ251884;AJ403946;AK096980;AK314590;AL355506;AL591069;AMYH02014880;BC144280;BP320971;CH471051;NM_021977;XM_005267106;XM_005267107;XR_245546 AAD20977;AAI56539;AAI72500;BAG37164;CAA04751;CAB96132;CAC39443;EAW47599;NP_068812;O75751;XP_005267163;XP_005267164 Hs.567337 1712737;1720291;1761813;1765741;1765743;1789585;1789587;1796806;2116286;2145609;2190377;2217768;7186466 A007E40;D6S2067;EMT_F1R1;EMT_F2R1;EMT_F2R2;PLG_3841;RH121066;RH123894;RH1524;SHGC-145768;SHGC-149174;SHGC-149175;SLC22A3_408 EMT;EMTH;OCT3 EMT organic cation transporter 3;OTTHUMP00000017542;extraneuronal monoamine transporter;organic cation transporter 3;solute carrier family 22 (extraneuronal monoamine transporter), member 3;solute carrier family 22 member 3 APPROVED protein-coding ENSG00000146477 HGNC:10967 05328 604842 REVIEWED 1603866 SLC22A24 solute carrier family 22, member 24 SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008] 11 11 11 q12.3 60171467 60235772 - 62847412 62911693 - 63079940 63144221 - 6480464 12477932;16189514;17714910 283238 C9JC66;Q8N4F4 ABBA01003253;AMYH02024907;AMYH02024908;AMYH02024909;AP001858;BC034394;KF459672;NM_001136506;NM_173586 AAH34394;ABM81754;ABM84909;NP_001129978;NP_775857;Q8N4F4 Hs.375139 1737281 D11S3145 MGC34821;NET46 OTTHUMP00000229553;hypothetical protein mgc34821;solute carrier family 22 member 24 APPROVED protein-coding ENSG00000197658 HGNC:28542 14591 611698 VALIDATED 5135309 SLC22A31 solute carrier family 22, member 31 ENCODES a protein that exhibits transmembrane transporter activity (inferred); INVOLVED IN ion transport (inferred); transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate 16 16 16 q24.3 74328237 74332278 - 89262169 89267757 - 89195761 89201349 - 6480464 15616553 146429 A6NKX4;S4R3Q8 ABBA01014159;ABBA01014160;AC009113;AL137382;AMYH02032658;NM_001242757;XM_006721145;XM_006721146;XM_006721147 A6NKX4;NP_001229686;XP_006721208;XP_006721209;XP_006721210 Hs.447544;Hs.743726 putative solute carrier family 22 member 31;putative solute carrier family 22 member ENSG00000182157 protein-coding ENSG00000259803 HGNC:27091 VALIDATED 1347503 SLC22A23 solute carrier family 22, member 23 SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008] 6 6 6 p25.2 4498122 4685667 - 3269207 3456954 - 3268973 3456720 - 6480464;8554872 12477932;16344560;17714910;19068216;19174780;19422935;19760754;20379614;20886065;20921969;21072187;21102463;21906983;23251661;24204828;8125298 63027 A1A5C7;C9IZW5;C9J4Z0;F8WBC7;H7C4T9;Q9UFY2 ABBA01048614;ABBA01048615;ABBA01048616;ABBA01048617;AJ420525;AK000691;AK025033;AK025827;AK172770;AK225936;AK308282;AK308943;AL110245;AL160398;AL445309;AL512737;AMYH02012997;AMYH02012998;AMYH02012999;AMYH02013000;BC022217;BC038748;BC040876;BC090851;BC128580;BC128581;CH471087;DB050701;NM_001286455;NM_001286456;NM_015482;NM_021945;NR_104448;XM_005249285;XM_006715165 A1A5C7;AAH22217;AAH40876;AAI28581;AAI28582;BAB15054;BAB15250;BAD18753;CAB53695;EAW55132;EAW55133;EAW55134;EAW55135;NP_001273384;NP_001273385;NP_056297;NP_068764;XP_005249342;XP_006715228 Hs.713588 1646563;1646565;1656088;1656090;1665436;1674551;1698604;1701530;1754447;1758715;1776322;1786148;1787644;1787646;1847747;1855386;2118870;2123609;2126044;2148048;2150870;2171761 A002C03;A005L18;D6S1193E;G17018;G17022;G19913;G20307;HSCZXB092;RH102856;RH104398;RH16218;RH46670;RH46781;RH48236;SHGC-132582;SHGC-149253;SHGC-156009;SHGC-156010;SHGC-36291;SHGC-77744;WI-13800;WI-18225 C6orf85;DKFZp434F011;FLJ22174 OTTHUMP00000015966;OTTHUMP00000213939;OTTHUMP00000213940;OTTHUMP00000213955;OTTHUMP00000213957;OTTHUMP00000213958;chromosome 6 open reading frame 85;ion transporter protein;solute carrier family 22 member 23 APPROVED protein-coding ENSG00000137266 HGNC:21106 12904 611697 VALIDATED 1315683 SLC22A13 solute carrier family 22 (organic anion/urate transporter), member 13 This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine. [provided by RefSeq, Sep 2008] 3 3 3 p21.3 38242927 38255435 + 38307298 38320161 + 38265807 38278670 + 1580863;6480464;8554872 10072596;10213508;10231028;12477932;15489334;16344560;18411268;19056867;19282870;19536068;20379614;24147638 9390 B4DPK1;H0Y4Y1;Q9Y226 AB010438;AB026898;ABBA01024825;AK298375;AK315301;AMYH02006567;AP000499;AP006193;BC035973;CH471055;DA629093;DA629311;NM_004256;XR_245163 AAH35973;BAA76350;BAA77625;BAG37706;BAG60613;EAW64526;EAW64527;EAW64528;NP_004247;Q9Y226 Hs.225941 2108919 SLC22A13__5428.2 OAT10;OCTL1;OCTL3;ORCTL-3;ORCTL3 OTTHUMP00000161721;organic cation transporter-like 3;organic cationic transporter-like 3;organic-cation transporter like 3;solute carrier family 22 (organic anion transporter), member 13;solute carrier family 22 member 13;solute carrier family 22, member 13 APPROVED protein-coding ENSG00000172940 HGNC:8494 06810 604047 REVIEWED 732952 SLC22A8 solute carrier family 22 (organic anion transporter), member 8 This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010] 11 11 11 q11 60084341 60107363 - 62760296 62783317 - 62992824 63015845 - 1580863;6480464;6907045;8554872 10049739;11855680;11912245;12477932;12811365;14586168;14984259;15037815;15342556;15489334;15644426;15846473;16291576;16344560;16455804;16648942;16793932;17502342;17556638;17578901;17585018;18414781;19034961;19056867;19343046;19878671;19956635;20237588;21164499;21865262;21945944;22108572;22589738;23630107;23649425;23832370 9376 B2R807;H7BXN9;Q8TCC7 AB042505;AB209692;ABBA01003251;ABBA01003252;ABBA01003253;AF097491;AK298341;AK298351;AK307850;AK313187;AMYH02024905;AP001858;BC022387;BP276255;CH471076;DA628705;DA633836;NM_001184732;NM_001184733;NM_001184736;NM_004254 AAD19357;AAH22387;ABM82943;ABM86133;BAB47393;BAD92929;BAG36004;BAG60589;BAG60596;EAW74133;EAW74134;EAW74135;NP_001171661;NP_001171662;NP_001171665;NP_004245;Q8TCC7 Hs.266223 1646182;1648604;1782238;2218810 D11S4404;SHGC-105128;SLC22A8_2492;WI-14966 MGC24086;OAT3;hOAT3 OTTHUMP00000236800;OTTHUMP00000236801;OTTHUMP00000236802;OTTHUMP00000236803;OTTHUMP00000236804;organic anion transporter 3;solute carrier family 22 ,member 8;solute carrier family 22 member 8 APPROVED protein-coding ENSG00000149452 HGNC:10972 607581 REVIEWED 732686 SLC22A7 solute carrier family 22 (organic anion transporter), member 7 The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 44817758 44825036 + 43265737 43273276 + 43298260 43305538 + 70525;1580863;6480464;6907045;8554872 9650585 10773670;11327718;11855680;11907186;12023506;12477932;16344560;18216183;19343046;19854166;21446918;22190696;22981274;23263486 10864 Q5T047;Q5T051;Q8WWC3;Q9Y694;X6RDF7 AA705161;ABBA01050688;AF097518;AF210455;AI928177;AK290796;AK290806;AK309570;AK314822;AL583834;AMYH02013643;AY050498;BC017963;BC033805;CH471081;DA640137;EU562669;KF459596;NM_006672;NM_153320;XM_006714970;XM_006714971;XM_006714972;XM_006714973 AAD37091;AAG43523;AAH17963;AAH33805;AAL12496;ABM84540;ABM87843;ACB21045;BAF83485;BAF83495;BAG37344;EAX04171;EAX04172;EAX04173;EAX04174;EAX04175;EAX04176;NP_006663;NP_696961;Q9Y694;XP_006715033;XP_006715034;XP_006715035;XP_006715036 Hs.485438 1778724;1796810 D6S1790;SLC22A7_1483 MGC24091;MGC45202;NLT;OAT2;hOAT2 OTTHUMP00000016426;OTTHUMP00000016428;OTTHUMP00000016429;liver-specific transporter;novel liver transporter;organic anion transporter 2;solute carrier family 22 member 7 APPROVED protein-coding ENSG00000137204 HGNC:10971 05409 604995 REVIEWED 1343950 SLC22A9 solute carrier family 22 (organic anion transporter), member 9 ENCODES a protein that exhibits anion:anion antiporter activity; short-chain fatty acid uptake transporter activity; sodium-independent organic anion transmembrane transporter activity; INVOLVED IN hormone transport; short-chain fatty acid import; sodium-independent organic anion transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN basolateral plasma membrane; INTERACTS WITH 17beta-estradiol; acetylsalicylic acid; aflatoxin B1 11 11 11 q13.1 60461355 60501820 + 63137142 63177731 + 63369670 63410919 + 1580863;6480464;8554872 10660625;11327718;12409283;12477932;14702039;15037815;15489334;15553237;17341544;17393504;18365245;18414781;18466105;18501590;19371258;20379614;22566634 114571 Q8IVM8 AB062418;AB074812;ABBA01003254;AF440402;AJ295270;AK074246;AMYH02024910;AP000484;AP001880;BC022379;BC126288;CH471076;NM_080866;XM_006718429 AAH22379;AAI26289;AAP97316;ADR83039;BAB83517;BAB85030;BAF51552;CAC82910;EAW74146;EAW74147;EAW74148;NP_543142;Q8IVM8;XP_006718492 Hs.502772 1677184;1771655;1782512;1849523;2178158;2219696;5093730 A009V38;G32890;RH78712;RH79253;SHGC-37520;SHGC-84429;SLC22A9_2575 FLJ23666;HOAT4;OAT4;OAT7;UST3H;ust3 OTTHUMP00000236911;organic anion transporter 4;organic anion transporter 7;solute carrier family 22 (organic anion/cation transporter), member 9;solute carrier family 22 member 9 protein-coding ENSG00000149742 HGNC:16261 06982 607579 VALIDATED 1342862 SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1 The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 5 5 5 q31.2 134824593 134840618 - 138702885 138720632 - 139367196 139384943 - 634186;1580863;6480464;8554872 10331392 10395795;10471399;10556483;10556521;10631088;11396616;11584081;11895172;11984580;12381735;12388072;12477932;14702039;15084584;15489334;15993839;16344560;16357110;17008880;17258485;17474147;17575980;17664139;18094143;18247577;18417304;18619416;18636124;18676680;18791929;18818748;18845575;19019335;19056867;19170196;19216494;19243932;19379732;19527514;19625176;19692168;19741195;20453000;20471816;20519558;20588054;21733302;22348976;23014846;23599041;23613229;23837633;24284447;24815519;9804989 9963 H0Y902;H0YAJ1;Q9UHI7 ABBA01068638;AC135457;AF058317;AF098277;AF170911;AF375875;AI478520;AJ250807;AJ269477;AK092655;AK290789;AK298337;AK300935;AMYH02012317;AMYH02012318;BC019225;BC050261;CH471062;DA385445;KF458016;NM_005847;NM_152685;XM_005272148;XM_005272149;XM_006714741;XM_006714742;XM_006714743 AAC78804;AAF22490;AAF24759;AAH19225;AAH50261;AAK97398;BAF83478;BAG52585;BAG60585;BAG62564;CAB58119;CAC15384;EAW62106;NP_005838;NP_689898;Q9UHI7;XP_005272205;XP_005272206;XP_006714804;XP_006714805;XP_006714806 Hs.643467 1780646;2217984 SLC23A1_2967;bac51505T MGC22361;SLC23A2;SVCT1;YSPL3;hSVCT1 Na(+)/L-ascorbic acid transporter 1;OTTHUMP00000224289;OTTHUMP00000224290;sodium-dependent vitamin C transporter 1;sodium-dependent vitamin C transporter-1;solute carrier family 23 (nucleobase transporters), member 1;solute carrier family 23 (nucleobase transporters), member 2;solute carrier family 23 member 1;yolk sac permease-like molecule 3 APPROVED protein-coding ENSG00000170482 HGNC:10974 04810 603790 REVIEWED 1342925 SLC23A4P solute carrier family 23 (nucleobase transporters), member 4, pseudogene 7 7 7 q33 129699443 129735780 - 134961969 134998313 - 135277217 135313561 - 12845532;20042597 641842 ABBA01001115;AC009542;AMYH02016815;CH236950;NG_006548 SLC23A4 APPROVED pseudo HGNC:20602 INFERRED 1345783 SLC23A3 solute carrier family 23, member 3 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; hydralazine; hydroquinone O-beta-D-glucopyranoside 2 2 2 q35 213795898 213804533 - 220026181 220035549 - 219161459 219170095 - 1580863;6480464 11181995;12477932;14702039;18391951;20368287;20546612;7588067 151295 B7Z508;C9JQ03;F8W735;F8WET7;H7C2A2;Q6PIS1;Q6ZV11 ABBA01023851;AC068946;AK055730;AK298256;AK298277;AMYH02005815;AMYH02005816;BC030243;CH471063;DC361649;DQ294736;DQ294737;NM_001144889;NM_001144890;NM_144712 AAH30243;ABC17635;ABC17636;ABM81945;ABM85125;BAB70999;BAH12744;BAH12748;EAW70681;EAW70682;EAW70683;NP_001138361;NP_001138362;NP_653313;Q6PIS1 Hs.124565 1699050;1798186;5037552 D8S2279;RH103100;SLC23A3_1795 E2BP3;FLJ31168;SVCT3;Yspl1 E2-binding protein 3;HPC E2-binding protein 3;Na(+)/L-ascorbic acid transporter 3;OTTHUMP00000206280;OTTHUMP00000206283;OTTHUMP00000206287;sodium-dependent vitamin C transporter 3;solute carrier family 23 (nucleobase transporters), member 3;solute carrier family 23 member 3 APPROVED protein-coding ENSG00000213901 HGNC:20601 15350 VALIDATED 619572 SLC22A6 solute carrier family 22 (organic anion transporter), member 6 The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q12.3 60068114 60076514 - 62744069 62752495 - 62976597 62985023 - 1580863;68822;6480464;8554872 9228014 10049739;10462545;10964714;11855680;12429554;12472777;12477932;12874449;14644751;14702039;14749323;14984259;15037815;15039295;15145940;15200431;15284288;15864112;15914676;16024787;16046403;16164645;16189514;16344560;16648942;16920720;17038320;17344191;17353191;17502342;17585018;18365245;18818201;19034961;19056867;19060904;19082692;19088254;19308960;19343046;19400747;19403644;19854166;19892921;21164499;21832049;21865262;21945944;22108572;23255614;23630107;23640180;23832370;9762842;9887087;9950961 9356 F5H0T7;Q4U2R8 AB009697;AB009698;ABBA01003250;AF057039;AF097490;AF104038;AF124373;AI017670;AJ249369;AJ251529;AJ271205;AK055764;AK091879;AK298374;AMYH02024905;AP001858;BC033682;CH471076;DA628191;DA629600;DB320467;EU567146;NM_004790;NM_153276;NM_153277;NM_153278 AAC70004;AAD10052;AAD19356;AAD55356;AAH33682;ABM83006;ABM86199;ACB21049;BAA75072;BAA75073;BAG51569;BAG52435;BAG60612;CAB77184;CAB94830;CAB97249;EAW74129;EAW74130;EAW74131;EAW74132;NP_004781;NP_695008;NP_695009;NP_695010;Q4U2R8 Hs.369252 2126009 RH78059 FLJ55736;HOAT1;MGC45260;OAT1;PAHT;ROAT1;hPAHT;hROAT1 OTTHUMP00000236796;OTTHUMP00000236797;OTTHUMP00000236798;OTTHUMP00000236799;PAH transporter;organic anion transporter 1;para-aminohippurate transporter;renal organic anion transporter 1;solute carrier family 22 member 6;solute carrier family 22, member 6 APPROVED protein-coding ENSG00000197901 HGNC:10970 12125 607582 REVIEWED 733281 SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 127760255 127809972 + 131630145 131679899 + 132294452 132344206 + 6480464;7240710;8548480;8554872 24278698 10215651;12388627;12436193;12477932;12504088;12788076;14531806;14608356;15107849;15184985;15459889;15489334;15523054;15553237;15685536;15693005;15751072;15795384;15832501;15883854;15955786;16246312;16249223;16255050;16333318;16344053;16344054;16361305;16373276;16437728;16441470;16469794;16519742;16519819;16652416;16670523;16729965;16771961;16773684;16796743;16821265;16835882;17006998;17100974;17213842;17340776;17387389;17451203;17476680;17509030;17609683;17609685;17700366;17786191;18064451;18087673;18162085;18274826;18328148;18338763;18433468;18466472;18614543;18641280;18668679;18709696;18715515;18756601;18804983;19103559;19131452;19141711;19158815;19214536;19412005;19439218;19528813;19536068;19581171;19605748;19656490;19659785;19660151;19814996;19881261;20020740;20031577;20224991;20379614;20485362;20846217;20877624;21102463;21122496;21606177;21674708;21695374;21706137;21793125;21816865;21886157;21910182;22182480;22206629;22325173;22412388;22569296;23127916;23128233;23709046;24850141;9426230;9703985;9808712 6583 Q9H015 AB007448;ABBA01068808;AC008599;AC034220;AK310818;AMYH02012214;AMYH02012215;BC028313;CH471062;CS240059;KF459897;NG_012129;NM_003059;XM_006714675;Y09881 AAH28313;ABM81742;ABM84898;BAA23356;CAA71007;CAJ56219;EAW62340;NP_003050;Q9H015;XP_006714738 Hs.310591 1660823;1799788;1800010;1801620;1801960;1802478;1802594;1802664;1806684;1807204;1808158;1809134;1809136;1810242;1811062;1811686;1811858;1812018;1812924;1813072;1815526;1816184;1816186;1816818;1816894;1817650;1818638;1827028;1827786;1828654;1829874;1830238;1830784;1830886;1831150;1831920;1834094;1834478;1834480;1835978;1837744;1838728;1843884;1844132;1844796;1845078;1846106;1846398;1854008;1997502;1997504;1997506;1997508;1997510;1997512;1997514;1997516;1997518;1997520;1997522;1997524;1997526;1997528;1997530;1997532;1997534;1997536;1997538;1997540;1997542;1997544;1997546;1997548;1997550;1997552;1997554;1997556;1997558;1997560;1997562;1997564;1997566;1997568;1997570;1997572;1997574;1997576;1997578;1997580;1997582;1997584;1997586;1997588;1997590;1997592;1997594;1997596;1997598;1997600;1997602;1997604;1997606;1997608;1997610;1997612;1997614;1997616;1997618;1997620;1997622;1997624;1997626;1997628;1997630;1997632;1997634;1997636;1997638;1997640;1997642;1997644;1997646;1997648;1997650;1997652;1997654;1997656;1997658;1997660;1997662;1997664;1997666;1997668;1997670;1997672;1997674;1997676;1997678;1997680;1997682;1997684;1997686;1997688;1997690;1997692;1997694;1997696;1997698;1997700;1997702;1997704;1997706;1997708;1997710;1997712;1997714;1997716;1997718;1997720;1997722;1997724;1997726;1997728;1997730;1997732;1997734;1997736;1997738;1997740;1997742;1997744;1997746;1997748;1997750;1997752;1997754;1997756;1997758;1997760;1997762;1997764;1997766;1997768;1997770;1997772;1997774;1997776;1997778;1997780;1997782;1997784;1997786;1997788;1997790;1997792;1997794;1997796;1997798;1997800;1997802;1997804;1997806;1997808;1997810;1997812;1997814;1997816;1997818;1997820;1997822;1997824;1997826;1997828;1997830;1997832;1997834;1997836;1997838;1997840;1997842;1997844;1997846;1997848;1997850;1997852;1997854;1997856;1997858;1997860;1997862;1997864;1997866;1997868;1997870;1997872;1997874;1997876;1997878;1997880;1997882;1997884;1997886;1997888;1997890;1997892;1997894;1997896;1997898;1997900;1997902;1997904;1997906;1997908;1997910;1997912;1997914;1997916;1997918;1997920;1997922;1997924;1997926;1997928;1997930;1997932;1997934;1997936;1997938;2095852;2095854;2095856;2095858;2095860;2095862;2095864;2095866;2095868;2095870;2095872;2095874;2095876;2095878;2095880;2095882;2095884;2095886;2095888;2095890;2095892;2095894;2095896;2095898;2095900;2095902;2095904;2095906;2095908;2119806;2179348 A004O42;ECD00748;ECD00860;ECD01688;ECD01861;ECD02125;ECD02184;ECD02219;ECD04299;ECD04568;ECD05060;ECD05556;ECD05557;ECD06113;ECD06529;ECD06847;ECD06933;ECD07014;ECD07476;ECD07555;ECD08799;ECD09132;ECD09133;ECD09455;ECD09493;ECD09877;ECD10383;ECD14629;ECD15015;ECD15454;ECD16070;ECD16253;ECD16528;ECD16579;ECD16711;ECD17098;ECD18195;ECD18387;ECD18388;ECD19150;ECD20040;ECD20542;ECD23153;ECD23279;ECD23614;ECD23756;ECD24273;ECD24419;L28271;REN69662;REN69663;REN69664;REN69665;REN69666;REN69667;REN69668;REN69669;REN69670;REN69671;REN69672;REN69673;REN69674;REN69675;REN69676;REN69677;REN69678;REN69679;REN69680;REN69681;REN69682;REN69683;REN69684;REN69685;REN69686;REN69687;REN69688;REN69689;REN69690;REN69691;REN69692;REN69693;REN69694;REN69695;REN69696;REN69697;REN69698;REN69699;REN69700;REN69701;REN69702;REN69703;REN69704;REN69705;REN69706;REN69707;REN69708;REN69709;REN69710;REN69711;REN69712;REN69713;REN69714;REN69715;REN69716;REN69717;REN69718;REN69719;REN69720;REN69721;REN69722;REN69723;REN69724;REN69725;REN69726;REN69727;REN69728;REN69729;REN69730;REN69731;REN69732;REN69733;REN69734;REN69735;REN69736;REN69737;REN69738;REN69739;REN69740;REN69741;REN69742;REN69743;REN69744;REN69745;REN69746;REN69747;REN69748;REN69749;REN69750;REN69751;REN69752;REN69753;REN69754;REN69755;REN69756;REN69757;REN69758;REN69759;REN69760;REN69761;REN69762;REN69763;REN69764;REN69765;REN69766;REN69767;REN69768;REN69769;REN69770;REN69771;REN69772;REN69773;REN69774;REN69775;REN69776;REN69777;REN69778;REN69779;REN69780;REN69781;REN69782;REN69783;REN69784;REN69785;REN69786;REN69787;REN69788;REN69789;REN69790;REN69791;REN69792;REN69793;REN69794;REN69795;REN69796;REN69797;REN69798;REN69799;REN69800;REN69801;REN69802;REN69803;REN69804;REN69805;REN69806;REN69807;REN69808;REN69809;REN69810;REN69811;REN69812;REN69813;REN69814;REN69815;REN69816;REN69817;REN69818;REN69819;REN69820;REN69821;REN69822;REN69823;REN69824;REN69825;REN69826;REN69827;REN69828;REN69829;REN69830;REN69831;REN69832;REN69833;REN69834;REN69835;REN69836;REN69837;REN69838;REN69839;REN69840;REN69841;REN69842;REN69843;REN69844;REN69845;REN69846;REN69847;REN69848;REN69849;REN69850;REN69851;REN69852;REN69853;REN69854;REN69855;REN69856;REN69857;REN69858;REN69859;REN69860;REN69861;REN69862;REN69863;REN69864;REN69865;REN69866;REN69867;REN69868;REN69869;REN69870;REN69871;REN69872;REN69873;REN69874;REN69875;REN69876;REN69877;REN69878;REN69879;REN69880;RH79048;STS-U46120;stSG601175;stSG601177;stSG601178;stSG601179;stSG601181;stSG601182;stSG601184;stSG601185;stSG601186;stSG601187;stSG601189;stSG601190;stSG601191;stSG601192;stSG601193;stSG601196;stSG601197;stSG601198;stSG601199;stSG601202;stSG601203;stSG601204;stSG601205;stSG601206;stSG601207;stSG601208;stSG601209;stSG601210;stSG601211 MGC34546;MGC40524;OCTN1 ET transporter;OTTHUMP00000065971;ergothioneine transporter;integral membrane transport protein;organic cation transporter octn1;organic cation/carnitine transporter 1;solute carrier family 22 (organic cation/ergothioneine transporter), member 4;solute carrier family 22 member 4 APPROVED protein-coding ENSG00000197208 HGNC:10968 09171 180300;604190 REVIEWED 730928 SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 9 9 9 p22.1 19433508 19714554 - 19507450 19789059 - 19507452 19789059 - 1580863;6480464;6893550;7204698 17716241;18690016 10662833;12477932;12502543;12525183;15164053;15196038;15489334;15583008;15611132;15909993;17038313;17164249;17172467;17286855;17303823;17303830;17332073;17446453;17446491;18166528;19240061;19734545;20231282;23224872;23517042;8889548 25769 Q9UI40 ABBA01065193;ABBA01065194;ABBA01065195;ABBA01065196;AF097366;AF177987;AK127092;AL133281;AL158077;AL158206;AMYH02019264;AMYH02019265;AMYH02019266;AMYH02019267;AMYH02019268;AMYH02019269;AMYH02019270;BC037528;BC069622;BC143889;BU736451;CH471071;DQ067462;DQ067463;DQ067464;NG_029734;NM_001193288;NM_020344;XM_005251425;XM_005251426;XM_006716750 AAF21810;AAF25811;AAH69622;AAI43890;EAW58633;NP_001180217;NP_065077;Q9UI40;XP_005251482;XP_005251483;XP_006716813 Hs.283014;Hs.590750;Hs.738749 1340615;1341030;1650342;1698982;1711384;1724123;1724599;7183406 D9S162;D9S1684;G42174;RH103060;RH119062;RH121296;SHGC-7540 FLJ45149;NCKX2 Na(+)/K(+)/Ca(2+)-exchange protein 2;OTTHUMP00000021125;OTTHUMP00000021126;retinal cone Na-Ca+K exchanger;sodium/potassium/calcium exchanger 2;solute carrier family 24 member 2 APPROVED protein-coding ENSG00000155886 HGNC:10976 15351 609838 REVIEWED 733710 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq, Jul 2008] 5 5 5 q23.3 127835468 127861380 + 131705396 131731306 + 132369704 132395614 + 1580608;1580609;1580610;1580611;1580863;1624241;6480464;7240710;8554872;8699517 12408185;12802501;15107849;15487009;3974805 10072434;10425211;10454528;10480371;10545605;10559218;10612840;10679939;12183691;12477932;12684216;14506273;14665638;14684825;14702039;15238359;15303004;15486076;15489334;15499185;15523054;15553237;15647998;15685536;15714519;15955786;16255050;16333318;16344053;16344054;16344560;16361305;16373276;16437728;16441470;16469794;16490820;16519742;16652416;16670523;16771961;16773684;16796743;16835882;16931768;17006998;17100974;17213842;17274673;17340776;17387389;17417720;17451203;17476680;17509030;17509700;17703373;17725851;17786191;17977516;18005709;18162085;18274826;18337137;18338763;18433468;18641280;18646596;18668679;18698678;18715515;18756601;18762717;18804983;19056867;19091402;19131452;19141711;19214536;19238580;19322201;19343046;19412005;19578876;19581171;19659785;19735486;19814996;19913121;20020740;20031577;20208395;20370797;20379614;20485362;20558736;20574985;20601676;20628086;20846217;20860503;20881960;21102463;21125992;21126579;21287663;21606177;21695374;21706137;21793125;21864509;21906983;21910182;21922592;21963094;22118696;22212555;22325173;22374795;22389472;22420015;23127916;23128233;23382691;24146874;24250222;25119904;9618255;9634512;9685390;9916797 6584 F8WCC9;H7BZC0;H7BZF0;H7C1R8;O76082 AB015050;AB016625;AB209484;AB291606;ABBA01068808;AC004628;AC118464;AF057164;AK128610;AK313230;AMYH02012215;AY429569;BC012325;CH471062;DA186237;DA567722;GN007377;KF457996;NG_008982;NM_003060;XM_005272055;XM_006714676;XR_427718 AAC24828;AAH12325;ABM84597;ABM86744;BAA29023;BAA36712;BAC87527;BAD92721;BAF45812;BAG36041;CAX30725;EAW62337;EAW62338;EAW62339;NP_003051;O76082;XP_005272112;XP_006714739 Hs.443572 1676798;1679339;1735530;1740467;1753883;1796808;1798900;1798932;1799054;1799432;1800844;1801358;1801534;1803042;1803188;1803248;1803554;1803926;1804754;1805994;1806580;1809758;1810324;1820764;1821258;1821922;1824302;1825654;1825976;1827650;1827958;1828308;1828430;1840998;1846176;1998108;1998110;1998112;1998114;1998116;1998118;1998120;1998122;1998124;1998126;1998128;1998130;1998132;1998134;1998136;1998138;1998140;1998142;1998144;1998146;1998148;1998150;1998152;1998154;1998156;1998158;1998160;1998162;1998164;1998166;1998168;1998170;1998172;1998174;1998176;1998178;1998180;1998182;1998184;1998186;1998188;1998190;1998192;1998194;1998196;1998198;1998200;1998202;1998204;1998206;1998208;1998210;1998212;1998214;1998216;1998218;1998220;1998222;1998224;1998226;1998228;1998230;1998232;1998234;1998236;1998238;1998240;1998242;1998244;1998246;1998248;1998250;1998252;1998254;1998256;1998258;1998260;1998262;1998264;1998266;1998268;1998270;1998272;1998274;1998276;1998278;1998280;1998282;1998284;1998286;1998288;1998290;1998292;1998294;1998296;1998298;1998300;1998302;1998304;1998306;1998308;1998310;1998312;1998314;1998316;1998318;1998320;1998322;1998324;1998326;1998328;1998330;1998332;1998334;1998336;1998338;1998340;1998342;1998344;1998346;1998348;1998350;2095928;2095930;2095932;2095934;2095936;2095938;2095940;2095942;2095944;2095946;2095948;2095950;2095952;2095954;2095956;2095958;2095960;2095962;2122234;5016478;5093936 A009Z13;D5S1664E;D5S2265E;ECD00291;ECD00307;ECD00372;ECD00567;ECD01285;ECD01551;ECD01645;ECD02412;ECD02485;ECD02517;ECD02678;ECD02877;ECD03309;ECD03950;ECD04247;ECD05871;ECD06154;ECD11457;ECD11706;ECD12047;ECD13249;ECD13935;ECD14097;ECD14945;ECD15102;ECD15279;ECD15341;ECD21692;ECD24308;G33010;GDB:434012;REN69966;REN69967;REN69968;REN69969;REN69970;REN69971;REN69972;REN69973;REN69974;REN69975;REN69976;REN69977;REN69978;REN69979;REN69980;REN69981;REN69982;REN69983;REN69984;REN69985;REN69986;REN69987;REN69988;REN69989;REN69990;REN69991;REN69992;REN69993;REN69994;REN69995;REN69996;REN69997;REN69998;REN69999;REN70000;REN70001;REN70002;REN70003;REN70004;REN70005;REN70006;REN70007;REN70008;REN70009;REN70010;REN70011;REN70012;REN70013;REN70014;REN70015;REN70016;REN70017;REN70018;REN70019;REN70020;REN70021;REN70022;REN70023;REN70024;REN70025;REN70026;REN70027;REN70028;REN70029;REN70030;REN70031;REN70032;REN70033;REN70034;REN70035;REN70036;REN70037;REN70038;REN70039;REN70040;REN70041;REN70042;REN70043;REN70044;REN70045;REN70046;REN70047;REN70048;REN70049;REN70050;REN70051;REN70052;REN70053;REN70054;REN70055;REN70056;REN70057;REN70058;REN70059;REN70060;REN70061;REN70062;REN70063;REN70064;REN70065;REN70066;REN70067;REN70068;REN70069;REN70070;REN70071;REN70072;REN70073;REN70074;REN70075;REN70076;REN70077;REN70078;REN70079;REN70080;REN70081;REN70082;REN70083;REN70084;REN70085;REN70086;REN70087;RH79575;RH80552;SHGC-89446;SLC22A5_409;stSG601225;stSG601227;stSG601228;stSG601229;stSG601231;stSG601232;stSG601233;stSG601234;stSG601236;stSG601237;stSG601238;stSG601239;stSG601241;stSG601242;stSG601243;stSG601244;stSG601246;stSG601247 CDSP;FLJ46769;OCTN2;OCTN2VT OTTHUMP00000065961;high-affinity sodium dependent carnitine cotransporter;high-affinity sodium-dependent carnitine cotransporter;organic cation transporter 2;organic cation transporter 5;organic cation/carnitine transporter 2;solute carrier family 22 (organic cation transporter), member 5;solute carrier family 22 member 5;solute carrier family 22, member 5 APPROVED protein-coding ENSG00000197375 HGNC:10969 04539 212140;603377 REVIEWED 1353786 SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2 The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008] 20 20 20 p13 4902706 5051861 - 4833002 4990939 - 4852356 5010293 - 634186;1580613;1580863;6480464 10331392;16357110 10395795;10471399;10556521;10631088;10748165;10915794;11396616;11780052;11984580;12168954;12477932;14993613;15060139;15340249;15489334;15921655;15993839;16380174;17012227;17092984;17291984;17664139;18247577;18417304;18614995;18619416;18636124;18676680;18791929;18845575;19162177;19170196;19216494;19232538;19243932;19346260;19625176;19692168;19926816;19953087;20379614;20453000;20471816;20588054;21139048;21335086;21733302;21770893;21906983;21988832;22171153;22348976;23288661;23401652;23613229;23837633;23990905;23999113;24401033;24815519;9039502;9804989 9962 H0Y544;Q9UGH3 AB075494;ABBA01053860;ABBA01053861;ABBA01053862;ABBA01053863;AF058319;AF092511;AF164142;AI742576;AJ269478;AJ292318;AK296304;AK297253;AL109841;AL121890;AL389886;AMYH02036631;AMYH02036632;AMYH02036633;AY380556;BC013112;BC073895;CH471133;D87075;DQ011866;EF032501;NG_029959;NM_005116;NM_203327;XM_005260904;XM_006723671 AAC78806;AAD11783;AAF80493;AAH13112;AAQ79775;AAY26157;ABK34450;BAA13244;BAG59003;BAG59732;CAB58120;CAC83100;EAX10438;EAX10439;EAX10440;EAX10441;EAX10442;NP_005107;NP_976072;Q9UGH3;XP_005260961;XP_006723734 Hs.516866 1650195;1670449;1711982;1748767;1764229;1766291;1798184;2163730;2172775 RH118444;RH47957;SHGC-110394;SHGC-147858;SHGC-149645;SLC23A2_2187;T03153;Z94315;Z94337 KIAA0238;NBTL1;SLC23A1;SVCT2;YSPL2;hSVCT2 Na(+)/L-ascorbic acid transporter 2;OTTHUMP00000030173;OTTHUMP00000030174;nucleobase transporter-like 1 protein;sodium-dependent vitamin C transporter 2;sodium-dependent vitamin C transporter-2;solute carrier family 23 (nucleobase transporters), member 1;solute carrier family 23 (nucleobase transporters), member 2;solute carrier family 23 member 2;yolk sac permease-like molecule 2 APPROVED protein-coding ENSG00000089057 HGNC:10973 04811 603791 REVIEWED 1321543 SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008] 15 15 15 q21.1 25305700 25327109 + 48413169 48434926 + 48120972 48142392 + 6480464;7204698;8699517;7240710;8554872 17716241 12477932;14625281;15489334;16357253;16847698;17081065;17952075;17999355;18166528;18637132;18650849;19060277;19336370;19384953;19944766;20691427;23224873;23364476;23985994;24048645;24244186 283652 H0YLZ0;Q71RS6 ABBA01039143;AC090526;AF348468;AMYH02030388;BC073944;BC113628;BC113630;BC143950;CH471082;DQ665306;DQ665307;NG_011500;NM_205850;XM_005254308 AAH73944;AAI13629;AAI13631;AAI43951;AAQ15116;ABG66958;ABG66959;ADR83033;EAW77335;NP_995322;Q71RS6;XP_005254365 Hs.710240 1665883;1754565;1796380;1850922;2125790;2150842 MYEF2_1816;RH45837;RH78227;SHGC-132846;SHGC-53423;STS-N31726 JSX;NCKX5;OCA6;SHEP4 Na(+)/K(+)/Ca(2+)-exchange protein 5;OTTHUMP00000162219;ion transporter JSX;oculocutaneous albinism 6 (autosomal recessive);sodium/potassium/calcium exchanger 5;solute carrier family 24, member 5 APPROVED protein-coding ENSG00000188467 HGNC:20611 18055 113750;609802 REVIEWED 1343333 SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 22 22 22 q11.21 3015039 3018281 - 19163088 19166338 - 19175575 19178863 - 1580863;6480464;8699517;7240710;8554872 12477932;15342556;15489334;15576338;17314511;17353931;18706393;19056867;19167051;19240061;19445897;19505435;19654186;19738201;20186120;20448665;20877624;21081666;21103663;21139048;21660517;21787310;21890473;21906983;21987572;22178446;22268729;22286219;22355067;22797925;22916037;22939629;23266187;23393310;23464991;23561848;24244333;24337577;24654937;8514800;8660975;8666394;8776594;8889548;8944226;9254007 6576 B4DP62;D9HTE9;P53007 ABBA01005421;AC004463;AK292313;AK298204;AMYH02038036;AW161974;AW249250;BC004980;BC008061;BC018590;BG473148;BI159897;BI160240;BI560375;BM679710;BP265446;CH471176;DB557173;DR006840;HM037273;HY040162;L75823;L76134;L77567;NG_033863;NM_001256534;NM_001287387;NM_005984;NR_046298;U25147;X96924 AAB08515;AAH04980;AAH08061;AAL40090;AAL40091;ABM83842;ABM87164;ABM87169;ADI78884;BAF85002;BAG60474;CAA65633;EAX03048;EAX03049;EAX03050;EAX03051;NP_001243463;NP_001274316;NP_005975;P53007 Hs.111024 1656539;2110741;2112182;2112418;2149363 D22S1571;D22S1621;G19115;SGC31622;SLC25A1_7880 CTP;D2L2AD;SEA;SLC20A3 OTTHUMP00000196366;OTTHUMP00000196405;citrate transport protein;solute carrier family 20 (mitochondrial citrate transporter), member 3;solute carrier family 25 member 1;tricarboxylate carrier protein;tricarboxylate transport protein, mitochondrial APPROVED protein-coding ENSG00000100075 HGNC:10979 01832 190315;615182 REVIEWED 1350550 SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 17 17 17 q25.3 76324691 76333300 + 79679266 79688046 + 81712236 81721016 + 634162;1580863;6480464 9733776 10072589;10585886;12477932;14970193;15117959;15489334;16027120;16043481;16189514;16303743;18029348;19060904;19167051;19447967;19622634;20186120;20562859;20877624;20921139;20949348;21139048;21437236;21555518;21890473;21987572;22178446;22268729;22354994;22939629;22990118;23259602;23266187;23464991;23752268;23798571;24250222;24457600;24778252;24816145 1468 B4DLN1;B4E1E9;I3L1E8;I3L3N9;Q9UBX3 ABBA01032160;ABBA01032161;AC139530;AI081980;AJ131612;AJ131613;AK075249;AK303808;AMYH02034134;BC007355;BC015797;BM561945;CH471099;CQ783360;HY259124;NM_001270888;NM_001270953;NM_012140;XM_005257074 AAH07355;AAH15797;ABM84189;ABM87591;BAC11497;BAG64761;CAB59892;CAB60007;CAF86566;EAW89681;EAW89682;NP_001257817;NP_001257882;NP_036272;Q9UBX3;XP_005257131 Hs.548187 1682299 RH94066 DIC dicarboxylate ion carrier;mitochondrial dicarboxylate carrier;solute carrier family 25 member 10 APPROVED protein-coding ENSG00000183048 HGNC:10980 08424 606794 REVIEWED 732504 SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011] 17 17 17 p13.3 4855235 4858273 - 4840425 4843462 - 4937130 4940167 - 1580863;6480464;8554872 10072597;12477932;12939596;1457818;15489334;16169070;16712791;16920706;17082780;17314511;18781797;19615732;19913121;20186120;20562859;20628086;20877624;21081666;21139048;21448454;21500544;21890473;21906983;21987572;22268729;22505724;22678362;22939629;22990118;23054077;23125841;23246001;23266187;23464991;23658844;23798571;24457600;24816145;25027693;8597574;8619474;8769314;9110174;9639574 8402 I3L1P8;Q02978;Q6IBH0 AA937945;ABBA01054784;AC004771;AC109333;AF070548;AK290376;AK313010;AMYH02032837;BC006508;BC006519;BC016294;BC016473;BC017170;BI752999;BM047391;CB155476;CH471108;CR456834;NM_001165417;NM_001165418;NM_003562;X66114 AAC28637;AAH06508;AAH06519;AAH16294;AAH17170;ABM82078;ABM85257;BAF83065;CAA46905;CAG33115;EAW90389;EAW90390;EAW90391;EAW90392;NP_001158889;NP_001158890;NP_003553;Q02978 Hs.184877 1768417;2108921;2134420;2178189;2189363 MARC_2889-2890:991933627:9;RH11767;SHGC-31613;SLC25A11_3257.2;STS-T79192 OGC;OGCP;SLC20A4 2-oxoglutarate carrier;OTTHUMP00000216308;mitochondrial 2-oxoglutarate/malate carrier protein;solute carrier family 20 (oxoglutarate carrier), member 4;solute carrier family 25 member 11 APPROVED protein-coding ENSG00000108528 HGNC:10981 05003 604165 VALIDATED 736859 SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 15 15 15 q22 42792100 42826427 + 65903618 65953334 + 65611280 65660996 + 1580863;6480464;6893550;6907045;7204698;8699517;7240710;8554872 17716241;18690016 10608890;10662833;12037007;12477932;12600216;12693957;14770312;17474147;18976975;20139978;20850105;7539424;9478004;9734811;9856482 9187 B4DUG1;F5H127;F5H483;H0YH06;O60721 AB014602;ABBA01038845;ABBA01038846;ABBA01038847;AC011939;AC027220;AF026132;AF062921;AF062922;AI026072;AK300633;AK304006;AMYH02030631;BC012630;BC029407;BC117263;BC143375;BM129630;BM681488;CH471082;EL947516;EL948740;NG_031968;NM_001254740;NM_001301031;NM_001301032;NM_001301033;NM_004727;XM_005254778;XM_005254779;XM_005254780;XM_005254781;XM_006720764;XM_006720765;XM_006720766;XM_006720767;XM_006720768;XM_006720769 AAB97832;AAC16732;AAC77912;AAI17264;AAI43376;BAA31677;BAG62323;BAG64922;EAW77739;EAW77740;EAW77741;NP_001241669;NP_001287960;NP_001287961;NP_001287962;NP_004718;O60721;XP_005254835;XP_005254836;XP_005254837;XP_005254838;XP_006720827;XP_006720828;XP_006720829;XP_006720830;XP_006720831;XP_006720832 Hs.173092;Hs.617821 1649307;1798188;5093586;5491334 A009S19;G32806;PMC150727P6;SLC24A1_1761.2 CSNB1D;HsT17412;KIAA0702;NCKX;NCKX1;RODX Na(+)/K(+)/Ca(2+)-exchange protein 1;OTTHUMP00000237477;OTTHUMP00000237511;OTTHUMP00000237512;retinal rod Na+/Ca+/K+ exchanger;retinal rod Na-Ca+K exchanger;sodium/calcium/potassium exchanger;sodium/potassium/calcium exchanger 1;solute carrier family 24 member 1 APPROVED protein-coding ENSG00000074621 HGNC:10975 04685 603617;613830 REVIEWED 6480846 SLC25A14P1 solute carrier family 25 (mitochondrial carrier, brain), member 14 pseudogene 1 4 4 q21.23 84398674 84399574 + 83477521 83478421 + 100288343 ABBA01063465;AC096768;AMYH02009618;NG_030222 pseudo HGNC:43856 INFERRED 1323000 SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 7 7 7 q21.3 90449390 90651529 - 95749532 95951459 - 96120220 96322147 - 1599241;1599242;1580863;6480464;7240710;8554872;8699517 10369257;11153906 10610724;10642534;11281457;11343052;11432966;11566871;11793471;12111366;12424587;12477932;12851387;12853948;15174051;15489334;16059747;16196087;16278034;16344560;16928234;17000460;17092749;17314511;17982687;18029348;18392553;18578996;18620775;18958581;19036621;19167051;19232506;19401682;19517266;19596235;19598235;19615732;20186120;20233664;20301360;20376801;20379614;20458766;20614727;20739017;20877624;20927635;21134364;21139048;21252943;21424115;21470889;21507300;21706016;21890473;21914561;22178446;22268729;22277121;22304920;22360420;22487826;22504420;22586326;22797925;22939629;23022256;23053473;23067347;23266187;23464991;23798571;23901231;24069319;24244333;24282362;24337577;24927999;25027693;8125298 10165 Q9UJS0;R4GN64 ABBA01045770;ABBA01045771;ABBA01045772;ABBA01045773;ABBA01045774;AC002450;AC002540;AC004458;AC084368;AC096775;AF118838;AJ496569;AK000766;AK025227;AK025779;AK222864;AK294629;AMYH02016301;AMYH02016302;BC006566;CH236949;CH471091;DA118296;DA696723;KF458521;KF458522;NG_012247;NM_001160210;NM_014251;NR_027662;XM_006715830;XM_006715831;XM_006715832;XM_006715833;XM_006715834;Y17571 AAB67049;AAB70112;AAD38501;AAH06566;AAS07441;AAS07513;AAS07527;ABM83777;ABM87097;BAD96584;BAH11828;CAB62206;CAD43091;EAW76748;EAW76749;NP_001153682;NP_055066;Q9UJS0;XP_006715893;XP_006715894;XP_006715895;XP_006715896;XP_006715897 Hs.489190 1336536;1779358;1849967;1933716;2119246;2135930;2140606;2187131;2187154 A006W14;D7S1812;D7S2374;REN37691;SHGC-153354;SHGC-35735;SHGC-37627;SHGC-53039;SHGC-56158 ARALAR2;CTLN2 CITRIN;OTTHUMP00000024692;calcium-binding mitochondrial carrier protein Aralar2;mitochondrial aspartate glutamate carrier 2;solute carrier family 25 member 13;solute carrier family 25, member 13 (citrin) APPROVED protein-coding ENSG00000004864 HGNC:10983 04837 603471;603859;605814 REVIEWED 735914 SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008] 20 20 20 p13 19267475 19777636 + 19193290 19703541 + 19212646 19722897 + 1580863;6480464;7204698;8554872 17716241 11294880;11780052;20031604;20379614;21321244;22424883;24132900 57419 Q9HC58 ABBA01054060;ABBA01054061;ABBA01054062;ABBA01054063;ABBA01054064;ABBA01054065;ABBA01054066;ABBA01054067;ABBA01054068;ABBA01054069;ABBA01054070;ABBA01054071;ABBA01054072;ABBA01054073;AF169257;AF288087;AL034425;AL049647;AL121761;AL121830;AL136090;AL139429;AL139827;AMYH02036792;AMYH02036793;AMYH02036794;AMYH02036795;AMYH02036796;AMYH02036797;CH471133;KF456844;NM_020689 AAG12988;AAI41433;EAX10219;EAX10220;NP_065740;Q9HC58 Hs.654790 1653689;1660058;1666373;1704962;1706568;1708072;1712018;1712923;1723211;1729510;1731507;1752985;1770883;1773719;1776022;1784340;2118038;2121877;2129780;2140284;2143867;2145290;2166865;2172143;2173944;2181212 A008U36;AL031192;AL031193;AL031209;D20S1040;D20S139;D20S40;D20S804;G18128;RH118679;RH120551;RH122289;SHGC-102685;SHGC-32038;SHGC-77737;SHGC-77980;SHGC-81264;SHGC-81433;WI-11208;Z94345;Z94352;Z94382;Z94526;Z94579;Z94601;Z94614 NCKX3 Na(+)/K(+)/Ca(2+)-exchange protein 3;OTTHUMP00000030370;sodium calcium exchanger;sodium/potassium/calcium exchanger 3;solute carrier family 24 member 3 APPROVED protein-coding ENSG00000185052 HGNC:10977 15352 609839 VALIDATED 1313056 SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012] 2 2 2 q24 166256502 166367904 - 172639915 172750816 - 171783405 171894306 - 1358576;1580863;6480464;7240710;8554872;8699517 15056512 10369257;10702666;10965105;11566871;12477932;14702039;15494407;16122696;16205742;16263864;16648338;17151801;17237342;17314511;17353931;17497669;17500595;17693006;17894412;18180767;18348195;18607376;18729074;18781797;18996845;19041431;19058789;19360665;19401682;19598235;19641205;19913066;20186120;20195357;20877624;21609426;21691713;21890473;21906983;22178446;22268729;22304920;22505724;22939629;23266187;23874603;24529757;24654937;25027693;9722566 8604 B4DGK6;F8W9J0;H0YFB2;O75746 ABBA01020729;AC068039;AJ496568;AK022828;AK054941;AK091071;AK294638;AMYH02005225;BC016932;CH471058;DN993435;KF456736;KF456741;NG_011781;NM_003705;NR_047549;XM_005246923;Y14494 AAH16932;AAY24134;ABM82466;ABW03408;BAG51120;BAG52276;BAG57817;CAA74834;CAD43090;EAX11196;EAX11197;NP_003696;O75746;XP_005246980 Hs.470608 1337028;1728747;1761205;2217986 D2S2381;G54269;SHGC-145217;SLC25A12_3281 AGC1 ARALAR;OTTHUMP00000165848;araceli hiperlarga;calcium binding mitochondrial carrier superfamily member Aralar1;calcium-binding mitochondrial carrier protein Aralar1;mitochondrial aspartate glutamate carrier 1;solute carrier family 25 (mitochondrial carrier, Aralar), member 12;solute carrier family 25 member 12 APPROVED protein-coding ENSG00000115840 HGNC:10982 04719 603667;612949 REVIEWED 1348384 SLC25A15P1 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 1 Y Y Y 9664597 9665516 - 28732792 28733711 - 26586645 26587564 - 100422624 ABBA01015480;AC019099;NG_024787 5116754 sY3165 SLC25A15P;SLC25A15PY1 APPROVED pseudo HGNC:18497 INFERRED 6480903 SLC25A15P2 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 2 13 13 19989408 19989572 + 19415268 19415432 + 100874522 ABBA01068555;AL356259;AMYH02027613;NG_032358 pseudo HGNC:39843 INFERRED 5130637 SLC25A15P3 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 3 13 13 13 6581271 6582193 + 25517713 25518635 + 24943575 24944497 + 100422635 ABBA01007897;AL354798;AMYH02027714;NG_024903 pseudo HGNC:39844 INFERRED 5130636 SLC25A15P4 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 4 21 21 10899078 10900002 + 10612455 10613379 - 100422636 ABBA01155612;AC244144;AF254982;NG_025052 pseudo HGNC:39845 INFERRED 5130635 SLC25A15P5 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 5 22 22 22 748733 749655 - 17126582 17127504 - 16645692 16646614 - 100422642 ABBA01001464;AMYH02037980;AP000365;NG_027407 pseudo HGNC:39846 INFERRED 1314247 SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 14 14 14 q32.12 72841198 73019912 + 92788925 92967825 + 92322581 92501481 + 6480464;7204698;8699517;8554872 17716241 12379639;12477932;14702039;15489334;17952075;18483556;19609347;19710684;20379614;20585627;21126331;21546767;23375655;23548203;24162737 123041 G3V505;H0YCX3;Q8NFF2 ABBA01030454;AF520704;AF520705;AF520706;AK096171;AK295059;AK295234;AL118559;AL834225;AMYH02029761;BC034805;BC037863;BC050357;BC069653;BX648995;CH471061;NG_023408;NM_153646;NM_153647;NM_153648;XM_005267341;XM_005267342 AAH69653;AAM76070;AAM76071;AAM76072;BAC04715;BAG58108;BAG58227;CAD38903;EAW81485;EAW81486;EAW81487;EAW81488;EAW81489;NP_705932;NP_705933;NP_705934;Q8NFF2;XP_005267398;XP_005267399 Hs.385530 1335644;1340777;1707912;1753457;1772737;1775995;1858285;2159858;2160065;5016781;5022651 D11S2921;D14S1016;D14S1050;FB12B12;G35718;G35860;SHGC-107410;SHGC-31732;SHGC-67307;SHGC-82207;STS-M79260 AI2A5;FLJ38852;NCKX4;SHEP6;SLC24A2 Na(+)/K(+)/Ca(2+)-exchange protein 4;OTTHUMP00000236276;OTTHUMP00000236277;OTTHUMP00000236278;OTTHUMP00000236279;sodium/potassium/calcium exchanger 4;solute carrier family 24 member 4 APPROVED protein-coding ENSG00000140090 HGNC:10978 15353 210750;609840;615887 REVIEWED 1322973 SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009] 13 13 13 q14 22420999 22444048 + 41363547 41386601 + 40789411 40812460 + 1599239;1599240;1580863;6480464;7240710;8554872;8699517 10369256;10805333 11355015;11552031;11668643;11814739;12477932;12807890;14759633;15489334;15498874;16256388;16376511;17825324;18978333;19242930;19322201;20574716;20877624;21139048;21890473;22262851;22292090;22465082;22649802;23266187;23266558;8889548 10166 F2Z354;Q5VZD9;Q9Y619 AA948095;ABBA01021288;AF112968;AF177333;AJ309943;AK296862;AK313602;AL161614;AL538057;AMYH02027907;AMYH02027908;BC002702;BI461478;BU726339;CH471075;DB505424;NG_012248;NM_014252 AAD45238;AAG17977;AAH02702;ABM83930;ABM87249;BAG36368;BAG59425;CAC83972;EAX08630;NP_055067;Q9Y619 Hs.646645 1672308;1798190;5015861;5015961;5022322;5022578;5037552;5109281;5117897;7185938 D10S16;D11S2560;D15S1477;D1S1423;D1S1425;D8S2279;GDB:631813;RH17529;SLC25A15_1851 D13S327;HHH;ORC1;ORNT1 OTTHUMP00000018304;OTTHUMP00000178580;mitochondrial ornithine transporter 1;ornithine transporter 1;solute carrier family 25 member 15 APPROVED protein-coding HGNC:10985 04838 238970;603861 REVIEWED 1322697 SLC25A16 solute carrier family 25 (mitochondrial carrier), member 16 This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008] 10 10 10 q21.3 63517479 63563049 - 70242090 70287280 - 68482333 68527523 - 1580863;6480464 11158296;12477932;1457817;14702039;16344560;16385451;20379614;20877624;23266187;24654937;2575220;8444471;8889548 8034 B4DPV4;P16260;V9GY06;V9GYA5;V9GYB8;V9GZ24 ABBA01019568;ABBA01019569;ABBA01019570;ABBA01019571;ABBA01019572;ABBA01019573;ABBA01019574;AK123772;AK290255;AK295287;AK298510;AL136233;AL713888;AMYH02023254;AMYH02023255;BC001407;BC030266;BE280946;BU618210;BU684567;CH471083;DA023888;M31659;NM_152707;XM_005270183;XM_006717987 AAA36329;AAH30266;ABM82636;ABM85813;BAF82944;BAG58271;BAG60716;EAW54298;NP_689920;P16260;XP_005270240;XP_006718050 Hs.180408 1855016;2181310 RH44947;RH66142 D10S105E;GDA;GDC;HGT.1;MGC39851;ML7;hML7 OTTHUMP00000019707;graves disease autoantigen;graves disease carrier protein;mitochondrial solute carrier protein homolog;solute carrier family 25 (mitochondrial carrier, Graves disease autoantigen), member 16;solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16;solute carrier family 25 member 16 APPROVED protein-coding HGNC:10986 00740 139080 REVIEWED 1350192 SLC25A18 solute carrier family 25 (glutamate carrier), member 18 ENCODES a protein that exhibits symporter activity (inferred); INVOLVED IN transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amiodarone; cyclosporin A 22 22 22 q11.2 1665610 1693397 + 18043030 18073651 + 17563483 17590881 + 1580863;6480464 11381032;11566871;11897791;12477932;14702039;15461802;15489334;20186120;20877624;21890473;22395867;23266187;25027693 83733 Q9H1K4 ABBA01001444;ABBA01001445;AC004019;AC007666;AJ428203;AK095706;AK308974;AK309110;AMYH02038003;AMYH02038004;AMYH02038005;AMYH02038006;AMYH02038007;AY008285;BC031644;CH471193;CR456578;NM_031481 AAG22855;AAH31644;ABM84586;ABM86585;CAD21008;CAG30464;CAK54610;CAK54909;EAW57760;EAW57761;NP_113669;Q9H1K4 Hs.282982 1672162;2140359;5020946;5022651;5024272;5037552;5109317 A004F12;D11S2921;D22S1005E;D22S586;D2S1254;D8S2279;L17971 GC-2;GC2 OTTHUMP00000196211;OTTHUMP00000196212;glutamate/H(+) symporter 2;mitochondrial glutamate carrier 2;solute carrier family 25 (mitochondrial carrier), member 18;solute carrier family 25 member 18 APPROVED protein-coding ENSG00000182902 HGNC:10988 15355 609303 PROVISIONAL 6480839 SLC25A1P2 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 2 7 7 7 q11.21 59669057 59671198 + 62857832 62859970 + 63397454 63399592 + 100133079 ABBA01018529;AC073188;NG_009439 pseudo HGNC:43847 INFERRED 1343771 SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 69861413 69877887 - 73269061 73285530 - 75272980 75289449 - 1624242;1580863;6480464;7240710;8554872;8699517 12185364 11226231;11474176;12477932;14702039;15489334;15539640;16303743;16344560;17035501;18280798;19798730;20301539;20877624;21139048;21890473;23266187;23642734;23872534;24816145;8125298;8889548 60386 J3KRY6;J3KS44;J3KSB1;J3KSI7;J3KTL0;J3QL84;J3QLV3;J3QS02;Q5JPC1;Q9HC21 AA743427;ABBA01028805;ABBA01028806;AC022211;AF182404;AJ251857;AJ301616;AK075239;AK097882;AK225881;AL833387;AMYH02033989;AMYH02033990;AY346372;BC001075;BC005120;BM455504;BU177306;BU607955;CH471099;CQ783884;DA605220;DB482052;NG_008274;NM_001126121;NM_001126122;NM_021734;XM_005257559;XM_005257560;XM_005257561;XM_005257562;XM_006722007 AAG16903;AAH01075;AAH05120;AAQ54327;ABM83686;ABM86983;BAC11492;BAG53545;CAC27560;CAC37793;CAF86907;CAI46136;EAW89267;EAW89268;EAW89269;NP_001119593;NP_001119594;NP_068380;Q9HC21;XP_005257616;XP_005257617;XP_005257618;XP_005257619;XP_006722070 Hs.514470 1739883;1758141;2132382;2217988 D17S1769;SHGC-147512;SHGC-64319;SLC25A19_1610 DNC;MCPHA;MUP1;THMD3;THMD4;TPC microcephaly, Amish;mitochondrial thiamine pyrophosphate carrier;mitochondrial uncoupling protein 1;solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 APPROVED protein-coding ENSG00000125454 HGNC:14409 08405 606521;607196;613710 REVIEWED 6480837 SLC25A1P1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 1 11 11 11 q14.2 82955061 82955974 + 85645780 85646693 + 85934667 85935850 + 100131457 ABBA01017331;AMYH02025222;AP000767;AP003128;NG_021826 1656539 SGC31622 pseudo HGNC:43845 INFERRED 6480838 SLC25A1P4 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 4 6 16 16 p11.2 66792860 66793394 + 34407928 34408462 + 35173557 35174091 + 100132355 ABBA01002118;AC023824;AMYH02031953;NG_022513 1688052 RH18236 pseudo HGNC:43848 INFERRED 6480834 SLC25A1P3 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 3 7 7 7 q11.21 57110307 57111453 + 63391465 63392611 + 63931087 63932233 + 9847074 644159 ABBA01027967;AC092634;AMYH02015847;NG_009405 pseudo HGNC:43846 INFERRED 6480833 SLC25A1P5 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 5 19 19 19 q11 24996602 24997383 - 28296335 28297116 - 27805427 27806208 - 642290 ABBA01039519;AC006504;AMYH02035858;NG_021745 1703248;1718917;1752015 RH123164;SGC32471;SHGC-105994 pseudo HGNC:43849 INFERRED 1347291 SLC25A2 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 Located between the protocadherin beta and gamma gene clusters on chromosome 5, this intronless gene encodes a protein that is highly similar to an ornithine transporter localized in the mitochondrial inner membrane. The encoded protein most likely plays a role in metabolism as a mitochondrial transport protein. [provided by RefSeq, Jul 2008] 5 5 5 q31 136759021 136760437 - 140682196 140683612 - 141302629 141304045 - 1580863;6480464 10380929;10716726;11004451;11230163;12477932;12807890;12948741;19240061;20877624;22262851;23251661;23266187 83884 Q9BXI2 ABBA01026417;AC005618;AC244130;AF332005;AF378119;AY208943;BC069458;BC100935;BC100936;BC100937;CH471062;NG_000012;NM_031947 AAH69458;AAI00936;AAI00937;AAI00938;AAK26320;AAM94902;AAO31753;EAW61967;NP_114153;Q9BXI2 Hs.97647 1682692;2107593;5492411 RH92610;SLC25A2__6844;UniSTS:480968 MGC119151;MGC119153;ORC2;ORNT2 OTTHUMP00000160004;mitochondrial ornithine transporter 2;ornithine transporter 2;solute carrier family 25 member 2 APPROVED protein-coding ENSG00000120329 HGNC:22921 12180 608157 REVIEWED 1347032 SLC25A20P1 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene 1 6 6 6 p12 53772292 53774024 + 52111169 52112902 + 52246371 52248104 + 789 ABBA01050558;AJ000401;AL034343;AMYH02013730;NG_001087;NG_031869 CACTP;SLC25A20P APPROVED pseudo HGNC:1422 INFERRED 1322988 SLC25A17 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 22 22 22 q13.2 24969310 25019057 - 41165636 41215403 - 40769630 40819399 - 1580863;6480464 10591208;10704444;11121399;11402059;12445829;12477932;14702039;14709540;15461802;15489334;16344560;16756494;19946888;21139048;21890473;21963094;22185573;22939629;23266187;24163370;8889548;9874197 10478 B0QYW5;B1AHN4;B4DP73;B4DU97;F2Z2I9;F8WA85;F8WBA4;F8WCH6;F8WCN9;F8WE74;F8WEC6;F8WF87;O43808 ABBA01055609;AK094062;AK292924;AK298215;AK300553;AL049764;AMYH02038418;AMYH02038419;AMYH02038420;AMYH02038421;AU123445;BC005957;BC012998;BC024741;BC039064;BQ440957;BU595416;BU686766;BX352732;BX647991;CH471095;CQ871242;CR456577;DC397321;KF457464;NM_001282726;NM_001282727;NM_006358;NR_104235;NR_104236;NR_104237;NR_104238;Y12860;Z98048 AAH05957;AAH12998;ABM84064;ABM87421;BAF85613;BAG60485;BAG62259;CAA73367;CAG30463;CAH56802;CAK54609;CAK54908;EAW60389;EAW60390;EAW60391;EAW60392;EAW60393;NP_001269655;NP_001269656;NP_006349;O43808 Hs.474938 1653112;1674832;1679607;1683555;1796812;1852564;1856655;2137875;2185724 A004I16;D22S1200;D22S588;RH46061;RH80474;SGC35084;SGC38343;SHGC-52894;SLC25A17_724 PMP34 34 kDa peroxisomal membrane protein;OTTHUMP00000199227;OTTHUMP00000199240;peroxisomal membrane protein (34kD);peroxisomal membrane protein PMP34;solute carrier family 25 member 17 APPROVED protein-coding ENSG00000100372 HGNC:10987 08425 606795 VALIDATED 732535 SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 48850594 48892435 - 48894356 48936426 - 48856923 48898993 - 1580863;2317584;6480464;7240710;8554872;8699517 19430727 10384384;10697964;11257506;11592821;12477932;12859414;15057979;15365988;15489334;15515015;1598097;16054041;16169070;17508264;18029348;18307102;19748481;20877624;21130740;21890473;22560224;23178685;23266187;23322164;24088670;9399886;9533014;9686371;9733094;9837782 788 B4DWZ5;C9JPE1;F8WEF6;O43772 ABBA01024626;ABBA01024627;ABBA01024628;ABBA01024629;AC134028;AK301744;AK312962;AMYH02006726;AMYH02006727;AMYH02006728;BC001689;BI913588;BQ018220;CH471055;DC360427;NG_008171;NM_000387;XM_006713327;Y10319;Y17775 AAH01689;ABM83525;ABM86754;BAG35801;BAG63207;CAA71367;CAB55356;EAW64929;NP_000378;O43772;XP_006713390 Hs.13845 1687171;1735174 D3S2821E;RH64842 CAC;CACT OTTHUMP00000164819;OTTHUMP00000210385;carnitine/acylcarnitine carrier protein;carnitine/acylcarnitine translocase;mitochondrial carnitine/acylcarnitine carrier protein;solute carrier family 25 member 20 APPROVED protein-coding ENSG00000178537 HGNC:1421 01953 212138;613698 REVIEWED 1350119 SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004] 14 14 14 q11.2 17010674 17505455 - 37147126 37641865 - 36677921 37172660 - 727306;1580863;6480464;8554872 11083877 12477932;15489334;19240061;19913121;20379614;20628086;20877624;22268729;23266187;23333304;23535729 89874 Q9BQT8 ABBA01061528;ABBA01061529;ABBA01061530;AJ278148;AK289575;AL079303;AL079304;AL121775;AL162464;AMYH02029027;AMYH02029028;AMYH02029029;AMYH02029030;AMYH02029031;BC101521;BC113365;CH471078;HB883165;HC940574;NM_001171170;NM_030631 AAI01522;AAI13366;ADR82918;BAF82264;CAC27562;CBF65810;CBU90681;EAW65851;NP_001164641;NP_085134;Q9BQT8 Hs.730857 1336043;1340987;1656172;1657066;1660730;1661938;1704086;1704682;1721817;1750689;1753481;1756273;1775983;1776225;1783114;1783116;1798192;2117098;2122788;2129928;2138793;2142795;2144583;2146338;2149232;2162283;2162995;2165290;2166221;2167418;2190349;5093524 A009Q12;AFM200zh4;AFM205XG5;CGR69;D14S75;D1S2669;G28439;G32768;G35715;G35886;G35933;G36153;G36231;G59933;RH44677;RH45291;RH45413;RH47829;RH68675;RH69748;RH70116;SHGC-107416;SHGC-112171;SHGC-143178;SHGC-156135;SHGC-156136;SHGC-52477;SHGC-56765;SHGC-78994;SHGC-83358;SLC25A22_1677;WI-16969 MGC126570;ODC;ODC1 OTTHUMP00000178876;OTTHUMP00000244282;mitochondrial 2-oxodicarboxylate carrier;oxodicarboxylate carrier;solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21;solute carrier family 25 member 21 APPROVED protein-coding HGNC:14411 12124 607571 VALIDATED 1317247 SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22 This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010] 11 11 11 p15.5 857022 864848 - 790475 798269 - 790475 798269 - 1580863;6480464;7240710;8554872;8699517 11566871;11897791;12477932;14598172;14702039;15489334;15592994;17353931;18029348;19167051;19780765;20562859;21139048;21145461;21890473;22268729;22939629;22990118;23266187;23464991;24457600;24596948 79751 E9PI74;E9PJH7;E9PJY0;E9PQ36;E9PS95;K4DIA2;K4DIA8;K4DIB0;K4DIB1;K4DIB2;K4DIB3;K4DIB4;K4DIB6;K4DIB8;Q9H936 AA723654;ABBA01015210;AJ428202;AK023106;AK290481;AK311038;AL832423;AMYH02024152;AP006621;BC019033;BC023545;BC024212;CH471158;NG_023407;NM_001191060;NM_001191061;NM_024698 AAH19033;AAH23545;AAH24212;ABM83846;ABM86865;BAB14407;BAF83170;CAD21007;EAX02385;EAX02386;EAX02387;EAX02388;EAX02389;NP_001177989;NP_001177990;NP_078974;Q9H936 Hs.99486 1673941;1697074 RH102018;SGC30389 EIEE3;FLJ13044;GC-1;GC1;NET44 OTTHUMP00000164433;OTTHUMP00000229783;OTTHUMP00000229784;OTTHUMP00000229958;glutamate/H(+) symporter 1;mitochondrial glutamate carrier 1;solute carrier family 25 member 22 APPROVED protein-coding ENSG00000177542 HGNC:19954 15356 609302;609304 REVIEWED 7247658 SLC25A24P1 SLC25A24 pseudogene 1 1 1 1 p13.3 107089305 107117240 - 108815761 108880475 + 108273139 108337853 + 20210993 727941 ABBA01068345;AL359258;KF455007;NG_027806 pseudo HGNC:48933 INFERRED 1343183 SLC25A23 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN adenine nucleotide transport (inferred); cellular response to calcium ion (inferred); regulation of cellular respiration (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); mitochondrion (inferred); INTERACTS WITH 5-fluorouracil; atrazine; cocaine 19 19 19 p13.3 6379913 6399607 - 6436092 6460232 - 6440064 6460221 - 1580863;6480464;8554872 12477932;14702039;15054102;15123600;15716113;15801905;17207965;19322201;20020773;20877624;21145461;21906983;23266187 79085 M0QZJ5;M0QZP9;M0QZT4;M0R1W8;M0R1X8;M0R2F3;M0R2I4;Q9BV35 ABBA01055956;ABBA01055957;ABBA01055958;AC010503;AJ512835;AJ619962;AJ619988;AJ879080;AJ879081;AJ879082;AJ879083;AK027562;AK054901;AK074579;AK294514;AK295484;AMYH02035353;AW379976;AY750170;BC001656;BG706035;CH471139;NM_024103;XM_006722884 AAH01656;AAU95077;ADQ32408;BAB70825;BAC11071;BAG57727;BAG58407;CAD55563;CAF04059;CAF04494;CAI51682;CAI51683;CAI51684;CAI51685;EAW69087;EAW69088;EAW69089;NP_077008;Q9BV35;XP_006722947 Hs.356231;Hs.732434 1682329 RH78554 APC2;MCSC2;MGC2615;SCaMC-3 calcium-binding mitochondrial carrier protein SCaMC-3;mitochondrial ATP-Mg/Pi carrier protein 2;mitochondrial Ca(2+)-dependent solute carrier protein 2;mitochondrial Ca2+-dependent solute carrier protein 2;short calcium-binding mitochondrial carrier 3;small calcium-binding mitochondrial carrier protein 3;solute carrier family 25 member 23 protein-coding ENSG00000125648 HGNC:19375 16381 608746 VALIDATED 7247675 SLC25A24P2 SLC25A24 pseudogene 2 1 1 108926311 108963861 - 108383689 108421239 - 100422608 AL390038;BX323851;BX649306;NG_026966 pseudo HGNC:48934 INFERRED 1351086 SLC25A25 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012] 9 9 9 q34.11 101482501 101523452 + 130830479 130871537 + 128068200 128109258 + 6480464;8554872 11572484;12107411;12477932;12645546;12975309;15054102;15123600;16344560;20583170;20877624;21906983;23266187;24816145;8889548 114789 F8WEY9;H7C4Z4;Q6KCM7 AB067483;ABBA01043864;ABBA01043865;ABBA01043866;ABBA01043867;AJ619963;AJ619989;AJ619990;AJ619991;AJ619992;AK290705;AK290991;AL360268;AL559911;AL590708;AMYH02021708;AY358515;BC005163;BC036889;BC044631;BC061925;BC089448;BC103930;BC103931;BC103932;BC103933;BM689843;BQ637100;BX642627;CH471090;DA219774;NG_032871;NM_001006641;NM_001006642;NM_001265614;NM_052901;NR_049766;XM_005251688;XM_005251689;XM_006716948;XM_006716949 AAH05163;AAH89448;AAI03931;AAI03932;AAI03933;AAI03934;AAQ88879;BAB67789;BAF83394;BAF83680;CAF04060;CAF04495;CAF04496;CAF04497;CAF04498;EAW87738;EAW87739;NP_001006642;NP_001006643;NP_001252543;NP_443133;Q6KCM7;XP_005251745;XP_005251746;XP_006717011;XP_006717012 Hs.5476;Hs.729700 1739927;2126486;2143893;2155921;2168672;2191295 D9S1755;MARC_17155-17156:1021053900:3;RH68473;RH68655;SHGC-31024;SHGC-34993 KIAA1896;MCSC;MGC105138;MGC119514;MGC119515;MGC119516;MGC119517;PCSCL;RP11-395P17.4;SCAMC-2 OTTHUMP00000022249;OTTHUMP00000022250;OTTHUMP00000022251;OTTHUMP00000022252;OTTHUMP00000215166;calcium-binding mitochondrial carrier protein SCaMC-2;mitochondrial ATP-Mg/Pi carrier protein 3;mitochondrial Ca(2+)-dependent solute carrier protein 3;mitochondrial Ca2+-dependent solute carrier;short calcium-binding mitochondrial carrier 2;small calcium-binding mitochondrial carrier 2;small calcium-binding mitochondrial carrier protein 2;solute carrier family 25 member 25;solute carrier family 25, member 25, isoform a APPROVED protein-coding ENSG00000148339 HGNC:20663 10573 608745 REVIEWED 7244904 SLC25A21-AS1 SLC25A21 antisense RNA 1 14 14 14 q13.3 17504821 17506589 + 37641231 37642999 + 37172026 37173794 + 12477932;14702039 100129794 ABBA01061530;AK057476;AL079304;AMYH02029031;BC012470;BC040167;BC053597;CH471078;LK938437;NR_033240 EAW65852 Hs.601579 2117098;2165290;5093524 A009Q12;G32768;RH45291 ncrna ENSG00000258708 HGNC:44298 VALIDATED 736693 SLC25A14 solute carrier family 25 (mitochondrial carrier, brain), member 14 Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013] X X X q24 129860544 129893817 + 129472689 129507335 + 130338715 130373361 + 1580863;6480464 10620491;10772343;10928996;11701769;12051969;12477932;12975309;15489334;15772651;16941493;17066476;18018477;19910678;22087257;22524567;22950050;23116158;23266187;23266757;9852133 9016 B4DJN2;B4DMK1;O95258;Q5JY88 ABBA01047920;ABBA01047921;ABBA01047922;ABBA01047923;ABBA01047924;AF078544;AF155809;AF155810;AF155811;AK296155;AK297499;AK304649;AK309433;AL035423;AL520510;AMYH02040481;AY358099;BC119666;BC119667;CH471107;DB485834;KF459409;NG_012850;NM_001282195;NM_001282196;NM_001282197;NM_001282198;NR_104107;XM_005262485;XM_005262488;XM_005262489;XM_006724786;XM_006724787;XM_006724788;XM_006724789;XR_244526;XR_430549;XR_430550 AAD04346;AAG29582;AAG29583;AAG29584;AAI19667;AAI19668;AAQ88466;BAG58894;BAG59913;BAH14232;EAX11801;EAX11802;EAX11803;EAX11804;NP_001269124;NP_001269125;NP_001269126;NP_001269127;O95258;XP_005262542;XP_005262545;XP_005262546;XP_006724849;XP_006724850;XP_006724851;XP_006724852 Hs.194686 1848544;1849593 DXS8293;WI-13677 BMCP-1;BMCP1;MGC149543;UCP 5;UCP5 OTTHUMP00000024012;OTTHUMP00000024013;OTTHUMP00000024014;brain mitochondrial carrier protein 1;mitochondrial uncoupling protein 5;solute carrier family 25 member 14 APPROVED protein-coding ENSG00000102078 HGNC:10984 02214 300242 REVIEWED 1344458 SLC25A27 solute carrier family 25, member 27 Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011] 6 6 6 p12.3 48173194 48198451 + 46620652 46645927 + 46652915 46678190 + 1580863;6480464;6482843;6482844 17066476;18534681 10025957;10620491;10772343;10928996;11994670;12477932;12975309;14702039;15342556;16344560;16378686;16775390;17035241;17601350;18755175;18976975;18977241;19150400;19536655;20385226;20545631;20877624;21332312;21621926;22427795;22524567;22580300;23266187;8889548 9481 B4DHR4;B4DZG4;O95847;Q5VTS8;S4R300;S4R3J2 ABBA01050615;AF110532;AK090871;AK291427;AK295233;AK302906;AK315940;AL591242;AMYH02013687;AY358711;BC033091;BP310559;CB243903;CH471081;DA144842;DC314392;DR002070;NM_001204051;NM_001204052;NM_004277;XM_005249483;XM_005249484;XM_005249485;XM_006715274;XR_427858 AAD16995;AAH33091;AAQ89951;BAF84116;BAG58226;BAG64076;BAH14311;EAX04298;EAX04299;NP_001190980;NP_001190981;NP_004268;O95847;XP_005249540;XP_005249541;XP_005249542;XP_006715337 Hs.40510 1669671;1682794;1686410;1700184;2106619;2174012;5113531 RH103707;RH46727;RH98533;RH98902;SGC31026;SLC25A27__5432;WI-18030 FLJ33552;RP11-446F17.2;UCP 4;UCP4 OTTHUMP00000016548;mitochondrial uncoupling protein 4;uncoupling protein 4 APPROVED protein-coding ENSG00000153291 HGNC:21065 15358 613725 REVIEWED 1607032 SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 1 1 1 p13.3 106852157 106917679 - 108677344 108742980 - 108134722 108200358 - 6480464 11230166;11827452;12477932;15054102;15123600;18029348;20379614;20877624;21139048;21890473;22015608;22268729;22797925;22939629;23266187;24244333;24332718;24583282;24816145 29957 H3BMI3;J3KN42;Q6NUK1 ABBA01028419;ABBA01028420;AF123303;AJ619961;AJ619987;AK292567;AK304165;AK316304;AK316506;AL050209;AL359258;AL390036;AMYH02001663;AMYH02001664;AW069035;BC014519;BC029377;BC029905;BC068010;BC068561;BE243559;BQ685792;CH471156;DC309482;DC340944;DC416591;NG_032752;NM_013386;NM_213651 AAF28888;AAH14519;AAH68561;ACE87008;ACE87696;BAF85256;BAG65052;BAH14675;BAH14877;CAF04058;CAF04493;EAW51254;EAW51255;NP_037518;NP_998816;Q6NUK1 Hs.656870 1652605;1654328;1675419;1695116;1699730;1772595;2109849 AL009685;D1S3169;G48197;RH103471;RH26333;SHGC-75246;SLC25A24_9617 APC1;DKFZp586G0123;SCAMC-1 OTTHUMP00000012674;OTTHUMP00000012675;calcium-binding mitochondrial carrier protein SCaMC-1;calcium-binding transporter;mitochondrial ATP-Mg/Pi carrier protein 1;mitochondrial ATP-Mg/Pi transporter;mitochondrial Ca(2+)-dependent solute carrier protein 1;short calcium-binding mitochondrial carrier 1;small calcium-binding mitochondrial carrier protein 1;solute carrier family 25 member 24 APPROVED protein-coding ENSG00000085491 HGNC:20662 12290 608744 REVIEWED 1312988 SLC25A28 solute carrier family 25 (mitochondrial iron transporter), member 28 INVOLVED IN ion transport (inferred); iron ion homeostasis (inferred); small molecule metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH afimoxifene; arsenous acid; benzo[a]pyrene 10 10 10 q24.2 95107676 95117622 - 101370275 101419039 - 99610518 99659286 - 1580863;6480464;8554872 11297739;12107412;12477932;14702039;15164054;15489334;16385451;16751776;20877624;22412388;23135267;23266187;23279374 81894 Q96A46;X6RFA8 ABBA01063245;AF267854;AF327402;AF327403;AJ303077;AJ303078;AK056782;AK094405;AL133353;AL353719;AL831943;AMYH02023640;BC015951;BC047312;BC058937;BC064541;BC076399;BC094821;CD672723;CH471066;NM_031212;XM_005270208;XM_005270209;XM_005270210;XM_005270211;XM_006718004;XM_006718005;XM_006718006 AAG44723;AAH47312;AAH58937;AAH76399;AAH94821;AAK49519;AAK49520;CAC27996;CAC27997;CAH10774;EAW49863;EAW49864;EAW49865;EAW49866;NP_112489;Q96A46;XP_005270265;XP_005270266;XP_005270267;XP_005270268;XP_006718067;XP_006718068;XP_006718069 Hs.403790;Hs.736801 2107589;2145938;2191645 D10S2168;MARC_3591-3592:966880954:1;SLC25A28__6845 DKFZp547C109;MFRN2;MRS3/4;MRS4L;NPD016 OTTHUMP00000020256;OTTHUMP00000020257;hMRS3/4;mitochondrial RNA splicing protein 3/4;mitochondrial RNA-splicing protein 3/4 homolog;mitochondrial iron transporter 2;mitoferrin 2;mitoferrin-2;putative mitochondrial solute carrier;solute carrier family 25, member 28 APPROVED protein-coding ENSG00000155287 HGNC:23472 609767 VALIDATED 1318797 SLC25A26 solute carrier family 25 (S-adenosylmethionine carrier), member 26 Mitochondrial carriers, including SLC25A26, are a family of transport proteins found mostly in the inner membranes of mitochondria. They shuttle metabolites and cofactors through the mitochondrial membrane (Agrimi et al., 2004 [PubMed 14674884]).[supplied by OMIM, Mar 2008] 3 3 3 p14.1 66136355 66375193 + 66119285 66119661 + 66133610 66378927 + 1580863;6480464;8554872 12477932;14674884;14702039;16344560;16641997;18029348;20877624;21076409;21906983;22623531;23266187 115286 F8WAB8;H0YCZ5;H0YF50;H7C430;Q5HCH6;Q70HW3 ABBA01024293;ABBA01024295;ABBA01030863;ABBA01030864;ABBA01030865;AC092034;AC145425;AC170165;AC170801;AC235952;AEKP01024816;AJ580932;AK092495;AK096876;AK291873;AMYH02006981;AMYH02006983;AX747571;BC003399;BC012852;BI822084;BX358127;CH471055;CR749718;DA420010;DA845619;NM_001164796;NM_173471;NR_028475;XM_006712956;XM_006712957;XM_006712958;XR_427246 AAH12852;ADZ15836;BAF84562;BAG52559;BAG53388;CAE45652;CAI46206;EAW65448;EAW65449;EAW65450;EAW65451;NP_001158268;NP_775742;Q70HW3;XP_006713019;XP_006713020;XP_006713021 Hs.379386 1340267;1647319;1649736;1661591;1689097;1699370;1857226;2158948;2184897;5022200;5037552 D3S2380;D3S3697;D8S2279;G30980;L18426;RH103272;RH80372;SHGC-77066;SHGC-77070;STS-H08059;WI-22136 DKFZp434E079;FLJ77340;SAMC OTTHUMP00000195109;OTTHUMP00000195110;S-adenosylmethionine carrier protein;S-adenosylmethionine mitochondrial carrier protein;mitochondrial S-adenosylmethionine transporter;solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26;solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26;solute carrier family 25, member 26 APPROVED protein-coding ENSG00000144741 HGNC:20661 15357 611037 VALIDATED 1606937 SLC25A30 solute carrier family 25, member 30 Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008] 13 13 13 q14.13 27022161 27047226 - 45960520 45992549 - 45393316 45418455 - 6480464 12477932;14702039;15809292;16344560;20877624;21906983;23266187 253512 B3KSR0;B3KTE8;D6RJI0;E5RIS9;E5RIW6;Q5SVS4 ABBA01021205;ABBA01021206;ABBA01021207;AK074457;AK094133;AK095465;AK302967;AL627107;AL832206;AMYH02027970;BC129808;BC132739;BC136760;BC144401;CH471075;DA184634;DC322809;NM_001010875;NM_001286806;NM_001286807;XM_005266321;XM_005266322;XM_005266327;XM_006719793;XM_006719794 AAI32740;AAI36761;ADR82925;BAG52822;BAG53060;BAG64115;EAX08739;NP_001010875;NP_001273735;NP_001273736;Q5SVS4;XP_005266378;XP_005266379;XP_005266384;XP_006719856;XP_006719857 Hs.591230 1653223;1769651;1788190;1849842;1849844;2107595;5015281;5022200;5022651;5037552 A005O48;D11S2921;D8S2279;G20387;G67440;G67447;L18426;RH79191;SLC25A30__6847;WI-16852 KMCP1 OTTHUMP00000018351;kidney mitochondrial carrier protein 1;kidney mitochondrial carrier protein-1 APPROVED protein-coding ENSG00000174032 HGNC:27371 18056 610793 VALIDATED 1606496 SLC25A31 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 Mitochondrial ADP/ATP carriers, such as SLC25A31, are nuclear-coded mitochondrial proteins that catalyze the exchange of ATP generated in mitochondria by ATP synthase (see MIM 108729) against ADP produced in cytosol by most energy-consuming reactions (Dolce et al., 2005 [PubMed 15670820]).[supplied by OMIM, Mar 2008] 4 4 4 q28.1 126030533 126074415 + 128651555 128695447 + 127730400 127774292 + 6480464;6907045;8554872 11076863;11230166;11256614;12477932;15489336;15670820;16381901;17137571;18029348;19156129;20060930;20877624;21139048;21532989;21827840;21890473;21906983;22178446;23266187 83447 Q9H0C2 ABBA01044794;AC093591;AJ863129;AL136857;AMYH02010069;AMYH02010070;AY550240;BC022032;BG773445;CH471056;NM_031291 AAH22032;AAT42263;AAY40974;CAB66791;CAI05952;CAL38140;EAX05199;EAX05200;NP_112581;Q9H0C2 Hs.149030 1720471;2142571 D4S1027;G59189 AAC4;ANT 4;ANT4;DKFZp434N1235;SFEC35kDa ADP,ATP carrier protein 4;ADP/ATP translocase 4;OTTHUMP00000164422;adenine nucleotide translocase 4;adenine nucleotide translocator 4;solute carrier family 25 member 31;sperm flagellar energy carrier protein APPROVED protein-coding ENSG00000151475 HGNC:25319 13160 610796 VALIDATED 8698677 SLC25A25-AS1 SLC25A25 antisense RNA 1 9 9 9 q34.11 101525374 101532937 - 130873450 130881013 - 128111171 128118734 - 100289019 ABBA01043867;AK124723;AL590708;AL833509;AMYH02021708;HG502449;NR_033374 BAG54079 Hs.693796 ncrna HGNC:27844 VALIDATED 732727 SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008] 12 12 12 q23 98652117 98660491 + 98987403 98995778 + 98593625 98602000 + 6480464;7240710;8554872;8699517 12477932;14702039;15324660;15489334;15984930;16196087;16303743;17273968;1777677;18029348;18729074;18781797;19056867;19156129;19167051;19287380;19405953;19946888;20186120;20848231;20877624;21081666;21113133;21139048;21145461;21252943;21319273;21565611;21890473;21906983;21907836;21963094;21987572;22178446;22268729;22797925;22810585;22939629;23000965;23184937;23246001;23266187;23402259;23438482;23455922;23464991;23798571;24244333;24250222;24337577;24457600;24639526;24657165;24816145;25027693;8125298;8144629;8168843;8575787;9733094 5250 F8VVM2;F8VWQ0;F8VWR4;F8VY00;F8VYH5;F8VZL5;Q00325;Q6MZF9 AB064666;ABBA01053283;AC013283;AK057575;AK074759;AK092689;AK222658;AK316598;AMYH02027038;BC000998;BC001328;BC003504;BC004345;BC006455;BC011574;BC011641;BC014019;BC015379;BC051367;BC068067;BI458030;BX647062;CH471054;CS185525;NG_011702;NM_002635;NM_005888;NM_213611;X60036;X77337 AAH00998;AAH01328;AAH03504;AAH04345;AAH06455;AAH11574;AAH11641;AAH14019;AAH15379;AAH51367;ABM81884;ABW03346;BAB93517;BAC11187;BAD96378;BAG38185;BAG52596;CAA42641;CAB56611;CAB56612;CAE46080;CAJ42706;EAW97595;EAW97596;EAW97597;EAW97598;EAW97599;EAW97600;NP_002626;NP_005879;NP_998776;Q00325 Hs.290404 2132936;2173511 G28613;RK1219_1220 OK/SW-cl.48;PHC;PTP OTTHUMP00000243241;OTTHUMP00000243242;OTTHUMP00000243243;OTTHUMP00000243245;OTTHUMP00000243249;OTTHUMP00000243251;mitochondrial phosphate carrier protein;phosphate carrier protein, mitochondrial;phosphate transport protein;solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 3;solute carrier family 25 member 3 APPROVED protein-coding ENSG00000075415 HGNC:10989 02654 600370;610773 REVIEWED 1604265 SLC25A33 solute carrier family 25 (pyrimidine nucleotide carrier), member 33 SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 1 1 1 p36.22 8705513 8748776 + 9599528 9642831 + 9539469 9582773 + 6480464 12477932;12887330;14715278;16949250;20453889;20877624;21900206;23266187 84275 Q9BSK2 ABBA01035555;ABBA01035556;ABBA01035557;ABBA01035558;AF495714;AJ880283;AL928921;AL954705;AMYH02000247;AMYH02000248;AMYH02000249;BC004991;BC073135;CH471130;KF510740;NM_032315;XM_005263503 AAH04991;AAH73135;AAM18051;CAI54244;EAW71620;NP_115691;Q9BSK2;XP_005263560 Hs.568613 1659443;2173656 SGC32104;SHGC-74187 BMSC-MCP;MGC4399;PNC1;huBMSC-MCP OTTHUMP00000001435;bone marrow stromal cell mitochondrial carrier protein;mitochondrial carrier protein;novel mitochondrial carrier protein;solute carrier family 25 member 33;solute carrier family 25, member 33 APPROVED protein-coding HGNC:29681 14631 610816 VALIDATED 1317684 SLC25A29 solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29 This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014] 14 14 14 q32.2 80812080 80827487 - 100745514 100772884 - 100279177 100306547 - 1580863;6480464 12477932;12882971;14702039;19287344;20877624;23266187;24652292 123096 G3V441;G3V477;G3V4H8;G3V5F4;Q8N8R3 ABBA01048531;AK095532;AK096294;AK123821;AK172788;AK289627;AK310069;AL157871;AL832299;AMYH02029854;BC132964;BC132966;BI828620;BX247983;CF529947;CH471061;DA201175;HG506566;NM_001039355;NM_001291813;NM_001291814;NM_152333;XM_005267343;XM_005267344;XM_005267345;XM_006720038;XM_006720039;XM_006720040;XM_006720041;XM_006720042;XR_429289;XR_429290 AAI32965;AAI32967;BAC04751;BAD18767;BAF82316;BAG53079;BAG53964;CAD62317;EAW81692;EAW81693;EAW81694;EAW81695;NP_001034444;NP_001278742;NP_001278743;NP_689546;Q8N8R3;XP_005267400;XP_005267401;XP_005267402;XP_006720101;XP_006720102;XP_006720103;XP_006720104;XP_006720105 Hs.578109 2107591;2130490;2138618 RH15727;RH78286;SLC25A29__6846 AL157871.2;C14orf69;CACL;FLJ38975;ORNT3 CACT-like;OTTHUMP00000028080;OTTHUMP00000197038;OTTHUMP00000246489;carnitine-acylcarnitine translocase like;carnitine/acylcarnitine translocase-like;mitochondrial basic amino acids transporter;mitochondrial carnitine/acylcarnitine carrier protein CACL;mitochondrial ornithine transporter 3;solute carrier family 25, member 29 APPROVED protein-coding ENSG00000197119 HGNC:20116 15360 615064 REVIEWED 1605933 SLC25A32 solute carrier family 25 (mitochondrial folate carrier), member 32 This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013] 8 8 8 q22.3 100597407 100614007 - 104410866 104427563 - 103398638 103415335 - 6480464;7242561;8554872 22332074 10978331;12477932;14702039;15342556;15489334;16344560;19322201;19362304;20877624;21768094;21906983;22939629;23266187 81034 B4DUQ5;E5RFL3;E5RGK5;E5RGT9;Q9H2D1 ABBA01037636;AC012213;AF283645;AK027531;AK027787;AK074452;AK125492;AK300748;AL046268;AMYH02018543;BC021893;BP274577;CH471060;DB087013;DC331449;NM_030780;NR_102337;NR_102338 AAG37834;AAH21893;BAB55180;BAB55368;BAG54205;BAG62417;EAW91877;EAW91878;NP_110407;Q9H2D1 Hs.532265;Hs.607819 1774599;5022639;5022651 D11S2808;D11S2921;STS-F13653 FLJ23872;MFT;MFTC OTTHUMP00000227518;mitochondrial folate transporter/carrier;solute carrier family 25 (mitochondrial folate carrier) , member 32;solute carrier family 25, member 32 APPROVED protein-coding ENSG00000164933 HGNC:29683 11301 610815 REVIEWED 1606920 SLC25A34 solute carrier family 25, member 34 SLC25A34 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 1 1 1 p36.21 14545826 14550901 + 16062721 16067884 + 15736226 15741389 + 6480464 12477932;14702039;16949250;20877624;23266187 284723 Q6PIV7 ABBA01004700;AK024244;AL450998;AL832282;AMYH02000367;BC027998;CH471167;CR749264;NM_207348;XM_005245856 AAH27998;CAH18120;EAW51747;NP_997231;Q6PIV7;XP_005245913 Hs.631867 1670072;1775170;5015861;5016478;5024756;5024761;5037552;5118877;7185938 D10S16;D11S3745;D8S2279;GDB:434012;RH36905;RH80030;SHGC-74256;SHGC-74261 DKFZp781A10161;RP11-169K16.2 OTTHUMP00000003096;solute carrier family 25 member 34 APPROVED protein-coding ENSG00000162461 HGNC:27653 17340 610817 PROVISIONAL 1605787 SLC25A35 solute carrier family 25, member 35 SLC25A35 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 17 17 17 p13.1 8219936 8227022 - 8191082 8198709 - 8287764 8295391 - 6480464 12477932;14702039;16949250;20877624;23266187 399512 Q3KQZ1 ABBA01054908;AC135178;AK097536;AMYH02032923;AY498866;BC041597;BC052233;BC101329;BC101330;BC105995;CH471108;NM_201520;XM_005256637;XM_005256641;XM_005256642 AAI01330;AAI01331;AAI05996;AAR92153;BAC05091;EAW90062;EAW90063;NP_958928;Q3KQZ1;XP_005256694;XP_005256698;XP_005256699 Hs.118918 1652138;1652140;1771304;1855233;5022425 A006E21;D22S296;G20744;RH46164;RH69850 FLJ40217;MGC120446;MGC120448 solute carrier family 25 member 35 APPROVED protein-coding ENSG00000125434 HGNC:31921 13444 610818 PROVISIONAL 6481091 SLC25A30-AS1 SLC25A30 antisense RNA 1 13 q14.13 45991959 45994506 + 8889548 100874259 AL627107;CA311633;NR_047031;XR_159009;XR_172004 Hs.658038 APPROVED ncrna HGNC:42795 VALIDATED 1605658 SLC25A36 solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 INVOLVED IN response to estradiol; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 3-isobutyl-1-methyl-7H-xanthine 3 3 3 q23 139084063 139122168 + 140660662 140698785 + 140941820 140979943 + 6480464;8554872 12477932;12887330;14702039;15831516;16169070;16344560;19010793;20877624;20944657;21906983;22704111;23266187;24322204 55186 D6R8Y3;D6RB26;D6RCF5;F6SDC8;J3KQA4;Q96CQ1 ABBA01059053;ABBA01059054;AC108727;AC132032;AK001480;AK296785;AL049246;AL136803;AMYH02007799;AMYH02007800;AMYH02007801;BC014064;BC019859;BC036272;BM552452;BQ718950;BQ771812;CH471052;DA593079;NM_001104647;NM_018155;XM_005247575;XM_006713685 AAH14064;ACE86423;ACE87098;BAA91715;BAG59363;CAB66737;EAW79011;EAW79012;EAW79013;NP_001098117;NP_060625;Q96CQ1;XP_005247632;XP_006713748 Hs.144130 1646389;1653450;1664507;1689981;1695322;2136666 D3S2376;RH67882;RH92630;SHGC-64739;STS-H98013;WI-22240 DKFZp564C053;FLJ10618;PNC2 OTTHUMP00000217882;OTTHUMP00000217884;OTTHUMP00000217886;solute carrier family 25 member 36;solute carrier family 25, member 36 APPROVED protein-coding ENSG00000114120 HGNC:25554 07688 VALIDATED 6480832 SLC25A38P1 solute carrier family 25, member 38 pseudogene 1 1 1 1 q24.3 145826866 145828785 + 172717392 172719311 + 172748252 172750171 + 20190752 441915 ABBA01027917;AMYH02002149;NG_006910;Z98043 1690514;1735228;2186001 A002A40;D3S2894E;RH16141 pseudo HGNC:43858 INFERRED 6480847 SLC25A39P1 solute carrier family 25, member 39 pseudogene 1 1 1 1 175893801 175894857 + 202765166 202766222 + 202796038 202797094 + 100420877 ABBA01027495;AC098934;AMYH02002504;NG_027188 pseudo HGNC:43859 INFERRED 1605395 SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011] 8 8 8 p21.2 22349849 22393485 + 23386363 23432976 + 23528850 23575463 + 6480464 10931946;11845285;12477932;1372133;14702039;15489334;16303743;16511496;16949250;19187226;19322201;19805291;20877624;21627978;23266187;8125298 51312 F8W9Q7;H0YAT5;Q9NYZ2 ABBA01005544;ABBA01005545;AC051642;AF113696;AF116630;AF116640;AF155660;AF223466;AF495725;AK074708;AK075313;AK093931;AK127666;AK223194;AL833186;AMYH02017615;AY032628;BC015013;BC033834;BC042973;BC062364;BC132799;BC132801;BI460337;BM926580;BX647289;CH471080;CQ783918;NM_016612;S94541;XM_005273526;XM_006716352 AAD14436;AAF64141;AAF67479;AAF71053;AAF71063;AAH15013;AAI32800;AAI32802;AAK38154;AAQ06679;ADR83141;BAD96914;CAF86924;CAH10415;EAW63614;EAW63615;EAW63617;NP_057696;Q9NYZ2;XP_005273583;XP_006716415 Hs.596025;Hs.658208;Hs.726050 1646059;1670668;1677820;1686196;1701218;1733990;1768430;1768432;1775282;2125635;2134784;2135604;2142914;2146144;2171978;2176280;2180357;2180385;2181350;5014019;5015961;5024761;5037552 A003P18;A006H19;D15S1477;D5S2354;D8S1181;D8S1939;D8S2028;D8S2279;G20807;RH104237;RH12880;RH16282;RH16405;RH16493;RH16505;RH36905;RH80368;RH80596;SHGC-33931;SHGC-34133;STS-H40450;STS-R98014;WI-14743 HT015;MFRN;MFRN1;MSC;MSCP;PRO1278;PRO1584;PRO2217 OTTHUMP00000225191;OTTHUMP00000225195;mitochondrial iron transporter 1;mitochondrial solute carrier protein;mitoferrin;mitoferrin-1;predicted protein of HQ2217;solute carrier family 25, member 37 APPROVED protein-coding HGNC:29786 17605 610387 PROVISIONAL 1606272 SLC25A38 solute carrier family 25, member 38 This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia.[provided by RefSeq, Mar 2010] 3 3 3 p22.1 39366402 39380406 + 39424815 39438819 + 39383324 39397328 + 6480464;7240710;8554872;8699517 12477932;16169070;16344560;16949250;17207965;19412178;19731322;21393332;23115192;23266187;24323989;8125298 54977 C9JT44;Q96DW6 ABBA01024804;AC099332;AC104850;AK000558;AK026356;AK225388;AMYH02006588;BC013194;BQ574159;CH471055;CR457242;DB113609;NG_016931;NM_017875;XM_006713214 AAH13194;ADQ31832;BAA91253;CAG33523;EAW64579;EAW64580;EAW64581;NP_060345;Q96DW6;XP_006713277 Hs.369615 1650234;1690514;1735228;2186001 A002A40;D3S2894E;RH16141;RH41949 FLJ20551;FLJ22703 OTTHUMP00000161963;appoptosin;solute carrier family 25 member 38 APPROVED protein-coding ENSG00000144659 HGNC:26054 07925 205950;610819 REVIEWED 1604622 SLC25A39 solute carrier family 25, member 39 SLC25A39 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 17 17 17 q12 39105698 39110922 - 42396993 42402217 - 44319625 44324849 - 6480464 10810093;11139402;11230166;11256614;12477932;14702039;15489334;16949250;19656490;20877624;21906983;23266187;8889548 51629 B4DFG5;K7EJI2;K7EKC2;K7EKF4;K7ELM7;K7EMR4;K7EMW3;K7EQS4;K7EQS8;Q9BZJ4 AB209576;ABBA01028378;AC003043;AF119864;AF151827;AF317711;AK026060;AK289357;AK294085;AK295478;AK301139;AL133584;AMYH02033476;AMYH02033477;BC001398;BC009330;BC011178;BC096819;BU678976;CH471178;CV573041;NM_001143780;NM_016016;XM_005257443;XM_005257445 AAD34064;AAF69618;AAG60687;AAH01398;AAH09330;AAH96819;BAB15341;BAD92813;BAF82046;BAG57426;BAG58405;BAG62731;CAB63728;EAW51602;EAW51603;EAW51604;EAW51605;EAW51606;EAW51607;NP_001137252;NP_057100;Q9BZJ4;XP_005257500;XP_005257502 Hs.744880 2152816;2161721;5021872 RH12048;RH70380;sY3084 CGI-69;CGI69;FLJ22407 OTTHUMP00000163468;solute carrier family 25 member 39 APPROVED protein-coding ENSG00000013306 HGNC:24279 13040 610820 VALIDATED 5688823 SLC25A3P1 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1 1 1 1 p32.3 52191378 52193028 - 53904043 53905693 - 53438370 53440020 - 12477932;14702039 163742 Q8N7R6 ABBA01074740;AK097753;AL365445;AMYH02001037;BC128116;BC128117;NR_002314 BAC05161 Hs.99394 FLJ40434;MGC149198;MGC149199 APPROVED pseudo ENSG00000236253 HGNC:26869 PROVISIONAL 6480418 SLC25A3P2 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 2 12 12 12 q24.13 112056268 112057332 + 112430798 112431862 + 111992994 111994058 + 100128618 ABBA01019917;AC004024;AMYH02027214;NG_021734 pseudo HGNC:43784 INFERRED 6480402 SLC25A3P3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 18 18 18 1033809 1034392 - 1159190 1159773 - 1159189 1159772 - 100422606 ABBA01049825;AMYH02034200;AP005265;NG_026266 pseudo HGNC:43785 INFERRED 1604178 SLC25A42 solute carrier family 25, member 42 This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012] 19 19 19 p13.11 19079646 19128541 + 19174776 19223839 + 19063994 19113030 + 6480464 12477932;16949250;19429682;20379614;20877624;23266187;23752268 284439 Q86VD7;Q8NHH2 ABBA01051308;AC002126;AC003038;AC004143;AF521885;AI057363;AK303785;AMYH02035750;BC041973;BC045598;CH471106;FN356975;NM_178526;XM_005259861;XM_005259862 AAB86983;AAC02758;AAH45598;AAM81327;BAH14051;CAX94853;EAW84777;EAW84778;EAW84779;NP_848621;Q86VD7;XP_005259918;XP_005259919 Hs.303669 1646655;2182872 SHGC-36640;STS-AA005350 FLJ54826;MGC26694 mitochondrial coenzyme A transporter SLC25A42;solute carrier family 25 member 42 APPROVED protein-coding ENSG00000181035 HGNC:28380 17523 610823 REVIEWED 1604180 SLC25A41 solute carrier family 25, member 41 SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 19 19 19 p13.3 6364835 6373632 - 6426048 6433790 - 6426037 6433805 - 6480464 12477932;14702039;16949250;23266187 284427 Q8N5S1 ABBA01055958;AC011539;AK097761;AMYH02035351;AMYH02035352;AMYH02035353;BC031671;CH471139;NM_173637;XR_430136 AAH31671;BAC05163;EAW69092;EAW69093;EAW69094;NP_775908;Q8N5S1 Hs.375135 APC4;FLJ40442;MGC34725 solute carrier family 25 member 41 APPROVED protein-coding ENSG00000181240 HGNC:28533 14584 610822 VALIDATED 1605709 SLC25A44 solute carrier family 25, member 44 SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 1 1 1 q22 129236709 129255567 + 156163728 156182587 + 156193932 156212796 + 6480464 12477932;15489334;16303743;16710414;16949250;19322201;20877624;22939629;23266187;23666240;9455484 9673 E9PGQ0;Q96H78 AB007915;ABBA01016669;AK074912;AK075002;AK294524;AK299747;AK307968;AK309678;AK309690;AL135927;AMYH02001967;BC008843;BC039854;BC062796;CH471121;CQ782989;CQ783742;DC370927;HY053859;NM_001286184;NM_014655;NR_104408;NR_104411;NR_104412;XM_006711657;XM_006711658 AAH08843;AAH39854;BAA32291;BAC11287;BAC11347;BAG57735;BAG61638;CAF86209;CAF86839;EAW52991;NP_001273113;NP_055470;Q96H78;XP_006711720;XP_006711721 Hs.532375 1680962;1707492;2127961;2137417;2185985;5015961 A002Y27;D15S1477;RH45544;RH79563;SHGC-64332;SHGC-84544 FLJ90431;KIAA0446;RP11-54H19.3 OTTHUMP00000016580;solute carrier family 25 member 44 APPROVED protein-coding ENSG00000160785 HGNC:29036 17190 610824 VALIDATED 1604185 SLC25A45 solute carrier family 25, member 45 SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 11 11 11 q13.1 62469015 62476495 - 65142663 65151172 - 65375192 65383701 - 6480464 12477932;14702039;16344560;16949250;17207965;23266187;24159190;8889548 283130 B3KR90;E9PJ15;E9PJQ3;E9PJW2;E9PK53;E9PMF0;Q8N413 ABBA01024126;AK090434;AK091190;AK124022;AMYH02024956;AMYH02024957;AP000944;AY597807;BC036869;BC041100;BM695511;BU728924;BX648573;CH471076;DA453096;DA872876;DB049668;NM_001077241;NM_001278250;NM_001278251;NM_001300820;NM_182556;XM_006718507;XM_006718508;XM_006718509;XM_006718510;XM_006718511;XM_006718512;XM_006718513;XM_006718514;XM_006718515 AAH36869;AAT09000;ADQ33016;BAC03415;BAG52302;EAW74380;EAW74381;EAW74382;EAW74383;NP_001070709;NP_001265179;NP_001265180;NP_001287749;NP_872362;Q8N413;XP_006718570;XP_006718571;XP_006718572;XP_006718573;XP_006718574;XP_006718575;XP_006718576;XP_006718577;XP_006718578 Hs.661604 5015881;5015961;5020740;5022651;5037552;5108775 D11S2921;D15S1477;D3S1674;D8S2279;GDB:335751;L17809 OTTHUMP00000232356;OTTHUMP00000232357;OTTHUMP00000232359;OTTHUMP00000232377;OTTHUMP00000232380;solute carrier family 25 member 45 APPROVED protein-coding ENSG00000162241 HGNC:27442 14142 610825 VALIDATED 732748 SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013] 4 4 4 q35 183391334 183398454 + 186064417 186071538 + 185143263 185150384 + 1581261;1580618;1580619;1580620;1580621;1580622;1580863;6480464;6907045;7240710;8554872;8699517 10220377;12565915;15551024;15792871;16155110;16501242 10364542;10620603;10926541;11175251;11181702;11193032;11287411;11756592;11756613;11809823;12039962;12112115;12140186;12149099;12450408;12477932;12663490;12707443;12750393;12750404;14729611;15033717;15142377;15231833;15489334;15638722;15725353;15817944;1582253;15832179;16020522;16107323;16120388;16226712;16236267;16354571;16429131;16492162;16507998;16511342;16556444;16887100;17203973;17328670;17331040;17420318;17586316;17586317;18094160;18504126;18575922;18781797;18852887;19149577;19232058;19275580;19275583;19275588;19425506;19840444;19965780;20007455;20012529;20160640;20181062;20186120;20504995;20528917;20698827;20843780;20877624;20972266;21139048;21145461;21196320;21318276;21319273;21586654;21890473;21906983;21918813;21963094;22178446;22187496;22350218;22354994;22797925;22939629;23000965;23246001;23266187;23401503;23464991;24244333;24583282;24816145;24884163;2541251;2547778;2823266;2829183;8103757;8479824;8619474;8644740;9110174;9748162;9874241 291 P12235;Q59EP7;V9GYG0 AB209764;ABBA01070527;ABBA01070528;AC093592;AC093824;AC112237;AF052119;AK291902;AMYH02010659;BC008664;BC061589;BC063643;BG707401;BI544547;CH471056;HQ206346;HQ206347;HQ206348;HQ206349;HQ206350;HQ206351;HQ206352;HQ206353;HQ206354;HQ206355;HQ206356;HQ206357;HQ206358;HQ206359;HQ206360;HQ206361;HQ206362;HQ206363;HQ206364;HQ206365;HQ206366;HQ206367;HQ206368;HQ206369;HQ206370;HQ206371;HQ206372;HQ206373;HQ206374;HQ206375;HQ206376;HQ206377;HQ206378;HQ206379;HQ206380;HQ206381;HQ206382;HQ206383;HQ206384;HQ206385;J02966;J03593;J04982;NG_013001;NM_001151 AAA36751;AAA51736;AAA61223;AAH08664;AAH61589;AAH63643;ABM82473;ABM85661;ADP92294;ADP92295;ADP92296;ADP92297;ADP92298;ADP92299;ADP92300;ADP92301;ADP92302;ADP92303;ADP92304;ADP92305;ADP92306;ADP92307;ADP92308;ADP92309;ADP92310;ADP92311;ADP92312;ADP92313;ADP92314;ADP92315;ADP92316;ADP92317;ADP92318;ADP92319;ADP92320;ADP92321;ADP92322;ADP92323;ADP92324;ADP92325;ADP92326;ADP92327;ADP92328;ADP92329;ADP92330;ADP92331;ADP92332;ADP92333;BAD93001;BAF84591;EAX04655;EAX04656;NP_001142;P12235 Hs.246506 1735374;1742687;1848249;1854504;2132075;2152255;2167014;2176423;2177369;5017859;5120181;5491651 A006N06;D4S2504E;D4S3175;G33947;GDB:201790;GDB:201792;MARC_5085-5086:996690129:1;SHGC-59516;SHGC-59518;SHGC-59680;SLC25A4;STS-F10917 1;AAC1;ANT;ANT 1;ANT1;MTDPS12;PEO2;PEO3;T1 ADP,ATP carrier protein 1;ADP,ATP carrier protein, heart/skeletal muscle;ADP/ATP translocase 1;OTTHUMP00000165924;adenine nucleotide translocator 1 (skeletal muscle);heart/skeletal muscle ATP/ADP translocator;solute carrier family 25 (mitochondrial adenine nucleotide translocator) member 4;solute carrier family 25 member 4 APPROVED protein-coding ENSG00000151729 HGNC:10990 00058 103220;192600;609283;615418 REVIEWED 1345966 SLC25A47 solute carrier family 25, member 47 INVOLVED IN transmembrane transport (inferred); transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); mitochondrion (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 14 14 14 q32.2 80844304 80851341 + 100789679 100796715 + 100323342 100330378 + 6480464;8554872 12477932;14702039;15221005;15322095;19303656;20877624;21988832;23266187 283600 G3V374;Q6Q0C1 AB073385;ABBA01048531;AK092001;AL157871;AMYH02029854;AY569438;AY570298;BC137253;BC137254;BC144549;BX248260;CH471061;NM_207117 AAI37254;AAI37255;AAS77211;AAS80155;BAD38636;BAG52460;CAD62588;EAW81696;EAW81697;EAW81698;EAW81699;NP_997000;Q6Q0C1 Hs.108268 C14orf68;HDMCP;HMFN1655 HCC-down-regulated mitochondrial carrier protein;OTTHUMP00000246491;hepatocellular carcinoma down-regulated mitochondrial carrier protein;hepatocellular carcinoma-downregulated mitochondrial carrier protein;solute carrier family 25 member 47 APPROVED protein-coding ENSG00000140107 HGNC:20115 16620 609911 VALIDATED 1606754 SLC25A46 solute carrier family 25, member 46 SLC25A46 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 5 5 5 q22.1 106020634 106044366 + 110073837 110100857 + 110738136 110765157 + 6480464 12477932;14702039;1651562;1651563;16949250;17207965;19584346;20877624;21890473;21906983;21963094;22939629;23266187;23817571;23879873;24388013 91137 B4DY98;B7Z6C8;E7EVY2;Q96AG3 ABBA01069075;AC008650;AK091427;AK290217;AK300116;AK300123;AK302326;AMYH02011962;BC017169;CH471086;CQ834278;KF510875;M74089;NM_138773;XM_005272127 AAA03587;AAH17169;ADQ32748;BAF82906;BAG52358;BAG61915;BAG63660;BAH13214;CAH05354;EAW49040;EAW49041;NP_620128;Q96AG3;XP_005272184 Hs.75639 1659110;1669567;2130991;5094959 D5S2477;D5S2563;RH17735;SLC25A46 OTTHUMP00000159002;OTTHUMP00000223494;solute carrier family 25 member 46 APPROVED protein-coding ENSG00000164209 HGNC:25198 14283 610826 PROVISIONAL 1601716 SLC25A48 solute carrier family 25, member 48 INVOLVED IN transmembrane transport (inferred); transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH (S)-nicotine; 17beta-estradiol (ortholog); benzo[a]pyrene (ortholog) 5 5 5 q31.1 131295101 131349055 + 135170365 135224326 + 135834676 135888637 + 6480464;8554872 12477932;16344560;19773279;20877624;23251661;23266187 153328 C9JM56;D6RFW8;J3KQI1;Q6ZT89 ABBA01068720;ABBA01068721;ABBA01068722;AC011427;AI733049;AK126812;AMYH02012259;AMYH02012260;AMYH02012261;BC025747;BG700532;CH471062;DA137264;KF458007;NM_145282;XM_005271902;XM_005271903;XM_006714543;XM_006714544;XM_006714545;XM_006714546;XM_006714547;XM_006714548;XM_006714549;XM_006714550;XM_006714551;XM_006714552 AAH25747;BAC86705;EAW62205;EAW62206;EAW62207;NP_660325;Q6ZT89;XP_005271959;XP_005271960;XP_006714606;XP_006714607;XP_006714608;XP_006714609;XP_006714610;XP_006714611;XP_006714612;XP_006714613;XP_006714614;XP_006714615 Hs.412418;Hs.720329 1645549 WI-13437 HDMCP HCC-down-regulated mitochondrial carrier protein;OTTHUMP00000211282;OTTHUMP00000211284;mitochondrial carrier protein-like;solute carrier family 25 member 48 APPROVED protein-coding ENSG00000145832 HGNC:30451 14098 VALIDATED 5552935 SLC25A5-AS1 SLC25A5 antisense RNA 1 X X X 119054703 119057790 - 118599996 118603083 - 119466033 119469120 - 12477932;14702039;8889548 100303728 Q8NAU4 ABBA01036674;AC004000;AI380428;AI471629;AK092094;AK094280;AMYH02040332;BC028211;BC050320;BM715000;NR_028443 BAC03803 Hs.714405;Hs.742239 1682129;1794164 PMC310799P1;RH44917 FLJ34775;FLJ36961 APPROVED ncrna ENSG00000224281 HGNC:43438 VALIDATED 1352634 SLC25A51P1 solute carrier family 25, member 51 pseudogene 1 6 6 6 q12 64662826 64664430 + 66497772 66499376 + 65787879 65789483 + 6480464 12477932 442229 ABBA01023930;AL391500;AMYH02013833;AW665607;BC024198;NR_026540 Hs.390414 MCART3P;bA707M13.1 APPROVED pseudo HGNC:23325 VALIDATED 1343151 SLC25A51P2 solute carrier family 25, member 51 pseudogene 2 18 18 18 p11.23 7019350 7021110 + 7134119 7135880 + 7134120 7135881 + 645423 ABBA01049906;AMYH02034262;AP005062;NG_009212 MCART4P APPROVED pseudo HGNC:23327 INFERRED 1313070 SLC25A51 solute carrier family 25, member 51 INVOLVED IN transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH aflatoxin B1; atrazine; copper(2+) sulfate 9 9 9 p13.3-p12 37810747 37837522 - 37877572 37904350 - 37877575 37904353 - 737633;1580863;6480464;8554872 12477932 10737800;14702039;15164053;15342556;15489334;20877624;23266187;23275563;24250222 92014 Q9H1U9 ABBA01050385;AK091407;AK094592;AK098185;AL138752;AMYH02019504;AMYH02019505;BC008500;BC063563;BG953457;BP363489;CH471071;KF459922;NM_033412;NR_024872;NR_024873 AAH08500;EAW58258;EAW58259;EAW58260;NP_219480;Q9H1U9 Hs.634120 1688440;1725705;2161104;2164896;5015404;5015861;5015881;5016596;5020274;5022322;5114032;5117897;5493553;7185938 D10S16;D11S2560;G30541;G62115;GDB:335751;GDB:631802;GDB:631813;L17705;L18441;RH18244;RH75285;RH78981;UniSTS:487200 CG7943;FLJ37273;MCART1;MGC14836 OTTHUMP00000195034;OTTHUMP00000195035;mitochondrial carrier triple repeat 1;mitochondrial carrier triple repeat protein 1;solute carrier family 25 member 51 APPROVED protein-coding ENSG00000122696 HGNC:23323 14370 VALIDATED 1352025 SLC25A51P3 solute carrier family 25, member 51 pseudogene 3 8 8 8 q21.13 77511956 77513074 - 81506985 81508103 - 80594750 80595868 - 100128119 ABBA01004061;AC009871;AMYH02018306;NG_009213 MCART5P APPROVED pseudo HGNC:31051 INFERRED 1319971 SLC25A52 solute carrier family 25, member 52 This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq, Jul 2008] 18 18 18 q12.1 26146768 26147952 - 29339659 29340843 - 31759696 31760880 - 6480464;8554872 12477932;15489334;16344560;23266187 147407 I3L0B8;Q3SY17 ABBA01022507;AC022960;AK302337;AMYH02034513;BC103999;BC104000;BC104001;DB057843;NM_001034172 AAI04000;AAI04001;AAI04002;BAG63667;NP_001029344;Q3SY17 Hs.567708 5493553 UniSTS:487200 MCART2;MGC120230;MGC120231;MGC120232 mitochondrial carrier triple repeat 2;mitochondrial carrier triple repeat protein 2;solute carrier family 25 member 52 APPROVED protein-coding ENSG00000141437 HGNC:23324 18732 VALIDATED 1603463 SLC25A53 solute carrier family 25, member 53 INVOLVED IN transport (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH atrazine; methyl methanesulfonate; trichostatin A X X X q22.2 103818515 103876331 - 103343898 103401708 - 104099214 104157027 - 6480464 12477932;15772651;23266187 401612 Q5H9E4 ABBA01019070;ABBA01019071;ABBA01019072;ABBA01019073;ABBA01019074;ABBA01019075;ABBA01019076;AC234783;AL135959;AL833609;AMYH02040176;BC035919;BC140812;BC140814;CH471120;NM_001012755;XM_005262129;Z82254 AAI40813;AAI40815;CAI41997;EAX02763;NP_001012773;Q5H9E4;XP_005262186 Hs.660022 1671995;1672758;1688823;1701170;1754643;1854656;2121201;2150931;2163099;2167636;5037552 D8S2279;L77846;L77847;L77851;RH104213;RH69847;RH79967;SGC33118;SGC34091;SHGC-132991;SHGC-58402 DKFZp686O1267;MCART6 OTTHUMP00000023764;mitochondrial carrier triple repeat 6;mitochondrial carrier triple repeat protein 6;solute carrier family 25 member 53 APPROVED protein-coding ENSG00000269743 HGNC:31894 18628 VALIDATED 1345736 SLC25A5P1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 1 22 22 22 q13.2 26202661 26204262 - 42396437 42398037 - 42000433 42002033 - 2157297 266623 ABBA01055660;AMYH02038451;NG_009276;Z99716 ANTP3;bK250D10.4 pseudo HGNC:19250 INFERRED 2304153 SLC25A5P2 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 2 2 2 2 p22.3 33903224 33904444 - 34064589 34065809 - 33839522 33840742 - 19421330;2157297 344371 ABBA01074913;AC069303;AMYH02003572;NG_009264 1750855;1784076 SHGC-104635;SHGC-149584 pseudo HGNC:35470 INFERRED 1344632 SLC25A5P3 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 3 7 7 7 p11.2 54591774 54593003 + 54487064 54488293 + 54419371 54420600 + 19425506;2157297;9847074 222005 ABBA01011841;AC073269;AMYH02015726;CH236957;NG_009279 2120602 GDB:1318338 ANTP1 pseudo HGNC:507 INFERRED 2304157 SLC25A5P4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 4 13 13 13 q21.1 38843418 38845164 + 57888799 57890551 + 57314665 57316417 + 2157297 100131027 ABBA01037017;AL353652;AL353657;AL390965;AL590100;AMYH02028106;NG_009271 1704560;1715083;1727039;1770323 D13S1814;G62918;RH119493;SHGC-83086 pseudo HGNC:35471 INFERRED 1350253 SLC25A5P5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 5 7 7 7 p14.3 32494954 32496525 + 32511041 32512613 + 32471429 32473001 + 2157297 442525 ABBA01056836;AC018641;AMYH02015476;NG_009277 ANTP5;TCAG_29001 pseudo HGNC:511 INFERRED 1352141 SLC25A5P6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 6 4 4 4 q35.2 184575615 184576840 - 187249609 187250834 - 186328455 186329680 - 2157297 644042 ABBA01070558;AC109517;AMYH02010676;NG_007588 ANTP6 pseudo HGNC:512 INFERRED 1347659 SLC25A5P7 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 7 6 6 6 q22.31 122719402 122720611 + 121974885 121976094 + 121653739 121654948 + 2157297 442255 ABBA01025990;AL603865;AMYH02014401;NG_009280 ANTP7 pseudo HGNC:513 INFERRED 2304152 SLC25A5P8 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8 9 9 9 p21.1 32262665 32263902 - 32333193 32334430 - 32333195 32334432 - 16107323;2157297 392301 ABBA01065086;AL353573;AMYH02019406;NG_009270 pseudo HGNC:35469 INFERRED 1343024 SLC25A6P1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1 20 20 20 p11.22 21796897 21797621 - 21722990 21723714 - 21742352 21743076 - 128790 ABBA01054109;AL035562;AMYH02036819;NG_003107 SLC25A5L;dJ1065O2.2 pseudo HGNC:16554 INFERRED 2304160 SLC25A5P9 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 9 5 5 5 q13.3 70941537 70942786 - 75048115 75049364 - 75752290 75753539 - 2157297 100133074 ABBA01061947;AC025170;AC108120;AMYH02011596;NG_009302 1729652 D5S349 pseudo HGNC:35468 INFERRED 6480829 SLC25A6P2 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 2 9 9 9 p21.1 31182633 31183795 + 31253779 31254941 + 31253781 31254943 + 138412 ABBA01065095;AL354854;AMYH02019392;NG_005651 pseudo HGNC:43850 INFERRED 1349745 SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Jun 2013] X X;Y X;Y p22.32 and Yp11.3 5786374 5792489 - 1505045 1511039 - 1386152 1392146 - 1580863;6480464;6907045 10620603;10926541;11756613;11872176;12112115;12450408;12477932;14726512;14746803;15033708;15063741;15163724;15489334;16120388;16169070;16189514;16196087;16201016;16226712;16556444;16712791;16930576;17220478;17715127;17855512;17979178;18457437;18729074;18781797;19111545;19380743;19669810;20000738;20186120;20972266;21081666;21139048;21145461;21252943;21706016;21853274;21890473;21906983;21963094;21987572;22178446;22268729;22797925;22810585;22939629;23000965;23246001;23266187;23464991;23798571;23891004;23973329;24163370;24250222;24337577;24583282;24657165;24816145;25027693;2541251;2823266;2829183;8486369;8490661;8619474;9110174 293 I7HJJ0;P12236;Q6I9V5 AB209822;ABBA01055727;AF076617;AF091236;AK312336;AL683870;AMYH02038681;AY007135;BC007295;BC007850;BC008737;BC008935;BC013256;BC014775;BC031912;BC035469;CB150341;CH471074;CR457400;J03592;NG_013263;NM_001636 AAA36750;AAC61590;AAG01998;AAH07295;AAH07850;AAH08737;AAH08935;AAH14775;AAH31912;ABM82404;ABM85593;BAD93059;BAG35257;CAG33681;EAW98680;NP_001627;P12236 Hs.350927 1678461;1690618;1736372;1742107;1796814;5022596 D13S873E;D9S1056E;GDB:191420;RH74927;RH79891;SLC25A6_1328 2;3;AAC3;ANT;ANT 2;ANT 3;ANT3;ANT3Y;MGC17525 ADP,ATP carrier protein 3;ADP,ATP carrier protein, isoform T2;ADP,ATP carrier protein, liver;ADP/ATP translocase 3;ADP/ATP translocator of liver;OTTHUMP00000022826;adenine nucleotide translocator 3;solute carrier family 25 member 6 APPROVED protein-coding HGNC:10992 02461 300151;403000 REVIEWED 6480850 SLC25A6P3 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 3 1 1 1 50461292 50462148 + 52174755 52175611 + 51709083 51709939 + 100422686 ABBA01074788;AL050343;AMYH02001002;NG_027091 1706922 SHGC-80950 pseudo HGNC:43852 INFERRED 6480849 SLC25A6P4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 4 18 18 18 74608180 74608722 + 77835609 77836151 + 80077707 80078249 + 100422690 ABBA01013902;AC090360;AC139100;AMYH02035070;NG_026343 pseudo HGNC:43853 INFERRED 6480836 SLC25A6P5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 5 9 9 9 q31.2 79117125 79118008 + 108611991 108612874 + 105849710 105850593 + 100129319 ABBA01042811;AL592488;AMYH02021401;AMYH02021402;NG_021673 pseudo HGNC:43854 INFERRED 6480835 SLC25A6P6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 6 6 6 6 q13 71761570 71762347 - 71373205 71373982 - 70663502 70664279 - 100128312 ABBA01040270;AL354943;AMYH02013877;NG_022309 pseudo HGNC:43855 INFERRED 1607018 SLC25A40 solute carrier family 25, member 40 SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 7 7 7 q21.12 82168374 82210252 - 87462885 87505692 - 87833561 87876377 - 6480464 12477932;12690205;16949250;17207965;20877624;23266187;24268658;8125298 55972 F2Z3Q4;F8WEL8;Q8TBP6 ABBA01045863;ABBA01045864;AC003083;AF125531;AI037919;AK223020;AK290848;AMYH02016224;BC027322;BU933121;BX362003;CH236949;CH471091;NM_018843;XM_005250496;XM_005250497;XM_006716050;XR_242257 AAF17225;AAH27322;AAS07443;ADQ31676;BAD96740;BAF83537;EAL24171;EAW76933;EAW76934;EAW76935;NP_061331;Q8TBP6;XP_005250553;XP_005250554;XP_006716113 Hs.208414 2136144;2171105;2173922 D7S2012;D7S2786;D7S2883 MCFP OTTHUMP00000161660;mitochondrial carrier family protein;solute carrier family 25 member 40 APPROVED protein-coding ENSG00000075303 HGNC:29680 14372 610821 VALIDATED 1605262 SLC25A43 solute carrier family 25, member 43 This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009] X X X q24 118987995 119043163 + 118533258 118588441 + 119399295 119454478 + 6480464;8554872 12477932;14702039;16949250;17207965;19322201;21145461;21623375;22430806;22883974;23266187;23354756 203427 B3KRB9;B4E1P8;Q8WUT9 ABBA01036677;ABBA01036678;ABBA01036679;ABBA01036680;ABBA01036681;ABBA01036682;ABBA01036683;ABBA01036684;ABBA01036685;AC004000;AC004973;AK091304;AK094254;AK292035;AK303932;AL590525;AMYH02040327;AMYH02040328;AMYH02040329;AMYH02040330;AMYH02040331;BC019584;BC071871;BM907537;CH471161;KF459319;NG_016298;NM_145305;XM_005262390;XM_005262391;XM_005262392;XM_006724738;XM_006724739 AAC62432;AAH19584;AAH71871;ADQ32319;BAC04318;BAF84724;BAG52331;BAG64860;CAC36518;EAW89873;EAW89874;EAW89875;NP_660348;Q8WUT9;XP_005262447;XP_005262448;XP_005262449;XP_006724801;XP_006724802 Hs.496658 1666767;1694322;5019611;5094112;5094114;5094120 AL023949;G42856;G54520;G54552;G54553;G54557 OTTHUMP00000023899;solute carrier family 25 member 43 APPROVED protein-coding ENSG00000077713 HGNC:30557 06617 300641 REVIEWED 736905 SLC26A1 solute carrier family 26 (anion exchanger), member 1 This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 909807 924170 - 972861 987228 - 979073 994198 - 1580863;6480464;8554872 11087667;11581495;12477932;12713736;17119850;17881426;19850743;21093948;23815884;24250268;24647542 10861 Q3SX88;Q9H2B4 ABBA01019349;AC019103;AF297659;AK292747;AMYH02008564;AY124771;BC015517;BF589989;CH471131;NG_033042;NM_022042;NM_134425;NM_213613;XM_006713856;XM_006713857;XM_006713858 AAG22075;AAH15517;AAI56323;AAI57109;AAM94171;BAF85436;EAW82628;EAW82629;NP_071325;NP_602297;NP_998778;Q9H2B4;XP_006713919;XP_006713920;XP_006713921 Hs.658244 1684124;1742307;1743897;1796816;5120824 GDB:196305;GDB:375216;GDB:375219;SHGC-67289;SLC26A1_1601 EDM4;SAT-1;SAT1 OTTHUMP00000217306;OTTHUMP00000217307;OTTHUMP00000217308;solute carrier family 26 (sulfate transporter), member 1;solute carrier family 26 member 1;sulfate anion tranporter AT1;sulfate anion transporter 1;sulfate transporter;sulfate/anion transporter SAT-1 protein APPROVED protein-coding ENSG00000145217 HGNC:10993 15361 610130 REVIEWED 1345527 SLC26A10 solute carrier family 26, member 10 ENCODES a protein that exhibits antiporter activity (inferred); sulfate transmembrane transporter activity (inferred); INVOLVED IN sulfate transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; arsenous acid; cadmium atom 12 12 12 q13 57669508 57675749 + 58013693 58019934 + 57619910 57626151 + 1580863;6480464 12477932;14702039;22082156 65012 E9PIH7;H0Y683;Q8NG04 ABBA01026695;AC025165;AF331523;AK122981;AK314085;AL050358;AMYH02026588;BC068027;NM_133489 AAM92901;BAC85515;NP_597996;Q8NG04 Hs.727726 2122078;2151807;5021876 D12S1969;RH1607;ha1547 FLJ32854 OTTHUMP00000158621;OTTHUMP00000205604;solute carrier family 26 member 10 protein-coding ENSG00000135502 HGNC:14470 10234 VALIDATED 1314648 SLC26A11 solute carrier family 26 (anion exchanger), member 11 This gene encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intracellular electrolyte balance. The encoded protein is a sodium independent sulfate transporter that is sensitive to the anion exchanger inhibitor 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 17 17 17 q25.3 74838390 74854977 + 78194200 78227308 + 80220401 80253509 + 6480464 12477932;12626430;14702039;16303743;16344560;17071331;17693766;19056867;21752829;21890473;21906983;23000965;24647542 284129 I3L0N9;I3L124;I3L1H1;I3L250;I3L266;I3L2J9;I3L3K8;Q86WA9 ABBA01015407;AC123764;AF331524;AF345195;AI963799;AJ544073;AK027293;AK075248;AK315132;AL833468;AMYH02034102;BC015160;BC035900;BC047451;CH471099;CQ784015;CQ834674;DA290933;NM_001166347;NM_001166348;NM_001166349;NM_173626;XM_006721833;XM_006721834;XM_006721835;XM_006721836;XR_429884 AAH15160;AAH35900;AAH47451;AAM92902;AAO26673;BAC11496;BAG37584;CAD66450;CAF86970;CAH05552;EAW89592;NP_001159819;NP_001159820;NP_001159821;NP_775897;Q86WA9;XP_006721896;XP_006721897;XP_006721898;XP_006721899 Hs.4866 1699066;1765737;2164398;2164400;5014051;5015619;5037552 A001Z20;D11S3114;D8S2278;D8S2279;G19817;RH103108;SHGC-149168 MGC46523 OTTHUMP00000164618;sodium-independent sulfate anion transporter;solute carrier family 26, member 11 APPROVED protein-coding ENSG00000181045 HGNC:14471 11569 610117 REVIEWED 6767343 SLC26A4-AS1 SLC26A4 antisense RNA 1 ASSOCIATED WITH DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (inferred); Pendred syndrome (inferred) 7 7 7 q22.3 102102282 102107564 - 107296961 107302243 - 107656516 107661798 - 8554872 10737800;12477932;14702039;16344560 286002 ABBA01057906;AC002467;AC078937;AK091347;AMYH02016516;BC022493;BC037315;BC047092;BC052342;BI002805;CH236947;DA291647;DA295451;DB535533;NG_008489;NR_028137 Hs.512611 2163364 G36378 APPROVED ncrna ENSG00000233705 HGNC:22385 VALIDATED 1603482 SLC26A5 solute carrier family 26 (anion exchanger), member 5 This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009] 7 7 7 q22.1 97800386 97892942 - 102993177 103086624 - 103352730 103446177 - 6480464;7240710;9585684;9585667;8699517;9479051;9585687;9585690;9479050;7364803;8554872;9479049;9585686 12719379;15319415;16086836;17520268;19111601;19176829;19363478;23554706;24376553 10821263;11087667;11423665;11581495;11836512;11867734;12239568;12477932;12853948;14747354;15140192;15660259;16344560;16873410;17151276;17786286;17933870;18073211;18567583;18988928;19027966;19492055;19515900;19737539;19926791;20301607;20471983;20668687;21813750;21975444;23212912;23506885;23660400;23665419;23762468;24138858;24453323;24647542;9847074 375611 E9PCM2;F8WD50;F8WDL4;P58743;Q496J0;Q496J1;Q496J3;Q7Z7F4 ABBA01057985;ABBA01057986;ABBA01057987;ABBA01057988;AC004668;AC005064;AC093701;AF523354;AK126898;AMYH02016449;AMYH02016450;AMYH02016451;AY256823;AY256824;AY256825;AY289133;AY289134;BC100832;BC100833;BC100834;BC100835;CH236947;CH471070;DA197655;NG_023055;NM_001167962;NM_198999;NM_206883;NM_206884;NM_206885;NR_120441;NR_120442;NR_120443;XM_006715975;XM_006715976 AAI00833;AAI00834;AAI00835;AAI00836;AAP31417;AAP31532;AAP31533;AAP31534;AAP43685;AAP43686;EAW83334;EAW83335;NP_001161434;NP_945350;NP_996766;NP_996767;NP_996768;P58743;XP_006716038;XP_006716039 Hs.585146 1775653;2123879;2147014;2176493 B296YE5;RH11504;RH69239;SGC32632 DFNB61;MGC118886;MGC118887;MGC118888;MGC118889;PRES OTTHUMP00000195085;OTTHUMP00000195086;OTTHUMP00000195087;OTTHUMP00000195088;OTTHUMP00000195089;OTTHUMP00000195090;OTTHUMP00000195091;OTTHUMP00000195092;OTTHUMP00000211774;OTTHUMP00000211775;OTTHUMP00000211776;prestin;prestin (motor protein);solute carrier family 26, member 5 (prestin) APPROVED protein-coding ENSG00000170615 HGNC:9359 09224 604943;613865 REVIEWED 1320955 SLC26A6 solute carrier family 26 (anion exchanger), member 6 This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013] 3 3 3 p21.3 48619066 48628836 - 48663156 48672926 - 48625723 48635493 - 1580863;6480464;8554872 10610771;11087667;11247665;11581495;12217875;12444019;12477932;14531806;14702039;15489334;15548529;15956810;15990874;16344560;16606687;17081983;17120764;17881426;18174209;18655181;18951670;19029225;19367581;19910524;20501439;21906983;21963094;21987572;22053931;24647542 65010 C9J6Y3;C9JKR6;F8W9I8;G3XAC1;H7BZ36;H7BZB1;H7BZJ6;H7C291;Q96MZ1;Q9BXS9;Q9Y3Y1 AB033288;AB102713;AB208936;ABBA01024642;AC121252;AF161369;AF195347;AF279265;AF288410;AF416721;AK056237;AK297695;AL050170;AMYH02006723;BC017697;CH471055;DA702248;NM_001040454;NM_001281732;NM_001281733;NM_022911;NM_134263;NM_134426 AAF20748;AAF28929;AAF81911;AAH17697;AAK19153;AAN07094;ABM82647;ABW03410;ACE87477;BAB69041;BAB71126;BAC56861;BAD92173;BAG60053;CAB43306;EAW64900;EAW64901;EAW64902;EAW64903;EAW64904;EAW64905;EAW64906;EAW64907;EAW64908;EAW64909;EAW64910;EAW64911;EAW64912;EAW64913;NP_001035544;NP_001268661;NP_001268662;NP_075062;NP_599025;NP_602298;Q9BXS9 Hs.631925;Hs.663208 2159522;2189365;2218368;5019136 CELSR3_4553;D3S4222;MARC_2903-2904:991933693:1;RH102367 DKFZp586E1422 OTTHUMP00000210293;OTTHUMP00000210294;OTTHUMP00000210295;OTTHUMP00000210296;OTTHUMP00000210298;anion exchange transporter;anion transporter 1;pendrin L1;pendrin-L1;pendrin-like protein 1;solute carrier family 26 member 6;solute carrier family 26, member 6;sulfate anion transporter APPROVED protein-coding ENSG00000225697 HGNC:14472 10235 610068 REVIEWED 732042 SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013] X X X q24 119057070 119060067 + 118602363 118605359 + 119468400 119471396 + 1580863;6480464;6907045 10620603;11287411;11602586;12450408;12477932;12777383;12777385;14598172;15486956;15489334;15772651;16120388;16196087;17203973;17207965;17609381;17715127;18063578;18215124;18267033;18457437;18729074;18781797;19154410;19167051;19380743;19725029;19738201;19805454;19946888;20020773;20186120;20875141;20950584;20972266;21113133;21139048;21145461;21182205;21252943;2157297;2168878;21706016;21853274;21890473;21906983;21907836;21963094;21987572;22053931;22178446;22268729;22505724;22623428;22707389;22797925;22810585;22939629;23000965;23084401;23125841;23150669;23184937;23242177;23246001;23266187;23306701;23402259;23431365;23438482;23464991;23783460;23798571;23824909;23874603;23973329;24244333;24296486;24337577;24457600;24583282;24639526;24654937;24816145;25027693;2829183;3031073;7713517;8918809;9315697;9698557 292 P05141;Q6NVC0 ABBA01036674;AC004000;AK315292;AMYH02040332;BC056160;BC068199;BQ223988;CH471161;DB555059;DR759917;J02683;J03591;L78810;M57424;NG_013262;NM_001152 AAA35579;AAA36749;AAA51737;AAB39266;AAB96347;AAH56160;AAH68199;ADQ32589;BAG37698;EAW89868;EAW89869;EAW89870;NP_001143;P05141 Hs.632282 1682129;1744959;1794164;5106710 G22154;GDB:583346;PMC310799P1;RH44917 2F1;AAC2;ANT 2;ANT2;T2;T3 ADP,ATP carrier protein 2;ADP,ATP carrier protein, fibroblast isoform;ADP/ATP carrier protein;ADP/ATP translocase 2;OTTHUMP00000024324;adenine nucleotide translocator 2 (fibroblast);solute carrier family 25 member 5 APPROVED protein-coding ENSG00000005022 HGNC:10991 02147 300150 REVIEWED 1321983 SLC26A7 solute carrier family 26 (anion exchanger), member 7 This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013] 8 8 8 q23 88455583 88604581 + 92261508 92410378 + 91209494 91398155 + 6480464;8554872 11581495;11829495;1183472;11834742;12477932;12736153;12965893;14702039;15284286;15956810;16524946;21822266;21897333;24647542 115111 E5RFH2;E5RGL8;H0YB61;Q8TE54 ABBA01037417;ABBA01037418;AC087847;AC104966;AC104967;AF331521;AI758950;AJ413228;AJ413229;AJ413230;AK122933;AMYH02018401;AMYH02018402;AW235609;AX960423;BC113866;BC114474;CH471060;KC877270;NM_001282356;NM_001282357;NM_052832;NM_134266 AAI13867;AAI14475;AAK95665;CAC88370;CAC88371;CAC88372;CAF06391;EAW91679;EAW91680;NP_001269285;NP_001269286;NP_439897;NP_599028;Q8TE54 Hs.354013 1704070;1709164;1709416;1779976;1798194 SHGC-154221;SHGC-81740;SHGC-83337;SHGC-85744;SLC26A7_2006 MGC126268;SUT2 OTTHUMP00000225731;OTTHUMP00000225732;OTTHUMP00000225733;anion exchange transporter;solute carrier family 26, member 7;sulfate anion transporter APPROVED protein-coding ENSG00000147606 HGNC:14467 10533 608479 REVIEWED 1346275 SLC26A3 solute carrier family 26 (anion exchanger), member 3 The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008] 7 7 7 q31 102213002 102250772 - 107405912 107443678 - 107765467 107803233 - 1600011;1580863;6480464;7240710;8554872;8699517 8896562 11087667;11524734;11581495;11834742;12369822;12372813;12442266;12477932;12651923;15342556;15480750;15489334;15766278;16412765;16421216;16606687;16715296;17761837;18216024;19056765;19122664;19321737;19447883;19915573;19940027;20044511;20634435;21068358;21150650;21394828;21694535;22159084;22627094;23274434;23382691;23660504;23756661;24647542;7683425;8020951;8140616;9473459;9554749;9717812;9718329 1811 C9JFJ2;F8WBL6;P40879 ABBA01057902;ABBA01057903;ABBA01057904;AC002467;AC005046;AK300651;AMYH02016518;BC025671;BP262081;BX640837;CH236947;CH471070;L02785;NG_008046;NM_000111;XM_006715873 AAA58443;AAB88772;AAH25671;ABM82476;ABW03417;BAG62339;CAE45910;EAW83418;EAW83419;EAW83420;NP_000102;P40879;XP_006715936 Hs.1650 1772002;1858082;2177308 D7S2740;DRA;STS-L02785 CLD;DRA OTTHUMP00000206742;chloride anion exchanger;down-regulated in adenoma protein;solute carrier family 26, member 3 APPROVED protein-coding ENSG00000091138 HGNC:3018 00544 126650;214700 REVIEWED 732217 SLC26A2 solute carrier family 26 (anion exchanger), member 2 The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008] 5 5 5 q31-q34 145421686 145448348 + 149340300 149366963 + 149960737 149987400 + 1600010;1580863;6480464;7240710;8554872;8699517 8571951 10466420;11087667;11457925;11558903;11581495;11834742;12193993;12477932;12966518;14692227;15489334;15523498;16719839;17081983;17393463;1783404;18056413;18708426;19371798;20219950;20301483;20301493;20301524;20301689;20460514;20634891;21077202;21077204;21139048;21155763;21890473;21922596;22190686;22939629;23453247;23840040;24222123;24591336;24647542;7923357;8528239;9575183;9822202 1836 C9JAN6;H0YA38;P50443 ABBA01026288;AC008427;AF190156;AF190160;AK025078;AK290358;AK312596;AMYH02012453;AMYH02012454;AMYH02012455;AW089339;BC059390;BI912879;BQ437711;BX640696;NG_007147;NM_000112;U14528 AAA70081;AAH59390;AAQ13700;AAQ13704;BAF83047;BAG35488;CAE45819;NP_000103;P50443 Hs.302738 1665661;1666016;1796818;1854163;2169545;5015861;5037552;7185938 D10S16;D5S2618;D5S2656;D8S2279;RH65249;RH70569;SLC26A2_830 D5S1708;DTD;DTDST;EDM4;MST153;MSTP157 OTTHUMP00000160529;diastrophic dysplasia protein;diastrophic dysplasia sulfate transporter;solute carrier family 26 (sulfate transporter), member 2;solute carrier family 26 member 2;sulfate anion transporter 1;sulfate transporter APPROVED protein-coding ENSG00000155850 HGNC:10994 05990 222600;226900;256050;600972;606718 REVIEWED 1321344 SLC26A9 solute carrier family 26 (anion exchanger), member 9 This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms.[provided by RefSeq, Dec 2008] 1 1 1 q32.1 179018544 179048971 - 205882176 205912588 - 205913048 205943460 - 6480464;8554872 11581495;11834742;12477932;14702039;15800055;16344560;17120765;17255364;17673510;18769029;19199708;19289574;19643730;20331378;20658517;21107309;21439353;21809345;22466613;22544634;22945630;23670970;24272871;24647542 115019 B3KXK1;Q7LBE3 ABBA01027400;ABBA01027401;AF314958;AF331525;AK091876;AK127491;AL713965;AMYH02002551;BC037978;BC136538;BC144233;BC151208;CH471067;DA333352;NM_052934;NM_134325;XM_006711144 AAI36539;AAI51209;AAK95667;AAL26867;BAC03763;BAG54513;EAW91587;EAW91588;NP_443166;NP_599152;Q7LBE3;XP_006711207 Hs.164073 1796824 SLC26A9_1722 OTTHUMP00000034236;OTTHUMP00000034326;anion transporter/exchanger protein 9;anion transporter/exchanger-9;solute carrier family 26 member 9;solute carrier family 26, member 9 APPROVED protein-coding ENSG00000174502 HGNC:14469 12242 608481 REVIEWED 1347727 SLC26A8 solute carrier family 26 (anion exchanger), member 8 This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010] 6 6 6 p21 37465857 37546973 - 35911291 35992413 - 35943514 36028898 - 1580863;6480464;7240710;8554872;8699517 11278976;11581495;11829495;1183472;11834742;12477932;14702039;15579655;17975119;19023099;19221096;19578796;19913121;20379614;20628086;21822266;23582645;24647542;7707528 116369 C9JMV8;H7C4T4;H7C5E6;Q96RN1 ABBA01038246;ABBA01038247;ABBA01038248;ABBA01038249;AF314959;AF331522;AI015633;AK055314;AK057276;AK097410;AK122928;AK125189;AL133507;AMYH02013548;AMYH02013549;AMYH02013550;AMYH02013551;BC025408;BG702985;CH471081;NG_033897;NM_001193476;NM_052961;NM_138718;XM_006714996;Z95152 AAH25408;AAK95666;AAL26868;ADZ15533;BAB71408;EAX03862;EAX03863;EAX03864;EAX03865;EAX03866;NP_001180405;NP_443193;NP_619732;Q96RN1;XP_006715059 Hs.435836 1648718;1695692;1796822;2161373;2183125;5018953;5022450 AL024479;D10S275;D6S1285;G42236;RH63736;SHGC-78735;SLC26A8_1266 FLJ32714;SPGF3;TAT1 OTTHUMP00000016279;OTTHUMP00000215704;OTTHUMP00000215705;SLC26A8 {ECO:0000312|EMBL:AAK95666.1};anion exchange transporter;anion transporter/exchanger-8;solute carrier family 26, member 8;testis anion transporter 1 APPROVED protein-coding ENSG00000112053 HGNC:14468 12241 606766;608480 REVIEWED 736428 SLC26A4 solute carrier family 26 (anion exchanger), member 4 Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008] 7 7 7 q31 102106401 102163591 + 107301080 107358254 + 107660635 107717809 + 1599215;1599216;1599217;1580863;6480464;7240710;7411553;7411670;7411669;7421508;7411556;7411562;7421514;7421510;634144;7411543;7411559;7411671;7411554;8554872;8699517 11152663;11317356;12388388;12974744;14508505;15355436;16570074;17120771;17299139;18167283;19509082;19645628;20128824;21965328;23874234 10190331;10192399;10602116;10700480;10718825;10843192;10878664;11087667;11274445;11375792;11581495;11716048;11748854;11834742;11919333;11932316;12112665;12676893;12727855;12727986;12788906;12853948;14679580;14715652;15155570;15279074;15531480;15679828;15689455;15784681;15905611;16260428;16260629;16283880;16684826;16928804;17007371;17309986;17443271;17503324;17690912;17697873;17718863;17766716;17851929;17854396;17949297;18067822;18075246;18250610;18274916;18283249;18285825;18310264;18316665;18322141;18335745;18368581;18424749;18427006;18585793;18641360;18641518;18692402;18710471;18813951;18988928;19017801;19027966;19040761;19050049;19056867;19196800;19199245;19204907;19266817;19287372;19289392;19426954;19429184;19558834;19578036;19608655;19615760;19648736;19673989;19718752;19730683;19744334;19786220;19787632;19954013;19998422;20056178;20235449;20301607;20301640;20359100;20483489;20553101;20597900;20601923;20621367;20668687;20739942;20826203;20842945;20857898;20931531;21035230;21045265;21154317;21162657;21174747;21187047;21366435;21416585;21757707;21809555;21814192;21914796;21961810;22116356;22116359;22116360;22285650;22389666;22412181;22429511;22444735;22509691;22551242;22717225;22750442;22796198;22884721;22906308;22918213;22924538;23151031;23174149;23185506;23246836;23273637;23280318;23296490;23336812;23385134;23401162;23452581;23504402;23638949;23705809;23743675;23766534;23770805;23815884;23834103;23838540;23958391;23965030;24051746;24105851;24245694;24248179;24338212;24341454;24429826;24429829;24647542;8541853;8630497;8630498;8706311;9070918;9398842;9500541;9618166;9618167 5172 B7Z6M6;C9JQG1;O43511 ABBA01057905;ABBA01057906;AC002467;AC078937;AF030880;AK294388;AK298543;AK300604;AMYH02016516;CH236947;CH471070;NG_008489;NM_000441;XM_005250425;XM_005250426;XM_006716024;XM_006716025 AAB88773;AAC51873;AAI48376;AAI53003;AAS02011;BAH11752;BAH12811;BAH13312;EAW83414;NP_000432;O43511;XP_005250482;XP_005250483;XP_006716087;XP_006716088 Hs.571246 1341782;1796820;2163364;5014051;5015619;5021872;5037552;7183706 D11S3114;D7S2459;D8S2278;D8S2279;G36378;SLC26A4_832;sY3084 DFNB4;EVA;PDS;TDH2B OTTHUMP00000206717;pendrin;sodium-independent chloride/iodide transporter;solute carrier family 26, member 4 APPROVED protein-coding ENSG00000091137 HGNC:8818 05735 274600;600791;605646 REVIEWED 1604940 SLC27A1 solute carrier family 27 (fatty acid transporter), member 1 ENCODES a protein that exhibits catalytic activity (inferred); fatty acid transporter activity (inferred); nucleotide binding (inferred); INVOLVED IN cardiolipin biosynthetic process; negative regulation of phospholipid biosynthetic process; phosphatidic acid biosynthetic process; ASSOCIATED WITH increased circulating triglyceride level; ASSOCIATED WITH Glucose Intolerance (ortholog); Hyperinsulinism (ortholog); Hyperlipidemias (ortholog); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; arsenite(3-) 19 19 19 p13.11 17482907 17518593 + 17581300 17616977 + 17405703 17506168 + 1642793;1642790;1642794;1642800;6480464 10807750;15281014;16611988;17034771 10873384;12235169;12477932;12818409;15489334;15897321;15978856;18660489;19361580;19523918;19913121;19946888;20356843;20360315;20416077;20628086;20965718;24120574;7954810;9671728 376497 B7Z225;M0QXY2;M0QZC9;Q6PCB7 ABBA01051205;ABBA01051206;ABBA01051207;ABBA01051208;ABBA01051209;AC010319;AC010618;AK131101;AK294238;AK296355;AK299852;AK315935;AMYH02035708;BC013149;BC059399;CH471106;NM_198580;XM_006722749 AAH13149;AAH59399;BAC85151;BAH11711;BAH12327;BAH13148;BAH14306;EAW84609;EAW84610;EAW84611;NP_940982;Q6PCB7;XP_006722812 Hs.363138 2107597;5015861;5022769;5024039;5109281;7185938 D10S16;D16S325;D1S1425;SLC27A1;SLC27A1_7258 ACSVL5;FATP;FATP-1;FATP1;FLJ00336;MGC71751 fatty acid transport protein 1;long-chain fatty acid transport protein 1;solute carrier family 27 member 1 protein-coding ENSG00000130304 HGNC:10995 11863 600691 PROVISIONAL 1321607 SLC27A3 solute carrier family 27 (fatty acid transporter), member 3 ENCODES a protein that exhibits catalytic activity (inferred); fatty-acyl-CoA synthase activity (inferred); ligase activity (inferred); INVOLVED IN fatty acid metabolic process (inferred); metabolic process (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4',5-pentachlorobiphenyl; aflatoxin B1 1 1 1 q21.3 126819362 126824227 + 153746830 153752633 + 153774354 153780157 + 6480464 12477932;12975309;14702039;15469937;15489334;16710414;19920185;19946888;20965718;21906983;21987572;23936004;24250222;24457600;9671728 11000 H0YDM5;H0YDP0;H7BZH4;Q5K4L6;X6R3N0 ABBA01049450;AJ577572;AK027499;AK074134;AK075377;AK123997;AK125102;AL513523;AMYH02001907;AY358409;BC003041;BC003654;BC009916;BC029792;CH471121;NM_024330;XM_005244852;XM_005276734 AAH03041;AAH03654;AAH09916;AAH29792;AAQ88775;ABM84355;ABM86877;BAB55156;BAB84960;BAC11578;BAC86050;CAE12158;CAE12159;EAW53274;EAW53275;EAW53276;EAW53277;EAW53278;NP_077306;Q5K4L6;XP_005244909;XP_005276791 Hs.438723 1649155;1676123;1677810;1734638;2108479;2120117 A005A27;D1S1775E;RH36580;RH80662;RH94084;SLC27A3_7986 ACSVL3;FATP-3;FATP3;MGC4365;VLCS-3 OTTHUMP00000035252;OTTHUMP00000038688;fatty acid transport protein 3;long-chain fatty acid transport protein 3;solute carrier family 27 member 3;very long-chain acyl-CoA synthetase homolog 3 protein-coding ENSG00000143554 HGNC:10997 11967 604193 PROVISIONAL 1346073 SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 15 15 15 q21.2 27367005 27421191 + 50474393 50528589 + 50182196 50236392 + 1580863;6480464;8554872 10198260;10471116;10479480;10640429;11980911;12477932;14702039;15161933;16756494;16781659;17998437;18781797;19056867;20178365;20965718;21768100;21890473;21906983;22028793;22939629;24113382;24816145;8125298;8889548;8939997;9671728;9730624 11001 G3V1R7;O14975 ABBA01039117;ABBA01039118;AC009753;AF096290;AK123905;AK222859;AK223145;AK290262;AMYH02030397;AMYH02030398;AMYH02030399;BC057770;BM980042;CH471082;D88308;NM_001159629;NM_003645 AAC64973;AAH57770;BAA23644;BAD96579;BAD96865;BAF82951;BAG53981;EAW77384;EAW77385;EAW77386;NP_001153101;NP_003636;O14975 Hs.11729 2139659;2155310;2217990;5022028 BP230006B20H5;D15S1254;D15S918;SLC27A2_2923 ACSVL1;FACVL1;FATP-2;FATP2;HsT17226;VLACS;VLCS;hFACVL1 OTTHUMP00000162414;THCA-CoA ligase;fatty acid transport protein 2;fatty-acid-coenzyme A ligase, very long-chain 1;long-chain-fatty-acid--CoA ligase;solute carrier family 27 member 2;very long-chain acyl-CoA synthetase;very long-chain fatty-acid-coenzyme A ligase 1;very long-chain-fatty-acid-CoA ligase;very-long-chain acyl-CoA synthetase APPROVED protein-coding ENSG00000140284 HGNC:10996 11935 603247 REVIEWED 1349953 SLC27A5 solute carrier family 27 (fatty acid transporter), member 5 The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 56053816 56067542 - 59009700 59023432 - 58498333 58512065 - 1580863;6480464;6907045;8554872 10471116;10479480;10749848;11980911;14702039;15231747;16552721;17266179;20945272;22089923;23415802;9642112;9671728 10998 M0R075;Q9Y2P5 AB208931;ABBA01020764;ABBA01020765;AC012313;AF064255;AK026640;AK123036;AK298446;AMYH02036537;AMYH02036538;BX103174;CH471135;NM_012254 AAD29444;AAI46388;AAI48808;BAD92168;BAG53858;BAG60663;EAW72601;NP_036386;Q9Y2P5 Hs.292177 1664829;1672064;2119234;2136662;5015861;5016478;5016596;5020414;5020946;5020948;5022200;5022322;5022450;5022578;5024272;5024761;5037552;5092786;5109281;5126439;7185938 A005O38;A006E09;D10S16;D10S275;D11S2560;D1S1423;D1S1425;D2S1254;D8S2279;G32329;G35510;GDB:434012;GDB:631802;L17688;L17971;L18426;RH17933;RH36905;SHGC-33055;SHGC-57775 ACSB;ACSVL6;BACS;BAL;FACVL3;FATP-5;FATP5;FLJ22987;VLACSR;VLCS-H2;VLCSH2 BA-CoA ligase;VLACS-related;bile acid-CoA ligase;bile acyl-CoA synthetase;cholate--CoA ligase;fatty acid transport protein 5;fatty-acid-Coenzyme A ligase, very long-chain 3;solute carrier family 27 member 5;very long-chain acyl-CoA synthetase homolog 2;very long-chain acyl-CoA synthetase-related protein APPROVED protein-coding ENSG00000083807 HGNC:10999 04499 603314 REVIEWED 1323714 SLC27A6 solute carrier family 27 (fatty acid transporter), member 6 This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q23.3 124432488 124500533 + 128300951 128369335 + 128965258 129033642 + 1642800;6480464;8554872 17034771 10471116;10479480;10749848;12477932;12556534;15489334;16169070;18976975;19322201;20965718;21906983;21920065;9671728 28965 D6RAJ2;Q9Y2P4 AA614135;ABBA01068859;ABBA01068860;ABBA01068861;AC004636;AC006959;AF064254;AK313456;AL833117;AMYH02012173;BC041945;BX537383;CH471062;CR457129;KC877105;NM_001017372;NM_014031;XM_005271967;XM_005271968;XM_005271969;XM_005271970;XM_005271971 AAD29443;AAH41945;BAG36243;CAD97625;CAG33410;EAW62387;NP_001017372;NP_054750;Q9Y2P4;XP_005272024;XP_005272025;XP_005272026;XP_005272027;XP_005272028 Hs.49765 1690828;1751417;2110743 RH92144;SHGC-105248;SLC27A6_7213 ACSVL2;DKFZp779M0564;FACVL2;FATP-6;FATP6;VLCS-H1;VLCSH1;hVLCS-H1 OTTHUMP00000159240;OTTHUMP00000223224;OTTHUMP00000223225;fatty acid transport protein 6;fatty-acid-Coenzyme A ligase, very long-chain 2;long-chain fatty acid transport protein 6;solute carrier family 27 member 6;very long-chain acyl-CoA synthetase homolog 1 APPROVED protein-coding ENSG00000113396 HGNC:11000 09173 604196 REVIEWED 733249 SLC28A1 solute carrier family 28 (concentrative nucleoside transporter), member 1 ENCODES a protein that exhibits nucleoside binding (inferred); nucleoside transmembrane transporter activity (inferred); nucleoside:sodium symporter activity (inferred); INVOLVED IN nucleobase-containing compound metabolic process (inferred); nucleoside transmembrane transport (inferred); nucleoside transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2'-deoxycytidine; 5-aza-2'-deoxycytidine; 5-azacytidine 15 15 15 q25.3 61854219 61915476 + 85427794 85489027 + 84884604 84945796 + 1580863;6480464;8554872 10087507;10455109;11353816;11396613;12097333;12388627;12411296;12477932;14581375;14668133;14978229;15386342;15456697;17187757;17279631;17453413;17926640;18207572;18538445;18600541;18604194;18635603;19074885;19107936;19139132;19228884;19647871;19912163;20028759;20392501;20665488;20734919;20854794;21343396;21998139;22005931;22580602;22644860;23722537;9124315 9154 B7Z3L5;B7Z3L6;B7Z3M4;B7Z533;O00337;Q96PL7 ABBA01052950;AC087468;AC103741;AF187978;AF309632;AK291997;AK296074;AK296075;AK296119;AK298369;AK309578;AMYH02030958;AMYH02030959;BC029788;BC039898;BC126204;BC126206;BC143908;BI765705;CH471101;NM_001287761;NM_001287762;NM_004213;NM_201651;U62967;U62968;XM_005254989;XM_005254991;XM_005254993 AAB53838;AAB53839;AAF15353;AAH29788;AAH39898;AAI26205;AAI26207;AAL09447;ADR83106;BAF84686;BAH12251;BAH12252;BAH12260;BAH12769;EAX01962;EAX01963;EAX01964;NP_001274690;NP_001274691;NP_004204;NP_964014;O00337;XP_005255046;XP_005255048;XP_005255050 Hs.459187 1698468;1740555;2220016 D15S1123;RH102783;SLC28A1_4162 CNT 1;CNT1;HCNT1 Na(+)/nucleoside cotransporter 1;OTTHUMP00000192893;OTTHUMP00000192894;concentrative nucleoside transporter 1;sodium-coupled nucleoside transporter 1;sodium/nucleoside cotransporter 1;solute carrier family 28 (sodium-coupled nucleoside transporter), member 1;solute carrier family 28 member 1 APPROVED protein-coding ENSG00000156222 HGNC:11001 07068 606207 VALIDATED 732572 SLC28A2 solute carrier family 28 (concentrative nucleoside transporter), member 2 ENCODES a protein that exhibits nucleoside binding (inferred); nucleoside:sodium symporter activity (inferred); purine nucleoside transmembrane transporter activity (inferred); INVOLVED IN nucleobase-containing compound metabolic process (inferred); nucleoside transmembrane transport (inferred); purine nucleoside transmembrane transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of plasma membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH adenosine; sodium atom; uridine 15 15 15 q15 22435715 22459420 + 45544428 45568132 + 45252230 45275934 + 1580863;6480464;8554872 10087507;10455109;11162617;11602688;12110519;12411296;12477932;12893280;15044622;15486050;15489334;15861032;16840788;17187757;17453413;17696452;17700367;17926640;18635603;19074885;19098160;20028759;20379614;20392501;20506327;22229870;23149444;23195617;8125298;9435697 9153 H0YNK4;H0YNM6;O43868;Q2M2A7;Q53H72 ABBA01039186;AC051619;AF036109;AK025121;AK222709;AK291974;AMYH02030356;BC093737;BC112047;CH471082;KF456038;NM_004212;U84392 AAB88539;AAC51930;AAH93737;AAI12048;BAD96429;BAF84663;EAW77303;EAW77304;NP_004203;O43868 Hs.367833 5014051;5015619;5022200;5037552 D11S3114;D8S2278;D8S2279;L18426 CNT 2;CNT2;FLJ21468;HCNT2;HsT17153;MGC138252;SPNT;SPNT1 Na(+)/nucleoside cotransporter 2;OTTHUMP00000162119;concentrative nucleoside transporter 2;sodium-coupled nucleoside transporter 2;sodium/nucleoside cotransporter 2;sodium/purine nucleoside co-transporter;solute carrier family 28 (sodium-coupled nucleoside transporter), member 2;solute carrier family 28 member 2;solute carrier family 28, member 2 APPROVED protein-coding HGNC:11002 07069 606208 VALIDATED 731872 SLC28A3 solute carrier family 28 (concentrative nucleoside transporter), member 3 Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008] 9 9 9 q22.2 57464095 57554419 - 86890765 86983413 - 84275850 84368498 - 1580863;6480464;8554872 11032837;12477932;14504928;14702039;15738947;15861042;15870078;16271041;16344560;16446384;17409283;17412768;17453413;17696452;17926640;17993510;18199742;18621735;18827020;19074885;19297449;19318496;19380585;19380587;20028759;20172853;20339536;20379614;20495821;20643903;21346688;21822668;23192594;23195617;23251661;23441093;23918034;24300978;24361227 64078 Q9HAS3 AA643687;ABBA01034018;ABBA01034019;ABBA01034020;AF305210;AK022042;AK292849;AK304406;AK310861;AK314039;AL353787;AL356134;AMYH02021132;AMYH02021133;BC093821;BC093823;CH471089;DB218604;DB237216;NM_001199633;NM_022127;NR_037638 AAG22551;AAH93821;AAH93823;BAF85538;BAG36748;BAG65240;EAW62686;NP_001186562;NP_071410;Q9HAS3 Hs.535966 1652142;1766559 G17301;SHGC-149871 CNT 3;CNT3;hCNT3 OTTHUMP00000021567;concentrative Na(+)-nucleoside cotransporter 3;concentrative Na+-nucleoside cotransporter;solute carrier family 28 (sodium-coupled nucleoside transporter), member 3;solute carrier family 28 member 3 APPROVED protein-coding ENSG00000197506 HGNC:16484 12200 608269 VALIDATED 733577 SLC29A2 solute carrier family 29 (equilibrative nucleoside transporter), member 2 The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008] 11 11 11 q13 63450188 63459489 - 66129992 66139961 - 66362521 66372265 - 1580863;6480464 12006583;12411296;12477932;12527552;12590919;12820662;12838422;14612157;14702039;15386342;15489334;15644498;15649894;16214850;16924660;17921321;17926640;18635603;18703227;18945750;19105964;19297449;20392501;21156465;21822668;21906983;21926972;21963094;21987572;23590299;23639800;7639753;9192854;9396714;9478986 3177 G5E943;Q14542;Q96FB2 ABBA01024082;AF029358;AF034102;AF401235;AK057041;AMYH02024976;AP001107;BC011387;BC093634;BC143335;CB243770;CH471076;DB124589;DB155519;NM_001300868;NM_001300869;NM_001532;NR_125343;X86681;XM_006718523;XM_006718524;XM_006718525;XM_006718526;XM_006718527;XM_006718528;XR_428912 AAB97834;AAC39526;AAH11387;AAH93634;AAK92533;BAG51849;CAA60380;EAW74519;EAW74520;EAW74521;EAW74522;NP_001287797;NP_001287798;NP_001523;Q14542;XP_006718586;XP_006718587;XP_006718588;XP_006718589;XP_006718590;XP_006718591 Hs.569017;Hs.736345 2139608;2161809 RH79174;STS-X86681 DER12;ENT2;HNP36 36 kDa nucleolar protein HNP36;OTTHUMP00000240013;OTTHUMP00000240014;OTTHUMP00000240015;OTTHUMP00000240016;OTTHUMP00000240018;delayed-early response protein 12;equilibrative NBMPR-insensitive nucleoside transporter;equilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporter;equilibrative nucleoside transporter 2;hydrophobic nucleolar protein, 36 kDa;hydrophobic nucleolar protein, 36kD;nucleoside transporter, ei-type;solute carrier family 29 (nucleoside transporters), member 2;solute carrier family 29 member 2;solute carrier family 29, member 2 APPROVED protein-coding ENSG00000174669 HGNC:11004 03662 602110 VALIDATED 5688829 SLC29A4P1 solute carrier family 29 (nucleoside transporters), member 4 pseudogene 1 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin 7 7 p11.2 57081992 57087978 - 57014285 57020271 - 6480464 402509 AC069152;AC122133;AMYH02015844;NG_022537 pseudo HGNC:43783 INFERRED 6480185 SLC29A4P2 solute carrier family 29 (nucleoside transporters), member 4 pseudogene 2 7 7 q11.21 63016976 63022966 + 63556598 63562588 + 100132308 AC006015;AC006457;NG_022561 pseudo HGNC:43782 INFERRED 1321510 SLC29A4 solute carrier family 29 (equilibrative nucleoside transporter), member 4 This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 7 7 7 p22.1 5287760 5304022 + 5322561 5343704 + 5274464 5304073 + 1580863;6480464;7794727 22722338 12477932;12838422;14702039;15448143;16099839;16873718;17018840;17121826;17393420;18523561;19357181;20392501;20858707;21822668;22562044;24471494;8889548 222962 C9IYM7;C9JZA2;Q7RTT9 ABBA01039449;AC093376;AK075422;AK092242;AK296278;AL515106;AMYH02015136;AY485959;BC025325;BC047592;BK000627;BM069878;BU740709;CH471144;H07897;NM_001040661;NM_001300847;NM_153247;XM_005249657;XM_005249658;XM_006715667;XM_006715668 AAH25325;AAH47592;AAS65965;BAC03836;BAC11612;BAG58987;DAA00308;EAW87329;EAW87330;NP_001035751;NP_001287776;NP_694979;Q7RTT9;XP_005249714;XP_005249715;XP_006715730;XP_006715731 Hs.4302 2153973;5114316;5115165;7187850 D7S2126E;D7S541E;T15458 ENT4;FLJ34923;PMAT;hENT4 OTTHUMP00000025415;OTTHUMP00000200583;OTTHUMP00000200584;equilibrative nucleoside transporter 4;plasma membrane monoamine transporter;solute carrier family 29 (nucleoside transporters), member 4;solute carrier family 29 member 4 APPROVED protein-coding ENSG00000164638 HGNC:23097 15362 609149 REVIEWED 1351725 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010] 10 10 10 q22.1 66361811 66405947 + 73079010 73123147 + 71319253 71363390 + 1302477;1580863;6480464;7240710;8554872;8699517 11396612 12384580;12477932;12975309;14702039;15489334;15701636;16385451;17897319;18940313;19164483;19336477;19581757;19889517;20140240;20199539;20392501;20595384;20677642;22238637;22653152;22875837;22951725;22989030;23251661;23273568;23406517 55315 Q9BZD2 ABBA01019638;ABBA01019639;AF326987;AK002022;AK304503;AK314497;AK316152;AL359183;AL359384;AMYH02023297;AX775915;AX775917;AX775919;AX775921;AY288928;AY358686;BC000223;BC041575;BC050589;BC063019;BC120996;BC120997;BK000392;CH471083;CQ834384;DC319920;NG_017066;NM_001174098;NM_018344;NR_033413;NR_033414;XM_006717910 AAH00223;AAH41575;AAI20997;AAI20998;AAK00958;AAP41133;AAQ89049;BAA92041;BAG37097;BAG65311;BAH14523;CAE11657;CAE11658;CAE11659;CAE11660;CAH05407;DAA00364;EAW54423;EAW54424;EAW54425;NP_001167569;NP_060814;Q9BZD2;XP_006717973 Hs.438419 1668756;1762863;1763663;1764467;1765553 SHGC-146629;SHGC-147348;SHGC-148072;SHGC-149021;WI-17123 ENT3;FLJ11160;HCLAP;HJCD;PHID OTTHUMP00000019773;equilibrative nucleoside transporter 3;solute carrier family 29 (nucleoside transporters), member 3 APPROVED protein-coding ENSG00000198246 HGNC:23096 11570 602782;612373 REVIEWED 1316551 SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010] 9 9 9 q34.11 101753743 101774653 + 131102839 131123749 + 128340560 128361470 + 1625640;1625638;6480464;7240710;8554872 15168018;16248953 10518211;12477932;14702039;14715877;14985385;15164053;15489334;17353931;17901542;19631310;19946888;20416077;20424473;20562859;20815031;20965718;21139048;21906983;21987572;21988832;22028793;22190034;22235293;23271751;23290633;24120574;24503477;24816145;8358434;9115920;9671728;9878842 10999 Q6P1M0 AA350218;ABBA01043877;AF055899;AI478495;AK000722;AK027504;AK074831;AK290222;AK314681;AL359091;AMYH02021712;BC004268;BC009959;BC065003;CH471090;H16504;NG_017057;NM_005094 AAD11623;AAH04268;AAH09959;AAH65003;BAF82911;BAG51333;BAG52010;EAW87779;EAW87780;NP_005085;Q6P1M0 Hs.656699 1335180;1796826;2139127;2139129;2143829;2176733;2220634 A005S23;D9S778;G17286;G20461;SLC27A4_834;UniSTS:486843;WI-13928 ACSVL4;FATP4;IPS OTTHUMP00000022264;long-chain fatty acid transport protein 4 APPROVED protein-coding ENSG00000167114 HGNC:10998 09172 604194;608649 REVIEWED 6770546 SLC2A1-AS1 SLC2A1 antisense RNA 1 1 1 1 p34.2 41706812 41731116 + 43424720 43449029 + 42959049 42983358 + 14702039 440584 ABBA01050968;AC099795;AI025943;AK056786;AMYH02000889;BU657382;HG491956;NR_033967 Hs.260928 2143124;2186221;5037552 D19S1065;D1S2553;D8S2279 RP5-848E13.3 APPROVED ncrna ENSG00000227533 HGNC:44187 VALIDATED 1315233 SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009] 20 20 20 q13.1 42049759 42076462 + 45338279 45364986 + 46709640 46736347 + 1580863;6480464;7240710;8554872;8699517 11247674;11592815;11780052;12477932;12554125;12890477;12941788;14702039;15489334;15679832;15936967;15975113;16051383;16336637;16550171;16586067;18565096;18774132;18818946;19913121;20379614;20628086;20735855;21890473;22001912 81031 O95528;Q8TDC7 ABBA01052683;AF248053;AF321240;AF479407;AK055548;AK290961;AK315269;AL031055;AL137188;AMYH02037162;BC101657;BC113423;CH471077;NG_016284;NM_030777;XM_006723879;XM_006723880;XR_430314 AAI01658;AAI13424;AAK26294;AAK31911;AAL87106;ADR83042;BAF83650;BAG37684;BAG51534;CAB69822;EAW75724;NP_110404;O95528;XP_006723942;XP_006723943 Hs.305971 1336023;1336375;1675216;1770462;1798196;1851125;2141717;2161691;5022200 D20S885;D20S893;L18426;RH66093;SGC44522;SHGC-44522;SLC2A10_1831;STS-N36110;Z94364 ATS;GLUT10;MGC126706 GLUT-10;OTTHUMP00000031212;glucose transporter type 10;solute carrier family 2, facilitated glucose transporter member 10 APPROVED protein-coding ENSG00000197496 HGNC:13444 05851 208050;606145 REVIEWED 1320922 SLC2A12 solute carrier family 2 (facilitated glucose transporter), member 12 SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008] 6 6 6 q23.2 135049799 135114783 - 134308719 134373789 - 133987581 134052668 - 1580863;6480464;8554872 11780753;11832379;12477932;12583599;12890477;12914765;14702039;16091581;16344560;16803853;18978678;19549745;20734064;20965718;21890473;23000965;23302780;23396969;23443559 154091 Q8TD20 ABBA01025866;AK056554;AK122628;AK226098;AL035699;AL449363;AL833602;AMYH02014522;AY046419;BC070149;BX648889;CH471051;DB253903;NM_145176;XM_006715349 AAH70149;AAL02327;BAB71214;BAG53629;EAW47994;NP_660159;Q8TD20;XP_006715412 Hs.486508 1762355;2116219;2153920;2185919 RH46699;SHGC-146189;STS-N20817;WI-14629 GLUT12;GLUT8 GLUT-12;OTTHUMP00000017245;glucose transporter type 12;solute carrier family 2, facilitated glucose transporter member 12 APPROVED protein-coding HGNC:18067 11572 610372 VALIDATED 1354509 SLC2A11 solute carrier family 2 (facilitated glucose transporter), member 11 This gene belongs to a family of proteins that mediate the transport of sugars across the cell membrane. The encoded protein transports glucose and fructose. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 22 22 22 q11.23 8036832 8065494 + 24199059 24227738 + 23856703 23886112 + 1580863;6480464;8554872 11583593;11741323;12175779;12477932;14702039;14704796;15461802;16154905;16303743;16344560;17710649;19423540;20406964;20438785;22452979;24250222 66035 B5MCM1;B5MCM7;B7Z6F0;F8WB79;F8WBG9;F8WBK0;F8WCV3;F8WFA8;Q504W2;Q6PJ99;Q9BYW1 AA888149;AB049214;AB067442;AB067443;AB067444;AB209301;ABBA01055124;AF443201;AF479409;AJ271290;AK055523;AK075467;AK092466;AK296169;AK300196;AK304409;AK308589;AK308602;AK314502;AK315937;AK316049;AMYH02038137;AMYH02038138;AP000350;BC018967;BC063525;BC094735;BC100807;BC100808;BC100809;BC100810;CH471095;CR456373;CS051291;DA084206;DC303452;NM_001024938;NM_001024939;NM_001282864;NM_030807;NR_104247;NR_104248 AAH18967;AAH63525;AAH94735;AAI00808;AAI00809;AAI00810;AAI00811;AAL39061;AAL87108;BAB68410;BAB83504;BAB83505;BAB83506;BAC11637;BAD92538;BAG37102;BAG58907;BAG65242;BAH13236;BAH14308;BAH14420;CAC29020;CAG30259;CAI72140;CAK54509;CAK54808;EAW59613;EAW59614;EAW59615;EAW59616;EAW59617;EAW59618;NP_001020109;NP_001020110;NP_001269793;NP_110434;Q9BYW1 Hs.661910;Hs.743282 1671464;1687978;5015961;5016478;5037552 D15S1477;D8S2279;G27734;GDB:434012;RH93042 GLUT10;GLUT11;MGC118830;MGC118833;SLC2A11-a;SLC2A11-c GLUT-10;GLUT-11;OTTHUMP00000198421;OTTHUMP00000198422;OTTHUMP00000198472;facilitative glucose transporter GLUT11;glucose transporter protein 10;glucose transporter protein 11;glucose transporter type 10;glucose transporter type 11;glucose transporter-like protein XI;solute carrier family 2, facilitated glucose transporter member 11 APPROVED protein-coding ENSG00000133460 HGNC:14239 11571 610367 REVIEWED 737565 SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1 This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 45740406 45755032 + 44187242 44201888 + 44219505 44234151 + 1580863;2316942;2316941;6480464;8554872 15829178;16873415 10755314;11584005;11814344;12006583;12008078;12097333;12384580;12389626;12477932;12527552;12820662;14607828;14667819;14702039;14759222;15489334;15529184;15557207;15632314;15649894;15933265;16333246;16344560;16595656;16609362;16688763;16818266;16818276;16858130;17162590;17409283;17658213;17921321;17926640;18064606;18187485;18462193;18600541;18635603;18703227;19116148;19164463;19193655;19222701;19297449;19318496;19349719;19428333;19801629;19853583;19874574;19913121;19946888;20028759;20032083;20113503;20185188;20392501;20453000;20608756;20628086;20665488;20720035;20734919;20812847;20814156;20839414;20883780;21139048;21264835;21283641;21336182;21395582;21455275;21645551;21678404;21795683;21822668;21890473;21898089;21906983;21963094;21987572;22053931;22212648;22314683;22349506;22505724;22644860;22705007;22837314;22985987;23000965;23095574;23492684;23590299;23639800;23703920;23846918;24152955;24280569;24361227;24475233;24857044;25015289;8889548;8986748;9344680;9396714 2030 Q99808 AB490708;AB490709;ABBA01050643;AF079117;AF190884;AF495730;AK090491;AK090615;AK293558;AK304285;AL139392;AMYH02013657;AX775997;BC001382;BC008954;BC095398;BM661584;CB996332;CH471081;DA559201;DA680982;DC396448;NM_001078174;NM_001078175;NM_001078176;NM_001078177;NM_004955;U81375;XM_005248875;XM_005248876;XM_005248878;XM_005248879;XM_005248880;XM_005248881;XM_005248882 AAC51103;AAC62495;AAF02777;AAH01382;AAH08954;AAM11785;ABM83059;ABM86253;BAG52169;BAG52197;BAH11534;BAH14150;BAI39492;BAI39493;CAE11698;EAX04254;EAX04255;EAX04256;NP_001071642;NP_001071643;NP_001071644;NP_001071645;NP_004946;Q99808;XP_005248932;XP_005248933;XP_005248935;XP_005248936;XP_005248937;XP_005248938;XP_005248939 Hs.25450 1651036;1762405;1796828;2183255 RH36576;RH67942;SHGC-146237;SLC29A1_838 ENT1;MGC1465;MGC3778 OTTHUMP00000016506;OTTHUMP00000016507;OTTHUMP00000016508;OTTHUMP00000016509;OTTHUMP00000016510;OTTHUMP00000016511;OTTHUMP00000016512;equilibrative NBMPR-sensitive nucleoside transporter;equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporter;equilibrative nitrobenzylmercaptopurine riboside-sensitive nucleoside transporter;equilibrative nucleoside transporter 1;nucleoside transporter, es-type;solute carrier family 29 (nucleoside transporters), member 1;solute carrier family 29 member 1;solute carrier family 29, member 1 APPROVED protein-coding ENSG00000112759 HGNC:11003 03724 602193 REVIEWED 1343832 SLC2A3P1 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 1 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; paracetamol 5 5 5 q34 164014847 164016006 - 167979499 167980658 - 168552494 168553653 - 6480464 11882521;1695905 100128062 ABBA01044122;AC020894;AMYH02012700;NG_008263 1676316;1777882;1854298;2153634;2170900 RH68356;RH69142;RH93527;UniSTS:14879;WI-15765 GLUT3P1;GLUT6;SLC2A3P pseudo HGNC:11008 INFERRED 1354392 SLC2A3P2 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 2 1 1 1 p31.3 63739380 63742692 - 65448465 65451791 - 64982782 64986108 - 11882521 391045 ABBA01074552;AC025866;AL606517;AMYH02001174;NG_005841 pseudo HGNC:31074 INFERRED 730861 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 3 q26.1-q26.2 169114036 169144639 - 170714137 170744768 - 170996348 171026979 - 1624252;1624253;1580863;2312359;1626159;2312358;2312360;2311061;2324977;2324976;2324975;6480464;6484113;6907045;7240710;8554872;8699517 12114701;15449578;17235524;17636114;18774732;19252908;19433262;8027028;8421107;9354798 10697967;10987651;11044475;11247674;11344224;11592815;11810292;11978637;11988093;12017192;12477932;13480676;14551916;14614558;15009676;15889141;15983230;17065357;17141226;17192490;17204838;18220613;18239936;18349384;1852621;1862003;19223655;19269875;19303158;19554504;19913121;20066028;20081858;20142250;20201351;20419449;20424473;20564476;20628086;20800603;21832049;21852673;21920790;21943636;22001757;22145468;22214819;22221271;22350464;22581228;22660720;22865906;22993150;23010768;23185617;23257979;23341889;23396969;23986439;24236070;24824030;3399500;7593639;8063045;8482435;8626492;8923459;9266402;9686354 6514 C9J0E8;F8WBJ2;P11168;Q6PAU8 ABBA01058669;AC061708;AC092918;AK290846;AK292741;AK298418;AK313622;AMYH02008129;BC060041;CH471052;HC890011;HC901936;J03810;L09674;NG_008108;NM_000340;NM_001278658;NM_001278659 AAA59514;AAH60041;BAF83535;BAF85430;BAG36383;BAH12783;CBN59495;CBN65426;EAW78498;EAW78499;EAW78500;NP_000331;NP_001265587;NP_001265588;P11168 Hs.167584 1644887;1741343;1741435;1741997;1774905;1777476;1796832;2110899;2151684;2159224;2185639;2186513;2190811;5090920 D3S1355E;D3S3881;GDB:180741;GDB:181209;GDB:188623;RH68967;RH69731;RH70213;SHGC-77533;SHGC-77535;SLC2A2;SLC2A2_841;STS-H60870;WI-11773 GLUT-2;GLUT2 OTTHUMP00000213823;glucose transporter type 2, liver;solute carrier family 2, facilitated glucose transporter member 2 1643508 BW262_H APPROVED protein-coding ENSG00000163581 HGNC:11006 00685 138160;227810 REVIEWED 1345033 SLC2A3P3 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3 11882521 399494 AC006517 HGNC:31075 1347307 SLC2A14 solute carrier family 2 (facilitated glucose transporter), member 14 Members of the glucose transporter (GLUT) family, including SLC2A14, are highly conserved integral membrane proteins that transport hexoses such as glucose and fructose into all mammalian cells. GLUTs show tissue and cell-type specific expression (Wu and Freeze, 2002 [PubMed 12504846]).[supplied by OMIM, Mar 2008] 12 12 12 p13.31 9544472 9594140 - 7965110 8043792 - 7812512 7891196 - 1580863;6480464;8554872 11882521;12477932;12504846;15489334;16344560;18029348;21139048;21963094;22421804;22939629 144195 F5GXP7;F5GXP8;F5GXT4;F5H076;F5H3J0;F5H565;F5H5Q3;F5H5V7;F5H6F6;F5H7N2;Q8TDB8 ABBA01012211;ABBA01012212;ABBA01012213;ABBA01012214;ABBA01012215;ABBA01012216;ABBA01012217;ABBA01012218;ABBA01012219;ABBA01012220;AC006517;AC007536;AC124891;AF481878;AF481879;AK122783;AK126026;AK299037;AK302881;AK316238;AL110298;AL832448;AMYH02025977;AMYH02025978;AMYH02025979;AMYH02025980;AY357941;BC060766;BG717327;CH471116;DA723309;DB061127;DB062960;DB069339;DB082816;HC897940;NM_001286233;NM_001286234;NM_001286235;NM_001286236;NM_001286237;NM_153449;XM_005253315;XM_005253317 AAH60766;AAL89709;AAL89710;AAQ63763;BAG53727;BAG54279;BAH12934;BAH13830;BAH14609;CAB53739;CBN63379;EAW88652;EAW88653;NP_001273162;NP_001273163;NP_001273164;NP_001273165;NP_001273166;NP_703150;Q8TDB8;XP_005253372;XP_005253374 Hs.655169;Hs.739527 1338493;1658350;1772960;1784446;2114211;2123588;5016967;5122173 G10588;RH65076;RH68461;RH78158;SHGC-154853;SHGC-30912;SHGC-31620;WI-20968 DKFZp564K1672;GLUT14;SLC2A3P3 GLUT-14;OTTHUMP00000238843;OTTHUMP00000238844;OTTHUMP00000238878;OTTHUMP00000238879;OTTHUMP00000238881;OTTHUMP00000238882;glucose transporter 14;glucose transporter type 14;solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3;solute carrier family 2, facilitated glucose transporter member 14 APPROVED protein-coding ENSG00000173262 HGNC:18301 11573 611039 VALIDATED 1347560 SLC2A3P4 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 4 8 8 8 q21.3 83710219 83713750 + 87515645 87519176 + 86503416 86506947 + 399495 ABBA01037362;AC103817;AMYH02018362;NG_009577 1756391 SHGC-143357 pseudo HGNC:31076 INFERRED 1343076 SLC2A4RG SLC2A4 regulator The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 59055481 59059673 + 62371211 62375403 + 63739858 63744050 + 1580863;6480464 10825161;11752456;11780052;12477932;14625278;14630949;15489334;16368714;18216015;18249389;21102463;21297633;23128233;23535732;8889548 56731 Q9NR83 AB044777;AB044786;AB052777;ABBA01021419;AF249267;AK298304;AL121845;AMYH02037469;AV659783;BC001402;BC017446;BC028349;BC052306;BM983611;CH471077;NM_020062 AAF97516;AAH01402;AAH17446;AAH28349;AAH52306;BAD29732;BAD29733;BAE71373;BAG60558;EAW75210;EAW75211;EAW75212;NP_064446;Q9NR83 Hs.435126 1683411;1687716 RH71178;RH98655 GEF;HDBP-1;HDBP1;Si-1-2;Si-1-2-19 GLUT4 enhancer factor;Huntington's disease gene regulatory region-binding protein 1;OTTHUMP00000031591;huntington disease gene regulatory region-binding protein 1 APPROVED protein-coding HGNC:15930 15364 609493 REVIEWED 1319599 SLC2A6 solute carrier family 2 (facilitated glucose transporter), member 6 Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002] 9 9 9 q34 106886840 106894900 - 136336216 136344276 - 133471094 133479154 - 1580863;6480464;8554872 10970791;12477932;12554125;14702039;15164053;15489334;16303743;17997608;19554504;20413573;20734064;21139048;8125298 11182 F2Z2F6;F2Z3K7;Q9UGQ3 AB209108;ABBA01032457;AJ011372;AK074836;AK074927;AK096630;AK222919;AK225106;AK294974;AL593848;AMYH02021832;BC013740;CA306069;CH471090;CQ782786;CQ782893;DC305025;NM_001145099;NM_017585;XR_428513;Y17803 AAH13740;ABM82439;ABM85630;BAC11235;BAC11297;BAD92345;BAD96639;BAG58046;CAB66155;CAB96996;CAF86016;CAF86119;EAW88092;EAW88093;EAW88094;NP_001138571;NP_060055;Q9UGQ3 Hs.244378 5015619 D11S3114 GLUT-6;GLUT-9;GLUT6;GLUT9;HSA011372 OTTHUMP00000022489;OTTHUMP00000022490;glucose transporter type 6;glucose transporter type 9;solute carrier family 2, facilitated glucose transporter member 6 APPROVED protein-coding ENSG00000160326 HGNC:11011 06010 606813 VALIDATED 731478 SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008] 17 17 17 p13 7209701 7216014 + 7184986 7191367 + 7281735 7288048 + 1625188;1580863;1626159;1625539;2313624;2302393;2306268;2302395;2302397;2313621;2313622;2313625;2303167;6480464;6484113;6907045;7240710;8554872 15449578;15466941;17629673;17717074;18570632;18653321;18778861;19043358;1918382;19252289;2211693;8013658 10068455;10606624;10655495;11003568;11217863;11500317;11742412;11842083;11994746;12064911;12079888;12145475;12467732;12477932;12556481;12565902;12583599;12606502;12631717;12700047;12716391;12716734;1397719;14562105;14630949;14747278;15166000;15182197;15184360;1521731;15247266;15292352;15334390;15480742;15489334;15528266;15731326;15864539;15992544;1601840;16096283;16213228;16396496;16497797;16497805;16647043;16763099;16787385;16803853;16966355;17003346;17035674;17164432;17220298;17382906;17448565;17496362;1756912;17611657;18056982;18067156;18184930;18249389;18299470;18635880;18660489;18676680;18713752;18769028;19035854;19170196;19188436;19219452;19251038;19286271;19321702;19328476;19375584;19389739;19478182;19549745;19554504;19590752;19625176;19648108;19692168;19885647;19913121;19948975;19955252;20103707;20173759;20352120;20363751;20406953;20417083;20501875;20625434;20628086;20854370;20965718;21147915;21187969;21454505;21454690;21454697;21468601;21547502;21604201;21606541;21645024;21668369;21757715;21796809;21883150;21986508;22114711;22286219;22297303;22384078;22403297;22452979;22488520;22496345;22663547;22673408;22971162;22992739;23072821;23202124;23239154;23424197;23546602;23746177;23800880;24216110;24402435;24410986;24533495;24636949;2568955;2649253;2656669;7916714;8300557;9388492 6517 F5H081;I3L1S2;I3L2R4;P14672 ABBA01054857;AC003688;AK300899;AK313372;AL521328;AMYH02032896;BC034387;BC069615;BC069621;BC113592;BC126164;BQ775137;CF594356;CH471108;M20747;M91463;NG_012127;NM_001042;X58489 AAA52569;AAA59189;AAH34387;AAH69615;AAH69621;AAI13593;AAI26165;ADR83021;BAG36171;BAG62537;CAA41399;EAW90226;EAW90227;NP_001033;P14672 Hs.380691 1657358;1683675;1741193;1741269;1798198 GDB:178568;GDB:180271;RH69198;RH76256;SLC2A4_1783 GLUT-4;GLUT4 OTTHUMP00000128376;glucose transporter type 4, insulin-responsive;insulin-responsive glucose transporter type 4;solute carrier family 2 , member 4;solute carrier family 2, facilitated glucose transporter member 4 APPROVED protein-coding ENSG00000181856 HGNC:11009 00688 125853;138190 REVIEWED 1344587 SLC2A7 solute carrier family 2 (facilitated glucose transporter), member 7 SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008] 1 1 1 p36.2 8172056 8195080 - 9063359 9086404 - 9003300 9026345 - 6480464;8554872 11780753;15033637;16186102 155184 Q6PXP3 ABBA01035533;AL158048;AMYH02000229;AY571960;CH471130;NM_207420 AAI52831;AAS78590;EAW71607;EAW71608;NP_997303;Q6PXP3 Hs.531239 1732828 D1S1273 GLUT-7;GLUT7 OTTHUMP00000159095;glucose transporter type 7;intestinal facilitative glucose transporter 7;solute carrier family 2, facilitated glucose transporter member 7 APPROVED protein-coding ENSG00000197241 HGNC:13445 15365 610371 PROVISIONAL 68456 SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 ENCODES a protein that exhibits fructose transmembrane transporter activity (inferred); glucose transmembrane transporter activity (inferred); INVOLVED IN cellular response to fructose stimulus (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; apical plasma membrane (ortholog); INTERACTS WITH (-)-demecolcine; 3',5'-cyclic AMP; aflatoxin B1 1 1 1 p36.2 8205681 8257881 - 9097005 9131763 - 9036946 9071704 - 1580863;6480464;8554872 11247674;11840567;12477932;12554125;12820898;14757434;15489334;1550217;1634504;16803853;1695905;17251278;17577579;18424253;18439419;19056867;19091748;19913121;20043883;20379614;20628086;20965718;21165569;21938742;21988832;23084044;23341889;23910014;8037665;9691177 6518 B4DT82;B4DU31;K7EIT1;K7EJR1;K7EJZ0;K7EQI3;P22732 ABBA01035533;ABBA01035534;ABBA01035535;AF451839;AF479408;AK289849;AK290398;AK294368;AK295785;AK300091;AK300477;AK302047;AK302057;AK302137;AL158048;AMYH02000229;AMYH02000230;AMYH02000231;BC001692;BC001820;BC035878;CA309754;CH471130;DC379829;M55531;NM_001135585;NM_003039;U05344;U11843;XM_005263491;XM_006710836 AAA52570;AAB60641;AAH01692;AAH01820;AAH35878;AAL87107;ABM83217;ABM86417;BAF82538;BAF83087;BAG57630;BAG58606;BAG61894;BAG62193;BAG63439;BAG63447;BAG63511;EAW71610;NP_001129057;NP_003030;P22732;XP_005263548;XP_006710899 Hs.530003 1673401;1678759;1712068;1732798;2121847;2121960;2124535;2127261;2151487;7184424 D1S1254;D1S274E;G54082;RH64477;RH69141;RH70560;RH80220;SHGC-74165;SHGC-74178 GLUT-5;GLUT5 OTTHUMP00000001704;OTTHUMP00000001705;fructose transporter;glucose transporter type 5, small intestine;glucose transporter-like protein 5;solute carrier family 2 (facilitated glucose transporter), member 5;solute carrier family 2, facilitated glucose transporter member 5;solute carrier family 2, member 5 protein-coding HGNC:11010 00690 138230 VALIDATED 1352870 SLC2AXP1 solute carrier family 2 (facilitated glucose transporter), pseudogene 1 2 2 2 q11.1 90213289 90214178 - 95862243 95863132 - 95196495 95197384 - 11882521 399496 ABBA01003571;AC026626;AC092835;AMYH02004298;NG_011411 pseudo HGNC:31077 INFERRED 731339 SLC30A1 solute carrier family 30 (zinc transporter), member 1 ENCODES a protein that exhibits calcium channel inhibitor activity (ortholog); INVOLVED IN cadmium ion transmembrane transport (ortholog); cellular calcium ion homeostasis (ortholog); cellular zinc ion homeostasis (ortholog); FOUND IN cytoplasm; endoplasmic reticulum; Golgi apparatus; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17alpha-ethynylestradiol 1 1 1 q32.3 184975478 184979196 - 211748381 211752099 - 211575039 211578757 - 1580863;6480464 12477932;14662799;15276077;15451416;16179263;17349999;17786585;17971132;17971500;18029348;18158319;18639746;18676680;18781797;19170196;19371353;19625176;19692168;19767393;19900532;20201890;20471814;21053094;21103883;21139048;21347282;21462106;21906983;21963094;21987572;22349685;22572848;22939629;23839533 7779 Q96KD7;Q9Y6M5 AA853540;AB451467;ABBA01048189;AC105275;AF048701;AF323590;AF364518;AI467909;AI621266;AMYH02002626;AW183618;BC121015;BC121016;BE744293;BF057194;CB990012;CF529684;CH471100;NM_021194 AAD29840;AAG53405;AAI21016;AAI21017;AAK50854;BAG70281;EAW93412;NP_067017;Q9Y6M5 Hs.519469 1697128;2191371;2217996 MARC_17913-17914:1025020546:1;RH102049;SLC30A1_3894 ZNT1;ZRC1;znT-1 OTTHUMP00000035052;OTTHUMP00000042570;solute carrier family 30 member 1;zinc transporter 1 protein-coding HGNC:11012 15366 609521 VALIDATED 1604615 SLC30A10 solute carrier family 30, member 10 This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012] 1 1 1 q41 193307088 193321437 - 220087606 220101993 - 219913919 219958910 - 6480464;8699517;7240710;8554872 12477932;14702039;15154973;19064571;20301334;22341971;22341972;22706290;22934317;23357421;23369405;23741496;23754948 55532 B3KR19;Q6XR72 ABBA01048087;ABBA01048088;AC093562;AC103590;AK090806;AL359609;AL360008;AMYH02002728;AMYH02002729;AY212919;BC036078;BG564297;CB999545;CH471100;KF455147;NG_032153;NM_018713;NR_046437;XM_006711437;XM_006711438;XM_006711439 AAH36078;AAI46292;AAP44332;BAG52231;CAB94880;EAW93312;EAW93313;EAW93314;NP_061183;Q6XR72;XP_006711500;XP_006711501;XP_006711502 Hs.284450 2122860;2127949;2135445;2155715 AL010044;D1S1880E;RH11881;SHGC-76385 DKFZp547M236;HMDPC;ZNT10;ZNT8;ZRC1;ZnT-10 OTTHUMP00000216728;solute carrier family 30 (zinc transporter), member 10;zinc transporter 10;zinc transporter 8 APPROVED protein-coding HGNC:25355 15367 611146;613280 REVIEWED 1351405 SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 10310714 10524222 - 9827848 10041872 - 9779807 10040248 - 1580863;6480464;7240710;8554872;8699517 10860667;10970791;11739520;11991658;12477932;12554125;14702039;14739288;15203218;15489334;17710649;17997608;18172662;18177733;18179892;18327256;18327257;18398472;18487473;18606621;18701466;18759275;18834626;18842065;19026395;19260141;19503597;19593129;19679263;19723617;19797240;19808778;19833602;19877038;19890391;19926891;20053405;20139978;20162742;20162743;20162744;20162745;20197412;20379614;20413573;20472486;20588307;20589538;20714133;20800603;20884846;20926839;20972595;21186168;21256783;21294900;21511506;21536615;21584282;21658257;21810765;21886157;21983786;22005930;22132964;22132990;22212408;22229870;22393348;22420403;22527535;22566634;22647630;22753387;22797727;23263486;23272134;23302780;23349133;23361362;23703922;24107611;24204615;24379826;24397858;24409316 56606 D6REK5;Q9NRM0 ABBA01032505;ABBA01032506;ABBA01032507;ABBA01032508;ABBA01032509;ABBA01032510;ABBA01032511;AC005674;AC098976;AC108199;AF210317;AF421859;AK096819;AK310895;AL572022;AMYH02008743;AMYH02008744;BC018897;BC110414;BI821650;CD629819;CD629822;CH471069;NG_011540;NM_001001290;NM_020041;XM_006713968;XM_006713969 AAF85942;AAH18897;AAI10415;AAL16939;AAY41052;ABM82868;ABM86055;EAW92681;EAW92682;EAW92683;NP_001001290;NP_064425;Q9NRM0;XP_006714031;XP_006714032 Hs.656895 1647561;1666312;1672402;1765271;1765273;1769030;1769563;1777270;1785044;1850973;2110229;2110231;2117589;2133589;2133654;2147266;2147825;2148987;2158309;2178360;2189073;2189075;2189077;2189117;2189233;2217994 D4S1251;D4S1268;D4S1365;D4S317;D4S615;D4S634;G33346;G41975;G65145;G65164;G65185;G65186;G65187;L18084;RH36271;SHGC-148773;SHGC-148774;SHGC-154066;SHGC-25155;SHGC-50921;SHGC-51391;SHGC-51591;SHGC-59716;SLC2A9_2838;stb751l19.p1;stbA448G15.ca2 GLUT-9;GLUT9;GLUTX;UAQTL2;URATv1 OTTHUMP00000115632;OTTHUMP00000115633;glucose transporter type 9;human glucose transporter-like protein-9;solute carrier family 2, facilitated glucose transporter member 9;urate voltage-driven efflux transporter 1 APPROVED protein-coding ENSG00000109667 HGNC:13446 05848 606142;612076 REVIEWED 737055 SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 ENCODES a protein that exhibits glucose transmembrane transporter activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN carbohydrate metabolic process (inferred); glucose transport (inferred); hexose transport (inferred); PARTICIPATES IN facilitative sugar transporter mediated glucose transport pathway; ASSOCIATED WITH Acanthosis Nigricans; Alzheimer Disease; Diabetes Mellitus; FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 1,4-phenylenediamine 12 12 12 p13.3 9649416 9666481 - 8071824 8088895 - 7919228 7936296 - 1580863;1626159;1625539;1642802;1642812;2313602;2313618;730192;2313619;2313620;2313601;2313617;6480464 10086067;11436180;11738800;12882795;15449578;15466941;17935675;19110659;19781384;7598707;8179300 11991658;12064911;12112827;12397394;12477932;12554125;12583599;1417839;14757434;15123239;15489334;16049004;16125330;16136514;16169070;16303743;1695905;17442736;17559076;17611657;17920708;18029348;18172662;18299470;18401196;18764953;18802725;18976975;19261894;19322201;19536037;19554504;19659459;19681047;19782666;19786962;20308990;20424473;20428049;20468064;20599725;20870738;21890473;21920790;21963094;21987572;22000473;22069254;22113212;22234467;22265971;22270867;22645302;22663547;22706202;22876317;22901689;22901702;23341039;23343953;23720776;23995067;24011442;24124917;24178905;24816145;3170580;7502272;8457197;9253355;9477959 6515 F5GYR5;F5GYX0;P11169 AB209607;ABBA01012224;ABBA01012225;ABBA01012226;AC007536;AF274892;AK074861;AK298673;AK304509;AK312386;AMYH02025982;AY034634;BC039196;CH471116;CR457413;HC007280;HC890017;HC901942;M20681;NM_006931 AAB61083;AAF82116;AAH39196;AAK56796;ABM82044;ABM85223;ABM85225;BAD92844;BAG35303;BAH12843;BAH14202;CAG33694;CBH19445;CBN59498;CBN65429;EAW88644;EAW88645;NP_008862;P11169 Hs.419240 1647062;1658350;1675451;1772960;1796834;2123588;2168063;5014051;5016967;5037552;5106206;5122173 D8S2278;D8S2279;RH48707;RH65076;RH68326;RH68461;RH69095;RH78158;RH80536;SHGC-30912;SHGC-31620;SLC2A3_843 FLJ90380;GLUT-3;GLUT3 OTTHUMP00000165065;glucose transporter type 3, brain;solute carrier family 2, facilitated glucose transporter member 3;solute carrier family 2, member 2 protein-coding ENSG00000059804 HGNC:11007 00686 138170 VALIDATED 1346114 SLC30A3 solute carrier family 30 (zinc transporter), member 3 ENCODES a protein that exhibits cation transmembrane transporter activity (inferred); zinc transporting ATPase activity (inferred); INVOLVED IN regulation of sequestering of zinc ion; FOUND IN cytoplasm; late endosome; neuron projection (ortholog); INTERACTS WITH (+)-catechin; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; atrazine 2 2 2 p23.3 27323767 27332284 - 27477440 27501093 - 27254572 27276146 - 1580863;6480464 12477932;14657250;14662799;15154973;17349999;17971500;18639746;19521526;8962159 7781 C9J1K4;C9JHX4;C9JHZ9;C9JM13;C9JV68;H7BZ83;Q99726 ABBA01045199;AC013413;AK127096;AK127300;AK302174;AK313600;AL043136;AMYH02003473;BC028358;CH471053;NM_003459;U76010;XM_005264547;XM_005264548;XM_005264549;XM_005264551;XM_006712098;XM_006712099;XM_006712100 AAB39732;AAH28358;AAY24294;ABM83041;ABM86236;BAG36366;BAG63540;EAX00610;EAX00611;NP_003450;Q99726;XP_005264604;XP_005264605;XP_005264606;XP_005264608;XP_006712161;XP_006712162;XP_006712163 Hs.467981 1697922;2107601;2134409 RH102490;SLC30A3_7909;STS-U76010 ZNT3;znT-3 OTTHUMP00000158510;OTTHUMP00000201041;solute carrier family 30 member 3;zinc transporter 3;zinc transporter ZnT-3 protein-coding ENSG00000115194 HGNC:11014 11924 602878 VALIDATED 730862 SLC2A8 solute carrier family 2 (facilitated glucose transporter), member 8 This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] 9 9 9 q33.3 100814105 100824801 + 130159417 130170177 + 127397138 127407898 + 70600;1580863;6480464 10671487 10821868;11845330;12477932;12554125;16723738;17897319;18029348;19176349;19554504;20965718;21890473;22452979;23234877;23319000;24519932 29988 H0Y7M6;Q5VVV3;Q5VVV4;Q5VVV5;Q5VVV6;Q5VVV9;Q5VVW0;Q5VVW5;Q8WZ05;Q9NY64 AB209112;ABBA01043832;AF289587;AI818661;AJ245937;AL445222;AMYH02021681;BC019043;BM044230;BX395379;CH471090;HC897950;HY025817;NM_001271711;NM_001271712;NM_014580;NR_073416;XM_005251949;XM_006717084;XM_006717085;Y17801 AAH19043;AAL55771;ABM83835;ABM87159;BAD92349;CAB75702;CAB89809;CBN63384;EAW87660;EAW87661;EAW87662;EAW87663;EAW87664;NP_001258640;NP_001258641;NP_055395;Q9NY64;XP_005252006;XP_006717147;XP_006717148 Hs.179522 1651776;1676117;1687604;2217992 A005N15;RH91499;RH94275;SLC2A8_3313 GLUT-8;GLUT8;GLUTX1 OTTHUMP00000022176;OTTHUMP00000022177;OTTHUMP00000022179;glucose transporter X1;glucose transporter type 8;glucose transporter type X1;solute carrier family 2, facilitated glucose transporter member 8 protein-coding ENSG00000136856 HGNC:13812 05580 605245 REVIEWED 1343503 SLC30A4 solute carrier family 30 (zinc transporter), member 4 Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008] 15 15 15 q21.1 22665835 22706156 - 45774676 45815005 - 45482478 45522807 - 1580863;2299948;2299950;6480464 12955079;18289514 10600821;11511923;11686514;11935329;11988082;12477932;12743795;14968438;15187159;16580781;17349999;17575980;17971500;18639746;18676680;19058789;19371353;19625176;19692168;22254085;22632162;23149075;23368743;24250222;9354792 7782 O14863;Q96JT7 AA485220;ABBA01039179;ABBA01039180;ABBA01039181;ABBA01039182;AC025580;AF025409;AK290874;AMYH02030359;AY029482;BC026089;CH471082;NM_013309;XM_005254656 AAB82561;AAH26089;AAK40257;ABM83047;ABW03348;BAF83563;EAW77316;EAW77317;NP_037441;O14863;XP_005254713 Hs.162989 1705258 SHGC-78120 ZNT4;znT-4 OTTHUMP00000162136;solute carrier family 30 member 4;zinc transporter 4 APPROVED protein-coding HGNC:11015 03651 602095 VALIDATED 1319489 SLC30A6 solute carrier family 30 (zinc transporter), member 6 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A6, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008] 2 2 2 p22.3 32235752 32294001 + 32390910 32449181 + 32165841 32224112 + 1580863;6480464 11997387;12477932;14702039;15154973;16580781;17349999;17971500;18639746;19064571;19371353;19759014;20877624;21890473;21906983;21963094;22349685;24182552 55676 B3KU87;B5MCR8;C9JZR9;F8WCU3;F8WD78;F8WEL5;Q6NXT4 ABBA01074877;ABBA01074878;ABBA01074879;ABBA01074880;ABBA01074881;AF173387;AI401266;AK055663;AK096672;AK127716;AK304225;AL121653;AL121658;AL832755;AMYH02003545;BC032525;BC066903;BG527678;CH471053;DB469378;EF560719;EF560726;NM_001193513;NM_001193514;NM_001193515;NM_017964;XM_006712046;XM_006712047;XM_006712048;XR_426988 AAH32525;AAH66903;AAQ13628;ABQ59029;ABQ59036;ACT64359;ACT64360;ACT64513;ACT64514;BAB70980;BAG53349;BAG54557;BAH14137;EAX00456;EAX00457;EAX00458;EAX00459;EAX00460;NP_001180442;NP_001180443;NP_001180444;NP_060434;Q6NXT4;XP_006712109;XP_006712110;XP_006712111 Hs.23248 1645103;1767761;2148020;2155878;2162581;2217998;5022578;5037552;5092834 A004A17;Cda15g09;D1S1423;D2S2661;D8S2279;G32359;RH65977;SLC30A6_3650;WI-16901 FLJ31101;MGC45055;MST103;MSTP103;ZNT6;znT-6 OTTHUMP00000158572;OTTHUMP00000201174;OTTHUMP00000201177;OTTHUMP00000201178;solute carrier family 30 member 6;zinc transporter 6 APPROVED protein-coding ENSG00000152683 HGNC:19305 15368 611148 VALIDATED 733874 SLC30A2 solute carrier family 30 (zinc transporter), member 2 ENCODES a protein that exhibits cation transmembrane transporter activity (inferred); INVOLVED IN positive regulation of sequestering of zinc ion; ASSOCIATED WITH Abnormality of the intestine (inferred); Abnormality of zinc homeostasis (inferred); Autosomal recessive inheritance (inferred); FOUND IN cytoplasm; late endosome; lysosomal membrane; INTERACTS WITH 17beta-estradiol; fonofos; hydralazine 1 1 1 p35.3 24761192 24769282 - 26364513 26373439 - 26038023 26046113 - 1580863;6480464;8699517;8554872;7240710 12477932;14702039;17065149;17349999;17897319;17971500;19064571;19170196;19496757;21462106;22364884;22733820;24333596;8617223 7780 B3KSN7;Q9BRI3 ABBA01034895;AF370409;AK023491;AK023504;AK094027;AL391650;AMYH02000551;BC006251;BF509598;CH471059;NM_001004434;NM_032513 AAH06251;AAQ15245;ADZ15896;BAG52799;EAX07849;EAX07850;NP_001004434;NP_115902;Q9BRI3 Hs.143545 2107599;2134054;5015961;5022576;5022578 D15S1477;D1S1361;D1S1423;SLC30A2_7908;WI-17216 FLJ36708;MGC11303;PP12488;TNZD;ZNT2;ZnT-2 OTTHUMP00000008699;OTTHUMP00000035104;solute carrier family 30 member 2;zinc transporter 2 protein-coding ENSG00000158014 HGNC:11013 18057 608118;609617 VALIDATED 1317319 SLC30A7 solute carrier family 30 (zinc transporter), member 7 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008] 1 1 1 p21.2 99623317 99709033 + 101361632 101552821 + 100896076 100997380 + 1580863;6480464;8554872 11076863;11230166;11256614;12446736;12477932;14702039;15154973;15276077;15489336;16344560;16381901;17349999;17353931;17971500;18029348;18639746;19064571;19322201;21139048;21462106;21833088;21890473;21987572;22190034;23275032;24654937 148867 H0Y362;Q8NEW0 ABBA01045434;AC093157;AC104506;AF233345;AF529197;AK023089;AK313638;AL732465;AMYH02001561;AX556911;AY094606;BC064692;BX537375;BX640630;BX648884;CH471097;CR936806;DA997188;HG492323;NM_001144884;NM_133496;XM_005270503;XR_246237 AAH64692;AAL83716;AAM21969;AAO17324;BAG36396;CAD58286;CAD97617;CAL37805;EAW72942;EAW72943;NP_001138356;NP_598003;Q8NEW0;XP_005270560 Hs.533903 1338436;1645716;1669153;1768089;2114596;2120502;2142417;2145227;2174663;2176374 D1S1154;D1S299E;RH64505;RH70028;SHGC-75215;SHGC-75231;SHGC-75235;SHGC-75236;STS-M78355;WI-17896 DKFZp686M0368;RP11-421L21.2;ZNT7;ZnT-7;ZnTL2 OTTHUMP00000013590;OTTHUMP00000013591;solute carrier family 30 member 7;zinc transporter 7;zinc transporter ZnT-7;zinc transporter like 2;znt-like transporter 2 APPROVED protein-coding ENSG00000162695 HGNC:19306 15369 611149 VALIDATED 1351746 SLC31A1P1 solute carrier family 31 (copper transporter), member 1 pseudogene 1 3 3 3 q26.31 170715745 170720542 - 172317176 172321973 - 172599386 172604183 - 11054564 117151 ABBA01058646;AC007919;AF238997;AMYH02008147;NG_009573 1336339;1686294 D9S262;RH65620 CTR1P;CTR1psi;SLC31A1P APPROVED pseudo HGNC:17124 INFERRED 737272 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013] 1 1 1 p34.2 41673133 41706939 - 43391046 43424847 - 42925375 42959176 - 1624245;1580863;1626159;1625539;2313601;2313617;730192;2313620;2312290;2312305;2312289;2303167;2312306;6480464;6484113;6907045;7240710;8554872;8699517 11738800;15449578;15466941;15745834;17935675;18613291;19781384;2211693;7516306;8179300;9462754;9789717 10086067;10198040;10227690;10562431;10655495;10759149;10980529;11007796;11136715;11168944;11231353;11296192;11425315;11477169;11483777;11603379;11681785;11747430;11774318;11836704;11842083;11920478;11953883;11991658;12064911;12086959;12112827;12122099;12133004;12145475;12379105;12379106;12393496;12477932;12554125;12583599;12673735;12752470;12849991;12942120;12969152;1429721;14622599;14674124;14679154;14688257;14702039;14757434;14991538;15073187;15086844;15147968;15166316;15331928;15342556;15454279;15489334;15502921;15682272;15709778;15767416;15778389;15823019;15847702;15924676;15955807;15967114;16125330;16126902;16136514;16142350;16147855;16169070;16172126;16195374;16220828;16273245;16310037;16344560;16407180;16443776;16519917;16681687;16681688;16800634;16842248;17020877;17064664;17071132;17080242;17081065;17167225;17192790;17294670;17387384;17404017;17442736;17451637;17452775;17504522;17554865;17591274;17611657;17635959;17727838;17854396;17991316;18097583;18172662;18177733;18191496;18212354;18227718;18245775;18246802;18271924;18290322;18311082;18324916;18343752;18347014;18351386;18387950;18401196;18410529;18422279;18451999;18565734;18577546;18614966;18676680;18695903;18726700;18764953;18821326;18948400;18953257;18973239;18981181;18987250;18990414;19016655;19020718;19020742;19085834;19142800;19152396;19166280;19170196;19173807;19234439;19286567;19289587;19292042;19303158;19304421;19347605;19366592;19386788;19420105;19434538;19449892;19465749;19471022;19490621;19533082;19533890;19536037;19554504;19569052;19587357;19619276;19625176;19630075;19648108;19648882;19655166;19681047;19692168;19709351;19738201;19798636;19819644;19822956;19883765;19948975;19955252;20030103;20063428;20079187;20113375;20221955;20301334;20301603;20375117;20382060;20395120;20424473;20428049;20512538;20526721;20527231;20540786;20569445;20574033;20607826;20630673;20679470;20687207;20703861;20730618;20803547;20846124;20854211;20937822;20947823;20965718;21029693;21033220;21075472;21109935;21135204;21139048;21194153;21206329;21252943;21270293;21273616;21281236;21294792;21295279;21306648;21317389;21321933;21332301;21343253;21348951;21384913;21395180;21411785;21438910;21442770;21445818;21475039;21521642;21528061;21546213;21555602;21697701;21707071;21791420;21808860;21832227;21838819;21870331;21899256;21906983;21920790;21938742;21962875;21963094;21986508;21987572;21987722;22011817;22029179;22069254;22072148;22153830;22199327;22200795;22221271;22228332;22234250;22234467;22253523;22263435;22270867;22282454;22282645;22304920;22308487;22363641;22376167;22398711;22437877;22470192;22475893;22483234;22509097;22623428;22663547;22673619;22704013;22707195;22795339;22800355;22812641;22813791;22814174;22829208;22835601;22843905;22847606;22888973;22899793;22901702;22939629;22961556;22971162;23000965;23002041;23030583;23076555;23098453;23106342;23108021;23187830;23219802;23227892;23280796;23306390;23359198;23427181;23453806;23480298;23483445;23615963;23617290;23661345;23674658;23720776;23740044;23744486;23861325;23889809;23935399;2394733;24146103;24164300;24343741;24483274;24699711;24816145;24824030;24847886;2834252;3028891;3170580;3201246;3839598;7798206;7829101;8619474;8662691;8794391;8839927;9110174;9153243;9330634 6513 A6NL68;C9JIM8;C9JR18;P11166;Q59GX2 AB208987;ABBA01050968;ABBA01050969;AC099795;AF070544;AK122999;AK292791;AK293306;AK296736;AK312403;AMYH02000888;AMYH02000889;AW137914;AY034633;BC118590;BC121804;BG682043;BI490999;BP314853;BQ948542;CH471059;CQ918450;DA753077;K03195;M20653;NG_008232;NM_006516 AAA52571;AAB61084;AAC28635;AAI18591;AAI21805;AAK56795;BAD92224;BAF85480;BAG35317;BAG53842;BAG56827;BAG59323;CAI23886;EAX07123;EAX07124;NP_006507;P11166 Hs.473721 1651965;1672711;1690518;1696950;1771190;1790363;1796830;2116664;2148306;2153078;2170181 G09541;RH101947;RH11019;RH68258;RH68980;RH91471;SHGC-2652;SHGC-74680;SLC2A1;SLC2A1_1316;WI-15743 DYT17;DYT18;DYT9;EIG12;GLUT;GLUT-1;GLUT1;GLUT1DS;HTLVR;MGC141895;MGC141896;PED OTTHUMP00000009006;glucose transporter type 1, erythrocyte/brain;hepG2 glucose transporter;human T-cell leukemia virus (I and II) receptor;receptor for HTLV-1 and HTLV-2;solute carrier family 2, facilitated glucose transporter member 1;solute carrier family 2,member 1 APPROVED protein-coding ENSG00000117394 HGNC:11005 00683 138140;143090;601042;606777;612126;614847 REVIEWED 1315825 SLC30A5 solute carrier family 30 (zinc transporter), member 5 This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011] 5 5 5 q12.1 65389051 65425100 + 68389776 68426899 + 69093949 69131072 + 1580628;6480464;8554872 12095919 10330022;11904301;11937503;12477932;12975309;14702039;15276077;16344560;17349999;17971500;18029348;18639746;19064571;19322201;19759014;20689807;21887337;21906983;22505724;22529353;22939629;23275032;24250222 64924 D6REM2;H0Y957;H0YAH4;Q8TAD4 ABBA01048288;ABBA01048289;ABBA01048290;AC010273;AF212235;AF461760;AK022558;AK022818;AK292925;AL833716;AMYH02011465;AMYH02011466;AY089991;AY358505;BC000808;BC003411;BC008198;BC017441;BC130452;BC130454;BC144349;BX537394;CH471137;DB090660;DB259372;JF802034;NG_030415;NM_001251969;NM_022902;NM_024055;XM_005248569;XM_006714672 AAH00808;AAH03411;AAH08198;AAH17441;AAI30453;AAI30455;AAI44350;AAI48651;AAI53203;AAK14921;AAL96437;AAM09099;AAQ88869;ACE86679;ACE87364;AEG25670;BAB14098;BAB14258;BAF85614;CAD97636;EAW51307;EAW51308;EAW51309;EAW51310;NP_001238898;NP_075053;NP_076960;Q8TAD4;XP_005248626;XP_006714735 Hs.631975 1674771;1689290;2108481;2120113;5014019;5037552 D5S2354;D8S2279;RH45168;RH93799;SLC30A5_8088;STS-R73498 FLJ12496;FLJ12756;MGC5499;ZNT5;ZNTL1;ZTL1;ZnT-5;hZTL1 OTTHUMP00000161922;OTTHUMP00000221929;OTTHUMP00000223027;ZnT5 variant B;solute carrier family 30 member 5;zinc transporter 5;zinc transporter ZTL1;znT-like transporter 1 APPROVED protein-coding ENSG00000145740 HGNC:19089 06381 607819 REVIEWED 1346344 SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1 The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 34063870 34068780 + 37353105 37358015 + 38724462 38729372 + 6480464 11780052;12115694;12477932;12750892;12806177;14702039;15489334;17471287;19843525;19874574;21396926;22510271;9349821;9921901 140679 Q9H598 ABBA01052531;AF064848;AK055051;AK091079;AL133519;AMYH02037062;AY044836;BC036458;BC053582;BI488536;CH471077;NM_080552 AAH36458;AAH53582;AAK98782;BAB70846;BAG52280;EAW76012;NP_542119;Q9H598 Hs.179080 2131651;2184968 AL030975;WI-16167 VGAT GABA and glycine transporter;OTTHUMP00000030977;VIAAT;hVIAAT;solute carrier family 32 member 1;vesicular GABA transporter;vesicular inhibitory amino acid transporter APPROVED protein-coding ENSG00000101438 HGNC:11018 18058 REVIEWED 1317968 SLC30A8 solute carrier family 30 (zinc transporter), member 8 The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] 8 8 8 q24.11 114151202 114377691 + 117962512 118188953 + 116950273 117176714 + 1580863;6480464;7240710;8554872 11076863;11230166;12477932;15154973;15331542;15489334;15489336;16158222;16381901;16984975;17293876;17460697;17463246;17463248;17463249;17657472;17786204;17804762;17928989;17942684;17971426;17971500;18162508;18162509;18210030;18212765;18252897;18264689;18324385;18400535;18426861;18437351;18443202;18461161;18469204;18477659;18498634;18516622;18544707;18548167;18591387;18591388;18598350;18618095;18628523;18633108;18694974;18719881;18850084;18984664;18991055;19002430;19008344;19020323;19020324;19033397;19056611;19064571;19082521;19096518;19108828;19120306;19120307;19172244;19225753;19228808;19247372;19258404;19258437;19279076;19323954;19324937;19336475;19380854;19401414;19479076;19502414;19542200;19590848;19592620;19602701;19622614;19655390;19720844;19734900;19741166;19741467;19794065;19808892;19808923;19862325;19892838;19933996;20035758;20075150;20081858;20091020;20138556;20167458;20185807;20203524;20215779;20384434;20424228;20490451;20509872;20550665;20571754;20580033;20581827;20610599;20616309;20703447;20712903;20802253;20809084;20816152;20836749;20873210;20879858;20889853;20929593;21036910;21073664;21099294;21103350;21131091;21244337;21510814;21604969;21779873;21792090;21798992;21814517;21873549;22046415;22424623;22443257;22446173;22447136;22487833;22526605;22526607;22529353;22581228;22582094;22586580;22653633;22686132;22693455;22778022;22787139;22923468;22957668;23194113;23251661;23390544;23396399;23696819;23861236;23945395;24002674;24051378;24101675;24306209;24471563;24584071 169026 E5RG87;Q8IWU4 ABBA01037793;ABBA01037794;ABBA01037795;ABBA01037796;AC027419;AC084114;AC087350;AC104391;AK298294;AL713790;AMYH02018659;AMYH02018660;AX556902;AY117411;BC015845;BC126446;BC143953;BQ631692;BU949895;CH471060;EF560713;HI380463;NG_016991;NM_001172811;NM_001172813;NM_001172814;NM_001172815;NM_173851 AAM80562;ABQ59023;BAG60552;CAD28545;CAD58283;CAL37399;CAL38185;CBX55804;EAW91968;NP_001166282;NP_001166284;NP_001166285;NP_001166286;NP_776250;Q8IWU4 Hs.532270 1669684;1734092;1763365;1786700 D8S1201;D8S1673;SHGC-147089;SHGC-154540 ZNT8;ZnT-8 OTTHUMP00000228049;OTTHUMP00000228051;OTTHUMP00000228052;zinc transporter 8;zinc transporter ZnT-8 APPROVED protein-coding ENSG00000164756 HGNC:20303 15370 125853;611145 REVIEWED 1315097 SLC30A9 solute carrier family 30 (zinc transporter), member 9 ENCODES a protein that exhibits cation transmembrane transporter activity (inferred); chromatin binding (inferred); ligand-dependent nuclear receptor binding (inferred); INVOLVED IN cation transmembrane transport (inferred); nucleotide-excision repair (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoskeleton; nucleus; INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; disodium selenite 4 4 4 p13 42436367 42535251 + 41992516 42089551 + 41990506 42087534 + 1580863;6480464;8554872 10409434;11906820;12477932;15988012;17349999;17971500;19064571;19322201;21139048;22939629;8125298 10463 D6R9M6;Q6PML9 AA427879;ABBA01014278;ABBA01014279;ABBA01014280;ABBA01014281;AC106052;AC113151;AF006621;AK225470;AK299917;AK312838;AMYH02009102;AMYH02009103;AY319413;AY594282;BC000240;BC007732;BC016949;BC022981;BG323207;CH471069;NM_006345 AAB87763;AAH07732;AAH16949;AAH22981;AAP83846;AAT02479;AAY40966;BAG35692;BAG61754;EAW92996;EAW92997;EAW92998;EAW92999;NP_006336;Q6PML9 Hs.479634 1659124;1661029;1674902;1722401;1744333;1850903;1852233;2145718;5093124 A009G43;D4S2797;G32534;G60273;GDB:451712;SHGC-68054;SHGC4-259;STS-AA016310;WI-21988 C4orf1;GAC63;HUEL;ZNT9;znT-9 GRIP1-dependent nuclear receptor coactivator;OTTHUMP00000125233;expressed in human embryonic lung;human embryonic lung protein;solute carrier family 30 member 9;zinc transporter 9 protein-coding HGNC:1329 06858 604604 VALIDATED 1317461 SLC31A2 solute carrier family 31 (copper transporter), member 2 ENCODES a protein that exhibits copper ion transmembrane transporter activity (inferred); INVOLVED IN cellular copper ion homeostasis (inferred); copper ion transmembrane transport (inferred); copper ion transport (inferred); FOUND IN integral component of plasma membrane (inferred); late endosome (inferred); recycling endosome (inferred); INTERACTS WITH all-trans-retinoic acid; bathocuproine disulfonic acid; benzo[a]pyrene diol epoxide I 9 9 9 q32 86561147 86574330 + 115913238 115926422 + 113150958 113164142 + 1580863;6480464 12477932;14722252;15342556;15489334;17617060;17944601;19509135;21103663;23284715;23564780;23864651;9207117 1318 F2Z3D2;O15432;Q53X94 ABBA01042691;AK057903;AK131071;AK131546;AK295544;AL449105;AMYH02021503;BC026252;BP341248;CH471090;CN480022;CR407615;NM_001860;U83461;XM_006716951 AAB66307;AAH26252;ABM82295;ABM85475;BAG58452;CAG28543;EAW87355;NP_001851;O15432;XP_006717014 Hs.24030 1665016;1674089;1757771;1758411;1771011;2154231;2174568;2174570;2218000 A006C39;G20709;SHGC-146491;SHGC-148266;SLC31A2_3954;STS-N35585;WI-11879;WI-17544;WI-22404 COPT2;CTR2;hCTR2 OTTHUMP00000022792;copper transporter 2;probable low affinity copper uptake protein 2;solute carrier family 31 (copper transporters), member 2;solute carrier family 31 member 2 APPROVED protein-coding ENSG00000136867 HGNC:11017 04365 603088 VALIDATED 735683 SLC31A1 solute carrier family 31 (copper transporter), member 1 The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011] 9 9 9 q32 86631426 86674386 + 115983808 116026772 + 113221528 113264492 + 1580863;6480464;8549769;8548480;8548473 22796517;23123662;24278698 11054564;11734551;11983704;12023893;12034741;12177073;12466020;12477932;12501239;14702039;14976198;15326162;15489334;15634665;16356544;16501047;17627945;17959139;19144690;19147760;19240214;19529937;19669174;19684018;19740744;19856191;19929093;20534491;20569931;20699218;21072377;21602128;22068728;22354499;22516052;22552365;22569840;22684009;22725681;22962276;23010323;23303382;23426973;23658018;23782748;23827522;23963605;24039729;24132751;24297923;8125298;9207117 1317 O15431 ABBA01042690;ABBA01042691;AK056926;AK129613;AK222866;AK292511;AL449305;AL831843;AMYH02021506;AMYH02021507;AMYH02021508;BC004315;BC013611;BC061924;CH471090;NM_001859;U83460 AAB66306;AAH04315;AAH13611;AAH61924;ABM82379;ABM85558;BAD96586;BAF85200;CAD38549;EAW87357;EAW87358;EAW87359;NP_001850;O15431 Hs.532315 1336339;1682307;1686294;1700186;2168933;5015619;5022578;5037552 D11S3114;D1S1423;D8S2279;D9S262;RH103708;RH12245;RH46393;RH65620 COPT1;CTR1;MGC75487;hCTR1 OTTHUMP00000021950;OTTHUMP00000021951;copper transport 1 homolog;copper transporter 1;high affinity copper uptake protein 1;solute carrier family 31 (copper transporters), member 1;solute carrier family 31 member 1 APPROVED protein-coding ENSG00000136868 HGNC:11016 04362 603085 REVIEWED 733686 SLC34A1 solute carrier family 34 (type II sodium/phosphate contransporter), member 1 This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 5 5 5 q35 171675605 171689835 - 176811432 176825849 + 177384431 177398848 + 730120;1580863;2311304;6480464;7242923;7242924;7242925;7242927;7242930;7242933;7242935;7242936;7242938;7242939;7242940;7242942;7242943;7242944;7242947;7242948;7243005;7243007;7243096;7243098;7243099;7243100;7240710;7207819;7243131;7243122;7243134;8554872;8699517 10098486;11004225;12674325;15355967;15452708;15775707;16358215;17409279;18337544;18535837;18550648;18835926;19193726;19439519;19515808;19570882;19729856;19933269;20335586;20383146;20418498;20466874;21778753;21784483;21826734;22396660;8327470;9560283 11099500;11880379;12324554;12477932;12952859;14558883;14672348;14694264;14702039;15342556;15504898;15613617;16105044;16688119;16955105;17895247;20558539;21597970;22506049;22703881;23313484;24068962;24258620;8188224;8693007;8898024;9210418;9530108;9683733 6569 D6RCE5;Q06495;Q7Z725;Q86VN6 ABBA01033457;AC145098;AF058289;AI650347;AK096088;AK298299;AMYH02012836;BC034756;BC035294;BC050385;BC053349;BI759164;BP275443;CH471195;D89927;L13258;NG_016223;NM_001167579;NM_003052;U56684;U56692;U56694;XM_005265974;XM_005265975 AAA36354;AAD14856;AAD14864;AAD14866;AAH35294;AAH50385;AAH53349;BAC04699;BAG60555;EAW85007;EAW85008;EAW85009;EAW85010;NP_001161051;NP_003043;Q06495;XP_005266031;XP_005266032 Hs.936 1660140;2108483 RH17618;SLC34A1_7879 FRTS2;NAPI-3;NPHLOP1;NPT2;NPTIIa;SLC11;SLC17A2 Na(+)-dependent phosphate cotransporter 2A;Na(+)/Pi cotransporter 2A;Na+-phosphate cotransporter type II;OTTHUMP00000161450;OTTHUMP00000223822;naPi-2a;renal sodium-dependent phosphate transporter;sodium-dependent phosphate transport protein 2A;sodium-phosphate transport protein 2A;sodium/phosphate co-transporter;sodium/phosphate cotransporter 2A;solute carrier family 17 (sodium phosphate), member 2;solute carrier family 34 (sodium phosphate), member 1;solute carrier family 34 member 1;solute carrier family 34, member 1 APPROVED protein-coding ENSG00000131183 HGNC:11019 08918 182309;612286;613388 REVIEWED 733113 SLC34A2 solute carrier family 34 (type II sodium/phosphate contransporter), member 2 The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010] 4 4 4 p15.2 26105505 26128442 + 25656853 25680735 + 25655813 25678748 + 1580863;6480464;7240710;7207819;8554872;8699517 21778753 10329428;10610722;11171583;11880379;12477932;12488042;12893629;14702039;15458926;15970207;16303743;16344560;16960801;17091453;17095743;18724815;19119262;19134407;19190083;19617834;20017296;20046000;20457063;21036732;21716206;21956469;22336687;22553815;23164546;23936189;25036637;8889548 10568 D6RA94;D6RBC0;O95436 ABBA01032703;AC092436;AF111856;AF146796;AK075015;AK075045;AK075046;AK292675;AK314514;AMYH02008914;AMYH02008915;BC142704;BC146666;CA435368;CH471069;CN479082;DB201517;DB241180;NG_021185;NM_001177998;NM_001177999;NM_006424 AAC98695;AAF31328;AAI42705;AAI46667;BAC11354;BAF85364;EAW92842;NP_001171469;NP_001171470;NP_006415;O95436 Hs.479372 1849461;1850394;2108485;2121263;2151427 A001V25;D4S1384;G15986;SHGC-51145;SLC34A2_7976 FLJ90534;NAPI-3B;NAPI-IIb;NPTIIb OTTHUMP00000123386;OTTHUMP00000218055;OTTHUMP00000218056;sodium-dependent phosphate transport protein 2B;sodium/phosphate cotransporter 2B;solute carrier family 34 (sodium phosphate), member 2;type II sodium-dependent phosphate transporter 3b APPROVED protein-coding ENSG00000157765 HGNC:11020 07251 265100;604217;610441 REVIEWED 1348656 SLC34A3 solute carrier family 34 (type II sodium/phosphate contransporter), member 3 This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010] 9 9 9 q34 985 2555 - 140125209 140131006 + 137230757 137236554 + 1299524;1580863;6480464;7240710;7207819;8554872;8699517 11880379;21778753 12477932;14531806;14702039;15504899;16358214;16358215;16955105;17968493;18468998;18480181;19820004;22159077;22387237;22672866;22806288;23246670 142680 Q8N130 AB055000;ABBA01022751;ABBA01022752;AK095999;AL832449;AMYH02021928;BC029942;BX255925;NG_017008;NM_001177316;NM_001177317;NM_080877 AAI72399;BAB83242;BAC04667;NP_001170787;NP_001170788;NP_543153;Q8N130 Hs.432442 2106623 SLC34A3__3713 FLJ38680;HHRH;NPTIIc;naPi-2c Na(+)-dependent phosphate cotransporter 2C;Na(+)/Pi cotransporter 2C;OTTHUMP00000162587;sodium-dependent phosphate transport protein 2C;sodium-phosphate transport protein 2C;sodium/inorganic phosphate cotransporter IIC;solute carrier family 34 (sodium phosphate), member 3;type IIc Na+/Pi cotransporter APPROVED protein-coding ENSG00000198569 HGNC:20305 10236 241530;609826 REVIEWED 1322776 SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1 The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009] 6 6 6 q15 88601449 88640875 + 88182637 88222057 + 87472925 87512339 + 1580863;6480464;7240710;8699517;8554872 12477932;12682060;14574404;14702039;15489334;15576474;16343442;16344560;16923816;17207965;20301507;23251661;23873973;24816145;8427599;8617505;8755516;8889548;9010752;964426;9644260 10559 B4DEM1;P78382;Q5W1L7 ABBA01040494;ABBA01040495;AJ810302;AJ810303;AJ851888;AJ851889;AJ851890;AK293696;AK299432;AL049697;AL122119;AMYH02014054;BC008372;BC017807;BG699364;CB242593;CH471051;D87969;DA210713;DB095595;NG_016207;NM_001168398;NM_006416 AAH17807;ADQ32146;BAA13522;BAG57132;BAG61410;CAH17780;CAH17781;CAH56397;CAH65468;CAH65469;CAH65470;EAW48599;NP_001161870;NP_006407;P78382 Hs.423163 1644810;1646193;2154927;2186123 RH12764;RH66170;SGC35202;STS-R72165 CDG2F;CMPST;CST;FLJ76955;hCST;inactive CMP-SA-Tr;CMP-Sia-Tr;CMP-sialic acid transporter;OTTHUMP00000016832;mutated CMP-sialic acid transporter A1;solute carrier family 35 (CMP-sialic acid transporter), member 1;solute carrier family 35 (UDP-galactose transporter), member 1;solute carrier family 35 member A1 APPROVED protein-coding ENSG00000164414 HGNC:11021 09290 603585;605634 REVIEWED 1353471 SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014] X X X p11.23-p11.22 52894294 52903071 + 48760459 48769235 - 48903180 48911958 - 1580863;6480464;8699517;8554872;7240710 11279205;11389099;12477932;12925779;14702039;16189514;18029348;18854154;20301507;21918738;23561849;23583405;24115232;8125298;8128316;8889805;9010752;9399569 7355 A6NFI1;A6NGW4;A6NKM8;B4DE15;C9JCV5;P78381 AB042425;ABBA01046079;ABBA01046080;ABBA01046081;AC233300;AF207550;AI632201;AK090730;AK225508;AK290284;AK292816;AK293415;AK293419;AK298484;AK299748;AL556714;AMYH02039311;BC035747;BI820134;CH471224;CR450287;D84454;D88146;NG_034300;NM_001032289;NM_001042498;NM_001282647;NM_001282648;NM_001282649;NM_001282650;NM_001282651;NM_005660 AAH35747;BAA12673;BAA13545;BAA95614;BAA95615;BAC03509;BAF82973;BAF85505;BAG56922;BAG56926;BAG60694;BAG61639;CAG29283;EAW50731;EAW50732;EAW50733;EAW50734;NP_001027460;NP_001035963;NP_001269576;NP_001269577;NP_001269578;NP_001269579;NP_001269580;NP_005651;P78381 Hs.21899 1648967;1660281;1776797;2184301 RH78860;STS-H88980;STS-R01143;WI-13527 CDG2M;CDGX;UDP-Gal-Tr;UGAT;UGT;UGT1;UGT2;UGTL OTTHUMP00000025813;OTTHUMP00000025814;OTTHUMP00000025815;OTTHUMP00000025816;OTTHUMP00000025817;OTTHUMP00000025818;OTTHUMP00000025819;UDP-galactose translocator;UDP-galactose transporter;UGALT;solute carrier family 35 (UDP-galactose transporter), member 2;solute carrier family 35 member A2 protein-coding ENSG00000102100 HGNC:11022 02441 300896;314375 REVIEWED 1348037 SLC35A4 solute carrier family 35, member A4 ENCODES a protein that exhibits sugar:proton symporter activity (inferred); INVOLVED IN carbohydrate transport (inferred); proton transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; nickel atom; trichostatin A 5 5 5 q31.3 136021170 136025433 + 139944420 139948683 + 140564835 140569098 + 1580863;6480464;8554872 12477932;12782588;17207965;24250222 113829 Q96G79 ABBA01026426;AC011399;AC116353;AF445025;AJ420598;AK122601;AK289378;AK307282;AL833972;AMYH02012339;BC009906;CH471062;NM_080670 AAH09906;AAL38586;ADQ32306;BAC85488;BAF82067;CAD38817;EAW62040;NP_542401;Q96G79 Hs.406840 1740499;1740519;1768546;1768548;2108487;2116091 D5S1647E;D5S2292E;D5S2307E;D5S2325;SLC35A4_8124;WI-12008 MGC2541 OTTHUMP00000159875;OTTHUMP00000223644;probable UDP-sugar transporter protein SLC35A4;solute carrier family 35 (UDP-galactose transporter), member A4;tumor rejection antigen protein-coding ENSG00000176087 HGNC:20753 11574 PROVISIONAL 1344135 SLC35A5 solute carrier family 35, member A5 ENCODES a protein that exhibits nucleotide-sugar transmembrane transporter activity (inferred); sugar:proton symporter activity (inferred); INVOLVED IN carbohydrate transport (inferred); nucleotide transmembrane transport (inferred); nucleotide-sugar transport (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 3 3 3 q13.2 110689568 110711683 + 112280857 112303286 + 112562010 112584439 + 1580863;6480464 12477932;12975309;14702039;17207965;19850743;24250222 55032 C9J7U8;C9JXZ8;F8WDF8;H7BXF8;Q9BS91 AB075484;ABBA01061660;ABBA01061661;ABBA01061662;ABBA01061663;AC048334;AC092692;AK000737;AK001992;AK098839;AK172825;AK297411;AL117531;AMYH02007442;AY358994;BC005207;BC010307;BC013046;CH471052;DA854399;NM_017945 AAH05207;AAH10307;AAH13046;AAQ89353;ADQ32726;BAA91350;BAD18792;BAG59846;CAH10717;EAW79666;EAW79667;NP_060415;Q9BS91 Hs.237480 2108923 SLC35A5_8059 DKFZp434E102;FLJ11130;FLJ20730;FLJ25973 OTTHUMP00000214565;OTTHUMP00000214566;OTTHUMP00000214567;probable UDP-sugar transporter protein SLC35A5 protein-coding HGNC:20792 11575 VALIDATED 1351742 SLC35B1 solute carrier family 35, member B1 This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 17 17 17 q21.33 44233680 44240270 - 47778296 47785313 - 49700934 49707958 - 1580863;6480464 11337467;12477932;14702039;15489334;17113583;19270184;20800603;21832049;22082156;23506892;8076819;8617505;9010752 10237 D3DTX1;D6R981;D6R9G9;D6RB73;D6RDY9;D6RE58;D6RF81;D6RG34;D6RHG0;P78383 ABBA01041213;AC015795;AI252816;AK098056;AK293563;AK296073;AMYH02033580;AU099388;AU309730;BC011888;BM476321;BX641166;CH471109;CR745911;CX164572;D87989;DR980774;NM_001278784;NM_005827;XM_005256929;XM_006721632 AAH11888;ABM84351;ABW03613;BAA13525;BAG57035;BAG58831;CAE46073;EAW94665;EAW94666;EAW94667;EAW94668;EAW94669;EAW94670;NP_001265713;NP_005818;P78383;XP_005256986;XP_006721695 Hs.154073 1772820;2191797 A007B33;MARC_7913-7914:1010423980:1 UGTREL1 OTTHUMP00000220497;OTTHUMP00000220500;OTTHUMP00000220579;UDP-galactose transporter related;UDP-galactose transporter-related protein 1;hUGTrel1;solute carrier family 35 member B1 protein-coding ENSG00000121073 HGNC:20798 10237 610790 REVIEWED 1349281 SLC35B2 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM, Mar 2008] 6 6 6 p12.1-p11.2 45774983 45778432 - 44221838 44225283 - 44254101 44257890 - 1580863;6480464 12477932;12716889;12761501;14574404;15146197;15489334;16303743;16344560;17081983;19773279;20978009;21139048;21987572;23464991;24816145;8125298 347734 B4DDM2;Q8TB61 AB097021;AB097039;AB106538;ABBA01050642;AK075456;AK123749;AK223028;AK293251;AK293344;AK307572;AL139392;AMYH02013657;AY491520;BC016839;BC024288;BI769501;CH471081;CN370928;DA370522;DA383304;DA424392;DA817588;DB010939;HY044970;NM_001286509;NM_001286510;NM_001286511;NM_001286512;NM_001286513;NM_001286517;NM_001286519;NM_001286520;NM_178148 AAH16839;AAH24288;AAS79661;ABM84240;ABM87627;ABM87631;ABW03805;BAC11631;BAC77374;BAC77392;BAC79117;BAD96748;BAG53951;BAG56783;BAG56860;EAX04261;NP_001273438;NP_001273439;NP_001273440;NP_001273441;NP_001273442;NP_001273446;NP_001273448;NP_001273449;NP_835361;Q8TB61 Hs.182885 1664633;1667810;1744327;1857463;2109851;2115371;2148319;2156602;2167183;2178384;2217666 A006I17;D6S1157E;GDB:451694;NFKBIE_3084;RH15775;RH36212;RH41920;RH65822;SHGC-32848;SLC35B2_8181;WI-21703 PAPST1;SLL;UGTrel4 3'-phosphoadenosine 5'-phosphosulfate transporter;OTTHUMP00000016513;OTTHUMP00000016514;PAPS transporter 1;adenosine 3'-phospho 5'-phosphosulfate transporter 1;putative MAPK-activating protein PM15;putative NF-kappa-B-activating protein 48;solute carrier family 35 member B2 variant 2;solute carrier family 35, member B2 APPROVED protein-coding ENSG00000157593 HGNC:16872 11576 610788 VALIDATED 731999 SLC2A13 solute carrier family 2 (facilitated glucose transporter), member 13 ENCODES a protein that exhibits substrate-specific transmembrane transporter activity (inferred); INVOLVED IN transmembrane transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; cyclosporin A 12 12 12 q12 38952820 39302877 - 40148823 40499847 - 39755021 40106045 - 634137;1580863;6480464;8554872 11500374 12477932;15203218;15489334;17081983;18976975;19473719;19607714;19915576;20379614;22451204;23728906;23870195 114134 E9PE47;Q96QE2 ABBA01049538;ABBA01049539;ABBA01049540;ABBA01049541;AC079630;AC117403;AC121335;AC121336;AJ315644;AK000182;AK026495;AMYH02026333;AMYH02026334;AMYH02026335;AMYH02026336;BC039431;BC047507;BC117117;BC117119;CD635353;CH471111;KF455637;NM_052885;XM_005268616 AAH47507;AAI17118;AAI17120;CAC51116;EAW57811;NP_443117;Q96QE2;XP_005268673 Hs.558595 1655290;1655292;1672492;1703730;1736300;1766197;1782624;1798456;1799034;1799106;1799288;1800108;1800276;1800658;1800660;1800758;1800820;1801280;1801400;1801550;1802046;1802262;1802810;1802870;1802968;1803082;1803210;1803478;1803990;1804150;1804152;1805402;1807174;1807300;1808344;1808470;1808756;1808900;1809096;1809338;1809340;1809428;1809590;1809646;1809648;1809902;1810138;1810140;1810432;1810506;1810640;1812046;1812048;1812594;1812660;1813122;1813410;1813748;1813994;1814162;1815434;1815496;1815824;1815826;1816396;1816492;1816776;1816930;1817420;1817422;1817950;1818310;1818608;1818688;1818954;1819272;1819344;1819404;1819800;1819802;1820076;1820304;1820496;1821002;1821156;1821874;1822122;1822672;1822826;1823070;1823072;1824202;1824824;1825460;1826346;1826706;1827254;1827340;1827614;1827746;1829014;1829572;1830400;1830758;1830804;1830958;1831442;1831770;1831990;1831992;1832356;1832432;1832476;1833390;1833698;1834010;1834012;1834062;1834408;1835050;1835156;1836064;1836356;1836426;1837668;1837966;1838382;1838540;1840216;1840472;1842058;1844106;1844472;1844878;1845282;1845348;1845458;1845588;1845870;1846066;1846258;1846344;1846476;1853498;1910850;1910852;1910854;1910856;1910858;1910860;1910862;1910864;1910866;1910868;1910870;1910872;1910874;1910876;1910878;1910880;1910882;1910884;1910886;1910888;1910890;1910892;1910894;1910896;1910898;1910900;1910902;1910904;1910906;1910908;1910910;1910912;1910914;1910916;1910918;1910920;1910922;1910924;1910926;1910928;1910930;1910932;1910934;1910936;1910938;1910940;1910942;1910944;1910946;1910948;1910950;1910952;1910954;1910956;1910958;1910960;1910962;1910964;1910966;1910968;1910970;1910972;1910974;1910976;1910978;1910980;1910982;1910984;1910986;1910988;1910990;1910992;1910994;1910996;1910998;1911000;1911002;1911004;1911006;1911008;1911010;1911012;1911014;1911016;1911018;1911020;1911022;1911024;1911026;1911028;1911030;1911032;1911034;1911036;1911038;1911040;1911042;1911044;1911046;1911048;1911050;1911052;1911054;1911056;1911058;1911060;1911062;1911064;1911066;1911068;1911070;1911072;1911074;1911076;1911078;1911080;1911082;1911084;1911086;1911088;1911090;1911092;1911094;1911096;1911098;1911100;1911102;1911104;1911106;1911108;1911110;1911112;1911114;1911116;1911118;1911120;1911122;1911124;1911126;1911128;1911130;1911132;1911134;1911136;1911138;1911140;1911142;1911144;1911146;1911148;1911150;1911152;1911154;1911156;1911158;1911160;1911162;1911164;1911166;1911168;1911170;1911172;1911174;1911176;1911178;1911180;1911182;1911184;1911186;1911188;1911190;1911192;1911194;1911196;1911198;1911200;1911202;1911204;1911206;1911208;1911210;1911212;1911214;1911216;1911218;1911220;1911222;1911224;1911226;1911228;1911230;1911232;1911234;1911236;1911238;1911240;1911242;1911244;1911246;1911248;1911250;1911252;1911254;1911256;1911258;1911260;1911262;1911264;1911266;1911268;1911270;1911272;1911274;1911276;1911278;1911280;1911282;1911284;1911286;1911288;1911290;1911292;1911294;1911296;1911298;1911300;1911302;1911304;1911306;1911308;1911310;1911312;1911314;1911316;1911318;1911320;1911322;1911324;1911326;1911328;1911330;1911332;1911334;1911336;1911338;1911340;1911342;1911344;1911346;1911348;1911350;1911352;1911354;1911356;1911358;1911360;1911362;1911364;1911366;1911368;1911370;1911372;1911374;1911376;1911378;1911380;1911382;1911384;1911386;1911388;1911390;1911392;1911394;1911396;1911398;1911400;1911402;1911404;1911406;1911408;1911410;1911412;1911414;1911416;1911418;1911420;1911422;1911424;1911426;1911428;1911430;1911432;1911434;1911436;1911438;1911440;1911442;1911444;1911446;1911448;1911450;1911452;1911454;1911456;1911458;1911460;1911462;1911464;1911466;1911468;1911470;1911472;1911474;1911476;1911478;1911480;1911482;1911484;1911486;1911488;1911490;1911492;1911494;1911496;1911498;1911500;1911502;1911504;1911506;1911508;1911510;1911512;1911514;1911516;1911518;1911520;1911522;1911524;1911526;1911528;1911530;1911532;1911534;1911536;1911538;1911540;1911542;1911544;1911546;1911548;1911550;1911552;1911554;1911556;1911558;1911560;1911562;1911564;1911566;1911568;1911570;1911572;1911574;1911576;1911578;1911580;1911582;1911584;1911586;1911588;1911590;1911592;1911594;1911596;1911598;1911600;1911602;1911604;1911606;1911608;1911610;1911612;1911614;1911616;1911618;1911620;1911622;1911624;1911626;1911628;1911630;1911632;1911634;1911636;1911638;1911640;1911642;1911644;1911646;1911648;1911650;1911652;1911654;1911656;1911658;1911660;1911662;1911664;1911666;1911668;1911670;1911672;1911674;1911676;1911678;1911680;1911682;1911684;1911686;1911688;1911690;1911692;1911694;1911696;1911698;1911700;1911702;1911704;1911706;1911708;1911710;1911712;1911714;1911716;1911718;1911720;1911722;1911724;1911726;1911728;1911730;1911732;1911734;1911736;1911738;1911740;1911742;1911744;1911746;1911748;1911750;1911752;1911754;1911756;1911758;1911760;1911762;1911764;1911766;1911768;1911770;1911772;1911774;1911776;1911778;1911780;1911782;1911784;1911786;1911788;1911790;1911792;1911794;1911796;1911798;1911800;1911802;1911804;1911806;1911808;1911810;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HMIT;MGC48624 H(+)-myo-inositol symporter;OTTHUMP00000066086;h(+)-myo-inositol cotransporter;proton (H+) myo-inositol symporter;proton myo-inositol cotransporter;solute carrier family 2 member 13 protein-coding ENSG00000151229 HGNC:15956 15363 611036 VALIDATED 1320404 SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009] 1 1 1 p32-p31 65754958 65810053 - 67465015 67520080 - 66999332 67054397 - 1580863;6480464;7240710;8554872;8699517 11322953;12107410;12477932;15489334;16710414;17482904;17952091;19508970;20379614;22412388;22505724;24250222;8889548;9039502 23169 B7Z3X2;Q9NTN3 AB044343;ABBA01074523;AK289800;AL133320;AL500525;AMYH02001198;BC093786;BC112031;BQ001392;BU619019;BU679620;CA391890;CH471059;D87449;NG_012933;NM_015139;XM_006710478;XM_006710479;XM_006710480 AAH93786;AAI12032;BAA13390;BAB18586;BAF82489;EAX06504;NP_055954;Q9NTN3;XP_006710541;XP_006710542;XP_006710543 Hs.213642 1643654;1662169;1671251;2116249;2132105;2151872 AL009972;D1S3135;D1S3287;G16198;G30944;RH46458 KIAA0260;MGC138236;UGTREL7 OTTHUMP00000010965;UDP-GlcA/UDP-GalNAc transporter;UDP-galactose transporter-related 7;UDP-galactose transporter-related protein 7;UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter;solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1;solute carrier family 35 member D1 APPROVED protein-coding ENSG00000116704 HGNC:20800 15372 269250;610804 REVIEWED 1322607 SLC35C2 solute carrier family 35 (GDP-fucose transporter), member C2 This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013] 20 20 20 q13.12 41689609 41704478 - 44978167 44993097 - 46347350 46364458 - 6480464;8554872 10810093;11247664;11549316;11780052;11856893;11934252;12461647;12477932;14702039;15489334;16341674;16344560;21890473;21906983;21987572;23000965;8125298;8889548 51006 B7Z6R4;F5H4T9;Q5JW03;Q5JW04;Q9NQQ7 ABBA01052679;AF132949;AF455052;AK094358;AK128842;AK222928;AK300207;AK300798;AK301022;AK315726;AL133227;AMYH02037158;AW275152;BC014191;BC021138;BC025277;BI831689;BM666377;BM846744;CH471077;DA820126;DB023133;DB246755;NM_001281457;NM_001281458;NM_001281459;NM_001281460;NM_015945;NM_173073;NM_173179;XM_005260414;XM_006723801 AAD27724;AAH14191;AAH21138;AAH25277;AAL59605;ABM82820;ABM87836;BAD96648;BAH13238;BAH13350;BAH13392;EAW75747;EAW75748;EAW75749;EAW75750;EAW75751;EAW75752;EAW75753;NP_001268386;NP_001268387;NP_001268388;NP_001268389;NP_057029;NP_775096;NP_775271;Q9NQQ7;XP_005260471;XP_006723864 Hs.593344;Hs.723629 1674456;1683741;2107603;2138940;2168165;5491635 A006N01;MARC_27498-27499:1034364070:5;RH18312;RH46558;RH92511;SLC35C2__6851 BA394O2.1;C20orf5;CGI-15;FLJ37039;FLJ46434;MGC20633;MGC32079;MGC39183;OVCOV1 OTTHUMP00000031690;OTTHUMP00000031691;OTTHUMP00000031692;OTTHUMP00000031694;OTTHUMP00000031696;ovarian cancer overexpressed 1;ovarian cancer-overexpressed gene 1 protein;solute carrier family 35 member C2 APPROVED protein-coding ENSG00000080189 HGNC:17117 15371 REVIEWED 1319900 SLC35D2 solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008] 9 9 9 q22.32 69524567 69587574 - 99075719 99145992 - 96313437 96383710 - 1580863;6480464;8554872 12477932;12759756;15082721;15607426;19276090;23144319;23793025;9927678 11046 Q5VZJ2;Q76EJ3 AB106537;AB122077;ABBA01043591;ABBA01043592;ABBA01043593;ABBA01043594;ABBA01043595;AJ005866;AK024841;AK307890;AL160269;AMYH02021292;AMYH02021293;BC009413;BC015146;BC100278;BC113579;BX361048;CH471174;DB547513;NM_001286990;NM_007001;NR_104627;XM_005251673;XM_005251674;XM_005251675;XM_005251676;XM_005251678;XM_006716939 AAH09413;AAI00279;AAI13580;ADR83361;BAC99016;BAD14396;CAA06743;EAW92646;EAW92647;NP_001273919;NP_008932;Q76EJ3;XP_005251730;XP_005251731;XP_005251732;XP_005251733;XP_005251735;XP_006717002 Hs.494556;Hs.731624 2108491 SLC35D2_7988 HFRC1;MGC117215;MGC142139;SQV7L;UGTrel8;hfrc OTTHUMP00000021719;SQV7-like protein;UDP-N-acetylglucosamine transporter;UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter;UDP-galactose transporter-related protein 8;fringe connection;homolog of Fringe connection protein 1;solute carrier family 35, member D2 APPROVED protein-coding ENSG00000130958 HGNC:20799 16456 609182 VALIDATED 1319766 SLC35D3 solute carrier family 35, member D3 INVOLVED IN carbohydrate transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; trichostatin A; valproic acid 6 6 6 q23.3 137983854 137987229 + 137243402 137246777 + 136922264 136925639 + 6480464;8554872 12477932 340146 Q5M8T2 ABBA01025823;AK295424;AK316095;AL365223;AMYH02014562;BC067217;BC087842;CH471051;NM_001008783 AAH67217;AAH87842;BAG58370;BAH14466;EAW47939;NP_001008783;Q5M8T2 Hs.369703 1697676;2218606 RH102353;SLC35D3_3740 FRCL1;MGC102873;bA55K22.3 OTTHUMP00000017279;frc, fringe-like 1;fringe connection-like protein 1;solute carrier family 35 member D3 protein-coding ENSG00000182747 HGNC:15621 18059 612519 PROVISIONAL 1319908 SLC35E1 solute carrier family 35, member E1 INVOLVED IN transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; benzene; benzo[a]pyrene diol epoxide I 19 19 19 p13.11 16562488 16585032 - 16660648 16683193 - 16549837 16572382 - 1580863;6480464 12477932;14702039;15489334;16169070;16303743;21890473;21906983;24163370 79939 C9JK45;H7C1I0;Q96K37 ABBA01051149;ABBA01051150;AC008764;AK024313;AK027699;AK027850;AK075355;AL080085;AMYH02035684;AMYH02035685;BC007731;BC014557;BC062562;BU619655;BX640756;CH471106;CR457326;NG_031959;NM_024881 AAH14557;AAH62562;BAB14879;BAB55306;BAB55410;BAC11565;CAE45863;CAG33607;EAW84550;EAW84551;EAW84552;EAW84553;NP_079157;Q96K37 Hs.620596 1680447;1699634;1708140;5015404;5015961;5016478;5022576;5117897 D15S1477;D1S1361;GDB:434012;GDB:631813;L17705;RH103420;RH93836;SHGC-81472 DKFZp564G0462;FLJ14251;FLJ36689;MGC44954 OTTHUMP00000201974;OTTHUMP00000201992;solute carrier family 35 member E1 protein-coding ENSG00000127526 HGNC:20803 15373 VALIDATED 5133162 SLC35E1P1 solute carrier family 35, member E1 pseudogene 1 13 13 13 q12.11 2243138 2328596 + 21181218 21184721 + 20607079 20610582 + 727991 ABBA01068586;AL161772;AMYH02027639;NG_007300 1667745;1723753;1748415;2108613;2113466;2114569;2176463 D13S1798;G64212;RH118612;RH65721;SHGC-57879;STS-U20362;TTC10_8779 FLJ14793 pseudo HGNC:42046 INFERRED 1319214 SLC35E2 solute carrier family 35, member E2 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 1 1 1 p36.33 917683 931435 + 1656277 1677438 - 1724838 1745999 - 6480464 12477932;14702039;19322201;9455484 9906 P0CK97;Q6ZTL7 ABBA01016066;ABBA01016067;AI802363;AK092315;AK126501;AL031282;AL049665;AMYH02000108;BC062371;BC101666;BC112289;DB461679;NM_001199787;NM_182838 AAI01667;AAI12290;ADR83324;BAC86569;CAB41241;NP_001186716;NP_878258;P0CK97 Hs.655255;Hs.707620;Hs.736504;Hs.744864 1648002;1648178;1649653;1656065;1657123;2133069;5015861;5017170;5022578;7185938 A002H48;D10S16;D1S1423;D1S1893E;D1S2565;L29953;RH12898;SHGC-74106;SHGC-74113 DKFZp686M0869;FLJ34996;FLJ44537;KIAA0447;MGC104754;MGC117254;MGC126715;MGC138494 OTTHUMP00000000895;OTTHUMP00000039052;solute carrier family 35 member E2 protein-coding ENSG00000215790 HGNC:20863 15374 VALIDATED 1316221 SLC35B3 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 6 6 6 p24.3 9642577 9665073 - 8413301 8435794 - 8413067 8435567 - 1580863;6480464 10810093;12477932;14574404;15489334;16344560;16492677;16793546;17207965;20978009;21211351;24250222 51000 B2R8V5;B4E1Q6;Q9H1N7 AB231931;ABBA01022056;AF132953;AK303940;AK304250;AK313522;AL355815;AMYH02013069;BC006973;BX538271;BX641086;BX647208;BX648022;CH471087;DB188586;DB576665;DC357624;NM_001142541;NM_015948;NR_109913;NR_109914;XM_005249156;XM_005249157;XM_005249158;XM_006715102;XM_006715103;XM_006715104 AAD27728;AAH06973;ADQ31774;BAE93015;BAG36302;BAG64868;BAG65117;CAD98078;CAE46041;EAW55233;EAW55234;EAW55235;EAW55236;EAW55237;EAW55238;EAW55239;EAW55240;NP_001136013;NP_057032;Q9H1N7;XP_005249213;XP_005249214;XP_005249215;XP_006715165;XP_006715166;XP_006715167 Hs.285847 1697842;2108489;5014051;5014865;5015861;5022450;5022651;5024761;5115329;7185938 D10S16;D10S275;D11S2921;D12S1332;D8S2278;L18494;RH102447;RH36905;SLC35B3_8034 C6orf196;CGI-19;PAPST2 3' phosphoadenosine 5' phosphosulfate transporter 2;3'-phosphoadenosine 5'-phosphosulfate transporter;OTTHUMP00000016009;PAPS transporter 2;adenosine 3'-phospho 5'-phosphosulfate transporter 2;solute carrier family 35, member B3 APPROVED protein-coding ENSG00000124786 HGNC:21601 11577 610845 VALIDATED 4109106 SLC35E2B solute carrier family 35, member E2B FOUND IN integral component of membrane (inferred); INTERACTS WITH paracetamol; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p36.33 953254 984414 + 1591486 1624243 - 1659994 1692804 - 6480464 12477932;14702039;15489334;16344560;16710414;9455484 728661 P0CK96 AB007916;ABBA01016063;ABBA01016064;ABBA01016065;AK022944;AK092311;AK125619;AK307886;AL031282;AL049249;AL691432;AMYH02000108;BC010500;BC073811;BC092507;BC110653;BG328537;BQ446951;CH471183;CR936618;DA794179;DB450858;FO704657;NG_034044;NM_001110781;NM_001290264;XM_006710870;XM_006710871 AAI10654;BAA32292;BAG52529;BAG54222;CAI56761;EAW56156;NP_001104251;NP_001277193;P0CK96;XP_006710933;XP_006710934 Hs.655255 1648002;1648178;1649653;1656065;1657123;2119953;2133069;2218002;5015619;5021872 A002H48;D11S3114;D1S1893E;D1S2565;RH12898;SHGC-74089;SHGC-74106;SHGC-74113;SLC35E2_3751;sY3084 DKFZp564C093;DKFZp686M0869;FLJ43631;KIAA0447;MGC104754;MGC117254;SLC35E2 OTTHUMP00000096308;OTTHUMP00000096309;solute carrier family 35 member E2;solute carrier family 35 member E2B protein-coding ENSG00000189339 HGNC:33941 VALIDATED 1319077 SLC35B4 solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM, Mar 2008] 7 7 7 q33 128711529 128739279 - 133974089 134001827 - 134289337 134317075 - 1580863;6480464;8554872 12477932;12690205;14702039;15489334;15911612;16303743;16341674;16344560;16965264;21507882;21918738;8125298 84912 F8WAW0;Q969S0 AB052892;ABBA01001107;AC008154;AI274082;AI695174;AI948585;AJ315497;AJ315498;AJ971941;AK027603;AK027726;AK056475;AK075368;AK222874;AK307621;AMYH02016808;BC008413;BE894120;BI756619;BM458284;BM800938;BM806557;BQ082178;BX328982;BX646379;CH236950;CH471070;CS051163;DA208815;NM_032826 AAH08413;BAB55225;BAB55325;BAB61040;BAC11573;BAD96594;CAC84567;CAC84568;CAI72077;CAI98963;EAL24071;EAW83809;EAW83810;EAW83811;EAW83812;NP_116215;Q969S0 Hs.490181 2113712;2115784;2160392;2172093 AB060201;RH47519;RH47952;SGC32924 FLJ14697;YEA;YEA4 OTTHUMP00000207725;UDP-Xylose/N-Acetylglucosamine transporter;UDP-xylose and UDP-N-acetylglucosamine transporter;YEA4 homolog;solute carrier family 35, member B4 APPROVED protein-coding ENSG00000205060 HGNC:20584 11578 610923 VALIDATED 1602959 SLC35E4 solute carrier family 35, member E4 FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH cisplatin; copper(2+) sulfate; diazinon 22 22 22 q12.2 14831889 14843953 + 31031793 31043862 + 30635806 30647875 + 6480464 12477932;15461802;21906983 339665 H7C3S2;Q6ICL7 ABBA01055303;AC005006;AMYH02038218;BC040191;BC093099;BC107119;CH471095;CR456351;NM_001001479 AAH40191;AAH93099;AAI07120;CAG30237;CAK54492;CAK54791;EAW59912;NP_001001479;Q6ICL7 Hs.660384 2149695 STS-AA010644 MGC129826 OTTHUMP00000199169;solute carrier family 35 member E4 protein-coding ENSG00000100036 HGNC:17058 15376 PROVISIONAL 1318491 SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 1 1 1 p21 98691115 98744765 + 100435345 100492535 + 99968955 100026979 + 1580863;6480464;8699517;7240710 10393322;11752456;12477932;16344554;16691598;1736542;21906983;21963094;21988832;23089177;23583405;24031089;2829950;3099781;3264072;8093218 23443 C9JW63;E9PPQ9;Q9Y2D2 AB021981;ABBA01045446;ABBA01045447;AC118553;AK024989;AK290573;AMYH02001552;AV698459;BC005136;CH471097;CR749816;NG_033857;NM_001271684;NM_001271685;NM_012243;XM_005270691;XM_005270693;XM_006710516;XM_006710517 AAH05136;BAA77841;BAF83262;CAH18676;EAW72977;EAW72978;EAW72979;NP_001258613;NP_001258614;NP_036375;Q9Y2D2;XP_005270748;XP_005270750;XP_006710579;XP_006710580 Hs.448979;Hs.534953 1676658;1856991;1858216;2170093;5015861;5016478;5022200;5022450;5022463;5022578;5037552;7185938 AL009729;D10S16;D10S275;D1S1423;D3S1673;D8S2279;G31442;GDB:434012;L18426;RH93267;SHGC-75222 AMRS;DKFZp781P1297 OTTHUMP00000012506;OTTHUMP00000012507;OTTHUMP00000012508;OTTHUMP00000012509;OTTHUMP00000231651;UDP-N-acetylglucosamine transporter;golgi UDP-GlcNAc transporter;solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3;solute carrier family 35 member A3 protein-coding ENSG00000117620 HGNC:11023 10413 605632;615553 REVIEWED 1319816 SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1 This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 11 11 11 p11.2 45973214 45982158 + 45825623 45834568 + 45804072 45813016 + 1599002;1580863;6480464;7240710;8554872;8699517 11326280 11326279;12406889;12477932;14702039;15489334;16344560;16455955;17207965;17884843;20301507;22134107;22492235;22589738;23730929;24144296;8125298 55343 B3KQH0;E9PPI4;E9PS26;Q96A29 ABBA01060759;AC044839;AF323970;AF326199;AK000527;AK002182;AK027394;AK027747;AK074929;AK091245;AK225428;AK315473;AL547030;AMYH02024693;BC001427;CH471064;CQ783756;DB287838;GM744699;NG_009875;NM_001145265;NM_001145266;NM_018389 AAH01427;AAK50397;AAK51705;ADQ32732;BAA92126;BAB55080;BAB55339;BAG37859;BAG52032;BAG52316;CAF86846;CAV31712;EAW68031;EAW68032;EAW68033;NP_001138737;NP_001138738;NP_060859;Q96A29 Hs.12211 1716623;2149469;2158387 RH11570;RH121568;RH64851 CDG2C;FLJ11320;FLJ14841;FUCT1 GDP-fucose transporter 1;OTTHUMP00000233118;OTTHUMP00000233119;solute carrier family 35, member C1 APPROVED protein-coding ENSG00000181830 HGNC:20197 09324 266265;605881 REVIEWED 1353208 SLC35F1 solute carrier family 35, member F1 INVOLVED IN transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); choline (ortholog) 6 6 6 q22.31 118971646 119382119 + 118228689 118638839 + 117907526 118317676 + 6480464;8554872 12477932;14702039;19305408;19584346;19587794;20200953;20379614;20639392;23400010;23583979 222553 Q5T1Q4 ABBA01026028;ABBA01026029;ABBA01026030;ABBA01026031;AK092207;AK128717;AK295860;AL133379;AL136478;AL449196;AL450405;AL590621;AMYH02014364;AMYH02014365;AMYH02014366;AMYH02014367;BC028615;BC036493;BC114925;BX640761;CH471051;KF458261;NM_001029858;XM_005266865;Z95326 AAH28615;AAH36493;AAI14926;BAG54715;BAG58664;CAE45867;CAI16177;EAW48199;EAW48200;NP_001025029;Q5T1Q4;XP_005266922 Hs.654841 1647884;1649331;1666437;1709154;1710664;1717785;1755295;1768013;1780184;2145039;5014051;5021453;5021884;5022578;5037552 A008R47;AL020969;D1S1423;D6S1075;D6S1954;D6S1997;D8S2278;D8S2279;RH121802;SHGC-142186;SHGC-154554;SHGC-79599;SHGC-85738;STS-N66295;ha2102 C6orf169;FLJ13018;dJ230I3.1 OTTHUMP00000017091;solute carrier family 35 member F1 protein-coding ENSG00000196376 HGNC:21483 18751 VALIDATED 732825 SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010] 3 3 3 q25.31 153965573 153993678 - 155544300 155572248 - 155826511 155854459 - 1580863;6480464;6907045;7240710;8554872;8699517 12477932;12739170;15489334;19061983;19946888;20301682;20306460;20461110;20826464;21890473;21906983;21963094;22243965;22787145;22797925;9096318 9197 H7C532;H7C562;H7C577;O00400 ABBA01058850;AC104472;AK312268;AMYH02007963;AMYH02007964;AMYH02007965;BC014416;CH471052;D88152;NG_023365;NM_001190992;NM_004733;XM_006713822 AAH14416;ABM82633;ABM85811;BAA20072;BAG35199;EAW78743;EAW78744;NP_001177921;NP_004724;O00400;XP_006713885 Hs.478031 1666636;1739049;1856187;2106621;2123271 D3S3246;G30389;SHGC-77470;SHGC-77475;SLC33A1_3924 AT-1;AT1;CCHLND;SPG42 ACATN;OTTHUMP00000212981;OTTHUMP00000212982;OTTHUMP00000212983;acetyl-CoA transporter 1;acetyl-coa transporter;acetyl-coenzyme A transporter 1;solute carrier family 33 member 1;spastic paraplegia 42 (autosomal dominant) APPROVED protein-coding ENSG00000169359 HGNC:95 04734 603690;612539;614482 REVIEWED 1351439 SLC35F4 solute carrier family 35, member F4 INVOLVED IN transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH paracetamol (ortholog); potassium dichromate (ortholog) 14 14 14 q22.2 38080673 38113630 - 58030640 58332592 - 57563922 57865874 - 6480464;8554872 12477932;17554300;20889312;21254220 341880 A4IF30;G3V2S4;G3V4Z9;H0YJV4 ABBA01018241;ABBA01018242;ABBA01018243;ABBA01018244;AL049838;AL132668;AL136520;AL161804;AMYH02029262;AMYH02029263;AMYH02029264;AMYH02029265;AMYH02029266;BC101318;BC101319;BC101320;BC101321;BX107164;KF455897;KF455899;NM_001206920 A4IF30;AAI01319;AAI01321;AAI01322;NP_001193849 Hs.28280 1787664;2172119 RH15698;SHGC-156148 C14orf36;FLJ37712;c14_5373 OTTHUMP00000245812;OTTHUMP00000245823;solute carrier family 35 member F4 protein-coding ENSG00000151812 HGNC:19845 VALIDATED 1347980 SLC35F3 solute carrier family 35, member F3 INVOLVED IN thiamine transport; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); ethyl methanesulfonate 1 1 1 q42.2 207636740 207731155 + 234040679 234460262 + 233904933 234324516 + 1580863;6480464;8554872 12477932;14702039;19913121;20379614;20628086;21963094;23000965 148641 Q8IY50 ABBA01033083;ABBA01033084;ABBA01033085;ABBA01033086;ABBA01033087;ABBA01033088;ABBA01033089;ABBA01033090;ABBA01033091;ABBA01033092;ABBA01033093;ABBA01033094;AK095031;AL122008;AL672045;AL713868;AMYH02002918;AMYH02002919;AMYH02002920;AMYH02002921;AMYH02002922;AMYH02002923;BC037878;BX005090;CH471098;DB468252;HY303761;KF455163;KF455165;KF455166;NM_001300845;NM_173508;XM_005273070 AAH37878;BAC04479;EAW69991;NP_001287774;NP_775779;Q8IY50;XP_005273127 Hs.158748 1335412;1655947;1660034;1687073;1716295;1716389;1726441;1763653;1766229;1853798;2120136;2137225;2137276;2138866;2185072;2218004 AL009393;AL009446;AL009849;AL009917;AL009932;AL009946;D1S2800;G09521;G09816;G62600;RH121177;RH121375;RH98329;SHGC-147339;SHGC-149590;SLC35F3_3714 FLJ37712 OTTHUMP00000036032;OTTHUMP00000063513;solute carrier family 35 member F3 protein-coding ENSG00000183780 HGNC:23616 15378 VALIDATED 1319452 SLC35F6 solute carrier family 35, member F6 INVOLVED IN negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; positive regulation of cell proliferation; FOUND IN extracellular vesicular exosome; lysosomal membrane; mitochondrion; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 2 2 2 p23.3 26833199 26850160 + 26987131 27004099 + 26764274 26781231 + 737633;6480464 12477932 12975309;14702039;15489334;15815621;15911612;16169070;16303743;17897319;18029348;19056867;19154410;19322201;21139048;21674799;21890473;23000965;8125298 54978 B4DLH2;F8WB19;F8WCT7;Q8N357 ABBA01045188;AC011740;AK000562;AK025889;AK075164;AK222929;AK296996;AK299598;AMYH02003466;AY358820;BC005887;BC011013;BC016389;BC028081;BC035519;BX647807;BX648017;CH471053;CR457243;NM_017877 AAH28081;AAQ89179;AAX93265;AAX93266;BAA91255;BAC11445;BAD96649;BAG59534;BAG61529;CAG33524;EAX00673;EAX00674;EAX00675;EAX00676;NP_060347;Q8N357 Hs.1594;Hs.516034 1857416;2138606;2170791;5014563;5015879;5016478;5017266;5022578;5022651 A007A23;D11S2921;D1S1423;D2S2602;D2S2929;GDB:314949;GDB:434012;L17676;L18506 ANT2BP;C2orf18;FLJ20555;TANGO9 ANT2-binding protein;OTTHUMP00000158508;solute carrier family 35 member F6;transmembrane protein C2orf18;transport and golgi organization 9 homolog APPROVED protein-coding ENSG00000213699 HGNC:26055 12808 VALIDATED 1344599 SLC35F2 solute carrier family 35, member F2 INVOLVED IN transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; bisphenol A 11 11 11 q22.3 104816599 104884333 - 107661717 107729914 - 107790991 107859188 - 6480464;8554872 12477932;14702039;16344560;19322201;20379614;21139048;21874247;21890473;21906983;23000965;23453885;9119394 54733 B4DUB9;E9PJD1;E9PKZ2;E9PRY2;Q8IXU6 ABBA01039876;AK023080;AK128062;AK300582;AL833969;AMYH02025534;AMYH02025535;AMYH02025536;AMYH02025537;AP001024;AY078178;BC013022;BC039195;BC048302;CH471065;DA840333;DC352180;NM_017515;X99961;XM_005271598 AAH39195;AAH48302;AAL82572;BAB14394;BAC87256;BAG62281;CAA68226;CAI46204;EAW67095;EAW67096;EAW67097;EAW67098;EAW67099;NP_059985;Q8IXU6;XP_005271655 Hs.524014 1649551;2184723;2184725;2220620;5491433 D11S4652;MARC_11837-11838:1029348695:1;RH12476;RH48962;UniSTS:486077 DKFZp667H1615;FLJ13018;HSNOV1 OTTHUMP00000232730;OTTHUMP00000232731;OTTHUMP00000232733;OTTHUMP00000232734;lung squamous cell cancer related protein LSCC-3;solute carrier family 35 member F2 protein-coding ENSG00000110660 HGNC:23615 15377 VALIDATED 1354059 SLC35G1 solute carrier family 35, member G1 INVOLVED IN calcium ion export from cell; cytosolic calcium ion homeostasis; FOUND IN endoplasmic reticulum membrane; plasma membrane; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; all-trans-retinoic acid 10 10 10 q23.33 89393872 89402633 + 95653730 95663581 + 93893973 93902734 + 737633;6480464 12477932 14702039;15164054;15489334;19322201;21569384;24250222 159371 D3DR41;Q2M3R5;S4R2Y7 ABBA01021866;AK091309;AL138923;AMYH02023564;BC036382;BC041432;BC047102;BC104814;BC143283;BC143284;CH471066;NM_001134658;NM_153226 AAH41432;AAI04815;AAI43284;AAI43285;BAC03633;EAW50046;EAW50047;EAW50048;EAW50049;NP_001128130;NP_694958;Q2M3R5 Hs.632085;Hs.744369 1664087;1701418 RH104340;WI-14114 C10orf60;FLJ33990;TMEM20 OTTHUMP00000020123;solute carrier family 35 member G1;transmembrane protein 20 APPROVED protein-coding ENSG00000176273 HGNC:26607 15531 VALIDATED 1350379 SLC35G3 solute carrier family 35, member G3 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); paracetamol (ortholog) 17 17 17 q12 30429712 30431585 - 33519539 33521412 - 35192520 35194393 - 1580863;6480464 12477932;14702039;17101974 146861 Q8N808 ABBA01011228;AC022916;AK097473;AMYH02033345;BC136422;BC140700;CH471147;NM_152462 AAI36423;AAI40701;BAC05067;EAW80161;NP_689675;Q8N808 Hs.514814 5493395 UniSTS:485979 AMAC1;FLJ40154;TMEM21A OTTHUMP00000163850;acyl-malonyl condensing enzyme 1;acyl-malonyl-condensing enzyme 1;solute carrier family 35 member G3;transmembrane protein 21A APPROVED protein-coding ENSG00000164729 HGNC:26848 12450 VALIDATED 1344227 SLC35G4 solute carrier family 35, member G4 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); paracetamol (ortholog) 18 18 p11.21 11609557 11610611 + 11609558 11610612 + 6480464 17101974 646000 P0C7Q5 ABBA01073994;AMYH02034314;AP001017;AP001120;NM_001282300 NP_001269229;P0C7Q5 AMAC1L1;SLC35G4;SLC35G4P acyl-malonyl condensing enzyme 1-like 1;acyl-malonyl-condensing enzyme 1-like protein 1;putative solute carrier family 35 member G4;putative solute carrier family 35 member G4 pseudogene;solute carrier family 35 member G4;solute carrier family 35, member G4, pseudogene APPROVED protein-coding ENSG00000236396 HGNC:31043 VALIDATED 1345092 SLC35G6 solute carrier family 35, member G6 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); paracetamol (ortholog) 17 17 17 p13.1 7410995 7412657 + 7370504 7386383 + 7481402 7483064 + 6480464;8554872 17101974;18950845 643664 P0C7Q6 ABBA01054870;AC113189;AMYH02032905;NG_027747;NM_001102614 NP_001096084;P0C7Q6 Hs.632234 AMAC1L3;TMEM21B acyl-malonyl condensing enzyme 1-like 3;acyl-malonyl-condensing enzyme 1-like protein 3;solute carrier family 35 member G6;transmembrane protein 21B APPROVED protein-coding HGNC:31351 VALIDATED 1605928 SLC35G5 solute carrier family 35, member G5 This gene is intronless and probably arose from retrotransposition of a similar gene. It has high sequence similarity to the gene encoding acyl-malonyl condensing enzyme on chromosome 17. [provided by RefSeq, Aug 2011] 8 8 8 p23.1 10316520 10317720 + 11188495 11189695 + 11330986 11332186 + 6480464;8554872 11896452;12477932;17101974;19060906;20160193;20571754;20972250 83650 Q96KT7 ABBA01026881;AF131216;AJ291677;AMYH02017438;BC131696;CH471157;NM_054028 AAI31697;CAC82744;EAW65610;NP_473369;Q96KT7 Hs.458397 AMAC;AMAC1L2 OTTHUMP00000115812;acyl-malonyl condensing enzyme 1-like 2;acyl-malonyl-condensing enzyme 1-like protein 2;solute carrier family 35 member G5 APPROVED protein-coding ENSG00000177710 HGNC:15546 09796 615199 REVIEWED 1352847 SLC35E3 solute carrier family 35, member E3 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 12 12 12 q15 68803409 68823329 + 69139910 69159853 + 68746130 68766073 + 6480464;8554872 12477932;12975309;17207965;20139978;23824909;24250222 55508 H0Y691;Q7Z769 AA491309;ABBA01026552;AC124890;AF148713;AK289645;AMYH02026699;AY358943;BC008412;BC021103;BC030504;BC049192;BE540822;BF971234;CH471054;NM_018656;W00476;XM_005269006;XM_006719475 AAF73127;AAH08412;AAH21103;AAH30504;AAH49192;AAQ89302;ADQ32991;BAF82334;EAW97196;EAW97197;EAW97198;NP_061126;Q7Z769;XP_005269063;XP_006719538 Hs.506011 1700612;2123834;2128068;5015961;5020948;5022651 D11S2921;D15S1477;G31524;G35510;RH103928;RH69332 BLOV1 OTTHUMP00000240637;bladder cancer overexpressed protein;bladder cancer-overexpressed gene 1 protein;solute carrier family 35 member E3;solute carrier family 35, member E2 protein-coding HGNC:20864 15375 VALIDATED 1317716 SLC35F5 solute carrier family 35, member F5 INVOLVED IN transport (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-fluorouracil; benzo[a]pyrene diol epoxide I 2 2 2 q14.1 107786371 107828842 - 114471354 114514400 - 113712792 113756823 - 1580863;6480464 12477932;12975309;21139048;21963094 80255 B8ZZV6;B8ZZY4;H7C0S5;H7C2I7;Q8WV83 ABBA01045988;AC017074;AF529364;AK024666;AK025657;AK315719;AMYH02004600;AW078854;AY358620;BC018537;BC050096;CH471103;NM_025181;NR_104470;XM_005263799;XM_005263800;XR_427114 AAH18537;AAQ09598;AAQ88983;AAY14808;BAB14954;BAB15206;BAG38077;EAW95174;EAW95175;EAW95176;EAW95177;NP_079457;Q8WV83;XP_005263856;XP_005263857 Hs.608286;Hs.632527 1679491;1693464;1728613;1755681;2108493 G63598;RH45879;SHGC-142524;SHGC-59111;SLC35F5_8097 FLJ22004 HCV NS5A-transactivated protein 3;OTTHUMP00000162050;OTTHUMP00000203796;hepatitis C virus NS5A-transactivated protein 3;solute carrier family 35 member F5 protein-coding ENSG00000115084 HGNC:23617 11579 VALIDATED 736301 SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1 This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. [provided by RefSeq, Jul 2008] 5 5 5 q33.1 146908547 146953349 + 150816553 150871940 + 151436992 151517446 + 633316;1580863;6480464;8554872 11390972 11076863;11230166;11256614;11959859;12477932;12527723;12598615;12809675;14702039;15058382;15489336;15521011;15754324;16331283;16341674;16381901;17050537;17897319;18195088;18230330;19074966;19358571;19409386;19549785;20498635;22574197;22853447;22975709;23488788;23962042 206358 E5RG64;E5RHG5;E5RI40;E7EW39;H0YB60;H0YBS2;Q7Z2H8 ABBA01026262;AC011337;AC034205;AF516142;AK000729;AK025102;AK057340;AK309323;AL833703;AMYH02012469;AMYH02012470;AMYH02012471;AY162213;AY227111;AY227112;AY227113;BC136437;BC136438;BK001052;BM787446;BX537963;CH471062;GU296670;NM_078483;XM_005268386;XM_006714759;XM_006714760 AAI36438;AAI36439;AAI46686;AAO11787;AAO37091;AAO37092;AAO37093;AAP47194;ACE86861;ACE87549;ADB56966;BAB71435;CAD97927;CAL38601;DAA01126;EAW61674;EAW61675;EAW61676;EAW61677;NP_510968;Q7Z2H8;XP_005268443;XP_006714822;XP_006714823 Hs.269004 1668679;1682385;1721461;1740369;1764921;2108495;2140048;2141467 D5S1838;D5S1938;D5S2195E;G59583;SGC35164;SHGC-148481;SLC36A1_8157;WIAF-2087 Dct1;LYAAT1;PAT1;TRAMD3;hPAT1 OTTHUMP00000160620;OTTHUMP00000224120;OTTHUMP00000224123;lysosomal amino acid transporter 1;proton-coupled amino acid transporter 1;proton/amino acid transporter 1;solute carrier family 36 member 1;ysosomal amino acid transporter 1 APPROVED protein-coding ENSG00000123643 HGNC:18761 07584 606561 REVIEWED 1314532 SLC35G2 solute carrier family 35, member G2 FOUND IN Golgi apparatus; plasma membrane; INTERACTS WITH 2-methylcholine; aflatoxin B1; benzo[a]pyrene 3 3 3 q22.3 134964163 135001036 + 136537861 136574734 + 136819019 136855892 + 737633;1580863;6480464 12477932 11076863;11230166;11256614;15489334;15489336;16169070;16381901;16712791;17081983;19148500;20237496 80723 Q8TBE7 ABBA01059108;ABBA01059109;AC011597;AC096992;AK314079;AL136661;AMYH02007749;AMYH02007750;BC000111;BC022557;BC050423;BI962644;CB123281;CH471052;NM_001097599;NM_001097600;NM_025246;XM_006713773;XM_006713774 AAH00111;AAH22557;BAG36777;CAB66596;CAL37816;CAL38252;EAW79111;EAW79112;EAW79113;NP_001091068;NP_001091069;NP_079522;Q8TBE7;XP_006713836;XP_006713837 Hs.477692 1649908;1684660;1735294;1748465;1851520;2147314;5019727 A009K39;D3S2936E;G32625;RH44736;RH80984;SHGC-64775;STS-N27030 DKFZp564K2464;MGC3295;TMEM22 OTTHUMP00000216499;OTTHUMP00000216500;solute carrier family 35 member G2;transmembrane protein 22 APPROVED protein-coding ENSG00000168917 HGNC:28480 15532 VALIDATED 1318445 SLC37A1 solute carrier family 37 (glucose-6-phosphate transporter), member 1 SLC37A1, a member of the sugar-phosphate transport family, transports glycerol-3-phosphate (G3P) between cellular compartments for its utilization in several compartment-specific biochemical pathways.[supplied by OMIM, Jul 2004] 21 21 21 q22.3 29068693 29150480 + 43919742 44001550 + 42499629 42581440 + 1580863;6480464 10830953;11112347;14702039;15862967;16009131;19946888;21949678 54020 P57057 ABBA01004540;ABBA01004541;ABBA01004542;AF311320;AJ269529;AJ277912;AJ277913;AK025993;AK123644;AL355683;AMYH02037873;AP001625;AW466890;BC042139;BI912541;CH471079;KF457327;KF457330;NG_033931;NM_018964;XM_005261139;XM_005261140;XM_005261141;XM_005261142;XM_006724014;XM_006724015;XM_006724016 AAG29853;AAI48369;AAI52998;CAB87248;CAB91985;CAB91986;EAX09552;EAX09553;NP_061837;P57057;XP_005261196;XP_005261197;XP_005261198;XP_005261199;XP_006724077;XP_006724078;XP_006724079 Hs.547009 1661795;1662712;1685083;1688058;1730708;1758297;1766503;1784436;2131157;2173337;2189985;5014053;7186555 99-2525;D1S3693;D21S1831;D21S358;G34680;RH41909;RH45258;SHGC-147977;SHGC-147978;SHGC-149823;SHGC-6858;WI-17658 FLJ22340;G3PP G-3-P permease;G-3-P transporter;OTTHUMP00000109360;OTTHUMP00000109362;glycerol-3-phosphate permease;glycerol-3-phosphate transporter;solute carrier family 37 (glycerol-3-phosphate transporter), member 1;solute carrier family 37 member 1 APPROVED protein-coding ENSG00000160190 HGNC:11024 10479 608094 REVIEWED 1313712 SLC37A2 solute carrier family 37 (glucose-6-phosphate transporter), member 2 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN carbohydrate transport (inferred); transmembrane transport (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 11 11 11 q24.2 122093053 122120452 + 124932963 124960412 + 125063067 125090516 + 6480464 12477932;12811562;19199708;21949678 219855 E9PRJ4;Q8TED4 ABBA01031248;AF318322;AK074100;AK074207;AK290314;AK296975;AMYH02025732;AP001007;AP003172;BC051314;BC062990;CH471065;NM_001145290;NM_198277;XR_246418 AAH51314;AAH62990;AAL55829;BAB84926;BAB85016;BAF83003;BAH12466;EAW67619;EAW67620;EAW67621;EAW67622;NP_001138762;NP_938018;Q8TED4 Hs.352661 1645336;1737023;1766065;5022651;5037552;5109281 D11S2413;D11S2773;D11S2921;D1S1425;D8S2279;SHGC-149448 FLJ00171;MGC71430;pp11662 OTTHUMP00000231401;OTTHUMP00000231403;solute carrier family 37 (glycerol-3-phosphate transporter), member 2;solute carrier family 37 member 2;sugar phosphate exchanger 2 APPROVED protein-coding HGNC:20644 15380 VALIDATED 1321198 SLC37A3 solute carrier family 37, member 3 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN carbohydrate transport (inferred); transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-pilocarpine (ortholog); (S)-nicotine (ortholog); 2,2',5,5'-tetrachlorobiphenyl (ortholog) 7 7 7 q34 134755301 134820377 - 140033552 140104024 - 140333752 140398550 - 6480464 11230166;12477932;12690205;12811562;21752829;21988832;8889548;9847074 84255 B4DTL4;C9J4S7;C9JZ37;F8WAR9;F8WC97;F8WF28;H7C4I4;H7C4J2;H7C4J3;H7C4J5;H7C4U0;H7C4U5;H7C4Z5;H7C594;H7C5E7;H7C5T4;Q8NCC5 ABBA01034062;ABBA01034063;ABBA01034064;ABBA01034065;AC093087;AK074823;AK126589;AK131347;AK296543;AK299276;AK300265;AL136583;AMYH02016902;AMYH02016903;BC028380;BC046567;BM669953;CD101739;CH236950;CH471070;CQ834428;CQ834542;DB481623;NM_001287498;NM_032295;NM_207113 AAH28380;AAH46567;AAQ93361;ACE86951;ACE86981;ACE87642;ACE87670;ADR82761;BAC11231;BAG54349;BAG59167;BAG61295;BAG62026;CAB66518;CAH05429;CAH05486;EAL24030;EAL24031;EAW83943;EAW83944;EAW83945;EAW83946;EAW83947;NP_001274427;NP_115671;NP_996996;Q8NCC5 Hs.446021;Hs.738791 1665913;1677911;1686516;1701000;5024545;5037552 D1S3695;D8S2279;RH104127;RH80207;SHGC-24030;SHGC-32230 FLJ16367;MGC32939 OTTHUMP00000211976;OTTHUMP00000211977;OTTHUMP00000211978;OTTHUMP00000211979;solute carrier family 37 (glycerol-3-phosphate transporter), member 3;solute carrier family 37 member 3;sugar phosphate exchanger 3 APPROVED protein-coding ENSG00000157800 HGNC:20651 15381 VALIDATED 1354285 SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2 This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010] 5 5 5 q33.1 146775913 146808530 - 150694539 150727151 - 151314978 151347590 - 6480464;7240710;8554872;8699517 11959859;12477932;12809675;14600155;15058382;18195088;19033659;19056867;19240061;19845895 153201 E5RGH8;E5RJJ5;H0YB43;Q495M3 ABBA01026263;AC008385;AK297682;AK309575;AMYH02012464;AY162214;AY228364;BC101100;BC101101;BC101102;BC101103;BX538285;CH471062;DC362112;NG_027745;NM_181776;XM_005268377;XM_006714756 AAI01101;AAI01102;AAI01103;AAI01104;AAO11788;AAO74832;BAG60042;EAW61678;NP_861441;Q495M3;XP_005268434;XP_006714819 Hs.483877 1780982;1858214;2108497;2168571;5015961;5022322;5037552 D11S2560;D15S1477;D5S587;D8S2279;G16919;SLC36A2_8149;bac5574S FLJ16051;MGC119658;MGC119660;PAT2;TRAMD1 OTTHUMP00000160624;OTTHUMP00000224111;proton-coupled amino acid transporter 2;proton/amino acid transporter 2;solute carrier family 36 member 2;solute carrier family 36, member 2;tramdorin;tramdorin-1 APPROVED protein-coding ENSG00000186335 HGNC:18762 12215 138500;242600;608331 REVIEWED 1601937 SLC38A10 solute carrier family 38, member 10 INVOLVED IN amino acid transport (inferred); bone development (inferred); sodium ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus; INTERACTS WITH atrazine; copper(2+) sulfate; lead(0) 17 17 17 q25.3 75849343 75903449 - 79218799 79269233 - 81244811 81295433 - 6480464;8554872 12477932;14702039;20834067;21906983;23382691 124565 F5H3T4;H0YF92;H0YGS1;I3L0Q8;Q9HBR0 ABBA01032134;ABBA01032135;ABBA01032136;AC027601;AF086389;AI476273;AK093037;AK128263;AMYH02034123;AMYH02034124;BC007391;BC011702;BC014156;BC014642;BC020925;BI194553;BM129331;BQ642219;BU552914;CA416101;CA447446;CH471099;HY036951;JC034843;NM_001037984;NM_138570;XM_005257019 AAH14642;AAH20925;BAC04027;CDL93555;EAW89641;EAW89642;EAW89643;NP_001033073;NP_612637;Q9HBR0;XP_005257076 Hs.352240 1689929;1776102;5014051;5015619;5037552 D11S3114;D8S2278;D8S2279;RH92126;STS-T49250 FLJ35718;FLJ46399;MGC15523;PP1744 OTTHUMP00000237711;OTTHUMP00000237713;putative sodium-coupled neutral amino acid transporter 10;solute carrier family 38 member 10 protein-coding ENSG00000157637 HGNC:28237 17506 VALIDATED 1605863 SLC38A11 solute carrier family 38, member 11 INVOLVED IN amino acid transport (inferred); sodium ion transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 q24.3 159365443 159422633 - 165754709 165812035 - 164898199 164955525 - 6480464 12477932;14702039;20379614 151258 B8ZZ86;H7C1P1;Q08AI6 ABBA01004912;AC019197;AK097141;AK293998;AMYH02005125;BC125156;BC125157;CH471058;NM_001199148;NM_173512;XM_005246350;XM_006712337;XM_006712338;XM_006712339;XM_006712340 AAI25158;AAY14946;BAC04962;BAG57360;EAX11337;NP_001186077;NP_775783;Q08AI6;XP_005246407;XP_006712400;XP_006712401;XP_006712402;XP_006712403 Hs.658702 1657841;1663466;1669018;1855872 G28400;G29523;RH46112;RH78736 AVT2;FLJ39822;MGC150450 OTTHUMP00000163013;OTTHUMP00000204829;OTTHUMP00000204830;OTTHUMP00000204831;putative sodium-coupled neutral amino acid transporter 11;solute carrier family 38 member 11 protein-coding ENSG00000169507 HGNC:26836 08267 VALIDATED 1319236 SLC36A3 solute carrier family 36, member 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog) 5 5 5 q33.1 146737294 146764697 - 150655926 150683334 - 151276365 151303782 - 6480464;8554872 12477932;12809675;15058382;19910524 285641 Q495N2 ABBA01026263;AC008385;AK127978;AK131483;AMYH02012464;AY162215;AY228365;BC101092;BC101093;BC101094;BC101095;CH471062;NM_001145017;NM_181774;XM_006714781;XR_427775 AAI01093;AAI01094;AAI01095;AAI01096;AAO11789;BAC87215;BAD18628;EAW61679;NP_001138489;NP_861439;Q495N2;XP_006714844 Hs.720893 1687051 RH92822 FLJ16658;MGC119638;MGC119639;MGC119641;PAT3;TRAMD2;tramdorin2 OTTHUMP00000160623;OTTHUMP00000224128;proton-coupled amino acid transporter 3;proton/amino acid transporter 3;solute carrier family 36 (proton/amino acid symporter), member 3;solute carrier family 36 member 3;tramdorin 2;tramdorin-2 APPROVED protein-coding ENSG00000186334 HGNC:19659 12216 608332 VALIDATED 730997 SLC38A3 solute carrier family 38, member 3 ENCODES a protein that exhibits L-alanine transmembrane transporter activity; L-asparagine transmembrane transporter activity; L-glutamine transmembrane transporter activity; INVOLVED IN asparagine transport; glutamine transport; histidine transport; PARTICIPATES IN glutamate signaling pathway; FOUND IN plasma membrane; integral component of plasma membrane (ortholog); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 3 3 3 p21.3 50215521 50231235 + 50242692 50258406 + 50205259 50220979 + 634178;1580863;6480464;6907045 10619430 10823827;11076863;11085536;11230166;11256614;12477932;12788082;15094455;15342556;15489334;15489336;16169070;16381901;16432833;16641997;18195088;19892400;20737472;21988832 10991 Q99624 ABBA01024553;AC002077;AF244548;AK293801;AK299677;AK313461;AMYH02006766;BC042875;BM662099;BP362985;BX537382;CH471055;CR456970;KF459627;NM_006841;U49082;XM_006712954 AAB47236;AAG15313;AAH42875;BAG36247;BAH11599;BAH13100;CAD97624;CAG33251;CAL37630;CAL38420;EAW65049;EAW65050;NP_006832;Q99624;XP_006713017 Hs.76460 1686114;1738909;1775689;1793470;2110745;2116095 D3S3181;PMC22669P16;RH65839;RH75882;SLC38A3_7985;STS-T62038 G17;NAT1;SN1 N-system amino acid transporter 1;Na(+)-coupled neutral amino acid transporter 3;sodium-coupled neutral amino acid transporter 3;system N amino acid transporter 1;system N1 Na+ and H+-coupled glutamine transporter protein-coding ENSG00000188338 HGNC:18044 11980 604437 VALIDATED 1323033 SLC36A4 solute carrier family 36 (proton/amino acid symporter), member 4 SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011] 11 11 11 q21 90179804 90230049 - 92880850 92931095 - 93144171 93197975 - 6480464;8554872 12477932;14702039;20498635;21097500;23251661;23719583;24250222 120103 E9PID7;E9PN09;Q6YBV0 ABBA01040051;ABBA01040052;ABBA01040053;AJ295983;AK093898;AK096251;AK096912;AMYH02025355;AP003072;AY162216;BC047374;CH471065;HY170772;NM_001286139;NM_152313;XM_005273758;XM_006718762;XM_006718763 AAH47374;AAO11790;ADZ15553;BAC04737;CAC82496;EAW66895;EAW66896;EAW66897;NP_001273068;NP_689526;Q6YBV0;XP_005273815;XP_006718825;XP_006718826 Hs.148766;Hs.596383 1671691;2108925;2133904;2169428 HSC2CA042;RH66340;SLC36A4_8132;WI-18662 FLJ38932;PAT4 OTTHUMP00000235803;OTTHUMP00000235804;OTTHUMP00000235805;proton-coupled amino acid transporter 4;proton/amino acid transporter 4;solute carrier family 36 member 4 APPROVED protein-coding ENSG00000180773 HGNC:19660 15379 613760 VALIDATED 1347009 SLC38A4 solute carrier family 38, member 4 SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008] 12 12 12 q13 45955607 46016842 - 47158544 47226205 - 46764761 46832422 - 1580863;6480464;8554872 11342143;11414754;12477932;12845534;14702039;15489334;16148032;16344560;16712791;18195088;18703994;19015196;21917917;22945694 55089 F8VQY9;F8VRD9;H0YHZ8;Q969I6 AB055003;ABBA01031460;AC008014;AC080136;AF193836;AF305814;AK001053;AK291168;AMYH02026411;AX328009;BC069819;BC101827;BC104913;CB164010;CH471111;DB139964;KF459548;NM_001143824;NM_018018;XM_005268997 AAH69819;AAI01828;AAI04914;AAK43528;AAK71508;BAA91481;BAB84090;BAF83857;CAD20438;EAW57917;EAW57918;EAW57919;EAW57920;NP_001137296;NP_060488;Q969I6;XP_005269054 Hs.446077 2110117;2110119;2179559;2183455 CH12SSR14;CH12SSR15;RH68486;SGC33305 ATA3;FLJ10191;MGC126876;NAT3;PAAT N amino acid transporter 3;Na(+)-coupled neutral amino acid transporter 4;OTTHUMP00000241405;OTTHUMP00000241406;amino acid transporter A3;amino acid transporter system A3;sodium-coupled neutral amino acid transporter 4;system A amino acid transporter 3;system N amino acid transporter 3 APPROVED protein-coding ENSG00000139209 HGNC:14679 12159 608065 VALIDATED 1321172 SLC38A6 solute carrier family 38, member 6 INVOLVED IN amino acid transport (inferred); sodium ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; cyclosporin A 14 14 14 q23.1 41498096 41600701 + 61447832 61550451 + 60981114 61083733 + 6480464;8554872 12477932;15342556;18029348;18976975;19322201;8619474;9110174 145389 E9PM79;E9PMA3;G3V3H5;H0YDY0;H0YE10;H0YEH3;H0YF42;H0YJ85;H0YJG2;H0YJU1;Q8IZM9 ABBA01018292;ABBA01018293;AF070578;AF543422;AK303839;AL160234;AL160236;AMYH02029304;AMYH02029305;AMYH02029306;AMYH02029307;BC050349;BC064429;BC110378;BP352279;BX248072;BX648332;CH471061;DC394244;DR002669;KF455909;NM_001172702;NM_153811;NR_033344;XM_006720046;XM_006720047;XM_006720048;XM_006720049;XM_006720050 AAI10379;AAN47144;BAG64783;CAD62361;EAW80793;EAW80794;EAW80795;EAW80796;EAW80797;EAW80798;NP_001166173;NP_722518;Q8IZM9;XP_006720109;XP_006720110;XP_006720111;XP_006720112;XP_006720113 Hs.200738 1705238;1776955;1847681 RH44909;SHGC-16536;SHGC-78107 MGC102697;NAT-1 N system amino acid transporter NAT-1;N-system amino acid transporter 1;Na(+)-coupled neutral amino acid transporter 6;OTTHUMP00000179047;OTTHUMP00000179048;probable sodium-coupled neutral amino acid transporter 6 protein-coding ENSG00000139974 HGNC:19863 15382 VALIDATED 1602480 SLC38A7 solute carrier family 38, member 7 ENCODES a protein that exhibits L-amino acid transmembrane transporter activity (ortholog); L-glutamine transmembrane transporter activity (ortholog); INVOLVED IN sodium ion transport (ortholog); FOUND IN axon (ortholog); neuronal cell body (ortholog); INTERACTS WITH cyclosporin A; methyl methanesulfonate; valproic acid 16 16 16 q21 43199597 43219111 - 58700298 58718674 - 58665109 58684770 - 6480464 12477932;14702039;19305408;21511949;8125298 55238 H3BMC5;H3BN87;H3BP25;H3BPK8;H3BPV9;H3BRZ0;H3BU46;H3BV81;Q9NVC3 ABBA01025312;AC010287;AK001677;AK022786;AK222932;AK299424;AMYH02032129;AMYH02032130;AMYH02032131;AMYH02032132;BC001961;BC063399;CH471092;CR457236;NM_018231;XM_006721229;XR_429722 AAH01961;BAA91830;BAB14244;BAD96652;BAG61404;CAG33517;EAW82985;EAW82986;EAW82987;NP_060701;Q9NVC3;XP_006721292 Hs.10499 1677208;1685690;5022651;5024541 D11S2921;D1S3688;RH80140;RH98256 FLJ10815;FLJ12724;SNAT7 OTTHUMP00000164727;amino acid transporter;putative sodium-coupled neutral amino acid transporter 7;solute carrier family 38 member 7 protein-coding HGNC:25582 07701 614236 PROVISIONAL 730905 SLC38A5 solute carrier family 38, member 5 The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Aug 2013] X X X p11.23 53337091 53348808 + 48316927 48328644 - 48458537 48470256 - 6480464;8554872 11243884;12477932;14702039;16344560;17333282;18195088;18418736;20972266;21890473;21906983;21987572;22382077;22939629;25015289 92745 C9JHH7;C9JJU1;C9JMY2;C9JNK4;C9JWG4;Q8WUX1 ABBA01045999;ABBA01046000;ABBA01046001;AF196972;AF276889;AF318358;AK094788;AL606490;AMYH02039304;AW183216;BC019246;BC027721;CH471224;DA089769;NG_021469;NM_033518;XM_005272694;XM_005272695;XM_005272696;XM_005272697;XM_005272698;XM_006724569;XM_006724570 AAH19246;AAH27721;AAK61856;AAL55865;ABM83986;ABM87311;BAG52932;EAW50785;EAW50786;EAW50787;EAW50788;EAW50789;EAW50790;NP_277053;Q8WUX1;XP_005272751;XP_005272752;XP_005272753;XP_005272754;XP_005272755;XP_006724632;XP_006724633 Hs.195155 1689953;1734338;2184138 DXS6949;G21700;RH93254 JM24;SN2;SNAT5;pp7194 OTTHUMP00000025789;OTTHUMP00000025791;OTTHUMP00000025793;OTTHUMP00000025794;sodium-coupled neutral amino acid transporter 5;solute carrier family 38 (amino acid transporter), member 5;system N transporter 2;transport system N, protein 2 APPROVED protein-coding ENSG00000017483 HGNC:18070 06718 300649 REVIEWED 1351082 SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009] 11 11 11 q23.3 116053114 116059668 - 118895061 118901616 - 119024351 119030906 - 1599000;1625641;6480464;7240710;8554872 10567346;9428641 10023055;10026167;10318794;10323254;10482875;10482962;10518030;10874322;10923042;10931421;11032333;11071391;11140953;11949931;12409273;12477932;12560945;15059622;15260472;15489334;15669677;15862967;15906092;16344560;16435186;16777101;17207965;17354259;17460777;18267120;19008136;19946888;20301489;20578944;212064;21446359;21575371;21906983;23965881;24250222;9463334;9598717;9675154;9758626;9781688;9822626;9856496;9925924 2542 A8K0S7;B4DUH2;O43826;U3KPU7;U3KQL4;U3KQS2;U3KQV0 AB209026;ABBA01039681;AF078163;AF097831;AF110819;AF110820;AF110821;AF110822;AF111852;AF116864;AK289642;AK294993;AK298395;AK300646;AK312628;AMYH02025659;AP003392;AY423732;BC002400;BC003589;BC014663;BC015650;BC064563;BM506735;CH471065;CR456733;DA485567;DC295438;NG_013331;NM_001164277;NM_001164278;NM_001164279;NM_001164280;NM_001467;Y15409;Y17864 AAC72916;AAD13111;AAD19898;AAF16691;AAF37735;AAF37736;AAH02400;AAH03589;AAH14663;AAH15650;AAH64563;AAS00495;ADQ32771;BAD92263;BAF82331;BAG60630;BAG62334;BAH11943;CAA75608;CAA76898;CAG33014;EAW67432;EAW67433;EAW67434;EAW67435;EAW67436;EAW67437;EAW67438;EAW67439;NP_001157749;NP_001157750;NP_001157751;NP_001157752;NP_001458;O43826 Hs.719203 1664130;1857772;2107605;5024543 A007J44;D1S3690;RH35862;SLC37A4_7228 G6PT1;G6PT2;G6PT3;GSD1b;GSD1c;GSD1d;MGC15729;PRO0685;TRG-19;TRG19 glucose-5-phosphate transporter;glucose-6-phosphatase, transport (glucose) protein 3;glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1;glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2;glucose-6-phosphate translocase;microsomal glucose-6-phosphate transporter;solute carrier family 37 member 4;transformation-related gene 19 protein APPROVED protein-coding ENSG00000137700 HGNC:4061 04052 232220;232240;602671 REVIEWED 735316 SLC38A1 solute carrier family 38, member 1 Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008] 12 12 12 q13.11 45374176 45460544 - 46576838 46663208 - 46183055 46269425 - 6480464;6907045;8554872 10891391;11325958;12477932;14702039;15054072;16303743;16344560;16516348;17549407;18195088;18703994;19442705;20308991;20379614;20599747;20605601;21139048;21219957;21890473;21906983;21963094;21987572;23408887;23848995;25015289;7750094;8125298 81539 F8VX04;F8VX12;Q9H2H9 AA740867;AA864710;ABBA01031455;AC016254;AC025031;AF247166;AF271070;AK024263;AK025900;AK027825;AK056670;AK074758;AK074797;AK074851;AK074949;AK130314;AK225639;AK225778;AK308129;AK309410;AK313731;AMYH02026405;AMYH02026406;BC010620;BQ019472;BX647547;BX648495;BX648676;CH471111;DB229647;NM_001077484;NM_001278387;NM_001278388;NM_001278389;NM_001278390;NM_030674;S77359 AAG39354;AAG44546;AAH10620;ABM81943;ABW03351;BAB55394;BAC11186;BAC11215;BAC11310;EAW57895;EAW57896;EAW57897;EAW57898;EAW57899;NP_001070952;NP_001265316;NP_001265317;NP_001265318;NP_001265319;NP_109599;Q9H2H9 Hs.533770 1648602;1659403;1712456;1739173;1769510;1775218;1852337;2125299;2125301;2155372;2218006 A005Y12;D12S1372;G20591;G54265;RH17801;RH66777;SGC31837;SLC38A1_3684;STS-W70087;WI-13331;WI-19766 ATA1;NAT2;SAT1;SNAT1 N-system amino acid transporter 2;OTTHUMP00000241206;OTTHUMP00000241207;OTTHUMP00000241208;OTTHUMP00000241209;OTTHUMP00000241210;amino acid transporter A1;amino acid transporter system A1;sodium-coupled neutral amino acid transporter 1;system A amino acid transporter 1;system N amino acid transporter 1 APPROVED protein-coding ENSG00000111371 HGNC:13447 12245 608490 VALIDATED 736694 SLC38A2 solute carrier family 38, member 2 ENCODES a protein that exhibits amino acid transmembrane transporter activity (inferred); symporter activity (inferred); INVOLVED IN amino acid transmembrane transport (inferred); amino acid transport (inferred); glutamate secretion (inferred); PARTICIPATES IN glutamate signaling pathway; FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; arsenite(3-); benzene 12 12 12 q 45549292 45563966 - 46751971 46766645 - 46358188 46372862 - 68920;1580863;6480464;6907045 10747860 10718198;10930503;12054432;12477932;14623874;14702039;15581851;15922329;15951569;16125834;16169070;16344560;16445384;16616430;16621798;16621896;17237199;18195088;18697751;18703994;19322201;19589777;19741197;20206993;20972266;21139048;21622135;21832049;21890473;21906983;21930789;21963094;21987572;22028413;22505724;22939629;23000965;23408887;23728383;25015289 54407 F8VQW8;F8VUY8;Q96QD8 AB037803;ABBA01031456;AC025031;AF116620;AF259799;AF298897;AJ344099;AK001700;AK172784;AK291644;AK293858;AMYH02026406;BC016909;BC029379;BC040342;CH471111;CR457267;DA725217;NM_018976;XM_005268983 AAF71044;AAG24618;AAH29379;AAH40342;AAK38510;ABM82727;ABM85911;BAA91846;BAA92620;BAD18765;BAF84333;BAG57253;CAC51434;CAG33548;EAW57900;EAW57901;EAW57902;NP_061849;Q96QD8;XP_005269040 Hs.221847 1644875;1649120;1663345;1778934;2156734 D12S2010;RH11173;RH17405;RH67932;WI-11919 ATA2;KIAA1382;PRO1068;SAT2;SNAT2 OTTHUMP00000241212;amino acid transporter 2;amino acid transporter A2;protein 40-9-1;sodium-coupled neutral amino acid transporter 2;system A amino acid transporter 2;system A transporter 1;system N amino acid transporter 2 protein-coding ENSG00000134294 HGNC:13448 05535 605180 VALIDATED 1604225 SLC38A9 solute carrier family 38, member 9 INVOLVED IN amino acid transport (inferred); sodium ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; copper(2+) sulfate 5 5 5 q11.2 51875777 51961881 - 54921673 55008163 - 55625845 55712335 - 6480464;8554872 12477932;14702039;16303743;20881960;23462296 153129 B3KVK8;D6R9Q7;D6R9X0;D6RBB9;D6RDH2;D6RE72;D6RER8;D6RG31;D6RHF5;D6RHW0;D6RIW7;E7ESU6;Q8NBW4 ABBA01015747;ABBA01015748;ABBA01015749;ABBA01015750;AC008784;AC016632;AI580489;AK075190;AK122957;AK127988;AK301850;AMYH02011318;AMYH02011319;BC036232;BC045589;BC066891;BC101361;BC101362;BU632379;BX641065;CH471123;CQ783277;CQ834820;DC371481;NM_001258286;NM_001258287;NM_001282429;NM_173514;NR_047649;XM_006714537;XM_006714538;XM_006714539;XM_006714540;XM_006714541;XM_006714542;XR_427705;XR_427706 AAH66891;AAI01363;BAC11460;BAG53820;BAG54613;BAH13566;CAE46032;CAF86482;CAH05625;EAW54925;EAW54926;EAW54927;EAW54928;NP_001245215;NP_001245216;NP_001269358;NP_775785;Q8NBW4;XP_006714600;XP_006714601;XP_006714602;XP_006714603;XP_006714604;XP_006714605 Hs.745105 1339106;1785318 D5S664;SHGC-111499 FLJ46104;FLJ90709;MGC120544 OTTHUMP00000161835;OTTHUMP00000221658;OTTHUMP00000221768;OTTHUMP00000221769;OTTHUMP00000221770;putative sodium-coupled neutral amino acid transporter 9;solute carrier family 38 member 9 protein-coding ENSG00000177058 HGNC:26907 08817 VALIDATED 2290191 SLC38A8 solute carrier family 38, member 8 This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014] 16 16 16 q23.3 68345794 68378119 - 84043389 84075762 - 84009667 84043037 - 7240710;8699517;8554872 11181995;20379614;23213074;24045842;24289273;24290379 146167 A6NNN8;H3BP02;H3BUP5 ABBA01016920;ABBA01016921;ABBA01016922;AC040169;AMYH02032559;CH471114;NG_034136;NM_001080442;XM_006721135 A6NNN8;EAW95507;NP_001073911;XP_006721198 FVH2 putative sodium-coupled neutral amino acid transporter 8;solute carrier family 38 member 8 protein-coding ENSG00000166558 HGNC:32434 609218;615585 REVIEWED 8695554 SLC39A12-AS1 SLC39A12 antisense RNA 1 10 10 10 p12.33 17977223 18004760 - 18290715 18299491 - 18001786 18010562 - 14702039 100129213 ABBA01034547;AK055012;AL360231;AL590111;AMYH02022371;HG502712;NR_038419 Hs.568816 ncrna ENSG00000226083 HGNC:44881 VALIDATED 1313154 SLC39A1 solute carrier family 39 (zinc transporter), member 1 This gene encodes a member of the zinc-iron permease family. The encoded protein is localized to the cell membrane and acts as a zinc uptake transporter. This gene has been linked to prostate cancer, breast cancer, and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 1 1 1 q21 127003339 127011938 - 153931575 153940660 - 153959099 153968184 - 6480464;8554872 10477520;10610721;10681536;10810093;11301334;11696349;12477932;12888280;14525987;14702039;15489334;16153295;16169070;16203195;16303743;17635580;18279033;18765529;19026724;19644445;19802870;20471814;20705137;21053094;21103883;21139048;21988832;22349685;22903471;23839533;23921484 27173 Q5T4K2;Q5T4K3;Q5T4K4;Q9NY26 ABBA01049459;AF132942;AF151829;AJ243649;AJ243650;AJ271671;AK074943;AK075257;AK293389;AK297983;AK300244;AL358472;AMYH02001912;AW571711;BC002563;BC003152;BC007886;BC014303;BC047288;BC069261;BG704399;BM807264;CH471121;CQ783764;CR457217;DA052424;DA354647;DA711655;DA818910;DB001496;HY042960;NM_001271957;NM_001271958;NM_001271959;NM_001271960;NM_001271961;NM_014437;XM_006711276 AAD27717;AAD34066;AAH02563;AAH03152;AAH07886;AAH14303;ABM84545;ABM86276;BAC11502;BAG52035;BAG56898;BAG60292;BAG62011;CAB59979;CAB59980;CAB82784;CAF86850;CAG33498;EAW53259;EAW53261;EAW53264;EAW53265;EAW53267;NP_001258886;NP_001258887;NP_001258888;NP_001258889;NP_001258890;NP_055252;Q9NY26;XP_006711339 Hs.743291;Hs.7854 1670311;1678815;1683243;1778500;1794596;1849705;1856332;2117210;2180479;2191725 D1S1830E;D1S2463;G19748;MARC_5745-5746:996690776:3;PMC321570P9;RH10553;RH16039;RH186;RH64708;WI-22571 ZIP-1;ZIP1;ZIRTL;hZIP1 OTTHUMP00000035259;OTTHUMP00000035260;OTTHUMP00000035262;OTTHUMP00000035263;OTTHUMP00000038686;solute carrier family 39 (zinc transporter), member 3;solute carrier family 39 member 1;zinc transporter ZIP1;zinc-iron regulated transporter-like;zinc-iron-regulated transporter-like;zinc/iron regulated transporter-like;zrt- and Irt-like protein 1 protein-coding ENSG00000143570 HGNC:12876 11984 604740 REVIEWED 1312289 SLC39A13 solute carrier family 39 (zinc transporter), member 13 This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome.[provided by RefSeq, Mar 2010] 11 11 11 p11.2 47571745 47579746 + 47428683 47438051 + 47407132 47416500 + 1580863;6480464;7240710;8554872;8699517 12477932;12659941;18513683;18985159;19064571;21739577;21917916;23213233;8889548 91252 E9PNE7;E9PNN7;E9PRH4;E9PSA8;G3V1B2;K4DIA9;K4DIB5;Q96H72 ABBA01060715;AC090559;AK098651;AL133581;AMYH02024731;BC008853;BC019016;BI918365;BX342307;BX647491;CF132216;CH471064;DR001557;NG_017073;NM_001128225;NM_152264;XM_005253221;XM_005253222;XM_006718381;XM_006718382;XM_006718383;XM_006718384;XM_006718385;XM_006718386;XR_242832;XR_428862;XR_428863 AAH08853;AAH19016;ABM83174;ABW03478;BAC05365;CAH56389;EAW67917;EAW67918;EAW67919;EAW67920;EAW67921;EAW67922;EAW67923;NP_001121697;NP_689477;Q96H72;XP_005253278;XP_005253279;XP_006718444;XP_006718445;XP_006718446;XP_006718447;XP_006718448;XP_006718449 Hs.523664 FLJ25785 LIV-1 subfamily of ZIP zinc transporter 9;LZT-Hs9;OTTHUMP00000234332;OTTHUMP00000236487;OTTHUMP00000236488;OTTHUMP00000236489;solute carrier family 39 (metal ion transporter), member 13;zinc transporter ZIP13;zrt- and Irt-like protein 13 APPROVED protein-coding ENSG00000165915 HGNC:20859 608735;612350 REVIEWED 1314826 SLC39A2 solute carrier family 39 (zinc transporter), member 2 This gene encodes a member of the ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid artery disease. Multiple transcript variants have been described. [provided by RefSeq, Mar 2010] 14 14 14 q11.2 1328279 1330899 + 21467414 21470034 + 20999255 21001875 + 1580863;6480464 10477520;10681536;11590192;11831460;12002684;12477932;12730457;12748861;14612438;15146197;15342556;15489334;16344560;17473989;17550612;17786585;18279033;18326752;18328005;18385089;18676680;19170196;19598279;19625176;19692168;21508100;21603979;21947419;22079192;22209006;23686108;23921484;7751801 29986 Q9NP94 ABBA01061237;AF186081;AI382710;AK314974;AL161668;AL355922;AMYH02028826;AY029483;BC096723;BC098254;BC098274;BC110057;BP359281;CH471078;CN306082;D83039;DA871745;NG_017065;NM_001256588;NM_014579 AAF35832;AAH96723;AAH98254;AAI10058;AAK40258;BAA94313;BAG37473;EAW66431;NP_001243517;NP_055394;Q9NP94 Hs.175783 2109853;2139196 RH48291;SLC39A2_3817 6A1;Eti-1;MGC119190;ZIP-2;ZIP2;hZIP2 OTTHUMP00000164402;Zrt- and Irt-like protein 2;solute carrier family 39 member 2;zinc transporter ZIP2;zinc uptake transporter 2 APPROVED protein-coding ENSG00000165794 HGNC:17127 15385 612166 REVIEWED 1316445 SLC39A10 solute carrier family 39 (zinc transporter), member 10 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008] 2 2 2 q32.3 190277406 190358291 + 196477798 196602426 + 195656808 195737702 + 6480464;8554872 10574462;12477932;12659941;18781797;19064571;19322201;20379614;21890473;21906983;21963094;21987572;22832960;23000965;23898208 57181 C9J0F5;E7ENT5;E7EV45;F2Z341;Q05C42;Q9ULF5 AB033091;ABBA01062449;ABBA01062450;AC013274;AI693720;AK074996;AK291241;AK294771;AL050294;AMYH02005499;AMYH02005500;AX405756;BC010371;BC029413;BC047493;BC073909;BC101516;BC112223;BX490118;CH471063;CR749813;NM_001127257;NM_020342;XM_005246689;XM_005246692 AAH29413;AAH73909;AAI01517;AAI12224;ADR83428;BAA86579;BAC11343;BAF83930;BAG57901;CAB43393;CAD34863;CAH18673;EAW70116;EAW70117;EAW70118;EAW70119;NP_001120729;NP_065075;Q9ULF5;XP_005246746;XP_005246749 Hs.650158 1691068;2113914;2162094;2178305;2218766;5123686 AB060898;DNAH7__4760;RH69214;RH92946;SHGC-36936;WI-21799 DKFZp781L10106;LZT-Hs2;MGC126565;MGC138428;ZIP-10 OTTHUMP00000205660;OTTHUMP00000205661;solute carrier family 39 (metal ion transporter), member 10;solute carrier family 39 member 10;zinc transporter ZIP10;zrt- and Irt-like protein 10 APPROVED protein-coding ENSG00000196950 HGNC:20861 10572 608733 VALIDATED 1322010 SLC39A3 solute carrier family 39 (zinc transporter), member 3 ENCODES a protein that exhibits metal ion transmembrane transporter activity (inferred); zinc ion transmembrane transporter activity (inferred); INVOLVED IN metal ion transport (inferred); transmembrane transport (inferred); zinc ion transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH all-trans-retinoic acid; calcitriol; valproic acid 19 19 19 p13.3 2668859 2676411 - 2729925 2740074 - 2732524 2740076 - 1580863;6480464 10681536;12477932;14525987;14702039;15054103;17550612;18279033;19308021;21053094;21139048;21613827;22427155;8619474;9110174 29985 F5H385;K7EJZ1;K7ENJ1;Q9BRY0 ABBA01002766;ABBA01002767;AC006538;AF052125;AK002044;AK302600;AMYH02035217;BC000815;BC005869;BC017009;BC020571;BG719479;BQ898834;CH471139;NM_144564;NM_213568 AAH05869;AAH20571;BAG51005;BAG63850;EAW69369;EAW69370;NP_653165;NP_998733;Q9BRY0 Hs.515046 1677406 RH81024 ZIP-3;ZIP3 solute carrier family 39 member 3;zinc transporter ZIP3;zrt- and Irt-like protein 3 protein-coding ENSG00000141873 HGNC:17128 15386 612168 VALIDATED 1323721 SLC39A11 solute carrier family 39, member 11 ENCODES a protein that exhibits metal ion transmembrane transporter activity (inferred); INVOLVED IN metal ion transport (inferred); transmembrane transport (inferred); zinc ion transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; calcitriol 17 17 17 q24.3-q25.1 67213461 67671934 - 70642085 71088853 - 72645946 73092714 - 1580863;6480464;8554872 11591653;11707075;12477932;14702039;16344560;19322201;19451621;19913121;20379614;20628086;21906983;22589738;23128233;23192594;23400010;23698163;23956138;24068947;24124411;8889548 201266 J3KRI1;J3KRX2;J3KS66;J3KT59;J3KTP1;J3QLA9;J3QLB2;J3QQP1;J3QRN3;J3QS49;Q8N1S5 ABBA01028877;ABBA01028878;ABBA01028879;ABBA01028880;ABBA01028881;ABBA01028882;ABBA01028883;ABBA01028884;ABBA01028885;ABBA01028886;AC011120;AC025198;AC080037;AC138336;AF331643;AK095227;AK313376;AMYH02033944;AMYH02033945;AMYH02033946;AMYH02033947;AMYH02033948;AMYH02033949;AMYH02033950;AMYH02033951;AMYH02033952;AMYH02033953;AMYH02033954;AMYH02033955;BC035631;BU686998;CH471099;DA380043;NM_001159770;NM_139177;XM_005257134;XM_005257135;XM_005257136;XM_006721754;XM_006721755;XM_006721756;XM_006721757;XM_006721758;XM_006721759;XR_429877 AAH35631;AAL32175;BAC04504;BAG36174;EAW89107;EAW89108;EAW89109;NP_001153242;NP_631916;Q8N1S5;XP_005257191;XP_005257192;XP_005257193;XP_006721817;XP_006721818;XP_006721819;XP_006721820;XP_006721821;XP_006721822 Hs.221127 1338550;1339327;1341934;1686130;1694662;1723657;1749193;1756383;1759571;1762639;1762949;1787892;1850842;2108499;2144311;2164501;2184663 D17S1351;D17S1848;D17S692;G43511;RH118747;RH45475;RH69804;RH78720;RH91208;SHGC-110876;SHGC-143352;SHGC-146444;SHGC-146701;SHGC-150922;SHGC-173571;SLC39A11_8154;STS-D20379 C17orf26;ZIP-11;ZIP11 Zrt- and Irt-like protein 11;solute carrier family 39 (metal ion transporter), member 11;solute carrier family 39 member 11;zinc transporter ZIP11 APPROVED protein-coding ENSG00000133195 HGNC:14463 15383 VALIDATED 1321159 SLC39A5 solute carrier family 39 (zinc transporter), member 5 The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] 12 12 12 q13.3 56276713 56284524 + 56623820 56631630 + 56230036 56237846 + 6480464;8699517;8554872 12477932;12659941;12839489;14702039;15322118;15489334;16344560;19056867 283375 C9JB28;C9JIB2;C9JPS5;C9JPS6;C9JVC6;Q6ZMH5 ABBA01008412;AC073896;AK172768;AK298331;AK313188;AMYH02026563;BC027884;CH471054;DA640935;DA918133;NG_034265;NM_001135195;NM_173596;XM_005268803 AAH27884;BAD18751;BAG36005;BAG60580;EAW96916;EAW96917;EAW96918;NP_001128667;NP_775867;Q6ZMH5;XP_005268860 Hs.591018 1644667;1667185;1686054 RH70180;RH98394;SGC34394 LZT-Hs7;MGC34778;MYP24;ZIP-5;ZIP5 OTTHUMP00000211153;OTTHUMP00000211154;solute carrier family 39 (metal ion transporter), member 5;solute carrier family 39 member 5;zinc transporter ZIP5;zrt- and Irt-like protein 5 APPROVED protein-coding ENSG00000139540 HGNC:20502 608730;615946 REVIEWED 1312236 SLC39A6 solute carrier family 39 (zinc transporter), member 6 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008] 18 18 18 q12.2 30496380 30517237 - 33688494 33709357 - 36108531 36129394 - 1580863;6480464 11911440;12477932;12659941;12839489;12960427;15340161;15489334;15642354;15986450;17207965;17786585;17825787;17959546;18330719;19066393;19336002;19581412;19724917;19852955;19887557;21906983;21963094;22110740;22349685;22779921;22852056;23437163;23644492;23919497;24250222;24654937;2903103 25800 K7EQ91;Q13433 ABBA01022433;ABBA01022434;AC091060;AK299102;AK301539;AK304079;AMYH02034561;BC008317;BC039498;BX336036;CA443894;CH471088;CQ834422;DC369482;DC410860;DC414741;DR762943;NM_001099406;NM_012319;U41060 AAA96258;AAH08317;AAH39498;ADQ33084;BAG61161;BAG63038;BAG64986;CAH05426;EAX01371;EAX01372;NP_001092876;NP_036451;Q13433 Hs.79136 1851432 WI-14709 LIV-1;ZIP-6 LIV-1 protein, estrogen regulated;estrogen-regulated protein LIV-1;solute carrier family 39 (metal ion transporter), member 6;solute carrier family 39 member 6;zinc transporter ZIP6;zrt- and Irt-like protein 6 APPROVED protein-coding ENSG00000141424 HGNC:18607 12285 608731 VALIDATED 1315975 SLC39A14 solute carrier family 39 (zinc transporter), member 14 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A14 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008] 8 8 8 p21.3 21186754 21253275 + 22224762 22291642 + 22367249 22434129 + 1580863;6480464 12477932;12659941;15642354;15863613;16196087;18029348;18524764;19322201;20587610;20682781;20938052;21139048;21373779;21462106;21903422;21906983;21963094;21987572;22137264;22173985;22318508;23052185;23110240;23798571;24250222;24927598;7584044;9391139 23516 E5RFF5;E5RFT1;E5RFZ8;E5RGA7;E5RIP4;E5RJ40;E5RJG5;Q15043 AA181885;ABBA01005512;ABBA01005513;ABBA01005514;ABBA01005515;ABBA01005516;AC087854;AC105910;AF026940;AK172810;AK295807;AMYH02017593;BC000068;BC015770;BX648538;CH471080;D31887;DC323208;DC423882;NM_001128431;NM_001135153;NM_001135154;NM_015359;XM_005273463;XM_005273464;XM_005273465;XM_005273466;XM_006716323;XM_006716324 AAH15770;ADZ15405;BAA06685;BAD18780;BAG58625;EAW63680;EAW63681;EAW63682;EAW63683;NP_001121903;NP_001128625;NP_001128626;NP_056174;Q15043;XP_005273520;XP_005273521;XP_005273522;XP_005273523;XP_006716386;XP_006716387 Hs.491232 1341270;1658707;1662224;1689422;1735804;1774509;1854588;2156672;2167080;2170054;2218008;5092886 1684;A009B38;D8S1419E;D8S1587;D8S1931;D8S439;G32392;RH11601;RH16598;RH25295;SHGC-56581;SLC39A14_3803 KIAA0062;LZT-Hs4;NET34;ZIP-14;ZIP14;cig19 LIV-1 subfamily of ZIP zinc transporter 4;OTTHUMP00000123432;OTTHUMP00000123433;OTTHUMP00000123434;OTTHUMP00000226296;Zrt-, Irt-like protein 14;solute carrier family 39 (metal ion transporter), member 14;solute carrier family 39 member 14;zinc transporter ZIP14;zrt- and Irt-like protein 14 APPROVED protein-coding ENSG00000104635 HGNC:20858 12288 608736 VALIDATED 1344767 SLC39A7 solute carrier family 39 (zinc transporter), member 7 The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of the encoded protein could be useful as a therapeutic agent against cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 6 6 6 p21.3 34722969 34726580 + 33168603 33172214 + 33200826 33204437 + 1580863;6480464 12477932;12839489;14525538;14574404;15489334;15576338;15705588;16083285;16344560;16712791;17353931;17975119;1855816;18583420;18781797;19023099;19246244;19615732;19851445;19913121;20587610;20602615;20628086;21139048;21906983;21963094;21988832;22317921;24457600;24816145;8125298;8812499 7922 A2AAT0;B4DZZ8;Q92504 ABBA01038138;AF117221;AK225282;AK225682;AK301126;AK303158;AL031228;AL645940;AL662824;AL844527;AMYH02013481;BC000645;CB107807;CH471081;CR354565;CR759733;CR759786;CR847841;CR936877;D82060;DA573310;DR158641;M58660;NG_023374;NM_001077516;NM_001288777;NM_006979 AAA63219;AAD12305;AAH00645;ABM82855;ABM86042;BAA11528;BAG62720;BAG64260;CAA20238;EAX03680;EAX03681;NP_001070984;NP_001275706;NP_008910;Q92504 Hs.631995 1794594;2157964;2189435;2218010 MARC_5891-5892:991939781:1;PMC321570P8;RH66534;SLC39A7_3898 D6S115E;D6S2244E;H2-KE4;HKE4;KE4;RING5;ZIP7 HLA class II region expressed gene KE4;Ke4 gene, mouse, human homolog of;OTTHUMP00000029348;OTTHUMP00000029349;histidine-rich membrane protein Ke4;really interesting new gene 5 protein;solute carrier family 39 member 7;zinc transporter SLC39A7;zrt-, Irt-like protein 7 APPROVED protein-coding ENSG00000112473 HGNC:4927 09028 601416 REVIEWED 1322587 SLC39A9 solute carrier family 39, member 9 ENCODES a protein that exhibits metal ion transmembrane transporter activity (inferred); INVOLVED IN metal ion transport (inferred); transmembrane transport (inferred); zinc ion transport (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH benzo[a]pyrene; calcitriol; disodium selenite 14 14 14 q24.1 49929546 49993246 + 69865096 69929107 + 69398379 69462390 + 6480464 12477932;12975309;14702039;15342556;16344560;17207965;18029348;19064571;19420709;21696611;8125298 55334 B4DDK0;C4N9M8;M0QX28;Q9NUM3 AA884056;ABBA01030828;ABBA01030829;AK002136;AK025831;AK222547;AK293222;AK310285;AK316381;AL137760;AL157996;AMYH02029434;AY358687;AY780789;BC047682;BC062762;BC064383;BP269907;BP299863;BX643103;CH471061;DA112731;FJ423549;NM_001252148;NM_001252150;NM_001252151;NM_001252152;NM_018375;XM_005267834 AAH47682;AAH64383;AAQ89050;AAV98359;ACR27086;ADQ32543;BAA92100;BAD96267;BAG56761;BAH14752;EAW80991;EAW80992;EAW80993;EAW80994;EAW80995;NP_001239077;NP_001239079;NP_001239080;NP_001239081;NP_060845;Q9NUM3;XP_005267891 Hs.432690 1340612;1699274;1736462;1751625;2108927;2123260;2133295;2157059;5093520;5114550;5127436 A009Q09;D14S554;D14S716E;G32766;G35547;G35877;G36004;RH103219;RH70513;SHGC-105597;SLC39A9_8061 FLJ11274;MGC74989;ZIP-9;ZIP9 OTTHUMP00000245511;OTTHUMP00000245512;OTTHUMP00000245513;OTTHUMP00000245514;solute carrier family 39 (zinc transporter), member 9;zinc transporter SLC39A9;zinc transporter ZIP9;zrt- and Irt-like protein 9 APPROVED protein-coding ENSG00000029364 HGNC:20182 15387 VALIDATED 1319582 SLC39A12 solute carrier family 39 (zinc transporter), member 12 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008] 10 10 10 p12.33 17927289 18018644 + 18240768 18332221 + 17951839 18043292 + 6480464;8554872 10737800;12477932;12659941;14702039;16311021;16385451;19064571;20379614;23716681 221074 B7Z2Y9;F5GX72;Q504Y0 ABBA01034545;ABBA01034546;ABBA01034547;AC069023;AK055061;AK295294;AK303735;AL360231;AL590111;AMYH02022370;AMYH02022371;BC035118;BC047635;BC065917;BC094700;BC117323;BC143551;BF963263;CH471072;DB469365;DB540352;DB545916;NM_001145195;NM_001282733;NM_001282734;NM_152725 AAH35118;AAH47635;AAH65917;AAH94700;AAI17324;AAI43552;ADR83097;BAB70848;BAH12025;BAH14035;EAW86199;EAW86200;EAW86201;NP_001138667;NP_001269662;NP_001269663;NP_689938;Q504Y0 Hs.350895 1663678;1836354;1841038;1882454;1882456;1882458;2106625;2183947 ECD19339;ECD21712;G17490;G17503;REN11920;REN11921;REN11922;SLC39A12__5440 FLJ30499;LZT-Hs8;MGC43205;MGC51099;ZIP-12;bA570F3.1 LIV-1 subfamily of ZIP zinc transporter 8;OTTHUMP00000019246;OTTHUMP00000019247;solute carrier family 39 (metal ion transporter), member 12;solute carrier family 39 member 12;zinc transporter ZIP12;zrt- and Irt-like protein 12 APPROVED protein-coding ENSG00000148482 HGNC:20860 15384 608734 VALIDATED 1345624 SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 p16.3 44341552 44386916 + 44502597 44547963 + 44275458 44320824 + 1600015;1580863;6480464;7240710;8554872;8699517 8054986 10574970;10588648;10799513;11318953;11458794;11748844;12060600;12167606;12234283;12239244;12372889;12477932;12820697;14531788;14561219;14702039;14991253;15489334;15635077;15691362;15815621;15818800;15818801;15818802;15913950;16138908;16358225;17010017;18195088;18234729;18332091;18752446;18778962;19056867;19782624;20146678;20800603;21255007;22796000;23794250;24045899;24449952;7539209;7568194;7573036;7575432;7686906;7789946;8125298;8486766;8663184;9186880 6519 B8ZZK1;B8ZZP2;C9JBK3;Q07837 AB033549;ABBA01075106;ABBA01075107;AC013717;AK091932;AK092000;AK223146;AK289636;AK309145;AK313157;AMYH02003707;BC022386;BC093624;BC093626;CH471053;DQ023512;DQ023513;DQ023514;DQ023515;DQ023516;DQ023517;L11696;M95548;NG_008233;NM_000341;U60819 AAA35500;AAA81778;AAB39829;AAH22386;AAH93624;AAH93626;AAX88955;AAY89643;AAY89644;AAY89645;AAY89646;AAY89647;AAY89648;ABM82957;ABM86148;BAB16841;BAD96866;BAF82325;BAG35975;BAG52443;EAX00278;EAX00279;NP_000332;Q07837 Hs.112916 1649716;1676978;1727203;1743465;1745883;1745885;1745887;1745891;1745893;1778605;2165488;2180424;5107048;5107050;5107052 D2S2562;D2S2945;D2S2946;D2S2947;G62856;GDB:335819;GDB:681418;GDB:681433;GDB:681454;GDB:681472;GDB:681483;RH12757;RH19832;RH69205;RH94171 ATR1;CSNU1;D2H;FLJ34681;NBAT;RBAT B(0,+)-type amino acid transport protein;OTTHUMP00000158957;OTTHUMP00000202385;OTTHUMP00000202387;OTTHUMP00000202388;OTTHUMP00000202389;SLC3A1 variant B;SLC3A1 variant C;SLC3A1 variant D;SLC3A1 variant E;SLC3A1 variant F;SLC3A1 variant G;amino acid transporter 1;neutral and basic amino acid transport protein rBAT;solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1;solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1;solute carrier family 3 member 1 APPROVED protein-coding HGNC:11025 00090 104614;220100 REVIEWED 1315470 SLC39A4 solute carrier family 39 (zinc transporter), member 4 This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 8 8 8 q24.3 141812232 141816707 - 145637798 145642279 - 144412414 144416895 - 1599005;6480464;7240710;8554872;8699517 12068297 11254458;12032886;12477932;12659941;12787121;12801924;12955721;14612438;14702039;14709598;15489334;16344560;16682017;16889938;16986515;17202136;17573886;18003899;18328205;18684156;18936158;19021533;19370757;19416242;19416256;19755388;20023433;20160059;20300938;20463217;20471814;20587610;20957146;20970119;21165302;21462106;21603979;21803616;21906148;21906983;22242765;23228939;23331012;23595627;23857777 55630 A6NDY5;E9PQ16;Q6P5W5;Q9NX22 ABBA01005205;AC233992;AF205589;AK000334;AK000489;AK000695;AK025537;AK056900;AK290563;AMYH02019006;BC001688;BC033807;BC062625;BE798833;BI765535;CH471162;CQ834248;CQ834282;DA837547;DA915781;DC361959;NG_012234;NM_001280557;NM_017767;NM_130849;XM_006716599 AAH01688;AAH62625;BAA91091;BAA91200;BAB15164;BAF83252;CAH05339;CAH05356;EAW82101;EAW82102;EAW82103;EAW82104;EAW82105;NP_001267486;NP_060237;NP_570901;Q6P5W5;XP_006716662 Hs.521934 5022578;5024039 D16S325;D1S1423 AEZ;AWMS2;FLJ20327;MGC74741;ZIP-4;ZIP4 OTTHUMP00000228914;OTTHUMP00000228915;solute carrier family 39 member 4;zinc transporter ZIP4;zrt- and Irt-like protein 4 APPROVED protein-coding ENSG00000147804 HGNC:17129 06137 201100;607059 REVIEWED 1322838 SLC41A1 solute carrier family 41 (magnesium transporter), member 1 ENCODES a protein that exhibits cation transmembrane transporter activity (inferred); INVOLVED IN cation transmembrane transport (inferred); transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; benzo[a]pyrene 1 1 1 q32.1 178894473 178918404 - 205758221 205782887 - 205789093 205813759 - 6480464;8554872 12477932;12810078;14702039;15713785;18367447;19322201;19915576;20683486;21696366;21738487;21812739;21890473;22031603;23269536;23661805;23823179;23844728;23976986 254428 B2RMP2;B3KWH2;Q8IVJ1 ABBA01027405;ABBA01027406;AC119673;AJ514402;AK092123;AK093254;AK125075;AK128069;AK314732;AL831974;AL832001;AL832362;AMYH02002551;BC136303;BX641054;BX648979;CH471067;NM_173854;XM_005245069 AAI36304;BAG54134;BAG54625;CAD58404;CAE46028;CAH56135;CAH56211;CAH56213;CAH56217;EAW91582;EAW91583;NP_776253;Q8IVJ1;XP_005245126 Hs.20274 1659885;1721097;2124641;2172764;2172857 D1S2156;G59533;SHGC-76224;SHGC-76236;SHGC-76247 MgtE OTTHUMP00000034231;solute carrier family 41 member 1;solute carrier family 41, member 1 APPROVED protein-coding ENSG00000133065 HGNC:19429 15388 610801 VALIDATED 1316398 SLC41A2 solute carrier family 41 (magnesium transporter), member 2 ENCODES a protein that exhibits cation transmembrane transporter activity (inferred); INVOLVED IN cation transmembrane transport (inferred); transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 12 12 12 q23.3 104861914 104987145 - 105196331 105352476 - 104802553 104958293 - 6480464;8554872 11230166;12477932;12810078;14702039;15809054;16344560;17207965;23000965 84102 C9J2P6;C9JA64;C9JCR2;C9JDQ2;C9JIL4;C9JKF2;C9JYJ7;H7BZT9;Q96JW4 ABBA01053191;AC089985;AC090051;AK027838;AL136828;AMYH02027104;AMYH02027105;AMYH02027106;AW016390;BC036734;BC106871;BC106872;CH471054;DA050789;NM_032148;XM_005269176;XM_005269178;XM_005269179;XM_005269180;XM_006719630 AAH36734;AAI06872;AAI06873;ACE86974;ADQ32853;BAB55402;CAB66762;EAW97752;EAW97753;NP_115524;Q96JW4;XP_005269233;XP_005269235;XP_005269236;XP_005269237;XP_006719693 Hs.577463 1669747;1746383;2108501;2130811;2176456 D12S1826;D12S1844;G64583;SLC41A2_8112;WI-11905 DKFZp434K0427;MGC125330;MGC125331;SLC41A1-L1 OTTHUMP00000211172;SLC41A1-like 1;solute carrier family 41 member 2;solute carrier family 41, member 2 APPROVED protein-coding ENSG00000136052 HGNC:31045 15389 610802 VALIDATED 1343810 SLC41A3 solute carrier family 41, member 3 ENCODES a protein that exhibits cation transmembrane transporter activity (inferred); INVOLVED IN cation transmembrane transport (inferred); FOUND IN plasma membrane; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; arsenous acid 3 3 3 q21.2 124148794 124244070 - 125725200 125820398 - 126006357 126101555 - 1580863;6480464 10737800;12477932;12810078;14702039;15302935;21832049;21900206;21906983 54946 D3DNA7;D6R925;D6R9M9;D6R9S7;D6R9X6;D6RC02;D6RDB0;D6RDM3;D6RF72;D6RHE3;D6RJC0;Q96GZ6 ABBA01016395;ABBA01016396;ABBA01016397;ABBA01016398;ABBA01016399;AC079848;AC092903;AC117422;AI814125;AK000480;AK021925;AK022780;AK091671;AK093380;AK094051;AK128054;AK298070;AK307107;AL560923;AMYH02007580;AW614139;AW938624;BC009039;BC009444;BC028241;BC035753;BM547018;BQ777605;CD300027;CH471052;CQ834870;NM_001008485;NM_001008486;NM_001008487;NM_001164475;NM_017836;XM_005247559;XM_005247560;XM_005247561;XM_005247562;XM_005247563;XM_005247564;XM_005247565;XM_006713681 AAH09039;AAH28241;BAA91192;BAB13938;BAB14241;BAC03717;BAG52701;BAH12718;CAH05650;EAW79374;EAW79375;EAW79376;EAW79377;NP_001008485;NP_001008486;NP_001008487;NP_001157947;NP_060306;Q96GZ6;XP_005247616;XP_005247617;XP_005247618;XP_005247619;XP_005247620;XP_005247621;XP_005247622;XP_006713744 Hs.573007 1675423;1764907;1787670;1853814;2109855;2138848;2147117 D3S3078;RH47414;RH80252;SHGC-148468;SHGC-156151;SHGC-77304;SLC41A3_8057 FLJ20473;SLC41A1-L2 OTTHUMP00000222516;OTTHUMP00000222518;OTTHUMP00000222720;OTTHUMP00000222721;OTTHUMP00000222889;SLC41A1-like 2;solute carrier family 41 member 3 protein-coding ENSG00000114544 HGNC:31046 11580 610803 VALIDATED 1317883 SLC43A1 solute carrier family 43 (amino acid system L transporter), member 1 SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008] 11 11 11 q12.1 54608562 54639686 - 57252004 57283192 - 57484531 57515719 - 1580863;6480464 11956097;12477932;12930836;14702039;15489334;18195088;21906983;21963094;23000965;8889549;9255310;972295;9722952 8501 E9PJ68;E9PJT8;E9PR87;E9PRF0;H0YEH0;O75387 AA040589;AB103033;ABBA01021474;AF045584;AK027732;AMYH02024843;AP002893;BC001639;BM147085;BQ029981;CH471076;NM_001198810;NM_003627;XM_005274357;XM_005274358 AAC33004;AAH01639;BAD00152;BAG51373;EAW73749;EAW73750;EAW73751;EAW73752;NP_001185739;NP_003618;O75387;XP_005274414;XP_005274415 Hs.591952;Hs.735724 1671852;1855708;2107607;2146013;2162074 RH11621;RH16439;SLC43A1_7921;WI-17004;WI-18571 LAT3;PB39;POV1;R00504 L-type amino acid transporter 3;OTTHUMP00000234819;OTTHUMP00000234820;large neutral amino acids transporter small subunit 3;prostate cancer overexpressed gene 1 protein;solute carrier family 43, member 1 APPROVED protein-coding ENSG00000149150 HGNC:9225 07227 603733 VALIDATED 1317894 SLC39A8 solute carrier family 39 (zinc transporter), member 8 This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008] 4 4 4 q22-q24 100470678 100565146 - 103172198 103266655 - 102251041 102345498 - 1580863;6480464 12477932;12504855;12659941;12839489;14702039;16083285;18270315;18390834;18556457;19064571;19401385;20686565;20864672;20935630;21909110;21909115;22078303;22898811;23403290;23688035;23921484;24097068 64116 Q9C0K1 AB020969;AB020970;AB040120;ABBA01063698;AC098487;AF193052;AK027652;AK304274;AL049963;AMYH02009816;AP002023;BC001320;BC012125;BF000600;BI823248;CA438467;CH471057;DR006301;NM_001135146;NM_001135147;NM_001135148;NM_022154;XM_005263177 AAG22480;AAH01320;AAH12125;ABM83138;ABM86333;BAA96442;BAB21559;BAB55268;BAG65135;EAX06129;EAX06130;EAX06131;EAX06132;NP_001128618;NP_001128619;NP_001128620;NP_071437;Q9C0K1;XP_005263234 Hs.288034 1649142;1652698;1688933;1774555;1794592;2119597;2165417;2165419;2174312;5114349 A006D35;D4S2644;G20730;G34418;PMC321570P6;RH65581;RH78848;RH92985;SHGC-36631;SHGC-50443 BIGM103;LZT-Hs6;PP3105;ZIP-8;ZIP8 BCG induced integral membrane protein BIGM103;BCG-induced integral membrane protein in monocyte clone 103 protein;LIV-1 subfamily of ZIP zinc transporter 6;OTTHUMP00000161761;OTTHUMP00000161762;OTTHUMP00000219647;Zrt- and Irt-like protein 8;solute carrier family 39 (metal ion transporter), member 8;solute carrier family 39 member 8;zinc transporter ZIP8 APPROVED protein-coding ENSG00000138821 HGNC:20862 12286 608732 REVIEWED 1350504 SLC43A2 solute carrier family 43 (amino acid system L transporter), member 2 System L amino acid transporters, such as SLC43A2, mediate sodium-independent transport of bulky neutral amino acids across cell membranes (Bodoy et al., 2005 [PubMed 15659399]).[supplied by OMIM, Mar 2008] 17 17 17 p13.3 1493130 1547478 - 1477678 1532130 - 1569254 1629985 - 6480464 12477932;15659399;16303743;18195088;19322201;19913121;20379614;20628086;21906983;21963094;21987572;23268354 124935 I3L3E3;I3L4J2;I3L4V3;Q8N370 AB120364;ABBA01054667;ABBA01054668;ABBA01054669;AC100748;AC130343;AF289592;AK074428;AK075068;AK075173;AK075196;AK301127;AMYH02032746;AMYH02032747;BC019562;BC027923;BC071859;BK005642;CH471108;DC381982;HY089501;N26925;NM_001284498;NM_001284499;NM_152346;XM_006721444;XM_006721445;XM_006721446 AAH19562;AAH27923;AAH71859;AAL55776;BAC11383;BAC11450;BAC11464;BAD91091;BAH13415;DAA05676;EAW90601;EAW90602;EAW90603;EAW90604;EAW90605;EAW90606;EAW90607;NP_001271427;NP_001271428;NP_689559;Q8N370;XP_006721507;XP_006721508;XP_006721509 Hs.160550;Hs.656337 1341713;1769124 D16S3107;STS-F09512 FLJ23848;LAT4;MGC34680 L-type amino acid transporter 4;OTTHUMP00000115403;amino acid transporter;large neutral amino acids transporter small subunit 4;solute carrier family 43, member 2 APPROVED protein-coding ENSG00000167703 HGNC:23087 15390 610791 VALIDATED 1352703 SLC44A1 solute carrier family 44 (choline transporter), member 1 ENCODES a protein that exhibits choline transmembrane transporter activity (inferred); INVOLVED IN choline transport (inferred); glycerophospholipid biosynthetic process (inferred); phosphatidylcholine biosynthetic process (inferred); FOUND IN extracellular vesicular exosome; membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 3-methylcholanthrene 9 9 9 q31.2 78512264 78659033 + 108006906 108200785 + 105244613 105438504 + 632580;1580863;6480464 10677542 11698453;12477932;14702039;15164053;15489334;15691711;15715662;16319125;16344560;16609143;17192395;19056867;19322201;19357133;19448620;19519661;19946888;20410607;21139048;21185344;21900206;21906983;21963094;21987572;22483272;22505724;23948665;24816145;25015289 23446 Q8WWI5 ABBA01042816;ABBA01042817;AJ245620;AJ272365;AJ420812;AK000109;AK022549;AK124926;AL161627;AL450265;AL590368;AMYH02021395;AMYH02021396;AMYH02021397;BC018213;BC049203;CD101684;CF994263;CH471105;DA073110;NM_001286730;NM_080546;XM_005251855;XM_005251857;XM_006717027;XM_006717028;XM_006717029 AAH18213;AAH49203;BAG51089;BAG54114;CAB75541;CAC82175;CAD12764;EAW58995;EAW58996;EAW58997;EAW58998;EAW58999;NP_001273659;NP_536856;Q8WWI5;XP_005251912;XP_005251914;XP_006717090;XP_006717091;XP_006717092 Hs.573495 1341156;1656613;1678051;1689356;1699104;1722853;2110311;2118935 CDW92_9350;D9S1784;G60369;RH103128;RH79975;RH80136;SGC38127;WI-17320 CD92;CDW92;CHTL1;CTL1;RP11-287A8.1 CDW92 antigen;OTTHUMP00000021836;OTTHUMP00000021837;OTTHUMP00000021838;OTTHUMP00000021839;choline transporter-like protein 1;solute carrier family 44, member 1 APPROVED protein-coding ENSG00000070214 HGNC:18798 16197 606105 VALIDATED 1349303 SLC44A4 solute carrier family 44, member 4 The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 6 6 6 p21.3 33429555 33445404 - 31830969 31846823 - 31863192 31879046 - 632580;6480464;8554872 10677542 12067718;12477932;12975309;14574404;14656967;14702039;15489334;15715662;16344560;19056867;19448619;19851445;20421499;20466734;20526339;22789125;23651124;24379411;8125298 80736 H0Y5I3;Q53GD3 ABBA01038091;AF134726;AI560195;AI956094;AK027397;AK222998;AK223013;AK300550;AK301596;AK314673;AL662834;AL671762;AL833009;AL844853;AMYH02013456;AY358457;BA000025;BC014659;BX005460;CH471081;CR388202;CR759784;CR936237;DA924720;DC300771;DC392935;NG_023058;NM_001178044;NM_001178045;NM_025257 AAD21813;AAH14659;AAQ88822;BAB55083;BAB63296;BAD96718;BAG62256;BAG63084;CAH56275;EAX03538;EAX03539;NP_001171515;NP_001171516;NP_079533;Q53GD3 Hs.335355 1739635;1848460;1856514;1856516;2106217;2115118;2134988;2189557;2191011;2220320;5015961;5021692;5037552 D15S1477;D15S948E;D6S2052;D6S2924;D8S2279;MARC_12895-12896:999881472:3;MN6S1424;RH46780;RH70238;STS-X69838;UniSTS:237636;WI-19170;ksks210 C6orf29;CTL4;FLJ14491;NG22;TPPT OTTHUMP00000029182;OTTHUMP00000029183;choline transporter-like protein 4;chromosome 6 open reading frame 29 APPROVED protein-coding ENSG00000204385 HGNC:13941 12087 606107 REVIEWED 1604721 SLC44A5 solute carrier family 44, member 5 INVOLVED IN glycerophospholipid biosynthetic process (inferred); phosphatidylcholine biosynthetic process (inferred); phospholipid metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-demecolcine; aflatoxin B1; all-trans-retinoic acid 1 1 1 p31.1 73913149 74316659 - 75667816 76081698 - 75202131 75611114 - 6480464;8554872 12477932;14702039;15489334;15715662;16344560;20379614;21116278;22864933 204962 B7Z473;Q8NCS7 ABBA01074420;ABBA01074421;ABBA01074422;AC093156;AC107627;AC118550;AC118990;AK091400;AK093170;AK128063;AK296924;AK296941;AK299573;AL096829;AMYH02001275;AMYH02001276;AMYH02001277;AMYH02001278;BC028743;BC034580;BC051740;CH471059;CS223377;CS403148;CS403150;DA534406;DA778954;DB450780;DC374918;GM983910;GM983912;KC876880;NM_001130058;NM_152697;XM_006710444;XM_006710445 AAH28743;AAH34580;AAH51740;ABM83384;ABM86596;BAC03655;BAC04084;BAH12456;BAH12459;BAH13070;CAJ46928;CAL40389;CAL40390;CAX21634;CAX21635;EAX06402;EAX06403;NP_001123530;NP_689910;Q8NCS7;XP_006710507;XP_006710508 Hs.654821 1336002;1339682;1679307;1691986;1703834;1731188;1769198;1781382;1782368;1879836;2139896;2162725;2169173;2176395;2179050;5093238;7186517 A009K04;AFM294wg1;AL033645;D1S333;D1S464;D1S481;G32601;G34832;REN10606;RH64655;RH70455;SHGC-106433;SHGC-152136;SHGC-33741;SHGC-79068;WI-15157 CTL5;FLJ34081;MGC34032 OTTHUMP00000011292;OTTHUMP00000011329;choline transporter-like protein 5 protein-coding ENSG00000137968 HGNC:28524 14580 VALIDATED 733072 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008] 2 2 2 q32 184020234 184040455 - 190425316 190448478 - 189560590 189583752 - 6480464;7240710;8554872 10693807;10747949;10828623;10882071;11076863;11230166;11256614;11431687;11518736;11774199;11783942;11897618;11925460;12091366;12091367;12123233;12161425;12376346;12406098;12477932;12730114;12857562;12865285;12873829;14636642;14636643;14702039;14757427;14768003;15075083;15338274;15466004;15489334;15489336;15514116;15692071;15727899;15831700;15894659;15897636;15935710;15942076;15956209;16169070;16274220;16280445;16330432;16344560;16351644;16381901;16648237;16885049;17042772;17135308;17276706;17383046;17475779;17486601;17490902;17847004;17997113;18160317;18160816;18177470;18586377;18646536;18680715;18782341;18820912;19066423;19150361;19234114;19589941;19610021;19709084;19759876;19787796;19846751;19937651;19958990;20007457;20230395;20460119;20564534;20587610;20655381;20686179;20688958;20691492;20739079;21094556;21126372;21199650;21231898;21303654;21396368;21607294;21890473;22137264;22170436;22178646;22246570;22249207;22357659;22682226;22682227;22776295;22890139;23012398;23065513;23178444;23335088;23630227;23640881;23680252;23784628;23846698;23996061;24304836;24360312;24644245;24859227;8125298 30061 E7EQF8;E7ES28;Q4PNE6;Q9NP59 ABBA01062379;AC013439;AF147322;AF171087;AF215636;AF226614;AF231121;AJ609539;AJ609540;AK002038;AK223236;AK292146;AK314827;AL136944;AMYH02005427;BC035893;BC037733;CH471058;CQ977117;CR533564;DA806565;DQ065759;DQ065760;DQ065761;DQ065762;DQ065763;DQ065764;NG_009027;NM_014585;XM_005246504;XM_005246505 AAF36697;AAF44330;AAF80986;AAH35893;AAH37733;AAQ13603;AAX93082;AAY78556;AAY78557;AAY78558;AAY78559;AAY78560;AAY78561;ABM81806;ABM84960;BAA92049;BAD96956;BAF84835;BAG37348;CAB66878;CAE81347;CAE81348;CAG38595;CAI45360;CAL38155;EAX10901;EAX10902;NP_055400;Q9NP59;XP_005246561;XP_005246562 Hs.643005 1643848;1793322;1849552;2108929;2123758;2134097;2137249;2148581;2151865;2173471;5093820 A002Q39;A009X19;D2S2575;G32943;PMC209405P1;RH16273;RH36364;SGC34910;SLC40A1_8028;STS-AA011593;WI-16551 FPN1;HFE4;IREG1;MST079;MSTP079;MTP1;SLC11A3 OTTHUMP00000163497;OTTHUMP00000207310;ferroportin 1;ferroportin-1;iron regulated gene 1;iron-regulated transporter 1;putative ferroportin 1 variant IIIA;putative ferroportin 1 variant IIIB;solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3;solute carrier family 39 (iron-regulated transporter), member 1;solute carrier family 40 member 1 APPROVED protein-coding ENSG00000138449 HGNC:10909 05229 604653;606069 REVIEWED 1323779 SLC43A3 solute carrier family 43, member 3 INVOLVED IN transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine; aflatoxin B1 11 11 11 q11 54531012 54551638 - 57174427 57195053 - 57406954 57427580 - 6480464 11704567;12477932;16303743;21890473;21906983;21963094;21987572;21988832;22412388;22505724;23000965;24816145;25015289;7531438 29015 B0AZP8;B4DV87;E9PJL1;E9PJL3;E9PJT6;E9PKW3;E9PL23;E9PLF2;E9PLP1;E9PLW1;E9PMZ1;E9PNM4;E9PPE4;E9PR64;E9PR94;E9PS74;E9PSH9;H0YD64;Q8NBI5 AB028927;ABBA01021471;AF118070;AK075552;AK290391;AK298028;AK300977;AK311394;AK311401;AK315839;AL157431;AMYH02024843;AP000781;BC003163;BC064137;BG391025;CH471076;CQ834210;CR457391;DC347054;HY120731;NM_001278201;NM_001278206;NM_014096;NM_017611;NM_199329 AAF22014;AAH03163;ACE86870;ACE87558;BAB82466;BAC11695;BAF83080;BAF98730;BAG60330;BAG62599;CAB75655;CAG33672;CAH05320;EAW73741;EAW73742;EAW73744;EAW73745;EAW73746;NP_001265130;NP_001265135;NP_054815;NP_060081;NP_955361;Q8NBI5 Hs.99962 1774075;1774077;1856867;5019709;5491529 A009H48;G32558;MARC_17103-17104:1023890756:1;RH47191;SGC32746 DKFZp762A227;EEG1;FOAP-13;PRO1659;SEEEG-1 OTTHUMP00000235049;OTTHUMP00000235050;OTTHUMP00000235051;OTTHUMP00000235120;OTTHUMP00000235121;OTTHUMP00000235122;likely ortholog of mouse embryonic epithelial gene 1;solute carrier family 43 member 3 protein-coding ENSG00000134802 HGNC:17466 15391 VALIDATED 1601745 SLC44A2 solute carrier family 44 (choline transporter), member 2 ENCODES a protein that exhibits signal transducer activity; INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; signal transduction; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; lysosomal membrane; INTERACTS WITH 17beta-estradiol; 4-phenylbutyric acid; arsane 19 19 19 p13.1 10607867 10649985 + 10713121 10755235 + 10602445 10644559 + 6480464;8554872 10677542;12477932;12761501;14702039;14973250;15489334;15715662;16303743;16344560;17897319;17926100;18029348;19056867;20037594;20040764;20410607;20665236;21048031;21564101;21906983;22040064;22211383;22414054;23398146;24250222;8619474;9110174 57153 K7EMN3;K7EMR2;K7EPV6;K7ER17;K7ESF5;K7ESP7;Q8IWA5 ABBA01029908;ABBA01029909;ABBA01029910;AC011475;AF070636;AF258549;AJ245621;AK027519;AK075512;AK126550;AK294118;AK309801;AK314582;AL832517;AL832978;AMYH02035499;AMYH02035500;BC010617;BC020511;BC040556;BC042692;BI602883;CH471106;DA628435;DA673268;DA749803;FN668568;NM_001145056;NM_020428;XM_005259997;XM_005259998;XM_005259999 AAG23752;AAH10617;AAH40556;BAC11662;BAG37158;BAG51335;BAG54343;BAG57451;CAB75542;CAH56342;CAH56352;CBJ93592;EAW84126;EAW84127;EAW84128;EAW84129;NP_001138528;NP_065161;Q8IWA5;XP_005260054;XP_005260055;XP_005260056 Hs.534560 1652218;1658525 STS-R73494;STS-W46600 CTL2;DKFZp666A071;FLJ44586;PP1292 choline transporter-like protein 2;solute carrier family 44, member 2 APPROVED protein-coding ENSG00000129353 HGNC:17292 16198 606106 VALIDATED 731828 SLC45A1 solute carrier family 45, member 1 This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014] 1 1 1 p36.23 7492236 7512007 + 8378171 8404227 + 8318111 8344167 + 1580863;6480464;8554872 10729226;16710414;22321011;23453885 50651 Q9Y2W3 ABBA01035514;AF118274;AL356072;AMYH02000211;CH471130;NG_034025;NM_001080397;XM_005263467 AAD27583;AAI56141;AAI56981;EAW71597;NP_001073866;Q9Y2W3;XP_005263524 Hs.463036 1707700;1750599;2106469;2181632 DNB5__4762;RH36035;SHGC-111898;SHGC-82023 DNB5;DNb-5;FLJ26758;KIAA0458;PAST-A H+/sugar symporter;OTTHUMP00000000552;deleted in neuroblastoma 5 protein;proton-associated sugar transporter A protein-coding ENSG00000162426 HGNC:17939 605763 REVIEWED 1602189 SLC44A3 solute carrier family 44, member 3 INVOLVED IN glycerophospholipid biosynthetic process (inferred); phosphatidylcholine biosynthetic process (inferred); phospholipid metabolic process (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 1 1 1 p21.3 93540360 93615267 + 95285898 95360803 + 94820342 94895247 + 6480464 10677542;12477932;12975309;15489334;15715662;16344560;16710414;19850743;20379614;21906983;22238593;23934736 126969 E9PIC5;F8W7F3;H0YD35;H0YDW5;Q8N4M1 ABBA01045503;AC093429;AK300193;AK301288;AK302381;AK303906;AK313574;AK316123;AL359554;AL530322;AL540829;AMYH02001509;AY358659;BC033858;BC040448;BC053877;BX648225;CH471097;DA538278;DB331517;DC311042;NM_001114106;NM_001258340;NM_001258341;NM_001258342;NM_001258343;NM_001301079;NM_152369;XM_005270440;XM_005270441;XM_005270442;XM_005270443 AAH33858;AAH53877;AAQ89022;ADR82679;BAG61966;BAG62846;BAG63698;BAG64836;BAH14494;CAC36091;EAW73030;EAW73031;EAW73032;EAW73033;EAW73034;EAW73035;EAW73036;EAW73037;EAW73038;NP_001107578;NP_001245269;NP_001245270;NP_001245271;NP_001245272;NP_001288008;NP_689582;Q8N4M1;XP_005270497;XP_005270498;XP_005270499;XP_005270500 Hs.483423 1709000;1755433;1788412 SHGC-142306;SHGC-79565;fb74a12.x1 CTL3;MGC45474 OTTHUMP00000012419;OTTHUMP00000012421;OTTHUMP00000228722;OTTHUMP00000228723;OTTHUMP00000228724;OTTHUMP00000228726;choline transporter-like protein 3;solute carrier family, member 3 protein-coding ENSG00000143036 HGNC:28689 14637 VALIDATED 1346444 SLC45A3 solute carrier family 45, member 3 INVOLVED IN transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 17beta-hydroxy-5alpha-androstan-3-one 1 1 1 q32.1 178763140 178785789 - 205626979 205649630 - 205657851 205680502 - 61503;1580863;6480464 10613842 11245466;12477932;14997204;15048720;15176054;15489334;16344560;17721190;18172298;18193184;19136943;19649210;19915576;20118910;21738478;21777423;22719019;22821757;23269536 85414 Q96JT2 ABBA01027407;ABBA01027408;AC096533;AK290364;AK313479;AL832933;AMYH02002550;AX327336;AX505133;AY033593;BC050416;CH471067;DA759616;JA897589;NM_033102;XM_005245556;XM_005245557;XM_005245558;XM_005245559;XM_005245560 AAH50416;AAK54386;BAF83053;BAG36263;CAD20424;CAD48814;CAH56282;CCV01468;EAW91575;EAW91576;EAW91577;NP_149093;Q96JT2;XP_005245613;XP_005245614;XP_005245615;XP_005245616;XP_005245617 Hs.278695 1692610 AL033941 IPCA-2;IPCA-6;IPCA-8;IPCA6;PCANAP2;PCANAP6;PCANAP8;PRST OTTHUMP00000035340;prostate cancer associated protein 2;prostate cancer associated protein 6;prostate cancer associated protein 8;prostate cancer-associated gene 2;prostate cancer-associated gene 6;prostate cancer-associated gene 8;prostate cancer-associated protein 6;prostein;solute carrier family 45 member 3 protein-coding ENSG00000158715 HGNC:8642 16312 605097 VALIDATED 1607016 SLC45A4 solute carrier family 45, member 4 INVOLVED IN transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 8 8 8 q24.3 138389005 138406794 - 142217273 142310241 - 141207166 141300139 - 6480464 10574461;12477932;21906983;21926972 57210 B2RXG1;E5RGN5;E5RJM7;E7EV90;Q5BKX6 AB032952;ABBA01013683;AC011676;AI769055;AK128212;AL137490;AL713711;AMYH02018901;AMYH02018902;BC007262;BC033223;BC090891;BC157840;BC171836;CH471060;CX166285;NM_001080431;NM_001286646;NM_001286648;XM_006716604;XM_006716605 AAH33223;AAH90891;AAI57841;AAI60000;BAA86440;BAC87328;EAW92222;EAW92224;NP_001073900;NP_001273575;NP_001273577;Q5BKX6;XP_006716667;XP_006716668 Hs.372492 1684244;1771771;1848557;2117868 RH93689;SGC32017;STS-N29778;WI-18501 KIAA1126 OTTHUMP00000226604;OTTHUMP00000226789;OTTHUMP00000226790;solute carrier family 45 member 4 protein-coding ENSG00000022567 HGNC:29196 VALIDATED 1315452 SLC45A2 solute carrier family 45, member 2 This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 5 5 5 p13.2 33833208 33873213 - 33944721 33984780 - 33944616 33984675 - 1580863;6480464;7240710;8554872;8699517 11221837;11479596;11574907;11916009;12477932;14722913;14961451;15455243;15489334;15656822;15714523;16847698;16868655;17044855;17081065;17207965;17358008;17516931;17768386;17999355;18326704;18463683;18483556;18563784;18650849;18683857;18806926;18986462;19060277;19340012;19384953;19578363;19710684;19865097;19913121;19916045;20301683;20381161;20457063;20585627;20628086;20861488;21287499;21559390;21677667;21983787;22042571;22294196;22464347;22490798;23165166;23190901;23660638;24096233;24118800 51151 D6RBP8;D6RGY6;Q9UMX9 ABBA01066761;AC139777;AC139783;AF172849;AMYH02011144;BC003597;BC064405;BQ677785;BU166522;CH471118;NG_011691;NM_001012509;NM_001297417;NM_016180;XM_005248311 AAD51812;AAH03597;AAH64405;ADQ32605;EAX10811;EAX10812;EAX10813;EAX10814;NP_001012527;NP_001284346;NP_057264;Q9UMX9;XP_005248368 Hs.278962 1663584;1757993;1760257;1774873;1781094;2158882;2176477;7186223 D5S1430;RH16380;SHGC-132566;SHGC-147068;SHGC-36018;SHGC-56588;STS-N23139 1A1;AIM1;MATP;OCA4;SHEP5 OTTHUMP00000115892;OTTHUMP00000155209;OTTHUMP00000221214;OTTHUMP00000221215;melanoma antigen AIM1;membrane associated transporter;membrane-associated transporter protein;protein AIM-1;underwhite APPROVED protein-coding ENSG00000164175 HGNC:16472 05865 227240;606202;606574 REVIEWED 1321413 SLC46A2 solute carrier family 46, member 2 INVOLVED IN negative regulation of T cell apoptotic process (inferred); regulation of T cell differentiation (inferred); T cell homeostasis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cell surface (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH benzo[a]pyrene; diazinon; medroxyprogesterone acetate 9 9 9 q32 86314093 86326088 + 115641200 115653193 - 112878920 112890913 - 6480464;8554872 10706709;10978518;12477932;12826694;14702039;15489334;16344560;17207965;18392855 57864 Q9BY10;S4R3Y2 ABBA01042692;AF242557;AK055571;AK314414;AL139041;AMYH02021495;BC048285;CH878453;DA593062;NM_033051;XM_005252116 AAH48285;AAK28343;ADQ33085;BAB70960;BAG37035;EAW50550;EAW50551;EAW50552;NP_149040;Q9BY10;XP_005252173 Hs.512668 Ly110;TSCOT OTTHUMP00000021945;thymic stromal co-transporter;thymic stromal cotransporter homolog protein-coding ENSG00000119457 HGNC:16055 16411 608956 VALIDATED 1606750 SLC46A1 solute carrier family 46 (folate transporter), member 1 This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013] 17 17 17 q11.2 23583422 23594992 - 26721661 26733230 - 28394642 28406212 - 6480464;7240710;7242557;7242426;7327184;8554872;8699517 20814827;21149507;22108709 12477932;14702039;15489334;16143108;16344560;17129779;17156779;17335806;17446347;17475902;17947394;18003745;18187620;18650265;18718264;18817749;18842806;19074442;19176287;19371039;19389703;19403800;19508863;19581412;19643086;19762432;19913121;20005757;20036773;20225891;20301716;20628086;20686069;20724482;20795774;20805364;21256110;21333572;21338559;21489556;21602279;21890473;21906983;21963094;22179615;22345511;22496243;22785121;22843796;22954694;23313509;23552283;23601781;23609145;23656756 113235 J3KTE6;J3QL21;J3QRF7;K7EPJ7;Q96NT5 ABBA01015059;AC002094;AC015917;AK054669;AK074161;AK097194;AK295883;AL832613;AMYH02033223;BC010691;BC022100;BC065365;CH471159;CQ834412;DA013269;DA188147;DA436636;DA527125;DB121588;DQ496103;NG_013306;NM_001242366;NM_080669;XM_005277786 AAH10691;ABF47092;ADZ16056;BAB70789;BAB84987;BAG58679;CAD89945;CAH05421;EAW51085;EAW51086;EAW51087;EAW51088;EAW51089;NP_001229295;NP_542400;Q96NT5;XP_005277843 Hs.446689 1660570;1672648;2219666 SARM1__5545;SHGC-30073;SHGC-57890 FLJ39875;G21;HCP1;MGC9564;PCFT;PCFT/HCP1 heme carrier protein 1;proton-coupled folate transporter;solute carrier family 46 member 1 APPROVED protein-coding ENSG00000076351 HGNC:30521 14715 229050;611672 REVIEWED 1606669 SLC46A3 solute carrier family 46, member 3 INVOLVED IN transmembrane transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; cyclosporin A; isotretinoin 13 13 13 q12.3 10349991 10368926 - 29274217 29293150 - 28700080 28719013 - 6480464;8554872 12477932;14702039;16344560;19056867;19284880;20708005;23251661;8889548 283537 Q7Z3Q1 ABBA01035723;AF315594;AK093932;AK098426;AK124604;AL359454;AMYH02027770;BC036662;BC060850;BC068556;BX537565;CB851220;CD237026;CH471075;DA496545;DB073710;NM_001135919;NM_181785;XM_005266361 AAH36662;AAH60850;AAH68556;AAL18405;BAC85896;BAG52789;CAD97783;EAX08436;EAX08437;EAX08438;NP_001129391;NP_861450;Q7Z3Q1;XP_005266418 Hs.117167 1681207;1762081;5037552 D8S2279;RH93198;SHGC-145990 FKSG16;FLJ42613;RP11-97E23.2 OTTHUMP00000018184;OTTHUMP00000178553;solute carrier family 46 member 3 protein-coding ENSG00000139508 HGNC:27501 14146 VALIDATED 1604345 SLC48A1 solute carrier family 48 (heme transporter), member 1 ENCODES a protein that exhibits heme transporter activity (inferred); INVOLVED IN heme transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN endosome (inferred); integral component of membrane (inferred); lysosome (inferred); INTERACTS WITH 5-fluorouracil; aflatoxin B1; all-trans-retinoic acid 12 12 12 q13.11 46964517 46974086 + 48152426 48176536 + 47758722 47782753 + 6480464;8554872 12477932;18418376;19322201;19875448;19913121;20628086;21555518;21832049;22174408;23263486;23395172 55652 F8VQX9;F8VXV4;F8W1R8;Q6P1K1 ABBA01031468;AC004241;AC004466;AC137054;AK000496;AK025856;AK294075;AMYH02026416;BC002759;BC011823;BC026344;BC065033;BI548780;CH471111;NM_017842;XM_005269016 AAH02759;AAH26344;AAH65033;BAA91205;BAG57417;EAW57950;EAW57951;NP_060312;Q6P1K1;XP_005269073 Hs.438867 1681925;2128171;5017433 RH93449;STS-H18096;STS-T76997 FLJ20489;HRG-1;HRG1;hHRG-1 OTTHUMP00000211237;heme transporter HRG1;heme-responsive gene 1 protein homolog;solute carrier family 48 member 1 protein-coding ENSG00000211584 HGNC:26035 07916 612187 VALIDATED 1603576 SLC47A2 solute carrier family 47 (multidrug and toxin extrusion), member 2 This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16994973 17033389 - 19581626 19622990 - 19678313 19719671 - 6480464;7794727 22722338 11181995;12477932;14702039;16330770;16344560;16807400;16996621;17509534;19158817;20016398;20047987;20067714;20379614;22558177;23267855;23630107;8889548 146802 C9JAE6;Q86VL8 AB250364;AB250701;ABBA01054597;ABBA01054598;ABBA01054599;AC005722;AK055758;AK096080;AK123589;AK307647;AK310218;AMYH02033169;BC035288;BC050578;BC062614;BG432484;BM924669;BM930596;BX648861;CH471212;DA312379;NM_001099646;NM_001256663;NM_152908;XM_005256472;XM_006721453;XM_006721454;XM_006721455;XM_006721456;XM_006721457;XR_243543;XR_429809;XR_429810 AAH35288;AAH50578;BAF36847;BAF37007;CAH56154;EAW50901;EAW50902;EAW50903;EAW50904;EAW50905;EAW50906;EAW50907;NP_001093116;NP_001243592;NP_690872;Q86VL8;XP_005256529;XP_006721516;XP_006721517;XP_006721518;XP_006721519;XP_006721520 Hs.126830 FLJ31196;MATE-2;MATE2;MATE2-B;MATE2-K;MATE2K;hMATE-2 H+/organic cation antiporter;OTTHUMP00000065788;OTTHUMP00000065789;OTTHUMP00000065790;OTTHUMP00000065791;kidney-specific H(+)/organic cation antiporter;multidrug and toxin extrusion 2;multidrug and toxin extrusion protein 2;solute carrier family 47, member 2 APPROVED protein-coding ENSG00000180638 HGNC:26439 08710 609833 VALIDATED 1605371 SLC47A1 solute carrier family 47 (multidrug and toxin extrusion), member 1 This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16849963 16895249 + 19437167 19482346 + 19533854 19579033 + 6480464;8548480;7794727;8554872 22722338;24278698 11997338;12477932;14702039;16330770;16928787;16996621;17047166;17495125;17509534;17855482;18305230;19158817;19172157;19228809;19536068;19745787;19898263;20016398;20047987;20053795;20067714;20682687;21128598;22242910;22569819;22722930;22735389;22882994;23267855;23303678;23630107;23864433;8125298 55244 B4DYV3;E7EX57;I3L345;J3KRZ3;J3KSS8;Q96FL8 ABBA01054603;ABBA01054604;AC025627;AK001709;AK222625;AK225360;AK293196;AK298254;AK301854;AK302620;AK304647;AK310270;AMYH02033168;BC010661;BC050592;BC058882;CH471212;NM_018242 AAH10661;AAH50592;AAH58882;BAA91852;BAD96345;BAG56736;BAG60519;BAG63296;BAG63865;BAG65424;EAW50893;EAW50894;EAW50895;NP_060712;Q96FL8 Hs.232054 2137633;5022651 D11S2921;STS-W85883 FLJ10847;MATE-1;MATE1;MGC64822;hMATE-1 OTTHUMP00000065792;OTTHUMP00000065793;multidrug and toxin extrusion 1;multidrug and toxin extrusion protein 1;solute carrier family 47, member 1 APPROVED protein-coding ENSG00000142494 HGNC:25588 07703 609832 VALIDATED 8548695 SLC4A1APP2 solute carrier family 4 (anion exchanger), member 1, adaptor protein pseudogene 2 1 1 1 160784408 160786335 + 187675684 187677613 + 187706553 187708482 + 100422527 ABBA01027697;AL357559;AMYH02002327;NG_027181 pseudo HGNC:49812 INFERRED 733302 SLC4A2 solute carrier family 4 (anion exchanger), member 2 ENCODES a protein that exhibits anion transmembrane transporter activity (inferred); chloride transmembrane transporter activity (inferred); inorganic anion exchanger activity (inferred); INVOLVED IN anion transport (inferred); bicarbonate transport (inferred); chloride transmembrane transport (inferred); PARTICIPATES IN bile acid transport pathway; FOUND IN focal adhesion; membrane; INTERACTS WITH arsenous acid; boric acid; dexamethasone 7 7 7 q36.1 145313966 145330946 + 150755299 150773614 + 151058212 151076527 + 1580863;6480464;6907045 10452823;10491290;10491633;10577919;10623603;10820026;11156694;11208611;11248201;11842009;11852051;12225956;12477932;14575719;15489334;1562608;16344560;17058451;17652430;18438347;18676680;18781797;18930330;19170196;19224338;19491853;19625176;19692168;19913121;19946888;20180022;20379614;20424473;20628086;21139048;21594562;21691115;21890473;21906983;21963094;21987572;22053931;22383162;22802585;23121767;23275563;24816145;2968981;3015590;3020980;7626035;7984058;8434259;8889548;9027488;9477304;9587054 6522 C9J035;C9J459;C9J722;C9J9M9;C9JVC2;J3KNG9;P04920;Q59GF1;Q6PJY3 AB209158;ABBA01035167;AC010973;AK295767;AK296065;AK312699;AMYH02017067;AMYH02017068;BC004893;BC009386;BC009434;BC010069;BC028601;BC128111;BM680391;CH471173;CV807529;DA103528;DA699325;DQ149844;NM_001199692;NM_001199693;NM_001199694;NM_003040;U62531;U76669;X03918;X62137;XM_006716094 AAC50964;AAF19583;AAF19584;AAF23240;AAH04893;AAH09386;AAH09434;AAH10069;AAH28601;AAZ38724;ABM87511;ABW03897;BAD92395;BAG35577;BAG58592;BAH12249;CAA27556;CAA44067;EAW54044;EAW54045;EAW54046;EAW54047;EAW54048;NP_001186621;NP_001186622;NP_001186623;NP_003031;P04920;XP_006716157 Hs.647069 1769238;2121947;2148951 RH48801;RH71298;STS-X62137 AE 2;AE2;BND3L;EPB3L1;FLJ59028;HKB3;NBND3 OTTHUMP00000212940;OTTHUMP00000212941;OTTHUMP00000212942;OTTHUMP00000212943;anion exchange protein 2;anion exchanger 2 type a;anion exchanger 2 type b1;anion exchanger 2 type b2;erythrocyte membrane protein band 3-like 1;non-erythroid band 3-like protein;solute carrier family 4 member 2;solute carrier family 4, member 2 APPROVED protein-coding ENSG00000164889 HGNC:11028 02728 109280 VALIDATED 8548762 SLC4A1APP1 solute carrier family 4 (anion exchanger), member 1, adaptor protein pseudogene 1 9 9 9 p21.1 30487704 30488302 - 30558881 30559479 - 30558883 30559481 - 100288436 ABBA01065101;AL390844;AMYH02019390;NG_021610 pseudo HGNC:49811 INFERRED 1348028 SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] 2 2 2 q24.2 156091092 156452030 + 162480699 162841786 + 161624189 161985276 + 6480464;7240710;8554872 10965143;10993873;12477932;15815621;17363630;18165320;18319254;18413482;20101282;20331378;20379614;21906983;23443559 57282 C9J240;E7EW28;F8WDX9;Q6U841 AB040457;ABBA01004889;ABBA01004890;AC008063;AC062022;AC092841;AC096654;AK293793;AK294767;AK308529;AK309839;AL713680;AL832525;AMYH02005091;AMYH02005092;AMYH02005093;AMYH02005094;AY376402;BC036415;BC038298;BC051190;BC136269;BC143714;CA841736;CH471058;DC337667;NG_021401;NM_001178015;NM_001178016;NM_022058;XM_005246693;XM_005246694;XM_005246695;XM_005246696;XM_006712641;XM_006712642;XM_006712643 AAI36270;AAI43715;AAQ83632;AAX88962;AAX93124;BAB18301;BAH11596;BAH11876;CAD28484;CAD38630;EAX11363;EAX11364;NP_001171486;NP_001171487;NP_071341;Q6U841;XP_005246750;XP_005246751;XP_005246752;XP_005246753;XP_006712704;XP_006712705;XP_006712706 Hs.333958 1701096;1703992;1705014;1728333 G63448;RH104176;SHGC-77777;SHGC-78023 NBCn2;NCBE OTTHUMP00000204671;OTTHUMP00000204674;OTTHUMP00000207305;OTTHUMP00000207306;OTTHUMP00000207307;OTTHUMP00000207308;sodium-driven chloride bicarbonate exchanger;solute carrier family 4, sodium bicarbonate cotransporter-like, member 10 APPROVED protein-coding ENSG00000144290 HGNC:13811 605556 REVIEWED 735716 SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2 This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010] 11 11 11 q13 59946914 59979926 + 62623484 62656355 + 62856012 62888883 + 1580863;6480464;8554872 10506149;10574970;10631289;10673541;10863037;10903140;11311135;11406111;11435306;11507094;11696247;11742812;11749697;11840567;12181350;12235164;12270127;12477932;12493773;12531285;12716892;12740424;12754519;12925876;1358795;14527684;14702039;15146197;15178563;15231747;15274339;15458438;15485886;15489334;15556631;15625115;15713750;15782160;15901826;16196087;16335952;16344560;16712791;16785209;16799092;17023546;17081065;17081983;17353931;17451431;17558306;17611393;17724034;18032696;18054915;18195088;18660501;18781797;18813831;19018776;19056867;19065266;19171406;19562367;19581412;19738201;19777189;19808856;19913121;19922591;19946888;20091333;20628086;20811665;20972266;21139048;21145461;21252943;21270293;21282044;21352957;21486766;21670318;21693764;21750865;21757542;21890473;21906983;21963094;21987572;22053931;22077314;22118674;22234250;22291182;22304920;22360420;22499670;22505724;22678362;22797925;22939629;23000965;23272174;23297381;23383273;23438482;23651923;23940088;2416754;24250222;24337577;24359579;24484217;24516142;24583282;24639526;24654937;24816145;25027693;3036867;3265470;3265471;3476959;3480538;3782435;6177771;6187076;6190235;7204970;7561057;8125298;8619474;8922468;8938448;9110174;9403839;9751058;9829974;9878049 6520 F5GZI0;F5GZR9;F5GZS6;F5H056;F5H0E2;F5H867;H0YFS2;H0YFX4;H0YH36;J3KPF3;P08195 AA594112;AB018010;ABBA01003246;ABBA01003247;ABBA01003248;ABBA01003249;AF055031;AK025584;AK090758;AK094620;AK225304;AK304497;AK304685;AK308797;AK311592;AMYH02024901;AMYH02024902;AMYH02024903;AP001160;AU143131;BC001061;BC003000;BE018712;BQ128156;BU556953;BX362778;BX443653;CA453972;CB138799;CB151304;CH471076;CN302816;DC395235;J02769;J02939;J03569;M21904;NM_001012662;NM_001012664;NM_001013251;NM_002394;NR_037193 AAA35489;AAA35536;AAA51540;AAA52497;AAH01061;AAH03000;ACE87015;ACE87703;BAA84649;BAG65305;BAG65456;EAW74118;EAW74119;EAW74120;EAW74121;EAW74122;EAW74123;NP_001012680;NP_001012682;NP_001013269;NP_002385;P08195 Hs.502769 1685686;1742525;1769866;1852894;2132004;2155957;2183810;2219698 AF081279;D11S1010;G15889;GDB:197851;MDU1;RH17582;RH98739;SLC3A2_2672 4F2;4F2HC;4T2HC;CD98;CD98HC;MDU1 4F2 cell-surface antigen heavy chain;4F2 heavy chain antigen;CD98 heavy chain;NACAE;OTTHUMP00000082735;OTTHUMP00000236708;OTTHUMP00000236709;OTTHUMP00000236712;OTTHUMP00000238367;antigen defined by monoclonal antibody 4F2, heavy chain;antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43;heavy chain;lymphocyte activation antigen 4F2 large subunit;monoclonal antibody 44D7;solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2;solute carrier family 3 member 2;solute carrier family 3, member 2 APPROVED protein-coding ENSG00000168003 HGNC:11026 01148 158070 REVIEWED 1320941 SLC4A11 solute carrier family 4, sodium borate transporter, member 11 This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010] 20 20 20 p12 3270026 3281861 - 3208063 3222109 - 3227417 3239241 - 1580863;6480464;7240710;8554872;8699517 10209448;10512674;11302728;11780052;11836359;12477932;12654361;14702039;15525507;16767101;16825429;17220209;17262014;17397048;17667634;17679935;18024964;18363173;18474783;19369245;20118786;20144242;20848555;21203343;21288032;21906983;21963094;22072594;22447871;23462747;23615275;23813972;23864606;23922488;24348007;24351571;8889548 83959 Q8NBS3;V9GXZ2;V9GYK6 ABBA01053818;AF336127;AK075303;AK091157;AK296508;AK296760;AL109976;AMYH02036595;BC110540;BC110541;BM666654;CA312226;CH471133;DC341640;NG_017072;NM_001174089;NM_001174090;NM_032034;XM_005260856;XM_005260857;XR_430272 AAI10541;AAI10542;AAK16734;BAC11536;BAG59140;BAG59341;EAX10535;EAX10536;EAX10537;EAX10538;EAX10539;NP_001167560;NP_001167561;NP_114423;Q8NBS3;XP_005260913;XP_005260914 Hs.105607 1335497;1336801;1337010;1338765;1357241;2108503;5021722;7183697;7187790 D20S113;D20S179;D20S482;D20S882;D20S889;SLC4A11_8111;ksks428 BTR1;CDPD;CDPD1;CHED2;MGC126418;MGC126419;NABC1;dJ794I6.2 OTTHUMP00000030096;OTTHUMP00000030097;bicarbonate transporter related protein 1;sodium bicarbonate transporter-like protein 11;sodium-coupled borate cotransporter 1;solute carrier family 4, sodium bicarbonate transporter-like, member 11 APPROVED protein-coding ENSG00000088836 HGNC:16438 15392 217400;217700;610206;613268 REVIEWED 733142 SLC4A3 solute carrier family 4 (anion exchanger), member 3 ENCODES a protein that exhibits inorganic anion exchanger activity (inferred); INVOLVED IN anion transport (inferred); bicarbonate transport (inferred); ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); membrane (inferred); INTERACTS WITH boric acid; 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 2 2 2 q36 214262260 214276669 + 220492292 220506702 + 219627570 219641980 + 1580863;6480464;8554872 10362722;10732805;11208611;11248201;11606574;11739292;11842009;11875255;11875273;11994299;12027221;12477932;19605733;19854014;21139048;2686841;7923606;8001971;8227202 6508 E9PCP1;F8WD49;H7C160;H7C1Z2;P48751 ABBA01023838;AC009955;AK226122;AK289974;AK299109;AK299595;AK309025;AK314083;AMYH02005828;AY142112;BC136384;BC146656;BC171760;CH471063;KF459589;L27213;NM_005070;NM_201574;NR_048551;U05596;U05597;X70797;X87211;XM_005246789;XM_005246790;XM_006712703;XM_006712704;XM_006712705;XM_006712706 AAA50748;AAA50749;AAB05850;AAI36385;AAI46657;AAI71760;AAN34939;BAF82663;BAG61165;BAG61527;CAA50067;CAA60670;EAW70777;EAW70778;NP_005061;NP_963868;P48751;XP_005246846;XP_005246847;XP_006712766;XP_006712767;XP_006712768;XP_006712769 Hs.1176;Hs.684906 1799300;1800230;1800232;1806388;1806568;1807064;1808566;1811188;1818716;1820388;1821110;1823228;1826476;1827102;1827558;1829426;1829666;1830234;1841652;1844842;1965520;1965522;1965524;1965526;1965528;1965530;1965532;1965534;1965536;1965538;1965540;1965542;1965544;1965546;1965548;1965550;1965552;1965554;1965556;1965558;1965560;1965562;1965564;1965566;1965568;1965570;1965572;1965574;1965576;1965578;1965580;1965582;1965584;1965586;1965588;1965590;1965592;1965594;1965596;1965598;1965600;1965602;1965604;1965606;1965608;1965610;1965612;1965614;1965616;1965618;1965620;1965622;1965624;1965626;1965628;1965630;1965632;1965634;1965636;1965638;1965640;1965642;1965644;1965646;1965648;1965650;1965652;1965654;1965656;1965658;2142895;2214150;2214152;2214154;2214156;2214158;2214160;2214162;2214164;2214166;2214168 D2S2848;ECD00498;ECD00973;ECD00974;ECD04150;ECD04241;ECD04497;ECD05265;ECD06592;ECD10422;ECD11269;ECD11632;ECD12703;ECD14352;ECD14666;ECD14896;ECD15844;ECD15965;ECD16251;ECD22023;ECD23637;REN53635;REN53636;REN53637;REN53638;REN53639;REN53640;REN53641;REN53642;REN53643;REN53644;REN53645;REN53646;REN53647;REN53648;REN53649;REN53650;REN53651;REN53652;REN53653;REN53654;REN53655;REN53656;REN53657;REN53658;REN53659;REN53660;REN53661;REN53662;REN53663;REN53664;REN53665;REN53666;REN53667;REN53668;REN53669;REN53670;REN53671;REN53672;REN53673;REN53674;REN53675;REN53676;REN53677;REN53678;REN53679;REN53680;REN53681;REN53682;REN53683;REN53684;REN53685;REN53686;REN53687;REN53688;REN53689;REN53690;REN53691;REN53692;REN53693;REN53694;REN53695;REN53696;REN53697;REN53698;REN53699;REN53700;REN53701;REN53702;REN53703;REN53704;stSG633139;stSG633140;stSG633142;stSG633143;stSG633144;stSG633145;stSG633146;stSG633147;stSG633148;stSG633149 AE 3;AE3;CAE3/BAE3;SLC2C Anion exchanger 3, neuronal;OTTHUMP00000065426;OTTHUMP00000065427;OTTHUMP00000196385;OTTHUMP00000196386;anion exchange protein 3;anion exchanger 3 cardiac isoform;cardiac/brain band 3-like protein;neuronal band 3-like protein;solute carrier family 4 member 3;solute carrier family 4, member 3 APPROVED protein-coding ENSG00000114923 HGNC:11029 00109 106195 VALIDATED 730989 SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012] 3 3 3 p22 27350593 27434523 - 27414212 27525911 - 27372721 27484420 - 1580863;6480464;8554872 10198178;10347222;10600945;12403779;12444018;14578046;14736710;15144186;15324660;16301216;16344560;17353931;17624982;18976975;19330027;20095854;20145138;20453838;20542029;21139048;21224233;21263130;21890473;21906983;21909110;21909115;21963094;21987572;22120673;22383045;22907202;23117855;23535729;9610397 9497 C9JRP1;E9PFN4;H7C3C4;Q9Y6M7 AA569234;AB012130;ABBA01024999;ABBA01025000;ABBA01025001;ABBA01025002;ABBA01025003;ABBA01025004;AC099535;AF047033;AF053755;AF089726;AK309734;AK310865;AL389947;AL833589;AMYH02006440;AMYH02006441;CH471055;CR627428;DA756057;EU499349;EU934246;EU934247;EU934248;EU934249;EU934250;FJ178574;FJ178575;FJ178576;GU354307;GU354308;GU354309;GU354310;NG_032673;NM_001258379;NM_001258380;NM_003615;XM_005265598;XM_005265599;XM_005265600;XM_005265601;XM_006713421;XR_245166 AAD38322;AAF21720;AAG16773;AAI56214;AAI72463;ACB47400;ACH61958;ACH61959;ACH61960;ACH61961;ACH61962;ACI24740;ACI24741;ACI24742;ADC32649;ADC32650;ADC32651;ADC32652;BAA25898;CAH10515;EAW64381;EAW64382;EAW64383;EAW64384;NP_001245308;NP_001245309;NP_003606;Q9Y6M7;XP_005265655;XP_005265656;XP_005265657;XP_005265658;XP_006713484 Hs.250072 1652631;1668707;1678801;1721589;1728137;1766551;2108931 G59804;G63491;RH92347;SHGC-149867;SHGC-76801;SLC4A7_7948;WI-18242 DKFZp686H168;NBC2;NBC3;NBCN1;SBC2;SLC4A6 OTTHUMP00000208472;OTTHUMP00000208473;OTTHUMP00000208474;OTTHUMP00000208476;OTTHUMP00000208477;OTTHUMP00000208478;OTTHUMP00000208479;OTTHUMP00000208483;OTTHUMP00000208484;OTTHUMP00000208486;bicarbonate transporter;electroneutral Na/HCO(3) cotransporter;sodium bicarbonate cotransporter 2;sodium bicarbonate cotransporter 2b;sodium bicarbonate cotransporter 3;solute carrier family 4 member 7 APPROVED protein-coding ENSG00000033867 HGNC:11033 04521 603353 REVIEWED 1350896 SLC4A7OS solute carrier family 4, sodium bicarbonate cotransporter, member 7 opposite strand 404197 HGNC:21433 730837 SLC4A9 solute carrier family 4, sodium bicarbonate cotransporter, member 9 The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 5 5 5 q31 135816417 135831351 + 139739787 139754722 + 140360202 140375137 + 1580863;6480464;8554872 11302728;11305939;12477932 83697 Q96Q91 AB032762;ABBA01026434;AC008438;AF313465;AF332961;AF336237;AMYH02012331;BC136262;BC143602;CB046220;CH471062;NG_032676;NM_001258426;NM_001258427;NM_001258428;NM_031467;XM_005268521;XM_006714799;XM_006714800 AAI36263;AAI43603;AAK16733;AAK28832;AAK69625;BAA93010;EAW62061;EAW62062;EAW62063;EAW62064;EAW62065;EAW62066;EAW62067;EAW62068;NP_001245355;NP_001245356;NP_001245357;NP_113655;Q96Q91;XP_005268578;XP_006714862;XP_006714863 Hs.550313 AE 4;AE4 OTTHUMP00000223645;OTTHUMP00000223646;OTTHUMP00000223647;OTTHUMP00000223648;anion exchange protein 4;anion exchanger 4;sodium bicarbonate cotransporter 5;solute carrier family 4 member 9;solute carrier family 4, sodium bicarbonate cotransporter-like, member 9 APPROVED protein-coding ENSG00000113073 HGNC:11035 15393 610207 REVIEWED 737027 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 39034465 39054210 - 42325758 42351654 - 44248390 44274286 - 1599007;1580863;6480464;7240710;8554872;8699517 8282779 10364201;10605028;10820026;10926824;10942405;10942416;10950304;11049968;11063570;11155072;11208088;11208611;11380459;11606574;11756190;11831035;11842009;11844997;11876646;11934690;11994299;12070037;12087557;12101015;12149479;12175337;12227829;12446737;12466935;12477932;12482865;12482869;12531814;12539048;12578372;12813056;12898519;12933803;12938018;1352774;1378323;14570914;14604989;14640982;14654610;14695625;1471983;14734552;14736961;14769040;15039022;15067510;15087282;15121092;15182940;1520883;15211439;15252044;1527044;15310273;1538405;15478802;15489334;15500919;15653731;15811326;15813913;15847654;15907563;16013436;16107207;16118313;16227998;16229454;16252102;1639060;16392641;16411779;16420521;16669616;16700540;16718373;16762928;1678289;16849697;16914912;16960783;17027918;17128827;17137217;17205967;1722314;17317744;17361021;1737855;17408468;17453414;17533027;17553790;17554061;17652430;17854772;17941824;17971901;18160114;1824272;18266205;18358003;18524859;18714043;18778682;1885574;18945214;18979639;19029645;19056867;19071041;19229254;19238475;19289107;19294450;19330352;19438409;19460752;19564639;19625994;19722686;19846781;19907019;19913121;1998697;20005958;20007969;20015879;20035734;20062076;20068363;20100494;20132789;20151848;20346715;20424473;20561513;20576809;20628050;20628086;2065070;20691413;20799361;20825599;20828148;20833140;20932077;20960171;21039340;21209359;21246053;21257764;21300752;21455273;21493712;21527529;21543742;21649639;21695904;21761435;21871436;22016805;22126643;22155194;22170767;22214711;22426110;22518001;22580993;22609520;22861190;22919024;23013433;23219802;23251661;23255290;23460825;23583773;23842529;23846695;23878048;24121512;24252324;24920676;24964668;2575590;2594752;2790053;2968981;3223947;3372523;3478298;379653;4027230;6345535;6449514;6615451;695442;701248;7479704;7506871;7530501;7626035;7774942;7812009;7902326;7919393;7949112;8045253;8168533;8206915;8227202;8343110;8434259;8471774;8508760;8527430;8547122;8567957;8578746;8640229;8693505;8704215;8808627;8841202;8943874;8960772;9012689;9191821;9207478;9233560;9312167;9422766;9454576;9600966;9709005;9709782;9734643;9765907;9774471;9845551;9854053;9973643 6521 P02730 AB526447;ABBA01028380;AC003043;AC003102;AM919470;AMYH02033474;AMYH02033475;BC096106;BC096107;BC099628;BC099629;BC101570;BC101574;CH471178;DQ072115;DQ419529;GQ981383;GQ981384;GQ981385;GQ981386;GQ981387;L35930;M16978;M16979;M27819;NG_007498;NM_000342;S68680;X12609;XM_005257592;XM_005257593 AAA35514;AAA51670;AAA51671;AAC60608;AAH96106;AAH96107;AAH99628;AAH99629;AAI01571;AAI01575;AAY57324;ABD74692;ADN39420;ADN39421;ADN39422;ADN39423;ADN39424;BAJ22989;CAA31128;CAP46016;EAW51614;NP_000333;P02730;XP_005257649;XP_005257650 Hs.443948 1649445;1660547;1741205;1796836;2135052;2152997;2158446;5024185 GDB:178577;RH17959;RH46054;RH67779;RH70913;RH79167;SLC4A1_726;WI-16724 AE 1;AE1;BND3;CD233;DI;EMPB3;EPB3;FR;MGC116750;MGC116753;MGC126619;MGC126623;RTA1A;SW;WD;WD1;WR Diego blood group;Froese blood group;OTTHUMP00000210781;Swann blood group;Waldner blood group;Wright blood group;anion exchange protein 1;anion exchanger 1;anion exchanger-1;band 3 anion transport protein;erythrocyte membrane protein band 3;erythroid anion exchange protein;solute carrier family 4 member 1;solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group);solute carrier family 4, anion exchanger, number 1;solute carrier family 4, member 1 APPROVED protein-coding ENSG00000004939 HGNC:11027 00175 109270;110500;112010;112050;179800;601550;601551;611162;611590;612653 REVIEWED 1607017 SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1 ENCODES a protein that exhibits glucoside transmembrane transporter activity; INVOLVED IN glucoside transport; positive regulation of gene expression, epigenetic (ortholog); FOUND IN Golgi apparatus; plasma membrane; endomembrane system (ortholog); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; atrazine 1 1 1 q22 128179725 128182926 + 155107817 155111334 + 155135344 155138858 + 6480464 12477932;14991772;15342556;16344560;17207965;19322201;21107422;22451204;23535732;8630032 55974 Q5SR67;Q9BRV3 ABBA01016716;AF126023;AF126024;AK289551;AL691442;AMYH02001940;BC005943;BC009621;BC010869;BC012378;BC069245;BE958344;BI195885;BI711397;BM806886;BP248307;BU160680;BU564973;BX093804;CH471121;CQ834326;CQ834328;CR457148;DA113832;NM_001122837;NM_001122839;NM_001287586;NM_001287587;NM_001287588;NM_001287589;NM_001287590;NM_001287591;NM_001287592;NM_018845;X84712;XM_005245339;XM_005245340;XM_005245341;XM_005245342;XM_006711453 AAF17232;AAF17233;AAH05943;AAH09621;ADQ31652;BAF82240;CAG33429;CAH05378;CAH05379;EAW53127;EAW53128;EAW53129;EAW53130;NP_001116309;NP_001116311;NP_001274515;NP_001274516;NP_001274517;NP_001274518;NP_001274519;NP_001274520;NP_001274521;NP_061333;Q9BRV3;XP_005245396;XP_005245397;XP_005245398;XP_005245399;XP_006711516 Hs.292154 1692912;1795734;2179794;5014051;5016478;5022200;5037552 AL034168;D8S2278;D8S2279;EFNA1_321;GDB:434012;L18426;STS-W60696 HsSWEET1;RAG1AP1;RP11-540D14.5;SCP;SWEET1;slv OTTHUMP00000033279;OTTHUMP00000033280;OTTHUMP00000033281;OTTHUMP00000033282;RAG1-activating protein 1;RZPDo834D038D;probable sugar transporter RAG1AP1;recombination activating gene 1 activating protein 1;solute carrier family 50 (sugar transporter), member 1;solute carrier family 50 member 1;stromal cell protein;sugar transporter SWEET1 APPROVED protein-coding ENSG00000169241 HGNC:30657 17427 613683 VALIDATED 1604974 SLC51A solute carrier family 51, alpha subunit ENCODES a protein that exhibits transporter activity; protein heterodimerization activity (ortholog); protein homodimerization activity (ortholog); INVOLVED IN transport; bile acid and bile salt transport (ortholog); FOUND IN plasma membrane; endoplasmic reticulum membrane (ortholog); integral component of membrane (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 8-bromo-3',5'-cyclic AMP; budesonide 3 3 3 q29 194523852 194541937 + 195943383 195960301 + 196216512 196233430 + 6480464 12477932;12719432;15563450;16251721;16269519;16317684;16423920;16713569;17332473;18469300;18847488;20538072;21691099;22404213;22535958 200931 C9J2I5;F8WBV2;H7C351;H7C3V2;Q86UW1 ABBA01033723;ABBA01033724;AC069257;AC246794;AK172837;AK300996;AK310276;AY194243;BC029606;CH471191;NM_152672;XM_006713535 AAH29606;AAP23993;BAD18802;BAG62615;EAW53665;NP_689885;Q86UW1;XP_006713598 Hs.630585 1644245;2176497 SGC33919;SHGC-77670 MGC39807;OSTA;OSTalpha OST-alpha;OTTHUMP00000208487;organic solute transporter alpha;organic solute transporter subunit alpha;organic solute transporter, alpha subunit;solute carrier family 51 subunit alpha APPROVED protein-coding ENSG00000163959 HGNC:29955 17810 612084 VALIDATED 1604245 SLC51B solute carrier family 51, beta subunit ENCODES a protein that exhibits protein heterodimerization activity (ortholog); INVOLVED IN bile acid and bile salt transport (ortholog); positive regulation of protein exit from endoplasmic reticulum (ortholog); positive regulation of protein glycosylation (ortholog); FOUND IN plasma membrane; integral component of membrane (ortholog); protein complex (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; (R)-pantothenic acid; 17beta-estradiol 15 15 15 q22.31 42215879 42223900 + 65337708 65345734 + 65045370 65053396 + 6480464 12477932;12719432;15563450;16251721;16269519;16317684;16423920;17332473;18469300;18847488;20538072;20649839;21691099;22535958;24264050;8889549 123264 Q86UW2 AA156136;AA621440;ABBA01038861;AC013553;AI793107;AK129601;AMYH02030619;AY194242;BC103842;BC103843;BC103844;CH471082;NM_178859;XM_005254159 AAI03843;AAI03844;AAI03845;AAP23992;EAW77708;NP_849190;Q86UW2;XP_005254216 Hs.27018;Hs.534533 1338405;1669825;1680058;1851183;2146383 D15S1507;D15S619E;D15S953;RH48386;RH98169 FLJ26090;MGC118959;MGC118960;MGC118961;OSTB;OSTBETA OST-beta;OTTHUMP00000164149;organic solute transporter beta subunit;organic solute transporter subunit beta;solute carrier family 51 subunit beta APPROVED protein-coding ENSG00000186198 HGNC:29956 17811 612085 VALIDATED 731047 SLC4A5 solute carrier family 4 (sodium bicarbonate cotransporter), member 5 This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 p13 74274548 74401724 - 74441997 74570534 - 74216242 74343407 - 1580863;6480464;6907045;7240710;8554872 10978526;11087115;11562789;11788353;12063394;12388414;12477932;16365189;19384345;19487301;22610502;22764636;22987918;23726511 57835 C9JNL6;C9JU12;C9JW32;E7EQT3;E7ETM3;Q9BY07 AB209752;ABBA01075599;ABBA01075600;AC006030;AC073263;AC103915;AF243499;AF293337;AF293338;AF452248;AF453528;AMYH02004090;BC109221;CH471053;DB455137;NG_032663;NM_021196;NM_133478 AAF03523;AAI09222;AAK26741;AAK97072;AAK97073;AAL48291;AAL50802;AAX93062;AAY14938;BAD92989;EAW99688;EAW99689;EAW99690;EAW99691;EAW99692;EAW99693;NP_067019;NP_597812;Q9BY07 Hs.594099 1667882;1696340;1723577;1724015;2123303;5022578 AFM326wg9;D1S1423;RH118960;RH123242;SHGC-77769;WI-17080 MGC129662;NBC4;NBCe2 OTTHUMP00000115292;OTTHUMP00000115293;OTTHUMP00000115294;OTTHUMP00000200878;OTTHUMP00000200879;electrogenic sodium bicarbonate cotransporter 4;solute carrier family 4 member 5;solute carrier family 4, sodium bicarbonate cotransporter, member 5 APPROVED protein-coding ENSG00000188687 HGNC:18168 08420 604278;606757 REVIEWED 1346677 SLC52A1 solute carrier family 52 (riboflavin transporter), member 1 Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013] 17 17 17 p13.2 4950713 4953543 - 4935711 4955304 - 5032416 5052009 - 737633;1580863;6480464 12477932 12044878;12740431;14702039;15489334;16344560;18632736;21089064;22702469;23413253;23506902;24139842 55065 F5H5Y1;Q9NWF4 AB083624;AB362533;AB362534;ABBA01054790;AC012146;AK000922;AK023570;AK123566;AMYH02032838;AY070775;BC060810;BC092473;BU752646;CH471108;DA383729;NG_033117;NM_001104577;NM_017986;XM_005256709 AAH60810;AAH92473;AAL59883;ACE86763;ADZ15644;BAA91427;BAB89337;BAG53914;BAG71128;BAG71129;EAW90363;EAW90364;EAW90365;NP_001098047;NP_060456;Q9NWF4;XP_005256766 Hs.632247 1792784;5015861;5016478;7185938 D10S16;GDB:434012;PMC164520P2 FLJ10060;GPCR;GPCR42;GPR172B;PAR2;RBFVD;RFT1;RFVT1;hRFT1 G protein-coupled receptor 172B;G-protein coupled receptor GPCR42;OTTHUMP00000125300;PERV-A receptor 2;porcine endogenous retrovirus A receptor 2;riboflavin transporter 1;solute carrier family 52, riboflavin transporter, member 1 APPROVED protein-coding ENSG00000132517 HGNC:30225 07432 607883;615026 REVIEWED 1346907 SLC4A8 solute carrier family 4, sodium bicarbonate cotransporter, member 8 The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 12 12 12 q13.13 50620062 50705110 + 51785101 51909547 + 51391317 51515763 + 1580863;6480464;8554872 10362779;11133997;12027220;12121896;12403779;12444018;12477932;14702039;14736710;16344560;18577713;21139048;21906983;23535033;9872452 9498 Q2Y0W8 AB018282;ABBA01031611;ABBA01031612;ABBA01031613;AC025097;AC046135;AC107031;AF069512;AF107099;AI377345;AK056222;AK093005;AK093357;AK124576;AK128321;AK295315;AK299545;AK310017;AL137310;AL831915;AMYH02026485;AMYH02026486;AMYH02026487;AW118662;BC025994;CH471111;DA521806;DB220099;DQ063579;DQ975204;DQ996398;DQ996537;EU637925;KF455651;KF455653;NG_032675;NM_001039960;NM_001258401;NM_001258402;NM_001258403;NM_001267615;NR_047672;XM_006719700;XM_006719701 AAC82380;AAD52981;AAH25994;AAY79176;ABJ09587;ABJ91576;ABJ91577;BAA34459;BAG58292;BAG61491;CAD38576;EAW58191;EAW58192;EAW58193;NP_001035049;NP_001245330;NP_001245331;NP_001245332;NP_001254544;Q2Y0W8;XP_006719763;XP_006719764 Hs.4749 1336007;1722919;1747729;1788458;2147205;5015619;5016596;5021872;5022200;5022578;5022588;5023327;5037552 D11S3114;D12S1633;D1S1423;D5S1597E;D8S2279;G60556;G64245;GDB:631802;L18023;L18426;WI-11123;fk57e05.x1;sY3084 DKFZp761B2318;FLJ46462;NBC3;NDCBE;k-NBC3 Na+-driven Cl-HCO3 exchanger;OTTHUMP00000241291;OTTHUMP00000241292;OTTHUMP00000241293;OTTHUMP00000241295;SLC4A8 {ECO:0000312|EMBL:AAY79176.1, ECO:0000312|HGNC:HGNC:11034};electroneutral Na(+)-driven Cl-HCO3 exchanger;electroneutral sodium bicarbonate exchanger 1;solute carrier family 4 member 8 APPROVED protein-coding ENSG00000050438 HGNC:11034 05430 605024 REVIEWED 1316058 SLC4A1AP solute carrier family 4 (anion exchanger), member 1, adaptor protein FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH atrazine; bis(2-chloroethyl) sulfide; cyclosporin A 2 2 2 p23.3 27731809 27763317 + 27886338 27917847 + 27663471 27694980 + 1580863;6480464 11329013;11772400;11934690;12477932;12800979;14702039;15252450;15302935;15489334;15764369;15815621;17081983;17553790;18029348;19471022;20628050;21139048;21693764;21832049;21906983;22113938;22159054;22379092;22747683;22939629;23602568;24337577;24550385;24816145;8570611;9422766 22950 H7C256;Q9BWU0 ABBA01045214;ABBA01045215;AC074091;AK001486;AK098323;AK300958;AMYH02003480;AMYH02003481;AY028435;AY117688;BC098302;BC098358;BC099711;BC099739;BG220419;CH471053;DQ786283;NM_018158;U38432 AAH98302;AAH98358;AAH99711;AAH99739;AAK29177;AAN12269;AAX93203;BAA91718;BAG62586;EAX00554;EAX00555;NP_060628;Q9BWU0 Hs.306000 1337690;1768003;2110747;5014023;5015959;5016781;5020635;5022578;5022651 D10S2448;D11S2921;D13S1553;D1S1423;D22S532;D7S3207;SHGC-67307;SLC4A1AP_8003;STS-N26833 FLJ10624;FLJ41004;HLC-3;HLC3;MGC120646;MGC120648 OTTHUMP00000200842;human lung cancer oncogene 3 protein;kanadaptin;kidney anion exchanger adapter protein;kidney anion exchanger adaptor protein;lung cancer oncogene 3;solute carrier family 4 (anion exchanger), member 1, adapter protein;solute carrier family 4 anion exchanger member 1 adapter protein protein-coding ENSG00000163798 HGNC:13813 04038 602655 VALIDATED 1349767 SLC52A2 solute carrier family 52 (riboflavin transporter), member 2 This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012] 8 8 8 q24.3 141757606 141760327 + 145582217 145584946 + 144358557 144361286 + 737633;1580863;6480464;8699517;8554872;7240710 12477932 12044878;12740431;14702039;15146197;15489334;16344560;20463145;23506902;24139842;24253200;24561123;24816145 79581 E9PIX2;E9PJC1;E9PKE4;E9PPS0;E9PRC3;Q9HAB3 AB083623;AB522904;ABBA01005210;AC233992;AF205589;AK021918;AK027888;AK291581;AK303822;AL560856;AMYH02019003;AX301148;AX878806;AX881043;AY070774;BC002917;BQ772207;BQ888729;BU603018;CA306391;CH471162;CN260061;DA289629;DC365525;NG_032872;NM_001253815;NM_001253816;NM_024531;NR_045600;XM_006716658;XM_006716659;XM_006716660 AAH02917;AAL59882;BAB13936;BAB55433;BAB89336;BAF84270;BAG64770;BAK79010;CAD13054;CAE90264;CAE91181;EAW82115;EAW82116;NP_001240744;NP_001240745;NP_078807;Q9HAB3;XP_006716721;XP_006716722;XP_006716723 Hs.6459;Hs.731710 1792782 PMC164520P1 BVVLS2;D15Ertd747e;GPCR;GPCR41;GPR172A;PAR1;RFT3;RFVT2;hRFT3 G protein-coupled receptor 172A;OTTHUMP00000228740;OTTHUMP00000228741;OTTHUMP00000228743;OTTHUMP00000228745;OTTHUMP00000228746;PERV-A receptor 1;porcine endogenous retrovirus A receptor 1;putative G-protein coupled receptor GPCR41;riboflavin transporter 3;solute carrier family 52, riboflavin transporter, member 2 APPROVED protein-coding ENSG00000185803 HGNC:30224 07431 607882;614707 REVIEWED 68964 SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 4 4 4 q21 69409858 69794385 + 72053003 72437804 + 71092756 71572087 + 61794;1600028;1600034;6480464;6907045;7240710;8554872;8699517 10545938;12944321;15340004 10069984;10099707;10600945;10652014;11743927;11744745;12411514;12477932;12534288;12730338;12907161;14559244;14567693;14702039;15123668;15218065;15273250;15329059;15366422;15471865;15489334;15563508;15713912;15817634;15930088;16159892;16344560;16622177;16687407;16707554;16857349;17182531;17661077;17881426;18223262;18441326;18614622;19056867;19102757;19158093;19294449;19336397;19662435;19913121;20197274;20628086;20837482;20936779;21224233;21228764;21234596;21317537;21621518;21976511;22012331;22383045;22415075;22479346;23166209;23303189;23324180;23362273;23636456;23917030;24121512;24315451;24453308;8358434;9235899;9651366 8671 A5JJ20;Q9Y6R1 AA349118;AB470072;ABBA01022964;ABBA01022965;ABBA01022966;ABBA01022967;ABBA01022968;AC019089;AC079230;AC093851;AC096713;AC110783;AC112226;AF004813;AF007216;AF011390;AF053753;AF053754;AF069510;AF157492;AF310248;AK090968;AK226164;AK307594;AK308038;AMYH02009438;AMYH02009439;AMYH02009440;AMYH02009441;AMYH02009442;AV724814;AV726720;BC030977;BC127908;BE855478;CH471057;CR749482;DA343084;DA378692;DA635432;EF531618;NG_012653;NM_001098484;NM_001134742;NM_003759;XM_005265704;XM_006714398;XM_006714399 AAC39840;AAC51645;AAD31379;AAD42020;AAF21718;AAF21719;AAF80343;AAG47773;AAH30977;ABQ43327;BAH58226;CAH18310;EAX05639;EAX05640;EAX05641;EAX05642;EAX05643;EAX05644;NP_001091954;NP_001128214;NP_003750;Q9Y6R1;XP_005265761;XP_006714461;XP_006714462 Hs.5462 1335285;1338356;1668193;1696270;1696286;1704736;1712691;1719007;1750797;1753751;1764093;1790205;1793320;2112094;2173346;2180509;2186011;2218012;7185501 AW527043;D4S1509;D4S1543;D4S2931;D4S3319;G16764;G17822;PMC209339P1;RH121043;RH123210;SHGC-100544;SHGC-103649;SHGC-147750;SHGC-53498;SHGC-79648;SHGC-83657;SHGC-83779;SLC4A4_3914 DKFZp781H1314;HNBC1;KNBC;NBC1;NBC2;NBCe1-A;SLC4A5;hhNMC;pNBC Na(+)/HCO3(-) cotransporter;OTTHUMP00000160355;OTTHUMP00000218884;OTTHUMP00000218885;electrogenic sodium bicarbonate cotransporter 1;kNBC1;sodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas);solute carrier family 4 member 4;solute carrier family 4, sodium bicarbonate cotransporter, member 4, brain type;solute carrier family 4, sodium bicarbonate cotransporter, member 5 APPROVED protein-coding ENSG00000080493 HGNC:11030 04516 603345;604278 REVIEWED 1312203 SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012] 20 20 20 p13 835489 844006 - 740724 756628 - 760080 776015 - 6480464;7240710;8554872;8699517 11780052;12477932;14702039;15489334;16303743;16344560;17207965;19122205;20206331;20724488;20729853;21512156;22273710;22471455;22533825;22718020;22791947;23275236;23413253;23506902;24139842;24260322;24264046 113278 K0A6P4;Q9NQ40 ABBA01053758;AI244952;AK074650;AK291706;AL118502;AMYH02036561;AX213163;BC009750;CH471133;DA302552;DA358731;HH961814;JX478249;KF511325;NG_027687;NM_033409;XM_005260655;XM_006723538 AAH09750;ADQ32763;AFS68799;BAC11113;BAF84395;CAC69312;CBX51380;EAX10657;EAX10658;EAX10659;NP_212134;Q9NQ40;XP_005260712;XP_006723601 Hs.283865 1675616;1697296 RH102145;RH80917 BVVLS;BVVLS1;C20orf54;MGC10698;RFT2;RFVT3;bA371L19.1;hRFT2 OTTHUMP00000029939;OTTHUMP00000029940;hypothetical protein LOC113278;riboflavin transporter 2;solute carrier family 52 member 3;solute carrier family 52, riboflavin transporter, member 3 APPROVED protein-coding ENSG00000101276 HGNC:16187 09843 211500;211530;613350 REVIEWED 1345162 SLC5A12 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008] 11 11 11 p14.2 26833841 26888871 - 26688566 26743574 - 26667019 26722047 - 737633;1580863;6480464;8554872 12477932 15146197;17692818;19056867 159963 E9PLZ7;G3V1E3;Q1EHB4 ABBA01060979;ABBA01060980;AC083755;AL049270;AMYH02024497;AW614338;AY299482;BC029048;BC041454;BC049207;BM924715;CH471064;CN370367;CR747563;NM_178498;XM_006718155;XM_006718156;XM_006718157 AAH41454;AAH49207;AAQ73572;EAW68293;EAW68294;EAW68295;NP_848593;Q1EHB4;XP_006718218;XP_006718219;XP_006718220 Hs.148907 DKFZp564G223;MGC52019;SMCT2 OTTHUMP00000198294;electroneutral sodium monocarboxylate cotransporter;low-affinity sodium-lactate cotransporter;sodium-coupled monocarboxylate transporter 2;sodium-iodide related cotransporter;solute carrier family 5 (sodium/glucose cotransporter), member 12;solute carrier family 5 member 12 APPROVED protein-coding ENSG00000148942 HGNC:28750 15395 612455 VALIDATED 1313138 SLC5A10 solute carrier family 5 (sodium/sugar cotransporter), member 10 This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 17 17 17 p11.2 20769838 20834185 + 18853989 18924004 + 18950676 19020691 + 1580863;6480464;8554872 12477932;12748858;15342556;19056867;19237446;19913121;20628086;22127746;22212718;24573086 125206 A0PJK1 AA745934;ABBA01013329;ABBA01013330;AC003957;AC090286;AK057946;AK298345;AMYH02033131;AMYH02033132;AMYH02033133;AX191622;BC034380;BC039868;BC062617;BC112347;BP332461;CH471276;DR003789;NM_001042450;NM_001270648;NM_001270649;NM_001282417;NM_152351;XM_005256457;XM_006721450;XM_006721451 A0PJK1;AAH34380;AAH39868;AAH62617;ADZ15561;BAB71619;BAG60592;CAC51188;EAW50439;EAW50440;EAW50441;NP_001035915;NP_001257577;NP_001257578;NP_001269346;NP_689564;XP_005256514;XP_006721513;XP_006721514 Hs.462418 1670119;1729448;1729861;2110439;7184643 D17S29;D17S737;GRAP_9174;WI-14642 FLJ25217;SGLT-5;SGLT5 Na(+)/glucose cotransporter 5;OTTHUMP00000065729;OTTHUMP00000065730;OTTHUMP00000065731;OTTHUMP00000065732;sodium/glucose cotransporter 5;solute carrier family 5 (sodium/glucose cotransporter), member 10;solute carrier family 5 member 10 APPROVED protein-coding ENSG00000154025 HGNC:23155 15394 REVIEWED 1347645 SLC5A11 solute carrier family 5 (sodium/inositol cotransporter), member 11 Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008] 16 16 16 p12.1 23635365 23703959 + 24857184 24922949 + 24845863 24911628 + 1580863;6480464 12039040;12133831;12477932;18069935;20379614;20800603;24324551 115584 B7Z8N3;H3BN85;I3L1G0;Q8WWX8 AA772233;ABBA01017101;ABBA01017102;ABBA01017103;ABBA01017104;ABBA01017105;AC008731;AF292385;AJ305237;AK125267;AK295427;AK298373;AK303691;AMYH02031727;AMYH02031728;AMYH02031729;AMYH02031730;AY044906;BC049385;BC057780;CH471145;DC332171;KC877600;NM_001258411;NM_001258412;NM_001258413;NM_001258414;NM_052944;U41898;XM_005255080;XM_005255081;XM_005255082;XM_005255083;XM_006721014;XM_006721015 AAB61733;AAH49385;AAH57780;AAK97053;AAK97784;BAC86105;BAH12065;BAH12770;BAH14019;CAC83728;EAW55781;NP_001245340;NP_001245341;NP_001245342;NP_001245343;NP_443176;Q8WWX8;XP_005255137;XP_005255138;XP_005255139;XP_005255140;XP_006721077;XP_006721078 Hs.164118 1731433;1750035 D16S319;SHGC-111723 KST1;RKST1;SGLT6;SMIT2 Na(+)/myo-inositol cotransporter 2;OTTHUMP00000122494;homolog of rabbit KST1;na+/myo-inositol cotransporter 2;putative sodium-coupled cotransporter RKST1;sodium-dependent glucose cotransporter;sodium/glucose cotransporter KST1;sodium/myo-inositol cotransporter 2;sodium/myo-inositol transporter 2;solute carrier family 5 (sodium/glucose cotransporter), member 11;solute carrier family 5 member 11 APPROVED protein-coding ENSG00000158865 HGNC:23091 610238 VALIDATED 734339 SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 ENCODES a protein that exhibits myo-inositol:sodium symporter activity (inferred); INVOLVED IN inositol metabolic process (inferred); myo-inositol transport (inferred); peripheral nervous system development (inferred); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; amiodarone; benzo[a]pyrene diol epoxide I 21 21 21 q22.12 20645433 20678122 + 35445503 35515334 + 34073570 34106262 + 1580863;6480464 10830953;1372904;14702039;15342556;16344560;17178845;19032932;19198609;19738201;20738937;20971364;21139048;21565611;21906983;21963094;22053931;23207989;7789985;8646889;9441750;9612208;9685419 6526 P53794 AB074183;ABBA01057365;AF027153;AK024896;AK026169;AK055913;AK092248;AL833562;AMYH02037752;AP000315;AP000467;AX750578;BP290336;DA723865;DB080492;KF457228;KF457229;KF457230;KF495843;KF511405;L38500;NM_006933;X83558 AAC39548;AAC41747;AAI40350;AAI46537;CAD99141;NP_008864;P53794 Hs.302742 1701002;1770008;1857881;2110873;2116545;2116547;2118353;2130978;2149205;2218812 A005K42;Cda0ae11;D21S363E;G20293;RH104128;RH35989;RH78031;SHGC-87543;SHGC-87556;SLC5A3_3862 BCW2;SMIT;SMIT1;SMIT2 Na(+)/myo-inositol cotransporter;OTTHUMP00000068543;human solute carrier family 5, member 3, Sodium/myo-inositol cotransporter;sodium/myo-inositol cotransporter;sodium/myo-inositol cotransporter 1;sodium/myo-inositol transporter 1;solute carrier family 5 (inositol transporter), member 3;solute carrier family 5 (inositol transporters), member 3;solute carrier family 5 member 3 protein-coding ENSG00000198743 HGNC:11038 02708 600444 VALIDATED 7207688 SLC5A4P1 solute carrier family 5 (glucose activated ion channel), member 4 pseudogene 1 11 11 11 121303866 121304474 + 124143866 124144474 + 124273970 124274578 + 100422550 ABBA01031261;AMYH02025719;AP002965;NG_024564 APPROVED pseudo ENSG00000255116 HGNC:45041 INFERRED 1348839 SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7 Choline is a direct precursor of acetylcholine (ACh), a neurotransmitter of the central and peripheral nervous system that regulates a variety of autonomic, cognitive, and motor functions. SLC5A7 is a Na(+)- and Cl(-)- dependent high-affinity transporter that mediates the uptake of choline for acetylcholine synthesis in cholinergic neurons (Apparsundaram et al., 2000 [PubMed 11027560]).[supplied by OMIM, Mar 2008] 2 2 2 q12 102911066 102938509 + 108602979 108630663 + 107986539 108013983 + 1580863;6480464;8549504;7240710;8699517;8554872 23677775 11027560;11068039;12237312;12406342;12477932;12628461;12969261;14623932;15090548;15450352;15489334;15784779;15815621;16876130;17005849;20379614;20490865;21163949;21337021;22361880;22483271;22483273;23132865;23141292;23392663 60482 Q9GZV3 AB043997;AB084377;ABBA01000751;ABBA01000752;AC009963;AF276871;AJ308378;AJ401466;AK300801;AK315280;AMYH02004504;AMYH02004505;BC111524;BC111525;CH471182;NM_021815 AAG25940;AAI11525;AAI11526;AAY14927;BAB18161;BAG37689;BAG62459;CAC03717;CAC88115;EAW53893;NP_068587;Q9GZV3 Hs.287758 1339319;2108505 D2S274;SLC5A7_8079 CHT;CHT1;HMN7A;MGC126299;MGC126300;hCHT OTTHUMP00000161574;OTTHUMP00000203760;hemicholinium-3-sensitive choline transporter;high affinity choline transporter;high affinity choline transporter 1;solute carrier family 5 (choline transporter), member 7;solute carrier family 5 member 7 APPROVED protein-coding ENSG00000115665 HGNC:14025 12294 158580;608761 PROVISIONAL 1352176 SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008] 12 12 12 q23.1 101215310 101269325 - 101549994 101604016 - 101156216 101210238 - 6480464;8554872 12107270;12477932;12829793;14966140;15001644;15322102;15867356;16375929;16670197;16858683;16873376;17245649;17526579;17692818;18037591;18437076;18559491;18566324;18661192;19056867;19730683;19864324;20029986;20082847;20211600;20403997;20671196;20965718;21687703;21802122;22450368;23167260;23273563;23918800 160728 Q8N695 ABBA01053246;AC079953;AC225709;AF536216;AF536217;AK075263;AK313788;AMYH02027066;AMYH02027067;AMYH02027068;AY081220;BC110492;CH471054;NM_145913 AAI10493;AAL88746;AAP46193;AAP46194;BAG36525;EAW97648;EAW97649;EAW97650;EAW97651;NP_666018;Q8N695 Hs.444536 1752125 SHGC-106056 AIT;MGC125354;SMCT;SMCT1 OTTHUMP00000243936;apical iodide transporter;electrogenic sodium monocarboxylate cotransporter;sodium iodide-related cotransporter;sodium-coupled monocarboxylate transporter 1;solute carrier family 5 (iodide transporter), member 8;solute carrier family 5 member 8 APPROVED protein-coding HGNC:19119 10475 608044 VALIDATED 1322816 SLC5A9 solute carrier family 5 (sodium/sugar cotransporter), member 9 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN sodium ion transport (inferred); transmembrane transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 1 1 1 p33 46975128 47001092 + 48688339 48714316 + 48222685 48248644 + 6480464;8554872 12477932;15607332;19056867;20800603 200010 B4DJL5;E9PJ08;F8WD86;H0Y5P9;H0YC92;Q2M3M2 ABBA01050804;AI767388;AK131200;AK296133;AK311580;AL109659;AMYH02000980;AMYH02000981;BC025411;BC032417;BC048332;BC104857;BC104863;BC143570;BC143572;BC143587;BX648549;CH471059;NM_001011547;NM_001135181 AAI04858;AAI04864;AAI43571;AAI43573;BAG54749;BAG58877;EAX06857;EAX06858;EAX06859;NP_001011547;NP_001128653;Q2M3M2 Hs.37890 1672834;1675680 D1S1696;RH93027 MGC132517;MGC132523;SGLT4;hSGLT4 Na(+)/glucose cotransporter 4;OTTHUMP00000009658;OTTHUMP00000211038;OTTHUMP00000229424;sodium/glucose cotransporter 4;solute carrier family 5 (sodium/glucose cotransporter), member 9;solute carrier family 5 member 9 APPROVED protein-coding ENSG00000117834 HGNC:22146 18060 VALIDATED 1315814 SLC5A4 solute carrier family 5 (glucose activated ion channel), member 4 ENCODES a protein that exhibits symporter activity (inferred); INVOLVED IN carbohydrate transport (inferred); sodium ion transport (inferred); transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; 17alpha-ethynylestradiol (ortholog); 2,2',5,5'-tetrachlorobiphenyl (ortholog) 22 22 22 q12.3 16416726 16453537 - 32614463 32651318 - 32218476 32352898 - 1580863;6480464 10591208;12354616;13130073;16319503;17110502;17705872;18198291;20421923;20932310;22766068;9501190 6527 Q9NY91 ABBA01055369;AJ133127;AL008723;AL021937;AMYH02038264;AMYH02038265;CH471095;GQ292716;JQ340171;JQ519903;NM_014227;U41897;XM_006724308 AAB61732;AAI46452;AAI53070;ACT67432;AEZ53225;AEZ53226;CAB81772;EAW60017;EAW60018;NP_055042;Q9NY91;XP_006724371 Hs.130101 1666674;1714051;1799794;1799906;1800146;1800602;1809616;1813000;1815316;1817214;1820706;1822442;1822784;1822964;1823322;1823804;1824172;1824944;1825580;1827128;1827654;1828860;1829608;1830788;1831548;1831680;1832158;1832904;1833668;1834444;1834726;1838676;1841316;1841750;1842268;1842968;1844578;1845648;2012180;2012182;2012184;2012186;2012188;2012190;2012192;2012194;2012196;2012198;2012200;2012202;2012204;2012206;2012208;2012210;2012212;2012214;2012216;2012218;2012220;2012222;2012224;2012226;2012228;2012230;2012232;2012234;2012236;2012238;2012240;2012242;2012244;2012246;2012248;2012250;2012252;2012254;2012256;2012258;2012260;2012262;2012264;2012266;2012268;2012270;2012272;2012274;2012276;2012278;2012280;2012282;2012284;2012286;2012288;2012290;2012292;2012294;2012296;2012298;2012300;2012302;2012304;2012306;2012308;2012310;2012312;2012314;2012316;2012318;2012320;2012322;2012324;2012326;2012328;2012330;2012332;2012334;2012336;2012338;2012340;2012342;2012344;2012346;2012348;2012350;2012352;2012354;2012356;2012358;2012360;2012362;2012364;2012366;2012368;2012370;2012372;2012374;2012376;2012378;2012380;2012382;2012384;2012386;2012388;2012390;2012392;2012394;2012396;2012398;2012400;2012402;2012404;2012406;2012408;2012410;2012412;2012414;2012416;2012418;2012420;2012422;2012424;2012426;2012428;2012430;2012432;2012434;2012436;2012438;2012440;2012442;2012444;2012446;2012448;2012450;2012452;2012454;2012456;2012458;2012460;2012462;2012464;2012466;2012468;2012470;2012472;2012474;2012476;2012478;2012480;2012482;2012484;2012486;2012488;2012490;2012492;2012494;2012496;2012498;2012500;2012502;2012504;2012506;2012508;2098454;2098456;2098458;2098460;2098462;2098464;2098466;2098468;2098470;2098472;2098474;2098476;2098478;2098480;2098482;2098484;2098486;2098488;2098490;2098492;2098494;2098496;2098498;2098500;2098502;2098504;2098506;2098508;2098510;2098512;2098514 ECD00751;ECD00807;ECD00929;ECD01162;ECD05800;ECD07514;ECD08694;ECD09657;ECD11428;ECD12309;ECD12480;ECD12570;ECD12750;ECD12994;ECD13182;ECD13571;ECD13898;ECD14679;ECD14947;ECD15557;ECD15935;ECD16530;ECD16911;ECD16977;ECD17217;ECD17593;ECD17979;ECD18370;ECD18511;ECD20512;ECD21854;ECD22074;ECD22337;ECD22692;ECD23503;ECD24042;REN77019;REN77020;REN77021;REN77022;REN77023;REN77024;REN77025;REN77026;REN77027;REN77028;REN77029;REN77030;REN77031;REN77032;REN77033;REN77034;REN77035;REN77036;REN77037;REN77038;REN77039;REN77040;REN77041;REN77042;REN77043;REN77044;REN77045;REN77046;REN77047;REN77048;REN77049;REN77050;REN77051;REN77052;REN77053;REN77054;REN77055;REN77056;REN77057;REN77058;REN77059;REN77060;REN77061;REN77062;REN77063;REN77064;REN77065;REN77066;REN77067;REN77068;REN77069;REN77070;REN77071;REN77072;REN77073;REN77074;REN77075;REN77076;REN77077;REN77078;REN77079;REN77080;REN77081;REN77082;REN77083;REN77084;REN77085;REN77086;REN77087;REN77088;REN77089;REN77090;REN77091;REN77092;REN77093;REN77094;REN77095;REN77096;REN77097;REN77098;REN77099;REN77100;REN77101;REN77102;REN77103;REN77104;REN77105;REN77106;REN77107;REN77108;REN77109;REN77110;REN77111;REN77112;REN77113;REN77114;REN77115;REN77116;REN77117;REN77118;REN77119;REN77120;REN77121;REN77122;REN77123;REN77124;REN77125;REN77126;REN77127;REN77128;REN77129;REN77130;REN77131;REN77132;REN77133;REN77134;REN77135;REN77136;REN77137;REN77138;REN77139;REN77140;REN77141;REN77142;REN77143;REN77144;REN77145;REN77146;REN77147;REN77148;REN77149;REN77150;REN77151;REN77152;REN77153;REN77154;REN77155;REN77156;REN77157;REN77158;REN77159;REN77160;REN77161;REN77162;REN77163;REN77164;REN77165;REN77166;REN77167;REN77168;REN77169;REN77170;REN77171;REN77172;REN77173;REN77174;REN77175;REN77176;REN77177;REN77178;REN77179;REN77180;REN77181;REN77182;REN77183;RH119457;SGC33122;stSG602616;stSG602617;stSG602618;stSG602619;stSG602620;stSG602621;stSG602622;stSG602623;stSG602624;stSG602625;stSG602626;stSG602627;stSG602628;stSG602629;stSG602630;stSG602631;stSG602632;stSG602633;stSG602634;stSG602635;stSG602636;stSG602637;stSG602638;stSG602639;stSG602640;stSG602641;stSG602642;stSG602643;stSG602644;stSG602645;stSG602646 DJ90G24.4;SAAT1;SGLT3 Na(+)/glucose cotransporter 3;OTTHUMP00000195961;low affinity sodium glucose cotransporter;low affinity sodium-glucose cotransporter;sodium transporter;sodium/glucose cotransporter 3;solute carrier family 5 (low affinity glucose cotransporter), member 4;solute carrier family 5 (neutral amino acid transporters, system A), member 4;solute carrier family 5 member 4 APPROVED protein-coding ENSG00000100191 HGNC:11039 10238 VALIDATED 731751 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009] 19 19 19 p13.11 17884497 17907699 + 17982641 18005983 + 17871832 17895174 + 1624273;1580863;6480464;7240710;8554872;8699517 9171822 10487695;10893432;11170832;11231356;11575851;12021185;12039073;12161518;12351692;12475396;12477932;12588808;12602914;12679487;12720543;1410443;14630715;15009910;15057824;15062578;15062579;15068624;15123239;15215159;15340050;15472226;15489334;15522214;15562032;15919754;15961562;15968416;15976004;16264365;16335670;16391203;16954431;16982034;16990649;17164311;17214887;17297475;17408651;17696829;17726079;17854396;17938324;18077370;18187871;18202121;18339708;18500672;18509003;18628528;18708479;19029227;19124451;19196800;19199708;19241193;19618116;19706688;19916865;20153805;20213084;20479570;20620544;20797386;20961282;21092238;21209020;21428212;21521301;21587211;21702220;21988488;21989446;22157753;2249482;22510021;22545753;22781452;22954554;22962269;22982218;23117572;23134812;23163107;23174149;23255420;23342072;23404856;23441638;23650190;23678037;23690546;23857380;23988430;24052075;24432988;24708099;3451231;3998954;8806637;9231811;9329364;9388506;9398697;9486973;9492156;9657379;9709973;9745458;9814502 6528 Q92911;Q9UEU3 ABBA01051233;ABBA01051234;ABBA01051235;AC005796;AF059566;AF260700;AMYH02035714;BC105047;BC105049;BX648217;CH471106;D87920;NG_012930;NM_000453;U66088;XM_005260024 AAB17378;AAC14697;AAC62827;AAF70339;AAI05048;AAI05050;BAA24835;EAW84643;NP_000444;Q92911;XP_005260081 Hs.584804 2144113;5015861;5022425;5022576;5037552;5109281;7185938 D10S16;D1S1361;D1S1425;D22S296;D8S2279;STS-U66088 NIS;TDH1 Na(+)/I(-) cotransporter;Na(+)/I(-) symporter;Na(+)/I(-)-symporter;sodium/iodide cotransporter;solute carrier family 5 (sodium iodide symporter), member 5;solute carrier family 5 member 5;solute carrier family 5, member 5 APPROVED protein-coding ENSG00000105641 HGNC:11040 03504 274400;601843 REVIEWED 69654 SLC5A6 solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 ENCODES a protein that exhibits sodium-dependent multivitamin transmembrane transporter activity (inferred); INVOLVED IN biotin metabolic process (inferred); biotin transport (inferred); pantothenate metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN brush border membrane (inferred); integral component of membrane (inferred); integral component of plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; (R)-lipoic acid; (R)-pantothenic acid 2 2 2 p23 27268776 27281501 - 27422455 27435175 - 27199587 27212307 - 68917;1580863;6480464;8554872 9516450 10329687;10334869;11834205;11955628;12477932;12646417;14702039;15123239;15561972;16303743;16344560;16749865;16751776;16959947;17135299;17904341;19211916;19898482;20962270;20980265;21139048;21183659;21570947;21890473;21906983;21963094;21988832;22015582;22304562;22732670;22927035;23000965;23142496 8884 E7EMX0;E7ENG0;E7ENN0;E7EP02;E7ERE1;E7EW41;E7EW78;E7EXC0;Q9HD19;Q9Y289 ABBA01045198;ABBA01045199;AC013403;AF069307;AF081571;AF116241;AF288781;AF442149;AF442150;AK027855;AK075078;AK293162;AK314545;AL096737;AMYH02003472;AMYH02003473;BC012806;BC015631;BG025980;BI832199;BQ651664;CH471053;DA958474;DB452476;N30242;NM_021095;NR_028323;XM_006712128;XM_006712129;XM_006712130;XM_006712131 AAD31727;AAD37481;AAD37502;AAG00587;AAH12806;AAH15631;AAL84706;AAL84707;AAX93172;ABW03592;BAC11387;BAG37132;BAG51384;BAG56706;CAH56408;EAX00620;EAX00621;EAX00622;EAX00623;NP_066918;Q9Y289;XP_006712191;XP_006712192;XP_006712193;XP_006712194 Hs.435735 1698840;1721363;1725669;1792882;1847850;2129857;2147794;2147796;2149313 A001U43;G19673;G59682;G62043;PMC166200P4;RH102984;RH45117;RH45418;WI-19577 SMVT Na(+)-dependent multivitamin transporter;Na+-dependent multivitamin transporter;OTTHUMP00000122593;OTTHUMP00000201025;sodium-dependent multivitamin transporter;solute carrier family 5 (sodium-dependent vitamin transporter), member 6;solute carrier family 5 member 6 APPROVED protein-coding ENSG00000138074 HGNC:11041 04934 604024 VALIDATED 731434 SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. [provided by RefSeq, Sep 2009] 16 16 16 p11.2 28806298 28813953 - 31494439 31502091 + 31483118 31490770 + 1599049;1599050;737731;1580863;1626159;1625539;6480464;7240710;8554872;8699517 12436245;14506074;14614622;15449578;15466941 12477932;1415574;14569097;14702039;15610225;17505558;18622023;19056867;20965718;20980548;21048164;21165652;21410690;21830867;22079028;22314875;22528597;22673616;23508966;23651029;23714218;8244402 6524 H3BP44;P31639;Q8WY15 ABBA01042096;AC026471;AF307340;AI222550;AK054830;AMYH02031852;BC131542;CH471192;M95549;NG_012892;NM_003041;XM_006721072;XM_006721073;XR_243297 AAA36608;AAI31543;AAL66409;EAW52123;EAW52124;EAW52125;NP_003032;P31639;XP_006721135;XP_006721136 Hs.709195 1679167;1683633;1693740;1849376 RH69206;RH98795;SHGC-58809;SHGC-61098 SGLT2 Na(+)/glucose cotransporter 2;OTTHUMP00000163298;low affinity na-dependent glucose transporter (sglt2);low affinity sodium-glucose cotransporter;sodium/glucose cotransporter 2;solute carrier family 5 (sodium/glucose transporter), member 2;solute carrier family 5 member 2 APPROVED protein-coding ENSG00000140675 HGNC:11037 08919 182381;233100 REVIEWED 732146 SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1 This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 22 22 22 q12.3 16239500 16309474 + 32439019 32509016 + 32043032 32113029 + 1624257;1580863;1626159;1625539;6480464;6907045;7240710;8554872;8699517 15449578;15466941;2008213 10036327;10591208;11131365;11406349;12082088;12139397;12477932;12488461;12543931;12773314;12885248;14724758;15090548;15166308;15461802;15476411;15596535;15885653;15904891;16260652;16300400;16322051;16327313;16344560;16446504;16788146;16860318;17130520;17153597;17222499;17495124;17505558;17567994;17686765;17903058;17983207;18455122;18471079;18481997;18713983;18853313;19056867;19115253;19509029;20334581;20338844;20379614;20424473;20486940;20564476;20800603;20965718;20980548;21048164;21080109;21156162;21190656;21406183;22004742;22159082;22159627;23008432;23010278;23116249;23418532;23531874;23874689;23910014;24048166;24191006;24236070;2490366;7759499;7823022;8195156;8244393;8563765;8567640;8889548 6523 P13866 ABBA01055362;ABBA01055363;ABBA01055364;AI078794;AK297665;AK312948;AK316184;AL022321;AMYH02038260;AMYH02038261;AMYH02038262;AMYH02038263;BC139839;BM980416;CH471095;CR456579;DA429018;DA562836;DQ656053;L29339;M24847;NG_017045;NM_000343;NM_001256314;Z74021;Z80998;Z83839;Z83849 AAA60320;AAB59448;AAI39839;AAI39840;AAI41436;AAI46581;BAG35789;BAH12645;BAH14555;CAG30465;CAK54607;CAK54906;EAW60006;NP_000334;NP_001243243;P13866 Hs.1964 1659567;1663341;1678803;1731329;1742091;1798970;1799852;1803046;1803116;1805930;1806056;1808228;1808648;1809480;1809552;1809766;1811442;1812504;1812996;1812998;1813456;1813594;1814982;1815730;1816282;1817658;1817852;1818788;1819636;1819778;1820590;1821712;1822022;1822514;1822634;1822874;1823112;1823320;1823858;1824780;1826308;1826410;1827570;1828858;1829202;1831632;1831976;1832388;1832662;1833626;1835352;1835984;1837018;1837078;1837864;1837994;1838194;1838418;1839072;1839450;1839582;1839584;1840514;1840946;1842784;1842786;1842900;1843254;1843720;1843804;1844022;1845646;1846566;2010730;2010732;2010734;2010736;2010738;2010740;2010742;2010744;2010746;2010748;2010750;2010752;2010754;2010756;2010758;2010760;2010762;2010764;2010766;2010768;2010770;2010772;2010774;2010776;2010778;2010780;2010782;2010784;2010786;2010788;2010790;2010792;2010794;2010796;2010798;2010800;2010802;2010804;2010806;2010808;2010810;2010812;2010814;2010816;2010818;2010820;2010822;2010824;2010826;2010828;2010830;2010832;2010834;2010836;2010838;2010840;2010842;2010844;2010846;2010848;2010850;2010852;2010854;2010856;2010858;2010860;2010862;2010864;2010866;2010868;2010870;2010872;2010874;2010876;2010878;2010880;2010882;2010884;2010886;2010888;2010890;2010892;2010894;2010896;2010898;2010900;2010902;2010904;2010906;2010908;2010910;2010912;2010914;2010916;2010918;2010920;2010922;2010924;2010926;2010928;2010930;2010932;2010934;2010936;2010938;2010940;2010942;2010944;2010946;2010948;2010950;2010952;2010954;2010956;2010958;2010960;2010962;2010964;2010966;2010968;2010970;2010972;2010974;2010976;2010978;2010980;2010982;2010984;2010986;2010988;2010990;2010992;2010994;2010996;2010998;2011000;2011002;2011004;2011006;2011008;2011010;2011012;2011014;2011016;2011018;2011020;2011022;2011024;2011026;2011028;2011030;2011032;2011034;2011036;2011038;2011040;2011042;2011044;2011046;2011048;2011050;2011052;2011054;2011056;2011058;2011060;2011062;2011064;2011066;2011068;2011070;2011072;2011074;2011076;2011078;2011080;2011082;2011084;2011086;2011088;2011090;2011092;2011094;2011096;2011098;2011100;2011102;2011104;2011106;2011108;2011110;2011112;2011114;2011116;2011118;2011120;2011122;2011124;2011126;2011128;2011130;2011132;2011134;2011136;2011138;2011140;2011142;2011144;2011146;2011148;2011150;2011152;2011154;2011156;2011158;2011160;2011162;2011164;2011166;2011168;2011170;2011172;2011174;2011176;2011178;2011180;2011182;2011184;2011186;2011188;2011190;2011192;2011194;2011196;2011198;2011200;2011202;2011204;2011206;2011208;2011210;2011212;2011214;2011216;2011218;2011220;2011222;2011224;2011226;2011228;2011230;2011232;2011234;2011236;2011238;2011240;2011242;2011244;2011246;2011248;2011250;2011252;2011254;2011256;2011258;2011260;2011262;2011264;2011266;2011268;2011270;2011272;2011274;2011276;2011278;2011280;2011282;2011284;2011286;2011288;2011290;2011292;2011294;2011296;2011298;2011300;2011302;2011304;2011306;2011308;2011310;2011312;2011314;2011316;2011318;2011320;2011322;2011324;2011326;2011328;2011330;2011332;2011334;2011336;2011338;2011340;2011342;2011344;2011346;2011348;2011350;2011352;2011354;2098200;2098202;2098204;2098206;2098208;2098210;2098212;2098214;2098216;2098218;2098220;2098222;2098224;2098226;2098228;2098230;2098232;2098234;2098236;2098238;2098240;2098242;2098244;2098246;2098248;2098250;2098252;2098254;2098256;2098258;2098260;2098262;2098264;2098266;2098268;2098270;2098272;2098274;2098276;2098278;2098280;2098282;2098284;2098286;2098288;2098290;2098292;2098294;2098296;2098298;2098300;2098302;2098304;2098306;2218014;5014802 D22S1033;D22S1542;D22S347;D22S652;ECD00327;ECD00780;ECD02414;ECD02449;ECD03918;ECD03981;ECD05095;ECD05306;ECD05732;ECD05768;ECD05875;ECD06719;ECD07259;ECD07512;ECD07513;ECD07749;ECD07820;ECD08522;ECD08903;ECD09183;ECD09881;ECD09980;ECD10458;ECD10885;ECD10959;ECD11370;ECD11942;ECD12097;ECD12345;ECD12405;ECD12525;ECD12644;ECD12749;ECD13021;ECD13488;ECD14267;ECD14319;ECD14902;ECD15556;ECD15728;ECD16953;ECD17126;ECD17333;ECD17472;ECD17958;ECD18831;ECD19153;ECD19673;ECD19703;ECD20102;ECD20168;ECD20269;ECD20383;ECD20715;ECD20907;ECD20974;ECD20975;ECD21444;ECD21666;ECD22599;ECD22600;ECD22658;ECD22835;ECD23071;ECD23113;ECD23224;ECD24041;GDB:190932;REN76287;REN76288;REN76289;REN76290;REN76291;REN76292;REN76293;REN76294;REN76295;REN76296;REN76297;REN76298;REN76299;REN76300;REN76301;REN76302;REN76303;REN76304;REN76305;REN76306;REN76307;REN76308;REN76309;REN76310;REN76311;REN76312;REN76313;REN76314;REN76315;REN76316;REN76317;REN76318;REN76319;REN76320;REN76321;REN76322;REN76323;REN76324;REN76325;REN76326;REN76327;REN76328;REN76329;REN76330;REN76331;REN76332;REN76333;REN76334;REN76335;REN76336;REN76337;REN76338;REN76339;REN76340;REN76341;REN76342;REN76343;REN76344;REN76345;REN76346;REN76347;REN76348;REN76349;REN76350;REN76351;REN76352;REN76353;REN76354;REN76355;REN76356;REN76357;REN76358;REN76359;REN76360;REN76361;REN76362;REN76363;REN76364;REN76365;REN76366;REN76367;REN76368;REN76369;REN76370;REN76371;REN76372;REN76373;REN76374;REN76375;REN76376;REN76377;REN76378;REN76379;REN76380;REN76381;REN76382;REN76383;REN76384;REN76385;REN76386;REN76387;REN76388;REN76389;REN76390;REN76391;REN76392;REN76393;REN76394;REN76395;REN76396;REN76397;REN76398;REN76399;REN76400;REN76401;REN76402;REN76403;REN76404;REN76405;REN76406;REN76407;REN76408;REN76409;REN76410;REN76411;REN76412;REN76413;REN76414;REN76415;REN76416;REN76417;REN76418;REN76419;REN76420;REN76421;REN76422;REN76423;REN76424;REN76425;REN76426;REN76427;REN76428;REN76429;REN76430;REN76431;REN76432;REN76433;REN76434;REN76435;REN76436;REN76437;REN76438;REN76439;REN76440;REN76441;REN76442;REN76443;REN76444;REN76445;REN76446;REN76447;REN76448;REN76449;REN76450;REN76451;REN76452;REN76453;REN76454;REN76455;REN76456;REN76457;REN76458;REN76459;REN76460;REN76461;REN76462;REN76463;REN76464;REN76465;REN76466;REN76467;REN76468;REN76469;REN76470;REN76471;REN76472;REN76473;REN76474;REN76475;REN76476;REN76477;REN76478;REN76479;REN76480;REN76481;REN76482;REN76483;REN76484;REN76485;REN76486;REN76487;REN76488;REN76489;REN76490;REN76491;REN76492;REN76493;REN76494;REN76495;REN76496;REN76497;REN76498;REN76499;REN76500;REN76501;REN76502;REN76503;REN76504;REN76505;REN76506;REN76507;REN76508;REN76509;REN76510;REN76511;REN76512;REN76513;REN76514;REN76515;REN76516;REN76517;REN76518;REN76519;REN76520;REN76521;REN76522;REN76523;REN76524;REN76525;REN76526;REN76527;REN76528;REN76529;REN76530;REN76531;REN76532;REN76533;REN76534;REN76535;REN76536;REN76537;REN76538;REN76539;REN76540;REN76541;REN76542;REN76543;REN76544;REN76545;REN76546;REN76547;REN76548;REN76549;REN76550;REN76551;REN76552;REN76553;REN76554;REN76555;REN76556;REN76557;REN76558;REN76559;REN76560;REN76561;REN76562;REN76563;REN76564;REN76565;REN76566;REN76567;REN76568;REN76569;REN76570;REN76571;REN76572;REN76573;REN76574;REN76575;REN76576;REN76577;REN76578;REN76579;REN76580;REN76581;REN76582;REN76583;REN76584;REN76585;REN76586;REN76587;REN76588;REN76589;REN76590;REN76591;REN76592;REN76593;REN76594;REN76595;REN76596;REN76597;REN76598;REN76599;RH27835;RH69037;SLC5A1_3860;stSG602480;stSG602481;stSG602482;stSG602483;stSG602484;stSG602485;stSG602487;stSG602488;stSG602489;stSG602490;stSG602491;stSG602492;stSG602493;stSG602494;stSG602495;stSG602496;stSG602497;stSG602498;stSG602499;stSG602500;stSG602501;stSG602502;stSG602503;stSG602505;stSG602506;stSG602507;stSG602508;stSG602509;stSG602510;stSG602511;stSG602512;stSG602513;stSG602514;stSG602515;stSG602516;stSG602517;stSG602518;stSG602519;stSG602520;stSG602521;stSG602522;stSG602523;stSG602524;stSG602526;stSG602527;stSG602528;stSG602529;stSG602530;stSG602531;stSG602532;stSG602533;stSG602534;stSG602535;stSG602536 D22S675;NAGT;SGLT1 Na+/glucose cotransporter 1;OTTHUMP00000028869;high affinity sodium-glucose cotransporter;sodium/glucose cotransporter 1;solute carrier family 5, member 1 APPROVED protein-coding ENSG00000100170 HGNC:11036 01668 182380;606824 REVIEWED 6481296 SLC6A1-AS1 SLC6A1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 3 3 11047784 11060910 - 11006098 11019224 - 8554872 16344560 100874090 ABBA01025229;AC024910;AMYH02006262;DA771774;HG495490;NR_046647 Hs.628542 AC024910.2 APPROVED ncrna ENSG00000232287 HGNC:40546 PREDICTED 1343735 SLC6A10P solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene INTERACTS WITH 2-methylcholine; trichostatin A; valproic acid 16 16 16 p11.2 5801 7607 - 32888797 32896463 - 32877476 32885142 - 6480464 12477932;16125675;24144841;8661037;8817324;9154116 386757 Q6ZUB2 AC142086;AK125843;AMYH02031902;BC117243;NR_003083;U41163 AAA96028;BAC86314 Hs.433146 CT-2;CT2;FLJ43855;SLC6A10;SLC6A10pA;SLC6A10pB similar to sodium- and chloride-dependent creatine transporter;solute carrier family 6 (neurotransmitter transporter, creatine), member 10 APPROVED pseudo ENSG00000214617 HGNC:11043 13479 PROVISIONAL 731475 SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 The SLC6A1 gene encodes a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft (Hirunsatit et al., 2009 [PubMed 19077666]).[supplied by OMIM, Jul 2009] 3 3 3 p25.3 10969866 11016381 + 11034420 11080935 + 10992734 11039249 + 1580863;1643191;1643202;1643208;1643214;1643219;1643206;1643209;1643205;1643217;6480464;8554872 11191352;12111474;12196583;15084665;15149801;15248296;15349978;15976529;17918738 10197772;10640187;11017172;11555659;11744314;11960023;12446715;12477932;12925537;14702039;14744863;15106822;15496410;15905165;16344560;17099065;17210573;17440935;17500595;17544870;17941974;17967412;17994179;18005940;18367207;18607529;18821565;18846501;19058789;19077666;19086053;19201752;19622377;20237276;20655483;21098479;21131297;22235131;22437554;22737235;23288838;2387399;8530094;8995422;9195904;9512391;9623887;9698305 6529 B7Z3C5;C9J5P8;P30531 ABBA01025229;AC024910;AK090958;AK295702;AMYH02006262;BC033904;BC057291;CH471055;DA162953;KF457578;KF457580;NM_003042;X54673;XM_005265410;XM_005265411;XM_006713306 AAH33904;ABM82148;ABM85331;BAH12161;CAA38484;EAW64088;EAW64089;EAW64090;NP_003033;P30531;XP_005265467;XP_005265468;XP_006713369 Hs.443874 1652189;1700458;1796840;2152446;5024270;5492373 D3S3997;RH103850;SGC30830;SLC6A1_849;Slc6a1;WI-14944 GAT-1;GAT1 GABA transporter 1;GABATHG;GABATR;OTTHUMP00000041132;gaba transporter protein;sodium- and chloride-dependent GABA transporter 1;solute carrier family 6 (neurotransmitter transporter, GABA), member 1;solute carrier family 6 member 1 APPROVED protein-coding ENSG00000157103 HGNC:11042 00664 137165 VALIDATED 1347984 SLC6A14 solute carrier family 6 (amino acid transporter), member 14 This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010] X X X q23 115546148 115571020 - 115567747 115592625 + 116436579 116461458 + 1625271;1625272;1625275;1625278;1580863;6480464;7240710;8554872 15300171;15331564;17006743;17065219 10446133;10999806;12388375;12477932;14660752;15489334;15772651;15905073;16344560;17575980;18029348;18195088;18599538;18700007;19190083;19199708;19876004;19913121;20628086;22466613;8889548 11254 B2R8J1;Q9UN76 ABBA01049248;ABBA01049249;ABBA01049250;ABBA01049251;AC241580;AF151978;AK304243;AK313390;AL034411;AMYH02040297;BC093710;BC093712;BU686768;CH471234;DB207650;DB207722;NG_021305;NM_007231;Z96810 AAD49223;AAH93710;AAH93712;BAG36188;BAG65111;CAI42799;CAI43081;EAW51500;EAW51501;NP_009162;Q9UN76 Hs.522109 1335143;1689865;1796838;5106120 DXS6804;RH93168;SLC6A14;SLC6A14_411.2 ATB(0+);BMIQ11 OTTHUMP00000023880;amino acid transporter ATB0+;amino acid transporter B0+;sodium- and chloride-dependent neutral and basic amino acid transporter B(0+);solute carrier family 6 (neurotransmitter transporter), member 14;solute carrier family 6 member 14 APPROVED protein-coding ENSG00000268104 HGNC:11047 02344 300306;300444 REVIEWED 735866 SLC6A15 solute carrier family 6 (neutral amino acid transporter), member 15 This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 12 12 12 q21.3 84916853 84970192 - 85253267 85306608 - 84859488 84912829 - 737637;1580863;6480464 11112352 10471414;12477932;14702039;15489334;16185194;16226721;16344560;18195088;19147495;21139048;21521612;21890473;21987572;22053931;22475622;22889411;23820837;23942779;8889548 55117 F8VSG1;F8VX16;F8WJN6;Q8IXG2;Q9H2J7;Q9NW50;S4R439 ABBA01053446;AC018922;AF265577;AF351619;AI368909;AK001178;AK022853;AK291207;AK294945;AL050066;AMYH02026869;AMYH02026870;BC022253;BC070040;BE535587;BM696062;CF529868;CH471054;CR749673;DA247242;KF455682;KF455685;KF455694;NM_001146335;NM_018057;NM_182767 AAG41361;AAH22253;AAH70040;AAN76519;BAA91536;BAB14274;BAF83896;BAH11933;CAH18464;EAW97388;EAW97389;EAW97390;NP_001139807;NP_060527;NP_877499;Q9H2J7 Hs.44424 1647088;1667115;1683265;1746305;1746401;1746917;1753013;1857852;2109857;2130313;2130807 A004A20;D12S1214E;G64529;G64530;G64783;RH45707;RH92709;SHGC-30472;SHGC-53313;SHGC-68514;SLC6A15_9875 DKFZp761I0921;FLJ10316;MGC87066;NTT73;SBAT1;V7-3;hv7-3 OTTHUMP00000241973;OTTHUMP00000241974;OTTHUMP00000241979;homolog of rat orphan transporter v7-3;orphan sodium- and chloride-dependent neurotransmitter transporter NTT73;orphan transporter v7-3;sodium- and chloride-dependent neurotransmitter transporter NTT73;sodium-coupled branched-chain amino-acid transporter 1;sodium-dependent neutral amino acid transporter B(0)AT2;sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7;solute carrier family 6 (neurotransmitter transporter), member 15;solute carrier family 6 member 15;solute carrier family 6, member 15;transporter v7-3 APPROVED protein-coding ENSG00000072041 HGNC:13621 12141 607971 VALIDATED 1353315 SLC6A16 solute carrier family 6, member 16 SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008] 19 19 19 q13.33 46659740 46695326 - 49792889 49828521 - 49289632 49331093 - 737637;1580863;6480464;8554872 11112352 10471414;11230166;12477932 28968 M0QYK3;M0QZL4;M0R1Y6;M0R2R5;Q9GZN6 ABBA01032933;ABBA01032934;ABBA01032935;AC011450;AF151977;AF265578;AL136856;AMYH02036316;AW451672;BC034948;BG772801;CH471177;NM_014037;XM_005258819;XM_005258820;XM_006723168 AAD38044;AAG41362;AAH34948;ADZ15362;CAB66790;EAW52464;NP_054756;Q9GZN6;XP_005258876;XP_005258877;XP_006723231 Hs.130949 1652503;1698040;1857441;2107609;2170188 RH102551;SGC34294;SHGC-34723;SHGC-58287;SLC6A16__6852 NT5;NTT5 orphan sodium- and chloride-dependent neurotransmitter transporter NTT5;solute carrier family 6 (neurotransmitter transporter), member 16 APPROVED protein-coding ENSG00000063127 HGNC:13622 607972 VALIDATED 1603474 SLC6A17 solute carrier family 6 (neutral amino acid transporter), member 17 The SLC6 family of proteins, which includes SLC6A17, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Mar 2008] 1 1 1 p13.3 108940307 108992002 + 110693132 110744824 + 110150510 110202202 + 6480464;8554872 12477932;14702039;16125675;16344560;16710414;19147495;20379614;21906983;21963094;22589738 388662 Q6ZV87;Q9H1V8 ABBA01068388;AK054687;AK124875;AK289982;AK297429;AL137437;AL137790;AL355990;AL833249;AMYH02001721;BC140908;CH471122;DA081361;DA325382;NM_001010898;XM_006710643 AAI40909;BAC85976;BAF82671;BAG59857;EAW56432;NP_001010898;Q9H1V8;XP_006710706 Hs.128382 1337741;1678113;1699046;1722921;1729175;2107611;2136646;2144385 D1S2695;G60557;RH103098;RH94096;SHGC-30398;SLC6A17__6853;WI-19280;WI-9875 NTT4 OTTHUMP00000013508;orphan sodium- and chloride-dependent neurotransmitter transporter NTT4;sodium-dependent neurotransmitter transporter NTT4;sodium-dependent neutral amino acid transporter SLC6A17;solute carrier family 6 (neurotransmitter transporter), member 17;solute carrier family 6, member 17 APPROVED protein-coding ENSG00000197106 HGNC:31399 18061 610299 VALIDATED 733725 SLC6A13 solute carrier family 6 (neurotransmitter transporter), member 13 ENCODES a protein that exhibits gamma-aminobutyric acid:sodium symporter activity (inferred); neurotransmitter:sodium symporter activity (inferred); INVOLVED IN gamma-aminobutyric acid transport (inferred); neurotransmitter secretion (inferred); neurotransmitter transport (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; arsane 12 12 12 p13.3 1938637 1980875 - 329787 372039 - 220621 262873 - 1580863;6480464 11824941;12477932;1400419;15252450;16125675;16344560;17502375;19056867;19086053;19450549;19874574;19913121;20379614;20383146;20398908;20424473;20628086;22932902;23275563;23378610;8889548 6540 F5GZA5;F5H5D9;F5H6S9;Q9NSD5 ABBA01048857;AC007406;AF462445;AI802118;AK295904;AK296127;AK296209;AK313511;AMYH02025850;BC020867;BC022392;BM662288;CH471116;DA374290;DB540466;DQ786244;NM_001190997;NM_001243392;NM_016615;U76343;XM_005253749;XM_006719006;XM_006719007;XM_006719008;XM_006719009 AAF64247;AAH20867;AAH22392;AAP97713;ABM82951;ABM86143;BAG36291;BAG58695;BAG58873;BAG58935;EAW88972;EAW88973;EAW88974;NP_001177926;NP_001230321;NP_057699;Q9NSD5;XP_005253806;XP_006719069;XP_006719070;XP_006719071;XP_006719072 Hs.504398;Hs.733878 1663660;1689047;1794396;2142294;2159322 D12S1256;D12S2046;PMC311068P1;RH93085;WI-17955 GAT-2;GAT2;GAT3 GABA transport protein;GABA transporter 2;OTTHUMP00000237738;sodium- and chloride-dependent GABA transporter 2;solute carrier family 6 (neurotransmitter transporter, GABA), member 13;solute carrier family 6 member 13 APPROVED protein-coding ENSG00000010379 HGNC:11046 10239 615097 VALIDATED 1604954 SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq, Jul 2008] 5 5 5 p15.33 1238608 1262115 + 1201710 1225232 + 1201595 1225117 + 6480464;7240710;8554872;8699517 11394870;14702039;15044460;15286787;15286788;17555458;18195088;18484095;18671945;19056867;19322909;19335424;20301334;20399395;20883558;21964291;23234856 340024 E9PD72;Q695T7 ABBA01034208;AC114291;AI015994;AK000687;AK091954;AK096054;AK123779;AK290811;AMYH02010763;AMYH02010764;AY591756;AY596807;CH471102;NG_008282;NM_001003841 AAI46291;AAI48802;AAT42127;AAT66171;BAF83500;BAG53204;BAG53960;EAX08174;EAX08175;NP_001003841;Q695T7 Hs.481478 B0AT1;FLJ20680;FLJ34635;HND OTTHUMP00000220493;sodium-dependent amino acid transporter system B0;sodium-dependent neutral amino acid transporter B(0)AT1;solute carrier family 6 (neurotransmitter transporter), member 19;solute carrier family 6 member 19;system B(0) neutral amino acid transporter AT1;system B0 neutral amino acid transporter APPROVED protein-coding ENSG00000174358 HGNC:27960 10596 138500;234500;242600;608893 REVIEWED 1603308 SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 45734543 45775644 - 45796941 45838039 - 45755449 45796547 - 6480464;7240710;8554872 11352561;12477932;15308626;15632147;18195088;19033659;19657969;21572414;22610502;23333304;9932288 54716 B7ZLW4;C9JIN6;Q9NP91 ABBA01024721;AC098476;AF075260;AF125107;AJ276207;AJ276208;AJ289880;AL389979;AMYH02006667;BC036073;BC126197;BC136431;BC144087;CH471055;DR006419;EL949345;NG_023204;NM_020208;NM_022405;XM_005265236 AAC27755;AAI26198;AAI36432;AAI44088;AAL75944;ADR83334;CAB96872;CAB97535;CAB99310;CAB99311;EAW64747;EAW64748;NP_064593;NP_071800;Q9NP91;XP_005265293 Hs.413095 2112690 D3S4405 MGC161475;SIT1;XT3;Xtrp3 OTTHUMP00000164648;OTTHUMP00000164649;X transporter protein 3;neurotransmitter transporter RB21A;orphan transporter XT3;sodium- and chloride-dependent transporter XTRP3;sodium/imino-acid transporter 1;solute carrier family 6 (neurotransmitter transporter), member 20;transporter rB21A homolog APPROVED protein-coding ENSG00000163817 HGNC:30927 16128 138500;242600;605616 REVIEWED 2303486 SLC6A21P solute carrier family 6, member 21, pseudogene 19 19 19 q13.33 46622473 46626480 - 49755590 49759597 - 49252333 49256340 - 16125675 652969 ABBA01032935;AC008891;AMYH02036314;NG_009578 SLC6A21 APPROVED pseudo HGNC:31400 INFERRED 1346320 SLC6A18 solute carrier family 6 (neutral amino acid transporter), member 18 The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010] 5 5 5 p15.33 1262353 1283111 + 1225470 1246304 + 1225355 1246189 + 737633;1580863;6480464 12477932 14702039;15286787;15489334;16125675;16340170;18195088;18554081;19478081;19692168;21420947 348932 Q96N87 ABBA01034207;ABBA01034208;AC114291;AK055798;AK298257;AMYH02010764;AY007685;BC056757;CH471102;NM_182632;XM_005248298 AAG23290;AAH56757;BAB71018;BAG60521;EAX08172;EAX08173;NP_872438;Q96N87;XP_005248355 Hs.213284 FLJ31236;Xtrp2 OTTHUMP00000115414;sodium channel-like protein;sodium- and chloride-dependent transporter XTRP2;sodium-dependent neutral amino acid transporter B(0)AT3;solute carrier family 6 (neurotransmitter transporter), member 18;solute carrier family 6, member 18;system B(0) neutral amino acid transporter AT3 APPROVED protein-coding ENSG00000164363 HGNC:26441 15396 610300 VALIDATED 731509 SLC6A12 solute carrier family 6 (neurotransmitter transporter), member 12 ENCODES a protein that exhibits gamma-aminobutyric acid:sodium symporter activity (inferred); neurotransmitter:sodium symporter activity (inferred); INVOLVED IN amino acid transport (inferred); cellular hyperosmotic response (inferred); cellular water homeostasis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; acetylsalicylic acid; aflatoxin B1 12 12 12 p13 1907867 1932231 - 299243 323740 - 190077 214205 - 1580863;6480464;8554872 10228153;12111824;12477932;14702039;15123239;16198020;16344560;18195088;19086053;19204726;20383146;20424473;20597903;21367462;22405821;23378610;24829506;7589472;7861179 6539 F5H2T6;F5H4L6;P48065 ABBA01048857;AC007406;AI241640;AK096046;AK125026;AK131564;AK307167;AK313690;AMYH02025849;AMYH02025850;BC026339;BC036838;BC126215;BC126217;CH471116;DA093632;DA390883;DA406088;DA638367;L42300;NM_001122847;NM_001122848;NM_001206931;NM_003044;U27699;XM_005253746;XM_005253747;XM_005253748;XM_006719005 AAA66574;AAA87029;AAI26216;AAI26218;ADR83067;BAD18697;BAG36439;BAG53203;BAG54125;EAW88975;EAW88976;EAW88977;EAW88978;NP_001116319;NP_001116320;NP_001193860;NP_003035;P48065;XP_005253803;XP_005253804;XP_005253805;XP_006719068 Hs.437174;Hs.737267 1657038;1659010;1792202;1798200;2117104 G41013;PMC139224P1;RH79135;SLC6A12_1341;WI-18098 BGT-1;BGT1;FLJ38727;GAT2 Na(+)/Cl(-) betaine/GABA transporter;OTTHUMP00000115358;OTTHUMP00000237543;OTTHUMP00000237583;betaine/GABA transporter-1;gaba transporter;gamma-aminobutyric acid transporter;sodium- and chloride-dependent betaine transporter;solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12;solute carrier family 6 member 12 APPROVED protein-coding ENSG00000111181 HGNC:11045 04358 603080 VALIDATED 732372 SLC6A11 solute carrier family 6 (neurotransmitter transporter), member 11 Gamma-aminobutyric acid (GABA) is a major inhibitory neurotransmitter. GABAergic neurotransmission is terminated by the uptake of GABA into the presynaptic terminal and the surrounding astroglial cells by sodium-dependent transporters, such as SLC6A11 (Borden et al., 1994 [PubMed 7874447]).[supplied by OMIM, Nov 2010] 3 3 3 p25.3 10793362 10915588 + 10857917 10980146 + 10816232 10938460 + 1580863;1643196;1299345;6480464;8554872 13678673;17408599 12477932;1400419;18334916;19086053;19450549;19874574;20379614;20424473;21776001;22491018;23225341;7874447 6538 P48066 ABBA01025230;AC018495;AC027128;AK312719;AMYH02006261;AMYH02006262;BC036083;CH471055;CS409836;KF454951;KF510222;NM_014229;S75989 AAB33570;AAH36083;AAI52736;BAG35593;CAL40956;EAW64086;EAW64087;NP_055044;P48066 Hs.657405 1675182;1754887;1760867;1761513;2142686;2142688;2163700 A001T39;G19637;RH18458;SHGC-141816;SHGC-144538;SHGC-145517;SHGC-36836 GAT-3;GAT3;GAT4 GABA transporter 3;OTTHUMP00000160132;sodium- and chloride-dependent GABA transporter 3;solute carrier family 6 (neurotransmitter transporter, GABA), member 11;solute carrier family 6 member 11 APPROVED protein-coding HGNC:11044 06406 607952 PROVISIONAL 1344650 SLC6A6P1 solute carrier family 6, member 6 pseudogene 1 21 21 21 q21.1 5792009 5794011 + 20616712 20618714 + 19244395 19246397 + 10830953;19240061 54019 ABBA01057144;AMYH02037578;AP000855;AP001675;NG_000901 SLC6A6P APPROVED pseudo HGNC:11053 INFERRED 734004 SLC6A7 solute carrier family 6 (neurotransmitter transporter), member 7 This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008] 5 5 5 q32 145650900 145672027 + 149569520 149590635 + 150189957 150211072 + 1580863;6480464 12477932;14702039;15489334;19874574;20379614;20424473;20431603;7651355;7797577;8889548 6534 E5RJL1;Q99884 ABBA01026283;ABBA01026284;AC005895;AK096607;AK308895;AK312309;AMYH02012455;BC069631;BC093785;BC113425;BM682856;CH471062;NM_014228;S80071 AAB47007;AAH69631;AAH93785;AAI13426;ADR83094;BAG35234;EAW61743;EAW61744;NP_055043;Q99884 Hs.241597 1331607;1337120;1798202 D5S2013;D5S2015;SLC6A7_2321 PROT OTTHUMP00000160521;OTTHUMP00000226021;brain-specific L-proline transporter;sodium-dependent proline transporter;solute carrier family 6 (neurotransmitter transporter, L-proline), member 7;solute carrier family 6 member 7 APPROVED protein-coding ENSG00000011083 HGNC:11054 09371 606205 VALIDATED 732915 SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. [provided by RefSeq, Oct 2009] 11 11 11 p15.1 20753868 20809521 + 20620946 20676610 + 20599400 20655064 + 1580863;6480464;8699517;7240710;8554872 10381548;10606742;10722844;11036075;11709067;12091465;12477932;12738009;14675166;15124103;15276154;15489334;16691125;16751771;16884688;18638388;19086053;19650813;20219997;20301437;20424473;20859245;20934189;21397641;22700964;22753417;22889411;23251661;23484054;23962079;9845349 9152 J3KNC4;Q4VAM5;Q4VAM6;Q9Y345 AA625644;ABBA01061027;ABBA01061028;ABBA01061029;AC090707;AF085412;AF117999;AF142501;AF352733;AMYH02024415;BC096319;BC096320;BC096321;BC096322;CH471064;NG_013086;NM_004211;XM_005253225 AAC95145;AAD27892;AAH96319;AAH96320;AAH96321;AAH96322;AAK12641;AAK29670;EAW68330;NP_004202;Q9Y345;XP_005253282 Hs.136557 1342404;1722911;1737999;1761801 D11S3601;D11S4114;G60550;SHGC-145762 GLYT-2;GLYT2;HKPX3;NET1 OTTHUMP00000231736;glycine transporter 2;sodium- and chloride-dependent glycine transporter 2;solute carrier family 6 (neurotransmitter transporter, glycine), member 5;solute carrier family 6 member 5 APPROVED protein-coding HGNC:11051 08378 604159;614618 REVIEWED 731947 SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2 This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 16 16 16 q12.2 40203750 40254437 + 55689542 55740104 + 55655630 55706192 + 1624279;1624278;1580863;6480464;6218960;7240710;8554872;8699517 10684912;17124432;18800064 10037744;11343649;11707293;11739781;11744160;11875370;11920844;11927173;12097806;12127072;12140790;12210281;12210284;12374639;12401556;12477932;12480177;12589229;12629174;12787070;12805287;14620922;14675164;14726430;15118352;15135235;15138209;15322419;15337646;15362567;15485485;15539861;15717291;15719398;15722184;15757904;15763138;15763139;15900230;15946904;15963952;16024787;16092934;16189177;16242784;16272960;16344560;16538182;16573647;16712949;16741933;16848906;16965261;16969268;17032905;17146058;17156375;17239355;17353941;17404580;17428804;17475971;17621171;17630229;17654409;17845831;17876324;17917281;17920180;17955457;17994190;18029348;18081710;18085566;18089827;18163388;18187607;18196892;18197080;18214863;18259012;18331289;18511195;18552510;18591486;18617423;18629431;18702937;18779921;18821564;18821565;18821566;18937296;18937309;19058789;19086053;19095219;19105200;19352218;19365399;19387424;19468717;19483189;19506906;19564048;19649213;19685476;19693267;19698724;19721846;19727679;19808400;19844206;19858760;19874574;19913121;19944766;20017301;2008212;20332182;20351714;20398908;20424473;20468064;20491280;20588071;20628086;20681272;20691427;20700532;20818294;20863575;20929549;21070505;21149640;21412203;21416264;21498515;21569456;21739117;21883217;21885739;22234472;22297068;22311378;22405810;22533655;22544311;22591463;22723437;23052569;23086945;23185385;23266789;23469073;23648227;23809226;23969988;23979140;24346757;24374057;7488042;7905857;8478011;9655936;9808705 6530 H3BM11;H3BML6;H3BMY5;H3BRE9;H3BRS0;I3L368;P23975 AB022846;AB022847;ABBA01066526;AC136621;AF061198;AK301811;AK310410;AK312793;AMYH02032076;AU132072;BC000563;BC039309;BC060831;CH471092;DA853047;M65105;NG_016969;NM_001043;NM_001172501;NM_001172502;NM_001172504;X91117;X91119;XM_006721263 AAA59943;AAD17521;AAH00563;AAI56904;BAA82110;BAA82111;BAG35654;BAG63260;CAA62566;CAC39181;EAW82831;EAW82832;EAW82833;EAW82834;EAW82835;NP_001034;NP_001165972;NP_001165973;NP_001165975;P23975;XP_006721326 Hs.78036 1653915;1765647;1787594;2126130 D16S3351;SHGC-149089;SHGC-155920;SHGC-61051 NAT1;NET;NET1;SLC6A5 OTTHUMP00000164270;neurotransmitter transporter;norepinephrine transporter;sodium-dependent noradrenaline transporter;solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2;solute carrier family 6 (neurotransmitter transporter,noradrenalin), member 2;solute carrier family 6 member 5 APPROVED protein-coding ENSG00000103546 HGNC:11048 01232 163970;604715 REVIEWED 731925 SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008] 19 19 19 q13.1 30393162 30410341 - 33699570 33716756 - 33208664 33225850 - 1580863;6480464 10734121;10863037;11441184;11509015;12477932;15458438;15489334;15901826;18195088;21888942;22589738 56301 K7EK24;K7ENB6;Q9NS82 AB037670;ABBA01039621;AC008738;AF340165;AJ277731;AK000846;AK307527;AK316594;AMYH02035938;BC022457;BC035627;NM_019849;XM_006723284;XM_006723285 AAH35627;AAK93960;ADZ15434;BAA91397;BAB03213;BAG38181;CAC81900;NP_062823;Q9NS82;XP_006723347;XP_006723348 Hs.58679 1848320;2145241 D19S392;SHGC-52396 FLJ20839;HASC-1;asc-1 asc-type amino acid transporter 1;solute carrier family 7 member 10;solute carrier family 7, (cationic amino acid transporter, y+ system) member 10;solute carrier family 7, (neutral amino acid transporter, y+ system) member 10 APPROVED protein-coding ENSG00000130876 HGNC:11058 12137 607959 VALIDATED 69004 SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6 This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 3 3 3 p25.1 14382349 14469089 + 14444076 14530857 + 14402576 14489349 + 1580863;6480464;8554872 11140363;12062416;12163498;12477932;12681485;12871209;12908594;12908596;12908598;15142033;15166008;1518851;15225620;15630186;15701671;15907840;16356117;16729199;16956961;17153588;17153592;18195088;18501699;18703994;19074966;19423693;19602579;19734545;20424473;21139048;21739148;21890473;21906983;21963094;21987572;23000965;23006423;23180277;23392873;23392891;23392892;23519128;24866236;7774940;7881434;8010975;8382624;8654117;8889548 6533 AAB25509;B4E140;C9JPV1;H7C1B9;P31641;Q59GD7 AB209172;ABBA01025158;ABBA01025159;AC090941;AC090952;AC093496;AEKP01055341;AF346763;AK303649;AK307284;AK308417;AK309534;AMYH02006320;AMYH02006321;BC006252;BC111489;BC137128;BC137129;BC144490;BM149397;BM873716;BM981004;BQ945675;BU625571;BX478649;BX509263;BX510251;CA448606;CD366732;CH471055;DC359099;NM_001134367;NM_001134368;NM_003043;NR_103507;U09220;U16120;XM_006713307;XR_427286;Z18956 AAA50842;AAB25509;AAC50443;AAH06252;AAI11490;AAI37129;AAI37130;AAK30132;BAD92409;BAG64652;CAA79481;EAW64192;EAW64193;EAW64194;EAW64195;NP_001127839;NP_001127840;NP_003034;P31641;XP_006713370 Hs.529488 1649431;1668056;1730269;1734264;1788894;1788896;2122344;2137114 D3S1325E;D3S2754E;D3S3892;D3S4548;G67700;G67701;SHGC-31156;STS-M78677 MGC10619;MGC131729;TAUT OTTHUMP00000208177;OTTHUMP00000208180;sodium- and chloride-dependent taurine transporter;solute carrier family 6 (neurotransmitter transporter, taurine), member 6;solute carrier family 6 member 6;solute carrier family 6, member 6;taurine transporter APPROVED protein-coding ENSG00000131389 HGNC:11052 01734 186854 REVIEWED 736349 SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 ENCODES a protein that exhibits arginine transmembrane transporter activity (inferred); INVOLVED IN amino acid transmembrane transport (inferred); amino acid transport (inferred); arginine transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 8-bromo-3',5'-cyclic AMP 13 13 13 q12.3 11159177 11245451 - 30083551 30169825 - 29509414 29595688 - 1580863;6480464;8554872 10485994;11665818;11891586;12202949;12388095;12477932;12787129;1348489;14702039;15057823;15064952;15086470;15342556;15489334;15491978;15631944;16344560;16751776;1718082;17325243;17494634;18172665;18195088;18574322;19067360;19322201;19946888;21139048;21212261;21302286;21308737;21722652;21832049;21890473;21906983;21923750;21987572;22053931;22505724;22705145;22870827;23000965;23009292;23824909;23841815;24040099;24816145 6541 P30825;Q5JR49 AA527433;ABBA01035712;ABBA01035713;AF078107;AI362952;AK022999;AK124591;AK312818;AL050021;AL596114;AMYH02027779;BC012895;BC033200;BC063303;BC069358;BC115407;BG248687;BM458630;BP356532;CH471075;DA337847;DA394628;NM_003045;X57303;X59155;XM_005266507 AAC27721;AAH63303;AAH69358;AAI15408;BAG35675;CAA40560;CAA41869;EAX08443;EAX08444;NP_003036;P30825;XP_005266564 Hs.14846 1667697;1705700;1738377;1738391;1755731;1781726;2107613;2125229;2156028 D13S652E;D13S661E;G29227;RH71285;SHGC-142580;SHGC-155278;SHGC-83431;SLC7A1_7877;STS-AA007155 ATRC1;CAT-1;CAT1;ERR;HCAT1;REC1L OTTHUMP00000018189;amino acid transporter, cationic 1;ecotropic retroviral leukemia receptor homolog;ecotropic retroviral receptor;ecotropic retrovirus receptor homolog;high affinity cationic amino acid transporter 1;solute carrier family 7 member 1;solute carrier family 7, member 1;system Y+ basic amino acid transporter protein-coding ENSG00000139514 HGNC:11057 00091 104615 VALIDATED 6484057 SLC7A11-AS1 SLC7A11 antisense RNA 1 4 4 4 q28.3 136349339 136438728 + 139010168 139099331 + 138089014 138178177 + 12477932 641364 ABBA01044913;ABBA01044914;ABBA01044915;AC105310;AC110804;AMYH02010178;AMYH02010179;BC040999;DB443521;NR_038380 Hs.570846 1652424;1674394;1857679;2162733;2164832;2171380 D4S1139;D4S1385;D4S3103;D4S857;RH36112;SHGC-51032 APPROVED ncrna ENSG00000250033 HGNC:44064 VALIDATED 1323193 SLC7A13 solute carrier family 7 (anionic amino acid transporter), member 13 ENCODES a protein that exhibits amino acid transmembrane transporter activity (inferred); INVOLVED IN amino acid transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cadmium dichloride (ortholog); cyclosporin A (ortholog); ochratoxin A (ortholog) 8 8 8 q21.3 83421171 83437487 - 87226288 87242609 - 86214059 86230380 - 1580863;6480464;8554872 11907033;11943479;12477932;14702039;20379614 157724 Q8TCU3 ABBA01037358;AC084128;AJ417661;AK055815;AMYH02018360;BC029436;BC125165;BC125166;CH471060;KC877260;NM_138817;XM_005250804 AAH29436;AAI25166;AAI25167;BAB71021;CAD10393;EAW91633;NP_620172;Q8TCU3;XP_005250861 Hs.149095 1786820;2218016 SHGC-172426;SLC7A13_3723 AGT-1;AGT1;MGC150476;MGC150477;XAT2 OTTHUMP00000224513;OTTHUMP00000224514;X-amino acid transporter 2;amino acid transporter XAT2;sodium-independent aspartate/glutamate transporter 1;solute carrier family 7 member 13;solute carrier family 7, (cationic amino acid transporter, y+ system) member 13 APPROVED protein-coding ENSG00000164893 HGNC:23092 15397 VALIDATED 1605648 SLC7A14 solute carrier family 7, member 14 This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014] 3 3 3 q26.2 168576516 168703058 - 170177342 170303863 - 170459554 170586074 - 6480464;8699517;7240710;8554872 10997877;12477932;14702039;16344560;19389623;20379614;22787143;24670872 57709 Q8TBB6 AB046833;ABBA01058676;ABBA01058677;AC008041;AK094547;AK122655;AMYH02008122;AMYH02008123;AMYH02008124;BC022968;CH471052;DA475001;KF510226;N64525;NG_034121;NM_020949;XM_006713718 AAH22968;BAB13439;BAG53645;EAW78510;NP_066000;Q8TBB6;XP_006713781 Hs.596660 1337673;1339823;1659699;1723693;1751865;1756137;1760597;5015961;5022322;5037552;7184464 D11S2560;D15S1477;D3S1564;D3S3723;D8S2279;RH123089;RH78995;SHGC-105847;SHGC-142944;SHGC-144148 FLJ37228;KIAA1613;PPP1R142;RP68 OTTHUMP00000213700;probable cationic amino acid transporter;solute carrier family 7 (cationic amino acid transporter, y+ system), member 14;solute carrier family 7 (orphan transporter), member 14;solute carrier family 7 member 14 APPROVED protein-coding ENSG00000013293 HGNC:29326 17222 615720;615725 REVIEWED 3476304 SLC7A15P solute carrier family 7, member 15, pseudogene 2 2 2 p24.1 20448877 20459078 + 20586147 20596346 + 20386386 20396585 + 15757906;18566733;20210993 100289450 ABBA01018474;AC007041;AMYH02003368;AMYH02003369;NG_012112 2119082 WI-8172 ARPAT APPROVED pseudo HGNC:32724 INFERRED 733809 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009] 5 5 5 p15.3 1429610 1484220 - 1392905 1445543 - 1392790 1445428 - 1358582;1625653;1625655;1625656;1625663;1625668;1580863;734997;6480464;6907045;7240710;8554872;8699517 12490667;12915833;14698456;15680936;16674552;9074541;9888856 10363710;10391209;10823899;10889531;11104840;11140838;11165777;11220753;11239904;11244477;11292651;11304827;11343649;11378848;11449401;11505915;11558224;11774209;11798784;11803442;11803445;11807408;11820798;11834311;11911442;11959130;11989984;12149916;12172219;12173460;12177201;12210886;12215242;12232785;12401557;12422069;12429746;12453630;12457396;12459514;12464618;12465073;12477932;12513948;12579508;12605102;12630565;12650952;12658362;12660802;12672538;12686408;12707931;12707943;12708251;12740596;12746456;12773538;12815660;12859681;12874502;12898575;12931138;12947560;12958153;1353885;1359373;1406597;14519759;14550771;14570538;14584093;14597628;14660644;14681904;14685824;14732464;14732864;14756560;14978671;15024013;15024426;15069467;15091313;15094788;15123239;15135042;15148564;15190232;15193761;15202772;15210531;15211638;15229055;15274029;15370155;15380858;15381926;15492001;15505207;15542698;15567077;15602501;15605097;15608954;15683546;15708296;15722958;15724142;15763138;15768394;15809660;15823165;15827573;15845322;15872345;15924135;15940306;15993876;15996968;16024787;16041244;16082688;16082693;16103889;16109590;16109712;16110277;16123773;16125912;16139170;16165273;16168728;16171832;16178930;16178931;16201143;16216085;16222334;16237680;16261167;16309561;16342279;16368111;16389200;16389711;16402340;16406146;16424823;16526026;16526040;16537431;16545000;16569110;16585476;16604301;16611807;16623961;16671078;16702979;16710758;16712949;16741944;16760197;16782077;16783497;16818870;16885233;16894395;16917950;16930369;16963468;17023870;17028370;17042887;17044099;17044101;17063150;17079728;17109713;17120049;17130883;17135598;17150335;17157268;17171650;17175058;17187291;17191306;17192955;17225991;17245411;17250655;17255098;17260170;17264803;17267664;17314918;17316573;17325714;17380124;17392738;17403983;17413453;17427187;17427194;17432702;17439486;17440935;17440951;17440978;17449448;17449559;17466074;17483451;17485610;17500623;17501935;17508355;17508996;17525955;17526637;17539957;17549062;17579365;17579368;17579611;17582621;17608284;17621383;17633563;17654295;17671965;17679637;17689985;17690944;17692827;17704152;17705902;17711354;17873367;17893706;17907820;17928119;17934207;17948872;17955457;17955458;17965994;17979508;18004640;18023044;18045777;18046306;18053732;18070248;18081165;18088380;18094849;18165969;18174826;18181793;18188752;18197080;18197081;18206700;18214864;18214865;18216182;18239643;18270970;18327668;18331164;18361424;18366104;18374902;18393256;18404133;18426798;18434601;18434921;18444252;18446263;18468730;18504048;18552399;18553389;18553640;18559107;18563706;18563707;18580852;18583979;18588943;18617632;18636124;18665883;18668530;18676680;18690117;18690118;18704100;18720903;18729135;18762727;18769827;18779819;18788325;18802919;18802924;18810510;18821566;18826446;18831910;18841010;18937294;18937842;18973248;19025233;19058789;19086053;19091889;19098122;19104049;19120712;19142409;19146920;19152006;19156168;19170196;19176830;19183461;19193883;19196467;19247849;19288168;19304505;19309018;19352218;19352220;19360691;19364291;19368898;19376159;19388000;19390575;19409950;19418498;19443134;19447357;19450132;19478460;19482231;19490304;19494806;19506579;19506906;19513381;19519258;19576958;19590515;19590691;19621370;19625176;19647327;19655343;19664686;19666577;19673036;19676101;19692168;19693267;19717274;19726478;19728374;19739106;19740369;19761593;19764480;19764934;19766158;19766189;19767592;19769301;19772578;19779799;19789190;19796878;19805704;19818050;19819301;19827313;19844206;19858760;19874574;19879111;19884604;19890261;19892410;19906444;19944766;19956635;19960520;20006992;20021740;20026227;20033274;20041956;20049490;20051513;20053379;20074437;20086298;20091113;20098830;20117122;20132487;20141527;20141587;20146095;20161733;20170711;20179766;20205808;20210499;20218802;20301402;20332413;20338240;20367960;20391341;20427663;20430042;20450954;20459035;20461808;20463658;20464528;20468064;20493539;20497233;20505554;20505557;20548783;20551163;20554017;20580759;20593420;20602615;20603187;20620172;20631684;20631685;20644949;20661460;20672519;20678555;20685009;20688912;20700532;20731709;20732903;20734064;20736997;20739786;20800641;20817043;20845394;20856247;20862259;20933528;20953736;20957647;20957668;20960275;20962236;21041608;21049181;21050355;21078357;21083670;21112253;21113497;21147099;21149640;21150814;21171728;21176997;21207241;21232548;21247255;21272388;21290414;21295544;21298009;21299752;21304140;21354244;21399631;21404331;21445667;21491204;21516943;21525861;21538554;21554332;21595008;21596533;21609749;21644994;21672565;21716015;21799208;21801841;21802993;21812871;21826203;21873779;21876545;21883027;21889247;21957239;21990355;22006250;22026501;22047966;22081881;22082040;22103304;22113132;22119468;22138326;22156764;22157025;22160470;22162768;22163275;22177721;22182296;22279524;22342155;22366190;22408582;22427685;22435397;22438288;22438994;22454241;22494359;22514303;22551036;22564179;22646917;22682503;22683321;22689927;22691013;22698582;22711722;22723947;22733030;22745713;22749356;22778840;22810728;22819977;22832428;22844499;22939506;22940645;22958175;23032071;23034259;23065263;23076524;23128675;23137414;23153115;23161550;23185343;23215821;23255304;23273726;23340505;23363412;23398760;23524636;23527493;23541676;23588108;23637880;23645138;23647133;23653272;23681294;23704939;23731290;23761898;23808292;23861813;23911780;23963056;23979605;23987116;24024899;24035787;24057505;24064458;24078578;24086483;24403155;24613933;24680725;24753048;24849661;24911152;24946437;7637582;7717410;8302271;8628395;9300814;9398650;9703165;9837830 6531 H0YBA7;H0YBU0;Q01959 ABBA01034203;ABBA01034204;AC026748;AC226057;AF119117;AF321321;AI586989;AK310589;AMYH02010765;AY623110;BC132977;BC133003;CH471102;CS223367;D88570;EF174603;HH935282;HI939012;HI939125;HI939238;HI987308;HI988463;HI988576;JA032831;JA033038;JA033639;JA142861;JA188612;JA188725;JA282299;JA288764;JA421398;L24178;M95167;M96670;NG_015885;NM_001044;S44626;S46955;U92262;Y10141 AAA11754;AAA19560;AAA35770;AAB23443;AAC41720;AAC50179;AAC51876;AAG33844;AAI32978;AAI33004;AAT38106;ABO77644;BAA22511;CAA71229;CAJ46923;CBX36861;CBY79733;CBY79752;CBY79771;CBY88727;CBY88755;CBY88774;CCA61663;CCA61682;CCA61701;CCA64028;CCA64149;CCA64168;CCA65378;CCA65409;CCD32738;EAX08158;EAX08159;EAX08160;NP_001035;Q01959 Hs.406 1744145;5120059 GDB:194281;GDB:392133 DAT;DAT1;PKDYS DA transporter;OTTHUMP00000161635;dopamine transporter 1;sodium-dependent dopamine transporter;solute carrier family 6 (neurotransmitter transporter, dopamine), member 3;solute carrier family 6 member 3;solute carrier family 6, member 3 APPROVED protein-coding ENSG00000142319 HGNC:11049 00543 126455;143465;188890;613135 REVIEWED 732096 SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 ENCODES a protein that exhibits glycine transmembrane transporter activity (inferred); glycine:sodium symporter activity (inferred); neurotransmitter:sodium symporter activity (inferred); INVOLVED IN amino acid transmembrane transport (inferred); glycine transport (inferred); neurotransmitter transport (inferred); FOUND IN integral component of plasma membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene; diazinon 1 1 1 p33 42745693 42780672 - 44462155 44497171 - 43996483 44031492 - 1580863;6480464 10606742;10625616;10722844;11159884;11360303;12091465;15146197;16121932;16344560;16604304;16841561;17582620;18411704;18638388;19086053;19427831;19556729;19650813;21139048;21628872;21688322;21906983;21963094;21987572;22425803;22705056;23000965;23132267;7587377;7595479;7721869;8183239;8494645 6536 B7Z3A9;B7Z3W8;B7Z589;B7Z9G8;E9PJ65;E9PLM5;J3KPA5;P48067 ABBA01050934;AI884725;AK296438;AK298611;AK304057;AK311136;AK315233;AK315933;AL139220;AMYH02000912;AMYH02000913;CH471059;CN354684;CR749669;DA403430;NM_001024845;NM_001261380;NM_006934;NM_201649;NR_048548;NR_048549;S70609;S70612;XM_006710840 AAB30784;AAB30785;AAI56980;BAH12354;BAH12825;BAH14101;BAH14304;EAX07054;EAX07055;EAX07056;EAX07057;NP_001020016;NP_001248309;NP_008865;NP_964012;P48067;XP_006710903 Hs.442590 1337080;1669277;2186842 D1S2733;RH70220;RH78692 DKFZp547A1118;GLYT1;glyT-1 OTTHUMP00000010004;OTTHUMP00000010005;OTTHUMP00000010006;OTTHUMP00000231267;OTTHUMP00000231268;OTTHUMP00000231269;glycine transporter 1;sodium- and chloride-dependent glycine transporter 1;solute carrier family 6 member 9 protein-coding ENSG00000196517 HGNC:11056 03010 601019 VALIDATED 68562 SLC7A2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 8 8 8 p22 16320372 16393730 + 17354597 17428077 + 17497088 17570568 + 1580863;6480464;8554872 10756096;11665818;12477932;12787129;15064952;15489334;16344560;18029348;18172665;18195088;20424473;20430034;20600019;20972266;21139048;21906983;21963094;21987572;22053931;22787143;22870827;24019517;8954799;9040790;9174363 6542 P52569 AA724796;AB020863;ABBA01021583;ABBA01021584;AI275549;AI458117;AK314287;AL512749;AL832016;AMYH02017535;AP006248;AU077312;BC069648;BC104905;BC113661;BC143583;CB216457;CH471080;D29990;D78212;DB237902;NG_030355;NM_001008539;NM_001164771;NM_003046;U76368;U76369;XM_005273609;XM_005273610;XM_005273611;XM_005273612;XM_006716389 AAB62810;AAB62811;AAH69648;AAI04906;AAI13662;AAI43584;BAA06271;CAD89909;EAW63812;EAW63813;EAW63814;EAW63815;NP_001008539;NP_001158243;NP_003037;P52569;XP_005273666;XP_005273667;XP_005273668;XP_005273669;XP_006716452 Hs.448520 1649721;1651511;1681758;1691288;1699362;1720207;1788420;1794214;1848466;2119419 G31147;PMC310830P24;RH103268;RH124017;RH41931;RH79723;RH80694;SHGC-36559;STS-AA007415;fb93h06.x1 ATRC2;CAT-2;CAT2;HCAT2 solute carrier family 7, member 3;OTTHUMP00000216432;OTTHUMP00000216433;OTTHUMP00000224768;amino acid transporter, cationic 2;cationic amino acid transporter, y+ system;low affinity cationic amino acid transporter 2;low-affinity cationic amino acid transporter-2;solute carrier family 7 member 2 APPROVED protein-coding ENSG00000003989 HGNC:11060 03524 601872 REVIEWED 1342978 SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] X X X q28 153187436 153195732 + 152953752 152962048 + 153688297 153696593 + 1600037;1580863;6480464;7240710;8554872;8699517 11898126 10893433;11063724;11326334;12210795;12219031;12477932;15154114;15338463;15489334;16036218;16049011;16086185;16601897;16738945;17101918;17603797;18350323;18443316;18461508;18515020;19188083;19319661;19570237;19879361;20301334;20301745;20528887;20602486;20717164;20846889;21140503;21190923;21267006;21556832;21906983;21987572;22281021;22644605;23000965;23578822;23644449;24137762;24140398;24144841;24561156;24722188;7622069;7774949;7945388;7953292;8661037;8661155 6535 H7C0F5;H7C1I2;H7C222;H7C249;P48029;Q59EV7;X5D9C4 AB209704;ABBA01045367;AK295495;AK309060;AMYH02040841;AMYH02040842;BC012355;BC081558;BE207407;CA424985;CH471172;CX788315;EU280316;KC800563;KJ534942;KJ534943;KJ534944;KJ534945;L31409;NG_012016;NM_001142805;NM_001142806;NM_005629;S74039;U17986;U36341;U52111;Z66539 AAA79507;AAA86990;AAB32284;AAC41688;AAH12355;AAH81558;ABM83232;ABM86431;ABZ82022;AHI18576;AHW56582;AHW56583;AHW56584;AHW56585;BAD92941;BAG58415;CAA91442;EAW72827;EAW72830;EAW72832;NP_001136277;NP_001136278;NP_005620;P48029 Hs.540696 1846913;5022110;5117322;5125062 D16S3203;GDB:511269;RH18202;RH71204 CCDS1;CRT;CRTR;CT1;CTR5;MGC87396 OTTHUMP00000025945;OTTHUMP00000025946;creatine transporter 1;creatine transporter SLC6A8;creatine transporter SLC6A8 variant D;sodium- and chloride-dependent creatine transporter 1;solute carrier family 6 (neurotransmitter transporter, creatine), member 8;solute carrier family 6 member 8 APPROVED protein-coding ENSG00000130821 HGNC:11055 02073 300036;300352 REVIEWED 1354186 SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5 ENCODES a protein that exhibits amino acid transmembrane transporter activity (ortholog); peptide antigen binding (ortholog); INVOLVED IN neutral amino acid transport (ortholog); FOUND IN extracellular vesicular exosome; membrane; nucleolus; INTERACTS WITH (S)-nicotine; 1-chloro-2,4-dinitrobenzene; 17alpha-ethynylestradiol 16 16 16 q24.3 72160934 72200417 - 87863629 87903100 - 87830023 87869494 - 1580863;6480464 10049700;10072483;10568788;10629848;11095508;11311135;11535130;11557028;12009310;12117417;12225859;12477932;12824232;12925876;15178563;15200428;15302935;15489334;15589117;15769744;15900591;15901826;1597461;16097034;16175382;16196087;16496379;17558306;17622555;18095110;18195088;18253116;18262359;18294274;18382329;18440724;18781797;18813831;19018776;19068093;19121087;19171406;19184136;19322201;19347882;19430419;19559497;19635099;19777189;19946888;20091333;20374249;20375792;20510678;20601542;20680301;20972266;21055621;21139048;21371427;21439283;21486766;21501294;21530999;21798283;21890473;21906983;21963094;21987572;22007000;22053931;22077314;22110199;22199264;22505724;22736142;22813728;22939629;23000965;23103253;23221699;23270998;23438482;23516127;23696029;23809372;23824658;23912240;24131658;24168110;24639526;24816145;25027693;7561057;7829099;8922468;9403839;9751058;9829974;9878049 8140 Q01650 AB017908;AB018009;AB018542;AB023721;ABBA01006922;AC126696;AF077866;AF104032;AM182888;AMYH02032626;AMYH02032627;BC014177;BC039692;BC042600;BC114608;CH471114;M80244;NM_003486;XM_006721286;XM_006721287 AAA35780;AAC61479;AAD20464;AAH39692;AAH42600;ABM84264;ABM87765;BAA33851;BAA75746;BAA84648;BAB70708;CAJ58680;EAW95373;EAW95374;EAW95375;NP_003477;Q01650;XP_006721349;XP_006721350 Hs.513797 1336048;1645803;1648447;1726277;1731659;1762353;1766655;1783394;1796842;2173960 2084;D16S413;D16S469E;G62517;RH47455;RH69181;SHGC-146188;SHGC-149947;SHGC-154007;SLC7A5_851 4F2 LC;4F2LC;CD98;D16S469E;E16;LAT1;MPE16;hLAT1 4F2 light chain;CD98 light chain;L-type amino acid transporter 1;OTTHUMP00000175013;integral membrane protein E16;large neutral amino acids transporter 1;large neutral amino acids transporter small subunit 1;sodium-independent neutral amino acid transporter LAT1;solute carrier family 7 (cationic amino acid transporter, y+ system), member 5;solute carrier family 7 member 5;y+ system cationic amino acid transporter APPROVED protein-coding ENSG00000103257 HGNC:11063 02552 600182 VALIDATED 1603607 SLC7A5P1 solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 1 This locus represents a transcribed pseudogene of the L-type amino acid transporter 1. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 73170970 73171584 + 29624424 29625038 - 29613103 29613717 - 6480464 10493829;12009310;12477932;14702039;15146197 81893 Q8MH63 AC009086;AC243806;BI522879;BM923058;CN275837;NR_002593 Hs.677169 DC49;LAT1-3TM;MLAS;hLAT1-3TM LAT1-3TM protein 1 APPROVED pseudo ENSG00000260727 HGNC:29458 13964 VALIDATED 1601796 SLC7A5P2 solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 2 ENCODES a protein that exhibits amino acid transmembrane transporter activity (inferred); INVOLVED IN amino acid transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; bisphenol A; dioxygen 16 16 16 p12.2 73170970 73173529 + 21529214 21531765 - 21517893 21520444 - 6480464 12009310;12477932;21906983 387254 Q9GIP4 AC005632;AC241400;BC071656;BI758996;BM904244;NR_002594 Q9GIP4 Hs.448808;Hs.664952 5014051;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;L18426 IMAA;MMAA APPROVED pseudo HGNC:24951 13738 PROVISIONAL 1602091 SLC7A6OS solute carrier family 7, member 6 opposite strand INVOLVED IN hematopoietic progenitor cell differentiation (inferred); protein transport (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; cyclosporin A; methyl methanesulfonate 16 16 16 q22.1 52843026 52853373 - 68318043 68344868 - 68300615 68310965 - 6480464 12477932;14702039;16344560;20510023;21906983;8125298 84138 I3L4S1;J3KSD3;Q96CW6 ABBA01025484;AC020978;AK023353;AK091674;AK225712;AMYH02032249;AY078070;BC013778;CH471092;DB145613;NM_032178 AAH13778;AAL79958;BAB14538;EAW83222;EAW83223;NP_115554;Q96CW6 Hs.729520 1682141;1736540;1769371;2145578;2161515;2175211;2175213;2218018 A005R27;D16S2540E;G20443;RH64998;RH70445;SHGC-33727;SHGC-60827;SLC7A6_3922 FLJ13291 ADAMS proteinase-related protein;OTTHUMP00000174865;probable RNA polymerase II nuclear localization protein SLC7A6OS;solute carrier family 7 member 6 opposite strand transcript protein-coding HGNC:25807 07824 VALIDATED 733448 SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] 14 14 14 q11.2 3105324 3151896 - 23242431 23289020 - 22773222 22819811 - 1624296;1580863;6480464;7240710;8554872;8699517 10080182 10080183;10631139;10655553;10737982;12402335;12477932;12589791;15489334;15756301;15776427;15901826;16344560;17196863;17530437;17666782;17764084;18195088;18716612;19664597;20301535;20379614;21586674;22325938;23408368;23940088;23975734;9199570;9829974;9878049 9056 D6RFE5;G3V273;G3V2H8;G3V2K0;G3V2L0;G3V362;G3V4U1;G3V4Z6;G3V5A1;G3V5W2;H0YJ95;Q9UM01 AB011263;AB020532;AB031537;AB209591;ABBA01061283;ABBA01061284;ABBA01061285;AF092032;AJ130718;AK025377;AK301219;AK309128;AK314351;AL135998;AL365450;AL365451;AL365452;AMYH02028847;AMYH02028848;BC003062;BC010107;BX161519;BX248291;CH471078;DA044956;DA638578;DA950997;DA991442;DB170842;NG_012851;NM_001126105;NM_001126106;NR_040448;XM_006720302;Y18474 AAC83706;AAH03062;AAH10107;ABM82761;ABM85947;BAA87623;BAA95120;BAB11849;BAD92828;BAG36987;BAG62792;CAA10198;CAB40136;CAD61952;CAD62619;EAW66245;EAW66246;EAW66247;EAW66248;NP_001119577;NP_001119578;Q9UM01;XP_006720365 Hs.513147;Hs.732349 1669705;2124509;2125894;2126869;2136517;2160008;2218020 G35496;G35515;G35664;G35783;G35854;G36098;SLC7A7_3921 LAT3;LPI;MOP-2;Y+LAT1;y+LAT-1 OTTHUMP00000027913;OTTHUMP00000164491;OTTHUMP00000164492;OTTHUMP00000164493;OTTHUMP00000164494;OTTHUMP00000245928;OTTHUMP00000245955;Y+L amino acid transporter 1;monocyte amino acid permease 2;solute carrier family 7 (cationic amino acid transporter, y+ system), member 7;solute carrier family 7 member 7;y(+)L-type amino acid transporter 1 APPROVED protein-coding ENSG00000155465 HGNC:11065 04667 222700;603593 REVIEWED 1345085 SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8 ENCODES a protein that exhibits amino acid transmembrane transporter activity; organic cation transmembrane transporter activity; toxin transporter activity; INVOLVED IN amino acid transport; organic cation transport; toxin transport; FOUND IN extracellular vesicular exosome; plasma membrane; INTERACTS WITH 17beta-estradiol; arsenite(3-); arsenous acid 14 14 14 q11.2 3457210 3515570 - 23594504 23652869 - 23125295 23183660 - 1580863;6480464 10080183;10391915;10574970;10610726;11311135;12117417;12477932;12716892;14702039;15489334;15769744;15901826;15918515;17558306;18195088;19851296;19913121;20198315;20379614;20628086;21486766;21906983;8125298 23428 E9PIC3;E9PLV9;E9PQT4;E9PS92;H0Y2X7;Q53EM9;Q9UHI5 AB037669;ABBA01061308;ABBA01061309;ABBA01061310;ABBA01061311;AF087908;AF087911;AF135828;AF135829;AF135830;AF171669;AK094550;AK223610;AK296702;AK300384;AK307609;AK313465;AL117258;AL365342;AL365343;AL365344;AL365345;AL365346;AL365347;AL365414;AMYH02028865;BC036825;BC052250;BX248288;CH471078;DC348596;NM_001267036;NM_001267037;NM_012244;NM_182728;NR_049767;Y18483 AAF05695;AAF05696;AAF05697;AAF20381;AAH36825;AAH52250;AAP97206;AAP97208;BAB21519;BAD97330;BAG36251;BAG52886;BAG59296;BAG62118;CAB40137;CAD62616;EAW66181;EAW66182;NP_001253965;NP_001253966;NP_036376;NP_877392;Q9UHI5 Hs.596643 1668585;1690404;1760553;2107615;2117503;2141401;2172517 D14S1252;D14S936;RH68931;RH69320;RH99158;SHGC-143965;SLC7A8_7269 LAT2;LPI-PC1;hLAT2 L-type amino acid transporter 2;OTTHUMP00000164556;OTTHUMP00000164557;OTTHUMP00000228619;integral membrane protein E16H;large neutral amino acids transporter small subunit 2;solute carrier family 7 (amino acid transporter, L-type), member 8;solute carrier family 7 (cationic amino acid transporter, y+ system), member 8;solute carrier family 7 member 8 APPROVED protein-coding ENSG00000092068 HGNC:11066 11971 604235 VALIDATED 1319397 SLC7A6 solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 ENCODES a protein that exhibits amino acid transmembrane transporter activity (inferred); antiporter activity (inferred); INVOLVED IN amino acid transmembrane transport (inferred); amino acid transport (inferred); blood coagulation (inferred); FOUND IN integral component of membrane (inferred); integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene diol epoxide I 16 16 16 q22.1 52806916 52844230 + 68298419 68335726 + 68264516 68301823 + 1580863;6480464 10903140;12477932;15342556;15901826;16344560;18195088;19443642;21886157;22007000;23221699;24052624;9039502;9829974;9878049 9057 E7EPZ8;H3BNF5;H3BPK5;H3BPV6;H3BRZ8;H3BSB6;H3BSV7;H3BUA4;H3BUR2;J3QL60;Q92536 ABBA01025483;ABBA01025484;AC020978;AK310602;AK310866;AK311610;AMYH02032249;BC028216;BC113100;BP242589;CH471092;CR749291;CR749475;D87432;DB107640;NM_001076785;NM_003983;R48943;XR_243433;XR_429735;XR_429736;XR_429737;XR_429738;XR_429739 AAH28216;AAI13101;ABM81949;ABM85129;BAA13376;CAH18146;CAH18305;EAW83219;EAW83220;NP_001070253;NP_003974;Q92536 Hs.679580 1682141;1736540;1769371;2145578;2161515;2175211;2175213;2218018 A005R27;D16S2540E;G20443;RH64998;RH70445;SHGC-33727;SHGC-60827;SLC7A6_3922 DKFZp686K15246;KIAA0245;LAT-2;LAT3;y+LAT-2;y+LAT2 Y+L amino acid transporter 2;amino acid permease;cationic amino acid transporter, y+ system;solute carrier family 7 (cationic amino acid transporter, y+ system), member 6;solute carrier family 7 member 6;y(+)L-type amino acid transporter 2 APPROVED protein-coding ENSG00000103064 HGNC:11064 12031 605641 VALIDATED 733970 SLC7A3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010] X X X q13.1 70499018 70504564 - 70145429 70150975 - 70925579 70931125 - 6480464 11591158;12477932;14702039;15489334;15737334;16303743;16332251;18029348;18195088;22870827 84889 Q8WY07 ABBA01067634;AF320612;AK027447;AK074865;AK075014;AL627071;AMYH02039667;BC033816;CH471132;CQ783812;NG_021370;NM_001048164;NM_032803 AAH33816;AAL37184;ABM81811;ABM84965;BAB55118;BAC11253;BAC11353;CAF86874;EAX05329;EAX05330;NP_001041629;NP_116192;Q8WY07 Hs.175220 1699186;1787326;2110749;2118675 RH103173;RH67945;SHGC-154064;SLC7A3_8116 ATRC3;CAT-3;CAT3;FLJ14541;MGC20687 OTTHUMP00000023478;OTTHUMP00000023479;cationic amino acid transporter 3;solute carrier family 7, member 3 APPROVED protein-coding ENSG00000165349 HGNC:11061 02343 300443 REVIEWED 1319531 SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death. [provided by RefSeq, Sep 2011] 4 4 4 q28-q32 136424509 136502906 - 139085248 139163572 - 138164094 138242418 - 1580863;6480464;8554872 10206947;11133847;11213471;11302733;11406111;11417227;12235164;12477932;12763038;14722095;15151999;15326101;15489334;15901826;16574866;17081983;17575980;18054200;18195088;18287333;18469825;18648370;18978678;19015640;19017641;19207949;20007406;20053169;20634891;20733204;20849923;21139048;21369940;21510944;21555518;21639880;21689549;21890473;21906983;21963094;21987572;23000965;23096413;23741361;23898208;24094812;24686172;25015289 23657 H0Y9F9;Q9UPY5 AB026891;AB040875;AB042201;ABBA01044913;ABBA01044914;ABBA01044915;AC093903;AC110804;AC116610;AF200708;AF252872;AJ277882;AK290359;AK314855;AMYH02010178;AMYH02010179;AMYH02010180;BC012087;BC041925;CD639041;CH471056;NM_014331;XM_005262875 AAG35592;AAH12087;AAK49111;AAY41053;ADZ15927;BAA82628;BAA94999;BAB40574;BAF83048;BAG37372;CAC81905;EAX05135;NP_055146;Q9UPY5;XP_005262932 Hs.390594 1724243;1848476;1857679;2162733;2166779;5015961;5022200;5024761;5037552 D15S1477;D4S265;D4S3103;D8S2279;L18426;RH121262;RH36112;RH36905;SHGC-51593 CCBR1;xCT OTTHUMP00000164578;amino acid transport system xc-;calcium channel blocker resistance protein CCBR1;cystine/glutamate transporter;solute carrier family 7 member 11;solute carrier family 7, (cationic amino acid transporter, y+ system) member 11 APPROVED protein-coding ENSG00000151012 HGNC:11059 09720 607933 VALIDATED 6767272 SLC8A1-AS1 SLC8A1 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 2 2 2 p22.1 39985722 40323758 + 40144774 40482349 + 39917634 40255209 + 8554872 12477932;22628157 100128590 ABBA01075039;AC007253;AC007254;AC007377;AMYH02003647;AMYH02003648;AMYH02003649;BC043380;HG493907;HG493911;HG493913;KF459834;KF459835;KF459836;KF459837;KF459838;KF459839;KF459840;KF459841;KF459843;KF459846;KF495666;KF495765;NR_038441 Hs.744988 1339849;1656148;1681981;1716481;1716781;1730317;1739035;1739037;1854329;2114402;2129666;2167299;2175973;7186566 Cda11b02;D2S1886;D2S1887;D2S193E;D2S2238;D2S2658;D2S2749;G10124;RH121526;RH121685;RH91099;SHGC-61992;WI-16830 AC007254.3 APPROVED ncrna ENSG00000227028 HGNC:44102 VALIDATED 1349643 SLC8B1 solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008] 12 12 12 q24.13 113363396 113399748 - 113736571 113772934 - 113298766 113335142 - 6480464;7204696;8554872 22850819 12477932;14625281;14702039;15060069;15489334;21890473;21906983;23506867;23538132;24898248;8889548 80024 B3KSP6;F8VR99;F8VTU4;F8VW44;F8VWW9;F8W134;H0YI75;Q6J4K2 ABBA01019953;AC010178;AK025886;AK056179;AK094074;AK095092;AK124000;AK293216;AMYH02027239;AMYH02027240;AX537505;AX537507;AY601759;AY601760;BC020463;BC032397;BC033070;BC098360;BC098430;BM560555;BM980568;CA309108;CH471054;CQ859750;NM_024959;XM_006719607;XM_006719608 AAH98360;AAT35807;AAT35808;BAB15271;BAG52808;BAG56755;CAD57494;CAD57495;CAH25925;EAW98048;EAW98049;EAW98050;EAW98051;NP_079235;Q6J4K2;XP_006719670;XP_006719671 Hs.286194 1650317;1677126;1730419;1775070;2141153;5015861;5037552;5126487;7185938 A004Q10;D10S16;D12S1195E;D12S1396E;D12S1973;D8S2279;RH79706;WI-18647 FLJ22233;NCKX6;NCLX;SLC24A6 Na(+)/K(+)/Ca(2+)-exchange protein 6;OTTHUMP00000241554;OTTHUMP00000241555;OTTHUMP00000241556;sodium/calcium exchanger protein, mitochondrial;sodium/potassium/calcium exchanger 6;sodium/potassium/calcium exchanger 6, mitochondrial;solute carrier family 24 (sodium/lithium/calcium exchanger), member 6;solute carrier family 24 (sodium/potassium/calcium exchanger), member 6;solute carrier family 24 member 6;solute carrier family 8 member B1 APPROVED protein-coding ENSG00000089060 HGNC:26175 15354 609841 VALIDATED 731774 SLC8A2 solute carrier family 8 (sodium/calcium exchanger), member 2 ENCODES a protein that exhibits calcium:sodium antiporter activity (inferred); calmodulin binding (inferred); INVOLVED IN blood coagulation (inferred); calcium ion transport (inferred); cell communication (inferred); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH Brain Ischemia (ortholog); Reperfusion Injury (ortholog); Status Epilepticus (ortholog); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 19 19 19 q13.3 44737047 44781071 - 47931274 47975307 - 47428017 47472050 - 730182;1580863;2316975;2316979;2316980;6480464;7204698;8554872 15461673;16107787;17716241;18037393;8021246 10470851;15557343;16679322;19913121;20132488;20628086;21382638;21858195;23224884;23224887;23224890 6543 F5H6L7;M0R1Z4;M0R211;Q9UPR5 AB029010;ABBA01041035;ABBA01041036;ABBA01041037;ABBA01041038;ABBA01041039;ABBA01041040;AC073548;AK293457;AK293836;AK293860;AK302552;AL512764;AMYH02036261;CH471126;DC401065;NM_015063;XM_005259172 AAI67838;BAA83039;BAG56952;BAG57237;BAG57255;BAG63821;CAC21681;EAW57484;EAW57485;EAW57486;NP_055878;Q9UPR5;XP_005259229 Hs.172884 1339316;1650671;1666014;2151491;2218022 D19S596;RH66264;SLC8A2_3864;WI-13762;WI-19404 NCX2 Na(+)/Ca(2+)-exchange protein 2;Na+/Ca2+-exchanging protein Nac2;sodium-calcium exchanger 2;sodium/calcium exchanger 2;solute carrier family 8 (sodium-calcium exchanger), member 2;solute carrier family 8 member 2 protein-coding ENSG00000118160 HGNC:11069 15990 601901 VALIDATED 732932 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 25385103 25424627 - 28521337 28562986 - 30194319 30235968 - 1580639;1358567;1624295;1580863;4889460;4889466;4889442;4889509;4889434;4889462;4889426;4889435;4889437;4889474;4889430;4889438;4889445;4889516;4889432;4889440;4889463;4889441;6480660;6480658;6480464;7240710;8554872 10381332;11259539;14593431;15749247;15867649;16215942;16339917;16380550;16399993;17307423;17711618;18074800;18295409;19014073;19473340;19556740;19736308;19806585;19886858;20447560;20838391;20981038;22014438 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32;23953022;23969989;23989888;24014145;24015179;24035489;24057178;24064711;24069428;24075737;24089041;24093801;24098925;24105442;24107951;24138674;24140930;24192273;24192574;24222274;24229495;24229544;24260145;24278217;24280015;24280759;24293367;24342768;24346757;24385047;24394416;24411530;24446536;24512255;24558768;24590108;24637816;24680725;25204099;7681602;7684072;7789954;7865169;8452685;8602004;8632190;8788073;8987735;9326263 6532 AAB26687;B2R7Y7;J3KPR9;J3QKP3;P31645 AA700070;ABBA01015002;ABBA01015003;ABBA01015004;AC104984;AF233399;AK308014;AK309538;AK313166;AMYH02033270;AU138385;AY902473;BC069484;BE645279;BQ017027;BX399758;CH471159;CS008504;DC345903;EU099989;L05568;NG_011747;NM_001045;U79746;X70697;X76753;X76754;X76755;X76756;X76757;X76758;X76759;X76760;X76761;X76762 AAA35492;AAB26687;AAB93475;AAF61945;AAH69484;AAW80933;ABV02581;BAG35984;CAA50029;CAI53631;EAW51223;NP_001036;P31645 Hs.134662;Hs.29792 1650550;1683795;1743139;1793332;1793668;2114102;2116801;2173210;5016851 A004R12;GDB:271277;PMC209526P1;PMC24806P1;RH70057;RH70982;RH80031;SHGC-11022;SLC6A4 5-HTT;5-HTTLPR;5HTT;HTT;OCD1;SERT;SERT1;hSERT 5-hydroxytryptamine (serotonin) transporter;5-hydroxytryptamine transporter;5HT transporter;Na+/Cl- dependent serotonin transporter;OTTHUMP00000163632;OTTHUMP00000163633;serotonin transporter 1;sodium-dependent serotonin transporter;solute carrier family 6 (neurotransmitter transporter, serotonin), member 4;solute carrier family 6 member 4;solute carrier family 6, member 4 APPROVED protein-coding ENSG00000108576 HGNC:11050 01640 164230;182138;607834 REVIEWED 1314214 SLC7A4 solute carrier family 7, member 4 ENCODES a protein that exhibits amino acid transmembrane transporter activity (inferred); basic amino acid transmembrane transporter activity (inferred); INVOLVED IN amino acid transmembrane transport (inferred); basic amino acid transport (inferred); cellular amino acid metabolic process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,2',5,5'-tetrachlorobiphenyl; cadmium dichloride 22 22 22 q11.21 4874309 4878149 - 21382995 21387163 - 21028718 21032874 - 1580863;6480464 10700465;11665818;12049641;12477932;15461802;15489334;17051526;18460403;20452607;20584552;20685009;9598310;9754584 6545 C9JM63;O43246 ABBA01015432;AC002472;AJ000730;AJ009516;AMYH02038086;BC008814;BC062565;BC107160;BC107161;CH471176;CR456580;NM_004173;XM_005261716;XM_005261717;XM_006724309 AAH08814;AAH62565;AAI07161;AAI07162;ABM83599;ABM86826;CAA04263;CAA08723;CAG30466;CAK54608;CAK54907;EAX02909;NP_004164;O43246;XP_005261773;XP_005261774;XP_006724372 Hs.197116 2125108;2218608 D22S1239;SLC7A4__3865 CAT-4;CAT4;HCAT3;MGC129976;MGC129977;VH Ig heavy chain variable region;OTTHUMP00000198675;OTTHUMP00000198676;VH 3 family;cationic amino acid transporter 4;solute carrier family 7 (cationic amino acid transporter, y+ system), member 4;solute carrier family 7 (orphan transporter), member 4;solute carrier family 7 member 4 APPROVED protein-coding ENSG00000099960 HGNC:11062 04780 603752 VALIDATED 731021 SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] 2 2 2 p22.1 40180223 40580364 - 40339286 40739575 - 40112146 40512476 - 727449;1580732;1580863;1642711;1598724;1580586;1642714;1642717;1642720;1642725;1642713;1642716;1642729;2316975;2316980;6480464;6771236;6907045;7204698;8554872 10944172;12377375;15461673;15615841;15785003;15824464;16343576;17192285;17267548;17446477;17536604;17662498;17716241;17822695;18037393;22036625 10536662;11241183;11350050;11821059;11916852;12031969;12477932;12502539;1374913;14593108;14702039;14736881;1476165;14981087;15033764;15475962;15557343;1559714;15703175;16292983;16314582;16399865;1647256;16679322;16921169;17178715;17541957;17846126;17912271;18635667;18660489;18996841;19095005;19481548;19541636;19830548;20018762;20109173;20173311;20379614;20424473;21126331;21321244;21382638;21613675;21790537;21833492;21858195;21873429;21930298;22270364;22456474;22479505;22628157;22726844;22842068;23069678;23192947;23224869;23224872;23224875;23224883;23224887;23224890;23224891;23224892;23251661;23376057;23563609;23913256;24324551;24623842;8485996;8790037;8921376;9516469;9847074 6546 E7EV41;E9PB98;E9PCL8;P32418;Q4QQH3 AB209075;ABBA01075039;ABBA01075040;ABBA01075041;AC007254;AC007281;AC007377;AC007877;AC093586;AC106048;AF108388;AF108389;AF115505;AF128524;AK095013;AK125406;AK291696;AMYH02003648;AMYH02003649;AMYH02003650;AMYH02003651;BC098285;BC098308;BC098345;BX537482;BX648299;CH471053;KF459834;KF459835;KF459836;KF459837;KF459838;KF459839;KF459840;KF459841;KF459843;KF459846;KF495666;KF495765;M91368;M96368;NM_001112800;NM_001112801;NM_001112802;NM_001252624;NM_021097;X91213;X91221;X91815;XM_005264512;XM_005264513;XM_005264514;XM_006712080;XM_006712081;XM_006712082;XM_006712083;XM_006712084;XM_006712085;XM_006712086;Y12878;Y12885;Y13032;Y13033 AAA35702;AAD17213;AAD26362;AAF08987;AAF08988;AAF19235;AAF19237;AAH98285;AAH98308;AAI56360;AAI72488;AAX81985;BAD92312;BAF84385;CAA62923;CAA73378;CAA73386;CAA73477;CAA73478;CAD97765;EAX00331;EAX00332;EAX00333;EAX00334;EAX00335;EAX00336;NP_001106271;NP_001106272;NP_001106273;NP_001239553;NP_066920;P32418;XP_005264569;XP_005264570;XP_005264571;XP_006712143;XP_006712144;XP_006712145;XP_006712146;XP_006712147;XP_006712148;XP_006712149 Hs.31961;Hs.468274;Hs.744988 1338062;1647123;1656148;1707030;1715519;1724595;1753957;1759753;1784264;1854329;2114064;2129666;2148833;2167299;2175973;2185022;2218610;5109281 AFMB335XC1;Cda11b02;D1S1425;D2S2328;D2S2658;D2S2749;RH121294;RH121523;RH18469;SHGC-151269;SHGC-172311;SHGC-61992;SHGC-81024;SHGC-89339;SLC8A1;SLC8A1__3866;STS-Z40873;WI-16830 DKFZp779F0871;FLJ37694;FLJ43417;MGC119581;NCX1 Na(+)/Ca(2+)-exchange protein 1;Na+/Ca++ exchanger;Na+/Ca2+ exchanger;OTTHUMP00000128378;OTTHUMP00000201546;OTTHUMP00000201569;OTTHUMP00000201570;OTTHUMP00000201587;OTTHUMP00000201589;sodium/calcium exchanger 1;solute carrier family 8 member 1 APPROVED protein-coding HGNC:11068 01659 182305 VALIDATED 1351479 SLC9A3P1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 1 10 10 q11.23 51910338 51912326 + 50150578 50152566 + 8199403;8833252 6551 ABBA01052473;AL450382;AL954360;AMYH02022882;NG_006095 NHE3P;SLC9A3P;SLC9A3P4 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 pseudogene APPROVED pseudo HGNC:11074 INFERRED 1351319 SLC9A3P2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 2 22 22 22 q11.21 4498069 4499962 + 21007121 21009014 + 20652834 20654727 + 128997 ABBA01015450;AC007050;AMYH02038078;NG_005203 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 pseudogene 2 APPROVED pseudo HGNC:19325 INFERRED 730959 SLC9A2 solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 ENCODES a protein that exhibits sodium:proton antiporter activity (inferred); INVOLVED IN hydrogen ion transmembrane transport (inferred); ion transport (inferred); protein localization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; cocaine 2 2 2 q11.2 97437331 97528969 + 103236166 103327809 + 102619707 102711350 + 1580863;6480464;8554872 10187839;10444453;10579058;11254504;11350981;11408268;12477932;12576672;1318024;15664417;15815621;16982955;17561809;17881426;17943310;19056765;19389806;19479940;20379614;21890473;22052014;7683411;8595899;8843774;8901634;9847074 6549 O00618;Q9UBY0 AA843986;ABBA01073895;AC007239;AF073299;AK129936;AMYH02004439;AMYH02004440;AMYH02004441;BC035787;BC136377;BC136378;CH471127;NM_003048;S83549 AAB50820;AAD41635;AAF19248;AAI36378;AAI36379;EAX01788;EAX01789;NP_003039;Q9UBY0 Hs.250083 NHE-2;NHE2 Na(+)/H(+) exchanger 2;OTTHUMP00000161338;sodium/hydrogen exchanger 2;solute carrier family 9 (sodium/hydrogen exchanger), isoform 2;solute carrier family 9 (sodium/hydrogen exchanger), member 2;solute carrier family 9 member 2 APPROVED protein-coding ENSG00000115616 HGNC:11072 02756 600530 VALIDATED 732656 SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013] 14 14 14 q24.1 50575050 50719920 - 70510934 70655787 - 70044217 70189070 - 730187;1580863;2316975;2316979;2316980;2316976;6480464;7204698;8554872 15461673;16107787;16914199;17716241;18037393;8798769 10390518;12406570;12477932;12502570;12558991;14702039;14722618;15247490;15557343;15777725;16306395;16344560;16679322;20379614;21382638;21602797;21790537;21858195;21959935;22969067;23224883;23224884;23224887;23224890;23224891;23382691;8921376;9195292 6547 B3KU59;F2Z391;P57103 ABBA01030819;ABBA01030820;ABBA01030821;ABBA01030822;ABBA01030823;ABBA01030824;AF508982;AF510501;AF510502;AF510503;AJ304852;AJ304853;AJ508602;AJ745101;AJ745102;AK096553;AK122728;AL135747;AL160191;AMYH02029441;AMYH02029442;BC023215;BC036783;BC114217;BC142969;BC150183;BC150193;BI551720;BI906774;BX098112;BX248763;CH471061;DA351808;NM_001130417;NM_033262;NM_058240;NM_182932;NM_182936;NM_183002;NR_104122;X93017;XM_005268017;XM_005268018;XM_006720239;XM_006720240 AAI42970;AAI50184;AAI50194;AAI60014;AAM90955;AAN60790;AAN60791;AAN60792;BAG53321;BAG53692;CAC40984;CAC40985;CAD48420;CAD66570;CAG33739;CAG33740;EAW81018;EAW81019;EAW81020;EAW81021;EAW81022;EAW81023;EAW81024;EAW81025;EAW81026;NP_001123889;NP_150287;NP_489479;NP_891977;NP_891981;NP_892114;P57103;XP_005268074;XP_005268075;XP_006720302;XP_006720303 Hs.337696 1335233;1337718;1653227;1721129;1722607;1724547;1757609;1761393;1761425;1761499;1761531;1761547;1770366;1789186;1951158;2128937;2136743;2137812;2159614;2218024;5491862;7185267 D14S1116;D14S258;D14S603;D14S681E;D14S776;G59549;G60387;G65592;REN46433;RH122533;RH44806;RH78238;SHGC-145103;SHGC-145406;SHGC-145433;SHGC-145504;SHGC-145531;SHGC-145542;SLC8A3;SLC8A3_3867;WI-14913 NCX3 Na(+)/Ca(2+)-exchange protein 3;Na+/Ca2+ exchanger 3;OTTHUMP00000179116;OTTHUMP00000233725;OTTHUMP00000233727;OTTHUMP00000233728;OTTHUMP00000233729;OTTHUMP00000233730;OTTHUMP00000233731;sodium/calcium exchanger 3;sodium/calcium exchanger SLC8A3;solute carrier family 8 (sodium-calcium exchanger), member 3;solute carrier family 8 member 3 APPROVED protein-coding ENSG00000100678 HGNC:11070 09723 607991 REVIEWED 734403 SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011] 19 19 19 q13.1 30015026 30054305 - 33321417 33360683 - 32830511 32869777 - 737767;1580863;6480464;7240710;8554872;8699517 10471498 10588648;10799513;11157794;11318953;12167606;12234283;12239244;12371955;12477932;12779097;12820697;14531788;14991253;15342556;15489334;15499206;15635077;15818799;15818803;15901826;16138908;16609684;16801163;16838140;17701443;17710781;18195088;18752446;18778962;19115949;19322909;19782624;20383145;20383146;20424473;21145461;21255007;21572414;21912425;21988832;22197932;24045899;8125298;8889548;9042921;9042922 11136 K7EKD0;P82251 AB033548;ABBA01039603;ABBA01039604;AC008805;AF141289;AF421181;AJ249199;AK026446;AK223147;AK313708;AL365340;AL365341;AMYH02035927;AMYH02035928;AMYH02035929;AY170373;BC017962;BC029802;BP276659;CK300669;NG_008258;NM_001126335;NM_001243036;NM_014270;XM_005258468;XM_006722992 AAD55898;AAH17962;AAN40878;ABM82932;ABM86121;BAB16840;BAD96867;BAG36453;CAB54003;NP_001119807;NP_001229965;NP_055085;P82251;XP_005258525;XP_006723055 Hs.743345 BAT1;CSNU3;FLJ94301 B(0,+)-type amino acid transporter 1;b(0,+)AT;bo,+ amino acid transporter;glycoprotein-associated amino acid transporter b0,+AT1;solute carrier family 7 (cationic amino acid transporter, y+ system), member 9;solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9;solute carrier family 7 member 9 APPROVED protein-coding ENSG00000021488 HGNC:11067 04997 220100;604144 REVIEWED 1625826 SLC9A3P3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 3 10 10 10 q11.23 45733644 45735419 + 51785152 51786927 - 50025392 50027167 - 728990 ABBA01003656;AL442003;AMYH02023045;NG_006098 APPROVED pseudo HGNC:33492 INFERRED 1625810 SLC9A3P4 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 4 10 q11.22 47965760 47967028 + 389963 AL954360;NG_006096 APPROVED pseudo HGNC:33493 INFERRED 730978 SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 ENCODES a protein that exhibits PDZ domain binding (ortholog); sodium:proton antiporter activity (ortholog); INVOLVED IN sodium ion transmembrane transport (ortholog); PARTICIPATES IN endothelin signaling pathway; bile acid transport pathway; ASSOCIATED WITH Diabetes Mellitus, Experimental (ortholog); Hypertension (ortholog); Obesity (ortholog); FOUND IN extracellular vesicular exosome; plasma membrane; brush border (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene diol epoxide I; dexamethasone 5 5 5 p15.3 570966 620781 - 473298 524549 - 473219 524434 - 727424;1580740;1625672;1625673;1580863;727447;6480464;6484113;6907045 12218313;12372791;15201541;16244498;16757903 10364184;10452823;10506918;11408268;11841999;12167607;12397398;12477932;12542207;12576672;12665801;12763917;12799307;14531806;14580213;15070904;15197272;15342556;15489334;15531580;15754324;1577762;15911629;16159897;16293618;16421216;16464174;16501490;16760259;16971495;17276988;17307723;17540780;17881426;18085326;18433466;18614797;18801914;19056765;19056867;19088451;19303862;19338654;19389806;19460752;19473983;19479940;19535329;19772970;19854014;19913121;19926819;20080968;20424473;20628086;20691413;20967843;21832242;22447429;22466613;23086913;23128233;23324582;23370527;23612977;23769829;23784542;23810111;24250222;24308971;24398676;24657527;24831004;7631746;8096830;8795445;8843774;8901634;9748260 6550 P48764 ABBA01034255;ABBA01034256;AC010442;AC106772;AMYH02010752;AMYH02010753;AMYH02010754;AMYH02010755;BC011555;BC101669;BC101671;BC143328;BP270851;CH471235;KF457845;NM_001284351;NM_004174;S83545;U28043 AAB48990;AAB50819;AAI01670;AAI01672;AAI43329;EAW51006;EAW51007;NP_001271280;NP_004165;P48764 Hs.658120 1648459;1681143;2112202;2174615 D5S2774;RH91398;SHGC-36639;STS-Z39377 MGC126718;MGC126720;NHE-3;NHE3 Na(+)/H(+) exchanger 3;OTTHUMP00000115364;OTTHUMP00000221424;sodium/hydrogen exchanger 3;solute carrier family 9 (sodium/hydrogen exchanger), isoform 3;solute carrier family 9 (sodium/hydrogen exchanger), member 3;solute carrier family 9 member 3 APPROVED protein-coding ENSG00000066230 HGNC:11073 01660 182307 VALIDATED 1606087 SLC9A4 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 ENCODES a protein that exhibits sodium:proton antiporter activity (inferred); INVOLVED IN epithelial cell development (inferred); gastric acid secretion (inferred); hydrogen ion transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); amiloride (ortholog) 2 2 2 q12.1 97290912 97351604 + 103089173 103150433 + 102472713 102533974 + 6480464;8554872 12576672;16344560;17370265;17943310;18311140;21738478;22049213;23999434;8199403 389015 Q6AI14 ABBA01073897;ABBA01073898;ABBA01073899;AC007278;AL833048;AMYH02004437;CH471127;CR627411;DA442134;KF510748;NM_001011552;XM_005263940 AAI60158;CAH10500;CAH10600;EAX01790;NP_001011552;Q6AI14;XP_005263997 Hs.447686 1336851;7185342 D2S373 DKFZp313B031;NHE-4;NHE4 Na(+)/H(+) exchanger 4;OTTHUMP00000203108;sodium/hydrogen exchanger 4;solute carrier family 9 (sodium/hydrogen exchanger), isoform 4;solute carrier family 9 (sodium/hydrogen exchanger), member 4;solute carrier family 9 member 4 APPROVED protein-coding ENSG00000180251 HGNC:11077 15973 600531 VALIDATED 732088 SLC9A5 solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 ENCODES a protein that exhibits sodium:proton antiporter activity (inferred); solute:proton antiporter activity (inferred); INVOLVED IN hydrogen ion transmembrane transport (inferred); ion transport (inferred); regulation of pH (inferred); ASSOCIATED WITH Kidney Failure, Chronic; FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH copper atom; copper(0); copper(2+) sulfate 16 16 16 q22.1 51791089 51814319 + 67282855 67306094 + 67248952 67272191 + 634199;1580863;1643221;6480464 10642288;9933642 12205089;12417987;12477932;12576672;12598940;14702039;15699339;16920332;19276089;19322201;21296876;21551074;7759094;9933641 6553 H3BNY2;J3KSB3;J3KSE2;J3QRV1;Q14940;Q9NSW9 AB209203;ABBA01025433;AC040160;AF111173;AK021876;AK091748;AL137689;AMYH02032227;AMYH02032228;AMYH02032229;BC142671;BC144131;BC150207;CH471092;DB475730;NM_004594;U08607 AAA87678;AAC98696;AAI42672;BAD92440;CAB70875;EAW83114;EAW83115;EAW83116;NP_004585;Q14940 Hs.439650 1341446;1668276;1699702;1731435;1744971;2107619;5019070;5037552 D16S318;D16S421;D8S2279;G44334;GDB:591113;RH103456;RH70396;SLC9A5_7878 NHE-5;NHE5 Na(+)/H(+) exchanger 5;sodium/hydrogen exchanger 5;solute carrier family 9 (sodium/hydrogen exchanger), isoform 5;solute carrier family 9 (sodium/hydrogen exchanger), member 5;solute carrier family 9 member 5 APPROVED protein-coding ENSG00000135740 HGNC:11078 02723 600477 VALIDATED 1352693 SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic mental retardation, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] X X X q26.3 135428360 135490286 + 135067583 135129428 + 135985424 136047269 + 1580863;6480464;7240710;5133679;8554872;8699517 20889352 10528855;11279194;11641397;11707463;11940519;12477932;17370265;18057008;18342287;18976975;19322201;19377476;19471312;19619532;20130086;20301317;20364249;20395263;21171650;21413028;21812100;21881004;21963094;22541666;22931061;9039502;9507001 10479 Q92581 AB074255;ABBA01055849;ABBA01055850;ABBA01055851;ABBA01055852;ABBA01055853;ABBA01055854;AF030409;AK289775;AK296444;AK297218;AK300475;AK314562;AK316255;AL732579;AMYH02040569;AMYH02040570;AMYH02040571;AMYH02040572;BC035029;BC047375;BC049169;CH471150;D87743;DB483081;DC308430;NG_017160;NM_001042537;NM_001177651;NM_006359;R15803;XM_006724726 AAC39643;AAH35029;AAH49169;BAA13449;BAB72002;BAF82464;BAG59095;BAG59701;BAG62192;BAH14626;EAW88481;EAW88482;NP_001036002;NP_001171122;NP_006350;Q92581;XP_006724789 Hs.62185 1701854;1701902;1702280;1726457;1730265;1769434;1771991;2163325;2218028 DXS1009E;DXS1009E.1;DXS424;DXS548;DXS6845;G09809;G62608;SHGC-31813;SLC9A6_3766 KIAA0267;MRSA;NHE6 Na(+)/H(+) exchanger 6;OTTHUMP00000024089;OTTHUMP00000024090;OTTHUMP00000024091;sodium/hydrogen exchanger 6;solute carrier family 9 (sodium/hydrogen exchanger), isoform 6;solute carrier family 9 (sodium/hydrogen exchanger), member 6;solute carrier family 9 member 6 APPROVED protein-coding ENSG00000198689 HGNC:11079 02208 300231;300243 REVIEWED 1342625 SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009] 17 17 17 q25.1 69337944 69358679 + 72744751 72765499 + 74748612 74769360 + 1580863;6480464;6484113;7207465;7240710;8554872;8699517 21777186 10446210;10499588;10562288;10748165;10852925;10980202;11046132;11099500;11158634;11285285;11304524;11352585;11526121;11533036;11684085;11882663;11893083;11956211;11967229;12004055;12075354;12080081;12145337;12193606;12369822;12403779;12444018;12471024;12477932;12499563;12615054;12621035;12626493;12651858;12665801;12830000;12881487;12920119;12954600;14507927;14531806;14580213;14604981;14608357;14702039;14744877;15020681;15070904;15146197;15161943;15302935;15342556;15467753;15489334;15523054;15553237;15805108;16129695;16236806;16456542;16519819;16615918;17078868;17081983;17110338;17237149;17242191;17332506;17342744;17593079;17602283;17613530;17884816;17895247;17911601;17982258;18029348;18045536;18184109;18588753;18754678;18784102;19034380;19056867;19073137;19091402;19139211;19165527;19173579;19188335;19190083;19234136;19308292;19581308;19591839;19615732;19912366;20012548;20031577;20042604;20140636;20203292;20237154;20395446;20404332;20442317;20562104;20571032;20656684;20736378;20801883;20802536;20937695;21139048;21160026;21170265;21191106;21203899;21496870;21672215;21680517;21707710;21804599;21822312;21832055;21906983;21963094;21971156;21983488;21987572;21988832;21990315;22028271;22053931;22190034;22354994;22366766;22440733;22446018;22466651;22476347;22496422;22506049;22610101;22622406;22628548;22766563;22801783;22863883;22939629;22964850;23118026;23284683;23454118;23483729;23583913;23775624;23985317;24012959;24201803;24339979;24583282;24642259;24768637;24788249;24816145;7738182;9096337;9314537;9430655;9560162;9613608;9671706;9677412 9368 J3QRA3;J3QRP6;O14745 ABBA01028827;AC016888;AF015926;AF036241;AI203594;AK026581;AK094467;AK128474;AK312498;AMYH02033979;AMYH02033980;BC001443;BC003361;BC011777;BC049220;BC053350;BP347679;BX648303;CH471099;CN286501;CX761192;NG_013022;NM_004252 AAC04572;AAC52084;AAH01443;AAH03361;AAH11777;AAH49220;AAH53350;BAG35400;BAG52871;BAG54683;EAW89189;EAW89190;EAW89191;NP_004243;O14745 Hs.724482;Hs.744126 1683737;1686502;1846962;1846964;2107617;2140093;5015861;5020948;5022450;5024761;5037552;7185938 A002D35;D10S16;D10S275;D8S2279;G19962;G35510;HUM000S150;RH36905;RH92683;RH98250;SLC9A3R1_7238 EBP50;NHERF;NHERF-1;NHERF1;NPHLOP2 Na(+)/H(+) exchange regulatory cofactor NHE-RF1;Na+/H+ exchange regulatory co-factor;ezrin-radixin-moesin binding phosphoprotein-50;ezrin-radixin-moesin-binding phosphoprotein 50;regulatory cofactor of Na(+)/H(+) exchanger;sodium-hydrogen exchanger regulatory factor 1;sodium/hydrogen exchanger regulatory factor 1;solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1;solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1;solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1;solute carrier family 9 isoform A3 regulatory factor 1 APPROVED protein-coding ENSG00000109062 HGNC:11075 05406 604990;612287 REVIEWED 5135553 SLC9A7P1 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1 12 12 12 q23.1 98511368 98514673 - 98847618 98850923 - 98453840 98457145 - 14702039 121456 ABBA01053290;AC013418;AK092631;AMYH02027035;CH471054;NR_033801 BAG52584;EAW97588 Hs.620643 1718955;1794144 PMC310794P37;RH123185 APPROVED pseudo ENSG00000227825 HGNC:32679 VALIDATED 1350922 SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] X X X p11.3 50658215 50810335 - 46458686 46618607 - 46599251 46759172 - 1580863;6480464 11279194;11944989;12477932;14702039;15772651;15840657;18654930;20364249;21171650;21906983;22076128 84679 Q96T83 ABBA01052231;ABBA01052232;ABBA01052233;ABBA01052234;ABBA01052235;ABBA01052236;ABBA01052237;ABBA01052238;ABBA01052239;ABBA01052240;ABBA01052241;AF298591;AI081096;AK056599;AL022165;AL050307;AL162583;AL512633;AMYH02039260;AMYH02039261;AMYH02039262;BC094742;CH471164;NG_012622;NM_001257291;NM_032591;XM_005272680;XM_005272681;XM_005272682;XM_005272684;XM_006724564 AAI57024;AAK54508;BAG51760;EAW59270;EAW59271;EAW59272;EAW59273;NP_001244220;NP_115980;Q96T83;XP_005272737;XP_005272738;XP_005272739;XP_005272741;XP_006724627 Hs.91389 1335441;1649775;1662348;1671081;1687664;1702368;1702698;1703102;1718955;1776317;1778526;2113224;2129571;2132977;2133441;2171912;2172299;5015619;5016596;5016781;5017227;5020946;5022450;5022463;5037552;7185242 A004O01;AL031091;D10S275;D11S3114;D3S1673;D8S2279;DXS1003;DXS1290;DXS6991E;DXS6996E;DXS7662;DXS9886E;G06244;G38154;GDB:631802;L17971;RH123185;RH18372;RH47308;SHGC-53719;SHGC-57294;SHGC-67307;WI-18364;sWXD3384;sWXD3386 NHE-7;NHE7;SLC9A6 Na(+)/H(+) exchanger 7;OTTHUMP00000023187;nonselective sodium potassium/proton exchanger;sodium/hydrogen exchanger 7;solute carrier family 9 (sodium/hydrogen exchanger), isoform 7;solute carrier family 9 (sodium/hydrogen exchanger), member 7;solute carrier family 9 member 7 APPROVED protein-coding ENSG00000065923 HGNC:17123 02297 300368 REVIEWED 736585 SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011] 1 1 1 p36.1-p35 25822106 25878256 - 27425300 27481621 - 27098809 27155130 - 1625560;1625563;727424;1580863;6480464;6771238;6771334;6771331;6771339;6771325;6771332;6771337;6771327;6771336;6771239;6484113;625494;6907045;8693684;8554872 12039959;12218313;15942020;17356886;18057998;18776042;19179646;19384202;20337040;20883671;22009485;22407349;22588937;22803959 10713111;10913675;11163215;11279064;11350981;11369779;11604491;11696366;11852051;12065894;12138085;12226101;12477932;12479094;12549930;12562776;12576672;12598940;12626508;12682826;12765964;12809501;12905871;14680478;14702039;15035633;15096511;15253667;15269707;15465015;15489334;15523538;15535843;15610042;15677483;15772858;15823043;15843433;16002403;16189514;16306134;16344560;16475831;16511206;16710297;16710414;16861220;17050540;17073455;1712287;17167226;17209041;17332506;17339567;17349711;17565280;17662110;17894388;17913870;17916606;17943310;17981808;17982256;18003619;18094063;18094149;18263712;18264982;18407588;18480176;18508719;18508767;18701649;18757828;18953413;18996841;19176522;19199708;19301149;19479940;19622752;1979310;19835836;19854014;19876777;19887620;19958503;20138826;20301317;20338684;20427472;20542029;20547664;20561412;20609358;20737315;20855896;20936779;20974853;21047280;21063092;21139048;21148407;21170089;21185840;21221801;21261728;21345796;21349616;21413028;21425832;21454803;2154036;21669197;21729545;21867601;21890473;21906983;21931166;22120673;22138972;22216126;22270364;22301060;22494070;22688515;22718548;22772156;22922957;22939629;22984264;23184727;23220151;23224899;23303189;23331996;23393197;23429007;23429008;23602949;23677982;23678047;23837875;23902689;24088894;24136992;24337203;24378530;24434427;24594116;24816145;24840010;24891603;2536298;2846238;8068684;8283968;8901634;9688597 6548 B1ALD5;B2RAH2;B4DTZ6;P19634 ABBA01034949;ABBA01034950;ABBA01034951;ABBA01034952;ABBA01034953;AF141350;AF141351;AF141352;AF141353;AF141354;AF141355;AF141356;AF141357;AF141358;AF141359;AF146430;AF146431;AF146432;AF146433;AF146434;AF146435;AF146436;AF146437;AF146438;AF146439;AK096921;AK124218;AK300432;AK314190;AL137860;AL590640;AMYH02000590;AMYH02000591;BC012121;BC030272;BC090942;BQ775239;BQ775318;CH471059;DA313453;DA853045;HI574184;M81768;M96066;M96067;NG_030006;NM_003047;NR_046474;S68616 AAB59460;AAC60606;AAF21350;AAF21351;AAF21352;AAF21353;AAF21354;AAF21355;AAF21356;AAF21357;AAF21358;AAF21359;AAF25592;AAF25593;AAF25594;AAF25595;AAF25596;AAF25597;AAF25598;AAF25599;AAF25600;AAF25601;AAH12121;ADZ15465;BAG36869;BAG62158;CBX47581;EAX07773;EAX07774;EAX07775;NP_003038;P19634 Hs.469116;Hs.91389 1649775;1661772;1662348;1688086;1740949;1744669;1771844;1778526;2116124;2120275;2161075;2172299;2183461;2218026 AL009835;D1S3323;DXS6991E;DXS6996E;GDB:176410;GDB:549196;RH18372;RH45589;SHGC-53719;SHGC-74483;SHGC-74507;SLC9A1_3868;STS-R72385;STS-S68616 APNH;FLJ39602;FLJ42224;NHE-1;NHE1;PPP1R143 Na(+)/H(+) antiporter, amiloride-sensitive;Na(+)/H(+) exchanger 1;Na+/H+ antiporter, amiloride-sensitive;Na-Li countertransporter;OTTHUMP00000004468;sodium/hydrogen exchanger 1;solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive);solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive);solute carrier family 9 member 1;solute carrier family 9, member 1 APPROVED protein-coding ENSG00000090020 HGNC:11071 00123 107310 REVIEWED 1317829 SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009] 20 20 20 q13.13 45133843 45213359 + 48429250 48508779 + 49812713 49892242 + 6480464;8554872 10231032;11780052;12168954;12409279;12477932;12845533;14702039;15174051;15522866;17081983;17881426;18209477;19109523;20375273;20719963;20953189;21171650;21666503 23315 B4DIV9;B4DIX7;B7Z3B1;Q9Y2E8 AB023156;ABBA01052753;ABBA01052754;ABBA01052755;ABBA01052756;ABBA01052757;ABBA01052758;ABBA01052759;AK124491;AK131001;AK295665;AK295803;AK295822;AK300318;AK308328;AK310530;AL031685;AL049469;AL162615;AL833574;AMYH02037218;AMYH02037219;BC112213;BX424838;BX430866;CH471077;CQ834456;CR749638;NM_001260491;NM_015266;NR_048537;NR_048538;NR_048539;NR_048540;XM_006723756;XM_006723757;XM_006723758 AAI12214;BAA76783;BAC85475;BAG58621;BAG58639;BAG62070;BAH12147;CAH05443;CAH18432;EAW75647;EAW75648;EAW75649;EAW75650;EAW75651;EAW75652;NP_001247420;NP_056081;Q9Y2E8;XP_006723819;XP_006723820;XP_006723821 Hs.444202 1646625;1667571;1668019;1680673;1777963;2168647;2168649;2187601;2218612 A005P06;AL030965;G20391;RH70097;SLC9A8__3795;STS-F09734;WI-20567;Z94308;Z94546 DKFZp686C03237;FLJ42500;KIAA0939;MGC138418;NHE-8;NHE8 Na(+)/H(+) exchanger 8;OTTHUMP00000043368;sodium/hydrogen exchanger 8;solute carrier family 9 (sodium/hydrogen exchanger), isoform 8;solute carrier family 9 (sodium/hydrogen exchanger), member 8;solute carrier family 9 member 8 APPROVED protein-coding ENSG00000197818 HGNC:20728 18062 612730 VALIDATED 6483989 SLC9A9-AS1 SLC9A9 antisense RNA 1 3 3 q24 143061088 143065913 + 143342246 143347071 + 16344560 100885796 ABBA01059014;AC131210;AMYH02007827;DB338547;HG496139;NR_048544 Hs.581618 RP13-635I23.2 APPROVED ncrna ENSG00000240012 HGNC:40928 VALIDATED 2800409 SLC9B1P2 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 2 2 2 p11.1 92070932 92119740 - 91882906 91931714 - 389000 ABBA01048752;ABBA01048753;AC127391;AC128677;AMYH02004287;CH471366;NG_009550 EAW50835 1794260 PMC310890P6 NHEDC1P2 APPROVED pseudo HGNC:37493 INFERRED 3539548 SLC9B1P1 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 1 ENCODES a protein that exhibits solute:proton antiporter activity (inferred); INVOLVED IN hydrogen ion transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH pirinixic acid (ortholog) Y Y q11.21 13496066 13541371 - 11340390 11385695 - 6480464 12815422 100128190 A6NJY1 ABBA01032191;ABBA01032192;ABBA01032193;ABBA01032194;ABBA01032195;ABBA01032196;AC134882;NG_023008 A6NJY1 NHEDC1P1 APPROVED pseudo HGNC:37492 INFERRED 1605279 SLC9B1 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 4 4 4 q24 101105822 101237997 - 103806205 103947552 - 102885048 103020187 - 6480464;8554872 12477932;16850186;19460752 150159 D6RA80;D6RFK4;D6RGI9;D6RHJ0;H0Y9Z0;Q4ZJI4 ABBA01063703;ABBA01063704;ABBA01063705;ABBA01063706;AC018797;AC083826;AC097485;AF213884;AF447585;AK313592;AMYH02009820;AMYH02009821;AY461581;BC022079;BC046636;BC110794;BC132712;BC136966;BC144443;CH471057;DB526003;DQ003059;NG_008662;NM_001100874;NM_139173;NR_047513;NR_047515;XM_006714092;XM_006714093 AAI10795;AAI32713;AAI36967;AAM22868;AAS91021;AAY21808;ADR83330;BAG36359;EAX06152;EAX06153;EAX06154;EAX06155;EAX06156;EAX06157;EAX06158;NP_001094344;NP_631912;Q4ZJI4;XP_006714155;XP_006714156 Hs.666728 1729744;1848399;5015881 D4S246;GDB:335751;WI-22115 MGC131641;NHA1;NHEDC1 CG10806-like;NHE domain-containing protein 1;Na(+)/H(+) exchanger-like domain-containing protein 1;Na+/H+ exchanger domain containing 1;Na+/H+ exchanger like domain containing;Na-H-exchanger protein;OTTHUMP00000219741;OTTHUMP00000219742;sodium/hydrogen exchanger 9B1;sodium/hydrogen exchanger-like domain-containing protein 1;solute carrier family 9 subfamily B member 1;solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 APPROVED protein-coding ENSG00000164037 HGNC:24244 11240 611527 REVIEWED 5553005 SLC9B1P3 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 3 10 10 38933913 38982207 - 38640782 38689076 - 100421008 ABBA01049981;ABBA01049982;ABBA01049983;ABBA01049984;AL133173;FP565576;NG_025429 APPROVED pseudo HGNC:43582 INFERRED 5553004 SLC9B1P5 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 5 16 16 32399452 32447686 + 32388131 32436365 + 100533705 ABBA01003357;ABBA01003358;ABBA01003359;AC138915;AMYH02031863;AMYH02031864;NG_028878 APPROVED pseudo HGNC:43584 INFERRED 733001 SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 16 16 16 p13.3 2289067 2301134 + 2076869 2089027 + 2026868 2039026 + 1580741;1580863;6480464;6484113;6907045;7207465 15311100;21777186 10455146;10748023;10893422;11099500;11118213;11285285;11457882;11751930;11786550;11893083;11948184;11997330;12075354;12080047;12369822;12387817;12421809;12444200;12477932;12499563;12954600;14531806;14604981;14623317;15302935;15489334;15523054;15553237;15616553;15642748;15665527;15728708;16166090;16203867;16456542;16615918;17110338;17229887;17242191;18029348;18045536;18729074;19056867;19091402;19293149;19448074;19555689;19615732;20430067;20562104;20618342;20632170;20663896;21134377;21139048;21187068;21191106;21906983;21913013;21980575;22082156;22343917;22371496;22587461;22939629;23284683;23612977;23798571;23985317;24255178;24613836;24760985;9054412;9096337;9314537;9671706;9748260;9831664 9351 H3BMF5;H3BN50;H3BQS0;H3BUQ9;Q15599 AB014460;AB016243;ABBA01030280;AC005600;AC093513;AF004900;AF035771;AMYH02031241;BC014513;BC069014;BC106001;BQ447156;BQ687174;BX377861;CB961565;CH471112;DB495688;NM_001130012;NM_001252073;NM_001252075;NM_001252076;NM_004785;U82108;XM_005255702;XM_005255703;XM_006720981;Z50150 AAB53042;AAC34208;AAC52090;AAC63061;AAH14513;AAH69014;AAI06002;BAA32696;BAA33216;CAA90511;EAW85563;EAW85564;EAW85565;EAW85566;NP_001123484;NP_001239002;NP_001239004;NP_001239005;NP_004776;Q15599;XP_005255759;XP_005255760;XP_006721044 Hs.440896 1666894;2161458 RH48490;STS-Z50150 E3KARP;MGC104639;NHE3RF2;NHERF-2;NHERF2;OCTS2;SIP-1;SIP1;TKA-1 NHE3 kinase A regulatory protein E3KARP;NHE3 regulatory factor 2;Na(+)/H(+) exchange regulatory cofactor NHE-RF2;SRY-interacting protein 1;sodium-hydrogen exchanger regulatory factor 2;sodium/hydrogen exchanger;sodium/hydrogen exchanger 3 kinase A regulatory protein;solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2;solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2;solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2;solute carrier family 9 isoform A3 regulatory factor 2;tyrosine kinase activator protein 1 APPROVED protein-coding ENSG00000065054 HGNC:11076 05946 606553 REVIEWED 1604997 SLC9B2 solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008] 4 4 4 q24 101243753 101295309 - 103946647 103998480 - 103020230 103077366 - 6480464;8554872 12477932;17988971;18000046;18508966;18600791;20053353;20332099;20713131;21906983;22948142 133308 B7Z676;D6R9P2;D6RGJ7;E9PE63;Q86UD5 AA233228;ABBA01063706;ABBA01063707;AC097485;AK172823;AK297010;AK298506;AK299888;AMYH02009821;BC009732;BC047447;BI914487;BI962996;BM683318;BX359760;CA447309;CH471057;DC297189;NM_001300754;NM_001300756;NM_178833;XM_005262757;XM_005262758;XM_006714084;XM_006714085;XM_006714086;XM_006714087;XM_006714088;XR_427529 AAH09732;AAH47447;BAD18790;BAH12474;BAH12802;BAH13162;EAX06159;EAX06160;EAX06161;NP_001287683;NP_001287685;NP_849155;Q86UD5;XP_005262814;XP_005262815;XP_006714147;XP_006714148;XP_006714149;XP_006714150;XP_006714151 Hs.546482 1677060;1681129;1849995;1849997;2137950;2174550 G34408;RH91901;RH91916;SHGC-24733;SHGC-36602;SHGC-50517 FLJ23984;NHA2;NHE10;NHEDC2 NHE domain-containing protein 2;Na(+)/H(+) exchanger-like domain-containing protein 2;Na+/H+ exchanger domain containing 2;OTTHUMP00000161768;OTTHUMP00000161769;OTTHUMP00000219474;OTTHUMP00000219475;mitochondrial Na(+)/H(+) exchanger NHA2;mitochondrial sodium/hydrogen exchanger 9B2;mitochondrial sodium/hydrogen exchanger NHA2;sodium/hydrogen exchanger-like domain-containing protein 2;solute carrier family 9 subfamily B member 2;solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 APPROVED protein-coding ENSG00000164038 HGNC:25143 14051 611789 VALIDATED 1351436 SLC9C1 solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 SLC9A10 is a member of the sodium-hydrogen exchanger (NHE) family (see SLC9A1, MIM 107310) and is required for male fertility and sperm motility (Wang et al., 2003 [PubMed 14634667]).[supplied by OMIM, Apr 2009] 3 3 3 q13.2 110258818 110421777 - 111859752 112013105 - 112140772 112294258 - 1580863;6480464 12477932;12783626;14634667;20379614;23000155 285335 C9J3M6;F8WCJ0;Q4G0N8 ABBA01061665;ABBA01061666;AC119734;AC128688;AK128084;AMYH02007437;AMYH02007438;AMYH02007439;BC044801;BC143774;BK001328;CH471052;HC007284;NM_183061;XM_006713602;XM_006713603 AAH44801;BAC87265;CBH19447;DAA01462;EAW79679;NP_898884;Q4G0N8;XP_006713665;XP_006713666 Hs.680112 1676686;1676814;1770012;1850338;2119098 AFM290yg5;D3S1215;NIB1965;RH65506;SHGC-87656 NHE;NHE-10;SLC9A10;sNHE Na(+)/H(+) exchanger 10;OTTHUMP00000214496;OTTHUMP00000214497;sodium/hydrogen exchanger 10;solute carrier family 10 member 10;solute carrier family 9 member C1;solute carrier family 9, isoform 10;solute carrier family 9, member 10;sperm-NHE;sperm-specific Na(+)/H(+) exchanger;sperm-specific sodium proton exchanger APPROVED protein-coding ENSG00000172139 HGNC:31401 11257 612738 VALIDATED 1354032 SLC9C2 solute carrier family 9, member C2 (putative) ENCODES a protein that exhibits solute:proton antiporter activity (inferred); INVOLVED IN hydrogen ion transmembrane transport (inferred); sodium ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) 1 1 1 q25.1 146579016 146681647 - 173469604 173572233 - 173500465 173603094 - 8554872 12477932;16344560 284525 B3KXW8;Q5TAH2 ABBA01027903;ABBA01027904;ABBA01027905;AK128104;AK302731;AL139142;AMYH02002155;AMYH02002156;BC042592;BX648119;CH471067;DB071569;NM_178527 AAH42592;BAG54630;BAG63949;EAW90946;EAW90947;EAW90948;NP_848622;Q5TAH2 Hs.494981 2113662 AB072793 MGC43026;NHE-11;RP3-436N22.2;SLC9A11 Na(+)/H(+) exchanger 11;OTTHUMP00000032688;sodium/hydrogen exchanger 11;solute carrier family 9 member C2;solute carrier family 9, isoform 11;solute carrier family 9, member 11 APPROVED protein-coding ENSG00000162753 HGNC:28664 15398 VALIDATED 5553023 SLC9B1P4 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 4 22 22 22 q11.1 225277 273536 + 16909498 16957618 - 16428755 16476875 - 644768 ABBA01001470;ABBA01001471;ABBA01001472;AC137499;AMYH02037976;AP000545;AP000546;NG_022866 APPROVED pseudo HGNC:43583 INFERRED 1607085 SLCO1A2 solute carrier organic anion transporter family, member 1A2 This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008] 12 12 12 p12 26572933 26703770 - 21417534 21548371 - 21264600 21395437 - 6480464;6907045;8554872 10779507;10873595;11238933;12477932;14579113;15553237;15632119;15832500;16344560;18466105;18695635;19010908;19414484;19890249;19901119;19913121;20051929;20379614;20416077;20560925;20628086;20635135;20837016;21133891;21486766;21508937;21633340;21685912;21849517;22124880;22203093;22474172;22509823;22864060;23243220;23918469;7557095;9007731;9328325;9398014;9539145 6579 B4DJE6;C9IYW8;C9JCA7;C9JG34;C9JGK7;C9JHU9;C9JSB7;C9JTF6;C9JUW6;C9K059;F5GXY6;F5H060;P46721 ABBA01067968;AC006559;AC022224;AF085224;AF279784;AJ400735;AK296044;AK316249;AMYH02026166;BC042452;BC144256;BX093727;CH471094;DA184882;DA216595;DA220201;DA322842;DA412674;NM_021094;NM_134431;U21943;XM_005253474;XM_005253477;XM_005253478;Y08062 AAA87732;AAD52694;AAG30037;AAH42452;BAG58808;BAH14620;CAB64372;CAB97006;EAW96422;EAW96423;EAW96424;EAW96425;NP_066580;NP_602307;P46721;XP_005253531;XP_005253534;XP_005253535 Hs.46440 1645861;1663368;1688676;1690093;1743979;1768949;1782672;1796802;1849969;2140655;2145208;2170817;2217460 G17655;G29226;GDB:384719;IAPP_3999;RH44793;RH80996;RH93204;SGC35306;SHGC-153650;SHGC-57392;SLC21A3_1296;WI-11630;WI-20902 OATP;OATP-1;OATP-A;OATP1A2;SLC21A3 OTTHUMP00000209604;OTTHUMP00000209605;organic anion transporting polypeptide A;organic anion-transporting polypeptide 1;sodium-independent organic anion transporter;solute carrier family 21 (organic anion transporter), member 3;solute carrier family 21 member 3;solute carrier organic anion transporter family member 1A2 APPROVED protein-coding ENSG00000084453 HGNC:10956 09112 602883 REVIEWED 1602168 SLCO1B7 solute carrier organic anion transporter family, member 1B7 (non-functional) ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH 1-naphthyl isothiocyanate (ortholog); 17alpha-ethynylestradiol (ortholog); 17beta-estradiol 17-glucosiduronic acid (ortholog) 12 12 12 p12.2 26323985 26398421 + 21168630 21243040 + 21015696 21090106 + 6480464;8554872 20837016 338821 F5H094;G3V0H7;H0YFQ8 ABBA01067966;AC011604;AC087309;AF401642;AMYH02026164;CH471094;NM_001009562 AAQ03085;EAW96417;EAW96418;EAW96419;G3V0H7;NP_001009562 Hs.729117 1796804;2171149;2182812 D12S1836;RH68705;SLC21A8_826 LST-3;LST-3TM12;LST3;SLC21A21 OTTHUMP00000239941;OTTHUMP00000239996;liver-specific organic anion transporter 3;liver-specific organic anion transporter 3TM12;organic anion transporter LST-3b;putative solute carrier organic anion transporter family member 1B7 APPROVED protein-coding ENSG00000205754 HGNC:32934 17455 VALIDATED 736966 SLCO2A1 solute carrier organic anion transporter family, member 2A1 This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011] 3 3 3 q21 132077395 132174290 - 133651540 133748920 - 133932696 134030076 - 1580863;6480464;8699517;7240710;8554872 12477932;14579113;15864125;16339169;16344560;17474147;18353443;18976975;19138942;20346915;20357271;20424473;22060278;22197487;22331663;22553128;22696055;22906430;23509104;24153155;24185079;8787677;9618293;9832484 6578 E7EU40;F8W9W8;Q92959 AB201109;AB201110;AB201111;ABBA01059162;ABBA01059163;AC080128;AC117475;AF056732;AK303550;AK309561;AMYH02007713;AMYH02007714;AMYH02007715;BC041140;BC051347;BU783445;CH471052;DA592947;NG_031964;NM_005630;U70867 AAC09469;AAC62004;AAH41140;AAH51347;BAE03223;BAE03224;BAE03225;BAH13984;EAW79156;NP_005621;Q92959 Hs.518270 1646266;1796800 SHGC-77366;SLC21A2_824 MATR1;OATP2A1;PGT;PHOAR2;SLC21A2 OTTHUMP00000216361;OTTHUMP00000216362;OTTHUMP00000216363;matrin F/G 1;prostaglandin transporter;solute carrier family 21 (prostaglandin transporter), member 2;solute carrier family 21 member 2;solute carrier organic anion transporter family member 2A1 APPROVED protein-coding ENSG00000174640 HGNC:10955 03269 601460;614441 REVIEWED 731528 SLCO1C1 solute carrier organic anion transporter family, member 1C1 This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 12 12 12 p12.2 26003971 26061652 + 20848289 20906320 + 20695355 20753386 + 1580863;634158;6480464;8554872 11981753 12351693;12477932;14579113;15489334;15553237;15652527;15667314;16131319;16344560;16357150;17574004;18391951;18410547;18566113;18687783;18845642;19129463;19179441;19290786;20881960;21486766;21508134;21906983;22569225;23651021 53919 F5H6S4;Q9NYB5 ABBA01067957;AC092491;AF205076;AF260704;AK294333;AK296236;AK303713;AK308729;AL834209;AMYH02026162;AX641713;AX641715;BC022461;CH471094;DA345251;NM_001145944;NM_001145945;NM_001145946;NM_017435;XM_005253394;XM_005253395;XM_005253396;XM_005253397 AAF70338;AAG42208;AAH22461;ABW03661;BAH11737;BAH12289;BAH14027;CAD67738;CAD67739;CAI46209;EAW96411;EAW96412;NP_001139416;NP_001139417;NP_001139418;NP_059131;Q9NYB5;XP_005253451;XP_005253452;XP_005253453;XP_005253454 Hs.47261 2131185 RH46261 OAT-RP-5;OATP-14;OATP-F;OATP1;OATP14;OATP1C1;OATPRP5;SLC21A14 OATPF;OTTHUMP00000239827;OTTHUMP00000239828;OTTHUMP00000239829;organic anion transporter F;organic anion transporter polypeptide-related protein 5;organic anion transporting polypeptide 14;organic anion-transporting polypeptide 14;solute carrier family 21 (organic anion transporter), member 14;solute carrier family 21 member 14;solute carrier organic anion transporter family member 1C1;thyroxine transporter APPROVED protein-coding ENSG00000139155 HGNC:13819 08342 613389 REVIEWED 1350750 SLCO1B3 solute carrier organic anion transporter family, member 1B3 This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012] 12 12 12 p12 26119013 26224987 + 20963638 21070019 + 20810704 20916911 + 1580863;2303132;2303109;2302565;2303111;631887;2316977;6480464;6907045;8699517;7240710;8554872 10500057;12127424;16858290;16895976;17353665;17916651 10779507;11159893;11375950;11677211;12055601;12477932;12695556;14579113;14702039;14739090;14993604;15159445;15226676;16534140;16741617;16877380;17186002;17412826;17496208;17760952;17906856;18029348;18082941;18180273;18294295;18314419;18321482;18391951;18509327;18509328;18519758;18537956;18690707;18695635;19074900;19122334;19228751;19343046;19419973;19442037;19620935;19890249;20051929;20130966;20212519;20560925;20615467;20635135;20639394;20660695;20679960;20720558;20877131;21212528;21256917;21266523;21278621;21606417;21615622;21626360;21691816;21719246;21787759;21849517;21995462;22136368;22147445;22185815;22203093;22221095;22227166;22232210;22240838;22326869;22352740;22580719;22695893;22771883;23188068;23215050;23236639;23340295;23352438;23371916;23394475;23670789;23782748;23812637;23886114;23924606;24150606;24194513;24357722;24762081;8889548 28234 B3KP78;F5H8K0;H0YGG9;Q9NPD5 ABBA01067962;ABBA01067963;AC011604;AF187815;AJ251506;AJ400763;AJ400764;AJ400765;AJ400766;AJ400767;AJ400768;AJ400769;AJ400770;AJ400771;AJ400772;AJ400773;AJ400774;AJ400775;AJ400776;AK055874;AMYH02026163;AY342017;BC022843;BC058006;BC070264;BC105597;BG567966;BM968322;CH471094;NG_032071;NM_019844 AAG43445;AAH22843;AAH70264;AAI05598;AAI41526;AAQ19672;BAG51590;CAB96997;CAB97008;EAW96413;EAW96414;EAW96415;NP_062818;Q9NPD5 Hs.504966 1796804;2171149 RH68705;SLC21A8_826 HBLRR;LST-2;LST-3TM13;LST3;OATP-8;OATP1B3;OATP8;SLC21A8 OTTHUMP00000239924;OTTHUMP00000239942;liver-specific organic anion transporter 2;liver-specific organic anion transporter 3TM13;organic anion transporter 8;organic anion transporter LST-3c;organic anion-transporting polypeptide 8;solute carrier family 21 (organic anion transporter), member 8;solute carrier family 21 member 8;solute carrier organic anion transporter family member 1B3 APPROVED protein-coding ENSG00000111700 HGNC:10961 12021 237450;605495 REVIEWED 733471 SLCO3A1 solute carrier organic anion transporter family, member 3A1 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN sodium-independent organic anion transport (inferred); transmembrane transport (inferred); transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; arsenite(3-) 15 15 15 q26 68809625 69127530 + 92396938 92715665 + 91853708 92172435 + 1580863;6480464;8554872 10873595;12477932;12495658;12542534;14579113;14631946;14702039;15489334;15553237;16971491;18521091;18821565;19330903;20379614;21278488;21486766;22076464;22377092;23251661;23725790;24159190 28232 G3V2B7;G3V3K4;H0YJM0;Q9UIG8 AB031050;ABBA01053087;ABBA01053088;ABBA01053089;AC104020;AC104236;AC113190;AC116903;AC135996;AF187816;AF205074;AK057031;AK097797;AK290872;AK308463;AK310306;AMYH02031067;AMYH02031068;AMYH02031069;BC000585;CH471101;CQ969229;FJ515841;KF456117;NM_001145044;NM_013272;XM_005254889;XM_005254891;XM_006720472;XR_429450 AAG42206;AAG43446;AAH00585;ABM82880;ABM86066;ACS13734;BAA89287;BAF83561;BAG51847;BAG53529;CAI38411;EAX02146;EAX02147;EAX02148;NP_001138516;NP_037404;Q9UIG8;XP_005254946;XP_005254948;XP_006720535 Hs.311187 1340735;1678991;1688650;1722017;1750911;1769868;1783292;1783306;1798176;1852113;1853698;1857982;2112942;2112944;2112946;2112948;2112950;2112982;5017489;5093724 A009V33;D15S1415E;D15S1417E;D15S1421E;D15S1423E;D15S1426E;D15S1450E;D15S652;D15S671;G32886;G59895;RH99134;RH99257;SHGC-104662;SHGC-171522;SHGC-82159;SLC21A11_1798;SLCO3A1;WI-18111;WIAF-2077 FLJ40478;OATP-D;OATP-RP3;OATP3A1;OATPRP3;SLC21A11 OATPD;OTTHUMP00000194777;OTTHUMP00000246724;OTTHUMP00000246728;PGE1 transporter;organic anion transporter polypeptide-related protein 3;organic anion-transporting polypeptide D;sodium-independent organic anion transporter D;solute carrier family 21 (organic anion transporter), member 11;solute carrier family 21 member 11;solute carrier organic anion transporter family member 3A1 protein-coding ENSG00000176463 HGNC:10952 07502 612435 VALIDATED 735453 SLCO4A1 solute carrier organic anion transporter family, member 4A1 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN sodium-independent organic anion transport (inferred); transmembrane transport (inferred); transport (inferred); PARTICIPATES IN multispecific organic anion transporter mediated transport pathway; FOUND IN integral component of membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH 3,4-dichloroaniline; all-trans-retinoic acid; arsenite(3-) 20 20 20 q13.33 57949700 57979500 + 61273795 61317137 + 62642443 62685785 + 1580863;727314;6480464 11316767 10873595;11780052;12477932;12915686;14579113;14702039;15302935;15489334;15994332;16341674;19343046;21486766;21906983;21963094;21987572;22505724 28231 E1P5H9;Q96BD0 AB031051;ABBA01021366;ABBA01021367;ABBA01045411;AF104334;AF187817;AF205072;AI660559;AK000551;AK023410;AK095985;AL357033;AMYH02037436;AMYH02037437;AMYH02037438;BC015727;BM846201;CH471077;CQ969231;GN060127;NM_016354;XM_005260203;XR_244115;XR_244116;XR_244117 AAF15545;AAG42204;AAG43447;AAH15727;ABM83783;ABM87103;BAA89288;BAA91247;BAB14566;CAI38412;CAX52187;EAW75348;EAW75349;EAW75350;EAW75351;NP_057438;Q96BD0;XP_005260260 Hs.235782 1685065;1687786 RH65335;RH74808 OATP-E;OATP-RP1;OATP1;OATP4A1;OATPRP1;POAT;SLC21A12 OATPE;OTTHUMP00000031492;OTTHUMP00000031493;colon organic anion transporter;organic anion transporter polypeptide-related protein 1;organic anion transporting polypeptide E;organic anion-transporting polypeptide E;sodium-independent organic anion transporter E;solute carrier family 21 (organic anion transporter), member 12;solute carrier family 21 member 12;solute carrier organic anion transporter family member 4A1 protein-coding ENSG00000101187 HGNC:10953 11582 612436 VALIDATED 8662026 SLCO4A1-AS1 SLCO4A1 antisense RNA 1 20 20 20 q13.33 57970232 57973826 - 61294379 61297973 - 62663027 62666621 - 11181995;12477932;8889548 100127888 ABBA01021367;AL357033;AMYH02037437;AMYH02037438;BC025345;BU741282;CH471077;HG511525;HG511526;NR_024470 AAH25345;EAW75352;EAW75353 Hs.671273 ncrna ENSG00000232803 HGNC:40537 VALIDATED 1354473 SLCO4C1 solute carrier organic anion transporter family, member 4C1 SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008] 5 5 5 q21.2 97517512 97580066 - 101569690 101632253 - 102233986 102296549 - 6480464 14579113;14993604;19056867;19197249;19875811;19913121;20610891;20628086;20691413;24163370 353189 Q6ZQN7;Q9P181 ABBA01069153;AC008948;AC099515;AF119865;AF401643;AK128854;AMYH02011873;AY273896;BX647349;BX647577;BX647880;CH471086;NM_180991 AAF69619;AAI48352;AAI52990;AAP33047;AAQ03086;BAC87647;CAH56201;EAW49099;EAW49100;NP_851322;Q6ZQN7 Hs.127648 1697466;2107621 RH102234;SLCO4C1__6854 OATP-H;OATP-M1;OATP4C1;PRO2176;SLC21A20 OATPX;OTTHUMP00000222642;SLCO4C1 {ECO:0000312|EMBL:EAW49099.1, ECO:0000312|HGNC:HGNC:23612};organic anion transporter M1;solute carrier family 21 member 20;solute carrier organic anion transporter family member 4C1 APPROVED protein-coding ENSG00000173930 HGNC:23612 12354 609013 VALIDATED 1314947 SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012] 3 3 3 q24 141407434 141990172 - 142984063 143567373 - 143265222 143848531 - 1580863;6480464;7240710;8554872 12477932;14569117;14702039;15489334;15522866;16344560;17903302;18649358;18821565;18937294;19268276;20032819;20379614;20708005;20732626;21171650;21555518;21858920;21908519;22566498;23374588;24065030;24324551 285195 C9IZP1;F8WF83;Q8IVB4 AB075486;AB089794;ABBA01059011;ABBA01059012;ABBA01059013;ABBA01059014;AC016934;AC073242;AC073358;AC107421;AC116423;AC131210;AI252807;AK092932;AK301816;AK315107;AL832304;AMYH02007827;AMYH02007828;AMYH02007829;AMYH02007830;AY254100;BC035779;CH471052;DA387367;DB285312;KF457688;NG_017077;NM_173653 AAH35779;AAP80573;BAC04005;BAD69592;BAE45746;BAG37567;BAG63263;CAI46158;EAW78950;EAW78951;NP_775924;Q8IVB4 Hs.302257 1336275;1340136;1644682;1708116;1708910;1721011;1755083;1756829;1760545;1761415;1763009;1765325;1772006;1772170;1784570;1784748;1784778;1784788;2147040;2185497;2186645;7186712 D3S1569;D3S3373;D3S3599;G59487;RH16165;SHGC-106921;SHGC-142017;SHGC-143952;SHGC-143982;SHGC-145424;SHGC-146757;SHGC-148816;SHGC-154454;SHGC-154961;SHGC-155079;SHGC-33458;SHGC-79506;SHGC-81458;STS-AA029791;WI-11313;WI-11352 AUTS16;FLJ35613;NHE9;Nbla00118 Na(+)/H(+) exchanger 9;OTTHUMP00000215083;putative protein product of Nbla00118;sodium/hydrogen exchanger 9;sodium/proton exchanger NHE9;solute carrier family 9 (sodium/hydrogen exchanger), isoform 9;solute carrier family 9 (sodium/hydrogen exchanger), member 9 APPROVED protein-coding ENSG00000181804 HGNC:20653 12226 608396;613410 REVIEWED 1349513 SLEB1 systemic lupus erythematosus susceptibility 1 ASSOCIATED WITH Legionnaires' Disease (inferred); Lupus Erythematosus, Systemic (inferred) 7240710 9045876 7833 1335312;1335412;1336704;1337665;1339856;1341601;7183716;7185442;7186362;7186948 D1S103;D1S229;D1S235;D1S245;D1S2785;D1S2800;D1S3462;D1S446;D1S484 HGNC:11080 601744;608556;615557 1346708 SLEB2 systemic lupus erythematosus susceptibility 2 ASSOCIATED WITH Lupus Erythematosus, Systemic (inferred); Multiple Sclerosis (inferred) 7240710 10677248 56179 1298231;1298234;1336218;1339619;1341679;7185427;7186284 D2S1391;D2S151;D2S162;D2S301;D2S325 HGNC:11081 126200;605218 1344156 SLEB3 systemic lupus erythematosus susceptibility 3 ASSOCIATED WITH Lupus Erythematosus, Systemic (inferred) 7240710 11078476 64695 1298103;1331564;7186345 D4S2366;D4S403 HGNC:14535 605480 1348123 SLEH1 systemic lupus erythematosus with hemolytic anemia 1 ASSOCIATED WITH SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1 (inferred) 7240710 170682 1298202 D11S2002 HGNC:17420 607279 1349376 SLEN2 systemic lupus erythematosus with nephritis 2 ASSOCIATED WITH SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2 (inferred) 7240710 12215904 192679 1299886 D2S2972 HGNC:18543 607966 1351659 SLEN1 systemic lupus erythematosus with nephritis 1 ASSOCIATED WITH SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1 (inferred) 7240710 12215904 192677 HGNC:18542 607965 1347311 SLEN3 systemic lupus erythematosus with nephritis 3 ASSOCIATED WITH SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3 (inferred) 7240710 12215904 282849 1339636 D11S1984 HGNC:18544 607967 1353358 SLCO6A1 solute carrier organic anion transporter family, member 6A1 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); plasma membrane (inferred); INTERACTS WITH trichostatin A; 4,4'-diaminodiphenylmethane (ortholog); acrylamide (ortholog) 5 5 5 q21.1 97655507 97782570 - 101707492 101834720 - 102371782 102499016 - 6480464;8554872 12477932;12677006;19397531;19571808;20379614;22412388;23974872;24468470 133482 C9J020;H0Y8R6;Q86UG4 ABBA01069153;AC094108;AC113417;AF505657;AK131445;AMYH02011874;AMYH02011875;AMYH02011876;AY273897;BC034976;BG772379;BM554439;CH471086;DB513513;HC044607;HY036202;HY200806;KF457963;NM_001289002;NM_001289004;NM_173488;XM_005271874 AAH34976;AAP30851;AAP33048;ABM84485;ABM84968;BAD18590;CBH30633;EAW49095;EAW49096;EAW49097;EAW49098;NP_001275931;NP_001275933;NP_775759;Q86UG4;XP_005271931 Hs.388874 CT48;GST;MGC26949;OATP-I;OATP6A1 OATPY;OTTHUMP00000222643;OTTHUMP00000222644;OTTHUMP00000222645;cancer/testis antigen 48;gonad-specific transporter;organic anion-transporting polypeptide 6A1;organic anion-transporting polypeptide I;solute carrier family 21 member 19;solute carrier organic anion transporter family member 6A1;testis-specific organic anion transporter protein-coding ENSG00000205359 HGNC:23613 15400 613365 VALIDATED 1342797 SLEV1 systemic lupus erythematosus, vitiligo-related 1 ASSOCIATED WITH CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA (inferred); VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (inferred) 7240710 11592035 140652 HGNC:18176 606579;615225 1605673 SLFN12 schlafen family member 12 ENCODES a protein that exhibits ATP binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; formaldehyde 17 17 17 q12 30648230 30669690 - 33738079 33760302 - 35410922 35433176 - 6480464;8554872 12477932;14702039;15489334;23000965;23455924;24768141;9846487 55106 C9J4K7;C9JIA1;Q8IYM2 ABBA01011230;AC060766;AK001122;AK291826;AMYH02033349;BC035605;BX647081;CB045471;CH471147;NM_001289009;NM_018042;XM_005257995;XM_006721967 AAH35605;BAA91512;BAF84515;EAW80154;EAW80155;NP_001275938;NP_060512;Q8IYM2;XP_005258052;XP_006722030 Hs.663548 FLJ10260;SLFN3 OTTHUMP00000163883;OTTHUMP00000163884 protein-coding ENSG00000172123 HGNC:25500 08543 614955 VALIDATED 2291763 SLFN12L schlafen family member 12-like ENCODES a protein that exhibits ATP binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; cadmium atom; 17alpha-ethynylestradiol (ortholog) 17 17 17 q12 30708342 30775018 - 33801942 33814758 - 35474923 35487739 - 6480464 14569139;14702039;16344560;16625196;20045101;20379614;20800221;21145461;9846487 100506736 Q6IEE8 ABBA01011230;AC015911;AK172761;AMYH02033349;BN000147;DA814276;NM_001195790 CAD80167;NP_001182719;Q6IEE8 Hs.447559 1340036;1686370;1724977;1729705;1775262;2116428 D17S583;D17S907;RH118776;RH17438;RH45318;WI-22629 FLJ23922 OTTHUMP00000236556;OTTHUMP00000238672 protein-coding HGNC:33920 614956 VALIDATED 1602272 SLFN14 schlafen family member 14 ENCODES a protein that exhibits ATP binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 17 17 17 q12 30785278 30795239 - 33874728 33886783 - 35547709 35559764 - 6480464;8554872 12477932;22139419;9846487 342618 P0C7P3 ABBA01011230;AC015911;AMYH02033349;BC140847;BC157877;BC157879;BU658532;CH471147;NM_001129820;XM_005257968 AAI40848;AAI57878;AAI57880;EAW80144;NP_001123292;P0C7P3;XP_005258025 Hs.591193 1722545;2122804;2130084 G60199;RH35897;SHGC-34858 protein-coding ENSG00000236320 HGNC:32689 614958 PROVISIONAL 1603889 SLFN5 schlafen family member 5 ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17alpha-ethynylestradiol; aflatoxin B1; amiodarone 17 17 17 q12 30480259 30504950 + 33570086 33594768 + 35243067 35267749 + 6480464;8554872 12477932;14702039;15342556;15489334;20956525;21139048;21252943;21906983;21963094;22505724;22939629;23022380;23667531;24816145;9846487 162394 B4E128;Q08AF3 ABBA01011228;ABBA01011229;AC022706;AC022916;AK054668;AK075116;AK303299;AK303632;AL832814;AMYH02033345;BC021238;BC125200;BC125201;BP281007;BX102817;BX647942;CD704489;CH471147;NM_144975;XM_005257934 AAH21238;AAI25201;AAI25202;ABM83860;ABM87182;BAB70788;BAG64373;BAG64640;EAW80159;NP_659412;Q08AF3;XP_005257991 Hs.709347 1783502;5121716;5124749 RH45715;RH79990;SHGC-145866 MGC150611;MGC150612;MGC19764 protein-coding HGNC:28286 17519 614952 VALIDATED 1603541 SLFNL1 schlafen-like 1 ENCODES a protein that exhibits ATP binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; diazinon; paracetamol (ortholog) 1 1 1 p34.2 39764190 39770348 - 41481269 41489116 - 41015597 41023444 - 6480464;8554872 12477932;14702039;15489334;16344560;16710414;21832049 200172 Q499Z3 ABBA01023155;AK097609;AK292296;AL391730;AMYH02000865;BC022037;BC037879;BC050353;CH471059;DB046748;NM_001168247;NM_001300859;NM_144990;XM_005270596;XM_005270597;XM_005270598;XM_005270599;XM_005270600;XM_005270601;XM_005270602;XM_006710432 AAH22037;AAH37879;AAH50353;BAF84985;EAX07187;EAX07188;EAX07189;NP_001161719;NP_001287788;NP_659427;Q499Z3;XP_005270653;XP_005270654;XP_005270655;XP_005270656;XP_005270657;XP_005270658;XP_005270659;XP_006710495 Hs.194609 1686440;5015619;5037552 D11S3114;D8S2279;RH99163 FLJ23878;MGC43873 OTTHUMP00000006326;OTTHUMP00000006327;OTTHUMP00000006328;OTTHUMP00000006329;schlafen-like protein 1 protein-coding ENSG00000171790 HGNC:26313 08044 VALIDATED 6767045 SLFNL1-AS1 SLFNL1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 1 1 1 p34 39763183 39792484 + 41480262 41509562 + 41014590 41043890 + 8554872 100507178 ABBA01023155;AL110502;AL157461;AL391730;AMYH02000865;NR_037868 Hs.660056 1686440;1694530;1721809;1722523;1854910;1856084;2137298;2155605;5019895;5020948;5022578;5022651;5037552 AL010124;D11S2921;D1S1423;D8S2279;G27473;G35510;G43043;G54630;G59927;G60187;RH99163;SHGC-74656;SHGC-74660 APPROVED ncrna HGNC:44126 VALIDATED 1316144 SLCO5A1 solute carrier organic anion transporter family, member 5A1 This gene encodes a 12 transmembrane domain protein that is a member of the solute carrier organic anion transporter superfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 8 8 8 q13.3 66582145 66744912 - 70584110 70747299 - 69671875 69835064 - 1580863;6480464;8554872 12477932;12507753;14702039;20041166;20379614;20602915;21278488;23934736;24376674 81796 B3KUC7;E9PPI0;Q9H2Y9 AA602921;ABBA01041926;ABBA01041927;AC024680;AC079089;AC091047;AF205075;AK022760;AK096879;AK299048;AK307567;AK308488;AMYH02018160;BC016067;BC137424;BC139755;BC144618;CA449383;CH471068;NM_001146008;NM_001146009;NM_030958;XM_005251313;XR_428341 AAG42207;AAH16067;AAI37425;AAI39756;BAG51109;BAG53389;BAG61121;EAW86957;EAW86958;NP_001139480;NP_001139481;NP_112220;Q9H2Y9;XP_005251370 Hs.152460;Hs.443609 1733494;1748813;1752317;1773430;1798178 AFMA205XE9;D8S1061;SHGC-106286;SHGC-110440;SLC21A15_822 FLJ39560;OATP-J;OATP-RP4;OATP5A1;OATPRP4;SLC21A15 OTTHUMP00000228515;OTTHUMP00000228516;OTTHUMP00000228518;organic anion transporter polypeptide-related protein 4;solute carrier family 21 (organic anion transporter), member 15;solute carrier family 21 member 15;solute carrier organic anion transporter family member 5A1 APPROVED protein-coding ENSG00000137571 HGNC:19046 15399 613543 REVIEWED 733848 SLIT1 slit homolog 1 (Drosophila) ENCODES a protein that exhibits Roundabout binding; INVOLVED IN axon extension involved in axon guidance; axon guidance; motor neuron axon guidance; ASSOCIATED WITH Brain Injuries (ortholog); Spinal Cord Injuries (ortholog); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; amphotericin B 10 10 10 q23.3-q24 92499394 92687283 - 98757795 98945683 - 96998038 97185926 - 68762;634084;737816;2316136;6480464;8554872 11804570;16262652;9693030;9813312 10364234;10432110;10433822;11748139;12107412;12141424;12168954;12200164;12477932;15207848;16162649;16385451;16713569;16840550;17062560;18029348;18829537;23251661;23382691;24376456 6585 A6H8V1;O75093;Q5T0V0;Q5T0V2;Q5T0V3;Q5T0V4 AB011537;AB017167;ABBA01021819;AL442123;AL512424;AMYH02023603;AY029183;BC028105;BC139909;BC146761;BC146851;CD671648;CH471066;NM_003061 AAI46762;AAI46852;AAK31796;BAA32465;BAA35184;EAW49956;EAW49957;EAW49958;EAW49959;NP_003052;O75093 Hs.632082 1340608;1649403;1652799;1663975;1683271;1722757;1782188;2111005;2129208;2165709;2166617;2184246;5093026;5094832;5113471 A009E24;D10S1157;D10S1210;D10S1758;D10S477E;G32476;G60317;RH46480;RH66322;RH92281;RH94174;SHGC-156107;SLIT1;WI-13377;WI-15882 MEGF4;MGC164811;SLIL1;SLIT3;Slit-1 OTTHUMP00000020182;OTTHUMP00000020183;multiple EGF-like domains protein 4;multiple epidermal growth factor-like domains protein 4;slit homolog 1 protein protein-coding ENSG00000187122 HGNC:11085 04773 603742 VALIDATED 8694735 SLIT1-AS1 SLIT1 antisense RNA 1 10 10 10 92604096 92605087 + 98862513 98863593 + 97102756 97103747 + 12477932;21832049 100505540 ABBA01021819;AI018280;AL512424;AMYH02023603;BC021189;HG503187;NR_038330 Hs.568878 ncrna ENSG00000234855 HGNC:51198 VALIDATED 1605312 SLFN11 schlafen family member 11 ENCODES a protein that exhibits tRNA binding; INVOLVED IN defense response to virus; negative regulation of G1/S transition of mitotic cell cycle; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH benzene; benzo[a]pyrene diol epoxide I; calcitriol 17 17 17 q12 30587468 30610868 - 33677324 33700821 - 35350305 35373802 - 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15342556;15489334;15489336;16381901;17643375;21890473;22505724;22678362;22927417;22939624;22990118;23000900;23022380;23667531;23891004;24332808;24816145;9846487 91607 C9J902;C9JDG6;C9JUT2;K7EIM3;K7EJJ3;K7EKT7;K7ER38;K7ES87;Q7Z7L1 ABBA01011230;AC060766;AK074184;AK092241;AL512731;AL831964;AMYH02033348;AMYH02033349;BC052586;BM996330;BP245452;BX490030;CB265500;CH471147;NM_001104587;NM_001104588;NM_001104589;NM_001104590;NM_152270;XM_005258068;XM_006722171 AAH52586;AAI41661;BAB85010;BAC03835;CAD38606;CAL38551;EAW80156;EAW80157;EAW80158;NP_001098057;NP_001098058;NP_001098059;NP_001098060;NP_689483;Q7Z7L1;XP_005258125;XP_006722234 Hs.745059 1657885;5022651 D11S2921;SHGC-53150 FLJ34922;SLFN8/9 OTTHUMP00000163875;OTTHUMP00000163876 protein-coding ENSG00000172716 HGNC:26633 08178 614953 VALIDATED 5487909 SLIT2-IT1 SLIT2 intronic transcript 1 (non-protein coding) 4 4 20393812 20396479 + 20392189 20394856 + 11181995 100505893 ABBA01032643;AC108011;AMYH02008852;BC041440;BI831389;BX089083;CH471069;HG496775;NR_037876 EAW92794 Hs.665305 1698226 RH102649 RP13-511O19.1 ncrna HGNC:41383 VALIDATED 1344263 SLCO1B1 solute carrier organic anion transporter family, member 1B1 This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009] 12 12 12 p 26439508 26548115 + 21284128 21392730 + 21131194 21239796 + 1580863;2316977;2316509;6480464;6907361;6907045;8699517;7240710;8554872 17253883;17353665;22170007 10358072;10601278;10644574;10779507;10873595;11134001;11477075;11483603;12130747;12196548;12477932;12490595;12670950;12811365;14579113;15116054;15226675;15319464;15519273;15535988;15548849;15864125;15864131;15952872;15961978;16004557;16198652;16198653;16255851;16513443;16515396;16534140;16542205;16568260;16678544;16678545;16722833;16758257;16784736;16796707;16847425;16906022;16917677;17047488;17108811;17412826;17415554;17439540;17460607;17473846;17496208;17568401;17622941;17635496;17641954;17766002;17883959;17885626;17906856;17923851;17932728;17973861;17989996;17996736;18154446;18159134;18180273;18185926;18187595;18192894;18221820;18314419;18321482;18399713;18408565;18443034;18499754;18518855;18551036;18558634;18641915;18650507;18695635;18781850;18794729;18823304;18854776;19005461;19122343;19129086;19144951;19238116;19238167;19238654;19243019;19244099;19293444;19343046;19349540;19374892;19387419;19390945;19397531;19414484;19442037;19590950;19620935;19642078;19667110;19760661;19771428;19776292;19833260;19842932;19858149;19890249;19901119;19934028;19952871;19956635;20031551;20040338;20051929;20078617;20173083;20175818;20207952;20212519;20347093;20389299;20403997;20406215;20514852;20602615;20635135;20660695;20679960;20712525;20827719;20837016;20839930;20877131;20973885;21072184;21092521;21243006;21245207;21309757;21327909;21457551;21500146;21646302;21655991;21691816;21709081;21719246;21743379;21787759;21849517;21851379;21882531;21886157;21902813;21992719;22041697;22088425;22136368;22147369;22178260;22189199;22203093;22232210;22240838;22505549;22562052;22574206;22695893;22749334;22771883;22829776;22842957;23010650;23190519;23216274;23233662;23236639;23243220;23248200;23263738;23281178;23285087;23340295;23361102;23436703;23461378;23471819;23503447;23556337;23625433;23652803;23670789;23708174;23778707;23850112;23858103;23886114;23929842;23930675;23942138;23970802;24090270;24194513;24263182;24324551;24673529;24762081;24865931 10599 Q05CV5;Q9Y6L6 AB026257;ABBA01067967;ABBA01067968;AC022335;AF060500;AF205071;AJ132573;AJ400749;AJ400750;AJ400751;AJ400752;AJ400753;AJ400754;AJ400755;AJ400756;AJ400757;AJ400758;AJ400759;AJ400760;AJ400761;AJ400762;AK312970;AMYH02026164;AMYH02026165;AY945934;BC005243;BC020696;BC054878;BC070172;BC105596;BC114376;CH471094;CQ969227;CS172507;GN060123;NG_011745;NM_006446 AAD38323;AAF20212;AAH20696;AAH54878;AAH70172;AAI05597;AAI14377;AAX20114;BAA78639;BAG35809;CAB62577;CAB97007;CAI38410;CAJ33680;CAX52185;EAW96420;EAW96421;NP_006437;Q9Y6L6 Hs.449738 1771676;1782612;2108915 RH1600;SHGC-153709;SLC21A6_1910.2 HBLRR;LST-1;LST1;MGC133282;OATP-2;OATP-C;OATP1B1;OATP2;SLC21A6 OATPC;OTTHUMP00000239999;liver-specific organic anion transporter 1;sodium-independent organic anion-transporting polypeptide 2;solute carrier family 21 (organic anion transporter), member 6;solute carrier family 21 member 6;solute carrier organic anion transporter family member 1B1 APPROVED protein-coding ENSG00000134538 HGNC:10959 09214 237450;604843 REVIEWED 1318872 SLITRK1 SLIT and NTRK-like family, member 1 This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 13 13 13 q31.1 65348921 65354105 - 84451340 84456528 - 83877205 83882393 - 1580863;6480464;7240710;8554872;8699517 11572484;12477932;12975309;14550773;14557068;15057823;15489334;16224024;16323357;16344560;16936762;17003809;17035247;17083340;17671968;17712845;18004766;18021920;18413575;18698576;18722020;19018236;19240061;20301778;20351724;21458401;22365631;23326512;23333760;23528612;23990902;24529757 114798 Q96PX8 AA677641;AB067497;ABBA01021738;ABBA01021739;AI500170;AK299479;AL355481;AMYH02028386;AY358289;BC051738;CH471093;DA240278;DC334447;HY157227;NG_016748;NM_001281503;NM_052910 AAH51738;AAQ88656;BAB67803;BAG61443;EAW80608;NP_001268432;NP_443142;Q96PX8 Hs.415478;Hs.627477;Hs.694617 1736356;1857774;1857776;2139733;2152680;5021966;5023105 D13S865E;G31128;RH66461;WI-20640;WI-21805;btcn17872;contig_113052 FLJ54428;KIAA0918;KIAA1910;LRRC12;RP11-395N17.1;TTM OTTHUMP00000018546;SLIT and NTRK-like protein 1;leucine-rich repeat-containing protein 12;slit and trk like gene 1 APPROVED protein-coding ENSG00000178235 HGNC:20297 18063 137580;609678;613229 REVIEWED 733245 SLIT3 slit homolog 3 (Drosophila) The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 5 5 5 q35 164128856 164759439 - 168088738 168728133 - 168661733 169301129 - 68762;634084;1580863;2316136;6480464;8554872 16262652;9693030;9813312 10349621;11443047;11748139;11754167;12141424;12358155;12477932;12975309;14702039;15207848;15231749;16162649;16840550;18566128;18628988;18829537;19228371;19240061;19741192;20163849;20298552;20379614;20881960;21078908;21152026;21465248;22614124;22922792;23720784;24090675;24158112 6586 O75094 AB011538;AB017169;ABBA01044111;ABBA01044112;ABBA01044113;ABBA01044114;ABBA01044115;ABBA01044116;ABBA01044117;ABBA01044118;ABBA01044119;ABBA01044120;ABBA01044121;AC008409;AC008479;AC011365;AC011389;AC027311;AC094081;AC112165;AF075240;AF086552;AI741785;AK001626;AK310549;AL122074;AMYH02012701;AMYH02012702;AMYH02012703;AMYH02012704;AMYH02012705;AY358884;BC062365;BC098388;BC142665;BC142717;BC146759;CH471062;HY285022;KC877156;KC877164;KC877170;KC877179;KF570256;NG_033081;NM_001271946;NM_003062;XR_427809 AAD19336;AAI46760;AAQ89243;BAA32466;BAA35186;CAB59249;EAW61499;EAW61500;EAW61501;NP_001258875;NP_003053;O75094 Hs.552087 1334585;1339784;1341104;1341950;1342149;1644309;1648690;1658786;1683353;1688500;1696246;1698062;1751371;1752405;1753615;1757001;1758793;1759729;1761719;1764067;1776406;1780730;1780734;1785258;1785404;1785454;1846951;1851221;1853108;2108507;2117562;2121174;2127519;2139950;2139954;2152511;2158161;5021916;7186059 A003N35;AFMa109xa5;D21S2030;D5S2043;D5S2045;D5S2052;D5S2075;D5S2559;D5S400;D5S605;G16886;G16910;G16948;RH102563;RH92323;RH92760;SGC32449;SGC44608;SHGC-105008;SHGC-105270;SHGC-106334;SHGC-107512;SHGC-143393;SHGC-144356;SHGC-145693;SHGC-147724;SHGC-149272;SHGC-150624;SHGC-150783;SHGC-83613;SLIT3_8631;STS-R89593;WI-11149;WI-14817;WI-17129;bac51840S;bac51858T;ha3001 FLJ10764;MEGF5;SLIL2;SLIT1;Slit-3;slit2 OTTHUMP00000160960;OTTHUMP00000223095;multiple EGF-like domains protein 5;multiple epidermal growth factor-like domains protein 5;slit homolog 3 protein protein-coding ENSG00000184347 HGNC:11087 04775 603745 REVIEWED 1603573 SLFN13 schlafen family member 13 ENCODES a protein that exhibits ATP binding (inferred); FOUND IN intracellular; INTERACTS WITH (-)-demecolcine; benzo[a]pyrene; ethyl methanesulfonate 17 17 17 q12 30672287 30686046 - 33762115 33775856 - 35435096 35448837 - 6480464 11076863;11230166;11256614;12477932;14702039;15489336;16344560;16381901;9846487 146857 E9PKT7;E9PM29;E9PMV5;K7EPV8;Q68D06 ABBA01011230;AC015911;AC060766;AK056514;AK074465;AK122750;AK126184;AK127728;AL832726;AL833747;AMYH02033349;AX497214;BC136622;BC171771;CH471147;CR749630;DA720331;NM_144682;XM_005257922;XM_005257923;XM_006721720 AAI36623;AAI71771;BAB71201;BAG53704;BAG54293;CAD48665;CAH18424;CAH56227;CAL37815;EAW80150;EAW80151;EAW80152;EAW80153;NP_653283;Q68D06;XP_005257979;XP_005257980;XP_006721783 Hs.462833 5022578 D1S1423 DKFZp666J196;DKFZp686I026;FLJ31952;SLFN10 OTTHUMP00000228452;OTTHUMP00000228454;OTTHUMP00000228456;OTTHUMP00000228457 protein-coding ENSG00000154760 HGNC:26481 08716 614957 VALIDATED 736486 SLCO2B1 solute carrier organic anion transporter family, member 2B1 This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010] 11 11 11 q13 72168595 72224004 + 74862032 74917445 + 75150987 75214669 + 1580863;2316977;6480464;8554872 17353665 10048485;10873595;11159893;11932330;12130747;12409283;12477932;14579113;14702039;15226675;15489334;16754786;16908597;17906856;18501590;19237515;19343046;19383542;19620935;19940267;20159975;20173083;20560925;20635135;20679960;20974993;21266523;21278488;21606417;21780830;21832049;21849517;22021325;22201122;22822035;23132664;23151832;23190519;23531488;23896625;23970434;24762081;8889548 11309 C7BWB6;E9PI53;E9PIU9;E9PN87;E9PRW4;F6V7H5;H0YE11;O94956 AB020687;AB026256;ABBA01017472;ABBA01017473;AF205073;AK127289;AK127363;AK290234;AK294503;AK296079;AK300134;AK302492;AK304783;AL117465;AL833466;AMYH02025112;AP001972;BC041095;BC127254;CH471076;CK299190;CQ969225;DC335261;DC343392;DC362722;FM209049;FM209050;FM209051;FM209052;FM209053;GN060121;KF455415;NG_027921;NM_001145211;NM_001145212;NM_007256;XM_006718427 AAG42205;AAH41095;BAA74903;BAA78638;BAF82923;BAG57720;BAG58835;BAG61922;BAG63777;BAG65535;CAB55940;CAH56206;CAI38409;CAR64268;CAR64269;CAR64270;CAR64271;CAR64272;CAX52184;EAW74956;EAW74957;EAW74958;NP_001138683;NP_001138684;NP_009187;O94956;XP_006718490 Hs.7884 1737885;1782310;2108917;2128078;2146836;2164080;5014051;5014053;5109281;7185995 D11S1073;D11S3488;D1S1425;D1S3693;D8S2278;RH45548;SHGC-142426;SLC21A9_406.2;STS-T26641 DKFZp686E0517;KIAA0880;OATP-B;OATP-RP2;OATP2B1;OATPRP2;SLC21A9 OATPB;OTTHUMP00000229671;OTTHUMP00000229672;OTTHUMP00000229673;OTTHUMP00000229674;OTTHUMP00000229675;OTTHUMP00000229681;organic anion transporter B;organic anion transporter polypeptide-related protein 2;solute carrier family 21 (organic anion transporter), member 9;solute carrier family 21 member 9;solute carrier organic anion transporter family member 2B1 APPROVED protein-coding ENSG00000137491 HGNC:10962 07061 604988 REVIEWED 1323602 SLIRP SRA stem-loop interacting RNA binding protein Steroid receptor RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing multiple stable stem-loop structures that functions in coactivation of nuclear receptors. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear receptor transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM, Mar 2008] 14 14 14 q24.3 58212937 58222439 + 78174414 78183941 + 77708071 77717598 + 6480464 12477932;15342556;15489334;16196087;16341674;16762838;17081983;18029348;19596235;19615732;19680543;20186120;20200222;20877624;21139048;21890473;22113938;22190034;22661577;22939629;23443559;23798571;24337577;24583282;24816145;8889548 81892 G3V2S9;G3V4X6;H0YJ07;H0YJ40;H0YJI1;H0YJU7;H0YJW7;Q9GZT3 ABBA01030646;AC008044;AC008372;AF253980;AF271779;AJ272055;AMYH02029577;AY860853;BC017895;BM685909;BP289922;BQ083727;BU944910;BU955571;BU960115;CH471061;EL951262;NM_001267863;NM_001267864;NM_031210;NR_052025 AAG44629;AAG44790;AAH17895;AAX58600;ADR82692;CAC81241;EAW81303;EAW81304;NP_001254792;NP_001254793;NP_112487;Q9GZT3 Hs.655105 1848417;2145862 D14S857;G36014 C14orf156;DC50;PD04872 OTTHUMP00000246303;OTTHUMP00000246304;OTTHUMP00000246305;OTTHUMP00000246306;OTTHUMP00000246308;SRA stem-loop-interacting RNA-binding protein, mitochondrial APPROVED protein-coding ENSG00000119705 HGNC:20495 12639 610211 VALIDATED 1322151 SLITRK5 SLIT and NTRK-like family, member 5 Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008] 13 13 13 q31.2 69166179 69173176 + 88323931 88331871 + 87671034 87679616 + 1580863;6480464 10048485;12477932;14550773;14557068;14702039;15057823;15489334;16212419 26050 O94991 AB020725;ABBA01027272;AK024251;AK299744;AL603883;AMYH02028424;AW449813;AX883759;BC098106;BC098287;BC103497;BC103509;CH471085;NM_015567;XM_005254038;XM_005254039 AAH98106;AAH98287;AAI03510;BAA74941;BAG51280;BAG61637;CAE92099;EAX08917;NP_056382;O94991;XP_005254095;XP_005254096 Hs.591208 1673747;1700706;2109859 RH103976;SHGC-57840;SLITRK5_9452 FLJ58374;KIAA0918;LRRC11;bA364G4.2 OTTHUMP00000018547;SLIT and NTRK-like protein 5;leucine rich repeat containing 11;leucine-rich repeat-containing protein 11;slit and trk like gene 5 APPROVED protein-coding HGNC:20295 18065 609680 VALIDATED 1321448 SLITRK3 SLIT and NTRK-like family, member 3 Members of the SLITRK family, such as SLITRK3, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK3, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008] 3 3 3 q26.1 163303200 163313157 - 164902010 164914469 - 165184222 165196681 - 1580863;6480464;8554872 10048485;12477932;14550773;14557068;19336002;20237496 22865 C9K0R4;O94933 AB020655;ABBA01058751;AC013458;AK290024;AMYH02008062;BC040491;BC114621;CH471052;NM_014926;XM_005247230 AAI14622;BAA74871;BAF82713;EAW78599;NP_055741;O94933;XP_005247287 Hs.101745 KIAA0848;MGC138681 OTTHUMP00000212596;OTTHUMP00000212598;SLIT and NTRK-like protein 3;slit and trk like gene 3 APPROVED protein-coding ENSG00000121871 HGNC:23501 18064 609679 VALIDATED 1348582 SLITRK4 SLIT and NTRK-like family, member 4 This gene encodes a transmembrane protein belonging to the the SLITRK family. These family members include two N-terminal leucine-rich repeat domains similar to those found in the axonal growth-controlling protein SLIT, as well as C-terminal regions similar to neurotrophin receptors. Studies of an homologous protein in mouse suggest that this family member functions to suppress neurite outgrowth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X X q27.3 142997864 143011197 - 142710595 142723926 - 143622790 143636107 - 737633;1580863;6480464;8554872 12477932 14550773;14557068;14702039;15489334;16344560;20934677;21812955;23503679 139065 B2RCC8;Q8IW52 ABBA01066405;ABBA01066406;ABBA01066407;AC239921;AI286228;AK057619;AK092016;AK315044;AL080239;AL713693;AMYH02040695;AX497190;BC040986;CH471170;DA774595;DA802760;NG_021344;NM_001184749;NM_001184750;NM_173078;XM_005262365 AAH40986;ADZ15615;BAB71535;BAG37525;CAD28493;CAD48655;CAI41650;EAW78020;NP_001171678;NP_001171679;NP_775101;Q8IW52;XP_005262422 Hs.272284 2106627;2134711 RH15938;SLITRK4__5446 DKFZp547M2010 OTTHUMP00000024187;OTTHUMP00000024188;SLIT and NTRK-like protein 4;slit and trk like gene 4 APPROVED protein-coding ENSG00000179542 HGNC:23502 06486 300562 REVIEWED 1315229 SLITRK6 SLIT and NTRK-like family, member 6 Members of the SLITRK family, such as SLITRK6, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK6, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008] 13 13 13 q31.1 67280318 67286879 - 86366922 86373483 - 85792787 85799348 - 1580863;6480464;8699517;7240710;8554872 11076863;11230166;12477932;14557068;14702039;15057823;15489334;15489336;16381901;23326512;23543054;23946138 84189 Q9H5Y7 ABBA01012309;AK021931;AK026427;AK292793;AL137517;AL162373;AMYH02028405;BC101070;BC101071;BC101072;BC101073;BQ772084;BX648640;CD687435;CH471093;CQ860409;CQ860411;CQ860417;CQ861063;FB326355;JC341885;JC341887;JC341893;NM_032229 AAI01071;AAI01072;AAI01073;AAI01074;BAB13941;BAB15480;BAF85482;CAB70783;CAH10557;CAH25964;CAH68812;CAH68813;CAH68816;CAL38445;CAR82286;CDM63570;CDM63571;CDM63574;EAW80611;NP_115605;Q9H5Y7 Hs.525105 2184699;5017765 RH70006;SLITRK6 DFNMYP;MGC119595;MGC119596;MGC119597 4832410J21Rik;OTTHUMP00000218559;SLIT and NTRK-like protein 6;slit and trk like gene 6 APPROVED protein-coding ENSG00000184564 HGNC:23503 15403 221200;609681 VALIDATED 7264881 SLMO2P1 slowmo homolog 2 (Drosophila) pseudogene 1 1 1 1 q41 193860454 193861345 + 220641296 220641800 + 220467954 220468458 + 100129664 ABBA01048078;AC096644;AMYH02002732;NG_030211 pseudo HGNC:49063 INFERRED 1345443 SLMO2 slowmo homolog 2 (Drosophila) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cyclosporin A; methotrexate; mitoxantrone 20 20 20 q13.32 54348621 54358322 - 57608200 57617901 - 59033145 59042846 - 6480464;8554872 10810093;11780052;12477932;14702039;15489334;19322201;20877624;21963094;22423221;24250222 51012 E9PL81;Q9Y3B1 ABBA01005967;AF151865;AK002157;AK298135;AK314449;AL109840;AMYH02037379;BC010649;BC013969;CH471077;CO248221;NM_001256403;NM_016045 AAD34102;AAH10649;AAH13969;ADZ15804;BAA92114;BAG60414;EAW75442;EAW75443;NP_001243332;NP_057129;Q9Y3B1 Hs.656865 1644487;1657577;1663818;2086358 REN114435;RH12018;RH78170;STS-R77463 C20orf45;PRELID3B;dJ543J19.5 OTTHUMP00000031406;OTTHUMP00000031407;chromosome 20 open reading frame 45;protein slowmo homolog 2 protein-coding ENSG00000101166 HGNC:15892 12771 VALIDATED 733761 SLK STE20-like kinase ENCODES a protein that exhibits identical protein binding; protein homodimerization activity; protein serine/threonine kinase activity; INVOLVED IN protein autophosphorylation; ASSOCIATED WITH Reperfusion Injury (ortholog); FOUND IN extracellular vesicular exosome; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 10 10 10 q24.33 99468053 99527925 + 105726943 105788991 + 103967185 104029233 + 2304069;6480464;8554872 12965890 10611247;10699464;11149944;11316611;12421765;12477932;12938929;14531806;15164054;15489334;16385451;16837460;17081983;17321610;18029348;18239682;18287541;19056867;19525980;19615732;21139048;21460842;21906983;22863883;22939629;23209304;23382044;23985322;24322982;24816145;24958772;3526554;9039502 9748 Q9H2G2 AB002804;ABBA01063087;AF273048;AK302855;AK307389;AL138761;AL360170;AMYH02023732;AMYH02023733;BC008697;BC036736;BC047762;BC047885;BC064804;BC111565;CH471066;D86959;EF139853;FB775502;NM_014720;XM_005270301 AAG34908;AAH47762;AAH47885;AAH64804;AAI11566;BAA13195;BAA19655;BAG64041;CAV30708;EAW49615;EAW49616;EAW49617;EAW49618;NP_055535;Q9H2G2;XP_005270358 Hs.591922 1663038;1683060;2108933 D10S2248;RH25417;SLK_8987 KIAA0204;LOSK;MGC133067;STK2;bA16H23.1;hSLK;se20-9 CTCL tumor antigen se20-9;Long Ste20-like Kinase;OTTHUMP00000020425;OTTHUMP00000020426;SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase;SNF1 sucrose nonfermenting like kinase;STE20-like serine/threonine-protein kinase;STE20-related kinase;STE20-related serine/threonine-protein kinase;Ste20-related serine/threonine kinase;serine/threonine kinase 2;serine/threonine-protein kinase 2 APPROVED protein-coding ENSG00000065613 HGNC:11088 11585 PROVISIONAL 8548238 SLMO2P11 slowmo homolog 2 (Drosophila) pseudogene 11 9 6726269 6735076 - 102723314 AL354707;AMYH02019099;AMYH02019100;AMYH02019101 pseudo HGNC:49073 MODEL 733021 SLIT2 slit homolog 2 (Drosophila) ENCODES a protein that exhibits GTPase inhibitor activity; heparin binding; identical protein binding; INVOLVED IN apoptotic process involved in luteolysis; axon extension involved in axon guidance; axon guidance; PARTICIPATES IN glypican signaling pathway; ASSOCIATED WITH Anti-Glomerular Basement Membrane Disease (ortholog); Spinal Cord Injuries (ortholog); FOUND IN cell surface; cytoplasm; extracellular space; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 4 4 4 p15.2 20712350 21077291 + 20254566 20622184 + 20252943 20620561 + 634084;1580863;2316127;2316132;6480464;6484113;8554872 15215188;19783284;9813312 10102266;10102268;10102269;10197527;10349621;10364234;10432110;10575218;10864954;10892742;10975526;11222645;11239147;11309622;11375980;11404413;11748139;12141424;12200164;12384551;12477932;12615722;12881718;12941633;14645233;14702039;15130495;15207848;15489334;16162649;16439689;16636676;16840550;17062560;17268810;17314511;17448996;17496152;17609981;17848514;17903301;17968499;18269211;18345009;18566128;18611862;18829537;18985028;19005219;19033678;19048120;19056867;19100240;19350278;19351956;19498462;19550140;19706539;19759280;19851296;19855388;19913121;20008733;20029409;20068157;20153733;20198315;20375003;20379614;20438712;20628086;20944010;21264840;21283129;21349947;21385904;21465248;21627385;21686327;21857494;21894562;21986575;22011669;22198087;22241990;22315090;22532293;22613430;22719878;22826604;22865890;22875847;22898079;23119100;23294842;23314748;23314850;23333304;23381221;23671423;23694962;23702092;23933755;24272999;24287947;24297051;24448236;24673457;24840330 9353 E9PCX4;F5H0U4;H0Y968;H0Y9Z6;O94813;X6R3P0 AA489463;AB017168;ABBA01032641;ABBA01032642;ABBA01032643;ABBA01032644;ABBA01032645;AC021118;AC092577;AC096718;AC108011;AF055585;AF133270;AK027326;AK126459;AK308444;AMYH02008851;AMYH02008852;AMYH02008853;BC117190;BC143978;BF112143;BI494498;BM474839;CH471069;CV370469;DB207352;NM_001289135;NM_001289136;NM_004787;XM_005248211;XM_005248214;XM_006713986 AAD04309;AAD25539;AAI17191;AAI43979;AAY41008;AAY41010;BAA35185;BAG51304;EAW92792;EAW92793;NP_001276064;NP_001276065;NP_004778;O94813;XP_005248268;XP_005248271;XP_006714049 Hs.29802 1644109;1645746;1645766;1650468;1651831;1651833;1659160;1662187;1666582;1670202;1683361;1698226;1765815;1766051;2113760;2115585;2128228;2149203;2151447;2163192;2167515 D4S1063;D4S1372;D4S2611;D4S2742;D4S279;D4S3124;D4S331;D4S544;G34103;G34229;RH102649;SHGC-149242;SHGC-149436;SHGC-24805;SHGC-50557;SHGC-50605;SHGC-50719;SHGC-51362;SHGC-67708;SLIT2;STS-R78732 FLJ14420;SLIL3;Slit-2 OTTHUMP00000158695;OTTHUMP00000217852;OTTHUMP00000217853;OTTHUMP00000217854;slit homolog 2 protein protein-coding ENSG00000145147 HGNC:11086 04776 603746 VALIDATED 1350976 SLPI secretory leukocyte peptidase inhibitor This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes; the protein is also thought to have broad-spectrum anti-biotic activity. [provided by RefSeq, Jul 2008] 20 20 20 q12 40589481 40591808 - 43880880 43883205 - 45252239 45254564 - 1580863;6480464 10355635;10548568;10598905;10702419;10704052;10799472;10833481;10869562;11170993;11435427;11667971;11759111;11780052;11817677;11868825;11912282;12023766;12023969;12183536;12206714;12351521;12355371;12392704;12477932;12526812;12732717;12759437;12819058;12874244;12934194;15015603;15020232;15039315;15039364;15155685;15167969;15248236;15315966;15489334;15492784;15650263;15812165;15858026;16015083;16355004;16384861;1674946;16776851;16928883;17371258;17878156;17964057;18075823;18173453;18285402;18425362;18667508;18688858;18953959;18976018;19039956;19095674;19154415;19199708;19254589;19271144;19333378;19900269;20047904;20068074;20378727;2039600;21077989;2110563;21335488;21377455;21503571;21641406;21676452;21687932;21940052;22493362;22537232;22786767;23996702;24073410;24282288;24352879;3060147;3366116;3462719;3485543;3533531;3640338;7515550;7539415;8573092;9456660;9843921 6590 P03973;Q6LDI0 ABBA01052657;AF114471;AK312192;AL035660;AMYH02037148;AX772818;BC020708;CH471077;CS106326;CS566122;GN341838;M74444;NG_028137;NM_003064;X04470;X04502;X04503 AAA60559;AAD19661;AAH20708;ABM82291;ABM85471;BAG35125;CAA28158;CAA28187;CAA28188;CAE06258;CAJ01313;CAN37611;CAY39338;EAW75869;NP_003055;P03973 Hs.517070 1709740;1734998;1795034;2181125 D20S523E;D20S726;PMC88765P1;SHGC-84681 ALK1;ALP;BLPI;HUSI;HUSI-1;HUSI-I;MPI;WAP4;WFDC4 OTTHUMP00000031775;WAP four-disulfide core domain 4;WAP four-disulfide core domain protein 4;antileukoproteinase;mucus proteinase inhibitor;protease inhibitor WAP4;secretory leukocyte protease inhibitor (antileukoproteinase);seminal proteinase inhibitor APPROVED protein-coding ENSG00000124107 HGNC:11092 00121 107285 REVIEWED 1605637 SLTM SAFB-like, transcription modulator ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN apoptotic process (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; bleomycin A5; celastrol 15 15 15 q22.1 36059189 36113796 - 59171244 59226323 - 58879045 58934124 - 6480464;8554872 12477932;14702039;15840729;18029348;18781797;19086053;19471022;20811636;21139048;21182207;22586326;22939629;23000965;24250222;24457600;24816145 79811 H0YKH2;H0YKU6;H0YL55;H0YLE6;H0YLW7;H0YMM0;H0YMR6;H0YMW8;H0YNF3;H7BXE3;H7C3F4;Q9NWH9 ABBA01038976;ABBA01038977;AC025918;AC090515;AI215187;AI745094;AK000867;AK023275;AK024710;AK055195;AK131242;AK291423;AL834297;AMYH02030535;AMYH02030536;AW205376;AX961946;BC014944;BC040120;BC046119;BC108656;BC140851;CD688133;CH471082;CQ859780;NM_001013843;NM_024755;XM_005254669;XM_006720685;XM_006720686;XM_006720687;XM_006720688;XM_006720689;XM_006720690;XR_243128 AAH14944;AAH46119;AAI08657;AAI40852;BAA91401;BAB14502;BAB14971;BAF84112;BAG51484;CAF06482;CAH25940;CAH56362;EAW77550;EAW77551;EAW77552;EAW77553;NP_001013865;NP_079031;Q9NWH9;XP_005254726;XP_006720748;XP_006720749;XP_006720750;XP_006720751;XP_006720752;XP_006720753 Hs.512932 1650025;1699556;1705970;1847854;1851292;2124469 RH103377;RH67863;RH77794;SHGC-79695;STS-H56197;WI-22631 DKFZp762G052;FLJ10005;FLJ13213;Met OTTHUMP00000082628;OTTHUMP00000082630;SAFB-like transcription modulator;modulator of estrogen induced transcription;modulator of estrogen-induced transcription protein-coding ENSG00000137776 HGNC:20709 07819 VALIDATED 7271444 SLMO2P3 slowmo homolog 2 (Drosophila) pseudogene 3 17 17 17 q23.2 55306686 55307219 + 60918462 60918995 + 62841101 62841634 + 100128712 ABBA01035337;AC068512;AMYH02033768;NG_022473 pseudo HGNC:49065 INFERRED 1606825 SLU7 SLU7 splicing factor homolog (S. cerevisiae) Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. [provided by RefSeq, Jul 2008] 5 5 5 q33.3 155861110 155878652 - 159828648 159846168 - 160401641 160419161 - 6480464;6907045 10197984;10647016;11238888;11991638;12477932;15181151;15728250;16159877;16189514;16344560;17804646;18029348;18662664;18854154;19369195;19946888;21122810;21693764;21890473;21906983;21963094;22365833;22505724;22939629;23455924;23754748;24250222;24816145;24865429 10569 E5RGM7;E5RK41;O95391 ABBA01044218;ABBA01044219;AC091842;AF101074;AK000813;AK024875;AK314564;AMYH02012605;AY486334;BC010634;BE221264;CA976106;CH471062;DA232975;DA409854;DQ174516;DQ174517;NM_006425;XM_005265793 AAD13774;AAH10634;AAS59410;ABA08382;ABA08383;ABM81963;ABM85142;BAG37147;EAW61554;EAW61555;EAW61556;NP_006416;O95391;XP_005265850 Hs.435342 1644181;1723707;1735478;1794516;5022200;5037552 D5S1599E;D5S2666;D8S2279;L18426;PMC316594P1;RH121435 9G8;MGC9280;hSlu7 OTTHUMP00000160841;pre-mRNA-splicing factor SLU7;splicing factor;step II splicing factor SLU7;zinc knuckle motif containing APPROVED protein-coding ENSG00000164609 HGNC:16939 12074 605974 REVIEWED 1346067 SLURP1 secreted LY6/PLAUR domain containing 1 The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 140133424 140134891 - 143822362 143823829 - 142740944 142742411 - 1599051;1580863;6480464;7240710;8554872;8699517 11285253 10211827;12477932;12483299;12603845;12787122;14506129;14674887;14721776;14756676;15489334;15909066;16354194;17643396;18764860;19692209;20237496;20337899;20621062;20660165;20854438;22369755;23290002;23876317;24093092;8742060;9887370 57152 P55000 ABBA01005289;AC083841;AMYH02018926;AY579079;AY579080;BC069292;BC105133;BC105135;CH471162;NG_011494;NM_020427;X99977 AAH69292;AAI05134;AAI05136;AAT01436;AAT01437;CAA68237;EAW82308;NP_065160;P55000 Hs.103505;Hs.676358 1339060;1778567;5492951;5494017 D8S1751;RH70955;UniSTS:480733;UniSTS:483339 ANUP;ARS;ArsB;LY6LS;MDM ARS(component B)-81/S;OTTHUMP00000227216;SLURP-1;anti-neoplastic urinary protein;lymphocyte antigen 6-like secreted;secreted Ly-6/uPAR-related protein 1;secreted Ly6/uPAR related protein 1 APPROVED protein-coding ENSG00000126233 HGNC:18746 05836 248300;606119 REVIEWED 1313124 SLN sarcolipin Sarcoplasmic reticulum Ca(2+)-ATPases are transmembrane proteins that catalyze the ATP-dependent transport of Ca(2+) from the cytosol into the lumen of the sarcoplasmic reticulum in muscle cells. This gene encodes a small proteolipid that regulates several sarcoplasmic reticulum Ca(2+)-ATPases. The transmembrane protein interacts with Ca(2+)-ATPases and reduces the accumulation of Ca(2+) in the sarcoplasmic reticulum without affecting the rate of ATP hydrolysis. [provided by RefSeq, Jul 2008] 11 11 11 q22.3 104732928 104737614 - 107578101 107582787 - 107707375 107712061 - 1580863;6480464 11772399;11781085;12032137;12477932;12645548;12692302;15342556;17010328;17515962;19913121;20628086;21640081;23362265;24358354;8681137;9367679;9575189 6588 O00631 ABBA01039879;AK312097;AMYH02025533;AP002353;BC005261;BC094685;BC104150;BC104185;BC113930;BC113987;BP233121;CH471065;CR450290;F30315;NM_003063;U96093;U96094 AAB86980;AAB86981;AAH05261;AAH94685;AAI04151;AAI04186;AAI13931;AAI13988;BAG35033;CAG29286;EAW67094;NP_003054;O00631 Hs.334629 1665622;1719095;2129649;2218030 RH123265;RH41839;SLN_3870;WI-11530 MGC12301;MGC125854;MGC125855 APPROVED protein-coding ENSG00000170290 HGNC:11089 03729 602203 REVIEWED 1344547 SLITRK2 SLIT and NTRK-like family, member 2 This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively spliced transcript variants encoding the same protein have been described.[provided by RefSeq, Feb 2010] X X X q27.3 145211704 145219715 + 144899347 144907360 + 145817829 145825842 + 1580863;6480464 11347906;12477932;12975309;14557068;14702039;15489334;15772651;16344560;19488044;20237496;20479760;8889548 84631 B3KTY4;Q9H156 AB058757;ABBA01054370;ABBA01054371;AK091015;AK096278;AK289732;AL109653;AMYH02040716;AX497180;BC113011;BC113012;BM669862;CH471175;CR627412;DA184412;DA234617;DA239165;DA332123;DA411897;DA412276;DA496247;NG_016477;NM_001144003;NM_001144004;NM_001144005;NM_001144006;NM_001144008;NM_001144009;NM_001144010;NM_032539;XM_005262342;XM_005262343;XM_005262344;XM_005262345;XM_005262346;Y19205 AAI13012;AAI13013;BAB47483;BAC03566;BAF82421;BAG53246;CAC80724;CAD48652;CAH10501;EAW53953;EAW53954;NP_001137475;NP_001137476;NP_001137477;NP_001137478;NP_001137480;NP_001137481;NP_001137482;NP_115928;Q9H156;XP_005262399;XP_005262400;XP_005262401;XP_005262402;XP_005262403 Hs.320368 1653012;2220302 AB063047;RH18200 CXorf2;DKFZp451E1911;KIAA1854;MGC129912;MGC129913;SLITL1 OTTHUMP00000024190;OTTHUMP00000024191;SLIT and NTRK-like protein 2;slit and trk like gene 2;slit-like 1 APPROVED protein-coding HGNC:13449 06603 300561 REVIEWED 1603444 SLX1A SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae) This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) gene. [provided by RefSeq, Nov 2010] 16 16 16 p11.2 476 4142 - 30205164 30208887 + 30193843 30197566 + 6480464 12107412;12477932;15358107;15489334;19595721;19595722;19596235;19596236;21988832;23093618;24012755;24076221 548593 H3BPC3;Q9BQ83 ABBA01013099;AC106782;AC133555;AC244227;AI885276;BC144462;BI757439;CD673028;NM_001014999;NM_001015000 AAI41498;AAI44463;AAI48778;NP_001014999;NP_001015000;Q9BQ83 Hs.729791 1788776;5112303 RH103211;RH133600 GIYD1;GIYD2;SLX1B GIY-YIG domain containing 1;GIY-YIG domain-containing protein 1;OTTHUMP00000045748;structure-specific endonuclease subunit SLX1 APPROVED protein-coding ENSG00000132207 HGNC:20922 18681 615822 REVIEWED 1604303 SLX1B SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) gene. [provided by RefSeq, Nov 2010] 16 16 16 p11.2 476 4142 - 29465822 29469545 + 29454501 29458224 + 6480464 12477932;15358107;19595721;19595722;19596235;19596236;21988832;24012755;8125298 79008 H3BRR6;Q9BQ83 AC133555;AC245044;AK027092;AK225436;BC000754;BC000803;BC015990;BC019306;BC069007;BC130545;BC130547;NM_024044;NM_178044 AAH00754;AAH00803;AAH15990;AAH19306;AAH69007;AAI30546;AAI30548;BAB15654;NP_076949;NP_835145;Q9BQ83 Hs.728161 1788776;5112303 RH103211;RH133600 FLJ23439;GIYD1;GIYD2;MGC2532;MGC5178;SLX1A GIY-YIG domain containing 2;GIY-YIG domain-containing protein 1;OTTHUMP00000162987;OTTHUMP00000162988;structure-specific endonuclease subunit SLX1 APPROVED protein-coding ENSG00000181625 HGNC:28748 14673 615823 REVIEWED 7243348 SLX1B-SULT1A4 SLX1B-SULT1A4 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring SLX1B (SLX1 structure-specific endonuclease subunit homolog B) and SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1A and SULT1A3 genes located ~730 kb downstream on the same chromosome. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Nov 2010] 16 16 p 29466412 29476301 + 29455091 29464980 + 15358107;20967262 100526831 AC133555;AC245044;NR_037609 Hs.744871 ncrna HGNC:48353 VALIDATED 1352856 SLX4IP SLX4 interacting protein INTERACTS WITH (-)-epigallocatechin 3-gallate; amiodarone; benzo[a]pyrene 20 20 20 p12.2 10485945 10674022 + 10415951 10604551 + 10435303 10623903 + 6480464 12477932;19394292;19596235;20379614;21555518;22902628;24250222;24412650 128710 H0YD23;Q5VYV7 ABBA01053932;ABBA01053933;ABBA01053934;ABBA01053935;ABBA01053936;AL034430;AL035456;AL133340;AL353599;AMYH02036698;BC020787;BC026094;CH471133;NM_001009608;XM_005260664 AAH20787;AAH26094;EAX10342;NP_001009608;Q5VYV7;XP_005260721 Hs.668782 1338698;1693382;1693400;1704842;1704844;1734186;1753403;2177683;2182737;5021880;5093398 A009N48;AL034503;AL034512;D20S160;D20S507;G32695;SHGC-107167;SHGC-58236;SHGC-79893;SHGC-79896;ha2028 C20orf94;bA204H22.1;bA254M13.1;dJ1099D15.3 OTTHUMP00000030279;SLX4-interacting protein;UPF0492 protein C20orf94;hypothetical protein LOC128710 APPROVED protein-coding HGNC:16225 12516 615958 VALIDATED 1606824 SMA3 SMA3 ENCODES a protein that exhibits hydrolase activity, hydrolyzing O-glycosyl compounds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); nervous system development (inferred); skeletal system development (inferred); ASSOCIATED WITH Spinal Muscular Atrophies of Childhood (inferred); Spinal muscular atrophy 4 (inferred) q13 7240710 12477932;14702039;7977382 10571 Q15486 AC108108;AC131392;AC138827;AC139277;AC140134;AK094021;AL009030;BC002622;BC050737;NM_006780;X83299 AAH50737;ABM82829;CAA58278;CAC69829;CAC69830;NP_006771;Q15486 Hs.654587 FLJ36702;b55C20.2 protein-coding 10240 253300;253400;253550;271150 1605402 SMA5 glucuronidase, beta pseudogene INTERACTS WITH aflatoxin B1; cadmium atom; elemental selenium 5 5 q13 69776870 69881549 - 70481043 70585722 - 6480464 12477932;7680524;7977382;8565635 11042 AC108108;AC138827;AC146944;AK289851;BC070286;NR_034021;X83301 BAF82540;CAA58280 Hs.529793;Hs.652536 1721607;5017352 G59813;WI-19224 pseudo 18067 VALIDATED 1345916 SMA@ spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease) 7813012 6592 HGNC:11096 1315398 SLMO1 slowmo homolog 1 (Drosophila) FOUND IN mitochondrion (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; hydrogen peroxide 18 18 18 p11.21 12288649 12313115 + 12407895 12432237 + 12407896 12432238 + 737633;6480464 12477932 14702039;16344560;20877624;24250222 10650 K7ELB4;K7ENN4;K7EP78;K7EPM9;K7EQM5;Q96N28 ABBA01074018;ABBA01074019;ABBA01074020;AF048849;AK056046;AK303325;AL359942;AMYH02034330;AMYH02034331;AMYH02034332;AP001029;BC007528;BC106750;BT007092;CA446199;CH471113;CR627465;DB018070;EF444975;NM_001142405;NM_006553 AAC05143;AAI06751;AAP35755;ACA05988;BAB71083;BAG64391;CAB95773;CAH10669;EAX01547;EAX01548;EAX01549;EAX01550;NP_001135877;NP_006544;Q96N28 Hs.514718 2142060 G30968 C18orf43;DKFZp547K106;FLJ31484;HFL-EDDG1;MGC120170;PRELID3A OTTHUMP00000162475;chromosome 18 open reading frame 43;erythroid differentiation and denucleation factor 1;protein slowmo homolog 1 protein-coding ENSG00000141391 HGNC:24639 09981 VALIDATED 6908696 SLX1A-SULT1A3 SLX1A-SULT1A3 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring SLX1A (SLX1 structure-specific endonuclease subunit homolog A) and SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1B and SULT1A4 genes located ~730 kb upstream on the same chromosome. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Nov 2010] 16 16 p 30205754 30215650 + 30194433 30204329 + 6480464 12477932;14702039;15358107;20967262;7695643 100526830 ABBA01013099;AC106782;AC244227;AK094769;AK097386;AK122707;AK122733;BC014471;BC071688;BC111011;NR_037608;X84653 AAH14471;AAI11012;BAC85507;BAG52926;BAG53679;CAA59146 Hs.460558 1676706;1685391;1744201;1745599;1745601;5037552;5117514;5117558 D8S2279;GDB:435498;GDB:574035;GDB:579633;GDB:626005;GDB:626032;RH69023;RH80591 APPROVED ncrna HGNC:44437 VALIDATED 1317000 SLMAP sarcolemma associated protein ENCODES a protein that exhibits unfolded protein binding (inferred); INVOLVED IN muscle contraction (inferred); protein folding (inferred); FOUND IN cytoskeleton (inferred); integral component of membrane (inferred); integral component of plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-nitropyrene; atrazine 3 3 3 p21.2-p14.3 57757094 57928809 + 57741948 57915597 + 57756221 57929965 + 6480464 10986292;10997877;11042152;12477932;12975309;14702039;15489334;17081983;17353931;18029348;18782753;19156129;19615732;20301690;23064965;23251661;23277359;23455922;24255178;9405447 7871 B7Z863;B7Z964;C9JA20;C9JCH4;H7BZK0;H7BZW9;H7C3M8;H7C5G9;H7C5S2;Q14BN4 AB046821;ABBA01024399;ABBA01024400;ABBA01024401;ABBA01024402;ABBA01024403;ABBA01024404;AC099777;AC114480;AF100750;AF304450;AK022561;AK124200;AK300106;AK302934;AK304493;AK316436;AL834538;AMYH02006875;AMYH02006876;AMYH02006877;AMYH02006878;AMYH02006879;AMYH02006880;AMYH02006881;AMYH02006882;AY358410;BC114627;BC115701;CH471055;CR627321;NM_007159;XM_005265456;XM_005265457;XM_005265458;XM_005265459;XM_005265460;XM_005265461;XM_005265462;XM_005265463;XM_005265464;XM_005265465;XM_005265466;XM_005265467;XM_005265468;XM_005265469;XM_005265470;XM_005265471;XM_005265472;XM_006713326;XR_427291;XR_427292 AAD43014;AAG41949;AAI14628;AAI15702;AAQ88776;BAB13427;BAC85803;BAH13213;BAH13849;BAH14200;BAH14807;CAD39194;CAH10369;EAW65347;EAW65348;EAW65349;EAW65350;NP_009090;Q14BN4;XP_005265513;XP_005265514;XP_005265515;XP_005265516;XP_005265517;XP_005265518;XP_005265519;XP_005265520;XP_005265521;XP_005265522;XP_005265523;XP_005265524;XP_005265525;XP_005265526;XP_005265527;XP_005265528;XP_005265529;XP_006713389 Hs.476432 1652347;1652920;1669829;1673069;1680567;2111892;2161711;2173086;2190529;2191275 D3S4053;D3S4071;EST17C8;G16530;MARC_17013-17014:1023291181:1;RH45625;RH47974;RH98947;STS-N21213;WI-13681 FLJ42206;KIAA1601;MGC138760;MGC138761;SLAP OTTHUMP00000165233;OTTHUMP00000213197;OTTHUMP00000213198;Sarcolemmal-associated protein;sarcolemmal membrane-associated protein protein-coding ENSG00000163681 HGNC:16643 04079 602701 VALIDATED 1605403 SMA4 glucuronidase, beta pseudogene ASSOCIATED WITH Spinal Muscular Atrophies of Childhood (inferred); Spinal muscular atrophy 4 (inferred); INTERACTS WITH crotonaldehyde; formaldehyde; methyl methanesulfonate 5 5 q13.2 69434689 69586004 - 70127462 70290177 - 7240710;6480464 12477932;14702039;15372022;15489334;7894161;7977382 11039 AC108108;AC118459;AC138866;AC139494;AC139500;AC140134;AC146949;AC243922;AC244260;AK094021;AK097091;AK289832;AK315849;BC067830;BC131740;NR_024054;NR_029426;X75940;X83300 AAI40017;AAI40018;ABM82829;ABM84660;ABM86015;BAF82521;BAF98740;CAA58279 Hs.582500;Hs.652536;Hs.654588 1721607;5017352;5020885;5021872;5022578;5118506;5120506;7183868 D11S3374;D1S1423;D5F153S1;D5S1709;G59813;L17791;WI-19224;sY3084 FLJ36702;FLJ39772;MGC22265;MGC60382;SMA3;b55C20.2 pseudo 15404 253300;253400;253550;271150 VALIDATED 7395226 SMAD1-AS2 SMAD1 antisense RNA 2 4 4 q31.21 146418230 146424482 - 145497049 145502980 - 12477932 101927659 ABBA01070030;AC093796;AMYH02010255;AW103823;BC042377;BX098661;HY049088;NR_108077 Hs.519005 ncrna ENSG00000250582 HGNC:49381 VALIDATED 1347724 SLX4 SLX4 structure-specific endonuclease subunit This gene encodes a structure-specific endonuclease subunit. The encoded protein contains a central BTB domain and it forms a multiprotein complex with the ERCC4(XPF)-ERCC1, MUS81-EME1, and SLX1 endonucleases, and also associates with MSH2/MSH3 mismatch repair complex, telomere binding complex TERF2(TRF2)-TERF2IP(RAP1), the protein kinase PLK1 and the uncharacterized protein C20orf94. The multiprotein complex is required for repair of specific types of DNA lesions and is critical for cellular responses to replication fork failure. The encoded protein acts as a docking platform for the assembly of multiple structure-specific endonucleases.[provided by RefSeq, Jan 2011] 16 16 16 p13.3 3837948 3868351 - 3631182 3661585 - 3581181 3611584 - 6480464;8699517;7240710;8554872 11347906;11853319;12477932;14702039;15489334;15616553;19394292;19471022;19595721;19595722;19596235;19596236;20301575;20360068;21139048;21240275;21240277;21693764;21805310;21832049;21890473;21906983;22383991;22401137;22902628;22907656;22911665;23093618;23211700;23994477;24012755;24076221;24080495;24250222;24412650;24794496 84464 Q8IY92 AB058687;AB075867;ABBA01026743;ABBA01026744;AC006111;AK095411;AK122775;AL442083;AMYH02031295;BC029952;BC036335;BC104222;BC104223;BC112989;BC112990;BE887716;BM541728;CH471112;NG_028123;NM_032444 BAB47413;BAB85573;CAH10659;EAW85345;EAW85346;EAW85347;NP_115820;Q8IY92 Hs.143681 1688134;1756173;2157609;5022200;5022578;5022651;5037552 AFMa217xh1;D11S2921;D1S1423;D8S2279;L18426;RH92116;SHGC-143024 BTBD12;FANCP;KIAA1784;KIAA1987;MUS312 BTB (POZ) domain containing 12;BTB/POZ domain-containing protein 12;Fanconi anemia, complementation group P;OTTHUMP00000082733;SLX4 structure-specific endonuclease subunit homolog;structure-specific endonuclease subunit SLX4 APPROVED protein-coding ENSG00000188827 HGNC:23845 12537 613278;613951 REVIEWED 1602897 SMAD5-AS1 SMAD5 antisense RNA 1 INVOLVED IN signal transduction (inferred); INTERACTS WITH elemental selenium; selenium atom 5 5 5 q31.1 131589942 131595319 - 135465202 135470579 - 136129513 136134890 - 6480464 10049768 9597 Q9Y6J3 ABBA01068719;AC009014;AF071111;AF086556;AMYH02012261;CH471062;NG_032037;NR_026763 AAD20804;EAW62197;Q9Y6J3 Hs.59666 DAMS;SMAD5AS;SMAD5OS APPROVED ncrna ENSG00000164621 HGNC:30586 09904 VALIDATED 1349958 SMAD5 SMAD family member 5 The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 5 5 5 q31 131593276 131643157 + 135468536 135518422 + 136132847 136182734 + 1580755;1580077;1580863;2299978;6480464;6484113;6907045 16361357;17967875;9264367 10049768;10400677;10504300;10531362;10583507;10647776;10652350;10708948;10708949;11121043;11163184;11278251;11278410;11451566;11451570;12060751;12064918;12370310;12473652;12477932;12649288;12714599;12849988;12857866;14670176;14699069;14702039;15009097;15107829;15221015;15231748;15246821;15489334;15621726;15647271;15877825;16087734;16243555;16247476;16436528;16516194;16613856;17081983;17133595;17207965;17251190;17356069;17359969;17676934;17847004;18298822;18310319;18393632;18425117;18641638;18684712;18729074;18775991;19018011;19211612;19244313;19247629;19269967;19322201;19819941;19914168;20148926;20484049;20522807;20734064;21139048;21454478;21890473;21900206;21945631;22013049;22452883;22505724;22670624;22897816;22939629;22964636;22966907;23384547;23387849;23455153;23804438;23891815;23918166;24008158;24021264;24163009;24163370;24223191;24339730;24449884;24518599;24654937;24821572;24828823;24928394;8673135;9288787;9436979;9442019;9484787;9748228;9759503 4090 D6R9D4;D6RBB4;D6RIZ9;F5GWU7;H0YAK7;H0YAM3;Q68DB7;Q99717 ABBA01068719;AC009014;AF009678;AF009744;AF009745;AF010601;AF010607;AF071106;AF071107;AF071108;AF071109;AF071110;AK001036;AK055211;AK311231;AK313397;AMYH02012261;BC009682;BK001394;BX510058;BX646699;BX648328;CH471062;CR457424;CR749366;CR749473;KF573707;NG_032037;NM_001001419;NM_001001420;NM_005903;U59913;U73825 AAB66353;AAB72180;AAB82655;AAB92396;AAB95090;AAC50791;AAD20799;AAD20800;AAD20801;AAD20802;AAD20803;AAH09682;ADQ32752;BAG36195;CAG33705;CAH18219;CAH18303;EAW62194;EAW62195;EAW62196;NP_001001419;NP_001001420;NP_005894;Q99717 Hs.167700 1654007;1780654;1797836;1848205;2113632;2118787;2138375;2158549;2169081;5024756;5093334;5094945 A009L33;G32658;MADH5_2355;RH17543;RH44658;RH65479;RH80030;SGC34305;SMAD5;UniSTS:478946;WIAF-2102;bac51515S DKFZp781C1895;DKFZp781O1323;Dwfc;JV5-1;MADH5;SMAD 5;hSmad5 MAD homolog 5;MAD, mothers against decapentaplegic homolog 5;OTTHUMP00000223331;SMA- and MAD-related protein 5;SMAD, mothers against DPP homolog 5;mothers against DPP homolog 5;mothers against decapentaplegic homolog 5;mothers against decapentaplegic, drosophila, homolog of, 5;smad, mothers against dpp homolog 5 (drosophila) APPROVED protein-coding ENSG00000113658 HGNC:6771 04381 603110 REVIEWED 1344957 SMAD7 SMAD family member 7 The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 18 18 18 q21.1 43299268 43330141 - 46446223 46477081 - 48919853 48950711 - 1579878;1580863;2299963;2298922;2300008;2315074;2308865;6480464;6484113;6907045;7240710;8554872 11078792;11170839;12809600;14722617;15661223;18662538 10647776;10708948;10708949;10757800;10823886;10887185;11163210;11278251;11483516;11737269;11904440;12023024;12118366;12151385;12202987;12397035;12407115;12408818;12477932;12519765;12589052;12650946;12815042;12947087;12952364;14557482;14657019;14718519;14728725;14988821;14993265;15023526;15033458;15033661;15075243;15128733;15132952;15148321;15221015;15231748;15342556;15359284;15489334;15496141;15498852;15529348;15579469;15621726;15632190;15684397;15708859;15736400;15761153;15788410;15811425;15811853;15817471;15820682;15831498;15831516;15877825;15922743;15946939;16007121;16027725;16061177;16179804;16187293;16260615;16285943;16288847;16344560;16362038;16442497;16601693;16641086;16690609;16714330;16718778;16720724;17009056;17098745;17172861;17230494;17314099;17332363;17377371;17384642;17438144;17510063;17657819;17704440;17928287;17931948;17934461;18029348;18041647;18163503;18231913;18372901;18372905;18445023;18448069;18593713;18616749;18683731;18684712;18762808;18952608;19018011;19032343;19192480;19288000;19341727;19352540;19357349;19395656;19505925;19562778;19624886;19693466;19730683;19758997;19843678;19861282;19875456;19878580;19885573;20040761;20124488;20165854;20200978;20354004;20416076;20437058;20501757;20514018;20530476;20551054;20638935;20648012;20658468;20659471;20663871;20734064;20738806;20819778;20863724;20937913;21054221;21071539;21075068;21221812;21258410;21445336;21761138;21791611;21795712;21883230;21900845;21910156;21931165;22028324;22033246;22229264;22232431;22286770;22344298;22457752;22496417;22624557;22641218;22751114;22773947;22841502;22876112;22921829;23027871;23034881;23049692;23064961;23104301;23128233;23244128;23255602;23258148;23266556;23390194;23435373;23455153;23472153;23530056;23560096;23567938;23625826;23747528;23781096;23804438;23949881;23959799;23973329;23998914;24039762;24066093;24090133;24259667;24343358;24345480;24369345;24448986;24480808;24636138;24659668;24700460;24752577;24850914;24939309;9215638;9256479;9335507;9436979;9730599;9759503;9786930;9892009 4092 B3KYA8;K7EKF0;O15105 ABBA01018639;AC114684;AF010193;AF015261;AF026559;AF156731;AK131394;AK301535;AMYH02034686;BC074818;BC074819;BP363832;CH471096;DA882147;NG_023330;NM_001190821;NM_001190822;NM_001190823;NM_005904 AAB81246;AAB81354;AAH74818;AAH74819;AAL68977;BAG54770;BAH13509;EAW62931;NP_001177750;NP_001177751;NP_001177752;NP_005895;O15105 Hs.465087 1763619;1765387;1793052;1793054;5492074 PMC193708P1;PMC193708P2;SHGC-147306;SHGC-148875;Smad7 CRCS3;FLJ16482;MADH7;MADH8;SMAD 7;hSMAD7 MAD (mothers against decapentaplegic, Drosophila) homolog 7;MAD homolog 7;MAD homolog 8;MAD, mothers against decapentaplegic homolog 7;Mothers against decapentaplegic, drosophila, homolog of, 7;OTTHUMP00000163490;SMAD, mothers against DPP homolog 7;mothers against DPP homolog 7;mothers against DPP homolog 8;mothers against decapentaplegic homolog 7;mothers against decapentaplegic homolog 8;smad, mothers against dpp homolog 7 (drosophila) APPROVED protein-coding ENSG00000101665 HGNC:6773 04241 602932;612229 REVIEWED 1350114 SMAD9 SMAD family member 9 The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] 13 13 13 q12-q14 18486256 18561694 - 37418968 37494409 - 36844831 36920272 - 1580077;1580863;2299981;1643222;6480464;6484113;6907045;7240710;8554872 15042598;16361357;17347486 10583507;10647776;10708948;10708949;11121043;11163184;12477932;15009097;15146197;15231748;15489334;15542835;15621726;16189514;17081983;17356069;18425117;18775991;19018011;19211612;19244313;19269967;20379614;21890473;22452883;22707059;22897816;23022380;23384547;23455924;23804438;24008158;9205116;9256479;9436979;9759503 4093 O15198 ABBA01021352;ABBA01021353;AK311686;AK314920;AL138706;AMYH02027870;AMYH02027871;AW191604;BC011559;BC067766;BC104760;BC104762;BC143240;BC143256;CH471075;CN291481;D83760;D83761;DB501041;NG_016963;NM_001127217;NM_005905;XM_005266401;XM_005266403;XM_005266404;XM_006719827 AAH11559;AAI04761;AAI04763;AAI43241;ABZ92389;ACE86732;ACE87418;BAA21128;BAA21129;EAX08570;EAX08571;EAX08572;EAX08573;NP_001120689;NP_005896;O15198;XP_005266458;XP_005266460;XP_005266461;XP_006719890 Hs.123119 1690210;1797838;5015619;5022200;5022450;5037552 D10S275;D11S3114;D8S2279;L18426;MADH9_1987.3;RH92948 MADH6;MADH9;PPH2;SMAD8;SMAD8A;SMAD8B MAD homolog 9;Mothers against decapentaplegic, drosophila, homolog of, 9;OTTHUMP00000018262;OTTHUMP00000178565;SMAD, mothers against DPP homolog 9;mothers against decapentaplegic homolog 9;smad, mothers against dpp homolog 9 (drosophila) APPROVED protein-coding ENSG00000120693 HGNC:6774 178600;603295;615342 REVIEWED 6481280 SMAD9-IT1 SMAD9 intronic transcript 1 q13.3 100874072 AI122875;AL138706 SMAD9-AS1 APPROVED ncrna HGNC:39963 1312880 SMAD6 SMAD family member 6 The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014] 15 15 15 q22.31 43882942 43962620 + 66994674 67074338 + 66702336 66782000 + 1580863;724455;2300008;2289036;1643222;2315074;6480464;6484113;6907045;8699517;8554872;7240710 11078792;11170839;11920662;17347486;17437042 10647776;10655064;10708948;10708949;10722652;10748100;10757800;11278251;11483516;11737269;12118366;12397035;12407115;12477932;12782279;12815042;12857866;14645520;14657019;15033458;15146197;15221015;15231748;15359284;15489334;15496141;15529348;15621726;15665522;15716278;15736400;15761153;15817471;16249187;16282533;16299379;16373339;16491121;16601693;16687405;16886151;16951688;17359969;17676934;17850776;17931948;17934461;18445023;19018011;19032685;19047146;19211612;19277452;19322201;19688145;19758997;19959123;20462450;20514018;20658468;20663871;20734064;21145461;21576367;21791611;21897371;21900206;21984931;22223368;22275001;22589738;22705548;23284751;23455153;24850914;8673135;9256479;9335505;9436979;9712726;9759503 4091 H0YK80;H0YM33;O43541 ABBA01038807;ABBA01038808;AC013564;AC110048;AF035528;AF037469;AF041065;AF043640;AF101474;AM909653;AMYH02030657;AMYH02030658;BC012986;BC029288;BC052569;BU154759;CA406301;CB055216;CH471082;CN314453;CN314455;KF456081;NG_012244;NM_001142861;NM_005585;NR_027654;U59914 AAB94137;AAC00497;AAC50792;AAC82331;AAF06841;AAF14343;AAH12986;CAP20377;EAW77784;EAW77785;EAW77786;NP_001136333;NP_005576;O43541 Hs.153863 1645653;1645712;1654001;1763033;1764057;1778067;2113856;2181720;5016014 39078501;AB071130;CHLC.GGAA28H03;D15S1301;RH15748;RH47721;RH70683;SHGC-146780;SHGC-147716 AOVD2;HsT17432;MADH6;MADH7;SMAD 6;hSMAD6 MAD homolog 6;Mothers against decapentaplegic, drosophila, homolog of, 6;OTTHUMP00000164291;SMAD, mothers against DPP homolog 6;mothers against DPP homolog 6;mothers against decapentaplegic homolog 6;smad, mothers against dpp homolog 6 (drosophila) APPROVED protein-coding HGNC:6772 04240 602931;614823 REVIEWED 1607014 SMAGP small cell adhesion glycoprotein FOUND IN cell junction; nucleus; plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 12 12 12 q13.13 50440592 50465681 - 51639133 51664202 - 51245349 51270418 - 6480464 12477932;14702039;15021913;15986429;18029348;21906983;21963094;21987572;22505724;23000965 57228 O95332;Q0VAQ4;S4R3E1;S4R405;S4R466 ABBA01031607;ABBA01031608;ABBA01031609;AC046135;AC139768;AF091087;AK001839;AMYH02026484;BC001400;BC003379;BC008712;BC045658;BC120965;BC120966;BG740791;CA776511;CH471111;CR456943;NM_001031628;NM_001033873 AAC72956;AAH03379;AAH08712;AAI20966;AAI20967;CAG33224;EAW58183;EAW58184;EAW58185;NP_001026798;NP_001029045;Q0VAQ4 Hs.652389 1685766;1760775;1770115;2171187;2171189;5037552 A006B21;D12S1951;D8S2279;G20676;RH94292;SHGC-144292 MGC149453;MGC149454;hSMAGP small cell transmembrane and glycosylated protein;small trans-membrane and glycosylated protein;small transmembrane and glycosylated protein APPROVED protein-coding ENSG00000170545 HGNC:26918 14256 VALIDATED 1353457 SMAD1 SMAD family member 1 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 4 4 4 q31 143730483 143807862 + 146402951 146480328 + 145481306 145559176 + 1580077;1580863;1643224;1643228;1643229;1643233;1643234;1643235;1643222;1643227;2299978;6480464;6484113;6907045;7240710 15591053;15704675;15911698;16361357;16447265;16482100;17166487;17347486;17803470;17967875 10085121;10199400;10205054;10224145;10400677;10400705;10497242;10531362;10583507;10647776;10652350;10660046;10673036;10708948;10708949;10887155;10890911;10962029;11016919;11094085;11118211;11121043;11139569;11158580;11163184;11239394;11278251;11387330;11438941;11451566;11483516;11571290;11700304;11779505;11811554;12097147;12167862;12354674;12370310;12426322;12477932;12519765;12649288;12650946;12714599;12743038;12808092;12821673;12857866;12874272;12904571;12944489;14500836;14612411;14630787;14633973;14699069;14701756;14702039;14732718;15009097;15107829;15221015;15231748;15246821;15359284;15489334;15489854;15516492;15542835;15613244;15621726;15647271;15708501;15761153;15781469;15849193;15877825;16087734;16247476;16326713;16412560;16436528;16611643;16613856;16621789;16931515;16990609;17043655;17183365;17215250;17251190;17289590;17292623;17356069;17359969;17392271;17452325;17455258;17496924;17510966;17676934;17847004;17948051;17963781;18045539;18160706;18184649;18310319;18321803;18393632;18425117;18668566;18684712;18729074;18769113;18775991;19018011;19056927;19135894;19211612;19224917;19244313;19247629;19269967;19416967;19424179;19453261;19513897;19592636;19664780;19819941;19914168;19917253;19959123;19996292;20211142;20388715;20460105;20522807;20565840;20634891;20667911;20734064;20819778;20851880;20937913;21068203;21308777;21344387;21360446;21405981;21440420;21445358;21453705;21454478;21515822;21685363;21708152;21760921;21832049;21890473;21900206;21945631;21947082;22073863;22277251;22299030;22344298;22393057;22452883;22474288;22550179;22588298;22615489;22670624;22868198;22897816;22964636;23088614;23333304;23344957;23387849;23707512;23734213;23800974;23804438;23918166;24008158;24021264;24347165;24828823;8637600;8653785;8663601;8673135;8774881;8893010;9006934;9111321;9136927;9256479;9335504;9335505;9389648;9393997;9436979;9748228;9759503;9843199 4086 D6RAY1;D6RBH9;D6RD62;D6RDN7;D6REQ3;Q15797 ABBA01070030;ABBA01070031;ABBA01070032;ABBA01070033;ABBA01070034;AC093796;AK096624;AK293055;AL117396;AMYH02010255;AMYH02010256;BC001878;BE644607;BI772689;BI792941;BQ962660;BT007386;BU163870;CB956339;CH471056;HI961647;NM_001003688;NM_005900;U54826;U57456;U59423;U59912;XM_005262991;XM_005262992;XM_005262993;XM_006714217 AAB06852;AAC50493;AAC50621;AAC50790;AAH01878;AAP36050;ABM83436;ABM86650;BAF85744;CAB55898;CBY84968;EAX05037;EAX05038;EAX05039;EAX05040;NP_001003688;NP_005891;Q15797;XP_005263048;XP_005263049;XP_005263050;XP_006714280 Hs.604588 1673409;1697702;1699798;1708170;1756191;2176928;5114293;5115840 B327ZG1;D4S2549E;RH102368;RH103506;SHGC-143047;SHGC-79334;STS-Z39684;ksks229 BSP-1;BSP1;JV4-1;JV41;MADH1;MADR1;SMAD 1;hSMAD1 MAD homolog 1;MAD, mothers against decapentaplegic homolog 1;Mad-related protein 1;OTTHUMP00000220455;OTTHUMP00000220456;OTTHUMP00000221520;SMAD, mothers against DPP homolog 1;TGF-beta signaling protein 1;mothers against DPP homolog 1;mothers against decapentaplegic homolog 1;smad, mothers against dpp homolog 1 (drosophila);transforming growth factor-beta signaling protein 1;transforming growth factor-beta-signaling protein 1 APPROVED protein-coding ENSG00000170365 HGNC:6767 03356 600794;601472;601595 REVIEWED 1601981 SMAP2 small ArfGAP2 ENCODES a protein that exhibits ARF GTPase activator activity (inferred); zinc ion binding (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of ARF GTPase activity (inferred); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Dentin dysplasia, type 1 (inferred); Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; acetylsalicylic acid 1 1 1 p35.3-p34.1 39122094 39171384 + 40839378 40888998 + 40373706 40423326 + 6480464;6907045;7240710;8554872 12477932;15489334;16344560;16571680;16710414;17207965;18029348;19738201;20831471;21139048;21147065;24250222;24324551;24816145 64744 Q8WU79;X6RCC3 ABBA01023176;AK294675;AK298702;AK303975;AK308280;AK313105;AK316218;AL031985;AL133206;AL137764;AMYH02000854;BC014512;BC021133;BU617889;CH471059;DA082592;DC411665;NM_001198978;NM_001198979;NM_001198980;NM_022733;XM_005271120 AAH14512;AAH21133;ADQ32236;BAG35928;BAH11845;BAH12851;BAH14088;BAH14589;CAB61580;CAB70912;EAX07220;EAX07221;EAX07222;NP_001185907;NP_001185908;NP_001185909;NP_073570;Q8WU79;XP_005271177 Hs.15200;Hs.602551 1648079;1680319;2176675 RH16606;RH66079;SHGC-33564 RP1-228H13.3;SMAP1L OTTHUMP00000008376;OTTHUMP00000008377;OTTHUMP00000008378;stromal membrane-associated GTPase-activating protein 2;stromal membrane-associated protein 1-like;stromal membrane-associated protein 2 protein-coding ENSG00000084070 HGNC:25082 12442 125400 VALIDATED 1352527 SMAD4 SMAD family member 4 This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Oct 2009] 18 18 18 q21.1 45413367 45468195 + 48556583 48611412 + 51030213 51085042 + 734492;1599906;1599898;1599899;1599900;1580863;2299975;2299968;2299976;2299980;2300007;2306282;2298922;2300005;2299979;2299972;2299973;2300009;2299981;2299966;2308865;5490966;5490965;6480464;6484113;6907045;7240710;8554872 10331746;10451707;10706106;10819637;11332076;11783019;11809701;11920286;12809600;12894231;15017584;15042598;15385128;16859125;16951150;16959941;17613544;18662538;18772397;19506583;8553070;9582123 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4089 K7EIJ2;K7EIU8;K7EL15;K7EL18;K7ELK2;K7ENG1;K7ENG8;K7ES96;Q13485 AB043547;ABBA01018682;ABBA01018683;ABBA01018684;AC091551;AF045447;AK290770;AMYH02034710;AMYH02034711;AMYH02034712;AU120224;BC002379;BM701399;BX647129;CH471096;NG_013013;NM_005359;U44378 AAA91041;AAC03051;AAH02379;ABM82766;ABM85954;BAB40977;BAF83459;EAW62985;EAW62986;EAW62987;NP_005350;Q13485 Hs.75862 1335625;1668407;1683531;1711380;1734548;1769903;1778479;1794972;1796268;2153868;2181336;5037552 AF010230;D18S1110;D18S903E;D8S2279;MADH4_174;PMC86557P1;RH44980;RH46461;RH66749;RH75869;SHGC-56739;WI-11075 DPC4;JIP;MADH4;MYHRS;SMAD 4;hSMAD4 MAD homolog 4;MAD, mothers against decapentaplegic homolog 4;OTTHUMP00000163548;SMAD, mothers against DPP homolog 4;deleted in pancreatic carcinoma locus 4;deletion target in pancreatic carcinoma 4;mothers against DPP homolog 4;mothers against decapentaplegic homolog 4;mothers against decapentaplegic, Drosophila, homolog of, 4;smad, mothers against dpp homolog 4 (drosophila) APPROVED protein-coding ENSG00000141646 HGNC:6770 02995 139210;174900;175050;260350;600993 REVIEWED 1350342 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] X X X q25 128969174 129046159 - 128580478 128657490 - 129446501 129523513 - 1580863;6480464;9495920 21358755 11980720;12112843;12477932;1408766;14609955;14702039;15310751;15347669;15473299;15489334;15640247;15772651;16728976;16740656;17846119;18029348;18243132;18302774;18519667;18922045;19996304;21118156;21139048;21653943;21738833;21890473;21906983;21963094;22233809;22508985;22577152;22705370;22939629;22952240;22952844;23000965;23549828;24457600;24816145;25015289 6594 B7ZLQ5;P28370;Q86UA8 ABBA01047799;ABBA01047800;ABBA01047801;ABBA01047802;ABBA01047803;ABBA01047804;ABBA01047805;AK026426;AK123541;AL022577;AL138745;AMYH02040461;AMYH02040462;AW614102;BC051825;BC117447;BC143954;BC143955;BQ006393;BX647934;CH471107;DR002115;EU636009;HY043725;M89907;NG_012526;NM_001282874;NM_001282875;NM_003069;XM_005262461;XM_005262462;XM_006724782 AAA80560;AAH51825;AAI17448;AAI43955;ACF37172;EAX11833;EAX11834;EAX11835;EAX11836;NP_001269803;NP_001269804;NP_003060;P28370;XP_005262518;XP_005262519;XP_006724845 Hs.152292 2141165;2164098;2190975;2218034 L77638;L78006;MARC_12207-12208:1004716010:1;SMARCA1_3299 DKFZp686D1623;FLJ41547;ISWI;NURF140;SNF2L;SNF2L1;SNF2LB;SNF2LT;SWI;SWI2 ATP-dependent helicase SMARCA1;OTTHUMP00000023982;OTTHUMP00000023983;OTTHUMP00000023984;SNF2-like 1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1;global transcription activator homologous sequence;nucleosome-remodeling factor subunit SNF2L;probable global transcription activator SNF2L1;sucrose nonfermenting 2-like protein 1 APPROVED protein-coding ENSG00000102038 HGNC:11097 02055 300012 REVIEWED 1343311 SMAD3 SMAD family member 3 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq, Apr 2009] 15 15 15 q22.33 44246635 44375039 + 67358036 67487533 + 67065857 67195195 + 1599906;1599900;1559169;1625706;2306282;2300396;2298922;2299970;5490966;6480464;6484113;6907045;7240710;8554872 10819637;12770730;12809600;12883738;16891311;16959941;17613544;17908958;18772397 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4088 H0YKE2;H0YL71;H0YMP2;H0YMY0;H0YNV1;H3BP09;H3BQ00;H3BVD1;P84022;Q9P0T0 AA493306;AB004930;AB209616;ABBA01038804;ABBA01038805;AC012568;AC087482;AF025300;AF151027;AI762628;AI991957;AK026690;AK290881;AK298139;AK300614;AK301348;AK313812;AK316017;AL110265;AMYH02030662;AMYH02030663;AMYH02030664;BC000414;BC007496;BC050743;BE905995;BF058230;BG251847;BM551682;BM722372;BQ917888;BX506233;CH471082;CR457386;CR749287;DA453132;DA755047;DA977882;NG_011990;NM_001145102;NM_001145103;NM_001145104;NM_005902;U68019;U76622;XM_006720506 AAB18967;AAB80960;AAF36113;AAH50743;AAL68976;ABZ92016;BAA22032;BAD92853;BAF83570;BAG36548;BAH12731;BAH13315;BAH13461;BAH14388;CAG33667;CAH18142;EAW77788;EAW77789;EAW77790;EAW77791;NP_001138574;NP_001138575;NP_001138576;NP_005893;P84022;XP_006720569 Hs.727986;Hs.742270 1729047;1783302;1797834;1846779;1852770;1858460;2129805;2138026;2167175;2167177;2177720;2182257;5020327 A005A06;A008T12;G19273;G20255;MADH3_2337;Madh3;RH44526;RH47017;RH47448;SHGC-33628;SHGC-79498;STS-AA026105;STS-U68019 DKFZp586N0721;DKFZp686J10186;HSPC193;HsT17436;JV15-2;LDS1C;LDS3;MADH3;MGC60396;hMAD-3;hSMAD3;mad3 MAD homolog 3;MAD, mothers against decapentaplegic homolog 3;OTTHUMP00000164305;SMA- and MAD-related protein 3;SMAD, mothers against DPP homolog 3;mad homolog JV15-2;mad protein homolog;mothers against DPP homolog 3;mothers against decapentaplegic homolog 3;smad, mothers against dpp homolog 3 (drosophila) APPROVED protein-coding ENSG00000166949 HGNC:6769 04380;08533 603109;613795 REVIEWED 1347252 SMAP1 small ArfGAP 1 The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 q13 71765844 71960082 + 71377474 71571718 + 70667771 70862015 + 6480464;6907045 12119110;12477932;14574404;14702039;15489334;15659652;15761153;16273301;16344560;17353931;19460752;21139048;21832049;21890473;23000965;23752192;24250222;8125298;9644265 60682 H0Y5G0;Q5T6I8;Q8IYB5 ABBA01040270;ABBA01040271;AF442495;AK023221;AK074340;AK124239;AK222711;AK290448;AK303387;AK307807;AK315579;AL121961;AL354943;AL591049;AL833906;AMYH02013877;AMYH02013878;AMYH02013879;AMYH02013880;AY055003;AY055004;AY055015;BC008672;BC028074;BC036123;CH471051;DA527013;DB480952;NM_001044305;NM_001281439;NM_001281440;NM_021940;XM_005248760;XM_006715547 AAH08672;AAH28074;AAH36123;AAL14714;AAL14715;AAL14716;AAL14717;AAP97320;BAB14473;BAD96431;BAF83137;BAG37952;BAG64443;CAD38762;EAW48805;EAW48806;EAW48807;EAW48808;EAW48809;NP_001037770;NP_001268368;NP_001268369;NP_068759;Q8IYB5;XP_005248817;XP_006715610 Hs.485717 1340495;1661027;1673583;1689113;1712931;1739949;1759147;1789040;1853331;1855891;2119078;2136715;2138387;2140889;7187502 A003B38;D20S768;D6S1180E.1;D6S1220E;D6S1413;D6S455;G65654;RH120555;RH15822;RH18293;RH75302;SHGC-150607;SHGC-30828;WI-13200 FLJ13159;FLJ42245;SMAP-1 OTTHUMP00000016707;OTTHUMP00000016708;OTTHUMP00000016709;stromal membrane-associated GTPase-activating protein 1;stromal membrane-associated protein 1 APPROVED protein-coding ENSG00000112305 HGNC:19651 18072 611372 REVIEWED 1347299 SMAD2 SMAD family member 2 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] 18 18 18 q21.1 42208816 42306655 - 45359466 45457564 - 47833095 47931193 - 1599906;1599900;1580863;1559169;2299974;2306282;2298922;2300007;2302517;2299962;2299970;2299973;2299967;2299968;2299964;2308865;6480464;6484113;6907045 10819637;10969799;11332076;11809701;12770730;12809600;12883738;12894231;14985451;15548366;16141389;16959941;17613544;18662538;18684975 10085121;10197981;10199400;10220381;10400677;10420150;10485843;10497242;10505717;10531062;10531362;10549282;10575014;10587642;10615055;10647776;10678166;10708948;10708949;10757800;10781087;10823886;10825365;10863401;10878024;10887155;10890911;10938097;11016919;11027280;11042172;11043574;11058129;11094085;11100470;11102446;11114293;11118211;11158580;11160896;11163184;11226163;11229886;11264182;11274206;11278302;11278756;11359933;11371641;11387212;11387330;11389444;11438668;11555647;11691834;11779503;11804592;11879191;12000714;12023901;12034730;12034739;12097320;12105419;12150994;12165866;12167862;12170265;12191473;12191474;12193595;12202987;12354674;12370310;12393416;12411310;12419246;12426322;12477932;12531695;12543979;12615364;12618756;12621041;12650946;12700238;12714599;12732139;12732634;12743038;12760775;12764135;12794086;12808092;12815042;12874272;12904571;12917407;14531804;14555988;14612425;14612439;14691252;14699069;14701756;14702039;14727154;14728725;14729983;15009097;15066998;15084259;15107821;15144564;15150278;15166010;15218362;15221015;15231748;15241418;15280432;15308665;15326485;15350224;15350225;15356634;15359284;15467747;15489334;15489854;15494412;15496141;15520018;15599395;15613484;15623506;15647271;15665291;15735739;15750622;15761148;15761153;15799969;15811425;15817471;15849193;15922743;16007227;16027725;16055724;16087734;16146757;16179804;16200078;16224064;16253118;16260601;16344560;16362038;16403803;16437159;16478646;16556868;16619037;16636667;16645187;16751101;16751102;16806069;16806156;16916642;16924420;16959829;17035229;17053951;17081983;17099224;17142261;17217620;17239842;17283070;17292623;17292826;17295676;17341133;17365852;17427197;17438144;17591695;17591701;17711623;17729405;17875924;17878231;17927854;18003620;18082619;18166170;18210139;18215124;18223258;18263591;18268325;18334480;18393632;18482992;18511908;18568018;18616749;18618014;18648910;18729074;18783722;18826955;18832382;18949743;18955504;18974875;18983975;19018011;19032343;19049980;19066393;19104148;19122240;19135894;19139564;19201832;19211612;19289081;19322201;19345189;19351817;19366699;19397700;19419955;19420158;19421146;19429239;19453261;19558215;19580641;19620243;19688145;19751112;19819941;19822523;19827952;19914168;19917253;19920136;19937272;19951945;20010874;20011542;20070253;20086175;20195357;20207742;20211142;20346360;20347004;20350217;20403362;20453000;20460105;20462450;20571128;20604712;20607798;20634891;20717921;20734064;20852387;20930144;20937913;20945383;20954112;20959473;20977504;21036908;21052639;21068203;21081648;21095583;21106222;21110833;21139048;21149449;21170261;21258410;21377836;21406405;21454478;21490324;21532621;21613609;21624123;21646355;21732483;21749466;21828274;21883378;21947082;21960005;21988832;21990365;22195013;22196728;22227581;22228025;22278155;22301403;22344298;22385658;22426647;22461896;22505724;22563507;22617150;22705205;22710166;22868198;22935165;22999704;23000965;23077590;23139211;23259454;23295196;23297089;23419524;23530056;23591895;23649632;23666711;23687300;23747729;23779087;23781096;23788427;23804438;23814118;23873106;23916701;23929584;23938591;24008158;24052079;24071738;24098582;24157709;24183998;24269534;24347165;24370825;24477908;24503541;24530353;24654937;24664294;24816145;25059663;8617505;8673135;8752209;8774881;8861901;8889549;8893010;8980228;9006934;9092546;9111321;9136927;9214507;9256479;9288972;9311995;9346908;9389648;9436979;9503010;9525694;9679056;9702197;9702198;9732876;9759503;9820171;9843199;9858566;9865696;9873005;9892009 4087 B7Z5N5;K7EJX0;K7EL92;K7ERC7;K7ESI8;Q15796;Q53XR6 AA081871;AA418737;ABBA01018626;ABBA01018627;AC120349;AF027964;AI087928;AI453799;AI765747;AK126373;AK299218;AK312963;AMYH02034674;AMYH02034675;AMYH02034676;AY134745;BC014840;BC025699;BI258844;BQ018815;BQ900993;BT007422;BU167620;BU517178;BX491944;CH471096;CR992221;DB035686;DB462454;DC371139;NG_029946;NM_001003652;NM_001135937;NM_005901;U59911;U65019;U68018;U78733;XM_005258259;XM_006722451 AAB17054;AAB17087;AAC39657;AAC50789;AAC51918;AAH14840;AAH25699;AAN08619;AAP36090;ABM82427;ABM84458;ABM84672;ABM85619;BAG35802;BAH12971;EAW62914;EAW62915;EAW62916;EAW62917;NP_001003652;NP_001129409;NP_005892;Q15796;XP_005258316;XP_006722514 Hs.12253;Hs.705764;Hs.741342 1654016;1657936;1673532;1679814;1765211;1796266;2126659;2138852;2158775;2160795;2169353;2174069;2183790;2190881;5015619;5022200 D11S3114;D18S1312;L18426;MADH2_1658;MARC_10275-10276:998924078:1;RH12141;RH17857;RH18445;RH47015;RH66619;RH69774;RH98251;SHGC-148706;SHGC-16176;SHGC-64255;WIAF-1471 JV18;JV18-1;MADH2;MADR2;MGC22139;MGC34440;SMAD 2;hMAD-2;hSMAD2 MAD homolog 2;MAD, mothers against decapentaplegic homolog 2;Mad protein homolog;Mad-related protein 2;OTTHUMP00000163489;SMAD, mothers against DPP homolog 2;Sma- and Mad-related protein 2;mother against DPP homolog 2;mothers against DPP homolog 2;mothers against decapentaplegic homolog 2;smad, mothers against dpp homolog 2 (drosophila) APPROVED protein-coding ENSG00000175387 HGNC:6768 03221 601366 REVIEWED 7248533 SMARCA5-AS1 SMARCA5 antisense RNA 1 4 4 4 q31.21 141764643 141765806 - 144434625 144435990 - 143513472 143514837 - 100128055 ABBA01070003;AC104685;AK307172;AMYH02010235;HY014185;NR_104027 Hs.707570 ncrna ENSG00000245112 HGNC:39982 VALIDATED 1318831 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008] 4 4 4 q31.1-q31.2 141764634 141804574 + 144434616 144478642 + 143513463 143557489 + 1580863;6480464;9495920 21358755 10655480;10662543;10747848;10880450;10914549;11435432;11532953;11691835;11980720;12167701;12198550;12374985;12434153;12477932;12972596;14702039;14729942;14759371;15009096;15120635;15140983;15148359;15284901;15302935;15313181;15489334;15543136;15616580;15635413;15775975;15780937;16085498;16344560;16510874;16510875;16514417;16565220;16603771;16675956;16728976;16877760;16917504;16964243;17081983;17314511;17846119;18029348;18162579;18519663;18535655;18553938;19454010;19471022;19578370;19596686;19940112;20974961;21113140;21139048;21145461;21172662;21249171;21252943;21261476;21319273;21519849;21532573;21549307;21693764;21738833;21890473;21900490;21906983;21907836;21937426;21963094;22147730;22154806;22178446;22242598;22412018;22439931;22525276;22586326;22751105;22939629;23000965;23022380;23264744;23319141;23383273;23691993;24332808;24457600;24607692;24816145;25027693;9730600;9836642 8467 O60264 AB010882;ABBA01070003;AC099396;AC104685;AC139713;AF086544;AK123439;AK302841;AK308424;AK316444;AL157495;AMYH02010235;AU132439;BC023144;CH471056;NM_003601 AAH23144;AAY40920;AAY40965;ADZ15718;BAA25173;BAG64032;BAH14815;EAX05071;NP_003592;O60264 Hs.558422 1681975;1687395;1724713;1851428;2127884;2190985 D4S846;MARC_12251-12252:1005143327:1;RH122560;RH70242;SHGC-67312;SHGC-68114 ISWI;SNF2H;WCRF135;hSNF2H OTTHUMP00000220293;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5;hISWI;sucrose nonfermenting protein 2 homolog;sucrose nonfermenting-like 5 APPROVED protein-coding ENSG00000153147 HGNC:11101 04538 603375 REVIEWED 1320088 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 4 4 4 q22-q23 92425422 92509567 + 95128759 95212443 + 94207608 94291292 + 1580756;1580863;6480464;8699517;8554872;7240710 11031099 10574461;12477932;14702039;15302935;15489334;16344560;17081983;18029348;18675275;19471022;20508149;20889312;21139048;21252943;21549307;21693764;21820097;21890473;21906983;22101266;22505724;22863883;22864933;22960744;23000965;23666239;24816145 56916 D6RAY8;F8W9M2;Q9H4L7 AB032948;ABBA01063619;AC096746;AK023990;AK025302;AK027490;AK301668;AL359929;AL512768;AL704040;AMYH02009756;AMYH02009757;AMYH02009758;AY008271;BC017953;BC041800;BC045534;CH471057;DA798320;DB207879;NG_031945;NM_001128429;NM_001128430;NM_001254949;NM_020159;NR_045644;XM_006714275;XM_006714276;XM_006714277 AAG16639;AAH17953;AAH45534;ABZ92355;ACE86841;ACE87528;BAA86436;BAB14759;BAB55150;BAH13535;CAB95769;CAC21685;EAX06049;EAX06050;EAX06051;NP_001121901;NP_001121902;NP_001241878;NP_064544;Q9H4L7;XP_006714338;XP_006714339;XP_006714340 Hs.410406 1644861;1675479;1675800;1764597;1794626;1796844;1848108;1849762;2131376;2153893 G33505;PMC33171P1;RH71145;SHGC-148190;SHGC-24039;SHGC-24763;SHGC-68102;SHGC-68143;SMARCAD1__1204;WI-19794 DKFZp762K2015;ETL1;HEL1;KIAA1122;hHEL1 ADERM;ATP-dependent helicase 1;OTTHUMP00000161594;OTTHUMP00000161595;OTTHUMP00000219301;OTTHUMP00000219302;OTTHUMP00000219930;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 APPROVED protein-coding ENSG00000163104 HGNC:18398 11586 136000;612761 REVIEWED 1348339 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014] 9 9 9 p22.3 1933296 2111552 + 2015342 2193624 + 2015219 2193624 + 1580863;2302527;6480464;8694154;8699517;9495920;9479075;7240710;8554872 17075831;21358755;23355908;24686119 10072425;10078207;10619021;10910076;10938115;11078522;11134956;11175787;11238380;11262242;11274403;11318604;11719516;11734557;11839798;11850427;12044884;12065415;12200431;12437990;12453419;12477932;12493776;12566296;12620226;12757710;14559996;14603256;14657023;14701856;14702039;14718574;15034933;15075294;15140983;15141164;15207703;15240517;15302935;15314177;15347669;15696166;15774904;16097034;16230384;16341228;16452305;16565076;16601680;16749937;16877760;16916647;16932743;16940996;17043312;17074803;17081983;17257825;17261582;17546055;17938176;17984088;18006815;18029348;18042045;18082132;18487222;18660489;18923443;19144648;19183483;19363039;19371634;19471022;19488910;19525936;19596686;19615732;19726504;19759913;19762545;19784067;20011120;20093853;20224553;20305087;20333683;20360068;20379614;20457675;20460684;20562864;20719309;21070662;21079652;21092585;21189327;21262773;21566081;21638299;21646426;21890473;21906983;22242598;22334708;22366787;22439931;22505724;22586326;22721696;22939629;22944692;23000965;23088494;23163725;23275444;23276717;23322154;23359823;23453885;23524580;23667531;23770848;23872584;23897427;23963727;23973329;24025145;24421395;24457600;24520176;24529757;24816145;7565614;8012116;8208605;8223438;8670841;8804307;8895581;9099865;9128241;9710619;9744861;9891079 6595 B1ALF6;B1ALG1;B1ALG2;B1ALG5;B4DNT1;B4DSC8;F6RS74;F6UH26;F6VDE0;F6XE55;F6XG14;P51531;Q56A76;Q8N9Q1 ABBA01065443;ABBA01065444;ABBA01065445;AK094076;AK296373;AK298045;AK299683;AK300093;AK308941;AL138755;AL359076;AL558829;AMYH02019045;AMYH02019046;AMYH02019047;AMYH02019048;AMYH02019049;AY293824;BC040029;BC068252;BI758293;BM921013;CA313181;CD107405;CD513892;CD702931;CH471071;DA084762;DA823500;NG_032162;NM_001289396;NM_001289397;NM_001289398;NM_001289399;NM_001289400;NM_003070;NM_139045;U92832;X72889 AAB68685;AAH40029;AAI56186;BAC04280;BAG59047;BAG60343;BAG61590;BAG61895;CAA51407;EAW58811;EAW58812;EAW58813;EAW58814;EAW58815;NP_001276325;NP_001276326;NP_001276327;NP_001276328;NP_001276329;NP_003061;NP_620614;P51531 Hs.298990;Hs.644901 1661730;1729904;1758391;1774677;1787654;1793872;1854435;2108935;2143977 D9S143;D9S2065;G17342;PMC303366P11;SHGC-12004;SHGC-148225;SHGC-156097;SMARCA2_2377.2;WI-19184 BAF190;BRM;FLJ36757;MGC74511;NCBRS;SNF2;SNF2L2;SNF2LA;SWI2;Sth1p;hBRM;hSNF2a ATP-dependent helicase SMARCA2;BAF190B;BRG1-associated factor 190B;OTTHUMP00000020970;OTTHUMP00000020971;SNF2-alpha;SNF2-like 2;SNF2/SWI2-like protein 2;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2;global transcription activator homologous sequence;probable global transcription activator SNF2L2;protein brahma homolog;sucrose nonfermenting 2-like protein 2 APPROVED protein-coding ENSG00000080503 HGNC:11098 02483 600014;601358 REVIEWED 734113 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q23.3 56297562 56308472 - 61909441 61920699 - 63832081 63842991 - 1580863;6480464;8694154;9495920 21358755;23355908 10382302;10943845;11726552;12477932;12665591;14559996;15231747;15489334;16217013;16964243;17081983;17474147;20148946;20305087;20308539;20360068;21139048;21145461;21549307;21890473;21906983;21963094;22505724;22939629;23000965;24457600;24816145;8804307;8895581;9693044 6603 B9EGA3;J3KMX2;J3KT18;J3QQL7;J3QS33;J3QWB6;Q92925 ABBA01035318;ABBA01035319;AC015651;AF068245;AF113019;AK025917;AK300939;AK303951;AK307944;AMYH02033780;BC018953;BC136322;BC142963;BM463728;CH471109;NM_001098426;U66618;XM_005257604 AAC50696;AAF20280;AAH18953;AAI36323;AAI42964;BAG62568;BAG64878;EAW94266;EAW94267;EAW94268;NP_001091896;Q92925;XP_005257661 Hs.250581 1676047;1739463;1773615;1798206;2135167;2135169;2191523 D17S1654;MARC_26036-26037:1032447192:1;RH36133;RH36220;RH80844;SGC30177;SMARCD2_2130 BAF60B;CRACD2;PRO2451;Rsc6p 60 kDa BRG-1/Brm-associated factor subunit B;BRG1-associated factor 60B;SWI/SNF complex 60 kDa subunit B;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2;Swp73-like protein;chromatin remodeling complex BAF60B subunit;mammalian chromatin remodeling complex BRG1-associated factor 60B APPROVED protein-coding ENSG00000108604 HGNC:11107 03439 601736 REVIEWED 1315563 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 56207780 56235494 - 56555636 56583351 - 56161852 56189567 - 1580863;6480464;8694154;9495920 21358755;23355908 10078207;10943845;11013263;11018012;11078522;11238380;11726552;11734557;11784859;12192000;12244326;12368262;12453419;12477932;12665591;12917342;14559996;14729568;14743216;15035981;15150092;15302935;15345747;15489334;15985610;16055720;16159877;16169070;16199878;16217013;16230384;16387653;16568092;16601680;16713569;16751102;16940996;17081983;17474147;17620012;17643375;17803295;17878164;18003620;18029348;18086889;18451880;18781797;18809673;19164553;19322201;19336002;19454010;19471022;19505873;19525936;19650111;19759913;20086098;20130577;20305087;20360068;20400511;20460684;21044950;21118156;21139048;21145461;21382013;21532573;21549307;21693764;21699904;21890473;21906983;21988832;22113938;22379092;22505724;22573825;22586326;22939629;23000965;23022380;23030715;23275444;24332808;24457600;24583282;24816145;8804307;8889548;8895581;9435219;9584200;9693044;9710619;9845365 6601 F8VXC8;F8VZW6;Q8TAQ2 AB209006;AB209293;ABBA01008406;ABBA01008407;AC073896;AK025128;AK293896;AK315153;AL833124;AMYH02026562;BC009067;BC013045;BC026222;BC040645;BE326466;BQ272432;BT009924;BX476347;CB850719;CH471054;CX165574;NM_001130420;NM_003075;NM_139067;U66616;XM_005269101;XM_005269102;XM_005269103;XM_005269104 AAC50694;AAH09067;AAH13045;AAH26222;AAP88926;ABW03707;BAD92243;BAD92530;BAG57283;CAH56218;EAW96906;EAW96907;EAW96908;NP_001123892;NP_003066;NP_620706;Q8TAQ2;XP_005269158;XP_005269159;XP_005269160;XP_005269161 Hs.236030;Hs.632717 1652491;1656541;1746817;1773166;2122421;5092710 A005R19;G32279;G64806;RH47781;STS-T64879;STS-U66616 BAF170;CRACC2;DKFZp313D0632;Rsc8 BRG1-associated factor 170;OTTHUMP00000243441;OTTHUMP00000243447;OTTHUMP00000243474;OTTHUMP00000243475;SWI/SNF complex 170 kDa subunit;SWI/SNF complex subunit SMARCC2;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 2;SWI3-like protein;chromatin remodeling complex BAF170 subunit;mammalian chromatin remodeling complex BRG1-associated factor 170 APPROVED protein-coding ENSG00000139613 HGNC:11105 03437 601734 REVIEWED 1312524 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 47569167 47765120 - 47627378 47823405 - 47585888 47781915 - 1580863;6480464;8694154;9495920;8554872 21358755;23355908 10078207;10619021;10943845;11003653;11013263;11018012;11078522;11238380;11726552;11734557;11784859;11950834;12244326;12453419;12477932;12665591;12917342;14530271;14559996;14676191;14729568;14743216;14966121;15140983;15144186;15150092;15170388;15302935;15314177;15489334;15923603;15985610;16055720;16083285;16159877;16199878;16217013;16230384;16287714;16387653;16452305;16568092;16601680;16751102;16940996;17074803;17081983;17314511;17474147;17513758;17526739;17620012;17643375;18003620;18029348;18042045;18086889;18303029;18581278;18781797;18809673;19156145;19321449;19322201;19367581;19471022;19525936;19650111;20086098;20130577;20305087;20360068;20379614;20400511;20460684;20467438;20506188;20508149;20829358;20972266;21118156;21145461;21252943;21520050;21532573;21549307;21693764;21699904;21890473;21906983;21963094;22053931;22139574;22242598;22334708;22505724;22586326;22939629;23000965;23022380;23275444;23383273;23443559;23752268;23799850;23996527;24250222;24365151;24434208;24457600;24550385;24816145;8804307;8889548;8895581;9584200;9590696;9693044;9710619;9744861;9845365;9891079 6599 F8WE13;Q58EY4;Q92922 ABBA01024678;ABBA01024679;ABBA01024680;ABBA01024681;ABBA01024682;ABBA01024683;ABBA01024684;ABBA01024685;ABBA01024686;AC026318;AC112512;AC130472;AK302412;AK302541;AMYH02006696;AMYH02006697;AMYH02006698;AMYH02006699;AMYH02006700;AMYH02006701;AMYH02006702;AMYH02006703;BC012101;BC021862;BC032564;BC039843;BC040242;BC050564;BC065253;BC113465;BC117213;BG474088;BM971095;CH471055;NM_003074;U66615 AAC50693;AAH21862;AAH32564;AAH39843;AAH50564;AAH65253;AAI13466;AAI17214;ACE86821;ACE87507;BAG63721;BAG63813;EAW64831;EAW64832;NP_003065;Q92922 Hs.476179 1646495;1646497;1647101;1670451;1679421;1735308;1762575;1762577;1798204;1857477;2141052;2147655;2163661;2167646;2175255;2177050;5111695 A005X26;D3S2944E;D3S3284;D3S3441;G20574;G22291;G42248;HSC11A082;RH91777;SHGC-146379;SHGC-146380;SHGC-30198;SHGC-53111;SHGC-76924;SMARCC1_2308;WI-11317;WI-17963 BAF155;CRACC1;Rsc8;SRG3;SWI3 BRG1-associated factor 155;OTTHUMP00000164798;SWI/SNF complex 155 kDa subunit;SWI/SNF complex subunit SMARCC1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1;chromatin remodeling complex BAF155 subunit;mammalian chromatin remodeling complex BRG1-associated factor 155 APPROVED protein-coding ENSG00000173473 HGNC:11104 03435 601732 VALIDATED 1313419 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13-q14 49274445 49289979 + 50478760 50494494 + 50084978 50100711 + 1580863;6480464;8694154;9495920;9586357;8554872 21358755;23355908;24615205 10078207;11018012;11053448;11078522;11726552;11734557;11784859;12477932;12665591;12753905;12917342;14559996;14729568;15146197;15489334;15985610;16189514;16199878;16344560;16484223;17474147;18029348;18042045;18303029;18809673;19371634;19454010;19762545;20211142;20305087;20360068;20460684;21118156;21532573;21890473;21906983;21963094;21988832;22285184;22334708;22505724;22678362;22939629;22990118;23000965;23455924;24255178;24816145;8804307;8889549;8895581;9693044;9710619;9892636 6602 F8VRQ4;F8VUB0;F8VW95;F8VZ70;H0YHV1;Q96GM5 AA610093;ABBA01031554;ABBA01031555;AC025154;AF109733;AK130517;AK292700;AK293932;AMYH02026453;BC000063;BC009368;BE905082;CH471111;CN272379;DA825057;DB010252;N75126;NM_003076;NM_139071;U66617;XM_005269107 AAC50695;AAD23390;AAH09368;ABZ92538;BAF85389;BAG57311;EAW58120;EAW58121;EAW58122;EAW58123;EAW58124;EAW58125;EAW58126;EAW58127;NP_003067;NP_620710;Q96GM5;XP_005269164 Hs.79335 1645476;1666176;1856936;2144553;2175612 A005C39;RH47016;RH70705;SHGC-32103;WI-22480 BAF60A;CRACD1;Rsc6p 60 kDa BRG-1/Brm-associated factor subunit A;BRG1-associated factor 60A;OTTHUMP00000196567;OTTHUMP00000196568;SWI/SNF complex 60 kDa subunit A;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1;Swp73-like protein;chromatin remodeling complex BAF60A subunit;mammalian chromatin remodeling complex BRG1-associated factor 60A APPROVED protein-coding ENSG00000066117 HGNC:11106 03438 601735 REVIEWED 1314575 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008] 2 2 2 q35 211045111 211115648 + 217277137 217347776 + 216412414 216483053 + 1599053;6480464;7240710;8554872;8699517 11799392 10713074;10857751;12471207;12477932;14702039;15489334;16237566;16344560;16840568;17089404;18356746;18520775;18805831;18974355;19127206;19752368;19793861;19793862;19793863;19793864;19841479;20179009;20301550;20379614;21327070;21504906;21525954;21906983;22242598;22279047;22378147;22939629;22995303;23630135;23671665;23873943;24332808;24589093;24730652;24816145;24910198 50485 C9J6I8;C9J8F8;C9JHQ1;C9JP32;C9JS37;H7BYI2;H7C051;H7C1I3;Q9NZC9 ABBA01062815;ABBA01062816;AC098820;AF082179;AF210833;AF210834;AF210835;AF210836;AF210837;AF210838;AF210839;AF210840;AF210841;AF210842;AF432223;AI701066;AK000117;AK023780;AL122076;AMYH02005759;BC016482;BC029994;BC043341;BX104166;CH471063;DA856812;DB099423;NG_009771;NM_001127207;NM_014140;XM_005246631;XM_005246632;XM_006712557 AAF24984;AAF70454;AAH16482;AAH43341;AAL73034;AAX93097;ABM82663;ABM85839;BAA90955;CAB59251;EAW70567;NP_001120679;NP_054859;Q9NZC9;XP_005246688;XP_005246689;XP_006712620 Hs.516674 1788500;1788502;1788504;1788506;1788508;1788510;1788512;1788514;1788516;2139908;2218036 G67536;G67537;G67538;G67539;G67540;G67541;G67542;G67543;G67544;RH12875;SMARCAL1_2972 HARP;HHARP ATP-driven annealing helicase;HepA-related protein;OTTHUMP00000164057;OTTHUMP00000206800;OTTHUMP00000206801;SMARCA-like protein 1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1;sucrose nonfermenting protein 2-like 1 APPROVED protein-coding ENSG00000138375 HGNC:11102 05969 242900;606622 REVIEWED 5129382 SMARCE1P1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 1 11 11 11 q22.3 104428958 104430225 - 107274096 107275363 - 107403370 107404637 - 100271884 ABBA01039883;AMYH02025531;AP000766;NG_011597 pseudo HGNC:39731 INFERRED 1323550 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q35-q36 145493418 145531599 - 150936059 150974231 - 151238973 151277145 - 6480464;8694154;9495920;9586349;8554872 21358755;23355908;23702776 11726552;12477932;12690205;12853948;14697242;14701856;15489334;16687403;17081983;17363140;17474147;18816825;20305087;21694703;21906983;22068056;22505724;22833560;22939629;23219531;23382691;23563706;23716599;24250222;24816145;8804307;8895581;9693044;9891079 6604 C9JYI7;F8WBJ3;H7C4E9;Q6STE5 AACC02000108;ABBA01035158;ABBA01035159;ABBA01035160;AC005486;AC021097;AK127595;AK297876;AK309500;AK316173;AMYH02017071;AMYH02017072;AY450430;AY450431;BC002628;BC110350;BI598614;BX648385;CH471173;NG_029468;NM_001003801;NM_001003802;NM_003078;U66619 AAC50697;AAH02628;AAI10351;AAR88510;AAR88511;AAS00380;AAS02031;BAG54531;BAH12684;BAH14544;EAL24510;EAW54005;EAW54006;EAW54007;EAW54008;EAW54009;NP_001003801;NP_001003802;NP_003069;Q6STE5 Hs.647067 1338462;1688328;1735704;1779142;2149938;2179486;2181139 D7S2157E;D7S642;G33154;GDB:4584943;RH66788;RH91733;STS-R51978 BAF60C;CRACD3;MGC111010;Rsc6p 60 kDa BRG-1/Brm-associated factor subunit C;60kDa BRG-1/Brm associated factor subunit c;BRG1-associated factor 60C;OTTHUMP00000212163;OTTHUMP00000212164;SWI/SNF complex 60 kDa subunit C;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3, isoform 1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3;Swp73-like protein;chromatin remodeling complex BAF60C subunit;mammalian chromatin remodeling complex BRG1-associated factor 60C APPROVED protein-coding ENSG00000082014 HGNC:11108 03440 601737 REVIEWED 5129407 SMARCE1P2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 2 6 6 6 q14.3 85572594 85573814 - 85139299 85140519 - 84429581 84430801 - 442233 ABBA01040464;AL137010;AMYH02014027;NG_011600 pseudo HGNC:39732 INFERRED 5129409 SMARCE1P5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 5 13 13 13 q14.11 26225071 26226362 + 45168994 45170285 + 44594858 44596149 + 400129 ABBA01021231;AL356107;AMYH02027954;NG_011330 pseudo HGNC:39734 INFERRED 5129408 SMARCE1P3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 3 14 14 14 q11.2 1491205 1492483 + 21630671 21631949 + 21162512 21163790 + 401744 ABBA01061240;AL157687;AMYH02028830;NG_011599 pseudo HGNC:39733 INFERRED 1318721 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.23 7968247 8015764 + 24129150 24176705 + 23786963 23834518 + 1580863;1599055;6480464;7240710;8694154;8699517;9495920;8554872 21358755;23355908;9671307 10078207;10208879;10319872;10365963;10490642;10521299;10619021;10688647;10739763;10773452;10943845;11013263;11018012;11078522;11085541;11238380;11259590;11430827;11479624;11486022;11726552;11734557;11756182;11782395;11782423;11784859;11880634;11921280;11950834;12016208;12082626;12112529;12138206;12145209;12200431;12213194;12226744;12453419;12477932;12548550;12620397;12637547;12665591;12892231;14526201;14559996;14604992;14702039;14729568;14743216;14963118;14990991;15096481;15101046;15141006;15150092;15175083;15314177;15461802;15489652;15589835;15642401;1569166;15696166;15761491;15769941;15796965;15875659;15899790;15981100;15985610;15993274;16075307;16154112;16169070;16199878;16217013;16219292;16267391;16287714;16288006;16314535;16344560;16387653;16403635;16528370;16568092;16601680;16687403;16772295;16889668;16912184;16945155;17357086;17376508;17486366;17616514;17620012;17669367;17699849;17717433;17922027;18029348;18042045;18072270;18087273;18236049;18262058;18266055;18285426;18327209;18414052;18422762;18451880;18580682;18647326;18676838;18710953;18809673;18973917;18985520;18997735;19014595;19033866;19061646;19124645;19141382;19221051;19221586;19232540;19234532;19276269;19305156;19320657;19328320;19351817;19371634;19389610;19398554;19454010;19471022;19480937;19503603;19505873;19515827;19525936;19582488;19650111;19683621;19716452;19750561;19805520;19808872;19902524;19913121;20003390;20078948;20118769;20305087;20305614;20360068;20460684;20472658;20506188;20614030;20628086;20829602;20930055;20932739;21057957;21108436;21127945;21139048;21145461;21159066;21159874;21208904;21240060;21255467;21347347;21494030;21520050;21521802;21532573;21549307;21613800;21637919;21705046;21809989;21832049;21890473;21900206;21906983;21963094;21994574;22020042;22038540;22082606;22242598;22285184;22334708;22434358;22479537;22490415;22505724;22544318;22573825;22614000;22672440;22686875;22698742;22752724;22797305;22797925;22928108;22939629;22949514;23000965;23060122;23074045;23174932;23245672;23275444;23348212;23364536;23382691;23435428;23556151;23576573;23593299;23667531;23799881;23851497;23904343;24075062;24123847;24204904;24250222;24285714;24286138;24327545;24418192;24503755;24525513;24585572;24816145;24832165;25007146;7627549;7739891;7801128;8709224;8804307;8895581;9128241;9448295;9584200;9710619;9744861;9845365;9891079;9892189 6598 AAB34227;B5MCL5;C9JTA6;G5E975;Q12824;Q9H836 AB017523;ABBA01055121;ABBA01055122;ABBA01055123;ABBA01055124;AJ011737;AJ011738;AK021419;AK024025;AK299411;AK303620;AL389878;AL389881;AMYH02038133;AMYH02038134;AMYH02038135;AP000349;AP000350;AU143041;AY207470;AY207471;AY207472;AY562997;BC117114;BC143667;BG705851;CH471095;CR456581;DQ230988;NG_009303;NM_001007468;NM_003073;R37717;Y17118 AAB34227;AAI17115;AAI43668;AAO59166;AAO59167;AAO59168;AAS75587;ABB02184;ADR82978;BAB14784;BAC77068;BAG51033;BAG61393;BAG64629;CAA09758;CAA09759;CAA76639;CAG30467;CAK54611;CAK54910;EAW59605;EAW59606;EAW59607;EAW59608;NP_001007469;NP_003064;Q12824 Hs.534350 1680593;1683126;2163599;2185030;2185032 A006E25;G20745;RH80266;RH80678;SHGC-33862 BAF47;INI1;MRD15;PPP1R144;RDT;RTPS1;SNF5;SNF5L1;SWNTS1;Sfh1p;Snr1;hSNF5;hSNFS BRG1-associated factor 47;OTTHUMP00000198410;OTTHUMP00000198411;OTTHUMP00000198412;OTTHUMP00000198413;SNF5 homolog;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1;SWI/SNF-related matrix-associated protein;integrase interactor 1 protein;malignant rhabdoid tumor suppressor;sucrose nonfermenting, yeast, homolog-like 1 APPROVED protein-coding ENSG00000099956 HGNC:11103 03364 162091;601607;609322;614608 REVIEWED 1318766 SMC1B structural maintenance of chromosomes 1B SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008] 22 22 22 q13.31 29651346 29720883 - 45739944 45809500 - 45344063 45413619 - 1580863;6480464;6907045;8554872 10591208;11329013;11564881;12477932;12759374;14660695;15125634;18029348;20819778;21110914;21875947 27127 Q8NDV3 ABBA01007137;AJ504806;AK125736;AL008718;AL021391;AL704843;AMYH02038518;AMYH02038519;BC126208;BG194018;CH471138;KF457480;KF511467;NM_001291501;NM_148674;XM_005261566;XR_244368 AAI26209;BAC86266;CAD43404;EAW73381;EAW73382;EAW73383;NP_001278430;NP_683515;Q8NDV3;XP_005261623 Hs.334176 1644388;1710198;1733246;1747481;1747483;1854724 AL008659;D22S597;D22S598;G65366;G65367;SHGC-83724 FLJ43748;SMC-1-beta;SMC-1B;SMC1BETA;SMC1L2;bK268H5;bK268H5.5 OTTHUMP00000199851;OTTHUMP00000199852;SMC protein 1B;SMC1 (structural maintenance of chromosomes 1, yeast)-like 1;SMC1 structural maintenance of chromosomes 1-like 2;mitosis-specific chromosome segregation protein like protein beta;structural maintenance of chromosomes protein 1B APPROVED protein-coding ENSG00000077935 HGNC:11112 10564 608685 VALIDATED 1313743 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35445555 35465686 - 38781214 38805658 - 40627720 40647851 - 6480464;7240710;8554872;8694154;9495920 21358755;23355908 10078207;11003653;11018012;11078522;11147808;11256614;11726552;11734557;12110891;12145209;12192000;12244326;12477932;12637547;12672490;12917342;14530271;14559996;14623284;14702039;14729568;14743216;15140983;15231748;15314177;15489334;15696166;15743818;15985610;16051670;16055720;16135788;16199878;16217013;16287714;16538531;16769725;16919237;16940996;17043677;17363140;17669635;18029348;18559499;18809673;19164553;19321449;19471022;19505873;19609353;19650111;19759913;20130577;20305087;20360068;20460533;20460684;20829358;21139048;21145461;21465167;21532573;21549307;21693764;21890473;21906983;21963094;22419023;22505724;22939629;23000965;23377182;23443559;23493350;23556151;24457600;24550385;24583282;24654937;24816145;8804307;8895581;9435219;9845365 6605 B4DGM3;H7C048;J3KS99;J3KT85;J3QKS7;J3QKX6;J3QL66;J3QR61;J3QS32;K7EMQ8;Q969G3 ABBA01031823;AC004585;AC073508;AF035262;AK001532;AK095047;AK294218;AK294666;AMYH02033403;BC007082;BC011017;BC047731;BC063700;BC069196;BQ707908;BT007176;CH471152;EU327017;EU327018;EU327019;EU327020;EU327021;NG_032163;NM_003079 AAC04509;AAH07082;AAH11017;AAH63700;AAP35840;ABM81638;ABM84407;ABM84820;ABM87381;ACA81391;ACA81392;ACA81393;ACA81394;ACA81395;BAG50933;BAG52975;BAG57525;BAG57834;EAW60670;EAW60671;NP_003070;Q969G3 Hs.743978 1699156;1733466;1798208;1856574;2120957 A002R45;D17S1237;RH103157;SMARCE1_2145;STS-AA035420 BAF57;FLJ35648 BRG1-associated factor 57;OTTHUMP00000164519;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1;chromatin remodeling complex BRG1-associated factor 57 APPROVED protein-coding HGNC:11109 04382 603111;607174 REVIEWED 8663130 SMC2-AS1 SMC2 antisense RNA 1 (head to head) 9 9 q31.1 106842305 106854755 - 104078031 104093063 - 14702039 101928550 ABBA01042838;AK125887;AL161791;AMYH02021373;HG502325;HG502326;NR_121580;XR_242661;XR_250523;XR_252630;XR_426423;XR_428584;XR_432482 Hs.144722 ncrna ENSG00000270332 HGNC:50827 VALIDATED 5129400 SMARCE1P6 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 6 2 2 2 p23.3 26212304 26213831 + 26371961 26374141 + 26149092 26151272 + 646196 ABBA01045174;AC011742;AMYH02003456;NG_028933 pseudo HGNC:39737 INFERRED 1354451 SMC3 structural maintenance of chromosomes 3 This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008] 10 10 10 q25 106059046 106095991 + 112327449 112364392 + 110567691 110604634 + 1580863;6480464;6907045;7240710;8699517;8554872 10801778;10931856;11042152;11076961;11483963;11564881;11590136;11877376;11983169;12198550;12477932;12498344;12651860;12759374;15125634;15164054;15635413;15656913;15737063;15837422;15855230;15917200;16043481;16156898;16159877;16385451;16484223;16682347;16802858;17043677;17081288;17112726;17113138;17148452;17273969;17349791;17353931;17478428;17925232;17962804;18247557;18299561;18442975;18614053;18727658;18832153;18996922;19094982;19444697;19454010;19615732;19906707;19907496;20085707;20301283;20301533;20358602;20360068;20473970;20562859;20720539;20811636;20818333;20936779;21043528;21081666;21111234;21126432;21139048;21145461;21252943;21319273;21549307;21875947;21880767;21890473;21906983;21907836;21963094;22145905;22268729;22615490;22678362;22751501;22797925;22939629;22965847;23000965;23022380;23106691;23349634;23667531;23752268;23776448;24255178;24332808;24335498;24457600;24816145;25027693;9015313;9506951;9528857;9789013 9126 Q86VX4;Q9UQE7 ABBA01063026;AF020043;AF067163;AJ005015;AK289771;AK315845;AL359260;AMYH02023797;AMYH02023798;BC047324;CA439554;CH471066;NG_012217;NM_005445 AAC14893;AAD32447;AAH47324;BAF82460;BAF98736;CAA06289;EAW49557;EAW49558;NP_005436;Q9UQE7 Hs.24485 1700274;5491995 RH103755;SMC3-1 BAM;BMH;CDLS3;CSPG6;HCAP;SMC-3;SMC3L1 OTTHUMP00000020477;SMC protein 3;basement membrane-associated chondroitin proteoglycan;chondroitin sulfate proteoglycan 6 (bamacan);chromosome-associated polypeptide;structural maintenance of chromosomes protein 3 APPROVED protein-coding ENSG00000108055 HGNC:2468 05829 606062;610759 REVIEWED 1315434 SMC4 structural maintenance of chromosomes 4 Members of the structural maintenance of chromosomes, or SMC, family (e.g., SMC1A; MIM 300040) are critical for mitotic chromosome condensation in frogs and for DNA repair in mammals.[supplied by OMIM, Nov 2010] 3 3 3 q26.1 158538797 158574108 + 160117078 160152755 + 160399304 160434967 + 1580863;6480464 10319587;10958694;11136719;11230166;11321372;11850403;12477932;14532007;14702039;15148359;16196087;16565220;17043677;17113138;17268547;17314511;17488335;18029348;18247557;19454010;19596686;20585571;20800603;21139048;21150319;21252943;21319273;21382013;21693764;21890473;21906983;21963094;22145905;22268729;22505724;22586326;22842912;22863883;22939629;23000965;23752268;23862649;24239288;24250222;24332808;24457600;24639526;24816145;25027693;8125298;9789013 10051 B3KXX5;C9IYK2;C9J578;C9J9E4;C9JJ64;C9JR83;C9JVD8;C9JWF0;E9PD53;F8WCB7;Q58F29;Q9NTJ3 AB019987;ABBA01058796;AC024221;AF092564;AK002200;AK026361;AK122939;AK128143;AK225437;AK307508;AK315070;AL136877;AL833949;AMYH02008018;BC001557;BC065259;BC070161;BC106033;BI090399;BQ575962;CH471052;DB444342;NM_001002800;NM_001288753;NM_005496;XM_006713459 AAC72361;AAH01557;AAH65259;AAH70161;AAI06034;AAI46371;AAI48797;BAA73535;BAG53807;BAG54637;CAB66811;CAD38803;EAW78639;EAW78640;EAW78641;EAW78642;NP_001002800;NP_001275682;NP_005487;Q9NTJ3;XP_006713522 Hs.58992 2160897;2182513;5017227;5124856 G38154;RH98841;SHGC-52508;STS-W93650 CAP-C;CAPC;SMC-4;SMC4L1;hCAP-C OTTHUMP00000213837;OTTHUMP00000213838;OTTHUMP00000213841;OTTHUMP00000213842;SMC protein 4;SMC4 structural maintenance of chromosomes 4-like 1;XCAP-C homolog;chromosome-associated polypeptide C;smc4 structural maintenance of chromosomes 4-like 1 (yeast);structural maintenance of chromosomes protein 4 APPROVED protein-coding ENSG00000113810 HGNC:14013 09276 605575 VALIDATED 7246425 SMC5-AS1 SMC5 antisense RNA 1 (head to head) 9 9 72830975 72873790 - 70216059 70258874 - 12477932;14702039 100507299 ABBA01033820;ABBA01033821;AI984490;AK124136;AL158153;AL162390;AMYH02020950;AMYH02020951;BC040840;CR936772;NR_039990 Hs.556816;Hs.734108 1661241;2163636;5015607;5015609;5015615;5015661;5019288;5115198;5118384;5118686 D11S2442;D11S3014;D11S3026;D11S3076;D11S3243;D11S3553;D3S3184;DXS7960;RH47183;STS-N33222 MAMDC2-AS2 ncrna HGNC:48718 VALIDATED 1316718 SMC5 structural maintenance of chromosomes 5 ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN cellular senescence; double-strand break repair via homologous recombination; positive regulation of maintenance of mitotic sister chromatid cohesion; FOUND IN cell junction; chromosome, telomeric region; nucleus; INTERACTS WITH all-trans-retinoic acid; arsenous acid; benzo[a]pyrene 9 9 9 q21.12 43464262 43560152 + 72873878 72969789 + 70258962 70354873 + 6480464 11408570;12168954;12477932;14702039;15164053;15489334;15601840;16055714;16344560;16810316;17589526;18086888;18667531;19471022;19502785;19861517;20360068;20379614;21139048;21550342;21890473;21900206;21906983;21963094;22505724;22751501;22939629;23000965;24250222;24258023;24816145;9628581 23137 Q8IY18 AA709087;AB011166;ABBA01033821;AJ310550;AK055825;AK304133;AL162390;AMYH02020951;BC017666;BC020393;BC034441;BC038225;CH471089;DB220819;DB318469;NM_015110;XM_005251837;XM_005251838;XM_005251839 AAH17666;AAH38225;ABM84290;ABM87767;BAA25520;BAG65027;CAC39247;EAW62501;EAW62502;NP_055925;Q8IY18;XP_005251894;XP_005251895;XP_005251896 Hs.534189;Hs.601181 1650126;1664462;1855006;2111198;5015961 D15S1477;D9S1695;D9S308E;SHGC-24172;STS-D29466 KIAA0594;SMC-5;SMC5L1;hSMC5 OTTHUMP00000021442;SMC protein 5;SMC5 structural maintenance of chromosomes 5-like 1;smc5 structural maintenance of chromosomes 5-like 1 (yeast);structural maintenance of chromosomes protein 5 protein-coding ENSG00000198887 HGNC:20465 10241 609386 VALIDATED 5129406 SMARCE1P4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 4 8 8 8 p11.23 35905601 35906911 + 36952615 36953925 + 37095097 37096407 + 642879 ABBA01023575;AC092818;AMYH02017808;NG_011598 pseudo HGNC:39735 INFERRED 1604495 SMCO1 single-pass membrane protein with coiled-coil domains 1 FOUND IN integral component of membrane (inferred) 3 3 3 q29 194816034 194824582 - 196233750 196242237 - 196506879 196515366 - 12477932;15489334 255798 F8WEP5;Q147U7 ABBA01033741;ABBA01033742;ABBA01033743;AC092933;AK123917;AK291522;AL833140;AL833443;AMYH02008488;BC118556;BC118636;NM_001077657;XM_005269315 AAI18557;AAI18637;BAF84211;BAG53982;NP_001071125;Q147U7;XP_005269372 Hs.631933 2153866 RH41804 C3orf43;DKFZp313B0440;FLJ41923;MGC141734;MGC141735;SMCO1 OTTHUMP00000208310;hypothetical protein LOC255798;single-pass membrane and coiled-coil domain-containing protein 1;uncharacterized protein C3orf43 APPROVED protein-coding ENSG00000214097 HGNC:27407 VALIDATED 1348890 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 19 19 19 p13.2 10966440 11067798 + 11071598 11172958 + 10960922 11062282 + 1580863;2302032;2302526;2302527;2302528;5147892;6480464;7240710;8554872;8694154;8699517;9495920;9479075;9586347;9586349 11306337;12684665;15287030;16793760;17075831;21358755;23355908;23702776;23853776;24686119 10078207;10204490;10619021;10688647;10778858;10943845;10944117;11003650;11003653;11013263;11018012;11078522;11085541;11108719;11238380;11371506;11414763;11445556;11486022;11532957;11719516;11726552;11734557;11779498;11784859;11805098;11839798;11937040;11950834;11953317;11988099;12044884;12065415;12077331;12154023;12192000;12192045;12200431;12244326;12368262;12411497;12434308;12477932;12493776;12566296;12612078;12620226;12637547;12889071;12917342;14499622;14530259;14530271;14555651;14559996;14603256;14673171;14676191;14701856;14702039;14729568;14743216;14966121;14990991;15034933;15035981;15057824;15075294;15140983;15141164;15150092;15170388;15207703;15231747;15240517;15286705;15302935;15317818;15347669;15485920;15616580;15635413;15731117;15774904;15780937;15781111;15870273;15882967;15887247;15985610;15999204;16024661;16051670;16147992;16195385;16217013;16230384;16252006;16287714;16322236;16424906;16452305;16469706;16513088;16537901;16552721;16565076;16675956;16687403;16730941;16751102;16800816;16824695;16893449;16923960;16932743;16940996;17011493;17023429;17043312;17074803;17081121;17081983;17148452;17182572;17274598;17317669;17353931;17387179;17393431;17468105;17582821;17599918;17643375;17666433;17672918;17723105;17726060;17878164;17938176;18003620;18042045;18086889;18239461;18303029;18345028;18386774;18414052;18451880;18487222;18500344;18508648;18660489;18809673;18816825;19061646;19066270;19081374;19144648;19149898;19183483;19198609;19220418;19342595;19371634;19448667;19454010;19471022;19525936;19596686;19716452;19740755;19762545;19784067;19805516;19901545;19913121;19946888;20011120;20086098;20129940;20130577;20137775;20164218;20195544;20224553;20305087;20333683;20353823;20360068;20418909;20460684;20491765;20506188;20508149;20562864;20571081;20596014;20599239;20628086;20697355;20810930;20829883;20951943;20969766;21079652;21092585;21102582;21118156;21139048;21145461;21252943;21284845;21300803;21317927;21347282;21360626;21378990;21520050;21532573;21549307;21555518;21670149;21683060;21693764;21699904;21730156;21795385;21890473;21900401;21906983;21940037;21963585;22068056;22162999;22192413;22196727;22242598;22262178;22268729;22285184;22334708;22362300;22363625;22403242;22407764;22408259;22425674;22426308;22505724;22563078;22573825;22586326;22668559;22721696;22751105;22814607;22939629;23000965;23022380;23076834;23082233;23088494;23163725;23275444;23276717;23339192;23349796;23392668;23438604;23480510;23533649;23556151;23698369;23775540;23836109;23872584;23897427;23963727;24042015;24190014;24250222;24262325;24362264;24421395;24457600;24550385;24556940;24583282;24658001;24658002;24658004;24700502;24816145;25027693;7739891;7923370;8208605;8232556;8670841;8804307;8856972;8895581;9099865;9128241;9222609;9443979;9584200;9590696;9744861;9845365;9891079 6597 A7E2E1;B3KNW7;K7EP28;K7EQF0;P51532;Q9HBD4 AB209313;ABBA01029877;ABBA01029878;ABBA01029879;ABBA01029880;ABBA01029881;ABBA01029882;ABBA01029883;AC006127;AC011442;AC011485;AF254822;AI695800;AK026573;AK055168;AK097105;AK290033;AK299761;AK303352;AK308763;AMYH02035515;AMYH02035516;AMYH02035517;AMYH02035518;BC007302;BC035916;BC136644;BC139917;BC139924;BC150298;BG396607;BQ009907;CH471106;CT005139;D26156;EU430756;EU430757;EU430758;EU430759;KC877700;NG_011556;NM_001128844;NM_001128845;NM_001128846;NM_001128847;NM_001128848;NM_001128849;NM_003072;U29175;XM_005260028;XM_005260030;XM_005260031;XM_005260032;XM_005260033;XM_005260034;XM_005260035;XM_006722845;XM_006722846;XM_006722847 AAB40977;AAC97986;AAC97987;AAG24789;AAG24790;AAI36645;AAI39918;AAI39925;AAI50299;AAI51850;ACA09750;ACA09751;ACA09752;ACA09753;BAA05143;BAD92550;BAF82722;BAG51479;BAG61650;BAG64413;EAW84162;EAW84163;EAW84164;EAW84165;EAW84166;EAW84167;NP_001122316;NP_001122317;NP_001122318;NP_001122319;NP_001122320;NP_001122321;NP_003063;P51532;XP_005260085;XP_005260087;XP_005260088;XP_005260089;XP_005260090;XP_005260091;XP_005260092;XP_006722908;XP_006722909;XP_006722910 Hs.327527 1672008;1768119;1778097;1783796 D19S1111;D19S991;SHGC-144512;WI-18794 BAF190;BAF190A;BRG1;FLJ39786;MRD16;RTPS2;SNF2;SNF2-beta;SNF2L4;SNF2LB;SWI2;hSNF2b ATP-dependent helicase SMARCA4;BRG1-associated factor 190A;BRM/SWI2-related gene 1;OTTHUMP00000240631;OTTHUMP00000240632;OTTHUMP00000240633;OTTHUMP00000240634;OTTHUMP00000240635;SNF2-like 4;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4;brahma protein-like 1;global transcription activator homologous sequence;homeotic gene regulator;mitotic growth and transcription activator;nuclear protein GRB1;protein BRG-1;protein brahma homolog 1;sucrose nonfermenting-like 4;transcription activator BRG1 APPROVED protein-coding ENSG00000127616 HGNC:11100 04459 603254;613325;614609 REVIEWED 2303335 SMCO2 single-pass membrane protein with coiled-coil domains 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; disodium selenite 12 12 12 p11.23 32765333 32800716 + 27619743 27655118 + 27466810 27502185 + 6480464 16541075 341346 A6NFE2;J3KNC3 ABBA01068048;ABBA01068049;AC068794;AMYH02026246;NM_001145010 A6NFE2;NP_001138482 Hs.282121 1341487;1726103 D12S1042;G62358 C12orf70 OTTHUMP00000240404;OTTHUMP00000240405;hypothetical protein LOC341346;single-pass membrane and coiled-coil domain-containing protein 2;uncharacterized protein C12orf70 APPROVED protein-coding ENSG00000165935 HGNC:34448 VALIDATED 1605173 SMCO3 single-pass membrane protein with coiled-coil domains 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1 12 12 12 p12.3 20102571 20112104 - 14957584 14967116 - 14804650 14814182 - 6480464;8554872 12477932;14702039;15489334;23449627;8889548 440087 A2RU48 ABBA01067886;AC007655;AK092637;AMYH02026095;BC132752;BC132754;BM696674;BU735185;CH471094;NM_001013698 A2RU48;AAI32753;AAI32755;ADR82872;BAC03930;EAW96331;NP_001013720 Hs.220931 2190885 MARC_10307-10308:998934573:1 C12orf69 OTTHUMP00000236006;Uncharacterized protein LOC440087;hypothetical protein LOC440087;single-pass membrane and coiled-coil domain-containing protein 3;uncharacterized protein C12orf69 APPROVED protein-coding ENSG00000179256 HGNC:34401 18442 VALIDATED 1601987 SMCO4 single-pass membrane protein with coiled-coil domains 4 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 5-aza-2'-deoxycytidine 11 11 11 q21 90503166 90568014 - 93211638 93276546 - 93478472 93543380 - 6480464 10863097;12477932;15489334;17207965 56935 E9PQ76;E9PSB8;Q9NRQ5 ABBA01040044;ABBA01040045;AF197137;AMYH02025361;AMYH02025362;AP003499;AP004242;BC031564;CH471065;NM_020179 AAF86046;AAH31564;ADQ32449;EAW66901;EAW66902;EAW66903;EAW66904;EAW66905;NP_064564;Q9NRQ5 Hs.438064 1342145;1663016;1688724;1721509;1745943;1776757;2142821;2152899;5094262 D11S1386;D17S930;G54672;G59609;G64291;RH39276;RH70343;SHGC-58127;g04502m C11orf75;FN5 OTTHUMP00000235952;OTTHUMP00000235955;UPF0443 protein C11orf75;hypothetical protein LOC56935;single-pass membrane and coiled-coil domain-containing protein 4 APPROVED protein-coding ENSG00000166002 HGNC:24810 17008 609477 VALIDATED 1313128 SMC2 structural maintenance of chromosomes 2 Members of the structural maintenance of chromosomes, or SMC, family (e.g., SMC1A; MIM 300040) are critical for mitotic chromosome condensation in frogs and for DNA repair in mammals.[supplied by OMIM, Nov 2010] 9 9 9 q31.1 77361453 77408608 + 106856213 106903700 + 104094260 104141419 + 1580863;6480464;7240710 10958694;11136719;12477932;12589063;14532007;14660695;14702039;15148359;15635413;17043677;17113138;17268547;17314511;17353931;17488335;17653272;18247557;19056867;19454010;20823528;21139048;21194474;21252943;21504906;21618603;21633354;21890473;21906983;21988832;22145905;22268729;22505724;22797925;22863883;22939629;22990118;23000965;23095742;23667531;23956138;24332808;24483146;24483990;24816145;9789013 10592 A8K984;B3KMB1;B7ZLZ7;O95347;Q05BV1;Q05D74;Q5T821;Q6IPS5;Q7Z2X1 ABBA01042838;AF092563;AF113673;AJ420415;AJ420453;AK000955;AK001485;AK124957;AK292599;AK307752;AL161791;AL354938;AL833191;AMYH02021373;AY739716;BC003396;BC017845;BC032705;BC055081;BC061906;BC071750;BC107891;BC130385;BC144163;BF969462;BN000163;CH471105;NM_001042550;NM_001042551;NM_001265602;NM_006444;U46075;XM_006716933 AAA86843;AAC72360;AAF29579;AAH03396;AAH17845;AAH32705;AAH55081;AAH61906;AAH71750;AAI07892;AAI30386;AAI44164;AAW65985;BAF85288;BAG50839;BAG50923;CAD89875;CAI46187;EAW58973;EAW58974;EAW58975;EAW58976;EAW58977;NP_001036015;NP_001036016;NP_001252531;NP_006435;O95347;XP_006716996 Hs.119023 1665243;1681504;1853707;2147966;5106941 1712;A006V39;RH64831;SGC33405;WI-14706 CAP-E;CAPE;FLJ10093;SMC-2;SMC2L1;hCAP-E OTTHUMP00000021818;OTTHUMP00000021819;SMC protein 2;SMC2 (structural maintenance of chromosomes 2, yeast)-like 1;SMC2 structural maintenance of chromosomes 2-like 1;XCAP-E homolog;chromosome-associated protein E;smc2 structural maintenance of chromosomes 2-like 1 (yeast);structural maintenance of chromosomes (SMC) family member, chromosome-associated protein E;structural maintenance of chromosomes protein 2 APPROVED protein-coding ENSG00000136824 HGNC:14011 09277 605576;615222 VALIDATED 737432 SMCP sperm mitochondria-associated cysteine-rich protein Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the midpiece of the sperm flagellum. The protein encoded by this gene localizes to the capsule associated with the mitochondrial outer membranes and is thought to function in the organization and stabilization of the helical structure of the sperm's mitochondrial sheath. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 125921062 125927787 + 152850798 152857523 + 152878322 152885047 + 1580863;6480464 10411523;11375445;11940662;12477932;1418626;15489334;16189514;16325371;17047026;18029348;24244262;2715306;8833144;8916043 4184 P49901;Q5T7P5 ABBA01049426;ABBA01049427;AC246972;AK312020;AL162596;BC014593;BC016744;CH471121;NM_030663;X89960;X89961 AAH14593;AAH16744;ABM81714;ABM84870;BAG34957;CAA62000;CAD56487;EAW53361;NP_109588;P49901 Hs.111850 1856631;2161434 G34873;SGC35666 HSMCSGEN1;MCS;MCSP;MGC26305;MGC26519 OTTHUMP00000014403;mitochondrial capsule selenoprotein;sperm mitochondrial-associated cysteine-rich protein APPROVED protein-coding ENSG00000163206 HGNC:6962 03093 601148 REVIEWED 1346026 SMCR Smith-Magenis syndrome chromosome region ASSOCIATED WITH Smith-Magenis Syndrome (inferred) 7240710 6600 HGNC:11113 182290 1345469 SMCR2 Smith-Magenis syndrome chromosome region, candidate 2 11997338 140768 AI821758 Hs.369680 protein-coding HGNC:17914 737070 SMC1A structural maintenance of chromosomes 1A Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] X X X p11.22-p11.21 57232626 57281175 - 53401070 53449677 - 53374149 53422728 - 1580863;6480464;6907045;8554872;8699517 10409732;10931856;11076961;11483963;11564881;11590136;11682612;11790298;11877376;11877377;12168954;12198550;12199140;12226669;12477932;12607005;12759374;12930902;14657349;14702039;15302935;15342556;15489334;15546961;15635413;15640246;15737063;15772651;15837422;15855230;15917200;16043481;16159877;16226712;16242161;16391231;16438930;16604071;16623664;17102637;17106445;17112726;17113138;17148452;17242407;17273969;17349791;17353931;17544403;17925232;18029348;18219272;18239623;18247557;18299561;18385154;18763866;18781797;18832153;18996922;19052029;19308699;19414588;19468298;19596686;19615732;19701948;20016259;20085707;20159591;20301283;20301533;20358602;20360068;20514443;20562859;20635401;20670891;20720539;20818333;21043528;21056556;21081666;21139048;21145461;21319273;21549307;21757780;21875947;21880767;21890473;21906983;21963094;22053931;22145905;22178446;22268729;22505724;22751105;22751501;22863883;22939629;22965847;23000965;23022380;23106691;23125841;23349634;23602568;23638217;23717600;23752268;23754617;23776448;23863341;24124034;24255178;24332808;24457600;24816145;25015289;25027693;7757074;7757075;8076819;8724849;9295362;9789013 8243 G8JLG1;H0Y7K8;Q14683;Q68EN4;V9GY57;V9GYN9 ABBA01056410;ABBA01056411;ABBA01056412;ABBA01056413;ABBA01056414;ABBA01056415;ABBA01056416;AC233728;AF176781;AK055575;AK056308;AK091458;AK291921;AK301266;AL161779;AMYH02039463;AMYH02039464;BC064368;BC080185;BC112127;BC171726;BP312805;BQ232418;BX640922;CH471154;D80000;NG_006988;NM_001281463;NM_006306;S78271;Z97054 AAB34405;AAH64368;AAH80185;AAI12128;AAQ13659;ADR83441;BAA11495;BAF84610;BAH13445;CAE45960;CAI42089;CAI42645;CAI42646;EAW93149;EAW93150;EAW93151;NP_001268392;NP_006297;Q14683 Hs.211602 1650165;1652438;1675013;1678843;1702122;1796846;2114635;7183975 AL023613;DXS423;RH25393;RH26243;SMC1L1__1206;STS-T70312;WI-13565 CDLS2;DKFZp686L19178;DXS423E;KIAA0178;MGC138332;SB1.8;SMC-1-alpha;SMC-1A;SMC1;SMC1L1;SMC1alpha;SMCB OTTHUMP00000023351;SMC protein 1A;SMC1 (structural maintenance of chromosomes 1, yeast)-like 1;SMC1 structural maintenance of chromosomes 1-like 1;segregation of mitotic chromosomes 1;smc-like 1 (yeast);structural maintenance of chromosomes protein 1A APPROVED protein-coding ENSG00000072501 HGNC:11111 02077 300040 REVIEWED 1343673 SMCR3 Smith-Magenis syndrome chromosome region, candidate 3 11997338 140769 AA609047 protein-coding HGNC:17915 1352395 SMCR4 Smith-Magenis syndrome chromosome region, candidate 4 10737800;11997338 140770 BG992883 protein-coding HGNC:17917 1352378 SMCR5 Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding) INTERACTS WITH valproic acid 17 17 17 18619464 18622306 - 17680000 17682843 - 17776686 17779529 - 6480464 11997338 140771 Q8TEV8 ABBA01009747;AC122129;AF467442;AMYH02033093;CH471196;NR_024007 AAL78339;EAW55697 Hs.352643 NCRNA00034 ncrna ENSG00000226746 HGNC:17918 VALIDATED 1350603 SMCR6 Smith-Magenis syndrome chromosome region, candidate 6 (non-protein coding) 11997338 140772 AJ230805;BF511382;W94594 Hs.660306 APPROVED ncrna HGNC:17919 1344602 SMCR9 Smith-Magenis syndrome chromosome region, candidate 9 17 17 p11.2 17322658 17326728 + 17419344 17423414 + 11997338 140776 P0DM48 ABBA01009760;AC073621;AMYH02033089;NM_001243312 NP_001230241;P0DM48 Hs.740247 hypothetical protein LOC140776;smith-Magenis syndrome chromosomal region candidate gene 9 protein;uncharacterized protein LOC140776 protein-coding HGNC:17913 VALIDATED 1602445 SMDT1 single-pass membrane protein with aspartate-rich tail 1 INVOLVED IN calcium ion transmembrane import into mitochondrion; mitochondrial calcium ion homeostasis; mitochondrial calcium ion transport; FOUND IN integral component of mitochondrial inner membrane; uniplex complex; INTERACTS WITH atrazine; copper(2+) sulfate; tunicamycin 22 22 22 q13.2 26281901 26286490 + 42475695 42480288 + 42079691 42084284 + 6480464 12477932;14702039;15461802;20877624;24231807 91689 F8WDX6;Q9H4I9 ABBA01055661;AK095636;AK312142;AL021878;AL449243;AMYH02038454;BC024237;BI754670;CH471095;CR456453;NM_033318;Z82192 AAH24237;BAG35078;CAC15000;CAG30339;EAW60488;NP_201575;Q9H4I9 Hs.306083 1654752;2132409;2155650;5022200;5022578;5022651 A006U46;D11S2921;D1S1423;L18426;SHGC-32218;STS-N22521 C22orf32;DDDD;EMRE;dJ186O1.1 OTTHUMP00000199677;OTTHUMP00000199678;UPF0466 protein C22orf32, mitochondrial;essential MCU regulator;essential MCU regulator, mitochondrial;hypothetical protein LOC91689;single-pass membrane protein with aspartate-rich tail 1, mitochondrial APPROVED protein-coding ENSG00000183172 HGNC:25055 12385 615588 VALIDATED 1319189 SMEK1 SMEK homolog 1, suppressor of mek1 (Dictyostelium) INVOLVED IN positive regulation of gluconeogenesis (inferred); protein dephosphorylation (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; ethyl methanesulfonate 14 14 14 q32.12 71972721 72025463 - 91923955 91976898 - 91457481 91510554 - 6480464 12477932;14702039;15302935;15489334;16085932;16107728;17353931;18487071;18715871;19156129;20876121;20936779;21139048;21423269;21890473;21988832;22349239;22863883;22939629;23000965;24816145 55671 G3V231;G3V4R3;G3V5A2;G3V5Z3;H0YIY8;H0YJN6;Q6IN85;Q8N6W1 AB095930;ABBA01030478;ABBA01030479;AF113213;AI608781;AK000714;AK001885;AK024297;AL133153;AL832921;AMYH02029745;BC018617;BC022778;BC028088;BC038932;BC072409;BM147425;BX248247;CH471061;NM_001284280;NM_001284281;XM_005267842;XM_006720194;XR_245702;XR_245703 AAG39284;AAH28088;AAH38932;AAH72409;BAA91338;BAA91960;BAB14877;BAC23106;CAD62575;CAH10634;EAW81452;EAW81453;EAW81454;EAW81455;EAW81456;EAW81457;NP_001271209;NP_001271210;Q6IN85;XP_005267899;XP_006720257 Hs.533887 1671480;1687768;1727443;1797114;2115082;2145782;5491505 D14S947;FLJ20707;G35631;G62979;MARC_16316-16317:1017431376:1;RH78410;RH80615 FLFL1;KIAA2010;MSTP033;PP4R3A;smk-1;smk1 OTTHUMP00000245082;OTTHUMP00000245083;OTTHUMP00000245084;OTTHUMP00000245085;OTTHUMP00000245086;serine/threonine-protein phosphatase 4 regulatory subunit 3A protein-coding ENSG00000100796 HGNC:20219 11176 610351 VALIDATED 1603387 SMEK2 SMEK homolog 2, suppressor of mek1 (Dictyostelium) INVOLVED IN positive regulation of gluconeogenesis (inferred); protein dephosphorylation (inferred); regulation of lipid metabolic process (inferred); ASSOCIATED WITH Hypercholesterolemia (ortholog); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); nucleus (inferred); INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 2 2 2 p16.1 55615913 55685202 - 55774428 55844860 - 55547292 55617725 - 2300117;6480464;8554872 18753676 10718198;11230166;12477932;14702039;15489334;15616564;15815621;16085932;16107728;16169070;16344560;16964243;17353931;18029348;18614045;18715871;19156129;20876121;21139048;21890473;22399527;22491012;22863883;22939629;23000965 57223 Q5MIZ7 AB037808;ABBA01075270;ABBA01075271;ABBA01075272;AC015982;AK023148;AK026437;AK056036;AK056503;AK098321;AK296481;AL122106;AL136556;AMYH02003856;AMYH02003857;AMYH02003858;AY825268;AY825269;BC006215;BC032531;BC045714;BC060855;BE535214;CH471053;DA392286;DB261776;KF510821;NM_001122964;NM_001282850;NM_020463;XM_005264442;XM_005264444;XM_005264445;XM_005264446;XM_005264447;XM_005264448 AAH06215;AAH45714;AAH60855;AAV97750;AAV97751;AAY24270;BAA92625;BAB14430;BAG59121;CAB66491;EAX00090;EAX00091;EAX00092;EAX00093;EAX00094;EAX00095;EAX00096;NP_001116436;NP_001269779;NP_065196;Q5MIZ7;XP_005264499;XP_005264501;XP_005264502;XP_005264503;XP_005264504;XP_005264505 Hs.516182;Hs.654969 1647429;1667535;1686800;1701314;1797132;1847099;2120356 D2S2860;D3S4227;KIAA1387;RH104286;RH36367;RH64990;SHGC-37373 FLFL2;FLJ31474;KIAA1387;PP4R3B;PSY2;smk1 OTTHUMP00000159688;OTTHUMP00000159689;OTTHUMP00000201233;serine/threonine-protein phosphatase 4 regulatory subunit 3B protein-coding ENSG00000275052 HGNC:29267 13854 610352 VALIDATED 7825835 SMCO4P1 single-pass membrane protein with coiled-coil domains 4 pseudogene 1 17 17 17 q21.31 39433208 39433387 + 42722634 42723786 + 44645266 44646418 + 728675 ABBA01028358;AC091152;AMYH02033491;NG_029317 pseudo HGNC:49559 INFERRED 1602982 SMEK3P SMEK homolog 3, suppressor of mek1 (Dictyostelium) pseudogene X X X p21.3 31606919 31610049 - 27478328 27481458 - 27460211 27463341 - 14702039 139420 Q6ZMV5 ABBA01072648;AC006210;AK057429;AK131475;AMYH02039075;NR_002784 BAB71482;BAD18620 Hs.350673 FLFL3P;FLJ32867;smk1 pseudo HGNC:33146 09960 PROVISIONAL 6769498 SMG1P1 SMG1 pseudogene 1 INTERACTS WITH zinc atom; zinc(0) 16 16 16 p12.2 18016935 18086137 - 22448329 22503541 + 22437008 22492220 + 6480464 12477932;15489334;21906983;9039502 641298 ABBA01003839;AC106788;AC241410;AK300040;AL834164;BC090929;BX647335;NR_027154 AAH90929;BAG61851;CAD38867;CAH10385 Hs.552700 1687724;1749279;2127409;5106365;5109779;5112199;5119156 D16S2541E;D16S2930E;RH102308;RH65949;SHGC-110958;SHGC-32944;SHGC-37696 APPROVED pseudo ENSG00000237296 HGNC:44186 PROVISIONAL 8549384 SMG1P2 SMG1 pseudogene 2 16 16 16 p11.2 18017360 18056040 - 29538929 29577540 - 29527608 29566219 - 12477932;14702039 440354 ABBA01013132;AC009086;AC133555;AC243806;AC245044;AF271775;AK096982;AK097897;AK304513;BX640895;NR_002473 AAG44786;BAG65319 Hs.552700;Hs.655267 pseudo ENSG00000205534 HGNC:49859 PROVISIONAL 8549352 SMG1P4 SMG1 pseudogene 4 16 16 21890658 21927345 - 21879337 21916024 - 100507526 AC092375;AC241988;NG_027945 pseudo HGNC:49861 INFERRED 8549231 SMG1P3 SMG1 pseudogene 3 16 16 16 p12.2 18016935 18086089 - 21458004 21513602 - 21446683 21502281 - 12009310;12477932 100271836 ABBA01017733;AC005632;AC008740;AC241400;BC055086;NR_027155 Hs.552700;Hs.726692 pseudo ENSG00000180747 HGNC:49860 PROVISIONAL 8549169 SMG1P5 SMG1 pseudogene 5 16 16 16 p11.2 29952171 29952569 + 30278914 30346695 - 30267593 30335374 - 10493829;12477932;15342556 595101 ABBA01042019;AC106782;AC243825;AC244227;AK289905;AK311534;BC063703;NR_002453 BAF82594 Hs.654650;Hs.655267 pseudo HGNC:49862 PROVISIONAL 8549096 SMG1P6 SMG1 pseudogene 6 16 16 29438266 29451506 - 29404087 29440182 - 101928094 ABBA01005930;AC025279;AC133555;AC245044 pseudo HGNC:49863 MODEL 1602127 SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013] 16 16 16 p12.3 17969910 18086089 - 18816175 18937748 - 18804853 18926426 - 6480464;6907045;8554872 10428027;10493829;10737800;11331269;11544179;11948212;12168954;12477932;12554878;14636577;14702039;15175154;15231748;15279777;16344560;16452507;16488880;17229728;18160036;18256688;18326048;18332866;18423202;19322201;19406746;19417104;19765550;20371770;20427287;20639865;20723581;20864032;21139048;21245168;21307779;21418860;21701263;21890473;21906983;21911475;21963094;21987572;22247495;23277562;23443559;23583196;24107632;24173962;24185201;24204929;24816145;8524286;9455477;9566925 23049 E9PNP6;H3BPS6;H3BQN7;H3BR09;I3L0W2;I3L144;I3L400;J3KRA9;Q96Q15 AB007881;AB061371;ABBA01028242;ABBA01028243;ABBA01028244;ABBA01028245;ABBA01028246;ABBA01028247;ABBA01028248;ABBA01028249;AC026472;AC092287;AC138811;AF186377;AF395444;AK025794;AK057563;AK074359;AK123332;AL833298;AMYH02031628;AMYH02031629;AMYH02031630;AMYH02031631;AMYH02031632;AMYH02031633;AW088221;AW503964;AY014957;BC037335;BC047629;BE079340;BF333707;BU633006;CA868047;CH471186;DA433527;DA854035;NM_015092;U32581;XM_005255182;XM_005255183;XM_005255184;XM_005255185 AAA86535;AAI56498;AAK00511;AAK58892;AAM73708;BAA24851;BAB70696;EAW50260;EAW50262;NP_055907;Q96Q15;XP_005255239;XP_005255240;XP_005255241;XP_005255242 Hs.460179 1342365;1654393;1687724;1716453;1749279;1765789;1773014;1796848;1855147;2127409;5014051;5022651;5022723;5037552;5112199;5114620;5124491 Cda0uf06;D11S2921;D16S3056;D16S3241;D16S3313;D8S2278;D8S2279;RH102308;RH121406;RH65949;RH66032;RH68916;SHGC-110958;SHGC-149218;SHGC-37696;SMG1;SMG1_1253 61E3.4;ATX;KIAA0421;LIP;SMG-1;hSMG-1 OTTHUMP00000234388;PI-3-kinase-related kinase SMG-1;SMG1 homolog, phosphatidylinositol 3-kinase-related kinase;lambda-interacting protein;lambda/iota protein kinase C-interacting protein;phosphatidylinositol 3-kinase-related kinase;phosphatidylinositol 3-kinase-related protein kinase;serine/threonine-protein kinase SMG1;smg-1 homolog, phosphatidylinositol 3-kinase-related kinase APPROVED protein-coding ENSG00000157106 HGNC:30045 06123 607032 REVIEWED 8549296 SMG1P7 SMG1 pseudogene 7 16 16 q22.1 70253484 70259936 - 70219581 70226033 - 14702039 100506060 ABBA01010675;ABBA01010676;ABBA01010677;AC009060;AK128245;AK308867;AMYH02032294;NR_033959 Hs.655258;Hs.723071 pseudo ENSG00000261556 HGNC:49864 VALIDATED 1603683 SMG5 SMG5 nonsense mediated mRNA decay factor SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008] 1 1 1 q21.2 129291997 129325601 - 156219015 156252676 - 156249224 156286655 - 6480464;6907045;8554872 10470851;12168954;12477932;12676087;12699629;14636577;14702039;15489334;15546618;15721257;15824131;16488880;16710414;16809764;17053788;19725029;20139978;20371770;21145460;21832049;21963094 23381 Q9UPR3 AB029012;AB085691;ABBA01016664;ABBA01016665;AK025988;AK026395;AK027486;AK092183;AL135927;AL137738;AL589685;AMYH02001968;AY168922;AY336728;BC007292;BC007453;BC038296;CH471121;CT000143;NM_015327;XM_005245049;XM_006711248 AAH07453;AAH38296;AAO17582;AAQ84301;BAA83041;BAB55147;BAC53623;CAH56374;EAW52973;EAW52974;NP_056142;Q9UPR3;XP_005245106;XP_006711311 Hs.516837 1690252;1851717;2149220 RH27735;SHGC-37183;STS-F04957 EST1B;FLJ12287;FLJ34864;KIAA1089;LPTS-RP1;LPTSRP1;RP11-54H19.7;SMG-5;hSMG-5 EST1 telomerase component homolog B;EST1-like protein B;Est1p-like protein B;LPTS interacting protein;LPTS-interacting protein;OTTHUMP00000018886;ever shorter telomeres 1B;smg-5 homolog, nonsense mediated mRNA decay factor APPROVED protein-coding ENSG00000198952 HGNC:24644 16869 610962 VALIDATED 1320039 SMG6 SMG6 nonsense mediated mRNA decay factor This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014] 17 17 17 p13.3 1979148 2222926 - 1963133 2207069 - 2059839 2303775 - 6480464;6907045 11087658;12168954;12477932;12554878;12676087;12699629;14636577;14702039;15489334;15721257;16344560;16488880;16809764;16820686;17053788;17557331;17940095;18029348;18974281;19018238;19060897;19584346;19913121;20628086;20930030;21145460;21378990;21382349;21906983;22011238;22190034;22504420;22960999;23319000;23667531;23974872;24086375;24250222;24262325;24816145;9872452 23293 I3L176;I3L1W8;I3L355;I3L390;I3L3A9;I3L421;K7EKV2;K7ELM2;K7ENH7;Q86US8 AB018275;ABBA01054691;ABBA01054692;ABBA01054693;ABBA01054694;ABBA01054695;ABBA01054696;ABBA01054697;ABBA01054698;ABBA01054699;AC090617;AK024131;AK074270;AK093007;AK302964;AL080204;AL133597;AL450226;AMYH02032762;AMYH02032763;AMYH02032764;AMYH02032765;AMYH02032766;AMYH02032767;AMYH02032768;AMYH02032769;AMYH02032770;AMYH02032771;AMYH02032772;AU120859;AY145883;AY168921;BC064916;CH471108;CQ834790;DB333407;KF456221;KF456223;KF456224;KF456235;NG_033980;NM_001256827;NM_001256828;NM_001282326;NM_017575;XM_005256569;XM_005256570;XM_005256571;XM_006721493;XM_006721494;XM_006721495 AAH64916;AAI48374;AAN46114;AAO17581;BAA34452;BAB14835;BAH13860;CAB63733;CAH05610;EAW90557;EAW90559;NP_001243756;NP_001243757;NP_001269255;NP_060045;Q86US8;XP_005256626;XP_005256627;XP_005256628;XP_006721556;XP_006721557;XP_006721558 Hs.448342 1341878;1676900;1681602;1729562;1746071;1746081;1776421;1783564;1846835;1856304;2172511;2180113;2190835;5022651 D11S2921;D17S1528;D17S2096;D17S22;G54749;G54750;HIC1;RH36098;RH76358;RH78924;RH80072;SHGC-154919;STS-N29817;WI-11584 C17orf31;EST1A;KIAA0732;SMG-6;hSMG5/7a EST1 telomerase component homolog A;EST1-like protein A;Est1p-like;ever shorter telomeres 1A;smg-6 homolog, nonsense mediated mRNA decay factor;telomerase subunit EST1A;telomerase-binding protein EST1A APPROVED protein-coding ENSG00000070366 HGNC:17809 06502 610963 REVIEWED 1602698 SMG8 SMG8 nonsense mediated mRNA decay factor INVOLVED IN nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; regulation of protein kinase activity; FOUND IN cytosol (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; valproic acid 17 17 17 q22 53749443 53754683 + 57287371 57292611 + 59210010 59215250 + 6480464 12477932;14702039;19417104;20371770;21139048;21245168;21890473;21906983;23620142;23983263 55181 J3KTD7;J3QKP6;Q8ND04 ABBA01041366;AC099850;AF349467;AK001449;AK026858;AL834490;AMYH02033704;BC020957;BC031604;CH471109;NM_018149 AAH20957;AAH31604;AAL83913;ADZ15595;BAA91699;BAB15576;CAD39148;EAW94413;EAW94414;EAW94415;NP_060619;Q8ND04 Hs.7296 1665578;1665580;1691726;1734478;1776221;5491689 A006J47;D17S1438E;G20885;G42209;MARC_7919-7920:996688168:1;RH35809 C17orf71;FLJ10587 amplified in breast cancer gene 2 protein;protein smg-8 homolog;smg-8 homolog, nonsense mediated mRNA decay factor APPROVED protein-coding ENSG00000167447 HGNC:25551 08551 613175 VALIDATED 1601772 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011] 18 18 18 p11.32 2531141 2680454 + 2655886 2805015 + 2655887 2805017 + 6480464;7240710;8554872;8699517 10737800;12477932;16344560;16461635;17567985;19394292;19471022;19596686;19738201;20301616;20379614;21139048;21252943;21693764;21890473;21906983;21963094;22268729;22505724;22586326;22623428;22990118;23000965;23022380;23143600;23269277;23542155;24075187;24128691;24163370;24457600;24639526;24654937;25027693;9734811 23347 A6NHR9;J3KRK8;J3KTK7;J3KTL8;J3QSH1 AB014550;ABBA01049833;ABBA01049834;ABBA01049835;ABBA01049836;AI904018;AK025646;AK126324;AL080138;AMYH02034214;AMYH02034215;AMYH02034216;AP001011;AP005061;AW503637;BC006008;BC035774;BP872870;BU153211;BU509173;CR627458;DA283721;DA675822;DB071574;DN913642;KF511242;NG_031972;NM_015295;XM_005258102;XM_006722321;XR_430039 A6NHR9;BAA31625;BAB15202;BAC86525;CAB45732;CAH10538;NP_056110;XP_005258159;XP_006722384 Hs.8118 1644301;1652568;1654385;1665444;1665518;1672750;1695580;1713857;1749297;1756895;2114436;2149685;2149687;2151884;2159610 D18S1042;RH119360;RH16142;RH45654;RH45745;RH47564;RH77973;SHGC-110970;SHGC-144058;SHGC-31055;SHGC-68828;STS-F04013;STS-N33215;WI-20109;WI-22474 DKFZp686O0631;KIAA0650 SMC hinge domain-containing protein 1;structural maintenance of chromosomes flexible hinge domain-containing protein 1 APPROVED protein-coding ENSG00000101596 HGNC:29090 158901;614982 REVIEWED 6767479 SMIM1 small integral membrane protein 1 (Vel blood group) This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013] 1 1 1 p36.32 2943389 2946586 + 3689352 3692546 + 3772761 3775982 + 6480464 12477932;23505126;23563606;23563608;23720494 388588 B2RUZ4;H3BS66;M4WDD3 ABBA01073653;AI990490;AL365330;AMYH02000138;BC035379;BC042129;BC146945;BC146957;HY003308;HY032469;KC152644;NG_033869;NM_001163724;NM_001288583 AGI15326;B2RUZ4;NP_001157196;NP_001275512 Hs.22047 1692012;2140402;5113437 AL033657;RH91403;SHGC-74073 Vel small integral membrane protein 1;uncharacterized protein LOC388588;vel blood group antigen APPROVED protein-coding ENSG00000235169 HGNC:44204 615242;615264 REVIEWED 6892987 SMG7-AS1 SMG7 antisense RNA 1 INTERACTS WITH zinc atom; zinc(0) 1 1 q25.3 183430009 183441117 - 183460874 183471982 - 6480464 12477932 284649 ABBA01027749;AI793165;AL050020;AL449223;AMYH02002283;BC032873;NR_040063 Hs.127384 1699572 RH103387 DKFZP564C196 ncrna ENSG00000232860 HGNC:24518 VALIDATED 5488264 SMIM10 small integral membrane protein 10 FOUND IN integral component of membrane (inferred); plasma membrane (inferred) X X X q26.3 134511732 134513267 + 134124968 134126503 + 134990938 134992473 + 12477932;21963094 644538 Q96HG1 AA630048;ABBA01042513;ABBA01042514;AMYH02040538;BC008642;BQ016562;CH471107;NM_001163438;Z83826 AAH08642;EAX11741;NP_001156910;Q96HG1 Hs.42239 1699944;2117779 AL008946;RH103580 CXorf69 hypothetical protein LOC644538;putative uncharacterized protein CXorf69 APPROVED protein-coding ENSG00000184785 HGNC:41913 VALIDATED 1351649 SMIM11 small integral membrane protein 11 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 21 21 21 q22.12 20947319 20961025 + 35747749 35761452 + 34375450 34389154 + 6480464 10830953;11707072;12036298;12477932;14702039;15489334;19322201;20379614;21832049;24250222;24816145;7566098 54065 P58511;Q8TCY0 AK057880;AK092693;AMYH02037753;AP000320;AP000321;AP000322;AY033902;AY081143;AY081144;BC015596;BC045820;BC064410;BF795619;BI460535;BM989806;CH471079;KF511406;NM_058182 AAH15596;AAK68720;AAL91137;AAL91138;EAX09785;EAX09786;EAX09787;EAX09788;NP_478062;P58511 Hs.656195 C21orf51;FAM165B OTTHUMP00000108572;OTTHUMP00000108573;chromosome 21 open reading frame 51;family with sequence similarity 165, member B APPROVED protein-coding ENSG00000205670 HGNC:1293 10751 VALIDATED 1321852 SMG7 SMG7 nonsense mediated mRNA decay factor This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011] 1 1 1 q25 156552563 156634375 + 183441506 183523328 + 183472371 183554193 + 6480464;6907045;8554872 11318611;12168954;12477932;12676087;12699629;14636577;14702039;15489334;15546618;15721257;16169070;16344560;16452507;16488880;16710414;17081983;18029348;19322201;20237496;20371770;21139048;21145460;21890473;21906983;21963094;22505724;9039502 9887 B1ALB4;D6R9J3;D6RAD0;E9PBK2;E9PD50;E9PEK3;Q6TV06;Q92540 AB085674;ABBA01027747;ABBA01027748;ABBA01027749;AK056035;AK074297;AK091477;AK297207;AK299178;AK307394;AL137800;AL355387;AL359876;AL449223;AL833675;AMYH02002283;AMYH02002284;AY386363;BC009281;BC015788;BC036381;BC052565;BM152501;CH471067;CN479993;D87437;DB223038;DC380923;NG_029808;NM_001174061;NM_173156;NM_201568;NM_201569;XM_005245647;XM_005245648;XM_005245649;XM_005245652;XM_005245653;XM_005245654;XM_005245655;XM_005245656;XM_006711674;XM_006711675;XM_006711676;XM_006711677;XM_006711678 AAH36381;AAH52565;AAR25620;BAA13381;BAB71079;BAC03672;BAC53621;BAG59692;BAG61224;EAW91154;EAW91155;EAW91156;EAW91157;EAW91158;EAW91159;NP_001167532;NP_775179;NP_963862;NP_963863;Q92540;XP_005245704;XP_005245705;XP_005245706;XP_005245709;XP_005245710;XP_005245711;XP_005245712;XP_005245713;XP_006711737;XP_006711738;XP_006711739;XP_006711740;XP_006711741 Hs.591463 1699572;1712831;1774924;1849021;1855617 AL009653;D1S3351;RH103387;RH120132;SHGC-75977 C1orf16;EST1C;FLJ23717;KIAA0250;SGA56M;SMG-7 EST1 telomerase component homolog C;EST1-like protein C;OTTHUMP00000033159;OTTHUMP00000033244;OTTHUMP00000033245;OTTHUMP00000217155;OTTHUMP00000217156;OTTHUMP00000217157;OTTHUMP00000226607;breast cancer-associated antigen SGA-56M;ever shorter telomeres 1C;smg-7 homolog, nonsense mediated mRNA decay factor APPROVED protein-coding ENSG00000116698 HGNC:16792 10723 610964 REVIEWED 1346186 SMIM11P1 small integral membrane protein 11 pseudogene 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); lead diacetate (ortholog) 6 6 6 q14.3 86872118 86872977 - 86444927 86445786 - 85735209 85736068 - 6480464 14574404;20379614;24816145 100127905 Q5T5W8 ABBA01040478;AL355615;AMYH02014039;NG_012759 Q5T5W8 C6orf161;FAM165A;bA33E24.4 family with sequence similarity 165, member A APPROVED pseudo HGNC:21400 INFERRED 1322555 SMC6 structural maintenance of chromosomes 6 ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN cellular senescence; telomere maintenance via recombination; FOUND IN chromosome, telomeric region; intracellular; nucleolus; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; copper atom 2 2 2 p24.2 17724884 17815383 - 17845079 17935096 - 17663812 17753829 - 1580863;6480464 11076863;11230166;11256614;11408570;12477932;12938929;14701739;14702039;14968112;15489334;15489336;15815621;16055714;16381901;16810316;17589526;18086888;18667531;20056645;20360068;21139048;21550342;21890473;21906983;21963094;22751501;24250222;24258023;24816145 79677 C9JEF0;C9JMN1;H7C3J8;Q96SB8 ABBA01018508;AC097377;AJ310551;AK025769;AK092853;AK098325;AK124545;AK292421;AL136544;AL832979;AMYH02003341;AMYH02003342;AMYH02003343;BC011389;BC022998;BC032675;BC039828;CD369665;CH471053;DB451629;NM_001142286;NM_024624;XM_005262628;XM_006712103 AAH32675;AAH39828;AAX88851;BAB15236;BAF85110;CAB66479;CAC39248;CAH56327;CAL37412;EAX00866;EAX00867;EAX00868;NP_001135758;NP_078900;Q96SB8;XP_005262685;XP_006712166 Hs.526728 1683962;1709456;2127021;2142266;2148460 A004S33;RH67770;RH94239;SHGC-81773;WI-12545 FLJ22116;FLJ35534;SMC-6;SMC6L1;hSMC6 OTTHUMP00000115842;OTTHUMP00000115843;OTTHUMP00000200488;OTTHUMP00000200490;SMC protein 6;SMC6 structural maintenance of chromosomes 6-like 1;smc6 structural maintenance of chromosomes 6-like 1 (yeast);structural maintenance of chromosomes protein 6 protein-coding ENSG00000163029 HGNC:20466 10242 609387 VALIDATED 1606189 SMIM12 small integral membrane protein 12 FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; valproic acid 1 1 1 p34.3 33589547 33599002 - 35315963 35325417 - 34850362 34859816 - 6480464 12477932;15342556;16303743;19322201;21906983;24816145 113444 E5RH51;L0R6D7;Q96EX1 ABBA01023361;ABBA01023362;AI467795;AK074853;AL122010;AMYH02000749;AX119239;BC011880;BC034598;BC064320;BC073851;BC093838;BC107421;BC112231;BG702416;BP234122;BU601949;BX648912;CH471059;CQ782810;HF547981;NM_001164824;NM_001164825;NM_138428;XM_005270403 AAH11880;AAH34598;AAH73851;AAH93838;AAI07422;AAI12232;BAC11246;CAC38693;CAF86037;CCO13692;EAX07437;EAX07438;EAX07439;NP_001158296;NP_001158297;NP_612437;Q96EX1;XP_005270460 Hs.27160;Hs.661594 1654257;1660789;1674896;1722543;2166854;2178286;5014039;5015961;5016478;5022322;5022463;5037552;5093156;5493129 A009H36;D11S2560;D15S1477;D1S1806E;D1S2371;D22S1584;D3S1673;D8S2279;G32553;G60198;GDB:434012;SGC34142;SHGC-74586;UniSTS:484404 C1orf212;FLJ90372;MGC138436 OTTHUMP00000224962;OTTHUMP00000224964;OTTHUMP00000224965;OTTHUMP00000224966;UPF0767 protein C1orf212;alternative protein C1orf212;hypothetical protein LOC113444;uncharacterized protein C1orf212 APPROVED protein-coding HGNC:25154 14002 VALIDATED 1606130 SMIM14 small integral membrane protein 14 FOUND IN endoplasmic reticulum; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; 5-fluorouracil 4 4 4 p14 39990340 40078393 - 39548917 39640481 - 39550930 39638861 - 6480464 12477932;14702039;15231747;15489334;17207965;19322201;21890473;21906983;21963094;21987572;23000965;23759569;24250222;24499674;25015289 201895 D6R9U3;D6RDB1;D6RGZ0;Q96QK8 ABBA01004127;ABBA01004128;AC021148;AC105427;AC108471;AK023351;AK130274;AK307146;AMYH02009055;AMYH02009056;AMYH02009057;BC008502;CH471069;KF457757;NM_174921 AAH08502;ADQ32370;EAW92940;EAW92941;EAW92942;NP_777581;Q96QK8 Hs.205952;Hs.576320 1720811;2173878 G16694;G59381 C4orf34;FLJ13289 OTTHUMP00000158733;OTTHUMP00000218412;OTTHUMP00000218413;hypothetical protein LOC201895;uncharacterized protein C4orf34 APPROVED protein-coding HGNC:27321 14129 PROVISIONAL 7205118 SMIM17 small integral membrane protein 17 FOUND IN integral component of membrane (inferred) 19 19 19 q13.43 54197197 54211284 + 57154527 57168614 + 56643159 56657246 + 14702039;21145461 147670 M0R1N7;P0DL12 ABBA01020831;AC007228;AK095199;AMYH02036497;AMYH02036498;CH471135;NM_001193628;XM_006723022;XR_243898 EAW72469;NP_001180557;P0DL12;XP_006723085 Hs.336588 5015619;5037552 D11S3114;D8S2279 uncharacterized protein LOC147670 protein-coding HGNC:27114 VALIDATED 2293892 SMIM15 small integral membrane protein 15 FOUND IN integral component of membrane (inferred) 5 5 5 q12.1 57394547 57399320 - 60453536 60458302 - 61157709 61162475 - 12477932;16344560;24816145 643155 Q7Z3B0 ABBA01015813;AC008498;AK291180;AMYH02011377;BC014242;BC047489;BC066550;BC103711;BC146876;BC146881;BX538015;BX648459;CH471123;DA039277;NM_001048249 AAI46877;AAI46882;BAF83869;CAD97962;EAW55009;NP_001041714;Q7Z3B0 Hs.508479 1663389;2148050;2160518 RH15648;RH35739;SGC31768 C5orf43;DKFZp686E2158;DKFZp686O1385 OTTHUMP00000221665;OTTHUMP00000221666;UPF0542 protein C5orf43;hypothetical protein LOC643155 APPROVED protein-coding ENSG00000188725 HGNC:33861 VALIDATED 1345463 SMCR8 Smith-Magenis syndrome chromosome region, candidate 8 FOUND IN nucleus; INTERACTS WITH cadmium atom; cyclosporin A; ethyl methanesulfonate 17 17 17 p11.2 19159665 19172441 + 18218594 18231370 + 18315280 18328056 + 6480464 11997338;12477932;14702039;15342556;18029348;20562859;21139048;21906983;22678362;23248642 140775 Q8TEV9 ABBA01009733;AC127537;AF467440;AK092035;AK296847;AMYH02033114;BC001018;BC005067;BC014179;BC040699;BC101115;BC101116;BC101117;BC142680;BP280386;CH471196;CK724925;NM_144775 AAH01018;AAH14179;AAI01117;AAI01118;AAI42681;AAL78337;BAG59413;EAW55644;EAW55645;NP_658988;Q8TEV9 Hs.592944;Hs.707728 2107627;2109837;2166908;2169937 G33160;RH15951;SHMT1_8625;SMCR8__6860 FLJ34716;FLJ60657 OTTHUMP00000065699;Smith-Magenis syndrome chromosomal region candidate gene 8 protein protein-coding HGNC:17921 18075 VALIDATED 7204607 SMIM18 small integral membrane protein 18 FOUND IN integral component of membrane (inferred) 8 8 8 29454634 29461992 + 30496117 30503473 + 30638546 30645956 + 15885500;20125193;8889548 100507341 P0DKX4 ABBA01023662;AC102945;AC103959;AMYH02017716;AX970667;BM710955;CH471080;CS072394;DR033682;NM_001206847;XM_005273369;XM_006716265 CAF15775;CAI93532;EAW63450;NP_001193776;P0DKX4;XP_005273426;XP_006716328 Hs.659493 1659486;1700398 G36444;RH103819 uncharacterized protein LOC100507341 protein-coding ENSG00000253457 HGNC:42973 VALIDATED 7246688 SMIM2 small integral membrane protein 2 FOUND IN integral component of membrane (inferred) 13 13 q14.11 44717287 44735393 - 44143151 44161257 - 12477932 79024 Q9BVW6 ABBA01021235;AL589745;AMYH02027951;BC000868;CH471075;NM_024058 AAH00868;EAX08705;NP_076963;Q9BVW6 Hs.730073 1779522 SHGC-153492 C13orf44 protein-coding ENSG00000139656 HGNC:28776 VALIDATED 1602660 SMIM19 small integral membrane protein 19 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 8 8 8 p11.21 41343227 41355088 + 42396298 42408140 + 42541155 42552997 + 6480464 12477932;15489334;16344560;17207965;18029348 114926 E5RII4;E5RKA7;Q96E16 ABBA01021159;AC090739;AK311932;AMYH02017899;BC013035;BI335341;BI463786;BI549696;CH471080;DA702519;DB519016;NM_001135674;NM_001135675;NM_001135676;NM_138436;XM_005273398 AAH13035;ADQ33159;BAG34873;EAW63209;EAW63210;EAW63211;EAW63212;NP_001129146;NP_001129147;NP_001129148;NP_612445;Q96E16;XP_005273455 Hs.655320 1665846 A006X27 C8orf40 OTTHUMP00000211404;OTTHUMP00000211405;OTTHUMP00000211406;OTTHUMP00000211407;OTTHUMP00000226072;UPF0697 protein C8orf40;hypothetical protein LOC114926 APPROVED protein-coding ENSG00000176209 HGNC:25166 14005 VALIDATED 5488847 SMIM2-AS1 SMIM2 antisense RNA 1 13 13 q14.11 44684605 44813140 + 44110549 44154079 + 16344560;24204828 101929212 ABBA01021235;AL589745;AMYH02027951;BF510139;BF510376;BX100376;DB036693;HG505575;HG505576;LK938504;NR_104064;NR_104065 Hs.534877 1779522 SHGC-153492 C13orf44-AS1;C3orf81-AS1;RP11-478K15.2 APPROVED ncrna ENSG00000227258 HGNC:42674 VALIDATED 6480969 SMIM2-IT1 SMIM2 intronic transcript 1 (non-protein coding) 13 13 44720606 44732358 - 44146470 44158222 - 100874377 ABBA01021235;AI476676;AL589745;AMYH02027951;HG505577;NR_046843 Hs.652552 C13orf44-IT1;RP11-478K15.3 APPROVED ncrna HGNC:41492 PREDICTED 1604712 SMIM21 small integral membrane protein 21 FOUND IN integral component of membrane (inferred) 18 18 18 q23 69940532 69958268 - 73121827 73139589 - 75409872 75427634 - 12477932;14702039 284274 J3KSN8;J9JIF2;Q3B7S5 ABBA01015269;ABBA01015270;AC116003;AK093452;AMYH02035001;BC037871;BC105945;BC107486;CH471117;NM_001037331 AAI07487;EAW66572;NP_001032408;Q3B7S5 Hs.666744 C18orf62;MGC126049 putative uncharacterized protein C18orf62 APPROVED protein-coding HGNC:27598 18769 PROVISIONAL 2298816 SMIM23 small integral membrane protein 23 FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH paracetamol; cadmium dichloride (ortholog) 5 5 5 q35.1 167162218 167266076 + 171212819 171218129 + 171785815 171791125 + 6480464 15372022;19197348;20379614;20881960;23028347;23509962 644994 A6NLE4;H0YC34 ABBA01044070;AC011410;AC022440;AMYH02012735;EG327678;NM_001289970;XM_003403786;XM_003960360;XM_928062 A6NLE4;NP_001276899;XP_003403834;XP_003960409;XP_933155 Hs.591740 1338328;1687405;1709288;1723581;1752075;2111478;2123053;2140233;7185386 D5S2366;D5S462;G16950;RH123244;RH45655;RH92339;SHGC-106017;SHGC-85842 C5orf50 chromosome 5 open reading frame 50;hypothetical protein LOC644994;uncharacterized protein C5orf50 APPROVED protein-coding HGNC:34440 VALIDATED 1605605 SMIM3 small integral membrane protein 3 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 5 5 5 q33.1 146238857 146257646 + 150157508 150176298 + 150777946 150796736 + 6480464 11288140;12477932;15489334;16189514 85027 Q7Z4C3;Q9BZL3 ABBA01026271;AC010441;AF313413;AK027847;AK125286;AMYH02012463;AMYH02012464;BC009719;BC101838;BC101840;BC106040;BG911744;CH471062;NM_032947 AAG53959;AAH09719;AAI01839;AAI01841;AAI06041;BAC86114;EAW61705;NP_116565;Q9BZL3 Hs.29444 1780826;2116586 1728;bac52321T C5orf62;MGC117221;MGC126887;MGC126889;MST150;NID67 NGF-induced differentiation clone 67 protein;OTTHUMP00000224492;putative small membrane protein NID67;small membrane protein NID67 APPROVED protein-coding ENSG00000256235 HGNC:30248 12212 608324 VALIDATED 3418804 SMIM20 small integral membrane protein 20 FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; quercetin; dibutyl phthalate (ortholog) 4 4 4 p15.2 26363965 26380057 + 25915528 25931501 + 25913906 25929879 + 6480464 12477932;16344560;22939629 389203 E5RH91;Q8N5G0 ABBA01032709;AC133961;AMYH02008917;AMYH02008918;AMYH02008919;BC006003;BC014348;BC032431;BC040154;BC046171;BC062747;BC086307;C75542;CH471069;DA733575;NM_001145432;XM_005248162 AAH06003;AAH32431;EAW92845;NP_001138904;Q8N5G0;XP_005248219 Hs.479386 C4orf52 OTTHUMP00000225143;hypothetical protein LOC389203;uncharacterized protein C4orf52 APPROVED protein-coding ENSG00000250317 HGNC:37260 VALIDATED 1603140 SMIM4 small integral membrane protein 4 FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH paracetamol; valproic acid; phenobarbital (ortholog) 3 3 3 p21.1 52550126 52554091 + 52570002 52574586 + 52534856 52540570 + 6480464 12477932;14702039;24250222;8889548 440957 C9JAX8;F8W7Q2;Q8WVI0 ABBA01024505;AC112215;AK095910;AMYH02006805;BC017996;BG031013;BM674004;CH471055;NM_001124767;XM_006713165 AAH17996;EAW65238;NP_001118239;Q8WVI0;XP_006713228 Hs.660577 1681642 RH93758 C3orf78 OTTHUMP00000213339;OTTHUMP00000213340;UPF0640 protein C3orf78;hypothetical protein LOC440957;small nucleolar rna host gene (non-protein coding) 8 APPROVED protein-coding HGNC:37257 VALIDATED 7247217 SMIM22 small integral membrane protein 22 FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; cadmium dichloride (ortholog); diuron (ortholog) 16 16 16 p13.3 5047168 5055052 + 4838398 4846492 + 4788397 4796491 + 6480464 12477932 440335 K7EJ46 AA507469;ABBA01026786;ABBA01026787;AC020663;AMYH02031328;BC022385;BC035868;BC048326;BC148245;BI767985;CK903133;NM_001253790;NM_001253791;NM_001253793;NM_001253794;XM_005255330 K7EJ46;NP_001240719;NP_001240720;NP_001240722;NP_001240723;XP_005255387 Hs.390599 uncharacterized protein LOC440335 protein-coding ENSG00000267795 HGNC:48329 VALIDATED 1601966 SMIM7 small integral membrane protein 7 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH disodium selenite; formaldehyde; hydrogen peroxide 19 19 19 p13.11 16658798 16672807 - 16741562 16770968 - 16630751 16660157 - 6480464;8554872 12477932;19322201;21139048;24250222 79086 B7WNH4;E9PLH2;E9PNA8;E9PP42;M0R0R3;Q9BQ49 ABBA01051153;AC024075;AK025602;AL702263;AMYH02035686;BC000817;BC001680;BC001948;BC069279;BX648276;CH471106;DB047166;NM_001300925;NM_024104;XM_005260074;XR_244083;XR_244084;XR_244085;XR_244086 EAW84555;EAW84556;EAW84557;EAW84558;NP_001287854;NP_077009;Q9BQ49;XP_005260131 Hs.356467 1662361;1664736;1675660;1686867;2159384;2174168;5015619;5015861;5015961;5016851;5017170;7185938 D10S16;D11S3114;D15S1477;G30986;L29953;RH80031;RH80737;RH98555;SHGC-57818;STS-H96900;STS-T91964 C19orf42;MGC2747 OTTHUMP00000195061;OTTHUMP00000195062;OTTHUMP00000233381;OTTHUMP00000233382;OTTHUMP00000233383;UPF0608 protein C19orf42;hypothetical protein LOC79086 APPROVED protein-coding ENSG00000214046 HGNC:28419 14525 VALIDATED 1606789 SMG9 SMG9 nonsense mediated mRNA decay factor ENCODES a protein that exhibits identical protein binding; INVOLVED IN nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; FOUND IN intracellular; INTERACTS WITH arsenite(3-); methyl methanesulfonate; quercetin 19 19 19 q13.31 41038878 41062719 - 44232851 44259142 - 43728699 43754990 - 6480464 11230166;11256614;12477932;14702039;16344560;19417104;20371770;21640080;21963094;23000965;24250222;24816145;8889548 56006 M0QX70;M0QYR7;M0QZC7;M0QZH1;M0R0U0;M0R2N0;Q9H0W8 ABBA01040868;AC004780;AK022948;AK309830;AL136606;AMYH02036173;BC008869;BM981890;CH471126;DA356912;NM_019108;XM_005259057 AAC17932;AAH08869;BAB14323;CAB66541;EAW57223;EAW57224;EAW57225;EAW57226;EAW57227;EAW57228;NP_061981;Q9H0W8;XP_005259114 Hs.466875 1649912;1668758;2137145 RH46988;STS-F09576;STS-R15751 C19orf61;DKFZp564H1322;F17127_1;FLJ12886 OTTHUMP00000197093;protein smg-9 homolog;smg-9 homolog, nonsense mediated mRNA decay factor APPROVED protein-coding HGNC:25763 07800 613176 VALIDATED 1313022 SMIM8 small integral membrane protein 8 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; benzo[a]pyrene 6 6 6 q15 88450980 88470715 + 88032306 88052043 + 87322588 87342328 + 6480464 12477932;14574404;15489334;16344560;17207965;24324551 57150 Q96KF7;V9GYF9 ABBA01040492;AF311339;AI239454;AI681117;AJ420558;AK311963;AL050201;AL096817;AMYH02014053;BC070260;BF212252;BG534658;CH471051;DA293899;NM_001042493;NM_001287445;NM_020425 AAH70260;AAK38513;ADQ32012;BAG34903;EAW48601;EAW48602;EAW48603;NP_001035958;NP_001274374;NP_065158;Q96KF7 Hs.70769 1698094;2147791;2150425 RH102579;RH47881;STS-N24194 C6orf162;DKFZp586E1923;dJ102H19.2 OTTHUMP00000016828;UPF0708 protein C6orf162;hypothetical protein LOC57150 APPROVED protein-coding ENSG00000111850 HGNC:21401 12862 VALIDATED 7204969 SMKR1 small lysine-rich protein 1 INTERACTS WITH all-trans-retinoic acid; valproic acid 7 7 q32.1 129142320 129152773 + 129502479 129512932 + 6480464 100287482 H3BMG3;H3BQK7 ABBA01057635;AC009244;AF086124;AMYH02016733;BC035417;BC050400;CH236950;NM_001195243 H3BMG3;NP_001182172 Hs.178144 1690520 RH94383 protein-coding ENSG00000240204 HGNC:43561 PROVISIONAL 7205347 SMLR1 small leucine-rich protein 1 FOUND IN integral component of membrane (inferred) 6 6 6 q23.1 131894658 131904609 + 131148545 131158275 + 130827405 130837135 + 12477932;14702039;8889549 100507203 H3BR10 ABBA01025899;AI247685;AK091900;AL109938;AL355360;AMYH02014486;BC101422;BC101423;BC101424;BC101425;BC113026;BC113027;BX095531;NM_001195597;T54915 H3BR10;NP_001182526 Hs.388715 1644207;1674869;1674871;1689875;1854236;2148896;2185203;5092696 A005Q25;D6S1156E;D6S1877;D6S2129;G32271;RH64862;STS-H49563;WI-18727 uncharacterized protein LOC100507203 protein-coding ENSG00000256162 HGNC:44670 VALIDATED 3380006 SMIM24 small integral membrane protein 24 FOUND IN extracellular vesicular exosome; INTERACTS WITH cyclosporin A; quercetin 19 19 19 p13.3 3411216 3417351 - 3474405 3480540 - 3474407 3480542 - 6480464 12477932;16341674;24816145;8889548 284422 K7EKM7;O75264 ABBA01002825;AC005551;AF161441;AMYH02035256;AX970540;BC146979;BC146984;BM769757;BU733823;CB178479;NM_001136503 AAF29001;AAI46980;AAI46985;CAF15648;NP_001129975;O75264 Hs.130714 1697344 RH102169 C19orf77;HSPC323 transmembrane protein C19orf77;transmembrane protein HSPC323 APPROVED protein-coding HGNC:37244 VALIDATED 736439 SMN1 survival of motor neuron 1, telomeric This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014] 5 5 5 q13.2 66468090 66482264 - 70220768 70248839 + 70924941 70953012 + 1358253;1358254;6480464;7240710;8554872;8699517 10942426;11303798 10205267;10339583;10369862;10601333;10725331;10732802;10732817;10734235;10767334;10851237;11092763;11135666;11149922;11283611;11313744;11438536;11448987;11509230;11522829;11551898;11574476;11641277;11704667;11713266;11714716;11720283;11748230;11773003;11791208;11792806;11835381;11875052;11907229;11914277;11935338;11992267;11996521;12021369;12065586;12067652;12095920;12192051;12221125;12361597;12374765;12459587;12477932;12657835;12663808;12668731;12679382;12878704;12975319;14520560;14697339;14715275;14742439;14749338;14972554;15119481;15222879;15249625;15304326;15337310;15345747;15372022;15459957;15489334;15494309;15526170;15580564;15608400;15726222;15832310;16087681;16093455;16118268;16169070;16189514;16331551;16439605;16449646;16481599;16565220;16617248;16651888;16786553;16845275;16931506;16936383;17023415;17049859;17068332;17081983;17218272;17250497;17250498;17392705;17415510;17475491;17585203;17592254;17625510;17635841;17682539;17850955;17916631;18071605;18093976;18172693;18269687;18332255;18337729;18533950;18546169;18624398;18633133;18651653;18703124;18752447;18974562;18984161;19050931;19103745;19134255;19154529;19179398;19198020;19215052;19244360;19271042;19351384;19447967;19480685;19538222;19596235;19625283;19628962;19648294;19735367;19922137;19928837;19997741;20090376;20188701;20197730;20301526;20373854;20442745;20515750;20563565;20620147;20637152;20659551;20696395;20713032;20947812;21055263;21082361;21145461;21172665;21209906;21233719;21300694;21333717;21335981;21338334;21364876;21462119;21482919;21496457;21565611;21610747;21631299;21672919;21693563;21705024;21732698;21785216;21826391;21890473;21900206;21906983;21920940;21924051;21956898;21963094;22085534;22101937;22118674;22124016;22161088;22190034;22197680;22323753;22324632;22363433;22365833;22454514;22607171;22669976;22824686;22884440;22939629;22990118;22994313;23000965;23112048;23136128;23185376;23221635;23246001;23301033;23315303;23398456;23438482;23455924;23477310;23496866;23615451;23727837;23752268;24085424;24237934;24357717;24362020;24457600;24515897;24711022;24736615;24777337;7552146;7581461;7639755;7813012;8670859;8808598;8838816;8922999;9147655;9158159;9259265;9302277;9323129;9389483;9503025;9600994;9818944;9837824;9845364 6606 B4DP61;E7EQZ4;H0YBZ9;Q16637 ABBA01150078;AC005031;AC044797;AC139494;AC139834;AC244260;AF092925;AK298203;BC062723;JQ657798;JQ657799;JQ657800;JQ657801;JQ657802;JQ657803;JQ732166;JQ745297;NG_008691;NM_000344;NM_001297715;NM_022874;U18423;U43883;U80017;XM_005248575;XM_005276775;XM_006714677 AAA66242;AAC50473;AAC52048;AAC62262;AAD37484;AAH62723;ABM85021;ABW03675;AFK09761;AFK09762;AFK09763;AFK09764;AFK09765;AFK09766;AFM22704;AFM68922;BAG60473;NP_000335;NP_001284644;NP_075012;Q16637;XP_005248632;XP_005276832;XP_006714740 Hs.535788 1643786;1734312;1743523;1743525;1768776;1768778;1790299;2112540;2112542;2172047;2172049 A006I11;D5F150S1;D5F151S1;D5S1556;D5S1946;D5S2463;D5S2797;D5S2798;G20836;SMN1;STS-U18423 BCD541;GEMIN1;SMA;SMA1;SMA2;SMA3;SMA4;SMA@;SMN;SMN2;SMNT;T-BCD541;TDRD16A OTTHUMP00000125198;OTTHUMP00000223567;OTTHUMP00000223568;OTTHUMP00000224066;OTTHUMP00000226924;component of gems 1;gemin 1;gemin-1;survival motor neuron 1 protein;survival motor neuron protein;tudor domain containing 16A APPROVED protein-coding ENSG00000172062 HGNC:11117 02646 253300;253400;253550;271150;600354 REVIEWED 1319332 SMNDC1 survival motor neuron domain containing 1 This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008] 10 10 10 q23 105784468 105796377 - 112052798 112064707 - 110293040 110304949 - 1580863;6480464;6907045;8554872 11331295;11331595;12234937;12477932;15489334;15494309;15635413;16385451;16964243;17332742;17353931;18211889;19322201;20028739;20301526;21139048;21145461;21172665;22101937;22363433;22365833;22939629;23850713;24816145;9731529;9817934 10285 O75940 ABBA01063032;AF083385;AF107463;AK314013;AL360182;AMYH02023796;BC011234;BC039110;BQ694303;CH471066;NG_008284;NM_005871;XM_005269382 AAC64086;AAC84148;AAH11234;BAG36724;EAW49561;EAW49562;EAW49563;EAW49564;NP_005862;O75940;XP_005269439 Hs.632093 2108937 SMNDC1_9083 SMNR;SPF30;TDRD16C 30 kDa splicing factor SMNrp;OTTHUMP00000020474;OTTHUMP00000020475;SMN-related protein;splicing factor 30, survival of motor neuron-related;survival motor neuron domain-containing protein 1;survival of motor neuron-related-splicing factor 30;tudor domain containing 16C APPROVED protein-coding HGNC:16900 04627 603519 REVIEWED 5132337 SMIM5 small integral membrane protein 5 FOUND IN integral component of membrane (inferred); INTERACTS WITH titanium dioxide (ortholog) 17 17 17 q25.1 70219600 70227572 + 73629514 73637486 + 75633434 75641406 + 6480464 12107410;12477932;14702039;24318988 643008 Q71RC9 ABBA01028776;AC087749;AF370408;AK055768;AL832643;AMYH02034000;AX588170;BC027861;BC146918;BC146923;BI712658;CA388654;CA413024;CH471099;NG_029617;NM_001162995;NR_028439;XM_006722013 AAQ15244;CAD61395;EAW89296;NP_001156467;Q71RC9;XP_006722076 Hs.528605 C17orf109;DKFZp451K2118;FLJ31206;PP12104 OTTHUMP00000237168;hypothetical protein LOC643008;uncharacterized protein C17orf109 APPROVED protein-coding ENSG00000204323 HGNC:40030 VALIDATED 5134215 SMIM6 small integral membrane protein 6 FOUND IN integral component of membrane (inferred) 17 17 17 70232732 70234143 + 73642274 73644057 + 75646195 75647977 + 11181995;12477932 100130933 P0DI80 ABBA01028776;AC087749;AI167865;AK131023;AL041162;AMYH02034000;AX588141;AX588142;AX588478;AX970603;BC062771;CH471099;CS072343;NG_029617;NM_001162997;XM_005256903 CAD61366;CAD61367;CAD61534;CAF15711;CAI93481;EAW89297;NP_001156469;P0DI80;XP_005256960 Hs.662541 1697944 RH102501 C17orf110;FLJ27513 hypothetical protein LOC100130933;putative uncharacterized protein C17orf110 APPROVED protein-coding ENSG00000259120 HGNC:40032 VALIDATED 1606833 SMN2 survival of motor neuron 2, centromeric This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] 5 5 5 q13.2 66468087 66482264 - 69345350 69373422 + 70049523 70077595 + 6480464;7240710 10205267;10369862;10531003;10556282;10601333;10732802;10732817;10734235;10851237;10942426;11092763;11135666;11149922;11283611;11438536;11448987;11509230;11551898;11574476;11641277;11704667;11714716;11720283;11748230;11773003;11791208;11835381;11839954;11875052;11925564;11993528;12065586;12067652;12095920;12361597;12370479;12477932;12642665;12833158;12915451;12975319;14715275;14766219;15130578;15146197;15162126;15304326;15305106;15372022;15489334;15494309;15580564;15772088;15790598;15832310;15848170;15852397;15944201;16087681;16093455;16169070;16189514;16439605;16449646;16481599;16565220;16845275;16931506;17023415;17049859;17068332;17081983;17250497;17307868;17353931;17407069;17475491;17505471;17585203;17592254;17719568;17761657;17850955;17884807;17924536;18492800;18546169;18662980;18703124;18703504;18794368;18842367;18941511;18971205;18984161;19134255;19154529;19244360;19271042;19287802;19329542;19397406;19447967;19603064;19628962;19648294;19716110;19760790;19922137;19953646;20186123;20197730;20301526;20442745;20515750;20563565;20577007;20659551;20739549;20826664;20884664;20947812;21120954;21145461;21189287;21548796;21705024;21762474;21821450;21890473;21906983;21925145;21963094;21979052;22082206;22085534;22118674;22187232;22190034;22274580;22558076;22607171;22750651;22763238;22884440;22939629;23000965;23185376;23315303;23477310;24014320;24533984;24550385;24806302;7552146;7639755;7813012;8670859;8808598;8838816;8889549;9147655;9158159;9259265;9323129;9389483;9503025;9837824;9845364 6607 B4DP61;E7EQZ4;H0YBZ9;Q16637;U3KPX7 AA029652;ABBA01112812;AC004999;AC140134;AC244635;AF187725;AI312583;AK289669;BC000908;BC015308;BC070242;CN272420;DQ185039;JQ690861;JQ690862;JQ690863;JQ690864;JQ690865;JQ690866;JQ732167;NG_008728;NM_017411;NM_022875;NM_022876;NM_022877;U21914 AAA64505;AAC83178;AAH00908;AAH15308;AAH70242;ABM82472;ABM85660;ABW03676;AFJ92627;AFJ92628;AFJ92629;AFJ92630;AFJ92631;AFJ92632;AFM68923;BAF82358;NP_059107;NP_075013;NP_075014;NP_075015;Q16637 Hs.202179;Hs.535788 1643786;1734312;1743523;1743525;1768776;1768778;1790299;2112540;2112542;2172047;2172049 A006I11;D5F150S1;D5F151S1;D5S1556;D5S1946;D5S2463;D5S2797;D5S2798;G20836;SMN1;STS-U18423 BCD541;C-BCD541;FLJ76644;GEMIN1;MGC20996;MGC5208;SMN1;SMNC;TDRD16B OTTHUMP00000125236;OTTHUMP00000125237;OTTHUMP00000221943;OTTHUMP00000221944;component of gems 1;gemin 1;gemin-1;survival motor neuron protein;tudor domain containing 16B APPROVED protein-coding ENSG00000205571 HGNC:11118 09036 253400;601627 REVIEWED 1348217 SMOC1 SPARC related modular calcium binding 1 This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 14 14 14 q24.2 50410240 50563191 + 70346105 70499083 + 69879388 70032366 + 1331355;6480464;8699517;7240710;8554872 12130637 12477932;12508121;15489334;16344560;17386346;20359165;21194678;21194680;21349332;21750680;22863883;23088713;23222517;23263445;23274784;23333304;24057671;24249740 64093 Q9H4F8 ABBA01030824;ABBA01030825;AJ249900;AK098441;AK289988;AK313063;AL135747;AL157789;AMYH02029440;AMYH02029441;BC008608;BC011548;BQ183777;BX110623;CH471061;DA805236;NG_028217;NM_001034852;NM_022137;XM_005267995;XM_005267996 AAH08608;AAH11548;ABM82709;ABM85893;BAF82677;BAG35892;CAC10352;EAW81013;EAW81014;EAW81015;EAW81016;NP_001030024;NP_071420;Q9H4F8;XP_005268052;XP_005268053 Hs.497349 1340652;1341015;1677268;1700232;1705594;1707058;1708964;1713653;1722717;2181498 D14S1029;D14S580;G60444;RH103733;RH120708;RH70356;RH99058;SHGC-79541;SHGC-81284;SHGC-83905 OAS;SMOC-1 OTTHUMP00000245522;OTTHUMP00000245523;SPARC-related modular calcium-binding protein 1;secreted modular calcium-binding protein 1 APPROVED protein-coding ENSG00000198732 HGNC:20318 12244 206920;608488 REVIEWED 733306 SMO smoothened, frizzled class receptor The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010] 7 7 7 q32.3 123625432 123650109 + 128828713 128853386 + 129188872 129213545 + 704355;1580863;2324978;2324982;2324983;2324981;2324910;2324992;5510013;5510026;6480464;6484113;6907045;8554872 16197497;16826192;19396459;19460966;20062892;20071678;20635334;20716670;9422511 11042037;11278759;11748145;12123571;12165511;12192414;12241103;12477932;12499255;12690205;12773389;15489334;15618519;16147992;16339184;16344560;16804411;16867986;16945339;17850284;17884791;18359851;18502968;18543049;19056867;19237606;19304771;19351817;19401682;19432668;19453261;19473442;19564910;19592253;19726788;19730683;20050020;20067614;20215540;20561215;20603613;20819778;20937227;21210262;21338440;21757753;22114142;22231273;22253573;22486854;22535603;22864913;22901214;23063129;23098507;23106887;23334667;23341351;23348505;23349881;23379358;23448715;23508962;23599646;23636324;23915072;24148123;24277750;24393163;24469022;24859340;8898207;8906787;9581815;9628830;9764827;9799615;9811851 6608 H7C509;H7C5S9;Q99835 AB065574;ABBA01057642;AC011005;AF071494;AF089720;AF114821;AF120103;AF130867;AMYH02016729;AMYH02016730;AU132302;BC004332;BC009989;CH236950;CH471070;NG_023340;NM_005631;U84401 AAB41788;AAC24863;AAD17202;AAD28625;AAF31757;AAH09989;ABM87646;BAC05807;EAL24102;EAW83715;NP_005622;Q99835 Hs.437846 1694840;1796850;2126653;2134992;2191257 MARC_16819-16820:1021560442:1;RH121944;RH12557;RH16231;SMO_853 FZD11;Gx;SMOH OTTHUMP00000212929;frizzled family member 11;seven transmembrane helix receptor;smoothened homolog;smoothened, frizzled family receptor;smoothened, seven transmembrane spanning receptor APPROVED protein-coding ENSG00000128602 HGNC:11119 03294 601500 REVIEWED 5481439 SMIM9 small integral membrane protein 9 FOUND IN integral component of membrane (inferred); plasma membrane (inferred) X X X q28 154210168 154221482 - 154051623 154062937 - 154823348 154834662 - 11181995;11329013;15772651;16344560 100132963 A6NGZ8 ABBA01029088;ABBA01029089;AC109993;AMYH02040860;AMYH02040861;AW072401;BG196890;BX092805;CH471172;DA855214;NG_033065;NM_001162936 A6NGZ8;EAW72650;EAW72651;EAW72652;NP_001156408 Hs.220762 1741047;1798906;1800610;1813968;1816036;1816826;1817600;1823654;1829372;1830126;1834616;1840444;1844860;1845380;1846356;2039638;2039640;2039642;2039644;2039646;2039648;2039650;2039652;2039654;2039656;2039658;2039660;2039662;2039664;2039666;2039668;2039670;2039672;2039674;2039676;2039678;2039680;2039682;2039684;2039686;2039688;2039690;2039692;2039694;2039696;2039698;2039700;2039702;2039704;2039706;2039708;2039710;2039712;2039714;2039716;2039718;2039720;2039722;2039724;2039726;2039728;2039730;2039732;2039734;2039736;2039738;2039740;2039742;2039744;2039746;2039748;2039750;2039752;2039754;2039756;2039758;2039760;2039762;2039764;2039766;2102958;2102960;2102962;2102964;2102966;2102968;2102970;2102972;2102974;2102976;2102978;2155456 ECD00294;ECD01166;ECD08011;ECD09058;ECD09459;ECD09850;ECD12919;ECD15817;ECD16196;ECD18456;ECD21408;ECD23646;ECD23907;ECD24398;GDB:177519;REN90844;REN90845;REN90846;REN90847;REN90848;REN90849;REN90850;REN90851;REN90852;REN90853;REN90854;REN90855;REN90856;REN90857;REN90858;REN90859;REN90860;REN90861;REN90862;REN90863;REN90864;REN90865;REN90866;REN90867;REN90868;REN90869;REN90870;REN90871;REN90872;REN90873;REN90874;REN90875;REN90876;REN90877;REN90878;REN90879;REN90880;REN90881;REN90882;REN90883;REN90884;REN90885;REN90886;REN90887;REN90888;REN90889;REN90890;REN90891;REN90892;REN90893;REN90894;REN90895;REN90896;REN90897;REN90898;REN90899;REN90900;REN90901;REN90902;REN90903;REN90904;REN90905;REN90906;REN90907;REN90908;STS-M14113;stSG604316;stSG604317;stSG604318;stSG604319;stSG604320;stSG604323;stSG604324;stSG604325;stSG604326;stSG604327;stSG604328 CXorf68 OTTHUMP00000026048;hypothetical protein LOC100132963;uncharacterized protein CXorf68 APPROVED protein-coding ENSG00000203870 HGNC:41915 VALIDATED 1314443 SMOX spermine oxidase Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012] 20 20 20 p13 4194572 4233196 + 4129426 4168394 + 4148779 4187747 + 6480464;7244190;7244193 13678416;15541750 11454677;11780052;12141946;12398765;12458219;12477380;12477932;12727196;12798;12975309;14702039;14764092;15221502;15489334;16207710;18029348;18302221;18422650;19165232;19727732;20000632;20059804;20127992;20379614;20881960;20946629;21152090;21839041;21906983;23665428;3181599 54498 B4DE63;Q5TE25;Q9NWM0 ABBA01053848;ABBA01053849;AF519179;AK000753;AK025938;AK127286;AK293485;AL121675;AL162058;AMYH02036618;AMYH02036619;AW136764;AY033889;AY033890;AY033891;AY358104;BC000669;BG480614;BG679874;CH471133;EF032141;NM_001270691;NM_175839;NM_175840;NM_175841;NM_175842;U61836;XM_006723578 AAH00669;AAK55763;AAK55764;AAK55765;AAN77119;AAQ88471;ABM01872;BAA91360;BAB15288;BAG56974;CAB82396;EAX10457;EAX10458;EAX10459;EAX10460;EAX10461;EAX10462;EAX10463;NP_001257620;NP_787033;NP_787034;NP_787035;NP_787036;Q9NWM0;XP_006723641 Hs.433337 2109863;2175804;5093410 A009O14;G32702;SMOX_9791 C20orf16;FLJ20746;MGC1010;PAO;PAO-1;PAO1;PAOH;PAOH1;SMO OTTHUMP00000030155;OTTHUMP00000030156;OTTHUMP00000030157;OTTHUMP00000030158;OTTHUMP00000161031;OTTHUMP00000161032;flavin containing amine oxidase;flavin-containing spermine oxidase;polyamine oxidase 1;putative cyclin G1 interacting protein APPROVED protein-coding ENSG00000088826 HGNC:15862 11587 615854 REVIEWED 732430 SMPD2 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009] 6 6 6 q21 110508515 110511706 + 109761849 109765125 + 109440728 109443922 + 1580863;6480464;6484113;6907045 10608884;11238738;11997500;12477932;12566438;12676795;14689449;15013522;15051724;15175033;15489334;15509740;16344560;17207965;17212982;17272284;17344303;17449104;18040843;18391951;19698806;19817993;19834535;19913121;20378749;20448054;20628086;20836852;21335555;21906983;22721673;22899568;24358176;8889548;9520418 6610 H0Y5N2;O60906 ABBA01026126;AJ222801;AK310148;AK313515;AL109947;AMYH02014279;BC000038;CA314251;CH471051;DA672570;NM_003080;XM_005267109 AAH00038;ABM82805;ADQ32367;BAG36295;CAA10995;EAW48346;NP_003071;O60906;XP_005267166 Hs.55235 2218038 SMPD2_2808 ISC1;NSMASE1;lyso-PAF-PLC N-SMase;NSMASE;OTTHUMP00000016965;lyso-platelet-activating factor-phospholipase C;neutral sphingomyelinase;sphingomyelin phosphodiesterase 2 APPROVED protein-coding ENSG00000135587 HGNC:11121 04608 603498 VALIDATED 1349414 SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010] 11 11 11 p15.4-p15.1 6530711 6535296 + 6411644 6416228 + 6390331 6394998 + 1601336;1601345;1601347;1580863;6480464;6484113;6907045;7240710;8554872;8699517 12556236;14983401;17259995 11001565;11238738;11788605;12208520;12369017;12477932;12631268;12801930;12815059;1292508;12953170;1301192;1391960;15175033;15221801;15241805;15383576;15509740;15743760;15769735;15849201;15877209;15888438;15997205;16010684;16051685;1618760;16245071;16472269;16642440;16787399;1711683;1718266;17344303;17381401;1740330;17698617;18052040;18088425;18264947;1840600;18426979;18628757;18815062;1885770;19050888;19054571;19059331;19279008;19279011;19300439;19322201;19405096;19817993;19860808;19878569;19913121;2004772;20137294;2023926;20301544;20386867;20628086;20807762;20956541;21098024;21153367;21294641;21335555;21900206;22367733;22558155;22573858;22613662;22721673;22771321;22824271;22879933;22890197;22906436;23025307;23252888;23356216;23535491;23618813;23707365;23770692;23871123;24262184;24769340;25049335;2555181;7670466;8051942;8407868;8664904;8680412;8693491;8889548;9030779;9110068 6609 E9PL59;E9PPK6;E9PQT3;G3V1E1;H0YEP5;P17405;Q59EN6 AA746054;AB209775;ABBA01028667;AC068733;AK292388;AMYH02024269;AY649987;BC041164;BI599208;BM686561;BU845962;CH471064;HQ132745;HQ132746;HQ132747;HQ132748;JC334071;M59916;M59917;M81780;NG_011780;NM_000543;NM_001007593;X52678;X52679;X59960;X63600;XM_005253075 AAA58377;AAA58378;AAA75008;AAA75009;AAH41164;AAV68198;ADW08999;ADW09000;ADW09001;ADW09002;BAD93012;BAF85077;CAA36901;CAA36902;CAA42584;CAA45145;CDM61370;EAW68726;EAW68727;EAW68728;EAW68729;NP_000534;NP_001007594;P17405;XP_005253132 Hs.498173 1742579;1774032;1796852;1850059;1855929;2152808;2180012 A002D29;D11S4426;GDB:197904;RH69187;SMPD1;SMPD1_855;STS-M81780 ASM;NPD OTTHUMP00000229836;OTTHUMP00000232789;aSMase;acid sphingomyelinase;sphingomyelin phosphodiesterase APPROVED protein-coding ENSG00000166311 HGNC:11120 06353 257200;607608;607616 REVIEWED 1347416 SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) ENCODES a protein that exhibits metal ion binding (inferred); sphingomyelin phosphodiesterase activity (inferred); INVOLVED IN glycosphingolipid metabolic process (inferred); hematopoietic progenitor cell differentiation (inferred); peptide hormone secretion (inferred); PARTICIPATES IN ceramide signaling pathway; sphingolipid metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi cis cisterna (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; arsenous acid 16 16 16 q22.1 52900779 52990952 - 68392230 68482409 - 68358327 68448506 - 1580863;6480464;6484113;6907045;8554872 10823942;12417987;12477932;12566438;14741383;15051724;15489334;15509740;16517606;16631623;17085432;17349629;18299447;19698806;19735728;19913121;20106976;20628086;21303347;21536668;21708940;22082680;22114277;22721673;23439645;23651497 55512 A8K0T6;H3BS51;H3BTM0;I3L228;Q9NY59 AA461272;ABBA01025484;ABBA01025485;ABBA01025486;AC099521;AJ250460;AK026246;AK289651;AL157660;AMYH02032249;AW163364;AX405969;BC012727;BC041828;BC112238;BC143631;BC143634;BI196095;CA424980;CB268111;CH471092;DQ424899;JA738549;NM_018667;XM_005256031;XM_005256032;XM_006721230;XM_006721231;XM_006721232 AAI12239;AAI43632;AAI43635;ABD83664;ADR83107;BAB15409;BAF82340;CAB92964;CAD35076;CCF76927;EAW83233;NP_061137;Q9NY59;XP_005256088;XP_005256089;XP_006721293;XP_006721294;XP_006721295 Hs.368421 1691268;1719255;1722007;2135200;2173854;5024914 G59890;RH123348;RH48608;RH92696;SHGC-61160;Smpd3 FLJ22593;MGC138443;NSMASE2 OTTHUMP00000174866;nSMase-2;neutral sphingomyelinase 2;neutral sphingomyelinase II;sphingomyelin phosphodiesterase 3 protein-coding ENSG00000103056 HGNC:14240 16154 605777 VALIDATED 5129246 SMPD4P2 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 2 13 13 13 q12.11 787543 807477 - 19725607 19745541 - 19151467 19171401 - 441654 ABBA01068549;ABBA01068550;AL139327;AMYH02027608;NG_011395 pseudo HGNC:39674 INFERRED 1604348 SMPD4 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) Sphingomyelinases (EC 3.1.4.12), such as SMPD4, catalyze the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (Krut et al., 2006 [PubMed 16517606]).[supplied by OMIM, Mar 2008] 2 2 2 q21.1 124183727 124215108 - 130908965 130940323 - 130151392 130182750 - 6480464;6907045 10718198;11230166;12477932;14702039;15231747;15489334;15509740;15815621;16344560;16517606;17353931;18505924;19698806;19913121;20628086;21139048;21145461;21890473;21906983;21963094;21987572;23000965;24250222;24457600;24654937;8619474;8889549;9110174 55627 B1PBA3;C9J647;F2Z2I0;F2Z2W5;F8WEQ5;F8WF03;H7BXF4;H7C0W5;H7C1Q6;H7C235;H7C2E2;H7C2J2;Q9NXE4 AA232420;AB037839;ABBA01017941;ABBA01017942;ABBA01017943;ABBA01017944;AC018804;AF052134;AI393912;AK000304;AK000763;AK001227;AK056501;AK126920;AK297257;AK298609;AK299185;AK301576;AK303427;AK303519;AL136737;AMYH02004774;BC040941;BC064947;CH471263;CR533550;DA797873;DB137488;EU367941;NM_001171083;NM_017751;NM_017951;NR_033230;NR_033231;NR_033232;XM_005263704;XM_006712625 AAH64947;AAY14883;ACA48221;BAA91070;BAA91368;BAA91567;BAA92656;BAC86751;BAG59735;BAG60793;BAG61230;BAG63069;BAG64478;BAG64547;CAB66671;CAG38581;EAW55597;EAW55598;EAW55599;EAW55600;EAW55601;NP_001164554;NP_060221;NP_060421;Q9NXE4;XP_005263761;XP_006712688 Hs.516450 1657062;1725603;2153003 A005N47;G62090;UniSTS:48762 FLJ20297;FLJ20756;KIAA1418;NET13;NSMASE3;nSMase-3 OTTHUMP00000162391;OTTHUMP00000162392;OTTHUMP00000190862;SKNY protein;neutral sphingomyelinase 3;neutral sphingomyelinase III;sphingomyelin phosphodiesterase 4 APPROVED protein-coding ENSG00000136699 HGNC:32949 13374 610457 VALIDATED 1347939 SMPDL3A sphingomyelin phosphodiesterase, acid-like 3A ENCODES a protein that exhibits hydrolase activity, acting on glycosyl bonds (inferred); sphingomyelin phosphodiesterase activity (inferred); INVOLVED IN sphingomyelin catabolic process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 6 6 6 q22.31 123854285 123875174 + 123109601 123130865 + 122788456 122809720 + 1580863;6480464 12442002;12477932;14574404;15174051;15489334;16344560;22810003 10924 Q92484 ABBA01025981;AK000184;AK301365;AL732431;AMYH02014413;BC018999;BC066591;CH471051;DA510600;DC414598;NM_001286138;NM_006714;XM_005266797;XM_005266798;XM_005266799;XM_005266801;XM_005266802;Y08136 AAH18999;ABM83133;ABM86328;BAH13465;CAA69330;EAW48163;EAW48164;NP_001273067;NP_006705;Q92484;XP_005266854;XP_005266855;XP_005266856;XP_005266858;XP_005266859 Hs.486357 1644742;1758389;2109865;5017667 RH70964;SHGC-148224;SMPDL3A;SMPDL3A_9196 ASM3A;ASML3a;FLJ20177;yR36GH4.1 0610010C24Rik;ASM-like phosphodiesterase 3a;OTTHUMP00000017120;acid sphingomyelinase-like phosphodiesterase 3a protein-coding ENSG00000172594 HGNC:17389 10244 610728 VALIDATED 1316663 SMPDL3B sphingomyelin phosphodiesterase, acid-like 3B ENCODES a protein that exhibits hydrolase activity (inferred); hydrolase activity, acting on glycosyl bonds (inferred); sphingomyelin phosphodiesterase activity (inferred); INVOLVED IN metabolic process (inferred); sphingomyelin catabolic process (inferred); FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p35.3 26657114 26681282 + 28261456 28285663 + 27934993 27959152 + 1580863;6480464 12477932;15489334;16502470;16710414;16712791;19056867;23322567;23398456 27293 B4DE65;B4DEC6;F8VWW8;F8VXS3;Q5T0Y8;Q92485 ABBA01035006;AK293489;AK293566;AK301349;AK316500;AL512288;AMYH02000614;BC014444;BQ011468;BX389470;CB160850;CH471059;NM_001009568;NM_014474;Y08134 AAH14444;BAG56976;BAG57037;BAG62896;BAH14871;CAA69328;EAX07721;EAX07722;EAX07723;NP_001009568;NP_055289;Q92485 Hs.123659 1774435 SHGC-74460 ASML3B ASM-like phosphodiesterase 3b;OTTHUMP00000004004;OTTHUMP00000004005;OTTHUMP00000004006;OTTHUMP00000241359;acid sphingomyelinase-like phosphodiesterase 3b protein-coding ENSG00000130768 HGNC:21416 15405 VALIDATED 1349580 SMR3A submaxillary gland androgen regulated protein 3A ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH cadmium atom; 4-(ethoxymethylene)-2-phenyloxazol-5-one (ortholog); ammonium chloride (ortholog) 4 4 4 q13.3 68584242 68590573 + 71226493 71232823 + 70360776 70367106 + 6480464;8554872 12477932;15851553;17512016;18410445;9354371 26952 Q99954 ABBA01022926;AC106884;AK312075;AMYH02009420;BC140927;CA946421;CD722466;CD722957;CH471057;D89501;NM_012390 AAI40928;BAA13971;BAG35011;EAX05618;NP_036522;Q99954 Hs.701334 2124381;2170573 SHGC-35364;SHGC-67927 P-B1;PBI;PRL5;PROL5 OTTHUMP00000219116;proline rich 5 (salivary);proline- rich protein 5;proline-rich protein 5;proline-rich protein PBI;protein homologous to salivary proline-rich protein P-B;submaxillary gland androgen regulated protein 3 homolog A;submaxillary gland androgen-regulated protein 3A protein-coding ENSG00000109208 HGNC:19216 18077 VALIDATED 1345734 SMS spermine synthase This gene encodes a protein belonging to the spermidine/spermin synthase family. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene are associated with X-linked Snyder-Robinson mental retardation syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] X X X p22.1 26079796 26133909 + 21958691 22025798 + 21940573 22007213 + 1580863;6480464;6907045;7242932;7240710;7242425;7244193;8554872;8699517 13678416;2292587;23073625 12477932;12665801;14508504;15489334;15592455;15772651;16169070;18367445;18550699;19206178;19277733;19322201;20059804;21139048;21152090;21318891;21647366;21890473;21900206;21906983;21963094;22258329;22863883;22939629;23000965;23408511;23455922;23468611;23696453;23805436;24654937;24816145;5823961;7546290;8826448;9299240;9847074 6611 B4DE40;H7C2R7;P52788 ABBA01072017;ABBA01072018;ABBA01072019;ABBA01072020;ABBA01072021;ABBA01072022;ABBA01072023;AD001528;AK293455;AK313834;AMYH02039004;AMYH02039005;BC009898;BC085621;CH471074;NG_009228;NM_001258423;NM_004595;U53331;U72789;U73023;XM_005274582;XM_005274583;Z49099 AAB61308;AAD08634;AAH09898;AAH85621;ABW03798;BAG36567;BAG56951;CAA88921;EAW98984;EAW98985;EAW98986;NP_001245352;NP_004586;P52788;XP_005274639;XP_005274640 Hs.724874 1702854;2109867;2149097;2163211;2184142;5125884;5125886 A001U03;DXS7528;DXS7924;G19647;L47638;SMS_8632;WI-17538 MRSR;SPMSY;SRS;SpS OTTHUMP00000023048;OTTHUMP00000023049;Snyder-Robinson X-linked mental retardation syndrome;spermidine aminopropyltransferase APPROVED protein-coding ENSG00000102172 HGNC:11123 02115 182290;300105;309583 REVIEWED 5129249 SMPD4P1 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1 22 22 22 q11.21 4450199 4472530 - 20959274 20981606 - 20604987 20627319 - 645280 ABBA01015451;AC007050;AMYH02038077;AMYH02038078;CH471176;NG_028286 EAX02946 2149211;7184988 D22S1138 pseudo HGNC:39673 INFERRED 5508051 SMIM13 small integral membrane protein 13 FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; quinolin-8-ol; valproic acid 6 6 6 p24.2 12322733 12367437 + 11094266 11138971 + 11094033 11138738 + 6480464 12477932 221710 P0DJ93 AA724884;ABBA01022098;ABBA01022099;AK058186;AK299804;AL136139;AMYH02013103;BC032356;CH471087;NM_001135575 BAG61679;EAW55298;NP_001129047;P0DJ93 Hs.656600 1664811;1671716;1769091;1793526;2120520;2127984;2128820;2150117;2163002 AL031214;D6S1201E;PMC228468P4;RH12397;RH15828;RH17888;SHGC-33794;STS-N26559;WIAF-1567 C6orf228 OTTHUMP00000244580;UPF0766 protein C6orf228;hypothetical protein LOC221710;uncharacterized protein LOC221710 APPROVED protein-coding ENSG00000224531 HGNC:27356 VALIDATED 1601815 SMTNL1 smoothelin-like 1 SMTNL1, which is a member of the smoothelin (SMTN; MIM 602127) family, regulates contraction and relaxation of skeletal and smooth muscle fibers and mediates vascular adaptation to exercise (Wooldridge et al., 2008 [PubMed 18310078]).[supplied by OMIM, Dec 2010] 11 11 11 q12.1 54666633 54674266 + 57305044 57317747 + 57537571 57550274 + 6480464 15327999;18310078;20634291;21352594;8889549 219537 A8MU46;E9PPJ3 ABBA01021474;AMYH02024843;AP002893;NM_001105565;XM_005273819 A8MU46;AAI72381;NP_001099035;XP_005273876 Hs.68756 1655790;1854741;5092978 A009D26;G32448;RH65714 CHASM OTTHUMP00000235021;calponin homology-associated smooth muscle protein;smoothelin-like protein 1 APPROVED protein-coding ENSG00000214872 HGNC:32394 613664 PROVISIONAL 1315436 SMOC2 SPARC related modular calcium binding 2 This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 6 6 6 q27 169559437 169782279 + 168841831 169068674 + 168441151 168667994 + 625567;6480464;7240710;8699517;8554872 12031507 12477932;12741954;14574404;14702039;15489334;16774925;17204727;19759913;19890347;20379614;20965805;22152679;23317772;23463390 64094 H0Y3J4;H0Y5I1;Q9H3U7 AB014730;AB014737;ABBA01000394;ABBA01000395;ABBA01000396;ABBA01000397;ABBA01000398;AF173892;AF176778;AI032288;AJ249902;AJ420521;AK056700;AK297839;AK314613;AK315920;AL109940;AL136099;AL138918;AL442124;AL832303;AMYH02014990;AMYH02014991;AMYH02014992;AMYH02014993;BC028420;BC047583;CH471051;NG_032781;NM_001166412;NM_022138 AAH28420;AAH47583;AAQ13639;AAQ13656;BAB20267;BAB20274;BAG51789;BAG60173;BAH14291;CAC10353;CAI46175;EAW47461;EAW47462;EAW47463;EAW47464;NP_001159884;NP_071421;Q9H3U7 Hs.487200 1338198;1653444;1721347;1757339;1766631;1777051;2107629;2127369;2142430 D6S386;D6S992;G59673;RH45190;RH70362;SHGC-144743;SHGC-149927;SMOC2__6864;WI-13584 DTDP1;MST117;MSTP117;MSTP140;RP11-270C4__A.1;SMAP-2;SMAP2;SMOC-2;bA270C4A.1;bA37D8.1;dJ421D16.1 OTTHUMP00000017665;OTTHUMP00000017666;SPARC-related modular calcium-binding protein 2;secreted modular calcium-binding protein 2;smooth muscle associated protein 2;smooth muscle-associated protein 2;thyroglobulin type-1 repeat containing protein APPROVED protein-coding ENSG00000112562 HGNC:20323 06244 125400;607223 REVIEWED 1605229 SMTNL2 smoothelin-like 2 INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; methylmercury chloride 17 17 17 p13.2 4499504 4523839 + 4487276 4511614 + 4583981 4608319 + 6480464 12477932;16344560;21832049 342527 I3L3R4;Q2TAL5 ABBA01054770;AC118754;AK124452;AMYH02032825;AMYH02032826;BC105050;BC110859;BC112177;CH471108;DA822419;DB557882;NM_001114974;NM_198501;XM_005256622;XM_006721515 AAI05051;AAI10860;AAI12178;BAC85855;EAW90429;EAW90430;EAW90431;NP_001108446;NP_940903;Q2TAL5;XP_005256679;XP_006721578 Hs.441709 2126825 RH41994 FLJ42461;MGC131847;MGC138382 OTTHUMP00000163866;smoothelin-like protein 2 protein-coding ENSG00000188176 HGNC:24764 13463 VALIDATED 1345383 SMR3B submaxillary gland androgen regulated protein 3B ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 4-(ethoxymethylene)-2-phenyloxazol-5-one (ortholog); ammonium chloride (ortholog); cadmium dichloride (ortholog) 4 4 4 q13.3 68606545 68613711 + 71248795 71255961 + 70383078 70390244 + 6480464;8554872 10731710;12477932;15489334;1747107;22145905;479131;7982889 10879 P02814;Q504X8 AB031740;ABBA01022926;AC106884;AMYH02009420;BC015327;BC094707;BC144529;BX487896;CB958582;CH471057;D29833;NM_006685 AAH15327;AAH94707;AAI44530;ADZ15370;BAA06213;BAA88517;EAX05619;NP_006676;P02814 Hs.650650 2124381 SHGC-35364 MGC104379;P-B;PBII;PRL3;PROL3;SMR1B OTTHUMP00000159762;OTTHUMP00000219876;proline rich 3;proline-rich peptide P-B;proline-rich protein 3;salivary proline-rich protein;submaxillary gland androgen regulated protein 3 homolog B;submaxillary gland androgen-regulated protein 3B protein-coding ENSG00000171201 HGNC:17326 18078 611593 VALIDATED 1343755 SMU1 smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH lead(0); lead(2+); theophylline 9 9 9 p12 32973152 33007723 - 33041850 33076714 - 33041852 33076716 - 724659;6480464 11410362 11438655;12477932;12577067;14702039;15164053;15489334;15570572;17041588;18781797;19460752;19615732;20379614;21139048;21145461;21890473;21906983;21963094;22190034;22365833;22505724;22586326;22939629;23000965;23727573;24457600;24816145;8125298 55234 A0MNN4;Q2TAY7 ABBA01065070;ABBA01065071;ABBA01065072;AK001667;AK001732;AK022032;AK225559;AK225587;AK304767;AL162590;AL512690;AMYH02019414;BC002876;BC110654;CH471071;EF011613;NM_018225;XM_005251503 AAH02876;AAI10655;ABK41103;ABM83931;ABM87250;BAA91822;BAG65522;EAW58522;EAW58523;NP_060695;Q2TAY7;XP_005251560 Hs.655351 1673245;1699458;1703378;2124635;2172656;5014019;5020881;5020948;5022578;5037552;5093510;5115436 A009Q03;D1S1423;D5S2354;D8S2279;D9S1743;G32760;G35510;L17709;RH103320;RH48194;RH68042;SHGC-68674 BWD;DKFZp761L0916;FLJ10805;FLJ10870;FLJ11970;MGC117363;RP11-54K16.3;SMU-1;fSAP57 OTTHUMP00000021186;WD40 repeat-containing protein SMU1;brain-enriched WD-repeat protein;functional spliceosome-associated protein 57;smu-1 suppressor of mec-8 and unc-52 protein homolog protein-coding ENSG00000122692 HGNC:18247 11588 VALIDATED 1606814 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011] 12 12 12 q13.13 54226170 54233675 - 54574142 54582778 - 54180358 54188994 - 6480464;6907045 10074426;10583946;11526119;11937636;12161446;12477932;12718543;12820976;14702039;15466595;15489334;16103149;16189514;16344560;16407970;17029639;17150750;17360488;17537817;18270339;18835277;19324873;19365746;19403629;20226869;20522537;20574454;21427733;21454529;22483865;22939629;23246433;23253900;23714858;24253812;8125298 23583 D6RA25;D6RA78;D6RAI1;D6RAS0;D6RD88;D6RI04;D6RIA4;H0YA95;Q53HV7 ABBA01008364;AC023794;AF125182;AF489699;AI002776;AK001235;AK001789;AK091468;AK222473;AK290274;AMYH02026532;AX876298;BC000417;BC088352;BC105607;BG706635;BG764502;BU195802;CD245413;CH471054;DA430734;DA703553;NM_001243787;NM_001243788;NM_001243789;NM_001243790;NM_001243791;NM_014311;NR_045039;XM_006719319;XM_006719320;XM_006719321;XM_006719322 AAD17301;AAH00417;AAH88352;AAI05608;AAL86910;BAA91571;BAC03670;BAD96193;BAF82963;CAE89209;EAW96752;EAW96753;EAW96754;EAW96755;EAW96756;EAW96757;NP_001230716;NP_001230717;NP_001230718;NP_001230719;NP_001230720;NP_055126;Q53HV7;XP_006719382;XP_006719383;XP_006719384;XP_006719385 Hs.632721;Hs.731659 1721649;1790073;1790075;1848567;2107631;2114293;2125353 D12S1194E;D12S2015;G59835;RH11305;SMUG1__6865;csnpsmug1-pcr2-1;csnpsmug1-pcr3-1 FDG;HMUDG;MGC104370;UNG3 OTTHUMP00000217426;OTTHUMP00000217430;OTTHUMP00000217434;OTTHUMP00000217438;OTTHUMP00000217440;single-strand selective monofunctional uracil DNA glycosylase APPROVED protein-coding ENSG00000123415 HGNC:17148 06376 607753 REVIEWED 1312941 SMYD1 SET and MYND domain containing 1 ENCODES a protein that exhibits DNA binding (inferred); histone-lysine N-methyltransferase activity (inferred); metal ion binding (inferred); INVOLVED IN positive regulation of myoblast differentiation; positive regulation of myotube differentiation; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 6-propyl-2-thiouracil (ortholog); cefaloridine (ortholog) 2 2 2 p11.2 88373097 88418568 - 88367299 88412906 + 88067780 88113384 + 1580757;6480464;7242632;8554872 12858532;23200123 11923873;12011100;12477932;14702039;15489334;19162039;19783823;20379614;23382691;23455924;7590968 150572 C9JUP3;E9PHG3;Q5HYE8;Q8NB12 ABBA01018804;ABBA01018805;AC092836;AF086123;AK022290;AK091724;AL832035;AMYH02004254;AY518933;AY518934;BC017915;BC126191;BX647878;CH471215;NM_198274;XM_005264156 AAI26192;AAT44535;AAT44536;ACE86665;ACE87349;ADR83018;BAC03732;CAI46077;CAI46139;EAW77077;EAW77078;EAW77079;EAW77080;NP_938015;Q8NB12;XP_005264213 Hs.516176 1336804;1690962;2218040 D2S2216;RH92670;SMYD1_3717 BOP;KMT3D;ZMYND18;ZMYND22 CD8 beta opposite;OTTHUMP00000207183;OTTHUMP00000207184;SET and MYND domain-containing protein 1;histone-lysine N-methyltransferase SMYD1;zinc finger, MYND domain containing 18 protein-coding ENSG00000115593 HGNC:20986 06025 606846 VALIDATED 1354091 SMYD2 SET and MYND domain containing 2 SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008] 1 1 1 q32.3 187677508 187733362 + 214454565 214510477 + 214281222 214337134 + 1580863;2316155;6480464;6484113;7242554;7242632;8554872 19450511;22194015;23200123 12477932;15489334;15743541;16710414;16805913;17108971;17353931;18065756;19240061;19423649;20870719;21509594;21678921;21724641;21782458;21880715;22028380;22787429;23382691;23873367;24101509;24631370;24816145;24880080;8619474;9110174 56950 B0R0U3;Q9NRG4 ABBA01048148;ABBA01048149;AF070592;AF226053;AK098683;AK313868;AL929236;AMYH02002663;AW474469;BC017080;BC028104;BC039890;BC049367;BC057793;BC068511;BC094747;BC098133;BC098276;BC098305;BC098335;BG723585;CH471100;NM_020197;XR_426790 AAF86953;AAH17080;AAH28104;AAH49367;AAH98133;AAH98276;AAH98305;AAH98335;BAG36596;EAW93355;EAW93356;EAW93357;EAW93358;NP_064582;Q9NRG4 Hs.66170 1644165;1672456;2108509;2116968;2161477;2184014 AL009564;D1S1920E;D1S3517;SHGC-76336;SHGC-76339;SMYD2_8071 HSKM-B;KMT3C;MGC119305;ZMYND14 N-lysine methyltransferase SMYD2;OTTHUMP00000035134;SET and MYND domain-containing protein 2;histone methyltransferase SMYD2;lysine N-methyltransferase 3C;zinc finger, MYND domain containing 14 APPROVED protein-coding ENSG00000143499 HGNC:20982 15406 610663 VALIDATED 1603623 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010] 7 7 7 q22.1 93353908 93471364 - 98625058 98741743 - 99027435 99144120 - 2298922;2302550;6480464;6484113;6907045;8554872 12809600;17726579 10458166;10708948;10997877;11278251;12151385;12477932;12519765;12690205;12853948;12857866;14657019;14657501;14701756;14702039;14722617;15138260;15221015;15231748;15252135;15621726;15710384;15761148;15761153;15817471;15820682;16299379;16472676;16516194;16540523;16611643;16622418;16720724;17190792;17215250;17289590;17510966;17576816;17676934;17894482;17906294;18208356;18380791;18451154;18641638;18927080;18976975;19056867;19144635;19307600;19318350;19363486;19379695;19914168;19917253;19937093;20200942;20207742;20228798;20484049;20580715;20621832;20844743;21262463;21382345;21402695;21454619;21572392;21685363;21708152;21832049;21887346;21897371;21898695;21963094;22152476;22195013;22474288;22476926;22496338;22670624;22773947;22921829;22949615;23032291;23042388;23087404;23128233;23184937;23226367;23444366;23475958;23760265;23781096;23959799;23973329;23995790;24089522;24238996;24241683;24700460;24821572;24828823;25092867;8619474;8889548;9110174 57154 Q8NDD8;Q9HCE7 AB046845;ABBA01045693;ABBA01045694;ABBA01045695;AC004893;AC073468;AC114500;AF199364;AF464850;AK057024;AK126471;AL833673;AL834242;AMYH02016350;AMYH02016351;AMYH02016352;AY007164;BC008574;BC136804;BC144414;BC152468;BM981719;CH236956;CH471091;DB727777;NM_001199847;NM_020429;NM_181349;XM_005250507;XM_006716061;XM_006716062 AAC62434;AAF08298;AAI36805;AAI44415;AAI52469;AAM90910;BAB13451;CAD38919;EAL23885;EAL23886;EAW76686;EAW76687;EAW76688;EAW76689;EAW76690;NP_001186776;NP_065162;NP_851994;Q9HCE7;XP_005250564;XP_006716124;XP_006716125 Hs.189329 1686386;1693628;1735646;1853323;1853325;2107633;2136784;2141267;2181472;2181765;2187416 A005U06;D7S2062E;D7S2149E;G20498;HSC25H072;RH44466;SGC33466;SHGC-31299;SHGC-58544;SMURF1__6866;WI-10648 KIAA1625 E3 ubiquitin ligase SMURF1;E3 ubiquitin-protein ligase SMURF1;OTTHUMP00000024663;OTTHUMP00000205583;SMAD-specific E3 ubiquitin-protein ligase 1;Smad ubiquitination regulatory factor 1;Smad-specific E3 ubiquitin ligase 1;hSMURF1 APPROVED protein-coding ENSG00000198742 HGNC:16807 06902 605568 REVIEWED 1345810 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 ENCODES a protein that exhibits identical protein binding; SMAD binding; ubiquitin-protein transferase activity; INVOLVED IN ubiquitin-dependent protein catabolic process; ubiquitin-dependent SMAD protein catabolic process; PARTICIPATES IN Bone morphogenetic proteins signaling pathway; transforming growth factor-beta Smad dependent signaling pathway; endocytosis pathway; ASSOCIATED WITH Carcinoma, Squamous Cell (inferred); Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN ubiquitin ligase complex; INTERACTS WITH 1-nitropyrene; 17beta-estradiol; acetylsalicylic acid 17 17 17 q22-q23 57011021 57128748 - 62538400 62658386 - 64542282 64662268 - 1580863;2298922;2302550;6480464;6484113;6907045;8554872 12809600;17726579 11016919;11158580;11163210;11389444;12477932;14562029;14701756;14702039;14722617;14755250;15138260;15146197;15221015;15231748;15342556;15489334;15496141;15574587;15621726;15761153;15862290;16061177;16641086;17318188;17719543;17906294;18052755;18181147;18353873;18448069;18451154;18514338;18671942;18729074;18821706;18842593;18852296;18927080;19122240;19155312;19255252;19307600;19318350;19343052;19379695;19481076;19557001;19620243;19805145;19898560;19917253;20026602;20484049;20676133;20819168;20858899;20937913;21402695;21424732;21572392;21750651;21791611;21897371;21933340;21945933;21953463;21967197;22045334;22070932;22231558;22344298;22378783;22624557;22773947;22921829;23250956;23475958;23526793;23644597;23781096;23973329;24024966;24121673;24485087;24709419;24729608;24803334;24850914;25092867 64750 J3QLG1;J3QQM4;J3QRY2;Q96DE7;Q9HAU4 ABBA01035289;ABBA01035290;ABBA01035291;ABBA01035292;ABBA01035293;ABBA01035294;AC009994;AC132812;AF301463;AF310676;AK002019;AMYH02033792;AMYH02033793;AY014180;BC009527;BC034789;BC051283;BC093876;BC111945;BP363931;CB267500;CH471109;CN310238;CN370887;CR936721;KF456306;NM_022739;XM_005257585 AAG25641;AAG45422;AAG50421;AAH09527;AAH93876;AAI11946;EAW94193;EAW94194;EAW94195;NP_073576;Q9HAU4;XP_005257642 Hs.515011 1647040;1652119;1676920;1679876;1684004;1691130;1699216;2110751;2117583;2118163;2172446;5015961;5037552;5109281 1024;D15S1477;D1S1425;D8S2279;G29209;RH103189;RH15988;RH68026;RH75179;RH79618;RH79788;RH80586;SMURF2__6867;STS-T85104 DKFZp686F0270;MGC138150 E3 ubiquitin ligase SMURF2;E3 ubiquitin-protein ligase SMURF2;SMAD ubiquitination regulatory factor 2;SMAD-specific E3 ubiquitin-protein ligase 2;hSMURF2 protein-coding HGNC:16809 06901 605532 VALIDATED 7395957 SMUG1P1 single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1 18 18 18 q21.1 44032513 44033325 + 47176720 47177532 + 49650350 49651162 + 100129143 ABBA01018658;AC090227;AMYH02034697;NG_022491 pseudo HGNC:49401 INFERRED 1348508 SMYD3 SET and MYND domain containing 3 This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 1 q44 219204089 219959418 - 245912642 246670644 - 245749340 246507342 - 1580863;6480464;7242632;8554872 23200123 12477932;14667819;14702039;15235609;15342556;15489334;16081583;16155568;16441421;16710414;17353931;17431393;17963297;17998933;18006819;18027872;18294291;18452649;19321255;19403031;19509295;20379614;20725992;20957523;21167177;21266482;21450690;21779408;21832049;21890473;21906983;21988832;22194464;22419068;22659877;22810585;22819820;23251661;23455924;23793025;24174655;24189459;24250222;24315451;24847881;25036637;25092459 64754 A8MXR1;B0QZ88;B0QZ99;B0QZA0;B3KN46;Q9H7B4 AB057595;ABBA01047153;ABBA01047154;ABBA01047155;ABBA01047156;ABBA01047157;ABBA01047158;ABBA01047159;ABBA01047160;ABBA01047161;ABBA01047162;ABBA01047163;ABBA01047164;ABBA01047165;ABBA01047166;ABBA01047167;ABBA01047168;AC092801;AC094022;AC118555;AK023594;AK024733;AK289605;AL356583;AL358859;AL358941;AL445468;AL512412;AMYH02003107;AMYH02003108;AMYH02003109;AMYH02003110;AMYH02003111;AMYH02003112;AMYH02003113;AW173130;AX883002;AY186742;BC017079;BC031010;BC107725;BI916760;BP231249;CH471148;NM_001167740;NM_022743;XM_005273228;XM_005273229 AAH17079;AAH31010;AAI07726;AAO31695;ABM83506;ABM86723;BAB14981;BAB86333;BAF82294;BAG51208;CAE91805;EAW77139;EAW77140;EAW77141;EAW77142;EAW77143;EAW77144;NP_001161212;NP_073580;Q9H7B4;XP_005273285;XP_005273286 Hs.567571 1645163;1645165;1670886;1673025;1673767;1692506;1700646;1706442;1709332;1712661;1712833;1713869;1714511;1718549;1726405;1755759;1761755;1763985;1777874;1780074;1851043;1853577;2109869;2139820;2139822;2157154;2165984;2187004 A002C15;A005P22;AFM155xc11;AL009278;AL009348;AL009702;AL033905;G16310;G19923;G20398;G62503;RH103946;RH119365;RH119768;RH120133;RH121995;RH122476;SHGC-142609;SHGC-145721;SHGC-154325;SHGC-155319;SHGC-57105;SHGC-76629;SHGC-76635;SHGC-76636;SHGC-80803;SHGC-81660;SMYD3_8086 FLJ21080;KMT3E;MGC104324;ZMYND1;ZNFN3A1;bA74P14.1 OTTHUMP00000038321;SET and MYND domain-containing protein 3;bA74P14.1 (novel protein);histone-lysine N-methyltransferase SMYD3;zinc finger MYND domain-containing protein 1;zinc finger protein, subfamily 3A (MYND domain containing), 1;zinc finger, MYND domain containing 1 APPROVED protein-coding ENSG00000185420 HGNC:15513 12297 608783 VALIDATED 1319335 SMYD5 SMYD family member 5 ENCODES a protein that exhibits metal ion binding (inferred); methyltransferase activity (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; cyclosporin A 2 2 2 p13.2 73292193 73305182 + 73441366 73454355 + 73214238 73227227 + 6480464 12477932;15489334;21139048;21906983;24816145;8754834 10322 C9IYN9;E2QRN5;F8WEJ9;Q6GMV2 ABBA01075579;AC010913;AK300779;AK301809;AMYH02004072;BC009484;BC073806;CH471053;DC303248;NM_006062;U50383;XM_005264082;XM_006711917;XM_006711918 AAB38131;AAH73806;ABZ92291;BAG62443;BAG63258;EAW99744;EAW99745;NP_006053;Q6GMV2;XP_005264139;XP_006711980;XP_006711981 Hs.631882 2126473 RH70659 NN8-4AG;RAI15;RRG1;ZMYND23 OTTHUMP00000197473;SET and MYND domain-containing protein 5;retinoic acid induced 15;retinoic acid responsive;retinoic acid-induced protein 15 protein-coding ENSG00000135632 HGNC:16258 18080 VALIDATED 1352063 SNAI1P1 snail family zinc finger 1 pseudogene 1 2 2 2 q33-q37 204441229 204442958 + 210673446 210675148 + 209808722 209810424 + 10543399;10585766;12151403;16804902;19277896;9847074 10415 ABBA01062730;AC006385;AF153502;AJ245660;AMYH02005675;NG_000884 SNAI1L;SNAI1L1;SNAI1P snail homolog 1 like 1 (drosophila) APPROVED pseudo HGNC:11129 INFERRED 1320987 SMTN smoothelin This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011] 22 22 22 q12.2 15277437 15300741 + 31477282 31500610 + 31081296 31104624 + 1580863;6480464;8554872 10023778;10023782;10550614;10591208;10627276;11316948;12176134;12477932;14702039;15302935;15717329;16919237;17549794;19252475;19950405;20154589;20360068;20636795;20716166;21139048;21150319;21164287;21472682;21683983;22118674;22960022;22963604;23000965;23033319;23060305;23121329;23568457;24043717;24409061;8125298;8707825;9113392;9244445;9847074 6525 B4DI56;B4E229;B5MCI0;C9JBH9;C9JGQ0;C9JP19;C9JQZ8;C9JV14;C9JYU8;H7BZZ8;H7C372;P53814 AB209643;ABBA01055320;AC005005;AF064238;AF115551;AF115552;AF115553;AF115554;AF115555;AF115556;AF115557;AF115558;AF115559;AF115560;AF115561;AF115562;AF115563;AF115564;AF115565;AF115566;AF115567;AF115568;AF115569;AF115570;AJ010306;AK092487;AK092684;AK095916;AK095930;AK096953;AK128627;AK128719;AK225648;AK293681;AK295418;AK300064;AK300854;AK301289;AK303424;AK304084;AK307627;AK309502;AMYH02038227;AY061971;AY061972;BC034237;CH471095;DC342566;NG_029838;NM_001207017;NM_001207018;NM_006932;NM_134269;NM_134270;XM_006724298;XM_006724299;XM_006724300;XM_006724301;XM_006724302;XM_006724303;XM_006724304;XM_006724305;XM_006724306;XM_006724307;XR_430410;Y13492;Z49989 AAD15619;AAF01481;AAF03562;AAF03563;AAH34237;AAL36149;AAL36150;ABM82102;ABM85284;BAD92880;BAG52594;BAG53165;BAG53168;BAG53398;BAG54703;BAG54716;BAG57122;BAG58368;BAG61871;BAG62504;BAG62847;BAG64475;BAG64991;CAA09077;CAA73884;CAA90281;EAW59925;EAW59926;EAW59927;EAW59928;EAW59929;EAW59930;EAW59931;EAW59932;NP_001193946;NP_001193947;NP_008863;NP_599031;NP_599032;P53814;XP_006724361;XP_006724362;XP_006724363;XP_006724364;XP_006724365;XP_006724366;XP_006724367;XP_006724368;XP_006724369;XP_006724370 Hs.149098 1693828;1778830;2157495;2162455;5015961;5022322 D11S2560;D15S1477;D22S600;RH65333;SHGC-57277;STS-W72233 FLJ35168;FLJ35365;FLJ35620;FLJ38597 OTTHUMP00000199381;OTTHUMP00000199382;OTTHUMP00000199383;OTTHUMP00000199384 APPROVED protein-coding ENSG00000183963 HGNC:11126 03675 602127 REVIEWED 1320115 SNAI3 snail family zinc finger 3 SNAI3 is a member of the SNAIL gene family, named for the Drosophila snail gene, which plays roles in mesodermal formation during embryogenesis (Katoh and Katoh, 2003 [PubMed 12579345]).[supplied by OMIM, Apr 2009] 16 16 16 q24.3 73813753 73822552 - 88744090 88753192 - 88677682 88687264 - 6480464 12477932;12579345;14673164 333929 Q3KNW1 ABBA01015843;AC138028;AMYH02032642;AMYH02032643;BC041461;BC107058;CH471184;NM_178310;XM_005256310 AAH41461;AAI07059;EAW66765;NP_840101;Q3KNW1;XP_005256367 Hs.673548 MGC129606;SMUC;SNAIL3;ZNF293;Zfp293 snail homolog 3;zinc finger protein 293;zinc finger protein SNAI3 APPROVED protein-coding ENSG00000185669 HGNC:18411 18781 612741 VALIDATED 1351785 SNAP23P synaptosomal-associated protein, 23kDa pseudogene 20 20 20 q13.13 44359509 44359754 + 47654895 47655146 - 49038358 49038609 - 101290500 ABBA01052730;AL121903;AMYH02037201;NG_033168 dJ155G6.3 pseudo HGNC:16561 INFERRED 1604652 SNAP23 synaptosomal-associated protein, 23kDa Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q14 19555540 19592958 + 42783442 42825259 + 42495260 42533061 + 2302393;2302397;2312656;6480464;8554872 17717074;18431594;18570632 10036234;10373452;10588641;10713150;10820264;10839363;11001914;11029050;11031247;11252894;11354632;11444845;11842301;11994746;12121992;12124380;12130530;12209004;12434312;12475239;12477932;12551899;12556468;12651853;12665801;12773094;12828989;12832401;12853575;12877659;12930825;15029241;15489334;15610015;15635093;16180048;16189514;16272324;16341674;16344560;17485553;17825825;18029348;18457912;18588921;18665925;19056867;19086053;19322201;19738201;19910495;20416077;20460426;20519516;20562859;21139048;21642540;21768361;21900206;21906983;21963094;21981832;21987572;22261722;22939629;23000965;23087210;24250222;24373201;24722188;24816145;25015289;8663154;9070898;9168999;9507000;9614185;9693005;9701566;9727496;9815132;9852078 8773 A8K287;H3BM38;H3BNE1;H3BNG6;H3BP15;H3BPJ0;H3BQY9;H3BR18;H3BR99;H3BU94;H3BV99;O00161 ABBA01038369;ABBA01038370;ABBA01038371;ABBA01038372;ABBA01038373;AC018362;AJ011915;AJ278972;AJ278973;AJ278974;AK290152;AK313161;AK315279;AMYH02030285;AMYH02030286;BC000148;BC003686;BC022890;BI918294;BM782600;BT006916;CH471125;CR457212;DA650133;DA882401;NM_003825;NM_130798;U55936;XM_006720725;Y09567;Y09568 AAC50537;AAH00148;AAH03686;AAH22890;AAP35562;ABM85012;BAF82841;BAG35979;CAA09864;CAA70760;CAA70761;CAC07504;CAG33493;EAW92556;EAW92557;EAW92558;EAW92559;NP_003816;NP_570710;O00161;XP_006720788 Hs.511149 1679387;2129998;2173831;5093256;5107608;5124864 A009K18;G32612;RH17890;RH77806;RH93442;STS-H02552 HsT17016;SNAP-23;SNAP23A;SNAP23B OTTHUMP00000161203;OTTHUMP00000161263;synaptosomal-associated protein 23;synaptosomal-associated protein, 23kD;vesicle-membrane fusion protein SNAP-23 APPROVED protein-coding ENSG00000092531 HGNC:11131 03962 602534 REVIEWED 7051313 SNAI3-AS1 SNAI3 antisense RNA 1 INTERACTS WITH all-trans-retinoic acid 16 16 16 q24.3 73799446 73823264 + 88729781 88753594 + 88663373 88687186 + 6480464 12477932;14702039 197187 ABBA01015843;AC116552;AC138028;AK094837;AMYH02032641;AMYH02032642;AMYH02032643;AY203928;BC015583;BC050404;BQ446432;BX640980;HG508474;HG508475;HG508476;HG508477;KF459804;NR_024399;NR_024402 AAP34451 Hs.499548 5037552 D8S2279 RP5-1142A6.3 ncrna ENSG00000260630 HGNC:28327 VALIDATED 736270 SMPX small muscle protein, X-linked This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011] X X X p22.1 25845385 25897515 - 21724090 21776278 - 21705972 21758160 - 1580863;6480464;7240710;8699517;8554872 10598820;11401441;12477932;15489334;20301607;21549336;21549342;21893181;22911656;8872482;8889548 23676 Q9UHP9 ABBA01071990;ABBA01071991;ABBA01071992;ABBA01071993;ABBA01071994;ABBA01071995;ABBA01071996;AF129505;AJ250584;AK312134;AL772370;AL772392;AMYH02039001;BC005948;BF126275;BM674432;CH471074;NG_031916;NM_014332;NR_045617 AAF19343;AAH05948;BAG35070;CAC08492;EAW98980;EAW98981;NP_055147;Q9UHP9 Hs.734084;Hs.86492 1702866;1850142;1856062 DXS365;DXS8331;RH41821 DFN6;DFNX4 OTTHUMP00000023044;deafness, X-linked 6, sensorineural;small muscular protein;stretch-responsive skeletal muscle protein APPROVED protein-coding ENSG00000091482 HGNC:11122 02204 300066;300226 REVIEWED 1316528 SMYD4 SET and MYND domain containing 4 ENCODES a protein that exhibits metal ion binding (inferred); methyltransferase activity (inferred); INVOLVED IN methylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate; paracetamol 17 17 17 p13.3 1699373 1749745 - 1682829 1733175 - 1779535 1829881 - 1580863;6480464;8554872 11572484;11752456;12477932;14702039;15146197;15489334;16344560;19383909;20379614;20705733;24250222;8889548 114826 I3L1V4;I3L2P4;I3L428;I3L496;Q8IYR2 AB067523;ABBA01054677;ABBA01054678;ABBA01054679;ABBA01054680;AC130689;AK057769;AK092149;AK095369;AL137345;AMYH02032751;AMYH02032752;AMYH02032753;AMYH02032754;AV700545;BC035077;BM676597;CH471108;CN352185;CR987176;DB219337;KC877625;NM_052928;XM_005256436;XM_006721437;XR_429808 AAH35077;BAB67829;BAB71564;BAC04538;EAW90576;NP_443160;Q8IYR2;XP_005256493;XP_006721500 Hs.514602 1689710;5014051;5015619;5015879;5015961;5016478;5017433;5020635;5021872;5037552;5109281 D11S3114;D15S1477;D1S1425;D7S3207;D8S2278;D8S2279;GDB:314949;GDB:434012;RH99281;STS-T76997;sY3084 KIAA1936;ZMYND21 OTTHUMP00000115681;SET and MYND domain-containing protein 4 protein-coding ENSG00000186532 HGNC:21067 18079 VALIDATED 1347076 SNAI1 snail family zinc finger 1 The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008] 20 20 20 q13.2 45304074 45309984 + 48599513 48605423 + 49982976 49988886 + 1580863;6480464 10543399;10585766;10655587;10773451;11245431;11780052;11912130;12082640;12161443;12477932;12632084;12668723;12832491;14507651;14673164;15026811;15075229;15286702;15302935;15314165;15448698;15467754;15489334;15631989;15647282;15712635;15742334;15836774;16096638;16169460;16203744;16207734;16328348;16344560;16502042;16568079;16858414;16936774;17060462;17072303;17296734;17353931;17545014;17616667;17692821;17724139;17914115;17952120;18026186;18043286;18089802;18234959;18256147;18321996;18331720;18347060;18469861;18519590;18554584;18559496;18676743;18691339;18799618;18832382;19004823;19010907;19046938;19107228;19124656;19198871;19245592;19269083;19347028;19381684;19386897;19411070;19412634;19440385;19502595;19533388;19604315;19604397;19641025;19651985;19695091;19784072;19789323;19795442;19802011;19821482;19860811;19861116;19887480;19915148;19923321;19955572;20089328;20091050;20121949;20138990;20150431;20166136;20211142;20348013;20385133;20389281;20397042;20403241;20421926;20489148;20514449;20534591;20543867;20562920;20576520;20620220;20628624;20634891;20823140;20851575;20947514;20952218;20953189;20957493;20959806;21088236;21225336;21300290;21315410;21315411;21317430;21321977;21324165;21360437;21448462;21454664;21478114;21577210;21617757;21633953;21638011;21643654;21646478;21685935;21796367;21808237;21809991;21830269;21834956;21839581;21853110;21885439;21952048;21963453;22006115;22024162;22028892;22128911;22131135;22134354;22158034;22199300;22246525;22248055;22267549;22276203;22307688;22344746;22349639;22382019;22393371;22406531;22471493;22471696;22514743;22562246;22562247;22580338;22580609;22586581;22629832;22745173;22791710;22820858;22903530;22923499;22974478;23011797;23029563;23052737;23054398;23075682;23076049;23185371;23196056;23246564;23254865;23261431;23261444;23288509;23342249;23431386;23435375;23449453;23454378;23496980;23510993;23522088;23524585;23582741;23611780;23644467;23677639;23707238;23761168;23762395;23783653;23788111;23791009;23791882;23792447;23799116;23807662;23831330;23850675;23856093;23891091;23900729;23973669;23979441;24001613;24022665;24081672;24085291;24106276;24126595;24154725;24157836;24203464;24242829;24333218;24354880;24365974;24384091;24402192;24424718;24489910;24561623;24565133;24607896;24648349;24760275;24861866;24878522;24903147;25019394 6615 O95863 ABBA01052765;AF125377;AF131208;AF155233;AF177731;AJ245657;AJ245658;AJ245659;AK313228;AL121712;AMYH02037224;BC012910;BI822180;CH471077;DA972913;HI422754;NM_005985 AAD17332;AAD52986;AAD52996;AAF32527;AAH12910;ABM82525;ABM85719;BAG36039;CAB52414;CBX55848;EAW75640;NP_005976;O95863 Hs.48029 SLUGH2;SNA;SNAH;SNAIL1;dJ710H13.1 OTTHUMP00000031680;SNAIL;snail 1 homolog;snail 1 zinc finger protein;snail 1, zinc finger protein;snail homolog 1;zinc finger protein SNAI1 APPROVED protein-coding ENSG00000124216 HGNC:11128 05025 604238 REVIEWED 735746 SNAP29 synaptosomal-associated protein, 29kDa This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 4704631 4736842 + 21213292 21245502 + 20859004 20891214 + 1299477;1580863;6480464;7240710;8554872;8699517 9852078 10591208;10839363;11317222;11423532;11444821;11707603;12477932;12853575;15371016;15461802;15489334;15890653;15968592;16009131;16189514;18029348;19086053;19350501;19738201;20305790;20360068;20562859;21073448;21139048;21906983;21988832;22558309;22792062;23000965;23231787;24250222;24722188;24816145;9880331 9342 C9JAF7;O95721 ABBA01015442;AC007308;AF115436;AF278704;AK024704;AMYH02038080;AMYH02038081;BC009715;BF435261;BG773022;BT007357;CA427899;CH471176;CR456582;NG_012152;NM_004782 AAD11436;AAF91421;AAH09715;AAP36021;CAG30468;CAK54612;CAK54911;EAX02935;NP_004773;O95721 Hs.108002 1654559;1696938;1707876;2109871;2166002;5022200;5022578 D1S1423;D22S1201;L18426;RH101941;RH68848;SHGC-82177;SNAP29__6871 FLJ21051;SNAP-29 CEDNIK;OTTHUMP00000198464;OTTHUMP00000198533;soluble 29 kDa NSF attachment protein;synaptosomal-associated protein 29;synaptosomal-associated protein, 29kD;vesicle-membrane fusion protein SNAP-29 APPROVED protein-coding ENSG00000099940 HGNC:11133 11968 604202;609528 REVIEWED 6893014 SNAP25-AS1 SNAP25 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 20 20 20 p12.2 10074583 10270145 - 10004460 10200154 - 10023812 10219506 - 8554872 16344560;23648065 100131208 ABBA01053932;AK124961;AL109754;AL354824;AMYH02036694;AMYH02036695;BF244758;DA318406;HG511174;HG511177;NR_040710 Hs.658178 1339840;1340083;1644052;1734182;1754073;1761817;1858263;2115015;2121528;2171731 D20S1075;D20S162;D20S504;D20S901;RH47929;SHGC-132109;SHGC-145770;STS-H93070;WI-11410;Z94390 ncrna ENSG00000227906 HGNC:44312 VALIDATED 6483991 SNAP47-AS1 SNAP47 antisense RNA 1 q42.13 14702039 100885800 AK057311 Hs.668786 SNAP47-IT1 APPROVED ncrna HGNC:41501 1601832 SNAP47 synaptosomal-associated protein, 47kDa INVOLVED IN long-term synaptic potentiation (inferred); FOUND IN BLOC-1 complex; INTERACTS WITH arsenous acid; copper(2+) sulfate; diarsenic trioxide 1 1 1 q42.13 201114401 201160635 + 227922697 227968932 + 227734996 227781231 + 6480464 12477932;14702039;16621800;19546860;21139048;21906983;21963094;22373659;22797925 116841 H0Y627;H7C3C7;Q5SQN1;U3KPT7 ABBA01009608;ABBA01009609;AK054633;AL136378;AL731702;AMYH02002831;AMYH02002832;AY090635;BC001332;BC004418;BC007786;BC011145;BC014059;BC018760;BC025231;BX648570;CH471098;FJ236305;KF455143;NM_053052;XM_005273041;XM_005273043;XM_005273044;XM_006711734 AAH01332;AAH04418;AAH07786;AAH11145;AAH14059;AAH18760;AAH25231;AAM09082;ACI45237;BAB70779;CAI45994;EAW69816;EAW69817;NP_444280;Q5SQN1;XP_005273098;XP_005273100;XP_005273101;XP_006711797 Hs.325081 1735212;1767222;2118448;2118450;2148400;5037738 D1S1837E;D1S3689;HSC0YB102;SHGC-32828;SHGC-76435;SHGC-76436 C1orf142;DKFZp686M10160;FLJ12517;HEL170;SNAP-47;SVAP1 OTTHUMP00000035832;OTTHUMP00000035834;epididymis luminal protein 170;synaptosomal-associated 47 kDa protein;synaptosomal-associated protein 47 protein-coding ENSG00000143740 HGNC:30669 17148 VALIDATED 735659 SNAI2 snail family zinc finger 2 This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008] 8 8 8 q11 45817447 45821199 - 49830236 49833999 - 48917677 48921440 - 1600041;1580863;6480464;7240710;8699517;8554872 12444107 10479723;10518215;10866665;11912130;12477932;14673164;15314165;15337769;15489334;15709186;15734731;15737616;16169465;16344560;16541421;16707493;16717446;16924233;16952353;17194444;17724139;17984306;18056415;18160708;18256147;18485278;18588516;18628477;18663143;18685621;18716062;18799618;18853422;19046938;19381684;19389926;19448627;19460752;19502595;19681038;19751508;19756381;19784072;19821482;20019845;20101232;20128911;20138990;20150431;20418652;20503457;20509143;20564361;20565806;20594328;20622260;20634891;20651304;20730573;20738754;20809941;21044962;21053100;21081648;21120639;21182836;21199805;21207222;21274735;21470622;21532623;21593765;21599940;21632819;21645238;21645451;21647877;21656704;21785273;21808237;21809991;21832049;22028892;22074556;22178381;22208948;22232246;22232555;22288519;22385965;22421353;22471696;22490800;22493711;22496452;22503751;22508482;22727060;22745193;22801439;22820858;22886823;22899291;22911700;22937066;22974478;23011797;23029385;23031797;23052737;23059759;23086238;23142026;23190132;23226515;23244088;23248240;23250725;23352643;23354685;23410973;23430442;23434592;23438693;23447531;23521708;23566666;23567973;23634282;23677639;23743248;23815612;23851495;23856032;23856093;23900394;23911747;23996472;24001454;24027338;24036252;24100634;24210586;24233839;24280681;24367561;24379252;24403312;24427353;24549638;24657653;24662746;24760686;24830722;8125298;9182671;9337409;9721220 6591 O43623 AA410443;ABBA01041658;AC013701;AF042001;AF084243;AK223368;AK312661;AMYH02017947;BC014890;BC015895;BG706203;CH471068;DA522147;NG_012130;NM_003068;U97060 AAB58705;AAC34288;AAD55240;AAH14890;AAH15895;ABZ92391;BAD97088;BAG35543;EAW86700;NP_003059;O43623 Hs.360174 1698566;1753251;1774043;2107635;5492258 RH102835;RH48259;SHGC-110054;SNAI2__6869;Snai2 MGC10182;SLUG;SLUGH1;SNAIL2;WS2D OTTHUMP00000195093;neural crest transcription factor SLUG;slug (chicken homolog), zinc finger protein;snail 2;snail homolog 2;zinc finger protein SNAI2 APPROVED protein-coding ENSG00000019549 HGNC:11094 03689 172800;602150;608890 REVIEWED 1312249 SNAPC1 small nuclear RNA activating complex, polypeptide 1, 43kDa ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN gene expression (inferred); regulation of transcription, DNA-templated (inferred); transcription from RNA polymerase III promoter (inferred); FOUND IN nucleoplasm (inferred); INTERACTS WITH 5-fluorouracil; aflatoxin B1; benzo[a]pyrene diol epoxide I 14 14 14 q22 42279530 42313604 + 62229075 62263146 + 61762357 61796428 + 1580863;6480464 11056176;11094070;12477932;12621023;15489334;15955816;20211142;21139048;21890473;22966203;23000965;24250222;7715707;8524284;9003788;9644240 6617 B2RC42;Q16533 ABBA01018302;ABBA01018303;AK314933;AL137129;AMYH02029317;AMYH02029318;BC014984;BC019038;CH471061;NM_003082;U44754;Z47542 AAC50358;AAH14984;AAH19038;ABM83609;ABM86852;BAG37439;CAA87590;EAW80810;NP_003073;Q16533 Hs.179312 1644068;1666174;1677915;1742633;5014051;5021872 D14S1334;D8S2278;GDB:198173;RH93275;STS-U44754;sY3084 PTFgamma;SNAP43 OTTHUMP00000179060;PSE-binding factor subunit gamma;PTF subunit gamma;SNAPc 43 kDa subunit;SNAPc subunit 1;proximal sequence element-binding transcription factor subunit gamma;small nuclear RNA activating complex, polypeptide 1, 43kD;small nuclear RNA-activating complex polypeptide 1;snRNA-activating protein complex 43 kDa subunit;snRNA-activating protein complex subunit 1 protein-coding ENSG00000023608 HGNC:11134 08998 600591 VALIDATED 1312116 SNAPC2 small nuclear RNA activating complex, polypeptide 2, 45kDa This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 19 19 19 p13 7856396 7859338 + 7985194 7988136 + 7920309 7923251 + 1580863;6480464 11056176;11318610;12477932;12621023;15342556;15489334;16769183;18356157;21444690;7715707;8125298;8524284;8633057;9003788;9418884;9488448;9732265 6618 M0QXY9;M0R1L8;Q13487 ABBA01010876;AC010336;AK222926;AK314878;AMYH02035411;BC011868;BP234322;BX647416;CF454397;CH471139;EC481022;NM_003083;NR_030717;U44755;U44898 AAB06230;AAC50359;AAH11868;ABZ92146;ABZ92431;BAD96646;BAG37393;EAW68957;EAW68958;NP_003074;Q13487 Hs.631860 1682930 RH98907 PTFdelta;SNAP45 PSE-binding factor subunit delta;PTF subunit delta;SNAPC 45 kDa subunit;SNAPc subunit 2;proximal sequence element-binding transcription factor subunit delta;small nuclear RNA activating complex, polypeptide 2, 45kD;small nuclear RNA-activating complex polypeptide 2;snRNA-activating protein complex 45 kDa subunit;snRNA-activating protein complex subunit 2 APPROVED protein-coding ENSG00000104976 HGNC:11135 05464 605076 REVIEWED 731271 SNAP91 synaptosomal-associated protein, 91kDa ENCODES a protein that exhibits protein kinase binding (ortholog); INVOLVED IN clathrin coat assembly (inferred); protein transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN clathrin coat (inferred); coated pit (inferred); plasma membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; arsenite(3-) 6 6 6 q14.2 84695893 84852438 - 84262604 84419127 - 83552885 83709408 - 1580863;6480464;8554872 10430869;10436022;10579202;10748223;11779129;12477932;12493563;12538641;12732633;12750376;12807910;12847086;14574404;15345747;15489334;15555551;16344560;17043677;17762867;19086053;19450545;20379614;20511563;20847448;21808019;21813615;22479182;22639918;22939629;23092984;23678185;8063760;8619474;9110174;9734811 9892 B7Z2N2;E5RFC6;E5RFU0;E5RGP8;E5RGY9;E5RHK9;E5RIJ5;E5RJY3;E5RK51;E5RK53;E9PDG8;H0UI15;H0YBT2;O60641 AB014556;ABBA01040457;AF054993;AK289582;AK294556;AK294898;AL109915;AMYH02014017;BC036650;BC044579;BC060818;CH471051;CR749348;DA110036;DA307867;DA316497;DA323323;DB480068;KF458213;NM_001242792;NM_001242793;NM_001242794;NM_001256717;NM_001256718;NM_014841;XM_005248770;XM_006715615;XM_006715616;XM_006715617;XM_006715618;XM_006715619;XM_006715620;XM_006715621 AAC09352;AAH60818;BAA31631;BAF82271;BAH11808;BAH11918;CAH18201;EAW48656;EAW48657;EAW48658;EAW48659;EAW48660;EAW48661;NP_001229721;NP_001229722;NP_001229723;NP_001243646;NP_001243647;NP_055656;O60641;XP_005248827;XP_006715678;XP_006715679;XP_006715680;XP_006715681;XP_006715682;XP_006715683;XP_006715684 Hs.368046 1338552;1748879;1750329;1772499;2158459;5109577;5491581 D19S703E;D6S1609;D6S1922;MARC_21740-21741:1023217238:1;RH1538;SHGC-110549;SHGC-112644 AP180;CALM;DKFZp781O0519;KIAA0656 91 kDa synaptosomal-associated protein;OTTHUMP00000016794;OTTHUMP00000016795;OTTHUMP00000224760;OTTHUMP00000224761;OTTHUMP00000224789;OTTHUMP00000224797;OTTHUMP00000224798;OTTHUMP00000224841;assembly protein, 180kDa;clathrin coat assembly protein AP180;clathrin coat-associated protein AP180;phosphoprotein F1-20;synaptosomal-associated protein, 91kDa homolog APPROVED protein-coding ENSG00000065609 HGNC:14986 06391 607923 VALIDATED 5508550 SNAPC5P1 small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1 6 6 6347320 6347600 - 6347087 6347367 - 100750245 ABBA01022019;AL133326;AMYH02013047;NG_030348 pseudo HGNC:38667 INFERRED 1313043 SNAPC3 small nuclear RNA activating complex, polypeptide 3, 50kDa ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN gene expression (inferred); regulation of transcription, DNA-templated (inferred); snRNA transcription (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH (S)-nicotine; atrazine; carmustine 9 9 9 p22.3 15356122 15394975 + 15422694 15466747 + 15422696 15462596 + 1580863;6480464 11056176;11094070;12477932;12621023;15164053;15489334;16901896;17474147;21890473;21906983;21963094;22505724;22797925;7715707;8524284;8816454;900378;9003788 6619 Q5T282;Q5T284;Q92966 ABBA01065278;ABBA01065279;AK293310;AL441925;AMYH02019209;AMYH02019210;AMYH02019211;BC014985;BC036031;BC108743;BC121011;BC121012;CH471071;NM_001039697;U66413;U71300;XR_428427 AAC50948;AAD09214;AAH14985;AAI08744;AAI21012;AAI21013;ABZ92234;BAG56830;EAW58680;EAW58681;EAW58682;NP_001034786;Q92966 Hs.546299 1653591;1681734;1684788;1735924;1739119;2163996;2172649 D9S1059E;D9S1630;G30507;RH78643;RH80849;RH92362;STS-H39845 MGC132011;MGC33124;PTFbeta;SNAP50 OTTHUMP00000021068;OTTHUMP00000021069;OTTHUMP00000021070;OTTHUMP00000021072;PSE-binding factor subunit beta;PTF subunit beta;SNAPc 50 kDa subunit;SNAPc subunit 3;proximal sequence element-binding transcription factor subunit beta;small nuclear RNA activating complex, polypeptide 3, 50kD;small nuclear RNA-activating complex polypeptide 3;snRNA-activating protein complex 50 kDa subunit;snRNA-activating protein complex subunit 3 protein-coding HGNC:11136 03826 602348 VALIDATED 2303858 SNAR-A1 small ILF3/NF90-associated RNA A1 19 19 q13.33 48421686 48421807 + 47918429 47918550 + 17855395 100126798 AC124853;AMYH02036277;EU071051;NR_004435 Hs.579631 SNAR-A53113498 snrna HGNC:34304 PROVISIONAL 1313202 SNAPC5 small nuclear RNA activating complex, polypeptide 5, 19kDa ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN gene expression (inferred); regulation of transcription, DNA-templated (inferred); transcription from RNA polymerase II promoter (inferred); FOUND IN nucleus; INTERACTS WITH arsenous acid; copper(2+) sulfate; diarsenic trioxide 15 15 15 q22.31 43671873 43679351 - 66782666 66790146 - 66490328 66497808 - 1580863;6480464 11056176;12477932;15146197;15489334;15867431;16189514;16344560;22797925;9732265 10302 H3BQA0;H3BSI3;O75971 ABBA01038819;AC116913;AF093593;AK024763;AK292051;AK312018;AMYH02030649;BC014315;CD685245;CH471082;CN347010;DB037177;NM_006049 AAC61873;AAH14315;BAF84740;EAW77770;EAW77771;EAW77772;NP_006040;O75971 Hs.30174 1682261;1684367;1685355;1744317;1797840;2138203 GDB:451670;MAP2K1_2178;RH28581;RH65816;RH68988;RH93816 SNAP19 OTTHUMP00000164251;SNAPc 19 kDa subunit;SNAPc subunit 5;small nuclear RNA activating complex, polypeptide 5, 19kD;small nuclear RNA-activating complex polypeptide 5;snRNA-activating protein complex 19 kDa subunit;snRNA-activating protein complex subunit 5 protein-coding ENSG00000174446 HGNC:15484 16183 605979 VALIDATED 1351269 SNAPIN SNAP-associated protein The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 1 1 1 q21.3 126702324 126705505 + 153631130 153634328 + 153658654 153661852 + 1580863;6480464 10195194;11283605;12107412;12477932;12659861;12809483;12877659;14702039;15066994;15102850;15231748;15489334;15546961;15635093;15862967;16169070;16980328;17101137;17684020;17702749;18029348;18068530;18167355;18624398;19168546;19515809;20237496;20360068;21102408;21139048;21356520;21917956;21988832;22203680;22471585;22523426;22779921;22797916;22890573;23949442;24816145;25027693 23557 O95295 AA173972;ABBA01049443;AF086837;AI018675;AK024555;AL592150;AMYH02001904;BC000761;BC004494;BE278772;BI117540;BM051828;BT006753;CD671119;CH471121;NM_012437;NR_052019;NR_052020 AAD11417;AAH00761;AAH04494;AAP35399;BAB14927;CAI18797;EAW53288;EAW53289;NP_036569;O95295 Hs.32018 1658995;1850402;1852281;2141306;2182131;2182552 A007E12;Cda0cg07;D14S1187;RH12842;WI-15073;WI-17491 BLOC1S7;BLOS7 BLOC-1 subunit 7;OTTHUMP00000035157;SNAP-25-binding protein;SNAPAP;SNARE associated protein snapin;SNARE-associated protein Snapin;biogenesis of lysosomal organelles complex-1, subunit 7;biogenesis of lysosome-related organelles complex 1 subunit 7;synaptosomal-associated protein 25-binding protein APPROVED protein-coding ENSG00000143553 HGNC:17145 06111 607007 REVIEWED 2301580 SNAR-A10 small ILF3/NF90-associated RNA A10 19 19 q13.33 50626331 50626451 - 50123074 50123194 - 17855395 100170216 AC010624;EU071060;NR_024229 Hs.723094 snrna HGNC:34313 PROVISIONAL 2301586 SNAR-A11 small ILF3/NF90-associated RNA A11 19 19 q13.33 50631659 50631779 - 50128402 50128522 - 17855395 100169954 AC010624;AMYH02036340;EU071061;NR_024225 Hs.723094 snrna HGNC:34314 PROVISIONAL 2303854 SNAR-A12 small ILF3/NF90-associated RNA A12 19 19 q13.33 48410935 48411056 + 47907678 47907799 + 17855395 100126800 ABBA01041064;AC124853;AMYH02036275;EU071062;NR_004437 Hs.707967 SNAR-A53102747 snrna HGNC:34315 PROVISIONAL 2301582 SNAR-A13 small ILF3/NF90-associated RNA A13 19 19 q13.33 48448179 48448300 + 47944922 47945043 + 17855395 100169959 AC124853;AMYH02036279;EU071063;NR_024216 Hs.723093 snrna HGNC:34316 PROVISIONAL 2301594 SNAR-A14 small ILF3/NF90-associated RNA A14 19 19 q13.33 50601083 50601203 - 50097826 50097946 - 17855395 100191063 AC010624;AMYH02036335;NR_024242 Hs.723094 snrna HGNC:34338 PROVISIONAL 1319171 SNAPC4 small nuclear RNA activating complex, polypeptide 4, 190kDa ENCODES a protein that exhibits DNA binding; INVOLVED IN snRNA transcription from RNA polymerase II promoter; snRNA transcription from RNA polymerase III promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN snRNA-activating protein complex; INTERACTS WITH 17beta-estradiol; 2-methylcholine; atrazine 9 9 9 q34.3 109784965 109807827 - 139270021 139294655 - 136375569 136400208 - 6480464;8554872 11056176;11856838;12477932;12621023;14702039;15164053;15231747;15302935;15955816;17643375;17670747;20237496;20379614;20463747;20562859;21102463;21139048;21297633;21900206;22936669;24334645;7715707;8524284;9418884 6621 Q5SXM2 ABBA01022705;ABBA01022706;ABBA01022707;AF032387;AK023513;AL592301;AMYH02021900;BC013606;CH471090;CT003125;HI574188;NM_003086;XM_005266096;XM_006717241;XM_006717242;XM_006717243;XM_006717244;XR_428535 AAC02972;AAI72433;CBX47583;EAW88225;EAW88226;EAW88227;NP_003077;Q5SXM2;XP_005266153;XP_006717304;XP_006717305;XP_006717306;XP_006717307 Hs.113265 2165067 STS-H69662 FLJ13451;PTFalpha;SNAP190 OTTHUMP00000022583;PSE-binding factor subunit alpha;PTF subunit alpha;SNAPc 190 kDa subunit;SNAPc subunit 4;proximal sequence element-binding transcription factor subunit alpha;small nuclear RNA activating complex, polypeptide 4, 190kD;snRNA-activating protein complex 190 kDa subunit;snRNA-activating protein complex subunit 4 protein-coding ENSG00000165684 HGNC:11137 04146 602777 VALIDATED 2301589 SNAR-A3 small ILF3/NF90-associated RNA A3 19 19 q13.33 48427036 48427156 + 47923779 47923899 + 17855395 100169951 AC124853;AMYH02036337;EU071053;NR_024214 Hs.723094 snrna HGNC:34306 PROVISIONAL 2303857 SNAR-A2 small ILF3/NF90-associated RNA A2 19 19 q13.33 48437438 48437559 + 47934181 47934302 + 17855395 100126799 AC124853;AMYH02036279;EU071052;NR_004436 Hs.723085 SNAR-A53129250 snrna HGNC:34305 PROVISIONAL 2301584 SNAR-A4 small ILF3/NF90-associated RNA A4 19 19 q13.33 50595746 50595866 - 50092489 50092609 - 17855395 100169956 ABBA01032901;AC010624;AMYH02036335;EU071054;NR_024215 Hs.717307 snrna HGNC:34307 PROVISIONAL 2301588 SNAR-A5 small ILF3/NF90-associated RNA A5 19 19 q13.33 50604148 50604268 - 50100891 50101011 - 17855395 100169952 ABBA01032901;AC010624;AMYH02036335;EU071055;NR_024223 Hs.723094 snrna HGNC:34308 PROVISIONAL 2301583 SNAR-A6 small ILF3/NF90-associated RNA A6 19 19 q13.33 50607212 50607332 - 50103955 50104075 - 17855395 100169957 AC010624;AMYH02036335;EU071056;NR_024227 Hs.723094 snrna HGNC:34309 PROVISIONAL 2301587 SNAR-A7 small ILF3/NF90-associated RNA A7 19 19 q13.33 50610271 50610391 - 50107014 50107134 - 17855395 100169953 AC010624;AMYH02036278;EU071057;NR_024224 Hs.723094 snrna HGNC:34310 PROVISIONAL 2296068 SNAR-A8 small ILF3/NF90-associated RNA A8 19 19 q13.33 50615625 50615745 - 50112368 50112488 - 17855395 100169958 AC010624;EU071058;NR_024228 Hs.723094 snrna HGNC:34311 PROVISIONAL 2301585 SNAR-A9 small ILF3/NF90-associated RNA A9 19 19 q13.33 50620977 50621097 - 50117720 50117840 - 17855395 100169955 AC010624;EU071059;NR_024226 Hs.723094 snrna HGNC:34312 PROVISIONAL 2301574 SNAR-C1 small ILF3/NF90-associated RNA C1 19 19 19 q13.32 44138111 44138220 - 48458939 48459058 + 47955682 47955801 + 17855395 100170225 AC124853;AMYH02036279;EU071066;NR_024220 Hs.717052 snrna HGNC:34319 PROVISIONAL 2301575 SNAR-B1 small ILF3/NF90-associated RNA B1 19 19 19 q13.33 44138111 44138220 - 50637002 50637121 - 50133745 50133864 - 17855395 100170224 AC010624;AMYH02036340;EU071064;NR_024231 Hs.446545 snrna HGNC:34317 PROVISIONAL 2301578 SNAR-C2 small ILF3/NF90-associated RNA C2 19 19 19 q13.32 44138111 44138220 - 48432075 48432194 + 47928818 47928937 + 17855395 100170218 AC124853;AMYH02036335;EU071067;NR_024217 Hs.723092 snrna HGNC:34320 PROVISIONAL 2301579 SNAR-B2 small ILF3/NF90-associated RNA B2 19 19 19 q13.33 44138111 44138220 - 50642375 50642494 - 50139118 50139237 - 17855395 100170217 ABBA01033021;AC010624;AMYH02036340;EU071065;NR_024230 Hs.723095 snrna HGNC:34318 PROVISIONAL 2301573 SNAR-C3 small ILF3/NF90-associated RNA C3 19 19 19 q13.32 44138111 44138220 - 48453553 48453671 + 47950296 47950414 + 17855395 100170226 AC124853;AMYH02036279;EU071068;NR_024221 Hs.467061 snrna HGNC:34321 PROVISIONAL 2301577 SNAR-C4 small ILF3/NF90-associated RNA C4 19 19 19 q13.32 44138111 44138220 - 48442798 48442917 + 47939541 47939660 + 17855395 100170219 AC124853;AMYH02036279;EU071069;NR_024218 Hs.560634 snrna HGNC:34322 PROVISIONAL 2301572 SNAR-D small ILF3/NF90-associated RNA D 19 19 19 q13.33 47693651 47693769 - 50643459 50643577 - 50140202 50140320 - 17855395 100170227 ABBA01068344;AC010624;AMYH02036340;EU071071;NR_024243 Hs.717309 snrna HGNC:34324 PROVISIONAL 2301576 SNAR-C5 small ILF3/NF90-associated RNA C5 19 19 19 q13.32 44138111 44138220 - 48416308 48416427 + 47913051 47913170 + 17855395 100170223 AC124853;EU071070;NR_024219 Hs.717052 snrna HGNC:34323 PROVISIONAL 2301774 SNAR-E small ILF3/NF90-associated RNA E 19 19 19 q13.32 44138103 44138222 - 47333842 47333961 - 46830585 46830704 - 17855395;21444687;22120889 100170220 ABBA01040989;AC008622;AMYH02036237;EU071072;NR_024258 Hs.541243 snrna HGNC:34325 PROVISIONAL 2303859 SNAR-F small ILF3/NF90-associated RNA F 19 19 19 q13.33 48159552 48159674 + 51108220 51108342 + 50604963 50605085 + 17855395 100126781 ABBA01068310;AC008743;AMYH02036360;EU071073;NR_004384 Hs.707968 snrna HGNC:34326 PROVISIONAL 2303860 SNAR-G1 small ILF3/NF90-associated RNA G1 19 19 19 q13.33 46407486 46407613 + 49540277 49540404 + 49037020 49037147 + 17855395 100126780 ABBA01032948;AC008687;AC245081;EU071074;NR_004383 Hs.621635 snrna HGNC:34327 PROVISIONAL 2301571 SNAR-G2 small ILF3/NF90-associated RNA G2 19 19 19 q13.33 46402133 46402251 - 49534926 49535044 - 49031669 49031787 - 17855395 100170228 ABBA01032949;AC008687;AC245081;EU071075;NR_024244 Hs.717308 snrna HGNC:34328 PROVISIONAL 2303850 SNAR-H small ILF3/NF90-associated RNA H 2 2 2 p12 78010849 78010968 - 78182033 78182152 - 77954907 77955026 - 17855395 100170221 ABBA01075649;AC073628;AMYH02004116;EU071076;NR_024342 Hs.717311 snaR-2 snrna HGNC:34329 PROVISIONAL 2303849 SNAR-I small ILF3/NF90-associated RNA I 3 3 3 q28 189025885 189026005 + 190595719 190595839 + 190877930 190878050 + 17855395;23562540 100170222 ABBA01058322;AC092952;AMYH02008409;EU071077;NR_024343 Hs.717310 snaR-3 snrna HGNC:34330 PROVISIONAL 8656629 SNCA-AS1 SNCA antisense RNA 1 4 4 4 q22.1 88054192 88058875 + 90757552 90763142 + 89836401 89841991 + 11329013 644248 ABBA01063567;AC093759;AK123890;AMYH02009713;BG181213;HG497076;NG_011851;NR_045481 Hs.553954 ncrna ENSG00000247775 HGNC:50600 VALIDATED 734151 SNAP25 synaptosomal-associated protein, 25kDa Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p12-p11.2 10269471 10358052 + 10199477 10288068 + 10218694 10307418 + 1579958;2311121;6480464;8554872 12499044;12830383 10085240;10194441;10195194;10336434;10373452;10449403;10625663;10644766;10692432;10777571;10825299;10886332;10906076;10954418;11076863;11438518;11438521;11493665;11509230;11524423;11780052;11832227;11832947;11920846;12062043;12114505;12145319;12200427;12403834;12459461;12475239;12477932;12660803;12691775;12814864;12847087;12853575;14702039;14709554;15007392;15121806;15217342;15489334;15489336;15537656;15592454;15603740;15635093;15717291;15752769;15823421;16088329;16169070;16189514;16381901;16672379;16722236;16801949;16939418;17207965;17325713;17325714;17363971;17427194;17455213;17500595;17501935;17877635;17908175;18041776;18191416;18250960;18347838;18381601;18457912;18512733;18519826;18596234;18617262;18633321;18658150;18726138;18821565;18821566;18957941;19004828;19058789;19060904;19086053;19099826;19125158;19132710;19156089;19156168;19193342;19352218;19506906;19546860;19557857;19695183;19713048;19721846;19724880;19806613;19858760;19913510;20333500;20379614;20489724;20519516;20599404;20677014;20679152;20950795;21073671;21139048;21348951;21378164;21497654;21526988;21557260;21756448;21832049;21916482;21926557;21996783;22193912;22732502;22762387;22890573;22940547;23242284;23341457;23403573;23463002;23593184;23612411;23872233;23888754;24164654;24391914;24778312;7553862;7622514;7768895;7961655;8056350;8112622;8125298;8661740;8663154;8692999;8760387;8999968;9030619;9168999;9325254;9349529;9395480;9452464;9556632;9817754;9852078 6616 P60880 ABBA01053932;AK026732;AK090857;AK094560;AK098347;AK098767;AK223617;AK289647;AK314359;AL023913;AL354824;AMYH02036695;AMYH02036696;AMYH02036697;BC010647;BI552777;BI602062;BI604120;BT019684;BX647443;CH471133;D21267;L19760;L19761;NG_029626;NM_003081;NM_130811;XM_005260808;XM_005260810;XM_006723614 AAC37545;AAC37546;AAH10647;AAV38490;ADQ32436;BAA22370;BAD97337;BAF82336;BAG36991;CAL38108;CAL38529;EAX10346;EAX10347;EAX10348;EAX10349;EAX10350;EAX10351;EAX10352;EAX10353;NP_003072;NP_570824;P60880;XP_005260865;XP_005260867;XP_006723677 Hs.167317 1645433;1653565;1656631;1659650;1664057;1675273;1678969;1703408;1717983;1768987;2132282;2148989;2159714;2190931;7183683 1788;D20S763;MARC_11717-11718:1029180244:1;RH122608;RH28686;RH47511;RH64137;SHGC-12843;SHGC-68771;STS-AA017039;WI-14216;WI-18780;WI-19889;Z94685 FLJ23079;RIC-4;RIC4;SEC9;SNAP;SNAP-25;SUP;bA416N4.2;dJ1068F16.2 OTTHUMP00000030267;OTTHUMP00000030268;resistance to inhibitors of cholinesterase 4 homolog;super protein;synaptosomal-associated 25 kDa protein;synaptosomal-associated protein;synaptosomal-associated protein 25;synaptosomal-associated protein, 25kD APPROVED protein-coding ENSG00000132639 HGNC:11132 02637 600322 REVIEWED 1602003 SND1-IT1 SND1 intronic transcript 1 (non-protein coding) INTERACTS WITH copper(2+) sulfate; cyclosporin A; dioxygen 7 7 7 q31 122440968 122443537 + 127637562 127640130 + 127997509 128000077 + 6480464 12477932;12690205;14702039 27099 Q9HBX3 ABBA01057681;AC008039;AF095687;AF191492;AK024176;AMYH02016712;BC093748;BC112141;CH236947;NR_027330 AAC96312;AAG28385;BAG51268;EAL24317 Hs.657377 1649405;1663214;1778613;2145424;2220586 A008Q29;D7S2081E;D7S2823;RH46056;UniSTS:485657 C7orf54;MGC138346;NAG8;NSG-X APPROVED ncrna HGNC:24158 18483 VALIDATED 1345963 SNCG synuclein, gamma (breast cancer-specific protein 1) This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010] 10 10 10 q23.2-q23.3 82721288 82726017 + 88717504 88723017 + 86957774 86963260 + 1580863;6480095;6478704;6480098;6478802;6478792;6478801;6478795;6478696;6478797;6480100;6480195;6218971;6218958;6480464;6218960;8554872 10557341;10934140;11933054;14637093;15147505;15221989;16140929;16821081;18577885;18728752;18800064;19246516;20579003;20697047 10048491;10192768;10619569;10828462;10852916;11259122;11585599;11746666;11806835;11812782;12072430;12121974;12446933;12477932;12559990;12566312;12667059;12783249;12873981;12970872;14556204;14576821;15073123;15342556;15489334;15591046;15596044;16596223;16597821;16786148;16816827;16989287;17016652;17222866;17353931;17369845;17373700;17534899;17681534;18424589;18498014;18544996;18803290;18849443;19016751;19056867;19351749;19429025;19706805;19859996;20043104;20437261;20577925;20595634;20604972;20670935;21044950;21117662;21593311;21740810;21959308;22015044;22201822;22261620;22294286;22440249;22905097;22939629;23129765;23242284;23696021;23696593;23970348;24040069;24367999;24561123;8125298;9044857;9700196;9737786;9801372 6623 F8W754;O76070;Q6FHG5 ABBA01033689;AC025268;AF010126;AF017256;AF037207;AF044311;AF411524;AK223367;AK312141;AMYH02023488;BC014098;BP346786;CH471142;CR541788;CR541790;EU019993;NG_008783;NG_032913;NM_003087;XM_005270065;XM_005270066;XM_005270067 AAB64109;AAC27738;AAC36550;AAC36586;AAH14098;AAL05870;ABM83260;ABM83431;ABM86645;ABS18760;ABW03516;BAD97087;BAG35077;CAG46587;CAG46589;EAW80315;EAW80316;EAW80317;EAW80318;NP_003078;O76070;XP_005270122;XP_005270123;XP_005270124 Hs.349470 BCSG1;SR OTTHUMP00000020012;OTTHUMP00000020013;breast cancer-specific gene 1 protein;gamma-synuclein;persyn;synoretin APPROVED protein-coding ENSG00000173267 HGNC:11141 04297 602998 REVIEWED 1349916 SNED1 sushi, nidogen and EGF-like domains 1 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN cell-matrix adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH isotretinoin; nickel sulfate; 17alpha-ethynylestradiol (ortholog) 2 2 2 q37.3 235639389 235703345 + 241938213 242038515 + 240998793 241095563 + 737633;6480464;8554872 12477932 15162516;22266900;22675492 25992 B5MEF5;H7BYY9;H7C0D4;H7C1R9;Q8TER0 ABBA01006036;ABBA01006037;ABBA01006038;AC005237;AC093585;AC104809;AF439717;AF439718;AK074062;AK074075;AL050143;AMYH02006105;AMYH02006106;AMYH02006107;BC027939;CH471063;KF510803;KF510805;NM_001080437;XM_005246997;XM_006712405;XM_006712406;XM_006712407;XR_427081;XR_427082;XR_427083;XR_427084 AAH27939;AAQ04558;AAQ04563;BAB84888;BAB84901;EAW71233;NP_001073906;Q8TER0;XP_005247054;XP_006712468;XP_006712469;XP_006712470 Hs.471834 1661646;1671426;1689211;1716143;1847691;2109873;2113928;2133710;2134786;2141078;2144506;2149526;2151586;2159854;2179763;2184091;2185925 A002H36;AB046104;D2S1611E;D2S2890;G19468;G42004;G42005;G42006;G42007;G42008;G42009;G42010;RH121037;RH12328;RH93931;SNED1_9445;STS-Z41119 DKFZp586B2420;FLJ00133;SST3;Snep 6720455I24Rik homolog;IRE-BP1;OTTHUMP00000200552;OTTHUMP00000200553;OTTHUMP00000200554;insulin responsive sequence DNA binding protein-1;insulin-responsive sequence DNA-binding protein 1;sushi, nidogen and EGF-like domain-containing protein 1 protein-coding ENSG00000162804 HGNC:24696 PROVISIONAL 1319545 SNCAIP synuclein, alpha interacting protein This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2011] 5 5 5 q23.2 117600701 117753238 + 121647455 121799794 + 122311558 122464099 + 1580863;6480464;6907045;8554872 10319874;10967135;11331421;11427316;11590439;11742726;11784370;11956199;11958831;12044636;12364339;12423244;12477932;12695511;12750386;12761037;12915459;14506261;14627698;14639662;14645218;14702039;15064394;15105460;15322916;15603737;15728840;15894486;15944382;16049031;16096643;16169070;16174773;16365047;16595633;16877356;17327361;17467279;17549501;17982729;18029348;18292964;18335262;18366718;18635553;18782602;19224863;19730898;19762560;19857556;20089136;20301387;20301402;20379614;20604806;20816781;20849899;20890676;21103907;21344240;21590270;21890473;21900206;22321011;22388932;22828940;8889549 9627 B7Z616;B7Z995;D6R9G8;D6RBR2;D6RD29;D6REC1;D6RFL3;D6RHX3;Q6L980;Q6L981;Q6L982;Q6L983;Q9NVG1;Q9Y6H5 AB110788;AB110789;AB110790;AB110791;AB110792;AB110793;AB110794;ABBA01068955;ABBA01068956;ABBA01068957;AC022101;AC113349;AC119150;AF076929;AF167306;AK001617;AK021944;AK298882;AK299687;AK304646;AK310835;AMYH02012090;AMYH02012091;AMYH02012092;AMYH02012093;BC033743;BC040552;BC094759;BM908442;CH471086;DQ227317;KF457986;N21998;NG_011486;NM_001242935;NM_005460;XM_005272138;XM_005272139;XM_006714734;XM_006714735;XM_006714736;XM_006714737;XM_006714738 AAD30362;AAG17478;AAH33743;AAH40552;AAH94759;ABB51162;BAA91791;BAD19017;BAD19018;BAD19019;BAD19020;BAD19021;BAD19022;BAD19023;BAG51060;BAH12894;BAH13102;BAH14231;EAW48887;EAW48888;EAW48889;EAW48890;EAW48891;NP_001229864;NP_005451;Q9Y6H5;XP_005272195;XP_005272196;XP_006714797;XP_006714798;XP_006714799;XP_006714800;XP_006714801 Hs.426463 1653295;1693698;1703984;1723343;1757147;2108511;5017710 RH118488;SHGC-144579;SHGC-58617;SHGC-77767;SNCAIP;SNCAIP_7955;WI-13890 MGC39814;SYPH1;Sph1 OTTHUMP00000159162;OTTHUMP00000159163;OTTHUMP00000222988;alpha-synuclein-interacting protein;synphilin-1 APPROVED protein-coding ENSG00000064692 HGNC:11139 04804 603779 REVIEWED 733869 SNCB synuclein, beta The protein encoded by this gene is highly homologous to alpha-synuclein. These proteins are abundantly expressed in the brain and putatively inhibit phospholipase D2 selectively. The encoded protein, which may play a role in neuronal plasticity, is abundant in neurofibrillary lesions of patients with Alzheimer disease. This protein has been shown to be highly expressed in the substantia nigra of the brain, a region of neuronal degeneration in patients with Parkinson disease; however, no direct relation to Parkinson disease has been established. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q35 172442697 172464864 + 176047210 176057557 - 176620209 176630556 - 1580863;6480095;6219004;6480464;6478703;6478793;6480098;6480199;6478800;730073;6480195;6480200;6480194;7240710;8554872;8699517 10557341;10934140;11578596;12410393;12496452;12657883;14637093;15365127;15483670;17556099;21264917 10852916;11312271;11588588;11683992;11698390;11812782;12477932;12695511;12783249;12867415;15489334;15591046;16169070;16597821;16959793;17092945;17222866;17653558;17681534;17692832;18029348;18221001;18436957;19875982;19889641;20043104;20693280;20697047;20833719;20854101;20959308;21085664;21117662;21386983;21593311;21683963;21699177;22087225;22205345;23013868;23319586;23630590;7558013;8194594;9163350;9806846 6620 G4Y815;G4Y816;Q16143;Q59GT0 AB209029;ABBA01033485;ABBA01033486;AC091934;AF053134;AF053135;AF053136;AK309135;AMYH02012817;BC002902;BM543516;BM967045;BT006627;CH471195;CR457027;JF960950;JF960951;JF960952;JF960953;NG_012131;NM_001001502;NM_003085;S69965;XM_006714914;XM_006714915;XM_006714916 AAB30860;AAC80286;AAH02902;AAP35273;ABM83896;ABM87217;AEQ54756;AEQ54757;AEQ54758;AEQ54759;BAD92266;CAG33308;EAW85063;EAW85064;NP_001001502;NP_003076;Q16143;XP_006714977;XP_006714978;XP_006714979 Hs.90297 2107637;2115927;5022651 D11S2921;D5S2595;SNCB_7881 OTTHUMP00000161244;OTTHUMP00000223368;OTTHUMP00000223369;OTTHUMP00000223370;beta-synuclein APPROVED protein-coding ENSG00000074317 HGNC:11140 03980 127750;602569 REVIEWED 1603252 SNHG10 small nucleolar RNA host gene 10 (non-protein coding) This gene is small nucleolar RNA host gene 10 and represents a non-protein coding RNA. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] 14 14 14 q32.13 76054937 76056896 - 95999249 96001209 - 95532912 95534872 - 6480464 12477932;14702039;8889548 283596 ABBA01048602;AK097876;AL133467;AMYH02029798;BC036576;CA313768;CV813093;NG_021217;NG_033103;NR_001459;NR_003138 Hs.448753;Hs.745533 1685726;1685728 RH93740;RH98225 C14orf62;FLJ40557;LINC00063;NCRNA00063 ncrna HGNC:27510 REVIEWED 1603226 SNHG1 small nucleolar RNA host gene 1 (non-protein coding) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 11 11 11 q12.3 59942856 59946756 - 62619460 62623360 - 62851988 62855888 - 6480464;8554872 12477932;14702039;15231747;16344560;23801869;7985025;8559254;9387929 23642 ABBA01003246;AK095849;AMYH02024901;AP001160;BC000839;BC011809;BC017253;BC027980;BC063571;DA856235;L36587;L36588;NR_003098;U40580 Hs.655643 1792336;2132004;2185573 AF081279;D11S4685;PMC14794P1 LINC00057;NCRNA00057;U22HG;UHG ncrna ENSG00000255717 HGNC:32688 603222 PROVISIONAL 1604833 SNF8 SNF8, ESCRT-II complex subunit SNF8, VPS25 (MIM 610907), and VPS36 (MIM 610903) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. SNF8, VPS25, and VPS36 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM, Mar 2008] 17 17 17 q21.32 43461656 43476351 - 47007458 47022484 - 48930096 48944792 - 4892619;6480464;6907045 19535733 10419521;11031247;11278625;12477932;14505570;14519844;15218037;15329733;15489334;15755741;16189514;16371348;16973552;17010938;17207965;17714434;18539118;19056867;19819239;21139048;21378990;21890473;21906983;21963094;21987572;21988832;22505724;22863883;22939629;22978549;23000965;23171048;23305486;23455924;24816145 11267 D6RBI1;D6RFY6;D6RJ86;H0Y8S5;I3L2X5;I3L457;K7EPV2;Q96H20 ABBA01041183;AC091133;AF156102;AMYH02033552;BC008976;BC038830;CH471109;NM_007241 AAD46560;AAH08976;AAH38830;ADQ31826;EAW94698;EAW94699;EAW94700;NP_009172;Q96H20 Hs.127249 1341843;2108043 D17S1827;EAP30_9250 Dot3;EAP30;VPS22;hVps22 EAP30 subunit of ELL complex;ELL-associated protein of 30 kDa;ESCRT-II complex subunit VPS22;OTTHUMP00000218490;OTTHUMP00000218491;SNF8, ESCRT-II complex subunit, homolog;vacuolar-sorting protein SNF8 APPROVED protein-coding HGNC:17028 16847 610904 PROVISIONAL 1601936 SNHG11 small nucleolar RNA host gene 11 (non-protein coding) This gene is a member of the non-protein-coding multiple snoRNA host gene family. Two snoRNAs are derived from the introns of this host gene. Although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 33784102 33788368 + 37075297 37079564 + 38446654 38450921 + 6480464 11181995;12477932;14702039;20532202 128439 ABBA01052525;AK055434;AL049868;AMYH02037061;BC040237;CH471077;NR_003239 Hs.16936 1693428;2149506 AL034527;WI-14331 C20orf198;LINC00101;NCRNA00101 APPROVED ncrna ENSG00000174365 HGNC:25046 11814 VALIDATED 1605604 SNHG12 small nucleolar RNA host gene 12 (non-protein coding) INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 3,4-dichloroaniline 1 1 1 p35.3 27300816 27304132 - 28905050 28908366 - 28578538 28581854 - 6480464 12477932;14702039;16710414 85028 Q9BXW3 ABBA01035043;AF277181;AK092096;AL513497;AMYH02000632;AY277594;BC022205;BC045792;BC064589;BC068048;CH471059;HG491821;HG491822;HG491824;HG491827;HG491829;HG491831;NR_024127 AAK07540;AAQ18033;EAX07686;Q9BXW3 Hs.632377 1779132;2128422 RH77841;SHGC-74498 C1orf79;LINC00100;NCRNA00100;RP4-669K10.5 ncrna ENSG00000197989 HGNC:30062 PREDICTED 1601702 SNHG15 small nucleolar RNA host gene 15 (non-protein coding) INTERACTS WITH 17beta-estradiol; 5-fluorouracil; all-trans-retinoic acid 7 7 7 p13 45121376 45125025 - 45022627 45026259 - 44983028 44986660 - 6480464 12477932;12690205;14702039;24036268 285958 ABBA01058244;AC004847;AK096179;AMYH02015634;BC092459;HG500231;HG500232;HG500233;HG500234;HG500235;HG500236;HG500238;NR_003697 Hs.25892 1778548 STS-R52131 C7orf40;FLJ38860;Linc-Myo1g;MYO1GUN;MYO1GUT APPROVED ncrna ENSG00000232956 HGNC:27797 PROVISIONAL 7244404 SNHG17 small nucleolar RNA host gene 17 (non-protein coding) 20 20 20 q11.23 33758039 33772822 - 37049239 37064018 - 38420592 38435375 - 12477932;14702039;16341674;16344560;8889548 388796 ABBA01052524;ABBA01052525;AK022745;AL080249;AL391095;AMYH02037061;BC012894;BC032119;BC052370;BM714185;BM796603;BX640887;DA687932;NR_015366;NR_027241 Hs.400876 1338575;2148238;5014023;5015879;5016478;5020946;5022578;5022651 D11S2921;D13S1553;D1S1423;D20S881;GDB:314949;GDB:434012;L17971;WI-17688 ncrna ENSG00000196756 HGNC:48600 PREDICTED 7248517 SNHG18 small nucleolar RNA host gene 18 (non-protein coding) 5 5 9546312 9550410 + 9546200 9550298 + 16341674;16344560;8889548 100505806 ABBA01020592;AC034214;AMYH02010840;BM676492;BM796927;DA542304;HG497747;HG497748;NR_045196 Hs.34447 ncrna ENSG00000250786 HGNC:49007 VALIDATED 2304147 SNHG20 small nucleolar RNA host gene 20 (non-protein coding) INTERACTS WITH exemestane; quercetin 17 17 17 q25.2 71679509 71685850 + 75084725 75091068 + 77088643 77094986 + 6480464 16344560;16373490 654434 ABBA01028720;AC015815;AF130050;AK098448;AMYH02034028;BX648413;DA068554;DA916381;FN357117;FN357118;FN357121;FN357125;NR_027058 AAG35478;CAY10351;CAY10352;CAY10355;CAY10359 Hs.720923 C17orf86;DKFZp686L05235;FLJ25582;LINC00338;NCRNA00338;PRO0872;SCARNA16HG APPROVED ncrna ENSG00000234912 HGNC:33099 VALIDATED 8551316 SNHG22 small nucleolar RNA host gene 22 (non-protein coding) q21.1 14702039 103091864 AC092705;AK123464;NR_117096 Hs.646459 SCARNA17HG ncrna HGNC:50285 VALIDATED 8549937 SNHG21 small nucleolar RNA host gene 21 (non-protein coding) 15 15 15 61154674 61161314 - 83419316 83425958 + 82750564 82757206 + 16344560;8889548;8889549 100505616 AA284521;ABBA01029428;AC105339;AMYH02030914;BX112407;CF129490;CK904397;DA396616;DA514642;DB154257;HG507333;HG507334;HG507335;NR_110096;NR_110097;NR_110098;NR_110099;NR_110100 Hs.513091;Hs.733986 FSD2-AS1;SCARNA15HG ncrna ENSG00000250988 HGNC:50284 VALIDATED 8663212 SNHG24 small nucleolar RNA host gene 24 (non-protein coding) 14 14 q32.31 101448847 101450770 + 100967652 100986650 + 16344560 101929369 AA451995;ABBA01048514;AL132709;AMYH02029866;DA845870;HG506628;NR_110178 Hs.118101;Hs.712211 ncrna HGNC:50825 VALIDATED 733231 SND1 staphylococcal nuclease and tudor domain containing 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN osteoblast differentiation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; membrane; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; cyclosporin A 7 7 7 q31.3 122095937 122536062 + 127292043 127732659 + 127652148 128092607 + 6480464;8554872 10644367;11124528;11259168;11691653;12234934;12477932;12819296;12917451;14702039;15489334;15592455;15627504;15695802;16051665;16210410;16914450;17081065;17081983;17353931;17576664;17632523;17909068;18029348;18453631;18781797;19435788;19471022;19596686;19615732;19738201;19913121;20020773;20211142;20225206;20379614;20442744;20484005;20562859;20628086;20643132;20877624;21139048;21145461;21148275;21252943;21319273;21478147;21832049;21890473;21906983;21936566;21963094;21987572;21988832;22053931;22113938;22379092;22396537;22505724;22586326;22623428;22745804;22797925;22863883;22939629;22944692;23000965;23065261;23160072;23532257;23770094;23862649;23878061;23995791;24155205;24515614;24583282;24778252;24815690;24816145;24981741;25015289;25027693;7651391;8756344;9003410;9809063;9874765 27044 H7C597;Q7KZF4 AB209510;ABBA01057678;ABBA01057679;ABBA01057680;ABBA01057681;ABBA01057682;ABBA01057683;ABBA01057684;AC006529;AC008039;AC009181;AC073934;AK096583;AK304181;AK309014;AK312313;AMYH02016709;AMYH02016710;AMYH02016711;AMYH02016712;AMYH02016713;AY273894;BC017180;BC020423;BE799345;BM149154;BQ217773;BT009785;CH236947;CH471070;KF510971;KF510972;NM_014390;U22055 AAA80488;AAH17180;AAP31683;AAP88787;ABM84558;ABM86455;BAD92747;BAG35238;BAG53329;BAG65061;EAW83635;EAW83636;EAW83637;NP_055205;Q7KZF4 Hs.122523 1336159;1338812;1644033;1645994;1649405;1651485;1652578;1654424;1658249;1663214;1693494;1715365;1717639;1727851;1747613;1767029;1769786;1778613;1789134;2123944;2124182;2138862;2141097;2145424;2147338;2148416;2165990;2171253;2176737;2176854;2187050;2218042;2220586;5111251;7185049;7186531;7186925 A008Q29;A009A30;C016YC9;D7S2081E;D7S2389;D7S2501;D7S2823;D7S2940;D7S2943;D7S504;G17149;G63341;G65517;G65703;GDB:1318687;GDB:4585141;GDB:4585650;RH120514;RH122124;RH12231;RH18311;RH46056;RH47193;RH47485;SHGC-152675;SHGC-31025;SHGC-35064;SHGC-58325;SND1_3572;STS-H23117;STS-T91284;UniSTS:485657;WI-14761;WI-15275 TDRD11;p100 100 kDa coactivator;EBNA-2 co-activator (100kD);EBNA2 coactivator p100;OTTHUMP00000212277;SND1-BRAF fusion;Tudor-SN;p100 EBNA2 co-activator;p100 co-activator;p105 coactivator;staphylococcal nuclease domain containing 1;staphylococcal nuclease domain-containing protein 1;tudor domain-containing protein 11 protein-coding ENSG00000197157 HGNC:30646 03714 602181 VALIDATED 1642405 SNHG3-RCC1 SNHG3-RCC1 readthrough transcript 1 1 p36.1 27228273 27261373 + 28832496 28865607 + 12477932;3678831 751867 AL513497;BF590413;BF667678;BU501614;BU622451;BX109495;CB985055;NM_001048197;NM_001048198;NM_001048199;NR_030725;NR_030726 NP_001041662;NP_001041663;NP_001041664 Hs.469723;Hs.723831 OTTHUMP00000003775;OTTHUMP00000211004;OTTHUMP00000211006;OTTHUMP00000211007;OTTHUMP00000211009;regulator of chromosome condensation 1 protein-coding 1350602 SNHG3 small nucleolar RNA host gene 3 (non-protein coding) INTERACTS WITH benzo[a]pyrene diol epoxide I; ethyl methanesulfonate; formaldehyde 1 1 1 p36.1 27228232 27233181 + 28832455 28837404 + 28505943 28510892 + 6480464 12477932;14702039;16344560;9671460 8420 ABBA01035034;AF075052;AJ006834;AJ006835;AK092726;AK311577;AL513497;AMYH02000629;BC006790;BC012122;BC017334;BC065008;DA044266;DA135739;LK938580;NR_002909;NR_036473 Hs.469723 1767391;1854138;2133826;2133828;5020946;5024413;5037552;5093636;5126835 A009U10;D8S2279;G32835;L17877;L17971;PMC14794P2;RH68391;SHGC-32496;SHGC-74505 FLJ18619;NCRNA00014;RNU17C;RNU17D;U17HG;U17HG-A;U17HG-AB rna, u17d small nucleolar;small nucleolar RNA host gene (non-protein coding) 3 ncrna ENSG00000242125 HGNC:10118 603238 VALIDATED 8178989 SNHG19 small nucleolar RNA host gene 19 (non-protein coding) 16 16 16 2419222 2419778 - 2204803 2205377 - 2154802 2155375 - 100507303 ABBA01030271;AC009065;AMYH02031245;XR_109242;XR_111621;XR_172115 SNORD60HG ncrna ENSG00000260260 HGNC:49574 MODEL 1603325 SNHG4 small nucleolar RNA host gene 4 (non-protein coding) INTERACTS WITH 17beta-estradiol; ethyl methanesulfonate; formaldehyde 5 5 5 q31.2 134731161 134740599 + 138609441 138618873 + 139273752 139283184 + 6480464 15146197;16344560;19240791;8657112;9630250 724102 ABBA01068644;AC011404;AJ224167;AJ224168;AJ224170;AMYH02012314;AMYH02012315;CN337312;DA203569;DB192707;NG_012846;NR_003141;NR_036536 Hs.268939 1780630;5022578 D1S1423;bac51452T NCRNA00059;U19H ncrna HGNC:32964 VALIDATED 1602236 SNHG6 small nucleolar RNA host gene 6 (non-protein coding) INTERACTS WITH 17beta-estradiol; cyclosporin A; methyl methanesulfonate 8 8 8 q13 63827659 63831271 - 67834165 67837778 - 66921930 66925542 - 6480464 16226852 641638 ABBA01041882;AC011031;AMYH02018117;AY264285;NR_002599 Hs.372680 1653537;1735750;2161197 D8S1363E;RH47443;STS-AA035428 HBII-276HG;NCRNA00058;U87HG ncrna HGNC:32965 612215 PROVISIONAL 1349550 SNHG5 small nucleolar RNA host gene 5 (non-protein coding) This gene is a member of both the non-protein-coding multiple snoRNA host gene family and the 5'-terminal oligopyrimidine (5' TOP) class of genes. Two snoRNAs are derived from the introns of this host gene but, although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. The gene is located at the chromosomal translocation breakpoint involved in B-cell lymphoma. [provided by RefSeq, Jul 2008] 6 6 6 q14.3 86813919 86815645 - 86386725 86388451 - 85677007 85678733 - 6480464 10792466;12477932 387066 AB017710;ABBA01040478;AL355615;AMYH02014038;BC009220;BC108291;CD384894;CD388674;NR_003038 Hs.292457 1659002;1857426;1858337;2142996;2176557 RH41933;RH46859;SHGC-33135;SHGC-58311;WI-13410 C6orf160;LINC00044;MGC16362;NCRNA00044;U50HG;bA33E24.2 APPROVED ncrna ENSG00000203875 HGNC:21026 613263 VALIDATED 1602847 SNHG7 small nucleolar RNA host gene 7 (non-protein coding) INTERACTS WITH (-)-demecolcine; 17beta-estradiol; aflatoxin B1 9 9 9 q34.3 110132169 110135754 - 139619046 139622636 - 136724594 136728184 - 6480464 12477932;14702039 84973 ABBA01022719;AK090585;AL355987;AMYH02021909;BC007651;BC042369;BC042667;BC055011;BC059956;BC061888;HG502548;HG502549;NR_003672;NR_024542;NR_024543 Hs.495480 1748479;2155466;5015961;5037552;5109281 D15S1477;D1S1425;D8S2279;RH73;SHGC-32749 MGC16037;NCRNA00061 ncrna ENSG00000233016 HGNC:28254 VALIDATED 1625827 SNHG8 small nucleolar RNA host gene 8 (non-protein coding) INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; crotonaldehyde 4 4 4 q26 116491041 116492102 + 119199917 119200978 + 118278762 118279823 + 6480464 12477932;15199136;16341674;8889548 100093630 ABBA01063873;AC096762;AMYH02009984;BC017993;BC039555;BM845860;CD520851;CF124302;HG497197;HG497198;HG497199;HG497200;NG_023350;NR_003584;NR_034010;NR_034011 Hs.535762 2144618;5020479 SHGC-59624;SHGC-59631 LINC00060;NCRNA00060 ncrna ENSG00000269893 HGNC:33098 VALIDATED 1604665 SNHG9 small nucleolar RNA host gene 9 (non-protein coding) INTERACTS WITH aflatoxin B1; ethyl methanesulfonate 16 16 16 p13.3 2227179 2227687 + 2014997 2015505 + 1964996 1965504 + 6480464 735301 ABBA01030285;AC005363;AMYH02031241;CR749453;NR_003142 Hs.115329 1712348 G54162 DKFZp686N06141;NCRNA00062 ncrna ENSG00000255198 HGNC:33102 PROVISIONAL 1605941 SNIP1 Smad nuclear interacting protein 1 This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012] 1 1 1 p34.3 36280132 36297891 - 38000050 38019945 - 37534449 37554344 - 6480464;8699517;7240710;8554872 10887155;11567019;12097147;12477932;14702039;15231748;15342556;15378006;15489334;15750622;16189514;17081983;17157259;17207965;17260016;18029348;18632581;18794151;19471022;21167768;21693764;22020748;22094256;22279524;22365833;23000965;23932364;24144296;24654937 79753 B1AK66;Q8TAD8 ABBA01023274;ABBA01023275;AK022615;AK027622;AK293229;AK297176;AK300796;AK315574;AL034379;AMYH02000797;AMYH02000798;AY081909;BC027040;BP364813;CH471059;CX759814;KF495920;NG_032170;NM_024700 AAH27040;AAL91140;ADQ31741;BAB14134;BAB55241;BAG37948;BAG56768;BAG59668;BAG62455;EAX07338;NP_078976;Q8TAD8 Hs.47232 1692328;2147274;2154647;2156929;5015961;5022578;5037552 AL009981;AL033821;D15S1477;D1S1423;D8S2279;SHGC-74619;SHGC-74624 FLJ12553;PMRED;RP3-423B22.3;dJ423B22.2 FHA domain-containing protein SNIP1;OTTHUMP00000004404;Smad nuclear interacting protein (SNIP1);smad nuclear-interacting protein 1 APPROVED protein-coding ENSG00000163877 HGNC:30587 06999 608241;614501 REVIEWED 1602252 SNORA10 small nucleolar RNA, H/ACA box 10 16 16 16 p13.3 2224517 2224649 - 2012335 2012467 - 1962334 1962466 - 15199136;16381836;19446021 574042 ABBA01030285;AC005363;AJ609432;AMYH02031241;NR_002327 Hs.679928 1649282;1712348 G54162;RP_S2_1 ACA10 snorna HGNC:32598 PROVISIONAL 6893175 SNHG16 small nucleolar RNA host gene 16 (non-protein coding) 17 17 17 71146185 71153754 + 74553846 74561430 + 76557764 76565348 + 12477932;19287950;21147498;24519959 100507246 AB447886;ABBA01028738;AC015802;AMYH02034015;BC042949;BC100293;BX647993;NR_038108;NR_038109;NR_038110;NR_038111 Hs.288215 1698056;1744361;2190371;5015404;5020946;5022588 D17S2244;D5S1597E;GDB:451818;L17705;L17971;RH102560 ncRAN ncrna ENSG00000163597 HGNC:44352 VALIDATED 1642098 SNORA11B small nucleolar RNA, H/ACA box 11B INTERACTS WITH zinc atom; zinc(0) 14 14 14 q32.12 71641217 71641343 + 91592770 91592896 + 91126426 91126552 + 6480464 16990247;19446021 100124539 ABBA01030487;AL121784;AMYH02029738;NR_003709 Hs.693444 APPROVED snorna ENSG00000221102 HGNC:33620 VALIDATED 8657203 SNHG23 small nucleolar RNA host gene 23 (non-protein coding) 14 14 101402029 101425527 + 100910281 100959190 + 100507242 ABBA01048514;AL117190;AL132709;AMYH02029865;AMYH02029866;BX508291;HG506617;HG506618;HG506619;HG506621;HG506622;HG506623;XR_172063;XR_253305;XR_253306;XR_253307;XR_424542;XR_424543;XR_424544;XR_424545;XR_424546;XR_424547;XR_424548;XR_424549;XR_424550;XR_424551;XR_424552;XR_424553;XR_424554;XR_429406;XR_429407;XR_429408;XR_429409;XR_429410;XR_429411;XR_429412;XR_429413;XR_429414;XR_433027;XR_433028;XR_433029;XR_433030;XR_433031 Hs.709410 ncrna HGNC:50622 MODEL 1642097 SNORA11C small nucleolar RNA, H/ACA box 11C X X X p11.3 51443307 51443433 + 47248049 47248175 + 47388650 47388776 + 16990247;19446021 100124540 ABBA01052348;AL591503;AMYH02039280;NR_003710 Hs.693443 APPROVED snorna HGNC:33621 VALIDATED 1642096 SNORA11D small nucleolar RNA, H/ACA box 11D X X X p11.22 55921742 55921868 + 51933718 51933844 + 52190622 52190748 + 16990247;19446021 100124541 ABBA01059939;AC245177;AL928717;NR_003711 Hs.709779 FLJ39060 snorna HGNC:33622 VALIDATED 1642113 SNORA11E small nucleolar RNA, H/ACA box 11E X X X p11.22 55921742 55921868 - 51806443 51806569 - 52063347 52063473 - 16990247;19446021 101340250 AC239585;BX537154;NR_102368 snorna HGNC:33623 VALIDATED 1602758 SNORA1 small nucleolar RNA, H/ACA box 1 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 11 11 11 q21 90756622 90756751 - 93465170 93465299 - 93732004 93732133 - 6480464 15199136;16381836;19446021 677792 ABBA01040043;AJ609425;AMYH02025366;AP001273;NR_003026 Hs.689724 2147584 D11S4684 ACA1 snorna ENSG00000206834 HGNC:32557 PROVISIONAL 1602751 SNORA11 small nucleolar RNA, H/ACA box 11 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA11, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] X X X p11.21 58673363 58673493 + 54840803 54840933 + 54814370 54814500 + 16361266;16381836;19446021 677799 ABBA01069586;AM055729;AMYH02039494;NG_012844;NR_002953;Z98046 Hs.679783 1682181 RH64607 SNORA11A;U107 APPROVED snorna HGNC:32599 300662 VALIDATED 1602596 SNORA12 small nucleolar RNA, H/ACA box 12 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA12, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 10 10 10 q24.31 95734870 95735016 - 101996913 101997059 - 100237156 100237302 - 16361266;16381836;19446021;21103663 677800 ABBA01063229;AL138921;AM055730;AMYH02023650;NR_002954 Hs.662165 U108 APPROVED snorna HGNC:32600 611330 PROVISIONAL 1602777 SNORA13 small nucleolar RNA, H/ACA box 13 5 5 5 q22.2 107442901 107443033 + 111497182 111497314 + 112161485 112161617 + 15199136;16381836;19446021;3342024 654322 ABBA01069062;AC010261;AJ609455;AMYH02011972;NR_002922 Hs.689709 ACA13 snorna ENSG00000238363 HGNC:32601 PROVISIONAL 736222 SNN stannin FOUND IN integral component of membrane (inferred); mitochondrial outer membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 16 16 16 p13 11936631 11947357 + 11762289 11773015 + 11668433 11679159 + 1580863;6480464 10233894;11076863;11230166;12477932;15345747;15489334;15489336;1635553;16381901;19305408;23824909;9413842;9657854 8303 O75324 ABBA01006829;ABBA01006830;AC007613;AF030196;AF070673;AK025795;AL161976;AL538273;AMYH02031477;AY325800;BC005837;BC036100;BC036443;BQ019000;CH471112;CR542127;CR542138;CR984360;NM_003498 AAC28427;AAC83231;AAH36100;AAH36443;AAP78484;ABM81710;ABM84866;CAB82314;CAG46924;CAG46935;CAL37610;EAW85146;EAW85147;NP_003489;O75324 Hs.618526 1683455;1703250;1737549;1772977;2173599 D16S2658;D16S2934E;RH93664;SGC32077;SHGC-24019 AG8_1 OTTHUMP00000115637 protein-coding ENSG00000184602 HGNC:11149 04327 603032 VALIDATED 1602595 SNORA14A small nucleolar RNA, H/ACA box 14A Small nucleolar RNAs (snoRNAs) are 60-150 nt long non-coding RNAs, and include two groups: C/D box snoRNAs and H/ACA box snoRNAs. The C/D box snoRNAs are guides for the 2'-O-ribose methylation of rRNAs or snRNAs. The H/ACA box snoRNAs are guides for the isomerization of uridine residues into pseudouridine. This gene belongs to the group of the H/ACA box snoRNAs, and functions in 18S rRNA pseudouridylation at position U966. The gene duplication generates a 91% identical copy on chromosome 1. [provided by RefSeq, Oct 2008] 7 7 7 q11.23 70441647 70441780 + 75573101 75573234 + 75943783 75943916 + 15199136;16381836;19446021 677801 ABBA01005894;AC005067;AJ609456;AMYH02016074;NG_008930;NR_002955 Hs.689708 ACA14a APPROVED snorna ENSG00000201643 HGNC:32602 REVIEWED 1602594 SNORA14B small nucleolar RNA, H/ACA box 14B Small nucleolar RNAs (snoRNAs) are 60-150 nt long non-coding RNAs, and include two groups: C/D box snoRNAs and H/ACA box snoRNAs. The C/D box snoRNAs are guides for the 2'-O-ribose methylation of rRNAs or snRNAs. The H/ACA box snoRNAs are guides for the isomerization of uridine residues into pseudouridine. This gene belongs to the group of the H/ACA box snoRNAs, and functions in 18S rRNA pseudouridylation at position U966. The gene duplication generates a 91% identical copy on chromosome 7. [provided by RefSeq, Oct 2008] 1 1 1 q42.3 208533753 208533887 - 235291118 235291252 - 235127803 235127937 - 6480464 15199136;16381836;19446021 677802 ABBA01033118;AJ609457;AL732292;AMYH02002938;NR_002956 Hs.744743 ACA14b APPROVED snorna HGNC:32603 REVIEWED 1602593 SNORA15 small nucleolar RNA, H/ACA box 15 7 7 7 p11.2 67181565 67181697 + 56128163 56128295 + 56060470 56060602 + 15199136;16381836;19446021 677803 ABBA01061849;AC092101;AJ609458;AMYH02015749;NR_002957 Hs.689706 ACA15 snorna HGNC:32604 PROVISIONAL 1602745 SNORA16A small nucleolar RNA, H/ACA box 16A 1 1 1 p35.3 27303198 27303331 - 28907432 28907565 - 28580920 28581053 - 15199136;16381836;19446021 692073 ABBA01035043;AJ609433;AL513497;AMYH02000632;NR_003035 Hs.632377 1779132;2128422 RH77841;SHGC-74498 ACA16 snorna ENSG00000274582 HGNC:32605 PROVISIONAL 1602536 SNORA16B small nucleolar RNA, H/ACA box 16B 1 1 1 q32.3 185751784 185751916 + 212526160 212526292 + 212352818 212352950 + 14602913;16381836;19446021 692157 ABBA01048179;AL360091;AMYH02002641;AY349599;NR_004389 Hs.707958 U98b snorna HGNC:32606 PROVISIONAL 1602590 SNORA20 small nucleolar RNA, H/ACA box 20 6 6 6 q25.3 160847359 160847490 - 160201282 160201413 - 159780250 159780381 - 15199136;16381836;19446021 677806 ABBA01021060;AJ609459;AL135914;AMYH02014873;NG_023389;NR_002960 Hs.689705 5117186 GDB:451649 ACA20 snorna HGNC:32610 VALIDATED 1602592 SNORA17 small nucleolar RNA, H/ACA box 17 9 9 9 q34.3 110134317 110134449 - 139621199 139621331 - 136726747 136726879 - 15199136;16381836;19446021 677804 ABBA01022719;AJ609434;AL355987;AMYH02021909;NR_002958 Hs.495480 ACA17 snorna ENSG00000274998 HGNC:32607 PROVISIONAL 1602603 SNORA19 small nucleolar RNA, H/ACA box 19 10 10 10 q26 114550166 114550293 - 120819523 120819650 - 119060011 119060138 - 6480464 15199136;16381836;19446021;9047361 641451 ABBA01062921;AJ609435;AL355598;AMYH02023899;NR_002917 Hs.688653 ACA19 snorna HGNC:32609 PROVISIONAL 1602589 SNORA22 small nucleolar RNA, H/ACA box 22 7 7 7 q11.21 58335933 58336066 + 65220513 65220646 + 65755526 65755659 + 15199136;16381836;19446021 677807 ABBA01049024;AC073107;AJ609437;AMYH02015893;NR_002961 Hs.675336 ACA22 snorna ENSG00000206634 HGNC:32612 PROVISIONAL 1602591 SNORA18 small nucleolar RNA, H/ACA box 18 ASSOCIATED WITH Melanoma (inferred) 11 11 11 q21 90758084 90758215 - 93466632 93466763 - 93733466 93733597 - 8554872 15199136;16381836;19446021 677805 ABBA01040043;AJ609471;AMYH02025366;AP001273;NR_002959 Hs.732267 2147584 D11S4684 ACA18 snorna ENSG00000207145 HGNC:32608 PROVISIONAL 1602588 SNORA23 small nucleolar RNA, H/ACA box 23 11 11 11 p15.4 9572017 9572205 + 9450313 9450501 + 9428766 9428954 + 15199136;16381836;19446021 677808 ABBA01061181;AC132192;AJ609438;AMYH02024316;NR_002962 Hs.689720 ACA23 snorna HGNC:32613 PROVISIONAL 1602246 SNORA21 small nucleolar RNA, H/ACA box 21 INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 17 17 17 q12 33670085 33670217 - 37009116 37009248 - 38852863 38852995 - 6480464 14702039;15199136;16381836;19446021;9047361 619505 ABBA01031895;AC110749;AJ609436;AK095288;AMYH02033366;NR_002576 Hs.738742 ACA21 snorna HGNC:32611 PROVISIONAL 1602587 SNORA24 small nucleolar RNA, H/ACA box 24 INTERACTS WITH coumestrol 4 4 4 q26 116491469 116491599 + 119200345 119200475 + 118279190 118279320 + 6480464 15199136;16381836;19446021 677809 ABBA01063873;AC096762;AJ609460;AMYH02009984;NG_023350;NR_002963 Hs.744742 ACA24 snorna ENSG00000275994 HGNC:32614 VALIDATED 1601779 SNORA25 small nucleolar RNA, H/ACA box 25 INTERACTS WITH cyclosporin A; quercetin 11 11 11 q21 90755131 90755264 - 93463679 93463812 - 93730513 93730646 - 6480464 15199136;16381836;19446021 684959 ABBA01040043;AJ609461;AMYH02025366;AP001273;NR_003028 Hs.738736 1675686 RH35 ACA25 snorna ENSG00000207112 HGNC:32615 PROVISIONAL 1602586 SNORA26 small nucleolar RNA, H/ACA box 26 4 4 4 q12 51075982 51076103 + 53579416 53579537 + 52713249 52713370 + 11387227;16381836;19446021 677810 ABBA01003380;AC104066;AMYH02009209;NR_003016 Hs.635034 HBI-6 snorna ENSG00000212588 HGNC:32616 614626 PROVISIONAL 1602377 SNORA27 small nucleolar RNA, H/ACA box 27 13 13 13 q12.2 8898411 8898536 + 27829538 27829663 + 27255401 27255526 + 15199136;16381836;19446021;9047361 619499 AB061826;ABBA01035750;AJ609439;AL159977;AMYH02027748;NR_002575 Hs.689719 ACA27 snorna HGNC:32617 PROVISIONAL 1602585 SNORA28 small nucleolar RNA, H/ACA box 28 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 3,3',5-triiodo-L-thyronine; benzo[a]pyrene diol epoxide I 14 14 14 q32.32 83858363 83858488 + 103804186 103804311 + 103337849 103337974 + 6480464;8554872 15199136;16381836;19446021 677811 ABBA01048430;AJ609462;AL138976;AMYH02029922;NR_002964 Hs.658237 ACA28 snorna HGNC:32618 PROVISIONAL 1602584 SNORA29 small nucleolar RNA, H/ACA box 29 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 6 6 6 q25.3 160852710 160852849 - 160206626 160206765 - 159785594 159785733 - 6480464 15199136;16381836;19446021 677812 ABBA01021060;AJ609472;AL135914;AMYH02014873;NR_002965 Hs.363137 ACA29 snorna HGNC:32619 PROVISIONAL 1602249 SNORA33 small nucleolar RNA, H/ACA box 33 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 6 6 6 q23.2 133885185 133885317 + 133138358 133138490 + 132817219 132817351 + 6480464 14702039;15199136;16381836;19446021 594839 ABBA01025876;AJ609473;AK096147;AL137783;AMYH02014503;NR_002436 Hs.671378 2135319;2143394;5124225;7186901 D6S989;RH47548;RH80451 ACA33 snorna HGNC:32623 PROVISIONAL 1602747 SNORA32 small nucleolar RNA, H/ACA box 32 11 11 11 q21 90755597 90755717 - 93464145 93464265 - 93730979 93731099 - 15199136;16381836;19446021 692063 ABBA01040043;AJ609442;AMYH02025366;AP001273;NR_003032 Hs.738740 ACA32 snorna ENSG00000206799 HGNC:32622 PROVISIONAL 1602582 SNORA31 small nucleolar RNA, H/ACA box 31 13 13 13 q14.13 26967743 26967872 - 45911615 45911744 - 45337480 45337609 - 15199136;16381836;19446021 677814 ABBA01021208;AJ609441;AL138963;AMYH02027969;NR_002967 Hs.374596 1647492;1681664;5038551 G26329;RH41035;RH68285 ACA31 snorna HGNC:32621 PROVISIONAL 1602757 SNORA2A small nucleolar RNA, H/ACA box 2A INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 12 12 12 q13.11 47846415 47846549 - 49050431 49050565 - 48656648 48656782 - 6480464 15199136;16381836;19446021 677793 ABBA01031482;AC079951;AJ609426;AMYH02026424;NR_002950 Hs.689723 ACA2A snorna HGNC:32584 PROVISIONAL 1602756 SNORA2B small nucleolar RNA, H/ACA box 2B 12 12 12 q13.11 47857223 47857359 - 49061240 49061376 - 48667457 48667593 - 15199136;16381836;19446021 677794 ABBA01031482;AC079951;AJ609427;AMYH02026425;NR_002951 Hs.683444 ACA2b snorna HGNC:32585 PROVISIONAL 1602583 SNORA30 small nucleolar RNA, H/ACA box 30 ASSOCIATED WITH Melanoma (inferred) 16 16 16 p11.2 29575563 29575691 - 30721858 30721986 + 30710537 30710665 + 8554872 15199136;16381836;19446021 677813 ABBA01042055;AC106886;AJ609440;AMYH02031829;NG_032135;NR_002966 Hs.689718 ACA30 snorna HGNC:32620 VALIDATED 1602578 SNORA36B small nucleolar RNA, H/ACA box 36B 1 1 1 q41 193593099 193593229 - 220373888 220374018 - 220200546 220200676 - 15199136;16381836;19446021 677818 ABBA01048081;AL445435;AMYH02002730;NG_015837;NR_002994 Hs.730572 ACA36b snorna HGNC:32629 VALIDATED 1642102 SNORA36C small nucleolar RNA, H/ACA box 36C ASSOCIATED WITH Melanoma (inferred) 2 2 2 p14 69597783 69597910 - 69747176 69747303 - 69520044 69520171 - 8554872 16990247;19446021 100124535 ABBA01075506;AC079121;AMYH02004022;NR_003705 Hs.693447 APPROVED snorna HGNC:33616 PROVISIONAL 1602581 SNORA34 small nucleolar RNA, H/ACA box 34 12 12 12 q13.11 47844149 47844285 - 49048165 49048301 - 48654382 48654518 - 15199136;16381836;19446021;19763159;22751105 677815 ABBA01031482;AC079951;AJ609443;AMYH02026424;NR_002968 Hs.689717 ACA34;MIR1291 snorna HGNC:32624 615487 PROVISIONAL 1602580 SNORA35 small nucleolar RNA, H/ACA box 35 INTERACTS WITH paracetamol X X X q23 114300443 114300570 + 113865259 113865386 + 114630797 114630924 + 6480464 15199136;16381836;19446021 677816 ABBA01053591;AC007025;AC233299;AMYH02040268;NR_002993 Hs.693123 HBI-36 snorna ENSG00000208839 HGNC:32625 PROVISIONAL 1602577 SNORA37 small nucleolar RNA, H/ACA box 37 18 18 18 q21.2 48604949 48605077 - 51748654 51748782 - 54222284 54222412 - 15199136;16381836;19446021 677819 ABBA01018714;AC093462;AJ609444;AMYH02034753;NG_029550;NR_002970 Hs.655869 1791396 PMC109239P1 ACA37 snorna HGNC:32630 VALIDATED 1642101 SNORA38B small nucleolar RNA, H/ACA box 38B 17 17 17 q24.2 62308852 62308983 + 65736786 65736917 + 67740670 67740801 + 16990247;19446021 100124536 ABBA01028983;AC006534;AMYH02033849;NR_003706 Hs.693446 APPROVED snorna HGNC:33617 VALIDATED 1602239 SNORA41 small nucleolar RNA, H/ACA box 41 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 2 2 2 q33 200784382 200784513 + 207026952 207027083 + 206162228 206162359 + 6480464 15199136;16381836;19446021;22268729;3342024 619569 ABBA01062650;AC007383;AJ609464;AMYH02005626;NG_009248;NR_002590 Hs.742407 ACA41 snorna HGNC:32634 VALIDATED 1602240 SNORA4 small nucleolar RNA, H/ACA box 4 INTERACTS WITH 17beta-estradiol; bisphenol A 3 3 3 q27 184941564 184941700 + 186505402 186505538 + 186787613 186787749 + 6480464 15199136;16381836;19446021 619568 ABBA01058381;AC112907;AJ609452;AMYH02008350;NR_002588 Hs.743897 1735188 D3S2828E ACA4 snorna HGNC:32587 PROVISIONAL 1605446 SNORA43 small nucleolar RNA, H/ACA box 43 INTERACTS WITH aflatoxin B1 9 9 9 q34.3 110133679 110133812 - 139620556 139620689 - 136726104 136726237 - 6480464 14702039;15199136;16381836;19446021 677824 ABBA01022719;AJ609446;AK054908;AL355987;AMYH02021909;BC105975;NR_002975 Hs.495480 1748479;1787132;5015961;5037552;5109281 D15S1477;D1S1425;D8S2279;SHGC-155365;SHGC-32749 ACA43 snorna ENSG00000276161 HGNC:32636 PROVISIONAL 1602579 SNORA36A small nucleolar RNA, H/ACA box 36A Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residues U105 and U1244 of 18S rRNA. [provided by RefSeq, Feb 2009] X X X q28 154155367 154155498 + 153996803 153996934 + 154768528 154768659 + 15199136;16381836;19446021 677817 ABBA01029081;AC109993;AJ609463;AMYH02040856;NG_009780;NR_002969 Hs.689704 1817288;1818222;1825984;2039150;2039152;2039154;2039156;2039158;2039160;2039162;2039164;2039166;2039168;2102892 ECD09694;ECD10168;ECD14101;REN90596;REN90597;REN90598;REN90599;REN90600;REN90601;REN90602;REN90603;REN90604;REN90605;stSG604277 ACA36 APPROVED snorna HGNC:32628 REVIEWED 1602245 SNORA45A small nucleolar RNA, H/ACA box 45A ASSOCIATED WITH Melanoma (inferred) 11 11 11 p15 8823406 8823535 + 8705774 8705903 + 8684227 8684356 + 8554872 15199136;16381836;19446021;9047361 619562 ABBA01061210;AC091053;AJ609428;AMYH02024293;NR_002580 Hs.745527 2116450 SGC31250 ACA3;SNORA3 APPROVED snorna HGNC:32586 PROVISIONAL 733186 SNCA synuclein, alpha (non A4 component of amyloid precursor) Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Four alternatively spliced transcripts encoding two different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009] 4 4 4 q21 87942196 88056576 - 90645250 90759447 - 89724099 89838296 - 1302528;1302527;1300048;730239;1580863;1302872;1302570;1302583;631849;6480095;6218960;6478716;6478704;6478794;6480098;6478802;6480091;6478792;6478799;6480094;6480103;6218996;6480199;6480195;6480197;6480198;6480196;6480200;6478703;6480464;6907045;7240710;8554872;8699517 10557341;10651022;10678833;10707987;10746727;10934140;11572944;11733371;11810180;12122208;12410393;12657883;12665621;12684441;14556719;14637093;15147505;15499605;17448146;18577885;18800064;19198857;20697047;21264917;9197268;9462735;9749615 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6622 D6RA31;E7EPV7;H6UYS0;H6UYS5;P37840 ABBA01063566;ABBA01063567;AC093759;AC097478;AC108208;AF163864;AI815523;AK290169;AMYH02009712;AMYH02009713;AY049786;AY547269;AY548761;BC013293;BC108275;CH471057;CR457058;CR541653;CR736451;D31839;DA391115;DQ088379;FB659846;FB659854;HQ830267;HQ830268;HQ830269;JN709859;JN709860;JN709861;JN709862;JN709863;JN709864;JN709865;JN709866;JN709867;JN709868;JN709869;L08850;L36674;L36675;NG_011851;NM_000345;NM_001146054;NM_001146055;NM_007308;U46901 AAA16117;AAA98487;AAA98493;AAC02114;AAG30302;AAG30303;AAH13293;AAI08276;AAL15443;AAS57868;AAS83394;AAY40956;AAY88735;ABM83490;ABW03506;AEG20815;AEG20816;AEG20817;AFA25669;AFA25670;AFA25671;AFA25672;AFA25673;AFA25674;AFA25675;AFA25676;AFA25677;AFA25678;AFA25679;BAA06625;BAF82858;CAG33339;CAG46454;CAS01777;CAS01781;EAX06035;EAX06036;NP_000336;NP_001139526;NP_001139527;NP_009292;P37840 Hs.21374 1697986;1713105;1745077;1745079;1745101;1767749;1779159;1787872;1847701;1847703;2129396;2130704;2140264;2167167;2173153;2176436;2184807;5017989;5093488;5093934;5095215;5115616 1332;A009P36;A009Z12;D4S2505E;D4S3159;D4S3299;D4S3486;D4S3487;G32748;G33009;GDB:593720;GDB:593735;GDB:594029;RH102522;RH120340;SHGC-13157;SHGC-173536;SHGC-50183;SHGC-59776;SHGC-67637;SNCA_s25;STS-R93996 MGC110988;NACP;PARK1;PARK4;PD1 OTTHUMP00000161559;OTTHUMP00000161560;OTTHUMP00000161561;OTTHUMP00000218549;OTTHUMP00000218550;OTTHUMP00000218551;OTTHUMP00000218552;OTTHUMP00000218553;OTTHUMP00000218554;Parkinson disease (autosomal dominant, Lewy body) 4;alpha-synuclein;alpha-synuclein, isoform NACP140;non A-beta component of AD amyloid;non-A beta component of AD amyloid;non-A4 component of amyloid;synuclein alpha-140;synuclein, alpha APPROVED protein-coding ENSG00000145335 HGNC:11138 01227 127750;163890;168601;605543 REVIEWED 1602941 SNORA48 small nucleolar RNA, H/ACA box 48 17 17 17 p13.1 7504354 7504488 + 7478031 7478165 + 7574713 7574847 + 15199136;16381836;19446021;9047361 652965 ABBA01054873;AC016876;AJ609447;AMYH02032908;NR_002918 Hs.742408 1767709;1853135 A004D02;RH36626 ACA48 snorna HGNC:32641 PROVISIONAL 1602569 SNORA47 small nucleolar RNA, H/ACA box 47 INTERACTS WITH furan (ortholog) 5 5 5 q13.3 72270556 72270693 - 76376259 76376396 - 77080434 77080571 - 6480464 11387227;16381836;19446021 677828 ABBA01061977;AC008581;AMYH02011613;NR_003014 Hs.693249 HBI-115 snorna ENSG00000238961 HGNC:32640 PROVISIONAL 1602570 SNORA46 small nucleolar RNA, H/ACA box 46 16 16 16 q21 43081399 43081533 - 58582403 58582537 - 58548499 58548633 - 15199136;16381836;19446021 677827 ABBA01025307;AC009118;AC010287;AJ609467;AMYH02032123;NR_002978 Hs.688592 ACA46 snorna HGNC:32639 PROVISIONAL 1602571 SNORA45B small nucleolar RNA, H/ACA box 45B Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA45, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 11 11 11 p15.4 8824618 8824748 + 8706986 8707116 + 8685439 8685569 + 6480464;8554872 16361266;16381836;19446021 677826 ABBA01061210;AC091053;AM055744;AMYH02024293;NR_002977 Hs.745552 2166423;2166425;2189341 D11S4394;MARC_1767-1768:991931306:1;RP_L27A_1 ACA3-2;SNORA45 APPROVED snorna HGNC:32638 611333 PROVISIONAL 1602568 SNORA49 small nucleolar RNA, H/ACA box 49 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atenolol 12 12 12 q24.33 132134341 132134477 + 132515769 132515905 + 132031224 132031360 + 6480464;8554872 15199136;16381836;19446021 677829 ABBA01032798;AC137590;AJ609476;AMYH02027578;NR_002979 Hs.742405 ACA49 snorna HGNC:32642 VALIDATED 1602574 SNORA40 small nucleolar RNA, H/ACA box 40 ASSOCIATED WITH Melanoma (inferred) 11 11 11 q21 90759728 90759854 - 93468276 93468402 - 93735110 93735236 - 8554872 15199136;16381836;19446021 677822 ABBA01040043;AJ609445;AMYH02025366;AP001273;NR_002973 Hs.732267 1668602;1754157 D11S4346;SHGC-132183 ACA40 snorna ENSG00000210825 HGNC:32633 PROVISIONAL 1602572 SNORA44 small nucleolar RNA, H/ACA box 44 1 1 1 p35.3 27302659 27302790 - 28906893 28907024 - 28580381 28580512 - 15199136;16381836;19446021 677825 ABBA01035043;AJ609466;AL513497;AMYH02000632;NR_002976 Hs.632377 1779132;2128422 RH77841;SHGC-74498 ACA44 snorna ENSG00000273544 HGNC:32637 PROVISIONAL 1602242 SNORA52 small nucleolar RNA, H/ACA box 52 11 11 11 p15 878230 878363 + 811681 811814 + 811681 811814 + 15199136;16381836;19446021;9047361 619565 ABBA01015211;AJ609448;AMYH02024152;AP006621;NR_002585 Hs.689713 ACA52 snorna HGNC:32645 PROVISIONAL 1602535 SNORA57 small nucleolar RNA, H/ACA box 57 ASSOCIATED WITH Melanoma (inferred) 11 11 11 q12.2 59762472 59762620 + 62432894 62433042 + 62665422 62665570 + 8554872 14602913;15199136;16381836;19446021;22751105 692158 ABBA01003235;AMYH02024896;AP001458;AY349600;NR_004390 Hs.687390 U99 snorna HGNC:32651 PROVISIONAL 1602566 SNORA51 small nucleolar RNA, H/ACA box 51 20 20 20 p13 2700176 2700307 + 2635713 2635844 + 2655067 2655198 + 15199136;16381836;19446021 677831 ABBA01053795;AJ609477;AL049712;AMYH02036584;NG_032136;NR_002981 Hs.689698 ACA51 snorna HGNC:32644 VALIDATED 1602561 SNORA58 small nucleolar RNA, H/ACA box 58 INTERACTS WITH (+)-catechin; cadmium atom 3 3 3 q21.2 129623964 129624100 - 131197842 131198077 - 131478998 131479233 - 6480464 15199136;16381836;19446021 677836 ABBA01059194;AC107027;AJ609450;AMYH02007673;DW436402;NG_029207;NR_002985 Hs.735762 ACA58 snorna HGNC:32652 VALIDATED 1602564 SNORA54 small nucleolar RNA, H/ACA box 54 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 11 11 11 p15.4 3018839 3018961 - 2985001 2985123 - 2963771 2963893 - 6480464 15199136;16381836;19446021;20201924 677833 ABBA01032076;AC001228;AC131971;AJ609479;AMYH02024200;NR_002982 Hs.689696 ACA54 snorna HGNC:32647 PROVISIONAL 1602565 SNORA53 small nucleolar RNA, H/ACA box 53 12 12 12 q23.1 98658126 98658375 + 98993413 98993662 + 98599635 98599884 + 15199136;16381836;19446021 677832 ABBA01053283;AC013283;AMYH02027038;NG_011702;NR_003015 Hs.693250 ACA53 snorna HGNC:32646 VALIDATED 1602563 SNORA55 small nucleolar RNA, H/ACA box 55 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 1 1 1 p34.3 38314760 38314896 - 40033046 40033182 - 39567374 39567510 - 6480464 15199136;16381836;19446021 677834 ABBA01023207;AJ609480;AL365277;AMYH02000835;NR_002983 Hs.676660 ACA55 snorna HGNC:32649 PROVISIONAL 1602562 SNORA56 small nucleolar RNA, H/ACA box 56 Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residue U1664 of 28S rRNA. [provided by RefSeq, Feb 2009] X X X q28 154161836 154161964 + 154003273 154003401 + 154774998 154775126 + 6480464 15199136;16381836;19446021 677835 ABBA01029082;AC109993;AJ609449;AMYH02040857;NG_009780;NR_002984 Hs.745526 1810830;1812630;2039202;2039204;2039206;2039208;2039210;2039212;2039214;2039216;2102902 ECD06413;ECD07325;REN90622;REN90623;REN90624;REN90625;REN90626;REN90627;REN90628;REN90629;stSG604283 ACA56 APPROVED snorna HGNC:32650 REVIEWED 1602545 SNORA59A small nucleolar RNA, H/ACA box 59A ASSOCIATED WITH Melanoma (inferred) 1 1 1 p36.21 11678835 11678986 + 12567300 12567451 + 12507246 12507397 + 8554872 15199136;15252450;16381836;19446021 677885 ABBA01003085;AC243836;AJ609481;AL031296;DQ786227;NR_003025 Hs.658450;Hs.721005 ACA59 snorna HGNC:32653 PROVISIONAL 1602546 SNORA59B small nucleolar RNA, H/ACA box 59B ASSOCIATED WITH Melanoma (inferred) 17 17 17 p11.2 16873678 16873829 + 19460873 19461024 + 19557560 19557711 + 8554872 15199136;16381836;19446021 677882 ABBA01054604;AC025627;AMYH02033168;DQ786227;NR_003022 Hs.658450 ACA59 snorna HGNC:32658 PROVISIONAL 1602780 SNORA5A small nucleolar RNA, H/ACA box 5A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 7 7 7 p13 45242791 45242924 - 45143948 45144081 - 45104349 45104482 - 6480464;8554872 15199136;16381836;19446021 654319 ABBA01058248;AC013416;AJ609453;AMYH02015637;CH236960;NR_002919 Hs.689711 ACA5;ACA5A/B/C snorna HGNC:32588 PROVISIONAL 1602755 SNORA5B small nucleolar RNA, H/ACA box 5B ASSOCIATED WITH Melanoma (inferred) 7 7 7 p13 45244410 45244541 - 45145567 45145698 - 45105968 45106099 - 8554872 15199136;16381836;19446021 677795 ABBA01058248;AC013416;AMYH02015637;CH236960;NR_002990 Hs.693124 ACA5b snorna HGNC:32589 PROVISIONAL 1602754 SNORA5C small nucleolar RNA, H/ACA box 5C Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA5C, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 7 7 7 p13 45243348 45243484 - 45144505 45144641 - 45104906 45105042 - 6480464;8554872 15199136;16361266;16381836;19446021 677796 ABBA01058248;AC013416;AM055746;AMYH02015637;CH236960;NR_002991 Hs.692718 ACA5c APPROVED snorna HGNC:32590 611335 PROVISIONAL 1602560 SNORA60 small nucleolar RNA, H/ACA box 60 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 20 20 20 q11.23 33786818 33786953 + 37078012 37078147 + 38449369 38449504 + 6480464 14702039;15199136;16381836;19446021 677837 ABBA01052525;AJ609469;AK091209;AL049868;AMYH02037061;NR_002986 Hs.16936;Hs.706159 1693428;2149506 AL034527;WI-14331 ACA60 snorna ENSG00000199266 HGNC:32654 PROVISIONAL 1602576 SNORA38 small nucleolar RNA, H/ACA box 38 6 6 6 p21.33 33189079 33189210 + 31590856 31590987 + 31623079 31623210 + 15199136;16381836;19446021;24132900 677820 ABBA01038083;AJ609474;AL662801;AL662847;AL805934;AMYH02013452;BX511262;CR354443;CR753892;CR759761;NR_002971 Hs.689700 ACA38 snorna HGNC:32631 PROVISIONAL 1602253 SNORA6 small nucleolar RNA, H/ACA box 6 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 3 3 3 p22.2 39391466 39391614 + 39449882 39450030 + 39408391 39408539 + 6480464 15199136;16381836;19446021;23862649 574040 ABBA01024804;AC099332;AF375472;AJ609429;AMYH02006588;NG_033234;NR_002325 Hs.745521 ACA6 snorna HGNC:32591 VALIDATED 1602559 SNORA61 small nucleolar RNA, H/ACA box 61 INTERACTS WITH 17beta-estradiol; aflatoxin B1; cyclosporin A 1 1 1 p35.3 27302042 27302171 - 28906276 28906405 - 28579764 28579893 - 6480464 15199136;16381836;19446021 677838 ABBA01035043;AJ609451;AL513497;AMYH02000632;NR_002987 Hs.632377 1779132;2128422 RH77841;SHGC-74498 ACA61 snorna ENSG00000278274 HGNC:32655 PROVISIONAL 1348131 SNORA63 small nucleolar RNA, H/ACA box 63 INTERACTS WITH genistein 3 3 3 q27 184941250 184941384 + 186505088 186505222 + 186787299 186787433 + 6480464 19446021;8391637;8415643;8421699;9047361;9144174;9182768 6043 ABBA01058381;AC112907;AMYH02008350;L07384;L22740;NR_002586 Hs.518475 E3;E3-2;RNE3;RNU107 snorna HGNC:10106 180647 PROVISIONAL 1350000 SNORA62 small nucleolar RNA, H/ACA box 62 INTERACTS WITH N-methyl-N'-nitro-N-nitrosoguanidine 3 3 3 p22.1 39394155 39394308 + 39452545 39452698 + 39411054 39411207 + 6480464 16381836;19446021;23862649;8415643;8421699 6044 ABBA01024804;AC099332;AMYH02006589;L07383;NG_033234;NR_002324;U36484;U43901 Hs.449909 E2;E2-1;RNE2;RNU108 snorna HGNC:10107 180646 VALIDATED 1345878 SNORA65 small nucleolar RNA, H/ACA box 65 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); leflunomide (ortholog) 9 9 9 q34 100861656 100861791 - 130210781 130210916 - 127448502 127448637 - 6480464 15199136;16381836;19446021;9106664 26783 ABBA01043833;AL445222;AMYH02021683;NG_032008;NR_002449;Y11159 Hs.408054 RNU65;U65 snorna HGNC:10222 VALIDATED 1343246 SNORA66 small nucleolar RNA, H/ACA box 66 This gene encodes a non-coding RNA that functions in the biogenesis of other small nuclear RNAs. This RNA is found in the nucleolus, where it may be involved in the pseudouridylation of 18S ribosomal RNA. This RNA is found associated with the GAR1 protein. [provided by RefSeq, Apr 2009] 1 1 1 p22.1 91559868 91560000 + 93306276 93306408 + 92840719 92840851 + 15199136;16381836;19446021 26782 ABBA01045531;AL162740;AMYH02001489;NG_011779;NG_033051;NR_002444;Y11160 Hs.180946 1853666;1857859 Cda18a05;RH66440 RNU66;U66 APPROVED snorna HGNC:10223 REVIEWED 1347171 SNORA68 small nucleolar RNA, H/ACA box 68 INTERACTS WITH quercetin 19 19 19 p13 17875111 17875243 + 17973397 17973529 + 17862588 17862720 + 6480464 19446021;9106664;9182768 26780 ABBA01051233;AC005796;AMYH02035714;NR_000012;Y11162 Hs.684118 2135038 RP_L18A RNU68;U68 snorna HGNC:10225 PROVISIONAL 1344266 SNORA69 small nucleolar RNA, H/ACA box 69 This gene encodes a member of the family of box ACA small nucleolar RNAs, characterized by a consensus ACA motif positioned 3 nucleotides from the 3' end of the RNAs and a double-hairpin structure. The box ACA small nucleolar RNAs may play a role in rRNA maturation. This gene is co-transcribed with the ribosomal protein L39 gene. [provided by RefSeq, Oct 2009] X X X q24 119375935 119376066 - 118921316 118921447 - 119787353 119787484 - 6480464 15199136;16381836;19446021;3342024;9106664;9182768 26779 AB061835;ABBA01036625;AC005052;AMYH02040344;NG_016250;NR_002584;Y11163 Hs.675255 RNU69;U69;U69A APPROVED snorna HGNC:10226 VALIDATED 1352748 SNORA67 small nucleolar RNA, H/ACA box 67 17 17 17 p13.1 7507596 7507732 + 7481273 7481409 + 7577955 7578091 + 15199136;16381836;19446021;21145461;22118674;9106664;9182768 26781 ABBA01054873;AC016876;AMYH02032908;NR_002912;Y11161 Hs.129673 RNU67;U67 snorna HGNC:10224 PROVISIONAL 1642100 SNORA70B small nucleolar RNA, H/ACA box 70B INTERACTS WITH (+)-catechin 2 2 2 p15 61488819 61488952 - 61644379 61644512 - 61417244 61417377 - 16990247;19446021 100124537 ABBA01075353;AC016894;AMYH02003924;NR_003707 Hs.675825 1673932;1823746 ECD12965;RH68443 APPROVED snorna HGNC:33618 VALIDATED 1642099 SNORA70C small nucleolar RNA, H/ACA box 70C This gene produces a small nucleolar RNA (snoRNA) that plays a role in post-transcriptional modification. This snoRNA is a type-3 retrotransposed snoRNA, where the ribosomal protein L10 gene on chromosome X is its parental gene, and this, together with part of the parental gene, was subsequently mobilized into an intron of the astrotactin 2 host gene on chromosome 9. This snoRNA contains a H/ACA box, which serves as a guide for the pseudouridylation of selected bases of ribosomal RNA by forming short duplexes with the 18S rRNA U1692, the target for this snoRNA. This gene is specific to human, chimp and orangutan, and is not found in the genomes of rhesus or marmoset. [provided by RefSeq, Jun 2010] 9 9 9 q33.1 90591066 90591201 - 119943345 119943480 - 117181066 117181201 - 16990247;17154719;17175533;19446021 100124538 ABBA01016278;AL355608;AMYH02021544;NG_021409;NR_003708 Hs.693445 U70C APPROVED snorna HGNC:33619 REVIEWED 1342682 SNORA70 small nucleolar RNA, H/ACA box 70 INTERACTS WITH 2-methylcholine; melphalan X X X q28 153789678 153789812 + 153628622 153628756 + 154400281 154400415 + 6480464 15199136;19446021;8733135;9106664 26778 ABBA01045288;AC245140;BX936347;L44140;M81806;NG_012884;NG_012890;NR_000011;Y11164 Hs.534404 1665315;1677608;1802240;1803060;2036814;2036816;2036818;2036820;2036822;2036824;2036826;2036828;2036830;2036832;2036834;2102504 ECD02003;ECD02421;REN89417;REN89418;REN89419;REN89420;REN89421;REN89422;REN89423;REN89424;REN89425;REN89426;REN89427;RH45180;RP_L10;stSG604020 DXS648E;RNU70;U70 snorna HGNC:10231 VALIDATED 2974666 SNORA70D small nucleolar RNA, H/ACA box 70D 16 16 16 q22.3 56048528 56048662 - 71732470 71732604 - 71698567 71698701 - 19446021 100379141 ABBA01016781;AC009097;AMYH02032323;NR_033337 Hs.725116 U70D APPROVED snorna HGNC:34356 PROVISIONAL 2974667 SNORA70G small nucleolar RNA, H/ACA box 70G 12 12 12 q14 68684753 68684894 - 69021014 69021155 - 68627234 68627375 - 19446021 100379132 ABBA01026555;AC015550;AMYH02026696;NR_033335 Hs.724530 U70G APPROVED snorna ENSG00000206650 HGNC:34359 PROVISIONAL 1351285 SNORA71A small nucleolar RNA, H/ACA box 71A 20 20 20 q11.23 33764753 33764890 - 37055949 37056086 - 38427306 38427443 - 15199136;19446021;9106664 26777 ABBA01052525;AL080249;AL391095;AMYH02037061;NR_002911;Y11165 Hs.681779 1338575 D20S881 RNU71A;U71a snorna ENSG00000225091 HGNC:10232 PROVISIONAL 1602558 SNORA71C small nucleolar RNA, H/ACA box 71C 20 20 20 q11.23 33767114 33767251 - 37058310 37058447 - 38429667 38429804 - 15199136;16381836;19446021 677839 ABBA01052525;AL080249;AL391095;AMYH02037061;NR_003017 Hs.711516 U71c snorna ENSG00000201512 HGNC:32656 PROVISIONAL 1342964 SNORA64 small nucleolar RNA, H/ACA box 64 INTERACTS WITH aflatoxin B1; cyclosporin A 16 16 16 p13.3 2225156 2225289 - 2012974 2013107 - 1962973 1963106 - 6480464 15199136;16381836;19446021;9106664 26784 ABBA01030285;AC005363;AMYH02031241;NR_002326;Y11158 Hs.745496 1712348 G54162 RNU64;U64 snorna HGNC:10221 PROVISIONAL 1349458 SNORA71B small nucleolar RNA, H/ACA box 71B INTERACTS WITH cadmium dichloride 20 20 20 q11.23 33762642 33762777 - 37053843 37053978 - 38425195 38425330 - 6480464 15199136;19446021;9106664 26776 ABBA01052525;AL080249;AL391095;AMYH02037061;NR_002910;Y11166 Hs.400876 1338575 D20S881 RNU71B;U71b rna, u71b small nucleolar snorna ENSG00000235408;ENSG00000273718 HGNC:10233 PROVISIONAL 1602557 SNORA71D small nucleolar RNA, H/ACA box 71D INTERACTS WITH disodium selenite 20 20 20 q11.23 33771309 33771446 - 37062505 37062642 - 38433862 38433999 - 6480464 15199136;16381836;19446021;22751105 677840 ABBA01052525;AL080249;AL391095;AMYH02037061;NR_003018 Hs.653086 U71d snorna ENSG00000200354 HGNC:32657 PROVISIONAL 1345459 SNORA73B small nucleolar RNA, H/ACA box 73B 1 1 p36.1 27230847 27231051 + 28835070 28835274 + 19446021;8335005 6081 AL513497;L16792;NR_004406 1767391 SHGC-74505 E1c;RNU105A;RNU17B;U17B snorna HGNC:10116 603239 PROVISIONAL 1354060 SNORA73A small nucleolar RNA, H/ACA box 73A 1 1 1 p36.1 27229654 27229860 + 28833877 28834083 + 28507365 28507571 + 19446021;8335005;8391637;8421699 6080 ABBA01035034;AL513497;AMYH02000629;CX783521;L07382;L16791;NR_002907;S63405 1767391;5126835 PMC14794P2;SHGC-74505 E1;E1-7;E1b;RNE1;RNU17A;U17A snorna ENSG00000274266 HGNC:10115 180645 VALIDATED 1602575 SNORA71E small nucleolar RNA, H/ACA box 71E 20 20 20 q11.23 33785532 33785667 + 37076726 37076861 + 38448083 38448218 + 15199136;16381836;19446021 677821 ABBA01052525;AJ609475;AL049868;AMYH02037061;NR_002972 Hs.741059 ACA39;SNORA39 APPROVED snorna ENSG00000274309 HGNC:32632 PROVISIONAL 1602556 SNORA74B small nucleolar RNA, H/ACA box 74B Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA74B, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 5 5 5 q35.1 168481196 168481399 + 172447729 172447932 + 173020726 173020929 + 15199136;16361266;16381836;19446021 677841 ABBA01044033;AC008429;AM055743;AMYH02012762;NR_002988 Hs.692720 U19-2 APPROVED snorna ENSG00000212402 HGNC:32660 611331 PROVISIONAL 1345962 SNORA74A small nucleolar RNA, H/ACA box 74A INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; arsane 5 5 5 q31.2 134736190 134736389 + 138614469 138614668 + 139278780 139278979 + 6480464 16601202;19240791;19446021;8657112;9630250 26821 ABBA01068644;AC011404;AMYH02012315;NG_012846;NR_002915;X94290 Hs.684893 1780630 bac51452T RNU19;U19 snorna ENSG00000200959 HGNC:10119 VALIDATED 1349239 SNORA72 small nucleolar RNA, H/ACA box 72 8 8 8 q22 95240231 95240362 - 99054314 99054445 - 98042086 98042217 - 19446021;9047361;9106664;9182768 26775 AB070559;ABBA01037529;AMYH02018479;AP003352;NR_002581;Y11167 Hs.684855 RNU72;U72 snorna HGNC:10234 PROVISIONAL 2946884 SNORA70E small nucleolar RNA, H/ACA box 70E 11 11 11 80062270 80062404 - 82752506 82752640 - 83041464 83041598 - 19446021 100379250 ABBA01017368;AMYH02025190;AP001767;NR_033347 Hs.725115 U70E APPROVED snorna ENSG00000207221 HGNC:34357 PROVISIONAL 2881126 SNORA70F small nucleolar RNA, H/ACA box 70F 2 2 2 159154798 159154932 - 165544153 165544287 - 164687643 164687777 - 19446021;23754948 100337591 ABBA01004911;AC019181;AMYH02005122;NR_033309 Hs.664357 U70F APPROVED snorna HGNC:34358 PROVISIONAL 1602567 SNORA76A small nucleolar RNA, H/ACA box 76A INTERACTS WITH dioxygen; paracetamol 16 16 16 q21 43092696 43092831 - 58593700 58593835 - 58559796 58559931 - 6480464 15199136;16381836;19446021 677830 ABBA01025307;AC010287;AJ609468;AMYH02032123;NR_002980 Hs.677515 ACA50;SNORA50 APPROVED snorna HGNC:32643 PROVISIONAL 1602778 SNORA75 small nucleolar RNA, H/ACA box 75 INTERACTS WITH (-)-epigallocatechin 3-gallate; paracetamol; potassium chromate 2 2 2 q37.1 226096864 226097000 - 232320511 232320647 - 231455800 231455936 - 6480464 15199136;16381836;19446021;9182768 654321 ABBA01002057;AC017104;AJ007015;AMYH02005969;NR_002921 Hs.674388 1679593;1713497;5017595 NCL;RH120232;RH65048 U23 snorna HGNC:32661 PROVISIONAL 1602555 SNORA76C small nucleolar RNA, H/ACA box 76C INTERACTS WITH zinc atom; zinc(0) 17 17 17 q23.3 56611769 56611901 + 62223699 62223831 + 64146339 64146471 + 6480464 15199136;16381836;19446021 677842 ABBA01035308;AC025362;AMYH02033785;NR_002995 Hs.405444 ACA62;SNORA76 APPROVED snorna ENSG00000277887 HGNC:32662 PROVISIONAL 1602552 SNORA79 small nucleolar RNA, H/ACA box 79 14 14 14 q31.1 61708936 61709075 - 81669039 81669178 - 81202695 81202834 - 15199136;16381836;19446021 677845 ABBA01030612;AC010582;AL136040;AMYH02029623;NR_003021 Hs.693251 ACA65 snorna HGNC:32665 VALIDATED 1602554 SNORA77 small nucleolar RNA, H/ACA box 77 1 1 1 q32.1 176829054 176829178 + 203698709 203698833 + 203729581 203729705 + 15199136;16381836;19446021 677843 ABBA01027472;AC114402;AMYH02002517;NG_029589;NR_003019 Hs.676135 ACA63 snorna HGNC:32663 VALIDATED 1602553 SNORA78 small nucleolar RNA, H/ACA box 78 INTERACTS WITH benzo[a]pyrene diol epoxide I 16 16 16 p13.3 2227367 2227493 + 2015185 2015311 + 1965184 1965310 + 6480464 15199136;16381836;19446021 677844 ABBA01030285;AC005363;AC005606;AMYH02031241;BC028232;NR_003020 Hs.707294 1712348 G54162 ACA64 snorna ENSG00000273587 HGNC:32664 VALIDATED 1602244 SNORA7A small nucleolar RNA, H/ACA box 7A 3 3 3 p25 12820102 12820240 - 12881811 12881949 - 12840312 12840450 - 6480464 15199136;16381836;19446021;21145461;24778252;9047361 619563 ABBA01025188;AC034198;AJ609430;AMYH02006302;NR_002582 Hs.265174 ACA7 snorna ENSG00000207496 HGNC:32592 PROVISIONAL 1602753 SNORA7B small nucleolar RNA, H/ACA box 7B 3 3 3 q21.3 127542893 127543031 - 129116053 129116191 - 129397210 129397348 - 6480464 15199136;16381836;19446021 677797 ABBA01059231;AL449212;AMYH02007639;NR_002992 Hs.711399 2185311;2191469 D3S4252;MARC_23652-23653:1029502677:1 ACA7B snorna ENSG00000207088 HGNC:32593 PROVISIONAL 1602779 SNORA8 small nucleolar RNA, H/ACA box 8 INTERACTS WITH 17beta-estradiol 11 11 11 q21 90756979 90757117 - 93465527 93465665 - 93732361 93732499 - 6480464 15199136;16381836;19446021;3342024 654320 ABBA01040043;AJ609454;AMYH02025366;AP001273;NR_002920 Hs.741060 2147584 D11S4684 ACA8 snorna ENSG00000207304 HGNC:32596 PROVISIONAL 1602551 SNORA80A small nucleolar RNA, H/ACA box 80A 21 21 21 q22.11 18933122 18933257 - 33749496 33749631 - 32377187 32377322 - 15199136;16381836;19446021 677846 ABBA01057313;AMYH02037722;AP000268;NR_002996 Hs.712293 1806692;1808654;1833994;2019574;2019576;2019578;2019580;2019582;2019584;2019586;2019588;2019590;2019592;2019594;2019596;2019598;2019600;2019602;2019604;2019606;2099744;2099746;2099748 ECD04303;ECD05309;ECD18144;REN80735;REN80736;REN80737;REN80738;REN80739;REN80740;REN80741;REN80742;REN80743;REN80744;REN80745;REN80746;REN80747;REN80748;REN80749;REN80750;REN80751;stSG606347;stSG606348;stSG606349 ACA67;SNORA80 APPROVED snorna HGNC:32666 PROVISIONAL 2312689 SNORA80B small nucleolar RNA, H/ACA box 80B 2 2 2 p25.1 10502619 10502754 - 10586840 10586975 - 10446714 10446849 - 19446021 100302743 ABBA01015615;AC007249;AMYH02003267;NR_028374 Hs.730525 1793308 PMC207647P3 ACA67B snorna ENSG00000206633 HGNC:34355 PROVISIONAL 1602573 SNORA80E small nucleolar RNA, H/ACA box 80E 1 1 1 q22 128962604 128962737 - 155889700 155889833 - 155919909 155920042 - 15199136;16381836;19446021;21986946 677823 ABBA01016680;AJ609465;AL355388;AMYH02001956;NR_002974 Hs.676501 ACA42;SNORA42 APPROVED snorna HGNC:32635 PROVISIONAL 1602550 SNORA81 small nucleolar RNA, H/ACA box 81 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA81, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 3 3 3 q27.3 184940626 184940803 + 186504464 186504641 + 186786675 186786852 + 6480464 15199136;16361266;16381836;19446021 677847 ABBA01058381;AC112907;AM055745;AMYH02008350;NR_002989 Hs.688848 HBI-61 APPROVED snorna HGNC:32667 611334 PROVISIONAL 1642103 SNORA84 small nucleolar RNA, H/ACA box 84 9 9 9 q22.31 65491052 65491184 - 95054743 95054875 - 92292461 92292593 - 16990247;19446021 100124534 ABBA01018584;AL136097;AMYH02021220;NR_003704 Hs.693449 snorna ENSG00000239183 HGNC:33615 VALIDATED 1602752 SNORA9 small nucleolar RNA, H/ACA box 9 7 7 7 p13 45123743 45123875 - 45024977 45025109 - 44985378 44985510 - 15199136;16381836;19446021 677798 ABBA01058244;AC004847;AJ609431;AMYH02015634;CH236960;NR_002952 Hs.744745 ACA9 snorna ENSG00000277184 HGNC:32597 PROVISIONAL 1602250 SNORD100 small nucleolar RNA, C/D box 100 6 6 6 q23.2 133884768 133884843 + 133137941 133138016 + 132816802 132816877 + 11387227;19446021 594838 AB061840;ABBA01025876;AL137783;AMYH02014503;NR_002435 HBII-429 snorna HGNC:32763 PROVISIONAL 1602940 SNORD10 small nucleolar RNA, C/D box 10 17 17 17 p13.1 7506452 7506599 + 7480129 7480276 + 7576811 7576958 + 19446021;22751105;9844635 652966 ABBA01054873;AC016876;AMYH02032908;NR_002604 Hs.742526 1767709;2135284 A004D02;A005T43 mgU6-77 snorna HGNC:32706 PROVISIONAL 1602251 SNORD101 small nucleolar RNA, C/D box 101 6 6 6 q23.2 133883273 133883345 + 133136446 133136518 + 132815307 132815379 + 14602913;19446021 594837 ABBA01025876;AL137783;AMYH02014503;AY349602;NR_002434 U101 snorna HGNC:32764 PROVISIONAL 2947026 SNORD103B small nucleolar RNA, C/D box 103B ASSOCIATED WITH Melanoma (inferred) 1 1 1 p35.2 29677881 29677968 - 31421965 31422052 - 30949118 30949205 - 8554872 14602913;19446021 692235 ABBA01023490;AL445235;AMYH02000669;NR_033295 U103B snorna HGNC:32767 VALIDATED 1602329 SNORD102 small nucleolar RNA, C/D box 102 13 13 13 q12.2 8898074 8898145 + 27829201 27829272 + 27255064 27255135 + 14602913;19446021 26771 AB061826;ABBA01035750;AL159977;AMYH02027748;AY349603;NR_002574 RNU102;Z18 snorna HGNC:10099 PROVISIONAL 1602349 SNORD103A small nucleolar RNA, C/D box 103A ASSOCIATED WITH Melanoma (inferred) 1 1 1 p35.2 29664456 29664543 - 31408536 31408623 - 30935689 30935776 - 8554872 14602913;19446021 692234 ABBA01023492;AL445235;AMYH02000668;AY349604;NR_004054 U103 snorna HGNC:32766 VALIDATED 1602352 SNORD104 small nucleolar RNA, C/D box 104 INTERACTS WITH all-trans-retinoic acid; cadmium atom; methyl methanesulfonate 17 17 17 q23.3 56611508 56611587 + 62223438 62223517 + 64146078 64146157 + 6480464 14602913;19446021 692227 ABBA01035308;AC025362;AMYH02033785;AY349605;NR_004380 U104 snorna ENSG00000199753 HGNC:32768 PROVISIONAL 1626531 SNORD105B small nucleolar RNA, C/D box 105B 19 19 19 p13.2 10115916 10116007 + 10220425 10220516 + 10109749 10109840 + 16990247;19446021 100113382 ABBA01029947;AC020931;AMYH02035484;NR_003688 snorna HGNC:33572 PROVISIONAL 1602351 SNORD105 small nucleolar RNA, C/D box 105 19 19 19 p13.2 10113818 10113902 + 10218327 10218411 + 10107651 10107735 + 14602913;19446021 692229 ABBA01029947;AC020931;AMYH02035484;AY349606;NR_004381 U105 snorna HGNC:32769 PROVISIONAL 1605817 SNORD108 small nucleolar RNA, C/D box 108 15 15 15 q11.2 3394065 3394133 + 25232072 25232140 + 24986925 24986993 + 11726556;19446021 338427 ABBA01048688;AC124312;AMYH02030094;AY055807;NG_002690;NR_001292 HBII-437 snorna ENSG00000239014 HGNC:32772 VALIDATED 1605816 SNORD109A small nucleolar RNA, C/D box 109A This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010] 15 15 15 q11.2 3449108 3449174 + 25287121 25287187 + 25041974 25042040 + 11726556;19446021 338428 ABBA01048688;AC124312;AMYH02030094;AY055808;NG_002690;NR_001295 HBII-438A APPROVED snorna ENSG00000274640 HGNC:32773 REVIEWED 1605815 SNORD109B small nucleolar RNA, C/D box 109B This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010] 15 15 15 q11.2 3685513 3685579 + 25523490 25523556 + 25278343 25278409 + 11726556;19446021 338429 ABBA01048691;AC100774;AMYH02030094;NG_002690;NR_001289 HBII-438B APPROVED snorna ENSG00000239169 HGNC:32774 REVIEWED 1602359 SNORD110 small nucleolar RNA, C/D box 110 20 20 20 p13 2699321 2699395 + 2634858 2634932 + 2654212 2654286 + 11387227;19446021 692213 ABBA01053795;AL049712;AMYH02036584;NG_032136;NR_003078 HBII-55 snorna HGNC:32775 VALIDATED 1602748 SNORD11 small nucleolar RNA, C/D box 11 2 2 2 q33.1 196909678 196909761 + 203157774 203157857 + 202293051 202293134 + 11387227;19446021 692058 ABBA01062559;AC064836;AMYH02005562;NR_003031 HBII-95 snorna HGNC:32707 PROVISIONAL 1602358 SNORD111 small nucleolar RNA, C/D box 111 16 16 16 q22.1 54956138 54956231 - 70571908 70572001 + 70538005 70538098 + 11387227;19446021 692214 ABBA01010656;AC106804;AMYH02032307;NR_003079 HBII-82 snorna HGNC:32776 PROVISIONAL 1606194 SNORD107 small nucleolar RNA, C/D box 107 Small nucleolar RNAs (snoRNAs) are small non-coding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in a cluster of genes including the SNURF-SNRPN gene, which serves as a host for multiple snoRNAs. [provided by RefSeq, Oct 2011] 15 15 15 q11.2 3389136 3389210 + 25227141 25227215 + 24981994 24982068 + 11726556;19446021 91380 ABBA01048688;AC124312;AMYH02030094;AY055806;NG_002690;NR_001293 HBII-436 APPROVED snorna ENSG00000276314 HGNC:32771 REVIEWED 1626520 SNORD111B small nucleolar RNA, C/D box 111B 16 16 16 q22.1 54964649 54964742 - 70563402 70563502 + 70529499 70529599 + 16381832;16990247;19446021;20483914 100113402 ABBA01010657;AC106804;AMYH02032307;NR_037420 MIR3647 APPROVED snorna HGNC:33579 PROVISIONAL 1602357 SNORD112 small nucleolar RNA, C/D box 112 Small nucleolar RNAs (snoRNAs), like SNORD112, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010] 14 14 14 q32.31 81418079 81418155 + 101364257 101364333 + 100897920 100897996 + 12045206;19446021 692215 ABBA01048515;AL117190;AMYH02029864;NR_003080 1768378 RH44958 14q(0) APPROVED snorna ENSG00000275662 HGNC:32777 613649 PROVISIONAL 1602532 SNORD113-1 small nucleolar RNA, C/D box 113-1 Small nucleolar RNAs (snoRNAs), like SNORD113-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD113-1 is 1 of 9 tandem SNORD113 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010] 14 14 14 q32.31 81444989 81445058 + 101391158 101391227 + 100924821 100924890 + 12045206;19446021 767561 ABBA01048514;AL117190;AMYH02029865;NR_003229 14q(I-1) APPROVED snorna ENSG00000202191 HGNC:32980 613650 PROVISIONAL 1602531 SNORD113-2 small nucleolar RNA, C/D box 113-2 14 14 14 q32.31 81447510 81447580 + 101393679 101393749 + 100927342 100927412 + 12045206;19446021 767562 ABBA01048514;AL132709;AMYH02029865;NR_003230 14q(I-2) snorna ENSG00000212384 HGNC:32981 PROVISIONAL 1602528 SNORD113-5 small nucleolar RNA, C/D box 113-5 14 14 14 q32.31 81458358 81458434 + 101404524 101404600 + 100938187 100938263 + 12045206;19446021 767565 ABBA01048514;AL132709;AMYH02029865;NR_003233 14q(I-5) snorna ENSG00000272474 HGNC:32984 PROVISIONAL 1602527 SNORD113-6 small nucleolar RNA, C/D box 113-6 14 14 14 q32.31 81459727 81459800 + 101405893 101405966 + 100939556 100939629 + 12045206;19446021 767566 ABBA01048514;AL132709;AMYH02029865;NR_003234 14q(I-6) snorna ENSG00000200215 HGNC:32985 PROVISIONAL 1602524 SNORD113-9 small nucleolar RNA, C/D box 113-9 14 14 14 q32.31 81465820 81465890 + 101411986 101412056 + 100945649 100945719 + 12045206;19446021 767569 ABBA01048514;AL132709;AMYH02029865;NR_003237 14q(I-9) snorna ENSG00000201950 HGNC:32988 PROVISIONAL 1602530 SNORD113-3 small nucleolar RNA, C/D box 113-3 14 14 14 q32.31 81450087 81450157 + 101396256 101396326 + 100929919 100929989 + 12045206;19446021 767563 ABBA01048514;AL132709;AMYH02029865;NR_003231 14q(I-3) snorna ENSG00000201700 HGNC:32982 PROVISIONAL 1602525 SNORD113-8 small nucleolar RNA, C/D box 113-8 14 14 14 q32.31 81463622 81463694 + 101409788 101409860 + 100943451 100943523 + 12045206;19446021 767568 ABBA01048514;AL132709;AMYH02029865;NR_003236 14q(I-8) snorna ENSG00000200367 HGNC:32987 PROVISIONAL 1602529 SNORD113-4 small nucleolar RNA, C/D box 113-4 14 14 14 q32.31 81456661 81456734 + 101402828 101402901 + 100936491 100936564 + 12045206;19446021 767564 ABBA01048514;AL132709;AMYH02029865;NR_003232 14q(I-4) snorna ENSG00000201672 HGNC:32983 PROVISIONAL 1602523 SNORD114-1 small nucleolar RNA, C/D box 114-1 Small nucleolar RNAs (snoRNAs), like SNORD114-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD114-1 is 1 of 31 tandem SNORD114 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010] 14 14 14 q32 81470004 81470074 + 101416170 101416240 + 100949833 100949903 + 12045206;19446021 767577 ABBA01048514;AL132709;AMYH02029865;NR_003193 14q(II-1) APPROVED snorna ENSG00000199575 HGNC:32989 613651 PROVISIONAL 1602526 SNORD113-7 small nucleolar RNA, C/D box 113-7 14 14 14 q32.31 81461297 81461372 + 101407463 101407538 + 100941126 100941201 + 12045206;19446021 767567 ABBA01048514;AL132709;AMYH02029865;NR_003235 14q(I-7) snorna ENSG00000200632 HGNC:32986 PROVISIONAL 1602514 SNORD114-10 small nucleolar RNA, C/D box 114-10 14 14 14 q32 81489388 81489458 + 101433389 101433459 + 100967052 100967122 + 12045206;19446021 767588 ABBA01048514;AL132709;AMYH02029866;NR_003203 1652470;2126608 RH45990;SHGC-53623 14q(II-10) snorna ENSG00000200279 HGNC:32998 PROVISIONAL 1602513 SNORD114-11 small nucleolar RNA, C/D box 114-11 14 14 14 q32 81490447 81490520 + 101434448 101434521 + 100968111 100968184 + 12045206;19446021 767589 ABBA01048514;AL132709;AMYH02029866;NR_003204 1652470;2126608 RH45990;SHGC-53623 14q(II-11) snorna ENSG00000200608 HGNC:32999 PROVISIONAL 1602512 SNORD114-12 small nucleolar RNA, C/D box 114-12 14 14 14 q32 81491284 81491357 + 101435285 101435358 + 100968948 100969021 + 12045206;19446021 767590 ABBA01048514;AL132709;AMYH02029866;NR_003205 14q(II-12) snorna ENSG00000202270 HGNC:33000 PROVISIONAL 1602510 SNORD114-14 small nucleolar RNA, C/D box 114-14 14 14 14 q32 81494440 81494513 + 101438440 101438513 + 100972103 100972176 + 12045206;19446021 767592 ABBA01048514;AL132709;AMYH02029866;NR_003207 14q(II-14) snorna ENSG00000199593 HGNC:33002 PROVISIONAL 1602511 SNORD114-13 small nucleolar RNA, C/D box 114-13 14 14 14 q32 81492215 81492287 + 101436216 101436288 + 100969879 100969951 + 12045206;19446021 767591 ABBA01048514;AL132709;AMYH02029866;NR_003206 14q(II-13) snorna ENSG00000201247 HGNC:33001 PROVISIONAL 1602507 SNORD114-17 small nucleolar RNA, C/D box 114-17 14 14 14 q32 81497143 81497216 + 101441143 101441216 + 100974806 100974879 + 12045206;19446021 767595 ABBA01048514;AL132709;AMYH02029866;NR_003210 14q(II-17) snorna ENSG00000201569 HGNC:33005 PROVISIONAL 1602509 SNORD114-15 small nucleolar RNA, C/D box 114-15 14 14 14 q32 81495007 81495077 + 101439007 101439077 + 100972670 100972740 + 12045206;19446021 767593 ABBA01048514;AL132709;AMYH02029866;NR_003208 14q(II-15) snorna ENSG00000201557 HGNC:33003 PROVISIONAL 1602506 SNORD114-18 small nucleolar RNA, C/D box 114-18 14 14 14 q32 81498162 81498232 + 101442162 101442232 + 100975825 100975895 + 12045206;19446021 767596 ABBA01048514;AL132709;AMYH02029866;NR_003211 14q(II-18) snorna ENSG00000202142 HGNC:33006 PROVISIONAL 1602522 SNORD114-2 small nucleolar RNA, C/D box 114-2 14 14 14 q32 81472027 81472102 + 101418193 101418269 + 100951856 100951932 + 12045206;19446021 767578 ABBA01048514;AL132709;AMYH02029865;NR_003194 1689975 RH80736 14q(II-2) snorna ENSG00000200823 HGNC:32990 PROVISIONAL 1602505 SNORD114-19 small nucleolar RNA, C/D box 114-19 14 14 14 q32 81498814 81498887 + 101442814 101442887 + 100976477 100976550 + 12045206;19446021 767597 ABBA01048514;AL132709;AMYH02029866;NR_003212 14q(II-19) snorna ENSG00000199942 HGNC:33007 PROVISIONAL 1602504 SNORD114-20 small nucleolar RNA, C/D box 114-20 14 14 14 q32 81503341 81503411 + 101447341 101447411 + 100981004 100981074 + 12045206;19446021 767598 ABBA01048514;AL132709;AMYH02029866;NR_003213 14q(II-20) snorna ENSG00000202048 HGNC:33008 PROVISIONAL 1602503 SNORD114-21 small nucleolar RNA, C/D box 114-21 14 14 14 q32 81504312 81504382 + 101448312 101448382 + 100981975 100982045 + 12045206;19446021 767599 ABBA01048514;AL132709;AMYH02029866;NR_003214 14q(II-21) snorna ENSG00000272344 HGNC:33009 PROVISIONAL 1602348 SNORD114-22 small nucleolar RNA, C/D box 114-22 14 14 14 q32 81505263 81505333 + 101449263 101449333 + 100982926 100982996 + 12045206;19446021 767600 ABBA01048514;AL132709;AMYH02029866;NR_003215 14q(II-22) snorna ENSG00000202293 HGNC:33010 PROVISIONAL 1602347 SNORD114-23 small nucleolar RNA, C/D box 114-23 14 14 14 q32 81506213 81506283 + 101450213 101450283 + 100983876 100983946 + 12045206;19446021 767603 ABBA01048514;AL132709;AMYH02029866;NR_003216 14q(II-23) snorna ENSG00000200406 HGNC:33011 PROVISIONAL 1602346 SNORD114-24 small nucleolar RNA, C/D box 114-24 14 14 14 q32 81507113 81507183 + 101451114 101451184 + 100984777 100984847 + 12045206;19446021 767604 ABBA01048514;AL132709;AMYH02029866;NR_003217 14q(II-24) snorna ENSG00000201899 HGNC:33012 PROVISIONAL 1602345 SNORD114-25 small nucleolar RNA, C/D box 114-25 14 14 14 q32 81508393 81508463 + 101452394 101452464 + 100986057 100986127 + 12045206;19446021 767605 ABBA01048514;AL132709;AMYH02029866;NR_003218 14q(II-25) snorna ENSG00000200612 HGNC:33013 PROVISIONAL 1602343 SNORD114-27 small nucleolar RNA, C/D box 114-27 14 14 14 q32 81510497 81510565 + 101454498 101454566 + 100988161 100988229 + 12045206;19446021 767608 ABBA01048514;AL132709;AMYH02029866;NR_003220 14q(II-27) snorna ENSG00000200636 HGNC:33015 PROVISIONAL 1602344 SNORD114-26 small nucleolar RNA, C/D box 114-26 14 14 14 q32 81509382 81509452 + 101453383 101453453 + 100987046 100987116 + 12045206;19446021 767606 ABBA01048514;AL132709;AMYH02029866;NR_003219 14q(II-26) snorna ENSG00000200413 HGNC:33014 PROVISIONAL 1602342 SNORD114-28 small nucleolar RNA, C/D box 114-28 14 14 14 q32 81511466 81511536 + 101455467 101455537 + 100989130 100989200 + 12045206;19446021 767609 ABBA01048514;AL132709;AMYH02029866;NR_003221 14q(II-28) snorna ENSG00000200480 HGNC:33016 PROVISIONAL 1602521 SNORD114-3 small nucleolar RNA, C/D box 114-3 14 14 14 q32 81473519 81473592 + 101419686 101419759 + 100953349 100953422 + 12045206;14702039;19446021 767579 ABBA01048514;AK001109;AL132709;AMYH02029865;NR_003195 Hs.613596 1689975;1696942;2167504 D1S3497;RH101943;RH80736 14q(II-3) snorna ENSG00000201839 HGNC:32991 PROVISIONAL 1602520 SNORD114-4 small nucleolar RNA, C/D box 114-4 14 14 14 q32 81474511 81474614 + 101420681 101420784 + 100954344 100954447 + 12045206;19446021 767580 ABBA01048514;AL132709;AMYH02029866;NR_003196 Hs.651071 1696942;2167504 D1S3497;RH101943 14q(II-4) snorna HGNC:32992 PROVISIONAL 1602519 SNORD114-5 small nucleolar RNA, C/D box 114-5 14 14 14 q32 81475537 81475605 + 101421707 101421775 + 100955370 100955438 + 12045206;19446021 767581 ABBA01048514;AL132709;AMYH02029866;NR_003197 14q(II-5) snorna ENSG00000199798 HGNC:32993 PROVISIONAL 1602518 SNORD114-6 small nucleolar RNA, C/D box 114-6 14 14 14 q32 81477333 81477403 + 101423503 101423573 + 100957166 100957236 + 12045206;19446021 767582 ABBA01048514;AL132709;AMYH02029866;NR_003198 14q(II-6) snorna ENSG00000201263 HGNC:32994 PROVISIONAL 1602517 SNORD114-7 small nucleolar RNA, C/D box 114-7 14 14 14 q32 81485387 81485462 + 101429391 101429466 + 100963054 100963129 + 12045206;19446021 767583 ABBA01048514;AL132709;AMYH02029866;NR_003199 1721173;5094206 G54611;G59423 14q(II-7) snorna ENSG00000199390 HGNC:32995 PROVISIONAL 1602516 SNORD114-8 small nucleolar RNA, C/D box 114-8 14 14 14 q32 81487114 81487184 + 101431118 101431188 + 100964781 100964851 + 12045206;19446021 767584 ABBA01048514;AL132709;AMYH02029866;NR_003200 1721173;5094206 G54611;G59423 14q(II-8) snorna HGNC:32996 PROVISIONAL 1605814 SNORD115-1 small nucleolar RNA, C/D box 115-1 This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 3577882 3577963 + 25415870 25415951 + 25170723 25170804 + 6480464 11106375;11726556;12045206;15565282;15939761;16357227;18616950;19446021;20301505 338433 ABBA01048690;AC124303;AF250841;AMYH02030094;NG_002690;NR_001291 HBII-52-1;RNHBII52 APPROVED snorna ENSG00000201831 HGNC:33020 609837 REVIEWED 1602515 SNORD114-9 small nucleolar RNA, C/D box 114-9 14 14 14 q32 81488362 81488432 + 101432366 101432436 + 100966029 100966099 + 12045206;19446021 767585 ABBA01048514;AL132709;AMYH02029866;NR_003201 14q(II-9) snorna ENSG00000201240 HGNC:32997 PROVISIONAL 1604083 SNORD115-10 small nucleolar RNA, C/D box 115-10 15 15 15 q11.2 3594695 3594775 + 25432683 25432763 + 25187536 25187616 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033447 ABBA01017984;AC124303;AF250841;AMYH02030094;NG_002690;NR_003302 HBII-52-10 snorna ENSG00000201943 HGNC:33029 PROVISIONAL 1604082 SNORD115-11 small nucleolar RNA, C/D box 115-11 INTERACTS WITH cadmium atom 15 15 15 q11.2 3596573 3596654 + 25434561 25434642 + 25189414 25189495 + 6480464 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033448 ABBA01017984;AC124303;AF250841;AMYH02030094;NG_002690;NR_003303 HBII-52-11 snorna ENSG00000200486 HGNC:33030 PROVISIONAL 1602508 SNORD114-16 small nucleolar RNA, C/D box 114-16 14 14 14 q32 81495932 81496000 + 101439932 101440000 + 100973595 100973663 + 12045206;19446021 767594 ABBA01048514;AL132709;AMYH02029866;NR_003209 14q(II-16) snorna ENSG00000199914 HGNC:33004 PROVISIONAL 1604081 SNORD115-12 small nucleolar RNA, C/D box 115-12 INTERACTS WITH cadmium atom 15 15 15 q11.2 3598575 3598656 + 25436563 25436644 + 25191416 25191497 + 6480464 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033449 ABBA01017984;AC124303;AF250841;AMYH02030094;NG_002690;NR_003304 HBII-52-12 snorna ENSG00000199453 HGNC:33031 PROVISIONAL 1604080 SNORD115-13 small nucleolar RNA, C/D box 115-13 15 15 15 q11.2 3600480 3600561 + 25438468 25438549 + 25193321 25193402 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033450 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003305 HBII-52-13 snorna ENSG00000273835 HGNC:33032 PROVISIONAL 1602339 SNORD114-31 small nucleolar RNA, C/D box 114-31 14 14 14 q32 81515572 81515645 + 101459573 101459646 + 100993236 100993309 + 12045206;19446021;24057671;24529757 767612 ABBA01048514;AL132709;AMYH02029866;NR_003224 1660155;5093760 A009W10;G32907 14q(II-31) snorna ENSG00000200089 HGNC:33019 PROVISIONAL 1602340 SNORD114-30 small nucleolar RNA, C/D box 114-30 14 14 14 q32 81514255 81514325 + 101458256 101458326 + 100991919 100991989 + 12045206;19446021 767611 ABBA01048514;AL132709;AMYH02029866;NR_003223 14q(II-30) snorna ENSG00000201318 HGNC:33018 PROVISIONAL 1602341 SNORD114-29 small nucleolar RNA, C/D box 114-29 14 14 14 q32 81512427 81512495 + 101456428 101456496 + 100990091 100990159 + 12045206;19446021 767610 ABBA01048514;AL132709;AMYH02029866;NR_003222 14q(II-29) snorna ENSG00000201689 HGNC:33017 PROVISIONAL 1604078 SNORD115-15 small nucleolar RNA, C/D box 115-15 15 15 15 q11.2 3604735 3604815 + 25442723 25442803 + 25197576 25197656 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033453 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003307 HBII-52-15 snorna ENSG00000201679 HGNC:33034 PROVISIONAL 1604079 SNORD115-14 small nucleolar RNA, C/D box 115-14 15 15 15 q11.2 3602080 3602160 + 25440068 25440148 + 25194921 25195001 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033451 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003306 HBII-52-14 snorna ENSG00000199960 HGNC:33033 PROVISIONAL 1604076 SNORD115-17 small nucleolar RNA, C/D box 115-17 15 15 15 q11.2 3608482 3608563 + 25446470 25446551 + 25201323 25201404 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033455 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003309 HBII-52-17 snorna ENSG00000201482 HGNC:33036 PROVISIONAL 1604077 SNORD115-16 small nucleolar RNA, C/D box 115-16 15 15 15 q11.2 3606607 3606688 + 25444595 25444676 + 25199448 25199529 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033454 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003308 HBII-52-16 snorna ENSG00000200757 HGNC:33035 PROVISIONAL 1604075 SNORD115-18 small nucleolar RNA, C/D box 115-18 15 15 15 q11.2 3610386 3610467 + 25448374 25448455 + 25203227 25203308 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033456 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003310 HBII-52-18 snorna ENSG00000200163 HGNC:33037 PROVISIONAL 1604074 SNORD115-19 small nucleolar RNA, C/D box 115-19 15 15 15 q11.2 3611516 3611597 + 25449504 25449585 + 25204357 25204438 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033458 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003311 HBII-52-19 snorna ENSG00000199968 HGNC:33038 PROVISIONAL 1604073 SNORD115-20 small nucleolar RNA, C/D box 115-20 INTERACTS WITH cadmium atom 15 15 15 q11.2 3613433 3613514 + 25451409 25451490 + 25206262 25206343 + 6480464 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033460 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003312 HBII-52-20 snorna ENSG00000201969 HGNC:33039 PROVISIONAL 1603413 SNORD115-21 small nucleolar RNA, C/D box 115-21 15 15 15 q11.2 3615254 3615334 + 25453230 25453310 + 25208083 25208163 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033603 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003313 HBII-52-21 snorna ENSG00000199833 HGNC:33040 PROVISIONAL 1606846 SNORD115-22 small nucleolar RNA, C/D box 115-22 15 15 15 q11.2 3617089 3617170 + 25455065 25455146 + 25209918 25209999 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033799 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003314 HBII-52-22 snorna ENSG00000201326 HGNC:33041 PROVISIONAL 1606613 SNORD115-23 small nucleolar RNA, C/D box 115-23 15 15 15 q11.2 3618967 3619048 + 25456943 25457024 + 25211796 25211877 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033800 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003315 HBII-52-23 snorna ENSG00000201331 HGNC:33042 PROVISIONAL 1606612 SNORD115-25 small nucleolar RNA, C/D box 115-25 15 15 15 q11.2 3622712 3622793 + 25460688 25460769 + 25215541 25215622 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033801 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003342 HBII-52-25 snorna ENSG00000199489 HGNC:33044 PROVISIONAL 4144953 SNORD115-24 small nucleolar RNA, C/D box 115-24 15 15 15 q11.2 3620830 3620900 + 25458806 25458876 + 25213659 25213729 + 11106375;11726556 100036563 ABBA01048691;AC124303;AMYH02030094;NG_002690;NR_003495 HBII-52-24 snorna ENSG00000200398 HGNC:33043 PROVISIONAL 1606610 SNORD115-29 small nucleolar RNA, C/D box 115-29 15 15 15 q11.2 3630417 3630498 + 25468393 25468474 + 25223246 25223327 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033803 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003344 HBII-52-29 snorna ENSG00000199704 HGNC:33048 PROVISIONAL 1606609 SNORD115-30 small nucleolar RNA, C/D box 115-30 INTERACTS WITH cadmium atom 15 15 15 q11.2 3632374 3632455 + 25470350 25470431 + 25225203 25225284 + 6480464 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033804 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003345 HBII-52-30 snorna ENSG00000200987 HGNC:33049 PROVISIONAL 1606611 SNORD115-26 small nucleolar RNA, C/D box 115-26 INTERACTS WITH cadmium atom 15 15 15 q11.2 3625788 3625869 + 25463764 25463845 + 25218617 25218698 + 6480464 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033802 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003343 HBII-52-26 snorna ENSG00000275524 HGNC:33045 PROVISIONAL 5483732 SNORD115-28 small nucleolar RNA, C/D box 115-28 15 15 15 q11.2 3629525 3629598 + 25467501 25467574 + 25222354 25222427 + 11106375;11726556 100036565 ABBA01048691;AC124303;AMYH02030094;NG_002690;NR_003497 HBII-52-28 snorna ENSG00000200801 HGNC:33047 PROVISIONAL 5483736 SNORD115-27 small nucleolar RNA, C/D box 115-27 15 15 15 q11.2 3627674 3627749 + 25465650 25465725 + 25220503 25220578 + 11106375;11726556 100036564 ABBA01048691;AC124303;AMYH02030094;NG_002690;NR_003496 HBII-52-27 snorna ENSG00000201300 HGNC:33046 PROVISIONAL 1606608 SNORD115-31 small nucleolar RNA, C/D box 115-31 15 15 15 q11.2 3634280 3634361 + 25472256 25472337 + 25227109 25227190 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033805 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003346 HBII-52-31 snorna ENSG00000202188 HGNC:33050 PROVISIONAL 1604093 SNORD115-2 small nucleolar RNA, C/D box 115-2 15 15 15 q11.2 3579794 3579875 + 25417782 25417863 + 25172635 25172716 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033437 ABBA01048690;AC124303;AF250841;AMYH02030094;NG_002690;NR_003294 HBII-52-2 snorna ENSG00000199712 HGNC:33021 PROVISIONAL 1606606 SNORD115-33 small nucleolar RNA, C/D box 115-33 15 15 15 q11.2 3638009 3638090 + 25475985 25476066 + 25230838 25230919 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033807 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003348 HBII-52-33 snorna ENSG00000200593 HGNC:33052 PROVISIONAL 1604090 SNORD115-3 small nucleolar RNA, C/D box 115-3 15 15 15 q11.2 3582086 3582167 + 25420074 25420155 + 25174927 25175008 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033440 ABBA01001014;ABBA01048690;AC124303;AF250841;AMYH02030094;NG_002690;NR_003295 HBII-52-3 snorna ENSG00000199970 HGNC:33022 PROVISIONAL 1606607 SNORD115-32 small nucleolar RNA, C/D box 115-32 15 15 15 q11.2 3636138 3636219 + 25474114 25474195 + 25228967 25229048 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033806 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003347 HBII-52-32 snorna ENSG00000200949 HGNC:33051 PROVISIONAL 1606604 SNORD115-35 small nucleolar RNA, C/D box 115-35 15 15 15 q11.2 3641418 3641499 + 25479394 25479475 + 25234247 25234328 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033809 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003350 HBII-52-35 snorna ENSG00000201992 HGNC:33054 PROVISIONAL 1606603 SNORD115-36 small nucleolar RNA, C/D box 115-36 15 15 15 q11.2 3643256 3643337 + 25481232 25481313 + 25236085 25236166 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033810 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003351 HBII-52-36 snorna ENSG00000202499 HGNC:33055 PROVISIONAL 1606605 SNORD115-34 small nucleolar RNA, C/D box 115-34 15 15 15 q11.2 3639558 3639639 + 25477534 25477615 + 25232387 25232468 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033808 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003349 HBII-52-34 snorna ENSG00000199311 HGNC:33053 PROVISIONAL 1606601 SNORD115-38 small nucleolar RNA, C/D box 115-38 15 15 15 q11.2 3647009 3647090 + 25484985 25485066 + 25239838 25239919 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033812 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003353 HBII-52-38 snorna ENSG00000201907 HGNC:33057 PROVISIONAL 1606602 SNORD115-37 small nucleolar RNA, C/D box 115-37 15 15 15 q11.2 3645157 3645238 + 25483133 25483214 + 25237986 25238067 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033811 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003352 HBII-52-37 snorna ENSG00000200638 HGNC:33056 PROVISIONAL 1604089 SNORD115-4 small nucleolar RNA, C/D box 115-4 15 15 15 q11.2 3583991 3584072 + 25421979 25422060 + 25176832 25176913 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033441 ABBA01001014;AC124303;AF250841;AMYH02030094;NG_002690;NR_003296 HBII-52-4 snorna ENSG00000200680 HGNC:33023 PROVISIONAL 1606600 SNORD115-39 small nucleolar RNA, C/D box 115-39 15 15 15 q11.2 3648917 3648998 + 25486893 25486974 + 25241746 25241827 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033813 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003354 HBII-52-39 snorna ENSG00000200564 HGNC:33058 PROVISIONAL 1606599 SNORD115-40 small nucleolar RNA, C/D box 115-40 INTERACTS WITH cadmium atom 15 15 15 q11.2 3650785 3650866 + 25488761 25488842 + 25243614 25243695 + 6480464 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033814 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003355 HBII-52-40 snorna ENSG00000272460 HGNC:33059 PROVISIONAL 1606598 SNORD115-41 small nucleolar RNA, C/D box 115-41 15 15 15 q11.2 3652649 3652730 + 25490625 25490706 + 25245478 25245559 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033815 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003356 HBII-52-41 snorna ENSG00000200478 HGNC:33060 PROVISIONAL 1606597 SNORD115-42 small nucleolar RNA, C/D box 115-42 INTERACTS WITH cadmium atom 15 15 15 q11.2 3654516 3654597 + 25492492 25492573 + 25247345 25247426 + 6480464 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033816 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003357 HBII-52-42 snorna ENSG00000201143 HGNC:33061 PROVISIONAL 1606595 SNORD115-44 small nucleolar RNA, C/D box 115-44 15 15 15 q11.2 3658030 3658111 + 25496006 25496087 + 25250859 25250940 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033818 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003359 HBII-52-44 snorna ENSG00000202261 HGNC:33063 PROVISIONAL 6481499 SNORD115-46 small nucleolar RNA, C/D box 115-46 q11.2 11106375;11726556 100873857 AC100774;NR_047033 HBII-52-46 snorna HGNC:42798 PROVISIONAL 1606596 SNORD115-43 small nucleolar RNA, C/D box 115-43 15 15 15 q11.2 3656369 3656450 + 25494345 25494426 + 25249198 25249279 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033817 ABBA01048691;AC124303;AF250841;AMYH02030094;NG_002690;NR_003358 HBII-52-43 snorna ENSG00000202373 HGNC:33062 PROVISIONAL 1606592 SNORD115-48 small nucleolar RNA, C/D box 115-48 15 15 15 q11.2 3676954 3677029 + 25514930 25515005 + 25269783 25269858 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033822 ABBA01048691;AC100774;AF250841;AMYH02030094;NG_002690;NR_003362 1767093;2146176 1084;D15S164E HBII-52-48 snorna ENSG00000201634 HGNC:33343 PROVISIONAL 1604088 SNORD115-5 small nucleolar RNA, C/D box 115-5 15 15 15 q11.2 3585897 3585978 + 25423885 25423966 + 25178738 25178819 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033442 ABBA01001014;AC124303;AF250841;AMYH02030094;NG_002690;NR_003297 HBII-52-5 snorna ENSG00000200503 HGNC:33024 PROVISIONAL 1604087 SNORD115-6 small nucleolar RNA, C/D box 115-6 INTERACTS WITH cadmium atom 15 15 15 q11.2 3587656 3587737 + 25425644 25425725 + 25180497 25180578 + 6480464 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033443 ABBA01001013;AC124303;AF250841;AMYH02030094;NG_002690;NR_003298 HBII-52-6 snorna ENSG00000200812 HGNC:33025 PROVISIONAL 1604085 SNORD115-8 small nucleolar RNA, C/D box 115-8 15 15 15 q11.2 3591465 3591546 + 25429453 25429534 + 25184306 25184387 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033445 ABBA01001013;AC124303;AF250841;AMYH02030094;NG_002690;NR_003300 HBII-52-8 snorna ENSG00000200726 HGNC:33027 PROVISIONAL 1604117 SNORD116-1 small nucleolar RNA, C/D box 116-1 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3458596 3458692 + 25296625 25296718 + 25051478 25051571 + 6480464 11106375;11726556;19446021;20301505;22751105 100033413 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003316 HBII-85-1;PWCR1 snorna ENSG00000207063 HGNC:33067 605436 PROVISIONAL 1604084 SNORD115-9 small nucleolar RNA, C/D box 115-9 15 15 15 q11.2 3592790 3592871 + 25430778 25430859 + 25185631 25185712 + 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033446 ABBA01017984;AC124303;AF250841;AMYH02030094;NG_002690;NR_003301 HBII-52-9 snorna ENSG00000199782 HGNC:33028 PROVISIONAL 1604108 SNORD116-10 small nucleolar RNA, C/D box 116-10 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3481231 3481334 + 25319260 25319363 + 25074113 25074216 + 6480464 11106375;11726556;19446021 100033422 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003325 HBII-85-10 snorna ENSG00000200661 HGNC:33076 PROVISIONAL 1604086 SNORD115-7 small nucleolar RNA, C/D box 115-7 INTERACTS WITH dioxygen 15 15 15 q11.2 3589544 3589625 + 25427532 25427613 + 25182385 25182466 + 6480464 11106375;11726556;12045206;15565282;15939761;16357227;19446021 100033444 ABBA01001013;AC124303;AF250841;AMYH02030094;NG_002690;NR_003299 HBII-52-7 snorna ENSG00000278089 HGNC:33026 PROVISIONAL 5483728 SNORD115-45 small nucleolar RNA, C/D box 115-45 15 15 15 q11.2 3671698 3671750 + 25509674 25509726 + 25264527 25264579 + 11106375;11726556 100036566 ABBA01048691;AC100774;AMYH02030094;NG_002690;NR_003498 HBII-52-45;SNORD115-48 snorna HGNC:33064 PROVISIONAL 5483724 SNORD115-47 small nucleolar RNA, C/D box 115-47 15 15 15 q11.2 3675688 3675720 + 25513664 25513696 + 25268517 25268549 + 11106375;11726556 100036567 ABBA01048691;AC100774;AMYH02030094;NG_002690;NR_003499 HBII-52-46;HBII-52-47 snorna HGNC:33065 PROVISIONAL 1604107 SNORD116-11 small nucleolar RNA, C/D box 116-11 INTERACTS WITH dioxygen; propofol (ortholog) 15 15 15 q11.2 3483046 3483139 + 25321075 25321168 + 25075928 25076021 + 6480464 11106375;11726556;19446021 100033423 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003326 HBII-85-11 snorna ENSG00000206609 HGNC:33077 PROVISIONAL 1604106 SNORD116-12 small nucleolar RNA, C/D box 116-12 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3484168 3484261 + 25322197 25322290 + 25077050 25077143 + 6480464 11106375;11726556;19446021 100033424 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003327 HBII-85-12 snorna ENSG00000207197 HGNC:33078 PROVISIONAL 1604105 SNORD116-13 small nucleolar RNA, C/D box 116-13 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3486175 3486268 + 25324204 25324297 + 25079057 25079150 + 6480464 11106375;11726556;19446021 100033425 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003328 HBII-85-13 snorna ENSG00000207137 HGNC:33079 PROVISIONAL 1604103 SNORD116-15 small nucleolar RNA, C/D box 116-15 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3488404 3488497 + 25326433 25326526 + 25081286 25081379 + 6480464 11106375;11726556;19446021 100033427 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003330 HBII-85-15 snorna ENSG00000207174 HGNC:33081 PROVISIONAL 1604102 SNORD116-16 small nucleolar RNA, C/D box 116-16 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3489885 3489978 + 25327914 25328007 + 25082767 25082860 + 6480464 11106375;11726556;19446021 100033428 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003331 HBII-85-16 snorna ENSG00000207263 HGNC:33082 PROVISIONAL 1604100 SNORD116-18 small nucleolar RNA, C/D box 116-18 INTERACTS WITH paracetamol; propofol (ortholog) 15 15 15 q11.2 3492502 3492595 + 25330531 25330624 + 25085384 25085477 + 6480464 11106375;11726556;19446021;22751105 100033430 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003333 HBII-85-18 snorna ENSG00000206688 HGNC:33084 PROVISIONAL 1604101 SNORD116-17 small nucleolar RNA, C/D box 116-17 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3490705 3490798 + 25328734 25328827 + 25083587 25083680 + 6480464 11106375;11726556;19446021 100033429 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003332 HBII-85-17 snorna ENSG00000206656 HGNC:33083 PROVISIONAL 1604116 SNORD116-2 small nucleolar RNA, C/D box 116-2 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3461329 3461425 + 25299356 25299452 + 25054209 25054305 + 6480464 11106375;11726556;19446021 100033414 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003317 HBII-85-2 snorna ENSG00000207001 HGNC:33068 PROVISIONAL 1604098 SNORD116-21 small nucleolar RNA, C/D box 116-21 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3495921 3496014 + 25333950 25334043 + 25088803 25088896 + 6480464 11106375;11726556;19446021 100033432 AC124312;AMYH02030094;NG_002690;NR_003335 1769478 RH44910 HBII-85-21 snorna ENSG00000277785 HGNC:33087 PROVISIONAL 1604119 SNORD116-19 small nucleolar RNA, C/D box 116-19 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3493644 3493737 + 25331673 25331765 + 25086526 25086618 + 6480464 11106375;11726556;19446021 727708 ABBA01048689;AC124312;AF250841;AMYH02030094;NG_002690;NR_001290 1769478 RH44910 HBII-85-19 snorna ENSG00000207460 HGNC:33085 VALIDATED 1604099 SNORD116-20 small nucleolar RNA, C/D box 116-20 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3494779 3494872 + 25332808 25332901 + 25087661 25087754 + 6480464 11106375;11726556;19446021 100033431 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003334 1769478 RH44910 HBII-85-20 snorna ENSG00000278715 HGNC:33086 PROVISIONAL 1604096 SNORD116-23 small nucleolar RNA, C/D box 116-23 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3498903 3498996 + 25336932 25337025 + 25091785 25091878 + 6480464 11106375;11726556;19446021 100033434 ABBA01048690;AC124312;AMYH02030094;NG_002690;NR_003337 2220378 UniSTS:480915 HBII-85-23 snorna ENSG00000207375 HGNC:33089 PROVISIONAL 1604095 SNORD116-24 small nucleolar RNA, C/D box 116-24 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3501154 3501247 + 25339183 25339276 + 25094036 25094129 + 6480464 11106375;11726556;19446021;22751105 100033435 ABBA01048690;AC124312;AMYH02030094;NG_002690;NR_003338 HBII-85-24 snorna ENSG00000207279 HGNC:33090 PROVISIONAL 1604092 SNORD116-26 small nucleolar RNA, C/D box 116-26 15 15 15 q11.2 3506615 3506712 + 25344645 25344742 + 25099498 25099595 + 11106375;11726556;19446021 100033438 ABBA01048690;AC124312;AMYH02030094;NG_002690;NR_003340 1705888;1751459 SHGC-105287;SHGC-81208 HBII-85-26 snorna ENSG00000251815 HGNC:33092 PROVISIONAL 1604097 SNORD116-22 small nucleolar RNA, C/D box 116-22 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3497040 3497133 + 25335069 25335162 + 25089922 25090015 + 6480464 11106375;11726556;19446021;22751105 100033433 ABBA01048690;AC124312;AMYH02030094;NG_002690;NR_003336 1769478 RH44910 HBII-85-22 snorna ENSG00000275127 HGNC:33088 PROVISIONAL 1604091 SNORD116-27 small nucleolar RNA, C/D box 116-27 15 15 15 q11.2 3508691 3508784 + 25346721 25346814 + 25101574 25101667 + 11106375;11726556;19446021 100033439 ABBA01048690;AC124312;AF250841;AMYH02030094;NG_002690;NR_003341 HBII-85-27 snorna ENSG00000251896 HGNC:33093 PROVISIONAL 1604104 SNORD116-14 small nucleolar RNA, C/D box 116-14 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3487259 3487352 + 25325288 25325381 + 25080141 25080234 + 6480464 11106375;11726556;19446021 100033426 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003329 HBII-85-14 snorna ENSG00000206621 HGNC:33080 PROVISIONAL 1604115 SNORD116-3 small nucleolar RNA, C/D box 116-3 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3463979 3464075 + 25302006 25302102 + 25056859 25056955 + 6480464 11106375;11726556;19446021 100033415 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003318 HBII-85-3 snorna ENSG00000207014 HGNC:33069 PROVISIONAL 1606594 SNORD116-28 small nucleolar RNA, C/D box 116-28 INTERACTS WITH dioxygen 15 15 15 q11.2 3511759 3511851 + 25349788 25349880 + 25104641 25104733 + 6480464 11106375;11726556;19446021 100033820 ABBA01048690;AC124312;AF250841;AMYH02030094;NG_002690;NR_003361 HBII-85-28 snorna ENSG00000278123 HGNC:33347 PROVISIONAL 1606593 SNORD116-29 small nucleolar RNA, C/D box 116-29 15 15 15 q11.2 3513638 3513722 + 25351667 25351751 + 25106520 25106604 + 11106375;11726556;19446021;22751105 100033821 ABBA01048690;AC124303;AF250841;AMYH02030094;NG_002690;NR_003360 HBII-85-29 snorna ENSG00000207245 HGNC:33348 PROVISIONAL 6481496 SNORD116-30 small nucleolar RNA, C/D box 116-30 q11.2 11106375;11726556 100873856 AC124303;NR_047032 HBII-85-30 snorna HGNC:42797 PROVISIONAL 1604113 SNORD116-5 small nucleolar RNA, C/D box 116-5 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3469450 3469546 + 25307479 25307575 + 25062332 25062428 + 6480464 11106375;11726556;19446021 100033417 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003320 HBII-85-5 snorna ENSG00000207191 HGNC:33071 PROVISIONAL 1604114 SNORD116-4 small nucleolar RNA, C/D box 116-4 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3466655 3466752 + 25304684 25304781 + 25059537 25059634 + 6480464 11106375;11726556;19446021 100033416 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003319 HBII-85-4 snorna ENSG00000275529 HGNC:33070 PROVISIONAL 1604112 SNORD116-6 small nucleolar RNA, C/D box 116-6 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3472143 3472240 + 25310172 25310269 + 25065025 25065122 + 6480464 11106375;11726556;19446021 100033418 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003321 HBII-85-6 snorna ENSG00000207442 HGNC:33072 PROVISIONAL 1604110 SNORD116-8 small nucleolar RNA, C/D box 116-8 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3477549 3477645 + 25315578 25315674 + 25070431 25070527 + 6480464 11106375;11726556;19446021 100033420 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003323 HBII-85-8 snorna ENSG00000207093 HGNC:33074 PROVISIONAL 1604109 SNORD116-9 small nucleolar RNA, C/D box 116-9 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3480224 3480320 + 25318253 25318349 + 25073106 25073202 + 6480464 11106375;11726556;19446021 100033421 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003324 HBII-85-9 snorna ENSG00000206727 HGNC:33075 PROVISIONAL 1604111 SNORD116-7 small nucleolar RNA, C/D box 116-7 INTERACTS WITH propofol (ortholog) 15 15 15 q11.2 3474905 3475001 + 25312934 25313030 + 25067787 25067883 + 6480464 11106375;11726556;19446021 100033419 ABBA01048689;AC124312;AMYH02030094;NG_002690;NR_003322 HBII-85-7 snorna ENSG00000207133 HGNC:33073 PROVISIONAL 1602350 SNORD117 small nucleolar RNA, C/D box 117 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsenite(3-); dioxygen 6 6 6 p21.33 33102388 33102463 - 31504151 31504226 - 31536374 31536449 - 6480464;8554872 10684929;19446021;21912425 692233 ABBA01038080;AJ243200;AL662801;AL662847;AMYH02013452;BX001040;BX248516;BX927320;CR753820;CR753864;CT009531;NR_003140 U83 snorna HGNC:32742 PROVISIONAL 1626535 SNORD119 small nucleolar RNA, C/D box 119 20 20 20 p13 2508043 2508138 - 2443598 2443693 - 2462952 2463047 - 16990247;19446021 100113378 ABBA01053790;AL049650;AMYH02036581;NR_003684 5491649 MARC_5069-5070:996690109:1 snorna HGNC:33558 PROVISIONAL 1602749 SNORD12 small nucleolar RNA, C/D box 12 20 20 20 q13.13 44601825 44601914 + 47897220 47897309 + 49280683 49280772 + 11387227;19446021 692057 ABBA01052741;AL049766;AMYH02037210;NR_003030 HBII-99;MIR1259;MIRN1259 snorna ENSG00000212304 HGNC:32708 PROVISIONAL 1626534 SNORD121A small nucleolar RNA, C/D box 121A 9 9 9 p13.3 33884551 33884641 - 33952762 33952852 - 33952764 33952854 - 16990247;19446021 100113379 ABBA01065034;AL139113;AMYH02019431;NR_003685 snorna HGNC:33560 PROVISIONAL 1626523 SNORD11B small nucleolar RNA, C/D box 11B 2 2 2 q33.1 196907943 196908054 + 203156040 203156151 + 202291317 202291428 + 16990247;19446021 100113392 ABBA01062559;AC064836;AMYH02005561;NR_003694 Hs.693442 snorna HGNC:33571 PROVISIONAL 1626528 SNORD121B small nucleolar RNA, C/D box 121B 9 9 9 p13.3 33866087 33866179 + 33934295 33934373 - 33934297 33934375 - 16990247;19446021 101340252 ABBA01065035;AL139113;AMYH02019429;NR_102370 snorna HGNC:33569 VALIDATED 1626529 SNORD123 small nucleolar RNA, C/D box 123 INTERACTS WITH silicon dioxide; arsenite(3-) (ortholog); succimer (ortholog) 5 5 5 p15.2 9589251 9589338 + 9548939 9549026 + 9548827 9548914 + 6480464 14702039;16990247;19446021 100113384 ABBA01020592;AC034214;AMYH02010840;NG_016410;NR_003689 1652654;1670732;1685019;1721355;5093710 A009V21;G32878;G59677;RH45251;RH93727 snorna HGNC:33562 VALIDATED 1626525 SNORD124 small nucleolar RNA, C/D box 124 17 17 17 q21.1 34843858 34843961 + 38183795 38183898 - 40027542 40027645 - 16990247;19446021;21738480 101340251 ABBA01031850;AC102799;AMYH02033391;NR_102369 snorna HGNC:33563 VALIDATED 1626533 SNORD125 small nucleolar RNA, C/D box 125 ASSOCIATED WITH Melanoma (inferred) 22 22 22 q12.2 13529008 13529103 - 29729152 29729247 - 29333163 29333258 - 8554872 16990247;19446021 100113380 ABBA01055261;AC002059;AMYH02038199;NR_003686 snorna HGNC:33564 PROVISIONAL 1626524 SNORD126 small nucleolar RNA, C/D box 126 14 14 14 q11.2 655747 655845 - 20794600 20794698 - 20326441 20326539 - 16990247;19272437;19446021 100113391 ABBA01061225;AL355075;AMYH02028820;NR_003693 1764671 SHGC-148260 MIR1201;MIRN1201 snorna HGNC:33565 PROVISIONAL 1626522 SNORD12B small nucleolar RNA, C/D box 12B 20 20 20 q13.13 44601455 44601557 + 47896850 47896952 + 49280313 49280415 + 16990247;19446021 100113393 ABBA01052741;AL049766;AMYH02037210;NR_003695 Hs.711216 snorna ENSG00000222365 HGNC:33573 PROVISIONAL 1602330 SNORD12C small nucleolar RNA, C/D box 12C INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 20 20 20 q13.13 44600087 44600165 + 47895482 47895560 + 49278945 49279023 + 6480464 14602913;19446021;8415643 26765 ABBA01052741;AL049766;AMYH02037210;AY349607;NR_002433 E2;E2-1;E3;RNU106;SNORD106;U106 snorna ENSG00000209042 HGNC:10105 PROVISIONAL 1626526 SNORD127 small nucleolar RNA, C/D box 127 14 14 14 q21.3 25441331 25441431 + 45580078 45580178 + 45110875 45110975 + 16990247;19446021 100113389 ABBA01018049;AL121809;AMYH02029101;NR_003691 Hs.712501 snorna HGNC:33555 PROVISIONAL 1346573 SNORD13P1 small nucleolar RNA, C/D box 13 pseudogene 1 22 22 q13.2 26278265 26278367 - 42472063 42472165 - 15574332;1748306 6076 NG_008259;X58061;Z99716 RNU13P1;U13;U13.32A APPROVED pseudo HGNC:10110 INFERRED 1344331 SNORD13P2 small nucleolar RNA, C/D box 13 pseudogene 2 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 7 7 7 p22.1 4688707 4688911 + 4729060 4729264 + 4689429 4689633 + 6480464 1748306;9847074 6077 ABBA01039429;AC072054;AMYH02015120;NG_008260;X58060 RNU13P2;U13;U13.12A APPROVED pseudo HGNC:10111 INFERRED 1602742 SNORD13 small nucleolar RNA, C/D box 13 INTERACTS WITH hydrogen peroxide 8 8 8 p12 32320698 32320801 + 33370993 33371096 + 33513475 33513578 + 6480464 19446021;2247610;2531075;8721999;8973634 692084 ABBA01023609;AC091144;AMYH02017768;NG_033257;NR_003041 RNU13;U13 snorna ENSG00000239039 HGNC:32711 PROVISIONAL 1354215 SNORD14A small nucleolar RNA, C/D box 14A 11 11 11 p15 17224090 17224181 - 17096200 17096291 - 17074653 17074744 - 19446021;8920921 26822 AC116533;AMYH02024378;D88010;NR_000022 RNU14;RNU14A;U14;U14-S13-5 snorna HGNC:10113 PROVISIONAL 1604094 SNORD116-25 small nucleolar RNA, C/D box 116-25 15 15 15 q11.2 3504779 3504872 + 25342809 25342902 + 25097662 25097755 + 11106375;11726556;19446021 100033436 ABBA01048690;AC124312;AMYH02030094;NG_002690;NR_003339 HBII-85-25 snorna ENSG00000252326 HGNC:33091 PROVISIONAL 1353610 SNORD13P3 small nucleolar RNA, C/D box 13 pseudogene 3 3 3 3 p21.31 47230626 47230727 - 47292015 47292116 - 47250525 47250626 - 1748306 6078 ABBA01024699;AC104447;AMYH02006685;NG_008261;X58062 RNU13P3;U13;U13.4B APPROVED pseudo HGNC:10112 INFERRED 1351969 SNORD14B small nucleolar RNA, C/D box 14B 11 11 11 p15 17225215 17225305 - 17097325 17097415 - 17075778 17075868 - 19446021;8920921 85388 ABBA01061070;AC116533;AMYH02024378;D88010;NR_001452 RNU14B;U14;U14B snorna HGNC:31803 PROVISIONAL 2859191 SNORD118 small nucleolar RNA, C/D box 118 17 17 17 p13.1 8105024 8105159 - 8076771 8076906 - 8173453 8173588 - 6480464 15574332;19446021;2411727;2531075 727676 AC129492;AMYH02032922;NR_033294 2115345 D17S2157 U8 snorna ENSG00000200463 HGNC:32952 VALIDATED 1343552 SNORD15A small nucleolar RNA, C/D box 15A INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; potassium chromate 11 11 11 q13.4 72419186 72419333 + 75111435 75111582 + 75400391 75400538 + 6480464 19446021;7789996;8319909 6079 ABBA01017466;AMYH02025118;AP000744;L15616;L16016;NR_000005 Hs.689081 RNU15A;U15A SNORNA snorna HGNC:10114 600455 VALIDATED 1352212 SNORD15B small nucleolar RNA, C/D box 15B 11 11 11 q13.4 72423216 72423361 + 75115465 75115610 + 75404421 75404566 + 6480464 11943484;19446021;7789996;8319909 114599 ABBA01017466;AF281313;AMYH02025118;AP000744;L15557;NR_000025 Hs.689080 RNU15B;U15B snorna HGNC:16649 PROVISIONAL 2798060 SNORD14E small nucleolar RNA, C/D box 14E INTERACTS WITH dasatinib (anhydrous); melphalan 11 11 11 q23.3-q25 120088114 120088193 - 122928785 122928864 - 123058077 123058156 - 6480464 2251119;3037489;7545947 85391 ABBA01031277;AMYH02025709;AP000926;NG_029473;NR_003125;Y00371 1684136;2116590 RH27394;WI-12733 snorna HGNC:30354 VALIDATED 1602022 SNORD16 small nucleolar RNA, C/D box 16 15 15 15 q22 43684495 43684594 - 66795149 66795248 - 66502811 66502910 - 11875025;19446021;8335006;8674114 595097 AB061820;ABBA01038819;AC116913;AMYH02030649;NR_002440 Hs.739034 U16 snorna HGNC:32712 PROVISIONAL 1602740 SNORD17 small nucleolar RNA, C/D box 17 20 20 20 p11.23 18017899 18018135 - 17943353 17943589 - 17962710 17962946 - 11387227;19446021 692086 ABBA01054034;AL121585;AMYH02036773;NR_003045 Hs.680747 HBI-43 snorna HGNC:32713 PROVISIONAL 1602021 SNORD18A small nucleolar RNA, C/D box 18A 15 15 15 q22 43684929 43684998 - 66795583 66795652 - 66503245 66503314 - 11875025;19446021;7507233;8674114 595098 AB061820;ABBA01038819;AC116913;AMYH02030649;NR_002441 U18A snorna HGNC:32714 PROVISIONAL 1602737 SNORD19 small nucleolar RNA, C/D box 19 3 3 3 p21.1 52701967 52702042 + 52723256 52723331 + 52689240 52689315 + 11387227;19446021;21926972;22751105;22763110 692089 ABBA01024500;AC104446;AMYH02006812;NG_027871;NG_032108;NR_003047 HBII-108 snorna HGNC:32717 VALIDATED 1602020 SNORD18B small nucleolar RNA, C/D box 18B 15 15 15 q22 43683705 43683774 - 66794360 66794429 - 66502022 66502091 - 11875025;19446021;7507233;8674114 595099 AB061820;ABBA01038819;AC116913;AMYH02030649;NR_002442 U18B snorna HGNC:32715 PROVISIONAL 1601897 SNORD18C small nucleolar RNA, C/D box 18C 15 15 15 q22 43682795 43682861 - 66793590 66793656 - 66501252 66501318 - 11875025;19446021;7507233;8674114 595100 AB061820;ABBA01038819;AC116913;AMYH02030649;NR_002443 U18C snorna HGNC:32716 PROVISIONAL 1626532 SNORD19B small nucleolar RNA, C/D box 19B 3 3 3 p21.1 52703465 52703557 + 52724754 52724846 + 52690738 52690830 + 16990247;19446021;21926972 100113381 ABBA01024500;AC104446;AMYH02006812;NG_027871;NG_032108;NR_003687 snorna HGNC:33570 VALIDATED 1602548 SNORD1B small nucleolar RNA, C/D box 1B 17 17 17 q25.1 71149529 71149614 + 74557190 74557275 + 76561108 76561193 + 6480464 14960365;19446021 677849 ABBA01028738;AC015802;AJ543325;AMYH02034015;NR_004396 R38B;snR38B snorna ENSG00000199961 HGNC:32676 PROVISIONAL 1602547 SNORD1C small nucleolar RNA, C/D box 1C INTERACTS WITH bis(2-ethylhexyl) phthalate (ortholog) 17 17 17 q25.1 71147213 71147290 + 74554874 74554951 + 76558792 76558869 + 6480464 14960365;19446021;22751105 677850 ABBA01028738;AC015802;AJ543326;AMYH02034015;NR_004397 R38C;snR38C snorna ENSG00000274091 HGNC:32677 PROVISIONAL 1602549 SNORD1A small nucleolar RNA, C/D box 1A INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 17 17 17 q25.1 71150054 71150127 + 74557715 74557788 + 76561633 76561706 + 6480464 14960365;19446021 677848 ABBA01028738;AC015802;AJ543324;AMYH02034015;NR_004395 1698056 RH102560 R38A;snR38A snorna ENSG00000278261 HGNC:32556 PROVISIONAL 1602241 SNORD2 small nucleolar RNA, C/D box 2 3 3 3 q27 184938747 184938816 + 186502585 186502654 + 186784796 186784865 + 14960365;19446021;24105470 619567 ABBA01058381;AC112907;AMYH02008350;NR_002587 R39B;SNR39B snorna HGNC:32678 PROVISIONAL 1351179 SNORD20 small nucleolar RNA, C/D box 20 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 2 2 2 q37.1 226097508 226097587 - 232321155 232321234 - 231456444 231456523 - 6480464 19446021;2394707;8065311 6082 ABBA01002057;AC017104;AMYH02005969;NR_002908;Z34290 1679593;1713497;5017595 NCL;RH120232;RH65048 RNU20;U20 snorna HGNC:10143 604012 PROVISIONAL 1352254 SNORD21 small nucleolar RNA, C/D box 21 This gene encodes a small nucleolar RNA (snoRNA) that may be involved in biogenesis of the large (28S) ribosomal subunit. This gene is found within an intron of the RPL5 gene. [provided by RefSeq, Mar 2009] 1 1 1 p22.1 91556438 91556532 + 93302846 93302940 + 92837289 92837383 + 6480464 19446021;22268729;7937132 6083 ABBA01045531;AL162740;AMYH02001489;NG_011779;NG_033051;NR_000006;Z35312 1707184 SHGC-79177 RNU21;U21 APPROVED snorna HGNC:10144 603635 REVIEWED 1602735 SNORD23 small nucleolar RNA, C/D box 23 19 19 19 q13.32 45064811 45064920 + 48259110 48259219 + 47755853 47755962 + 11387227;19446021 692091 ABBA01041056;AC008745;AMYH02036270;NR_003048 Hs.745561 1682708 RH91488 HBII-115 snorna HGNC:32718 PROVISIONAL 1344519 SNORD22 small nucleolar RNA, C/D box 22 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-fluorouracil; arsenous acid; crotonaldehyde 11 11 11 q13 59943778 59943903 - 62620382 62620507 - 62852910 62853035 - 6480464;8554872 19446021;7985025;8559254;9387929 9304 ABBA01003246;AMYH02024901;AP001160;L36588;NR_000008;U40580 Hs.744737 1792336 PMC14794P1 RNU22;U22 snorna ENSG00000277194 HGNC:10145 603223 VALIDATED 2798088 SNORD14C small nucleolar RNA, C/D box 14C 11 11 11 q23.3-q25 120089372 120089459 - 122930043 122930130 - 123059335 123059422 - 2251119;3037489;7545947 85389 ABBA01031277;AMYH02025709;AP000926;NG_029473;NR_001453;Y00371 snorna HGNC:30352 VALIDATED 1346154 SNORD25 small nucleolar RNA, C/D box 25 ASSOCIATED WITH Melanoma (inferred) 11 11 11 q13 59946433 59946499 - 62623037 62623103 - 62855565 62855631 - 8554872 19446021;8559254;9387929 9303 ABBA01003246;AF081279;AMYH02024901;AP001160;NR_002565;U40580 2132004 AF081279 RNU25;U25 snorna ENSG00000275043 HGNC:10147 603224 PROVISIONAL 1349393 SNORD24 small nucleolar RNA, C/D box 24 9 9 9 q34 106766737 106766811 + 136216251 136216325 + 133349396 133349470 + 19446021;22268729;7651828;8482538;8674114;9703018 26820 ABBA01032461;AC002107;AL158826;AL772161;AMYH02021827;NR_002447;Z48764;Z48765 1852786 RP_L7A RNU24;U24 snorna HGNC:10146 VALIDATED 2798093 SNORD14D small nucleolar RNA, C/D box 14D 11 11 11 q23.3-q25 120088946 120089032 - 122929617 122929703 - 123058909 123058995 - 2251119;3037489;7545947 85390 ABBA01031277;AMYH02025709;AP000926;NG_029473;NR_001454;Y00371 snorna HGNC:30353 VALIDATED 1348733 SNORD26 small nucleolar RNA, C/D box 26 ASSOCIATED WITH Melanoma (inferred) 11 11 11 q13 59946160 59946234 - 62622764 62622838 - 62855292 62855366 - 8554872 19446021;8559254;9387929 9302 ABBA01003246;AMYH02024901;AP001160;NR_002564;U40580 2132004 AF081279 RNU26;U26 snorna ENSG00000276788 HGNC:10148 603225 PROVISIONAL 1352918 SNORD27 small nucleolar RNA, C/D box 27 ASSOCIATED WITH Melanoma (inferred) 11 11 11 q13 59945880 59945951 - 62622484 62622555 - 62855012 62855083 - 8554872 19446021;8559254;9387929 9301 ABBA01003246;AMYH02024901;AP001160;NR_002563;U40580 2132004 AF081279 RNU27;U27 snorna ENSG00000275996 HGNC:10149 603226 PROVISIONAL 1346054 SNORD29 small nucleolar RNA, C/D box 29 ASSOCIATED WITH Melanoma (inferred) 11 11 11 q13 59944772 59944836 - 62621376 62621440 - 62853904 62853968 - 8554872 19446021;8559254;9387929 9297 ABBA01003246;AMYH02024901;AP001160;NR_002559;U40580 RNU29;U29 snorna HGNC:10151 603228 PROVISIONAL 1343428 SNORD28 small nucleolar RNA, C/D box 28 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 11 11 11 q13 59945489 59945563 - 62622093 62622167 - 62854621 62854695 - 6480464;8554872 19446021;8559254;9387929 9300 ABBA01003246;AMYH02024901;AP001160;NR_002562;U40580 2132004 AF081279 RNU28;U28 snorna ENSG00000274544 HGNC:10150 603227 PROVISIONAL 1350784 SNORD31 small nucleolar RNA, C/D box 31 ASSOCIATED WITH Melanoma (inferred) 11 11 11 q13 59944194 59944261 - 62620798 62620865 - 62853326 62853393 - 8554872 19446021;8559254;9387929 9298 ABBA01003246;AMYH02024901;AP001160;NR_002560;U40580 1792336 PMC14794P1 RNU31;U31 snorna HGNC:10158 603230 PROVISIONAL 1349433 SNORD30 small nucleolar RNA, C/D box 30 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; dasatinib (anhydrous); potassium chromate 11 11 11 q13 59944531 59944600 - 62621135 62621204 - 62853663 62853732 - 6480464;8554872 19446021;8559254;9387929 9299 ABBA01003246;AMYH02024901;AP001160;NR_002561;U40580 RNU30;U30 snorna ENSG00000277846 HGNC:10157 603229 PROVISIONAL 1348219 SNORD33 small nucleolar RNA, C/D box 33 19 19 19 q13.3 46863197 46863279 + 49993874 49993956 + 49490617 49490699 + 10580157;19446021;8764399 26818 AB028893;ABBA01032924;AC010619;AMYH02036317;NR_000020;X94599 RNU33;U33 snorna HGNC:10160 PROVISIONAL 1342801 SNORD32A small nucleolar RNA, C/D box 32A INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.3 46862546 46862627 + 49993223 49993304 + 49489966 49490047 + 6480464 10580157;19446021;8764399 26819 AB028893;ABBA01032924;AC010619;AMYH02036317;NR_000021;X94598 RNU32;U32;U32A snorna HGNC:10159 PROVISIONAL 1602734 SNORD32B small nucleolar RNA, C/D box 32B INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 p22.1 31156118 31156194 + 29550029 29550105 + 29582252 29582328 + 6480464 19446021;8764399 692092 ABBA01038033;AL645936;AL662826;AMYH02013412;BX000688;BX927223;CR759766;CR759870;CR788300;NR_003049 U32B snorna ENSG00000201330 HGNC:32719 PROVISIONAL 1346245 SNORD35B small nucleolar RNA, C/D box 35B 19 19 19 q13.3 46870317 46870404 + 50000976 50001063 + 49497719 49497806 + 10580157;19446021;20139978;21909109;23022100 84546 AB028893;ABBA01032923;AC010619;AMYH02036319;NR_001285 2152977;5094709 MARC_4679-4680:996679598:1;RH66611 RNU35B;U35B snorna HGNC:17365 PROVISIONAL 1353609 SNORD35A small nucleolar RNA, C/D box 35A 19 19 19 q13.3 46863755 46863840 + 49994432 49994517 + 49491175 49491260 + 10580157;19446021;8764399 26816 AB028893;ABBA01032924;AC010619;AMYH02036317;NR_000018;X94601 RNU35;RNU35A;U35 snorna HGNC:10162 PROVISIONAL 1350805 SNORD34 small nucleolar RNA, C/D box 34 19 19 19 q13.3 46863487 46863552 + 49994164 49994229 + 49490907 49490972 + 10580157;19446021;8764399 26817 AB028893;ABBA01032924;AC010619;AMYH02036317;NR_000019;X94600 RNU34;U34 snorna HGNC:10161 PROVISIONAL 1352325 SNORD36A small nucleolar RNA, C/D box 36A 9 9 9 q34 106767797 106767868 + 136217311 136217382 + 133350456 133350527 + 19446021;22268729;8764399;9703018 26815 ABBA01032461;AC002107;AJ003040;AL158826;AL593848;AL772161;AMYH02021827;NG_008477;NR_002448;X97584 1852786 RP_L7A RNU36A;U36a snorna HGNC:10163 VALIDATED 1347255 SNORD36C small nucleolar RNA, C/D box 36C 9 9 9 q34 106768187 106768254 + 136217701 136217768 + 133350846 133350913 + 19446021;22268729;8764399;9703018 26813 ABBA01032461;AC002107;AJ003041;AL158826;AL593848;AMYH02021827;NG_008477;NR_000016;X97587 1852786 RP_L7A RNU36C;U36c snorna HGNC:10165 VALIDATED 1350667 SNORD36B small nucleolar RNA, C/D box 36B INTERACTS WITH paracetamol 9 9 9 q34 106767435 106767505 + 136216949 136217019 + 133350094 133350164 + 6480464 19446021;22268729;8764399;9703018 26814 ABBA01032461;AC002107;AJ003039;AL158826;AL772161;AMYH02021827;NG_008477;NR_000017 1852786 RP_L7A RNU36B;U36b snorna HGNC:10164 VALIDATED 1352874 SNORD37 small nucleolar RNA, C/D box 37 19 19 19 p13.3 3918580 3918645 - 3982505 3982570 - 3982507 3982572 - 19446021;8764399 26812 ABBA01002861;AC011488;AMYH02035269;NR_002602;X94602 1734648 D19S643E RNU37;U37 snorna HGNC:10166 PROVISIONAL 1342819 SNORD38A small nucleolar RNA, C/D box 38A INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 1 1 1 p34.1 43526401 43526471 + 45243514 45243584 + 44777842 44777912 + 6480464 19446021;8764399 94162 ABBA01050909;AL592166;AMYH02000918;NR_001456;X67247 RNU38A;U38A snorna HGNC:30355 PROVISIONAL 1346070 SNORD38B small nucleolar RNA, C/D box 38B INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 1 1 1 p34.1 43526949 43527017 + 45244062 45244130 + 44778390 44778458 + 6480464 19446021;8764399 94163 ABBA01050909;AL592166;AMYH02000918;NR_001457;X67247 2182395;7185033 D1S1544 RNU38B;U38B snorna HGNC:30356 PROVISIONAL 2289762 SNORD3C small nucleolar RNA, C/D box 3C INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin 14 17 17 p11.2 65782645 65782713 + 19093342 19093558 - 19190029 19190245 - 6480464 22751105;2531075;9365252 780853 AC106017;AMYH02033154;NR_006881 U3-3 snorna ENSG00000275303 HGNC:33191 PROVISIONAL 1642510 SNORD3B-2 small nucleolar RNA, C/D box 3B-2 19 17 17 p11.2 37418900 37418971 - 18967233 18967449 - 19063920 19064136 - 2531075;9365252 780852 AC007952;AF020535;AF020536;AMYH02033154;NR_003924 U3-2B;U3b2 snorna ENSG00000274088 HGNC:33190 VALIDATED 2289761 SNORD3D small nucleolar RNA, C/D box 3D 19 17 17 p11.2 37418900 37418971 - 19015733 19015949 - 19112420 19112636 - 9365252 780854 AC007952;AMYH02033146;NR_006882 U3-4 snorna ENSG00000277947 HGNC:33192 PROVISIONAL 1344851 SNORD41 small nucleolar RNA, C/D box 41 19 19 19 p13.2 12706976 12707045 - 12817263 12817332 - 12706449 12706518 - 19446021;8674114 26810 ABBA01029779;AC018761;AMYH02035553;NR_002751;X96640 RNU41;U41 snorna HGNC:10179 PROVISIONAL 1354029 SNORD42A small nucleolar RNA, C/D box 42A INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 17 17 17 q11 23909611 23909672 + 27050448 27050509 + 28723430 28723491 + 6480464 19446021;8674114;9417910 26809 ABBA01015048;AC010761;AF001689;AMYH02033227;NR_000014;X96641 RNU42A;U42;U42A snorna HGNC:10180 PROVISIONAL 1351888 SNORD42B small nucleolar RNA, C/D box 42B INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 17 17 17 q11 23906733 23906799 + 27047568 27047634 + 28720550 28720616 + 6480464 19446021;9417910 26808 ABBA01015048;AC010761;AF001689;AJ224023;AMYH02033227;NR_000013 RNU42B;U42B snorna HGNC:10181 PROVISIONAL 1346020 SNORD43 small nucleolar RNA, C/D box 43 Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD43, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD43, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008] 22 22 22 q13 23517173 23517234 - 39715057 39715118 - 39319052 39319113 - 6480464 10684968;19446021;8674114 26807 ABBA01055560;AJ238853;AL022326;AMYH02038377;NR_002439;X96642 1747525 G65387 RNU43;U43 APPROVED snorna HGNC:10182 611068 PROVISIONAL 1342927 SNORD45A small nucleolar RNA, C/D box 45A 1 1 1 p31.1 74493484 74493567 + 76253574 76253657 + 75787889 75787972 + 19446021;8674114 26805 ABBA01074416;AL357314;AMYH02001282;NR_002749;X96644 RNU45A;U45a snorna HGNC:10184 PROVISIONAL 1348712 SNORD44 small nucleolar RNA, C/D box 44 INTERACTS WITH (-)-epigallocatechin 3-gallate; paracetamol; potassium chromate 1 1 1 q25.1 146944575 146944635 - 173835106 173835166 - 173865968 173866028 - 6480464 19446021;8674114 26806 ABBA01027896;AL136170;AMYH02002157;NR_002750;X96643 RNU44;U44 snorna HGNC:10183 VALIDATED 1602741 SNORD45C small nucleolar RNA, C/D box 45C INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 1 1 1 p31.1 74492667 74492744 + 76252757 76252834 + 75787072 75787149 + 6480464 19446021;8674114 692085 ABBA01074416;AL357314;AMYH02001282;NR_003042 U45C snorna HGNC:32720 PROVISIONAL 1351466 SNORD45B small nucleolar RNA, C/D box 45B 1 1 1 p31.1 74495072 74495142 + 76255162 76255232 + 75789477 75789547 + 19446021;8674114 26804 ABBA01074416;AL357314;AMYH02001282;NR_002748;X96645 1680132 RH64622 RNU45B;U45b snorna HGNC:10185 PROVISIONAL 1346025 SNORD46 small nucleolar RNA, C/D box 46 1 1 1 p34.1 43525051 43525148 + 45242164 45242261 + 44776492 44776589 + 6480464 19446021;8674114;8764399 94161 ABBA01050909;AL592166;AMYH02000918;NR_000024;X67247;X96646;Z69628 RNU40;RNU46;U40;U46 snorna HGNC:10186 PROVISIONAL 1352935 SNORD48 small nucleolar RNA, C/D box 48 6 6 6 p21.33 33401292 33401354 + 31803040 31803103 + 31835263 31835326 + 19446021;20041166;23382691;8674114 26801 ABBA01038089;AL662834;AL671762;AL929592;AMYH02013456;CR388202;CR759915;NR_002745;X96648 2131873 RH47136 RNU48;U48 snorna ENSG00000201823 HGNC:10188 PROVISIONAL 1353404 SNORD49A small nucleolar RNA, C/D box 49A INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; potassium chromate 17 17 17 p11.2 16246249 16246319 + 16343350 16343420 + 16440036 16440106 + 6480464 19446021;8674114 26800 ABBA01035652;AC093484;AMYH02033078;NR_002744;X96649 1783516 SHGC-149766 RNU49;U49;U49A snorna ENSG00000277370 HGNC:10189 PROVISIONAL 1346958 SNORD4B small nucleolar RNA, C/D box 4B INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 17 17 17 q11 23909862 23909935 + 27050699 27050772 + 28723681 28723754 + 6480464 19446021;9417910 26772 ABBA01015048;AC010761;AF001689;AJ224025;AMYH02033227;NR_000009 1690748 RH78645 RNU101B;Z17B snorna HGNC:10098 PROVISIONAL 1602739 SNORD49B small nucleolar RNA, C/D box 49B INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 17 17 17 p11.2 16245722 16245769 + 16342823 16342870 + 16439509 16439556 + 6480464 19446021;8674114 692087 ABBA01035652;AC093484;AMYH02033078;NR_003043 U49B snorna HGNC:32721 PROVISIONAL 1345375 SNORD4A small nucleolar RNA, C/D box 4A INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 17 17 17 q11 23908763 23908834 + 27049600 27049671 + 28722582 28722653 + 6480464 19446021;23862649;9417910 26773 ABBA01015048;AC010761;AF001689;AJ224024;AMYH02033227;NR_000010 RNU101A;Z17A;mgh18S-121 snorna HGNC:10097 PROVISIONAL 1602746 SNORD5 small nucleolar RNA, C/D box 5 ASSOCIATED WITH Melanoma (inferred) 11 11 11 q21 90757846 90757918 - 93466394 93466466 - 93733228 93733300 - 8554872 15199136;19446021 692072 ABBA01040043;AJ609488;AMYH02025366;AP001273;NR_003033 2147584 D11S4684 mgh28S-2410 snorna ENSG00000239195 HGNC:32702 PROVISIONAL 1345508 SNORD50A small nucleolar RNA, C/D box 50A SNORD50A belongs to the C/D box class of small nucleolar RNAs (snoRNAs), which are thought to function as guide RNAs in the site-specific ribose methylation of preribosomal RNA (Kiss-Laszlo et al., 1996 [PubMed 8674114]).[supplied by OMIM, Nov 2009] 6 6 6 q14.3 86814206 86814280 - 86387012 86387086 - 85677294 85677368 - 6480464 10792466;18202102;19446021;19683667;22751105;8674114 26799 AB017710;ABBA01040478;AL355615;NR_002743;X96662 1659002;1857426;1858337;2176557 RH46859;SHGC-33135;SHGC-58311;WI-13410 RNU50;U50 APPROVED snorna HGNC:10200 613117 VALIDATED 1602738 SNORD50B small nucleolar RNA, C/D box 50B SNORD50B is a C/D box-type small nucleolar RNA (snoRNA) that is predicted to function as a guide RNA in 2-prime O-methylation of 28S ribosomal RNA (Tanaka et al., 2000 [PubMed 10792466]).[supplied by OMIM, Feb 2010] 6 6 6 q14.3 86814501 86814571 - 86387307 86387377 - 85677589 85677659 - 6480464 10792466;19446021;22751105 692088 AB017710;ABBA01040478;AL355615;AMYH02014038;NR_003044 1659002;1857426;1858337;2176557 RH46859;SHGC-33135;SHGC-58311;WI-13410 U50';U50B APPROVED snorna ENSG00000275072 HGNC:32722 613264 VALIDATED 1347366 SNORD51 small nucleolar RNA, C/D box 51 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 2 2 2 q33 200784035 200784104 + 207026605 207026674 + 206161881 206161950 + 6480464 19446021;8674114 26798 ABBA01062650;AC007383;AMYH02005626;NG_009248;NR_002589;X96650 RNU51;U51 snorna HGNC:10201 VALIDATED 1346681 SNORD53 small nucleolar RNA, C/D box 53 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 p23.2 28994617 28994692 + 29149933 29150008 + 28927067 28927142 + 6480464 19446021;8674114 26796 ABBA01045243;AC097720;AMYH02003502;NR_002741;X96652 RNU53;U53 snorna HGNC:10203 PROVISIONAL 1344613 SNORD54 small nucleolar RNA, C/D box 54 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 8 8 8 q12 52978235 52978297 - 56986398 56986460 - 56073839 56073901 - 6480464;8554872 19446021;23862649;8674114 26795 ABBA01041760;AC107376;AMYH02018018;NR_002437;X96653 2184691 D8S1961 RNU54;U54 snorna HGNC:10204 PROVISIONAL 1344796 SNORD52 small nucleolar RNA, C/D box 52 INTERACTS WITH coumestrol 6 6 6 p21.33 33403103 33403166 + 31804853 31804916 + 31837076 31837139 + 6480464 19446021;20041166;8674114 26797 ABBA01038089;AL662834;AL671762;AL929592;AMYH02013456;CR388202;CR759915;NR_002742;X96651 2155308 RH46105 RNU52;U52 snorna ENSG00000201754 HGNC:10202 PROVISIONAL 1351914 SNORD55 small nucleolar RNA, C/D box 55 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 1 1 1 p34.1 43524424 43524497 + 45241537 45241610 + 44775865 44775938 + 6480464 19446021;23862649;8674114;8764399 26811 ABBA01050909;AL592166;AMYH02000918;NR_000015;X67247;X96654;Z69626 RNU39;RNU55;SNORD39;U39;U55 snorna HGNC:10205 PROVISIONAL 1349350 SNORD56 small nucleolar RNA, C/D box 56 20 20 20 p13 2701733 2701803 + 2637270 2637340 + 2656624 2656694 + 19446021;8674114 26793 ABBA01053795;AL049712;AMYH02036584;NG_012149;NG_032136;NR_002739;X96655 5491266 MARC_6809-6810:992007497:1 RNU56;U56 snorna HGNC:10206 VALIDATED 1345062 SNORD56B small nucleolar RNA, C/D box 56B 14 14 14 q24.2 51928307 51928377 + 71865054 71865124 + 71398337 71398407 + 319139 ABBA01030796;AC005994;AMYH02029465;NR_001276 RNU56B snorna ENSG00000207444 HGNC:19771 PROVISIONAL 1345494 SNORD57 small nucleolar RNA, C/D box 57 20 20 20 p13 2702048 2702119 + 2637585 2637656 + 2656939 2657010 + 19446021;8674114 26792 ABBA01053795;AL049712;AMYH02036584;NG_012149;NG_032136;NR_002738;X96656 2116650;5491266 MARC_6809-6810:992007497:1;WI-18557 RNU57;U57 snorna HGNC:10207 VALIDATED 1354480 SNORD58A small nucleolar RNA, C/D box 58A INTERACTS WITH (-)-epigallocatechin 3-gallate; paracetamol; potassium chromate 18 18 18 q21 43873009 43873073 - 47017653 47017717 - 49491283 49491347 - 6480464 19446021;8674114 26791 AB061824;ABBA01018653;AC100778;AMYH02034695;NR_002571;X96657 RNU58A;U58a snorna HGNC:10208 PROVISIONAL 1345763 SNORD58B small nucleolar RNA, C/D box 58B 18 18 18 q21 43873390 43873455 - 47018034 47018099 - 49491664 49491729 - 19446021;8674114 26790 AB061824;ABBA01018653;AC100778;AMYH02034695;NR_002572;X96658 RNU58B;U58b snorna ENSG00000271982 HGNC:10209 PROVISIONAL 1345043 SNORD59A small nucleolar RNA, C/D box 59A 12 12 12 p13.3 56690523 56690597 - 57038811 57038885 - 56645027 56645101 - 19446021;8674114 26789 ABBA01008432;AC090681;AMYH02026571;NR_002737;X96659 1736226 D12S1168E RNU59;U59 snorna HGNC:10210 PROVISIONAL 1602736 SNORD59B small nucleolar RNA, C/D box 59B INTERACTS WITH cadmium atom 12 12 12 q13.3 56689176 56689250 - 57037464 57037538 - 56643680 56643754 - 6480464 19446021;8674114 692090 ABBA01008432;AC090681;AMYH02026571;NR_003046 1736226 D12S1168E U59B snorna HGNC:32723 PROVISIONAL 1602744 SNORD6 small nucleolar RNA, C/D box 6 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 11 11 11 q21 90756121 90756191 - 93464669 93464739 - 93731503 93731573 - 6480464 15199136;19446021 692075 ABBA01040043;AJ609489;AMYH02025366;AP001273;NR_003036 2147584 D11S4684 mgh28S-2412 snorna ENSG00000202314 HGNC:32703 PROVISIONAL 1642109 SNORD58C small nucleolar RNA, C/D box 58C 18 18 18 q21.1 43870960 43871050 - 47015605 47015694 - 49489235 49489324 - 11875025;16990247;19446021 100124516 AB061824;ABBA01018653;AC100778;AMYH02034695;NR_003701 U58 snorna HGNC:33613 PROVISIONAL 1344326 SNORD60 small nucleolar RNA, C/D box 60 16 16 16 p13.3 2419443 2419525 - 2205024 2205106 - 2155023 2155105 - 19446021;8674114 26788 ABBA01030271;AC009065;AMYH02031245;NR_002736;X96660 5124603 RH93955 RNU60;U60 snorna ENSG00000206630 HGNC:10217 PROVISIONAL 1351384 SNORD62A small nucleolar RNA, C/D box 62A 9 9 9 q34.13 104901229 104901314 + 134361052 134361137 + 131485665 131485750 + 19446021;8962077 26786 ABBA01012097;AL358781;AMYH02021794;NR_002914;U72851 RNU62;U62;U62A snorna HGNC:10219 PROVISIONAL 1354078 SNORD61 small nucleolar RNA, C/D box 61 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in an intron of the RNA binding motif protein, X-linked gene (RBMX). [provided by RefSeq, Sep 2009] X X X q26.3 136324966 136325038 - 135961358 135961430 - 136879199 136879271 - 11387227;19446021;8674114 26787 AL683813;AMYH02040584;NG_012918;NR_002735;X96661 2156965 WI-11365 HBII-342;RNU61;U61 APPROVED snorna HGNC:10218 VALIDATED 1348341 SNORD63 small nucleolar RNA, C/D box 63 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 5 5 5 q31.2 134018593 134018660 - 137896732 137896799 - 138561043 138561110 - 6480464 19240791;19446021;8962077 26785 ABBA01068667;AC011385;AMYH02012297;NG_029469;NR_002913;U72852 RNU63;U63 snorna HGNC:10220 VALIDATED 1602733 SNORD62B small nucleolar RNA, C/D box 62B 9 9 9 q34.13 104906053 104906138 + 134365873 134365958 + 131490486 131490571 + 19446021;8962077 692093 ABBA01012097;AL358781;AMYH02021794;NR_003050 U62;U62B snorna HGNC:23031 PROVISIONAL 1605532 SNORD64 small nucleolar RNA, C/D box 64 This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010] 15 15 15 q12 3392240 3392306 + 25230247 25230313 + 24985100 24985166 + 6480464 11106375;19446021 347686 ABBA01048688;AC124312;AMYH02030094;NG_002690;NR_001294 HBII-13 APPROVED snorna ENSG00000276610 HGNC:32725 REVIEWED 1602543 SNORD66 small nucleolar RNA, C/D box 66 ASSOCIATED WITH Melanoma (inferred) 3 3 3 q27.1 182484380 182484455 + 184043484 184043559 + 184325696 184325771 + 8554872 11387227;19446021 692107 ABBA01058448;AC078797;AMYH02008305;NG_016850;NR_003055 HBII-142 snorna HGNC:32727 VALIDATED 1602544 SNORD65 small nucleolar RNA, C/D box 65 17 17 17 p11.2 16247439 16247511 + 16344540 16344612 + 16441226 16441298 + 11387227;19446021 692106 AC093484;NR_003054 1783516;2160830 RH66249;SHGC-149766 HBII-135 snorna ENSG00000277512 HGNC:32726 PROVISIONAL 1602542 SNORD67 small nucleolar RNA, C/D box 67 11 11 11 p11.2 46929944 46930054 - 46783939 46784049 - 46762389 46762499 - 11387227;19446021 692108 ABBA01060730;AC115088;AMYH02024711;NG_029924;NR_003056 Hs.693252 HBII-166 snorna HGNC:32728 VALIDATED 1602541 SNORD69 small nucleolar RNA, C/D box 69 3 3 3 p21.1 52705463 52705539 + 52726752 52726828 + 52692736 52692812 + 11387227;19446021;21926972 692109 ABBA01024500;AC104446;AMYH02006813;NG_027871;NR_003057 2168196 IB223 HBII-210 snorna HGNC:32730 VALIDATED 1602248 SNORD68 small nucleolar RNA, C/D box 68 INTERACTS WITH 2-methylcholine 16 16 16 q24.3 74691344 74691415 + 89627838 89627909 + 89561430 89561501 + 6480464 11387227;19446021;2247610 606500 ABBA01014145;AC092123;AMYH02032671;NR_002450 1730956;7184755 D16S444E HBII-202 snorna HGNC:32729 PROVISIONAL 1602743 SNORD7 small nucleolar RNA, C/D box 7 This gene encodes a spliceosomal small nuclear RNA that has orthologs in S. pombe and D. melanogaster. In S. pombe, this gene is required for site-specific 2'-O-methylation of U6 snRNA at position A41. While this is not an essential gene for S. pombe growth, loss of this gene's function may result in a slight decrease in mRNA splicing efficiency. [provided by RefSeq, Oct 2008] 17 17 17 q12 30810810 30810906 + 33900676 33900772 + 35573657 35573753 + 11842100;19446021;22139419 692076 ABBA01011230;AC015911;AJ007733;AMYH02033350;NG_008447;NR_003037 Z30;mgU6-47 APPROVED snorna ENSG00000207297 HGNC:32704 REVIEWED 1602540 SNORD70 small nucleolar RNA, C/D box 70 2 2 2 q33.1 196893057 196893144 + 203141154 203141241 + 202276431 202276518 + 11387227;19446021 692110 ABBA01062559;AC064836;AMYH02005561;NR_003058 HBII-234 snorna HGNC:32731 PROVISIONAL 1602539 SNORD71 small nucleolar RNA, C/D box 71 16 16 16 q22.2 56108468 56108553 - 71792305 71792390 - 71758402 71758487 - 11387227;19446021 692111 ABBA01016783;AC010653;AMYH02032325;NR_003059 HBII-239;MIRN768;hsa-mir-768 snorna HGNC:32732 PROVISIONAL 1602243 SNORD72 small nucleolar RNA, C/D box 72 5 5 5 p13 40721356 40721435 - 40832758 40832837 - 40832656 40832735 - 11387227;19446021 619564 AB061834;ABBA01024225;AC008810;AK124098;AMYH02011215;NR_002583 2128135 RP_L37_1 HBII-240 snorna HGNC:32733 PROVISIONAL 1345267 SNORD73B small nucleolar RNA, C/D box U73B (pseudogene) 4 4 4 q31.3 149344775 149345049 + 152023109 152023383 + 151101957 151102231 + 19446021;8647443;9573378 114655 ABBA01070104;AC095055;AMYH02010302;NG_000961;X87373;Z83334 RNU73B;U73B rna, u73b small nucleolar pseudogene APPROVED pseudo HGNC:30357 INFERRED 1602378 SNORD74 small nucleolar RNA, C/D box 74 INTERACTS WITH (-)-epigallocatechin 3-gallate; paracetamol; potassium chromate 1 1 1 q25.1 146946281 146946352 - 173836812 173836883 - 173867674 173867745 - 6480464 15556860;19446021;9819378 619498 ABBA01027896;AF141346;AJ224026;AL136170;AMYH02002157;NR_002579 U74;Z18 snorna HGNC:32734 PROVISIONAL 1347544 SNORD73A small nucleolar RNA, C/D box 73A INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 4 4 4 q31.3 149346645 149346709 + 152024979 152025043 + 151103827 151103891 + 6480464 19446021;23862649;9573378 8944 ABBA01070104;AC095055;AMYH02010302;NR_000007;X87373;Z83330;Z83334 RNU73;RNU73A;U73;U73a snorna HGNC:10235 603568 PROVISIONAL 2291784 SNORD75 small nucleolar RNA, C/D box 75 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 1 1 1 q25.1 146945486 146945545 - 173836017 173836076 - 173866879 173866938 - 6480464 15556860;19446021;9819378 692195 ABBA01027896;AF141346;AL136170;AMYH02002157;NR_003941 U75 snorna HGNC:32735 PROVISIONAL 2291783 SNORD76 small nucleolar RNA, C/D box 76 1 1 1 q25.1 146945242 146945322 - 173835773 173835853 - 173866635 173866715 - 15556860;19446021;9819378 692196 ABBA01027896;AF141346;AL136170;AMYH02002157;NR_003942 U76 snorna HGNC:32736 PROVISIONAL 2291782 SNORD77 small nucleolar RNA, C/D box 77 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 1 1 1 q25.1 146944918 146944978 - 173835449 173835509 - 173866311 173866371 - 6480464 15556860;19446021;9819378 692197 ABBA01027896;AF141346;AL136170;AMYH02002157;NR_003943 U77 snorna HGNC:32737 PROVISIONAL 2291781 SNORD78 small nucleolar RNA, C/D box 78 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 1 1 1 q25.1 146944240 146944293 - 173834771 173834824 - 173865633 173865686 - 6480464 15556860;19446021;9819378 692198 ABBA01027896;AF141346;AL136170;AMYH02002157;NR_003944 U78 snorna HGNC:32738 PROVISIONAL 2289763 SNORD3A small nucleolar RNA, C/D box 3A U3 RNA, an abundant small nucleolar RNA (snoRNA), is thought to play a role in the processing of ribosomal RNA precursors (Bernstein et al., 1983 [PubMed 6186397]).[supplied by OMIM, Jun 2009] 19 17 17 p11.2 37418900 37418971 - 19091329 19091545 + 19188016 19188232 + 6480464 15574332;15574333;21505065;2531075;2719960;6186397;8440138;9365252 780851 AC106017;AMYH02033138;K00777;NR_006880 RNU3;U3 APPROVED snorna ENSG00000277813 HGNC:33189 180710 PROVISIONAL 1351412 SNORD3B-1 small nucleolar RNA, C/D box 3B-1 19 17 17 p11.2 37418900 37418971 - 18965225 18965441 + 19061912 19062128 + 2531075;9365252 26851 AC007952;AF020532;AF020533;AF020534;AMYH02033138;NR_003271 RNU3A1;U3a;U3b1;U3b2 snorna ENSG00000276271 HGNC:10168 VALIDATED 1350035 SNORD47 small nucleolar RNA, C/D box 47 1 1 1 q25.1 146942976 146943052 - 173833507 173833583 - 173864369 173864445 - 19446021;8674114 26802 ABBA01027896;AL136170;AMYH02002157;NR_002746;X96647 1791400 PMC109273P2 RNU47;U47 snorna HGNC:10187 PROVISIONAL 1348850 SNORD8 small nucleolar RNA, C/D box 8 ASSOCIATED WITH Melanoma (inferred) 14 14 14 q11.2 1730948 1731056 - 21865452 21865560 - 21397293 21397401 - 8554872 10490628;19446021 319103 ABBA01061245;AJ243222;AL161747;AMYH02028838;NG_021249;NR_002916 Hs.680078 RNU6C;mgU6-53 snorna HGNC:20159 VALIDATED 1348775 SNORD81 small nucleolar RNA, C/D box 81 1 1 1 q25.1 146942782 146942824 - 173833313 173833355 - 173864175 173864217 - 15556860;19446021;9819378 26769 ABBA01027896;AF141346;AJ224028;AL136170;AMYH02002157;NR_003938 1663269;1791400 PMC109273P2;SHGC-35933 RNU104;U81;Z23 snorna HGNC:10101 PROVISIONAL 1353378 SNORD80 small nucleolar RNA, C/D box 80 1 1 1 q25.1 146943440 146943510 - 173833971 173834041 - 173864833 173864903 - 15556860;19446021;9819378 26774 ABBA01027896;AF141346;AJ224022;AL136170;AMYH02002157;NR_003940 RNU100;U80;Z15 snorna HGNC:10096 PROVISIONAL 1352574 SNORD82 small nucleolar RNA, C/D box 82 The majority of small nucleolar RNAs (snoRNAs) function as guide RNAs in the nucleotide modification of preribosomal RNA (pre-rRNA). C/D box snoRNAs, like SNORD82, are involved in site-specific 2-prime-O-ribose methylation of pre-rRNA (Rebane and Metspalu, 1999 [PubMed 10524220]).[supplied by OMIM, Mar 2008] 2 2 2 q37.1 226101432 226101506 - 232325079 232325153 - 231460368 231460442 - 6480464 10524220;10684968;19446021;2394707 25826 ABBA01002057;AC017104;AJ010666;AMYH02005969;NR_004398 1734780;1793304 D2S1557E;PMC207647P1 RNU82;U82;Z25 APPROVED snorna HGNC:10240 611133 PROVISIONAL 1346705 SNORD79 small nucleolar RNA, C/D box 79 INTERACTS WITH (-)-epigallocatechin 3-gallate; paracetamol; potassium chromate 1 1 1 q25.1 146943957 146944037 - 173834488 173834568 - 173865350 173865430 - 6480464 15556860;19446021;9819378 26770 ABBA01027896;AF141346;AJ224027;AL136170;AMYH02002157;NR_003939 RNU103;U79;Z22 snorna HGNC:10100 PROVISIONAL 1352386 SNORD83A small nucleolar RNA, C/D box 83A Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83A, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83A, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008] 22 22 22 q13 23513332 23513426 - 39711218 39711312 - 39315213 39315307 - 10684968;19446021 116937 ABBA01055560;AJ238852;AL022326;AMYH02038377;NR_000027 1747521;1747523 G65385;G65386 RNU83A;U83A APPROVED snorna HGNC:17131 611070 PROVISIONAL 1349705 SNORD83B small nucleolar RNA, C/D box 83B Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83B, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83B, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008] 22 22 22 q13 23511938 23512030 - 39709824 39709916 - 39313819 39313911 - 6480464 10684968;19446021 116938 ABBA01055560;AJ238852;AL022326;AMYH02038377;NR_000028 RNU83B;U83B APPROVED snorna HGNC:17132 611071 PROVISIONAL 1602371 SNORD86 small nucleolar RNA, C/D box 86 20 20 20 p13 2701206 2701291 + 2636743 2636828 + 2656097 2656182 + 11594746;19446021 692201 ABBA01053795;AJ311853;AL049712;AMYH02036584;NG_032136;NR_004399 U86 snorna HGNC:32745 VALIDATED 1602372 SNORD85 small nucleolar RNA, C/D box 85 1 1 1 p35.2 29696926 29697000 - 31441010 31441084 - 30968163 30968237 - 11387227;19446021 692200 ABBA01023490;AL445235;AMYH02000669;NR_003066 HBII-251 snorna HGNC:32744 PROVISIONAL 1602370 SNORD88A small nucleolar RNA, C/D box 88A ASSOCIATED WITH Melanoma (inferred) 19 19 19 q13.33 48353657 48353753 - 51302696 51302792 - 50799439 50799535 - 8554872 11387227;19446021 692202 ABBA01068298;AC010325;AMYH02036363;NR_003067 HBII-180A snorna ENSG00000221241 HGNC:32747 PROVISIONAL 1602369 SNORD88B small nucleolar RNA, C/D box 88B ASSOCIATED WITH Melanoma (inferred) 19 19 19 q13.33 48353243 48353340 - 51302286 51302382 - 50799029 50799125 - 8554872 11387227;19446021 692203 ABBA01068298;AC010325;AMYH02036363;NR_003068 HBII-180B snorna ENSG00000221381 HGNC:32748 PROVISIONAL 1602235 SNORD87 small nucleolar RNA, C/D box 87 Small nucleolar RNAs (snoRNAs) of the C/D class, such as SNORD87, are involved in 2-prime-methylation of preribosomal RNA precursors (Gogolevskaya et al., 2002 [PubMed 12119114]).[supplied by OMIM, Aug 2008] 8 8 8 q13.1 63828203 63828278 - 67834709 67834784 - 66922474 66922549 - 11387227;12119114;16226852;19446021 641648 ABBA01041882;AC011031;AMYH02018117;NR_002598 1653537;1735750 D8S1363E;RH47443 HBII-276;U87 APPROVED snorna ENSG00000254341 HGNC:32746 612216 PROVISIONAL 1602368 SNORD88C small nucleolar RNA, C/D box 88C ASSOCIATED WITH Melanoma (inferred) 19 19 19 q13.33 48356551 48356647 - 51305582 51305678 - 50802325 50802421 - 8554872 11387227;19446021;22751105 692204 ABBA01068298;AC010325;AMYH02036364;NR_003069 HBII-180C snorna ENSG00000220988 HGNC:32749 PROVISIONAL 1602533 SNORD84 small nucleolar RNA, C/D box 84 6 6 6 p21.33 33107112 33107189 - 31508878 31508955 - 31541101 31541178 - 10684929;19446021;23862649 692199 ABBA01038081;AJ243199;AL662801;AL662847;AMYH02013452;BX001040;BX248516;BX927320;CR753820;CR753864;NR_003065 1786110 SHGC-172533 U84 snorna ENSG00000265236 HGNC:32743 PROVISIONAL 1602367 SNORD89 small nucleolar RNA, C/D box 89 INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate; paracetamol 2 2 2 q11.2 96093386 96093499 - 101889398 101889511 - 101272936 101273049 - 6480464 11387227;19446021 692205 ABBA01073912;AC013722;AK126261;AMYH02004424;NR_003070 Hs.656503 2126928;2148609 RH45674;RH68824 HBII-289 snorna HGNC:32750 PROVISIONAL 1602750 SNORD9 small nucleolar RNA, C/D box 9 14 14 14 q11.2 1725804 1725906 - 21860310 21860412 - 21392151 21392253 - 10490628;19446021 692053 ABBA01061245;AL135744;AL161747;AMYH02028838;NG_021249;NR_003029 Hs.675950 5022026 BE589327 mgU6-53B snorna HGNC:32705 VALIDATED 1602363 SNORD92 small nucleolar RNA, C/D box 92 2 2 2 p23.2 28981211 28981299 + 29136528 29136616 + 28913662 28913750 + 11387227;19446021 692209 ABBA01045243;AC097720;AMYH02003502;NR_003074 2122515;2177194 RH66494;SHGC-56576 HBII-316 snorna HGNC:32754 PROVISIONAL 1602366 SNORD90 small nucleolar RNA, C/D box 90 9 9 9 q33.2 96290803 96290909 - 125642492 125642598 - 122880213 122880319 - 11387227;19446021 692206 ABBA01043718;AC007066;AMYH02021594;NR_003071 Hs.693253 HBII-295 snorna HGNC:32751 PROVISIONAL 1602364 SNORD91B small nucleolar RNA, C/D box 91B 17 17 17 p13.3 2248521 2248606 - 2232419 2232504 - 2329125 2329210 - 11387227;19446021 692208 ABBA01054701;AL450226;AMYH02032772;NR_003073 HBII-296b snorna HGNC:32753 PROVISIONAL 1602365 SNORD91A small nucleolar RNA, C/D box 91A 17 17 17 p13.3 2249675 2249766 - 2233573 2233664 - 2330279 2330370 - 11387227;19446021 692207 ABBA01054701;AL450226;AMYH02032772;NR_003072 HBII-296a snorna HGNC:32752 PROVISIONAL 1602362 SNORD93 small nucleolar RNA, C/D box 93 7 7 7 p15.3 22882575 22882648 + 22896232 22896305 + 22856613 22856686 + 11387227;19446021 692210 ABBA01056697;AC005682;AMYH02015351;CH236948;NR_003075 HBII-336 snorna ENSG00000221740 HGNC:32755 PROVISIONAL 1602354 SNORD94 small nucleolar RNA, C/D box 94 2 2 2 p11.2 86191134 86191270 + 86362993 86363129 + 86135870 86136006 + 14602913;19446021 692225 ABBA01075772;AC009309;AMYH02004191;AY349593;NR_004378 Hs.723087 U94 snorna HGNC:32756 PROVISIONAL 1602237 SNORD96A small nucleolar RNA, C/D box 96A INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 5 5 5 q35.3 176296671 176296742 - 180668818 180668889 - 181241818 181241889 - 6480464 14602913;19446021 619571 ABBA01010097;AC008443;AMYH02012918;AY349595;NR_002592 U96A snorna HGNC:32758 PROVISIONAL 1602353 SNORD96B small nucleolar RNA, C/D box 96B X X X q23 109947840 109947911 - 109468217 109468288 - 110224989 110225060 - 14602913;19446021 692226 ABBA01043423;AL079334;AMYH02040230;AY349596;NG_016469;NR_004379 U96b snorna HGNC:32759 VALIDATED 1602356 SNORD97 small nucleolar RNA, C/D box 97 11 11 11 p15.3 10944612 10944753 - 10823014 10823155 - 10801467 10801608 - 14602913;19446021 692223 ABBA01061154;AC116535;AMYH02024329;AY349597;NR_004403 Hs.723086 1737101;5491705 D11S2865;MARC_8851-8852:992359168:1 U97 snorna HGNC:32760 PROVISIONAL 1602360 SNORD99 small nucleolar RNA, C/D box 99 1 1 1 p35.3 27301021 27301100 - 28905255 28905334 - 28578743 28578822 - 11387227;19446021 692212 ABBA01035043;AL513497;AMYH02000632;NR_003077 HBII-420 snorna ENSG00000221539 HGNC:32762 PROVISIONAL 1602238 SNORD95 small nucleolar RNA, C/D box 95 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 5 5 5 q35.3 176298167 176298229 - 180670314 180670376 - 181243314 181243376 - 6480464 14602913;19446021;22751105 619570 ABBA01010097;AC008443;AMYH02012918;AY349594;NR_002591 U95 snorna HGNC:32757 PROVISIONAL 1602361 SNORD98 small nucleolar RNA, C/D box 98 10 10 10 q21.3 63790871 63790937 + 70514929 70514995 + 68755172 68755238 + 11387227;19446021 692211 ABBA01019588;AL513534;AMYH02023262;NR_003076 HBII-419 snorna HGNC:32761 PROVISIONAL 1314155 SNPH syntaphilin Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. [provided by RefSeq, Jul 2008] 20 20 20 p13 1343292 1386301 + 1246948 1289971 + 1266304 1309327 + 1580863;6480464;8554872 10707983;11780052;12477932;12896979;17207965;20877624;24483146;9205841 9751 O15079 AB002372;ABBA01053768;ABBA01053769;AF187733;AL136531;AMYH02036565;BC035788;CH471133;NM_014723;XM_005260888;XM_005260889;XM_006723667 AAF29901;AAH35788;ADQ31782;BAA20829;EAX10641;EAX10642;EAX10643;EAX10644;EAX10645;NP_055538;O15079;XP_005260945;XP_005260946;XP_006723730 Hs.323833 2147631 RH64100 KIAA0374;MGC46096;bA314N13.5 OTTHUMP00000029965;OTTHUMP00000070985 APPROVED protein-coding ENSG00000101298 HGNC:15931 16081 604942 REVIEWED 6481418 SNRK-AS1 SNRK antisense RNA 1 3 3 43388411 43393454 - 43346919 43351962 - 100873954 ABBA01024759;AC104184;AMYH02006634;BF195995;HG495628;HG495629;NR_046757 Hs.600984 RP11-188P20.2;RP11-188P20.3 APPROVED ncrna HGNC:41269 VALIDATED 1605404 SNRNP27 small nuclear ribonucleoprotein 27kDa (U4/U6.U5) This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] 2 2 2 p13.3 69972266 69983527 + 70121075 70132368 + 69893943 69905236 + 6480464;6907045 12477932;15489334;15815621;16723661;17081983;17207965;17643375;19615732;20360068;22365833;23602568;2479028;24816145;7931148;9085842 11017 A8K513;B8ZZ98;H0YBW5;Q8WVK2 ABBA01075516;AC019206;AK291128;AK312041;AMYH02004030;AW452063;BC017890;BU171817;CH471053;NM_006857;NR_037862;X76302 AAH17890;AAY14866;ADQ32225;BAF83817;BAG34978;CAA53949;EAW99837;EAW99840;NP_006848;Q8WVK2 Hs.54649 1659821;1855410;2148276 RH67798;RH70906;SHGC-12014 27K;RY1 OTTHUMP00000202208;OTTHUMP00000202209;OTTHUMP00000202210;U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein;U4/U6.U5 snRNP 27 kDa protein;U4/U6.U5 tri-snRNP-associated 27 kDa protein;U4/U6.U5 tri-snRNP-associated protein 3;U4/U6.U5-27K;nucleic acid binding protein RY 1;nucleic acid-binding protein RY-1;putative nucleic acid binding protein RY-1 APPROVED protein-coding HGNC:30240 15288 REVIEWED 1322103 SNRNP25 small nuclear ribonucleoprotein 25kDa (U11/U12) Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010] 16 16 16 p13.3 305723 309564 + 103829 107669 + 53829 57669 + 6480464;8554872 12477932;14702039;15146077;15489334;15616553;16728641;18559850;23314748;24250222 79622 B8ZZ06;H7BYR9;Q4TT61;Q9BV90 ABBA01030394;AE006462;AI820975;AK026593;AMYH02031177;BC001381;BC009179;BK005201;CH471112;DQ431198;NG_017004;NM_024571;Z69719;Z84714 AAH01381;AAH09179;AAK61211;ABD95904;ABM83055;ABM83263;ABM86248;BAB15505;CAI95606;CAX15111;DAA05499;EAW85877;EAW85878;NP_078847;Q9BV90 Hs.15277 1798824;1800346;1801706;1810120;2046732;2046734;2046736;2046738;2046740;2046742;2046744;2046746;2046748;2046750;2046752;2046754;2046756;2046758;2046760;2046762;2046764;2046766;2046768;2046770;2046772;2046774;2046776;2046778;2104336;2104338;2104340;2178148 D16S3332;ECD00252;ECD01032;ECD01733;ECD06052;REN94495;REN94496;REN94497;REN94498;REN94499;REN94500;REN94501;REN94502;REN94503;REN94504;REN94505;REN94506;REN94507;REN94508;REN94509;REN94510;REN94511;REN94512;REN94513;REN94514;REN94515;REN94516;REN94517;REN94518;stSG608830;stSG608831;stSG608832 C16orf33;FLJ22940 OTTHUMP00000067143;OTTHUMP00000197536;U11/U12 small nuclear ribonucleoprotein 25 kDa protein;U11/U12 snRNP 25 kDa protein;U11/U12 snRNP 25K;minus-99 protein APPROVED protein-coding ENSG00000161981 HGNC:14161 12673 REVIEWED 1602490 SNRNP35 small nuclear ribonucleoprotein 35kDa (U11/U12) The protein encoded by this gene is a homolog of the U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal half is rich in Arg/Asp and Arg/Glu dipeptides, which is a characteristic of a variety of splicing factors. This protein is a component of the U11/U12 small nuclear ribonucleoproteins (snRNP) that form part of the U12-type spliceosome. Alternative splicing results in multiple transcript variants encoding two distinct isoforms and representing a non-protein coding variant. [provided by RefSeq, Aug 2013] 12 12 12 q24.31 123538515 123546844 + 123942191 123950941 + 123457934 123472362 + 6480464 10520751;12477932;15146077;17207965;18559850;19565553;21586597;21832049;21900206;23602568;8889548 11066 Q16560 ABBA01060408;ABBA01060409;AC145423;AK290127;AX056804;BC009622;BC028485;BC047678;BC054034;BC093671;BC111955;BK005197;BM714052;CH471054;NM_022717;NM_180699;NR_104103;U44798;U44799;XM_005253545;XM_006719204 AAA86654;AAA86655;AAH09622;AAH47678;AAH54034;AAH93671;AAI11956;ADQ31915;BAF82816;CAC22380;DAA05495;EAW98412;EAW98413;EAW98414;NP_073208;NP_851030;Q16560;XP_005253602;XP_006719267 Hs.632738 2124787 RH18067 HM-1;MGC138160;U1SNRNPBP OTTHUMP00000236244;OTTHUMP00000236245;U1 snRNP binding protein homolog;U1 snRNP-binding protein homolog;U1-snRNP binding protein homolog;U11/U12 small nuclear ribonucleoprotein 35 kDa protein;U11/U12 snRNP 35 kDa protein;U11/U12 snRNP 35K;U11/U12-35K APPROVED protein-coding HGNC:30852 15595 REVIEWED 1606327 SNRNP40 small nuclear ribonucleoprotein 40kDa (U5) This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008] 1 1 1 p35.2 29988910 30026143 - 31732415 31769644 - 31259568 31296797 - 6480464;6907045 10788320;11971955;11991638;12226669;12477932;15489334;15506927;16159877;16169070;16429158;16710414;16723661;17041588;17353931;18029348;18212063;19322201;19615732;20360068;21139048;21832049;21890473;21963094;22174317;22939629;22990118;23000965;23084401;23455491;23602568;24332808;24457600;2479028;24816145;9731529;9774689 9410 A0MNP2;Q96DI7;Q9NSS8 ABBA01023469;ABBA01023470;AC114495;AF090988;AK074516;AK123103;AK298823;AK313800;AL157420;AL451070;AMYH02000678;BC001494;BM150898;CH471059;CQ782448;CR736901;EF011621;NM_004814 AAC69625;AAH01494;ABK41111;ABM84553;ABM86368;BAG36536;BAG51963;BAG60953;CAB75650;CAF85733;EAX07626;EAX07627;NP_004805;Q96DI7 Hs.33962 1692710;1698920;1781638;2155568;5091008 AL034116;D1S3561;RH103029;SHGC-154524;SHGC-74523 40K;FLJ41108;HPRP8BP;MGC1910;PRP8BP;PRPF8BP;RP11-490K7.3;SPF38;U5-40K;WDR57 38 kDa-splicing factor;OTTHUMP00000003888;Prp8-binding protein;U5 small nuclear ribonucleoprotein 40 kDa protein;U5 snRNP 40 kDa protein;U5 snRNP-specific 40 kDa protein (hPrp8-binding);U5-40kD protein;WD repeat domain 57 (U5 snRNP specific);WD repeat-containing protein 57 APPROVED protein-coding ENSG00000060688 HGNC:30857 08481 607797 REVIEWED 1319128 SNRNP48 small nuclear ribonucleoprotein 48kDa (U11/U12) ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); FOUND IN U12-type spliceosomal complex; INTERACTS WITH 5-fluorouracil; benzo[a]pyrene diol epoxide I; cyclosporin A 6 6 6 p24.3 8820198 8841965 + 7590432 7612200 + 7590199 7611967 + 6480464 12477932;14574404;14702039;15146077;18029348;18347052;19217400;19322201;21906983;23251661 154007 Q6IEG0 ABBA01022045;ABBA01022046;AJ420586;AK027220;AK056796;AK292409;AL031058;AL390026;AL832462;AMYH02013062;BC001558;BC054008;BC062458;BC114630;BC114631;BK005199;CH471087;NM_152551;XR_427825 AAI14631;AAI14632;BAB71287;BAF85098;CAI20238;DAA05497;EAW55216;EAW55217;EAW55218;NP_689764;Q6IEG0 Hs.13366 2140854;2154047;5017227 G38154;SHGC-36217;WI-12266 C6orf151;FLJ32234;MGC138904;MGC138905;dJ336K20B.1;dJ512B11.2 OTTHUMP00000016002;U11/U12 small nuclear ribonucleoprotein 48 kDa protein;U11/U12 snRNP 48 kDa protein;U11/U12 snRNP 48K;U11/U12-48K protein-coding ENSG00000168566 HGNC:21368 12858 VALIDATED 735399 SNRK SNF related kinase SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009] 3 3 3 p22.1 43265488 43330125 + 43328004 43392635 + 43286512 43351143 + 6480464;8554872 10878360;10930554;12087103;12168954;12234663;12477932;14702039;15342556;15489334;15733851;16306228;16344560;17353931;22874833;23251661;24250222;7788527;8654423 54861 E7EUC4;Q9NRH2 ABBA01024759;AC104184;AC104434;AK000231;AK025449;AK026013;AK291360;AK295187;AK314376;AMYH02006632;AMYH02006633;AMYH02006634;BC071567;BP281284;CH471055;CR749621;D43636;DA769463;DB080037;NM_001100594;NM_017719;U57452;XM_005265245;XM_005265246 AAB02237;AAH71567;BAA07744;BAA91023;BAF84049;BAG37003;BAG58191;CAH18415;EAW64693;EAW64694;NP_001094064;NP_060189;Q9NRH2;XP_005265302;XP_005265303 Hs.476052 1735322;1774477;1777652;2112628;2166869;2219700;5022200;5037552 D3S2951E;D3S3943;D3S4376;D8S2279;L18426;SHGC-76870;SNRK__5466;WIAF-2554 DKFZp779A1866;FLJ20224;HSNFRK;KIAA0096 OTTHUMP00000209954;OTTHUMP00000209955;OTTHUMP00000209956;OTTHUMP00000209957;SNF-1 related kinase;SNF-related serine/threonine-protein kinase;SNF1-related kinase APPROVED protein-coding ENSG00000163788 HGNC:30598 18082 612760 VALIDATED 1345061 SNRPBL1 small nuclear ribonucleoprotein polypeptide B-like 1 6630 HGNC:11156 1316600 SNRPA small nuclear ribonucleoprotein polypeptide A The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010] 19 19 19 q13.1 38057181 38071716 + 41256725 41271297 + 40750854 40765392 + 1580863;6480464;6907045;8554872 10648562;10688667;10742179;11101529;11420046;12226669;12477932;15146197;15231748;15489334;15635413;15890361;16055720;16189514;1696729;1701111;17332742;17353931;17361185;17507659;17942741;17955473;1826055;1831431;1833186;18457437;18854154;19373254;19561594;19738201;20085233;20508642;21139048;21145461;21298455;21319273;21384338;21419778;2147232;21566083;21642987;21890473;21906983;22365833;22863883;22939629;23151878;23166591;23184937;23602568;24362020;24457600;24778252;24816145;2962859;7984237;8070414;8602269;8609632;9265619;9312034;9731529;9783582;9848648 6626 B4DDC7;M0QXK2;M0QZG7;M0R0G9;M0R221;M0R268;M0R2B8;P09012 ABBA01040786;ABBA01040787;ABBA01040788;AC020945;AK293140;AK313182;AMYH02036123;AMYH02036124;BC000405;BC008290;BQ002918;CH471126;CN286572;M60784;NM_004596;X06347 AAA61245;AAH00405;AAH08290;BAG35999;BAG56688;CAA29653;EAW56995;EAW56996;NP_004587;P09012 Hs.466775 1653051;1681540;1720303;1789038;2121672;2160208 G65653;RH123900;RH67887;RH77942;RH80281;STS-N55164 Mud1;U1-A;U1A U1 small nuclear RNP-specific A;U1 small nuclear ribonucleoprotein A;U1 snRNP A;U1 snRNP-specific protein A APPROVED protein-coding ENSG00000077312 HGNC:11151 01658 182285 REVIEWED 1321959 SNRPA1 small nuclear ribonucleoprotein polypeptide A' ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN gene expression (inferred); mRNA splicing, via spliceosome (inferred); RNA splicing (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN catalytic step 2 spliceosome; nucleus; spliceosomal complex; INTERACTS WITH (-)-demecolcine; 5-fluorouracil; benzo[a]pyrene 15 15 15 q26.3 78234560 78248305 - 101821715 101835481 - 101281510 101295276 - 1580863;6480464;6907045 10339552;10811961;11101529;11780068;11790298;11991638;12226669;12234937;12477932;14702039;15489334;15635413;15848144;16159877;16196087;16964243;17332742;17353931;17643375;18854154;19471022;19615732;19738201;19928837;20020773;20360068;21139048;21145461;2148205;21642987;21693764;21890473;21906983;21963094;22178446;22365833;22623428;22863883;22939629;23000965;23184937;23349634;23463506;24068947;24457600;24657165;24778252;24816145;24866816;2928112;8125298;8331728;9531537;9716128;9731529 6627 H0YKK0;H0YLR3;H0YMA0;P09661 ABBA01020524;AC023024;AJ130971;AJ130972;AK090986;AK223070;AK223110;AK290078;AK312200;AL538391;AMYH02031170;BC022816;BC067846;BC071717;CH471101;NM_003090;X13482;XR_243213 AAH22816;AAH67846;AAH71717;ABM83764;ABM87083;BAD96790;BAD96830;BAF82767;BAG35133;CAA10271;CAA10272;CAA31838;EAX02296;EAX02297;EAX02298;EAX02299;EAX02300;NP_003081;P09661 Hs.528763 1704768;1724003;2113646;2150784;5022200;5037552;5125104 D15S910;D8S2279;L18426;RH118954;SHGC-79848;STS-AA011337;UniSTS:479275 Lea1 OTTHUMP00000194836;U2 small nuclear ribonucleoprotein A';U2 small nuclear ribonucleoprotein polypeptide A';U2 snRNP A' protein-coding ENSG00000131876 HGNC:11152 04629 603521 VALIDATED 1316126 SNRNP70 small nuclear ribonucleoprotein 70kDa (U1) ENCODES a protein that exhibits poly(A) RNA binding; RNA binding; INVOLVED IN mRNA splicing, via spliceosome; regulation of RNA splicing; PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; spliceosomal complex; U1 snRNP; INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; bathocuproine disulfonic acid 19 19 19 q13.3 46455683 46479094 + 49588465 49611870 + 49085208 49108613 + 1580863;6480464;6907045;8554872 10339552;10725331;11448987;11500380;11514619;11741604;11748230;11780068;11850407;12115232;12193588;12218166;12226669;12417631;12456665;12477932;12548559;12549820;12560496;14561889;14688384;14702039;14765198;15144186;15146197;15231748;15489334;15862967;16055720;16964243;17043677;17081983;17332742;17353931;17622584;18202700;1833625;18523312;18559850;19232124;19419839;19738201;19784376;19928837;20195357;20205790;20500824;20519584;20811636;21139048;21145461;21348812;2147422;21536904;21642987;21693764;21832049;21890473;21906983;21942715;21963094;21988832;22113938;22174317;22365833;22379092;22454191;22490866;22505724;22586326;22623428;22939629;22990118;23084401;23151878;23246001;23398456;23602568;23752268;23874216;24023061;24250222;24457600;24461387;2447561;24654937;2467746;24773620;2477447;24778252;24816145;3028775;7516470;8261509;8332490;8746626;8816452;8889548;9016565;9281376;9447963;9472028;9531537;9685421;9731529;9799243;9826776 6625 M0QX04;M0QYR1;P08621;Q9UFS1 ABBA01032941;ABBA01032942;AC008687;AC245081;AK027127;AK056808;AK096783;AK293120;AL117399;AL117507;AL560281;AL832819;BC000342;BC001315;BE397125;BM969999;CH471177;CN292681;DA403443;DB031937;DB189176;M22636;M57935;M57939;NM_001301069;NM_003089;X06811;X06812;X06813;X06814;X06815;X06816;X06817;X06818;X06819;X07401;X07402;X07403;X84841;XM_005259177;XM_005259178 AAA03001;AAA36571;AAA36572;AAA36573;AAH00342;AAH01315;BAF85809;BAG51812;BAG53365;CAA29960;CAA29961;CAA29962;CAA29963;CAA29964;CAA29965;CAA29966;CAA29967;CAA30303;CAA30304;CAA30305;CAA59278;CAB55900;CAB55969;EAW52445;EAW52446;EAW52447;EAW52448;EAW52449;EAW52450;EAW52451;EAW52452;EAW52453;NP_001287998;NP_003080;P08621;XP_005259234;XP_005259235 Hs.467097 1693694;1766133;1797180;2147190;2153905 RH11471;SHGC-149512;SHGC-57460;SHGC-58615;SNRP70 RNPU1Z;RPU1;SNRP70;Snp1;U1-70K;U170K;U1AP;U1RNP U1 small nuclear ribonucleoprotein 70 kDa;U1 snRNP 70 kDa protein-coding ENSG00000104852 HGNC:11150 01617 180740 VALIDATED 1320950 SNRPB2 small nuclear ribonucleoprotein polypeptide B The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p12.1 16785672 16797480 + 16710609 16722417 + 16729964 16741772 + 1580863;6480464;6907045 10556282;11149922;11780052;11780068;11991638;12084575;12226669;12234937;12477932;15489334;15592455;15840729;16159877;16341674;16344560;17332742;17353931;18457437;20360068;21139048;21145461;2139037;21642987;21890473;21906983;22365833;22505724;22678362;22863883;22939629;23000965;24163370;24457600;24778252;24816145;24866816;2951739;7593271;9016565;9323129;9576861;9716128;9731529 6629 P08579;Q86YK2 AA953215;AB451234;AB451359;ABBA01054016;AI741327;AK313004;AL034428;AMYH02036757;BC008311;BC018022;BC022311;BC036737;BF243328;BM772256;CH471133;DA088017;M15841;NM_003092;NM_198220 AAA36796;AAH08311;AAH18022;AAH36737;ABM81790;ABM84945;BAG35840;BAG70048;BAG70173;EAX10284;EAX10285;EAX10286;NP_003083;NP_937863;P08579 Hs.280378 1663501;1683479;1698858;2159078;2218044 D20S1100;RH102994;RH45368;RH69644;SNRPB2_2657 MGC24807;MGC45309;Msl1 OTTHUMP00000030324;OTTHUMP00000030325;U2 small nuclear ribonucleoprotein B'';U2 snRNP B'';small nuclear ribonucleoprotein polypeptide B2 APPROVED protein-coding ENSG00000125870 HGNC:11155 04628 603520 REVIEWED 733493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p13 2506726 2515940 - 2442281 2451499 - 2461635 2470853 - 1580863;6480464;6907045 10025403;10531003;10556282;10556313;10601333;10725331;11149922;11226169;11343899;11522829;11549288;11574479;11604498;11641277;11713266;11714716;11720283;11747828;11748230;11756452;11780052;11780068;11991638;12065586;12095920;12226669;12234937;12403470;12456665;12477932;12560496;12975319;1376292;15105431;15130578;15146077;15231747;15494309;15782174;15848170;15939020;16000308;16087681;16120600;16159877;16169070;1693924;1694885;17207965;17332742;17353931;17643375;17709427;17955473;1825643;18362360;18984161;19471022;19738201;19928837;19997741;20085707;20360068;20418484;21139048;21145461;21642987;2174118;21890473;21906983;22365833;22505724;22863883;22912744;22939629;22990118;23000965;23084401;23151878;23184937;23398456;23438482;23463506;23602568;24332808;24357717;24778252;24816145;2522186;2522439;2524838;2531083;7683587;8076607;8510173;9010216;9323129;9417867;9724750 6628 A8MT02;P14678;Q66K91;S4R3P3 ABBA01053790;AF134825;AK301034;AK301206;AK307093;AK312620;AL049650;AMYH02036581;AY742712;BC003530;BC080516;BM559678;CH471133;CQ834772;CR456969;J04564;M34081;M34082;NM_003091;NM_198216;X15893;X17567;X17568;X52979 AAA36578;AAA36579;AAA60151;AAD54488;AAD54489;AAH80516;AAU89981;ADQ32029;BAG35506;BAG62648;BAG62782;CAA33902;CAA37170;CAA37171;CAB57867;CAB57868;CAG33250;CAH05601;EAX10596;EAX10597;EAX10598;EAX10599;NP_003082;NP_937859;P14678 Hs.83753 1717427;2107641;2124345;2156892;5491649 D20S1032;MARC_5069-5070:996690109:1;RH122204;SNRPB_2794.2;WI-18905 COD;SNRPB1;Sm-B/B';SmB/B';SmB/SmB';snRNP-B B polypeptide of Sm protein;OTTHUMP00000030012;OTTHUMP00000030013;Sm protein B/B';sm-B/Sm-B';small nuclear ribonucleoprotein polypeptide B;small nuclear ribonucleoprotein polypeptides B and B';small nuclear ribonucleoprotein-associated proteins B and B' APPROVED protein-coding ENSG00000125835 HGNC:11153 01655 182282 REVIEWED 4109592 SNRPBP1 small nuclear ribonucleoprotein polypeptides B and B1 pseudogene 1 7 7 7 q21.11 74707519 74707800 - 80006870 80007151 - 80377554 80377835 - 9847074 100499258 ABBA01058049;AC004862;AMYH02016143;CH236949;NG_023439 pseudo HGNC:38665 INFERRED 8548765 SNRPCP1 small nuclear ribonucleoprotein polypeptide C pseudogene 1 9 9 9 p21.1 32607058 32607744 - 32675841 32676527 - 32675843 32676529 - 100288596 ABBA01065078;AL157884;AL589642;AMYH02019412;NG_013309 pseudo HGNC:49816 INFERRED 8548760 SNRPCP11 small nuclear ribonucleoprotein polypeptide C pseudogene 11 3 3 3 q21 123953970 123954749 - 125534351 125535130 - 125815508 125816287 - 100310850 ABBA01016405;AC092902;AMYH02007580;NG_013313 pseudo HGNC:49826 INFERRED 8548692 SNRPCP12 small nuclear ribonucleoprotein polypeptide C pseudogene 12 11 11 11 q13 65008893 65009674 + 67672868 67673649 + 67905397 67906178 + 100310854 ABBA01024022;AP003716;NG_013318 pseudo HGNC:49827 INFERRED 8548763 SNRPCP14 small nuclear ribonucleoprotein polypeptide C pseudogene 14 11 11 11 q13 68703205 68703986 - 71400918 71401699 - 71689872 71690653 - 100310855 ABBA01017550;AMYH02025068;AP003498;NG_013319 pseudo HGNC:49829 INFERRED 8548767 SNRPCP15 small nuclear ribonucleoprotein polypeptide C pseudogene 15 8 8 8 p23 6995217 6996001 + 7028056 7028840 + 7170534 7171318 + 100310857 ABBA01007048;AC245425;AF228730;NG_013321 pseudo HGNC:49830 INFERRED 8548747 SNRPCP18 small nuclear ribonucleoprotein polypeptide C pseudogene 18 15 15 15 q26.3 78516284 78517008 + 102102691 102103415 + 101562488 101563212 + 100289564 ABBA01020519;AC090164;AMYH02031174;NG_013311 pseudo HGNC:49833 INFERRED 8548731 SNRPCP19 small nuclear ribonucleoprotein polypeptide C pseudogene 19 7 7 7 p15 24934666 24935227 - 24945661 24946221 - 24906042 24906602 - 12853948 100310849 ABBA01056729;AC004016;AMYH02015381;CH236948;NG_013312 pseudo HGNC:49834 INFERRED 8548706 SNRPCP2 small nuclear ribonucleoprotein polypeptide C pseudogene 2 5 5 5 q13.3 71566153 71566865 + 75672491 75673203 + 76376666 76377378 + 100129566 ABBA01061956;AC093251;AMYH02011605;CH471084;NG_013307 EAW95774 pseudo HGNC:49817 INFERRED 8548694 SNRPCP3 small nuclear ribonucleoprotein polypeptide C pseudogene 3 3 3 3 q25.1 148850617 148851705 - 150437540 150438628 - 150719753 150720841 - 100128469 ABBA01058922;AC011317;AMYH02007890;NG_013315 pseudo HGNC:49818 INFERRED 1351534 SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010] 2 2 2 q11.2 91381262 91412485 - 96940074 96971307 - 96274336 96305569 - 1580863;6480464;6907045;7240710;8554872;8699517 11331595;11790298;11971955;11991638;12168954;12226669;12403470;12421765;12477932;14702039;15146077;15175327;15302935;15324660;15489334;15635413;15848144;16009940;16051665;16055720;16159877;16210410;16344560;16565220;16612614;16723661;16730941;17081983;17314511;17332742;17353931;17567985;17643375;18029348;18457437;18624398;18781797;18951082;19454010;19471022;19596686;19615732;19710410;19738201;19875381;19878916;20020773;20301590;20360068;20936779;21081666;21139048;21145461;21252943;21618346;21693764;21890473;21903422;21906983;21963094;21987572;22108332;22118674;22174317;22178446;22268729;22365833;22446626;22505724;22569250;22586326;22623428;22623531;22863883;22939629;22990118;23000965;23029027;23045696;23084401;23125841;23443559;23500468;23602568;23637979;23704370;23862649;23887765;24244333;24302620;24319334;24332808;24457600;24550385;24591637;24639526;24654937;24816145;25027693;8600454;8670905;9539711;9774689;9872452 23020 B4E0P5;O75643 AB018331;ABBA01036592;ABBA01036593;AC021188;AF085356;AF119874;AJ844618;AK021418;AK021583;AK023840;AK024391;AK026662;AK090671;AK303465;AK303663;AL831994;AMYH02004330;AW190145;AY572488;BC001417;BC007577;BC065924;BC112891;BC131784;BP873066;CH471207;DA109508;DB067751;NG_016973;NM_014014;Z70200 AAD40191;AAF69628;AAH01417;AAH07577;AAH65924;AAI12892;AAI31785;AAS78571;BAA34508;BAB14698;BAB14906;BAC03499;BAG64507;BAG64662;CAA94089;CAH59741;EAW71372;EAW71373;NP_054733;O75643 Hs.246112 1658173;1665556;1682177;2144422;5014051;5015619;5015961;5020948 D11S3114;D15S1477;D2S2893;D8S2278;G19984;G35510;RH10762;SHGC-33807 ASCC3L1;BRR2;FLJ11521;HELIC2;RP33;U5-200KD BRR2 homolog;OTTHUMP00000161012;U5 small nuclear ribonucleoprotein 200 kDa helicase;U5 snRNP-specific 200 kDa protein;activating signal cointegrator 1 complex subunit 3-like 1;retinitis pigmentosa 33 (autosomal dominant) APPROVED protein-coding ENSG00000144028 HGNC:30859 03391 601664;610359 REVIEWED 8548761 SNRPCP6 small nuclear ribonucleoprotein polypeptide C pseudogene 6 8 8 8 p23 6967747 6968529 - 7000581 7001363 - 7143059 7143841 - 100310856 ABBA01007048;AC245425;AF228730;NG_013320 pseudo HGNC:49821 INFERRED 8548707 SNRPCP4 small nuclear ribonucleoprotein polypeptide C pseudogene 4 18 18 18 p11.3 2866043 2866705 + 2990648 2991310 + 2990650 2991312 + 100310848 ABBA01049840;AMYH02034218;AP000919;NG_013310 pseudo HGNC:49819 INFERRED 8548764 SNRPCP7 small nuclear ribonucleoprotein polypeptide C pseudogene 7 12 12 12 p13 10059089 10059868 + 8492784 8493563 + 8340188 8340967 + 100310852 ABBA01012240;AC092745;AC247052;NG_013316 pseudo HGNC:49822 INFERRED 8548744 SNRPCP8 small nuclear ribonucleoprotein polypeptide C pseudogene 8 3 3 3 q21 128347052 128347834 + 129918554 129919336 + 130199711 130200493 + 100310851 ABBA01059207;AC130888;AMYH02007654;NG_013326 pseudo HGNC:49823 INFERRED 8548691 SNRPCP9 small nuclear ribonucleoprotein polypeptide C pseudogene 9 7 7 7 q21 92209894 92210685 + 97515180 97515971 + 97885868 97886659 + 9847074 100310853 ABBA01045743;AC005326;AC079781;AMYH02016318;NG_013317 pseudo HGNC:49824 INFERRED 3302339 SNRPD2P2 small nuclear ribonucleoprotein D2 pseudogene 2 INTERACTS WITH (+)-catechin 1 1 1 q42.2 204876347 204877110 - 231611508 231612271 - 231475762 231476525 - 12477932 645339 Q4G1D0 ABBA01033039;AL445524;AMYH02002890;BC014600;NR_033826 AAH14600 Hs.382049 pseudo HGNC:38598 VALIDATED 1312873 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 19 19 19 q13.2 42996835 43001568 - 46190712 46195569 - 45687454 45692311 - 6480464;6907045 10025403;10531003;10556282;10601333;10725331;10942426;11101529;11135666;11226169;11713266;11714716;11748230;11756452;11780068;11991638;12065586;12226669;12234937;12477932;12577067;12975319;14667819;15057824;15130578;15146077;15231747;15489334;15782160;15848170;15939020;16087681;16159877;16169070;16196087;16344560;16712791;1701240;17332742;17620599;17643375;18457437;18984161;19471022;19531499;19738201;19928837;20360068;21139048;21145461;21319273;21642987;21693764;21890473;21906983;21963094;21988832;22365833;22446626;22589738;22623428;22863883;22939629;23000965;23084401;23151878;23184937;23246001;23349634;23398456;23402259;23455922;24250222;24255178;24457600;24550385;24816145;3260384;7527560;9323129;9417867 6633 K7EJB5;K7ERG4;P62316 ABBA01040942;AC007191;AJ707552;AK291912;AMYH02036207;AX888147;BC000486;BC001930;BG528418;BU532756;CB136390;CH471126;DA325073;NM_004597;NM_177542;U15008;XM_005259180 AAC13776;AAD22673;AAH00486;AAH01930;ABM82172;ABM85358;BAF84601;CAE94072;EAW57373;EAW57374;NP_004588;NP_808210;P62316;XP_005259237 Hs.515472 1685269;1687948 RH69717;RH79659 SMD2;SNRPD1;Sm-D2 small nuclear ribonucleoprotein Sm D2;snRNP core protein D2 APPROVED protein-coding ENSG00000125743 HGNC:11159 03038 601061 REVIEWED 2305219 SNRPEP1 small nuclear ribonucleoprotein polypeptide E pseudogene 1 5 5 5 q33.3 155786188 155786468 + 159753700 159753980 + 160326693 160326973 + 1839226 100129454 ABBA01044221;AC112191;AMYH02012605;M65126;NG_008773 pseudo HGNC:35244 INFERRED 6481015 SNRPEP10 small nuclear ribonucleoprotein polypeptide E pseudogene 10 1 1 223831814 223832085 - 223644112 223644383 - 100874424 ABBA01008159;AC099065;AMYH02002765;NG_032560 pseudo HGNC:43575 INFERRED 1345342 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 22 q11.23 8751341 8768251 + 24951618 24970932 + 24555650 24574964 + 6480464;6907045 10025403;10531003;10556282;10601333;10725331;10747894;10851237;11101529;11226169;11389857;11574479;11713266;11714716;11747828;11748230;11756452;11780068;11790298;11991638;12065586;12226669;12234937;12477932;12975319;14559993;15130578;15146077;15146197;15231747;15302587;15342556;15369763;15461802;15489334;15642139;15642993;15782174;15848170;15939020;16159877;16196087;16236255;1701240;17332742;17643375;17709427;18029348;18781797;18854154;18984161;19322201;19471022;19520849;19738201;19759913;20085707;20360068;21139048;21145461;21516107;21642987;21853274;21874759;21906983;21963094;21988832;22365833;22446626;22505724;22623428;22863883;22939629;22990118;23084401;23151878;23184937;23246001;23398456;23438482;23443559;23463506;24457600;24550385;24583282;24657165;7527560;9323129;9417867 6634 H3BT13;P62318 AB451249;AB451373;ABBA01055141;AK296173;AMYH02038144;AP000356;BC000457;BC003150;BC034447;BF344644;BM928709;BP202359;BY993733;CH471095;CN286602;CR456583;NM_001278656;NM_004175;NR_103819;U15009 AAA57034;AAH00457;AAH03150;BAG58909;BAG70063;BAG70187;CAG30469;CAK54613;CAK54912;EAW59670;NP_001265585;NP_004166;P62318 Hs.356549 1667839;1724669;2180979 RH121336;SHGC-12625;STS-W80851 SMD3;Sm-D3 OTTHUMP00000198379;OTTHUMP00000198382;small nuclear ribonucleoprotein Sm D3;small nuclear ribonucleoprotein polypeptide D3;snRNP core protein D3 APPROVED protein-coding HGNC:11160 03039 601062 REVIEWED 1313167 SNRPE small nuclear ribonucleoprotein polypeptide E ENCODES a protein that exhibits RNA binding (inferred); INVOLVED IN hair cycle; spliceosomal snRNP assembly; PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Absent axillary hair (inferred); Aplasia/Hypoplasia of the eyebrow (inferred); Autosomal dominant inheritance (inferred); FOUND IN catalytic step 2 spliceosome; cytosol; extracellular vesicular exosome; INTERACTS WITH arsenous acid; diarsenic trioxide; phenobarbital 1 1 1 q32 176966084 176975627 + 203830740 203840280 + 203861612 203871152 + 6480464;6907045;8699517;7240710;8554872 10025403;10531003;10556282;10601333;10725331;11226169;11574479;11713266;11714716;11748230;11756452;11969417;11991638;12022225;12065586;12226669;12234937;12477932;14667819;15130578;15146077;15161933;15231747;15489334;15848170;15939020;16159877;16322212;1688550;16960555;17332742;18045987;18208561;1835977;18434602;18567582;18781797;18984161;19378335;19404844;19471022;19483722;19738201;19917255;20360068;20460314;20639865;20807807;20972266;21139048;21145461;21319273;2143747;21642987;21890473;21906983;21963094;22053931;22174317;22178446;22365833;22505724;22506009;22510884;22826122;22863883;22939629;23000965;23151878;23190890;23246001;23246290;23358685;2440864;24816145;2522439;2972723;2974536;2974540;8098025;9020971;9154803;9323129;9417867 6635 A6NHK2;P62304 ABBA01027466;AC114402;AC118554;AK307255;AK312130;AMYH02002519;BC002639;BC072433;BC090951;CH471067;M15919;M21258;M37716;NM_003094;X12466 AAA36621;AAA90926;AAB59365;AAH02639;AAH90951;BAG35066;CAA31007;EAW91494;EAW91495;NP_003085;P62304 Hs.334612;Hs.654418 1791247;1851974 Braf;D1S3358 B-raf;HYPT11;SME;Sm-E OTTHUMP00000034219;sm protein E;small nuclear ribonucleoprotein E;snRNP-E protein-coding HGNC:11161 00548 128260;615059 PROVISIONAL 1347491 SNRPEP2 small nuclear ribonucleoprotein polypeptide E pseudogene 2 9 9 9 p24.1 6679338 6679797 - 6748553 6749012 - 6748553 6749012 - 17643375 414153 ABBA01065382;AL354707;AMYH02019103;NG_006656 SNRPEL1;bA390F4.4 APPROVED pseudo HGNC:20733 INFERRED 5552924 SNRPEP3 small nuclear ribonucleoprotein polypeptide E pseudogene 3 16 16 16 p12.3 19399358 19399684 - 20250243 20250569 - 20238921 20239247 - 1839226 100129329 ABBA01028278;AC092132;AMYH02031661;M65125;NG_008888 pseudo HGNC:43445 INFERRED 1343555 SNRPD2P1 small nuclear ribonucleoprotein D2 pseudogene 1 10 10 10 q23.31 85484822 85485328 + 91738419 91738925 + 89978662 89979168 + 15324660;17643375;19167051 119358 ABBA01021941;AL390206;AMYH02023514;CH471066;NG_023172 EAW50123 1685269;1687948;1788724 RH126590;RH69717;RH79659 SNRPD2P;bA478K7.1 hypothetical protein LOC119358 APPROVED pseudo HGNC:31459 INFERRED 6481003 SNRPEP5 small nuclear ribonucleoprotein polypeptide E pseudogene 5 2 2 8743212 8743486 + 8603082 8603356 + 100874413 ABBA01015563;AC011747;AMYH02003237;NG_032554 pseudo HGNC:43447 INFERRED 6481006 SNRPEP6 small nuclear ribonucleoprotein polypeptide E pseudogene 6 6 6 148888517 148888790 - 148567381 148567654 - 100874414 ABBA01025696;AL033378;AMYH02014681;NG_032556 pseudo HGNC:43571 INFERRED 6481004 SNRPEP7 small nuclear ribonucleoprotein polypeptide E pseudogene 7 1 1 27537755 27537972 + 27211264 27211481 + 100874415 ABBA01034960;AL590640;AMYH02000595;NG_032557 pseudo HGNC:43572 INFERRED 6481020 SNRPEP8 small nuclear ribonucleoprotein polypeptide E pseudogene 8 10 10 54798045 54798300 + 53038285 53038540 + 100874423 ABBA01019380;AC069077;AMYH02023097;NG_032558 pseudo HGNC:43573 INFERRED 6481010 SNRPEP9 small nuclear ribonucleoprotein polypeptide E pseudogene 9 X X 24531524 24531799 + 24513407 24513682 + 100874416 ABBA01072328;AC004656;AMYH02039049;NG_032559 pseudo HGNC:43574 INFERRED 1342723 SNRPFP1 small nuclear ribonucleoprotein polypeptide F pseudogene 1 20 20 20 q13.13 45050731 45051098 - 48346109 48346476 - 49729572 49729939 - 170550 ABBA01052751;AL162615;AMYH02037218;NG_001056 2110525 MARC_39572-39407:1078175609:4 dJ1041C10.2 pseudo HGNC:16551 INFERRED 6481001 SNRPFP2 small nuclear ribonucleoprotein polypeptide F pseudogene 2 1 1 26213851 26214093 + 25887360 25887602 + 100874411 ABBA01034887;AL033528;AMYH02000549;NG_032338 pseudo HGNC:39665 INFERRED 6481005 SNRPFP4 small nuclear ribonucleoprotein polypeptide F pseudogene 4 3 3 48202667 48202904 + 48161177 48161414 + 100874412 ABBA01024656;AC124916;AMYH02006712;NG_032340 pseudo HGNC:39667 INFERRED 6481013 SNRPFP3 small nuclear ribonucleoprotein polypeptide F pseudogene 3 13 13 69675964 69676188 - 69101832 69102056 - 100874422 ABBA01050300;AL356264;AMYH02028212;NG_032339 pseudo HGNC:39666 INFERRED 1314912 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide 16kDa This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] 18 18 18 q11.2 15998296 16016243 + 19192260 19210208 + 21612299 21630247 + 6480464;6907045;8554872 10025403;10531003;10556282;10601333;10725331;10747849;10747894;10851237;10942426;11101529;11135666;11226169;11389857;11522829;11713266;11714716;11747828;11748230;11756452;11780068;11991638;12226669;12234937;12477932;12975319;14524621;14559993;15130578;15146077;15231747;15489334;15492215;16051665;16087681;16159877;16196087;16247014;1701240;17332742;17620599;18984161;19471022;19738201;19928837;20360068;21139048;21145461;21182205;21642987;21907836;22365833;22446626;22623428;22863883;22939629;23084401;23151878;23184937;23358685;23398456;23402259;23463506;23602568;23956138;24337577;24457600;24550385;2528429;3260384;7527560;9168134;9323129;9417867 6632 J3QLI9;J3QLR7;P62314 AB451227;AB451350;ABBA01022680;ABBA01022681;ABBA01022682;ABBA01022683;AC106037;AJ577268;AMYH02034380;BC001721;BC072427;BU565530;CH471088;CN354758;CR542239;HY043971;J03798;L36186;L36187;L36188;NM_001291916;NM_006938 AAA36620;AAA85339;AAH01721;AAH72427;BAG70041;BAG70164;CAE11897;CAG47035;EAX01130;NP_001278845;NP_008869;P62314 Hs.464734 1745973;1854801 RH124565;STS-J03798 HsT2456;SMD1;SNRPD;Sm-D1 Sm-D autoantigen;small nuclear ribonucleoprotein D1 polypeptide 16kDa pseudogene;small nuclear ribonucleoprotein Sm D1;snRNP core protein D1 APPROVED protein-coding ENSG00000167088 HGNC:11158 03040 601063 REVIEWED 5553007 SNRPEP4 small nuclear ribonucleoprotein polypeptide E pseudogene 4 19 19 19 p13.3 5513844 5514313 - 5576493 5576962 - 5576482 5576951 - 100130109 ABBA01056003;AC011533;AMYH02035327;CH471139;NG_023307 EAW69166 1851974 D1S3358 pseudo HGNC:43446 INFERRED 1314465 SNRPC small nuclear ribonucleoprotein polypeptide C This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009] 6 6 6 p21.31 36279328 36296094 + 34724871 34741634 + 34757094 34773857 + 1580863;6480464;6907045 10068039;10725331;10827180;11748230;12477932;12486009;15312772;15525645;15635413;16159877;17332742;1826349;18854154;21139048;21145461;21150319;21642987;21890473;21906983;22174317;22365833;22505724;22939629;22990118;23000965;23463506;23602568;2961811;2971157;8076607;8125298;8532530;8798632;8972845;9031639;9826776 6631 P09234;Q5TAL2;Q5TAL4 ABBA01038202;ABBA01038203;ABBA01038204;AI356808;AK223098;AK311955;AL139100;AMYH02013527;BC121082;BC121083;BU153661;BU508721;CD109745;CH471081;CS185544;M18465;NM_003093;NR_029472;X12517 AAA36618;AAI21083;AAI21084;BAD96818;BAG34895;CAA31037;CAJ42725;EAX03795;EAX03796;EAX03797;NP_003084;P09234 Hs.1063 2161258;5115496 G06174;STS-X12517 FLJ20302;U1-C;U1C;Yhc1 OTTHUMP00000016238;OTTHUMP00000016239;OTTHUMP00000016240;U1 small nuclear RNP specific C;U1 small nuclear ribonucleoprotein C;U1 snRNP C;U1 snRNP protein C APPROVED protein-coding HGNC:11157 04630 603522 REVIEWED 1345744 SNRPGP1 small nuclear ribonucleoprotein polypeptide G pseudogene 1 14 14 14 q22.1 30905514 30905905 - 51038492 51038883 - 50571774 50572165 - 326272 ABBA01018140;AL118556;AMYH02029169;NG_002533;NG_009028 SNRPGP APPROVED pseudo HGNC:20033 INFERRED 6481014 SNRPGP11 small nuclear ribonucleoprotein polypeptide G pseudogene 11 13 13 52070156 52070387 - 51496020 51496251 - 100874426 ABBA01051049;AL354820;AMYH02028033;NG_032254 pseudo HGNC:39330 INFERRED 6480908 SNRPGP12 small nuclear ribonucleoprotein polypeptide G pseudogene 12 10 10 111898972 111899184 - 110139214 110139426 - 100874427 ABBA01063035;AL590628;AMYH02023794;NG_032255 pseudo HGNC:39331 INFERRED 6480909 SNRPGP13 small nuclear ribonucleoprotein polypeptide G pseudogene 13 21 21 39874369 39874545 + 38502445 38502621 + 100874428 ABBA01011095;AMYH02037814;AP001037;NG_032256 pseudo HGNC:39332 INFERRED 1353294 SNRPG small nuclear ribonucleoprotein polypeptide G ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN spliceosomal snRNP assembly; PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN catalytic step 2 spliceosome; cytosol; methylosome; INTERACTS WITH cobalt dichloride; copper(2+) sulfate; hydralazine 2 2 2 p13.3 70359201 70371560 - 70508510 70520869 - 70281378 70293737 - 6480464;6907045;8554872 10531003;10556282;10601333;10725331;11226169;11574479;11714716;11748230;11991638;12165861;12226669;12234937;12477932;1387914;14603251;15130578;15146077;15489334;15939020;16169070;16189514;17207965;17332742;17353931;17643375;18984161;19471022;19928837;20360068;21139048;21145461;21745816;21890473;21906983;22174317;22365833;22505724;23000965;23151878;24778252;24816145;7744013;9020971;9417867 6637 C9JVQ0;F5H013;P62308;Q49AN9 ABBA01075534;ABBA01075535;AC079338;AMYH02004038;BC000070;BC022432;BC035103;BC066302;BC070166;BC071880;BC106055;CH471053;CR456918;CS185595;NM_003096;X85373 AAH00070;AAH22432;AAH35103;AAH66302;AAH70166;AAH71880;AAI06056;AAX81996;ADQ33142;CAA59689;CAG33199;CAJ42776;EAW99817;EAW99818;NP_003087;P62308 Hs.465167;Hs.516076;Hs.631639;Hs.654528 1339656;1727161;2119934;2150075;2184311;7183409 D2S2113;D2S2831;G62834;RH47273;SHGC-30019 MGC117317;SMG;Sm-G OTTHUMP00000160076;OTTHUMP00000204047;OTTHUMP00000204048;OTTHUMP00000204050;OTTHUMP00000204051;OTTHUMP00000237246;sm protein G;small nuclear ribonucleoprotein G;snRNP-G protein-coding ENSG00000143977 HGNC:11163 04646 603542 PROVISIONAL 6480904 SNRPGP14 small nuclear ribonucleoprotein polypeptide G pseudogene 14 13 13 50063106 50063500 + 49488970 49489364 + 100874434 ABBA01051016;AL139321;NG_032395 pseudo HGNC:42039 INFERRED 6480996 SNRPGP3 small nuclear ribonucleoprotein polypeptide G pseudogene 3 7 7 129117716 129117942 + 129477875 129478101 + 100874407 ABBA01057635;AC009244;AMYH02016732;NG_032250 pseudo HGNC:39322 INFERRED 1313451 SNRPF small nuclear ribonucleoprotein polypeptide F ENCODES a protein that exhibits RNA binding; INVOLVED IN RNA splicing; spliceosomal snRNP assembly; PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN catalytic step 2 spliceosome; cytosol; methylosome; INTERACTS WITH arsenous acid; cadmium atom; cobalt dichloride 12 12 12 q23.1 95921842 95929371 + 96252709 96260238 + 95858931 95866460 + 6480464;6907045;8554872 10025403;10531003;10556282;10601333;10725331;11226169;11574479;11714716;11748230;11756452;11971955;11991638;12226669;12234937;12477932;15130578;15146077;15231747;15489334;15939020;16159877;16169070;1688550;17332742;17353931;17643375;18781797;18984161;19322201;19738201;19928837;20360068;21139048;21145461;21319273;21642987;21890473;21906983;22174317;22365833;22505724;22623428;22863883;22939629;23000965;23151878;23349634;23402259;24457600;24778252;2522439;2974540;7744013;8889548;9020971;9417867 6636 F8W0W6;P62306 ABBA01053321;AC090001;AK311752;AMYH02026990;BC002505;BC063397;BC128452;BC128453;BM972965;BU861031;CH471054;CR456751;NM_003095;X85372 AAH02505;AAH63397;AAI28453;AAI28454;BAG34695;CAA59688;CAG33032;EAW97548;EAW97549;NP_003086;P62306 Hs.105465 1676236;2110525 MARC_39572-39407:1078175609:4;RH93038 SMF;Sm-F;snRNP-F OTTHUMP00000243551;sm protein F;small nuclear ribonucleoprotein F protein-coding HGNC:11162 04645 603541 VALIDATED 6481009 SNRPGP5 small nuclear ribonucleoprotein polypeptide G pseudogene 5 10 10 13146574 13146793 - 13104574 13104793 - 100874418 ABBA01034633;AL355355;AMYH02022167;NG_032251 pseudo HGNC:39324 INFERRED 5687903 SNRPGP6 small nuclear ribonucleoprotein polypeptide G pseudogene 6 10 10 q25.3 118168772 118169122 + 116409260 116409610 + 100861574 ABBA01062959;AC011328;AMYH02023869;NG_032066 pseudo HGNC:39325 INFERRED 6480999 SNRPGP7 small nuclear ribonucleoprotein polypeptide G pseudogene 7 2 2 28683123 28683228 - 28460256 28460361 - 100874408 ABBA01045232;AC104695;AMYH02003495;NG_032252 pseudo HGNC:39326 INFERRED 1350313 SNRPGP2 small nuclear ribonucleoprotein polypeptide G pseudogene 2 18 18 18 q21.2 48789053 48789283 - 51933254 51933484 - 54406884 54407114 - 100130003 ABBA01018716;AC090897;AMYH02034757;NG_027990 HsT2742 pseudo HGNC:30999 INFERRED 6481002 SNRPGP8 small nuclear ribonucleoprotein polypeptide G pseudogene 8 2 2 228643226 228643451 - 227778510 227778735 - 100874409 ABBA01050173;AC093762;AMYH02005926;NG_032253 pseudo HGNC:39327 INFERRED 7393682 SNRPGP15 small nuclear ribonucleoprotein polypeptide G pseudogene 15 ENCODES a protein that exhibits RNA binding (inferred); INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); FOUND IN spliceosomal complex (inferred) 19 19 19 p13.12 14493858 14494791 + 14600112 14600686 + 14489300 14489874 + 10737800;15057824;15489334;22939629 100130932 A8MWD9 ABBA01029665;AC012318;AMYH02035621;BF085802;BF367571;H97871;NG_029827 A8MWD9 Hs.631639 pseudo HGNC:49371 INFERRED 4889675 SNRPGP10 small nuclear ribonucleoprotein polypeptide G pseudogene 10 1 1 1 q32.1 178455550 178455774 + 205320349 205320756 + 205351221 205351628 + 100130289 ABBA01027418;AC098936;AMYH02002547;NG_028930 pseudo HGNC:39329 INFERRED 4889672 SNRPGP4 small nuclear ribonucleoprotein polypeptide G pseudogene 4 17 17 17 q24.3 63886425 63886656 + 67314831 67315231 + 69318690 69319090 + 100130368 ABBA01028947;AC115085;AMYH02033882;NG_028970;NG_034199 pseudo HGNC:39323 INFERRED 1318541 SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 53730377 53857491 + 69221050 69342955 + 69187147 69309052 + 1580863;6480464 10404183;10725395;10995443;11043403;11168526;11352924;11483505;12054535;12136098;12206805;12417987;12477932;12763866;12899872;14759258;15024025;15489334;16533813;16964243;17081983;18468998;19322201;19615732;19786618;20467438;21139048;21906983;22721673;22735534;22937058;23314748;23443559;23782696;24255178;8183929;8576247;9412493 6645 H0YCS0;H7BY41;J3KT21;Q13425 ABBA01025517;ABBA01025518;ABBA01025519;ABBA01025520;ABBA01025521;ABBA01025522;ABBA01025523;ABBA01025524;ABBA01025525;ABBA01025526;AC009131;AC026464;AC026474;AC208009;AF243385;AJ329412;AJ331949;AMYH02032271;AMYH02032272;AMYH02032273;AMYH02032274;AMYH02032275;AMYH02032276;BC031058;BC035134;BC036429;BC048215;CH471092;NM_006750;U40572;XM_005256120 AAC50449;AAH48215;AAK15149;ACE86457;ACE87138;EAW83258;EAW83259;EAW83260;NP_006741;Q13425;XP_005256177 Hs.461117 1697868;1698570;1854857;2115798;2173868;5022578;5109281;5117066 D1S1423;D1S1425;GDB:433966;RH102462;RH102837;RH70742;SHGC-53808;SHGC-61114 D16S2531E;EST25263;SNT2B2;SNT3;SNTL 59 kDa dystrophin-associated protein A1 basic component 2;OTTHUMP00000174888;beta-2-syntrophin;dystrophin-associated protein A1, 59kD, basic component 2;syntrophin-3;syntrophin-like APPROVED protein-coding ENSG00000168807 HGNC:11169 02491 600027 REVIEWED 4889753 SNRPGP9 small nuclear ribonucleoprotein polypeptide G pseudogene 9 2 2 2 q13 104177130 104177357 + 109867790 109868295 + 109251334 109251839 + 100506574 ABBA01000773;AC010906;AMYH02004518;NG_028932 small nuclear ribonucleoprotein G-like pseudo HGNC:39328 INFERRED 1343749 SNRPN small nuclear ribonucleoprotein polypeptide N The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 3232650 3826611 + 25068794 25223730 + 24823647 24978582 + 1601354;6480464;7240710;8699517;8554872 8723064 10318933;10556313;10725331;11106375;11149922;11159938;11317358;11713266;11726556;12045206;12244096;12456665;12477932;1303277;14500540;14702039;14715275;15014980;15105431;1533223;15489334;15565282;15939761;16116039;16169070;16357227;17262171;17353931;17361185;17643375;17903307;18361419;18362360;18627066;18662664;18951082;18984161;19595458;20301505;20301615;20467438;20582452;21227640;21233802;21890473;21906983;21988832;22190034;22505724;22711311;23000965;23040914;23251661;24024966;24365028;24457600;24657165;24722188;24816145;2522186;2522449;2528429;2753153;7512861;7849716;8125298;8363612;8571960;8841186;8845846;9070929;9417867;9590284;9915945;9931342 6638 J3KRY3;J3QLE5;P63162;X5DP00 ABBA01048688;AC090602;AC090983;AC100774;AC124303;AC124312;AC124997;AF087645;AF087646;AF087647;AF087648;AF087649;AF092911;AF134832;AF148319;AF319522;AF319523;AF319524;AF400432;AF400485;AF400486;AF400487;AF400488;AF400489;AF400490;AF400491;AF400492;AF400493;AF400494;AF400495;AF400496;AF400497;AF400498;AF400499;AF400500;AF400501;AF400502;AK123119;AK222633;AL832758;AMYH02030090;AMYH02030091;AMYH02030092;AMYH02030093;AMYH02030094;AY362862;AY362863;AY362864;AY362865;AY362866;AY421730;BC000611;BC003180;BC016168;BC018809;BC024777;BC025178;BC035280;BC080646;BC113069;BX648788;CH471151;CR450350;J04615;KJ534946;L80004;L80005;NG_002690;NG_012958;NM_003097;NM_022805;NM_022806;NM_022807;NM_022808;U41303;U81001;X15892;X16163 AAA36617;AAA98969;AAD54487;AAH00611;AAH03180;AAH24777;AAH25178;AAK18178;AAK92481;ABM83812;ABM87134;AHW56586;BAD96353;BAG53873;CAA33901;CAA34288;CAG29346;CAI46029;EAW57613;EAW57614;EAW57615;EAW57616;EAW57617;EAW57618;EAW57619;EAW57620;EAW57621;EAW57622;EAW57623;NP_003088;NP_073716;NP_073717;NP_073718;NP_073719;P63162 Hs.555970;Hs.564847;Hs.578619;Hs.585703;Hs.621316;Hs.632166;Hs.728856;Hs.731866;Hs.733072;Hs.737651 1337014;1644179;1651412;1662615;1669387;1669639;1671956;1672082;1678695;1679952;1680110;1680655;1681281;1687153;1694520;1694906;1697786;1705888;1708344;1718435;1722397;1722411;1724621;1730469;1733644;1733648;1733656;1733664;1733832;1733836;1733840;1736488;1736494;1743441;1744157;1751459;1759079;1767093;1767677;1767679;1771047;1787840;1789298;1792182;1793038;1794914;1794916;1798304;1853298;2114727;2115099;2121693;2133548;2137387;2142972;2145162;2146087;2146176;2149074;2164323;2164969;2166427;2169737;2175813;2176155;2176878;2179846;2183376;2183559;2220378;5015861;5016478;5022578;5022651;5037552;5093794;5117879;5492176;5492178;7184754;7185923;7185938 1084;A003A06;BCD1279;D10S16;D11S2921;D15S1089;D15S128;D15S164E;D15S612E;D15S613E;D15S618E;D15S626E;D15S63;D15S631E;D15S672;D15S674;D15S676;D15S698E;D15S701E;D15S824;D15S837;D15S839;D15S903;D1S1423;D8S2279;G31495;G32928;G43004;G44340;G60271;G60278;G67875;GDB:335240;GDB:424492;GDB:434012;GDB:626138;PMC139148P1;PMC19156P1;PMC84611P2;PMC84611P3;RH102417;RH11312;RH11332;RH121309;RH122419;RH12800;RH39444;RH45096;RH65064;RH68062;RH70205;RH70315;RH77804;RH78150;RH79621;RH79645;RH91324;SHGC-105287;SHGC-132610;SHGC-31492;SHGC-33389;SHGC-3356;SHGC-36523;SHGC-59943;SHGC-81103;SHGC-81208;STS-H75355;STS-H93310;STS-N21972;UBE3A_1455;Ube3a;UniSTS:480915;WI-11918;WI-13724;WI-13791;WI-14946;WI-15028;WI-15655 DKFZp686C0927;DKFZp686M12165;DKFZp761I1912;DKFZp762N022;FLJ33569;FLJ36996;FLJ39265;HCERN3;MGC29886;PWCR;RT-LI;SM-D;SMN;SNRNP-N;SNURF-SNRPN;sm-N OTTHUMP00000159463;OTTHUMP00000246275;OTTHUMP00000246279;OTTHUMP00000246280;SM protein N;sm protein D;small nuclear ribonucleoprotein-associated protein N;tissue-specific splicing protein;tissue-specific-splicing protein APPROVED protein-coding ENSG00000128739 HGNC:11164 01653 176270;182279 REVIEWED 1347731 SNTG1 syntrophin, gamma 1 The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This gene is specifically expressed in the brain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] 8 8 8 q11.21 46812529 47693284 + 50822349 51706171 + 49909789 50794118 + 1580863;6480464;8554872 10747910;11062261;11076863;11230166;11256614;11352924;12477932;12832401;12877659;15088139;15485858;15489334;15489336;15761153;16344560;16381901;16533813;17903307;20379614;20416077;21358174;23314748;23382691 54212 B2RA84;E5RHN6;E5RIN0;H0YC21;Q9NSN8 ABBA01041675;ABBA01041676;ABBA01041677;ABBA01041678;ABBA01041679;ABBA01041680;ABBA01041681;ABBA01041682;ABBA01041683;ABBA01041684;ABBA01041685;ABBA01041686;ABBA01041687;AC023762;AC023842;AC087173;AC087366;AC090450;AC090539;AC103784;AC104376;AJ003030;AK314084;AL161971;AMYH02017953;AMYH02017954;AMYH02017955;AMYH02017956;AMYH02017957;AMYH02017958;AMYH02017959;AX405934;BC075072;BC104829;BC143695;CH471068;DA237404;DN995011;KF458751;KF458755;NM_001287813;NM_001287814;NM_018967;XM_006716456 AAH75072;AAI04830;BAG36781;CAB82311;CAB92968;CAD35041;CAL38547;EAW86704;EAW86705;EAW86706;NP_001274742;NP_001274743;NP_061840;Q9NSN8;XP_006716519 Hs.584914;Hs.591869 1335318;1340144;1657370;1682994;1706278;1708394;1714169;1716395;1720233;1726561;1726827;1752067;1752087;1765251;1779646;1850346;2114278;2125914;2136509;2177556 AFM189yg1;B353XD9;D8S1133;D8S1652;D8S589;G32166;G62662;G62805;RH119693;RH121378;RH123865;RH27231;RH66337;SHGC-106016;SHGC-106022;SHGC-148740;SHGC-153621;SHGC-80691;SHGC-82879;WI-20652 G1SYN;SYN4 OTTHUMP00000226271;OTTHUMP00000226272;OTTHUMP00000226273;OTTHUMP00000226275;gamma-1-syntrophin;gamma1-syntrophin;syntrophin 4;syntrophin-4 APPROVED protein-coding ENSG00000147481 HGNC:13740 16373 608714 REVIEWED 2306150 SNTN sentan, cilia apical structure protein ENCODES a protein that exhibits calcium ion binding (inferred); FOUND IN cilium (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); furan (ortholog); titanium dioxide (ortholog) 3 3 3 p14.2 63655601 63668154 + 63638344 63650893 + 63652668 63665217 + 6480464 16641997;18829862 132203 A6NMZ2;C9JRU3;C9JXY5 ABBA01024317;AC136289;AK126350;AMYH02006947;BR000723;NM_001080537 A6NMZ2;FAA00429;NP_001074006 Hs.130704 1656156;5015861;5037552;7185938 D10S16;D3S4105;D8S2279 FLJ44379;S100A1L;S100AL OTTHUMP00000213412;OTTHUMP00000213413;OTTHUMP00000213414;Protein S100-A1-like;S100 calcium-binding protein A1-like;S100A-like protein;sentan protein-coding HGNC:33706 PROVISIONAL 1350202 SNTG2 syntrophin, gamma 2 This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008] 2 2 2 p25.3 1012573 1421170 + 946554 1371401 + 950868 1367629 + 1580863;6480464;8554872 10747910;11329013;12429735;12477932;17292328;22721673;23061379;23782696 54221 F2Z2D2;Q9NY99 ABBA01003643;ABBA01003644;ABBA01003645;ABBA01003646;ABBA01035637;ABBA01035638;ABBA01035639;ABBA01035640;ABBA01035641;ABBA01035642;ABBA01035643;ABBA01035644;AC108462;AC108489;AC114808;AC116614;AC140476;AC144444;AC144527;AC206596;AC225604;AJ003029;AMYH02003168;AMYH02003169;AMYH02003170;AMYH02003171;AMYH02003172;BC035783;BC125251;BG208326;CH471053;KF456628;KF456630;KF456632;NG_029707;NM_018968;XM_006711888;XM_006711889;XM_006711890 AAI25252;CAB92969;EAX01092;NP_061841;Q9NY99;XP_006711951;XP_006711952;XP_006711953 Hs.595069 1684034;1709820;1712621;1748795;1784212 RH120160;RH99251;SHGC-110410;SHGC-155704;SHGC-84728 G2SYN;MGC133174;SYN5 OTTHUMP00000199935;OTTHUMP00000199936;gamma-2-syntrophin;gamma2-syntrophin;syntrophin 5;syntrophin-5 APPROVED protein-coding ENSG00000172554 HGNC:13741 16374 608715 REVIEWED 1604407 SNURFL SNRPN upstream reading frame-like, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); alachlor (ortholog); ammonium chloride (ortholog) X X X q27 138809630 138810172 + 138444099 138444641 + 139361940 139362482 + 6480464 727686 B1AK76 ABBA01066019;AL035262;AMYH02040610;NG_005696 B1AK76 CXorf19 APPROVED pseudo HGNC:29543 INFERRED 1353124 SNUPN snurportin 1 The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q24.2 52816555 52843715 - 75890424 75918719 - 75598083 75626378 - 1580863;6480464 10209022;10531003;12095920;12477932;14702039;15130578;15489334;15920472;16030253;16169070;19389996;19619473;21139048;21890473;21900206;21906983;21963094;21988832;22505724;22833565;24326307;9670026 10073 H3BQR0;H3BRI5;H3BSK1;H3BTA6;H3BUB4;O95149 ABBA01060532;ABBA01060533;ABBA01060534;ABBA01060535;ABBA01060536;ABBA01060537;ABBA01060538;AC105020;AC105036;AF039029;AK054641;AK289475;AMYH02030819;AMYH02030820;BC004203;BU945130;CD244425;CH471136;CR456811;KF456094;NM_001042581;NM_001042588;NM_005701 AAC70906;AAH04203;ABM84014;ABM87359;BAF82164;BAG51404;CAG33092;EAW99245;EAW99246;NP_001036046;NP_001036053;NP_005692;O95149 Hs.21577 2109765;2160654 RNUT1_9037;WI-12418 KPNBL;RNUT1;Snurportin1 OTTHUMP00000183516;RNA U transporter 1;RNA, U transporter 1;snurportin-1 APPROVED protein-coding ENSG00000169371 HGNC:14245 07441 607902 REVIEWED 736038 SNURF SNRPN upstream reading frame This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. [provided by RefSeq, Jul 2008] 15 15 15 q12 3362072 3385724 + 25200070 25223729 + 24954923 24978582 + 634164;1580863;6480464;8554872 10318933 11696545;11726556;12477932;15014980;15489334;16116039;16344560;17207965;21227640;21832049;22511895;22679513;23602568;2522186;2522449;2528429;2753153;8363612;8571960;8845846 8926 G3V4N2;Q9Y675 ABBA01048688;AC090602;AC124312;AF101044;AI017249;AK098563;AMYH02030094;AW451120;CH471151;DA134019;NG_002690;NG_012958;NM_005678;NM_022804 AAD31391;ADQ31631;EAW57625;EAW57626;EAW57627;NP_005669;NP_073715;Q9Y675 Hs.564847 1680110;1694520;1718435;1743441;1793038;1794914;1794916;1853298;2115099;2145162;2175813;2179846;5117879 G31495;G43004;GDB:335240;GDB:626138;PMC19156P1;PMC84611P2;PMC84611P3;RH122419;RH68062;RH70205;RH91324;SHGC-31492;SHGC-59943 OTTHUMP00000159464;SNRPN upstream reading frame protein APPROVED protein-coding HGNC:11171 18083 REVIEWED 1317088 SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008] 8 8 8 q23-q24 117736336 118012396 - 121547985 121825599 - 120535745 120813061 - 1580863;6480464;8554872 10212242;10545507;11069112;11168526;11352924;12136098;12477932;12665801;15024025;15489334;16192269;16192270;16192292;16533813;18468998;19343720;20208534;20889312;22721673;23406873;23782696;23933737;24024966;24255178;24816145;7844150;8119949;8183929;8576247;9412493;9482110 6641 E5RIX7;Q13884 ABBA01037837;ABBA01037838;ABBA01037839;AC104958;AC105142;AC129906;AF028828;AJ333934;AK025100;AK026095;AK292655;AMYH02018684;AMYH02018685;AMYH02018686;BC023571;BC098573;CH471060;L31529;NM_021021;XM_005251031;XM_005251032 AAA81523;AAB84253;AAH98573;BAF85344;EAW92008;NP_066301;Q13884;XP_005251088;XP_005251089 Hs.46701 1336951;1652670;1688943;1721917;1724317;1755453;2125373;2127517;2137433;2142152;2158109 D8S1112;D8S1999;G59991;RH119080;RH45192;RH92195;SHGC-142320;STS-N30895;WI-17164;WI-17825;WIAF-2216 59-DAP;A1B;BSYN2;DAPA1B;FLJ22442;MGC111389;SNT2;SNT2B1;TIP-43 59 kDa dystrophin-associated protein A1 basic component 1;OTTHUMP00000228252;OTTHUMP00000228253;beta-1-syntrophin;dystrophin-associated protein A1, 59kD, basic component 1;syntrophin-2;tax interaction protein 43 APPROVED protein-coding ENSG00000172164 HGNC:11168 02490 600026 REVIEWED 1321977 SNW1 SNW domain containing 1 This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 58222440 58266009 - 78183942 78227542 - 77717599 77761201 - 1580863;6480464;6907045 10644367;10713164;11278756;11371506;11404076;11509665;11514567;11522815;11991638;12101239;12466551;12477932;12508107;12508121;12529369;12549820;12650714;12840015;14985122;15194481;15316101;15489334;15546612;15604093;15635413;15878163;15905409;16002321;16083285;16102918;16159877;16169070;16595688;17643375;18029348;18654987;18729074;18854154;18996344;19616115;19818711;19852851;19934264;20007319;20056645;20211142;20227660;20360068;20368803;20467438;20508642;20965173;21139048;21145461;21460037;21461980;21900206;22172677;22178446;22365833;22586326;22872573;22939629;22944692;23000965;23084401;23443559;23566155;23696020;23752268;24163370;24250222;24457600;24816145;9569025;9632709 22938 G3V3A4;G3V4E0;G3V4X8;G3V5R3;Q13573 ABBA01030643;ABBA01030644;ABBA01030645;ABBA01030646;AC008044;AC008372;AF045184;AK292274;AK293619;AK302246;AK316087;AMYH02029577;AX775981;BC032377;BC040112;BC046105;BC065286;BC105585;BC108902;BC108903;BT020060;BT020061;CH471061;CR457433;NM_012245;U43960;U51432;XM_005267413;XM_005267414 AAB48857;AAC15912;AAC31697;AAF01479;AAF23325;AAH40112;AAH46105;AAH65286;AAI05586;AAI08904;AAV38863;AAV38864;BAF84963;BAG57078;BAG63598;BAH14458;CAE11690;CAG33714;EAW81305;EAW81306;EAW81307;EAW81308;NP_036377;Q13573;XP_005267470;XP_005267471 Hs.445498 1661609;1798210;1846816;1848417;2120130;2158702;2173187;5016810;5093162;5123040 A009H42;D14S120;D14S691E;D14S857;G32556;G35431;G36348;RH70062;SHGC-75044;SNW1_2342 Bx42;MGC119379;NCOA-62;PRPF45;Prp45;SKIIP;SKIP OTTHUMP00000246312;OTTHUMP00000246313;OTTHUMP00000246315;SKI interacting protein;SKI-interacting protein;SNW domain-containing protein 1;homolog of Drosophila BX42;nuclear protein SkiP;nuclear receptor coactivator NCoA-62;nuclear receptor coactivator, 62-kD APPROVED protein-coding ENSG00000100603 HGNC:16696 04340 603055 REVIEWED 1316039 SNTA1 syntrophin, alpha 1 Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013] 20 20 20 q11.2 28749527 28785451 - 31995763 32031698 - 33407957 33443892 - 1580863;5148023;6480464;6771370;6771369;8554872;8699517 19684871;20009079;20886625 10212242;10221915;10230395;10373412;10404183;10545507;10995443;11069112;11163757;11168526;11278583;11352924;11551227;11571312;11717465;11747091;11780052;12206805;12477932;14623885;14702039;14722086;15024025;15123239;15489334;16169070;16192269;16192273;16192274;16344560;16533813;16637659;17081983;17628813;18045536;18468998;18591664;19931615;20301308;21091386;22721673;23376825;23426965;23782696;24014171;24235139;24434436;7890602;8576247;8612778;9356463;9412493;9512352 6640 B4DX40;Q13424;Q29RY0 ABBA01019233;ABBA01019234;AK095942;AK291994;AK301800;AL355392;AMYH02036946;AMYH02036947;AMYH02036948;AU118614;BC026215;BC113813;CH471077;NG_011622;NM_003098;S81737;U40571;XM_005260517 AAB36398;AAC50448;AAH26215;AAI13814;ABM84492;ABM87815;BAF84683;BAG53172;BAG63252;EAW76314;EAW76315;EAW76316;EAW76317;NP_003089;Q13424;XP_005260574 Hs.31121 2107643;2116069;2159841;2169507;5092774 A006C20;D20S724;G32321;RH41835;SNTA1__6874 LQT12;SNT1;TACIP1;dJ1187J4.5 59 kDa dystrophin-associated protein A1 acidic component 1;OTTHUMP00000030650;acidic alpha 1 syntrophin;alpha-1-syntrophin;dystrophin-associated protein A1, 59kDa, acidic component;pro-TGF-alpha cytoplasmic domain-interacting protein 1;syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component);syntrophin-1 APPROVED protein-coding ENSG00000101400 HGNC:11167 03009 601017 REVIEWED 1316444 SNX11 sorting nexin 11 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 42639285 42654466 + 46184911 46200109 + 48107549 48122747 + 1580863;6480464 11485546;12461558;12477932;14702039;15489334;21139048;22949513;23000965;23615901 29916 B4DJI7;B4DKH7;J3KTN6;J3QKV3;J3QLV8;J3QRB9;J3QRW4;Q9Y5W9 ABBA01041157;ABBA01041158;ABBA01041159;AC006468;AF121861;AK023932;AK091852;AK296095;AK296569;AK298551;AK316374;AMYH02033537;AX883379;BC000768;BC103721;BT006723;CH471109;NM_013323;NM_152244;XM_005257260;XM_005257261;XM_005257262 AAD27834;AAH00768;AAI03722;AAP35369;BAB14732;BAG52428;BAG58849;BAG59189;BAG60747;BAH14745;CAE91950;EAW94752;EAW94753;EAW94754;EAW94755;EAW94756;EAW94757;NP_037455;NP_689450;Q9Y5W9;XP_005257317;XP_005257318;XP_005257319 Hs.15827 1675708;1690954;1775679;2110753;2115325;2183368;2191453;5115618 G29178;MARC_23527-23528:1027525177:1;RH78521;RH91353;RH93763;SNX11;SNX11__6877;STS-W38157 MGC111019 sorting nexin-11 APPROVED protein-coding ENSG00000002919 HGNC:14975 15410 614906 REVIEWED 1350610 SNX12 sorting nexin 12 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. A similar protein in mouse may be involved in regulating the neurite outgrowth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] X X X q13.1 70634675 70642112 - 70207156 70293276 - 70987306 71073426 - 1580863;6480464 11485546;12461558;12477932;15489334;15592455;16166738;16344560;17081983;17474147;21139048;21890473;21906983;21963094;22109349;22709416;22719997;22939629;23000965;24816145 29934 Q3SYF1;Q9UMY4 ABBA01067657;ABBA01067658;ABBA01067659;ABBA01067660;AF171229;AK025781;AK312977;AL590764;AL627071;AMYH02039670;AMYH02039671;BC020559;BC024301;BC033809;BC044059;BC063716;BC080535;BC103847;BC103848;BC108323;BM805683;BT007203;CH471132;DA439434;DA736880;DA847821;DB251077;DB482683;NM_001256185;NM_001256186;NM_001256187;NM_001256188;NM_013346;XM_006724642;XM_006724643;XR_244493 AAD48491;AAI03848;AAI03849;AAP35867;BAG35814;EAX05323;EAX05324;EAX05325;NP_001243114;NP_001243115;NP_001243116;NP_001243117;NP_037478;Q9UMY4;XP_006724705;XP_006724706 Hs.260750 1790199;2165055;2171699;5015861;5016596;5016851;5017433;5021228;5022651;5024413;5037552;7185938 BI293668;D10S16;D11S2921;D8S2279;GDB:312794;GDB:631802;L17877;RH77702;RH80031;SHGC-31769;STS-T76997 FLJ22128;MGC118982;MGC118983 OTTHUMP00000023487;OTTHUMP00000023488;sorting nexin-12 APPROVED protein-coding ENSG00000147164 HGNC:14976 06719 300883 REVIEWED 733907 SNX16 sorting nexin 16 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The function of this protein has not been determined. This gene results in three transcript variants encoding two distinct isoforms. [provided by RefSeq, Jul 2008] 8 8 8 q21.13 78716410 78759118 - 82711816 82754539 - 81799581 81842304 - 6480464;8554872 11485546;11736640;12461558;12477932;12813048;15489334;16344560;17207965;19322201;19754948;20445134;22219177;23535730 64089 E5RG30;E5RGQ6;E5RGS8;E5RH07;E5RHF1;E5RJ65;E5RJ81;P57768 ABBA01004049;ABBA01004050;AC087349;AC132219;AF305779;AK290903;AL833763;AMYH02018315;AMYH02018316;BC033630;BG700892;BG739930;CB962009;CH471068;DA307370;NM_022133;NM_152836;NM_152837;XM_005251282;XM_005251283;XM_005251284 AAG25676;AAH33630;ADQ32489;BAF83592;CAH56235;EAW87108;EAW87109;NP_071416;NP_690049;NP_690050;P57768;XP_005251339;XP_005251340;XP_005251341 Hs.492121 DKFZp666H147 OTTHUMP00000227313;OTTHUMP00000227314;sorting nexin-16 APPROVED protein-coding ENSG00000104497 HGNC:14980 15411 614903 REVIEWED 1314058 SNX15 sorting nexin 15 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) gene. [provided by RefSeq, Dec 2010] 11 11 11 q12 62120841 62133975 + 64794880 64808044 + 65027408 65040572 + 1580863;6480464;8554872 11085978;11181995;11208079;12477932;12676568;14702039;15372247;15489334;16169070;16189514;16344560;18029348;19738201;20843780;22939629;23455924;23986476;8125298;9253601 29907 E5KQS5;E9PK26;E9PMW6;E9PNI5;E9PR81;Q9NRS6 AB209439;ABBA01024137;ABBA01024138;AF001435;AF175267;AF175268;AK315034;AK315642;AMYH02024949;AMYH02024950;AP000436;AP003068;BC009897;BC012767;BC014520;BE547440;BE884806;BT006631;BX444780;CH471076;DA079695;HQ205586;HQ205587;HQ205588;HQ205589;HQ205590;HQ205591;HQ205592;HQ205593;HQ205594;HQ205595;HQ205596;HQ205597;HQ205598;HQ205599;HQ205600;HQ205601;HQ205602;HQ205603;HQ205604;HQ205605;HQ205606;HQ205607;HQ205608;HQ205609;HQ205610;HQ205611;HQ205612;HQ205613;HQ205614;HQ205615;HQ205616;HQ205617;HQ205618;HQ205619;HQ205620;HQ205621;HQ205622;HQ205623;HQ205624;HQ205625;NG_029947;NM_013306;NM_147777 AAB81205;AAF89955;AAF89956;AAH09897;AAH12767;AAH14520;AAP35277;ADP91254;ADP91255;ADP91256;ADP91257;ADP91258;ADP91259;ADP91260;ADP91261;ADP91262;ADP91263;ADP91264;ADP91265;ADP91266;ADP91267;ADP91268;ADP91269;ADP91270;ADP91271;ADP91272;ADP91273;ADP91274;ADP91275;ADP91276;ADP91277;ADP91278;ADP91279;ADP91280;ADP91281;ADP91282;ADP91283;ADP91284;ADP91285;ADP91286;ADP91287;ADP91288;ADP91289;ADP91290;ADP91291;ADP91292;ADP91293;ADP91294;ADP91295;ADP91296;ADP91297;ADP91298;ADP91299;ADP91300;ADP91301;ADP91302;ADP91303;ADP91304;ADP91305;ADP91306;ADP91307;ADP91308;ADP91309;ADP91310;ADP91311;ADP91312;ADP91313;ADP91314;ADP91315;ADP91316;ADP91317;ADP91318;ADP91319;ADP91320;ADP91321;ADP91322;ADP91323;ADP91324;ADP91325;ADP91326;ADP91327;ADP91328;ADP91329;ADP91330;ADP91331;ADP91332;ADP91333;BAD92676;BAG38009;EAW74334;EAW74336;EAW74337;NP_037438;NP_680086;Q9NRS6 Hs.80132 1664377;2155924;5015404;5015961 D11S4936;D15S1477;L17705;RH11499 HSAF001435 OTTHUMP00000035515;OTTHUMP00000230789;OTTHUMP00000230840;OTTHUMP00000230841;clone iota unknown protein;sorting nexin-15 APPROVED protein-coding ENSG00000110025 HGNC:14978 12073 605964 REVIEWED 1315030 SNX17 sorting nexin 17 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012] 2 2 2 p23-p22 27440055 27446660 + 27593363 27600400 + 27370496 27377533 + 1580863;6480464;8554872 10942595;11237770;11485546;12169628;12477932;12665801;14739284;15121882;15231748;15489334;15769472;15815621;16052210;16344560;16712798;17474147;18029348;18276590;19005208;20226821;21139048;21890473;21988832;22151726;22492727;22505724;22747683;23115288;23726366;24816145;7584044;8125298 9784 B4DDM3;B4DQ37;B4DTB8;F8WAZ0;F8WEG6;F8WFA0;Q15036 ABBA01045203;AC074117;AJ404855;AK129689;AK222543;AK293252;AK293464;AK295278;AK297054;AK298620;AK298856;AK298869;AK300144;AK300641;AK307122;AK308487;AK309640;AK316373;AMYH02003476;BC002524;BC002610;BC014620;BC021108;BC032320;BC050590;BT007167;CH471053;CQ834622;CR457081;D31764;DB177194;NM_001267059;NM_001267060;NM_001267061;NM_014748;NR_049782;NR_049783;NR_049784;NR_049785;NR_049786;NR_049787;NR_049788;XM_006712154 AAH02524;AAH02610;AAH14620;AAH50590;AAP35831;AAY14844;BAA06542;BAD96263;BAG56784;BAG56959;BAG58262;BAG59579;BAG60799;BAG60979;BAG60989;BAG61930;BAG62330;BAH14744;CAC12897;CAG33362;CAH05526;EAX00584;EAX00585;EAX00586;NP_001253988;NP_001253989;NP_001253990;NP_055563;Q15036;XP_006712217 Hs.278569 1664351;1678733;1688979;2110131;2110135;2110137;2110139;2110143;2110147;2147203;2158404 D2S2598;RH25297;RH75415;RSA000987699;RSA000987708;RSA000987715;RSA000987719;RSA001081057;RSA001334633;WI-19785;WIAF-1573 KIAA0064 OTTHUMP00000123418;sorting nexin-17 APPROVED protein-coding ENSG00000115234 HGNC:14979 05812 605963 REVIEWED 1322101 SNX14 sorting nexin 14 This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] 6 6 6 q14.3 86642396 86730827 - 86215214 86303850 - 85505496 85594140 - 1580863;6480464;8554872 11485546;11500980;11736640;12461558;12477932;14702039;15489334;17370265;18160415;21139048;21890473;21906983;21963094;23000965;24250222 57231 D6RBA7;D6RDA6;D6RDH9;D6REK1;D6RJG9;E2QRM8;H0Y926;Q5JRQ0;Q9Y5W7 ABBA01040476;ABBA01040477;AF121863;AJ420561;AK000362;AK026479;AK095380;AK125063;AK226097;AK295417;AL136082;AL589666;AMYH02014038;AY044865;BC005110;BC046520;BC068589;BC095419;BI458735;BI463232;CB054302;CH471051;DA491624;NM_001297614;NM_020468;NM_153816;NR_123729;XM_005248738;XM_005248739;XM_005248740 AAD27836;AAH05110;AAH46520;AAH68589;AAH95419;AAK97796;BAG58367;EAW48631;EAW48632;EAW48633;NP_001284543;NP_065201;NP_722523;Q9Y5W7;XP_005248795;XP_005248796;XP_005248797 Hs.485871 1760817;1771125 SHGC-144447;SHGC-37370 MGC13217;RGS-PX2;RP11-321N4.2 OTTHUMP00000016812;OTTHUMP00000016813;OTTHUMP00000220881;OTTHUMP00000220929;OTTHUMP00000220930;OTTHUMP00000220931;OTTHUMP00000220932;sorting nexin-14 APPROVED protein-coding ENSG00000135317 HGNC:14977 11590 REVIEWED 1321231 SNX18 sorting nexin 18 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q11.2 50767064 50795890 + 53813589 53842416 + 54517759 54546586 + 1580863;6480464 11485546;11736640;12461558;12477932;14679214;14702039;15146197;15326289;15851553;16782399;17072306;17761170;18411244;19807924;20427313;20491914;21145461;21706016;21906983;21969467;22542470;22718350;23878278;24255178 112574 Q96RF0 ABBA01015729;AC091888;AF395536;AI335241;AI669182;AK022059;AK057122;AK304195;AMYH02011303;BC060791;BC067860;BC117218;BC117220;BJ990551;BJ990552;CD722181;CH471123;CN360136;CN479485;NM_001102575;NM_001145427;NM_052870 AAH60791;AAH67860;AAI17219;AAI17221;AAK82415;BAG65075;EAW54894;NP_001096045;NP_001138899;NP_443102;Q96RF0 Hs.432755;Hs.606166 1659648;2121610 RH65215;SHGC-64864 FLJ11997;FLJ32560;FLJ61062;MGC150827;MGC150829;SH3PX2;SH3PXD3B;SNAG1 OTTHUMP00000122476;OTTHUMP00000122477;SH3 and PX domain-containing protein 3B;sorting nexin associated golgi protein 1;sorting nexin-18;sorting nexin-associated Golgi protein 1 APPROVED protein-coding ENSG00000178996 HGNC:19245 15407 REVIEWED 5128980 SNX18P10 sorting nexin 18 pseudogene 10 21 21 9689973 9690726 - 8801140 8801893 - 100419040 CR381670;NG_025018 pseudo HGNC:39618 INFERRED 5128969 SNX18P11 sorting nexin 18 pseudogene 11 21 21 9931701 9932442 + 9092868 9093609 + 100419043 AMYH02037503;CR392039;NG_025050 pseudo HGNC:39619 INFERRED 5128971 SNX18P12 sorting nexin 18 pseudogene 12 21 21 10203291 10204871 - 9364458 9366038 - 100419041 AMYH02037505;CR381653;NG_025020 pseudo HGNC:39620 INFERRED 5128970 SNX18P13 sorting nexin 18 pseudogene 13 21 21 15278059 15279641 - 13905738 13907320 - 100419042 AP001466;NG_025024 pseudo HGNC:39621 INFERRED 5128990 SNX18P14 sorting nexin 18 pseudogene 14 2 2 2 89802618 89804090 - 95452217 95453689 - 94786472 94787944 - 100418972 ABBA01003584;AC073464;AMYH02004297;NG_023589 pseudo HGNC:39622 INFERRED 5128978 SNX18P15 sorting nexin 18 pseudogene 15 1 142660008 142660761 - 100419019 AL583842;AMYH02001840;NG_026981 pseudo HGNC:39623 INFERRED 5128981 SNX18P16 sorting nexin 18 pseudogene 16 1 142688145 142689733 - 100419020 ABBA01031128;AL583842;AMYH02001840;NG_026982 pseudo HGNC:39624 INFERRED 5128975 SNX18P17 sorting nexin 18 pseudogene 17 1 1 142850772 142851522 + 69750 70500 + 100419024 BX572084;NG_027137 pseudo HGNC:39625 INFERRED 5128979 SNX18P18 sorting nexin 18 pseudogene 18 1 1 143156455 143157208 - 38694 39447 - 100419021 AMYH02001842;BX571672;NG_026983 pseudo HGNC:39626 INFERRED 5128977 SNX18P19 sorting nexin 18 pseudogene 19 1 143184614 143186190 - 100419022 AMYH02001842;BX571672;NG_026984 pseudo HGNC:39627 INFERRED 68962 SNX1 sorting nexin 1 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 15 15 15 q22.31 41267592 41315422 + 64386275 64436433 + 64094076 64144234 + 6480464 11102511;11110793;11278302;11279102;11309204;11410165;11997453;12058063;12198132;12477932;12657642;15489334;15498486;15673616;15882442;16407403;16487940;17101778;17145813;17502486;18029348;18088323;18505799;19874558;20070609;20604901;21048941;21078624;21139048;21427358;21832049;21890473;21900206;21973056;21988832;22673115;22859339;22863883;22939629;23000965;23152498;24250222;24816145;8125298;8619474;8638121;9110174;9819414 6642 H0YK42;H0YK43;H0YK58;H0YKD5;H0YKL5;H0YKT3;J3KPH4;Q13596 AB209013;ABBA01038900;ABBA01038901;ABBA01038902;ABBA01038903;AC021541;AC100840;AF065483;AF065484;AF131792;AK128179;AK222561;AK222793;AK291752;AK310618;AL050148;AMYH02030595;AMYH02030596;AU279817;BC000357;BQ935515;BT006983;BX108623;CH471082;DB455188;NG_029708;NM_001242933;NM_003099;NM_148955;U53225;XM_005254610;XM_005254611 AAA98672;AAC17182;AAC17183;AAH00357;AAP35629;ABM81677;ABM84844;BAC87312;BAD92250;BAD96281;BAD96513;BAF84441;EAW77663;EAW77664;EAW77665;EAW77666;NP_001229862;NP_003090;NP_683758;Q13596;XP_005254667;XP_005254668 Hs.188634 1754341;2046902;2141205;2169178;2178872;2178874;2179069 Bdaa7f10;D15S1176;REN94580;RH47502;SHGC-132367;SHGC-24058;STS-H15134 HsT17379;MGC8664;SNX1A;Vps5 sorting nexin 1A;sorting nexin-1 APPROVED protein-coding HGNC:11172 03171 601272 REVIEWED 5128987 SNX18P1Y sorting nexin 18 pseudogene 1, Y-linked Y Y 13333964 13334716 + 11178288 11179040 + 100418999 AC134878;NG_024792 pseudo HGNC:38442 INFERRED 1314019 SNX10 sorting nexin 10 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 7 7 7 p15.2 26320523 26402976 + 26331515 26413949 + 26291895 26374383 + 1580863;6480464;8699517;7240710;8554872 11485546;12461558;12477932;12690205;12853948;17012226;19322201;19460752;21844891;21890473;21906983;21963094;22174188;22499339;22589738;23280965;23615901 29887 B4DJM0;C9JQ16;C9JUQ6;G5E9H5;Q8N5Z3;Q9Y5X0 ABBA01056748;AC004540;AC010677;AC074295;AF121860;AK296142;AK307905;AK309162;AK311256;AK312850;AK316088;AMYH02015396;AMYH02015397;AMYH02015398;BC031050;BC034992;BG399132;BJ995940;BM147840;BM147978;BX648363;CH236948;CH471073;NG_033902;NM_001199835;NM_001199837;NM_001199838;NM_013322;NR_037670;XM_006715710;XM_006715711;XM_006715712 AAD27833;AAH31050;AAH34992;AAS02029;AAS07476;ABM83346;ABM86560;BAG35703;BAG58882;BAH14459;EAL24234;EAW93848;EAW93849;EAW93850;EAW93851;NP_001186764;NP_001186766;NP_001186767;NP_037454;Q9Y5X0;XP_006715773;XP_006715774;XP_006715775 Hs.741316 1674176;1760463;2132403;5111260 A003A21;SHGC-143124;SHGC-55990;WI-21086 MGC33054;OPTB8 OTTHUMP00000122521;OTTHUMP00000122522;OTTHUMP00000202476;OTTHUMP00000202479;sorting nexin-10 APPROVED protein-coding ENSG00000086300 HGNC:14974 15409 614780;615085 REVIEWED 5129009 SNX18P2 sorting nexin 18 pseudogene 2 9 9 9 q22.31 66097751 66098588 - 95655950 95656787 - 92893668 92894505 - 642952 ABBA01018598;AL136981;AMYH02021227;NG_005963 pseudo HGNC:39610 INFERRED 5128974 SNX18P20 sorting nexin 18 pseudogene 20 1 14 143402104 143403677 + 59288 60861 + 100419026 AMYH02001843;BX004987;NG_027139 pseudo HGNC:39628 INFERRED 5128972 SNX18P22 sorting nexin 18 pseudogene 22 1 14 143430755 143431495 + 87939 88679 + 100419027 AMYH02001843;BX004987;NG_027140 pseudo HGNC:39630 INFERRED 6484032 SNX18P23 sorting nexin 18 pseudogene 23 4 4 p11 49234932 49235976 - 49232915 49233959 - 100132617 AC118282;AMYH02009178;NG_028187 pseudo HGNC:39631 INFERRED 5128976 SNX18P21 sorting nexin 18 pseudogene 21 1 143288437 143289188 + 100419025 AMYH02001842;BX571672;NG_027138 pseudo HGNC:39629 INFERRED 1320299 SNX13 sorting nexin 13 This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008] 7 7 7 p21.1 17810453 17960145 - 17830385 17980141 - 17790761 17940518 - 1580863;4140388;6480464 17173929 11485546;11729322;12438708;12461558;12477932;14702039;14759258;15489334;16344560;20379614;21906983;21988832;24097068;9872452 23161 F8W8A9;F8WB11;Q86XC4;Q9NSH0;Q9Y5W8 AB018256;ABBA01056646;AC073205;AC080080;AF121862;AF420470;AK001861;AK023740;AK026643;AK294582;AK307453;AK315135;AL353943;AMYH02015313;BC022060;BC041844;BC045667;BC050289;BG718588;BX503974;CH236948;CH471073;DB050735;KF511004;NM_015132;XM_005249672;XM_005249673;XM_005249674 AAD27835;AAH22060;AAH45667;AAL37728;ACT64562;ACT64563;BAA34433;BAG37586;BAG51222;BAG57773;CAB89251;EAW93689;EAW93690;EAW93691;EAW93692;EAW93693;EAW93694;EAW93695;EAW93696;EAW93697;EAW93698;EAW93699;NP_055947;Q9Y5W8;XP_005249729;XP_005249730;XP_005249731 Hs.487648 1660762;1677004;1688020;1693454;1850435;2139354 AFMA046XB5;RH41852;RH65927;RH93786;SHGC-55983;SHGC-59064 KIAA0713;RGS-PX1 OTTHUMP00000202283;OTTHUMP00000202284;rgs domain- and phox domain-containing protein;sorting nexin-13 APPROVED protein-coding ENSG00000071189 HGNC:21335 09418 606589 REVIEWED 5128982 SNX18P24 sorting nexin 18 pseudogene 24 4 4 49562667 49564166 + 49560650 49562149 + 100419004 AC119751;AMYH02009186;NG_025208 pseudo HGNC:39632 INFERRED 5128973 SNX18P26 sorting nexin 18 pseudogene 26 13 13 13 426016 427595 - 19381416 19382995 - 18807276 18808855 - 100419038 ABBA01068537;AC245149;AL391382;NG_024826 pseudo HGNC:39634 INFERRED 5128984 SNX18P25 sorting nexin 18 pseudogene 25 4 4 49590793 49591546 + 49588776 49589529 + 100419005 AC119751;AMYH02009186;NG_025209 pseudo HGNC:39633 INFERRED 6481549 SNX18P27 sorting nexin 18 pseudogene 27 8 8 43368786 43369564 + 43513643 43514421 + 100873788 ABBA01021198;AC134698;AMYH02017919;NG_032330 pseudo HGNC:39635 INFERRED 5128991 SNX18P3 sorting nexin 18 pseudogene 3 9 9 9 38503306 38505087 - 38567398 38569179 - 38567401 38569182 - 100418975 ABBA01050375;AL390726;AL591543;AMYH02019511;NG_023808 pseudo HGNC:39611 INFERRED 5128988 SNX18P5 sorting nexin 18 pseudogene 5 9 9 p11.2 44047023 44048418 - 42922701 42924096 + 100418977 AL591441;CR848007;NG_023822 SNX18P6 pseudo HGNC:39613 INFERRED 5128989 SNX18P4 sorting nexin 18 pseudogene 4 9 9 43062963 43064350 - 66082385 66083772 - 100418976 AL513478;AMYH02020123;NG_023820 pseudo HGNC:39612 INFERRED 5128983 SNX18P7 sorting nexin 18 pseudogene 7 9 9 9 33505996 33507508 + 33575500 33577012 + 33575502 33577014 + 100418980 ABBA01065047;AL139008;AMYH02019423;NG_023890 pseudo HGNC:39615 INFERRED 5128985 SNX18P6 sorting nexin 18 pseudogene 6 9 66394460 66395855 - 100418978 AL591441;NG_023826 pseudo HGNC:39614 INFERRED 5128986 SNX18P8 sorting nexin 18 pseudogene 8 9 9 42437552 42438939 + 40292534 40293921 + 100418981 AMYH02020056;BX664727;NG_023901 pseudo HGNC:39616 INFERRED 5129007 SNX18P9 sorting nexin 18 pseudogene 9 9 9 q21.11 69451450 69452569 + 64439032 64440151 + 644576 CR769776;NG_006123 pseudo HGNC:39617 INFERRED 1352467 SNX19P1 sorting nexin 19 pseudogene 1 21 21 q11.2 14897424 14902332 + 13525103 13530011 + 378810 ABBA01000236;AL078475;AMYH02037513;NG_006946 SNX19P APPROVED pseudo HGNC:16765 INFERRED 3362733 SNX19P2 sorting nexin 19 pseudogene 2 13 13 13 q11 527070 531993 - 19464940 19469880 - 18890800 18895740 - 400094 ABBA01068540;AC245149;AL355516;NG_006945 KIAA0254 pseudo HGNC:38115 INFERRED 5131797 SNX19P4 sorting nexin 19 pseudogene 4 10 10 10 67528111 67528739 + 74242985 74243613 + 72483227 72483855 + 100419047 ABBA01020352;AC091769;AMYH02023319;NG_025518;NG_033179 1665123 RH44916 pseudo HGNC:41510 INFERRED 1604682 SNX19 sorting nexin 19 ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INVOLVED IN protein transport (inferred); FOUND IN cytoplasmic vesicle (inferred); membrane (inferred); INTERACTS WITH atrazine; cobalt dichloride; disodium selenite 11 11 11 q25 127914643 127955264 - 130745766 130786382 - 130875871 130916487 - 6480464 11564866;12461558;12477932;15146197;16273344;16344560;16751776;17975119;18073581;19023099;19322201;19730683;19752551;21906983;23974872;9039502 399979 E7ERC7;E9PJV7;E9PKB9;E9PLV3;Q92543 ABBA01023047;AF395843;AK292457;AK294731;AK295606;AK304809;AK308314;AK308628;AK309202;AK316414;AK316505;AL512699;AMYH02025794;AP000824;AP001093;BC031620;BU431333;BU623384;CB999595;CH471065;CN307729;D87443;DB098024;DC400642;DN990954;DQ576434;NM_001301089;NM_014758;XM_005271545;XM_005271546;XM_005271548;XM_005271549;XR_428976;XR_428977 AAH31620;AAK73124;BAA13384;BAF85146;BAG57878;BAG58492;BAG65559;BAH14785;BAH14876;CAC21700;EAW67794;NP_001288018;NP_055573;Q92543;XP_005271602;XP_005271603;XP_005271605;XP_005271606 Hs.444024 1666690;1722499;2128495;2140017 A008P25;G60173;RH46872;RH69520 CHET8;DKFZp667I205;KIAA0254 OTTHUMP00000230657;OTTHUMP00000230660;OTTHUMP00000230661;sorting nexin-19 protein-coding ENSG00000120451 HGNC:21532 18621 VALIDATED 1604540 SNX20 sorting nexin 20 SNX20 interacts with the cytoplasmic domain of PSGL1 (SELPLG; MIM 600738) and cycles PSGL1 into endosomes.[supplied by OMIM, Feb 2010] 16 16 16 q12.1 35215527 35230577 - 50700211 50715264 - 50666300 50681353 - 6480464 12477932;14702039;16189514;16782399;18196517;20018961;20379614;22412388;7835887;8586417 124460 Q7Z614 AA278249;ABBA01000868;AC007608;AK055837;AK292650;AK292705;AMYH02032016;AY302441;BC027944;BC063423;BC119626;CH471092;D20065;NM_001144972;NM_153337;NM_182854 AAH63423;AAI19627;AAI68369;AAP58362;BAF85339;BAF85394;EAW82763;NP_001138444;NP_699168;NP_878274;Q7Z614 Hs.460777;Hs.715778 1335524;1666124;1684680;1697436;1789440;1789442;2134843;2144593;2148218;5126663 D16S3136;G67944;G67945;RH102218;RH68075;RH77862;RH98498;SGC34205;SHGC-17274;SHGC-31023 MGC35578;SLIC-1;SLIC1 OTTHUMP00000164226;OTTHUMP00000164227;selectin ligand interactor cytoplasmic 1;selectin ligand interactor cytoplasmic-1;selectin ligand-interactor cytoplasmic 1;sorting nexin-20 APPROVED protein-coding ENSG00000167208 HGNC:30390 15401 613281 VALIDATED 1322486 SNX21 sorting nexin family member 21 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41172965 41182409 + 44462256 44471914 + 45827854 45843275 + 6480464 11485546;11736640;11780052;12459172;12461558;12477932;14702039;16344560;21832049;21988832 90203 Q05DJ0;Q5JZH3;Q5JZH4;Q8WY78;Q969T3 ABBA01052667;AF258570;AF395845;AF523834;AK091359;AK095851;AK226120;AK293443;AK297622;AL008726;AL591562;AMYH02037154;BC012904;BC019823;BM925584;CH471077;DA053179;KF456922;NM_001042632;NM_001042633;NM_033421;NM_152897;XM_005260608;XM_006723885 AAG23773;AAH12904;AAH19823;AAK73126;AAM77915;ADZ15975;BAC03646;BAC04637;BAG56946;BAG59998;CAC39140;EAW75799;EAW75800;EAW75801;NP_001036097;NP_001036098;NP_219489;NP_690857;Q969T3;XP_005260665;XP_006723948 Hs.472854 2118627;2152180;2166601 D20S569E;RH12567;RH18291 C20orf161;MGC29895;PP3993;SNX-L;dJ337O18.4 OTTHUMP00000031179;OTTHUMP00000031180;OTTHUMP00000031181;OTTHUMP00000031182;OTTHUMP00000031183;chromosome 20 open reading frame 161;sorting nexin 21;sorting nexin L;sorting nexin-21 APPROVED protein-coding HGNC:16154 16641 REVIEWED 1315725 SNX24 sorting nexin 24 ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INVOLVED IN protein transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasmic vesicle (inferred); membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; arsenite(3-) 5 5 5 q23.2 118135984 118299375 + 122181149 122347317 + 122845454 123011597 + 1580863;6480464;8554872 12461558;12477932;12975309;14702039;15489334;16169070;17207965;20360068;20467438;21900206;22863883;23000965;23455922;23793025 28966 A8MXB7;H0Y8V0;H0YA25;Q9Y343 ABBA01068947;ABBA01068948;ABBA01068949;AC008669;AC022116;AF139461;AK021473;AMYH02012096;AMYH02012097;AY044655;AY358098;BC010886;BC069012;BE673672;BQ278046;CH471086;DB498436;NM_014035;XM_005271972;XM_006714592;XM_006714593 AAD32668;AAH10886;AAH69012;AAK98769;AAQ88465;ADQ32520;EAW48880;EAW48881;EAW48882;NP_054754;Q9Y343;XP_005272029;XP_006714655;XP_006714656 Hs.483200 1716375;1847641;2109875;2129888;2172295 AFMB027ZG9;D5S1756;RH121367;RH65699;SNX24_9565 PRO1284;SBBI31 OTTHUMP00000159159;OTTHUMP00000159160;OTTHUMP00000223057;OTTHUMP00000223058;sorting nexin-24;sorting nexing 24 protein-coding ENSG00000064652 HGNC:21533 15413 VALIDATED 5131798 SNX25P1 sorting nexin 25 pseudogene 1 1 1 1 184816955 184817867 + 211590367 211591279 + 211417025 211417937 + 100419028 ABBA01048192;AL590101;AMYH02002624;NG_027204 pseudo HGNC:41509 INFERRED 1321108 SNX2 sorting nexin 2 This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013] 5 5 5 q23 118065560 118120625 + 122110691 122170234 + 122774996 122834539 + 1580863;6480464 11102511;11278302;11279102;11438682;11485546;12477932;14596906;14702039;14978220;15302935;15489334;15546961;15673616;15690390;16179610;16344560;16964243;17101778;17319803;17891154;18029348;18472259;20604901;21139048;21391972;21890473;21906983;21963094;21987572;21988832;22863883;22939629;23000965;23360489;24797263;24816145;8125298;9819414 6643 B3KN57;D6RBT1;D6RC15;O60749 ABBA01068949;ABBA01068950;AC008669;AC093267;AF043453;AF065482;AK002170;AK023581;AK023716;AK026718;AK222968;AK293671;AK296596;AMYH02012096;AY272044;BC003382;BT009841;CH471086;DA738311;DC313082;DC338761;HG498411;NM_001278199;NM_003100 AAB99852;AAC17181;AAH03382;AAP88843;AAQ02693;ABM81859;ABM85022;BAD96688;BAG51023;BAG51206;BAG51219;BAG57115;BAH12394;EAW48883;EAW48884;NP_001265128;NP_003091;O60749 Hs.125352;Hs.713554 1340461;2169656;2169658;2184387 D5S1975;RH46107;RH69353;SHGC-53714 MGC5204;TRG-9 CTB-36H16.2;OTTHUMP00000223062;OTTHUMP00000223063;sorting nexin-2;transformation-related gene 9 protein APPROVED protein-coding HGNC:11173 09332 605929 REVIEWED 3029010 SNX19P3 sorting nexin 19 pseudogene 3 18 18 p11.21 14628382 14633301 - 14628383 14633302 - 646442 AMYH02034359;AP005058;NG_006944 pseudo HGNC:38116 INFERRED 1343949 SNX29P1 sorting nexin 29 pseudogene 1 16 16 p12.2 21360684 21397254 + 21349363 21385933 + 6480464 12477932;15489334;15616553;17207965;19690332 100652781 ABBA01157002;AC008740;AC241640;BC041583;DR003051;NR_045011 AAH41583;ADQ32105;Q8IUI4 Hs.443656;Hs.658149 5020635;5109281 D1S1425;D7S3207 MGC52410;RUNDC2B;RUNDC2L RUN domain containing 2B;RUN domain-containing protein 2B;RUNDC2-like protein APPROVED pseudo HGNC:31913 VALIDATED 1312835 SNX22 sorting nexin 22 The protein encoded by this gene is a sorting nexin that is found in the cytoplasm, where it interacts with membrane-bound phosphatidylinositol 3-phosphate. The encoded protein may play a role in intracellular trafficking. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012] 15 15 15 q22.31 41322905 41328625 + 64443899 64449680 + 64151700 64157481 + 1580863;6480464;8554872 12461558;12477932;14702039;16189514;17400918;20467438;20811636;21988832;23455922 79856 Q6ZTF9;Q96L94 ABBA01038899;ABBA01038900;AC100840;AK024014;AK126655;AL832838;AMYH02030596;AY044653;BC014660;BC019655;BC030225;BC036532;CH471082;CS185585;NG_033071;NM_024798;NR_073534;XM_005254677 AAH19655;AAH30225;AAK98767;BAB14776;BAC86630;CAJ42766;EAW77667;EAW77668;NP_079074;Q96L94;XP_005254734 Hs.744250 1682585;1699468;1778629;2127819;2171935;2191477;5015619;5015961;5016596;5020944;5024661;5024756;5037552 AF044685;D11S3114;D15S1174;D15S1477;D8S2279;GDB:631802;MARC_23668-23669:1029507689:1;RH103326;RH45047;RH80030;RH91503;RH98542;WI-9117 FLJ13952 OTTHUMP00000163918;sorting nexin-22 protein-coding ENSG00000157734 HGNC:16315 15412 REVIEWED 5131799 SNX2P1 sorting nexin 2 pseudogene 1 1 1 1 193600201 193600835 + 220380990 220381624 + 220207648 220208282 + 100418968 ABBA01048081;AL445435;AMYH02002730;NG_027207 pseudo HGNC:41514 INFERRED 1352523 SNX29P2 sorting nexin 29 pseudogene 2 INTERACTS WITH silicon dioxide; bis(2-ethylhexyl) phthalate (ortholog); ethanol (ortholog) 16 16 16 p11.2 27293188 27314402 - 29313608 29376380 + 29302287 29365059 + 6480464 12477932;14702039 440352 Q8IUI4 ABBA01045666;ABBA01045667;AC025279;AC245044;AK023827;AMYH02031825;BC024293;BX648280;HG507907;NR_002939 BAB14692 Hs.658149 5014003;5014023;5015619;5015867;5015959;5016478;5020740;5022578;5024272;5037552;5109281 D10S2448;D11S3114;D13S1553;D17S1136;D1S1423;D1S1425;D2S1254;D8S2279;GDB:312714;GDB:434012;L17809 MGC52410;RP11-231C14.7;RUNDC2C APPROVED pseudo HGNC:31914 VALIDATED 1604256 SNX29 sorting nexin 29 ENCODES a protein that exhibits microtubule motor activity (inferred); phosphatidylinositol binding (inferred); INVOLVED IN metabolic process (inferred); microtubule-based movement (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 16 16 16 p13.13-p13.12 12320697 12843213 + 12070602 12668146 + 11976745 12574289 + 6480464;8554872 10493829;12477932;14702039;15616553;16782399;19773279;22589738;22797925;23251661;23358160;24159190;24204828;8889548 92017 H3BPI1;H3BQF0;H3BT98;Q8TEQ0 ABBA01006840;ABBA01006841;ABBA01006842;ABBA01006843;ABBA01006844;ABBA01006845;ABBA01006846;ABBA01006847;ABBA01006848;ABBA01006849;ABBA01006850;ABBA01006851;AC007216;AC007598;AC007601;AC010333;AC092365;AC131391;AI369689;AK022425;AK024473;AK074072;AK097928;AL135642;AL137333;AMYH02031491;AMYH02031492;AMYH02031493;AMYH02031494;AMYH02031495;AMYH02031496;AMYH02031497;AMYH02031498;AMYH02031499;AMYH02031500;AMYH02031501;AMYH02031502;AMYH02031503;AMYH02031504;AMYH02031505;AMYH02031506;AMYH02031507;AMYH02031508;AMYH02031509;AMYH02031510;BC013346;BC029857;BM692924;BQ185857;BX648908;HY078299;KF456161;NM_032167;U95737;XM_005255682;XM_005255683;XM_006720977;XM_006720978 AAC31664;AAH29857;AAI56064;AAI72456;BAB14033;BAB15763;BAB84898;NP_115543;Q8TEQ0;XP_005255739;XP_005255740;XP_006721040;XP_006721041 Hs.458401 1336017;1337557;1338584;1342375;1647338;1647340;1652737;1658823;1676932;1682624;1682998;1696120;1696124;1705782;1714551;1734566;1738575;1763083;1764619;1764967;1766621;1769877;1772340;1774304;1852629;2117323;2117639;2147065;2153614;2159955;2172957;2173179;2183305;2187664;5015961;5022200 A005X12;AFMa134vc9;D15S1477;D16S2570E;D16S2662;D16S2737;D16S2970;D16S3047;D16S3069;D16S3075;D16S3102;D18S930E;G17889;G20567;L18426;RH119789;RH25185;RH66309;RH69796;RH92684;SHGC-146819;SHGC-148210;SHGC-148522;SHGC-149921;SHGC-17252;SHGC-31085;SHGC-60498;SHGC-60616;SHGC-60707;SHGC-60854;SHGC-6109;SHGC-61125;SHGC-78954;SHGC-78964;SHGC-78971;WI-13943 A-388D4.1;FLJ00143;FLJ12363;FLJ40609;RUNDC2A OTTHUMP00000160262;RUN domain containing 2A;RUN domain-containing protein 2A;similar to riken cdna 4933437k13;sorting nexin-29 protein-coding ENSG00000048471 HGNC:30542 17437 VALIDATED 6481550 SNX2P2 sorting nexin 2 pseudogene 2 7 7 31980874 31981193 + 31941261 31941580 + 100873785 ABBA01056828;AC007033;AMYH02015472;NG_032371 pseudo HGNC:41515 INFERRED 1320883 SNX25 sorting nexin 25 ENCODES a protein that exhibits phosphatidylinositol binding (inferred); type I transforming growth factor beta receptor binding (inferred); INVOLVED IN negative regulation of pathway-restricted SMAD protein phosphorylation; negative regulation of transforming growth factor beta receptor signaling pathway; receptor catabolic process; FOUND IN endosome (inferred); membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 4 4 4 q35.1 183458214 183611271 + 186130773 186285120 + 185209619 185363969 + 6480464 12461558;12477932;14702039;17081983;21266196;21890473;22939629;23518199 83891 B3KTI8;H0Y9R5;Q9H3E2 ABBA01070528;ABBA01070529;ABBA01070530;ABBA01070531;AC073344;AF113223;AK026814;AK095661;AMYH02010659;AMYH02010660;AMYH02010661;AW968034;AY044656;AY601647;BC029868;BM554003;BX508898;CH471056;NM_031953;XM_005263267;XM_005263268;XM_006714331;XM_006714332;XM_006714333;XM_006714334;XR_427550;XR_427551 AAG39294;AAH29868;AAK98770;AAT98627;BAB15562;BAG53100;EAX04651;EAX04652;NP_114159;Q9H3E2;XP_005263324;XP_005263325;XP_006714394;XP_006714395;XP_006714396;XP_006714397 Hs.369091 1336854;1338203;1657674;1660106;1665155;1675557;1696748;1771878;2173580;7185729 A008Y25;AFM240XD10;D4S1540;D4S171;SHGC-35923;SHGC-50367;SHGC-67316;SHGC-77933;STS-H99959 FLJ23161;MSTP043;SBBI31 OTTHUMP00000218288;OTTHUMP00000218290;sorting nexin-25 protein-coding ENSG00000109762 HGNC:21883 15414 VALIDATED 1601789 SNX30 sorting nexin family member 30 FOUND IN cytoplasm (inferred); INTERACTS WITH benzo[a]pyrene; calcitriol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q32 86330021 86454125 - 115511911 115637267 + 112749638 112874987 + 6480464 12477932;14702039;16374509;20583170;21906983;22745667 401548 H0Y496;Q5VWJ9 AA401207;ABBA01042692;ABBA01042693;ABBA01042694;ABBA01042695;ABBA01042696;AK091599;AK092908;AK126644;AK127013;AK128080;AK128710;AK129991;AL139041;AL360235;AL390067;AMYH02021490;AMYH02021491;AMYH02021492;AMYH02021493;AMYH02021494;AMYH02021495;BC014914;BG699098;BX367137;CH878453;NM_001012994;XM_005251986 EAW50549;NP_001013012;Q5VWJ9;XP_005252043 Hs.522350 1653599;1682782;1701570;1786954;1849146;1849560;2171629;5015961;5022578 D15S1477;D1S1423;D9S1097;D9S1101;D9S1103;G33170;RH104418;RH99025;SHGC-143479 ATG24A;FLJ26481;FLJ34280;FLJ35589;FLJ44686;FLJ45069;FLJ46877 OTTHUMP00000021943;sorting nexin-30 protein-coding ENSG00000148158 HGNC:23685 VALIDATED 1603261 SNX31 sorting nexin 31 ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INVOLVED IN protein transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoskeleton (inferred); protein complex (inferred); INTERACTS WITH silicon dioxide; valproic acid (ortholog) 8 8 8 q22.3 97770483 97847271 - 101585110 101661893 - 100572882 100649665 - 6480464;8554872 12477932;12516573;14702039;16782399;20379614 169166 E5RFI8;E5RJE9;E5RJK2;H0YBA9;Q8N9S9 ABBA01037578;ABBA01037579;ABBA01037580;ABBA01037581;AK093906;AMYH02018505;AP000424;AP001205;BC031260;BQ012274;CD106024;CH471060;NM_152628;XM_005250811;XM_005250812;XM_005250813;XM_005250814;XM_005250815;XM_006716514;XM_006716515;XM_006716516;XR_242380 AAH31260;BAC04249;EAW91812;EAW91813;NP_689841;Q8N9S9;XP_005250868;XP_005250869;XP_005250870;XP_005250871;XP_005250872;XP_006716577;XP_006716578;XP_006716579 Hs.567758 1704524;1721375;2121384;2136703;2162901 D8S1517;G31444;G59689;RH45797;SHGC-83048 MGC39715 OTTHUMP00000227308;OTTHUMP00000227309;sorting nexin-31 protein-coding ENSG00000174226 HGNC:28605 17545 VALIDATED 7245353 SNX33P1 sorting nexin 33 pseudogene 1 19 19 16145639 16146905 - 16034829 16036095 - 100533624 ABBA01051127;AC004790;AMYH02035666;NG_028694 pseudo HGNC:48590 INFERRED 1605258 SNX32 sorting nexin 32 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 11 11 11 q13.1 62925320 62945078 + 65601305 65621578 + 65833834 65854107 + 6480464;8554872 12477932;14702039;15203218;16782399;17207965;21890473;23128233;23535729;24250222 254122 B4DS03;Q86XE0 ABBA01024098;AK055496;AK289587;AK293827;AK296055;AK299512;AK309435;AK309789;AL833261;AMYH02024964;AMYH02024965;AMYH02024966;AP001266;BC040981;BC045563;CD638068;CH471076;NM_152760;XM_005273871;XM_006718488 AAH40981;AAH45563;ADQ33031;BAB70935;BAF82276;BAG57231;BAG58818;BAG61465;EAW74441;EAW74442;EAW74443;EAW74444;EAW74445;EAW74446;EAW74447;NP_689973;Q86XE0;XP_005273928;XP_006718551 Hs.591950 2146547 RH48139 DKFZp761P1320;FLJ30934;MGC42112;MGC57276;SNX6B OTTHUMP00000158605;sorting nexin 6B;sorting nexin-32;sorting nexin-6B protein-coding ENSG00000172803 HGNC:26423 08090 VALIDATED 6481443 SNX3P1X sorting nexin 3 pseudogene 1, X-linked X X 91770325 91770496 - 92515326 92515497 - 100873884 AL121869;AMYH02039965;NG_032372 pseudo HGNC:41516 INFERRED 6481448 SNX3P1Y sorting nexin 3 pseudogene 1, Y-linked Y Y 5502525 5502696 - 5634484 5634655 - 100873885 ABBA01069924;AC010081;NG_032373 pseudo HGNC:41517 INFERRED 1603528 SNX33 sorting nexin 33 ENCODES a protein that exhibits identical protein binding; INVOLVED IN cleavage furrow formation; endocytosis; endosomal transport; FOUND IN cytoplasmic membrane-bounded vesicle; cytosol; extrinsic component of membrane; INTERACTS WITH calcitriol; copper(2+) sulfate; pirinixic acid 15 15 15 q24.2 52866675 52876295 + 75941348 75950968 + 75649007 75658627 + 6480464 12477932;14702039;15302935;16374509;16782399;18353773;18419754;19487689;19718658;19807924;20964629;22718350 257364 H3BPR3;Q8WV41 ABBA01060538;AC105020;AK091291;AL833039;AMYH02030820;BC018775;CH471136;CS416523;EF219141;EF653821;NM_153271 AAH18775;ABM82621;ABM86137;ABN09670;ABV26009;ACE86418;ACE87094;CAH56299;CAL48182;EAW99243;NP_695003;Q8WV41 Hs.8705 1666113;2174922 RH77791;SGC34391 MGC32065;SH3PX3;SH3PXD3C;SNX30 OTTHUMP00000183519;SH3 and PX domain containing 3;SH3 and PX domain-containing protein 3;sorting nexin-33 protein-coding HGNC:28468 11331 PROVISIONAL 1345268 SNX3 sorting nexin 3 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] 6 6 6 q21 109279209 109328955 - 108532712 108582478 - 108211508 108261274 - 1580863;6480464 11279102;11433298;12471201;12477932;12665801;14574404;15489334;15673616;16169070;16964243;17081983;17474147;17622474;17655765;18632802;18767904;18978678;19056867;19322201;19471022;19738201;20482551;20634891;21139048;21890473;21906983;21963094;22159558;22505724;22623428;22673115;22939629;22990118;23000965;23237080;23383273;9819414 8724 O60493 AB047360;ABBA01026153;ABBA01026154;AF034546;AF062483;AI921483;AK289476;AL078596;AMYH02014265;AMYH02014266;AMYH02014267;AV704272;BC008444;BC014580;BC015179;BC016863;BG497532;BQ432490;BT007114;CA442762;CH471051;CN422502;CR456898;DB502691;HY023148;HY156437;NG_023278;NM_001300928;NM_001300929;NM_003795;NM_152827;XM_005267192;Z98742 AAC16018;AAC16040;AAH08444;AAH14580;AAH15179;AAH16863;AAP35778;ACE86730;ACE87416;BAB32649;BAF82165;CAG33179;EAW48378;EAW48379;EAW48380;EAW48381;EAW48382;EAW48383;EAW48384;NP_001287857;NP_001287858;NP_003786;NP_690040;O60493;XP_005267249 Hs.12102 1686168;1739327;1798396;1801052;1803436;1803438;1804006;1805152;1805308;1809880;1813280;1815050;1816730;1818052;1821698;1823984;1827100;1829924;1830514;1832102;1833108;1833412;1833898;1835720;1835878;1836852;1837226;1837434;1838452;1839492;1839756;1840356;1841304;1841590;1842170;1842302;1843440;1843778;1843872;1844422;1845044;1845396;1846524;1958070;1958072;1958074;1958076;1958078;1958080;1958082;1958084;1958086;1958088;1958090;1958092;1958094;1958096;1958098;1958100;1958102;1958104;1958106;1958108;1958110;1958112;1958114;1958116;1958118;1958120;1958122;1958124;1958126;1958128;1958130;1958132;1958134;1958136;1958138;1958140;1958142;1958144;1958146;1958148;1958150;1958152;1958154;1958156;1958158;1958160;1958162;1958164;1958166;1958168;1958170;1958172;1958174;1958176;1958178;1958180;1958182;1958184;1958186;1958188;1958190;1958192;1958194;1958196;1958198;1958200;1958202;1958204;1958206;1958208;1958210;1958212;1958214;1958216;1958218;1958220;1958222;1958224;1958226;1958228;1958230;1958232;1958234;1958236;1958238;1958240;1958242;1958244;1958246;1958248;1958250;1958252;1958254;1958256;1958258;1958260;1958262;1958264;1958266;1958268;1958270;1958272;1958274;1958276;1958278;1958280;1958282;1958284;1958286;1958288;1958290;1958292;1958294;1958296;1958298;1958300;1958302;1958304;1958306;1958308;1958310;1958312;1958314;1958316;1958318;1958320;1958322;1958324;1958326;1958328;1958330;1958332;1958334;1958336;1958338;1958340;1958342;1958344;1958346;1958348;1958350;1958352;1958354;1958356;1958358;1958360;1958362;1958364;1958366;1958368;1958370;1958372;1958374;1958376;1958378;1958380;1958382;1958384;1958386;1958388;1958390;1958392;1958394;1958396;1958398;1958400;1958402;1958404;1958406;1958408;1958410;1958412;1958414;1958416;1958418;1958420;1958422;1958424;1958426;1958428;1958430;1958432;1958434;1958436;1958438;1958440;1958442;1958444;1958446;1958448;1958450;1958452;1958454;1958456;1958458;1958460;1958462;1958464;1958466;1958468;1958470;1958472;1958474;1958476;1958478;1958480;1958482;1958484;1958486;1958488;1958490;1958492;1958494;1958496;2126799;2148934;2212952;2212954;2212956;2212958;2212960;2212962;2212964;2212966;2212968;2212970;2212972;2212974;2212976;2212978;2212980;2212982;2212984;2212986;2212988;2212990;2212992;2212994;2212996;2212998;2213000;2213002;2213004;2213006;2213008;2213010;2213012;2213014;2213016;2213018;2213020;2213022;2213024 A004X47;D4S2772E;D6S1250;ECD00034;ECD01394;ECD02615;ECD02616;ECD02918;ECD03519;ECD03601;ECD05932;ECD07660;ECD08557;ECD09409;ECD10082;ECD11935;ECD13088;ECD14665;ECD16095;ECD16392;ECD17189;ECD17696;ECD17849;ECD18095;ECD19017;ECD19100;ECD19590;ECD19780;ECD19884;ECD20400;ECD20928;ECD21061;ECD21363;ECD21848;ECD21992;ECD22288;ECD22354;ECD22929;ECD23100;ECD23147;ECD23425;ECD23739;ECD23915;ECD24483;REN49902;REN49903;REN49904;REN49905;REN49906;REN49907;REN49908;REN49909;REN49910;REN49911;REN49912;REN49913;REN49914;REN49915;REN49916;REN49917;REN49918;REN49919;REN49920;REN49921;REN49922;REN49923;REN49924;REN49925;REN49926;REN49927;REN49928;REN49929;REN49930;REN49931;REN49932;REN49933;REN49934;REN49935;REN49936;REN49937;REN49938;REN49939;REN49940;REN49941;REN49942;REN49943;REN49944;REN49945;REN49946;REN49947;REN49948;REN49949;REN49950;REN49951;REN49952;REN49953;REN49954;REN49955;REN49956;REN49957;REN49958;REN49959;REN49960;REN49961;REN49962;REN49963;REN49964;REN49965;REN49966;REN49967;REN49968;REN49969;REN49970;REN49971;REN49972;REN49973;REN49974;REN49975;REN49976;REN49977;REN49978;REN49979;REN49980;REN49981;REN49982;REN49983;REN49984;REN49985;REN49986;REN49987;REN49988;REN49989;REN49990;REN49991;REN49992;REN49993;REN49994;REN49995;REN49996;REN49997;REN49998;REN49999;REN50000;REN50001;REN50002;REN50003;REN50004;REN50005;REN50006;REN50007;REN50008;REN50009;REN50010;REN50011;REN50012;REN50013;REN50014;REN50015;REN50016;REN50017;REN50018;REN50019;REN50020;REN50021;REN50022;REN50023;REN50024;REN50025;REN50026;REN50027;REN50028;REN50029;REN50030;REN50031;REN50032;REN50033;REN50034;REN50035;REN50036;REN50037;REN50038;REN50039;REN50040;REN50041;REN50042;REN50043;REN50044;REN50045;REN50046;REN50047;REN50048;REN50049;REN50050;REN50051;REN50052;REN50053;REN50054;REN50055;REN50056;REN50057;REN50058;REN50059;REN50060;REN50061;REN50062;REN50063;REN50064;REN50065;REN50066;REN50067;REN50068;REN50069;REN50070;REN50071;REN50072;REN50073;REN50074;REN50075;REN50076;REN50077;REN50078;REN50079;REN50080;REN50081;REN50082;REN50083;REN50084;REN50085;REN50086;REN50087;REN50088;REN50089;REN50090;REN50091;REN50092;REN50093;REN50094;REN50095;REN50096;REN50097;REN50098;REN50099;REN50100;REN50101;REN50102;REN50103;REN50104;REN50105;REN50106;REN50107;REN50108;REN50109;REN50110;REN50111;REN50112;REN50113;REN50114;REN50115;RH91822;stSG634201;stSG634202;stSG634203;stSG634204;stSG634205;stSG634206;stSG634207;stSG634208;stSG634209;stSG634210;stSG634211;stSG634212;stSG634213;stSG634214;stSG634215;stSG634216;stSG634217;stSG634218;stSG634219;stSG634221;stSG634223;stSG634224;stSG634225;stSG634226;stSG634227;stSG634228;stSG634229;stSG634230;stSG634231;stSG634232;stSG634233;stSG634234;stSG634235;stSG634236;stSG634237;stSG634238;stSG634240 Grd19;MCOPS8;MGC17570;SDP3 OTTHUMP00000016941;OTTHUMP00000046475;OTTHUMP00000046476;sorting nexin 3A;sorting nexin-3 APPROVED protein-coding ENSG00000112335 HGNC:11174 09333 605930 REVIEWED 1312208 SNX6 sorting nexin 6 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008] 14 14 14 q13.1 14894794 14963537 - 35030615 35099366 - 34561409 34630160 - 1580863;6480464;8554872 11278302;11279102;11485546;11591366;12477932;14702039;15840729;16713569;16730713;17043677;17148574;18029348;18523162;19322201;19935774;20354142;20830743;21139048;21890473;21906983;21988832;22053931;22505724;22863883;22939629;22990118;23000965;23936387;24816145 58533 B4DJS7;G3V2U1;G3V4Z5;G3V589;G3V5U2;G3V5X9;H0YJF8;Q9UNH7 ABBA01061465;ABBA01061466;ABBA01061467;ABBA01061468;ABBA01061469;ABBA01061470;ABBA01061471;ABBA01061472;AF109364;AF121856;AK021456;AK124315;AK292250;AK296213;AK308464;AL445363;AL445883;AMYH02028992;AMYH02028993;BC001798;BG722853;BI870378;CH471078;NM_021249;NM_152233;U83194;XM_006720224 AAD24202;AAD27829;AAH01798;AAQ13512;ADZ15697;BAF84939;BAG51034;BAG58939;EAW65913;EAW65914;EAW65915;EAW65916;EAW65917;EAW65918;NP_067072;NP_689419;Q9UNH7;XP_006720287 Hs.356647 1662546;1687874;1773613;1857408;2117906;2123267;2156969;2157960;2166638;2191663;7187532 D14S1170;D14S665E;D14S827;G35755;G35892;G35904;G36182;MARC_4171-4172:996679463:3;RH44760;RH81064 MGC3157;MSTP010;TFAF2 OTTHUMP00000178808;OTTHUMP00000178809;TRAF4-associated factor 2;sorting nexin-6;tumor necrosis factor receptor-associated factor 4(TRAF4)-associated factor 2 APPROVED protein-coding ENSG00000129515 HGNC:14970 12086 606098 REVIEWED 5131748 SNX5P1 sorting nexin 5 pseudogene 1 4 4 4 q21.1 74565840 74567026 + 77265701 77266887 + 76344548 76345734 + 9847074 100131940 ABBA01063359;AC034139;AMYH02009513;NG_009130 pseudo HGNC:41512 INFERRED 1320273 SNX4 sorting nexin 4 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012] 3 3 3 q21.2 123575104 123648748 - 125165488 125239058 - 125446644 125520214 - 1580863;6480464 11278302;11279102;12477932;12668730;14702039;15489334;16169070;16344560;17110338;17319803;17994011;19529763;20379614;21139048;21145461;21890473;21906983;21963094;21973056;21988832;22505724;22939629;24250222;9819414 8723 F8W9T3;F8WDD4;O95219 ABBA01016419;ABBA01016420;ABBA01016421;AC080096;AC117487;AF065485;AF130078;AI187416;AK001835;AK298972;AMYH02007575;AMYH02007576;AMYH02007577;AMYH02007578;AMYH02007579;BC018762;BI669801;CH471052;DA289870;NM_003794;NR_073435 AAC83149;AAG35504;AAH18762;ABM83057;ABM86251;BAG50982;BAG61066;EAW79390;EAW79391;EAW79392;EAW79393;NP_003785;O95219 Hs.507243 1652158;1699554;2169750;5022765 D3S4226;RH103376;SHGC-77294;SNX4 ATG24B OTTHUMP00000215866;sorting nexin-4 APPROVED protein-coding ENSG00000114520 HGNC:11175 09334 605931 REVIEWED 1320945 SNX5 sorting nexin 5 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] 20 20 20 p11 17996791 18024035 - 17922244 17949490 - 17941596 17968991 - 1580863;6480464 10600472;11485546;11780052;12477932;14702039;15133132;15489334;15561769;16169070;16344560;16857196;17148574;18596235;18854019;19204726;21139048;21890473;21900206;21906983;21988832;22486813;22505724;22863883;22939629;23000965;23195037;23602387;24097068;24255178;24816145;8125298 27131 Q5QPE4;Q5QPE5;Q6P5V6;Q9Y5X3;U3KQL0;U3KQP5 ABBA01054034;AF121855;AK001793;AK026227;AK054634;AK123903;AK129505;AK223308;AK296947;AK308017;AL121585;AL832967;AMYH02036773;AW470866;BC000100;BC002724;BC062638;BC093623;BC093980;BC143274;BT007191;CH471133;DA567854;DB118420;KF511290;NM_001282454;NM_014426;NM_152227 AAD27828;AAH62638;AAH93623;AAH93980;AAI43275;AAP35855;BAA91914;BAD97028;BAG53980;BAH12462;EAX10263;EAX10264;EAX10265;EAX10266;EAX10267;EAX10268;NP_001269383;NP_055241;NP_689413;Q9Y5X3 Hs.316890 1675965;1678339;1694242;1790189;2119738;2119740;2159218;2159961;5014051;5015619;5021872;5022200;5022651;5037552;5124567 A005K08;AA851347;AL035224;D11S2921;D11S3114;D20S550E;D8S2278;D8S2279;G20280;L18426;RH36045;RH38955;RH94213;SHGC-64282;sY3084 FLJ10931 OTTHUMP00000030340;OTTHUMP00000062927;OTTHUMP00000062929;sorting nexin-5 APPROVED protein-coding ENSG00000089006 HGNC:14969 10439 605937 REVIEWED 1313530 SNX7 sorting nexin 7 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region like some family members, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010] 1 1 1 p21.3 97381135 97479949 + 99127236 99226056 + 98661662 98760500 + 1580863;6480464 11485546;12461558;12477932;15489334;16130112;16189514;17474147;20203127;21873549;21900206;21988832;23259602;24250222;8125298 51375 B4DP69;B7ZC83;E9PLE1;E9PNL2;Q9UNH6 ABBA01045462;ABBA01045463;AF121857;AK025031;AK223229;AK293018;AK298211;AL049989;AL548028;AL627442;AMYH02001541;AMYH02001542;BC010349;BC018105;BI856196;BT006747;CH471097;NM_015976;NM_152238;NR_033716;XM_006710677;XM_006710678;XM_006710679 AAD27830;AAH10349;AAH18105;AAP35393;ADZ16069;BAD96949;BAF85707;BAG60481;CAB43229;EAW72995;EAW72996;EAW72997;EAW72998;NP_057060;NP_689424;Q9UNH6;XP_006710740;XP_006710741;XP_006710742 Hs.197015 1692790;1693180;1698496;1725539;1775447;2158112;2219702 AL034039;AL034316;RH102798;RH119168;SHGC-75195;SHGC-75196;SNX7__5472 DKFZp564F052;MGC8717 OTTHUMP00000012432;OTTHUMP00000236198;sorting nexin-7 APPROVED protein-coding ENSG00000162627 HGNC:14971 15416 614904 REVIEWED 5131839 SNX6P1 sorting nexin 6 pseudogene 1 19 19 19 p12 23140238 23142197 - 23308643 23310602 - 23125841 23127800 - 126506 ABBA01051426;AC124856;AMYH02035834;NG_002348 pseudo HGNC:41511 INFERRED 5131807 SNX5P2 sorting nexin 5 pseudogene 2 12 12 12 q23.1 101125731 101129128 + 101460385 101463780 + 101066607 101070000 + 728467 ABBA01053247;AC063947;AMYH02027065;NG_009120 2159218 SHGC-64282 pseudo HGNC:41513 INFERRED 1349647 SNX27 sorting nexin family member 27 This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 124699311 124786191 + 151584454 151671559 + 151611988 151699083 + 1580863;6480464;8554872 11485546;12461558;12477932;14702039;15121882;15466885;16710414;17351151;17577583;17644068;17828261;18029348;18690037;19322201;19555689;19615732;20379614;20733053;21139048;21300787;21303929;21602791;21890473;21906983;21926430;21988832;22411990;23000965;23536889;23563491;24816145;8889548;9455484 81609 H7C603;Q96L92 AB007957;ABBA01049402;ABBA01049403;AF060509;AJ009640;AK001395;AL391335;AL589765;AMYH02001888;AY044866;BC012184;BC051817;BC071825;BC100998;BC100999;BC101000;BC101822;BC101824;BC107862;BG472531;BM560557;BU676479;CB853160;CH471121;NM_030918;XM_005245509;XM_005245510;XM_005245511;XM_005245512 AAG43127;AAH12184;AAH51817;AAH71825;AAI00999;AAI01000;AAI01001;AAI01823;AAI01825;AAI07863;AAK97797;ADZ15676;BAE16986;EAW53423;EAW53424;EAW53425;EAW53426;EAW53427;EAW53428;NP_112180;Q96L92;XP_005245566;XP_005245567;XP_005245568;XP_005245569 Hs.192326 1643801;1772505;1799380;1800586;1800718;1804850;1805142;1806036;1806984;1810070;1812540;1813698;1814516;1814588;1815578;1815580;1816340;1817700;1819684;1821014;1822334;1822934;1824916;1827762;1829340;1831352;1831842;1831952;1832604;1833226;1833558;1834284;1835450;1836262;1837372;1838230;1840684;1842076;1843230;1843942;1844736;1846348;1851532;1928004;1928006;1928008;1928010;1928012;1928014;1928016;1928018;1928020;1928022;1928024;1928026;1928028;1928030;1928032;1928034;1928036;1928038;1928040;1928042;1928044;1928046;1928048;1928050;1928052;1928054;1928056;1928058;1928060;1928062;1928064;1928066;1928068;1928070;1928072;1928074;1928076;1928078;1928080;1928082;1928084;1928086;1928088;1928090;1928092;1928094;1928096;1928098;1928100;1928102;1928104;1928106;1928108;1928110;1928112;1928114;1928116;1928118;1928120;1928122;1928124;1928126;1928128;1928130;1928132;1928134;1928136;1928138;1928140;1928142;1928144;1928146;1928148;1928150;1928152;1928154;1928156;1928158;1928160;1928162;1928164;1928166;1928168;1928170;1928172;1928174;1928176;1928178;1928180;1928182;1928184;1928186;1928188;1928190;1928192;1928194;1928196;1928198;1928200;1928202;1928204;1928206;1928208;1928210;1928212;1928214;1928216;1928218;1928220;1928222;1928224;1928226;1928228;1928230;1928232;1928234;1928236;1928238;1928240;1928242;1928244;1928246;1928248;1928250;1928252;1928254;1928256;1928258;1928260;1928262;1928264;1928266;1928268;1928270;1928272;1928274;1928276;1928278;1928280;1928282;1928284;1928286;1928288;1928290;1928292;1928294;1928296;1928298;1928300;1928302;1928304;1928306;1928308;1928310;1928312;1928314;1928316;1928318;1928320;1928322;1928324;1928326;1928328;1928330;1928332;1928334;1928336;1928338;1928340;1928342;1928344;1928346;1928348;1928350;1928352;1928354;1928356;1928358;1928360;1928362;1928364;1928366;1928368;1928370;1928372;1928374;1928376;1928378;1928380;1928382;1928384;1928386;1928388;1928390;1928392;1928394;1928396;1928398;1928400;1928402;1928404;1928406;1928408;1928410;1928412;1928414;1928416;1928418;1928420;1928422;1928424;1928426;1928428;1928430;1928432;1928434;1928436;1928438;1928440;1928442;1928444;1928446;1928448;1928450;1928452;1928454;1928456;1928458;1928460;1928462;1928464;1928466;1928468;1928470;1928472;1928474;1928476;1928478;1928480;1928482;1928484;1928486;1928488;1928490;1928492;1928494;1928496;1928498;1928500;1928502;1928504;1928506;1928508;1928510;1928512;1928514;1928516;1928518;1928520;1928522;1928524;1928526;1928528;1928530;1928532;1928534;1928536;1928538;1928540;1928542;1928544;1928546;1928548;1928550;1928552;1928554;1928556;1928558;1928560;1928562;1928564;1928566;1928568;1928570;1928572;1928574;1928576;1928578;1928580;1928582;1928584;1928586;1928588;1928590;1928592;1928594;1928596;2138020;2161541;2207980;2207982;2207984;2207986;2207988;2207990;2207992;2207994;2207996;2207998;2208000;2208002;2208004;2208006;2208008;2208010;2208012;2208014;2208016;2208018;2208020;2208022;2208024;2208026;2208028;2208030;2208032;2208034;2208036;2208038;2208040;2208042;2208044;2208046;2208048;2208050;2208052;5014467;5016478;5491272 ECD00540;ECD01154;ECD01220;ECD03360;ECD03514;ECD03971;ECD04457;ECD06027;ECD07280;ECD07872;ECD08288;ECD08324;ECD08825;ECD08826;ECD09212;ECD09902;ECD10909;ECD11583;ECD12255;ECD12555;ECD13557;ECD15003;ECD15801;ECD16812;ECD17059;ECD17114;ECD17442;ECD17755;ECD17922;ECD18290;ECD18881;ECD19292;ECD19853;ECD20287;ECD21533;ECD22241;ECD22823;ECD23183;ECD23583;ECD24394;GDB:313557;GDB:434012;MARC_7153-7154:992008256:1;REN34828;REN34829;REN34830;REN34831;REN34832;REN34833;REN34834;REN34835;REN34836;REN34837;REN34838;REN34839;REN34840;REN34841;REN34842;REN34843;REN34844;REN34845;REN34846;REN34847;REN34848;REN34849;REN34850;REN34851;REN34852;REN34853;REN34854;REN34855;REN34856;REN34857;REN34858;REN34859;REN34860;REN34861;REN34862;REN34863;REN34864;REN34865;REN34866;REN34867;REN34868;REN34869;REN34870;REN34871;REN34872;REN34873;REN34874;REN34875;REN34876;REN34877;REN34878;REN34879;REN34880;REN34881;REN34882;REN34883;REN34884;REN34885;REN34886;REN34887;REN34888;REN34889;REN34890;REN34891;REN34892;REN34893;REN34894;REN34895;REN34896;REN34897;REN34898;REN34899;REN34900;REN34901;REN34902;REN34903;REN34904;REN34905;REN34906;REN34907;REN34908;REN34909;REN34910;REN34911;REN34912;REN34913;REN34914;REN34915;REN34916;REN34917;REN34918;REN34919;REN34920;REN34921;REN34922;REN34923;REN34924;REN34925;REN34926;REN34927;REN34928;REN34929;REN34930;REN34931;REN34932;REN34933;REN34934;REN34935;REN34936;REN34937;REN34938;REN34939;REN34940;REN34941;REN34942;REN34943;REN34944;REN34945;REN34946;REN34947;REN34948;REN34949;REN34950;REN34951;REN34952;REN34953;REN34954;REN34955;REN34956;REN34957;REN34958;REN34959;REN34960;REN34961;REN34962;REN34963;REN34964;REN34965;REN34966;REN34967;REN34968;REN34969;REN34970;REN34971;REN34973;REN34974;REN34975;REN34976;REN34977;REN34978;REN34979;REN34980;REN34981;REN34982;REN34983;REN34984;REN34985;REN34986;REN34987;REN34988;REN34989;REN34990;REN34991;REN34992;REN34993;REN34994;REN34995;REN34996;REN34997;REN34998;REN34999;REN35000;REN35001;REN35002;REN35003;REN35004;REN35005;REN35006;REN35007;REN35008;REN35009;REN35010;REN35011;REN35012;REN35013;REN35014;REN35015;REN35016;REN35017;REN35018;REN35019;REN35020;REN35021;REN35022;REN35023;REN35024;REN35025;REN35026;REN35027;REN35028;REN35029;REN35030;REN35031;REN35032;REN35033;REN35034;REN35035;REN35036;REN35037;REN35038;REN35039;REN35040;REN35041;REN35042;REN35043;REN35044;REN35045;REN35046;REN35047;REN35048;REN35049;REN35050;REN35051;REN35052;REN35053;REN35054;REN35055;REN35056;REN35057;REN35059;REN35060;REN35061;REN35062;REN35063;REN35064;REN35065;REN35066;REN35067;REN35068;REN35069;REN35070;REN35071;REN35072;REN35073;REN35074;REN35075;REN35076;REN35077;REN35078;REN35079;REN35080;REN35081;REN35082;REN35083;REN35084;REN35085;REN35086;REN35087;REN35088;REN35089;REN35090;REN35091;REN35092;REN35093;REN35094;REN35095;REN35096;REN35097;REN35098;REN35099;REN35100;REN35101;REN35102;REN35103;REN35104;REN35105;REN35106;REN35107;REN35108;REN35109;REN35110;REN35111;REN35112;REN35113;REN35114;REN35115;REN35116;REN35117;REN35118;REN35119;REN35120;REN35121;REN35122;REN35123;REN35124;REN35125;REN35126;RH11820;RH45420;RH64610;RH64656;SHGC-5606;stSG627328;stSG627329;stSG627330;stSG627332;stSG627333;stSG627334;stSG627335;stSG627336;stSG627337;stSG627338;stSG627339;stSG627340;stSG627341;stSG627342;stSG627343;stSG627344;stSG627345;stSG627346;stSG627347;stSG627348;stSG627352;stSG627353;stSG627354;stSG627355;stSG627356;stSG627357;stSG627359;stSG627360;stSG627361;stSG627362;stSG627363;stSG627364;stSG627365;stSG627366;stSG627367;stSG627368;stSG627369 KIAA0488;MGC126871;MGC126873;MGC20471;MRT1;MY014 OTTHUMP00000015250;OTTHUMP00000015251;OTTHUMP00000042487;methamphetamine-responsive transcript 1;sorting nexin-27 APPROVED protein-coding ENSG00000143376 HGNC:20073 11591 611541 REVIEWED 1353452 SNX9 sorting nexin 9 This gene encodes a member of the sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013] 6 6 6 q25.1-q26 158893214 159014998 + 158137078 158366109 + 157716046 157945077 + 1580863;6480464;8554872 10531379;11485546;11799118;11879186;12477932;12952949;14574404;14679214;14702039;15231747;15299020;15489334;15703209;16137687;16316319;16344560;16374509;16585770;16903783;16964398;17110338;17242350;17609109;17948057;18065239;18353773;18388313;18682798;18940612;19056867;19092055;19807924;20088948;20129922;20379614;20491914;20964629;21139048;21145461;21890473;21906983;21963094;22586326;22718350;22745667;23861900;24816145;25027693 51429 B3KXH8;Q9Y5X1 AB209736;ABBA01021106;AF001629;AF076957;AF121859;AF131214;AF172847;AF190158;AJ420452;AJ420512;AK026637;AK127345;AK314360;AL035634;AL133510;AL139330;AL391863;AMYH02014831;AMYH02014832;AMYH02014833;BC001084;BC005022;BG766499;CH471051;DA315945;DA336311;NM_016224;XM_005267015 AAD00898;AAD27832;AAD43001;AAF04473;AAH01084;AAH05022;AAL54871;AAQ13702;ABM84226;ABM87788;BAD92973;BAG36992;BAG54490;EAW47668;EAW47669;NP_057308;Q9Y5X1;XP_005267072 Hs.191213 1670601;1682553;1683203;1754159;1848241;2139020;2172386;2185522;5014865;5022200;5022651 D11S2921;D12S1332;L18426;RH15827;RH18342;RH26809;RH92174;SHGC-132189;STS-AA010032;STS-R69163;WI-19319 MST155;MSTP155;SDP1;SH3PX1;SH3PXD3A;WISP OTTHUMP00000017492;SH3 and PX domain-containing protein 1;SH3 and PX domain-containing protein 3A;SH3 and PX domain-containing protein SH3PX1;Wiskott-Aldrich syndrome protein (WASP) interactor protein;sorting nexin-9 APPROVED protein-coding ENSG00000130340 HGNC:14973 12072 605952 REVIEWED 730963 SOAT2 sterol O-acyltransferase 2 Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 53145169 53166217 + 53497274 53518323 + 53103490 53124539 + 1581189;1581190;1581191;1556516;1625282;1601112;1581921;625687;1580863;730139;6480464 11100118;11967026;12217884;14557872;15242859;15486318;16195894;16274362;17431188 10846185;11042153;11071899;11294643;11325614;11401500;12477932;12621162;12808042;14615411;14729857;15308631;15451793;15782160;15961790;15992359;16230498;16331323;16647063;17303779;18676680;19170196;19625176;19692168;19878569;19913121;20628086;23824909;24103759;8650549;9242919;9756919;9756920 8435 F5H7W4;F8VPE9;O75908 ABBA01008314;AC073573;AF059203;AF099031;AF331516;AF332857;AF332858;AMYH02026512;AMYH02026513;AMYH02026514;BC096090;BC096091;BC096092;BC099626;CH471054;NM_003578;XR_245960 AAC63998;AAC78335;AAH96090;AAH96091;AAH96092;AAH99626;AAK18275;AAK48829;EAW96665;NP_003569;O75908 Hs.656544 1646170;1657477;1671891;1747719;2219704 D12S2110;G64238;SOAT2__5282;STS-W84340;WI-11660 ACACT2;ACAT-2;ACAT2;ARGP2;MGC116732 OTTHUMP00000242062;acyl Co-A: cholesterol acyltransferase 2;acyl coenzyme A:cholesterol acyltransferase 2;acyl-CoA:cholesterol acyltransferase 2;acyl-coenzyme A:cholesterol acyltransferase 2;cholesterol acyltransferase 2 APPROVED protein-coding ENSG00000167780 HGNC:11178 03202 601311 REVIEWED 1605982 SOBP sine oculis binding protein homolog (Drosophila) The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011] 6 6 6 q21 108559766 108731020 + 107811317 107982513 + 107490113 107661309 + 6480464;7240710;8554872;8699517 12477932;14702039;16169070;20379614;21035105;21900206;23086935;8889548 55084 A7XYQ1;Q24K27 ABBA01026167;ABBA01026168;ABBA01026169;AK090879;AL096816;AL121957;AL671934;AMYH02014258;AMYH02014259;AMYH02014260;BC014859;BC091526;BC113966;BM684094;BX442875;CH471051;DQ507800;KF458244;NG_028200;NM_018013;XM_005267041;XM_005267042 A7XYQ1;AAH91526;AAI13967;ABF72848;BAC03537;EAW48397;EAW48398;EAW48399;NP_060483;XP_005267098;XP_005267099 Hs.445244 1341977;1654813;1710164;1740097;1752883;2116843;2162417;2174863;2185728 D6S1537;D6S1635;RH18478;RH36033;RH47900;RH47967;SGC32903;SHGC-106830;SHGC-82344 FLJ10159;JXC1;MRAMS OTTHUMP00000198925;jackson circler protein 1;sine oculis-binding protein homolog APPROVED protein-coding ENSG00000112320 HGNC:29256 07650 613667;613671 REVIEWED 731038 SOAT1 sterol O-acyltransferase 1 The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011] 1 1 1 q25 152371279 152432730 + 179262849 179327815 + 179293714 179358680 + 1300048;730139;1580863;6480464;8554872 11967026 10196189;10438503;10623671;11353332;11401500;11483630;12477932;12533546;12851640;14729857;15219857;15253151;15308631;15319423;15353128;15489334;15768051;15850387;15992359;16013913;16043284;16154994;16230498;16474185;16647063;16763159;17412327;17593314;17622762;18269457;18971559;19502590;19913121;20031551;20628086;21044950;21139048;21143839;21239516;21266192;21803834;21890473;21906983;21963094;21987572;22505724;22939629;23000965;23994608;24816145;2738092;3335499;8197480;8407899;9756919;9756920 6646 B1APM4;B4DFD8;P35610 ABBA01027814;ABBA01027815;AK026611;AK290659;AK294047;AK300551;AK310920;AK316401;AL355806;AL451075;AL512326;AL833625;AMYH02002231;AMYH02002232;AMYH02002233;BC028940;BQ182606;CH471067;DC344271;L21934;NG_030638;NM_001252511;NM_001252512;NM_003101;NR_045530 AAC37532;AAH28940;ABM82733;ABM85917;BAF83348;BAG57399;BAG62257;BAH14772;EAW91043;EAW91044;NP_001239440;NP_001239441;NP_003092;P35610 Hs.445588 1665879;1671595;1714145;1767923;2108939;2116638;2149197;5015404;5015861;5015961;5037552;5491756;7185938 D10S16;D15S1477;D1S1814E;D1S3424;D8S2279;G29235;L17705;RH119681;SHGC-75995;SOAT1;SOAT1__5281.2;WI-9273 ACAT;ACAT-1;ACAT1;RP11-215I23.2;SOAT;STAT ACACT;OTTHUMP00000033188;acyl-Coenzyme A: cholesterol acyltransferase;acyl-coenzyme A:cholesterol acyltransferase 1;cholesterol acyltransferase 1;sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 APPROVED protein-coding ENSG00000057252 HGNC:11177 00033 102642 REVIEWED 1314037 SNX8 sorting nexin 8 ENCODES a protein that exhibits identical protein binding; phosphatidylinositol binding; INVOLVED IN early endosome to Golgi transport; intracellular protein transport; FOUND IN early endosome membrane; retromer complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; copper(2+) sulfate 7 7 7 p22.3 2264329 2323538 - 2291405 2354099 - 2251770 2314464 - 1580863;6480464 11485546;12461558;12477932;12690205;15489334;17474147;19782049;20467438;20889312;21139048;21906983;21973056;22688191;22939629;23000965;23974872;24250222;24311514;24654937 29886 C9IYC5;C9J014;C9J271;C9J8E6;C9JCB9;Q9Y5X2 ABBA01039362;ABBA01039363;ABBA01039364;ABBA01039365;AC004971;AF121858;AK074544;AK315670;AL713633;AMYH02015064;AMYH02015065;AMYH02015066;BC007785;BC014395;BC021565;BP320122;CH236953;CH471144;NM_013321 AAD27831;AAH07785;AAH21565;ABM83434;ABM86648;BAG38035;EAL23950;EAW87235;NP_037453;Q9Y5X2 Hs.584900 DKFZp761E1721;Mvp1 OTTHUMP00000200137;sorting nexin-8 protein-coding ENSG00000106266 HGNC:14972 11592 614905 VALIDATED 6768907 SOCS2-AS1 SOCS2 antisense RNA 1 12 12 12 q22 93630041 93636615 - 93936237 93965544 - 93565628 93571398 - 14702039;24168098 144481 ABBA01053373;ABBA01053374;AC012085;AC025260;AK054607;AMYH02026948;NR_038263 Hs.602278;Hs.733244 1679894 RH98660 APPROVED ncrna ENSG00000246985 HGNC:27054 VALIDATED 1352978 SOCS2P1 suppressor of cytokine signaling 2 pseudogene 1 20 20 20 q11.21 28529088 28529989 + 31775198 31776099 + 33187392 33188293 + 276719 ABBA01019238;AL121901;AMYH02036945;NG_002411 pseudo HGNC:16069 INFERRED 1349432 SOCS2P2 suppressor of cytokine signaling 2 pseudogene 2 22 22 22 q11.2 6341834 6343468 - 22524349 22525988 - 22169956 22171602 - 9074928 266701 ABBA01055082;AC245517;D87000;NG_000002 pseudo HGNC:19330 VALIDATED 1315155 SOCS4 suppressor of cytokine signaling 4 The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q22.1 35543338 35565701 + 55493844 55516207 + 55027126 55049489 + 1357941;1580863;2303397;6480464;6907045 14607831;17880360 10500304;12076535;12477932;14702039;15489334;15590694;17207965;17997974;19423540;20406964;20433750;20438785;20486857;21145461;21988832;22127425;22423360;23990909;24250222 122809 Q5H9R6;Q8WXH5 ABBA01018200;ABBA01018201;AF424815;AK056685;AK124083;AK126195;AK127299;AL139316;AL160471;AL352982;AMYH02029230;AMYH02029231;BC060790;BX161418;BX648734;CD109883;CH471061;CR933659;NM_080867;NM_199421 AAH60790;AAL60517;ADQ32995;BAG54001;CAD61893;CAI45958;EAW80655;NP_543143;NP_955453;Q8WXH5 Hs.744302 2136727;2156959;5093890;5492787;5493995 A009Y22;G32984;RH68698;UniSTS:480684;UniSTS:482558 DKFZp686J1568;SOCS-4;SOCS-7;SOCS7 OTTHUMP00000179008;OTTHUMP00000244923;SH2 domain containing SOCS box protein;suppressor of cytokine signaling 7 APPROVED protein-coding ENSG00000180008 HGNC:19392 18084 REVIEWED 7175182 SOCS5P1 suppressor of cytokine signaling 5 pseudogene 1 7 7 7 80550123 80551065 - 85846101 85847043 - 86216785 86217727 - 100420754 ABBA01045877;AC006374;AMYH02016206;CH236949;NG_026489 pseudo HGNC:44597 INFERRED 7175921 SOCS5P2 suppressor of cytokine signaling 5 pseudogene 2 9 9 9 q34.3 108856424 108858775 + 138339292 138341643 + 135447446 135449797 + 100128299 ABBA01030035;AL161452;AMYH02021869;NG_021679 1720359;1786896 RH123930;SHGC-106105 pseudo HGNC:44598 INFERRED 7175198 SOCS5P3 suppressor of cytokine signaling 5 pseudogene 3 3 3 3 p21.31 44688789 44690364 - 44750803 44752378 - 44709311 44710886 - 100127945 ABBA01024737;AC124045;AMYH02006651;NG_022203 pseudo HGNC:44599 INFERRED 1346055 SOCS5 suppressor of cytokine signaling 5 The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008] 2 2 2 p21 46764784 46828608 + 46926099 46989927 + 46698960 46762788 + 1580863;1357941;6480464;6484113;6907045;8554872 14607831 10773671;11230166;11553846;11835308;11837794;12076535;12242343;12477932;14707129;14968112;15489334;15590694;15695332;16210657;20137421;20802378;20881960;21048031;21145461;21685187;21832049;21988832;22081311;22423360;22773185;23314748;23990909;24340963;24376456;9419338;9734811 9655 O75159 AB014571;ABBA01075140;ABBA01075141;ABBA01075142;ABBA01075143;AC020604;AF073958;AI433294;AK290194;AL136896;AMYH02003741;AMYH02003742;BC032862;CH471053;NM_014011;NM_144949 AAD40484;AAH32862;AAY24289;ABM82139;ABM85322;BAA31646;BAF82883;CAB66830;EAX00235;EAX00236;EAX00237;NP_054730;NP_659198;O75159 Hs.468426 1644325;1756877;1796856;2156148;2173050;5093328 A009L30;G32655;RH69691;RH69870;SHGC-144045;SOCS5_1721 CIS-6;CIS6;CISH6;Cish5;KIAA0671;SOCS-5 OTTHUMP00000159072;OTTHUMP00000200252;cytokine-inducible SH2 protein 6;cytokine-inducible SH2-containing protein 5 APPROVED protein-coding ENSG00000171150 HGNC:16852 06159 607094 REVIEWED 7175947 SOCS5P4 suppressor of cytokine signaling 5 pseudogene 4 X X X q13.1 70616948 70619185 - 70263064 70265320 - 71043214 71045470 - 100132415 ABBA01067654;AL590764;AMYH02039670;NG_028788 pseudo HGNC:44600 INFERRED 7176201 SOCS5P5 suppressor of cytokine signaling 5 pseudogene 5 6 6 6 q21 114284690 114286593 + 113543368 113545271 + 113222166 113224069 + 643884 ABBA01026072;AL049695;AL162720;AMYH02014325;NG_022369 pseudo HGNC:44601 INFERRED 1312180 SOCS6 suppressor of cytokine signaling 6 The protein encoded by this gene contains a SH2 domain and a CIS homolog domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by GM-CSF and EPO in hematopoietic cells. A high expression level of this gene was found in factor-independent chronic myelogenous leukemia (CML) and erythroleukemia (HEL) cell lines. [provided by RefSeq, Jul 2008] 18 18 18 q22.2 64803527 64844775 + 67956137 67997435 + 70288901 70330199 + 1625125;1580863;1357941;6480464 14607831;17010638 11042152;11342531;12052866;12076535;12477932;14702039;14707129;15761153;16643902;17210122;17603019;18204098;19646809;19716864;19913121;20007709;20379614;20628086;21030588;21048031;21145461;21906983;21988832;22081311;22363434;22939624;22952242;22955947;23455924;23475171;23653113;24801601;25025962;9344848 9306 J3KTM7;O14544 AB006968;ABBA01056291;ABBA01056292;ABBA01056293;AC023395;AF161545;AK024356;AMYH02034933;AMYH02034934;BC020082;CH471117;NM_004232;XM_005266783;XM_006722577 AAF29032;AAH20082;BAA22538;EAW66522;EAW66523;EAW66524;NP_004223;O14544;XP_005266840;XP_006722640 Hs.44439 1656920;1682131;1717315;1726749;1798212;2114118;5021696 AB060232;G62762;RH122148;RH94380;SOCS6_2453;STS-N33129;ksks24 CIS-4;CIS4;HSPC060;SOCS-4;SOCS-6;SOCS4;SSI4;STAI4;STATI4 OTTHUMP00000163710;STAT induced STAT inhibitor-4;cytokine-inducible SH2 protein 4;suppressor of cytokine signaling 4 APPROVED protein-coding ENSG00000170677 HGNC:16833 05491 605118 REVIEWED 1317076 SOCS7 suppressor of cytokine signaling 7 INVOLVED IN fat cell differentiation (inferred); insulin receptor signaling pathway (inferred); intracellular signal transduction (inferred); PARTICIPATES IN insulin signaling pathway; Jak-Stat signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular membrane-bounded organelle; nucleolus; nucleus; INTERACTS WITH 3-methylcholanthrene; carbamazepine; diclofenac 17 17 17 q12 33168273 33215998 + 36508007 36561846 + 38352124 38405593 + 1625125;1580863;1357941;6480464;6907045;8554872 14607831;17010638 10969179;11837794;12052866;12076535;12477932;14644140;14702039;15242778;15489334;15677474;16127460;16625196;16751776;17803907;18029348;20357037;20433750;21145461;22213096;22397880;23392170;23535730;9344857;9419338 30837 O14512 AA233668;AB005216;ABBA01031927;ABBA01031928;AC115992;AC124789;AC183084;AC244092;AC244153;AI223248;AK094338;AW613025;BC121030;BC121031;BC128607;CH471152;DQ593634;NM_014598;XM_005257264;XM_005257265;XM_005276891;XM_005276892;XR_243651;XR_254229;XR_429888;XR_430781 AAI28608;AAI67822;BAA22432;EAW60512;NP_055413;O14512;XP_005257321;XP_005257322;XP_005276948;XP_005276949 Hs.514132 2123013;2123015;5015959;5024761;5037554 A005S24;D10S2448;D8S2282;G20462;RH36905 NAP-4;NAP4;NCKAP4;SOCS-7 NCK-associated protein 4;Nck, Ash and phospholipase C binding protein;nck, Ash and phospholipase C gamma-binding protein protein-coding ENSG00000274211 HGNC:29846 12299 608788 VALIDATED 1347441 SOCS1 suppressor of cytokine signaling 1 This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008] 16 16 16 p13.13 11517679 11519444 - 11348274 11350039 - 11254417 11256182 - 1625125;1580863;2298920;2298909;2298918;2298903;2298906;2298907;2298899;2298924;634751;2290486;2298904;1625677;2298923;6480464;6484113;6907045 11027633;11312157;12644450;12888825;15169905;15240880;15361843;16242928;16377761;16458425;16878360;17010638;17522834;18381452 10022833;10051596;10064597;10455112;10490100;10512686;10517496;10585430;10679190;10707961;10747851;10764816;11133764;11208867;11297560;11314018;11342531;11384984;11445538;11553846;11696536;11713228;11835308;11854514;11889171;11907070;11971965;12070153;12076535;12077274;12080466;12163497;12163560;12228220;12456503;12470648;12477932;12485838;12601549;12759928;12865927;12900355;14522994;14614012;14614901;14630083;14634100;14690596;14762685;14968112;14976049;15021916;15074307;15121754;15166476;15197228;15198092;15235874;15240148;15373779;15386345;15456882;15522878;15545275;15589317;15688010;15850793;16082380;16273093;16287070;16407264;16410555;16415872;16421738;16429138;16432158;16498413;16532038;16628196;16815301;16943387;16984412;17001312;17083795;17099141;17183367;17230231;17264307;17276034;17315216;17438093;17589943;17652621;17867599;17888401;17898043;17974915;18035697;18172216;18199397;18203295;18250407;18355908;18440067;18508766;18538318;18551144;18556463;18639978;18656467;18725457;18776134;18801363;18815196;18820827;18928596;18971287;18987746;19000444;19017994;19047140;19135225;19164812;19215277;19240061;19287004;19327355;19342366;19419769;19423540;19482358;19515423;19542368;19543316;19551406;19561639;19592492;19595407;19617348;19622834;19727727;19734231;19734449;19802344;19846529;19913121;19915063;20005840;20064913;20137421;20145416;20164024;20190752;20299783;20331378;20354188;20372794;20395963;20398276;20406299;20406964;20423643;20433750;20438785;20538233;20588308;20596075;20622265;20628086;20633028;20648401;20689596;20724312;20840058;20883163;20934424;21079688;21084693;21119685;21190606;21234523;21263070;21291295;21337543;21355095;21368418;21385099;21622562;21653641;21685897;21716315;21724255;21734367;21757742;21795592;21802214;21841072;21899704;21935712;22004035;22025331;22095154;22257840;22363329;22482804;22487676;22488585;22587677;22670716;22739986;22745793;22787435;22951153;22994783;23001011;23089475;23111066;23128233;23134344;23151489;23152563;23164156;23229770;23237992;23242177;23285955;23296022;23320781;23348614;23375208;23430957;23434273;23437123;23455319;23469018;23545584;23553658;23568457;23621248;23702664;23723424;23727477;23768868;23817566;23962256;24018353;24058673;24086733;24131863;24250222;24423713;24460337;24595859;24636575;24951315;25019494;7796808;9202125;9202126;9266833;9341160;9344848;9727029 8651 O15524;Q4JHT5 AB000676;AB000734;AB005043;ABBA01006810;AC009121;AF132440;AK127621;AMYH02031462;BC029307;CH471112;DQ086801;FB571467;HI573982;NM_003745;U88326;Z46940 AAB62401;AAD27709;AAI48543;AAI53089;AAY87931;BAA21537;BAA22431;BAA23521;BAG54535;CAB92528;CAR95151;CBX47480;EAW85163;NP_003736;O15524 Hs.50640 1681628;1793832;5493495 PMC298718P1;RH91351;UniSTS:486896 CIS1;CISH1;JAB;SOCS-1;SSI-1;SSI1;TIP-3;TIP3 JAK binding protein;JAK-binding protein;OTTHUMP00000160221;STAT induced SH3 protein 1;STAT-induced STAT inhibitor 1;Tec-interacting protein 3;cytokine-inducible SH2 protein 1 2315775 GLUCO145_H APPROVED protein-coding ENSG00000185338 HGNC:19383 04669 603597 REVIEWED 7241101 SOD1P2 superoxide dismutase 1, soluble pseudogene 2 16 16 51141491 51141931 + 51107580 51108020 + 100652974 ABBA01000861;AC009166;AMYH02032020;NG_032733 pseudo HGNC:45135 INFERRED 7253475 SOD1P3 superoxide dismutase 1, soluble pseudogene 3 101060005 pseudo HGNC:45136 1352815 SOCS2 suppressor of cytokine signaling 2 This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 12 12 12 q 93634235 93640615 + 93963598 93970521 + 93569822 93586288 + 1580863;2298924;2298909;2298902;2298907;2298926;2298928;2298925;6480464;6484113;6907045 11723173;12644450;12888825;15159323;15361843;16707422;17651480 10453981;10455112;10512686;10585430;10890450;11034314;11781573;11835308;11861294;11889171;12076535;12135564;12477932;12552091;15489334;15644415;16097082;16189514;16199887;16344560;16406727;16675548;16684815;16961462;17008382;17264307;17325857;17666591;17703412;17898043;18391951;18391952;18508766;18769447;18820827;18844680;19159283;19258923;19266077;19279332;19423540;19779605;19913121;20136974;20237496;20406964;20438785;20503287;20543098;20546612;20628086;20802378;20881960;21048031;21145461;21234523;21844389;21980433;21988832;22291912;22745742;22768656;22795647;23098073;23449627;23475171;23548639;23563607;23567159;23897481;23898208;24031028;24131863;25025962;9202403;9266833;9344848;9727029 8835 F8VRV3;F8VS53;F8VU91;O14508;S4R3W1;S4R3Z4 AB004903;AB006966;AB451318;ABBA01053372;ABBA01053373;ABBA01053374;ABBA01053375;AC012085;AF020590;AF037989;AF132441;AI129818;AK290546;AK297662;AK309452;AK313165;AL522912;AMYH02026948;BC010399;BC070039;BJ996504;CD699665;CH471054;DA490057;DA709082;DB054162;DB481261;DC300183;NM_001270467;NM_001270468;NM_001270469;NM_001270470;NM_001270471;NM_003877;XM_005269213;XM_006719673;XM_006719674 AAC34745;AAC98896;AAD27710;AAH10399;BAA22429;BAA22536;BAF83235;BAG35983;BAG60027;BAG70132;EAW97492;EAW97493;NP_001257396;NP_001257397;NP_001257398;NP_001257399;NP_001257400;NP_003868;O14508;XP_005269270;XP_006719736;XP_006719737 Hs.485572;Hs.594327;Hs.736572;Hs.737206 1675870;1690956;1793834;2113578;2124291 D12S2130;PMC298718P2;RH80947;RH99191;SOCS2_V159 CIS-2;CIS2;Cish2;SOCS-2;SSI-2;SSI2;STATI2 OTTHUMP00000243097;STAT induced STAT inhibitor-2;STAT-induced STAT inhibitor 2;STAT-induced STAT inhibitor-2;cytokine-inducible SH2 protein 2;suppressor of cytokine signaling-2 APPROVED protein-coding ENSG00000120833 HGNC:19382 05490 605117 REVIEWED 7241984 SOD2P1 superoxide dismutase 2, mitochondrial pseudogene 1 1 1 1 101835156 101835723 - 103565696 103566263 - 103100140 103100707 - 100421046 ABBA01045414;AC093150;AMYH02001582;NG_026965 pseudo HGNC:45268 INFERRED 730833 SOCS3 suppressor of cytokine signaling 3 This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 72946889 72950188 - 76352858 76356160 - 78356777 78360079 - 1625125;1625684;1625677;625688;1625683;1625676;632385;1625688;730264;1580863;1357935;2313788;2313787;2313790;2298909;2298924;2298920;2298901;2313789;634751;2298899;2298923;2298904;6480464;6484113;6907045 11027633;11312157;12039028;12217886;12392283;12437578;12644450;12888825;14614901;15169905;15240880;15331532;16507131;16878360;16920065;17010638;17295835;17405912;17513737;17562326;18097573;18381452 10051596;10373548;10421843;10490101;10585430;10707961;10777583;10837055;10882725;10946280;11018044;11034314;11071852;11076863;11279517;11314018;11331873;11481489;11713228;11727828;11786421;11867182;11889171;11970967;12027890;12070153;12076535;12133942;12163560;12182826;12198248;12228220;12351404;12403768;12459551;12477932;12560330;12565872;12626585;12654831;12688541;12783885;12847520;14559241;14617776;15070676;15163721;15213237;15217536;15240148;15249995;15300962;15308667;15361843;15385932;15489334;15489336;15514089;15589317;15601820;15607366;15618960;15629435;15939448;16007169;16007195;16055089;16169070;16199887;16210657;16344560;16374465;16381901;16402267;16407264;16410555;16543409;16568091;16685656;16709613;16805839;16822822;16831601;16914720;16943387;17001312;17083795;17135358;17138568;17148681;17241887;17264307;17273770;17297444;17325857;17363902;17374732;17438093;17445271;17530721;17589943;17605868;17636039;17668875;17703412;17881539;17895321;17935223;17974915;18031698;18045952;18055217;18199397;18240972;18250407;18414649;18440067;18507841;18538318;18549612;18571793;18636124;18656467;18660489;18687693;18752121;18770864;18815196;18820827;18941624;18952062;18971287;18986700;18989459;19027008;19036437;19052638;19077438;19083014;19115200;19129540;19164812;19225535;19229050;19231005;19258923;19423540;19524687;19543316;19592492;19595407;19617629;19634073;19643162;19737863;19803812;19913854;19951849;20005910;20067961;20130595;20136974;20137421;20155426;20231901;20237496;20335309;20351777;20372794;20375166;20398276;20406964;20433750;20438785;20468064;20478455;20484656;20503287;20504769;20588308;20631305;20673263;20689596;20690084;20717995;20840058;20934424;21029588;21042758;21173340;21190606;21234523;21239736;21263153;21275162;21308719;21325601;21337543;21354254;21360047;21385272;21451109;21478033;21481788;21490101;21545585;21547863;21590492;21685897;21734367;21765854;21832049;21876460;21892197;21898505;21900206;21934357;21963094;21988832;22075701;22084247;22093833;22260693;22266116;22294695;22311708;22342841;22425648;22487676;22488585;22532676;22535619;22547065;22560881;22574771;22575502;22576756;22587677;22591635;22613986;22632162;22739025;22739986;22745793;22768656;22787435;22820139;22848642;22925925;22951153;22957141;23028842;23030674;23033269;23046072;23108375;23111066;23133602;23152563;23154639;23164156;23185530;23206599;23226414;23229770;23274199;23302305;23320781;23335796;23360921;23375208;23392112;23430705;23430957;23432547;23454976;23472246;23490372;23545584;23553658;23554973;23686487;23720494;23782265;23803735;23816468;23824571;23894411;23898208;23910692;24084073;24088176;24131863;24212839;24354892;24414258;24491408;24584041;24595859;24607843;24631457;24636575;24659790;24711032;24827536;24833710;24932998;24939297;24951315;25019494;9266833;9344848 9021 K7EIF6;O14543;Q6FI39 AB004904;AB006967;ABBA01002927;ABBA01002928;AC061992;AF159854;AK309756;AK314212;AMYH02034054;AU134017;BC060858;BE048635;BE245649;BT019544;CH471099;CR536497;CR541694;DA671124;NG_016851;NM_003955 AAD42231;AAH60858;AAV38351;BAA22430;BAA22537;BAG36886;CAG38736;CAG46495;CAL37774;CAL38024;CAL38368;EAW89521;EAW89522;NP_003946;O14543 Hs.527973;Hs.703620 1299971;1698746;1792340;1793770;1793836;1793838;1796854;7187054 D17S784;PMC148819P2;PMC283558P1;PMC298718P3;PMC298718P4;RH102936;SOCS3_1736 ATOD4;CIS-3;CIS3;Cish3;MGC71791;SOCS-3;SSI-3;SSI3 STAT-induced STAT inhibitor 3;cytokine-induced SH2 protein 3;cytokine-inducible SH2 protein 3 APPROVED protein-coding ENSG00000184557 HGNC:19391 05006 604176 REVIEWED 1347447 SOGA3 SOGA family member 3 INVOLVED IN regulation of autophagy (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space (inferred); integral component of membrane (inferred); INTERACTS WITH 3-methylcholanthrene; all-trans-retinoic acid; arsenite(3-) 6 6 6 q22.33 128501795 128582743 - 127759551 127841938 - 127438406 127519355 - 6480464;8554872 12477932;14574404;14702039;19505873 387104 A5PLQ8;E9PJP2;Q5TF21 ABBA01025931;AK091416;AK096490;AK309423;AL583806;AMYH02014449;BC020441;BC127760;BC143043;BC143044;BE552225;BE779627;CH471051;DC377915;NM_001012279 AAI27761;AAI43044;AAI43045;AAI56254;AAI57035;EAW48100;NP_001012279;Q5TF21 Hs.319247 1643899;1653424;1723819;1750461;1774689;2118325;2121678;2143572;2147177;2149428;2184493;5021872;5022578 D1S1423;RH118646;RH37401;RH46655;RH46738;RH47312;RH65429;SHGC-111767;SHGC-30315;SHGC-34704;STS-F04688;WI-15819;sY3084 C6orf174;dJ403A15.3 OTTHUMP00000232099;hypothetical protein LOC387104;uncharacterized protein C6orf174 APPROVED protein-coding ENSG00000255330 HGNC:21494 16661 VALIDATED 1605184 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] 9 9 9 q34.3 109103027 109109205 - 138585253 138591374 - 135693407 135700401 - 6480464;8554872 12477932;16344560;16690745;17305537;20506135;22328502;23346521;23784828 402381 Q5JUK2 ABBA01030041;AL158822;AMYH02021878;AY884306;AY902244;BC031861;CH471090;DB307692;DB339952;EB710265;NG_033784;NM_001012415;NM_001101677;XM_005263403;XM_006717109 AAH31861;AAW78548;AAW82617;EAW88174;EAW88175;EAW88176;NP_001012415;NP_001095147;Q5JUK2;XP_005263460;XP_006717172 Hs.120464 1701422 RH104343 C9orf157;NOHLH;SPATA27;TEB2;bA100C15.3;bHLHe80 OTTHUMP00000022556;newborn ovary helix loop helix;spermatogenesis associated 27;spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 protein-coding ENSG00000165643 HGNC:27845 16678 610224 REVIEWED 1603036 SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another testis-specific transcription factor, SOHLH1, can form heterodimers, in addition to homodimers. There is a read-through locus (GeneID: 100526761) that shares sequence identity with this gene and the upstream CCDC169 (GeneID: 728591). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] 13 13 13 q13.3 17809516 17855920 - 36742345 36788752 - 36168208 36214615 - 6480464 12477932;14702039;16189514;16344560;17305537;17967063;19834535;21296871;21963094;22566634;23346521;24524832 54937 Q9NX45 ABBA01021363;AI368806;AK000456;AL160392;AMYH02027865;AY884305;BC025383;CH471075;DB022954;NG_033786;NM_001282147;NM_017826 AAH25383;AAW78547;BAA91175;EAX08552;EAX08554;EAX08555;EAX08556;NP_001269076;NP_060296;Q9NX45 Hs.124519 FLJ20449;FLJ57222;SPATA28;TEB1;bHLHe81 OTTHUMP00000018247;OTTHUMP00000221747;spermatogenesis associated 28;spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 protein-coding ENSG00000120669 HGNC:26026 07910 REVIEWED 1606708 SONP1 SON pseudogene 1 1 1 1 q23.1 130749967 130752456 + 157678786 157681275 + 157708996 157711485 + 8503959 148300 ABBA01016637;AL356276;AMYH02001997;NG_001549;X63754;X71604 1716161;1743447;1813600;2029434;2029624;2134799 ECD07823;GDB:335409;REN85723;REN85818;RH121103;SHGC-87574 pseudo HGNC:30608 INFERRED 1352015 SOGA1 suppressor of glucose, autophagy associated 1 INVOLVED IN insulin receptor signaling pathway (ortholog); negative regulation of gluconeogenesis (ortholog); regulation of autophagy (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene diol epoxide I; crotonaldehyde; paracetamol 20 20 20 q11.23 32113367 32199596 - 35405845 35492087 - 36777442 36863684 - 6480464;8554872 10048485;10737800;11780052;12477932;14676191;14702039;15302935;15489334;19056867;20360068;20813965;20936779;21139048;21890473;21906983;21963094;22586326;23000965 140710 H0YDM2;O94964;X6R3R3 AB020696;ABBA01006589;ABBA01006590;ABBA01006591;ABBA01006592;ABBA01006593;ABBA01006594;AK022023;AK057056;AK094762;AK126630;AK131491;AL079335;AL132768;AL391602;AL833153;AL935080;AMYH02037037;AMYH02037038;AMYH02037039;AW450158;BC113405;BC113433;BF944938;BK007092;BM464536;BQ027014;CH471077;NM_080627;NM_199181 AAI13406;AAI13434;AAI48415;BAA74912;BAB13954;BAC86621;BAG54771;DAA34786;EAW76094;EAW76095;EAW76096;EAW76097;EAW76098;EAW76099;EAW76100;NP_542194;NP_954650;O94964 Hs.460807 1667569;1678073;2115462;2172158;2172160;5014039;5016478;5020414;5022578;5037552 A005W08;D1S1423;D20S622;D22S1584;D8S2279;G20546;GDB:434012;L17688;RH98788;SHGC-57358 C20orf117;FLJ44670;KIAA0889;SOGA;dJ132F21.1 OTTHUMP00000030870;OTTHUMP00000178800;SOGA family member 1;hypothetical protein LOC140710;suppressor of glucose by autophagy;suppressor of glucose from autophagy;suppressor of glucose, autophagy-associated protein 1;uncharacterized protein KIAA0889 APPROVED protein-coding ENSG00000149639 HGNC:16111 11116;13493;18553 VALIDATED 730872 SOD2 superoxide dismutase 2, mitochondrial This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 6 6 6 q25.3 160747601 160761803 - 160100148 160114353 - 159679116 159693321 - 1581148;1581214;1581220;1581222;1581231;1581233;1581234;1581235;1581236;1581237;1581238;1581239;1581240;1581241;1581242;1581243;1581244;1581245;1581246;1581247;1581248;1581249;1581250;1581251;1581252;1581253;1581254;1581255;1581256;1581257;1581258;1581259;1581260;1581262;1580836;1580837;1580838;1579972;1625694;1625699;1582141;1625695;1580833;1580840;1580863;2312364;2317411;2317382;2317410;2317403;2317406;6480464;7175518;7175536;7175539;7175540;6907045;7240710;8547532;8547519;8158104;8547533;8158102;8158049;8158052;8158048;8547524;8158046;8158078;8158079;8158101;8547517;8158103;7794853;8547522;8547521;8547534;8547520;8547525;8158044;8158043;8547516;8158045;8158047;8547526;8554872 10212301;10425186;11477087;11677043;11836586;11837748;11864929;12032821;12447859;12469139;12499913;12601034;12700280;12732398;12780723;12815947;12880680;12946273;12960753;14575298;14611903;14679299;14687717;15087276;15094225;15109710;15130280;15168344;15213518;15293270;15337840;15345661;15454275;15512801;15591282;15612529;15681709;15734485;15743779;15869407;15883815;15887859;15890620;15908783;16179351;16248885;16369462;16423340;16485861;16716903;17192491;17196988;17251466;17693525;17785574;17898259;17974967;18055805;18205184;18423055;18573360;19293779;19458120;19891634;20534900;20618948;20833513;21060756;21940907;22009531;22240151;2313102;23638916;23805041;23921602;24036105;24505357;7744320;8541726;8790408 10393559;10511315;10748080;10852710;11076863;11124296;11299047;11323405;11350569;11481695;11580280;11719088;11721640;11756571;11849743;11853549;11912921;11912930;11977425;12032830;12063011;12078513;12126755;12127599;12161520;12239572;123234;12477932;12517793;12540612;12551919;12590982;12592389;12624725;12627943;12644569;12673575;12683635;12684509;12711112;12829021;12948282;12963120;1394426;1427917;14503839;14515147;14574404;14578853;14638684;14643949;14688256;14702039;14704872;14729580;14744747;14975589;14980699;15075214;15087454;15088300;15131792;15166009;15184255;15196853;15217492;15223067;15247771;15266664;15308628;15330761;15331175;15338334;15386537;15455371;15489334;15489336;15512788;15534883;15535847;15581626;15589819;15598343;15610954;15621215;15673194;15701646;15705913;15706661;15734083;15743756;15765450;15767364;15774926;15781667;15809720;15817612;15838728;15878096;15894290;15923250;15933380;15951095;15952740;16006997;16047490;16076760;16084535;16107721;16148556;16157826;16166634;16169070;16170370;16206227;16215873;16281056;16324912;16381901;16424062;16458347;16467073;16475114;16510607;16538174;16540901;16543247;16626843;16630148;16740634;16769586;16780268;16780879;16792821;16807759;16819819;16847469;16859522;16868544;16933053;16945136;16956821;16956909;16966185;16966488;16969494;1699607;17005595;17018785;17055157;17085785;17142144;17145829;17149600;17171548;17186424;17188257;17211829;17217237;17277236;17290392;17291655;17293864;17296902;17299255;17299970;17331249;17336594;17340208;17353931;17376152;17400324;17409931;17449559;17453961;17459574;17465268;17473980;17491681;17548672;17548864;17549794;17567676;17575500;17577737;17582511;17588204;17601350;17616699;17617122;17628794;17634480;17646272;17652337;17653087;17719580;17822322;17879532;17922231;17936883;17965603;17967822;18023606;18044968;18057537;18095014;18160848;18167182;18167310;18180754;18247479;18258609;18291700;18296681;18305395;18327668;18373354;18387669;18396798;18413745;18434620;18460737;18466086;18469277;18490963;18553161;18569577;18571701;18582155;18583979;18636124;18646267;18653258;18676680;18676870;18682580;18683149;18689799;18720901;18760346;18775420;18784066;18784358;18790709;18821846;18829485;18829510;18834346;18845242;18930810;18930811;18930813;18977034;18977241;18987137;18989629;18996183;19012493;19016244;19064542;19064571;19074833;19074884;19074885;19100713;19124506;19151739;19156168;19157724;19167605;19170196;19213780;19219857;19228881;19242068;19254215;19262996;19265433;19293328;19302750;19306099;19336475;19339246;19339270;19368118;19376215;19385967;19405048;19420105;19423521;19423540;19428448;19451660;19467856;19474327;19493484;19505917;19509150;19521720;19526139;19528373;19533864;19538885;19558795;19622717;19623544;19625176;19628492;19628738;19636420;19641337;19647296;19666009;19692168;19696404;19706356;19712751;19715479;19731237;19752172;19753309;19754948;19755112;19756960;19778569;19787204;19789190;19822147;19834686;19847642;19863340;19880028;1988135;19896490;19900038;19902052;19913121;19917371;19929244;19946932;19948975;19949914;19955594;19958503;20000738;20003469;20012093;20041472;20043000;20052533;20056743;20061391;20082261;20082738;20082851;20086011;20089851;20097730;20107204;20109103;20137347;20139358;20143154;20144705;20150532;20170971;20204285;20204772;20206073;20206302;20214802;20226522;20233853;20237496;20301895;20309628;20346360;20346996;20357718;20378690;20406964;20416077;20417703;20437850;20438785;20441054;20444272;20459474;20461808;20477822;20478627;20485444;20501330;20514411;20536280;20538313;20567899;20578157;20598578;20598694;20627099;20628086;20638682;20643115;20644561;20649542;20673159;20690800;20712757;20714737;20728955;20734807;20802415;20851292;20856861;20863520;20872977;20877624;20878976;20931825;20966810;21052528;21053180;21056286;21056653;21062213;21069346;21072184;21130430;21131394;21139048;21167124;21181397;21223689;21268071;21351093;21419216;21434422;21434856;21527182;21536589;21553226;21566644;21574139;21619820;21619840;21725155;21727734;21741706;21756849;21773993;21781513;21804600;21829032;21832049;21890473;21904836;21988832;22070905;22089180;22108257;22119635;22167619;22170599;22171130;22193621;22206979;22218650;22261313;22302046;22330623;22348527;22386763;22429591;22432908;22516022;22517484;22537351;22547077;22561997;22580338;22688013;22699057;22704671;22705344;22710435;22710948;22738689;22825700;22829583;22939629;22958044;22959522;22972774;22983815;23000965;23030347;23033381;23056314;23111423;23138846;23142385;23167810;23212700;23219743;23221071;23237540;23271813;23289810;23315858;23333304;23500038;23583431;23611775;23620962;23649652;23679296;23685312;23725507;23771908;23773345;23784082;23792044;23873331;23886214;23952573;23956348;23990443;24035474;24037914;24119114;24146173;24161595;24164232;24186266;24248464;24448804;24462872;24483941;2462451;24667176;24811984;2738919;2831093;3399391;3684581;6386798;7493016;7498159;752518;7702755;7859743;7895732;8395050;8605177;8633092;8806673;8889548;9110146;9150946;9393747;9462746;9484232;9537987;9537988;9882443 6648 F5GXZ9;F5GYZ5;F5H3C5;F5H4R2;G5E9P6;G8JLJ2;P04179 ABBA01021065;ABBA01021066;AK296809;AK304766;AK313082;AL050388;AL135914;AL691784;AMYH02014870;AY267901;AY280718;AY280719;AY280720;AY280721;BC001980;BC012423;BC016934;BC035422;BG699596;BM994509;BT006967;BU164685;BU741675;CH471051;D83493;DQ003134;L34157;M36693;NG_008729;NM_000636;NM_001024465;NM_001024466;S77127;X07834;X14322;X15132;X59445;X65965;Y00472;Y00985 AAA36622;AAA83933;AAD14248;AAH12423;AAH16934;AAP03428;AAP34407;AAP34408;AAP34409;AAP34410;AAP35613;AAY21807;ABM84678;ABM92204;BAA18955;BAG35908;BAG59382;BAG65521;CAA30687;CAA32502;CAA33228;CAA42066;CAA68533;CAA68791;CAB62521;CAL37714;EAW47629;EAW47630;EAW47631;NP_000627;NP_001019636;NP_001019637;P04179 Hs.487046 1674376;1768571;1776281;2161331;2162818;2218046 D6S1335;D6S1419;RH16462;SHGC-34268;SOD2_3060;STS-W78148 IPO-B;IPOB;MNSOD;MVCD6;Mn-SOD Mn superoxide dismutase;OTTHUMP00000017530;OTTHUMP00000017531;OTTHUMP00000238884;OTTHUMP00000238886;OTTHUMP00000238887;indophenoloxidase B;manganese-containing superoxide dismutase;mangano-superoxide dismutase;superoxide dismutase [Mn], mitochondrial APPROVED protein-coding ENSG00000112096 HGNC:11180 00938 147460;612634 REVIEWED 736515 SOD3 superoxide dismutase 3, extracellular This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the dismutation of two superoxide radicals into hydrogen peroxide and oxygen. The product of this gene is thought to protect the brain, lungs, and other tissues from oxidative stress. The protein is secreted into the extracellular space and forms a glycosylated homotetramer that is anchored to the extracellular matrix (ECM) and cell surfaces through an interaction with heparan sulfate proteoglycan and collagen. A fraction of the protein is cleaved near the C-terminus before secretion to generate circulating tetramers that do not interact with the ECM. [provided by RefSeq, Jul 2008] 4 4 4 p15.2 25246551 25251936 + 24797085 24802467 + 24795463 24800845 + 1581225;1581230;1581232;1581254;1581264;1581265;1581266;1581268;1581270;1581277;1581298;1581299;1580852;1580841;1580853;1581095;1625698;1580863;1579965;1580843;1580845;1580842;2312361;6480464 10811593;10833313;11779401;11880297;12600899;12663605;12815947;12830380;14592844;14662715;15171689;15375030;15778274;15990193;16014615;16100289;16399992;16540901;16840738;16842247;16864745;19470681 10329680;11299047;11861638;12052468;12126755;12475988;12477932;14619883;14704872;14736885;1477980;14975589;15044467;1505778;15166009;15223067;15489334;15528465;15761197;15869407;15899505;16335952;16344560;16467073;16469315;16611809;16792821;16809550;16899934;17023265;17070542;17296902;17601350;17646272;17679946;17717013;17937792;18160848;18165226;18314536;18385137;18599502;18676680;18682580;18703790;18720901;18726685;18948423;18971527;18977241;19016244;19108943;19170196;19200140;19213780;19242068;19289127;19318538;19390575;19423521;19423540;19488773;19495415;19505917;19526392;19533864;19625176;19636420;19692168;19705749;19789190;19811392;19913121;19933216;19948975;20079429;20226522;20237496;20406964;20438785;20452482;20477822;20485444;20514411;20576801;20600835;20628086;20673035;20673868;20800603;20966810;2106874;21077177;21077778;21080077;21351093;21362472;21493784;21554548;21621610;21641397;21781513;21957979;22064654;22132904;22217996;22313459;22432908;2276747;22816678;22836756;22958044;23027624;23160801;23241403;23289810;23318435;23377640;23620962;23977988;23979608;24038157;24146173;24922645;3476950;6541229;7662997;7959763;8034674;8546689;8694786;8864862;8889548 6649 M0R1V4;P08294 ABBA01032684;AC006390;AK313935;AMYH02008904;AMYH02008905;AY787834;BC014418;BI757365;BM677660;CH471069;CR541853;DA668533;J02947;NG_012213;NM_003102;S71544;U10116;XR_427488 AAA62278;AAA66000;AAB31336;AAH14418;AAV40827;ABM83012;ABM86206;BAG36654;CAG46651;EAW92823;NP_003093;P08294 Hs.2420 EC-SOD;MGC20077 OTTHUMP00000158715;extracellular superoxide dismutase;extracellular superoxide dismutase [Cu-Zn];superoxide dismutase 3 APPROVED protein-coding ENSG00000109610 HGNC:11181 01708 185490 REVIEWED 1604395 SORBS3 sorbin and SH3 domain containing 3 This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 8 8 8 p21.3 21370859 21394614 + 22402228 22433008 + 22544783 22575495 + 6480464;8554872 10585480;11481476;12477932;12510380;12657639;12660241;14627618;15174051;15184391;15242778;15302935;15489334;15734736;15784622;16189514;16302969;16374509;16831423;16923119;16964243;17081983;17486060;18662323;19294487;19807924;20205591;20361963;22939629;23824909;24722188;9885244 10174 E5RH58;E5RHI2;E5RHS8;E5RIA0;E5RJP2;E7EQH0;H0YAT3;H0YAU6;H0YAZ3;H0YB51;H0YB85;H0YBA2;H0YBL2;O60504 ABBA01005521;AC037459;AF037261;AF064807;AK301196;AK303950;AMYH02017593;BC004314;BC010146;BC067260;BC091514;BM999851;CF456833;CH471080;CX783871;NG_030586;NM_001018003;NM_005775;XM_005273370;XM_005273371;XM_006716266;XM_006716267;XM_006716268;XM_006716269;XM_006716270;XM_006716271;XR_428299 AAC09244;AAD32304;AAH04314;AAH10146;AAH67260;AAH91514;BAG62776;BAG64877;EAW63673;EAW63674;EAW63675;EAW63676;NP_001018003;NP_005766;O60504;XP_005273427;XP_005273428;XP_006716329;XP_006716330;XP_006716331;XP_006716332;XP_006716333;XP_006716334 Hs.528572 1338138;1671601;1687788;2166813 D8S136;RH41845;RH78782;SHGC-30970 SCAM-1;SCAM1;SH3D4 OTTHUMP00000162521;OTTHUMP00000225098;OTTHUMP00000225099;SH3-containing adapter molecule 1;sorbin and SH3 domain-containing protein 3;vinexin;vinexin beta (SH3-containing adaptor molecule-1) APPROVED protein-coding ENSG00000120896 HGNC:30907 11535 610795 REVIEWED 1314224 SORCS1 sortilin-related VPS10 domain containing receptor 1 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q23-q25 102072553 102663374 - 108333421 108924466 - 106573663 107164708 - 1580863;6480464;8554872 11499680;12477932;12482870;14702039;15164054;16385451;18315530;18519826;18830724;19241460;19875614;19913121;19948975;20379614;20413850;20534741;20574532;20628086;20677014;20881129;21294870;22046233;22353753;23055476;23279143;23472165;23700427;23780848;23934736;24128306 114815 A8K182;B3KVZ0;B3KWN9;E6Y3F9;E6Y3G0;H7C2U3;Q8WY21;X6R7D6 AB209142;ABBA01063060;ABBA01063061;ABBA01063062;AF284756;AK074581;AK123752;AK125464;AK126905;AK289797;AL133395;AL160010;AL356255;AL356308;AL357333;AMYH02023758;AMYH02023759;AMYH02023760;AMYH02023761;AMYH02023762;AMYH02023763;AMYH02023764;AMYH02023765;AMYH02023766;AMYH02023767;AMYH02023768;AW137766;AY099452;AY099453;BC131597;BE019093;CH471066;EU281343;EU281344;NG_029120;NM_001013031;NM_001206569;NM_001206570;NM_001206571;NM_001206572;NM_052918;XM_005269475 AAI31598;AAL56667;AAM43811;AAM43812;ABZ89711;ABZ89712;BAD92379;BAF82486;BAG53952;BAG54201;BAG54391;EAW49583;EAW49584;EAW49585;EAW49586;EAW49587;NP_001013049;NP_001193498;NP_001193499;NP_001193500;NP_001193501;NP_443150;Q8WY21;XP_005269532 Hs.591915 1335247;1336056;1338793;1713873;1719713;1722881;1729676;1736134;1753021;1755231;1756685;1778887;2106629;2136100;2141095;2154905;2171400 A008R15;D10S108;D10S1123;D10S1331E;D10S1395E;D10S1410;D10S1636;D10S1663;D10S175;G60535;RH119367;RH123545;SHGC-142130;SHGC-143767;SHGC-31312;SHGC-77869;SORCS1__5283 FLJ41758;FLJ43475;FLJ44957;hSorCS OTTHUMP00000020446;OTTHUMP00000020447;SORCS receptor 1;VPS10 domain receptor SorCS;VPS10 domain receptor protein SORCS 1;VPS10 domain-containing receptor SorCS1 APPROVED protein-coding ENSG00000108018 HGNC:16697 12098 606283 REVIEWED 7241956 SORCS3-AS1 SORCS3 antisense RNA 1 10 10 10 100165180 100166787 - 106424366 106425974 - 104664608 104666216 - 12477932;14702039 100505890 ABBA01063087;AK097854;AL355350;AMYH02023740;BC042079;BU852305;NR_104028 Hs.348526 1690604 RH93114 uncharacterized protein LOC100505890 ncrna ENSG00000226387 HGNC:45244 VALIDATED 1319118 SON SON DNA binding protein This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 21 21 21 q22.11 20114984 20149446 + 34915344 34949820 + 33543038 33577514 + 1580863;6480464;8554872 10470851;10509013;10830953;10950926;11306577;11707072;11782456;12477932;1424986;1435773;1435774;14637006;14702039;14759258;15231748;15302935;15324660;16110330;16565220;16916647;16964243;17081983;17353931;17568003;18029348;18952841;1944255;19471022;19596686;20053686;20081832;20581448;21139048;21504830;21551269;21890473;21963094;22193954;22234250;22354994;22505724;22586326;22939629;23000965;23084401;23227827;23322776;23383273;23602568;23752268;23891004;24013217;24030980;24457600;24816145;3054499;8031013;8318737 6651 H7C1M2;H7C1S4;H7C257;H7C2G8;J3QSZ5;P18583;Q6ZRV7 AB028942;ABBA01057351;AF139897;AF161428;AF161430;AF380179;AF380180;AF380181;AF380182;AF380183;AF380184;AF435977;AK024752;AK074269;AK091233;AK127947;AK128071;AK307612;AMYH02037740;AP000303;AP000304;AW338543;AY026895;BC002422;BC005337;BC017278;BC029455;BC046101;BC054029;BC066303;BC104656;BF197677;BM998625;BQ221207;CF887020;CF890770;CH471079;DQ102771;EF212261;EF212262;M36428;NM_001291411;NM_001291412;NM_032195;NM_138927;NR_103796;NR_103797;NR_103798;X63071;X63751;X63753;XM_006724043;XM_006724044;XM_006724045;XR_430355 AAA36624;AAD50078;AAF28988;AAF28990;AAH02422;AAH05337;AAH29455;AAI04657;AAK07692;AAL30810;AAL34497;AAL34498;AAL34499;AAL34500;AAL34501;AAL34502;AAZ78117;BAA82971;BAB14985;BAC87202;BAG52313;CAA44793;CAA45282;CAC69885;EAX09814;EAX09815;EAX09816;EAX09817;EAX09818;EAX09819;EAX09820;EAX09821;EAX09822;EAX09823;EAX09824;NP_001278340;NP_001278341;NP_115571;NP_620305;P18583;XP_006724106;XP_006724107;XP_006724108 Hs.517262;Hs.656725 1340572;1650297;1650299;1653026;1663310;1695632;1734322;1743447;1759871;1768996;1798400;1798524;1798972;1799970;1800182;1801434;1801568;1801636;1802902;1803390;1806756;1807550;1808872;1809232;1809308;1809388;1810980;1812360;1812624;1813600;1814610;1814612;1815472;1815956;1816454;1819388;1819570;1820210;1821854;1821934;1822708;1826244;1826954;1830984;1832514;1835694;1838524;1838812;1842646;1845574;1846510;2029322;2029324;2029326;2029328;2029330;2029332;2029334;2029336;2029338;2029340;2029342;2029344;2029346;2029348;2029350;2029352;2029354;2029356;2029358;2029360;2029362;2029364;2029366;2029368;2029370;2029372;2029374;2029376;2029378;2029380;2029382;2029384;2029386;2029388;2029390;2029392;2029394;2029396;2029398;2029400;2029402;2029404;2029406;2029408;2029410;2029412;2029414;2029416;2029418;2029420;2029422;2029424;2029426;2029428;2029430;2029432;2029434;2029436;2029438;2029440;2029442;2029444;2029446;2029448;2029450;2029452;2029454;2029456;2029458;2029460;2029462;2029464;2029466;2029468;2029470;2029472;2029474;2029476;2029478;2029480;2029482;2029484;2029486;2029488;2029490;2029492;2029494;2029496;2029498;2029500;2029502;2029504;2029506;2029508;2029510;2029512;2029514;2029516;2029518;2029520;2029522;2029524;2029526;2029528;2029530;2029532;2029534;2029536;2029538;2029540;2029542;2029544;2029546;2029548;2029550;2029552;2029554;2029556;2029558;2029560;2029562;2029564;2029566;2029568;2029570;2029572;2029574;2029576;2029578;2029580;2029582;2029584;2029586;2029588;2029590;2029592;2029594;2029596;2029598;2029600;2029602;2029604;2029606;2029608;2029610;2029612;2029614;2029616;2029618;2029620;2029622;2029624;2029626;2029628;2029630;2029632;2029634;2101380;2101382;2101384;2101386;2101388;2101390;2101392;2101394;2101396;2101398;2101400;2101402;2101404;2101406;2101408;2101410;2101412;2101414;2101416;2101418;2101420;2101422;2123168;2131720;2132263;2134799;2141405;2150544;2162863;2190917;5017114;5022357;5096793;5112994 D21S1451;D21S1680;D21S1910;D21S1960;ECD00036;ECD00100;ECD00328;ECD00839;ECD00899;ECD00948;ECD01591;ECD01662;ECD01697;ECD01730;ECD02340;ECD02592;ECD04336;ECD04747;ECD05419;ECD05606;ECD05644;ECD05686;ECD06488;ECD07187;ECD07322;ECD07823;ECD08335;ECD08336;ECD08772;ECD09018;ECD09269;ECD10761;ECD10852;ECD11179;ECD12013;ECD12053;ECD12442;ECD14234;ECD14592;ECD16628;ECD17396;ECD19004;ECD20436;ECD20585;ECD22530;ECD24005;ECD24476;G48507;GDB:335409;MARC_11511-11512:1001088403:1;REN85665;REN85666;REN85667;REN85668;REN85669;REN85670;REN85671;REN85672;REN85673;REN85674;REN85675;REN85676;REN85677;REN85678;REN85679;REN85680;REN85681;REN85682;REN85683;REN85684;REN85685;REN85686;REN85687;REN85688;REN85689;REN85690;REN85691;REN85692;REN85693;REN85694;REN85695;REN85696;REN85697;REN85698;REN85699;REN85700;REN85701;REN85702;REN85703;REN85704;REN85705;REN85706;REN85707;REN85708;REN85709;REN85710;REN85711;REN85712;REN85713;REN85714;REN85715;REN85716;REN85717;REN85718;REN85719;REN85720;REN85721;REN85722;REN85723;REN85724;REN85725;REN85726;REN85727;REN85728;REN85729;REN85730;REN85731;REN85732;REN85733;REN85734;REN85735;REN85736;REN85737;REN85738;REN85739;REN85740;REN85741;REN85742;REN85743;REN85744;REN85745;REN85746;REN85747;REN85748;REN85749;REN85750;REN85751;REN85752;REN85753;REN85754;REN85755;REN85756;REN85757;REN85758;REN85759;REN85760;REN85761;REN85762;REN85763;REN85764;REN85765;REN85766;REN85767;REN85768;REN85769;REN85770;REN85771;REN85772;REN85773;REN85774;REN85775;REN85776;REN85777;REN85778;REN85779;REN85780;REN85781;REN85782;REN85783;REN85784;REN85785;REN85786;REN85787;REN85788;REN85789;REN85790;REN85791;REN85792;REN85793;REN85794;REN85795;REN85796;REN85797;REN85798;REN85799;REN85800;REN85801;REN85802;REN85803;REN85804;REN85805;REN85806;REN85807;REN85808;REN85809;REN85810;REN85811;REN85812;REN85813;REN85814;REN85815;REN85816;REN85817;REN85818;REN85819;REN85820;REN85821;REN85822;REN85823;SHGC-170111;SHGC-36101;SHGC-51896;SHGC-52062;SHGC-64033;SHGC-87574;SHGC-87576;SHGC-87592;SHGC-87593;STS-H66858;STS-W78112;stSG607252;stSG607253;stSG607254;stSG607255;stSG607256;stSG607257;stSG607258;stSG607260;stSG607261;stSG607262;stSG607265;stSG607266;stSG607267;stSG607269;stSG607270;stSG607271;stSG607273;stSG607274;stSG607276;stSG607279;stSG607280;stSG607281 BASS1;C21orf50;DBP-5;FLJ21099;FLJ33914;KIAA1019;NREBP;SON3 Bax antagonist selected in Saccharomyces 1;NRE-binding protein;OTTHUMP00000068515;OTTHUMP00000068516;OTTHUMP00000068517;OTTHUMP00000197908;OTTHUMP00000198934;negative regulatory element-binding protein APPROVED protein-coding ENSG00000159140 HGNC:11183 01678 182465 REVIEWED 730855 SOD1 superoxide dismutase 1, soluble The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 18215252 18224561 + 33031935 33041244 + 31659622 31668931 + 737689;1580846;1600704;1600708;1581192;1581207;1581213;1581214;1581216;1581220;1581221;1581222;1581223;1581228;1581229;1581230;1581232;1580863;1580834;1300048;1581209;1580833;2312361;2312367;2303613;2312364;2312362;2312363;2312365;2312366;2317410;1358244;6480464;6484113;6907045;7240710;8655579;8655571;8655573;8655570;8655572;8547534;8554872;8657020;8655616;8655856;8655956;8655979;8655966;8699517;8655939;8655965;8655986;8655606;8655884;8655862;8655859;8655635;8655851;8655638;8655651;8655953;8655661;8158049;8655858;8655610;1581095;8655611;8655636;8655984;8657018;8655885;9479188;8655609;8655873;8657021;8655983;8655989;8655990;8655889;8657017;8657023;8655869;8657026;8655864;8655665;1642027;8655617;8655618;8655607;8655880;8655933;8655955 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5;21210247;21226712;21239495;21252941;21257910;21287393;21325350;21346313;21354101;21388680;21396374;21403029;21413851;21469165;21493711;21506602;21515558;21549128;21549454;21550164;21554318;21574856;21600285;21605634;21620832;21624464;21651514;21655264;21692800;21700707;21700728;21733494;21760539;21780215;21796667;21800301;21816178;21825243;21832997;21839474;21843597;21877919;21887272;21890473;21896300;21908873;21930207;21930926;21940617;21943126;21963083;21963094;21969586;21976959;21986594;22005552;22023190;22036626;22049684;22053931;22081209;22088212;22089180;22094223;22116045;22117694;22171159;22185396;22203790;22210350;22212531;22214312;22219285;22249462;22264771;22292843;22292847;22320662;22332887;22343163;22357533;22390177;22409359;22416121;22424128;22431618;22438926;22448134;22471903;22475618;22492046;22493728;22542526;22542539;22561328;22580443;22589106;22590985;22595939;22595972;22608880;22609817;22613021;22647583;22650006;22651090;22670878;22735487;22761419;22768276;22797053;22804629;22853691;22867017;22869735;22899264;22910911;22939629;22967507;22970972;22972774;22984565;22987392;22993064;22999954;23000965;23026746;23030347;23040663;23076148;23076707;23114721;23118898;23147108;23147503;23178947;23182243;23196439;23264618;23286750;23289810;23291526;23297859;23298163;23303748;23332757;23339308;23414135;23418589;23431152;23431167;23455544;23486940;23489186;23496883;23578819;23580651;23583391;23592792;23597337;23612299;23665075;23720777;23744890;23760509;23765103;23781106;23781296;23784844;23792044;23828685;23831581;23837654;23840839;23853506;23861388;23875973;23889606;23898858;23911407;23919400;23927036;23954173;23969235;24002644;24023695;24026444;24032979;24038157;24040091;24065725;24076220;24094577;24126158;24134191;24140062;24143259;24146173;24155874;24184207;24253732;24256636;24269091;24292713;24312616;24325798;24344300;24359187;24363822;24369116;24448804;24450587;24496176;24501372;24550511;24567322;24591457;24816145;24821155;24918640;24946209;2853161;3160582;3680284;3889846;6096825;6316150;6457647;6577438;6770891;7002610;7172448;7496169;7501156;752535;7643359;7647793;7655468;7655469;7655471;7700376;7755363;7795609;7836951;7870076;7881433;7887412;7911198;7951249;7951252;7980516;7997024;8004110;8069312;8105280;8179602;8298637;8332197;8351519;8528216;8592323;8682505;8900247;8907321;8909456;8938700;8990014;9101297;9131652;9453566;9455977;9539776;9541385;9699963;9718300;9726962;9817920 6647 H7BYH4;P00441;V9HWC9 ABBA01057293;AK312116;AMYH02037716;AP000253;AP000254;AV756797;AY049787;AY450286;AY835629;BC001034;BT006676;CA448539;CH471079;CR450355;CR541742;EF143990;EF151142;EU794661;HH772807;L44139;L44746;L46374;L46375;NG_008689;NM_000454;W17182;X01780;X01781;X01782;X01783;X01784;X02317;X95228 AAB05661;AAB05662;AAB59626;AAB59627;AAC41773;AAH01034;AAL15444;AAP35322;AAR21563;AAV80422;ABL96474;ABL96616;ACJ13715;BAG35052;CAA25915;CAA25916;CAA25917;CAA25918;CAA25919;CAA26182;CAA64520;CAG29351;CAG46542;CBX86766;EAX09889;EAX09890;NP_000445;P00441 Hs.443914 1668164;1679976;1741657;1741791;1741793;1742141;1743843;1744473;1745415;1745419;1745421;1745423;1754525;1791706;1793810;1793812;1794528;1854799;2113698;2125642;2142346;2191579;5020838 A006F27;G20764;G34694;GDB:181632;GDB:185170;GDB:185171;GDB:192323;GDB:374780;GDB:455467;GDB:607616;GDB:607623;GDB:607626;GDB:607629;MARC_26673-26674:1036188363:1;PMC122237P1;PMC291829P1;PMC291829P2;PMC316779P1;RH80185;SHGC-132804;SHGC-6902;SHGC-87564;SOD1 ALS;ALS1;HEL-S-44;IPOA;SOD;hSod1 Cu/Zn superoxide dismutase;OTTHUMP00000107278;OTTHUMP00000107279;SOD, soluble;epididymis secretory protein Li 44;homodimer;indophenoloxidase A;superoxide dismutase;superoxide dismutase 1;superoxide dismutase [Cu-Zn];superoxide dismutase, cystolic APPROVED protein-coding ENSG00000142168 HGNC:11179 00937 105400;147450 REVIEWED 735508 SORD sorbitol dehydrogenase Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010] 15 15 15 q15.3 22206385 22258718 + 45315302 45367287 + 45023104 45075089 + 1601362;1601364;1601360;1300048;1580863;6480464;6907045;8554872 14525943;15064821;15755558 12477932;12595725;12665801;12962626;14702039;14965227;15489334;15862967;16189514;16278369;16344560;17343568;18781797;19056867;19423711;20372835;20628624;21139048;21906983;21963094;21988832;22505724;22863883;22939629;23452182;23850972;24816145;25027693;2691249;2936393;3365415;6177277;6439573;6870831;7601136;7782086;8088829;8487505;8535074;9183016;9880675 6652 H0YKB3;H0YLA4;Q00796 ABBA01039190;AC090888;AC091117;AK090738;AK296574;AK309672;AK312444;AMYH02030350;BC021085;BC025295;BI258813;CH471082;DA530494;DB031906;FJ224316;KC877541;L29008;L29254;NM_003104;NR_034039;U07361;U67243 AAA66064;AAA80565;AAA80566;AAB61898;AAH21085;AAH25295;ABM83695;ABM87015;ACI46008;BAG35352;BAG59194;EAW77284;EAW77285;NP_003095;Q00796 Hs.878 1653116;1653152;1670179;1675455;1736812;2108513;2118789;2174369 D15S1336;D15S800;G15968;RH68832;RH79584;SHGC-17227;SORD_8637;STS-N22765 HEL-S-95n;SORD1 L-iditol 2-dehydrogenase;OTTHUMP00000161939;epididymis secretory sperm binding protein Li 95n APPROVED protein-coding HGNC:11184 01679 182500 VALIDATED 9586258 SORD2P sorbitol dehydrogenase 2, pseudogene 15 15 15 q21.1 22016226 22029846 - 45117697 45139761 - 44825499 44847563 - 18085818;9183016;9880675 653381 ABBA01039193;AC018901;AC120778;AC122108;AMYH02030348;NG_008173 SORD2 pseudo HGNC:49919 INFERRED 1322178 SORCS3 sortilin-related VPS10 domain containing receptor 3 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. [provided by RefSeq, Jul 2008] 10 10 10 q23-q25 100141671 100765737 + 106400859 107024993 + 104641101 105265235 + 1580863;6480464;8554872 10470851;11499680;12477932;15164054;15710408;16385451;20379614;22939629;24250222 22986 B7Z891;Q5CAJ2;Q9UPU3 AB028982;ABBA01063082;ABBA01063083;ABBA01063084;ABBA01063085;ABBA01063086;ABBA01063087;AK303009;AL161646;AL353900;AL355350;AL358949;AL365449;AL445492;AL589942;AL596118;AMYH02023739;AMYH02023740;AMYH02023741;AMYH02023742;AMYH02023743;AMYH02023744;BC045754;BC117417;CH471066;HC007286;NM_014978 AAH45754;AAI17418;BAA83011;BAH13877;CBH19448;EAW49589;EAW49590;NP_055793;Q9UPU3 Hs.671950 1336930;1337532;1339974;1664210;1690604;1721005;1724461;1731036;1731054;1758063;1761833;1761937;1781902;1782170;2125138;2149400 D10S1264;D10S1671;D10S20;D10S2212;D10S2469;D10S266;D10S467;G59484;RH122394;RH93114;SHGC-106916;SHGC-145786;SHGC-145871;SHGC-147240;SHGC-155953;WI-11152 RP11-107L7.1;SORCS 6330404A12Rik;OTTHUMP00000020444;VPS10 domain receptor protein SORCS 3 (SORCS3);VPS10 domain-containing receptor SorCS3 APPROVED protein-coding ENSG00000156395 HGNC:16699 12100 606285 REVIEWED 5132539 SOS1-IT1 SOS1 intronic transcript 1 (non-protein coding) 2 2 p21 39060148 39061160 - 39219420 39220432 - 100505911 AA284396;BI861294;XR_109972;XR_112310 Hs.712612 1691282 RH98865 ncrna HGNC:41385 1321631 SORCS2 sortilin-related VPS10 domain containing receptor 2 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 7098892 7646499 + 7194374 7744564 + 7192647 7742837 + 1580863;6480464;8554872 10718198;11499680;12477932;16344560;19308021;19328558;19851296;20080650;20198315;20379614;21216879;23251661;23870195 57537 B5MED8;H0Y9I2;Q96PQ0 AB037750;ABBA01012743;ABBA01012744;ABBA01012745;ABBA01012746;ABBA01012747;ABBA01012748;ABBA01012749;ABBA01012750;ABBA01012751;ABBA01012752;ABBA01012753;ABBA01012754;ABBA01012755;AC004169;AC080003;AC097382;AC112710;AC116316;AF286190;AI206155;AK295629;AMYH02008681;AMYH02008682;AMYH02008683;AMYH02008684;AMYH02008685;AMYH02008686;AMYH02008687;BC035257;CH471131;DA215907;FJ695208;NM_020777;R37251;XM_005247987 AAI56054;AAI56940;AAL04014;BAA92567;BAG58506;EAW82363;EAW82364;NP_065828;Q96PQ0;XP_005248044 Hs.479099 1644388;1646242;1650385;1652769;1656505;1661954;1672347;1694842;1696402;1712867;1760861;1762753;1787668;1851001;1851911;2110171;2114963;2116227;2124937;2132243;2137511;2141853;2143958;2155302;2162885;2164142;2164348;2166269;2178234;2179296;2189083;2189093;2189113;2189125;2189257;2189259 AL008659;D4S1115;D4S1128;D4S1269;D4S495;D4S538;D4S545;D4S547;D4S611;D4S849;D4S853;G01810;G16730;G16741;G33989;G43673;G65089;G65090;G65143;G65163;G65189;G65191;RH120150;SHGC-144535;SHGC-146538;SHGC-156150;SHGC-24198;SHGC-25091;SHGC-25103;SHGC-50797;SHGC-50999;SHGC-59761;SHGC-59838;SHGC-83322;WI-9347;st526h22-8e5 OTTHUMP00000217248;VPS10 domain receptor protein;VPS10 domain-containing receptor SorCS2 APPROVED protein-coding ENSG00000184985 HGNC:16698 12099 606284 REVIEWED 1346295 SOS2 son of sevenless homolog 2 (Drosophila) ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); Rho guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN apoptotic signaling pathway (inferred); axon guidance (inferred); neurotrophin TRK receptor signaling pathway (inferred); PARTICIPATES IN insulin signaling pathway; acute myeloid leukemia pathway; B cell receptor signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsane; arsenic atom 14 14 14 q21 30450982 30565239 - 50583846 50698596 - 50117128 50231381 - 1580863;1299201;2317988;5686834;6480464;6907045;8554872 12891559;16829981;22029668 10675333;10820259;10938118;10940929;11003655;11756498;12097864;12376548;12477932;12628188;12787561;14551139;14679214;15173068;17143285;17440948;17474147;18271526;19289468;19380743;19531499;19911011;20467438;20618341;20697350;20936779;21706016;21988832;22558309;23761422;23956138;24250222;24347629;24797263;7629138;8276400;8493579;8943292;9067577;9182529;9372945 6655 G3V5W3;Q07890 AB209277;ABBA01018131;AI419975;AK295868;AK302825;AK308978;AK309123;AL109758;AMYH02029164;AMYH02029165;AMYH02029166;BC117261;BC143366;BC143367;CH471078;L13858;L20686;NM_006939;XM_005268021 AAA35914;AAA91852;AAI17262;AAI43367;AAI43368;ADR83296;BAD92514;BAG58667;BAG64022;EAW65727;EAW65728;NP_008870;Q07890;XP_005268078 Hs.291533 1670986;1731609;1777325;1847633;1852325;2121088;2166455 D13S1686;D14S166;D14S945;G35441;G35626;G35790;WI-16425 FLJ25596;SOS-2 OTTHUMP00000178975;OTTHUMP00000244573;guanine nucleotide exchange factor;guanine nucleotide releasing factor;son of sevenless homolog 2 protein-coding ENSG00000100485 HGNC:11188 03149 601247 VALIDATED 732975 SORBS2 sorbin and SH3 domain containing 2 Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 4 4 4 q35.1 183831196 184201888 - 186506598 186877870 - 185585444 185956716 - 6480464;8554872 10521485;11076863;11230166;11292345;11481476;11752456;12023963;12421765;12475393;12477932;12510380;14702039;15128873;15146197;15161933;15302935;15489336;15778465;15784622;15949647;16125169;16169070;16189514;16344560;16374509;16381901;18559503;18985028;19240061;19631450;20029029;20379614;20886612;21602178;21689717;21900206;21988832;22394629;22431180;22589738;23824909;24165198;24255178;24342996;24457600;24475245;8125298;8889549;9211900;9872452 8470 B7Z3D7;B7Z997;C9IZ89;C9IZT7;C9J348;C9J372;C9J3W4;C9J4K2;C9J4Z9;C9J620;C9J7Q5;C9J8E3;C9J9D3;C9JBB0;C9JBR8;C9JC90;C9JDX2;C9JEA9;C9JFS9;C9JG84;C9JI79;C9JL62;C9JLD6;C9JM25;C9JN77;C9JWC3;C9JZ60;H7BXR3;H7BZK1;H7BZX1;H7C1R7;O94875 AA114994;AB018320;ABBA01070537;ABBA01070538;ABBA01070539;ABBA01070540;ABBA01070541;ABBA01070542;AC093797;AC096659;AC104805;AC108472;AF049884;AF049885;AF090937;AK056628;AK056758;AK225327;AK225812;AK293400;AK295742;AK296461;AK304653;AK312986;AL134289;AL527982;AMYH02010666;AMYH02010667;AU142147;AV658263;BC011883;BC035329;BC069025;BC122526;CB988614;CH471056;CN340607;DA105517;DA119376;DA139168;DA398113;DA836871;DC421607;NG_029709;NM_001145670;NM_001145671;NM_001145672;NM_001145673;NM_001145674;NM_001145675;NM_001270771;NM_003603;NM_021069;XM_005263302;XM_005263305;XM_005263306;XM_005263307;XM_005263308;XM_005263310;XM_005263311;XM_005263312;XM_005263313;XM_006714345;XM_006714346;XM_006714347;XM_006714348;XM_006714349;XM_006714350;XM_006714351;XM_006714352;XM_006714353;XM_006714354;XM_006714355;XM_006714356;XM_006714357;XM_006714358;XM_006714359;XM_006714360;XM_006714361;XM_006714362;XM_006714363;XM_006714364;XM_006714365;XM_006714366;XM_006714367;XM_006714368;XM_006714369;XM_006714370;XM_006714371;XM_006714372;XM_006714373;XM_006714374;XM_006714375;XM_006714376;XM_006714377;XM_006714378;XM_006714379;XM_006714380;XM_006714381;XM_006714382;XM_006714383;XM_006714384;XM_006714385;XM_006714386;XM_006714387;XM_006714388;XM_006714389;XM_006714390 AAC05508;AAC05509;AAF24049;AAH11883;ACE87043;ACE87726;BAA34497;BAG35823;BAG51769;BAG51806;BAH11501;BAH12173;BAH12362;BAH14233;CAL37436;CAL37496;CAL37534;CAL37644;CAL37671;CAL37728;CAL37733;CAL37767;CAL37811;CAL37863;CAL37890;CAL37892;CAL37912;CAL37932;CAL37934;CAL38005;CAL38050;CAL38068;CAL38099;CAL38145;CAL38245;CAL38378;CAL38512;CAL38526;CAL38569;CAL38582;CAL38709;EAX04630;EAX04631;EAX04632;EAX04633;EAX04634;EAX04635;EAX04636;EAX04637;NP_001139142;NP_001139143;NP_001139144;NP_001139145;NP_001139146;NP_001139147;NP_001257700;NP_003594;NP_066547;O94875;XP_005263359;XP_005263362;XP_005263363;XP_005263364;XP_005263365;XP_005263367;XP_005263368;XP_005263369;XP_005263370;XP_006714408;XP_006714409;XP_006714410;XP_006714411;XP_006714412;XP_006714413;XP_006714414;XP_006714415;XP_006714416;XP_006714417;XP_006714418;XP_006714419;XP_006714420;XP_006714421;XP_006714422;XP_006714423;XP_006714424;XP_006714425;XP_006714426;XP_006714427;XP_006714428;XP_006714429;XP_006714430;XP_006714431;XP_006714432;XP_006714433;XP_006714434;XP_006714435;XP_006714436;XP_006714437;XP_006714438;XP_006714439;XP_006714440;XP_006714441;XP_006714442;XP_006714443;XP_006714444;XP_006714445;XP_006714446;XP_006714447;XP_006714448;XP_006714449;XP_006714450;XP_006714451;XP_006714452;XP_006714453 Hs.619806;Hs.655143 1649409;1649494;1649904;1659825;1670443;1689416;1693666;1706048;1710242;1747877;1749853;1766525;1769474;1772008;1774391;1776036;1777804;1785148;1785156;1787526;1851594;1852476;1853220;1857014;2134795;2143584;2149453;2160793;2173887;2174398;2179498;2181805;2183919;2186128;5022200;5022450;5022578;5037552;5126723 D10S275;D1S1423;D4S1164;D4S2454;D4S2537E;D4S2823;D4S3262;D4S3275;D4S546;D4S910;D8S2279;G41986;G41989;G66867;L18426;RH70382;RH91813;SHGC-111587;SHGC-149842;SHGC-155588;SHGC-155765;SHGC-156018;SHGC-31331;SHGC-33691;SHGC-51428;SHGC-58594;SHGC-59366;SHGC-67241;SHGC-67644;SHGC-67656;SHGC-67667;SHGC-67703;SHGC-67724;SHGC-67725;SHGC-67746;SHGC-67978;SHGC-80058;SHGC-85211;WI-20258 ARGBP2;FLJ93447;KIAA0777;PRO0618 Arg binding protein 2;Arg/Abl interacting protein;Arg/Abl-interacting protein 2;OTTHUMP00000211722;OTTHUMP00000211723;OTTHUMP00000211724;OTTHUMP00000211725;OTTHUMP00000211726;OTTHUMP00000211727;OTTHUMP00000211728;arg/abl-interacting protein argbp2;sorbin and SH3 domain-containing protein 2 APPROVED protein-coding ENSG00000154556 HGNC:24098 12473 REVIEWED 737334 SOST sclerostin Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 38539106 38544164 - 41831099 41836156 - 43753731 43758788 - 68858;1580863;6480464;7240710;7365107;8554872;8699517 11179006;23085770 11181578;11836356;12116252;12398949;12477932;12975309;14633986;14739291;15024046;15199066;15340161;15454089;15489334;15514891;15545262;15908424;16123173;16189254;17002572;17052975;17185822;17696759;18292354;18931653;19072561;19075223;19079262;19208630;19371798;19453261;19778325;19857121;19877044;19898734;19936252;20043874;20156921;20200987;20301406;20305005;20336693;20359476;20499362;20534768;20554715;20583295;20721932;20817762;20951118;20952383;21153337;21164019;21221996;21312267;21347301;21351148;21441835;21471202;21566129;21613383;21667439;21723865;21786318;21812027;21890009;21937621;21944579;21991382;21994959;22006831;22031520;22032557;22032690;22075208;22076526;22082361;22151063;22162201;22206666;22353552;22364398;22399511;22466341;22475109;22504420;22508529;22527202;22575440;22579776;22581647;22696217;22723594;22728230;22767636;22801952;22836717;22844062;22855334;22865898;23041840;23079137;23221033;23233270;23288857;23296214;23360788;23362266;23389587;23408601;23430206;23445914;23467116;23505206;23509994;23525828;23579340;23702386;23737439;23788689;23836157;23864703;23894157;24037879;24074614;24151757;24170101;24178795;24184155;24184314;24187403;24203063;24227537;24248178;24296448;24423318;24471564;24512494;24667598;24780728;24891138 50964 Q7Z4G0;Q9BQB4 ABBA01028400;AC055813;AF170491;AF184211;AF326736;AF326739;AF331844;AMYH02033463;AY358203;AY358627;BC101086;BC101087;BC101088;BC101089;CH471178;CQ986736;JC739558;NG_008078;NM_025237 AAI01087;AAI01088;AAI01089;AAI01090;AAK13451;AAK13454;AAK16158;AAQ13601;AAQ13694;AAQ88570;AAQ88990;CAI46877;CEF39438;EAW51669;NP_079513;Q9BQB4 Hs.349204 2109877 SOST_9655 CDD;SOST1;VBCH APPROVED protein-coding ENSG00000167941 HGNC:13771 05762 122860;239100;269500;605740 REVIEWED 1602435 SOWAHA sosondowah ankyrin repeat domain family member A INTERACTS WITH 17beta-estradiol; 3,4-dichloroaniline; aflatoxin B1 5 5 5 q31.1 128279047 128282503 + 132149033 132152489 + 132813341 132816797 + 6480464 12477932;14702039;15489334;18187620;22234889 134548 Q2M3V2 ABBA01068799;AC004775;AK090823;AK092782;AMYH02012220;AW450551;BC104771;BC104775;BF437580;BF967159;BM967275;CH471062;DB481577;DN949321;KC877113;NM_175873 AAI04772;AAI04776;BAC03975;EAW62313;EAW62314;NP_787069;Q2M3V2 Hs.13308 1780508;1803700;1815946;1822868;1824626;1839578;1852934;2001740;2001742;2001744;2001746;2001748;2001750;2001752;2001754;2001756;2001758;2001760;2001762;2001764;2001766;2001768;2001770;2001772;2001774;2001776;2001778;2001780;2001782;2001784;2001786;2096504;2096506;5493307 ECD02756;ECD09013;ECD12522;ECD13411;ECD20972;REN71782;REN71783;REN71784;REN71785;REN71786;REN71787;REN71788;REN71789;REN71790;REN71791;REN71792;REN71793;REN71794;REN71795;REN71796;REN71797;REN71798;REN71799;REN71800;REN71801;REN71802;REN71803;REN71804;REN71805;STS-N49602;UniSTS:485664;bac5077S;stSG601540;stSG601543 ANKRD43 OTTHUMP00000066214;ankyrin repeat domain 43;ankyrin repeat domain-containing protein 43;ankyrin repeat domain-containing protein SOWAHA;protein sosondowah homolog A APPROVED protein-coding ENSG00000198944 HGNC:27033 14059 VALIDATED 1605533 SOWAHB sosondowah ankyrin repeat domain family member B ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cadmium dichloride; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 4 4 4 q21.1 75117434 75120354 - 77816082 77819002 - 76894929 76897849 - 6480464;8554872 12477932;22234889 345079 A6NEL2 ABBA01063367;AC104687;AMYH02009521;BC137241;BC137255;NM_001029870 A6NEL2;AAI37242;AAI37256;NP_001025041 Hs.257292 ANKRD56 OTTHUMP00000219201;ankyrin repeat domain 56;ankyrin repeat domain-containing protein 56;ankyrin repeat domain-containing protein SOWAHB;protein sosondowah homolog B APPROVED protein-coding ENSG00000186212 HGNC:32958 18789 PROVISIONAL 1320080 SORBS1 sorbin and SH3 domain containing 1 This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 10 10 10 q23.33 90812720 91062378 - 97071530 97321171 - 95311773 95561414 - 1580863;1642731;1642744;6480464;6484113;6907045;8554872 11532984;17351624 10085297;10583506;10718198;11001060;11076863;11230166;11371513;11374898;11481476;11557983;11997497;12079283;12395215;12421765;12477932;12504111;12510380;12650714;12690089;12765336;12849814;14627618;14702039;15031295;15128873;15489334;15489336;15716063;15777793;15939299;16374509;16381901;16385451;17082770;17353931;17462669;17548467;18029348;18394047;18660489;19165527;19282865;19891780;20129698;20201926;20379614;20936779;21041247;21988832;22094256;22235335;22745667;23251661;23382691;23793025;23892081;24255178;9447983;9461600 10580 B4DTX5;Q5T925;Q9BX66;S4R303;S4R406 AB037717;ABBA01021836;ABBA01021837;ABBA01021838;AF136380;AF136381;AF330623;AF330624;AF356525;AF356526;AF356527;AJ489942;AK022468;AK294924;AK300407;AK304130;AK304753;AL117472;AL122082;AL157890;AL707894;AL832353;AM260536;AMYH02023580;AMYH02023581;AMYH02023582;BC042612;BC152463;BX640814;CH471066;DC334283;NG_034041;NM_001034954;NM_001034955;NM_001034956;NM_001034957;NM_001290294;NM_001290295;NM_001290296;NM_001290297;NM_001290298;NM_006434;NM_015385;NM_024991;U70668;XM_005269404;XM_005269405;XM_005269406;XM_005269411;XM_005269412;XM_005269414;XM_005269424;XM_005269425;XM_005269427;XM_005269431;XM_005269437;XM_005269439;XM_005269440;XM_006717560;XM_006717561;XM_006717562;XM_006717563;XM_006717564;XM_006717565;XM_006717566;XM_006717567;XM_006717568;XM_006717569;XM_006717570;XM_006717571;XM_006717572;XM_006717573;XM_006717574;XM_006717575;XM_006717576;XM_006717577;XM_006717578;XM_006717579;XM_006717580;XM_006717581;XM_006717582;XM_006717583;XM_006717584;XM_006717585;XM_006717586;XM_006717587;XM_006717588;XM_006717589;XM_006717590;XM_006717591;XM_006717592;XM_006717593;XM_006717594;XM_006717595 AAB93496;AAD27647;AAF22175;AAH42612;AAI52464;AAI60134;AAK37563;AAK37564;AAK37565;AAK57479;AAK57480;BAA92534;BAG58006;BAG62137;BAG65026;BAH14253;CAB55947;CAD34588;CAE45892;CAJ97431;CAL37960;EAW49998;EAW49999;EAW50000;EAW50001;EAW50002;EAW50003;EAW50004;EAW50005;EAW50006;EAW50007;EAW50008;NP_001030126;NP_001030127;NP_001030128;NP_001030129;NP_001277223;NP_001277224;NP_001277225;NP_001277226;NP_001277227;NP_006425;NP_056200;NP_079267;Q9BX66;XP_005269461;XP_005269462;XP_005269463;XP_005269468;XP_005269469;XP_005269471;XP_005269481;XP_005269482;XP_005269484;XP_005269488;XP_005269494;XP_005269496;XP_005269497;XP_006717623;XP_006717624;XP_006717625;XP_006717626;XP_006717627;XP_006717628;XP_006717629;XP_006717630;XP_006717631;XP_006717632;XP_006717633;XP_006717634;XP_006717635;XP_006717636;XP_006717637;XP_006717638;XP_006717639;XP_006717640;XP_006717641;XP_006717642;XP_006717643;XP_006717644;XP_006717645;XP_006717646;XP_006717647;XP_006717648;XP_006717649;XP_006717650;XP_006717651;XP_006717652;XP_006717653;XP_006717654;XP_006717655;XP_006717656;XP_006717657;XP_006717658 Hs.38621 1340464;1679838;1683503;1709464;1713587;1736152;1762681;1767571;1767829;1780248;1782152;1782198;1789106;1857849;2118729;2139665;2145084;2183109;5015169;5015810;5094834;5122183;7185687 D10S1403E;D10S571;G65687;GDB:182516;RH120290;RH66455;RH68872;RH70787;RH80133;RH92581;SHGC-146474;SHGC-154707;SHGC-155500;SHGC-155501;SHGC-156237;SHGC-31032;SHGC-56758;SHGC-81783;SORBS1;STS-W86789;WI-18250;WI-22239 CAP;DKFZp451C066;DKFZp586P1422;FLAF2;FLJ12406;KIAA1296;R85FL;SH3D5;SH3P12;SORB1 Fas-ligand associated factor 2;OTTHUMP00000020139;OTTHUMP00000020140;OTTHUMP00000020142;OTTHUMP00000020143;OTTHUMP00000020144;OTTHUMP00000020145;OTTHUMP00000020146;OTTHUMP00000020147;SH3 domain protein 5;SH3-domain protein 5 (ponsin);c-Cbl associated protein;c-Cbl-associated protein;ponsin;sorbin and SH3 domain-containing protein 1 protein-coding ENSG00000095637 HGNC:14565 05587 605264 REVIEWED 1322123 SORL1 sortilin-related receptor, L(DLR class) A repeats containing This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded protein is translated as a preproprotein and likely plays roles in endocytosis and sorting. There may be an association between expression of this locus and Alzheimer's Disease.[provided by RefSeq, Sep 2010] 11 11 11 q23.2-q24.2 118482367 118662804 + 121322912 121504471 + 121452203 121633762 + 1581303;1580863;6480464;7240710;8554872 15313836 10375696;11294867;11557679;11821067;12477932;12530537;12970790;14702039;14764453;16174740;16344560;16407538;16489755;16531402;16565469;17110338;17220890;17326667;17420311;17589324;17721864;17826910;17855360;17949987;17975299;17978276;18063222;18090307;18093545;18407551;18541377;18562096;18603531;18685254;18713574;18830724;18938222;19056867;19064752;19077115;19364927;19368828;19539718;19584446;19653016;19822782;19889229;19889475;19913121;20015111;20047743;20301340;20379614;20413850;20534741;20574532;20625269;20628086;20634593;20667857;20689279;20838585;20880607;20946940;20970138;21145461;21147781;21185108;21206043;21220680;21385844;21730226;21989385;21994944;21997402;22044026;22127416;22268729;22279231;22286501;22297619;22321011;22472873;22621900;22750733;22836009;22927900;22996644;23127357;23443559;23455993;23463934;23486467;23525328;23565137;23602568;23652469;23813966;23948893;24001769;24162737;24309291;24577511;24650663;24778252;8619474;8940146;9157966 6653 E9PKB0;E9PP43;E9PPB3;E9PS32;Q92673 ABBA01031302;ABBA01031303;ABBA01031304;AI358248;AK025583;AK096577;AK294404;AK295090;AK295878;AK302589;AK309523;AK316340;AMYH02025687;AP000664;AP000977;BC032903;BC040643;BC137171;BQ888333;BX365721;CH471065;DA386525;DB499706;DN831521;KF459541;NG_023313;NM_003105;U90916;Y08110 AAI37172;BAG57656;BAG58131;BAG58675;BAG63842;BAH14711;CAA69325;EAW67524;EAW67525;EAW67526;EAW67527;NP_003096;Q92673 Hs.368592 1645338;1647610;1647612;1705366;1715235;1724405;1751635;1756129;1769133;1856938;2118332;2135685;2156413;2166632;5491465 A001V33;D11S2303E;G19692;MARC_13961-13962:1007650350:1;RH11765;RH119868;RH122364;RH12302;RH12473;RH45842;SHGC-105603;SHGC-142924;SHGC-53425;SHGC-83535;T15980 C11orf32;FLJ21930;FLJ39258;LR11;LRP9;SorLA-1;gp250 LDLR relative with 11 ligand-binding repeats;OTTHUMP00000231797;SORLA;low-density lipoprotein receptor relative with 11 ligand-binding repeats;mosaic protein LR11;sortilin-related receptor;sortilin-related receptor containing LDLR class A repeats;sortilin-related receptor, L(DLR class) A repeats-containing;sorting protein-related receptor containing LDLR class A repeats APPROVED protein-coding ENSG00000137642 HGNC:11185 03595 104300;602005 REVIEWED 1349983 SOWAHC sosondowah ankyrin repeat domain family member C INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 q13 104540692 104545345 + 110371911 110376564 + 109614334 109618987 + 6480464 12477932;14702039;15489334;15815621;16964243;18781797;20211142;21906983;22234889;22990118;24654937 65124 Q53LP3 ABBA01008998;AC011753;AC140485;AK023346;AK025523;AMYH02004520;BC036652;BC066772;CH471182;NM_023016 AAH36652;AAY24143;AAY24292;BAB15161;EAW53857;NP_075392;Q53LP3 Hs.355455 1648570;1671814;1856775;2184920;5018953;5022200;5093338;5093534 A009L36;A009Q19;G32660;G32775;G42236;L18426;RH17449;SHGC-34236 ANKRD57;C2orf26 OTTHUMP00000203405;ankyrin repeat domain 57;ankyrin repeat domain-containing protein 57;ankyrin repeat domain-containing protein SOWAHC;chromosome 2 open reading frame 26;protein sosondowah homolog C APPROVED protein-coding ENSG00000198142 HGNC:26149 08643 VALIDATED 1606099 SOWAHD sosondowah ankyrin repeat domain family member D X X X q24 119347218 119348807 + 118892576 118894165 + 119758613 119760202 + 15772651;22234889 347454 A6NJG2 ABBA01036634;AC005052;AMYH02040344;CD368490;NM_001105576 A6NJG2;NP_001099046 Hs.355223 ANKRD58 OTTHUMP00000215979;ankyrin repeat domain 58;ankyrin repeat domain-containing protein 58;ankyrin repeat domain-containing protein SOWAHD;protein sosondowah homolog D APPROVED protein-coding ENSG00000187808 HGNC:32960 VALIDATED 1348976 SOX1 SRY (sex determining region Y)-box 1 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008] 13 13 13 q34 93573584 93577691 + 112721913 112726020 + 112067599 112071706 + 1580863;6480464 10729834;11071752;12100890;12194848;15110721;18032743;19061938;19667272;20515335;20634891;20844123;22767186;22860217;23215838;23278580;23927962;23994634;9337405;9512512 6656 O00570 ABBA01019839;ABBA01019840;AL138691;AMYH02028726;CH471085;NM_005986;Y13436 CAA73847;EAX09158;NP_005977;O00570 Hs.202526 1661035;1701580;1773273;1793892;5024901 D13S1177;PMC304098P3;RH104424;Sox1;WI-13756 OTTHUMP00000038925;SRY-related HMG-box gene 1;transcription factor SOX-1 APPROVED protein-coding HGNC:11189 03687 602148 REVIEWED 731682 SORT1 sortilin 1 This gene encodes a protein that is a multi-ligand type-1 receptor with similarity to the yeast carboxypeptidase Y sorting receptor Vps10 protein. The encoded protein, a trans-Golgi network (TGN) transmembrane protein, binds a number of unrelated ligands that participate in a wide range of cellular processes; however, it lacks the typical features of a signalling receptor. In the TGN, furin mediates the activation of the mature binding form. The encoded protein consists of a large luminal domain, a single transmembrane segment and short C-terminal cytoplasmic tail. The luminal domain contains a cysteine-rich region similar to two corresponding segments in the yeast Vps10p; the cytoplasmic tail is similar to the corresponding segment of the cation-independent mannose 6-phosphate receptor and the tail also interacts with the VHS domains of GGA (Golgi-associated, gamma-adaptin homologous, ARF-interacting) proteins. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108121561 108209921 - 109852187 109940563 - 109309565 109397941 - 1580863;6480464;6907045 10085125;10390649;11257441;11331584;11390366;11499680;11821067;11859376;12209882;12360476;12419319;12477932;12482870;12598608;14657016;14702039;14985763;15313463;15364913;15489334;15930396;15987945;15992544;16087676;16263699;16344560;16710414;17220298;17353931;18029348;18088323;18191449;18193043;18193044;18258592;18603531;18624930;18713973;19060906;19060910;19148283;19198609;19219422;19299407;19322201;19487539;19837406;19875813;20015111;20031591;20036257;20048080;20085800;20159974;20167577;20339536;20383146;20570916;20584990;20613775;20628624;20679960;20686565;20686566;20738937;20816088;20971364;21087763;21139048;21245145;21261755;21378988;21378990;21466885;21521695;21730062;21909109;21963094;21966426;22128158;22256600;22297619;22361451;22418572;22751103;22768187;22884962;23102784;23118302;23236149;23283322;23318115;23438231;23485461;23535823;23660633;23704887;23895422;24097068;24128306;24262325;24404198;25036637;9013611;9305862;9657377;9756851;9927419 6272 Q99523 AA782785;ABBA01068377;AI623426;AI695671;AK000757;AK023648;AK129918;AK130545;AK293118;AK301548;AK310147;AL117561;AL390252;AMYH02001709;AMYH02001710;AMYH02001711;AU132384;BC023542;BC041982;BC053575;BF591118;BQ001031;BQ774407;BX955818;CB267773;CH471122;DA023768;DB045034;FJ525881;JA738725;NG_028280;NM_001205228;NM_002959;XM_005271100;XM_005271101;XM_005271102;XM_006710812 AAH23542;ABM87792;ACN81319;BAF85807;BAG63045;CCF77015;EAW56380;NP_001192157;NP_002950;Q99523;XP_005271157;XP_005271158;XP_005271159;XP_006710875 Hs.485195;Hs.703487 1693128;1771281;2108515;2158660;2164449;2182438;5016478 AL034289;GDB:434012;SHGC-75262;SHGC-75268;SHGC-75270;SORT1_8606;WI-14018 Gp95;LDLCQ6;NT3;NTR3 100 kDa NT receptor;OTTHUMP00000013784;glycoprotein 95;neurotensin receptor 3;sortilin APPROVED protein-coding ENSG00000134243 HGNC:11186 03910 602458;613589 REVIEWED 1343094 SOSTDC1 sclerostin domain containing 1 This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008] 7 7 7 p21.1 16480854 16485222 - 16501106 16505562 - 16461481 16465849 - 6480464;6484113;7365107;8554872 23085770 12477932;12690205;12853948;14623234;14702039;15020244;15280373;15489334;15951218;17207965;18032587;19760604;20339536;21080955;21113658;21221677;23830730;24190897 25928 A4D125;Q6X4U4 AB059270;ABBA01056629;AC079155;AF361494;AI540640;AI927000;AK093408;AK315682;AL050024;AMYH02015304;AY255634;BC008484;CH236948;CH471073;NM_015464 AAH08484;AAL57219;AAQ83296;AAQ96855;ADQ32508;BAC20331;BAG38047;BAG52710;CAB43243;EAL24287;EAW93669;NP_056279;Q6X4U4 Hs.648106 2110843;2133902;5094875 A008L20;SOSTDC1;UniSTS:471847 CDA019;DKFZp564D206;USAG1 ECTODIN;OTTHUMP00000116021;cystine-knot containing secreted protein;ectodermal BMP inhibitor;sclerostin domain-containing protein 1;uterine sensitization-associated protein-1 APPROVED protein-coding ENSG00000171243 HGNC:21748 15417 609675 REVIEWED 1322140 SOS1 son of sevenless homolog 1 (Drosophila) This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008] 2 2 2 p21 39049411 39188687 - 39208690 39347686 - 38981549 39120543 - 1580011;1580863;1581104;1581110;1299201;2317988;5686834;6480464;6484113;6907045;7240710;8554872;8699517 11868160;12891559;15728722;16829981;22029668;8577724 10025673;10026169;10206341;10207103;10319320;10477741;10499589;10507724;10570290;10675333;10706702;10716926;10783152;10913276;10940929;10943841;10995566;11071869;11173924;11278868;11352907;11520933;11560919;11560935;11707404;11756498;11956071;11960376;11964172;11997436;12029088;12099688;12147692;12223473;12376548;12486104;12628188;12787561;14551916;14565974;14656442;14679214;15010862;15173068;15302935;15507210;15824104;16159877;16274251;16760435;16893902;16906159;17043677;17062749;17075039;17143282;17143285;17283063;17315019;17389601;17437339;17474147;17486115;17510059;17548467;17586837;18064648;18271526;18454158;18539136;18651097;18660489;18778683;18972187;19020799;19077116;19133693;19206169;19289468;19352411;19380743;19438935;19464300;19531499;19724911;19911011;19913121;19953625;20005866;20030748;20133692;20133694;20186801;20301303;20302979;20305546;20379614;20389169;20467438;20543023;20607846;20628086;20673819;20683980;20697350;20724475;20936779;20950586;21048031;21387466;21666788;21674833;21706016;21746917;21851854;21988832;22042618;22217993;22344067;22360309;22396725;22558309;23132018;23334917;23528009;23528987;23589333;23817964;23956138;24250222;24497027;24797263;7510700;7514169;7520523;7529874;7544443;7629168;7664271;7739560;7862111;8112292;8188688;8276400;8479541;8493579;8631299;8632004;8647802;8695800;8810325;8816480;8943292;8950973;9009162;9162067;9182529;9182757;9344843;9374522;9374537;9447973;9480847;9529355;9544989;9632781;9651378;9660480;9690470;9716598;9790532;9856337;9872323 6654 C9K0N6;G5E9C8;Q07889 AB209140;ABBA01075022;ABBA01075023;ABBA01075024;ABBA01075025;AC019171;AC092672;AF106953;AF441482;AK290228;AK301960;AL833457;AMYH02003635;AMYH02003636;AMYH02003637;AV702692;CH471053;HI376402;L13857;NG_007530;NM_005633;XM_005264515 AAA35913;AAF04460;AAI40216;AAM22406;AAX93186;AAY24202;BAD92377;BAF82917;BAG63374;CBX55730;EAX00350;EAX00351;EAX00352;EAX00353;NP_005624;Q07889;XP_005264572 Hs.709893;Hs.732497 1298195;1338062;1338122;1338864;1341743;1357238;1644526;1645756;1656949;1685373;1691282;1745957;1792624;1852037;2111017;2128673;2139992;2140570;2147145;2150415;2152530;2162194;2169674;2174237;2176099;5093904;5094012;5109601;7183811 A009Y37;A010A36;AI449023;D2S119;D2S1346;D2S1348;D2S1356;D2S1690E;D2S1788;D2S2186;D2S2328;D2S235E;D2S441;G32992;G33055;PMC155645P1;RH36309;RH48741;RH68727;RH69415;RH69513;RH98720;RH98865;SGC31905;SGC34493;SHGC-31981;SHGC-37149;WI-13618;WI-21651 GF1;GGF1;GINGF;HGF;NS4;SOS-1 OTTHUMP00000128306;OTTHUMP00000204121;gingival fibromatosis, hereditary, 1;guanine nucleotide exchange factor;son of sevenless homolog 1 APPROVED protein-coding ENSG00000115904 HGNC:11187 01681 135300;182530;610733 REVIEWED 1320109 SOX14 SRY (sex determining region Y)-box 14 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008] 3 3 3 q22-q23 135908242 135909059 + 137483134 137485176 + 137764292 137766334 + 1580863;6480464 10441749;10798354;10830911;12100890;12194848;12477932;15489334;20074681;20797317;9827568;9925951 8403 O95132;O95416 ABBA01059099;AC007159;AF032451;AF032453;AF107043;AF193436;AJ006230;AK314127;AMYH02007763;BC106729;BC106730;CH471052;NM_004189 AAC94971;AAC94973;AAC95380;AAF76294;AAI06730;AAI06731;BAG36817;CAB43111;EAW79097;NP_004180;O95416 Hs.248184 1701582;1729093;5492829 RH104425;Sox14;UniSTS:482914 MGC119898;MGC119899;SOX28 HMG box transcription factor SOX-14;OTTHUMP00000216388;SRY-box 14;transcription factor SOX-14 APPROVED protein-coding ENSG00000168875 HGNC:11193 16067 604747 REVIEWED 1313358 SOX17 SRY (sex determining region Y)-box 17 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008] 8 8 8 q11.23 51361039 51364000 + 55370495 55373456 + 54457935 54460896 + 1580863;4889598;6480464;6907045;7240710;8554872;8699517 20816680 11786926;12100890;12194848;12477932;14702039;15163629;16344560;17875931;18413743;18523156;18564921;18682240;18940723;18997786;19301122;19369635;19549530;19736317;20364137;20716954;20960469;21305474;21362573;21457403;21514720;21760905;21957254;22161215;22348788;22846201;22921431;22961961;23044318;23061670;23136251;23169777;23241958;23403728;23474492;23813959;23918253;23999170;24097068;24407731 64321 Q2T9L5;Q9H6I2 AB073988;ABBA01041744;AC091076;AK025905;AMYH02018003;BC030209;BC111365;BC111770;CH471068;DA874945;NG_028171;NM_022454 AAH30209;AAI11366;AAI11771;AAI40308;BAB15277;BAB83867;EAW86748;NP_071899;Q9H6I2 Hs.98367 1677881 RH93135 FLJ22252;VUR3 OTTHUMP00000226577;SRY-related HMG-box transcription factor SOX17;transcription factor SOX-17 APPROVED protein-coding ENSG00000164736 HGNC:18122 18085 610928;613674 REVIEWED 1318728 SOX12 SRY (sex determining region Y)-box 12 Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq, Jan 2013] 20 20 20 p13 401079 405712 + 306215 310872 + 325571 330228 + 1580863;6480464 11071752;11222737;11780052;12477932;15489334;185058;18505825;21988832;24250222;7566098;8889548;9215677 6666 O15370 AA322870;ABBA01053746;AL034548;AMYH02036547;AW296348;BC028103;BC067361;BF530163;BM670751;BU078462;CH471133;HY104751;NM_006943;U35612 AAB69627;AAH67361;EAX10683;NP_008874;O15370 Hs.43627;Hs.712815;Hs.745045;Hs.745058 1676202;1777226;1796860;2168868 RH47996;RH98756;SOX12_1637;STS-T67132 SOX22 OTTHUMP00000029906;SOX-22 protein;SRY (sex determining region Y)-box 22;SRY-related HMG-box gene 22;transcription factor SOX-12 APPROVED protein-coding ENSG00000177732 HGNC:11198 09056 601947 REVIEWED 735734 SOX11 SRY (sex determining region Y)-box 11 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008] 2 2 2 p25 5748512 5756851 + 5832799 5841517 + 5692667 5701385 + 1580863;6480464 10574465;10606637;12100890;12125983;12194848;12477932;12637543;15345747;15944188;16018252;16166090;16276109;17762975;17934069;18029348;19801969;19808959;19880778;19880779;20124476;20383146;20624318;20626275;20919851;21124928;21479697;21738649;21880559;21943380;22738398;22752091;22827557;22915760;22967417;23251661;23266558;23321250;23619925;23648671;23867449;24057671;24145648;24225745;24878000;8332506;8666406;9632656 6664 P35716;Q05CH0 AB028641;ABBA01023886;AC108025;AMYH02003220;BC025789;CH471053;NM_003108;U23752;X73038 AAB08518;AAH25789;AAI60119;AAX88930;BAA88122;CAA51519;EAX01047;NP_003099;P35716 Hs.432638 1643662;1676694;1682339;2110755;2170967;5491910 A007J15;RH15937;RH76305;RH91652;SOX11_863.2;Sox11 MRD27 OTTHUMP00000115385;SRY (sex-determining region Y)-box 11;SRY-related HMG-box gene 11;sry-box containing gene 11;transcription factor SOX-11 APPROVED protein-coding ENSG00000176887 HGNC:11191 02940 600898;615866 REVIEWED 731681 SOX10 SRY (sex determining region Y)-box 10 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 22170048 22182268 - 38368319 38380556 - 37972312 37984532 - 1580863;6480464;7240710;8554872;8699517 10077527;10441344;10482261;10591208;10762540;10942418;11029584;11546831;12138193;12189494;12477932;12668617;12720173;12944398;14523991;15004559;15461802;15489334;15843399;15896776;15930386;16205963;16214168;1636383;16494873;16582099;16741945;16791471;16896310;17009072;17621166;17855451;17855658;17999358;18348267;18348274;18512230;18627047;18636017;18786246;18923447;19320733;19422606;19764030;19912373;19933217;20067553;20130826;20301612;20308050;20478267;20653825;20890226;20974870;21531202;21552103;21890473;21898658;21906983;21965087;21988832;22008330;22094256;22325460;22337526;22514309;22640896;22736149;22772081;22804786;22848661;23000965;23197006;23237859;23260325;23275444;23291581;23413263;23456610;23558573;23643381;23752089;23799842;23801280;23929265;24311220;24335528;24357527;24379252;24501781;24608986;24927141;24982138;9425902;9462749;9722528;9760192 6663 A6PVD3;H0Y5N4;P56693 ABBA01055496;ABBA01055497;AJ001183;AK300945;AL031587;AMYH02038350;BC002824;BC007595;BC018808;BT020029;CH471095;CR456584;CR536571;NG_007948;NM_006941 AAH02824;AAH07595;AAV38832;ABM84098;ABM87470;BAG62574;CAA04576;CAG30470;CAG38808;CAK54614;CAK54913;EAW60204;EAW60205;NP_008872;P56693 Hs.376984 1338492;1672024;1796858 D22S1156;SOX10_1580;STS-N32174 DOM;MGC15649;PCWH;WS2E;WS4;WS4C OTTHUMP00000195094;OTTHUMP00000195095;OTTHUMP00000195097;SRY-related HMG-box gene 10;dominant megacolon, mouse, human homolog of;sry-box containing gene 10;transcription factor SOX-10 APPROVED protein-coding ENSG00000100146 HGNC:11190 03752 602229;609136;611584;613266 REVIEWED 1350865 SOX2-OT SOX2 overlapping transcript ASSOCIATED WITH Lung Neoplasms (inferred); Microphthalmia, Syndromic 3 (inferred); Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System (inferred); INTERACTS WITH all-trans-retinoic acid; methylmercury chloride; valproic acid 3 3 3 q26.33 179761749 179892814 + 180774468 181460016 + 181056680 181742228 + 6480464;8554872 12477932;12612584;14702039;16344560;19767420;24514567 347689 ABBA01058503;ABBA01058504;ABBA01058505;ABBA01058506;ABBA01058507;ABBA01058508;ABBA01058509;ABBA01058510;ABBA01058511;ABBA01058512;AC008009;AC022294;AC068308;AC083904;AC117415;AC125613;AK022826;AL157425;AMYH02008244;AMYH02008245;AMYH02008246;AMYH02008247;AMYH02008248;AMYH02008249;AMYH02008250;AMYH02008251;AMYH02008252;BC016393;BC041898;DA250340;DA281835;DA310380;DA366949;HG496375;HG496376;HG496379;HG496380;HG496382;HG496386;HG496387;HG496388;HG496389;HG496391;HG496392;HG496393;HG496394;HG496397;HG496399;JN711430;JN882275;JQ408703;JX110620;JX504683;KF457721;KF457726;NR_004053;NR_075089;NR_075090;NR_075091;NR_075092;NR_075093 Hs.654932 1341438;1681746;1698278;1698820;1710364;1711122;1724289;1769369;1783900;1784726;1784740;1849292;1852271;2113486;2150344;2165185;7186662 D3S1232;D3S4129;G16679;GDB:1318268;GDB:312782;RH102676;RH102974;RH119069;RH66812;SHGC-106348;SHGC-153786;SHGC-154076;SHGC-82444;SHGC-86213;UniSTS:474706;WI-14081 DKFZp761J1324;NCRNA00043;SOX2OT APPROVED ncrna HGNC:20209 VALIDATED 1323788 SOX15 SRY (sex determining region Y)-box 15 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7517821 7519811 - 7491496 7494037 - 7588180 7590170 - 1580863;6480464 10524236;10821863;12100890;12194848;12477932;15367664;15489334;16759287;17363903;18182846;18579725;20211142;22197929;23318427;8332506;8978787;9540826;9730625;9827568;9880678 6665 O60248 AB006867;AB025355;ABBA01054873;AC016876;AF032450;AF032452;AJ006222;AMYH02032908;BC000985;BC072003;CH471108;NG_009204;NM_006942;X73039 AAC94970;AAC94972;AAH00985;AAH72003;ABM81662;ABM84834;BAA25663;BAA78784;CAA06920;CAA51520;EAW90156;EAW90157;NP_008873;O60248 Hs.95582 1646584;1665612;1695012;1730111;2218048 D17S812E;G44719;SOX15_2765;STS-N93513;WI-15346 SOX20;SOX26;SOX27 SRY (sex determining region Y)-box 20;protein SOX-15 APPROVED protein-coding ENSG00000129194 HGNC:11196 03191 601297 REVIEWED 1312334 SOX21 SRY (sex determining region Y)-box 21 SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[supplied by OMIM, Apr 2004] 13 13 13 q31-q32 76209825 76212338 - 95361876 95364389 - 94709622 94712135 - 1580863;6480464 10441749;11076863;12194848;12477932;1614875;16341674;20824710;23463365;8111369;9827568 11166 O95129;Q9Y651 ABBA01027206;ABBA01027207;AF032449;AF107044;AI418194;AI569726;AI816765;AL137061;AMYH02028507;BM783159;CH471085;NM_007084;X65666;X71136 AAC94969;AAC95381;AAI11585;CAA46617;CAA50466;EAX08946;NP_009015;Q9Y651 Hs.187577 1677969;1701584;5492861 RH104426;RH75757;UniSTS:483061 SOX-A;SOX25;SRY-box 21 OTTHUMP00000018558;transcription factor SOX-21 APPROVED protein-coding ENSG00000125285 HGNC:11197 16083 604974 VALIDATED 1347884 SOX3 SRY (sex determining region Y)-box 3 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency. [provided by RefSeq, Jul 2008] X X X q27.1 139957265 139959338 - 139585152 139587225 - 140502987 140505060 - 1580863;6480464;7240710;8699517;8554872 10729834;11071752;12194848;12428212;12477932;12710953;14585968;14714741;15292361;15342697;15489334;15772651;15788563;15800844;1614875;17005281;17127446;17549794;17587179;17627381;17910945;17994562;19799567;19902333;20534763;21183788;21636067;22293114;23199197;23211052;23238694;23624391;8111369;8625802;9106538 6658 P41225;Q15505 ABBA01066153;AF264713;AL121875;AMYH02040624;BC093863;BC093865;CH471150;NG_009387;NM_005634;X65665;X71135;X71137 AAF73059;AAH93863;AAH93865;CAA46616;CAA50465;CAA50467;EAW88422;NP_005625;P41225 Hs.157429 1340648;1682347;1683703;1728917;1793628;1798214;5492293;5492607;5493019 DXS1187;DXS737;G42697;PMC24149P3;RH80867;SOX3_2438;Sox3;UniSTS:481771;UniSTS:483758 GHDX;MRGH;PHP;PHPX;SOXB OTTHUMP00000024166;transcription factor SOX-3 APPROVED protein-coding ENSG00000134595 HGNC:11199 02432 300123;312000;313430 REVIEWED 1344695 SOX2 SRY (sex determining region Y)-box 2 This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008] 3 3 3 q26.3-q27 179863407 179865909 + 181429712 181432224 + 181711924 181714436 + 1599088;1580863;6480464;7240710;8554872;8661657;8661670;8661675;8661654;8661660;8699517;8661661;8661677;8661663;8661664;8661672;8661665;8661666;8661656 12612584;19471311;19921648;21410764;21689966;21822303;22561374;22832207;22899292;23169458;23518916;23544055;23828673;24382260 10089404;10729834;10760287;10801796;11358870;12194848;12477932;12637543;12710953;12732652;12923055;14559893;14655050;14719100;15143193;15146197;15489334;15910596;15920534;16153702;16283891;16344560;16543359;16552336;16596179;16712695;16932809;17136346;17219395;17291498;17334350;17389240;17464316;17506876;17522144;17587179;17898260;17982423;18000303;18027866;18039390;18157115;18162777;18187129;18199879;18268498;18285410;18293417;18366076;18385794;18388306;18393632;18407919;18456656;18474784;18710938;18757296;18831064;18836133;18948646;19061938;19254784;19327014;19396148;19409607;19414369;19427902;19458492;19483629;19520737;19549847;19554373;19591226;19657699;19661786;19696409;19716157;19723802;19736317;19767420;19787784;19801978;19816951;19876845;20042675;20057906;20114006;20126410;20138825;20161759;20185800;20211142;20299530;20301477;20301552;20301753;20349085;20368621;20371328;20382729;20384793;20425471;20454695;20494911;20510497;20537983;20631605;20667095;20698766;20709360;20726797;20739473;20824710;20850729;20875870;20879854;20937145;20949537;21048121;21103394;21166886;21190055;21211035;21227461;21251041;21276239;21280222;21304604;21305642;21323603;21376027;21415100;21419292;21433225;21460799;21518820;21531766;21532573;21540835;21549328;21631526;21687954;21716161;21803132;21804543;21852325;21919124;21927024;21931300;21940738;21947321;21951286;21962512;22014056;22015605;22046437;22069467;22070920;22171155;22184093;22184289;22200372;22204637;22236193;22265740;22311737;22396547;22401770;22469032;22482508;22539002;22542624;22571403;22576801;22576926;22613719;22615765;22718759;22777760;22791809;22814375;22847005;22863087;22899289;22912670;22937156;22941189;22945632;23005595;23009336;23060440;23086772;23111103;23135265;23159246;23211052;23213213;23279472;23301671;23307254;23326489;23336432;23349823;23362975;23414798;23424657;23430442;23451179;23462476;23462687;23463365;23510069;23539445;23541921;23545177;23549118;23553930;23568430;23596255;23599173;23613102;23613880;23620753;23667531;23701296;23736381;23796710;23815808;23867475;23884650;23895273;23932306;23932716;23939864;23972993;24107627;24126941;24211324;24229625;24233838;24291232;24294370;24307698;24325912;24404135;24427323;24477565;24508466;24590290;24656096;24659665;24669837;24719354;24736545;24743512;24752338;24763828;24842609;24858640;24954133;25016694;25042802;7590241;7849401;8889548 6657 P48431 ABBA01058503;AC117415;AMYH02008251;AW016610;AW163619;BC013923;BF305585;BM668019;BM722297;CH471052;CN430685;DA388996;L07335;NG_009080;NM_003106;Z31560 AAA35997;AAH13923;ABZ92183;CAA83435;EAW78354;NP_003097;P48431 Hs.518438;Hs.732963 1681746;2113486 RH66812;UniSTS:474706 ANOP3;MCOPS3;MGC2413 OTTHUMP00000212684;SRY-related HMG-box gene 2;transcription factor SOX-2;transcription factor SOX2 APPROVED protein-coding ENSG00000181449 HGNC:11195 08921 184429;206900 REVIEWED 1323321 SOX18 SRY (sex determining region Y)-box 18 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 59365185 59367085 - 62679079 62680979 - 64047726 64049626 - 1599075;1580863;6480464;7240710;8554872;8699517 12740761 10807548;10858556;11130989;11554755;11748221;11780052;12100890;12165811;12194848;12477932;15489334;1614875;16179596;16882943;18065521;18496767;18564920;18564921;21796627;21988832;22018271;22292085;24065215;24269235;24460943;7665083 54345 P35713 AB033888;ABBA01021438;ABBA01021439;AF086136;AF270652;AJ243896;AL355803;AMYH02037480;AMYH02037481;BC035513;BC038590;BC073971;BC111390;CH471077;NG_008095;NM_018419;X65664 AAG48577;AAH38590;AAH73971;AAI11391;BAA94874;CAA46615;CAB95835;EAW75172;NP_060889;P35713 Hs.8619 1698650 RH102882 HLTS OTTHUMP00000031624;SRY-box 18;transcription factor SOX-18 APPROVED protein-coding ENSG00000203883 HGNC:11194 07208 601618;607823 REVIEWED 5130490 SOX21-AS1 SOX21 antisense RNA 1 (head to head) INTERACTS WITH methylmercury chloride; valproic acid 13 13 q32.1 95364970 95368500 + 94712716 94715945 + 6480464 14702039 100507533 ABBA01027205;ABBA01027206;AK055459;AL137061;AMYH02028507;NR_046514 Hs.556071 1677969;1701584;1706820 RH104426;RH75757;SHGC-80887 FLJ30897 APPROVED ncrna ENSG00000227640 HGNC:39807 VALIDATED 1320144 SOX13 SRY (sex determining region Y)-box 13 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008] 1 1 1 q32 177177489 177232113 + 204042237 204096871 + 204073109 204127743 + 1580863;6480464 10198172;10854791;10871192;11126406;11264788;11270687;11286511;11323090;12021109;12021128;12021135;12100890;12194848;12473246;12477932;14679071;15231748;19536175;20028982;21988832;9421502 9580 B4DX26;E9PKD6;E9PPW0;H0YDQ5;Q9UN79 ABBA01027452;ABBA01027453;ABBA01027454;ABBA01027455;ABBA01027456;AF083105;AF098915;AF116571;AF149301;AK301782;AK304192;AK304801;AK314197;AL592146;AMYH02002530;AMYH02002531;BC040649;BC106038;BM450236;BQ216323;BQ935858;CH471067;NM_005686;XM_005245623 AAC83687;AAD16237;AAD50120;AAF23875;AAI06039;ABZ92220;BAG63238;BAG65072;BAG65551;EAW91499;EAW91500;NP_005677;Q9UN79;XP_005245680 Hs.201671 1335020;1337402;1647541;1721847;1796862;1851113;5015404;5016596;5020414;5037552;5094186 D1S2668;D1S2717;D8S2279;G54597;G59948;GDB:631802;L17688;L17705;SHGC-76123;SOX13_415;WI-10728 ICA12;MGC117216;Sox-13 OTTHUMP00000034307;SRY-box 13;SRY-related HMG-box gene 13;islet cell antibody 12;islet cell antigen 12;transcription factor SOX-13;type 1 diabetes autoantigen ICA12 APPROVED protein-coding ENSG00000143842 HGNC:11192 604748 REVIEWED 1345400 SOX5P SRY (sex determining region Y)-box 5 pseudogene 8 8 8 q21.2 84995094 84996543 - 88800463 88801912 - 87788235 87789684 - 1580863 12194848;8812465;9827568 6661 O95133 ABBA01037378;AC005066;AC032002;AF032454;AMYH02018374;NG_002726 AAC94974 1676095 RH80811 SOX29 pseudo HGNC:11202 INFERRED 1319208 SOX8 SRY (sex determining region Y)-box 8 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1240025 1245196 + 1031808 1036979 + 981808 986979 + 1580863;6480464;8554872 10662550;10684944;11157797;11483257;12477932;12665801;12732652;14702039;15489334;15616553;16582099;18492098;18512230;19369635;20211142;21532573;21833088;21890473;21906983;21988832;23000965;23739915 30812 P57073;Q9H7I9 ABBA01030336;AC009041;AE006465;AF164104;AF226675;AK024491;AMYH02031211;BC031797;CH471112;KF456143;NG_009933;NM_014587;Z99757 AAF35886;AAF37424;AAH31797;AAK61260;BAB15781;CAB75612;EAW85691;EAW85692;NP_055402;P57073 Hs.243678 1646826;1731695;1791488;2124595 D16S525;PMC111037P2;STS-H16586;STS-Z41122 MGC24837 OTTHUMP00000151195;transcription factor SOX-8 APPROVED protein-coding ENSG00000005513 HGNC:11203 16175 605923 REVIEWED 1602491 SOX30 SRY (sex determining region Y)-box 30 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 5 5 5 q33 153079301 153106027 - 157051804 157099138 - 157624796 157672128 - 6480464;8554872 10359848;11678506;12477932;15019997;15489334;16189514;18029348;18436822;21143990;21988832;22990118 11063 B4DXW7;O94993 AB022083;AB022441;ABBA01044265;AC008694;AK302162;AK308329;AMYH02012554;BC033492;CH471062;HC007288;NM_007017;NM_178424;XM_005265802;XM_005265803 AAH33492;BAA37146;BAA37149;BAG63529;CBH19449;EAW61593;EAW61594;NP_008948;NP_848511;O94993;XP_005265859;XP_005265860 Hs.744348 1682321;1796864;2134615;5022731;7186203 D5S2525;RH93130;SOX30;SOX30_1458 OTTHUMP00000160739;OTTHUMP00000160740;Sox30 protein type II;transcription factor SOX-30 APPROVED protein-coding ENSG00000039600 HGNC:30635 09461 606698 REVIEWED 1319854 SOX4 SRY (sex determining region Y)-box 4 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008] 6 6 6 p22.3 22827304 22832182 + 21593972 21598850 + 21593741 21598619 + 1581119;1581304;1581305;1581306;1580863;6480464 12011571;15231650;16585165;9815146 10381369;10729834;10867006;11071752;11127205;11498591;12100890;12125983;12194848;12216117;12477932;14574404;15146197;15345747;15489334;15522200;1614875;16341674;16618720;16631117;16636670;17507571;17875931;17922414;18029348;18504433;18577562;19147588;19153074;19156145;19234109;19322201;19453261;19454010;19487295;19887623;20049565;20080751;20237496;20331975;20400479;20419098;20423819;20952589;21165564;21348951;21533022;21680105;21986941;22084397;22098624;22231735;22510499;22542805;22627767;22689055;22787120;23152540;23251334;23284291;23285187;23301048;23389731;23402613;23482931;23613880;23677061;23916609;23917306;24183681;24435928;7706298;8268656;8404853;8530483;8889548;9730625 6659 Q06945 ABBA01022279;ABBA01022280;AF070669;AF124147;AJ420500;AL136179;AMYH02013276;BC072668;BM459088;BM817788;BM822945;CF147018;CH471087;CN419098;CX873598;HY065060;NG_029166;NM_003107;X65661;X70683 AAH72668;ABZ92184;CAA46612;CAA50018;EAW55429;NP_003098;Q06945 Hs.643910 1680198;1771833;1791758;1796866;2124910;2128335;2161593;2190905 A002M13;MARC_10647-10648:1000474126:1;PMC123659P3;RH36579;RH46888;RH79983;SGC33328;SOX4_1527 EVI16 OTTHUMP00000017714;SRY-related HMG-box gene 4;ecotropic viral integration site 16;transcription factor SOX-4 APPROVED protein-coding ENSG00000124766 HGNC:11200 01695 184430 REVIEWED 1603322 SOX5 SRY (sex determining region Y)-box 5 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 12 12 12 p12.1 28833198 29862278 - 23682438 24715383 - 23532297 24562449 - 6480464;8554872 10729834;11071752;11585348;11912161;12100890;12194848;12406576;12477932;14702039;15231748;15489334;1614875;17230535;17554380;18519826;19173284;19219070;19453261;19754311;20062060;20195266;20339536;20379614;20634891;20639392;20668334;21262861;21330457;21532573;21728837;21779181;21832049;21988832;22094256;22197933;22290657;22396742;22547066;23220431;23498568;24418753;24607904;24945754;8078769;8125298;8812465;8889548;9755172 6660 F5GWL1;F5H0I3;F5H876;G3V0H1;I3L0A5;P35711;T2CYZ2 AB081588;AB081589;AB081590;AB081591;ABBA01067994;ABBA01067995;ABBA01067996;ABBA01067997;ABBA01067998;ABBA01067999;ABBA01068000;ABBA01068001;ABBA01068002;ABBA01068003;ABBA01068004;AC069208;AC087244;AC087260;AC087312;AC087319;AC087322;AC090675;AC092773;AC092830;AC092864;AC112915;AK074317;AK096569;AK098610;AK223536;AK299607;AK303970;AMYH02026195;AMYH02026196;AMYH02026197;AMYH02026198;AMYH02026199;AMYH02026200;AMYH02026201;AMYH02026202;AMYH02026203;AMYH02026204;AMYH02026205;AMYH02026206;AMYH02026207;AMYH02026208;AMYH02026209;AMYH02026210;AMYH02026211;AMYH02026212;BC014929;BC029220;BC035227;BC047665;BC060773;BC065532;BU675886;CH471094;CR456713;HC025818;HG504585;HG504586;HG504588;JX570584;JX570585;NG_029612;NM_001261414;NM_001261415;NM_006940;NM_152989;NM_178010;S83308;X65662;XM_006719149;XM_006719150 AAB49537;AAH29220;AAH35227;AAH47665;AAH60773;ADZ15623;AGV38565;AGV38566;BAB85048;BAC05353;BAC16233;BAC16234;BAC16235;BAC16236;BAD97256;BAG53325;BAH13079;BAH14086;CAA46613;CAG32994;CBH19840;EAW96486;EAW96487;EAW96488;EAW96489;EAW96490;EAW96491;EAW96492;NP_001248343;NP_001248344;NP_008871;NP_694534;NP_821078;P35711;XP_006719212;XP_006719213 Hs.657542 1298188;1340375;1655256;1673008;1676095;1690494;1699952;1705172;1708268;1709058;1713119;1722839;1725881;1726719;1726825;1727463;1728491;1728557;1752535;1753829;1760087;1762357;1764893;1782690;1782720;1782798;1787570;1853608;1855515;1857528;2118974;2121906;2125929;2152939;2161354;2163351;2170567;2170772 D12S1057;D12S1591;D12S1822;D12S1942;D12S1950;D12S292;G17656;G19258;G35318;G60361;G62383;G62747;G62804;G62989;G63683;G63717;RH103584;RH120347;RH45463;RH45564;RH80021;RH80811;SHGC-106422;SHGC-107736;SHGC-108028;SHGC-146191;SHGC-148450;SHGC-155005;SHGC-155556;SHGC-155690;SHGC-79400;SHGC-80033;SHGC-84176;SHGC-85675;STS-H73926;STS-N27112;WI-18056;WI-3881 L-SOX5;L-SOX5B;L-SOX5F;MGC35153;RP11-444D3.1 OTTHUMP00000239955;OTTHUMP00000239958;OTTHUMP00000239959;OTTHUMP00000239960;OTTHUMP00000239961;OTTHUMP00000239962;OTTHUMP00000239963;transcription factor SOX-5 APPROVED protein-coding ENSG00000134532 HGNC:11201 18086 604975 REVIEWED 1322513 SOX9 SRY (sex determining region Y)-box 9 The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008] 17 17 17 q24.3 66688499 66693898 + 70117161 70122561 + 72121020 72126420 + 1599093;1580863;6480464;7240710;8554872;8699517 7990924 10446171;10805756;10951468;11076045;11323423;11331609;11356186;11707075;11754051;11990798;12111997;12128229;12136106;12381733;12414734;12420222;12477932;12673561;12713737;12732631;12783851;12935820;15077158;15132997;15192080;15240557;15240568;15266301;15456769;15489334;15623506;15694126;15781631;1583645;15889150;15896776;15908194;15922909;16109717;16155402;16554309;16791471;17050539;17197889;17234760;17277314;17289023;17360815;17409199;17532558;17551083;17615267;17702866;17848411;17935617;17986281;18029348;18077449;18087279;18271004;18296708;18333897;18339840;18391513;18433381;18512230;18519685;18550917;18577562;18628953;18671802;18677406;18705695;18794798;18820665;18830622;18923447;19019766;19041414;19061938;19080707;19113914;19234473;19322650;19453261;19463983;19473998;19509063;19614725;19637360;19657054;19801163;19828133;19845757;19921652;20039424;20049725;20098296;20103652;20196777;20301211;20301724;20484142;20513132;20530484;20569257;20593410;20628624;20634891;20651055;20838034;21078438;21084857;21139048;21173804;21193222;21208124;21284335;21297661;21321311;21385068;21412441;21427722;21614988;21682576;21693691;21728837;21853455;21861142;21869831;21890473;21906983;21983268;21988832;21991335;21995959;22001757;22051515;22052544;22102413;22158061;22209504;22246670;22271799;22331131;22385677;22385965;22424883;22504420;22515642;22523547;22532563;22547066;22570960;22665440;22698986;22714060;22761195;22766303;22769578;22795539;22846713;22962301;23000965;23064448;23064761;23146920;23178713;23225119;23253807;23284291;23306204;23349860;23408906;23426182;23433069;23583560;23592398;23618358;23626837;23635786;23648064;23671695;23727861;23806070;23814265;23870195;23900217;23933788;24014021;24023777;24038782;24063364;24098470;24115316;24135036;24155239;24212241;24254229;24418153;24459991;24631504;24634209;24661907;7485151;7747782;8001137;8348155;8640233;8894698;9002675;9143916;9569122;9724758;9774680 6662 P48436 ABBA01028898;ABBA01028899;AC007461;AK295455;AMYH02033936;BC007951;BC018276;BC056420;BT006875;CH471099;CS025618;NG_012490;NM_000346;S74504;S74505;S74506;Z46629 AAB32870;AAH07951;AAH56420;AAP35521;BAG58389;CAA86598;CAI61686;EAW89102;NP_000337;P48436 Hs.647409 1680238;1689127;1729097;1791760;1794660;1794716;2148985;5117564;5492338 GDB:580585;MARC_71570-71571:1249593890:3;PMC123659P4;PMC34415P1;PMC351321P1;RH79827;RH91806;SHGC-35378;Sox9 CMD1;CMPD1;SRA1 OTTHUMP00000232537;SRY (sex-determining region Y)-box 9 protein;SRY-related HMG-box, gene 9;transcription factor SOX-9 APPROVED protein-coding ENSG00000125398 HGNC:11204 06427 114290;608160 REVIEWED 1320707 SOX7 SRY (sex determining region Y)-box 7 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 9709191 9716191 - 10581278 10588084 - 10723768 10730574 - 1580863;6480464 11691915;12477932;14702039;15231748;15489334;18682240;18819930;18940723;19108950;20467438;21060863;21832049;22171135;22706399;22777918;23295859;23557216;24012678;8125298 83595 Q9BT81 ABBA01026889;AC105001;AJ409320;AK055556;AK223574;AMYH02017429;BC004299;BC071947;BE671627;BG740632;BT006693;BU187815;HY089489;NM_031439 AAH71947;AAP35339;BAB70955;BAD97294;CAC84226;NP_113627;Q9BT81 Hs.709543 1679483;1796870;1851338;5117010 RH65392;RH81045;SOX7;SOX7_1773 MGC10895 OTTHUMP00000115701;SOX7 transcription factor;transcription factor SOX-7 APPROVED protein-coding ENSG00000171056 HGNC:18196 18087 612202 REVIEWED 4768296 SOX30P1 SRY (sex determining region Y)-box 30 pseudogene 1 5 5 5 q33.3 153143842 153145509 - 157116941 157118244 - 157689933 157691236 - 442142 ABBA01044264;AC008694;AMYH02012555;NG_028192 pseudo HGNC:35122 INFERRED 1319098 SOX6 SRY (sex determining region Y)-box 6 This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] 11 11 11 p15.3 16115232 16625247 - 15987995 16497935 - 15966449 16476388 - 1581307;1580007;1580863;1580857;6480464;8554872 10760285;15696967;16148004 10996314;11076863;11230166;11255018;11256614;11504872;12477932;14530442;14691456;14702039;15489336;15696972;1614875;16258006;16344560;16381901;16442531;17412698;17433257;17961134;19240061;19384854;19453261;19709629;19714249;19801982;19913121;20379614;20395365;20548944;20628086;20966410;21084391;21104366;21262861;21263153;21625884;21728837;21988832;22504420;22547066;22864933;23663701;23667531;23731550;23972371;24249740;9755172 55553 E9PN02;E9PQ67;E9PQ78;E9PQL4;P35712 ABBA01061086;AC009869;AC013595;AC027016;AC068405;AC100865;AC103794;AF309034;AF309471;AF309472;AF309473;AF309474;AF309475;AF309476;AK021785;AK097455;AK310506;AL136780;AL833302;AMYH02024364;AMYH02024365;AMYH02024366;AMYH02024367;AMYH02024368;AMYH02024369;BC029429;BC037866;BC047064;CH471064;DB080840;DB093816;KF510365;NG_012881;NM_001145811;NM_001145819;NM_017508;NM_033326;X65663 AAH47064;AAK26115;AAK26243;AAK26244;CAA46614;CAB66714;CAL37472;CAL37608;CAL38234;EAW68458;EAW68459;EAW68460;NP_001139283;NP_001139291;NP_059978;NP_201583;P35712 Hs.368226 1342158;1651876;1664485;1671211;1679183;1705546;1706636;1708888;1713775;1727925;1729095;1737105;1739513;1750939;1770439;1779622;1782510;1796868;1852740;2121934;2135904;2136083;2150322;2156935;2158406;2169830;2174332;5019841 A010A46;D11S1397;D11S2336;D11S2872;D11S4042;D11S4044;G30608;G33060;G63381;RH120774;RH45425;RH65285;RH68714;RH94315;SHGC-104674;SHGC-153595;SHGC-35069;SHGC-37207;SHGC-82799;SHGC-83438;SHGC-83873;SHGC-83953;SOX6_844;STS-H69535;UniSTS:144491;WI-16902;WI-17844;WI-17892 HSSOX6;SOXD OTTHUMP00000231372;OTTHUMP00000231373;OTTHUMP00000231374;OTTHUMP00000231375;SRY-box containing gene 6;transcription factor SOX-6 APPROVED protein-coding ENSG00000110693 HGNC:16421 06267 607257 REVIEWED 7387067 SOX9-AS1 SOX9 antisense RNA 1 17 17 17 q24.3 66638528 66683495 - 70067183 70233344 - 72071042 72120793 - 14702039;22001757 400618 ABBA01028899;ABBA01028900;ABBA01028901;AC005243;AC007461;AK056229;AK094963;AL833139;AMYH02033934;AMYH02033935;AMYH02033936;NR_103737;NR_103738 Hs.657374 ncrna ENSG00000234899 HGNC:49321 VALIDATED 1604252 SP140L SP140 nuclear body protein-like ENCODES a protein that exhibits DNA binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; calcitriol; ethyl methanesulfonate 2 2 2 q37.1 224968052 225044599 + 231191894 231268445 + 230327175 230403730 + 6480464;8554872 12477932;14702039;16344560;19953087;20379614;20800603;21832049;21906983;21963094;22118674;22505724;23000965;23942779 93349 H7BYP4;Q9H930;U5Y1J8;U5Y3L1;U5Y3U3 ABBA01050128;AC009949;AK023116;AMYH02005951;AU130836;BC004921;BC105007;BC143624;BQ232706;BQ690359;CH471063;CR987282;DB240458;DW428200;HA637636;KF419365;KF419366;KF419367;NM_138402;XM_006712854;XM_006712855;XM_006712856;XM_006712857;XM_006712858;XM_006712859 AAH04921;AAX88869;AGZ83102;AGZ83103;AGZ83104;BAB14413;CAZ39540;EAW70924;EAW70925;EAW70926;NP_612411;Q9H930;XP_006712917;XP_006712918;XP_006712919;XP_006712920;XP_006712921;XP_006712922 Hs.589661 1337617;1699732;5037552 D2S256;D8S2279;RH103472 MGC132667 OTTHUMP00000207580;OTTHUMP00000224456;SP140L-1 protein;SP140L-2 protein;SP140L-3 protein;nuclear body protein SP140-like protein protein-coding ENSG00000185404 HGNC:25105 14299 PROVISIONAL 1347414 SP2 Sp2 transcription factor This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. It localizes primarily within subnuclear foci associated with the nuclear matrix, and can activate or in some cases repress expression from different promoters. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 42426326 42459131 + 45973516 46006323 + 47896150 47932271 + 1580863;6480464 10454592;10547281;12477932;1341900;14702039;14726517;15126343;15489334;15788387;15953604;15987735;16201967;16467376;17071613;17827154;18029348;18051367;19482358;19698806;19834535;21832049;23667531;24163370;24623314;7584044;9730617 6668 Q02086;Q9BRW5 ABBA01041147;AC018521;AK097532;AMYH02033529;BC005914;BC016680;BC033814;CH471109;D28588;DB451570;M97190;NM_003110;XM_006722023;XM_006722024;XM_006722025;XM_006722026;XM_006722027;XM_006722028 AAA36629;AAH05914;AAH16680;AAH33814;ADZ15566;BAA05923;EAW94782;EAW94783;EAW94784;EAW94785;EAW94786;EAW94787;NP_003101;Q02086;XP_006722086;XP_006722087;XP_006722088;XP_006722089;XP_006722090;XP_006722091 Hs.514276 1690228;1723869;1734432;1779430;1796872;2159252;2160787;2184487;5022578;5109281 D17S1404E;D17S2015;D1S1423;D1S1425;RH118670;RH17404;RH25284;SHGC-153414;SP2_846;WI-22192 OTTHUMP00000196580;transcription factor Sp2 APPROVED protein-coding ENSG00000167182 HGNC:11207 03481 601801 REVIEWED 2302538 SP3P Sp3 transcription factor pseudogene INTERACTS WITH methyl methanesulfonate 13 13 13 q31.3 70853721 70857357 - 90012120 90015756 - 89359866 89363502 - 6480464 12477932;15474306 160824 ABBA01027258;AL163533;AL354997;AMYH02028443;AY441959;BC036697;NG_004748 Hs.407509 1793904;2188795;2188811 G66493;G66505;PMC305603P1 pseudo HGNC:35430 INFERRED 1319818 SP3 Sp3 transcription factor This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. A related pseudogene has been identified on chromosome 13. [provided by RefSeq, Feb 2010] 2 2 2 q31 168384626 168443931 - 174771187 174830430 - 173906459 173965702 - 1580863;6480464 10391891;10547281;10816575;10825178;11237613;11447232;11517158;11773047;11796707;11839742;11850421;11867623;12004059;12054741;12071960;12091390;12133007;12151407;12176973;12186868;12200149;12297010;12297462;12356736;12378384;12411611;12414801;12419227;12477932;12509426;12560508;12576329;12664565;12665570;12694199;12730302;12771217;12818425;12837748;12855685;12911579;12943729;12972613;1341900;1454515;14608051;14623259;14645238;14667819;14697235;14742449;14766015;14767471;14767558;14970236;15107420;15111490;15118068;15247228;15247906;15466927;15474306;15489334;15494207;15523672;15546615;15572681;15619633;15666829;15706661;15747776;15777284;15780936;15781457;15790310;15816870;15821099;15831526;15869407;15951564;15979574;15987735;16024108;16081043;16150893;16201967;16339759;16529657;16574784;16603733;16651265;16671893;16672217;16677608;16696853;16734381;16760259;16806531;16807381;16965966;17124180;17130167;17241874;17297470;17343736;17540780;17548428;17616668;17652716;17681019;17698844;17894944;17906119;18053089;18065760;18195733;18314536;18329191;18342022;18343609;18348986;18393243;18496767;18522535;18543253;18593936;18604866;18725933;19064501;19212434;19309563;19339282;19471022;19505873;20180024;20385708;20442780;20462637;20518744;20519498;20538607;20974858;21235713;21248046;21335086;21554857;21604172;21693764;21906983;21919647;22139845;22311708;22464952;22682030;22871965;23000412;23028678;23133566;23223231;23326307;23401853;23464785;23523134;23540600;23974705;23996530;24029427;24315822;24654937;7559627;7732011;7800480;8845379;8896459;8938460;9224612;9278495;9329821;9388268 6670 B7ZLN9;H0Y6K5;H0Y7L6;Q02447;Q59FX5;Q86TP0 AA706229;AB209334;ABBA01062178;ABBA01062179;ABBA01062180;AC016737;AC093399;AF494280;AJ310752;AK304199;AMYH02005264;AMYH02005265;AW204666;AW295583;AY070137;AY251018;AY441957;AY441958;BC042945;BC126414;BC143928;BQ010796;BX648857;CH471058;CR749323;M97191;NG_029153;NM_001017371;NM_001172712;NM_003111;X68560 AAA36630;AAH42945;AAI26415;AAI43929;AAL58086;AAL58087;AAL58088;AAM12875;AAP03059;AAR30505;AAR30506;ADR83384;BAD92571;BAG65079;CAA48562;CAC34575;CAH18178;EAX11152;EAX11153;EAX11154;EAX11155;NP_001017371;NP_001166183;NP_003102;Q02447 Hs.531587 1708794;1778659;1793904;2110757;2115233;2168785 PMC305603P1;RH65732;RH65817;RH68948;SHGC-81056;SP3_2024 DKFZp686O1631;SPR-2;SPR2 GC-binding transcription factor Sp3;OTTHUMP00000163171;OTTHUMP00000205122;OTTHUMP00000220849;specificity protein 3;transcription factor Sp3 APPROVED protein-coding ENSG00000172845 HGNC:11208 03483 601804 REVIEWED 731794 SP4 Sp4 transcription factor ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Cardiomyopathy, Dilated; Heart Defects, Congenital; Death, Sudden, Cardiac (ortholog); FOUND IN cytoplasm; nucleus; INTERACTS WITH all-trans-retinoic acid; arsenous acid; calcitriol 7 7 7 p15.3 21453188 21539659 + 21467689 21554440 + 21428071 21514822 + 1581308;1581309;1580019;1580863;6480464;8554872 11007485;15907824;15972724 10547281;10570957;11438531;11943774;12004059;12107411;12477932;12560508;12853948;1454515;15345676;15781457;15788387;15883203;16201967;16574784;17356515;18593936;19401786;19656107;19934275;20038947;20125088;20298200;20487506;20538607;20634195;21919647;22017217;22614877;23103227;23540600;23941741;24722188;7559627;7607696;7800480 6671 C9JUS7;F8WB93;Q02446 ABBA01056682;ABBA01056683;AC004595;AK289728;AK296749;AMYH02015344;BC015512;BC109300;BC109301;BQ639622;CH236948;CH471073;KF458401;NM_003112;X68561;XM_005249828;XM_005249829 AAI09301;AAI09302;ABZ92432;BAF82417;BAG59332;CAA48563;EAW93733;NP_003103;Q02446;XP_005249885;XP_005249886 Hs.88013 1338231;1657972;1658389;1668685;1722825;1851526;2137691;2142025;2218050;7185218 D7S2562;G01876;G60354;GDB:1317532;GDB:1318416;RH46964;SHGC-55987;SP4;SP4_3465 HF1B;MGC130008;MGC130009;SPR-1 OTTHUMP00000120032;transcription factor Sp4 protein-coding ENSG00000105866 HGNC:11209 02764 600540 VALIDATED 1320919 SP110 SP110 nuclear body protein The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 224809754 224866568 - 231033634 231090444 - 230168918 230225729 - 1580863;6480464;7240710;8554872;8699517 10388521;10913195;12477932;12539042;14559998;15063762;15308735;15489334;16169070;16344560;16648851;16803959;16816019;16960008;17149599;17287948;17510920;17883869;18029348;18187620;18239623;18758461;20196868;20211142;20301448;20331378;20332261;20353833;21033425;21222611;21397050;21536091;21900206;22522001;22621957;22691368;22700719;23129390;23251661;23770605;24292274;24816145;7693701 3431 C9JZQ4;E7EM70;E9PHK4;G5E9C0;Q9HB58 ABBA01050130;AC009950;AF280094;AF280095;AK026488;AK128274;AK301097;AL579921;AL832300;AMYH02005951;BC012447;BC019059;BG231996;CA432211;CH471063;DA958469;DB474530;DQ124709;DQ124712;DQ124713;DQ124714;DQ124715;KF510789;L22343;NG_008295;NM_001185015;NM_004509;NM_004510;NM_080424;XM_005246525;XM_005246527;XM_006712486;XM_006712487;XM_006712488;XM_006712489 AAD13402;AAF99318;AAG09826;AAH12447;AAH19059;AAX93281;AAZ23281;AAZ23282;AAZ23283;AAZ23284;AAZ23285;ADZ16028;BAG62696;EAW70915;EAW70916;EAW70917;EAW70918;EAW70919;NP_001171944;NP_004500;NP_004501;NP_536349;Q9HB58;XP_005246582;XP_005246584;XP_006712549;XP_006712550;XP_006712551;XP_006712552 Hs.145150 1662706;1708560;2126751;2159478;2175191;5111114 G09664;RH45567;RH66657;RH78723;SGC32635;SHGC-85063 FLJ22835;IFI41;IFI75;IPR1;VODI OTTHUMP00000164263;OTTHUMP00000204405;OTTHUMP00000204406;OTTHUMP00000204419;interferon-induced protein 41, 30kD;interferon-induced protein 41/75;interferon-induced protein 75, 52kD;phosphoprotein 41;phosphoprotein 75;speckled 110 kDa;transcriptional coactivator Sp110 APPROVED protein-coding ENSG00000135899 HGNC:5401 06832 235550;604457;607948 REVIEWED 1315575 SP6 Sp6 transcription factor SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008] 17 17 17 q21.32 42375084 42386045 - 45922280 45933240 - 47844908 47876145 - 6480464;8554872 11087666;12477932;14551215;15489334;23535033 80320 B3KXP2;Q3SY56 ABBA01041146;AC003665;AC018521;AK127707;AK127850;AMYH02033529;BC103951;BC103952;BC103953;BC103954;CH471109;NM_001258248;NM_199262;XM_006722115 AAI03952;AAI03953;AAI03954;AAI03955;BAG54554;BAG54586;EAW94789;NP_001245177;NP_954871;Q3SY56;XP_006722178 Hs.253603 1682323;1703386;2219706 RH92416;SHGC-68687;SP6__5287 EPFN;KLF14;MGC119662;MGC119663;MGC119664;MGC119665 EPIPROFIN;Kruppel-like factor 14;OTTHUMP00000162947;krueppel-like factor 14;transcription factor Sp6 APPROVED protein-coding ENSG00000189120 HGNC:14530 12269 608613 VALIDATED 736995 SP7 Sp7 transcription factor This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010] 12 12 12 q13.13 53369632 53379307 - 53720359 53730167 - 53326575 53336220 - 727208;1580863;6480464;8699517;7240710;8554872 11792318 12477932;12674332;14604442;15474293;15489334;16467978;17206379;17303075;17311298;17352693;18471237;18482578;18495459;18777089;18829486;18932205;19019468;19079262;19453261;19801982;19927124;20200978;20579626;21078438;21212767;21351630;21558934;21777568;21880893;21898406;21931789;22056560;22467200;22504420;22869368;23159876;23402759;23457570;23620590;23827457;24387671 121340 F8VV67;Q8TDD2 ABBA01008325;AC073611;AF466179;AF477981;AK128520;AMYH02026517;AY150673;AY150674;BC101549;BC113613;CH471054;HY020346;NG_023391;NM_001173467;NM_001300837;NM_152860;XM_005268643 AAI01550;AAI13614;AAL84281;AAN85556;AAN85557;AAO33377;ABZ92092;BAG54688;EAW96695;EAW96696;EAW96697;NP_001166938;NP_001287766;NP_690599;Q8TDD2;XP_005268700 Hs.209402;Hs.742807 1339529;1792660;1793768 D12S1604;PMC156282P2;PMC280673P1 MGC126598;OI11;OI12;OSX OTTHUMP00000242639;OTTHUMP00000242702;osterix;transcription factor Sp7;zinc finger protein osterix APPROVED protein-coding ENSG00000170374 HGNC:17321 05971 606633;613849 REVIEWED 1318302 SP5 Sp5 transcription factor ENCODES a protein that exhibits metal ion binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN bone morphogenesis (inferred); post-anal tail morphogenesis (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; bilirubin 2 2 2 q31.1 165188525 165191166 + 171571857 171574498 + 170715347 170717988 + 6480464 12477932;15146197;15820306;16201967;16380080 389058 Q6BEB4 AB096175;ABBA01014917;AC007405;AMYH02005208;AW450640;BC069026;BQ064677;CH471058;CN275885;NM_001003845;XM_005246542 AAI72750;BAD34944;EAX11238;EAX11239;NP_001003845;Q6BEB4;XP_005246599 Hs.368802 OTTHUMP00000204954;transcription factor Sp5 protein-coding ENSG00000204335 HGNC:14529 18088 609391 VALIDATED 2303677 SP9 Sp9 transcription factor ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN embryonic limb morphogenesis (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); C60 fullerene (ortholog) 2 2 2 q31.1 168813313 168815760 + 175199769 175205859 + 174335093 174337540 + 6480464 15815621 100131390 P0CG40 ABBA01062187;AC018470;AMYH02005271;CH471058;NM_001145250 EAX11147;NP_001138722;P0CG40 Hs.516603 ZNF990 OTTHUMP00000197236;Sp9 transcription factor homolog;Transcription factor Sp9;zinc finger protein 990 APPROVED protein-coding HGNC:30690 PROVISIONAL 1351516 SPA17P1 sperm autoantigenic protein 17 pseudogene 1 10 10 10 q22.2 70431544 70432237 - 77141968 77142661 - 75382210 75382903 - 12393185;22747683 171424 ABBA01020254;AC010997;AF335424;AMYH02023366;NG_001328 Sp17-2 pseudo HGNC:23224 INFERRED 1353517 SPA17 sperm autoantigenic protein 17 This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding motif. The central portion of the protein has carbohydrate binding motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. A retrotransposed pseudogene is present on chromosome 10q22.[provided by RefSeq, Jan 2009] 11 11 11 q24.2 121703917 121724867 + 124543740 124564690 + 124673844 124694794 + 1580863;6480464 10591629;11415432;12213290;12393185;12477932;12530914;12739786;14566839;14712480;15257753;15381930;15489334;16344560;17230514;18421703;18779750;19604394;19685492;19744347;20712874;21139048;23137323;23923079;24103781;7525387;7578682;8688458;9378618 53340 Q05D07;Q15506 ABBA01031254;AF334735;AF334810;AK307271;AK311806;AMYH02025724;AP000890;AP001524;BC019224;BC032457;CH471065;DA511916;NM_017425 AAH19224;AAH32457;AAK20878;AAK28125;BAG34749;EAW67592;NP_059121;Q15506 Hs.286233 1700996;2123192 031XG1;RH104125 CT22;SP17;SP17-1 OTTHUMP00000231527;OTTHUMP00000231528;cancer/testis antigen 22;sperm protein 17;sperm surface protein Sp17 APPROVED protein-coding ENSG00000064199 HGNC:11210 12272 608621 REVIEWED 1344211 SPACA1 sperm acrosome associated 1 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008] 6 6 6 q15 89175410 89194450 + 88757507 88776550 + 88047789 88066832 + 6480464 10735589;10898932;11870081;12477932;14574404;15489334;17903301;20424473 81833 Q9HBV2 ABBA01040515;AF203447;AL136096;AMYH02014065;BC029488;CH471051;HC007290;NM_030960;XR_241854 AAG31422;AAH29488;CBH19450;EAW48577;NP_112222;Q9HBV2 Hs.161241 2219708 SPACA1_3626 MGC32952;SAMP32 OTTHUMP00000016837;sperm acrosomal membrane-associated protein 32;sperm acrosome membrane-associated protein 1 APPROVED protein-coding ENSG00000118434 HGNC:14967 15419 612739 VALIDATED 1315441 SPACA3 sperm acrosome associated 3 ENCODES a protein that exhibits lysozyme activity; INVOLVED IN cell wall macromolecule catabolic process (inferred); defense response to Gram-positive bacterium (inferred); monocyte activation (inferred); FOUND IN lysosome; secretory granule; INTERACTS WITH lead diacetate (ortholog); paracetamol (ortholog) 17 17 17 q11.2 28229875 28235888 + 31318882 31324895 + 32991864 32997874 + 1580863;6480464 11591365;12477932;12606493;12975309;15475442;15489334;16014814;16150577;19945174;21139048;3470418;5154881 124912 E9PF91;Q05C28;Q8IXA5 ABBA01000735;ABBA01000736;AC003687;AF099029;AF216311;AMYH02033328;AY358653;BC029867;BC100886;BC100887;CH471147;NM_173847 AAH29867;AAI00887;AAI00888;AAK01478;AAP97222;AAQ89016;EAW80217;EAW80218;NP_776246;Q8IXA5 Hs.434112 1700025M08Rik;ALLP17;CT54;LYC3;LYZL3;MGC119058;SLLP1 OTTHUMP00000163796;OTTHUMP00000163797;OTTHUMP00000163798;cancer/testis antigen 54;lysozyme-like acrosomal sperm-specific secretory protein ALLP-17;lysozyme-like protein 3;lysozyme-like sperm-specific secretory protein ALLP17;sperm acrosome membrane-associated protein 3;sperm lysozyme like protein 1;sperm lysozyme-like protein 1;sperm lyzozyme-like acrosomal protein 1;sperm protein reactive with ASA;sperm protein reactive with antisperm antibodies protein-coding ENSG00000141316 HGNC:16260 15420 612749 PROVISIONAL 1343720 SPACA4 sperm acrosome associated 4 INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN anchored component of membrane (inferred); cytoplasmic vesicle (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.33 45974868 45975839 + 49110000 49110971 + 48606743 48607714 + 6480464;8554872 12477932;12788941;12975309;15489334 171169 Q8TDM5 ABBA01032981;AC022154;AF353721;AMYH02036304;AY358387;BC047334;CH471177;CS072277;HC007292;HC044583;NM_133498 AAH47334;AAL83950;AAQ88753;CAI93415;CBH19451;CBH30621;EAW52357;NP_598005;Q8TDM5 Hs.122599 SAMP14 sperm acrosomal membrane protein 14;sperm acrosomal membrane-associated protein 14;sperm acrosome membrane-associated protein 4 protein-coding ENSG00000177202 HGNC:16441 15421 609932 VALIDATED 1346531 SPACA5 sperm acrosome associated 5 ENCODES a protein that exhibits lysozyme activity (inferred); INVOLVED IN cell wall macromolecule catabolic process (inferred); FOUND IN extracellular region (inferred) X X X p11.23 52182559 52187955 + 47863734 47869130 + 48004336 48009824 + 12975309;16382448;24250222 389852 Q96QH8 AC244636;AF217622;AMYH02039291;AX359709;AY358844;BX279755;CH471164;NM_205856;XM_006724530;XM_006724531;Z98304 AAQ13890;AAQ89203;CAD23344;EAW59341;NP_995328;Q96QH8;XP_006724593;XP_006724594 Hs.319319;Hs.712503 1702042 DXS6616 LYC5;LYZL5;PNPK6288;SLLP-X;SLLP2;SPACA5B;UNQ6288;dJ54B20.3 OTTHUMP00000023232;Sperm Lysozyme-Like Protein 2;lysozyme-like protein 5;sperm acrosome-associated protein 5;sperm-specific lysozyme-like protein X protein-coding ENSG00000171489 HGNC:31353 10159 300593 VALIDATED 1314926 SP140 SP140 nuclear body protein ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); zinc ion binding (inferred); INVOLVED IN defense response (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); nuclear envelope (inferred); nucleoplasm (inferred); INTERACTS WITH fonofos; paclitaxel; parathion 2 2 2 q37.1 224866569 224954088 + 231090445 231177930 + 230225730 230314407 + 1580863;6480464;8554872 11331592;12368356;12477932;12887892;18029348;18758461;19149577;20332261;20731705;21102463;21833088;22505724;22700719;23128233;23770605;24292274;8695863;8910577 11262 B4DVW8;Q0VGE4;Q13342;Q8IWJ1;U3KPV9 AA741304;ABBA01050128;ABBA01050129;ABBA01050130;AC009949;AC009950;AK301267;AK301317;AMYH02005951;BC038091;BC054890;BC070160;BC105743;BC105744;BC105960;CH471063;DC391925;NM_001005176;NM_001278451;NM_001278452;NM_001278453;NM_007237;U36499;U36500;U63420;XM_005246252;XM_005246253;XM_005246254;XM_005246255;XM_005246256;XM_005246257;XM_005246258;XM_006712223;XM_006712224;XM_006712225;XM_006712226;XR_241278 AAB18616;AAB18617;AAC50817;AAH38091;AAH54890;AAH70160;AAI05744;AAI05745;AAI05961;AAX88868;AAX93282;BAG62830;BAG62868;EAW70920;EAW70921;EAW70922;NP_001005176;NP_001265380;NP_001265381;NP_001265382;NP_009168;Q13342;XP_005246309;XP_005246310;XP_005246311;XP_005246312;XP_005246313;XP_005246314;XP_005246315;XP_006712286;XP_006712287;XP_006712288;XP_006712289 Hs.632549 1340264;1651001;1685233;2108517;2170830;7187481 D2S172;RH18044;SHGC-34902;SHGC-401;SP140_9249 LYSP100;LYSP100-A;LYSP100-B;MGC126440 OTTHUMP00000204294;OTTHUMP00000204295;OTTHUMP00000204296;OTTHUMP00000207180;lymphoid-restricted homolog of Sp100;lymphoid-specific SP100 homolog;nuclear autoantigen Sp-140;nuclear body protein SP140;speckled 140 kDa protein-coding ENSG00000079263 HGNC:17133 09780 608602 VALIDATED 2301581 SPACA6P sperm acrosome associated 6, pseudogene INTERACTS WITH copper(2+) sulfate 19 19 19 q13.41 49246128 49257979 + 52196593 52208443 + 51693340 51705190 + 6480464 12477932;12975309;14702039 147650 ABBA01068265;AC018755;AK024362;AMYH02036391;AY358799;BC041134;BC104208;BC104209;CH471135;KF751883;NR_024330 AAI04209;AAQ89159;AHI16960;EAW72035;EAW72036;EAW72037 Hs.467174 2123411;5493641 RH48555;UniSTS:490085 LINC00085;MGC125919;MGC125920;NCRNA00085;SPACA6 APPROVED ncrna ENSG00000182310 HGNC:27113 17301 VALIDATED 1606982 SPACA7 sperm acrosome associated 7 ASSOCIATED WITH Melanoma (inferred); FOUND IN acrosomal vesicle; INTERACTS WITH lead(0); lead(2+) 13 13 13 q34 93856057 93914326 + 113030649 113089009 + 112375860 112434695 + 6480464;8554872 12477932;15057823;15489334;20379614;22495889 122258 Q5T8L4;Q5T8L5;Q5T8L6;Q96KW9 ABBA01019846;AI219896;AK130866;AL160033;AMYH02028727;BC016750;CH471085;NM_145248;XM_005268294;XM_005268295;XM_005268296;XM_005268297;XM_006719962;XM_006725153;XM_006725154;XM_006725155;XM_006725156;XM_006725157 AAH16750;EAX09162;NP_660291;Q96KW9;XP_005268351;XP_005268352;XP_005268353;XP_005268354;XP_006720025;XP_006725216;XP_006725217;XP_006725218;XP_006725219;XP_006725220 Hs.97592 1777228 D13S1187 C13orf28;FLJ27356 OTTHUMP00000018722;OTTHUMP00000018725;protein SPACA7;putative uncharacterized protein C13orf28;sperm acrosome-associated protein 7 APPROVED protein-coding ENSG00000153498 HGNC:29575 14022 VALIDATED 1316919 SP8 Sp8 transcription factor The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 7 7 7 p21.2 20807385 20812013 - 20821894 20826508 - 20782274 20786889 - 1580863;6480464 12477932;14597661;14702039;15489334;15533246;16344560;20211142;20339536;20386566;20634891;23535732;23967141 221833 A8K350;Q8IXZ3 ABBA01056676;AC005060;AC005251;AI632278;AK056857;AK290465;AK299947;AK307969;AMYH02015339;AY167047;AY167048;BC038669;CH236948;CH471073;DA492955;DA497089;KF511006;NG_029244;NM_182700;NM_198956 AAH38669;AAO38028;AAO38029;BAB71297;BAF83154;BAG61776;EAW93729;EAW93730;EAW93731;EAW93732;NP_874359;NP_945194;Q8IXZ3 Hs.195922 BTD OTTHUMP00000120017;OTTHUMP00000202034;specificity protein 8;transcription factor Sp8 APPROVED protein-coding HGNC:19196 12208 608306 REVIEWED 1348100 SP100 SP100 nuclear antigen This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011] 2 2 2 q37.1 225057025 225186692 + 231280871 231410317 + 230416156 230545602 + 1580863;6480464 10212234;10766566;10921892;11112690;11313457;11574059;11716541;11792325;11909962;12477932;14647468;14702039;15017387;15247905;15489334;15592518;15608651;15767676;15882967;16177824;16189514;16344560;16415175;16524884;16873258;17000644;17081983;17245429;17332504;17491593;18029348;18691969;19279115;19471022;20130140;20211142;20379614;20512085;20805487;20936779;21044950;21172801;21252943;21274506;21383994;21471311;21693764;21734036;21779164;21880768;21890473;21906983;21988832;22086178;22278248;22419217;2258622;22863883;22939629;23000965;23221561;23485562;23830076;23867815;24089549;24194542;24623443;24637324;24654937;25027693;8695863;8810287;9230084;9412458;9636146;9636147;9973607 6672 C9JBL0;E9PHV6;H0Y4R8;H7C1G8;H7C4B4;P23497;Q6ZMK3 AA810108;ABBA01050126;ABBA01050127;ABBA01050128;AC009949;AC010149;AF056322;AF076675;AF146342;AF255565;AF378670;AI886092;AK090565;AK091898;AK126529;AK160379;AK293373;AK304205;AMYH02005951;AMYH02005952;AMYH02005953;AMYH02005954;AW978040;BC011562;CH471063;CR749288;DA442074;DA562355;L79986;L79987;L79988;L79989;M60618;NG_029842;NM_001080391;NM_001206701;NM_001206702;NM_001206703;NM_001206704;NM_003113;U36501;X95472 AAA35537;AAC39790;AAC50743;AAF39781;AAF43098;AAH11562;AAK51202;AAK57703;AAL77438;AAL77439;AAL77440;AAL77441;AAX88870;AAY14879;BAD18722;BAG56886;BAG65081;CAA64744;CAH18143;EAW70927;EAW70928;EAW70929;NP_001073860;NP_001193630;NP_001193631;NP_001193632;NP_001193633;NP_003104;P23497 Hs.369056 1668181;1676928;1757289;1773426;1773870;1794794;1794796;1920252;2123586;2157297;2182535;5015881;5037552 D2S2624;D2S2641;D8S2279;GDB:335751;PMC56901P1;PMC56901P2;REN30944;RH68107;RH70945;RH93607;SHGC-144697;SHGC-60177;WIAF-2192 DKFZp686E07254;FLJ00340;FLJ34579;lysp100b OTTHUMP00000164262;OTTHUMP00000204340;OTTHUMP00000204342;OTTHUMP00000204343;OTTHUMP00000204344;OTTHUMP00000204345;SP100-HMG nuclear autoantigen;nuclear autoantigen Sp-100;nuclear dot-associated Sp100 protein;speckled 100 kDa APPROVED protein-coding ENSG00000067066 HGNC:11206 06844 604585 REVIEWED 1603416 SPACA5B sperm acrosome associated 5B ENCODES a protein that exhibits lysozyme activity (inferred); INVOLVED IN cell wall macromolecule catabolic process (inferred); FOUND IN extracellular region (inferred) X X X p11.23 52185995 52187951 + 47990039 47991995 + 48130657 48132613 + 12975309;15772651;16382448 729201 Q96QH8 ABBA01052437;AC244636;AF217622;AL356464;AMYH02039292;AY358844;NM_001079900 AAQ13890;AAQ89203;CAI40526;NP_001073369;Q96QH8 Hs.319319;Hs.712503 SLLP-X;SPACA5 OTTHUMP00000023238;lysozyme-like protein 5;sperm acrosome-associated protein 5;sperm-specific lysozyme-like protein X protein-coding ENSG00000171478 HGNC:19142 PROVISIONAL 1321762 SPAG1 sperm associated antigen 1 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008] 8 8 8 q22.2 97355644 97439501 + 101170263 101254132 + 100158035 100241904 + 1580863;6480464;8699517;7240710;8554872 10527845;11517287;12477932;12509440;12846798;1299558;14702039;15489334;16344560;16368546;16983343;20849852;21139048;23314748;24055112;8849440;8889548;9138444 6674 Q07617 ABBA01037564;ABBA01037565;ABBA01037566;ABBA01037567;AC025647;AF311312;AI624411;AK057482;AMYH02018500;AMYH02018501;AMYH02018502;AMYH02018503;AMYH02018504;BC055091;BM557203;BM981630;BX480304;CH471060;DB028984;KF458812;KF458813;NG_033834;NM_003114;NM_172218;XM_006716619;XM_006716620 AAG23967;AAH55091;BAG51920;EAW91800;EAW91801;EAW91802;EAW91803;EAW91804;EAW91805;EAW91806;NP_003105;NP_757367;Q07617;XP_006716682;XP_006716683 Hs.591866 1765607;2108519;2153566;2181137 D8S1602;SHGC-149057;SHGC-31092;SPAG1_8638 CILD28;CT140;FLJ32920;HSD-3.8;SP75;TPIS OTTHUMP00000227270;TPR-containing protein involved in spermatogenesis;infertility-related sperm protein Spag-1;sperm-associated antigen 1;tetratricopeptide repeat-containing protein APPROVED protein-coding ENSG00000104450 HGNC:11212 04548 603395;615505 REVIEWED 1352459 SPAG10 sperm associated antigen 10 1580863 9546740 54740 P78328 Y11718 CAA72405;P78328 hP47 protein-coding HGNC:14528 1604666 SPAG11A sperm associated antigen 11A INVOLVED IN defense response (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH phosphorus atom; phosphorus(.) 8 8 8 p23.1 1803 4646 - 7705209 7721319 + 7847688 7863797 + 6480464 10698202;11259252;12477932;16421571;8167223 653423 C9IZU7;C9JP82;H0YEK6;J3KR45;Q6PDA7 ABBA01226780;AC130365;AF168618;AF168619;AF168620;AF170797;AMYH02017343;AMYH02017344;AMYH02017345;BC058833;BC125141;NM_001081552;XM_005272391;XM_005272392;XM_005272393 AAF37188;AAF37189;AAF37190;AAF37191;AAH58833;NP_001075021;Q6PDA7;XP_005272448;XP_005272449;XP_005272450 Hs.559506 1681249;1786570;1786602;2135579;2144718 D8S2060;RH92070;SHGC-11992;SHGC-132077;SHGC-143062 EDDM2A;HE2 OTTHUMP00000222025;OTTHUMP00000222026;epididymal protein 2A;human epididymis-specific protein 2;sperm antigen HE2;sperm-associated antigen 11A protein-coding ENSG00000178287 HGNC:33342 VALIDATED 1601710 SPAG17 sperm associated antigen 17 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH valproic acid; lead diacetate (ortholog); titanium dioxide (ortholog) 1 1 1 p12 116723952 116955535 - 118496288 118727848 - 117953665 118185225 - 6480464;8554872 12477932;14702039;15827353;16344560;18029348;18391952;18559567;19266077;19893584;20546612;20846217;20881960;23251661;23563607;23708190 200162 Q5TDG6;Q6Q759 ABBA01068504;ABBA01068505;ABBA01068506;AK091816;AK126319;AK126327;AL121993;AL137581;AL139345;AL513191;AL833485;AMYH02001801;AY555274;BC043251;BX648110;DB060943;HM370394;NM_206996;XM_006710426;XM_006710427;XM_006710428;XM_006710429;XM_006710430;XM_006710431 AAI48428;AAS66753;ADM86747;BAC03753;BAG54308;CAB70823;NP_996879;Q6Q759;XP_006710489;XP_006710490;XP_006710491;XP_006710492;XP_006710493;XP_006710494 Hs.528821 1336043;1692244;2107769;2170215;2177954;2182142;2219492 AL009508;AL009658;AL033783;D1S2669;PF6__5669;UniSTS:64952;WDR3__5087 CT143;DKFZp434B0610;FLJ34497;FLJ44343;FLJ44353;PF6;RP4-776P7.2 OTTHUMP00000014052;projection protein PF6 homolog;sperm-associated antigen 17 protein-coding ENSG00000155761 HGNC:26620 10146 VALIDATED 1352554 SPAG11B sperm associated antigen 11B This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 2362 4646 - 7305276 7321192 - 7447754 7463670 - 1580863;6480464 10698202;10819450;11259252;12193388;12477932;14662784;15229135;1693137;19535787;21933954;8167223;8418812 10407 A8MZA0;H0YF39;Q08648;Q6PDA7 AA694479;ABBA01152677;AC130360;AC246795;AF168616;AF168617;AF252830;AJ628017;AJ635328;AY005129;NG_029571;NM_016512;NM_058200;NM_058201;NM_058202;NM_058203;NM_058206;NM_058207 AAF37186;AAF37187;AAG21878;AAG21879;AAG21880;AAG21881;AAG21882;AAG21883;AAG21884;AAG21885;AAG21886;AAI60085;CAF31328;CAG25732;NP_057596;NP_478107;NP_478108;NP_478109;NP_478110;NP_478113;NP_478114;Q08648 Hs.2717 1681249;1786570;1786602;2135579;2144718 D8S2060;RH92070;SHGC-11992;SHGC-132077;SHGC-143062 EDDM2B;EP2;EP2C;EP2D;HE2;HE2C;MGC61846;SPAG11 OTTHUMP00000159517;OTTHUMP00000159518;OTTHUMP00000159596;OTTHUMP00000159597;OTTHUMP00000229575;OTTHUMP00000229576;OTTHUMP00000229577;epididymal protein 2;epididymal protein 2B;human epididymis-specific protein 2;sperm antigen HE2;sperm associated antigen 11;sperm-associated antigen 11B APPROVED protein-coding ENSG00000164871 HGNC:14534 07583 606560 REVIEWED 1352269 SPAG16 sperm associated antigen 16 Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008] 2 2 2 q34 207912975 209043467 + 214149103 215275225 + 213284379 214410501 + 1580863;6480464;8554872 11867345;12391165;12477932;14702039;15328412;15489334;17699735;20379614;20463177;22082156;22963137;23251661;23824909;24152035;24204828;8889548 79582 B4DYB5;E7EWV3;E9PE90;F8WB32;F8WBQ0;F8WBY1;H0Y811;Q4G1A2;Q8N0X2 ABBA01062771;ABBA01062772;ABBA01062773;ABBA01062774;ABBA01062775;ABBA01062776;ABBA01062777;ABBA01062778;ABBA01062779;ABBA01062780;ABBA01062781;AC008169;AC008279;AC009964;AC024246;AC064841;AC079610;AC092618;AC093042;AC096565;AC098486;AC107218;AC114499;AC125244;AC131096;AF310672;AF426740;AF490390;AK026377;AK095036;AK302351;AK310883;AL832962;AMYH02005715;AMYH02005716;AMYH02005717;AMYH02005718;AMYH02005719;AMYH02005720;AMYH02005721;AMYH02005722;AMYH02005723;AMYH02005724;AMYH02005725;AMYH02005726;AMYH02005727;AMYH02005728;AMYH02005729;AMYH02005730;AMYH02005731;AMYH02005732;AW207406;BC009614;BC025379;BC067756;BC100282;CA313710;CH471063;CR457359;CR749477;KF456760;KF456761;KF456762;KF456763;KF456764;KF456766;KF456768;KF573674;NM_001025436;NM_024532;NR_047659;NR_047660;XM_006712744;XM_006712745;XM_006712746;XM_006712747 AAH09614;AAH25379;AAH67756;AAI00283;AAM63956;AAM97147;AAN63530;AAX93063;AAX93092;AAX93125;AAX93264;AAY14888;AAY24171;AAY24242;BAB15466;BAC04481;BAG63677;CAG33640;CAH18307;CAH56274;EAW70515;NP_001020607;NP_078808;Q8N0X2;XP_006712807;XP_006712808;XP_006712809;XP_006712810 Hs.743365 1298289;1331574;1337195;1338825;1340770;1341635;1664069;1664817;1678117;1679720;1695204;1704474;1705540;1734888;1747807;1773711;1774748;1784034;1787520;2172379;2186377;7185487 A004I11;D14S1164;D1S1649;D2S128;D2S1327;D2S1345;D2S1656E;D2S2048;D2S2319;D2S334;EV98Mn;G16506;G66878;RH79632;SHGC-144363;SHGC-155580;SHGC-62913;SHGC-763;SHGC-82984;SHGC-83870;WI-18681 DKFZp666P1710;FLJ22724;FLJ37717;MGC87036;PF20;WDR29 OTTHUMP00000163972;OTTHUMP00000206695;OTTHUMP00000206700;WD repeat domain 29;pf20 protein homolog;sperm-associated WD repeat protein;sperm-associated antigen 16 protein APPROVED protein-coding ENSG00000144451 HGNC:23225 18089 612173 VALIDATED 734255 SPAG4 sperm associated antigen 4 The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 30952104 30957260 + 34203776 34208967 + 35615854 35621049 + 730131;1580863;6480464 9691178 10373309;11076863;11780052;12477932;14614621;22990118;23602831 6676 C9JJZ6;Q5JX49;Q9NPE6 ABBA01019153;AF043344;AF262992;AF262993;AL109827;AMYH02037005;BC143783;CH471077;NM_003116;XM_005260519;XM_005260520;XM_005260521;XM_006723864 AAC32052;AAF75267;AAF75268;AAI11379;CAB87609;EAW76191;NP_003107;Q9NPE6;XP_005260576;XP_005260577;XP_005260578;XP_006723927 Hs.123159 1749363;1814824;1815298;1816272;1816436;1820104;1838566;1841062;1842958;1975110;1975112;1975114;1975116;1975118;1975120;1975122;1975124;1975126;1975128;1975130;1975132;1975134;1975136;1975138;1975140;1975142;1975144;1975146;1975148;1975150;1975152;1975154;1975156;1975158;1975160;1975162;1975164;1975166;1975168;1975170;2215490;2215492;2215494;2215496 ECD08443;ECD08685;ECD09178;ECD09260;ECD11125;ECD20457;ECD21724;ECD22687;REN58441;REN58442;REN58443;REN58444;REN58445;REN58446;REN58447;REN58448;REN58449;REN58450;REN58451;REN58452;REN58453;REN58454;REN58455;REN58456;REN58457;REN58458;REN58459;REN58460;REN58461;REN58462;REN58463;REN58464;REN58465;REN58466;REN58467;REN58468;REN58469;REN58470;REN58471;SHGC-111118;stSG636739;stSG636741;stSG636742;stSG636743 CT127;SUN4 OTTHUMP00000030768;OTTHUMP00000204168;SUN domain-containing protein 4;Sad1 and UNC84 domain containing 4;acrosomal protein ACR55;cancer/testis antigen 127;outer dense fiber-associated protein SPAG4;sperm antigen 4;sperm tail protein;sperm-associated antigen 4 protein APPROVED protein-coding ENSG00000061656 HGNC:11214 04330 603038 REVIEWED 5490491 SPAG5-AS1 SPAG5 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 17 17 17 23784835 23803706 + 26926151 26944395 + 28599133 28617377 + 8554872 100506436 ABBA01015052;AC005726;AK098638;AL157421;AMYH02033223;AMYH02033224;BC001556;BG723958;BX089040;DB457167;NR_040012 Hs.743630 1667701;1678601;1683150;1734434;1847515;2123029;2166045 D17S1405E;G19761;RH10564;RH25327;SHGC-12628;SHGC-31911;SHGC-32514 DKFZp434K129 APPROVED ncrna HGNC:41140 VALIDATED 1313520 SPAG7 sperm associated antigen 7 ENCODES a protein that exhibits nucleic acid binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; diazinon; valproic acid 17 17 17 p13.2 4877332 4885943 - 4862521 4871132 - 4959226 4967837 - 1298632;1580863;6480464 9653160 11042152;12477932;14667819;15342556;15489334;18029348;21139048;21890473;24816145;7624517 9552 I3L0Q5;I3L0X5;I3L4C3;O75391 ABBA01054784;ABBA01054785;AC004771;AC109333;AF047437;AK123065;AK312174;AMYH02032838;BC007819;BC011934;BP308951;NM_004890;XM_005256865;XM_006721600 AAC39888;AAH11934;NP_004881;O75391;XP_005256922;XP_006721663 Hs.90436 1698914;2218746;5022921;5491298 CAMTA2__4500;MARC4001-4002;RH103026;ksks155 ACRP;FSA-1;MGC20134 sperm-associated antigen 7 protein-coding ENSG00000091640 HGNC:11216 10247 610056 VALIDATED 1316057 SPAG8 sperm associated antigen 8 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012] 9 9 9 p13.3 35741314 35745791 - 35807782 35812269 - 35807785 35812272 - 6480464 10500252;11111865;11111873;12477932;15014887;15164053;15489334;16713569;17187156;19548270;19953087;20488182;23455924;24250222;24722188;8788182;8889548;9138444 26206 C9JAA8;F2Z302;F8WBP3;H7C4J6;Q99932 ABBA01064984;AI028727;AK302313;AL133410;AMYH02019466;BC019247;BI757195;CA314354;CH471071;NM_001039592;NM_172312;S83157;U12978;XM_005251436;XM_005251437;XM_005251438;XM_006716753 AAA21129;AAB46833;AAH19247;ABM81724;ABW03304;BAG63651;EAW58335;EAW58336;NP_001034681;NP_758516;Q99932;XP_005251493;XP_005251494;XP_005251495;XP_006716816 Hs.256747 1850417;2107445;2143753;2181442 NPR2_7842;RH41893;SHGC-12605;STS-S83157 BS-84;CILD28;CT142;HSD-1;MGC26201;SMP1;SPAG3;hSMP-1 OTTHUMP00000021352;OTTHUMP00000215542;OTTHUMP00000215543;OTTHUMP00000215544;OTTHUMP00000215545;sperm membrane protein 1;sperm membrane protein BS-84;sperm-associated antigen 8 APPROVED protein-coding ENSG00000137098 HGNC:14105 12039 605731 REVIEWED 736242 SPAG5 sperm associated antigen 5 This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 23763610 23785083 - 26904583 26926056 - 28577565 28599038 - 1580863;6480464 11468777;11549262;11724960;12356910;12477932;15489334;15504738;16169070;16343815;16546135;16565220;16713569;17383637;17664331;18029348;18055457;18361916;19197158;20360068;20508983;20805509;20852589;21139048;21890473;22190034;22773063;23953116;24163370;24722188;24816145 10615 F5GZT2;J3KSV2;J3KTQ0;J3QRL6;J3QRV8;J3QS12;K7ELC8;K7ELG0;Q96R06 ABBA01015052;AC005726;AF063308;AF345347;AF399910;AK025725;AK292398;AL122116;AL137585;AMYH02033223;BC000322;BC113055;BI459711;BQ773438;CH471159;NM_006461 AAD02813;AAH00322;AAI13056;AAK91712;AAL06396;BAF85087;CAB59275;CAB70827;EAW51106;NP_006452;Q96R06 Hs.514033 1663727;1684878;1698818;5024543 D1S3690;G21480;RH102973;RH79796 MAP126;hMAP126 DEEPEST;OTTHUMP00000233592;astrin;mitotic spindle associated protein p126;mitotic spindle coiled-coil related protein;mitotic spindle-associated protein p126;sperm-associated antigen 5 APPROVED protein-coding ENSG00000076382 HGNC:13452 10246 615562 REVIEWED 1313749 SPAG6 sperm associated antigen 6 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p12.2 22322124 22394264 + 22634345 22706539 + 22345416 22417610 + 1580863;6480464;8554872 10493827;10684790;11076863;11230166;11256614;12167721;12391165;12477932;12509440;15164054;15489334;15489336;16344560;16381901;16385451;20668334;21832049;24250222;9138444;9295136 9576 O75602 ABBA01034478;ABBA01034479;ABBA01034480;AF079363;AK289903;AK302194;AK310247;AL080136;AL158211;AL513128;AMYH02022435;AMYH02022436;AMYH02022437;BC030585;BI561430;CH471072;CR533552;DB025758;DB057157;HM370395;NM_001253854;NM_001253855;NM_012443;NM_172242;XM_005252645;XM_005252646 AAC32590;AAH30585;ABM81842;ABM84993;ADM86748;BAF82592;BAG63556;CAB45730;CAG38583;CAL37552;CAL37576;EAW86143;EAW86144;EAW86145;EAW86146;EAW86147;NP_001240783;NP_001240784;NP_036575;NP_758442;O75602;XP_005252702;XP_005252703 Hs.655170 1665688;2143708 D10S1599;SHGC-30672 CT141;DKFZp434I153;MGC26276;Repro-SA-1;pf16 OTTHUMP00000019296;OTTHUMP00000019297;axoneme central apparatus protein;protein PF16 homolog;sperm flagellar protein;sperm-associated antigen 6 APPROVED protein-coding ENSG00000077327 HGNC:11215 09305 605730 REVIEWED 1351593 SPANXA2 SPANX family, member A2 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A1 and appears to be a duplication of that locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008] X X X q27.1 141072897 141073962 - 140677835 140678899 + 141589708 141590772 + 10906052;11133693;12477932;12758128;14734458;14973187;16251457;16712791;17012309;20073942 728712 Q9NS26 AC235097;AF098306;AJ238277;AJ457794;AK225988;AL121881;AMYH02040669;AY920732;AY920733;AY920735;AY920736;AY920737;AY920738;AY920739;AY920741;AY920742;AY920743;AY920744;AY920745;AY920746;BC054023;BC069393;BC069816;CB110020;CB113891;DQ994201;DQ994202;DQ994203;DQ994204;DQ994205;DQ994206;DQ994207;DQ994208;DQ994209;DQ994210;NM_145662 AAF28420;AAH54023;AAH69393;AAH69816;AAY16548;AAY16549;AAY16551;AAY16552;AAY16553;AAY16554;AAY16555;AAY16557;AAY16558;AAY16559;AAY16560;AAY16561;AAY16562;ABN68940;ABN68941;ABN68942;ABN68943;ABN68944;ABN68945;ABN68946;ABN68947;ABN68948;ABN68949;ABZ92539;CAB75344;CAD19068;CAD29843;NP_663695;Q9NS26 Hs.334464;Hs.558533;Hs.711784 CT11.1;SPAN-X;SPANX;SPANX-A;SPANXA1 OTTHUMP00000024180;SPANX family member A;SPANXA;cancer/testis antigen 11.1;nuclear-associated protein SPAN-Xa;sperm protein associated with the nucleus on the X chromosome A;sperm protein associated with the nucleus, X chromosome, family member A2 APPROVED protein-coding HGNC:14328 06720 300493 REVIEWED 1605147 SPANXA2-OT1 SPANXA2 overlapping transcript 1 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate X X X q27.2 140901924 141023911 + 140590843 140738069 + 141502849 141649939 + 6480464 14702039;16344560 619455 Q8N9U9 ABBA01066189;ABBA01066190;ABBA01066191;AC234774;AC235097;AC240443;AK093505;AL050308;AL121881;AMYH02040652;AMYH02040653;AMYH02040654;AMYH02040655;AMYH02040656;AMYH02040657;AMYH02040658;AMYH02040659;AMYH02040660;AMYH02040661;AMYH02040662;AMYH02040663;AMYH02040664;AMYH02040665;AMYH02040666;AMYH02040667;AMYH02040668;AMYH02040669;DA220378;LK937825;NR_037183 Q8N9U9 Hs.590784 1694392;1701972;1717159;1757517;1789711;5022578 D1S1423;DXS1341;G42891;RH121502;SHGC-144953;Xq4094 CXorf18;FLJ36186 APPROVED ncrna HGNC:31683 VALIDATED 7388517 SPACA6P-AS SPACA6P antisense RNA 19 q13.41 51685363 51693456 - 102238594 ABBA01068265;ABBA01068266;ABBA01068267;AC018755;AK125996;AMYH02036391;NR_108100 Hs.640185 LINC01129 APPROVED ncrna ENSG00000269959 HGNC:49383 VALIDATED 1342995 SPANXA1 sperm protein associated with the nucleus, X-linked, family member A1 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008] X X X q27.1 141072907 141073938 - 140671806 140672836 - 141583684 141584714 - 1580863;6480464 10626816;10906052;11133693;12477932;12758128;14734458;14973187;15489334;15772651;16251457;16390498;17012309;20073942;8125298 30014 Q4KRP5;Q9NS26 AC235097;AF098306;AI208372;AJ238277;AK225988;AL121881;AMYH02040669;AY787120;AY787123;AY920732;AY920733;AY920735;AY920736;AY920737;AY920738;AY920739;AY920741;AY920742;AY920743;AY920744;AY920745;AY920746;BC054023;BC069393;BC069816;CB115288;CH471170;DQ994201;DQ994202;DQ994203;DQ994204;DQ994205;DQ994206;DQ994207;DQ994208;DQ994209;DQ994210;NM_013453 AAF28420;AAH54023;AAH69393;AAH69816;AAI41463;AAI48760;AAW47342;AAW47345;AAY16548;AAY16549;AAY16551;AAY16552;AAY16553;AAY16554;AAY16555;AAY16557;AAY16558;AAY16559;AAY16560;AAY16561;AAY16562;ABN68940;ABN68941;ABN68942;ABN68943;ABN68944;ABN68945;ABN68946;ABN68947;ABN68948;ABN68949;CAB75344;CAI42369;EAW78007;NP_038481;Q9NS26 Hs.334464;Hs.558533 CT11.1;NAP-X;SPAN-X;SPAN-Xa;SPAN-Xb;SPANX;SPANX-A;SPANX-A2;SPANX-C;SPANX-D;SPANXA2;SPANXC;SPANXD OTTHUMP00000024179;SPANX family member A;SPANX family, member A1;cancer/testis antigen 11.1;cancer/testis antigen family 11, member 1;nuclear-associated protein SPAN-Xa;sperm protein associated with the nucleus on the X chromosome A;sperm protein associated with the nucleus, X chromosome, family member A1 APPROVED protein-coding HGNC:11218 02252 300305 REVIEWED 732035 SP1 Sp1 transcription factor The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 12 12 12 q13.1 53423138 53460427 + 53773979 53810230 + 53380195 53416446 + 1580863;6480464;6484113;6907045 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6667 H3BUU5;H3BVI2;P08047 AB039286;AB209678;ABBA01008331;ABBA01008332;ABBA01008333;ABBA01008334;ABBA01008335;ABBA01008336;ABBA01008337;AC068889;AC073611;AF252284;AF255681;AF255682;AF261690;AI282745;AI561005;AJ272134;AK311995;AL442093;AMYH02026517;AMYH02026518;AMYH02026519;AW028976;BC012008;BC043224;BC062539;BC078158;BF434304;BF436290;BF671559;BM463205;BQ072120;BQ431320;BQ774060;CD104746;CH471054;CS691415;FJ949572;FN908228;J03133;NG_030361;NM_001251825;NM_003109;NM_138473;XM_006719570;XM_006719571 AAA61154;AAF67726;AAF75063;AAF78780;AAF78781;AAH43224;AAH62539;ACR22508;BAB13476;BAD92915;BAG34933;CAB75345;CAP12210;CBM42955;EAW96698;EAW96699;EAW96700;NP_001238754;NP_003100;NP_612482;P08047;XP_006719633;XP_006719634 Hs.620754;Hs.649191 1649506;1681181;1685872;1744015;1777894;1791542;1798216;2117643;2125383;2170472;2184966 A006M45;D12S1882;G15947;GDB:384842;PMC114562P1;RH46968;RH65088;RH93219;SHGC-33077;SHGC-35173;SP1_2361 OTTHUMP00000242705;OTTHUMP00000242706;specificity protein 1;transcription factor Sp1 APPROVED protein-coding ENSG00000185591 HGNC:11205 01796 189906 REVIEWED 1353572 SPANXB1 SPANX family, member B1 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular family member contains an additional 18 nucleotides in its coding region compared to the other family members in the same gene cluster. This family member is also subject to gene copy number variation. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. [provided by RefSeq, Apr 2014] X X X q27.1 140458407 140458599 + 140096761 140097876 + 141002591 141003706 + 1580863;6480464 10906052;11133693;12393489;12477932;12758128;14734458;14973187;15489334;15772651;16251457;16390498;17012309;17342728;18626316;19417550;20073942;23077236 728695 Q32WN1;Q9NS25 ABBA01023089;ABBA01023090;ABBA01023091;ABBA01023092;AF098307;AJ457789;AJ457793;AJ457796;AL031078;AL451048;AMYH02040633;AX972163;AY787057;AY787058;AY787059;AY787060;AY787061;AY787062;AY787063;AY787064;AY787065;AY787066;AY787067;AY787068;AY787069;AY787070;AY787071;AY787072;AY787073;AY787074;AY787075;AY787076;AY787077;AY787078;AY787079;AY787080;AY787081;AY787082;AY787083;AY787085;AY787090;AY787092;AY787127;AY787130;AY787632;BC034472;BC137533;BC137536;CH881887;NM_032461;NM_145664 AAF28421;AAH34472;AAI37534;AAI37537;AAW47348;AAW47349;AAW47350;AAW47351;AAW47352;AAW47353;AAW47354;AAW47355;AAW47356;AAW47357;AAW47358;AAW47359;AAW47360;AAW47361;AAW47362;AAW47363;AAW47364;AAW47365;AAW47366;AAW47367;AAW47368;AAW47369;AAW47370;AAW47371;AAW47372;AAW47373;AAW47374;AAW47375;AAW47376;AAW47377;AAW47380;AAW47382;AAW47383;ABM83256;ABM86460;CAD29838;CAD29842;CAD29845;CAF17271;CAI42717;CAI42718;EAW50544;NP_115850;NP_663697;Q9NS25 Hs.434105;Hs.711489 B1;CT11.2;SPANX-B;SPANXB;SPANXB2;SPANXF1;SPANXF2 OTTHUMP00000024171;SPAN-Xf;SPANX family member B/F;SPANX family, member B2;SPANX family, member F1;SPANX family, member F2;SPANX-F;cancer/testis antigen 11.2;cancer/testis antigen family 11, member 2;nuclear-associated protein SPAN-Xb;nuclear-associated protein SPAN-Xf;sperm protein associated with the nucleus on the X chromosome B/F;sperm protein associated with the nucleus, X chromosome, family member B1 APPROVED protein-coding ENSG00000227234 HGNC:14329 15423 300669 REVIEWED 1349351 SPANXF2 SPANX family, member F2 171491 AL451048 HGNC:18447 1347791 SPAM1 sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 7 7 7 q31.3 118369061 118415251 + 123565286 123611464 + 123925232 123971410 + 1580863;6480464;8554872 10493834;11114590;11731267;11731269;12477932;12690205;12853948;12932297;15804358;16344560;20634891;2269661;23209833;23247813;23463525;24778442;8195297;8234258;8282124;8575780 6677 C9J2X5;P38567;Q5D1J4 ABBA01057726;AC004690;AK292229;AMYH02016684;AY920278;AY920279;AY920280;AY920281;BC026163;BI831525;CH236947;CH471070;DB023094;EU794686;HC007296;HC470627;HC679018;JA209070;JA420763;JA721131;L13779;L13781;NM_001174044;NM_001174045;NM_001174046;NM_003117;NM_153189;S67798;X84347 AAC60607;AAH26163;AAQ96882;AAX13985;AAX13986;AAX13987;AAX13988;ABM82583;ABM85770;ACJ13740;BAF84918;CAA59086;CBH19453;CBL54474;CBL86562;CCA64576;CCD32726;CCF70987;EAL24329;EAL24330;EAW83604;EAW83605;EAW83606;NP_001167515;NP_001167516;NP_001167517;NP_003108;NP_694859;P38567 Hs.121494 1664291;1667614;1858540;2129121;2139038 D7S1432;D7S2893;RH66806;SPAM1;STS-S67798 HEL-S-96n;HYA1;HYAL1;HYAL3;HYAL5;MGC26532;PH-20;PH20;SPAG15 OTTHUMP00000211901;OTTHUMP00000211902;OTTHUMP00000211952;epididymis secretory sperm binding protein Li 96n;hyal-PH20;hyaluronidase PH-20;hyaluronoglucosaminidase PH-20;sperm surface protein PH-20 APPROVED protein-coding ENSG00000106304 HGNC:11217 02958 600930 REVIEWED 1601817 SPANXF1 SPANX family, member F1 FOUND IN nucleus q27.1 171490 AJ457793;AJ457796;NM_139019 CAD29842;CAD29845;NP_620588;Q9NS25 Hs.434105 CT11.2;SPAN-Xf;SPANX-B;SPANX-F;SPANXB1;SPANXB2 SPANX family member B/F;SPANX family member B1;cancer/testis antigen 11.2;nuclear-associated protein SPAN-Xb;nuclear-associated protein SPAN-Xf;sperm protein associated with the nucleus on the X chromosome B/F protein-coding HGNC:18409 VALIDATED 1345465 SPANXE SPANX family, member E Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that contains a consensus nuclear localization signal but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. [provided by RefSeq, Jul 2008] X q27.2 141072907 141073995 - 1580863 11133693;12477932;12758128;15489334;16251457;20073942 171489 Q4KRP2 AJ457792;AJ457795;AL121881;AY787086;AY787096;AY787102;AY787104;AY787110;AY787119;AY920740;BC005382;BC062672;DQ994211;DQ994214;DQ994217;DQ994218;DQ994219;DQ994220;DQ994233;DQ994234;DQ994235;EF101635;EF101636;EF101639;EF101642;EF101647;EF101648;EF101649;EF101652;EF101653;EF101657;EF101658;NM_145665 AAH05382;AAH62672;AAW47310;AAW47318;AAW47324;AAW47326;AAW47332;AAW47341;AAY16556;ABK19852;ABK19855;ABK19858;ABK19859;ABK19860;ABK19861;ABK19874;ABK19875;ABK19876;ABK96942;ABK96943;ABK96946;ABK96949;ABK96954;ABK96955;ABK96956;ABK96959;ABK96960;ABK96964;ABK96965;CAD29841;CAD29844;NP_663698;Q8TAD1 Hs.375036 MGC71908;SPANX-A2;SPANX-C;SPANX-D;SPANX-E;SPANXA2;SPANXD SPAN-Xe protein;nuclear-associated protein SPAN-Xe;sperm protein associated with the nucleus on the X chromosome E;sperm protein associated with the nucleus, X chromosome, family member E APPROVED protein-coding HGNC:18408 06723 300671 REVIEWED 1343530 SPANXB2 SPANX family, member B2 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-tail orientation with SPANX family member B1 and appears to be a duplication of that locus. The SPANXB genes are unique members of this gene family, since they contain an additional 18 nt in their coding region compared to the majority of family members. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008] X q27.1 140084756 140085871 + 6480464 10906052;11133693;12477932;12758128;15489334;15772651;16251457;17342728;20073942 100133171 AF098307;AJ457789;AL031078;AMYH02040633;AX972163;BC034472;BC137533;BC137536;CH881887;NM_145664 AAF28421;AAH34472;AAI37534;AAI37537;CAD29838;CAF17271;CAI42718;EAW50544;NP_663697;Q9NS25 Hs.434105;Hs.711489 CT11.2;SPAN-Xf;SPANX;SPANX-B;SPANX-C;SPANX-F;SPANXB;SPANXB1;SPANXF1;hCG2036708 OTTHUMP00000024172;SPAN-Xb protein;SPANX family member B/F;SPANX family member B1;cancer/testis antigen 11.2;nuclear-associated protein SPAN-Xb;nuclear-associated protein SPAN-Xf;sperm protein associated with the nucleus on the X chromosome B/F;sperm protein associated with the nucleus, X chromosome, family member B2 APPROVED protein-coding ENSG00000227234 HGNC:14330 REVIEWED 1350633 SPANXC SPANX family, member C Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family, which is located in a gene cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a protein that localizes to the nucleus and is expressed in highly metastatic cell lines, making the protein a potential diagnostic and prognostic marker. The protein belongs to a family of cancer/testis antigens and represents a potential target for cancer immunotherapy. [provided by RefSeq, Jul 2008] X X X q27.1 141072907 141073957 - 140335596 140336646 - 141241463 141242513 - 1580863;6480464 10626816;11133693;12477932;12758128;14734458;15139967;15489334;16251457;16390498;17012309;17207965;18626316;19417550;20073942;22941507;8125298 64663 A0FGX0;Q8TAD1;Q9NY87 AA412605;AC234777;AJ457790;AL109799;AMYH02040641;AY787084;AY787087;AY787088;AY787089;AY787091;AY787093;AY787094;AY787095;AY787097;AY787098;AY787099;AY787100;AY787101;AY787103;AY787105;AY787106;AY787107;AY787108;AY787109;AY787111;AY787112;AY787113;AY787114;AY787115;AY787116;AY787117;AY787118;AY787121;AY787122;AY787124;AY787129;BC103960;DQ994212;DQ994213;DQ994215;DQ994216;DQ994221;DQ994223;DQ994224;DQ994225;DQ994226;DQ994227;DQ994228;DQ994229;DQ994230;DQ994231;DQ994232;DQ994236;DQ994237;DQ994238;DQ994239;EF101641;EF101643;EF101644;EF101645;EF101646;EF101650;EF101651;EF101654;EF101656;EF101659;NM_022661 AAW47309;AAW47311;AAW47312;AAW47313;AAW47314;AAW47315;AAW47316;AAW47317;AAW47319;AAW47320;AAW47321;AAW47322;AAW47323;AAW47325;AAW47327;AAW47328;AAW47329;AAW47330;AAW47331;AAW47333;AAW47334;AAW47335;AAW47336;AAW47337;AAW47338;AAW47339;AAW47340;AAW47343;AAW47344;AAW47346;AAW47347;ABK19853;ABK19854;ABK19856;ABK19857;ABK19862;ABK19864;ABK19865;ABK19866;ABK19867;ABK19868;ABK19869;ABK19870;ABK19871;ABK19872;ABK19873;ABK19877;ABK19878;ABK19879;ABK19880;ABK96948;ABK96950;ABK96951;ABK96952;ABK96953;ABK96957;ABK96958;ABK96961;ABK96963;ABK96966;ADQ32125;CAD29839;CAI41662;NP_073152;Q9NY87 Hs.375036;Hs.558533 C;CT11.3;CTp11;SPANX-C OTTHUMP00000024173;SPAN-Xc protein;cancer-testis-associated protein CTp11;cancer/testis antigen 11.3;cancer/testis antigen family 11, member 3;cancer/testis-associated protein CTp11;cancer/testis-associated protein of 11 kD;nuclear-associated protein SPAN-Xc;sperm protein associated with the nucleus on the X chromosome C;sperm protein associated with the nucleus, X chromosome, family member C APPROVED protein-coding ENSG00000198573 HGNC:14331 02270 300330 REVIEWED 1322667 SPAG9 sperm associated antigen 9 This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 17 17 17 q21.33 45500809 45659482 - 49039535 49198226 - 50962174 51120865 - 6480464;7240533 20626350 10557099;12168954;12391307;12477932;14662895;14702039;14743216;15144186;15302935;15489334;15693750;15923648;15987681;16077255;16112646;16344560;16356479;16959808;17081983;17353931;18029348;18826971;18922895;19056739;19056867;19596235;19644450;19820019;19947555;20138665;20173330;20360068;21139048;21177868;21282530;21356354;21890473;21900206;21906983;22053931;22146769;22505724;22586326;22863883;22939629;22990118;23696027;23711689;24330581;24349057;24460345;24740566;9480848;9628581 9043 D6RHI8;H0Y981;H0YBE9;H0YBS5;O60271;Q5JB53 AB011088;ABBA01041252;ABBA01041253;ABBA01041254;ABBA01041255;ABBA01041256;ABBA01041257;ABBA01041258;AC005839;AC005920;AF327452;AF542172;AK023512;AK024068;AK091921;AK129652;AK295098;AK299553;AK302789;AK307793;AK309214;AMYH02033608;AMYH02033609;AMYH02033610;AMYH02033611;AMYH02033612;AY219897;AY219898;AY236487;AY850123;BC007524;BC059946;BC146755;BC153878;CH471109;DA631864;DC332810;KJ624756;NG_029710;NM_001130527;NM_001130528;NM_001251971;NM_003971;X91879;XM_005257767;XM_005257768;XM_005257769;XM_005257770;XM_005257771;XM_005257772;XM_005257773;XM_005257774;XM_006722163 AAH07524;AAH59946;AAI46756;AAI53879;AAN61565;AAO66462;AAO66463;AAP74807;AAQ11383;AAX47276;ADZ15793;AIC73822;BAA25442;BAB14812;BAG51202;BAG58134;BAG61498;BAG63993;CAA62987;EAW94569;EAW94570;EAW94571;EAW94572;EAW94573;EAW94574;NP_001123999;NP_001124000;NP_001238900;NP_003962;O60271;XP_005257824;XP_005257825;XP_005257826;XP_005257827;XP_005257828;XP_005257829;XP_005257830;XP_005257831;XP_006722226 Hs.463439 1664451;1666396;1681522;1686818;1700534;1703680;1730283;1734418;1738221;1848724;2118567;2139368;2172440;2185301;5014023;5014063;5037552;7184703 D11S3862;D13S1553;D15S1390;D17S1393E;D17S2022;D17S819E;D8S2279;RH103888;RH12095;RH44968;RH76125;RH78073;RH91778;SHGC-30378;SHGC-78834;STS-Z41139;WI-20746 CT89;FLJ13450;FLJ14006;FLJ26141;FLJ34602;HLC-6;HLC4;HLC6;JIP-4;JIP4;JLP;KIAA0516;MGC117291;MGC14967;MGC74461;PHET;PIG6 C-Jun-amino-terminal kinase-interacting protein 4;JNK interacting protein;JNK/SAPK-associated protein;Max-binding protein;OTTHUMP00000221890;OTTHUMP00000221891;OTTHUMP00000221892;OTTHUMP00000221893;OTTHUMP00000221894;OTTHUMP00000221896;OTTHUMP00000221898;c-Jun NH2-terminal kinase-associated leucine zipper protein;cancer/testis antigen 89;human lung cancer oncogene 6 protein;lung cancer oncogene 4;mitogen-activated protein kinase 8-interacting protein 4;proliferation-inducing gene 6;protein highly expressed in testis;sperm associated antigen 9 variant 5;sperm surface protein;sunday driver 1 APPROVED protein-coding ENSG00000008294 HGNC:14524 10398 605430 REVIEWED 1347946 SPANXD SPANX family, member D Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that is associated with the nucleus but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. Polymorphisms in this gene may be associated with prostate cancer susceptibility. [provided by RefSeq, Apr 2014] X X X q27.1 141072907 141073938 - 140785568 140786598 - 141697411 141698441 - 1580863;6480464 11133693;12477932;12758128;14734458;15489334;16251457;17012309;17373721;20073942 64648 Q4KRP8;Q9BXN6 AC240443;AF312765;AI808260;AJ457791;AJ457792;AJ457795;AL121881;AMYH02040670;AY787086;AY787096;AY787102;AY787104;AY787110;AY787119;AY920734;AY920740;AY920931;AY920932;AY920933;AY920934;AY920935;AY920936;AY920937;AY920938;AY920939;AY920940;AY920941;AY920942;AY920943;AY920944;AY920945;AY920946;AY920947;AY920948;AY920949;AY920950;AY920951;AY920952;AY920953;AY920954;AY920955;AY920956;AY920957;AY920958;AY920959;AY920960;AY920961;AY920962;AY920963;AY920964;AY920965;AY920966;AY920967;AY920968;AY920969;AY920970;AY920971;AY920972;AY920973;AY920974;AY920975;AY920976;AY920977;AY920978;AY920979;AY920980;AY920981;AY920982;AY920983;AY920984;AY920985;AY920986;AY920987;BC005382;BC062672;BC103961;BC121070;BC134418;BM554791;DQ994211;DQ994214;DQ994217;DQ994218;DQ994219;DQ994220;DQ994233;DQ994234;DQ994235;EF101635;EF101636;EF101637;EF101639;EF101642;EF101647;EF101648;EF101649;EF101652;EF101653;EF101657;EF101658;NM_032417 AAH05382;AAH62672;AAI03962;AAI21071;AAI34419;AAK28485;AAW47310;AAW47318;AAW47324;AAW47326;AAW47332;AAW47341;AAY16550;AAY16556;AAY18634;AAY18635;AAY18636;AAY18637;AAY18638;AAY18639;AAY18640;AAY18641;AAY18642;AAY18643;AAY18644;AAY18645;AAY18646;AAY18647;AAY18648;AAY18649;AAY18650;AAY18651;AAY18652;AAY18653;AAY18654;AAY18655;AAY18656;AAY18657;AAY18658;AAY18659;AAY18660;AAY18661;AAY18662;AAY18663;AAY18664;AAY18665;AAY18666;AAY18667;AAY18668;AAY18669;AAY18670;AAY18671;AAY18672;AAY18673;AAY18674;AAY18675;AAY18676;AAY18677;AAY18678;AAY18679;AAY18680;AAY18681;AAY18682;AAY18683;AAY18684;AAY18685;AAY18686;AAY18687;AAY18688;AAY18689;AAY18690;ABK19852;ABK19855;ABK19858;ABK19859;ABK19860;ABK19861;ABK19874;ABK19875;ABK19876;ABK96942;ABK96943;ABK96944;ABK96946;ABK96949;ABK96954;ABK96955;ABK96956;ABK96959;ABK96960;ABK96964;ABK96965;CAD29840;CAD29841;CAD29844;CAI42368;NP_115793;Q9BXN6 Hs.375036 CT11.4;MGC119769;SPANX-C;SPANX-D;SPANX-E;dJ171K16.1 OTTHUMP00000024178;SPAN-Xd protein;SPANX family, member E;SPANXE;cancer/testis antigen 11.4;cancer/testis antigen family 11, member 4;nuclear-associated protein SPAN-Xd;nuclear-associated protein SPAN-Xe;sperm protein associated with the nucleus on the X chromosome D;sperm protein associated with the nucleus, X chromosome, family member D;sperm protein associated with the nucleus, X chromosome, family member E APPROVED protein-coding HGNC:14332 06722 300670;300671 REVIEWED 1606621 SPANXN1 SPANX family, member N1 This gene represents one of several duplicated family members that are located on chromosome X. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, May 2010] X X X q27 144641519 144650139 + 144329107 144337728 + 145247587 145256208 + 14973187;17012309 494118 Q5VSR9 ABBA01054422;AL356499;AL713923;AMYH02040715;AY825029;DQ336118;DQ336119;DQ336120;DQ336121;NG_021225;NM_001009614 AAV97585;ABC61869;ABC61870;ABC61871;ABC61872;NP_001009614;Q5VSR9 Hs.551270 CT11.6;SPANX-N1 OTTHUMP00000043784;cancer/testis antigen family 11, member 6;nuclear-associated protein SPAN-Xn1;sperm protein associated with the nucleus on the X chromosome N1 APPROVED protein-coding HGNC:33174 18090 300664 REVIEWED 1606620 SPANXN2 SPANX family, member N2 X X X q27.3 143082347 143091809 - 142795055 142804516 - 143711955 143721423 - 14973187;17012309 494119 Q5MJ10 ABBA01066417;AC239921;AL080239;AL500522;AMYH02040695;AY825030;DQ336111;DQ336112;DQ336113;DQ336114;DQ336115;NM_001009615 AAI46379;AAI46547;AAV97586;ABC61862;ABC61863;ABC61864;ABC61865;ABC61866;CAI41652;NP_001009615;Q5MJ10 CT11.7;SPANX-N2 OTTHUMP00000043765;cancer/testis antigen family 11, member 7;nuclear-associated protein SPAN-Xn2;sperm protein associated with the nucleus on the X chromosome N2 protein-coding ENSG00000268988 HGNC:33175 18091 300665 VALIDATED 1606617 SPANXN5 SPANX family, member N5 X X X p11.22 56647753 56648955 - 52825186 52826388 - 52796146 52797348 - 14973187;17012309 494197 Q5MJ07 ABBA01056331;AC244505;AL039107;AL445236;AMYH02039427;AY825033;NM_001009616 AAI46365;AAI56578;AAV97589;CAI41620;NP_001009616;Q5MJ07 Hs.535218 1702564 UniSTS:99422 CT11.10;SPANX-N5 OTTHUMP00000043785;cancer/testis antigen family 11, member 10;nuclear-associated protein SPAN-Xn5;sperm protein associated with the nucleus on the X chromosome N5 protein-coding HGNC:33178 18094 300668 VALIDATED 1604672 SPANXN4 SPANX family, member N4 This gene represents one of several duplicated family members that are located on the X chromosome. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, Sep 2009] X X X q27.3 142401127 142409489 + 142113704 142122066 + 143025918 143034280 + 12477932;14973187;17012309;23602568 441525 Q5MJ08;X6R7N2 ABBA01066349;ABBA01066350;ABBA01066351;AL137840;AMYH02040690;AY825032;BC130503;BC130505;DQ336126;DQ336127;NG_013264;NM_001009613 AAI30504;AAI30506;AAV97588;ABC61877;ABC61878;ADR83315;NP_001009613;Q5MJ08 Hs.535082 CT11.9;SPANX-N4 OTTHUMP00000226037;cancer/testis antigen family 11, member 9;nuclear-associated protein SPAN-Xn4;sperm protein associated with the nucleus on the X chromosome N4 APPROVED protein-coding ENSG00000189326 HGNC:33177 18093 300667 REVIEWED 1350741 SPAR surfactant protein A binding protein q31.21 1580863 8360162 9981 L10123 AAA36632;Q15509 SFTPABP protein-coding HGNC:16351 1603581 SPANXN3 SPANX family, member N3 INTERACTS WITH calcitriol; paracetamol X X X q27.3 142883872 142892615 - 142596564 142605307 - 143508735 143517479 - 6480464 12477932;14973187;17012309;19953087;21832049 139067 Q5MJ09 ABBA01066394;ABBA01066395;ABBA01066396;AC239395;AL030997;AL080239;AMYH02040694;AY825031;BC062750;CH471170;DQ336128;DQ336129;NM_001009609 AAH62750;AAV97587;ABC61879;ABC61880;CAI41648;CAI42274;EAW78017;NP_001009609;Q5MJ09 Hs.447320 2155993;2176549 DXS8316;WI-4468 CT11.8;SPANX-N3 OTTHUMP00000043763;cancer/testis antigen family 11, member 8;nuclear-associated protein SPAN-Xn3;sperm protein associated with the nucleus on the X chromosome N3 protein-coding ENSG00000189252 HGNC:33176 18092 300666 VALIDATED 1353232 SPATA12 spermatogenesis associated 12 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH carmustine; temozolomide 3 3 3 p14.3 57060065 57075056 + 57094469 57109460 + 57060441 57075432 + 6480464;8554872 12477932;15489334;15490870;15603706;17251597;22981541 353324 Q0P657;Q7Z6I5 ABBA01024428;AC097358;AMYH02006858;AY221117;BC033337;BC126274;BC136498;CH471055;HC007300;NM_181727 AAH33337;AAI26275;AAI36499;AAP50852;ADR83499;CBH19455;EAW65328;NP_859078;Q7Z6I5 Hs.129794 1698034 RH102548 SRG5 OTTHUMP00000213688;spermatogenesis-associated protein 12;spermatogenesis-related protein 5 protein-coding ENSG00000186451 HGNC:23221 15426 609869 PROVISIONAL 736595 SPARCL1 SPARC-like 1 (hevin) ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 4 4 4 q22.1 85683694 85739861 - 88394483 88450798 - 87473335 87529503 - 1580863;6480464;8554872 10735494;12477932;12538579;15146195;15231748;16316624;16335952;16502470;16844696;17043677;17825989;18381651;18384059;19834535;19850743;20029029;20237496;21528083;21887554;22161898;22891198;22909274;22927397;23916135;24121790;24661672;7600298;8488563;8626806 8404 C9JJR8;D6RA29;E7EU82;E9PC64;F5H1Y9;F5H331;F5H4Y3;Q14515 ABBA01063536;AC093906;AC112250;AK294335;AK298039;AK300956;AK304494;AK304628;AK316533;AL833430;AMYH02009678;AY513278;BC010383;BC022484;BC033721;BX647713;CA442598;CH471057;DA283085;DC403565;DC421365;NM_001128310;NM_001291976;NM_001291977;NM_004684;X82157;X86693 AAH33721;AAT08031;ACE87844;ACT64358;BAG57605;BAG60338;BAG62584;BAG65302;BAG65409;BAH14904;CAA57650;CAA60386;EAX05991;EAX05992;NP_001121782;NP_001278905;NP_001278906;NP_004675;Q14515 Hs.62886 1658680;1797182;2184908 SHGC-59409;SPARCL1;WI-21135 MAST 9;PIG33;SC1;mast9 OTTHUMP00000161184;OTTHUMP00000219654;SPARC-like 1 (mast9, hevin);SPARC-like protein 1;hevin;high endothelial venule protein;proliferation-inducing protein 33;sparc-like 1 protein-coding ENSG00000152583 HGNC:11220 06919 606041 VALIDATED 6481183 SPATA13-AS1 SPATA13 antisense RNA 1 13 13 24826887 24828577 - 24252749 24254439 - 100874231 ABBA01007887;AL359736;AMYH02027703;AV761850;HG505466;NR_046531 Hs.577998 RP11-307N16.5 APPROVED ncrna ENSG00000227213 HGNC:39905 PREDICTED 1316520 SPATA13 spermatogenesis associated 13 ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity; Rac guanyl-nucleotide exchange factor activity; INVOLVED IN cell migration; filopodium assembly; lamellipodium assembly; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; filopodium; lamellipodium; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; arsenous acid 13 13 13 q12.12 5797087 5943877 + 24553765 24881212 + 23979626 24307074 + 1580863;6480464;8554872 12477932;14702039;15057823;15342556;15489334;16344560;17145773;17599059;18029348;18821565;19151759;19910543;19934221;22064162;22419666;22745667;22837378;24144700;24623842 221178 B4DMC2;E9PFR9;J3KQJ8;Q5VX67;Q96N96;V9GZ16 ABBA01007883;ABBA01007884;ABBA01007885;ABBA01007886;ABBA01007887;AK025586;AK055770;AK074117;AK092754;AK092759;AK097217;AK123031;AK123225;AK160371;AK297394;AK298717;AK299981;AK301149;AK307528;AL049335;AL136963;AL139324;AL359736;AL445985;AMYH02027698;AMYH02027699;AMYH02027700;AMYH02027701;AMYH02027702;AMYH02027703;AMYH02027704;AMYH02027705;BC043582;BC109290;BC109291;BK006072;BP201334;BX648244;CH471075;DB221004;HG505465;HY002340;KF511197;NM_001166271;NM_001286792;NM_001286793;NM_001286794;NM_001286795;NM_153023;NR_104595 AAI09291;AAI09292;BAB71009;BAB84943;BAC04977;BAD18714;BAG53856;BAG59834;BAG60873;BAG61802;BAG62740;DAA05848;EAX08331;EAX08332;NP_001159743;NP_001273721;NP_001273722;NP_001273723;NP_001273724;NP_694568;Q96N96 Hs.434298;Hs.595391 1338175;1705120;1715045;1715931;1754849;1759497;1783814;2116555;2132709;2150330;2219710;5093316;5118718 A009L18;D11S3590;D13S1243;D13S850E;G32646;RH119475;RH122701;RH70141;SHGC-141772;SHGC-151206;SHGC-152360;SHGC-79986;SPATA13__5290 ARHGEF29;ASEF2;FLJ31208;FLJ35435;MGC129988;MGC129989;RP11-307N16.3;RP11-309I15.1 APC-stimulated guanine nucleotide exchange factor 2;OTTHUMP00000018126;OTTHUMP00000018128;OTTHUMP00000205783;OTTHUMP00000205784;OTTHUMP00000205785;OTTHUMP00000205786;adenomatous polyposis coli stimulated exchange factor 2;spermatogenesis-associated protein 13 protein-coding ENSG00000182957 HGNC:23222 15427 613324 VALIDATED 1318293 SPAST spastin This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008] 2 2 2 p24-p21 32133566 32227549 + 32288660 32382706 + 32063592 32157637 + 1580863;1358585;6480464;7240710;8699517 11723204 10470851;10493830;10610178;10699187;10980739;11015453;11039577;11087788;11309678;11704932;11809724;11843700;11985387;12023066;12124993;12161613;12163196;12202986;12460147;12471215;12477932;12490534;12552568;12676568;12736085;12743246;12778437;12876245;12925368;12939659;14506940;14656074;14681884;14732620;15147984;15159500;15174051;15210521;15248095;15269182;15326248;15345747;15482961;15537668;15716377;15739043;15841487;15858810;15891913;15939438;16009903;16026783;16055926;16219033;16240363;16339213;16602018;16682546;16684598;16788734;16815977;16826525;16828199;17035675;17098887;17100993;17345589;17389232;17407089;17420921;17560499;17594340;17597328;17598600;17690846;17720546;17895902;17916079;17957230;17971434;18187620;18190593;18202664;18337300;18401025;18613979;18664244;18701882;18997780;19000169;19039240;19056867;19084842;19141076;19289482;19322201;19423133;19620182;19652142;19730024;19875132;19939411;20154342;20200447;20214791;20301339;20301682;20430936;20491894;20559269;20562464;20665701;20718791;20719964;20734064;20843780;20857310;20932283;21546041;21757506;21834905;22192498;22203332;22446388;22573551;22574173;22637577;22960362;23238845;23252998;23264559;23272056;23383273;23400676;23716148;23745751;23812641;23897888;24123785;24163370;24182552;24250222;24478365 6683 E5KRP5;E5KRP6;Q9UBP0 AA830062;AB029006;ABBA01074868;ABBA01074869;ABBA01074870;ABBA01074871;ABBA01074872;ABBA01074873;ABBA01074874;ABBA01074875;ABBA01074876;AJ246001;AJ246003;AK304135;AL121655;AL121658;AMYH02003538;AMYH02003539;AMYH02003540;AMYH02003541;AMYH02003542;AMYH02003543;AMYH02003544;AMYH02003545;BC150260;BG532310;CH471053;HQ205746;HQ205747;HQ205748;HQ205749;HQ205750;HQ205751;HQ205752;HQ205753;HQ205754;HQ205755;HQ205756;HQ205757;HQ205758;HQ205759;HQ205760;HQ205761;HQ205762;HQ205763;HQ205764;HQ205765;HQ205766;HQ205767;HQ205768;HQ205769;HQ205770;HQ205771;HQ205772;HQ205773;HQ205774;HQ205775;HQ205776;HQ205777;HQ205778;HQ205779;HQ205780;HQ205781;HQ205782;HQ205783;HQ205784;HQ205785;NG_008730;NM_014946;NM_199436;XM_005264516 AAI50261;ADP91574;ADP91575;ADP91576;ADP91577;ADP91578;ADP91579;ADP91580;ADP91581;ADP91582;ADP91583;ADP91584;ADP91585;ADP91586;ADP91587;ADP91588;ADP91589;ADP91590;ADP91591;ADP91592;ADP91593;ADP91594;ADP91595;ADP91596;ADP91597;ADP91598;ADP91599;ADP91600;ADP91601;ADP91602;ADP91603;ADP91604;ADP91605;ADP91606;ADP91607;ADP91608;ADP91609;ADP91610;ADP91611;ADP91612;ADP91613;ADP91614;ADP91615;ADP91616;ADP91617;ADP91618;ADP91619;ADP91620;ADP91621;ADP91622;ADP91623;ADP91624;ADP91625;ADP91626;ADP91627;ADP91628;ADP91629;ADP91630;ADP91631;ADP91632;ADP91633;ADP91634;ADP91635;ADP91636;ADP91637;ADP91638;ADP91639;ADP91640;ADP91641;ADP91642;ADP91643;ADP91644;ADP91645;ADP91646;ADP91647;ADP91648;ADP91649;ADP91650;ADP91651;ADP91652;ADP91653;BAA83035;BAG65029;CAB60141;CAB60208;EAX00461;EAX00462;NP_055761;NP_955468;Q9UBP0;XP_005264573 Hs.468091 1647132;1675333;1700338;1768876;5037552 D8S2279;G31531;RH103789;RH94043;SHGC-32499 ADPSP;FSP2;KIAA1083;SPG4 OTTHUMP00000158570;OTTHUMP00000158571;spastic paraplegia 4 (autosomal dominant);spastic paraplegia 4 (autosomal dominant; spastin);spastic paraplegia 4 protein APPROVED protein-coding ENSG00000021574 HGNC:11233 05044 182601;604277 REVIEWED 9068710 SPATA17-AS1 SPATA17 antisense RNA 1 q41 103752555 AC097061;AI025201;NR_125784 Hs.602803 ncrna HGNC:41086 VALIDATED 1604999 SPATA17 spermatogenesis associated 17 ENCODES a protein that exhibits calmodulin binding (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; amiodarone 1 1 1 q41 191028161 191263954 + 217804684 218040492 + 217631342 217867150 + 6480464 12477932;14702039;15489334;16395525;16710414;17081983;19483714;19680270;23079716 128153 Q96L03;R4GN71 ABBA01048109;ABBA01048110;ABBA01048111;ABBA01048112;ABBA01048113;AC097061;AK098591;AK310291;AL354659;AL445428;AMYH02002702;AMYH02002703;AMYH02002704;AY963797;BC014608;CH471100;NM_138796;XM_005273052;XM_006711165 AAH14608;AAY33662;ACE86774;ACE87460;ADZ15754;BAC05343;EAW93332;NP_620151;Q96L03;XP_005273109;XP_006711228 Hs.171130 1652038;1713031 A006V28;RH120297 IQCH;MSRG-11;MSRG11;RP11-144C20.1 IQ motif containing H;OTTHUMP00000035984;spermatogenesis-associated protein 17;spermatogenesis-related protein 11 protein-coding HGNC:25184 14039 611032 PROVISIONAL 1353083 SPATA1 spermatogenesis associated 1 1 1 1 p22.3 83216252 83262706 + 84971902 85022150 + 84506289 84556467 + 11181995;11329013;12477932;15489334;16710414;24250222 100505741 Q5VX52 ABBA01045653;ABBA01045654;AF306347;AL359762;AMYH02001377;BC064144;BC119641;BC119642;BC127634;BG184610;CD300599;CH471097;XM_003118960;XM_003119805;XM_003960123;XM_005271374;XM_005275883;XM_005276137;XM_006710076;XM_006711087;XM_006726336;XR_246362;XR_248842;XR_250776 AAG22047;AAI19642;AAI19643;AAI27635;EAW73234;EAW73235;Q5VX52;XP_003119008;XP_003119853;XP_003960172;XP_005271431;XP_005275940;XP_005276194;XP_006710139;XP_006711150;XP_006726399 Hs.584956 1781766;2118156;2126144;2169361;2219062 CTBS__4649;SHGC-155518;SHGC-75066;SHGC-75072;WI-11830 MGC157666;SP-2;SPAP1 OTTHUMP00000011572;OTTHUMP00000232584;sperm-specific protein SP-2;spermatogenesis associated protein 1;spermatogenesis-associated protein 1;spermatogenesis-associated protein 1-like protein-coding HGNC:14682 MODEL 1606969 SPATA18 spermatogenesis associated 18 INVOLVED IN cellular response to DNA damage stimulus; mitochondrial protein catabolic process; mitochondrion degradation by induced vacuole formation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; intracellular membrane-bounded organelle; mitochondrial outer membrane; INTERACTS WITH 5-aza-2'-deoxycytidine; actinomycin D; aflatoxin B1 4 4 4 q12 50412632 50458652 + 52917578 52963461 + 52051412 52097295 + 6480464;8554872 12477932;14702039;15489334;16088906;21264221;21264228;21300779;22292033;22990118 132671 D6RAW7;D6RAX6;D6RGI2;E7EVV3;Q8TC71 AB465501;AB465502;ABBA01003374;AC093858;AI339078;AK057468;AK098625;AK304386;AK314799;AMYH02009197;BC025396;BC037886;BU683915;BU930386;CH471057;CK904112;DC404003;NM_001297608;NM_145263;NR_123728;XM_005265715;XM_005265716;XM_005265717;XM_005265718;XR_245253 AAH25396;AAH37886;BAB71501;BAC05356;BAG65222;BAJ53738;BAJ53739;EAX05432;EAX05433;NP_001284537;NP_660306;Q8TC71;XP_005265772;XP_005265773;XP_005265774;XP_005265775 Hs.527090 1727181;1757123;2132699 G62844;SHGC-144562;SHGC-67817 FLJ32906;SPETEX1 Mieap;OTTHUMP00000158881;OTTHUMP00000218598;OTTHUMP00000218599;mitochondria-eating protein;spermatogenesis associated 18 homolog;spermatogenesis-associated protein 18 APPROVED protein-coding ENSG00000163071 HGNC:29579 14050 612814 VALIDATED 1606425 SPATA19 spermatogenesis associated 19 INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); spermatogenesis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN mitochondrial outer membrane (inferred); INTERACTS WITH benzo[a]pyrene; pirinixic acid (ortholog); valproic acid (ortholog) 11 11 11 q25 130884494 130889369 - 133710517 133715433 - 133725402 133845538 - 6480464;8554872 12477932;12688595;14702039;15139970;15302935;15489334;17081983;17207965;19886887;20682177 219938 Q7Z5L4 ABBA01031107;AF521713;AK098717;AMYH02025829;AP001979;AP004369;AP004834;BC058039;BX096445;CH471065;HC007298;HC044807;NM_001291992;NM_174927;XM_005271448;XR_428969;XR_428970 AAH58039;AAP80739;ADQ32104;BAC05390;CBH19454;CBH30733;EAW67810;EAW67811;NP_001278921;NP_777587;Q7Z5L4;XP_005271505 Hs.97541 1709726 SHGC-86355 CT132;FLJ25851;SPAS1;spergen1 OTTHUMP00000235238;OTTHUMP00000235239;cancer/testis antigen 132;spergen 1;spergen-1;spermatogenesis-associated protein 19, mitochondrial;spermatogenic cell-specific gene 1 protein;spermatogenic specific-gene1 protein-coding ENSG00000166118 HGNC:30614 11594 609805 VALIDATED 731035 SPARC secreted protein, acidic, cysteine-rich (osteonectin) This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. [provided by RefSeq, Dec 2011] 5 5 5 q31.3-q32 147122406 147147929 - 151040657 151066615 - 151661096 151687054 - 1580863;2300051;2300070;2300025;2300062;2300063;2300071;2300027;2300030;2300026;2300072;2300058;2300024;2300019;2300022;2300069;2300056;2300020;2300021;2300052;6480464;9068449 10502421;10625572;10703670;11294850;11679940;11696817;12359048;12826287;16434596;17149610;17487382;17611274;17717147;17951402;18422975;18615449;8569083;8644857;8786698;8943481 10567433;10756178;10801822;10880278;1093755;10937551;11445660;11554745;11716067;11782382;11856645;11956183;12169206;12201246;12370830;12402984;12427131;12428242;12477932;12658547;12721366;12867428;12879219;1311092;14500371;14702039;14718574;15014008;15034927;15246191;15389586;15469933;15480132;15489334;1552170;15546965;15558074;15609325;15641096;15763438;15763439;15795937;15838642;16012759;16121393;16173048;16263253;16299239;16670288;16735494;16972886;17022822;17213807;17235047;17343824;1737102;17397030;17435158;17490812;17586526;17625595;17638862;17681430;17724718;17970686;17994631;18059024;18084690;18253934;18350569;18367635;18410576;18442048;18442089;18487610;18583538;18787407;18796407;18808384;18813349;18813945;18949063;19177197;19236378;19403984;19448421;19453261;19509023;19597474;19661316;19700761;19703125;19780053;19817957;19830689;19900269;19913121;19920824;20061390;20070483;20087345;20132490;20195270;20210803;20338068;20339379;20369286;20393008;20452482;20525171;20565704;20574156;20606036;20607658;20628086;20628624;20673868;20929508;20955243;21042566;21098700;21152079;21173124;21192846;21264231;21308731;21339733;21672357;21685937;21725199;21778250;21798346;21801304;21818290;21850018;21852239;21867537;21900206;21922274;21962567;21976959;22003835;22114076;22136411;22145659;22206672;22222271;22246794;22247475;22308039;22321704;22422640;22491017;22542805;22563191;22567126;22687753;22718352;22851666;22879971;22880013;22911700;22955913;22956186;22957090;23023935;23050783;2306517;23114088;23123816;23249717;23321672;2338025;23383963;23390502;23516489;23532895;23599341;23638089;23648679;23840838;23846421;23846918;23904381;23935929;24018911;24349098;24396828;24474275;24590286;24769035;2505905;2745554;2790009;2838412;3400777;3402455;3410046;3489235;3581152;3597437;6368555;7034958;7559469;7563094;7721952;7730416;7821789;7829101;7875683;7982919;8516290;8548457;8626499;8647860;8826089;9233787;9284812;9457905;9501084;9792673 6678 E5RJA5;E5RK62;F5GY03;F5H4E2;P09486 ABBA01026262;AC011374;AK096969;AK299441;AK315591;AMYH02012471;AMYH02012472;AY545555;BC004974;BC008011;BC072457;BI602719;BQ018477;CH471062;CR456799;D28381;J03040;M25746;NM_003118;Y00755 AAA60570;AAA60993;AAH04974;AAH08011;AAH72457;AAS50152;ABM84341;ABM87733;BAA05747;BAG37963;BAG61416;CAA68724;CAG33080;EAW61667;EAW61668;EAW61669;EAW61670;EAW61671;EAW61672;NP_003109;P09486 Hs.111779 1649394;1653929;1710932;1742689;1743195;1767649;2127886;2130833;2147101;2157870;2159562;2218052;5016773;5114057;5125787 234;A007I34;D5S2386;D5S2416;D5S444E;GDB:201800;GDB:294200;RH41219;RH47515;RH65614;RH68620;RH71413;SHGC-84435;SPARC_1369;STS-J03040 BM-40;ON OTTHUMP00000160617;basement-membrane protein 40;cysteine-rich protein;osteonectin;secreted protein acidic and rich in cysteine APPROVED protein-coding ENSG00000113140 HGNC:11219 01631 182120 VALIDATED 6481269 SPATA20P1 spermatogenesis associated 20 pseudogene 1 21 21 39610149 39610586 - 38238227 38238664 - 100874060 ABBA01011097;AMYH02037812;AP001434;NG_032331 pseudo HGNC:39636 INFERRED 1603970 SPATA20 spermatogenesis associated 20 ENCODES a protein that exhibits catalytic activity (inferred); INVOLVED IN cell differentiation (inferred); metabolic process (inferred); multicellular organismal development (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; arsenous acid 17 17 17 q21.33 45085923 45094575 + 48624450 48633213 + 50547089 50555852 + 6480464 12477932;14702039;15223837;15231747;15489334;16341674;16344560;21988832;23118872;8125298 64847 D6R947;D6RC70;D6RIU6;H0Y9M1;H0Y9W3;Q8TB22 ABBA01041240;AC021491;AF086245;AK025000;AK025622;AK092731;AK125807;AK225189;AK291805;AK302850;AK308616;AK310416;AL137367;AMYH02033595;BC017468;BC025255;BC065526;BC111029;BM787432;CH471109;CR936769;DA295930;DA489234;DQ238597;KJ806761;NM_001258372;NM_001258373;NM_022827 AAH17468;AAH25255;AAH65526;AAI11030;ABB54669;BAB15051;BAB15192;BAF84494;BAG52603;BAG54251;BAG64037;CAH56380;EAW94603;EAW94604;EAW94605;NP_001245301;NP_001245302;NP_073738;Q8TB22 Hs.103147 1656939;1659331;2190929 G31146;MARC_11627-11628:1002815904:1;RH12494 DKFZp686H1839;FLJ21347;FLJ21969;MGC111032;SSP411;Tisp78 OTTHUMP00000221444;OTTHUMP00000221446;OTTHUMP00000221447;sperm protein SSP411;sperm-specific protein 411;spermatogenesis-associated protein 20;transcript increased in spermiogenesis 78 protein-coding ENSG00000006282 HGNC:26125 07961 613939 VALIDATED 1602628 SPATA21 spermatogenesis associated 21 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH phenobarbital (ortholog) 1 1 1 p36.13 15205065 15243856 - 16722101 16763919 - 16395606 16437424 - 6480464;8554872 12477932;21145461 374955 H7C5T0;Q5VXG6;Q7Z572 ABBA01004668;ABBA01004669;ABBA01004670;AC244454;AK128106;AK311614;AL358794;AY327405;BC022039;BC150598;CH471167;NM_198546;XM_005245866;XR_241189 AAH22039;AAI50599;AAP92797;BAC87278;EAW51779;NP_940948;Q7Z572;XP_005245923 Hs.705501 2142334;2163219 SHGC-33683;SHGC-74280 MGC27074;RP11-430L17.3;spergen-2;spergen2 OTTHUMP00000002439;spermatogenesis-associated protein 21 protein-coding ENSG00000187144 HGNC:28026 14190 PROVISIONAL 1606760 SPATA22 spermatogenesis associated 22 INVOLVED IN fertilization (inferred); gamete generation (inferred); meiotic DNA repair synthesis (inferred); ASSOCIATED WITH Canavan Disease (inferred); FOUND IN chromosome (inferred); INTERACTS WITH trichostatin A; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 p13.3 3357027 3388867 - 3343305 3417146 - 3440011 3513852 - 6480464;8554872 12477932;14702039;15342556;15489334;15713825;20378615;22990118;23049088;23455924;23675907 84690 F5GWB9;I3L1L5;I3L2B9;I3L3S6;I3L4D7;I3L4R7;I3L517;Q8NHS9 ABBA01054737;AC025125;AF367472;AK057485;AK295299;AK301892;AMYH02032798;AMYH02032799;AMYH02032800;AY032684;AY035867;AY035868;BC029483;BG716998;BI463957;BP371122;CH471108;DB450733;NM_001170695;NM_001170696;NM_001170697;NM_001170698;NM_001170699;NM_032598;XM_005256828;XM_005256829;XM_005256830;XM_006721589;XM_006721590;XM_006721591 AAH29483;AAK51120;AAK53408;AAK61373;AAK61374;ABM82168;ABM85354;BAG58280;BAG63323;EAW90508;EAW90509;EAW90510;EAW90511;EAW90512;NP_001164166;NP_001164167;NP_001164168;NP_001164169;NP_001164170;NP_115987;Q8NHS9;XP_005256885;XP_005256886;XP_005256887;XP_006721652;XP_006721653;XP_006721654 Hs.351068 1680807 RH92507 NYD-SP20;NYDSP20 spermatogenesis-associated protein 22;testes development-related NYD-SP20;testis development protein NYD-SP20 protein-coding ENSG00000141255 HGNC:30705 14862 VALIDATED 1605588 SPATA2L spermatogenesis associated 2-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amiodarone; coumestrol 16 16 16 q24.3 74827200 74832533 - 89762765 89768131 - 89696357 89701718 - 6480464;8554872 12477932;17207965;19615732;21906983;8619474;9110174 124044 H3BVE5;Q8IUW3 ABBA01014136;AC010538;AF070574;AK127372;AMYH02032680;BC027606;BC039608;BC053588;BI917028;CH471184;NM_152339;XM_005256279 AAH27606;AAH39608;AAH53588;ADQ33009;BAG54497;EAW66697;EAW66698;EAW66699;NP_689552;Q8IUW3;XP_005256336 Hs.374556 1667703;1698938;1730165 D18S77E;RH103038;SHGC-61182 C16orf76;MGC26885;tamo OTTHUMP00000175350;SPATA2-like protein;spermatogenesis-associated protein 2-like protein protein-coding ENSG00000158792 HGNC:28393 14515 VALIDATED 6481429 SPATA2P1 spermatogenesis associated 2 pseudogene 1 13 13 56788507 56791076 + 56214373 56216942 + 100873966 ABBA01037030;AL590304;NG_032304 pseudo HGNC:39446 INFERRED 7376145 SPATA3-AS1 SPATA3 antisense RNA 1 (head to head) 2 2 2 q37.1 225625346 225636983 - 231849083 231860747 - 230984368 230996032 - 12477932 348761 ABBA01050108;AC105344;AMYH02005960;BC047542;BU620061;BX107322;DB459748;HG495297;HG495298;HG495300;HG495301;HG495302;HG495303;NR_033879 Hs.404807 AC105344.2 ncrna ENSG00000238062 HGNC:28013 VALIDATED 1317781 SPATA3 spermatogenesis associated 3 INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); diazinon (ortholog) 2 2 2 q37.1 225637075 225647511 + 231860839 231884572 + 230996124 231025056 + 6480464 12477932;12812072;14702039;16344560;20379614 130560 F8WDD9;H7C283;H7C3E6;Q8NHX4 ABBA01050108;AC009407;AC105344;AK093385;AK126086;AMYH02005960;AY032925;BC036248;BC047704;CH471063;DB034232;DB446786;NM_139073;XM_005246303;XM_006712276;XR_241282;XR_241284;XR_427069 AAH47704;AAK54455;BAC04149;EAW70942;EAW70943;EAW70944;EAW70945;NP_620712;Q8NHX4;XP_005246360;XP_006712339 Hs.745178 TSARG1 OTTHUMP00000204858;OTTHUMP00000204859;OTTHUMP00000204865;spermatogenesis-associated protein 3;testis and spermatogenesis cell apoptosis related gene 1;testis and spermatogenesis cell-related protein 1;testis spermatocyte apoptosis-related protein 1 protein-coding ENSG00000173699 HGNC:17884 15428 VALIDATED 1349397 SPATA31A1 SPATA31 subfamily A, member 1 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methoxyethanol (ortholog) 9 9 9 p13.1 1 1370 - 39355699 39361956 + 39355702 39361959 + 6480464;8554872 12477932;15164053;20850414 647060 B4DYR9;Q5TZJ5 AK302569;BC040528;BC146855;BX005214;BX664726;NM_001040065;NM_001085452;NM_015667;XM_006716851 AAI46856;BAG63831;CAI17100;NP_001035154;NP_001078921;Q5RGS2;Q5TZJ5;XP_006716914 Hs.575677 C9orf36;C9orf36A;FAM75A1;FAM75A2;SPATA31A2 SPATA31 subfamily A, member 2;SPATA31 subfamily A, member 4;family with sequence similarity 75, member A1;family with sequence similarity 75, member A2;spermatogenesis-associated protein 31A1;spermatogenesis-associated protein 31A2 APPROVED protein-coding ENSG00000204849 HGNC:23394 VALIDATED 1351206 SPATA25 spermatogenesis associated 25 INVOLVED IN spermatogenesis; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-fluorouracil; aflatoxin B1; kojic acid 20 20 20 q13.12 41226588 41227696 - 44515125 44517245 - 45886486 45888575 - 6480464;8554872 11780052;12477932;15489334;19240080 128497 Q9BR10 ABBA01052670;AL008726;AMYH02037154;BC039607;CH471077;NG_008291;NG_033108;NM_080608;XM_005260271 AAH39607;EAW75791;NP_542175;Q9BR10;XP_005260328 Hs.128235 C20orf165;TSG23;dJ337O18.8 OTTHUMP00000031188;chromosome 20 open reading frame 165;spermatogenesis-associated protein 25;testis-specific gene 23 protein;uncharacterized protein C20orf165 APPROVED protein-coding ENSG00000149634 HGNC:16158 12754 VALIDATED 3005862 SPATA24 spermatogenesis associated 24 ENCODES a protein that exhibits DNA binding (inferred); protein homodimerization activity (inferred); INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate; cyclosporin A (ortholog) 5 5 5 q31.2 134852451 134859487 - 138731514 138739820 - 139395940 139404131 - 6480464 12477932;16146721;16341674;17207965;18029348;19240791;21565611;21988832;23455924 202051 D6R9Q3;D6RBC8;H0Y992;H0YAD3;Q86W54;Q8N799 AA399058;ABBA01068638;AC135457;AK098740;AMYH02012318;BC040037;BC050563;BM785501;CH471062;NM_194296;XM_005271916;XM_006714566 AAH50563;ADQ33090;BAC05400;EAW62104;NP_919272;Q86W54;XP_005271973;XP_006714629 Hs.373612 CCDC161;T6441 OTTHUMP00000223719;OTTHUMP00000223720;OTTHUMP00000223721;OTTHUMP00000223723;OTTHUMP00000223725;coiled-coil domain containing 161;spermatogenesis-associated protein 24;testis protein T6441 homolog protein-coding ENSG00000170469 HGNC:27322 VALIDATED 1606852 SPATA31A2 SPATA31 subfamily A, member 2 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); FOUND IN integral component of membrane (inferred) 9 p13.1 39884975 39891210 + 6480464 12477932;20850414 642265 Q5RGS2 AK302569;AMYH02019570;AMYH02019571;AMYH02019572;AMYH02019573;AMYH02019574;AMYH02019575;AMYH02019576;AMYH02019577;AMYH02019578;AMYH02019579;AMYH02019580;AMYH02019581;AMYH02019582;AMYH02019583;AMYH02019584;AMYH02019585;AMYH02019586;AMYH02019587;AMYH02019588;AMYH02019589;AMYH02019590;AMYH02019591;AMYH02019592;AMYH02019593;AMYH02019594;AMYH02019595;AMYH02019596;AMYH02019597;AMYH02019598;AMYH02019599;AMYH02019600;AMYH02019601;AMYH02019602;AMYH02019603;AMYH02019604;AMYH02019605;AMYH02019606;AMYH02019607;AMYH02019608;AMYH02019609;AMYH02019610;AMYH02019611;AMYH02019612;AMYH02019613;AMYH02019614;AMYH02019615;AMYH02019616;AMYH02019617;AMYH02019618;AMYH02019619;AMYH02019620;AMYH02019621;AMYH02019622;AMYH02019623;AMYH02019624;AMYH02019625;AMYH02019626;AMYH02019627;AMYH02019628;AMYH02019629;AMYH02019630;AMYH02019631;AMYH02019632;AMYH02019633;AMYH02019634;AMYH02019635;AMYH02019636;AMYH02019637;AMYH02019638;AMYH02019639;AMYH02019640;AMYH02019641;AMYH02019642;AMYH02019643;AMYH02019644;AMYH02019645;AMYH02019646;AMYH02019647;AMYH02019648;AMYH02019649;AMYH02019650;AMYH02019651;AMYH02019652;AMYH02019653;AMYH02019654;AMYH02019655;AMYH02019656;AMYH02019657;AMYH02019658;AMYH02019659;AMYH02019660;AMYH02019661;AMYH02019662;AMYH02019663;AMYH02019664;AMYH02019665;AMYH02019666;AMYH02019667;AMYH02019668;AMYH02019669;AMYH02019670;AMYH02019671;AMYH02019672;AMYH02019673;AMYH02019674;AMYH02019675;AMYH02019676;AMYH02019677;AMYH02019678;AMYH02019679;AMYH02019680;AMYH02019681;AMYH02019682;AMYH02019683;AMYH02019684;AMYH02019685;AMYH02019686;AMYH02019687;AMYH02019688;AMYH02019689;AMYH02019690;AMYH02019691;AMYH02019692;BC146855;BX664726;NM_001040065 AAI46856;BAG63831;CAI17100;NP_001035154;Q5RGS2 Hs.575677 FAM75A2;FLJ56363 OTTHUMP00000015476;family with sequence similarity 75, member A2;hypothetical protein LOC642265;spermatogenesis-associated protein 31A2 APPROVED protein-coding ENSG00000204848 HGNC:32002 PROVISIONAL 1603719 SPATA31A3 SPATA31 subfamily A, member 3 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) 9 9 9 p13.1 1 1370 - 40700291 40706537 + 66986304 66992550 - 6480464;8554872 12477932;20850414 727830 Q5VYP0 ABBA01116003;AL080148;AL353770;AMYH02019766;NM_001083124;XM_005272517 CAB45741;NP_001076593;Q5VYP0;XP_005272574 Hs.632078 DKFZp434B204;FAM75A3;MGC181958 OTTHUMP00000015349;family with sequence similarity 75, member A3;hypothetical protein LOC727830;spermatogenesis-associated protein 31A3 APPROVED protein-coding ENSG00000275969 HGNC:32003 VALIDATED 1625823 SPATA31A4 SPATA31 subfamily A, member 4 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); FOUND IN integral component of membrane (inferred) 9 p12 41321107 41327397 - 6480464 15164053;20850414 642629 Q4VX67 AL596385;NM_001242613;XM_005272746;XM_005272747 CAI95396;NP_001229542;Q4VX67;XP_005272803;XP_005272804 Hs.740245 FAM75A4 OTTHUMP00000069659;chromosome 9 open reading frame 36-like;family with sequence similarity 75, member A4;hypothetical protein LOC642629;spermatogenesis-associated protein 31A4 APPROVED protein-coding ENSG00000234214 HGNC:32004 VALIDATED 731260 SPATA2 spermatogenesis associated 2 INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH atrazine; copper(2+) sulfate; paracetamol 20 20 20 q13.13 45224519 45236653 - 48519928 48532080 - 49903391 49915543 - 1580863;6480464;8554872 10222154;11160222;11780052;12477932;12531478;14702039;15489334;16189514;18364390;19322201;19389623;19605492;19615732;20385810;20953189;21139048;21832049;8889548;8889549;9872452 9825 A8K0S9;B4DID4;Q9UM82 AB018300;ABBA01052759;AK023229;AK289644;AK295536;AL031685;AMYH02037219;AMYH02037220;BC009481;BU738682;CB992178;CH471077;N62318;NM_001135773;NM_006038;U28164;XM_006723894 AAD28324;AAH09481;ABM84411;ABM87411;BAA34477;BAF82333;BAG51170;BAG58446;EAW75645;EAW75646;NP_001129245;NP_006029;Q9UM82;XP_006723957 Hs.48513 1651422;1693390;1769482;2109879;2155368 AL034507;RH12086;RH79044;SPATA2_8999;STS-D25902 FLJ13167;KIAA0757;PD1;PPP1R145;tamo OTTHUMP00000031253;spermatogenesis associated PD1;spermatogenesis-associated protein 2;spermatogenesis-associated protein PD1 protein-coding ENSG00000158480 HGNC:14681 09636 607662 VALIDATED 9587507 SPATA31A7 SPATA31 subfamily A, member 7 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); FOUND IN integral component of membrane (inferred) 9 9 q12 65503366 65509610 - 61190036 61196280 + 12477932;15164053;15174051;15489334;16094384;16344560;16924657;20850414;22952844 26165 Q8IWB4 AMYH02020615;BC040528;BX005040;CH471089;DB081004;DB085566;NM_015667 AAH40528;EAW62641;NP_056482;Q4VX67;Q8IWB4 Hs.123004;Hs.645497 C9orf36A;FAM75A4;FAM75A7;SPATA31A4 SPATA31 subfamily A, member 4;family with sequence similarity 75, member A4;family with sequence similarity 75, member A7;spermatogenesis-associated protein 31A4;spermatogenesis-associated protein 31A7 protein-coding ENSG00000276040 HGNC:32007 12954 VALIDATED 1626193 SPATA31C1 SPATA31 subfamily C, member 1 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methoxyethanol (ortholog) 9 9 9 q22 61098591 61104286 + 90532877 90538572 + 87917962 87923657 + 6480464;8554872 14702039;16344560 441452 P0DKV0 ABBA01016502;AK093374;AL353572;AMYH02021166;DB065037;NM_001145124 B4DYI2;NP_001138596;P0DKV0 Hs.652956 FAM75C1;FLJ36055;SPATA31C2 family with sequence similarity 75, member C1;hypothetical protein LOC441452;spermatogenesis-associated protein 31C2;uncharacterized protein LOC441452 APPROVED protein-coding HGNC:27846 VALIDATED 2303681 SPATA31A6 SPATA31 subfamily A, member 6 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methoxyethanol (ortholog) 9 9 9 p11.2 1 1998 - 43624502 43630730 - 42183659 42189887 + 6480464 20850414 389730 Q5VVP1 ABBA01007848;AL445584;AMYH02020173;NM_001145196 NP_001138668;Q5VVP1 Hs.455299 FAM75A6 OTTHUMP00000015353;family with sequence similarity 75, member A6;hypothetical protein LOC389730;spermatogenesis-associated protein 31A6 APPROVED protein-coding ENSG00000185775 HGNC:32006 PROVISIONAL 1603417 SPATA31A5 SPATA31 subfamily A, member 5 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); FOUND IN integral component of membrane (inferred) 9 9 9 p12 1 1370 - 41500679 41506925 + 60914407 60920653 + 6480464 20850414 727905 Q5VU36 AL590491;NM_001113541 NP_001107013;Q5VU36 Hs.645497 FAM75A5 OTTHUMP00000015351;family with sequence similarity 75, member A5;hypothetical protein LOC727905;spermatogenesis-associated protein 31A5 APPROVED protein-coding ENSG00000276581 HGNC:32005 VALIDATED 1601912 SPATA31D1 SPATA31 subfamily D, member 1 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) 9 9 9 q21.32 55173976 55180460 + 84603687 84610171 + 81988772 81995256 + 8554872 22118674 389763 Q6ZQQ2 ABBA01033987;AK128831;AL355985;AMYH02021102;CH471089;NM_001001670 BAC87631;EAW62640;NP_001001670;Q6ZQQ2 Hs.209545 FAM75D1;FLJ46321 FAM75-like protein FLJ46321;OTTHUMP00000240119;family with sequence similarity 75, member D1;hypothetical protein LOC389763;spermatogenesis-associated protein 31D1 APPROVED protein-coding ENSG00000214929 HGNC:37283 13531 VALIDATED 4140076 SPATA31D2P SPATA31 subfamily D, member 2, pseudogene 9 9 9 q21.32 55151770 55156498 + 84581478 84586206 + 81966563 81971291 + 100130636 ABBA01033986;AL158154;AL355985;AMYH02021100;NG_009643 1951472 REN46592 FAM75D2P APPROVED pseudo HGNC:38607 INFERRED 4140044 SPATA31D4 SPATA31 subfamily D, member 4 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); FOUND IN integral component of membrane (inferred) 9 9 q21.32 84543343 84549913 + 81928428 81934998 + 6480464 389761 Q6ZUB0 ABBA01203260;AK125847;AK308327;AL158154;AMYH02021095;NM_001145197 BAC86316;NP_001138669;Q6ZUB0 Hs.722630 2145037 CHLC.GAAT4F02 FAM75D4;FLJ43859 FAM75-like protein FLJ43859;family with sequence similarity 75, member D4;hypothetical protein LOC389761;putative protein FAM75D4;putative spermatogenesis-associated protein 31D4 APPROVED protein-coding HGNC:38601 VALIDATED 4140069 SPATA31D5P SPATA31 subfamily D, member 5, pseudogene 9 9 9 q21.32 1 1503 + 84528352 84534842 + 81913437 81919927 + 12477932;16344560 347127 Q6ZU75 ABBA01033984;ABBA01033985;ABBA01033986;AK125938;AK128229;AL158154;AMYH02021091;BC104780;BC104782;BX096267;DB098739;NR_026851 BAC86351 Hs.215235 FAM75D5;FAM75D5P;FLJ43950;FLJ46362;MGC132440;MGC132442 APPROVED pseudo ENSG00000240632 HGNC:38602 VALIDATED 4140036 SPATA31D3 SPATA31 subfamily D, member 3 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); FOUND IN integral component of membrane (inferred) 9 9 9 q21.32 1 2996 - 84558415 84565009 + 81943500 81950094 + 6480464 14702039;15164053 389762 P0C874 AK126070;AL158154;AMYH02021098;NM_207416;XM_005276359 NP_997299;P0C874;XP_005276416 Hs.522246 2145037 CHLC.GAAT4F02 FAM75D3;FLJ44082 FAM75-like protein FLJ44082;Putative FAM75-like protein FLJ44082;family with sequence similarity 75, member D3;hypothetical protein LOC389762;putative protein FAM75D3;putative spermatogenesis-associated protein 31D3 APPROVED protein-coding HGNC:38603 VALIDATED 1351279 SPATA31E1 SPATA31 subfamily E, member 1 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methoxyethanol (ortholog) 9 9 9 q22.1 61066984 61073026 + 90497772 90503814 + 87882857 87888899 + 6480464;8554872 12477932;14702039;15164053;20467438 286234 Q6ZUB1;Q8NA33 ABBA01016501;AK093185;AK093206;AK125845;AL772337;AL834438;AMYH02021166;BC137349;CH471089;HC006860;HC044793;NM_178828 AAI37350;BAC04087;BAC04096;BAC86315;CAD39098;CBH19235;CBH30726;EAW62739;EAW62740;NP_849150;Q6ZUB1 Hs.130672 1758489 SHGC-148454 C9orf79;FAM75E1;FLJ35866 FAM75-like protein C9orf79;OTTHUMP00000021605;XXyac-YM21GA2.5;family with sequence similarity 75, member E1;spermatogenesis-associated protein 31E1 APPROVED protein-coding ENSG00000177992 HGNC:26672 12979 VALIDATED 6480579 SPATA31E3P SPATA31 subfamily E, member 3, pseudogene 15 15 15 q11.2 1612 5177 + 23466077 23470058 - 22403038 22407019 + 646507 AC100757;AC136687;AMYH02030075;NG_022101 FAM75E3P APPROVED pseudo HGNC:43828 INFERRED 4109369 SPATA31C2 SPATA31 subfamily C, member 2 INVOLVED IN cell differentiation (inferred); spermatogenesis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH trichostatin A 9 9 9 q22.1 61098578 61104288 + 90744220 90749900 - 88129305 88138472 - 6480464 16344560 645961 B4DYI2;Q9Y4N5 ABBA01016508;AK302448;AL080179;AL353726;AMYH02021168;DB061043;NM_001166137;XM_006717234 BAG63744;CAB45764;NP_001159609;XP_006717297 Hs.632070 DKFZp434M131;FAM75C2 family with sequence similarity 75, member C2;hypothetical protein LOC645961;uncharacterized protein LOC645961 APPROVED protein-coding HGNC:24508 VALIDATED 1603588 SPATA32 spermatogenesis associated 32 ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN spermatogenesis (inferred); FOUND IN perinuclear region of cytoplasm (inferred) 17 17 17 q21.31 40041127 40048846 - 43331760 43339479 - 45247272 45262112 - 12477932;14702039;15342556;15489334;18621766;21048031 124783 B7Z7K7;K7EPE1;K7EQM9;Q96LK8 ABBA01028318;AC008105;AF433663;AK058143;AK302184;AMYH02033512;BC028124;BP369808;BP370574;CH471178;NM_152343;XM_006721685;XM_006721686 AAH28124;AAP97314;BAB71683;BAH13643;EAW51532;NP_689556;Q96LK8;XP_006721748;XP_006721749 Hs.412719 1656743;1796286;2165470;5493932 AB070159;MAP3K14_912;SHGC-32453;STS-D29513 AEP2;C17orf46;FLJ25414;TEX34;VAD1.2 acrosome expressed 2;hypothetical protein LOC124783;spermatogenesis-associated protein 32;testis expressed 34;testis-expressed sequence 34 protein;uncharacterized protein C17orf46 APPROVED protein-coding ENSG00000184361 HGNC:26349 08690 VALIDATED 1602656 SPATA33 spermatogenesis associated 33 FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH methyl methanesulfonate; quercetin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 q24.3 74788682 74802150 + 89724152 89736866 + 89657744 89670458 + 6480464 12477932;14702039;15342556;23456168;23844118;24250222;8889548 124045 H3BQG0;H3BSG8;J3KRC8;J3KS00;J3KS58;J3KSB2;Q96N06 ABBA01014138;AC010538;AK056168;AK125673;AK128803;AK303024;AMYH02032679;BC045670;BC148299;BP345094;BQ575829;BU741532;CB216379;CH471184;DA300380;DB025192;DB452323;DC357681;DC374690;KF459565;NM_001271907;NM_001271908;NM_001271909;NM_001271910;NM_153025;NR_073515;NR_073516;XM_006721133 AAH45670;AAI48300;AAI60108;BAB71109;BAG64150;EAW66713;EAW66714;NP_001258836;NP_001258837;NP_001258838;NP_001258839;NP_694570;Q96N06;XP_006721196 Hs.655171 5015861;5016781;5037552;5121544;7185938 D10S16;D8S2279;RH46334;SHGC-67307 C16orf55;FLJ31606 OTTHUMP00000175351;hypothetical protein LOC124045;spermatogenesis-associated protein 33;uncharacterized protein C16orf55 APPROVED protein-coding ENSG00000167523 HGNC:26463 08105 615409 VALIDATED 1348615 SPATA4 spermatogenesis associated 4 FOUND IN cytoplasm (inferred); INTERACTS WITH cadmium dichloride (ortholog); pirinixic acid (ortholog); potassium dichromate (ortholog) 4 4 4 q34.2 174433712 174444808 - 177105725 177116822 - 176184574 176195671 - 6480464 12019456;12477932;15158438;15489334;16336790;17207965;18976975;20379614;21827752;21832049;22990118;24250222 132851 G5E9Y6;H0YA30;Q8NEY3 ABBA01070410;ABBA01070411;AC093605;AMYH02010552;AY040204;BC021731;BC029428;BC039342;CH471056;HC007304;NM_144644 AAH21731;AAH39342;AAK72463;ADQ31844;CBH19457;EAX04721;EAX04722;NP_653245;Q8NEY3 Hs.481235 1679237 RH92388 MGC33432;SPEF1B;TSARG2 OTTHUMP00000218986;spermatogenesis-associated protein 4;testis and spermatogenesis cell related protein 2;testis and spermatogenesis cell-related protein 2;testis spermatocyte apoptosis-related gene 2 protein protein-coding ENSG00000150628 HGNC:17333 15429 609879 PROVISIONAL 1604921 SPATA41 spermatogenesis associated 41 (non-protein coding) 15 15 15 q26.3 77300344 77306606 - 100884662 100890923 - 100344457 100350718 - 12477932;14702039;16344560 388182 ABBA01020540;ABBA01020541;AC015723;AK057536;AK124283;AMYH02031158;AY605659;BC028144;BC068097;BC132704;BC132706;CH471101;DB060272;HG507526;NR_028139;NR_028140 AAH28144;AAV83777;BAC85825;EAX02265;EAX02266 Hs.136982 FLJ32974;HSD47;RP11-168G16.1 APPROVED ncrna ENSG00000189419 HGNC:48613 16960 VALIDATED 7245774 SPATA42 spermatogenesis associated 42 (non-protein coding) INTERACTS WITH (+)-catechin 1 1 1 p13.3 107669416 107670723 + 109399839 109401146 + 108857217 108858524 + 642864 AA401510;AA401900;ABBA01068355;AL449266;AMYH02001700;AY312144;CH471122;HG492366;HG492367;NG_032762;NR_034168;NR_049777 AAQ79816;EAW56339 Hs.372658 AKNAD1-AS1;RP11-475E11.5;SRG7 ncrna ENSG00000203897 HGNC:41198 VALIDATED 6480578 SPATA31E2P SPATA31 subfamily E, member 2, pseudogene 15 15 15 q11.2 1612 5177 + 20798691 20802672 - 20593367 20597348 - 646177 ABBA01184355;AC023310;AC131280;AMYH02029987;NG_022095 FAM75E2P APPROVED pseudo HGNC:43827 INFERRED 1606701 SPATA45 spermatogenesis associated 45 1 1 1 q32.3 186229475 186246986 - 213003483 213020991 - 212830141 212847649 - 12477932;20379614 149643 Q537H7 ABBA01048163;ABBA01048164;ABBA01048165;AC104333;AY640234;BC035742;CH471100;NM_001024601 AAH35742;AAU14247;EAW93375;NP_001019772;Q537H7 Hs.153274 C1orf227 OTTHUMP00000212308;UPF0732 protein C1orf227;hypothetical protein LOC149643;spermatogenesis-associated protein 45 APPROVED protein-coding ENSG00000185523 HGNC:33709 18558 PROVISIONAL 1351808 SPATA16 spermatogenesis associated 16 This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010] 3 3 3 q26.31 171006118 171258045 - 172607147 172859058 - 172889357 173141268 - 737633;1580863;7240710;8554872;8699517;6480464 12477932 12529416;14702039;16344560;16372119;17665087;17847006;20379614;20467438;22219177;24825417;24839885 83893 Q9BXB7 ABBA01058641;ABBA01058642;ABBA01058643;ABBA01058644;AC063933;AC092948;AF345909;AF404758;AK093041;AMYH02008153;AMYH02008154;AMYH02008155;BC034496;BI829426;CH471052;DB040560;DQ141866;DQ141867;DQ141868;DQ141869;DQ141870;DQ141871;DQ141872;DQ141873;DQ141874;DQ141875;DQ141876;DQ141877;DQ141878;DQ141879;DQ141880;DQ141881;DQ141882;DQ141883;DQ141884;DQ141885;DQ141886;DQ141887;DQ141888;DQ141889;DQ141890;DQ141891;DQ141892;DQ141893;DQ141894;DQ141895;DQ141896;DQ141897;DQ141898;DQ141899;DQ141900;DQ141901;DQ141902;DQ141903;DQ141904;DQ141905;DQ141906;DQ141907;DQ141908;DQ141909;DQ141910;DQ141911;DQ141912;DQ141913;DQ141914;DQ141915;DQ141916;DQ141917;DQ141918;DQ141919;DQ141920;DQ141921;DQ141922;DQ141923;DQ141924;DQ141925;DQ141926;DQ141927;DQ141928;DQ141929;DQ141930;DQ141931;DQ141932;DQ141933;DQ141934;DQ141935;DQ141936;DQ141937;DQ141944;DQ141945;DQ141946;DQ141947;DQ141948;DQ141949;DQ141950;DQ141951;DQ141952;DQ141953;DQ141954;DQ141955;DQ141956;DQ141957;DQ141958;DQ141959;DQ141960;DQ141961;DQ141962;DQ141963;DQ141964;DQ141965;DQ141966;DQ141967;DQ141968;DQ141969;DQ141970;DQ141971;DQ141972;DQ141973;DQ141974;DQ141975;DQ141976;DQ141977;DQ141978;DQ141979;DQ141980;DQ141981;DQ141982;DQ141983;DQ141984;DQ141985;DQ141986;DQ141987;DQ141988;DQ141989;DQ141990;DQ141991;DQ141992;DQ141993;DQ141994;DQ141995;DQ141996;DQ141997;DQ141998;DQ141999;DQ142000;DQ142001;DQ142002;DQ142003;DQ142004;DQ142005;DQ142006;DQ142007;DQ142008;DQ142009;DQ142010;DQ142011;DQ142012;DQ142013;DQ142014;DQ142015;DQ142022;DQ142023;DQ142024;DQ142025;DQ142026;DQ142027;DQ142028;DQ142029;DQ142030;DQ142031;DQ142032;DQ142033;DQ142034;DQ142035;DQ142036;DQ142037;DQ142038;DQ142039;DQ142040;DQ142041;DQ142042;DQ142043;DQ142044;DQ142045;DQ142046;DQ142047;DQ142048;DQ142049;DQ142050;DQ142051;DQ142052;DQ142053;DQ142054;DQ142055;DQ142056;DQ142057;DQ142058;DQ142059;DQ142060;DQ142061;DQ142062;DQ142063;DQ142064;DQ142065;DQ142066;DQ142067;DQ142068;DQ142069;DQ142070;DQ142071;DQ142072;DQ142073;DQ142074;DQ142075;DQ142076;DQ142077;DQ142078;DQ142079;DQ142080;DQ142081;DQ142082;DQ142083;DQ142084;DQ142085;DQ142086;DQ142087;DQ142088;DQ142089;DQ142090;DQ142091;DQ142092;DQ142093;DQ142100;DQ142101;DQ142102;DQ142103;DQ142104;DQ142105;DQ142106;DQ142107;DQ142108;DQ142109;DQ142110;DQ142111;DQ142112;DQ142113;DQ142114;DQ142115;DQ142116;DQ142117;DQ142118;DQ142119;DQ142120;DQ142121;DQ142122;DQ142123;DQ142124;DQ142125;DQ142126;DQ142127;DQ142128;DQ142129;DQ142130;DQ142131;DQ142132;DQ142133;DQ142134;DQ142135;DQ142136;DQ142137;DQ142138;DQ142139;DQ142140;DQ142141;DQ142142;DQ142143;DQ142144;DQ142145;DQ142146;DQ142147;DQ142148;DQ142149;DQ142150;DQ142151;DQ142152;DQ142153;DQ142154;DQ142155;DQ142156;DQ142157;DQ142158;DQ142159;DQ142160;DQ142161;DQ142162;DQ142163;DQ142164;DQ142165;DQ142166;DQ142167;DQ142168;DQ142169;DQ142170;DQ142171;DQ142178;DQ142179;DQ142180;DQ142181;DQ142182;DQ142183;DQ142184;DQ142185;DQ142186;DQ142187;DQ142188;DQ142189;DQ142190;DQ142191;DQ142192;DQ142193;DQ142194;DQ142195;DQ142196;DQ142197;DQ142198;DQ142199;DQ142200;DQ142201;DQ142202;DQ142203;DQ142204;DQ142205;DQ142206;DQ142207;DQ142208;DQ142209;DQ142210;DQ142211;DQ142212;DQ142213;DQ142214;DQ142215;DQ142216;DQ142217;DQ142218;DQ142219;DQ142220;DQ142221;DQ142222;DQ142223;DQ142224;DQ142225;DQ142226;DQ142227;DQ142228;DQ142229;DQ142230;DQ142231;DQ142232;DQ142233;DQ142234;DQ142235;DQ142236;DQ142237;DQ142238;DQ142239;DQ142240;DQ142241;DQ142242;DQ142243;DQ142244;DQ142245;DQ142246;DQ142247;DQ142248;DQ142249;DQ142256;DQ142257;DQ142258;DQ142259;DQ142260;DQ142261;DQ142262;DQ142263;DQ142264;DQ142265;DQ142266;DQ142267;DQ142268;DQ142269;DQ142270;DQ142271;DQ142272;DQ142273;DQ142274;DQ142275;DQ142276;DQ142277;DQ142278;DQ142279;DQ142280;DQ142281;DQ142282;DQ142283;DQ142284;DQ142285;DQ142286;DQ142287;DQ142288;DQ142289;DQ142290;DQ142291;DQ142292;DQ142293;DQ142294;DQ142295;DQ142296;DQ142297;DQ142298;DQ142299;DQ142300;DQ142301;DQ142302;DQ142303;DQ142304;DQ142305;DQ142306;DQ142307;DQ142308;DQ142309;DQ142310;DQ142311;DQ142312;DQ142313;DQ142314;DQ142315;DQ142316;DQ142317;DQ142318;DQ142319;DQ142320;DQ142321;DQ142322;DQ142323;DQ142324;DQ142325;DQ142326;DQ142327;DQ142334;DQ142335;DQ142336;DQ142337;DQ142338;DQ142339;DQ142340;DQ142341;DQ142342;DQ142343;DQ142344;DQ142345;DQ142346;DQ142347;DQ142348;DQ142349;DQ142350;DQ142351;DQ142352;DQ142353;DQ142354;DQ142355;DQ142356;DQ142357;DQ142358;DQ142359;DQ142360;DQ142361;DQ142362;DQ142363;DQ142364;DQ142365;DQ142366;DQ142367;DQ142368;DQ142369;DQ142370;DQ142371;DQ142372;DQ142373;DQ142374;DQ142375;DQ142376;DQ142377;DQ142378;DQ142379;DQ142380;DQ142381;DQ142382;DQ142383;DQ142384;DQ142385;DQ142386;DQ142387;DQ142388;DQ142389;DQ142390;DQ142391;DQ142392;DQ142393;DQ142394;DQ142395;DQ142396;DQ142397;DQ142398;DQ142399;DQ142400;DQ142401;DQ142402;DQ142403;DQ142404;DQ142405;DQ142412;DQ142413;DQ142414;DQ142415;DQ142416;DQ142417;DQ142418;DQ142419;DQ142420;DQ142421;DQ142422;DQ142423;DQ142424;DQ142425;DQ142426;DQ142427;DQ142428;DQ142429;DQ142430;DQ142431;DQ142432;DQ142433;DQ142434;DQ142435;DQ142436;DQ142437;DQ142438;DQ142439;DQ142440;DQ142441;DQ142442;DQ142443;DQ142444;DQ142445;DQ142446;DQ142447;DQ142448;DQ142449;DQ142450;DQ142451;DQ142452;DQ142453;DQ142454;DQ142455;DQ142456;DQ142457;DQ142458;DQ142459;DQ142460;DQ142461;DQ142462;DQ142463;DQ142464;DQ142465;DQ142466;DQ142467;DQ142468;DQ142469;DQ142470;DQ142471;DQ142472;DQ142473;DQ142474;DQ142475;DQ142476;DQ142477;DQ142478;DQ142479;DQ142480;DQ142481;DQ142482;DQ142483;DQ142491;DQ142495;DQ142496;DQ142497;DQ142498;DQ142499;DQ142500;DQ142501;DQ142502;DQ142503;DQ142504;DQ142505;DQ142506;DQ142507;DQ142508;DQ142509;DQ142510;DQ142511;DQ142512;DQ142513;DQ142514;DQ142515;DQ142516;DQ142517;DQ142518;DQ142519;DQ142520;DQ142521;DQ142522;DQ142523;DQ142524;DQ142525;DQ142526;DQ142527;DQ142528;DQ142529;DQ142530;DQ142531;DQ142532;DQ142533;DQ142534;DQ142535;DQ142536;DQ142537;DQ142538;DQ142539;DQ142540;DQ142541;DQ142542;DQ142543;DQ142544;DQ142545;DQ142546;DQ142547;DQ142548;DQ142549;DQ142550;DQ142551;DQ142552;DQ142553;DQ142554;DQ142555;DQ142556;DQ142557;DQ142558;DQ142559;DQ142560;DQ142561;DQ142568;DQ142569;DQ142570;DQ142571;DQ142572;DQ142573;DQ142574;DQ142575;DQ142576;DQ142577;DQ142578;DQ142579;DQ142580;DQ142581;DQ142582;DQ142583;DQ142584;DQ142585;DQ142586;DQ142587;DQ142588;DQ142589;DQ142590;DQ142591;DQ142592;DQ142593;DQ142594;DQ142595;DQ142596;DQ142597;DQ142598;DQ142599;DQ142600;DQ142601;DQ142602;DQ142603;DQ142604;DQ142605;DQ142606;DQ142607;DQ142608;DQ142609;DQ142610;DQ142611;DQ142612;DQ142613;DQ142614;DQ142615;DQ142616;DQ142617;DQ142618;DQ142619;DQ142620;DQ142621;DQ142622;DQ142623;DQ142624;DQ142625;DQ142626;DQ142627;DQ142628;DQ142629;DQ142630;DQ142631;DQ142632;DQ142633;DQ142634;DQ142635;DQ142636;DQ142637;DQ142638;DQ142639;NG_021422;NM_031955;XM_006713778 AAH34496;AAK29063;AAK95642;ABA27447;ABA27448;ABA27449;ABA27450;ABA27451;ABA27452;ABA27453;ABA27454;ABA27455;ABA27456;ABA27457;ABA27458;ABA27459;ABA27460;ABA27461;ABA27462;ABA27463;ABA27464;ABA27465;ABA27466;ABA27467;ABA27468;ABA27469;ABA27470;ABA27471;ABA27472;ABA27473;ABA27474;ABA27475;ABA27476;ABA27477;ABA27478;ABA27479;ABA27480;ABA27481;ABA27482;ABA27483;ABA27484;ABA27485;ABA27486;ABA27487;ABA27488;ABA27489;ABA27490;ABA27491;ABA27492;ABA27493;ABA27494;ABA27495;ABA27496;ABA27497;ABA27498;ABA27499;ABA27500;ABA27501;ABA27502;ABA27503;ABA27504;ABA27505;ABA27506;ABA27507;ABA27508;ABA27509;ABA27510;ABA27511;ABA27512;ABA27513;ABA27514;ABA27515;ABA27516;ABA27517;ABA27518;ABA27519;ABA27520;ABA27521;ABA27522;ABA27523;ABA27524;ABA27525;ABA27526;ABA27527;ABA27528;ABA27529;ABA27530;ABA27531;ABA27532;ABA27533;ABA27534;ABA27535;ABA27536;ABA27537;ABA27538;ABA27539;ABA27540;ABA27541;ABA27542;ABA27543;ABA27544;ABA27545;ABA27546;ABA27547;ABA27548;ABA27549;ABA27550;ABA27551;ABA27552;ABA27553;ABA27554;ABA27555;ABA27556;ABA27557;ABA27558;ABA27559;ABA27560;ABA27561;ABA27562;ABA27563;ABA27564;ABA27565;ABA27566;ABA27567;ABA27568;ABA27569;ABA27570;ABA27571;ABA27572;ABA27573;ABA27574;ABA27575;ABA27576;ABA27577;ABA27578;ABA27579;ABA27580;ABA27581;ABA27582;ABA27583;ABA27584;ABA27585;ABA27586;ABA27587;ABA27588;ABA27589;ABA27590;ABA27591;ABA27592;ABA27593;ABA27594;ABA27595;ABA27596;ABA27597;ABA27598;ABA27599;ABA27600;ABA27601;ABA27602;ABA27603;ABA27604;ABA27605;ABA27606;ABA27607;ABA27608;ABA27609;ABA27610;ABA27611;ABA27612;ABA27613;ABA27614;ABA27615;ABA27616;ABA27617;ABA27618;ABA27619;ABA27620;ABA27621;ABA27622;ABA27623;ABA27624;ABA27625;ABA27626;ABA27627;ABA27628;ABA27629;ABA27630;ABA27631;ABA27632;ABA27633;ABA27634;ABA27635;ABA27636;ABA27637;ABA27638;ABA27639;ABA27640;ABA27641;ABA27642;ABA27643;ABA27644;ABA27645;ABA27646;ABA27647;ABA27648;ABA27649;ABA27650;ABA27651;ABA27652;ABA27653;ABA27654;ABA27655;ABA27656;ABA27657;ABA27658;ABA27659;ABA27660;ABA27661;ABA27662;ABA27663;ABA27664;ABA27665;ABA27666;ABA27667;ABA27668;ABA27669;ABA27670;ABA27671;ABA27672;ABA27673;ABA27674;ABA27675;ABA27676;ABA27677;ABA27678;ABA27679;ABA27680;ABA27681;ABA27682;ABA27683;ABA27684;ABA27685;ABA27686;ABA27687;ABA27688;ABA27689;ABA27690;ABA27691;ABA27692;ABA27693;ABA27694;ABA27695;ABA27696;ABA27697;ABA27698;ABA27699;ABA27700;ABA27701;ABA27702;ABA27703;ABA27704;ABA27705;ABA27706;ABA27707;ABA27708;ABA27709;ABA27710;ABA27711;ABA27712;ABA27713;ABA27714;ABA27715;ABA27716;ABA27717;ABA27718;ABA27719;ABA27720;ABA27721;ABA27722;ABA27723;ABA27724;ABA27725;ABA27726;ABA27727;ABA27728;ABA27729;ABA27730;ABA27731;ABA27732;ABA27733;ABA27734;ABA27735;ABA27736;ABA27737;ABA27738;ABA27739;ABA27740;ABA27741;ABA27742;ABA27743;ABA27744;ABA27745;ABA27746;ABA27747;ABA27748;ABA27749;ABA27750;ABA27751;ABA27752;ABA27753;ABA27754;ABA27755;ABA27756;ABA27757;ABA27758;ABA27759;ABA27760;ABA27761;ABA27762;ABA27763;ABA27764;ABA27765;ABA27766;ABA27767;ABA27768;ABA27769;ABA27770;ABA27771;ABA27772;ABA27773;ABA27774;ABA27775;ABA27776;ABA27777;ABA27778;ABA27779;ABA27780;ABA27781;ABA27782;ABA27783;ABA27784;ABA27785;ABA27786;ABA27787;ABA27788;ABA27789;ABA27790;ABA27791;ABA27792;ABA27793;ABA27794;ABA27795;ABA27796;ABA27797;ABA27798;ABA27799;ABA27800;ABA27801;ABA27802;ABA27803;ABA27804;ABA27805;ABA27806;ABA27807;ABA27808;ABA27809;ABA27810;ABA27811;ABA27812;ABA27813;ABA27814;ABA27815;ABA27816;ABA27817;ABA27818;ABA27819;ABA27820;ABA27821;ABA27822;ABA27823;ABA27824;ABA27825;ABA27826;ABA27827;ABA27828;ABA27829;ABA27830;ABA27831;ABA27832;ABA27833;ABA27834;ABA27835;ABA27836;ABA27837;ABA27838;ABA27839;ABA27840;ABA27841;ABA27842;ABA27843;ABA27844;ABA27845;ABA27846;ABA27847;ABA27848;ABA27849;ABA27850;ABA27851;ABA27852;ABA27853;ABA27854;ABA27855;ABA27856;ABA27857;ABA27858;ABA27859;ABA27860;ABA27861;ABA27862;ABA27863;ABA27864;ABA27865;ABA27866;ABA27867;ABA27868;ABA27869;ABA27870;ABA27871;ABA27872;ABA27873;ABA27874;ABA27875;ABA27876;ABA27877;ABA27878;ABA27879;ABA27880;ABA27881;ABA27882;ABA27883;ABA27884;ABA27885;ABA27886;ABA27887;ABA27888;ABA27889;ABA27890;ABA27891;ABA27892;ABA27893;ABA27894;ABA27895;ABA27896;ABA27897;ABA27898;ABA27899;ABA27900;ABA27901;ABA27902;ABA27903;ABA27904;ABA27905;ABA27906;ABA27907;ABA27908;ABA27909;ABA27910;ABA27911;ABA27912;ABA27913;ABA27914;ABA27915;ABA27916;ABA27917;ABA27918;ABA27919;ABA27920;ABA27921;ABA27922;ABA27923;ABA27924;ABA27925;ABA27926;ABA27927;ABA27928;ABA27929;ABA27930;ABA27931;ABA27932;ABA27933;ABA27934;ABA27935;ABA27936;ABA27937;ABA27938;ABA27939;ABA27940;ABA27941;ABA27942;ABA27943;ABA27944;ABA27945;ABA27946;ABA27947;ABA27948;ABA27949;ABA27950;ABA27952;ABA27956;ABA27957;ABA27958;ABA27959;ABA27960;ABA27961;ABA27962;ABA27963;ABA27964;ABA27965;ABA27966;ABA27967;ABA27968;ABA27969;ABA27970;ABA27971;ABA27972;ABA27973;ABA27974;ABA27975;ABA27976;ABA27977;ABA27978;ABA27979;ABA27980;ABA27981;ABA27982;ABA27983;ABA27984;ABA27985;ABA27986;ABA27987;ABA27988;ABA27989;ABA27990;ABA27991;ABA27992;ABA27993;ABA27994;ABA27995;ABA27996;ABA27997;ABA27998;ABA27999;ABA28000;ABA28001;ABA28002;ABA28003;ABA28004;ABA28005;ABA28006;ABA28007;ABA28008;ABA28009;ABA28010;ABA28011;ABA28012;ABA28013;ABA28014;ABA28015;ABA28016;ABA28017;ABA28018;ABA28019;ABA28020;ABA28021;ABA28022;ABA28023;ABA28024;ABA28025;ABA28026;ABA28027;ABA28028;ABA28029;ABA28030;ABA28031;ABA28032;ABA28033;ABA28034;ABA28035;ABA28036;ABA28037;ABA28038;ABA28039;ABA28040;ABA28041;ABA28042;ABA28043;ABA28044;ABA28045;ABA28046;ABA28047;ABA28048;ABA28049;ABA28050;ABA28051;ABA28052;ABA28053;ABA28054;ABA28055;ABA28056;ABA28057;ABA28058;ABA28059;ABA28060;ABA28061;ABA28062;ABA28063;ABA28064;ABA28065;ABA28066;ABA28067;ABA28068;ABA28069;ABA28070;ABA28071;ABA28072;ABA28073;ABA28074;ABA28075;ABA28076;ABA28077;ABA28078;ABA28079;ABA28080;ABA28081;ABA28082;ABA28083;ABA28084;ABA28085;ABA28086;ABA28087;ABA28088;ABA28089;ABA28090;ABA28091;ABA28092;ABA28093;ABA28094;ABA28095;ABA28096;ABA28097;ABA28098;ABA28099;ABA28100;ABA28101;ABA28102;ABA28103;ABA28104;ABA28105;ABA28106;ABA28107;ABA28108;ABA28109;ABA28110;ABA28111;ABA28112;ABA28113;ABA28114;ABA28115;ABA28116;ABA28117;ABA28118;ABA28119;ABA28120;ABA28121;ABA28122;ABA28123;ABA28124;ABA28125;ABA28126;ABA28127;ABA28128;ABA28129;ABA28130;ABA28131;ABA28132;ABA28133;ABA28134;ABA28135;ABA28136;ABA28137;ABA28138;ABA28139;ABA28140;ABA28141;ABA28142;ABA28143;ABA28144;ABA28145;ABA28146;ABA28147;ABA28148;ABA28149;ABA28150;ABA28151;ABA28152;ABA28153;ABA28154;ABA28155;ABA28156;ABA28157;ABA28158;ABA28159;ABA28160;ABA28161;ABA28162;ABA28163;ABA28164;ABA28165;ABA28166;BAG52640;EAW78459;NP_114161;Q9BXB7;XP_006713841 Hs.444236 1784756 SHGC-154504 NYD-SP12;SPGF6 OTTHUMP00000210843;spermatogenesis-associated protein 16;testis development protein NYD-SP12;testis-specific Golgi protein APPROVED protein-coding ENSG00000144962 HGNC:29935 11408 102530;609856 REVIEWED 1317463 SPATA5L1 spermatogenesis associated 5-like 1 ENCODES a protein that exhibits ATP binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2-methylcholine; copper(2+) sulfate; crocidolite asbestos 15 15 15 q21.1 22585940 22605033 + 45694514 45713617 + 45402321 45421419 + 737633;1580863;6480464;8554872 12477932 14702039;19430482;20383146;21145461;21906983;21963094;21987572;22505724;23000965;23535967;24250222;8125298 79029 H0YCA5;H0YL79;Q9BVQ7 AA451905;ABBA01039184;AC025580;AF086107;AK022348;AK023232;AK225463;AK291457;AMYH02030357;BC000981;BC051861;CH471082;DC346759;NM_024063;NR_027635;XM_005254657;XR_243126 AAH00981;BAB14017;BAB14482;BAF84146;EAW77310;EAW77311;NP_076968;Q9BVQ7;XP_005254714 Hs.369657 2155319;5127040 SGC32822;STS-D20163 FLJ12286;MGC5347 OTTHUMP00000162118;spermatogenesis-associated protein 5-like protein 1 protein-coding ENSG00000171763 HGNC:28762 11596 VALIDATED 732866 SPATA6 spermatogenesis associated 6 INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); spermatogenesis (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH arsenite(3-); trichostatin A; valproic acid 1 1 1 p33 47047765 47224218 - 48761044 48937876 - 48260553 48472208 - 6480464 11735130;12477932;12509440;14702039;15489334;16344560;16710414 54558 A8MU33;B1AN51;B4DX17;Q9NWH7;S4R3R3;S4R3X9 ABBA01050803;ABBA01050804;AK000869;AK301770;AL109659;AL356968;AL359959;AMYH02000982;BC020660;BC040655;CH471059;DB025426;NM_001286238;NM_001286239;NM_019073;XM_005270948;XM_006710699;XM_006710700;XM_006710701 AAH20660;ABM82927;ABM86117;BAA91403;BAG63229;EAX06854;EAX06855;NP_001273167;NP_001273168;NP_061946;Q9NWH7;XP_005271005;XP_006710762;XP_006710763;XP_006710764 Hs.538103 1338629;1676440;1680711;1682896;1717319;1847621;2120480;2179374 Bda71b04;D1S2824;G19623;RH122150;RH66845;RH75579;SHGC-74769;WI-14342 FLJ10007;HASH;SRF-1;SRF1 OTTHUMP00000009461;OTTHUMP00000009462;spermatogenesis-associated protein 6;spermatogenesis-related factor-1 protein-coding ENSG00000132122 HGNC:18309 15430 613947 VALIDATED 1321404 SPATA5 spermatogenesis associated 5 ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); spermatogenesis (inferred); PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; calcitriol 4 4 4 q28.1 121227068 121623149 + 123844225 124240605 + 122923070 123319450 + 1580863;6480464;6907045;8554872 10734318;11076863;11230166;11256614;12477932;14702039;15489336;16344560;16381901;16465403;20379614;21822266;21890473;21906983;22027810;22505724;23000965;24816145 166378 Q8NB90 ABBA01044743;ABBA01044744;ABBA01044745;ABBA01044746;ABBA01044747;ABBA01044748;AC021205;AC026402;AC097492;AC109357;AF361489;AF479656;AK091384;AL832175;AMYH02010022;AMYH02010023;AMYH02010024;AMYH02010025;AMYH02010026;AMYH02010027;BC048217;CH471056;CR738547;DA619323;NM_145207;XM_005262783;XM_005262784;XM_006714117;XR_427531 AAH48217;AAM00262;AAM43608;BAC03651;CAL37817;CAL38707;EAX05213;EAX05214;EAX05215;EAX05216;NP_660208;Q8NB90;XP_005262840;XP_005262841;XP_006714180 Hs.709648 1334621;1335106;1659812;1671843;1708166;1749095;1751841;2180511;5016478;5016700;5022200;5022578;5022588;5037552;5116670;5117897;7186144 D1S1423;D4S194;D4S2985;D4S3250;D5S1597E;D8S2279;GDB:434012;GDB:631813;L18426;RH79802;SHGC-105842;SHGC-110750;SHGC-24253;SHGC-64097;SHGC-79330;sY3122 AFG2;SPAF ATPase family gene 2 homolog;ATPase family protein 2 homolog;OTTHUMP00000164089;spermatogenesis associated factor SPAF;spermatogenesis-associated factor protein;spermatogenesis-associated protein 5 protein-coding ENSG00000145375 HGNC:18119 11595 613940 VALIDATED 1320709 SPATA6L spermatogenesis associated 6-like ASSOCIATED WITH Dicarboxylicaminoaciduria (inferred); INTERACTS WITH C60 fullerene (ortholog); cadmium dichloride (ortholog) 9 9 9 p24.2 4520019 4589180 - 4553386 4666674 - 4553386 4666674 - 6480464;8554872 12477932;14702039;15164053;15489334;16344560;17207965;20379614;23870195 55064 F8W9P2;Q8N4H0;Q9NWF6 ABBA01065420;ABBA01065421;AI680014;AK000920;AK295831;AK301790;AL136231;AL162587;AMYH02019075;AMYH02019076;BC034293;BC036349;BX649030;CH471071;DA234263;DA926064;H05132;NM_001039395;XM_005251499;XM_006716795;XM_006716796;XM_006716797;XM_006716798;XM_006716799;XM_006716800;XM_006716801;XM_006716802;XM_006716803;XR_242509;XR_242510 AAH34293;ADQ32396;BAA91425;BAG58646;BAG63245;EAW58783;EAW58784;NP_001034484;Q8N4H0;XP_005251556;XP_006716858;XP_006716859;XP_006716860;XP_006716861;XP_006716862;XP_006716863;XP_006716864;XP_006716865;XP_006716866 Hs.179615 1339870;1649665;1655598;1661304;1678927;1735944;1759015;1766789;1767119;1798170;2149168;2152134;2175093;5022200;5107469;5112017 D9S1071E;D9S1151;D9S1686;D9S1982;G44365;L18426;RH11999;RH15877;RH70490;RH91722;SHGC-151108;SHGC-152110;SHGC-24270;SHGC-35927;SLC1A1_2172;STS-AA026012 C9orf68;FLJ10058;RP11-280I16.2;bA6J24.2 OTTHUMP00000214972;OTTHUMP00000214974;OTTHUMP00000214976;hypothetical protein LOC55064;spermatogenesis associated 6-like protein;uncharacterized protein C9orf68 APPROVED protein-coding ENSG00000106686 HGNC:25472 12973 VALIDATED 7245290 SPATA8-AS1 SPATA8 antisense RNA 1 (head to head) 15 15 97315235 97326567 - 96772005 96783337 - 100652749 AA812851;ABBA01032414;AC027004;AMYH02031120;HG507498;HG507499;HY049461;HY244176;NR_102753;NR_102754 Hs.303588 RP11-143C19.1 ncrna ENSG00000259282 HGNC:48627 VALIDATED 1347601 SPATA8 spermatogenesis associated 8 ASSOCIATED WITH Melanoma (inferred) 15 15 15 q26.2 73743232 73745401 + 97326676 97328845 + 96783446 96785615 + 8554872 12477932;15489334;16809841;17207965;18951430;23251661 145946 H0YL21;Q6RVD6 ABBA01032414;AC027004;AMYH02031120;AY489187;BC033979;BC066292;BC112390;CH471101;HC007306;HC044843;NM_173499 AAH33979;AAH66292;AAI12391;AAR39432;ADQ31928;ADR82716;CBH19458;CBH30751;EAX02204;EAX02205;NP_775770;Q6RVD6 Hs.326528 1686434 RH92026 MGC102678;MGC44294;SRG8 OTTHUMP00000194780;spermatogenesis-associated protein 8;spermatogenesis-related protein 8 protein-coding ENSG00000185594 HGNC:28676 15432 613948 PROVISIONAL 1345087 SPATA7 spermatogenesis associated 7 This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 14 14 14 q31.3 68897730 68950399 + 88851982 88904804 + 88385644 88470350 + 6480464;7240710;8554872;8699517 11076863;11230166;12477932;12508121;12736779;14702039;15489334;15489336;16344560;16381901;19268277;20104588;20301475;20301590;21130836;21310915;21832049;22136677;22219627;23870195;8125298;9799089 55812 G3V287;G3V2E1;G3V2V4;G3V3D2;G3V491;G3V4A9;G3V5H6;G3V5N2;G3V5V8;H0YJ48;H0YJ93;Q9P0W8;V9HVY9 ABBA01030532;AF144487;AF144488;AK055864;AK225746;AK290631;AK293007;AL049834;AL136604;AL162171;AL353786;AMYH02029697;AMYH02029698;BC008656;BC034635;BC037809;BC090875;CH471061;CR533563;CR936777;DA568174;EU668353;NG_021183;NM_001040428;NM_018418;XM_005267851;XM_005267852;XM_005267854;XM_005267855;XM_006720204;XM_006720205 AAF66077;AAF66078;AAH08656;AAH90875;ACF94506;BAF83320;BAF85696;BAG51586;CAB66539;CAD18999;CAG38594;CAL38116;EAW81376;EAW81377;EAW81378;EAW81379;EAW81380;EAW81381;NP_001035518;NP_060888;Q9P0W8;XP_005267908;XP_005267909;XP_005267911;XP_005267912;XP_006720267;XP_006720268 Hs.525518 1765291;2171681 SHGC-148790;WI-14643 DKFZp686D07199;HEL-S-296;HSD-3.1;HSD3;LCA3;MGC102934 OTTHUMP00000244291;OTTHUMP00000244292;OTTHUMP00000244304;epididymis secretory protein Li 296;spermatogenesis-associated protein 7;spermatogenesis-associated protein HSD3 APPROVED protein-coding ENSG00000042317 HGNC:20423 15431 604232;609868 REVIEWED 1317981 SPATA9 spermatogenesis associated 9 INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); spermatogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 5 5 5 q15 90872445 90897462 - 94987885 95018885 - 95652181 95683180 - 6480464;8554872 12477932;12493713;14702039;15489334;16344560;16963046;21946350 83890 Q9BWV2 ABBA01069249;AC008547;AC008840;AK093225;AK292338;AK310260;AMYH02011822;AY027526;BC032832;BC047333;BQ013593;CH471084;DB027274;NM_031952;NR_125327;NR_125328;NR_125329;NR_125330;XM_005272101;XR_246548;XR_246549 AAH32832;AAH47333;AAK16746;BAC04101;BAF85027;EAW96046;EAW96047;NP_114158;Q9BWV2;XP_005272158 Hs.50499 1689997;1697478;1698186;1718419 RH102240;RH102629;RH122411;RH98545 FLJ35906;NYD-SP16 OTTHUMP00000190889;spermatogenesis-associated protein 9;testis development protein NYD-SP16 protein-coding ENSG00000145757 HGNC:22988 12155 608039 VALIDATED 1344287 SPATC1 spermatogenesis and centriole associated 1 ENCODES a protein that exhibits gamma-tubulin binding (inferred); FOUND IN centrosome; INTERACTS WITH ketamine (ortholog) 8 8 8 q24.3 141422681 141430005 + 145086582 145102015 + 144012414 144047114 + 737633;6480464 12477932 15280373;16344560;20542897 375686 Q76KD6 AB092352;ABBA01005226;ABBA01005227;ABBA01005228;ABBA01232027;AC109322;AC206437;AK301710;AMYH02018950;AMYH02018951;AMYH02018952;BC050390;BC053547;CH471162;DB052198;NM_001134374;NM_198572;XM_005250911 AAH50390;AAH53547;BAD08232;BAG63181;EAW82167;NP_001127846;NP_940974;Q76KD6;XP_005250968 Hs.97726 1707826;2156300 RH77878;SHGC-82142 MGC61633;SPATA15 OTTHUMP00000211206;OTTHUMP00000211207;speriolin;spermatogenesis and centriole-associated protein 1;spermatogenesis-associated protein 15;spermatogenic cell-specific Cdc20-binding protein protein-coding ENSG00000186583 HGNC:30510 15433 610874 VALIDATED 1344058 SPATC1L spermatogenesis and centriole associated 1-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper atom; copper(0); diazinon 21 21 21 q22.3 32693446 32716761 - 47581062 47605167 - 46161148 46184694 - 6480464;8554872 10830953;11076863;11230166;12477932;15231747;15489334;15489336;16381901;21382349 84221 Q9H0A9 ABBA01021756;AC226155;AK304535;AK309847;AL136871;AMYH02037948;AMYH02037949;AMYH02037950;AP001468;AP001759;AW138006;BC009497;BC065570;BC084577;BC093804;BC112293;CH471079;CR533451;NM_001142854;NM_032261;XM_005261188;XM_006725399 AAH09497;AAH65570;AAH84577;AAH93804;AAI12294;ADR82844;BAA95497;BAG65335;CAB66805;CAG38482;CAL38578;CAL38595;EAX09306;EAX09307;NP_001136326;NP_115637;Q9H0A9;XP_005261245;XP_006725462 Hs.381214 1753629;1763899 SHGC-107520;SHGC-147567 C21orf56;DKFZp434N0650;MGC99490 OTTHUMP00000115562;OTTHUMP00000225512;hypothetical protein LOC84221;speriolin-like protein;spermatogenesis and centriole-associated protein 1-like protein;uncharacterized protein C21orf56 APPROVED protein-coding ENSG00000160284 HGNC:1298 10753 612412 VALIDATED 736705 SPATS1 spermatogenesis associated, serine-rich 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; indometacin; ammonium chloride (ortholog) 6 6 6 p21.1 45863578 45898081 + 44310383 44344904 + 44342660 44377167 + 6480464;8554872 12477932;20603214;21988832 221409 D6RF91;H0Y9A9;Q496A3 AA400657;ABBA01050639;AK058171;AL353588;AMYH02013658;AMYH02013659;BC100956;BC100957;BC100958;BC100959;BC110065;BC111414;CH471081;DB460008;NM_145026 AAI00957;AAI00958;AAI00959;AAI00960;AAI10066;AAI11415;BAB71701;EAX04269;NP_659463;Q496A3 Hs.135283 1701082;1786082;2127001;2138902 D6S2438;G15807;RH104168;SHGC-156116 DDIP;FLJ25442;MGC119210;MGC119211;MGC119212;MGC119213;MGC133020;SPATA8;SRSP1 OTTHUMP00000217363;spermatogenesis-associated serine-rich protein 1 protein-coding ENSG00000249481 HGNC:22957 10248 VALIDATED 1606531 SPC25 SPC25, NDC80 kinetochore complex component This gene encodes a protein that may be involved in kinetochore-microtubule interaction and spindle checkpoint activity. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 163352703 163372246 - 169727401 169747277 - 168870891 168890767 - 6480464;8554872 12477932;14699129;14738735;15371340;15489334;15815621;15961401;17207965;20360068;21139048;21890473;22371557;22505724;22678362;22863883;22939629;23000965;24816145;9585408 57405 C9JW94;Q9HBM1 ABBA01004958;ABBA01004959;AC069137;AC208170;AF225416;AK291093;AMYH02005174;AY456388;BC022255;CH471058;CR457197;NM_020675;XM_005246702;XM_005276750 AAG09718;AAH22255;AAR88652;AAY24098;ADQ32143;BAF83782;CAG33478;EAX11288;EAX11289;EAX11290;NP_065726;Q9HBM1;XP_005246759;XP_005276807 Hs.421956 AD024;MGC22228;SPBC25;hSpc25 2600017H08Rik;OTTHUMP00000163044;SPC25, NDC80 kinetochore complex component, homolog;kinetochore protein Spc25;spindle pole body component 25 homolog APPROVED protein-coding ENSG00000152253 HGNC:24031 15465 609395 REVIEWED 1312420 SPATS2 spermatogenesis associated, serine-rich 2 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2-methylcholine; bisphenol A; ethyl methanesulfonate 12 12 12 q13.12 48553967 48715667 + 49760688 49921208 + 49366905 49527424 + 6480464;8554872 11944913;12477932;14702039;15146197;16344560;17989879;20379614;21832049;22190034;22939629;23602568;24250222 65244 F8VRH4;F8VS10;F8VVF0;F8VX46;F8VX66;F8VXB3;F8VXP9;F8VZS5;F8W128;F8W1X1;Q86XZ4 AB075515;ABBA01031522;ABBA01031523;ABBA01031524;ABBA01031525;ABBA01031526;AC009246;AC078826;AC125611;AK023179;AK023202;AK024678;AK095582;AK292334;AL833614;AMYH02026445;AMYH02026446;AMYH02026447;BC017767;BC032441;BC048299;BG370341;BX648916;CH471111;CN421379;DB305045;NM_001293285;NM_001293286;NM_023071;NR_120663;XR_429112 AAH48299;BAB14448;BAB14460;BAB14958;BAE45760;BAF85023;EAW58068;EAW58069;EAW58070;EAW58071;NP_001280214;NP_001280215;NP_075559;Q86XZ4 Hs.654826 1336730;1690069;1690147;1699990;1712472;1712474;1746711;1774559;2130138;2160018;5014051;5022578;5022651;5024761;5037552;5121597 A002Y39;D11S2921;D12S1627;D1S1423;D8S2278;D8S2279;G54184;G54185;G64346;RH103605;RH36905;RH68475;RH80150;RH93010;SHGC-33198;SHGC-56536 FLJ13117;Nbla00526;P59SCR;SCR59;SPATA10 OTTHUMP00000241027;OTTHUMP00000241091;OTTHUMP00000241092;putative protein product of Nbla00526;serine-rich spermatocytes and round spermatid 59 kDa protein;serine-rich spermatocytes and round spermatid protein;spermatogenesis-associated serine-rich protein 2 protein-coding ENSG00000123352 HGNC:18650 15434 611667 VALIDATED 1607063 SPATS2L spermatogenesis associated, serine-rich 2-like ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; cobalt dichloride 2 2 2 q33.1 194925314 195101826 + 201170604 201346986 + 200305881 200482263 + 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15342556;15489336;16344560;16381901;17549794;18187620;19005571;19727025;19913121;20628086;21139048;22113938;22792082;23054586;23974872;24816145 26010 B8ZZZ7;C9IZC3;C9J8M7;C9JGM8;C9JKE4;C9JW67;F2Z2S1;F8VT91;F8VZ02;F8W6C2;F8WAV0;H7C2G5;Q4ZFW0;Q9NUQ6 ABBA01062511;ABBA01062512;ABBA01062513;ABBA01062514;ABBA01062515;AC012459;AC074213;AC105381;AF193059;AK002064;AK021816;AK024200;AK090703;AK090867;AK092917;AK290496;AK299223;AK300075;AK314561;AL110124;AL525852;AMYH02005536;AMYH02005537;AMYH02005538;AY450394;BC010848;BC018736;BC065817;BP310992;BQ030316;CH471063;CN480518;DB206952;DB454965;NM_001100422;NM_001100423;NM_001100424;NM_001282735;NM_001282743;NM_001282744;NM_015535;XM_005246454;XM_005246456;XM_005246457;XM_005246458;XM_005246459;XM_005246460;XM_006712409;XM_006712410 AAG22487;AAH18736;AAR21087;AAX88978;AAY24307;BAA92065;BAF83185;BAG61258;BAG61879;CAB53658;CAL37655;EAW70197;EAW70198;EAW70199;EAW70200;EAW70201;NP_001093892;NP_001093893;NP_001093894;NP_001269664;NP_001269672;NP_001269673;NP_056350;Q9NUQ6;XP_005246511;XP_005246513;XP_005246514;XP_005246515;XP_005246516;XP_005246517;XP_006712472;XP_006712473 Hs.120323 1644574;1651058;1716685;1734944;1734964;1753081;1755601;1772398;1784310;2122281;2148534;2172524;2176696;5021228;5022578;5022651 D11S2921;D1S1423;D2S1703E;D2S1714E;G28105;GDB:312794;RH121601;RH18299;RH69552;SHGC-142456;SHGC-35963;SHGC-52426;SHGC-57959;SHGC-68520;SHGC-79711;STS-AA010495 DKFZp564A2416;DNAPTP6;SGNP DNA polymerase transactivated protein 6;DNA polymerase-transactivated protein 6;OTTHUMP00000206197;OTTHUMP00000206209;OTTHUMP00000206210;OTTHUMP00000206211;OTTHUMP00000206212;OTTHUMP00000206214;OTTHUMP00000206215;OTTHUMP00000206290;OTTHUMP00000206401;SPATS2-like protein;stress granule and nucleolar protein protein-coding ENSG00000196141 HGNC:24574 10916 613817 VALIDATED 1346470 SPCS1 signal peptidase complex subunit 1 homolog (S. cerevisiae) ENCODES a protein that exhibits peptidase activity (inferred); ribosome binding (inferred); INVOLVED IN cellular protein metabolic process (inferred); gene expression (inferred); proteolysis (inferred); FOUND IN integral component of endoplasmic reticulum membrane; INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); Aroclor 1254 (ortholog) 3 3 3 p21.1 52718568 52720909 + 52739792 52742198 + 52705841 52708182 + 724719;1580863;6480464 8632014 11042152;12477932;14702039;15489334;21139048;21890473;21906983;21926972;21963094;22505724;23000965;23974872;24009510;24886551 28972 C9JBL1;Q9Y6A9;X6R2S6 ABBA01024499;AC104446;AF092138;AK027426;AMYH02006813;AX775783;AX775785;AX775787;AX775833;BC000884;BG724036;BI826431;BQ423345;BU070128;CA309210;CH471055;DB459917;L38852;NM_014041 AAD40380;AAH00884;AAL31361;BAG51320;CAE11591;CAE11592;CAE11593;CAE11616;EAW65257;NP_054760;Q9Y6A9 Hs.11125;Hs.297304 1662261;5014484 D3S4207;SGC30921 HSPC033;SPC1;SPC12;YJR010C-A OTTHUMP00000206958;OTTHUMP00000206959;SPase 12 kDa subunit;microsomal signal peptidase 12 kDa subunit;signal peptidase 12kDa;signal peptidase complex subunit 1 protein-coding ENSG00000114902 HGNC:23401 610358 VALIDATED 7241987 SPCS2P2 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 2 10 10 10 q24.31 95640768 95641692 - 101902829 101903753 - 100143072 100143996 - 644573 ABBA01063229;AL138921;AMYH02023650;NG_022158 pseudo HGNC:45235 INFERRED 1342746 SPCS2P1 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 1 15 15 15 q15.2 20194041 20194709 + 43423217 43423885 + 43131019 43131687 + 100131250;255320 ABBA01038353;AC068724;AMYH02030298;NG_022127;XM_170777 SPCS2P APPROVED pseudo HGNC:31885 INFERRED 1345346 SPCS2 signal peptidase complex subunit 2 homolog (S. cerevisiae) ENCODES a protein that exhibits peptidase activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); gene expression (inferred); proteolysis (inferred); FOUND IN endoplasmic reticulum membrane (inferred); integral component of membrane (inferred); signal peptidase complex (inferred); INTERACTS WITH atrazine; cisplatin; copper(2+) sulfate 11 11 11 q13.4 71966858 71996651 + 74660292 74690076 + 74949247 74979031 + 1580863;6480464 12477932;15342556;15489334;16169070;17207965;20029029;21139048;21890473;21906983;21963094;21987572;22082156;22190034;22505724;22645275;22939629;23142642;7788527 9789 E9PI68;E9PL01;E9PRB9;H0YE04;Q15005 AA921960;ABBA01017476;AK293128;AMYH02025111;AP001992;BC008063;BC064957;BC067821;BC070276;BC082231;BC106066;BP338843;CH471076;CQ834280;CQ834314;CR542233;CR542243;D14658;NM_014752 AAH08063;AAH64957;AAH70276;AAH82231;AAI06067;ADQ32607;BAA03492;BAG56680;CAG47029;CAG47039;CAH05355;CAH05372;EAW74952;NP_055567;Q15005 Hs.282700;Hs.719927 1667645;1699206;1738083;1748511;2126281;5020321;5107946 D11S1036;D11S3708;D8S1913;RH103184;RH25329;SGC30257;SHGC-32778 KIAA0102;MGC117366 OTTHUMP00000230031;OTTHUMP00000230032;OTTHUMP00000230034;SPase 25 kDa subunit;microsomal signal peptidase 25 kDa subunit;signal peptidase 25kDa subunit;signal peptidase complex subunit 2 protein-coding ENSG00000118363 HGNC:28962 15435 VALIDATED 7241954 SPCS2P3 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 3 5 5 p15.33 816461 817113 + 816346 816998 + 100288739 ABBA01034232;AC010427;AC026740;AMYH02010757;NG_021874 pseudo HGNC:45236 INFERRED 1604521 SPC24 SPC24, NDC80 kinetochore complex component INVOLVED IN mitotic cell cycle (inferred); mitotic nuclear division (inferred); FOUND IN Ndc80 complex; nucleolus; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 3,4-dichloroaniline 19 19 19 p13.2 11152645 11161296 - 11257444 11266563 - 11146768 11155887 - 6480464 12477932;14699129;14702039;14738735;15371340;15489334;15824131;15961401;15964272;16565220;20360068;21139048;21163940;21832049;21890473;21906983;21963094;22371557;22505724;22863883;22939629;23383273;23505323;24250222;24386095;24816145 147841 K7EJH0;K7EJV2;K7EMX1;K7ERQ7;K7ESQ2;Q8NBT2 ABBA01029869;ABBA01029870;AC011485;AK075287;AK303157;AK303266;AMYH02035522;AY456387;BC105037;BC105039;CH471106;CQ784019;NM_182513;XM_005259753 AAI05038;AAI05040;AAR88651;BAC11523;BAG64259;BAG64348;CAF86972;EAW84174;NP_872319;Q8NBT2;XP_005259810 Hs.381225 2119188;5014051;5015619;5015961;5020740;5022578;5022651;5037552 D11S2921;D11S3114;D15S1477;D1S1423;D8S2278;D8S2279;L17809;SHGC-58054 FLJ90806;SPBC24;hSpc24 SPC24, NDC80 kinetochore complex component, homolog;kinetochore protein Spc24;spindle pole body component 24 homolog APPROVED protein-coding HGNC:26913 15464 609394 PROVISIONAL 7241942 SPCS2P4 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 4 1 1 1 p35.3 26817084 26818707 - 28421546 28422969 - 28095035 28096458 - 22268729 653566 ABBA01035010;AL137792;AMYH02000617;CH471059;NG_006558 EAX07712 1667645;1748511 SGC30257;SHGC-32778 pseudo HGNC:45237 INFERRED 1353202 SPCS3 signal peptidase complex subunit 3 homolog (S. cerevisiae) ENCODES a protein that exhibits peptidase activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); gene expression (inferred); proteolysis (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; cobalt dichloride 4 4 4 q34.2 174568936 174581241 + 177241090 177253396 + 176319939 176332245 + 737633;6480464 12477932 11230166;11256614;12975309;14702039;15489334;16344560;17207965;18187620;21139048;21890473;21906983;21963094;21987572;22190034;22268729;22505724;24816145 60559 P61009 ABBA01070413;AC019163;AK026302;AK092634;AL136660;AMYH02010555;AY359044;BC043490;BC047290;BC053883;CH471056;CQ834702;DB285025;NM_021928 AAH47290;AAQ89403;ACE86569;ACE87252;ADQ33088;BAB15437;CAB66595;CAH05566;EAX04718;EAX04719;NP_068747;P61009 Hs.42194 1695088;2151994;2160734;5037552;5112323 D4S3217;D4S699;D8S2279;RH103378;SHGC-67361 DKFZp564J1864;FLJ22649;PRO3567;SPC22/23;SPC3;YLR066W OTTHUMP00000218989;SPase 22 kDa subunit;SPase 22/23 kDa subunit;microsomal signal peptidase 22/23 kDa subunit;microsomal signal peptidase 23 kDa subunit;signal peptidase complex subunit 3 protein-coding ENSG00000129128 HGNC:26212 08001 VALIDATED 1606089 SPDYC speedy/RINGO cell cycle regulator family member C ENCODES a protein that exhibits protein kinase binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH paracetamol 11 11 11 q13.1 62264025 62267006 + 64937707 64940688 + 65170236 65173217 + 6480464;8554872 12477932;15611625;18802405;20605920 387778 Q5MJ68 ABBA01024133;AMYH02024953;AP003068;AY820305;BC137244;BC137246;BC144548;CH471076;NM_001008778 AAI37245;AAI37247;AAI44549;AAW30396;EAW74363;NP_001008778;Q5MJ68 Hs.450642 Ringo2 OTTHUMP00000230443;RINGO C;RINGOC;hSpy/Ringo C;rapid inducer of G2/M progression in oocytes C;speedy C;speedy homolog C;speedy protein C APPROVED protein-coding ENSG00000204710 HGNC:32681 17367 614030 PROVISIONAL 1352707 SPDYA speedy/RINGO cell cycle regulator family member A ENCODES a protein that exhibits protein kinase binding; INVOLVED IN cellular response to DNA damage stimulus; G1/S transition of mitotic cell cycle; positive regulation of cell proliferation; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 1,3-dinitrobenzene (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog) 2 2 2 p23.2 28882807 28918487 + 29033462 29073476 + 28810834 28850610 + 6480464;8554872 11980914;12477932;12839962;12972555;14702039;15489334;15611625;15815621;16951407;17671428;19106603;19622356;19686732;22447439;22492278;24037419;24434210 245711 E7EPV1;H7C0J1;Q5MJ70 AA625975;ABBA01045239;ABBA01045240;AC097720;AC097724;AMYH02003498;AMYH02003499;AMYH02003500;AY820303;AY820304;BC047224;BC093005;CH471053;NM_001008779;NM_001142634;NM_182756 AAH93005;AAW30394;AAW30395;AAY24014;AAY24125;EAX00526;NP_001008779;NP_001136106;NP_877433;Q5MJ70 Hs.511956 1665822;1732401;1750183 D2S1237;SHGC-112267;WI-15096 MGC110856;MGC57218;RINGO A;RINGO3;SPDY1;SPY1 OTTHUMP00000082662;OTTHUMP00000082663;RINGOA;hSpy/Ringo A;rapid inducer of G2/M progression in oocytes A;speedy homolog 1 (drosophila);speedy homolog A;speedy homolog A (Drosophila);speedy protein A;speedy-1 APPROVED protein-coding ENSG00000163806 HGNC:30613 18095 614029 VALIDATED 2303832 SPDYE2 speedy/RINGO cell cycle regulator family member E2 INTERACTS WITH cadmium atom 7 7 7 q22.1 96999227 97008710 - 102191679 102202757 + 102551232 102563876 + 6480464 10737800;12477932;22763696 441273 I6XC90;Q495Y8 ABBA01063977;AC004084;AC093668;AC105052;AK302217;AMYH02016444;BC100973;BF809327;DR731150;JQ023160;NM_001031618;XM_006715997;XM_006715998 AAI00974;AFN41358;BAG63573;NP_001026789;Q495Y8;XP_006716060;XP_006716061 Hs.656428 5020968 D7S3265 MGC119295;SPDYB2-L1 OTTHUMP00000197246;OTTHUMP00000217365;Speedy B2-like 1;putative Speedy protein E2;speedy homolog E2;speedy protein E2 APPROVED protein-coding ENSG00000205238 HGNC:33841 VALIDATED 1605479 SPDYE3 speedy/RINGO cell cycle regulator family member E3 INTERACTS WITH PhIP 7 7 7 q22.1 94640656 94649590 + 99905325 99919819 + 100306822 100322196 + 6480464 12477932;12690205;12853948;15489334 441272 A6NKU9 ABBA01013219;ABBA01013220;AC005071;AMYH02016377;BC056606;BC100972;CH236956;NM_001004351;XM_006715996 A6NKU9;AAH56606;AAI00973;EAL23843;NP_001004351;XP_006716059 Hs.703626 5113775;5127400 RH46934;RH71228 MGC119294;MGC57359 OTTHUMP00000208044;Putative WBSCR19-like protein 7;putative Speedy protein E3;speedy homolog E3;speedy protein E3 APPROVED protein-coding ENSG00000214300 HGNC:35462 14693 VALIDATED 2303882 SPDYE5 speedy/RINGO cell cycle regulator family member E5 INTERACTS WITH cadmium atom 7 7 7 q11.23 60126265 60135618 + 74695028 75133628 + 75493182 75504304 + 6480464 12853948 442590 A6NIY4 AC018720;AC211429;NM_001099435;XM_005250368;XM_006715999 A6NIY4;NP_001092905;XP_005250425;XP_006716062 Hs.632298 5112255 RH102772 Williams Beuren syndrome chromosome region 19-like;putative Speedy protein E5;speedy homolog E5 APPROVED protein-coding ENSG00000170092 HGNC:35464 VALIDATED 1318473 SPDEF SAM pointed domain containing ETS transcription factor The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of prostate-specific antigen (PSA) promoter. Higher expression of this protein has also been reported in brain, breast, lung and ovarian tumors, compared to the corresponding normal tissues, and it shows better tumor-association than other cancer-associated molecules, making it a more suitable target for developing specific cancer therapies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 6 6 6 p21.3 36059916 36078425 - 34505579 34524110 - 34537802 34556333 - 1580863;2298935;6480464 18567002 10625666;10675039;11809674;12477932;12700667;12907642;14574404;14719083;15489334;15523673;15882048;16237704;16357167;17197890;17347682;17521701;17971898;18579687;18816836;18846421;19203193;19505923;19786015;19830706;20139077;20211142;20550708;21275604;21446014;21656828;21764212;22378487;22761428;23012424;23376423;23449978;23592399;23665202;23671562;23764000;23921628;24027338;6857767 25803 O95238 AB031549;ABBA01038192;AF071538;AK301543;AL157372;AMYH02013519;AMYH02013520;AMYH02013521;AX048148;AX048159;AX175516;BC021299;BX255971;CH471081;NM_001252294;NM_012391;XM_005248988;XM_006715048 AAC95296;AAH21299;ABZ92226;ACE87089;ACE87768;BAA89543;BAG63040;CAC19002;CAC19004;CAC43877;CAI23605;EAX03788;NP_001239223;NP_036523;O95238;XP_005249045;XP_006715111 Hs.485158 1776712 RH37412 PDEF;RP11-375E1__A.3;bA375E1.3 OTTHUMP00000016234;SAM pointed domain-containing Ets transcription factor;prostate epithelium-specific Ets transcription factor;prostate-derived Ets factor;prostate-specific Ets APPROVED protein-coding ENSG00000124664 HGNC:17257 12176 608144 REVIEWED 1606284 SPDL1 spindle apparatus coiled-coil protein 1 ENCODES a protein that exhibits enzyme binding; kinetochore binding; INVOLVED IN establishment of mitotic spindle orientation; mitotic metaphase plate congression; protein localization to kinetochore; FOUND IN condensed chromosome outer kinetochore; nucleus; spindle pole; INTERACTS WITH 17beta-estradiol; 2-methylcholine; aflatoxin B1 5 5 5 q35.1 165042230 165063368 + 169010638 169031782 + 169583634 169604778 + 6480464 12477932;14702039;15342556;15489334;16169070;19468067;20427577;20439434;21139048;22558309;22863883;22939629;23382074;24250222 54908 D6R936;D6RC83;D6RCL1;D6RDK5;D6REZ1;D6RIB8;D6RIF7;H0YBG5;H7C5V2;Q96EA4 ABBA01044108;AC008680;AF269167;AK000371;AK074227;AK098009;AK304623;AK308835;AK310442;AMYH02012710;AY517557;BC012568;BP295943;BU166207;CA417197;CD653505;CH471062;DC379275;NM_017785;XM_005265938;XM_006714888;XM_006714889 AAG01408;AAH12568;AAT44530;ADZ15559;BAA91119;BAB85022;BAG65405;EAW61495;EAW61496;NP_060255;Q96EA4;XP_005265995;XP_006714951;XP_006714952 Hs.368710 1748893;2116745;2144091 RH48014;RH78613;SHGC-110560 CCDC99;FLJ20364;FLJ40690 OTTHUMP00000160995;OTTHUMP00000223150;Spindly;arsenite-related gene 1 protein;coiled-coil domain containing 99;coiled-coil domain-containing protein 99;hSpindly;rhabdomyosarcoma antigen MU-RMS-40.4A;rrhabdomyosarcoma antigen protein MU-RMS-40.4A;spindle apparatus coiled-coil domain-containing protein 1;spindly homolog APPROVED protein-coding ENSG00000040275 HGNC:26010 08623 VALIDATED 2303833 SPDYE7P speedy/RINGO cell cycle regulator family member E7, pseudogene INTERACTS WITH cadmium atom 7 7 7 q11.23 60127906 60134393 + 72333321 72339656 - 72862757 72869091 - 6480464 12477932 441251 Q495Y7 ABBA01063977;AC005488;AC211469;BC100974;NR_003666 Q495Y7 Hs.591819 1335033 D10S1151 MGC119297 APPROVED pseudo ENSG00000179994 HGNC:35466 VALIDATED 2303825 SPDYE6 speedy/RINGO cell cycle regulator family member E6 7 7 q22.1 101986192 101997468 - 102345752 102357023 - 11181995;12853948 729597 P0CI01 AC005088;AC091390;AMYH02016435;CH471197;NM_001146210;XM_006716105;XM_006716106 EAW50235;EAW50236;EAW50237;NP_001139682;P0CI01;XP_006716168;XP_006716169 5020968;5112255 D7S3265;RH102772 putative speedy protein E6;speedy homolog E6 APPROVED protein-coding ENSG00000166667 HGNC:35465 INFERRED 7207164 SPDYE9P speedy/RINGO cell cycle regulator family member E9, pseudogene 7 7 q11.23 74939286 74946587 + 75280208 75344849 + 21909109;9847074 643909 AC004878;AC006014;AC211476;NG_006532 5127400 RH71228 speedy homolog E9 (Xenopus laevis), pseudogene APPROVED pseudo HGNC:45034 INFERRED 2303884 SPDYE8P speedy/RINGO cell cycle regulator family member E8, pseudogene INTERACTS WITH all-trans-retinoic acid; cadmium atom; silicon dioxide 7 7 q11.23 72518322 72525621 - 73019731 73027029 - 6480464 12477932;9847074 728524 AC005488;AC006995;AC211476;BC045636;BC068610;BC110795;NR_003664 Hs.571275;Hs.592259 5020968;5127400 D7S3265;RH71228 MGC131642;MGC48646 APPROVED pseudo HGNC:33771 VALIDATED 2303837 SPDYE4 speedy/RINGO cell cycle regulator family member E4 17 17 17 p13.1 8687309 8692763 - 8650849 8661977 - 8747531 8758655 - 12477932 388333 A6NLX3;J3KT05;J3QR45 ABBA01054925;AC009451;AMYH02032934;BC146949;BC146966;BC171861;NM_001128076;XM_005256632;XM_005256633 A6NLX3;AAI46950;AAI46967;NP_001121548;XP_005256689;XP_005256690 Hs.368429 putative Speedy protein E4;speedy homolog E4;speedy protein E4 APPROVED protein-coding ENSG00000183318 HGNC:35463 PROVISIONAL 1345167 SPDYE1 speedy/RINGO cell cycle regulator family member E1 This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008] 7 7 7 p13 11097 14063 - 44038552 44049723 + 43998953 44010124 + 6480464 12073013;15574121 285955 A6NJR5;Q8NFV5 ABBA01005871;ABBA01058208;ABBA01058209;ABBA01058210;AC004951;AF412027;AL137266;AMYH02015615;NM_175064;XM_005249718;XM_005249719;XM_006715702 A6NJR5;AAI67785;AAM62309;CAB70665;NP_778234;Q8NFV5;XP_005249775;XP_005249776;XP_006715765 Hs.645483 DKFZp434A1014;Ringo1;WBSCR19 OTTHUMP00000159236;SPDYE;Speedy E;Williams Beuren syndrome chromosome region 19 protein;putative WBSCR19-like protein 6;speedy homolog E1;speedy protein E1;williams-Beuren syndrome chromosomal region 19 protein APPROVED protein-coding ENSG00000136206 HGNC:16408 11677 VALIDATED 7243324 SPDYE2B speedy/RINGO cell cycle regulator family member E2B 7 7 q22.1 102290772 102302531 + 102650325 102662084 + 12853948 100310812 A6NHP3 AC105052;AMYH02016441;AMYH02016442;NM_001166339;XM_005250093;XM_006715821 A6NHP3;NP_001159811;XP_005250150;XP_006715884 Hs.433879 5020968 D7S3265 SPDYE2L WBSCR19-like protein 3;putative WBSCR19-like protein 3;putative speedy protein E2-like protein;speedy protein E2B protein-coding ENSG00000173678 HGNC:48334 VALIDATED 1344375 SPEER2 spermatogenesis associated glutamate-rich protein 2 442873 HGNC:23001 1344029 SPEER1 spermatogenesis associated glutamate-rich protein 1 442872 HGNC:22996 1606479 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 17 17 17 p11.2 17404264 17631972 + 19912649 20218072 + 20009336 20314759 + 6480464 12477932;14702039;15087372;15146197;15342556;15489334;15602574;16344560;16751776;17081983;18763323;20237420;20360068;20379614;21139048;21311098;21906983;21963094;22170762;23251661;23398456;24163370;24457600 92521 B4DW07;B4E2A4;J3KRB9;J3KRD8;J3KRN9;J3KS18;J3KSG2;J3KTH6;J3KTI9;J3QKL1;J3QQM0;J3QRQ9;J3QS22;J3QSD6;Q5M775 AB041533;ABBA01054582;ABBA01054583;ABBA01054584;ABBA01054585;ABBA01054586;ABBA01054587;ABBA01054588;ABBA01054589;ABBA01054590;AC004702;AC005730;AC007963;AC008088;AI950511;AK295093;AK295811;AK298601;AK301318;AK304186;AK314341;AMYH02033179;AMYH02033180;AMYH02033181;AMYH02033182;AMYH02033183;AMYH02033184;AMYH02033185;AY816326;AY816327;AY816328;AY816329;BC021123;BC033618;BC037532;BC050058;BK005598;BP287096;BP309862;CA427363;CH471212;CN267630;CN361555;DA058164;DC336225;KF456259;NG_029768;NM_001033553;NM_001033554;NM_001033555;NM_001243438;NM_001243439;NM_152904;XM_005256859;XM_005256860;XM_006721592;XM_006721593;XM_006721594 AAH21123;AAH33618;AAH50058;AAW29999;AAW30000;AAW30001;AAW30002;BAB16440;BAG58132;BAG58629;BAG60786;BAG62869;BAG65066;DAA05629;DAA05630;DAA05631;DAA05632;EAW50914;EAW50915;EAW50916;EAW50917;EAW50918;EAW50919;EAW50920;EAW50921;NP_001028725;NP_001028726;NP_001028727;NP_001230367;NP_001230368;NP_690868;Q5M775;XP_005256916;XP_005256917;XP_006721655;XP_006721656;XP_006721657 Hs.431045 1676710;1678717;1680389;1681702;1682858;1693648;1719207;1783458;1849918;1853451;1855468;1855854;2135508;2141249;5093378;5109281 A009N28;D1S1425;G32683;RH123322;RH26729;RH27079;RH64975;RH64978;RH65077;RH71161;SGC31181;SGC33556;SGC33585;SHGC-106909;SHGC-58566;STS-R89252 CYTSB;FLJ36955;HCMOGT-1;HCMOGT1;NSP;NSP5 OTTHUMP00000065842;OTTHUMP00000065843;OTTHUMP00000065844;OTTHUMP00000065845;cytokinesis and spindle organization B;cytospin B;cytospin-B;nuclear structure protein 5;sperm antigen HCMOGT 1;sperm antigen HCMOGT-1;sperm antigen with calponin homology and coiled coil domains 1;sperm antigen with calponin-like and coiled coil domains 1;structure protein NSP5a3a;structure protein NSP5a3b;structure protein NSP5b3a;structure protein NSP5b3b APPROVED protein-coding ENSG00000128487 HGNC:30615 12301 608793 REVIEWED 1343609 SPEER4A spermatogenesis associated glutamate-rich protein 4A 442875 HGNC:23003 1347819 SPEER3 spermatogenesis associated glutamate-rich protein 3 442874 HGNC:23002 1347172 SPEER4B spermatogenesis associated glutamate-rich protein 4B 442876 HGNC:23004 1603682 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013] 22 22 22 q11.23 8467175 8613432 + 24666785 24813708 + 24270817 24417740 + 6480464;8699517;7240710;8554872 10508479;12477932;14702039;15146197;16344560;17081983;17289029;20473970;20682791;20936779;21139048;21703590;21890473;22238572;22505724;23000965;23314748;23398456;24250222;3398011;8889548;9205841 23384 B2RMV2;C9J8U1;C9JLY8;Q69YQ0 AA773104;AB002374;ABBA01055135;ABBA01055136;AK025531;AK097129;AK301482;AL832425;AMYH02038141;AMYH02038142;AP000354;AP000355;AY884293;BC005093;BC013085;BC021132;BC041571;BC068611;BC136471;BM126792;BM556934;BM720120;BQ929263;CH471095;CN334545;DA385554;HY105216;KC877946;NG_031915;NM_001145468;NM_001254732;NM_001254733;NM_015330 AAI36472;AAX84184;BAA21574;BAH13494;CAH10609;EAW59656;EAW59657;NP_001138940;NP_001241661;NP_001241662;NP_056145;Q69YQ0 Hs.474384 1652497;1675259;1685650;1770147;1784514;1784522;2125416;2167249;5017446 AL031645;ATTT019M;D22S1004E;RH46355;RH93892;SHGC-170333;SHGC-170349;SHGC-60202;STS-W88747 KIAA0376;OBLFC1 CYTSA;OTTHUMP00000198459;SPECC1-like protein;cytokinesis and spindle organization A;cytospin A;cytospin-A;renal carcinoma antigen NY-REN-22 APPROVED protein-coding ENSG00000100014 HGNC:29022 11080 600251;614140 REVIEWED 1354004 SPEER4D spermatogenesis associated glutamate-rich protein 4D 442878 HGNC:23006 1345326 SPEER4E spermatogenesis associated glutamate-rich protein 4E 442879 HGNC:23007 1342954 SPEER4F spermatogenesis associated glutamate-rich protein 4F 442880 HGNC:23008 1352079 SPEER5 spermatogenesis associated glutamate-rich protein 5 442881 HGNC:23009 1345693 SPEER6 spermatogenesis associated glutamate-rich protein 6 442882 HGNC:23010 1349168 SPEER7 spermatogenesis associated glutamate-rich protein 7 442883 HGNC:23011 1350780 SPEER4C spermatogenesis associated glutamate-rich protein 4C 442877 HGNC:23005 1352557 SPEER8 spermatogenesis associated glutamate-rich protein 8 442884 HGNC:23012 1343688 SPEER9 spermatogenesis associated glutamate-rich protein 9 442885 HGNC:23013 1602954 SPEM1 spermatid maturation 1 INVOLVED IN sperm individualization (inferred); sperm motility (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); INTERACTS WITH cadmium dichloride; C60 fullerene (ortholog) 17 17 17 p13.1 7349564 7350836 + 7323652 7324956 + 7420360 7421632 + 6480464;8554872 12477932;14702039;17426145;20558241;21184802 374768 Q8N4L4 ABBA01054865;AC113189;AK097400;AMYH02032901;BC033882;CS111500;CS111510;NM_199339 AAH33882;BAC05034;CAJ09938;CAJ09939;NP_955371;Q8N4L4 Hs.710599 1740195;2169169;2170128 A005P18;D17S1783;RH15991 C17orf83;FLJ40081 chromosome 17 open reading frame 83;spermatid maturation protein 1 protein-coding ENSG00000181323 HGNC:32429 14188 615116 PROVISIONAL 1605340 SPEF2 sperm flagellar 2 ENCODES a protein that exhibits protein dimerization activity (inferred); INVOLVED IN axoneme assembly (inferred); brain morphogenesis (inferred); embryonic neurocranium morphogenesis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Golgi apparatus (inferred); manchette (inferred); sperm midpiece (inferred); INTERACTS WITH amiodarone; copper(2+) sulfate; ammonium chloride (ortholog) 5 5 5 p13.2 35500093 35700401 + 35617900 35814713 + 35617798 35814611 + 6480464;8554872 11214970;12477932;14702039;15174051;16344560;16549801;17370265;17610085;19240061;20379614;21244703;23648065;7566098;8125298 79925 D6RAJ9;D6RD80;D6REZ4;D6RGZ5;H0Y8H6;H0Y906;H0Y989;H0YAC0;Q9C093 AA328954;AB051557;ABBA01024153;ABBA01024154;ABBA01024155;ABBA01024156;ABBA01039253;ABBA01039254;ABBA01039255;AC025448;AC112204;AC116333;AC137810;AC142209;AK026817;AK027230;AK058124;AK094564;AK097547;AK225586;AK225607;AL832607;AMYH02011159;AMYH02011160;AMYH02011161;AMYH02011162;BC016773;BC067761;BC110984;BQ576090;BX648691;CB955825;CH471119;DA295300;EF553528;NM_024867;NM_144722;XM_005248376;XM_005248377;XM_005248378;XM_006714500;XM_006714501 AAI10985;AAI56529;AAI72520;BAB15563;BAB15700;BAB21861;BAB71674;EAW55920;EAW55921;EAW55922;EAW55923;NP_079143;NP_653323;Q9C093;XP_005248433;XP_005248434;XP_005248435;XP_006714563;XP_006714564 Hs.298863 1335428;1725119;1747653;1780050;2110897;2114500;7183702;7186232 D5S395;D5S521E;G65480;RH118857;SGC38369;SHGC-154301 CT122;FLJ23164;FLJ23577;FLJ25395;KIAA1770;KPL2;MGC102842 OTTHUMP00000161739;OTTHUMP00000221228;OTTHUMP00000221231;cancer/testis antigen 122;sperm flagellar protein 2 protein-coding ENSG00000152582 HGNC:26293 11181 610172 VALIDATED 7377486 SPECC1L-ADORA2A SPECC1L-ADORA2A readthrough (NMD candidate) This locus represents naturally occurring readthrough transcription between the neighboring SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) genes on chromosome 22. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013] 22 22 q11.23 24666785 24838328 + 24270817 24442360 + 6480464;8554872 22238572 101730217 F8WAN1 AB209022;ABBA01055135;ABBA01055136;ABBA01055137;AMYH02038141;AMYH02038142;AP000354;AP000355;GR939218;GR939229;GR939241;GR939262;GR939274;GR939286;GR939298;GR939310;GR939322;GR939334;GR939358;GR939370;GR939382;GR939394;KC877946;NR_103546 BAD92259 Hs.474384 ncrna ENSG00000258555 HGNC:49185 VALIDATED 1349587 SPESP1 sperm equatorial segment protein 1 The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010] 15 15 15 q23 46111968 46128285 + 69222839 69239150 + 68930500 68946811 + 6480464;8554872 12477932;12773409;12975309;15489334;17207965;17978344;23503679 246777 Q6UW49 ABBA01038770;AC087639;AF275321;AMYH02030694;AY358983;BC017998;BG720873;BM564110;CH471082;NG_030464;NM_145658 AAH17998;AAM69364;AAQ89342;ADQ32233;EAW77829;NP_663633;Q6UW49 Hs.657932 2185493 STS-H15004 ESP;MGC24663;SP-ESP OTTHUMP00000164446;equatorial segment protein;glycosylated 38 kDa sperm protein C-7/8 APPROVED protein-coding ENSG00000258484 HGNC:15570 15436 609399 REVIEWED 1606126 SPERT spermatid associated FOUND IN cytoplasmic membrane-bounded vesicle (ortholog); INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl (ortholog); C60 fullerene (ortholog); valproic acid (ortholog) 13 13 13 q14.13 27331110 27343357 + 46276446 46288694 + 45702304 45714559 + 6480464 12204287;12477932;14702039;16189514;20096028;24722188 220082 E9PLB4;Q8NA61 ABBA01050980;AK093129;AK292350;AL139320;AMYH02027979;BC027609;HC007310;HC044641;HY007057;HY016268;HY017873;HY026582;NM_001286341;NM_001286342;NM_152719;XM_006719774 AAH27609;ADZ15925;BAC04067;BAF85039;CBH19460;CBH30650;NP_001273270;NP_001273271;NP_689932;Q8NA61;XP_006719837 Hs.186363 2107451;2114084 AB070178;NURIT__7154 CBY2;FLJ35810 NURIT;OTTHUMP00000018354;chibby homolog 2;novel leucine zipper testicular protein;spermatid flower-like structure protein;spermatid-associated protein;testis specific leucine zipper protein nurit;testis-specific leucine zipper protein nurit protein-coding ENSG00000174015 HGNC:30720 14856 VALIDATED 1352500 SPG12 spastic paraplegia 12 (autosomal dominant) ASSOCIATED WITH Spastic paraplegia 12, autosomal dominant (inferred) 7240710 10677333 23675 HGNC:11227 604805 1343240 SPG13 spastic paraplegia 13 (autosomal dominant) ASSOCIATED WITH Leukodystrophy, Hypomyelinating, 4 (inferred); Spastic paraplegia 13, autosomal dominant (inferred) 7240710 10677329 56733 HGNC:11228 605280;612233 1351137 SPG14 spastic paraplegia 14 (autosomal recessive) ASSOCIATED WITH Spastic paraplegia 14, autosomal recessive (inferred) 7240710 10877981 57309 1340874;7186530 D3S1601 HGNC:13730 605229 1350979 SPEN spen family transcriptional repressor This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008] 1 1 1 p36 14654230 14746824 + 16174359 16266951 + 15847864 15940455 + 1580863;6480464;6484113;8554872 1020939;10231032;10451362;11331609;11867749;12374742;12897056;14702039;15062576;15302935;15604093;15824732;16129689;16287852;16583136;16710414;16713569;16964243;17081983;17234755;17474147;18029348;18332109;18854154;19056867;19454010;19596686;20460484;21139048;21637295;21890473;21906983;21988832;22586326;22939629;23000965;23667531;24268649;24457600;24748666;24816145 23013 F6WRY4;H0Y5U7;Q96T58 AB023146;ABBA01004687;ABBA01004688;ABBA01004689;ABBA01004690;AF085964;AF356524;AK000882;AK022949;AK092332;AK127577;AL034555;AL096858;AL450998;AMYH02000373;AMYH02000374;AMYH02000375;CH471167;HI573954;NM_015001 AAK52750;BAA76773;BAA91405;BAB14324;CAB51072;CBX47466;EAW51756;NP_055816;Q96T58 Hs.744843 1662236;1664916;1664918;1667743;1677862;1684264;1707208;1735458;1855862;2119016;2166127;5107550 A001T05;AL009746;D1S1864E;D1S1975E;G19614;RH45538;RH45700;RH48282;RH80734;SHGC-74266;SHGC-74272;SHGC-79191 HIAA0929;KIAA0929;MINT;RBM15C;RP1-134O19.1;SHARP Msx2 interacting nuclear target (MINT) homolog;OTTHUMP00000010982;SMART/HDAC1 associated repressor protein;SMART/HDAC1-associated repressor protein;msx2-interacting protein;nuclear receptor transcription cofactor;spen homolog, transcriptional regulator APPROVED protein-coding ENSG00000065526 HGNC:17575 10230 613484 REVIEWED 1353805 SPG15 spastic paraplegia 15 (complicated, autosomal recessive) ASSOCIATED WITH Spastic paraplegia 15, autosomal recessive (inferred) 7240710 207106 HGNC:11229 270700 1347040 SPG11 spastic paraplegia 11 (autosomal recessive) The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 15 15 15 q14 21744647 21845628 - 44854894 44955876 - 44562696 44663678 - 6480464;7240710;8554872;8699517 10408536;11347906;12477932;14702039;16344560;16699786;17322883;17717710;17897319;18029348;18067136;18079167;18332254;18337587;18361476;18408091;18439221;18663179;18717728;18835492;19040626;19084844;19087158;19105190;19194956;19196735;19224311;19513778;19917823;20110243;20301389;20301682;20379614;20390432;20669327;20971220;21035867;21139048;21440262;21545838;21890473;21906983;21963094;22154821;22237444;22505724;22696581;23121729;23221952;23825025;24085347;24090761;24250222;24315199;8125298;8206979 80208 C4B7M2;H0YK24;H0YKC1;H0YKY8;H0YLK0;H0YLK7;H0YLR8;H0YM73;H0YN34;H0YN96;Q96JI7 AB058743;AB470308;AB470309;AB470310;AB470311;AB470312;ABBA01039198;ABBA01039199;ABBA01039200;ABBA01039201;ABBA01039202;ABBA01039203;AC009996;AK025092;AK057869;AK091176;AK094331;AK225186;AL834168;AMYH02030344;AMYH02030345;BC024161;BC047416;BC067798;BC094704;BC150640;BC153879;CH471082;DA926289;NG_008885;NM_001160227;NM_025137;XM_005254694;XM_005254695;XM_006720699;XM_006720700;XM_006720701 AAH24161;AAH67798;AAH94704;AAI50641;AAI53880;BAB15065;BAB47469;BAC03600;BAC04333;BAH58758;BAH58759;BAH58760;CAH10686;EAW77272;EAW77273;NP_001153699;NP_079413;Q96JI7;XP_005254751;XP_005254752;XP_006720762;XP_006720763;XP_006720764 Hs.656271;Hs.683876 1298310;1335583;1336480;1341689;1652397;1673139;1673955;1680585;2111226;2111236;2125767;2179547;7187979 D15S1007;D15S1012;D15S118;D15S1325;D15S482;D15S489;D15S971;RH15713;RH78726;RH79982;SGC33828;STS-T97010 DKFZp762B1512;FLJ21439;KIAA1840 OTTHUMP00000161846;colorectal carcinoma-associated protein;spastic paraplegia 11 protein;spatacsin APPROVED protein-coding ENSG00000104133 HGNC:11226 07963 604360;610844 REVIEWED 1344469 SPG17 spastic paraplegia 17 (Silver syndrome) ASSOCIATED WITH Lipodystrophy, Congenital Generalized (inferred); Neuronopathy, Distal Hereditary Motor, Type V (inferred); Spastic paraplegia 17 (inferred) 7240710 11389484 64408 HGNC:13624 269700;270685;600794;615924 1349854 SPG19 spastic paraplegia 19 (autosomal dominant) ASSOCIATED WITH Spastic paraplegia 19, autosomal dominant (inferred) 7240710 140907 1336577;1337150 D9S1776;D9S1826 HGNC:16706 607152 1353816 SPG16 spastic paraplegia 16 (complicated, X-linked recessive) ASSOCIATED WITH Spastic paraplegia 16, X-linked (inferred) 7240710 10982473;10982474 57760 1702938;1702942 DXS135;DXS981 HGNC:14260 300266 1347039 SPG18 spastic paraplegia 18 (autosomal dominant) ASSOCIATED WITH Spastic Paraplegia 18, Autosomal Recessive (inferred) 7240710 140906 HGNC:18009 611225 1322632 SPEF1 sperm flagellar 1 FOUND IN axoneme (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cadmium dichloride (ortholog); mono(2-ethylhexyl) phthalate (ortholog) 20 20 20 p13 3820021 3823972 - 3758151 3762113 - 3777504 3781466 - 6480464 11230166;11780052;12477932;15489334;15979255;16189514;16206169;16344560 25876 Q9Y4P9 ABBA01053831;AI925267;AK313766;AL040853;AL080154;AL109804;AMYH02036604;AMYH02036605;BC022476;BI520334;CH471133;DB030684;DB033051;EF560745;NM_015417;XM_005260683 AAH22476;ABQ59055;ADZ15948;BAG36504;CAB45745;EAX10503;EAX10504;EAX10505;NP_056232;Q9Y4P9;XP_005260740 Hs.72620 2180450;2191213 MARC_16301-16302:1017419382:3;RH48567 C20orf28;CLAMP;DKFZp434I114;SPEF1A OTTHUMP00000030123;calponin-homology and microtubule-associated protein;sperm flagellar protein 1 protein-coding ENSG00000101222 HGNC:15874 09839 610674 VALIDATED 1350179 SPG24 spastic paraplegia 24 (autosomal recessive) ASSOCIATED WITH Spastic paraplegia 24 (inferred) 7240710 12499481 338090 1339674;7186363 D13S270 HGNC:22993 607584 1344938 SPG23 spastic paraplegia 23 (autosomal recessive) ASSOCIATED WITH Spastic paraplegia 23 (inferred) 7240710 14681889 353293 HGNC:21340 270750 5131323 SPG20-AS1 SPG20 antisense RNA 1 13 13 13 q13.3 17987761 18011069 + 36919950 36944354 + 36346431 36369735 + 12107413 100507135 P0CW21 ABBA01021358;ABBA01021359;AL139377;AMYH02027865;AW292824;BF732820;CD674079;CH471075;KF455764;LN608472;LN608473;LN608474;NG_011559;NR_045180;NR_045181 EAX08564;P0CW21 Hs.631781 C13orf43;KIAA0610;SPG20OS OTTHUMP00000195706;chromosome 13 open reading frame 43 APPROVED ncrna ENSG00000120664 HGNC:39933 VALIDATED 1343849 SPG25 spastic paraplegia 25 (autosomal recessive, with disc herniation) ASSOCIATED WITH Spastic paraplegia 25, autosomal recessive (inferred) 7240710 12070243 387583 1298112;1340789 D6S1699;D6S314 HGNC:25855 608220 734132 SPEG SPEG complex locus This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Studies in mouse have determined that a lack of this protein affected myocardial development. Multiple alternatively spliced transcript variants have been reported for this gene, but the full-length nature of only two variants that encode different protein isoforms has been defined. [provided by RefSeq, Mar 2010] 2 2 2 q35 214069692 214128346 + 220299552 220358354 + 219434877 219493632 + 6480464;8554872;8699517 10318857;10718198;12477932;14702039;15185077;15489334;15784173;15815621;16344560;16354304;16545539;19913121;20628086;21150319;21832049;22623531;23444366;8663449;8889548 10290 B9ZVR7;C9J8D8;C9JWU5;F8WCA7;G5E9J7;H0Y3W0;H7BZM6;H7C3Y5;Q15772 AB037718;ABBA01023840;ABBA01023841;AC053503;AK055387;AK098307;AK126500;AK128689;AK129604;AK289531;AL535839;AMYH02005822;AMYH02005823;AY603755;BC006346;BM677138;CH471063;CR542201;DA063220;DQ395348;NM_001173476;NM_005876;U57099;XM_005246235;XM_005246236;XM_005246237;XM_005246238;XM_005246239;XM_005246240;XM_005246241;XM_005246242;XM_006712187;XM_006712188;XM_006712189;XM_006712190;XM_006712191;XM_006712192;XM_006712193;XM_006712194 AAC50599;AAH06346;AAT80901;AAY15052;ABD61734;BAA92535;BAC86568;BAF82220;CAG46998;EAW70742;EAW70743;EAW70744;EAW70745;EAW70746;EAW70747;EAW70748;EAW70749;EAW70750;EAW70751;NP_001166947;NP_005867;Q15772;XP_005246292;XP_005246293;XP_005246294;XP_005246295;XP_005246296;XP_005246297;XP_005246298;XP_005246299;XP_006712250;XP_006712251;XP_006712252;XP_006712253;XP_006712254;XP_006712255;XP_006712256;XP_006712257 Hs.21639 1663350;1665042;1665044;1734844;1799238;1799480;1799776;1800720;1801614;1802340;1802650;1803234;1803236;1803490;1803742;1804100;1804588;1805524;1806046;1806166;1806564;1807406;1807480;1807676;1807998;1809940;1811286;1811912;1812490;1813772;1813774;1813858;1814028;1814174;1814242;1816170;1817192;1818408;1818464;1818982;1821028;1822626;1822628;1822690;1823910;1824690;1824692;1825174;1825642;1825720;1826046;1827198;1827276;1827446;1827634;1827774;1828842;1828844;1828938;1829036;1829866;1829980;1831494;1832330;1836078;1836272;1837328;1837984;1838236;1839442;1842440;1963882;1963884;1963886;1963888;1963890;1963892;1963894;1963896;1963898;1963900;1963902;1963904;1963906;1963908;1963910;1963912;1963914;1963916;1963918;1963920;1963922;1963924;1963926;1963928;1963930;1963932;1963934;1963936;1963938;1963940;1963942;1963944;1963946;1963948;1963950;1963952;1963954;1963956;1963958;1963960;1963962;1963964;1963966;1963968;1963970;1963972;1963974;1963976;1963978;1963980;1963982;1963984;1963986;1963988;1963990;1963992;1963994;1963996;1963998;1964000;1964002;1964004;1964006;1964008;1964010;1964012;1964014;1964016;1964018;1964020;1964022;1964024;1964026;1964028;1964030;1964032;1964034;1964036;1964038;1964040;1964042;1964044;1964046;1964048;1964050;1964052;1964054;1964056;1964058;1964060;1964062;1964064;1964066;1964068;1964070;1964072;1964074;1964076;1964078;1964080;1964082;1964084;1964086;1964088;1964090;1964092;1964094;1964096;1964098;1964100;1964102;1964104;1964106;1964108;1964110;1964112;1964114;1964116;1964118;1964120;1964122;1964124;1964126;1964128;1964130;1964132;1964134;1964136;1964138;1964140;1964142;1964144;1964146;1964148;1964150;1964152;1964154;1964156;1964158;1964160;1964162;1964164;1964166;1964168;1964170;1964172;1964174;1964176;1964178;1964180;1964182;1964184;1964186;1964188;1964190;1964192;1964194;1964196;1964198;1964200;1964202;1964204;1964206;1964208;1964210;1964212;1964214;1964216;1964218;1964220;1964222;1964224;1964226;1964228;1964230;1964232;1964234;1964236;1964238;1964240;1964242;1964244;1964246;1964248;1964250;1964252;1964254;1964256;1964258;1964260;1964262;1964264;1964266;1964268;1964270;1964272;1964274;1964276;1964278;1964280;1964282;1964284;1964286;1964288;1964290;1964292;1964294;1964296;1964298;1964300;1964302;1964304;1964306;1964308;1964310;1964312;1964314;1964316;1964318;1964320;1964322;1964324;1964326;1964328;1964330;1964332;1964334;1964336;1964338;1964340;1964342;1964344;1964346;1964348;1964350;1964352;1964354;1964356;1964358;1964360;1964362;1964364;1964366;1964368;1964370;1964372;1964374;1964376;1964378;1964380;1964382;1964384;1964386;1964388;1964390;1964392;1964394;1964396;1964398;1964400;1964402;1964404;2108693;2126058;2130065;2213896;2213898;2213900;2213902;2213904;2213906;2213908;2213910;2213912;2213914;2213916;2213918;2213920;2213922;2213924;2213926;2213928;2213930;2213932;2213934;2213936;2213938;2213940;2213942;2213944;2213946;2213948;2213950;2213952;2213954;2213956;2213958;2213960;2213962;2213964;2213966;2213968;2213970;2213972;2213974;2213976;2213978;5022578 A005A48;APEG1_9084;D1S1423;D2S1595E;ECD00467;ECD00591;ECD00742;ECD01221;ECD01685;ECD02054;ECD02212;ECD02510;ECD02511;ECD02643;ECD02778;ECD02968;ECD03226;ECD03710;ECD03976;ECD04037;ECD04239;ECD04674;ECD04712;ECD04810;ECD04977;ECD05962;ECD06641;ECD06960;ECD07252;ECD07909;ECD07910;ECD07955;ECD08041;ECD08116;ECD08150;ECD09125;ECD09646;ECD10262;ECD10293;ECD10556;ECD11590;ECD12401;ECD12402;ECD12433;ECD13049;ECD13443;ECD13444;ECD13688;ECD13929;ECD13968;ECD14132;ECD14714;ECD14753;ECD14839;ECD14937;ECD15009;ECD15548;ECD15549;ECD15596;ECD15645;ECD16066;ECD16123;ECD16884;ECD17304;ECD19200;ECD19297;ECD19831;ECD20163;ECD20290;ECD20903;ECD22423;G20234;REN52815;REN52816;REN52817;REN52818;REN52819;REN52820;REN52821;REN52822;REN52823;REN52824;REN52825;REN52826;REN52827;REN52828;REN52829;REN52830;REN52831;REN52832;REN52833;REN52834;REN52835;REN52836;REN52837;REN52838;REN52839;REN52840;REN52841;REN52842;REN52843;REN52844;REN52845;REN52846;REN52847;REN52848;REN52849;REN52850;REN52851;REN52852;REN52853;REN52854;REN52855;REN52856;REN52857;REN52858;REN52859;REN52860;REN52861;REN52862;REN52863;REN52864;REN52865;REN52866;REN52867;REN52868;REN52869;REN52870;REN52871;REN52872;REN52873;REN52874;REN52875;REN52876;REN52877;REN52878;REN52879;REN52880;REN52881;REN52882;REN52883;REN52884;REN52885;REN52886;REN52887;REN52888;REN52889;REN52890;REN52891;REN52892;REN52893;REN52894;REN52895;REN52896;REN52897;REN52898;REN52899;REN52900;REN52901;REN52902;REN52903;REN52904;REN52905;REN52906;REN52907;REN52908;REN52909;REN52910;REN52911;REN52912;REN52913;REN52914;REN52915;REN52916;REN52917;REN52918;REN52919;REN52920;REN52921;REN52922;REN52923;REN52924;REN52925;REN52926;REN52927;REN52928;REN52929;REN52930;REN52931;REN52932;REN52933;REN52934;REN52935;REN52936;REN52937;REN52938;REN52939;REN52940;REN52941;REN52942;REN52943;REN52944;REN52945;REN52946;REN52947;REN52948;REN52949;REN52950;REN52951;REN52952;REN52953;REN52954;REN52955;REN52956;REN52957;REN52958;REN52959;REN52960;REN52961;REN52962;REN52963;REN52964;REN52965;REN52966;REN52967;REN52968;REN52969;REN52970;REN52971;REN52972;REN52973;REN52974;REN52975;REN52976;REN52977;REN52978;REN52979;REN52980;REN52981;REN52982;REN52983;REN52984;REN52985;REN52986;REN52987;REN52988;REN52989;REN52990;REN52991;REN52992;REN52993;REN52994;REN52995;REN52996;REN52997;REN52998;REN52999;REN53000;REN53001;REN53002;REN53003;REN53004;REN53005;REN53006;REN53007;REN53008;REN53009;REN53010;REN53011;REN53012;REN53013;REN53014;REN53015;REN53016;REN53017;REN53018;REN53019;REN53020;REN53021;REN53022;REN53023;REN53024;REN53025;REN53026;REN53027;REN53028;REN53029;REN53030;REN53031;REN53032;REN53033;REN53034;REN53035;REN53036;REN53037;REN53038;REN53039;REN53040;REN53041;REN53042;REN53043;REN53044;REN53045;REN53046;REN53047;REN53048;REN53049;REN53050;REN53051;REN53052;REN53053;REN53054;REN53055;REN53056;REN53057;REN53058;REN53059;REN53060;REN53061;REN53062;REN53063;REN53064;REN53065;REN53066;REN53067;REN53068;REN53069;REN53070;REN53071;REN53072;REN53073;REN53074;REN53075;REN53076;SGC30668;STS-R40961;STS-U57099;stSG632986;stSG632988;stSG632989;stSG632990;stSG632991;stSG632992;stSG632995;stSG632996;stSG632997;stSG633000;stSG633001;stSG633002;stSG633003;stSG633004;stSG633005;stSG633006;stSG633007;stSG633008;stSG633009;stSG633010;stSG633011;stSG633012;stSG633013;stSG633014;stSG633015;stSG633016;stSG633017;stSG633018;stSG633019;stSG633020;stSG633023;stSG633024;stSG633025;stSG633026;stSG633028;stSG633030;stSG633031;stSG633032;stSG633033;stSG633034;stSG633035;stSG633036 APEG-1;APEG1;BPEG;CNM5;KIAA1297;MGC12676 OTTHUMP00000064868;OTTHUMP00000196351;OTTHUMP00000196352;OTTHUMP00000196353;SPEGalpha;SPEGbeta;aortic preferentially expressed gene 1;aortic preferentially expressed protein 1;nuclear protein, marker for differentiated aortic smooth muscle and down-regulated with vascular injury;striated muscle preferentially expressed protein kinase APPROVED protein-coding ENSG00000072195 HGNC:16901 10653 615950;615959 VALIDATED 1314206 SPG20 spastic paraplegia 20 (Troyer syndrome) This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008] 13 13 13 q13.3 17942963 18011514 - 36875775 36944317 - 36301638 36370180 - 6480464;7240710;8699517;8554872 10463356;12134148;12477932;12676568;14702039;15057823;15188498;15231748;15489334;16036216;16055720;16196087;16344560;16945107;17332501;17420921;18413476;18781797;19307600;19471022;19580544;19620182;19765186;20301556;20301682;20504295;20719964;20972266;21139048;21499309;21559443;21832049;21890473;21906983;21963094;21987572;22053931;22118674;22505724;23000965;23372428;23439121;23890011;24381142;24550385;24816145;25015289;6022528;8889549;9628581 23111 Q8N0X7 AA137195;AB011182;ABBA01021358;ABBA01021359;ABBA01021360;AK001949;AK002207;AK057764;AK291724;AK302119;AL139377;AMYH02027865;AY038359;AY038934;AY123329;AY123331;AY123332;AY123333;AY123334;AY123335;AY123336;AY123337;BC026284;BC047083;BQ719410;BU622545;BX648004;CH471075;CQ859806;DA347686;DA507821;DA710623;DB282617;KF455764;NG_011559;NM_001142294;NM_001142295;NM_001142296;NM_015087;XM_005266313;XM_005266314;XM_005266315;XM_005266316;XM_005266317 AAH47083;AAK71883;AAK72374;AAM76671;AAM76672;BAA25536;BAF84413;BAG50995;BAG51030;BAG63497;CAH25953;EAX08558;EAX08559;EAX08560;EAX08561;EAX08562;EAX08563;NP_001135766;NP_001135767;NP_001135768;NP_055902;Q8N0X7;XP_005266370;XP_005266371;XP_005266372;XP_005266373;XP_005266374 Hs.440414 1654123;1655274;1709742;2122485;2159352;2171027;2174243;2178682;5093310 A009L15;D13S1677;G32643;RH44628;RH45833;SGC35225;SHGC-53419;SHGC-84682;STS-AA020953 KIAA0610;TAHCCP1 OTTHUMP00000018254;spartin;spastic paraplegia 20 protein;trans-activated by hepatitis C virus core protein 1 APPROVED protein-coding ENSG00000133104 HGNC:18514 06170 275900;607111 REVIEWED 1349141 SPG27 spastic paraplegia 27 (autosomal recessive) ASSOCIATED WITH Spastic Paraplegia 27, Autosomal Recessive (inferred) 7240710 414886 HGNC:26071 609041 1346296 SPG5B spastic paraplegia 5B (autosomal recessive) ASSOCIATED WITH Spastic paraplegia type 5B, recessive (inferred) 7240710 6685 HGNC:11235 600146 1343917 SPG5A spastic paraplegia 5A (autosomal recessive) ASSOCIATED WITH Bile Acid Synthesis Defect, Congenital, 3 (inferred); Spastic paraplegia type 5A, recessive (inferred) 7240710 6684 HGNC:11234 270800;613812 1354358 SPG3B spastic paraplegia 3B 7825576 6682 HGNC:11232 1351182 SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] 15 15 15 q21-q22 42133429 42160447 - 65255363 65282251 - 64963021 64989946 - 1580863;1556574;6480464;7240710;8554872;8699517 14564668 11113139;12477932;14702039;15342556;15489334;16189514;17207965;18029348;19184135;20301682;20368287;21139048;21205478;21906983;22505724;22939629;23000965;6024251;8125298 51324 H0YKB0;H0YKM6;H0YLD7;H0YLT5;H0YLW1;H0YMB7;H0YML6;H3BRR0;Q9NZD8 AA179262;ABBA01038864;ABBA01038865;AC069368;AC103691;AF208861;AF212231;AI161152;AK123725;AK172849;AK225527;AK301362;AK312943;AMYH02030617;BC000244;BI258560;BI259651;BI552731;BI554234;BI771887;BP268459;BP268875;BX446863;CH471082;DA680695;DB477175;NG_008992;NM_001127889;NM_001127890;NM_016630;XM_005254436;XM_005254437;XM_006720564 AAF64275;AAH00244;AAK14917;ADQ31856;BAD18813;BAG62906;EAW77704;EAW77705;NP_001121361;NP_001121362;NP_057714;Q9NZD8;XP_005254493;XP_005254494;XP_006720627 Hs.242458 2142058;2162261;2181095;5015619;5015961;5037552 D11S3114;D15S1477;D8S2279;RH46473;RH78128;WI-20800 ACP33;BM-019;GL010;MAST OTTHUMP00000164130;acid cluster protein 33;maspardin;spastic paraplegia 21 autosomal recessive Mast syndrome protein;spastic paraplegia 21 protein APPROVED protein-coding ENSG00000090487 HGNC:20373 10492 248900;608181 REVIEWED 1352958 SPG8 spastic paraplegia 8 (autosomal dominant) ASSOCIATED WITH 3C syndrome (inferred); Spastic paraplegia 8, autosomal dominant (inferred) 7240710 9973294 9195 HGNC:11238 220210;603563 1349562 SPG9 spastic paraplegia 9 (autosomal dominant) ASSOCIATED WITH Spastic paraplegia 9, autosomal dominant (inferred) 7240710 9973297 9193 HGNC:11239 601162 1603228 SPHAR S-phase response (cyclin related) INVOLVED IN DNA replication (inferred); INTERACTS WITH amiodarone; benzo[a]pyrene; copper(2+) sulfate 1 1 1 q42.13 202708447 202709569 + 229440129 229441251 + 229304382 229305504 + 6480464 12477932;16710414;7799938 10638 Q15513 ABBA01009819;AI400109;AL117350;AMYH02002866;BC070287;BC107681;DQ120096;NM_006542;X82554 AAH70287;AAZ15373;CAA57901;NP_006533;Q15513 Hs.296169 1767246;1796636;1849001;1850197;1850199;1856241;2106633;2134845 A003A03;A005L42;D1S2524;G20320;RAB4A_1449;RH70076;SHGC-12949;SPHAR__5294 MGC88280;RP4-803J11.4 OTTHUMP00000064907;S-phase response (cyclin-related);S-phase response protein protein-coding HGNC:16957 11597 VALIDATED 1342736 SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014] 16 16 16 q24.3 74638312 74687680 + 89574802 89624174 + 89508394 89557766 + 1580863;6480464;7240710;8554872;8699517 10480368;11549317;12477932;14506940;14623864;14702039;15489334;1560826;16169070;16189514;16344560;16357941;16534102;17420921;17646629;18200586;18563470;18799786;18854154;19289403;19748354;19841671;20108356;20186691;20301286;20301682;20579626;20877624;21900206;21988832;22266886;22554690;22563492;22571692;22939629;22964162;23065789;23269439;23857099;24250222;24727571;7993411;8098008;8429914;9405655;9634528;9635427 6687 H3BMP1;H3BNE4;H3BTR8;H3BTY6;H3BUN3;J3KRF6;Q9UQ90 ABBA01014145;ABBA01014146;ABBA01014147;AC092123;AF034795;AF080525;AF090912;AK094627;AMYH02032669;AMYH02032670;AMYH02032671;AW250773;BC007692;BC015411;BC035929;BC036104;BC052587;BI827568;CA447374;CH471184;D14075;DA770435;DB482451;HY006239;NG_008082;NM_003119;NM_199367;S54769;X65784;XM_005256321;XM_006721264;XM_006721265;XM_006721266;Y16610;Z35498 AAB25303;AAC02429;AAD28099;AAF24033;AAH35929;AAH36104;ACE87780;ACT64446;BAA03160;BAG52898;CAA46667;CAA76314;EAW66726;EAW66727;EAW66728;EAW66729;NP_003110;NP_955399;Q9UQ90;XP_005256378;XP_006721327;XP_006721328;XP_006721329 Hs.185597 1678997;1736550;1765503;1793670;2154672 D16S2548E;PMC25060P1;RH65258;SHGC-148983;SHGC-61034 CAR;CMAR;FLJ37308;MGC126331;MGC126332;PGN;SPG5C OTTHUMP00000175348;OTTHUMP00000175349;cell adhesion regulator;cell matrix adhesion regulator;paraplegin;paraplegin, isoform 1;spastic paraplegia 7 protein;spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive) APPROVED protein-coding ENSG00000197912 HGNC:11237 04149 602783;607259 REVIEWED 1604287 SPHKAP SPHK1 interactor, AKAP domain containing ENCODES a protein that exhibits protein kinase A binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH fonofos; parathion; terbufos 2 2 2 q36 222614003 222822314 - 228844670 229046836 - 227979954 228181962 - 6480464;8554872 11214970;12080051;12477932;14702039;15485866;16324299;17164439;17325258;18055454;20379614;20394097;22084075;22479372;23568457 80309 Q2M3C7 AB051465;ABBA01050165;AC096557;AC109825;AK090876;AK095042;AK127071;AMYH02005928;AMYH02005929;AMYH02005930;AMYH02005931;BC104954;BC104956;BC143408;CR749297;CR749494;NM_001142644;NM_030623;XM_005246867;XM_005246868;XM_005246870;XM_006712777;XM_006712778 AAI04955;AAI04957;ADR83443;BAB21769;BAG52242;CAH18152;CAH18317;NP_001136116;NP_085126;Q2M3C7;XP_005246924;XP_005246925;XP_005246927;XP_006712840;XP_006712841 Hs.436306 1855509;2178648 RH11952;WI-13872 DKFZp781H143;DKFZp781J171;KIAA1678;MGC132614;MGC132616;SKIP A-kinase anchor protein SPHKAP;OTTHUMP00000204164;OTTHUMP00000204165;SPHK1 (sphingosine kinase type 1) interacting protein;SPHK1-interactor and AKAP domain-containing protein;sphingosine kinase type 1-interacting protein protein-coding ENSG00000153820 HGNC:30619 18052 611646 VALIDATED 1317131 SPHK2 sphingosine kinase 2 This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] 19 19 19 q13.2 45987413 45998527 + 49122548 49133974 + 48619291 48630407 + 1580863;6480464;6484113;6907045 10751414;11230166;11777919;12391145;12477932;14596938;14702039;15489334;15951439;16103110;16316995;16344560;16888242;17311928;17635916;17895250;17897319;18178871;18263879;19168031;19240026;19490468;19729656;20197547;20237496;21307639;21495716;21620961;21706498;21707492;21926972;23128233;23314175;23359503;23918304;24140934;24163370;24686171;24709100 56848 B3KV83;E7ET12;E9PCV4;M0QXX5;M0QZP3;M0R0E9;M0R344;Q9NRA0 AB100373;ABBA01032980;ABBA01032981;AC022154;AF245447;AK000599;AK074601;AK122735;AK125560;AK297787;AK300541;AL136701;AMYH02036305;BC006161;BC010671;BI224962;CH471177;DA926908;DB053266;DB367710;EF107108;HC039411;HH961880;NG_029867;NM_001204158;NM_001204159;NM_001204160;NM_001243876;NM_020126;XM_006723290;XM_006723291;XM_006723292;XM_006723293;XM_006723294 AAF74124;AAH06161;AAH10671;ABK81123;ABM87789;ABW03921;BAA91280;BAC11085;BAC55583;BAG53695;BAG62249;BAH12667;CAB66636;CBH26133;CBX51413;EAW52365;EAW52366;EAW52367;EAW52368;EAW52369;EAW52370;EAW52371;NP_001191087;NP_001191088;NP_001191089;NP_001230805;NP_064511;Q9NRA0;XP_006723353;XP_006723354;XP_006723355;XP_006723356;XP_006723357 Hs.528006 1688444;2139059;2158876;5015961 D15S1477;RH47213;RH75877;SHGC-36947 SK 2;SK-2;SPK 2;SPK-2 sphingosine kinase type 2;sphingosine kinase type 2 isoform APPROVED protein-coding ENSG00000063176 HGNC:18859 06157 607092 REVIEWED 1347644 SPIB Spi-B transcription factor (Spi-1/PU.1 related) The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 19 19 19 q13.3-q13.4 47972441 47982496 + 50922195 50934310 + 50418938 50431053 + 1580863;6480464 10196196;10364157;10618498;11841448;11864910;12393575;12477932;12748276;1406622;15489334;15583020;16263717;16317090;16344560;18029348;18552212;18792017;19416867;20639880;20826618;21399635;21988832;22071512;22257840;22510878;22698399;23165482;23439650;8125298;8632909;8670269 6689 M0QXA8;M0R037;M0R2J9;M0R3H8;Q01892 ABBA01068323;AC020909;AK225225;AK225720;AK292644;AK300639;AMYH02036352;BC007921;BQ064401;CH471135;DA957263;GD140573;NM_001243998;NM_001243999;NM_001244000;NM_003121;X66079;X96998 AAH07921;ABZ92185;BAF85333;BAG62328;CAA46878;CAA65726;EAW71858;EAW71859;EAW71860;EAW71861;EAW71862;EAW71863;EAW71864;NP_001230927;NP_001230928;NP_001230929;NP_003112;Q01892 Hs.437905 1664212;2218054;5015961;5016478;5022463;5022578;5022651;5024756;5037552;5124811 D11S2921;D15S1477;D1S1423;D3S1673;D8S2279;GDB:434012;RH47504;RH80030;RH93516;SPIB_3466 SPI-B transcription factor Spi-B APPROVED protein-coding ENSG00000269404 HGNC:11242 606802 REVIEWED 1344411 SPI1 Spi-1 proto-oncogene This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 47515686 47541505 - 47376409 47400127 - 47354858 47378576 - 1580863;6480464;6484113;6907045;9586451;9586724;8695944;9586725;8554872;9586723 10713349;16272341;21447000;24282365;24825349 10022840;10050886;10196196;10207087;10364157;10411939;10734131;10867017;11076863;11133986;11181995;11483597;11593411;11926990;11929801;12036891;12091339;12130514;12130529;12202480;12372320;12393465;12477932;12778491;12832449;12833137;12896880;14623259;14647463;14706103;15242870;15304486;15339679;15342556;15598817;15625130;15632149;15796964;16051608;16083856;16149049;16223775;16263717;16298389;16320347;16331260;16352814;16642264;16698794;16702405;16861236;1693183;16973891;16983342;17197705;17200120;17218319;17386941;17410194;17545613;17562868;17621263;17623651;17671233;17694175;18056638;18250304;18288635;18308386;18316480;18635311;18657865;18676813;18692240;19076642;19111020;19118563;19158090;19208846;19281794;19382896;19428102;19502584;19542915;19564417;19632992;19747912;19749795;19825991;19828640;19890096;19966852;20159610;20471086;20660370;20947507;21094529;21176776;21216962;21239694;21360505;21402070;21402921;21421043;21474105;21504384;21518930;21725055;21732487;21789226;2180582;21897363;21988832;22012064;22075620;22083997;22096565;22145969;22231443;22446486;22498738;22569057;22674382;22780968;22824976;23118933;23212521;23252456;2338340;23395001;23483680;23501100;23534406;23770850;24038216;24086757;24379003;24445817;24504023;24639354;24908389;7478579;7594592;7730336;8219191;8434021;8626664;8632909;9094628;9211934;9376596;9478924;9593745;9600921;9668064;9681824;9918847 6688 F5GZ94;F5H3K6;P17947 ABBA01060716;ABBA01060717;ABBA01060718;ABBA01060719;ABBA01060720;AC090559;AC090582;AK310065;AMYH02024728;AMYH02024729;BI519776;BI909430;BM561863;BP271276;CD368431;CH471064;JC009148;NM_001080547;NM_003120;U34046;X52056 AAC50247;AAI11380;CAA36281;CDL93508;EAW67924;EAW67925;EAW67926;NP_001074016;NP_003111;P17947 Hs.502511 1658303;1704988;1742543 D11S3994;GDB:197862;SHGC-78002 OF;PU.1;SFPI1;SPI-1;SPI-A 31 kDa transforming protein;31 kDa-transforming protein;OTTHUMP00000196462;OTTHUMP00000238031;OTTHUMP00000238033;hematopoietic transcription factor PU.1;spleen focus forming virus (SFFV) proviral integration oncogene spi1;transcription factor PU.1 APPROVED protein-coding ENSG00000066336 HGNC:11241 01305 165170 REVIEWED 1606953 SPICE1 spindle and centriole associated protein 1 INVOLVED IN metaphase plate congression; regulation of centriole replication; spindle assembly involved in mitosis; ASSOCIATED WITH Melanoma (inferred); FOUND IN centriole; centrosome; spindle; INTERACTS WITH arsenous acid; diarsenic trioxide; ethyl methanesulfonate 3 3 3 q13.2 111570154 111642619 - 113161565 113234034 - 113442718 113515187 - 6480464;8554872 12477932;15302935;15342556;15489334;17081983;18029348;20360068;20368287;20400511;20736305;21139048;21906983;23443559;23455924;23535732;23810536;24250222;24255178;8012384;8619474;9110174 152185 C9IZF0;C9J4W3;C9J5T2;H7C5N4;Q8N0Z3 ABBA01061652;ABBA01061653;AC112128;AK057966;AK126897;AK129575;AK296160;AL832148;AL832327;AMYH02007447;AMYH02007448;AY099107;BC019232;BC036951;BC038595;BP278430;CH471052;NM_144718;U79249;XM_006713515;XR_241469;Z61420 AAH19232;AAH36951;AAM34495;BAG54389;BAG58899;CAD91167;EAW79634;EAW79635;EAW79636;EAW79637;NP_653319;Q8N0Z3;XP_006713578 Hs.477144 1646576;1675740;1698578;2147737;5015861;5020948;5022578;5022651;5092658;5109281;7185938 A005N03;D10S16;D11S2921;D1S1423;D1S1425;G32244;G35510;RH102841;RH93646;SHGC-77205 CCDC52;FLJ26064;FLJ44949 OTTHUMP00000214562;SPICE;coiled-coil domain containing 52;coiled-coil domain-containing protein 52;spindle and centriole protein;spindle and centriole-associated protein 1 APPROVED protein-coding ENSG00000163611 HGNC:25083 11242 613447 VALIDATED 1603315 SPIDR scaffolding protein involved in DNA repair INVOLVED IN cellular response to camptothecin; cellular response to DNA damage stimulus; cellular response to hydroxyurea; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nuclear chromosome; INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; benzo[a]pyrene 8 8 8 q11.21 44177794 44633625 + 48173489 48648563 + 47260878 47736001 + 6480464;8554872 12477932;14702039;15489334;15502879;15858003;22589738;23509288;23603433;23754376;8590280;8889548 23514 B3KP42;B4DMX9;B4DWT8;E5RFY2;E5RGV8;E5RGX8;E5RHG3;E5RIB8;E5RIU7;E5RJJ2;E7EVI9;H0YBC9;Q14159 ABBA01041629;ABBA01041630;ABBA01041631;ABBA01041632;ABBA01041633;ABBA01041634;ABBA01041635;ABBA01041636;ABBA01041637;AC023991;AC024451;AC024649;AC104995;AC142471;AC145060;AC225614;AC231773;AC233269;AK026929;AK055680;AK092336;AK122820;AK293809;AK293972;AK294248;AK294275;AK297681;AK301677;AK303140;AK303579;AK309842;AK310584;AMYH02017934;AMYH02017935;AMYH02017936;AMYH02017937;AMYH02017938;AMYH02017939;AMYH02017940;AMYH02017941;AMYH02017942;AMYH02017943;BC015561;BC031627;BM981420;D63480;DR000775;HY012281;KF458749;NM_001080394;NM_001282916;NM_001282919;NR_104581;XM_005251189;XM_005251191;XM_005251193;XM_005251195;XM_005251196;XM_005251197;XM_005251198;XM_005251199;XM_005251201;XM_006716443;XM_006716444;XM_006716445 AAH15561;AAI56772;BAA09767;BAG51554;BAG57216;BAG57344;BAG57544;BAG57563;BAG60041;BAG63150;BAG64244;BAG64598;NP_001073863;NP_001269845;NP_001269848;Q14159;XP_005251246;XP_005251248;XP_005251250;XP_005251252;XP_005251253;XP_005251254;XP_005251255;XP_005251256;XP_005251258;XP_006716506;XP_006716507;XP_006716508 Hs.381058 1652048;1663839;1678423;1680018;1688008;1690744;1694676;1698276;1709150;1721557;1731929;1750735;1751479;1766377;2117338;2117340;2139682;2169627;2175847;2185002;5093374 A001T40;A009N15;AFMB290WB9;D8S359;G19638;G32171;G32681;G43519;G59783;RH102674;RH36389;RH40570;RH68757;RH77701;RH78174;RH79727;RH80523;SHGC-105289;SHGC-112129;SHGC-149722;SHGC-85736 FLJ35017;KIAA0146 DNA repair-scaffolding protein;OTTHUMP00000226081;OTTHUMP00000226084;hypothetical protein LOC23514;uncharacterized protein KIAA0146 APPROVED protein-coding ENSG00000164808 HGNC:28971 615384 VALIDATED 1348781 SPIN2A spindlin family, member 2A This gene encodes one of three members of the DXF34 gene family, located in a 100-kb region of chromosome Xp11.21. [provided by RefSeq, Nov 2009] X X X p11.1 61016469 61018444 - 57162036 57164093 - 57135642 57137625 - 1580863;6480464 12107411;12145692;12477932;15489334;15772651;17207965;19377476;21139048;21890473;22944692;23000965;23084401;23891004;9271673 54466 Q99865 ABBA01069351;AL022157;AMYH02039532;BC071694;CH471154;NG_016252;NM_019003;XM_005262016;XM_005262017;XM_005262018;XM_005262019;XM_006724588;Y09858 AAH71694;ADQ31974;CAA70988;EAW93242;EAW93243;NP_061876;Q99865;XP_005262073;XP_005262074;XP_005262075;XP_005262076;XP_006724651 Hs.460725 2157694 RH70968 DXF34;MGC88670;RP3-323P24.2;SPIN-2;SPIN-2A;SPIN2;dJ323P24.1 OTTHUMP00000024302;OTTHUMP00000024303;centromeric spin2 copy;spindlin homolog 2;spindlin-2A;spindlin-like protein 2;spindlin-like protein 2A APPROVED protein-coding ENSG00000147059 HGNC:20694 06725 300621 REVIEWED 1603797 SPIN2B spindlin family, member 2B INVOLVED IN apoptotic process (inferred); gamete generation (inferred); regulation of cell cycle (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 1-naphthyl isothiocyanate (ortholog); 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) X X X p11.1 61000501 61002365 - 57146115 57147989 - 57119682 57121556 - 6480464 12145692;12477932;15489334;15772651;17207965;20351274;21890473;23000965;25027693;7566098 474343 Q5JZB7;Q5JZB8;Q9BPZ2 AA319190;ABBA01069351;AF356353;AL022157;AMYH02039532;BC000044;BC071974;BQ221120;BX953266;CH471154;NM_001006681;NM_001006682;NM_001006683;NM_001282461;NM_001282462;XM_005262008;XM_005262009;XM_005262010;XM_005262011 AAH00044;AAH71974;AAK37566;ADQ31693;EAW93238;EAW93239;EAW93240;NP_001006682;NP_001006683;NP_001006684;NP_001269390;NP_001269391;Q9BPZ2;XP_005262065;XP_005262066;XP_005262067;XP_005262068 Hs.460717;Hs.745094 1747875 G66846 SPIN-2;SPIN-2B;SPIN2_duplicate;dJ323P24.2 OTTHUMP00000023416;OTTHUMP00000023417;OTTHUMP00000023418;spindlin family, member 2 duplicate;spindlin-2B;spindlin-like protein 2B;telomeric SPIN2 copy protein-coding ENSG00000186787 HGNC:33147 18662 300517 VALIDATED 1346404 SPHK1 sphingosine kinase 1 The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 17 17 17 q25.2 70973067 70976318 + 74372742 74383941 + 76383163 76387860 + 2311380;2311379;2311390;6480464;6484113;6907045 16319132;17265031;17316399 10751414;10802064;10863092;10947957;11777919;11915350;12077123;12080051;12124383;12393916;12441135;12444147;12477932;12847068;14532121;14575709;14702039;14742298;14988393;15052627;15191888;15193146;15265705;15302883;15342556;15585953;15623571;15632208;15693752;15710602;15749892;15855330;16038795;16194537;16243846;16316995;16507765;16516161;16529909;16571380;16623665;16888242;17064696;17114809;17124500;17388800;17482291;17519232;17599053;17641298;17822721;18058224;18178871;18192241;18199826;18261991;18263879;18362204;18401414;18426913;18644866;18718048;18775504;18824518;18849324;18852266;18922940;18980995;19017993;19074142;19116345;19162217;19238330;19240026;19633297;19657322;19706837;19782042;19815712;19830907;19854831;19914200;19956567;20053797;20104488;20237496;20386061;20404323;20519401;20520628;20606403;20634980;20661259;20838377;20846391;20889557;20926375;21075134;21075214;21139048;21209394;21304987;21392092;21418911;21464128;21575515;21625639;21672077;21696364;21756066;21769916;21936950;21940753;21988832;22016563;22155656;22227192;22315056;22322056;22322303;22331716;22422617;22450659;22460268;22684547;22733311;22781898;22833671;22961081;23166225;23232649;23314175;23359503;23426175;23462226;23466305;23576579;23602659;23651497;23658376;23839903;23861887;23893239;23928990;23939980;23955546;24092575;24137500;24464131;24473437;24503067;7698749;8125298;8889549;9726979 8877 K7EJ32;K7EMA4;Q53ZR5;Q9NYA1 ABBA01028746;AC090699;AF200328;AF238083;AF266756;AJ245504;AK022402;AK023393;AK095578;AK122781;AK225250;AK225258;AK292294;AK292614;AMYH02034012;AX879091;AX880488;AY278525;BC004112;BC008040;BC009419;BC014439;BC030553;BP304783;CH471099;DC384776;NM_001142601;NM_001142602;NM_021972;NM_182965;XM_005257766 AAF73423;AAF73470;AAG01980;AAH04112;AAH08040;AAH09419;AAH14439;AAH30553;AAP35060;BAB14028;BAB14558;BAF84983;BAF85303;BAG53725;CAB92131;CAE90363;CAE90969;EAW89388;EAW89389;EAW89390;EAW89391;EAW89392;EAW89393;EAW89394;NP_001136073;NP_001136074;NP_068807;NP_892010;Q9NYA1;XP_005257823 Hs.68061 2173287 RH47748 SK 1;SPHK;SPK 1 APPROVED protein-coding ENSG00000176170 HGNC:11240 04768 603730 VALIDATED 1602297 SPIN4 spindlin family, member 4 INVOLVED IN gamete generation (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2-methylcholine X X X q11.1 62913949 62918060 - 62567107 62571218 - 63347228 63351339 - 6480464 11181995;12477932;14702039;19322201;21139048;21890473;21906983 139886 Q56A73;X6R8Y7 ABBA01066778;AC234780;AK021705;AK126931;AL158203;AL833314;AMYH02039590;BC035088;BC043412;BC112360;CH471132;NM_001012968 AAH43412;AAI12361;BAG54402;EAX05423;NP_001012986;Q56A73 Hs.612782 1689402;5493451 RH93265;UniSTS:486476 FLJ44984;MGC133224 OTTHUMP00000023423;spindlin-4 protein-coding ENSG00000186767 HGNC:27040 12556 VALIDATED 1604513 SPIN3 spindlin family, member 3 INVOLVED IN gamete generation (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; quercetin X X X p11.21 60856938 60876122 - 57002803 57021988 - 56976370 56995612 - 6480464 12477932;14702039;15489334;15772651;16344560;17620599;18029348;19322201;22952844 169981 Q5JUX0 ABBA01069369;ABBA01069370;ABBA01069371;AJ271379;AK123122;AK127485;AK304047;AL139397;AL832091;AMYH02039530;BC016437;BC018073;BC032490;BC146899;BC146906;BX403408;CH471154;DB151976;NM_001010862;NR_027139;XM_006724577;XM_006724578 AAI46900;AAI46907;BAH14098;EAW93237;NP_001010862;Q5JUX0;XP_006724640;XP_006724641 Hs.522672 1650191 WI-21136 FLJ41127;FLJ54952;MGC40395;SPIN-3;bA445O16.1 OTTHUMP00000023415;bA445O16.1 (DXF34);spindlin-3;spindlin-like protein 3 protein-coding HGNC:27272 18097 VALIDATED 6481378 SPIN4-AS1 SPIN4 antisense RNA 1 q11.1 11329013 100874033 AL158203;BG189257;HG512553 Hs.679661 APPROVED ncrna HGNC:41177 1314796 SPIC Spi-C transcription factor (Spi-1/PU.1 related) ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN blastocyst development (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; formaldehyde; methyl methanesulfonate 12 12 12 q23.2 101535714 101545426 + 101869133 101880954 + 101474535 101487176 + 1580863;6480464;8554872 12459275;12477932;15489334;16647686;21832049 121599 Q8N5J4 ABBA01053240;ABBA01053241;AC090671;AF518404;AMYH02027071;BC032317;CH471054;JA885110;NM_152323;XM_005268646;XM_005268647;XM_006719238;XM_006719239 AAH32317;AAN84476;ABZ92378;CCQ77680;EAW97662;NP_689536;Q8N5J4;XP_005268703;XP_005268704;XP_006719301;XP_006719302 Hs.577097 MGC40611;SPI-C OTTHUMP00000243374;transcription factor Spi-C protein-coding ENSG00000166211 HGNC:29549 15438 612568 PROVISIONAL 1601681 SPINK14 serine peptidase inhibitor, Kazal type 14 (putative) ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); FOUND IN extracellular region (inferred) 5 5 5 q32 143630039 143634356 + 147548109 147555182 + 148168546 148175619 + 15060002 408187 H3BT63;M1EY23;Q6IE38 ABBA01026319;AC116334;AMYH02012432;BN000355;JF509943;NM_001001325;XM_005268449 AAI41496;AAI48776;AFB83536;CAE51407;NP_001001325;Q6IE38;XP_005268506 Hs.553815 SPINK5L2 Kazal type serine protease inhibitor 5-like 2;OTTHUMP00000160148;putative serine protease inhibitor Kazal-type 5-like 2;serine protease inhibitor Kazal-type 14 APPROVED protein-coding ENSG00000196800 HGNC:33825 18098 VALIDATED 1314698 SPIN1 spindlin 1 ENCODES a protein that exhibits methylated histone binding; INVOLVED IN positive regulation of Wnt signaling pathway; rRNA transcription; PARTICIPATES IN histone modification pathway; FOUND IN nucleolus; nucleus; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 9 9 9 q22.1 61579528 61669853 + 91002584 91093623 + 88388382 88478708 + 1580863;6480464;9479148 24035451 11076863;11230166;11256614;12477932;14702039;15164053;15489334;15489336;16098913;16169070;16381901;16472086;17082182;17620599;18201843;18391951;18543248;19167051;19322201;20462248;20881960;21044367;21890473;21960006;22258766;22354994;22952844;23000965;23077255;23084401;23184937;23246001;23402259;23455924;23824909;24589551;24816145;25027693;9053325 10927 Q9Y657 ABBA01016517;ABBA01016518;AF087864;AF106682;AF317228;AJ420427;AK024590;AK027044;AK092017;AK289691;AK290009;AK315854;AL136719;AL353748;AMYH02021178;AMYH02021179;AMYH02021180;BC013571;BC114515;BC114565;BT007314;CH471089;CR533484;DB465491;NM_006717 AAD43035;AAG38112;AAG48367;AAI14516;AAI14566;AAP35978;ABM84462;ABM87799;BAF82380;BAF82698;BAF98745;BAG52466;CAB66653;CAG38515;CAL37656;CAL38623;EAW62753;EAW62754;EAW62755;NP_006708;Q9Y657 Hs.146804 1644928;1648520;1669561;1687337;1730349;1739371;1850185;2140913;2150505 D9S1653E;D9S190E;HSC0EH092;RH11968;RH36190;RH98753;SGC30455;SHGC-30777;STS-AA009936 SPIN OTTHUMP00000021608;ovarian cancer-related protein;spindlin;spindlin-1;spindlin1 protein-coding ENSG00000106723 HGNC:11243 18096 609936 VALIDATED 1349585 SPINK2 serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 4 4 4 q12 55182079 55193941 - 57676026 57688035 - 56809860 56821869 - 1580863;6480464 12477932;15120973;15489334;16751776;1704312;17333166;1801743;19422058;20736409;2226783;791787;8428671 6691 D6RC51;D6RI10;P20155 AA776754;AA973772;ABBA01003438;AC022483;AK312222;AMYH02009265;AV743457;AW592089;BC022514;BF589674;BI520020;BI561149;BI562269;BU853655;CH471057;CR542135;DB451710;DQ596286;FB659838;GU727622;HY020998;HY028205;HY043430;HY055610;M84967;M91438;NM_001271718;NM_001271719;NM_001271720;NM_001271721;NM_001271722;NM_021114;NR_073417;NR_073418;NR_073419;X57655;XM_006714050 AAB59431;AAH22514;ABM86459;ABW03650;ADU87624;BAG35155;CAB37834;CAG46932;CAS01774;EAX05512;EAX05513;EAX05514;EAX05515;NP_001258647;NP_001258648;NP_001258649;NP_001258650;NP_001258651;NP_066937;P20155;XP_006714113 Hs.98243 1298203;1685980;1772514;1773094;5014665 D4S1592;D4S3141;RH11111;SHGC-50821;SHGC4-1789 HUSI-II OTTHUMP00000158971;OTTHUMP00000218967;OTTHUMP00000218968;acrosin-trypsin inhibitor;epididymis tissue protein Li 172;serine protease inhibitor Kazal-type 2;serine protease inhibitor, Kazal type, 2 (acrosin-trypsin inhibitor) protein-coding ENSG00000128040 HGNC:11245 10422 605753 REVIEWED 1342974 SPINK4 serine peptidase inhibitor, Kazal type 4 ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); response to drug (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 5-fluorouracil; zinc atom; zinc(0) 9 9 9 p13.3 33170395 33178768 + 33240196 33248565 + 33240198 33248567 + 1580863;6480464 12477932;12678500;1400298;15164053;15489334;17333166;18029348 27290 O60575;Q5VZE7;V9HWG8 ABBA01065064;AF048700;AL161445;AMYH02019416;BC110068;CH471071;EU794680;NM_014471 AAC05124;AAI10069;ACJ13734;EAW58518;NP_055286;O60575 Hs.555934 HEL136;MGC133107;PEC-60;PEC60 OTTHUMP00000021194;OTTHUMP00000021195;epididymis luminal protein 136;gastrointestinal peptide;peptide PEC-60 homolog;serine protease inhibitor Kazal-type 4;serine protease inhibitor, Kazal type 4 protein-coding ENSG00000122711 HGNC:16646 11598 613929 PROVISIONAL 1350719 SPINK1 serine peptidase inhibitor, Kazal type 1 The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008] 5 5 5 q32 143286018 143293135 - 147204143 147218794 - 147824580 147839231 - 1599102;1580863;2300384;2300385;2300388;2300393;2300382;2300389;2300390;2300387;2300386;2300391;6480464;7240710;8554872;8699517 10508484;10835640;11176522;15269150;15963628;16327984;17306443;2258083;8674801;8988701;9891532 10691414;10982753;11355022;11866271;11938439;11950815;11950817;12011155;12014716;12120220;12120224;12187509;12360463;12360464;12452372;12477932;12529713;12649567;12822871;12825076;12875970;12939655;12973686;14507909;14526128;14595541;14675563;14688470;14722925;15082592;15238770;15329520;15367892;15489334;15528018;15749232;15749233;15753612;15764155;15782101;15810949;15910626;15980664;15987793;1613792;16187186;16497624;16764792;16823394;16954950;16958672;16981266;17003641;17072959;17163998;17238043;17333166;17446841;17489851;17525091;17568390;17613931;17681820;17981921;17990360;18076731;18182741;18317448;18336671;18347987;18414673;18428024;18538735;18580441;18617776;18680227;1870127;18706099;18852684;18953248;18978175;18986377;19077465;19096130;19147803;19287144;19372376;19384300;19404200;19433603;19465903;19502653;19565042;19578796;19593166;19654461;19657220;19696993;19844201;19845895;19864383;19888199;20108119;20442300;20502448;20543535;20551465;20625975;20676769;20849596;2093478;20977904;2110056;21323990;21368222;21375584;21415673;21610753;21656687;21739120;21792085;21864386;21952138;22041280;22042864;22094894;22228370;22307441;22313860;22343981;22363992;22379635;22427236;22508321;22526274;22699143;22751291;22944196;22955423;23017645;23251661;23348902;23459095;23527199;23751316;23843146;23951356;24075519;24134754;24204699;24254562;24624459;24654459;2961612;3501289;3877508;7142173;843082;8433367;9452083;9643675 6690 D6RIU5;P00995 ABBA01026323;AC011352;AF286028;AI990990;AMYH02012428;BC025790;BU074107;CB159576;CH471062;M11949;M20530;NG_008356;NM_003122;XM_005268501;Y00705 AAA36521;AAA36522;AAG00531;AAH25790;ABM84539;ABM87841;CAA68697;EAW61817;NP_003113;P00995;XP_005268558 Hs.407856 1846723 STS-M20530 PCTT;PSTI;Spink3;TATI;TCP OTTHUMP00000160145;OTTHUMP00000223881;pancreatic secretory trypsin inhibitor;serine protease inhibitor Kazal-type 1;serine protease inhibitor, Kazal type 1;tumor-associated trypsin inhibitor APPROVED protein-coding ENSG00000164266 HGNC:11244 01341 167790;167800;608189 REVIEWED 1351307 SPINK6 serine peptidase inhibitor, Kazal type 6 The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010] 5 5 5 q32 143661768 143674063 + 147582357 147594700 + 148202794 148215137 + 1303943 15060002 11329013;12477932;12975309;15340161;15489334;20667819;21439340;21832049;23303447;24352040 404203 D6RGX9;Q6UWN8 ABBA01026318;AC011346;AMYH02012432;AY358716;BC032003;BE122852;CH471062;GQ504704;GQ504705;NM_001195290;NM_205841 AAH32003;AAQ89078;ADM46526;ADM46527;EAW61813;EAW61814;NP_001182219;NP_995313;Q6UWN8 Hs.334274 BUSI2;MGC21394;UNQ844 OTTHUMP00000223886;OTTHUMP00000223887;acrosin inhibitor;kallikrein inhibitor;protease inhibitor H;serine protease inhibitor Kazal-type 6;serine protease inhibitor, Kazal type 6 APPROVED protein-coding ENSG00000178172 HGNC:29486 15439 615868 REVIEWED 1606769 SPINK7 serine peptidase inhibitor, Kazal type 7 (putative) ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 5 5 5 q32 143771350 143774842 + 147691990 147695482 + 148312427 148315919 + 6480464 12477932;12646258;12970870;12975309;14639608;15489334;17352218;17418617;17602171;17693286;18162463;18618216;18824154;19717562;19796867;21042721;22315007;22528291 84651 E5RFX6;P58062 ABBA01026318;AC091948;AF268198;AMYH02012434;AY359072;BC109385;BC110067;CH471062;NM_032566 AAI09386;AAI10068;AAK27795;AAQ89431;EAW61810;NP_115955;P58062 Hs.244569 ECG2;ECRG-2;ECRG2;MGC133105;MGC133106 OTTHUMP00000160149;esophagus cancer related gene 2;esophagus cancer-related gene 2 protein;esophagus cancer-related gene-2;serine protease inhibitor Kazal-type 7 protein-coding ENSG00000145879 HGNC:24643 16850 VALIDATED 1606051 SPINK8 serine peptidase inhibitor, Kazal type 8 (putative) ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH diethylstilbestrol (ortholog); diuron (ortholog); progesterone (ortholog) 3 3 3 p21.31 48298735 48320292 - 48348336 48369831 - 48306846 48328351 - 6480464 16930550;20379614 646424 P0C7L1 ABBA01024651;ABBA01024652;AC105267;AMYH02006715;AMYH02006716;NM_001080525;XM_006713299 NP_001073994;P0C7L1;XP_006713362 Hs.257687 OTTHUMP00000210747;serine protease inhibitor Kazal-type 8 protein-coding ENSG00000229453 HGNC:33160 PROVISIONAL 1603723 SPINK9 serine peptidase inhibitor, Kazal type 9 ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity; INVOLVED IN negative regulation of endopeptidase activity; FOUND IN extracellular region (inferred); INTERACTS WITH orphenadrine (ortholog) 5 5 5 q32 143794482 143798772 + 147715122 147719412 + 148335559 148339849 + 6480464 12477932;19190773;19194479;19502653;21899598;22505519;24441102 643394 D6RJC5;Q5DT21 ABBA01026318;AC091948;AMYH02012436;AY396740;BC137530;BC137531;NM_001040433 AAI37531;AAI37532;AAR91618;NP_001035523;Q5DT21 Hs.631798 LEKTI2 OTTHUMP00000223922;OTTHUMP00000223923;lymphoepithelial Kazal-type-related inhibitor 2;serine protease inhibitor Kazal type 9;serine protease inhibitor Kazal-type 9 protein-coding ENSG00000204909 HGNC:32951 613511 PROVISIONAL 2949691 SPINK13 serine peptidase inhibitor, Kazal type 13 (putative) ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of acrosome reaction (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; copper atom; copper(0) 5 5 5 q32 143727787 143745137 + 147648423 147665773 + 148268860 148286210 + 6480464;8554872 12477932;14702039;15060002;18390568;22505724 153218 Q1W4C9 ABBA01026318;AC011346;AK001520;AMYH02012434;BC128163;BC128164;CH471062;DQ438947;EF108324;EF426754;NM_001040129 AAI28164;AAI28165;ABD96086;ABO28598;ABR09863;EAW61812;NP_001035218;Q1W4C9 Hs.483771 1689326 RH92492 HBVDNAPTP1;LiESP6;MGC149260;SPINK5L3 HESPINTOR;OTTHUMP00000223889;hepatitis B virus DNA polymerase transactivated human serine protease inhibitor;hepatitis B virus DNA polymerase transactivated serine protease inhibitor;serine protease inhibitor Kazal-type 13;serine protease inhibitor Kazal-type 5-like 3 protein-coding ENSG00000214510 HGNC:27200 615205 PROVISIONAL 1353929 SPINT3 serine peptidase inhibitor, Kunitz type, 3 ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene 20 20 20 q12-q13.1 40849624 40852785 - 44141101 44144264 - 45512461 45515624 - 1580863;6480464 11549316;11780052;12601814;17589793;20171287;21988899 10816 P49223 ABBA01052660;AL031663;AMYH02037151;AY372172;BX088813;NM_006652;X77166 AAR17081;CAA54410;NP_006643;P49223 Hs.370724 1682497 RH75989 HKIB9 OTTHUMP00000031134;kunitz-type protease inhibitor 3;serine protease inhibitor Kunitz type 3;serine protease inhibitor, Kunitz type, 3 protein-coding ENSG00000101446 HGNC:11248 613941 VALIDATED 1603467 SPINT4 serine peptidase inhibitor, Kunitz type 4 ENCODES a protein that exhibits serine-type endopeptidase inhibitor activity (inferred); INVOLVED IN negative regulation of endopeptidase activity (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH potassium dichromate (ortholog) 20 20 20 q13.12 41059492 41062839 + 44350988 44354335 + 45722349 45725696 + 6480464 21536719;21988899 391253 Q6UDR6 ABBA01052665;AL109656;AMYH02037152;AY372173;AY372174;CH471077;NM_178455 AAR17082;AAR17083;EAW75818;NP_848550;Q6UDR6 Hs.677891 C20orf137;SPINT3;dJ601O1.1 OTTHUMP00000160650;kunitz-type protease inhibitor 4;serine protease inhibitor, Kunitz type 1;serine protease inhibitor, Kunitz type 4 protein-coding HGNC:16130 PROVISIONAL 1343963 SPINT5P serine peptidase inhibitor, Kunitz type 5, pseudogene 20 20 44378559 44378713 + 45749920 45750074 + 11181995;21988899 140863 ABBA01052665;AL050348;AMYH02037153;CH471077;NG_033275 EAW75819 C20orf168;dJ447F3.6 APPROVED pseudo HGNC:16161 INFERRED 1354236 SPIRE1 spire-type actin nucleation factor 1 Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008] 18 18 18 p11.21 12327387 12540805 - 12446511 12661456 - 12446512 12661489 - 6480464 10574461;11747823;12477932;14702039;15778465;16344560;17353931;18042452;19605360;20379614;21705804;22542470 56907 C9JYR7;J3KNG6;K7EMJ7;K7ENV1;K7EQR2;Q08AE8 AB032961;ABBA01074020;ABBA01074021;ABBA01074022;ABBA01074023;ABBA01074024;ABBA01074025;AJ277587;AK025433;AK090999;AK290180;AK301711;AL833817;AMYH02034332;AMYH02034333;AMYH02034334;AMYH02034335;AMYH02034336;AMYH02034337;AP001028;AP001029;AP005482;BC016825;BC115005;BC125206;BC125207;CH471113;DB056921;DB506330;DR001109;NM_001128626;NM_001128627;NM_020148;XM_005258121;XM_005258122;XM_006722333;XM_006722334 AAH16825;AAI15006;AAI25207;AAI25208;BAA86449;BAF82869;BAG63182;CAB96370;CAD38680;EAX01544;EAX01545;EAX01546;NP_001122098;NP_001122099;NP_064533;Q08AE8;XP_005258178;XP_005258179;XP_006722396;XP_006722397 Hs.515283 1337122;1655776;1677206;1684379;1728519;1734554;1734574;2117068;2118161;2144246;2148920;7185374 D18S71;D18S895E;D18S913E;D18S935E;D18S996;G09552;G63697;RH8155;RH91174;SHGC-32292;SHGC-34655 MGC150621;MGC150622;Spir-1 OTTHUMP00000204686;OTTHUMP00000204687;OTTHUMP00000204688;spire actin nucleation factor 1;spire family actin nucleation factor 1;spire homolog 1 APPROVED protein-coding ENSG00000134278 HGNC:30622 11600 609216 VALIDATED 1606832 SPINT1 serine peptidase inhibitor, Kunitz type 1 The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008] 15 15 15 q15.1 17904155 17917761 + 41136246 41149853 + 40844048 40857655 + 6480464 10219059;10373425;10544273;10824123;11013244;11201608;11290548;12477932;12815039;12975309;15231748;15340161;15489334;15713485;15994391;16044910;16103126;16273651;16341674;16502470;16713569;16820046;17389401;17786295;17981575;18029348;18713750;18769935;18813126;19148468;19222607;19223533;19535514;19578736;20213201;20696767;20715109;20716618;20977675;21123732;21166957;21795523;21898507;21906983;22023801;22031598;22118498;22589738;23393351;23409135;23443661;23979832;24147538;24659667;9045658;9743567 6692 H3BMB6;H3BNW5;H3BR01;H3BSM2;H3BTQ8;H3BVD9;O43278 AB000095;ABBA01038428;ABBA01038429;ABBA01038430;ABBA01038431;AC012476;AI684245;AK300195;AK303899;AK314825;AMYH02030255;AY296715;AY358969;BC004140;BC018702;BE871002;BM763214;BT007425;CH471125;NG_029239;NM_001032367;NM_003710;NM_181642;XM_006720657 AAH04140;AAH18702;AAP36093;AAP44001;AAQ89328;ABM81673;ABM83219;ABM86419;BAA25014;BAG37346;BAG61968;BAG64831;EAW92457;EAW92458;NP_001027539;NP_003701;NP_857593;O43278;XP_006720720 Hs.233950 1690554;1699980;1725561;2135594;2155490;2180332;2217812 G62007;PPP1R14D_2784;RH103600;RH47591;RH80144;STS-R72769;WI-21808 HAI;HAI-1;HAI1;MANSC2 OTTHUMP00000160545;hepatocyte growth factor activator inhibitor 1;hepatocyte growth factor activator inhibitor type 1;kunitz-type protease inhibitor 1;serine protease inhibitor, Kunitz type 1 APPROVED protein-coding ENSG00000166145 HGNC:11246 05494 605123 REVIEWED 1314110 SPIRE2 spire-type actin nucleation factor 2 ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN actin cytoskeleton organization; establishment of meiotic spindle localization; cleavage furrow formation (ortholog); FOUND IN cell cortex (ortholog); cleavage furrow (ortholog); cytoplasmic vesicle membrane (ortholog); INTERACTS WITH 17beta-estradiol; coumestrol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 q24 74959135 75003098 + 89894883 89937727 + 89828475 89871319 + 6480464 11347906;12477932;14702039;19605360 84501 H3BV39;H3BV74;Q8WWL2 AB058735;ABBA01014125;ABBA01014126;ABBA01014127;ABBA01014128;ABBA01014129;AC092385;AJ422077;AK094918;AK130685;AL834408;AMYH02032684;AMYH02032685;AMYH02032686;AMYH02032687;BC011119;BC063706;BC111030;BC139732;BX439688;CH471184;NM_032451;XM_006721302;XM_006721303;XM_006721304;XM_006721305;XM_006721306;XM_006721307 AAH63706;AAI11031;AAI39733;BAB47461;BAG52954;CAD19439;CAD39070;EAW66680;EAW66681;EAW66682;NP_115827;Q8WWL2;XP_006721365;XP_006721366;XP_006721367;XP_006721368;XP_006721369;XP_006721370 Hs.461786 1679549;2134359;2138501;5014039;5014051;5015404;5015619;5015961;5016478;5022200;5022450;5022651;5037552 D10S275;D11S2921;D11S3114;D15S1477;D22S1584;D8S2278;D8S2279;GDB:434012;L17705;L18426;RH67860;RH93207;SHGC-32044 MGC117166;Spir-2 spire actin nucleation factor 2;spire family actin nucleation factor 2;spire homolog 2 APPROVED protein-coding ENSG00000204991 HGNC:30623 18099 609217 VALIDATED 1602314 SPNS1 spinster homolog 1 (Drosophila) INVOLVED IN lipid transport (inferred); transmembrane transport (inferred); FOUND IN lysosomal membrane; INTERACTS WITH formaldehyde; methyl methanesulfonate; valproic acid 16 16 16 p11.2 27941112 27950884 + 28986028 28995869 + 28974711 28984548 + 6480464 11256614;11340170;12477932;12815463;14702039;17897319;21903422;22942098;23464991 83985 H3BMF4;H3BP14;H3BPQ9;H3BPT8;H3BR82;H3BT44;Q9H2V7 ABBA01045680;AC109460;AF212371;AF370423;AK095677;AK289787;AL390215;AL524908;AMYH02031820;BC006156;BC008325;BC038961;BC047741;BC065235;BG771918;CD368853;CH471267;NM_001142448;NM_001142449;NM_001142450;NM_001142451;NM_032038;XM_005255618;XM_006721096 AAG43830;AAH06156;AAH08325;AAH38961;AAH47741;AAH65235;AAQ15259;BAC04603;BAF82476;CAB99229;EAW52016;EAW52017;EAW52018;EAW52019;EAW52020;EAW52021;EAW52022;EAW52023;NP_001135920;NP_001135921;NP_001135922;NP_001135923;NP_114427;Q9H2V7;XP_005255675;XP_006721159 Hs.617449 1664607;2183319;5014063;5020414;5022322;5022578;5037552 D11S2560;D15S1390;D1S1423;D8S2279;G10208;L17688;SHGC-61115 FLJ38358;HSpin1;LAT;PP2030;SPIN1;SPINL;nrs OTTHUMP00000162565;protein spinster homolog 1;spinster-like protein 1 protein-coding ENSG00000169682 HGNC:30621 11599 612583 VALIDATED 737577 SPN sialophorin The protein encoded by this gene is a major sialoglycoprotein found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It may be part of a physiologic ligand-receptor complex involved in T-cell activation. During T-cell activation, this protein is actively removed from the T-cell-APC (antigen-presenting cell) contact site, suggesting a negative regulatory role in adaptive immune response. [provided by RefSeq, Sep 2011] 16 16 16 p11.2 73114178 73121702 - 29674271 29681828 + 29662950 29670507 + 1580863;2306199;2303983;6480464;7240710 11781327;7927732 10490978;10753822;10899905;10908570;11238599;11773067;12045189;12411317;12477932;12499775;12626536;12820726;12902492;1301183;14676827;14719063;15003504;15187099;15280197;15449712;15489334;15522211;16269612;16344560;16751378;16757688;1683685;1731338;17891181;17979485;17996943;18227725;1827122;18586676;18678668;19946888;2023632;21045567;21060818;21372249;21768350;21905200;21947346;22075155;22171268;2241892;22466560;22576689;22613599;22790855;22830021;23015282;23400223;23536680;23617469;23867815;24260485;2521952;2784859;2950285;8554898;8858161;9472040;9603925;9616160 6693 C9JUK7;P16150 ABBA01013122;ABBA01013123;AC009086;AC243806;AK292626;AK313750;BC012350;BC035510;CH471238;DA951208;DB108930;J04536;M61827;NM_001030288;NM_003123;X52075;X60502 AAA51949;AAB59540;AAH12350;ABM83188;ABM86390;BAF85315;BAG36490;CAA36294;EAW80015;EAW80016;NP_001025459;NP_003114;P16150 Hs.632188 1335294;1680339;1682587;1691210;1737581;1741361;1745603;1796874;2127917;2180018;5015861;5015961;5016478;5016596;5020948;5021396;5022322;5022651;5037552;5093644;5109281;5117897;7185938;7187470 D10S16;D11S2560;D11S2921;D15S1477;D16S2670;D1S1425;D7S511;D8S2279;G15885;G32839;G35510;GDB:180921;GDB:196680;GDB:313783;GDB:434012;GDB:626036;GDB:631802;GDB:631813;RH67531;RH70827;RH93020;SPN_423 CD43;GALGP;GPL115;LSN OTTHUMP00000123397;OTTHUMP00000196610;galactoglycoprotein;leukocyte sialoglycoprotein;leukosialin;sialophorin (gpL115, leukosialin, CD43);sialophorin (leukosialin, CD43) APPROVED protein-coding ENSG00000197471 HGNC:11249 06770 182160;615828 VALIDATED 1601816 SPNS3 spinster homolog 3 (Drosophila) INVOLVED IN lipid transport (inferred); transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); all-trans-retinoic acid (ortholog); benzo[a]pyrene (ortholog) 17 17 17 p13.2 4349747 4403640 + 4337219 4391499 + 4433924 4488204 + 6480464;8554872 12477932;17714910;20379614;23251661 201305 I3L3W7;Q6ZMD2 ABBA01054766;ABBA01054767;ABBA01054768;ABBA01054769;AC116910;AC127521;AK172832;AMYH02032821;BC023646;CH471108;NM_182538;XM_006721472 AAH23646;BAD18797;EAW90439;EAW90440;NP_872344;Q6ZMD2;XP_006721535 Hs.657543 1763127;1764233;1776631;1780196;1783556;2129311 D17S1584;RH65750;SHGC-146860;SHGC-147861;SHGC-154466;SHGC-154561 MGC29671 protein spinster homolog 3 protein-coding ENSG00000182557 HGNC:28433 14531 611701 VALIDATED 1315213 SPINK5 serine peptidase inhibitor, Kazal type 5 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q32 143524323 143597562 + 147443535 147516925 + 148063972 148137362 + 1599104;1580863;6480464;7240710;8554872;8699517 10835624 10419450;10712206;11511292;11544479;11594460;11796258;11841556;11874482;11943586;12437098;12752122;12915442;14551605;15005725;15304086;15366933;15466487;15675955;15680911;15820494;15942217;15986064;16374478;16519819;16601670;17333166;17415575;17596512;17936012;17989726;17989887;18029348;18588753;18774391;19118981;19247692;19438860;19522716;19534795;19674346;19913121;19996348;20085599;20107740;20395963;20533828;20628086;20701904;20800603;21087323;21564178;21585560;22017185;22089833;22377713;22570283;22588119;22730493;24015757;24390132 11005 E5RFU9;E5RG22;E7EWP9;Q9NQ38 ABBA01026319;ABBA01026320;AC008722;AC116334;AF086524;AF147363;AF295783;AF295784;AI341060;AJ228139;AJ391230;AK025197;AK299455;AK301660;AK307588;AK307648;AK309753;AMYH02012431;BI256857;BX648792;CH471062;DQ149927;DQ149928;DQ149929;DR421881;KF458030;NG_009633;NM_001127698;NM_001127699;NM_006846 AAI41546;AAK97139;AAK97140;ABA06534;ABA06535;ABA06536;BAG61426;BAG63135;CAB40839;CAB96877;EAW61815;NP_001121170;NP_001121171;NP_006837;Q9NQ38 Hs.331555 1658217;2141684 D5S2598;RH65250 DKFZp686K19184;FLJ21544;FLJ97536;FLJ97596;FLJ99794;NETS;NS LEKTI;LETKI;OTTHUMP00000165950;OTTHUMP00000165951;OTTHUMP00000165952;OTTHUMP00000223888;VAKTI;lympho-epithelial Kazal-type-related inhibitor;lymphoepithelial Kazal-type-related inhibitor;serine protease inhibitor Kazal-type 5;serine protease inhibitor, Kazal type 5 APPROVED protein-coding ENSG00000133710 HGNC:15464 05423 147050;256500;605010 REVIEWED 1315081 SPO11 SPO11 meiotic protein covalently bound to DSB Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008] 20 20 20 q13.31 52645068 52659286 + 55904831 55919049 + 57329775 57343993 + 1580863;6480464;8554872 10534401;10622720;11106738;11780052;12477932;15489334;16169419;18166824;20378615;20379614;21556891 23626 H0YCK9;Q5TCH6;Q5TCH7;Q9Y5K1 ABBA01052923;AF149310;AF169385;AL135939;AMYH02037352;AY957583;BC033591;CH471077;NM_012444;NM_198265;XM_005260379;XM_005260380;XM_005260381;XM_005260382;XR_244137 AAD44812;AAD52562;AAH33591;AAX44047;EAW75526;EAW75527;NP_036576;NP_937998;Q9Y5K1;XP_005260436;XP_005260437;XP_005260438;XP_005260439 Hs.159737 2109881 SPO11_9386 CT35;MGC39953;SPATA43 OTTHUMP00000031360;OTTHUMP00000031361;OTTHUMP00000031362;OTTHUMP00000031363;SPO11 meiotic protein covalently bound to DSB homolog;SPO11 meiotic protein covalently bound to DSB-like;SPO11, meiotic protein covalently bound to DSB-like;TOPVIA;cancer/testis antigen 35;meiotic recombination protein SPO11;spermatogenesis associated 43;spo11 meiotic protein covalently bound to dsb-like (s. cerevisiae) APPROVED protein-coding ENSG00000054796 HGNC:11250 09236 605114 REVIEWED 1345460 SPOCD1 SPOC domain containing 1 This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 1 1 1 p35.2 30525263 30551501 - 32256023 32281630 - 31790422 31816051 - 737633;6480464;8554872 12477932 14702039;16344560;19389623;21382349;24250222 90853 E9PKC3;E9PMX0;E9PPM7;E9PQH7;H0YF46;Q6ZMY3 ABBA01023448;ABBA01023449;ABBA01023450;AK058077;AK091016;AK095829;AK096192;AK097227;AK131447;AL354919;AMYH02000688;AMYH02000689;BC007910;BC029069;BC039870;BC114430;CA309202;CH471059;DB084307;NM_001281987;NM_001281988;NM_144569;XM_006711028;XM_006711029;XM_006711030;XM_006711031 AAH07910;AAH29069;AAH39870;AAI14431;BAB71652;BAC03567;BAC04722;BAC04981;BAD18592;EAX07586;EAX07587;EAX07588;NP_001268916;NP_001268917;NP_653170;Q6ZMY3;XP_006711091;XP_006711092;XP_006711093;XP_006711094 Hs.62604 1643834;5022450;5037552 D10S275;D8S2279;G16277 FLJ25348;FLJ39908;PPP1R146;RP11-84A19.1 OTTHUMP00000003954;OTTHUMP00000228471;OTTHUMP00000228473;SPOC domain-containing protein 1 protein-coding ENSG00000134668 HGNC:26338 08057 REVIEWED 1322984 SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 2008] 5 5 5 q31.2 132435878 132959945 - 136310987 136835018 - 136975298 137499329 - 1580863;6480464;8554872 11131125;11355883;11751414;12477932;12810672;12853036;14511383;14702039;15372022;16596217;19282985;19322201;20379614;23022495;23873022;23897914;24134845;7507743;8389704;8626787;9181134;9272383;9323035;9545645 6695 D3DQB3;D6RAM7;D6RB21;D6RFX3;Q08629 AB209701;ABBA01068709;ABBA01068710;AC004592;AC005213;AC091818;AC092270;AC106746;AC106787;AC106809;AF231124;AI674088;AK094489;AMYH02012265;AMYH02012266;AMYH02012267;AMYH02012268;AMYH02012269;AMYH02012270;AMYH02012271;AMYH02012272;BC030691;BG704964;BI550122;CH471062;KC877120;KC877134;NG_034127;NM_004598 AAC14063;AAC24945;AAF43687;AAH30691;ABM81840;ABM84991;BAD92938;BAG52875;EAW62185;EAW62186;NP_004589;Q08629 Hs.596136 1698354;1699630;1703724;1709620;1714965;1718907;1719839;1740413;1752889;1757939;1780778;1780780;1780792;1785666;1785690;2125267;2143033;2147637;2152457;2155611;2183147 1446;A002R29;D5S2225E;D5S2429;D5S2484;IB3085;L31473;RH102718;RH103418;RH120820;RH123159;RH123614;SHGC-106775;SHGC-146899;SHGC-66131;SHGC-78900;SHGC-78948;SHGC-85172;bac5202S;bac5202T;bac5208S FLJ37170;SPOCK;TIC1 OTTHUMP00000159433;TESTICAN;sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican);testican-1 APPROVED protein-coding ENSG00000152377 HGNC:11251 11887 602264 REVIEWED 1625643 SPNS2 spinster homolog 2 (Drosophila) ENCODES a protein that exhibits sphingolipid transporter activity (inferred); INVOLVED IN B cell homeostasis (inferred); bone development (inferred); lipid transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; cadmium dichloride 17 17 17 p13.2 4414308 4455423 + 4402129 4443228 + 4498834 4539933 + 6480464;8554872 12477932;12815463;19074308;21084291;23180825 124976 I3L4N9;Q8IVW8 AB441165;ABBA01054770;AC118754;AMYH02032822;BC041772;BC065221;NM_001124758;XM_006721448;XM_006721449 AAH41772;BAH15192;NP_001118230;Q8IVW8;XP_006721511;XP_006721512 Hs.22824 1645250 STS-AA009738 protein spinster homolog 2 protein-coding HGNC:26992 612584 PROVISIONAL 1351424 SPINT2 serine peptidase inhibitor, Kunitz type, 2 This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 19 19 19 q13.1 35557341 35585496 + 38755098 38783254 + 38264458 38292614 + 1580863;6480464;7240710;8699517;8554872 10824123;11013244;11606055;11777908;12180971;12211652;12477932;12522575;12553733;12569552;12571229;14558597;14695180;14734471;15340161;15388859;15489334;15717269;15930277;16236267;16353247;16364318;17255277;18029348;18358501;18689863;18713750;19047176;19107935;19148468;19185281;20009592;20063316;20687215;20715109;21832049;21890473;21898507;21906983;22505724;23293962;23443559;24142340;24269829;8601712;8895530;9045658;9115294;9346890;9359851;9434156 10653 K7EJS4;K7EKC8;K7EKQ0;K7EM91;K7ES27;K7ESI5;O43291 AB006534;ABBA01040677;AC011479;AF027205;AF231020;AI199013;AK127479;AK291532;AK297154;AMYH02036066;AW275313;AX772830;BC001668;BC007705;BC011951;BC011955;BC012868;BT020115;BT020116;BT020117;CH471126;CR407604;NG_013372;NM_001166103;NM_021102;U78095;Z36849 AAB84031;AAC02781;AAH01668;AAH07705;AAH11951;AAH11955;AAH12868;AAV38918;AAV38919;AAV38920;BAA25024;BAF84221;BAG59653;CAE06264;CAG28532;EAW56766;EAW56767;NP_001159575;NP_066925;O43291 Hs.31439 1335108;1663706;1771859;5022651 A007F08;D11S2921;D19S897;WI-14931 DIAR3;FLJ45571;HAI-2;HAI2;Kop;PB hepatocyte growth factor activator inhibitor type 2;kunitz-type protease inhibitor 2;placental bikunin;serine protease inhibitor, Kunitz type, 2 APPROVED protein-coding ENSG00000167642 HGNC:11247 05495 270420;605124 REVIEWED 1343453 SPON1 spondin 1, extracellular matrix protein INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular matrix; extracellular space; INTERACTS WITH 17beta-estradiol; 5-fluorouracil; 8-bromo-3',5'-cyclic AMP 11 11 11 p15.2 14109479 14415061 + 13984184 14289679 + 13962637 14268133 + 6480464;8554872 11368520;12096136;12168954;12477932;14702039;14983046;15489334;1555244;16103746;16303743;16344560;16965763;18602404;18780763;20379614;21488757;21569239;22228203;22244873;23333304;23471985;23535033;24057671;24158112;8889548;9872452 10418 Q3ZCT3;Q9HCB6 AB018305;AB051390;ABBA01061114;ABBA01061115;ABBA01061116;ABBA01061117;ABBA01061118;AC011084;AC074191;AC099738;AI424944;AK001584;AK074803;AK291780;AMYH02024350;AMYH02024351;BC019825;BC041974;BC136513;BC136563;BM671036;BQ026865;CH471064;CQ783692;DA965056;FO081837;NM_006108 AAH19825;AAH41974;AAI36514;AAI36564;BAA34482;BAB18461;BAC11217;BAF84469;BAG50943;CAF86814;EAW68488;EAW68489;NP_006099;Q9HCB6 Hs.643864 1338434;1644139;1661960;1665832;1695934;1704180;1767973;1770822;1773188;2106635;2147046;2172927;2172929;2175999;2176001;7186819 A005Y02;D11S1307;D11S2037;D11S2338;G20587;HSCZTB102;L17751;RH36458;RH77989;SHGC-78889;SHGC-79809;SPON1__5298;WI-11904;WI-13844;WI-18553 KIAA0762;MGC10724;f-spondin OTTHUMP00000235296;VSGP/F-spondin;spondin 1, (f-spondin) extracellular matrix protein;spondin-1;vascular smooth muscle cell growth-promoting factor protein-coding ENSG00000262655 HGNC:11252 16087 604989 VALIDATED 1605812 SPOPL speckle-type POZ protein-like INVOLVED IN negative regulation of protein ubiquitination; proteasome-mediated ubiquitin-dependent protein catabolic process; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Cul3-RING ubiquitin ligase complex; INTERACTS WITH amiodarone; benzo[a]pyrene; copper(2+) sulfate 2 2 2 q22.1 132970983 133042402 + 139259350 139330805 + 138501780 138573235 + 6480464;8554872 12477932;14702039;15146197;15489334;16651542;16740475;17207965;23241943 339745 F8WBB7;F8WD02;Q6IQ16 AA737682;ABBA01028122;ABBA01028123;AC092620;AC114763;AK094583;AK293850;AMYH02004875;BC071613;BX538143;CD643025;CH471058;CN315400;NM_001001664;XM_005263655;XM_005263656;XM_005263657 AAH71613;ADQ31920;BAG57248;EAX11609;NP_001001664;Q6IQ16;XP_005263712;XP_005263713;XP_005263714 Hs.333297 1644684;1701550;1852880;1854994;2115716;2122850 D2S1795;D2S2867;RH104408;SHGC-36231;WI-11168;WI-11856 BTBD33;FLJ53775 HIB homolog 2;OTTHUMP00000204219;roadkill homolog 2 protein-coding ENSG00000144228 HGNC:27934 11261 VALIDATED 1352786 SPON2 spondin 2, extracellular matrix protein ENCODES a protein that exhibits antigen binding (inferred); lipopolysaccharide binding (inferred); metal ion binding (inferred); INVOLVED IN axon guidance (inferred); cell adhesion (inferred); cellular response to lipopolysaccharide (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene 4 4 4 p16.3 1093221 1099481 - 1160720 1202750 - 1166932 1208962 - 1580863;6480464 10512675;12477932;12975309;14702039;15094111;15489334;16303743;16344560;16368877;18239089;19056867;19153605;19903741;20379614;21098016;21632881;22615945 10417 D6RA41;D6RB12;D6RBY3;D6REX2;D6RFY9;D6RIH5;Q9BUD6 AA864573;AB027466;ABBA01019358;ABBA01019359;ABBA01019360;AC092535;AK024499;AK026054;AK074618;AK074770;AK130164;AMYH02008573;AMYH02008574;AMYH02008575;AMYH02008576;AY358948;BC002707;BC036341;BC086866;BY797606;CB104725;CH471131;CQ782706;DA087369;DA092888;DA201089;DA375259;DB249869;DB254983;NM_001128325;NM_001199021;NM_012445 AAH02707;AAH36341;AAQ89307;AAY40988;BAA85892;BAB15789;BAC11092;BAC11196;CAF85941;EAW82604;EAW82605;EAW82606;NP_001121797;NP_001185950;NP_036577;Q9BUD6 Hs.302963;Hs.635350;Hs.736956 1665989;1735390;2142623 D4S2552E;WI-22263;WI-22617 DIL-1;DIL1;DKFZp686G21139;FLJ16313;FLJ22401;FLJ34460 M-spondin;Mindin;OTTHUMP00000112810;differentially expressed in cancerous and non-cancerous lung cells 1;spondin-2 protein-coding ENSG00000159674 HGNC:11253 16174 605918 VALIDATED 1602994 SPPL2A signal peptide peptidase like 2A This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012] 15 15 15 q21.2 27892656 27950835 - 50999730 51057910 - 50707533 50765713 - 6480464 12077416;12139484;12477932;14702039;15385547;15489334;16189514;16303743;16344560;16829951;16829952;17557115;17897319;17965014;21896273;21988832;23969696;24162737;24872421 84888 H0YNA2;H0YNA7;Q8TCT8 AA988423;ABBA01039104;ABBA01039105;AC012100;AJ345028;AJ420896;AK027446;AK075454;AK315651;AMYH02030417;AMYH02030418;AY169314;BC025740;CH471082;DA023801;NM_032802;XM_005254722;XM_005254723;XM_005254724 AAH25740;AAO12539;BAB55117;BAC11630;BAG38017;CAC87789;CAD13133;EAW77410;NP_116191;Q8TCT8;XP_005254779;XP_005254780;XP_005254781 Hs.401537 1853891;5491730 SPPL2A;WI-11902 IMP-3;IMP3;PSL2 OTTHUMP00000162418;SPP-like 2A;intramembrane cleaving protease;intramembrane protease 3;presenilin-like protein 2;signal peptide peptidase-like 2A APPROVED protein-coding HGNC:30227 09742 608238 REVIEWED 1323163 SPOP speckle-type POZ protein This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 17 17 17 q21.33 44131243 44210519 - 47676246 47755525 - 49598884 49678163 - 1580863;6480464;6484113 10426994;11076863;11279055;12183056;12426564;12426565;12477932;12740575;14702039;15121856;15240113;15489334;15489336;15897469;16189514;16381901;16524876;16651542;16740475;17353931;18218622;18414007;18997279;19164706;19256485;19261606;19762545;19818708;20379614;21139048;21573799;21577200;21890473;21906983;21988832;22013077;22053931;22085717;22632832;22911784;23216165;23535732;23559371;23654205;23999291;24072710;24250222;24451148;24508459;24563616;24656772;24796539;25011449;8125298;8889548;9414087 8405 D6RA79;D6RBH6;D6RBR3;D6RD94;D6RDG8;D6RDV6;D6RFL7;D6RGZ4;D6RIS7;H0Y977;O43791 ABBA01041210;ABBA01041211;ABBA01041212;AC006487;AC015795;AJ000644;AK123385;AK222589;AK293045;AK293587;AK300616;AK303268;AK312691;AK316366;AMYH02033577;AW449169;AX134283;BC001269;BC003385;BM693397;BQ226031;BX282325;CB992730;CH471109;KC877669;NM_001007226;NM_001007227;NM_001007228;NM_001007229;NM_001007230;NM_003563;W84567;XM_005257723;XM_005257724 AAH01269;AAH03385;BAD96309;BAF85734;BAG35570;BAG57055;BAG62309;BAG64350;BAH14737;CAA04199;CAC39513;CAL37466;CAL37521;CAL37609;CAL37886;CAL38444;CAL38701;EAW94671;EAW94672;EAW94673;EAW94674;EAW94675;NP_001007227;NP_001007228;NP_001007229;NP_001007230;NP_001007231;NP_003554;O43791;XP_005257780;XP_005257781 Hs.463382;Hs.740407 1697376;1769058;1789334;1791270;1851492;1853958;2143993;2173252;2179711;2187666 D17S1671;G67888;L18224;L18236;MARC_9787-9788:996688611:1;RH102186;RH35962;SHGC-34743;WI-11042;WI-16848 BTBD32;TEF2 HIB homolog 1;OTTHUMP00000220321;OTTHUMP00000220322;OTTHUMP00000220351;OTTHUMP00000220424;OTTHUMP00000220425;OTTHUMP00000220426;OTTHUMP00000220430;OTTHUMP00000220431;roadkill homolog 1 APPROVED protein-coding ENSG00000121067 HGNC:11254 16004 602650 REVIEWED 1601988 SPPL2B signal peptide peptidase like 2B This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 2262722 2289416 + 2328629 2355100 + 2328630 2355102 + 6480464 10819331;12077416;12139484;12477932;15057824;15385547;15489334;15998642;16829951;16829952;16873890;17965014;18768471;19114711;22194595;23384347;24250222;8889548 56928 Q8TCT7 AB040965;ABBA01002722;ABBA01002723;ABBA01002724;AC004410;AC005258;AJ345027;AJ420897;AK226130;AK308973;AK309122;AL365405;AMYH02035190;AMYH02035191;AY169315;BC001788;BC028391;BC093046;BU733058;CH471139;KF459714;NG_032984;NM_001077238;NM_152988 AAC05601;AAG45441;AAH01788;AAH28391;AAH93046;AAO12540;BAA96056;CAB96951;CAC87788;CAD13134;EAW69383;EAW69384;EAW69385;EAW69386;EAW69387;EAW69388;NP_001070706;NP_694533;Q8TCT7 Hs.744026 1679253;1685109;1770030;2136582;2168237 RH39163;RH92744;STS-R61296;WI-14369;WI-21761 FLJ99014;IMP-4;IMP4;KIAA1532;MGC111084;PSH4;PSL1 SPP-like 2B;intramembrane protease 4;presenilin homologous protein 4;presenilin-like protein 1;signal peptide peptidase-like 2B APPROVED protein-coding ENSG00000005206 HGNC:30627 09743 608239 REVIEWED 1606947 SPPL2C signal peptide peptidase like 2C ENCODES a protein that exhibits protein homodimerization activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum membrane; integral component of cytoplasmic side of endoplasmic reticulum membrane; integral component of lumenal side of endoplasmic reticulum membrane; INTERACTS WITH arsenous acid; diarsenic trioxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q21.31 40569532 40571714 + 43922256 43924438 + 45844890 45847072 + 6480464;8554872 12139484;12477932;15293277;15385547;16415175;16829952;17965014;21738487;22693459;24429156 162540 Q8IUH8 ABBA01031190;AC003662;AC217770;AC217771;AC243621;AY169316;BC022041;BC025401;CH471233;NM_175882 AAH22041;AAH25401;AAO12541;EAW93564;NP_787078;Q8IUH8 Hs.144491 IMP-5;IMP5;SPP-like 2C intramembrane protease 5;signal peptide peptidase-like 2C APPROVED protein-coding ENSG00000185294 HGNC:28902 07085 608284 VALIDATED 1318416 SPOCK2 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 10 10 10 pter-q25.3 67102339 67132032 - 73818792 73848790 - 72059034 72089032 - 1580863;6480464;8554872 10386950;12421765;12477932;12810672;12975309;15340161;15342556;15489334;16344560;16385451;17081983;17950619;18398821;21216879;21836138;22832964;9039502 9806 F5H283;Q92563 AA922448;ABBA01020366;AC022392;AJ001453;AK292328;AK294008;AK307091;AMYH02023305;AMYH02023306;AW026489;AY358921;BC023558;BP252465;BQ002304;BQ029472;CH471083;D87465;DA150747;DC305070;NM_001134434;NM_001244950;NM_014767;XM_005270302 AAH23558;AAQ89280;ABM84313;ABM87706;BAA13404;BAF85017;BAG57370;CAA04774;EAW54441;EAW54442;EAW54443;NP_001127906;NP_001231879;NP_055582;Q92563;XP_005270359 Hs.523009 1694536;1720967;1736060;1736114;1745991;2143059;2165169;2170869;2190967;5093070 A009F10;D10S1334E;D10S1385E;D10S1469;G32501;G43106;G59313;MARC_12153-12154:1004708400:3;RH125661;SHGC-32487 FLJ97039 OTTHUMP00000019778;SPARC/osteonectin, CWCV, and Kazal-like domains proteoglycan 2;testican-2 APPROVED protein-coding ENSG00000107742 HGNC:13564 12146 607988 REVIEWED 1313840 SPOCK3 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 4 4 4 q32.3 164991472 165486546 - 167654535 168155741 - 166733384 167234590 - 1580863;6480464;8554872 11751414;12477932;12810672;12975309;14702039;15489334;17207965;19144404;20379614;22610502;23251661 50859 B4DG04;B4DI52;E7EMP8;E7ENM6;E7ENT7;E7ENY3;E7EQ24;E7ESN1;E7EVH4;H0YA19;Q4W5S3;Q9BQ16 AB056866;ABBA01070310;ABBA01070311;ABBA01070312;ABBA01070313;ABBA01070314;ABBA01070315;ABBA01070316;ABBA01070317;ABBA01070318;AC010103;AC020599;AC023492;AC107210;AJ001454;AK091078;AK294293;AK294346;AK294637;AK295015;AK295281;AK295407;AK295414;AK296291;AK313042;AMYH02010454;AMYH02010455;AMYH02010456;AMYH02010457;AMYH02010458;AMYH02010459;AMYH02010460;AMYH02010461;AMYH02010462;AMYH02010463;AY358973;BC000460;BC003017;BC013983;BI603782;CH471056;DN989433;NG_030414;NM_001040159;NM_001204352;NM_001204353;NM_001204354;NM_001204355;NM_001204356;NM_001204358;NM_001251967;NM_016950;XM_005263041 AAH00460;AAH03017;AAH13983;AAQ89332;AAY40960;AAY40993;ADQ32173;BAB64908;BAG35874;BAG52279;BAG57576;BAG57615;BAG57816;BAG58075;BAG58265;BAG58358;BAG58364;BAG58995;CAA04775;EAX04811;EAX04812;NP_001035249;NP_001191281;NP_001191282;NP_001191283;NP_001191284;NP_001191285;NP_001191287;NP_001238896;NP_058646;Q9BQ16;XP_005263098 Hs.481133 1335327;1337179;1337464;1652154;1659658;1659660;1659722;1666401;1695658;1750637;1752311;1768151;1770861;1785198;2127457;2135493;2143891;7185600 D4S2292;D4S2337;D4S2388;D4S3257;D4S417;D4S620;D4S867;SHGC-106257;SHGC-1066;SHGC-111948;SHGC-44435;SHGC-50613;SHGC-50674;SHGC-67641;SHGC-78701;SHGC-84230;SHGC-8990 HSAJ1454;TES-3;TICN3 OTTHUMP00000219853;OTTHUMP00000219854;OTTHUMP00000219857;OTTHUMP00000219858;OTTHUMP00000219862;OTTHUMP00000219864;OTTHUMP00000219865;OTTHUMP00000219866;OTTHUMP00000219867;OTTHUMP00000219868;SPARC/osteonectin, CWCV, and Kazal-like domains proteoglycan 3;testican 3;testican-3 APPROVED protein-coding ENSG00000196104 HGNC:13565 12147 607989 REVIEWED 1605007 SPPL3 signal peptide peptidase like 3 ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving; protein homodimerization activity; INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi-associated vesicle membrane; integral component of cytoplasmic side of endoplasmic reticulum membrane; integral component of lumenal side of endoplasmic reticulum membrane; INTERACTS WITH benzo[a]pyrene diol epoxide I; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 12 12 12 q24.31 120835168 120976050 - 121200313 121342155 - 120762510 120904352 - 6480464;8554872 12077416;12139484;12477932;12975309;14702039;15385547;15489334;15998642;16829952;16873890;17965014;19197348;19322201;20379614;21963094;23132852;24250222;8125298 121665 F5H2A2;F5H4L1;F5H4Y6;F5H6I1;F5H7J2;Q8TCT6;Q9UG23 AB252457;ABBA01020137;ABBA01020138;ABBA01020139;ABBA01020140;AC069214;AC069234;AF086117;AI676074;AJ345030;AJ420898;AK074916;AK097149;AK223590;AK291161;AL110147;AL834399;AMYH02027381;AMYH02027382;AMYH02027383;AMYH02027384;AMYH02027385;AY169313;AY358767;BC009551;BC025781;BC073910;BC101625;BC101627;BU932077;BX640849;CH471054;NM_139015;XM_005253841 AAH09551;AAH25781;AAH73910;AAI01626;AAI01628;AAO12538;AAQ89127;BAC11290;BAD97310;BAF30928;BAF83850;CAB53661;CAC87791;CAD13135;EAW98220;EAW98221;EAW98222;EAW98223;NP_620584;Q8TCT6;XP_005253898 Hs.507087;Hs.683964 1683916;1689694;1700516;1846761;1846889;2116297;2162633;2165288;2165705;5022322;5022578;5037552 A006Q41;D11S2560;D12S2073;D1S1423;D4S2372;D8S2279;RH103879;RH44592;RH66303;RH75805;RH93199;SGC34924 DKFZp586C1324;IMP-2;IMP2;MDHV1887;MGC126674;MGC126676;MGC90402;PRO4332;PSH1;PSL4 OTTHUMP00000240480;SPP-like 3;intramembrane protease 2;presenilin homologous protein 1;presenilin-like protein 4;signal peptide peptidase-like 3 APPROVED protein-coding ENSG00000157837 HGNC:30424 09744 608240 VALIDATED 1346391 SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008] 2 2 2 p14-p12 72965357 72970134 + 73114512 73119289 + 72887383 72892160 + 1600054;1580863;6480464;6907045;7240710;8554872;8699517 11443547 10384371;11825621;12477932;15161933;15197144;15241655;15489334;16443856;17188538;17270157;18029348;18502672;18781797;1883349;19027726;19056867;19415819;19491146;19674121;20038947;20301334;20337188;20877624;21139048;21782285;21890473;22018912;22939629;23000965;23640889;24096079;24816145;3536512;7782081;8125298;8304109;8440319;9700606;9792819 6697 P35270;Q9UEC5 AB017547;AB017548;ABBA01075574;AC012366;AC092630;AK222942;AK291856;AMYH02004070;BC017310;BF434649;CH471053;M76231;NG_008234;NM_003124;S71376 AAA60314;AAD14079;AAH17310;AAY14743;AAY15035;ABM82625;ABM85806;BAA34534;BAA34535;BAD96662;BAF84545;EAW99757;EAW99758;NP_003115;P35270 Hs.301540 1734874;1855960 D2S1632E;D2S2713 SDR38C1 OTTHUMP00000160199;sepiapterin reductase;short chain dehydrogenase/reductase family 38C, member 1 APPROVED protein-coding ENSG00000116096 HGNC:11257 01632 182125;612716 REVIEWED 1319580 SPRED2 sprouty-related, EVH1 domain containing 2 SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008] 2 2 2 p14 65384626 65506328 - 65534580 65659733 - 65307442 65432637 - 1580863;6480464;6907045;8554872 11493923;12477932;12646235;14702039;14981116;15184877;15213456;15465815;15489334;15580519;15683364;15946934;16344560;16652141;17094949;17974561;19120036;19322201;19822672;19908229;20379614;20453842;20677014;21364986;21383967;21703232;22305891;22505724;22777171;23128233;23169297;24390342;8619474;9110174 200734 B3KPL5;C9J623;C9JG63;H7C065;H7C2T4;H7C3Y6;Q7Z698 ABBA01075438;ABBA01075439;AC012370;AC097503;AF052178;AK025550;AK056479;AK299079;AK307714;AMYH02003979;AMYH02003980;AMYH02003981;AY299090;BC029300;BC111495;BC130292;BC136334;CH471053;DA102390;DC335282;NM_001128210;NM_181784;XM_005264200;XM_005264201;XM_005264202;XM_006711966 AAI11496;AAI30293;AAI36335;AAP59415;ADR83003;BAG51727;BAH12943;EAW99904;EAW99905;EAW99906;NP_001121682;NP_861449;Q7Z698;XP_005264257;XP_005264258;XP_005264259;XP_006712029 Hs.59332 1336838;1341532;1659512;1708258;1714631;1849518;2120945;2160853;2170460;2179501;7185610 D2S2231;D2S2501;D2S380;RH120292;RH16568;RH78845;SHGC-31078;SHGC-57719;SHGC-64931;SHGC-79393 FLJ21897;FLJ31917;MGC163164;Spred-2 OTTHUMP00000202294;OTTHUMP00000202297;OTTHUMP00000225519;sprouty protein with EVH-1 domain 2, related sequence;sprouty-related, EVH1 domain-containing protein 2 APPROVED protein-coding ENSG00000198369 HGNC:17722 18100 609292 VALIDATED 1318683 SPRED1 sprouty-related, EVH1 domain containing 1 The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008] 15 15 15 q14 15312281 15416681 + 38544925 38649450 + 38252724 38357249 + 6480464;6907045;7240710;8554872;8699517 11493923;12477932;12646235;14702039;15231748;15465815;15683364;16115197;16344560;16652141;17094949;17672918;17704776;17974561;18029348;18216281;19120036;19322201;19366998;19389623;19443465;19913121;19920235;20179001;20339110;20628086;20945555;21139048;21364986;21531714;21616146;21649642;21900206;22321011;22751498;22753041;23000965;23016555;23128233;23455924;23646285;23811937;23823658;24014835;24334617 161742 H0YMN8;Q7Z699 ABBA01038481;AC069381;AK091222;AK095219;AL833561;AMYH02030213;AY299089;BC018015;BC137480;BC137481;BX538234;CH471125;DA405650;NG_008980;NM_152594;XM_005254202;XM_005254203 AAH18015;AAI37481;AAI37482;AAP59414;BAC03614;EAW92368;NP_689807;Q7Z699;XP_005254259;XP_005254260 Hs.525781 1649986;1652778;1701268;1981254;2219712;5024761;5037386 D15S221;REN61523;RH104263;RH36905;SPRED1__5300;STS-AA026390;WI-14940 FLJ33903;NFLS;PPP1R147;hSpred1;spred-1 EVH1/Sprouty domain containing protein;sprouty-related, EVH1 domain-containing protein 1;suppressor of Ras/MAPK activation APPROVED protein-coding ENSG00000166068 HGNC:20249 11601 609291;611431 REVIEWED 1606081 SPRED3 sprouty-related, EVH1 domain containing 3 This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 19 19 19 q13 35683176 35689108 + 38880840 38890524 + 38389979 38399884 + 6480464;8554872 12477932;12646235;14618415;16465403;16478641;17094949;19423641 399473 B9EKV1;K7EKP4;K7EPT9;K7EPU5;Q2MJR0 ABBA01040680;AC005789;AI028379;AI871425;AMYH02036070;AMYH02036071;BC151136;BF983829;DQ323927;DQ323928;HG510783;NM_001042522;NR_073032;XM_006723219 AAI51137;ABC54711;ABC54712;NP_001035987;Q2MJR0;XP_006723282 Hs.196011 5014740;5016596;5024756 D17S610;GDB:631802;RH80030 AC005789.11;Eve-3;spred-3 sprouty-related, EVH1 domain-containing protein 3 APPROVED protein-coding HGNC:31041 609293 REVIEWED 1344565 SPP2 secreted phosphoprotein 2, 24kDa This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008] 2 2 2 q37.1 228679717 228706136 + 234959346 234985776 + 234050702 234077132 + 1580863;6480464 12477932;15062857;15489334;15815621;19240061;19375587;20548944;7814406;9533032 6694 C9J6K0;Q13103 ABBA01001953;ABBA01001954;AC006037;AJ272265;AJ308099;AMYH02006013;BC069401;BC106705;BC112438;BC113972;CH471063;NG_008668;NM_006944;U20530;XM_005246102 AAA87905;AAH69401;AAI06706;AAI12439;AAX93090;CAB75571;CAC87050;EAW71070;NP_008875;Q13103;XP_005246159 Hs.444488 1746007;1798494;1798804;1798884;1799084;1801402;1802268;1808982;1812822;1822194;1825864;1826456;1827616;1831228;1831994;1832274;1832686;1833280;1833774;1836430;1836878;1837424;1838220;1838832;1841220;1841276;1841384;1843846;1844712;1848025;1854763;1947862;1947864;1947866;1947868;1947870;1947872;1947874;1947876;1947878;1947880;1947882;1947884;1947886;1947888;1947890;1947892;1947894;1947896;1947898;1947900;1947902;1947904;1947906;1947908;1947910;1947912;1947914;1947916;1947918;1947920;1947922;1947924;1947926;1947928;1947930;1947932;1947934;1947936;1947938;1947940;1947942;1947944;1947946;1947948;1947950;1947952;1947954;1947956;1947958;1947960;1947962;1947964;1947966;1947968;1947970;1947972;1947974;1947976;1947978;1947980;1947982;1947984;1947986;1947988;1947990;1947992;1947994;1947996;1947998;1948000;1948002;1948004;1948006;1948008;1948010;1948012;1948014;1948016;1948018;1948020;1948022;1948024;1948026;1948028;1948030;1948032;1948034;1948036;1948038;1948040;1948042;1948044;1948046;1948048;1948050;1948052;1948054;1948056;1948058;1948060;1948062;1948064;1948066;1948068;1948070;1948072;1948074;1948076;1948078;1948080;2185402;2201820;2201822;2201824;2201826;2201828;2201830;2201832;2201834;2201836;2201838;2201840;2201842;2201844;2201846;2201848;2201850;2201852;2201854;2201856;2201858;2201860;2201862 ECD00085;ECD00242;ECD00282;ECD00388;ECD01574;ECD02018;ECD05474;ECD07424;ECD12183;ECD14040;ECD14342;ECD14927;ECD16750;ECD17135;ECD17275;ECD17484;ECD17783;ECD18032;ECD19377;ECD19603;ECD19879;ECD20282;ECD20595;ECD21805;ECD21834;ECD21888;ECD23134;ECD23571;REN44776;REN44777;REN44778;REN44779;REN44780;REN44781;REN44782;REN44783;REN44784;REN44785;REN44786;REN44787;REN44788;REN44789;REN44790;REN44791;REN44792;REN44793;REN44794;REN44795;REN44796;REN44797;REN44798;REN44799;REN44800;REN44801;REN44802;REN44803;REN44804;REN44805;REN44806;REN44807;REN44808;REN44809;REN44810;REN44811;REN44812;REN44813;REN44814;REN44815;REN44816;REN44817;REN44818;REN44819;REN44820;REN44821;REN44822;REN44823;REN44824;REN44825;REN44826;REN44827;REN44828;REN44829;REN44830;REN44831;REN44832;REN44833;REN44834;REN44835;REN44836;REN44837;REN44838;REN44839;REN44840;REN44841;REN44842;REN44843;REN44844;REN44845;REN44846;REN44847;REN44848;REN44849;REN44850;REN44851;REN44852;REN44853;REN44854;REN44855;REN44856;REN44857;REN44858;REN44859;REN44860;REN44861;REN44862;REN44863;REN44864;REN44865;REN44866;REN44867;REN44868;REN44869;REN44870;REN44871;REN44872;REN44873;REN44874;REN44875;REN44876;REN44877;REN44878;REN44879;REN44880;REN44881;REN44882;REN44883;REN44884;REN44885;RH118391;RH16609;RH78151;WI-17802;stSG620363;stSG620364;stSG620365;stSG620367;stSG620368;stSG620369;stSG620370;stSG620371;stSG620372;stSG620373;stSG620374;stSG620375;stSG620376;stSG620377;stSG620378;stSG620379;stSG620380;stSG620381;stSG620382;stSG620383;stSG620384;stSG620385 SPP-24;SPP24 OTTHUMP00000065381;OTTHUMP00000065382;OTTHUMP00000203243;secreted phosphoprotein 2, 24kD;secreted phosphoprotein 24 APPROVED protein-coding ENSG00000072080 HGNC:11256 04029 602637 REVIEWED 1602261 SPRNP1 shadow of prion protein homolog (zebrafish) pseudogene 1 INTERACTS WITH formaldehyde 10 10 10 q26.3 128137825 128140983 + 135380438 135383462 - 133566934 133569958 - 6480464 12477932;16385451;20206252 399833 Q6ZTH4 AC245077;AK126615;AL161645;BC136964;NR_033789 AAI36965;BAC86613 Hs.660426 1789114;2138441 G65691;RH47563 FLJ44653 APPROVED pseudo HGNC:37819 13492 VALIDATED 736066 SPP1 secreted phosphoprotein 1 The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 4 4 4 q22.1 86188727 86196490 + 88896802 88904563 + 87975650 87983411 + 1581118;1581125;1581321;1581322;1581323;1581324;1581325;1581326;1581327;1581328;1581329;1581330;1581331;1581332;1581333;1581334;1581336;1581337;1581338;1581339;1581341;1581342;1581343;1581357;1581358;1581359;1581360;1581361;1581362;1581363;1581364;1581365;1581366;1581367;1581368;1581369;1581370;1581371;1581372;1581374;1581375;1581381;1581382;1581383;1581386;1581390;1581391;1581472;1580863;6480464;6903271;6903869;6903264;6903276;6903839;5131995;6903275;6903272;6903837;6903862;6484113;6903265;6907045;6483848;9068449 11567232;11721059;11920639;12032186;12114325;12132583;12620700;12675855;12730087;12939547;14500723;14513263;15123578;15165989;15531104;15534078;15592854;15625076;15712659;15735673;15757900;15761492;15776015;15845635;15863395;15867270;15868370;15885319;15949549;15954903;15970685;15998773;16047475;16105024;16145474;16208410;16221502;16299231;16331611;16373617;16412998;16421174;16428483;16474180;16528250;16533775;16552072;16633066;16651633;16679731;18390899;18422975;18443355;20504883;20548025;20720406;20926632;21034455;21378157;21483670;22863853 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;23441154;23508392;23515922;23545719;23589674;23613225;23619316;23619422;23636305;23652051;23675517;23680656;23692545;23711950;23717583;23726130;23728336;23729174;23764959;23774402;23775819;23784265;23867349;23875677;23880208;23883434;23891093;23900428;23910387;23952692;24012693;24021319;2404984;24065086;24071501;24084099;24084141;24120738;24126938;24140708;24157812;24188933;24212839;24215488;24239954;24240095;24327307;24338767;24347266;24355932;24440093;24472267;24674683;2726470;2736258;2808373;7522656;7532190;7592829;7665163;7837791;7945249;8195113;8325891;8535605;8619474;8663267;8835534;8910476;9110174;9547293;9614184 6696 B7Z351;D6R9C5;P10451;Q3LGB0 AA665210;AB209987;AB469789;ABBA01063542;AC131944;AF052124;AK057738;AK075463;AK290090;AK290104;AK295491;AK296035;AK315461;AMYH02009685;AY956318;BC007016;BC017387;BC022844;BC093033;BF699765;BX648003;CB117856;CH471057;D14813;D28759;D28760;D28761;DA419665;DQ839491;DQ846870;DQ846871;GN077143;HI519544;HQ874460;HQ874461;J04765;JF412666;JF412667;M83248;NG_030362;NM_000582;NM_001040058;NM_001040060;NM_001251829;NM_001251830;U20758;X13694 AAA17675;AAA59974;AAA86886;AAC28619;AAH07016;AAH17387;AAH22844;AAH93033;AAX59003;AAY41035;ABI63352;ABI63357;ABI63358;ABM83470;ABM86681;ACE86697;ACE87381;AEA49027;AEA49028;AEA49030;AEA49031;BAA03554;BAA05949;BAA05950;BAA05951;BAC11635;BAE45628;BAF82779;BAF82793;BAG37848;BAG58801;BAH12087;BAH58215;CAA31984;CAL37646;CAL37776;CAX69239;CBX54353;EAX06004;EAX06005;EAX06006;EAX06007;EAX06008;EAX06009;EAX06010;NP_000573;NP_001035147;NP_001035149;NP_001238758;NP_001238759;P10451 Hs.313 1650163;1666587;1672841;1750133;1751987;1794556;1794722;2142665;2218056 D4S3132;PMC317379P2;PMC351321P4;SHGC-105963;SHGC-112251;SHGC-36594;SHGC-59479;SHGC4-1078;SPP1_3239 BNSP;BSPI;ETA-1;MGC110940;OPN;SPP-1 OTTHUMP00000161173;OTTHUMP00000161174;OTTHUMP00000218555;OTTHUMP00000218556;SPP1/CALPHA1 fusion;bone sialoprotein 1;bone sialoprotein I;early T-lymphocyte activation 1;nephropontin;osteopontin;osteopontin-C;osteopontin-D;osteopontin/immunoglobulin alpha 1 heavy chain constant region fusion protein;secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1);secreted phosphoprotein-1 (osteopontin, bone sialoprotein);urinary stone protein;uropontin APPROVED protein-coding ENSG00000118785 HGNC:11255 01325 166490 REVIEWED 1602790 SPRN shadow of prion protein homolog (zebrafish) ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN protein import into nucleus (inferred); FOUND IN anchored component of membrane (inferred); cytosol (inferred); nucleolus (inferred); INTERACTS WITH arsane; arsenic atom; cobalt dichloride 10 10 10 q26.3 128279719 128283670 + 135234170 135238623 - 133420666 133425163 - 6480464 12477932;14527721;15342797;18778261;18805828;19913121;20379614;20628086;21257747;8889548;9776767 503542 Q5BIV9 ABBA01006216;ABBA01006217;ABBA01006218;ABBA01006219;ABBA01006220;ABBA01006221;ABBA01006222;AK123191;AL161645;AMYH02024095;AW293555;BC040198;BN000518;CD580523;NM_001012508;XM_005252684 AAH40198;CAG34288;NP_001012526;Q5BIV9;XP_005252741 Hs.64968 1677740;1697818;1731042;1742367;1771306;1773987;1775501;1782136;1782182;1789114;1851795;2134311;2134745;2138441;2145078;2146034;2146036;2146365;2157762;2217242 A002U38;A006I19;CYP2E1_2771;D10S1371E;D10S2350;D10S2410;D10S2490;D10S271;G06274;G20843;G65691;GDB:196492;RH102433;RH1572;RH44494;RH47563;RH91171;SHGC-155358;SHGC-156078;WI-14945 FLJ41197;SHO;bA108K14.1 OTTHUMP00000235372;hypothetical protein BC004409;shadoo;shadow of prion protein protein-coding ENSG00000203772 HGNC:16871 18499 610447 VALIDATED 1323772 SPRR1B small proline-rich protein 1B ENCODES a protein that exhibits protein binding, bridging; structural molecule activity; INVOLVED IN keratinocyte differentiation; peptide cross-linking; FOUND IN cornified envelope; extracellular vesicular exosome; INTERACTS WITH (+)-catechin; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 q21-q22 126074469 126076154 + 153003679 153005376 + 153031203 153032900 + 1580863;6480464 10908733;12091247;12477932;12832281;1438308;1482123;15489334;1627333;16710414;18172072;18643845;19601998;20360068;23954638;3133554;7829876;8325635;8388378;8631988;8889548;9115270 6699 P22528 ABBA01049430;AL356867;AMYH02001898;AY787223;BC056240;CH471121;CK300778;DQ323996;M19888;M21300;M21301;M84757;NM_003125 AAA36636;AAA36637;AAA36638;AAA36643;AAH56240;AAI56327;AAI57077;AAV40826;ABC88598;EAW53351;NP_003116;P22528 Hs.1076 2115335;2146527 D1S2400;RH17671 GADD33;MGC61901;SPR-IB;SPRR1 14.9 kDa pancornulin;OTTHUMP00000015753;cornifin;cornifin B;cornifin-B;small proline-rich protein IB APPROVED protein-coding ENSG00000169469 HGNC:11260 01648 182266 PROVISIONAL 1320715 SPRR1A small proline-rich protein 1A ENCODES a protein that exhibits protein binding, bridging; structural molecule activity; INVOLVED IN keratinocyte differentiation; peptide cross-linking; ASSOCIATED WITH Melanoma (inferred); FOUND IN cornified envelope; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 1 1 1 q21-q22 126027347 126029080 + 152956564 152958290 + 152984088 152985814 + 1580863;6480464;8554872 10066784;10908733;11076863;11279051;11850458;12477932;15489334;18643845;19322201;19601998;19672094;24457600;7829876;8018055;8325635;9008234;9115270;9931436 6698 P35321 ABBA01049429;AL356867;AMYH02001898;AW204307;AY755659;BC105081;BC105083;CH471121;L05187;NM_001199828;NM_005987;S73288 AAC26838;AAI05082;AAI05084;AAI11840;AAU88143;EAW53355;EAW53356;EAW53357;NP_001186757;NP_005978;P35321 Hs.46320 2108521;2125723;5493817 RH17911;SPRR1A_8641;UniSTS:495133 SPR-IA;SPRK 19 kDa pancornulin;OTTHUMP00000016121;cornifin A;cornifin-A;small proline-rich protein IA protein-coding HGNC:11259 01647 182265 VALIDATED 1354484 SPRR2E small proline-rich protein 2E This gene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G) appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater differences in protein structure. [provided by RefSeq, Feb 2014] 1 1 1 q21-q22 126136382 126137772 - 153065611 153067001 - 153093135 153094525 - 6480464 11279051;12477932;15232223;16344560;16710414;18643845;20360068;24657165;3133554;8325635;9722562;9888996 6704 P22531 ABBA01049430;AF333955;AL139417;AMYH02001898;BC058018;BE714447;BG185829;CH471121;DA761491;DA761769;M20030;NG_033987;NM_001024209 AAA36639;AAI48549;AAI53137;AAK70942;EAW53344;NP_001019380;P22531 Hs.568518 1855185;5038493;5096641 RH17673;RH71351;SHGC-35293 SPR-2E;SPR-II OTTHUMP00000016114;small proline-rich protein II protein-coding ENSG00000203785 HGNC:11265 REVIEWED 1350197 SPRR2F small proline-rich protein 2F INVOLVED IN keratinization (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q21-q22 126155383 126156760 - 153084612 153085989 - 153112136 153113513 - 6480464 11279051;15232223;16710414;18643845;23383108;8325635;8340374;9888996 6705 Q96RM1 ABBA01049430;AF333956;AL139417;AMYH02001898;CH471121;NM_001014450;X72500 AAI56789;AAK70943;CAA51165;EAW53343;NP_001014450;Q96RM1 Hs.490252;Hs.534032 1773646;5038493;5096641 RH17673;RH18104;RH71351 SPR-2F OTTHUMP00000016115 protein-coding ENSG00000244094 HGNC:11266 18699 PROVISIONAL 1347541 SPRR2G small proline-rich protein 2G INVOLVED IN keratinization (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 1 1 1 q21-q22 126192826 126194195 - 153122058 153123427 - 153149582 153150951 - 6480464 11279051;12477932;15232223;16710414;18643845;20360068;22118674;23404381;24457600;8325635;9888996 6706 Q9BYE4 AA456642;AA490630;ABBA01049431;AF333957;AL157405;AMYH02001901;BC130455;BC133041;CH471121;NM_001014291 AAI41501;AAI48781;AAK70944;EAW53341;NP_001014313;Q9BYE4 Hs.490253 1677026 RH92927 SPR-2G OTTHUMP00000016116 protein-coding ENSG00000159516 HGNC:11267 18500 VALIDATED 1345846 SPRR2C small proline-rich protein 2C (pseudogene) 1 1 1 q21-q22 126183362 126184737 - 153112594 153113969 - 153140118 153141493 - 1580863;6480464 11279051;12477932;15232223;16169070;22118674;3133554;8325635 6702 Q15515 ABBA01049431;AF333953;AL157405;AMYH02001900;BC120937;L05190;M21539;NR_003062 AAA66001 Hs.2421 1654112;2149741;2157246;2177414;5038493;5096641 G34871;RH17598;RH17673;RH17675;RH71351;SGC35405 small proline-rich protein 2C pseudo HGNC:11263 01651 182269 PROVISIONAL 1348618 SPRR2B small proline-rich protein 2B INVOLVED IN keratinization (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; carmustine; progesterone 1 1 1 q21-q22 126113489 126114856 - 153042717 153044084 - 153070241 153071608 - 1580863;6480464 11279051;14748073;15232223;16639001;16710414;18643845;20360068;21985131;22374195;3133554;8325635;9722562 6701 P35325 ABBA01049430;AF333952;AL139417;AL356867;AMYH02001898;CH471121;CS673554;CS690937;FB665690;GM706902;L05188;NM_001017418 AAA60576;AAI48720;AAK70940;CAP07544;CAP11512;CAR97127;CAT82408;EAW53345;NP_001017418;P35325 Hs.568239 5038493;5096641 RH17673;RH71351 SPR-2B OTTHUMP00000015752 protein-coding HGNC:11262 182268 PROVISIONAL 1352721 SPRR2A small proline-rich protein 2A INVOLVED IN keratinization (inferred); FOUND IN cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; arsenous acid 1 1 1 q21-q22 126099368 126100760 - 153028596 153029988 - 153056120 153057512 - 1580863;6480464 10737800;12477932;12624109;15232223;15489334;16639001;16710414;18155796;18643845;21988832;22731250;23728799;2388825;24123265;24457600;8325635;8816448;8999895;9826750 6700 P35326 ABBA01049430;AK311939;AL356867;AMYH02001898;BC096108;BC096109;BC096110;BC096111;BC128049;BE710686;CA433267;CH471121;NM_005988;X53064 AAH96108;AAH96109;AAH96110;AAH96111;AAI28050;BAG34880;CAA37239;EAW53346;EAW53347;NP_005979;P35326 Hs.355542 1654112;1773646;2110759;5038493;5096641 RH17673;RH17675;RH18104;RH71351;SPRR2A_8642 2-1;SPR-2A OTTHUMP00000016108 protein-coding ENSG00000241794 HGNC:11261 01649 182267 VALIDATED 1350265 SPRR4 small proline-rich protein 4 INVOLVED IN keratinization (inferred); peptide cross-linking (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; 17beta-estradiol (ortholog) 1 1 1 q21.3 126013919 126015859 + 152943128 152945069 + 152970652 152972593 + 1580863;6480464 11279051;11719550;12477932;15489334;16710414;18643845;21832049 163778 Q96PI1 ABBA01049429;AF335109;AL356867;AMYH02001898;BC069445;BC069549;BC112170;BC112172;CH471121;NM_173080 AAH69445;AAH69549;AAI12171;AAI12173;AAK96400;EAW53358;NP_775103;Q96PI1 Hs.433629 2219718;5492477;5493013 SPRR4__5305;UniSTS:481227;UniSTS:483735 MGC138375;MGC138377 OTTHUMP00000014401;small proline rich protein 4 protein-coding ENSG00000184148 HGNC:23173 18101 PROVISIONAL 1344812 SPRR2D small proline-rich protein 2D INVOLVED IN keratinization (inferred); FOUND IN cytoplasm; INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 1 1 1 q21-q22 126082979 126084372 - 153012201 153013594 - 153039725 153041118 - 6480464 11279051;11329013;12477932;12786819;15232223;16639001;16710414;18643845;20360068;21900206;3133554;8325635;9888996 6703 P22532 ABBA01049430;AF333954;AI383975;AI860616;AK291317;AL356867;AMYH02001898;BC093801;BC093803;BC120938;BG183546;CH471121;M21302;NM_006945 AAA36640;AAI20939;AAI41464;AAK70941;BAF84006;EAW53348;EAW53349;EAW53350;NP_008876;P22532 Hs.505327 2151120;5038493;5096641 D1S2418;RH17673;RH71351 SPR-2D;SPR-II OTTHUMP00000016109;OTTHUMP00000016111;small proline-rich protein II protein-coding ENSG00000163216 HGNC:11264 01650 VALIDATED 1605027 SPRTN SprT-like N-terminal domain ENCODES a protein that exhibits K63-linked polyubiquitin binding; ubiquitin binding; INVOLVED IN cellular response to DNA damage stimulus; positive regulation of protein ubiquitination; response to UV; ASSOCIATED WITH Melanoma (inferred); FOUND IN nuclear speck; nucleus; INTERACTS WITH atrazine; cyclosporin A; ethyl methanesulfonate 1 1 1 q42.12-q43 204738552 204754859 + 231473682 231506297 + 231337936 231370551 + 6480464;8554872 11076863;11230166;11256614;12477932;12975309;14702039;15231748;15489336;16381901;21139048;21693764;21890473;21906983;21963094;22053931;22505724;22681887;22894931;22902628;22987070;23000965;23042605;23042607;23254330;24250222;25261934 83932 B1AKT1;Q9H040 ABBA01033037;AK027317;AK027613;AL117352;AL512744;AMYH02002889;AY358611;BC015740;BC068478;BM480135;CH471098;NM_001010984;NM_001261462;NM_032018;XM_005273284;XM_005273285;XM_006711818 AAH15740;AAH68478;AAQ88974;BAB55037;BAB55232;CAC21670;CAL38277;CAL38338;CAL38506;EAW69956;EAW69957;EAW69958;NP_001010984;NP_001248391;NP_114407;Q9H040;XP_005273341;XP_005273342;XP_006711881 Hs.554892 1650031;1650033;1663464;1678483;1735974;2164788;2164790 A005X29;A006H08;D1S1980E;G20577;G20799;RH80352;WI-13849 C1orf124;DDDL1880;DKFZp547N043;DVC1;PRO4323;RP5-876B10.3;dJ876B10.3 DNA damage protein targeting VCP;DNA damage-targeting VCP (p97) adaptor;OTTHUMP00000036139;OTTHUMP00000036140;OTTHUMP00000036141;Spartan;SprT-like domain at the N terminus;protein with SprT-like domain at the N terminus;sprT-like domain-containing protein Spartan;zinc finger RAD18 domain-containing protein C1orf124 APPROVED protein-coding ENSG00000010072 HGNC:25356 13164 VALIDATED 5135340 SPRY4-IT1 SPRY4 intronic transcript 1 (non-protein coding) q31.3 21558391 100642175 AK024556 Hs.684549 1775505 D5S2564 ncrna HGNC:42394 1313286 SPRY4 sprouty homolog 4 (Drosophila) This gene encodes a member of a family of cysteine- and proline-rich proteins. The encoded protein is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. Activity of this protein impairs the formation of active GTP-RAS. Nucleotide variation in this gene has been associated with hypogonadotropic hypogonadism 17 with or without anosmia. Alternative splicing results in a multiple transcript variants. [provided by RefSeq, Jun 2014] 5 5 5 q31.3 137771260 137785910 - 141689992 141704620 - 142310427 142325055 - 1580863;6480464;6907045;8699517;7240710;8554872 11495895;12027893;12477932;12717443;14702039;14977631;15004239;16344560;16388505;16465403;16877379;16893902;17974561;18273061;18298822;19137008;19483681;19483682;19761767;20482313;20501643;20543847;21558391;22072546;23074222;23128233;23554919;23640991;23643382;23666239;23666240;23831057;23955631;24250222;24402575;24554542;24732356;7566098 81848 D6RB56;Q9C004 ABBA01026382;AC091825;AF227516;AF251060;AK096464;AK226147;AMYH02012362;AY538661;BC125095;BC125096;BP387943;DA183391;NG_034148;NM_001127496;NM_001293289;NM_001293290;NM_030964;T32786;XM_005268518;XM_005268519;XM_006714798 AAI25096;AAI25097;AAK00652;AAK34950;AAS46253;BAC04798;NP_001120968;NP_001280218;NP_001280219;NP_112226;Q9C004;XP_005268575;XP_005268576;XP_006714861 Hs.323308 1670915;1731301;1772146;1775505;2158916 AF005212;D5S1655E;D5S178;D5S2564;RH12495 HH17;spry-4 OTTHUMP00000160069;OTTHUMP00000222779;OTTHUMP00000222780;protein sprouty homolog 4 APPROVED protein-coding ENSG00000187678 HGNC:15533 10466 607984;615266 REVIEWED 1603522 SPRYD4 SPRY domain containing 4 FOUND IN nucleus; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; atrazine 12 12 12 q13.3 56515670 56518138 + 56862301 56864769 + 56468517 56470985 + 6480464 12477932;15489334;16344560;17852359;20877624;22286219;22916037;24144296 283377 B4DUC9;Q8WW59 ABBA01008424;AC097104;AF289571;AF451989;AK074733;AK291920;AK300594;AL832247;AMYH02026570;BC020844;BX647957;CH471054;CS072397;DB041397;KF459547;NM_207344 AAH20844;AAL55755;AAP97688;BAF84609;BAG62291;CAI93535;EAW96941;NP_997227;Q8WW59 Hs.128676 1676976;1687690;2114816;2185319 A006P42;RH70287;RH93044;RH93492 DKFZp686N0877 SPRY domain-containing protein 4 protein-coding HGNC:27468 11251 VALIDATED 1602855 SPRYD3 SPRY domain containing 3 INTERACTS WITH (-)-epigallocatechin 3-gallate; hydrogen peroxide; potassium chromate 12 12 12 q13.13 53105994 53121098 - 53458100 53473204 - 53064316 53079420 - 6480464 12477932;14702039;16344560;19615732;21139048;21890473;21906983;21963094;23000965;8619474;9110174 84926 B7Z1Y3;F8VWW7;H0YI85;Q8NCJ5 ABBA01008313;AC068888;AC073573;AF131774;AK027706;AK074566;AK074694;AK294092;AMYH02026511;BC019624;BC136312;CA427084;CH471054;DA389433;NM_032840 AAI36313;BAB55311;BAC11064;BAC11144;BAH11669;EAW96661;EAW96662;EAW96663;NP_116229;Q8NCJ5 Hs.343334 1747715;1855641;2136935;2137587;2157446;2159902 BCD2163;G64237;RH11261;RH44510;WI-21011;WIAF-1662 FLJ14800 OTTHUMP00000242821;OTTHUMP00000242823;SPRY domain-containing protein 3 protein-coding ENSG00000167778 HGNC:25920 08603 VALIDATED 1319561 SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) INVOLVED IN bud elongation involved in lung branching (inferred); epidermal growth factor receptor signaling pathway (inferred); establishment of mitotic spindle orientation (inferred); PARTICIPATES IN Jak-Stat signaling pathway; FOUND IN cytosol (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 4 4 4 q28.1 121700490 121707443 + 124317946 124324915 + 123396791 123403760 + 1580863;6480464;6907045 10887178;11752456;11983899;12402043;12477932;12593796;12869526;14533010;15004239;15146197;15489334;15950061;15962011;16344560;16877379;16893902;16954433;17207965;17974561;19164898;19322201;19864419;19915061;20054616;20068162;20237272;20628624;20696135;20813052;21048031;21078624;21826097;21988832;22880013;23074222;23088713;23146288;23333304;23441172;23469214;23527175;23554919;23824909;9458049 10252 D6REX7;D6RHD2;D6RIE6;O43609 ABBA01044750;AC026402;AF041037;AK026960;AL602431;AMYH02010027;AV692593;AY192146;AY590694;BC063856;CA447611;CH471056;CN302060;DA765300;DB250100;HI574038;HI574040;NM_001258038;NM_001258039;NM_005841;NM_199327;XM_005262686 AAC39566;AAH63856;AAP20102;AAT06102;ADQ31953;CBX47508;CBX47509;EAX05209;EAX05210;EAX05211;NP_001244967;NP_001244968;NP_005832;NP_955359;O43609;XP_005262743 Hs.744854 1683781;2106637;2168323;2181783 RH66329;RH98770;SHGC-59592;SPRY1__5306 hSPRY1;spry-1 OTTHUMP00000164086;OTTHUMP00000219789;OTTHUMP00000219790;OTTHUMP00000219791;OTTHUMP00000219792;protein sprouty homolog 1;sprouty, Drosophila, homolog of, 1 (antagonist of FGF signaling) protein-coding ENSG00000164056 HGNC:11269 06782 602465 VALIDATED 1315052 SPRYD7 SPRY domain containing 7 INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; ethyl methanesulfonate 13 13 13 q14 31541570 31565352 - 50486842 50510626 - 49912706 49936490 - 6480464 11306461;11771308;12010815;12477932;12665801;15057823;15489334;16196087;16341674;16344560;21139048;21890473;21906983;21963094;22053931;24250222;8619474;9110174 57213 Q5W111 ABBA01051027;ABBA01051028;ABBA01051029;AF052154;AF055016;AF334405;AK290576;AK308818;AK316576;AL136123;AMYH02028017;BC007076;BC022519;BM828692;CH471075;CS185647;DA388141;DN992366;KF455772;NM_001127482;NM_020456;NR_023351 AAC09363;AAH22519;AAK38371;BAF83265;BAG38165;CAJ42828;EAX08840;EAX08841;EAX08842;EAX08843;NP_001120954;NP_065189;Q5W111 Hs.44235 1648593;5022578;5024798;5037552 17663ft;D13S1168;D1S1423;D8S2279 C13orf1;CLLD6 CLL deletion region gene 6 protein;OTTHUMP00000018428;OTTHUMP00000018429;SPRY domain-containing protein 7;chronic lymphocytic leukemia deletion region gene 6 protein APPROVED protein-coding ENSG00000123178 HGNC:14297 08486 607866 VALIDATED 1604788 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; all-trans-retinoic acid 1 1 1 p36.22 8462669 8539361 + 9335202 9429591 + 9292882 9369532 + 6480464 12076535;12477932;14702039;15489334;15601820;15713673;16344560;16498413;16710414;17207965;18449195;19159283;19322201;19683501;20308539;20379614;20561531;20603330;21199876;21549100;21906983;22491018;22658931;22939624;23064961;23333304;23438482;23455924;8125298;8619474;9110174 80176 A2A276;Q96BD6 AB209559;ABBA01035551;AF131840;AF403026;AK026046;AK130055;AK225417;AL008734;AL358252;AMYH02000241;BC005852;BC015711;CH471130;DB242202;NM_025106 AAH05852;AAH15711;AAL57345;ADQ31895;BAB15335;BAC85287;BAD92796;EAW71617;EAW71618;NP_079382;Q96BD6 Hs.738680;Hs.8261 1338286;1733156;1769094;1856748;7186355 D1S1465;D1S3275;D1S503;SHGC-74186 SSB-1;SSB1 OTTHUMP00000001398;SPRY domain-containing SOCS box protein 1;SPRY domain-containing SOCS box protein SSB-1;novel SPRY domain containing protein protein-coding ENSG00000171621 HGNC:30628 18106 611657 VALIDATED 1603939 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH bisphenol A; cobalt dichloride; elemental selenium 16 16 16 p13.3 2038990 2044859 - 1826713 1832582 - 1776712 1782580 - 6480464;8554872 11157797;12076535;12477932;15489334;15713673;16341674;20532202;21145461;21199876;21890473;21988832;22939624 90864 H3BP12;Q6PJ21;Q96LS6 ABBA01030296;AC012180;AE006639;AF403028;AK057850;AK074190;AK302041;AMYH02031235;BC007588;BC024244;BC035065;BC041897;BC047441;BC065515;BI768095;BM836743;BQ930544;CH471112;NM_080861;XM_005255673 AAH07588;AAH24244;AAH41897;AAH47441;AAK61293;AAL57347;BAB71594;BAH13615;EAW85618;EAW85619;EAW85620;EAW85621;EAW85622;EAW85623;EAW85624;NP_543137;Q6PJ21;XP_005255730 Hs.592080 1662192;1697474;1698906 RH102238;RH103022;SHGC-57507 C16orf31;SSB3 SPRY domain-containing SOCS box protein 3;SPRY domain-containing SOCS box protein SSB-3 protein-coding ENSG00000162032 HGNC:30629 18107 611659 VALIDATED 1603193 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 This gene encodes encodes a suppressor of cytokine signaling (SOCS) family member, and it belongs to the subfamily of proteins containing a central SPRY (repeats in splA and RyR) domain and a C-terminal SOCS box. This gene is present in a gene-rich cluster on chromosome 12p13 in the vicinity of the CD4 antigen and triosephosphate isomerase genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 12 12 12 p13.31 8597386 8599808 - 6980099 6982521 - 6870935 6873361 - 6480464 12076535;12477932;15489334;15601820;15713673;17213182;19159283;19609018;20561531;20603330;21199876;21549100;21832049;21988832;23438482;23455924;8723724;9074930 84727 B7Z4W1;E5RIC2;Q99619 ABBA01017662;AF403027;AK297963;AK310353;AMYH02025956;BC002983;BC071933;BE619211;CH471116;DT220163;NG_013308;NM_001146316;NM_032641;U47924;XM_005253803 AAB51328;AAH02983;AAH71933;AAL57346;ADZ15862;BAH12697;EAW88719;EAW88720;NP_001139788;NP_116030;Q99619;XP_005253860 Hs.479856 2113994;2126821;2180598;5092778 D1S3365;G32324;STS-M10036;TPI1 FLJ17395;GRCC9;MGC2519;SSB-2;SSB2 OTTHUMP00000225007;OTTHUMP00000225008;SPRY domain-containing SOCS box protein 2;SPRY domain-containing SOCS box protein SSB-2;gene-rich cluster protein C9 APPROVED protein-coding ENSG00000111671 HGNC:29522 13610 611658 REVIEWED 1603370 SPSB4 splA/ryanodine receptor domain and SOCS box containing 4 INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH arsenite(3-); valproic acid; 17alpha-ethynylestradiol (ortholog) 3 3 3 q23 139194129 139290840 + 140770743 140867453 + 141051901 141148611 + 6480464 12076535;12477932;14702039;15489334;15601820;15713673;19159283;20379614;20561531;20603330;21199876;23041239;24262325;25015289 92369 H0Y8T2;Q96A44 ABBA01059052;AC022215;AC108727;AF086345;AF403029;AK056147;AK056367;AMYH02007802;BC008324;BC051354;CH471052;NM_080862 AAH08324;AAL57348;ADZ16085;BAB71165;EAW79010;NP_543138;Q96A44 Hs.655112 1658644;1660457;1698678;2181815;5022578 D1S1423;D3S4137;RH102898;SHGC-17816;SHGC-77274 SSB-4;SSB4 OTTHUMP00000217810;SPRY domain-containing SOCS box protein 4;SPRY domain-containing SOCS box protein SSB-4 protein-coding ENSG00000175093 HGNC:30630 18108 611660 PROVISIONAL 1354373 SPRR3 small proline-rich protein 3 ENCODES a protein that exhibits structural molecule activity (inferred); INVOLVED IN keratinization (inferred); peptide cross-linking (inferred); wound healing (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; 8-bromo-3',5'-cyclic AMP 1 1 1 q21-q22 126045013 126047122 + 152974223 152976332 + 153001747 153003856 + 1580863;6480464;8554872 10510474;10737800;11230159;11279051;11443109;12036303;12477932;12786819;14748073;14761935;15221970;15232223;15489334;16344560;16710414;17935133;18643845;18832573;19056867;19211270;20379613;20599699;21490620;21777580;22076481;23820115;7829876;8018055;8325635;8809402;8999895;9724607;9889002 6707 B1AN48;Q9UBC9 ABBA01049430;AF077374;AJ243667;AK311823;AL356867;AMYH02001898;AY118269;BC017802;BF826427;BM955458;CH471121;DA451130;DA763011;DQ017955;EF553525;NM_001097589;NM_005416 AAD11938;AAH17802;AAM74559;AAY26394;ABQ66270;BAG34765;CAB65098;EAW53353;EAW53354;NP_001091058;NP_005407;Q9UBC9 Hs.139322 2219716 SPRR3__5304 22 kDa pancornulin;OTTHUMP00000015757;OTTHUMP00000015758;cornifin beta;esophagin protein-coding ENSG00000163209 HGNC:11268 01652 182271 VALIDATED 1322949 SPRY2 sprouty homolog 2 (Drosophila) This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. [provided by RefSeq, Jul 2008] 13 13 13 q31.1 61811860 61816835 - 80910111 80915086 - 80335976 80340968 - 1580863;6480464;6484113;6907045 10887178;10940627;11053437;11076863;11230166;11698404;11983899;12234920;12391162;12402043;12414790;12477932;12593795;12593796;12717443;12815057;15004239;15031289;15057823;15122328;15201220;15313890;15351707;15489334;15489336;15564375;15653567;15735753;15950061;15962011;16000370;16126775;16189514;16246327;16327884;16371366;16381901;16479008;16489004;16877379;16888801;16893902;16954433;17255109;17320394;17388787;17496316;17510316;17689925;17693063;17974561;18048363;18070883;18214995;18273061;18427547;18485666;18622748;18678649;18683950;19008219;19022413;19147787;19322201;19364817;19458088;19545245;19690147;19864419;20023658;20123980;20124286;20237272;20461437;20543868;20572854;20624167;20634891;20638779;20661223;20678191;20862305;20877636;20934684;20956544;21099344;21111454;21134562;21239886;21278789;21288888;21364986;21543492;21596750;21706003;21762810;21900206;21909357;21909839;22006925;22158968;22383529;22558309;22581228;22649008;22761998;22863734;23074222;23088713;23239100;23434594;23455924;23573284;23624922;23649631;23650389;23688375;23718855;23831057;23868981;24094449;24216759;24292711;24554542;24722188;9458049 10253 O43597 ABBA01021702;AF039843;AL354668;AL713749;AMYH02028352;BC004205;BC015745;BX648582;CH471093;NM_005842;XM_005266217;XM_006719752;XM_006719753 AAC04258;AAH04205;AAH15745;CAD28524;CAL37872;CAL38475;EAW80601;NP_005833;O43597;XP_005266274;XP_006719815;XP_006719816 Hs.18676 1711166;1712250;1797184;2140480 G54033;RH44769;SHGC-85326;SPRY2 MGC23039;hSPRY2;spry-2 OTTHUMP00000018543;protein sprouty homolog 2;sprouty 2 APPROVED protein-coding ENSG00000136158 HGNC:11270 03916 602466 REVIEWED 1349769 SPRY3 sprouty homolog 3 (Drosophila) INVOLVED IN regulation of signal transduction (inferred); PARTICIPATES IN Jak-Stat signaling pathway; FOUND IN cytoplasm (inferred); membrane (inferred) X X;Y X;Y q28 and Yq12 155151125 155165835 + 59100457 59115123 + 155612565 155782455 + 1580863;6907045 10655549;10887178;12391162;12477932;14702039;15489334;15950061;16500999;16877379;17207965;17974561;9458049 10251 O43610;Q6ZUP3 ABBA01028631;AF041038;AJ271735;AK094610;AK125483;AK289543;AMYH02040901;BC069609;BC074972;BC074973;BX323057;CH471247;KC877980;KC877984;KC877988;KC877989;KF495814;KF510179;NM_005840;XM_005274642;XM_005274643;XM_005274800 AAC39567;AAH69609;AAH74972;AAH74973;ADQ32942;BAC86177;BAF82232;CAB96768;EAW55876;NP_005831;O43610;XP_005274699;XP_005274700;XP_005274857 Hs.381912 2106639;5106126;5492617;5492729 SPRY3;SPRY3__5307;UniSTS:481800;UniSTS:482152 HSPRY3;spry-3 OTTHUMP00000024256;antagonist of FGF signaling;protein sprouty homolog 3 protein-coding ENSG00000168939 HGNC:11271 03917 300531 VALIDATED 731487 SPTBN2 spectrin, beta, non-erythrocytic 2 Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009] 11 11 11 q13 63779325 63815933 - 66449967 66496716 - 66683428 66729241 - 1580863;6480464;7240710;8554872;8699517 10852813;11357136;11461920;12119179;12421765;12477932;14702039;15032605;15148151;16429157;17081983;17940722;18003973;19098307;20131405;20301317;20371805;20936779;21139048;21412925;21827906;21853274;21890473;21926972;22457146;22586326;22843192;22939629;23000965;23233669;23236289;25057192;7874171;9205841;9675416;9704016;9826670 6712 E9PJZ2;O15020 AB008567;ABBA01024065;ABBA01024066;AF026487;AF026488;AF079569;AK021479;AMYH02024979;AP001157;BC122522;BC131819;BC139788;CH471076;DQ126686;NG_016150;NM_006946;XM_005274192;XM_005274193;XM_006718669;XM_006718670;XM_006718671 AAC79502;AAC79503;AAC79504;AAC80006;AAI39789;AAI72438;AAZ38823;BAA32700;EAW74559;EAW74560;EAW74561;NP_008877;O15020;XP_005274249;XP_005274250;XP_006718732;XP_006718733;XP_006718734 Hs.26915;Hs.586709;Hs.679104 1793648;5113459 D11S703;PMC24343P1 GTRAP41;SCA5;SCAR14 OTTHUMP00000235546;OTTHUMP00000235547;beta-III spectrin;glutamate transporter EAAT4-associated protein 41;spectrin beta III sigma 2;spectrin beta chain, brain 2;spectrin beta chain, non-erythrocytic 2;spectrin, non-erythroid beta chain 2;spinocerebellar ataxia 5 protein APPROVED protein-coding ENSG00000173898 HGNC:11276 05404 600224;604985;615386 REVIEWED 1322297 SPTBN5 spectrin, beta, non-erythrocytic 5 ENCODES a protein that exhibits dynactin binding; dynein intermediate chain binding; kinesin binding; INVOLVED IN Golgi organization; lysosomal transport; protein homooligomerization; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; photoreceptor connecting cilium; INTERACTS WITH 1,3-dinitrobenzene (ortholog); 17alpha-ethynylestradiol (ortholog); 2,2',5,5'-tetrachlorobiphenyl (ortholog) 15 15 15 q21 18907986 18953916 - 42140344 42186275 - 41848146 41894077 - 1580863;6480464;8554872 10764729;12119179;18048348;19851296;20043139;20198315;20379614;23704327;8493579 51332 Q9NRC6 AA599654;ABBA01038385;ABBA01038386;AC020659;AF233523;AMYH02030279;BF515053;CH471125;NM_016642;XM_005254438 AAF65317;EAW92523;NP_057726;Q9NRC6;XP_005254495 Hs.709819 1679948;1686134;1693564;1736504;1853410 D15S711E;RH79820;RH91785;SHGC-58472;WI-13757 BSPECV HUBSPECV;HUSPECV;beta V spectrin;beta-V spectrin;spectrin beta chain, brain 4;spectrin beta chain, non-erythrocytic 5;spectrin, non-erythroid beta chain 4 protein-coding ENSG00000137877 HGNC:15680 10438 605916 VALIDATED 1349727 SPTB spectrin, beta, erythrocytic This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] 14 14 14 q23-q24.2 45270736 45347605 - 65213001 65346604 - 64746283 64879883 - 1599118;1580863;6480464;7240710;8699517;8554872 2056132 10037687;10477754;10751147;10867799;10950304;11418000;11427698;11703334;12038451;12119179;12354383;12477932;12655374;12665801;12743109;12820899;1391962;14593108;14702039;15065869;15146197;15161933;15492010;15929114;16060676;1634521;16476728;17520478;17977835;18029348;18202182;1840591;19141864;19168783;19538529;1975598;1976574;19910543;20164196;20379614;20459687;2070088;20724481;21139048;21412925;2141335;21738695;21890473;2195026;2209094;22164239;22360420;2243099;22939629;23000965;23061666;23251661;2346784;24193021;24324551;3390609;3478706;3580577;379653;6215583;6472478;6743699;7104494;7673158;7883966;7962054;8018926;8102379;8159688;8226774;8341682;8493579;8663089;8675627;8844207;8889548;9005995;9163587;9414314;9450796;9890967 6710 H0YJE6;P11277;Q59FP5;Q86TX9 AB209415;ABBA01018368;ABBA01018369;ABBA01018370;AF013172;AF013173;AF013174;AF013177;AF013178;AF013181;AF013184;AF013187;AF465439;AK094815;AK126627;AL121774;AL135745;AMYH02029362;BC010434;BC136284;BC136285;BM681142;BX248270;CH471061;CN370674;J05500;M18054;M37884;M37885;M57948;NG_016202;NM_000347;NM_001024858;X59510;X59511;XM_005268023;XM_006720241 AAA60571;AAA60572;AAA60578;AAA60579;AAA63259;AAC02786;AAC02787;AAC02788;AAC02789;AAC02790;AAC02791;AAC02792;AAC02793;AAI36285;AAI36286;AAL73492;BAD92652;CAA42097;CAA42098;CAD62598;EAW80875;EAW80876;EAW80877;EAW80878;EAW80879;EAW80880;EAW80881;EAW80882;NP_000338;NP_001020029;P11277;XP_005268080;XP_006720304 Hs.417303 1666269;1677356;1690442;1739411;1744173;2125131;2134465;2139178;2169597;2180971;5037552;5124200 D14S1213;D14S1306;D14S817E;D14S830;D8S2279;GDB:434768;RH36893;RH44911;RH68567;RH91150;RH91388;u00828 EL3;HS2;HSpTB1;SPH2 OTTHUMP00000246401;OTTHUMP00000246404;beta-I spectrin;membrane cytoskeletal protein;spectrin beta chain, erythrocyte;spectrin beta chain, erythrocytic APPROVED protein-coding ENSG00000070182 HGNC:11274 01686 182870 REVIEWED 1313077 SPTA1 spectrin, alpha, erythrocytic 1 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008] 1 1 1 q21 131651547 131727219 - 158580496 158656506 - 158610706 158686716 - 1599111;1580863;6480464;7240710;8554872;8699517 3597773 10187839;10215350;10551855;10852813;10950304;11165260;11856323;12049649;12105217;12119179;12196550;12432217;12571280;12820899;1339473;1391962;14625392;15161933;15203218;15310273;1541680;15456760;15492010;15795915;16051665;16150946;16171554;16336193;1634521;1638030;16407147;16461343;16551696;1672285;1679439;16841024;1689726;17414207;17885671;17905835;17977835;18218854;1845156;18548008;1878597;18815189;19008453;19380743;19593814;19747366;19807924;19862010;1991513;20379614;2056132;20585040;2070088;20807499;20858683;21080425;21412925;21890473;22164239;22197999;22727745;23200054;23222517;23373410;2346784;23533167;2384601;23935956;23974198;24003435;24077844;2568861;2568862;2794061;2807277;2936753;2971657;3000887;3027087;3268039;3458204;3580577;3600811;379653;6215583;6472478;6654895;6654896;7104494;7772539;7883966;7929303;8018926;8040317;8094577;8102379;8193371;8226774;8364215;8434258;8486776;8493579;8626479;8844207;8997639;9005995;9006945;9075575;9163587;9192783;9414314;9573679;9593709;9889281 6708 O60686;P02549;V9GY79 ABBA01016625;AF060556;AL353894;AMYH02002004;AY138967;BU665064;CD616351;CH471121;M11049;M13233;M29994;M61826;M61877;NG_011474;NM_003126 AAA53103;AAA60569;AAA60575;AAA60577;AAA60994;AAC15757;AAI56497;AAI72497;EAW52816;EAW52817;EAW52818;EAW52819;NP_003117;P02549 Hs.119825 1662375;1698128;1741615;1742093;1742351;1849622;2106641;2140161;2149895;2165637 D1S3249;G15944;GDB:181583;GDB:191077;GDB:196442;RH102597;RH65132;RH68459;RH69635;SPTA1__5309 EL2;HPP;HS3;SPH3;SPTA OTTHUMP00000021115;OTTHUMP00000021116;alpha-I spectrin;elliptocytosis 2;erythroid alpha-spectrin;spectrin alpha chain, erythrocyte;spectrin alpha chain, erythrocytic 1;spectrin, alpha, erythrocytic 1 (elliptocytosis 2) APPROVED protein-coding ENSG00000163554 HGNC:11272 01685 130600;182860;266140;270970 REVIEWED 6480955 SPTLC1P1 serine palmitoyltransferase, long chain base subunit 1 pseudogene 1 10 10 31649884 31650144 + 31360955 31361215 + 100874511 ABBA01033400;AL117340;AMYH02022573;NG_032341 pseudo HGNC:39668 INFERRED 1351608 SPTBN1 spectrin, beta, non-erythrocytic 1 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p21 54523740 54739107 + 54683454 54898583 + 54456317 54671446 + 1580863;6480464;6484113;8554872 10571082;10576550;10806113;11069925;11274145;11535133;11665863;12119179;12202484;12477932;12522145;12543979;12820899;12901833;14702039;15116094;15231748;15262991;1527002;15302935;15310273;15324660;15342556;15345747;15688033;16083285;16159877;16169070;16247473;17000644;17043677;17074766;17081983;17082780;17088250;17546056;17620337;17620599;17716929;17905835;18187620;18262053;18445777;18487259;18548008;18614564;18704924;19056867;19079262;19167051;19380743;19596686;19738201;19801982;20200978;20379614;20554715;20588308;20739274;20886430;20936779;21139048;21145461;21182205;21252943;21319273;21412925;21628590;21890473;21906983;21963094;22108332;22174317;22268729;22504420;22505724;22586326;22685421;22771809;22798246;22863883;22939629;22952844;23000965;23077236;23084401;23184937;23246001;23398456;23443559;23460728;23862649;24332808;24430505;2474519;24816145;25027693;8406479;8493579;8688828;8889548;8991093;9164454;9537418;9798950;9817844;9989581 6711 B2ZZ89;F8W6C1;Q01082 AB209551;AB209748;AB371586;ABBA01075254;ABBA01075255;ABBA01075256;ABBA01075257;AC092839;AC093110;AF218848;AF327441;AJ005694;AJ238723;AK023762;AK025071;AK093946;AK295570;AL117605;AMYH02003843;BC009640;BC032061;BC137282;BC137283;BM679686;BP218428;BP312037;CH471053;CR980403;EU794662;HI573966;HI573968;JQ599728;NG_029817;NM_003128;NM_178313;S65762;XM_005264517;XM_005264518;XM_006712087 AAB28324;AAI37283;AAI37284;AAL56651;AAO15362;AAX93104;AAY24229;ACJ13716;AFX60968;BAD92788;BAD92985;BAG48315;BAG58470;CAA06678;CAB91088;CBX47472;CBX47473;EAX00137;EAX00138;EAX00139;EAX00140;EAX00141;EAX00142;EAX00143;EAX00144;EAX00145;EAX00146;EAX00147;NP_003119;NP_842565;Q01082;XP_005264574;XP_005264575;XP_006712150 Hs.503178;Hs.705692 1340766;1676079;1713637;1721055;1734832;1739105;1768587;1798218;1858130;2124848;2128259;2129192;2144272;2156696;2160658;2174621;2176230;5109591 Cda10d06;D2S1576E;D2S1586E;D2S2153;D2S2825;D7S2262;G31089;G59509;RH11563;RH120699;RH48838;RH69548;RH80117;SHGC-31423;SHGC-35870;SPTBN1__1999;WI-12526;WI-16857 ELF;HEL102;SPTB2;betaSpII OTTHUMP00000165176;OTTHUMP00000165178;beta-G spectrin;beta-II spectrin;beta-fodrin;beta-spectrin 2;beta-spectrin II;beta-spectrin non-erythrocytic 1;embryonic liver beta-fodrin;epididymis luminal protein 102;fodrin beta chain;spectrin beta chain, brain 1;spectrin beta chain, non-erythrocytic 1;spectrin, non-erythroid beta chain 1 APPROVED protein-coding ENSG00000115306 HGNC:11275 01683 182790 REVIEWED 1315336 SPTLC1 serine palmitoyltransferase, long chain base subunit 1 This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013] 9 9 9 q22.2 65229735 65313999 - 94793416 94877756 - 92031134 92115474 - 1580863;6480464;6907045;7240710;8554872;8699517 10713067;10722674;10722759;11242106;11242114;11479835;12445191;12477932;14152213;15037712;15164053;15467453;16210380;16344560;17110338;17194770;17314511;17331073;17353931;17982236;18018475;18484747;19132419;19362163;19416851;19592499;19651702;19923297;20097765;20182505;20301564;20562859;20634891;21139048;21618344;21857022;21890473;21906983;21963094;21987572;22268729;22302274;22505724;22688191;22797925;23000965;23025307;23629659;23798571;23956138;24247255;24250222;24673574;24816145;9363775 10558 O15269;Q6NUL7 AB209757;ABBA01018581;ABBA01018582;AF147304;AF286717;AK098344;AK291546;AK299153;AK309775;AL354751;AL391219;AMYH02021216;AMYH02021217;AMYH02021218;BC007085;BC068537;CH471089;DA305642;EC564300;NG_007950;NM_001281303;NM_006415;NM_178324;XR_242563;Y08685 AAH07085;AAH68537;AAK29328;BAD92994;BAF84235;BAG61202;CAA69941;EAW62804;EAW62805;EAW62806;NP_001268232;NP_006406;NP_847894;O15269 Hs.90458 1767755;1767757;1774679;2147455;5022322;5022450;5022651;5024685;5037552;5109281;5112017 A001U11;D10S275;D11S2560;D11S2921;D1S1425;D8S2279;D9S1996;G17347;G19655;G44365;RH26813 HSAN;HSAN1;HSN1;LBC1;LCB 1;LCB1;MGC14645;SPT 1;SPT1;SPTI;hLCB1 OTTHUMP00000022810;OTTHUMP00000022811;long chain base biosynthesis protein 1;serine C-palmitoyltransferase;serine palmitoyltransferase 1;serine-palmitoyl-CoA transferase 1 APPROVED protein-coding ENSG00000090054 HGNC:11277 05754 162400;605712 REVIEWED 6480938 SPTLC1P2 serine palmitoyltransferase, long chain base subunit 1 pseudogene 2 6 6 23856791 23857046 - 23856563 23856818 - 100874498 ABBA01022314;AL139093;AMYH02013312;NG_032342 pseudo HGNC:39669 INFERRED 6480937 SPTLC1P3 serine palmitoyltransferase, long chain base subunit 1 pseudogene 3 6 6 63937388 63937648 + 63227483 63227743 + 100874499 ABBA01023966;AL450346;AMYH02013810;NG_032343 pseudo HGNC:39670 INFERRED 6480949 SPTLC1P5 serine palmitoyltransferase, long chain base subunit 1 pseudogene 5 13 13 78233548 78233808 + 77659413 77659673 + 100874512 ABBA01021665;AL450447;AMYH02028321;NG_032345 pseudo HGNC:39672 INFERRED 6480936 SPTLC1P4 serine palmitoyltransferase, long chain base subunit 1 pseudogene 4 1 1 152050428 152050689 + 152077952 152078213 + 100874500 ABBA01049409;AL591893;AMYH02001891;NG_032344 pseudo HGNC:39671 INFERRED 733239 SPTAN1 spectrin, alpha, non-erythrocytic 1 Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] 9 9 9 q34.11 101965660 102046740 + 131314837 131395944 + 128552558 128633665 + 1580863;6480464;7240710;8554872;8699517 10402491;10521589;10551855;10571082;10576550;10579058;10625438;10862698;10874042;11069925;11274145;11401546;11441066;11509555;11971983;12044158;12049649;12119179;12202484;12446661;12477932;12571280;12630566;12820899;12893251;14593108;14623284;14702039;15164053;15302935;15328537;15342556;15489334;15656790;15673434;15948206;16106752;16169070;16192640;16263121;16889989;16944923;17043677;17081983;17088250;17620012;17620599;17643375;18029348;18187620;18550849;18723680;18978357;1902666;19034380;1905928;19102630;19167051;19217883;19380743;19454697;19805454;19913121;20011051;20379614;20381070;20408766;20493457;20518497;20628086;20706999;20811636;20936779;21139048;21145461;21182205;21319273;2141335;21575865;21890473;21900206;21906983;22163289;22174317;22258530;22586326;22656320;22863883;22939629;22952844;23000965;2307671;23077236;23084401;23125841;23184937;23246001;23398456;23443559;23536563;23602568;23862649;24144296;24193021;24250222;24255178;24332808;24456667;24583282;24657165;24816145;25027693;2939097;2970468;2971657;3027087;3038643;3121319;3336352;3691949;492324;7607240;7642559;8163551;8275706;8493579;8663089;8993318;9209005;9593709;9624143;9642272;9670010;9811849;9890967 6709 A6NG51;Q13813 AB191262;AB209860;ABBA01043888;ABBA01043889;ABBA01043890;ABBA01043891;AF148808;AK026484;AK126576;AK294753;AK300386;AK307676;AK309836;AK310696;AL110273;AL356481;AMYH02021718;BC034956;BC051801;BC053521;BP200529;CH471090;DC359079;J05243;M18627;M19725;M24773;NG_027748;NM_001130438;NM_001195532;NM_003127;U26396;U83867;X86901;XM_006717245;XM_006717246;XM_006717247;XM_006717248;XM_006717249;XM_006717250;XM_006717251;XM_006717252;XM_006717253;XM_006717254 AAA51702;AAA51790;AAA52468;AAA59904;AAB41498;AAB60364;AAF26672;AAH53521;BAD52438;BAD93097;BAG57892;BAG62120;CAA60503;CAB53710;EAW87805;EAW87806;EAW87807;EAW87808;EAW87809;EAW87810;EAW87811;EAW87812;EAW87813;NP_001123910;NP_001182461;NP_003118;Q13813;XP_006717308;XP_006717309;XP_006717310;XP_006717311;XP_006717312;XP_006717313;XP_006717314;XP_006717315;XP_006717316;XP_006717317 Hs.372331 1673358;1679069;1698966;1730129;1777124;2118741;2128860;2130968;2170485;5015861 A006J25;D10S16;D9S1671E;D9S183E;G17287;G28277;RH103052;RH12836;RH36410;SHGC-8025 (ALPHA)II-SPECTRIN;EIEE5;FLJ17738;FLJ44613;NEAS;SPTA2 OTTHUMP00000022283;OTTHUMP00000022284;alpha-II spectrin;alpha-fodrin;alpha-spectrin 2;fodrin alpha chain;non-erythrocytic spectrin alpha;spectrin alpha chain, brain;spectrin alpha chain, non-erythrocytic 1;spectrin, alpha, non-erythrocytic 1 (alpha-fodrin);spectrin, non-erythroid alpha chain;spectrin, non-erythroid alpha subunit APPROVED protein-coding ENSG00000197694 HGNC:11273 01684 182810;613477 REVIEWED 1350858 SPTSSA serine palmitoyltransferase, small subunit A Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010] 14 14 14 q13.1 14767183 14796506 - 34902144 34931468 - 34432938 34462262 - 6480464 12477932;14702039;15489334;16169070;17207965;19322201;19416851;21103663;23510452 171546 Q969W0 ABBA01061454;ABBA01061455;ABBA01061456;AI765163;AK001993;AK315409;AL080066;AL356806;AMYH02028986;BC016805;BC016808;BC021701;BC068480;CH471078;NM_138288 AAH16805;AAH16808;AAH21701;AAH68480;ADQ32400;BAG37801;EAW65923;EAW65924;NP_612145;Q969W0 Hs.740577 1698856;2115278;2177673 G36287;RH102993;WI-16004 C14orf147;MGC24447;SSSPTA OTTHUMP00000178807;serine palmitoyltransferase small subunit A;small subunit of serine palmitoyltransferase A APPROVED protein-coding ENSG00000165389 HGNC:20361 16610 613540 VALIDATED 1354205 SPTLC2 serine palmitoyltransferase, long chain base subunit 2 This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011] 14 14 14 q24.3 58011851 58121636 - 77972340 78083110 - 77505997 77616767 - 1580863;6480464;6907045;7240710;8699517;8554872 10722674;10737800;12207934;12445191;12477932;12508121;15489334;16147992;17081983;17194770;17331073;19416851;20877624;20920666;21139048;21890473;21906983;23025307;23658386;24175284;7506601;8889549;8921873;9363775;9628581 9517 H0YJ96;H0YJV2;O15270 AB011098;ABBA01030647;AF111168;AMYH02029574;AMYH02029575;AMYH02029576;BC005123;BG024616;BM992457;BQ338973;CH471061;NG_028282;NM_004863;U15555;W24363;Y08686 AAC50871;AAD09621;AAH05123;ABM84223;ABM87785;BAA25452;CAA69942;EAW81297;EAW81298;EAW81299;NP_004854;O15270 Hs.435661 1334910;1648504;1667623;1672979;1783024;2116493;2122956;2123458;2136284;2136335;2137348;2156758;2156907;2168174;2175225;2183707;5020740;5021228;5024413;5037552 A002Y12;D14S59;D14S843;D14S929;D8S2279;G35447;G35451;G35466;G35529;G35534;G36021;GDB:312794;L17809;L17877;RH11203;RH17530;RH70479;SHGC-132736;SHGC-30760;SHGC-35537 HSN1C;KIAA0526;LCB 2;LCB2;LCB2A;NSAN1C;SPT 2;SPT2;hLCB2a OTTHUMP00000246380;OTTHUMP00000246382;long chain base biosynthesis protein 2;long chain base biosynthesis protein 2a;serine palmitoyltransferase 2;serine palmitoyltransferase, subunit II;serine-palmitoyl-CoA transferase 2 APPROVED protein-coding ENSG00000100596 HGNC:11278 05755 605713;613640 REVIEWED 1605564 SPTSSB serine palmitoyltransferase, small subunit B Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010] 3 3 3 q26.1 159484918 159512206 - 161062580 161090662 - 161344792 161372083 - 6480464 12477932;15489334;15777716;19416851 165679 Q6ZWB5;Q8NFR3 ABBA01058788;ABBA01058789;AC112491;AF458592;AK123348;AK312144;AMYH02008031;AMYH02008032;BC037817;BC065208;BC071875;BC107756;BC126236;BC130565;BU950276;BU950567;CH471052;NM_001040100 AAH65208;AAH71875;AAI07757;AAI26237;AAM49720;BAC85589;BAG35080;EAW78615;EAW78616;EAW78617;NP_001035189;Q8NFR3 Hs.369104 1784628;2113730;2218188;5493461;5493837 AB050536;ADMP__4258;SHGC-112362;UniSTS:486515;UniSTS:495251 ADMP;C3orf57;MGC104229;SSSPTB OTTHUMP00000214011;OTTHUMP00000214012;androgen down regulated in mouse prostate;likely ortholog of androgen down regulated gene expressed in mouse prostate;serine palmitoyltransferase small subunit B;small subunit of serine palmitoyltransferase B APPROVED protein-coding HGNC:24045 16476 610412 VALIDATED 6766625 SPTY2D1-AS1 SPTY2D1 antisense RNA 1 11 11 11 18756226 18760317 + 18610334 18631802 + 18599804 18610255 + 14702039 100506540 ABBA01061051;AC112694;AK097654;AMYH02024400;AMYH02024401;AMYH02024402;NR_038360 Hs.585529 APPROVED ncrna ENSG00000247595 HGNC:44122 VALIDATED 1603901 SPTY2D1 SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I 11 11 11 p15.1 18762827 18790934 - 18627948 18656020 - 18606401 18634473 - 6480464 12477932;14702039;16196087;20686565;21139048;22939629;23378026;24097068;24250222;24816145 144108 Q68D10 ABBA01061051;AC112694;AF086471;AF452716;AK096694;AK096760;AK304078;AL834393;AMYH02024402;BC036844;BC056261;BX538046;BX641102;BX647798;BX648114;BX648478;CH471064;CR749626;NM_194285 AAH36844;AAH56261;AAP13351;BAC04858;BAG64985;CAD39055;CAD97985;CAE46047;CAH10772;CAH18420;EAW68374;NP_919261;Q68D10 Hs.738650;Hs.745113 1644014;1675784;1676492;1856873;2183982;5015619;5015961;5016851;5037552 D11S2378;D11S3114;D15S1477;D8S2279;RH16432;RH80031;RH94100;STS-H94880;STS-R07743 DKFZp686F1942;DKFZp686I068;FLJ39441 OTTHUMP00000236671;SPT2 domain-containing protein 1;protein SPT2 homolog protein-coding ENSG00000179119 HGNC:26818 13436 VALIDATED 1606768 SPZ1 spermatogenic leucine zipper 1 This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-induced tumor treatments. [provided by RefSeq, Oct 2011] 5 5 5 q14.1 75517111 75518982 + 79615790 79617661 + 80319971 80321842 + 6480464 11165476;12477932;12778315;14702039;15226296;15372022;15489334;15829580;15899793;18029348;20211142;21832049;23455924 84654 D6RFL8;Q9BXG8 ABBA01062033;AC026410;AF333098;AI138399;AK098575;AK314007;AMYH02011662;BC033798;BG723698;BU853967;CH471084;NG_030332;NM_032567 AAH33798;AAK17995;ABM83049;ABM86243;BAC05340;BAG36718;EAW95847;EAW95848;NP_115956;Q9BXG8 Hs.519403 1679890 RH92182 FLJ25709;NYD-TSP1;PPP1R148 OTTHUMP00000222233;OTTHUMP00000222234;spermatogenic leucine zipper protein 1;spermatogenic zip 1;testis-specific protein 1;testis-specific protein NYD-TSP1 APPROVED protein-coding ENSG00000164299 HGNC:30721 15440 REVIEWED 1606773 SPX spexin hormone ENCODES a protein that exhibits neuropeptide hormone activity; type 2 galanin receptor binding; type 3 galanin receptor binding; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; long-chain fatty acid import (ortholog); negative regulation of appetite (ortholog); FOUND IN extracellular space; INTERACTS WITH all-trans-retinoic acid; copper atom; copper(0) 12 12 12 p12.1 26834644 26839598 + 21679256 21684210 + 21526322 21531276 + 6480464 12477932;14702039;15489334;16303743;17284679;18029348;19132080;19193193;21832049;22038051;24517231;24550067 80763 F5GXE5;Q9BT56 ABBA01067971;AC006559;AK027273;AK075342;AK311147;AK311217;AMYH02026168;BC004336;CH471094;CS051133;NM_030572 AAH04336;BAG51298;BAG52117;CAI72062;EAW96444;EAW96445;NP_085049;Q9BT56 Hs.130692 1701510 RH104388 C12orf39;MGC10946;NPQ OTTHUMP00000240156;neuropeptide Q;spexin APPROVED protein-coding HGNC:28139 14405 PROVISIONAL 1353757 SQRDL sulfide quinone reductase-like (yeast) The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012] 15 15 15 q15 22818429 22874655 + 45923346 45983492 + 45631148 45691294 + 1580863;6480464 10224084;10810093;12477932;15489334;16344560;17110338;17314511;18029348;18494801;18729074;20398623;20877624;20966902;21410200;21565611;22118674;22304920;22797925;22852582;22939629;23251661;23438482;23874603;24816145;8125298 58472 H3BMS6;H3BNP9;H3BR48;H3BT21;H3BUD7;H3BV36;Q9Y6N5 ABBA01039173;ABBA01039174;ABBA01039175;AC090527;AF042284;AF118085;AF151802;AI240325;AK130140;AK222463;AK313111;AMYH02030360;AMYH02030361;AMYH02030362;BC016836;CH471082;DA821218;NM_001271213;NM_021199 AAD34039;AAD41160;AAF22029;AAH16836;ABM82372;ABM85551;BAD96183;BAG35933;EAW77319;EAW77321;EAW77324;EAW77326;EAW77328;NP_001258142;NP_067022;Q9Y6N5 Hs.511251;Hs.743355 1708778;1736484;2179187;5015378 D15S695E;RH1639;SHGC-77875;WI-20121 CGI-44;PRO1975 OTTHUMP00000162198;sulfide dehydrogenase like;sulfide:quinone oxidoreductase, mitochondrial APPROVED protein-coding ENSG00000137767 HGNC:20390 18102 REVIEWED 736675 SQLE squalene epoxidase Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq, Jul 2008] 8 8 8 q24.1 122199057 122223195 + 126010720 126034525 + 124998478 125022283 + 1581398;1581399;1580863;1300048;2316857;6480464 14684588;16876788 10666321;11076863;11230166;12083769;12477932;14702039;15489336;16381901;16806233;17316888;18660489;18728668;19913121;20628086;21139048;21890473;21906983;21988832;23000965;24449766;24840124;8125298;8626488;9286711 6713 E5RJH9;E7EVQ6;H0YBN7;Q14534;Q5HYI4;Q9UNR6 ABBA01037907;ABBA01037908;AC009908;AF098865;AK055357;AK225085;AK295302;AK301792;AK313384;AMYH02018726;BC017033;BG772453;BX647400;BX647605;CH471060;D78129;D78130;FJ695197;NM_003129 AAD10823;AAH17033;ABM85583;BAA11209;BAA22372;BAG36182;BAG58282;BAG63246;CAI46076;CAL38441;EAW92079;NP_003120;Q14534 Hs.71465 1739987;1772245;2122348;2124980;2139236;2162259 A004A38;D8S1067;D8S1682;RH15879;RH48094;RH48389 FLJ30795;SE OTTHUMP00000228145;OTTHUMP00000228146;squalene monooxygenase APPROVED protein-coding ENSG00000104549 HGNC:11279 11802 602019 REVIEWED 1312269 SPTBN4 spectrin, beta, non-erythrocytic 4 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.13 37772697 37881418 + 40973050 41082365 + 40467219 40576459 + 1580863;6480464;8554872 10997877;11086001;11294830;11807096;12119179;12421765;12506198;12812986;14702039;16344560;17081983;19851296;20198315;20379614;21890473;21900206;23000965;24654937;8493579 57731 C9JY79;M0QZQ3;M0R1V6;Q9H254 AB046862;ABBA01040759;ABBA01040760;ABBA01040761;ABBA01040762;ABBA01040763;ABBA01040764;ABBA01040765;ABBA01040766;ABBA01040767;ABBA01040768;ABBA01040769;ABBA01040770;ABBA01040771;ABBA01040772;ABBA01040773;ABBA01040774;ABBA01040775;AC020929;AF082075;AF311855;AF311856;AF324063;AF324064;AI962525;AK054915;AK308547;AK309418;AL133093;AMYH02036115;AMYH02036116;AMYH02036117;AY004226;AY004227;CH471126;DA514440;KF511269;NG_029905;NM_020971;NM_025213;XM_006723306 AAF93171;AAF93173;AAG38874;AAG42473;AAG42474;AAQ14859;AAQ14860;BAB13468;CAB61407;EAW56973;EAW56974;EAW56975;EAW56976;EAW56977;EAW56978;NP_066022;NP_079489;Q9H254;XP_006723369 Hs.32706 1649879;1789270;1798220;2118192;2122176;2140288;5017436 A009D36;G67801;RH16416;RH46045;SHGC-33106;SPTBN4_2491;Spnb4 KIAA1642;QV;SPNB4;SPTBN3 beta-IV spectrin;betaIV spectrin;spectrin beta chain, brain 3;spectrin beta chain, non-erythrocytic 4;spectrin, non-erythroid beta chain 3 APPROVED protein-coding ENSG00000160460 HGNC:14896 09372 606214 REVIEWED 1351339 SPTLC3 serine palmitoyltransferase, long chain base subunit 3 The SPTLC3 gene encodes an isoform of the third subunit of serine palmitoyltransferase (SPT; EC 2.3.1.50), which catalyzes the rate-limiting step of the de novo synthesis of sphingolipids (Hornemann et al., 2006 [PubMed 17023427]). SPT contains 2 main subunits: the common SPTLC1 subunit (MIM 605712) and either SPTLC2 (MIM 605713) or its isoform SPTLC2L (SPTLC3), depending on the tissue in which biosynthesis occurs (Hornemann et al., 2006 [PubMed 17023427]). There are also 2 highly related isoforms of a third subunit, SSSPTA (MIM 613540) and SSSPTB (MIM 610412), that confer acyl-CoA preference of the SPT enzyme and are essential for maximal enzyme activity (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010] 20 20 20 p12.1 13059733 13217481 + 12989627 13147411 + 13008979 13166764 + 1580863;6480464;6907045;8554872 11780052;12477932;14702039;15489334;16303743;17023427;17331073;19416851;19648650;19798445;19913121;20037589;20379614;20628086;20920666;21368711;22359512;23192594;24097068 55304 B1AKS2;B1AKS3;H0Y733;Q8N2H1;Q9NUV7 ABBA01053957;ABBA01053958;ABBA01053959;AK001974;AK075271;AK300184;AL050320;AL109983;AL133331;AL445589;AL844429;AMYH02036717;AMYH02036718;BC005205;BC020656;BC038248;BC150644;CF994231;CH471133;CX870585;KF456829;KF456832;KF511287;NM_018327;XR_244218 AAH05205;AAH20656;AAI50645;BAA92012;BAC11509;BAG61962;CAI13234;CAI13236;CAM16427;EAX10322;EAX10323;NP_060797;Q9NUV7 Hs.425023 1645113;1650005;1667541;1669442;1673891;1729491;1729495;1774505;2116204;2117009;2129510;2130492;2152038;2155015;2172674;5024169;5093716 A006P19;A009V27;D20S131E;D20S56;D20S58;D2S2887;G18103;G27414;G32882;RH48472;RH68830;SHGC-33870;SHGC-36445;WI-17312;Z94369;Z94384;Z94711 C20orf38;FLJ11112;FLJ90790;LCB 3;LCB2B;LCB3;SPT 3;SPT3;SPTLC2L;dJ718P11;dJ718P11.1;hLCB2b OTTHUMP00000162419;long chain base biosynthesis protein 2b;long chain base biosynthesis protein 3;serine palmitoyltransferase 3;serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2);serine-palmitoyl-CoA transferase 3 APPROVED protein-coding HGNC:16253 12765 611120 VALIDATED 1353576 SRA1 steroid receptor RNA activator 1 Both long non-coding and protein-coding RNAs are transcribed from this gene, and they represent alternatively spliced transcript variants. This gene was initially defined as a non-coding RNA, which is a coactivator for several nuclear receptors (NRs) and is associated with breast cancer. It has now been found that this gene is involved in the regulation of many NR and non-NR activities, including metabolism, adipogenesis and chromatin organization. The long non-coding RNA transcripts interact with a variety of proteins, including the protein encoded by this gene. The encoded protein acts as a transcriptional repressor by binding to the non-coding RNA. [provided by RefSeq, Mar 2012] 5 5 5 q31.3 136006404 136014428 - 139929652 139937678 - 140550067 140558093 - 5128512;6480464;7240710;8554872 16394250 10199399;10485452;11103781;11250900;11331609;11438648;11818499;12118039;12163482;12444263;12477932;12565891;12909012;12943696;14517287;14702039;14715875;15147866;15180993;15327771;15351741;15489334;15498874;15607539;16152589;16169070;16344560;16540468;16595694;16607388;16773180;16848684;17702747;18676680;18827892;18950845;19064572;19064678;19188450;19483093;19625176;19692168;19740422;20079837;20153324;20219889;20398657;20677014;20855289;20966046;21771633;21790861;21807064;21906983;22362738;22939629;22998747;23579816;23749764;23907597;24486609;24486611 10011 Q9HD15;R4GMW4 ABBA01026426;AC011399;AF092038;AF293024;AF293025;AF293026;AF318361;AI140060;AK024640;AK054960;AMYH02012339;BC040043;BC067895;BQ052761;BU553214;CH471062;CX165918;DA311407;DQ286291;NG_031847;NM_001035235;NM_001253764;NR_045586;NR_045587 AAG02114;AAG02115;AAG02116;AAH40043;AAI52789;AAI56761;AAL55868;BAG51445;EAW62051;EAW62052;NP_001030312;NP_001240693;Q9HD15 Hs.653135 1718619;1740445;1740459;1760301;1773644;1792936;2107839;2121066;2149648;2153349;2158575 A007D18;APBB3_9088;D5S2251E;D5S2258E;PMC170950P4;RH122995;RH16024;RH45891;SGC30750;SHGC-132909;SHGC-56860 MGC87674;SRA;SRAP;STRAA1;pp7684 OTTHUMP00000224323;steriod receptor RNA activator 1;steriod receptor RNA activator protein;steroid receptor RNA activator 1 (complexes with NCOA1);steroid receptor RNA activator protein;steroid receptor coactivator APPROVED protein-coding ENSG00000213523 HGNC:11281 18716 114290;603819 REVIEWED 1602705 SRBD1 S1 RNA binding domain 1 ENCODES a protein that exhibits hydrolase activity, acting on ester bonds (inferred); RNA binding (inferred); INVOLVED IN nucleobase-containing compound metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; benzo[a]pyrene 2 2 2 p21 45454104 45676639 - 45615819 45838434 - 45388680 45611295 - 6480464;8554872 12477932;14702039;16344560;19240061;19322201;19471022;19615732;20020773;20363506;20379614;21139048;21282530;22174317;22939629;24040232;24163370;24332808;24816145;9847074 55133 B7Z6X7;Q8N5C6 ABBA01075126;ABBA01075127;ABBA01075128;ABBA01075129;AC008179;AC012072;AK001241;AK055896;AK056536;AK301122;AK316222;AMYH02003718;AMYH02003719;AMYH02003720;AMYH02003721;AMYH02003722;BC032538;CH471053;DA235970;NM_018079;XM_005264398;XR_426987 AAH32538;AAK52078;AAY14821;ADZ15470;BAA91577;BAG51740;BAH13413;BAH14593;EAX00260;EAX00261;NP_060549;Q8N5C6;XP_005264455 Hs.14229 1335457;1336318;1645520;1674125;1717855;1718631;1727019;1756257;2117499;2134243;2148599;2183047;5022578;5109583 A004I23;D1S1423;D2S1535E;D2S2280;D2S2291;D2S2889;G29203;G62907;RH122759;RH123001;RH69329;SHGC-11647;SHGC-143158;STS-T95475 FLJ10379 H_NH0576F01.1;OTTHUMP00000159028;S1 RNA-binding domain-containing protein 1;WUGSC:H_NH0576F01.1 protein-coding ENSG00000068784 HGNC:25521 07669 VALIDATED 1606024 SRCAP Snf2-related CREBBP activator protein This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012] 16 16 16 p11.2 29546060 29587086 - 30709571 30751450 + 30699141 30740129 + 6480464;8699517;7240710;9495926;8554872 21502417 10347196;10702287;11013263;11522779;11581372;12477932;12954226;14500758;14702039;14966270;15647280;16024792;16169070;16344560;16634648;17101442;17573780;17617668;17643375;18029348;19234533;20299344;20432434;20467438;20841388;20946988;21139048;21673954;21697133;21785598;21890473;21906983;22265015;22467210;22479200;22939629;22965468;23165645;23193612;24163370;8889548;9205841 10847 C9J4U4;Q6ZRS2 AB621816;ABBA01042054;ABBA01042055;AC093249;AC106886;AF143946;AK023808;AK025382;AK126463;AK128030;AMYH02031828;AMYH02031829;AU140541;BC025284;BC063578;BM677852;CH471192;DA109400;NG_032135;NM_006662 AAD39760;AAH63578;AAI72428;BAC86558;BAC87237;BAG51225;BAK64152;EAW52213;EAW52214;NP_006653;Q6ZRS2 Hs.620916 1677250;1684437;1686919;1693754;1793762;2191513;2218058;5124440 MARC_24290-24291:1030105993:1;PMC277710P1;RH18347;RH64893;RH65286;RH92880;SHGC-58827;SRCAP_3778 DOMO1;EAF1;FLHS;FLJ44499;KIAA0309;SWR1 OTTHUMP00000163226;OTTHUMP00000208671;Snf2-related CBP activator protein;Swi2/Snf2-related ATPase homolog, domino homolog 1;domino homolog 1;domino homolog 2;helicase SRCAP APPROVED protein-coding ENSG00000080603 HGNC:16974 18103 136140;611421 REVIEWED 1606779 SRCIN1 SRC kinase signaling inhibitor 1 ENCODES a protein that exhibits protein kinase binding; INVOLVED IN negative regulation of protein tyrosine kinase activity; positive regulation of protein tyrosine kinase activity; regulation of cell migration; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN actin cytoskeleton; cytoplasm; axon (ortholog); INTERACTS WITH paracetamol; silicon dioxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q12 33347180 33423105 - 36686259 36762183 - 38530024 38605930 - 6480464;8554872 10625663;11214970;12477932;14657239;14702039;15489334;15822905;17525734;18475297;18662323;19146815;20453886;23383002;24456795 80725 Q9C0H9 AB051471;AB127405;ABBA01031914;ABBA01031915;ABBA01031916;ABBA01031917;ABBA01031918;ABBA01031919;AC006449;AC115090;AC129916;AC244153;AK096097;AK126665;AK126676;AK295027;AMYH02033356;BC019717;BC029278;BC033233;BX648057;CH471152;KC877653;NM_025248;XM_006722117;XM_006722118;XM_006722119;XM_006722120;XM_006722121;XM_006722122;XM_006722123;XM_006725356;XM_006725357;XM_006725358;XM_006725359;XM_006725360;XM_006725361;XM_006725362 AAH33233;AAI56057;AAI72455;BAB21775;BAC86634;BAD03968;BAG54357;BAG58083;EAW60518;NP_079524;Q9C0H9;XP_006722180;XP_006722181;XP_006722182;XP_006722183;XP_006722184;XP_006722185;XP_006722186;XP_006725419;XP_006725420;XP_006725421;XP_006725422;XP_006725423;XP_006725424;XP_006725425 Hs.448872 1729235;5015619;5126581 D11S3114;G62210;RH44305 KIAA1684;P140;SNIP P130Cas-associated protein;SNAP-25-interacting protein;SNAP25-interacting protein;p140Cap APPROVED protein-coding ENSG00000277363 HGNC:29506 11589 610786 VALIDATED 736446 SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008] 5 5 5 p15 6660560 6696748 + 6633500 6669675 + 6633367 6669562 + 1580863;1300048;2302521;2302558;2302559;2302522;2302523;4891877;4891894;4891511;2325883;4891505;4891966;6480464;6907045;8554872 12374776;15136785;15212687;16818707;17707058;17720776;17884440;18379994;18821018;20098742;20303481 10931946;11678334;11903314;11948017;12477932;12670724;12738739;1345916;14671189;14739525;14997014;15004407;15489334;15538746;15543614;15583024;15792368;15862960;15941927;16100771;16155734;16849416;1686016;17066438;17218734;17986282;18008328;18215136;18258185;18422030;18483391;18633104;18636124;19064572;19246976;19322201;19383266;19574343;19598235;19846565;19886072;19913121;20056642;20086173;20200332;20214802;20519274;20628086;20634197;20672519;20734064;20800085;21323680;21447938;21530059;21676395;21715084;21795608;21947678;22194926;22273344;22509838;22589738;22952603;23183084;2339109;23499746;24244276;24250222;24277450;4400474;6833469;7688765;7796940;8389478;8619474;8876709;9110174;9620288;9685215 6715 B7Z4D8;D6RDL6;D6RG03;P18405 ABBA01016148;ABBA01016149;AC010366;AF052126;AF073301;AF073302;AF073303;AF073304;AF113128;AK297208;AK297511;AK313070;AK315996;AMYH02010806;AY341029;BC006373;BC007033;BC008673;BT006834;CH471102;M32313;M68886;NM_001047;XR_427663 AAA35490;AAA60995;AAC26862;AAC26863;AAC26864;AAC26865;AAC28620;AAF14869;AAH07033;AAH08673;AAP35480;AAP88935;ABM82463;ABM85652;BAG35898;BAH12524;BAH12598;BAH14367;EAX08103;EAX08104;NP_001038;P18405 Hs.552 1659453;1662795;1683032;2117078;2176631 D5S2373;RH41119;RH78527;SGC30358;WI-18821 S5AR 1 3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1;3-oxo-5-alpha-steroid 4-dehydrogenase 1;5-alpha reductase;OTTHUMP00000115519;SR type 1;steroid 5 alpha-reductase 1;steroid 5-alpha-reductase 1;steroid 5-alpha-reductase type I APPROVED protein-coding ENSG00000145545 HGNC:11284 01699 184753 VALIDATED 1353477 SRD5A1P1 steroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene) X X X q27.1 138894509 138896663 + 138528978 138531132 + 139446819 139448973 + 1686016 6719 ABBA01066029;AL008713;AMYH02040611;BX470592;M68887;NR_028597 Hs.730315 2176631;5094458 G54809;WI-18821 DKFZp686G24110;SRD5AP1 APPROVED pseudo HGNC:11286 PROVISIONAL 1606233 SRD5A3 steroid 5 alpha-reductase 3 The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011] 4 4 4 q12 53714242 53739692 + 56212388 56239267 + 55346221 55373100 + 6480464;6907045;7240710;8554872;8699517 12477932;14702039;15583024;17207965;17986282;20301507;20637498;20700148;20852264;21704348;21988832;24433453 79644 H0Y9P9;Q9H8P0 ABBA01003411;ABBA01003412;AC064824;AC069200;AK023414;AMYH02009240;BC002480;CH471057;CR457312;CX763068;DB532427;NG_028230;NM_024592;XM_005265766;XM_005265767 AAH02480;AAY40904;ADQ32316;BAB14568;CAG33593;EAX05465;NP_078868;Q9H8P0;XP_005265823;XP_005265824 Hs.39311 1755807;1774288;2178984;2187538;5016596 GDB:631802;SHGC-142651;SHGC-59633;SHGC-67770;SHGC-68214 CDG1P;CDG1Q;FLJ13352;S5AR 3;SR type 3;SRD5A2L;SRD5A2L1 3-oxo-5-alpha-steroid 4-dehydrogenase 3;KRIZI;OTTHUMP00000158927;polyprenol reductase;probable polyprenol reductase;steroid 5 alpha-reductase 2-like;steroid 5-alpha-reductase 2-like;steroid 5-alpha-reductase 3 APPROVED protein-coding ENSG00000128039 HGNC:25812 07825 611715;612379;612713 REVIEWED 6766521 SRD5A3-AS1 SRD5A3 antisense RNA 1 4 4 4 53734596 53753573 - 56232768 56251747 - 55366601 55385580 - 12477932 100506462 ABBA01003411;ABBA01003412;AC064824;AC069200;AMYH02009240;AMYH02009241;BC034006;BC047403;BQ574699;NR_037969 Hs.718667 1755807;1774288;2178984;2187538;5016596;5022578 D1S1423;GDB:631802;SHGC-142651;SHGC-59633;SHGC-67770;SHGC-68214 APPROVED ncrna ENSG00000249700 HGNC:44138 VALIDATED 737503 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008] 2 2 2 p23 31590884 31647296 - 31749656 31806040 - 31524586 31580971 - 1600067;1600059;1331525;1580863;1300048;2302558;2302560;4891929;4891877;2325883;6480464;6907045;7240710;8554872;8699517 10501358;10514539;12749121;12949937;15118671;15212687;18379994;18821018 10342882;10718838;10913941;10999800;11164181;11303586;11355945;11381197;11440959;11547131;11571725;11588134;11751447;11845321;11847524;11869378;11903314;11927504;12042668;12100746;12111704;12115497;12137870;12164325;12210487;12370109;12446983;12477932;12670724;12712437;12738739;12746845;12771801;12788885;12815006;12843198;12869400;12971967;1406794;14594182;14652280;14693733;14739525;1505484;15061984;15136785;15201804;1522235;15241822;15266301;15326487;15337247;15389785;15477877;15528927;15538746;15583024;15711606;15733480;15770495;16018939;16029630;16039774;16098368;16155734;16174723;16181229;16325991;16487406;16608396;16716118;16736621;16818707;16821341;16849416;16859836;17108148;17136762;17220347;17328668;17376218;17448593;17507624;17588204;17609295;17669147;17785571;17823934;18000232;18086758;18097518;18163429;18258185;18268111;18306354;18314109;18350250;18391525;18391540;18431743;18469342;18483391;18495332;18501301;18503826;18566991;18717241;18722876;18767927;18780294;18949357;18976975;19064572;19125422;19215786;19246976;19267353;19383266;19443907;1944596;19492581;19505920;19574343;19598235;19760631;19846565;19913121;19914946;19926884;19956849;19962986;20019388;20056642;20059664;20132346;20173016;20179965;20200332;20214802;20215396;20381444;20511729;20628086;20634197;20734064;20736251;20800085;20855474;21037542;21147889;21177315;21218640;21402750;21511288;21530059;21540559;21557268;21627373;21631525;21676395;21714467;21715084;22362597;22453073;22486281;22509838;22707254;22735779;23044880;23112260;23277398;23329752;23499746;23505265;23664981;23729601;23867117;23953348;24012728;24182552;24244276;24277450;24412121;7554313;7688765;8626825;8768837;9066886;9208814;9467575;9745434;9843052 6716 P31213 AB047857;ABBA01074857;ABBA01074858;AEKP01018982;AK307235;AK316597;AL133247;AMYH02003527;AY884245;BC112252;BC113641;CH471053;EF560740;KC876863;KC876889;KF456642;KF456647;KF456649;KF456653;L03843;M74047;NG_008365;NM_000348 AAA60586;AAI12253;AAI13642;AAW56942;ABQ59050;ACE87820;ACT64378;ADR82875;BAB40419;BAG38184;EAX00478;NP_000339;P31213 Hs.458345 1742459;1768348;1796878;2137947;2184544 G10662;GDB:197081;SRD5A2_256;STS-M74047;WI-9246 5 alpha-SR2;MGC138457;S5AR 2;SR type 2 3-oxo-5 alpha-steroid 4-dehydrogenase 2;3-oxo-5-alpha-steroid 4-dehydrogenase 2;steroid 5-alpha-reductase 2;type II 5-alpha reductase APPROVED protein-coding HGNC:11285 07390 264600;607306 REVIEWED 7382732 SRD5A3P1 steroid 5 alpha-reductase 3 pseudogene 1 11 11 11 q12.1 57028410 57029362 + 59665667 59666607 + 59898194 59899134 + 390203 ABBA01021509;AMYH02024868;AP002347;NG_030280 pseudo HGNC:49243 INFERRED 736484 SQSTM1 sequestosome 1 This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009] 5 5 5 q35 174858545 174890234 + 179233388 179265078 + 179806388 179838078 + 1599121;6480464;6484113;7240710;8554872;8699517 11992264 10022904;10356400;10362795;10708586;10747026;10776788;11244088;11447312;11473345;11563677;11755531;11786419;11852044;11981755;12034707;12242277;12374763;12431995;12471037;12477932;12700667;12727313;12787561;12813044;12857745;12857950;12869526;12887891;14584883;14676191;14692700;14702039;14702098;15125799;15143057;15146436;15158159;15164150;15176995;15207768;15340068;15489334;15493999;15592455;15647816;15721744;15761153;15765181;15802564;15840729;15870274;15911346;15953362;16011831;16079148;16083285;16129434;16159877;16169070;16189514;16196087;16252010;16286508;16335966;16344560;16405664;16565220;16574459;16630834;16691492;16751776;16793543;16820172;16861740;16874300;16964243;16997282;17052185;17065558;17081983;17120186;17187080;17203973;17229007;17237936;17314511;17550899;17580304;17685470;17898222;17931355;17932931;18083104;18083707;18157088;18174161;18296712;18379439;18379713;18442140;18457658;18543015;18584184;18624398;18653543;18776740;18781797;18984666;18992722;19004011;19010391;19013454;19016598;19020788;19049332;19056867;19067022;19071211;19074260;19197142;19201866;19229298;19250911;19257822;19282458;19285159;19398892;19427028;19481605;19557423;19589897;19615732;19780870;19812211;19816510;19822672;19850743;19850933;19903815;19931284;20010802;20018885;20061786;20061800;20098416;20103647;20168092;20200946;20204693;20230821;20357094;20360068;20378532;20379614;20417604;20421418;20452972;20495340;20499339;20562859;20573959;20600853;20604804;20639865;20639871;20706999;20711182;20808283;20814791;20837465;20890124;20971078;20974803;20979579;21045561;21062285;21073987;21079414;21118398;21139048;21149568;21160040;21173155;21187718;21195346;21220506;21325881;21371883;21412052;21460636;21482715;21517082;21536669;21544590;21555518;21606687;21617041;21628417;21628531;21646350;21691068;21726808;21735147;21771882;21876553;21890473;21900206;21903097;21906983;21923101;21931693;21935636;21949121;21959292;21963094;21981924;21987572;21988832;22017874;22053931;22084127;22098537;22118674;22178386;22190034;22190037;22286270;22296116;22320446;22322858;22411133;22434781;22491873;22505724;22525272;22565157;22674379;22714671;22728060;22792322;22797925;22835604;22841931;22863883;22939629;22941224;22952826;22963397;22972638;22992334;23000965;23017601;23023376;23117207;23239879;23242280;23266528;23274085;23300799;23303844;23314748;23333919;23345396;23398456;23402259;23417734;23434281;23437331;23455922;23459205;23503661;23564079;23637164;23649778;23658060;23681079;23686137;23752596;23787295;23795962;23824909;23911927;23989536;24011591;24023838;24042580;24065390;24086340;24086678;24100292;24121507;24122957;24128730;24138988;24162737;24220190;24270048;24270664;24322982;24332042;24413169;24416372;24440703;24486447;24582747;24616100;24618016;24619419;24642144;24654937;24664425;24667411;24769000;24769734;24778252;24879152;24927592;24928389;24998849;25002027;25007327;25015289;25026213;25027693;25040165;25042851;8551575;8618896;8650207;8702753;8910285;9184228;9252186;9566925;9762895 8878 C9J6J8;C9JRJ8;D6RBF1;E3W990;E7EMC7;E9PFW8;Q13501 ABBA01010042;ABBA01010043;ABBA01010044;AC008393;AF060494;AI333228;AK025146;AK094484;AK098077;AK226167;AK293509;AK304877;AK312451;AMYH02012892;AMYH02012893;AMYH02012894;BC000951;BC001874;BC003139;BC005857;BC017222;BC019111;BC050631;BI549805;BM800056;BU625974;CH471165;DA541885;DC398116;DQ581944;NG_011342;NM_001142298;NM_001142299;NM_003900;U41806;U46751 AAA93299;AAC52070;AAC64516;AAH00951;AAH01874;AAH03139;AAH17222;AAH19111;ABM83804;ABW03518;BAG35358;BAG53577;BAG56993;BAG65614;EAW53786;EAW53787;NP_001135770;NP_001135771;NP_003891;Q13501 Hs.724025 1657893;1677190;1685453;1740409;1740517;1740867;1776934;1856023;2108523;2120717;2154130;2162845;5020274;5113613 A002O27;A008T21;D11S4452;D5S2223E;D5S2306E;L18441;RH18060;RH70719;RH91868;RH98565;SHGC-182;SHGC-33017;SQSTM1_8870;STS-Z40707 A170;OSIL;PDB3;ZIP3;p60;p62;p62B EBI3-associated protein of 60 kDa;EBI3-associated protein p60;EBIAP;OTTHUMP00000198118;OTTHUMP00000198119;OTTHUMP00000223467;oxidative stress induced like;phosphotyrosine independent ligand for the Lck SH2 domain p62;phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa;sequestosome-1;ubiquitin-binding protein p62 APPROVED protein-coding ENSG00000161011 HGNC:11280 03319 601530;602080 REVIEWED 1603357 SRFBP1 serum response factor binding protein 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; hydrogen peroxide 5 5 5 q23.1 117252114 117318751 + 121297656 121364295 + 121961961 122028600 + 6480464 11329013;12477932;15492011;16647043;17207965;18230186;19751705;21890473;23000965;24250222;8083237 153443 Q8NEF9 ABBA01068961;ABBA01068962;AC010255;AC093521;AK058015;AMYH02012088;AMYH02012089;AY611630;BC017102;BC031222;BG193119;CH471086;NM_152546 AAH17102;AAH31222;AAU25829;ADQ32366;BAB71631;EAW48899;EAW48900;NP_689759;Q8NEF9 Hs.107622 1850378;5093246 A009K09;G32606 BUD22;FLJ25286;P49;Rlb1;STRAP;p49/STRAP BUD22 homolog;OTTHUMP00000222981;SRF-dependent transcription regulation associated protein;SRF-dependent transcription regulation-associated protein;serum response factor-binding protein 1 protein-coding ENSG00000151304 HGNC:26333 08685 610479 VALIDATED 1352789 SREK1 splicing regulatory glutamine/lysine-rich protein 1 This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 5 5 5 q12.3 62438135 62474766 + 65440046 65479444 + 66144218 66183616 + 1580863;6480464 10757789;11991645;12043562;12176931;12183448;12403470;12477932;14559993;14702039;15456940;15489334;17353931;18029348;19309015;19322201;19951526;20195357;20400856;21145461;22939629;23602568;24778252 140890 E5RFV3;E5RJ76;E5RK30;H0YC47;Q8WXA9 AB209694;ABBA01048318;AC008772;AC025442;AF459094;AK091758;AK125893;AK308287;AL049309;AL703981;AL832888;AMYH02011434;AMYH02011435;AMYH02011436;AW963850;BC017000;BC047322;BC067770;BC112343;CD706234;CH471137;NM_001077199;NM_001270492;NM_001270493;NM_139168;XM_005248439;XM_005248440;XM_005248441;XM_005248442;XM_006714535 AAH47322;AAH67770;AAI12344;AAL67778;BAD92931;BAG52411;CAH10414;EAW51328;EAW51329;EAW51330;EAW51331;NP_001070667;NP_001257421;NP_001257422;NP_631907;Q8WXA9;XP_005248496;XP_005248497;XP_005248498;XP_005248499;XP_006714598 Hs.49367 1665867;2121267;2173578;2217968;5020948;5109281 D1S1425;G35510;RH48547;SFRS12_3712;SHGC-33131;SHGC-36384 DKFZp564B176;MGC133045;SFRS12;SRrp508;SRrp86 OTTHUMP00000123465;OTTHUMP00000123466;OTTHUMP00000228004;serine-arginine-rich splicing regulatory protein 508;serine-arginine-rich-splicing regulatory protein 86;serine/arginine-rich-splicing regulatory protein 86;splicing factor, arginine/serine-rich 12;splicing regulatory protein 508 APPROVED protein-coding ENSG00000153914 HGNC:17882 18043 609268 REVIEWED 730972 SREBF2 sterol regulatory element binding transcription factor 2 This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 22 q13 26035175 26108609 + 42229083 42303312 + 41833079 41907308 + 1581412;1581413;1581414;1581415;1581416;1581417;1581418;1581419;1581420;1625197;1580863;1625196;2308815;2308818;2308821;2308813;2308812;2308825;1581819;2308843;2307223;2317203;6480464;8663431;8663430 10600799;11950857;12801623;15026365;15062879;15547298;15644403;15944339;16046298;16082694;16316337;16741953;16814791;16936198;17524234;18095312;18682608;19124072;19147991;19933148;22713868;23263379;9786926 10397761;10591208;10619424;10627507;10896675;10976766;11149418;11283257;11485982;12202038;12242332;12446768;12477932;12615929;12842885;12855700;12941800;14500290;14645851;14702039;14765107;14988395;15085196;15211801;15358760;15388640;15461802;15489334;15527767;15721010;15798184;16014965;16141315;16158080;16169070;16227610;16303770;16335799;16466730;16697011;16763159;16806233;16901265;17008555;17142457;17198935;17383658;17604677;17702963;17921436;18032389;18072016;18195716;18272927;18321953;18403372;18579430;18660489;18936756;18954446;18959802;19041766;19056482;19098903;19116028;19155782;19231010;19263511;19323650;19460711;19497963;19550366;19582494;19706601;19740467;19906111;19913121;19948975;20031551;20111910;20138239;20144195;20167577;20211142;20379614;20450493;20460578;20466882;20566875;20628086;20732877;20734064;20926756;20936779;20965718;20980003;21139048;21613400;21693764;21757058;21906983;21944868;21963094;21987572;21988832;22153697;22182810;22288532;22425645;22429355;22505724;22573382;22573671;22662110;22666465;23044239;23102786;23158139;23454642;23825667;23838163;24217618;24321096;24382701;24478315;24868893;7759101;7903453;8402897;8605870;8626610;8643593;8900111;8918891;9070916;9139737;9242699;9508001;9927745;9990022 6721 G3V0I8;H0Y7E5;Q12772;Q8NCY3 AA035591;ABBA01055654;ABBA01055655;AK299914;AL021453;AL834221;AMYH02038449;BC051385;BC051799;BC056158;CH471095;CT841522;D86746;NM_004599;NR_103834;U02031;XM_006724310;Z99716 AAA50746;AAH51385;AAH51799;AAH56158;BAC57590;BAG61752;CAD38902;CAJ86452;CAK54615;CAK54914;EAW60469;EAW60470;EAW60471;NP_004590;Q12772;XP_006724373 Hs.443258 1341801;1655676;1656479;1679141;1686977;1698230;1745011;2114477;2131436;2137256;2146440;2162086;7185417 1094;AL008656;D22S1157;D22S1563;GDB:592857;RH102651;RH80373;SHGC-12896;SHGC-30242;SHGC-58081;WI-12706;WI-20973 SREBP-2;SREBP2;bHLHd2 OTTHUMP00000199514;class D basic helix-loop-helix protein 2;sterol regulatory element-binding protein 2;sterol regulatory element-binding transcription factor 2 APPROVED protein-coding ENSG00000198911 HGNC:11290 02726 600481 REVIEWED 69473 SREBF1 sterol regulatory element binding transcription factor 1 This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18654135 18680982 - 17714663 17740331 - 17811349 17837017 - 1580863;2308802;2308806;2308809;2308811;2308804;1581418;2308808;1625196;2308807;1581819;2308805;2308821;2308815;1581420;2317203;6480464;6484113;6907045;8554872 10600799;15944339;16046298;16741953;16936198;17241878;17524234;17961514;18613221;18692268;19017816;19048273;19357831;19423844;19933148 10224053;10235267;10585876;10619424;10627507;10915800;10949029;11257259;11334418;11485982;11713202;11834832;11916923;11929849;11997338;12021179;12145339;12177166;12202038;12213084;12242332;12436350;12477932;12531699;12615929;12640139;12657626;12730330;12752570;14615581;14633850;14654692;14701856;14702039;14722127;14742839;14744869;14747281;14748724;14988272;15026365;15085196;15102555;15123650;15161980;15277400;15286454;15317819;15340088;15358760;15388640;15550381;15677507;15769984;15794649;15798184;15809359;15833942;16005884;16007182;16054087;16055439;16141315;16153721;16158080;16162944;16198472;16249184;16303770;16306078;16387548;16407292;16429400;16480961;16713569;16799563;16804073;16806233;16817902;16825193;16880739;16885156;17019602;17081983;17141191;17160088;17198935;17296605;17331464;17344645;17452746;17636037;17655842;17681345;17989724;18065496;18068676;18072016;18192539;18195716;18245227;18267114;18272927;18281474;18304434;18334917;18360697;18385733;18403372;18420801;18435918;18559965;18635549;18654640;18660489;18682402;18727921;18752865;18774944;18835813;18854425;18936756;18996102;19008011;19032865;19040658;19056350;19056482;19062325;19126544;19242521;19252981;19292868;19303849;19323650;19336475;19360318;19470430;19533843;19578796;19621387;19720801;19727213;19727227;19733654;19811452;19876004;19878569;19913121;19913854;19948975;19966780;20005944;20026048;20028734;20031551;20067991;20071336;20130133;20145241;20167577;20171215;20173757;20235787;20376806;20466882;20513236;20534441;20554776;20595232;20615871;20628086;20648548;20655124;20817729;20863500;20868688;20965718;20971080;20980003;21093473;21139048;21145868;21146170;21310851;21325464;21540177;21609284;21619898;21645898;21652712;21664250;21693764;21738487;21757781;21775116;21826653;21836065;21871872;21906983;21963094;21987572;21993218;22035958;22059152;22064655;22152380;22153697;22258239;22311022;22331133;22363740;22384276;22425645;22429355;22474125;22505724;22672904;22678801;22690709;22786746;22939624;22966071;22969152;22984430;23000965;23106379;23147115;23184344;23208501;23226416;23422505;23465592;23515281;23610160;23680128;23703028;23818099;23825667;23913732;23985808;24105476;24152445;24217618;24298052;24484994;24704425;24868893;24912190;7759101;7903453;8006035;8156598;8314806;8402897;8626610;8918891;9062340;9070916;9242699;9634703;9651391;9765204 6720 B4DEU6;B5MD58;F6V242;J3QLB6;K7EIW8;K7EKR7;K7EMD1;K7EMT8;P36956;S4R3B4;X6RBE4 AB209609;AB373958;AB373959;ABBA01009743;ABBA01009744;ABBA01009745;AC122129;AK091131;AK095325;AK128320;AK293795;AK294800;AK297113;AMYH02033095;AMYH02033096;AMYH02033097;AMYH02033098;BC023621;BC026962;BC057388;BC063281;BE208013;BI906407;BQ025047;CH471196;NG_029029;NM_001005291;NM_004176;S66167;S66168;U00968;XM_005256772;XM_006721570;XR_429821 AAB28522;AAB28523;AAC50051;AAH23621;AAH26962;AAH57388;AAH63281;BAD92846;BAG06742;BAG06743;BAG52289;BAG53027;BAG54659;BAG57207;BAG57920;BAG59620;EAW55688;EAW55689;EAW55690;EAW55691;NP_001005291;NP_004167;P36956;XP_005256829;XP_006721633 Hs.592123;Hs.733635 1744989;1744991;1744993;1744995;1744997;1744999;1745005;1745007;2155499;5016520;5016522;5016524;5117610;5117614;5117616;5117618;5117620 GDB:592698;GDB:592707;GDB:592712;GDB:592720;GDB:592722;GDB:592724;GDB:592726;GDB:592728;GDB:592730;GDB:592732;GDB:592734;GDB:592791;GDB:592797;GDB:592800;GDB:592807;GDB:592816;L29900 SREBP-1c;SREBP1;bHLHd1 OTTHUMP00000065589;OTTHUMP00000065590;OTTHUMP00000065591;OTTHUMP00000065592;OTTHUMP00000065593;SREBP-1;class D basic helix-loop-helix protein 1;sterol regulatory element binding protein-1;sterol regulatory element-binding protein 1;sterol regulatory element-binding transcription factor 1 APPROVED protein-coding ENSG00000072310 HGNC:11289 01701 184756 REVIEWED 1604479 SREK1IP1 SREK1-interacting protein 1 ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; amiodarone 5 5 5 q12.3 61010895 61061416 - 64013975 64064496 - 64718148 64768669 - 6480464 12477932;14702039;15456940;20379614 285672 Q8N9Q2 ABBA01048337;AC008898;AK094073;AL832348;AMYH02011418;BC047006;BC108716;BC127085;BC127086;CH471137;KC876993;NM_173829 AAI08717;AAI27086;AAI27087;BAC04279;EAW51366;EAW51367;EAW51368;NP_776190;Q8N9Q2 Hs.69504 1680082;1684046;1735440;1753303;1769949;1771149;2116402;2128710;5020437 D5S1573E;RH45975;RH48771;RH92756;RH92832;SGC38270;SHGC-34182;SHGC-81717;STS-N34863 FLJ36754;MGC131910;MGC150548;MGC150549;P18SRP;SFRS12IP1 OTTHUMP00000221852;SFRS12-interacting protein 1;p18 splicing regulatory protein;splicing regulatory protein of 18 kDa APPROVED protein-coding ENSG00000153006 HGNC:26716 08210 VALIDATED 1348930 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ENCODES a protein that exhibits Rho GTPase activator activity (inferred); Rho GTPase binding (inferred); INVOLVED IN axon guidance (inferred); cell migration (inferred); positive regulation of Rho GTPase activity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol (inferred); intracellular (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 12 12 12 q14.2 63903548 64206828 + 64238276 64541643 + 63844496 64147863 + 1580863;6480464;8554872 10718198;11672528;12477932;12736724;14702039;15489334;15761153;17081983;17500595;19322201;19531213;19807924;20237496;20856855;21060114;23539728;24006490 57522 G5EA48;Q7Z6B7 AB037725;ABBA01026615;ABBA01026616;ABBA01026617;ABBA01026618;AC020611;AC025576;AC079866;AC084357;AK023899;AK025819;AK123684;AMYH02026650;AMYH02026651;AMYH02026652;AMYH02026653;BC006127;BC029919;BC053903;CH471054;NM_020762;XM_005269042;XR_245947;XR_429109 AAH53903;BAA92542;EAW97122;EAW97123;NP_065813;Q7Z6B7;XP_005269099 Hs.210751;Hs.593803 1675571;1736302;1746099;1746649;1746841;1782606;1857845;2121516;2127158;2141133;2141135;2145495;2149492;2158176;2182275;5022578;5109737 A004M33;A005Q32;D12S1232E;D12S1244E;D12S1535;D14S1430;D1S1423;G20419;G64476;G64477;G64739;RH44473;RH44524;RH68563;RH80302;SHGC-142899;SHGC-7187 ARHGAP13;FLJ22166;KIAA1304 OTTHUMP00000239355;OTTHUMP00000239356;SLIT-ROBO Rho GTPase-activating protein 1;rho GTPase-activating protein 13 protein-coding HGNC:17382 09406 606523 VALIDATED 6480848 SRGAP2-AS1 SRGAP2 antisense RNA 1 1 q32.1 121360156 121397905 - 100873165 AC244021;AK127439;HG492506;NR_104189 Hs.568525 RP11-343N15.1 APPROVED ncrna ENSG00000230806 HGNC:40902 VALIDATED 1350530 SRC SRC proto-oncogene, non-receptor tyrosine kinase This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q12-q13 32680370 32741098 + 35973088 36033835 + 37344685 37405432 + 1580863;1581139;1601371;1601372;1601373;1580850;1641809;2315078;2315083;2307340;2315076;1642762;2299174;2315077;2325284;2325012;5128669;4892084;6480464;6484113;6907045 12819032;14685170;14985360;15542065;16157790;17021051;17060931;17928626;18175071;18237558;19230846;19447874;19741150;19830888;20197063;20445128;9988270 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6714 P12931;Q9H7V3 ABBA01006617;ABBA01006618;ABBA01006619;AF077754;AF272982;AK024281;AK091756;AL034422;AL133293;AL390014;AMYH02037046;AW135290;BC011566;BC051270;CD364525;CH471077;CS566144;HY016645;K03218;KF456893;M16243;NG_023033;NM_005417;NM_198291;X02647;Z18364 AAA60584;AAC29427;AAH11566;AAH51270;ACE86438;ACE87113;ADZ15582;BAB14871;CAA26485;CAN37623;EAW76062;EAW76063;EAW76064;EAW76065;EAW76066;EAW76067;NP_005408;NP_938033;P12931 Hs.195659 1337996;1655029;1681875;1754329;1767078;1791578;1796876;2137705;2178743;2190761;5014673 D20S570E;D20S834;PMC115282P1;RH12300;RH98828;SHGC-132356;SRC;SRC_1807;UniSTS:7066;WI-14593;Z94309 ASV;SRC1;c-SRC;p60-Src OTTHUMP00000174476;OTTHUMP00000174477;OTTHUMP00000174478;proto-oncogene c-Src;proto-oncogene tyrosine-protein kinase Src;protooncogene SRC, Rous sarcoma;tyrosine kinase pp60c-src;tyrosine-protein kinase SRC-1;v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog APPROVED protein-coding ENSG00000197122 HGNC:11283 01819 190090 REVIEWED 6481055 SRGAP2-IT1 SRGAP2 intronic transcript 1 (non-protein coding) 100874341 AL161736 miscrna HGNC:41454 1321393 SRF serum response factor (c-fos serum response element-binding transcription factor) This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] 6 6 6 p21.1 44691142 44701465 + 43138920 43149244 + 43171182 43181506 + 1581423;1581424;1581425;1581426;1581427;1581428;1581473;1580754;1580863;1580749;1580753;6480464;6484113;6907045 11893590;12654640;12874181;12909581;15569937;16260633;16600861;16822834;16894357;9570363 10082523;10318842;10318869;10336466;10556093;10571058;10606656;10753652;10777532;10847592;10993896;11003651;11104785;11136726;11158291;11181183;11278942;11359793;11387340;11406578;11439182;11457859;11500490;11641790;11846562;11859076;12061776;12077347;12082086;12171911;12200418;12242287;12270917;12297045;12397177;12477932;12530967;12622724;12660819;12663674;12788062;12788374;12853125;14565952;15014501;1512232;15180964;15207639;15282327;15326221;15456770;1547771;15489334;15492011;15542842;15576363;15591049;15610731;15802564;15806162;15857835;15862967;16054032;16151017;16690609;17081983;17122890;17158926;17200232;17215356;17360478;17376895;1740119;17576768;17599918;17629633;17975004;18029348;18078809;18296735;18497331;18501668;18694962;18780286;19079548;19098903;19151320;19151755;19198601;19329434;19342595;19350017;19359245;19513551;19609363;19687146;19724058;19783823;19801679;19913121;19953255;20096952;20144681;20147408;20379614;2046671;20628086;20685657;20724380;20808827;20811705;2108863;21131446;21393865;21410985;21479245;21777672;21842128;21893058;21965288;21988832;21998125;22049076;22157009;22192413;22356487;22537405;23134219;23152437;23382706;23382855;23454662;23469924;23576568;24088304;24173109;24249383;3203386;7540136;7551568;7624133;7637780;7796532;7854423;8024585;8083237;8106390;8375385;8407951;8413226;8604338;8617811;8670842;8887666;9010223;9032301;9271374;9334314;9388250;9545312;9584171;9786846 6722 P11831 AB209128;ABBA01050693;ABBA01050694;AI085561;AK300467;AL133375;AL355385;AMYH02013642;BC048211;BC052572;CH471081;CS542447;J03161;NM_001292001;NM_003131 AAA36647;AAH48211;AAH52572;BAD92365;BAG62186;CAM91173;EAX04161;EAX04162;NP_001278930;NP_003122;P11831 Hs.520140 2179492;2179494;2218060;5037744 D1S3694;D6S2165;RH46608;SRF_3467 MCM1 OTTHUMP00000016422;serum response factor APPROVED protein-coding ENSG00000112658 HGNC:11291 02788 600589 REVIEWED 2303324 SRGAP2B SLIT-ROBO Rho GTPase activating protein 2B This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozygous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, Dec 2012] 1 1 1 q21.1 1664 2269 - 143915897 144094426 + 144890674 145095328 - 6480464 12477932;22559943;22559944 647135 P0DMP2 AC242498;AL078463;AL109844;BX537114;CR589924;FP700111;NM_001271870;XM_005277419;XM_005277420;XM_005277421;XM_005277422 CAI13084;CAI20334;CAM28370;NP_001258799;P0DMP2;XP_005277476;XP_005277477;XP_005277478;XP_005277479 Hs.497575 1671757;1676616;1692210;1723637;1761225;1849813;2160380 AL033759;D1S2588;G09800;L17904;RH119472;RH64519;SHGC-145233 SRGAP2L;SRGAP2P2;WI2-929E21 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2;SLIT-ROBO Rho GTPase activating protein 2B (pseudogene) APPROVED protein-coding HGNC:35237 614703 REVIEWED 7253144 SRGAP2D SLIT-ROBO Rho GTPase activating protein 2D (pseudogene) This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. This duplicated locus lacks an internal exon, and thus this gene copy may not be functional. Expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, May 2014] 1 1 788052 885256 + 143972639 144069843 + 22559943 100996712 AC244015;AC246680;DB047919;HY032968;NM_001271887;NR_120535;XM_005277329;XM_005277330 NP_001258816;XP_005277386;XP_005277387 Hs.497575;Hs.649575 SLIT-ROBO Rho GTPase-activating protein 2-like;SLIT-ROBO Rho GTPase-activating protein 2D APPROVED pseudo HGNC:43932 614705 VALIDATED 6480826 SRGAP3-AS1 SRGAP3 antisense RNA 1 p25.3 100874103 AC034186;AI209215;BX111651 Hs.560675 APPROVED ncrna HGNC:40898 6481222 SRGAP3-AS4 SRGAP3 antisense RNA 4 100874132 AC026191 APPROVED ncrna HGNC:42434 5144719 SRGAP3-AS3 SRGAP3 antisense RNA 3 3 3 p25.3 9258579 9261192 + 9216895 9219508 + 100288831 B7Z7J9 ABBA01020414;AC037193;AK302139;AMYH02006228;HG495442;NR_103443 BAH13635 Hs.694646 AC037193.2 SRGAP3 antisense RNA 3 (non-protein coding) APPROVED ncrna HGNC:40900 VALIDATED 5144597 SRGAP3-AS2 SRGAP3 antisense RNA 2 3 9234219 9236137 + 100507660 XR_110029;XR_133336 APPROVED ncrna HGNC:40899 1345309 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 ENCODES a protein that exhibits GTPase activator activity (inferred); INVOLVED IN positive regulation of GTPase activity (inferred); regulation of small GTPase mediated signal transduction (inferred); small GTPase mediated signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH cytarabine; quercetin; valproic acid 3 3 3 p25.3 8956988 9226019 - 9022275 9291369 - 8980591 9249685 - 1580863;6480464;8554872 10574461;11672528;12168954;12195014;12368262;12447388;12477932;12736724;14702039;16344560;16730001;17043677;17500595;19433673;19760623;19807924;20035503;20237496;20379614;20467438;23108406;23455924;24300292;8889548;9455477 9901 O43295 AB007871;AB032982;ABBA01020414;ABBA01020415;AC026191;AC034186;AC037193;AC066583;AF427144;AF464189;AK054831;AK094355;AK126331;AL137457;AL390174;AMYH02006223;AMYH02006224;AMYH02006225;AMYH02006226;AMYH02006227;AMYH02006228;AU120948;BC039300;BC140004;BM976179;CH471055;DA532895;KF457566;KF495730;NM_001033117;NM_014850;XM_005265622;XM_006713433;XR_427300 AAH39300;AAI72359;AAN07095;AAN57784;BAA24841;BAA86470;EAW63950;EAW63951;NP_001028289;NP_055665;O43295;XP_005265679;XP_006713496 Hs.654743 1337159;1696348;1727297;1730481;1753953;1756209;1764197;1764931;1764933;1767086;1776287;1784758;1855098;2126118;2147526;2167342;2172728;5017433;5022200;5022588;5022651;5037552;5491908 A002R42;D11S2921;D3S2405;D3S726;D5S1597E;D8S2279;DXS8011;G63055;L18426;NIB673;SGC30473;SHGC-143079;SHGC-147835;SHGC-148487;SHGC-148488;SHGC-154513;SHGC-57635;SHGC-76688;SHGC-77796;SHGC-89278;STS-F02849;STS-T76997;Srgap3 ARHGAP14;KIAA0411;SRGAP2;WRP MEGAP;OTTHUMP00000115707;OTTHUMP00000207115;SLIT-ROBO Rho GTPase activating protein 2;SLIT-ROBO Rho GTPase-activating protein 3;WAVE-associated Rac GTPase activating protein;WAVE-associated Rac GTPase-activating protein;mental disorder-associated GAP;rho GTPase-activating protein 14 protein-coding ENSG00000196220 HGNC:19744 12108 606525 VALIDATED 1346396 SRGN serglycin This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010] 10 10 10 q22.1 64123664 64140417 + 70847828 70864567 + 69088072 69104811 + 6480464 10228010;11012225;11154222;11469527;11911826;12388539;12477932;12766061;1377686;14506241;14630798;14739229;15136585;15342556;15489334;15788411;16189514;16712791;16713569;16870619;17909965;18000860;21075844;21268013;21289131;2180935;21849484;21900206;22807344;23376071;23387827;23903356;23996242;24403068;24513305;2714783;2726751;2798108;2835370;3214420;3366780;3402609;4062880;7559813;7821789;8613703;9334256 5552 P10124 ABBA01019599;AI347627;AK311873;AL442635;AMYH02023269;BC015516;BC022313;BG057351;BG548665;BP335278;BQ051861;CA308463;CB110512;CD677686;CH471083;D28395;J03223;M33651;NM_002727;NR_036430;X12765;X17042 AAA60179;AAA60322;AAH15516;ABM82368;ABM85546;BAA05761;BAG34814;CAA31255;CAA34900;EAW54309;EAW54310;NP_002718;P10124 Hs.1908 1648617;1742249;1760137;1856060;2128434;2172097 D10S2147;GDB:193871;RH45489;SHGC-132036;STS-X17042;WI-17483 FLJ12930;MGC9289;PPG;PRG;PRG1;p.PG OTTHUMP00000019716;hematopoetic proteoglycan core peptide;hematopoetic proteoglycan core protein;hematopoietic proteoglycan core protein;platelet proteoglycan core protein;platelet proteoglycan protein core;proteoglycan 1, secretory granule;proteoglycan protein core for mast cell secretory granule;secretory granule proteoglycan 1;secretory granule proteoglycan core peptide;secretory granule proteoglycan core protein;serglycin proteoglycan APPROVED protein-coding ENSG00000122862 HGNC:9361 01513 177040 REVIEWED 1603455 SRGAP2C SLIT-ROBO Rho GTPase activating protein 2C This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012] 1 1 1 p11.2 1 2412 + 120835810 120838261 - 121184967 121389290 + 6480464 12477932;15252450;17903296;21906983;22559943;22559944;24816145 653464 P0DJJ0 ABBA01127078;AC243994;AC244021;AC244453;AL358175;BC017972;BC036880;BC112927;NM_001271872;XM_005277497;XM_005277498;XM_005277499 NP_001258801;P0DJJ0;XP_005277554;XP_005277555;XP_005277556 Hs.497575;Hs.523529;Hs.698027 1681056;1681773;1688797;1714247;1781470;2158769;2163716;2164118 D1S283E;G29313;G34859;RH119902;RH36527;RH48365;RH64480;SHGC-112560 MGC131678;RP11-439A17.7;SRGAP2P1 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1;SLIT-ROBO Rho GTPase-activating protein 2C APPROVED protein-coding HGNC:30584 614704 REVIEWED 1603684 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014] 1 1 1 q32.1 179840685 179889229 + 206516197 206637783 + 206203464 206464443 + 6480464 11672528;12477932;12736724;14702039;15046868;15252450;15324660;16318909;17043677;17979178;19041431;19807924;19913121;20379614;20602751;20628086;20810653;21139048;21148482;21906983;21963094;22106086;22261722;22467852;22559943;22559944;22797925;23031429;23443559;23782070;23892896;24255178;24816145;8268792;9455484 23380 A2RUF3;B4DFE5;B7Z3G4;B7ZM87;E9PDX4;O75044;Q5VZB4 AB007925;ABBA01010189;ABBA01010190;AC244023;AC244034;AC244035;AC244158;AK000885;AK057565;AK124556;AK293335;AK294060;AK295845;AL109844;AL161736;BC041635;BC063527;BC132872;BC132874;BC144343;BC150646;CA447513;CH471100;CR407567;DA110905;NG_033804;NM_001170637;NM_001300952;NM_015326;S68466;XM_005277510;XM_005277511;XM_005277512;XM_005277513;XM_005277514;XM_005277515;XM_006711246;XM_006711247 AAI32873;AAI32875;AAI44344;BAA32301;BAG50836;BAG56851;BAG57406;BAH12200;CAH73674;CAH73675;CAH73676;EAW93550;NP_001164108;NP_001287881;NP_056141;O75044;XP_005277567;XP_005277568;XP_005277569;XP_005277570;XP_005277571;XP_005277572;XP_006711309;XP_006711310 Hs.497575;Hs.729527;Hs.744555 1338199;1681056;1681773;1688797;1714247;1781470;2107107;2120522;2123691;2131725;2137774;2141117;2143485;2146987;2154828;2158769;2163716;2164118;2183119;5113078;5124972 A002S48;D1S2636;D1S283E;FNBP2__6744;G29313;G34859;IB1439;RH119902;RH36527;RH44985;RH48365;RH64480;RH64549;RH64614;RH66387;RH66473;SHGC-112560;SHGC-76221;SHGC-76240;SHGC-76241;SHGC-76254 ARHGAP34;FNBP2;KIAA0456;RP11-312O7.2;SRGAP2A;srGAP3 OTTHUMP00000034541;OTTHUMP00000034542;SLIT-ROBO GAP2;SLIT-ROBO Rho GTPase-activating protein 2;formin binding protein 2;formin-binding protein 2;rho GTPase-activating protein 34 protein-coding ENSG00000266028 HGNC:19751 18520 606524 REVIEWED 1346786 SRIP1 sorcin pseudogene 1 4 4 4 q12 56472233 56472715 + 58969313 58969795 + 58103147 58103629 + 9847074 6644 ABBA01003458;AC096725;AMYH02009284;NG_003017 SRIL APPROVED pseudo HGNC:11293 INFERRED 4110704 SRIP2 sorcin pseudogene 2 Y X X q21.31 2628353 2628584 + 88622465 88622696 - 89367466 89367697 - 100499485 AL121872;AMYH02039939;NG_027484 pseudo HGNC:38734 INFERRED 5685720 SRIP3 sorcin pseudogene 3 Y Y 6586991 6587221 - 6718950 6719180 - 9847074 100861435 ABBA01034878;AC013412;NG_032006 pseudo HGNC:38735 INFERRED 1603229 SRI sorcin This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012] 7 7 7 q21.1 82539034 82560910 - 87834430 87856308 - 88205115 88226993 - 6480464;7327201;7327198;7327200;8554872 11485922;12754254;20945956 10672515;10748169;11714909;12408767;12411058;12477932;12804766;1286667;15231748;15326289;15489334;15808837;15862967;16130169;16169070;16189514;16320026;16341674;16344560;16931553;16934756;17130302;17215369;17541155;17643375;17699613;17893145;18315902;18330356;18423116;18624398;19738201;19885748;19913121;20012234;20628086;20647321;20858460;20972266;21109982;21139048;21890473;21906983;21963094;21979464;21988832;22052463;22053931;22338092;22623428;22701893;23000965;23443559;23602568;24013575;24337682;24376145;24796664;24816145;2901906;7592856;7835417;7873602;8561500;9268363;9570944;9668070 6717 B4DHQ6;C9J0K6;E9PG82;P30626 ABBA01045860;AC003991;AC005075;AK129770;AK295225;AK296601;AK310366;AL039198;AL117616;AL576812;AMYH02016226;BC011025;BI524104;BI559592;BI597920;BM739144;BM793972;BU854353;CH236949;CH471091;DA268050;DB540255;L12387;M32886;NG_032138;NM_001256891;NM_001256892;NM_003130;NM_198901;XM_006716097 AAA60588;AAA92155;AAB96327;AAH11025;BAG58218;BAG59214;EAW76909;EAW76910;EAW76911;NP_001243820;NP_001243821;NP_003121;NP_944490;P30626;XP_006716160 Hs.489040 1670658;2130791;2152311;2183335;5015619;5037552;5491751 D11S3114;D7S2348;D7S2744;D8S2279;RH68539;SRI;STS-N52223 CP-22;CP22;FLJ26259;H_RG167B05.1;SCN;V19 22 kDa protein;OTTHUMP00000161663;OTTHUMP00000205590;OTTHUMP00000206386;OTTHUMP00000213080;OTTHUMP00000225575;calcium binding protein amplified in mutlidrug-resistant cells APPROVED protein-coding ENSG00000075142 HGNC:11292 01680 182520 REVIEWED 1315254 SRL sarcalumenin ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); INVOLVED IN GTP catabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN sarcoplasmic reticulum (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3-methylcholanthrene (ortholog) 16 16 16 p13.3 4446058 4499081 - 4239375 4292081 - 4189374 4242080 - 6480464;8554872 14702039;16344560;23251661;2762314;8681137 6345 B3KPP4;B4DYT9;I3L4D6;Q86TD4 ABBA01026762;ABBA01026763;AC009171;AK056588;AK302601;AL831973;AL832361;AMYH02031319;BX647476;DA563862;DB149163;F26773;NM_001098814 AAI60181;BAG51756;BAG63851;CAD89901;NP_001092284;Q86TD4 Hs.10041 1338638;1697706;2219720;5037552 D16S3084;D8S2279;RH102371;SRL__5315 protein-coding ENSG00000185739 HGNC:11295 604992 VALIDATED 1345666 SRML2 spermidine synthase-like 2 6724 HGNC:11297 1345441 SRMP1 spermidine synthase pseudogene 1 20 20 20 q13.13 43186670 43187903 + 46488460 46489693 + 47859716 47860949 + 170552 ABBA01052710;AL121777;AMYH02037186;NG_001057 1686046 D20S539E dJ1057D4.1 pseudo HGNC:16552 INFERRED 1353214 SRMP2 spermidine synthase pseudogene 2 14 14 14 q23.1 41435955 41437136 - 61385700 61386881 - 60918982 60920163 - 326269 ABBA01018292;AL160236;AMYH02029303;AY165512;NG_002532 pseudo HGNC:20034 INFERRED 732806 SRM spermidine synthase The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor. [provided by RefSeq, Jul 2008] 1 1 1 p36-p22 10226954 10232396 - 11114649 11120091 - 11054592 11060034 - 1300048;1580863;6480464;6907045;7242920;7242932;7242425;7244193 13678416;16931179;2292587;23073625 12477932;15489334;17585781;19615732;19738201;20562859;2069720;21044950;21139048;21890473;21906983;21963094;21988832;22053931;22623428;22939629;23000965;2344393;24816145;25027693;2730590;3248683;3481684;7629810;7774716;8343131;9020892 6723 K7EKM4;K7EL89;K7EQ47;K7ESL0;P19623 ABBA01003037;AL109811;AMYH02000279;AMYH02000280;BC000309;BC033106;CH471130;M34338;M64231;NM_003132 AAA36633;AAA60574;AAH00309;AAH33106;ACE86475;ACE87156;EAW71675;EAW71676;NP_003123;P19623 Hs.76244 1686046;2161122;5122092 D20S539E;RH70746;STS-M34338 PAPT;SPDSY;SPS1;SRML1 OTTHUMP00000002170;putrescine aminopropyltransferase;spermidine synthase-1 APPROVED protein-coding ENSG00000116649 HGNC:11296 01692 182891 VALIDATED 1315310 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ENCODES a protein that exhibits protein tyrosine kinase activity; INVOLVED IN peptidyl-tyrosine autophosphorylation; FOUND IN cytoplasm; INTERACTS WITH benzo[a]pyrene; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 20 20 20 58852519 58859217 - 62172163 62178857 - 63539924 63547504 - 1580863;6480464 11780052;18976975;19953087;23535732;23822091;7935409 6725 Q9H3Y6 ABBA01021402;AL121829;AMYH02037463;CH471077;NM_080823 AAI48644;AAI53199;EAW75261;NP_543013;Q9H3Y6 C20orf148;SRM;dJ697K14.1 OTTHUMP00000031561;tyrosine-protein kinase Srms protein-coding HGNC:11298 10250 VALIDATED 1603145 SRP14P1 signal recognition particle 14kDa (homologous Alu RNA binding protein) pseudogene 1 12 12 12 p13.31 8164533 8165195 + 6547641 6548303 + 6438475 6439137 + 19773279 390284 ABBA01017642;AC005840;AMYH02025951;NG_012939 2161282 SHGC-2359 pseudo HGNC:33181 INFERRED 7244624 SRP14-AS1 SRP14 antisense RNA1 (head to head) 15 15 15 q15.1 17094727 17125405 + 40331512 40359710 + 40039311 40067509 + 22327514;23251661;8889548 100131089 ABBA01038461;ABBA01038462;ABBA01038463;ABBA01038464;AC021755;AC025168;AI424388;AK127696;AMYH02030232;BM706250;BU737016;BX111264;EB388563;HG506910;HG506911;HG506912;NR_040059;NR_040060;NR_040061;NR_040062 Hs.386000 5022578 D1S1423 RP11-521C20.4 ncrna ENSG00000248508 HGNC:48619 VALIDATED 8661509 SRP54-AS1 SRP54 antisense RNA 1 (head to head) 14 14 35408019 35451791 - 34916680 34982669 - 100506157 ABBA01061491;ABBA01061492;ABBA01061493;AL049776;AL121603;AMYH02029000;AMYH02029001;AMYH02029002;AMYH02029003;XR_110279;XR_133038;XR_172037;XR_245751;XR_247987;XR_253241;XR_424490;XR_424491;XR_429352;XR_429353;XR_432969;XR_432970 ncrna HGNC:50643 MODEL 1318204 SRP19 signal recognition particle 19kDa ENCODES a protein that exhibits 7S RNA binding; poly(A) RNA binding; INVOLVED IN response to drug; ASSOCIATED WITH Adenomatous Polyposis Coli (inferred); Melanoma (inferred); FOUND IN cytoplasm; mitochondrion; nucleolus; INTERACTS WITH 4-hydroxyphenyl retinamide; 5-fluorouracil; benzo[a]pyrene diol epoxide I 5 5 5 q21-q22 108142564 108149171 + 112196885 112228776 + 112861188 112893079 + 1580863;6480464;8554872 10618370;10737800;11641499;11682607;12050674;12244299;12477932;15146197;15489334;15635413;16344560;16368877;16461635;1651174;1678319;17434535;17881443;18029348;18089836;20179341;21139048;22863883;22939629;23221635;23824909;2460823;9016569 6728 D6RBG4;P09132 AA845342;ABBA01069051;ABBA01069052;AC008536;AC008575;AK311803;AMYH02011978;AMYH02011979;AW890522;BC000186;BC010947;BC017830;BC018669;BU661702;BY798924;CH471086;CN265235;CS185567;DA930867;DN915735;NM_001204193;NM_001204194;NM_001204196;NM_001204199;NM_003135;X12791 AAH10947;AAH17830;BAG34746;CAA31280;CAJ42748;EAW48996;EAW48999;EAW49000;NP_001191122;NP_001191123;NP_001191125;NP_001191128;NP_003126;P09132 Hs.637001 1646623;1680677;1718317;2138250;2146750 RH122930;RH71327;RH71328;RH80911;SHGC-12708 OTTHUMP00000159018;OTTHUMP00000223354;OTTHUMP00000223355;OTTHUMP00000223357;signal recognition particle 19 kDa protein;signal recognition particle 19kD protein-coding ENSG00000153037 HGNC:11300 01644 182175 VALIDATED 1350478 SRP54 signal recognition particle 54kDa ENCODES a protein that exhibits 7S RNA binding; drug binding; endoplasmic reticulum signal peptide binding; INVOLVED IN GTP catabolic process; protein targeting to ER; response to drug; FOUND IN cytoplasm; nucleus; signal recognition particle, endoplasmic reticulum targeting; INTERACTS WITH benzene; cyclosporin A; taurine 14 14 14 q13.2 15315912 15362600 + 35451901 35498773 + 34982695 35029567 + 6480464 10497032;10618370;11680843;12244299;12477932;14729963;15489334;16344560;17558393;18029348;18089836;20379614;20516149;21139048;21890473;21906983;22174317;22505724;22939629;23000965;23221635;23667531;24250222;24778252;24816145;25015289;8247130;8622769;8722571;9016569;9511762;9512475 6729 G3V346;G3V3L9;G3V480;G3V4F7;P61011 ABBA01061493;ABBA01061494;ABBA01061495;ABBA01061496;AK293319;AK300824;AK312853;AL049776;AMYH02029003;AMYH02029004;AMYH02029005;BC000652;BC003389;DA495064;NM_001146282;NM_003136;U51920;X86373;XM_005268024 AAC50994;AAH00652;AAH03389;ADZ15911;BAG35706;BAG56838;BAG62478;CAA60132;NP_001139754;NP_003127;P61011;XP_005268081 Hs.167535 1663366;1852863;2141351;2173956 G35379;G35634;RH68420;RH70669 OTTHUMP00000178810;OTTHUMP00000244496;signal recognition particle 54 kDa protein;signal recognition particle 54kD protein-coding ENSG00000100883 HGNC:11301 05330 604857 VALIDATED 1318313 SRP14 signal recognition particle 14kDa (homologous Alu RNA binding protein) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN protein targeting to ER; response to drug; FOUND IN cytoplasm; extracellular vesicular exosome; intercellular bridge; INTERACTS WITH arsenite(3-); atrazine; carmustine 15 15 15 q22 17091190 17094604 - 40327891 40331389 - 40035690 40039188 - 1580863;6480464 11089964;11790298;12477932;12777385;15489334;15635413;15840729;16169070;16196087;17207965;17353931;18089836;18455985;18781797;19710015;19738201;20348448;21139048;21145461;2153922;21853274;21890473;21906983;21963094;22327514;22505724;22863883;22939629;23000965;23151878;23166591;23221635;23251661;23349634;23398456;23455922;23463506;24337577;24457600;24583282;24778252;24816145;25036637;2557625;7542942;8196634;9016560 6727 H0YLA2;H0YLW0;P37108 AB061546;AB451391;ABBA01038464;AC025168;AMYH02030232;BC035495;BC051006;BC071716;BC100031;CH471125;CV575824;NM_003134;NR_104021;U07857;X73459 AAA59066;AAH35495;AAH71716;AAI00032;ADQ32219;BAB69067;BAG70205;CAA51838;EAW92390;EAW92391;NP_003125;P37108 Hs.533732 1688724;1745943;2130692;2145497;2152899;5023301 A004I33;D17S1974;G64291;RH17797;RH70343;g04502m MGC14326 18 kDa Alu RNA-binding protein;ALURBP;signal recognition particle 14 kDa protein protein-coding ENSG00000140319 HGNC:11299 02831 600708 VALIDATED 1313366 SRP68 signal recognition particle 68kDa This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012] 17 17 17 q25.1 70625234 70658709 - 74034856 74068607 - 76038775 76072526 - 1580863;6480464;8554872 10618370;11281415;12477932;14702039;15252450;15489334;16344560;16672232;17254600;17558393;17643375;18029348;18089836;18347438;18564060;19615732;19693936;21139048;21145461;21812966;21890473;21906983;21907836;21963094;21987572;22586326;22797925;22863883;22939629;23000965;23048028;23125841;23221635;23349634;23667531;24250222;24457600;24700861;24816145;25027693;8388879;9399828 6730 K7EN53;K7EQC2;Q9UHB9 ABBA01028761;ABBA01028762;AC040980;AF195951;AK002002;AK027320;AK027322;AK074698;AK092935;AK097962;AK098159;AK126258;AK301100;AL512708;AMYH02034004;AMYH02034005;AU137443;BC000760;BC013308;BC020238;CH471099;CQ783601;DB315535;DQ786315;NM_001260502;NM_001260503;NM_014230;NR_048541 AAF24308;AAH20238;BAB55040;BAB55041;BAC11145;BAG51001;BAG53557;BAG54299;BAG62699;CAF86767;EAW89358;EAW89359;EAW89360;EAW89361;EAW89362;EAW89363;NP_001247431;NP_001247432;NP_055045;Q9UHB9 Hs.514495 1341390;1766885;2219722;5015961;5022322;5037552 D11S2560;D15S1477;D17S1603;D8S2279;SHGC-152313;SRP68__5316 signal recognition particle 68 kDa protein;signal recognition particle 68kD;signal recognition particle subunit SRP68 APPROVED protein-coding ENSG00000167881 HGNC:11302 05331 604858 REVIEWED 1351238 SRP72P1 signal recognition particle 72kDa pseudogene 1 18 18 18 q21.1 43876548 43878299 - 47021516 47023267 - 49495146 49496897 - 100420752;414747 ABBA01018653;AC100778;AMYH02034696;NG_026292 pseudo HGNC:31095 INFERRED 3401209 SRP68P1 signal recognition particle 68kDa pseudogene 1 17 17 p11.2 16690448 16691553 - 16787134 16788239 - 10615134;11997339 252841 AC022596;AC098850;AMYH02033081;NG_001591 SRPSMCR pseudo HGNC:30427 VALIDATED 3401281 SRP68P2 signal recognition particle 68kDa pseudogene 2 17 17 p11.1 18430873 18431776 + 18527559 18528462 + 11997339 252840 ABBA01177868;AC107983;AMYH02033116;NG_001590 SRPSMCR pseudo HGNC:30426 INFERRED 1348001 SRP9 signal recognition particle 9kDa ENCODES a protein that exhibits 7S RNA binding (inferred); RNA binding (inferred); signal recognition particle binding (inferred); INVOLVED IN cellular protein metabolic process (inferred); gene expression (inferred); negative regulation of translational elongation (inferred); PARTICIPATES IN interleukin-3 signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; 4-hydroxynon-2-enal; 5-fluorouracil 1 1 1 q42.12 199156523 199169222 + 225965515 225978168 + 225777813 225790466 + 1580863;6480464;6484113 11089964;12477932;12775420;15489334;15635413;16226712;16344560;17154533;17500595;18549262;20348448;21139048;21150319;2153922;21890473;21906983;21963094;22053931;22174317;22505724;22623428;22863883;22939629;22990118;23000965;23151878;23221635;23349634;23443559;23455922;24457600;24816145;25015289;7518078;7730321;8619474;9110174 6726 E9PE20;P49458 ABBA01009662;AC099066;AF070649;AK289595;AL050363;AMYH02002794;BC008443;BC015094;BC017414;BC021995;BC022415;BC064351;BC066957;BC067845;BC106005;CH471098;DA983529;DB194289;EF488978;NM_001130440;NM_003133;U20998 AAA70170;AAH08443;AAH15094;AAH17414;AAH21995;AAH22415;AAH64351;AAH66957;AAH67845;AAI06006;ABP02070;BAF82284;CAH56414;EAW69750;EAW69751;EAW69752;EAW69753;NP_001123912;NP_003124;P49458 Hs.511425;Hs.706900 1664650;1687469;5023327;5037552 D8S2279;HSC0JF072;L18023;RH64715 MGC110981 ALURBP;OTTHUMP00000035860;OTTHUMP00000035861;signal recognition particle 9 kDa protein;signal recognition particle 9kD protein-coding ENSG00000143742 HGNC:11304 02830 600707 VALIDATED 1353021 SRP72P2 signal recognition particle 72kDa pseudogene 2 6 6 6 q25.3 159306212 159311859 - 158658168 158663816 - 158237136 158242784 - 153932;414748 ABBA01021093;ABBA01021094;AL133347;AMYH02014840;NG_001558 1656994 STS-W93645 dJ274L14.2 pseudo HGNC:31096 INFERRED 3323317 SRP68P3 signal recognition particle 68kDa pseudogene 3 17 17 p11.1 20319104 20320008 - 20415791 20416695 - 11997339 347717 AC015818;AMYH02033185;NG_002720 SRPSMCR pseudo HGNC:30428 INFERRED 5488962 SRPK2P SRSF protein kinase 2 pseudogene 8 8 8 q12.3 59765757 59766680 - 63775641 63776564 - 62863082 62864005 - 100419416 ABBA01041833;AC087358;AMYH02018068;NG_026032 2142374 SHGC-57147 SRPK2ps pseudo HGNC:30303 INFERRED 1314481 SRP72 signal recognition particle 72kDa This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 4 4 4 q11 54840136 54876261 + 57333370 57369847 + 56467204 56503681 + 1580863;6480464;8699517;8554872;7240710 10618370;10964510;12477932;14702039;15146197;15231748;15588816;16196087;16672232;17254600;17643375;18029348;18089836;18441046;18654987;20639865;20729213;21073748;21139048;21145461;21890473;21906983;21907836;21963094;21987572;22053931;22505724;22541560;22586326;22837378;22863883;22939629;22944692;23000965;23048028;23125841;23349634;23667531;24457600;24778252;2830980;8125298;8388879;8889548;9224693;9399828;9857079 6731 D6RDY6;O76094;R4GNC1;V9HWK0 ABBA01003425;ABBA01003426;AC114766;AF038851;AF069765;AF077019;AF086131;AK023480;AK225430;AK307397;AMYH02009258;BC017057;BC032609;BC040134;BC046143;BC056901;BC065018;BC105583;BM985263;BM985419;BX537991;CH471057;CN270014;DB487204;EU794663;NG_032796;NM_001267722;NM_006947;XM_005265765 AAC27324;AAC97490;AAH17057;AAH32609;AAH40134;AAH46143;AAI05584;AAI60164;AAQ13423;ACJ13717;CAD97950;EAX05495;EAX05496;EAX05497;EAX05498;NP_001254651;NP_008878;O76094;XP_005265822 Hs.237825 1656994;1658717;1683705;1754721;1856175;2146733;5019685 A009E15;G19659;G32470;RH10468;SHGC-133081;SHGC-64104;STS-W93645 BMFF;BMFS1;HEL103 OTTHUMP00000159063;OTTHUMP00000218925;epididymis luminal protein 103;signal recognition particle 72 kDa protein;signal recognition particle 72kD;signal recognition particle subunit SRP72 APPROVED protein-coding HGNC:11303 03671 602122;614675 REVIEWED 1349288 SRPK3 SRSF protein kinase 3 This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q28 153280137 153284868 + 153046456 153051187 + 153781001 153785732 + 1580863;6480464 11063724;12477932;14559993;16140986;18976975;21139048;21145461;22939624;23602568 26576 A8MPP7;A8MPY5;E7ETV6;H7C1T4;H7C2I2;Q9UPE1 ABBA01045357;ABBA01045358;AF027406;AK301749;AK314828;AMYH02040844;BC092416;BC117124;CH471172;DQ099381;NG_016329;NM_001170760;NM_001170761;NM_014370;U52111;U82808 AAD00539;AAD01848;AAH92416;AAI17125;AAZ13757;BAG63211;EAW72812;EAW72813;EAW72814;NP_001164231;NP_001164232;NP_055185;Q9UPE1 Hs.104865 1676890;1688084;1856694;2109897;2182202 A004O03;RH12600;RH92620;RH92840;STK23_9495 MGC102944;MSSK-1;MSSK1;STK23 OTTHUMP00000025939;OTTHUMP00000025940;OTTHUMP00000025943;OTTHUMP00000214780;OTTHUMP00000214781;SFRS protein kinase 3;SR-protein-specific kinase 3;muscle-specific serine kinase 1;serine arginine rich protein-specific kinase 3;serine/arginine-rich protein-specific kinase 3;serine/threonine kinase 23;serine/threonine-protein kinase 23;serine/threonine-protein kinase SRPK3 APPROVED protein-coding ENSG00000184343 HGNC:11402 06731 REVIEWED 1312294 SRPRB signal recognition particle receptor, B subunit The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008] 3 3 3 q22.1 131929996 131966138 + 133502877 133540336 + 133784033 133821492 + 1580863;6480464 10459008;12477932;12918107;14702039;15489334;16169070;16303743;17080297;17207965;17353931;18344599;18781797;19084217;19322201;19615732;19664239;21139048;21145461;21343306;21665994;21726808;21890473;21906983;21987572;22268729;22412018;22505724;22939629;23000965;23125841;23181366;23246001;23798571;24250222;24255178;24583282;24654937;7844142 58477 C9J5Z8;H7C4H2;Q549N5;Q9Y5M8 ABBA01059163;ABBA01059164;AC080128;AF086914;AF141882;AK027307;AK027525;AK075531;AMYH02007711;AX136337;BC019005;BC063001;BC065299;CH471052;CS051373;DB448771;NM_021203 AAD34888;AAH63001;AAH65299;AAP97144;ADQ32575;BAB55176;BAC11675;CAC39810;CAI72181;EAW79160;EAW79161;EAW79162;NP_067026;Q9Y5M8 Hs.12152 1666105;1668596;1701038;1733816;1733818;1777814;2120250;2124507;2127289;5092854;7184877 A009B03;D3S1484;D3S1485;D3S2906E;D3S3323;G32372;RH104146;RH11713;WI-13553;WI-17961 APMCF1 OTTHUMP00000216377;SR-beta;signal recognition particle receptor subunit beta;signal recognition particle receptor, beta subunit APPROVED protein-coding ENSG00000144867 HGNC:24085 18105 REVIEWED 1345951 SRPSMCR signal recognition particle, Smith Magenis syndrome chromosome region 10615134 27167 HGNC:11308 1345790 SRP9P1 signal recognition particle 9 pseudogene 1 10 10 10 q23.32 87309423 87310961 - 93565800 93567290 - 91806043 91807533 - 11181995 653226 ABBA01021925;AL359707;AMYH02023523;CH471066;NG_012272 EAW50106 1664650;1687469 HSC0JF072;RH64715 SRP9L1 APPROVED pseudo HGNC:23402 INFERRED 733583 SRPX sushi-repeat containing protein, X-linked INVOLVED IN autophagy (inferred); cell adhesion (inferred); negative regulation of cell proliferation involved in contact inhibition (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN autophagic vacuole (inferred); endoplasmic reticulum (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; 5-azacytidine X X X p21.1 42146231 42217816 - 38008588 38080177 - 38149335 38220924 - 1580863;6480464;8554872 12152160;12477932;12493773;12716466;12874760;15021917;15489334;15772651;16344560;19424611;19596235;19615732;19862339;20406461;209648;21145461;8634708;8634709;8889548;9162095 8406 P78539 ABBA01047047;ABBA01047048;ABBA01047049;ABBA01047050;ABBA01047051;AK125542;AK289430;AK293127;AK298802;AL121578;AL133494;AL606748;AL627246;AMYH02039171;BC020684;BM672597;CH471141;DA422854;DC388035;EU668359;NG_016373;NM_001170750;NM_001170751;NM_001170752;NM_006307;S82496;U61374;U78093 AAB36685;AAB37378;AAB37379;AAB40715;AAH20684;ACF94512;BAF82119;BAG54210;BAG56679;BAG60937;EAW59445;EAW59446;EAW59447;NP_001164221;NP_001164222;NP_001164223;NP_006298;P78539 Hs.15154 1702970;1772180;2108525;2112864;2112866;2112868;2112870;2112872;2112874;2112876;2112878;2115747;2139565;5493876 DXS1450;DXS9858;DXS9859;DXS9860;DXS9861;DXS9862;DXS9863;DXS9864;DXS9865;RH79074;SHGC-36486;SRPX;SRPX_8801;WI-18588 DRS;ETX1;HEL-S-83p;SRPX1 OTTHUMP00000023141;epididymis secretory sperm binding protein Li 83p;sushi repeat-containing protein SRPX;sushi-repeat-containing protein;sushi-repeat-containing protein, X chromosome;sushi-repeat-containing protein, X-linked APPROVED protein-coding ENSG00000101955 HGNC:11309 02175 300187 VALIDATED 1350450 SRPX2 sushi-repeat containing protein, X-linked 2 This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and mental retardation. [provided by RefSeq, May 2010] X X X q21.33-q23 100417899 100445036 + 99899163 99926296 + 100644166 100671299 + 737633;6480464;7240710;8554872;8699517 12477932 11375929;11822025;15342556;15489334;15772651;16303743;16344560;16497722;17942002;18029348;18718938;19065654;19667118;20236627;20858596;209648;22242148;23115050;23933820;24179158;24700475;24995671;9864177 27286 O60687 ABBA01064144;ABBA01064145;AF060567;AF393649;AK075462;AL035608;AL390040;AMYH02040057;AMYH02040058;AU104738;BC020733;BP279501;BU625416;BX339682;CH471115;DA707631;NG_021337;NM_014467;XM_005262121 AAC15765;AAH20733;AAM73693;BAG52145;EAX02812;NP_055282;O60687;XP_005262178 Hs.306339 1341292;1694110;1704686;1848145;2170793 AL035142;DXS7762;DXS8103;DXS9763;SHGC-78996 BPP;CBPS;PMGX;RESDX;SRPUL OTTHUMP00000023653;sushi repeat-containing protein SRPX2;sushi-repeat protein up-regulated in leukemia;sushi-repeat protein upregulated in leukemia;sushi-repeat-containing protein, X-linked 2 APPROVED protein-coding ENSG00000102359 HGNC:30668 06726 300642;300643 REVIEWED 1317950 SRPK1 SRSF protein kinase 1 This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010] 6 6 6 p21.31 37355384 37443522 - 35800811 35888957 - 35833034 35921180 - 1580863;6480464 10049757;10196197;10198174;10340541;10390541;11509566;12134018;12417631;12477932;12565829;12565863;14555757;14559993;14574404;14701833;15034300;15324660;15489334;15635413;16122776;16209947;16223727;16344560;17081983;17223538;17332336;17353931;17360743;17517895;18029348;18155240;18342604;18687337;19240134;19322201;19477182;19553338;19674106;20020773;20098747;20379614;20498328;20708644;21139048;21145461;21157427;21182205;21693764;21728354;21832049;21890473;21907836;21988832;22019390;22172722;22365833;22586326;22727668;22939624;22939629;22952844;22990118;23000965;23405030;23602568;23644876;23707382;24074032;24163370;24250222;24550385;24778252;24816145;24984036;25010863;25027693;8208298;8798720;9237760;9472028 6732 B4DS61;D6RB98;D6RBF8;D6RBM8;D6RDZ3;H0Y932;H3BLV9;Q5R363;Q96SB4 ABBA01038243;ABBA01038244;ABBA01038245;ABBA01038246;AJ318054;AK292277;AK299591;AK312712;AMYH02013547;AMYH02013548;BC038292;BG772464;BX648663;BX648697;CH471081;DB233331;NG_029520;NM_003137;NR_034069;Z99128 AAH38292;BAF84966;BAG61523;CAC39299;EAX03853;EAX03854;EAX03855;EAX03856;EAX03857;EAX03858;EAX03859;EAX03860;NP_003128;Q96SB4 Hs.443861 1650144;1670080;1679009;1778157;1855989;2109885;2127759;2165664 D20S1070;D6S1160E;D6S1875;D6S2425;RH16412;RH45417;SRPK1_8644;WI-22142 SFRSK1 OTTHUMP00000016275;OTTHUMP00000016276;OTTHUMP00000222678;SFRS protein kinase 1;SR protein kinase 1;SR-protein-specific kinase 1;serine/arginine-rich protein-specific kinase 1;serine/arginine-rich splicing factor kinase 1;serine/threonine-protein kinase SRPK1 APPROVED protein-coding ENSG00000096063 HGNC:11305 15992 601939 REVIEWED 1352406 SRR serine racemase ENCODES a protein that exhibits ATP binding; L-serine ammonia-lyase activity; magnesium ion binding; INVOLVED IN D-serine biosynthetic process; D-serine metabolic process; L-serine metabolic process; PARTICIPATES IN glycine, serine and threonine metabolic pathway; FOUND IN cytoplasm; neuronal cell body; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cadmium atom; coumestrol 17 17 17 p13 2223105 2244656 + 2207244 2228553 + 2303371 2325259 + 1580863;6480464;6907045 11054547;12021263;12477932;12560076;12621583;14702039;15193426;15219883;15489334;15536068;15681805;15953485;16314870;16446740;16714286;16751776;16837850;17067558;17413455;17413456;17697119;17880399;18583979;18812225;19223009;19483194;19584346;20106978;20174558;20385472;21139048;21378990;21832049;22096510;22117694;22151352;22801410;23112234;23319000;23974872;23992455;24250222;8125298 63826 I3L3N0;I3L4B4;I3L4L3;I3L4W4;Q3ZK31;Q9GZT4;V9GYE8 ABBA01054699;ABBA01054700;ABBA01054701;AF169974;AK023169;AK223120;AL450226;AL834378;AMYH02032772;AX224418;AX880243;AY034081;AY743705;AY743706;AY743707;AY743708;BC057234;BC074728;CH471108;CR457300;GN098580;HB921024;HC978433;NM_021947;XM_006721565;XM_006721566;XM_006721567 AAG27081;AAH74728;AAK58495;AAW66460;AAW66461;AAW66462;AAW66463;BAB14442;BAD96840;CAC69570;CAD39041;CAE90864;CAG33581;CAY04175;CBF95504;CBV09024;EAW90553;EAW90554;EAW90555;NP_068766;Q9GZT4;XP_006721628;XP_006721629;XP_006721630 Hs.461954 1652759;1734426;2122304;2140500;2165600;2184645;5093600 A009S27;D17S1400E;D17S1682;G32814;HSC2GF012;IB3555;RH47913 ILV1;ISO1 D-serine ammonia-lyase;D-serine dehydratase;L-serine ammonia-lyase;L-serine dehydratase;OTTHUMP00000115699 protein-coding ENSG00000167720 HGNC:14398 10451 606477 PROVISIONAL 1312944 SRPK2 SRSF protein kinase 2 ENCODES a protein that exhibits ATP binding; magnesium ion binding; poly(A) RNA binding; INVOLVED IN intracellular signal transduction; negative regulation of viral genome replication; positive regulation of cell proliferation; FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); benzo[a]pyrene 7 7 7 q22-q31.1 99562462 99834859 - 104754048 105039614 - 105113601 105399167 - 6480464 10196197;12134018;12417631;12477932;12565863;12853948;14702039;15144186;15489334;15592455;16122776;16189514;16344560;17353931;17620599;18029348;18425142;18559500;18654987;19592491;19902070;20379614;20498328;21145461;21157427;21182205;21832049;21890473;22365833;22990118;23000965;23049088;23326445;23602568;24444330;24457600;24816145;8208298;9171351;9446799;9472028 6733 C9J2M4;C9JWF7;F8WAV6;F8WBW4;H7C521;H7C5L6;P78362 ABBA01057957;ABBA01057958;ABBA01057959;ABBA01057960;AC004884;AC005070;AC073138;AK092977;AK093420;AMYH02016468;AMYH02016469;AMYH02016470;AMYH02016471;AMYH02016472;AMYH02016473;AMYH02016474;AMYH02016475;AMYH02016476;AW086157;AY354201;BC035214;BC068547;BI918658;BM805927;BU632662;CH236947;CH471070;CR746049;DA592321;HY031357;KF458527;KF458528;NM_001278273;NM_182691;NM_182692;U88666;XM_005250549;XM_005250550;XM_005250551;XM_006716098 AAC05299;AAC29140;AAC29141;AAH35214;AAH68547;AAQ63886;AAS00352;ABM82263;ABM85445;EAW83359;EAW83360;EAW83361;NP_001265202;NP_872633;NP_872634;P78362;XP_005250606;XP_005250607;XP_005250608;XP_006716161 Hs.285197 1709730;1713543;2110761;2117319;2130415;2132662;2142374;2144162;2144164;2168518;2176355;7183705 D7S1389;D7S1656;D7S2182;D7S2731;D7S2926;RH120258;RH79016;SHGC-57147;SHGC-84676;SRPK2_8645;WI-20562 FLJ36101;SFRSK2 H_RG152G17.1a;H_RG152G17.1b;OTTHUMP00000212092;OTTHUMP00000212093;OTTHUMP00000212097;SFRS protein kinase 2;SR protein kinase 2;SR-protein-specific kinase 2;WUGSC:H_RG152G17.1a;serine kinase SRPK2;serine/arginine-rich protein-specific kinase 2;serine/arginine-rich splicing factor kinase 2;serine/threonine-protein kinase SRPK2 APPROVED protein-coding ENSG00000135250 HGNC:11306 04280 602980 VALIDATED 1322997 SRPR signal recognition particle receptor (docking protein) The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 11 11 11 q24.2 123297838 123303901 - 126132814 126138877 - 126262919 126268982 - 1580863;6480464 12477932;1312991;15489334;15592455;16169070;19199708;21139048;21988832;22797925;23246001;24255178;24778252;24816145;25027693;2827661;3021779;3340536 6734 P08240 ABBA01031226;AI422194;AK130382;AK303379;AK312377;AMYH02025745;AP001318;BC001162;BC008077;BC009110;BC013583;CH471065;CR457025;NM_001177842;NM_003139;X06272 AAH01162;AAH09110;AAH13583;ABM82402;ABM85590;BAG35295;BAG64435;CAA29608;CAG33306;EAW67684;EAW67685;EAW67686;NP_001171313;NP_003130;P08240 Hs.368376 1725575;1742545;2121376;2139852;2146541;2155695;2164674;2164676;2167868;2177209;2177408;5491288 A006D25;A007K32;D11S1237;D11S2242E;D11S4607;D11S4694;D11S4721;G20723;G62012;GDB:197863;RH18082;UniSTS:236631 DP;MGC17355;MGC3650;MGC9571 DP-alpha;OTTHUMP00000231106;OTTHUMP00000231107;SR-alpha;SRP-alpha;Sralpha;docking protein alpha;signal recognition particle receptor subunit alpha APPROVED protein-coding ENSG00000182934 HGNC:11307 01645 182180 REVIEWED 1606069 SRRD SRR1 domain containing INVOLVED IN rhythmic process (inferred); INTERACTS WITH atrazine; tert-butyl hydroperoxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 22 22 22 q12.1 10683724 10691766 + 26879850 26887904 + 26483884 26491938 + 6480464 10591208;12477932;15489334;16344560;18029348;18293417;8806657;8889548 402055 Q9NNX4;Q9UH36 ABBA01055200;AK293916;AMYH02038167;BC066962;BQ189353;CH471095;DA325985;NM_001013694;U63541;Z99714 AAF77225;AAH66962;BAG57298;CAB62929;EAW59721;NP_001013716;Q9UH36 Hs.709914 1660916;1665785;1849017;2175031 A007C16;D22S615;RH66366;STS-N30363 HC/HCC;SRR1L OTTHUMP00000198652;SRR1 domain-containing protein;SRR1-like protein;hepatocellular carcinoma complicating hemochromatosis protein-coding ENSG00000100104 HGNC:33910 18437 602254 VALIDATED 1353318 SRRM1P1 serine/arginine repetitive matrix 1 pseudogene 1 8 8 8 q24.21 124279613 124280632 - 128099755 128100775 - 127086262 127088530 - 401475 ABBA01037940;AC020688;AMYH02018751;JX003868;NG_011412 Hs.741296 1687309;1690596 RH76332;RH81049 SRRM1L;SRRM1P APPROVED pseudo HGNC:31861 INFERRED 3051030 SRRM1P2 serine/arginine repetitive matrix 1 pseudogene 2 3 3 3 84729341 84731323 + 83986207 83988189 + 83937056 83939038 + 100420834 ABBA01031073;AC092825;AMYH02007172;NG_022252 pseudo HGNC:38163 INFERRED 3102881 SRRM1P3 serine/arginine repetitive matrix 1 pseudogene 3 X X X q26.3 136429545 136431978 - 136065431 136067864 - 136983272 136985705 - 100130190 ABBA01065774;AL390879;AMYH02040585;NG_022643 1678701;2165257 DXS7821;RH26405 pseudo HGNC:38164 INFERRED 6767415 SRRM2-AS1 SRRM2 antisense RNA 1 INTERACTS WITH (+)-catechin 16 16 16 p13.3 2986646 3002166 - 2787077 2802601 - 2737076 2752600 - 14702039 100128788 Q6ZUC4 ABBA01026713;AC092117;AK056063;AK098626;AK125806;AMYH02031271;AMYH02031272;DB448439;HG507631;HG507633;HG507634;NR_027274;NR_027275 BAC86301 Hs.311208 5015861;5037552;7185938 D10S16;D8S2279 APPROVED ncrna ENSG00000205913 HGNC:44162 VALIDATED 1322619 SRRM1 serine/arginine repetitive matrix 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN gene expression (inferred); mRNA 3'-end processing (inferred); mRNA export from nucleus (inferred); PARTICIPATES IN mRNA decay pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN catalytic step 2 spliceosome; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-fluorouracil; bis(2-chloroethyl) sulfide 1 1 1 p36.11 23296748 23326926 + 24969594 24999772 + 24643103 24673281 + 1580863;6480464;6907045;8554872 10339552;10668804;10809668;10908574;11101529;11118221;11546874;11739730;11991360;11991638;12093754;12226669;12477932;12581738;12600940;12624182;12944400;15024032;15144186;15302935;15324660;15345747;15489334;15998806;16051665;16055720;16159877;16354706;16710414;16964243;17081983;17332742;17353931;19322201;19531213;19596686;20508642;21139048;21145461;21182205;21693764;21890473;21988832;22113938;22586326;22939629;22944692;22952844;22990118;23000965;23084401;23455922;23602568;24250222;24778252;9472028;9531537;9933612 10250 A9Z1X7;B4DED5;E9PCT1;M0QXG5;M0R088;M0R1E7;Q8IYB3 ABBA01059910;ABBA01059911;AF048977;AF419855;AK293576;AK302498;AK307419;AK307568;AL445648;AL445686;AMYH02000522;AMYH02000523;AMYH02000524;BC011019;BC017315;BC036187;BG720378;CH471134;CX782666;NM_005839;XM_005245717;XM_005245718;XM_005245719;XM_005245720;XM_005245721;XM_005245722;XR_241182;XR_241183 AAC09321;AAH36187;AAP97290;BAG57046;BAH13726;EAW95138;EAW95139;EAW95140;NP_005830;Q8IYB3;XP_005245774;XP_005245775;XP_005245776;XP_005245777;XP_005245778;XP_005245779 Hs.18192 1678701;1687558;1690596 RH26405;RH40469;RH76332 160-KD;MGC39488;POP101;SRM160 OTTHUMP00000003373;OTTHUMP00000003374;SR-related nuclear matrix protein of 160 kDa;Ser/Arg-related nuclear matrix protein;plenty of prolines 101-like;serine/arginine repetitive matrix protein 1 protein-coding ENSG00000133226 HGNC:16638 10441 605975 VALIDATED 1601811 SRRM3 serine/arginine repetitive matrix 3 INTERACTS WITH calcitriol; copper(2+) sulfate; testosterone 7 7 7 q11.23 70699693 70785104 + 75831211 75916609 + 76201898 76287288 + 6480464 12477932;12853948;14702039;15489334 222183 A6NNA2 ABBA01005905;ABBA01005906;ABBA01005907;ABBA01005908;ABBA01005909;ABBA01005910;ABBA01005911;ABBA01005912;AC005077;AI815474;AK092590;AK094397;AMYH02016079;AMYH02016080;AMYH02016081;AMYH02016082;AMYH02016083;BC029292;BC045627;BC063788;BC071856;BC096755;BE466083;CA502814;CA949697;KF573703;NM_001110199;NM_001291831 A6NNA2;BAC03922;BAC04346;NP_001103669;NP_001278760 Hs.511025 1693840;1699108;1732664;1769615;2126351;2133305;7184847 D7S1515;G42608;GDB:1318669;GDB:4585178;RH103130;SHGC-30726 FLJ35271;FLJ37078 OTTHUMP00000161056;SRRM2-like protein;serine/arginine repetitive matrix protein 3 APPROVED protein-coding ENSG00000177679 HGNC:26729 08219 VALIDATED 1603376 SRRM4 serine/arginine repetitive matrix 4 SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009] 12 12 12 q24.23 119052537 119234002 + 119419300 119600856 + 118981495 119163051 + 6480464;8554872 11347906;12477932;12800201;14702039;19737518;20379614;21078624;23251661;23928058;8889548 84530 A7MD48;V5T9A0 AB058756;ABBA01020067;ABBA01020068;ABBA01020069;ABBA01020070;AC084361;AC087885;AK055717;AK125400;AK291361;AMYH02027339;AMYH02027340;AY130006;BC152471;BC167162;BC167163;BM680369;CH471054;H10301;KC995185;KC995186;NM_194286 A7MD48;AAI52472;AAI67162;AAI67163;AAI67787;AAN05090;AHB60654;AHB60655;BAB47482;BAF84050;EAW98142;NP_919262 Hs.744964 1338992;1685043;1726299;2114004;2178931;5023733 AB046029;AU048745;D12S385;G62450;RH94152;STS-H10302 KIAA1853;MGC176729;MU-MB-2.76;nSR100 OTTHUMP00000239767;medulloblastoma antigen MU-MB-2.76;neural-specific SR-related protein of 100 kDa;neural-specific serine/arginine repetitive splicing factor of 100 kDa;serine/arginine repetitive matrix protein 4 APPROVED protein-coding ENSG00000139767 HGNC:29389 13897 613103 VALIDATED 1343475 SRS Snyder-Robinson X-linked mental retardation syndrome ASSOCIATED WITH Snyder Robinson syndrome (inferred) 7240710 6735 HGNC:11310 309583 2801093 SRRM5 serine/arginine repetitive matrix 5 INTERACTS WITH diazinon (ortholog); lead diacetate (ortholog); manganese(II) chloride (ortholog) 19 19 19 q13.31 40918748 40921145 + 44116253 44118650 + 43612101 43614498 + 6480464 12477932;14702039;8889548 100170229 B3KS81;Q4G0Z0 ABBA01040863;AC006276;AK093056;AMYH02036168;BC034980;BM679887;NM_001145641 AAH34980;B3KS81;BAG52643;NP_001139113 Hs.722032 FLJ35737;ZNF576 serine/arginine repetitive matrix protein 5;zinc finger protein 576, isoform 2 protein-coding ENSG00000226763 HGNC:37248 VALIDATED 1350808 SRSF10P1 serine/arginine-rich splicing factor 10 pseudogene 1 18 18 18 q21.2 45541381 45542486 - 48684648 48685754 - 51158278 51159384 - 100130799;387613 ABBA01018687;AC090330;AMYH02034713;AMYH02034714;NG_030046 FUSIP1P;HsT2687;SFRS13AP1 APPROVED pseudo HGNC:31002 INFERRED 1626567 SRSF10P2 serine/arginine-rich splicing factor 10 pseudogene 2 20 20 20 p12.3 7881949 7882670 - 7812348 7813069 - 7831701 7832422 - 11891055;23263487;23648065 171472 ABBA01053916;AL031679;AMYH02036677;NG_001017 FUSIP1P2;SFRS13AP2;dJ836E8.1;pFUSIP1 APPROVED pseudo HGNC:24823 INFERRED 8549163 SRSF11P1 serine/arginine-rich splicing factor 11 pseudogene 1 12 12 12 24605431 24606610 + 19459791 19460970 + 19306857 19308036 + 100421296 ABBA01067936;AC024902;AMYH02026131;NG_024068 pseudo HGNC:49884 INFERRED 1320904 SRRM2 serine/arginine repetitive matrix 2 ENCODES a protein that exhibits C2H2 zinc finger domain binding; poly(A) RNA binding; protein N-terminus binding; INVOLVED IN mRNA splicing, via spliceosome (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Cajal body; catalytic step 2 spliceosome; nuclear speck; INTERACTS WITH 17beta-estradiol; 2-methylcholine; benzo[a]pyrene diol epoxide I 16 16 16 p13.3 3001895 3020980 + 2802330 2821413 + 2752329 2771412 + 6480464;8554872 10668804;10908574;11004489;11991638;12477932;14578391;15144186;15231747;15302935;15324660;15345747;15489334;15616553;15778465;16051665;16055720;16083285;16159877;16565220;16964243;17081983;17332742;17353931;17577209;17620599;18029348;19471022;19531213;19596686;19608861;19615732;19789211;19854871;20161708;20467438;20508642;20811636;21139048;21145461;21182205;21252943;21693764;21832049;21890473;21906983;22113938;22190034;22365833;22586326;22939629;22952844;22990118;23084401;23398456;23443559;23602568;23752268;24250222;24457600;24583282;24816145;9205841;9531537 23524 I3L0N7;I3L182;I3L1C0;I3L1I8;I3L1W5;I3L3Q8;I3L4D8;I3L4U6;Q9UQ35 AB002322;AB015644;AB016087;AB016088;AB016089;AB016090;AB016091;AB016092;ABBA01026713;AC004493;AC092117;AF201422;AI083775;AK025579;AK025903;AL833672;AMYH02031272;AMYH02031273;BC007752;BC009062;BC020639;BC028054;BC032416;BC041155;BC046104;BC070050;BC107087;BX537511;BX647088;CH471112;HI574200;NM_016333;XM_005255225;XM_005255226;XM_005255227;XM_006720872;XM_006720873;XM_006720874;XR_243270;XR_243271;XR_429640 AAC08453;AAF21439;AAH07752;AAH09062;AAH20639;AAH41155;AAH46104;AAH70050;AAI07088;BAA20782;BAA34957;BAA83713;BAA83714;BAA83715;BAA83716;BAA83717;BAA83718;CAI46153;CBX47589;EAW85477;EAW85478;EAW85479;EAW85480;EAW85481;EAW85482;EAW85483;NP_057417;Q9UQ35;XP_005255282;XP_005255283;XP_005255284;XP_006720935;XP_006720936;XP_006720937 Hs.433343 1677648;1678479;1687177;1736552;1736564;1777628;1846674;2110763;2132171;2150458;2185534;5491685;7185401;7185597 D16S2549E;D16S2558E;D16S436E;D16S439E;D9S2087;MARC_7863-7864:996688108:1;RH92618;SHGC-61065;SHGC-61169;SHGC-61375;SRRM2_9362;STS-M78867 300-KD;CWF21;Cwc21;DKFZp667L0421;DKFZp686O15166;FLJ21926;FLJ22250;KIAA0324;MGC40295;SRL300;SRm300 300 kDa nuclear matrix antigen;RNA binding protein;SR-related nuclear matrix protein of 300 kDa;ser/Arg-related nuclear matrix protein of 300 kDa;serine/arginine repetitive matrix protein 2;serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa;splicing coactivator subunit SRm300;tax-responsive enhancer element-binding protein 803;taxREB803 protein-coding ENSG00000167978 HGNC:16639 06913 606032 VALIDATED 1350049 SRSF1 serine/arginine-rich splicing factor 1 This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014] 17 17 17 q22 52540069 52546497 - 56078280 56084707 - 58000919 58007346 - 1580863;6480464;6907045 10022843;10196197;10225947;10366588;10390541;10713112;10757789;10843177;11101529;11285240;11418604;11683387;11779509;11790298;11801589;11825891;11967326;11991638;12135490;12215544;12221105;12226669;12234937;12270705;12477932;12525645;12565863;12612063;12667464;14555757;14559993;14623875;14702039;15123677;15163745;15184380;15208309;15210956;15243141;15367627;15452250;15456888;15489334;15546619;15592455;15635413;15652350;1577277;15782174;15798186;15848144;15907217;15998806;16000324;16051665;16096057;16189514;16196087;16210245;16223727;16260492;16314458;16344560;16364913;16376875;16505493;16611940;16721827;16982639;17081983;17310252;17332742;17353931;17361132;17361185;1741384;17517895;17609381;17670832;17786225;17959926;18155240;18243119;1830244;18315555;18342604;18391021;18439897;18457437;18495665;1855257;18586677;18687337;18832178;18841201;18945764;19004959;19073146;19111562;19116412;19250906;19322201;19441081;19464723;19477182;19523114;19561594;19602482;19608861;19633418;19657567;19710015;19716452;19738201;19857271;19886675;19966273;20085707;20118245;20120036;20139984;20211142;20308322;20360068;20385090;20508642;20516191;20519389;20637698;20639865;20657585;20668893;20682707;20805487;20923760;21045158;21078624;21081666;21139048;21145461;21182205;21296756;21297941;21536904;21549307;21622622;21668763;21832049;21853274;21890473;21906983;21907836;21963094;21988832;22053931;22094256;22245967;22268729;22365833;22446626;22454513;22505724;22545246;22839530;22855529;22939629;22952844;22990118;23000965;23084401;23125841;23184937;23228155;23254330;23319613;23349975;23398456;23462647;23478443;23537643;23592547;23602568;23658645;23707382;23748175;23966470;24244333;24250222;24368769;24371231;24457600;24583282;24644279;24657165;24816145;24890719;7512732;7543047;8125298;8139654;8189522;8208298;8223481;8261509;8530103;8617202;8626563;8639538;8798720;8816452;9023367;9237760;9420331;9447963;9472028;9473574;9611241;9671816;9685421;9799243;9885563 6426 J3KSR8;J3KSW7;J3KTL2;J3QQV5;Q07955;Q59FA2 AB062124;AB209558;ABBA01041324;AC015813;AK054610;AK095112;AK126318;AK225711;AK289933;AK298527;AK312781;AMYH02033681;BC010264;BC033785;CB044653;CH471109;DA939911;HG509274;M69040;M72709;NM_001078166;NM_006924;NR_034041;XM_006722012;XR_429911;XR_429912;XR_429999;XR_430000;XR_430001;XR_430002;XR_433418;XR_433419;XR_433420;XR_433421;XR_433422 AAA03476;AAA35564;AAA35565;AAH10264;AAH33785;BAB93456;BAC86523;BAD92795;BAF82622;BAG35644;BAH12806;EAW94485;EAW94486;EAW94487;EAW94488;EAW94489;EAW94490;EAW94491;EAW94492;NP_001071634;NP_008855;Q07955;XP_006722075 Hs.68714;Hs.710026;Hs.744140 1794018;1847121;2124282;2190895;2190979 MARC_10441-10442:999637620:1;MARC_12219-12220:1004719985:1;PMC310730P5;STS-N39109;WI-18389 ASF;ASF-1;FLJ53078;MGC5228;SF2;SF2p33;SFRS1;SRp30a SR splicing factor 1;alternative-splicing factor 1;pre-mRNA-splicing factor SF2, P33 subunit;splicing factor 2;splicing factor, arginine/serine-rich 1;splicing factor, arginine/serine-rich, 30-KD, A APPROVED protein-coding HGNC:10780 02887 600812 REVIEWED 1343968 SRSF11 serine/arginine-rich splicing factor 11 This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. Alternative splicing results in multiple transcript variants encoding different proteins. In addition, a pseudogene of this gene has been found on chromosome 12.[provided by RefSeq, Sep 2010] 1 1 1 p31 68961312 69007634 + 70671365 70717703 + 70205682 70252020 + 1580863;6480464;8554872 10606266;12226669;12477932;14702039;14729963;16055720;16943417;17081983;17342744;17353931;17361132;18029348;18832053;1896467;19857271;20379614;20516191;20811636;21139048;21145461;21890473;21963094;21988832;22094256;22113938;22379092;22939629;23000965;23383273;24250222;24583282;24816145;8816452;9756848 9295 B4DTC1;B4DWT1;Q05519;Q5T757;Q5T760;S4R3C4 AB062486;ABBA01074488;AF086515;AK021742;AK300147;AK301670;AK310447;AK310666;AK311184;AL353771;AL832279;AMYH02001238;AW084230;BC002784;BC009840;BC017359;BC022815;BC032727;BC040436;BX537679;BX640645;BX641004;CH471059;M74002;NM_001190987;NM_004768;XM_005271338;XM_005271339;XM_006711037;XM_006711038;XM_006711039;XM_006711040;XM_006711041;XR_426640 AAA35554;AAH02784;AAH09840;AAH17359;AAH32727;AAH40436;BAB93511;BAG61933;BAG63143;CAE45791;CAE46007;CAI46272;EAX06458;EAX06459;NP_001177916;NP_004759;Q05519;XP_005271395;XP_005271396;XP_006711100;XP_006711101;XP_006711102;XP_006711103;XP_006711104 Hs.479693 1334854;1661682;1675927;1723999;1751899;1757553;1852514;1856875;2142023;2146347;2160608;2183646;2217966;5113482;5126069;7186790 AL009622;AL010013;D1S3538;D1S462;G34882;RH11749;RH118951;RH39850;RH45412;RH69172;RH70428;SFRS11_3927;SHGC-105818;SHGC-145019;WI-18827 DKFZp686M13204;FLJ18226;NET2;SFRS11;dJ677H15.2;p54 OTTHUMP00000010935;OTTHUMP00000010936;OTTHUMP00000010937;OTTHUMP00000010938;SR splicing factor 11;arginine-rich 54 kDa nuclear protein;splicing factor p54;splicing factor, arginine/serine-rich 11 APPROVED protein-coding ENSG00000116754 HGNC:10782 03599 602010 REVIEWED 4889751 SRSF1P1 serine/arginine-rich splicing factor 1 pseudogene 1 13 13 13 q21.33 50884226 50884831 - 69982262 69982867 - 69408130 69408735 - 100128625 ABBA01050307;AL355478;AMYH02028213;NG_011455 pseudo HGNC:39417 INFERRED 1606967 SRSF12 serine/arginine-rich splicing factor 12 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA 5'-splice site recognition; regulation of alternative mRNA splicing, via spliceosome; cytoplasmic transport (ortholog); FOUND IN nucleoplasm (ortholog); INTERACTS WITH copper(2+) sulfate; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 q15 90223565 90245681 - 89805678 89827800 - 89095959 89118081 - 6480464 11684676;12477932;14702039;15342556;15489334;20516191;22094256;23084401;23602568 135295 B3KVR7;E5RFT0;E5RJS0;Q8WXF0 AA889416;ABBA01040524;ABBA01040525;AF449428;AK090803;AK123215;AK314008;AL353135;AMYH02014074;BC021715;BP244338;CH471051;NM_080743;XM_006715348 AAH21715;AAL57515;ABM82996;ABM86189;BAG36719;BAG53879;EAW48561;EAW48562;NP_542781;Q8WXF0;XP_006715411 Hs.254414 FLJ14459;FLJ33484;FLJ41221;RP11-63L7.3;SFRS13B;SFRS19;SRrp35 35 kDa SR repressor protein;OTTHUMP00000016846;SR splicing factor 12;serine-arginine repressor protein (35 kDa);splicing factor, arginine/serine-rich 13B;splicing factor, arginine/serine-rich 19 APPROVED protein-coding ENSG00000154548 HGNC:21220 11605 VALIDATED 1322327 SRSF10 serine/arginine-rich splicing factor 10 This gene product is a member of the serine-arginine (SR) family of proteins, which are involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1 and RNP2 motifs, which are required for binding to RNA, and multiple C-terminal SR/RS repeats, which are important in mediating association with other cellular proteins. This protein interacts with the oncoprotein TLS, and abrogates the influence of TLS on adenovirus E1A pre-mRNA splicing. This gene has pseudogenes on chromosomes 4, 9, 14, 18, and 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 p36.11 22623642 22637667 - 24292935 24306953 - 23966445 23980463 - 1580863;6480464;6907045 10583508;10779324;11684676;11790298;11891055;12419250;12477932;14559993;14702039;14765198;15302935;15324660;15489334;15778465;16135820;17081983;17207965;17353931;17361132;17936706;20232416;20516191;21135127;21139048;21145461;21984158;22113938;22365833;22939629;22990118;23084401;23125841;23166591;23251661;24163370;24250222;24457600;24550385;8125298;8619474;9110174;9774382 10772 B3KNY6;O75494;Q5JRI1;Q6IQ42;R4GMP8 AA808243;ABBA01059894;AF047448;AF067730;AF419331;AF419332;AF449427;AK001286;AK001479;AK001656;AK054635;AK055311;AK093226;AK125834;AK222994;AK296175;AL133655;AL590609;AMYH02000516;AX876414;AX877218;AX971644;AY007101;AY048592;AY150180;AY150181;BC001107;BC005039;BC010074;BC071575;BX511012;BX648939;CH471134;NM_001191005;NM_001191006;NM_001191007;NM_001191009;NM_001300936;NM_001300937;NM_006625;NM_054016;NR_034035;XM_006710298;XM_006710299;XM_006710300;XM_006710301 AAC26727;AAC70918;AAH01107;AAH05039;AAH10074;AAH71575;AAL06098;AAL06099;AAL16665;AAL16666;AAL57514;AAN65380;AAN65381;ADQ33177;BAA91601;BAD96714;BAG50956;BAG51498;BAG54253;BAG58911;CAE89263;CAE89624;CAF16752;EAW95103;EAW95104;EAW95105;EAW95106;EAW95107;NP_001177934;NP_001177935;NP_001177936;NP_001177938;NP_001287865;NP_001287866;NP_006616;NP_473357;O75494;XP_006710361;XP_006710362;XP_006710363;XP_006710364 Hs.3530 1848790;2150607;2175749;5014039;5015619;5015881;5015961;5016478;5022047;5022425;5024756;5037552 D11S3114;D15S1477;D1S2514;D20S621;D22S1584;D22S296;D8S2279;Fusip1;GDB:335751;GDB:434012;HUM00TW133;RH80030 DKFZp686H0644;FLJ30749;FLJ43846;FUSIP1;FUSIP2;NSSR;PPP1R149;SFRS13;SFRS13A;SRp38;SRrp40;TASR;TASR1;TASR2 40 kDa SR-repressor protein;FUS interacting protein (serine-arginine rich) 1;FUS-interacting protein (serine-arginine rich) 2;FUS-interacting serine-arginine-rich protein 1;OTTHUMP00000015773;OTTHUMP00000015774;OTTHUMP00000015775;OTTHUMP00000015776;OTTHUMP00000015777;OTTHUMP00000015778;SR splicing factor 10;TLS-associated SR protein;TLS-associated protein TASR;TLS-associated protein with SR repeats;TLS-associated protein with Ser-Arg repeats;TLS-associated serine-arginine protein 1;TLS-associated serine-arginine protein 2;neural-salient SR protein;serine-arginine repressor protein (40 kDa);splicing factor SRp38;splicing factor, arginine/serine-rich 13;splicing factor, arginine/serine-rich 13A APPROVED protein-coding ENSG00000188529 HGNC:16713 05562 605221 REVIEWED 1350526 SRSF4 serine/arginine-rich splicing factor 4 This gene encodes a member of the arginine/serine-rich splicing factor family. The encoded protein likely functions in mRNA processing. [provided by RefSeq, Feb 2009] 1 1 1 p35.3 27870392 27904789 - 29474250 29508637 - 29147738 29182125 - 1580863;6480464;6907045;8554872 10390541;10983978;12226669;12477932;12581738;14559993;14578391;14623875;15009664;15489334;15592455;15761153;1577277;16159877;16169070;16189514;16710414;17081983;17267499;17332742;17361132;17361185;18272582;19608861;19759008;19857271;20508642;20516191;20685659;21139048;21145461;21252943;21723381;21890473;21988832;22365833;22446626;22586326;22939629;22990118;23000965;23084401;23125841;23602568;23667531;24250222;7651409;8125298;8208298;8321209;9447963;9531537 6429 Q08170;S4R2X6 AB209856;ABBA01035078;ABBA01035079;AC004236;AK223444;AK291509;AK293706;AK310528;AL357500;AL590729;AMYH02000645;BC002781;BT007415;CH471059;CV814357;DC391985;L14076;NM_005626;XM_006710815;XM_006710816 AAA36649;AAC04476;AAH02781;AAP36083;ABM84772;BAD93093;BAD97164;BAF84198;BAG57139;EAX07657;EAX07658;EAX07659;NP_005617;Q08170;XP_006710878;XP_006710879 Hs.469970 1653558;1663437;1846956;2116588;2144006;5015621;5015961;5021872;5022200 A009X34;D11S3732;D15S1477;D1S2417;L18426;RH17621;SGC33616;SHGC-74500;sY3084 SFRS4;SRP75 OTTHUMP00000003790;SR splicing factor 4;SRP001LB;pre-mRNA-splicing factor SRP75;splicing factor, arginine/serine-rich 4 APPROVED protein-coding ENSG00000116350 HGNC:10786 09052 601940 REVIEWED 734021 SRSF5 serine/arginine-rich splicing factor 5 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2010] 14 14 14 q24 50297941 50302834 + 70233812 70238722 + 69767095 69772005 + 729792;1580863;6480464;6907045 7686911 10390541;10983978;12226669;12477932;12665590;12762840;14559993;14623875;14759258;15123677;15163745;15302935;15489334;15761153;1577277;15840729;16000324;16103121;16169070;16429130;16990281;17081983;17332742;18029348;18624398;19004959;19843576;19857271;20360068;20376328;20427542;20508642;20516191;21139048;21145461;21182205;21890473;21900206;21906983;21907836;22053931;22100336;22205602;22365833;22586326;22863883;22933280;22939629;22990118;23000965;23084401;23254330;23602568;24457600;24816145;7556075;8208298;8619474;9110174;9244433;9434190;9472028;9531537;9799243 6430 B4DJK0;B4DUA4;G3V5K8;Q13243;Q86U32 AA640719;AB209804;AB451250;AB451374;ABBA01030825;AF020307;AF070562;AK296113;AK300560;AK311805;AL157789;AMYH02029438;BC018823;BC029984;BC040209;BC095420;BF213008;BT007089;BU928782;BX247988;BX640605;CH471061;CR542167;CR542182;NM_001039465;NM_006925;U30826;U30827;U30884;XM_005267998;XM_005267999;XM_005268000;XM_005268001;XR_429326;XR_429327 AAA93070;AAA93074;AAB60405;AAC39543;AAH18823;AAH40209;AAP35752;BAD93041;BAG34748;BAG58862;BAG62266;BAG70064;BAG70188;CAD62322;CAE45711;CAG46964;CAG46979;EAW81002;EAW81003;EAW81004;EAW81005;EAW81006;EAW81007;EAW81008;EAW81009;EAW81010;NP_001034554;NP_008856;Q13243;XP_005268055;XP_005268056;XP_005268057;XP_005268058 Hs.632326 1645779;1847998;1848000;1856566;1857907;2132791;2174107;5015619;5021872;5037552 A001W22;D11S3114;D14S1316;D8S2279;G19714;G31139;HSC2JH112;RH66199;SHGC-35665;sY3084 HRS;SFRS5;SRP40 OTTHUMP00000245517;OTTHUMP00000245518;OTTHUMP00000245519;OTTHUMP00000245520;SR splicing factor 5;delayed-early protein HRS;pre-mRNA-splicing factor SRP40;splicing factor, arginine/serine-rich 5 APPROVED protein-coding ENSG00000100650 HGNC:10787 600914 REVIEWED 1342668 SRSF6 serine/arginine-rich splicing factor 6 The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 2010] 20 20 20 q12-q13.1 38793993 38799734 + 42086504 42092245 + 43457864 43463605 + 1580863;6480464;6907045 10092085;10340541;10757789;10809668;10983978;11549316;11780052;12226669;12477932;12531473;12549914;12549978;12779084;14559993;15009664;15302935;15489334;15635413;1577277;16159877;16189514;16341674;17081983;17332742;17353931;17361132;18029348;18315555;18571879;18854154;19165527;19322201;19608861;19710015;19857271;19913121;20020773;20360068;20427542;20516191;20628086;20685659;21044950;21139048;21145461;21182205;21345357;21832049;21890473;21906983;22365833;22446626;22505724;22516966;22767602;22863883;22939629;22990118;23000965;23084401;23132731;23398456;23602568;23648111;24337577;24440982;24457600;24583282;7556075;7651409;8208298;9436904;9472028;9649504;9671816 6431 Q13247;Q59GY3 AB208976;AB451251;AB451375;ABBA01052615;ABBA01052616;AK291203;AK300411;AL031681;AL110214;AMYH02037112;AV704620;BC006832;BM788391;BM830876;CH471077;DC306805;EU668347;NG_029906;NM_006275;NR_034009;U30828;U30883 AAA93071;AAA93073;AAH06832;ACF94500;BAD92213;BAF83892;BAG70065;BAG70189;BAH13279;EAW75964;EAW75965;EAW75966;EAW75967;NP_006266;Q13247 Hs.725336 2108461;2148271;2168692;2174174;2176429 NIB331;RH18029;RH47503;SFRS6_8615;SGC32867 B52;FLJ08061;HEL-S-91;MGC5045;SFRS6;SRP55 OTTHUMP00000031020;SR splicing factor 6;arginine/serine-rich splicing factor 6;epididymis secretory protein Li 91;pre-mRNA splicing factor SRP55;pre-mRNA-splicing factor SRP55;splicing factor, arginine/serine-rich 6;splicing factor, arginine/serine-rich, 55 kDa APPROVED protein-coding ENSG00000124193 HGNC:10788 09054 601944 REVIEWED 1316615 SRSF7 serine/arginine-rich splicing factor 7 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] 2 2 2 p22.1 38811778 38819677 - 38970741 38978636 - 38743599 38751494 - 1580863;6480464;6907045 11096110;12221105;12226669;12477932;12501247;14559993;14684736;14702039;15009664;15123677;15146077;15169763;15184380;15210956;15302935;15489334;15907217;15998806;16051665;16055720;16159877;17036044;17081983;17137791;17332742;17353931;17513303;18029348;18160415;18624398;19165527;19531213;19596686;19608861;19854136;19857271;20020773;20227104;20516191;20857263;21139048;21145461;21182205;21215488;21319273;21755018;21890473;21906983;21907836;22053931;22094256;22178446;22505724;22677170;22939629;22990118;23000965;23084401;23125841;23398456;23443559;23602568;24457600;24657165;25015289;7629084;8013463;8125298;8871564;9685386 6432 C9JAB2;F8WEA1;H7BZZ6;H7C1N1;Q16629 AB445102;ABBA01075016;AC074366;AF055270;AK091425;AK225141;AK293667;AK297161;AMYH02003631;AY166860;AY513287;BC000997;BC017369;BC017908;BC022328;BT006745;CH471053;CQ834656;DC358626;L22253;L41887;NM_001031684;NM_001195446;XM_005264484;XM_005264485;XM_005264486;XR_426994 AAA35495;AAA88098;AAF00003;AAH00997;AAH17369;AAH17908;AAH22328;AAN87842;AAP35391;AAT08040;AAX93102;BAC03661;BAG57113;BAG59658;BAI99737;CAH05543;EAX00363;EAX00364;EAX00365;EAX00366;NP_001026854;NP_001182375;Q16629;XP_005264541;XP_005264542;XP_005264543 Hs.309090 1797178;2144825;2149956;2152631;2220010 A004M37;A004S39;RH12220;SFRS7;SFRS7__5391 9G8;AAG3;SFRS7 OTTHUMP00000128261;OTTHUMP00000203931;OTTHUMP00000203974;SR splicing factor 7;aging-associated protein 3;splicing factor 9G8;splicing factor, arginine/serine-rich 7;splicing factor, arginine/serine-rich 7, 35kDa APPROVED protein-coding ENSG00000115875 HGNC:10789 08991 600572 REVIEWED 1343626 SRSF2 serine/arginine-rich splicing factor 2 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010] 17 17 17 q25.1 71322570 71325785 - 74730197 74733493 - 76734115 76737411 - 1580863;6480464;6907045;8554872 10082253;10757789;10893273;10908574;10983978;11090190;11101529;11101696;11239462;11313942;11448987;11683387;11683997;11779509;11790298;11967326;11980906;11991645;12226669;12239324;12477932;12565890;12665590;12799190;12837281;1373910;14559993;1465383;14684736;14702039;14703516;15123677;15184380;15208309;15302935;15489334;15511225;1557353;15652350;1577277;15798186;15798212;15907217;15988025;15998806;16052631;16159877;16344560;16713569;16761280;16964243;16990281;17081983;17332742;17353911;17353931;17361185;18025108;18586677;18806759;18976975;19005234;19177009;19608861;19648116;19843576;19857271;20085707;20360068;20516191;20547768;20580447;20615469;20703835;21139048;21145461;21157427;21182205;21333649;21890473;21906983;21907836;21963094;22094256;22113938;22140111;22238327;22323480;22365833;22389253;22431577;22505724;22586326;22863587;22919025;22932795;22939629;22968464;22990118;23000965;23065512;23084401;23280334;23335386;23518498;23602568;23660863;23776548;24115220;24173428;24244333;24457600;24792892;24796269;3031469;7543047;7546906;8125298;8139654;8261509;8302870;8361546;8530103;8816452;9237760;9358160;9447963;9472028;9473574;9513048;9541613;9601515;9774382 6427 J3KP15;J3QL05;Q01130;Q53FN0 ABBA01028731;AC005837;AK092489;AK093626;AK097069;AK098209;AK123712;AK124792;AK126432;AK223252;AMYH02034021;BC000339;BC001303;BC066958;BC070086;BT007250;CH471099;CQ859722;DA513281;DC361254;EB388696;L03693;M90104;NG_032905;NM_001195427;NM_003016;NR_036608;X62447;X75755;XR_429913;XR_429914 AAA60162;AAA60306;AAH00339;AAH01303;AAH66958;AAH70086;AAP35914;ABM82136;ABM85319;BAC03903;BAC04206;BAD96972;BAG53419;BAG53593;BAG53944;BAG54097;BAG54327;CAA44307;CAA53383;CAH25911;EAW89439;EAW89440;EAW89441;EAW89442;EAW89443;EAW89444;EAW89445;EAW89446;EAW89447;EAW89448;NP_001182356;NP_003007;Q01130 Hs.584801 1663857;1767713;1852762;2167324;5105599 A004Z40;D4S2570E;RH11488;SHGC-12848;SHGC-132110 PR264;SC-35;SC35;SFRS2;SFRS2A;SRp30b SR splicing factor 2;splicing component, 35 kDa;splicing factor SC35;splicing factor, arginine/serine-rich 2 APPROVED protein-coding ENSG00000161547 HGNC:10783 02888 600813 REVIEWED 1604811 SRRT serrate, RNA effector molecule ENCODES a protein that exhibits poly(A) RNA binding; DNA binding (ortholog); INVOLVED IN primary miRNA processing; cell proliferation (ortholog); neuronal stem cell maintenance (ortholog); FOUND IN cytoplasm (ortholog); nucleoplasm (ortholog); INTERACTS WITH 17beta-estradiol; 2-methylcholine; aflatoxin B1 7 7 7 q21 95203280 95216866 + 100472701 100486285 + 100875079 100888664 + 6480464 10069470;11230166;11239002;12477932;12690205;12869526;15009096;15302935;15345747;15489334;15998806;16169070;16344560;16964243;17081983;17332742;17353931;17500595;17672918;18086880;18654987;18854154;19471022;19546234;19632182;20020773;20639392;21139048;21145461;21832049;21890473;21906983;21988832;22053931;22079093;22113938;22213145;22244333;22266860;22365833;22446626;22505724;22863883;22939629;22990020;23000965;23022380;23402259;24337577;24457600;24639526;24778252;24816145;25027693 51593 C9JUL9;H7C0U8;H7C1K0;H7C3A1;Q9BXP5 ABBA01013176;AC011895;AF082871;AF112994;AF237614;AF248955;AF312032;AK296131;AK302820;AK311728;AL096723;AMYH02016392;AW770857;BC000082;BC069249;BC109116;BC109117;BE247268;BE297447;BF515651;BG477711;BG685713;BQ059529;CH236956;CH471091;DA611314;KF459632;NM_001128852;NM_001128853;NM_001128854;NM_015908;XM_005250405;XM_005250406;XM_005250407;XM_005250408;XM_006716023 AAD17774;AAG24951;AAH00082;AAH69249;AAI09118;AAK21005;AAK21006;AAM00189;AAP97227;BAG58876;BAG64018;CAB46374;EAL23815;EAL23816;EAW76465;EAW76466;EAW76467;NP_001122324;NP_001122325;NP_001122326;NP_056992;Q9BXP5;XP_005250462;XP_005250463;XP_005250464;XP_005250465;XP_006716086 Hs.111801 1664660;1667972;1673320;1853935;2135342;2166527;5123110 A002D09;GDB:4585149;GDB:4585547;GDB:4585581;RH18532;SHGC-30159;WI-20788 ARS2;ASR2;MGC126427 OTTHUMP00000211333;OTTHUMP00000211334;OTTHUMP00000211335;OTTHUMP00000211336;arsenate resistance protein 2;arsenate resistance protein ARS2;arsenite resistance protein;arsenite-resistance protein 2;serrate;serrate RNA effector molecule homolog APPROVED protein-coding ENSG00000087087 HGNC:24101 10665 614469 VALIDATED 1353282 SRSF9P1 serine/arginine-rich splicing factor 9 pseudogene 1 21 21 21 q22.12 22865535 22866496 - 37667129 37668090 - 36294831 36295792 - 10830953 54021 ABBA01057391;AMYH02037777;AP000692;AP001725;NG_000902 SFRS9P1 APPROVED pseudo HGNC:10792 INFERRED 1602725 SRSF8 serine/arginine-rich splicing factor 8 This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 11 11 11 q22 92087872 92092210 + 94800041 94804387 + 95066877 95071224 + 6480464;6907045 11058868;12477932;14559993;14702039;16344560;17361132;17361185;18281098;19322201;20516191;21832049;21890473;21906983;21963094;22505724;23000965;23084401;23398456;23463506;23602568;24457600;9671500 10929 Q9BRL6 ABBA01040020;AF031165;AF031166;AJ270685;AK023379;AK312514;AMYH02025374;AP001264;AX880456;BC057783;CB215027;CH471065;CV805885;DA723253;DA882851;FP929014;KF510392;NM_032102;NR_103726;XR_428967 AAH57783;AAK54350;AAK54351;BAG35415;BAG51186;CAE90956;EAW66954;EAW66955;EAW66956;NP_115285;Q9BRL6 Hs.476680;Hs.703293 1657905;1663857;1730191;1733304;2109883;5015619;5037552;5118877;7184790 A004Z40;D11S1927;D11S3114;D11S3745;D11S953E;D8S2279;RH69465;SRP46_9197 DSM-1;SFRS2B;SRP46 SR splicing factor 8;pre-mRNA-splicing factor SRP46;splicing factor SRp46;splicing factor, arginine/serine-rich 2B;splicing factor, arginine/serine-rich, 46kD APPROVED protein-coding ENSG00000263465 HGNC:16988 04466 603269 REVIEWED 1316466 SRXN1 sulfiredoxin 1 ENCODES a protein that exhibits oxidoreductase activity, acting on a sulfur group of donors; INVOLVED IN response to oxidative stress; FOUND IN cytosol; INTERACTS WITH (E)-cinnamyl alcohol; 1-chloro-2,4-dinitrobenzene; 17beta-estradiol 20 20 20 p13 722084 728715 - 627259 634014 - 646615 653370 - 6480464 11076863;11181995;11230166;11780052;12477932;15448164;15489334;15489336;15590625;15952770;16381901;16565085;16818657;17176052;18172504;18579529;18593714;19027064;19057013;19561357;19812042;20718723;21487000;21742584;21800051;21943684;22086924;22879602;22934964;22939629;22964583 140809 Q9BYN0 ABBA01053753;AF075053;AK098418;AK127435;AK312054;AL121758;AL833944;AMYH02036559;AY427953;BC017001;BC032604;BC047707;BU170568;CH471133;NM_080725 AAH17001;AAH32604;AAH47707;AAR87853;BAC05302;BAG34990;CAD38799;CAL38018;CAL38719;NP_542763;Q9BYN0 Hs.516830 1677885;2116288;2172837;5092742 A005W30;G32301;RH80952;Z94622 C20orf139;FLJ43353;Npn3;SRX;SRX1;YKL086W;dJ850E9.2 OTTHUMP00000029936;chromosome 20 open reading frame 139;sulfiredoxin 1 homolog;sulfiredoxin-1 APPROVED protein-coding ENSG00000271303 HGNC:16132 12747 VALIDATED 1319864 SRSF9 serine/arginine-rich splicing factor 9 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two pseudogenes, one on chromosome 15 and the other on chromosome 21, have been found for this gene. [provided by RefSeq, Sep 2010] 12 12 12 q24.31 120534186 120542273 - 120899471 120907558 - 120461668 120469755 - 1580863;6480464;6907045 10022843;10196175;10823932;11118435;11694584;11790298;11875052;12024014;12226669;12477932;12604611;12738786;14559993;15009090;15009664;15302935;15489334;15695522;16541075;16964243;17081983;17332742;17540466;17548433;17643375;18029348;18534987;19322201;19523114;19557313;19738201;19857271;20376328;20516191;21139048;21145461;21697349;21832049;21890473;21906983;21963094;21988832;22053931;22174317;22178073;22178446;22205602;22365833;22505724;22623428;22939629;22990118;23000965;23084401;23151878;23592547;23602568;24244333;24250222;24457600;24816145;7556075;9671816;9685386 8683 H0YIB4;Q13242;S4R3G0 AA845918;ABBA01020121;ABBA01020122;AI005398;AK290644;AK294254;AL021546;AMYH02027375;BC093971;BC093973;BU786332;CH471054;NM_003769;U30825;U87279 AAA93069;AAD00626;AAH93971;AAH93973;BAF83333;BAG57550;EAW98194;NP_003760;Q13242 Hs.706889;Hs.744094 1685602;1687463;1847358;2108463;2127651;2176117;2176119 A002B13;Cda16c02;G19881;RH44493;RH80576;SFRS9_8845;STS-W73277 SFRS9;SRp30c OTTHUMP00000045455;SR splicing factor 9;pre-mRNA-splicing factor SRp30C;splicing factor, arginine/serine-rich 9 APPROVED protein-coding ENSG00000111786 HGNC:10791 09053 601943 REVIEWED 1347853 SS18L2 synovial sarcoma translocation gene on chromosome 18-like 2 Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002] 3 3 3 p21 42572703 42576900 + 42623332 42636490 + 42590806 42594998 + 6480464 11435705;12477932;15489334;21906983;22505724;24250222 51188 Q9UHA2 ABBA01024768;AC092047;AF201950;AI027415;AK312225;AMYH02006629;AX972379;BC017804;BC020444;CH471055;DR158587;NM_016305 AAF17242;AAH17804;ABM82891;ABW03464;BAG35158;CAF17487;EAW64657;EAW64658;NP_057389;Q9UHA2 Hs.534454 1712314;1778959;1855442 D3S4204;G54066;RH18290 KIAA-iso OTTHUMP00000162605;SS18-like protein 2;SYT homolog 2 APPROVED protein-coding ENSG00000008324 HGNC:15593 09399 606473 VALIDATED 7205295 SS18L2P2 synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 2 18 18 18 q21.2 45803100 45803683 - 48947024 48947607 - 51420654 51421237 - 724101 ABBA01018690;AC109315;AMYH02034716;NG_005609 pseudo HGNC:44966 INFERRED 7205017 SS18L2P1 synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 1 10 10 10 p11.21 34929465 34930483 + 35164089 35165153 + 34875161 34876225 + 646213 ABBA01033351;AL450337;AMYH02022608;NG_005608 1712314 G54066 pseudo HGNC:44965 INFERRED 1344848 SSAV1 simian sarcoma-associated virus 1/gibbon ape leukemia virus-related endogenous retroviral element 1 10072578;9226372 6739 Y10937 HGNC:11314 182090 1345361 SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1 This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] 20 20 20 q13.3 57453993 57492739 + 60718816 60757566 + 62143765 62182510 + 1580863;6480464;8554872 11435705;11780052;12477932;12696068;14716005;15489334;15866867;16189514;16484776;18331714;19081374;19615732;19724895;19851296;20198315;20211142;21145461;22371557;23708140;24360741;24457600;24722188;9734811 26039 B4DSR7;H0YDW4;O75177;Q9BR54 AB014593;ABBA01040104;ABBA01040105;AK125656;AK291485;AK299881;AK308765;AL078633;AMYH02037414;AMYH02037415;AMYH02037416;AY203931;BC034494;BC068993;BX640848;CH471077;DC375156;NG_034255;NM_001301778;NM_198935;NR_125980;NR_125981;XM_005260389;XM_005260391;XM_006723771 AAH34494;AAH68993;AAP34454;ABM81834;ABW03300;BAA31668;BAF84174;BAG54230;BAG61729;CAE45918;EAW75389;EAW75390;EAW75391;EAW75392;EAW75393;EAW75394;EAW75395;EAW75396;NP_001288707;NP_945173;O75177;XP_005260446;XP_005260448;XP_006723834 Hs.154429 1661110;1682611;2158301;2169834;2169836;5015961;5022322 A006G17;D11S2560;D15S1477;D20S1024;G20785;RH28300;RH44827 CREST;KIAA0693;LP2261;MGC26711;MGC78386 OTTHUMP00000031468;SS18-like protein 1;SYT homolog 1;calcium-responsive transactivator APPROVED protein-coding ENSG00000184402 HGNC:15592 09398 606472 REVIEWED 1346358 SSAV1L simian sarcoma-associated virus 1-like/gibbon ape leukemia virus-related endogenous retroviral element 1-like 1602831 6740 HGNC:11315 1319459 SRSF3 serine/arginine-rich splicing factor 3 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010] 6 6 6 p21 38117136 38127290 + 36562090 36572244 + 36594313 36604467 + 6480464;6907045;8554872 10390541;10757789;10809668;10809782;10823932;11336712;11790298;11991645;12226669;12477932;12634307;12890497;14559993;14702039;15169763;15231747;15324660;15489334;1577277;15827065;16159877;16341674;16713569;17028590;17036044;17081983;17183366;17267499;17332742;17353931;17643375;18945760;18952824;18974867;19047369;19250906;19602482;19738201;19857271;19928837;20085707;20227104;2030943;20376328;20508642;20516191;20639886;20810723;20856201;21139048;21145461;21151833;21179588;21182205;21611201;21779168;21832049;21890473;21906983;21907836;22205602;22365833;22505724;22586326;22623141;22777358;22788679;22921020;22939629;23000965;23084401;23151878;23233666;23255796;23383273;23398456;23443559;23463506;23503458;23602568;23711097;23830997;24190014;24190040;24244333;24284797;24321384;24457600;24550385;24816145;25015289;8208298;9420331;9447963;9472028;9647638 6428 B2R6F3;P84103 AB451229;AB451352;ABBA01038263;AF107405;AK091927;AK095580;AK304097;AK310317;AK312553;AMYH02013558;BC000914;BC069018;BM833102;BT007017;CH471081;DC398250;L10838;NM_003017;NR_036610;Z85986 AAA36648;AAD44523;AAH00914;AAH69018;AAP35663;BAG35450;BAG65003;BAG70043;BAG70166;EAX03898;EAX03899;EAX03900;EAX03901;EAX03902;EAX03903;NP_003008;P84103 Hs.405144 1648779;1656520;1769634;1798150;1813230;2140386;2177453;2181515 D6S1788;ECD07635;RH18481;RH78275;SFRS3_1875;STS-H70468;STS-L10838;WI-11748 SFRS3;SRp20 OTTHUMP00000016294;pre-mRNA-splicing factor SRP20;splicing factor, arginine/serine-rich 3;splicing factor, arginine/serine-rich, 20-kD APPROVED protein-coding HGNC:10785 04530 603364 REVIEWED 1344325 SSBP2 single-stranded DNA binding protein 2 SSBP2 is a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010] 5 5 5 q14.1 76620182 76950770 - 80713179 81047072 - 81417360 81751253 - 1580863;6480464;8554872 10931946;11042152;11230166;11256614;12079286;12477932;14702039;15489334;15782145;16189514;16344560;16407974;17311003;17437998;18330356;18559593;18618714;19287380;19497860;19658100;19683501;20379614;20603019;20658532;21079607;21988832;22094256;22472174;23824909;24816145 23635 D6RAC5;H0Y9M5;H0Y9V4;P81877 AA013030;ABBA01062055;ABBA01062056;ABBA01062057;ABBA01062058;ABBA01062059;ABBA01062060;AC010623;AC016562;AC026419;AC093250;AC247057;AF077048;AF161465;AK074537;AK293544;AK294864;AK297494;AK299858;AK312337;AL080076;AMYH02011684;AMYH02011685;AMYH02011686;AMYH02011687;AMYH02011688;AY026275;BC017020;BI517313;BX397789;BX413405;CH471084;CR936787;DA202987;KC877018;NM_001256732;NM_001256733;NM_001256734;NM_001256735;NM_001256736;NM_012446 AAD27781;AAF29080;AAH17020;AAK15803;ABM82546;ABM85738;ABW03393;ACE86564;ACE87246;BAC11046;BAG35258;BAH11528;BAH11905;BAH12593;BAH13151;CAB45699;EAW95877;EAW95878;EAW95879;EAW95880;NP_001243661;NP_001243662;NP_001243663;NP_001243664;NP_001243665;NP_036578;P81877 Hs.102735 1657265;1684738;1700442;1718005;1847338;2124851;2135608;2144057;2144363;5093772 A009W20;D5S1464;G32914;RH103842;RH122619;RH36416;RH80893;SHGC-34817;SHGC-36036;STS-H60055 DKFZp686F03273;HSPC116;SOSS-B2 OTTHUMP00000147579;OTTHUMP00000222367;OTTHUMP00000222368;OTTHUMP00000222369;OTTHUMP00000222370;OTTHUMP00000222371;OTTHUMP00000222372;sequence-specific single-stranded-DNA-binding protein 2;single-stranded DNA-binding protein 2 APPROVED protein-coding ENSG00000145687 HGNC:15831 09577 607389 VALIDATED 731988 SSBP3 single stranded DNA binding protein 3 ENCODES a protein that exhibits single-stranded DNA binding (inferred); INVOLVED IN head morphogenesis (inferred); hematopoietic progenitor cell differentiation (inferred); midbrain-hindbrain boundary initiation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); protein complex (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); arsenous acid 1 1 1 p32.3 52979826 53159767 - 54691104 54872068 - 54225431 54406395 - 6480464;8554872 10524251;12079286;12381786;12477932;14702039;15489334;16325762;16407974;17207965;18080319;18330356;19497860;20211142;20379614;20603019;21832049;21906983;23275444;24722188;24816145;7566098 23648 E9PK49;Q5T863;Q9BWW4;Q9NW25 ABBA01074725;ABBA01074726;AF086085;AF500116;AI565975;AK001217;AK093975;AK289474;AL035415;AL161644;AL354778;AL519196;AMYH02001046;AMYH02001047;AMYH02001048;AMYH02001049;AMYH02001050;AMYH02001051;AMYH02001052;AY026310;BC003605;BC004335;BC066365;BC127866;BF060746;BQ051652;CH471059;DN602300;NM_001009955;NM_018070;NM_145716;XM_005270713;XM_006710545 AAH03605;AAH04335;AAH66365;AAI27867;AAK21984;AAK21985;AAM22101;ADQ32614;BAA91561;BAF82163;EAX06688;EAX06689;EAX06690;EAX06691;EAX06692;EAX06693;NP_001009955;NP_060540;NP_663768;Q9BWW4;XP_005270770;XP_006710608 Hs.476706;Hs.658676 1649555;1650503;1651980;1654930;1662013;1681907;1692248;1703216;1772255;1776102;1779794;1853157;2106647;2117204;2117206;2121928;2157704;2159596 A005Q36;A008B22;AL009798;AL033786;D1S3134;G20421;GDB:1318452;RH69813;RH70403;RH79748;SGC32284;SHGC-153764;SHGC-58180;SHGC-74834;SHGC-74857;SSBP3__5320;STS-T49250;STS-Z40052 CSDP;FLJ10355;SSDP;SSDP1 OTTHUMP00000009976;OTTHUMP00000009977;OTTHUMP00000009979;OTTHUMP00000232142;OTTHUMP00000232143;sequence-specific single-stranded-DNA-binding protein;single-stranded DNA-binding protein 3 protein-coding ENSG00000157216 HGNC:15674 09578 607390 VALIDATED 1323627 SS18 synovial sarcoma translocation, chromosome 18 ENCODES a protein that exhibits ligand-dependent nuclear receptor transcription coactivator activity; INVOLVED IN positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Sarcoma, Synovial; FOUND IN cytoplasmic microtubule (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; all-trans-retinoic acid 18 18 18 q11.2 20410686 20485111 - 23596217 23671176 - 26016253 26091212 - 1599184;1580863;6480464 7951320 10072425;11030627;11274403;11308259;11368913;11423977;11591653;11734557;12037676;12477932;12878157;14603256;15489334;15919756;16152617;16223726;16227627;16247461;16462762;16484776;17018603;17101797;17667940;17721327;18234968;18714179;18992642;18997619;19081178;19322201;19337376;19385976;19649286;19936258;20198325;20305087;20360068;20660338;20936779;21145461;21234732;21996728;22439931;22442726;22594313;22976541;23251661;23540691;23585552;23716114;24022186;24024966;24130893;24922679;7495284;8152806;9285794 6760 B4DLD3;B4DR34;B4E2J6;F5GWN1;J3KRP6;J3KT22;J3KT74;J3QLJ7;J3QQM2;J3QQW2;J3QQW6;J3QQX5;J3QS72;J3QSB3;J3QSG1;Q15532;Q4VAX0;X6R3J2 ABBA01022584;AC091021;AF161377;AF244972;AF343880;AK289510;AK296949;AK299082;AK301504;AK304305;AK307923;AK316302;AK316338;AMYH02034452;AU279615;AW081610;BC096221;BC096222;BC096223;BC096224;CH471088;CR542088;CR542103;EF445031;NM_001007559;NM_005637;X79201;XM_005258334;XM_006722527 AAF28937;AAH96221;AAH96222;AAH96223;AAH96224;AAK21314;AAM00188;ACA06073;ACE87773;ACT64439;BAF82199;BAG59495;BAG61146;BAG63015;BAG65158;BAH14673;BAH14709;CAA55792;CAG46885;CAG46900;EAX01209;EAX01210;EAX01211;EAX01212;EAX01213;NP_001007560;NP_005628;Q15532;XP_005258391;XP_006722590 Hs.129261 1646611;2125175;2174340;5015861;5093434;5118444;7185938 A009O41;D10S16;D11S3316;G32715;SGC35446;WI-13369 MGC116875;SSXT;SYT;SYT-SSX1;SYT-SSX2 synovial sarcoma translocated to X chromosome protein;synovial sarcoma, translocated to X chromosome protein-coding ENSG00000141380 HGNC:11340 02559 600192 VALIDATED 7246238 SSBP3-AS1 SSBP3 antisense RNA 1 FOUND IN extracellular region (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 1 1 1 p32.3 52991285 52992308 + 54702116 54704736 + 54236443 54239063 + 6480464 16710414 619518 Q7Z2R9 ABBA01074726;AF176918;AL161644;AMYH02001046;NR_103541 AAQ13662;Q7Z2R9 Hs.591438 C1orf191;MST128;MSTP128 APPROVED ncrna ENSG00000198711 HGNC:32328 VALIDATED 1604711 SSC5D scavenger receptor cysteine rich family, 5 domains ENCODES a protein that exhibits extracellular matrix binding (ortholog); fibronectin binding (ortholog); laminin binding (ortholog); INVOLVED IN detection of bacterial lipoprotein (ortholog); negative regulation of interleukin-8 secretion (ortholog); receptor-mediated endocytosis (ortholog); FOUND IN extracellular matrix (ortholog); extracellular space (ortholog); intracellular (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); chloroprene (ortholog) 19 19 19 q13.42 53039800 53070315 + 55999870 56030466 + 55488503 55519099 + 6480464 12477932;14702039;16344560;19535143 284297 A1L4H1;K7EPL3;M0QZ17 ABBA01020869;AC008735;AF086519;AK092577;AMYH02036469;AMYH02036470;AMYH02036471;BC130538;BC130540;DA008417;EU699476;EU699477;KF456612;NG_027671;NM_001144950;NM_001195267 A1L4H1;AAI30539;AAI30541;ACJ02751;ACJ02752;BAC03917;NP_001138422;NP_001182196 Hs.554182 1694424;2134511;5016781 G42907;RH77907;SHGC-67307 scavenger receptor cysteine rich domain containing (5 domains);scavenger receptor cysteine-rich glycoprotein;soluble scavenger protein with 5 SRCR domains;soluble scavenger receptor cysteine-rich domain-containing protein SSC5D;soluble scavenger with 5 domains APPROVED protein-coding ENSG00000179954 HGNC:26641 11444 VALIDATED 737205 SRY sex determining region Y This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008] X Y Y p11.3 88844082 88844978 - 2654896 2655782 - 2786855 2787741 - 1599179;1598780;1580863;6480464;7240710;8554872;8699517 2247151;8257986 10235389;10459352;10602113;10670762;10721678;10732804;10843173;10852465;11062480;11278460;11563911;11585838;11641389;11818535;11869379;11912443;11990798;12107262;12111377;12215841;12477932;12483463;12575752;12764225;12793612;12815422;12871148;12919143;12970737;1339396;1415266;1425584;14660691;1483689;15155818;15170344;15266301;15297880;15300641;15469996;15489334;15527767;15579656;15579790;15687343;1570829;15746192;15863672;16166090;1619028;1639410;16411204;16414182;16504207;16510537;16582099;16756388;16762365;16813837;16904257;1695712;16996051;17063144;1734522;17762975;18029348;18056774;18184266;18271004;18304538;18391513;18412126;18453550;18454134;18598779;18851760;18990383;19007850;19027189;19030103;19188812;19199262;19349578;19372376;19376480;19531589;1956279;19650415;19661285;19850934;19852431;19902333;19914267;20072128;20301589;20301714;20347080;20528776;20689145;20699606;21051653;21114473;21242195;21412441;21696822;21849498;21868002;22288726;22441105;2247149;22523547;22568433;22832904;23235156;23361361;24003159;24128372;24708242;2909893;3464001;7017147;7557997;7633446;7717397;7718558;7774012;7776083;7876301;7985018;7987333;8012385;8019555;8054981;8105086;8111368;8122913;8159753;8244390;8265659;8353496;8355783;8434602;8447323;9024280;9054412;9143916;9150734;9341880;9346931;9443877;9450909;9521592;9525897;9652903;9678356 6736 A7WPU8;Q05066 ABBA01069746;AC006040;AJ421270;AM884747;AM884750;AY320232;AY330304;AY330305;AY573238;AY601852;AY601853;AY601854;AY601855;AY601856;AY601857;AY601858;AY601859;AY601860;AY608625;AY608626;AY998484;AY998485;AY998486;AY998487;AY998488;AY998489;AY998490;AY998491;BC074923;BC074924;DQ086140;DQ086141;FN568067;FN568068;FN568069;FN568070;FN568071;FN568072;FN568073;FN568074;FN568075;FN568076;FN568077;FN568078;FN568079;FN568080;FN568081;FN568082;FN568083;FN568084;FN568085;FN568086;FN568087;FN568088;JQ811904;JQ811905;JQ811906;JQ811907;JQ811908;JQ811909;JQ811910;JQ811911;JQ811913;JQ811915;JQ811916;JQ811917;JQ811919;JQ811922;JQ811923;JQ811924;JQ811925;JQ811926;JQ811927;JQ811928;JQ811929;JQ811930;JQ811933;JQ811934;KF413436;KF413440;L08063;L10101;L10102;NG_011751;NM_003140;S53156;S56543;X53772;X96421 AAA16878;AAA60590;AAA60591;AAB25008;AAB25716;AAH74923;AAH74924;AAP88266;AAP88269;AAP88270;AAS79428;AAT37461;AAT37462;AAT39011;AAT39012;AAT39013;AAT39014;AAT39015;AAT39016;AAT39017;AAT39018;AAT39019;AAX93511;AAX93512;AAX93513;AAY15119;AAY15120;AAY15121;AAY15122;AAY15123;AAY88211;AAY88212;ABZ92392;AFG33929;AFG33930;AFG33931;AFG33932;AFG33933;AFG33934;AFG33935;AFG33936;AFG33937;AFG33938;AFG33939;AFG33940;AFG33942;AFG33944;AFG33945;AFG33946;AFG33947;AFG33948;AFG33949;AFG33950;AFG33951;AFG33952;AFG33954;AFG33955;AGZ62969;AGZ62973;CAA37790;CAA65281;CAD13147;CAP05198;CAP05201;CBH40188;CBH40189;CBH40190;CBH40191;CBH40192;CBH40193;CBH40194;CBH40195;CBH40196;CBH40197;CBH40198;CBH40199;CBH40200;CBH40201;CBH40202;CBH40203;CBH40204;CBH40205;CBH40206;CBH40207;CBH40208;CBH40209;NP_003131;Q05066 Hs.1992 1684814;2143617;2188087;2220308;5022883;5115624;5115626;5492707;5493489 G66049;GDB:309125;RH38681;SRY;SRY-1-4;SRY-1-5;SRY-1-6;UniSTS:482099;UniSTS:486835 SRXX1;SRXY1;TDF;TDY OTTHUMP00000034324;essential protein for sex determination in human males;sex determining region Y protein;sex determining region on y;sex determining region protein;sex-determining region Y protein;sex-determining region on Y;testis-determining factor;testis-determining factor on Y APPROVED protein-coding ENSG00000184895 HGNC:11311 08364 400044;400045;480000 REVIEWED 1349474 SSFA1 sperm specific antigen 1 9114055 6743 HGNC:11318 1348902 SSB Sjogren syndrome antigen B (autoantigen La) The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014] 2 2 2 q31.1 164271755 164284947 + 170655322 170668574 + 169798812 169812064 + 1580863;6480464;6907045;8554872 10715123;10785401;10964780;10983981;11580243;12033793;12049746;12096904;12102760;12107413;12121976;12384597;12457960;12458796;12477932;12540850;12584332;12938929;12963047;14617813;14636586;15004549;15084396;15213463;15302879;15371415;15485924;15489334;15572691;15574333;15685555;15823607;15928345;16107699;16196087;16320341;16344466;16387655;16467037;16522924;16682524;16849479;16906225;1692037;17064465;17081983;17287399;17308035;17346312;17353931;17552056;17620012;17719568;17875783;17945310;17985193;18029348;18187620;18282467;18292223;1833722;18547518;18550659;18850631;19039329;19074175;19264640;19287396;19322201;19471022;19567621;19738201;20020773;20360068;20497049;20508642;20856207;21060685;21139048;21145461;21282530;21294637;21319273;21343359;21642987;21785463;21832049;21890473;21903422;21906983;21907836;21988832;22009680;22016766;22055194;22113938;22174317;22190034;22203678;22207702;22355520;22505724;22586326;22634302;22779921;22810585;22863883;22944692;22990118;23000965;23129761;23151878;23184937;23552417;23554036;23667531;23874603;24250222;24457600;24478427;2452201;24529195;24583282;2464497;2468131;2470590;24778252;24816145;3192525;3856888;7821789;7933082;7964483;9054510;9115276;9154801;9173875;9415639;9545582 6741 E7ERC4;E9PFL9;E9PGX9;P05455 AB451228;AB451351;ABBA01014899;AC009967;AMYH02005194;AMYH02005195;BC001289;BC020818;BT009862;CD676196;CH471058;D28394;DQ185046;J04205;M20328;M35261;M35262;M35263;NG_030640;NM_001294145;NM_003142;S57806;S57808;X13697;X14684;X69804;XM_005246811;Y07950 AAA36577;AAA36652;AAA36653;AAA36654;AAA51885;AAH01289;AAH20818;AAP88864;AAY14868;ABD14426;ABM85385;BAA05760;BAG70042;BAG70165;CAA31985;CAA32815;EAX11256;EAX11257;EAX11258;EAX11259;NP_001281074;NP_003133;P05455;XP_005246868 Hs.632535 1679746;2117182;2174216;5125195 D2S2569;D2S2771;RH12569;RH70881 LARP3;La;La/SSB;SS-B La ribonucleoprotein domain family, member 3;OTTHUMP00000163067;OTTHUMP00000204777;OTTHUMP00000204778;SS-B/La protein;autoantigen La;la autoantigen;lupus La antigen;lupus La protein;sjoegren syndrome type B antigen APPROVED protein-coding ENSG00000138385 HGNC:11316 00168 109090 REVIEWED 1350792 SSBP4 single stranded DNA binding protein 4 ENCODES a protein that exhibits single-stranded DNA binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; 4-hydroxyphenyl retinamide; cadmium atom 19 19 19 p13.1 18432041 18447194 + 18529679 18545372 + 18418869 18434562 + 1580863;6480464 12079286;12477932;15345747;15489334;16189514;16341674;17207965;19913121;20211142;20603019;20628086;23535729;24816145 170463 M0R338;Q9BWG4;U3KPY3;U3KQ46;U3KQ98;U3KQN6;U3KQP2;V9GYB2 ABBA01051262;ABBA01051263;AC008397;AK098429;AMYH02035732;AY026276;AY026292;BC000274;BF207000;BM851755;BQ068310;BU838485;BX400247;CA440011;CH471106;CX873722;NM_001009998;NM_032627;XM_005259790;XM_006722665;XM_006722666;XM_006722667;XM_006722668;XM_006722669;XM_006722670;XM_006722671 AAH00274;AAK20020;ADQ32711;EAW84697;EAW84698;EAW84699;EAW84700;EAW84701;EAW84702;NP_001009998;NP_116016;Q9BWG4;XP_005259847;XP_006722728;XP_006722729;XP_006722730;XP_006722731;XP_006722732;XP_006722733;XP_006722734 Hs.515259 2153237;2155768 G30241;STS-H90390 MGC3181 single-stranded DNA-binding protein 4 protein-coding ENSG00000130511 HGNC:15676 09579 607391 VALIDATED 1315886 SSC4D scavenger receptor cysteine rich family, 4 domains The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM, Apr 2004] 7 7 7 q11.23 70887164 70907528 - 76018646 76039012 - 76389329 76409695 - 1580863;6480464 12466895;12477932;20237496;21555518;24250222 136853 Q8WTU2 ABBA01005915;ABBA01005916;AC005522;AJ306912;AJ306913;AJ306914;AJ306915;AJ306916;AJ306917;AJ306918;AJ306919;AJ306920;AJ306921;AJ312755;AK172783;AMYH02016085;AMYH02016086;BC015651;BC113840;CH471220;NM_080744 AAH15651;AAI13841;AAI67843;ADZ15670;BAD18764;CAC84764;CAC88128;EAW71806;NP_542782;Q8WTU2 Hs.567684 1340350;2106645;7186921 D7S2470;SRCRB4D__5312 S4-SRCRB;S4D-SRCRB;SRCRB-S4D;SRCRB4D OTTHUMP00000161135;scavenger receptor cysteine rich domain containing, group B (4 domains);scavenger receptor cysteine-rich domain-containing group B protein;scavenger receptor cysteine-rich protein SRCRB-S4D APPROVED protein-coding ENSG00000146700 HGNC:14461 06364 607639 PROVISIONAL 1319710 SSH2 slingshot protein phosphatase 2 This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 17 17 17 q11.2 24813835 25116991 - 27952956 28257231 - 29625938 29930228 - 6480464;8554872 11214970;11832213;12477932;14527359;14531860;14702039;15489334;15660133;16344560;17081983;17427953;17848544;19322201;20477815;21868701;23416984;23824909;24250222 85464 B4DK64;F5H527;J3KSP5;J3KSQ9;K7EKN7;K7EP00;K7EQZ0;Q76I76 AB051512;AB072358;AB072359;AB099290;ABBA01015006;ABBA01015007;ABBA01015008;ABBA01015009;ABBA01015010;ABBA01015011;ABBA01015012;AC023389;AC087510;AC104564;AC104982;AF484838;AI609950;AK091432;AK094204;AK094429;AK296413;AK308887;AMYH02033254;AMYH02033255;AMYH02033256;AMYH02033257;AMYH02033258;AMYH02033259;AMYH02033260;AMYH02033261;AMYH02033262;AMYH02033263;AMYH02033264;BC008941;BC011636;BC068223;CH471159;DA749059;DA861985;NM_001282129;NM_001282130;NM_001282131;NM_033389;XM_005258058;XM_005258059;XM_005258060;XM_006722149;XM_006722150 AAH08941;AAH11636;AAH68223;AAI66670;AAL92027;BAB21816;BAB84117;BAB84118;BAC97813;BAG52360;BAG59076;EAW51209;EAW51210;EAW51211;EAW51212;EAW51213;NP_001269058;NP_001269059;NP_001269060;NP_203747;Q76I76;XP_005258115;XP_005258116;XP_005258117;XP_006722212;XP_006722213 Hs.654754 1334727;1335400;1668154;1682327;1700566;1750065;1850851;2083812;2135757;2144664;2157936;5015619;5015861;5015961;5019783;5022578;5022651;5024039;5037552;5109281;7185938 A009U17;Cda0kh01;D10S16;D11S2921;D11S3114;D15S1477;D16S3113;D16S325;D17S975;D1S1423;D1S1425;D8S2279;G32840;REN113153;RH103904;RH16560;RH46489;SHGC-107232;SHGC-33453;SHGC-56835 KIAA1725;MGC78588;SSH-2;SSH-2L;hSSH-2L OTTHUMP00000163634;OTTHUMP00000163635;SSH-like protein 2;protein phosphatase Slingshot homolog 2;slingshot 2;slingshot homolog 2 APPROVED protein-coding ENSG00000141298 HGNC:30580 09487 606779 REVIEWED 1318592 SSH3 slingshot protein phosphatase 3 The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM, Mar 2008] 11 11 11 q13.2 64403558 64412717 + 67070919 67080078 + 67303448 67312607 + 737633;1580863;6480464;8554872 12477932 11832213;14531860;14702039;15489334;15660133;16344560;16964243;17848544;18442045;21832049;21906983;8889548 54961 C9JUG3;E9PIT5;E9PJJ6;E9PMS1;Q8TE77 AB072360;AB099291;ABBA01024041;AF085851;AK000522;AK001790;AK074432;AK094226;AK124234;AMYH02024991;AP001885;BC004176;BC004210;BC007709;BU689839;CH471076;DB002847;NM_017857;XM_005274070;XM_005274071;XM_005274072;XM_006718592;XR_247205;XR_247206 AAH07709;BAA91228;BAA91913;BAB84119;BAB85080;BAC04314;BAC97814;EAW74587;EAW74588;EAW74589;EAW74590;EAW74591;EAW74592;EAW74593;EAW74594;EAW74595;EAW74596;NP_060327;Q8TE77;XP_005274127;XP_005274128;XP_005274129;XP_006718655 Hs.29173 1663484;2109887;2155198 SSH3_9859;STS-W92216;WI-17496 FLJ10928;FLJ20515;FLJ42240;SSH-3L;SSH3L;hSSH-3L OTTHUMP00000235173;OTTHUMP00000235175;OTTHUMP00000235177;SSH-like protein 3;protein phosphatase Slingshot homolog 3;slingshot 3;slingshot homolog 3 APPROVED protein-coding ENSG00000172830 HGNC:30581 09488 606780 VALIDATED 1345208 SSH1 slingshot protein phosphatase 1 The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 12 q24.11 108845298 108920242 - 109176466 109251359 - 108782690 108857583 - 1580863;6480464;6484113 10718198;11832213;12477932;12684437;12807904;14531860;14645219;14702039;15056216;15159416;15302935;15342556;15459975;15489334;15660133;15671020;16230460;16513117;17350576;17848544;18029348;18096821;18809681;19000834;19322201;19339277;19371722;19567672;20477815;21289500;21525957;21690039;22282498;23247370;23834120;24039253;24250222;24418541 54434 F8VS18;F8W1D9;H0YHR3;Q8WYL5 AB037719;AB072355;AB072356;AB072357;ABBA01053124;ABBA01053125;ABBA01053126;AC087893;AI621348;AK025581;AK095421;AMYH02027156;AMYH02027157;BC005101;BC013792;BC020243;BC062341;BP363810;CH471054;NG_029846;NM_001161330;NM_001161331;NM_018984;XM_005268984;XM_005268985;XM_005268986;XM_006719466 AAH62341;BAA92536;BAB84114;BAB84115;BAB84116;BAC04546;EAW97830;EAW97831;EAW97832;EAW97833;NP_001154802;NP_001154803;NP_061857;Q8WYL5;XP_005269041;XP_005269042;XP_005269043;XP_006719529 Hs.199763 1338683;1656801;2129946;2130175;2189825;2189839;5037552 24-1443;27-81;D3S1544;D8S2279;RH45532;RH65932;STS-AA010350 FLJ21928;FLJ38102;KIAA1298;SSH-1L;SSH1L;hSSH-1L OTTHUMP00000240920;OTTHUMP00000240922;OTTHUMP00000240923;SSH-like protein 1;protein phosphatase Slingshot homolog 1;slingshot 1;slingshot homolog 1 APPROVED protein-coding ENSG00000084112 HGNC:30579 09486 606778 REVIEWED 1321861 SSFA2 sperm specific antigen 2 ENCODES a protein that exhibits actin binding (inferred); receptor binding (inferred); FOUND IN cytoplasm; nucleus; plasma membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-azacytidine; all-trans-retinoic acid 2 2 2 q31.3 176352205 176391198 + 182756472 182795465 + 181891716 181930738 + 1580863;6480464 11572484;12477932;14673706;14702039;15302935;15489334;1555770;15815621;16169070;16344560;17081983;17934691;20936779;21078624;21457704;21501587;21873152;21890473;21906983;21963094;21988832;22990118;23000965;8889548;9740325 6744 E7EUL7;E9PHV5;F2Z295;H7BZ26;P28290 AB067514;AB116937;ABBA01062290;ABBA01062291;AC009962;AK091197;AK093143;AK097375;AK098455;AK127890;AK291745;AK298186;AK298949;AK304238;AL833431;AMYH02005362;BC012947;BC028706;BC037334;BC052581;BC064499;BM680256;BX647257;BX647967;BX648182;BX648888;CH471058;CR749488;DA930567;DB455116;DB455803;DB460982;DB462183;M61199;NM_001130445;NM_001287503;NM_001287504;NM_001287505;NM_006751;NR_109843;XM_005246812;XM_005246813;XR_241319;XR_241320 AAB00773;AAH12947;AAH28706;AAH52581;AAH64499;AAY14913;BAB67820;BAC03607;BAC05027;BAC05308;BAC81767;BAF84434;BAG54593;BAG60457;BAG61048;BAG65107;CAH18314;EAX10980;EAX10981;NP_001123917;NP_001274432;NP_001274433;NP_001274434;NP_006742;P28290;XP_005246869;XP_005246870 Hs.196983 1650569;1770796;1856823;1856825;5037552;5491836 A005X48;D8S2279;G20586;RH17714;RH69390;SSFA2 CS-1;CS1;DKFZp313O1039;DKFZp779G0129;FLJ45996;KIAA1927;KRAP;SPAG13 KRAS-induced actin-interacting protein;OTTHUMP00000163405;OTTHUMP00000163406;OTTHUMP00000205486;cleavage signal-1 protein;ki-ras-induced actin-interacting protein;sperm associated antigen 13;sperm-specific antigen 2 protein-coding ENSG00000138434 HGNC:11319 00353 118990 VALIDATED 1604235 SSMEM1 serine-rich single-pass membrane protein 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid; rosiglitazone 7 7 7 q32.2 124643463 124652445 + 129839317 129856684 + 130205525 130216844 + 6480464;8554872 12477932;12690205;14702039;15489334;17207965 136263 A4D1L0;Q8WWF3 ABBA01057592;AC024085;AC087071;AK097635;AMYH02016752;BC017587;CH236950;CH471070;HC006848;NM_145268;XM_005250141 AAH17587;ADQ31904;BAC05126;CBH19229;EAL24093;EAW83750;NP_660311;Q8WWF3;XP_005250198 Hs.351816 C7orf45;FLJ40316 OTTHUMP00000212523;hypothetical protein LOC136263;uncharacterized protein C7orf45 APPROVED protein-coding ENSG00000165120 HGNC:29580 14060 VALIDATED 1321056 SSNA1 Sjogren syndrome nuclear autoantigen 1 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN ciliary receptor clustering involved in smoothened signaling pathway (inferred); G2/M transition of mitotic cell cycle (inferred); intraciliary transport (inferred); FOUND IN centrosome; INTERACTS WITH elemental selenium; selenium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q34.3 110597085 110598853 + 140083029 140084822 + 137188602 137190370 + 1580863;6480464 11076968;11591653;12221128;12477932;12852856;14654843;15269182;15489334;16462731;19615732;21139048;21890473;22008182;22505724;23000965;24250222;24816145;7790358;9430706 8636 O43805 ABBA01022747;AL929554;AMYH02021925;BC000864;BC004118;BC015827;BT006766;CH471090;CR542238;DB466912;NM_003731;Z96932 AAH00864;AAP35412;CAB09660;CAG47034;EAW88362;EAW88363;NP_003722;O43805 Hs.530314 1680713;1851107;2109889 RH75093;RH78795;SSNA1_7924 N14;NA-14;NA14 OTTHUMP00000022691;Sjoegren syndrome nuclear autoantigen 1;Sjogren's syndrome nuclear autoantigen 1;nuclear autoantigen of 14 kDa protein-coding ENSG00000176101 HGNC:11321 10251 610882 VALIDATED 736464 SSBP1 single-stranded DNA binding protein 1, mitochondrial SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010] 7 7 7 q34 136159808 136171889 + 141438121 141450288 + 141738321 141750488 + 1580863;6480464;6907045 10827171;11556757;11964388;12381786;12464025;12477932;12479417;12690205;12853948;12975372;15161933;15342556;15489334;15710247;16407974;16428295;18029348;18063578;18305033;18457437;19066201;19167051;19605351;19683501;19738201;19759019;19786724;20000738;20028516;20100872;20186120;20360068;20434493;20639865;20843780;20877624;20972266;21139048;21145461;21150319;21242961;21319273;21360678;21890473;21906983;21953457;22153281;22190034;22242598;22354994;22505724;22939629;23000965;23042605;23184057;23246001;23290262;23398456;23438482;23443559;23568457;23986477;24244333;24337577;24583282;24816145;25036637;7789991;8482537;9033597;9452467 6742 A4D1U3;B7Z268;C9J8J0;C9K0U8;E7EUY5;Q04837 ABBA01034109;ABBA01034110;AC004918;AC004979;AF277319;AK294393;AK313033;AMYH02016923;BC000895;BC008402;BC093054;BF131408;BG030060;BP308841;BQ959702;BU532904;CH236950;CH471070;DB464012;HQ206146;HQ206147;HQ206148;HQ206149;HQ206150;HQ206151;HQ206152;HQ206153;HQ206154;HQ206155;HQ206156;HQ206157;HQ206158;HQ206159;HQ206160;HQ206161;HQ206162;HQ206163;HQ206164;HQ206165;HQ206166;HQ206167;HQ206168;HQ206169;HQ206170;HQ206171;HQ206172;HQ206173;HQ206174;HQ206175;HQ206176;HQ206177;HQ206178;HQ206179;HQ206180;HQ206181;HQ206182;HQ206183;HQ206184;HQ206185;M94556;NM_001256510;NM_001256511;NM_001256512;NM_001256513;NM_003143;NR_046269;XM_005250048;XM_005250049;XM_005250050;XM_005250051 AAA36332;AAH00895;AAH08402;AAH93054;AAK69112;AAS02037;ABM84297;ABM87692;ADP92054;ADP92055;ADP92056;ADP92057;ADP92058;ADP92059;ADP92060;ADP92061;ADP92062;ADP92063;ADP92064;ADP92065;ADP92066;ADP92067;ADP92068;ADP92069;ADP92070;ADP92071;ADP92072;ADP92073;ADP92074;ADP92075;ADP92076;ADP92077;ADP92078;ADP92079;ADP92080;ADP92081;ADP92082;ADP92083;ADP92084;ADP92085;ADP92086;ADP92087;ADP92088;ADP92089;ADP92090;ADP92091;ADP92092;ADP92093;BAG35866;BAH11754;EAL24018;EAW83978;EAW83979;EAW83980;EAW83981;NP_001243439;NP_001243440;NP_001243441;NP_001243442;NP_003134;Q04837;XP_005250105;XP_005250106;XP_005250107;XP_005250108 Hs.490394 1664214;1664216;1670580;1856013;5015861;7185938 D10S16;D7S2022;RH47311;WI-17072;WI-22640 Mt-SSB;SOSS-B1;SSBP;mtSSB OTTHUMP00000212286;OTTHUMP00000212287;OTTHUMP00000212288;OTTHUMP00000212289;OTTHUMP00000212290;OTTHUMP00000212291;OTTHUMP00000212293;PWP1-interacting protein 17;single-stranded DNA-binding protein, mitochondrial APPROVED protein-coding ENSG00000106028 HGNC:11317 02703 600439 VALIDATED 4889220 SSR1P2 signal sequence receptor, alpha pseudogene 2 13 13 13 q22.2 56608199 56608958 + 75710315 75711074 + 75136178 75136937 + 100131189 ABBA01021639;AL157361;AMYH02028277;NG_021969 pseudo HGNC:39274 INFERRED 4889241 SSR1P1 signal sequence receptor, alpha pseudogene 1 6 6 6 151440391 151441157 - 150705470 150706236 - 150384334 150385100 - 100420476 ABBA01025662;AL031010;AMYH02014705;NG_025880 pseudo HGNC:39273 INFERRED 1347504 SSPN sarcospan This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008] 12 12 12 p11.2 31494788 31534221 + 26348032 26387710 + 26195336 26234777 + 1580863;6480464;8554872 10651799;10767327;10942431;11076863;11180757;11230166;11256614;11470766;11807778;11956653;12477932;14702039;15342556;15375499;15489334;15489336;16344560;16381901;16823602;17234882;17311848;18028944;18830929;18981229;19913121;20628086;20935629;8020969;8661122;9395445 8082 F5H0K2;F5H381;Q14714 ABBA01068031;ABBA01068032;AC022509;AF016028;AK092925;AK304667;AK314353;AL136756;AMYH02026232;BC062299;BP341300;CA419006;CH471094;DA073350;DQ897666;EU433933;NG_012011;NM_001135823;NM_005086;X89105 AAC61660;AAH62299;ABI78937;ACA09756;BAG36988;BAG52629;BAG65442;CAA61479;CAB66690;CAL37553;CAL37592;EAW96532;NP_001129295;NP_005077;Q14714 Hs.183428 1753095;1793794;1793796;1793798;1793800;1793802;1849822;2117605;2134764;2145780 D12S1413;PMC29083P1;PMC29083P2;PMC29083P3;PMC29083P4;PMC29083P5;RH66809;RH78441;SHGC-24297;SHGC-83023 DAGA5;KRAG;NSPN;SPN1;SPN2 K-ras oncogene-associated protein;Kirsten-ras associated;Kras oncogene-associated;OTTHUMP00000240278;OTTHUMP00000240279;kirsten-ras-associated protein;microspan;nanospan;sarcospan (Kras oncogene-associated gene) APPROVED protein-coding ENSG00000123096 HGNC:11322 03359 601599 REVIEWED 1604386 SSPO SCO-spondin ENCODES a protein that exhibits peptidase inhibitor activity (inferred); INVOLVED IN cell adhesion (inferred); negative regulation of peptidase activity (inferred); PARTICIPATES IN Hedgehog signaling pathway; mTOR signaling pathway; Notch signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 q36.1 144142344 144200269 + 149473131 149531054 + 149776042 149833965 + 6484113;6480464;8554872 11008217;12421765;12477932;12909363;14692680;14702039;15053980;15790807;16713569;17126404;18046595;19913121;20628086;8743952;9628581 23145 A2VEC9;Q8N9X4 AB111888;ABBA01033639;AC004877;AK093431;AK123170;AK124542;AK127639;AMYH02017054;AMYH02017055;AY927596;AY927597;AY927598;BN000852;KF459635;KF459640;KF495712;NM_198455 A2VEC9;BAC04161;BAC98376;CAJ43920;NP_940857 Hs.632022 1334753;7184416 D7S2426 FLJ36112;FLJ45737;KIAA2036 SCO protein, thrombospondin domain containing;SCO-spondin homolog (Bos taurus);subcommissural organ spondin APPROVED protein-coding ENSG00000197558 HGNC:21998 INFERRED 1353118 SSR4P1 signal sequence receptor, delta pseudogene 1 INTERACTS WITH aflatoxin B1 21 21 21 q22.3 31597514 31599770 - 46490870 46493126 - 45070955 45073211 - 6480464 11181995;12477932;15489334 728039 Q9NSI1 ABBA01074184;AL133499;AL163301;AMYH02037925;AP001579;BC004343;CH471079;KF457342;NR_027292 CAB90494;EAX09363 Hs.309203 1724749 RH122581 C21orf122;MGC10960;PRED57;PRED90 APPROVED pseudo ENSG00000235374 HGNC:23131 INFERRED 7245830 SSSCA1-AS1 SSSCA1 antisense RNA 1 (head to head) 11 11 q13.1 65336691 65337884 - 65569220 65570413 - 14702039;16344560;20881960 254100 ABBA01024111;AF085877;AK057616;AMYH02024961;AP001362;DA695100;NR_038923 Hs.595927 1665627;1684104;1770433;5109281 D11S1139;D1S1425;G33122;RH45198 ncrna HGNC:27384 VALIDATED 1318091 SSR2 signal sequence receptor, beta (translocon-associated protein beta) The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008] 1 1 1 q21-q23 129051733 129062855 - 155978839 155990758 - 156009048 156020967 - 1580863;6480464;6907045 10471800;12477932;12754519;14702039;15342556;15489334;16710414;18293417;20379614;21906983;21963094;21987572;22505724;24816145;3021779;7789174;7916687;8125298;8286409;9631292 6746 E9PJ35;E9PLP2;E9PN13;E9PNP2;E9PQ05;E9PQI4;E9PQJ7;P43308 ABBA01016677;ABBA01016678;AK092473;AK222600;AK300678;AK313821;AL355388;AMYH02001958;AMYH02001959;AY251536;BC000341;BP196192;BX649192;CH471121;CR456973;D37991;NM_003145;X74104 AAH00341;AAP20059;BAA07206;BAD96320;BAG36556;BAG62361;CAA52207;CAE46211;CAG33254;EAW53010;EAW53011;NP_003136;P43308 Hs.74564 1649082;2121494;2137996;2148323;2183973;5016596;5020740;5022450;5023327;5109281 AL009409;D10S275;D1S1425;GDB:631802;GDB:679134;L17809;L18023;RH11777;RH64509;RH70896 DKFZp686F19123;HSD25;TLAP;TRAP-BETA;TRAPB OTTHUMP00000018845;OTTHUMP00000234682;OTTHUMP00000234684;SSR-beta;signal sequence receptor subunit beta;translocon-associated protein beta;translocon-associated protein subunit beta APPROVED protein-coding ENSG00000163479 HGNC:11324 02923 600867 REVIEWED 1349375 SSR3 signal sequence receptor, gamma (translocon-associated protein gamma) The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010] 3 3 3 q25.31 154681265 154696309 - 156257929 156272973 - 156540140 156555184 - 1580863;6480464;6907045 10471800;12477932;14667819;15489334;16344560;17081983;17353931;18781797;18976975;19615732;21139048;21906983;21963094;22632162;22939629;23000965;23660295;24778252;24816145;7916687;9631292 6747 C9J365;C9JA28;Q9UNL2 ABBA01058840;AC092927;AF087907;AF110647;AK304364;AK312935;AMYH02007973;BC017203;BM997362;BT006669;CH471052;DA135338;NM_007107 AAD48587;AAH17203;AAP35315;AAP97205;ABM83498;ABM86714;BAG35777;BAG65204;EAW78730;EAW78731;NP_009038;Q9UNL2 Hs.518346 1646664;1655344;1698666;1735194;1740251;1740255;1788700;2129239;2136316;2168584;2177526;5014051;5015621;5037552;5109687 D11S3732;D1S1922E;D3S1655;D3S1695;D3S2838E;D3S3314;D8S2278;D8S2279;RH102892;RH135816;SHGC-37401;STS-N50721;STS-W44471;STS-W93529;WI-17436 TRAPG OTTHUMP00000213166;OTTHUMP00000213167;OTTHUMP00000213168;OTTHUMP00000213169;OTTHUMP00000213170;SSR gamma;SSR-gamma;TRAP-complex gamma subunit;TRAP-gamma;signal sequence receptor subunit gamma;translocon-associated protein gamma subunit;translocon-associated protein subunit gamma APPROVED protein-coding ENSG00000114850 HGNC:11325 16206 606213 REVIEWED 1322158 SSR1 signal sequence receptor, alpha The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] 6 6 6 p24.3 8511044 8543304 - 7281283 7313541 - 7281050 7313308 - 1580863;6480464;6907045 10437777;10471800;12477932;12754519;14574404;14702039;15489334;1557127;16169070;16303743;17081983;17380188;18029348;18976975;19322201;1964414;21139048;21145461;21150319;21693764;21900206;21906983;21907836;21987572;21988832;22268729;22939629;22990118;23455922;7916687;8050590;8125298;8707840;9631292 6745 C9IZQ1;C9J3L8;C9J5W0;C9JBX5;C9JY01;E9PAL7;P43307 ABBA01022040;AF156965;AJ420492;AK024294;AK025753;AK026687;AK075562;AK222762;AK222809;AK291550;AK312653;AL139095;AL550910;AMYH02013059;BC007710;BI553058;BM685131;BQ216448;BT007387;CA424805;CH471087;CR456961;CR936719;DC384883;NM_001292008;NM_003144;NR_120448;Z12830 AAD48778;AAH07710;AAP36051;ABM83677;ABW03544;BAC11701;BAD96482;BAD96529;BAF84239;BAG35536;CAA78290;CAG33242;EAW55202;EAW55203;EAW55204;NP_001278937;NP_003135;P43307 Hs.114033 1657624;1664468;1674131;1687345;1699992;1701322;1710536;1710754;1730291;1778353;1849455;2116101;2142740;2153204;2178076;2179758;5015861;5024756;5037552;7184705;7185938;7186054 A006P22;A006X18;D10S16;D6S1472;D6S321E;D8S2279;G31079;RH103606;RH104291;RH17553;RH80030;RH93008;SGC35789;SHGC-32039;SHGC-36562;SHGC-84014;SHGC-86312;STS-N36801;WI-18513 DKFZp781N23103;FLJ14232;FLJ22100;FLJ23034;FLJ78242;FLJ93042 OTTHUMP00000015998;OTTHUMP00000213998;OTTHUMP00000213999;OTTHUMP00000214000;OTTHUMP00000214001;OTTHUMP00000214008;SSR alpha subunit;SSR-alpha;TRAP alpha;TRAP-alpha;TRAPA;signal sequence receptor subunit alpha;translocon-associated protein alpha subunit;translocon-associated protein subunit alpha APPROVED protein-coding ENSG00000124783 HGNC:11323 02924 600868 REVIEWED 736749 SSR4 signal sequence receptor, delta This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011] X X X q28 153293775 153297635 + 153059630 153063967 + 153794175 153798512 + 1302383;1300048;1580863;6480464;6907045 9286695 10471800;11076863;12107412;12477932;14684739;14702039;15057039;15342556;15489334;15489336;16196087;16344560;16381901;17314511;17342744;17353931;18781797;20301507;20639865;20972266;21139048;21145461;21319273;21890473;21906983;21963094;21987572;22053931;22190034;22268729;22505724;22939629;23000965;23246001;23438482;23464991;23798571;24337577;24457600;24816145;7492314;7916687;9631292 6748 A6NLM8;P51571 ABBA01045357;AK057117;AK094395;AK290493;AMYH02040844;BC003371;BC015362;BC032351;BE791319;BG165852;BI754091;BP202705;BT007192;CD672615;CH471172;CQ859728;DB238237;NM_001204526;NM_001204527;NM_006280;NR_037927;U52111;X90583;Z68129;Z69043 AAH03371;AAP35856;ABM87812;ABW03671;BAF83182;CAA62211;CAA92215;CAA93157;CAH25914;CAL37918;CAL38393;EAW72807;EAW72808;EAW72809;EAW72810;EAW72811;NP_001191455;NP_001191456;NP_006271;P51571 Hs.409223 1665020;5096020;5106552 DXS7064;RH67907;RH71299 TRAPD OTTHUMP00000025954;OTTHUMP00000025956;OTTHUMP00000025957;OTTHUMP00000025958;SSR-delta;TRAP-delta;signal sequence receptor 4;signal sequence receptor subunit delta;translocon-associated protein delta;translocon-associated protein subunit delta APPROVED protein-coding ENSG00000180879 HGNC:11326 02101 300090 REVIEWED 734366 SSRP1 structure specific recognition protein 1 The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008] 11 11 11 q12 54452485 54462377 - 57093459 57103351 - 57325985 57335877 - 1580863;6480464;8548475;9068945 20046924;23288364 10199952;10336466;10421373;10912001;11239457;11344167;11824977;12101123;12374749;12393879;12477932;12676794;12934006;1372440;14559993;14660563;15009096;15034300;15047060;15231747;15302935;15385968;15489334;15561718;15592455;15616580;15635413;15659405;16169070;16226712;16498457;16522924;16622419;16682447;16713563;16730941;16902406;17081983;17209051;17403666;17672918;18029348;18036521;18274552;18406329;18781797;19214185;19394292;19454010;19471022;19596686;19625449;19639603;19710137;19738201;19836239;19995907;20085707;20562859;20599239;20603019;21055985;21113133;21139048;21145461;21232560;21252943;21454601;21549307;21679440;21693764;21890473;21906983;21907836;21963094;21969370;22113938;22178446;22505724;22623428;22863883;22939629;22940245;23000965;23182705;23325844;23329831;23610384;23839038;24357716;24457600;24816145;25027693;2530581;7594592;9489704;9566881;9836642 6749 E9PMD4;E9PPZ7;Q08945 AB209132;ABBA01021468;AMYH02024841;AP000781;BC005116;BC091486;CH471076;M86737;NM_003146;XM_005274194 AAA58660;AAH05116;AAH91486;ABM84585;ABM86758;BAD92369;EAW73734;EAW73735;NP_003137;Q08945;XP_005274251 Hs.523680 1672336;1742547;1769728;1777268;2129029;2177834;2218614 GDB:197864;RH17745;RH47161;SHGC-30227;SSRP1;SSRP1_3468;WI-9146 FACT;FACT80;FACTp80;T160;hSSRP1 FACT 80 kDa subunit;FACT complex subunit SSRP1;OTTHUMP00000234768;chromatin-specific transcription elongation factor 80 kDa subunit;cisplatin-DNA SSRP;facilitates chromatin remodeling 80 kDa subunit;facilitates chromatin transcription complex 80 kDa subunit;facilitates chromatin transcription complex subunit SSRP1;high mobility group box;recombination signal sequence recognition protein 1;structure-specific recognition protein 1 APPROVED protein-coding ENSG00000149136 HGNC:11327 05061 604328 REVIEWED 734231 SST somatostatin The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. [provided by RefSeq, Jul 2008] 3 3 3 q28 185817667 185819174 - 187386694 187388201 - 187668906 187670413 - 1641809;2303186;2303174;2303191;6480464 17021051;17928643;17990461;18925713 11753230;11814357;11823046;11860030;11920268;12174892;12477932;12684217;12902325;12952361;1337145;1346068;14559725;15266779;15286801;15358539;15472172;15489334;15590633;15655830;16043736;16211223;16214911;16284732;16456666;16606630;16736556;16764985;16804989;16952549;17130427;17229384;17327350;17704349;17987251;18196269;18240029;18310290;18473402;18567806;18577758;18617261;18753129;19086053;19106227;19328558;19423539;19559700;19607727;19733630;20043075;20055772;20501436;20602615;20629740;20634197;20734064;20800603;20810604;20819778;21232602;21368047;21632809;21640760;22366760;22509294;22528496;22532184;22932785;23128854;23312523;23825418;4682131;6126875;6142531;6145156;6196780;7908405;8100352;8405411;8612489;8961277;9437026;9878821;9886848 6750 P61278 ABBA01058368;AC072022;AK312177;AMYH02008368;BC032625;BM353331;CH471052;J00306;NM_001048;R54287 AAA60566;AAH32625;BAG35110;EAW78145;EAW78146;NP_001039;P61278 Hs.12409 1336863;1787954;1787956;1787958;1791738;2133260;2174462;5494213 G67157;G67158;G67159;PMC123023P2;SHGC-77642;SHGC-77648;SST;SST-112F SMST OTTHUMP00000209936;growth hormone release-inhibiting factor;prepro-somatostatin;somatostatin-14;somatostatin-28 1643508 BW262_H APPROVED protein-coding ENSG00000157005 HGNC:11329 08920 182450 REVIEWED 1323499 SSSCA1 Sjogren syndrome/scleroderma autoantigen 1 This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 62664332 62665628 + 65336651 65340075 + 65570472 65571768 + 1580863;6480464;8554872 11591653;12477932;15489334;16189514;17353931;19574837;20881960;21139048;21292307;21890473;21906983;21987572;21988832;22053931;22190034;22261722;22505724;22863883;22939629;23000965;24250222;24816145;9486406 10534 E9PK41;E9PN57;G3V1B8;H0YEB6;H0YEK1;O60232 AB001740;ABBA01024111;AMYH02024961;AP001362;BC014791;CH471076;NM_006396 AAH14791;ABM82708;ABM85892;BAA25263;EAW74406;EAW74407;EAW74408;NP_006387;O60232 Hs.25723 1665627;1684104;1770433;2168824 D11S1139;G33122;G33124;RH45198 p27 OTTHUMP00000232769;OTTHUMP00000233069;OTTHUMP00000233071;Sjoegren syndrome/scleroderma autoantigen 1;Sjogren's syndrome/scleroderma autoantigen 1;autoantigen p27;centromeric autoantigen (27kD) APPROVED protein-coding ENSG00000173465 HGNC:11328 06921 606044 PROVISIONAL 735550 SSTR4 somatostatin receptor 4 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [provided by RefSeq, Jul 2008] 20 20 20 p11.2 23089437 23090694 + 23016057 23017314 + 23035420 23036677 + 1580863;2324994;2324996;2325002;6480464 11879809;18951627;8132773 10433861;10768564;11344221;11472428;11753241;11780052;12021920;12210479;12414882;12477932;1346068;15489334;16214911;18066572;18240029;18577758;18936524;19086053;19330452;19423539;19426801;19687471;20182388;20233783;20237496;20634197;20717067;20734064;20810604;23251661;23991955;24529757;24743707;2834384;8100352;8244401;8373420;8405411;8449518;8483934;8512564;9125122;9205124;9279525;9892014 6754 P31391 ABBA01016174;AL049651;AMYH02036831;AY548169;BC069063;BC117270;BC117272;CH471133;D16826;HB975876;JC341413;L07833;L14856;NM_001052 AAA36623;AAA60565;AAH69063;AAI17271;AAI17273;AAS55648;BAA04106;CBE74691;CDM63486;EAX10168;EAX10169;EAX10170;NP_001043;P31391 Hs.673846 1648610;1788378;1788380;1788382;2106651;2115881;5492513;5493677 G67505;G67506;G67507;RH69015;SSTR4__5323;STS-L14856;UniSTS:481440;UniSTS:490188 SS-4-R;SS4-R;SS4R G-protein coupled receptor;OTTHUMP00000030416;somatostatin receptor type 4 APPROVED protein-coding ENSG00000132671 HGNC:11333 01676 182454 VALIDATED 2304378 SSTR5-AS1 SSTR5 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 16 16 16 p13.3 1328723 1343451 - 1114081 1128731 - 1064081 1078731 - 8554872 12477932;14702039 146336 Q96MJ9 ABBA01030330;AC009041;AK056814;AMYH02031212;AMYH02031213;AMYH02031214;AW291498;BC068093;BC084558;CH471112;NR_027242 BAB71289;EAW85688;EAW85689 Hs.250557 1744835;1788384;1788386;1788388;1856740;2155752 FB22H7;G67508;G67509;G67510;GDB:568875;RH66813 FLJ32252 APPROVED ncrna ENSG00000261713 HGNC:26502 08125 PREDICTED 1605688 SSU72 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) ENCODES a protein that exhibits CTD phosphatase activity; INVOLVED IN dephosphorylation of RNA polymerase II C-terminal domain; mRNA polyadenylation; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (+)-catechin; copper(2+) sulfate; disodium selenite 1 1 1 p36.33 1068953 1103100 + 1477053 1510262 - 1541673 1574882 - 6480464 11042152;11483580;12477932;14702039;15125841;15659578;18597038;18976975;19615732;20818333;20861839;21139048;21890473;21906983;21988832;22235117;22939629;23000965;23070812;24149858;24413056 29101 Q9NP77 ABBA01016053;ABBA01016054;AF161530;AF277178;AF305818;AJ276409;AK001809;AK023110;AK127149;AK129493;AK291324;AK297505;AK310067;AL645728;AMYH02000104;AMYH02000105;BC008070;BC018909;CF594026;CH471183;NM_014188;XR_426602 AAF29145;AAH08070;AAK07538;AAK55521;ABM83913;ABM87235;BAA91921;BAB14410;BAF84013;BAG59918;CAC81713;EAW56182;EAW56183;NP_054907;Q9NP77 Hs.30026;Hs.549751;Hs.732583 1673823;1850825;1854621;2117891;2118183;2178842;5015879;5016478;5107479 A001Y42;A009A39;GDB:314949;GDB:434012;RH70327;SHGC-74075;SHGC-74090;STS-Z40614;WI-17614 FLJ13048;HSPC182;PNAS-120 CTD phosphatase SSU72;OTTHUMP00000000597;RNA polymerase II subunit A C-terminal domain phosphatase SSU72 protein-coding ENSG00000160075 HGNC:25016 13712 VALIDATED 736501 SSTR5 somatostatin receptor 5 Somatostatin and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010] 16 16 16 p13.3 1337406 1346174 + 1122756 1131454 + 1072756 1081454 + 1580863;1358589;2325008;6480464;7240710;8699517;8554872 12192619;7956902 10713101;10753124;11157797;11502816;11753241;12021920;12072395;12414882;12898583;1346068;14602773;15118275;15247250;15616553;15914528;16012170;16214911;16216913;16344560;16690617;16954443;17159301;18066572;18240029;18577758;18653781;18936524;19070659;19318729;19330452;19342453;19401364;19423539;19748526;19894022;20150960;20182388;20201926;20207824;20233783;20398908;20468064;20529830;20634197;20717067;20734064;20739383;20810604;21190959;21238583;21249361;21383526;21419811;21503779;21667819;21692047;21810856;21820437;21906983;21952553;22419713;22640914;22720333;22770972;23418396;23991955;24182563;24189142;24634938;2834384;6145156;7607700;7908405;8078491;8373420;8449518;9125122;9177396;9205124;9279525;9694905;9892014;9892225 6755 AAB31829;P35346 ABBA01030330;AC009041;AE006466;AK308381;AL031713;AMYH02031213;AMYH02031214;AY081193;CH471112;D16827;DB202230;DQ448303;DQ448304;DW447547;HB975880;JC341417;L14865;NG_016744;NM_001053;NM_001172560;XM_006720936 AAA20828;AAB31829;AAI41554;AAI46577;AAK61266;AAL88744;ABE27002;ABE27003;BAA04107;CBE74695;CDM63488;EAW85687;NP_001044;NP_001166031;P35346;XP_006720999 Hs.449840 1744835;1788384;1788386;1788388;2155752;5492423;5493777 G67508;G67509;G67510;GDB:568875;RH66813;UniSTS:480985;UniSTS:494790 SS-5-R OTTHUMP00000158593;somatostatin receptor subtype 5;somatostatin receptor type 5 2315775 GLUCO145_H APPROVED protein-coding HGNC:11334 01677 102200;182455 REVIEWED 5683944 SSU72P1 SSU72 pseudogene 1 X X X q23 114060311 114060892 + 113625127 113625708 + 114390674 114391255 + 286528 ABBA01053560;AL953862;AMYH02040264;NG_022691 APPROVED pseudo HGNC:43620 INFERRED 737191 SSTR1 somatostatin receptor 1 Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. The protein encoded by this gene is a member of the superfamily of somatostatin receptors having seven transmembrane segments. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This somatostatin receptor has greater affinity for somatostatin-14 than -28. [provided by RefSeq, Jul 2012] 14 14 14 q13 18541740 18546804 + 38677204 38682268 + 38207999 38213063 + 1580863;1641809;2325008;6480464 17021051;7956902 10713101;10734105;11344221;11527930;11753241;12021920;12359227;12376335;12414882;12474541;12477932;12788890;1346068;15123239;15247250;15489334;16214911;17533578;17848636;18240029;18347174;18577758;18823376;18936524;19070659;19086053;19106227;19318729;19330452;19423539;20182388;20453000;20529830;20634197;20717067;20734064;20739383;20810604;20819778;21419811;23319000;23455179;23722468;24106690;24512486;24634938;7968260;8405411;8449518;8622562;9125122;9205124;9279525;9886848;9892225 6751 P30872;Q86SW9 ABBA01061539;AK290868;AL450109;AMYH02029042;AY322536;BC035618;BX248780;CH471078;HB975862;JC341399;M81829;NM_001049 AAA58247;AAH35618;AAP84349;ABM84254;ABM87643;BAF83557;CAD66587;CBE74677;CDM63479;EAW65836;NP_001040;P30872 Hs.248160 1690316;1742373;1788360;1788362;1788364;2108529;2127696;2165795 G67496;G67497;G67498;GDB:196507;RH44750;RH93864;SSTR1_8648;STS-M81829 SRIF-2;SS-1-R;SS1-R;SS1R G-protein coupled receptor;OTTHUMP00000244198;somatostatin receptor type 1 APPROVED protein-coding ENSG00000139874 HGNC:11330 01673 182451 REVIEWED 5683942 SSU72P2 SSU72 pseudogene 2 11 11 11 p15.4 11366 11554 - 4263286 4263880 - 4242056 4242650 - 21139048 390031 ABBA01032032;AC018793;AMYH02024237;CH471158;NG_008908 EAX02585 APPROVED pseudo HGNC:43621 INFERRED 5683939 SSU72P4 SSU72 pseudogene 4 11 11 11 p15.4 4258902 4259496 + 4308729 4309323 - 4287499 4288093 - 441584 AC018793;AMYH02024237;NG_008912 APPROVED pseudo HGNC:43623 INFERRED 5683940 SSU72P5 SSU72 pseudogene 5 11 11 11 p15.4 2849 3443 + 4254508 4255102 + 4233278 4233872 + 196120 ABBA01032033;AC018793;AMYH02024237;NG_008904 APPROVED pseudo HGNC:43624 INFERRED 5683937 SSU72P3 SSU72 pseudogene 3 11 11 11 p15.4 4267724 4268309 - 4351094 4351679 + 4329864 4330449 + 16554811 143506 ABBA01017184;AC018793;AMYH02024238;NG_008900 APPROVED pseudo HGNC:43622 INFERRED 1343520 SSTR3 somatostatin receptor 3 This gene encodes a member of the somatostatin receptor protein family. Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This protein is functionally coupled to adenylyl cyclase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 22 q13.1 21403286 21409394 - 37600277 37616472 - 37204237 37220438 - 1580863;2325002;2325008;6480464;8554872 11879809;7956902 10591208;11344221;11472428;11753241;12021920;12376335;12414882;12474541;12477932;1337145;1346068;15197339;15461802;15489334;16214911;17679363;17683502;18066572;18240029;18577758;18676680;18936524;19071123;19086053;19170196;19330452;19423539;19625176;19692168;20182388;20237496;20424473;20570798;20602615;20629740;20634197;20717067;20734064;20810604;20834067;21503779;22419713;22889411;23991955;2834384;8097479;8183236;8405411;8449518;8961277;9125122;9177396;9205124;9295322 6753 P32745;Q86YF2 ABBA01055461;AK291165;AMYH02038330;AY277678;AY322541;BC042068;BC096829;BF513812;BF514979;BF515539;BU584980;CH471095;CR456585;HB975872;JC341409;KF457445;KF510596;KF511460;M96738;NM_001051;NM_001278687;XM_005261721;XM_006724311;Z82188 AAA60592;AAH42068;AAH96829;AAP32288;AAP84354;BAF83854;CAG30471;CAK54616;CAK54915;CBE74687;CDM63484;EAW60148;NP_001042;NP_001265616;P32745;XP_005261778;XP_006724374 Hs.225995;Hs.255208 1788372;1788374;1788376;2106649;5492417 G67502;G67503;G67504;SSTR3__5322;UniSTS:480983 SS-3-R;SS3-R;SS3R;SSR-28 OTTHUMP00000197770;somatostatin receptor type 3 APPROVED protein-coding ENSG00000278195 HGNC:11332 01675 182453 REVIEWED 5683938 SSU72P6 SSU72 pseudogene 6 11 11 11 p15.4 4258902 4259496 + 4299927 4300522 + 4278697 4279292 + 643263 AC018793;AMYH02024237;NG_008911 APPROVED pseudo HGNC:43625 INFERRED 5683943 SSU72P7 SSU72 pseudogene 7 11 11 11 p15.4 4258912 4259496 + 4359890 4360474 - 4338660 4339244 - 390033 AC018793;AMYH02024238;NG_008909 APPROVED pseudo HGNC:43626 INFERRED 5683936 SSU72P8 SSU72 pseudogene 8 7 7 7 q31.33 118921724 118922308 + 124116425 124117009 + 124476371 124476955 + 11181995;12690205;9847074 136157 ABBA01057718;AC005521;AMYH02016689;CH236947;CH471070;KF458590;NG_012760 EAL24327;EAW83612 APPROVED pseudo HGNC:43627 INFERRED 1346941 SSTR2 somatostatin receptor 2 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR2 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in cerebrum and kidney. [provided by RefSeq, Jul 2008] 17 17 17 q24 67744235 67751169 + 71161160 71168094 + 73165021 73171955 + 1580863;1358588;2325002;2325008;6480464 10604740;11879809;7956902 10373412;10551867;10619399;11087996;11264236;11344221;11472428;11527930;11753241;11823046;11839658;11920268;12021920;12030911;12210479;12414882;12474541;12477932;12490654;12675130;12684217;1346068;14572771;14576502;14602773;14671213;14695784;14702039;14760765;15118275;15153427;15205362;15231824;15257106;15489334;15754023;15914528;16115892;16214911;16254490;16601140;16606630;16645635;16917505;16954443;16996150;17546456;17603546;17678886;17706924;17848636;18029348;18196892;18234910;18240029;18292657;18325993;18577758;18599562;18617261;18653781;18682975;18695896;18697876;18808065;18852217;18936524;19086053;19106227;19148511;19318729;19322201;19324939;19330452;19389921;19423539;19434240;19575008;19671855;19748526;19759190;19805200;19885591;19913121;20182388;20228164;20233796;20422506;20450431;20453000;20628086;20634197;20717067;20734064;20810604;20819778;20942237;20948194;21215273;21287294;21330405;21383526;21503779;21667819;21832049;22213295;22419713;22472799;22495673;22592599;22640914;22932785;23677175;23794313;23828624;24060005;24098585;24182563;24189142;24565507;24828612;7673428;7914078;7968260;8386508;8449518;9125122;9279525;9305905;9344495;9892014;9892225 6752 P30874 AB065911;ABBA01028872;AC097641;AF184174;AK093950;AK290745;AK313866;AMYH02033957;AY236542;BC000256;BC009522;BC019610;BC095495;BT019926;CH471099;HB975866;HH806424;HH806430;JC341403;L34689;M81830;NG_029371;NM_001050 AAA58248;AAC98545;AAF42809;AAF42810;AAH00256;AAH09522;AAH19610;AAH95495;AAO92064;AAV38729;ABM82206;BAC06126;BAF83434;BAG36594;CBE74681;CBX87732;CBX87733;CDM63481;EAW89111;EAW89112;NP_001041;P30874 Hs.514451 1673174;1742375;1760651;1761449;1788366;1788368;1788370;1790365;2146464;5015961;5016478;5037552 D15S1477;D8S2279;G67499;G67500;G67501;GDB:196511;GDB:434012;RH69041;RH78366;SHGC-144199;SHGC-145456;SSTR2 SRIF-1;SS-2-R;SS2-R;SS2R somatostatin receptor type 2 APPROVED protein-coding HGNC:11331 01674 182452 REVIEWED 2292186 SSX10 synovial sarcoma, X breakpoint 10 ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) p11.23 15772651 100128582 A6NEJ1 AL606490;AL683817;XM_001714824 A6NEJ1;XP_001714876 protein-coding HGNC:34047 1603044 SSUH2 ssu-2 homolog (C. elegans) ASSOCIATED WITH CREATINE PHOSPHOKINASE, ELEVATED SERUM (inferred); Long Qt Syndrome 9 (inferred); Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; copper(2+) sulfate 3 3 3 p26.1 8598077 8630496 - 8661086 8786721 - 8619400 8745040 - 6480464;8554872 12477932;14702039;15489334;16344560;20205943;8125298 51066 C9JAQ0;C9JZA7;F8WDP2;F8WDV4;F8WED9;G5E9S6;Q9Y2M2 AA622964;AB024705;ABBA01020417;AC034187;AC068312;AK057972;AK093025;AK093066;AK122938;AK225925;AK300175;AMYH02006221;BC025690;BC043244;BC052614;CH471055;DB010779;FB505657;FB505659;KF457567;NM_001256748;NM_001256749;NM_015931;NR_046358;XM_005265193;XM_005265194;XM_006713186;XR_427277 AAH52614;BAA76932;BAG52646;BAH13229;CAV32836;CAV32838;EAW63941;EAW63942;EAW63943;NP_001243677;NP_001243678;NP_057015;Q9Y2M2;XP_005265250;XP_005265251;XP_006713249 Hs.736935;Hs.740735 C3orf32;FLJ35706;SSU-2;fls485 OTTHUMP00000151156;OTTHUMP00000207052;hypothetical protein LOC51066;protein SSUH2 homolog;protein ssu-2 homolog;uncharacterized protein C3orf32 APPROVED protein-coding ENSG00000125046 HGNC:24809 11267 VALIDATED 1343303 SSX2 synovial sarcoma, X breakpoint 2 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 727837, located about 45 kb downstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013] X X X p11.22 56373884 56383260 + 52725946 52736277 - 52696896 52707227 - 1580863;6480464;7240710;8699517 10749136;11076863;11256614;11274403;11368913;12007189;12037676;12216073;12477932;15489334;15489336;15596411;15735574;15772651;16152617;16381901;16546222;19337376;21996728;22007079;22344619;22393780;22439931;22550415;22594313;22797074;22862905;22976541;23109999;23313505;23619976;23623359;24130893;7495284;7539744;7655467;7951320;8152806;8840996;9285793 6757 Q16385;Q9NZK4;R9QTR3 ABBA01048008;AC244505;AF190791;AL450023;AL596242;AMYH02039410;AMYH02039411;AMYH02039412;AMYH02039413;AMYH02039414;AMYH02039415;AMYH02039416;AMYH02039417;AMYH02039418;AMYH02039419;AMYH02039420;AMYH02039421;AMYH02039422;AMYH02039423;AMYH02039424;AMYH02039425;AMYH02039426;AMYH02039427;BC002818;BC007343;BC016957;BC069313;BC071827;BC103863;BG104299;BI560469;CH471266;CS017256;CS017258;JX014236;NM_001278697;NM_003147;NM_175698;X86175;Z49105;Z49106 AAF44724;AAH02818;AAH07343;AAH16957;AAH69313;AAH71827;AAI03864;ABZ92236;AGC59876;CAA60111;CAD18884;CAI54191;CAI54192;CAL38677;EAW55861;EAW55862;EAW55863;NP_001265626;NP_003138;NP_783629;Q16385 Hs.289105;Hs.661107 5107955;5114531;5117262 GDB:454738;STS-H99655;STS-Z49105 CT5.2;CT5.2a;HD21;HOM-MEL-40;MGC119055;MGC15364;MGC3884;SSX;SSX2B OTTHUMP00000024290;OTTHUMP00000024291;cancer/testis antigen 5.2;cancer/testis antigen family 5, member 2a;sarcoma, synovial, X-chromosome-related 2;synovial sarcoma, X breakpoint 2, isoform b;synovial sarcoma, X breakpoint 2B;tumor antigen HOM-MEL-40 APPROVED protein-coding ENSG00000241476 HGNC:11336 02180 300192;300813 REVIEWED 1345829 SSX3 synovial sarcoma, X breakpoint 3 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. [provided by RefSeq, Jul 2013] X X X p11.23 52402209 52412488 - 48205863 48216203 - 48346428 48356753 - 1580863;6480464 10749136;12007189;12216073;12477932;15489334;15772651;20211142;20946665;8697803;9378559 10214 Q99909 AA609599;ABBA01052467;ABBA01052468;ABBA01052469;AK310348;AK310513;AL606490;AMYH02039296;BC005904;BC103862;CH471164;DB444418;NG_012561;NM_021014;S82471;U90840;XM_005272579 AAB37436;AAC05819;AAH05904;AAI03863;EAW59347;EAW59348;EAW59349;NP_066294;Q99909;XP_005272636 Hs.558445 CT5.3;MGC119054;MGC14495 Kruppel-associated box containing gene product SSX3;OTTHUMP00000023246;OTTHUMP00000023247;cancer/testis antigen 5.3;synovial sarcoma, X breakpoint 3, isoform a APPROVED protein-coding ENSG00000165584 HGNC:11337 02265 300325 REVIEWED 1347099 SSX4 synovial sarcoma, X breakpoint 4 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4, represents the more telomeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] X X X p11.23 1 526 + 48242968 48252785 + 48383527 48393343 + 1580863;6480464 10359553;11107170;11179834;11368913;11433527;12007189;12037676;12216073;12477932;15489334;15772651;15814740;16189514;20211142;21347689;23625514;24710929;9378559 6759 O60224 ABBA01019089;AL606490;AMYH02039296;AMYH02039297;AMYH02039298;AX740218;BC005325;BC103864;BC137394;BC137395;NM_005636;NM_175729;U90841;XM_006726844 AAC05820;AAH05325;AAI03865;AAI37395;AAI37396;ABZ92238;CAD90570;NP_005627;NP_783856;O60224;XP_006726907 Hs.558402 1698568;5114531 RH102836;STS-H99655 CT5.4;MGC119056;MGC12411;SSX4B OTTHUMP00000024292;OTTHUMP00000216158;cancer/testis antigen 5.4 APPROVED protein-coding ENSG00000268009 HGNC:11338 02266 300326 REVIEWED 1606578 SSX5 synovial sarcoma, X breakpoint 5 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2013] X X X p11.23 52242468 52253581 - 48045656 48056199 - 48186220 48196763 - 6480464 10749136;11107170;11179834;12007189;12216073;12477932;15489334;15772651;16224274;16546222;17023585;20211142;21880588;9378559;9688183 6758 O60225;Q5JQ63 ABBA01052446;ABBA01052447;ABBA01052448;AC245047;AL356464;AL683817;AMYH02039293;BC016640;BE896093;CH471164;NG_012529;NM_021015;NM_175723;U90842 AAC05821;AAH16640;ABZ92237;ADR82771;CAI40522;CAI40523;CAI40524;CAI41130;CAI41133;CAI41134;EAW59342;EAW59343;NP_066295;NP_783729;O60225 Hs.166198 MGC9494 OTTHUMP00000023239;OTTHUMP00000023240 APPROVED protein-coding ENSG00000165583 HGNC:11339 02267 300327 REVIEWED 1353514 SSX6 synovial sarcoma, X breakpoint 6 (pseudogene) This gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene is classified as a pseudogene because a splice donor in the 3' UTR has changed compared to other family members, rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Aug 2009] X X X p11.2 52163320 52176024 + 47967367 47980068 + 48107982 48120686 + 1580863;6480464;8554872 11107170;12216073;12477932;15772651;17117414 280657 Q7RTT6 ABBA01052435;ABBA01052436;AC244636;AK302765;AL356464;AL356797;AMYH02039292;BK000686;CH471164;NR_028366;Z98304 AAI48533;AAI53126;BAH13799;CAI40525;DAA00373;EAW59339;EAW59340;Q7RTT6 Hs.511998 FLJ53113;SSXP2;dJ54B20.1;psiSSX2 APPROVED pseudo HGNC:19652 18109 300541 REVIEWED 1604130 SSX4B synovial sarcoma, X breakpoint 4B The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4B, represents the more centromeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] X X X p11.23 1 9682 - 48261524 48271355 - 48402082 48411910 - 6480464 10359553;11107170;11179834;11368913;12107412;12216073;12477932;15489334;15772651;15814740;16189514;7566098;9378559 548313 O60224 AA312651;AF196972;AL606490;AMYH02039298;AMYH02039299;AMYH02039300;AMYH02039301;AX740218;BC005325;BC103864;BC137394;BC137395;BE866727;CD671168;NM_001034832;NM_001040612;U90841 AAC05820;AAH05325;AAI03865;AAI37395;AAI37396;AAI48552;AAI53139;CAD90570;NP_001030004;NP_001035702;O60224 Hs.558402;Hs.648298 1698568;5114531 RH102836;STS-H99655 CT5.4;MGC169015;MGC169016;SSX4 OTTHUMP00000023258;OTTHUMT00000056510;cancer/testis antigen 5.4 APPROVED protein-coding ENSG00000269791 HGNC:16880 REVIEWED 1354257 SSX1 synovial sarcoma, X breakpoint 1 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX2 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2013] X X X p11.23 528 1687 + 48114752 48126879 + 48255317 48267444 + 1580863;6480464;7240710;8699517;8554872 10072425;11734557;12007189;12037676;12216073;12477932;12696068;15489334;15735574;15772651;16152617;16247461;17667940;18267106;18714179;19204726;19212631;19559255;19936258;20198325;20211142;21454665;22393780;22976541;23021509;23540691;23623359;23691490;23701986;23716114;24130893;24710929;7539744;7655467;7951320;8406438;8825641 6756 Q16384 ABBA01052455;ABBA01052456;ABBA01052457;ABBA01052458;AC245047;AL683817;AMYH02039294;AMYH02039295;BC001003;BC125151;BC128611;BC133693;BC150487;BE777476;BF211314;BI831262;BQ774004;CH471164;NG_012528;NM_001278691;NM_005635;X86174 AAH01003;AAI25152;AAI28612;AAI33694;AAI50488;ABM81899;ABW03372;CAA60110;CAI41141;EAW59344;NP_001265620;NP_005626;Q16384 Hs.434142 CT5.1;MGC150425;MGC5162;SSRC OTTHUMP00000023245;cancer/testis antigen 5.1;cancer/testis antigen family 5, member 1;sarcoma, synovial, X-chromosome-related 1 APPROVED protein-coding ENSG00000126752 HGNC:11335 02428 300813;312820 REVIEWED 1348093 SSX8 synovial sarcoma, X breakpoint 8 ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; arsane (ortholog); arsenic atom (ortholog) X X X p11.23 56446181 56457188 - 52651985 52662998 + 52622935 52633948 + 1580863;6480464 12216073;15772651 280659 Q7RTT4 ABBA01048012;ABBA01048013;AK302291;AL450023;AMYH02039407;BK000688;CH471266;DC399111;NR_027250 BAG63631;DAA00375;EAW55866;EAW55867;EAW55868;Q7RTT4 Hs.694472 pseudo HGNC:19654 06728 300543 VALIDATED 736522 SSX2IP synovial sarcoma, X breakpoint 2 interacting protein This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009] 1 1 1 p22.3 83353285 83400131 - 85109390 85156440 - 84643707 84690757 - 6480464 10231032;11076863;11230166;11256614;12007189;12446711;12477932;14702039;15489334;15489336;16112646;16381901;16565220;17686061;17904521;18028484;19179477;19322201;19615732;21890473;21906983;21963094;21988832;22797925;23443559;23452395;23455924;24255178;24722188 117178 B7ZB07;C9JIX7;Q9Y2D8;S4R2Y6;S4R403 AB023140;ABBA01045651;ABBA01045652;AC114482;AK001710;AK021515;AK023097;AK093173;AK292475;AK294057;AK307336;AK316472;AL133046;AMYH02001378;AY367055;AY651262;BC033637;BC035580;BC064389;CH471097;NM_001166293;NM_001166294;NM_001166295;NM_001166417;NM_014021;XM_005270427;XM_005270428;XM_005270429;XM_006710330;XM_006710331;XM_006710332 AAH33637;AAH64389;AAQ72373;ABM82062;ABM85241;BAA76767;BAF85164;BAG50966;BAG52668;BAG57404;BAH14843;CAB61373;CAL38518;EAW73223;EAW73224;EAW73225;EAW73226;EAW73227;EAW73228;NP_001159765;NP_001159766;NP_001159767;NP_001159889;NP_054740;Q9Y2D8;XP_005270484;XP_005270485;XP_005270486;XP_006710393;XP_006710394;XP_006710395 Hs.22587 1654453;1665460;1857873;2121092;2164126;2171599;2184782 Cda0bg12;D1S2362;SHGC-24006;SHGC-75067;SHGC-75071;SHGC-75077;SHGC-75078 ADIP;FLJ10848;KIAA0923;MGC75026 OTTHUMP00000011574;OTTHUMP00000036082;SSX2-interacting protein;afadin DIL domain-interacting protein;afadin- and alpha-actinin-binding protein APPROVED protein-coding ENSG00000117155 HGNC:16509 10566 608690 REVIEWED 1350884 SSX9 synovial sarcoma, X breakpoint 9 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. [provided by RefSeq, Jul 2008] X X X p11.23 52351422 52360460 - 48160985 48165614 - 48301550 48306179 - 1580863;6480464 12216073;12477932;15772651;16344560 280660 Q7RTT3 ABBA01052463;AL606490;AMYH02039296;BK000689;CH471164;DB029485;NR_073393 AAI60077;DAA00376;EAW59346;Q7RTT3 Hs.553667 1701952;1734340;5114531 DXS6950;STS-H99655;UniSTS:99030 APPROVED pseudo ENSG00000204648 HGNC:19655 06729 300544 VALIDATED 2311157 SSXP1 SSX family pseudogene 1 X X X 56468082 56475520 - 52634032 52640808 - 52604982 52611758 - 12216073 100996564 ABBA01048015;ABBA01048016;AL450023;AMYH02039407;NG_033927 psiSSX1 pseudo HGNC:30637 INFERRED 1626582 SSX2B synovial sarcoma, X breakpoint 2B The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 6757, located about 45 kb upstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013] X X p11.22 52780281 52790617 + 52751204 52761536 + 6480464 10749136;11256614;12007189;12216073;12477932;15489334;15772651;16712791;7495284;7539744;7655467;7951320 727837 Q16385;R9QTR3 AC244505;AF190791;AL445236;AL450023;AMYH02039407;AMYH02039408;AMYH02039409;AMYH02039410;AMYH02039411;AMYH02039412;AMYH02039413;AMYH02039414;AMYH02039415;AMYH02039416;AMYH02039417;AMYH02039418;AMYH02039419;AMYH02039420;AMYH02039421;BC002818;BC007343;BC016957;BC069313;BC071827;BC103863;BE391023;CB158955;JX014236;NM_001164417;NM_001278701;NM_001278702;X86175;Z49105;Z49106 AAF44724;AAH02818;AAH07343;AAH16957;AAH69313;AAH71827;AAI03864;AGC59876;CAA60111;CAI41623;CAI41624;NP_001157889;NP_001265630;NP_001265631;Q16385 Hs.289105;Hs.661107 5107955;5114531 STS-H99655;STS-Z49105 CT5.2;CT5.2b;HOM-MEL-40;SSX;SSX2 OTTHUMP00000023322;OTTHUMP00000023323;cancer/testis antigen 5.2;cancer/testis antigen family 5, member 2b;synovial sarcoma, X breakpoint 2;tumor antigen HOM-MEL-40 protein-coding ENSG00000268447 HGNC:22263 VALIDATED 2311154 SSXP3 SSX family pseudogene 3 X X X p11.2 52212626 52222589 + 48015808 48025777 + 48156380 48166349 + 12216073 326341 ABBA01052441;ABBA01052442;AC244636;AL356464;AMYH02039293;NG_002580 2112512 DXS9833 psiSSX3 pseudo HGNC:30640 INFERRED 3102876 SSXP10 SSX family pseudogene 10 6 6 6 q22.31 119653524 119654646 + 118910215 118911404 + 118589052 118590241 + 12216073 100287603 ABBA01026027;AMYH02014371;NG_021248;NG_022942;Z99496 psiSSX10 pseudo HGNC:30638 INFERRED 1344094 SSX7 synovial sarcoma, X breakpoint 7 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. [provided by RefSeq, Jul 2008] X X X p11.23 56425229 56436073 + 52673111 52683950 - 52644061 52654900 - 1580863;6480464;8554872 11179834;12216073;15772651 280658 Q7RTT5 ABBA01048009;ABBA01048010;ABBA01048011;AL450023;AMYH02039407;BK000687;CH471266;NM_173358;XM_005262001 AAI40463;DAA00374;EAW55864;EAW55865;NP_775494;Q7RTT5;XP_005262058 Hs.558712 OTTHUMP00000023317 APPROVED protein-coding ENSG00000187754 HGNC:19653 06727 300542 REVIEWED 2799014 SSXP6 SSX family pseudogene 6 X X X p11.2 53374079 53374152 - 48291580 48291653 + 48433201 48433274 + 12216073 326587 AF196972;AMYH02039304;NG_002585 psiSSX6 pseudo HGNC:30643 INFERRED 2311155 SSXP5 SSX family pseudogene 5 X X p11.2 52701572 52707631 + 52672522 52678581 + 12216073 326339 ABBA01048009;AL450023;AMYH02039427;NG_002579 psiSSX5 pseudo HGNC:30642 INFERRED 2799012 SSXP7 SSX family pseudogene 7 X X X p11.2 53364376 53365834 - 48299898 48301356 + 48441519 48442977 + 12216073 326590 ABBA01045997;AF196972;AMYH02039304;NG_002587 psiSSX7 pseudo HGNC:30644 INFERRED 1343405 ST11 suppression of tumorigenicity 11 (pancreas) 9218518 8466 HGNC:11341 602011 1348550 ST13P suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 20 20 p11.22 22326154 22328083 + 22252579 22254508 + 18849991;18849994 170553 AL049737;NG_001058 FAM10A2;FAM10A2P;dJ828K20.1 pseudo HGNC:16591 2311156 SSXP4 SSX family pseudogene 4 X X X p11.2 56480691 56482187 - 52626992 52628491 + 52597942 52599441 + 12216073 326337 ABBA01048017;AL450023;AMYH02039407;NG_002578 SSX10;psiSSX4 pseudo HGNC:30641 INFERRED 2799015 SSXP8 SSX family pseudogene 8 X X X p11.2 52332574 52335333 + 48136027 48138786 + 48276592 48279351 + 12216073 326585 ABBA01052460;AC245047;AL606490;AMYH02039295;NG_002583 psiSSX8 pseudo HGNC:30199 INFERRED 2799013 SSXP9 SSX family pseudogene 9 X X X p11.2 52377986 52384166 + 48181628 48187807 + 48322193 48328372 + 12216073 326586 AL606490;AMYH02039296;NG_002584 2181438 DXS8196 psiSSX9 pseudo HGNC:30645 INFERRED 733794 ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013] 22 22 22 q13.2 25024269 25056358 - 41220539 41253012 - 40824535 40857008 - 1580863;2326084;6480464 16356826 10508479;10591208;10702249;10781595;11093761;11559757;11687574;11751889;12477932;15071092;15174051;15231748;15461802;15489334;15637739;15647277;15664198;15845543;16169070;16358374;16807684;17013759;17081983;17324930;17535810;18654987;18781797;19056867;19322201;19471022;19738201;19875381;20193743;20512919;20534503;20936779;21139048;21163940;21240662;21319273;21728385;21767636;21875946;21890473;21900206;21906983;21963094;21987572;22053931;22505724;22863883;22939629;23000965;23125081;23383273;23824909;24474696;24816145;25036637;8721986;8887650;8889548;9292708;9387309;9452498;9594214;9857057;9925927 6767 B4E0U6;F6VDH7;F8WAQ7;H7C3I1;P50502;Q0IJ56 ABBA01055609;AF116650;AK130770;AK303530;AK312399;AK316155;AMYH02038422;AY513286;AY826824;AY826825;BC015317;BC052982;BC071629;BC101206;BC101207;BC101208;BC107148;BC121107;BC121108;BC139724;BG706239;BM679025;CH471095;CR456586;NM_001278589;NM_003932;U17714;U28918;Z98048 AAB38382;AAC97526;AAF71070;AAH15317;AAH52982;AAH71629;AAI07149;AAI21108;AAI21109;AAI39725;AAT08039;AAX18644;AAX18645;BAG64558;BAH14526;CAG30472;CAK54617;CAK54916;EAW60394;EAW60395;EAW60396;NP_001265518;NP_003923;P50502 Hs.712713 1681308;1687888;1723705;1798222;2168402;2168404;5109729;5117170;5493163 A001Y34;D12S1174E;D22S980E.1;G19794;GDB:451586;RH118753;RH92006;ST13_2133;UniSTS:484527 AAG2;FAM10A1;FAM10A4;FLJ27260;HIP;HOP;HSPABP;HSPABP1;MGC129952;P48;PRO0786;SNC6 Hsp70-interacting protein;OTTHUMP00000199376;aging-associated protein 2;heat shock 70kD protein binding protein;hsc70-interacting protein;progesterone receptor-associated p48 protein;putative tumor suppressor ST13;renal carcinoma antigen NY-REN-33;suppression of tumorigenicity 13 (colon carcinoma) hsp70-interacting protein;suppression of tumorigenicity 13 protein APPROVED protein-coding ENSG00000100380 HGNC:11343 08426 606796 REVIEWED 4140029 ST13P1 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 1 2 2 2 p25.1 12080840 12081912 + 12163686 12164758 + 12023560 12024632 + 23251661 729992 ABBA01015658;AC013471;AMYH02003295;NG_021556 pseudo HGNC:38715 INFERRED 4139968 ST13P12 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 12 5 5 5 q14.2 78169313 78177570 + 82264709 82272966 + 82968890 82977147 + 100127911 ABBA01062078;AC027338;AMYH02011707;NG_021887 pseudo HGNC:38787 INFERRED 4140313 ST13P10 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 10 11 11 11 q23.1 109291014 109292094 - 112138019 112139094 - 112267296 112268371 - 399950 ABBA01039797;AMYH02025587;AP002884;NG_021804 pseudo HGNC:38745 INFERRED 4140077 ST13P13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 13 10 10 10 q24.33 98715756 98716841 + 104975466 104976551 + 103215709 103216794 + 23974872 401648 ABBA01063116;AL360001;AMYH02023722;NG_022189 pseudo HGNC:38788 INFERRED 4140335 ST13P16 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 16 6 6 6 88572908 88573688 - 88154116 88154896 - 87444398 87445178 - 100422605 ABBA01040494;AL049697;AMYH02014054;NG_025845 pseudo HGNC:38851 INFERRED 4140337 ST13P15 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 15 3 3 3 141658703 141659809 - 143235965 143237071 - 143517123 143518229 - 100422603 ABBA01059013;AC073358;AMYH02007829;NG_025637 pseudo HGNC:38850 INFERRED 4140336 ST13P14 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 14 3 3 3 50887937 50888533 - 50914496 50915092 - 50877065 50877661 - 100422602 ABBA01024536;AC131013;AMYH02006777;NG_025579;NG_028012 pseudo HGNC:38849 INFERRED 4140167 ST13P11 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 11 11 11 11 q21 91933990 91935080 + 94646212 94647302 + 94913047 94914137 + 728162 ABBA01040023;AMYH02025374;AP002383;NG_021831 pseudo HGNC:38746 INFERRED 4139969 ST13P2 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 2 2 2 2 q32.1 182285840 182286945 + 188690068 188691173 + 187825341 187826446 + 344328 ABBA01062355;AC093377;AMYH02005413;NG_021594 pseudo HGNC:38716 INFERRED 4140328 ST13P18 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 18 X X X q21.32 93067986 93069009 - 92542735 92543758 - 93287736 93288759 - 643310 ABBA01064959;AL589877;AMYH02039971;NG_022623 pseudo HGNC:38861 INFERRED 4140052 ST13P20 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 20 1 1 1 p31.1 80420055 80421413 + 82187385 82188743 + 81721700 81723058 + 729828 ABBA01074355;AL358939;AMYH02001355;NG_022788 1727713 G63120 pseudo HGNC:38863 INFERRED 6480898 ST13P22 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 22 12 12 102166892 102167199 - 101773114 101773421 - 100874521 ABBA01053237;AC063950;AMYH02027073;NG_032222 pseudo HGNC:38865 INFERRED 1346696 ST13P3 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 3 12 12 12 q23.3 106074973 106077569 + 106409591 106412187 + 106015813 106018409 + 12079276 144638 ABBA01053173;AC011595;AMYH02027126;NG_004762 FAM10A3;FAM10A3P APPROVED pseudo HGNC:18552 INFERRED 4140166 ST13P17 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 17 7 7 7 q34 133925370 133926730 + 139187200 139188560 + 139502454 139503814 + 442730 ABBA01001192;AC005531;AMYH02016888;CH236950;NG_022574 pseudo HGNC:38859 INFERRED 1352140 ST13P5 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 5 FOUND IN cytoplasm (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3H-1,2-dithiole-3-thione (ortholog) 11 11 11 p15.1 18415739 18417355 + 18283432 18285048 + 18261885 18263501 + 1580863;6480464 12079276;21906983;21987572;24816145 144106 Q8NFI4 ABBA01061059;AC107948;AF512499;AMYH02024387;NG_005653;NG_021330 AAM44055;Q8NFI4 Hs.567697 FAM10A5 APPROVED pseudo HGNC:18556 13288 INFERRED 1348593 ST13P4 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4 FOUND IN extracellular vesicular exosome 13 13 13 q14.3 31800773 31802371 + 50746154 50747752 + 50172018 50173616 + 1580863 12079276;16807684;17081983;20190752;21906983;22797925;24654937;24816145 145165 Q8IZP2 ABBA01051035;AF539468;AL157367;AMYH02028022;NR_002183 AAN16377;Q8IZP2 Hs.511834 FAM10A4;FAM10A4P APPROVED pseudo HGNC:18487 PROVISIONAL 4139977 ST13P19 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 19 1 1 1 q32.2 183662372 183663975 - 210438982 210440584 - 210265637 210267239 - 100131961 ABBA01048203;AL035414;AMYH02002605;NG_022751 1858124 SHGC-76297 pseudo HGNC:38862 INFERRED 1347927 ST13P6 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 6 8 8 8 q24.22 130597491 130599152 + 134420107 134421768 + 133407864 133409525 + 12079276 157530 ABBA01014196;AF186191;AMYH02018812;NG_007353 FAM10A6;FAM10A6P APPROVED pseudo HGNC:18557 INFERRED 1350772 ST13P7 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 7 7 7 7 q33 127604291 127606888 - 132852760 132855356 - 133168002 133170598 - 12079276;12477932 155019 ABBA01001100;AC083873;AMYH02016788;CH236950;NG_008738 FAM10A7;FAM10A7P APPROVED pseudo HGNC:18558 INFERRED 4140068 ST13P8 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 8 12 12 12 q14.1 58036175 58037141 - 58377578 58378544 - 57983795 57984761 - 23251661 338805 ABBA01026690;AC084033;AC090643;AMYH02026599;NG_021690 1339336;1677050;1705568;1847453;2141567 D12S1529;D12S2062;D12S90;RH15609;SHGC-83889 pseudo HGNC:38743 INFERRED 4140362 ST13P21 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 21 1 1 1 p13.3 107314951 107316024 + 109045001 109046074 + 108502379 108503452 + 642818 ABBA01068350;AL392088;AMYH02001696;NG_022797 pseudo HGNC:38864 INFERRED 1347794 ST2 suppression of tumorigenicity 2 6761 HGNC:11347 185440 736954 ST18 suppression of tumorigenicity 18, zinc finger ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); zinc ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cadmium sulfate; cytarabine; kojic acid 8 8 8 q11.23 49013896 49312800 - 53023392 53322439 - 52110832 52409879 - 1580863;6480464;8554872 12107411;12477932;15489334;15489893;16344560;18676404;20379614;22437316;23505305;23535033;23847314;24509857;9628581 9705 E5RFE8;E5RHS3;E5RHY1;E5RID0;E5RK88;O60284 AB011107;ABBA01041697;ABBA01041698;ABBA01041699;AC021915;AC103831;AK311188;AMYH02017973;AMYH02017974;AMYH02017975;BC031075;BC117147;BC117149;BC143871;BC143872;BC143873;BC143875;BQ639545;CH471068;DA288225;NM_014682;XM_006716487;XM_006716488;XM_006716489;XM_006716490 AAI17148;AAI17150;BAA25461;EAW86715;EAW86716;EAW86717;NP_055497;O60284;XP_006716550;XP_006716551;XP_006716552;XP_006716553 Hs.655499 1298285;1341631;1697640;1708114;1715945;1717429;1752077;1772631;1851628;1857303;2110765;2128580;2175534;2176212 D8S1110;D8S1833;D8S1933;D8S2071;D8S567;RH102335;RH122205;RH122708;SHGC-106019;SHGC-35973;SHGC-53515;SHGC-81457;ST18_2399;STS-R27812 KIAA0535;NZF3;ZC2HC10;ZNF387 OTTHUMP00000226230;neural zinc finger factor 3;neural zinc finger transcription factor 3;suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein);suppression of tumorigenicity 18 protein;zinc finger protein 387 APPROVED protein-coding ENSG00000147488 HGNC:18695 18110 VALIDATED 1626538 ST20 suppressor of tumorigenicity 20 INTERACTS WITH (S)-nicotine; 17beta-estradiol; copper atom 15 15 15 q25.1 57127488 57152383 - 80191182 80216096 - 79898840 79923754 - 6480464 11857354;20967262;24024966 400410 Q9HBF5 AA282293;ABBA01060616;AC015871;AF249277;AL109714;AMYH02030878;BM559302;BQ680929;CH471136;NM_001100879;NM_001100880;NM_001199757;NR_037652;NR_037653 AAG17280;EAW99130;NP_001094349;NP_001094350;NP_001186686;Q9HBF5 Hs.729127 1662757;1689626;1723247;1769363;1853733;2220658 RH122310;RH68628;RH93686;SHGC-64943;STS-U27467;UniSTS:487268 HCCS-1 cervical cancer suppressor-1;human cervical cancer suppressor gene 1 protein;suppressor of tumorigenicity 20 protein protein-coding ENSG00000180953 HGNC:33520 VALIDATED 7205260 ST20-MTHFS ST20-MTHFS readthrough This locus represents naturally occurring read-through transcription between the neighboring suppressor of tumorigenicity 20 and 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) genes on chromosome 15. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] 15 15 q25.1 80135889 80215448 - 79843547 79923106 - 6480464 24024966 100528021 P49914 ABBA01060616;AC015871;AC021483;AMYH02030878;BG705061;CK002935;DB495490;NM_001199760 NP_001186689 Hs.459049 1650678;1662627;1673189;1850702 RH17648;RH77833;RH78912;WI-20294 protein-coding HGNC:44655 VALIDATED 1603158 ST20-AS1 ST20 antisense RNA 1 INTERACTS WITH acetaldehyde; ethyl methanesulfonate; formaldehyde 15 15 15 q25.1 57151419 57153502 + 80215113 80217196 + 79922771 79924854 + 6480464 12477932;14702039;24024966 283687 Q8NBB2;Q96AL6 ABBA01060616;AC015871;AK091107;AK092679;AMYH02030878;BC016975;BC101201;BC101202;BC101203;BG677098;NR_028330 AAH16975;AAI01202;AAI01203;AAI01204;BAC03584;Q8NBB2 Hs.722219 2220658;5037552 D8S2279;UniSTS:487268 FLJ33788 APPROVED ncrna HGNC:27521 14147 VALIDATED 4139978 ST13P9 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 9 12 12 12 p11.1 13414563 13415672 + 33607281 33608390 + 33454346 33455455 + 390301 ABBA01031691;AC016956;AMYH02026314;NG_021711 pseudo HGNC:38744 INFERRED 1342745 ST3 suppression of tumorigenicity 3 ASSOCIATED WITH SUPPRESSOR OF TUMORIGENICITY 3 (inferred) 7240710 6762 HGNC:11348 191181 7241713 ST3GAL1P1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 pseudogene 1 4 4 4 66044462 66045472 - 68582096 68583106 - 67716378 67717388 - 100421804 ABBA01022900;AC079880;AMYH02009378;NG_025114 pseudo HGNC:45174 INFERRED 1348054 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 55055306 55114849 + 70413338 70472991 - 70379435 70439088 - 6480464;6907045 12477932;12504121;12716912;14702039;15489334;16169070;18029348;2187500;2541446;2542563;2649653;2829950;7655169;8920913;9266697 6483 B3KXG9;Q16842 ABBA01010662;ABBA01010663;ABBA01010664;ABBA01010665;ABBA01010666;ABBA01010667;AC012184;AF086257;AI933719;AK127322;AK313020;AMYH02032301;AMYH02032302;AMYH02032303;AMYH02032304;AMYH02032305;BC036777;BC064480;BI832366;CH471241;FB715178;NM_006927;U63090;X96667 AAB40389;AAH36777;ADZ15923;BAG35855;BAG54481;CAA65447;CAS91689;EAW51818;EAW51819;EAW51820;EAW51821;NP_008858;Q16842 Hs.368611 2123009;2139675;2155149;5015961 D15S1477;SHGC-60683;SHGC-60743;STS-X96667 Gal-NAc6S;SIAT4B;ST3GALII;ST3GalA.2 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2;Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase;OTTHUMP00000174904;SIAT4-B;ST3Gal II;alpha 2,3-ST 2;beta-galactoside alpha-2,3-sialyltransferase 2;beta-galactoside alpha-2,3-sialytransferase;sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase) APPROVED protein-coding ENSG00000157350 HGNC:10863 06220 607188 REVIEWED 7245808 ST3GAL4-AS1 ST3GAL4 antisense RNA 1 (head to head) INTERACTS WITH valproic acid 11 11 11 q24.2 123376770 123390639 - 126211611 126225482 - 126341716 126355587 - 6480464 14702039;16344560 399972 ABBA01031221;AK096370;AMYH02025748;AP001318;BF343672;DA746418;NR_033839 Hs.585206 1652044;1700808;2131480;2131482;2165177 A005N41;A008S31;G20363;RH104029;SHGC-34118 DCPS-AS1 ncrna HGNC:48645 VALIDATED 8695463 ST3GAL5-AS1 ST3GAL5 antisense RNA 1 (head to head) 2 2 p11.2 86116284 86131850 + 85889161 85904727 + 12477932 101928113 ABBA01075770;ABBA01075771;AC012511;AC105053;AMYH02004189;BC036617;BC056236;BI544720;HG494256;NR_110569;XR_245035;XR_249161;XR_251105;XR_425418;XR_425419;XR_427052;XR_427053;XR_431446;XR_431447 Hs.625888;Hs.737637 ncrna HGNC:51129 VALIDATED 7241792 ST3GAL5P1 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 pseudogene 1 5 5 5 33541611 33542177 - 33656215 33656781 - 33656110 33656676 - 100421795 ABBA01066754;AC109491;AMYH02011143;NG_024584 pseudo HGNC:45175 INFERRED 1346095 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p11.2 85894364 85944312 - 86066271 86116157 - 85839147 85889034 - 6480464;6907045;8554872;8699517 10092602;10619706;11030748;11595162;12393190;12477932;12527423;12975309;14702039;15385432;15502825;15815621;16934889;18051367;18187620;18480157;18974200;19415461;19709745;19759399;20219466;20628624;20800603;21571640;21699754;22990144;24026681;8889548;9822625 8869 C9JYS9;E7EPY0;F8WEA8;Q9UNP4 AB018356;ABBA01075770;AC105053;AF105026;AF119415;AF119417;AF119418;AF161396;AF344831;AF488709;AK001340;AK127346;AK295252;AK315955;AMYH02004188;AMYH02004189;AY152815;AY359105;BC009887;BC065936;BI820835;CA503200;CH471053;NG_012807;NM_001042437;NM_003896;XM_005264630;XM_006712127;XR_244967;XR_426999 AAD14634;AAF28956;AAF66146;AAH65936;AAO16866;AAQ89463;AAY24147;BAA33950;BAG50894;BAH12019;BAH14326;EAW99474;EAW99475;EAW99476;EAW99477;EAW99478;EAW99479;EAW99480;NP_001035902;NP_003887;Q9UNP4;XP_005264687;XP_006712190 Hs.415117 1336505;1650220;1670687;1753617;1760957;2110733;2170400;5022200;5022578;5037552;7186134 D1S1423;D2S388;D8S2279;L18426;RH48544;RH70638;SHGC-107513;SHGC-144914;SIAT9__5414;STS-W56550 SATI;SIAT9;SIATGM3S;ST3GalV CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase;GM3 synthase;OTTHUMP00000160672;OTTHUMP00000160673;OTTHUMP00000160674;ST3Gal V;alpha 2,3-sialyltransferase V;ganglioside GM3 synthase;lactosylceramide alpha-2,3-sialyltransferase;sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase);sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase) APPROVED protein-coding ENSG00000115525 HGNC:10872 05098 604402 REVIEWED 1353529 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 11 11 11 q24.2 123391253 123450644 + 126225540 126284536 + 126355645 126414641 + 6480464;6907045;8554872 12375029;12441665;12459555;12477932;12565846;14702039;15342556;15489334;16169070;16344560;17054948;19520807;19781661;19946888;20237496;20379614;20383541;20686565;21140242;21378990;2187500;21906983;21963094;22001757;22691873;23726834;23799130;24097068;24953795;2541446;2542563;2649653;2829950;7588599;7655169;7901202;8288606;8557707;8611500 6484 E9PKJ2;E9PMC7;E9PN64;E9PNJ9;E9PPJ6;E9PQZ2;Q11206;Q6IBE6 ABBA01031221;AF035249;AF516602;AF516603;AF516604;AF525084;AK021929;AK128605;AK291577;AK314738;AL520639;AL529887;AMYH02025748;AMYH02025749;AMYH02025750;AP000806;AP001318;AY040826;BC010645;BI259855;BP320415;CH471065;CR456858;DA210431;DA841563;FB715182;L23767;L29553;NM_001254757;NM_001254758;NM_001254759;NM_006278;X74570;XM_005271649;XM_005271650;XM_005271651;XM_006718896;XM_006718897 AAA16460;AAC14162;AAH10645;AAK93790;AAM66431;AAM66432;AAM66433;AAM81378;ACE86638;ACE87320;BAB13940;BAF84266;BAG37279;CAA52662;CAG33139;CAS91691;EAW67693;EAW67694;EAW67695;EAW67696;EAW67697;NP_001241686;NP_001241687;NP_001241688;NP_006269;Q11206;XP_005271706;XP_005271707;XP_005271708;XP_006718959;XP_006718960 Hs.591947 1653687;1752877;1761721;1763443;1765515;2115950;2128963;2144994;2147085;5118444 D11S3316;G16009;NIB1898;RH16006;SHGC-106774;SHGC-145694;SHGC-147154;SHGC-148997;SIAT4C;STS-L29553 CGS23;FLJ11867;FLJ46764;NANTA3;SAT-3;SAT3;SIAT4;SIAT4-C;SIAT4C;ST-4;ST3GalA.2;ST3GalIV;STZ;gal-NAc6S CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4;OTTHUMP00000231115;OTTHUMP00000231117;OTTHUMP00000231118;OTTHUMP00000231119;OTTHUMP00000231123;OTTHUMP00000231124;OTTHUMP00000231125;OTTHUMP00000231126;OTTHUMP00000231127;OTTHUMP00000231128;alpha 2,3-ST 4;alpha 2,3-sialyltransferase IV;alpha-3-N-acetylneuraminyltransferase;beta-galactoside alpha-2,3-sialyltransferase 4;gal-beta-1,4-GalNAc-alpha-2,3-sialyltransferase;sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase);sialyltransferase 4C (beta-galactoside alpha-2,3-sialytransferase) APPROVED protein-coding ENSG00000110080 HGNC:10864 00084 104240 VALIDATED 1603709 ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008] 8 8 8 q24.22 130644441 130761532 - 134467091 134584697 - 133454848 133572454 - 6480464;6907045 10504389;11690653;12477932;14702039;14722111;15146197;15489334;16053379;17101770;17947642;18163389;18180429;18519826;19199708;19811634;19946888;20200978;20379614;20534593;2187500;21988832;22534569;23275522;23549466;23903073;24002674;24039173;2541446;2542563;2649653;2829950;7655169;8027041 6482 E5RG72;E5RGI3;E5RGL4;E5RH34;E5RHV6;Q11201 ABBA01014195;AC103706;AF059321;AF186191;AK093867;AK311319;AL709325;AL833743;AMYH02018812;BC018357;BC048803;BC063665;BX537506;BX648001;CH471060;CN359425;FB715176;L13972;L29555;NM_003033;NM_173344;XM_005251023;XM_005251024;XM_005251025;XM_006716617 AAA36612;AAC17874;AAC37574;AAH18357;ABM82082;ABM85261;CAS91688;EAW92172;EAW92173;EAW92174;NP_003024;NP_775479;Q11201;XP_005251080;XP_005251081;XP_005251082;XP_006716680 Hs.374257 1341013;1341420;1648508;1658185;1684534;1708552;1759423;1773111;1849745;2111182;2149517;2155781;2178780;5014063;5016781 D15S1390;D8S1708;D8S1990;D8S581E;RH16392;RH17620;RH45430;RH78906;RH98815;SHGC-151193;SHGC-32958;SHGC-67307;SHGC-85058;WI-17797;WI-18021 DKFZp666E036;DKFZp779K2051;FLJ36548;Gal-NAc6S;MGC9183;SIAT4-A;SIAT4A;ST3GalA;ST3GalA.1;ST3GalI;ST3GalIA;ST3GalIA,1;ST3O CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1;Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase;OTTHUMP00000226912;OTTHUMP00000226913;SIATFL;alpha 2,3-ST 1;beta-galactoside alpha-2,3-sialyltransferase 1;sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase);sialyltransferase 4A (beta-galactoside alpha-2,3-sialyltransferase);sialyltransferase 4A (beta-galactoside alpha-2,3-sialytransferase) APPROVED protein-coding ENSG00000008513 HGNC:10862 06219 607187 REVIEWED 6481165 ST3GAL6-AS1 ST3GAL6 antisense RNA 1 3 3 98433174 98451495 - 98714333 98732651 - 100874207 ABBA01061816;AC106728;AMYH02007290;BG821580;CA310342;HG495844;HG495845;HG495846;NR_046683 Hs.633553 RP11-319J24.1 APPROVED ncrna ENSG00000239445 HGNC:40828 VALIDATED 1350060 ST4 suppression of tumorigenicity 4 (malignant melanoma) 1680551 6763 HGNC:11349 733374 ST14 suppression of tumorigenicity 14 (colon carcinoma) The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008] 11 11 11 q24-q25 127197379 127248136 + 130029682 130080257 + 130159787 130210362 + 1580863;2315087;2315088;2315089;2315090;2315092;2315093;2315091;6480464;7240710;8699517;8554872 16021568;16439987;16501837;17163404;17456594;18813126;19443387 10373424;10373425;10500122;10831593;10962009;11125283;11290548;11792696;11864986;12372819;12477932;12498394;12738778;14584072;14747469;15075215;15200890;15489334;15611789;16007225;16103220;16237759;16273651;16341674;16353247;16407223;16794252;16820046;17131055;17228523;17273967;17344310;17389401;17940283;17978729;17981566;17981575;18263585;18274158;18514224;18550704;18649735;18649738;18713750;18723439;18843291;19242518;19535514;19546220;19578749;19911255;19940125;20015050;20142489;20145119;20379614;20601429;20652801;20696767;20716618;20971737;21097670;21098708;21123732;21148558;21217780;21678412;21795523;21906983;21963094;21988832;22031598;22035541;22081509;22088470;22118498;22154938;22514623;22582115;22783993;22811538;23044656;23192872;23248318;23365447;23443661;23443662;23466486;23673661;23900022;24004857;24070417;24248283;24617769;9925927 6768 Q9Y5Y6 AB030036;ABBA01023031;ABBA01023032;ABBA01023033;AF057145;AF118224;AF133086;AF283256;AK302454;AK314173;AMYH02025786;AMYH02025787;AP001183;BC005826;BC018146;BC030532;BM791311;BQ059215;CH471065;NG_012132;NM_021978 AAD42765;AAF00109;AAG13949;AAG15395;AAH05826;AAH18146;AAH30532;ABM82552;ABM85368;BAB20376;BAG36856;BAG63749;EAW67776;NP_068813;Q9Y5Y6 Hs.504315 1712102;1718055;1790891;2106327;2106329;7184135 6-38576;D6S2443;D6S2662;G54100;RH122645 ARCI11;HAI;MT-SP1;MTSP1;PRSS14;SNC19;TADG15;TMPRSS14 OTTHUMP00000230931;OTTHUMP00000230932;membrane-type serine protease 1;prostamin;serine protease 14;serine protease TADG-15;suppression of tumorigenicity 14;suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin);suppressor of tumorigenicity 14 protein;tumor associated differentially expressed gene 15 protein;tumor-associated differentially-expressed gene 15 protein APPROVED protein-coding ENSG00000149418 HGNC:11344 06005 602400;606797 REVIEWED 6481068 ST6GAL2-IT1 ST6GAL2 intronic transcript 1 (non-protein coding) q12.2 100874354 AC016994;BX112866 Hs.667571 ncrna HGNC:41380 1603708 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 1 1 1 p34.1 42455047 42680364 + 44173204 44396837 + 43707533 43931165 + 6480464;6907045;7240710;8554872 12477932;12697334;12815231;12931020;15316282;15489334;16169070;17120046;17207965;18854154;19727557;19781661;20379614;21782286;2187500;21907012;22959728;23252400;2541446;2542563;2649653;2829950;8027041;8333853;9451034 6487 B4DX62;E9PJI3;E9PJX2;E9PNN5;H0YEP7;Q11203 AA478788;ABBA01050938;ABBA01050939;ABBA01050940;ABBA01050941;ABBA01050942;ABBA01050943;ABBA01050944;ABBA01050945;ABBA01050946;AF425851;AF425852;AF425853;AF425854;AF425855;AF425856;AF425857;AF425858;AF425859;AF425860;AF425861;AF425862;AF425863;AF425864;AF425865;AF425866;AF425867;AF425868;AF425869;AK301829;AK310265;AL357079;AL451062;AL592548;AMYH02000907;AMYH02000908;AY051143;AY167992;AY167993;AY167994;AY167995;AY167996;AY167997;AY167998;BC050380;CH471059;GM603710;KF510206;L23768;NG_028196;NM_001270459;NM_001270460;NM_001270461;NM_001270462;NM_001270463;NM_001270464;NM_001270465;NM_001270466;NM_006279;NM_174963;NM_174964;NM_174965;NM_174966;NM_174967;NM_174968;NM_174969;NM_174970;NM_174971;NR_073016;NR_073017;NR_073018;NR_073019;NR_073020;NR_073021;NR_073023;XM_006710825;XM_006710826;XM_006710827;XM_006710828;XM_006710829;XM_006710830;XM_006710831;XM_006710832;XM_006710833 AAA35778;AAH50380;AAL14347;AAO13859;AAO13860;AAO13861;AAO13862;AAO13863;AAO13864;AAO13865;AAO13866;AAO13867;AAO13868;AAO13869;AAO13870;AAO13871;AAO13872;AAO13873;AAO13874;AAO13875;AAO13876;AAO13877;AAO38806;AAO38807;AAO38808;AAO38809;AAO38810;AAO38811;AAO38812;ADQ33059;BAG63274;CAT03463;EAX07082;EAX07083;EAX07084;NP_001257388;NP_001257389;NP_001257390;NP_001257391;NP_001257392;NP_001257393;NP_001257394;NP_001257395;NP_006270;NP_777623;NP_777624;NP_777625;NP_777626;NP_777627;NP_777628;NP_777629;NP_777630;NP_777631;Q11203;XP_006710888;XP_006710889;XP_006710890;XP_006710891;XP_006710892;XP_006710893;XP_006710894;XP_006710895;XP_006710896 Hs.597915 1341004;1673155;1693022;1722653;1771743;1781826;2108473;2111093;2118807;2148831 AL009731;AL034219;D1S211;D1S353E;G60410;RH47524;SHGC-172020;SHGC-32893;SHGC-74694;SIAT6_8628 EIEE15;MRT12;SIAT6;ST3GALII;ST3GalIII;ST3N CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase;Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase;N-acetyllactosaminide alpha-2,3-sialyltransferase;OTTHUMP00000008811;OTTHUMP00000008812;OTTHUMP00000008813;OTTHUMP00000008814;OTTHUMP00000008815;OTTHUMP00000008816;OTTHUMP00000008817;OTTHUMP00000008819;OTTHUMP00000008820;OTTHUMP00000008821;OTTHUMP00000008822;OTTHUMP00000008823;OTTHUMP00000231087;OTTHUMP00000231088;OTTHUMP00000231089;OTTHUMP00000231091;OTTHUMP00000231092;OTTHUMP00000231094;OTTHUMP00000231096;OTTHUMP00000231140;OTTHUMP00000231141;ST3Gal III;alpha 2,3-ST 3;alpha 2,3-sialyltransferase III;alpha-2,3-sialyltransferase II;beta-galactoside alpha-2,3-sialyltransferase 3;gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase;mental retardation, non-syndromic, autosomal recessive, 12;sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase) APPROVED protein-coding ENSG00000126091 HGNC:10866 05930 606494;611090;615006 REVIEWED 1319089 ST5 suppression of tumorigenicity 5 This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008] 11 11 11 p15 8832533 9052256 - 8714899 8932498 - 8693352 8910951 - 6480464 10229203;10692462;11528127;12477932;1390339;15231748;15489334;15778465;17081983;19843505;19850743;20379614;24250222;8972856;9632734 6764 B4DDL8;E9PI58;E9PI67;E9PI72;E9PII1;E9PJC3;E9PJP0;E9PJY5;E9PK36;E9PKE0;E9PKM1;E9PKN3;E9PKV3;E9PLB6;E9PLD7;E9PLH5;E9PLH6;E9PLR2;E9PM32;E9PM84;E9PME1;E9PMJ9;E9PMP1;E9PN93;E9PNM8;E9PNX7;E9PPL2;E9PPS6;E9PQA9;E9PQM5;E9PQU6;E9PRS6;H0YD60;H0YDL0;H0YE59;H0YEK3;H0YEL1;P78524 ABBA01061203;ABBA01061204;ABBA01061205;ABBA01061206;ABBA01061207;ABBA01061208;ABBA01061209;ABBA01061210;AC026894;AC091053;AJ400879;AK126554;AK127763;AK293245;AK302824;AK307617;AK309929;AK312305;AK312758;AMYH02024294;AMYH02024295;AMYH02024296;AMYH02024297;AMYH02024298;BC036655;BX647431;CH471064;NG_029450;NM_005418;NM_139157;NM_213618;S45936;U15131;U15779;U15780;XM_005253077;XM_005253079;XM_005253080;XM_005253081;XM_005253083;XM_005253084;XM_006718284;XM_006718285 AAB23647;AAB97097;AAC50925;AAC50926;AAH36655;ABM83409;ABM86620;BAC86590;BAG35624;BAG54568;BAG56779;BAG64021;CAC35387;EAW68617;EAW68618;NP_005409;NP_631896;NP_998783;P78524;XP_005253134;XP_005253136;XP_005253137;XP_005253138;XP_005253140;XP_005253141;XP_006718347;XP_006718348 Hs.117715 1339182;1673413;1731531;1738019;1754961;1764053;1773721;1775459;1798224;2125044;2131983;2137724;2141319;2148865;2156728;2160228;2172873;2191783 D11S1047;D11S1069;D11S1250;D11S2404;D11S2610;D11S3629;D11S4962;D11S909;G35676;MARC_7533-7534:996687916:1;RH35822;RH45066;SHGC-141875;SHGC-147713;ST5;ST5_2189;STS-AA041300;WI-19621 DENND2B;HTS1;MGC33090;p126 DENN domain-containing protein 2B;DENN/MADD domain containing 2B;OTTHUMP00000231167;OTTHUMP00000231168;OTTHUMP00000231169;OTTHUMP00000231170;OTTHUMP00000231171;OTTHUMP00000231174;heLa tumor suppression 1;suppression of tumorigenicity 5 protein APPROVED protein-coding ENSG00000166444 HGNC:11350 00780 140750 REVIEWED 1348221 ST6GAL2 ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] 2 2 2 q11.2-q12.1 101627429 101712930 - 107418056 107503563 - 106801600 106887107 - 6480464;6907045;8554872 11347906;12235148;12477932;12603328;14702039;15146197;16344560;19240061;19768537;19850283;20379614;20800603 84620 C9JIK2;H7BY52;Q96JF0 AB058780;AB059555;ABBA01043978;AC005040;AC016994;AC108049;AJ512141;AK055273;AK095049;AK095653;AK307784;AMYH02004496;AMYH02004497;BC008680;BQ016989;CH471127;CN365495;DA176100;FB715162;FJ433885;NG_031986;NM_001142351;NM_001142352;NM_032528;XM_006712801;XM_006712802 AAH08680;AAY15022;ACQ63563;ADZ15392;BAB47506;BAC24793;CAD54408;CAS91680;EAX01742;EAX01743;NP_001135823;NP_001135824;NP_115917;Q96JF0;XP_006712864;XP_006712865 Hs.98265 1654038;1675465;2118783;5014051;5015861;5037552;7185938 D10S16;D8S2278;D8S2279;RH68846;RH92565;STS-M78345 FLJ30711;FLJ37730;FLJ38334;KIAA1877;SIAT2;ST6GalII CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 2;OTTHUMP00000161529;OTTHUMP00000203341;OTTHUMP00000203342;ST6Gal II;alpha 2,6-ST 2;beta-galactoside alpha-2,6-sialyltransferase 2;beta-galactoside alpha-2,6-sialyltransferase II;hST6Gal II;sialyltransferase 2 (monosialoganglioside sialyltransferase) APPROVED protein-coding ENSG00000144057 HGNC:10861 12237 608472 REVIEWED 1601776 ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Three transcript variants encoding two different isoforms have been described. [provided by RefSeq, Aug 2009] 3 3 3 q27-q28 185080508 185228493 + 186648315 186796341 + 186930526 187078553 + 6480464;6907045;8554872 10460832;11320056;11356854;12477932;12499376;12692561;12798701;12878221;12931020;12943659;14514712;14702039;15489334;16053379;16192407;16319516;16344560;17207965;1730763;17441333;17697868;17897958;18650447;19013288;19150807;19170967;19413643;19483685;19709745;20003255;20127017;20379614;20656882;21130132;21140242;21147760;21550977;21778787;21874001;21906983;21930713;22449099;22960999;23358684;23382691;23504322;23549466;2373995;23999306;2408023;24454800;2803295;7615680;7768954;7786324;8144653;8477718;8619474;8702538;8724135;8920923;8953271;8995311;9110174 6480 C9IYS8;C9J6X5;C9JAT4;C9JFM4;C9JH16;C9JI90;C9JKG0;C9JPG6;C9JR47;C9JTR0;C9JVK7;C9K0R8;H7C472;P15907 A17362;A23699;ABBA01058378;ABBA01058379;AC007488;AC007690;AF007133;AK128726;AK292879;AK312023;AMYH02008356;AMYH02008357;BC031476;BC040009;CH471052;DB152155;DB235666;FB715160;KF510844;L11720;NM_003032;NM_173216;NM_173217;X17247;X54363;X62822;XM_005247717;XM_005247719;XM_005247720;XM_006713734 AAH31476;AAH40009;ADQ31971;BAF85568;BAG34960;CAA01327;CAA01686;CAA35111;CAA38246;CAA44634;CAS91678;EAW78158;EAW78159;EAW78160;EAW78161;EAW78162;EAW78163;EAW78164;NP_003023;NP_775323;NP_775324;P15907;XP_005247774;XP_005247776;XP_005247777;XP_006713797 Hs.207459 1743095;1747985;1774229;1854174;2119158;2167513;2220012;5094791 D3S3897;G66759;GDB:252090;RH16625;SIAT1__5407;STS-R00114;STS-X17247;TTTA040 MGC48859;SIAT1;ST6GalI;ST6N B-cell antigen CD75;CMP-N-acetylneuraminate beta-galactosamide alpha-2,6-sialyltransferase;CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 1;OTTHUMP00000210001;OTTHUMP00000210002;OTTHUMP00000210004;OTTHUMP00000210015;ST6Gal I;alpha 2,6-ST 1;beta-galactoside alpha-2,6-sialyltransferase 1;sialyltransferase 1 (beta-galactoside alpha-2,6-sialyltransferase) APPROVED protein-coding ENSG00000073849 HGNC:10860 00184 109675 REVIEWED 1349171 ST6GALNAC1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 71213224 71232267 - 74620838 74639894 - 76624756 76643838 - 6480464;6907045;8554872 10207017;10536037;12477932;12770770;12820722;12975309;15231747;16319059;16344560;17081983;19287074;20378551;20379614;21139048;22228572 55808 G3XAD9;K7EJA8;K7EJC9;K7ELU9;K7EMB6;Q9NSC7;Q9NXQ7 ABBA01028735;ABBA01028736;AC005837;AK000113;AK310906;AMYH02034019;AMYH02034020;AY096001;AY358918;BC022462;BC063830;CB305371;CH471099;DA594489;FB715164;NM_001289107;NM_018414;NR_110309;Y11339;Y11340 AAH22462;AAM22800;AAQ89277;ADZ15387;BAA90953;CAA72179;CAA72180;CAS91682;EAW89419;EAW89420;EAW89421;EAW89422;EAW89423;NP_001276036;NP_060884;Q9NSC7 Hs.105352 2123665;2190359;2190369;2190373 D17S2192;D17S2238;D17S2243;D17S2245 HSY11339;SIAT7A;ST6GalNAcI;STYI GalNAc alpha-2, 6-sialyltransferase I, long form;SIAT7-A;ST6GalNAc I;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1;galNAc alpha-2,6-sialyltransferase I;sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A;sialyltransferase 7A APPROVED protein-coding ENSG00000070526 HGNC:23614 15340 610138 VALIDATED 1349452 ST3GAL6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 The protein encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5'-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. This protein has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selectin ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012] 3 3 3 q12.1 96843261 96904902 + 98451080 98514689 + 98732236 98795845 + 6480464;6907045 10206952;11587543;12477932;14702039;15489334;16344560;17662891;17944600;18485915;19199708;19781661;20532202;20826224;21147760;21832049;22025563;22649524;22700726 10402 C9IZL6;C9J0E2;C9J480;C9J9Y4;C9JMW7;C9JWI9;C9JWJ3;C9JXM2;F2Z2F4;F8WC98;Q9Y274 AB022918;ABBA01061814;ABBA01061815;ABBA01061816;AC106728;AF119391;AK001922;AK315111;AL539506;AMYH02007290;BC001266;BC012092;BC023312;CB960395;CH471052;DB036799;FB715186;HH924881;HI578556;HY123342;NM_001271142;NM_001271145;NM_001271146;NM_001271147;NM_001271148;NM_006100;XM_005247067;XM_005247068;XM_005247069;XM_005247070;XM_005247071;XM_005247072;XM_006713474;XM_006713475;XM_006713476;XR_427357 AAD39131;AAH23312;BAA77609;BAG37569;BAG50993;CAS91693;CBX32761;CBX46694;EAW79849;EAW79850;EAW79851;EAW79852;EAW79853;NP_001258071;NP_001258074;NP_001258075;NP_001258076;NP_001258077;NP_006091;Q9Y274;XP_005247124;XP_005247125;XP_005247126;XP_005247127;XP_005247128;XP_005247129;XP_006713537;XP_006713538;XP_006713539 Hs.148716 1335615;1668986;1674147;1675124;1735234;1756811;1775499;1850007;2110731;2124703;2163570;5022578;7186675 D1S1423;D2S1767;D3S1603;D3S2900E;RH78574;SGC34494;SHGC-143949;SHGC-57396;SHGC-77137;SHGC-77145;SIAT10_9103;WI-19841 SIAT10;ST3GALVI CMP-NeuAc:beta-galactoside alpha-2,3-sialyltransferase VI;OTTHUMP00000213913;OTTHUMP00000213917;OTTHUMP00000213926;OTTHUMP00000213930;OTTHUMP00000213932;ST3Gal VI;alpha2,3-sialyltransferase;alpha2,3-sialyltransferase ST3Gal VI;sialyltransferase 10 (alpha-2,3-sialyltransferase VI);type 2 lactosamine alpha-2,3-sialyltransferase APPROVED protein-coding ENSG00000064225 HGNC:18080 06195 607156 REVIEWED 1343813 ST6GALNAC2 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 71153785 71174495 - 74561461 74582145 - 76565379 76586063 - 6480464 10742600;12477932;14702039;15231748;15489334;17418236;17480010;19170967;19357720;23548905;24398680;8125298 10610 K7EIW2;K7EKT8;K7EMI2;K7EMM1;Q9UJ37 ABBA01028736;ABBA01028737;ABBA01028738;AC015802;AJ251053;AK127567;AK225943;AMYH02034015;AMYH02034016;BC038114;BC040455;BC044607;BT019972;CH471099;NM_006456;U14550;XM_005256954 AAA52228;AAH40455;AAV38775;CAB61434;EAW89416;EAW89417;EAW89418;NP_006447;Q9UJ37;XP_005257011 Hs.592105 1690424;1736650;1744361;2182251;5014023;5014051;5015404;5015619;5015861;5015961;5016478;5016700;5020946;5024756;5037552;7185938 D10S16;D11S3114;D13S1553;D15S1477;D17S1487E;D17S1998;D8S2278;D8S2279;GDB:434012;GDB:451818;L17705;L17971;RH79802;RH80030;RH98937 FLJ45660;SAITL1;SIAT7;SIAT7B;SIATL1;ST6GalNAII;STHM (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B;(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase;SIAT7-B;ST6GalNAc II;ST6GalNAcII;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2;galNAc alpha-2,6-sialyltransferase II;sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B;sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) B;sialyltransferase 7B;sialyltransferase-like 1 APPROVED protein-coding ENSG00000070731 HGNC:10867 10231 610137 VALIDATED 7241609 ST6GALNAC2P1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 pseudogene 1 2 2 2 84093706 84094557 - 84267036 84267887 - 84039912 84040763 - 100422716 ABBA01075715;AC016908;AMYH02004154;NG_023578 1722101;2124296 D2S1419;G60092 pseudo HGNC:45160 INFERRED 6480902 ST6GALNAC4P1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 pseudogene 1 13 13 20392322 20392751 - 19818182 19818611 - 100874524 ABBA01068565;AL354808;AMYH02027622;NG_032337 pseudo HGNC:39660 INFERRED 1345799 ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008] 1 1 1 p31.1 74780500 75336477 + 76540389 77100311 + 76074704 76634601 + 6480464;6907045;8554872 10207017;12477932;12975309;14702039;15843597;16169874;16344560;17123352;17207965;18519826;19684603;20379614;20421487;24124411 256435 Q8NDV1 ABBA01074409;ABBA01074410;ABBA01074411;ABBA01074412;ABBA01074413;AC092813;AC098655;AC103592;AC104458;AJ507291;AK023731;AK091215;AK130749;AK297363;AL596217;AMYH02001288;AMYH02001289;AMYH02001290;AY358540;BC039520;BC059363;BX648274;CH471059;DA800675;DB473741;KF454976;NM_001160011;NM_152996;XM_006710553;XM_006710554;XR_426597 AAH59363;AAQ88904;ADQ32981;BAC03611;BAG59810;CAD45371;EAX06388;EAX06389;NP_001153483;NP_694541;Q8NDV1;XP_006710616;XP_006710617 Hs.337040;Hs.677241;Hs.679096 1670278;1670468;1700330;1715481;1739271;1749485;1754679;1757235;1761733;1764713;1781392;1781462;1781758;1781764;2106607;2110849;2134648;2142815;2166367;2174920;2175160;2180055;2186812 AL009657;AL009701;D1S116;D1S1573;D1S3019;D2S1931E;RH103785;RH120983;RH64528;SHGC-106925;SHGC-111202;SHGC-112145;SHGC-133035;SHGC-144656;SHGC-145707;SHGC-148305;SHGC-155495;SHGC-155511;SHGC-75024;SHGC-75027;SHGC-75038;SIAT7C__5410;WI-18271 FLJ13669;FLJ27239;PRO7177;SIAT7C;ST6GALNACIII;STY GalNAc alpha-2,6-sialyltransferase III;OTTHUMP00000011189;SIAT7-C;ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltran;ST6GALNAC III;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase III;sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C;sialyltransferase 7C APPROVED protein-coding ENSG00000184005 HGNC:19343 15341 610133 VALIDATED 1349937 ST7-AS1 ST7 antisense RNA 1 INTERACTS WITH all-trans-retinoic acid; valproic acid 7 7 7 q31.2 111399916 111402095 - 116592500 116594388 - 116952446 116954334 - 6480464 12213198 93653 ABBA01057804;AC106873;AF400039;AMYH02016634;CH236947;NR_002330 Hs.597516 1788256;1806572;1818558;1820254;1820522;1842702;1988794;1988796;1988798;1988800;1988802;1988804;1988806;1988808;1988810;1988812;1988814;1988816;1988818;1988820;1988822;1988824 D7S3112;ECD04243;ECD10341;ECD11201;ECD11336;ECD22558;REN65301;REN65302;REN65303;REN65304;REN65305;REN65306;REN65307;REN65308;REN65309;REN65310;REN65311;REN65312;REN65313;REN65314;REN65315;REN65316 ST7AS1;ST7OT1 APPROVED ncrna ENSG00000227199 HGNC:16000 PROVISIONAL 1350452 ST6GALNAC4 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34 101321386 101330529 - 130670165 130679326 - 127907886 127917047 - 6480464;6907045 10207017;10369878;11062056;12459555;12477932;12594047;14702039;15489334;15528990;16712791;17081983;18029348;18598683;21988832;23824909;8681137 27090 A6NJX0;A8K7N4;Q9H4F1 AB035172;ABBA01043853;ABBA01043854;ABBA01043855;AF162789;AJ271734;AK000600;AK292049;AL157935;AMYH02021701;BC036705;CB126299;CH471090;F27902;FB715170;NM_175039;NM_175040;XM_005251922;Y17460;Y17461 AAF32237;AAH36705;BAA87034;BAA91281;BAF84738;CAB44353;CAB44354;CAC07404;CAS91685;EAW87717;EAW87718;EAW87719;EAW87720;EAW87721;NP_778204;NP_778205;Q9H4F1;XP_005251979 Hs.3972;Hs.709827 1653742;1770680;2117193;2127451 RH12804;RH41851;RH45227;WI-18218 IV;SIAT3-C;SIAT3C;SIAT7-D;SIAT7D;ST6GALNACIV;ST6GalNAc;ST6GalNAc IV NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2, 6-sialyltransferase alpha2,6-sialyltransferase;NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransferase IV;OTTHUMP00000022223;OTTHUMP00000197015;ST6 neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminidealpha-2,6-sialyltransferase 4;alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase;sialyltransferase 3C;sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) APPROVED protein-coding ENSG00000136840 HGNC:17846 05902 606378 REVIEWED 1354318 ST6GALNAC6 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008] 9 9 9 q34.11 101298831 101313105 - 130647600 130669010 - 127885321 127906731 - 6480464;6907045;8554872 10702226;12477932;12668675;12975309;14702039;15843597;16713569;17123352 30815 B4DU80;Q969X2;X6RH99 AB035173;ABBA01043851;ABBA01043852;ABBA01043853;AJ507293;AK023900;AK025959;AK057100;AK226174;AK300534;AK310850;AL157935;AMYH02021700;AMYH02021701;AY358672;BC006564;BC007802;BC016299;BC036102;BG699392;CH471090;CR457318;FB715174;NM_001286999;NM_001287000;NM_001287001;NM_001287002;NM_001287003;NM_013443;NR_104629;XM_005251952;XM_006717088;XM_006717089;XM_006717090;XM_006717091;XM_006717092;XR_428528;XR_428529 AAH06564;AAH07802;AAH16299;AAQ89035;ADZ15865;BAA87035;BAB14715;BAG51863;BAG62242;CAD45373;CAG33599;CAS91687;EAW87710;EAW87711;EAW87712;EAW87713;EAW87714;EAW87715;NP_001273928;NP_001273929;NP_001273930;NP_001273931;NP_001273932;NP_038471;Q969X2;XP_005252009;XP_006717151;XP_006717152;XP_006717153;XP_006717154;XP_006717155 Hs.109672 2161548 RH41869 RP11-203J24.3;SIAT7-F;SIAT7F;ST6GALNACVI;hST6GalNAc VI CMP-NeuAC:(beta)-N-acetylgalactosaminide (alpha)2,6-sialyltransferase member VI;OTTHUMP00000022210;OTTHUMP00000022211;OTTHUMP00000022212;OTTHUMP00000022213;SIAT7-F;ST6GalNAc VI;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6;galNAc alpha-2,6-sialyltransferase VI;sialyltransferase 7F;sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F APPROVED protein-coding ENSG00000160408 HGNC:23364 18111 610135 VALIDATED 1352256 ST6GALNAC5 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 ST6GALNAC5 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008] 1 1 1 p31.1 75572629 75769169 + 77333126 77533223 + 76867441 77067538 + 6480464;6907045;8554872 10521438;10601645;12477932;12668675;14702039;15489334;15843597;20379614;24399302;24529757;8619474;9110174 81849 F2Z2C8;Q9BVH7 ABBA01074403;ABBA01074404;ABBA01074405;ABBA01074406;ABBA01074407;ABBA01074408;AC096951;AC099060;AF131837;AJ507292;AK056241;AK095758;AK295019;AK300902;AL035409;AL954680;AMYH02001291;BC001201;BX284687;CH471059;FB715172;KF548000;NM_030965;XM_005271238 AAH01201;AHA82580;BAB71127;BAG53123;BAG58078;BAG62539;CAD45372;CAS91686;EAX06386;NP_112227;Q9BVH7;XP_005271295 Hs.303609 1341465;1658612;1661832;1692440;1693088;1735062;1754497;1762427;1936202;1992316;2137711;2146434;2165500;2167642;2174545;2181078 AFM312vg5;AL009571;AL009727;AL033869;AL034274;D1S1823E;D1S2202;D1S532;REN38938;REN67065;RH64634;RH64660;SHGC-132770;SHGC-146255;SHGC-75035;SHGC-75039 MGC3184;SIAT7E;ST6GalNAcV GD1 alpha synthase;GalNAc alpha-2,6-sialyltransferase V;OTTHUMP00000011258;OTTHUMP00000195588;SIAT7-E;ST6 neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5;ST6GalNAc V;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase V;alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase E;sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E;sialyltransferase 7 (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E;sialyltransferase 7E APPROVED protein-coding HGNC:19342 15342 610134 PROVISIONAL 1346581 ST7-OT4 ST7 overlapping transcript 4 7 7 7 q31.2 111401694 111407575 + 116593953 116599867 + 116953899 116959813 + 12213198;12477932 338069 A8MTU0;A8MVT0;M0QZ25 ABBA01057804;AC106873;AMYH02016634;BC043268;CH236947;LN608154;NR_002329 Hs.662742 1690246;1788256;1806572;1814666;1818558;1820254;1820522;1829280;1829526;1839140;1840996;1842702;1988764;1988766;1988768;1988770;1988772;1988774;1988776;1988778;1988780;1988782;1988784;1988786;1988788;1988790;1988792;1988794;1988796;1988798;1988800;1988802;1988804;1988806;1988808;1988810;1988812;1988814;1988816;1988818;1988820;1988822;1988824;2093868;2093870;2093872;2093874 D7S3112;ECD04243;ECD08363;ECD10341;ECD11201;ECD11336;ECD15769;ECD15894;ECD20749;ECD21691;ECD22558;REN65286;REN65287;REN65288;REN65289;REN65290;REN65291;REN65292;REN65293;REN65294;REN65295;REN65296;REN65297;REN65298;REN65299;REN65300;REN65301;REN65302;REN65303;REN65304;REN65305;REN65306;REN65307;REN65308;REN65309;REN65310;REN65311;REN65312;REN65313;REN65314;REN65315;REN65316;RH92494;stSG598296;stSG598297;stSG598298;stSG598299 NCRNA00042;ST7OT4 APPROVED ncrna HGNC:18835 PROVISIONAL 1349426 ST8 suppression of tumorigenicity 8 (ovarian) ASSOCIATED WITH Ovarian Neoplasms (inferred) 7240710 1394208 6765 HGNC:11352 167000 1603707 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008] 12 12 12 p12.1-p11.2 27500769 27642080 - 22346325 22487648 - 22193391 22334714 - 6480464;6907045 10766765;11849746;12477932;12818424;15175338;15196944;15319364;15489334;16120058;16481330;16862187;17913261;18261989;18348864;18612409;18690648;19125296;19280063;19335207;19428123;19956670;20379614;20708005;20889649;22885356;23725790;24548412;7901202;7937974;8058740;8195250;8631981;8786103;8889548;9287216 6489 F8WCS8;H0YFU1;H0YG41;H0YGV9;Q86X71;Q92185 ABBA01067982;ABBA01067983;AC007544;AC007671;AC087318;AF088002;AK290941;AK297310;AK315340;AMYH02026176;AY569975;BC031081;BC046158;BC117285;BC126162;BM929838;CH471094;D26360;EU041716;FB715190;L32867;L43494;NM_003034;X77922;XM_005253469;XM_005253470 AAA62366;AAC37586;AAH46158;AAI17286;AAI26163;AAS75783;ABU62753;ADR82955;BAA05391;BAF83630;BAG37739;BAG59776;CAA54891;CAS91695;EAW96468;EAW96469;EAW96470;EAW96471;NP_003025;Q92185;XP_005253526;XP_005253527 Hs.408614 1339489;1339861;1723425;1725919;1725921;1725961;1754061;1759771;1766995;1852857;2128607;2134737;2162070;5014740;5015861;7185938 D10S16;D12S1688;D12S799;D17S610;G62291;G62294;G62408;RH118528;RH69610;SHGC-12597;SHGC-132098;SHGC-151275;SHGC-152564;STS-X77922;UniSTS:36840 GD3S;SIAT8;SIAT8-A;SIAT8A;ST8SiaI OTTHUMP00000240085;OTTHUMP00000240087;OTTHUMP00000240089;alpha-2,8-sialyltransferase 8A;alpha-N-acetylneuraminide alpha-2,8-sialyltransferase;disialoganglioside (GD3) synthase;ganglioside GD3 synthase;ganglioside GT3 synthase;ganglioside-specific alpha-2,8-polysialyltransferase;sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A;sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase);sialyltransferase St8Sia I;sialytransferase St8Sia I APPROVED protein-coding ENSG00000111728 HGNC:10869 03078 601123 REVIEWED 1351358 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008] 15 15 15 q26 69348987 69423804 + 92937140 93011958 + 92393910 92468728 + 6480464;8554872 10766765;11744634;12138100;12477932;12975309;15466855;15489334;15710344;16229822;17126533;19336400;20386566;20663923;21464126;21555518;22281821;22693595;22837378;23643386;23671285;7559389;7588599;8027041;8702635;9054414;9852130 8128 B2R9U8;C6G488;G3V2T1;Q92186 ABBA01053091;AC090985;AC116162;AK313924;AMYH02031071;AW163487;AY358091;BC069584;BC096202;BC096203;BC096204;BC096205;BX537981;CH471101;FB715192;FJ515842;L29556;NM_006011;U33551;U82762 AAA36613;AAB51242;AAC24458;AAH69584;AAH96202;AAH96203;AAH96204;AAH96205;AAQ88458;ACS13735;ACS13736;BAG36645;CAS91696;EAX02149;NP_006002;Q92186 Hs.302341 1659535;1715455;1725163;2116688;2117191;2122700;2133553;2174139;2174378 A008W12;FB24D6;G30955;RH118884;RH120892;RH15709;RH47406;STS-L29556;WI-15667 HsT19690;MGC116854;MGC116857;SIAT8B;ST8SIA-II;STX OTTHUMP00000194774;OTTHUMP00000246735;OTTHUMP00000246736;SIAT8-B;ST8SiaII;alpha-2,8-sialyltransferase 8B;alpha-2,8-sialyltransferase 8B 1;sialyltransferase 8 (alpha-2, 8-sialytransferase) B;sialyltransferase 8B;sialyltransferase St8Sia II;sialyltransferase X;sialytransferase St8Sia II APPROVED protein-coding ENSG00000140557 HGNC:10870 03969 602546 REVIEWED 1606293 ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008] 18 18 18 q21.31 51736805 51753237 + 55019721 55036162 + 57352490 57368931 + 6480464;8554872 10766765;12477932;14702039;15489334;16643848;20800603;9073076;9826427 51046 K7EQB3;O43173;Q59GW3 AB208996;ABBA01056129;AC090208;AF003092;AF004668;AK054939;AK123291;AK289517;AK313047;AMYH02034785;AMYH02034786;BC074909;CH471096;NM_015879 AAB87642;AAC15901;AAH74909;BAD92233;BAF82206;BAG35879;EAW63043;NP_056963;O43173 Hs.23172 1669898;1768102;2106609;2158871;2173053 D18S1245;D18S916E;RH12286;RH47620;SIAT8C__5411 SIAT8C;ST8SiaIII SIAT8-C;alpha-2,8-sialyltransferase 8C;alpha-2,8-sialyltransferase III;sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase;sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase);sialyltransferase St8Sia III;sialytransferase St8Sia III APPROVED protein-coding ENSG00000177511 HGNC:14269 15343 609478 VALIDATED 1606986 ST7-OT3 ST7 overlapping transcript 3 7 7 7 q31.3 111631219 111667313 + 116822735 116849991 + 117182681 117209937 + 10889044;10889047;12213198;16110330 93655 ABBA01057802;AC002542;AF400044;AMYH02016636;CH236947;NR_002332 Hs.368131 1711760;1799120;1799484;1800238;1800728;1801060;1801756;1801902;1803750;1804998;1805000;1805042;1808084;1808150;1808858;1809294;1809296;1809380;1810100;1813716;1815458;1817132;1818560;1820256;1820648;1822284;1822432;1823314;1823998;1825972;1826660;1827114;1827288;1832196;1833940;1835840;1840138;1843878;1858626;1986864;1986866;1986868;1986870;1986872;1986874;1986876;1986878;1986880;1986882;1986884;1986886;1986888;1986892;1986894;1986896;1986898;1986900;1986902;1986904;1986906;1986908;1986910;1986912;1986914;1986916;1986918;1986920;1986922;1986924;1986926;1986928;1986930;1986932;1986934;1986936;1986938;1986940;1986942;1986944;1986946;1986948;1986950;1986952;1986954;1986956;1986958;1986960;1986962;1986964;1986966;1986968;1986970;1986972;1986974;1986976;1986978;1986980;1986982;1986984;1986986;1986988;1986990;1986992;1986994;1986996;1986998;1987000;1987002;1987004;1987006;1987008;1987010;1987012;1987014;1987016;1987018;1987020;1987022;1987024;1987026;1987028;1987030;1987032;1987034;1987036;1987038;1987040;1987042;1987044;1987046;1987048;1987050;1987052;1987054;1987056;1987058;1987060;1987062;1987064;1987066;1987068;1987070;1987072;1987074;1987076;1987078;1987080;1987082;1987084;1987086;1987088;1987090;1987092;1987094;1987096;1987098;1987100;1987102;1987104;1987106;1987108;1987110;1987112;1987114;1987116;1987118;1987120;1987122;1987124;1987126;1987128;1987130;1987132;1987134;1987136;1987138;1987140;1987142;1987144;1987146;1987148;1987150;1987152;1987154;1987156;1987158;1987160;1987162;1987164;1987166;1987168;1987170;1987172;1987174;1987176;1987178;2094176;2094178;2094180;2094182;2094184;2094186;2094188;2094190;2094192;2094194;2094196;2094198;2094200;2094202;2094204;2094206;2094208;2094210;2094212;2094214;2094216;2094218;2094220;2094222;2094224;2094226;2094228;2094230;2094232;2094234;2094236;2118135;2149634;2165494;5491663 D7S2097E;ECD00406;ECD00593;ECD00977;ECD01225;ECD01398;ECD01758;ECD01832;ECD02782;ECD03439;ECD03440;ECD03462;ECD05020;ECD05056;ECD05412;ECD05637;ECD05638;ECD05682;ECD06042;ECD07881;ECD08765;ECD09616;ECD10342;ECD11202;ECD11399;ECD12228;ECD12304;ECD12746;ECD13095;ECD14095;ECD14444;ECD14672;ECD14759;ECD17236;ECD18116;ECD19081;ECD21253;ECD23150;ECD24514;G49391;GDB:1317662;MARC_6367-6368:997299589:1;REN64334;REN64335;REN64336;REN64337;REN64338;REN64339;REN64340;REN64341;REN64342;REN64343;REN64344;REN64345;REN64346;REN64348;REN64349;REN64350;REN64351;REN64352;REN64353;REN64354;REN64355;REN64356;REN64357;REN64358;REN64359;REN64360;REN64361;REN64362;REN64363;REN64364;REN64365;REN64366;REN64367;REN64368;REN64369;REN64370;REN64371;REN64372;REN64373;REN64374;REN64375;REN64376;REN64377;REN64378;REN64379;REN64380;REN64381;REN64382;REN64383;REN64384;REN64385;REN64386;REN64387;REN64388;REN64389;REN64390;REN64391;REN64392;REN64393;REN64394;REN64395;REN64396;REN64397;REN64398;REN64399;REN64400;REN64401;REN64402;REN64403;REN64404;REN64405;REN64406;REN64407;REN64408;REN64409;REN64410;REN64411;REN64412;REN64413;REN64414;REN64415;REN64416;REN64417;REN64418;REN64419;REN64420;REN64421;REN64422;REN64423;REN64424;REN64425;REN64426;REN64427;REN64428;REN64429;REN64430;REN64431;REN64432;REN64433;REN64434;REN64435;REN64436;REN64437;REN64438;REN64439;REN64440;REN64441;REN64442;REN64443;REN64444;REN64445;REN64446;REN64447;REN64448;REN64449;REN64450;REN64451;REN64452;REN64453;REN64454;REN64455;REN64456;REN64457;REN64458;REN64459;REN64460;REN64461;REN64462;REN64463;REN64464;REN64465;REN64466;REN64467;REN64468;REN64469;REN64470;REN64471;REN64472;REN64473;REN64474;REN64475;REN64476;REN64477;REN64478;REN64479;REN64480;REN64481;REN64482;REN64483;REN64484;REN64485;REN64486;REN64487;REN64488;REN64489;REN64490;REN64491;RH36056;stSG598465;stSG598466;stSG598467;stSG598468;stSG598469;stSG598470;stSG598471;stSG598472;stSG598473;stSG598474;stSG598475;stSG598476;stSG598477;stSG598478;stSG598479;stSG598480;stSG598481;stSG598482;stSG598483;stSG598484;stSG598485;stSG598486;stSG598487;stSG598488;stSG598489;stSG598490;stSG598491;stSG598492;stSG598493;stSG598494;stSG598495 NCRNA00026;ST7;ST7OT3 APPROVED ncrna HGNC:16045 PROVISIONAL 1603321 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q21 96090286 96186603 - 100142639 100238989 - 100806935 100903285 - 6480464 10660622;10766765;11279095;11744634;12138100;12227654;12477932;15489334;15710344;16027151;16229822;16344560;17176637;17207965;18384787;19336400;19578876;19725832;19913121;20379614;20628086;22184126;23801331;7624364;7854457;9054414;9774483;9852130 7903 E5RFK3;Q92187 AA836260;ABBA01069169;ABBA01069170;AC010411;AC117530;AK292872;AMYH02011857;AMYH02011858;AMYH02011859;BC027866;BC040671;BC053657;BI858673;BM921020;CH471086;CS565550;DA862968;FB715196;L41680;NM_005668;NM_175052;XM_005272078 AAC41775;AAH27866;AAH53657;ADQ33222;BAF85561;CAN37586;CAS91698;EAW49104;EAW49105;NP_005659;NP_778222;Q92187;XP_005272135 Hs.308628 1675975;1690051;1694496;1699544;1751183;1858072;2108475;2139976;5015404;5015879;5016478;5017714;5020740 G42987;GDB:314949;GDB:434012;L17705;L17809;RH103370;RH78921;RH80262;RH92839;SHGC-105043;SIAT8D_8769;ST8SIA4;STS-L41680 MGC34450;MGC61459;PST;PST1;SIAT8D;ST8SIA-IV CMP-N-acetylneuraminate-poly-alpha-2,8-sialyl transferase;CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase;OTTHUMP00000158915;OTTHUMP00000227000;SIAT8-D;ST8SiaIV;alpha-2,8-sialyltransferase 8D;polysialyltransferase-1;sialyltransferase 8 (alpha-2, 8-polysialytransferase) D;sialyltransferase 8D;sialyltransferase St8Sia IV;sialytransferase St8Sia IV APPROVED protein-coding ENSG00000113532 HGNC:10871 03970 602547 REVIEWED 1349184 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008] 18 18 18 q21.1 41066687 41144720 - 44259081 44337039 - 46679118 46757076 - 6480464;6907045;8554872 12477932;14702039;20930939;9129712;9199191 29906 B3KSU2;F5H8D1;K7EN49;K7ER54;O15466 ABBA01022317;AC064800;AC090311;AK056270;AK094273;AK130126;AK293608;AK298881;AK310764;AMYH02034662;BC108910;BC108911;BX105571;CH471088;CR457037;FB715198;KF456400;NM_013305;U55966;U91641;XM_005258250;XM_006722443;XM_006722444 AAC51727;AAI08911;AAI08912;BAG51661;BAG52854;BAH11545;BAH12893;CAG33318;CAS91699;EAX01482;EAX01483;NP_037437;O15466;XP_005258307;XP_006722506;XP_006722507 Hs.465025 1758711;2107575;5123747 SHGC-149230;SIAT8E__6834;WI-13748 MGC119670;MGC119671;SIAT8E;ST8SiaV OTTHUMP00000163479;SIAT8-E;alpha-2,8-sialyltransferase 8E;sialyltransferase 8E (alpha-2, 8-polysialytransferase);sialyltransferase St8Sia V;sialytransferase St8Sia V APPROVED protein-coding ENSG00000101638 HGNC:17827 06199 607162 REVIEWED 1605541 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 Sialic acid is a key determinate of oligosaccharide structures involved in cell-cell communication, cell-substrate interaction, adhesion, and protein targeting. ST8SIA6 belongs to a family of sialyltransferases (EC 2.4.99.8) that synthesize sialylglycoconjugates (Takashima et al., 2002 [PubMed 11980897]).[supplied by OMIM, Mar 2008] 10 10 10 p12.33 17295946 17429480 - 17361282 17496408 - 17319283 17454409 - 6480464 11980897;12477932;15164054;15843597;16857734;19176441;21906983 338596 H0Y405;P61647 AB062101;ABBA01034558;AJ621583;AL158164;AL160289;AMYH02022246;AMYH02022247;AMYH02022248;AMYH02022249;AMYH02022250;AMYH02022251;BC137102;BC137103;BC144472;BX951710;EF445032;FB715200;JA738635;NM_001004470;XR_242697 AAI37103;AAI37104;ACA06074;ACA06075;BAE94653;CAF21722;CAS91700;CCF76970;NP_001004470;P61647 Hs.677766 1674067;1683655;1690276;1712723;1723265;1730024;2106611 D4S136;RH121058;RH122321;RH91938;RH94156;SIAT8F__5413;STS-H99861 SIA8F;SIAT8F;ST8SIA-VI OTTHUMP00000019235;SIAT8-F;ST8SiaVI;alpha-2,8-sialyltransferase 8F;alpha-2,8-sialyltransferase 8F variant 2;alpha-2,8-sialyltransferase 8F variant 3;sialyltransferase 8F (alpha-2, 8-sialyltransferase);sialyltransferase St8Sia VI;sialytransferase St8Sia VI APPROVED protein-coding HGNC:23317 15344 610139 VALIDATED 1353207 ST7-AS2 ST7 antisense RNA 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 7 7 7 q31.2 111560831 111594099 - 116752346 116785614 - 117072072 117145592 - 8554872 12213198;16344560 93654 ABBA01057803;AC002542;AF400040;AF400041;AF400042;AF400043;AF400045;AMYH02016634;AMYH02016635;AMYH02016636;CB054673;CH236947;DB054726;HG500530;HG500531;HG500532;HG500533;HG500534;KF458573;NR_002331;NR_109980;NR_109981 Hs.628891;Hs.737649;Hs.745258 1700800;1711762;1799678;1800784;1803038;1803108;1803442;1803588;1804544;1804598;1806172;1807596;1808492;1809886;1812224;1812500;1813152;1813288;1813522;1814540;1818350;1821376;1823174;1823918;1824622;1825028;1825970;1827782;1827784;1829112;1829362;1831726;1834036;1838726;1840636;1842312;1845368;1846242;1846526;1987430;1987432;1987434;1987436;1987438;1987440;1987442;1987444;1987446;1987448;1987450;1987452;1987454;1987456;1987458;1987460;1987462;1987464;1987466;1987468;1987470;1987472;1987474;1987476;1987478;1987480;1987482;1987484;1987486;1987488;1987490;1987492;1987494;1987496;1987498;1987500;1987502;1987504;1987506;1987508;1987510;1987512;1987514;1987516;1987518;1987520;1987522;1987524;1987526;1987528;1987530;1987532;1987534;1987536;1987538;1987540;1987542;1987544;1987546;1987548;1987550;1987552;1987554;1987556;1987558;1987560;1987562;1987564;1987566;1987568;1987570;1987572;1987574;1987576;1987578;1987580;1987582;1987584;1987586;1987588;1987590;1987592;1987594;1987596;1987598;1987600;1987602;1987604;1987606;1987608;1987610;1987612;1987614;1987616;1987618;1987620;1987622;1987624;1987626;1987628;1987630;1987632;1987634;1987636;1987638;1987640;1987642;1987644;1987646;1987648;1987650;1987652;1987654;1987656;1987658;1987660;1987662;1987664;1987666;1987668;1987670;1987672;1987674;1987676;1987678;1987680;1987682;1987684;1987686;1987688;1987690;1987692;1987694;1987696;1987698;1987700;1987702;1987704;1987706;1987990;1987992;2094020;2094074;2094076;2094078;2094080;2094082;2094084;2094086;2094088;2094090;2094092;2094094;2094096;2094098;2094100;2094102;2094104;2094106;2094108;2094110;2094112;2094114;2094116;2094118;2094120;2094122;2094124;2094126;2094128 ECD00693;ECD01254;ECD02410;ECD02445;ECD02618;ECD02696;ECD03201;ECD03231;ECD04040;ECD04770;ECD05228;ECD05935;ECD07119;ECD07257;ECD07595;ECD07664;ECD07782;ECD08300;ECD10232;ECD11772;ECD12675;ECD13053;ECD13409;ECD13613;ECD14094;ECD15013;ECD15014;ECD15683;ECD15812;ECD17000;ECD18166;ECD20541;ECD21508;ECD22359;ECD23901;ECD24341;ECD24484;G49392;REN64617;REN64618;REN64619;REN64620;REN64621;REN64622;REN64623;REN64624;REN64625;REN64626;REN64627;REN64628;REN64629;REN64630;REN64631;REN64632;REN64633;REN64634;REN64635;REN64636;REN64637;REN64638;REN64639;REN64640;REN64641;REN64642;REN64643;REN64644;REN64645;REN64646;REN64647;REN64648;REN64649;REN64650;REN64651;REN64652;REN64653;REN64654;REN64655;REN64656;REN64657;REN64658;REN64659;REN64660;REN64661;REN64662;REN64663;REN64664;REN64665;REN64666;REN64667;REN64668;REN64669;REN64670;REN64671;REN64672;REN64673;REN64674;REN64675;REN64676;REN64677;REN64678;REN64679;REN64680;REN64681;REN64682;REN64683;REN64684;REN64685;REN64686;REN64687;REN64688;REN64689;REN64690;REN64691;REN64692;REN64693;REN64694;REN64695;REN64696;REN64697;REN64698;REN64699;REN64700;REN64701;REN64702;REN64703;REN64704;REN64705;REN64706;REN64707;REN64708;REN64709;REN64710;REN64711;REN64712;REN64713;REN64714;REN64715;REN64716;REN64717;REN64718;REN64719;REN64720;REN64721;REN64722;REN64723;REN64724;REN64725;REN64726;REN64727;REN64728;REN64729;REN64730;REN64731;REN64732;REN64733;REN64734;REN64735;REN64736;REN64737;REN64738;REN64739;REN64740;REN64741;REN64742;REN64743;REN64744;REN64745;REN64746;REN64747;REN64748;REN64749;REN64750;REN64751;REN64752;REN64753;REN64754;REN64755;REN64897;REN64898;RH104025;stSG598380;stSG598409;stSG598412;stSG598413;stSG598414;stSG598415;stSG598416;stSG598417;stSG598418;stSG598419;stSG598420;stSG598421;stSG598422;stSG598423;stSG598424;stSG598425;stSG598426;stSG598427;stSG598428;stSG598429;stSG598430;stSG598431;stSG598432;stSG598433;stSG598434;stSG598435;stSG598436;stSG598437;stSG598438 ST7AS2;ST7OT2 APPROVED ncrna ENSG00000226367 HGNC:16044 VALIDATED 1342887 ST7L suppression of tumorigenicity 7 like This gene was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized. [provided by RefSeq, Feb 2011] 1 1 1 p13.2 111296667 111392566 - 113066140 113162040 - 112523518 112619418 - 1580863;6480464 12012006;12063568;12477932;14702039;21572416;21890473;21963094;23142218;8125298 54879 B7Z7D4;B7Z8V6;H0Y7M0;Q5TEH7;Q8TDW4 AB081317;AB081318;AB081319;AB081320;ABBA01068409;ABBA01068410;ABBA01068411;ABBA01068412;ABBA01068413;AK000291;AK021719;AK095837;AK097837;AK225307;AK291042;AK295507;AK295955;AK301869;AK304004;AK308727;AL109932;AL929470;AMYH02001738;AMYH02001739;AMYH02001740;AMYH02001741;BC027898;BC037830;BC047392;BC065501;BX537988;BX538338;BX640667;CD358134;CH471122;KF455013;NM_017744;NM_138727;NM_138728;NM_138729;XM_005270963;XM_005270964;XM_005270966;XM_005270970;XM_006710708;XM_006710709;XR_246280 AAH37830;AAH47392;AAH65501;ACE86576;ACE87259;BAA91060;BAB88871;BAB88872;BAB88873;BAB88874;BAC05180;BAF83731;BAG53142;BAH12090;BAH12228;BAH13570;BAH14092;CAD97948;CAD98103;CAE45803;EAW56520;EAW56521;EAW56522;EAW56523;EAW56524;NP_060214;NP_620055;NP_620056;NP_620057;Q8TDW4;XP_005271020;XP_005271021;XP_005271023;XP_005271027;XP_006710771;XP_006710772 Hs.201921 1335693;1662710;1682467;1767705;1798226;7186593 D1S487;RH92806;SHGC-75325;SHGC-75333;ST7L_2128 FAM4B;FLJ11657;FLJ20284;ST7R;STLR OTTHUMP00000013490;OTTHUMP00000013491;OTTHUMP00000013492;OTTHUMP00000013493;OTTHUMP00000013494;OTTHUMP00000013495;OTTHUMP00000013496;OTTHUMP00000013497;ST7-related protein;suppressor of tumorigenicity 7 protein-like;tumor suppressor ST7 like APPROVED protein-coding ENSG00000007341 HGNC:18441 18112 REVIEWED 7204900 ST8SIA6-AS1 ST8SIA6 antisense RNA 1 10 10 10 p12.33 17362154 17383506 + 17428935 17450285 + 17386936 17408286 + 12477932 100128098 ABBA01034558;AK127982;AL158164;AMYH02022249;AW449205;BC029655;BC054478;HG502705;NR_034129 BAC87216 Hs.530588 1690276;5037552 D8S2279;RH94156 RP11-414K1.3 ncrna ENSG00000204832 HGNC:44880 VALIDATED 1313960 STAC SH3 and cysteine rich domain ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN cellular response to heat (inferred); intracellular signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (S)-nicotine; 2-methylcholine; cyclosporin A 3 3 3 p22.3 36365008 36532250 + 36421842 36589499 + 36380350 36548007 + 1580863;6480464;8554872 10393425;12477932;14702039;16260042;18654987;19953087;21832049;22704111;23936387;23940030;8954993 6769 B4DZ13;C9J3Z9;E9PEA7;F8WB25;Q99469 ABBA01024871;ABBA01024872;ABBA01024873;AC092051;AC098648;AK056893;AK299160;AK302697;AK310425;AK313493;AMYH02006546;AMYH02006547;AMYH02006548;AW137199;BC020221;CH471055;D86640;DC351652;NM_001292049;NM_003149;XM_006713308;XM_006713309 AAH20221;ABM83106;ABM86300;ABM86301;BAA13152;BAG36275;BAG61208;BAG63925;EAW64474;NP_001278978;NP_003140;Q99469;XP_006713371;XP_006713372 Hs.56045 1299934;1659269;1666433;1689614;1718879;1724125;1760385;2135481;7187818 D3S1561;D3S2369;RH119063;RH123145;RH79772;SHGC-142166;SHGC-76814;WI-10459 FLJ32331;STAC1 OTTHUMP00000161362;OTTHUMP00000208659;OTTHUMP00000208661;SH3 and cysteine-rich domain-containing protein;SRC homology 3 and cysteine-rich domain-containing protein;src homology three (SH3) and cysteine rich domain protein-coding ENSG00000144681 HGNC:11353 11890 602317 VALIDATED 1349105 STAB2 stabilin 2 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008] 12 12 12 q23.3 103644967 103824194 + 103981069 104160502 + 103587289 103766729 + 1580863;6480464;8554872 11829752;12077138;12473645;12626425;12751488;14701874;14702039;15208308;15572036;17145755;17962816;18029348;18230608;18387958;18434317;18499864;18519035;18539600;18573870;19359419;20379614;20466649;21029358;21810271;21878436;22052472;22566688;23382691;23416077;23530033;23870052;24247245 55576 H0YHA5;H0YIF3;Q8WWQ8 AB052958;ABBA01053213;ABBA01053214;ABBA01053215;ABBA01053216;AC025265;AC084364;AF160476;AJ295695;AK024503;AK074051;AK160380;AL133021;AMYH02027084;AMYH02027085;AY227444;AY311388;CH471054;NM_017564;XM_006719476;XR_429107 AAF82398;AAI72224;AAO39681;AAP74958;BAB15793;BAB84877;BAC15608;BAD18723;CAB61358;CAC82105;EAW97711;EAW97712;EAW97713;EAW97714;NP_060034;Q8WWQ8;XP_006719539 Hs.408249 1335370;1643746;1649958;1668429;1746879;1746881;1760221;2125969;2138688;2140721;2165941;2177229;7187878 A007D24;D12S1540;D12S360;D12S865;G64835;G64836;RH17577;RH44575;SHGC-132509;SHGC-33885;WI-17162;WI-17715 DKFZp434E0321;FEEL-2;FEEL2;FELE-2;FELL;FELL-2;FELL2;FEX2;HARE;STAB-2 CD44-like precursor FELL;FAS1 EGF-like and X-link domain containing adhesion molecule-2;OTTHUMP00000242730;fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-2;hepatic hyaluronan clearance receptor;hyaluronan receptor for endocytosis;hyaluronic acid receptor for endocytosis;stabilin-2 APPROVED protein-coding ENSG00000136011 HGNC:18629 10542 608561 REVIEWED 1321166 STAB1 stabilin 1 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] 3 3 3 p21.1 52508595 52537970 + 52529354 52558512 + 52495338 52524496 + 6480464;8554872 10737800;11829752;12077138;12168954;12473645;12477932;12616502;14702039;15297319;15345716;15345724;15572036;16357325;16670288;17006978;18029348;18292525;18854154;19367581;19457577;19726632;19752197;20599701;20935629;20953554;21308731;21368224;21480214;21483103;21926972;21988832;23670221;23974872;24097068;9039502 23166 H7C4W7;Q9NY15 AB052956;AB052957;ABBA01024506;ABBA01024507;AC006208;AC112215;AJ275213;AK091600;AK093774;AK097061;AK310105;AMYH02006803;AMYH02006804;BC150250;BE242606;BI001474;CH471055;D87433;DQ786774;NM_015136;XM_005264973;XM_005264974;XM_005264975;XM_006713065;XM_006713066;XR_427261 AAI50251;ABG91068;BAA13377;BAC15606;BAC15607;BAG52762;CAB61827;EAW65232;EAW65233;EAW65234;NP_055951;Q9NY15;XP_005265030;XP_005265031;XP_005265032;XP_006713128;XP_006713129 Hs.301989 2115434 SHGC-76998 CLEVER-1;FEEL-1;FELE-1;FEX1;KIAA0246;STAB-1 MS-1 antigen;OTTHUMP00000213113;common lymphatic endothelial and vascular endothelial receptor-1;fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1;fasciclin, EGF-like, laminin-type EGF-like and link domain-containing scavenger receptor 1;stabilin-1 APPROVED protein-coding ENSG00000010327 HGNC:18628 09778 608560 REVIEWED 1313639 STAC2 SH3 and cysteine rich domain 2 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN intracellular signal transduction (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; cadmium atom; copper(2+) sulfate 17 17 17 q12 34027691 34042945 - 37366789 37382040 - 39210536 39225787 - 6480464;8554872 12477932;14702039;15489334;16344560;16713569;18187620 342667 D0IN09;J3QKZ0;Q6ZMT1 ABBA01031880;AC004408;AC015910;AJ608762;AK131500;AM903073;AMYH02033373;BC109231;CH471152;DA292898;NM_198993;XM_005257301 AAI09232;BAD18644;CAE75539;CAP17172;EAW60569;EAW60570;NP_945344;Q6ZMT1;XP_005257358 Hs.145068 5015861;7185938 D10S16 24b2;24b2/STAC2;MGC129694 OTTHUMP00000164278;SH3 and cysteine-rich domain-containing protein 2;SRC homology 3 and cysteine-rich domain-containing protein 2 protein-coding ENSG00000141750 HGNC:23990 18113 VALIDATED 1319045 STAC3 SH3 and cysteine rich domain 3 The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013] 12 12 12 q13.3 57291469 57299250 - 57637241 57644971 - 57243453 57251193 - 737633;1580863;6480464;8699517;7240710;8554872 12477932 14702039;15489334;16189514;16344560;23455924;23736855;8889548 246329 G3V2L9;G3V5D4;Q96MF2 ABBA01026707;AC137834;AK057013;AK300688;AK311513;AMYH02026578;AMYH02026579;BC008069;BU738507;CH471054;DA896836;NG_033835;NM_001286256;NM_001286257;NM_145064;NR_104422 AAH08069;BAB71343;BAG62371;EAW97004;EAW97005;EAW97006;EAW97007;NP_001273185;NP_001273186;NP_659501;Q96MF2 Hs.417595 2154072;2219724 RH65724;STAC3__5330 MGC2793;NAM OTTHUMP00000245704;OTTHUMP00000245705;OTTHUMP00000245707;SH3 and cysteine-rich domain-containing protein 3 protein-coding ENSG00000185482 HGNC:28423 11606 255995;615521 REVIEWED 1321827 STAG1 stromal antigen 1 This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008] 3 3 3 q22.3 134481201 134897660 - 136055077 136471245 - 136336234 136752403 - 1580863;6480464;6907045;8554872 10931856;11076961;11590136;12034751;12477932;15231748;15361841;15489334;15737063;15840729;15855230;16344560;16682347;17112726;17113138;17349791;17962804;18029348;18550811;19471022;19822671;19936222;20308539;20360068;21043528;21139048;21890473;21963094;22145905;23000965;23752268;23874961;24250222;24324008;24335498;24390342;24457600;9305759 10274 C9JJQ0;F8WCB3;F8WF82;H7C595;Q68DW7;Q8WVM7 AB210023;ABBA01059111;ABBA01059112;ABBA01059113;ABBA01059114;ABBA01059115;ABBA01059116;ABBA01059117;ABBA01059118;ABBA01059119;ABBA01059120;ABBA01059121;ABBA01059122;ABBA01059123;ABBA01059124;ABBA01059125;ABBA01059126;AC069514;AC069524;AC107425;AC117382;AC128712;AK304381;AK309934;AMYH02007742;AMYH02007743;AMYH02007744;AMYH02007745;AMYH02007746;AMYH02007747;AMYH02007748;AMYH02007749;AU132652;BC017735;BC040708;BC064699;CH471052;CR749247;NM_005862;XM_006713471;Z75330 AAH17735;AAH64699;BAE06105;BAG65219;CAA99731;CAH18103;EAW79114;EAW79115;NP_005853;Q8WVM7;XP_006713534 Hs.412586 1335020;1335230;1336290;1338343;1653994;1655493;1663529;1684497;1699244;1713577;1758829;2116919;2127433;2142095;2146015;2153056;5017745;5093096 A009F46;D1S2717;D3S1549;D3S2453;D3S3528;G08243;G10550;G32517;RH103203;RH120283;RH45689;RH69867;RH94340;SHGC-150766;SHGC-23862;SHGC-54603;SHGC-64944;STAG1 DKFZp781D1416;SA1;SCC3A OTTHUMP00000216529;OTTHUMP00000216539;SCC3 homolog 1;cohesin subunit SA-1;nuclear protein stromal antigen 1 APPROVED protein-coding ENSG00000118007 HGNC:11354 05076 604358 REVIEWED 1604012 STAG3L1 stromal antigen 3-like 1 (pseudogene) FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate 7 7 q11.23 74988447 74997085 + 75359200 75367809 + 6480464 10698974;12477932;16344560;9847074 54441 P0CL83 AA724158;AC006014;AC211486;AK289466;AK291820;BC119762;BG829469;DC419304;NR_040583 AAI19763;AAI46457;AAI53080;BAF82155;BAF84509;P0CL83 Hs.632310;Hs.661254;Hs.694664 5015881;5020757;5021324;5037552;5094693;5106203;5109025;7188077;7188079 Bdyc3h07;D7S1490;D7S489;D7S489_B;D7S489_C;D8S2279;GDB:335751 DKFZp434A0131;FLJ78546;MGC131759;MGC40269;STAG3L1P;STAG3L2;STAG3L3 OTTHUMP00000209277;OTTHUMP00000209427;STAG3-like protein;STAG3-like protein 1;stromal antigen 3-like protein 1;stromal antigen 3-like protein 2 APPROVED pseudo HGNC:33852 13150 VALIDATED 2291785 STAG3L2 stromal antigen 3-like 2 (pseudogene) FOUND IN nucleus (inferred) 7 7 q11.23 74298092 74306731 - 74881990 74890612 - 10698974;12477932;12853948;14702039;15489334 442582 P0CL84;Q7L1H2 AC004166;AC211424;AK303473;AK307228;AK309007;BC002581;BC095487;BC119761;BG537494;BI753182;BM311130;BQ028473;CA424909;CB956482;NR_040584 AAH02581;AAI19762;BAH13970;P0CL84 Hs.632310;Hs.666638 5020757;5021485;5037552;5106203;5109025;5125801;7188077;7188079 Bdyc3h07;D7S1490;D7S489;D8S2279;RH16531;RH46474 MGC131759;STAG3L1;STAG3L2P;STAG3L3 OTTHUMP00000209501;OTTHUMP00000209503;OTTHUMP00000209504;STAG3-like protein;STAG3-like protein 2;stromal antigen 3-like protein 2 APPROVED pseudo HGNC:33886 VALIDATED 7247301 STAG3L5P stromal antigen 3-like 5 pseudogene 7 7 q22.1 99933702 99938951 + 100336079 100341328 + 16341674;16344560;16926269 101735302 ABBA01013219;AC005071;AMYH02016377;BM826568;DA306290;NR_103720 Hs.521075 pseudo ENSG00000242294 HGNC:48896 VALIDATED 1605476 STAG3L3 stromal antigen 3-like 3 (pseudogene) FOUND IN nucleus (inferred); INTERACTS WITH atrazine; valproic acid; 17alpha-ethynylestradiol (ortholog) 7 7 q11.23 72467818 72476466 - 72997295 73005943 - 6480464 10698974;12477932;16344560;17207965 442578 B4E0Z5;P0CL85 ABBA01195398;AC005488;AC211476;AK303592;AK316130;AL137492;AY313779;BC010433;BC030509;BC066937;BC108680;BG472630;BI829811;BM007884;DA505391;DA555040;DC395490;DC405605;DC410426;NR_040582 AAH30509;AAH66937;AAI08681;AAP22359;AAP81010;ADQ33010;BAG64607;BAH14501;P0CL85 Hs.632310;Hs.661254 5015881;5020757;5021485;5037552;5106203;5109025;5125801;5126104;7188077;7188079 Bdyc3h07;D7S1490;D7S489;D8S2279;GDB:335751;GDB:4585025;RH16531;RH46474 STAG3L1;STAG3L2;STAG3L3P OTTHUMP00000211421;OTTHUMP00000211422;OTTHUMP00000211424;STAG3-like protein;STAG3-like protein 3;stromal antigen 3-like protein 3 APPROVED pseudo HGNC:33845 18656 VALIDATED 737601 STAG3 stromal antigen 3 The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014] 7 7 7 q22.1 94510888 94547361 + 99775186 99812010 + 100177724 100214387 + 1580863;6480464;8699517;7240710;8554872 10698974;11483963;12034751;12477932;16344560;18299561;18788457;19270026;20635389;24597867 10734 C9J3T3;C9JTG4;C9JYW5;D6W5U7;H0Y4S6;H7C0H6;Q9UJ98 AA747738;ABBA01013228;AC005071;AC073842;AJ007798;AK292394;AK302587;AK302693;AL833816;AMYH02016375;BC028684;BC047490;BC140932;BC146806;BG772730;CH236956;CH471091;DB097403;NG_034114;NM_001282716;NM_001282717;NM_001282718;NM_012447;XM_005250116 AAI40933;AAI46807;BAF85083;BAG63840;BAG63922;CAB59367;CAD38679;EAW76568;EAW76570;EAW76571;EAW76572;NP_001269645;NP_001269646;NP_001269647;NP_036579;Q9UJ98;XP_005250173 Hs.592283 1646317;1651249;1662119;1675437;1677504;1786414;1788244;1849341;2119628;2141129;2141131;2147514;2147781;2158274;2172708;2180420;2180422;5091042 A002N20;A004W23;D7S1561;D7S2074E;D7S3104;GDB:1234294;GDB:4585356;GDB:4585375;RH12482;RH47305;RH47646;RH80607;RH92424;SHGC-172008;SHGC-35872;SHGC-5628;STS-AA019655;WI-13802 POF8 OTTHUMP00000207376;OTTHUMP00000207395;OTTHUMP00000207396;SCC3 homolog 3;cohesin subunit SA-3;stromalin 3;stromalin-3 protein-coding ENSG00000066923 HGNC:11356 10253 608489;615723 REVIEWED 1603611 STAG3L4 stromal antigen 3-like 4 (pseudogene) INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; levonorgestrel 7 7 7 p11.2-q11.2 60149255 60168156 + 66767625 66786513 + 67302638 67321526 + 6480464 10698974;12477932;14702039;17207965;23599027 64940 Q8TBR4 AA012895;ABBA01048937;AC006480;AK023257;AK307290;AK308931;AMYH02015920;AMYH02015921;BC026058;CH471140;CR457306;NR_040585;NR_040586 AAH26058;AAS07569;ADQ32231;BAB14491;CAG33587;EAX07881;Q8TBR4 Hs.632013 1684566;2114949 RH67806;SHGC-30972 FLJ13195;STAG3L4P OTTHUMP00000211023;OTTHUMP00000211026;STAG3-like protein 4;stromal antigen 3-like protein 4 APPROVED pseudo ENSG00000106610 HGNC:33887 07817 VALIDATED 1343912 ST7 suppression of tumorigenicity 7 The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008] 7 7 7 q31.2 111400797 111678246 + 116593381 116870077 + 116953327 117230023 + 1580863;6480464;8554872 10889044;10889047;11279520;12107844;12213198;12231539;12477932;12545169;12690205;12809483;12853948;14534688;14669308;14702039;16683024;19058789;19736351;19913121;20238225;20379614;20628086;21139048;21890473;21963094;21988832;22872573;24453002;24722188;7624150;7987830;7991599;8105370;8938430 7982 B7Z4L1;B7Z4U3;C9J2Z1;C9JCI7;C9JRQ0;C9JRW1;C9JU30;C9JWK8;C9JX79;C9JZV9;E7EMS3;E7ENZ9;E7EPD9;E7EPW5;E9PCV1;E9PF01;G3XAH9;H7BXS2;Q9NRC1;X5DRA0 ABBA01057801;ABBA01057802;ABBA01057803;ABBA01057804;AC002542;AC003987;AC106873;AF234882;AF234883;AF234886;AF415174;AJ277291;AK093212;AK292372;AK297510;AK297861;AK298540;AMYH02016634;AMYH02016635;AMYH02016636;AY009152;AY009153;BC030954;BC075855;CH236947;CH471070;CR936656;KF458573;KJ534947;NM_018412;NM_021908 AAF85945;AAF85946;AAF85949;AAG37720;AAG37721;AAH30954;AAH75855;AAL85662;AAS02042;AAS07414;AAS07415;AAS07529;ABM83573;ABM86812;AHW56587;BAC04097;BAF85061;BAH12597;BAH12679;BAH12809;CAB86869;CAI56794;EAL24356;EAL24357;EAW83516;EAW83517;EAW83518;EAW83519;EAW83520;EAW83521;NP_060882;NP_068708;Q9NRC1 Hs.368131 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DKFZp762O2113;ETS7q;FAM4A;FAM4A1;HELG;RAY1;SEN4;TSG7 OTTHUMP00000025506;OTTHUMP00000068957;OTTHUMP00000068958;OTTHUMP00000068959;OTTHUMP00000068960;OTTHUMP00000068961;OTTHUMP00000068963;OTTHUMP00000068964;OTTHUMP00000198300;OTTHUMP00000198301;OTTHUMP00000206921;OTTHUMP00000212190;family with sequence similarity 4, subfamily A, member 1;suppression of tumorigenicity 7 (breast);suppressor of tumorigenicity 7 protein APPROVED protein-coding ENSG00000004866 HGNC:11351 09015 600833 REVIEWED 7247296 STAG3L5P-PVRIG2P-PILRB STAG3L5P-PVRIG2P-PILRB readthrough This locus represents naturally occurring readthrough transcription among the neighboring LOC101735302 (stromal antigen 3 pseudogene), LOC101752334 (poliovirus receptor related immunoglobulin domain containing pseudogene) and PILRB (paired immunoglobin-like type 2 receptor beta) genes on chromosome 7. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013] 7 7 q22.1 99933688 99965454 + 100336065 100367831 + 6480464 11181995;12477932;14702039;16344560;16926269;23251661 101752399 AA908333;ABBA01013218;ABBA01013219;AC005071;AF217981;AJ400846;AK056412;AK074039;AK298676;AK310352;AL834317;AL834336;AMYH02016377;AMYH02016378;BC040122;BC050547;CH471091;DB275512;DQ851871;DQ851872;DQ851874;DQ851875;DQ851876;DQ851877;DQ851878;DQ851879;DQ851880;DQ851881;DQ851883;DQ851885;NR_036569;NR_036570 AAG17224;AAH50547;BAB84865;BAG51701;BAG60840;CAC19194;CAH10711;CAH10714;EAW76547;EAW76548;EAW76549;EAW76550;EAW76552;EAW76553;EAW76554;EAW76555;EAW76556;EAW76557 Hs.521075;Hs.632314 LOC101735302-LOC101752334-PILRB ncrna HGNC:48898 VALIDATED 1603015 STAMBPL1 STAM binding protein-like 1 ENCODES a protein that exhibits metal ion binding (inferred); metallopeptidase activity (inferred); peptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN membrane; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 10 10 10 q23.31 84386859 84430089 + 90639597 90735343 + 88879368 88923502 + 6480464 10718198;12477932;12810066;12943674;14702039;14728725;14755250;15164054;15489334;16189514;16385451;16716190;17426287;18758443;19615732;19946888;21139048;21163940;22258247;24654937 57559 B3KR00;Q96FJ0 AB010120;AB037794;ABBA01021952;ABBA01021953;AK056086;AK090678;AK092946;AL157394;AMYH02023506;AW006657;BC010846;BX649096;CD244526;CH471066;NM_020799;XM_006717928;XM_006717929;XM_006717930 AAH10846;BAA92611;BAC77766;BAG51619;BAG52212;BAG52631;EAW50156;EAW50157;EAW50158;NP_065850;Q96FJ0;XP_006717991;XP_006717992;XP_006717993 Hs.16229;Hs.701879 1339007;1669473;1722719;2140019;5015619;5015961;5037552;5115329 D10S1735;D11S3114;D15S1477;D8S2279;G60446;L18494;RH66053;WI-10275 ALMalpha;AMSH-FP;AMSH-LP;FLJ31524;KIAA1373;bA399O19.2 AMSH-like protease;OTTHUMP00000020053;OTTHUMP00000020054;OTTHUMP00000020055;STAM-binding protein-like 1;associated molecule with the SH3 domain of STAM (AMSH) - Family Protein;associated molecule with the SH3 domain of STAM (AMSH) like protein protein-coding ENSG00000138134 HGNC:24105 16486 612352 VALIDATED 1603225 STAP1 signal transducing adaptor family member 1 The protein encoded by this gene functions as a docking protein acting downstream of Tec tyrosine kinase in B cell antigen receptor signaling. The protein is directly phosphorylated by Tec in vitro where it participates in a postive feedback loop, increasing Tec activity. [provided by RefSeq, Jul 2008] 4 4 4 q13.2 65886843 65935009 + 68424415 68473059 + 67558728 67607341 + 6480464;8554872 10358768;10518561;10679268;11329013;11716489;12477932;12540842;14615539;15090612;15489334;16806233;16964243;17052657;17207965;17936702;18029348;18468998;20379614 26228 Q4W5K1;Q9ULZ2 AB023483;ABBA01022900;AC096720;AC109356;AK313676;AMYH02009377;BC014958;BG190230;CH471057;NM_012108;XM_005265675;XM_006714175;XM_006714176;XR_427541 AAH14958;AAY40998;ADQ31721;BAA85311;BAG36427;EAX05547;EAX05548;NP_036240;Q9ULZ2;XP_005265732;XP_006714238;XP_006714239 Hs.435579 1716705;2218314 BRDG1_4463;RH121611 BRDG1;STAP-1 BCR downstream signaling 1;BCR downstream-signaling protein 1;OTTHUMP00000159639;OTTHUMP00000159640;docking protein BRDG1;signal-transducing adaptor protein 1;signal-transducing adaptor protein-1;stem cell adaptor protein 1 APPROVED protein-coding ENSG00000035720 HGNC:24133 16053 604298 REVIEWED 1606575 STAMBP STAM binding protein Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p13.1 73887352 73921265 + 74056043 74100783 + 73828916 73867168 + 6480464;6907045;7240710;8554872 10224278;10383417;10899310;10982817;11483516;11713295;12176364;12370088;12477932;12773374;12810066;14702039;14728725;14737182;14755250;15314065;15489334;15815621;16169070;16189514;16431367;16461635;16520378;16716190;16730941;16760479;16854379;17078930;17146056;17159328;17261583;17711858;18029348;18388320;18758443;19056867;19060904;19373254;19615732;19684015;19906316;20159979;20622874;20936779;21139048;21448666;21706016;21827950;21890473;21988832;22626734;22800866;22863883;23000965;23542699;23562397;24151880;24354023;24654937;24816145;24961813;24975362;24980434;25070368;8619474;9110174 10617 C9JEK5;C9JK83;C9JZ93;F5H5B9;O95630 ABBA01075587;ABBA01075588;ABBA01075589;AC073046;AF052135;AK023768;AMYH02004081;AMYH02004082;AMYH02004083;AX100575;BC007682;BC065574;BC101467;BC101469;BF203378;BM478027;BQ929694;BX538085;CH471053;CX758449;DB477012;DN919763;DR158757;EU927390;NG_033223;NM_006463;NM_201647;NM_213622;U73522;XM_005264088;XM_005264091;XM_006711920;XM_006711921 AAD05037;AAH07682;AAH65574;AAI01468;AAI01470;AAX88908;ABM83542;ABM86782;ACH57452;CAC36455;EAW99714;EAW99715;EAW99716;NP_006454;NP_964010;NP_998787;O95630;XP_005264145;XP_005264148;XP_006711983;XP_006711984 Hs.469018 1677987;1690680;1695690;1707702;1796880;1858356 D12S1222E;RH81009;SHGC-78733;SHGC-82024;STAMBP_1334;WI-12512 AMSH;MGC126516;MGC126518 MICCAP;OTTHUMP00000160249;OTTHUMP00000202512;OTTHUMP00000202513;STAM-binding protein;associated molecule with the SH3 domain of STAM;endosome-associated ubiquitin isopeptidase APPROVED protein-coding ENSG00000124356 HGNC:16950 05877 606247;614261 REVIEWED 1601996 STAP2 signal transducing adaptor family member 2 This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 623592 627059 + 4324040 4342783 - 4324043 4342786 - 6480464 10980601;11441184;12477932;12540842;12810085;14702039;15489334;15611091;16365431;17512498;17675501;18029348;18573890;19393627;19401194;19933863;20467438;20677014;20706999;20929863;22231445;22611243;23700042;24250222;7644468 55620 M0QY82;M0QZ60;M0R0J5;M0R2W4;Q9UGK3 ABBA01056077;ABBA01056078;ABBA01056079;ABBA01056080;AC008616;AC104521;AJ245719;AK000241;AK125774;AMYH02035283;BC000795;BF677969;NM_001013841;NM_017720;XM_005259592;XM_006722790;XM_006722791;XM_006722792 AAH00795;BAA91028;CAB65105;NP_001013863;NP_060190;Q9UGK3;XP_005259649;XP_006722853;XP_006722854;XP_006722855 Hs.194385 1678665;2160104 RH91102;WI-18176 BKS;FLJ20234 BRK substrate;breast tumor kinase substrate;brk kinase substrate;signal-transducing adaptor protein 2;signal-transducing adaptor protein-2 APPROVED protein-coding ENSG00000178078 HGNC:30430 07430 607881 REVIEWED 7824771 STAM-AS1 STAM antisense RNA 1 (head to head) p12.33 14702039;23382218 102723166 AC069542;AK123677;HG502709;NR_110370 Hs.547311 locus3182 ncrna HGNC:49568 VALIDATED 1320313 STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] 10 10 10 p14-p13 17619602 17691384 + 17686124 17758823 + 17644125 17716824 + 1580863;6480464;6484113;6907045 10383417;10899310;10982817;11031247;11390366;11687594;12477932;12551915;12745081;12750381;12810066;12972556;13679051;14702039;15113837;15231748;15314065;15489334;15640163;15828871;15951569;16189514;16344560;16385451;16431367;16520378;16716190;16730941;16735510;16760479;16771824;16964243;16964398;17078930;17081983;17711858;17878339;18067320;18468998;19054391;19111546;20150893;20159979;20505072;20639865;20736164;20927613;21139048;21187078;21890473;21906983;21963094;21987572;22275353;22505724;22626734;22939629;23000965;23080069;23314748;24151880;24255178;24344129;24790097;8780729;9133424;9407053 8027 A6NMU3;B4DZT2;C9J1E5;Q92783 ABBA01034552;AC069542;AK024383;AK303083;AK314405;AMYH02022253;AMYH02022254;AU118708;BC030586;BX647982;CH471072;EF445033;GN344117;KF455212;NM_003473;NR_037774;U43899;XM_005252603 AAC50734;AAH30586;ACA06077;ACA06078;BAG37028;BAG64194;CAY55994;EAW86207;EAW86208;EAW86209;NP_003464;Q92783;XP_005252660 Hs.335391 1656623;1705636;1796882;1849497;2158755;2159153;2169980 G22042;RH45982;RH46555;RH70633;SHGC-83385;STAM_850;STS-H94886 DKFZp686J2352;STAM-1;STAM1 HSE1 homolog;OTTHUMP00000019237;signal transducing adapter molecule 1 APPROVED protein-coding ENSG00000136738 HGNC:11357 03542 601899 REVIEWED 1315225 STARD10 StAR-related lipid transfer (START) domain containing 10 ENCODES a protein that exhibits lipid binding (inferred); INVOLVED IN bile acid secretion (inferred); positive regulation of peroxisome proliferator activated receptor signaling pathway (inferred); FOUND IN cytosol (inferred); intercellular canaliculus (inferred); membrane (inferred); INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; aflatoxin B1; copper(2+) sulfate 11 11 11 q13 69770308 69809280 - 72465774 72504750 - 72754729 72793705 - 6480464 10810093;12477932;14576202;14702039;15489334;15911624;17207965;17561512;19676041;19913121;20543867;20628086;21706016;21832049;23455924;23514108;23850713;24250222;9610721 10809 F5GWK5;F5GY07;F5GY11;F5GY42;F5H0V7;F5H1Z6;F5H3G8;F5H5A8;F5H8G1;F5H8H3;H0YFF3;H0YGA9;H0YGN8;H0YH17;Q9Y365 ABBA01017531;ABBA01017532;ABBA01017533;AF039696;AF151810;AK095668;AK315255;AMYH02025079;AMYH02025080;AP002381;AP003065;BC007919;BC014033;BC035482;CH471076;JX424571;NM_006645 AAC18045;AAD34047;AAH07919;AAH14033;ADQ32095;AGL91771;BAG53103;EAW74867;EAW74868;EAW74869;EAW74870;EAW74871;EAW74872;NP_006636;Q9Y365 Hs.188606 1663032;2191227 MARC_16447-16448:1019678436:1;RH12670 CGI-52;MGC14401;NY-CO-28;PCTP-L;PCTP2;SDCCAG28 OTTHUMP00000237455;OTTHUMP00000237456;OTTHUMP00000237457;OTTHUMP00000237458;OTTHUMP00000237459;OTTHUMP00000237460;PCTP-like protein;START domain containing 10;START domain-containing protein 10;antigen NY-CO-28;serologically defined colon cancer antigen 28;stAR-related lipid transfer protein 10 protein-coding ENSG00000214530 HGNC:10666 18116 VALIDATED 6481073 STARD13-AS STARD13 antisense RNA 13 13 33845571 33855471 + 33277554 33281334 + 100874241 ABBA01010156;AL137709;AL627232;AMYH02027833;BX103803;NR_046693 Hs.662433 1689386 RH92821 STARD13-AS2 APPROVED ncrna ENSG00000236581 HGNC:40873 VALIDATED 735413 STAR steroidogenic acute regulatory protein The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008] 8 8 8 p11.2 36952763 36961143 - 38000218 38008783 - 38142700 38151265 - 1600070;1599698;4845252;4145934;4145630;4832477;4833436;4889107;4889527;4145530;4145592;2325883;6480464;7240710;8554872;8699517 16574160;17244746;17880366;17881205;18481435;18821018;19349910;19698287;20389168;20826654;8634702;9326645 10323391;10548884;10566637;10802740;11061515;11145563;11489878;12044915;12372832;12477932;12530644;12727988;12834921;12843197;12909641;12925534;12933667;14565954;14702039;14726488;14764819;15181096;15489334;15546900;15583024;15666812;15777208;15897605;15985476;16162390;16169070;16234239;16901925;16973755;16990645;17374711;17433772;17666473;18000307;18084157;18191841;18250166;18331352;18341481;18450961;18490834;18505908;18583320;18636124;18665078;18729825;18829024;18945429;19001523;19022561;19095060;19231010;19271249;19272380;19453261;19744555;19849856;19899816;19903795;19913121;19930843;19946756;20199803;20379614;20444910;20601698;20628086;20660033;20734064;20877624;21145937;21147196;21164258;21217523;21334384;21350237;21647419;21846663;22213075;22253417;22634420;23029457;23158025;23211570;23330251;23748066;23825130;23920000;24053410;24124408;24140593;25001622;7547998;7548191;7761400;8619474;8943003;8948562;9097960;9110174;9188726;9398748;9804848 6770 E5RH12;H0YB94;P49675;Q6IBK0 ABBA01023550;AC084024;AF035277;AK090513;AK315122;AL526126;AMYH02017825;AV706111;AV706872;AV707696;AV708514;AY532319;BC010550;BX647744;CH471080;CR456803;CR541850;DQ194260;DQ194261;DQ243706;KF459602;NG_011827;NM_000349;S79669;U17280;U29105;XM_005273619;XM_005273620;XM_006716392;XM_006716393 AAB35726;AAB88174;AAC50141;AAC50234;AAH10550;AAS57684;ABA25863;ABA25864;ABB51615;ABM82732;ABM85916;BAG37577;CAG33084;CAG46648;EAW63334;EAW63335;NP_000340;P49675;XP_005273676;XP_005273677;XP_006716455;XP_006716456 Hs.521535 1767234;1798228;2112832;2138728;5015619;5016478 D11S3114;D8S2291;G15988;GDB:434012;SGC31588;STAR_2298 STARD1 OTTHUMP00000225718;OTTHUMP00000225719;OTTHUMP00000225878;START domain containing 1;START domain-containing protein 1;StAR-related lipid transfer (START) domain containing 1;cholesterol trafficker;mitochondrial steroid acute regulatory protein;steroid acute regulatory protein;steroidogenic acute regulator;steroidogenic acute regulatory protein, mitochondrial APPROVED protein-coding HGNC:11359 02794 201710;300707;600617 REVIEWED 6481078 STARD13-AS1 STARD13 antisense RNA 1 10737800 100874240 AL139187;BE151634 APPROVED miscrna HGNC:40872 6480962 STARD13-IT1 STARD13 intronic transcript 1 (non-protein coding) q13.1 100874373 AL139187 ncrna HGNC:41453 1322986 STAM2 signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008] 2 2 2 q23.3 146587981 146647203 - 152973315 153032506 - 152116801 152175992 - 1580863;6480464;6484113;6907045 10567358;10899310;10982817;10993906;11031247;11076863;11230166;11256614;11687594;12218189;12477932;12551915;12750381;13129930;13679051;14702039;15113837;15144186;15212941;15231747;15231748;15489334;15489336;15815621;15882967;15951569;15962011;16159959;16189514;16381901;16429130;16713569;16730941;17081983;17403676;17588522;18029348;19054391;19060904;20159979;20504764;20736164;21121635;21139048;21890473;21906983;21963094;21987572;21988832;22140097;22275353;22493438;22841719;22863883;22939629;22976291;23000965;23222715;23275563;23477725;24025145;24377927;24778033;9119409 10254 O75886 ABBA01004786;ABBA01004787;ABBA01004788;ABBA01004789;AC079790;AF042273;AF042274;AK023490;AK292265;AK292847;AK310863;AL133600;AL161997;AMYH02004992;AMYH02004993;BC022277;BC028740;BI548350;BQ000599;CH471058;NM_005843 AAC63963;AAC63964;AAH28740;AAY14712;ABM83353;ABM86567;BAF84954;BAF85536;CAB63735;CAL38297;EAX11490;EAX11491;EAX11492;NP_005834;O75886 Hs.17200 1685734;1713143;1734734;1740085;2162619;2168392 D2S1522E;D2S2132;G16337;RH120358;RH80556;WI-20935 DKFZp564C047;Hbp;STAM-2;STAM2A;STAM2B HSE1 homolog;Hrs-binding protein;OTTHUMP00000162711;STAM-like protein containing SH3 and ITAM domains 2;signal transducing adapter molecule 2 APPROVED protein-coding ENSG00000115145 HGNC:11358 05876 606244 REVIEWED 6766400 STARD4-AS1 STARD4 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 5 5 5 q22.1 106793525 107021017 + 110847924 111075423 + 111512226 111739726 + 8554872 23251661 100505678 ABBA01069068;ABBA01069069;ABBA01069070;AC008967;AC011422;AC022108;AMYH02011970;AMYH02011971;AMYH02011972;CR749489;HG498327;KF510879;NR_040093 Hs.745061 1339068;1657136;1677588;1689338;1703242;1712174;1712725;1771548;1780896;1848552;1854150;2122231;2129436;2166730;2186724;5093944 A009Z18;D5S2051;G33015;G54138;L28299;RH11754;RH12080;RH121059;RH44458;RH46250;RH65318;SGC32386;SHGC-52395;SHGC-54512;STS-H60560;bac53212T APPROVED ncrna ENSG00000246859 HGNC:44117 VALIDATED 1319833 STARD4 StAR-related lipid transfer (START) domain containing 4 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008] 5 5 5 q22.1 106779623 106793758 - 110831731 110848234 - 111496033 111512536 - 1580863;6480464 12011452;12477932;14702039;15760897;16579971;18403318;19913121;20059974;20379614;20628086;21139048;21767660;21890473;21900492;21906983;22505724;23000965;23033213 134429 D6RDM5;D6REN7;D6RIC8;Q86TN9;Q96DR4 ABBA01069070;AC011422;AF480299;AK026207;AK054566;AK125317;AK290312;AK308851;AK310848;AK315863;AK315869;AL832599;AMYH02011970;BC019632;BC042956;CH471086;NM_139164;XM_005271881;XM_005271884;XR_427703 AAH42956;AAL87129;BAB70759;BAF83001;BAF98754;BAF98760;CAD89942;EAW49026;EAW49027;EAW49028;EAW49029;EAW49030;EAW49031;NP_631903;Q96DR4;XP_005271938;XP_005271941 Hs.93842 1699294;1699440;2106653;5016781 RH103232;RH103311;SHGC-67307;STARD4__5333 OTTHUMP00000159001;OTTHUMP00000222822;OTTHUMP00000222826;OTTHUMP00000222827;START domain containing 4 sterol-regulated;START domain containing 4, sterol regulated;START domain-containing protein 4;stAR-related lipid transfer protein 4 APPROVED protein-coding ENSG00000164211 HGNC:18058 06133 607049 PROVISIONAL 1347857 STARD3 StAR-related lipid transfer (START) domain containing 3 This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 17 17 17 q11-q12 34453066 34480183 + 37793333 37820454 + 39637080 39664201 + 1580863;6480464;8554872 10802740;10995240;11053434;11196440;12011452;12011453;12070139;12398991;12459035;12477932;14702039;14715710;15010812;15489334;15718238;15930133;16709157;16990645;17117180;17897319;18331352;19124506;19272380;19913121;19965586;20198306;20628086;20686565;21322544;24097068;24105263;24291029;7490069;8125298;9139840;9237999;9270027 10948 C9J555;J3KSH0;J3KSL3;J3KT87;J3QLA7;J3QLM1;J3QLS1;J3QRG8;J3QRM3;J3QS10;Q14849 AB209772;ABBA01031860;ABBA01031861;AC087491;AK123364;AK225069;AK300176;AK300842;AK301524;AK303114;AL831952;AMYH02033385;BC008356;BC008747;BC019286;BC025679;BC047766;BT006964;CH471152;D38255;DC367486;NM_001165937;NM_001165938;NM_006804;X80198;XM_006721645;XM_006721646;XR_243628;XR_429868 AAH08356;AAH08747;AAH25679;AAP35610;ABM84661;ABM92192;ACE86541;ACE87222;BAA22525;BAD93009;BAG53896;BAG61955;BAG62493;BAG63027;BAG64220;CAA56489;EAW60584;EAW60585;NP_001159409;NP_001159410;NP_006795;Q14849;XP_006721708;XP_006721709 Hs.728838 1672006;1675612;1683277;2124465;2218586 PPP1R1B_4142;RH66410;RH91094;SHGC-31632;WI-19537 CAB1;FLJ41370;MLN 64;MLN64;es64 OTTHUMP00000164279;OTTHUMP00000164281;START domain-containing protein 3;metastatic lymph node gene 64 protein;metastatic lymph node protein 64;stAR-related lipid transfer protein 3;steroidogenic acute regulatory protein related APPROVED protein-coding ENSG00000131748 HGNC:17579 06132 607048 REVIEWED 1317618 STARD5 StAR-related lipid transfer (START) domain containing 5 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD5 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008] 15 15 15 q26 58542985 58554503 - 81605007 81616524 - 81312666 81324183 - 1580863;6480464;8554872 11247670;12011452;12477932;12770731;14702039;15489334;15583024;15760897;15897605;16534142;19474188;19913121;20237496;20628086;8125298 80765 H0YLW4;Q9NSY2 ABBA01060637;AC103858;AF480304;AK026352;AK097024;AK225479;AL137657;AMYH02030896;BC004365;CH471136;NM_181900;XM_006720702;XM_006720703 AAH04365;AAL89654;CAB70862;EAW99095;EAW99096;EAW99097;NP_871629;Q9NSY2;XP_006720765;XP_006720766 Hs.513075 1847864;2128117;2136917;2139156 D15S1512;RH120871;STS-W15415;WI-14768 MGC10327 OTTHUMP00000190848;START domain containing 5;START domain-containing protein 5;stAR-related lipid transfer protein 5 APPROVED protein-coding HGNC:18065 09517 607050 VALIDATED 1351128 STARD6 StAR-related lipid transfer (START) domain containing 6 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008] 18 18 18 q21.2 48707357 48736740 - 51851062 51880943 - 54324692 54354573 - 1580863;6480464;8554872 12011452;19913121;20628086 147323 J3QRT9;P59095 ABBA01018716;AC093462;AF480305;AMYH02034756;AMYH02034757;CH471096;NM_139171 AAI40309;AAI46469;AAL89655;EAW63002;EAW63003;EAW63004;EAW63005;NP_631910;P59095 Hs.438779 OTTHUMP00000163555;START domain containing 6;START domain-containing protein 6;stAR-related lipid transfer protein 6 APPROVED protein-coding ENSG00000174448 HGNC:18066 09518 607051 PROVISIONAL 1318520 STARD3NL STARD3 N-terminal like This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011] 7 7 7 p14-p13 38202354 38254700 + 38217808 38270272 + 38178206 38230671 + 1580863;6480464;8554872 12393907;12477932;12690205;12853948;12975309;14702039;15489334;15718238;16709157;17081983;17213182;17897319;18187620;18636124;19322201;19801982;19913121;19946888;20628086;20881960;21139048;21906983;21988832;22310353;22504420;23000965;24105263;9847074 83930 C9J3F5;C9JJ39;C9JKL2;C9JPX5;O95772 ABBA01056924;ABBA01056925;AC006033;AC093460;AC244625;AI289220;AJ492267;AK091579;AK315404;AMYH02015549;AY358645;BC003074;BC005959;CH236951;CH471073;CS101346;DT218211;KF511029;NG_030015;NM_032016;X85793;XM_005249880;XM_005249881;XM_006715789 AAH03074;AAH05959;AAQ89008;AAS07552;ABM86264;BAG37796;CAA59792;CAD37353;CAJ00716;EAL23983;EAW94088;EAW94089;EAW94090;NP_114405;O95772;XP_005249937;XP_005249938;XP_006715852 Hs.309753;Hs.744885 1338453;1678289;1786444;1790573;2118260;7187381 D7S2497;HSC205_(7Gr378mb);RH80173;SHGC-172109;STS-F09950 MGC3251 MENTHO;MLN64 N-terminal domain homolog;OTTHUMP00000135265;OTTHUMP00000135266;OTTHUMP00000207234;OTTHUMP00000207235;OTTHUMP00000207236;OTTHUMP00000207237;STARD3 N-terminal-like protein APPROVED protein-coding ENSG00000010270 HGNC:19169 18117 611759 REVIEWED 1606112 STARD7-AS1 STARD7 antisense RNA 1 2 2 2 q11.2 91347165 91348889 + 96874154 96908361 + 96208416 96242623 + 12477932;14702039 285033 Q3KRF4 ABBA01036593;ABBA01036594;AC012307;AI218644;AK057419;AK311432;AMYH02004329;BC101730;BC101732;CH471207;NR_046322 AAI01731;AAI01733;EAW71380;EAW71381 Hs.58648 1681532;2220594 RH93980;UniSTS:485708 MGC126779;MGC126781 hypothetical protein LOC285033;uncharacterized protein LOC285033 APPROVED ncrna HGNC:40827 18772 VALIDATED 1344085 STARD13 StAR-related lipid transfer (START) domain containing 13 This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 13 13 13 q13.1 14744113 14926471 - 33677272 34250932 - 33103135 33676807 - 1580863;6480464;8554872 12477932;12531887;14697242;14702039;14985079;15057823;15231748;15342556;15489334;16217026;16344560;16364308;16712791;17016643;17380510;17519008;18651974;19250640;19520772;19668331;19913121;20208559;20364137;20379614;20600027;20628086;20629949;22204965;22328512;22614672;22693547;23162637;23175628;23316797;23517042;23942779;24250222;24253896;24333506;24627003;8812419 90627 B2R789;B3KRK6;H3BRG5;H3BUW7;Q9Y3M8 AA256386;ABBA01010154;ABBA01010155;ABBA01010156;ABBA01010157;ABBA01010158;ABBA01010159;ABBA01010160;ABBA01010161;AK091804;AK094704;AK095114;AK308430;AK308453;AK312888;AL049801;AL138999;AL139081;AL139187;AL139383;AL161719;AL627232;AMYH02027832;AMYH02027833;AMYH02027834;AMYH02027835;AMYH02027836;AMYH02027837;AMYH02027838;AMYH02027839;AMYH02027840;AY082589;AY082590;AY082591;AY082592;AY366448;BC046563;BP233049;BX641149;BX647695;CB163673;CH471075;DA312208;DB449764;DC402824;NG_029752;NM_001243466;NM_001243474;NM_001243476;NM_052851;NM_178006;NM_178007;XM_005266586;XM_006719888;XM_006719889;Z84483 AAH46563;AAL91648;AAL91649;AAL91650;AAL91651;AAQ72791;BAG35736;BAG52418;BAG52916;BAG52987;CAB42562;CAC94774;CAE46065;CAI46026;EAX08527;EAX08528;EAX08529;EAX08530;EAX08531;NP_001230395;NP_001230403;NP_001230405;NP_443083;NP_821074;NP_821075;Q9Y3M8;XP_005266643;XP_006719951;XP_006719952 Hs.156551;Hs.507704;Hs.721224 1667109;1689386;1723525;1769443;1850078;1850643;2112080;2112084;2113316;2113412;2113458;2144466;2158289;2191309;5017855 D13S1692;D13S1694;D13S1719;D13S1770;D13S1794;D13S879;G31140;MARC_17243-17244:1024600391:1;RH118580;RH46278;RH92821;SHGC-35134;STAR;STS-H81269;WI-11449 46H23.2;ARHGAP37;DLC-2;DLC2;FLJ37385;GT650;LINC00464 OTTHUMP00000178559;OTTHUMP00000178560;OTTHUMP00000205446;Rho GTPase activating protein on chromosome 13q12;START domain containing 13;START domain-containing protein 13;deleted in liver cancer 2 protein;long intergenic non-protein coding RNA 464;rho GTPase-activating protein;stAR-related lipid transfer protein 13 APPROVED protein-coding ENSG00000133121 HGNC:19164 11607 609866 REVIEWED 1351860 STARD8 StAR-related lipid transfer (START) domain containing 8 This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010] X X X q13.1 68220334 68298611 + 67867511 67945684 + 68647669 68725842 + 1580863;6480464;8554872 12477932;15489334;15772651;16685650;17297465;17517630;17976533;19913121;20628086;8724849 9754 E5RFN7;Q92502 ABBA01067377;ABBA01067378;ABBA01067379;ABBA01067380;ABBA01067381;ABBA01067382;AK291747;AL360076;AL732324;AMYH02039646;BC035587;BQ019015;CH471132;CR749411;D80011;NG_016856;NM_001142503;NM_001142504;NM_014725;XM_005262314;XM_005262315 AAH35587;ABM81843;BAA11506;BAF84436;CAH18253;EAX05374;EAX05375;NP_001135975;NP_001135976;NP_055540;Q92502;XP_005262371;XP_005262372 Hs.95140 1701932;2162145;2170826 DXS7459;RH25403;STS-AA027102 ARHGAP38;DKFZp686H1668;DLC3;KIAA0189;STARTGAP3 OTTHUMP00000023455;OTTHUMP00000226680;START domain containing 8;deleted in liver cancer 3 protein;stAR-related lipid transfer protein 8 APPROVED protein-coding ENSG00000130052 HGNC:19161 06730 300689 REVIEWED 1353402 STARP1 steroidogenic acute regulatory protein pseudogene 1 13 13 13 q21.32 46754656 46785724 - 65854187 65885295 - 65280055 65311163 - 7761400 6771 ABBA01050270;AL139088;AMYH02028184;NG_002464;U29106 1767234;2112832 D8S2291;G15988 STARD1P1 pseudo HGNC:11360 INFERRED 1349851 STARD9 StAR-related lipid transfer (START) domain containing 9 ENCODES a protein that exhibits microtubule binding; microtubule motor activity; INVOLVED IN metabolic process; spindle assembly; FOUND IN centriole; cytoplasm; Golgi apparatus; INTERACTS WITH aflatoxin B1; ethyl methanesulfonate; formaldehyde 15 15 15 q15.2 19635565 19780951 + 42867857 43013196 + 42575634 42720998 + 6480464 10718198;12477932;16169070;16964419;18464913;19913121;20309963;20628086;21382349;22153075;7633422 57519 H3BMX7;H3BN21;Q9P2P6 AB037721;ABBA01038365;ABBA01038366;AC018362;AC090510;AK025589;AK122666;AK297603;AL133579;AMYH02030287;AMYH02030288;AMYH02030289;AMYH02030290;AMYH02030291;BX648326;CR627426;CR749416;CR936665;NM_020759;XM_006720621;Z47043;Z47044 BAA92538;BAB15181;BAC85502;BAG59988;CAA87105;CAB63725;CAH10513;CAH18258;NP_065810;Q9P2P6;XP_006720684 Hs.122061 1681710;1681760;1689797;1728969;1736720;1736722;1736730;1736824;1761111;2108945;2146673;2157556;5024756;5037552;5095986 D15S742;D15S743;D15S750;D15S809;D15S810;D8S2279;G17861;RH15755;RH80030;RH92551;RH93705;RH99283;SHGC-145117;STARD9__5334.2;sts-Z47043 DKFZp686O248;DKFZp686P19131;DKFZp781J069;FLJ16106;FLJ21936;KIAA1300 START domain containing 9;START domain-containing protein 9;stAR-related lipid transfer protein 9 protein-coding ENSG00000159433 HGNC:19162 614642 PROVISIONAL 1316908 STARD7 StAR-related lipid transfer (START) domain containing 7 Although the function of this gene is not known, its existence is supported by mRNA and EST data. The predicted gene product contains a region similar to the STAR-related lipid transfer (START) domain, which is often present in proteins involved in the cell signaling mediated by lipid binding. Alternatively spliced transcript variants have been described, although some transcripts occur only in cancer cell lines. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 91291407 91315383 - 96850597 96874573 - 96184859 96208835 - 6480464 12477932;14702039;15013637;15146197;15489334;17672918;19679347;20042613;21622533;21906983;22063720;22952907;23247143;23824909;24250222 56910 C9JTD3;Q9NQZ5 AB075479;ABBA01036594;ABBA01036595;AC012307;AF270647;AK023234;AK054615;AK094925;AK096666;AK291190;AL542720;AMYH02004326;AMYH02004327;AMYH02004328;AMYH02004329;BC003028;BC007894;BC008894;BC009998;BC012774;BC012793;BC013279;BC014076;BC014274;BC032106;CH471207;CN394859;CR749695;NM_020151 AAF81750;AAH07894;AAH08894;AAH09998;AAH12774;AAH12793;AAH13279;AAH14076;AAH14274;AAH32106;AAY24223;BAF83879;BAG51400;EAW71382;EAW71383;NP_064536;Q9NQZ5 Hs.469331 1669622;1682768;1698646;1727969;1734738;1734866;2126926;2127027;2184570;5022200;5022578 D1S1423;D2S1526E;D2S1601E;D2S1628E;D2S2837;G29310;G63404;L18426;RH102880;RH70330;RH78834 GTT1 OTTHUMP00000161014;START domain containing 7;START domain-containing protein 7;gestational trophoblastic tumor protein 1;stAR-related lipid transfer protein 7, mitochondrial APPROVED protein-coding ENSG00000084090 HGNC:18063 18118 VALIDATED 1343297 STAG2 stromal antigen 2 The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] X X X q25 123479289 123621302 + 123094475 123236506 + 123960560 124102656 + 1580863;6480464;6907045;8554872 10931856;11076961;11590136;12034751;12477932;14660624;15302935;15489334;15737063;15737064;15772651;15855230;15917200;16159877;16344560;16682347;17081983;17112726;17113138;17349791;17962804;18029348;19471022;19822671;19946888;20360068;20818333;21043528;21139048;21444719;21852505;21890473;21906983;21963094;21987589;22132872;22145905;22586326;22668012;22751501;22797925;22939629;23000965;23383273;23752268;23874961;24088605;24121789;24121791;24324008;24335498;24816145;7690594;8889548;9305759 10735 B1AMS8;B1AMS9;B1AMT0;B1AMT1;B1AMT2;B1AMT3;B1AMT4;E7ERE6;Q6AI02;Q6MZM3;Q6MZP3;Q8N3U4 AA428995;ABBA01036415;ABBA01036416;ABBA01036417;ABBA01036418;ABBA01036419;ABBA01036420;ABBA01036421;ABBA01036422;ABBA01036423;ABBA01036424;ABBA01036425;ABBA01036426;ABBA01036427;ABBA01036428;ABBA01036429;ABBA01036430;AK026678;AK098737;AK298633;AK313559;AL121601;AL355476;AL831939;AMYH02040417;AMYH02040418;AMYH02040419;AMYH02040420;AMYH02040421;AMYH02040422;BC001765;BC017095;BQ425643;BX640970;BX641002;BX641003;CB250478;CF136218;CH471107;CR627425;CR749433;DA214149;DA534452;DB225303;NG_033796;NM_001042749;NM_001042750;NM_001042751;NM_001282418;NM_006603;XM_005262357;XM_005262358;XM_005262359;XM_005262360;XM_005262361;XM_006724727;XM_006724728 AAH01765;ADZ15945;BAG36333;BAG60808;CAD38591;CAE45985;CAE46005;CAE46006;CAH10512;CAH18271;EAX11853;EAX11854;EAX11855;EAX11856;EAX11857;NP_001036214;NP_001036215;NP_001036216;NP_001269347;NP_006594;Q8N3U4;XP_005262414;XP_005262415;XP_005262416;XP_005262417;XP_005262418;XP_006724790;XP_006724791 Hs.496710;Hs.624663 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6;REN52367;REN52368;REN52369;REN52370;REN52371;REN52372;REN52373;REN52374;REN52375;REN52376;REN52377;REN52378;REN52379;REN52380;REN52381;REN52382;REN52383;REN52384;REN52385;REN52386;REN52387;REN52388;REN52389;REN52390;REN52391;REN52392;REN52393;REN52394;REN52395;REN52396;REN52397;REN52398;REN52399;REN52400;REN52401;REN52402;REN52403;REN52404;REN52405;REN52406;REN52407;REN52408;REN52409;REN52410;REN52411;REN52412;REN52413;REN52414;REN52415;REN52416;REN52417;REN52418;REN52419;REN52420;REN52421;REN52422;REN52423;REN52424;REN52425;REN52426;REN52427;REN52428;REN52429;REN52430;REN52431;REN52432;REN52433;REN52434;REN52435;REN52436;REN52437;REN52438;REN52439;REN52440;REN52441;REN52442;REN52443;REN52444;REN52445;REN52446;REN52447;REN52448;REN52449;REN52450;REN52451;REN52452;REN52453;REN52454;REN52455;REN52456;REN52457;REN52458;REN52459;REN52460;REN52461;REN52462;REN52463;REN52464;REN52465;REN52466;REN52467;REN52468;REN52469;REN52470;REN52471;REN52472;REN52473;REN52474;REN52475;REN52476;REN52477;REN52478;REN52479;REN52480;REN52481;REN52482;REN52483;REN52484;REN52485;REN52486;REN52487;REN52488;REN52489;REN52490;REN52491;REN52492;REN52493;REN52494;REN52495;REN52496;REN52497;REN52498;REN52499;REN52500;REN52501;REN52502;REN52503;REN52504;REN52505;REN52506;REN52507;REN52508;REN52509;REN52510;REN52511;REN52512;REN52513;REN52514;REN52515;REN52516;REN52517;REN52518;REN52519;REN52520;REN52521;REN52522;REN52523;REN52524;REN52525;REN52526;REN52527;REN52528;REN52529;REN52530;REN52531;REN52532;REN52533;REN52534;REN52535;REN52536;REN52537;REN52538;REN52539;REN52540;REN52541;REN52542;REN52543;REN52544;REN52545;REN52546;REN52547;REN52548;REN52549;REN52550;REN52551;REN52552;REN52553;REN52554;REN52555;REN52556;REN52557;REN52558;RH104106;RH120781;RH45607;WI-18026;stSG633572;stSG633573;stSG633574;stSG633576;stSG633577;stSG633578;stSG633579;stSG633580;stSG633581;stSG633582;stSG633583;stSG633584;stSG633585;stSG633586;stSG633587;stSG633588;stSG633589;stSG633590;stSG633591;stSG633592;stSG633593;stSG633594;stSG633595;stSG633596;stSG633597;stSG633598;stSG633599;stSG633600;stSG633601;stSG633602;stSG633603;stSG633604;stSG633605;stSG633606;stSG633607;stSG633608;stSG633609;stSG633610;stSG633611;stSG633612;stSG633613;stSG633614;stSG633615;stSG633617;stSG633618;stSG633619;stSG633620;stSG633621;stSG633622;stSG633623;stSG633624;stSG633625;stSG633626;stSG633627;stSG633628;stSG633629;stSG633630;stSG633631;stSG633633;stSG633634;stSG633635;stSG633636;stSG633637;stSG633638;stSG633639;stSG633641;stSG633642;stSG633643;stSG633644;stSG633645;stSG633646;stSG633647;stSG633648;stSG633649;stSG633650;stSG633651;stSG633653;stSG633654;stSG633655;stSG633656;stSG633657;stSG633659;stSG633660;stSG633661;stSG633662;stSG633663;stSG633664;stSG633665;stSG633666;stSG633667;stSG633668;stSG633669;stSG633670;stSG633671;stSG633672;stSG633673;stSG633674;stSG633675;stSG633676;stSG633677;stSG633678;stSG633679;stSG633680;stSG633681;stSG633682;stSG633683;stSG633684;stSG633685;stSG633686 DKFZp686P168;DKFZp781H1753;FLJ25871;SA-2;SA2;SCC3B;bA517O1.1 OTTHUMP00000024338;OTTHUMP00000043514;OTTHUMP00000043515;OTTHUMP00000081754;OTTHUMP00000081755;SCC3 homolog 2;cohesin subunit SA-2 protein-coding ENSG00000101972 HGNC:11355 05077 300826 REVIEWED 1323217 STAT2 signal transducer and activator of transcription 2, 113kDa The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. Transcription adaptor P300/CBP (EP300/CREBBP) has been shown to interact specifically with this protein, which is thought to be involved in the process of blocking IFN-alpha response by adenovirus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 12 12 12 q13.3 56388733 56407397 - 56735381 56754058 - 56341597 56360271 - 1625126;1580863;1357935;2303397;6480464;6484113;6907045;8554872 12039028;17312100;17880360 10446176;10464260;10490982;10506573;10702714;11150296;11564163;11694501;11786546;11804954;11932384;12048190;12050355;12167251;12220192;12244326;12388709;12477932;12509459;12610111;12777975;12804771;14557668;14645718;14702039;14722125;1502204;15154850;15165826;15175343;15221897;15356134;15467722;15489334;15650219;15668228;15717316;16227264;16501077;16689942;16918696;16978698;17351669;17442890;17538964;17923090;18029348;18338947;18370868;18456457;18579593;18701593;18771758;18796709;19007958;19159017;19169254;19279106;19322201;19351818;19423540;19434718;19561067;19730683;19754307;19913121;20068068;20331378;20403236;20406964;20428775;20438785;20533260;20588308;20628086;20881960;20937132;20953190;21075352;21139048;21268015;21354905;21399658;21498520;21795355;21886773;21890473;21903422;21906983;21988832;22022391;22238643;22426484;22523757;22634037;22859983;22883142;22939624;23000965;23139419;23391734;23456168;23555265;23878400;24144296;24814927;24816145;7559568;7746328;7885841;8601453;8605876;8605877;8621447;8848048;8943351;9020188;9121453;9242679;9724754;9804758 6773 B4DLC8;G3V319;P52630;R9QE65 ABBA01008423;ABBA01008424;AC025574;AK094039;AK295052;AK295114;AK296939;AK296940;AK308051;AK310727;AK316516;AMYH02026567;AMYH02026568;AY525126;BC006092;BC051284;BX640607;CD684210;CH471054;CS542453;DB482283;JX178204;JX178205;JX178206;JX178208;JX178209;JX178210;JX178211;JX178213;JX178214;JX178215;JX178216;JX178217;JX178218;JX178219;JX178220;JX178223;JX178224;JX178225;JX178227;JX178232;JX178234;JX178236;JX178237;JX178238;JX178239;JX178240;JX178241;JX178242;JX178243;JX178245;JX178246;JX178247;JX178249;JX178250;JX178251;JX178252;JX178254;JX178255;JX178256;JX178257;JX178258;JX178260;JX178262;JX178263;JX178264;JX178266;JX178269;JX178273;M97934;NM_005419;NM_198332;S81491;U18671;XM_005269108;XM_005269109;XM_005269110;XM_005269111;XM_006719572;XR_245953;XR_245954 AAA98760;AAB36225;AAB36226;AAB36227;AAH06092;AAH51284;AAS00091;AFM91192;AFM91193;AFM91194;AFM91197;AFM91198;AFM91199;AFM91200;AFM91202;AFM91203;AFM91204;AFM91205;AFM91206;AFM91207;AFM91208;AFM91209;AFM91212;AFM91213;AFM91214;AFM91216;AFM91221;AFM91223;AFM91225;AFM91226;AFM91227;AFM91228;AFM91229;AFM91230;AFM91231;AFM91232;AFM91234;AFM91235;AFM91236;AFM91238;AFM91239;AFM91240;AFM91241;AFM91243;AFM91244;AFM91245;AFM91246;AFM91247;AFM91249;AFM91251;AFM91252;AFM91253;AFM91255;AFM91258;AFM91262;BAG58101;BAG58143;BAG59489;BAG59490;BAH14887;CAE45713;CAM91176;EAW96934;EAW96935;EAW96936;EAW96937;NP_005410;NP_938146;P52630;XP_005269165;XP_005269166;XP_005269167;XP_005269168;XP_006719635 Hs.530595 1660175;1683884;1684692;1789392;1789394;1789396;1789398;1789400;1789402;1789404;1789406;1789408;1789410;1789412;1789414;1789416;1798230;2144932;5015881;5022450;5024761;5109281;5113607 D10S275;D12S1878;D1S1425;G67915;G67916;G67917;G67918;G67919;G67920;G67921;G67922;G67923;G67924;G67925;G67926;G67927;GDB:335751;RH36905;RH40514;RH80815;RH99119;STAT2_258;STS-L27050 ISGF-3;MGC59816;P113;STAT113 OTTHUMP00000244356;OTTHUMP00000244357;OTTHUMP00000244513;interferon alpha induced transcriptional activator;signal transducer and activator of transcription 2;signal transducer and activator of transcription 2, 113kD APPROVED protein-coding ENSG00000170581 HGNC:11363 02778 600556 REVIEWED 730906 STAT5B signal transducer and activator of transcription 5B The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 37005458 37083308 - 40351195 40428478 - 42199177 42276460 - 1625124;1601380;1625126;1580863;1601383;1624963;2291935;2291940;2303397;2291933;6480464;6484113;6907045;7240710;8554872;8699517 11064147;14695191;16730240;17003334;17312100;17327369;17347799;17565389;17880360 10358045;10441338;10506573;10558875;10594041;10602027;10617656;10652277;10720694;10815800;10830280;10954736;10996427;11030348;11097834;11158330;11350939;11440634;11485409;11562369;11726519;11751923;11867689;11923474;11929748;11929749;12036885;12039028;12039059;12089361;12145702;12167251;12193575;12198240;12237455;12377952;12429742;12456798;12477932;12538627;12552091;12605694;12621061;12642867;12847485;12901872;12954634;13679528;14583472;14645506;14662325;14704793;14726409;14726487;15010467;15067053;15105428;15128421;15489334;15588985;15591245;15611091;15644415;15677474;15944278;16025120;16115927;16155412;16169484;16289657;16303763;16464942;16476059;16502315;16584384;16729043;16765629;16772534;16840779;16887981;16920911;16964243;17148664;17225522;17332243;17389811;17438530;17471233;17509524;17546465;17554063;17630355;17639043;17652536;17672932;17726024;17822672;17881646;17997837;18172316;18197699;18276758;18285272;18430728;18550772;18660489;18768844;18831980;18927468;18978678;19011510;19047094;19290007;19349617;19362457;19375647;19423540;19630967;19709433;19738201;19775300;19796718;19913121;19923221;19966185;20065083;20167868;20227268;20233708;20339477;20352702;20372799;20372811;20406964;20415542;20438785;20534752;20538865;20585448;20621061;20628086;20644163;20702587;20716621;20962278;20969921;21106534;21139048;21214269;21276004;21464042;21470284;21670473;21704724;21712541;21752895;21826656;21832049;21890473;21964595;21988832;22053931;22093990;22126101;22159083;22194600;22442148;22505724;22522791;22552610;22678306;22725130;22729867;22863883;22939629;22959364;22977252;23097626;23128233;23130760;23149921;23151802;23160480;23166650;23250732;23271512;23332799;23341462;23406773;23451206;23458731;23465551;23593005;23596048;23601296;23660011;23716595;23773921;23797738;23896798;23929016;24004716;24091309;24155890;24335105;24354892;24523507;24753251;7719938;8631883;8702476;8732682;8878484;8923468;8977232;9047382;9122188;9211920;9398404;9428692;9484840;9528750;9575217;9804779;9813029;9845531;9880255;9989503 6777 C9J4I3;P51692 AB208920;ABBA01006429;ABBA01006430;ABBA01006431;ABBA01006432;ABBA01006433;AC099811;AJ412888;AK308163;AL040162;AL080218;AMYH02033428;BC020868;BC029072;BC065227;CH471152;CQ815791;NG_007271;NM_012448;U47686;U48730;XM_005257625;XM_005257626 AAC50485;AAC50491;AAH20868;AAH65227;ABZ92030;BAD92157;CAD19638;CAG32954;EAW60817;NP_036580;P51692;XP_005257682;XP_005257683 Hs.595276 1335074;1335342;1341858;1658566;1660104;1683483;1732247;1732249;1733468;2117829;2153799;2153862;2154907;2176342;2185412;5109281;5122590 D17S1139;D17S1143;D17S1192;D17S1240;D17S1673;D17S1793;D17S1801;D17S1802;D1S1425;RH16203;RH36528;RH45469;RH91495;SHGC-64296;STS-T90203;STS-U48730;WI-11886 STAT5 OTTHUMP00000198374;transcription factor STAT5B APPROVED protein-coding ENSG00000173757 HGNC:11367 05037 245590;604260 REVIEWED 1352585 STATH statherin INVOLVED IN biomineral tissue development (inferred); ossification (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aluminium oxide; arsenous acid; diarsenic trioxide 4 4 4 q13.3 68215077 68221603 + 70861648 70868173 + 69995931 70002456 + 1580863;6480464;8554872 10728974;10748043;10831095;12060866;12444093;12477932;1313424;15489334;15769251;16203048;1718282;1741693;1747107;19678690;19799638;20237496;20731414;22505607;22563672;23333304;2373369;2483725;3426601;3476566;3502720;7876428;838735;9048421;9109822 6779 P02808 ABBA01022923;AC063956;AK311812;AMYH02009409;BC067219;BX649104;CB958641;CB986973;CH471057;M18078;M18371;M32639;NM_001009181;NM_003154 AAA60593;AAA60594;AAA60600;AAH67219;BAG34755;EAX05603;EAX05604;EAX05605;NP_001009181;NP_003145;P02808 Hs.654495 1784920;2140091;2157210;5091267 D4S2814;SGC35622;SHGC-59549;SHGC4-1838 STR OTTHUMP00000159760;OTTHUMP00000218950 protein-coding ENSG00000126549 HGNC:11369 01696 184470 VALIDATED 1351558 STAU2 staufen double-stranded RNA binding protein 2 Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 8 8 8 q21.11 70330172 70657629 - 74332604 74659943 - 73420369 73747708 - 1580863;6480464;8554872 10585778;10707969;12140260;12477932;14702039;15024055;15489334;16169070;16964243;18094122;19322201;19454010;19946888;21139048;21145461;21508097;21903422;21906983;22505724;23000965;23263869;24144296;24457600;24520823;24778252;24816145;8889548 27067 A8K276;E5RFK1;E5RGQ5;E5RGT3;E5RJ67;E5RJN7;E7EPX0;E7EVI1;E7EVJ4;E9PH62;F8VPI7;G5EA18;H0YBY0;Q4LE57;Q9NUL3 AB210014;ABBA01041967;ABBA01041968;ABBA01041969;ABBA01041970;AC018620;AC027018;AC100784;AF459097;AF459098;AK001576;AK002152;AK023314;AK290141;AK293496;AK293729;AK294466;AK303104;AK307841;AK314617;AL079285;AL079286;AL079288;AMYH02018212;AMYH02018213;AMYH02018214;AMYH02018215;AMYH02018216;AMYH02018217;AMYH02018218;AMYH02018219;AMYH02018220;BC008369;BC008370;BC071766;BC110447;BC110448;CA311807;CH471068;CR627442;DB501161;KF458781;NM_001164380;NM_001164381;NM_001164382;NM_001164383;NM_001164384;NM_001164385;NM_014393;Y19062 AAH08369;AAH08370;AAI10448;AAN37926;AAN37927;ABM87331;ABW03874;BAA91766;BAA92111;BAB14522;BAE06096;BAF82830;BAG37183;BAH11522;BAH11582;BAH11778;BAH13900;CAB64341;CAH10527;EAW87003;EAW87004;EAW87005;EAW87006;EAW87007;NP_001157852;NP_001157853;NP_001157854;NP_001157855;NP_001157856;NP_001157857;NP_055208;Q9NUL3 Hs.561815 1666242;1667456;1671059;1677762;1680481;1704690;1709588;1717481;1728389;1857861;2114270;2121790;2140497;2144697;2163653;2171778;2177827;2179389 A008X48;AFMB336XG5;D8S1387E;D8S1982;G63477;RH122246;RH12642;RH44506;RH93062;RH94104;SHGC-34599;SHGC-56844;SHGC-78998;SHGC-85153;STS-AA027159;WI-14265;WI-16800;WI-17983 39K2;39K3;DKFZp781K0371;MGC119606 OTTHUMP00000226832;OTTHUMP00000226833;OTTHUMP00000226834;OTTHUMP00000226835;OTTHUMP00000226836;OTTHUMP00000226837;OTTHUMP00000226838;OTTHUMP00000226839;OTTHUMP00000226840;OTTHUMP00000226841;OTTHUMP00000226842;OTTHUMP00000226843;double-stranded RNA-binding protein Staufen homolog 2;staufen homolog 2;staufen, RNA binding protein, homolog 2 APPROVED protein-coding ENSG00000040341 HGNC:11371 09328 605920 REVIEWED 1313964 STAT4 signal transducer and activator of transcription 4 The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011] 2 2 2 q32.2-q32.3 185488908 185610548 - 191894302 192037404 - 191029576 191172671 - 1625126;1580863;1357935;6480464;6484113;6907045;7207871;7207876;7240710;7207869;7207877;7207867;6893449;7207879;7207889;7207875;7207872;7207874;7207878;7207881;5509594;7207884;7207888;8554872;5147916;8661701;8661713;8661696;5509614;8661697;8661725;8661714;8661718;6893665;8661690;8661722;8661700;8661711;8661723;2317290;8661709;8661720;8661693;8661691;8661703;8661706;8661724;8661708;8661715 10458767;10553062;11240014;11257135;12039028;16118253;16195404;16403914;16920939;17266445;17312100;18211752;18273036;18296740;18516230;18803832;19286670;19500629;19644887;19950257;20045654;20360187;20438790;20479942;20535138;20978234;20980973;21237270;21360510;21719445;22192168;22328738;22402141;22718836;22729903;22798666;23001997;23049788;23755762;24242758;24321062;24321752;24632671 10415122;10779770;10961885;11397944;11801649;12372421;12426389;12477932;12496413;12615922;12716907;12805384;14660657;14704793;15087447;15489334;15522880;15637551;15744455;15963787;16081070;16301617;17046972;17095088;17532201;17703412;17804842;17932559;18029348;18037959;18204098;18204446;18432273;18434327;18576330;18576336;18579578;18625278;18703106;18759272;18802110;19019891;19092842;19109131;19110536;19120275;19165918;19225526;19258923;19282076;19332627;19333953;19359411;19362457;19371230;19404967;19423540;19479340;19565500;19588142;19605742;19605749;19644876;19674979;19684152;19710469;19717398;19737838;19741008;19762360;19838193;19877059;20049410;20131273;20153791;20169389;20176035;20219786;20233754;20237121;20237496;20353580;20379614;20383147;20406964;20438785;20439292;20444755;20453440;20453841;20453842;20454450;20498205;20503287;20584675;20716621;20797713;20822712;20848568;20861858;20881011;20962850;21163111;21167895;21258797;21383967;21399635;21408207;21418779;21543583;21683716;21740896;21750679;21779181;22001757;22069275;22077060;22133489;22483685;22569826;22714917;22730365;22753649;22937072;23000144;23053960;23064011;23128233;23202532;23242368;23273568;23291587;23295549;23360093;23628400;23727609;23740937;23748017;23773642;23912645;23990947;24014567;24097066;24312163;24390342;24561123;7638186;8007943;8700208;9284918;9630226;9890938;9989503 6775 C9JFG0;C9JM11;E9PBE2;E9PG69;Q14765 AB209043;ABBA01062392;ABBA01062393;ABBA01062394;ABBA01062395;AC067945;AC079777;AF423072;AK299976;AK300868;AK301172;AMYH02005442;AMYH02005443;AX354560;BC016694;BC031212;BF966132;CH471058;DC306142;DC399230;EU304788;EU304789;EU304790;EU304791;EU304792;EU304793;L78440;NG_012852;NM_001243835;NM_003151;XM_005246817;XM_006712719 AAB05605;AAH31212;AAL12164;AAY15055;AAY24184;ABM82474;ABM85662;ACA01857;ACA01858;ACA01859;ACA01860;ACA01861;ACA01862;BAD92280;BAG61799;BAG62516;BAG62759;CAD22977;EAX10846;EAX10847;EAX10848;EAX10849;NP_001230764;NP_003142;Q14765;XP_005246874;XP_006712782 Hs.735572;Hs.80642 1654307;1714427;1794760 PMC55319P3;RH120206;RH17878 SLEB11 OTTHUMP00000163553;OTTHUMP00000205847 APPROVED protein-coding ENSG00000138378 HGNC:11365 02779 600558;612253 REVIEWED 6766940 STAU2-AS1 STAU2 antisense RNA 1 8 8 8 q21.11 70329877 70351314 + 74332309 74353753 + 73420074 73441518 + 14702039 100128126 ABBA01041967;ABBA01041968;AC018620;AK056720;AMYH02018212;AMYH02018213;HG501340;NR_038406 Hs.679921 1666242;2163653;5037552 D8S1387E;D8S2279;RH12642 RP11-181D18.2 APPROVED ncrna ENSG00000253302 HGNC:44101 VALIDATED 732184 STAT1 signal transducer and activator of transcription 1, 91kDa The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 2 q32.2 185428361 185473577 - 191833762 191878976 - 190969036 191014250 - 1600091;1600092;1582346;1600087;1600090;1600103;1600105;1625126;1580863;1357935;2291893;2291895;2291900;2291905;2291892;2298537;2291894;2290484;5686834;5686839;6480464;5688379;6483041;6483023;6483034;6483036;6484113;6907045;7240710;8554872;8699517 11325527;11452125;12039028;12374673;14674010;14678947;15262323;15994429;16799645;16806015;16935931;17067487;17097800;17312100;17670769;17849321;17868458;17897356;21115385;21596098;21881215;22029668;22066025;9748134 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3;24825907;24838635;24886089;24894488;24992036;7510216;7514165;7543024;7657660;7690989;7885841;8125298;8232552;8549654;8605877;8608597;8621447;8631962;8889548;8943351;8986769;9037008;9069288;9121453;9135145;9205132;9284918;9344858;9355737;9373245;9452495;9484840;9584171;9630226;9724754;9804857;9843502;9880553;9925928;9989503 6772 D2KFR9;E7ENM1;E7EPD2;E9PH66;H7BZ88;H7BZB5;J3KPM9;P42224 ABBA01062392;AC067945;AF182311;AI992149;AK096686;AK225853;AK292604;AK315002;AMYH02005442;AX354554;AY366464;AY865620;BC002704;BC141921;BG699050;BT007241;BU738296;BX400908;CH471058;CN410740;CR749636;CR998778;CS542449;CS542451;DA313984;EB385742;GU211347;GU211348;M97935;M97936;NG_008294;NM_007315;NM_139266;U18662;U18663;U18664;U18665;U18666;U18667;U18668;U18669;U18670;XM_006712718 AAB64012;AAH02704;AAI41922;AAP35905;AAR13284;AAW56072;AAY24183;ACE86735;ACE87421;ADA59516;ADA59517;BAF85293;BAG37497;CAD22974;CAH18430;CAM91174;CAM91175;EAX10850;EAX10851;EAX10852;EAX10853;EAX10854;EAX10855;NP_009330;NP_644671;P42224;XP_006712781 Hs.642990;Hs.743244 1647801;1775507;1789368;1789370;1789372;1789374;1789376;1789378;1789380;1789382;1789384;1789386;1789388;1789390;1796884;2164867 G67903;G67904;G67905;G67906;G67907;G67908;G67909;G67910;G67911;G67912;G67913;G67914;RH36288;RH78038;STAT1_425;STS-N69004 CANDF7;DKFZp686B04100;IMD31A;IMD31B;IMD31C;ISGF-3;STAT91 OTTHUMP00000163552;OTTHUMP00000165046;OTTHUMP00000165047;OTTHUMP00000205845;signal transducer and activator of transcription 1;signal transducer and activator of transcription 1, 91kD;signal transducer and activator of transcription 1-alpha/beta;signal transducer and activator of transcription-1;transcription factor ISGF-3 components p91/p84 1643406 BMD6_H APPROVED protein-coding ENSG00000115415 HGNC:11362 02777 209950;600555;613796;614162;614892 REVIEWED 734025 STAU1 staufen double-stranded RNA binding protein 1 Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. Five transcript variants resulting from alternative splicing of STAU gene and encoding three isoforms have been described. Three of these variants encode the same isoform, however, differ in their 5'UTR. [provided by RefSeq, Jul 2008] 20 20 20 q13.1 44434510 44509526 - 47729876 47804907 - 49113339 49188370 - 1580863;6480464;8554872 10022908;10022909;10325410;10707969;10823848;11230166;11780052;12065664;12133005;12147688;12388589;12477932;12843282;14702039;15024055;15121898;15231748;15303970;15489334;15680326;16014633;16196087;17428849;17510634;18094122;18498651;18508616;18806890;19029303;19199708;19322201;19710015;19946888;20020773;20053637;20075165;20459747;20504931;21139048;21145461;21182203;21182205;21282530;21307942;21832049;21900206;21903422;21907836;21945618;22321011;22431750;22503102;22584570;22586326;22779921;22978549;22990118;23000965;23080069;23125841;23254330;23305486;23395680;23455922;23524536;23602568;23722113;23824540;23825951;23907398;23926355;24056942;24457600;24470147;24489884;24778252;24816145;24906885;8884277 6780 B3KRE0;F6UDC6;O95793;Q5JW28;Q5JW30;Q6PJX3 AB209561;ABBA01052733;ABBA01052734;ABBA01052735;ABBA01052736;ABBA01052737;ABBA01052738;AF061938;AF061939;AF061940;AF061941;AJ132258;AK025519;AK057739;AK091405;AK291487;AK292859;AK298372;AL133174;AL136601;AMYH02037204;AMYH02037205;AY529074;AY546099;BC000830;BC001893;BC007532;BC010169;BC050432;BC095397;CH471077;NG_029453;NM_001037328;NM_004602;NM_017452;NM_017453;NM_017454;XM_005260524;XM_005260525;XM_005260526;XM_005260527;XM_005260528;XM_005260529;XM_006723865;XM_006723866;XM_006723867;XM_006723868;XM_006723869 AAD17530;AAD17531;AAD17532;AAD17533;AAH10169;AAH50432;AAH95397;AAS76636;AAS76637;ACE86984;ACE87673;BAD92798;BAF84176;BAF85548;BAG52352;BAG60611;CAB40082;CAB66536;EAW75669;EAW75670;EAW75671;EAW75672;EAW75673;EAW75674;NP_001032405;NP_004593;NP_059346;NP_059347;NP_059348;O95793;XP_005260581;XP_005260582;XP_005260583;XP_005260584;XP_005260585;XP_005260586;XP_006723928;XP_006723929;XP_006723930;XP_006723931;XP_006723932 Hs.596704 1647403;1650357;1665458;1687291;1696894;2111510;2127936;2134946;2163724;2173181;2187288 AL031479;D20S1087;G30939;RH101842;RH11549;RH12471;RH46281;RH98959;STS-T39112;WI-17676;Z94346 FLJ25010;PPP1R150;STAU OTTHUMP00000031233;OTTHUMP00000031234;OTTHUMP00000031235;OTTHUMP00000031236;OTTHUMP00000031238;OTTHUMP00000031239;double-stranded RNA-binding protein Staufen homolog 1;staufen (drosophila, rna-binding protein);staufen, RNA binding protein, homolog 1 APPROVED protein-coding ENSG00000124214 HGNC:11370 03422 601716 REVIEWED 737523 STAT5A signal transducer and activator of transcription 5A The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] 17 17 17 q11.2 37094449 37118845 + 40439565 40463961 + 42287547 42311943 + 1624963;1625126;1580863;1357935;2291932;2291927;2291930;2298539;2303397;6480464;6484113;6907045 11064147;12039028;12082622;15609129;16133357;17173897;17312100;17880360 10037026;10037796;10194762;10358045;10358079;10374881;10428030;10570284;10594041;10602027;10617656;10652277;10825200;10996427;11030348;11097834;11158330;11167825;11413148;11418623;11418668;11440634;11485409;11682624;11722592;11726519;11756417;11779872;11861304;11867689;11923474;11973644;11997457;12039059;12060651;12091337;12193575;12198240;12208876;12237455;12377952;12393707;12456798;12459499;12477932;12574125;12605694;12847485;12901872;12954634;14597631;14637146;14645506;14696092;14704793;14726409;14726487;15010467;15048088;15063762;15128421;15169792;15304355;15313458;15353555;15358227;15489334;15534001;15588985;15592524;15611091;15644415;15652752;15677474;15735688;15795318;16115927;16189514;16289657;16303247;16407271;16455947;16476059;16502315;16532027;16572323;16684963;16729043;16804404;16819511;16840779;16954437;16973758;17015686;17038539;17081983;17128418;17169805;17214852;17220171;17330131;17332243;17376889;17387179;17438530;17639043;17666591;17703412;17726024;17846080;17867599;17913706;17922009;17938255;18023521;18029348;18063684;18172316;18250158;18270368;18271926;18296629;18378698;18413343;18436865;18460645;18483262;18616510;18660489;18779318;18830265;18838617;19036881;19258923;19262752;19276230;19309697;19362457;19423540;19423653;19491198;19571317;19675167;19779039;19797429;19817957;19864382;19923221;19956772;19966185;20065083;20113333;20124477;20196786;20214633;20233708;20331378;20339093;20388848;20406964;20415542;20438785;20489169;20503287;20508164;20530519;20716621;20849385;20952588;20974963;21079973;21220747;21233313;21263150;21464042;21531896;21542777;21602494;21606506;21619451;21698228;21704724;21749449;21763497;21771882;21785216;21816901;21826656;21890473;21900206;21963094;21988832;22046434;22053931;22065720;22159083;22196377;22367509;22505724;22584572;22753752;22781567;22926520;23111066;23128233;23134344;23151802;23161573;23223023;23243289;23262295;23332799;23406773;23438599;23458731;23465551;23533197;23593005;23621408;23660011;23716595;23729680;23733954;23773921;24004716;24040307;24068731;24135280;24155890;24204704;24263804;24335105;24384092;24394665;24523507;24608043;24753251;25043756;7719937;7719938;7925280;8617237;8631883;8702683;8732682;8878484;8977232;9030599;9047382;9122188;9373245;9398404;9484840;9528750;9575217;9657743;9773981;9837784;9880255;9989503 6776 A8K6I5;C9JVV6;K7EIF9;K7EK35;K7EM17;P42229;Q59GY7;Q8WWS9 AB208972;ABBA01006428;AC087691;AC099811;AJ412878;AK291650;AK301457;AK310632;AK310713;AMYH02033428;BC027036;CH471152;CQ815789;DQ471288;HI179066;L41142;NM_001288718;NM_001288719;NM_001288720;NM_003152;U43185;XM_005257624 AAA73962;AAB06589;AAH27036;ABF17939;ABM82649;ABM85826;BAD92209;BAF84339;BAH13486;CAD19637;CAG32953;CBX53841;EAW60819;NP_001275647;NP_001275648;NP_001275649;NP_003143;P42229;XP_005257681 Hs.437058 1717349;1793714;1796888;2183424;2183965 PMC262552P1;RH122165;RH12579;RH71461;STAT5A_260 MGF;STAT5 OTTHUMP00000198376 APPROVED protein-coding ENSG00000126561 HGNC:11366 03301 601511 REVIEWED 1604058 STBD1 starch binding domain 1 ENCODES a protein that exhibits starch binding (inferred); INVOLVED IN muscle contraction (inferred); FOUND IN integral component of plasma membrane (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 4 4 4 q21.1 74527815 74532422 + 77227179 77232283 + 76306026 76311130 + 6480464 12477932;14702039;15231748;15489334;16303743;19915575;20562859;21893048;8828038;9794794 8987 O95210 ABBA01063358;AC034139;AF062534;AK002155;AK074635;AK123795;AMYH02009512;BC022301;CH471057;NM_003943 AAC78827;AAH22301;ABM82900;ABM86091;BAG51020;BAG53961;EAX05782;EAX05783;NP_003934;O95210 Hs.109590 1695310;1754701;2108115;2153233;2165038;2184164;5015961 D15S1477;D4S2479E;GENX-_3414_8882;SHGC-133062;SHGC-63500;SHGC-63501;WI-17734 FLJ41801;GENEX3414;GENX-3414 OTTHUMP00000160602;genethonin 1;genethonin-1;starch-binding domain-containing protein 1 protein-coding ENSG00000118804 HGNC:24854 08460 607406 VALIDATED 1319194 STAT6 signal transducer and activator of transcription 6, interleukin-4 induced The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 12 12 12 q13 57143115 57159124 - 57489187 57505196 - 57095404 57111413 - 1625126;1580863;1357935;2298560;2298559;2298563;2303397;6480464;6484113;6907045;7244143;7243974;7244144;7243976;7243977;7244136;7244138;7243973;7207876;7243978;7244153;7244150;7244151;7829775;7244140;7244137;7244146;8554872 10486156;11086031;11257135;11912448;12039028;12709397;12874250;12900808;15117875;15647835;15687724;16083555;16399078;17312100;17705178;17880360;18273035;19011907;19087723;21985369;22025716;22134058;22867713 10454341;10490661;10490982;10601358;10747856;10856136;11032724;11342629;11369758;11509556;11532018;11574547;11692112;11872954;11912176;11944890;12023955;12058257;12082548;12138096;12161424;12207328;12234934;12426308;12459556;12477932;12605697;12651067;12689929;12759487;12791978;12794133;12935900;14519766;14634100;14704793;14719123;14735150;14746803;14757047;14993689;15004182;15044251;15069079;15105161;15145939;15199062;15297269;15342695;15489334;15522309;15526032;15528258;15588942;15637551;15661890;15695802;15733066;15793005;15888279;16004996;16084752;16103897;16387423;16537510;16547812;16601843;16681592;16810739;16867043;16877367;16951379;17074026;17121586;17151125;17210636;17213269;17237818;17362266;17371990;17433443;17532201;17541284;17606441;17652621;17703412;17883727;18029348;18037959;18191727;18251702;18267973;18294957;18296848;18342537;18345495;18497474;18536936;18626468;18636124;18716132;18846228;19030780;19202006;19247692;19258923;19282076;19362457;19372141;19419769;19423540;19423726;19471022;19488417;19494273;19531027;19540524;19551406;19655172;19665768;19857574;19913121;19949830;20006706;20010912;20040389;20121258;20122976;20128278;20147633;20208534;20211142;20225206;20237496;20339477;20394509;20395963;20406964;20438785;20480530;20498360;20503287;20530519;20576420;20620946;20620947;20624917;20628086;20652946;20716621;20719954;20840631;20859068;20980261;21081493;21093321;21103663;21106524;21123173;21139048;21196282;21268015;21275604;21277633;21340358;21357535;21411736;21595984;21601544;21605467;21762972;21765211;21814192;21906983;21963094;21988832;22012462;22017802;22021169;22025054;22045870;22075330;22094113;22108090;22162773;22226123;22365404;22406175;22451727;22505724;22509288;22534531;22578203;22660217;22661199;22863883;22909160;22939629;22997428;23154639;23184467;23185525;23297791;23313952;23313954;23351078;23461825;23535094;23575898;23651608;23752766;23761323;23815671;23817571;23834954;23844087;23852366;23861779;23935100;24053457;24107646;24491557;24625420;24816145;24856853;24943220;24960198;8085155;8602263;8602264;8609418;8810328;8816495;9392697;9584180;9605853;9651359;9712049;9782085;9989503 6778 A8K4S9;B4DQB3;G3V2H4;G3V2L2;G3V2M3;G3V2X7;G3V370;G3V3E9;G3V568;G3V5I8;G3V5K5;H0YIY2;H0YJH6;P42226;Q5FBW6 AB103088;AB103089;ABBA01008450;AC023237;AF067572;AF067573;AF067574;AF067575;AF417842;AI082533;AK290431;AK291044;AK298721;AK299094;AK308751;AK312471;AK316142;AK316236;AMYH02026578;AX354562;AY615283;BC004973;BC005823;BC075852;BQ028928;BT007380;NG_021272;NM_001178078;NM_001178079;NM_001178080;NM_001178081;NM_003153;NR_033659;U16031;U66574;XM_006719573;XM_006719574;XM_006719575 AAA57193;AAC51204;AAC67525;AAH75852;AAL06595;AAP36044;AAU04439;BAD89431;BAD89432;BAF83120;BAF83733;BAG35377;BAG60875;BAG61154;BAH14513;BAH14607;CAD22978;NP_001171549;NP_001171550;NP_001171551;NP_001171552;NP_003144;P42226;XP_006719636;XP_006719637;XP_006719638 Hs.524518 1337965;1339759;1665499;1712134;1767266;1769647;1796890;2125246;5093412;7185574 A009O16;D12S1644;D12S1691;G32703;G54117;RH44534;RH70573;STAT6_856;STS-X70991 D12S1644;IL-4-STAT;STAT6B;STAT6C OTTHUMP00000245396;OTTHUMP00000245397;OTTHUMP00000245398;OTTHUMP00000245399;OTTHUMP00000245400;OTTHUMP00000245401;STAT, interleukin4-induced;signal transducer and activator of transcription 6;transcription factor IL-4 STAT APPROVED protein-coding ENSG00000166888 HGNC:11368 03302 601512 REVIEWED 730961 STC1 stanniocalcin 1 This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers. [provided by RefSeq, Jul 2008] 8 8 8 p21-p11.2 22662875 22675765 - 23699434 23712320 - 23841921 23854807 - 1580863;2324700;6480464;8554872 15485913 10725397;10947959;11861508;12223480;12406069;12477932;12663264;14500721;14503913;1458489;15062564;15131261;15149855;15340161;15383693;15489334;16109785;16377640;17032941;17272771;17395153;17457011;18164591;18309109;18355956;18590575;18652825;18786506;19267325;19444628;19628018;19712479;19913121;20174869;20383146;20422040;20484106;20628086;20827662;21273618;21465530;21474827;21656524;21672207;21720730;22200953;22537917;22588538;22589738;22693564;22889960;23243022;23263486;23382863;23566487;23664860;23667669;23757035;7489828;7892193;8700837;9480753;9708804;9794484 6781 B4DN22;P52823 ABBA01005547;AC012119;AF098463;AF242179;AK297734;AK309366;AK312589;AMYH02017622;BC029044;CH471080;NG_029711;NM_003155;S50179;S50184;U25997;U46768 AAA88903;AAC09472;AAC97949;AAH29044;AAL79522;ABM81739;ABM84894;BAG35483;BAG60084;EAW63610;NP_003146;P52823 Hs.25590 1792986;1850875;2109891;2119297;2159774;2185329 PMC179881P1;RH18022;RH70507;RH71409;SGC35548;STC1_8652 STC;STC-1 OTTHUMP00000123536;OTTHUMP00000225201;stanniocalcin-1 APPROVED protein-coding ENSG00000159167 HGNC:11373 03115 601185 REVIEWED 1352877 STC2 stanniocalcin 2 This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 168774827 168789607 - 172741726 172756506 - 173314723 173329503 - 1580863;2324700;2313895;6480464;8554872 15485913;18959458 10022771;10450831;10947959;12477932;14702039;15302935;15367391;15486227;15489334;16169070;16303743;16502470;17545519;17909264;18355956;18394600;18492817;19298603;19322201;19415750;19582875;19786016;20174869;20422456;20424473;20619259;20734150;21906983;21963094;22503972;23187001;23535732;23548070;23664860;23906305;24100594;24375080;24606961;9723890;9753616 8614 E5RG57;H0YB13;O76061;Q6FHC9 AB012664;ABBA01044022;AC106731;AF031036;AF055460;AF098462;AK027390;AK027663;AK075406;AK095862;AK095891;AMYH02012774;BC000658;BC006352;BC013958;BQ181336;BT019591;CH471062;CR541825;CS070234;NM_003714 AAC27036;AAC97948;AAD01922;AAH00658;AAH06352;AAH13958;AAV38398;ACE87039;ACE87723;BAA33489;BAG51314;BAG51363;BAG52131;BAG53160;CAG46624;CAI93195;EAW61399;EAW61400;EAW61401;NP_003705;O76061 Hs.233160 1679992;1681462;1740431;1740479;1740491;1849125;2177115 D5S2241E;D5S2274E;D5S2286E;D5S2651;RH69946;RH94164;RH99126 STC-2;STCRP OTTHUMP00000161103;OTTHUMP00000223604;STC-related protein;stanniocalcin-2;stanniocalcin-related protein APPROVED protein-coding ENSG00000113739 HGNC:11374 04717 603665 REVIEWED 6481305 STEAP2-AS1 STEAP2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 7 q21.13 89882353 90211635 - 8554872 23870195;9847074 100874100 ABBA01045841;ABBA01045842;ABBA01045843;AC002064;AC002541;AC004110;AC004969;AC005053;AC006155;AMYH02016236;AMYH02016237;AMYH02016238;AMYH02016239;BX495845;KF458497;KF458504;NR_110029 Hs.573339 APPROVED ncrna ENSG00000227646 HGNC:40820 VALIDATED 6481200 STEAP3-AS1 STEAP3 antisense RNA 1 q14.2 100874111 AC016673;AK127773 Hs.704682 APPROVED ncrna HGNC:41053 1605372 STEAP3 STEAP family member 3, metalloreductase ENCODES a protein that exhibits cupric reductase activity (inferred); ferric-chelate reductase (NADPH) activity (inferred); ferric-chelate reductase activity (inferred); INVOLVED IN protein secretion; PARTICIPATES IN p53 signaling pathway; ASSOCIATED WITH Anemia (inferred); ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (inferred); Autosomal dominant inheritance (inferred); FOUND IN multivesicular body; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; benzene-1,2,4-triol 2 2 2 q14.2 113307446 113349273 + 119981384 120023228 + 119222730 119265652 + 6480464;6907045;8699517;7240710;8554872 11076863;11230166;12095985;12477932;12606722;14702039;15319436;15489336;16381901;18495927;19236508;20379614;20587610;21139048;21871451;21890473;21906983;21963094;21987572;21988832;22624035;23000965;23958962;25015289;2874839 55240 B8ZZX6;Q658P3 ABBA01045927;ABBA01045928;AC016673;AC016736;AF238864;AF262322;AF423424;AK001691;AK024163;AK291608;AL833624;AMYH02004645;AMYH02004646;AY029585;AY082673;AY214461;BC042150;BC095421;BM146930;BX538047;CH471103;NM_001008410;NM_018234;NM_182915;XM_006712613;XM_006712614;XM_006712615 AAH42150;AAH95421;AAK50538;AAL78206;AAM08128;AAM45136;AAO38238;AAQ04065;AAX88963;AAY14872;BAA91839;BAB14842;BAF84297;CAD97986;CAH56204;CAL37421;EAW95209;EAW95210;EAW95211;EAW95212;NP_001008410;NP_060704;NP_878919;Q658P3;XP_006712676;XP_006712677;XP_006712678 Hs.647822 1298113;1676984;1685419;1711060;1712823;2140949;2163309 D2S2254;RH120128;RH98234;RH99327;SHGC-10888;SHGC-54575;SHGC-86162 AHMIO2;STMP3;TSAP6;hTSAP6 1010001D01Rik;OTTHUMP00000162092;OTTHUMP00000162093;OTTHUMP00000203624;OTTHUMP00000203625;STEAP family member 3;dudlin 2;dudlin-2;dudulin 2;dudulin-2;hpHyde;metalloreductase STEAP3;pHyde;six transmembrane prostate protein 3;six-transmembrane epithelial antigen of prostate 3;tumor suppressor pHyde;tumor suppressor-activated pathway protein 6 APPROVED protein-coding ENSG00000115107 HGNC:24592 10285 609671;615234 VALIDATED 1346905 STGD4 Stargardt disease 4 (autosomal dominant) ASSOCIATED WITH Cone-Rod Dystrophy 12 (inferred); Macular Dystrophy, Retinal, 2 (inferred); Retinitis Pigmentosa 41 (inferred) 7240710 10205271 9634 HGNC:11384 603786;608051;612095;612657 1347045 STEAP4 STEAP family member 4 The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011] 7 7 7 q21.12 82610349 82640811 - 87905744 87936228 - 88276429 88306913 - 1580863;6480464;8554872 11443137;12477932;15897894;16344560;18381574;18430367;18781797;19289123;19787193;20127040;20382686;20885390;21044749;21287513;21287516;21468601;21633911;21718614;21849520;21933608;21963094;21988832;22244520;23095254;23134829;23179203;23553608;23741361;23953178 79689 C9JS50;Q687X5 ABBA01045859;AC003991;AF423422;AF423423;AK026806;AK027807;AK307644;AL832955;AL833044;AL833671;AMYH02016226;BC020600;CH236949;CH471091;CS237169;CS283337;CS300631;DA977808;DB162772;DC333286;NG_028313;NM_001205315;NM_001205316;NM_024636 AAH20600;AAQ04063;AAQ04064;BAB15559;CAH56271;CAJ55791;CAJ90615;CAK32295;EAW76906;EAW76907;NP_001192244;NP_001192245;NP_078912;Q687X5 Hs.521008 1655717;1696428;1710368;1857012;2169233;5022651 AFMa339xa5;D11S2921;SHGC-82451;SHGC-83356;STS-N30680;WI-12106 DKFZp666D049;FLJ23153;STAMP2;TNFAIP9 OTTHUMP00000204498;OTTHUMP00000204514;TIARP;metalloreductase STEAP4;six transmembrane prostate protein 2;six-transmembrane epithelial antigen of prostate 4;sixTransMembrane protein of prostate 2;tumor necrosis factor, alpha-induced protein 9;tumor necrosis-alpha-induced adipose-related protein APPROVED protein-coding ENSG00000127954 HGNC:21923 11637 611098 REVIEWED 1323057 STEAP1 six transmembrane epithelial antigen of the prostate 1 This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The gene product is predicted to be a six-transmembrane protein, and was shown to be a cell surface antigen significantly expressed at cell-cell junctions. [provided by RefSeq, Jul 2008] 7 7 7 q21 84487944 84498232 + 89783689 89794141 + 90154375 90164827 + 1580863;6480464 10588738;11479226;12095985;12477932;12690205;12853948;15489334;15958640;17207965;18793824;18958632;19124506;19196137;19915386;19946888;20628624;21139048;21906983;21928126;22080479;22317770;23060075;23870195;24025158;24239460;9847074 26872 H7C0D8;Q9UHE8 ABBA01045842;AC004969;AF186249;AK304076;AK308452;AMYH02016238;BC011802;BI549469;CH236949;CH471073;CS283329;NM_012449 AAD15620;AAF17479;AAH11802;ADQ32693;BAG64983;CAJ90613;EAL24166;EAL24167;EAW93749;EAW93750;EAW93751;EAW93752;NP_036581;Q9UHE8 Hs.61635 1652032;1688132;1805282;1805484;1806884;1807508;1814482;1821948;1827050;1828890;1833322;1843406;2069674;2069698;2069700;2069704;2069706;2069714;2069716;2069720;2069722;2069726;2069728;2069730;2069732;2069734;2069736;2069738;2069740;2069742;2069744;2069746;2069748;2069750;2109893;2193942;2193946;2193952;2193954;2193956 D7S723;ECD03587;ECD03690;ECD04407;ECD04726;ECD08271;ECD12060;ECD14640;ECD15572;ECD17804;ECD22912;REN106027;REN106039;REN106040;REN106042;REN106043;REN106048;REN106049;REN106051;REN106052;REN106054;REN106055;REN106056;REN106057;REN106058;REN106059;REN106060;REN106061;REN106062;REN106063;REN106064;REN106065;REN106066;RH94098;STEAP_9504;stSG614431;stSG614433;stSG614436;stSG614437;stSG614438 MGC19484;PRSS24 OTTHUMP00000024624;STEAP;metalloreductase STEAP1;six transmembrane epithelial antigen of the prostate;six-transmembrane epithelial antigen of prostate 1 APPROVED protein-coding ENSG00000164647 HGNC:11378 05106 604415 REVIEWED 1604195 STH saitohin FOUND IN cytoplasm (inferred); nucleus (inferred) 17 17 17 q21.1 40723927 40724371 + 44076616 44077060 + 45999250 45999694 + 6480464 12032355;12402275;12447938;12477932;12826737;12826738;12913211;12932819;15136700;15474313;16186110;16603077;16909000;18300012;18307033;18396294;18509094;18850062;20852909;21769920;21934306;22187337;22504418;24429156;7566098 246744 Q8IWL8 ABBA01031196;AC010792;AC091628;AC217779;AC243658;AY179170;BC130319;BC130321;CR936218;NG_007398;NM_001007532 AAI30320;AAI30322;AAO03577;NP_001007533;Q8IWL8 Hs.661831 MGC163191;MGC163193 MAPTIT;OTTHUMP00000239121;microtubule-associated protein tau (MAPT) intronic transcript protein-coding ENSG00000256762 HGNC:18839 06142 607067 VALIDATED 1316015 STEAP2 STEAP family member 2, metalloreductase This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 q21.13 84545103 84571097 + 89841000 89866992 + 90211686 90237678 + 61503;1580863;6480464 10613842 12095985;12429817;12975309;14702039;15623366;15897894;16609065;17567994;19196137;20379614;20587517;21139048;21890473;21906983;23000965 261729 B3KS24;B5MC02;C9JHX5;C9JLP2;Q6YPB2;Q8NFT2 ABBA01045841;AC002064;AF455138;AF526382;AK026813;AK092666;AK094568;AK315043;AMYH02016239;AY008443;AY008444;AY358267;CH236949;CH471091;DQ656061;DQ656062;DR005432;NM_001040665;NM_001040666;NM_001244944;NM_001244945;NM_001244946;NM_152999;XM_006715921;XM_006715922 AAG32147;AAG32148;AAI46342;AAI48825;AAN04080;AAQ08976;AAQ88634;BAG37524;BAG52586;EAL24165;EAW76889;EAW76890;EAW76891;EAW76892;EAW76893;EAW76894;NP_001035755;NP_001035756;NP_001231873;NP_001231874;NP_001231875;NP_694544;Q8NFT2;XP_006715984;XP_006715985 Hs.489051 1799542;1801198;1802964;1803202;1803204;1803516;1804836;1805730;1806634;1810852;1811154;1816762;1818738;1820132;1820488;1824104;1829698;1831516;1831518;1831936;1833070;1833376;1844590;1844766;1845530;1846182;2069774;2070110;2070112;2070114;2070116;2070118;2070120;2070122;2070124;2070126;2070128;2070130;2070132;2070134;2070136;2070138;2070140;2070142;2070144;2070146;2070148;2070150;2070152;2070154;2070156;2070158;2070160;2070162;2070164;2070166;2070168;2070170;2070172;2070174;2070176;2070178;2070180;2070182;2070184;2070186;2070188;2070190;2070192;2070194;2070196;2070198;2070200;2070202;2070204;2070206;2070208;2070210;2070212;2070214;2070216;2070218;2070220;2070222;2070224;2070226;2070228;2070230;2070232;2070234;2070236;2070238;2070240;2070242;2070244;2070246;2070248;2070250;2070252;2070254;2070256;2070258;2070260;2070262;2070264;2070266;2070268;2070270;2070272;2070274;2070276;2070278;2070280;2070282;2070284;2070286;2070288;2070290;2070292;2070294;2070296;2070298;2070300;2070302;2070304;2070306;2070308;2070310;2070312;2070314;2070316;2070318;2070320;2070322;2070324;2070326;2070328;2070330;2070332;2070334;2070336;2070338;2070340;2070342;2070344;2070346;2070348;2070350;2070352;2070354;2070356;2070358;2070360;2070362;2118705;2171324;2194016;2194018;2194020;2194022;2194024;2194026;2194028;2194030;2194032;2194034;2194036;2194038;2194040;2194042;2194044;2194046;2194048;2194050;2194052;5014051;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2278;D8S2279;ECD00623;ECD01471;ECD02372;ECD02493;ECD02494;ECD02659;ECD03353;ECD03815;ECD04274;ECD06424;ECD06575;ECD09426;ECD10433;ECD11140;ECD11319;ECD13148;ECD15981;ECD16895;ECD16896;ECD17106;ECD17677;ECD17831;ECD23509;ECD23598;ECD23983;ECD24311;L18426;REN106078;REN106246;REN106247;REN106248;REN106249;REN106250;REN106251;REN106252;REN106253;REN106254;REN106255;REN106256;REN106257;REN106258;REN106259;REN106260;REN106261;REN106262;REN106263;REN106264;REN106265;REN106266;REN106267;REN106268;REN106269;REN106270;REN106271;REN106272;REN106273;REN106274;REN106275;REN106276;REN106277;REN106278;REN106279;REN106280;REN106281;REN106282;REN106283;REN106284;REN106285;REN106286;REN106287;REN106288;REN106289;REN106290;REN106291;REN106292;REN106293;REN106294;REN106295;REN106296;REN106297;REN106298;REN106299;REN106300;REN106301;REN106302;REN106303;REN106304;REN106305;REN106306;REN106307;REN106308;REN106309;REN106310;REN106311;REN106312;REN106313;REN106314;REN106315;REN106316;REN106317;REN106318;REN106319;REN106320;REN106321;REN106322;REN106323;REN106324;REN106325;REN106326;REN106327;REN106328;REN106329;REN106330;REN106331;REN106332;REN106333;REN106334;REN106335;REN106336;REN106337;REN106338;REN106339;REN106340;REN106341;REN106342;REN106343;REN106344;REN106345;REN106346;REN106347;REN106348;REN106349;REN106350;REN106351;REN106352;REN106353;REN106354;REN106355;REN106356;REN106357;REN106358;REN106359;REN106360;REN106361;REN106362;REN106363;REN106364;REN106365;REN106366;REN106367;REN106368;REN106369;REN106370;REN106371;REN106372;RH79249;SHGC-52882;stSG614471;stSG614472;stSG614473;stSG614474;stSG614475;stSG614476;stSG614477;stSG614478;stSG614479;stSG614480;stSG614481;stSG614482;stSG614483;stSG614485;stSG614486;stSG614487;stSG614488;stSG614489;stSG614490 IPCA1;PCANAP1;PUMPCn;STAMP1;STMP OTTHUMP00000024959;OTTHUMP00000067572;OTTHUMP00000067573;OTTHUMP00000067574;OTTHUMP00000067575;OTTHUMP00000067576;OTTHUMP00000196964;SixTransMembrane Protein of Prostate 1;metalloreductase STEAP2;prostate cancer associated protein 1;prostate cancer-associated protein 1;protein up-regulated in metastatic prostate cancer;protein upregulated in metastatic prostate cancer;six transmembrane epithelial antigen of prostate 2;six transmembrane epithelial antigen of the prostate 2;six-transmembrane epithelial antigen of prostate 2 APPROVED protein-coding ENSG00000157214 HGNC:17885 05481 605094 REVIEWED 1312198 STIM2 stromal interaction molecule 2 This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulate calcium concentrations in the cytosol and endoplasmic reticulum, and is involved in the activation of plasma membrane Orai Ca(2+) entry channels. This gene initiates translation from a non-AUG (UUG) start site. A signal peptide is cleaved from the resulting protein. Multiple transcript variants result from alternative splicing. [provided by RefSeq, Dec 2009] 4 4 4 p15.2 27312306 27476220 + 26859329 27027003 + 26860691 27025381 + 1580863;6480464;7204692;8554872 22914293 10819331;11230166;1146333;11463338;12477932;14702039;15231748;15489334;15840729;16005298;16860747;17905723;18160041;18166150;18484746;19019825;19111578;19433064;19487696;198439;19843959;20172609;20379614;20436167;20562859;21217057;21321120;21383014;21829377;21906591;21906983;22125164;22477146;22592407;23251661;23359669;24044355;24250222;8889548 57620 A6H8L7;B3KUB5;H0Y860;H7C5A5;H7C5C6;H7C5K2;Q9P246;R4GMP0;R4GN82;R4GNC5 AB040915;ABBA01032732;ABBA01032733;AC006928;AC106047;AF328905;AK023369;AK096846;AL136577;AMYH02008930;AMYH02008931;AMYH02008932;AMYH02008933;AMYH02008934;AMYH02008935;BC015659;BC043604;BC057231;BC136449;BC146661;BC152554;BC171766;BU741823;BX343313;CH471069;NM_001169117;NM_001169118;NM_020860 AAH15659;AAH43604;AAH57231;AAI36450;AAI46662;AAI52555;AAI71766;AAK82337;BAA96006;BAB14545;BAG53377;CAB66512;EAW92853;EAW92854;EAW92855;NP_001162588;NP_001162589;NP_065911;Q9P246 Hs.744950 1644766;1715141;1784988;1847689;2106655;2119762;2156214;2172174;2174787 D4S2857;RH119523;SHGC-112388;SHGC-36198;SHGC-59200;SHGC-59758;SHGC-60033;STIM2__5338;STS-T97323 FLJ39527;KIAA1482 OTTHUMP00000123457;OTTHUMP00000123458;OTTHUMP00000216198 APPROVED protein-coding ENSG00000109689 HGNC:19205 11609 610841 REVIEWED 5132364 STEAP1B STEAP family member 1B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH dasatinib (anhydrous); trichostatin A; valproic acid 7 7 7 p15.3 22444590 22525251 - 22459063 22539901 - 22419444 22500282 - 6480464;8554872 12477932;21546767 256227 C9JE84;C9JL51;Q6NZ63 ABBA01056690;AC002480;AC005061;AC099759;AK308991;AMYH02015349;BC066301;CH236948;NM_001164460;NM_207342 AAH66301;EAL24267;EAL24268;NP_001157932;NP_997225;Q6NZ63 Hs.729825 1652032;1805282;1805484;1806884;1812754;1819590;1827050;1828890;1843406;2069672;2069676;2069678;2069680;2069682;2069684;2069686;2069688;2069690;2069692;2069694;2069696;2069702;2069708;2069710;2069712;2069718;2069720;2069724;2069728;2069912;2069914;2069916;2069918;2069920;2069922;2069928;2069930;2169014;2193944;2193948;2193950;2193984;2193986 D7S1975;D7S723;ECD03587;ECD03690;ECD04407;ECD07388;ECD10862;ECD14640;ECD15572;ECD22912;REN106026;REN106028;REN106029;REN106030;REN106031;REN106032;REN106033;REN106034;REN106035;REN106036;REN106037;REN106038;REN106041;REN106045;REN106046;REN106047;REN106050;REN106051;REN106053;REN106055;REN106147;REN106148;REN106149;REN106150;REN106151;REN106152;REN106155;REN106156;stSG614432;stSG614434;stSG614435;stSG614452;stSG614453 MGC87042 OTTHUMP00000201887;OTTHUMP00000201888;OTTHUMP00000201967;STEAP family protein MGC87042 protein-coding ENSG00000105889 HGNC:41907 VALIDATED 737517 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 37120227 37194843 - 40465342 40540586 - 42313324 42388568 - 1625125;1600611;1625126;1580863;1357935;2291910;1643476;2291916;2291917;2291915;2291931;2291921;2291908;2291911;2291913;2298536;2298538;2298537;2291912;2291914;5686834;5686839;2311043;6480464;5688379;6892915;6483030;6892956;6483020;6483041;6892961;6892936;6483027;6892706;6892914;6892715;6892720;6892945;6483034;6892946;6484113;6483021;6483023;6483028;6907045;7240710;8694356;8694295;8694331;8554872;8694293;8694326;8694303;8694309;8694296;8694289;8694290;8694291;8694292;8699517;8694286;8694314;8694328;8694299;8694300;8694304;8694305;8694311;8694329;7495791;8694302;8694294;8694312;8694319;8694287;8694332;8699499;8694318;8694288;8694321;8694306;8694308;8694297;8694307;8694310 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6774 G8JLH9;K7EP08;P40763 AB451232;ABBA01006426;ABBA01006427;ABBA01006428;AC087691;AC107993;AF029311;AF332508;AI631896;AJ012463;AK024535;AK092965;AK291933;AK297994;AK301200;AK316139;AMYH02033428;AMYH02033429;AY572796;BC000627;BC008044;BC014482;BC029783;BC067119;BC107775;BI461226;CB216860;CB321646;CF454565;CH471152;HI961665;JA362592;L29277;NG_007370;NM_003150;NM_139276;NM_213662;XM_005257616;XM_005257617;XM_005257618 AAA58374;AAB84254;AAH00627;AAH14482;AAK17196;AAS66986;ABZ92186;ACE86450;ACE87126;BAF84622;BAG60302;BAG62778;BAG70046;BAH14510;CAA10032;CAL37986;CBY84972;CCA94578;EAW60820;EAW60821;EAW60822;EAW60823;EAW60824;EAW60825;EAW60826;EAW60827;NP_003141;NP_644805;NP_998827;P40763;XP_005257673;XP_005257674;XP_005257675 Hs.463059 1334593;1681141;1698240;1734526;1737897;1793866;1794544;1796886;2155051;2159889;2189553;5015861;5015879;5015961;5020740;5022463;5022578;5022588;5037552;7185938;7187807 A008U14;D10S16;D11S3502;D15S1477;D17S1460E;D1S1423;D3S1673;D4S428;D5S1597E;D8S2279;GDB:314949;L17809;PMC303343P1;PMC317074P1;RH102656;RH36906;STAT3_852;STS-W49595;UniSTS:236743 ADMIO;APRF;FLJ20882;HIES;MGC16063 DNA-binding protein APRF;OTTHUMP00000198123;OTTHUMP00000198128;acute-phase response factor;signal transducer and activator of transcription 3 APPROVED protein-coding ENSG00000168610 HGNC:11364 00026 102582;147060;615952 REVIEWED 7820252 STIP1P2 stress-induced phosphoprotein 1 pseudogene 2 2 2 2 221969411 221970848 + 228200272 228201709 + 227335556 227336993 + 100420436 ABBA01050185;AC097662;AMYH02005919;NG_023766;NG_033153 pseudo HGNC:49553 INFERRED 733337 STIP1 stress-induced phosphoprotein 1 STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009] 11 11 11 q13 61280290 61298770 + 63952206 63972020 + 64185272 64204548 + 1580863;2326084;4892102;5144125;6480464;6907045 16356826;16610357;18451092 10508479;10567422;10786835;10811660;11093761;11809754;11877417;12093732;12161444;12437126;12477932;1286667;12887926;14532270;14754904;15489334;15592455;15632128;15647277;1569099;16100115;16130169;16236267;16344560;16916647;17081983;17353931;17500595;17569659;17886292;18095154;18485364;18976975;19135240;19254810;19471022;19615732;19738201;19866486;19875381;19961430;20029029;20159553;20501939;20704274;21044950;21067243;21139048;21170051;21235734;21360678;21470770;21784300;21832049;21850170;21875754;21890473;21903422;21906983;21963094;21988832;22053931;22079093;22174317;22304920;22315411;22360420;22505724;22558459;22623428;22729780;22824801;22863883;22884369;22939629;23000965;23166591;23349634;23431407;23438482;23482560;23602568;23836498;23915849;24163084;24488757;24535459;24583282;24816145;25036637;8125298;8889548;9148915;9261129;9452498;9727490;9774640 10963 F5GXD8;F5H783;H0YGI8;P31948;V9HW72 ABBA01003287;ABBA01003288;AK225736;AK291555;AK297319;AMYH02024931;AP005668;BC002987;BC039299;BM679538;BT020010;BT020011;CH471076;CR536512;DA123899;DA781468;FJ224350;M86752;NM_001282652;NM_001282653;NM_006819 AAA58682;AAH02987;AAH39299;AAV38813;AAV38814;ABM84221;ABW03547;ACI46042;BAF84244;BAG59782;CAG38750;EAW74196;EAW74197;EAW74198;NP_001269581;NP_001269582;NP_006810;P31948 Hs.337295 1773364;2106657;2146375 D11S4364;RH11478;STIP1__5339 HEL-S-94n;HOP;IEF-SSP-3521;P60;STI1;STI1L Hsp70/Hsp90-organizing protein;NY-REN-11 antigen;OTTHUMP00000236867;OTTHUMP00000236868;OTTHUMP00000237237;epididymis secretory sperm binding protein Li 94n;hsc70/Hsp90-organizing protein;renal carcinoma antigen NY-REN-11;stress-induced-phosphoprotein 1;transformation-sensitive protein IEF SSP 3521 APPROVED protein-coding ENSG00000168439 HGNC:11387 05454 605063 VALIDATED 7824364 STIP1P3 stress-induced phosphoprotein 1 pseudogene 3 X X X q21.2 85579117 85581000 - 85339319 85341402 - 86084296 86086398 - 441505 ABBA01051745;ABBA01051746;AL035451;AMYH02039899;NG_022615 pseudo HGNC:49554 INFERRED 733000 STK10 serine/threonine kinase 10 This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 167501519 167647757 - 171469074 171615346 - 172042070 172188342 - 1580863;6480464 10199912;10692593;11903060;12477932;12639966;14702039;15302935;16175573;16344560;16964243;17192257;18239682;19255442;20306291;20379614;21905501;21906983;23000965;23209304;23463506;23793025;23842845;9278426 6793 H0YB71;O94804 AB015718;ABBA01044054;ABBA01044055;ABBA01044056;ABBA01044057;ABBA01044058;ABBA01044059;ABBA01044060;ABBA01044061;AC024561;AC092271;AC113342;AF119894;AI584023;AK022960;AK092814;AK307943;AK313350;AL133081;AMYH02012742;AMYH02012743;AMYH02012744;AMYH02012745;AMYH02012746;BC014413;BC070077;BI459912;CH471062;DA507768;DB068209;NM_005990 AAF69648;AAH70077;BAA35073;BAG36152;BAG51143;CAB61400;EAW61439;NP_005981;O94804 Hs.744005 1338393;1340082;1656218;1722845;1732631;1758989;1776989;1780742;1785628;2138314;2167983;2176320;5017697 D5S1383;D5S1960;D5S425;D5S604;G60365;L28383;RH48725;RH79031;SHGC-150661;SHGC-156055;STK10;STS-W58187;bac51876S LOK;PRO2729 OTTHUMP00000223448;lymphocyte-oriented kinase;serine/threonine-protein kinase 10 APPROVED protein-coding ENSG00000072786 HGNC:11388 06796 603919 REVIEWED 1312720 STIL SCL/TAL1 interrupting locus This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p32 46002077 46066092 - 47715811 47779819 - 47250139 47314147 - 1580863;6480464;6484113;7240710;8554872;8699517 10657125;11390401;12199779;12438740;12477932;12531481;12681356;1311214;14504110;15107824;15489334;16024801;16344560;16710414;17456584;17460775;17576815;18187418;18829525;19215732;1922059;20301772;20379614;2040693;21139048;21906983;21963094;22020124;2209547;22100914;22349698;22349705;22505724;2255914;22989186;24240054;24485834;24853807;8321044;8825637;9372240 6491 B7ZLW5;E9PSF2;H0Y702;Q15468;Q5T0C7;Q5T0C8;Q7Z626 AA897748;ABBA01050825;ABBA01050826;ABBA01050827;AF349657;AJ131016;AK098445;AK128406;AK307519;AL135960;AL513322;AMYH02000969;AMYH02000970;AMYH02000971;BC053615;BC126223;BC136432;BC144089;CH471059;CR749851;DA754072;DB062060;DB062487;M74558;NG_012126;NM_001048166;NM_001282936;NM_001282937;NM_001282938;NM_001282939;NM_003035;XM_006710834;XM_006710835;Y07540 AAA60550;AAH53615;AAI26224;AAI44090;AAK51418;ADR83293;CAH18699;CAI19730;CAI19731;CAI19732;CAI19733;EAX06872;EAX06873;EAX06874;NP_001041631;NP_001269865;NP_001269866;NP_001269867;NP_001269868;NP_003026;Q15468;XP_006710897;XP_006710898 Hs.525198 2106615;2123925;2157177;2169053;5022322 D11S2560;G34885;RH69175;SHGC-35335;SIL__5416 DKFZp686O09161;MCPH7;SIL OTTHUMP00000009566;OTTHUMP00000009567;OTTHUMP00000009569;OTTHUMP00000231597;SCL-interrupting locus protein;TAL-1-interrupting locus protein APPROVED protein-coding ENSG00000123473 HGNC:10879 01627 181590;612703 REVIEWED 1315668 STIM1 stromal interaction molecule 1 This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 11 11 11 p15.5 3882103 4119396 + 3876933 4114440 + 3855703 4093210 + 1580863;6480464;7240710;7204692;8554872;8699517 22914293 10575208;11004585;11463338;11983428;12477932;12754519;14582397;14702039;15866891;16005298;16208375;16263699;16537481;16733527;16766533;16807233;16860747;16870612;16906149;16966422;16987424;17020874;17045966;17081983;17158173;17218358;17224452;17283081;17298947;17299780;17360414;17486119;17517596;17684017;17702753;17905723;17925382;18029348;18166150;18187424;18190941;18249114;18250319;18326500;18337467;18403424;18420269;18430726;18448669;18484746;18506892;18542992;18569867;18635545;18644792;18768920;18778263;18802022;18832420;18843204;18845811;18854159;18995841;19019825;19052075;19088073;19107116;19111578;19171672;19182790;19185847;19189966;19249086;19260825;19272522;19287379;19307462;19327826;19332491;19403622;19420366;19429662;19433061;19433064;19447651;19487696;19506081;19622747;19626660;19631699;19632184;19694801;19706554;19754898;19765994;19843011;19881501;19897728;19906989;20073506;20194530;20375143;20436167;20534587;20562859;20587595;20629634;20679432;20736304;20808796;20876309;20926378;20929812;20976103;21081754;21126331;21193399;21217057;21220420;21220431;21239714;21255618;21321120;21427704;21432868;21499266;21540881;21640715;21724845;21788372;21790973;21876174;21880734;21906591;21906983;21956116;22031597;22110130;22246182;22260675;22278058;22298778;22381755;22384096;22387225;22438918;22451904;22498042;22549787;22586105;225862;22592407;22748319;22842488;22904194;22939629;22984609;22992728;23022228;23041196;23043102;23049826;23068106;23076152;23108404;23184982;23203806;23203809;23212906;23261659;23272049;23277085;23289723;23320111;23332920;23348743;23378028;23395841;23397206;23447534;23458835;23512987;23512989;23515871;23572507;23578185;23613525;23625915;23668188;23687376;23690558;23698468;23700407;23713409;23714431;23798062;23800047;23816623;23871111;23943619;23994313;24044355;24109210;24114840;24308967;24351972;24463606;24464579;24583265;24591628;24654937;24681268;24755083;24811382;24816145;8707854;8921403;9377559 6786 E9PIQ8;E9PJ19;E9PMB4;E9PN27;E9PNJ4;E9PR07;E9PR09;E9PRE4;E9PRZ7;G0XQ39;H0YDB2;Q13586 ABBA01032040;ABBA01032041;ABBA01032042;ABBA01032043;ABBA01032044;ABBA01032045;ABBA01032046;ABBA01032047;AC015689;AC087441;AC090804;AC107970;AK057599;AK098480;AK310510;AK314928;AMYH02024233;AMYH02024234;AMYH02024235;AMYH02024236;BC019905;BC021300;BI820627;BM127091;CH471158;CQ834768;CX873095;HQ317451;JX014264;KF455308;KF455311;NG_016277;NM_001277961;NM_001277962;NM_003156;U52426 AAC51627;AAH21300;ABM86435;ABW03792;ADO20317;AFZ76986;CAH05599;EAX02580;EAX02581;NP_001264890;NP_001264891;NP_003147;Q13586 Hs.501735;Hs.657794 1654541;1662831;1666084;1667505;1667606;1721783;1731533;1736838;1737601;1738171;1756363;1980820;2039584;2108531;2119309;2131785;5037552 D11S1044;D11S1251;D11S2347;D11S3193;D11S3801;D11S4403;D8S2279;G09873;G59762;REN61305;REN90816;RH35854;RH36268;RH37425;RH48059;SHGC-143338;STIM1_8654 D11S4896E;GOK;IMD10;STIM1L;STRMK;TAM;TAM1 OTTHUMP00000164512;OTTHUMP00000229140;OTTHUMP00000230742 APPROVED protein-coding ENSG00000167323 HGNC:11386 05803 185070;605921;612783 REVIEWED 7815334 STIP1P1 stress-induced phosphoprotein 1 pseudogene 1 2 2 2 137385558 137387420 + 143673138 143675000 + 142915569 142917431 + 100420434 ABBA01028077;AC013444;AMYH02004911;NG_023736 pseudo HGNC:49552 INFERRED 1346790 STK16P1 serine/threonine kinase 16 pseudogene 1 14 14 14 q21.3 30003046 30004889 + 50143386 50145229 + 49676668 49678511 + 326107 ABBA01018114;AL591767;AMYH02029150;NG_002530 1656335;1687982 RH98671;SHGC-53864 STK16P APPROVED pseudo HGNC:19283 INFERRED 1342506 STK16 serine/threonine kinase 16 ENCODES a protein that exhibits ATP binding (inferred); non-membrane spanning protein tyrosine kinase activity (inferred); protein kinase activity (inferred); INVOLVED IN protein autophosphorylation; FOUND IN Golgi-associated vesicle (inferred); membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amiodarone; arsenous acid 2 2 2 q35 213879899 213884766 + 220110192 220115059 + 219245470 219250337 + 1580863;6480464 10364453;10947953;11741987;12477932;14702039;15146197;15489334;16189514;16310770;16344560;16712791;17353931;18184589;19060904;19953087;21890473;21900206;23824909;8125298;9712705 8576 B4DPS1;B8ZZI5;B8ZZN3;O75716 AA741170;AB020739;ABBA01023845;AC068946;AF060798;AF203910;AJ005791;AJ010872;AK096954;AK225392;AK225526;AK292694;AK298471;AK302182;AK310793;AL552406;AL565684;AMYH02005820;BC002618;BC007381;BC019915;BC053998;BT019585;CB111662;CH471063;CN268850;CN268939;CR407675;DB190729;NM_001008910;NR_026909 AAC28337;AAG23728;AAH02618;AAH53998;AAV38392;ACE86734;ACE87420;BAB16311;BAF85383;BAG60683;BAG63548;CAA06700;CAA09387;CAG28603;EAW70714;EAW70715;EAW70716;EAW70717;NP_001008910;O75716 Hs.153003 1656335;1686504 RH92661;SHGC-53864 FLJ39635;KRCT;MGC16211;MPSK;PKL12;TSF-1;TSF1;hPSK OTTHUMP00000205887;OTTHUMP00000205888;OTTHUMP00000205889;OTTHUMP00000205890;OTTHUMP00000205891;TGF-beta-stimulated factor 1;myristoylated and palmitoylated serine/threonine-protein kinase;protein kinase PKL12;protein kinase expressed in day 12 fetal liver;serine/threonine-protein kinase 16;tyrosine-protein kinase STK16 protein-coding ENSG00000115661 HGNC:11394 05281 604719 VALIDATED 1312841 STK11IP serine/threonine kinase 11 interacting protein ENCODES a protein that exhibits protein kinase binding; INVOLVED IN protein localization; FOUND IN cytoplasm; intracellular membrane-bounded organelle; lysosomal membrane; INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; methyl methanesulfonate 2 2 2 q35 214232566 214251145 + 220462593 220481173 + 219597871 219616451 + 6480464 11572484;11741830;12477932;14702039;17521700;17897319;18029348;20974850;21139048;21890473;21903422;21988832;23000965 114790 C9JQV3;E7ERV2;H7C236;H7C2J7;M0QYE5;Q8N1F8 AB067485;ABBA01023838;ABBA01023839;AC009955;AF450267;AK091963;AK295609;AK296632;AK299894;AK300611;AMYH02005825;AMYH02005826;AMYH02005827;BC014114;BC034051;CH471063;NM_052902;XM_006712227;XR_427063 AAH14114;AAH34051;AAL49726;ABM81846;ABM84997;BAB67791;BAG58494;BAG59234;BAG61738;BAG62306;EAW70775;EAW70776;NP_443134;Q8N1F8;XP_006712290 Hs.22410 1698876;1798506;1799562;1801418;1802100;1803950;1809002;1809816;1810162;1816264;1816432;1818550;1820452;1822948;1823384;1824298;1825102;1835078;1841956;1843446;1965272;1965274;1965276;1965278;1965280;1965282;1965284;1965286;1965288;1965290;1965292;1965294;1965296;1965298;1965300;1965302;1965304;1965306;1965308;1965310;1965312;1965314;1965316;1965318;1965320;1965322;1965324;1965326;1965328;1965330;1965332;1965334;1965336;1965338;1965340;1965342;1965344;1965346;1965348;1965350;1965352;1965354;1965356;1965358;1965360;1965362;1965364;1965366;1965368;1965370;1965372;1965374;1965376;1965378;1965380;1965382;1965384;1965386;1965388;1965390;1965392;1965394;1965396;1965398;1965400;1965402;1965404;1965406;1965408;1965410;1965412;1965414;1965416;1965418;1965420;1965422;1965424;1965426;1965428;1965430;1965432;1965434;1965436;1965438;1965440;1965442;2214108;2214110;2214112;2214114;2214116;2214118;2214120;2214122;2214124;2214126;2214128;2214130;2214132;2214134;2214136 ECD00091;ECD00633;ECD01583;ECD01932;ECD02889;ECD05484;ECD05900;ECD06073;ECD09174;ECD09258;ECD10337;ECD11301;ECD12562;ECD12782;ECD13247;ECD13652;ECD18692;ECD22181;ECD22932;REN53510;REN53511;REN53512;REN53513;REN53514;REN53515;REN53516;REN53517;REN53518;REN53519;REN53520;REN53521;REN53522;REN53523;REN53524;REN53525;REN53526;REN53527;REN53528;REN53529;REN53530;REN53531;REN53532;REN53533;REN53534;REN53535;REN53536;REN53537;REN53538;REN53539;REN53540;REN53541;REN53542;REN53543;REN53544;REN53545;REN53546;REN53547;REN53548;REN53549;REN53550;REN53551;REN53552;REN53553;REN53554;REN53555;REN53556;REN53557;REN53558;REN53559;REN53560;REN53561;REN53562;REN53563;REN53564;REN53565;REN53566;REN53567;REN53568;REN53569;REN53570;REN53571;REN53572;REN53573;REN53574;REN53575;REN53576;REN53577;REN53578;REN53579;REN53580;REN53581;REN53583;REN53584;REN53585;REN53586;REN53587;REN53588;REN53589;REN53590;REN53591;REN53592;REN53593;REN53594;REN53595;REN53596;RH103005;stSG633114;stSG633115;stSG633116;stSG633117;stSG633118;stSG633119;stSG633120;stSG633121;stSG633122;stSG633123;stSG633124;stSG633125;stSG633126;stSG633128;stSG633129 KIAA1898;LIP1;LKB1IP;STK11IP1 LKB1 interacting protein;LKB1-interacting protein 1;OTTHUMP00000065428;STK11 interacting protein;serine/threonine kinase 11-interacting protein;serine/threonine-protein kinase 11-interacting protein protein-coding ENSG00000144589 HGNC:19184 06207 607172 VALIDATED 732463 STK17B serine/threonine kinase 17b ENCODES a protein that exhibits ATP binding; protein serine/threonine kinase activity; protein kinase activity (ortholog); INVOLVED IN intracellular signal transduction; positive regulation of fibroblast apoptotic process; protein phosphorylation; FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; 8-bromo-3',5'-cyclic AMP 2 2 2 q32.3 190754094 190792103 - 196998307 197036336 - 196133583 196171612 - 1580863;6480464 11481038;12477932;15489334;17182616;19542440;19638987;19730683;20379614;21148796;21832049;21963094;21988832;22505724;23122956;23398943;24086368;9786912 9262 C9JZJ1;O94768;Q53QE7;U3KQF8 AB011421;ABBA01062452;AC114760;AK312865;AMYH02005503;AMYH02005504;BC016040;BC052561;BM994696;CH471063;CR542210;CR542225;HA637634;HH961858;NM_004226 AAH16040;AAY14982;ABM83182;ABM86384;BAA34127;BAG35717;CAG47006;CAG47021;CAZ39539;CBX51402;EAW70122;NP_004217;O94768 Hs.88297 2108533;2125749;2144063;2165945;5015619;5015959;5022651;5024039;5037552;5037554 D10S2448;D11S2921;D11S3114;D16S325;D8S2279;D8S2282;RH16437;RH65509;SGC34048;STK17B_8918 DRAK2 DAP kinase-related apoptosis-inducing protein kinase 2;OTTHUMP00000163614;OTTHUMP00000205666;death-associated protein kinase-related 2;serine/threonine kinase 17b (apoptosis-inducing);serine/threonine-protein kinase 17B protein-coding ENSG00000081320 HGNC:11396 05289 604727 VALIDATED 1352725 STK19B serine/threonine kinase 19B, pseudogene 6 6 p21.33 31981167 31981961 + 32013390 32014184 + 1988494;2431902;8132574 373159 AL645922;AMYH02013460;BX679671;CR753845;CR936924;L26262;NG_029245 2106659 STK19__5340 RP2;STK19P;bPG116M5.10 APPROVED pseudo HGNC:21668 INFERRED 6481273 STK24-AS1 STK24 antisense RNA 1 q32.2 11991713 100874069 AF339799;AL356423 Hs.594160 APPROVED ncrna HGNC:39935 8553167 STK24P1 serine/threonine kinase 24 pseudogene 1 X X X 135740502 135741741 - 135377852 135379091 - 136295693 136296932 - 100421784 ABBA01055885;ABBA01055886;AL078638;AMYH02040578;NG_026770 pseudo HGNC:50360 INFERRED 1345827 STK24 serine/threonine kinase 24 This gene encodes a serine/threonine protein kinase that functions upstream of mitogen-activated protein kinase (MAPK) signaling. The encoded protein is cleaved into two chains by caspases; the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death. There is a pseudogene for this gene on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] 13 13 13 q31.2-q32.3 79949846 80077659 - 99102455 99229396 - 98450199 98577151 - 1580863;6480464;8554872 10644707;11991713;12107159;12477932;15304321;15489334;15917084;16189514;16314523;16344560;17046825;17081983;17081986;17353931;18040775;18654987;18782753;19056867;19240061;19322201;19328558;19604147;19782762;19855390;19953087;20124694;20174665;20379614;20834067;20949042;21277991;21890473;21985334;22159054;22229648;22493453;22505724;22863883;22939629;23000965;23296203;23455922;23722424;23889253;24255178;24816145;9353338 8428 B4DR80;H0Y630;Q5JV98;Q5JV99;Q5U0E6;Q6P0Y1;Q9Y6E0 ABBA01027139;ABBA01027140;ABBA01027141;ABBA01027142;AF024636;AF083420;AF339826;AK297583;AK299140;AL137249;AL356423;AMYH02028574;BC035578;BC065378;BT019619;CB996892;CH471085;CR542227;DA386652;DA395717;DB479387;EU668350;NM_001032296;NM_001286649;NM_003576;XM_005254078;XM_005254079 AAB82560;AAD42039;AAH35578;AAH65378;AAV38425;ABM81838;ACF94503;BAG59972;BAG61192;CAG47023;EAX08985;EAX08986;EAX08987;NP_001027467;NP_001273578;NP_003567;Q9Y6E0;XP_005254135;XP_005254136 Hs.508514 1738425;1775397;2124317;2125273;2152042;2166448;2171095;2180546;2181163 D13S1172;D13S678E;RH44984;RH45044;RH48394;RH48488;RH65146;RH65722;WI-12444 HEL-S-95;MST-3;MST3;MST3B;STE20;STK3 OTTHUMP00000018592;OTTHUMP00000018593;OTTHUMP00000018594;STE20-like kinase 3;STE20-like kinase MST3;epididymis secretory protein Li 95;mammalian STE20-like protein kinase 3;serine/threonine kinase 24 (STE20 homolog, yeast);serine/threonine-protein kinase 24;sterile 20-like kinase 3 APPROVED protein-coding ENSG00000102572 HGNC:11403 10385 604984 REVIEWED 9586339 STK25P1 serine/threonine kinase 25 pseudogene 1 18 18 12911216 12912263 + 12911217 12912264 + 100533662 ABBA01074032;AMYH02034341;AP002449;NG_028709 pseudo HGNC:50361 INFERRED 1318548 STK11 serine/threonine kinase 11 This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1140029 1162667 + 1205798 1228434 + 1205799 1228435 + 1580863;1600678;1600691;1601389;2291943;2291945;2291947;2291944;2291948;2298556;1601391;6480464;6907045;7240710;8554872;8699517 10429654;12114407;12533684;14511394;15509864;16352671;16785781;17098823;18245476;18381428 10208439;10362809;10408777;10508479;10642499;10642527;11297520;11430832;11445556;11668633;11733352;11741830;11853558;12097271;12218179;12234250;12477932;12489981;12552571;12595760;12753905;12805220;12847291;12879020;12912948;14511408;14517247;14517248;14668798;14676191;14702039;14976552;14985505;15077168;15121768;15183188;15188174;15231735;15287029;15292028;15331174;15485651;15489334;15561763;15607222;15608654;15617552;15731909;15733851;15774015;15800014;15987703;16054041;16169070;16287113;16311241;16396636;16407220;16407837;16540748;16580634;16582077;16648371;16822578;16882735;16912160;16927138;16953221;17010524;17026623;17108107;17114342;17212587;17216128;17234589;17244606;17319781;17344591;17384680;17573348;17575127;17599048;17637250;17641416;17676035;17711506;17766436;17884763;17921699;17928927;17950019;18000088;18029348;18199157;18245474;18256292;18303014;18311138;18321849;18403917;18483235;18495044;18594528;18600394;18676680;18681789;18687677;18794113;18854309;18854318;19029933;19056867;19068194;19145097;19165201;19170196;19177591;19204826;19229701;19250387;19287990;19340305;19351817;19369417;19386264;19407487;19414597;19463221;19507030;19513107;19520843;19584313;19615099;19615732;19622832;19625176;19692168;19724060;19727776;19892943;19908348;20010869;20018878;20020146;20057966;20082862;20193846;20207041;20227367;20301443;20354225;20357370;20368287;20368693;20400510;20418665;20423848;20424326;20428811;20435009;20452353;20489196;20497868;20559149;20562859;20623358;20668229;20682687;20686846;20722467;20818976;20864035;20881644;20939895;20956321;20974850;21048031;21102257;21118512;21150337;21191146;21191700;21192934;21241696;21396365;21450399;21532627;21572398;21706049;21816872;21832049;21860411;21876548;21994947;22005930;22118009;22168747;22226967;22265968;22270359;22384927;22412893;22457270;22460425;22487816;22543132;22575644;22635025;22775437;22814264;22848740;22928647;22939624;22942091;22983157;22986809;22988252;23027127;23044421;23074285;23086944;23207623;23322200;23367447;23393134;23399955;23415580;23430953;23451056;23526220;23572524;23584481;23592276;23612973;23637231;23645358;23648482;23664447;23679304;23706335;23788249;23810581;23861764;23878245;23892522;23995788;24022664;24037887;24074562;24086281;24146957;24154639;24170201;24285539;24324551;24362629;24387336;24419424;24468202;24469340;24550282;24604241;24615515;24792998;24928005;25011082;8889548;8988175;9425897;9428765;9537235;9760200;9837816 6794 K7EMR0;K7EP59;K7EQN8;Q15831 AB209553;ABBA01002630;ABBA01002631;AC004221;AC011544;AF032986;AF035625;AF055327;AF217978;AJ844634;AK128518;AK314858;AMYH02035142;BC007981;BC019334;BM993274;BQ222023;BU174122;BU739451;CH471139;EF644172;NG_007460;NM_000455;U63333;XM_005259617;XM_005259618 AAB05809;AAB97833;AAC15742;AAC39527;AAF97257;AAG17221;AAH07981;AAH19334;ABM84158;ABM87560;ABR45718;BAD92790;BAG37374;CAH59749;EAW69538;EAW69539;EAW69540;NP_000446;Q15831;XP_005259674;XP_005259675 Hs.515005 1701472;1791117 REU1905;RH104368 LKB1;PJS;hLKB1 liver kinase B1;polarization-related protein LKB1;renal carcinoma antigen NY-REN-19;serine/threonine kinase 11 (peutz-jeghers syndrome);serine/threonine-protein kinase 11;serine/threonine-protein kinase LKB1;serine/threonine-protein kinase STK11 APPROVED protein-coding ENSG00000118046 HGNC:11389 03740 175200;260350;273300;602216 REVIEWED 1342550 STK17A serine/threonine kinase 17a This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq, Jul 2008] 7 7 7 p13 43612574 43656854 + 43622692 43666978 + 43583093 43627379 + 1580863;6480464;8554872 12477932;12690205;12853948;14702039;15489334;19730683;20677014;21489989;21906983;21963094;23860322;24816145;9786912 9263 Q9NZ11;Q9UEE5 AB011420;ABBA01058186;ABBA01058187;ABBA01058188;AC005189;AC011738;AC093645;AK097170;AMYH02015609;AMYH02015610;AW183478;BC023508;BC047696;BI461892;CH236951;CH471073;NM_004760 AAH23508;AAH47696;AAP22356;AAS02010;BAA34126;BAG53430;EAL24008;EAW94162;EAW94163;EAW94164;NP_004751;Q9UEE5 Hs.709489 1647256;1675525;1685205;1767080;1856995;2170095;2171034;2185556 D7S2881;RH16267;RH93621;RH98239;SHGC-33787;STS-R46116;STS-R55042;STS-T95619 DRAK1 DAP kinase-related apoptosis-inducing protein kinase 1;OTTHUMP00000159176;death-associated protein kinase-related 1;serine/threonine kinase 17a (apoptosis-inducing);serine/threonine-protein kinase 17A APPROVED protein-coding ENSG00000164543 HGNC:11395 05288 604726 REVIEWED 1342524 STK25 serine/threonine kinase 25 This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] 2 2 2 q37.3 236104013 236117625 - 242434122 242449145 - 241494707 241509572 - 1302435;729618;1580863;6480464 8887545;9160885 12477932;14702039;15037601;15489334;15815621;16189514;16344560;17253963;17353931;17657516;18364353;18782753;19615732;19953087;20098747;20360068;20592472;20949042;21139048;21396913;21832049;21900206;21906983;22391949;22505724;22652780;22782892;22939629;23000965;23455922;23535732;23889253;24250222;8889548 10494 B3KRS6;B4DMA5;B4DVS7;B4DZ52;B4E185;C9J232;C9J6L2;C9J8E8;C9JCC0;C9JDH9;C9JFA1;C9JIH8;C9JJV0;C9JN58;C9K0M6;E7EM58;H7C279;O00506;Q96BA2 ABBA01006048;AC110299;AK092161;AK125895;AK291808;AK291947;AK297374;AK301214;AK302751;AK303719;AK315966;AMYH02006114;BC007852;BC015793;BC091505;BT019961;BU541010;CB250694;CH471063;CR936874;D63780;DA624380;DC353271;DQ093965;HY052981;HY315908;NM_001271977;NM_001271978;NM_001271979;NM_001271980;NM_001282305;NM_001282306;NM_001282307;NM_001282308;NM_006374;X99325;XM_006712197;XM_006712198 AAH07852;AAH15793;AAH91505;AAV38764;AAY14683;AAY88740;ABM84156;ABM87558;BAA20420;BAF84497;BAF84636;BAG52488;BAG59817;BAG62789;BAG63964;BAG64697;BAH14337;CAA67700;CAI59786;EAW71265;EAW71266;NP_001258906;NP_001258907;NP_001258908;NP_001258909;NP_001269234;NP_001269235;NP_001269236;NP_001269237;NP_006365;O00506;XP_006712260;XP_006712261 Hs.516807 1664097;1672072;2108947;2129940;5015961;7185938 D10S16;D15S1477;RH47049;STK25_9122;WI-15981;WI-19287 DKFZp686J1430;SOK-1;SOK1;YSK1 OTTHUMP00000164603;OTTHUMP00000200202;OTTHUMP00000200203;OTTHUMP00000200204;OTTHUMP00000200205;Ste20, yeast homolog;serine/threonine kinase 25 (STE20 homolog, yeast);serine/threonine kinase 25 (Ste20, yeast homolog);serine/threonine-protein kinase 25;ste20-like kinase;ste20/oxidant stress response kinase 1;sterile 20 (oxidant stress response kinase 1);sterile 20/oxidant stress-response kinase 1;yeast Sps1/Ste20-related kinase 1 APPROVED protein-coding ENSG00000115694 HGNC:11404 03770 602255 REVIEWED 1347475 STK19 serine/threonine kinase 19 This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33538714 33548985 + 31938952 31949223 + 31971175 31981446 + 1580863;6480464;8554872 12477932;14574404;14656967;14667819;15986447;19423540;19851445;1988494;19913121;20205591;20406964;20438785;20628086;21139048;23263863;23577725;8012361;8132574;8575831;9799600;9812991 8859 B7ZLI8;C9J6S8;H0YAS4;P49842 ABBA01038100;ABBA01038101;AF019413;AK302111;AK303438;AK307198;AL049547;AL645922;AL662849;AL844853;AMYH02013456;BC016916;BC110347;BC121128;BC121129;BC143833;BC143835;BX679671;CH471081;CR753822;CR753845;CR759782;CR936924;L26260;L26261;NM_004197;NM_032454;NR_026717;U24578;X77386;X77474 AAA20120;AAA20122;AAA99716;AAB67976;AAI10348;AAI21129;AAI21130;AAI43834;BAG63491;BAG64486;CAA54565;CAA54622;CAA54623;CAB89303;CAB89304;EAX03566;EAX03567;EAX03568;NP_004188;NP_115830;P49842 Hs.654371 1648514;1678425;1694140;1797462;2106659;2121053;2137309;2178940;5022012 AL035178;CYP21A2_2362;DOM3Z;RH11436;RH36425;SHGC-12566;STK19__5340;WI-16314;WI-7720 D6S60;D6S60E;G11;HLA-RP1;MGC117388;RP1 MHC class III HLA-RP1;Nuclear serine/threonine protein kinase;OTTHUMP00000029340;OTTHUMP00000029341;serine/threonine-protein kinase 19 APPROVED protein-coding ENSG00000204344 HGNC:11398 07281 604977 REVIEWED 1318050 STK32A serine/threonine kinase 32A ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH benzo[a]pyrene; cis-caffeic acid; copper atom 5 5 5 q32 142696707 142845791 + 146614526 146767418 + 147235016 147387855 + 737633;1580863;6480464;8554872 12477932 12471243;14702039;15372022;15489334;16344560;19845895;20379614 202374 B7Z9H7;Q8WU08 ABBA01026327;ABBA01026328;AC009189;AC011338;AK094580;AK299099;AK315942;AMYH02012425;AMYH02012426;BC021666;CH471062;DA110948;DA231845;DR006392;EB386256;NM_001112724;NM_001287740;NM_145001 AAH21666;BAG52892;BAG61158;BAH14313;EAW61827;EAW61828;NP_001106195;NP_001274669;NP_659438;Q8WU08 Hs.585069 1715175;1780576;1780694;1785306 RH119838;SHGC-111280;bac51266T;bac51629S MGC22688;YANK1 A930015B13Rik;OTTHUMP00000223848;OTTHUMP00000223877;serine/threonine-protein kinase 32A;yet another novel kinase 1 protein-coding ENSG00000169302 HGNC:28317 15445 VALIDATED 1604356 STK26 serine/threonine protein kinase 26 The product of this gene is a member of the GCK group III family of kinases, which are a subset of the Ste20-like kinases. The encoded protein contains an amino-terminal kinase domain, and a carboxy-terminal regulatory domain that mediates homodimerization. The protein kinase localizes to the Golgi apparatus and is specifically activated by binding to the Golgi matrix protein GM130. It is also cleaved by caspase-3 in vitro, and may function in the apoptotic pathway. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] X X X q26.2 131543656 131596380 + 131157245 131209971 + 132023217 132075943 + 6480464;8554872 11306563;11316611;1164178;11641781;11741893;12477932;12810671;14702039;15037601;15489334;15688006;15772651;16344560;17360971;18782753;19156129;19322201;19386264;19953087;20360068;21139048;21693764;21832049;21890473;21906983;22505724;22750858;22863883;23455922;23541896;23602568;23889253;24374310;24797263;24816145 51765 B4E0Y9;Q8NBY1;Q9NWX4;Q9P289 AB040057;ABBA01042190;ABBA01042191;ABBA01042192;ABBA01042193;ABBA01042194;AF231012;AF344882;AF344883;AK000556;AK027589;AK074837;AK075107;AK075150;AK303583;AK314356;AK316137;AL109749;AMYH02040498;BC013856;BC017213;BC070056;BC098315;BC099737;BC099843;BC103503;BT020099;CH471107;CQ783144;CQ783222;DA760264;NG_029562;NM_001042452;NM_001042453;NM_016542 AAH98315;AAH99843;AAI03504;AAK29620;AAK29621;AAK38484;AAV38902;ACE87792;ACT64455;BAA91251;BAA92785;BAB55215;BAC11236;BAC11406;BAC11435;BAG36989;BAG64601;BAH14508;CAF86351;CAF86419;EAX11786;EAX11787;NP_001035917;NP_001035918;NP_057626;Q9P289 Hs.444247 1694066;1694124;1715407;1855573;2148530;2160656;5106305 AL035147;AL035152;RH120536;RH16585;RH65695;WI-11835;WI-16556 MASK;MST-4;MST4 Mst3 and SOK1-related kinase;OTTHUMP00000024034;OTTHUMP00000215131;OTTHUMP00000215132;OTTHUMP00000215133;OTTHUMP00000215134;STE20-like kinase 4;STE20-like kinase MST4;mammalian Ste20-like protein kinase 4;mammalian sterile 20-like 4;serine/threonine protein kinase MASK;serine/threonine protein kinase MST4;serine/threonine-protein kinase MASK;serine/threonine-protein kinase MST4 APPROVED protein-coding ENSG00000134602 HGNC:18174 06663 300547 REVIEWED 732933 STK3 serine/threonine kinase 3 This gene encodes a serine/threonine protein kinase activated by proapoptotic molecules indicating the encoded protein functions as a growth suppressor. Cleavage of the protein product by caspase removes the inhibitory C-terminal portion. The N-terminal portion is transported to the nucleus where it homodimerizes to form the active kinase which promotes the condensation of chromatin during apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 8 8 8 q22.2 95652680 96023711 - 99466859 99954799 - 98454631 98942571 - 1580863;6480464;6907045;8554872 10840030;11278283;11964314;12477932;12554736;14729613;15075335;15489334;15618521;15688006;16510573;16930133;17081983;17379520;17538946;17598981;17889669;18328708;18362890;18640976;19327996;19484742;19525978;19797269;19822666;19919647;19962312;20086174;20090955;20145135;20212043;20231902;20360068;20562859;20949042;21076410;21104395;21139048;21199877;21900206;21906983;21944251;21988832;22053931;22078877;22102242;22195963;22590567;22948661;23455922;23459937;23972470;24180524;24250222;24255178;24816145;7566098;7665586;8274451;8566796;8816756;8816758 6788 E5RFQ9;E5RIM6;Q13188;Q8NBU1 AA370619;ABBA01037538;ABBA01037539;ABBA01037540;ABBA01037541;ABBA01037542;ABBA01037543;ABBA01037544;ABBA01037545;ABBA01037546;AC016877;AK075229;AK131363;AK291837;AK307787;AK312660;AMYH02018484;AMYH02018485;AMYH02018486;AP002087;AP003355;AP003467;AP003551;BC010640;CH471060;NM_001256312;NM_001256313;NM_006281;U26424;U60206;XM_005251034;Z25422 AAB17261;AAC50386;AAH10640;BAC11487;BAF84526;BAG54769;CAA80909;EAW91781;NP_001243241;NP_001243242;NP_006272;Q13188;XP_005251091 Hs.492333 1649781;1661527;1678055;1684850;1700286;1711884;2130177;2161873;2166312;2175241 D8S1924;D8S2107;G17283;G49552;RH103761;RH38901;RH64860;SHGC-32998;WI-18654;WI-20184 FLJ90748;KRS1;MST-2;MST2 OTTHUMP00000227170;OTTHUMP00000227171;OTTHUMP00000227172;STE20-like kinase MST2;mammalian STE20-like protein kinase 2;serine/threonine kinase 3 (STE20 homolog, yeast);serine/threonine kinase 3 (Ste20, yeast homolog);serine/threonine-protein kinase 3;serine/threonine-protein kinase Krs-1 APPROVED protein-coding ENSG00000104375 HGNC:11406 05433 605030 VALIDATED 2303326 STK33P1 serine/threonine kinase 33 pseudogene 1 9 9 9 q21.33 58677735 58679250 + 88107494 88109009 + 85492579 85494094 + 553118 ABBA01034037;AL451132;AMYH02021143;NG_009480 STK33P;STK33ps APPROVED pseudo HGNC:26871 INFERRED 1315072 STK33 serine/threonine kinase 33 ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN protein autophosphorylation (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; copper(2+) sulfate 11 11 11 p15.3 8531360 8733124 - 8413417 8615836 - 8391866 8594289 - 6480464;8554872 11528127;11738831;12477932;14702039;15489334;16176263;16344560;18029348;19079261;20571754;20816195;20935630;21742770;21832049;21988832;22451720;23967198 65975 B3KS39;B4DDH2;C9J319;C9J5G1;C9J6X7;C9J8B1;C9JCS6;E9PNP9;F8WAK5;H0YEZ7;Q9BYT3 ABBA01028692;ABBA01028693;ABBA01061212;AC104360;AC105357;AJ303380;AK092720;AK093251;AK122808;AK293193;AK310754;AL833011;AMYH02024289;AMYH02024290;AP006442;AX455758;BC031231;BG722074;BU580591;CH471064;DA348768;DB049619;NM_001289058;NM_001289059;NM_001289061;NM_030906;XM_006718278;XM_006718279;XM_006718280;XR_428847 AAH31231;ABM82443;ABW03415;BAC04109;BAG52601;BAG56733;CAC29064;CAD38243;CAH56302;EAW68623;EAW68624;EAW68625;NP_001275987;NP_001275988;NP_001275990;NP_112168;Q9BYT3;XP_006718341;XP_006718342;XP_006718343 Hs.501833 1669331;1686350;1731815;1737811;2111946;2118240;5110913;5121213 D11S3426;D11S431;D11S4725;G34056;RH92437;SGC44503;SHGC-44503;STS-F04004 OTTHUMP00000178934;OTTHUMP00000178935;OTTHUMP00000178936;OTTHUMP00000208016;OTTHUMP00000231432;serine/threonine-protein kinase 33 protein-coding ENSG00000130413 HGNC:14568 09642 607670 VALIDATED 1321037 STK35 serine/threonine kinase 35 The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008] 20 20 20 p13 2146462 2193146 + 2082528 2129201 + 2101882 2148555 + 1580863;6480464 11780052;11973348;12477932;14702039;15489334;15761153;16751776;19322201;19756140;21283756;21890473;21964068 140901 B4DYV9;Q8TDR2 ABBA01053787;AF195026;AK024394;AK026555;AK302629;AK314728;AL040176;AL359916;AMYH02036576;BC017340;BC111573;BC140883;BC140884;CH471133;GQ281297;NM_080836 AAH17340;AAI11574;AAI40884;AAI40885;AAL99353;ACU33925;BAG37270;BAG63871;EAX10603;NP_543026;Q8TDR2 Hs.100057 1652603;1713917;2110965;5107147 A006Y25;D10S409E;G65619;RH119388 CLIK-1;CLIK1;STK35L1 CLP-36 interacting kinase;CLP-36-interacting kinase 1;OTTHUMP00000030006;OTTHUMP00000221578;PDLIM1-interacting kinase 1;serine threonine kinase 35 long form;serine/threonine-protein kinase 35;serine/threonine-protein kinase 35 L1 APPROVED protein-coding ENSG00000125834 HGNC:16254 11612 609370 REVIEWED 1316442 STK36 serine/threonine kinase 36 This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 2 2 2 q35 213304520 213335199 + 219536749 219567440 + 218672026 218702717 + 6480464;6484113;6907045 10574462;10806483;12421765;12477932;14702039;14970697;15268766;15489334;15726444;16344560;17054904;17089004;17353931;18029348;18388863;18600476;21746835;22959728;9557739 27148 C9J1B8;C9JDA4;H7C2A4;H7C2I3;H7C359;Q9NRP7 AA524236;AA992176;AB033104;ABBA01023858;ABBA01023859;ABBA01023860;ABBA01023861;AC009974;AF200815;AK022692;AL133630;AMYH02005805;AX040393;BC026158;CH471063;DB062910;NG_029739;NM_001243313;NM_015690;XM_005246464;XM_006712420;XM_006712421 AAF97028;AAH26158;ABM82665;ABM85842;BAA86592;BAB14184;CAB63754;CAC16640;EAW70647;EAW70648;EAW70649;EAW70650;NP_001230242;NP_056505;Q9NRP7;XP_005246521;XP_006712483;XP_006712484 Hs.471404;Hs.712986 1647795;2109899;2166410 G27519;STK36_9532;WI-22153 DKFZp434N0223;FU;KIAA1278 OTTHUMP00000164096;OTTHUMP00000164097;OTTHUMP00000206456;fused homolog;serine/threonine kinase 36, fused homolog;serine/threonine-protein kinase 36 APPROVED protein-coding ENSG00000163482 HGNC:17209 09631 607652 REVIEWED 1606534 STK31 serine/threonine kinase 31 This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 7 7 7 p15.3 23738584 23860866 + 23749786 23872132 + 23710167 23832513 + 6480464;8554872 11279525;12477932;12853948;14702039;16344560;19953087;20379614;22828137;24623842;7566098 56164 B3KY91;C9JPB1;C9JQW5;E9PRQ0;F8W6E7;Q9BXU1 AA315045;ABBA01056716;AC003087;AC008176;AF285599;AF332194;AK057271;AK131214;AK292474;AK302689;AMYH02015369;AMYH02015370;AMYH02015371;AMYH02015372;AMYH02015373;AMYH02015374;BC033018;BC036476;BC047506;BC059374;CH236948;CH471073;DA533364;DB065148;DB086591;DB089624;DB095141;HC007316;HC044531;NM_001260504;NM_001260505;NM_031414;NM_032944;NR_048542;XM_005249811;XM_006715758 AAH59374;AAK17193;AAK31978;AAS07416;BAB71405;BAF85163;BAG54753;BAG63918;CBH19463;CBH30595;EAL24249;EAL24250;EAW93805;EAW93806;NP_001247433;NP_001247434;NP_113602;NP_116562;Q9BXU1;XP_005249868;XP_006715821 Hs.309767 1298159;2119415;5107163;7185558;7186410 D7S673;G17197;G65768 FLJ16102;SGK396;TDRD8 OTTHUMP00000122442;OTTHUMP00000201935;OTTHUMP00000201936;OTTHUMP00000229056;serine/threonine-protein kinase 31;serine/threonine-protein kinase NYD-SPK;sugen kinase 396;tudor domain containing 8 APPROVED protein-coding ENSG00000196335 HGNC:11407 10427 605790 REVIEWED 1353936 STK38L serine/threonine kinase 38 like ENCODES a protein that exhibits ATP binding; magnesium ion binding; protein serine/threonine kinase activity; INVOLVED IN intracellular signal transduction; protein phosphorylation; regulation of cellular component organization (ortholog); FOUND IN cytoplasm; actin cytoskeleton (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenous acid; benzo[a]pyrene 12 12 12 p11.23 32542971 32624487 + 27397078 27478892 + 27244145 27325959 + 1580863;6480464 10231032;12168954;12477932;15037617;15067004;15197186;15324660;15489334;15582665;16314523;16488889;17353931;17620599;18029348;19062280;19240061;20624913;21262772;21906983;22268729;22939624;23084401;23184937;23398456;23435566;23897809;24255178;24816145;8889548 23012 F5GY51;F5H0V1;F5H277;F5H5E6;F5H7Z3;H0YGN4;I3L0D0;Q9Y2H1 AB023182;ABBA01068046;AC092827;AC092829;AK291055;AK303373;AK304755;AK304862;AMYH02026244;BC014782;BC028603;BU681056;BX390969;CH471094;CQ826791;NM_015000;XM_005253342;XM_005253343;XM_006719058;XM_006719059 AAH28603;ABM82425;ABM85617;BAA76809;BAF83744;BAG65510;BAG65600;BAH13952;CAG44599;EAW96549;EAW96550;EAW96551;NP_055815;Q9Y2H1;XP_005253399;XP_005253400;XP_006719121;XP_006719122 Hs.184523 1688813;1782536;1782616;2109901;2134611;2134613;2156331;2191281 A002B24;D12S1875;G19890;MARC_17049-17050:1023803294:1;RH93323;SHGC-106915;SHGC-144746;STK38L_9299 KIAA0965;NDR2 NDR2 protein kinase;OTTHUMP00000240676;nuclear Dbf2-related 2;nuclear Dbf2-related kinase 2;serine/threonine-protein kinase 38-like protein-coding ENSG00000211455 HGNC:17848 10256 615836 VALIDATED 6480334 STK4-AS1 STK4 antisense RNA 1 (head to head) 20 20 43592435 43595099 - 44963794 44966458 - 14702039 100505826 ABBA01052655;AK057198;AL109839;AMYH02037144;AW205979;DB466740;HG511389;NG_032172;NR_038341 Hs.196065 RP5-1069P2.4 APPROVED ncrna ENSG00000227477 HGNC:43811 VALIDATED 1314150 STK32C serine/threonine kinase 32C The protein encoded by this gene is a member of the serine/threonine protein kinase family. The specific function of this kinase is not known. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 127666128 127766505 - 133996038 134145377 - 132207482 132307973 - 1580863;6480464 12471243;12477932;15164054;15489334;20580033;20936779;21906983;22939624;22939629 282974 B7Z7J1;F2Z300;H0Y349;H0Y431;Q86UX6 ABBA01006178;ABBA01006179;AK057849;AK098366;AK302102;AK308956;AK310725;AL451056;AL512622;AL590105;AMYH02024067;AMYH02024068;AMYH02024069;AMYH02024070;AY098866;BC015792;BC045760;CH471066;NM_173575;XM_006717781;XR_428705 AAH15792;AAH45760;AAM21719;BAH13627;EAW49126;EAW49127;EAW49128;EAW49129;NP_775846;Q86UX6;XP_006717844 Hs.469002 1651336;1758223;1779594;1782024;2146525;2146604 AF021109;HSC2HF042;RH78525;SHGC-147730;SHGC-149165;SHGC-153568 MGC23665;PKE;RP11-140A10.1;YANK3 OTTHUMP00000020764;OTTHUMP00000020765;OTTHUMP00000020766;PKE protein kinase;protein kinase (PKE);serine/threonine-protein kinase 32C;yet another novel kinase 3 APPROVED protein-coding ENSG00000165752 HGNC:21332 18119 REVIEWED 1323808 STK4 serine/threonine kinase 4 The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008] 20 20 20 q11.2-q13.2 40303755 40417237 + 43595120 43708600 + 44966479 45079959 + 1580863;6480464;6907045;8699517;8554872;7240710 11278283;11278782;11517310;11780052;11805089;11864565;11964314;12223493;12384512;12477932;12757711;12942774;14729613;15075335;15109305;15157167;15345747;15489334;15688006;16510573;1655021;16751106;16892067;16930133;17192257;17538946;17598981;17726016;17932490;18029348;18510339;18986304;19062280;19322201;19484742;19525978;19596235;19822666;19940129;19953087;19962960;20360068;20379614;20562859;20921231;21139048;21145461;21199877;21212262;21228115;21512132;21516123;21715626;21730291;21906983;21988832;22053931;22112013;22174160;22294732;22619175;22739148;22863277;22939629;23419720;23455922;23647599;24255178;24393845;24633305;24813251;24816145;2902784;7665586;8125298;8274451;8566796;8702870;8816758;8889548;9545236 6789 F5H5B4;Q13043 AB209315;ABBA01052655;ABBA01052656;ABBA01052657;AK027088;AK225326;AK309169;AK315238;AL109839;AL597960;AMYH02037144;AMYH02037145;AMYH02037146;AMYH02037147;BC005231;BC015332;BC029511;BC038850;BC039023;BC042861;BC058916;BC065215;BC093768;BM450795;BM455776;BM459914;BQ216721;BQ434275;BU153393;BU429479;BU633556;BU689980;BU902081;CH471077;CR933633;NG_032172;NM_006282;T18610;U18297;U60207;XM_005260530;XM_005260531;XM_005260532;XM_005260533;XM_006723870;Z25430;Z93016 AAA83254;AAB17262;AAH05231;AAH15332;AAH29511;AAH58916;AAH93768;BAD92552;BAG37665;CAA80917;CAI45939;EAW75882;EAW75883;NP_006273;Q13043;XP_005260587;XP_005260588;XP_005260589;XP_005260590;XP_006723933 Hs.472838 1299965;1662432;1669954;1752213;1767535;1769755;1778861;2123722;2126222;2131683;2154902;5015879;5017227;5020948;5022200;5037552;5109281;5109362;7183765 AL022266;AL023484;D17S1239;D1S1425;D20S1069;D20S119;D8S2279;G35510;G38154;GDB:314949;L18426;RH18007;RH47839;RH66078;RH68914;SHGC-106156;Z94383;Z94386 DKFZp686A2068;KRS2;MST-1;MST1;TIIAC;YSK3 OTTHUMP00000043418;OTTHUMP00000063226;STE20-like kinase MST1;dJ211D12.2 (serine/threonine kinase 4 (MST1, KRS2));kinase responsive to stress 2;mammalian STE20-like protein kinase 1;mammalian sterile 20-like 1;serine/threonine-protein kinase 4;serine/threonine-protein kinase Krs-2;yeast Ste20-like APPROVED protein-coding ENSG00000101109 HGNC:11408 05395 604965;614868 REVIEWED 1314640 STK32B serine/threonine kinase 32B ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; cobalt dichloride 4 4 4 p16.2 4950734 5400385 + 5053527 5502728 + 5051591 5501001 + 1302823;6480464;8554872 10700184 12471243;12477932;12975309;14702039;15489334;18454448;19240061;19389651;20087401;20379614;22939624;23535033;23834954;23936387;9847074 55351 D6R9Y2;E9PCC0;Q9NY57 ABBA01008255;ABBA01008256;ABBA01008257;ABBA01008258;ABBA01008259;AC004664;AC092665;AC096740;AC107395;AJ250839;AK055597;AK292696;AK313846;AL832436;AMYH02008651;AMYH02008652;AMYH02008653;AMYH02008654;AY358353;BC020281;BC024977;BC038238;BC069203;CH471131;NM_018401;XM_005247982;XM_005247983;XM_006713893;XM_006713894 AAH38238;AAQ88719;ABM84640;ABM92171;BAF85385;BAG36575;CAB76471;CAH10653;EAW82416;EAW82417;NP_060871;Q9NY57;XP_005248039;XP_005248040;XP_006713956;XP_006713957 Hs.133062 1338285;1652507;1660709;1665503;1698456;1718991;1722139;1753703;1755575;1771663;2120053;2124906;2132010;2138676;2143570;2145996;2168925;2177304;2178532;2184411;5491595 D4S1363;D4S1387;D4S2285;D4S2732;D4S511;D4S527;D4S543;D4S576;D4S842;D4S909;G16708;G34218;G60117;MARC_23858-23860:1025288948:1;RH102777;RH123204;SHGC-107572;SHGC-142429;SHGC-51081;SHGC-57609;SHGC-60305 HSA250839;STK32;STKG6;YANK2 OTTHUMP00000115490;OTTHUMP00000217008;OTTHUMP00000217010;gene for serine/threonine protein kinase;serine/threonine-protein kinase 32B;yet another novel kinase 2 protein-coding ENSG00000152953 HGNC:14217 15446 PROVISIONAL 1316505 STKLD1 serine/threonine kinase-like domain containing 1 ENCODES a protein that exhibits ATP binding (inferred); protein kinase activity (inferred); INVOLVED IN protein phosphorylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH afimoxifene; copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q34.2 106793768 106821789 + 136243284 136271220 + 133376413 133406096 + 737633;6480464;8554872 12477932 12471243;14702039;15164053;15489334;23267103 169436 B4DH61;Q8NE28 ABBA01032458;ABBA01032459;ABBA01032460;ABBA01032461;AK131533;AK131545;AK294947;AL158826;AL593848;AMYH02021828;AMYH02021829;AMYH02021830;BC036504;CH471090;NM_153710;NR_103997 AAH36504;BAD18679;BAG58022;CAI12843;EAW88075;EAW88076;EAW88077;EAW88078;EAW88079;EAW88080;EAW88081;NP_714921;Q8NE28 Hs.720195 1339754;1653548;1683996;1689951;2127411;5021226;7186178 A008L29;Cda18h02;D14S594;D9S164;RH75089;WI-21963 C9orf96;MGC43306;RP11-244N20.8;SgK071;Sk521 OTTHUMP00000022465;probable inactive protein kinase-like protein SgK071;protein kinase-like protein SgK071;serine/threonine kinase-like domain-containing protein 1;serine/threonine kinase-like domain-containing protein STKLD1;sugen kinase 071 APPROVED protein-coding ENSG00000198870 HGNC:28669 12990 VALIDATED 734214 STK39 serine threonine kinase 39 This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008] 2 2 2 q24.3 162419314 162712878 - 168810530 169104105 - 167954020 168247595 - 727300;1580863;6480464;8554872 10980603 11514053;12386165;12740379;14563843;14702039;15930150;16263722;16530727;16669787;16950202;16964243;17081983;17321610;18270262;18348195;18550547;18787102;19114657;19343169;19414679;19470686;19717643;20003416;20379614;20442269;20555294;20889219;21139048;21178783;21292315;21317537;21321328;21442361;21705622;21890473;21906983;22779921;22863883;23034389;23151749;23235358;23527223;23894895;24133122;24191005;24312176;24393035;24655550;24722188;24816145 27347 Q6E0B2;Q9UEW8 ABBA01004949;ABBA01004950;ABBA01004951;AC016723;AC017069;AC067940;AF017635;AF030403;AF099989;AK126343;AMYH02005166;AMYH02005167;AMYH02005168;AMYH02005169;BC146813;BF516344;BX647113;BX648046;CH471058;DQ537524;KJ534948;KJ534949;KJ534950;KJ534951;KJ534999;KJ535059;NM_013233;XM_005246465;XM_005246466 AAB70552;AAC72238;AAD01901;AAI66614;AAY14897;AAY15003;AAY24032;ABG34553;AHW56588;AHW56589;AHW56590;AHW56591;AHW56639;AHW56698;EAX11304;NP_037365;Q9UEW8;XP_005246522;XP_005246523 Hs.276271 1661642;1678031;1751035;1766015;1784030;1784060;1784302;2119096;2126056;2141839;2167181;5024039 26;D16S325;RH11654;RH68427;RH69463;RH99072;SHGC-104962;SHGC-144147;SHGC-145855;SHGC-149406;SHGC-32064;SHGC-70162 DCHT;DKFZp686K05124;PASK;SPAK OTTHUMP00000165175;STE20/SPS1 homolog;STE20/SPS1-related proline-alanine-rich protein kinase;Ste20-like protein kinase;proline-alanine-rich STE20-related kinase;serine threonine kinase 39 (STE20/SPS1 homolog, yeast);serine/threonine-protein kinase 39;small intestine SPAK-like kinase;ste-20-related kinase APPROVED protein-coding ENSG00000198648 HGNC:17717 09627 607648 REVIEWED 1319806 STK38 serine/threonine kinase 38 ENCODES a protein that exhibits ATP binding; magnesium ion binding; mitogen-activated protein kinase kinase kinase binding; INVOLVED IN cellular protein modification process; intracellular signal transduction; negative regulation of MAP kinase activity; FOUND IN cytoplasm; MLL5-L complex; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2-methylcholine 6 6 6 p21 38016709 38070290 - 36461666 36515256 - 36493889 36547479 - 1580863;6480464 12477932;12493777;14574404;14661952;15067004;15197186;15324660;15489334;15582665;15670829;16135814;16884686;17317633;17620599;17707232;17906693;18029348;18362890;19058789;19062280;19167051;19327996;19875983;19919647;20360068;20624913;21139048;21262772;21730291;21906983;21942715;21963094;22142472;22268729;22354994;22505724;22674419;22939624;22952844;23022380;23084401;23178486;23184937;23402259;23886587;23897809;24250222;24657165;24816145;25027693;7761441;9647638;9774336 11329 Q15208;Q9UPD3 ABBA01038260;AF034188;AK312559;AMYH02013556;AMYH02013557;BC012085;BC095413;CH471081;CQ826789;NM_007271;XM_005248839;XM_006714988;XM_006714989;XM_006714990;Z35102;Z85986 AAD50530;AAH12085;AAH95413;ACE86762;ACE87449;BAG35456;CAA84485;CAG44584;EAX03894;EAX03895;EAX03896;NP_009202;Q15208;XP_005248896;XP_006715051;XP_006715052;XP_006715053 Hs.409578 1669708;1712136;1850807;2108949;2128955;2131767;2140149;2141315;2150824;2167685;2170274;5093888 A006N47;A008P39;A009Y21;D6S1158E;D6S1414;G32983;G54118;RH36363;RH46870;RH69775;SGC35468;STK38_9264 NDR;NDR1 NDR1 protein kinase;Ndr Ser/Thr kinase-like protein;OTTHUMP00000016293;nuclear Dbf2-related 1;nuclear Dbf2-related kinase 1;serine threonine protein kinase;serine/threonine-protein kinase 38 protein-coding ENSG00000112079 HGNC:17847 09511 606964 PROVISIONAL 6770604 STMN1P1 stathmin 1 pseudogene 1 12 12 12 11690777 11691219 - 31868276 31868715 - 31715342 31715781 - 100506685 ABBA01031738;AC023157;AMYH02026284;NG_030122 pseudo HGNC:44062 INFERRED 1605028 STK40 serine/threonine kinase 40 ENCODES a protein that exhibits ATP binding (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN glycogen metabolic process (inferred); lung alveolus development (inferred); lung morphogenesis (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 1 1 1 p34.3 35080354 35126619 - 36805225 36851525 - 36339619 36385927 - 6480464 11076863;11230166;12477932;13679039;14702039;15489334;15489336;16169070;16344560;16381901;16710414;18029348;19953087;21832049;23226273;23233723;24447338 83931 Q8N2I9 ABBA01023298;ABBA01023299;AC119675;AK000808;AK024504;AK075029;AK075048;AK131560;AL591845;AL834137;AMYH02000783;AMYH02000784;AMYH02000785;AW269508;AY198395;BC005169;BC007835;BC008344;CH471059;CQ834750;CQ834752;DA375448;NM_001282546;NM_001282547;NM_032017 AAH05169;AAH07835;AAH08344;AAP20040;BAB15794;BAC11361;BAC11371;BAD18694;CAD38852;CAH05590;CAH05591;CAL37398;CAL37413;CAL37475;CAL37648;CAL37730;CAL37831;CAL37847;CAL38152;EAX07368;EAX07369;EAX07370;EAX07371;EAX07372;EAX07373;NP_001269475;NP_001269476;NP_114406;Q8N2I9 Hs.471768 1755543;2133032;2149186;2167721 A008P26;SHGC-142395;SHGC-74578;SHGC-74593 MGC4796;RP11-268J15.4;SHIK;SgK495 2310004N11Rik;OTTHUMP00000009948;OTTHUMP00000009949;OTTHUMP00000009950;OTTHUMP00000009951;SINK-homologous serine/threonine-protein kinase;Ser/Thr-like kinase;serine/threonine-protein kinase 40;sugen kinase 495 protein-coding ENSG00000196182 HGNC:21373 11359 609437 VALIDATED 6769530 STMN1P2 stathmin 1 pseudogene 2 4 4 4 q28.3 135681741 135682257 - 138346583 138347018 - 137425429 137425864 - 100289663 ABBA01044901;AC097514;AMYH02010172;NG_030216 1847414 SHGC-25171 pseudo HGNC:44063 INFERRED 68960 STMN1 stathmin 1 This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 1 1 1 p36.11 24606762 24629447 - 26210670 26233368 - 25884186 25906877 - 6480464;6907045 10197448;10675326;10702243;11076863;11135364;11181995;11256614;11415983;11572331;11771751;11870780;11922601;12242154;12372625;12477932;12644570;12676564;12763137;12858178;12860982;1445213;14702039;15489334;15489336;15652749;15659612;16094384;16258287;16381901;16401721;16427064;16495930;16548883;16554300;16624860;16710414;16713569;16757134;16909102;16964243;17012855;17029844;17081983;1737801;17440165;17455228;17472732;17663418;17874182;18054374;18262179;18305103;18434595;18461287;18555017;18563556;18613117;18666697;18718898;19012073;19017487;19034510;19048596;1917919;19179443;19449284;19526456;19556289;19569914;1957351;19738201;19779961;20016921;20058236;20087351;20110360;20120870;20204289;20385220;20399773;20468064;20650764;20657188;20675373;20806969;20819663;20946355;21139048;21242118;21281784;21319273;21364187;21438138;21489836;21768358;21809374;21890473;21900206;21906983;22038457;22053931;22169288;22181002;22359235;22378487;22417000;22470493;22480216;22505724;22535533;22623428;22626996;22665054;2278968;22810585;22902274;22911364;22915755;22926856;22935917;22939629;23000965;23071542;23211296;23383273;23396365;23398456;23538402;23552806;2358074;23583473;23610071;23760979;23824909;23860484;23864651;23975322;24040910;24043603;24113009;24135250;24152729;24218338;24299310;24306928;24355524;24433541;24589734;24686088;24708177;24816145;2760073;2917975;7724523;7821789;8002936;8003023;8125092;8245003;8325880;8376365;8906359;9271428;9788875;9880330 3925 A2A2D0;P16949 AB209282;AB451319;AB451448;ABBA01034887;AK054594;AK056768;AK303692;AK311801;AL033528;AMYH02000549;AV714035;BC014353;BC023313;BC028398;BC082228;BC114443;BC114502;BF686314;BG030679;BG493669;BM563894;BQ428400;BQ772197;BX647885;CH471059;D28428;J04991;M31303;NM_001145454;NM_005563;NM_203399;NM_203401;X53305;X94912;Z11566 AAA59971;AAA59980;AAH14353;AAH82228;AAI14444;AAI14503;BAA05794;BAB71277;BAD92519;BAG34744;BAG70133;BAG70262;BAH14020;CAA37391;CAA64398;CAA77660;CAL37732;EAX07854;EAX07855;EAX07856;EAX07857;EAX07858;EAX07859;EAX07860;EAX07861;NP_001138926;NP_005554;NP_981944;NP_981946;P16949 Hs.209983 1744667;1775734;2114469;2173303;2175369;2218064;5015619;5022200;5037552;5115634 A006T10;D11S3114;D1S2416;D1S3529;D8S2279;GDB:549193;L18426;RH70969;STMN1;STMN1_3400 C1orf215;FLJ32206;LAP18;Lag;MGC138869;MGC138870;OP18;PP17;PP19;PR22;SMN OTTHUMP00000008527;OTTHUMP00000008528;OTTHUMP00000008529;OTTHUMP00000008530;OTTHUMP00000008531;OTTHUMP00000230726;leukemia-associated phosphoprotein p18;metablastin;oncoprotein 18;phosphoprotein 19;phosphoprotein p19;prosolin;stathmin;stathmin 1/oncoprotein 18;transmembrane protein C1orf215 APPROVED protein-coding ENSG00000117632 HGNC:6510 01047 151442 REVIEWED 69018 STMN3 stathmin-like 3 This gene encodes a protein which is a member of the stathmin protein family. Members of this protein family form a complex with tubulins at a ratio of 2 tubulins for each stathmin protein. Microtubules require the ordered assembly of alpha- and beta-tubulins, and formation of a complex with stathmin disrupts microtubule formation and function. A pseudogene of this gene is located on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 20 20 20 q13.3 58951675 58965521 - 62271058 62284963 - 63639705 63653610 - 69977;1580863;6480464 9603203 10655513;11278715;11780052;12477932;12676564;12858178;14702039;15489334;16169070;16344560;18549247;18816836;19523119;19824884;21297633;21852239;21906983;22577147;23000965;23535732;23543364;23864651;24589734;24816145;9788875 50861 Q9NZ72 ABBA01021410;ABBA01021411;ABBA01021412;ABBA01021413;ABBA01021414;ABBA01021415;AF069709;AF069710;AF217796;AK074860;AK094112;AK131326;AK298903;AK310010;AL353715;AMYH02037467;BC009381;BC025234;BC032527;BC047671;BC056873;BQ703411;BX449528;CH471077;DA161621;DA181040;DB564475;NM_001276310;NM_015894;NR_075070 AAD12730;AAF35245;AAH09381;AAH25234;ABM84047;ABM87396;BAC11252;BAG52817;BAH12900;EAW75249;EAW75250;NP_001263239;NP_056978;Q9NZ72 Hs.639609 SCLIP OTTHUMP00000031570;SCG10-like protein;SCG10-like-protein;stathmin-3 APPROVED protein-coding ENSG00000197457 HGNC:15926 16324 608362 REVIEWED 1349002 STN statin 3902853 1177 HGNC:11416 69000 STMN2 stathmin 2 This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010] 8 8 8 q21.13 76527590 76581458 + 80523049 80578410 + 79610814 79666175 + 737642;1580863;6480464;8554872 12140291 10947801;11278715;11718727;11830198;11882662;12477932;12858178;14702039;15035981;15200951;15489334;15561718;16169070;16189514;16712787;17311410;18076368;18452648;18549247;18570921;18611392;18996843;19081515;19959466;20621975;20802173;20883670;21139048;21215777;21273291;21890473;21900206;21906983;22053931;22505724;22939629;23000965;23893240;24589734;7871435;8622778;9030585;9126608;9525956 11075 E5RGX5;Q93045 ABBA01004076;AC016240;AC025599;AI096716;AK091336;AK292737;AK297485;AK297594;AK299500;AK308557;AK309130;AL110174;AMYH02018282;AMYH02018283;AMYH02018284;BC006302;BQ069488;BT020034;CH471068;CR456833;D50375;DC319376;NM_001199214;NM_007029;S82024;XM_005251142 AAB36428;AAH06302;AAV38837;ABM83645;ABM86894;BAA23326;BAF85426;BAH12589;BAH12622;BAH13053;CAG33114;EAW87063;EAW87064;EAW87065;NP_001186143;NP_008960;Q93045;XP_005251199 Hs.521651 1340526;1717353;1735774;1740001;1773764;1777646;5126243 D8S1385E;D8S1388E;D8S1683;D8S1760;RH122167;RH78013;RH78014 FLJ34868;FLJ50995;SCG10;SCGN10;SGC10 OTTHUMP00000226983;OTTHUMP00000226984;OTTHUMP00000227682;neuron-specific growth-associated protein;neuronal growth-associated protein (silencer element);stathmin-2;stathmin-like 2;superior cervical ganglia, neural specific 10;superior cervical ganglion-10 protein APPROVED protein-coding ENSG00000104435 HGNC:10577 09003 600621 REVIEWED 7205150 STMND1 stathmin domain containing 1 INVOLVED IN regulation of microtubule polymerization or depolymerization (inferred) 6 6 6 p22.3 18340377 18369493 + 17102489 17131603 + 17102258 17131372 + 20379614 401236 H3BMF7;H3BQB6 ABBA01022196;AK026805;AL138740;AMYH02013191;AMYH02013192;CH471087;DT932725;DV080442;NM_001190766 EAW55377;H3BQB6;NP_001177695 Hs.677399 stathmin domain-containing protein 1;uncharacterized protein LOC401236 protein-coding ENSG00000230873 HGNC:44668 VALIDATED 1344779 STNL statin-like 6669 HGNC:11417 1312947 STOM stomatin This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 9 9 9 q34.1 94749842 94781033 - 124101266 124132582 - 121338988 121370304 - 1580863;6480464;8699517 10338112;10524211;10562431;10604657;11287341;12130500;12202484;12429719;12477932;12643545;12750157;15024010;15071792;15121101;15164053;15342556;15471860;1547348;15489334;16196087;16197460;16344560;16502470;16766530;17000644;17081065;17353931;17961506;18029348;18067507;18267007;18358815;1883838;19056867;19190083;19696025;19738201;19946888;20360068;20583170;20858460;21139048;21501885;21643969;21674799;21919203;21963094;21987572;21988832;22268729;22623428;22939629;23182705;23219802;23672602;23798571;24816145;7592848;8276411;8373790;8500356;8825639;9147127;9243190;9512664;9642292 2040 B4E2V5;P27105 ABBA01016233;AI224884;AK302977;AK304449;AK304518;AK307999;AL040491;AL161784;AL359644;AMYH02021579;AU137947;BC010703;BG701899;BI553227;BI763647;BM451470;BM925356;BP208523;CA447945;CH471090;CR542100;DC368197;GN344119;GN344121;M81635;NM_001270526;NM_001270527;NM_004099;NM_198194;NR_073037;U33931;X60067;X85116 AAA58432;AAC50296;AAH10703;ABM81984;ABM85162;BAG64120;BAG65267;BAG65322;CAA42671;CAA59436;CAG46897;CAY55995;CAY55996;EAW87493;EAW87494;NP_001257455;NP_001257456;NP_004090;NP_937837;P27105 Hs.253903 1660758;1721275;2157442;2161108;2168190;5015619;5022450;5094286 D10S275;D11S3114;D9S1964;G35308;G54688;G59634;RH11801;STS-U33931 BND7;EPB7;EPB72 OTTHUMP00000022024;OTTHUMP00000022025;erythrocyte band 7 integral membrane protein;erythrocyte membrane protein band 7.2 (stomatin);erythrocyte surface protein band 7.2;protein 7.2b APPROVED protein-coding ENSG00000148175 HGNC:3383 00585 133090 REVIEWED 1322361 STOML3 stomatin (EPB72)-like 3 INVOLVED IN signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cilium (inferred); integral component of membrane (inferred); membrane raft (inferred); INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 13 13 13 q13.3 20594070 20619005 - 39540062 39564996 - 38965925 38990859 - 1580863;6480464;8554872 12122055;12477932;15057823;15489334;16344560;20694148;21832049;22538188;8889548 161003 Q8TAV4 ABBA01021316;ABBA01021317;ABBA01021318;ABBA01021319;AK304159;AK313632;AL445590;AMYH02027893;AMYH02027894;AMYH02027895;BC025760;BM982114;CH471075;CQ815089;DB200356;FB746713;NM_001144033;NM_145286;XM_005266274 AAH25760;ABM82602;ABW03405;BAG36391;BAG65047;CAG30025;CAV31089;EAX08609;NP_001137505;NP_660329;Q8TAV4;XP_005266331 Hs.327794 Epb7.2l;SLP-3;SRO OTTHUMP00000018290;erythrocyte band 7 integral membrane protein;protein 7.2B;stomatin-like protein 3 protein-coding ENSG00000133115 HGNC:19420 16315 608327 VALIDATED 1347763 STOML1 stomatin (EPB72)-like 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH atrazine; calcitriol; formaldehyde 15 15 15 q24-q25 51152879 51161955 - 74275559 74286963 - 73983218 73994622 - 1580863;6480464;8554872 10997330;12477932;14702039;15471860;15489334;16303743;19696025;20195357;21501885;21832049;23082202;8125298;9931417 9399 H3BPC1;H3BQA9;H3BST3;H3BVF2;Q53HB6;Q9UBI4 ABBA01038704;AC108137;AF074953;AF111800;AF156557;AF156564;AK075244;AK091531;AK093689;AK222665;AK300799;AK302051;AL109664;AL109665;AL533460;AMYH02030783;BC034379;BC065249;BX464941;CH471082;CQ783352;CR542089;DQ064605;NM_001256672;NM_001256673;NM_001256674;NM_001256675;NM_001256676;NM_001256677;NM_004809;XM_005254792;XM_005254793;XM_006720771;XM_006720772;XM_006720773;XM_006720774;Y16522 AAD42031;AAF06960;AAF23080;AAH34379;AAH65249;AAL39002;AAY68393;BAD96385;BAG52092;BAG62457;BAG63441;CAA76271;CAB52015;CAB52016;CAF86558;CAG46886;EAW77940;EAW77941;EAW77942;EAW77943;EAW77944;EAW77945;NP_001243601;NP_001243602;NP_001243603;NP_001243604;NP_001243605;NP_001243606;NP_004800;Q9UBI4;XP_005254849;XP_005254850;XP_006720834;XP_006720835;XP_006720836;XP_006720837 Hs.194816 1660931;1678321;2108535;2138052;5111461 A008W10;D15S624E;G06258;RH91728;STOML1_8931 FLJ36370;SLP-1;STORP;hUNC-24 EPB72-like protein 1;OTTHUMP00000174947;protein unc-24 homolog;stomatin (EBP72)-like 1;stomatin-like 1;stomatin-like protein 1;stomatin-related protein protein-coding ENSG00000067221 HGNC:14560 16314 608326 VALIDATED 1602494 STON1 stonin 1 Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 2 2 2 p16.3 48647657 48665958 + 48757308 48825654 + 48530169 48598515 + 6480464;8554872 10364255;11159353;11381094;11454741;12477932;14504226;14702039;16344560;18029348;19732400;23602568;24529757;8889548 11037 B2RB25;H7C1E2;Q9Y6Q2 ABBA01075196;ABBA01075197;AC073082;AF255310;AK023617;AK314464;AL080210;AL700433;AL703296;AMYH02003780;AMYH02003781;AMYH02003782;AMYH02003783;AY026319;BC121063;BC121064;BM974074;CR936807;DB288942;NG_033050;NM_001198595;NM_006873 AAI21064;AAI21065;AAI66659;AAK11719;AAK57559;BAG37072;NP_001185524;NP_006864;Q9Y6Q2 Hs.44385;Hs.732016;Hs.736128 1663360 G16451 DKFZp781K2462;FLJ95267;MGC149803;MGC149804;SALF;SBLF;STN1;STNB1 OTTHUMP00000201057;OTTHUMP00000201058;stoned B homolog 1;stoned B-like factor;stoned-b1;stonin-1 APPROVED protein-coding ENSG00000243244 HGNC:17003 16100 605357 REVIEWED 1604566 STON2 stonin 2 This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 14 14 14 q31.1 61776811 61904826 - 81726994 81902789 - 81260650 81427404 - 6480464;8554872 11381094;11454741;12477932;12508121;14702039;14726597;15489334;16459302;18029348;18166656;18200045;19380743;19636924;19732400;19738201;21102408;21139048;21407139;21906983;22623428;23000965;23251661;23785397 85439 G3V322;H0YJ05;Q8WXE9 AB208948;ABBA01030608;ABBA01030609;ABBA01030610;AF255309;AF380833;AF449430;AK094799;AL121769;AL136040;AMYH02029625;AMYH02029626;AMYH02029627;AMYH02029628;AMYH02029629;BC069359;BC069389;BC069502;BC069587;BC117493;BC117495;BX648249;CH471061;KC877533;KF455961;NM_001256430;NM_033104;XM_006720279;XM_006720280;XM_006720281 AAH69359;AAH69389;AAH69502;AAH69587;AAI17494;AAI17496;AAK57558;AAK76362;AAL47008;ADR83419;BAD92185;EAW81340;EAW81341;NP_001243359;NP_149095;Q8WXE9;XP_006720342;XP_006720343;XP_006720344 Hs.14248 1698598;1768324;1776243;2162701;2179713;5022578;5037552;5093584 A009S17;D1S1423;D8S2279;G09554;G32805;G35749;RH102852;RH45423 STN2;STNB;STNB2 OTTHUMP00000245983;homolog of stoned B;stoned B homolog 2;stonin-2 APPROVED protein-coding ENSG00000140022 HGNC:30652 10531 608467 VALIDATED 733859 STMN4 stathmin-like 4 INVOLVED IN regulation of microtubule polymerization or depolymerization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell projection (inferred); Golgi apparatus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; arsenite(3-) 8 8 8 p21.2 26056724 26078813 - 27093814 27116382 - 27235323 27258865 - 1580863;6480464;8554872 11230166;12477932;12676564;12858178;15489334;16169070;8125298;9788875 81551 E5RIR6;E7EVN3;Q9H169 ABBA01005584;AC090150;AI638208;AJ303455;AK225142;AK294023;AK295329;AK297415;AK309207;AL136568;AMYH02017669;BC011520;BC111001;CH471080;NM_001283053;NM_001283054;NM_001283055;NM_030795;XM_005273652;XM_005273655 AAH11520;AAI11002;ABM81966;ABM85145;BAH11650;BAH12033;BAH12575;CAB66503;CAC22254;EAW63562;EAW63563;EAW63564;EAW63565;EAW63566;EAW63567;NP_001269982;NP_001269983;NP_001269984;NP_110422;Q9H169;XP_005273709;XP_005273712 Hs.201058;Hs.734948 1647757;2119429 A002J23;RH15982 MGC111012;RB3 OTTHUMP00000125315;OTTHUMP00000225147;OTTHUMP00000225148;OTTHUMP00000225149;OTTHUMP00000225150;stathmin-4;stathmin-like protein B3;stathmin-like-protein RB3 protein-coding ENSG00000015592 HGNC:16078 18120 VALIDATED 1350004 STOT salt tolerator 6798 HGNC:11419 1604956 STON1-GTF2A1L STON1-GTF2A1L readthrough STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [provided by RefSeq, Oct 2010] 2 2 2 p16.3 48636050 48747046 + 48757064 49003656 + 48529925 48776517 + 6480464;8554872 10364255;11159353;11329013;11381094;11454741;12477932;20967262;21139048;21151128;22885925;24529757 286749 Q3MIM1;Q53S48;Q9Y6Q2 ABBA01075195;ABBA01075196;ABBA01075197;ABBA01075198;AC073082;AC087816;AC091788;AF026169;AK309740;AMYH02003779;AMYH02003780;AMYH02003781;AMYH02003782;AMYH02003783;AMYH02003784;AMYH02003785;AMYH02003786;BC101772;BC101774;BC143520;BG191372;BX091338;KF456667;NG_033050;NM_001198593;NM_001198594;NM_172311 AAD39617;AAI01773;AAI01775;AAI43521;AAY15064;NP_001185522;NP_001185523;NP_758515 Hs.732016 1663360;2111448;2177530;5016328 D2S2548;G16451;RH69506;SGC35210 MGC126821;MGC126823;SALF OTTHUMP00000159452;OTTHUMP00000200508;OTTHUMP00000201180;stoned B/TFIIA alpha/beta like factor;stoned B/TFIIA-alpha/beta-like factor APPROVED protein-coding ENSG00000068781 HGNC:30651 18496 REVIEWED 1601982 STOX2 storkhead box 2 INVOLVED IN maternal placenta development; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; acetaldehyde 4 4 4 q35.1 182155232 182267467 + 184826509 184944679 + 183905356 184023526 + 6480464;8554872 10718198;12477932;14702039;20360068;20379614;20643876;23400010;23455922 56977 D6RDA5;H0Y8U0;H0YA59;Q9P2F5 AB037813;ABBA01070509;ABBA01070510;ABBA01070511;AC074194;AK001394;AK096619;AK289840;AL390216;AL512713;AMYH02010647;AMYH02010648;BC146754;CH471056;NM_020225;XM_005263142 AAI46755;BAA92630;BAF82529;CAB99230;EAX04684;NP_064610;Q9P2F5;XP_005263199 Hs.21958;Hs.696657 1643714;1660578;1714981;1760093;1770764;1780406;2128913;2136384 AI449080;D17S1292;D4S2871;G33677;L17909;RH120828;SGC30559;SHGC-107767 DKFZp762K222 OTTHUMP00000218593;storkhead-box protein 2 protein-coding ENSG00000173320 HGNC:25450 16823 PROVISIONAL 1604766 STPG1 sperm-tail PG-rich repeat containing 1 INVOLVED IN apoptotic process (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper atom; copper(0) 1 1 1 p36.11 23010632 23055104 - 24683489 24741587 - 24356999 24415097 - 6480464 12477932;14702039;23028632 90529 H0Y4J3;Q5TH74;Q5TH77 ABBA01059904;AK025957;AK299401;AL031431;AMYH02000519;AX399921;BC017650;BC034315;BC035061;BC040212;BC047705;BC063891;BI917854;BM922375;CH471134;NM_001199012;NM_001199013;NM_001199014;NM_178122;XM_005246027;XM_005246028;XM_006711025;XM_006711026 AAH17650;AAH35061;AAH47705;AAH63891;BAG61385;CAD33365;EAW95124;EAW95125;EAW95126;EAW95127;EAW95128;EAW95129;NP_001185941;NP_001185942;NP_001185943;NP_835223;Q5TH74;XP_005246084;XP_005246085;XP_006711088;XP_006711089 Hs.403187 1660541;1733024;2170731;5015861;5022651;7185938 D10S16;D11S2921;D1S1385;SHGC-74398;SHGC-74407 C1orf201;FLJ33340;MAPO2 O(6)-methylguanine-induced apoptosis 2;O6-methylguanine-induced apoptosis 2;OTTHUMP00000003334;OTTHUMP00000003335;UPF0490 protein C1orf201;hypothetical protein LOC90529;sperm-tail PG-rich repeat-containing protein 1 APPROVED protein-coding ENSG00000001460 HGNC:28070 14273 615826 VALIDATED 7243019 STPG2-AS1 STPG2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 q22.3 98288077 98411315 + 97366926 97490164 + 8554872 16344560 101410545 ABBA01063647;ABBA01063648;ABBA01063649;AC021878;AC034154;AC108217;AMYH02009778;AMYH02009779;AMYH02009780;DA719663;HG497092;NR_102713 Hs.628520 RP11-18N21.2 ncrna ENSG00000251620 HGNC:41209 VALIDATED 1349037 STRA13 stimulated by retinoic acid 13 ENCODES a protein that exhibits DNA binding; double-stranded DNA binding; INVOLVED IN replication fork processing; resolution of meiotic recombination intermediates; FOUND IN FANCM-MHF complex; Fanconi anaemia nuclear complex; INTERACTS WITH (-)-demecolcine; 5-fluorouracil; cobalt dichloride 17 17 17 q25.3 3630 7824 + 79976579 79980786 - 82018703 82022910 - 737633;6480464 12477932 16712791;17347673;18816836;19620631;20347429;20416077;22510687;22705371;23886707;24256282;24522885;8839844 201254 A8MT69;J3QR01;J3QR35;J3QRS1 ABBA01019660;AC137723;AMYH02034146;BC009571;BC011610;BI837753;BQ648002;CB110145;CS072316;HY110543;NM_001271006;NM_001271007;NM_144998;U95006;U95007;XM_005256339 A8MT69;AAB53638;AAB53639;AAH09571;AAH11610;ABM84015;ABM87360;CAI93454;NP_001257935;NP_001257936;NP_659435;XP_005256396 Hs.37616 CENP-X;CENPX;D9;FAAP10;MGC14480;MHF2 FANCM-interacting histone fold protein 2;Fanconi anemia-associated polypeptide of 10 kDa;OTTHUMP00000163006;OTTHUMP00000163007;centromere protein X;retinoic acid-inducible gene D9 protein homolog;stimulated by retinoic acid 13 homolog;stimulated by retinoic acid gene 13 protein homolog APPROVED protein-coding ENSG00000169689 HGNC:11422 18121 615128 VALIDATED 1602169 STPG2 sperm-tail PG-rich repeat containing 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 4 4 4 q22.3-q23 95774867 96359061 - 98480025 99064391 - 97184113 98143240 - 8554872 12477932;17207965;20379614;23031811;24009623;24250222 285555 H0YAZ7;Q8N412 ABBA01063650;ABBA01063651;AC018884;AC019077;AC021878;AC034154;AC073855;AC108217;AC108515;AC131949;AMYH02009780;AMYH02009781;AMYH02009782;AMYH02009783;AMYH02009784;AMYH02009785;BC036870;BX648305;CH471057;NM_174952;XM_006714186 AAH36870;ADQ33018;EAX06066;EAX06067;NP_777612;Q8N412;XP_006714249 Hs.680226 1341369;1651007;1706760;1728111;1759963;1853806;2121237;2136636;2183816 D4S1637;D4S2443;D4S452;D4S609;G01864;G34281;G63327;SHGC-80847;SHGC4-1702 C4orf37;MGC46496 OTTHUMP00000161627;hypothetical protein LOC285555;sperm-tail PG-rich repeat-containing protein 2;uncharacterized protein C4orf37 APPROVED protein-coding ENSG00000163116 HGNC:28712 14650 VALIDATED 1317972 STOML2 stomatin (EPB72)-like 2 ENCODES a protein that exhibits cardiolipin binding; INVOLVED IN cellular calcium ion homeostasis; mitochondrial ATP synthesis coupled proton transport; mitochondrial calcium ion transport; FOUND IN actin cytoskeleton; COP9 signalosome; extrinsic component of plasma membrane; INTERACTS WITH all-trans-retinoic acid; cobalt dichloride; copper(2+) sulfate 9 9 9 p13.1 35031870 35035129 - 35099888 35103184 - 35099776 35103195 - 6480464 10713127;11042152;11435687;12477932;14702039;15164053;15489334;15592455;16196087;16236267;16533792;16671055;17121834;17342323;17676665;17709317;18267007;18641330;18850735;19322201;19767238;19839737;19944461;20186120;20462248;20877624;21139048;21209152;21220746;21501885;21746876;21832049;21890473;21906983;22081131;22158085;22190034;22268729;22586326;22623988;22939629;22990118;23000965;23028053;23371255;23443559;23667687;23864651;23874603;23918306;24190591;24244333;24258357;24457600;24583282;24816145;8125298 30968 F2Z2I8;Q9UJZ1 AA657517;ABBA01064997;AC004472;AF161458;AF190167;AF282596;AK027405;AK130546;AK223102;AK225114;AK303883;AK307343;AK308552;AL353795;AMYH02019455;AW273545;BC002442;BC003025;BC010152;BC014990;BQ935988;BU528995;BX400542;CH471071;CQ815083;CQ834374;HY039403;HY367065;NM_001287031;NM_001287032;NM_001287033;NM_013442 AAC07983;AAF09142;AAF29073;AAF91466;AAH02442;AAH03025;AAH10152;AAH14990;ABM83603;ABM86846;BAB55091;BAC85377;BAD96822;BAG64819;CAG30023;CAH05402;EAW58394;EAW58395;EAW58396;NP_001273960;NP_001273961;NP_001273962;NP_038470;Q9UJZ1 Hs.3439 1775064;1775727;2132461;2132463;2145215 A002P16;A005W26;G20553;RH41785;RH78365 HSPC108;SLP-2 EPB72-like protein 2;OTTHUMP00000021320;paraprotein target 7;paratarg-7;stomatin-like 2;stomatin-like protein 2;stomatin-like protein 2, mitochondrial protein-coding ENSG00000165283 HGNC:14559 16310 608292 VALIDATED 1604701 STRA8 stimulated by retinoic acid 8 This gene encodes a retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human proteins suggest that these homologs are not entirely functionally equivalent. It is thought that this gene may play a role in spermatogenesis in humans. [provided by RefSeq, Nov 2010] 7 7 7 q33 129654194 129680715 + 134916731 134943244 + 135231979 135258492 + 6480464 12489526;12690205;18316326;18799751;19369649;19734913;20088251;20378615;20670969;23320086 346673 Q7Z7C7 ABBA01001114;ABBA01001115;AC009542;AF513502;AMYH02016815;CH236950;CH471070;NM_182489 AAI41428;AAP47163;BAG73764;EAL24061;EAW83846;NP_872295;Q7Z7C7 Hs.592279 1341361;2173443;7183857 D7S1563;D7S800 OTTHUMP00000207988;stimulated by retinoic acid 8 homolog;stimulated by retinoic acid gene 8 homolog;stimulated by retinoic acid gene 8 protein homolog APPROVED protein-coding ENSG00000146857 HGNC:30653 18123 609987 REVIEWED 1347443 STRA6 stimulated by retinoic acid 6 The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 15 15 15 q24.1 51418988 51448552 - 74471802 74502046 - 74179466 74209705 - 6480464;6484671;6484672;6484694;7240710;8554872;8699517 19700416;21621639;21782034 11256614;11358845;12477932;12975309;14702039;16344560;16712791;17255476;17273977;17503335;18316031;18387951;19112531;19213032;19309693;19500772;20301533;20379614;20625434;21901792;21963094;22283518;22665496;22686418;22826435;23449393;23464991;24223695;24284421;9203140 64220 B3KPB8;B7Z5G7;I3L0M6;I3L1C7;I3L2B6;I3NI08;J3KQI6;Q9BX79 ABBA01060485;AC023545;AF352728;AF352729;AF370419;AK022603;AK056125;AK091152;AK092227;AK291966;AK298921;AK298928;AK299191;AK302932;AK309676;AK310878;AMYH02030788;AY358748;AY359089;BC015881;BC025256;BX537413;CB131492;CH471136;DA700543;DA746408;NG_009207;NM_001142617;NM_001142618;NM_001142619;NM_001142620;NM_001199040;NM_001199041;NM_001199042;NM_022369 AAH15881;AAH25256;AAK30289;AAK30290;AAQ15255;AAQ89108;AAQ89447;BAB14122;BAF84655;BAG51630;BAG52293;BAG52498;BAH12903;BAH12904;BAH12965;BAH13848;CAD97655;EAW99353;EAW99354;EAW99355;EAW99356;NP_001136089;NP_001136090;NP_001136091;NP_001136092;NP_001185969;NP_001185970;NP_001185971;NP_071764;Q9BX79 Hs.24553 2134432;2134521;5015619;5037552 D11S3114;D8S2279;G30105;RH45099 FLJ12541;MCOPCB8;MCOPS9;PP14296 OTTHUMP00000176858;OTTHUMP00000176859;retinol binding protein 4 receptor;stimulated by retinoic acid 6 homolog;stimulated by retinoic acid gene 6 homolog;stimulated by retinoic acid gene 6 protein homolog APPROVED protein-coding ENSG00000137868 HGNC:30650 18122 601186;610745 REVIEWED 4144673 STRADBP1 STE20-related kinase adaptor beta pseudogene 1 7 7 7 q36.1 144766135 144768208 - 150209062 150211135 - 150511974 150514047 - 12690205;9847074 389599 AACC02000108;ABBA01035185;AC092025;AMYH02017058;NG_005932 EAL24480 1676440 RH75579 ALS2CR2P1;STLK6ps1 pseudo HGNC:22478 INFERRED 1606991 STRADA STE20-related kinase adaptor alpha The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009] 17 17 17 q23.3 56168312 56207450 - 61780192 61819330 - 63702832 63741970 - 1600678;6480464;6907045;7240710;8699517;8554872 15509864 12477932;12747765;12805220;14517248;14676191;14702039;14730349;14976552;15183188;15561763;16054041;17921699;18256292;18391951;18687677;18854318;19386264;19513107;19892943;20424326;20562859;21860411;21906983;22833565;24035498;24250222 92335 J3KSA2;J3KSK5;J3QKR7;J3QKU4;J3QQS3;J3QR78;J3QRC1;J3QRH3;J3QS66;Q7RTN6;Q86YC8 ABBA01035323;ABBA01035324;ABBA01035325;AC015651;AC046185;AF308302;AK074771;AK075005;AK128173;AK293160;AK301331;AL832407;AMYH02033776;AMYH02033777;AMYH02033778;AY290821;BC043641;BG339051;BK001542;BQ682133;CH471109;CQ782708;NG_015817;NM_001003786;NM_001003787;NM_001003788;NM_001165969;NM_001165970;NM_153335;XM_005257797;XM_005257798;XM_005257799;XM_005257800;XM_005257801;XM_005257803;XR_243687;XR_243688 AAG48269;AAH43641;AAP42280;BAC11197;BAC11349;BAG56704;BAG62879;CAF85943;CAI46194;DAA01797;EAW94283;EAW94284;EAW94285;EAW94286;EAW94287;EAW94288;EAW94289;EAW94290;NP_001003786;NP_001003787;NP_001003788;NP_001159441;NP_001159442;NP_699166;Q7RTN6;XP_005257854;XP_005257855;XP_005257856;XP_005257857;XP_005257858;XP_005257860 Hs.514402 1664800;1770242;1770244;2118649 A001Z02;G19806;HSC1WH012;SHGC-34035 FLJ90524;LYK5;NY-BR-96;PMSE;STRAD;Stlk STE20-like pseudokinase;STE20-related adapter protein;STE20-related adaptor protein;STE20-related kinase adapter protein alpha;STRAD alpha;protein kinase LYK5;serologically defined breast cancer antigen NY-BR-96 APPROVED protein-coding ENSG00000266173 HGNC:30172 14332 608626;611087 REVIEWED 1350818 STRADB STE20-related kinase adaptor beta This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 2 2 2 q33.1 196068337 196097512 + 202316392 202359501 + 201451669 201480851 + 1580863;6480464;8554872 11161814;12048196;12477932;12574163;14511394;14517248;14676191;14702039;15489334;15815621;16054041;16756488;16879967;18624398;19322201;20467438;20562859 55437 C9JSU7;F8WCQ7;H7C3S5;Q9C0K7 AB038950;ABBA01062541;ABBA01062542;AC007282;AF116618;AK024720;AK027637;AK290457;AMYH02005549;AX883768;AY093697;BC008302;BC090871;BG110753;CH471063;NG_029572;NM_001206864;NM_018571;W74591;XM_005246669;XM_005246670 AAF71042;AAH08302;AAH90871;AAM19143;AAY14692;ABM84614;ABM84615;ABM87518;ABM87864;ABW03586;ABW03587;BAB32500;BAB55254;BAF83146;CAE92102;EAW70273;EAW70274;EAW70275;EAW70276;NP_001193793;NP_061041;Q9C0K7;XP_005246726;XP_005246727 Hs.652338 1676440;1680711;1682896;1695584;1847621;2120480 Bda71b04;G19623;RH66845;RH75579;SHGC-68839;WI-14342 ALS2CR2;CALS-21;MGC102916;PAPK;PRO1038 ILP-interacting protein ILPIPA;ILPIP;ILPIPA;OTTHUMP00000163729;OTTHUMP00000206592;OTTHUMP00000206614;STE20-related kinase adapter protein beta;STRAD beta;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 protein;pseudokinase ALS2CR2 APPROVED protein-coding ENSG00000082146 HGNC:13205 09546 607333 REVIEWED 1321633 STOX1 storkhead box 1 The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 10 10 10 q22.1 63863183 63931097 + 70587294 70655209 + 68827537 68900395 + 6480464;7240710;8554872;8699517 12477932;14702039;15164054;15489334;15806103;16344560;17290274;17617193;18029348;19079545;19577309;20110611;20400461;20643876;20716964;21490791;21755018;21906983;21988832;22253775;22505724;22728895;22993228;22995177 219736 Q6ZVD7 ABBA01019591;ABBA01019592;AK057864;AK057891;AK124681;AK127878;AL359844;AL391539;AMYH02023264;AMYH02023265;AW086180;AY842014;AY842015;AY842016;AY842017;BC063627;BC140011;CH471083;DA118241;DQ099680;KF511103;NG_012975;NM_001130159;NM_001130160;NM_001130161;NM_001130162;NM_152709;XM_006717693;XM_006717694 AAH63627;AAI40012;AAI68379;AAW48524;AAW48525;AAW48526;AAW48527;AAZ07992;BAB71600;BAB71607;BAC85925;BAC87173;EAW54303;NP_001123631;NP_001123632;NP_001123633;NP_001123634;NP_689922;Q6ZVD7;XP_006717756;XP_006717757 Hs.37636 1666101;1720771;1758009;2165602 G59359;SHGC-147108;SHGC-52582;WI-18142 C10orf24;PEE4 OTTHUMP00000178955;OTTHUMP00000178956;OTTHUMP00000197175;OTTHUMP00000197176;chromosome 10 open reading frame 24;storkhead-box protein 1;winged-helix domain-containing protein APPROVED protein-coding ENSG00000165730 HGNC:23508 18579 609397;609404 REVIEWED 1322398 STRAP serine/threonine kinase receptor associated protein ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN maintenance of gastrointestinal epithelium; negative regulation of epithelial cell migration; negative regulation of epithelial cell proliferation; PARTICIPATES IN transforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Adenocarcinoma; Carcinoma, Large Cell; Colorectal Neoplasms; FOUND IN cell junction; cytoplasm; cytosol; INTERACTS WITH arsenous acid; diarsenic trioxide; menadione 12 12 12 p12.3 21180201 21201326 + 16035288 16056412 + 15882354 15903478 + 1581429;6480464;6484113;8554872 16778189 10049359;10646843;10757800;11042152;11230166;11355021;12477932;12975319;15489334;15761148;15761153;15848170;16014633;16159890;16169070;16236267;16251192;16344560;17023415;17314099;17316412;17353931;17916563;17929853;17984321;18029348;18451878;18833288;18984161;19738201;19836239;19880523;19928837;20144149;20360068;21081666;21139048;21148321;21502811;21890473;21906983;21963094;22118674;22190034;22268729;22362889;22797925;22863883;22939629;22990118;23000965;23221635;23254330;23438482;23687415;23918805;23956138;24457600;24654937;9856985 11171 B0AZV0;B4DNJ6;F5H1G1;H0YH33;Q9Y3F4 AB024327;ABBA01067895;AC022073;AF161496;AJ010025;AK297942;AK312295;AK315891;AL136691;AMYH02026104;AY049776;BC000162;BC062306;BT020044;BT020045;CH471094;DA666505;NM_007178;XM_005253294 AAF29111;AAH00162;AAH62306;AAL15433;AAV38847;AAV38848;ABM81877;ABM85039;BAA75544;BAF98782;BAG35222;BAG60258;CAB38041;CAB66626;EAW96356;NP_009109;Q9Y3F4;XP_005253351 Hs.743971 1739159;1740109;1848169 A003B47;D12S1364;D12S1575 MAWD;PT-WD MAP activator with WD repeats;OTTHUMP00000239479;OTTHUMP00000239480;UNRIP;WD-40 repeat protein PT-WD;serine-threonine kinase receptor-associated protein;unr-interacting protein protein-coding ENSG00000023734 HGNC:30796 05816 605986 VALIDATED 2290508 STRCP1 stereocilin pseudogene 1 FOUND IN extracellular region (inferred); INTERACTS WITH paracetamol (ortholog); phenobarbital (ortholog) 15 15 15 q15.3 20779951 20784441 - 43991577 44010460 - 43699379 43718262 - 6480464 12825070 554225 A6NGW2 ABBA01039227;AC011330;AC018512;AMYH02030323;NG_029359 A6NGW2 1654337;1682668;1798892;1799414;1801222;1801296;1801986;1802876;1804096;1805206;1806216;1809362;1811654;1812204;1815582;1816258;1817770;1825312;1825480;1829504;1831452;1833608;1838784;1841178;1842362;1843856;1845674;1855372;1932952;1932954;1932958;1932960;1932962;1932972;1932980;1932982;1932984;1932986;1933188;1933190;1933192;1933194;1933196;1933198;1933200;1933202;1933204;1933206;1933208;1933210;1933212;1933214;1933216;1933218;1933220;1933222;1933224;1933226;1933228;1933230;1933232;1933234;2111260;2113854;2140353;2151961;2157942;2180671;2208894;2208896;2208898;2208902;2208904;2208906;2208908;2208910;2208912;2208914;2208916;2208918;2208920;2208922;2208924;2208926;2208928;2208992;2208994;2208996;2208998;2209000;2209002;2209004;2209006 AB060241;AF021120;Cda0fb12;D15S503;D15S900;ECD00286;ECD00558;ECD01483;ECD01520;ECD01874;ECD02326;ECD02965;ECD03546;ECD04063;ECD05672;ECD06830;ECD07108;ECD08827;ECD09170;ECD09938;ECD13762;ECD13847;ECD15883;ECD16862;ECD17948;ECD20570;ECD21783;ECD22384;ECD23139;ECD24055;REN37308;REN37309;REN37311;REN37312;REN37313;REN37318;REN37322;REN37323;REN37324;REN37325;REN37427;REN37428;REN37429;REN37430;REN37431;REN37432;REN37433;REN37434;REN37435;REN37436;REN37437;REN37438;REN37439;REN37440;REN37441;REN37442;REN37443;REN37444;REN37445;REN37446;REN37447;REN37448;REN37449;REN37450;RH44541;RH68971;SHGC-17612;WI-15193;stSG627804;stSG627805;stSG627806;stSG627809;stSG627810;stSG627811;stSG627812;stSG627813;stSG627814;stSG627815;stSG627816;stSG627817;stSG627818;stSG627819;stSG627820;stSG627821;stSG627822;stSG627881;stSG627882;stSG627883;stSG627884;stSG627885;stSG627886;stSG627889;stSG627890 STRCP APPROVED pseudo HGNC:33915 INFERRED 1342557 STRM striamin 6480464 337940 AF031663 HGNC:13462 1344167 STRC stereocilin This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008] 15 15 15 q15.3 20720867 20723140 + 43891685 44002286 - 43599487 43618800 - 1599186;1580863;6480464;7240710;8699517;8554872 11687802 10090914;12324385;12445334;12477932;14702039;16572171;20301607;20301780;22147502;9429146 161497 E7EPM8;E9PBT5;F5GXA4;H7C0F7;H7C2Q6;Q7RTU9 ABBA01000205;ABBA01049634;ABBA01049635;AC011330;AK090757;AK122814;AK124582;AK126721;AK296993;AK308370;AMYH02030317;BC129931;BC129932;BK000138;CH471308;NG_011636;NM_153700;XM_006720407 AAI29932;AAI29933;BAG59532;DAA00085;EAW50803;NP_714544;Q7RTU9;XP_006720470 Hs.657395 1654337;1682668;1798892;1799414;1801222;1802876;1804096;1805206;1806216;1809362;1811654;1812204;1815582;1816258;1817704;1817770;1825480;1831452;1838784;1841178;1842362;1843856;1845674;1855372;1932952;1932954;1932956;1932958;1932960;1932962;1932964;1932966;1932968;1932970;1932972;1932974;1932976;1932978;1932980;1932982;1932984;1932986;1932988;1933200;1933204;1933210;1933220;1933222;1933224;1933234;2113854;2151961;2180671;2208900;2208910;2208912;2209000;5015961;5016781;5016851;5022578 AB060241;AF021120;Cda0fb12;D15S1477;D15S900;D1S1423;ECD00286;ECD00558;ECD01483;ECD02326;ECD02965;ECD03546;ECD04063;ECD05672;ECD06830;ECD07108;ECD08827;ECD09170;ECD09904;ECD09938;ECD13847;ECD16862;ECD20570;ECD21783;ECD22384;ECD23139;ECD24055;REN37308;REN37309;REN37310;REN37311;REN37312;REN37313;REN37314;REN37315;REN37316;REN37317;REN37318;REN37319;REN37320;REN37321;REN37322;REN37323;REN37324;REN37325;REN37326;REN37433;REN37435;REN37438;REN37443;REN37444;REN37445;REN37450;RH68971;RH80031;SHGC-17612;SHGC-67307;stSG627808;stSG627813;stSG627814;stSG627885 DFNB16;MGC156147 OTTHUMP00000066274 APPROVED protein-coding ENSG00000242866 HGNC:16035 08403 603720;606440 REVIEWED 1352338 STRIP1 striatin interacting protein 1 This gene encodes a member of the striatin-interacting phosphatase and kinase complex, which is involved in localization of the Golgi body. The encoded protein participates in cytosketelal organization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 1 1 1 p13.3 108824240 108844257 + 110574199 110597263 + 110031577 110054641 + 6480464 11214970;12477932;12588993;14702039;15302935;15489334;16710414;16964243;17081983;17353931;18782753;19056867;19156129;19615732;20360068;20467438;21139048;21561862;21834987;21890473;21906983;21963094;21987572;22298706;22782902;22939629;23000965;23277359;24255178 85369 Q5VSL9;Q8WUN4 AB051548;ABBA01068385;AK027649;AK098023;AK125054;AK291059;AL160006;AL772411;AL834196;AMYH02001719;BC019919;BC032644;BC040142;BC067239;BC094786;BC119814;BC121793;CB960147;CH471122;DB460380;KF455004;NM_001270768;NM_033088;NR_073071;XM_006710994;XM_006710995;XR_426636 AAH19919;AAH32644;AAH94786;AAI19815;AAI21794;BAB21852;BAB55265;BAC86034;BAF83748;CAH56368;CAH70967;CAH70968;EAW56428;EAW56429;NP_001257697;NP_149079;Q5VSL9;XP_006711057;XP_006711058 Hs.584996 1644143;1692088;1715231;1715921;2134554;2142005;2184200 AL033684;D1S1844E;D1S2543;RH119866;RH122695;RH47454;SHGC-75284 FAM40A;FAR11A;FLJ14743;KIAA1761;MGC148091;RP4-773N10.1 6330569M22Rik;FAR11 factor arrest 11 homolog A;OTTHUMP00000013366;OTTHUMP00000013367;family with sequence similarity 40, member A;homolog of yeast FAR11 protein 1;hypothetical protein LOC85369;striatin-interacting protein 1 APPROVED protein-coding ENSG00000143093 HGNC:25916 REVIEWED 1344527 STRIP2 striatin interacting protein 2 INVOLVED IN cell migration; cytoskeleton organization; regulation of cell shape; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 7 7 7 q32.1 123871017 123924972 + 129074274 129128240 + 129434433 129488399 + 6480464;8554872 10574461;11076863;12477932;12588993;15489334;15489336;16344560;16381901;18782753;19156129;19615732;21832049;21890473;21963094;22298706;22782902;23000965;23455922;24816145 57464 Q9ULQ0 AB032996;ABBA01057635;AC009244;AK290165;AK302339;AMYH02016732;AMYH02016733;BC019064;CH236950;CH471070;DA409007;NM_001134336;NM_020704;XM_006716069;XM_006716070 AAH19064;BAA86484;BAF82854;BAH13679;CAL37497;CAL37822;CAL37838;CAL38325;EAL24101;EAW83719;EAW83720;NP_001127808;NP_065755;Q9ULQ0;XP_006716132;XP_006716133 Hs.489988 1658119;1668858;1678525;1707530;2136029;2182822 GDB:4585005;GDB:4585689;RH93307;SHGC-32481;SHGC-84574;STS-AA011441 FAM40B;FAR11B FAR11 factor arrest 11 homolog B;OTTHUMP00000212366;OTTHUMP00000212367;family with sequence similarity 40, member B;homolog of yeast FAR11 protein 2;hypothetical protein LOC57464;striatin-interacting protein 2 APPROVED protein-coding ENSG00000128578 HGNC:22209 16880 VALIDATED 736385 STRN striatin, calmodulin binding protein ENCODES a protein that exhibits armadillo repeat domain binding; estrogen receptor binding; protein complex binding; INVOLVED IN negative regulation of cell proliferation; Wnt signaling pathway; dendrite development (ortholog); ASSOCIATED WITH Brain Injuries (ortholog); FOUND IN protein phosphatase type 2A complex; tight junction; dendritic spine (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; atrazine 2 2 2 p22.2 36916520 37034632 - 37064841 37193673 - 36837698 36966530 - 70027;1580863;2311293;6480464;8554872 16351572;8769426 10681496;10748158;11707266;12153137;12477932;15231748;15489334;15569929;15815621;17353931;17540176;17975119;18029348;18502210;18571342;18782753;19023099;19156129;19165527;19322201;19615732;20360068;21139048;21890473;21985334;22889411;22939629;22990118;23277359;23443559;23455922;24255178;24475247;24613930;24816145;9693043 6801 O43815;Q3B874 ABBA01074968;ABBA01074969;ABBA01074970;AC007382;AC007404;AJ223814;AK026934;AK307836;AMYH02003606;AMYH02003607;AMYH02003608;BC015406;BC036416;BC106878;BC106879;CH471053;NM_003162;XM_005264519 AAF66162;AAI06879;AAI06880;AAY24273;CAA11560;EAX00414;NP_003153;O43815;XP_005264576 Hs.127486 1341743;1658934;1662925;1664582;1722547;1740103;1849277;2108537;2116982;2138415;2150951;2156887;5092842 A004G18;A006J38;D2S1654E;D2S2135;D2S2186;G16360;G32364;G60201;RH45772;RH69347;RH69885;SHGC-36905;STRN_8656 MGC125642;SG2NA OTTHUMP00000126951;striatin;striatin, calmodulin-binding protein protein-coding ENSG00000115808 HGNC:11424 18124 614765 VALIDATED 1344174 STSP1 steroid sulfatase (microsomal) pseudogene 1 X Y Y q11 4649180 4649910 + 17659089 17688171 + 15547209 15576291 + 12815422;3203382 6803 ABBA01032018;ABBA01032019;ABBA01032020;AC006382;M23946;NG_001197 1683896;2188477;2188485;2188843;5022885;5115636;5115638 G65853;G66432;G66437;RH38671;STSP-3;STSP-4;STSP-5 STS-Y;STSP APPROVED pseudo HGNC:11426 INFERRED 1342989 STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic) ENCODES a protein that exhibits dolichyl-diphosphooligosaccharide-protein glycotransferase activity; INVOLVED IN co-translational protein modification; protein N-linked glycosylation via asparagine; PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; N-linked glycan biosynthetic pathway; ASSOCIATED WITH Autosomal recessive inheritance (inferred); Cerebellar atrophy (inferred); CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (inferred); FOUND IN membrane; oligosaccharyltransferase complex (ortholog); INTERACTS WITH 2-methylcholine; atrazine; copper(2+) sulfate 11 11 11 q23.3 122623051 122651590 + 125462690 125492654 + 125592795 125622759 + 1300198;1580863;6480464;6907045;8699517;7240710;8554872 8838310 10234787;12477932;12887896;15835887;16169070;16344560;18187620;19167329;19322201;19946888;20301507;20639865;21139048;21520112;21890473;21903422;21906983;21926974;21963094;21987572;22157935;22268729;23000965;23453885;23606741;23842455;24816145;25029371;8634329;8889548;8941377 3703 E9PI32;E9PN73;H0YET6;P46977 ABBA01031239;ABBA01031240;AK130548;AK290040;AK290657;AK295892;AK308902;AMYH02025737;AP001132;AP001494;BC020965;BC048348;BE503634;BM667548;BT007100;BX649102;CH471065;CQ834714;DA577274;L38961;L47337;NM_001278503;NM_001278504;NM_152713 AAB05994;AAH20965;AAH48348;AAL77539;AAP35764;BAF82729;BAF83346;BAG58686;CAH05572;EAW67647;NP_001265432;NP_001265433;NP_689926;P46977 Hs.504237;Hs.659244 1685121;2120380;2120382;2186261;2191169;5111058 A001U15;D11S4593;G19658;MARC_15709-15710:1013524713:1;RH92949;STS-R68805 B5;FLJ27038;ITM1;MGC9042;STT3-A;TMC OTTHUMP00000231293;OTTHUMP00000231294;OTTHUMP00000231295;STT3, subunit of the oligosaccharyltransferase complex, homolog A;STT3A, cataylic subunit of the oligosaccharyltransferase complex;dolichyl-diphosphooligosaccharide protein glycotransferase;dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A;integral membrane protein 1;integral transmembrane protein 1;oligosaccharyl transferase subunit STT3A;transmembrane conserved;transmembrane protein TMC APPROVED protein-coding ENSG00000134910 HGNC:6172 03086 601134;615596 VALIDATED 1315983 STRN4 striatin, calmodulin binding protein 4 ENCODES a protein that exhibits armadillo repeat domain binding; protein complex binding; protein phosphatase 2A binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN protein phosphatase type 2A complex; INTERACTS WITH 2-methylcholine; acetylsalicylic acid; benzo[a]pyrene 19 19 19 q13.2 44026298 44053250 - 47222768 47250251 - 46719511 46746474 - 1580863;6480464;8554872 10748158;11707266;12477932;14702039;15489334;16169070;16344560;17353931;18502210;18758461;18782753;19156129;19615732;19913121;20195357;20332261;20360068;20628086;21890473;22797925;22863883;22939629;22990118;23277359;23443559;23455922;24250222;24255178;24654937;24816145;8125298 29888 F5GYK2;M0QXN2;M0QYS2;M0QZM0;M0R0P4;M0R0W8;M0R2A7;M0R317;Q59GV6;Q9NRL3;R4GN16 AB209003;ABBA01040985;AC008622;AC008635;AF212940;AK056294;AK092913;AK225493;AK297637;AK298804;AK308813;AMYH02036236;AMYH02036237;BC004910;BC014278;BC034604;CH471126;DA510367;NM_001039877;NM_013403;XM_006723171;XM_006723172;XM_006723173;XM_006723174;XM_006723175 AAF29527;AAH04910;AAH34604;BAD92240;BAG51668;BAG60009;BAG60939;EAW57442;EAW57443;NP_001034966;NP_037535;Q9NRL3;XP_006723234;XP_006723235;XP_006723236;XP_006723237;XP_006723238 Hs.631590 2144217;2172008;5022651 A006X06;D11S2921;RH11878 FLJ35594;ZIN striatin-4;zinedin protein-coding ENSG00000090372 HGNC:15721 18125 614767 VALIDATED 737101 STRN3 striatin, calmodulin binding protein 3 ENCODES a protein that exhibits armadillo repeat domain binding; protein complex binding; protein phosphatase 2A binding; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-templated; positive regulation of transcription from RNA polymerase II promoter; FOUND IN cytoplasm; Golgi apparatus; nucleoplasm; INTERACTS WITH 17beta-estradiol; 2-methylcholine; arsenous acid 14 14 14 q13-q21 11228456 11361095 - 31362985 31495607 - 30893779 31026401 - 1580863;6480464 10681496;10748158;11251078;11319234;11570823;12477932;15302935;16344560;16396496;16964243;17353931;17540176;18029348;18434427;18502210;18782753;19156129;19322201;19615732;20360068;21890473;21906983;22863883;22939629;22990118;23000965;23277359;23443559;23455922;23678272;24250222;24255178;24550388;24816145;7864889;7910562 29966 G3V340;G3V3G7;H0YJT2;H0YJZ4;Q13033 AA572712;ABBA01061405;ABBA01061406;ABBA01061407;ABBA01061408;AF243424;AK290229;AK314041;AL049830;AL121808;AMYH02028942;AMYH02028943;AMYH02028944;AMYH02028945;AMYH02028946;AW070834;BC126221;BC132673;BC143933;BG572065;BM453981;CA774504;CH471078;DA854600;NM_001083893;NM_014574;U17989;XM_005267569;XM_005267570 AAB81551;AAF81201;AAI26222;AAI32674;BAF82918;BAG36750;EAW65959;EAW65960;EAW65961;NP_001077362;NP_055389;Q13033;XP_005267626;XP_005267627 Hs.401843 1656037;1670313;1685826;1707036;1731621;1731623;1732719;1769328;2115863;2126162;2145317 D14S175;D14S176;D14S558;D14S569;G35594;G35940;RH47070;RH64942;SGC31556;SHGC-64093;SHGC-81030 SG2NA OTTHUMP00000178783;OTTHUMP00000244078;cell cycle S/G2 nuclear autoantigen;cell cycle autoantigen SG2NA;nuclear autoantigen;s/G2 antigen;striatin-3 protein-coding ENSG00000196792 HGNC:15720 11613 614766 VALIDATED 1606939 STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic) The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014] 3 3 3 p23 31512441 31615151 + 31574130 31677556 + 31532638 31637622 + 6480464;6907045;8699517;7240710;8554872 12439619;12477932;12887896;14702039;15489334;15835887;16303743;17081983;18029348;19167329;19946888;20301507;20379614;21139048;21693764;21857022;21903422;21906983;21963094;22268729;22505724;22607976;22939629;23530066;23606741;23842455;24347629;24816145;25029371 201595 Q8TCJ2 ABBA01024954;AC104643;AI914841;AK027789;AK074587;AK075380;AK311488;AMYH02006484;AX799082;AY074880;BC015880;CH471055;CQ782554;HY015137;HY039873;NG_034164;NM_178862;XM_006713017 AAH15880;AAL71884;BAB55370;BAC11581;CAE48447;CAF85831;EAW64415;EAW64416;NP_849193;Q8TCJ2;XP_006713080 Hs.475812 1682081;1697304;1699352;1706970;2127447;5015861;7185938 D10S16;RH102149;RH103263;RH92648;SHGC-80983;STS-AA032256 CDG1X;FLJ90106;SIMP;STT3-B OTTHUMP00000161258;STT3, subunit of the oligosaccharyltransferase complex, homolog B;dolichyl-diphosphooligosaccharide protein glycotransferase;dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B;homolog of yeast STT3;oligosaccharyl transferase subunit STT3B;source of immunodominant MHC associated peptides;source of immunodominant MHC-associated peptides homolog APPROVED protein-coding ENSG00000163527 HGNC:30611 12268 608605;615597 REVIEWED 1352738 STRBP spermatid perinuclear RNA binding protein ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cellular component movement (inferred); mechanosensory behavior (inferred); multicellular organismal development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid 9 9 9 q33.3 96532171 96615626 - 125878338 126030855 - 123120579 123268576 - 1580863;6480464;8554872 10684936;11076863;11230166;11256614;11336498;12477932;14702039;15164053;15489334;15489336;16189514;16381901;19001729;21145461;21890473;21988832;22178446;22391137;22586326;22751105;22939629;24332808;24457600;24778252;24816145;7519613;7744952;9674995 55342 E9PKQ0;H0YC91;H0YD00;H0YD70;Q5JPA5;Q96SI9;V9HWK4 ABBA01043719;ABBA01043720;ABBA01043721;ABBA01043722;AF333337;AI986141;AK002169;AK024285;AK025613;AK027890;AL136866;AL365338;AL365504;AL833947;AL834150;AMYH02021601;AMYH02021602;AMYH02021603;AMYH02021604;AMYH02021605;AMYH02021606;AMYH02021607;AMYH02021608;AMYH02021609;AX405805;AX883413;BC002693;BC017732;BC108731;CH471090;EU794683;NM_001171137;NM_018387;NR_033234;XM_005252083;XM_005252085;XR_242594 AAH02693;AAH17732;AAI08732;AAK20832;ACJ13737;BAA92120;BAB14873;BAB55434;CAB66800;CAD34912;CAE91964;CAI46213;CAI46219;CAL37906;EAW87563;EAW87564;EAW87565;EAW87566;NP_001164608;NP_060857;Q96SI9;XP_005252140;XP_005252142 Hs.287659;Hs.694157 1671298;1697930;1787174;2146824 D9S1995;RH102494;SHGC-172283;SHGC-34779 DKFZp434N214;FLJ11307;FLJ14223;FLJ14984;FLJ21960;HEL162;ILF3L;MGC21529;MGC3405;SPNR;p74 OTTHUMP00000022084;OTTHUMP00000022085;epididymis luminal protein 162;interleukin enhancer binding factor 3-like;spermatid perinuclear RNA-binding protein protein-coding ENSG00000165209 HGNC:16462 10257 611138 VALIDATED 735809 STS steroid sulfatase (microsomal), isozyme S The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to estrogens during pregnancy. The encoded protein is found in the endoplasmic reticulum, where it acts as a homodimer. Mutations in this gene are known to cause X-linked ichthyosis (XLI). [provided by RefSeq, Jul 2008] X X X p22.32 11363616 11498571 + 7065298 7272682 + 7147893 7354641 + 1601393;1601402;1300048;1580863;6480464;6893583;6907045;7240710;8554872;8699517 21693170;2576297;8539776 10679952;10692123;10844566;11844872;11886493;11996939;12231117;12477932;12657638;14507642;14556660;14969586;15009711;15056284;15152080;15302278;15355916;1539590;15489334;15962010;16084891;16344560;16399357;16467490;16556483;16837617;17415442;17426092;17454161;17481887;17596930;17601726;18180093;18249534;18343103;18413370;18467089;18723074;18817841;18937300;19124506;19200188;19347708;19429462;19453261;19551860;19598235;20149601;20151319;20214802;20236202;2065092;20814163;20862695;21073915;21255266;21530180;21945601;23122578;23807007;23861462;23916543;24055520;24081738;2668275;2765556;2813406;3032454;3034252;3165728;3203382;3464600;3471087;6948769;6957717;8889548;9252398 412 P08842;Q0W975 ABBA01029224;ABBA01029225;ABBA01029226;ABBA01029227;ABBA01029228;ABBA01029229;ABBA01029230;ABBA01029231;ABBA01029232;ABBA01029233;ABBA01029234;AC005704;AC073583;AC112651;AK314034;AL133910;AM072428;AM072429;AM282551;AM282552;AM282553;AM282554;AMYH02038812;AMYH02038813;AU135967;AU137602;AU137974;AU138059;BC075030;BF194867;CB250477;CH471074;DQ851171;FM209047;H00840;J04964;M16505;M17591;M23556;M23945;NG_021472;NM_000351;XM_005274511;XM_006724488 AAA60596;AAA60597;AAA60598;AAA60599;AAH75030;ABI30349;BAG36744;CAJ21479;CAJ21480;CAK54338;CAK54339;CAK54340;CAK54341;CAR64266;EAW98749;NP_000342;P08842;XP_005274568;XP_006724551 Hs.522578;Hs.700558;Hs.700559;Hs.740067 1648716;1656902;1702468;1702944;1714825;1728905;1733438;1740315;1740317;1753305;1787334;1857795;2116315;2117556;2145199;2161154 DXS6767;DXS7434E;DXS7500;DXS7964;DXS7965;G42690;GDB:187673;GDB:293965;RH120079;RH36507;SHGC-154461;SHGC-81735;STS-M16505;STS-N23221;STS-R67209;WI-14685 ARSC;ARSC1;ASC;ES;SSDD;XLI OTTHUMP00000022868;arylsulfatase C;estrone sulfatase;steroid sulfatase;steryl-sulfatase;steryl-sulfate sulfohydrolase APPROVED protein-coding ENSG00000101846 HGNC:11425 02389 300747;308100 REVIEWED 1353548 STX10 syntaxin 10 This gene belongs to the syntaxin family and encodes a soluble N-ethylmaleimide sensitive factor attachment protein receptor (SNARE). The encoded protein is involved in docking and fusion events at the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 19 19 19 p13.2 13145623 13151385 - 13254872 13261188 - 13144058 13150374 - 1580863;6480464 10080545;12477932;15489334;15878329;16154903;16341674;18195106;21139048;22145905;24816145;9446797 8677 F6RTM7;K7EIY4;K7EJ05;K7EK75;K7ELY2;K7EPP9;K7EQ84;O60499;Q5U8S2;X6R2W0 ABBA01029753;AC011446;AF035531;AMYH02035569;AY778966;BC017237;BC095459;BM830816;BM847745;CD364936;CH471106;CR457110;NM_001271609;NM_001271610;NM_001271611;NM_003765 AAC05087;AAH17237;AAV48594;CAG33391;EAW84356;EAW84357;NP_001258538;NP_001258539;NP_001258540;NP_003756;O60499 Hs.43812 2110927;2144724;5125009 D19S383E;RH99286;STS-N26520 SYN10;hsyn10 syntaxin-10 protein-coding ENSG00000104915 HGNC:11428 04791 603765 REVIEWED 5133079 STX16-NPEPL1 STX16-NPEPL1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring syntaxin 16 (STX16) and aminopeptidase-like 1 (NPEPL1) genes on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011] 20 20 q 57226309 57290900 + 58651253 58715844 + 6480464;8554872 20967262 100534593 H3BU86 AB209296;ABBA01005970;ABBA01005971;ABBA01005972;ABBA01005973;ABBA01005974;ABBA01005975;AL050327;AL139349;AMYH02037367;AMYH02037368;AMYH02037369;AMYH02037370;AMYH02037371;KF456959;KF456966;NR_037945 BAD92533 Hs.654868 APPROVED ncrna ENSG00000254995 HGNC:41993 VALIDATED 8699425 STX17-AS1 STX17 antisense RNA 1 9 9 9 q31.1 73162009 73182746 - 102648599 102668883 - 99886317 99906601 - 11329013;12477932 441461 ABBA01042894;AL358937;AMYH02021333;BC030123;BG460404;HG502314;NR_038853 Hs.163155 ncrna ENSG00000255145 HGNC:51174 VALIDATED 1319758 STX16 syntaxin 16 This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011] 20 20 20 q13.32 53966805 53995061 + 57226309 57254582 + 58651253 58679526 + 1580863;6480464;7240710;8699517;8554872 11483580;11780052;11839770;12110575;12477932;14671302;15215310;15231748;15489334;15800843;17389686;17852734;18029348;18195106;19620288;19887622;19916794;20061437;20589833;20826815;20838585;21062889;21223469;21906983;22053931;23087324;23095209;23677696;24109596;9464276;9587053 8675 B4DJX9;B7ZBM4;B7ZBM5;B7ZBM8;C9K0W8;E9PLV7;E9PND6;F8W9Z6;G8JLE0;H0YEW0;O14662;Q96NX8 AA256337;ABBA01005975;AF008935;AF008936;AF008937;AF038897;AF305817;AF428146;AI570829;AK026970;AK026974;AK296282;AK304867;AK316547;AL050327;AL139349;AMYH02037367;AY414339;BC019042;BC073876;BQ229292;BU844520;BU844980;BX396221;BX537977;CA427122;CF594260;CH471077;DC424825;DQ272217;KF456959;KF456966;NG_011831;NM_001001433;NM_001134772;NM_001134773;NM_001204868;NM_003763;NR_037941;NR_037942;NR_037943 AAB69282;AAB69283;AAB69284;AAC05647;AAH19042;AAH73876;AAK55520;AAL25100;BAG58991;BAG65605;BAH14918;EAW75481;EAW75482;EAW75483;EAW75484;EAW75485;EAW75486;EAW75487;NP_001001433;NP_001128244;NP_001128245;NP_001191797;NP_003754;O14662 Hs.307913 1700876;1793362;2108539;2116812;2125872;2152735;2159754;2180710;2184679;5015861;5022425;5022576;5024039;5037552;5093508;5109281;7185938 A009Q02;D10S16;D16S325;D1S1361;D1S1425;D20S496;D22S296;D8S2279;G32759;PMC213493P1;RH104064;RH16472;RH64145;RH69331;STS-H63081;STX16_8844 MGC90328;SYN16;hsyn16 OTTHUMP00000031789;OTTHUMP00000031790;OTTHUMP00000031792;OTTHUMP00000174361;OTTHUMP00000174364;OTTHUMP00000174365;OTTHUMP00000236434;syntaxin-16 APPROVED protein-coding ENSG00000124222 HGNC:11431 04718 603233;603666 REVIEWED 1352651 STX17 syntaxin 17 ENCODES a protein that exhibits protein phosphatase binding; SNAP receptor activity; SNARE binding; INVOLVED IN autophagic vacuole fusion; endoplasmic reticulum-Golgi intermediate compartment organization; ER to Golgi vesicle-mediated transport; FOUND IN autophagic vacuole membrane; endoplasmic reticulum membrane; endoplasmic reticulum-Golgi intermediate compartment; INTERACTS WITH (-)-epigallocatechin 3-gallate; coumestrol; potassium chromate 9 9 9 q31.1 73182319 73250212 + 102668915 102736818 + 99906633 99974536 + 1299477;1580863;6480464 9852078 10930465;12477932;14702039;18029348;19209086;20596022;21139048;21545355;21890473;23217709;24250222;24816145;9094723 55014 E9PIC2;E9PJV6;E9PJW1;E9PQU9;P56962 ABBA01042894;AI375996;AK000658;AK095262;AK124662;AK295949;AK311412;AL358937;AL833620;AL834371;AMYH02021333;BC051790;BC070269;BC101564;BC101566;BC111009;BC143430;CH471105;DC318495;NM_017919 AAH70269;AAI01565;AAI01567;AAI11010;BAA91311;BAG53017;BAG58731;CAD39034;EAW58920;NP_060389;P56962 Hs.704031 1679195;1691278;1773117;1852659;2109903;2176707;2177941;5015609;5016403;5022637;5118147;5118412 D11S2766;D11S3017;D11S3026;D11S3270;G02304;G29237;RH47955;RH80962;RH93873;STS-F10187;STS-T98624;STX17_9865 FLJ20651;MGC102796;MGC126613;MGC126615 OTTHUMP00000021787;OTTHUMP00000232284;OTTHUMP00000232285;syntaxin-17 protein-coding HGNC:11432 05013 604204 VALIDATED 1320740 STX18 syntaxin 18 ENCODES a protein that exhibits protein domain specific binding (inferred); SNAP receptor activity (inferred); INVOLVED IN ER to Golgi vesicle-mediated transport (inferred); intracellular protein transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum (inferred); Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; hydrogen peroxide 4 4 4 p16.3-p16.2 4318693 4440967 - 4420695 4543775 - 4418968 4542048 - 1580863;6480464;8554872 10788491;12477932;15029241;15272311;15489334;16169070;16571679;17043677;18722709;19401338;20087401;20634891;21139048;21906983;21963094;23708191;24250222;24816145 53407 D6RC71;D6RD65;D6RF48;H0YAL4;Q9P2W9 AB028741;ABBA01008245;ABBA01008246;AC013725;AC110814;AK310026;AL832867;AMYH02008642;AMYH02008643;AMYH02008644;AY453396;BC014613;BC071980;BG771856;BT007150;BT020135;BX647083;CH471131;NM_016930;XM_005247972;XM_005247973;XR_241651 AAH14613;AAP35814;AAS47513;AAV38937;BAA95213;EAW82427;EAW82428;EAW82429;NP_058626;Q9P2W9;XP_005248029;XP_005248030 Hs.584913 1747591;1770489;1774613;2130406;2132726;2133930;2156169;2171808;2177217;2177681;2219728 D4S1275;D4S2703;G65528;SHGC-30353;SHGC-50656;SHGC-50981;SHGC-67907;STS-D51228;STX18__5346;WI-17747;WIAF-2557 DKFZp686O15149;Ufe1 OTTHUMP00000115383;OTTHUMP00000217182;cell growth-inhibiting gene 9 protein;syntaxin-18 protein-coding ENSG00000168818 HGNC:15942 06923 606046 VALIDATED 6484040 STX18P1 syntaxin 18 pseudogene 1 17 17 17 25256021 25257021 + 28395650 28396649 + 30068632 30069631 + 100418889 ABBA01015005;AC104996;AMYH02033266;NG_026236 pseudo HGNC:43995 INFERRED 737034 STX12 syntaxin 12 INVOLVED IN cholesterol efflux; protein stabilization; FOUND IN BLOC-1 complex; extracellular vesicular exosome; membrane raft; INTERACTS WITH (-)-demecolcine; 2-methylcholine; atrazine 1 1 1 p35.3 26495339 26546590 + 28099694 28150963 + 27773183 27824452 + 634081;1580863;6480464 9507000 10458612;10610180;10833436;10886332;11936273;12070131;12191018;12477932;12847087;14702039;15469992;15489334;17081983;17207965;17255364;19322201;19546860;19910495;20562859;21139048;21674799;21890473;21906983;22053931;22939629;24250222;24816145;25015289;8619474;9110174;9553086;9817754;9852078 23673 B1AJQ6;Q86Y82 ABBA01034990;ABBA01034991;ABBA01034992;ABBA01034993;ABBA01034994;AF070635;AF123769;AK095898;AK297585;AK299982;AK309990;AK315880;AL020997;AL035306;AMYH02000609;BC046999;BM148993;CH471059;CR407620;NM_177424 AAH46999;AAP97248;ADQ33101;BAF98771;BAG59973;BAG61803;CAA22911;CAG28548;EAX07738;EAX07739;NP_803173;Q86Y82 Hs.523855 1336953;1673848;1680781;1732970;2116274;2132932;2157476;2158198;2173244 D1S1354;D1S1976E;D1S2200;D1S2787;RH92348;SHGC-74450;SHGC-74451;SHGC-74518;SHGC-8608 MGC51957;STX13;STX14 OTTHUMP00000003845;OTTHUMP00000003846;syntaxin-12 protein-coding ENSG00000117758 HGNC:11430 06059 606892 VALIDATED 1312365 STX11 syntaxin 11 This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008] 6 6 6 q24.2 145212022 145253445 + 144461770 144513076 + 144150440 144191939 + 634082;1580863;6480464;7240710;8554872;8699517 9553086 10036234;10080545;11046156;12477932;15489334;15703195;16169070;16180048;16189514;16278825;17525286;17785771;18029348;18710388;19169743;19259622;19322201;19804848;19967551;20301617;20379614;20486178;21298754;21342435;21674762;21832049;21900206;21988832;22767500;22797925;23160464;23455924;24227526;24722188;9571206 8676 O75558 ABBA01025740;ABBA01025741;AF038898;AF044309;AF071504;AI791689;AJ012501;AJ012506;AL135917;AL512354;AMYH02014642;BC033519;BF941242;BM150302;BQ030324;CH471051;CR739089;NG_007613;NM_003764;XM_005267189;XM_006715588 AAC24004;AAC24031;AAD02107;AAH33519;EAW47849;EAW47850;NP_003755;O75558;XP_005267246;XP_006715651 Hs.118958 1661494;1687399;1771849 RH37559;RH93390;STS-R66896 FHL4;HLH4;HPLH4 OTTHUMP00000017349;syntaxin-11 APPROVED protein-coding HGNC:11429 09231 603552;605014 REVIEWED 1605776 STX19 syntaxin 19 ENCODES a protein that exhibits SNAP receptor activity (inferred); INVOLVED IN intracellular protein transport (inferred); vesicle-mediated transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH thioacetamide (ortholog) 3 3 3 q11 92116939 92131179 - 93733078 93747460 - 94014234 94028616 - 6480464 12477932;15489334;23455924;24722188 415117 Q8N4C7 ABBA01026971;AC117474;AC130896;AC245469;AF461456;BC034696;CH471052;NG_017076;NM_001001850;XM_005247455;XM_005247456 AAH34696;AAQ04780;EAW79902;NP_001001850;Q8N4C7;XP_005247512;XP_005247513 Hs.679768 MGC21382 OTTHUMP00000213862;syntaxin-19 protein-coding ENSG00000178750 HGNC:19300 14477 VALIDATED 1350789 STX1B1 syntaxin 1B1 1580863 8105537;8884284 6805 Q15531 D37933 HGNC:11434 1314629 STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014] 16 16 16 p13.3 930272 932925 + 730115 732768 + 680115 682768 + 6480464;6907045;8699517 10330192;11146632;11146634;11157797;11557750;11676916;11743028;11805346;12150907;12200376;12239347;12477932;12559985;12574167;12832480;12837759;14532117;14532270;14612456;14701756;14962978;15001357;15046863;15107424;15189447;15198682;15215316;15254225;15302935;15358145;15447663;15456869;15466472;15489334;15525661;15538384;15611333;15694383;15708501;15761032;15761153;15781469;15845543;15911628;15936278;16037132;16038411;16111477;16135753;16169070;16169850;16207813;16275660;16280320;16293251;16307917;16554822;16621797;16682404;16712791;16714300;16720573;16725394;16740632;16809764;16831871;16895519;16964243;17081983;17127076;17157513;17178836;17209571;17239458;17304350;17317785;17324930;17512523;17545168;17595347;17666403;17873020;17875712;17962192;17963781;18042044;18094050;18223694;18292230;18313385;18388150;18411298;18436529;18457437;18485199;18541707;18655187;18678647;18718056;18784277;18818696;18955503;18988734;19011619;19056735;19098309;19103148;19153604;19165527;19196961;19198599;19237536;19240029;19306926;19362296;19406989;19465479;19471022;19478201;19483080;19524548;19536328;19648119;19706771;19713937;19818709;19875381;19892702;19913553;19940151;20029029;20146531;20151404;20349136;20413784;20466727;20588253;20618441;20661446;20675402;20677910;20704274;20724525;20729196;20811636;20924358;20943656;20947504;20947508;20959453;20974249;20974815;21044950;21124777;21139048;21157430;21209460;21220432;21268072;21272160;21293491;21325980;21358815;21360678;21454478;21478269;21518764;21549100;21625540;21652633;21710689;21767636;21775628;21793045;21855799;21860411;21898230;21911421;21942715;21988832;21995445;22038067;22090276;22101235;22118674;22128174;22190034;22190037;22254155;22271573;22350907;22350919;22407479;22427670;22433856;22492994;22535373;22543587;22551455;22669480;22670667;22734001;22824801;22842904;22863883;22895543;22939629;23023377;23109339;23134341;23237806;23246967;23256568;23271055;23322406;23344957;23410750;23412384;23429937;23431407;23455922;23482560;23493285;23554879;23560854;23602568;23625928;23629654;23679257;23686137;23729439;23764847;23851495;23865999;23880665;23904609;23963841;23973223;23990462;24023840;24043303;24100225;24113144;24250222;24251647;24293411;24302614;24312598;24337577;24370685;24376685;24509416;24578159;24613385;24651434;24661873;24719489;24722501;24742043;24778252;24811749;24816145;24912674;25036637;9610721 10273 H3BS86;H3BTA3;H3BUD0;Q9UNE7;V9GYH3 ABBA01030356;ABBA01030357;AE006464;AF039689;AF129085;AF217968;AF432221;AMYH02031202;BC007545;BC017178;BC022788;BC063617;CB145452;CH471112;FB775518;NG_034141;NM_001293197;NM_005861;Z92544 AAC18038;AAD33400;AAG17211;AAH07545;AAH17178;AAH22788;AAH63617;AAK61242;AAL99927;ABM84111;ABM87501;CAV30716;EAW85756;EAW85757;EAW85758;NP_001280126;NP_005852;Q9UNE7 Hs.592081 1680637;2132198 IB740;RH15604 CHIP;HSPABP2;NY-CO-7;SCAR16;SDCCAG7;UBOX1 CLL-associated antigen KW-8;E3 ubiquitin-protein ligase CHIP;OTTHUMP00000149944;STIP1 homology and U box-containing protein 1;antigen NY-CO-7;carboxy terminus of Hsp70-interacting protein;heat shock protein A binding protein 2 (c-terminal);serologically defined colon cancer antigen 7 APPROVED protein-coding ENSG00000103266 HGNC:11427 06232 607207;615768 REVIEWED 736110 STX1B syntaxin 1B Syntaxins are cellular receptors for transport vesicles (see MIM 603765). One of these proteins, designated syntaxin 1B (STX1B), is directly implicated in the process of calcium-dependent synaptic transmission in rat brain (Smirnova et al., 1993 [PubMed 8105537]). The expression of this protein is transiently induced by long-term potentiation of synaptic responses in the rat hippocampus. The protein may play an important role in the excitatory pathway of synaptic transmission, which is known to be implicated in several neurologic diseases.[supplied by OMIM, Nov 2010] 16 16 16 p11.2 29275546 29296879 + 31000577 31021829 - 30989256 31010508 - 6480464 11112705;12093152;12477932;12651853;15489334;17500595;18691641;21139048;22360420;24885147;8105537;8884284;8999968 112755 H3BT82;P61266 ABBA01042073;ABBA01042074;AC135048;AC135050;AMYH02031838;AY028792;AY203924;AY995211;BC038359;BC062298;BX102270;CH471192;NM_052874 AAH62298;AAK27267;AAP34447;AAY45889;EAW52178;NP_443106;P61266 Hs.542230 1678255;1682465;1684435;1685219;5022578 D1S1423;RH12292;RH28513;RH70099;RH78319 STX1B1;STX1B2 FP17469;OTTHUMP00000163224;syntaxin 1B1;syntaxin 1B2;syntaxin-1B;syntaxin-1B1;syntaxin-1B2 APPROVED protein-coding ENSG00000099365 HGNC:18539 18126 601485 VALIDATED 7247072 STX18-AS1 STX18 antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 4 4441050 4609736 + 4543858 4712665 + 4542131 4710938 + 8554872 16344560;22952603;23708191 100507266 ABBA01008246;ABBA01008247;ABBA01008248;ABBA01008249;ABBA01008250;AC013725;AC109359;AMYH02008644;AMYH02008645;AMYH02008646;AMYH02008647;BC025734;DA139592;HG496692;NR_037888 Hs.276795 RP11-323F5.2 ncrna ENSG00000247708 HGNC:48877 VALIDATED 732157 STX2 syntaxin 2 The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 12 12 12 q24.33 130887358 130937200 - 131274145 131323819 - 130789600 130839274 - 728629;1580863;6480464 8938452 10397765;10777504;12198139;12477932;12651853;12773094;12828989;15146197;15489334;15651999;1581962;15943887;16339081;17485553;18273050;19129200;19322201;21156930;21906983;22045676;22792389;23219092;24039787;24250222;24578379;7768895;7791877;8466509;8549663;8619474;8663154;8999968;9045631;9110174;9168999;9177305;9425164 2054 J3KNU7;P32856 ABBA01019820;ABBA01019821;ABBA01019822;AC073912;AF052181;AMYH02027558;AMYH02027559;BC047496;CD300217;CH471054;CN418753;D14582;DB474363;NM_001980;NM_194356;XM_005253556;XM_005253557;XM_006719276 AAH47496;BAA03436;EAW98513;EAW98514;NP_001971;NP_919337;P32856;XP_005253613;XP_005253614;XP_006719339 Hs.437585 1723189;2128327;2144200;2166037;2170346;5014740;5022578;5109663;5111083 D17S610;D1S1423;D6S1152E;D7S2067E;RH121436;RH68574;STS-D14582;WI-12272;WIAF-2148 EPIM;EPM;MGC51014;STX2A;STX2B;STX2C OTTHUMP00000238636;OTTHUMP00000238637;epimorphin;syntaxin-2 APPROVED protein-coding ENSG00000111450 HGNC:3403 11816 132350 REVIEWED 737314 STX7 syntaxin 7 ENCODES a protein that exhibits SNARE binding; INVOLVED IN post-Golgi vesicle-mediated transport (inferred); FOUND IN extracellular vesicular exosome; intracellular membrane-bounded organelle; lysosomal membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; ciglitazone 6 6 6 q23.1 133525518 133581174 - 132778663 132834337 - 132457524 132513198 - 1580863;6480464 10564279;10692457;10839363;10982406;11031247;11101518;11252894;11278762;11382755;11423532;11591653;11786915;12114520;12175335;12218144;12477932;12543931;12665801;12730232;14574404;14623309;15345747;15489334;16344560;17255364;17897319;18029348;18198266;18570918;18980942;19322201;19714869;20170677;20562859;21139048;21438968;21890473;21900206;22053931;22939629;23000965;23246001;23434281;24173214;24250222;8619474;9110174;9358037;9417091;9852078 8417 B4DH37;O15400 ABBA01025879;AF131808;AJ420529;AK294911;AK301464;AL357034;AL589691;AMYH02014501;AW500305;BC011975;BF064142;CH471051;DA242979;KF458280;NM_003569;U77942 AAC51851;AAH11975;BAG57998;BAG62984;EAW48029;EAW48030;NP_003560;O15400 Hs.593148;Hs.605992 1671620;1686056;1688506;1699496;1716297;1732656;1774038;1787354;1855825;2170774;2176178;2179593;5017291;5093404;5121411 A009O06;D6S2191;D6S957;G28630;G32698;RH103341;RH121178;RH12578;RH46764;RH46806;RH92707;RH93946;SHGC-155523;STS-W94888;WI-17521 OTTHUMP00000017219;OTTHUMP00000017220;OTTHUMP00000017221;syntaxin-7 protein-coding HGNC:11442 04449 603217 VALIDATED 69485 STX1A syntaxin 1A (brain) This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 7 7 7 q11.23 68591739 68612223 - 73113535 73134032 - 73699205 73719702 - 1581432;1581434;1580863;2311087;6480464;8554872 10842016;11345516;19295123 10080545;10099709;10100611;10194441;10195194;10321247;10373452;10397765;10409621;10449403;10468580;10675364;10707983;10722844;10746715;10844023;10891589;10954418;11017172;11101518;11112705;11438522;11438523;11509230;11524423;11719842;11832227;11845306;11884041;11960023;12093152;12101244;12114505;12115694;12121982;12130530;12145319;12175857;12198139;12200427;12209004;12403834;12446681;12477932;12519779;12558796;12562778;12586365;12590134;12629174;12651853;12730201;12828989;12832401;12853575;12853948;12963086;1315316;1321498;14623309;14996668;15175344;15184072;15202772;15219469;15276154;15316009;15339904;15459722;15489334;15537656;15563604;15778713;15822905;16169070;16344560;16672225;16722236;17032905;17200691;17264080;17274640;17363971;17456438;17500595;17506992;17543282;17912268;18065728;18457912;18512733;18593506;18617632;19004828;19129200;19368856;19546860;19557857;19578796;20385907;20422020;20471030;20489724;20564318;21118708;21173146;21669024;21789195;21916482;21976501;22130660;22250207;22264512;22360420;22404429;22411134;22571925;22791290;23242284;23403573;23572023;23801330;23858467;24164654;24218570;24250222;24375629;24429282;24722188;24885147;7553862;7622072;7622514;7768895;7791877;7961655;8108429;8611567;8663154;8999968;9003414;9010211;9030619;9045631;9067339;9168999;9177791;9311751;9384384;9395480;9478941;9556632;9620695;9697855;9698305;9852078;9930733 6804 A8MZ54;Q16623;Q75ME0 AB086954;ABBA01063942;AC073846;AI951874;AK299959;AK313980;AMYH02016029;BC000444;BC003011;BC064644;CH471200;CR457018;D37932;DA159446;KJ534952;KJ534980;L37792;NG_013360;NM_001165903;NM_004603;U12918;U87315;XM_005250552;XR_242263 AAA20940;AAA53519;AAB65500;AAH03011;AAH64644;AAK54507;AAS07469;AAS07470;ACT64425;ACT64426;AHW56592;AHW56620;BAA07151;BAC78519;BAG36694;BAG61785;CAG33299;EAW69649;EAW69650;EAW69651;EAW69652;EAW69653;EAW69654;EAW69655;NP_001159375;NP_004594;Q16623;XP_005250609 Hs.647024 1654510;1700118;1796892;1851753;2143690;5491469 D7S2927;MARC_14487-14488:1010605685:1;RH103672;RH78389;STS-L37792;STX1A_264 HPC-1;P35-1;STX1;SYN1A OTTHUMP00000174615;OTTHUMP00000174616;OTTHUMP00000174617;OTTHUMP00000174618;neuron-specific antigen HPC-1;syntaxin 1a;syntaxin-1A APPROVED protein-coding ENSG00000106089 HGNC:11433 01721 186590 REVIEWED 731983 STX6 syntaxin 6 INVOLVED IN retrograde transport, endosome to Golgi; vesicle fusion; FOUND IN early endosome; Golgi apparatus; perinuclear region of cytoplasm; INTERACTS WITH (-)-demecolcine; aflatoxin B1; cobalt dichloride 1 1 1 q25.3 154049189 154099059 - 180942164 180992074 - 180972712 181023121 - 1580863;6480464 10080545;10359608;10506127;10839363;11001914;11278762;11384996;11423532;11707463;11839770;12477932;12853575;14623309;14702039;15322554;15489334;15689499;16344560;16710414;18779328;19224922;19620288;20130090;20562859;20685960;21063020;21109560;21139048;21685912;21807881;21880737;21890473;21906983;21963094;22489884;22573826;22939629;23000965;23415606;23585472;23677696;23798538;23818989;23932592;24816145;8619474;8663448;9110174;9697774;9880331 10228 O43752 ABBA01027786;ABBA01027787;AF038202;AJ002078;AK056657;AK299063;AK312440;AL162431;AL356267;AMYH02002254;BC009944;BC039118;BU902578;CH471067;CR541856;CR541873;DA311923;NM_001286210;NM_005819;XM_005244824 AAH09944;ABM82858;ABM86045;BAB71242;BAG35349;BAG61129;CAA05177;CAG46654;CAG46671;EAW91091;EAW91092;EAW91093;NP_001273139;NP_005810;O43752;XP_005244881 Hs.518417;Hs.737037 1653495;1848307;2108541;5109281 D1S1425;SHGC-76006;SHGC-76008;STX6_9068 OTTHUMP00000033134;syntaxin-6 protein-coding ENSG00000135823 HGNC:11441 07231 603944 VALIDATED 731411 STX8 syntaxin 8 The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 17 17 17 p12 9185566 9511610 - 9153788 9479275 - 9250471 9575958 - 1299477;1580863;6480464;8554872 9852078 10198254;10564279;10683148;10781590;10839363;11101518;12175335;12388752;12477932;14623309;14991845;15039462;15489334;15761153;15840729;16169070;16189514;17965969;18029348;18570918;18821010;18980942;19174780;19422935;19850743;20379614;20562859;20886065;21139048;21674799;21890473;21906983;22053931;22721673;22875976;23000965;23142642;24659781;24816145 9482 I3L305;I3L3D0;K7EQB1;K7ER37;Q9UNK0 ABBA01054941;ABBA01054942;ABBA01054943;ABBA01054944;ABBA01054945;ABBA01054946;ABBA01054947;ABBA01054948;ABBA01054949;ABBA01054950;ABBA01054951;ABBA01054952;ABBA01054953;ABBA01054954;ABBA01054955;ABBA01054956;AC005695;AC009335;AC087501;AF036715;AF062077;AF115323;AMYH02032940;AMYH02032941;AMYH02032942;AMYH02032943;AMYH02032944;AMYH02032945;AMYH02032946;AMYH02032947;AMYH02032948;AMYH02032949;AMYH02032950;AMYH02032951;AMYH02032952;BC009713;BC020924;BT007319;BU596252;CH471108;KF456250;NM_004853;NR_033656 AAC36466;AAC95285;AAD20831;AAH09713;AAP35983;ABM81911;ABM85087;EAW90028;EAW90029;EAW90030;EAW90031;NP_004844;Q9UNK0 Hs.431109 1335990;1649124;1672951;1697084;1704870;1718529;1724673;1759409;1766151;1852915;2120574;2187068;5024619 A071XD9;D17S1791;G29125;RH102024;RH121339;RH122466;RH35921;RH41868;SHGC-149527;SHGC-150916;SHGC-3315;SHGC-79909;STS-H49358 CARB CIP-1-associated regulator of cyclin B;syntaxin-8 APPROVED protein-coding HGNC:11443 05012 604203 REVIEWED 68634 STX5 syntaxin 5 This gene encodes a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for v-SNAREs (vesicle-SNAP receptors), permitting specific synaptic vesicle docking and fusion. The encoded protein regulates endoplasmic reticulum to Golgi transport and plays a critical role in autophagy. Autoantibodies targeting the encoded protein may be a diagnostic marker for endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 11 11 11 q12.3 51132647 51133735 - 62574332 62599563 - 62806860 62832091 - 1580863;6480464;8554872 10080545;10903204;11035026;11927603;11959998;12388752;12473691;12477932;12506202;12651853;14565970;15029241;15109302;15215310;15489334;16081076;16169070;16189514;16712791;17389686;18029348;18086915;18167358;18187620;19536132;20562859;20676083;21139048;21242315;21715015;21906983;21987572;22087225;22505724;23000965;23701949;24816145;25015289;9094723;9166403;9188044;9325254;9472029;9506515;9647643;9714710 6811 B4DKR0;E9PNU4;E9PP18;E9PRW9;H0YEJ8;H7C3X5;Q13190 ABBA01003246;AK296675;AK313497;AMYH02024899;AMYH02024900;AP001160;BC002645;BC012137;BE409085;BT019646;BT019647;BX537426;CB155395;CH471076;CQ871256;NG_030034;NM_001244666;NM_003164;U26648 AAC71078;AAH02645;AAH12137;AAV38452;AAV38453;BAG36279;BAG59272;CAD97668;CAH56809;EAW74108;EAW74109;EAW74110;NP_001231595;NP_003155;Q13190 Hs.654602 1649902;1680611;1682377;1697102;1698812;1725831;1772447;1778159;1792336;1792376;2109905;2147411;2183382;2184994;5106391 D11S1140;D11S4715;G62080;PMC14794P1;PMC150226P1;RH102034;RH102969;RH48793;RH66222;RH79939;RH80822;SHGC-2475;STS-U26648;STX5A_8658;WI-15662 SED5;STX5A OTTHUMP00000185026;OTTHUMP00000185027;OTTHUMP00000185028;OTTHUMP00000233136;syntaxin 5A;syntaxin-5 APPROVED protein-coding ENSG00000162236 HGNC:11440 04426 603189 REVIEWED 735349 STX3 syntaxin 3 The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 11 11 11 q12.1 56885275 56936097 + 59522479 59573355 + 59755006 59805882 + 1580863;6480464;8554872 10080545;10336434;10397765;10788461;11003604;11487543;12198139;12477932;12545172;12558796;12828989;14702039;15489334;15576373;15623527;16339081;16551573;17041090;17207965;17255364;17363971;17693260;18029348;18588921;19515809;19815536;20379614;20695848;20844248;21139048;21371234;21720706;21906983;21981832;23132338;24171760;24250222;24726755;7598732;7768895;7791877;8663154;8824312;9045631;9168999;9378770;9614185;9701566;9852078 6809 E9PN33;E9PQJ8;F8W9Y0;Q13277;Q53YE2 AA858058;ABBA01021506;ABBA01021507;ABBA01021508;ABBA01021509;AJ002076;AJ002077;AK055468;AK125660;AK290251;AK293494;AK297419;AK312909;AMYH02024867;AMYH02024868;AP000640;BC007405;BC007429;BT006666;BX538158;CH471076;JA738671;NM_001178040;NM_004177;U32315;X90581;XM_005274195;XM_005274196;XM_005274198;XM_005274199;XM_005274200;XM_006718672 AAA75303;AAH07405;AAH07429;AAP35312;ADQ31840;BAF82940;BAG35755;BAG54232;BAG56981;BAG59852;CAA05175;CAA05176;CAA62209;CAD98039;CCF76988;EAW73853;EAW73854;EAW73855;EAW73856;EAW73857;NP_001171511;NP_004168;Q13277;XP_005274252;XP_005274253;XP_005274255;XP_005274256;XP_005274257;XP_006718735 Hs.180711 1341732;1652719;1666195;1737213;1774196;2128967;2136308;2139208;2169217;5092648;7185343 A005M15;A007C17;D11S1335;D11S1991;D11S3077;D11S4654;G32238;RH67805;SGC35544;STS-H71666 FLJ30906;STX3A OTTHUMP00000235765;OTTHUMP00000235767;OTTHUMP00000235768;syntaxin 3A;syntaxin-3 APPROVED protein-coding ENSG00000166900 HGNC:11438 15985 600876 REVIEWED 737322 STXBP1 syntaxin binding protein 1 This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] 9 9 9 q34.1 101025378 101105881 + 130374486 130454995 + 127612207 127692716 + 2311087;6480464;7240710;8554872;8699517 19295123 10194441;10449403;10746715;10903204;11927603;12016213;12093152;12477932;12519779;12590134;12773094;12950453;12963086;14702039;14702098;14744865;15175344;15217342;15489225;15489334;15563604;15592455;15635413;16413130;16722236;17200691;17264080;17363971;17500595;18268500;18469812;18617632;18781797;18854154;19019082;19056867;19557857;19686046;20471030;20681955;20876469;20887364;21139048;21204804;21364700;21565611;21669024;21762454;21770924;21832049;21906983;22211739;22360420;22939629;23091057;23409955;23487749;23858467;23898208;24189369;24623842;24700782;24816145;25008876;7553862;7698978;7768895;8108429;8631738;8824310;9045631;9115738;9395480;9545644;9933594 6812 B7Z1V5;P61764;Q68CM6 AB209180;ABBA01043839;ABBA01043840;AF004562;AF004563;AK094794;AK293984;AK295154;AK295802;AL162426;AMYH02021691;AMYH02021692;AMYH02021693;BC015749;CH471090;D63851;DC325017;NG_016623;NM_001032221;NM_003165;Y12723 AAC39688;AAC39689;AAH15749;ABM86352;ABW03785;BAA19483;BAD92417;BAH11641;BAH11993;BAH12190;CAA73255;EAW87679;EAW87681;NP_001027392;NP_003156;P61764 Hs.288229 1657944;1740019;1798232;1848318;2161539;2162623;2170016 1986;D9S1028E;D9S1144;D9S1763;STXBP1_858.2;WI-17094;WI-4184 EIEE4;FLJ37475;MUNC18-1;N-Sec1;NSEC1;P67;RBSEC1;UNC18 OTTHUMP00000022196;OTTHUMP00000022197;neuronal SEC1;protein unc-18 homolog 1;protein unc-18 homolog A;syntaxin-binding protein 1;unc-18A;unc18-1 APPROVED protein-coding ENSG00000136854 HGNC:11444 04235 602926;612164 REVIEWED 732509 STXBP3 syntaxin binding protein 3 ENCODES a protein that exhibits syntaxin binding; INVOLVED IN negative regulation of calcium ion-dependent exocytosis; neutrophil degranulation; platelet aggregation; PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; FOUND IN cytosol; extracellular vesicular exosome; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-nicotine; aflatoxin B1 1 1 1 p13.3 107559095 107621723 + 109289285 109352148 + 108746663 108809526 + 1580863;2302393;6480464 17717074 10194441;12065586;12477932;12649283;12773094;12832401;15146197;15489334;15576373;15707389;18029348;18588921;19061073;19738201;20416077;20460426;21139048;21444687;21890473;21897333;21906983;21963094;21987572;21988832;22390153;22939629;23000965;23246001;23700440;8125298;8824310 6814 O00186 ABBA01068354;AF032922;AK223170;AK290134;AK291322;AK312910;AL449266;AL591719;AMYH02001700;BC028028;BC038099;BC047764;CH471122;CN409056;D63506;NM_007269 AAC69606;AAH38099;AAH47764;BAA19482;BAD96890;BAF82823;BAF84011;BAG35756;EAW56330;EAW56331;EAW56332;NP_009200;O00186 Hs.530436 1708204;1796894;1855332;5017582 HIAT1;SHGC-75260;SHGC-79358;STXBP3__1208 MUNC18-3;MUNC18C;PSP;UNC-18C OTTHUMP00000012823;platelet Sec1 protein;protein unc-18 homolog 3;protein unc-18 homolog C;syntaxin 4 binding protein;syntaxin-binding protein 3;unc18-3 protein-coding ENSG00000116266 HGNC:11446 10517 608339 VALIDATED 8549294 STX8P1 syntaxin 8 pseudogene 1 12 12 12 18072732 18073197 - 12924170 12924635 - 12771236 12771701 - 100423046 ABBA01067849;AC007215;AMYH02026064;NG_021191 pseudo HGNC:49855 INFERRED 6770039 STXBP5-AS1 STXBP5 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 6 6 6 q24.3 147902947 148266191 - 147162524 147525750 - 146841388 147204614 - 8554872 12477932;14702039;16344560 729178 ABBA01025715;ABBA01025716;ABBA01025717;ABBA01025718;ABBA01025719;ABBA01025720;AK091594;AK125216;AL138916;AL356415;AL512345;AL512636;AMYH02014658;AMYH02014659;AMYH02014660;AMYH02014661;BC035182;BC044307;BQ269903;BU078216;DB318281;HG499764;HG499765;HG499767;KF458324;NR_034115 Hs.557608 1671271;1713593;1713807;1714629;1716799;1718369;1729750;1755477;2130993;2171885;5037552 D6S1300;D6S225;D8S2279;RH119980;RH120668;RH120790;RH121694;RH122957;RH66550;SHGC-142341;SHGC-36574 RP11-497D6.4 APPROVED ncrna HGNC:44183 VALIDATED 1317366 STXBP4 syntaxin binding protein 4 ENCODES a protein that exhibits calcium ion binding (inferred); INVOLVED IN cellular response to DNA damage stimulus; positive regulation of cell cycle G1/S phase transition; positive regulation of keratinocyte proliferation; PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; FOUND IN cytoplasm; extracellular vesicular exosome; intermediate filament cytoskeleton; INTERACTS WITH aflatoxin B1; clorgyline; copper(2+) sulfate 17 17 17 q22 49508379 49703707 + 53046119 53241646 + 54968765 55164285 + 2302395;6480464;6484113 17629673 10394363;12477932;12855681;14702039;15489334;15753124;16713569;18029348;19056867;19451233;20095854;20145138;20360068;20416077;21906983;22863968;23535729;24255178 252983 B5MCT9;E7EPP7;K7ESN8;Q6ZWJ1 ABBA01041284;ABBA01041285;ABBA01041286;AC005177;AC007485;AK122865;AK123793;AMYH02033644;AMYH02033645;AMYH02033646;BC041485;BC125116;CA848494;CH471109;NM_178509;XM_005257187;XM_006721797;XM_006721798 AAH41485;AAI25117;BAC85511;EAW94545;EAW94546;NP_848604;Q6ZWJ1;XP_005257244;XP_006721860;XP_006721861 Hs.35199 1662933 STS-D63113 FLJ16496;MGC149829;MGC50337 OTTHUMP00000082667;OTTHUMP00000227400;STX4-interacting protein;Synip;syntaxin 4 interacting protein;syntaxin 4-interacting protein;syntaxin-binding protein 4 protein-coding HGNC:19694 18127 610415 VALIDATED 731468 STX4 syntaxin 4 ENCODES a protein that exhibits SNAP receptor activity (inferred); SNARE binding (inferred); INVOLVED IN blood coagulation (inferred); intracellular protein transport (inferred); membrane organization (inferred); PARTICIPATES IN E-cadherin signaling pathway; insulin responsive facilitative sugar transporter mediated glucose transport pathway; vasopressin signaling pathway via receptor type 2; FOUND IN basolateral plasma membrane; cell surface; extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 16 16 16 p11.2 29246015 29253171 - 31044416 31051489 + 31033095 31040168 + 1580863;2302393;2302397;6480464;6484113;6907045 17717074;18570632 10194441;10394363;10397765;10508479;10713150;10820264;10856305;11031247;11063739;11252894;11842301;11880646;11884531;11994746;12130530;12145319;12417022;12435603;12477932;12517971;12556468;12558796;12651853;12773094;12828989;12832401;12853575;12855681;14702039;14993220;15184072;15351710;15489334;15576373;16189514;16339081;18029348;18535201;18588921;18793635;19546860;19738201;20434989;20595382;20956541;20959521;21139048;21393240;21720706;21890473;21906983;21963094;22226963;22558309;22939629;23000965;23246001;24055037;24146186;24250222;24552216;24816145;7690687;7768895;7791877;8206394;8663154;8760387;8770861;8973549;9045631;9168999;9815132;9852078 6810 B7Z425;C9JFM5;H3BMK2;Q12846 ABBA01042075;ABBA01042076;AC135050;AF026007;AF318489;AJ000541;AK091833;AK296652;AK315716;AMYH02031839;BC002436;BI755734;BQ775670;BT007326;CH471192;CR541806;NM_001272095;NM_001272096;NM_004604;U07158;X85784;XM_005255521 AAA20967;AAB88810;AAG40313;AAH02436;AAP35990;BAG38075;BAG52424;BAH12411;CAA04174;CAA59769;CAG46605;EAW52175;EAW52176;EAW52177;NP_001259024;NP_001259025;NP_004595;Q12846;XP_005255578 Hs.83734 1683733;1684192;1762747 RH11484;RH48799;SHGC-146535 STX4A;p35-2 OTTHUMP00000163238;OTTHUMP00000196803;renal carcinoma antigen NY-REN-31;syntaxin 4A (placental);syntaxin-4 protein-coding ENSG00000103496 HGNC:11439 01722 186591 VALIDATED 1323085 STXBP5L syntaxin binding protein 5-like ENCODES a protein that exhibits syntaxin binding (inferred); INVOLVED IN exocytosis (inferred); glucose homeostasis (inferred); negative regulation of insulin secretion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH levonorgestrel; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 q13.33 119036797 119553405 + 120627050 121143608 + 120908203 121424761 + 1580863;6480464;8554872 10231032;12477932;14767561;15489334;19586676;20379614;23223146;25002582;9620695 9515 C9JCY1;C9JPK3;C9JQS3;C9JUZ7;C9K0E4;E9PFI2;Q9Y2K9 AB023223;ABBA01016486;ABBA01016487;ABBA01016488;ABBA01016489;ABBA01016490;ABBA01016491;ABBA01016492;AC072026;AC078854;AC078857;AC079841;AC112483;AC128659;AI279148;AK296544;AMYH02007521;AMYH02007522;AMYH02007523;AMYH02007524;BC022029;BC037531;CH471052;DC324331;DC403621;KF457676;NM_014980;XM_005247907;XM_006713825;XM_006713826 AAH22029;AAH37531;AAI66611;BAA76850;BAG59168;EAW79516;NP_055795;Q9Y2K9;XP_005247964;XP_006713888;XP_006713889 Hs.477315 1298282;1709664;1735256;1753137;1779734;1779898;1847140;1848425;1856225;2106661 A006Y27;D3S2916E;D3S3023;DXS6736;SHGC-109993;SHGC-153705;SHGC-154102;SHGC-85203;STXBP5L__5348;WI-21827 KIAA1006;LLGL4 OTTHUMP00000215251;OTTHUMP00000215270;OTTHUMP00000215422;OTTHUMP00000215423;OTTHUMP00000215424;OTTHUMP00000215425;lethal(2) giant larvae protein homolog 4;syntaxin-binding protein 5-like;tomosyn-2;tomosyn-like protein-coding ENSG00000145087 HGNC:30757 609381 VALIDATED 1348462 STYK1 serine/threonine/tyrosine kinase 1 Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008] 12 12 12 p13.2 15919887 15975209 - 10771538 10826917 - 10618923 10674318 - 6480464;8554872 11076863;11230166;11256614;12471243;12477932;12841579;15150103;15489334;15489336;16381901;17298854;17415682;19409952;19464057;19664042;20379614;21906983;22516751;22939624;23010592 55359 F5GZF6;F5H2I9;F5H366;F5H4G3;H0YGL5;Q6J9G0 ABBA01067806;AC021049;AF251059;AK313906;AL353940;AMYH02026029;AY563054;BC093822;BC093824;CH471094;NM_018423;XM_005253417 AAH93822;AAH93824;AAK34949;AAT01226;BAG36629;CAB89250;CAL38683;EAW96200;NP_060893;Q6J9G0;XP_005253474 Hs.24979 1726045;1736244;1770059;2143053 A006W05;D12S1192E;G62335;RH15724 DKFZp761P1010;NOK;SuRTK106 OTTHUMP00000238727;novel oncogene with kinase domain;protein PK-unique;tyrosine-protein kinase STYK1 APPROVED protein-coding ENSG00000060140 HGNC:18889 15447 611433 VALIDATED 1347913 STXBP5 syntaxin binding protein 5 (tomosyn) Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 6 6 6 q24.3 148265949 148449151 + 147525494 147711612 + 147204358 147390476 + 1299498;6480464 9620695 10066450;12477932;12832401;14574404;14702039;14767561;15217342;16712791;17081983;17620599;20231535;20463552;20694014;21029358;21156930;21163921;21330375;22792389;23897914;24578379;24816145;7829101 134957 H0Y332;Q3B794;Q5JRH0;Q5T5C0 AB073398;ABBA01025714;ABBA01025715;AI079651;AK055484;AK090549;AK128121;AL355365;AL356415;AL590709;AL834152;AMYH02014661;AMYH02014662;AMYH02014663;AMYH02014664;AMYH02014665;AMYH02014666;AW020148;BC043173;BC043645;BC065713;BC107737;BC113382;BC113408;CB140025;CH471051;HG499775;NM_001127715;NM_139244;XM_006715339;XR_245502;XR_245504;XR_427962 AAI07738;AAI13383;AAI13409;BAB70930;BAC03475;BAE45727;BAG54632;EAW47819;EAW47820;EAW47821;EAW47822;EAW47823;NP_001121187;NP_640337;Q5T5C0;XP_006715402 Hs.736439;Hs.86320 1670588;1680429;1691322;1714161;1715059;1723817;1796896;1850161;1858279;2120301;2130993;2157090;2171885 D6S1205E;G35014;RH118645;RH119481;RH119689;RH66550;RH98677;RH98706;SGC32886;SHGC-36574;SHGC-57989;STS-H95256;STXBP5_1310 FLJ30922;LGL3;LLGL3;MGC141942;MGC141968;Nbla04300;RP11-361F15.2 OTTHUMP00000017380;OTTHUMP00000017381;OTTHUMP00000017382;lethal(2) giant larvae protein homolog 3;putative protein product of Nbla04300;syntaxin-binding protein 5;tomosyn;tomosyn-1 APPROVED protein-coding HGNC:19665 06845 604586 REVIEWED 1314544 STXBP6 syntaxin binding protein 6 (amisyn) STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008] 14 14 14 q12 5145717 5383553 - 25278860 25519095 - 24809654 25049889 - 625564;6480464 12145319 11042152;12477932;12508121;14702039;15217342;15489334;20379614;21116278;21139048;21738478;22589738;22685579 29091 F8VZZ2;Q8NFX7 ABBA01061347;ABBA01061348;ABBA01061349;AF161505;AF391153;AK096957;AK309203;AL137164;AL161663;AL161666;AL834346;AMYH02028882;AMYH02028883;BC009499;BC067278;CH471078;CS320137;NM_014178;XM_005267556;XM_006720121 AAF29120;AAH09499;AAH67278;AAM46624;ABM84053;ABM87404;BAC04911;CAD39012;CAK96043;EAW65996;EAW65997;EAW65998;EAW65999;EAW66000;EAW66001;NP_054897;Q8NFX7;XP_005267613;XP_006720184 Hs.508958 1336534;1339829;1657157;1659545;1695928;1721303;1725411;1739405;1753705;1755407;2151729;5094154;7187912 D14S1041;D14S264;D14S808E;G54578;G59648;RH119024;RH69531;RH69591;RH78514;SHGC-107575;SHGC-142285;SHGC-78883 FLJ39638;HSPC156 OTTHUMP00000178754;OTTHUMP00000243806;OTTHUMP00000243807;OTTHUMP00000243808;OTTHUMP00000243809;OTTHUMP00000243810;amisyn;syntaxin-binding protein 6 APPROVED protein-coding ENSG00000168952 HGNC:19666 607958 PROVISIONAL 1312345 STYX serine/threonine/tyrosine interacting protein The protein encoded by this gene is a pseudophosphatase, able to bind potential substrates but lacking an active catalytic loop. The encoded protein may be involved in spermiogenesis. Two transcript variants encoding the same protein have been found for these genes. [provided by RefSeq, Oct 2011] 14 14 14 33246562 33291384 + 53196883 53241707 + 52730165 52774989 + 1580863;6480464 11842224;12477932;14702039;15489334;17047026;19369647;23535732;23847209;24035498;7592916;9633825 6815 Q8WUJ0 ABBA01018169;AF085865;AK098195;AK124924;AL133453;AL139317;AL832591;AL832697;AMYH02029193;BC020265;BC146995;BC146998;BQ772275;BX647636;CH471061;CH471078;DB498442;NG_030377;NM_001130701;NM_145251;U87169;XM_006720242 AAB47561;AAH20265;AAI46996;AAI46999;BAC05259;EAW65641;EAW65644;EAW80612;EAW80613;NP_001124173;NP_660294;Q8WUJ0;XP_006720305 Hs.364980 1660343;1664006;1667784;2124896;2140215;2147560 G36146;RH44742;SHGC-34397;SHGC-37165;STS-Z40984;WI-15120 FLJ42934 OTTHUMP00000179000;OTTHUMP00000245250;protein tyrosine phosphatase-like protein;serine/threonine/tyrosine-interacting protein APPROVED protein-coding ENSG00000198252 HGNC:11447 10258 615814 REVIEWED 2291764 SUB1P1 SUB1 pseudogene 1 8 8 8 p23.1 10776788 10777921 + 11647461 11648594 + 11789952 11791085 + 11181995 728938 ABBA01026877;AC069185;AMYH02017441;CH471157;NG_007169 EAW65627 1697138 RH102055 hCG17750 APPROVED pseudo HGNC:32300 INFERRED 6484035 SUB1P2 SUB1 pseudogene 2 14 14 14 q24.3 54809436 54810076 + 74772126 74772766 + 74305423 74306063 + 100287680 ABBA01030724;AC005519;AMYH02029514;NG_022860;NG_032875 APPROVED pseudo HGNC:43992 INFERRED 6484037 SUB1P4 SUB1 pseudogene 4 16 16 p12.2 23548381 23549453 + 23537060 23538132 + 100288661 ABBA01017064;AC002400;AMYH02031702;NG_027752;NG_027760 APPROVED pseudo HGNC:43994 INFERRED 1349385 SUCLA2P1 succinate-CoA ligase, ADP-forming, beta subunit pseudogene 1 6 6 6 p21.33 32034788 32036154 + 30436650 30438699 + 30468873 30470922 + 19851445 646520 ABBA01038045;AL662822;AL662873;AL844213;AMYH02013431;BX927143;BX936375;CR762481;NG_022351 1748515 SHGC-31155 Em:AB014080.4;SUCLA2P APPROVED pseudo HGNC:21632 INFERRED 1605698 SUB1 SUB1 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; single-stranded DNA binding; transcription coactivator activity; INVOLVED IN regulation of transcription from RNA polymerase II promoter; FOUND IN extracellular vesicular exosome; nucleolus; nucleus; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 5 5 5 p13.3 32467253 32485840 + 32585605 32604185 + 32585499 32604079 + 6480464 10024883;10887206;11005381;11279157;11313979;11389848;11741883;12477932;12565890;12590132;14966284;15199162;15302935;15489334;15635413;15893730;16415882;16982701;17081983;17130840;17317687;17361185;17785449;18029348;18854154;19038270;19047459;19322201;19471022;19525231;19706510;19738201;19759913;20080105;20305379;20360068;21139048;21193408;21319273;21586571;21832049;21890473;21906983;21907836;21963094;21987572;22113938;22174317;22505724;22939629;23000965;23184937;23455922;23602568;24816145;7628453;7809103;8062391;8062392;9360603;9482861;9632764;9660784;9660958;9792714;9885563 10923 D6R970;D6RC37;P53999;Q6IBA2 AB209285;ABBA01066746;AC074134;AK294124;AK307268;AK311754;AMYH02011128;AMYH02011129;BC009610;BC010537;BC018189;BC022339;BC063402;BC071655;BC105972;BX472106;CH471118;CR456902;HI554101;NM_006713;U12979;X79805 AAA20980;AAH09610;AAH10537;AAH18189;AAH22339;AAI05973;BAD92522;BAG34697;BAH11676;CAA56200;CAG33183;CBX54570;EAX10793;EAX10794;EAX10795;EAX10796;NP_006704;P53999 Hs.229641 1677354;1689576;1697138;1713239;1854281;5123010 RH102055;RH120609;RH41222;RH69265;SGC32812;WI-16354 MGC102747;P15;PC4;p14 OTTHUMP00000161705;OTTHUMP00000220915;OTTHUMP00000220916;OTTHUMP00000220918;OTTHUMP00000220919;activated RNA polymerase II transcription cofactor 4;activated RNA polymerase II transcriptional coactivator p15;positive cofactor 4 protein-coding ENSG00000113387 HGNC:19985 02737 600503 VALIDATED 1353281 STYXL1 serine/threonine/tyrosine interacting-like 1 ENCODES a protein that exhibits protein tyrosine/serine/threonine phosphatase activity (inferred); INVOLVED IN intracellular signal transduction (inferred); protein dephosphorylation (inferred); INTERACTS WITH 2-methylcholine; copper(2+) sulfate; cyclosporin A 7 7 7 q11.23 70494194 70545856 - 75625610 75677321 - 75996337 76048003 - 1580863;6480464 10737800;12477932;12853948;15489334;15735734;15761153;15790807;16341674;17353931;20180778;21262771;21906983;21963094;23163895;9757831 51657 C9J4H0;F8W9Q3;H0Y6C4;H7C1Y2;Q9Y6J8 AA782050;ABBA01005898;ABBA01005899;ABBA01005900;ABBA01005901;ABBA01005902;ABBA01005903;AC006330;AF069762;AF169647;AF169648;AF188201;AF188202;AF188203;AF188204;AI676056;AK308828;AMYH02016076;AMYH02016077;AY927581;BC024035;BM824947;BX537896;CH471220;NM_016086;W58723 AAD36983;AAD53723;AAD53724;AAF04111;AAF04112;AAF04113;AAF04114;AAH24035;AAS07535;ABM84346;ABM87738;ACE86525;ACE87204;CAD97887;EAW71789;EAW71790;EAW71791;EAW71792;EAW71793;EAW71794;EAW71795;NP_057170;Q9Y6J8 Hs.11615 1651099 WI-15388 DUSP24;MK-STYX OTTHUMP00000161016;OTTHUMP00000210188;OTTHUMP00000210189;OTTHUMP00000210191;OTTHUMP00000210192;OTTHUMP00000210195;dual specificity phosphatase 24 (putative);dual specificity phosphatase inhibitor MK-STYX;dual specificity protein phosphatase 24;map kinase phosphatase-like protein MK-STYX;serine/threonine/tyrosine-interacting-like protein 1 protein-coding ENSG00000127952 HGNC:18165 13256 VALIDATED 1319721 SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008] 13 13 13 q12.2-q13.3 29571546 29630199 - 48516791 48612125 - 47942656 48001326 - 1580863;2306915;6480464;6907045;7240710;8554872;8699517 17403370 10508479;10727444;12477932;14643893;14702039;15489334;15592455;15877282;18392745;19056867;19167051;19526370;19615732;20186120;20301762;20843780;20877624;21139048;21782286;21890473;22190034;22589738;22740690;22939629;22980518;23010432;23759946;24250222;24816145;25027693;8125298;9765291 8803 E5KS60;Q5T9Q5;Q5T9Q8;Q9P2R7;Q9Y4T0 AB035863;ABBA01050999;ABBA01051000;AF058953;AF087890;AK001458;AK001847;AK093506;AK225452;AK299437;AK302311;AK315513;AK316041;AK316271;AL080096;AL157369;AMYH02027997;BC027587;BX640602;CH471075;HQ205871;HQ205872;HQ205873;HQ205874;HQ205876;HQ205877;HQ205879;HQ205882;HQ205883;HQ205886;HQ205891;HQ205894;HQ205897;KF510401;NG_008241;NM_003850 AAC64396;AAH27587;AAP97189;ADP91739;ADP91740;ADP91741;ADP91742;ADP91744;ADP91745;ADP91747;ADP91750;ADP91751;ADP91754;ADP91759;ADP91762;ADP91765;BAA91703;BAA91939;BAA92873;BAG37894;BAG61414;BAG63649;BAH14412;BAH14642;CAB45708;CAE45708;EAX08775;EAX08776;EAX08777;EAX08778;NP_003841;Q9P2R7 Hs.743361 1748515;2131911;2168256;2173356;2174830;2185089 A004F20;D13S1358;HSC2RA062;RH70784;SHGC-31155;SHGC-64010 A-BETA;MTDPS5;SCS-betaA ATP-specific succinyl-CoA synthetase subunit beta;ATP-specific succinyl-CoA synthetase, beta subunit;OTTHUMP00000018384;OTTHUMP00000018385;OTTHUMP00000018388;mitochondrial succinyl-CoA ligase [ADP-forming] subunit beta;renal carcinoma antigen NY-REN-39;succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial;succinyl-CoA synthetase beta-A chain APPROVED protein-coding ENSG00000136143 HGNC:11448 06798 603921;612073 REVIEWED 2859028 SUCLA2P3 succinate-CoA ligase, ADP-forming, beta subunit pseudogene 3 2 2 2 25143123 25144908 - 25302773 25304558 - 25079904 25081689 - 100421648 ABBA01045133;AC013267;AMYH02003430;AMYH02003431;NG_021497 2184574 D2S1292 pseudo HGNC:38103 INFERRED 3184209 SUCLA2P2 succinate-CoA ligase, ADP-forming, beta subunit pseudogene 2 2 2 2 p12 76165538 76166736 - 76333127 76334325 - 76106001 76107199 - 100129863 ABBA01075626;AC073091;AMYH02004100;NG_021507 pseudo HGNC:38102 INFERRED 733592 STXBP2 syntaxin binding protein 2 This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013] 19 19 19 p13.3-p13.2 7573175 7583945 + 7701987 7712760 + 7637101 7647874 + 1580863;6480464;8699517;7240710;8554872 10788461;11337467;11487543;11748230;12065586;12198139;12477932;12482918;12649283;12773094;14702039;16344560;18588921;19460752;19804848;19884660;20301617;20558610;20695848;20798128;20823128;21139048;21152410;21881043;21890473;21906983;21990010;22123903;22336081;22451424;22505724;22672194;22791290;22796692;22939629;23000965;23100279;23382066;23487749;23687090;24194549;24816145;25036637;7598732;7768895;8125298;8921365;9045631;9701566 6813 M0QZ54;M0R0D4;M0R0M7;M0R118;M0R1A1;M0R376;Q15833;Q53GF4;R4GMY7 AB002559;ABBA01010893;AC008763;AF318317;AI571535;AK098000;AK222967;AK222977;AK302257;AK303701;AK314230;AMYH02035403;AU098728;BC002869;BQ067493;BT006915;CH471139;DA431480;NG_016709;NM_001127396;NM_001272034;NM_006949;NR_073560;U63533;XM_006722851 AAC50762;AAH02869;AAL55824;AAP35561;ADZ15922;BAA19547;BAD96687;BAD96697;BAG63608;BAG64687;EAW69017;EAW69018;NP_001120868;NP_001258963;NP_008880;Q15833;XP_006722914 Hs.515104 5114523 RH36223 FHL5;Hunc18b;MUNC18-2;UNC18-2;UNC18B;pp10122 protein unc-18 homolog 2;protein unc-18 homolog B;syntaxin-binding protein 2;unc-18B APPROVED protein-coding ENSG00000076944 HGNC:11445 03423 601717;613101 REVIEWED 8157941 SUCLG2-AS1 SUCLG2 antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 67705150 67818830 + 67654697 67947713 + 8554872 101927111 ABBA01030881;ABBA01030882;ABBA01030883;ABBA01030884;ABBA01030885;AC099783;AC113171;AC135321;AC138390;AL832184;AMYH02006996;AMYH02006997;AMYH02006998;AMYH02006999;BC038210;HG495759;HG495760;HG495761;NR_109992;NR_109993 Hs.518057;Hs.734282 RP11-81N13.1 ncrna ENSG00000241316 HGNC:49643 VALIDATED 731609 SUCLG1 succinate-CoA ligase, alpha subunit This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010] 2 2 2 p11.2 84479456 84515401 - 84650647 84686586 - 84423523 84459462 - 1580863;2306915;6480464;6907045;7240710;8554872;8699517 17403370 10873456;12477932;14702039;15234968;15342556;15489334;16730941;17314511;17668387;18029348;18392745;19526370;20197121;20227526;20693550;20877624;21139048;21890473;22939629;22980518;22990118;23870195;23874603;25027693;8125298;9128182 8802 H7C233;P53597 AA705613;ABBA01075723;ABBA01075724;AC096770;AF104921;AK024767;AK125502;AK225737;AK291082;AK296741;AK313290;AMYH02004158;BC000504;BM804835;BP194715;BQ774501;CH471053;CR457139;NG_016755;NM_003849;Z68204 AAD17940;AAH00504;AAY24107;BAF83771;BAG36098;BAH12424;CAA92426;CAG33420;EAW99558;NP_003840;P53597 Hs.270428 1672107;1673137;1681225;2121660;5022578;5022649;5037552 D11S2875;D1S1423;D8S2279;RH68703;RH91265;SHGC-35054;WI-15353 FLJ21114;FLJ43513;G-ALPHA;MTDPS9;SCS-alpha;SUCLA1 GALPHA;OTTHUMP00000160494;succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial;succinyl-CoA ligase [GDP-forming] subunit alpha, mitochondrial;succinyl-CoA synthetase subunit alpha APPROVED protein-coding ENSG00000163541 HGNC:11449 18128 245400;611224 REVIEWED 6484043 SUCLG2P1 succinate-CoA ligase, GDP-forming, beta subunit pseudogene 1 3 3 3 140674702 140675423 - 142251089 142251810 - 142532247 142532968 - 100421671 ABBA01059024;AC134509;AMYH02007820;NG_025634 pseudo HGNC:43996 INFERRED 6484051 SUCLG2P2 succinate-CoA ligase, GDP-forming, beta subunit pseudogene 2 12 12 12 q22 94613247 94615577 + 94941997 94944331 + 94548221 94550555 + 283398 ABBA01053362;AC023161;AMYH02026953;NG_017133 1679690;1684028;2149508 G20754;RH17211;RH41686 pseudo HGNC:43997 INFERRED 6484024 SUCLG2P4 succinate-CoA ligase, GDP-forming, beta subunit pseudogene 4 5 5 5 p13.3 28884497 28887466 + 29001850 29004819 + 29001743 29004712 + 100130528 ABBA01066690;AC024589;AMYH02011083;NG_017131 1785182;2115127;2135443 D5S1913;G15810;SHGC-78611 pseudo HGNC:43999 INFERRED 6484044 SUCLG2P3 succinate-CoA ligase, GDP-forming, beta subunit pseudogene 3 11 11 11 104611431 104612229 - 107456626 107457424 - 107585900 107586698 - 100421712 ABBA01039880;AMYH02025531;AP001823;NG_024413 pseudo HGNC:43998 INFERRED 1353653 SUCNR1 succinate receptor 1 This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009] 3 3 3 q25.1 150009552 150017998 + 151591431 151599876 + 151873643 151882088 + 1331358;1331359;6480464 11273702;15141213 10737800;12477932;15489334;17192395;19056867;19204147;20694011;22497252;23770096;23833031 56670 Q9BXA5 ABBA01058902;AC068647;AF247785;AF348078;AK290420;AMYH02007905;AMYH02007906;BC030948;BI031507;CH471052;EU432110;NM_033050 AAH30948;AAK29080;AAL95690;ABM86821;ABY87909;BAF83109;EAW78789;EAW78790;NP_149039;Q9BXA5 Hs.279575 GPR91 G protein-coupled receptor 91;G-protein coupled receptor 91;OTTHUMP00000216828;P2Y purinoceptor 1;P2Y purinoceptor 1-like APPROVED protein-coding HGNC:4542 16211 606381 REVIEWED 6484052 SUDS3P1 SUDS3 pseudogene 1 5 5 5 q35.3 30995 33616 - 177398179 177400822 + 177971178 177973821 + 285647 ABBA01039249;AC114936;AC136940;AC236592;AMYH02012858;NG_005309 APPROVED pseudo HGNC:44000 INFERRED 1605050 SUDS3 suppressor of defective silencing 3 homolog (S. cerevisiae) SDS3 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008] 12 12 12 q24.23 118447308 118488791 + 118814358 118855840 + 118376553 118418035 + 6480464 11214971;11909966;12477932;12670868;12724404;14702039;15489334;16387653;16919237;17081983;19070953;19471022;21239494;21693764;22113938;22443383;22662218;22984288;23602568;23752268;24816145 64426 Q9H7L9 AA916093;ABBA01020059;ABBA01020060;AC026367;AK023801;AK024460;AK026749;AMYH02027333;BC030252;BC045728;BC093990;BC098404;BC112000;BX647687;CH471054;NM_022491 AAH30252;AAH93990;AAH98404;AAI12001;BAB14685;BAB15750;EAW98137;EAW98138;EAW98139;EAW98140;EAW98141;NP_071936;Q9H7L9 Hs.416630;Hs.602312 1684810;1688249;1782650;5493263 RH81039;RH94298;SHGC-149425;UniSTS:485516 FLJ00052;MGC104711;SAP45;SDS3 45 kDa Sin3-associated polypeptide;OTTHUMP00000239703;sin3 histone deacetylase corepressor complex component SDS3;sin3A-associated protein, 45kDa;suppressor of defective silencing 3 protein homolog APPROVED protein-coding ENSG00000111707 HGNC:29545 12196 608250 VALIDATED 1312779 SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010] 3 3 3 p14.1 67353993 67645444 - 67410884 67705038 - 67360460 67654614 - 1580863;2306915;6480464;6907045;8554872 17403370 10471510;10873456;12477932;15234968;15489334;18976975;19615732;20161066;20379614;20677014;20800603;20877624;20881960;21139048;21145461;21295139;21890473;22144915;22190034;22939629;22990118;23146381;24583282;24816145;25027693;8619474;9110174;9765291 8801 E9PDQ8;H0Y852;Q96I99 ABBA01030880;ABBA01030881;AC099783;AC112213;AC113169;AC114401;AF058954;AF131748;AK294598;AK310527;AL050226;AMYH02006991;AMYH02006992;AMYH02006993;AMYH02006994;AMYH02006995;AMYH02006996;BC007716;BC019868;BC035149;BC047024;BC068602;CH471055;NM_001177599;NM_003848;R41924;XM_005264773;XR_245062 AAC64397;AAD20032;AAH07716;AAH19868;AAH35149;AAH47024;AAH68602;BAH11821;CAB43323;EAW65456;EAW65457;NP_001171070;NP_003839;Q96I99;XP_005264830 Hs.644919 1341430;1679690;1684028;1689883;1728543;1757371;1759299;1762619;1765413;1784744;1796898;1848854;2126466;2137919;2145962;2149508;2187308;5021892 D3S3524;G20754;G63710;RH15624;RH17211;RH41686;SHGC-144767;SHGC-146425;SHGC-148900;SHGC-150997;SHGC-154310;SHGC-17267;SHGC-57937;SHGC-77034;SHGC-77068;SUCLG2__1210;T02885;ha2344 G-BETA;SCS-betaG GBETA;GTP-specific succinyl-CoA synthetase beta subunit;GTP-specific succinyl-CoA synthetase subunit beta;OTTHUMP00000213363;OTTHUMP00000213364;OTTHUMP00000213365;succinyl-CoA ligase [GDP-forming] subunit beta, mitochondrial;succinyl-CoA ligase, GDP-forming, beta chain, mitochondrial;succinyl-CoA synthetase beta-G chain;succinyl-CoA synthetase, beta-G chain 2315897 GLUCO187_H APPROVED protein-coding ENSG00000172340 HGNC:11450 06799 603922 REVIEWED 1346700 SUFU suppressor of fused homolog (Drosophila) The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 10 10 10 q24.32 98004628 98134149 + 104263719 104393214 + 102503962 102633457 + 1599191;5510013;6480464;6484113;6907045;7240710;8554872;8699517 12068298;20716670 10559945;10564661;10806483;11001584;11252182;11960000;12426310;12477932;12975309;14611647;15077159;15164054;15367681;15489334;16189514;16344560;16385451;16691619;17002296;18029348;18077375;18829525;18997815;19022373;19055941;19432668;19533801;19833601;20211142;20301330;20819778;21139048;21188540;21209912;21210262;21317289;21451052;21543335;21890473;21906983;22365972;22508808;22666390;22829011;22958902;23535732;23538333;23951062;24035498;24217340;24250222;24311597 51684 Q9UMX1 ABBA01063143;ABBA01063144;ABBA01063145;ABBA01063146;ABBA01063147;ABBA01063148;ABBA01063149;ABBA01063150;ABBA01063151;AF144231;AF159447;AF172319;AF175770;AF222345;AK307370;AK311503;AK312319;AL121928;AL137465;AL157386;AL391121;AMYH02023697;AMYH02023698;AMYH02023699;AMYH02023700;AMYH02023701;AY081829;AY358550;BC013291;CH471066;DA248208;NG_021338;NM_001178133;NM_016169;XM_006717892 AAD50501;AAD51655;AAF23890;AAF23893;AAF35866;AAH13291;AAM08947;AAQ88914;ABM83512;ABM86730;BAG35241;CAB70752;EAW49681;EAW49682;EAW49683;EAW49684;NP_001171604;NP_057253;Q9UMX1;XP_006717955 Hs.404089 1336726;1337832;1645354;1682325;1758439;1762659;1764473;1848415;2144504 D10S1267;D10S1697;G17424;G17444;RH93916;SHGC-146455;SHGC-148076;SHGC-148339;STS-W86982 PRO1280 OTTHUMP00000020374;OTTHUMP00000020377;OTTHUMP00000020378;OTTHUMP00000020379;SUFUH;SUFUXL;suppressor of fused homolog APPROVED protein-coding ENSG00000107882 HGNC:16466 06124 109400;155255;607035;607174 REVIEWED 1347236 SUCO SUN domain containing ossification factor INVOLVED IN positive regulation of collagen biosynthetic process (ortholog); positive regulation of osteoblast differentiation (ortholog); regulation of bone remodeling (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane (ortholog); rough endoplasmic reticulum (ortholog); INTERACTS WITH all-trans-retinoic acid; cobalt dichloride; copper(2+) sulfate 1 1 1 q24 145611714 145690427 + 172501494 172580973 + 172532349 172611833 + 6480464;8554872 10673381;11158380;12477932;16344560;19850743;20440000;24250222 51430 B4DYM4;Q5H945;Q9UBS9 ABBA01027918;AF097535;AF310265;AF310266;AF310267;AF310268;AF310269;AF310270;AF310271;AF310272;AF310273;AF310274;AF310275;AF310276;AF310277;AF310278;AF310279;AF310280;AF310281;AF310282;AF310283;AF310284;AF310285;AF310286;AF310287;AF310288;AF310289;AF310290;AF310291;AF310292;AF310293;AF310294;AF310295;AF310296;AF310297;AF310298;AF310299;AF310300;AF310301;AF310302;AF310303;AF310304;AF310305;AF310306;AF310307;AF310308;AF310309;AF310310;AF310311;AF310312;AF310313;AF310314;AF310315;AF310316;AF310317;AF310318;AF310319;AF310320;AF310321;AF310322;AF310323;AF310324;AF310325;AJ250075;AK302509;AK302949;AL035291;AMYH02002148;AMYH02002149;BC137125;BC144487;CH471067;DB093941;KF455074;NM_001282750;NM_001282751;NM_014283;NM_016227;XM_005245251;XM_006711374;XM_006711375;XM_006711376;Z94054;Z96050 AAF04619;AAI37126;AAK28742;AAK28743;AAK28744;AAK28745;AAK28746;AAK28747;AAK28748;AAK28749;AAK28750;AAK28751;AAK28752;AAK28753;AAK28754;AAK28755;AAK28756;AAK28757;AAK28758;AAK28759;AAK28760;AAK28761;AAK28762;AAK28763;AAK28764;AAK28765;AAK28766;AAK28767;AAK28768;AAK28769;AAK28770;AAK28771;AAK28772;AAK28773;AAK28774;AAK28775;AAK28776;AAK28777;AAK28778;AAK28779;AAK28780;AAK28781;AAK28782;AAK28783;AAK28784;AAK28785;AAK28786;AAK28787;AAK28788;AAK28789;AAK28790;AAK28791;AAK28792;AAK28793;AAK28794;AAK28795;AAK28796;AAK28797;AAK28798;AAK28799;AAK28800;AAK28801;AAK28802;BAG63786;BAG64105;CAA22894;CAB57360;EAW90929;EAW90930;EAW90931;EAW90932;EAW90933;EAW90934;NP_001269679;NP_001269680;NP_055098;NP_057311;Q9UBS9;XP_005245308;XP_006711437;XP_006711438;XP_006711439 Hs.204559 1645896;1692810;1692856;1707842;1853007;2168616 D1S2496;G42271;G42295;SHGC-75904;SHGC-82153;WI-16356 C1orf9;CH1;OPT;SLP1 OTTHUMP00000032706;OTTHUMP00000032707;SUN domain-containing ossification factor;SUN-like protein 1;membrane protein CH1;osteopotentia;protein osteopotentia homolog APPROVED protein-coding ENSG00000094975 HGNC:1240 12732 VALIDATED 1314432 SUGP2 SURP and G patch domain containing 2 This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 19 19 19 p12 19006510 19049196 - 19101697 19144861 - 18990888 19034038 - 6480464;8554872 12477932;12594045;15057824;15302935;15489334;16565220;16713569;20211142;21890473;22446626;22586326;22939629;23602568;23667531;24457600;24816145;9205841 10147 A8K5G0;M0R065;M0R1Y3;M0R216;M0R2Y3;M0R2Z9;M0R3F6;Q8IX01 AB002363;ABBA01051303;ABBA01051304;ABBA01051305;ABBA01051306;AC004447;AF518874;AI039052;AK025508;AK074842;AK291275;AK299860;AL832488;AMYH02035749;BC020586;BX647813;BX647933;CH471106;CR627095;DC335817;NM_001017392;NM_014884;XR_430120;XR_430121;XR_430122;XR_430123;XR_430124 AAC06129;AAH20586;AAN77117;BAA20820;BAF83964;BAG61716;CAI46012;CAI46117;CAI46255;EAW84766;EAW84767;EAW84768;EAW84769;EAW84770;EAW84771;EAW84772;EAW84773;NP_001017392;NP_055699;Q8IX01 Hs.515271 2122782;5015690;5015861;5022578;5022649;5022773;5037552;7185938 D10S16;D11S2875;D19S845E;D1S1423;D8S2279;SFRS14;WI-14313 DKFZp686M2322;DKFZp779L2418;FLJ21855;SFRS14 SURP and G-patch domain-containing protein 2;arginine/serine-rich 14 splicing factor;arginine/serine-rich-splicing factor 14;putative splicing factor, arginine/serine-rich 14;splicing factor, arginine/serine-rich 14 APPROVED protein-coding ENSG00000064607 HGNC:18641 10469 607993 REVIEWED 1626140 SUGT1P2 SUGT1 pseudogene 2 3 3 3 p22.3 32733057 32734147 + 32794322 32795412 + 32752830 32753920 + 728706 ABBA01024927;AC138972;AMYH02006505;NG_006446 APPROVED pseudo HGNC:31377 INFERRED 1605159 SUGT1P1 SUGT1 pseudogene 1 9 9 9 p13.3 33430827 33441237 - 33500754 33511164 - 33500756 33511166 - 12477932;16344560 441394 ABBA01065049;AL139008;AMYH02019423;BE264023;DA804368;DB133316;NR_003667 Hs.521441 MGC15151;SGT1P;SUGT1P;bA255A11.1 APPROVED pseudo HGNC:19384 18367 VALIDATED 1316810 SUGT1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) This gene is homologous to the yeast gene SGT1, which encodes a protein involved in kinetochore function and required for the G1/S and G2/M transitions. Complementation studies suggest that the human protein has similar functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 13 13 13 q14.3 34212703 34248300 + 53226830 53262433 + 52652696 52688298 + 1580863;6480464;6907045 10445024;12477932;12665801;12746458;14676191;14761955;15018354;15342556;15346769;15489334;15592455;16501598;16964243;17420470;17435760;17466273;18358234;18781797;18818696;19398558;19471022;19615732;19875381;20126976;20213445;20360068;20404110;21113133;21139048;21864708;21890473;21906983;21988832;22261722;22863883;22869522;22939629;22990118;23000965;23184943;23440515;23752268;23824909;23935490;24255178;24816145;25036637 10910 Q9Y2Z0 ABBA01037066;AF132856;AJ344097;AK291402;AK292128;AK302363;AL139089;AMYH02028048;AMYH02028049;AMYH02028050;AY271314;AY321358;BC000911;BP225371;BT009798;CH471124;NG_029521;NM_001130912;NM_006704 AAD30062;AAH00911;AAP88800;AAQ01749;AAQ76039;ABM81871;ABM85034;BAF84091;BAF84817;BAG63688;CAC51433;EAW52043;EAW52044;EAW52045;EAW52046;NP_001124384;NP_006695;Q9Y2Z0 Hs.281902 1658871;1693580;2109907;2173398;5019022 1342;G42926;RH78334;SHGC-58486;SUGT1_9192 SGT1 OTTHUMP00000018461;OTTHUMP00000178675;SGT1B protein;protein 40-6-3;putative 40-6-3 protein;suppressor of G2 allele of SKP1 homolog;suppressor of G2 allele of SKP1, S. cerevisiae, homolog of APPROVED protein-coding HGNC:16987 604098 REVIEWED 1346021 SUGT1P3 SUGT1 pseudogene 3 INTERACTS WITH acetylsalicylic acid; methyl methanesulfonate 13 13 13 q14.11 22428579 22553283 - 41486023 41495910 - 40911887 40921774 - 6480464 12477932;14702039 283507 Q5T9E9 ABBA01021287;AF086053;AL157877;AMYH02027913;BC020814;NR_003365 Hs.442781;Hs.660718 1672308;1687045;1694668;1730427;1733294;1737511;1798190;2110961;2173398;2177163 1342;D13S1045;D13S188;D13S230E;D13S649;G43515;RH17529;RH91229;SHGC-32460;SLC25A15_1851 SUGT1L1 APPROVED pseudo ENSG00000239827 HGNC:20513 VALIDATED 1354374 SULT sulfotransferase 6816 HGNC:11452 1317700 SUGCT succinyl-CoA:glutarate-CoA transferase This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 7 7 7 p14.1 40162765 40891115 + 40174575 40900366 + 40134887 40860767 + 6480464;8554872 11829489;12477932;12690205;12853948;14702039;15489334;18926513;19197348;19913121;20379614;20628086;20877624;22277967;23793025;23893049;8889548;9847074 79783 B7Z568;H0Y4N1;H7C0H3;H7C1N0;Q9HAC7 AB014767;ABBA01058154;ABBA01058155;ABBA01058156;ABBA01058157;ABBA01058158;ABBA01058159;ABBA01058160;AC004988;AC005030;AC005160;AC006023;AC025536;AC026866;AC079149;AC092030;AF397013;AK021870;AK296048;AK298516;AK299133;AK307935;AK308764;AMYH02015574;AMYH02015575;AMYH02015576;AMYH02015577;AMYH02015578;AMYH02015579;AMYH02015580;AMYH02015581;AMYH02015582;AMYH02015583;AMYH02015584;BC098117;BC098261;BC098310;BC098318;BM668297;CH236951;CH471073;KF458440;KF458447;NG_023422;NM_001193311;NM_001193312;NM_001193313;NM_024728;XM_006715775 AAD26979;AAH98117;AAH98261;AAH98310;AAH98318;AAL76418;AAS01999;AAS02000;AAS07506;BAB13922;BAB87807;BAG58812;BAG61185;BAH12804;EAL24000;EAW94135;EAW94136;EAW94137;NP_001180240;NP_001180241;NP_001180242;NP_079004;Q9HAC7;XP_006715838 Hs.586313 1334988;1337116;1647697;1660147;1709192;1756009;1756017;1768225;1774911;1786408;1788226;1788228;1788230;1790583;2114900;2121014;2122409;2144746;2147290;2156746;2157444;2163473;2164890;2169785;2176911;2181354;2182944;5017539;5037552;5491250;7183801;7186497 123XB10;C7orf10;D1S3168;D7S1468;D7S1472;D7S1587;D7S1769;D7S1930;D7S2328;D7S2524;D7S2541;D7S3090;D7S3091;D7S3094;D8S2279;GDB:1317746;GDB:1317950;GDB:1318090;GDB:1318194;GDB:1318400;GDB:1318489;GDB:4585101;HSC210_(7Gr40mb);MARC_5901-5902:991939787:5;RH45639;SHGC-142826;SHGC-142831;SHGC-171985;SHGC-34401;SHGC-85764 C7orf10;DERP13;FLJ11808;FLJ53872;ORF19 CaiB/baiF CoA-transferase family protein C7orf10;OTTHUMP00000207229;OTTHUMP00000207230;OTTHUMP00000207231;Russel-Silver syndrome candidate;dermal papilla derived protein 13;dermal papilla-derived protein 13;succinate--hydroxymethylglutarate CoA-transferase;succinylCoA:glutarate-CoA transferase APPROVED protein-coding ENSG00000175600 HGNC:16001 09859 609187 REVIEWED 1312895 SULF2 sulfatase 2 Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008] 20 20 20 q12-q13.2 42999802 43129055 - 46286150 46415360 - 47657406 47786629 - 6480464;8554872 10574462;11549316;11780052;12107413;12168954;12368295;12477932;12975309;14702039;15489334;16192265;16331886;16417632;18507859;18687675;18937294;19190338;19520866;19855436;20707913;20725905;21040406;21347431;21441931;21599997;21890473;21968018;22158045;22293178;22410125;22623531;23418199;23457216;23480519;23950901;24124496;24278138;24359226;24726914 55959 B1AMP9;H0Y872;Q8IWU5 AB033073;ABBA01052709;ABBA01052710;AI824415;AK074483;AK075035;AK126452;AK308829;AL034418;AL121777;AL133001;AL354813;AL550624;AMYH02037179;AMYH02037180;AMYH02037181;AMYH02037182;AMYH02037183;AMYH02037184;AMYH02037185;AY101176;AY358461;BC020962;BC073790;BC090952;BC110538;BC110539;BX370010;CD673642;CH471077;CR749319;KF456928;NM_001161841;NM_018837;NM_198596;XM_005260458;XM_005260459;XM_006723827;XM_006723828;XM_006723829;XM_006723830 AAH20962;AAH73790;AAH90952;AAI10540;AAM76861;AAQ88826;ACE86802;ACE87489;ACE87784;ACT64451;BAA86561;CAB61349;CAH18174;EAW75690;EAW75691;EAW75692;EAW75693;EAW75694;EAW75695;NP_001155313;NP_061325;NP_940998;Q8IWU5;XP_005260515;XP_005260516;XP_006723890;XP_006723891;XP_006723892;XP_006723893 Hs.162016 1684208;1753285;1766395;2183843 RH93899;SHGC-149737;SHGC-85658;STS-N26808 DKFZp313E091;FLJ44488;FLJ90554;HSULF-2;KIAA1247;MGC126411 OTTHUMP00000031223;OTTHUMP00000031226;OTTHUMP00000215977;extracellular sulfatase Sulf-2 APPROVED protein-coding ENSG00000196562 HGNC:20392 18130 610013 VALIDATED 1321429 SUGP1 SURP and G patch domain containing 1 SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003] 19 19 19 p13.11 19291389 19335381 - 19387320 19431321 - 19276511 19320512 - 6480464;8554872 12176931;12226669;12477932;12594045;14702039;15057824;15489334;17332742;18029348;19060906;19656773;20686565;20864672;21139048;21988832;22365833;22412018;22939629;23974872;24097068;24457600 57794 B4DVK3;K7ELR6;K7EM86;K7ES12;K7ESM0;Q8IWZ8;V9GZ08 ABBA01051321;ABBA01051322;ABBA01051323;AC003967;AC004475;AC022543;AF521128;AK092745;AK096152;AK292085;AK294618;AK301119;AL137286;AL713757;AMYH02035752;AMYH02035753;AY072916;AY072917;BC001043;BC002986;BC063784;BC119728;BC119729;BC142988;CB960848;CH471106;DC363162;NM_172231;XM_005260002 AAC08052;AAH63784;AAI19729;AAI19730;AAI42989;AAL68960;AAL68961;AAN77123;BAF84774;BAG52606;BAG57801;BAG62715;CAB70678;CAD28528;EAW84808;EAW84809;EAW84810;EAW84811;EAW84812;NP_757386;Q8IWZ8;XP_005260059 Hs.515274 1783832 SHGC-156040 DKFZp434E2216;F23858;RBP;SF4 RNA-binding protein RBP;SURP and G-patch domain-containing protein 1;splicing factor 4 APPROVED protein-coding ENSG00000105705 HGNC:18643 10468 607992 VALIDATED 68509 SULT1A2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have been described. [provided by RefSeq, Jul 2008] 16 16 16 p12.1 990 6117 + 28603264 28611058 - 28591943 28597070 - 1300048;1580863;6480464 10617600;10720750;10762004;11154739;11207031;11535246;12373301;12419832;12469224;12477932;16133548;17425406;18259693;18632753;18992148;19343046;19692168;19915574;20214802;20417180;20529763;20935630;20936502;21890473;21906983;22623531;23128233;23358261;23922954;24816145;7581483;7889867;8033246;8661000;8697101;8912648;9034160;9119390;9566757 6799 E9PKR8;E9PKW4;E9PM76;P50226 ABBA01043647;AC020765;AMYH02031794;BC025763;BC052280;BC113727;BC113729;NG_032570;NM_001054;NM_177528;U28169;U28170;U33886;U34804;U72202;U76619;X78282;XM_006721076;XM_006721077 AAB08970;AAB09658;AAB09659;AAB09758;AAB18753;AAC51149;AAI13728;AAI13730;CAA55088;NP_001045;NP_803564;P50226;XP_006721139;XP_006721140 Hs.546304 1676500;1678517;1733218;1744863;1745595;1745597;2116432;5117558;5117664 D16S3176;GDB:574032;GDB:579633;GDB:594646;GDB:625839;GDB:625858;RH70266;RH80061;SHGC-60826 HAST4;MGC142287;MGC142289;P-PST;ST1A2;STP2;TSPST2 OTTHUMP00000045745;OTTHUMP00000236243;P-PST 2;aryl sulfotransferase 2;arylamine sulfotransferase;phenol sulfotransferase 2;phenol-preferring phenol sulfotransferase2;phenol-sulfating phenol sulfotransferase 2;phenolic-metabolizing (P) form of PST;sulfotransferase 1A2;sulfotransferase family 1a, member 2;thermostable phenol sulfotransferase APPROVED protein-coding ENSG00000197165 HGNC:11454 03187 601292 REVIEWED 733350 SULF1 sulfatase 1 This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 8 8 8 q13.2 66376556 66570879 + 70378859 70573147 + 69466624 69660912 + 1580863;6480464;8554872 10470851;11230166;12368295;12477932;12686563;14699503;14702039;14973553;15817123;16192265;16344560;16603650;16762634;16778174;17044071;17113870;17310998;17363371;17437011;17460759;17728400;18503048;18507859;18687675;19006069;19086847;19373441;19376607;19487294;19520866;19666466;19780053;19822709;19953087;20083228;20084279;20379614;20479257;20602915;20677014;20816204;20855470;21104785;21214932;21228115;21266348;21594647;21599997;21722266;21732829;21808097;21832049;21853101;21998595;22086394;22198210;22304734;22410212;22429964;22524839;22581228;22653794;22700218;22825572;22873647;22903264;22906644;23000194;23053899;23457216;23480519;23684551;23891937;23950901;24596063;24726914;24911625 23213 E9PI06;E9PJL8;E9PLS5;E9PPQ3;E9PS14;H0YDR1;Q8IWU6 AB029000;ABBA01041923;ABBA01041924;ABBA01041925;AC013746;AC022790;AC091047;AF545571;AK055467;AK055607;AK074873;AK095341;AK123744;AK307951;AL136772;AMYH02018160;AY101175;BC012997;BC068565;BX571746;CH471068;DA234578;DA726387;DA745191;KF458772;NM_001128204;NM_001128205;NM_001128206;NM_015170;XM_006716438;XM_006716439;XM_006716440;XM_006716441;XM_006716442 AAH12997;AAH68565;AAM76860;AAO33315;ACE86575;ACE87258;BAA83029;BAC11258;CAB66706;CAE11871;EAW86953;EAW86954;EAW86955;NP_001121676;NP_001121677;NP_001121678;NP_055985;Q8IWU6;XP_006716501;XP_006716502;XP_006716503;XP_006716504;XP_006716505 Hs.409602 1684862;1704506;1706480;1715545;1733490;1780160;2152731 D8S1059;RH121420;RH47887;RH98994;SHGC-154482;SHGC-81126;SHGC-83020 FLJ30905;FLJ38022;FLJ41750;HSULF-1;KIAA1077;SULF-1 OTTHUMP00000226760;OTTHUMP00000226761;OTTHUMP00000226762;extracellular sulfatase Sulf-1;sulfatase FP APPROVED protein-coding ENSG00000137573 HGNC:20391 15450 610012 VALIDATED 1347398 SULT1A3 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16; this gene and SULT1A4 arose from a segmental duplication. This gene is the most centromeric of the four sulfotransferase genes. Read-through transcription exists between this gene and the upstream SLX1A (SLX1 structure-specific endonuclease subunit homolog A) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010] 16 16 16 p11.2 1 4722 - 30210549 30215650 + 30199228 30204329 + 1580863;6480464;8552693 23462933 10336855;10543947;10608851;10617600;10720750;11154739;11535246;12228221;12424257;12477932;12761191;14622112;14702039;14871892;15358107;15489334;15752422;16083857;16344560;17002600;17425406;17433394;17876860;17891604;17908235;17963788;19122289;19131519;19171676;19178765;19447296;19646966;19679676;21168432;21832049;21900206;21906983;21963094;22352375;22949271;24039991;24136195;7695637;7695643;7802665;7829089;7961757;8093002;8117269;8187949;8363592;8912648;9034160 6818 H3BPL6;H3BRT0;P0DMM9;Q1ET61 AB111093;AB111094;AB111095;AB111096;AB111097;AB111098;AB111099;ABBA01013099;AC106782;AC244227;AI672638;AK298073;BC078144;BC132914;BC132920;BC144354;BC144355;BC171772;DA978913;L25275;NM_177552;U08032;U08099;U20499;U34199;U37686 AAA17723;AAA36523;AAA64490;AAA82126;AAA86536;AAC99987;AAH78144;AAI32915;AAI32921;AAI41505;AAI44355;AAI44356;AAI56740;AAI71772;ADR82917;BAE94927;BAE94928;BAE94929;BAE94930;BAE94931;BAE94932;BAE94933;BAG60362;NP_808220;P0DMM9 Hs.460558 1676706;1685391;1687692;1733218;1744201;1744409;1745599;1745601;1788776;5112303;5117514;5117558;5117664 D16S3176;GDB:435498;GDB:453889;GDB:574035;GDB:579633;GDB:594646;GDB:626005;GDB:626032;RH103211;RH133600;RH69023;RH80591;RH92261 HAST;HAST3;M-PST;MGC117469;ST1A3;ST1A3/ST1A4;ST1A5;STM;SULT1A4;TL-PST OTTHUMP00000045746;OTTHUMP00000045747;aryl sulfotransferase 1A3/1A4;catecholamine-sulfating phenol sulfotransferase;dopamine-specific sulfotransferase;monoamine-preferring sulfotransferase;monoamine-sulfating phenol sulfotransferase;monoamine-sulfating phenosulfotransferase;phenol sulfotransferase 1A5;phenol sulfotransferase 1A5*4;placental estrogen sulfotransferase;sulfokinase;sulfotransferase 1A3;sulfotransferase 1A3/1A4;sulfotransferase, monoamine-preferring;thermolabile (monoamine, M form) phenol sulfotransferase;thermolabile phenol sulfotransferase APPROVED protein-coding ENSG00000261052 HGNC:11455 07199 600641 REVIEWED 735435 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p12.1 27573787 27591759 + 28616908 28634907 - 28605587 28623586 - 1581436;1581437;1581438;1581439;1581441;1581442;1581446;1581447;1581448;1581449;1581451;1581452;1581453;1581454;1581455;1625563;1580863;1300048;2301046;2301048;2301051;2301050;2301040;2301044;2301045;2301049;2301047;6480464;5129558;8552693;8554872 10959796;11692076;12165038;12373301;12455060;12469224;14643027;14688021;14973106;15377847;15531517;15894657;15942020;16080486;16137826;16175316;16328031;16402077;16637266;16875543;16985250;17619904;18318428;18368507;18497059;19250197;23462933 10720750;10737800;10762004;11154739;11156380;11207031;11219777;11470991;11535246;11739018;11804685;12162852;12402313;12419790;12419832;12468438;12471039;12477932;12725421;12761191;12814450;12867416;12867492;14520706;14618622;14642079;14648207;14871892;15090717;15093672;15122594;15318931;15383623;15455371;15489334;15489335;15516026;15604994;15632378;15743503;15949571;15952058;15970794;15987423;16006997;16103451;16133548;16141802;16221673;16232327;16272171;16280036;16284375;16317586;16380991;16395669;16418064;16425401;16504378;16575574;16926176;16985032;17013894;17074589;17189289;17244352;17274372;17293380;17372239;17372243;17425406;17479406;17603900;17605044;17912498;17947222;17996038;18006944;18259693;18264785;18365755;18447907;18499698;18632753;18794456;18854828;18990750;19120511;19126640;19237513;19307236;19322015;19339270;19343046;19350537;19424794;19484729;19575027;19706609;19776291;19789190;19863350;19904771;19906068;19915574;19949855;19956635;20032816;20142249;20192879;20204402;20214802;20309015;20417180;20437850;20505544;20505990;20528568;20529763;20565970;20620409;20628863;20634891;20663177;20734064;20881232;20936502;21072184;21111704;21670965;21695180;21890473;21906983;21977969;22011087;22081606;22524828;22678655;22708928;22939629;23080433;23128233;23157889;23358261;23711090;24010997;24039991;24307569;24763827;7581483;7695643;7864863;8033246;8033270;8093002;8288252;8363592;8423770;8484775;8661000;8889548;8912648;8924211;9014197;9034160;9345314;9566757;9855620 6817 H3BMH9;H3BQX5;H3BRY5;H3BT96;P50225 AB062428;AB209149;ABBA01043645;ABBA01043646;AC020765;AJ007418;AL558375;AMYH02031794;AMYH02031795;BC000923;BC110887;BG482944;BG990719;BI459867;BI460081;BM927749;BM984308;BT007324;CV023878;L10819;L15346;L19955;L19999;NG_028128;NM_001055;NM_177529;NM_177530;NM_177534;NM_177536;U09031;U26309;U37025;U52852;U54701;U71086;X78283;X84654;XM_005255522;XM_006721078 AAA02935;AAA18613;AAA35562;AAA60595;AAA67895;AAA99892;AAB09597;AAB09759;AAC50480;AAC51816;AAH00923;AAI10888;AAP35988;ABM81921;ABM85098;BAB93491;BAD92386;CAA07495;CAA55089;CAA59147;NP_001046;NP_803565;NP_803566;NP_803878;NP_803880;P50225;XP_005255579;XP_006721141 Hs.567342;Hs.736805 1678517;1744863;1745591;1745595;1745597;5117558;5117664;5117873 GDB:574032;GDB:579633;GDB:594646;GDB:625673;GDB:625839;GDB:625858;GDB:625988;RH70266 HAST1/HAST2;MGC131921;MGC5163;P-PST;P-PST 1;PST;ST1A1;ST1A3;STP;STP1;TSPST1;ts-PST OTTHUMP00000162568;OTTHUMP00000162569;aryl sulfotransferase 1;phenol sulfotransferase 1;phenol-preferring phenol sulfotransferase1;phenol-sulfating phenol sulfotransferase 1;sulfotransferase 1A1;sulfotransferase family 1a, phenol-preferring, member 1;thermostable phenol sulfotransferase;thermostable phenol sulfotransferase1 APPROVED protein-coding ENSG00000196502 HGNC:11453 01372 171150 REVIEWED 1604886 SULT1A4 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16, this gene and SULT1A3 arose from a segmental duplication. Read-through transcription exists between this gene and the upstream SLX1B (SLX1 structure-specific endonuclease subunit homolog B) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010] 16 16 16 p11.2 680 2890 - 29471207 29476301 + 29459886 29464980 + 6480464;8552693 23462933 10720750;11154739;12477932;15358107;15752422;17425406;22939629;7961757;8117269;8363592;9034160 445329 H3BNY7;P0DMN0;Q1ET61 AB111093;AB111094;AB111095;AB111096;AB111097;AB111098;AB111099;AC133555;AC245044;AK298073;BC078144;BC132914;BC132920;BC144354;BC144355;BC171772;L25275;L34160;NM_001017390;U08032;U34199 AAA17723;AAA36523;AAC99987;AAH78144;AAI32915;AAI32921;AAI44355;AAI44356;AAI71772;BAE94927;BAE94928;BAE94929;BAE94930;BAE94931;BAE94932;BAE94933;BAG60362;NP_001017390;P0DMN0 Hs.460558;Hs.744871 1676706;1685391;1687692;1733218;1744201;1744409;1745599;1745601;1788776;5112303;5117514;5117558;5117664 D16S3176;GDB:435498;GDB:453889;GDB:574035;GDB:579633;GDB:594646;GDB:626005;GDB:626032;RH103211;RH133600;RH69023;RH80591;RH92261 FLJ54864;HAST3;M-PST;SLX1B-SULT1A4;ST1A3/ST1A4;ST1A4;SULT1A3;TL-PST OTTHUMP00000243886;aryl sulfotransferase 1A3/1A4;catecholamine-sulfating phenol sulfotransferase;monoamine-sulfating phenol sulfotransferase;phenol sulfotransferase;placental estrogen sulfotransferase;sulfokinase;sulfotransferase 1A3/1A4;sulfotransferase 1A4;sulfotransferase, monoamine-preferring;thermolabile phenol sulfotransferase APPROVED protein-coding ENSG00000213648 HGNC:30004 18659 615819 REVIEWED 1354463 SULT1B1 sulfotransferase family, cytosolic, 1B, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. However, the total genomic length of this gene is greater than that of other SULT1 genes. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 67945644 67979390 - 70591838 70626430 - 69726120 69760712 - 1299514;6480464 9443824 10720750;11154739;11329013;11368519;11535246;11688987;12477932;15489334;16804942;17425406;19343046;19898482;21044950;9034160;9463486 27284 D6RD70;D6RIA8;O43704 ABBA01022921;AC125239;AF184894;AMYH02009408;BC010895;BG461453;CH471057;D89479;NM_014465;U95726;XM_005265676;XM_005265677;XM_005265678 AAB65154;AAF05917;AAH10895;BAA24547;EAX05595;NP_055280;O43704;XP_005265733;XP_005265734;XP_005265735 Hs.129742 MGC13356;ST1B1;ST1B2;SULT1B2 OTTHUMP00000159773;sulfotransferase 1B1;sulfotransferase 1B2;sulfotransferase family cytosolic 1B member 1;thyroid hormone sulfotransferase APPROVED protein-coding HGNC:17845 07088 608436 REVIEWED 1314184 SULT1C2 sulfotransferase family, cytosolic, 1C, member 2 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q12.3 103213362 103234637 + 108905095 108926371 + 108288639 108309915 + 1580863;6480464 10481272;10720750;10783263;11077054;11154739;11535246;11740338;12477932;15489334;16341674;16507781;16804942;17425406;18029348;19343046;19898482;20453000;20819778;21044950;21139048;21988832;24335393;7642552;9034160;9169148;9635888;9852044 6819 B4DLP0;B8ZZF7;C9JSR0;H7BZ17;H7C420;O00338 AA856596;AB008164;ABBA01000753;AC019100;AF026303;AF186251;AF186252;AF186253;AF186254;AF186255;AF186256;AF186259;AF186262;AI986284;AK297086;AK298306;AK313193;AL832145;AMYH02004505;BC005353;BM849361;BT006951;CH471182;NM_001056;NM_176825;R86241;U66036;XM_005264013 AAC00409;AAC51285;AAF72799;AAF72800;AAF72801;AAF72802;AAF72803;AAF72804;AAF72805;AAF72806;AAH05353;AAP35597;AAY14790;BAA28346;BAG36010;BAG59602;BAG60560;EAW53889;EAW53890;NP_001047;NP_789795;O00338;XP_005264070 Hs.436123 1336693;2157484;2160954;5014051;5015619;5022200;5022651;5037552;5038511;5093474;7185382 A009P25;D11S2921;D11S3114;D2S340;D8S2278;D8S2279;G32739;L18426;RH17525;WI-16746 ST1C1;ST1C2;SULT1C1;humSULTC2 OTTHUMP00000161571;OTTHUMP00000161572;OTTHUMP00000203304;OTTHUMP00000203390;OTTHUMP00000203867;SULT1C#1;sulfotransferase 1C1;sulfotransferase 1C2;sulfotransferase family, cytosolic, 1C, member 1 APPROVED protein-coding ENSG00000198203 HGNC:11456 03858 602385 REVIEWED 4144689 SULT1C2P1 sulfotransferase family, cytosolic, 1C, member 2 pseudogene 1 2 2 2 q12.3 103246960 103278521 + 108938694 108970255 + 108322238 108353799 + 6480464 14676822;14702039 151234 ABBA01000753;ABBA01000754;AC019100;AK056906;AMYH02004505;NR_037191 Hs.447681 1335835 D2S1889 SULT1C1P pseudo ENSG00000237223 HGNC:33545 VALIDATED 1606856 SULT1C3 sulfotransferase family, cytosolic, 1C, member 3 ENCODES a protein that exhibits alcohol sulfotransferase activity; INVOLVED IN sulfur compound metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH benzo[a]pyrene; bisphenol A; calcitriol 2 2 2 q12.3 103171922 103190078 + 108863651 108881807 + 108247195 108265351 + 6480464;8554872 14676822;15815621;17425406;17936463;20379614;24335392;24335393 442038 Q6IMI6 ABBA01000753;AC019100;AMYH02004505;BK001432;NM_001008743 AAI46363;DAA01770;DAA01771;NP_001008743;Q6IMI6 Hs.535156 ST1C3 OTTHUMP00000203449;sulfotransferase 1C3 protein-coding ENSG00000196228 HGNC:33543 18131 PROVISIONAL 1605577 SULT1D1P sulfotransferase family, cytosolic, 1D, member 1, pseudogene Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008] 4 4 4 q13.3 68010915 68032914 - 70657591 70679590 - 69791873 69813872 - 6480464 11688987;14676822;18085818;20210993 133150 ABBA01022921;AC108941;AMYH02009408;NG_002642 2122784 SHGC-9349 SULT1D1 APPROVED pseudo HGNC:30659 INFERRED 1347018 SULT1C4 sulfotransferase family, cytosolic, 1C, member 4 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. [provided by RefSeq, Jul 2008] 2 2 2 q12.3 103302687 103312533 + 108994413 109004296 + 108377957 108387840 + 1580863;6480464 10720750;10783263;11154739;11535246;12477932;15815621;17425406;9034160;9852044 27233 O75897 ABBA01000754;AC068941;AF186263;AK297851;AK298755;AMYH02004505;BC058861;BC125043;CH471182;DQ987914;NM_006588;XM_005263919 AAF72810;AAH58861;AAI25044;AAY14742;ABI75348;BAG60183;BAG60897;EAW53885;EAW53886;NP_006579;O75897;XP_005263976 Hs.312644 2218066 SULT1C2_3157 MGC149521;MGC34422;ST1C4;SULT1C;SULT1C2 OTTHUMP00000161573;OTTHUMP00000203388;OTTHUMP00000203389;SULT1C#2;sulfotransferase 1C2;sulfotransferase 1C4;sulfotransferase family, cytosolic, 1C, member 2;sulfotransferase family, cytosolic, 1C, member C2 APPROVED protein-coding ENSG00000198075 HGNC:11457 07461 608357 REVIEWED 1351097 SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008] 4 4 4 q13.1 68060253 68079193 - 70706930 70725870 - 69841212 69860152 - 1580863;2301040;2302564;1581439;2302565;2302563;6480464;6893583;6907045;8552693 15894657;16895976;16908442;17372239;18318428;21693170;23462933 10541560;10720750;11154739;11535246;11688987;11884392;12477932;12782487;14507642;14556660;15188402;15355916;15489334;16169070;16189514;16418064;16969590;16985250;17187396;17293380;17425406;17661084;18029348;18467089;18794126;18794456;18831980;19343046;19429440;19551860;19776291;19898482;20025931;20142249;20214802;20379614;20381444;20429582;20505544;21073915;21543429;21548389;21764778;21828262;22197379;22380844;23384540;23736977;24039991;24567372;7779757;7961757;8185618;8530066;8603401;8971138;9034160;9348232 6783 H0Y8G0;P49888;Q53X91 ABBA01022921;AC108941;AK310845;AK312236;AMYH02009408;AMYH02009409;AY436634;BC027956;CH471057;CR407621;CS691411;NM_005420;S77383;U08098;U20521;U55764;Y11195 AAA82125;AAB34601;AAB51658;AAC50286;AAH27956;AAQ97179;BAG35169;CAA72079;CAG28549;CAP12208;EAX05597;NP_005411;P49888 Hs.479898 1674087;1676538;1768032;2109909;5016781 RH71211;SHGC-10625;SHGC-67307;SHGC-67359;SULT1E1_8653 EST;EST-1;MGC34459;ST1E1;STE OTTHUMP00000159769;estrogen sulfotransferase;estrone sulfotransferase;sulfotransferase 1E1;sulfotransferase, estrogen-preferring APPROVED protein-coding ENSG00000109193 HGNC:11377 08966 600043 REVIEWED 1344997 SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010] 19 19 19 q13.3 45179460 45195376 - 48373723 48389654 - 47870466 47886397 - 1580863;2325883;5129555;6480464;6893649;6893648;5129558;6907045 16099924;16617014;18821018;19250197;22542949 10541560;10720750;10775806;10854859;11172807;11535246;11950791;11988089;11990382;12167565;12399026;12477932;14573603;1520333;15388788;15489334;1569919;15713538;15878968;1588921;16360722;16469813;17276571;17425406;17426092;18042734;18505908;18656962;18684447;19343046;19420132;19598235;20102295;20214802;21513704;21533175;21841322;21988832;22445027;2268288;22797925;23132913;23211525;23256751;23362278;23436881;23444386;23488731;23773910;23861462;7589785;7598806;7678732;7710689;7736787;8142314;8299591;8575776;9034160 6822 A8K015;Q06520 ABBA01041062;AC024582;AC124853;AK289380;AK313415;AMYH02036273;AMYH02036274;BC020755;BG563083;BX509490;CH471126;EU522670;KF459578;L02337;L20000;L36196;NG_016745;NM_003167;S43859;S43861;U08024;U08025;U13061;X70222;X84816 AAA17749;AAA17750;AAA35758;AAA75491;AAB23169;AAC51353;AAH20755;ABM82091;ABM85272;ACB21041;BAF82069;BAG36209;CAA49755;CAA59274;EAW57516;EAW57517;NP_003158;Q06520 Hs.515835 1744163;1744165;1777256;2123110;2154198;5022578;5037552 D1S1423;D8S2279;GDB:433813;GDB:433815;RH11574;SHGC-11998;STS-U13061 DHEA-ST;HST;ST2;ST2A1;ST2A3;STD;hSTa DHEAS;OTTHUMP00000222076;alcohol/hydroxysteroid sulfotransferase;bile salt sulfotransferase;bile-salt sulfotranasferase 2A1 APPROVED protein-coding ENSG00000105398 HGNC:11458 00502 125263 REVIEWED 1318906 SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 45920305 45967557 + 49055429 49102684 + 48552172 48599427 + 6480464;6907045;8554872 10720750;11154739;11416019;11457664;11535246;11594786;12145317;12399026;12477932;12923182;14676143;14702039;14741047;15057824;15063762;15140224;15489334;15878639;15953604;16189514;17207965;17347498;17425406;17496163;17626250;18586095;19060904;19243756;19343046;20214802;20329768;21146170;21840698;23579488;23593328;24020383;24277929;9034160;9799594 6820 O00204 ABBA01032982;ABBA01032983;ABBA01032984;ABBA01032985;AC008403;AK096418;AMYH02036302;AMYH02036303;BC034694;CH471177;NG_029063;NM_004605;NM_177973;U92314;U92315;U92316;U92317;U92318;U92319;U92320;U92321;U92322;XM_005259182 AAC78498;AAC78499;AAC78553;AAC78554;AAH34694;ADQ32321;EAW52354;EAW52355;NP_004596;NP_814444;O00204;XP_005259239 Hs.369331 5015404;5016478;5016596 GDB:434012;GDB:631802;L17705 HSST2;ST2B1 alcohol sulfotransferase;hydroxysteroid sulfotransferase 2;sulfotransferase 2B1;sulfotransferase family cytosolic 2B member 1 APPROVED protein-coding ENSG00000088002 HGNC:11459 04991 604125 REVIEWED 736677 SULT4A1 sulfotransferase family 4A, member 1 This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 28131680 28168899 - 44220387 44258378 - 43824507 43862498 - 68861;1580863;6480464;8554872 10698717 10591208;10720750;11154739;11535246;12039030;12477932;12529303;14623933;14702039;15461802;15489334;16152568;17425406;18823757;19125109;19343046;19439498;20819778;21044950;21521020;23386860;9034160 25830 B7Z2E1;F8WE22;Q9BR01 ABBA01014583;AF115311;AF176342;AF188698;AF251263;AK091700;AK294622;AK295399;AK313048;AL590119;AL832543;AMYH02038480;AMYH02038481;BC022459;BC028171;BC030665;CH471138;CR456588;NM_014351;Z97055 AAF21970;AAF61197;AAF98152;AAH22459;AAH28171;AAH30665;AAK64595;ABM83299;ABM86509;BAG35880;BAH11827;BAH12056;CAC34872;CAG30474;CAK54619;CAK54918;EAW73317;EAW73318;EAW73319;EAW73320;NP_055166;Q9BR01 Hs.189810 1334748;1661918;1676328;1730557;1747533;1747535;1747537;1747547;1747549;1747551;1772693;1798234;2119670;2119672 A001X01;A003P41;D22S1012E;D22S1165;D22S297;G19733;G65391;G65392;G65393;G65394;G65436;G65437;IB1320;SULT4A1_2458 BR-STL-1;BRSTL1;DJ388M5.3;MGC40032;NST;ST4A1;SULTX3;hBR-STL;hBR-STL-1 OTTHUMP00000180667;OTTHUMP00000197813;brain sulfotransferase-like protein;brain sulphotransferase-like;nervous system cytosolic sulfotransferase;nervous system sulfotransferase;sulfotransferase 4A1;sulfotransferase-related protein APPROVED protein-coding ENSG00000130540 HGNC:14903 07462 608359 REVIEWED 1626598 SULT6B1 sulfotransferase family, cytosolic, 6B, member 1 ENCODES a protein that exhibits sulfotransferase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH bisphenol A 2 2 2 p22.2 37235972 37256698 - 37394963 37423230 - 37167820 37196087 - 6480464;8554872 12477932;14676822;15815621;17425406;20832056;23974872 391365 C9JFH2;Q6IMI4 ABBA01074978;AC007390;AC007899;AMYH02003614;AMYH02003615;AY289770;AY289771;AY289772;AY289773;AY289774;AY289775;BC140797;BC144573;BC144574;BK001437;CH471053;NM_001032377;XM_005264307;XM_005264308 AAI40798;DAA01772;EAX00405;NP_001027549;Q6IMI4;XP_005264364;XP_005264365 Hs.631892 ST6B1 OTTHUMP00000201330;sulfotransferase 6B1;sulfotransferase SULT6B1;thyroxine sulfotransferase protein-coding ENSG00000138068 HGNC:33433 PROVISIONAL 1320552 SUMF1 sulfatase modifying factor 1 This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 3 3 3 p26.1 4340773 4447046 - 4402829 4508966 - 3782503 4467282 - 1599192;1580863;6480464;7240710;8554872;8699517 12757705 12477932;12757706;12975309;14702039;15146462;15489334;15657036;15907468;15962010;16303743;16344560;16368756;17206939;17446859;17657823;17932120;18157819;18178549;18305113;18508857;18509892;18579805;19262745;20802204;21224894;21963094;23288839;24024966;24501781;8012384 285362 E9PF05;F5GXA0;Q8NBK3 AB448737;ABBA01020470;AC018822;AC023480;AC023483;AC023484;AC024167;AC024168;AC034191;AK057983;AK075459;AK094111;AK295240;AK302018;AMYH02006182;AY208752;AY323910;AY358092;BC017005;BC110862;BC121122;BC121123;BG705404;CA413741;CH471055;CQ866665;DA844846;KF454952;KF457530;KF457535;KF457536;NG_016225;NM_001164674;NM_001164675;NM_182760;XM_006713118;Z62057;Z65851 AAH17005;AAI10863;AAI21123;AAI21124;AAO34683;AAP86217;AAQ88459;BAB71625;BAC11634;BAG58233;BAG63417;BAH11168;CAH25965;EAW63906;EAW63907;NP_001158146;NP_001158147;NP_877437;Q8NBK3;XP_006713181 Hs.350475 1673981;1704956;1775311;2106667;2116654;2116656;5014051;5022651;5037552 336XF5;A005O21;D11S2921;D8S2278;D8S2279;G20376;SHGC-76663;SHGC-77977;SUMF1__5353 AAPA3037;FGE;MGC131853;MGC150436;UNQ3037 C-alpha-formylglycine-generating enzyme 1;FGly-generating enzyme;OTTHUMP00000115300;OTTHUMP00000207086;OTTHUMP00000207088;OTTHUMP00000207089;sulfatase-modifying factor 1 APPROVED protein-coding ENSG00000144455 HGNC:20376 06399 272200;607939 REVIEWED 1349479 SUMF2 sulfatase modifying factor 2 The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 q11.1 67185316 67201269 + 56131700 56148365 + 56064007 56080672 + 1580863;6480464;8554872 12477932;12757705;12757706;12853948;12975309;14563551;15231748;15342556;15489334;15687489;15708861;15962010;16169070;16303743;16344560;18266766;19322201;19739097;20000738;21078624;21890473;21906983;22190034;24250222;24324551;24816145;8889548 25870 A8MXB9;C9J660;C9JL30;E9PBT8;E9PG02;F8WA42;F8WCW9;F8WES7;F8WEV7;F8WEX5;H7C3B2;J3KQJ1;J3QT17;Q8NBJ7 ABBA01061849;ABBA01061850;AC092101;AF075046;AK075477;AK297042;AK297793;AK298605;AK300488;AK301627;AL050037;AMYH02015749;AMYH02015750;AY323911;AY359103;BC000224;BC006159;BC015600;BC065222;BC084539;BC111092;BM423367;BP256067;BP296294;CA439848;CF131206;CH471140;CR936749;CR936757;CS051309;CX164099;DA130450;DA917807;DA924174;DB010869;NM_001042469;NM_001042470;NM_001130069;NM_001146333;NM_015411;XM_006715680;XR_246509;XR_246510 AAH00224;AAH06159;AAH15600;AAH84539;AAI11093;AAP86218;AAQ89461;AAS07452;BAC11643;BAG59569;BAG60133;BAG60789;BAG62203;BAG63112;CAB43247;CAI72149;EAX07975;EAX07976;EAX07977;EAX07978;EAX07979;EAX07980;EAX07981;EAX07982;EAX07983;EAX07984;EAX07985;EAX07986;NP_001035934;NP_001035935;NP_001123541;NP_001139805;NP_056226;Q8NBJ7;XP_006715743 Hs.279696 1686336;1725627;1725771;1847008;2127921;2147282;5015861;5024649;5037552;5109281;7185938 D10S16;D1S1425;D8S2279;G62070;G62095;RH46930;RH65154;RH65370;RH93783;SHGC-32082 DKFZp566I1024;DKFZp686I1024;DKFZp686L17160;DKFZp781L1035;MGC99485;pFGE C-alpha-formyglycine-generating enzyme 2;C-alpha-formylglycine-generating enzyme 2;OTTHUMP00000159739;OTTHUMP00000208555;OTTHUMP00000208556;OTTHUMP00000208560;OTTHUMP00000208561;OTTHUMP00000208562;OTTHUMP00000208571;OTTHUMP00000209372;OTTHUMP00000209373;OTTHUMP00000209374;paralog of the formylglycine-generating enzyme;sulfatase-modifying factor 2 APPROVED protein-coding ENSG00000129103 HGNC:20415 06400 607940 REVIEWED 1601685 SUMO1P1 SUMO1 pseudogene 1 INTERACTS WITH 17beta-estradiol 20 20 20 q13.2 49195682 49196894 - 52491037 52492248 - 53874498 53875709 - 6480464 12383504;12477932;21906983;22885925;24722188;9465300;9671742 391257 ABBA01052865;AC005220;AMYH02037303;BC065723;NR_002189 Hs.449977 1646735 WI-16748 PIC1L;UBL2;UBL6 pseudo HGNC:33148 PROVISIONAL 1603799 SUMO1P2 SUMO1 pseudogene 2 1 1 1 q24.2 141977158 141978092 + 168867347 168868281 + 168898109 168899043 + 12383504;9465300 474337 ABBA01027957;AL135926;AMYH02002111;NG_004725 bA375F2.1 pseudo HGNC:33149 INFERRED 1601782 SUMO1P3 SUMO1 pseudogene 3 (functional) INTERACTS WITH hydrogen peroxide 1 1 1 q22 133355818 133357027 + 160287055 160288264 + 160317265 160318474 + 6480464 12383504;23996296;8889549;9465300 474338 AA021599;ABBA01016612;AL513282;AMYH02002024;NR_002190 Hs.621179 1686514;2181063 D4S3307;RH25959 APPROVED pseudo HGNC:33150 PROVISIONAL 1603798 SUMO1P4 SUMO1 pseudogene 4 19 19 19 q13 46645132 46646598 - 49778283 49779756 + 49275026 49276499 + 12383504;9465300 101290502 ABBA01032935;AC011450;AMYH02036315;AMYH02036316;NG_033172 pseudo HGNC:33151 INFERRED 2292053 SUMO1P5 SUMO1 pseudogene 5 5 5 5 q23 118527174 118534791 + 122571664 122579281 + 123235970 123243587 + 12383504;9465300 474341 ABBA01068944;AC010493;AMYH02012098;NG_021192 pseudo HGNC:33152 INFERRED 1315807 SUMO1 small ubiquitin-like modifier 1 This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] 2 2 2 q33 196822670 196855115 - 203070903 203103322 - 202206180 202238599 - 1642482;6480464;7240710;8699517;8554872 17486098 10085161;10187798;10212234;10217437;10535925;10562557;10574707;10655495;10694430;10759568;10788439;10799485;10862613;10871618;10961991;10964520;11078523;11080164;11112409;11129635;11160742;11278381;11313457;11384992;11420669;11500040;11514557;11583632;11709553;11716541;11731474;11735126;11739688;11779867;11792325;11842245;11867732;11889051;11901159;11907324;11948183;11960997;11997515;12032081;12060666;12072434;12144530;12149243;12150977;12161447;12177000;12192048;12193561;12200128;12223491;12297306;12354770;12370286;12383504;12388818;12393906;12419227;12439742;12477932;12511558;12526767;12529333;12552083;12565818;12590135;12606074;12615929;12621041;12626745;12631292;12633878;12646186;12663783;12665592;12679040;12727872;12740389;12761214;12769861;12782728;12788062;12810706;12813045;12832072;12855578;12887893;12917636;12924945;14500712;14500761;14514699;14516784;14527952;14559918;14563852;14609633;14637113;14651848;14673145;14701874;14752048;14992729;15016812;15017387;15037602;15060166;15064418;15105549;15123615;15123625;15144954;15161980;15171703;15173587;15175327;15208321;15220454;15229220;15242646;15272016;15296745;15327968;15337742;15355965;15355988;15456902;15465032;15465831;15469925;15487983;15489334;15507114;15539951;15546615;15561718;15572661;15576338;15592428;15608651;15613319;15637059;15660128;15707587;15723079;15782135;15788563;15806172;15815621;15823533;15824120;15831457;15857832;15876864;15876874;15881673;15882793;15882978;15896780;15907800;15923626;15931224;15952105;15958389;15959518;15961505;15983381;16029420;16030353;16055710;16061479;16098147;16112644;16117725;16120648;16122737;16125395;16148010;16154161;16166628;16169070;16189514;16194093;16204249;16212558;16236267;16253240;16332688;16352666;16360037;16415059;16421094;16424386;16428449;16428803;16428860;16442531;16443219;16460827;16464864;16475184;16478538;16478998;16484498;16494873;16501610;16524884;16563226;16568089;16600910;16631117;16651613;16678795;16690127;16712526;16731528;16760465;16763556;16820290;16904644;16906147;16955485;16990542;17000644;17000875;17005699;17027752;17036045;17060450;17060459;17081983;17081985;17081986;17087506;17087659;17099698;17164289;17314004;17320104;17344210;17353931;17360386;17369817;17391059;17466333;17491593;17498654;17509614;17525163;17548468;17549794;17595526;17646165;17671677;17696781;17704809;17823119;17848550;17932034;17938407;17956732;17976381;18025037;18063693;18082607;18086888;18093978;18211895;18211901;18239466;18348865;18359863;18381449;18403372;18404132;18408014;18408734;18472161;18474224;18538659;18562626;18572193;18579533;18583933;18583959;18592385;18617892;18625722;18632848;18655774;18656483;18660489;18681895;18684836;18689799;18691969;18694876;18706886;18707152;18762900;18781797;18794353;18836734;18946085;18948745;18978678;18983974;19015637;19029252;19041634;19046432;19057511;19111660;19217413;19218564;19223394;19246003;19251700;19287951;19297320;19307308;19322201;19380586;19383828;19384898;19407830;19416967;19465479;19471022;19473992;19497852;19553542;19565496;19596686;19597476;19625650;19680224;19684601;19692572;19744555;19843541;19859084;19889771;19913121;19917317;19919826;19937600;19946338;19955185;19995069;20016594;20016603;20026589;20026656;20065354;20145208;20188669;20194620;20233849;20300531;20351170;20359522;20360068;20501649;20519406;20533263;20544801;20555024;20584900;20596523;20616536;20628086;20634891;20661221;20663916;20671745;20676127;20711182;20711444;20718938;20719936;20738159;20797634;20802522;20805487;20811994;20826694;20861261;20881090;20927612;20932475;20932933;20935639;20972456;21039605;21044801;21047957;21057547;21062750;21084637;21098080;21110914;21123177;21139048;21145359;21148299;21156324;21167178;21174150;21187340;21189065;21192925;21203974;21252943;21266332;21268066;21284855;21288202;21305000;21316347;21317457;21336309;21354147;21383010;21402697;21454548;21474068;21490953;21518904;21527249;21527745;21545853;21554500;21563299;21606198;21616059;21641618;21642969;21683690;21693764;21722636;21777808;21779164;21791615;21816224;21829513;21829689;21878624;21890473;21900893;21906983;21931855;21940674;21949651;21957283;21968017;21983723;21987572;21988832;22155184;22162396;22164242;22167194;22194612;22194619;22203040;22214662;22227369;22234371;22354964;22370726;22374677;22379092;22393046;22398289;22403398;22406621;22411991;22457066;22467880;22493095;22505616;22505724;22508508;22509369;22555612;22578841;22586270;22612509;22651256;22661230;22713753;22731716;22751501;22863883;22875967;22878415;22895527;22905217;22910413;22930759;22939629;22942279;22975420;22991139;23000965;23012367;23028697;23077236;23078246;23086935;23092970;23128241;23131550;23150668;23152501;23155000;23160374;23211528;23229893;23243001;23264041;23284737;23369348;23382880;23383273;23395904;23404503;23407422;23504328;23530056;23543742;23546875;23569248;23595631;23604351;23686912;23770046;23772552;23788427;23830076;23860269;23871147;23970103;23974956;23990779;23994136;23996296;24068740;24072711;24086424;24151981;24174529;24190887;24260396;24309115;24344134;24352468;24362530;24637324;24654937;24656128;24753249;24818994;24819975;24844634;24882209;24907272;24943844;25027693;25059663;8806687;8812453;8889548;8906799;8921390;8978815;9019411;9119407;9162015;9353268;9412458;9427741;9442102;9452416;9456312;9465300;9497385;9654451;9658103;9734360;9740801;9756909;9885291;9891849;9920803 7341 B8ZZ67;B8ZZJ0;B8ZZN6;B9A032;F8WBI1;P63165 AA401634;AB062294;ABBA01062554;AC079354;AI815216;AK311840;AMYH02005558;BC005899;BC006462;BC053528;BC066306;BG503431;BG569821;BQ930026;BT006632;BU532734;CA313671;CH471063;CR542147;CR542156;NG_011679;NM_001005781;NM_001005782;NM_003352;U38784;U61397;U67122;U72722;U83117;X99586 AAB39999;AAB40388;AAB40390;AAC50733;AAC50996;AAH06462;AAH53528;AAH66306;AAP35278;AAY24035;ABM84136;ABM87155;BAB93477;BAG34782;CAA67898;CAG46944;CAG46953;EAW70304;EAW70305;EAW70306;EAW70307;NP_001005781;NP_001005782;NP_003343;P63165 Hs.81424 1682245;1710104;1744281;2116775 A007E47;GDB:451559;RH26240;SHGC-82097 DAP-1;DAP1;GMP1;OFC10;PIC1;SENP2;SMT3;SMT3C;SMT3H3;SUMO-1;UBL1 GAP modifying protein 1;OTTHUMP00000163740;OTTHUMP00000202403;OTTHUMP00000202404;OTTHUMP00000202405;OTTHUMP00000202406;OTTHUMP00000202408;OTTHUMP00000202409;OTTHUMP00000202410;SMT3 homolog 3;SMT3 suppressor of mif two 3 homolog 1;sentrin;small ubiquitin-related modifier 1;smt3 suppressor of mif two 3 homolog 1 (yeast);ubiquitin-homology domain protein PIC1;ubiquitin-like protein SMT3C;ubiquitin-like protein UBL1 APPROVED protein-coding ENSG00000116030 HGNC:12502 03554 601912;613705 REVIEWED 1350239 SUMO2P1 SUMO2 pseudogene 1 INTERACTS WITH valproic acid 6 6 6 p22.1 31209315 31210365 - 29603231 29604281 - 29635454 29636504 - 6480464 22118674 285829 ABBA01038033;AL031983;AL645936;AL662826;AL929591;AMYH02013414;BX120002;CR388210;CR388408;CR759766;CR936483;NG_002750;NG_029101 SMT3Bp;SMT3H2P;SUMO2P;dJ271M21 APPROVED pseudo HGNC:13985 INFERRED 1346569 SUMO2 small ubiquitin-like modifier 2 This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 69756196 69771477 - 73163825 73179098 - 75167730 75183003 - 6480464 10692421;11029585;11283016;11451954;11489887;11731474;11889051;12161447;12383504;12477932;12590135;12626745;12665592;12810706;12924945;15105549;15175327;15272016;15296745;15383276;15456902;15479240;15487983;15489334;15806172;15870296;15940266;15958389;16055710;16169070;16236267;16356933;16424386;16428449;16442531;16475184;16494873;16524884;16553580;16567619;16600910;16608850;16620772;16626738;16713569;16862185;16904644;16955485;17000644;17000875;17012228;17077080;17081986;17099698;17164289;17369852;17491593;17696781;17938407;18081309;18374647;18381449;18408734;18424718;18442052;18538659;18565875;18644859;18681895;18694876;18708356;18794353;18806873;18854154;18946085;19029252;19041634;19217413;19307308;19322201;19332021;19394292;19471022;19553342;19597476;19615732;19635839;19638612;19684601;19843541;19919826;20016594;20016603;20026589;20029837;20181954;20188669;20212317;20663916;20696768;20719936;20797634;20802522;20826694;20881090;20935639;20943951;21062750;21098080;21139048;21145359;21147198;21148299;21252943;21291420;21316347;21362625;21383010;21454548;21554500;21616059;21624955;21693764;21746851;21779164;21878624;21890473;21900206;21900752;21906983;21940674;21949651;21963094;21987572;21988832;21998312;22034919;22053931;22118674;22155184;22194612;22203040;22306003;22354964;22398289;22467880;22505616;22505724;22578841;22661230;22689573;22797925;22810585;22825850;22878415;22895527;22922005;22930759;22939629;22942279;22942423;23000965;23012367;23077236;23078246;23086935;23092970;23128241;23155000;23192983;23211528;23284737;23358114;23383273;23417673;23504328;23530056;23543742;23552691;23560854;23595631;23751493;23860269;23871147;23990779;23994136;24018422;24068740;24096733;24151981;24190887;24257756;24260396;24267727;24278015;24369422;24582501;24637324;24654937;24656128;24753249;24811749;24816145;24818994;24844634;24882209;24907272;24912682;24930734;24969970;25015289;25027693;8125298;8630065;9119407;9452416;9556629 6613 J3KRH1;P61956 ABBA01028811;ABBA01028812;AC022211;AK024823;AK225090;AK225263;AK311837;AMYH02033986;BC008450;BC016775;BC022340;BC062713;BC068465;BC070159;BC071645;BC071646;BC107853;BF700114;BG778261;CH471099;L76416;NM_001005849;NM_006937;X99585 AAD45399;AAH08450;AAH16775;AAH22340;AAH62713;AAH68465;AAH70159;AAH71645;AAH71646;AAI07854;ABM83962;ABM87276;BAG34779;CAA67897;EAW89249;EAW89250;NP_001005849;NP_008868;P61956 Hs.380973;Hs.546298 5124438 RH47248 HSMT3;MGC117191;SMT3B;SMT3H2;SUMO3;Smt3A SMT3 homolog 2;SMT3 suppressor of mif two 3 homolog 2;sentrin 2;small ubiquitin-related modifier 2;smt3 suppressor of mif two 3 homolog 2 (yeast);ubiquitin-like protein SMT3A;ubiquitin-like protein SMT3B APPROVED protein-coding ENSG00000188612 HGNC:11125 04332 603042 REVIEWED 7392677 SUMO2P11 SUMO2 pseudogene 11 4 4 4 74890594 74891220 + 77589322 77589948 + 76668169 76668795 + 100422250 ABBA01063364;AC107051;AMYH02009516;NG_025228;NG_028077 pseudo HGNC:49349 INFERRED 7391662 SUMO2P19 SUMO2 pseudogene 19 8 8 8 99439163 99439743 - 103254266 103254846 - 102242038 102242618 - 100422265 ABBA01037602;AMYH02018526;AP002907;NG_026064 pseudo HGNC:49357 INFERRED 5684579 SUMO2P2 SUMO2 pseudogene 2 9 9 p21.3 23632104 23632353 + 23632106 23632355 + 100859924 ABBA01065155;AL445623;AMYH02019306;NG_031946 APPROVED pseudo HGNC:39012 INFERRED 7389046 SUMO2P17 SUMO2 pseudogene 17 17 17 17 q21.32 43406549 43406834 - 46952270 46952552 - 48874908 48875190 - 100128010 ABBA01041180;AC068531;AMYH02033549;NG_030097 pseudo HGNC:49358 INFERRED 7389848 SUMO2P20 SUMO2 pseudogene 20 8 8 70899607 70899989 - 69987370 69987754 - 101927327 ABBA01041932;AC090574;AMYH02018162 pseudo HGNC:49355 MODEL 4144409 SUMO2P4 SUMO2 pseudogene 4 5 5 5 q13.1 65364003 65364287 - 68364752 68365027 - 69068925 69069200 - 100288757 ABBA01048290;AC010273;AMYH02011465;NG_028715 APPROVED pseudo HGNC:39014 INFERRED 4146108 SUMO2P5 SUMO2 pseudogene 5 5 5 74521249 74521493 + 75225424 75225668 + 100526738 ABBA01061942;AC008769;AMYH02011583;NG_027890 APPROVED pseudo HGNC:39015 INFERRED 4144300 SUMO2P3 SUMO2 pseudogene 3 7 7 7 p11.2 3045 3993 - 55799717 55800706 + 55732024 55733013 + 9847074 652489 ABBA01061821;AC091812;AMYH02015737;NG_005815 APPROVED pseudo HGNC:39013 INFERRED 4144231 SUMO2P7 SUMO2 pseudogene 7 17 17 17 q21.33 44774055 44774342 + 48313206 48313490 + 50235845 50236129 + 100131823 ABBA01041234;AC015909;AMYH02033586;NG_027891 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 7 APPROVED pseudo HGNC:39017 INFERRED 5490910 SUMO2P8 SUMO2 pseudogene 8 6 6 108938604 108939614 - 108617401 108618411 - 100506244 ABBA01026143;AL391646;AMYH02014275;NG_029319 APPROVED pseudo HGNC:39018 INFERRED 4771795 SUMO2P6 SUMO2 pseudogene 6 5 5 5 q35.2 170022981 170023268 + 173988778 173989065 + 174561775 174562062 + 100127922 ABBA01044013;AC108112;AMYH02012790;NG_027875 APPROVED pseudo HGNC:39016 INFERRED 1349888 SUMO4 small ubiquitin-like modifier 4 This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. [provided by RefSeq, Jul 2008] 6 6 6 q25 150456593 150457280 + 149721284 149722182 + 149400359 149401046 + 6480464;7240710;8554872 12477932;12901503;14574404;15123604;15247916;15678134;15678135;15678137;15730420;16159953;16198310;16236267;16249223;16306380;16735488;16755651;16821265;17130530;17130532;17130563;17130565;17229939;17373940;17374705;17452059;17459725;17554341;17558709;17660269;17926234;17990297;18330586;18466472;18466531;18657476;18708028;19122825;19222990;19410319;19915388;19956095;20448286;20518843;20728233;20868570;21098080;21139048;21158221;21671169;21890473;21901353;21906435;21906983;21963094;21987572;22425950;22505724;22884980;22936652;23000965;23042402;8072542;8733139 387082 Q6EEV6 AB205057;ABBA01025682;AL031133;AMYH02014690;AY340238;BC130305;CH471051;NG_012301;NG_021386;NM_001002255 AAI30306;AAR04484;ADR82794;BAH05006;CAA20019;EAW47808;NP_001002255;Q6EEV6 Hs.657168 1338883;1340330;7186264 D6S264;D6S441 IDDM5;SMT3H4;SUMO-4;dJ281H8.4 OTTHUMP00000017390;SMT3 suppressor of mif two 3 homolog 2;SMT3 suppressor of mif two 3 homolog 4;insulin-dependent diabetes mellitus 5;small ubiquitin-like modifier 4 protein;small ubiquitin-related modifier 4;smt3 suppressor of mif two 3 homolog 4 (yeast) APPROVED protein-coding HGNC:21181 10584 600320;608829 REVIEWED 1346388 SUMO3 small ubiquitin-like modifier 3 This gene encodes a member of the small ubiquitin-related modifier (SUMO) family of eukaryotic proteins. The encoded protein is covalently conjugated to other proteins via a post-translation modification known as sumoylation. Sumoylation may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Feb 2014] 21 21 21 q22.3 31332860 31345231 - 46225532 46238044 - 44805617 44818129 - 1580863;6480464 10692421;10830953;11451954;11739688;11889051;11997515;12192048;12383504;12477932;12511558;12810706;12924945;14701874;15105549;15175327;15231747;15296745;15383276;15456902;15487983;15489334;15576338;15723523;15940266;16055710;16154602;16169070;16196087;16424386;16428449;16442531;16494873;16524884;16553580;16608850;16620772;16626738;16934752;17000644;17000875;17012228;17081986;17164289;17261810;17353931;17696781;17938407;18082607;18274552;18374647;18381449;18408014;18538659;18565875;18644859;18681895;18694876;18708356;18781797;18842587;18946085;19029252;19050011;19394292;19471022;19597476;19635839;19919826;19946338;20016603;20056645;20101219;20181954;20188669;20549333;20663916;20696768;20719936;20826694;21062750;21098080;21139048;21145359;21147198;21252943;21291420;21362625;21454548;21518904;21527249;21693764;21779164;21878624;21890473;21900206;21900752;21906983;21949651;21963094;21987572;21998312;22053931;22118674;22194612;22203040;22291911;22296450;22306003;22354964;22467880;22492558;22505724;22649547;22863883;22878415;22930759;22942279;22942423;22991139;23000965;23077236;23078246;23092970;23128241;23155000;23159618;23166591;23284737;23407422;23530056;23595631;23604351;23751493;23871147;23970103;23990779;24086424;24190887;24257756;24267727;24654937;24816145;24882209;25027693;8125298;9119407 6612 A8MU27;A8MUA9;P55854 ABBA01074174;ABBA01074175;ABBA01074176;AK222591;AK300822;AK312350;AL773603;AMYH02037918;AMYH02037919;BC000036;BC008420;BT007008;CH471079;CR542173;CR542188;NG_033969;NM_001286416;NM_006936;X99584 AAH00036;AAH08420;AAP35654;BAD96311;BAG35271;BAG62476;CAA67896;CAG46970;CAG46985;EAX09390;EAX09391;EAX09392;EAX09393;NP_001273345;NP_008867;P55854 Hs.474005 1655478;1735026;2157094;2168860;5109699;5124067 D12S2014;D1S1929E;D21S1722E;D21S1937;RH26902;SHGC-87715 SMT3A;SMT3H1;SUMO-2;SUMO-3;Smt3B OTTHUMP00000115275;OTTHUMP00000115276;OTTHUMP00000115277;SMT3 homolog 1;SMT3 suppressor of mif two 3 homolog 1;SMT3 suppressor of mif two 3 homolog 3;small ubiquitin-related modifier 3;smt3 suppressor of mif two 3 homolog 3 (yeast);ubiquitin-like protein SMT3A;ubiquitin-like protein SMT3B APPROVED protein-coding ENSG00000184900 HGNC:11124 03754 602231 REVIEWED 1322098 SUN2 Sad1 and UNC84 domain containing 2 SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010] 22 22 22 q13.1 22937417 22958629 - 39130719 39162338 - 38734714 38756019 - 1580863;6480464;8554872 10375507;10508607;10591208;10818110;11076863;11230166;12239280;12393179;12477932;12958361;14615979;15146197;15461802;15489334;15489336;16380439;16381901;17081983;17132086;17353931;17827388;18029348;18396275;19019082;19167051;19615732;19933576;20108321;20551905;21139048;21655223;21906983;21963094;21988832;22170055;22632968;22751105;22990118;24662567;8619474;9110174;9734811 25777 B0QY60;B0QY63;B0QY64;B0QY65;B0QY66;B0QY67;B0QY68;B0QY69;B4E2A6;H0Y686;Q9UH99 AB014568;ABBA01055533;ABBA01055534;ABBA01055535;AF038178;AF202723;AK295787;AK304188;AL021707;AMYH02038364;AMYH02038365;AMYH02038366;AY682988;BC030684;BC069253;BC094797;BC111549;BC111717;BE675617;BI908715;BX537962;CB988569;CD365855;CH471095;CN299688;CR456474;DC400744;NM_001199579;NM_001199580;NM_015374;XM_005261500;XM_005261501 AAF15887;AAH30684;AAH69253;AAH94797;AAI11550;AAI11718;AAT90500;BAA31643;BAG58608;BAG65068;CAD97926;CAG30360;CAK54455;CAK54754;CAL37638;EAW60265;EAW60266;EAW60267;EAW60268;EAW60269;EAW60270;EAW60271;NP_001186508;NP_001186509;NP_056189;Q9UH99;XP_005261557;XP_005261558 Hs.517622;Hs.744734 1699174;1722439;1748389;2153995;2154867;2167548 D22S1548;G60295;G65739;RH103167;STS-N32043;WI-20331 KIAA0668;MGC133055;MGC133056;UNC84B;rab5IP OTTHUMP00000198989;OTTHUMP00000198990;OTTHUMP00000199094;SUN domain-containing protein 2;Sad1 unc-84 domain protein 2;nuclear envelope protein;rab5-interacting protein;sad1/unc-84 protein-like 2;unc-84 homolog B APPROVED protein-coding ENSG00000100242 HGNC:14210 15611 613569 VALIDATED 1343381 SUN1 Sad1 and UNC84 domain containing 1 This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] 7 7 7 p22.3 824287 883943 + 855194 914557 + 815557 874920 + 1580863;6480464;8554872 10375507;11593002;12036294;12477932;12958361;14702039;15489334;16079285;16344560;16380439;16445915;17081983;17132086;17631499;17724119;18029348;18396275;19240061;19851296;19933576;20108321;20198315;20379614;21139048;21311568;21727197;21890473;21906983;21963094;22190034;22268729;22541428;22632968;23000965;24654937;24662567;8889548;9872452 23353 A4D2Q0;C9JJU6;C9JK55;C9JR15;C9JS54;C9K051;E9PHI4;H0Y6N5;H0Y742;H7C019;H7C2K3;H7C3X3;O94901 AB018353;ABBA01039305;ABBA01039306;AC099731;AF202724;AK022469;AK022816;AK025737;AK074320;AK093851;AK128170;AK302896;AK304150;AK309120;AMYH02015035;AMYH02015036;AY776160;BC013613;BC113916;BC142707;BC151827;BC152418;BM689998;BX538211;BX640866;BX648893;BX649069;CH236965;CH471144;DA112466;DA666453;DA738650;NM_001130965;NM_001171944;NM_001171945;NM_001171946;NM_025154 AAF15888;AAH13613;AAI42708;AAI52419;AAV52793;BAA34530;BAB14046;BAG51119;BAG64069;BAG65040;CAD98070;EAL23707;EAW87174;EAW87175;EAW87176;EAW87177;EAW87178;NP_001124437;NP_001165415;NP_001165416;NP_001165417;NP_079430;O94901 Hs.438072 1663476;1674721;1677778;1690660;1762829;2129378;2152272;5022651;5037552 A004D11;D11S2921;D7S2644;D8S2279;RH48864;RH80180;RH94009;SHGC-146602;STS-N29675 FLJ12407;KIAA0810;MGC176649;UNC84A OTTHUMP00000199968;OTTHUMP00000199969;OTTHUMP00000199971;OTTHUMP00000199972;OTTHUMP00000199973;OTTHUMP00000199974;OTTHUMP00000199975;SUN domain-containing protein 1;Sad1 unc-84 domain protein 1;sad1/unc-84 protein-like 1;unc-84 homolog A APPROVED protein-coding ENSG00000164828 HGNC:18587 16257 607723 REVIEWED 1352324 SUN3 Sad1 and UNC84 domain containing 3 FOUND IN integral component of membrane (inferred); SUN-KASH complex (inferred); INTERACTS WITH 3,4-dichloroaniline; copper atom; copper(0) 7 7 7 p12.3 48126024 48167993 - 48026745 48068724 - 47987148 48029119 - 6480464 12477932;12498619;12690205;18029348;19193627;20379614 256979 F8WDT4;H7BZA7;H7C2N0;Q8TAQ9 ABBA01041080;AC069279;AF429967;AI222206;AK302011;AMYH02015665;AMYH02015666;BC026189;BG772576;BI825617;BU623138;CH236958;CH471128;DQ099386;NM_001030019;NM_001284350;NM_152782 AAH26189;AAP97300;AAZ13762;BAG63413;EAL23808;EAW60999;EAW61000;NP_001025190;NP_001271279;NP_689995;Q8TAQ9 Hs.406741 2177356 AFMa139yg5 MGC33329;SUNC1 OTTHUMP00000208372;OTTHUMP00000208373;OTTHUMP00000208375;OTTHUMP00000208377;SUN domain-containing protein 3;Sad1 and UNC84 domain containing 1;hypothetical protein MGC33329;sad1/unc-84 domain-containing protein 1 APPROVED protein-coding ENSG00000164744 HGNC:22429 15451 VALIDATED 733312 SUOX sulfite oxidase Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 56043727 56051993 + 56391043 56399309 + 55997259 56005525 + 1600114;1600121;1580863;1300048;6480464;7240710;8699517 12112661;15144217 10519592;12368985;12424234;12477932;12763039;12832761;14567685;14729666;15489334;16140720;16229463;16344560;16475804;17366837;17940249;18177044;18198356;18529001;18959753;19850743;20063894;20491442;20877624;21988832;22263579;22885925;22951725;22975842;23665285;24106282;24390342;7599189;9428520;9600976 6821 F8VPA2;F8VRK9;F8VVW9;F8VX56;P51687 ABBA01008397;AC034102;AK312763;AMYH02026557;AU121557;AU126450;AY056018;BC065193;CH471054;HM013717;L31573;NG_008136;NM_000456;NM_001032386;NM_001032387;XM_005269112 AAA74886;AAH65193;AAL08048;ADG45310;BAG35629;EAW96867;EAW96868;EAW96869;EAW96870;EAW96871;NP_000447;NP_001027558;NP_001027559;P51687;XP_005269169 Hs.558403 2141638;2166225;2170501;2183590;5491912 RH44785;RH71366;SHGC-76317;STS-AA026389;Suox OTTHUMP00000158619;OTTHUMP00000242964;OTTHUMP00000242966;OTTHUMP00000242967;OTTHUMP00000242968;OTTHUMP00000243019;OTTHUMP00000243020;OTTHUMP00000243021;sulfite oxidase, mitochondrial APPROVED protein-coding ENSG00000139531 HGNC:11460 06055 272300;606887 REVIEWED 1314928 SUN5 Sad1 and UNC84 domain containing 5 INVOLVED IN spermatogenesis; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); methotrexate (ortholog) 20 20 20 q11.21 28325457 28346116 - 31571579 31592239 - 32983773 33004433 - 1580863;6480464;8554872 10373309;11780052;11988320;12477932;12621555;14702039;15489334;20237496;21711156;21832049;23314748;9691178 140732 A9Z1W8;Q5TDX8;Q5TDX9;Q8TC36 ABBA01019246;AF401350;AK097733;AL121756;AL139826;AMYH02036942;BC026118;BC029528;CH471077;HC007294;HC044585;NM_080675;XM_005260293;XM_006723707;XM_006723708 AAH26118;AAH29528;AAM90665;CBH19452;CBH30622;EAW76342;EAW76343;EAW76344;EAW76345;NP_542406;Q8TC36;XP_005260350;XP_006723770;XP_006723771 Hs.375186 1644686 Z94710 MGC33594;SPAG4L;TSARG4;dJ726C3.1 OTTHUMP00000030618;OTTHUMP00000030621;SUN domain-containing protein 5;sad1 and UNC84 domain-containing protein 5;sperm associated antigen 4-like;sperm-associated antigen 4-like protein;testis and spermatogenesis related gene 4;testis and spermatogenesis-related gene 4 protein APPROVED protein-coding ENSG00000167098 HGNC:16252 15422 613942 VALIDATED 1320698 SUPT16H suppressor of Ty 16 homolog (S. cerevisiae) Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009] 14 14 14 q11.2 1685113 1717921 - 21819631 21852425 - 21351472 21384266 - 6480464;9586726;9068945 16497704;23288364 10421373;10792464;10912001;11239457;12393879;12477932;12676794;12934006;14559993;14660563;14702039;15385968;15489334;15546612;15616580;16522924;16622419;16682447;16713563;16902406;16977311;17081983;17209051;17361185;17403666;17567985;18036521;18206970;18406329;18781797;19214185;19322201;19394292;19454010;19471022;19615732;19666485;19836239;20562859;20599239;20603019;21055985;21113133;21139048;21145461;21182205;21252943;21319273;21532573;21549307;21679440;21693764;21890473;21906983;21907836;21963094;22031019;22174317;22505724;22863883;22939629;23000965;23182705;23329831;23383273;23463506;23602568;23839038;24357716;24457600;24654937;24816145;25027693;9489704;9836642 11198 G3V2X0;G3V401;G3V5A4;Q9Y5B9 ABBA01061245;AF164924;AK001719;AK024072;AK091676;AL135744;AMYH02028838;BC000565;BC012582;BC014046;BC064561;BC073849;BC111402;BP872403;CH471078;NG_009932;NM_007192 AAF28231;AAH00565;AAH14046;AAH64561;AAH73849;AAI11403;EAW66386;EAW66387;NP_009123;Q9Y5B9 Hs.213724 1654799;1654824;1773999;1774001;2115213;2123649;2138900;2140015;2172357;2179329;2218068;2219128 A004V16;A005R45;D14S1321;G20455;G29214;G35908;HELSNF1__6709;RH48778;SUPT16H_3543;WI-14045;WI-20203;WI-20832 CDC68;FACTP140;FLJ10857;FLJ14010;FLJ34357;SPT16/CDC68;hSPT16 FACT 140 kDa subunit;FACT complex subunit SPT16;OTTHUMP00000028337;chromatin-specific transcription elongation factor 140 kDa subunit;facilitates chromatin remodeling 140 kDa subunit;facilitates chromatin transcription complex subunit SPT16 APPROVED protein-coding ENSG00000092201 HGNC:11465 16088 605012 REVIEWED 2289750 SUPT16HP1 suppressor of Ty 16 homolog (S. cerevisiae) pseudogene 1 12 12 12 p12.3 21695991 21699220 - 16552209 16555438 - 16399075 16402509 - 400011 ABBA01067901;AC007528;AMYH02026106;NG_009707 1726047;2140015 G62313;RH48778 SUPT16HP;bcm670 APPROVED pseudo HGNC:31388 INFERRED 1344534 SUPT20HL1 suppressor of Ty 20 homolog (S. cerevisiae)-like 1 ENCODES a protein that exhibits transcription cofactor activity (inferred); INVOLVED IN regulation of RNA biosynthetic process (inferred); FOUND IN SAGA complex (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); dibutyl phthalate (ortholog); phenobarbital (ortholog) X X X p22.11 28503761 28506424 + 24380503 24383557 + 24362761 24365424 + 6480464 15772651;21145461 100130302 Q3ZLR7 ABBA01072319;AC004552;AMYH02039046;AY736017;NM_001136234 AAW59547;NP_001129706;Q3ZLR7 Hs.717243 1337387;1644040 AFM309vb1;DXS8099 FAM48B1 family with sequence similarity 48, member B1;hypothetical protein LOC100130302;transcription factor SPT20 homolog-like 1 APPROVED protein-coding HGNC:30773 INFERRED 1343879 SUPT20H suppressor of Ty 20 homolog (S. cerevisiae) ENCODES a protein that exhibits transcription cofactor activity (inferred); INVOLVED IN autophagy (inferred); chromatin organization (inferred); gastrulation (inferred); FOUND IN SAGA-type complex; INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; emodin 13 13 13 q13.3 18650692 18701096 - 37583449 37633850 - 37009312 37059713 - 737633;6480464 12477932 11340631;12070015;14702039;15057823;15489334;15498874;15978328;16344560;16685401;16713569;16751104;17643375;18838386;19114550;19615732;19893488;20936779;21988832;24163370;24220028;8125298 55578 A8K8L1;B4E2D5;C9JQS2;H7C5F9;Q8NEM7;R4GND2 ABBA01021345;ABBA01021346;AF093250;AF370384;AF445026;AJ130894;AK026091;AK027554;AK056121;AK093723;AK225376;AK292376;AK304227;AL138706;AL391383;AMYH02027874;BC001145;BC030686;CH471075;DA593337;HY034874;NM_001014286;NM_001278480;NM_001278481;NM_001278482;NM_017569;XM_005266447;XM_005266448;XM_005266449;XM_005266450;XM_005266451;XM_005266452;XM_005266453;XM_005266454;XM_005266455;XM_005266456;XM_005266457;XM_005266458;XM_005266460;XM_005266461;XM_005266462;XM_005266464;XM_005266465;XM_005266466;XM_005266467;XM_005266468 AAD40550;AAH01145;AAH30686;AAL38587;AAQ15220;ABM82547;ABM87825;BAF85065;BAG51343;BAG65097;CAB62207;EAX08582;EAX08583;EAX08584;EAX08585;EAX08586;NP_001014308;NP_001265409;NP_001265410;NP_001265411;NP_060039;Q8NEM7;XP_005266504;XP_005266505;XP_005266506;XP_005266507;XP_005266508;XP_005266509;XP_005266510;XP_005266511;XP_005266512;XP_005266513;XP_005266514;XP_005266515;XP_005266517;XP_005266518;XP_005266519;XP_005266521;XP_005266522;XP_005266523;XP_005266524;XP_005266525 Hs.435815 1670984;1734846;1848559;2118281;2119431;2152594;2162471;2162473;2167754;2183967;5017751;5022032 A001V34;D2S1596E;EXOSC8;G15847;G19693;RH11262;RH44456;RH67933;STS-W67447;WI-15841;WI-18055;btcn2837 C13;C13orf19;FAM48A;FP757;P38IP;SPT20;bA421P11.4 OTTHUMP00000018265;OTTHUMP00000214947;OTTHUMP00000214948;OTTHUMP00000214949;OTTHUMP00000214950;family with sequence similarity 48, member A;p38 interacting protein;p38-interacting protein;transcription factor (p38 interacting protein);transcription factor SPT20 homolog;tumor rejection antigen APPROVED protein-coding ENSG00000102710 HGNC:20596 10135 613417 VALIDATED 1347213 SUPT20HL2 suppressor of Ty 20 homolog (S. cerevisiae)-like 2 ENCODES a protein that exhibits transcription cofactor activity (inferred); INVOLVED IN regulation of RNA biosynthetic process (inferred); FOUND IN extracellular space; INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); dibutyl phthalate (ortholog); phenobarbital (ortholog) X X X p22.11 28451951 28454321 - 24328532 24332202 - 24310862 24313315 - 6480464 15772651;21906983 170067 P0C7V6 ABBA01072318;AC096509;AMYH02039045;NM_001136233 NP_001129705;P0C7V6 Hs.716893 1644040;1702508 AFM309vb1;DXS1115E FAM48B1;FAM48B2 family with sequence similarity 48, member B1;family with sequence similarity 48, member B2;putative protein FAM48B2;putative transcription factor SPT20 homolog-like 2 APPROVED protein-coding HGNC:31797 PROVISIONAL 1313449 SUPT3H suppressor of Ty 3 homolog (S. cerevisiae) ENCODES a protein that exhibits histone acetyltransferase activity; transcription coactivator activity; INVOLVED IN histone deubiquitination; histone H3 acetylation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; STAGA complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 6 6 6 p21.1-p21.3 46349249 46898679 - 44794467 45345788 - 44808595 45378051 - 1580863;6480464;8554872 10373431;11238933;11406595;11564863;12477932;12601814;12660246;14702039;15932940;16344560;16494529;17375202;17967894;18029348;18206972;18250150;18391951;18519826;18838386;18839057;19259136;19471022;19615732;19893584;20379614;20628086;20881960;20937768;20946988;22407027;22504420;22763110;22941190;23044487;23251661;23563607;24250222;24262325;9674425;9726987;9787080;9885574 8464 B4E1H0;O75486;Q5VWT9 ABBA01050631;ABBA01050632;ABBA01050633;ABBA01050634;ABBA01050635;ABBA01050636;AF069734;AF073930;AF279781;AK092340;AK303838;AK313874;AL096865;AL138880;AL161905;AL360272;AL391118;AL499610;AMYH02013665;AMYH02013666;AMYH02013667;AMYH02013668;AMYH02013669;AMYH02013670;AMYH02013671;AMYH02013672;AMYH02013673;AMYH02013674;AMYH02013675;AMYH02013676;AMYH02013677;AMYH02013678;BC035816;BC050384;CH471081;DA012115;NM_001261823;NM_003599;NM_181356;XM_005249450;XM_005249451;XM_006715230;XR_427837 AAC36098;AAC39904;AAH35816;AAH50384;ABZ92456;BAG36602;BAG64782;EAX04274;EAX04275;EAX04276;NP_001248752;NP_003590;NP_852001;O75486;XP_005249507;XP_005249508;XP_006715293 Hs.368325 1650016;1660768;1669860;1670404;1675201;1695738;1705560;1752821;1752969;1767495;1786038;1797226;2109911;2118219;2131853;2138197;2139545;2152951 D6S1336;D6S1928;D6S2025;G02272;G19202;GDB:313573;RH16435;RH77889;RH79022;Runx2;SHGC-106694;SHGC-106818;SHGC-155467;SHGC-37680;SHGC-56456;SHGC-82662;SHGC-83885;SUPT3H_8812 FLJ35021;SPT3;SPT3L OTTHUMP00000016530;OTTHUMP00000043628;OTTHUMP00000043629;SPT3-like protein;transcription initiation protein SPT3 homolog protein-coding ENSG00000196284 HGNC:11466 04254 602947 VALIDATED 2301497 SUPT4H1P SUPT4H1 pseudogene 2 2 2 p12 75708715 75710054 - 75877435 75878774 - 75650309 75651648 - 100190947 ABBA01075624;AC005034;AMYH02004097;NG_008701 1677398 RH98919 pseudo HGNC:33981 INFERRED 1348806 SUPT4H2 suppressor of Ty 4 homolog 2 (S. cerevisiae) 6828 HGNC:11468 1314951 SUPT4H1 suppressor of Ty 4 homolog 1 (S. cerevisiae) This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012] 17 17 17 q22 52884325 52891352 - 56422536 56429599 - 58345175 58352238 - 6480464;8554872 10075709;10199401;10454543;10757782;10912001;11112772;11553615;12391174;12477932;12612062;12653964;12676794;12718890;14702039;15060154;15136722;15342556;15380072;15489334;16169070;16214896;17502349;17962196;18373978;19210550;19860741;19952111;20211142;21139048;21832049;21890473;21900206;21906983;22422068;22505724;22570620;22939629;23000965;24816145;7566098;8649394;8786137;9450929;9857195 6827 D3DTZ5;J3KSQ6;J3QR04;J3QSB9;P63272 AA311965;ABBA01041334;AC004687;AI342302;AI735030;AK129758;AK311986;AMYH02033687;BC002802;BG026473;BP196741;BP318625;BX331655;CH471109;CR407663;FN160415;NM_003168;NR_073470;U38817;U38818;U43923 AAB07814;AAB18674;AAB18675;AAH02802;ABZ92239;BAC85230;BAG34925;CAG28591;EAW94464;EAW94465;EAW94466;EAW94467;NP_003159;P63272 Hs.439481;Hs.718477 1661589;1665695;1672042;1677398;1682421;1767703;1777933;2176709;2187152;2189397;2191643;5119124;5123272 D12S1371;D17S1419E;MARC_3557-3558:966881413:1;MARC_4325-4326:991938466:1;RH35987;RH45569;RH68148;RH70634;RH93017;RH98919;STS-H72889;WI-11652;WI-21001 DSIF p14;SPT4;SPT4H;SUPT4H;hSPT4 DRB sensitivity-inducing factor 14 kDa subunit;DRB sensitivity-inducing factor small subunit;DSIF small subunit;small hSpt4 subunit;transcription elongation factor SPT4 protein-coding ENSG00000213246 HGNC:11467 16026 603555 REVIEWED 1346289 SUPT5H suppressor of Ty 5 homolog (S. cerevisiae) ENCODES a protein that exhibits enzyme binding; poly(A) RNA binding; protein heterodimerization activity; INVOLVED IN DNA-templated transcription, elongation; negative regulation of DNA-templated transcription, elongation; negative regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN DSIF complex; nucleus; INTERACTS WITH 2-methylcholine; atrazine; elemental selenium 19 19 19 q13 36737890 36769015 + 39936186 39967310 + 39445546 39476670 + 1580863;6480464;8554872 10075709;10199401;10393184;10421630;10454543;10757782;10912001;10958691;11112772;11145967;11553615;11575923;11809800;11940650;12391174;12477932;12612062;12653964;12676794;12718890;14580347;14701750;14702039;15060154;15136722;15201869;15231748;15342556;15380072;15489334;15564463;15620346;16169070;16214896;16327805;16344560;16427012;17081983;17502349;17962196;18029348;18562274;19210550;19471022;19738201;19742326;19860741;19952111;20211142;20471948;20972266;21044950;21139048;21145461;21880767;21890473;21906983;21963094;21988832;22113938;22355797;22412018;22422068;22586326;22863883;22939629;22990118;23000965;23041311;23064645;23518577;23667531;24101474;24457600;24816145;8619474;8975720;9110174;9199507;9450929;9512541;9514752;9790902;9857195 6829 M0QYL9;M0R105;M0R2M5;O00267 AB000516;AB209257;ABBA01040730;AC011500;AF040253;AF052165;AK091476;AK295137;AK296117;AK302954;AK303480;AMYH02036094;AMYH02036095;BC024203;BP199253;CH471126;DB064517;DB097498;NM_001111020;NM_001130824;NM_001130825;NM_003169;U56402;XM_005259183;XM_006723337;Y12790 AAC51102;AAD02179;AAH24203;ABM87794;BAA24075;BAD92494;BAG58160;BAG58866;BAG64109;BAG64516;CAA73326;EAW56896;EAW56897;EAW56898;EAW56899;EAW56900;NP_001104490;NP_001124296;NP_001124297;NP_003160;O00267;XP_005259240;XP_006723400 Hs.631604 1646440;1676246;1729622;1745963;2108543 D19S190;RH124224;RH47758;RH80839;SUPT5H_8660 DSIF p160;FLJ34157;SPT5;SPT5H;Tat-CT1;hSPT5 DRB sensitivity-inducing factor 160 kDa subunit;DRB sensitivity-inducing factor large subunit;DSIF large subunit;Tat-cotransactivator 1 protein;transcription elongation factor SPT5 protein-coding ENSG00000196235 HGNC:11469 03655 602102 VALIDATED 1602227 SUPT7L suppressor of Ty 7 (S. cerevisiae)-like SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009] 2 2 2 p23.3 27719150 27731920 - 27873679 27886707 - 27650809 27663973 - 6480464;8554872 10987294;11564863;12477932;15489334;15561718;15728473;15815621;15870280;16169070;16344560;17141982;17375202;17643375;17967894;18250150;19471022;19615732;21693764;23044487;23382074;24654937;24852358;9872452 9913 O94864 AB018307;ABBA01045214;AC074091;AF197954;AF224759;AK000329;AK000616;AK304889;AMYH02003480;BC045638;BC074000;BI755200;CF528942;CH471053;CR456983;DA001757;DA398215;NM_001282729;NM_001282730;NM_001282731;NM_001282732;NM_014860;XM_005264672 AAG28523;AAG47636;AAH74000;AAX93202;BAA34484;BAG65625;CAG33264;EAX00556;NP_001269658;NP_001269659;NP_001269660;NP_001269661;NP_055675;O94864;XP_005264729 Hs.6232 1655143;1665170;1683076;1685315;1847473;1854386;2108943;2163903;2171502;2180817;2180819 A003N16;A004H41;A006H24;G20810;RH12249;RH26796;RH98653;SGC32173;SGC33027;STAF65_5331.2;WI-15326 KIAA0764;MGC90306;SPT7L;STAF65;STAF65(gamma);STAF65G;SUPT7H OTTHUMP00000200851;OTTHUMP00000200852;OTTHUMP00000200853;OTTHUMP00000200854;SPTF-associated factor 65 gamma;STAF65gamma;STAGA complex 65 gamma subunit;STAGA complex 65 subunit gamma;adenocarcinoma antigen ART1;suppressor of Ty 7-like APPROVED protein-coding ENSG00000119760 HGNC:30632 18115 612762 VALIDATED 1319556 SUPT6H suppressor of Ty 6 homolog (S. cerevisiae) ENCODES a protein that exhibits histone binding; poly(A) RNA binding; INVOLVED IN negative regulation of histone H3-K27 methylation; positive regulation of transcription elongation from RNA polymerase II promoter; regulation of isotype switching (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH cobalt dichloride; methyl methanesulfonate; theophylline 17 17 17 q11.2 23848329 23888285 + 26989221 27029255 + 28662203 28702237 + 6480464;8554872 10933715;12477932;15060154;15489334;16273093;17081983;17234882;17643375;18562274;19141475;19471022;19615732;20972266;21139048;21518874;21890473;21906983;22053931;22113938;22171252;22316138;22505724;22586326;22843687;22990118;23443559;24457600;24816145;8619474;8724849;8786132;9110174;9480761;9514752 6830 J3QS64;K7EK85;Q7KZ85 ABBA01015049;ABBA01015050;AC010761;AF070532;AK126585;AL833607;AMYH02033225;AMYH02033226;BC003692;BC003696;BC017105;BC033074;BC073963;BC136522;BC136524;BC150268;CH471159;D79984;HI574126;NM_003170;U38623;U38658;XM_005258026;XM_005258027;XM_006722042 AAB18949;AAC28631;AAC99996;AAH03692;AAH03696;AAH17105;AAH33074;AAH73963;AAI36523;AAI36525;AAI50269;BAA11479;CBX47552;EAW51116;EAW51117;EAW51118;EAW51119;NP_003161;Q7KZ85;XP_005258083;XP_005258084;XP_006722105 Hs.250429 1679131;1685710;1689131;1689921;5014563;5015619;5016478;5022927;5037552;5491240 D11S3114;D8S2279;GDB:434012;L17676;MARC_3295-3296:991936968:1;RH25380;RH67050;RH71444;RH79803;ksks304 KIAA0162;MGC87943;SPT6;SPT6H;emb-5;hSPT6 histone chaperone suppressor of Ty6;tat-CT2 protein;tat-cotransactivator 2 protein;transcription elongation factor SPT6 protein-coding ENSG00000109111 HGNC:11470 03211 601333 VALIDATED 732036 SURF1 surfeit 1 This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008] 9 9 9 q34.2 106769152 106773840 - 136218660 136223361 - 133351805 133356670 - 1599193;1580863;6480464;7240710;8699517;8554872 9843204 10556302;10556303;10647889;10746561;11317352;11579424;11955926;12477932;12515039;12538779;12812953;14557577;14607829;15214016;15489334;15764605;16083427;16806233;17908801;18583168;19295170;19625251;19780766;19913121;20201926;20301352;20301382;20301403;20436434;20601676;20624914;20628086;20843780;20877624;21988832;22410471;22465034;22488715;22729384;22939629;24027061;24816145;7702754;8499913;9740673 6834 E5KRX5;Q15526 ABBA01032461;AC002107;AI479876;AK291122;AL158826;AL593848;AMYH02021827;BC028314;BC071658;BE645550;BE905282;BM542342;CH471090;HQ205786;HQ205787;HQ205788;HQ205789;HQ205790;HQ205791;HQ205792;HQ205793;HQ205794;HQ205795;HQ205796;HQ205797;HQ205798;HQ205799;HQ205800;HQ205801;HQ205802;HQ205803;HQ205804;HQ205805;HQ205806;HQ205807;HQ205808;HQ205809;HQ205810;HQ205811;HQ205812;HQ205813;HQ205814;HQ205815;HQ205816;HQ205817;HQ205818;HQ205819;HQ205820;HQ205821;HQ205822;HQ205823;HQ205824;HQ205825;NG_008477;NM_001280787;NM_003172;XM_006717255;XM_006717256;Y17212;Z35093 AAH28314;AAH71658;ABM81749;ABM84903;ADP91654;ADP91655;ADP91656;ADP91657;ADP91658;ADP91659;ADP91660;ADP91661;ADP91662;ADP91663;ADP91664;ADP91665;ADP91666;ADP91667;ADP91668;ADP91669;ADP91670;ADP91671;ADP91672;ADP91673;ADP91674;ADP91675;ADP91676;ADP91677;ADP91678;ADP91679;ADP91680;ADP91681;ADP91682;ADP91683;ADP91684;ADP91685;ADP91686;ADP91687;ADP91688;ADP91689;ADP91690;ADP91691;ADP91692;ADP91693;BAF83811;CAA76689;CAA84476;CAI12836;CAI12837;EAW88067;NP_001267716;NP_003163;Q15526;XP_006717318;XP_006717319 Hs.512464 5096644 RH11616 OTTHUMP00000022473;OTTHUMP00000022474;surfeit locus protein 1 APPROVED protein-coding ENSG00000148290 HGNC:11474 01711 185620;256000 REVIEWED 1345081 SURF2 surfeit 2 This gene shares a bidirectional promoter with surfeit 1 (SURF1; GeneID: 6834), which is located on the opposite strand. It encodes a conserved protein that is expressed in a variety of tissues. [provided by RefSeq, Jul 2013] 9 9 9 q34.2 106773900 106778519 + 136223421 136228041 + 133356545 133361165 + 6480464 12477932;15342556;15489334;16169070;16341674;17081983;18482256;19615732;19913121;20628086;21832049;21900206;22703881;22863883;24816145;7702754;8499913;9740673 6835 Q15527 ABBA01032461;AC004530;AI808831;AL158826;AL593848;AMYH02021827;BC014411;BI118187;BM789997;BP244646;BQ672017;CH471090;CR456753;NG_008477;NM_001278928;NM_017503;Y17214;Z35094 AAH14411;ABM83521;ABM86745;CAA84477;CAG33034;CAI12838;EAW88068;EAW88069;EAW88070;NP_001265857;NP_059973;Q15527 Hs.159448 1671730;1770222;2169888;5015543;5126489 A002D41;D9S1963;RH36030;RH77852;RH78413 SURF-2 OTTHUMP00000022475;surfeit locus protein 2 APPROVED protein-coding ENSG00000148291 HGNC:11475 15948 185630 REVIEWED 1313667 SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae) ENCODES a protein that exhibits 3'-5' RNA helicase activity; ATP-dependent RNA helicase activity; DNA binding; INVOLVED IN ATP catabolic process; chromatin maintenance; DNA duplex unwinding; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN mitochondrial degradosome; mitochondrial matrix; mitochondrial nucleoid; INTERACTS WITH 5-fluorouracil; atrazine; bisphenol A 10 10 10 q22.1 64215826 64244691 + 70939993 70968854 + 69180237 69209098 + 1580863;6480464;8554872 11154739;12466530;12477932;15096047;15919122;16176273;16385451;17352692;17373700;17961633;18063578;18678873;19322201;19509288;19864255;20186120;20877624;21139048;21145461;22610502;23221631;23903356;24816145;25027693;7566098;9925937 6832 B1AR60;Q8IYB8 ABBA01019602;AF042169;AK290416;AK299670;AL596223;AMYH02023269;BC036112;BM675613;CH471083;DC398467;NM_001301683;NM_003171;XM_005270068 AAB97370;AAH36112;ABM81930;ABM85109;BAF83105;BAH13097;EAW54314;EAW54315;NP_001288612;NP_003162;Q8IYB8;XP_005270125 Hs.106469 1339945;1644197;2108545 D10S1647;SUPV3L1_8661;WI-13637 SUV3 ATP-dependent RNA helicase SUPV3L1, mitochondrial;OTTHUMP00000019719;SUV3-like protein 1;suppressor of var1 3-like protein 1;suppressor of var1, 3-like 1(SUV3) protein-coding ENSG00000156502 HGNC:11471 05493 605122 VALIDATED 1316549 SURF6 surfeit 6 This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 9 q34.2 106748057 106753551 - 136197543 136203047 - 133330707 133336210 - 1580863;6480464 10675619;11790298;11891058;12477932;14702039;15489334;15629442;15635413;21890473;22113938;22316485;22586326;23267103;24094242;24778252;24816145;8499913;8639267;8889548;9548374;9740673 6838 O75683 ABBA01032461;AC002107;AF186772;AI085033;AJ224639;AK054884;AL158826;AL772161;AMYH02021826;BC003001;BC006197;BC014878;BI820270;BM451240;BM676548;CB158198;CD104374;CH471090;CN260811;NM_001278942;NM_006753;NR_103874 AAD56587;AAH03001;AAH06197;AAH14878;ACE86626;ACE87307;BAG51440;CAA12054;CAI12825;EAW88055;NP_001265871;NP_006744;O75683 Hs.274430 1664371;2150888 RH48554;WI-11910 FLJ30322;RRP14 OTTHUMP00000022488;surfeit locus protein 6 APPROVED protein-coding ENSG00000148296 HGNC:11478 01714 185642 REVIEWED 2902595 SURF6P1 surfeit 6 pseudogene 1 Y Y Y q11.221 4649099 4658376 + 19296350 19306649 + 17184470 17194769 + 9847074 643470 ABBA01028519;ABBA01028520;ABBA01028521;AC006999;NG_016547 2188577;5023001 G66334;sY2844 pseudo HGNC:37722 INFERRED 1322534 SURF4 surfeit 4 This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein that interacts with endoplasmic reticulum-Golgi intermediate compartment proteins. Disruption of this gene results in reduced numbers of endoplasmic reticulum-Golgi intermediate compartment clusters and redistribution of coat protein I to the cytosol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 9 q34.2 106778819 106793454 - 136228325 136244820 - 133361449 133377949 - 1580863;6480464 10931946;11076863;11230166;12477932;15308636;15489334;15489336;16344560;16381901;17353931;18287528;19913121;20379614;20628086;21103663;21139048;21890473;21903422;21906983;21963094;21987572;22190034;22678362;22703881;22939629;23000965;23246001;24639526;24816145;7540914;8499913;9740673 6836 B7Z1G8;B7Z7A8;O15260;Q5T8U5;Q5T8U7 ABBA01032461;AC004530;AF078866;AF078867;AK026646;AK293434;AK295435;AK299656;AK300004;AK301737;AK303309;AK310333;AK315488;AK316480;AL158826;AL593848;AMYH02021827;AMYH02021828;BC018741;BC111023;BM148022;BM557312;BQ001856;BX647961;CH471090;DA842525;DC424374;NM_001280788;NM_001280789;NM_001280790;NM_001280791;NM_001280792;NM_001280793;NM_033161;XM_006717257;Y14820;Y17214 AAD44498;AAD44499;AAH18741;AAI11024;ABM82950;ABM86142;BAG37872;BAH11504;BAH12067;BAH13091;BAH13190;BAH13544;BAH13939;BAH14851;CAA75099;CAA76692;CAI12839;CAI12840;CAI12841;CAL37785;EAW88071;EAW88072;EAW88073;EAW88074;NP_001267717;NP_001267718;NP_001267719;NP_001267720;NP_001267721;NP_001267722;NP_149351;O15260;XP_006717320 Hs.512465 1663928;1671730;1770222;1855768;2116999;2155536;2169888 A002D41;D9S1016E;D9S1963;RH36030;RH78112;WI-12321;WI-13663 ERV29;FLJ22993;MGC102753 OTTHUMP00000022476;OTTHUMP00000022477;OTTHUMP00000022478;surface 4 integral membrane protein;surfeit locus protein 4 APPROVED protein-coding ENSG00000148248 HGNC:11476 01715 185660 REVIEWED 1315881 SUSD1 sushi domain containing 1 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 9 9 9 q31.3-q33.1 85302059 85436554 - 114803061 114937577 - 112040781 112175297 - 737633;6480464;8554872 12477932 12975309;14702039;15164053;15231748;15489334;16263699;16344560;17362836;20583170;21890473;21906983;22268729;23251661;23650146 64420 F8WAQ1;H0Y6B2;H0YCH6;H3BLV4;Q6UWL2 ABBA01042714;ABBA01042715;ABBA01042716;ABBA01042717;AK025486;AK056704;AK292868;AL137432;AL138756;AL158824;AMYH02021482;AMYH02021483;AMYH02021484;AY358746;BC021125;BC052314;BC060770;BM998810;BX362255;CH471105;DB221801;NM_001282640;NM_001282643;NM_022486 AAH21125;AAH52314;AAH60770;AAQ89106;BAB15149;BAB71259;BAF85557;CAB70735;EAW59093;EAW59094;EAW59095;EAW59096;EAW59097;EAW59098;NP_001269569;NP_001269572;NP_071931;Q6UWL2 Hs.494827 1671671;1720239;1771092;1856895;2155339 D9S1957;HUM0C12C11;RH123868;RH18316;RH47130 RP11-4O1.1 OTTHUMP00000021926;OTTHUMP00000021927;OTTHUMP00000229550;sushi domain-containing protein 1 protein-coding ENSG00000106868 HGNC:25413 15452 VALIDATED 2290509 SUSD2P1 sushi domain containing 2 pseudogene 1 22 22 22 q11.21 2097 3985 - 21724350 21726238 + 21370061 21371949 + 729568 AP000552;NG_008830 pseudo HGNC:33889 INFERRED 2301771 SUSD2P2 sushi domain containing 2 pseudogene 2 22 22 22 q11.21 2097 3985 - 20473206 20475094 - 18623339 18625227 - 729450 ABBA01009187;AC023490;AMYH02038060;NG_008328 pseudo HGNC:35197 INFERRED 1322117 SUSD3 sushi domain containing 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 9 9 9 q22.31 66262735 66289161 + 95820989 95847420 + 93058688 93085138 + 737633;6480464;8554872 12477932 12975309;15164053;15489334;17213182;21832049 203328 Q96L08;S4R3T3;S4R444 AA490088;ABBA01018601;ABBA01018602;AI452970;AK128289;AL451065;AMYH02021231;AMYH02021232;AMYH02021233;AY358190;BC014601;BC041834;BM458621;CB047753;CH471089;DR007158;DT220823;NM_001287005;NM_001287006;NM_001287007;NM_001287008;NM_145006;XM_006717000 AAH14601;AAH41834;AAQ88557;ABM84950;ABW03639;EAW62848;EAW62849;NP_001273934;NP_001273935;NP_001273936;NP_001273937;NP_659443;Q96L08;XP_006717063 Hs.88417 1699756;2129262 RH103484;RH45386 MGC26847 OTTHUMP00000021669;sushi domain-containing protein 3 protein-coding ENSG00000157303 HGNC:28391 15453 VALIDATED 1318458 SUSD2 sushi domain containing 2 ENCODES a protein that exhibits polysaccharide binding (inferred); scavenger receptor activity (inferred); INVOLVED IN immune response (inferred); receptor-mediated endocytosis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; plasma membrane; INTERACTS WITH arsenite(3-); 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 22 22 22 q11-q12 8377843 8385473 + 24577444 24585074 + 24181476 24189106 + 737633;6480464;8554872 12477932 10591208;14702039;15489334;16335952;17353931;18029348;19056867;20467438;23131994;23624525 56241 Q9UGT4 ABBA01055130;AC253536;AK026431;AK126105;AMYH02038141;AP000353;BC033107;BI822588;CH471095;NM_019601;Z92546 AAH33107;BAB15481;CAB62953;EAW59641;EAW59642;NP_062547;Q9UGT4 Hs.131819 BK65A6.2;FLJ22778 OTTHUMP00000198498;Sushi domain (SCR repeat) containing;sushi domain-containing protein 2 protein-coding ENSG00000099994 HGNC:30667 18132 615825 VALIDATED 1605987 SUSD4 sushi domain containing 4 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 1 1 1 q41 196613537 196756905 - 223394161 223537564 - 223220819 223364202 - 6480464;8554872 12477932;12975309;14702039;16344560;20237496;20348246;23482636 55061 B3KTY0;B7Z369;B7Z469;Q5VX71;V9GYN8;V9GZ49 ABBA01006369;ABBA01006370;ABBA01006371;AK000914;AK096265;AK295553;AK296923;AL359733;AL359979;AMYH02002754;AMYH02002755;AMYH02002756;AY358495;BC004888;BF446433;CH471100;DA125047;EF560748;NM_001037175;NM_017982;XM_005273169;XM_005273171;XM_005273172;XM_005273173;XM_006711408 AAH04888;AAQ88859;ABQ59058;BAA91421;BAG53242;BAH12105;BAH12455;EAW93257;EAW93258;EAW93259;EAW93260;EAW93261;NP_001032252;NP_060452;Q5VX71;XP_005273226;XP_005273228;XP_005273229;XP_005273230;XP_006711471 Hs.497841 1663739;1664109;1692766;1712551;1719625;1777480;2113672;2185131 AB066509;AL009823;AL034149;D1S3406;N28096;RH123717;SHGC-76390;SHGC-76394 FLJ10052;PRO222;RP11-239E10.4 OTTHUMP00000036037;OTTHUMP00000036038;YHGM196;sushi domain-containing protein 4 protein-coding ENSG00000143502 HGNC:25470 07641 615827 VALIDATED 1607061 SUSD5 sushi domain containing 5 ENCODES a protein that exhibits hyaluronic acid binding (inferred); INVOLVED IN cell adhesion (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; isotretinoin 3 3 3 p22.3 33134857 33204091 - 33191537 33260707 - 33150045 33219215 - 6480464 16641997;9628581 26032 H7C2K7;O60279 AB011099;ABBA01024908;ABBA01024909;AC123900;AK295869;AMYH02006516;AMYH02006517;NM_015551;XM_005265034;XM_005265035 BAA25453;BAG58668;NP_056366;O60279;XP_005265091;XP_005265092 Hs.196647 1770798;2156917 D3S1745;D3S4525 KIAA0527 OTTHUMP00000208758;OTTHUMP00000208759;sushi domain-containing protein 5 protein-coding ENSG00000173705 HGNC:29061 VALIDATED 1348120 SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila) This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X p11.23 53096600 53108876 - 48553945 48567407 + 48695554 48709016 + 1580863;6480464;6907045;7242554;7242632;9586740;9586726 16497704;22194015;23200123;24752040 10202156;10671371;10779362;10848615;10873456;10949293;11018264;11242053;11252719;11484059;11533237;11788710;11867540;12101246;12138181;12242305;12399542;12477932;12565857;12588981;12711603;12711675;12723694;12789259;12867029;12917624;14690610;14765126;14985713;15107829;15120635;15220403;15489334;15677454;15767660;15772651;16103223;16409643;16449642;16519522;16652147;16688220;16818776;16858404;17081983;17085482;17172641;17245431;17245432;17657744;17707234;18004385;18096052;18485871;18498648;18501190;18619962;18648073;18655152;19218236;19581932;19776757;19881540;20069564;20129054;20331966;20562864;20588255;20603076;21124070;21192791;21359677;21402781;21493592;21504832;21726809;21862595;21890473;21896933;21906983;21963094;21979880;21987572;22020221;22036763;22077140;22078878;22079596;22330138;22505724;22537242;22562246;22623531;22763435;22831836;22991213;23000965;23285239;23376847;23455924;23509280;24501407;24588869;8125298 6839 B4DP90;O43463 A58331;ABBA01046046;ABBA01046047;ABBA01046048;AC231533;AF019968;AF075109;AF196970;AK223071;AK297566;AK298233;AK299900;AK312547;AMYH02039306;AW327567;BC006238;BG024540;CH471224;CR541746;L08238;NG_012530;NM_001282166;NM_003173 AAA59592;AAB92224;AAH06238;ABM83534;ABM86774;BAD96791;BAG35445;BAG59958;BAG60502;BAG61742;CAA03483;CAG46546;EAW50756;EAW50757;NP_001269095;NP_003164;O43463 Hs.522639 1702430;1793650;2107647;2112848;2151663;2179699 DXS7466E;DXS8281;DXS9868E;PMC24455P1;SUV39H1_7883;WI-18178 H3-K9-HMTase 1;KMT1A;MG44;SUV39H OTTHUMP00000024298;Su(var)3-9 homolog 1;histone H3-K9 methyltransferase 1;histone-lysine N-methyltransferase SUV39H1;histone-lysine N-methyltransferase, H3 lysine-9 specific 1;lysine N-methyltransferase 1A;position-effect variegation 3-9 homolog APPROVED protein-coding ENSG00000101945 HGNC:11479 02221 300254 REVIEWED 1315884 SUV39H2 suppressor of variegation 3-9 homolog 2 (Drosophila) ENCODES a protein that exhibits histone methyltransferase activity (H3-K9 specific); transcription regulatory region sequence-specific DNA binding (ortholog); INVOLVED IN chromatin assembly or disassembly; chromatin remodeling; histone H3-K9 dimethylation (ortholog); PARTICIPATES IN homocysteine metabolic pathway; methionine cycle/metabolic pathway; histone modification pathway; FOUND IN chromatin; INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene diol epoxide I 10 10 10 p13 14848822 14874354 + 14920782 14946314 + 14878783 14904315 + 1359810;1580863;6480464;6907045;7242554;7242632 11094092;22194015;23200123 10949293;12477932;14702039;14765126;15107829;15164054;15489334;16169070;16189514;16344560;16774942;17474147;18231586;20084102;20562864;21060834;21402781;21896933;21900206;23455924;23793025;23891737;24250222;8125298 79723 C9IYH9;C9JMB4;G5E9A8;H0Y306;Q5JSS2;Q9H5I1 ABBA01034604;ABBA01034605;AC069544;AK027067;AK222565;AK225369;AL360083;AL834488;AMYH02022203;BC007754;BC029360;BU928392;CH471072;CR457372;DB040298;NM_001193424;NM_001193425;NM_001193426;NM_001193427;NM_024670;NR_034181;XM_006717503 AAH07754;AAH29360;ABM87014;ABW03850;BAB15645;CAD39146;CAG33653;EAW86253;EAW86254;EAW86255;EAW86256;EAW86257;NP_001180353;NP_001180354;NP_001180355;NP_001180356;NP_078946;Q9H5I1;XP_006717566 Hs.554883 1653668;1657090;1670557;1689442;2127093;5022200;5022578;5022588;5022651;5022925;7185308 D11S2921;D1S1423;D5S1597E;L18426;RH48597;RH92823;SHGC-64297;STS-T90528;WI-15434;ksks283 FLJ23414;KMT1B H3-K9-HMTase 2;OTTHUMP00000019180;OTTHUMP00000019181;OTTHUMP00000019182;OTTHUMP00000019185;OTTHUMP00000019186;OTTHUMP00000019187;histone H3-K9 methyltransferase 2;histone-lysine N-methyltransferase SUV39H2;lysine N-methyltransferase 1B;su(var)3-9 homolog 2 protein-coding ENSG00000152455 HGNC:17287 07580 606503 VALIDATED 1348608 SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila) This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 q13.2 65257585 65291695 - 67922330 67981250 - 68154863 68213783 - 6480464;6907045;7242632 23200123 10810093;11401438;12477932;14702039;15145825;15489334;16322686;17353931;17707234;18187620;18296440;19074285;21206904;21988832;23382691;23720823;24396869;8125298;8889548 51111 B5MCB3;B7WNX0;C9J6S5;C9JFG1;C9JP58;F8WFA4;H7BXP2;Q4FZB7 ABBA01024012;ABBA01024013;ABBA01024014;ABBA01024015;AF151843;AF264782;AI659791;AK000046;AK025183;AK025461;AK026428;AK225203;AK299201;AK314336;AL512763;AMYH02025008;AMYH02025009;AP002992;BC002522;BC012933;BC065287;BC087834;BC098121;BC099714;BC103498;BC104483;BC108304;BG697990;BM152996;BM719058;CH471076;CR997801;KC877427;KC877429;NM_001300907;NM_001300908;NM_001300909;NM_016028;NM_017635;XM_005274035;XM_005274036;XM_005274037;XM_005274038;XM_006718581 AAD34080;AAG36937;AAH02522;AAH12933;AAH65287;AAH87834;AAH98121;AAH99714;AAI03499;AAI04484;BAA90905;BAH12968;CAC21680;EAW74697;EAW74698;EAW74699;EAW74700;EAW74701;NP_001287836;NP_001287837;NP_001287838;NP_057112;NP_060105;Q4FZB7;XP_005274092;XP_005274093;XP_005274094;XP_005274095;XP_006718644 Hs.632120 1648053;1648055;1661216;1688042;1711354;1738211;1782420;2116960;2136009;2137007;2153377;5093000 A005U01;A009D47;D11S2264E;D11S3845;G20496;G32461;RH17770;RH94294;SHGC-154888;SHGC-31912;SHGC-89329;WI-14303 CGI-85;CGI85;KMT5B;MGC118906;MGC118909;MGC21161;MGC703 C630029K18Rik;OTTHUMP00000197480;OTTHUMP00000197482;OTTHUMP00000197484;OTTHUMP00000197487;OTTHUMP00000197488;OTTHUMP00000197489;histone-lysine N-methyltransferase SUV420H1;lysine N-methyltransferase 5B;su(var)4-20 homolog 1;suv4-20h1 APPROVED protein-coding ENSG00000110066 HGNC:24283 11616 610881 REVIEWED 1346503 SUV420H2 suppressor of variegation 4-20 homolog 2 (Drosophila) SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009] 19 19 19 q13.42 52892173 52900453 + 55851221 55859489 + 55339853 55348121 + 737633;6480464;6907045;7242632;9586742;9586726 12477932;16497704;21357467;23200123 15145825;15489334;15498874;15750587;16322686;17672918;18296440;19448619;19486527;20467438;21206904;21321083;21890473;24396869 84787 Q86Y97 ABBA01068105;AC020922;AF289582;AK304562;AK308586;AMYH02036461;AW248704;BC005842;BC019313;BC044889;CH471135;NM_032701;XM_005259338;XM_006723442;XM_006723443 AAH05842;AAH19313;AAH44889;AAL55766;BAH14216;EAW72364;EAW72365;EAW72366;NP_116090;Q86Y97;XP_005259395;XP_006723505;XP_006723506 Hs.590982 1336031;2106925;5014051;5021872 20922op;D19S877;D8S2278;sY3084 FLJ51466;FLJ98627;KMT5C;MGC2705 OTTHUMP00000197477;histone-lysine N-methyltransferase SUV420H2;lysine N-methyltransferase 5C;su(var)4-20 homolog 2;suv4-20h2 APPROVED protein-coding ENSG00000133247 HGNC:28405 15454 613198 VALIDATED 1344509 SUZ12 SUZ12 polycomb repressive complex 2 subunit This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009] 17 17 17 q11.2 27183671 27247908 + 30264044 30328057 + 31937025 32001045 + 1580863;6480464;9491842;8554872 20515739 11371647;11546753;11564866;12351676;12435631;12477932;12843325;14536086;15043312;15225548;15257518;15302935;15385962;15489334;15684044;15882624;16224021;16431907;16630818;16712789;17081983;17197920;17406994;17542650;17560333;17632510;17667554;17970752;18077430;18285464;18385154;18453536;18483221;18519590;18628979;18662993;18753137;18772439;18784248;18931660;19026780;19026781;19322201;19454010;19471022;19542872;19578722;19749796;19847889;20123894;20211142;20558579;20562864;20616235;20671031;20800574;20832727;20857416;21029866;21123648;21135039;21139048;21190999;21378168;21480320;21513699;21536749;21693764;21884980;21890473;21906983;22009739;22094255;22169276;22215809;22237151;22308284;22315224;22330138;22439931;22668559;22939629;22964433;22990118;23588203;23624935;23714854;23735840;24320048;24385046;24457600;24469040;24633887;8590280 23512 A8K1U9;J3QQW9;Q15022 ABBA01014941;ABBA01014942;AC090616;AC129917;AK074333;AK290014;AMYH02033306;AMYH02033307;BC015704;BC018583;CH471147;D63881;DB501687;ES313164;NG_009237;NM_015355;XM_005257954;XM_006721794;XR_243773 AAH15704;BAA09931;BAF82703;EAW80258;NP_056170;Q15022;XP_005258011;XP_006721857 Hs.462732 1675662;1686883;1726261;1768221;2137626;2183624 A007E42;G42375;RH25378;RH75544;RH78003;WI-11887 CHET9;JJAZ1;KIAA0160 OTTHUMP00000163707;chET 9 protein;chromatin precipitated E2F target 9 protein;joined to JAZF1 protein;polycomb protein SUZ12;suppressor of zeste 12 homolog;suppressor of zeste 12 protein homolog APPROVED protein-coding ENSG00000178691 HGNC:17101 06949 606245 REVIEWED 1604136 SUZ12P1 suppressor of zeste 12 homolog pseudogene 1 INTERACTS WITH (-)-epigallocatechin 3-gallate; hydrogen peroxide; potassium chromate 17 17 17 q11.2 25980965 26007489 + 29036626 29097068 + 30709608 30770050 + 6480464 12477932;17999360;19291764;8889548 440423 ABBA01014988;ABBA01014989;AC005562;AC127024;AMYH02033279;BC041912;BC047718;BM689948;NR_024187 Hs.628886 1675662;1685045;1726261;1768221 G42375;RH71187;RH75544;RH78003 SUZ12P APPROVED pseudo HGNC:32421 VALIDATED 6482606 SUZ12P2 suppressor of zeste 12 homolog pseudogene 2 14 14 14 4100172 4100994 + 24237409 24238231 + 23768200 23769022 + 100421539 ABBA01061325;AL160237;AMYH02028873;NG_027340 pseudo HGNC:43872 INFERRED 1604842 SV2A synaptic vesicle glycoprotein 2A ENCODES a protein that exhibits protein kinase binding (ortholog); INVOLVED IN cellular calcium ion homeostasis (inferred); neurotransmitter transport (inferred); transmembrane transport (inferred); PARTICIPATES IN cell-extracellular matrix signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; endoplasmic reticulum; INTERACTS WITH 2-methylcholine; arsane; arsenic atom 1 1 1 q21.2 122990840 123005404 - 149874870 149889434 - 149903318 149917882 - 6480464;6907045;8554872 10611374;10617638;11076863;11230166;11256614;12477932;1519064;15210974;15217342;15342556;15489334;15489336;15822905;16303743;16344560;16381901;16710414;18029348;18391951;18524768;18977120;19220410;19399787;20167814;21139048;21795655;21890473;21936812;23017826;23244111;23275563;23617838;23798571;24284412;7681585;9872452 9900 B4E000;Q7L0J3 AB018279;ABBA01049314;AC239868;AK075480;AK291718;AK303161;AL591493;BC000776;BC034038;BC045111;BP214143;BX537754;CH471121;CQ819355;DA334809;DC305069;NM_001278719;NM_014849 AAH00776;AAH45111;ACE86495;ACE87176;BAA34456;BAC11645;BAF84407;BAG64262;CAD97824;CAG34345;CAI12572;CAI12573;CAL38455;EAW53596;EAW53597;EAW53598;NP_001265648;NP_055664;Q7L0J3 Hs.516153 1336770;1767843;2167123 A002I04;D1S2222;RH12850 KIAA0736;SV2 OTTHUMP00000014065;OTTHUMP00000014066 protein-coding ENSG00000159164 HGNC:20566 08922 185860 VALIDATED 1343420 SV2B synaptic vesicle glycoprotein 2B ENCODES a protein that exhibits transmembrane transporter activity (inferred); INVOLVED IN neurotransmitter transport (inferred); transmembrane transport (inferred); PARTICIPATES IN cell-extracellular matrix signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN membrane (ortholog); synaptic vesicle (ortholog); INTERACTS WITH fonofos; parathion; terbufos 15 15 15 q26.1 68053643 68255113 + 91642996 91844539 + 91099773 91301309 + 634183;6480464;6907045;8554872 7681585 10624962;12477932;14702039;15217342;15466855;15489334;16751776;18367154;18524768;18977120;19043545;19913121;20379614;20628086;23617838;8619474;9110174;9872452 9899 Q7L1I2 AB018278;ABBA01053077;ABBA01053078;AC123784;AC127520;AF052188;AK124722;AK294902;AL109781;AL110287;AMYH02031063;AMYH02031064;BC030011;BG717862;CH471101;CQ819357;CR457086;DC333069;DQ595053;DQ597308;FJ515843;NM_001167580;NM_014848;XM_005254997;XM_005254998 AAH30011;ABM82540;ABW03391;ACS13737;BAA34455;BAG57991;CAG33367;CAG34346;EAX02143;NP_001161052;NP_055663;Q7L1I2;XP_005255054;XP_005255055 Hs.21754 1336795;1338655;1645366;1650659;1655489;1661169;1661171;1682658;1740549;1740617;1778828;1848914;1851931;2109915;2111452;2113170;2134954;2145138;2160575;2163136 A001V40;A004Q15;D15S1120;D15S1139;D15S1155;D15S1495;D15S158;D15S840;D15S963;G19697;RH15750;RH15767;SHGC-2192;STS-AA012827;STS-AA019712;STS-R44021;STS-Z41392;SV2B_9014;WI-15807;WI-21838 FLJ30413;FLJ42732;HsT19680;KIAA0735 OTTHUMP00000194749;OTTHUMP00000246710;OTTHUMP00000246711;synaptic vesicle protein 2B homolog protein-coding ENSG00000185518 HGNC:16874 11765 185861 VALIDATED 1346779 SV2C synaptic vesicle glycoprotein 2C ENCODES a protein that exhibits transmembrane transporter activity (inferred); INVOLVED IN neurotransmitter transport (inferred); transmembrane transport (inferred); PARTICIPATES IN cell-extracellular matrix signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction (inferred); integral component of membrane (inferred); synaptic vesicle (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; arsenite(3-); methylmercury chloride 5 5 5 q13.3 71320469 71515084 + 75378997 75649764 + 76083172 76353939 + 634114;6480464;6907045;8554872 9801366 10470851;12477932;14702039;15217342;15466855;15489334;18977120;20379614;23617838;23650146;23793025;23886675;24240280;24324551 22987 B3KT41;Q496J9 AB028977;ABBA01061951;ABBA01061952;ABBA01061953;ABBA01061954;ABBA01061955;AC026774;AC026783;AC108091;AC113404;AK094917;AMYH02011597;AMYH02011598;AMYH02011599;AMYH02011600;AMYH02011601;AMYH02011602;BC100824;BC100825;BC100826;BC100827;CH471084;CQ819359;DA725900;KC877017;NM_001297716;NM_014979;R44558;XM_005248470 AAI00825;AAI00826;AAI00827;AAI00828;BAA83006;BAG52953;CAG34347;EAW95771;EAW95772;NP_001284645;NP_055794;Q496J9;XP_005248527 Hs.646953;Hs.663229 1653476;1704918;1712827;1736292;1746625;1758677;1766403;1772490;1785592;1787778;2120115;2167792;5016464;5491812 AFM310vg1;AFMa119xe1;D12S1240E;G64485;GDB:384854;RH120130;SHGC-12704;SHGC-13322;SHGC-149138;SHGC-149746;SHGC-155222;SHGC-173150;SHGC-79936;SV2C MGC118874;MGC118875;MGC118876;MGC118877 OTTHUMP00000221933;OTTHUMP00000221934;synaptic vesicle protein 2C protein-coding ENSG00000122012 HGNC:30670 18753 610291 VALIDATED 1350967 SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 ENCODES a protein that exhibits calcium ion binding (inferred); chromatin binding (inferred); INVOLVED IN cell adhesion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); extracellular region (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 9 9 9 q32 83629159 83843852 - 113127528 113342160 - 110365248 110579880 - 6480464;8554872 10737800;11062057;12477932;14702039;15231748;16206243;18029348;18711365;20236627;20361209;20379614;20834067;21556780;22424883;22654117;23386860 79987 B3KQM1;Q4LDE5;Q5JB40 ABBA01042747;ABBA01042748;AJ619977;AK075200;AK075234;AK122605;AL158158;AL354982;AL592463;AL832416;AMYH02021452;AMYH02021453;AMYH02021454;AMYH02021455;AMYH02021456;AMYH02021457;AMYH02021458;AMYH02021459;AY243503;AY916667;BC030816;BC039727;BC047729;BF368046;BU077276;BX106110;CX165144;DR008048;DV080389;KF458937;NM_153366 AAH30816;AAQ89957;AAX12481;BAG52083;BAG52091;BAG53619;CAF04067;NP_699197;Q4LDE5 Hs.522334;Hs.726867 1337905;1660373;1673759;1682984;1688512;1733210;1754351;1778746;1786932;1794282;1853399;2147132;2160724 D9S1828;D9S2010;D9S747;G10589;PMC310921P1;RH12799;RH47642;RH70073;RH91731;SHGC-132375;SHGC-142066;SHGC-24282;STS-R82656 C9orf13;CCP22;FLJ16013;FLJ90719;SEL-OB CCP module-containing protein 22;OTTHUMP00000021897;POLYDOM;SELOB;chromosome 9 open reading frame 13;selectin-like osteoblast-derived protein;selectin-like protein;serologically defined breast cancer antigen NY-BR-38;sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 protein-coding ENSG00000165124 HGNC:15985 611691 VALIDATED 8698716 SVIL-AS1 SVIL antisense RNA 1 10 29465757 29467615 + 12477932 102724316 AA564262;AL158167;BC031656;BC063483;BC066966;BC107795;BF511092;BF739922;BM925434;BX461223;DA024320;DA715011;DA745252;DA952579;KF455216;NR_003930;NR_110920;NR_110921;NR_110922;NR_110923;NR_110924;NR_110925;NR_110926;NR_110927;NR_110928;NR_110929;XR_428683 Hs.499209;Hs.660899 ncrna HGNC:51219 VALIDATED 7205019 SVILP1 supervillin pseudogene 1 10 10 10 p11.23 30692519 30771584 + 30981203 31005942 + 30692274 30717013 + 6480464 11181995;16344560 645954 ABBA01034338;AK302694;AL451107;AMYH02022562;AMYH02022563;CH471072;DB077580;NR_036438 BAG63923;EAW86000;EAW86001;EAW86002 Hs.408581 1652274;1689043;1697438;1751737;1773900;1847344;2154507;2187180 D10S1473;RH102220;RH68411;RH69678;RH93948;SGC38028;SHGC-105709;STS-R38291 pseudo HGNC:44959 VALIDATED 2306136 SVIP small VCP/p97-interacting protein ENCODES a protein that exhibits protein self-association; INVOLVED IN negative regulation of ER-associated ubiquitin-dependent protein catabolic process; negative regulation of protein complex assembly; positive regulation of autophagy; PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; FOUND IN endoplasmic reticulum membrane; extracellular vesicular exosome; Hrd1p ubiquitin ligase complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; cyclosporin A 11 11 11 p14.2 22977457 22985238 - 22843598 22851382 - 22822052 22829836 - 6480464;6907045 12529442;14702039;17872946;18793143;19615732;21546767;21909394;21914798;24055875;24100225;24816145 258010 Q8NHG7 ABBA01061014;AC006299;AF527534;AK095023;AL833119;AMYH02024437;CH471064;NM_148893 AAM88869;EAW68312;EAW68313;EAW68315;NP_683691;Q8NHG7 Hs.349096 1648238;1665249;1677082;1730207;1748491;1848954;2117236;2131923;5092922;7186068 A006S18;A009C18;D11S947E;G32414;RH70384;SHGC-33590;SHGC-538;SHGC-64301;WI-13884 DKFZp313A2432 OTTHUMP00000231854 protein-coding HGNC:25238 PROVISIONAL 732263 SVOP SV2 related protein homolog (rat) ENCODES a protein that exhibits ion transmembrane transporter activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN ion transmembrane transport (inferred); transmembrane transport (inferred); FOUND IN synaptic vesicle (ortholog); INTERACTS WITH all-trans-retinoic acid; vincristine; aflatoxin B1 (ortholog) 12 12 12 q24.11 108973131 109082778 - 109304658 109372453 - 108910882 109021040 - 6480464 12477932;17714910;23864651 55530 F8VNW2;H0YHK4;H0YHQ5;Q8N4V2 ABBA01005058;ABBA01053120;AC087893;AC174068;AC190387;AEKP01032148;AK309780;AL359592;AMYH02027160;BC033587;BC037811;BC094722;BE467440;CH471054;CQ819361;DA183247;DA793417;DB297770;KF455704;KF455712;NM_018711 AAH33587;AAH94722;ACT64461;CAB94878;CAG34348;EAW97839;EAW97840;EAW97841;NP_061181;Q8N4V2 Hs.27226;Hs.4221;Hs.595078 2189833 27-1 DKFZp761H039 OTTHUMP00000241061;SV2-related protein;synaptic vesicle 2-related protein protein-coding HGNC:25417 13224 611699 VALIDATED 1603906 SVOPL SVOP-like ENCODES a protein that exhibits transmembrane transporter activity (inferred); INVOLVED IN transmembrane transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); trimellitic anhydride (ortholog) 7 7 7 q34 133017684 133101567 - 138279030 138385969 - 138594285 138701224 - 6480464;8554872 12477932;17714910;21565611;21963094 136306 C9JVJ9;F8WES3;Q8N434 ABBA01001169;ABBA01001170;ABBA01001171;ABBA01001172;AC013429;AC020983;AL704123;AMYH02016868;AMYH02016869;AMYH02016870;BC036796;BX349158;BX648789;CH236950;CH471070;NM_001139456;NM_174959;XM_005250143 AAH36796;EAW83887;EAW83888;EAW83889;EAW83890;NP_001132928;NP_777619;Q8N434;XP_005250200 Hs.99414 1337404;2114400;7186571 D7S2450;G17152 MGC46715 OTTHUMP00000208836;OTTHUMP00000208838;OTTHUMP00000208839;SV2 related protein homolog-like;SV2-related protein-like;SVOP-like protein;putative transporter SVOPL protein-coding ENSG00000157703 HGNC:27034 11235 611700 VALIDATED 1352606 SVS1 seminal vesicle secretion 1 6841 HGNC:11482 1343293 SVS2 seminal vesicle secretion 2 634192 2351680 6842 J05443 HGNC:11483 1346414 SVS8 seminal vesicle secretion 8 12354160 337958 AF055981 HGNC:18702 1314924 SVIL supervillin This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Two transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Jul 2008] 10 10 10 p11.2 29511358 29789724 - 29746274 30025864 - 29457338 29736935 - 1580863;6480464;8554872 10362542;11707406;11792840;11977079;12202484;12477932;12711699;12917436;14702039;15302935;15324660;15383618;16169070;16385451;16880273;17081983;17110338;17925381;18029348;18639526;18984674;19010793;19047128;19109420;19683541;20309963;20331534;20360068;20379614;21070852;22550155;22939629;23000965;23382381;23398456;23750008;23752268;24088567;24337577;25015289;9382871;9867483 6840 O95425;Q569J5 ABBA01034363;ABBA01034364;ABBA01034365;AF051850;AF051851;AF109135;AI028650;AK001792;AK302077;AK304720;AK304799;AK307640;AK310272;AL117410;AL158167;AL159170;AL160060;AMYH02022547;AMYH02022548;AMYH02022549;AMYH02022550;BC092440;BX457194;BX648589;CH471072;JX467682;KF455216;NG_033998;NM_003174;NM_021738;XM_005252564;XM_005252565;XM_005252566;XM_005252567;XM_005252568;XM_005252569;XM_005252570;XM_005252571;XM_005252572;XM_005252573;XM_006717492;XM_006717493;XM_006717494;XM_006717495;XM_006717496 AAC64695;AAC64696;AAD14682;AAH92440;AAI72362;AGE81989;BAG63466;BAG65483;BAG65549;CAH56147;CAH56399;EAW86018;EAW86019;EAW86020;NP_003165;NP_068506;O95425;XP_005252621;XP_005252622;XP_005252623;XP_005252624;XP_005252625;XP_005252626;XP_005252627;XP_005252628;XP_005252629;XP_005252630;XP_006717555;XP_006717556;XP_006717557;XP_006717558;XP_006717559 Hs.499209 1339740;1646460;1649235;1662894;1682513;1689043;1697438;1697982;1736038;1751737;1766471;1767585;1773900;1847344;1855212;2106669;2118537;2136664;2144027;2144712;2144896;2150230;2154507;2156531;2169954;2171402;2185382;2187180 A004A11;A008M13;AFMB345WE9;D10S1276E;D10S1311E;D10S1684;D10S2195;G09305;G17403;RH102220;RH102520;RH41980;RH44745;RH68411;RH69678;RH77761;RH93747;RH93948;SGC32304;SGC38028;SGC44521;SHGC-105709;SHGC-149800;SHGC-30724;SHGC-44521;STS-R38291;SVIL__5358;WI-20487 DKFZp686A17191 OTTHUMP00000019388;OTTHUMP00000019389;archvillin;membrane-associated F-actin binding protein p205;p205/p250 APPROVED protein-coding ENSG00000197321 HGNC:11480 04992 604126 REVIEWED 1604631 SWAP70 SWAP switching B-cell complex 70kDa subunit ENCODES a protein that exhibits ATP binding (inferred); calcium ion binding (inferred); DNA binding (inferred); INVOLVED IN isotype switching (inferred); FOUND IN cell projection (inferred); cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; 5-fluorouracil; all-trans-retinoic acid 11 11 11 p15 9807053 9895904 + 9685624 9774508 + 9664077 9752961 + 6480464 10681448;11726218;12421765;12477932;12925760;14702039;15489334;16344560;16418221;16547421;17371938;18029348;20800603;21139048;22210919;22247562;22728961;22863883;22939629;22944692;24722188;24816145;9642267;9734811 23075 E7EMB1;E9PJK8;E9PJM7;H0YDK5;Q9UH65 AB014540;ABBA01061165;ABBA01061166;ABBA01061167;AC011979;AC026250;AF134894;AF161439;AF210818;AI693686;AK027131;AK096859;AK304104;AL110154;AMYH02024321;AMYH02024322;AMYH02024323;BC000134;BC000616;CH471064;DA413747;NM_001297714;NM_015055;XM_005252829;XM_005252830 AAF24486;AAF28999;AAF61403;AAH00616;BAA31615;BAG53381;BAG65007;EAW68582;EAW68583;EAW68584;EAW68585;NP_001284643;NP_055870;Q9UH65;XP_005252886;XP_005252887 Hs.153026 1691284;1698576;1699112;1738179;2121926;5037552 D11S3808;D8S2279;G17605;RH102840;RH103132;RH81040 FLJ39540;HSPC321;KIAA0640;SWAP-70 OTTHUMP00000231344;OTTHUMP00000231368;switch-associated protein 70 protein-coding ENSG00000133789 HGNC:17070 10378 604762 VALIDATED 1601725 SWSAP1 SWIM-type zinc finger 7 associated protein 1 ENCODES a protein that exhibits ATPase activity; single-stranded DNA binding; INVOLVED IN ATP catabolic process; double-strand break repair via homologous recombination; protein stabilization; FOUND IN Shu complex; INTERACTS WITH 3-methylcholanthrene; copper(2+) sulfate 19 19 19 p13.2 11380249 11382493 + 11485383 11487627 + 11374707 11376951 + 6480464 12477932;14702039;21163940;21965664 126074 Q6NVH7 ABBA01029859;AC024575;AK092438;AMYH02035526;BC068071;BC119677;CH471106;NM_175871 AAH68071;AAI19678;BAC03891;EAW84204;NP_787067;Q6NVH7 Hs.631619 5015619;5015959;5037552;5037554 D10S2448;D11S3114;D8S2279;D8S2282 C19orf39;FLJ35119;MGC149562;MGC78620;SWS1AP1;ZSWIM7AP1 ATPase SWSAP1;SWIM-type zinc finger 7-associated protein 1;SWS1-associated protein 1;ZSWIM7-associated protein 1;hypothetical protein LOC126074;uncharacterized protein C19orf39;zinc finger, SWIM-type containing 7 associated protein 1 APPROVED protein-coding ENSG00000173928 HGNC:26638 08179 614536 VALIDATED 1350090 SWI5 SWI5 recombination repair homolog (yeast) INVOLVED IN cellular response to ionizing radiation; double-strand break repair via homologous recombination; FOUND IN Swi5-Sfr1 complex; nucleus (ortholog); INTERACTS WITH all-trans-retinoic acid; cyclosporin A; methyl methanesulfonate 9 9 9 q34.11 101689329 101702173 + 131037663 131051268 + 128275384 128288989 + 737633;6480464 12477932 20976249;21252223;24250222 375757 H3BLW9;H7C3F2;H7C5E9;Q1ZZU3;V9GYD7;V9GZ11 ABBA01043872;ABBA01043873;AK311408;AL590708;AMYH02021710;BC029911;DQ414820;NM_001040011;XM_005251982 AAH29911;ABD72916;NP_001035100;Q1ZZU3;XP_005252039 Hs.259594 2136524 CHLC.GGAA8B04 C9orf119;bA395P17.9 DNA repair protein SWI5 homolog;HBV DNAPTP1-transactivated protein A;OTTHUMP00000022228;OTTHUMP00000022229;OTTHUMP00000215541;hypothetical protein LOC375757;protein SAE3 homolog APPROVED protein-coding ENSG00000175854 HGNC:31412 VALIDATED 1353710 SYAP1 synapse associated protein 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; Golgi apparatus; nucleus; INTERACTS WITH genistein; hydrogen peroxide; paracetamol X X X p22.2 20856106 20899205 + 16737707 16780807 + 16719584 16762684 + 6480464;8554872 11483580;12477932;12549212;14702039;15302935;15489334;16344560;16964243;17081983;18029348;21044950;21139048;21890473;21963094;22053931;22939629;23000965;23300339;8125298 94056 Q53GS5;Q96A49 AA829759;ABBA01071453;ABBA01071454;ABBA01071455;ABBA01071456;ABBA01071457;ABBA01071458;ABBA01071459;AF168955;AF305828;AF338728;AK027401;AK126173;AK222856;AK295322;AK303783;AK314675;AL445467;AMYH02038930;BC001468;BC014657;CH471074;CR749849;DB047379;DB577454;NG_016374;NM_032796;NR_033181 AAH14657;AAK55531;AAK69273;AAK81893;ACE87132;BAB55087;BAD96576;BAG37229;BAG58299;BAG64741;CAH18697;EAW98917;NP_116185;Q96A49 Hs.744256 1675329;1699014;2153818;5015619;5022463;5037552 D11S3114;D3S1673;D8S2279;G10389;RH103079;RH65480 DKFZp686K221;FLJ14495;FLJ44185;PRO3113 OTTHUMP00000022984;SAP47 homolog;synapse associated protein 1, SAP47 homolog;synapse-associated protein 1 APPROVED protein-coding HGNC:16273 06733 VALIDATED 1318617 SWT1 SWT1 RNA endoribonuclease homolog (S. cerevisiae) INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine; cisplatin 1 1 1 q25 158236887 158371608 + 185126155 185260913 + 185150872 185291781 + 6480464 11318611;12477932;14702039;15489334;16710414;19127978;19240061;20200978;20237496;23768067;8125298 54823 B3KXU9;Q5T5J6;Q5TC96 ABBA01027720;ABBA01027721;ABBA01027722;ABBA01027723;AF288392;AK000128;AK093263;AK127980;AK225238;AK291443;AK315802;AL136133;AL356273;AMYH02002306;AMYH02002307;AMYH02002308;BC030781;BI756018;CH471067;DB453411;DB518900;NM_001105518;NM_017673;XM_005245271;XM_005245273;XM_006711391;XM_006711392 AAG60612;AAH30781;BAA90960;BAF84132;BAG52678;BAG54611;EAW91191;NP_001098988;NP_060143;Q5T5J6;XP_005245328;XP_005245330;XP_006711454;XP_006711455 Hs.134183 1340875;1667095;2150442;7186560 D1S240;SHGC-76049;WI-11204 C1orf26;FLJ20121;FLJ35944;HsSwt1 OTTHUMP00000033402;OTTHUMP00000033403;hypothetical protein LOC54823;transcriptional protein SWT1 APPROVED protein-coding ENSG00000116668 HGNC:16785 10726 VALIDATED 1604347 SYBU syntabulin (syntaxin-interacting) Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008] 8 8 8 q23.2 106773801 106891437 - 110586405 110704020 - 109574176 109691791 - 6480464 10819331;12107410;12477932;14702039;15459722;15656992;16157705;16169070;16344560;16713569;16750881;17043677;17611281;20379614;22975310;8889548 55638 B3KRD1;B7Z4D2;E9PI48;E9PJ11;E9PK96;E9PL50;E9PL66;E9PLB9;E9PN31;E9PNN9;E9PPC2;E9PPS4;E9PQE2;E9PQG2;E9PRH8;E9PRT7;Q9NX95 AB040905;AB195676;AB195677;AB195678;AB195679;ABBA01037714;ABBA01037715;AC079061;AK000373;AK055246;AK090559;AK091374;AK096558;AK290469;AK297182;AL713645;AL834406;AMYH02018604;AY705385;BC012082;BG702715;BU607867;CA395128;CH471060;DA155137;DA530258;DA773983;DA787454;DA803330;DB127917;DB155885;DC350594;DN993094;NM_001099743;NM_001099744;NM_001099745;NM_001099746;NM_001099747;NM_001099748;NM_001099749;NM_001099750;NM_001099751;NM_001099752;NM_001099753;NM_001099754;NM_001099755;NM_001099756;NM_017786;XM_005250999;XM_005251000;XM_006716600;XM_006716601 AAH12082;AAU93914;BAA91121;BAA95996;BAD72976;BAD72977;BAD72978;BAD72979;BAF83158;BAG52185;BAG52343;BAG53323;BAH12518;CAD28457;CAD39068;EAW91935;EAW91936;EAW91937;NP_001093213;NP_001093214;NP_001093215;NP_001093216;NP_001093217;NP_001093218;NP_001093219;NP_001093220;NP_001093221;NP_001093222;NP_001093223;NP_001093224;NP_001093225;NP_001093226;NP_060256;Q9NX95;XP_005251056;XP_005251057;XP_006716663;XP_006716664 Hs.390738 1682425;1735828;1765629;1765753;1786860;1851809;1858452;2115061;2133221;2143355;2172448;2172450 A004G12;A004W27;A006R45;BCD1229;D8S1430E;D8S1594;D8S423;RH18239;SHGC-149074;SHGC-149185;SHGC-172485;SHGC-24304 FLJ20366;KIAA1472;SNPHL GOLSYN;GOLSYN A protein;GOLSYN B protein;GOLSYN C protein;Golgi-localized protein;OCSYN;OTTHUMP00000230549;OTTHUMP00000230550;OTTHUMP00000230551;OTTHUMP00000230552;OTTHUMP00000230553;OTTHUMP00000230554;OTTHUMP00000230556;OTTHUMP00000230557;OTTHUMP00000230558;OTTHUMP00000230560;OTTHUMP00000230563;OTTHUMP00000230564;golgi-localized syntaphilin-related protein;implicated in syntaxin trafficking in neurons;microtubule-associated protein;syntabulin;syntaphilin-like;syntaxin-1-binding protein APPROVED protein-coding ENSG00000147642 HGNC:26011 07902 611568 VALIDATED 1352832 SYCE1 synaptonemal complex central element protein 1 INVOLVED IN synaptonemal complex assembly (inferred); FOUND IN central element (ortholog); INTERACTS WITH benzo[a]pyrene (ortholog); potassium dichromate (ortholog); titanium dioxide (ortholog) 10 10 10 q26.3 128138411 128153759 + 135367404 135381795 - 133553900 133568291 - 737633;6480464 12477932 11829491;15164054;15489334;15944401;16344560;17207965;24722188 93426 Q8N0S2 ABBA01006222;AC245077;AK309935;AK314978;AL161645;AY027807;AY027808;AY028079;BC034821;CH471211;DB053356;DB303602;DB336153;NM_001143763;NM_001143764;NM_130784 AAH34821;AAK14796;AAK14797;AAK21976;ADQ32490;BAG37477;EAW61359;EAW61360;NP_001137235;NP_001137236;NP_570140;Q8N0S2 Hs.553795 1789114;2138441 G65691;RH47563 C10orf94;CT76;FLJ99976;RP11-108K14.6;bA108K14.6 OTTHUMP00000020812;cancer/testis antigen 76 protein-coding ENSG00000171772 HGNC:28852 12598 611486 VALIDATED 1603348 SYCE2 synaptonemal complex central element protein 2 The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012] 19 19 19 p13.2 12899602 12919804 - 13009894 13030116 - 12898738 12919302 - 6480464;8554872 12477932;14702039;15057824;15489334;15944401;17339376;19913121;20628086;22870393;23222517;24250222 256126 K7EM50;Q6PIF2 ABBA01029763;AC092069;AD000092;AK097443;AK302373;AMYH02035560;BC035819;DB449708;NG_033049;NM_001105578;XM_005259848 AAH35819;AAI72302;BAG63695;NP_001099048;Q6PIF2;XP_005259905 Hs.655173 1767823;1770857;2120472;2133532;2181893;2183210;5016715;5020740;5020946;5022578;5023327;5024039;5024413;5118802 D11S3665;D16S325;D19S1133;D1S1423;L17809;L17877;L17971;L18023;RH17829;RH44737;RH46338;RH99313;SHGC-24430;WI-17002 CESC1 central element synaptonemal complex 1;central element synaptonemal complex protein 1 protein-coding ENSG00000161860 HGNC:27411 611487 REVIEWED 2303881 SYCE3 synaptonemal complex central element protein 3 INVOLVED IN reciprocal meiotic recombination (ortholog); spermatogenesis (ortholog); synaptonemal complex assembly (ortholog); FOUND IN central element (ortholog); chromosome (ortholog); nucleus (ortholog) 22 22 22 q13.33 34865573 34877362 - 50989541 51001328 - 50551112 50562899 - 12477932;15489334;19323366;21637789;24722188 644186 A1L190 ABBA01042624;ABBA01042625;AMYH02038618;AMYH02038619;AX971765;BC127859;BC127860;CH471138;EU082028;NM_001123225;U62317 A1L190;AAI27860;AAI27861;ABU52998;CAF16873;EAW73567;NP_001116697 Hs.535660 C22orf41;THEG2 OTTHUMP00000197090;hypothetical protein LOC644186;testis highly expressed gene 2 protein;testis highly expressed protein 2;uncharacterized protein C22orf41 APPROVED protein-coding ENSG00000217442 HGNC:35245 615775 PROVISIONAL 1604473 SYCN syncollin INVOLVED IN exocytosis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN secretory granule membrane (inferred); INTERACTS WITH dioxygen; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.2 36497137 36498481 - 39693562 39694906 - 39202922 39204266 - 6480464;8554872 11839820;12477932;24007603 342898 Q0VAF6 ABBA01040721;AC011443;AK130951;AMYH02036087;BC039541;BC121075;BC121076;NM_001080468 AAI21076;AAI21077;NP_001073937;Q0VAF6 Hs.124123 FLJ27441;INSSA1;SYL insulin synthesis associated 1;insulin synthesis-associated protein 1 protein-coding ENSG00000179751 HGNC:18442 PROVISIONAL 2902459 SYCE1L synaptonemal complex central element protein 1-like INVOLVED IN synaptonemal complex assembly (inferred); FOUND IN synaptonemal complex (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); potassium dichromate (ortholog); titanium dioxide (ortholog) 16 16 16 q23.1 61530886 61544503 + 77233349 77246976 + 77199452 77213079 + 6480464 16328886 100130958 A8MT33;H3BME6 ABBA01017038;ABBA01017039;AC009139;AMYH02032426;BC035731;NM_001129979 A8MT33;NP_001123451 Hs.734779 1660181;1662371;1676718;1686480 RH15625;RH65163;RH79596;SHGC-32952 MRP2 meiosis-related protein protein-coding ENSG00000205078 HGNC:37236 PROVISIONAL 1347912 SYCP1L2 synaptonemal complex protein 1-like 2 6848 HGNC:11488 1351298 SYCP1L3 synaptonemal complex protein 1-like 3 6849 HGNC:11489 1347800 SYCP1 synaptonemal complex protein 1 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN synaptonemal complex assembly (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN central element (inferred); male germ cell nucleus (inferred); transverse filament (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cetrorelix; desogestrel 1 1 1 p13-p12 113626675 113767206 + 115397455 115537991 + 114854803 114995370 + 1580863;6480464;8554872 11149944;12477932;1464329;15944401;16030183;17370265;17608150;20360068;20378615;20800603;21139048;22505724;9119375;9371398;9560255 6847 B7ZLS9;Q15431;Q5VXJ5 AA868393;ABBA01068469;ABBA01068470;ABBA01068471;AF273043;AK315268;AL358372;AL645502;AMYH02001786;AMYH02001787;BC026162;BC065190;BC105299;BC126266;BC144019;BC144020;BG772129;BI561137;CH471122;D67035;NM_001282541;NM_001282542;NM_003176;NR_104211;X95654;XM_005271154;XM_005271155;XM_005271156;XM_006710859 AAG34903;AAI05300;AAI26267;AAI44020;BAA22586;CAA64956;EAW56621;EAW56622;EAW56623;EAW56624;NP_001269470;NP_001269471;NP_003167;Q15431;XP_005271211;XP_005271212;XP_005271213;XP_006710922 Hs.112743 1688372;1692676;1693246;1693252;1753447;1769106;2108547 AL033577;AL033578;AL034105;RH64866;SHGC-107404;SHGC-75370;SYCP1_8664 CT8;HOM-TES-14;MGC104417;SCP-1;SCP1 OTTHUMP00000013876;OTTHUMP00000013877;OTTHUMP00000013878;cancer/testis antigen 8 protein-coding ENSG00000198765 HGNC:11487 03698 602162 VALIDATED 1604969 SYCP2L synaptonemal complex protein 2-like ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH trichostatin A; valproic acid 6 6 6 p24.2 12115512 12202979 + 10887064 10974542 + 10886831 10974309 + 6480464;8554872 12477932;16344560;18029348;19448621;21829377;21832049;22267201;24159190 221711 B4DFB8;Q5T4T6 ABBA01022089;ABBA01022090;ABBA01022091;ABBA01022092;ABBA01022093;ABBA01022094;AI027433;AK128130;AL121955;AL357497;AM293674;AMYH02013101;AMYH02013102;BC012225;CH471087;DA620756;DB077181;NM_001040274 AAH12225;BAC87288;CAL25570;EAW55288;NP_001035364;Q5T4T6 Hs.729128 1723621;1856617;2125063;2150616;2175131 AL031213;RH122351;RH46672;SHGC-57101;WI-18267 C6orf177;NO145;dJ62D2.1 145 kDa nucleolar protein homolog;OTTHUMP00000016027;SCP-2-like;hsNO145 protein-coding ENSG00000153157 HGNC:21537 11248 VALIDATED 733070 SYCP3 synaptonemal complex protein 3 This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010] 12 12 12 q 101786455 101797279 - 102122426 102133474 - 101728648 101739689 - 1580863;6480464;7240710;8699517;8554872 10854409;11329013;11591653;12213195;12477932;12759374;14643120;14702039;15218256;15489334;16213863;16824523;17434513;18256545;19110213;20339291;20395201;21126912;21357605;22116401;22197129;22670862;22990118;23069255;23100464 50511 Q8IZU3 ABBA01053237;AC063950;AF492003;AF517774;AI015251;AK125930;AMYH02027073;BC062662;BG201028;BG202454;BQ428625;CH471054;NG_021181;NM_001177948;NM_001177949;NM_153694;XM_005268922;XM_005268923;XM_005268924;XM_005268925;XM_005268926;XM_005268927 AAH62662;AAN06611;AAP47204;EAW97678;EAW97679;EAW97680;EAW97681;NP_001171419;NP_001171420;NP_710161;Q8IZU3;XP_005268979;XP_005268980;XP_005268981;XP_005268982;XP_005268983;XP_005268984 Hs.506504 1648636;1767107;2109917;2150270 RH44831;RH77822;SYCP3_9645;WI-14986 COR1;MGC71888;SCP3;SPGF4 OTTHUMP00000196388;OTTHUMP00000196389;OTTHUMP00000196390 APPROVED protein-coding ENSG00000139351 HGNC:18130 07265 270960;604759 REVIEWED 69483 SYCP2 synaptonemal complex protein 2 The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 55179316 55247887 - 58438612 58508704 - 59863557 59933647 - 69387;1580863;6480464;8554872 9592139 10341103;11780052;12477932;20378615 10388 A2A2M9;A2A340;A2A341;Q8IWA1;Q9BX26 ABBA01005957;ABBA01005958;AK308889;AL080226;AL109928;AL158092;AMYH02037385;AMYH02037386;BC040566;BC132864;BC132870;BC146798;BQ575787;BX648091;BX649108;CH471077;KF456972;NM_014258;XM_005260247;XM_006723681;Y08982 AAH40566;AAI32865;AAI32871;AAI46799;CAA70171;CAB45780;EAW75426;EAW75427;NP_055073;Q9BX26;XP_005260304;XP_006723744 Hs.202676 1690692;1707060;1708946;2108951 RH92762;SHGC-79529;SHGC-81285;SYCP2_9099 SCP-2;SCP2;hsSCP2 OTTHUMP00000031430;OTTHUMP00000174469;synaptonemal complex lateral element protein APPROVED protein-coding ENSG00000196074 HGNC:11490 06822 604105 REVIEWED 1602201 SYDE1 synapse defective 1, Rho GTPase, homolog 1 (C. elegans) ENCODES a protein that exhibits Rho GTPase activator activity (ortholog); INVOLVED IN activation of Rho GTPase activity (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cerebellar mossy fiber (inferred); cytosol (inferred); intracellular (inferred); INTERACTS WITH aflatoxin B1; calcitriol; doxorubicin 19 19 19 p13.12 15113949 15121526 + 15218214 15225790 + 15107403 15114978 + 6480464;8554872 12477932;14702039;19531213;21139048 85360 M0QXZ8;M0R101;M0R3D3;Q6ZW31 ABBA01051097;AC004794;AF209931;AK023573;AK123686;AK128870;AK315453;AMYH02035642;AW134866;BC018942;BC029926;CH471106;DB318292;HY178244;NM_001300910;NM_033025;XM_005260126 AAC18917;AAF22843;AAH18942;AAH29926;BAB14612;BAC85676;BAG37840;EAW84461;EAW84462;EAW84463;NP_001287839;NP_149014;Q6ZW31;XP_005260183 Hs.528701;Hs.706845 1654850;1665591;1767600;2109433;2147440;2159169;2175003;2175005 D19S647E;D19S825;D19S849;ILVBL_9207;RH12226;RH12349;SGC33062;WI-11575 7h3;FLJ13511 protein syd-1 homolog 1;rho GTPase-activating protein SYDE1;synapse defective protein 1 homolog 1 protein-coding ENSG00000105137 HGNC:25824 07830 PROVISIONAL 1602090 SYDE2 synapse defective 1, Rho GTPase, homolog 2 (C. elegans) ENCODES a protein that exhibits Rho GTPase activator activity (ortholog); INVOLVED IN activation of Rho GTPase activity (ortholog); FOUND IN cytosol (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; coumestrol 1 1 1 p22.3 83867794 83911153 - 85623356 85667292 - 85157673 85201609 - 6480464 14702039;17549794 84144 Q5VT97 ABBA01045641;ABBA01045642;AF085890;AL603750;AL834286;AMYH02001382;NM_032184;XM_005271252;XM_005271254;XM_005271256;XM_006710945;XM_006710946 CAD38960;NP_115560;Q5VT97;XP_005271309;XP_005271311;XP_005271313;XP_006711008;XP_006711009 Hs.533853;Hs.670497 1713749;2117887;2172888;5022641 D11S2843;RH120760;SHGC-30719;WI-17569 FLJ13815;RP11-33E12.1 OTTHUMP00000063302;protein syd-1 homolog 2;rho GTPase-activating protein SYDE2;synapse defective protein 1 homolog 2 protein-coding ENSG00000097096 HGNC:25841 VALIDATED 1603674 SYF2 SYF2 pre-mRNA-splicing factor This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 23873323 23883569 - 25548767 25559013 - 25222276 25232522 - 6480464;6907045 11118353;11230166;11256614;11991638;12477932;15489334;16710414;16951160;20360068;21139048;21832049;24250222;24816145 25949 O95926 ABBA01059929;AC247058;AF273089;AI311782;AK303582;AK314859;AL031432;AL080166;BC010862;BC015824;BF057608;BG390792;BI668848;CH471134;CV806249;DR155437;NM_015484;NM_207170 AAG42073;AAH10862;ABM81589;ABW03276;BAG37375;BAG64600;CAB45754;EAW95152;EAW95153;EAW95154;EAW95155;NP_056299;NP_997053;O95926 Hs.20013 2109615;2158816;2162531;2182026;5015619;5015861;5037552;5491236;7185938 A004T06;D10S16;D11S3114;D1S3130;D8S2279;MARC_3071-3072:991936691:3;P29_9435;SHGC-74397 CBPIN;DKFZp564O2082;NTC31;P29;fSAP29 CCNDBP1 interactor;CCNDBP1-interactor;GCIP-interacting protein p29;OTTHUMP00000040538;OTTHUMP00000040539;SYF2 homolog, RNA splicing factor;functional spliceosome-associated protein 29;pre-mRNA-splicing factor SYF2 APPROVED protein-coding HGNC:19824 07386 607090 REVIEWED 3516428 SYF2P2 SYF2 pre-mRNA-splicing factor pseudogene 2 9 9 9 p13.3 34942634 34943168 + 35010732 35011266 + 35010735 35011269 + 100128275 ABBA01064998;AL355377;AMYH02019455;NG_021644 APPROVED pseudo HGNC:38139 INFERRED 1344880 SYF2P1 SYF2 pre-mRNA-splicing factor pseudogene 1 14 14 14 q12 10876786 10877224 - 31010956 31011394 - 30541750 30542188 - 317778 ABBA01061403;AL117355;AMYH02028936;NG_002474 CBPINP;SYF2P ccndbp1 interactor pseudogene APPROVED pseudo HGNC:19925 INFERRED 1342491 SYM1 symphalangism 1 (proximal) ASSOCIATED WITH BRACHYDACTYLY, TYPE B2 (inferred); Cushing's symphalangism (inferred); MULTIPLE SYNOSTOSES SYNDROME 1 (inferred) 7240710 9634519 HGNC:11492 184460;185800;186500;186570;611377 1351051 SYM2 symphalangism 2 (distal) 6852 HGNC:11493 1315523 SYMPK symplekin This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 43123735 43171584 - 46318700 46366548 - 45815442 45863290 - 1580863;6480464;6907045;8554872 10413599;10669729;11181995;12477932;12549820;14533737;14707147;15302935;15489334;15550246;15561718;16055720;16230528;16344560;17158914;17880531;18029348;18688255;19328795;19471022;20133805;20601676;20823274;20861839;21139048;21549307;21693764;21890473;21906983;22218735;22586326;23000965;23443559;23994619;24250222;24332808;24550385;24816145;8769423;9330635;9585442;9700202 8189 M0QXP5;M0R033;M0R039;M0R180;M0R1C2;M0R3C7;Q92797 AB209024;AB210010;ABBA01040953;ABBA01040954;AC008623;AC092301;AF049526;AK130602;AK300252;AMYH02036209;AMYH02036210;BC006536;BC006567;BC030214;BU752018;BX649165;CH471126;DB044963;DB461873;NM_004819;U49240;U88726;XM_005259286;XR_243962;Y10931 AAB58578;AAC27504;AAC50667;AAH06536;AAH06567;AAH30214;ABM84373;ABW03562;BAD92261;BAE06092;BAH13243;CAA71861;EAW57389;EAW57390;EAW57391;EAW57392;EAW57393;NP_004810;Q92797;XP_005259343 Hs.515475 2122377;2132035;5014019;5020740;5024413;5037552;5109281 D1S1425;D5S2354;D8S2279;G29025;L17809;L17877;RH11655 FLJ27092;SPK;SYM OTTHUMP00000196465 APPROVED protein-coding ENSG00000125755 HGNC:22935 09090 602388 REVIEWED 731422 SYN1 synapsin I This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X X p11.23 51626557 51674518 - 47431300 47479256 - 47571901 47619857 - 1580863;6480464;7240710;8554872;8699517 10099709;10358015;10386995;10571231;10578110;10725920;10899172;11431533;11867766;12237306;12438562;12456676;12477932;14673601;14985377;15147519;15217342;15345747;15772651;15822905;15829507;16141272;16169070;17893145;18029348;1905878;1905928;19086053;19301426;19913121;20628086;20700059;20921223;2110562;2118519;21441247;22558309;22571925;22807112;22939629;23190742;23250796;23406870;23818987;24088370;24312498;24591637;2506642;3095840;3118371;8022809;8287627;8430330;8552632;8702879;9395448;9463375;9645429 6853 P17600 ABBA01052379;ABBA01052380;ABBA01052381;ABBA01052382;ABBA01052383;ABBA01052384;ABBA01052385;ABBA01052386;ABBA01052387;AI929645;AL009172;AL833961;AMYH02039288;BC036711;BC048799;CH471164;M55301;M58321;M58341;M58351;M58353;M58359;M58371;M58372;M58373;M58374;M58375;M58376;M58377;M58378;NG_008437;NM_006950;NM_133499 AAA60608;AAC41930;AAC41931;EAW59313;EAW59314;NP_008881;NP_598006;P17600 Hs.225936 1657346;1660337;1678731;1685431;1701858;1772497;1850481;2112856;2112882;2150920;2152062;2183532 AL023622;DXS9873E;DXS9875;GDB:192509;RH79877;RH93525;SGC30176;STS-AA001911;STS-L24038;STS-M13829;STS-M58378;WI-6972 SYN1a;SYN1b;SYNI OTTHUMP00000023229;OTTHUMP00000023230;brain protein 4.1;synapsin 1;synapsin-1 APPROVED protein-coding ENSG00000008056 HGNC:11494 02433 300491;313440 REVIEWED 736160 SYK spleen tyrosine kinase This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 9 9 9 q22 63998674 64095487 + 93564012 93660842 + 90801730 90898560 + 1580863;6480464;6484113;6907045;6218988;8554872 21894146 10022120;10023776;10066823;10072516;10209036;10427990;10449770;10469124;10482988;10540342;10570266;10605028;10617633;10689303;10747947;10748099;10790433;10825200;10862713;10872802;10933389;10940905;10942405;10961871;10963601;10981967;11042121;11046148;11133830;11141335;11162638;11163197;11226282;11262396;11313252;11331248;11356834;11368773;11390470;11418661;11441091;11514608;11536198;11598012;11672534;11676469;11742985;11744621;11782428;11895767;11940607;11964172;11988077;12009018;12051764;12095152;12096713;12209081;12359715;12387735;12393431;12435267;12445683;12447358;12453414;12470302;12477728;12477932;12522270;12682251;12709437;12711606;12771181;12881490;12885943;12907655;1423621;14646171;14699155;14702039;15059510;15059847;15062056;15143214;15144186;15163542;15166239;15188513;15337524;15345594;15388330;15467722;15489334;15507431;15536084;15556646;15557085;15577829;15583006;15670211;1569106;15701717;15707999;15744341;15754322;15795233;15955106;15956283;16085052;16118313;16273093;16288017;16289966;16291755;16322234;16344560;16371508;16449524;16474166;16501050;16640565;16713566;16754322;16849645;16888096;1689310;16921024;16938345;16964403;17070777;17082600;17110603;17130299;17145863;17228323;17346310;17506820;17507237;17675521;17681949;17693136;17721605;17874182;18005690;18006696;18022864;18029348;18052078;18070606;18178826;18189269;18206515;18362147;18401419;18420802;18485118;18564921;18715866;18715989;18803050;18818202;18945214;19018007;19092849;19122653;19150851;19151749;19195024;19236749;19248119;19296913;19297020;19419964;19421152;19435818;19436043;19464057;19477690;19530990;19535334;19549911;19553680;19581935;19738201;19776763;19783684;19800574;19829710;19889729;19893036;19909739;19953087;19965664;1998697;20013945;20014315;20068106;20133729;20154219;20201079;20236696;20368800;20379614;20401456;20439541;20439986;20467426;20528870;20563729;20585042;2065070;20668539;20705591;20956537;21044950;21047529;21067271;21068150;21086786;21171946;21255137;21325831;21334257;21378271;21394647;21438742;21468383;21469132;21482705;21552259;21642504;21693067;21730355;21749309;21807898;21822214;21832049;21833088;21876553;21890473;21908615;21926965;21953500;21981270;22000807;22019427;22025527;22031919;22219177;22219190;22235999;22262777;22267732;22287277;22321643;22336204;22354960;22384232;22456796;22489915;22505724;22541243;22577255;22585575;22623428;22659134;22689578;22693567;22702505;22706086;22707146;22776094;22837212;22844345;22848421;22864779;22880054;22956578;23039362;23071339;23204309;23223229;23242981;23264619;23281368;23293025;23299888;23396081;23396946;23424645;23447535;23480133;23533167;23609194;23609447;23764004;23861534;23917087;23960082;23962979;23994797;24013589;24023253;24076779;24275652;24286216;24313320;24326074;24376268;24376657;24447338;24477596;24489640;24499258;24523870;24525236;24547708;24555683;24564859;24569110;24569586;24583147;24610702;24734927;24779514;24795896;24816145;3198621;3350007;3472906;7477352;7500027;7513017;7513161;7538118;7539035;7592872;7600304;7682059;7721825;7761456;7831290;7895172;8071371;8082894;8163536;8168854;8176201;8189062;8197119;8590001;8617742;8621719;8627166;8629002;8630736;8636079;8657103;8666899;8756631;8798764;8885868;8900182;8986718;9096689;9103201;9104825;9120258;9169439;9218456;9268059;9280292;9295288;9342235;9388490;9389695;9490415;9535867;9590210;9590268;9695951;9698567;9710204;9820500;9830044;9846481;9852052;9857068;9880513;9891087;9891970 6850 A8K4G2;P43405 ABBA01012841;ABBA01012842;ABBA01012843;AJ420449;AK057772;AK075020;AK094808;AK290927;AL354862;AL832053;AMYH02021198;AMYH02021199;BC001645;BC002962;BC011399;BG754228;BM019270;BU429809;BX647192;CH471089;DA587403;DA948098;DB458719;FN391891;FN391892;FN391893;KF458931;L28824;NG_017046;NM_001135052;NM_001174167;NM_001174168;NM_003177;S80267;W33104;X73568;XM_005252147;Z29630 AAA36526;AAB35601;AAH01645;AAH02962;AAH11399;BAF83616;BAG52053;CAA51970;CAA82737;CAY55929;CAY55930;CAY55931;EAW62782;EAW62783;EAW62784;EAW62785;EAW62786;NP_001128524;NP_001167638;NP_001167639;NP_003168;P43405;XP_005252204 Hs.371720 1647138;1676602;1714939;1763053;1779792;1798236;1855043;2122960;2144769;2164483;2186629;5022450;5037552;5491997 D10S275;D8S2279;D9S2062;RH120464;RH48672;RH68079;RH69035;RH91425;SHGC-146795;SHGC-153763;STS-S80267;SYK-1;SYK_1884;WI-18899 DKFZp313N1010;FLJ25043;FLJ37489;p72-Syk OTTHUMP00000021627;OTTHUMP00000021628;OTTHUMP00000021629;OTTHUMP00000021630;tyrosine-protein kinase SYK APPROVED protein-coding ENSG00000165025 HGNC:11491 02514 600085 REVIEWED 736267 SYN2 synapsin II This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014] 3 3 3 p25 11982988 12170949 + 12182150 12233532 + 12004366 12192032 + 1580863;6480464;7240710 10358015;10565545;10571231;10578110;10820264;11032911;11571277;11867766;12477932;14702039;15217342;15271586;15449241;16131404;16712791;16751776;17766091;17913586;18372903;19665806;19913121;20034013;20379614;20628086;21465568;21565611;21906983;22139419;22384280;22571925;22581228;23443540;23492904;23806299;23896626;23956174;2506642;7592648;8430330;8530057;8964517;9430678;9463375 6854 B3KRB3;Q59GM1;Q86VA8;Q92777 AB209088;ABBA01025206;ABBA01025207;ABBA01025208;AC022234;AC026166;AC091492;AF077671;AF077737;AK091286;AK094464;AK295431;AK307469;AMYH02006281;AMYH02006282;AMYH02006283;AMYH02006284;AMYH02006285;BC040661;BC051307;BE504293;CB155277;CH471055;DR002316;HY336790;NG_011728;NM_003178;NM_133625;U40215;X89851;XM_006713311;XM_006713312;XM_006713313 AAC28368;AAC33789;AAC50718;AAH51307;BAD92325;BAG52325;BAG52870;BAG58374;CAA61949;EAW64117;EAW64118;EAW64119;EAW64120;EAW64121;NP_003169;NP_598328;Q92777;XP_006713374;XP_006713375;XP_006713376 Hs.445503 1299906;1643698;1666847;1676336;1688696;1707330;1710958;1730493;1771661;1796948;1851454;2136622;2146122;2147935;2184347;5019931 AF096867;D3S1259;D3S732;G16552;RH66385;RH80633;RH99325;SHGC-14394;SHGC-53473;SHGC-76710;SHGC-76712;SHGC-76716;SHGC-79283;SHGC-84455;TIMP4_1491;WI-19747 SYNII;SYNIIa;SYNIIb OTTHUMP00000222077;OTTHUMP00000222078;synapsin-2 APPROVED protein-coding ENSG00000157152 HGNC:11495 02857 181500;600755 REVIEWED 1346585 SYNC syncoilin, intermediate filament protein This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 1 1 1 p35.1 31414272 31437147 - 33145507 33168361 - 32679906 32702760 - 6480464 11053421;11694502;12477932;16124004;16429158;20199207;20587592;7566098 81493 C9JSS1;C9JTN4;Q9H7C4 AA376455;ABBA01023407;ABBA01023408;AC114489;AI752560;AK024707;AK297958;AK302275;AMYH02000717;BC119700;BC119701;CH471059;DC355889;DC398945;DN991289;NG_012421;NM_001161708;NM_030786 AAI19701;AAI19702;BAB14970;BAG60270;BAG63620;EAX07511;EAX07512;NP_001155180;NP_110413;Q9H7C4 Hs.712631 1770435;2106673;2165629;2173319;2186489;5091589 D1S1793E;RH16653;RH70422;SHGC-57292;SHGC-74547;SYNCOILIN__5360 MGC149625;MGC149626;SYNC1 OTTHUMP00000009760;intermediate filament protein syncoilin;syncoilin;syncoilin intermediate filament 1;syncoilin, intermediate filament 1;syncoilin-1 APPROVED protein-coding HGNC:28897 18134 611750 REVIEWED 1313857 SYNCRIP synaptotagmin binding, cytoplasmic RNA interacting protein This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011] 6 6 6 q14-q15 86744699 86780252 - 86317502 86353568 - 85607784 85643850 - 1580863;6480464 10734137;11051545;11134005;11352648;11574476;11773003;11991638;11994298;12183049;12376575;12388589;12477932;12565831;12601080;12674497;14574404;14702039;15340051;15475564;15479637;15489334;15635413;16196087;16210410;16344560;16765914;17010310;17289661;17332742;17353931;17370265;17643375;18457437;18781797;18794368;18850631;19029303;19060904;19137262;19232660;19471022;19523114;19535251;19738201;19805454;19808571;19808671;20000738;20020773;20085233;20360068;20431927;21139048;21145461;21182205;21715376;21832049;21890473;21906983;21963094;22053931;22145905;22174317;22178446;22268729;22365833;22446626;22586326;22623428;22751105;22797925;22863883;22939629;23000965;23125841;23151878;23184937;23246001;23254330;23455924;23463506;23679954;23980891;24244333;24332808;24457600;24583282;24654937;24816145;25015289;25027693;8125298;9341187;9731529;9847309 10492 B7Z645;F6UXX1;H0YAA0;O60506;Q59GL1 AA411631;AB209098;ABBA01040477;AF037448;AF155568;AK056188;AK222776;AK294212;AK299796;AK313572;AL136082;AMYH02014038;AY034481;AY034482;AY034483;BC009176;BC015575;BC021932;BC024283;BC032643;BC040844;BF221524;CH471051;CV806885;DA117533;DA845413;DB160837;NG_031848;NM_001159673;NM_001159674;NM_001159675;NM_001159676;NM_001159677;NM_001253771;NM_006372;XM_005248635;XM_005248636;XM_005248637 AAC12926;AAD38198;AAH15575;AAH24283;AAH32643;AAH40844;AAK59703;AAK59704;AAK59705;ADZ16027;BAD92335;BAD96496;BAG36345;BAH11699;BAH13131;EAW48622;EAW48623;EAW48624;EAW48625;EAW48626;EAW48627;EAW48628;EAW48629;EAW48630;NP_001153145;NP_001153146;NP_001153147;NP_001153148;NP_001153149;NP_001240700;NP_006363;O60506;XP_005248692;XP_005248693;XP_005248694 Hs.571177 1648783;1649076;1666364;1690714;1775466;1788448;2116339;5493921 HUM000S437;RH16146;RH78135;RH78560;RH92122;SGC32670;Syncrip;fj44g04.x1 FLJ31626;GRY-RBP;GRYRBP;HNRNPQ;HNRPQ1;NSAP1;PP68;dJ3J17.2;hnRNP-Q NS1-associated protein 1;OTTHUMP00000016815;OTTHUMP00000016816;glycine- and tyrosine-rich RNA-binding protein;heterogeneous nuclear ribonucleoprotein Q;hnRNP Q;synaptotagmin-binding, cytoplasmic RNA-interacting protein APPROVED protein-coding ENSG00000135316 HGNC:16918 06734 REVIEWED 1321842 SYNDIG1 synapse differentiation inducing 1 This gene encodes a protein that belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses. [provided by RefSeq, Jul 2013] 20 20 20 p11.21 24524151 24721487 + 24449835 24647253 + 24469199 24666617 + 6480464;8554872 11780052;12477932;14702039;15489334;16169070;16344560;17207965;20152115;20379614;22363774 79953 Q9H7V2 ABBA01048734;ABBA01048735;ABBA01048736;ABBA01048737;AK024282;AL034426;AL049594;AL157413;AMYH02036841;AMYH02036842;AX883820;BC030637;CH471133;CR457325;DB306704;NM_024893;XM_006723626;XM_006723627;XM_006723628 AAH30637;ADQ31894;BAB14872;CAE92125;CAG33606;EAX10117;NP_079169;Q9H7V2;XP_006723689;XP_006723690;XP_006723691 Hs.124638 1334626;1337428;1672434;1687021;1724631;1755985;1775333;1846822;2134181;2168414;2180517;2184578;2187785 D20S1035;D20S462;D20S486;D20S558E;D20S754;D20S844;D20S954;G69455;RH121314;RH48635;RH98971;SHGC-142801;STS-AA019613 C20orf39;DSPC2;FLJ14220;IFITMD5;TMEM90B OTTHUMP00000030461;dispanin subfamily C member 2;interferon induced transmembrane protein domain containing 5;synapse differentiation induced gene 1;synapse differentiation-inducing gene protein 1;transmembrane protein 90B APPROVED protein-coding ENSG00000101463 HGNC:15885 12766 614311 REVIEWED 1602232 SYNDIG1L synapse differentiation inducing 1-like FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred) 14 14 14 q24.3 54909910 54930122 - 74872596 74892805 - 74405893 74426102 - 12477932;14702039;16344560;16359841;22363774 646658 A6NDD5;G3V402 ABBA01030718;ABBA01030719;AC005479;AK094873;AMYH02029517;BC045804;CK906042;DB173128;DB473943;NM_001105579 A6NDD5;NP_001099049 Hs.12400 1736426;1740677;2126086;2158041;2172029 A004W22;D14S1262;D14S687E;G38084;WI-14279 DSPC1;IFITMD4;TMEM90A CAPUCIN;OTTHUMP00000245449;caudate- and putamen-enriched sequence;caudate-and putamen-enriched sequence;dispanin subfamily C member 1;interferon induced transmembrane protein domain containing 4;synapse differentiation-inducing gene protein 1-like;transmembrane protein 90A APPROVED protein-coding ENSG00000183379 HGNC:32388 609999 VALIDATED 1348942 SYNE1 spectrin repeat containing, nuclear envelope 1 This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 6 6 6 q25 153176558 153692233 - 152442819 152958534 - 152121684 152637399 - 1580863;6480464;7240710;8554872;8699517 10574462;10878022;11214970;11792814;11801724;12163176;12168954;12358155;12408964;12477932;12808039;12812986;12958361;14574404;14702039;14709720;15093733;16079285;16875688;17043677;17081983;17159980;17203973;17462627;17503513;17761684;17903302;18029348;18396275;18649358;18709643;18711365;18726349;18827015;19542096;19944109;20056644;20108321;20201924;20301468;20301553;20351715;20360068;20379614;20655839;20682791;20811636;20936779;21139048;21738484;21926972;22565781;22632968;22728879;22768332;22810585;23325900;23453885;23959263;24387768;24457600;24862572;9872452 23345 E7ENN3;E9PEL9;F5GXQ8;F5GYQ7;F5GZ83;F5H422;F5H4Q0;F5H6R8;F8WAI0;H0Y325;H0Y326;H0Y4C0;H0YFT4;H0YGD3;Q5JV20;Q8NF91 AB018339;AB033088;AB051543;ABBA01025616;ABBA01025617;ABBA01025618;ABBA01025619;ABBA01025620;ABBA01025621;ABBA01025622;ABBA01025623;ABBA01025624;ABBA01025625;ABBA01025626;ABBA01025627;ABBA01025628;ABBA01025629;AF043290;AF444779;AF495910;AF535142;AK055440;AK056122;AK057959;AK091651;AK094094;AK122691;AK123135;AK127076;AK304825;AK308717;AK310977;AK316101;AL049548;AL078582;AL136079;AL138832;AL357081;AL450401;AL589963;AL591507;AL713682;AL833542;AL833657;AMYH02014733;AMYH02014734;AMYH02014735;AMYH02014736;AMYH02014737;AMYH02014738;AMYH02014739;AMYH02014740;AMYH02014741;AMYH02014742;AY061755;AY061756;AY135172;AY183142;AY184203;AY184206;BC028616;BC039121;BC090927;BC150289;BK000543;BX537517;BX537837;BX647837;CH471051;CR933676;FM162565;JQ740783;JQ740784;JQ740785;JQ740786;JQ754364;JQ754366;KF458330;NG_012855;NM_033071;NM_182961;XM_006715407;XM_006715408;XM_006715409;XM_006715410;XM_006715411;XM_006715412;XM_006715413;XM_006715414;XM_006715415;XM_006715416;XM_006715417;XM_006715418;XM_006715419;XM_006715420;XM_006715421;XM_006715422;XM_006715423;XM_006715424;XM_006715425 AAC02992;AAH39121;AAH90927;AAI50290;AAL33798;AAL33799;AAL38031;AAM95335;AAN03486;AAN60442;AAO23669;AAO27771;AAO27774;AFN44378;AFN44379;AFN44380;AFN44381;AFN44382;AFN44384;BAA34516;BAA86576;BAB21847;BAB71097;BAC04284;BAG53670;BAG65573;BAH14472;CAD28486;CAD97770;CAD97849;CAI45971;CAQ57272;DAA01060;EAW47727;EAW47728;EAW47729;EAW47730;EAW47731;EAW47732;EAW47733;EAW47734;EAW47735;EAW47736;EAW47737;EAW47738;EAW47739;NP_149062;NP_892006;Q8NF91;XP_006715470;XP_006715471;XP_006715472;XP_006715473;XP_006715474;XP_006715475;XP_006715476;XP_006715477;XP_006715478;XP_006715479;XP_006715480;XP_006715481;XP_006715482;XP_006715483;XP_006715484;XP_006715485;XP_006715486;XP_006715487;XP_006715488 Hs.12967 1340697;1647576;1678729;1685199;1693326;1702994;1710076;1710166;1711330;1718109;1718921;1719801;1726293;1730117;1730441;1756147;1756317;1767297;1767299;1779864;1916164;2106675;2121257;2121259;2122928;2130235;2163109;2163111;2164305;2165382;2165912;2181821;2184285;2191031;5014055;5022200;5022588;5022651;5037552;5118576;7185732;7186511;7187041 A001Z10;AL034436;D11S2921;D11S3430;D1S3697;D5S1597E;D6S1063;D6S2420;D6S319E;D6S332;D6S420;D8S2279;DXS1372;G09480;G10555;G19809;G62447;L18426;MARC_13649-13650:1002828252:2;REN28893;RH122669;RH123167;RH123593;RH45909;RH48777;RH66036;RH91883;RH91895;SGC38197;SHGC-142967;SHGC-143301;SHGC-153861;SHGC-36925;SHGC-37103;SHGC-82346;SHGC-83698;SHGC-84919;STS-N23629;STS-Z40975;SYNE1__5361 8B;ARCA1;C6orf98;CPG2;DKFZp781J13156;EDMD4;FLJ30878;FLJ41140;KIAA0796;KIAA1262;KIAA1756;MYNE1;Nesp1;SCAR8;dJ45H2.2 OTTHUMP00000017438;OTTHUMP00000017440;OTTHUMP00000017441;OTTHUMP00000205471;OTTHUMP00000205472;OTTHUMP00000237449;enaptin;myocyte nuclear envelope protein 1;nesprin 1;nesprin-1;nuclear envelope spectrin repeat protein 1;nuclear envelope spectrin repeat-1;synaptic nuclear envelope protein 1;synaptic nuclei expressed gene 1 APPROVED protein-coding ENSG00000131018 HGNC:17089 09762 608441;610743;612998 REVIEWED 6484201 SYNE1-AS1 SYNE1 antisense RNA 1 6 6 q25.2 153435367 153436550 + 152701665 152702848 + 100505475 AL049548;CK821188;CK821189;NG_012855;NR_120501;XR_110190;XR_112928;XR_171606 Hs.571203 1719801 RH123593 APPROVED ncrna HGNC:40793 VALIDATED 1312719 SYNE2 spectrin repeat containing, nuclear envelope 2 The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 14 14 14 q23.2 44377022 44750869 + 64319683 64693167 + 63852965 64226449 + 1580863;6480464;7240710;8554872;8699517 10231032;10878022;11230166;11792814;12118075;12168954;12408964;12477932;12508121;12958361;14702039;15489334;15671068;15790807;15840729;15843432;16079285;16344560;17081983;17462627;17761684;17881656;18029348;18396275;18477613;18827015;19596235;19861416;19933576;20108321;20237496;20379614;20801886;20811636;21139048;21820406;21853274;21900206;22424883;22505724;22544366;22586326;22632968;22768332;22939629;23314748;23707952;23752268;23977161;24080406;24816145;25036637 23224 G3V2Q0;G3V3D4;G3V403;G3V4T3;G3V5D3;G3V5N1;G3V5X4;Q6MZP0;Q86YP9;Q8WXH0 AB023228;ABBA01018343;ABBA01018344;ABBA01018345;ABBA01018346;ABBA01018347;ABBA01018348;ABBA01018349;ABBA01018350;ABBA01018351;AF357236;AF435010;AF435011;AF495911;AI685725;AK001876;AK074055;AK090430;AK095087;AK095241;AK125715;AK127612;AK128631;AK297874;AK298465;AL080133;AL117404;AL162832;AL355094;AL359235;AMYH02029346;AMYH02029347;AMYH02029348;AMYH02029349;AMYH02029350;AMYH02029351;AY061757;AY061758;AY061759;AY184204;AY184205;AY927627;BC036941;BC042134;BC071873;BC154417;BX537642;BX538095;BX640974;BX648234;CH471061;CR749324;DA825926;DB271849;JQ754367;NG_011756;NM_015180;NM_182910;NM_182913;NM_182914;XM_005267454;XM_005267455;XM_005267456;XM_005267457;XM_005267458;XM_005267459;XM_005267460;XM_006720084 AAH42134;AAH71873;AAL33547;AAL33548;AAL33800;AAL33801;AAL33802;AAN60443;AAO27772;AAO27773;AAQ15171;AFN44385;BAA76855;BAB84881;BAC03411;BAC04506;BAG60199;BAG60678;CAB45729;CAB55905;CAD98013;CAE45988;CAH18179;EAW80838;EAW80839;EAW80840;EAW80841;EAW80842;EAW80843;EAW80844;NP_055995;NP_878914;NP_878917;NP_878918;Q8WXH0;XP_005267511;XP_005267512;XP_005267513;XP_005267514;XP_005267515;XP_005267516;XP_005267517;XP_006720147 Hs.745014 1335679;1654204;1662605;1697736;1716535;1720299;1752857;1770990;1847707;1848261;1856354;2109919;2124054;2126729;2131117;2143223;2143619;2166640;2186023;5015881;5016403;5109759;7184420;7185514 A004F18;D14S63;D14S636E;D14S754;G02304;G35494;G35596;G35928;G35954;G35964;G35984;G36157;GDB:335751;RH102390;RH121553;RH123898;RH65918;SHGC-106707;SHGC-33866;SHGC-37484;SHGC-63651;SYNE2_9322 DKFZp434H2235;DKFZp686E01115;DKFZp686H1931;EDMD5;FLJ11014;FLJ43727;FLJ45710;FLJ46790;KIAA1011;NUA;Nesp2;SYNE-2;TROPH NUANCE;OTTHUMP00000179075;OTTHUMP00000245231;OTTHUMP00000245355;OTTHUMP00000245357;OTTHUMP00000245358;nesprin 2;nesprin-2;nuclear envelope spectrin repeat protein 2;nuclear envelope spectrin repeat-2;nucleus and actin connecting element protein;polytrophin;synaptic nuclear envelope protein 2;synaptic nuclei expressed gene 2 APPROVED protein-coding ENSG00000054654 HGNC:17084 09763 608442;612999 REVIEWED 1312072 SYNE3 spectrin repeat containing, nuclear envelope family member 3 ENCODES a protein that exhibits actin filament binding; INVOLVED IN cytoskeletal anchoring at nuclear membrane; cytoskeleton organization; establishment of protein localization to membrane; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; nuclear envelope; SUN-KASH complex; INTERACTS WITH N-acetyl-1,4-benzoquinone imine 14 14 14 q32.13 75939532 75997875 - 95883831 95983000 - 95417494 95516663 - 6480464;8554872 12477932;12508121;14702039;16330710;18396275;18827015;19946888;21937718;23478653;24049095;8889548 161176 G3V533;Q6ZMZ3 ABBA01048603;ABBA01048604;AK098471;AK131436;AL133467;AL138539;AMYH02029797;BC061899;BC146604;BM701154;BX248076;BX342493;BX346277;BX648302;KC877529;NM_152592;XM_005267376;XM_005267377;XM_006720063;XM_006720064;XM_006720065;XM_006720066;XM_006720067 AAH61899;AAI46605;BAC05312;BAD18582;CAD62365;NP_689805;Q6ZMZ3;XP_005267433;XP_005267434;XP_006720126;XP_006720127;XP_006720128;XP_006720129;XP_006720130 Hs.354645 1675752;1727805;1783044 G63168;RH92376;SHGC-144584 C14orf49;FLJ25605;MGC75267;NET53;Nesp3 OTTHUMP00000246622;OTTHUMP00000246623;nesprin-3;nuclear envelope spectrin repeat protein 3 APPROVED protein-coding ENSG00000176438 HGNC:19861 12652 610861 VALIDATED 1602427 SYNE4 spectrin repeat containing, nuclear envelope family member 4 ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN establishment of epithelial cell apical/basal polarity (ortholog); ASSOCIATED WITH Autosomal recessive inheritance (inferred); DEAFNESS, AUTOSOMAL RECESSIVE 76 (inferred); Progressive sensorineural hearing impairment (inferred); FOUND IN integral component of nuclear outer membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; quercetin; cerium trichloride (ortholog) 19 19 19 q13.12 33208182 33213852 - 36494002 36499958 - 36003100 36009056 - 6480464;8699517;7240710;8554872 12477932;14702039;20301607;21900206;23348741 163183 D6RAE3;H0Y9Z1;H9KVA3;Q8N205 ABBA01018777;AC002116;AF038458;AK093764;AMYH02035998;AMYH02035999;BC038360;BC052573;CB241656;NM_001039876;NM_001297735;XM_005258597;XM_005258598;XM_005258599;XM_005258600;XM_005258601;XM_005258602;XM_005258604 AAH52573;BAC04222;NP_001034965;NP_001284664;Q8N205;XP_005258654;XP_005258655;XP_005258656;XP_005258657;XP_005258658;XP_005258659;XP_005258661 Hs.436743 1670380;5022578 D1S1423;RH48333 C19orf46;DFNB76;FLJ36445;Nesp4 OTTHUMP00000045815;OTTHUMP00000219032;OTTHUMP00000219035;deafness, autosomal recessive 76;nesprin-4;nuclear envelope spectrin repeat protein 4 APPROVED protein-coding ENSG00000181392 HGNC:26703 08776 615535;615540 VALIDATED 1353044 SYNGAP1 synaptic Ras GTPase activating protein 1 The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation autosomal dominant type 5 (MRD5). [provided by RefSeq, Dec 2009] 6 6 6 p21.3 34942270 34975892 + 33387847 33421466 + 33420070 33453689 + 1580863;6480464;7240710;7240705;8554872;8699517 22717267 10862698;11278737;11487731;11572484;11782456;12598599;12951199;1374684;14574404;14702039;14970204;15014045;15044063;15146197;15312654;15358237;16344560;18323856;19196676;19483657;19851445;20188038;20531469;20683986;21237447;21480541;22939629;23161826;23708187;24945774;9405464;9581761;9620694 8831 B7ZCA0;Q96PV0 ABBA01038148;ABBA01038149;ABBA01038150;ABBA01038151;AK094225;AK307888;AL021366;AL662799;AL713634;AMYH02013486;AMYH02013487;AMYH02013488;AMYH02013489;BM354009;BX088650;BX282051;CH471081;CN412954;DA057307;NG_016137;NM_006772 AAI48358;CAA16161;CAD28452;EAX03735;EAX03736;EAX03737;EAX03738;NP_006763;Q96PV0 Hs.586264 2108549;5127011 RH36442;SYNGAP1_8862 DKFZp761G1421;KIAA1938;MRD5;RASA1;RASA5 OTTHUMP00000029119;OTTHUMP00000165802;OTTHUMP00000209046;SYNGAP;neuronal RasGAP;ras GTPase-activating protein SynGAP;ras/Rap GTPase-activating protein SynGAP;synaptic Ras GTPase activating protein 1 homolog;synaptic Ras GTPase activating protein, 135kDa;synaptic Ras GTPase-activating protein 1 APPROVED protein-coding ENSG00000197283 HGNC:11497 16018 603384;612621 REVIEWED 736639 SYNGR1 synaptogyrin 1 This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23548079 23583649 + 39745954 39781593 + 39349949 39385588 + 1580863;6480464;8554872 10591208;10595519;11086983;12477932;14732601;15461802;15489334;16215643;16344560;17049558;17081065;19641478;19665806;21139048;21890473;22505724;22675529;23000965;23382691;24390342;9760194 9145 A2A283;B5MCD7;F8WCE4;O43759 AA412350;ABBA01055564;ABBA01055565;AI278583;AJ002303;AJ002304;AJ002305;AK289507;AK295863;AL022326;AMYH02038379;AMYH02038380;AMYH02038381;AW304782;BC000731;BI667990;BT007135;BX501388;CH471095;CR456590;DA337769;NM_004711;NM_145731;NM_145738 AAH00731;AAP35799;BAF82196;BAH12206;CAA05320;CAA05321;CAA05322;CAG30476;CAK54621;CAK54920;EAW60321;EAW60322;EAW60323;EAW60324;NP_004702;NP_663783;NP_663791;O43759 Hs.216226 1655648;1707490;1716673 D22S1047;RH121595;SHGC-84542 MGC1939;MGC:1939 OTTHUMP00000028972;OTTHUMP00000165911;OTTHUMP00000165912;OTTHUMP00000199080;synaptogyrin-1 APPROVED protein-coding ENSG00000100321 HGNC:11498 06800 603925 REVIEWED 732040 SYNGR2 synaptogyrin 2 This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 72761072 72765440 + 76164632 76169009 + 78168551 78172928 + 1580863;6480464 12477932;12975309;15489334;17255364;21139048;21890473;23000965;9446595;9760194 9144 K7EJ35;K7ELD9;K7ELS8;K7ENG9;O43760 ABBA01002941;ABBA01002942;AC021593;AJ002308;AJ002310;AJ002312;AL833010;AMYH02034048;AY358916;BC000407;BC029755;BC105992;BF198109;CH471099;NM_004710;XM_005257792;XM_005257793 AAH00407;AAH29755;AAI05993;AAQ89275;ABM82758;ABM85945;CAA05325;CAA05327;CAH56291;EAW89499;EAW89500;EAW89501;EAW89502;EAW89503;EAW89504;NP_004701;O43760;XP_005257849;XP_005257850 Hs.464210;Hs.708616 1694708;5109281 D1S1425;G43544 MGC102914 cellugyrin;synaptogyrin-2 APPROVED protein-coding ENSG00000108639 HGNC:11499 04891 603926 REVIEWED 1345958 SYNGR2P1 synaptogyrin 2 pseudogene 1 15 15 15 q13.2 7978688 7980332 + 30336643 30338283 + 30044440 30046080 + 9760194 283698 ABBA01010407;AC111152;AC243949;AJ002313;NG_003218 1694708 G43544 SYNGR2P pseudo HGNC:11500 INFERRED 2290517 SYNGR2P2 synaptogyrin 2 pseudogene 2 9 9 9 q21.2 51341944 51343412 - 80764658 80766126 - 78149742 78151210 - 138916 ABBA01033942;AL353705;AMYH02021047;NG_001541 pseudo HGNC:33947 INFERRED 1323444 SYNGR3 synaptogyrin 3 This gene encodes an integral membrane protein. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010] 16 16 16 p13 2252147 2256455 + 2039946 2044276 + 1989945 1994275 + 1580863;6480464 12477932;14755516;15489334;19357284;20224928;21139048;23864651;9760194 9143 H3BNA6;H3BPJ5;H3BQ28;O43761 ABBA01030283;AC005606;AJ002309;AK313894;AMYH02031241;BC009568;BC014087;BG699055;CH471112;NM_004209 AAH09568;AAH14087;ABM83277;ABM86481;BAG36617;CAA05326;EAW85577;NP_004200;O43761 Hs.435277 1650108;1655224;2108551;2172315 D3S3542;RH66376;SHGC-61093;SYNGR3_8904 MGC20003;MGC:20003 OTTHUMP00000158899;synaptogyrin-3 APPROVED protein-coding ENSG00000127561 HGNC:11501 06801 603927 REVIEWED 736491 SYN3 synapsin III This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008] 22 22 22 q12.3 16710711 17256522 - 32908539 33454377 - 32512552 33058391 - 1580863;6480464;8554872 10358015;10578110;10582583;10591208;11840510;11867766;12477932;14732590;15217342;15461802;15489334;15900227;16511335;17366345;17413450;17567994;18583979;18755822;19102774;19766700;19913121;20379614;20385819;20471030;20677014;20881960;21998595;22360420;23768104;9539796 8224 A6ZJ82;O14994;Q17R54;Q4TT46;Q59EX7 AB209684;ABBA01055379;ABBA01055380;ABBA01055381;ABBA01055382;ABBA01055383;ABBA01055384;ABBA01055385;AF046873;AI095028;AK300171;AL021452;AL023282;AL031592;AMYH02038268;AMYH02038269;AMYH02038270;AMYH02038271;AMYH02038272;AMYH02038273;AMYH02038274;BC075065;BC075066;BC117460;BC143874;CH471095;CR456589;DB458758;DQ655947;KF457402;KF457405;KF457406;KF510585;KF510586;KF511438;KF511443;KF511444;NG_029545;NM_001135774;NM_003490;NM_133633;Z69714;Z71183;Z72520;Z72521;Z73495;Z73979;Z75744;Z80902;Z81309;Z82181;Z82246;Z83846;Z98256 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EN79932;REN79933;REN79934;REN79935;REN79936;REN79937;REN79938;REN79939;REN79940;REN79941;REN79942;REN79943;REN79944;REN79945;REN79946;REN79947;REN79948;REN79949;REN79950;REN79951;REN79952;REN79953;REN79954;REN79955;REN79956;REN79957;REN79958;REN79959;REN79960;REN79961;REN79962;REN79963;REN79964;REN79965;REN79966;REN79967;REN79968;REN79969;REN79970;REN79971;REN79972;REN79973;REN79974;REN79975;REN79976;REN79977;REN79978;REN79979;REN79980;REN79981;REN79982;REN79983;REN79984;REN79985;REN79986;REN79987;REN79988;REN79989;REN79990;REN79991;REN79992;REN79993;REN79994;REN79995;REN79996;REN79997;REN79998;REN79999;REN80000;REN80001;REN80002;REN80003;REN80004;REN80005;REN80006;REN80007;REN80008;REN80010;REN80011;REN80012;REN80013;REN80014;REN80015;REN80016;REN80017;REN80018;REN80019;REN80020;REN80021;REN80022;REN80023;REN80024;REN80025;REN80026;REN80027;REN80028;REN80029;REN80030;REN80031;REN80032;REN80033;REN80034;REN80035;REN80036;REN80037;REN80038;REN80039;REN80040;REN80041;REN80042;REN80043;REN80044;REN80045;REN80046;REN80047;REN80048;REN80049;REN80050;REN80051;REN80052;REN80053;REN80054;REN80055;REN80056;REN80057;REN80058;REN80059;REN80060;REN80061;REN80062;REN80063;REN80064;REN80065;REN80066;REN80067;REN80068;REN80069;REN80070;REN80071;REN80072;REN80073;REN80074;REN80075;REN80076;REN80077;REN80078;REN80079;REN80080;REN80081;REN80082;REN80083;REN80084;REN80085;REN80086;REN80087;REN80088;REN80089;REN80090;REN80091;REN80092;REN80093;REN80094;REN80095;REN80096;REN80097;REN80098;REN80099;REN80100;REN80101;REN80102;REN80103;REN80104;REN80105;REN80106;REN80107;REN80108;REN80109;REN80110;REN80111;REN80112;REN80113;REN80114;REN80115;REN80116;REN80117;REN80118;REN80119;REN80120;REN80121;REN80122;REN80123;REN80124;REN80125;REN80126;REN80127;REN80128;REN80129;REN80130;REN80131;REN80132;REN80133;REN80134;REN80135;REN80136;REN80137;REN80138;REN80139;REN80140;REN80141;REN80142;REN80143;REN80144;REN80145;REN80146;REN80147;REN80148;REN80149;REN80150;REN80151;REN80152;REN80153;REN80154;REN80155;REN80156;REN80157;REN80158;REN80159;REN80160;REN80161;REN80162;REN80163;REN80164;REN80165;REN80166;REN80167;REN80168;REN80169;REN80170;REN80171;REN80172;REN80173;REN80174;REN80175;REN80176;REN80177;REN80178;REN80179;REN80180;REN80181;REN80182;REN80183;REN80184;REN80185;REN80186;REN80187;REN80188;REN80189;REN80190;REN80191;REN80192;REN80193;REN80194;REN80195;REN80196;REN80197;REN80198;REN80199;REN80200;REN80201;REN80202;REN80203;REN80204;REN80205;REN80206;REN80207;REN80208;REN80209;REN80210;REN80211;REN80212;REN80213;REN80214;REN80215;REN80216;REN80217;REN80218;REN80219;REN80220;REN80221;REN80222;REN80223;REN80224;REN80225;REN80226;REN80227;REN80228;REN80229;REN80230;REN80231;REN80232;REN80233;REN80234;REN80235;REN80236;REN80237;REN80238;REN80239;REN80240;REN80241;REN80242;REN80243;REN80244;REN80245;REN80246;REN80247;REN80248;REN80249;REN80250;REN80251;REN80252;REN80253;REN80254;REN80255;REN80256;REN80257;REN80258;REN80259;REN80260;REN80261;REN80262;REN80263;REN80264;REN80265;REN80266;REN80267;REN80268;REN80269;REN80270;REN80271;REN80272;REN80273;REN80274;REN80275;REN80276;REN80277;REN80278;REN80279;REN80280;REN80281;REN80282;REN80283;REN80284;REN80285;REN80286;REN80287;REN80288;REN80289;REN80290;REN80291;REN80292;REN80293;REN80294;REN80295;REN80296;REN80297;REN80298;REN80299;REN80300;REN80301;REN80302;REN80303;REN80304;REN80305;REN80306;REN80307;REN80308;REN80309;REN80310;REN80311;REN80312;REN80313;REN80314;REN80315;REN80316;REN80317;REN80318;REN80319;REN80320;REN80321;REN80322;REN80323;REN80324;REN80325;REN80326;REN80327;REN80328;REN80329;REN80330;REN80331;REN80332;REN80333;REN80334;REN80335;REN80336;REN80337;REN80338;REN80339;REN80340;REN80341;REN80342;REN80343;REN80344;REN80345;REN80346;REN80347;REN80348;REN80349;REN80350;REN80351;REN80352;REN80353;REN80354;REN80355;REN80356;REN80357;REN80358;REN80359;REN80360;REN80361;REN80362;REN80363;REN80364;REN80365;REN80366;REN80367;REN80368;REN80369;REN80370;REN80371;REN80372;REN80373;REN80374;REN80375;REN80376;REN80377;REN80378;REN80379;REN80380;REN80381;REN80382;REN80383;REN80384;REN80385;REN80386;REN80387;REN80388;REN80389;REN80390;REN80391;REN80392;REN80393;REN80394;REN80395;REN80396;REN80397;REN80398;REN80399;REN80400;REN80401;REN80402;REN80403;REN80404;REN80405;REN80406;REN80407;REN80408;REN80409;REN80410;REN80411;REN80412;REN80413;REN80414;REN80415;REN80416;REN80417;REN80418;REN80419;REN80420;REN80421;REN80422;REN80423;REN80424;REN80425;REN80426;REN80427;REN80428;REN80429;REN80430;REN80431;REN80432;REN80433;REN80434;REN80435;REN80436;REN80437;REN80438;REN80439;REN80440;REN80441;REN80442;REN80443;REN80444;REN80445;REN80446;REN80447;REN80448;REN80449;REN80450;REN80451;REN80452;REN80453;REN80454;REN80455;REN80456;REN80457;REN80458;REN80459;REN80460;REN80461;REN80462;REN80463;REN80464;REN80465;REN80466;REN80467;REN80468;REN80469;REN80470;REN80471;REN80472;REN80473;REN80474;REN80475;REN80476;REN80477;REN80478;REN80479;REN80480;REN80481;REN80482;REN80483;REN80484;REN80485;REN80486;REN80487;REN80488;REN80489;REN80490;REN80491;REN80492;REN80493;REN80494;REN80495;REN80496;REN80497;REN80498;REN80499;REN80500;REN80501;REN80502;REN80503;REN80504;REN80505;REN80506;REN80507;REN80508;REN80509;REN80510;REN80511;REN80512;REN80513;REN80514;REN80515;REN80516;REN80517;REN80518;REN80519;REN80520;REN80521;REN80522;REN80523;REN80524;REN80525;REN80526;REN80527;REN80528;REN80529;REN80530;REN80531;REN80532;REN80533;RH10;RH118655;RH119811;RH123757;RH27838;RH66613;RH92751;SGC30866;SHGC-106867;SHGC-132838;SHGC-53228;SHGC-82293;STS-T83848;SYN3__5359;TIMP3_1307;WI-17990;stSG602831;stSG602832;stSG602833;stSG602834;stSG602835;stSG602836;stSG602837;stSG602838;stSG602839;stSG602840;stSG602841;stSG602842;stSG602843;stSG602844;stSG602845;stSG602846;stSG602847;stSG602848;stSG602849;stSG602851;stSG602852;stSG602853;stSG602854;stSG602855;stSG602856;stSG602857;stSG602858;stSG602859;stSG602860;stSG602861;stSG602862;stSG602863;stSG602864;stSG602865;stSG602866;stSG602867;stSG602868;stSG602869;stSG602870;stSG602871;stSG602872;stSG602873;stSG602874;stSG602875;stSG602876;stSG602877;stSG602878;stSG602879;stSG602880;stSG602881;stSG602882;stSG602883;stSG602885;stSG602886;stSG602887;stSG602888;stSG602889;stSG602890;stSG602891;stSG602892;stSG602893;stSG602894;stSG602895;stSG602896;stSG602897;stSG602898;stSG602899;stSG602900;stSG602901;stSG602902;stSG602903;stSG602904;stSG602905;stSG602906;stSG602907;stSG602908;stSG602909;stSG602910;stSG602911;stSG602912;stSG602913;stSG602914;stSG602915;stSG602916;stSG602917;stSG602918;stSG602919;stSG602920;stSG602921;stSG602922;stSG602923;stSG602924;stSG602925;stSG602926;stSG602927;stSG602928;stSG602929;stSG602930;stSG602931;stSG602932;stSG602933;stSG602934;stSG602935;stSG602936;stSG602937;stSG602938;stSG602939;stSG602940;stSG602941;stSG602942;stSG602943;stSG602944;stSG602945;stSG602948;stSG602949;stSG602950;stSG602951;stSG602952;stSG602953;stSG602954;stSG602955;stSG602956;stSG602957;stSG602958;stSG602959;stSG602960;stSG602961;stSG602962;stSG602963;stSG602964;stSG602965;stSG602966;stSG602967;stSG602968;stSG602969;stSG602970;stSG602971;stSG602972;stSG602973;stSG602974;stSG602975;stSG602976;stSG602977;stSG602978;stSG602979;stSG602980;stSG602981;stSG602982;stSG602983;stSG602986;stSG602987;stSG602988;stSG602989;stSG602990;stSG602991;stSG602992;stSG602993;stSG602994;stSG602995;stSG602996;stSG602997;stSG602998;stSG602999;stSG603000;stSG603001;stSG603002;stSG603003;stSG603004;stSG603005;stSG603006;stSG603007;stSG603008;stSG603009;stSG603010;stSG603011;stSG603012;stSG603013;stSG603014;stSG603015;stSG603016;stSG603017;stSG603018;stSG603020;stSG603021;stSG603022;stSG603023;stSG603027;stSG603028;stSG603029;stSG603030;stSG603032;stSG603033;stSG603034;stSG603035;stSG603036;stSG603037;stSG603038;stSG603039;stSG603040;stSG603041;stSG603044;stSG603045;stSG603046;stSG603047;stSG603049;stSG603050;stSG603051;stSG603052;stSG603053;stSG603054;stSG603055;stSG603056;stSG603057;stSG603058;stSG603059;stSG603060;stSG603062;stSG603063;stSG603064;stSG603065;stSG603066;stSG603067;stSG603068;stSG603069;stSG603070;stSG603071;stSG603072;stSG603073;stSG603074;stSG603075;stSG603076;stSG603077;stSG603078;stSG603079;stSG603080;stSG603081;stSG603082;stSG603083;stSG603084;stSG603085;stSG603086;stSG603087;stSG603088;stSG603089;stSG603090;stSG603091;stSG603092;stSG603093;stSG603094;stSG603095;stSG603096;stSG603097;stSG603098;stSG603099;stSG603100;stSG603101;stSG603102;stSG603103;stSG603104;stSG603105;stSG603106;stSG603107;stSG603110;stSG603111;stSG603112;stSG603113;stSG603114;stSG603115;stSG603116;stSG603117;stSG603118;stSG603119;stSG603120;stSG603121;stSG603122;stSG603123;stSG603124;stSG603125;stSG603126;stSG603127;stSG603128;stSG603129;stSG603130;stSG603131;stSG603132;stSG603133;stSG603134;stSG603135;stSG603136;stSG603137;stSG603138;stSG603139;stSG603140;stSG603141;stSG603142;stSG603143;stSG603144;stSG603145;stSG603146;stSG603147;stSG603148;stSG603149;stSG603150;stSG603151;stSG603152;stSG603153;stSG603154;stSG603155;stSG603156;stSG603157;stSG603158;stSG603159;stSG603160;stSG603161;stSG603162;stSG603163;stSG603164;stSG603165;stSG603166;stSG603167;stSG603168;stSG603169;stSG603170;stSG603171;stSG603172;stSG603173;stSG603174;stSG603175;stSG603176;stSG603177;stSG603178;stSG603179;stSG603180;stSG603181;stSG603183;stSG603184;stSG603185;stSG603186;stSG603187;stSG603188;stSG603189;stSG603190;stSG603191;stSG603192;stSG603193;stSG603194;stSG603195;stSG603196;stSG603197;stSG603198;stSG603199;stSG603200;stSG603201;stSG603202;stSG603204;stSG603205;stSG603206;stSG603207;stSG603208;stSG603209;stSG603210;stSG603211;stSG603212;stSG603213;stSG603214;stSG603215;stSG603216;stSG603217;stSG603218;stSG603219;stSG603221;stSG603222;stSG603223;stSG603224;stSG603225;stSG603226;stSG603227;stSG603228;stSG603229;stSG603231;stSG603232;stSG603233;stSG603234;stSG603235;stSG603236;stSG603237;stSG603238;stSG603239;stSG603240;stSG603241;stSG603242;stSG603243;stSG603244;stSG603245;stSG603246;stSG603247;stSG603248;stSG603251;stSG603253 OTTHUMP00000028987;cN28H9.2 (synapsin III);synapsin 3;synapsin-3 APPROVED protein-coding ENSG00000185666 HGNC:11496 04083 602705 REVIEWED 1317104 SYNGR4 synaptogyrin 4 This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 45732901 45744878 + 48867559 48879634 + 48364302 48376377 + 1580863;6480464 10708517;12477932;24250222;9760194 23546 M0QXW6;M0QYL0;M0R1Y8;O95473 ABBA01032999;AC011514;AI222412;AJ011733;AMYH02036295;BC106891;BG720827;CH471177;NM_012451;XM_005258693;XM_005258694 AAI06892;CAA09754;EAW52339;NP_036583;O95473;XP_005258750;XP_005258751 Hs.408333 2161658 WI-10353 MGC125805 synaptogyrin-4 APPROVED protein-coding ENSG00000105467 HGNC:11502 10520 608373 REVIEWED 69494 SYNJ2 synaptojanin 2 The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 6 6 6 q25.3 159051752 159169058 + 158402888 158520208 + 157981856 158099176 + 1300048;1580863;6480464;6907045;8554872 10357812;10805734;11084340;11498538;12421765;12456676;12477932;12699622;12805586;14562116;14574404;15090612;15489334;15548694;15778465;16102578;16344560;17474147;17562712;19531213;20360068;20936779;21555518;21890473;21906983;22045296;22213687;22558309;22823124;23076136;23300701;24077433;24816145;9205841;9388224 8871 B4DG94;B4DJU8;E7ER60;H0YEV8;H7BY56;O15056;Q5TA15;X6R647 AB002346;ABBA01021101;ABBA01021102;ABBA01021103;ABBA01021104;ABBA01021105;AF039945;AF086449;AF318616;AK074294;AK294480;AK296242;AK296935;AK309018;AL139330;AL157424;AMYH02014834;AMYH02014835;AY152396;BC042971;BC043277;BX648749;CH471051;DA327619;FB336978;HH768317;NG_029907;NM_001178088;NM_003898;XM_005267197;XM_005267198;XM_005267199;XM_005267200;XM_006715591;XM_006715592;XR_245556 AAD02178;AAG46036;AAH43277;AAN73051;BAA20805;BAG57705;BAG58960;BAG59486;CAR81445;CBX84907;EAW47665;EAW47666;EAW47667;NP_001171559;NP_003889;O15056;XP_005267254;XP_005267255;XP_005267256;XP_005267257;XP_006715654;XP_006715655 Hs.434494 1341478;1669484;2165730;2168604;2219732;5015619;5022322;5024039;5037552;5109663;5118877 D11S2560;D11S3114;D11S3745;D16S325;D6S959;D7S2067E;D8S2279;SHGC-57752;STS-AA025833;STS-F13787;SYNJ2__5364 INPP5H;KIAA0348;MGC44422 OTTHUMP00000017494;inositol phosphate 5'-phosphatase 2;synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2;synaptic inositol-1,4,5-trisphosphate 5-phosphatase 2;synaptojanin-2 APPROVED protein-coding ENSG00000078269 HGNC:11504 10259 609410 REVIEWED 6481129 SYNJ2-IT1 SYNJ2 intronic transcript 1 (non-protein coding) 6 6 158422139 158423415 + 158001107 158002383 + 100874300 ABBA01021105;AL139330;AMYH02014834;BI831676;HG499826;NR_046796 Hs.742238 RP11-266C7.3 ncrna HGNC:41387 PREDICTED 736800 SYNJ2BP synaptojanin 2 binding protein ENCODES a protein that exhibits protein C-terminus binding (inferred); type II activin receptor binding (inferred); INVOLVED IN intracellular distribution of mitochondria (inferred); negative regulation of activin receptor signaling pathway (inferred); positive regulation of activin receptor signaling pathway (inferred); FOUND IN mitochondrion; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; coumestrol 14 14 14 q24.2 50897314 50948137 - 70833213 70883807 - 70366496 70417090 - 1580863;6480464 10357812;10827173;11673475;11696420;11882656;12477932;14702039;15342556;15451561;15489334;18029348;18845145;19349195;20379614;21139048;21832049;21890473;22939629;23000965;23798571;24025447 55333 P57105 ABBA01030812;ABBA01030813;ABBA01030814;AK002133;AK123967;AK311719;AL356804;AMYH02029446;AMYH02029447;AY534623;BC007704;BP195583;BQ775922;CH471061;NM_018373 AAH07704;AAT01566;BAA92098;EAW81032;EAW81033;NP_060843;P57105 Hs.443661;Hs.704691 1659943;1661416;1664389;1681082;1769765;1850496;2219730;5015861;5037552;5092906;5109281;7185938 A009C06;D10S16;D14S1315;D14S682E;D14S841;D1S1425;D8S2279;G32405;G35968;RH93755;SYNJ2BP__5365 ARIP2;FLJ11271;FLJ41973;OMP25 OTTHUMP00000245525;activin receptor interacting protein 5;mitochondrial outer membrane protein 25;synaptojanin-2-binding protein protein-coding ENSG00000213463 HGNC:18955 15455 609411 VALIDATED 7366385 SYNJ2BP-COX16 SYNJ2BP-COX16 readthrough This locus represents naturally occurring read-through transcription between the neighboring SYNJ2BP (synaptojanin 2 binding protein) and COX16 (COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)) genes on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2011] 14 14 q24 70791798 70883807 - 70325081 70417090 - 20967262;21890473;23000965 100529257 ABBA01030812;ABBA01030813;ABBA01030814;ABBA01030815;ABBA01030816;AL356804;AMYH02029446;AMYH02029447;FY210787;FY211163;FY213292;FY213836;NM_001202547;NM_001202548;NM_001202549 NP_001189476;NP_001189477;NP_001189478 Hs.443661;Hs.709581 1855723;2123464;5014051 D8S2278;SHGC-32255;WI-14865 protein-coding HGNC:48350 VALIDATED 69491 SYNJ1 synaptojanin 1 This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 21 21 21 q22.2 19184699 19284009 - 33997269 34100351 - 32628759 32728040 - 1580863;6480464;6484113;6907045;8699517;7240710;8554872 10048485;10373452;10542231;10764144;10773674;10816441;10830953;11082044;11086983;11292345;11443522;12057195;12168954;12477932;12805586;12829691;14704270;15261714;15342556;15821731;16137687;16344560;17158794;18281508;18539136;19531213;21706016;22511594;23115165;23804563;23804577;24052255;24262182;24816145;7982917;8889548;9195986;9238017;9341169;9388224;9428629 8867 B9EGN3;C9J1Z6;C9JFZ1;C9JW66;H7BZ56;H7BZC2;H7C3R5;J3KPK1;J3KQV8;O43426;Q05CZ1 AB020717;ABBA01057320;AF009039;AF009040;AK295706;AK304044;AK307762;AL109818;AMYH02037725;AP000275;AP000276;AP000277;AP000278;AP000279;BC019630;BC067231;BC098395;BC136603;BP350252;CA944966;CH471079;DB071394;DQ421853;FB336896;HH768235;KC877861;KF510544;NG_030017;NM_001160302;NM_001160306;NM_003895;NM_203446;XM_005261076;XM_005261080;XM_005261081;XM_006724058;XM_006724059;XM_006724060;XM_006724061;XM_006724062;XM_006724063 AAC51921;AAC51922;AAH19630;AAH98395;AAI36604;ABD77575;BAA74933;BAG58552;BAG64955;CAR81404;CBX84866;EAX09863;EAX09864;NP_001153774;NP_001153778;NP_003886;NP_982271;O43426;XP_005261133;XP_005261137;XP_005261138;XP_006724121;XP_006724122;XP_006724123;XP_006724124;XP_006724125;XP_006724126 Hs.473632 1652690;1655055;1661094;1730855;1759855;1799026;1799350;1800398;1800494;1800736;1800904;1801366;1801486;1801630;1802174;1802286;1802360;1802598;1802788;1803504;1803820;1804062;1804236;1804882;1805098;1805370;1806694;1807084;1807426;1807886;1808012;1808868;1810244;1810760;1811528;1811616;1811788;1812156;1812564;1812796;1813004;1813308;1815404;1815532;1819008;1819384;1819506;1820268;1820472;1820538;1820596;1821642;1821932;1822168;1823180;1823244;1823404;1824176;1825260;1825508;1825588;1825738;1827388;1829208;1829762;1829876;1829936;1830122;1830610;1831550;1832160;1832452;1832454;1833312;1833466;1833630;1833674;1833742;1835420;1836692;1837080;1838358;1840200;1840378;1840436;1841686;1842106;1843968;1844028;1844376;1844580;1844582;1845744;1845952;1846466;1850193;1850195;2021608;2021610;2021612;2021614;2021616;2021618;2021620;2021622;2021624;2021626;2021628;2021630;2021632;2021634;2021636;2021638;2021640;2021642;2021644;2021646;2021648;2021650;2021652;2021654;2021656;2021658;2021660;2021662;2021664;2021666;2021668;2021670;2021672;2021674;2021676;2021678;2021680;2021682;2021684;2021686;2021688;2021690;2021692;2021694;2021696;2021698;2021700;2021702;2021704;2021706;2021708;2021710;2021712;2021714;2021716;2021718;2021720;2021722;2021724;2021726;2021728;2021730;2021732;2021734;2021736;2021738;2021740;2021742;2021744;2021746;2021748;2021750;2021752;2021754;2021756;2021758;2021760;2021762;2021764;2021766;2021768;2021770;2021772;2021774;2021776;2021778;2021780;2021782;2021784;2021786;2021788;2021790;2021792;2021794;2021796;2021798;2021800;2021802;2021804;2021806;2021808;2021810;2021812;2021814;2021816;2021818;2021820;2021822;2021824;2021826;2021828;2021830;2021832;2021834;2021836;2021838;2021840;2021842;2021844;2021846;2021848;2021850;2021852;2021854;2021856;2021858;2021860;2021862;2021864;2021866;2021868;2021870;2021872;2021874;2021876;2021878;2021880;2021882;2021884;2021886;2021888;2021890;2021892;2021894;2021896;2021898;2021900;2021902;2021904;2021906;2021908;2021910;2021912;2021914;2021916;2021918;2021920;2021922;2021924;2021926;2021928;2021930;2021932;2021934;2021936;2021938;2021940;2021942;2021944;2021946;2021948;2021950;2021952;2021954;2021956;2021958;2021960;2021962;2021964;2021966;2021968;2021970;2021972;2021974;2021976;2021978;2021980;2021982;2021984;2021986;2021988;2021990;2021992;2021994;2021996;2021998;2022000;2022002;2022004;2022006;2022008;2022010;2022012;2022014;2022016;2022018;2022020;2022022;2022024;2022026;2022028;2022030;2022032;2022034;2022036;2022038;2022040;2022042;2022044;2022046;2022048;2022050;2022052;2022054;2022056;2022058;2022060;2022062;2022064;2022066;2022068;2022070;2022072;2022074;2022076;2022078;2022080;2022082;2022084;2022086;2022088;2022090;2022092;2022094;2022096;2022098;2022100;2022102;2022104;2022106;2022108;2022110;2022112;2022114;2022116;2022118;2022120;2022122;2022124;2022126;2022128;2022130;2022132;2022134;2022136;2022138;2022140;2022142;2022144;2022146;2022148;2022150;2022152;2022154;2022156;2022158;2022160;2022162;2022164;2022166;2022168;2022170;2022172;2022174;2022176;2022178;2022180;2022182;2022184;2022186;2022188;2022190;2022192;2022194;2022196;2022198;2022200;2022202;2022204;2022206;2022208;2022210;2022212;2022214;2022216;2022218;2022220;2022222;2022224;2022226;2022228;2022230;2022232;2022234;2022236;2022238;2022240;2022242;2022244;2022246;2022248;2022250;2022252;2022254;2022256;2022258;2022260;2022262;2022264;2022266;2022268;2022270;2022272;2022274;2022276;2022278;2022280;2022282;2022284;2022286;2022288;2022290;2022292;2022294;2022296;2022298;2022300;2022302;2022304;2022306;2022308;2022310;2022312;2022314;2022316;2022318;2022320;2022322;2022324;2022326;2022328;2022330;2022332;2022334;2022336;2022338;2022340;2022342;2022344;2022346;2022348;2022350;2022352;2022354;2022356;2022358;2022360;2022362;2022364;2022366;2022368;2022370;2022372;2022374;2022376;2022378;2022380;2022382;2022384;2022386;2022388;2022390;2022392;2022394;2022396;2022398;2022400;2022402;2022404;2022406;2022408;2022410;2022412;2022414;2022416;2022418;2022420;2022422;2022424;2022426;2022428;2022430;2022432;2022434;2022436;2022438;2022440;2022442;2022444;2022446;2022448;2022450;2022452;2022454;2022456;2022458;2022460;2100076;2100078;2100080;2100082;2100084;2100086;2100088;2100090;2100092;2100094;2100096;2100098;2100100;2100102;2100104;2100106;2100108;2100110;2100112;2100114;2100116;2100118;2100120;2100122;2100124;2100126;2100128;2100130;2100132;2100134;2100136;2100138;2100140;2100142;2100144;2100146;2100148;2100150;2100152;2100154;2100156;2100158;2100160;2100162;2100164;2100166;2100168;2100170;2100172;2100174;2100176;2100178;2100180;2100182;2100184;2100186;2100188;2100190;2100192;2100194;2100196;2100198;2100200;2100202;2100204;2100206;2100208;2100210;2100212;2100214;2100216;2100218;2100220;2100222;2100224;2100226;2143919 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6570;stSG606571;stSG606572;stSG606573;stSG606574;stSG606575;stSG606576;stSG606577;stSG606578;stSG606579;stSG606580;stSG606581;stSG606582;stSG606583;stSG606584;stSG606585;stSG606586;stSG606587;stSG606588;stSG606589;stSG606590;stSG606591;stSG606592;stSG606593;stSG606594;stSG606595;stSG606596;stSG606597;stSG606598;stSG606599;stSG606600;stSG606601;stSG606602;stSG606603;stSG606604;stSG606605;stSG606606;stSG606607;stSG606608;stSG606609;stSG606611;stSG606612;stSG606613;stSG606614;stSG606615;stSG606616;stSG606617;stSG606619;stSG606620;stSG606621;stSG606622;stSG606623 INPP5G;PARK20 OTTHUMP00000067396;OTTHUMP00000067399;inositol 5'-phosphatase (synaptojanin 1);synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1;synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1;synaptojanin-1;synaptojanin-1, polyphosphoinositide phosphatase APPROVED protein-coding ENSG00000159082 HGNC:11503 09182 604297;615530 REVIEWED 1354169 SYNM synemin, intermediate filament protein The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 76064213 76094750 + 99645286 99675800 + 99105080 99135595 + 1580863;6480464;8554872 10748223;11353857;11454237;11683385;11737198;12477932;12669240;12887813;14552890;15318345;15657940;15872089;16476617;16751776;16777071;17081983;17437541;17564317;18028034;18084875;18342854;19853601;20199207;20543860;20573469;21144834;21145461;21906983;21963094;22337773;23594359;8552632;9205841;9736607 23336 C9JIE4;H0YL34;O15061 AB002351;ABBA01020557;AC036108;AC223423;AF359284;AJ310521;AJ310522;AJ697971;AK026420;AL833262;AMYH02031150;AW292788;BC022358;BC063699;BC110066;BC151243;CH471101;DQ581412;NG_008210;NM_015286;NM_145728 AAI10067;AAI51244;AAK57487;BAA20810;CAC83858;CAC83859;CAG27071;EAX02230;EAX02231;EAX02232;NP_056101;NP_663780;O15061 Hs.207106 1661114;1679702;1736486;1794674;1794676;1794678;1794680;1794682;1794684;1794686;1794688;1794690;1794692;1794694;2158023 D15S697E;PMC34549P1;PMC34549P10;PMC34549P11;PMC34549P2;PMC34549P3;PMC34549P4;PMC34549P5;PMC34549P6;PMC34549P7;PMC34549P8;PMC34549P9;RH70301;RH98741;WI-15574 DMN;KIAA0353;SYN desmuslin;synemin;synemin alpha;synemin beta APPROVED protein-coding ENSG00000182253 HGNC:24466 07305 606087 REVIEWED 735343 SYNPO synaptopodin Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM, Mar 2008] 5 5 5 q33.1 146061703 146120135 + 149980642 150038792 + 150601080 150659230 + 6480464;8554872 10470851;11076863;11230166;11256614;12042308;12477932;14702039;15342556;15343382;15489336;15592455;15659229;15841212;16260903;16344560;16381901;16564554;16622418;17081983;17255128;18596123;19531213;19666657;20201926;20630939;20936779;21139048;21655212;21988832;22217474;23000965;24287595;24561195;7566098;8681137;9314539 11346 Q71HJ6;Q8N3V7 AA303936;AB028952;ABBA01026275;AC008453;AC011383;AF499136;AF499137;AF499138;AJ278122;AK091066;AK095279;AK127049;AK290178;AL049298;AL049959;AL831818;AMYH02012462;BC042624;BC113927;BC114512;BC142683;BC146665;BC152538;BP237193;CH471062;DA333058;F30246;NM_001109974;NM_001166208;NM_001166209;NM_007286;XM_005268369;XM_005268370;XM_005268371;XM_006714755;Y11072 AAI42684;AAI46666;AAI52539;AAQ07402;AAQ07403;AAQ07404;BAA82981;BAF82867;BAG54430;CAA71955;CAD38532;CAL37703;CAL38321;EAW61715;EAW61716;NP_001103444;NP_001159680;NP_001159681;NP_009217;Q8N3V7;XP_005268426;XP_005268427;XP_005268428;XP_006714818 Hs.435228 1335587;1339737;1667267;1670744;1706440;1730958;1735452;1740481;1785298;2151269;2152647;2184931;2219734;7183983 D5S1580E;D5S2275E;D5S2457;D5S470;D5S519;D5S640;RH16488;RH47246;SGC34491;SHGC-110298;SHGC-80801;SYNPO__5366;WI-17444 KIAA1029 OTTHUMP00000160556;OTTHUMP00000160557;OTTHUMP00000227738;OTTHUMP00000227739 APPROVED protein-coding ENSG00000171992 HGNC:30672 12179 608155 VALIDATED 1344756 SYNPO2 synaptopodin 2 ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); muscle alpha-actinin binding (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN actin cytoskeleton; focal adhesion; nucleus (ortholog); INTERACTS WITH 17beta-estradiol; 2-methylcholine; all-trans-retinoic acid 4 4 4 q26 117170539 117342715 + 119809996 119982402 + 118850688 119061247 + 1580863;6480464;8554872 11076863;11230166;11256614;11673475;12477932;12637565;12917631;15111326;15489336;16381901;17828378;18371299;19360353;20332099;20554076;20936779;21139048;21643011;22094256;22252522;22915763;23434281;23967269;24005909;24529757;8593614;8889549 171024 B4E258;H0Y9Y3;Q9UMS6 AA043349;ABBA01044695;ABBA01044696;ABBA01044697;ABBA01044698;ABBA01044699;ABBA01044700;ABBA01044701;AC096745;AC107048;AC108030;AF177291;AJ010482;AK000774;AK296962;AK304121;AK307711;AL832031;AL832363;AL833294;AL833547;AMYH02009985;AMYH02009986;AMYH02009987;AV734727;BC136256;BC150629;BX647849;BX648090;CB998857;CR936673;EU481975;FN422000;KF147165;NM_001128933;NM_001128934;NM_001286754;NM_001286755;NM_133477 AAD55264;AAI36257;AAI50630;ACC93875;AGS94404;BAG59506;BAG65020;CAB51856;CAL37726;CAL38729;CAZ66141;NP_001122405;NP_001122406;NP_001273683;NP_001273684;NP_597734;Q9UMS6 Hs.655519 1654088;1654090;1663667;1663669;1670246;1680244;1682864;1682908;1705116;1705818;1715039;1771110;1772697;1775372;2118725;2130647;2136638;2137371;2141932;2149118;2173099;2173629;2175691;2175693;2182589;2182689;2186198;2186200;2186599;5015861;5020948;5022200;5022923;5118444;7185938 A006B40;D10S16;D11S3316;D4S1172;D4S1271;D4S2494E;D4S2499E;D4S2524E;D4S2802;G20686;G33852;G35510;L18426;RH119821;RH41926;RH91250;RH93997;SHGC-24073;SHGC-24076;SHGC-24709;SHGC-24713;SHGC-31993;SHGC-50261;SHGC-50263;SHGC-51065;SHGC-67326;SHGC-67749;SHGC-67759;SHGC-77833;SHGC-79982;SHGC-8563;STS-H16233;WI-11067;ksks245 DKFZp686G051 OTTHUMP00000219830;OTTHUMP00000219831;OTTHUMP00000219832;OTTHUMP00000222246;genethonin 2;genethonin-2;myopodin;synaptopodin-2 protein-coding ENSG00000172403 HGNC:17732 15456 VALIDATED 1348800 SYNPO2L synaptopodin 2-like ENCODES a protein that exhibits actin binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoskeleton (inferred); nucleus (inferred); Z disc (inferred); INTERACTS WITH arsenite(3-); calcitriol; copper(2+) sulfate 10 10 10 q22.2 68690238 68701428 - 75404639 75415832 - 73644881 73656105 - 1580863;6480464;8554872 12477932;14702039;15164054;16344560;16385451;20467438;22544366;8889549 79933 Q9H987;U3KQD0 AA176924;AB188489;ABBA01020316;AC073389;AK022983;AK095931;AK295873;AMYH02023338;BC131776;BC142635;BX502518;CH471083;DA685385;DC391557;NM_001114133;NM_024875;W73753;W92641;XM_005270158;XM_005270159;XM_005270160 AAI31777;AAI42636;BAB14346;BAD37139;BAG53169;BAG58671;EAW54507;EAW54508;NP_001107605;NP_079151;Q9H987;XP_005270215;XP_005270216;XP_005270217 Hs.645273 1339187;1698712;1731068;1731154;1736042;5021872;5022651;5491549;7183408 D10S1313E;D10S188;D10S283;D10S463;D11S2921;MARC_17634-17635:1019143787:1;RH102916;sY3084 FLJ12921 OTTHUMP00000019821;OTTHUMP00000019822;OTTHUMP00000196456;synaptopodin 2-like protein protein-coding ENSG00000166317 HGNC:23532 15457 VALIDATED 6481366 SYNPR-AS1 SYNPR antisense RNA 1 3 3 63409272 63535727 - 63423596 63550051 - 100874016 ABBA01024321;ABBA01024322;AC099056;AC104436;AMYH02006945;BU959256;HG495724;KF457642;NR_046677 Hs.441275 RP11-585O21.1 APPROVED ncrna ENSG00000241359 HGNC:40774 PREDICTED 731737 SYNPR synaptoporin ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); FOUND IN cell junction (inferred); integral component of membrane (inferred); membrane (inferred); INTERACTS WITH valproic acid; ammonium chloride (ortholog); benzo[a]pyrene (ortholog) 3 3 3 p14.2 63280648 63619333 + 63263914 63602597 + 63278238 63616921 + 1580863;6480464 11076863;11230166;12271488;12477932;12740598;12974474;14702039;15489334;15489336;16344560;16381901;20379614;8034131 132204 B3KVD8;C9J0A2;C9J976;F8WDB8;F8WDF9;F8WE43;F8WF23;Q8TBG9 ABBA01024318;ABBA01024319;ABBA01024320;ABBA01024321;ABBA01024322;ABBA01024323;ABBA01024324;AC099056;AC099545;AC104436;AF411860;AK122831;AK293628;AK309017;AK312465;AK315958;AL834457;AMYH02006945;AMYH02006946;BC022518;CH471055;CR936762;DA505318;KF457642;NM_001130003;NM_144642 AAH22518;AAN03681;ACE86519;ACE87198;BAG35372;BAG53750;BAH11552;BAH14329;CAD39117;CAL37973;EAW65413;EAW65414;NP_001123475;NP_653243;Q8TBG9 Hs.648668 1337420;1688420;1706944;1719699;1727587;1749293;1755269;1759155;2117037;2127967;2155735;2177073;7186424 D3S1600;G16601;G63202;RH123538;RH92939;SHGC-110965;SHGC-142164;SHGC-150704;SHGC-77048;SHGC-80966;STS-N35684;WI-15921 DKFZp686G0883;MGC26651;SPO OTTHUMP00000213286;OTTHUMP00000213288;OTTHUMP00000213289;OTTHUMP00000213291;OTTHUMP00000213292;OTTHUMP00000213294;synaptorin protein-coding ENSG00000163630 HGNC:16507 15458 VALIDATED 1348030 SYNRG synergin, gamma This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q12 32697883 32792525 - 35874900 35969544 - 37514797 37609496 - 631945;1580863;6480464;8554872 10477754 10747088;10777571;10814529;12042876;12176391;12477932;12538641;12808037;12858162;12858163;14702039;15302935;15489334;15758025;16162817;16344560;17506864;18815278;20972266;22566498;23000965;23535730;24816145;8889549;9653655 11276 Q9UMZ2 ABBA01001362;ABBA01001363;AC004099;AC091199;AC243585;AF169548;AK025335;AK025700;AK091801;AK126988;AK302821;AK308292;BC084536;BC090930;BC117313;BC143452;BC143476;BC143478;BG120023;CB053470;CH471199;DB085203;KC877651;KC877655;N93929;NM_001163544;NM_001163545;NM_001163546;NM_001163547;NM_007247;NM_080550;NM_198882;XM_005256980;XM_005256981;XM_005256982;XM_005256983;XM_005256985;XM_005256986;XM_005256988;XM_006721652;XM_006721653;XM_006721654;XM_006721655;XM_006725301;XM_006725302;XM_006725303;XM_006725304;XM_006725305;XM_006725306;XM_006725307;XM_006725308;XM_006725309;XM_006725310;XM_006725311 AAD49732;AAH90930;AAI17314;AAI43477;AAI43479;BAG64019;EAW57594;EAW57595;EAW57596;EAW57597;EAW57598;NP_001157016;NP_001157017;NP_001157018;NP_001157019;NP_009178;NP_542117;NP_942583;Q9UMZ2;XP_005257037;XP_005257038;XP_005257039;XP_005257040;XP_005257042;XP_005257043;XP_005257045;XP_006721715;XP_006721716;XP_006721717;XP_006721718;XP_006725364;XP_006725365;XP_006725366;XP_006725367;XP_006725368;XP_006725369;XP_006725370;XP_006725371;XP_006725372;XP_006725373;XP_006725374 Hs.594647 1652127;1659166;1678871;1699698;1709350;1846562;1855823;2107835;2129760;2138422;2147686;2164529;2186033;5015861;5015961;5017170;5020948;5022322;5022450;5024761;5037552;5109281;5109283;7185938 AP1GBP1_9255;Cda1ec02;D10S16;D10S275;D11S2560;D15S1477;D17S2154;D1S1425;D1S1431;D8S2279;G30589;G35510;L29953;NIB35;RH103454;RH36905;RH45104;RH48320;RH48776;RH93949;SHGC-32328;SHGC-57650;SHGC-81677 AP1GBP1;FLJ34482;MGC104959;SYNG AP1 gamma subunit binding protein 1;AP1 subunit gamma-binding protein 1;OTTHUMP00000164162;OTTHUMP00000164163;OTTHUMP00000217674;OTTHUMP00000217675;adaptor-related protein complex 1 gamma subunit-binding protein 1;gamma-synergin;synergin gamma APPROVED protein-coding ENSG00000275066 HGNC:557 06291 607291 REVIEWED 6481391 SYP-AS1 SYP antisense RNA 1 X p11.23 49198839 49202454 + 100873921 ABBA01046133;ABBA01046134;AC232271;AF196779;AI018666;AI806188;AMYH02039323;BX104027;NR_046649 Hs.666661 APPROVED ncrna ENSG00000237341 HGNC:40571 VALIDATED 737494 SYP synaptophysin This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with X-linked mental retardation (XLMR). [provided by RefSeq, Aug 2011] X X X p11.23-p11.22 52607708 52620104 + 49044263 49056661 - 49187812 49200202 - 730100;1580863;6480464;7240710;8554872;8699517 3120152 10541003;10595912;10620806;11426054;11472886;11508360;11786535;12077483;12097487;12107411;12137757;12181340;12403815;12477932;12485399;12492469;12493563;12498786;12575533;12701886;12826904;14702039;15217342;15489334;15694236;16082702;16721760;16807900;16894395;17005904;17207965;17331077;17500595;17724707;17916412;18006193;18662323;18771509;1908157;19377476;19652998;19724850;1975480;20847448;21073671;2163183;22055401;22099865;22210727;22348818;22449227;22843923;23022470;23242284;23292839;23418554;23726717;23763443;24250222;7534299;7553862;8547634;8772779;9112016;9344658;9889259;9930883 6855 B7Z359;F2Z3E1;G5E9A2;H7C4W3;P08247 ABBA01046133;ABBA01046134;AC232271;AF196779;AK094376;AK295524;AK313030;AK315953;AMYH02039323;BC032385;BC064550;BQ637168;CH471224;NG_012532;NM_003179;U93305;X06389 AAB92358;AAH64550;ADQ32566;BAG35863;BAH12095;BAH14324;CAA29686;EAW50684;EAW50685;NP_003170;P08247 Hs.632804 1742947;1853198;2106677;2113218;2142085;2161974;5125682;7186504 DXS1007E;DXS9785;DXS9881E;G15886;GDB:216846;RH18083;SYP__5369 MRX96;MRXSYP OTTHUMP00000032504;OTTHUMP00000216753;OTTHUMP00000216756;major synaptic vesicle protein P38 APPROVED protein-coding ENSG00000102003 HGNC:11506 02435 300802;313475 REVIEWED 1603517 SYPL2 synaptophysin-like 2 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN substantia nigra development; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH formaldehyde; paracetamol; valproic acid 1 1 1 p13.3 108278450 108294108 + 110009100 110024764 + 109466478 109482142 + 6480464;8554872 12477932;12975309;14702039;16344560;16710414;20125088;20383146;21963094;22290180 284612 B4DYR7;Q5VXT5 AB158472;ABBA01068377;AI983207;AK095168;AK131459;AK289513;AK293082;AK301509;AK302566;AL355145;AL356735;AMYH02001711;AY358862;BC110407;BC113102;BC113103;CH471122;DA097637;DB071160;DB291596;DN831287;NM_001040709;XM_005270773 AAI13103;AAI13104;AAQ89221;BAD18604;BAF82202;BAF85771;BAG63018;BAG63829;BAM08466;EAW56384;EAW56385;NP_001035799;Q5VXT5;XP_005270830 Hs.528366 1709834 SHGC-84739 MG29 OTTHUMP00000012638;mitsugumin 29;mitsugumin-29;synaptophysin-like protein 2 protein-coding ENSG00000143028 HGNC:27638 17478 VALIDATED 1346991 SYPL1 synaptophysin-like 1 ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN synaptic transmission (inferred); transport (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH copper(2+) sulfate; disodium selenite; methyl methanesulfonate 7 7 7 q22.3 100536483 100558573 - 105730814 105753093 - 106090368 106112647 - 1580863;6480464 10370136;10636906;12477932;12690205;12853948;14702039;15489334;16344560;17081065;17207965;17255364;1730063;18720419;19056867;21139048;24250222;8034131;8707851;9847074 6856 A4D0R1;C9JYN0;H7C4J8;Q16563 AA969654;ABBA01057931;AC005095;AK128279;AK128299;AK292230;AMYH02016492;BC016835;BC020938;BC061887;BE048753;BG719851;BQ429369;CB989012;CH236947;CH471070;DA780897;NM_006754;NM_182715;S72481;X61382;X68194;XM_006716099 AAB31344;AAD50513;AAH16835;AAH20938;AAH61887;ACE86648;ACE87330;ADQ32552;BAF84919;CAA48276;EAL24401;EAL24402;EAW83379;EAW83380;EAW83381;NP_006745;NP_874384;Q16563;XP_006716162 Hs.80919 1656673;2141753;2165695;5015961;5022450 D10S275;D15S1477;D7S2339;RH17910;STS-H87525 FLJ46439;H-SP1;SYPL OTTHUMP00000212300;OTTHUMP00000212301;OTTHUMP00000212302;pantophysin;synaptophysin-like protein 1 protein-coding ENSG00000008282 HGNC:11507 15459 VALIDATED 1602841 SYS1 Sys1 golgi trafficking protein SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug 2009] 20 20 20 q13.12 40700219 40706369 + 43988660 44005442 + 45361937 45376802 + 6480464;8554872 11181995;12477932;15077113;16303743;16344560;21906983;24250222 90196 E7ETM6;F8WB21;Q5QPU8;Q8N2H4 ABBA01052660;AI041176;AK075264;AK172738;AK309429;AL021578;AL449491;AL591714;AMYH02037150;BC048286;BI820996;CA417429;CH471077;CQ783385;DA526637;H09823;NM_001099791;NM_001197129;NM_033542 AAH48286;ACE86892;ACE87579;BAC11506;CAC39448;CAF86589;EAW75847;EAW75851;EAW75856;EAW75857;NP_001093261;NP_001184058;NP_291020;Q8N2H4 Hs.655055;Hs.733183 1675279;1679299;1772918;1852021;2190969 MARC_12165-12166:1004710367:1;RH18508;RH44476;RH75592;WI-16033 C20orf169;dJ453C12.4;dJ453C12.4.1 OTTHUMP00000031125;OTTHUMP00000031126;OTTHUMP00000031127;OTTHUMP00000031129;OTTHUMP00000210819;SYS1 Golgi-localized integral membrane protein homolog;protein SYS1 homolog APPROVED protein-coding ENSG00000204070 HGNC:16162 612979 VALIDATED 1642399 SYS1-DBNDD2 SYS1-DBNDD2 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription from the neighboring SYS1 Golgi-localized integral membrane protein homolog and dysbindin domain containing 2 (DBNDD2) genes. The read-through transcript includes the majority of exons from each individual gene, but it would be subject to nonsense-mediated mRNA decay (NMD) and is therefore predicted to be non-coding. [provided by RefSeq, Oct 2010] 20 20 20 q13.12 40700358 40747756 + 43991809 44039250 + 45363169 45410610 + 6480464;8554872 11181995;12477932;20967262 767557 F2Z2A3;H3BUS1 ABBA01052660;AL021578;AMYH02037150;BC023562;BI199175;CH471077;DN994280;NR_003189 EAW75855 Hs.730643 1675279;1679299;1772918;1852021;2140419;2140421;2172654;2190969 A002A22;G19851;MARC_12165-12166:1004710367:1;RH18508;RH44476;RH75592;STS-Z40239;WI-16033 C20orf169-DBNDD2 APPROVED ncrna ENSG00000254806 HGNC:33535 VALIDATED 1346254 SYT10 synaptotagmin X ENCODES a protein that exhibits metal ion binding (inferred); protein heterodimerization activity (inferred); protein homodimerization activity (inferred); INVOLVED IN regulation of calcium ion-dependent exocytosis (inferred); transport (inferred); ASSOCIATED WITH Seizures (ortholog); FOUND IN cell junction (inferred); integral component of membrane (inferred); synaptic vesicle (inferred); INTERACTS WITH benzo[a]pyrene; 17beta-estradiol (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 12 12 12 p11.1 13335630 13400035 - 33528348 33592754 - 33375413 33439819 - 6480464;61761;8554872 9122248 10531343;12477932;14756426;15489334;23583979 341359 F5GZB8;Q6XYQ8 ABBA01031691;ABBA01031692;AC016956;AC023158;AMYH02026314;AY198413;BC101024;BC101025;CH471116;NM_198992 AAI01025;AAI01026;AAP37477;EAW88510;NP_945343;Q6XYQ8 Hs.118703 1673679;1725877;1771262;1846968;2106679 D12S1472;D12S1475;G62396;RH45399;SYT10__5370 MGC119436;MGC119437;sytX OTTHUMP00000240621;synaptotagmin 10;synaptotagmin-10 protein-coding HGNC:19266 15460 VALIDATED 1343002 SYT11 synaptotagmin XI This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that are known calcium sensors and mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. The encoded protein is also a substrate for ubiquitin-E3-ligase parkin. The gene has previously been referred to as synaptotagmin XII but has been renamed synaptotagmin XI to be consistent with mouse and rat official nomenclature. [provided by RefSeq, Apr 2010] 1 1 1 q21.2 128902166 128927893 + 155829260 155854990 + 155859469 155885199 + 1580863;6480464;8554872 10734137;11543631;12477932;12925569;14702039;15354386;15489334;16189514;16303743;16344560;17192956;19060904;19156168;21139048;21292315;22645275;23000965;24164654;7584044 23208 B4DK40;Q9BT88 AA824539;ABBA01016682;AK026178;AK027540;AK074931;AK296378;AL139128;AMYH02001956;AU130124;BC004291;BC013690;BC039205;BM801649;CA419920;CH471121;CR749792;D38522;DA026743;DA239014;NM_152280;XM_005245014 AAH04291;AAH13690;AAH39205;BAA07527;BAB55186;BAC11300;BAG59052;CAH18653;EAW53025;EAW53026;NP_689493;Q9BT88;XP_005245071 Hs.32984 1655192;1735360;1735672;1764755;1775384;2163874;2165276;5014063;5015881;5121275 A002N39;D15S1390;D1S1849E;D7S2133E;GDB:335751;IB1251;RH16657;RH25308;RH78173;SHGC-148333 DKFZp781D015;KIAA0080;MGC10881;MGC17226;SYT12 OTTHUMP00000015934;synaptotagmin 12;synaptotagmin-11;sytXI APPROVED protein-coding ENSG00000132718 HGNC:19239 12289 608741 REVIEWED 737534 SYT12 synaptotagmin XII This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.[provided by RefSeq, Apr 2010] 11 11 11 q13.2 64118713 64146930 + 66790190 66818334 + 67021869 67050863 + 1580863;6480464 11543631;12477932;14702039;15489334;16344560;17190793;21926972;21963094 91683 B0AZL9;E9PNM5;Q8IV01;Q8NDM9 ABBA01024050;ABBA01024051;ABBA01024052;AK024280;AK289672;AK289727;AK315810;AL833834;AMYH02024985;AP000729;AP003176;BC037406;CH471076;DA239473;NM_001177880;NM_177963;XM_006718737 AAH37406;ABM83399;ABM86611;BAF82361;BAF82416;BAF98701;CAD38694;EAW74576;NP_001171351;NP_808878;Q8IV01;XP_006718800 Hs.287636 2145053 SGC32272 SRG1;SYT11;sytXII OTTHUMP00000235162;OTTHUMP00000235163;synaptotagmin-12;synaptotagmin-XII APPROVED protein-coding HGNC:18381 07337 606436 REVIEWED 736944 SYT1 synaptotagmin I The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010] 12 12 12 cen-q21 78924230 79512467 + 79257773 79845788 + 78863993 79452008 + 1580863;6480464;7204679;2311146;8554872 11751925;15534041 10397765;10692432;10734137;11181737;11242035;11243866;11381094;11432880;11438518;11438520;11438523;11454741;12062043;12089155;12135982;12477932;12526776;12750892;1326322;14702039;14709554;15082773;15466855;15467731;15489334;15603740;15919756;16143103;16169070;16344560;16525042;17307723;17956130;1840599;18779938;18937294;19186144;19234085;19234194;19284995;19523119;19557857;19835837;19926819;19953087;20098747;20195357;20222955;20379614;21139048;21906983;22360420;22475172;22705946;22853901;22890573;22966849;23071627;23251661;23341457;23607712;23932591;24302762;2446925;7553862;7624059;7798952;8071310;8087843;8769138;8889548;8901523;8999968;9010211;9303303;9712836 6857 C9JX50;F8VXH0;F8VYH8;F8VZY3;F8W1U9;J3KQA0;P21579 ABBA01053507;ABBA01053508;ABBA01053509;ABBA01053510;ABBA01053511;ABBA01053512;ABBA01053513;ABBA01053514;ABBA01053515;ABBA01053516;AC027288;AC073570;AC073572;AC073606;AC073616;AC078917;AC090709;AK094616;AK126908;AK308743;AMYH02026804;AMYH02026805;AMYH02026806;AMYH02026807;AMYH02026808;AMYH02026809;AMYH02026810;AMYH02026811;BC041373;BC051915;BC058917;BM668697;BM671335;BX647240;CH471054;CR627387;CS667539;DA174824;DA206209;KF455679;M55047;NM_001135805;NM_001135806;NM_001291901;NM_005639;U19921;XM_005269113;XM_006719576 AAA60609;AAH58917;BAG52897;BAG54392;CAH10483;CAP07393;EAW97343;EAW97344;EAW97345;NP_001129277;NP_001129278;NP_001278830;NP_005630;P21579;XP_005269170;XP_006719639 Hs.310545 1338161;1647506;1649248;1658087;1660637;1664672;1666962;1670426;1673782;1710274;1710636;1711026;1712539;1744019;1749201;1749795;1749821;1769269;1782698;1789172;1796900;1854883;2121219;2125134;2129481;2131318;2154954;2163710;2175365;2177322;2186421 A002S37;D12F314S2;D12S1421;D12S1846;D12S2204;D12S64;D37792;G09678;G31550;G65584;GDB:384848;RH17699;RH44236;RH47304;RH47944;RH78549;SHGC-110880;SHGC-111536;SHGC-111560;SHGC-155197;SHGC-30056;SHGC-31058;SHGC-31415;SHGC-59569;SHGC-84114;SHGC-84895;SHGC-85231;STS-AA040166;SYT1_862;WI-17968;WI-22639 DKFZp781D2042;P65;SVP65;SYT;sytI OTTHUMP00000166063;OTTHUMP00000166064;OTTHUMP00000242738;OTTHUMP00000242743;synaptotagmin 1;synaptotagmin-1 APPROVED protein-coding ENSG00000067715 HGNC:11509 01710 185605 VALIDATED 735243 SYT13 synaptotagmin XIII This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 11 11 11 p12-p11 45409536 45455569 - 45261853 45307884 - 45240299 45286333 - 6480464 10718198;11076863;11171101;11230166;11256614;11543631;12477932;15342556;15489334;15489336;16381901;18202767;20379614;20840848;22632162;8889549 57586 H0YD47;H0YE47;Q7L8C5 AB037848;ABBA01060762;AC103681;AC103736;AJ303362;AK291009;AK308841;AL512743;AMYH02024692;BC093830;BC093832;BP251101;CH471064;NM_001247987;NM_020826;W45345;XM_006718267 AAH93830;AAH93832;BAA92665;BAF83698;CAC21669;CAC33884;CAL38161;EAW68043;EAW68044;NP_001234916;NP_065877;Q7L8C5;XP_006718330 Hs.436643 1663783;1663785;1737247;2174907 D11S3115;HSC1SF092;RH18313;WI-14707 KIAA1427 OTTHUMP00000233113;synaptotagmin 13;synaptotagmin-13;sytXIII APPROVED protein-coding ENSG00000019505 HGNC:14962 12128 607716 REVIEWED 1604910 SYT14P1 synaptotagmin XIV pseudogene 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH pirinixic acid (ortholog) 4 4 4 q13.2 66388633 66391320 - 68926328 68929015 - 68060610 68063297 - 6480464;8554872 11543631;12477932;14702039;15238157;16376304;23999003 401135 Q58G82 ABBA01022908;AC096727;AJ303368;AMYH02009382;AY954513;BC132697;BC144378;CH471057;CR740599;NR_027094 AAX40990;CAC33890;EAX05567;Q58G82 Hs.130270;Hs.712109 CHR415SYT;SYT14L SYTDEP APPROVED pseudo HGNC:33429 18501 610892 VALIDATED 1345341 SYT14 synaptotagmin XIV This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011] 1 1 1 q32.2 183335212 183561024 + 210111519 210337636 + 209938174 210164291 + 1580863;6480464;8699517;8554872;7240710 12477932;12801916;14702039;15238157;16710414;17304550;20379614;21835308;22527681;24275721 255928 A1L3Y1;F5H1A2;Q8NB59 AB102948;ABBA01048207;ABBA01048208;ABBA01048209;AJ617623;AJ617624;AJ617625;AJ617626;AJ617627;AK091517;AL022397;AL022399;AL513263;AMYH02002604;BC130323;BC144154;BC144155;BC144157;CH471100;NG_031962;NM_001146261;NM_001146262;NM_001146264;NM_001256006;NM_153262;NR_027459;XM_005273088;XM_006711262;XM_006711263;XM_006711264 AAI30324;ADR83228;BAC03682;BAC76809;CAE85109;CAE85110;CAE85111;CAE85112;CAE85113;CAI17884;CAI17885;CAI17886;EAW93434;EAW93435;NP_001139733;NP_001139734;NP_001139736;NP_001242935;NP_694994;Q8NB59;XP_005273145;XP_006711325;XP_006711326;XP_006711327 Hs.658866 1339667;1647602;1650266;1670387;1693090;1697312;2121096;5015087;5110301;7183767 AL009619;AL009780;AL009797;AL034255;D1S205;RH102153;SHGC-152644;SHGC-31163;yAS8L FLJ34198;MGC163195;SCAR11 OTTHUMP00000034817;OTTHUMP00000034819;OTTHUMP00000035026;synaptotagmin-14;sytXIV APPROVED protein-coding ENSG00000143469 HGNC:23143 11617 610949;614229 REVIEWED 736926 SYT15 synaptotagmin XV This gene encodes a member of the Synaptotagmin (Syt) family of membrane trafficking proteins. Members of this family contain a transmembrane region and a C-terminal-type tandem C2 domain. Unlike related family members, the encoded protein may be involved in membrane trafficking in non-neuronal tissues. Two trancript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q11.1 212 3344 + 46955444 46971400 - 46578627 46594173 + 6480464;8554872 11543631;11739399;12477932;12788067;14702039;16344560;19322201 83849 D6RF99;H3BLX3;Q9BQS2;X6R8R1 AA878734;AB109022;AB109023;ABBA01204536;AC245163;AI971263;AJ303363;AK127436;AK128634;AK131036;AK290186;AK293632;AL356056;BC139914;BG402134;CH471083;DB158555;NM_031912;NM_181519;XM_005277661;XM_005277663;XM_006718007;XM_006718008;XM_006718009;XM_006718010;XM_006718011;XM_006718012;XR_428721;XR_428722 AAI39915;BAC76817;BAC76818;BAC85479;BAC86979;BAF82875;BAG57088;CAC33885;EAW54662;NP_114118;NP_852660;Q9BQS2;XP_005277718;XP_005277720;XP_006718070;XP_006718071;XP_006718072;XP_006718073;XP_006718074;XP_006718075 Hs.696346 1679469;1698412;2132809;5015619;5015881;5037552;5118444 D11S3114;D11S3316;D8S2279;GDB:335751;RH102748;RH79784;SHGC-36518 CHR10SYT;sytXV OTTHUMP00000058992;OTTHUMP00000221137;OTTHUMP00000221138;chr10 synaptotagmin;synaptotagmin XV-a;synaptotagmin-15 APPROVED protein-coding ENSG00000204176 HGNC:17167 12161 608081 REVIEWED 734045 SYT17 synaptotagmin XVII ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN exocytosis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane (inferred); synaptic vesicle (inferred); trans-Golgi network (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; coumestrol 16 16 16 p12.3 18327505 18426429 + 19179541 19279656 + 19168219 19268334 + 6480464;8554872 10493829;12107410;12477932;16189514;16672768;16713569;16730941;20379614;21832049;21876473 51760 H3BMD4;H3BN78;H3BQZ6;H3BRH9;H3BSP0;H3BSU5;H3BSX1;Q9BSW7 ABBA01028256;AC003003;AC010494;AF220560;AK098747;AK226136;AK296000;AMYH02031638;AMYH02031639;AMYH02031640;AMYH02031641;BC004518;BQ548827;BQ961069;CA389452;CH471186;KF456169;NM_016524;XM_005255361;XM_005255362;XM_006721053 AAC05436;AAF37825;AAH04518;BAG58774;EAW50273;EAW50274;NP_057608;Q9BSW7;XP_005255418;XP_005255419;XP_006721116 Hs.258326 1689620;1738491;1739877 D16S2687;D16S3007;RH64994 B/K protein;OTTHUMP00000162165;protein B/K;synaptotagmin-17;sytXVII protein-coding HGNC:24119 17425 VALIDATED 1346455 SYT16 synaptotagmin XVI INVOLVED IN exocytosis (inferred); INTERACTS WITH progesterone; 3,4-methylenedioxymethamphetamine (ortholog); benzo[a]pyrene (ortholog) 14 14 14 q23.2 42513014 42618887 + 62331567 62573915 + 61970235 62101709 + 737633;6480464 12477932 11543631;12801916;15238157;15489334;16946482;20379614;20707712;24478790 83851 B4DZH2;Q17RD7 AB102949;ABBA01018304;ABBA01018305;ABBA01018306;AJ303367;AJ617628;AK302919;AL356018;AL390816;AMYH02029319;BC040924;BC117363;BC143598;CH471061;NM_031914;XM_005268124;XM_006720272;XM_006720273 AAH40924;AAI17364;AAI43599;ADR83098;BAC76810;BAG64084;CAC33889;CAE85114;EAW80812;EAW80813;EAW80814;NP_114120;Q17RD7;XP_005268181;XP_006720335;XP_006720336 Hs.404139 1716025;1783098;1853844;2121096;2141113;5037746 D14S578;D1S3696;RH120951;SHGC-155175;SHGC-31163;WI-18435 CHR14SYT;SYT14L;Strep14;syt14r;yt14r OTTHUMP00000245106;chr14 synaptotagmin;synaptotagmin 14-like protein;synaptotagmin XIV-related protein;synaptotagmin-16 protein-coding HGNC:23142 15461 610950 VALIDATED 735278 SYT2 synaptotagmin II Synaptotagmins, like SYT2, are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis (Hilbush and Morgan, 1994 [PubMed 8058779]).[supplied by OMIM, Mar 2008] 1 1 1 q32.1 175686865 175807438 - 202559724 202679551 - 202590596 202710423 - 1580863;6480464;8554872 10330444;10734137;10952998;11381094;11696368;12063179;12477932;14702039;14709554;15350218;15489334;16344560;17500595;18029348;18639519;19234085;19234194;19709630;21139048;22265973;22454523;23936387;2446925;7749232;7961887;8058779;8901523 127833 Q8N9I0 ABBA01027497;ABBA01027498;ABBA01027499;ABBA01027500;AC104463;AC118556;AK090672;AK094430;AK124510;AMYH02002500;AMYH02002501;AMYH02002502;BC100814;BC100815;BC100816;BC100817;CH471067;DA098279;NM_001136504;NM_177402 AAI00815;AAI00816;AAI00817;AAI00818;BAC03500;BAC04354;EAW91429;EAW91430;NP_001129976;NP_796376;Q8N9I0 Hs.25422 1337558;1338060;1339836;1671675;1774231;2106681;2124071;2130769;2177771;2179093;2179503 A002T08;A008L47;AL009837;D1S1724;D1S1804E;D1S2654;D1S2655;D1S2686;D1S3420;NIB1035;SYT2__5372 FLJ42519;MYSPC;SytII OTTHUMP00000038803;OTTHUMP00000038804;synaptotagmin 2;synaptotagmin-2 APPROVED protein-coding ENSG00000143858 HGNC:11510 02520 600104;616040 VALIDATED 736653 SYT3 synaptotagmin III ENCODES a protein that exhibits calcium-dependent phospholipid binding (inferred); clathrin binding (inferred); metal ion binding (inferred); INVOLVED IN calcium ion-dependent exocytosis (inferred); positive regulation of vesicle fusion (inferred); response to calcium ion (inferred); FOUND IN endosome; INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 q13.33 48176610 48194391 - 51125234 51143092 - 50621977 50658044 - 1580863;6480464 10531343;10692432;10734137;11076863;11230166;11256614;11543631;12477932;12526776;15489334;15489336;16381901;7749232;7791877;8889548 84258 M0QY70;M0QYH4;Q9BQG1 ABBA01068310;AC008743;AL136594;AMYH02036360;BC028379;BC031067;BI912995;BM688060;BM710834;CH471135;NM_001160328;NM_001160329;NM_032298;XM_006723415;XM_006723416 AAH28379;AAH31067;ABM82177;ABM85363;CAB66529;CAL38399;EAW71887;EAW71888;EAW71889;EAW71890;EAW71891;NP_001153800;NP_001153801;NP_115674;Q9BQG1;XP_006723478;XP_006723479 Hs.515554 DKFZp761O132;SytIII synaptotagmin 3;synaptotagmin-3 protein-coding ENSG00000213023 HGNC:11511 08977 600327 VALIDATED 68582 SYT4 synaptotagmin IV ENCODES a protein that exhibits calcium ion binding (inferred); clathrin binding (inferred); phosphatidylserine binding (inferred); INVOLVED IN exocytosis (inferred); negative regulation of calcium ion-dependent exocytosis (inferred); negative regulation of vesicle fusion (inferred); ASSOCIATED WITH Seizures (ortholog); FOUND IN cell junction (inferred); dense core granule (inferred); integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; atrazine; dioxygen 18 18 18 q12.3 37656042 37665799 - 40847857 40857615 - 43267892 43277650 - 730127;1580863;6480464;7204679;8554872 15534041;8872307 10397765;10718198;10734137;10938284;12477932;15489334;16189514;19156168;21315262;21738487;22082156;7993622;8058779;8901523 6860 M0QZF3;M0R2I0;Q9H2B2 AB037763;ABBA01022356;AC091039;AF299075;AI912792;AK291154;AK293791;AK297275;AK297379;AK299593;AK299652;AK311335;AMYH02034616;BC036538;BM311221;CH471088;DB483932;NM_020783 AAG37229;AAH36538;ABW03669;BAA92580;BAF83843;BAG57204;BAG59747;BAG59821;BAG61525;BAG61571;EAX01433;EAX01434;NP_065834;Q9H2B2 Hs.8059 1770303;1770540;2149948 HSC1XA022;RH12546;SGC36952 HsT1192;KIAA1342 OTTHUMP00000163444;synaptotagmin 4;synaptotagmin-4;sytIV protein-coding ENSG00000132872 HGNC:11512 02519 600103 VALIDATED 731962 SYT5 synaptotagmin V Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011] 19 19 19 q13.42 52725663 52732913 - 55682571 55691809 - 55173098 55180441 - 1580863;6480464 10531343;10556508;10734137;12477932;14702039;15489334;15820774;16169070;16344560;18029348;20471030;21900206;22102235;7597049;8901523;9177789 6861 B7Z300;K7EJ95;K7EJC4;K7EJS7;K7EQ59;M0QYJ7;O00445;Q4FD32 ABBA01068119;AC010327;AK125182;AK295337;AK313067;AMYH02036455;BC029962;BC033683;BC046157;BM311004;BQ417474;CH471135;DA529870;DB170891;DQ090951;NM_001297774;NM_003180;X96783;XM_006723338;XM_006723339;XM_006723340;XM_006723341;XM_006723342;Y19236 AAH33683;AAH46157;AAY99640;BAG54160;BAH12036;CAA65579;EAW72345;EAW72346;EAW72347;NP_001284703;NP_003171;O00445;XP_006723401;XP_006723402;XP_006723403;XP_006723404;XP_006723405 Hs.631566 1774567;2136923;2154822 D19S1081;RH18176;STS-D15049 sytV synaptotagmin 5;synaptotagmin-5 APPROVED protein-coding HGNC:11513 02870 600782 VALIDATED 736086 SYT7 synaptotagmin VII This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 11 11 11 q12-q13.1 58618148 58683697 - 61281188 61348523 - 61513716 61581051 - 1580863;2311143;2311148;6480464;7204679 15534041;17709608;18713958 10556508;10613842;10734137;11342594;12071850;12477932;12526776;19913121;20628086;21266332;22966849;7791877;8889548;8901523;9615227 9066 F5GX00;F5GZC2;F5H126;F5H1N2;F5H6C1;F5H8G7;O43581 ABBA01003201;ABBA01003202;AF038535;AK294636;AL137559;AMYH02024880;AP002754;AP003108;AP003559;BC042495;BC125170;BC125171;BE644642;BM675410;BM679451;BQ447018;CA868518;CH471076;NM_001252065;NM_001300773;NM_004200;XM_005274383;XM_005274384;XM_005274385;XM_005274386;XM_005274387;XM_005274388;XM_005274389;XM_005274390;XM_006718736;Y19237;Y19238;Y19239;Y19240 AAB92667;AAI25171;BAG57815;EAW73953;EAW73954;EAW73955;EAW73956;EAW73957;NP_001238994;NP_001287702;NP_004191;O43581;XP_005274440;XP_005274441;XP_005274442;XP_005274443;XP_005274444;XP_005274445;XP_005274446;XP_005274447;XP_006718799 Hs.131188;Hs.684589 1644465;1648819;1737169;2108553;2111354;2115161;2154361;5014896 A007K14;D11S2224E;D11S2270E;D11S3034;D11S4425;RH47105;STS-R71085;SYT7_8889 IPCA-7;IPCA7;MGC150517;PCANAP7;SYT-VII;SYTVII OTTHUMP00000238266;OTTHUMP00000238267;OTTHUMP00000238270;OTTHUMP00000238271;OTTHUMP00000238272;OTTHUMP00000238273;prostate cancer associated protein 7;prostate cancer-associated protein 7;synaptotagmin 7;synaptotagmin-7 APPROVED protein-coding HGNC:11514 11965 604146 REVIEWED 737166 SYT6 synaptotagmin VI The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 1 p13.2 112861141 112925712 - 114631914 114696472 - 114089292 114153850 - 6480464 10531343;11437455;11543631;12477932;14702039;16111671;16344560;16710414;17207965;18639284;20551332;21832049;23251661;23319801;23942779;7791877;8901523 148281 B1AMB6;B1AMB7;I6L9C3;Q5T7P8;V9GY33;V9GYB1;V9GYC4;V9GYY7 ABBA01068459;ABBA01068460;AK056448;AK096744;AL162594;AMYH02001780;BC044948;BX431128;CH471122;DA306591;N50928;NM_001270805;NM_205848;XM_006710376 AAH44948;ADQ33072;BAG51713;EAW56596;EAW56597;EAW56598;NP_001257734;NP_995320;Q5T7P8;XP_006710439 Hs.370963;Hs.736999 1675293;1694844;1763717;1765587;2119279;2135060;2160843 Cda16g01;G43675;SHGC-147387;SHGC-149045;SHGC-75349;SHGC-75351;WI-14735 OTTHUMP00000013503;OTTHUMP00000013504;OTTHUMP00000195668;synaptotagmin-6;sytVI APPROVED protein-coding ENSG00000134207 HGNC:18638 09654 607718 REVIEWED 1354462 SYT9 synaptotagmin IX ENCODES a protein that exhibits identical protein binding (inferred); metal ion binding (inferred); transporter activity (inferred); INVOLVED IN positive regulation of calcium ion-dependent exocytosis (inferred); regulation of calcium ion-dependent exocytosis (inferred); regulation of insulin secretion (inferred); PARTICIPATES IN calcium/calcium-mediated signaling pathway; insulin secretion pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); dense core granule (inferred); integral component of membrane (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; aflatoxin B1; cyclosporin A 11 11 11 p15.4 7392278 7609358 + 7273181 7490276 + 7251950 7469045 + 1580863;2311148;2311147;6480464;2311146;8554872 11751925;16165130;18713958 10734137;11543631;12062043;12062430;12477932;12966166;14702039;15066994;15489334;20379614;22359512;23382691;24324551;8901523 143425 B3KNT7;E9PDN4;Q86SS6 ABBA01028679;ABBA01028680;AC027804;AC060799;AC107884;AK055003;AK055929;AK127795;AK315013;AL137512;AMYH02024277;AMYH02024278;AMYH02024279;AMYH02024280;AMYH02024281;BC029605;BC046367;CH471064;NM_175733;XM_005252795;XM_006718147 AAH29605;AAH46367;BAG37505;BAG51449;EAW68659;NP_783860;Q86SS6;XP_005252852;XP_006718210 Hs.177193 1337036;1711920;1711922;1728223;1731281;1737655;1764325;1858253;2157997;2164443;2180584;5037552;5118576;7184032 A005E31;A006P43;D11S1331;D11S3263;D11S3430;D11S690;D8S2279;G17607;G49571;G49572;G63534;RH12015;SHGC-147933 FLJ45896 OTTHUMP00000229976;synaptotagmin-9;sytIX protein-coding ENSG00000170743 HGNC:19265 11618 613528 VALIDATED 1347431 SYT8 synaptotagmin VIII This gene encodes a member of the synaptotagmin protein family. Synaptotagmins are membrane proteins that are important in neurotransmission and hormone secretion, both of which involve regulated exocytosis. Expression of the encoded protein in human pancreatic islets has been connected to activity of the promoter for the insulin gene, on the same chromosome several hundred kilobases away (PMID: 21336277 and 22928559). This association would link response to gluclose to insulin secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] 11 11 11 p15.5 1893432 1896508 + 1855674 1858751 + 1834444 1837521 + 61762;1580863;6480464 7791877 10734137;12477932;14702039;19913121;20379614;20628086;21336277;22928559;23936387;24065953 90019 A6NCR4;C9J253;C9K032;F8WBL4;H0Y3G9;Q8NBV8 ABBA01012161;AC051649;AK075202;AK131292;AK293395;AL137708;AMYH02024178;AY353087;BC038591;BC144657;BC144659;BC144660;BC144661;BP225728;BX365067;BX396540;BX399734;CB321892;CH471158;CQ783293;CV572958;NG_011621;NG_034029;NM_001290332;NM_001290333;NM_001290334;NM_138567;XM_005253216;XM_006718370;XM_006718371 AAI60127;AAQ57209;BAC11467;BAD18463;BAG56904;CAB70885;CAF86504;EAX02465;EAX02466;NP_001277261;NP_001277262;NP_001277263;NP_612634;Q8NBV8;XP_005253273;XP_006718433;XP_006718434 Hs.161031;Hs.738918 1807364;1808254;1809404;1813106;1836006;1840590;2089266;2089268;2089276;2089278;2089280;2089282;2089284;2089286;2089288;2089290;2089292;2089294;2089296;2089298;2089300;2089302;2089304;2089306;2089308;2089310;2089312;2089314;2216436;2216438 ECD04653;ECD05108;ECD05694;ECD07572;ECD19164;ECD21485;REN115895;REN115896;REN115900;REN115901;REN115902;REN115903;REN115904;REN115905;REN115906;REN115907;REN115908;REN115909;REN115910;REN115911;REN115912;REN115913;REN115914;REN115915;REN115916;REN115917;REN115918;REN115919;stSG548512;stSG548513 DKFZp434K0322 OTTHUMP00000010578;OTTHUMP00000011603;OTTHUMP00000069337;synaptotagmin 8;synaptotagmin-8;sytVIII APPROVED protein-coding ENSG00000149043 HGNC:19264 09655 607719 REVIEWED 1321784 SYTL1 synaptotagmin-like 1 ENCODES a protein that exhibits neurexin family protein binding (ortholog); INVOLVED IN exocytosis; FOUND IN extracellular vesicular exosome; plasma membrane; extrinsic component of plasma membrane (ortholog); INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 1 1 1 p36.11 26065672 26077707 + 27668483 27680423 + 27341992 27353932 + 1580863;6480464 11243866;11278853;11773082;11980908;12137562;12477932;12590134;14702039;15489334;16004602;16344560;17200145;18266782;19528539;22438581;23082202;23140275;24285265;8889548 84958 Q5SSC6;Q5SSD1;Q8IYJ3 ABBA01034969;ABBA01034970;AK027902;AK074154;AK096437;AK097172;AK126120;AK293038;AMYH02000599;AY037157;BC009224;BC015764;BC035725;CB851688;CH471059;DA435960;DA948740;FO393419;NM_001193308;NM_032872;XM_005246021;XM_005246022;XM_006710987;XM_006710988;XM_006710989;XM_006710990;XM_006710991;XM_006710992 AAH09224;AAH15764;AAH35725;AAK67636;ABM82143;ABM85326;BAB55444;BAB84980;BAC04970;BAF85727;EAX07759;EAX07760;EAX07761;EAX07762;NP_001180237;NP_116261;Q8IYJ3;XP_005246078;XP_005246079;XP_006711050;XP_006711051;XP_006711052;XP_006711053;XP_006711054;XP_006711055 Hs.469175 1781822;2186479;5014051;5037552 D8S2278;D8S2279;SHGC-156284;SHGC-74508 FLJ14996;JFC1;SLP1 NADPH oxidase-related, C2 domain-containing protein;OTTHUMP00000006401;exophilin-7;synaptotagmin-like protein 1 protein-coding ENSG00000142765 HGNC:15584 608042 VALIDATED 1352944 SYTL3 synaptotagmin-like 3 The protein encoded by this gene belongs to the family of synaptotagmin-like proteins (SLPs). SLPs are peripheral membrane proteins that interact with RAB27A protein, and play a role in vesicular trafficking. Unlike, SLPs 1 and 2, this protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 6 6 6 q25.3 159719041 159833917 + 159065931 159185908 + 158644899 158764876 + 6480464;8554872 11243866;11773082;12477932;12590134;14702039;16344560;19913121;20467438;20628086;21906983 94120 B4E2A9;F8W7H4;Q4VX76 ABBA01021080;ABBA01021081;ABBA01021082;ABBA01021083;ABBA01021084;ABBA01021085;ABBA01021086;ABBA01021087;AI674404;AK055750;AK092729;AK131092;AK298712;AK304191;AL567177;AL589931;AMYH02014853;AMYH02014854;AMYH02014855;AMYH02014856;BC042966;BC085612;BC100828;BC100829;BC100830;BC100831;CH471051;DB175440;DC394549;NG_029794;NM_001009991;NM_001242384;NM_001242394;NM_001242395;XM_005267214;XM_005267215;XM_005267217;XM_005267218;XM_005267222;XM_006715605;XM_006715606;XM_006715607;XM_006715608;XM_006715609;XM_006715610;XM_006715611 AAH85612;AAI00831;AAI00832;BAC85142;BAG60868;BAG65071;EAW47648;EAW47649;EAW47650;EAW47651;EAW47652;EAW47653;EAW47654;NP_001009991;NP_001229313;NP_001229323;NP_001229324;Q4VX76;XP_005267271;XP_005267272;XP_005267274;XP_005267275;XP_005267279;XP_006715668;XP_006715669;XP_006715670;XP_006715671;XP_006715672;XP_006715673;XP_006715674 Hs.436977;Hs.733155 1648429;1661388;1689755;1717685;1754363;1763771;5024039 D16S325;D6S1975;RH122273;RH46204;SHGC-132381;SHGC-147444;SHGC-2438 MGC105130;MGC118883;MGC118884;MGC118885;SLP3 OTTHUMP00000017505;exophilin-6;synaptotagmin-like protein 3 APPROVED protein-coding ENSG00000164674 HGNC:15587 15462 REVIEWED 1316959 SYTL2 synaptotagmin-like 2 The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jun 2009] 11 11 11 q14 82714568 82831481 - 85405264 85522197 - 85694221 85811154 - 1580863;6480464;8554872 10737800;10865129;10997877;11243866;11327731;11543631;11773082;11980908;12477932;12590134;14702039;15231748;15489334;16051665;16303743;16344560;17182843;17207965;17643375;17672918;18029348;18266782;18812475;18832576;18940603;19389623;20195357;20654157;20729199;21223688;22724020;22820376;23000965;23940030;24284068;8125298;8976547 54843 E9PIB5;E9PK22;E9PPL3;E9PQL8;E9PRW5;E9PS29;E9PS39;J3KP28;Q9HCH5 AB046817;ABBA01017335;AI928445;AJ303364;AK000170;AK024872;AK056722;AK074737;AK092121;AK124754;AK127504;AK131365;AK222707;AK222710;AK296224;AK296740;AK298604;AL601023;AL706957;AL834422;AMYH02025218;AMYH02025219;AMYH02025220;AMYH02025221;AP000642;AP000974;AY386362;BC015540;BC068495;BC110315;BC136450;BC144114;BC144115;BQ308382;BX427706;BX647671;BX648068;CB046277;CH471076;CQ783637;DA282196;DA344600;DA378461;DA449325;DC348081;EU035829;KF455426;NG_029712;NM_001162951;NM_001162952;NM_001162953;NM_001289608;NM_001289609;NM_001289610;NM_032379;NM_032943;NM_206927;NM_206928;NM_206929;NM_206930;XM_005274057;XM_005274058;XM_005274059;XM_005274060;XM_005274061;XM_005274062;XM_005274063;XM_005274066;XM_005274067;XM_006718589;XM_006718590 AAH15540;AAI10316;AAI36451;AAI44115;AAI44116;AAR25619;ABV82746;ADQ32299;BAA90989;BAB13423;BAB15030;BAC11170;BAC85937;BAC87010;BAD18516;BAG52485;BAG58947;BAG59325;BAG60788;CAC33886;CAD39083;CAF86787;EAW75107;EAW75108;EAW75109;EAW75110;EAW75111;EAW75112;EAW75113;NP_001156423;NP_001156424;NP_001156425;NP_001276537;NP_001276538;NP_001276539;NP_115755;NP_116561;NP_996810;NP_996811;NP_996812;NP_996813;Q9HCH5;XP_005274114;XP_005274115;XP_005274116;XP_005274117;XP_005274118;XP_005274119;XP_005274120;XP_005274123;XP_005274124;XP_006718652;XP_006718653 Hs.369520 1686478;1750711;2128941;2159947;5014051;5015619;5037552 D11S3114;D8S2278;D8S2279;RH46567;RH47731;SHGC-112195;SHGC-36010 CHR11SYT;EXO4;FLJ21219;FLJ34802;FLJ42764;FLJ45597;KIAA1597;MGC102768;PPP1R151;SGA72M;SLP2;SLP2A OTTHUMP00000234607;OTTHUMP00000234608;OTTHUMP00000234609;OTTHUMP00000234611;OTTHUMP00000234612;OTTHUMP00000234613;OTTHUMP00000234614;OTTHUMP00000234615;OTTHUMP00000234616;OTTHUMP00000234617;OTTHUMP00000234618;breast cancer-associated antigen SGA-72M;chromosome 11 synaptotagmin;exophilin-4;synaptotagmin-like protein 2 APPROVED protein-coding ENSG00000137501 HGNC:15585 10260 612880 REVIEWED 736279 SYTL5 synaptotagmin-like 5 The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X p21.1 42003495 42125714 + 37865835 37988073 + 38006582 38128820 + 1580863;6480464;8554872 12051743;12477932;12590134;16630545;20932654;23568457 94122 Q8TDW5 AB080222;ABBA01047054;ABBA01047055;ABBA01047056;ABBA01047057;ABBA01047058;ABBA01047059;ABBA01047060;ABBA01047061;ABBA01047062;ABBA01047063;ABBA01047064;ABBA01047065;ABBA01047066;ABBA01047067;AK125106;AL121578;AL135038;AMYH02039170;AMYH02039171;BC131585;BX647688;CH471141;NG_013265;NM_001163334;NM_001163335;NM_138780 AAI31586;BAB88906;EAW59448;EAW59449;EAW59450;NP_001156806;NP_001156807;NP_620135;Q8TDW5 Hs.662334 1676330;1702140;2112164;5023077 DXS1349;DXS9819;RH98374;ha3038 slp5 OTTHUMP00000031916;exophilin 9;synaptotagmin 15;synaptotagmin-like protein 5 APPROVED protein-coding ENSG00000147041 HGNC:15589 06736 REVIEWED 1603603 SYVN1 synovial apoptosis inhibitor 1, synoviolin This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011] 11 11 11 q13 62221052 62228305 - 64894751 64902285 - 65127279 65134532 - 6480464;6907045;8554872 11256614;11347906;12459480;12477932;12646171;12975321;14593114;15215312;15489334;15572843;16186509;16186510;16289116;16713569;16751776;16786162;16802346;16822850;16847254;17059562;17141218;17157811;17170702;17451556;17502376;17582219;17872946;17967421;18029348;18235538;18264092;18314878;18344614;18369366;18502753;18664523;18711132;19103148;19116932;19135427;19164805;19443960;19690564;19828134;19835843;19864457;19946888;20160352;20237263;20414249;20519503;20606367;20947508;21062743;21139048;21149444;21199683;21245296;21343306;21357747;21454652;21832065;21857022;21903092;21906983;21949850;21987572;22119785;22280354;23097496;23129766;23233672;23356641;23363602;23867461;23929775;24068323;24100225;24356957;24366871;24584735;24636985;24816145;25002582 84447 E9PK19;E9PMA1;E9PN88;H0YCR6;Q86TM6 AA864844;AB058713;AB085847;ABBA01024134;ABBA01024135;AF317634;AK074148;AK126912;AL834262;AMYH02024953;AP003068;BC013860;BC030530;BC035473;CH471076;DQ574657;KF511151;NG_029713;NM_032431;NM_172230;XM_006718712;XM_006718713 AAH30530;AAI41663;AAL26903;ABW03387;ABW03727;ABZ92145;BAB47439;BAB84974;BAC24801;BAG54394;CAD38937;EAW74357;EAW74358;EAW74359;EAW74360;EAW74361;EAW74362;NP_115807;NP_757385;Q86TM6;XP_006718775;XP_006718776 Hs.75859 1690588;2176473;2178211;2184180 RH18051;RH36465;RH70124;RH70269 DER3;HRD1;KIAA1810;MGC40372 E3 ubiquitin-protein ligase synoviolin;HMG-coA reductase degradation 1 homolog;OTTHUMP00000230429;OTTHUMP00000230430;OTTHUMP00000230431;OTTHUMP00000230432 APPROVED protein-coding ENSG00000162298 HGNC:20738 07618 608046 REVIEWED 734138 SYTL4 synaptotagmin-like 4 This gene encodes a member of the synaptotagmin like protein family. Members of this family are characterized by an N-terminal Rab27 binding domain and C-terminal tandem C2 domains. The encoded protein binds specific small Rab GTPases and is involved in intracellular membrane trafficking. This protein binds Rab27 and may be involved in inhibiting dense core vesicle exocytosis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Mar 2010] X X X q21.33 100448228 100505895 - 99929488 99987135 - 100674491 100732148 - 1580863;6480464 10497219;11773082;11865063;11956164;12101244;12176990;12477932;12590134;12665801;14702039;15342556;15489334;15563604;15772651;16189514;16344560;16831872;17081983;18029348;19615732;19966785;20360068;23000965;23140275;24700782 94121 A8K973;B2R7R4;Q71SF7;Q96C24 ABBA01064134;ABBA01064135;ABBA01064136;ABBA01064137;ABBA01064138;ABBA01064139;ABBA01064140;ABBA01064141;ABBA01064142;ABBA01064143;AF302493;AK098279;AK292588;AK313086;AL390040;AL832596;AMYH02040058;AMYH02040059;AMYH02040060;BC014913;BP354718;BX537410;CH471115;DB285556;NG_016858;NM_001129896;NM_001174068;NM_080737;XM_005262226;XM_005262229;XM_006724717;XM_006724718;Z73900 AAH14913;AAQ14492;BAF85277;BAG35911;BAG53606;CAD97652;CAI42004;CAI42005;CAI46126;EAX02813;EAX02814;EAX02815;NP_001123368;NP_001167539;NP_542775;Q96C24;XP_005262283;XP_005262286;XP_006724780;XP_006724781 Hs.592224 1848145 DXS9763 DKFZp451P0116;FLJ40960;SLP4 OTTHUMP00000023654;OTTHUMP00000023655;exophilin-2;granuphilin-a;synaptotagmin-like protein 4 APPROVED protein-coding ENSG00000102362 HGNC:15588 06735 300723 REVIEWED 1607050 SZRD1 SUZ RNA binding domain containing 1 INTERACTS WITH (+)-catechin; all-trans-retinoic acid; copper(2+) sulfate 1 1 1 p36.13 15173509 15204567 + 16693525 16724643 + 16367030 16398148 + 6480464 12477932;12761501;14702039;17207965;19322201;21139048;22863883;24250222;24816145 26099 F8WDF4;Q7Z422 AB097042;AB097043;AB097044;AB097045;AB097046;ABBA01004670;ABBA01004671;AC244454;AJ295987;AK098272;AK297926;AK298576;AK308787;AK316205;AL050028;AL358794;AL832937;BC010631;BC023988;BC065538;BX640985;CH471167;DA010145;DA438597;DB501645;DC320437;NM_001114600;NM_001271869;NR_073500;NR_073501;NR_073502;NR_073503 AAH23988;AAH65538;ADQ33109;BAC77395;BAC77396;BAC77397;BAC77398;BAC77399;BAG60243;BAG60768;BAH14576;CAB43245;CAC82500;EAW51777;NP_001108072;NP_001258798;Q7Z422 Hs.252967 1655638;1732976;2142334;2157520;2187030;5113242;5113549;5124669 D1S1357;RH41831;RH66504;RH70040;RH80502;SHGC-74280;SHGC-74284;STS-N57662 C1orf144;DKFZp566C0424;MGC70432 OTTHUMP00000002235;OTTHUMP00000215503;OTTHUMP00000215504;OTTHUMP00000215505;SUZ domain-containing protein 1;UPF0485 protein C1orf144;putative MAPK activating protein PM20,PM21;putative MAPK-activating protein PM18/PM20/PM22 APPROVED protein-coding ENSG00000055070 HGNC:30232 13213 VALIDATED 6481416 SZT2-AS1 SZT2 antisense RNA 1 p34.2 100873952 AL583862;CA432588 Hs.737454 APPROVED ncrna HGNC:41225 1603692 SZT2 seizure threshold 2 homolog (mouse) The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011] 1 1 1 p34.2 42170952 42200501 + 43855556 43919918 + 43389885 43454247 + 6480464;8699517;7240710;8554872 10737800;11181995;12477932;14702039;15028280;15489334;16710414;16712842;21139048;23932106;24324832;9455484 23334 Q5T011 AB007936;ABBA01050956;AK001249;AK027078;AK091821;AK126972;AK131107;AL117402;AL139289;AL583862;AMYH02000898;AMYH02000899;AMYH02000900;AMYH02000901;BC017576;BC041069;BC051343;BC052802;BC082968;BC151232;BF826848;BF926328;BF927604;BU101724;BU633294;BX423490;CH471059;DY655545;NG_029091;NM_015284;XM_005270686;XM_006710501;XM_006710502 AAH17576;AAH41069;AAH52802;AAH82968;AAI51233;BAA32312;BAB15649;BAC03755;BAC85157;BAC86771;CAB55903;EAX07095;EAX07096;EAX07097;EAX07098;NP_056099;Q5T011;XP_005270743;XP_006710564;XP_006710565 Hs.643560 1688024;1696948;1699640;5019068;5020948 G35510;G44325;RH101946;RH103424;RH80143 C1orf84;EIEE18;FLJ00408;FLJ10387;FLJ23425;FLJ34502;KIAA0467;RP11-506B15.1;RP11-506B15.3;SZT2A;SZT2B OTTHUMP00000008576;OTTHUMP00000008577;OTTHUMP00000008578;hypothetical protein LOC23334;seizure threshold 2 homolog A;seizure threshold 2 homolog B;seizure threshold 2 protein homolog APPROVED protein-coding ENSG00000198198 HGNC:29040 11085 615463;615476 REVIEWED 1346236 TAAR1 trace amine associated receptor 1 TAAR1 is a G protein-coupled receptor activated by trace amines. Trace amines are endogenous amine compounds that account for less than 1% of the biogenic amines in most brain regions (Bunzow et al., 2001 [PubMed 11723224]).[supplied by OMIM, Mar 2008] 6 6 6 q23.2 133712961 133713980 - 132966123 132967142 - 132644984 132646003 - 634071;1580863;6480464 11459929 11723224;12036966;12477932;14574404;15489334;15718104;16878137;17900709;18240029;18577758;18602830;19892733;21073468;21670104;22038157;22079347;22114263;23315425;9491887 134864 Q96RJ0 ABBA01025878;AF200627;AF380185;AL513524;AMYH02014502;AY180374;BC101825;BC112194;CH471051;NM_138327 AAG17112;AAI01826;AAI12195;AAK71236;AAO22154;EAW48021;NP_612200;Q96RJ0 Hs.375030 1794774;5492875 PMC55357P1;UniSTS:483092 MGC126874;MGC138399;RP11-295F4.9;TA1;TAR1;TRAR1;taR-1 OTTHUMP00000017224;trace amine receptor 1;trace amine-associated receptor 1 APPROVED protein-coding ENSG00000146399 HGNC:17734 18142 609333 PROVISIONAL 1320869 T T, brachyury homolog (mouse) The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 6 6 6 q27 167310712 167321757 - 166571144 166582157 - 166157656 166168669 - 1580863;6480464;7240710;8699517;8554872 10768863;11897834;12000749;12477932;14574404;1516477;17273972;18301055;18466071;18593560;18820665;19801981;20602751;20670140;20855213;21102418;21171078;21220197;21365650;21397407;21478681;21816365;22007675;22164283;22446946;22538805;22548442;22589738;22833560;22847733;23076115;23218904;23456319;23653219;23783250;23788039;23913553;23965741;24253444;24445144;24815864;8733136;8963900 6862 H0YM91;J3KP65;O15178 ABBA01015077;AJ001699;AL627443;AMYH02014961;BC039877;BC098425;BE785653;BG436736;BU190437;CH471051;HI638829;NG_012135;NM_001270484;NM_003181 AAH98425;CAA04938;CBX55887;EAW47538;EAW47539;NP_001257413;NP_003172;O15178 Hs.389457;Hs.742027 1797016 T_864 MGC104817;SAVA;TFT OTTHUMP00000017588;T brachyury homolog;T brachyury-like;brachyury protein APPROVED protein-coding ENSG00000164458 HGNC:11515 03236 182940;601397;615709 REVIEWED 1606827 TAAR2 trace amine associated receptor 2 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); trace-amine receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 q24 133685125 133692251 - 132938289 132945414 - 132617150 132624275 - 6480464;8554872 10684976;12477932;14574404;15489334;15718104;16878137;18240029;23315425;24163370 9287 Q9P1P5 ABBA01025878;AF112460;AL513524;AMYH02014501;AMYH02014502;AY702304;AY703480;BC067461;BC067462;BC067463;CH471051;DN693314;E13892;NM_001033080;NM_014626 AAF27278;AAH67461;AAH67462;AAH67463;AAI40325;AAI48689;AAV70122;AAV70150;EAW48024;NP_001028252;NP_055441;Q9P1P5 Hs.272382 GPR58;taR-2 G protein-coupled receptor 58;G-protein coupled receptor 58;OTTHUMP00000017225;OTTHUMP00000233722;trace amine receptor 2;trace amine-associated receptor 2 protein-coding ENSG00000146378 HGNC:4514 06887 604849 VALIDATED 1343570 TAAR3 trace amine associated receptor 3 (gene/pseudogene) ENCODES a protein that exhibits trace-amine receptor activity (ortholog); INVOLVED IN sensory perception of chemical stimulus (ortholog); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 6 6 6 q23-q24 133676200 133677277 - 132929364 132930441 - 132608225 132609302 - 632893;1580863;6480464 10684976 12477932;14559210;15718104;15891052;16878137;18240029;19325074;20210993 9288 Q9P1P4 ABBA01025878;AF112461;AF112462;AL513524;AMYH02014501;AY702305;BC095548;NR_028511 AAF27279;Q9P1P4 Hs.730091 1747889 G66864 GPR57;GPR58;TAAR2 g protein-coupled receptor 57 pseudo ENSG00000179073 HGNC:4513 VALIDATED 1605473 TAAR4P trace amine associated receptor 4, pseudogene INTERACTS WITH potassium dichromate (ortholog) 6 6 6 q23.2 133662364 133663414 - 132915528 132916578 - 132594389 132595439 - 6480464 15718104;16878137;18085818;19325074;20210993;9473609 503612 ABBA01025878;AL513524;AMYH02014501;NG_004855;U88828 APPROVED pseudo HGNC:31924 INFERRED 1348964 TAAR6 trace amine associated receptor 6 This gene encodes a seven-transmembrane G-protein-coupled receptor that likely functions as a receptor for endogenous trace amines. Mutations in this gene may be associated with schizophrenia.[provided by RefSeq, Feb 2010] 6 6 6 q23.2 133638298 133639335 + 132891461 132892498 + 132570322 132571359 + 634071;1580863;6480464;8554872 11459929 12477932;14574404;15329799;15489334;15718104;16075187;16189505;16878137;17097106;17505468;17895926;17957234;18198266;18240029;18583103;18628684;18973992;18978678;19345712;19582769;19643584;19766166;20493543;9226366;9674972 319100 Q96RI8 ABBA01025878;AF380192;AL513524;AMYH02014501;AY183470;BC069157;CH471051;NG_016544;NM_175067 AAH69157;AAK71243;AAO24661;EAW48026;NP_778237;Q96RI8 Hs.434196 1298296;1298306;1858676;1858678;1858680;1858682;2107707;5492269;5492525 D6S1009;D6S1056;TA4-seq2-SNP1;TA4-seq3-SNP2;TA4-seq4-SNP1;TA4-seq5-SNP3;TRAR4__5131;Taar6;UniSTS:481477 RP11-295F4.3;SCZD5;TA4;TAR4;TAR6;TRAR4;taR-4;taR-6 OTTHUMP00000017222;trace amine receptor 4;trace amine receptor 6;trace amine-associated receptor 6 APPROVED protein-coding ENSG00000146383 HGNC:20978 16404 608923 REVIEWED 1603706 TAAR5 trace amine associated receptor 5 ENCODES a protein that exhibits trimethylamine receptor activity; INVOLVED IN G-protein coupled receptor signaling pathway (inferred); sensory perception of chemical stimulus (inferred); signal transduction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 6 6 6 q23 133656568 133657714 - 132909731 132910877 - 132588592 132589738 - 6480464;8554872 12477932;14574404;15489334;15718104;16878137;18240029;20559446;23393561;9464258 9038 O14804 ABBA01025878;AF021818;AL513524;AMYH02014501;AY702306;BC069171;BC095541;BC112209;BC112211;CH471051;FJ372547;NM_003967 AAC39581;AAH69171;AAH95541;AAI12210;AAI12212;AAV70123;ACP18682;EAW48025;NP_003958;O14804 Hs.248198 1706920;2219526;5492515;5493287 PNR__5739;SHGC-80949;UniSTS:481448;UniSTS:485606 MGC138414;MGC138416;PNR;RP11-295F4.5;hTaar5;taR-5 OTTHUMP00000017223;putative neurotransmitter receptor;trace amine receptor 5;trace amine-associated receptor 5 protein-coding ENSG00000135569 HGNC:30236 08459 607405 VALIDATED 1605474 TAAR7P trace amine associated receptor 7, pseudogene 6 6 6 q23.2 133627000 133627209 + 132880163 132880372 + 132559024 132559233 + 15718104;16584120;16878137 503611 ABBA01025878;AL513524;AMYH02014501;AY803193;NG_004854 APPROVED pseudo HGNC:31925 INFERRED 1345308 TAAR8 trace amine associated receptor 8 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); trace-amine receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog); C60 fullerene (ortholog) 6 6 6 q23.2 133620669 133621697 + 132873832 132874860 + 132552693 132553721 + 634071;1580863;6480464 11459929 11574155;12477932;14574404;15489334;15718104;16584120;16878137;18240029 83551 Q969N4 ABBA01025878;AF380193;AF411116;AL513524;AMYH02014501;AY183468;BC069166;CH471051;NM_053278 AAH69166;AAK71244;AAL26487;AAO24659;EAW48027;NP_444508;Q969N4 Hs.350571 5492493 UniSTS:481294 GPR102;TA5;TAR5;TRAR5;TaR-5;TaR-8 G protein-coupled receptor 102;G-protein coupled receptor 102;OTTHUMP00000017226;trace amine receptor 5;trace amine receptor 8;trace amine-associated receptor 8 APPROVED protein-coding ENSG00000146385 HGNC:14964 09496 606927 PROVISIONAL 1352345 TAAR9 trace amine associated receptor 9 (gene/pseudogene) TAAR9 is a member of a large family of rhodopsin G protein-coupled receptors (GPCRs, or GPRs). GPCRs contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Jul 2005] 6 6 6 q23.2 133606264 133607312 + 132859427 132860475 + 132538288 132539336 + 1580863;6480464 11459929;12477932;14559210;15718104;16878137;18240029;20006992 134860 Q96RI9 ABBA01025878;AF380189;AL513524;AMYH02014501;AY183469;BC069083;CH471051;KF459634;NM_175057 AAI60069;AAK71240;AAO24660;EAW48028;NP_778227;Q96RI9 Hs.434116 5492523;5493077 UniSTS:481470;UniSTS:484171 TA3;TAR3;TAR9;TRAR3 OTTHUMP00000206472;trace amine receptor 3;trace amine receptor 9;trace amine-associated receptor 9 APPROVED protein-coding ENSG00000237110 HGNC:20977 16308 608282 REVIEWED 1314707 TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23597809 23635185 + 39795759 39833132 + 39399754 39437127 + 1580863;5490218;5490215;5685016;6480464;6484113;6907045;5490225 18535784;20086235;20940366;21135871 10066798;10094049;10187861;10591208;10702308;10838074;10882101;11323434;11460167;11518704;11737269;11847341;11865055;12048196;12242293;12372426;12429732;12477932;12482967;12589052;12598905;12609980;12829618;12975377;14670075;14743216;15276183;15324660;15489334;15590691;16260783;16648477;16879102;17620599;17626013;18021073;18079694;18271526;18286207;18316610;18456659;19026643;19112497;19167051;19232515;19393267;19556242;19578758;19710015;19875381;20005846;20200282;20448286;20538596;20570966;20805296;21102463;21139048;21159881;21399635;21706016;21890473;21900206;21903422;21988832;22158122;22167179;22216226;22307082;22525462;22952844;22972987;23000965;23022380;23128233;23221546;23382691;23402259;23524849;23825189;23934659;24084649;24255178;24947323;25036637;8638164;9162092;9663660;9744859;9878061 10454 A8K6K3;Q15750 ABBA01055567;ABBA01055568;AF425640;AI827837;AK291668;AK296314;AK308903;AK312456;AK316004;AMYH02038381;BC038582;BC050554;CH471095;DQ314876;EF036484;NG_029549;NM_006116;NM_153497;U49928;Z83845 AAC12660;AAH50554;AAN32760;ABC40735;ABO65070;BAF84357;BAG35363;BAH12311;BAH14375;EAW60325;EAW60326;EAW60327;EAW60328;EAW60329;EAW60330;EAW60331;NP_006107;NP_705717;Q15750 Hs.507681;Hs.729080 1652611;1653481;1678071;1682155;1698874;1730417;1735060;1735072;2109491;2124824;2150868;2171560 BCD2105;D22S1000E;D22S1007E;D22S1025E;D22S1561;D22S288E;MAP3K7IP1_9114;RH103004;RH11333;RH47637;WI-12558;WI-18691 3'-Tab1;MAP3K7IP1;MGC57664 OTTHUMP00000199134;OTTHUMP00000199135;TAK1-binding protein 1;TGF-beta-activated kinase 1 and MAP3K7-binding protein 1;TGF-beta-activated kinase 1-binding protein 1;mitogen-activated protein kinase kinase kinase 7 interacting protein 1;mitogen-activated protein kinase kinase kinase 7-interacting protein 1;transforming growth factor beta-activated kinase-binding protein 1 APPROVED protein-coding ENSG00000100324 HGNC:18157 04012 602615 REVIEWED 1319911 TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 6 6 6 q25.1 150374542 150467843 + 149639436 149732747 + 149318300 149411611 + 1580863;5490218;5490215;5685016;6480464;6484113;6907045;5490225;8699517;7240710;8554872 18535784;20086235;20940366;21135871 10066798;10882101;11259596;11460167;11518704;11809792;12048196;12150997;12168954;12242293;12477932;12496252;12609980;12761501;14574404;14633987;14670075;14743216;15220215;15276183;15327770;15489334;15590691;15670770;15829968;15836773;16251197;16311020;16384851;16446357;16469706;16527194;16603398;16755651;17018285;17043677;17047224;17158449;17384642;17449468;17586463;17626013;17720800;17903294;17948050;17986383;18021073;18079694;18180283;18299187;18345001;19026643;19112497;19150425;19232515;19373254;19393267;19460752;19521662;19556242;19675569;19875381;19927120;19935683;19955178;20005846;20064081;20194509;20200282;20448286;20493459;20538596;20875659;20948191;21035162;21048031;21139048;21441570;21512569;21512573;21572451;21575904;21700681;21732829;21811235;21832049;21866272;21903422;21976705;21987572;21988832;22081109;22158122;22167179;22190034;22249258;22383897;22660635;22819327;22924441;22972987;23221546;23402259;23807287;23818111;23986494;24061540;24096733;24270572;24434549;24498425;24735611;8638164;8889548;9162092;9744859;9872452 23118 B4DIR9;Q9NYJ8;U3KQ62;U3KQR0 AB018276;ABBA01025682;ABBA01025683;ABBA01025684;AF241230;AI159838;AK025538;AK295750;AK307650;AK315038;AL050180;AL117407;AL138727;AL139103;AMYH02014690;BC035910;BC041998;BM661637;BX645362;CH471051;CR457387;DA154923;DB467477;DQ314877;HG499787;HG499788;NG_021386;NM_001292034;NM_001292035;NM_015093;NR_125861;XM_006715403;XR_250046 AAF67176;AAH35910;ABC40736;BAA34453;BAG37521;BAG58581;CAB55907;CAG33668;EAW47805;EAW47806;EAW47807;NP_001278963;NP_001278964;NP_055908;Q9NYJ8;XP_006715466 Hs.269775;Hs.520477 1645227;1650023;1654727;1728139;1739219;2117070;2126422;2126548;2130209;2142256;2165328 D6S1131E;D6S1373;D6S2184;G31017;G63492;RH17819;RH66149;RH68634;STS-AA032206;STS-T59224;WI-20522 CHTD2;FLJ21885;KIAA0733;MAP3K7IP2;TAB-2 OTTHUMP00000017388;TAK1-binding protein 2;TGF-beta-activated kinase 1 and MAP3K7-binding protein 2;TGF-beta-activated kinase 1-binding protein 2;mitogen-activated protein kinase kinase kinase 7-interacting protein 2 APPROVED protein-coding ENSG00000055208 HGNC:17075 05483 605101;614980 REVIEWED 1603527 TAB3 TGF-beta activated kinase 1/MAP3K7 binding protein 3 The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] X X X p21.2 34973775 35018119 - 30845559 30907511 - 30827442 30889394 - 5490218;5685016;6480464;6907045;5490225;8554872 18535784;20940366;21135871 10066798;10882101;12477932;12609980;14633987;14670075;14702039;14743216;14766965;15276183;15327770;15489334;16189514;17158449;17384642;17449468;18021073;18345001;19232515;19521662;19820708;19927120;21139048;21512569;21512573;21572451;21575904;21866272;21903422;21976705;22081109;22158122;22660635;23286385;24434549;24565101 257397 F6SS63;Q8N5C8 ABBA01072989;ABBA01072990;ABBA01072991;ABBA01072992;ABBA01072993;ABBA01072994;AC108359;AC117405;AK096786;AK297274;AL832071;AMYH02039120;AMYH02039121;AY331591;AY331592;AY371491;AY437560;BC032526;BU849692;CH471074;KF459043;NG_012845;NM_152787;XM_005274482;XM_005274483;XM_005274484;XR_430492 AAH32526;AAQ88279;AAQ92938;AAQ92939;AAR06179;BAG59746;CAI46137;EAW99057;EAW99058;EAW99059;NP_690000;Q8N5C8;XP_005274539;XP_005274540;XP_005274541 Hs.188256 1659128;1787322;2220282 AB055321;RH48054;SHGC-153633 MAP3K7IP3;MGC45404;NAP1;TAB-3 NF-kappa-B-activating protein 1;NFkB activating protein 1;OTTHUMP00000023112;TAK1-binding protein 3;TGF-beta-activated kinase 1 and MAP3K7-binding protein 3;TGF-beta-activated kinase 1-binding protein 3;mitogen-activated protein kinase kinase kinase 7 interacting protein 3 APPROVED protein-coding ENSG00000157625 HGNC:30681 06738 300480 REVIEWED 6481398 TAB3-AS2 TAB3 antisense RNA 2 p21.2 10737800 100873926 AC108359;BI002962 Hs.188256 APPROVED ncrna HGNC:40013 619560 TAC1 tachykinin, precursor 1 This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q21-q22 92055970 92064483 + 97361271 97369784 + 97731959 97740472 + 1580863;2304260;2304275;2304320;2305984;2304321;2304327;2304337;5147812;5147836;5147638;5147822;5147636;6480464 10516226;11031342;12662901;16369913;17493276;18053315;18326823;18337316;18420958;18715640;19797759;2471579 10189055;10491292;11104584;11113362;11160316;11278902;11342427;11591789;11786503;11919172;11921119;11950831;12382579;12383866;12477932;12486316;12528114;12548712;12578734;12603817;12686752;12690205;12705477;12752772;12854086;12871824;1312203;14532289;14564346;14589248;14703707;14749007;15130944;15358539;15489334;15544859;15690122;15729363;15761654;15899028;16169070;16503654;16754659;16816831;16877367;16952549;1708336;17087112;17175032;17257983;17264209;17370082;17376622;17409218;17448763;17450584;17494790;17588657;17655760;17667845;17703412;17709376;17855557;17940602;17949241;17975140;18061399;18179473;18197882;18211417;18289674;18316470;18363037;18507649;18577758;18599605;18615578;18941231;18990442;19036058;19046942;19086053;19200949;19207952;19246391;19258923;19279355;19381016;19598235;19685709;19695094;19812951;19855234;19874574;19885583;19909213;19913121;20029189;20160043;20173430;20207019;20237496;20347265;20405330;20417061;20468064;20497485;20503287;20526012;20529207;20580442;20628086;20692311;20861424;20940324;21076839;21091716;21107196;21160161;21167238;21368235;21375557;21550738;21671725;21900206;21926539;22020760;22057425;22115773;22189180;22354721;22392530;22429353;22449753;22572771;22681041;22733436;22836729;2284201;22906243;22961239;23257919;23345604;23420374;23719583;23737731;23862763;23873242;23995243;24010162;24084156;24286592;24374326;24577568;24603459;3038549;3770210;7692486;7961636;8125298;8702757;8957234;9272936;9482938;9548509;9655475;9846828;9847074 6863 P20366;Q9Y494 ABBA01045745;AC004140;AF050655;AF050656;AF050657;AF050658;AK222957;AMYH02016318;BC018047;CH236949;CH471091;CR407602;CR541730;DN992454;M68906;M68907;NM_003182;NM_013996;NM_013997;NM_013998;U37529;X54469 AAA60159;AAA60160;AAA79195;AAC15701;AAC15702;AAC15703;AAC15704;AAH18047;AAQ96888;AAQ96889;AAQ96890;AAQ96891;ABM83016;ABM86209;BAD96677;CAA38351;CAG28529;CAG46531;EAL24116;EAL24117;EAL24118;EAL24119;EAW76734;EAW76735;EAW76736;EAW76737;EAW76738;NP_003173;NP_054702;NP_054703;NP_054704;P20366 Hs.2563 1663435;1776853;2123431;2138395;2218070 D1S3260;STS-U37529;TAC1_3236;TAC2;WI-19154 Hs.2563;NK2;NKNA;NPK;PPT;TAC2 OTTHUMP00000204985;OTTHUMP00000204986;OTTHUMP00000204987;neurokinin 1;neurokinin 2;neurokinin A;neurokinin alpha;neuromedin L;neuropeptide K;neuropeptide gamma;preprotachykinin;protachykinin-1;substance K;substance P;tachykinin 2;tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma) APPROVED protein-coding ENSG00000006128 HGNC:11517 08876 162320 REVIEWED 2974954 TAB3P1 TGF-beta activated kinase 1/MAP3K7 binding protein 3 pseudogene 1 X Y Y q11.221 2246136 2299462 - 15263451 15316760 - 13151541 13204866 - 643199 ABBA01065558;ABBA01065559;ABBA01065560;ABBA01065561;ABBA01065562;ABBA01065563;ABBA01065564;ABBA01065565;AC005820;AC244214;NG_005581 1781344;1781352;1781354;1781356;1781358;1781360;1781362;1790453;2113538;2189793;2190289;2190291;2190293;2190295;2190297 12f2;AZFa-dist2;AZFa-dist3;AZFa-dist4;AZFa-dist5;AZFa-dist6;DYS447A22;G64725;G64729;G64730;G64731;G64732;G64733;G64861;L16 pseudo HGNC:37723 INFERRED 735700 TAC4 tachykinin 4 (hemokinin) This gene is a member of the tachykinin family of neurotransmitter-encoding genes. Tachykinin proteins are cleaved into small, secreted peptides that activate members of a family of receptor proteins. The products of this gene preferentially activate tachykinin receptor 1, and are thought to regulate peripheral endocrine and paracrine functions including blood pressure, the immune system, and endocrine gland secretion. The products of this gene lack a dibasic cleavage site found in other tachykinin proteins. Consequently, the nature of the cleavage products generated in vivo remains to be determined. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21.33 44370664 44380373 - 47915671 47925379 - 49838309 49848017 - 727210;6480464 12383518 10737800;11062498;11786503;12477932;12716968;15224188;16931167;17175032;19081134;20580442;20929541;21168392;21342363;21368235;22554585 255061 D6RAS6;Q86UU9 ABBA01041216;AC027801;AF515828;AF515829;AF515830;AF515831;AF521560;AMYH02033580;AMYH02033581;AMYH02033582;AY471574;BC100840;BC100841;BC100842;BC100843;BC111857;BC111858;BD086009;CH471109;NG_029377;NM_001077503;NM_001077504;NM_001077505;NM_001077506;NM_170685;XM_006721799 AAI00841;AAI00843;AAI00844;AAN77128;AAP30874;AAP30875;AAP30876;AAP30877;AAS46596;EAW94657;NP_001070971;NP_001070972;NP_001070973;NP_001070974;NP_733786;Q86UU9;XP_006721862 Hs.652130 1338158;1662617;1779234 D17S1795;RH70419;SHGC-152919 EK;HK-1;HK1;MGC133009;MGC133010;PPT-C OTTHUMP00000220782;OTTHUMP00000220784;OTTHUMP00000220785;OTTHUMP00000220786;OTTHUMP00000220787;endokinin;hemokinin;preprotachykinin C;preprotachykinin-C;tachykinin 4;tachykinin-4 APPROVED protein-coding ENSG00000176358 HGNC:16641 09701 607833 REVIEWED 1353248 TAC3 tachykinin 3 This gene encodes a member of the tachykinin family of secreted neuropeptides. The encoded protein is primarily expressed in the central and peripheral nervous system and functions as a neurotransmitter. This protein is the ligand for the neurokinin-3 receptor. This protein is also expressed in the outer syncytiotrophoblast of the placenta and may be associated with pregnancy-induced hypertension and pre-eclampsia. Mutations in this gene are associated with normosmic hypogonadotropic hypogonadism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 12 12 12 q13-q21 57057711 57064274 - 57403781 57410344 - 57009997 57024029 - 70033;1580863;2305983;6480464;8699517;8554872;7240710 2478257;3479225 10189055;10866201;11231038;12477932;12727971;12975309;14634580;14700748;15123623;15317475;15342556;15489334;16169070;16709596;16754659;1708331;17175032;17192395;17448763;17561251;17976896;18240076;18577758;18614256;19079066;19086053;19087492;19539370;20017703;20074343;20176081;20194706;20301509;20332248;20389091;20529119;20580442;20800582;20816945;22031817;22318412;22424618;22903610;23011920;23019350;23314748;23329188;23550013;23656837;23875773;7961636;8702757;8990205 6866 Q7Z4W6;Q9UHF0 ABBA01008447;AC026120;AF186112;AF216586;AF537113;AF537114;AF537115;AF537116;AF537117;AF537118;AF537119;AF537120;AF537121;AM179832;AMYH02026578;AX147032;AX147034;AY358679;BC032145;BE500999;BP212420;CH471054;CR457193;NG_021398;NM_001178054;NM_013251;NR_033654;XM_006719577;XM_006719578;XM_006719579;XM_006719580 AAF01430;AAF76980;AAH32145;AAQ10783;AAQ10784;AAQ10785;AAQ10786;AAQ10787;AAQ10788;AAQ10789;AAQ10790;AAQ10791;AAQ89042;ABM83185;ABM86387;CAC41162;CAC41163;CAG33474;CAJ47374;EAW96972;EAW96973;EAW96974;EAW96975;EAW96976;EAW96977;EAW96978;EAW96979;EAW96980;NP_001171525;NP_037383;Q9UHF0;XP_006719640;XP_006719641;XP_006719642;XP_006719643 Hs.9730 1848581;2182088 A004P28;D12S1906 HH10;NKB;NKNB;PRO1155;ZNEUROK1 OTTHUMP00000211122;OTTHUMP00000211123;OTTHUMP00000211124;OTTHUMP00000211125;OTTHUMP00000211126;OTTHUMP00000211127;OTTHUMP00000211128;OTTHUMP00000211129;OTTHUMP00000211130;gamma tachykinin 3;neurokinin B-like;neurokinin b;neuromedin K;preprotachykinin B;preprotachykinin-B;tachykinin-3 APPROVED protein-coding ENSG00000166863 HGNC:11521 08877 162330;614839 REVIEWED 7205142 TACC1P1 transforming, acidic coiled-coil containing protein 1 pseudogene 1 10 10 10 p11.21 37582746 37590217 + 37811938 37819410 + 37523010 37530482 + 219752 ABBA01033299;AL121927;AMYH02022656;NG_022170 1727623;1781956 G63222;SHGC-141124 pseudo HGNC:44974 INFERRED 1342908 TACC1 transforming, acidic coiled-coil containing protein 1 This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 8 8 8 p11.22 37539007 37663880 + 38585704 38710546 + 38728186 38853028 + 1580863;6480464 10366448;10435627;10470851;11121038;11903063;12087473;12165861;12389629;12477932;12547166;14602875;14603251;14702039;14767476;15064709;15207008;15489334;15592455;16344560;16496324;17081983;18029348;18984771;19176389;20078863;20508983;20734064;21139048;21531210;21890473;21906983;21963094;22558309;22837387;22939629;23275563;23354013;23455924;24358147;24816145 6867 B4E3H6;E5RFM9;E5RI10;E5RIP3;E5RJG6;E5RJU4;E7ET87;E7EVI4;H0YAY0;H0YBT8;O75410;Q5HYH0;R4GMT7 AB029026;ABBA01023520;ABBA01023521;ABBA01023522;ABBA01023523;AC016813;AC067817;AF049910;AF075051;AK124297;AK294931;AK295071;AK295841;AK303596;AK304507;AK304725;AK304774;AK308849;AK314620;AMYH02017838;AMYH02017839;AY039239;AY072873;AY072874;AY072875;AY072876;AY139007;AY177411;BC041391;BX647696;CH471080;DA553264;DB084271;NM_001122824;NM_001146216;NM_006283;XM_005273622;XM_005273624;XM_005273625;XM_005273626;XM_005273627;XM_005273628;XM_005273629;XM_005273630;XM_005273631 AAC32327;AAH41391;AAK68658;AAL62460;AAL62461;AAL62462;AAL62463;AAN28955;AAO53446;ADZ15994;BAA83055;BAG37186;BAG58010;BAG58118;BAG64611;BAG65314;BAG65488;BAG65529;BAH12199;CAI46025;EAW63293;EAW63294;EAW63295;EAW63296;EAW63297;EAW63298;NP_001116296;NP_001139688;NP_006274;O75410;XP_005273679;XP_005273681;XP_005273682;XP_005273683;XP_005273684;XP_005273685;XP_005273686;XP_005273687;XP_005273688 Hs.279245 1654780;1658048;1658838;1770079;1770824;1850918;1857652;2130402;2136214;2140439;2142761;2148742;2153231;2158047;2161273;2191419;5022578;5022651 A007I37;Cda1hf08;D11S2921;D1S1423;D8S1665;D8S1943;D8S2317;G15830;MARC_21744-21745:1024336670:3;RH12260;RH46312;RH65979;RH70332;RH79091;SHGC-33341;SHGC-56605;STS-D80026;STS-H47327 DKFZp686K18126;FLJ42304;Ga55;KIAA1103 OTTHUMP00000225580;OTTHUMP00000225581;OTTHUMP00000225582;OTTHUMP00000225586;OTTHUMP00000225587;OTTHUMP00000225588;OTTHUMP00000225589;OTTHUMP00000225590;OTTHUMP00000226044;gastric cancer antigen Ga55;taxin 1;taxin-1;transforming acidic coiled-coil-containing protein 1 APPROVED protein-coding ENSG00000147526 HGNC:11522 10391 605301 REVIEWED 1349981 TACC2 transforming, acidic coiled-coil containing protein 2 Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q26 117480656 117746439 + 123748689 124014057 + 121989174 122254542 + 1580863;6480464;8554872 10366448;10435627;10637228;10749935;11121038;11161455;12477932;12620397;12711550;14602875;14702039;14767476;15146197;15164054;15207008;15304323;15489334;16169070;16385451;16964243;18029348;18519826;19671663;19850743;20335520;20360068;20379614;20467438;20508983;21906983;22210879;22456197;22939629;23049088;23080069;23251661 10579 B2RWP4;B7ZMJ9;D6RAA5;E7EMZ9;E9PBC6;E9PGB3;H0Y8P9;H0Y911;H0Y954;H0Y9C3;H0Y9Y7;H0YA73;O95359;Q4VXL4;Q4VXL8 ABBA01062846;ABBA01062847;ABBA01062848;ABBA01062849;ABBA01062850;ABBA01062851;AC063960;AF095791;AF176646;AF220152;AF528098;AF528099;AK027066;AK056743;AK075097;AK094848;AK095371;AK295631;AL135793;AL713712;AL731566;AL833304;AMYH02023944;AMYH02023945;AMYH02023946;AMYH02023947;AMYH02023948;BC000999;BC010219;BC015736;BC029124;BC031036;BC039311;BC141837;BC142673;BC144599;BC144600;BC150627;CH471066;CN420638;DR001720;NG_029948;NM_001291876;NM_001291877;NM_001291878;NM_001291879;NM_006997;NM_206860;NM_206861;NM_206862;R46074;XM_005269388;XM_005269389;XM_005269390;XM_005269391;XM_005269392;XM_005269393;XM_005269394;XM_005269395;XM_005269396;XM_005269397;XM_005269399;XM_006717548;XM_006717549;XM_006717550;XM_006717551;XM_006717552;XM_006717553;XM_006717554;XM_006717555;XM_006717556;XM_006717557;XM_006717558;XM_006717559 AAC64968;AAF29537;AAF63433;AAH00999;AAH39311;AAI44600;AAI44601;AAI50628;AAO62629;AAO62630;BAH12132;CAD28509;EAW49324;EAW49325;NP_001278805;NP_001278806;NP_001278807;NP_001278808;NP_008928;NP_996742;NP_996743;NP_996744;O95359;XP_005269445;XP_005269446;XP_005269447;XP_005269448;XP_005269449;XP_005269450;XP_005269451;XP_005269452;XP_005269453;XP_005269454;XP_005269456;XP_006717611;XP_006717612;XP_006717613;XP_006717614;XP_006717615;XP_006717616;XP_006717617;XP_006717618;XP_006717619;XP_006717620;XP_006717621;XP_006717622 Hs.501252;Hs.713875 1669901;1672178;1758181;1857582;2108953;2116660;2118206;2124556;2155438;2155440;2168075;5037552;5114403 A002B31;D10S1318E;D10S1628;D10S2403;D8S2279;G19896;RH41996;RH45823;RH46540;SHGC-147599;SHGC-31995;TACC2_9145;WI-21650 AZU-1 ECTACC;OTTHUMP00000020643;OTTHUMP00000020644;OTTHUMP00000020645;OTTHUMP00000020646;OTTHUMP00000035135;OTTHUMP00000217061;OTTHUMP00000217062;OTTHUMP00000217063;OTTHUMP00000217064;OTTHUMP00000217070;anti zuai-1;anti-Zuai-1;transforming acidic coiled-coil-containing protein 2 APPROVED protein-coding ENSG00000138162 HGNC:11523 05600 605302 REVIEWED 1353438 TACC3 transforming, acidic coiled-coil containing protein 3 This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011] 4 4 4 p16.3 1634312 1657939 + 1723217 1746905 + 1721490 1745178 + 6480464;7240710 10366448;11121038;11298601;11847113;12015314;12389629;12477932;12711550;12927788;14602875;14767476;15302935;15489334;15851029;16344560;16410616;16964243;17060449;17675670;17914111;18029348;19148534;19823035;20056645;20237422;20348956;20360068;20508983;20566684;20729911;20838383;20923838;20972438;21113414;21139048;21297582;21815251;21890473;21906983;22837387;22939629;23175443;23298836;23348690;23787465;23887685;23936413;24003142;24163127;24273164;24722188;24816145;8125298;8570611 10460 C9JA91;C9JWI7;E7EMT0;F8WC55;H0Y8F2;Q9Y6A5 AA682436;ABBA01029532;AC016773;AF093543;AF479620;AI684124;AJ243997;AK225631;AK302463;AK304579;AK310660;AMYH02008587;BC106071;BC111771;CH471131;DB098941;M63005;M63480;NM_006342;U38441;XM_005247929;XM_005247930;XM_006713855 AAD25964;AAI06072;AAI11772;AAN76993;BAG63753;BAG65367;CAB53009;EAW82574;EAW82575;NP_006333;Q9Y6A5;XP_005247986;XP_005247987;XP_006713918 Hs.104019 1670306;1675854;1695966;1699982;1775264;2144510;2150486;2186583 D4S113;RH103601;RH47676;SHGC-59556;SHGC-63615;SHGC-78926;SHGC4-824;STS-N23259 ERIC-1;ERIC1;MGC117382;MGC133242 OTTHUMP00000113796;transforming acidic coiled-coil-containing protein 3 APPROVED protein-coding ENSG00000013810 HGNC:11524 05601 109800;605303 REVIEWED 1602721 TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010] 17 17 17 q23.3 56066314 56073847 + 61678231 61685725 + 63600872 63608365 + 6480464;7240710;8699517 12477932;14702039;15489334;16189514;17207965;18029348;19503089;20727754;20877624;21139048;21832049;21890473;22939629;24583282;25027693 51204 Q8N9Q7;Q9BSH4 ABBA01035328;AC046185;AC113554;AK094052;AK315375;AL833861;AMYH02033775;BC005049;BC007744;CH471109;NG_016979;NM_016360 AAH05049;AAH07744;ADQ32448;BAC04273;BAG37768;CAD38719;EAW94302;EAW94303;EAW94304;NP_057444;Q9BSH4 Hs.174134 2177389;5015861;5020948;5022450;7185938 D10S16;D10S275;G35510;SHGC-36189 CCDC44 clone HQ0477 PRO0477p;coiled-coil domain-containing protein 44;translational activator of cytochrome c oxidase 1 APPROVED protein-coding ENSG00000136463 HGNC:24316 17421 220110;612958 REVIEWED 736836 TACR2 tachykinin receptor 2 This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq, Jul 2008] 10 10 10 q22.1 64440372 64453089 - 71163958 71176674 - 69404202 69416918 - 1580863;2304260;5147478;5147640;5147641;5147627;5147480;5147638;6480464 11342967;12490601;12662901;18715640;19583679;19880429;20175803 10189055;10862829;11786503;11906947;12427486;12477932;12742655;12801882;1370160;14702039;15294896;15452121;15690122;16344560;16385451;1659296;1659297;1661704;16754659;16893949;1710456;17402972;17448763;17503489;17532769;17703412;18051367;18203813;18219665;1845990;1848773;18601911;18835556;19086053;19258923;19375820;20503287;2173708;22474018;22733436;23142211;7721803;7961636;8307161 6865 A6NEW7;P21452 AB065731;ABBA01019607;AC016821;AF361880;AK096906;AK291996;AK300649;AMYH02023271;AY322545;BC033742;BC096842;CH471083;DA929480;FJ200479;M57414;M60284;M75105;NM_001057 AAA60347;AAB05897;AAC31760;AAH96842;AAK51938;AAP84358;ACO54876;BAC05952;BAF84685;BAG62337;EAW54324;EAW54325;NP_001048;P21452 Hs.88372 1683839;1720791;1742255;2162937 G59370;GDB:193874;RH11099;RH46959 NK-2R;NK2R;NKNAR;SKR;TAC2R NK-2 receptor;OTTHUMP00000019722;neurokinin 2 receptor;neurokinin A receptor;seven transmembrane helix receptor;substance K receptor;substance-K receptor APPROVED protein-coding ENSG00000075073 HGNC:11527 01207 162321 VALIDATED 735782 TACR3 tachykinin receptor 3 This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Jul 2008] 4 4 4 q25 101809125 101939478 - 104510625 104640973 - 103589468 103719816 - 1580863;2305929;2305980;2305984;2305951;2304256;6480464;8699517;8554872;7240710 10891623;18650316;19093101;2471579;7898759 10189055;10866201;11786503;12477932;1312036;1312928;1315051;1374246;15130944;15452121;15489334;16709596;16754659;17448763;17703412;18203813;18287949;18422838;18577758;18835556;19079066;19258923;19755480;20194706;20301509;20332099;20332248;20395662;20503287;22031817;22424618;22766261;23019350;23329188;23656837;23983264;24376026;2452993;8702757;8925404;8990205;9272936 6870 P29371;Q4VBL9 ABBA01063716;AC004065;AC105460;AMYH02009824;AMYH02009825;AMYH02009826;AY462099;BC095527;BC121806;BC122551;CH471057;M89473;NG_023344;NM_001059;S86392;X65172 AAA36366;AAB21706;AAH95527;AAI21807;AAI22552;AAR23926;CAA46291;EAX06173;NP_001050;P29371 Hs.942 1654581;1659666;2115027;2131255;2146945;2152608;2168014;2169913;2173277;2181436;2182504;2186452 AFMa070th5;D4S2650;G34495;RH70865;SHGC-23722;SHGC-23736;SHGC-23745;SHGC-23748;SHGC-23760;SHGC-50614;WI-18877;WI-9174 HH11;MGC148060;MGC148061;NK-3R;NK3R;NKR;TAC3RL NK-3 receptor;OTTHUMP00000161767;neurokinin B receptor;neurokinin beta receptor;neuromedin-K receptor;tachikin receptor 3 APPROVED protein-coding HGNC:11528 01209 162332;614840 REVIEWED 731008 TACR1 tachykinin receptor 1 This gene belongs to a gene family of tachykinin receptors. These tachykinin receptors are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. The encoded protein is also involved in the mediation of phosphatidylinositol metabolism of substance P. [provided by RefSeq, Sep 2008] 2 2 2 p12 75104880 75257954 - 75273590 75426645 - 75046463 75199519 - 2304260;2304266;2304275;2304250;2304258;2304327;2304276;2304321;1626451;2304320;2304339;2304340;5147835;5147837;5147818;5147819;5147820;5147833;5147636;5147816;5147645;5147668;5147638;5147812;5147821;5147475;5147811;5147834;6480464;6907045;8554872 12662901;12768696;12857498;15272104;16369913;16409782;17382773;17392578;17542534;17565047;18053315;18063836;18326823;18337316;18407414;18420958;18523300;18580444;18715640;18945947;19261870;19445658;19633070;19797759;20176632;21467195;8240667;8630576 10611312;10854844;11698023;11786503;11857684;11864635;11906947;11950831;12067742;12130725;12147210;12151774;12383866;12393913;12427486;12477932;12528114;12548712;12594338;12686752;12727971;12752772;1280161;12810079;1281469;1310144;1312928;1374227;14601651;15130944;15452121;15452552;15489334;15590676;15664664;15690122;16123103;16154193;16305827;16344560;1657150;1659396;16618119;16670094;16675550;16754659;16815618;16893949;16901764;17023511;17050807;1718267;1723045;17370082;17443717;17448763;17525212;17563389;17602742;17667845;17713785;17986524;18085301;18095097;18180429;18187929;18203813;18289674;18363037;18394729;18452185;18572194;18713853;1883349;18835556;19036058;19086053;19204064;19207952;19222484;19351798;19545476;19553914;19805509;19885583;19903051;20008142;20021265;20074437;20117843;20137858;20160043;20173430;20237496;20379614;20398908;20468064;20940324;21034671;21091716;21120581;21188466;21478256;21577011;21925840;21969570;22057425;22115773;22225860;22554585;22733436;23024816;23078527;23142211;23166329;23235155;23257919;23345604;23420374;23471985;23553861;23582152;23754948;23807418;23916293;23933301;23979140;24030979;24155873;24190675;24898255;2548782;7692486;7782081;8384323;8702757;8985172;9537323;9733503;9754802 6869 P25103;Q53TR1 ABBA01075616;ABBA01075617;AC007400;AC007681;AK289765;AMYH02004094;AMYH02004095;AMYH02004096;AW206679;AY462098;BC074911;BC074912;BC095528;CH471053;DB203452;KF510829;M74290;M76675;M81797;M84425;M84426;NG_029522;NM_001058;NM_015727;S62045;X65177 AAA36641;AAA36644;AAA59933;AAA59936;AAA60601;AAB20168;AAH74911;AAH74912;AAH95528;AAR23925;AAY14950;AAY15031;BAF82454;CAA46292;EAW99595;EAW99596;NP_001049;NP_056542;P25103 Hs.633301 1298185;1648477;1655782;1658414;1668344;1694750;1721591;1722357;1767365;1776290;1852827;2154451;2173307;7185556 A008C01;D2S286;G31043;G43577;G59805;G60248;RH69174;SHGC-12520;SHGC-12799;SHGC-30537;SHGC-37085;STS-T91312;WI-18908 NK-1R;NK1R;NKIR;SPR;TAC1R NK-1 receptor;OTTHUMP00000160434;OTTHUMP00000202743;neurokinin 1 receptor;substance-P receptor;tachykinin 1 receptor (substance P receptor, neurokinin 1 receptor);tachykinin receptor 1 (substance P receptor, neurokinin-1 receptor);tachykinin receptor 1 (substance P receptor; neurokinin-1 receptor) APPROVED protein-coding ENSG00000115353 HGNC:11526 01208 162323 REVIEWED 1342963 TACSTD2 tumor-associated calcium signal transducer 2 This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009] 1 1 1 p32 57324947 57327018 - 59041095 59043166 - 58575423 58577494 - 1599194;1580863;6480464;7240710;8554872;8699517 10192395 10844062;10928776;10937555;11004271;11306819;11687514;12036680;12107443;12477932;12614764;15013888;15295654;15489334;15489335;15607035;15652848;15851553;16232198;16341674;16707602;17081983;17167402;17653040;17721311;17768381;17878632;17898270;18084248;18281513;18813308;18829570;19088204;19199708;19421758;19434540;19693293;20060709;20454699;20473768;20651236;20858281;21052915;21246534;21418992;21541270;21551320;21674799;21677668;22075385;22190649;22304920;22349828;22378065;22419550;22562244;22987366;23031786;23038033;23055188;23397225;23416980;23536555;23868985;23872121;23979406;24086649;24816726;2911574;7665234;8382772;9462726;9610724 4070 P09758 ABBA01074659;AI201870;AL035411;AMYH02001095;AW052118;BC009409;BM765888;BT007255;CD722224;CH471059;CR542260;CV027795;FJ970024;GU138371;J04152;NG_016237;NM_002353;X13425;X77753 AAA52505;AAH09409;AAP35919;ABM83527;ABM86761;ACR78188;ACZ01960;CAA31781;CAA54799;CAG47056;EAX06630;NP_002344;P09758 Hs.23582 1648730;1653756;1725567;2178424;2185758 D1S2398;G62083;RH36205;RH47574;RH67868 EGP-1;EGP1;GA733;GA733-1;GA7331;GP50;M1S1;TROP2 40kD glycoprotein, identified by monoclonal antibody GA733;OTTHUMP00000011755;cell surface glycoprotein TROP2;cell surface glycoprotein Trop-2;epithelial glycoprotein-1;gastrointestinal tumor-associated antigen GA7331;membrane component chromosome 1 surface marker 1;membrane component, chromosome 1, surface marker 1;pancreatic carcinoma marker protein GA733-1;pancreatic carcinoma marker protein GA7331 APPROVED protein-coding ENSG00000184292 HGNC:11530 00672 137290;204870 REVIEWED 1606748 TADA1 transcriptional adaptor 1 TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009] 1 1 1 q24.1 139930880 139950792 - 166825747 166845654 - 166856510 166876417 - 6480464 11564863;12477932;15146197;17643375;18250150;19064610;19536175;19615732;20946988;21139048;22287124;22505724;23044487;9726987 117143 Q96BN2 ABBA01047257;AK290964;AK291922;AK309250;AK310391;AL008639;AL009182;AMYH02002079;BC015401;BC036497;CH471067;CN399642;NM_053053 AAH15401;ABZ92130;BAF83653;BAF84611;EAW90778;NP_444281;Q96BN2 Hs.435967 1663279;1735350;1857534;5125468 D3S2967E;RH16504;SGC34611;SHGC-57163 ADA1;HFI1;RP1-9E21.4;STAF42;TADA1L;hADA1 OTTHUMP00000032213;SPT3-associated factor 42 (STAF42);transcriptional adapter 1;transcriptional adapter 1-like protein;transcriptional adaptor 1 (HFI1 homolog, yeast);transcriptional adaptor 1 (HFI1 homolog, yeast)-like APPROVED protein-coding ENSG00000152382 HGNC:30631 18114 612763 VALIDATED 1320582 TADA2A transcriptional adaptor 2A Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009] 17 17 17 q12-q21 32589436 32660208 + 35766977 35839830 + 37406886 37477481 + 6480464;8554872 11707411;12034840;12477932;12660246;12972612;14702039;15489334;15932940;16189514;16299514;17207965;18059173;18206973;18250150;18838386;20508642;20602615;21988832;22644376;22939624;22990118;23044487;23503679;23535730;24722188;8125298;8552087;8972232;9073520;9154805;9488450;9649342;9674425;9792714;9885574 6871 AAB50689;B3KU13;O75478 ABBA01001365;ABBA01001366;ABBA01001367;ABBA01001368;ABBA01001369;ABBA01001370;AC004099;AC068400;AC068447;AC243654;AF064094;AF069732;AK022767;AK096371;AK225918;AL526501;BC001172;BC011753;BM470857;CD101741;CH471199;DA244842;NM_001166105;NM_001291918;NM_001488;NM_133439;XM_005257628;XM_006722043;XM_006722044;XM_006722045;XM_006722046;XM_006722047;XM_006725335;XM_006725336;XM_006725337;XM_006725338;XM_006725339 AAB50689;AAC26659;AAC39902;AAH01172;AAH11753;ADQ32174;BAG51111;BAG53275;EAW57587;EAW57588;EAW57589;EAW57590;EAW57591;NP_001159577;NP_001278847;NP_001479;NP_597683;O75478;XP_005257685;XP_006722106;XP_006722107;XP_006722108;XP_006722109;XP_006722110;XP_006725398;XP_006725399;XP_006725400;XP_006725401;XP_006725402 Hs.500066 1685161;1719987 G58932;RH93734 ADA2;ADA2A;FLJ12705;KL04P;TADA2L;hADA2 ADA2-like protein;OTTHUMP00000164062;OTTHUMP00000164063;transcriptional adapter 2-alpha;transcriptional adapter 2-like;transcriptional adaptor 2 (ADA2 homolog, yeast)-like;transcriptional adaptor 2 (ADA2, yeast, homolog)-like;transcriptional adaptor 2 alpha;transcriptional adaptor 2-like APPROVED protein-coding ENSG00000276234 HGNC:11531 03784 602276 REVIEWED 1314884 TADA3 transcriptional adaptor 3 DNA-binding transcriptional activator proteins increase the rate of transcription by interacting with the transcriptional machinery bound to the basal promoter in conjunction with adaptor proteins, possibly by acetylation and destabilization of nucleosomes. The protein encoded by this gene is a transcriptional activator adaptor and a component of the histone acetyl transferase (HAT) coactivator complex which plays a crucial role in chromatin modulation and cell cycle progression. Along with the other components of the complex, this protein links transcriptional activators bound to specific promoters, to histone acetylation and the transcriptional machinery. The protein is also involved in the stabilization and activation of the p53 tumor suppressor protein that plays a role in the cellular response to DNA damage. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 3 3 3 p25.3 9756351 9769120 - 9821648 9834695 - 9779964 9793124 - 1580863;6480464 10373431;11076863;11230166;11256614;11406595;11564863;11707411;12034840;12138191;12235159;12477932;12660246;14702039;15383276;15489334;15489336;15496419;15932940;16169070;16189514;16344560;16381901;17272277;17452980;17643375;18029348;18059173;18089809;18206973;18250150;18256148;18377363;18838386;19194825;19471022;19615732;19913121;20413580;20534441;20628086;22736770;22939629;23044487;23167988;23288344;23443559;23455924;9674419;9674425;9885574 10474 A8K899;C9JMS0;O75528 AA602644;ABBA01020400;AC022382;AF069733;AK000228;AK024982;AK292264;AL117487;AMYH02006236;BC001480;BC009240;BC013433;BG477633;BM560517;CH471055;CR533543;DB032623;NM_001278270;NM_006354;NM_133480;NR_103488;XM_006712930 AAC39903;AAH09240;AAH13433;AAI41662;ABZ92464;BAF84953;CAB55957;CAG38574;CAL37474;CAL37705;CAL37958;EAW63994;EAW63995;EAW63996;EAW63997;NP_001265199;NP_006345;NP_597814;O75528;XP_006712993 Hs.386390 2138963;2153554;5037552;5491328 D8S2279;PMC117179P1;RH78176;WI-14334 ADA3;FLJ20221;FLJ21329;NGG1;STAF54;TADA3L;hADA3 ADA3 homolog;ADA3-like protein;OTTHUMP00000158554;OTTHUMP00000158555;OTTHUMP00000207467;transcriptional adapter 3;transcriptional adapter 3-like;transcriptional adaptor 3 (NGG1 homolog, yeast)-like APPROVED protein-coding ENSG00000171148 HGNC:19422 04252 602945 REVIEWED 1349671 TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013] X X X q13.1 70939992 71039729 + 70586094 70685855 + 71366239 71530525 + 1580863;6480464;7240710;8554872;9479074;9479075;8699517 23642229;24686119 10359315;10428810;10469661;10704353;10737800;10759893;10827952;11005381;11126356;11257518;11278496;11316804;11564863;11564872;11592977;11686293;11748221;11871391;11909971;12040021;12093919;12217962;12453419;12498690;12569092;12665565;12842904;12876631;12928496;12958613;14580349;14651335;14672934;14717966;14719174;14731392;14759373;14871254;14992727;15053879;15087451;1518853;15306156;15601843;15637059;15710329;15870300;15899866;15939070;15960975;15978108;16113828;16155788;16366515;16705091;16713569;16919237;17237821;17273961;17327284;17375202;17505112;17643375;17884155;17952504;17967894;17996705;18029348;18305892;18548200;18580066;1876184;19240132;1939271;19578124;19716452;20181722;20301334;20301402;20301662;2038334;20393127;20421419;20587494;20936779;20937824;21139048;21145483;21616129;21729782;21819230;21890473;22711989;22939629;23000965;23184149;23264082;23518577;23827503;23831825;24289924;2449431;24927529;3169001;3556424;7590250;7597030;7667268;7668293;7680771;7724524;7724559;7729427;7809597;7824954;7835343;7836461;7923369;7926747;7933101;7958900;8065335;8121496;8163188;8224850;8450888;8577725;8625415;8650542;8663456;8680883;8700832;8764009;8764062;8849451;8858156;8946909;8980232;8995708;9045704;9054383;9153318;9242374;9311784;9388200;9405375;9482861;9488465;9584164;9603525;9603936;9660973;9674425;9751712;9765293;9858607;9880542;9926939 6872 H0Y8N6;H0Y9L7;H7BY98;H7C2K9;P21675 AB209316;AB300418;ABBA01067726;ABBA01067727;ABBA01067728;ABBA01067729;ABBA01067730;ABBA01067731;ABBA01067732;ABBA01067733;ABBA01067734;ABBA01067735;ABBA01067736;ABBA01067737;ABBA01067738;ABBA01067739;ABBA01067740;ABBA01067741;ABBA01067742;ABBA01067743;ABBA01067744;ABBA01067745;ABBA01067746;ABBA01067747;ABBA01067748;ABBA01067749;ABBA01067750;ABBA01067751;ABBA01067752;ABBA01067753;ABBA01067754;ABBA01067755;ABBA01067756;AJ549245;AJ549246;AJ549247;AJ549248;AJ549249;AJ549250;AJ555148;AJ555149;AK310201;AL590762;AL590763;AM711892;AM711893;AM711894;AM711895;AMYH02039673;AMYH02039674;AMYH02039675;AMYH02039676;AW937788;AY623109;BP284702;BQ027170;CH471132;D90359;M73444;NG_012771;NM_001286074;NM_004606;NM_138923;NR_104387;NR_104388;NR_104389;NR_104390;NR_104391;NR_104392;NR_104393;NR_104394;NR_104395;NR_104396;R66536;X07024;XM_005262295;XM_005262296;XM_005262297;XM_005262300;XM_006724680;XM_006724681;XM_006724682 AAI72427;AAT38105;BAA14374;BAD92553;BAG15901;CAA30073;CAD70488;CAD70489;CAD70490;CAD70491;CAD70492;CAD70493;CAD87527;CAD87528;CAM98555;CAM98556;CAM98557;CAM98558;EAX05291;EAX05292;EAX05293;EAX05294;EAX05295;NP_001273003;NP_004597;NP_620278;P21675;XP_005262352;XP_005262353;XP_005262354;XP_005262357;XP_006724743;XP_006724744;XP_006724745 Hs.158560 1340611;1702044;1702946;1722889;1767353;1791085;1791087;1791089;1850578;2107651;2131380;2148394;2167497;2181358;2218074;5121492;5125989 DXS7117;DXS7119;DXS7502;DXS8030;G60539;GDB:192491;RH172;RH46036;SGC34215;TAF1L_3640;TAF1_3469.2;TAF2A2-1;TAF2A2-2;TAF2A2-3;TAFII250;UniSTS:99087;WIAF-2170 BA2R;CCG1;CCGS;DYT3;DYT3/TAF1;KAT4;N-TAF1;NSCL2;OF;P250;TAF(II)250;TAF2A;TAFII-250;TAFII250;XDP OTTHUMP00000024334;OTTHUMP00000024335;TBP-associated factor 250 kDa;cell cycle gene 1 protein;cell cycle, G1 phase defect;complementation of cell cycle block, G1-to-S;transcription factor TFIID p250 polypeptide;transcription initiation factor TFIID 250 kDa subunit;transcription initiation factor TFIID subunit 1 APPROVED protein-coding ENSG00000147133 HGNC:11535 02436 313650;314250 REVIEWED 2979550 TADA2B transcriptional adaptor 2B TADA2B functions as a transcriptional adaptor protein that potentiates transcription through coordination of histone acetyltransferase (HAT) activity and by linking activation factors to basal transcriptional machinery (Barlev et al., 2003 [PubMed 12972612]).[supplied by OMIM, Apr 2010] 4 4 4 p16.1 6948574 6963098 + 7045156 7059679 + 7043429 7057952 + 6480464 12477932;12972612;14702039;18838386;18936164;19615732;20379614;20534441;21139048;22505724;24163370;24250222 93624 D6RC20;D6RJ05;Q86TJ2 ABBA01012737;AC097382;AK026299;AK093974;AK096655;AK126966;AMYH02008679;BC013164;BC047794;BC064337;BC078156;BC101334;BC101335;BC101336;BC101337;BX641147;BX648428;CH471131;NM_152293 AAH47794;AAI01335;AAI01336;AAI01337;AAI01338;BAG52792;BAG53348;BAG54411;CAE46064;EAW82372;NP_689506;Q86TJ2 Hs.518614 1682281;1797152;2115427;2175778;2176731;5024756;5037552;5106856 D8S2279;G01889;G34299;MGC21874;RH80030;SHGC-59597;SHGC-67698;SHGC-8603 ADA2(beta);ADA2B;MGC21874 ADA2-beta;ADA2-like protein beta;OTTHUMP00000217249;OTTHUMP00000217250;OTTHUMP00000217254;transcriptional adapter 2-beta;transcriptional adaptor 2 (ADA2 homolog, yeast)-beta APPROVED protein-coding ENSG00000173011 HGNC:30781 608790 VALIDATED 1314218 TAF10 TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs. [provided by RefSeq, Jul 2008] 11 11 11 p15.3 6751139 6752511 - 6632048 6633475 - 6610817 6612244 - 1580863;6480464 10373431;10469660;11406595;11438666;11564863;12477932;12601814;12660246;12762840;14499622;14580349;15099517;15115762;15489334;15870280;16169070;16415881;17375202;17599049;17643375;17709345;17884155;17967894;18029348;18206972;18206973;18250150;19240132;1939271;20106982;20457598;21729782;22323595;22834489;22939629;23827503;2449431;7680771;7729427;7744009;7835343;7836461;7923369;7933101;8121496;8530084;8598193;8680883;8764009;8764062;8849451;8946909;9054383;9153318;9154123;9212049;9405375;9603525;9674425;9885574 6881 Q12962 ABBA01028670;AC091564;AF498312;AL833496;AMYH02024271;BC012088;BM990572;CH471064;CR541943;NG_008653;NG_029702;NM_006284;U13991;U25816 AAA62230;AAB61242;AAH12088;AAM14627;CAG46741;EAW68687;NP_006275;Q12962 Hs.5158 1651801;1652942;1775056;1793068;1795150;1795152;1850592;2115101;2131904;2217488 A002C40;ILK_2854;PMC193924P6;PMC99905P1;PMC99905P2;RH12375;RH36325;RH70892;WI-11808;WI-22555 STAF28;TAF(II)30;TAF2A;TAF2H;TAFII-30;TAFII30 OTTHUMP00000164586;TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD;transcription initiation factor TFIID 30 kD subunit;transcription initiation factor TFIID 30 kDa subunit;transcription initiation factor TFIID subunit 10 APPROVED protein-coding HGNC:11543 15972 600475 REVIEWED 1313766 TAF11 TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 6 6 6 p21.31 36399987 36410256 - 34845555 34855908 - 34877778 34888071 - 1580863;6480464 10591645;10744685;11689552;11827452;12477932;14574404;14580349;15489334;15502823;16344560;17375202;17884155;17967894;19240132;19322201;1939271;20211142;21729782;21832049;22581228;2449431;7729427;7835343;7836461;7933101;8121496;8670810;8680883;8764009;8764062;8820923;8849451;8946909;9045704;9054383;9108034;9153318;9159119;9311784;9405375;9488465;9584164;9603525;9632676;9695952 6882 Q15544 ABBA01038211;ABBA01038212;ABBA01038213;ABBA01038214;AF118094;AI755269;AK302226;AK313475;AL033520;AMYH02013530;AY217767;BC021972;BT019404;BT019405;BX538195;BX647568;CR542068;D63705;DA153455;NM_001270488;NM_005643;X83928 AAF22038;AAH21972;AAO25652;AAV38211;AAV38212;ABM84165;ABM87568;BAA23620;BAG36260;BAG63580;CAA58780;CAG46865;NP_001257417;NP_005634;Q15544 Hs.112444 1672791;1678539;1771465;2110767;2142064;2169383 RH25717;RH46827;SGC32109;SHGC-35399;TAF11_3477;WI-16899 MGC:15243;PRO2134;TAF2I;TAFII28 OTTHUMP00000016241;TAF(II)28;TAFII-28;TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD;TFIID subunit p30-beta;transcription initiation factor TFIID 28 kD subunit;transcription initiation factor TFIID 28 kDa subunit;transcription initiation factor TFIID subunit 11 APPROVED protein-coding ENSG00000064995 HGNC:11544 15980 600772 REVIEWED 1348553 TAF12 TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2008] 1 1 1 p35.3 27325365 27365501 - 28929608 28975416 - 28603096 28643101 - 1580863;6480464 10594036;11406595;11438666;11564863;11564872;11689552;12237304;12477932;12601814;12660246;14580349;15489334;15601843;15637059;15735663;15932940;16494529;16710414;17264123;17268553;17884155;17967894;18029348;18838386;19240132;19322201;1939271;19635797;22323595;23426901;24250222;2449431;24654937;7667268;7729427;7835343;7836461;7933101;8121496;8598932;8647459;8663456;8680883;8764009;8764062;8849451;8889548;8946909;9045704;9054383;9133630;9311784;9405375;9603525;9674425;9885574 6883 Q16514 ABBA01035046;ABBA01035047;ABBA01035048;ABBA01035049;ABBA01035050;ABBA01035051;AK310097;AL360012;AL513497;AL840644;AMYH02000632;AMYH02000633;AY206865;BC011986;BE787487;BM676557;BT007031;BX095156;CH471059;CX865268;D50544;NM_001135218;NM_005644;U57693;X84002;XM_005245978;XM_005245979;XM_006710860;XM_006710861 AAC50600;AAC50601;AAH11986;AAO13491;AAP35678;ABM84665;ABM92197;BAA09112;CAA58826;EAX07680;EAX07681;EAX07682;EAX07683;NP_001128690;NP_005635;Q16514;XP_005246035;XP_005246036;XP_006710923;XP_006710924 Hs.530251 1647820;1852816 RH67949;SHGC-30964 TAF2J;TAFII20 OTTHUMP00000003785;OTTHUMP00000003786;TAFII-20/TAFII-15;TAFII20/TAFII15;TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD;transcription initiation factor TFIID 20/15 kDa subunits;transcription initiation factor TFIID subunit 12 APPROVED protein-coding ENSG00000120656 HGNC:11545 15981 600773 REVIEWED 1343397 TAF13P1 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor pseudogene 1 6 6 6 q14.3-q15 88554151 88554572 - 88135334 88135755 - 87425616 87426037 - 246112 ABBA01040494;AL049697;AMYH02014053;NG_001573 TAF13P APPROVED pseudo HGNC:18699 INFERRED 1313406 TAF13 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 107876546 107888009 - 109606998 109618624 - 109064376 109076002 - 1580863;6480464 11438666;12477932;12878157;15489334;16710414;17375202;17643375;17884155;18029348;19240132;1939271;21729782;21906983;22939629;2449431;7729427;7835343;7836461;7933101;8121496;8680883;8764009;8764062;8849451;8946909;9054383;9311784;9405375;9488465;9695952 6884 Q0VA92;Q15543 ABBA01068365;ABBA01068366;ABBA01068367;AK312158;AMYH02001704;AU280379;AV713996;BC121180;BC121181;BG675152;BX679664;CH471122;NM_005645;X84003 AAI21181;AAI21182;BAG35092;CAA58827;EAW56354;EAW56355;NP_005636;Q15543 Hs.632426 1724377 RH122712 MGC22425;TAF(II)18;TAF2K;TAFII-18;TAFII18 OTTHUMP00000039343;OTTHUMP00000039344;TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD;transcription initiation factor TFIID 18 kD subunit;transcription initiation factor TFIID 18 kDa subunit;transcription initiation factor TFIID subunit 13 APPROVED protein-coding HGNC:11546 600774 REVIEWED 3050998 TAF13P2 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa pseudogene 2 2 2 2 74409403 74409736 + 74578213 74578546 + 74351086 74351419 + 100462886 ABBA01075600;AC005041;AMYH02004090;NG_021566 pseudo HGNC:38161 INFERRED 1313879 TAF1A TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011] 1 1 1 q42 195950756 195982347 - 222730990 222763438 - 222557902 222590096 - 6480464 10894955;10913176;11163245;11250901;11250903;12393749;12477932;12511607;12783858;14702039;15113842;15136563;15226435;15315821;15489334;15723054;16710414;17251981;17268553;17318177;19246067;19615732;21139048;23455924;7801123;8013460;8889548;9050847 9015 A8K4K5;B4DS21;Q15573;Q5JRA7 ABBA01048047;AK001054;AK290970;AK299536;AK307882;AK315740;AL592148;AMYH02002747;AX875929;BC013808;CH471100;CN479053;L39060;NM_001201536;NM_005681;NM_139352;XM_005273343;XM_006711612;XM_006711613 AAA62862;AAH13808;ABM82007;ABM85189;BAA91482;BAF83659;BAG38095;BAG61483;CAE89061;EAW93271;EAW93272;EAW93273;NP_001188465;NP_005672;NP_647603;Q15573;XP_005273400;XP_006711675;XP_006711676 Hs.153088 1661260;1687351;2171240;5020948;5037552;5109281;5126791 D1S1425;D8S2279;G35510;RH17651;RH78913;RH93891;SHGC-36982 MGC:17061;RAFI48;SL1;TAFI48 OTTHUMP00000035653;OTTHUMP00000035654;OTTHUMP00000035655;RNA polymerase I-specific TBP-associated factor 48 kDa;SL1, 48kD subunit;TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD;TATA box-binding protein-associated factor 1A;TATA box-binding protein-associated factor RNA polymerase I subunit A;TBP-associated factor 1A;transcription factor SL1;transcription initiation factor SL1/TIF-IB subunit A APPROVED protein-coding ENSG00000143498 HGNC:11532 05362 604903 REVIEWED 1320016 TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 17 17 17 q11.1-q11.2 31046770 31084502 + 34136459 34174246 + 35809455 35847242 + 1580863;1599281;6480464;7240710;8699517 10602519 12183049;12359745;12477932;15066997;15094065;15324660;15635413;15782174;16051612;16344560;17361185;18330902;18620564;19124016;19135240;19282884;19426707;19454010;19783543;20048082;20360068;20379614;21078624;21145461;21344536;21438137;21504714;21729782;21856723;21890473;21906983;21988832;22019700;22053931;22065782;22454397;22586326;22771914;22939629;23049996;23128393;23862649;24055347;24332808;24457600;7835343;7836461;7933101;8121496;8598932;8663456;8680883;8764009;8764062;8849451;8890175;8954779;9054383;9488465;9660765;9795213;9885574 8148 Q92804 AB010067;ABBA01011235;ABBA01011236;ABBA01011237;AC015849;AC244100;AI351964;AK304520;AK307637;AK313223;AK314194;AMYH02033354;AMYH02033355;AY197697;BC030591;BC039129;BC046099;BC048985;BG403710;CH471147;DB166653;NG_023279;NM_003487;NM_139215;U51334;X98893 AAC50932;AAH46099;AAO13485;BAA33811;BAA33812;BAG36034;BAG36873;BAG65324;CAA67398;EAW80124;EAW80125;EAW80126;EAW80127;NP_003478;NP_631961;Q92804 Hs.402752 1683833;1738975;1778686;2107649;2186844 D17S1601;RH16499;RH47008;RH70664;TAF15_7913 Npl3;RBP56;TAF2N;TAFII68;hTAFII68 68 kDa TATA-binding protein-associated factor;RBP56/CSMF fusion;RNA-binding protein 56;TAF(II)68;TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56);TATA box-binding protein-associated factor 2N (RNA-binding protein 56);TATA-binding protein-associated factor 2N;TBP-associated factor 15 APPROVED protein-coding ENSG00000270647 HGNC:11547 09031 601574;612237 REVIEWED 8656643 TAF1A-AS1 TAF1A antisense RNA 1 1 1 1 195982393 195985234 + 222763301 222765823 + 222589169 222592596 + 100506161 ABBA01048047;AL592148;AMYH02002747;DA202557;HG493243;HY020214;NR_110613;NR_110614;XR_110838;XR_112005;XR_171250;XR_425084;XR_426907;XR_431350 Hs.553851 ncrna HGNC:40573 VALIDATED 1313816 TAF1C TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011] 16 16 16 q24 68513270 68522472 - 84211453 84220676 - 84177847 84187070 - 1580863;6480464 10894955;10913176;11250901;11250903;11698641;12107410;12393749;12477932;12646563;14702039;15226435;15489334;15723054;15970593;16055704;16344560;17268553;17318177;19615732;20663923;20800603;21900206;21906983;21963094;22589738;22843504;7801123;9050847;9582279 9013 B3KUE8;F5H647;H3BMQ4;H3BNH3;H3BQH8;H3BQZ8;H3BR71;H3BR91;H3BTQ6;H3BUZ7;Q15572 AB209594;ABBA01016918;AC009123;AK097031;AK299060;AK299347;AK304261;AK304739;AK315982;AMYH02032562;AU130229;AY158985;BC028131;CA397963;CH471114;DC376588;DC377529;HI574118;HI574120;L39059;NM_001243156;NM_001243157;NM_001243158;NM_001243159;NM_001243160;NM_005679;NM_139353;XM_005256226;XM_005256227;XM_006721325;XM_006721326;XM_006721327;XM_006721328;XM_006721329 AAA62861;AAH28131;AAN38818;ADZ15702;BAD92831;BAG53410;BAH12941;BAH13010;BAH14144;BAH14248;BAH14353;CBX47548;CBX47549;EAW95495;EAW95496;EAW95497;EAW95498;EAW95499;NP_001230085;NP_001230086;NP_001230087;NP_001230088;NP_001230089;NP_005670;NP_647610;Q15572;XP_005256283;XP_005256284;XP_006721388;XP_006721389;XP_006721390;XP_006721391;XP_006721392 Hs.153022 1663283;1689396;1769711;1771768 RH17650;RH65170;RH69603;SHGC-60617 MGC:39976;SL1;TAFI110;TAFI95 RNA polymerase I-specific TBP-associated factor 110 kDa;SL1, 110kD subunit;TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD;TATA box-binding protein-associated factor 1C;TATA box-binding protein-associated factor RNA polymerase I subunit C;TBP-associated factor 1C;transcription factor SL1;transcription initiation factor SL1/TIF-IB subunit C APPROVED protein-coding ENSG00000103168 HGNC:11534 05364 604905 REVIEWED 1601854 TAF1D TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009] 11 11 11 q21 90760547 90766156 - 93463368 93474703 - 93735929 93741537 - 6480464;8554872 12477932;14702039;15489334;15520167;16169070;17207965;17318177;19615732;21386990;21890473;21900206 79101 E9PKU8;E9PM59;H0Y3L3;H0YCH2;H0YG36;H0YH71;Q9H5J8 ABBA01040043;AF086435;AF275800;AK027016;AK057183;AK128061;AMYH02025366;AP001273;BC001972;BQ774057;CH471065;CR457369;DW450227;NM_024116 AAG23815;AAH01972;ADQ31841;BAB15628;CAG33650;EAW66912;EAW66913;EAW66914;NP_077021;Q9H5J8 Hs.355750 1668602;1675686;1754157;2147584 D11S4346;D11S4684;RH35;SHGC-132183 FLJ23363;FLJ32621;FLJ46181;JOSD3;MGC5306;RAFI41;TAF(I)41;TAFI41 Josephin domain containing 3;OTTHUMP00000235965;RNA polymerase I-specific TBP-associated factor 41 kDa;TATA box-binding protein-associated factor 1D;TATA box-binding protein-associated factor RNA polymerase I subunit D;TBP-associated factor 1D;transcription initiation factor SL1/TIF-IB subunit D APPROVED protein-coding HGNC:28759 14679 612823 VALIDATED 1354016 TAF1L TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq, Aug 2009] 9 9 9 p21.1 32560665 32566880 - 32629452 32635667 - 32629454 32635669 - 1580863;6480464;8554872 12217962;12477932;15489334;17643375;20467438;21890473;22658931;22939629;23000965 138474 Q8IZX4 ABBA01065079;AF390562;AL589642;AMYH02019412;BC116181;BC116182;NM_153809 AAI72227;AAN40840;NP_722516;Q8IZX4 Hs.591086 1791085;1791087;1791089;1791091;2167497;2218074 TAF1L_3640;TAF2A2-1;TAF2A2-2;TAF2A2-3;TAF2A2-4;WIAF-2170 MGC134910;TAF2A2 OTTHUMP00000215933;TAF(II)210;TBP-associated factor 1-like;TBP-associated factor 210 kDa;TBP-associated factor RNA polymerase 1-like;transcription initiation factor TFIID 210 kDa subunit;transcription initiation factor TFIID subunit 1-like APPROVED protein-coding ENSG00000122728 HGNC:18056 09696 607798 PROVISIONAL 1314966 TAF1B TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. [provided by RefSeq, Jul 2008] 2 2 2 p25 9899495 9990471 + 9983571 10074545 + 9843442 9934416 + 6480464 10894955;10913176;11073993;11250901;11250903;12140758;12393749;12477932;12511607;12646563;12783858;15136563;15489334;15561719;15723054;15815621;16195249;16344560;17179179;17318177;17456004;17884155;19503063;19615732;19953087;20379614;21139048;21832049;21890473;21906983;21921198;21921199;21988832;23000965;23535732;23602568;24250222;7801123;9050847;9582279 9014 F8WDU0;F8WE32;Q53T94;U3KQ75 AA746267;ABBA01015596;ABBA01015597;AC010969;AK026521;AK295402;AK308070;AK309751;AK315098;AMYH02003259;AMYH02003260;BC018137;CA423871;CH471053;DA910748;L39061;NM_005680 AAA62863;AAH18137;AAX93272;ABM85585;BAG58354;EAX00974;EAX00975;EAX00976;NP_005671;Q53T94 Hs.584833 1664559;1690346;1700990;1848301;1857433 RH104122;RH46460;RH66818;RH70089;WI-14767 MGC:9349;RAF1B;RAFI63;SL1;TAFI63 OTTHUMP00000200348;RNA polymerase I-specific TBP-associated factor 63 kDa;SL1, 63kD subunit;TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD;TATA box-binding protein-associated factor 1B;TATA box-binding protein-associated factor RNA polymerase I subunit B;TBP-associated factor 1B;transcription initiation factor SL1/TIF-IB subunit B APPROVED protein-coding ENSG00000115750 HGNC:11533 05363 604904 REVIEWED 1353856 TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008] 8 8 8 q24.12 116932070 117034135 - 120743014 120845074 - 119730774 119832863 - 6480464;8699517;7240710;8554872 10373431;10409744;10469661;11337467;11406595;11564863;12477932;12601814;14580349;14702039;14729963;15489334;15870300;16009940;16083285;17081983;17643375;17884155;17967894;18235501;19240132;19322201;19336002;20811636;21139048;21729782;21906983;22939629;23518577;23667531;23827503;24084144;24515614;7597030;7680771;7801123;7835343;7836461;7933101;8121496;8680883;8764009;8764062;8849451;9054383;9418870;9726987;9765300;9774672 6873 B3KMD8;E5RI28;H0YB55;H0YC37;H0YEX2;Q6P1X5 ABBA01037818;ABBA01037819;ABBA01037820;ABBA01037821;AC021945;AC107960;AF026445;AF040701;AF057694;AK001618;AK001909;AK316592;AL137601;AMYH02018679;AU098502;BC008473;BC018010;BC035673;BC047732;BC064830;CH471060;NG_033911;NM_003184;XM_006716621 AAC02966;AAC13540;AAC68502;AAH35673;AAH47732;AAH64830;AAI46380;BAG38179;BAG50950;BAG50991;CAB70836;EAW91991;EAW91992;EAW91993;NP_003175;Q6P1X5;XP_006716684 Hs.122752 1657055;1711032;1721029;1855748;2140197;2219738 G17201;G31435;G59496;SHGC-82884;TAF2_3470;WI-13446 CIF150;MRT40;TAF2B;TAFII150 150 kDa cofactor of initiator function;OTTHUMP00000228190;RNA polymerase II TBP-associated factor subunit B;TAF(II)150;TAFII-150;TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD;TBP-associated factor 150 kDa;cofactor of initiator function, 150kD subunit;transcription initiation factor TFIID 150 kDa subunit;transcription initiation factor TFIID subunit 2 APPROVED protein-coding ENSG00000064313 HGNC:11536 07060 604912;615599 REVIEWED 1323524 TAF3 TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009] 10 10 10 p15.1 7786469 7982025 + 7860467 8057016 + 7818504 8015053 + 6480464 11438666;12477932;14702039;15164054;15302935;15489334;15870280;17081983;17643375;17704303;17884155;17975119;18549481;19023099;19240061;19240132;20808825;20953165;21729782;21884934;22939629;23382691;23402259;23452851;23935956;7835343;7836461;7933101;8121496;8680883;8764009;8764062;8849451;9054383 83860 Q5VWG9 ABBA01034731;ABBA01034732;ABBA01034733;ABBA01034734;ABBA01034735;AJ292190;AK123254;AK307521;AK307657;AL117661;AL159172;AL353754;AL390294;AMYH02022086;AMYH02022087;AMYH02022088;AMYH02022089;BC017320;BC024661;BC028077;BC045106;BC062352;BC073884;BC105593;KF455201;NM_031923 AAH17320;AAH45106;AAH62352;AAH73884;AAI05594;AAI72366;CAB56032;CAC34475;NP_114129;Q5VWG9 Hs.527688;Hs.709995 1341987;1674314;1722021;1731066;1767753;1770119 D10S282;D7S482;G59897;RH69727;SHGC-33903;WIAF-2158 MGC25063;TAF140;TAFII-140;TAFII140 140 kDa TATA box-binding protein-associated factor;OTTHUMP00000019072;RNA polymerase II transcription factor TAFII140;TAF(II)140;TBP-associated factor 3;transcription initiation factor TFIID 140 kDa subunit;transcription initiation factor TFIID subunit 3 APPROVED protein-coding HGNC:17303 606576 VALIDATED 1319196 TAF4B TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014] 18 18 18 q11.2 20617414 20782254 + 23806409 23971649 + 26226445 26391685 + 1580863;6480464;6907045;8699517;7240710;8554872 10828057;10849440;11567023;12477932;15601843;16088961;17884155;18029348;18206971;19020761;1939271;19508998;19635797;20353996;21729782;22589738;23585552;2449431;24653979;7835343;7836461;7933101;8121496;8680883;8764009;8764062;8849451;8858156;8946909;9054383;9405375;9724652 6875 J3KTH2;Q92750 AB234096;ABBA01022575;ABBA01022576;ABBA01022577;ABBA01022578;ABBA01022579;ABBA01022580;ABBA01022581;AC016839;AC022069;AC121320;AK302593;AMYH02034453;AMYH02034454;AY888048;AY888049;BC016360;BC032791;CH471088;NG_034162;NM_001293725;NM_005640;NR_121653;XM_005258339;XM_005258340;XM_006722528;Y09321 AAX14897;AAX14898;BAF51561;BAG63845;CAA70499;EAX01217;EAX01218;NP_001280654;NP_005631;Q92750;XP_005258396;XP_005258397;XP_006722591 Hs.369519 1696886;2132037;2181444;5126654 RH70966;SHGC-53854;SHGC-64852;g01503rbk SPGF13;TAF2C2;TAFII105 TAF(II)105;TAFII-105;TATA box binding protein (TBP)-associated factor 4B;TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD;transcription initiation factor TFIID 105 kD subunit;transcription initiation factor TFIID 105 kDa subunit;transcription initiation factor TFIID subunit 4B APPROVED protein-coding ENSG00000141384 HGNC:11538 601689;615841 REVIEWED 1345040 TAF4 TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 57285893 57375966 - 60549854 60640866 - 61974798 62065810 - 1580863;6480464;6907045;8554872 10373431;10409662;10594036;11406595;11564863;11564872;11687654;11780052;11959914;11988536;12237304;12601814;12665565;12771217;12810884;14580349;14702039;15333839;15601843;15641800;15703171;15735663;15960975;17643375;17884155;17967894;18029348;18206971;19240132;19322201;1939271;19635797;19851296;20198315;20379614;20557936;21729782;22268729;22323595;22939629;23326574;23518577;23827503;24098348;24250222;2449431;24816145;25027693;7729427;7835343;7836461;7933101;8121496;8680883;8764009;8764062;8849451;8858156;8942982;8946909;9054383;9153318;9192867;9311784;9405375;9418870;9603525;9674425;9742090 6874 O00268;V9GY03;V9GY14 ABBA01040109;ABBA01040110;ABBA01040111;ABBA01040112;AK123937;AL109911;AL137077;AMYH02037408;AMYH02037409;AMYH02037410;AMYH02037411;AMYH02037412;AY623115;CH471077;KF456986;NM_003185;U75308;Y11354 AAC50901;AAI67776;AAT38111;CAA72189;EAW75406;EAW75407;NP_003176;O00268 Hs.18857 1664421;1664423;1679405;1757649;2110769 A005V13;G20531;RH91308;SHGC-146135;TAF4_3471 FLJ41943;TAF2C;TAF2C1;TAF4A;TAFII130;TAFII135 OTTHUMP00000031446;OTTHUMP00000031447;RNA polymerase II TBP-associated factor subunit C;TAF(II)130;TAF(II)135;TAF4A RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135 kD;TAFII-130;TAFII-135;TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD;TBP-associated factor 4;transcription initiation factor TFIID 130 kDa subunit;transcription initiation factor TFIID 135 kD subunit;transcription initiation factor TFIID 135 kDa subunit;transcription initiation factor TFIID subunit 4 APPROVED protein-coding ENSG00000130699 HGNC:11537 11797 601796 REVIEWED 1322729 TAF5 TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. [provided by RefSeq, Jul 2008] 10 10 10 q24-q25.2 98867655 98888755 + 105127724 105148822 + 103367967 103389065 + 1580863;6480464 10373431;10523658;11406595;11564863;12477932;12601814;12660246;14580349;15053879;15489334;15637059;15870280;15899866;17227857;17375202;17643375;17884155;17967894;17996705;18029348;19240132;1939271;20953165;21145461;21729782;22323595;22696218;22834489;22939629;23827503;23974872;24250222;24489103;2449431;7680771;7744009;7835343;7836461;7933101;8121496;8125298;8680883;8758937;8764009;8764062;8849451;8858156;8884287;8942982;8946909;9045704;9054383;9153318;9311784;9405375;9488465;9603525;9674425 6877 Q15542 ABBA01063100;ABBA01063101;ABBA01063102;ABBA01063103;AK223615;AK291229;AL591408;AMYH02023724;AW136916;BC052268;BC136340;BC136348;BG290312;CH471066;NM_006951;U75309;U80191;X95525 AAC50902;AAC51215;AAH52268;AAI36341;AAI36349;BAD97335;BAF83918;CAA64777;EAW49645;EAW49646;NP_008882;Q15542 Hs.96103 1659364 RH47040 TAF2D;TAFII100 OTTHUMP00000020402;TAF(II)100;TAFII-100;TATA box binding protein (TBP)-associated factor 2D;TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD;transcription initiation factor TFIID 100 kD subunit;transcription initiation factor TFIID 100 kDa subunit;transcription initiation factor TFIID subunit 5 APPROVED protein-coding ENSG00000148835 HGNC:11539 11876 601787 REVIEWED 1320985 TAF5L TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 202996790 203029673 - 229728858 229761794 - 229593111 229626047 - 1580863;6480464 10373431;11124703;11406595;11564863;12477932;12601814;12660246;15489334;15932940;16126174;16206511;16672693;16829519;17207965;17476304;17643375;18206972;18250150;19322201;19615732;20211142;20946988;21890473;21900206;21906983;21963094;21987572;22505724;22939629;23000965;23620142;24163370;9674419;9674425;9885574 27097 O75529;Q5TDI7 ABBA01009827;ABBA01009828;AF069736;AI251746;AJ009770;AL121990;AMYH02002872;AMYH02002873;BC001569;BC041094;BE646579;CH471098;NM_001025247;NM_014409;XM_005273099;XM_005273100;XM_005273101 AAC39906;AAH41094;ADQ33004;CAA08816;EAW69902;EAW69903;NP_001020418;NP_055224;O75529;XP_005273156;XP_005273157;XP_005273158 Hs.270621 1683663;1704080;1716273;2142190 G13251;RH103367;RH121164;SHGC-83350 PAF65B OTTHUMP00000037470;OTTHUMP00000037471;PAF65-beta;PCAF associated factor 65 beta;PCAF-associated factor 65 beta;TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L APPROVED protein-coding ENSG00000135801 HGNC:17304 11619 REVIEWED 5508554 TAF5LP1 TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa pseudogene 1 17 17 17 q12 30735375 30736340 + 33825235 33826200 + 35498216 35499181 + 645744 ABBA01011230;AC015911;AMYH02033349;NG_022466 1724977 RH118776 HsT33855;TAF5LP pseudo HGNC:24115 INFERRED 1323155 TAF6 TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 7 7 7 q22.1 94439352 94452642 - 99704693 99717481 - 100107070 100119858 - 1580863;6480464 10523658;11406595;11564863;11583621;11689552;12453419;12477932;12601814;12665565;12690205;12829691;14580349;14702039;15099517;15302935;15328371;15489334;15601843;15641800;15870280;15899866;15960975;16344560;16964243;17375202;17643375;17846119;17884155;17967894;18029348;18628956;19240132;1939271;20096117;20457814;20946988;20953165;21139048;21653943;21729782;21832049;22323595;22696218;22834489;22939629;23000965;23827503;24250222;2449431;7597030;7644498;7667268;7680771;7835343;7836461;7926747;7933101;8121496;826207;8262073;8680883;8764009;8764062;8849451;8858156;8946909;9045704;9054383;9133630;9153318;9177216;9311784;9405375;9584164;9603525;9611234;9674425;9792714 6878 A4D299;C9J088;C9J7C4;C9JFL8;C9JHQ8;C9JI39;C9JIS2;C9JTY6;E5RHA1;E5RKA5;F8WEJ7;J3KR72;P49848 ABBA01013237;ABBA01013238;AC073842;AK097781;AK300005;AK314428;AK315077;AMYH02016371;AU143362;AY149894;BC018115;BC127819;CH236956;CH471091;CR627390;CX782724;DA150478;DA707589;DA776355;DC339989;L25444;NG_029454;NM_001190415;NM_005641;NM_139315;NR_033792;U31659;XM_006716100;XM_006716101;XM_006716102 AAA63643;AAA84390;AAH18115;AAN10295;ABM82538;ABM85730;BAG53526;BAG61823;CAH10485;EAL23851;EAL23852;EAL23853;EAW76588;EAW76589;EAW76590;EAW76591;EAW76592;NP_001177344;NP_005632;NP_647476;P49848;XP_006716163;XP_006716164;XP_006716165 Hs.489309 1668168;2141173 RH68321;STS-F01487 DKFZp781E21155;MGC:8964;TAF(II)70;TAF(II)80;TAF2E;TAFII-70;TAFII-80;TAFII70;TAFII80;TAFII85 OTTHUMP00000206641;OTTHUMP00000206714;OTTHUMP00000206716;OTTHUMP00000206752;OTTHUMP00000214590;RNA polymerase II TBP-associated factor subunit E;TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD;transcription initiation factor TFIID 70 kDa subunit;transcription initiation factor TFIID subunit 6 APPROVED protein-coding ENSG00000106290 HGNC:11540 11807 602955 REVIEWED 1320845 TAF6L TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq, Jul 2008] 11 11 11 q12.3 59867457 59883398 + 62538775 62554814 + 62771303 62787342 + 1580863;6480464 11406595;11564863;12477932;12601814;12660246;14702039;15489334;15964547;16189514;16713569;17643375;18400184;18714023;19615732;21139048;21906983;21963094;21988832;23383273;23667531;24778252;9674419;9674425;9885574 10629 A8K0D4;E9PK90;E9PLV8;E9PP94;Q9Y6J9 ABBA01003244;ABBA01003245;ABBA01003246;AF069735;AK289499;AK301145;AK310054;AK314330;AMYH02024898;AMYH02024899;AP001160;BC008785;CH471076;DC311213;NM_006473;XM_005273714 AAC39905;BAF82188;BAG36977;BAG62736;EAW74093;EAW74094;EAW74095;EAW74096;NP_006464;Q9Y6J9;XP_005273771 Hs.714400 1671776;1677812;1738141;2130106;2138616;2191193 D11S3762;MARC_16035-16036:1017162020:1;RH66483;RH91818;STS-N52143;STS-W92041 FLJ11136;MGC4288;PAF65A OTTHUMP00000236345;PAF65-alpha;PCAF-associated factor 65 alpha;PCAF-associated factor 65-alpha;TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L;p300/CBP-associated factor (PCAF)-associated factor 65 APPROVED protein-coding ENSG00000162227 HGNC:17305 04253 602946 REVIEWED 1320545 TAF7 TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq, Jul 2008] 5 5 5 q31 136774883 136777177 - 140698057 140700351 - 141318490 141320784 - 1580863;6480464 10409738;10896937;11005381;11230163;11340078;11438666;11564863;11592977;12477932;12665565;12676957;14580349;15078871;15099517;15489334;15893730;15899866;15960975;16407123;16415881;17081983;17320040;17643375;17884155;18029348;18391197;19240132;20211142;20937824;21139048;21729782;21890473;21900206;21988832;22323595;22424883;22711989;22939629;23000965;23027873;24250222;24816145;24927529;7824954;7835343;7836461;7933101;8012384;8121496;8680883;8702684;8764009;8764062;8794892;8849451;9045704;9054383;9153318;9311784;9488465;9603525;9632676 6879 Q15545;Q8TBD8 ABBA01026417;AC005618;AF349038;AK314837;AMYH02012344;BC013397;BC022798;BC032737;CH471062;NG_000012;NM_005642;U18062;X97999;Z65839;Z65840 AAB60347;AAH22798;AAH32737;AAK30585;ABM81815;ABM84970;BAG37356;CAA66636;EAW61966;NP_005633;Q15545 Hs.438838 1654264;1680407;2125345;2162496 D5S2599;RH80950;SGC31525;STS-U18062 TAF2F;TAFII55 OTTHUMP00000160028;RNA polymerase II TBP-associated factor subunit F;TAF(II)55;TAFII-55;TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD;TBP-associated factor F;transcription factor IID subunit TAFII55;transcription initiation factor TFIID 55 kDa subunit;transcription initiation factor TFIID subunit 7;transcription initiation factor TFIID, 55 kDa subunit APPROVED protein-coding ENSG00000178913 HGNC:11541 07196 600573 REVIEWED 1350801 TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q22.1 101042015 101067533 - 100523241 100548059 - 101268253 101293071 - 6480464 11279525;12477932;12665565;16344560;16597641;17643375;17714218;18029348;21832049;23292864;23602568 54457 Q5H9L4 ABBA01044958;ABBA01044959;ABBA01044960;ABBA01044961;ABBA01044962;AF285595;AK026810;AK308261;AL109801;AMYH02040066;BC043391;CH471115;DB042169;DB455298;NG_016220;NM_001168474;NM_024885;XM_005262151;XM_005262152;XM_006724664;Z68331 AAH43391;AAK31974;BAB15560;EAX02847;EAX02848;EAX02849;EAX02850;EAX02851;EAX02852;NP_001161946;NP_079161;Q5H9L4;XP_005262208;XP_005262209;XP_006724727 Hs.223806 1683938;1852111;2142680;2218078;5107165 D20S151;DXS9715;G65769;RH92089;TAF7L_3597 CT40;FLJ23157;TAF2Q;dJ738A13.1 OTTHUMP00000023673;OTTHUMP00000023674;OTTHUMP00000023675;RNA polymerase II TBP-associated factor subunit Q;TATA box-binding protein-associated factor 50 kDa;TBP-associated factor, RNA polymerase II, Q;cancer/testis antigen 40;transcription initiation factor TFIID 50 kDa subunit;transcription initiation factor TFIID subunit 7-like APPROVED protein-coding ENSG00000102387 HGNC:11548 02259 300314 REVIEWED 1314621 TAF9 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (GeneID: 102157402) are two distinct genes that share 5' exons. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 5 5 5 q13.2 65650213 65668504 - 68647551 68665840 - 69364743 69370013 - 1580863;5490520;6480464;6907045 16167529 10191103;10449590;10810093;10821850;10931946;11005381;11278372;11406595;11564863;12101418;12453419;12477932;12601814;12660246;12837753;14580349;15081896;15489227;15489334;15601843;15641800;15899866;15932940;15960975;16079131;16169070;16189514;16713569;17081983;17636026;17643375;17884155;17967894;18250150;19240132;19251649;1939271;19471022;19615732;19643037;20186459;20195357;20946988;21139048;21693764;21729782;21832049;21890473;21963094;21988832;22053931;22505724;22696218;22939629;23000965;23246961;2449431;24816145;7597030;7667268;7761466;7809597;7835343;7836461;7933101;8121496;8401585;8680883;8764009;8764062;8849451;8946909;9045704;9054383;9153318;9171108;9177216;9405375;9611234;9674425;9792714;9885574 6880 D6RDH4;D6RGK3;D6RHW1;D6RIE8;D6RIV9;D6RIY1;Q16594 ABBA01048275;AC145132;AC145145;AI879232;AMYH02011474;AY189986;BC003400;BC007349;BC033320;BG490028;BG720149;BT019652;CH471137;CX784292;NM_001015892;NM_003187;U21858;U25112;U30504 AAA84389;AAA91318;AAC50153;AAH03400;AAH07349;AAH33320;AAN84793;AAV38458;ACE86721;ACE87407;EAW51290;EAW51291;EAW51292;EAW51293;EAW51294;EAW51295;EAW51296;EAW51297;NP_001015892;NP_003178;Q16594 Hs.653163 1645777;1656007;1745157;2171644;5117897 G27424;GDB:595828;GDB:631813;SHGC-31594;STS-AA031332 AD-004;AK6;CGI-137;CIP;MGC1603;MGC3647;MGC5067;MGC:1603;MGC:3647;MGC:5067;STAF31/32;TAF2G;TAFII-31;TAFII-32;TAFII31;TAFII32;TAFIID32 AK/ATPase;ATP-AMP transphosphorylase 6;CINAP;OTTHUMP00000125186;OTTHUMP00000125196;OTTHUMP00000222137;OTTHUMP00000222138;OTTHUMP00000222139;OTTHUMP00000222140;OTTHUMP00000222141;OTTHUMP00000222142;OTTHUMP00000222143;OTTHUMP00000223056;RNA polymerase II TBP-associated factor subunit G;adenylate kinase 6;adenylate kinase isoenzyme 6;adrenal gland protein AD-004;coilin interacting nuclear ATPase protein;coilin interacting protein;coilin-interacting nuclear ATPase protein;dual activity adenylate kinase/ATPase;hCINAP;transcription initiation factor TFIID 31 kD subunit;transcription initiation factor TFIID 31 kDa subunit;transcription initiation factor TFIID 32 kDa subunit;transcription initiation factor TFIID subunit 9 APPROVED protein-coding ENSG00000085231;ENSG00000273841 HGNC:11542 15983 600822 VALIDATED 1318181 TAF8 TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 43570718 43601096 + 42018251 42055093 + 42050513 42080906 + 1580863;6480464;8554872 11564872;11963920;12477932;14580349;14702039;15870280;17375202;17884155;17967894;18029348;19204726;21729782;23326349;7835343;7836461;7933101;8121496;8680883;8764009;8764062;8849451;9054383;9569032 129685 B4DZU5;C9J7M8;C9J856;Q7Z7C8 ABBA01050738;AF086309;AF465841;AK057383;AK303097;AL512274;AL513008;AL833401;AMYH02013616;BC018796;BC033728;BC119678;BC119679;BI828714;CH471081;NM_138572;XM_005248847;XM_005248849 AAI19679;AAI19680;AAP47094;BAB71460;BAG64207;EAX04078;EAX04079;EAX04080;NP_612639;Q7Z7C8;XP_005248904;XP_005248906 Hs.520122 1698472;1700542;5015861;5015867;5015961;5016851;5020948;5022578;5037552;5109281;5120437;7185938 D10S16;D15S1477;D1S1423;D1S1425;D8S2279;G35510;GDB:312714;GDB:315881;RH102785;RH103892;RH80031 43;FLJ32821;II;TAF;TAFII-43;TAFII43;TBN OTTHUMP00000016392;OTTHUMP00000216829;OTTHUMP00000216830;OTTHUMP00000216831;OTTHUMP00000216832;TAF(II)43;TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa;TBP-associated factor 43 kDa;TBP-associated factor 8;TBP-associated factor TAFII43;TBP-associated factor, RNA polymerase II, 43 kD;hTAFII43;protein taube nuss;taube nuss homolog;transcription initiation factor TFIID 43 kDa subunit;transcription initiation factor TFIID subunit 8 APPROVED protein-coding ENSG00000137413 HGNC:17300 18167 609514 REVIEWED 1351331 TAF9B TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is similar to one of the small subunits of TFIID, TBP-associated factor 9, and is also a subunit of TFIID. TAF9 and TAF9b share some functions but also have distinct roles in the transcriptional regulatory process. [provided by RefSeq, Jul 2008] X X X q13.1-q21.1 77626326 77636254 - 77385245 77396490 - 78129748 78140998 - 1580863;6480464 10721692;12477932;12837753;15489334;15772651;15899866;16189514;17643375;17884155;18206973;20211142;21832049;22505724;22939629;7761466 51616 Q9HBM6 ABBA01029563;ABBA01029564;AF220509;AK074449;AK312579;AL049589;AMYH02039822;BC009566;BC010350;BC071649;BC146952;BC146960;BI544376;BX276116;CH471104;NG_012570;NM_015975;XM_005262142 AAG09711;AAH09566;AAH10350;AAH71649;AAI46953;AAI46961;ABM82854;ABM86041;BAG35473;EAW98600;EAW98601;NP_057059;Q9HBM6;XP_005262199 Hs.592248 1665552;5015619 D11S3114;STS-W61008 DN-7;DN7;TAF9L;TAFII31L;TFIID-31 OTTHUMP00000023594;TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa;TBP-associated factor 9L;neuronal cell death-related protein 7;transcription associated factor TAFII31L;transcription initiation factor IID, 31kD subunit;transcription initiation factor TFIID subunit 9-like;transcription initiation factor TFIID subunit 9B;transcription-associated factor TAFII31L APPROVED protein-coding ENSG00000187325 HGNC:17306 06739 300754 REVIEWED 4140089 TAF9BP1 TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa pseudogene 1 3 3 3 p24.2 25733262 25735912 + 25796384 25799034 + 25754893 25757543 + 246135 ABBA01025016;AC092798;AMYH02006426;NG_001574;NG_034108 pseudo HGNC:30687 INFERRED 4140113 TAF9BP2 TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa pseudogene 2 10 10 10 q25.3 110257537 110300286 + 116569132 116571056 + 114809373 114811297 + 100130319 ABBA01062972;AL137025;AMYH02023856;NG_028760 1340115;2165980 D10S2390;D10S528 pseudo HGNC:38836 INFERRED 1603488 TAF9P1 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 1 Y Y q11.221 19740293 19741672 + 17628413 17629792 + 12815422;9847074 360002 AC007742;AC015978;AC068704;NG_004636 1730035;2188933 DYF79S1;G65983 APPROVED pseudo HGNC:31743 VALIDATED 1603487 TAF9P2 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 2 Y Y Y q11.221 5056441 5089918 + 20438166 20439381 - 18276280 18277495 - 12815422;9847074 360003 AC007241;NG_004636 1730035;2188933 DYF79S1;G65983 APPROVED pseudo HGNC:31744 VALIDATED 4109368 TAF9P3 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 3 19 19 19 q12 27221790 27222942 + 30528132 30529297 + 30037225 30038390 + 10191103 163088 ABBA01039560;AC008507;AMYH02035894;NG_001012 1745157 GDB:595828 TAF2GL pseudo HGNC:30678 INFERRED 11324 TAGLN transgelin The protein encoded by this gene is a transformation and shape-change sensitive actin cross-linking/gelling protein found in fibroblasts and smooth muscle. Its expression is down-regulated in many cell lines, and this down-regulation may be an early and sensitive marker for the onset of transformation. A functional role of this protein is unclear. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q23.2 114227663 114233128 + 117070040 117075508 + 117199324 117204792 + 1578340;1580863;6480464;6484113;8554872 15044321 11053353;11773051;12200029;12477932;12521938;1520290;15489334;16009940;17082327;17305610;17353931;17629319;18245174;18291675;18378184;18446369;1872880;19011151;19188659;19329940;19724680;19796641;19848416;19913121;20012321;20066125;20098441;20336793;20379614;20540360;20628086;20705054;20707403;21044950;21051832;21092460;21139048;21677441;21763649;21943158;22245152;22257561;22365974;22798525;22939629;23138394;23174934;23331552;23538046;23824909;24464808;24657443;7788527;8117285;8125298;9242426;9276683;9384215;9615232 6876 E9PJ32;H0YCU9;Q01995;Q5U0D2 AB209555;ABBA01039737;AC022760;AF013711;AI817828;AK223002;AK314043;AMYH02025629;AP000761;AP000892;AP005018;BC004927;BC010946;BC024296;BC041624;BC065829;BC092415;BC093050;BI830888;BT019648;BT019649;BX640723;CH471065;CR536484;CR541681;CR749612;D17409;D84342;EF445005;EF445034;M83106;M95787;NM_001001522;NM_003186;U73638 AAA58351;AAA58375;AAC21582;AAH04927;AAH10946;AAH65829;AAH92415;AAH93050;AAV38454;AAV38455;ACA06038;ACA06079;ACA06080;ACE86803;ACE87490;BAA21811;BAA21839;BAD92792;BAD96722;BAG36752;CAG38723;CAG46482;CAH18406;EAW67298;EAW67299;EAW67300;EAW67301;EAW67302;NP_001001522;NP_003177;Q01995 Hs.410977 1643922;1769534;1773929;1848049;2148116;2148118;2189501;2191785;5022043 D11S4352;D11S4428;MARC_7595-7596:996687990:1;MARC_7597-7598:992008547:1;RH18036;RH47219;SHGC-34343;STS-M95787;Tagln DKFZp686B01212;DKFZp686P11128;SM22;SMCC;TAGLN1;WS3-10 22 kDa actin-binding protein;OTTHUMP00000234990;OTTHUMP00000234991;OTTHUMP00000234992;OTTHUMP00000234994;OTTHUMP00000234995;OTTHUMP00000234996;SM22-alpha;smooth muscle protein 22-alpha;transgelin variant 2 APPROVED protein-coding ENSG00000149591 HGNC:11553 02891 600818 REVIEWED 1318496 TAGAP T-cell activation RhoGTPase activating protein This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013] 6 6 6 q25.3 160103877 160114037 - 159455500 159466184 - 159034468 159045152 - 1580863;6480464 12477932;14574404;14702039;15177553;15489334;16344560;16375659;17207965;18311140;18356936;18805825;19073967;19240061;19693089;19898481;20190752;20647273;20854658;21102463;21298027;21390051;21833088;22127930;22190364;23044675;23128233;23453471;23898208;24390342;24582067 117289 Q8N103 ABBA01021072;AF385429;AF385430;AK025272;AK057193;AK097090;AL035530;AL832662;AMYH02014863;BC015859;BC111731;CH471051;DA819174;HI574104;HI574106;HI574108;NG_011524;NM_001278733;NM_054114;NM_138810;NM_152133 AAH15859;AAI11732;AAM43830;AAM43831;ADQ31625;BAB71378;BAC04947;CBX47541;CBX47542;CBX47543;EAW47637;EAW47638;EAW47639;NP_001265662;NP_473455;NP_620165;NP_687034;Q8N103 Hs.529984 2177451;2218080 RH66776;TAGAP_3287 ARHGAP47;FKSG15;FLJ32631;FLJ39771;IDDM21;MGC133247;MGC27381;TAGAP1 OTTHUMP00000017514;OTTHUMP00000017515;OTTHUMP00000017516;T-cell activation GTPase-activating protein;T-cell activation Rho GTPase-activating protein APPROVED protein-coding ENSG00000164691 HGNC:15669 18143 609667 REVIEWED 1346933 TAGLN2P1 transgelin 2 pseudogene 1 8 8 8 q23.1 103896624 103897237 - 107709655 107710268 - 106697427 106698040 - 100418887;493620 ABBA01037690;AC090579;AMYH02018574;NG_026067 pseudo HGNC:21739 INFERRED 1321972 TAGLN2 transgelin 2 The protein encoded by this gene is similar to the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The specific function of this protein has not yet been determined, although it is thought to be a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013] 1 1 1 q21-q25 132956342 132963724 - 159887897 159895332 - 159918107 159925542 - 1580863;6480464 10942595;12477932;12665801;15489334;16021519;16710414;17353931;17676665;18029348;18854154;19056867;19135240;19190083;19471022;19615732;19738201;19848416;20360068;20736409;21139048;21319273;21378409;21577206;21832049;21890473;21906983;21963094;21988832;22304920;22365974;22412018;22623428;22626270;22766685;22939629;22990118;23000965;23504277;23527717;23874603;24332808;24583282;24816145;7788527;8619474;8889548;9110174;9693045 8407 P37802;X6RJP6 ABBA01016617;AI270594;AJ844624;AK291562;AK298654;AL513485;AMYH02002018;AY007127;BC002616;BC009357;CD051174;CF128621;CH471121;CR542126;CR542136;D21261;GU727636;NM_001277223;NM_001277224;NM_003564 AAG01993;AAH02616;AAH09357;ABM82841;ABM86026;ADU87638;BAA04802;BAF84251;BAH12838;CAG46923;CAG46933;EAW52759;EAW52760;EAW52761;EAW52762;EAW52763;NP_001264152;NP_001264153;NP_003555;P37802 Hs.517168 1682381;1689141;1729099;1858229;5124121 D8S1914;RH25344;RH68227;RH68257;Tagln2 HA1756;KIAA0120 OTTHUMP00000024407;OTTHUMP00000024408;OTTHUMP00000024409;OTTHUMP00000024410;SM22-alpha homolog;epididymis tissue protein Li 7e;transgelin-2 APPROVED protein-coding ENSG00000158710 HGNC:11554 06864 604634 REVIEWED 1344353 TAGLN2P2 transgelin 2 pseudogene 2 8 8 8 p12 29066250 29066864 - 30107021 30107635 - 30249505 30250119 - 493621;642319 ABBA01023671;AC090820;AMYH02017713;NG_022383 1786764;2112016;2112268 D8S2136;D8S2252;SHGC-155520 pseudo HGNC:31039 INFERRED 1348892 TAGLN3 transgelin 3 INVOLVED IN central nervous system development (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; arsenite(3-); cisplatin 3 3 3 q13.2 110116666 110131815 + 111717586 111732735 + 111998739 112013888 + 68819;634083;1580863;6480464 11238712;8015377 10931946;12107411;12477932;14506410;15489334;15781144;17207965;21139048;22939629 29114 C9J5W6;C9JCX3;H7C5N2;Q9UI15 ABBA01061669;AC060225;AF087855;AF112201;AF303058;AK315289;AMYH02007436;BC015329;BG912462;BI752099;BI822856;BI919263;BM894229;BQ640029;BT007408;CH471052;CK003985;NM_001008272;NM_001008273;NM_013259 AAF17189;AAH15329;AAL09330;AAP36076;AAP97165;ADQ32423;EAW79685;EAW79686;EAW79687;NP_001008273;NP_001008274;NP_037391;Q9UI15 Hs.169330 1685786 RH79989 NP22;NP24;NP25 OTTHUMP00000214655;OTTHUMP00000214656;OTTHUMP00000214657;OTTHUMP00000214660;neuronal protein 22;neuronal protein NP25;transgelin-3 protein-coding ENSG00000144834 HGNC:29868 12136 607953 VALIDATED 1351744 TAL2 T-cell acute lymphocytic leukemia 2 This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-cell receptor beta-chain locus on chromosome 7 have been associated with activation of the T-cell acute lymphocytic leukemia 2 gene and T-cell acute lymphoblastic leukemia. [provided by RefSeq, Mar 2009] 9 9 9 q32 78929895 78930550 + 108418562 108425393 + 105662457 105663112 + 1599285;1580863;6480464 1763056 12477932;12567187;1450410;15164053;15489334;19448620;20125193;20211142;21971700;22589738;24086757;7957052;8152805;9242638 6887 Q16559 AA767775;ABBA01042813;AL158070;AMYH02021399;BC069422;BC126373;BC126375;CH471105;M81078;NM_005421;S69377 AAA60613;AAC60629;AAH69422;AAI26374;AAI26376;ADR82810;EAW59002;NP_005412;Q16559 Hs.247978 2107655;2126681;2220422 TAL2_7884;UniSTS:481740;UniSTS:494824 TAL-2 OTTHUMP00000021840;T-cell acute lymphocytic leukemia protein 2;class A basic helix-loop-helix protein 19 APPROVED protein-coding ENSG00000186051 HGNC:11557 01735 186855 REVIEWED 1315543 TAL1 T-cell acute lymphocytic leukemia 1 ENCODES a protein that exhibits chromatin binding; E-box binding; enzyme binding; INVOLVED IN basophil differentiation; erythrocyte differentiation; megakaryocyte differentiation; ASSOCIATED WITH Autosomal dominant inheritance (inferred); Melanoma (inferred); T-cell lymphoma/leukemia (inferred); FOUND IN histone deacetylase complex; Lsd1/2 complex; nuclear chromatin; INTERACTS WITH arsane; arsenic atom; arsenite(3-) 1 1 1 p32 45968230 45981708 - 47681962 47697938 - 47216290 47232266 - 1578342;1580863;6480464;8699517;8554872 1311214 10383400;10490830;10688671;10866689;11118214;11904294;12010791;12091340;12239153;12477932;12704079;12867998;1396592;1450410;1453013;14651981;14715640;14729962;14970264;15086455;15383276;15677454;15920471;15923636;15961517;16007160;16298389;16407974;16621969;16710414;16763211;16778171;16849639;17460775;17474147;17503961;17507663;17878155;17910069;17962192;18187418;18436863;18439091;18495761;18550854;1886719;19406989;19497860;19527627;19587703;1964581;19785037;19865112;19913121;20028976;20140202;20603019;20628086;20855495;21179004;21407147;21474105;21571218;21647153;21937587;21988832;2230650;22310283;2247063;22773876;22897851;22982397;2303035;23327922;23448994;23698277;23857984;24040098;24200685;24249258;24395799;24470145;2602361;2740341;7568177;7678994;7833471;7957052;8078932;8084606;8159721;8414504;8423803;8437851;8576241;8889548;9111058;9171354;9209374;9242638;9507011;9819382;9824680 6886 P17542;Q16509 ABBA01050828;AJ131016;AL135960;AMYH02000969;BC144215;BQ186967;CH471059;JC009140;KF495937;M61103;M61104;M61105;M61108;M63572;M63576;M63584;M63589;N71056;NM_001287347;NM_001290403;NM_001290404;NM_001290405;NM_001290406;NM_003189;S53245;S53678;S53686;X51990;X58621;X58622;X58623;XM_005271158;XM_005271159;XM_005271160;XM_006710862;XM_006710863 AAA36599;AAA36600;AAB19683;AAI60033;CAA36246;CAA41476;CAA41477;CAA41478;CAB72103;CAB72254;CDL93504;EAX06875;EAX06876;EAX06877;NP_001274276;NP_001277332;NP_001277333;NP_001277334;NP_001277335;NP_003180;P17542;XP_005271215;XP_005271216;XP_005271217;XP_006710925;XP_006710926 Hs.705618;Hs.737706 1659091;1671179;1790251;2108955;2156171;2160000;2168903;5014992 D1S3714;G15927;KS609;RH65838;SGC35290;SHGC-74785;SHGC-74795;TAL1_265 SCL;TCL5;bHLHa17;tal-1 OTTHUMP00000009563;OTTHUMP00000009564;T-cell acute lymphocytic leukemia protein 1;T-cell leukemia/lymphoma protein 5;class A basic helix-loop-helix protein 17;stem cell protein;tal-1 product protein-coding ENSG00000162367 HGNC:11556 01753 187040 VALIDATED 733188 TALDO1 transaldolase 1 Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis. [provided by RefSeq, Jul 2008] 11 11 11 p15.5-p15.4 815308 828130 + 747417 765024 + 747432 765024 + 737673;1599574;1599293;1580863;1641814;1300048;1641803;6480464;6907045;7240710;8554872;8699517 11283793;12721358;2843500;8477719;9339383 10702296;10869557;12477932;14702349;15231747;15383276;15489334;16092052;16130169;17081983;17095351;17503352;17603756;18331807;18498245;18687684;18781797;18805652;19471022;19738201;20194725;20600873;21044950;21062960;21139048;21319273;21890473;21906983;21963094;22053931;22510381;22863883;22939629;23000965;23315216;23736541;24583282;24654937;24816145;7964452;8300619;9119412;9524206 6888 E9PKI8;E9PM01;F2Z393;P37837 ABBA01015208;ABBA01015209;AF010398;AF010399;AF010400;AF058913;AK295537;AK313427;AMYH02024152;AP006621;BC009680;BC010103;BC018847;CH471158;L19437;L27346;NG_008160;NM_006755;U62747 AAB53943;AAC51151;AAC52068;AAF40478;AAH10103;AAH18847;AAL31313;BAG36219;BAG58447;EAX02377;EAX02378;EAX02379;NP_006746;P37837 Hs.438678 1737665;1754077;2153887;2173763 D11S3271;RH36444;SHGC-12900;SHGC-132114 TAL;TAL-H;TALH OTTHUMP00000164441;OTTHUMP00000229014;TALDOR;dihydroxyacetone transferase;glycerone transferase;transaldolase APPROVED protein-coding ENSG00000177156 HGNC:11559 03640 602063;606003 REVIEWED 1353384 TALDO1P1 transaldolase 1 pseudogene 1 1 1 1 p32.3 53277753 53278581 + 54990059 54990887 + 54524386 54525214 + 8300619;9119412;9339383 6889 ABBA01074714;AC099796;AMYH02001054;NG_009424 TAL-H;TALDOP1 TALDO APPROVED pseudo HGNC:11560 INFERRED 1602301 TAMM41 TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) ENCODES a protein that exhibits phosphatidate cytidylyltransferase activity (ortholog); INVOLVED IN cardiolipin biosynthetic process (ortholog); FOUND IN extrinsic component of mitochondrial inner membrane (ortholog); INTERACTS WITH bicalutamide; copper atom; copper(0) 3 3 3 p25.2 11767171 11823599 - 11831916 11888393 - 11790442 11846919 - 6480464 11230166;12477932;14702039;15489334;19237595;20379614;20877624;21314694;8889548 132001 B4E101;G3V0F3;H7C1A2;Q96BW9 ABBA01025211;ABBA01025212;AC090939;AC090958;AK024271;AK092776;AK126587;AK295839;AK303598;AK309733;AK310993;AL136788;AL561371;AL561480;AMYH02006278;BC015088;BM678701;CH471055;DB475191;FB336607;HH767946;NM_001284401;NM_138807;NR_104314;XM_005264873;XM_005264875;XM_006712973;XM_006712974;XR_427250 AAH15088;ACE86998;ACE87687;BAG58649;BAG64613;CAR81248;CBX84726;EAW64108;EAW64109;EAW64110;EAW64111;EAW64112;EAW64113;EAW64114;NP_001271330;NP_620162;Q96BW9;XP_005264930;XP_005264932;XP_006713036;XP_006713037 Hs.475472 1672691;2124056;5021357 RH16544;SHGC-33256;SHGC-76720 C3orf31;DKFZp434E0519;MGC16471;RAM41;TAM41 MMP37-like protein, mitochondrial;OTTHUMP00000160158;OTTHUMP00000207657;OTTHUMP00000209386;mitochondrial translocator assembly and maintenance protein 41 homolog APPROVED protein-coding ENSG00000144559 HGNC:25187 14452 614948 VALIDATED 1603312 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 INVOLVED IN in utero embryonic development (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 17 17 17 q23.3 55475137 55893299 + 61043913 61505067 + 62966552 63427706 + 6480464;8554872 10574461;10997877;12477932;14702039;22360420;24148822;24255178 26115 J3KRP9;J3KTM5;J3QQY7;J3QRF0;Q9HCD6 AB032974;AB046856;ABBA01035332;ABBA01035333;ABBA01035334;ABBA01035335;AC005828;AC005972;AC006270;AC015923;AC037445;AJ278120;AK001077;AK021886;AMYH02033769;AMYH02033770;AMYH02033771;AMYH02033772;AMYH02033773;BC144357;NM_025185;XM_005257201;XM_005257203;XM_006721806;XM_006721807;XM_006721808;XM_006721809;XM_006721810;XM_006721811 AAI72364;BAA86462;BAB13462;CAB92314;NP_079461;Q9HCD6;XP_005257258;XP_005257260;XP_006721869;XP_006721870;XP_006721871;XP_006721872;XP_006721873;XP_006721874 Hs.410889 1341417;1688925;1689013;1695166;1710878;1736702;1773737;1775428;1846869;2122918;2155515;2158848;2163295 D17S1520E;D17S1658;D17S2141;D17S944;G29280;G48223;RH36028;RH36316;RH65819;RH91989;RH92289;SHGC-84218;STS-R63740 DKFZp564D166;FLJ10215;FLJ11824;KIAA1148;KIAA1636;rols ROLSA;putative ankyrin-repeat containing protein;rolling pebbles homolog B;tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2 protein-coding ENSG00000170921 HGNC:30212 615047 VALIDATED 1604561 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 INVOLVED IN dendritic spine maintenance (inferred); myoblast fusion (inferred); visual learning (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN axon terminus (inferred); cell junction (inferred); dendrite (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 2 2 2 q24.2 153441921 153703650 + 159825146 160089170 + 158968634 159232659 + 6480464;8554872 11214970;12107410;12477932;14702039;15673434;16344560;21139048;21658281;21739571 85461 B9EK39;Q9C0D5 AA773835;AB051515;ABBA01004858;ABBA01004859;ABBA01004860;AC009307;AC010093;AK000401;AK023422;AK094285;AK123161;AK128859;AK308899;AL833258;AMYH02005063;AMYH02005064;AMYH02005065;AMYH02005066;AMYH02005067;BC037329;BC150597;BX648238;BX648327;CA394398;CH471058;DA226268;KF510767;NM_001145909;NM_033394;XM_005246918;XM_005246919;XM_006712809;XM_006712810;XM_006712811;XM_006712812;XM_006712813;XM_006712814 AAH37329;AAI50598;BAB21819;EAX11417;EAX11418;NP_001139381;NP_203752;Q9C0D5;XP_005246975;XP_005246976;XP_006712872;XP_006712873;XP_006712874;XP_006712875;XP_006712876;XP_006712877 Hs.61590 1340229;1688618;1708492;1718441;1718481;1719263;1723235;2116495;2141380;2172220;5022578 D1S1423;D2S1757;D2S2370;D2S2866;RH122301;RH122421;RH122442;RH123353;RH99080;SHGC-79488;STS-AA031631 FLJ13360;FLJ41166;KIAA1728;ROLSB;TANC OTTHUMP00000204699;TPR domain, ankyrin-repeat and coiled-coil-containing;rolling pebbles homolog B;tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1 protein-coding ENSG00000115183 HGNC:29364 18146 611397 VALIDATED 1606243 TANGO6 transport and golgi organization 6 homolog (Drosophila) ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; copper atom 16 16 16 q22.1 53386815 53628410 + 68877456 69119085 + 68843553 69085182 + 6480464;8554872 11214970;12421765;12477932;14702039;21906983;21963094;22053931;22939629 79613 B3KTB6;J3KT80;J3QL82;Q9C0B7 AB051533;ABBA01025506;ABBA01025507;ABBA01025508;ABBA01025509;ABBA01025510;ABBA01025511;ABBA01025512;ABBA01025513;AC009027;AC009082;AC009137;AK022750;AK095333;AMYH02032265;AMYH02032266;AMYH02032267;AMYH02032268;AMYH02032269;BC001813;BC001839;BC015617;BC092500;BQ005531;CH471092;NM_024562;XR_243424 BAB14224;BAB21837;BAG53028;EAW83246;NP_078838;Q9C0B7 Hs.13526 1335963;1339318;1651227;1657317;1755917;1769411;1769440;2170999;2220576;5016478;7184479 D16S3067;D16S3322;D16S496;G17913;GDB:434012;SHGC-142749;SHGC-6072;SHGC-61165;T03595;UniSTS:485528 FLJ12688;KIAA1746;TMCO7 transmembrane and coiled-coil domain-containing protein 7;transmembrane and coiled-coil domains 7;transport and Golgi organization 6 homolog;transport and Golgi organization protein 6 homolog APPROVED protein-coding ENSG00000103047 HGNC:25749 VALIDATED 1606461 TANGO2 transport and golgi organization 2 homolog (Drosophila) ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A 22 22 22 q11.21 3859834 3904651 + 20004554 20053449 + 20017000 20065926 + 6480464;8554872 12477932;14702039;15461802;15489334;16344560;19322201;22939629;24250222 128989 A8K1E7;A8MWT1;B7Z4A5;B7Z4V5;B7Z6W2;B7Z9Q5;C9J695;C9JC99;C9JDT9;C9JKN2;F8WDT9;Q6ICL3 AA969089;ABBA01005396;ABBA01005397;ABBA01005398;AC005663;AC006547;AK092484;AK289862;AK295210;AK297075;AK297922;AK298593;AK301054;AK301366;AK309398;AK311676;AK316020;AK316056;AL713640;AMYH02038055;BC041339;BI544307;BI911898;BU173566;BX345246;CF552364;CH471176;CR456355;CR627452;DA176876;DC303300;DC318353;DC332363;HY135099;NM_001283106;NM_001283116;NM_001283129;NM_001283148;NM_001283154;NM_001283179;NM_001283186;NM_001283199;NM_001283215;NM_001283235;NM_001283248;NM_152906;NR_104274;NR_104275;XM_005261222;XM_005261223;XM_005261227;XM_005261228;XM_006724126;XM_006724127;XM_006724128;XM_006724129;XM_006724130;XM_006724131;XR_430400 AAH41339;BAC03902;BAF82551;BAH12013;BAH12491;BAH12691;BAH12819;BAH13398;BAH13466;BAH14391;BAH14427;CAD28454;CAG30241;CAH10533;CAK54496;CAK54795;EAX03001;EAX03002;EAX03003;EAX03004;EAX03005;EAX03006;NP_001270035;NP_001270045;NP_001270058;NP_001270077;NP_001270083;NP_001270108;NP_001270115;NP_001270128;NP_001270144;NP_001270164;NP_001270177;NP_690870;Q6ICL3;XP_005261279;XP_005261280;XP_005261284;XP_005261285;XP_006724189;XP_006724190;XP_006724191;XP_006724192;XP_006724193;XP_006724194 Hs.474233 1683611;1734282;2112416;5017433;5023273;5024761;5037552;5093002 A009D48;D22S1602;D22S933;D8S2279;G32462;RH36905;RH93311;STS-T76997 C22orf25;DKFZp761P1121 OTTHUMP00000197694;OTTHUMP00000197696;OTTHUMP00000197697;OTTHUMP00000197727;OTTHUMP00000197729;OTTHUMP00000197731;OTTHUMP00000198369;hypothetical protein LOC128989;transport and Golgi organization 2 homolog;transport and Golgi organization protein 2 homolog;uncharacterized protein C22orf25 APPROVED protein-coding ENSG00000183597 HGNC:25439 13229 VALIDATED 734196 TANK TRAF family member-associated NFKB activator The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 2 2 2 q24-q31 155605253 155704471 + 161993438 162092687 + 161136927 161236176 + 1580863;6480464;6907045 10490605;10581243;10759890;11279055;12005438;12133833;12477932;14499357;14517219;14743216;15327770;15489334;16189514;16336209;16914100;17081983;17327220;17468758;17568778;17823124;17878343;19262425;19453261;19573080;19773279;19913121;20184394;20331378;20484576;20562859;20568250;20628086;20644899;20972266;21139048;21212807;21625535;21832049;21890473;21903422;21906983;21963094;21988832;22079989;22225470;22261722;22310353;22330071;22505724;22589738;23007157;23251661;23286385;23372041;23428248;23509613;23524849;23634849;23722424;25015289;8710854;8855313 10010 B2R7S3;E7EM55;E7EMT6;E7ENY2;E7EQA9;E7ERM9;E7EV32;E7EVA2;E7EW82;E7EWR8;E9PEK1;H7BZ28;H7C3L4;Q6NW12;Q92844 ABBA01004880;ABBA01004881;ABBA01004882;ABBA01004883;AC009299;AC009313;AC078943;AK313096;AMYH02005087;BC003388;BC067779;BT009855;CH471058;NM_001199135;NM_004180;NM_133484;U59863;U63830;XM_005246206;XM_005246207;XM_005246208;XM_005246210;XM_005246211 AAC50681;AAC50770;AAH03388;AAH67779;AAP88857;AAX88939;AAY14785;BAG35920;EAX11374;EAX11375;EAX11376;EAX11377;NP_001186064;NP_004171;NP_597841;Q92844;XP_005246263;XP_005246264;XP_005246265;XP_005246267;XP_005246268 Hs.132257 1652551;1691008;1691010;1708252;1734988;2106685;2155972;2157106;2163451 A004C35;A008B36;D2S1727E;RH36437;RH46464;RH91209;RH93471;SHGC-79389;TANK_3754 I-TRAF;TRAF2 ITRAF;OTTHUMP00000162915;OTTHUMP00000200692;OTTHUMP00000200693;OTTHUMP00000200694;OTTHUMP00000200695;OTTHUMP00000200696;OTTHUMP00000200698;OTTHUMP00000200700;OTTHUMP00000200703;OTTHUMP00000200704;TRAF family member-associated NF-kappa-B activator;TRAF-interacting protein;traf family member-associated nf-kappa b activator APPROVED protein-coding ENSG00000136560 HGNC:11562 04870 603893 REVIEWED 1351729 TAOK2 TAO kinase 2 This gene encodes a serine/threonine protein kinase that is involved in many different processes, including, cell signaling, microtubule organization and stability, and apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 16 16 16 p11.2 72792142 72810504 - 29985188 30003583 + 29973867 29992261 + 1299457;6480464;6484113;6907045;7240533;8554872 20626350;9786855 10048485;10497253;10660600;11279118;12421765;12477932;12639963;12665513;12975309;13679851;14702039;15146197;15342556;16893890;17158878;17396146;18029348;19242545;21139048;21906983;22683681;23585562;24250222;24722188;24816145 9344 Q9UL54 AB020688;ABBA01013110;AC093512;AC243947;AC244166;AF061943;AF263313;AI805725;AK057589;AK291473;AK304446;AL137701;AMYH02031826;AY358942;BC015204;BC031825;BC051798;BC054495;BC136653;BC136655;BC142663;BC144344;BC151221;BC152413;BP233788;CH471238;CN286840;NG_030462;NM_001252043;NM_004783;NM_016151 AAD45616;AAG38503;AAH15204;AAH31825;AAH51798;AAI36654;AAI36656;AAI42664;AAI44345;AAI51222;AAI52414;AAQ89301;BAA74904;BAF84162;BAG65265;CAB70882;EAW79963;EAW79964;EAW79965;NP_001238972;NP_004774;NP_057235;Q9UL54 Hs.291623 1687223;1698924 RH103031;RH99036 KIAA0881;MAP3K17;PSK;PSK-1;PSK1;PSK1-BETA;TAO1;TAO2;hKFC-C OTTHUMP00000162989;OTTHUMP00000162990;kinase from chicken homolog C;prostate derived STE20-like kinase PSK;prostate-derived STE20-like kinase 1;prostate-derived sterile 20-like kinase 1;serine/threonine-protein kinase TAO2;thousand and one amino acid protein 2;thousand and one amino acid protein kinase;thousand and one amino acid protein kinase 2 APPROVED protein-coding ENSG00000149930 HGNC:16835 18147 613199 REVIEWED 1351422 TAOK1 TAO kinase 1 ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN cellular response to DNA damage stimulus; execution phase of apoptosis; positive regulation of JNK cascade; PARTICIPATES IN p38 MAPK signaling pathway; mitogen activated protein kinase signaling pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (S)-nicotine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 17 17 17 q11.2 24578467 24732052 + 27717943 27878921 + 29390925 29551903 + 6480464;6484113;6907045;7240533;8554872 20626350 10497253;10718198;10737800;11733138;12107410;12477932;13679851;14517247;14702039;14976552;15302935;16407310;16893890;16964243;17081983;17396146;17417629;17900936;18029348;18187620;18216281;19056867;19110211;19820697;19904549;20162290;20562859;21139048;21900206;21906983;21963094;22075148;22139419;22423221;22505724;22939629;23455922;23585562;24026423;8889548;9786855 57551 J3QS76;Q7L7X3 AB037782;ABBA01015016;ABBA01015017;ABBA01015018;ABBA01015019;ABBA01015020;ABBA01015021;ABBA01015022;ABBA01015023;ABBA01015024;AC068025;AC068588;AC090698;AF263312;AK024376;AK025902;AL110163;AL833649;AMYH02033246;AMYH02033247;AMYH02033248;AMYH02033249;AMYH02033250;AY049015;BC024166;BC032793;BC037535;BC037740;BC047652;BC051737;BC062764;BC133039;BC144067;BE772351;CA395289;CH471159;CK300429;CQ834802;NM_020791;NM_025142 AAG38502;AAI33040;AAI44068;AAL12217;BAA92599;BAB14901;CAH05616;EAW51188;EAW51189;EAW51190;NP_065842;NP_079418;Q7L7X3 Hs.597434;Hs.735869 1339465;1666608;1670954;1676796;1700742;1739483;1763175;2111053;2116885;2166177;5014003;5014039;5014051;5015404;5015621;5020946;5022200;5022463;5022578;5022651;5024272;5024413;5037552;5117897 Cdy1df02;D11S2921;D11S3732;D17S1136;D17S1699;D17S1841;D17S892E;D1S1423;D22S1584;D2S1254;D3S1673;D8S2278;D8S2279;G29217;GDB:631813;L17705;L17877;L17971;L18426;RH103996;RH12393;RH47925;SHGC-146905;SHGC-32000 FLJ14314;KFC-B;KIAA1361;MAP3K16;MARKK;PSK-2;PSK2;TAO1;hKFC-B;hTAOK1 MARK Kinase;STE20-like kinase PSK2;kinase from chicken homolog B;microtubule affinity regulating kinase kinase;prostate-derived STE20-like kinase 2;prostate-derived sterile 20-like kinase 2;serine/threonine kinase TAO1;serine/threonine protein kinase TAO1 homolog;serine/threonine-protein kinase TAO1;thousand and one amino acid protein 1;thousand and one amino acid protein kinase 1 protein-coding ENSG00000160551 HGNC:29259 15467 610266 VALIDATED 1605388 TAOK3 TAO kinase 3 ENCODES a protein that exhibits protein serine/threonine kinase activity; transferase activity; INVOLVED IN cellular response to DNA damage stimulus; MAPK cascade; mitotic G2 DNA damage checkpoint; PARTICIPATES IN p38 MAPK signaling pathway; mitogen activated protein kinase signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-fluorouracil; benzo[a]pyrene 12 12 12 q 118218692 118443700 - 118587606 118810750 - 118149801 118372945 - 6480464;6484113;6907045;8554872 10559204;10924369;11278723;12477932;13679851;14702039;14996095;15489334;16344560;17396146;17478428;18029348;20195357;20379614;20949042;22939624;24250222;24816145 51347 F5GWV8;F5GX96;F5GY38;F5H005;F5H0M3;F5H1I2;F5H3L7;F5H5C7;F5H5E0;F5H7G4;G3V1Q8;H0YF68;Q9H2K8 AA744362;ABBA01020051;ABBA01020052;ABBA01020053;ABBA01020054;ABBA01020055;ABBA01020056;ABBA01020057;ABBA01020058;ABBA01020059;AC026366;AC026367;AC073596;AF135158;AF161373;AF179867;AF181985;AF263311;AF328731;AI057643;AK056370;AK289558;AL833460;AL833731;AMYH02027330;AMYH02027331;AMYH02027332;AMYH02027333;BC002756;BT007185;CH471054;DB066061;HH961884;NM_016281;XM_005253897;XM_005253898;XM_006719445;XM_006719446 AAF14559;AAF25817;AAF28933;AAG09131;AAG38501;AAH02756;AAN09723;AAP35849;ABM81622;ABM84807;BAF82247;BAG51691;CAH56239;CBX51415;EAW98124;EAW98125;NP_057365;Q9H2K8;XP_005253954;XP_005253955;XP_006719508;XP_006719509 Hs.644420 1648234;1663486;1720111;1746945;1749867;1776436;1853557;2145841;2152103;2155510;2175206;5093678;5110952 A009U43;D12S1181E;D12S1408;D12S1864;G32859;G64847;RH123797;RH65671;RH70366;SGC33521;SHGC-111595;STS-T95105;STS-W56792 DKFZp666H245;DPK;FLJ31808;JIK;MAP3K18;hKFC-A CTCL-associated antigen HD-CL-09;JNK/SAPK-inhibitory kinase;OTTHUMP00000239670;OTTHUMP00000239671;STE20-like kinase;cutaneous T-cell lymphoma-associated antigen HD-CL-09;dendritic cell-derived protein kinase;jun kinase-inhibitory kinase;kinase from chicken homolog A;serine/threonine-protein kinase TAO3;thousand and one amino acid protein 3 protein-coding ENSG00000135090 HGNC:18133 11620 VALIDATED 736475 TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] 6 6 6 p21.3 34361879 34370641 - 32812986 32821748 - 32845209 32853971 - 1331525;1580863;2312370;2312369;2312371;2312373;5147844;5147845;5147840;5147842;5147846;6480464;6482260;6482272;6482278;6482249;6482250;1578361;6482251;6482262;6482266;6482277;6482248;6482274;6907045;7240710;8548785;8548788;8699517;8554872 10618282;11194890;11591192;12018331;12640628;12648582;1300236;14976605;15118671;15887980;16112028;17245734;17982230;18248301;18342853;19217216;19480848;19492245;21843574;7748224;9014588;9129974;9300732;9458110 10074494;10227971;10508608;10605026;11096258;11133832;11157746;11169396;11250043;11250044;11381133;11532960;11737038;11774612;11775239;11788900;11884415;11960305;12026214;12047361;12047747;12213826;12225333;12234057;12477932;12485523;12505156;12507827;12539042;12582163;12594855;12634240;12645939;12648225;12648282;12682044;12687213;12729048;12777379;12777979;12786997;12827444;12857899;12878362;12911283;1453454;14551602;14558951;14679198;14694183;14702039;14749980;1529427;15306733;15322097;15336779;15343265;1538751;15488952;15518576;15548263;15577206;15686587;1570316;15711027;15778351;15897556;15905524;16061226;16174096;16189514;16191421;16215317;16216677;16356928;16407277;16604487;16634865;16640035;16691491;16731921;16828748;16864587;16923719;16956670;17055437;17068338;17164240;17382375;17418234;17491658;17498556;17525827;17581627;17649665;17703412;17875943;17917315;17940597;17947644;18071882;18191725;18199642;18380807;18385764;18433405;18694960;18764808;19148137;19188174;19202550;19247692;19258923;19263211;19297616;19343046;19387463;19404951;19439551;1946428;19549407;19609238;19808685;19851445;19913121;19946888;19953286;20134267;20141545;20193774;20204276;20230813;20450707;20452482;20470844;20503287;20525414;20628086;20673868;20820776;20877624;21098634;21205905;21207025;21362330;21399633;21796142;21890473;21906983;21914809;21988832;22002058;22025554;22031944;22065046;22298786;2259383;2259384;22638925;22684063;22932452;22939629;22989262;23272491;23302073;23340176;23395648;2342577;23682387;23799215;23834030;24196954;24247241;24288424;24501197;24816145;25015289;7538543;7673167;8168860;8248212;8453065;8458375;8568858;8640228;8670825;8805302;8955196;9103419;9175839;9310490;9545232;9774463 6890 Q03518 AB012644;AB012645;ABBA01038132;AF492485;AK123494;AK130176;AK302340;AK313762;AL669918;AL671681;AL935043;AMYH02013475;AY349134;AY523970;AY523971;BC014081;BX088556;BX648013;BX927138;CH471081;CR753889;CR762476;CR933844;DC354917;L21204;L21205;L21206;L21207;L21208;NG_011759;NM_000593;NM_001292022;S70256;S70260;S70266;S70274;S70277;U07197;U07198;U16763;X57521;X57522;X66401;X87344 AAA89080;AAB60321;AAB60322;AAC12902;AAC12903;AAC12904;AAC12905;AAC12906;AAD14054;AAD14055;AAD14056;AAH14081;AAM11658;AAR05812;AAS55411;AAS55412;ABM87349;ABW03876;BAA32813;BAA32814;BAG36500;BAH13680;CAA40740;CAA40741;CAA47025;CAA60785;EAX03646;EAX03647;EAX03648;EAX03649;EAX03650;EAX03651;EAX03652;NP_000584;NP_001278951;Q03518 Hs.352018 1650655;1743051;1769403;1790677;1791590;1855746;2106343;2106345;2132926;5022200;5022651;5120630;5120670 BARC0051;D11S2921;D6S2042;D6S2820;D6S2874;GDB:250900;GDB:362795;GDB:365643;L18426;PMC115886P1;RH46725;RH69680;RH70842 ABC17;ABCB2;APT1;D6S114E;FLJ26666;FLJ41500;PSF-1;PSF1;RING4;TAP1*0102N;TAP1N ABC transporter, MHC 1;ATP-binding cassette sub-family B member 2;ATP-binding cassette, sub-family B (MDR/TAP), member 2;OTTHUMP00000029077;antigen peptide transporter 1;peptide supply factor 1;peptide transporter PSF1;peptide transporter TAP1;peptide transporter involved in antigen processing 1;really interesting new gene 4 protein;transporter associated with antigen processing;transporter, ATP-binding cassette, major histocompatibility complex, 1 APPROVED protein-coding ENSG00000168394 HGNC:43 01359 170260;604571 REVIEWED 1348865 TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014] 6 6 6 p21.3 34338665 34355440 - 32789610 32806547 - 32821833 32838770 - 1580863;1601413;2312368;2312373;5147851;5147839;5147847;6480464;6482260;6482272;6482278;6482265;6482279;6482249;6482250;6482263;6482280;6482281;6482261;6482264;6482276;6482277;6482273;6482275;1578361;6907045;7240710;8699517;8554872 10323341;10560675;12634240;12648582;1300236;16112028;16595160;17192492;17366619;17581627;18071882;18248301;19480848;19492245;21796142;7748224;7759306;7797617;7928442;9014588;9062973;9303338;9645419 10227971;10508608;10605026;10835348;11096258;11133832;11157746;11229461;11294565;11381133;11494532;11532960;11737038;11774612;11775239;11916171;11960305;12018331;12026214;12047361;12047747;12202157;12213826;12225333;12234057;12477932;12485523;12505156;12507827;12594855;12645939;12648225;12648282;12682044;12687213;12717621;12729048;12777379;12777979;12786997;12786999;12826376;12911283;12963978;1453454;14558951;14679198;14749980;1529427;15318034;15336779;15343265;15385740;1538751;15488952;15489334;15518576;15548263;1570316;15887980;16061226;16174096;16191421;16210614;16215317;16216677;16356928;16395595;16634865;16690408;16721835;16828748;16886895;16923719;17055437;17068338;17245734;1741401;17491658;17525827;17703412;17947644;17982230;18029348;18309376;18385764;18433405;18650831;18694960;18764808;18976687;19116923;19148137;19188174;19202550;19217216;19258923;19263211;19297616;19343046;19387463;19404951;1946428;19549407;19609238;19851445;19913121;19946888;20083708;20193774;20204276;20439763;20453000;20470844;20503287;20525414;20587610;20628086;21139048;21399633;21440064;21832049;21843574;21890473;21906983;21963094;21987572;21988832;22065046;22505724;2259383;22638925;22911334;22989262;23000965;23028341;23182705;23189151;23302073;23349640;23449627;24196954;24288424;24501197;24816145;7517574;7538543;7673167;7792761;7835969;8125298;8162639;8428770;8453065;8458375;8496691;8568858;8670825;8773329;8805302;8955196;9002450;9103419;9175839;9324024;9427624;9551969;9672156;9916708 6891 Q03519;Q5JNW1;Q9UP03;X5CMH5 AB073779;AB208953;ABBA01038132;AF078671;AF105151;AF152583;AF176984;AF415199;AK222823;AK223300;AK225657;AK225693;AK292963;AL669918;AL671681;AL833658;AL935043;AMYH02013475;AY007425;BC002751;BG423357;BT009906;BX296564;BX682530;BX927138;CH471081;CR753889;CR762476;CT009500;CT009502;D42066;D78570;DC345324;FM246456;L09191;L09271;L10287;M74447;M84748;NG_009793;NM_000544;NM_001290043;NM_018833;U07844;X66401;X87344;Z22935;Z22936 AAA58648;AAA58649;AAA59841;AAA79901;AAD12059;AAD31384;AAD32715;AAD50509;AAG12163;AAI52840;AAL07496;AAP88908;ACE87017;BAA07665;BAA11414;BAB71769;BAD92190;BAD96543;BAD97020;BAF85652;CAA47027;CAA60788;CAA80522;CAA80523;CAR92541;EAX03642;EAX03643;NP_000535;NP_001276972;NP_061313;Q03519 Hs.502 1663000;1664794;1710998;2158071;2170410;2218616;5120263;5120632;5493898 A006P08;D6S1426;D6S1432;G15956;GDB:226705;GDB:362798;SHGC-84877;TAP2_4167;Tap2 ABC18;ABCB3;APT2;D6S217E;PSF-2;PSF2;RING11 ABC transporter, MHC 2;ATP-binding cassette sub-family B member 3;ATP-binding cassette, sub-family B (MDR/TAP), member 3;OTTHUMP00000029078;OTTHUMP00000029079;OTTHUMP00000218770;antigen peptide transporter 2;peptide supply factor 2;peptide transporter PSF2;peptide transporter TAP2;peptide transporter involved in antigen processing 2;really interesting new gene 11 protein;transporter 2, ABC (ATP binding cassette) APPROVED protein-coding ENSG00000204267 HGNC:44 01360 170261;604571 REVIEWED 1317352 TAPBPL TAP binding protein-like Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008] 12 12 12 p13.31 8178068 8188377 + 6561177 6571488 + 6452011 6462322 + 737633;1580863;6480464 12477932 11920573;14702039;15340161;15489334;16344560;18340469;19204726;19773279;21362330;23401559;24163410;24444341;24816145;8125298 55080 G3V1T3;Q9BX59 ABBA01017642;AC005840;AI184901;AI273155;AK001005;AK002056;AK098035;AK222956;AK223163;AMYH02025951;BC015017;CH471116;CR997450;CS072294;DB054664;NM_018009;XM_005253699;XM_005253700;XM_005253701;XM_005253702;XM_005253703;XR_429016 AAH15017;ADR82769;BAA91465;BAB41077;BAD96676;BAD96883;CAI93432;EAW88797;EAW88798;EAW88799;NP_060479;Q9BX59;XP_005253756;XP_005253757;XP_005253758;XP_005253759;XP_005253760 Hs.504597 1656391;1663248;2137196;2182435;2218100 D12S1215E;RH17725;RH44502;TNFRSF7_2819;WI-7129 FLJ10143;TAPBP-R;TAPBPR OTTHUMP00000238559;TAP binding protein related;TAP-binding protein-like;TAP-binding protein-related protein;TAPASIN-R;tapasin-like;tapasin-related protein APPROVED protein-coding ENSG00000139192 HGNC:30683 06153 607081 VALIDATED 1605561 TAPT1 transmembrane anterior posterior transformation 1 This gene encodes a highly conserved, putative transmembrane protein. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. This gene is proposed to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. An alternatively spliced transcript variant encoding a substantially different isoform has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] 4 4 4 p15.32 16626692 16693512 - 16162128 16228161 - 16160505 16226538 - 6480464;8554872 10640539;12477932;16303743;17151244;21890473;21906983;8605045 202018 B4DJJ3;B4DR99;D6RBK3;H0Y916;H0Y985;Q6NXT6 AA811306;ABBA01032580;ABBA01032581;AC108063;AC110088;AF189251;AK074494;AK296104;AK299163;AMYH02008808;BC066899;CH471069;CQ783461;CQ834444;DB461077;NG_033259;NM_153365;XM_005248139;XM_005248140;XM_005248141;XM_005248142;XR_241676 AAF28308;AAH66899;BAC11022;BAG58855;BAG61211;CAF86657;CAH05437;EAW92754;EAW92755;EAW92756;EAW92757;EAW92758;EAW92759;EAW92760;EAW92761;EAW92762;NP_699196;Q6NXT6;XP_005248196;XP_005248197;XP_005248198;XP_005248199 Hs.479223 1665707;1674143;1848112;2152626;2185155 D4S479;RH69420;SHGC-24737;SHGC-67683;SHGC-67911 CMVFR;FLJ90013 OTTHUMP00000217738;cytomegalovirus partial fusion receptor;transmembrane anterior posterior transformation protein 1 homolog APPROVED protein-coding ENSG00000169762 HGNC:26887 612758 REVIEWED 735382 TAPBP TAP binding protein (tapasin) This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34821829 34836529 - 33267471 33282164 - 33299694 33314387 - 1599296;1580863;6480464;6907045;7240710;8699517;8554872 12149238 10088603;10382748;10508608;10636848;11132161;11823531;11862402;11884415;11970875;11972874;12018464;12047747;12200052;12213826;12463753;12477932;12582157;12594855;12682852;12788224;13678524;14519625;14574404;14607930;14668790;14978101;15163903;15455354;15489334;15634919;15743475;16193070;16322289;16344560;16828748;17055437;17170699;17207965;17389020;17498802;17947644;18039656;18196518;18248301;18261958;18694960;19119025;19167761;19217216;19322201;19701894;19728311;19776380;19851445;20017190;20070606;20532727;20600451;21139048;21248040;21518758;21890473;21963094;21987572;22505724;22923333;23000965;23519916;23640800;23736108;23940558;24163410;8619474;8769474;8805302;9110174;9238042;9271576;9521053;9545232;9545376;9802609 6892 A2AB90;C9JA35;D3YTI9;O15533;Q6P1N7 AB010639;AB012622;AB012920;ABBA01038140;ABBA01038141;AF009510;AF029750;AF067286;AF314222;AL662820;AL662827;AMYH02013483;AU117273;AW028178;AW451052;AY007154;BC064966;BC080574;BI523615;BX248088;CH471081;CR759786;CR759817;EU693375;NG_009876;NM_003190;NM_172208;NM_172209;Y13582;Z97183 AAB82949;AAC20076;AAD32924;AAG33061;AAH64966;AAH80574;ACD68200;ADQ32063;BAA28757;BAA28758;BAA28759;CAA73909;EAX03715;EAX03716;EAX03717;EAX03718;EAX03719;EAX03720;NP_003181;NP_757345;NP_757346;O15533 Hs.370937 1676436;1676682;1739679;1769932;2108673;2154271;2180771;2181737;5014051;5015619;5016478;5020946;5022200;5022651;5024272;5037552 D11S2921;D11S3114;D2S1254;D6S1534E;D6S1891;D8S2278;D8S2279;GDB:434012;L17971;L18426;RH37250;RH93285;RH98925;STS-H95651;STS-W74659;ZNF297_8921 NGS-17;NGS17;TAPA;TPN;TPSN OTTHUMP00000029102;OTTHUMP00000178697;OTTHUMP00000178698;OTTHUMP00000178699;OTTHUMP00000215400;TAP-associated protein;TAP-binding protein;tap binding protein;tapasin APPROVED protein-coding ENSG00000231925 HGNC:11566 09061 601962;604571 REVIEWED 2307245 TAPT1-AS1 TAPT1 antisense RNA 1 (head to head) INTERACTS WITH atrazine 4 4 4 p15.32 16693640 16725164 + 16228286 16259810 + 16226663 16258187 + 12107410;12477932;14702039;16341674;16344560 202020 ABBA01032581;AC006427;AC110088;AI770046;AK093550;AK096972;AMYH02008808;BC010030;BC025666;BC132927;BF732723;BQ082500;CA391675;CH471069;DA640966;DA797317;DA920057;DB123134;DR004294;HG496763;HG496765;NR_027696;NR_027697 BAC04194;BAC04916;EAW92764 Hs.445315 1694472;5017170;5022578;5493457 D1S1423;G42966;L29953;UniSTS:486536 RP11-783N5.1 APPROVED ncrna ENSG00000263327 HGNC:26832 08263 VALIDATED 1349936 TAPVR1 total anomalous pulmonary venous return 1 ASSOCIATED WITH Scimitar Syndrome (inferred) 7240710 6893 HGNC:11567 106700 1347235 TARBP1 TAR (HIV-1) RNA binding protein 1 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q42.3 207797968 207884850 - 234527059 234614863 - 234391313 234479117 - 1580863;6480464;8554872 12458222;12477932;14559993;14702039;16710414;17360756;1752441;17903297;18051367;18412263;1936997;19422693;19615732;20379614;21139048;21294215;21890473;21963094;22025453;24250222;25036637;7638159;8626763;8846792 6894 Q13395 AA714641;ABBA01033094;ABBA01033095;ABBA01033096;AK055044;AL136124;AL355472;AMYH02002924;AMYH02002925;AMYH02002926;AMYH02002927;BC016023;CH471098;NM_005646;U38847;XM_005273234;XM_006711812 AAC50379;AAI56250;EAW69993;NP_005637;Q13395;XP_005273291;XP_006711875 Hs.498115 1650142;1674699;1675001;1846812;2158662;2170693;2174233;2174235;2174269;5015861;5015961;5037552;5093838;5093856;7185938 A006I23;A009X31;A009X47;AL010060;D10S16;D15S1477;D8S2279;G20847;G32953;G32965;SGC31782;SHGC-76544;SHGC-76546;SHGC-76556 FLJ30482;TRM3;TRP-185;TRP185 OTTHUMP00000036048;TAR (HIV) RNA binding protein 1;TAR (HIV) RNA-binding protein 1;TAR RNA loop binding protein;TAR RNA-binding protein 1;TAR RNA-binding protein of 185 kDa;probable methyltransferase TARBP1;tRNA methyltransferase 3 homolog APPROVED protein-coding ENSG00000059588 HGNC:11568 05445 605052 REVIEWED 1353285 TARBP2P TAR (HIV-1) RNA binding protein 2 pseudogene 8 8 8 q22.3 100857960 100859304 + 104671472 104672816 + 103659244 103660588 + 11060498;2011739;7774957 6896 ABBA01037642;AC007751;AF197477;AMYH02018547;NG_001199 TRBP tar (hiv) rna binding protein 2 pseudogene pseudo HGNC:11570 INFERRED 1316539 TARBP2 TAR (HIV-1) RNA binding protein 2 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 53545063 53550573 + 53893557 53900215 + 53499800 53506431 + 1580863;4144851;6480464 20661255 10330179;10759868;11060498;11228241;11438532;11443112;11641396;12023963;12477932;12549820;14585207;15123692;15973356;16142218;16169070;16343534;16357216;16424907;16629595;17360756;17452327;18029348;18178619;18654987;18936160;18948111;19047128;19060904;19138993;19219043;19422693;19716330;19820710;19836333;19953087;2011739;20211142;20211803;20585341;20732906;20877318;21080422;21145461;21526770;21832049;21900206;21903422;22025453;22163034;22698405;22933564;22999255;23006623;23251028;23435228;23550157;23658827;23661684;23671264;23690119;24025624;24563462;24778252;25043050;7568151;7774957;8455607;8723388 6895 F8VP94;F8VSA1;F8VTT7;F8VW32;F8VYK3;F8VYK6;F8VZ57;F8VZZ7;H3BV98;Q15633 ABBA01008343;AC023509;AF281068;AK290737;AK309569;AMYH02026525;BC002419;BC005860;BC150583;BI771121;BT007140;CH471054;M60801;NM_004178;NM_134323;NM_134324;U08998;XM_005269114;XM_005269115;XM_005269116;XM_005269117;XM_005269120;XM_005269122;XM_006719581;XR_245955 AAA36765;AAB50581;AAH05860;AAL55730;AAL55731;AAP35804;ABM84475;ABM84857;BAF83426;EAW96717;EAW96718;EAW96719;EAW96720;NP_004169;NP_599150;NP_599151;Q15633;XP_005269171;XP_005269172;XP_005269173;XP_005269174;XP_005269177;XP_005269179;XP_006719644 Hs.326;Hs.604255 1682852;1715357;1775723;1776642;2107657;2182366 G42930;RH120510;RH39878;STS-M60801;STS-R72841;TARBP2__5191 LOQS;TRBP;TRBP1;TRBP2 OTTHUMP00000242306;OTTHUMP00000242307;OTTHUMP00000242315;RISC-loading complex subunit TARBP2;TAR (HIV) RNA binding protein 2;TAR (HIV) RNA-binding protein 2;TAR (HIV) RNA-binding protein TRBP1;TAR RNA binding protein 2;TAR RNA-binding protein 2;trans-activation responsive RNA-binding protein;trans-activation-responsive RNA-binding protein APPROVED protein-coding ENSG00000139546 HGNC:11569 05446 605053 REVIEWED 1343582 TARDBPP1 TAR DNA binding protein pseudogene 1 20 20 20 p12.3 6251410 6254078 - 6180245 6182913 - 6199598 6202266 - 643503 ABBA01053902;AL359954;AMYH02036657;CH471133;NG_009903 EAX10391 TARDBPL;bA318P23.1 APPROVED pseudo HGNC:16536 INFERRED 5130653 TARDBPP2 TAR DNA binding protein pseudogene 2 13 13 13 q21.2 41801589 41808459 + 60843438 60850271 + 60269304 60276137 + 440142 ABBA01050212;AL359920;NG_005965 pseudo HGNC:39848 INFERRED 8655759 TARID TCF21 antisense RNA inducing promoter demethylation ASSOCIATED WITH Cardiomyopathies (inferred) 6 6 6 q23 134497444 134570028 - 134072776 134210200 - 133502252 133889006 - 8554872 14702039;16344560;18464913;22306654;22589738;22751097;25087872 100507308 ABBA01025867;ABBA01025868;ABBA01025869;ABBA01025870;ABBA01025871;AK093513;AL024497;AL078586;AL137011;AL356109;AL450270;AL450305;AMYH02014513;AMYH02014514;AMYH02014515;AMYH02014516;AMYH02014517;AMYH02014518;AMYH02014519;AMYH02014520;BC041459;BQ009762;DA836644;DB063930;DB279014;HG499641;HG499643;HG499644;HG499646;HG499647;HG499648;KF458291;KF458295;NR_109982 Hs.102408;Hs.665572 EYA4-AS1 APPROVED ncrna ENSG00000227954 HGNC:50506 VALIDATED 3399181 TARM1 T cell-interacting, activating receptor on myeloid cells 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH trimellitic anhydride (ortholog) 19 19 19 q13.42 51612866 51624307 - 54573149 54584634 - 54069895 54081365 - 6480464 19050727 441864 B6A8C7 ABBA01068176;ABBA01068177;AC012314;AC245052;AK301730;AMYH02036444;DQ479398;NM_001135686;XM_005258952;XM_005277075;XM_005277265;XM_005278278;XM_006725770;XM_006725871;XM_006725959;XM_006726058;XM_006726159;XM_006726196 ABF19808;B6A8C7;BAG63196;NP_001129158;XP_005259009;XP_005277132;XP_005277322;XP_005278335;XP_006725833;XP_006725934;XP_006726022;XP_006726121;XP_006726222;XP_006726259 Hs.694674 1743345;1818576;1820986;1828142;1833948;1840108;1842050;1844384;1846192;1846282;2040772;2040774;2040776;2040778;2040780;2040782;2040784;2040786;2040788;2040790;2040792;2040794;2040796;2040798;2040800;2040802;2040804;2040806;2040808;2040810;2040812;2040814;2040816;2040818;2040820;2040822;2040824;2040826;2040828;2040830;2040832;2040834;2040836;2040838;2040840;2040842;2040844;2040846;2040848;2040850;2040852;2040854;2040856;2040858;2103520;2103522;2103524;2103526;2103528;2103530;2103532;2103534;2103536 ECD10350;ECD11569;ECD15194;ECD18121;ECD21238;ECD22228;ECD23406;ECD24316;ECD24361;GDB:315065;REN91420;REN91421;REN91422;REN91423;REN91424;REN91425;REN91426;REN91427;REN91428;REN91429;REN91430;REN91431;REN91432;REN91433;REN91434;REN91435;REN91436;REN91437;REN91438;REN91439;REN91440;REN91441;REN91442;REN91443;REN91444;REN91445;REN91446;REN91447;REN91448;REN91449;REN91450;REN91451;REN91452;REN91453;REN91454;REN91455;REN91456;REN91457;REN91458;REN91459;REN91460;REN91461;REN91462;REN91463;stSG605761;stSG605762;stSG605763;stSG605764;stSG605766;stSG605767;stSG605768;stSG605769;stSG605770 OLT-2 OSCAR-like transcript-2 protein;T-cell-interacting, activating receptor on myeloid cells protein 1 protein-coding ENSG00000248385 HGNC:37250 VALIDATED 1322081 TARDBP TAR DNA binding protein HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 10184976 10197861 + 11072462 11085549 + 11012622 11025492 + 1580863;5687171;5687185;5687180;5687173;5687183;5687158;5687136;5687195;5687192;5687194;5687137;5687193;5687159;5687134;5687172;5687178;5687157;5687179;5687139;6480464;7240710;8554872;8699517 17023659;18091558;18288693;18309045;18372902;20512649;20551689;20660618;20669025;20720505;21070634;21376022;21651514;21667065;21752789;21865887;21998667;22101322;22177996 11076863;11230166;11256614;11285240;11470789;12361981;12477932;15231747;15489334;15489336;16157593;16169070;16381901;16710414;17081983;17360763;17481916;17492294;17569066;17614162;17623298;17643375;17653732;17981595;18029348;18068872;18087705;18088371;18206910;18304732;18305110;18305152;18377426;18379440;18391021;18396105;18438952;18505686;18506455;18520774;18545701;18546284;18549326;18584184;18592312;18634762;18656473;18657254;18703504;18723384;18723524;18755042;18779421;18802454;18843496;18923836;18929508;18931000;18957508;18974920;18989684;19018245;19039597;19048944;19066918;19111550;19112176;19125255;19139310;19139911;19164285;19191304;19204154;19204172;19217189;19224587;19225410;19228676;19235466;19236453;19237541;19283396;19285963;19303844;19306141;19330339;19338576;19350673;19383787;19411082;19422539;19455346;19465477;19471022;19515851;19526244;19533646;19560462;19609911;19618195;19664364;19685386;19695877;19714537;19738201;19760257;19781077;19786775;19798749;19808791;19815002;19816201;19833869;19851068;19864663;19864664;19887443;19910924;19938687;19944744;19959528;20008652;20020773;20031275;20043239;20047951;20055380;20071528;20082726;20133711;20154090;20154440;20175762;20225928;20236174;20301623;20301761;20360068;20372915;20423455;20447446;20472325;20519548;20530643;20554523;20555136;20558162;20558945;20577002;20600671;20621187;20624952;20645878;20675015;20697052;20702714;20708823;20720006;20736350;20804554;20864052;20933032;20937952;20948999;20951205;20959352;21062285;21086759;21118398;21120508;21123567;21126161;21131904;21139048;21145461;21172843;21172844;21206091;21209826;21220647;21243369;21252943;21257637;21339291;21355045;21358640;21403029;21412434;21418058;21421050;21450909;21452073;21454603;21454607;21471218;21487023;21508314;21541367;21647631;21666678;21678031;21706176;21753175;21783252;21830155;21832049;21853274;21881207;21890473;21899152;21903422;21906983;21933185;21943958;21946215;21956716;21956718;21963094;21987572;22029574;22079093;22100394;22118674;22127299;22133803;22147697;22156203;22193716;22235134;22252998;22257502;22268729;22292843;22323604;22327514;22363618;22398199;22405725;22406069;22414730;22424122;22446626;22456481;22493728;22505724;22506890;22539017;22539580;22550220;22563080;22575358;22578468;22584570;22623428;22674379;22674575;22691390;22693459;22718532;22732773;22751105;22751173;22752089;22764223;22797246;22797925;22804696;22835933;22855830;22860700;22872699;22873561;22900096;22939629;22941224;22944662;22957047;22970712;22990118;23000965;23022214;23023293;23041957;23048034;23053136;23062702;23092511;23097605;23124365;23125841;23138004;23231971;23235148;23258539;23300771;23317354;23327806;23372158;23384725;23389994;23449777;23475610;23475817;23541532;23546887;23558684;23559573;23587065;23604587;23664753;23686809;23689371;23703321;23704877;23721326;23737961;23740936;23742895;23798570;23798571;23804749;23827948;23840565;23874513;23922830;23962724;23967244;24080705;24085347;24105464;24113842;24143176;24220679;24240615;24256250;24298989;24300238;24309270;24332808;24378564;24440310;24440855;24457600;24464995;24492607;24497641;24507183;24507191;24515116;24550385;24591609;24709683;24816145;24825905;24882209;25027693;7745706;8125298;8599929;8889548 23435 B1AKP7;G3V162;K7EJ99;K7EJM5;K7EL26;K7EN94;K7ENM9;Q13148;Q9H256 ABBA01003032;AF311304;AK222754;AK295920;AK299454;AK312416;AL045296;AL050265;AL109811;AMYH02000279;BC001487;BC059955;BC071657;BC095435;BI464234;BM716882;CD703666;CH471130;CR533534;EF434181;EF434182;EF434183;HB886813;HC091208;HC944222;NG_008734;NM_007375;U23731 AAA70033;AAG47782;AAH71657;AAH95435;ABO32290;ABO32291;ABO32292;ABZ92471;BAD96474;BAG35326;BAG58707;BAG61425;CAB43367;CAG38565;CAL37794;CBF67564;CBI68017;CBU92437;EAW71669;EAW71670;EAW71671;EAW71672;EAW71673;NP_031401;Q13148 Hs.300624 1688538;1856297;2157128;5109627;5115061;5125057 D1S1845E;HSC11D022;RH10991;RH27226;SHGC-74204;WI-8757 ALS10;TDP-43 OTTHUMP00000002171;OTTHUMP00000002172;OTTHUMP00000002173;TAR DNA-binding protein 43;TAR DNA-binding protein-43 APPROVED protein-coding HGNC:11571 05466 605078;612069 REVIEWED 1604885 TARP TCR gamma alternate reading frame protein In some non-lymphoid tissues, the unrearranged T cell receptor gamma (TRG@) locus is expressed. The resulting transcript contains a subset of the TRG@ gene segments and is shorter than TRG@ transcripts expressed in lymphoid tissues. This RefSeq record represents the unrearranged TRG@ locus transcript; the complete TRG@ locus is represented by the genomic RefSeq NG_001336. The transcript represented by this RefSeq has two open reading frames (ORFs) that encode different proteins. The downstream ORF is in the same frame as TRG@ and its protein product is similar to TRG@ proteins. The upstream ORF uses a different reading frame and encodes a novel protein. [provided by RefSeq, Jul 2008] 7 7 7 p15-p14 38286542 38301081 - 38299243 38357285 - 38259643 38276529 - 6480464 10430935;10931945;11719440;12477932;12865322;15150260;18321859;20376779;20413723;20499060;20558613;21832049;23019373;23566497;24238509;2949984;2955517;2961573;3102973;3112943;3261778 445347 A2JGV3;Q0VGM3 ABBA01056928;AC006033;AC244625;AF151103;AF151104;AX074415;BC017861;BC030554;BC105589;BF674593;CH236951;GN344123;GN344125;M16804;M17324;M17325;M27331;M27332;M27334;M30894;NG_001336;NG_029035;NM_001003799;NM_001003806;X06774;X06775;XM_006715732;Y00790 AAA61112;AAA61113;AAA61114;AAA61123;AAA61124;AAB63313;AAB63314;AAG29337;AAI05590;CAA29941;CAA29942;CAA29943;CAA68744;CAC28474;CAY55997;CAY55998;NP_001003799;NP_001003806;XP_006715795 Hs.534032;Hs.731375 1673087;7187376 D7S2865;TCRG CD3G;TCRG;TCRGC1;TCRGC2 OTTHUMP00000207440;T cell receptor gamma alternate reading frame protein;T cell receptor gamma chain;T-cell receptor gamma-chain constant region APPROVED protein-coding 15468 609642 REVIEWED 1344526 TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative) This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012] 1 1 1 q21.3 123575684 123595519 + 150459840 150480085 + 150487364 150507609 + 6480464;8699517 12477932;14702039;15146197;15342556;15489334;15779907;16710414;19209188;20186120;20877624;21145461;21890473;21963094;22797925;24654937;24816145;25027693;25036637;8125298;8889548 80222 B4DQF3;Q5T5E9;Q5T5F2;Q9BW92;U3KQ50;U3KQG0 ABBA01049345;ABBA01049346;ABBA01049347;AK022590;AK222814;AK225368;AK298773;AK315507;AL356356;AL512732;AMYH02001851;AMYH02001852;AMYH02001853;AY450558;BC000541;BC007824;BC009997;BM974316;BP308698;CA426625;CH471121;CN258895;DB451526;DB551795;HY044809;NG_034226;NM_001271895;NM_001271896;NM_025150;NR_073513;NR_073514;XM_006711555;XM_006711556 AAH00541;AAH07824;AAH09997;AAR23527;BAB14117;BAD96534;BAG60915;CAC21664;EAW53548;EAW53549;EAW53550;NP_001258824;NP_001258825;NP_079426;Q9BW92;XP_006711618;XP_006711619 Hs.288974 5037552 D8S2279 COXPD21;FLJ12528;TARSL1;thrRS OTTHUMP00000014939;OTTHUMP00000014940;OTTHUMP00000014941;threonine tRNA ligase 2, mitochondrial;threonine--tRNA ligase;threonine--tRNA ligase, mitochondrial;threonyl-tRNA synthetase, mitochondrial;threonyl-tRNA synthetase-like 1 protein-coding ENSG00000143374 HGNC:30740 18148 612805;615918 REVIEWED 6480385 TARS2P1 threonyl-tRNA synthetase 2, mitochondrial pseudogene 4 4 136486064 136488317 - 135564909 135567162 - 100533844 ABBA01044892;AC093773;AMYH02010155;NG_028840 pseudo HGNC:43712 INFERRED 1351710 TARSL2 threonyl-tRNA synthetase-like 2 ENCODES a protein that exhibits ATP binding (inferred); ligase activity, forming aminoacyl-tRNA and related compounds (inferred); threonine-tRNA ligase activity (inferred); INVOLVED IN threonyl-tRNA aminoacylation (inferred); tRNA aminoacylation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH bisphenol A; copper(2+) sulfate; formaldehyde 15 15 15 q26.3 78607580 78678213 - 102193955 102264807 - 101653752 101724604 - 1580863;6480464 12477932;14702039;20379614;21906983;21987572;24312579;8889548 123283 A2RTX5;B7ZLP8;H0YKB9 ABBA01020518;AC027559;AC090164;AK056653;AK057734;AL833188;AMYH02031174;AW161214;BC035827;BC069346;BC069811;BC074887;BC132671;BC136315;BC143943;BE856588;BU677165;CH471101;NM_152334;XM_005254858;XM_006720386;XM_006720387 A2RTX5;AAH69346;AAH69811;AAH74887;AAI32672;AAI36316;AAI43944;BAB71241;BAB71554;EAX02316;NP_689547;XP_005254915;XP_006720449;XP_006720450 Hs.657163 1649487;1663888;1663890;1688716;1691204;1768634;2149974;2154210;2158182 A004I39;A005U16;G20505;NIB466;RH75749;RH94107;SHGC-57685;STS-Z40661;WI-14285 FLJ25005;thrRS OTTHUMP00000194834;probable threonine--tRNA ligase 2, cytoplasmic;probable threonyl-tRNA synthetase 2, cytoplasmic;threonine--tRNA ligase;threonyl-tRNA synthetase;threonyl-tRNA synthetase-like protein 2 protein-coding ENSG00000185418 HGNC:24728 15469 VALIDATED 1347839 TARS threonyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008] 5 5 5 p13.2 33321918 33349216 + 33440802 33468196 + 33440696 33468091 + 1580863;6480464 11329013;12477932;14702039;15489334;16009940;17203973;17220478;17353931;18029348;18274552;18781797;19738201;2033077;20562859;21081666;21139048;21145461;21252943;21319273;21853274;21890473;21906983;21963094;21987572;22190034;22505724;22623428;22797925;22863883;22939629;22990118;23000965;23375620;23425968;23862649;24250222;24457600;24654937;24778252;24816145;25027693;2747635;3464105;7118399;7118437;7626230;8049265;8125298 6897 D6R9F8;D6RBR8;D6RCA5;D6RCS6;D6RDJ6;D6RHV7;D6RJ97;P26639 ABBA01066753;AC025441;AC034231;AK095852;AK222804;AK292346;AK293620;AK296783;AK308342;AK311361;AK315713;AMYH02011140;AW246273;BC000517;BC003699;BC010578;BC088355;BF028586;BG183397;CH471118;KF510921;M63180;NM_001258437;NM_001258438;NM_152295;NR_047676;NR_047677;NR_047678 AAB04939;AAH00517;AAH10578;AAH88355;ABM82342;ABM85516;ACE87131;BAD96524;BAF85035;BAG38072;BAG53144;BAG57079;BAG59361;EAX10803;EAX10804;NP_001245366;NP_001245367;NP_689508;P26639 Hs.481860 1725699;1775404;2107659;2117857;2134367;2134369;2190543 A001V01;EST23E6;G19676;G62112;RH35850;STS-T80838;TARS__5192 MGC9344;ThrRS OTTHUMP00000115851;OTTHUMP00000221016;OTTHUMP00000221018;threonine tRNA ligase 1, cytoplasmic;threonine--tRNA ligase;threonine--tRNA ligase, cytoplasmic;threonyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000113407 HGNC:11572 01762 187790 REVIEWED 732021 TAS1R1 taste receptor, type 1, member 1 The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 1 1 1 p36.23 5729206 5753685 + 6614987 6639817 + 6555278 6579757 + 6480464;8554872 10052456;11891061;11894099;11917125;12477932;12856281;15353592;16710414;17108952;17506496;17724330;19146926;19571223;19587085;19625681;19696921;19962942;20468064;20660057;21422378;21738478;22427794;24000232;24214976 80835 A8K7J9;H0Y6X0;H7C3W7;Q7RTX1 AB065618;ABBA01035456;ABBA01035457;ABBA01035458;AF387617;AF387618;AF387619;AF387620;AI742401;AK292014;AK293499;AK315805;AL591866;AMYH02000179;BC136515;BC136516;BK000153;CA426652;CH471130;CS250328;CS250330;CS250332;CS250334;NM_138697;NM_177540 AAI36516;AAI36517;AAL91358;AAL91359;AAL91360;AAL91361;BAC05845;BAF84703;BAG38146;BAG56985;CAJ58406;CAJ58407;CAJ58408;CAJ58409;DAA00012;EAW71551;EAW71552;EAW71553;EAW71554;NP_619642;NP_803884;Q7RTX1 Hs.124574 2112926;2134215 D1S3041;D1S3702 GM148;GPR70;T1R1;TR1 G protein-coupled receptor 70;G-protein coupled receptor 70;OTTHUMP00000001581;OTTHUMP00000001582;OTTHUMP00000001583;OTTHUMP00000001584;seven transmembrane helix receptor;taste receptor type 1 member 1 APPROVED protein-coding ENSG00000173662 HGNC:14448 06939 606225 REVIEWED 1353489 TAS1R2 taste receptor, type 1, member 2 ENCODES a protein that exhibits sweet taste receptor activity; taste receptor activity; INVOLVED IN detection of chemical stimulus involved in sensory perception of sweet taste; positive regulation of cytokinesis; sensory perception of sweet taste; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN receptor complex; INTERACTS WITH aspartame; crocidolite asbestos; sucrose 1 1 1 p36.13 17493580 17513453 - 19166093 19186155 - 18839599 18859661 - 1580863;6480464;8554872 10052456;11894099;11917125;12706725;12856281;14636554;16633339;16710414;16720576;17108952;17935609;19664591;20070850;20173092;20302879;20468064;20858777;20943793;21540445;22315413;23257979;23349025;23568457;24068707 80834 Q8TE23 ABBA01059746;ABBA01059747;AF458154;AL831755;AMYH02000416;BK000151;BX537160;CH471134;FB676145;FB701754;FB701764;NM_152232 AAI41438;AAM12239;CAS03327;CAS03332;CAS03501;DAA00019;EAW94857;NP_689418;Q8TE23 Hs.553548 1765331 SHGC-148823 GPR71;T1R2;TR2 G protein-coupled receptor 71;G-protein coupled receptor 71;OTTHUMP00000002543;sweet taste receptor T1R2;taste receptor type 1 member 2 protein-coding ENSG00000179002 HGNC:14905 06940 606226 VALIDATED 1344836 TAS1R3 taste receptor, type 1, member 3 The TAS1R3 gene encodes the human homolog of mouse Sac, a major determinant of differences between sweet-sensitive and -insensitive mouse strains in their responsiveness to sucrose, saccharine, and other sweeteners (Max et al., 2001 [PubMed 11326277]).[supplied by OMIM, Jan 2010] 1 1 1 p36.33 1311298 1314416 - 1266726 1269844 + 1330852 1334464 + 6480464 11319557;11326277;11894099;11917125;12706725;12892531;15299024;15353592;15585941;15668251;16633339;16710414;16720576;17108952;17499612;17928076;17935609;18539481;19083128;19146926;19559618;19571223;19587085;19664591;20302879;21324568;21422378;21540445;22427794;22450161;22773945;23370115;24068707;24214976 83756 Q7RTX0 AB065647;ABBA01016032;AC026283;AK122959;AL139287;AMYH02000094;BK000152;CH471183;CS448306;FB676147;FB701756;GM692547;HC305278;NM_152228;XM_006710939 AAI52913;BAC05873;CAL69810;CAS03328;CAS03502;CAV33588;CBJ18622;DAA00013;EAW56228;NP_689414;Q7RTX0;XP_006711002 Hs.74375 1665809;2146167;5023161 RH68255;SHGC-74072;hT1R3ex6.2 T1R3 OTTHUMP00000003108;sweet taste receptor T1R3;taste receptor type 1 member 3 APPROVED protein-coding HGNC:15661 605865 PROVISIONAL 1352499 TAS2R1 taste receptor, type 2, member 1 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is mapped to chromosome 5p15, the location of a genetic locus (PROP) that controls the detection of the bitter compound 6-n-propyl-2-thiouracil. [provided by RefSeq, Jul 2008] 5 5 5 p15 9669459 9670813 - 9629109 9630463 - 9628997 9630351 - 634075;1580863;6480464 10761934 10761935;10766221;10766242;10774719;11696554;12139982;12477932;12581520;15489334;15496549;15744053;19812673;20599705;21619450;21852241;22683571;23646285 50834 Q502V6;Q9NYW7;U3KPZ8;U3KQT0 AB198983;AB198984;AB198985;ABBA01020592;AC003015;AC026787;AC034214;AF227129;AMYH02010840;AY724812;BC095521;BC101729;BC101731;CH471102;CS008129;GM829120;NM_019599 AAF43902;AAH95521;AAI01730;AAI01732;AAU21051;BAD97889;BAD97890;BAD97891;CAI53516;CAV28563;EAX08075;NP_062545;Q9NYW7 Hs.567492 5493295;5493979 UniSTS:480624;UniSTS:485625 MGC126778;MGC126780;T2R1;TRB7 OTTHUMP00000115583;taste receptor family B member 7;taste receptor type 2 member 1;taste receptor, family B, member 7 APPROVED protein-coding ENSG00000169777 HGNC:14909 07267 604796 REVIEWED 1347690 TAS2R10 taste receptor, type 2, member 10 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16126257 16127180 - 10977945 10978868 - 10815927 10826556 - 634075;1580863;6480464;8554872 10761934 10761935;10766242;10774719;11696554;12139982;12477932;12581520;15489334;15496549;15744053;15759003;23283334 50839 Q50KS4;Q9NYW0 AB199073;AB199074;AB199075;ABBA01067807;AC006518;AF227136;AMYH02026029;BC069089;BC101762;BC101764;CH471094;CS008207;CS008213;GM829122;NM_023921;XM_006719082;XM_006725535;XM_006726236 AAF43909;AAH69089;AAI01763;AAI01765;BAD97974;BAD97975;BAD97976;CAI53555;CAI53558;CAV28564;EAW96211;NP_076410;Q9NYW0;XP_006719145;XP_006725598;XP_006726299 Hs.533756 1722467;2107661;5492431;5493343 G60157;TAS2R10__5195;UniSTS:481011;UniSTS:485786 MGC126811;MGC126813;T2R10;TRB2 OTTHUMP00000238877;taste receptor family B member 2;taste receptor type 2 member 10;taste receptor, family B, member 2 APPROVED protein-coding ENSG00000121318 HGNC:14918 11990 604791 REVIEWED 1353239 TAS2R12P taste receptor, type 2, member 12, pseudogene 12 12 12 p13.2 16195795 16196742 - 11047533 11048480 - 10894934 10895881 - 11696554;12139982;12581520;15496549;15744053 266656 ABBA01067808;AC006518;AMYH02026029;AX097717;AY724947;NG_005300 1652619 WI-11709 PS10;T2R12;TAS2R12;TAS2R26 taste receptor, type 2, member 12 APPROVED pseudo HGNC:19103 INFERRED 1344570 TAS2R13 taste receptor, type 2, member 13 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16208804 16210440 - 11060525 11062161 - 10907926 10909562 - 634075;1580863;6480464;8554872 10761934 10761935;10766242;10774719;11696554;12139982;12477932;12581520;15489334;15496549;15744053;17207965;20064487;22824251 50838 Q50KQ6;Q9NYV9 AB199106;AB199107;AB199108;ABBA01067808;AC006518;AF227137;AMYH02026029;BC069376;BC095518;BC115402;BC115403;CH471094;CS008215;NM_023920 AAF43910;AAH69376;AAH95518;AAI15403;ADQ32895;BAD97991;BAD97992;BAD97993;CAI53559;EAW96218;NP_076409;Q9NYV9 Hs.679407 5492427 UniSTS:481010 T2R13;TRB3 OTTHUMP00000239037;taste receptor family B member 3;taste receptor type 2 member 13;taste receptor, family B, member 3 APPROVED protein-coding ENSG00000212128 HGNC:14919 11991 604792 REVIEWED 1349558 TAS2R14 taste receptor, type 2, member 14 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16238874 16239827 - 11090853 11091806 - 10938254 10939207 - 634075;1580863;6480464 10761934 10761935;10766242;10774719;11696554;12139982;12477932;12581520;15489334;15496549;15744053;16335952;16720576;20534144;20930049;21942422 50840 Q6ZW62;Q9NYV8 AB199117;AB199118;AB199119;ABBA01067808;AC006518;AF227138;AK123548;AMYH02026029;BC069148;BC101993;BC101994;BC103699;CH471094;CS008219;NM_023922 AAF43911;AAH69148;AAI01994;AAI01995;AAI03700;BAC85643;BAD98002;BAD98003;BAD98004;CAI53561;EAW96222;NP_076411;Q9NYV8 Hs.679406;Hs.731575 1725929;2115363;2218814;5494009 G62373;SHGC-35693;TAS2R14__5197;UniSTS:480720 MGC125491;MGC125492;T2R14;TRB1 OTTHUMP00000222580;taste receptor family B member 1;taste receptor type 2 member 14;taste receptor, family B, member 1 APPROVED protein-coding HGNC:14920 11989 604790 REVIEWED 1352924 TAS2R15P taste receptor, type 2, member 15, pseudogene 12 12 12 p13.2 16265204 16265974 - 11117181 11117951 - 10964582 10965352 - 12679530;15496549;15744053 266657 ABBA01067808;AC006518;AMYH02026029;AX097723;AY724951;BK001065;NG_002788 PS8;T2R15;TAS2R15 taste receptor, type 2, member 15 APPROVED pseudo HGNC:19106 INFERRED 1348969 TAS2R18 taste receptor, type 2, member 18 266658 AX097728 1656276;2129410 G41794;RH78796 T2R18 protein-coding HGNC:19107 1343606 TAS2R16 taste receptor, type 2, member 16 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily. These family members are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008] 7 7 7 q31.1-q31.3 117439504 117440499 - 122634759 122635754 - 122994705 122995700 - 634075;1580863;6480464;7240710;8554872 10761934 10761935;10766221;10766242;10774719;11696554;12139982;12379855;12477932;12581520;12853948;15489334;15496549;15744053;15759003;16385453;16720576;17250611;18524836;20605788;20965151;21740153;23133589 50833 Q50KN6;Q9NYV7 AB199132;AB199133;AB199134;ABBA01057740;AC004838;AF227139;AMYH02016679;BC095524;CH236947;CH471070;CS008227;GM829126;NG_011980;NM_016945 AAF43912;AAH95524;AAP21892;BAD98011;BAD98012;BAD98013;CAI53565;CAV28566;EAL24338;EAW83581;NP_058641;Q9NYV7 Hs.272395 5493989 UniSTS:480662 T2R16 OTTHUMP00000211449;candidate taste receptor T2R16;taste receptor type 2 member 16 APPROVED protein-coding ENSG00000128519 HGNC:14921 05334 103780;604867 REVIEWED 1348917 TAS2R18P taste receptor, type 2, member 18, pseudogene 12 12 12 p13.2 16453881 16454800 - 11311375 11312293 - 11158776 11159694 - 12584440;12679530;15496549 338414 ABBA01067813;AC134349;AC245078;AX097728;AY114099;AY724948;BK001061;NG_002676 PS4;T2R18;T2R65;TAS2R18;TAS2R65;TAS2R65P APPROVED pseudo HGNC:19107 INFERRED 1353941 TAS2R19 taste receptor, type 2, member 19 p13.2 266659 AX097730 5493281 UniSTS:485590 T2R19 protein-coding HGNC:19108 613961 1343952 TAS2R20 taste receptor, type 2, member 20 p13.2 266660 AX097732 2106687;5492803 TAS2R49__5209;UniSTS:482681 T2R20 protein-coding HGNC:19109 613962 1346988 TAS2R19 taste receptor, type 2, member 19 INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane; INTERACTS WITH disodium selenite; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 p13.2 16322284 16323183 - 11174271 11175170 - 11021672 11022571 - 1580863;6480464;8554872 11696554;12139982;12379855;12477932;12581520;15489334;15496549;15744053;17081983;20675712 259294 P59542;Q50KF8;Q50KF9;Q71U75 AB199215;AB199216;AB199217;ABBA01067808;AC018630;AC245078;AF116728;AF494234;AX097730;AX097737;BC101804;BC111998;CH471094;CS008305;NM_176888 AAI01805;AAI11999;AAM19325;AAO15304;BAD98088;BAD98089;BAD98090;CAI53604;EAW96225;NP_795369;P59542 Hs.687025;Hs.688196 MGC126853;MGC138203;MSTP058;T2R19;T2R23;T2R48;TAS2R23 taste receptor type 2 member 19;taste receptor type 2 member 23;taste receptor type 2 member 48;taste receptor, type 2, member 23 APPROVED protein-coding ENSG00000212124 HGNC:19108 18156 613961 PROVISIONAL 1348945 TAS2R22 taste receptor, type 2, member 22 266661 AX097735 T2R22 miscrna HGNC:19110 1350205 TAS2R20 taste receptor, type 2, member 20 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); sensory perception of taste (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH aflatoxin B1; MeIQx; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 p13.2 16296576 16298489 - 11148561 11150474 - 10995962 10997875 - 1580863;6480464 11696554;12139982;12379855;12477932;12581520;12584440;15489334;15496549;15744053 259295 P59543;Q496D7;Q50KF2;Q50KF3;Q50KF4 AB199221;AB199222;AB199223;ABBA01067808;AC018630;AC245078;AF494236;AX097732;AY114092;BC100915;BC100916;BC100917;BC100918;BC113843;BC114451;CH471094;CS008321;N24163;NM_176889 AAI00916;AAI00917;AAI00918;AAI00919;AAI13844;AAI14452;AAM19327;AAM63542;BAD98094;BAD98095;BAD98096;CAI53612;EAW96224;NP_795370;P59543 Hs.686384 MGC119118;MGC119119;MGC119120;MGC119121;MGC134637;T2R20;T2R49;T2R56;TAS2R49 taste receptor type 2 member 20;taste receptor type 2 member 49;taste receptor type 2 member 56;taste receptor, type 2, member 49 APPROVED protein-coding HGNC:19109 18157 613962 VALIDATED 1352038 TAS2R23 taste receptor, type 2, member 23 266662 AX097737 T2R23 protein-coding HGNC:19111 1345631 TAS2R3 taste receptor, type 2, member 3 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless taste receptor genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008] 7 7 7 q31.3-q32 136185522 136186622 + 141463897 141464997 + 141764097 141765197 + 1580863;6480464 10761934;10761935;10766221;10766242;10774719;11437385;11696554;12139982;12477932;12581520;12690205;12853948;15489334;15496549;15744053;19372376;22397221;23568457 50831 Q50KZ1;Q9NYW6 AB199002;AB199003;AB199004;ABBA01034110;AC004979;AF227130;AMYH02016923;AY724961;BC069337;BC095523;CH236950;CH471070;CS008135;CS300826;NM_016943 AAF43903;AAH69337;AAH95523;AAS02038;AAU21157;BAD97907;BAD97908;BAD97909;CAI53519;CAK32490;EAL24017;EAW83982;NP_058639;Q9NYW6 Hs.676011 5492511 UniSTS:481405 T2R3 OTTHUMP00000212312;candidate taste receptor T2R3;taste receptor type 2 member 3 APPROVED protein-coding ENSG00000127362 HGNC:14910 05335 604868 REVIEWED 1343190 TAS2R30 taste receptor, type 2, member 30 ENCODES a protein that exhibits bitter taste receptor activity; INVOLVED IN detection of chemical stimulus involved in sensory perception of bitter taste; FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 12 12 12 p13.2 16428454 16429413 - 11285884 11286843 - 11133285 11134244 - 1580863;6480464 11696554;12139982;12379855;12581520;15496549;15744053 259293 P59541;Q50KG7 AB199208;ABBA01067813;AC018630;AC245078;AF494233;AX097746;CS008297;NM_001097643 AAI56866;AAM19324;BAD98081;CAI53600;NP_001091112;P59541 Hs.679464 T2R30;T2R47;TAS2R47 taste receptor T2R47;taste receptor type 2 member 30;taste receptor type 2 member 47;taste receptor, type 2, member 47;type 2 taste receptor member 30;type 2 taste receptor member 47 APPROVED protein-coding HGNC:19112 613963 PROVISIONAL 1349734 TAS2R2P taste receptor, type 2, member 2, pseudogene 7 7 7 p21.3 12507995 12508904 + 12530721 12531630 + 12491095 12492004 + 15496549;15744053 338396 ABBA01056570;AC013470;AMYH02015244;AX097698;AY724965;CH236948;NG_005302 PS9;T2R02;T2R2;TAS2R2 taste receptor, type 2, member 2 APPROVED pseudo HGNC:20615 INFERRED 1350051 TAS2R30 taste receptor, type 2, member 30 266663 AX097746 2183380 D12S1123 T2R30 protein-coding HGNC:19112 613963 1345755 TAS2R31 taste receptor, type 2, member 31 TAS2R44 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009] 12 12 12 p13.2 16331003 16332023 - 11182986 11184006 - 11030387 11031407 - 1580863;6480464 11696554;12139982;12379855;12477932;12581520;12584440;15337684;15489334;15496549;15537898;17702579;21672920 259290 P59538 ABBA01067808;AC018630;AC245078;AF494228;AX097748;AY114090;BC117421;CH471094;CS008275;CS008277;GM829118;HC289506;NM_176885 AAI17422;AAM19319;AAM63540;ADR83123;CAI53589;CAI53590;CAV28562;CBJ06463;EAW96226;NP_795366;P59538 Hs.688197 T2R31;T2R44;T2R53;TAS2R44 taste receptor type 2 member 31;taste receptor type 2 member 44;taste receptor type 2 member 53;taste receptor, type 2, member 44 APPROVED protein-coding ENSG00000256436 HGNC:19113 18153 612669 PROVISIONAL 1353388 TAS2R31 taste receptor, type 2, member 31 266664 AX097748 2218816 TAS2R44__5206 T2R31 protein-coding HGNC:19113 612669 1346808 TAS2R33 taste receptor, type 2, member 33 266665 AX097751 T2R33 protein-coding HGNC:19114 1353414 TAS2R36 taste receptor, type 2, member 36 266666 AX097755 T2R36 protein-coding HGNC:19115 1344875 TAS2R37 taste receptor, type 2, member 37 266667 AX097757 T2R37 protein-coding HGNC:19116 1346793 TAS2R38 taste receptor, type 2, member 38 This gene encodes a seven-transmembrane G protein-coupled receptor that controls the ability to taste glucosinolates, a family of bitter-tasting compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this receptor and have been used to test the genetic diversity of this gene. Although several allelic forms of this gene have been identified worldwide, there are two predominant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulting in amino acid changes in the protein (A49P, A262V, and V296I) with the amino acid combination PAV identifying the taster variant (and AVI identifying the non-taster variant). [provided by RefSeq, Oct 2009] 7 7 7 q34 136393776 136394918 - 141672431 141673573 - 141972631 141973773 - 1580863;6480464;7240710;8554872 11696554;12139982;12379855;12477932;12581520;12584440;12595690;12624758;12690205;14997422;15337684;15466815;15489334;15496549;15687429;15733260;15744053;15883422;16298720;16607493;16979544;17250611;17662150;18209019;18393128;18524836;18712160;18719631;19779476;19782709;19913121;20484932;20551074;20594349;20628086;20675712;20858777;21147709;21338274;21674048;21712049;21763010;21769326;22130969;22440514;22792271;22794107;22955840;23041624;23322450;23535535;23568457;23966204;23980393;24025627;24040192;24312479;24418005;6745938 5726 P59533;Q86UK4 AB199146;AB199147;AB199148;ABBA01034115;AC073647;AF494231;AMYH02016929;AY114095;AY258597;AY258598;BC104933;BC104937;CH236950;CH471070;CS008241;CS008247;NG_016141;NM_176817 AAI04934;AAI04938;AAM19322;AAM63545;AAP14666;AAP14667;BAD98025;BAD98026;BAD98027;CAI53572;CAI53575;EAL24011;EAW83993;NP_789787;P59533 Hs.647085 1727369;2107663;5493673 G63092;TAS2R38__5200;UniSTS:490162 PTC;T2R38;T2R61 OTTHUMP00000212847;PTC bitter taste receptor;taste receptor type 2 member 38;taste receptor type 2 member 61 APPROVED protein-coding ENSG00000257138 HGNC:9584 09672 171200;607751 REVIEWED 1350058 TAS2R39 taste receptor, type 2, member 39 ENCODES a protein that exhibits bitter taste receptor activity; INVOLVED IN detection of chemical stimulus involved in sensory perception of bitter taste; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH crocidolite asbestos; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 q34 137717381 137718397 + 142880512 142881528 + 143183419 143184435 + 1580863;6480464;8554872 11696554;12139982;12379855;12477932;12581520;15489334;15496549;15744053;21272567;21670512;21942422 259285 P59534;Q50KL2 AB199156;AB199157;AB199158;ABBA01034134;AC073342;AF494230;AMYH02016932;BC100947;BC100948;BC114952;CH236959;CH471198;CS008249;NM_176881 AAI00948;AAI00949;AAI14953;AAI60088;AAM19321;BAD98035;BAD98036;BAD98037;CAI53576;EAW51884;EAW51885;EAW51886;NP_795362;P59534 Hs.553660 2107665;5492805 TAS2R39__5201;UniSTS:482679 T2R39;T2R57 OTTHUMP00000202102;taste receptor type 2 member 39;taste receptor type 2 member 57 protein-coding ENSG00000236398 HGNC:18886 18149 PROVISIONAL 1351253 TAS2R40 taste receptor, type 2, member 40 ENCODES a protein that exhibits bitter taste receptor activity; INVOLVED IN detection of chemical stimulus involved in sensory perception of bitter taste; FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH arsenite(3-); crocidolite asbestos; zinc sulfate 7 7 7 q34 137756043 137757014 + 142919172 142920143 + 143222079 143223050 + 1580863;6480464 11696554;12139982;12379855;12477932;12581520;12690205;15489334;15496549;15744053;23333304 259286 P59535;Q50KK6 AB199167;AB199168;AB199169;ABBA01034134;AC073342;AF494229;AMYH02016933;BC101795;BC101797;CH236959;CH471198;CS008253;NM_176882 AAI01796;AAI01798;AAM19320;BAD98041;BAD98042;BAD98043;CAI53578;EAL23782;EAW51882;NP_795363;P59535 Hs.352241 5493367 UniSTS:485863 GPR60;MGC126844;MGC126846;T2R40;T2R58 G protein-coupled receptor 60;G-protein coupled receptor 60;OTTHUMP00000202106;taste receptor type 2 member 40;taste receptor type 2 member 58 protein-coding ENSG00000221937 HGNC:18885 18150 613964 PROVISIONAL 1342891 TAS2R4 taste receptor, type 2, member 4 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008] 7 7 7 q31.3-q32 136199919 136200818 + 141478289 141479188 + 141778489 141779388 + 634075;1580863;6480464 10761934 10761935;10766221;10766242;10774719;11437385;11696554;12139982;12477932;12581520;12853948;15496549;15744053;22794107;23159609;23568457 50832 Q50KX7;Q9NYW5 AB199016;AB199017;AB199018;ABBA01034110;AC004979;AF227131;AJ415015;AJ415131;AJ415288;AJ415400;AMYH02016923;BC130439;BC136508;CH236950;CH471070;CS008143;NM_016944 AAF43904;AAI30440;AAI36509;AAS02039;ADR83126;BAD97921;BAD97922;BAD97923;CAC94173;CAC94265;CAC94358;CAC94451;CAI53523;EAL24016;EAW83983;NP_058640;Q9NYW5 Hs.735690 2107667;5493725;5493991 TAS2R4__5202;UniSTS:480661;UniSTS:494134 MGC163311;T2R4 OTTHUMP00000212311;candidate taste receptor T2R4;taste receptor type 2 member 4 APPROVED protein-coding HGNC:14911 05336 604869 REVIEWED 1344406 TAS2R42 taste receptor, type 2, member 42 INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane 12 12 12 p13 16481007 16481951 - 11338599 11339543 - 11185993 11186937 - 12477932;12679530;15496549;15744053;16541075;22397221;23632330 353164 Q50KD6;Q7RTR8 AB199240;AB199241;AB199242;ABBA01067813;AC010176;AC244131;AX097739;AY724953;BC131742;BK001099;CH471094;NM_181429 AAI31743;AAU21149;BAD98112;BAD98113;BAD98114;DAA01206;EAW96229;NP_852094;Q7RTR8 Hs.553716 2110099 hT2R55__6612 T2R24;T2R42;T2R55;TAS2R55;hT2R55 OTTHUMP00000239042;candidate taste receptor hT2R55;taste receptor T2R55;taste receptor type 2 member 42;taste receptor type 2 member 55 protein-coding ENSG00000186136 HGNC:18888 18137 613966 VALIDATED 1346884 TAS2R43 taste receptor, type 2, member 43 TAS2R43 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009] 12 12 12 p13.2 14793832 14794856 + 11243886 11244912 - 11091287 11092313 - 1580863;6480464 11696554;12139982;12379855;12477932;12581520;12584440;15489334;15496549;15537898;15744053;16720576;17702579;19628819;22397221;22964302;23050764 259289 P59537;Q50KJ2 AB199182;ABBA01067811;AC018630;AC242308;AC245078;AF494237;AY114089;BC101155;BC117423;NM_176884;XM_003960991;XM_006726537 AAI01156;AAI17424;AAM19328;AAM63539;BAD98056;NP_795365;P59537;XP_003961040;XP_006726600 Hs.688195 T2R43;T2R52 OTTHUMP00000229432;taste receptor type 2 member 43;taste receptor type 2 member 52 APPROVED protein-coding ENSG00000255374 HGNC:18875 18152 612668 PROVISIONAL 1349656 TAS2R45 taste receptor, type 2, member 45 INVOLVED IN G-protein coupled receptor signaling pathway (inferred); FOUND IN integral component of membrane; INTERACTS WITH clorgyline; crocidolite asbestos 12 12 12 16392023 16392922 - 327525 328424 - 327525 328424 - 1580863;6480464 11696554;12139982;12379855;12477932;12581520;15744053 259291 P59539;Q9HD50 AB199191;AB199192;ABBA01067813;AC217021;AF264628;AF494226;BC101154;BC101156;CH471094;NM_176886 AAG03020;AAI01155;AAI01157;AAM19317;BAD98065;BAD98066;EAW96228;NP_795367;P59539 Hs.287378 5493089;5493091 UniSTS:484184;UniSTS:484185 GPR59;MGC119923;MGC119924;MGC119925;T2R45;ZG24P G protein-coupled receptor 59;G-protein coupled receptor 59;taste receptor type 2 member 45 protein-coding HGNC:18876 18154 613967 VALIDATED 1353850 TAS2R41 taste receptor, type 2, member 41 INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane; INTERACTS WITH copper(2+) sulfate; crocidolite asbestos; lead(0) 7 7 7 q35 138012198 138013121 + 143174966 143175889 + 143477873 143478796 + 1580863;6480464;8554872 11696554;12139982;12379855;12477932;12581520;12584440;15496549;15744053 259287 P59536 AB199177;AB199178;AB199179;ABBA01034137;AC073264;AF494232;AMYH02016936;AY114093;BC101157;BC101158;CH236959;CS008263;CS008267;NM_176883 AAI01158;AAI01159;AAM19323;AAM63543;BAD98051;BAD98052;BAD98053;CAI53583;CAI53585;NP_795364;P59536 Hs.650648 5493085 UniSTS:484183 MGC119928;MGC119929;T2R41;T2R59 OTTHUMP00000208853;taste receptor type 2 member 41;taste receptor type 2 member 59 protein-coding ENSG00000221855 HGNC:18883 18151 613965 PROVISIONAL 1353935 TAS2R46 taste receptor, type 2, member 46 TAS2R46 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Sep 2009] 12 12 12 p13.2 16363837 16364766 - 11213964 11214893 - 11061365 11062294 - 1580863;6480464 11696554;12139982;12379855;12477932;12581520;12584440;15496549;15744053;23520545 259292 P59540;Q50KH1 AB199204;AB199205;ABBA01067809;AC018630;AC245078;AF494227;AY114091;BC115401;CH471094;CS008289;GM829124;NM_176887 AAM19318;AAM63541;BAD98077;BAD98078;CAI53596;CAV28565;EAW96227;NP_795368;P59540 Hs.688193 5493089;5493091 UniSTS:484184;UniSTS:484185 MGC134865;T2R46;T2R54 OTTHUMP00000229430;taste receptor type 2 member 46;taste receptor type 2 member 54 APPROVED protein-coding ENSG00000226761 HGNC:18877 18155 612774 VALIDATED 1353421 TAS2R5 taste receptor, type 2, member 5 This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008] 7 7 7 q31.3-q32 136211655 136212804 + 141487129 141491338 + 141790217 141791366 + 1580863;6480464;8554872 10737800;10761934;10761935;10766221;10766242;10774719;11696554;12139982;12477932;12581520;12690205;12853948;15489334;15496549;15744053;17108952;17207965;23568457 54429 A4D1U0;Q502V5;Q9NYW4 AB199028;AB199029;AB199030;ABBA01034110;AC004979;AF227132;AMYH02016923;AW881072;BC069509;BC095522;BC101586;BC101588;CH236950;CH471070;CS008155;NM_018980 AAF43905;AAH69509;AAH95522;AAI01587;AAI01589;AAS02040;ADQ32871;BAD97933;BAD97934;BAD97935;CAI53529;EAL24015;EAW83984;NP_061853;Q9NYW4 Hs.675370 5493357;5493977 UniSTS:480616;UniSTS:485833 MGC126635;MGC126637;T2R5 OTTHUMP00000212310;taste receptor type 2 member 5 APPROVED protein-coding ENSG00000127366 HGNC:14912 05453 605062 REVIEWED 1347652 TAS2R60 taste receptor, type 2, member 60 INVOLVED IN G-protein coupled receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane; INTERACTS WITH ammonium chloride (ortholog); pirinixic acid (ortholog) 7 7 7 q35 137977775 137978731 + 143140546 143141502 + 143443453 143444409 + 1580863;6480464;8554872 11696554;12139982;12477932;12581520;12584440;12679530;12690205;15489334;15496549;15744053 338398 P59551;Q50KC8 AB199253;AB199254;AB199255;ABBA01034137;AC092214;AMYH02016935;AY114094;AY724955;BC100938;BC100939;BC100940;BC100941;BK001100;CH236959;CS008343;NM_177437 AAI00939;AAI00940;AAI00941;AAM63544;AAU21151;BAD98119;BAD98120;BAD98121;CAI53623;DAA01207;EAL23790;NP_803186;P59551 Hs.688222 2106689;5493087 TAS2R60__5212;UniSTS:484188 MGC119154;MGC119155;T2R56;T2R60 OTTHUMP00000206897;taste receptor type 2 member 56;taste receptor type 2 member 60 protein-coding ENSG00000185899 HGNC:20639 18159 613968 PROVISIONAL 1347594 TAS2R50 taste receptor, type 2, member 50 TAS2R50 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). See also TAS2R10 (MIM 604791).[supplied by OMIM, Mar 2008] 12 12 12 p13.2 16286527 16287526 - 11138512 11139511 - 10985913 10986912 - 1580863;6480464 11696554;12139982;12379855;12477932;12581520;12584440;15489334;15496549;15744053;16175505;17967605;17975119;19023099;19709766;19817411;22192511 259296 P59544;Q50KE4 AB199231;AB199232;AB199233;ABBA01067808;AC018630;AC245078;AF494235;AY114088;BC112100;CH471094;CS008125;CS008335;CS008337;NM_176890 AAI12101;AAM19326;AAM63538;BAD98104;BAD98105;BAD98106;CAI53514;CAI53619;CAI53620;EAW96223;NP_795371;P59544 Hs.688194 2218818 TAS2R50__5211 MGC138305;T2R50;T2R51;TAS2R51 OTTHUMP00000222578;taste receptor type 2 member 50;taste receptor type 2 member 51 APPROVED protein-coding ENSG00000212126 HGNC:18882 18158 609627 VALIDATED 1342939 TAS2R62P taste receptor, type 2, member 62, pseudogene 7 7 7 q35 137971357 137972295 + 143134128 143135066 + 143437035 143437973 + 12584440;12679530;15496549 338399 ABBA01034137;AC092214;AMYH02016935;AY114096;AY724964;BK001058;CH236959;NG_002653 PS1;T2R62;TAS2R62 APPROVED pseudo HGNC:20640 INFERRED 1345577 TAS2R63P taste receptor, type 2, member 63, pseudogene 12 12 12 p13.2 16348994 16349878 - 11200956 11201855 - 11048357 11049256 - 12584440;12679530;15496549 338413 ABBA01067809;AC018630;AC245078;AY114097;AY724950;BK001063;NG_002675 1704224 SHGC-83138 PS6;T2R63 APPROVED pseudo HGNC:20641 INFERRED 1351930 TAS2R64P taste receptor, type 2, member 64, pseudogene 12 12 12 p13.2 14815892 14816821 + 11229944 11230841 - 11077345 11078242 - 12584440;12679530;15496549 338412 ABBA01067811;AC018630;AY114098;AY724952;BK001059;NG_002674 PS2;T2R64;T2R64P APPROVED pseudo HGNC:20642 INFERRED 6482901 TAS2R67P taste receptor, type 2, member 67 pseudogene 12 12 12 p13.2 16474551 16475473 - 11332139 11333061 - 11179541 11180462 - 12679530;15496549 448991 ABBA01067813;AC010176;AC244131;AC245078;AY724949;BK001062;NG_004701 PS5 pseudo HGNC:43898 INFERRED 6482900 TAS2R68P taste receptor, type 2, member 68 pseudogene 12 12 314043 314987 - 314043 314987 - 12679530;15496549;15744053 100653053 AB199304;ABBA01067813;AC242308;AY724934;BK001064;NG_004699 PS7;T2R68P pseudo HGNC:43905 INFERRED 1351386 TAS2R6P taste receptor, type 2, member 6, pseudogene 7 7 7 q34 136209252 136210074 + 141487614 141488436 + 141787814 141788636 + 12679530;15496549 448990 ABBA01034110;AC004979;AMYH02016923;AX097706;AY724963;BK001060;CH236950;NG_004700 PS3;T2R06;T2R6;TAS2R6 APPROVED pseudo HGNC:20616 INFERRED 1347137 TAS2R7 taste receptor, type 2, member 7 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16102458 16103553 - 10954131 10955226 - 10801532 10802627 - 634075;1580863;6480464;8554872 10761934 10761935;10766242;10774719;11696554;12139982;12477932;12581520;15489334;15496549;15744053 50837 Q50KV7;Q9NYW3 AB199037;AB199038;AB199039;ABBA01067807;AC006518;AF227133;AMYH02026029;BC069091;BC093992;BC113561;CH471094;CS008169;NM_023919 AAF43906;AAH69091;AAH93992;AAI13562;BAD97941;BAD97942;BAD97943;CAI53536;EAW96208;NP_076408;Q9NYW3 Hs.533754 2106691;5493275;5494007 TAS2R7__5213;UniSTS:480718;UniSTS:485587 MGC142121;T2R7;TRB4 OTTHUMP00000238874;taste receptor family B member 4;taste receptor type 2 member 7;taste receptor, family B, member 4 APPROVED protein-coding ENSG00000121377 HGNC:14913 16071 604793 REVIEWED 1344558 TAS2R8 taste receptor, type 2, member 8 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16106977 16107906 - 10958650 10959579 - 10806051 10806980 - 634075;1580863;6480464;8554872 10761934 10761935;10766242;10774719;11696554;12139982;12477932;12581520;15489334;15496549;15744053;17207965;21670512 50836 Q50KU2;Q9NYW2 AB199051;AB199052;AB199053;ABBA01067807;AC006518;AF227134;AMYH02026029;AY724935;BC069084;BC069551;BC096701;BC096735;BC098167;BC098353;CH471094;CS008179;NM_023918 AAF43907;AAH69084;AAH69551;AAH96701;AAH96735;AAH98167;AAH98353;AAU21137;ADQ31922;BAD97955;BAD97956;BAD97957;CAI53541;EAW96209;NP_076407;Q9NYW2 Hs.533755 2106693;5492425 TAS2R8__5214;UniSTS:481009 T2R8;TRB5 OTTHUMP00000238875;taste receptor family B member 5;taste receptor type 2 member 8;taste receptor, family B, member 5 APPROVED protein-coding HGNC:14915 16072 604794 REVIEWED 1342904 TAS2R9 taste receptor, type 2, member 9 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16110019 16111093 - 10961693 10962767 - 10809094 10810168 - 634075;1580863;6480464;8554872 10761934 10761935;10766242;10774719;11696554;12139982;12477932;12581520;15489334;15496549;15744053;19092995 50835 Q9NYW1 AB199063;AB199064;AB199065;ABBA01067807;AC006518;AF227135;AMYH02026029;BC069066;BC095519;CH471094;CS008191;NM_023917 AAF43908;AAH69066;AAH95519;BAD97966;BAD97967;BAD97968;CAI53547;EAW96210;NP_076406;Q9NYW1 Hs.272391 2108957;5492533 TAS2R9__5215.2;UniSTS:481515 T2R9;TRB6 OTTHUMP00000238876;taste receptor family B member 6;taste receptor type 2 member 9;taste receptor, family B, member 6 APPROVED protein-coding ENSG00000121381 HGNC:14917 07266 604795 REVIEWED 736963 TAT tyrosine aminotransferase This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible mental retardation. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 55916606 55926850 - 71600754 71610998 - 71566851 71577095 - 1600125;1580863;1300048;6480464;6484113;6907045;7240710;8554872;8699517 1357662 12417987;12477932;12588988;1356171;15027097;16574453;16892178;16917729;18721127;18945316;1973834;20209601;21636300;22286219;22916037;23311648;23954227;24722188;2870018;2891604;4389443;6124417;7908801;7999802;9544843 6898 P17735;Q8WW92 ABBA01016778;AC010547;AK313380;AMYH02032316;BC020707;BC022292;BC130534;CH471166;NG_008235;NM_000353;X52509;X52520;X55675 AAH20707;AAI30535;ADR82987;BAG36178;CAA36749;CAA36750;CAA39210;EAW59230;EAW59231;NP_000344;P17735 Hs.161640 1668040;1706380;2110771;2168040;5118444;5120215;5491667 D11S3316;G10523;GDB:210937;MARC_7235-7236:996687672:1;SHGC-11957;SHGC-80760;TAT__5216 L-tyrosine:2-oxoglutarate aminotransferase;OTTHUMP00000174923;tyrosine aminotransferase, cytosolic APPROVED protein-coding HGNC:11573 11776 276600;613018 REVIEWED 1318453 TASP1 taspase, threonine aspartase, 1 This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 p12.1 13440107 13689648 - 13370036 13619583 - 13389389 13638936 - 6480464;8554872 11780052;12393701;12477932;12482972;14636557;14702039;15489334;16216576;16537915;18395097;20516119;21084304;21418451;21832049;22570686 55617 H7BZ38;Q5JWM4;Q9H6P5 ABBA01053964;ABBA01053965;ABBA01053966;ABBA01053967;AK000219;AK025671;AK299940;AK304488;AK316311;AL121754;AL121782;AL158089;AL601028;AMYH02036721;BC025266;CA418131;CH471133;CS001898;HB869056;HC926465;NM_017714;XM_006723589;XM_006723590;XR_430268 AAH25266;BAA91018;BAB15209;BAH13176;BAH14199;BAH14682;CBF58493;CBU83928;EAX10314;EAX10315;EAX10316;EAX10317;NP_060184;Q9H6P5;XP_006723652;XP_006723653 Hs.348297 1335962;1341421;2146073;2157169;7187992 D20S172;D20S774;D20S915;Z94458 C20orf13;FLJ20212;MGC39159;dJ585I14.2 OTTHUMP00000030296;OTTHUMP00000030299;taspase 1;taspase-1;threonine aspartase 1 APPROVED protein-coding ENSG00000089123 HGNC:15859 07460 608270 REVIEWED 7240975 TATDN1P1 TatD DNase domain containing 1 pseudogene 1 10 10 10 q21.3 58249404 58250414 + 64981884 64982894 + 63222124 63223134 + 728737 ABBA01019497;AL607128;AMYH02023200;NG_011726 1678787 RH80661 pseudo HGNC:45058 INFERRED 1313148 TATDN1 TatD DNase domain containing 1 ENCODES a protein that exhibits endodeoxyribonuclease activity, producing 5'-phosphomonoesters (inferred); metal ion binding (inferred); INVOLVED IN DNA catabolic process, endonucleolytic (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; dimethyl sulfoxide; hydrogen peroxide 8 8 8 q24.13 121688850 121739446 - 125500735 125551329 - 124488494 124539090 - 737633;6480464 12477932 14702039;14713272;18976975;21906983;21963094;22863883;23000965 83940 E5RG17;E5RG62;E5RGF2;E5RH86;E5RI69;E5RID7;E5RJY6;E5RK70;G5EA19;H0YBX2;Q6P1N9;U3KQS5 ABBA01037898;ABBA01037899;ABBA01037900;AC090198;AF212250;AK094861;AK125270;AK312204;AMYH02018718;AMYH02018719;AV729364;AY071865;BC007066;BC064964;CH471060;NM_001146160;NM_032026;NR_027427;XM_006716665;XM_006716666;XM_006716667;XM_006716668;XM_006716669;XM_006716670;XM_006716671;XR_428386 AAH64964;AAK14933;AAL61823;BAG35137;EAW92065;EAW92066;EAW92067;NP_001139632;NP_114415;Q6P1N9;XP_006716728;XP_006716729;XP_006716730;XP_006716731;XP_006716732;XP_006716733;XP_006716734 Hs.170568 1678787;1686828;1756011;2161666;2185776;5022322;5022578;5022651;5024761;5093848;5109281 A009X39;D11S2560;D11S2921;D1S1423;D1S1425;G32960;RH36225;RH36905;RH80661;RH99052;SHGC-142827 CDA11;FLJ43280 OTTHUMP00000228327;OTTHUMP00000228328;OTTHUMP00000228329;OTTHUMP00000228330;OTTHUMP00000228331;OTTHUMP00000228335;hepatocarcinoma high expression protein;putative deoxyribonuclease TATDN1 protein-coding ENSG00000147687 HGNC:24220 11621 VALIDATED 1349644 TATDN2 TatD DNase domain containing 2 ENCODES a protein that exhibits endodeoxyribonuclease activity, producing 5'-phosphomonoesters (inferred); metal ion binding (inferred); INVOLVED IN activation of signaling protein activity involved in unfolded protein response (inferred); cellular protein metabolic process (inferred); DNA catabolic process, endonucleolytic (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleoplasm (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; coumestrol 3 3 3 p25.3 10225985 10258714 + 10290177 10322906 + 10248493 10281222 + 1580863;6480464;8554872 12477932;15302935;15342556;16751776;18954468;20800603;21963094;22990118;9039502 9797 H7BZJ2;H7C1D0;H7C1W4;Q93075 ABBA01020381;ABBA01020382;AC022384;AK289794;AK311203;AMYH02006254;AMYH02006255;AW274827;BC090935;BC101770;BC101776;BG674405;BP249277;CH471055;D86972;NM_014760 AAH90935;AAI01771;AAI01777;BAA13208;BAF82483;EAW64070;EAW64071;EAW64072;NP_055575;Q93075 Hs.475401 1735140;1735142;1735240;1773933;1847394;2106695;2117132;2159038 D3S2801E;D3S2802E;D3S2847E;D3S2905E;G31034;RH25425;RH47463;TATDN2__5217 KIAA0218;MGC126819;MGC126825 OTTHUMP00000207800;OTTHUMP00000207801;OTTHUMP00000207802;OTTHUMP00000207804;putative deoxyribonuclease TATDN2 protein-coding ENSG00000157014 HGNC:28988 18712 VALIDATED 4889221 TATDN2P1 TatD DNase domain containing 2 pseudogene 1 X X X p11.3 48283082 48285655 + 44143312 44145885 + 44284066 44286639 + 100131103 ABBA01046390;ABBA01046391;AL133344;AMYH02039235;NG_011742;NG_021391 FLJ22843 pseudo HGNC:39254 INFERRED 4889287 TATDN2P2 TatD DNase domain containing 2 pseudogene 2 6 6 6 q25 159678358 159680742 - 159030360 159032744 - 158609328 158611712 - 100272205 ABBA01021087;AL591025;AMYH02014852;NG_011739 KIAA0218 pseudo HGNC:39255 INFERRED 4889242 TATDN2P3 TatD DNase domain containing 2 pseudogene 3 13 13 13 4882052 4884323 + 23819046 23821320 + 23244907 23247181 + 100420458 ABBA01007872;AL160256;AMYH02027690;NG_024898 pseudo HGNC:39256 INFERRED 1604534 TATDN3 TatD DNase domain containing 3 ENCODES a protein that exhibits endodeoxyribonuclease activity, producing 5'-phosphomonoesters (inferred); metal ion binding (inferred); INVOLVED IN DNA catabolic process, endonucleolytic (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (inferred); nucleus (inferred); INTERACTS WITH afimoxifene; copper(2+) sulfate; paracetamol (ortholog) 1 1 1 q32.3 186191182 186216161 + 212965170 212990167 + 212791828 212816825 + 6480464;8554872 12136098;12477932;16344560;16712791;20877624 128387 E9PP81;E9PPF0;E9PQP8;E9PRA1;H0YCC7;H0YCN0;H0YD82;Q17R31;U3KQ29 ABBA01048165;AC104333;AI990055;AJ329885;AK293129;AK295335;AK304557;AL832248;AMYH02002650;BC048115;BC113638;BC117485;BC143956;BC143957;CB118191;CH471100;DB351940;DB456872;NM_001042552;NM_001042553;NM_001146169;NM_001146170;NM_001146171 AAH48115;AAI13639;AAI17486;AAI43957;ADR82915;BAH11457;BAH12035;BAH14214;EAW93376;EAW93377;EAW93378;NP_001036017;NP_001036018;NP_001139641;NP_001139642;NP_001139643;Q17R31 Hs.530538 1769357;2148758;5015881;5022450;5022623 AL009938;D10S275;D11S2687;GDB:335751;SHGC-76326 MGC142198 OTTHUMP00000034926;OTTHUMP00000034927;OTTHUMP00000231058;OTTHUMP00000231060;OTTHUMP00000231061;OTTHUMP00000231071;OTTHUMP00000231080;putative deoxyribonuclease TATDN3 protein-coding ENSG00000203705 HGNC:27010 VALIDATED 1348047 TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1 This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] 7 7 7 p15 27768341 27859338 + 27778992 27869386 + 27739373 27829767 + 6480464;7800734;7800735 21119682;23312890 10435631;10920205;11076863;11230166;11389905;11893730;12477932;12690205;12853948;14530271;14697242;15231748;15342556;15474016;15489334;15489336;16169070;16381901;16999686;17623298;17635994;17703191;18239685;18246070;18434448;19131965;19285159;19609363;19820708;20185725;20304918;20549079;20734064;21139048;21282516;21885437;21890473;21906983;21987572;21988832;22997707;23000965;23018911;23209807;23308279;23383273;23503661;24816145;8889548;9733879;9847074 8887 A4D196;B4DSG5;B8ZZD4;C9J7J4;C9JBZ7;F8WBU9;H7C3L5;Q86VP1;V9GZ06 AA481381;ABBA01056775;ABBA01056776;AC004549;AC005091;AF090891;AF268075;AK000098;AK296720;AK299729;AK301064;AK309757;AK314292;AL136586;AMYH02015419;AMYH02015420;AMYH02015421;AMYH02015422;BC024600;BC050358;BP280714;BU679319;CH236948;CH471073;CR457056;CR533556;DB455556;DB553566;DC424592;NG_029523;NM_001079864;NM_001206901;NM_001206902;NM_006024;U33821;XM_005249900 AAA75595;AAC13359;AAD15412;AAF24016;AAG03025;AAH50358;BAG36949;BAG59309;BAG61627;BAG62671;CAB66521;CAG33337;CAG38587;CAL38710;EAL24213;EAW93901;EAW93902;EAW93903;EAW93904;NP_001073333;NP_001193830;NP_001193831;NP_006015;Q86VP1;XP_005249957 Hs.34576 1336889;1648188;1798240;2164718;2166568;2174271;2176661;7184891 A007A09;D7S2416;RH65631;SGC31789;SGC32601;TAX1BP1_2449;WI-11921 CALCOCO3;T6BP;TXBP151 OTTHUMP00000122540;OTTHUMP00000122541;OTTHUMP00000202276;TRAF6-binding protein;tax1-binding protein 1 APPROVED protein-coding ENSG00000106052 HGNC:11575 05618 605326 REVIEWED 1318972 TAX1BP3 Tax1 (human T-cell leukemia virus type I) binding protein 3 ENCODES a protein that exhibits protein C-terminus binding; INVOLVED IN activation of Cdc42 GTPase activity; negative regulation of protein localization to cell surface; Rho protein signal transduction; FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine; 4-phenylbutyric acid 17 17 17 p13 3579928 3585715 - 3566187 3571973 - 3662893 3668679 - 1580863;6480464 10673275;10940294;11163757;12477932;12874278;14679154;14702039;15489334;15492812;16169070;16712791;16855024;17207965;18690705;18835279;19056867;19609363;19635485;20211142;21139582;21787750;21988832;22564736;22876914;22939629;23028987;23395680;23563176;24250222;8619474;8889548;9482110 30851 O14907 ABBA01054742;AC027796;AC132942;AF028823;AF168787;AF234997;AF277318;AK001327;AK315408;AMYH02032807;BC023980;BM973411;CB129195;CH471108;KF459567;NM_001204698;NM_014604;U90913 AAB84248;AAF43104;AAG44368;AAH23980;AAK69111;ADQ32196;BAG37800;EAW90491;EAW90492;EAW90493;NP_001191627;NP_055419;O14907 Hs.12956;Hs.731607 1760259;1767337;1847322;2118456;2143969 A008L05;D15S1258;RH78618;SHGC-132568;SHGC-36073 TIP-1 OTTHUMP00000115871;Tax interaction protein 1;glutaminase-interacting protein 3;tax-interacting protein 1;tax1-binding protein 3 protein-coding ENSG00000213977 HGNC:30684 18160 VALIDATED 1322498 TBATA thymus, brain and testes associated INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); spermatogenesis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); C60 fullerene (ortholog) 10 10 10 q22.1 65812948 65827109 - 72530995 72545157 - 70771229 70785401 - 6480464;8554872 12477932;14702039;15164054;16344560;16385451;18208870;19918778;20937703 219793 Q5T4G3;Q96M53 ABBA01019635;AK057382;AK303242;AK303344;AK303491;AK310699;AK310732;AL358817;AMYH02023296;BC060774;BC137543;BC137544;BC139728;BC144692;BC144694;BC144695;CH471083;DB032601;DB147708;NM_152710;XM_005269615;XM_005269616;XM_006717696;XM_006717697;XM_006717698;XM_006717699;XM_006717700;XM_006717701;XR_246078;XR_428700;XR_428701 AAI37544;AAI37545;AAI39729;AAI44693;AAI44695;BAB71459;BAH13923;BAH13946;BAH13974;EAW54411;EAW54412;EAW54413;NP_689923;Q96M53;XP_005269672;XP_005269673;XP_006717759;XP_006717760;XP_006717761;XP_006717762;XP_006717763;XP_006717764 Hs.386698 1681644 RH92869 C10orf27;FLJ32820 OTTHUMP00000019760;spatial;stromal protein associated with thymii and lymph node homolog;thymus, brain and testes-associated protein APPROVED protein-coding ENSG00000166220 HGNC:23511 08500 612640 VALIDATED 1351979 TAZ tafazzin This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008] X X X q28 153800935 153811119 + 153639877 153650065 + 154411541 154421726 + 1578363;1580863;6480464;6907045;7240710;8554872;8699517 11896212 10407787;10484795;11076863;11118295;11238270;12032589;12477932;12930833;15098233;15304507;15489336;15499385;15793838;16020776;16169070;16344560;16381901;16857210;16873891;17043667;18029348;18799610;19261493;19619503;19700766;20301486;20474083;20858893;22078877;22692215;23031367;23200781;23345479;23359024;23372686;23409742;23432031;23523468;23566416;23673366;23762387;23780915;23897276;24324261;24342716;24515112;24648515;24747426;25299040;5455540;7616547;8042670;8248200;8281148;8630491;8889548;9332651;9382096;9382097 6901 A6XNE1;C9J699;H7C2I9;Q16635;Q96F92 ABBA01045286;ABBA01045287;AC244090;AC245140;AK130900;AK291848;AY231461;AY231462;AY231463;AY231464;AY258036;AY258037;AY258038;AY258039;BC005062;BC011515;BI822925;BX401320;BX936347;CA488175;CH471172;CN478633;DB192394;DQ173574;DQ173592;DQ173593;DQ173594;DQ173595;DQ173596;DQ173597;DQ173598;DQ173599;DQ173600;DQ173601;DQ173602;DQ173603;DQ173604;DQ173605;DQ173606;DQ173607;DQ173608;DQ173609;DQ173610;DQ173611;DQ173612;DQ173613;DQ173614;DQ173615;DQ173616;DQ173617;DQ173618;DQ173619;DQ173620;DQ173621;DQ173622;DQ173623;DQ173624;DQ173625;DQ173626;DQ173627;DQ173628;DQ173629;DQ173630;DQ173631;DQ173632;DQ173633;DQ173634;DQ173635;DQ173636;DQ173637;DQ173638;DQ173639;DQ173640;DQ173641;DQ173642;DQ884408;NG_009634;NM_000116;NM_181311;NM_181312;NM_181313;NR_024048;X74607;X87198;X92762;X92763;XM_006724836;XM_006724837;XM_006724838;XM_006724839;XM_006724840;XM_006724841;XM_006724842 AAH11515;AAO84335;AAO84336;AAO84337;AAO84338;AAO84339;AAO84340;AAO84341;AAO84342;ABB72780;ABC25731;ABC25736;ABC25741;ABC25746;ABC25751;ABC25756;ABC25760;ABC25765;ABC25770;ABC25775;ABC25780;ABC25785;ABC25790;ABC25795;ABC25800;ABC25805;ABC25810;ABC25815;ABC25820;ABC25825;ABC25830;ABC25835;ABC25840;ABC25845;ABC25850;ABC25855;ABC25860;ABC25865;ABC25870;ABC25875;ABC25880;ABC25885;ABC25890;ABC25895;ABC25900;ABC25905;ABC25910;ABC25915;ABC25920;ABC25925;ABC25930;ABC25935;ABC25940;ABC25945;ABC25950;ABC25955;ABC25960;ABC25965;ABC25970;ABC25975;ABC25980;ABI63375;BAF84537;CAA63418;CAA63419;CAL37875;CAL38083;EAW72717;EAW72718;EAW72719;EAW72720;EAW72721;EAW72722;EAW72723;EAW72724;EAW72725;EAW72726;EAW72727;EAW72728;EAW72729;EAW72730;NP_000107;NP_851828;NP_851829;NP_851830;Q16635;XP_006724899;XP_006724900;XP_006724901;XP_006724902;XP_006724903;XP_006724904;XP_006724905 Hs.409911 1647559;1703070;1744617;1748067;1748071;1800854;1805268;1806180;1808240;1811224;1812434;1813728;1832566;1838744;2036902;2036904;2036906;2036908;2036910;2036912;2036914;2036916;2036918;2036920;2036922;2036924;2036926;2036928;2036930;2036932;2036934;2036936;2036938;2036940;2036942;2036944;2036946;2036948;2036950;2036952;2036954;2036956;2036958;2036960;2036962;2036964;2036966;2036968;2036970;2036972;2036974;2036976;2036978;2036980;2036982;2036984;2036986;2036988;2036990;2036992;2036994;2036996;2102520;2102522;2102524;2102526;2102528;2102530;2102532;2106697;2159883;5019917 DXS7010E;DXS7068;ECD01292;ECD03579;ECD04044;ECD05101;ECD06610;ECD07224;ECD07887;ECD17423;ECD20550;G54832;G65811;G65814;GDB:548776;REN89462;REN89463;REN89464;REN89465;REN89466;REN89467;REN89468;REN89469;REN89470;REN89471;REN89472;REN89473;REN89474;REN89475;REN89476;REN89477;REN89478;REN89479;REN89480;REN89481;REN89482;REN89483;REN89484;REN89485;REN89486;REN89487;REN89488;REN89489;REN89490;REN89491;REN89492;REN89493;REN89494;REN89495;REN89496;REN89497;REN89498;REN89499;REN89500;REN89501;REN89502;REN89503;REN89504;REN89505;REN89506;REN89507;REN89508;REN89509;SGC32232;TAZ__5218;stSG604031;stSG604032;stSG604033;stSG604034;stSG604035;stSG604036;stSG604037 BTHS;CMD3A;EFE;EFE2;FLJ27390;G4.5;LVNCX;Taz1;XAP-2 OTTHUMP00000031946;OTTHUMP00000031947;OTTHUMP00000031948;OTTHUMP00000031949;OTTHUMP00000064897;OTTHUMP00000179045;OTTHUMP00000198778;OTTHUMP00000207081 APPROVED protein-coding ENSG00000102125 HGNC:11577 02316 300394;302060 REVIEWED 1349688 TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008] 4 4 4 p14 38332894 38580988 + 37889606 38140796 + 37891084 38139175 + 6480464;8554872 10470851;10965142;12168954;12477932;14702039;15231748;15324660;15489334;15592455;16303743;16344560;16893906;17274760;17646400;17979178;18258599;18325908;19077034;19115052;19608861;19913121;20379614;20628086;20837646;21078596;21139048;21454505;21505148;22354992;22699663;22851577;22990118;23153538;23266558;23364847;23667688;23850713;24239544;24255178;24816145 23216 B5MCJ2;B9A6J6;C9JIE2;H0Y8P0;H0YA01;H7C0Z7;H7C380;Q6PJJ8;Q86TI0;Q8NC59 AB029031;AB449881;ABBA01074313;ABBA01074314;ABBA01074315;ABBA01074316;ABBA01074317;ABBA01074318;AC021106;AC098680;AC108933;AK027355;AK057182;AK074954;AK295746;AK303574;AMYH02009031;AMYH02009032;AMYH02009033;AW364769;BC014529;BC028196;BC029950;BC032337;BC050321;BC053648;BC126979;BQ672157;CQ783774;CR996632;DB036208;NM_001253912;NM_001253913;NM_001253914;NM_001253915;NM_015173;XM_005262646;XM_005262647;XM_005262648;XM_005262649;XM_005262651;XM_006713999;XM_006714000;XM_006714001 AAH14529;AAH50321;AAH53648;AAI26980;BAA83060;BAB55057;BAC11312;BAG51876;BAG64594;BAH12175;BAH16624;CAF86855;NP_001240841;NP_001240842;NP_001240843;NP_001240844;NP_055988;Q86TI0;XP_005262703;XP_005262704;XP_005262705;XP_005262706;XP_005262708;XP_006714062;XP_006714063;XP_006714064 Hs.176503 1298182;1648953;1652381;1652781;1687087;1705106;1714901;1718035;1723237;1725193;1735384;1761777;1761779;1767813;1771166;1772763;1774352;1778826;1854417;2109711;2109923;2120488;2122774;2134821;2150439;2178171;2178173;2182055;5093166;5093324;7186709 A009I01;A009L27;D4S1581;D4S2507E;D4S2540E;D4S2861;D4S486;G32559;G32652;G41984;PTTG2_3222;RH120445;RH122305;RH122634;RH124070;RH16463;RH35896;RH47722;RH92557;SHGC-145740;SHGC-145741;SHGC-24087;SHGC-33904;SHGC-34270;SHGC-53709;SHGC-59210;SHGC-67659;SHGC-79973;TBC1D1_9321;WI-22198 KIAA1108;TBC;TBC1 OTTHUMP00000196987;OTTHUMP00000196994;OTTHUMP00000218150;TBC1 domain family member 1 APPROVED protein-coding ENSG00000065882 HGNC:11578 18161 609850 VALIDATED 1605322 TBC1D10A TBC1 domain family, member 10A ENCODES a protein that exhibits PDZ domain binding; INVOLVED IN activation of cysteine-type endopeptidase activity; positive regulation of proteolysis; retrograde transport, endosome to Golgi; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular vesicular exosome; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; potassium chromate 22 22 22 q12.2 14487683 14522588 - 30687979 30722955 - 30291990 30326966 - 6480464;8554872 10591208;11285285;12477932;14702039;15461802;15790807;15998911;16344560;16923811;17145964;17562788;17646400;18029348;18387192;18450757;18976975;19056867;19077034;20360009;20404108;21044950;21139048;21890473;21906983;21963094;22219378;22354992;22505724;23000965;23248241;9847074 83874 A7E244;B5MD46;B7ZVY9;F8W9Y7;F8WCD1;F8WDN6;Q9BXI6 AB449894;ABBA01055293;AC004997;AF331038;AK074656;AK093231;AK127939;AK131086;AK309455;AMYH02038214;BC022201;BC136815;BC142940;BC150187;BC150214;BC171775;CH471095;CQ783540;CT841514;DA944522;NM_001204240;NM_031937 AAC23434;AAI36816;AAI42941;AAI43052;AAI43053;AAI50188;AAI50215;AAI71775;AAK35048;BAC11117;BAC85136;BAG52675;BAG54600;BAH16637;CAF86715;CAJ86444;EAW59871;EAW59872;EAW59873;EAW59874;EAW59875;EAW59876;EAW59877;NP_001191169;NP_114143;Q9BXI6 Hs.655273 1339153;1652230;5109362 A002C11;D17S1239;D22S531 EPI64;TBC1D10;dJ130H16.1;dJ130H16.2 EBP50-PDX interactor of 64 kDa;EBP50-PDZ interactor of 64 kD;H_DJ130H16.1a;H_DJ130H16.1b;OTTHUMP00000198729;OTTHUMP00000198730;OTTHUMP00000198731;OTTHUMP00000198732;OTTHUMP00000198733;OTTHUMP00000198735;OTTHUMP00000198736;OTTHUMP00000198738;OTTHUMP00000198739;TBC1 domain family member 10A;WUGSC:H_DJ130H16.1a;WUGSC:H_DJ130H16.1b;rab27A-GAP-alpha protein-coding ENSG00000099992 HGNC:23609 18162 610020 VALIDATED 1607066 TBC1D10B TBC1 domain family, member 10B Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010] 16 16 16 p11.2 29917190 29930290 + 30368422 30381522 - 30357101 30370201 - 6480464 12477932;14702039;15302935;16368877;17562788;17646400;19077034;20404108;21890473;22354992;23000965;23248241;23383273;24250222;24816145;8619474;9110174 26000 H3BSE1;Q4KMP7 AB449895;ABBA01042020;ABBA01042021;AC106782;AC243825;AF370370;AI672923;AK002101;AK023192;AL117408;AY007150;BC028737;BC038994;BC050523;BC063112;BC072453;BC093814;BC093816;BC098419;BY795947;CH471192;NM_015527 AAH50523;AAH63112;AAH72453;AAH93814;AAH93816;AAH98419;AAQ15206;ABZ92318;BAA92086;BAB14454;BAH16638;CAB55908;EAW52256;EAW52257;EAW52258;NP_056342;Q4KMP7 Hs.632182 1778355;2172587 SHGC-60983;SHGC-61105 DKFZp434P1750;EPI64B;FP2461 OTTHUMP00000163229;Rab27A-GAPbeta;TBC1 domain family member 10B;rab27A-GAP-beta APPROVED protein-coding ENSG00000169221 HGNC:24510 10892 613620 VALIDATED 1606878 TBC1D10C TBC1 domain family, member 10C The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 11 11 11 q13.2 64504521 64510669 + 67171384 67177561 + 67403797 67410090 + 6480464 12477932;17230191;17562788;17646400;19903851;19913121;19946888;20404108;20628086;21832049;23109291 374403 E9PSB7;Q8IV04 ABBA01024034;AK122585;AMYH02024994;AP003419;BC022202;BC035630;BC036873;BC047319;BC062999;BU615963;CH471076;CR979868;HI574212;NM_001256508;NM_198517;NR_046266;XM_006718538;XM_006718539;XM_006718540;XM_006718541;XM_006718542;XM_006718543;XM_006718544;XM_006718545 AAH36873;AAH62999;BAC56926;CBX47595;EAW74611;EAW74612;EAW74613;EAW74614;EAW74615;NP_001243437;NP_940919;Q8IV04;XP_006718601;XP_006718602;XP_006718603;XP_006718604;XP_006718605;XP_006718606;XP_006718607;XP_006718608 Hs.534648 EPI64C;FLJ00332;MGC46488 OTTHUMP00000235294;OTTHUMP00000235295;OTTHUMP00000236402;carabin APPROVED protein-coding ENSG00000175463 HGNC:24702 13330 610831 VALIDATED 1343312 TBC1D12 TBC1 domain family, member 12 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; formaldehyde 10 10 10 q23.33 89902294 90036175 + 96161956 96296089 + 94402199 94536332 + 1580863;6480464 12477932;14702039;15164054;16344560;19077034;9628581 23232 O60347 AB011180;AB449898;ABBA01021850;ABBA01021851;ABBA01021852;ABBA01021853;ABBA01021854;ABBA01021855;ABBA01021856;AJ404330;AK090865;AL049956;AL138759;AL355341;AMYH02023571;AMYH02023572;AMYH02023573;BC064323;CH471066;DA808973;NM_015188;XM_006717732;XM_006717733;XR_246080;XR_428702 BAA25534;BAH16641;CAB43225;EAW50040;NP_056003;O60347;XP_006717795;XP_006717796 Hs.500598 1717801;1725527;1727121;1849585;1849587;1856783;2110773;2174367;2186643;5109281 A002V30;A006A33;D1S1425;G20656;G62964;HSC2FE052;RH119162;RH121811;STS-N40192;TBC1D12__5219 FLJ10339;FLJ12820;KIAA0608 OTTHUMP00000020130;TBC1 domain family member 12 protein-coding ENSG00000108239 HGNC:29082 VALIDATED 1318412 TBC1D13 TBC1 domain family, member 13 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH nickel sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 9 9 9 q34.11 102200284 102223500 + 131549510 131572711 + 128787207 128810432 + 737633;6480464;8554872 12477932 14702039;17646400;19077034;21139048;22762500;22939629;24816145 54662 B3KNG3;B4DHM6;Q9NVG8 AB209565;AB449899;ABBA01043902;ABBA01043903;AK001605;AK027457;AK123828;AK289777;AK295183;AK307556;AL441992;AMYH02021727;AMYH02021728;BC014898;BC132817;BC136509;BC150311;BG716911;CH471090;DC325060;NM_001286772;NM_018201;XM_005252060;XM_006717147 AAI32818;AAI36510;AAI40081;AAI43011;AAI50312;ADR83162;BAA91784;BAD92802;BAF82466;BAG51325;BAG53966;BAG58188;BAH16642;EAW87832;EAW87833;EAW87834;EAW87835;EAW87836;NP_001273701;NP_060671;Q9NVG8;XP_005252117;XP_006717210 Hs.3376 1729817;1855551;2144160;2191609 A006Z27;D9S61;MARC_27502-27503:1034792889:3;RH35816 FLJ10743;RP11-545E17.5 OTTHUMP00000022297;OTTHUMP00000022298;TBC1 domain family member 13 protein-coding ENSG00000107021 HGNC:25571 18163 VALIDATED 1320638 TBC1D14 TBC1 domain family, member 14 ENCODES a protein that exhibits protein kinase binding; INVOLVED IN negative regulation of autophagy; recycling endosome to Golgi transport; regulation of autophagic vacuole assembly; FOUND IN autophagic vacuole; recycling endosome; INTERACTS WITH 2-methylcholine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 4 4 4 p16.1 6813220 6939146 + 6911171 7034845 + 6909444 7033118 + 737633;1580863;6480464 12477932 10718198;14702039;15489334;16344560;17562788;17646400;18186464;19077034;20379614;21900206;22613832;23382691 57533 B9A071;C9J541;C9JP26;F5GXK4;H7BZD7;Q9P2M4 AA724344;AB037743;AB449900;ABBA01012731;ABBA01012732;ABBA01012733;ABBA01012734;ABBA01012735;ABBA01012736;AC092463;AC097382;AC106045;AK056962;AK295068;AL833868;AMYH02008675;AMYH02008676;AMYH02008677;AMYH02008678;BC024966;BC041167;BQ230652;CH471131;DA317176;DA492919;DA754761;DC399948;NM_001113361;NM_001113363;NM_001286805;NM_020773;XM_005247986;XM_006713895;XM_006713896;XR_241653 AAH41167;ADZ15637;BAA92560;BAG58115;BAH16643;CAD38726;EAW82375;EAW82376;EAW82377;NP_001106832;NP_001106834;NP_001273734;NP_065824;Q9P2M4;XP_005248043;XP_006713958;XP_006713959 Hs.518611 1341731;1646285;1647784;1655415;1657229;1661163;1676224;1685954;1690452;1767415;1767417;1853917;2116152;2126873;2135731;2144984;2146596;2162991;2167584;2173705;7185606 A008M37;Cda0og07;D4S2715;D4S394;D4S514;D7S2827;G33506;G35316;RH48438;RH91338;SHGC-24105;SHGC-24383;SHGC-25112;SHGC-51773;SHGC-59483;SHGC-59564;SHGC-59811;SHGC-67343;SHGC-8654;STS-D51046 FLJ32400;KIAA1322 OTTHUMP00000115576;OTTHUMP00000201962;OTTHUMP00000201965;TBC1 domain family member 14 protein-coding ENSG00000132405 HGNC:29246 11623 614855 VALIDATED 1317393 TBC1D15 TBC1 domain family, member 15 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 12 12 12 q21.1 71896776 71983914 + 72233487 72320629 + 71839707 71926849 + 737633;1580863;6480464 12477932 14702039;15489334;15592455;16055087;16196087;16344560;16923123;16964243;17081983;17643375;17646400;19077034;20363736;20562859;20811636;21139048;21145461;21890473;21906983;21963094;21987572;22190034;22505724;22797925;22863883;23000965;23077178;23503661;24816145;8125298 64786 A8K8E1;C9JA93;F8VV61;F8WAX5;F8WCB5;F8WDJ1;F8WF35;Q8TC07 AB449901;ABBA01026503;ABBA01026504;AC089984;AC090109;AI590346;AK022147;AK090510;AK225221;AK225747;AK292306;AK297626;AK307922;AL157464;AL833639;AMYH02026742;AMYH02026743;BC028352;CH471054;DA438409;NM_001146213;NM_001146214;NM_022771;NR_027449;XM_006719563;XM_006719564;XM_006719565;XM_006719566;XM_006719567 AAH28352;ADZ16077;BAB13971;BAF84995;BAG60001;BAH16644;CAB75666;EAW97273;EAW97274;EAW97275;EAW97276;NP_001139685;NP_001139686;NP_073608;Q8TC07;XP_006719626;XP_006719627;XP_006719628;XP_006719629;XP_006719630 Hs.284630 1648423;1669373;1771337;1778384;2134539;2138628;2162185;5014051;5015619;5019803;5021872;5022200;5037552 A009W15;D11S3114;D8S2278;D8S2279;G32910;L18426;RH66026;RH69814;SHGC-53110;SHGC-56430;STS-Z41726;WI-18145;sY3084 DKFZp686M1379;DKFZp761D0223;FLJ12085;FLJ33191;RAB7-GAP GAP for RAB7;GTPase-activating protein RAB7;OTTHUMP00000213052;OTTHUMP00000213053;OTTHUMP00000241770;TBC1 domain family member 15;Tre-2-budding uninhibited by benzimidazole-cell division cycle 16 domain, domain family member 15;Tre2/Bub2/Cdc16 domain family member 15 APPROVED protein-coding ENSG00000121749 HGNC:25694 15470 612662 REVIEWED 1345819 TBC1D16 TBC1 domain family, member 16 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cobalt dichloride 17 17 17 q25.3 74539942 74635700 - 77906142 78009657 - 79932343 80035858 - 737633;1580863;6480464;8554872 12477932 14702039;15146197;15489334;17646400;19077034;21129771;22354992;23019362 125058 I3L0U9;I3L0V9;I3L235;I3L4T6;I3L4U4;Q8TBP0 AB449902;ABBA01013820;ABBA01013821;ABBA01013822;AC100791;AC116025;AK000755;AK091923;AK097283;AL157485;AL512709;AMYH02034094;AMYH02034095;AMYH02034096;BC001525;BC028290;BC036947;BC062601;BC080571;BX092567;CH471099;CN361974;CR936670;NM_001271844;NM_001271845;NM_001271846;NM_019020;XM_005257049;XM_005257050;XM_005257052;XM_006721694;XM_006721695 AAH01525;AAH28290;AAH36947;BAA91361;BAH16645;EAW89574;EAW89575;EAW89576;EAW89577;NP_001258773;NP_001258774;NP_001258775;NP_061893;Q8TBP0;XP_005257106;XP_005257107;XP_005257109;XP_006721757;XP_006721758 Hs.369819 1681155;1700282;1764539;1773757;1853537;2110879;2123206;2145737 D17S851E;RH103759;RH120869;RH12358;RH46396;RH94345;SHGC-148131;SHGC-56719 FLJ20748;MGC25062 TBC1 domain family member 16 protein-coding ENSG00000167291 HGNC:28356 10261 VALIDATED 1320164 TBC1D17 TBC1 domain family, member 17 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN retrograde transport, endosome to Golgi; FOUND IN cytosol; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; cobalt dichloride 19 19 19 q13.33 47250191 47261510 + 50380682 50392007 + 49877425 49888750 + 737633;1580863;6480464 12477932 12031486;14702039;15489334;16169070;16189514;16923123;17562788;17646400;19077034;21139048;21145461;21890473;22354992;22854040;22863883;24639526 79735 M0QXA2;M0QYC9;M0R2L2;Q9HA65 AB449903;ABBA01032908;AC118341;AC118342;AF293463;AI805386;AI927008;AK022230;AK090606;AK092924;AK300007;AK309412;AMYH02036332;AY129013;BC003516;CH471177;CQ871302;KC877742;NM_001168222;NM_024682;XM_006723385 AAH03516;AAK73364;AAM98756;BAB13991;BAG61824;BAH16646;CAH56832;EAW52572;NP_001161694;NP_078958;Q9HA65;XP_006723448 Hs.631587 1683239;2110885;2168315;2191519;5015861;5022576;5037552;5491541 D10S16;D19S264E;D1S1361;D8S2279;MARC_17481-17482:1016467169:1;MARC_24330-24331:1030112298:1;RH36488;RH92938 FLJ12168 TBC1 domain family member 17 protein-coding ENSG00000104946 HGNC:25699 15471 VALIDATED 1343247 TBC1D19 TBC1 domain family, member 19 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 4 4 4 p15.2 27036071 27206887 + 26585546 26758232 + 26576682 26756610 + 1580863;6480464;8554872 12477932;14702039;15489334;15592455;17646400;19077034;21382349;21906983;8125298 55296 D6RA60;D6RA74;D6RD52;D6RDZ1;Q8N5T2 AB449905;ABBA01032727;ABBA01032728;AC093807;AC107390;AF075043;AI034462;AK001944;AK225395;AK289631;AK310795;AMYH02008928;AMYH02008929;BC031642;CH471069;DC299740;NM_001292054;NM_018317;XM_005248172;XM_006713967 AAH31642;BAA91992;BAF82320;BAH16648;EAW92851;EAW92852;NP_001278983;NP_060787;Q8N5T2;XP_005248229;XP_006714030 Hs.479403 1339948;1672109;1777007;2110179;2175180 D4S1091;SHGC-59484;STS-D25246;WI-15026;stb131K9.p1 FLJ11082 OTTHUMP00000123446;OTTHUMP00000218002;TBC1 domain family member 19 protein-coding ENSG00000109680 HGNC:25624 07730 VALIDATED 1315719 TBC1D2 TBC1 domain family, member 2 ENCODES a protein that exhibits cadherin binding; Rab GTPase activator activity; INVOLVED IN positive regulation of Rab GTPase activity; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cell junction; cytoplasmic vesicle; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid 9 9 9 q22.33 71475593 71532312 - 100961280 101018003 - 98198998 98255721 - 1580863;6480464;8554872 11785977;12477932;15302935;16344560;17081983;17646400;18029348;19077034;20583170;20944657;22354992;22863883;22939629;23285084;23562278 55357 Q9BYX2 AB209721;AB449882;ABBA01042917;ABBA01042918;AF318370;AK026105;AK124772;AK131290;AK298575;AL137073;AL353935;AL360081;AL591502;AMYH02021319;AY026527;BC028918;BC071978;BX091503;CH471105;DB167423;NM_001267571;NM_001267572;NM_018421;NR_051978 AAH28918;AAH71978;AAK07684;AAL55877;ABM82231;ABM85416;BAB15361;BAD92958;BAG54093;BAG54761;BAG60767;BAH16625;CAB89247;EAW58882;EAW58883;EAW58884;EAW58885;EAW58886;EAW58887;EAW58888;NP_001254500;NP_001254501;NP_060891;Q9BYX2 Hs.371016 1763631;2182313 D9S2007;SHGC-147322 DKFZp761D1823;FLJ10702;FLJ16244;FLJ42782;PARIS-1;PARIS1;TBC1D2A OTTHUMP00000021772;OTTHUMP00000021773;OTTHUMP00000021774;TBC1 domain family member 2A;TBC1 domain family, member 2A;armus;prostate antigen recognized and identified by SEREX 1 protein-coding ENSG00000095383 HGNC:18026 609871 VALIDATED 1353455 TBC1D21 TBC1 domain family, member 21 ENCODES a protein that exhibits actin binding (inferred); Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH silicon dioxide; rosiglitazone (ortholog); troglitazone (ortholog) 15 15 15 q24.1 51045787 51061365 + 74165922 74181555 + 73873581 73889214 + 1580863;6480464;8554872 12477932;15489334;16923123;17646400;19056867;19077034;21128978;21832049 161514 H3BTA9;Q8IYX1 AB449907;ABBA01038705;AC018943;AC108137;AMYH02030780;BC033516;CH471082;HC007320;HC044845;HY018107;NM_001286434;NM_153356;XM_006720409;XM_006720410;XM_006720411;XM_006720412;XR_243080 AAH33516;BAH16650;CBH19465;CBH30752;EAW77936;EAW77937;NP_001273363;NP_699187;Q8IYX1;XP_006720472;XP_006720473;XP_006720474;XP_006720475 Hs.124512 1707234;5111067;5112167 AFM224yf8;RH102066;SHGC-79211 MGC34741 MgcRabGAP;OTTHUMP00000174928;TBC1 domain family member 21;male germ cell-specific expressed, containing a RabGAP domain protein-coding ENSG00000167139 HGNC:28536 15473 VALIDATED 1346411 TBC1D20 TBC1 domain family, member 20 This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 20 20 20 p13 510958 538015 - 416124 443187 - 435480 462543 - 6480464;8699517;7240710;8554872 11780052;12477932;14702039;15489334;16344560;16751776;17646400;17684057;17686842;17901050;19077034;19322201;21832049;21906983;22260459;22491470;22854043;23236136;24239381;24250222 128637 Q96BZ9;Q9Y2V8 AB449906;ABBA01053749;ABBA01053750;AF116909;AK055573;AK092063;AK095110;AK127062;AK291648;AL049761;AL121747;AMYH02036550;AMYH02036551;AMYH02036552;BC014648;BC014983;BC047616;BM984598;BX647370;CH471133;DA230581;DA238706;DA311494;NG_034082;NM_144628;NR_111901;XM_005260661;XM_006723540 AAD29636;AAH14983;BAC86808;BAF84337;BAH16649;EAX10670;EAX10671;EAX10672;NP_653229;Q96BZ9;XP_005260718;XP_006723603 Hs.590876 1649149;1655659;1768916;1787838;1846739;1847623;1847625;2147804;2147806;2159291;2180866;5022578;5022651;5037552 A002A04;D11S2921;D1S1423;D8S2279;G09312;G19838;RH16324;RH66094;SHGC-132609;SHGC-36460;SHGC-36522;SHGC-56964;STS-Z41706;WI-21992 C20orf140;FLJ45119;WARBM4 OTTHUMP00000029927;OTTHUMP00000159603;TBC1 domain family member 20 protein-coding ENSG00000125875 HGNC:16133 15472 611663;615663 REVIEWED 9068565 TBC1D22A-AS1 TBC1D22A antisense RNA 1 22 22 22 q13.31 31226113 31226805 - 47311203 47311916 - 46915307 46916020 - 12477932;14702039;15461802 642757 Q96M85 ABBA01010466;AK057318;AMYH02038541;BC041833;CH471138;CR456602;NR_122047;U51561;XR_109737;XR_112262;XR_172390 CAG30488;EAW73446;Q96M85 Hs.632786;Hs.742347 ncrna ENSG00000280080 HGNC:51221 VALIDATED 1602007 TBC1D22A TBC1 domain family, member 22A ENCODES a protein that exhibits protein homodimerization activity; INVOLVED IN positive regulation of Rab GTPase activity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cisplatin 22 22 22 q13.3 31074220 31486114 + 47158514 47571342 + 46762617 47175699 + 6480464;8554872 10591208;12477932;12529303;14702039;15461802;15489334;16344560;17646400;18029348;18186464;19077034;20379614;20834067;23526746;23572552;24255178;24816145 25771 B0QYI1;F8WBF7;F8WDP1;Q8WUA7 AB449908;ABBA01010464;ABBA01010465;ABBA01010466;ABBA01010467;ABBA01010468;ABBA01010469;AK000851;AK055591;AK125705;AK127653;AK301445;AK308039;AK315779;AL023576;AL023733;AL078642;AL096779;AL118516;AMYH02038540;AMYH02038541;AMYH02038542;AMYH02038543;BC001292;BC002743;BC020976;BC029897;CH471138;CR456412;DA990679;DB339610;FP325331;HY033225;KF457495;KF457501;KF495831;KF511470;NM_001284303;NM_001284304;NM_001284305;NM_014346;NR_104292;U51559;U51561;XM_005261496;XM_006724223;XR_244364;Z79999;Z80896;Z81000;Z82187;Z97351 AAD12228;AAH01292;AAH02743;AAH20976;AAH29897;BAC86253;BAG38127;BAG51541;BAG54543;BAG62971;BAH16651;CAB46628;CAG30298;CAK54403;CAK54702;EAW73443;EAW73444;EAW73445;NP_001271232;NP_001271233;NP_001271234;NP_055161;Q8WUA7;XP_005261553;XP_006724286 Hs.435044 1643992;1658703;1667962;1679235;1711594;1711638;1711652;1711654;1711656;1711658;1711660;1711662;1711664;1711666;1711668;1711670;1711672;1711694;1711696;1711698;1711700;1711702;1711704;1711706;1711708;1711710;1711712;1711714;1711716;1711718;1711720;1711722;1711724;1711726;1711728;1711730;1711732;1711802;1732183;1733234;1747581;1748393;1751257;1752021;1753563;1855527;1857171;1857197;2111970;2111972;2111982;2145646;2159724;2169740;5093280 A009K40;AL008663;AL008673;AL023601;D22S1592;D22S1593;D22S1599;D22S22;D22S295;D22S558;D22S611;G32626;G49298;G49320;G49328;G49329;G49330;G49331;G49332;G49333;G49334;G49335;G49336;G49337;G49338;G49349;G49350;G49351;G49352;G49353;G49354;G49355;G49356;G49357;G49358;G49359;G49360;G49361;G49362;G49363;G49364;G49365;G49366;G49368;G49369;G49426;G65365;G65731;RH66495;RH70665;RH91390;SGC31109;SHGC-105075;SHGC-105969;SHGC-107488 C22orf4;HSC79E021 OTTHUMP00000197069;OTTHUMP00000197263;OTTHUMP00000197264;OTTHUMP00000197267;TBC1 domain family member 22A;putative GTPase activator protein-coding ENSG00000054611 HGNC:1309 15474 VALIDATED 1353872 TBC1D22B TBC1 domain family, member 22B ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); INTERACTS WITH paracetamol; pirinixic acid 6 6 6 p21.2 38780572 38855711 + 37225528 37300746 + 37257752 37332970 + 6480464 12477932;14574404;14702039;15489334;15790807;15998911;17646400;19077034;19322201;20379614;23572552;24255178 55633 Q9NU19 AB449909;ABBA01038280;AK000344;AK096340;AK292893;AL096712;AL353579;AL589667;AMYH02013566;AMYH02013567;AMYH02013568;AY313781;AY927466;AY927467;BC000291;BC000743;BC001927;BC002720;BC047658;BC063523;BC109026;BC109027;BX648317;CH471081;CR749710;KF458146;NM_017772;XR_241906;XR_427833 AAH00291;AAH00743;AAH01927;AAH02720;AAH63523;AAI09027;AAI09028;AAQ72548;BAA91099;BAF85582;BAH16652;CAH18482;EAX03939;EAX03940;EAX03941;EAX03942;NP_060242;Q9NU19 Hs.731702 1662744;1665093;1666267;1693626;1725261;1770832;1770834;2117124;2135447;2147395;2155374;5093380 A004I44;A005L04;A009N29;G20299;G32684;RH119351;RH12792;RH35717;RH36457;RH37438;RH45235;SHGC-58542 C6orf197;DKFZp762J0110;FLJ20337;MGC125626;MGC125627;RP4-744I24.2;dJ744I24.2 OTTHUMP00000016322;TBC1 domain family member 22B protein-coding ENSG00000065491 HGNC:21602 15475 VALIDATED 1601860 TBC1D23 TBC1 domain family, member 23 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of interleukin-6 production (inferred); positive regulation of Rab GTPase activity (inferred); regulation of inflammatory response (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH atrazine; methyl methanesulfonate; trichostatin A 3 3 3 q12.2 98370265 98434664 + 99979661 100044096 + 100260817 100325252 + 6480464;8554872 12477932;14702039;16344560;19077034;20972266;21139048;21988832;22312129;22589738;23000965;24144296;25027693 55773 C9IZ32;C9JAM5;E9PGE5;Q9NUY8 AB449910;ABBA01061790;ABBA01061791;AC078783;AC093003;AK001750;AK001908;AK092926;AL713684;AMYH02007302;AMYH02007303;AU154297;AY740521;BC010221;BC020955;BX648032;CH471052;DA801258;DB458401;NM_001199198;NM_018309 AAH10221;AAH20955;AAW66944;ADZ15433;BAA91881;BAA91973;BAG52630;BAH16653;CAD28488;EAW79826;EAW79827;NP_001186127;NP_060779;Q9NUY8 Hs.477003 1717183;2121922;2122856;2145402;2175655;2176538;5017787 D3S3387;RH121514;RH47353;SHGC-33725;SHGC-77153;STS-D59625;TBC1D23 DKFZp667G062;FLJ11046;NS4ATP1 HCV non-structural protein 4A-transactivated protein 1;HCV nonstructural protein 4A-transactivated protein 1;OTTHUMP00000213990;OTTHUMP00000213991;OTTHUMP00000213992;TBC1 domain family member 23 protein-coding ENSG00000036054 HGNC:25622 07727 VALIDATED 1606524 TBC1D24 TBC1 domain family, member 24 This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] 16 16 16 p13.3 2760729 2768193 + 2525146 2555734 + 2475132 2505733 + 6480464;7240710;8699517;8554872 10574461;12477932;17646400;18029348;19077034;20727515;20797691;21250943;21890473;21906983;22211675;23343562;23517570;23526554;24250222;24291220;24387994;24729539 57465 H3BNU1;H3BTP5;H3BV07;Q9ULP9 AB032997;AB449911;ABBA01030252;AC093525;AC106820;AI685478;AK074509;AMYH02031252;AMYH02031253;BC112389;BC127014;BC127015;BX648283;CH471112;NG_028170;NM_001199107;NM_020705;XM_005255449;XM_006720907 AAI12390;AAI27015;AAI27016;BAA86485;BAH16654;EAW85503;NP_001186036;NP_065756;Q9ULP9;XP_005255506;XP_006720970 Hs.353087 1649881;1729614;1740165;1768279;1772891;2172544;2182296;5014051;5015861;5015961;5016478;5020948;5022200;5022463;5022578;5022588;5022651;5024272;7185938;7186396 A009J05;D10S16;D11S2921;D15S1477;D16S284;D16S3014;D16S3309;D1S1423;D2S1254;D3S1673;D5S1597E;D8S2278;G35510;GDB:434012;L18426;RH66407;SHGC-32888;SHGC-60646 DFNA65;DFNB86;EIEE16;FIME;KIAA1171;MGC102885;TLDC6 DOORS;TBC/LysM-associated domain containing 6;TBC1 domain family member 24 APPROVED protein-coding ENSG00000162065 HGNC:29203 220500;605021;613577;614617;615338 REVIEWED 1351229 TBC1D25 TBC1 domain family, member 25 This gene encodes a protein with a TBC domain and may function as a Rab GTPase activating protein. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jul 2008] X X X p11.23 53244734 53267656 - 48398075 48420997 + 48539687 48562609 + 6480464;8554872 12437969;12477932;12618308;16344560;16484223;16923123;17558447;19077034;21152090;21383079;22354992;24250222;8314581 4943 B4DE92;C9JMI8;Q3MII6 AB449912;ABBA01046015;ABBA01046016;ABBA01046017;ABBA01046018;ABBA01046019;AC115618;AF196969;AJ508600;AK293521;AK293875;AK294776;AK297924;AK298884;AK299561;AK316199;AMYH02039304;BC026050;BC036942;BC041614;BC052609;BC064334;BC082255;BC101817;BC101819;BC125088;BC125089;BC143395;BG328213;BI088539;CA447032;CH471224;DA087200;L08240;NM_002536 AAA59593;AAH26050;AAI01818;AAI01820;AAI25089;BAG57003;BAG57264;BAG57904;BAG60241;BAG60997;BAG61504;BAH14570;BAH16655;EAW50769;EAW50770;EAW50771;EAW50772;NP_002527;Q3MII6 Hs.694353 2112852;2122812;2128719;2134217;2134329;2144714;2152727;2173386;2219224 DXS6675;DXS7927E;DXS9789;DXS9870E;OATL1__6099;RH47499;STS-AA022838;STS-L08240;WI-19793 MG81;MGC126866;MGC126868;MGC149731;MGC149732;OATL1 5SN3 snoRNA;OTTHUMP00000025803;OTTHUMP00000070507;TBC1 domain family member 25;ornithine aminotransferase-like 1 APPROVED protein-coding ENSG00000068354 HGNC:8092 08948 311240 VALIDATED 1604696 TBC1D26 TBC1 domain family, member 26 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); choline (ortholog); dibutyl phthalate (ortholog) 17 17 17 p11.2 19438044 19450548 - 15635591 15648098 + 15732277 15744784 + 6480464 11347906;12477932;16344560;19077034 353149 J3QLL4;J3QQK9;J3QR66;J3QRI5;Q86UD7 AB449913;ABBA01035678;AC005324;AI631546;AK315847;AMYH02033057;BC028414;BC047400;CH878279;DB067071;EG328144;NM_178571 AAH28414;AAH47400;BAF98738;BAH16656;EAW50388;EAW50389;EAW50390;NP_848666;Q86UD7 Hs.567880 1731148 D17S259 FLJ55788;MGC51025 OTTHUMP00000065211;OTTHUMP00000232928;TBC1 domain family member 26 protein-coding ENSG00000255104 HGNC:28745 14670 VALIDATED 2292086 TBC1D27 TBC1 domain family, member 27 INTERACTS WITH (-)-demecolcine; ethyl methanesulfonate; formaldehyde 17 17 17 p11.2 17700808 17780599 - 16826948 16832856 - 16926508 16933694 - 6480464 12477932;14702039;19773279;20379614 96597 Q9H7M0 ABBA01009769;AC022596;AK024458;AL353996;AMYH02033084;BC128223;CH471196;XR_424798;XR_424799;XR_429853;XR_433349 BAB15748;EAW55731 1729450;1730459;1783500;1783512;2160536;5015861;5022588;7185938 D10S16;D17S445;D17S844;D5S1597E;SHGC-145661;SHGC-149523;SHGC-64270 protein-coding HGNC:28104 MODEL 1607053 TBC1D29 TBC1 domain family, member 29 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); INTERACTS WITH cadmium atom 17 17 17 q11.2 25748106 25752033 + 28884124 28890511 + 30556977 30563493 + 6480464 12477932;12618308 26083 Q4V771;Q9UFV1 ABBA01015000;AC011840;AL117394;AMYH02033275;BC096718;BC098126;BC098273;CH471159;NM_015594;XM_006721805 AAH96718;AAH98126;CAB55896;EAW51237;EAW51238;NP_056409;Q9UFV1;XP_006721868 Hs.241421 DKFZp434O047 putative TBC1 domain family member 29 protein-coding ENSG00000266733 HGNC:24509 13162 VALIDATED 2289741 TBC1D28 TBC1 domain family, member 28 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred) 17 17 17 p11.2 19433636 19450578 - 18538738 18547740 - 18635425 18644688 - 12477932;14702039;16344560 254272 I3L197;I3L433;I3L4T3;I3L502;Q2M2D7 ABBA01003920;AC026271;AC105100;AK097563;AK292544;AL137747;AMYH02033116;BC112012;BC112016;DB065322;NM_001039397;XM_006721498 AAI12013;AAI12017;BAF85233;NP_001034486;Q2M2D7;XP_006721561 Hs.434123;Hs.567880 1731148 D17S259 FLJ40244;MGC138217;MGC138221 OTTHUMP00000065077;TBC1 domain family member 28 protein-coding ENSG00000189375 HGNC:26858 VALIDATED 1604393 TBC1D2B TBC1 domain family, member 2B ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; benzene 15 15 15 q24.3-q25.1 55223349 55306006 - 78287327 78369994 - 77994985 78077652 - 6480464;8554872 10470851;12477932;16751776;17646400;20379614;20562859;21988832;22354992;22505724;22990118;24816145 23102 B2RTQ2;C9JW56;H0YL97;Q9UPU7 AB028978;ABBA01060578;ABBA01060579;AC090260;AC104758;AI432924;AK000173;AK074871;AL080229;AL109773;AL137303;AMYH02030859;AW135485;BC015718;BC033712;BC140766;BC144482;BC152465;BE387538;CH471136;NM_015079;NM_144572;XM_005254242 AAH33712;AAI40767;AAI44483;AAI52466;BAA83007;BAA90990;CAH10708;EAW99188;EAW99189;EAW99190;NP_055894;NP_653173;Q9UPU7;XP_005254299 Hs.567426 1337988;1848286;2183941;5019617 A005A05;D15S973;G32209;WI-11944 FLJ20166;KIAA1055 OTTHUMP00000202618;OTTHUMP00000202619;TBC1 domain family member 2B protein-coding ENSG00000167202 HGNC:29183 08310 VALIDATED 2291766 TBC1D30 TBC1 domain family, member 30 ENCODES a protein that exhibits Rab GTPase activator activity; Rab GTPase binding; INVOLVED IN negative regulation of cilium assembly; positive regulation of GTP catabolic process; positive regulation of Rab GTPase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN ciliary basal body; primary cilium; INTERACTS WITH copper atom; copper(0); elemental selenium 12 12 12 q14.3 64839404 64937879 + 65218352 65274802 + 64780780 64881022 + 6480464;8554872 10231032;12618308;14702039;17646400;19077034;20125193;8889548 23329 F5GY74;F5H0E8;F5H7L7;F8VZ81;Q9Y2I9 AB023201;AB449914;ABBA01026594;AC025262;AC078815;AK055404;AK299508;AL050074;AMYH02026668;AMYH02026669;BM678817;DC377016;NM_015279;XM_006719300;XM_006719301 BAA76828;BAG51513;BAG61461;BAH16657;NP_056094;Q9Y2I9;XP_006719363;XP_006719364 Hs.192492 1656637;1662528;1746357;1746473;1746867;1849138;2117315;2145649;2147334;2160730;2165114;2169189;2170509;2170993 A004Z30;A007A06;D12S1189E;D12S1211E;D12S1414;D12S1539;D12S1544;D12S2056;G64397;G64500;G64736;RH44361;RH44734;WI-15930 KIAA0984 OTTHUMP00000239545;OTTHUMP00000239546;TBC1 domain family member 30 protein-coding ENSG00000111490 HGNC:29164 615077 VALIDATED 1603593 TBC1D31 TBC1 domain family, member 31 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); FOUND IN centrosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; aflatoxin B1 8 8 8 q24.13 120273958 120353417 + 124084920 124164393 + 123072680 123152153 + 6480464 12477932;14702039;15489334;20379614;21139048;21890473;21906983;22505724 93594 E5RFG6;E5RG45;E5RHC6;E5RI27;E5RI94;E7ERK7;E7EWW7;F5GYF1;H0YCP2;H0YCY3;Q96DN5 ABBA01037865;ABBA01037866;AC100873;AK025686;AK056434;AK092041;AK094612;AMYH02018701;AMYH02018702;AMYH02018703;BC026969;BC027237;BC101724;BC105800;BC111954;BC143523;BC143525;CA429516;CH471060;NM_001145088;NM_145647;U43374;XM_005251102;XM_005251103;XM_005251104;XM_005251105 AAH26969;AAH27237;AAI01725;AAI05801;AAI11955;AAI43526;BAB71182;BAC04384;EAW92018;EAW92019;EAW92020;EAW92021;NP_001138560;NP_663622;Q96DN5;XP_005251159;XP_005251160;XP_005251161;XP_005251162 Hs.492716 1656172;1661560;1671562;1706870;1772651;2113334;5022450 D10S275;D13S1728;G17232;G36153;RH47838;RH68014;SHGC-80920 Gm85;MGC104222;MGC126773;MGC138159;MGC21654;WDR67 OTTHUMP00000228369;OTTHUMP00000228371;OTTHUMP00000228372;OTTHUMP00000228373;TBC1 domain family member 31;WD repeat domain 67;WD repeat-containing protein 67 APPROVED protein-coding ENSG00000156787 HGNC:30888 11319 VALIDATED 1345789 TBC1D32 TBC1 domain family, member 32 This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 6 6 6 q22.31 122145028 122400056 - 121400627 121655646 - 121079494 121334500 - 6480464;8554872 14574404;14702039;16344560;19913121;20125193;20159594;20379614;20628086;21906983;24250222;24285566 221322 A2A304;H0YBP0;Q96NH3 ABBA01025999;ABBA01026000;ABBA01026001;AK055461;AK091554;AK125385;AK126259;AK131446;AL035593;AL139098;AL365508;AL589910;AL590225;AMYH02014392;AMYH02014393;AMYH02014394;AMYH02014395;AMYH02014396;BX112581;CH471051;DA109825;DA214223;DB084115;DB216282;NG_034203;NM_152730;NR_104452;XM_005266861 BAB70925;BAC03694;BAC86152;BAD18591;EAW48180;EAW48181;EAW48182;NP_689943;Q96NH3;XP_005266918 Hs.121396 1681648;1699480;1719089;1721821;1751785;1753581;2119478;2170119;5116974 G59935;RH103333;RH123262;RH37572;RH66567;RH93248;SHGC-105796;SHGC-107465;ha3102 C6orf170;C6orf171;FLJ30899;FLJ34235;bA301B7.2;bA57L9.1;dJ310J6.1 BROMI;OTTHUMP00000017108;OTTHUMP00000017110;OTTHUMP00000227908;TBC1 domain family member 32;bA301B7.2 (novel protein);broad-minded homolog;dJ310J6.1 (novel protein);protein broad-minded APPROVED protein-coding ENSG00000146350 HGNC:21485 12867 615867 REVIEWED 1604121 TBC1D3 TBC1 domain family, member 3 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH amiodarone; cadmium atom; cyclosporin A 17 17 17 q12 54548817 54559974 - 36337528 36349276 - 38181476 38192600 - 6480464 11230166;12359748;12604796;12612085;16625196;16863688;17646400;18199687;18319245;19077034;19718026;22348058;23029530;23535730;23578663;24714105;8406013;8471161 729873 Q8IZP1 AB449884;AC183087;AC233700;AC233968;AC244154;AK302064;AK303259;AX775941;AX775943;NM_001123391 BAG63454;BAG64341;BAH16627;CAE11670;CAE11671;NP_001116863;Q8IZP1 Hs.454716;Hs.735975 5109553;5125042;5127094 D17S1360E;G19723;RH10527 FLJ56187;FLJ57364;FLJ58835;FLJ60943;FLJ77836;FLJ93850;PRC17;TBC1D3A;TBC1D3F OTTHUMP00000226652;OTTHUMP00000226655;OTTHUMP00000226656;Rab GTPase-activating protein PRC17;TBC1 domain family member 3;TBC1 domain family, member 3F;prostate cancer gene 17;protein TRE17-alpha protein-coding ENSG00000274611 HGNC:19031 607741 VALIDATED 1605183 TBC1D3B TBC1 domain family, member 3B This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq, Apr 2009] 17 17 17 q12 54549001 54559967 - 34493061 34504035 - 36165681 36176675 - 6480464 12477932;14702039;16625196;16863688 414059 A6NDS4 ABBA01035357;ABBA01035358;ABBA01035359;AC003976;AC131056;AC139367;AC243829;AF540953;AK292257;NM_001001417;XM_005257980;XM_006725323 A6NDS4;AAI66651;AAN33117;BAF84946;NP_001001417;XP_005258037;XP_006725386 Hs.105891;Hs.454716 5109553;5125042;5127094 D17S1360E;G19723;RH10527 FLJ78399;PRC17;TBC1D3I OTTHUMP00000163610;OTTHUMP00000163611;Rab GTPase-activating protein PRC17 duplicate;TBC1 domain family member 3B;TBC1 domain family member 3B/I;TBC1 domain family, member 3I;prostate cancer gene 17 duplicate APPROVED protein-coding ENSG00000274808 HGNC:27011 11264 610144 REVIEWED 1605746 TBC1D3D TBC1 domain family, member 3D ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); FOUND IN plasma membrane (inferred) q12 11230166;12359748;12604796;16625196;16863688;8406013;8471161 727735 AC021317;AC183087;NM_001123390 NP_001116862;P0C7X1 Hs.105891 PRC17;TBC1D3;TBC1D3A;TBC1D3H protein-coding HGNC:28944 1605182 TBC1D3C TBC1 domain family, member 3C This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking. [provided by RefSeq, Apr 2014] 17 17 17 q12 54549000 54559962 - 34581085 34592039 - 38057693 38068644 - 6480464 12359748;12477932;12604796;16863688;8889549 414060 A8K8E3;Q6DCB4;Q6IPX1 AA045947;AC131056;AC233699;AC233968;AK313329;NM_001001418;XM_005257981;XM_006721904;XM_006721905;XM_006721906;XM_006721907;XM_006721908;XM_006725572 BAG36134;NP_001001418;Q6IPX1;XP_005258038;XP_006721967;XP_006721968;XP_006721969;XP_006721970;XP_006721971;XP_006725635 Hs.735975;Hs.743999 5109553;5125042;5127094 D17S1360E;G19723;RH10527 FLJ78248;MGC44903;TBC1D3D OTTHUMP00000163612;OTTHUMP00000163613;Rab GTPase-activating protein PRC17;TBC1 domain family member 3C;TBC1 domain family member 3C-like protein ENSP00000341742;TBC1 domain family member 3C/3D;telomeric TBC1 domain family member 3-like APPROVED protein-coding ENSG00000278299 HGNC:24889 17559 610806 REVIEWED 1604120 TBC1D3E TBC1 domain family, member 3E ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH cyclosporin A q12 6480464 16863688 729877 P0C7X1 AC027821;AC126327;NM_001123392 A6NER0;NP_001116864 Hs.105891 protein-coding HGNC:27071 610811 1345800 TBC1D3F TBC1 domain family, member 3F ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; cadmium atom 17 17 17 q12 54549000 54559915 - 36283868 36294915 + 36428612 36439523 - 1580863;6480464 11076863;11230166;12359748;12477932;12612085;14702039;15489336;16381901;16625196;16863688;19077034;20936779;23535730;7566098;8125298;8406013;8471161;8889548 84218 A6NER0;B4DXP2 ABBA01011245;AC021317;AC126327;AC183087;AC233698;AC233700;AK225985;AK292344;BC075809;NM_032258 A6NER0;AAH75809;AAI46681;BAF85033;CAL37674;CAL38609;NP_115634 Hs.617010 5109553;5125042;5127094 D17S1360E;G19723;RH10527 FLJ56187;FLJ58835;TBC1D3;TBC1D3G OTTHUMP00000216311;OTTHUMP00000217154;TBC1 domain family member 3;TBC1 domain family member 3F;TBC1 domain family, member 3;TBC1 domain family, member 3G;TRE17 alpha protein;prostate cancer gene 17 protein;protein TRE17-alpha protein-coding ENSG00000275954 HGNC:18257 09667 610809 VALIDATED 1604122 TBC1D3H TBC1 domain family, member 3H q12 16625196;16863688 729837 AC126327;NM_001159332;XM_001134128;XM_001134131 A6NH17;NP_001152804;XP_001134128;XP_001134131 Hs.569742 5109553;5125042;5127094 D17S1360E;G19723;RH10527 protein-coding HGNC:30708 610811 1602782 TBC1D3I TBC1 domain family, member 3I ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); FOUND IN plasma membrane (inferred) 643947 AC139367;XM_001713609 A6NDS4;XP_001713661 protein-coding HGNC:32709 9587586 TBC1D3J TBC1 domain family, member 3J 17 36450023 36456035 - 100510707 ABBA01012423;ABBA01012424;ABBA01012425;AC233698;AC233700;XM_006710031;XM_006722234;XM_006725383;XM_006726730 XP_006710094;XP_006722297;XP_006725446;XP_006726793 protein-coding HGNC:51247 MODEL 1605745 TBC1D3G TBC1 domain family, member 3G ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); FOUND IN plasma membrane (inferred) 17 q12 34797174 34808184 - 6480464 12477932;16863688;8125298 654341 Q6DHY5 AC126327;AK225985;AK292344;BC075809;DC397874;NM_001040282;XM_005257599;XM_005257600;XM_005257601;XM_005257602;XM_005257603 AAH75809;BAF85033;NP_001035372;Q6DHY5;XP_005257656;XP_005257657;XP_005257658;XP_005257659;XP_005257660 Hs.454716;Hs.617010 5109553;5125042;5127094 D17S1360E;G19723;RH10527 OTTHUMP00000163563;OTTHUMP00000163564;TBC1 domain family member 3G protein-coding ENSG00000161583 HGNC:29860 VALIDATED 9587620 TBC1D3K TBC1 domain family, member 3K 17 q12 37923805 37935371 + 16863688 101060351 AC243569;DC397859;NM_001291464;XM_003960688;XM_003960690;XM_006722235;XM_006722236;XM_006722237;XM_006722238;XM_006722239;XM_006722240;XM_006722241;XM_006726731;XM_006726732;XM_006726733;XM_006726734;XM_006726735 NP_001278393;XP_003960737;XP_003960739;XP_006722298;XP_006722299;XP_006722300;XP_006722301;XP_006722302;XP_006722303;XP_006722304;XP_006726794;XP_006726795;XP_006726796;XP_006726797;XP_006726798 Hs.454716 TBC1 domain family member-like protein-coding HGNC:51245 VALIDATED 9587677 TBC1D3L TBC1 domain family, member 3L 17 q12 37978155 37988705 - 14702039;16863688 101060376 B3KTC5;B9A6J9 AC243569;AK095385;AK122833;AX775949;AX775951;NM_001291459;XM_003960693;XM_005276604;XM_005276605;XM_005276606;XM_005276607;XM_006722242;XM_006722243;XM_006722244;XM_006722245;XM_006722246;XM_006722247;XM_006726736 BAG53037;BAG53751;CAE11674;CAE11675;NP_001278388;XP_003960742;XP_005276661;XP_005276662;XP_005276663;XP_005276664;XP_006722305;XP_006722306;XP_006722307;XP_006722308;XP_006722309;XP_006722310;XP_006726799 Hs.454716 TBC1 domain family member 3F-like protein-coding ENSG00000274512 HGNC:51246 VALIDATED 1606373 TBC1D3P1 TBC1 domain family, member 3 pseudogene 1 17 17 q23.1 54549000 54558143 - 58085483 58094627 - 400609 AC005702;NG_005461 1693440 G42383 pseudo HGNC:27445 1601893 TBC1D3P1-DHX40P1 TBC1D3P1-DHX40P1 readthrough transcribed pseudogene 17 17 17 q23 54516896 54559852 - 58053385 58096336 - 59976024 60018975 - 11181995;12477932 653645 ABBA01003182;ABBA01003183;AC005702;AC245758;AC245929;BX280208;CH471109;HG509298;NR_002924;XR_424860 EAW94372;EAW94373;EAW94375;EAW94376 Hs.600085 DHX40P;DHX40P1;TBC1D3P1 APPROVED pseudo HGNC:42362 VALIDATED 1604135 TBC1D3P2 TBC1 domain family, member 3 pseudogene 2 INTERACTS WITH cadmium atom 17 17 17 q23.2 54549003 54559929 - 60342066 60353016 - 62264705 62275655 - 6480464 12477932;21832049 440452 AC053481;AK301746;AMYH02033761;BC058890;CH471109;EG327356;NR_027486 BAG63208;EAW94371;EAW94374 Hs.448884 5109553;5125042;5127094 D17S1360E;G19723;RH10527 pseudo ENSG00000188755 HGNC:27783 PROVISIONAL 6482154 TBC1D3P3 TBC1 domain family, member 3 pseudogene 3 17 17 p11.2 20446793 20454277 - 20543480 20550964 - 653017 AC015818;AMYH02033186;NG_032193 USP6P1 pseudo HGNC:32408 INFERRED 8170465 TBC1D3P4 TBC1 domain family, member 3 pseudogene 4 17 17 p11.2 18298213 18304578 + 18394899 18401264 + 100631253 ABBA01009729;AL353997;AMYH02033115;NG_029286 USP6P2 pseudo HGNC:32409 INFERRED 5552976 TBC1D3P5 TBC1 domain family, member 3 pseudogene 5 17 17 17 q11.1 22606877 22620495 + 25745031 25758649 + 27418005 27431623 + 12477932 440419 Q2M1I1 ABBA01015070;AC090615;AMYH02033209;BC037244;BC112354;NR_033892 AAI12355 Hs.385755 MGC133239 pseudo ENSG00000266433 HGNC:43567 VALIDATED 1345136 TBC1D4 TBC1 domain family, member 4 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN cellular response to insulin stimulus; vesicle-mediated transport; PARTICIPATES IN altered insulin responsive facilitative sugar transporter mediated glucose transport pathway; insulin responsive facilitative sugar transporter mediated glucose transport pathway; phosphatidylinositol 3-kinase-Akt signaling pathway; ASSOCIATED WITH Acanthosis Nigricans; Congenital Hyperinsulinism; FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH (-)-demecolcine; 5-azacytidine; aldehydo-D-glucose 13 13 13 q22.2 56756694 56954119 - 75858809 76056782 - 75284664 75482646 - 1580863;2302393;2302395;2302397;2306494;6480464;6484113;7248544;8554872 17629673;17717074;18171431;18570632;19470471 11829485;11994271;12421765;12477932;12601173;15057823;15302935;15304337;15324660;15919790;15971998;16055720;16083285;16964243;17077344;17081983;17353931;17369524;17513702;17617058;17977950;17979178;18276765;18771725;18845784;19077034;19252894;19923418;20379614;20445134;20574165;20937822;20938636;20943949;21139048;21145461;21454505;21454690;21606541;22028408;22863883;23153538;23443559;23444366;23562823;23801578;24255178;24816145;25043022;9628581 9882 O60343;Q5JU47 AB011175;AB449885;ABBA01021641;ABBA01021642;ABBA01021643;AK300468;AK304091;AK307493;AL139230;AL162571;AMYH02028278;AMYH02028279;AY211910;BC151239;CA448893;CH471093;CR749622;FM207106;FM207107;NM_001286658;NM_001286659;NM_014832;XM_005266603;XM_005266605;XM_006719902;XM_006719903 AAI46301;AAI51240;BAA25529;BAG62187;BAG64997;BAH16628;CAH18416;CAR62509;CAR62510;EAW80536;EAW80537;EAW80538;NP_001273587;NP_001273588;NP_055647;O60343;XP_005266660;XP_005266662;XP_006719965;XP_006719966 Hs.210891 1339312;1687892;1780280;1780304;1780306;1780322;1780326;2111706;2111708;2143233;5017761;7184096;7184098 D13S1618;D13S1619;D13S162;G67122;G67123;G67124;G67150;G67152;RH39895;RH68592;TBC1D4 AS160;DKFZp779C0666 Acrg embryonic lethality minimal region ortholog;OTTHUMP00000018505;TBC (Tre-2, BUB2, CDC16) domain-containing protein;TBC1 domain family member 4;akt substrate of 160 kDa protein-coding ENSG00000136111 HGNC:19165 18164 612465 VALIDATED 6481162 TBC1D4-AS1 TBC1D4 antisense RNA 1 q22.2 100874209 AI476347;AL139230 APPROVED ncrna HGNC:40874 1321047 TBC1D5 TBC1 domain family, member 5 ENCODES a protein that exhibits Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN retromer complex; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; paracetamol 3 3 3 p24.3 17137647 17722084 - 17198654 17784240 - 17157162 17742637 - 1580863;6480464;8554872 12477932;14702039;15144186;15489334;16189514;16344560;16713569;17646400;19077034;19531583;20379614;20923837;21890473;22354992;24250222;24255178;24816145;8889548;9039502 9779 B9A6K1;C9J397;C9J3F6;C9JDR8;C9JED7;C9JIU4;C9JMP7;C9JNM0;C9JW04;C9JWX0;C9K0P2;F2Z3C3;F2Z3I5;Q92609 AB449886;ABBA01025120;ABBA01025121;ABBA01025122;ABBA01025123;ABBA01025124;AC090644;AC090960;AC104451;AC140076;AC144531;AK097990;AK309374;AK310539;AMYH02006347;AMYH02006348;AMYH02006349;AMYH02006350;AMYH02006351;AMYH02006352;AMYH02006353;BC013145;BM976960;CH471055;D86965;DA111826;NM_001134381;NM_014744;XM_005265611;XM_005265612;XM_005265613;XM_005265614;XM_005265615;XM_005265616;XM_006713429;XM_006713430 AAH13145;ADZ15960;BAA13201;BAH16629;EAW64284;EAW64285;EAW64286;EAW64287;EAW64288;NP_001127853;NP_055559;Q92609;XP_005265668;XP_005265669;XP_005265670;XP_005265671;XP_005265672;XP_005265673;XP_006713492;XP_006713493 Hs.475629 1678751;1680034;1680787;1720747;1720779;1746025;1749799;1752565;1765767;1767290;1770740;2133928;2134533;2134535;2134754;2158221;2168059;2178820;5015619;5015961;5037552 A005T32;A006M37;D11S3114;D15S1477;D8S2279;G20485;G59347;G59363;RH11669;RH125624;RH16587;RH25422;RH28491;RH36248;RH45539;RH80454;RH93319;SHGC-106476;SHGC-111540;SHGC-149202;WI-20516 KIAA0210 OTTHUMP00000208065;OTTHUMP00000208066;OTTHUMP00000208068;OTTHUMP00000208069;TBC1 domain family member 5 protein-coding ENSG00000131374 HGNC:19166 10262 615740 VALIDATED 1316981 TBC1D7 TBC1 domain family, member 7 This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 6 6 6 p24.1 14538134 14561738 - 13305183 13328787 - 13304951 13328583 - 737633;1580863;6480464;8699517;7240710;8554872 12477932 11042152;14702039;15342556;15489334;16344560;17207965;17646400;17658474;18029348;19077034;19953087;20095038;20098747;20562859;21832049;21890473;21906983;22354992;22795129;23687350;23793025;24250222;8125298 51256 B4DK47;Q5JPB9;Q5SZL3;Q5SZL4;Q5SZL5;Q5SZL6;Q5SZL8;Q5SZM1;Q5SZM2;Q9P0N9;U3KPS8;U3KPY5;U3KQ23;U3KQD8;U3KQQ0 AB449888;ABBA01022125;AF151073;AK057228;AK223445;AK296391;AL008729;AL589984;AL833474;AMYH02013130;AY542308;AY826820;BC007054;BC050465;BG504676;BI914228;BP319580;CF528834;CH471087;DA169008;DB079098;NG_033862;NM_001143964;NM_001143965;NM_001143966;NM_001258457;NM_016495;XM_005249163;XM_005249164;XM_005249166;XM_005249167;XM_006715105;XR_427832 AAF36159;AAH07054;AAH50465;AAT08177;AAX18640;ADQ33066;BAB71389;BAD97165;BAG59059;BAH16631;CAI46116;EAW55323;EAW55324;EAW55325;EAW55326;EAW55327;NP_001137436;NP_001137437;NP_001137438;NP_001245386;NP_057579;Q9P0N9;XP_005249220;XP_005249221;XP_005249223;XP_005249224;XP_006715168 Hs.484678 1649520;1675421;2141399;5022578 D1S1423;D6S2113;RH46703;RH92774 DKFZp686N2317;FLJ32666;MGCPH;PIG51;TBC7;dJ257A7.3 OTTHUMP00000016047;OTTHUMP00000016048;OTTHUMP00000043406;OTTHUMP00000043407;OTTHUMP00000043408;OTTHUMP00000043409;OTTHUMP00000043410;TBC1 domain family member 7;cell migration-inducing protein 23 APPROVED protein-coding ENSG00000145979 HGNC:21066 18165 248000;612655 REVIEWED 1347118 TBC1D8 TBC1 domain family, member 8 (with GRAM domain) ENCODES a protein that exhibits calcium ion binding (inferred); Rab GTPase activator activity (inferred); INVOLVED IN blood circulation (inferred); positive regulation of cell proliferation (inferred); positive regulation of Rab GTPase activity (inferred); FOUND IN membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; calcitriol 2 2 2 q11.2 95827603 95971825 - 101623690 101767858 - 101007228 101151392 - 1580863;6480464 10373574;10737800;12023963;14702039;15851553;16344560;17646400;17686842;19077034;20548944;21906983;22779921;24250222 11138 J3KQ40;O95759 AB017114;AB449889;ABBA01073916;ABBA01073917;ABBA01073918;ABBA01073919;ABBA01073920;AC013722;AC016738;AK000748;AK098124;AK292826;AK300533;AL134328;AMYH02004418;AMYH02004419;AMYH02004420;AMYH02004421;BE842460;BQ673509;CA429937;CD722231;CH471127;DB079019;DB201187;DC383710;DC415735;DR001338;NM_001102426;XM_005263862;XM_005263863;XM_005263864 AAI72297;AAY14824;BAA76517;BAF85515;BAH13300;BAH16632;EAX01823;EAX01824;EAX01825;NP_001095896;O95759;XP_005263919;XP_005263920;XP_005263921 Hs.442657 1654688;1662273;1682499;1690882;1694594;1703190;1706032;1734880;1744347;1752149;1778031;1848335;2106699;2135394;2137169;2145067;2150963;2170665;5016596;5020883;5127449;5491814 A005M35;D2S1646E;D2S2662;D2S2760;G16341;G43290;GDB:451770;GDB:631802;HSC1GA012;RH12325;RH70503;RH98384;RP_L31_1;SGC30319;SGC32211;SHGC-106096;SHGC-2424;SHGC-78655;TBC1D8;TBC1D8__5222;WI-18129;WIAF-2217 AD 3;AD3;HBLP1;TBC1D8A;VRP BUB2-like protein 1;OTTHUMP00000202974;OTTHUMP00000225214;TBC1 domain family member 8;TBC1 domain family, member 8A;vascular Rab-GAP/TBC-containing protein protein-coding ENSG00000204634 HGNC:17791 06752 VALIDATED 1606538 TBC1D8B TBC1 domain family, member 8B (with GRAM domain) This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] X X X q22.3 106517303 106590765 + 106045919 106119380 + 106802680 106876150 + 6480464;8554872 12477932;14702039;19077034;21906983;23143602;8125298;8889548 54885 D6RC82;D6RFZ2;H0Y552;J3KN75;Q0IIM8 AB449890;AB449891;ABBA01035823;ABBA01035824;ABBA01035825;ABBA01035826;ABBA01035827;ABBA01035828;ABBA01035829;ABBA01035830;ABBA01035831;ABBA01035832;AK000305;AK091248;AK123957;AK225310;AL391315;AL591849;AMYH02040209;BC017978;BC122564;BQ014086;BX648230;CA941751;CB243872;CH471120;NG_021284;NM_017752;NM_198881;U96192;XM_006724669;XM_006724670 AAI22565;BAA91071;BAC03620;BAC85735;BAH16633;BAH16634;EAX02734;EAX02735;EAX02736;NP_060222;NP_942582;Q0IIM8;XP_006724732;XP_006724733 Hs.351798 1719129;2157456;5015607;5015615;5019072;5022615;5096478;5115198;5118342 D11S2442;D11S2467;D11S3014;D11S3076;D11S3206;DXS2506;G44369;RH123282;STS-H63357 FLJ20298;RP11-321G1.1 OTTHUMP00000023789;OTTHUMP00000217630;OTTHUMP00000217633;TBC1 domain family member 8B APPROVED protein-coding ENSG00000133138 HGNC:24715 06529 REVIEWED 1604383 TBC1D9 TBC1 domain family, member 9 (with GRAM domain) ENCODES a protein that exhibits calcium ion binding (inferred); Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 4 4 4 q31.21 138871921 139007760 - 141541936 141677471 - 140620782 140756317 - 6480464;8554872 10048485;10737800;12477932;12970790;15146197;15302935;16355344;18228020;19077034;20379614;21890473;22296392;22354992;8619474;9110174 23158 Q6ZT07 AB020689;AB449892;ABBA01069981;ABBA01069982;ABBA01069983;ABBA01069984;AC096733;AC108019;AF131785;AI439646;AK127020;AMYH02010212;AMYH02010213;AMYH02010214;BC038804;BC114935;BC128046;BC146758;BQ308276;CH471056;CN332501;CN332502;NM_015130 AAI46759;BAA74905;BAC86789;BAH16635;EAX05092;EAX05093;EAX05094;NP_055945;Q6ZT07 Hs.480819;Hs.595450 1662918;1662920;1686692;1718193;1735424;1754935;1768187;2115323;2128385;2159111;2162365;2168319;2168321 A001Y05;D4S1246;D4S2601E;D4S2680;D4S3312;D4S3334;G19772;G41967;RH122866;RH92256;SHGC-141857;SHGC-50201;WI-20032 KIAA0882;MDR1 OTTHUMP00000220169;TBC1 domain family member 9;TBC1 domain family member 9A protein-coding ENSG00000109436 HGNC:21710 11115 VALIDATED 1604633 TBC1D9B TBC1 domain family, member 9B (with GRAM domain) ENCODES a protein that exhibits calcium ion binding (inferred); Rab GTPase activator activity (inferred); INVOLVED IN positive regulation of Rab GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; copper(2+) sulfate; disodium selenite 5 5 5 q35.3 174914219 174960020 - 179289071 179334879 - 179862071 179907856 - 6480464;8554872 12477932;14702039;16303743;17646400;19077034;21139048;21832049;22354992;22939629;23383273;24816145;8125298;9734811 23061 A1L3A9;B3KM54;E5RIN2;G3V133;H0YB08;H0YB58;Q66K14;Q9BW24 AB014576;AB449893;ABBA01010047;ABBA01010048;ABBA01010049;AC008393;AC010285;AK001196;AK001473;AK026096;AK074791;AK123874;AK223509;AK304757;AMYH02012896;AMYH02012897;AMYH02012898;BC000701;BC008919;BC031697;BC080659;BC110400;BC129994;BM459848;BU183640;BX641107;CH471165;KF458070;NM_015043;NM_198868 AAH00701;AAH08919;AAH80659;AAI29995;ADZ15757;BAA31651;BAD97229;BAG50866;BAG50919;BAG52002;BAG53977;BAG65512;BAH16636;CAE46050;EAW53777;EAW53778;EAW53779;EAW53780;EAW53781;EAW53782;NP_055858;NP_942568;Q66K14 Hs.155829 1664105;1690286;1740397;1740421;1740489;1740503;1780752;1855809;2154988 D5S2217E;D5S2232E;D5S2285E;D5S2295E;RH94087;SGC34653;WI-20921;WIAF-2213;bac51950T FLJ41880;KIAA0676;MGC157757 OTTHUMP00000161517;OTTHUMP00000161518;TBC1 domain family member 9B protein-coding ENSG00000197226 HGNC:29097 10015 VALIDATED 5489184 TBCAP1 tubulin folding cofactor A pseudogene 1 X X X p21 37186709 37187311 + 33059408 33060015 + 33041291 33041898 + 494540 ABBA01073228;AL451144;AMYH02039147;NG_004790;NG_012232 pseudo HGNC:42630 INFERRED 1323048 TBCA tubulin folding cofactor A The product of this gene is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. This gene encodes chaperonin cofactor A. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 5 5 5 q14.1 72881651 72966197 - 76986995 77072185 - 77691170 77776361 - 1298632;1580863;6480464 9653160 11042152;12054808;12477932;15489334;15963512;16130169;18029348;18781797;20195357;20201926;20379614;20950786;21044950;21139048;21890473;21906983;21963094;22053931;22505724;22939629;23000965;23740643;24250222;24583282;24654937;24816145;8567715;8706133 6902 E5RHG6;E5RIW3;E5RIX8;E5RJD8;E5RJM1;O75347;Q6FGD7 ABBA01061983;ABBA01061984;AC026717;AC035147;AF038952;AK300031;AK312207;AMYH02011621;AMYH02011622;BC018210;BC067837;BC105285;BT007354;CH471084;CR542170;CR542186;DB538817;DC312139;DW436723;HY015414;KF510913;NM_001297738;NM_001297740;NM_004607;XM_005248586 AAC39866;AAH18210;AAI05286;AAP36018;BAG35140;BAG61842;CAG46967;CAG46983;EAW95810;NP_001284667;NP_001284669;NP_004598;O75347;XP_005248643 Hs.291212;Hs.661401 1706066;1721063;1769003;1776090;2144491 G59514;RH16205;SHGC-34767;SHGC-80068;WI-17114 CFA OTTHUMP00000128368;OTTHUMP00000222303;OTTHUMP00000222304;OTTHUMP00000222362;OTTHUMP00000222437;TCP1-chaperonin cofactor A;chaperonin cofactor A;tubulin-folding cofactor A;tubulin-specific chaperone A APPROVED protein-coding ENSG00000171530 HGNC:11579 18166 610058 REVIEWED 5489183 TBCAP2 tubulin folding cofactor A pseudogene 2 1 1 1 p36 13501389 13501855 - 15018424 15018891 - 14691928 14692395 - 494541 ABBA01004723;AL031732;AMYH02000341;NG_004791;NG_029844 pseudo HGNC:42631 INFERRED 1320593 TBCB tubulin folding cofactor B INVOLVED IN 'de novo' posttranslational protein folding (inferred); cell differentiation (inferred); cellular protein metabolic process (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH cyclosporin A; elemental selenium; pirinixic acid 19 19 19 q13.11-q13.12 33320069 33331031 + 36605888 36616849 + 36114986 36125947 + 1580863;6480464 12477932;15057824;15489334;15592455;15831477;16303566;16713569;18029348;18048340;19038251;19165527;19168853;19322201;19913121;20628086;21139048;21890473;21906983;22053931;22777741;22863883;22939629;22940919;23000965;24250222;24816145;25027693;8978778;8978780;9265649 1155 K7EK42;K7EL99;K7EP07;K7EQH0;K7ER04;Q99426 ABBA01018779;AD001527;AF013488;AI126083;AI148860;AL555345;AMYH02036000;BC005969;BC052812;BQ923739;BT007424;CQ840911;CR541971;CR996176;D49738;FB353521;NM_001281;NM_001300971;XM_006722998 AAB51182;AAB67716;AAH05969;AAH52812;AAP36092;ABM83826;ABM87149;BAA08572;CAG46769;CAH05698;CAR82347;NP_001272;NP_001287900;Q99426;XP_006723061 Hs.31053 2185406 WI-12306 CG22;CKAP1;MGC14625 CKAPI;OTTHUMP00000045827;OTTHUMP00000081860;cytoskeleton associated protein 1;cytoskeleton-associated protein 1;cytoskeleton-associated protein CKAPI;tubulin-folding cofactor B;tubulin-specific chaperone B protein-coding ENSG00000105254 HGNC:1989 03196 601303 VALIDATED 5489182 TBCAP3 tubulin folding cofactor A pseudogene 3 4 4 q23 99830532 99831054 - 98909381 98909903 - 101290501 ABBA01063664;AC093836;AMYH02009795;NG_033171 pseudo ENSG00000249055 HGNC:42632 INFERRED 1315555 TBCC tubulin folding cofactor C Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 44264486 44266136 - 42712234 42713884 - 42744496 42746146 - 1580863;6480464 11847227;12417528;12477932;14574404;15489334;20384997;21832049;22028797;8567715;8706133 6903 Q15814 ABBA01050722;AK312681;AL353716;AMYH02013625;BC017479;BC020170;BE795945;BT007002;CH471081;NM_003192;U61234 AAB17539;AAH17479;AAH20170;AAP35648;ADZ16092;BAG35561;EAX04100;NP_003183;Q15814 Hs.75064 1670280;1858454;2139092;2139094 A001T48;G19644;RH69688;SGC31811 CFC OTTHUMP00000016406;tubulin-folding cofactor C;tubulin-specific chaperone C APPROVED protein-coding ENSG00000124659 HGNC:11580 04276 602971 REVIEWED 1605661 TBCCD1 TBCC domain containing 1 ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN maintenance of centrosome location; maintenance of Golgi location; regulation of cell migration; FOUND IN spindle pole centrosome; INTERACTS WITH benzo[a]pyrene diol epoxide I; formaldehyde; hydrogen peroxide 3 3 3 q27.3 184700233 184724709 - 186263856 186288332 - 186546067 186570543 - 6480464 12477932;14702039;16344560;19322201;19913121;20628086 55171 C9J4M0;C9JUE9;Q9NVR7 ABBA01058388;ABBA01058389;AC068631;AK001422;AK124362;AMYH02008346;BC025748;CA428099;CH471052;DB023715;DB033833;HY017180;NM_001134415;NM_001286749;NM_018138 AAH25748;ACT64550;ACT64551;BAA91682;BAG54031;EAW78191;EAW78192;EAW78193;NP_001127887;NP_001273678;NP_060608;Q9NVR7 Hs.518469 1727247;5014051;5015619;5022200;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;G62878;L18426 FLJ10560 OTTHUMP00000210167;OTTHUMP00000210168;TBCC domain-containing protein 1 protein-coding ENSG00000113838 HGNC:25546 07684 VALIDATED 1313614 TBCE tubulin folding cofactor E Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42.3 208773486 208855524 + 235530728 235612280 + 235367360 235448968 + 1599303;1580863;6480464;7240710;8554872;8699517 12389028 11847227;12389029;12446740;12477932;12665801;14702039;15489334;16344560;16710414;16712791;17008776;17184771;18029348;18262179;19168853;19297412;19491227;19557161;20103624;20201926;20204449;20379614;21139048;21890473;22863883;22940919;23973072;24816145;8567715;8706133;9265649;9634513;9806825;9891010 6905 Q15813 ABBA01033127;ABBA01033128;ABBA01033129;ABBA01033130;ABBA01033131;ABBA01033132;ABBA01033133;ABBA01033134;ABBA01033135;ABBA01033136;ABBA01033137;AK093397;AK292287;AK296185;AK298050;AL357556;AMYH02002943;AMYH02002944;AMYH02002945;BC008654;BF064027;BT007086;CB110473;CH471098;DA418943;DA981183;FO393422;NG_009230;NM_001079515;NM_001287801;NM_001287802;NM_003193;U61232 AAB17538;AAH08654;AAP35749;ADZ15423;BAF84976;BAH12277;BAH12714;EAW70021;EAW70022;EAW70023;EAW70024;EAW70025;NP_001072983;NP_001274730;NP_001274731;NP_003184;Q15813 Hs.744998 1648595;1664036;1724877;1764439;1768744;2163340 AL010041;RH119203;RH70688;SGC38288;SHGC-148032;SHGC-76555 HRD;KCS;KCS1;pac2 Kenny-Caffey syndrome;OTTHUMP00000037906;hypoparathyroidism, growth and mental retardation, and dysmorphism;tubulin-folding cofactor E;tubulin-specific chaperone E APPROVED protein-coding ENSG00000116957 HGNC:11582 05381 241410;244460;604934 REVIEWED 1317676 TBCD tubulin folding cofactor D Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 77304731 77496641 + 80709938 80901062 + 82752064 82943186 + 6480464;8554872 10231032;10722852;10831612;11110777;11847227;12107410;12477932;12912990;14702039;15231748;15489334;16169070;17704193;18171676;19724895;19851296;20198315;20360068;20740604;21044950;21139048;21832049;21890473;21906983;21963094;21987572;21988832;22505724;22863883;23000965;24250222;24654937;24816145;8567715;8619474;8706133;9110174;9265649 6904 I3L0V3;I3L120;I3L131;I3L143;I3L163;I3L1L0;I3L1S3;I3L3H4;I3L439;I3L4D2;I3L500;J3KR97;Q9BTW9 AA421669;AB023205;ABBA01019702;ABBA01019703;ABBA01019704;ABBA01019705;ABBA01019706;ABBA01019707;ABBA01019708;ABBA01019709;ABBA01019710;ABBA01019711;AC024361;AC068014;AC068584;AC087222;AC127518;AC130371;AF052173;AF193042;AJ006417;AK057975;AK091959;AK129619;AK293471;AL096745;AL133562;AMYH02034172;AMYH02034173;AMYH02034174;AMYH02034175;AMYH02034176;BC003094;BC006364;BC012824;BC024167;BC039654;BC150142;BG254219;BI464569;CA390153;CH471099;NG_011721;NM_005993;XM_005256396;XM_005256399;XM_005256400;XM_005256401;XM_005256402;XM_005256403;XM_005256404;XM_005256405;XM_006722290;XM_006722291;XM_006722292;XR_430033 AAG22470;AAH03094;AAH06364;AAH12824;AAH39654;ABM82811;ABW03451;BAA76832;BAC03777;BAC85197;BAG56964;CAA07022;CAB62532;CAB63716;EAW89821;EAW89822;EAW89823;NP_005984;Q9BTW9;XP_005256453;XP_005256456;XP_005256457;XP_005256458;XP_005256459;XP_005256460;XP_005256461;XP_005256462;XP_006722353;XP_006722354;XP_006722355 Hs.464391 1670364;1677891;1678599;1693608;1694660;1726467;1734430;1747641;1757495;1758563;1763877;1763879;2155547;2174188 D17S1402E;G43509;G62613;G65508;HSC0WH042;RH10983;RH11658;RH92242;RH98714;SHGC-144868;SHGC-147546;SHGC-147547;SHGC-148757;SHGC-58522 KIAA0988;SSD-1;tfcD beta-tubulin cofactor D;tubulin-folding cofactor D;tubulin-specific chaperone D APPROVED protein-coding ENSG00000141556 HGNC:11581 05227 604649 REVIEWED 1606678 TBCEL tubulin folding cofactor E-like ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH arsenite(3-); copper(2+) sulfate; formaldehyde 11 11 11 q23.3 118054255 118119808 + 120894802 120962787 + 121024093 121092078 + 6480464;8554872 12477932;14702039;15728251;18262179;20379614;21890473 219899 B2R8D2;B3KNB6;E9PJJ0;E9PNS0;E9PP54;G3V147;Q5QJ74 ABBA01031312;AI128257;AK024239;AK095817;AK295673;AK313324;AMYH02025682;AP000646;AP001929;AY398644;BC020501;BC120988;BC120989;BX091943;CH471065;DB481993;DN602255;NM_001130047;NM_152715;XM_005271439;XM_005271440;XM_005271441;XM_005271442;XM_005271445;XM_005271446;XM_006718784 AAI20989;AAI20990;AAR27875;BAG36129;BAG51278;BAG58531;EAW67513;EAW67514;EAW67515;NP_001123519;NP_689928;Q5QJ74;XP_005271496;XP_005271497;XP_005271498;XP_005271499;XP_005271502;XP_005271503;XP_006718847 Hs.504136;Hs.720282 1654866;5107935 D11S4648;SHGC-57160 E-like;El;FLJ14177;LRRC35;MGC10233 OTTHUMP00000231803;OTTHUMP00000231822;catastrophin;leucine rich repeat containing 35;leucine-rich repeat-containing protein 35;tubulin-specific chaperone cofactor E-like protein;tubulin-specific chaperone e-like protein-coding HGNC:28115 11302 610451 VALIDATED 1606987 TBCK TBC1 domain containing kinase This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 4 4 4 q24 104266483 104537097 - 106967233 107237861 - 106046076 106316704 - 6480464;8554872 12471243;12477932;14702039;15489334;15815621;16344560;19077034;20332099;21250943;21832049;22837378;22939629;23977024;24576458;9847074 93627 D6R950;D6RC61;D6RDG2;D6RDY5;H0Y8U7;H0Y959;H0YA45;Q5HYF5;Q8TEA7 AB449876;ABBA01063740;AC093680;AC107381;AC109361;AC114734;AC125469;AF161420;AI279137;AI808636;AK074305;AK098157;AK315571;AMYH02009853;AMYH02009854;AMYH02009855;AP001820;BC009208;BC020853;BC068496;BX647851;CH471057;DA100605;DB223368;DB228807;KF457800;NG_034057;NM_001163435;NM_001163436;NM_001163437;NM_001290768;NM_033115;XM_006714419;XR_427553 AAF28980;AAH09208;AAH20853;AAH68496;AAY40979;AAY41041;ABM84205;ABM87609;BAB85045;BAC05244;BAH16619;CAI46102;EAX06198;EAX06199;EAX06200;EAX06201;EAX06202;NP_001156907;NP_001156908;NP_001156909;NP_001277697;NP_149106;Q8TEA7;XP_006714482 Hs.151498;Hs.292986 1649072;1650692;1653039;1653047;1659287;1700696;1705352;1752183;1775754;1779094;2136041;2149743;2151639;2174877 RH103971;SHGC-106067;SHGC-18815;SHGC-18917;SHGC-24739;SHGC-50491;SHGC-50939;SHGC-57456;SHGC-59799;SHGC-59821;SHGC-67790;SHGC-67977;SHGC-83528;WI-11631 HSPC302;MGC16169;TBCKL OTTHUMP00000161871;OTTHUMP00000161872;OTTHUMP00000161873;OTTHUMP00000219943;TBC domain-containing protein kinase-like protein protein-coding ENSG00000145348 HGNC:28261 17514 REVIEWED 731934 TBKBP1 TBK1 binding protein 1 TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008] 17 17 17 q21.32 42225439 42242239 + 45771441 45789429 + 47694061 47712063 + 6480464;6907045 12477932;14743216;17213182;17568778;19481056;19820708;21743469;21903422;21906983;22190364;22797925;23286385;23443559;23637848;24255178;8889548;9872452 9755 A7MCY6;F5H1U4;J3KS71 AB018318;ABBA01041141;ABBA01041142;AC015674;AMYH02033525;AMYH02033526;BC111418;BC152407;BC167150;CB241552;CH471109;DT217050;NM_014726;XM_005257859;XM_005257860;XM_005257861;XM_005257862;XM_006722199 A7MCY6;AAI11419;AAI52408;AAI67150;BAA34495;EAW94805;EAW94806;NP_055541;XP_005257916;XP_005257917;XP_005257918;XP_005257919;XP_006722262 Hs.94790 2119476;2219588 ProSAPiP2__5594;WI-14964 KIAA0775;ProSAPiP2 SINTBAD;TANK-binding kinase 1-binding protein 1;TBK1-binding protein 1 APPROVED protein-coding ENSG00000198933 HGNC:30140 12239 608476 VALIDATED 1346534 TBL1X transducin (beta)-like 1X-linked The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008] X X X p22.3 13603270 13859701 + 9431335 9687780 + 9463295 9719740 + 1580863;6480464;6907045;8554872 10330347;10809664;10944117;11389839;11931768;12150997;12477932;12502735;12628926;14527417;14980219;15489334;15601853;16258276;17210713;17242407;17620012;18193033;18202150;18247557;18326024;18374649;18976975;19322201;20181957;20211142;21044950;21081666;21189284;21240272;21258344;21988832;22294699;22939629;23535732;23752268;24943844 6907 C9J5F9;C9JCW3;C9JP56;C9JYQ8;O60907 AB209608;ABBA01070725;ABBA01070726;ABBA01070727;ABBA01070728;ABBA01070729;ABBA01070730;ABBA01070731;ABBA01070732;ABBA01070733;ABBA01070734;ABBA01070735;ABBA01070736;ABBA01070737;ABBA01070738;ABBA01070739;ABBA01070740;ABBA01070741;ABBA01070742;ABBA01070743;ABBA01070744;ABBA01070745;ABBA01070746;AC002549;AC003036;AC073488;AK289409;AK290962;AMYH02038829;AMYH02038830;AMYH02038831;AMYH02038832;BC020374;BC029394;BC032708;BC052304;CH471074;KC877950;KC877954;NM_001139466;NM_001139467;NM_001139468;NM_005647;Y12781 AAH32708;AAH52304;BAD92845;BAF82098;BAF83651;CAA73319;EAW98771;EAW98772;NP_001132938;NP_001132939;NP_001132940;NP_005638;O60907 Hs.495656 1339235;1342231;1703042;1703056;1733388;1772314;1846598;1857195;2108557;2124822;2143378;2159530;5015861;5491872;7185938 D10S16;DXS1137;DXS1313;DXS6702;DXS7103;DXS8051;DXS9793;G13299;G23087;L77747;RH18266;SHGC-30326;TBL1X;TBL1X_8667 EBI;SMAP55;TBL1 F-box-like/WD repeat-containing protein TBL1X;OTTHUMP00000022879;OTTHUMP00000022880;transducin beta-like protein 1X;transducin-beta-like protein 1, X-linked APPROVED protein-coding ENSG00000101849 HGNC:11585 02183 300196 REVIEWED 1313752 TBK1 TANK-binding kinase 1 The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010] 12 12 12 q14.1 64510375 64560181 + 64845840 64895899 + 64452060 64502119 + 5685014;6480464;6907045;8554872 21235323 10581243;10783893;10990461;11839743;12133833;12477932;12568715;12692549;12702806;12761501;14530355;14560022;14702039;14743216;15276183;15367631;15485837;15489227;15489334;15556946;15619605;15661910;15695821;15841462;16051665;16127453;16153868;16155125;16223731;16281057;16344560;16380379;16393995;16394098;16537515;16887178;16888014;16914100;16973572;17018283;17327220;17526488;17568778;17599067;17823124;17991829;18307994;18353649;18508731;18583960;18614628;18636086;18977754;19017982;19153231;19160540;19307177;19380831;19419966;19615732;19656901;19820708;19847166;19953087;19955181;19958770;20098747;20174559;20304918;20331378;20449947;20462248;20562859;20588308;20628368;21048031;21074459;21139048;21204785;21270402;21332394;21364999;21447600;21464307;21492457;21617041;21813773;21832049;21868362;21885437;21903422;21906983;21911421;21931631;21939555;21963094;21987572;21988832;22072751;22079989;22127978;22261722;22306015;22330071;22388039;22394562;22505724;22610919;22619329;22745133;22787218;22792062;22851595;22851696;22908223;22939624;22945920;23007157;23028469;23096996;23157677;23209807;23286385;23308279;23395611;23395801;23421332;23453972;23542348;23649622;23675467;23717208;23836654;23950712;23962979;24027431;24056301;24062311;24250222;24255178;24335286;24349538;24449872;24468793;24549848;24622840;24696485;24699864;24797263;24807708;24872591;7706279;8601309;9721103 29110 F5GZI4;F5H1A3;F5H206;Q9UHD2 AA970899;ABBA01026603;AC135279;AC136977;AF174536;AF191838;AK002192;AK291039;AK303683;AMYH02026662;AMYH02026663;AW275367;BC034950;CH471054;DA788357;NM_013254;XM_005268809;XM_005268810 AAF05989;AAF69106;AAH34950;BAA92129;BAF83728;BAG64676;EAW97133;NP_037386;Q9UHD2;XP_005268866;XP_005268867 Hs.505874 1653980;1659321;1796904;2121270;2187022 D5S2649;RH15751;RH77769;TBK1_1450;WI-20972 FLJ11330;NAK;T2K NF-kB-activating kinase;NF-kappa-B-activating kinase;OTTHUMP00000239491;serine/threonine-protein kinase TBK1 APPROVED protein-coding ENSG00000183735 HGNC:11584 05322 604834 REVIEWED 6481177 TBL1XR1-AS1 TBL1XR1 antisense RNA 1 100874217 AC023235 APPROVED ncrna HGNC:41243 1348910 TBL1XR1 transducin (beta)-like 1 X-linked receptor 1 The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. [provided by RefSeq, Jul 2008] 3 3 3 q26.32 175142709 175319560 - 176738542 176915048 - 177020754 177197260 - 1580863;6480464;6907045;8554872 11063877;11931768;12477932;12628926;14527417;14702039;14980219;15489334;15601853;16469706;16893456;17242407;17316888;17620012;18029348;18193033;18202150;18326024;18374649;18767146;19032343;19322201;20379614;20547759;21081666;21139048;21258344;21532573;21642993;21890473;21906983;21963094;22079093;22190034;22496164;22837180;22863883;22939629;23000965;23022380;23291589;23752268;24243687;24457600;25036637 79718 C9IYU9;C9J3H2;C9J7E1;C9J903;C9JBN1;C9JCK0;C9JCW4;C9JEC9;C9JLJ1;C9JTW8;C9JY82;Q9BZK7 ABBA01058590;ABBA01058591;AC023235;AC078799;AF086399;AF267864;AF268193;AF314544;AK022956;AK025746;AK296946;AL598314;AMYH02008191;AMYH02008192;AMYH02008193;AMYH02008194;BC034712;BC048298;BC060320;BC092400;BC113421;BX648080;BX648935;CH471052;DB459301;KF457713;NM_024665;XM_005247771;XM_005247772;XM_005247775;XM_005247776;XM_006713745;XM_006713746 AAG44733;AAG44736;AAH48298;AAH60320;AAI13422;AAK00301;ADR83374;BAB14331;BAH12461;EAW78437;EAW78438;EAW78439;NP_078941;Q9BZK7;XP_005247828;XP_005247829;XP_005247832;XP_005247833;XP_006713808;XP_006713809 Hs.715026 1644936;1682742;1689346;1717911;1718153;1727753;1771560;1773469;1773964;1778607;1778609;1784698;1847010;1849246;2111878;2128587;2133254;2139575;2170902;5022761;5093582 A009S15;D3S3097;D3S4035;D3S4234;G32804;G63142;RH11791;RH122782;RH122844;RH41472;RH47416;RH65477;RH65544;SGC34530;SHGC-12205;SHGC-149434;SHGC-2932;SHGC-77559;SHGC-77560;SHGC-77561;TBL1XR1 C21;DC42;FLJ12894;IRA1;TBLR1 F-box-like/WD repeat-containing protein TBL1XR1;OTTHUMP00000211531;OTTHUMP00000211535;TBL1-related protein 1;nuclear receptor co-repressor/HDAC3 complex subunit;nuclear receptor corepressor/HDAC3 complex subunit TBLR1;transducin beta-like 1X-related protein 1 APPROVED protein-coding ENSG00000177565 HGNC:29529 15476 608628 REVIEWED 2793698 TBL1YP1 transducin (beta)-like 1, Y-linked pseudogene 1 Y Y Y q11.223 7596091 7611738 + 22889141 22904787 + 20727255 20742901 + 12815422 286555 ABBA01057470;ABBA01057471;ABBA01057472;ABBA01057473;AC009494;NG_002819 2188719;2188725;5115644 G66562;G66565;TBL1Y-12 TBL1YP pseudo HGNC:23979 INFERRED 1345065 TBL1Y transducin (beta)-like 1, Y-linked The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Y Y Y p11.2 2256970 2437322 - 6778727 6959977 + 6910686 7091936 + 1580863;6480464;6907045 12477932;12815422;14660691;14702039;18511697;19605777;21189284;22280357;24457600 90665 Q9BQ87 ABBA01034843;ABBA01034844;ABBA01034845;ABBA01034846;ABBA01034847;ABBA01034848;ABBA01034849;ABBA01034850;ABBA01034851;ABBA01034852;ABBA01034853;ABBA01034854;ABBA01034855;ABBA01034856;ABBA01034857;ABBA01034858;ABBA01034859;ABBA01034860;ABBA01034861;ABBA01034862;ABBA01034863;AC011297;AC012068;AF332220;AF332221;AF332222;AK056903;AK298210;BC130471;BC130473;CH471163;NM_033284;NM_134258;NM_134259;XM_005262572;XM_005262573 AAI30472;AAI30474;AAK13472;AAK13473;AAK13474;ADR83034;BAG60480;EAW59126;EAW59127;EAW59128;NP_150600;NP_599020;NP_599021;Q9BQ87;XP_005262629;XP_005262630 Hs.664560 1655574;1748653;1777201;1791177;1791183;2140462;2188229;2188235;2188239;2188241;2188247;5021634;5021636;5022887;5022889;5037552;5115644;5115646;5115648;5115650;5115652;5115654;5115656;5115658;5115660;5115662;5115664 D11S2472;D8S2279;DYS266;G66288;G66291;G66293;G66294;G66297;L77856;SHGC-110324;TBL1Y-10;TBL1Y-12;TBL1Y-13;TBL1Y-14;TBL1Y-15;TBL1Y-16;TBL1Y-17;TBL1Y-2;TBL1Y-3;TBL1Y-4;TBL1Y-5;TBL1Y-6;TBL1Y-7;TBL1Y-8;TBL1Y-9;sY1238;sY1321 TBL1 F-box-like/WD repeat-containing protein TBL1Y;OTTHUMP00000033224;OTTHUMP00000033225;OTTHUMP00000033226;transducin beta-like 1;transducin beta-like protein 1Y;transducin-beta-like protein 1, Y-linked APPROVED protein-coding ENSG00000092377;ENSG00000279102 HGNC:18502 15962 400033 REVIEWED 1354068 TBL2 transducin (beta)-like 2 This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68461190 68470928 - 72983274 72993013 - 73568944 73578683 - 6480464 10575226;11230166;12477932;12975309;16140988;18029348;18193043;18193044;18596051;18781797;18996102;19615732;19656773;20562859;20570916;20571754;20679960;20686565;20864672;20972250;21139048;21145461;21182205;21890473;21906983;21909109;21963094;22505724;22797925;22939629;22952844;23251661;23505323;23564352;24097068;24457600;24654937;24816145;9860302 26608 E9PF19;F2Z3G3;F8WB62;F8WBD9;F8WBP2;F8WCC7;F8WCR3;F8WDI9;F8WEC3;Q96E41;Q9Y4P3 ABBA01063951;AC005089;AF056183;AF097484;AF097485;AK000536;AK026529;AK074619;AK130791;AK302265;AK302277;AK314499;AL080162;AMYH02016024;AY358518;BC006308;BC012938;BC047354;BC114361;BQ025092;BX420755;CH471200;FB342985;FB711108;NG_023281;NM_012453;XM_006715923 AAD28083;AAF06823;AAF06824;AAH12938;AAQ88882;ABM82422;ABM85613;BAC11093;BAG37099;BAG63612;BAG63621;CAB45751;CAR81493;CAS91509;EAW69670;EAW69671;EAW69672;NP_036585;Q9Y4P3;XP_006715986 Hs.647044 1656186;1773969;2180319;5037552 D7S2092E;D7S2635;D7S2828;D8S2279 DKFZp434N024;MGC134739;WBSCR13;WS-betaTRP OTTHUMP00000160428;OTTHUMP00000211559;OTTHUMP00000211565;WS beta-transducin repeats protein;Williams-Beuren syndrome chromosome region 13;transducin beta-like protein 2;williams-Beuren syndrome chromosomal region 13 protein APPROVED protein-coding ENSG00000106638 HGNC:11586 09319 605842 REVIEWED 1313000 TBL3 transducin (beta)-like 3 The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2234243 2240930 + 2022064 2028751 + 1972063 1978750 + 1580863;6480464;6907045 11790298;12429849;12477932;14702039;15635413;16169070;16189514;17255935;18029348;18247557;19454010;19615732;19724895;20198315;21139048;21252943;21890473;21906983;21963094;22178446;22586326;22751105;24457600;24639526;24654937;24816145;25027693;8307582 10607 H3BN88;J3KNP2;Q12788 AB209173;ABBA01030284;AC005363;AC005606;AK095076;AMYH02031241;BC002361;BC007620;BC010231;BC014007;BC021563;BC035409;CH471112;NM_006453;U02609 AAA18945;AAH07620;AAH10231;AAH14007;AAH35409;BAD92410;EAW85585;EAW85586;EAW85587;EAW85588;EAW85589;NP_006444;Q12788 Hs.513267 1657493 SHGC-60750 SAZD;UTP13 OTTHUMP00000158898;WD repeat-containing protein SAZD;WD-repeat protein SAZD;transducin beta-like protein 3 APPROVED protein-coding ENSG00000183751 HGNC:11587 09327 605915 REVIEWED 1315592 TBPL1 TBP-like 1 This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011] 6 6 6 q22.1-q22.3 135015381 135049709 + 134273308 134308638 + 133952170 133987500 + 6480464;6907045 10082669;10220372;10570139;11861477;12477932;14574404;15269281;15489334;15673318;15767669;16169070;17353931;17643375;18482256;19322201;19369647;19858204;20811636;21139048;21832049;22511763;9889269 9519 P62380;Q7Z6T9;Q7Z6U0;Q7Z6U1;Q7Z6U2 AB020881;ABBA01025866;AF130312;AF136570;AI187713;AK292320;AK313645;AL035699;AMYH02014521;AMYH02014522;BC000381;BC017559;BI560657;BI828497;CH471051;KF458296;NG_031808;NM_001253676;NM_004865;R42082 AAD24800;AAD28785;AAH00381;AAH17559;ABZ92461;BAA75218;BAF85009;BAG36402;EAW47995;EAW47996;EAW47997;EAW47998;NP_001240605;NP_004856;P62380 Hs.486507 2219740 TBPL1_3512 MGC:8389;MGC:9620;STUD;TLF;TLP;TRF2 21 kDa TBP-like protein;21-kDA TBP-like protein;OTTHUMP00000017240;OTTHUMP00000017241;OTTHUMP00000017242;TATA box binding protein-related factor 2;TATA box-binding protein-like protein 1;TATA box-binding protein-related factor 2;TBP-like factor;TBP-like protein 1;TBP-related factor 2;TBP-related protein;second TBP of unique DNA protein APPROVED protein-coding ENSG00000028839 HGNC:11589 09272 605521 REVIEWED 1342829 TBPL2 TATA box binding protein like 2 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN DNA-templated transcription, initiation (inferred); multicellular organismal development (inferred); negative regulation of transcription, DNA-templated (inferred); PARTICIPATES IN Huntington disease pathway; FOUND IN cytoplasm; nucleus; INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 14 14 14 q22.3 35930314 35956646 - 55880928 55907263 - 55414210 55440545 - 6480464;6907045 12477932;14634207;17570761;17643375;17704303;18555775;18976975;19351825;20379614 387332 G3V454;Q6SJ96 ABBA01018207;AL356801;AMYH02029239;AMYH02029240;AY457923;BC117159;BC117185;CH471061;DQ448593;NM_199047 AAI17160;AAI17186;AAR24281;ABD93323;ADR83151;EAW80675;EAW80676;NP_950248;Q6SJ96 Hs.528278 1727235;1764553;1774533;1854968;2163894 G35708;G35982;G36200;G62872;SHGC-148141 TBP2;TRF3 OTTHUMP00000179014;TATA box-binding protein-like protein 2;TATA box-binding protein-related factor 3;TBP-like protein 2;TBP-related factor 3 protein-coding HGNC:19841 10607 608964 VALIDATED 68980 TBP TATA box binding protein Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 32-39, and expansion of the number of repeats increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010] 6 6 6 q27 171658683 171677210 + 170863384 170881958 + 170554333 170572870 + 1580863;5684015;5684339;5684350;5684014;6480464;5684338;5684349;5684348;5684344;6907045;7240710;8548475;8699517 11448935;12531510;14693397;15193429;15381080;15850778;16054804;20046924;21705419 10066804;10196196;10197586;10215616;10359315;10373544;10391676;10409662;10410676;10441524;10449590;10454562;10454579;10484774;10567391;10567404;10591645;10593900;10619841;10648625;10816571;10839990;10921893;11005381;11029584;11080158;11080476;11094070;11113176;11118327;11149922;11160734;11250903;11278496;11313753;11313951;11438666;11461703;11509574;11564744;11564863;11593411;11595744;11696545;11809839;11893333;11939898;11944977;11959865;11959914;11960008;11968006;12040021;12089333;12107178;12217962;12379483;12392551;12453419;12477932;12535529;12538582;12621023;12665565;12676957;12697807;12753906;12767124;12775419;12791683;12805114;12853230;12917344;12941701;12972251;14574404;14580349;14585974;14612417;1465435;14755733;14756671;14763955;14963322;14978680;14985389;15099517;15197246;15207618;15225551;15226435;15280358;15315821;15328344;15333839;15365789;15503103;15509807;15521976;15545613;15574413;15637059;15641800;15710329;15719058;15723054;15848047;15870280;15870300;15893730;15899866;15932940;16055710;16169070;16271277;16337145;16389595;16469772;16522640;16532453;16540471;16687213;16713569;16847693;16858508;17011493;17033685;17074809;17111193;17149738;17203973;17268553;17318177;17375202;17474109;17499043;17643375;17681538;17846415;17853080;17877750;17884155;17934876;17967894;17994014;18218637;18391197;18418687;18553934;18651325;1870994;18710943;18765812;18838386;18931662;18950845;19199812;19235102;19235719;19240132;19259763;19285969;19322201;19380697;1939271;19566714;19581089;19615732;19635797;19805548;19861239;20004653;20083121;20301317;20301387;20301402;20301611;20451497;20831744;20864379;21106530;21139048;21334959;21450820;21489275;21554323;21729782;21884934;21890473;21906983;2194289;21963094;21980299;22323595;2247058;22872568;22889412;22939629;23000965;23062343;23326349;23332750;23424617;23454483;23494474;2363050;23699518;2374612;23811755;24039962;24243817;24418534;2449431;24816145;7590250;7597030;7608968;7624363;7667268;7667283;7671313;7680771;7685215;7706261;7724559;7729427;7744009;7775442;7799929;7801123;7835343;7848298;7923369;7926747;7933101;7935440;7958900;7959752;7959796;8006019;8065335;8121496;8202368;8207805;8224850;8230415;8255752;8413269;8423815;8434021;8524284;8552083;8577725;8621548;8626665;8628302;8633057;8643494;8650542;8663456;8670810;8680883;8700832;8754792;8755740;8757291;8764009;8764062;8794892;8835540;8858156;8889548;8946909;8995708;9002523;9027316;9045704;9050847;9054383;9054408;9089417;9111364;9121429;9153318;9159119;9171375;9238003;9242374;9259327;9267036;9271120;9292011;9295363;9305922;9311784;9372921;9388200;9400991;9405375;9482861;9488487;9584164;9603525;9603936;9632719;9649342;9660973;9674425;9677423;9710587;9710597;9722567;9748258;9765201;9792714;9812988;9814863;9843967;9858607;9874563;9880542 6908 H0Y6D8;P20226;Q32MN6;Q32MN7;Q7Z6S4;Q7Z6S5 ABBA01030857;AK298272;AK304648;AK315222;AL031259;AMYH02015013;AMYH02015014;BC109053;BC109054;BC110341;BM720195;BT019657;CA422572;CH471051;CR456776;EU796944;FJ770048;L37705;M34960;M55654;NG_008165;NM_001172085;NM_003194;X54993;Z22828 AAA36731;AAC03409;AAI09054;AAI09055;AAI10342;AAV38463;ACE86620;ACE87301;ACE87771;ACJ04979;ACN86311;ACT64436;BAG60533;BAG65425;CAA38736;CAG33057;EAW47418;EAW47419;NP_001165556;NP_003185;P20226 Hs.590872 1741281;1743107;1745945;1788658;1849428;1853905;5094808 AGC001b;G64292;GDB:180309;GDB:262118;RH18157;STS-M55654;WI-18913 GTF2D;GTF2D1;HDL4;MGC117320;MGC126054;MGC126055;SCA17;TFIID OTTHUMP00000017703;TATA sequence-binding protein;TATA-box binding protein N-terminal domain;TATA-box factor;TATA-box-binding protein;transcription initiation factor TFIID TBP subunit APPROVED protein-coding ENSG00000112592 HGNC:11588 02511 168600;600075;607136 REVIEWED 1343708 TBR1 T-box, brain, 1 This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. A similar protein has been disrupted in mice and shown to be critical for early cortical development, and causes loss of projection neurons in the olfactory bulbs and olfactory cortex. The C-terminal region this similar protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Jul 2008] 2 2 2 q24 155884680 155893641 + 162272620 162282381 + 161416109 161425062 + 1580863;6480464 10749215;11719470;12477932;15066269;15489334;15815621;21987572;7619531 10716 H7C0B1;Q16650 ABBA01004886;ABBA01004887;AC009487;AK226050;AK297438;AK299533;AK312567;AK315865;AK316161;AMYH02005089;BC029289;BC104844;BC113418;BI820633;CH471058;NM_006593;U49250 AAA92010;AAH29289;AAI04845;AAI13419;AAY15017;ADR83340;BAF98756;BAG35462;BAH12582;BAH13061;BAH14532;EAX11368;EAX11369;NP_006584;Q16650 Hs.210862 1645242;5115666 1704;TBR1 MGC141978;TBR-1;TES-56 OTTHUMP00000204562;OTTHUMP00000204563;OTTHUMP00000204564;T-box brain protein 1;T-brain-1 APPROVED protein-coding HGNC:11590 07055 604616 REVIEWED 1312969 TBRG1 transforming growth factor beta regulator 1 INVOLVED IN cell cycle arrest; DNA replication; negative regulation of cell proliferation; FOUND IN intracellular membrane-bounded organelle; nucleus; INTERACTS WITH copper atom; copper(0); cyclosporin A 11 11 11 q24.2 121652919 121665998 + 124492742 124505822 + 124622846 124635926 + 737633;6480464 12477932 14702039;15489334;16303743;16344560;16582619;16751776;17110379;18582208;20506279;7654366;8125298 84897 E9PI10;E9PK87;F8W6N5;Q3YBR2 ABBA01031255;AK027527;AK027766;AK057749;AK074140;AK074594;AK222936;AL713631;AL831881;AMYH02025722;AMYH02025723;AP001524;AX876529;AY696294;BC018452;BC032312;BC041043;BC064392;BC073160;BC107428;BC109269;CH471065;DA292015;DQ144542;NM_032811;NR_016021;XM_005271709;XM_005271711;XR_428983 AAH18452;AAH32312;AAH41043;AAH73160;AAI09270;AAU10523;AAZ76016;BAB55177;BAB71559;BAB84966;BAD96656;CAD28450;CAE89317;CAH10595;EAW67589;EAW67590;NP_116200;Q3YBR2;XP_005271766;XP_005271768 Hs.436410 1650280;1682229;1698744;1740805;1775857;1798242;1848665;2109201;2121355;2127823;2131270;2179767;5015881;5022578;5022651 CSE-_C_9780;D11S2921;D11S4436;D1S1423;GDB:335751;RH102935;RH28305;SHGC-36823;SHGC-63523;STS-N22394;STS-N30903;STS-N35713;STS-N66850;STS-T95820;TBRG1_2593 FLJ14621;FLJ25020;FLJ90113;MGC129890;NIAM;TB-5 OTTHUMP00000202914;nuclear interactor of ARF and MDM2 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H protein-coding HGNC:29551 15477 610614 VALIDATED 1320236 TBRG4 transforming growth factor beta regulator 4 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cellular respiration (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one; all-trans-retinoic acid 7 7 7 p13 45238535 45250160 - 45139699 45151346 - 45100100 45111747 - 6480464;8554872 10231032;11256614;12477932;12690205;12759187;14702039;15489334;16169070;16344560;16964243;17353931;20379614;20877624;21139048;21890473;21906983;22190034;23956138;24816145;8125298;9383053 9238 B3KM73;B3KRS4;B4DU42;C9IZN7;C9J347;C9J5A2;C9J618;C9J7P5;H7C4R5;Q969Z0 AB023165;ABBA01058248;AC013416;AF011792;AK001281;AK022575;AK092132;AK222943;AK298155;AK300489;AL833840;AMYH02015637;BC002732;BC014918;BC017235;BG703429;BM150942;CH236960;CH471128;DA980367;NM_001261834;NM_004749;NM_030900;NM_199122 AAB69312;AAH02732;AAH14918;AAH17235;ABM85092;BAA76792;BAD96663;BAG50885;BAG51095;BAG52486;BAG62204;BAH12734;CAD38700;EAL23744;EAL23745;EAW61051;EAW61052;EAW61053;EAW61054;EAW61055;EAW61056;NP_001248763;NP_004740;NP_112162;NP_954573;Q969Z0 Hs.231411;Hs.741611 1712226;1770205;5014063;5016781 D15S1390;G54021;RH66403;SHGC-67307 CPR2;FASTKD4;H_TD2522F11.8;KIAA0948 FAST kinase domain-containing protein 4;FAST kinase domains 4;OTTHUMP00000159555;OTTHUMP00000159556;OTTHUMP00000159557;OTTHUMP00000214261;OTTHUMP00000214262;cell cycle progression 2 protein;cell cycle progression protein 2;cell cycle progression restoration protein 2 protein-coding ENSG00000136270 HGNC:17443 10263 611325 VALIDATED 1317100 TBX1 T-box 1 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 3596280 3623183 + 19744226 19771116 + 19756703 19783593 + 1578373;1580863;6480464;7240710;8554872;8699517 15703190 11111039;11585671;11748311;12533514;12858556;1360769;14585638;15337468;16586352;16684884;16854283;17273972;17377518;17438107;17479646;17622328;17850965;19050236;19336370;19407855;19467348;19645056;19948535;20071775;20301696;20497193;20634891;20811636;20937753;21041608;21796729;22164283;22185286;22801995;22842189;22893440;22931165;23000736;23034814;23725790;23945394;24295890;24998776;9268629 6899 D9ZGG0;O43435;Q152R5 ABBA01005404;ABBA01005405;ABBA01005406;AC000091;AF012130;AF012131;AF373867;AMYH02038048;AMYH02038049;AMYH02038050;AMYH02038051;CH471176;DQ650705;FJ515849;HM015598;NG_009229;NM_005992;NM_080646;NM_080647;XM_005261269;XM_006724312 AAB94018;AAB94019;AAK58955;ABG25916;ACS13740;ACS13741;ACS13742;ACX32330;ADL14519;EAX03024;EAX03025;EAX03026;NP_005983;NP_542377;NP_542378;O43435;XP_005261326;XP_006724375 Hs.173984 CAFS;CATCH22;CTHM;DGCR;DGS;DORV;TBX1C;TGA;VCF;VCFS OTTHUMP00000197322;OTTHUMP00000197323;OTTHUMP00000197324;T-box 1 transcription factor C;T-box protein 1;T-box transcription factor TBX1;Testis-specific T-box protein;brachyury;t-box transcription factor TBX1 1;t-box transcription factor TBX1 2 APPROVED protein-coding ENSG00000184058 HGNC:11592 09069 187500;188400;192430;217095;602054 REVIEWED 1342498 TBX10 T-box 10 This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010] 11 11 11 q13.2 64733226 64741484 - 67398774 67407031 - 67631303 67639560 - 1580863;6480464;8554872 12477932;12915323;15703190;16247549;16285859;16327884;20544801;20572854;20634891;20672350;9545502 347853 O75333 ABBA01024026;AMYH02024997;AP003385;AY229977;BC113485;BC113487;CH471076;NM_005995 AAI13486;AAI13488;AAO73483;ADR82958;EAW74662;NP_005986;O75333 Hs.454480 1798244 TBX10_2578 TBX13;TBX7 OTTHUMP00000235632;T-box 7;T-box protein 10;T-box transcription factor TBX10;T-box-containing transcriptional activator APPROVED protein-coding ENSG00000167800 HGNC:11593 06872 604648 REVIEWED 1317666 TBX15 T-box 15 This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009] 1 1 1 p11.1 117656516 117763011 - 119425666 119532179 - 118883043 118989556 - 1580863;6480464;7240710;8699517;8554872 12477932;14702039;16710414;19068278;20379614;20634891;20935629;20962579;23670221;23708190;24039145;9693034 6913 Q5JT55;Q8N8P2;Q96SF7 ABBA01068510;AK096396;AK127536;AL139420;AL357045;AMYH02001809;BC122553;BX537778;CA412451;CA436813;CH471122;NG_013361;NM_152380;XM_005271161;XM_005271162 AAI22554;BAC04776;BAG54518;CAD97837;EAW56691;NP_689593;Q96SF7;XP_005271218;XP_005271219 Hs.146196 1666994;1691916;1692314;1692786;1709396;1723217;1727205;1755737;2160171;2191247;2218082 AL033622;AL033752;AL033812;G62857;MARC_16759-16760:1020873220:1;RH122292;SHGC-142585;SHGC-53876;SHGC-75396;SHGC-81722;TBX15_3309 TBX14 OTTHUMP00000014159;OTTHUMP00000014269;T-box 14;T-box protein 14;T-box protein 15;T-box transcription factor TBX14;T-box transcription factor TBX15 APPROVED protein-coding ENSG00000092607 HGNC:11594 16035 260660;604127 REVIEWED 1350500 TBX18 T-box 18 This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012] 6 6 6 q14-q15 85871383 85901128 - 85442214 85473954 - 84687436 84764624 - 1580863;6480464;8554872 12477932;14574404;16688725;17584735;19213963;21205823;23242162;23749171;9888994 9096 O95935;U3KQ31;U3KQH2;U3KQQ9 ABBA01040468;AJ010278;AK310179;AL035694;AL590143;AMYH02014031;BC040697;BC132715;BC157841;CH471051;NM_001080508;XM_006715602 AAH40697;AAI32716;AAI57842;ADR83216;CAB37937;EAW48639;NP_001073977;O95935;XP_006715665 Hs.251830 1335595;1657588;1674759;1699062 D6S1475;D6S1627;RH103106;RH47634 OTTHUMP00000016807;T-box protein 18;T-box transcription factor TBX18 protein-coding ENSG00000112837 HGNC:11595 604613 REVIEWED 1322243 TBX2 T-box 2 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q23.2 58578306 58587856 + 59477257 59486827 + 61399896 61409466 + 1578402;1580863;6480464 15781639 10468588;11111039;11748239;12000749;12023302;12477932;12873224;14595187;14702039;15042700;15489334;16730707;17407139;18025091;18029348;18391951;18640248;18829543;19216023;19266077;19453261;19469638;19633291;19893584;19960541;20211142;20348948;20383145;20383146;20502058;20534814;20546612;20635360;20881960;21271665;22002537;22284968;22844464;23020925;23388722;23595631;23727221;23959449;24113180;24470334;25027744;8530034;8597636;8889548;9434949;9710594 6909 F8WCM9;Q13207 AB209378;ABBA01035384;ABBA01035385;AC005746;AK001031;AL832900;AMYH02033741;AW006595;BC052566;BC070054;BM985069;CH471179;NM_005994;S81264;U28049 AAA73861;AAB36216;AAH52566;BAD92615;CAH10619;EAW51424;EAW51425;EAW51426;NP_005985;Q13207 Hs.531085 1794390;1798248;2161856 PMC311067P4;STS-W87459;TBX2_2169 FLJ10169 OTTHUMP00000211241;T-box protein 2;T-box transcription factor TBX2 APPROVED protein-coding ENSG00000121068 HGNC:11597 02850 600747 VALIDATED 8698876 TBX2-AS1 TBX2 antisense RNA 1 q23.2 103689912 AC005746;AI433672;AW026679;BM556191;NR_125749;NR_125750;NR_125751 Hs.410998 ncrna HGNC:50355 VALIDATED 1319719 TBX20 T-box 20 This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 7 7 7 p14.3 35226693 35278408 - 35242042 35293711 - 35202430 35254100 - 1580863;6480464;7240710;8554872;8699517 10936053;12477932;12690205;12853948;14550786;15489334;17668378;18275040;18834961;19414016;19762328;20200978;20211142;21586270;21963094;22465533;23871353;24247152;9847074 57057 Q9UMR3 ABBA01056887;AC005826;AC006379;AC009531;AJ237589;AMYH02015511;AMYH02015512;BC120945;BC120946;CH236951;CH471073;DQ986374;HM015599;KF511021;NG_015805;NM_001077653;NM_001166220 AAD21787;AAI20946;AAI20947;ABJ15760;ADL14520;CAB51916;EAL23971;EAW94048;NP_001071121;NP_001159692;Q9UMR3 Hs.404167 1339246;1775042;1790399;2156250;5017556;7187986 D7S3242;D7S484;G16027;GDB:3750008;TBX20 ASD4 OTTHUMP00000125259;T-box protein 20;T-box transcription factor TBX20 APPROVED protein-coding ENSG00000164532 HGNC:11598 06931 606061;611363 REVIEWED 1320875 TBX19 T-box 19 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008] 1 1 1 q24.2 141359305 141392691 + 168250278 168283664 + 168281040 168314426 + 1599334;1580863;6480464;7240710;8554872;8699517 11290323 11916612;12477932;12651888;12651892;12970370;14702039;15476446;15489334;15613420;15666849;16390921;16710414;16899054;17652218;18029348;19064610;19536175;21622576;22170728;22193973;9888994 9095 B3KRD9;H0Y4B1;H0Y5A7;O60806 ABBA01047231;AJ010277;AK091862;AK129813;AL009051;AMYH02002103;AMYH02002104;BC093664;BC093666;CH471067;NG_008244;NM_005149 AAH93664;AAH93666;ABZ92200;CAB37936;EAW90824;NP_005140;O60806 Hs.716656 1340930;2116103 D1S2658;G35325 FLJ26302;FLJ34085;FLJ34543;TBS 19;TBS19;TPIT;dJ747L4.1 OTTHUMP00000032583;OTTHUMP00000038458;T-box factor, pituitary;T-box protein 19;T-box transcription factor TBX19 APPROVED protein-coding ENSG00000143178 HGNC:11596 05214 201400;604614 REVIEWED 1343120 TBX22 T-box 22 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q21.1 79510188 79527202 + 79270255 79287268 + 80014756 80035752 + 724722;1580863;6480464;7240710;8699517;8554872 12374769 11024289;11559848;11733204;12477932;14702039;14729838;15489334;15772651;16247549;17846996;17868388;18029348;19648124;20572854;20672350;21248356;21832049;22784330;22939624 50945 B3KUL8;Q9Y458 ABBA01049078;AF251684;AK097514;AL031000;AMYH02039840;AY035371;BC014194;CH471104;DB456367;FJ228480;FJ228481;NG_008998;NM_001109878;NM_001109879;NM_016954;XM_005262136;XM_005262137;XM_005262138;XM_006724657;XM_006725417;XM_006725418;XM_006725419;XM_006725420;XR_430822 AAG23749;AAH14194;AAK63189;ACP42194;ADZ15389;BAG53480;EAW98588;EAW98589;NP_001103348;NP_001103349;NP_058650;Q9Y458;XP_005262193;XP_005262194;XP_005262195;XP_006724720;XP_006725480;XP_006725481;XP_006725482;XP_006725483 Hs.374253 1796906;2114622;2121343 D12S396;L47783;TBX22_728 CLPA;CPX;TBXX;dJ795G23.1 ABERS;OTTHUMP00000023602;OTTHUMP00000023603;OTTHUMP00000023604;T-box protein 22;T-box transcription factor TBX22 APPROVED protein-coding ENSG00000122145 HGNC:11600 02253 300307;302905;303400 REVIEWED 1349477 TBX23 T-box 23 57160 HGNC:11601 1317938 TBX21 T-box 21 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 42263420 42276290 + 45810610 45823485 + 47733244 47746119 + 1580863;6480464;6484113;7240710;8699517;8554872 10761931;11087660;12128215;12477932;12938094;12960249;15131585;15241679;15248849;15489334;15604153;15632006;15684083;15712176;15737643;15806396;15860546;15927679;16179640;16210653;16273099;16434488;16487356;16498264;16750991;16874959;17074191;17075044;17082665;17117487;17237380;17325860;17378728;17445472;17445473;17541280;17667540;17703412;17705132;17949803;17993020;18212358;18300036;18414429;18504404;18504423;18619618;18753235;18840707;19168793;19176008;19234223;19258923;19269192;19287198;19298946;19307156;19336263;19348920;19362357;19362685;19473434;19535634;19615257;19639723;19691533;19692128;19757302;19805038;19818655;19861286;19879772;19915058;19923468;19950257;20056084;20175803;20193034;20211142;20237292;20333526;20429676;20503287;20634891;20675595;20713880;20855629;20974984;20977921;21055151;21114556;21177324;21239533;21272048;21289214;21289310;21468546;21642544;21780995;21988832;22014209;22133489;22190364;22258560;22261438;22303482;22336257;22391183;22416188;22430437;22490682;22513824;22521571;23095752;23243425;23308012;23333304;23334427;23413906;23440501;23455505;23479229;23607257;23608226;23855758;24235972;24262372;24495857;24660543;24845384;8125298 30009 Q53EK5;Q9UL17 ABBA01041142;AC015674;AF093098;AF241243;AK223634;AMYH02033526;BC039739;CH471109;GN337430;GN337449;NG_012166;NM_013351 AAF00055;AAF61243;AAH39739;BAD97354;CAY39299;CAY39301;EAW94804;NP_037483;Q9UL17 Hs.272409 1334934;1794886;1798246 D17S806;PMC64996P1;TBX21_2087 T-PET;T-bet;TBET;TBLYM T-box expressed in T cells;T-box protein 21;T-box transcription factor TBX21;T-cell-specific T-box transcription factor T-bet;transcription factor TBLYM APPROVED protein-coding ENSG00000073861 HGNC:11599 05355 208550;604895 REVIEWED 1345948 TBX3 T-box 3 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 q24.21 114735560 114749458 - 115108059 115121969 - 114670254 114684164 - 1601419;1580863;2300329;5132891;6480464;7240710;8554872;8699517 10330342;17031801;19341743 10468588;11689487;11748239;12000749;12005433;12032820;12116211;12477932;12668170;14702039;15289316;15489334;16049973;16530712;16556916;16955224;17081983;17234970;17273972;18029348;18245468;18726671;18829543;19218121;19322201;19403417;19430479;19453261;19913121;20062060;20133910;20414254;20467438;20628086;20702496;20936779;20942798;21045733;21098263;21160077;21199695;21538160;21572416;21784138;21909110;22154512;22284968;22532574;22865636;23082988;23116943;23190890;23266556;23388722;23656610;23667531;24025717;24098938;8988164;9207801 6926 O15119 ABBA01019977;AC010177;AC026765;AF002228;AF074999;AF140240;AF170708;AF216750;AK054604;AK075457;AK304639;AMYH02027258;AY034105;BC025258;CH471054;NG_008315;NM_005996;NM_016569 AAC12947;AAD50989;AAF61207;AAF61816;AAH25258;ABM83784;ABM87105;BAG65418;EAW98069;EAW98070;EAW98071;EAW98072;EAW98073;EAW98074;NP_005987;NP_057653;O15119 Hs.744016 1672420;1698586;1798250;2135737;2170619 D12S2090;RH102845;RH69906;STS-T94297;TBX3_2272 TBX3-ISO;UMS;XHL OTTHUMP00000241621;OTTHUMP00000241622;T-box protein 3;T-box transcription factor TBX3;bladder cancer related protein XHL APPROVED protein-coding ENSG00000135111 HGNC:11602 03373 181450;601621 REVIEWED 1319185 TBX4 T-box 4 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008] 17 17 17 q21-q22 58634841 58662701 + 59529134 59562471 + 61451773 61485110 + 1601422;1580863;6480464;7240710;8554872;8699517 15106123 10199965;10945475;12477932;15231748;18391951;19453261;19893584;20546612;20634891;20887794;21271665;22678995;23592887;24592505;8878690 9496 K7EPY2;P57082 ABBA01035383;AC005901;AF188703;AK310312;AMYH02033741;AMYH02033742;BC136403;BC142620;BC144062;CH471179;NG_008080;NM_018488;XM_005257835;XM_005257836;XM_005257837;XM_005257838 AAF68854;AAI36404;AAI42621;AAI44063;EAW51428;NP_060958;P57082;XP_005257892;XP_005257893;XP_005257894;XP_005257895 Hs.143907 5094922 TKY3518 SPS T-box protein 4;T-box transcription factor TBX4 APPROVED protein-coding ENSG00000121075 HGNC:11603 03424 147891;601719 REVIEWED 6770504 TBX5-AS1 TBX5 antisense RNA 1 12 12 12 q24.21 114473944 114478023 + 114846000 114850637 + 114408195 114412832 + 14702039;8889548 255480 ABBA01019973;AC069240;AK091766;AMYH02027252;BM970213;CB992854;HG505200;LK938789;NG_007373;NR_038440;U47671 AAD11471 Hs.567915 1666358;1699282;1700654 RH103223;RH103950;SGC44506 RP11-385N17.1 APPROVED ncrna HGNC:27402 VALIDATED 1317068 TBX6 T-box 6 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008] 16 16 16 p11.2 72692515 72698605 + 30097114 30103258 - 30085793 30091937 - 1578435;1578436;1580863;6480464;7240710;8699517;8554872 15864811;15986483 12477932;14702039;15489334;17584735;18466071;20228709;23335591;23455924;23954021;24722188;9888994;9933572 6911 O95947 ABBA01013105;AC012645;AC093512;AC243947;AJ007989;AJ010279;AK022330;BC026031;CH471238;KJ534981;KJ535035;NG_023283;NM_004608;XM_005255523 AAH26031;ABZ92188;AHW56621;AHW56674;BAB14014;CAA07812;CAB37938;EAW79926;EAW79927;NP_004599;O95947;XP_005255580 Hs.198301 1680234;1798254;5015961;5022322 D11S2560;D15S1477;RH64991;TBX6_2324 DFNB67;SCDO5 OTTHUMP00000162995;T-box protein 6;T-box transcription factor TBX6 APPROVED protein-coding ENSG00000149922 HGNC:11605 03888 122600;602427 REVIEWED 1352487 TBXA1R thromboxane A1 receptor 6914 HGNC:11607 1313887 TBX5 T-box 5 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.1 114419103 114473633 - 114791735 114846247 - 114353930 114408442 - 1578431;6480464;7240710;7327219;7327215;7327217;1578428;8554872;8699517 11572777;18451335;20519243;23948075;8988165 10077612;10199965;10842287;10974675;11161571;11183182;11431700;11748310;12237100;12477932;12499378;12668595;12818525;12845333;12858531;14519429;15087119;15138308;15221798;15489334;15591049;15653675;16183809;16332960;16344560;16917909;17273972;17534187;17584735;18378906;18701034;18726671;18828908;19187613;19336370;19430479;19586889;19648116;19913121;20062060;20062063;20301290;20379614;20414254;20450920;20628086;20677014;20802524;20975709;21045733;21076409;21752519;21909110;22011241;22192413;22333898;22414880;22532574;22543974;22589738;22837378;22901678;23139255;23245941;23251661;23535732;23717681;8054982;8988164 6910 Q99593 AB051068;ABBA01019971;ABBA01019972;ABBA01019973;AC009260;AC069240;AF086146;AF221714;AK290611;AK300251;AMYH02027251;AMYH02027252;BC011028;BC027942;CB960757;CH471054;DA863182;NG_007373;NM_000192;NM_080717;NM_181486;U80987;U89353;XM_006719582;Y09445 AAC04619;AAC51644;AAF34659;AAH27942;ABZ92187;BAB55448;BAF83300;BAG62017;CAA70592;EAW98065;EAW98066;EAW98067;NP_000183;NP_542448;NP_852259;Q99593;XP_006719645 Hs.381715 1339080;1700654;1759597;1798252;2153501 D12S1646;RH103950;RH70967;SHGC-150881;TBX5_2215 HOS OTTHUMP00000232132;OTTHUMP00000232133;OTTHUMP00000232134;OTTHUMP00000232135;T-box protein 5;T-box transcription factor TBX5 APPROVED protein-coding ENSG00000089225 HGNC:11604 03372 142900;601620 REVIEWED 735834 TBXA2R thromboxane A2 receptor This gene encodes a member of the G protein-coupled receptor family. The protein interacts with thromboxane A2 to induce platelet aggregation and regulate hemostasis. A mutation in this gene results in a bleeding disorder. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 19 19 19 p13.3 3531342 3543669 - 3594504 3606831 - 3594506 3606833 - 1578439;1578440;1578445;1578446;1578448;1331525;1580863;1601447;1601450;6480464;6484113;7240710;8554872 11922633;12409963;14718360;15118671;15372102;15647606;15834430;7929844 10395940;10402514;10488151;11504827;11848439;11877412;12000493;12180983;12193606;12213432;12370102;12399457;12477932;12551898;12726995;12781781;12796499;14530262;14580363;14583632;14602550;14963009;14976202;15057824;15086532;15134434;15233797;15242977;15354262;15471868;15489334;15519496;15782186;15805995;15845539;15893915;15898979;16126723;16156795;16212421;16413928;16418336;16565578;16837469;16953279;16956790;17134677;17192347;17202780;17229546;17249521;17496729;17499743;17644091;17924829;18005048;18031559;18063812;18073117;18088317;18088343;18172303;18240029;1825698;18502100;18529068;18573679;18577758;18647220;18698092;18802021;18950617;19064572;19067769;19086263;19170518;19247692;19264973;19403042;19403525;19464661;19570744;19747485;19772916;19828703;19853959;19913121;20395296;20395963;20522022;20522800;20590159;20628086;20856817;20959415;21070398;21172430;21213014;21342433;21357687;21491143;21734400;21740787;21940795;22008592;22017802;22101342;22272267;22343716;23107873;23162015;23255603;23279270;23349788;23456445;23493750;23517037;23555978;23840660;24384873;24490858;7896853;7965765;8034687;8119956;8227091;8246916;8288221;8290554;8433523;8613548;9152406 6915 K7ER80;P21731;Q05C92;Q0VAB0 ABBA01002835;AC005175;AJ308102;AJ308103;AMYH02035259;AY429110;BC028027;BC074749;BC074750;BC121148;BC121149;BM990145;CH471139;D15056;DQ268653;NG_013363;NM_001060;NM_201636;U11271;U27325 AAA58957;AAA68608;AAC24302;AAC24303;AAH28027;AAH74749;AAH74750;AAI21149;AAI21150;AAR07905;ABB72549;BAA03649;EAW69301;EAW69302;NP_001051;NP_963998;P21731 Hs.442530 1685522;2131474;2136050;5015861;5020414;5037552;7185938 D10S16;D19S1079;D8S2279;L17688;RH80749;STS-AA039932 BDPLT13;TXA2-R prostanoid TP receptor APPROVED protein-coding ENSG00000006638 HGNC:11608 01768 188070;614009 REVIEWED 736923 TBXAS1 thromboxane A synthase 1 (platelet) This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 7 7 7 q34-q35 134200105 134441970 + 139478047 139720125 + 139778248 140020325 + 1601439;1601456;1601470;1580863;1601450;1601455;1601457;1601459;1601461;1601472;634088;1601473;1300048;6480464;6907045;7240710;8552712;8699517;8554872 10560941;11331452;12384182;12639842;14650360;15647606;16192456;22679221;8982653;9261862;9370383;9700944 10391209;10391210;11297515;11337467;11418589;11465543;11782360;11956185;12432933;12477932;12721789;12853948;14565864;14718574;15067173;15128046;15489334;15870920;16357168;1714723;17207965;1730669;18264100;19046748;19064572;19114962;19124506;19276290;1930241;19343046;19403042;19729601;19913121;20227257;20379614;20383787;2043115;20452482;20628086;20647010;20673868;20677014;20931532;21215134;21388528;21449675;2195994;22293189;22493072;22735388;23007406;23251661;23314748;23763970;23793025;24009185;24086445;24529757;6101498;7925341;7986068;8125298;8198598;8325653;8366093;8889548;8900410;8964509;9678486;9847074;9890157 6916 B7Z6W1;C9J8N6;C9JS68;E7ENP0;E7EP75;F8WC80;F8WD37;P24557;Q53F23 ABBA01034053;ABBA01034054;ABBA01034055;AC004914;AC004961;AC006021;AF233615;AF233616;AF233617;AF233618;AF233619;AF233620;AF233621;AF233622;AF233623;AF233624;AF233625;AK223466;AK296069;AK301049;AK301164;AK303440;AMYH02016895;AU099213;BC014117;BC041157;BM673654;CH236950;CH471070;D34625;KF459643;KF573672;L36085;M74055;M80646;M80647;NG_008422;NM_001061;NM_001130966;NM_001166253;NM_001166254;NM_030984;NR_029394;S60133 AAA36742;AAA60617;AAA60618;AAC01761;AAD21788;AAF99269;AAF99270;AAF99271;AAF99272;AAF99273;AAF99274;AAF99275;AAF99276;AAF99277;AAF99278;AAF99279;AAH14117;AAH41157;AAP21887;ADQ31780;BAA07011;BAD97186;BAG58828;BAG62753;BAG64487;BAH13397;EAW83934;EAW83935;EAW83936;NP_001052;NP_001124438;NP_001159725;NP_001159726;NP_112246;P24557 Hs.520757 1647754;1662761;1666067;1716233;1721205;1851507;1854363;2121416;2146085;2159305;2170491;2175695;2181043;2181885;2187255;5094386 D7S1986;D7S2000;D7S2734;G31117;G54648;G59443;GDB:1234284;GDB:1234290;GDB:1318585;GDB:3755023;GDB:3755104;GDB:4585667;GDB:4585705;RH121143;STS-T50718;TBXAS1 BDPLT14;CYP5;CYP5A1;FLJ52771;THAS;TS;TXAS;TXS GHOSAL;OTTHUMP00000211927;OTTHUMP00000211928;OTTHUMP00000211929;OTTHUMP00000211930;OTTHUMP00000211931;TXA synthase;cytochrome P450 5A1;cytochrome P450, family 5, subfamily A, polypeptide 1;platelet, cytochrome P450, subfamily V;thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A);thromboxane-A synthase APPROVED protein-coding ENSG00000059377 HGNC:11609 02035 231095;274180;614158 REVIEWED 1349748 TC2N tandem C2 domains, nuclear INVOLVED IN regulation of blood coagulation; regulation of gene expression; FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-) 14 14 14 q32.12 72298880 72386499 - 92246266 92333880 - 91779751 91867536 - 737633;1580863;6480464 12477932 11076863;11230166;11526914;14702039;15489334;15489336;16344560;16381901;19322201;21029358 123036 H0YJ73;Q8N9U0 ABBA01030467;ABBA01030468;AK093876;AK126359;AL121839;AL590328;AMYH02029752;AW275132;BC040503;BI547572;BX647828;BX648227;CH471061;DA857139;DB215118;DB236967;NM_001128595;NM_001128596;NM_001289134;NM_152332 AAH40503;BAC04238;BAC86538;CAL37569;CAL37937;EAW81462;EAW81463;EAW81464;NP_001122067;NP_001122068;NP_001276063;NP_689545;Q8N9U0 Hs.510262 1673569;1708436;1713277 RH120630;SHGC-85001;WI-16622 C14orf47;C2CD1;FLJ36557;MTAC2D1;Tac2-N C2 calcium-dependent domain containing 1;OTTHUMP00000245155;OTTHUMP00000245156;OTTHUMP00000245157;OTTHUMP00000245158;membrane targeting (tandem) C2 domain containing 1;membrane targeting tandem C2 domain-containing protein 1;tandem C2 domains nuclear protein;tandem C2 protein in nucleus protein-coding ENSG00000165929 HGNC:19859 11375 VALIDATED 1601822 TCAM1P testicular cell adhesion molecule 1, pseudogene This pseudogene is located downstream from the growth hormone locus on chromosome 17. This locus evolved by a series of partial duplications that have disrupted the human gene. A homologous gene in mouse encodes a testis-specific cell adhesion protein that may play a role in germ cell-Sertoli cell interactions. [provided by RefSeq, Apr 2012] 17 17 17 q23.3 56322493 56329856 + 61934376 61941739 + 63857016 63864379 + 6480464 11195349;19766163;20210993;2744760;9889334 146771 AB026156;ABBA01035317;AC015651;AMYH02033781;NR_002947 Hs.629177 1645175 RH71448 TCAM1 APPROVED pseudo ENSG00000240280 HGNC:30707 612756 VALIDATED 1605240 TCAIM T cell activation inhibitor, mitochondrial ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion; INTERACTS WITH (+)-catechin; 17beta-estradiol; amiodarone 3 3 3 p21.31 44317658 44388713 + 44379574 44450940 + 44338119 44409448 + 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15146197;15489334;15489336;16381901;19684086;20877624;21804023;23222918;23799424;24250222 285343 Q8N3R3 ABBA01024746;ABBA01024747;ABBA01024748;ABBA01024749;AC104187;AC134943;AK056593;AK123680;AK124087;AK292756;AL832473;AL833118;AMYH02006645;AMYH02006646;BC009400;BC038420;BC047231;BC062587;BC073829;BC101058;BC101059;BC101060;BC101061;CH471055;CN372173;DC413255;NM_001029839;NM_001029840;NM_001282913;NM_001282914;NM_001282915;NM_173826;XM_006713116 AAH09400;AAH38420;AAH47231;AAH62587;AAH73829;AAI01060;AAI01061;AAI01062;BAF85445;BAG51758;BAG54004;CAD38627;CAL38235;EAW64703;EAW64704;EAW64705;EAW64706;NP_001025010;NP_001025011;NP_001269842;NP_001269843;NP_001269844;NP_776187;Q8N3R3;XP_006713179 Hs.55131 1646158;1674137;1695868;1700618;5023483 RH103931;RH46999;SHGC-76887;SHGC-76890;SHGC-78812 C3orf23;DKFZp313N0621;FLJ41686;MGC119530;MGC119531;MGC119532;MGC119533;TOAG-1;TOAG1 OTTHUMP00000164044;OTTHUMP00000209294;OTTHUMP00000209295;OTTHUMP00000209307;OTTHUMP00000209308;T-cell activation inhibitor, mitochondrial;hypothetical protein LOC285343;tolerance associated gene-1;uncharacterized protein C3orf23 APPROVED protein-coding ENSG00000179152 HGNC:25241 13184 VALIDATED 1348921 TCAP titin-cap Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008] 17 17 17 q12 34481328 34482536 + 37821599 37822807 + 39665346 39666554 + 1580863;6480464;7240710;8554872;8699517 10655062;10984498;11697903;11699871;11763198;11842093;11846417;12209887;12446666;12477932;12507422;14702039;15010812;15136035;15489334;15582318;15802564;15967462;16344560;16352453;16407954;16490376;16531234;16650785;16678796;16713295;16713569;16962094;17117180;17921333;18157088;18408010;18513529;18849585;19412328;19679566;19875404;20201937;20301486;20301582;20301725;20373002;20474083;20602615;21683594;21900206;21988832;24037902;24280220;9245996;9350988;9645487;9804419;9817758 8557 A2TDC0;J3KT40;O15273 ABBA01031860;AC087491;AJ000491;AJ010063;AJ011098;AK096328;AMYH02033385;BC012628;BC013330;BF670957;CH471152;DA899335;EF179184;NG_008892;NM_003673 AAH12628;AAH13330;ABM83738;ABM87057;ABN05287;BAG53261;CAA04129;CAA08987;CAA09479;EAW60586;EAW60587;NP_003664;O15273 Hs.77628 1657258;2107669;2163015 RH41770;RH66625;TCAP__5226 CMD1N;LGMD2G;T-cap;TELE 19 kDa sarcomeric protein;OTTHUMP00000164283;limb girdle muscular dystrophy 2G (autosomal recessive);telethonin;titin cap protein APPROVED protein-coding HGNC:11610 05133 601954;604488;607487 REVIEWED 1320461 TCEA1 transcription elongation factor A (SII), 1 ENCODES a protein that exhibits DNA binding (inferred); translation elongation factor activity (inferred); zinc ion binding (inferred); INVOLVED IN DNA repair (inferred); erythrocyte differentiation (inferred); gene expression (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; 5-azacytidine; bucladesine 8 8 8 q11.2 50869815 50924590 - 54879116 54935008 - 53966554 54022456 - 6480464 10454562;11313499;11591653;12477932;12676794;12761297;12878157;12914699;12943681;1378807;14506279;14702039;15302935;15351637;15489334;1559613;15635413;16344560;16630816;16648364;16736500;16916636;17081983;1708494;17643375;18029348;18562274;20178742;20729154;21070792;21127351;21139048;21596312;21729782;21832049;21890473;22505724;22863883;22939629;23000965;2471707;24816145;7626141;8112616;8206389;8566795;8798387;8812434;9305922;9765201;9765293 6917 B7Z4S1;B7Z4W0;E5RFI1;E5RIS7;E5RJ93;E5RK46;P23193 ABBA01041733;ABBA01041734;AC100821;AK026617;AK094425;AK290454;AK297729;AK297957;AMYH02017995;AMYH02017996;AMYH02017997;AMYH02017998;AMYH02017999;AU125645;AU280634;BC072460;BM477937;BQ016366;BT019995;BX538034;CH471068;CR542221;DA021678;DB091231;M81601;NM_006756;NM_201437;NR_109901;NR_109902;X57198;X62585;XM_006716467 AAA61138;AAH72460;AAV38798;BAF83143;BAH12657;BAH12696;CAA40484;CAA44470;CAG47017;EAW86739;EAW86740;EAW86741;NP_006747;NP_958845;P23193;XP_006716530 Hs.491745 1688999;2113236;2174026 D3S4495;D8S2054;RH66562 GTF2S;SII;TCEA;TF2S;TFIIS OTTHUMP00000226277;OTTHUMP00000226278;transcription elongation factor A protein 1;transcription elongation factor S-II protein 1;transcription elongation factor TFIIS.o protein-coding ENSG00000187735 HGNC:11612 03252 601425 VALIDATED 1344959 TCEA1P2 transcription elongation factor A (SII), 1 pseudogene 2 3 3 3 p22 37250598 37253220 + 37317028 37319650 + 37275537 37278152 + 1378807;15302935;15489334;17081983;1708494;17287340;17525332;7626141;8112616 399511 ABBA01024849;AC097359;AMYH02006558;NG_003186;X73534 CAA51940 2113236;2174026 D3S4495;D8S2054 pseudo HGNC:29891 INFERRED 1351284 TCEA1P1 transcription elongation factor A (SII), 1 pseudogene 1 9 9 9 q22.33 70344161 70347329 + 99829876 99833051 + 97067594 97070769 + 8112616 6918 ABBA01042939;AL445670;AMYH02021304;NG_001200;X75159 GTF2SP;TCEA1P APPROVED pseudo HGNC:11613 INFERRED 1351655 TCEA1P4 transcription elongation factor A (SII), 1 pseudogene 4 9 9 9 p21.1 32910856 32911697 - 32975721 32980439 - 32975723 32980441 - 100421350;399553 ABBA01065075;AL353717;AMYH02019413;NG_023798 1846773;2121424;2163437;5093580 A009S13;G32803;RH16252;SHGC-34030 pseudo HGNC:31091 INFERRED 1348268 TCEA1P3 transcription elongation factor A (SII), 1 pseudogene 3 9 9 9 p13.1 38411406 38412279 + 38478471 38479344 + 38478474 38479347 + 340501;399550 ABBA01050379;AL390794;AMYH02019511;NG_021646 pseudo HGNC:30569 INFERRED 731353 TCEA2 transcription elongation factor A (SII), 2 The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 59374545 59389785 + 62688439 62703700 + 64056900 64072347 + 1580863;6480464;8554872 11709559;11780052;12034815;12392551;12477932;12761297;12943681;14702039;15489334;15507123;1559613;16169070;16189514;16214896;17374514;17643375;18029348;18655026;21832049;21988832;22939629;8566795;9441762;9765201 6919 Q15560;Q5JRI7;Q5JRI8;Q6IB64;Q86VL0 ABBA01021439;AJ844626;AJ844627;AK027824;AL355803;AL590548;AMYH02037482;AW474513;BC014211;BC018896;BC031877;BC050623;BC050624;BC056407;BC098585;BI668232;BI756937;CB961240;CH471077;CR456940;D50495;NM_003195;NM_198723;U86749;XM_005260229;XM_006723873;XM_006723874 AAC39553;AAH18896;AAH50623;ABZ92433;BAA09089;BAG51383;CAG33221;CAH59746;EAW75168;EAW75169;EAW75170;NP_003186;NP_942016;Q15560;XP_005260286;XP_006723936;XP_006723937 Hs.505004;Hs.736326 1681440;5124686 RH78646;RH92396 TFIIS OTTHUMP00000031634;OTTHUMP00000031635;OTTHUMP00000031636;OTTHUMP00000031637;OTTHUMP00000031638;testis-specific S-II;transcription elongation factor A protein 2;transcription elongation factor S-II protein 2;transcription elongation factor TFIIS.1;transcription elongation factor TFIIS.l APPROVED protein-coding ENSG00000171703 HGNC:11614 16069 604784 REVIEWED 1322790 TCEA3 transcription elongation factor A (SII), 3 ENCODES a protein that exhibits DNA binding (inferred); nucleic acid binding (inferred); zinc ion binding (inferred); INVOLVED IN regulation of DNA-templated transcription, elongation (inferred); regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid 1 1 1 p36.12 22037208 22080967 - 23707555 23751269 - 23381062 23424776 - 1580863;6480464;8554872 12477932;15489334;1559613;19913121;20178742;20628086;21988832;23357533;9765201;9790746 6920 O75764;Q5DR83;S4R3M9;S4R419 AA873235;ABBA01059870;ABBA01059871;ABBA01059872;AJ223473;AK027024;AK290272;AK300707;AK310039;AL109936;AL357134;AMYH02000490;AMYH02000491;AY540752;BC041613;BE880226;BQ949868;CH471134;NM_003196;XM_005245980;XM_006710864;XM_006710865;XM_006710866 AAH41613;AAT44402;ABZ92434;BAF82961;BAG62386;CAA11393;EAW95048;EAW95049;NP_003187;O75764;XP_005246037;XP_006710927;XP_006710928;XP_006710929 Hs.446354 1680777;1691846;1757559;1780046;1798256;1854069;1855817;2161531 AL033979;G29597;G34867;RH91405;SHGC-145023;SHGC-154299;SHGC-74374;TCEA3_2530 TFIIS;TFIIS.H OTTHUMP00000003267;rhabdomyosarcoma antigen MU-RMS-40.22;transcription elongation factor A protein 3;transcription elongation factor S-II protein 3;transcription elongation factor TFIIS.h protein-coding ENSG00000204219 HGNC:11615 16036 604128 VALIDATED 1352968 TCEAL1 transcription elongation factor A (SII)-like 1 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] X X X q22.1 103322671 103324904 + 102883648 102885881 + 103628720 103630953 + 1580863;6480464 10051408;10353443;11248419;12477932;15489334;15772651;15773840;15807891;16054204;16221301;16331344;16341674;16364249;16542834;16697770;17353931;17848574;18640142;19475409;19615732;20211142;21139048;23602568;7592688;7971997;8206389 9338 Q15170 ABBA01032878;ABBA01032879;AF095906;AL049610;AMYH02040170;BC000809;BM784458;BU602495;BX092470;CB053221;CF454849;CH471190;M99701;NM_001006639;NM_001006640;NM_004780 AAA60149;AAD17840;AAH00809;ABM85299;ABW03709;EAW54702;NP_001006640;NP_001006641;NP_004771;Q15170 Hs.95243 1688811;1855079 RH80258;STS-M99701 SIIR;WEX9;p21;pp21 OTTHUMP00000024293;OTTHUMP00000024294;OTTHUMP00000024295;TCEA-like protein 1;nuclear phosphoprotein p21/SIIR;transcription elongation factor A protein-like 1;transcription elongation factor S-II protein-like 1 APPROVED protein-coding ENSG00000172465 HGNC:11616 02211 300237 REVIEWED 1342883 TCEAL2 transcription elongation factor A (SII)-like 2 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. [provided by RefSeq, Jul 2008] X X X q22.1-q22.3 101901221 101903245 + 101380660 101382684 + 102125688 102127712 + 1580863;6480464 10051408;12477932;15489334;15772651;16221301;19615732;19953087;21139048;21145461;21832049;21890473;22505724;23000965;23443559;23940030;8889548;9776767 140597 Q9H3H9 ABBA01045057;ABBA01045058;AF325115;AK312138;AL035214;AMYH02040072;BC093932;BC104764;BM699243;CD580311;CH471115;NG_012818;NM_080390;XM_006724621 AAH93932;AAI04765;AAL37355;ABZ92140;BAG35074;EAX02900;NP_525129;Q9H3H9;XP_006724684 Hs.401835 1697202;2109015;5493811 RH102092;UniSTS:495115;my048__6183.2 MY0876G05;WEX1;my048 OTTHUMP00000023704;TCEA-like protein 2;transcription elongation factor A protein-like 2;transcription elongation factor S-II protein-like 2 APPROVED protein-coding ENSG00000184905 HGNC:29818 06761 REVIEWED 6481208 TCEAL3-AS1 TCEAL3 antisense RNA 1 q22.2 11752456 100874119 AL049610;AV651489 APPROVED ncrna HGNC:41191 1346044 TCEAL3 transcription elongation factor A (SII)-like 3 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] X X X q22.2 103301848 103303869 + 102862834 102864855 + 103607906 103609927 + 737633;1580863;6480464 12477932 10051408;14702039;15489334;15772651;16221301;17081983;24816145 85012 Q969E4 ABBA01032883;ABBA01032884;ABBA01032885;AF163263;AK098494;AMYH02040169;BC007622;BC008703;CH471190;NM_001006933;NM_032926;Z73965 AAH07622;AAH08703;AAQ13592;ABZ92136;BAC05318;EAW54703;EAW54704;NP_001006934;NP_116315;Q969E4 Hs.311776 1651472;2114579;2141636;2165071 A005E02;RH17462;RH78743;SHGC-34973 MGC15737;WEX8 OTTHUMP00000023757;OTTHUMP00000023758;TCEA-like protein 3;transcription elongation factor A protein-like 3;transcription elongation factor S-II protein-like 3 APPROVED protein-coding ENSG00000196507 HGNC:28247 06636 REVIEWED 6480906 TCEAL4P1 transcription elongation factor A (SII)-like 4 pseudogene 1 13 13 37316010 37316563 - 36741873 36742426 - 100874432 ABBA01021355;AL136160;AMYH02027869;NG_032322 pseudo HGNC:39582 INFERRED 1351026 TCEAL4 transcription elongation factor A (SII)-like 4 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing occurs for this gene; however, the full-length nature of all transcript variants has not yet been described. [provided by RefSeq, Jul 2008] X X X q22.2 103279428 103281666 + 102831159 102842659 + 103576231 103587731 + 737633;6480464 12477932 10051408;12905813;14702039;15489334;15772651;16221301;17076909;17081983;17207965;18781797;19615732;21139048;21890473;21906983;21963094;21987572;22505724;22863883;23000965;23443559;24654937;8125298 79921 D6RCE9;D6RD44;D6RHZ1;D6RIH3;J3KQY4;Q96EI5 ABBA01032887;AF271783;AF314542;AI879651;AK024827;AK093021;AK225117;AL833640;AMYH02040169;AY885169;BC012296;BU536419;BX104938;CD700101;CH471190;NG_016315;NM_001006935;NM_001006937;NM_001300901;NM_024863;XM_005262192;XM_005262193;XM_005262194;Z73965 AAG44794;AAH12296;AAL40909;AAX82039;ADQ31616;BAB15023;EAW54705;EAW54706;NP_001006936;NP_001006938;NP_001287830;NP_079139;Q96EI5;XP_005262249;XP_005262250;XP_005262251 Hs.194329 1674169 STS-W88790 DKFZp686M0279;FLJ21174;NPD017;WEX7 OTTHUMP00000160534;OTTHUMP00000217589;OTTHUMP00000217590;OTTHUMP00000217591;OTTHUMP00000217592;OTTHUMP00000217593;OTTHUMP00000217594;OTTHUMP00000217595;OTTHUMP00000217596;OTTHUMP00000217597;TCEA-like protein 4;transcription elongation factor A protein-like 4;transcription elongation factor S-II protein-like 4 APPROVED protein-coding ENSG00000133142 HGNC:26121 06537 REVIEWED 1354272 TCEAL5 transcription elongation factor A (SII)-like 5 This gene, which is located on the X chromosome, encodes a protein which contains a BEX (brain expressed X-liked like family) domain. This domain is found in proteins encoded by the TCEAL elongation factor (transcription elongation factor A (SII)-like) gene family also located on the X chromosome. The coding region for this gene is located entirely in the terminal exon. [provided by RefSeq, Sep 2011] X X X q22.1 102967625 102970804 - 102528618 102531797 - 103273690 103276869 - 6480464;8554872 12477932;15772651;16221301;20195357;24816145;8889548 340543 Q5H9L2 ABBA01021032;AF086094;AMYH02040168;BC132922;BC132924;BM725918;CH471190;NG_016591;NM_001012979;Z68694 AAI32923;AAI32925;EAW54717;NP_001012997;Q5H9L2 Hs.403462 WEX4 OTTHUMP00000023730;TCEA-like protein 5;transcription elongation factor A protein-like 5;transcription elongation factor S-II protein-like 5 APPROVED protein-coding ENSG00000204065 HGNC:22282 18502 REVIEWED 1606134 TCEAL6 transcription elongation factor A (SII)-like 6 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; cadmium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) X X X q22.1 101915493 101917948 - 101394933 101397388 - 102139961 102142416 - 6480464 12477932;15489334;15772651;16221301;22379092;24816145 158931 Q6IPX3 ABBA01045059;AMYH02040072;BC071675;CH471115;DN993514;NM_001006938;Z70719 AAH71675;EAX02901;EAX02902;NP_001006939;Q6IPX3 Hs.447815 1701822;7184764 DXS101 Tceal3;WEX2 OTTHUMP00000023706;TCEA-like protein 6;transcription elongation factor A (SII)-like 3;transcription elongation factor A protein-like 6;transcription elongation factor S-II protein-like 6 protein-coding HGNC:24553 17311 VALIDATED 1347340 TCEAL7 transcription elongation factor A (SII)-like 7 INVOLVED IN negative regulation of NF-kappaB transcription factor activity; negative regulation of transcription, DNA-templated; FOUND IN nucleus; INTERACTS WITH arsenite(3-); clorgyline; cytarabine X X X q22.1 103024116 103026253 + 102585114 102587251 + 103330186 103332323 + 737633;6480464 12477932 14702039;15489334;15772651;15870691;16221301;16344560;18806825;19419758;19966855;20454512;21900206;23372750 56849 Q9BRU2;Q9NQ44 ABBA01021039;AJ297363;AK094400;AMYH02040168;BC005988;BC016786;CH471190;DA142141;DB481725;NM_152278;Z92846 AAH05988;AAH16786;ABZ92139;ABZ92152;BAG52864;CAB95948;EAW54714;NP_689491;Q9BRU2 Hs.21861 1664061 RH12449 MGC23947;MPMGp800C04260Q003;WEX5 OTTHUMP00000023737;OTTHUMP00000023738;TCEA-like protein 7;transcription elongation factor A protein-like 7;transcription elongation factor S-II protein-like 7 protein-coding ENSG00000182916 HGNC:28336 06641 300771 VALIDATED 1352350 TCEAL8 transcription elongation factor A (SII)-like 8 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] X X X q22.1 102946932 102949130 - 102507923 102510121 - 103252995 103255193 - 737633;1580863;6480464 12477932 10051408;15489334;15772651;16221301;18624398;19322201;21832049;21906983 90843 Q5H9L1;Q8IYN2 ABBA01021029;ABBA01021030;ABBA01021031;ABBA01021032;AK026349;AL833632;AMYH02040168;BC035573;BU932815;CH471190;NG_016256;NM_001006684;NM_153333;Z68694 AAH35573;ABZ92134;EAW54718;NP_001006685;NP_699164;Q8IYN2 Hs.389734 1652091;1657011;2155251 A002R41;RH35755;STS-R85811 MGC45400;WEX3 OTTHUMP00000023731;OTTHUMP00000023732;TCEA-like protein 8;transcription elongation factor A protein-like 8;transcription elongation factor S-II protein-like 8 APPROVED protein-coding ENSG00000180964 HGNC:28683 06656 REVIEWED 7241986 TCEAL8P1 transcription elongation factor A (SII)-like 8 pseudogene 1 101059982 ABBA01030868;AC104440;AMYH01013256 pseudo HGNC:45245 MODEL 1606976 TCEANC2 transcription elongation factor A (SII) N-terminal and central domain containing 2 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; copper(2+) sulfate 1 1 1 p32.3 52806939 52853081 + 54519274 54565416 + 54053601 54099743 + 6480464;8554872 12477932;14702039;20379614;21832049 127428 Q96MN5;X6R7X0 ABBA01074728;ABBA01074729;AK056674;AK096488;AL049253;AL353898;AMYH02001045;BC035374;CH471059;KF495952;NM_153035 AAH35374;ABZ92131;BAB71250;BAC04803;EAX06703;NP_694580;Q96MN5 Hs.558618 C1orf83;FLJ32112;FLJ39169;RP4-758J24.3 OTTHUMP00000010104;OTTHUMP00000010128;hypothetical protein LOC127428;transcription elongation factor A N-terminal and central domain-containing protein 2 APPROVED protein-coding ENSG00000116205 HGNC:26494 08722 PROVISIONAL 2303433 TCEANC transcription elongation factor A (SII) N-terminal and central domain containing ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of DNA-templated transcription, elongation (inferred); regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; 3,4-methylenedioxymethamphetamine (ortholog); valproic acid (ortholog) X X X p22.2 17788368 17799301 + 13671252 13683528 + 13653133 13665409 + 6480464 12477932;14702039;15489334;16189514;16344560;16713569;19953087;20098747;20211142;21832049;23940030;24250222 170082 H0YF26;Q8N8B7 ABBA01071127;AC079383;AK097032;AK291271;AK294465;AK315599;AMYH02038896;BC020095;BC044219;CH471074;DA926246;DC344354;NM_001297563;NM_001297564;NM_152634;XM_005274454;XM_005274455 BAC04930;BAF83960;BAG37970;BAG57696;EAW98823;NP_001284492;NP_001284493;NP_689847;Q8N8B7;XP_005274511;XP_005274512 Hs.222855;Hs.737398 2115518;2220276;5020635;5037552 AB047619;D7S3207;D8S2279;RH45511 MGC17403 TFIIS central domain-containing protein 1;TFS2-M domain-containing protein 1;transcription elongation factor A N-terminal and central domain-containing protein protein-coding HGNC:28277 VALIDATED 733902 TCEB1 transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011] 8 8 8 q21.11 70856322 70882037 - 74857373 74884522 - 73945138 73972287 - 1580863;6480464;6483358;6484113;6907045 19364912 10051596;10205047;10224134;10421634;10449727;10535940;10587522;10692460;10823831;10851083;10973499;11006129;11384984;11739384;11994304;12004003;12004076;12050673;12052866;12149480;12477932;12559969;12604794;12676794;12783885;12943681;14564014;14636579;14960280;15060148;15280393;15489334;15574592;15574593;15590664;15601820;15611064;15781449;15899873;15935760;15965468;15966899;16189514;16303161;16341674;16344560;16503656;16530799;16675548;16961462;17069461;17110338;17135358;17148442;17183367;17244529;17285170;17304241;17351129;17353931;17558023;17786314;17869271;17898068;17922844;17965024;17986458;18187417;18305400;18323857;18499212;18508766;18541215;18562529;18775313;18789977;18844214;19008196;19030229;19038776;19109396;19159283;19218568;19295130;19300455;19327355;19339690;19385048;19584355;19615732;19695223;19706539;19855191;19940151;20086098;20096141;20174454;20211142;20300531;20302626;20360068;20379614;20450485;20463065;20532212;20639865;20728451;20732625;20871634;21030588;21119685;21130766;21139048;21145461;21199876;21386990;21658608;21685897;21726808;21822215;21890473;21906983;21942715;21963094;21980433;21988832;22001063;22084247;22174154;22190034;22190036;22190037;22234250;22379088;22479405;22505724;22537386;22787435;22863883;22912744;22939629;22990118;23083832;23098073;23333304;23378232;23405965;23460923;23621690;23806657;23837592;23988114;23990909;24012004;24044920;24076655;24225024;24337577;24367103;24390320;24390335;24402281;24469044;24583282;24778252;7660122;7660129;7660130;7821821;8244996;8674032;8889548;9122164;9447969;9751722 6921 E5RHG8;Q15369;R4GMY8 ABBA01041976;AC022868;AK057889;AL832244;AMYH02018231;BC013809;BC093065;BC100028;BC100283;BG428202;BG703267;BG767430;BM720777;BM821650;BX649138;CF129635;CH471068;CX166168;CX166843;DA537957;L34587;NM_001204857;NM_001204858;NM_001204859;NM_001204860;NM_001204861;NM_001204862;NM_001204863;NM_001204864;NM_005648;XM_005251290 AAA67650;AAH13809;AAH93065;AAI00029;AAI00284;ABM85123;ABW03698;EAW87015;EAW87016;EAW87017;EAW87018;EAW87019;EAW87020;EAW87021;NP_001191786;NP_001191787;NP_001191788;NP_001191789;NP_001191790;NP_001191791;NP_001191792;NP_001191793;NP_005639;Q15369;XP_005251347 Hs.533437;Hs.554594;Hs.731928 2143491;5016851 RH16001;RH80031 SIII;SIII p15;eloC OTTHUMP00000226846;OTTHUMP00000226847;OTTHUMP00000226848;OTTHUMP00000226849;OTTHUMP00000226850;OTTHUMP00000226851;OTTHUMP00000226852;OTTHUMP00000227658;RNA polymerase II transcription factor SIII subunit C;elongation factor siii p15 subunit;elongin 15 kDa subunit;elongin-C;transcription elongation factor B polypeptide 1;transcription elongation factor B, polypeptide 1 APPROVED protein-coding ENSG00000154582 HGNC:11617 02875 600788 REVIEWED 3051003 TCEB1P10 transcription elongation factor B (SIII), polypeptide 1 pseudogene 10 Y Y Y 10226477 10226803 - 26153058 26153384 - 24006911 24007237 - 100462871 ABBA01000443;AC068601;NG_021925 pseudo HGNC:38146 INFERRED 3051002 TCEB1P11 transcription elongation factor B (SIII), polypeptide 1 pseudogene 11 Y Y Y 8818164 8818495 + 28137388 28137719 - 25991241 25991572 - 100462872 AC007965;NG_021932 pseudo HGNC:38147 INFERRED 4109289 TCEB1P12 transcription elongation factor B (SIII), polypeptide 1 pseudogene 12 Y Y 20230369 20230696 + 18068483 18068810 + 9847074 100462874 AC095380;NG_004636 pseudo HGNC:38148 VALIDATED 4109288 TCEB1P13 transcription elongation factor B (SIII), polypeptide 1 pseudogene 13 Y Y 20602683 20603011 + 18440797 18441125 + 9847074 100462875 AC069130;NG_004636 pseudo HGNC:38149 VALIDATED 4109287 TCEB1P14 transcription elongation factor B (SIII), polypeptide 1 pseudogene 14 Y Y 20949551 20950212 + 18787665 18788326 + 9847074 100462876 AC007379;NG_004636 pseudo ENSG00000228193 HGNC:38150 VALIDATED 4108630 TCEB1P15 transcription elongation factor B (SIII), polypeptide 1 pseudogene 15 Y Y 24214967 24215298 + 22068820 22069151 + 100462877 AC007359;NG_004755 pseudo HGNC:38151 VALIDATED 4108628 TCEB1P16 transcription elongation factor B (SIII), polypeptide 1 pseudogene 16 Y Y 25824651 25824982 + 23678504 23678835 + 100462878 AC016752;NG_004755 pseudo HGNC:38152 VALIDATED 4108627 TCEB1P17 transcription elongation factor B (SIII), polypeptide 1 pseudogene 17 Y Y 28007090 28007415 + 25860943 25861268 + 100462879 AC017005;NG_004755 pseudo HGNC:38153 VALIDATED 2974690 TCEB1P18 transcription elongation factor B (SIII), polypeptide 1 pseudogene 18 1 1 1 p31.3 67131246 67131586 - 68841005 68841345 - 68375322 68375662 - 100130626 ABBA01074506;AL139413;AMYH02001219;NG_022971 1763473 SHGC-147176 pseudo HGNC:38154 INFERRED 3051000 TCEB1P19 transcription elongation factor B (SIII), polypeptide 1 pseudogene 19 1 1 1 87540586 87540889 + 89294796 89295099 + 88829113 88829416 + 100462880 ABBA01045594;AL136381;AMYH02001429;NG_022789 pseudo HGNC:38155 INFERRED 1343367 TCEB1P2 transcription elongation factor B (SIII), polypeptide 1 pseudogene 2 15 15 15 q15.1 18617146 18617845 + 41849175 41849874 + 41556977 41557676 + 283747 ABBA01038401;AC016134;AMYH02030272;NG_003219;NG_033013 pseudo HGNC:17762 INFERRED 3077614 TCEB1P20 transcription elongation factor B (SIII), polypeptide 1 pseudogene 20 1 1 1 p13.2-p13.1 114273367 114328985 + 116099366 116100090 + 115556745 115557469 + 100287778 ABBA01068474;AL592436;AMYH02001789;NG_028102 1754197 SHGC-132232 pseudo HGNC:38156 INFERRED 3051008 TCEB1P21 transcription elongation factor B (SIII), polypeptide 1 pseudogene 21 2 2 2 71033513 71034131 - 71182830 71183448 - 70955700 70956318 - 100462866 ABBA01075545;AC007040;AMYH02004047;NG_021506 pseudo HGNC:38157 INFERRED 3129500 TCEB1P22 transcription elongation factor B (SIII), polypeptide 1 pseudogene 22 11 11 11 q23.3 117650058 117650406 - 120490631 120490979 - 120619922 120620270 - 100287579 ABBA01039651;AMYH02025680;AP002348;NG_022978 pseudo ENSG00000255006 HGNC:38158 INFERRED 3050999 TCEB1P23 transcription elongation factor B (SIII), polypeptide 1 pseudogene 23 13 13 13 59960750 59961080 + 79062317 79062647 + 78488182 78488512 + 100462881 ABBA01021678;AL445209;AMYH02028326;NG_021970 pseudo HGNC:38159 INFERRED 3102873 TCEB1P24 transcription elongation factor B (SIII), polypeptide 1 pseudogene 24 X X;Y X;Y q28 and Yq12 155365145 155365478 - 155208657 155208990 - 57165512 57165845 - 100287692 ABBA01028635;AJ271736;AMYH02040903;NG_023013 TCEB1P25 pseudo HGNC:38160 INFERRED 2837481 TCEB1P25 transcription elongation factor B (SIII), polypeptide 1 pseudogene 25 Y q12 59311663 59311996 - 100288710 AJ271736 pseudo HGNC:38525 6907345 TCEB1P26 transcription elongation factor B (SIII), polypeptide 1 pseudogene 26 Y Y q11.222 20340818 20341146 - 18178932 18179260 - 9847074 101059905 ABBA01007793;AC024183;NG_033276 pseudo HGNC:38731 INFERRED 7371203 TCEB1P28 transcription elongation factor B (SIII), polypeptide 1 pseudogene 28 19 19 19 p13.3 2475223 2475867 + 2537733 2539307 + 2537735 2539309 + 100287483 ABBA01002745;ABBA01002746;AC005756;AC104537;AMYH02035203;NG_012739 AAC62260 pseudo HGNC:49169 INFERRED 7371911 TCEB1P29 transcription elongation factor B (SIII), polypeptide 1 pseudogene 29 19 19 19 p13.2 9188290 9189251 - 9292845 9293806 - 9182169 9183130 - 100132973 ABBA01029984;AC011464;AMYH02035460;NG_021739 pseudo HGNC:49170 INFERRED 1626552 TCEB1P3 transcription elongation factor B (SIII), polypeptide 1 pseudogene 3 10 10 10 p14 10144679 10145302 + 10216117 10216740 + 10174154 10174777 + 21145461;23251661;23443559 644540 ABBA01034707;AL136318;AMYH02022109;NG_009727 1745969 RH124339 dJ254P11.1 APPROVED pseudo HGNC:29457 INFERRED 7368896 TCEB1P31 transcription elongation factor B (SIII), polypeptide 1 pseudogene 31 12 12 12 26755908 26756544 - 21600520 21601156 - 21447586 21448222 - 100422582 ABBA01067968;AC006559;AMYH02026167;NG_023990 pseudo HGNC:49172 INFERRED 7375245 TCEB1P33 transcription elongation factor B (SIII), polypeptide 1 pseudogene 33 4 4 39934122 39935211 + 39932502 39933591 + 101928827 AC113150;AMYH02009064 pseudo HGNC:49174 MODEL 3051001 TCEB1P4 transcription elongation factor B (SIII), polypeptide 1 pseudogene 4 Y Y Y 161242 161563 - 9068535 9068856 + 9230926 9231247 + 100462873 AC009952;NG_021935 pseudo HGNC:38141 INFERRED 2902393 TCEB1P5 transcription elongation factor B (SIII), polypeptide 1 pseudogene 5 Y Y Y q11.223 8472958 8473294 - 23793565 23793901 - 21631679 21632015 - 100288493 ABBA01049553;AC021107;NG_023022 pseudo HGNC:38140 INFERRED 3051007 TCEB1P6 transcription elongation factor B (SIII), polypeptide 1 pseudogene 6 Y Y 19949081 19949408 - 17837201 17837528 - 100462867 AC095381;NG_004636 pseudo HGNC:38142 VALIDATED 3051006 TCEB1P7 transcription elongation factor B (SIII), polypeptide 1 pseudogene 7 Y Y 20694212 20694542 - 18532326 18532656 - 100462868 AC022486;NG_004636 pseudo HGNC:38143 VALIDATED 3051005 TCEB1P8 transcription elongation factor B (SIII), polypeptide 1 pseudogene 8 Y Y Y 8818164 8818495 + 24663389 24663720 - 22517242 22517573 - 100462869 ABBA01018411;AC008175;NG_021922 pseudo HGNC:38144 INFERRED 3051004 TCEB1P9 transcription elongation factor B (SIII), polypeptide 1 pseudogene 9 Y Y Y 10028421 10028746 - 25954968 25955293 - 23808821 23809146 - 100462870 ABBA01008100;AC073649;NG_021924 pseudo HGNC:38145 INFERRED 5129411 TCEB2P1 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 1 13 13 13 q12 7004157 7004593 - 25939901 25940337 - 25365763 25366199 - 246717 ABBA01007902;AL138958;AMYH02027721;NG_001581 2155705 RH44069 pseudo HGNC:39719 INFERRED 734149 TCEB2 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) This gene encodes the protein elongin B, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. Pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, Aug 2008] 16 16 16 p12.3 3020982 3026862 - 2821415 2827297 - 2771414 2777296 - 6480464;6483358;6484113;6907045;8554872 19364912 10051596;10205047;10224134;10449727;10535940;10587522;10692460;10823831;10973499;11006129;11384984;11739384;11994304;12004076;12048197;12050673;12052866;12149480;12477932;12559969;12604794;12676794;12938929;12943681;14564014;14636579;14960280;15060148;15489334;15574592;15574593;15590664;15590694;15601820;15616553;15781449;15935760;15965468;15966899;16007195;16189514;16303161;16503656;16530799;16675548;16961462;17069461;17110338;17135358;17213182;17244529;17285170;17304241;17339318;17351129;17353931;17611602;17636018;17690245;17786314;17869271;17898068;17922844;17986458;18173839;18187417;18247557;18323857;18508766;18541215;18562529;18775313;18789977;19008196;19030229;19038776;19159283;19218568;19295130;19300455;19327355;19385048;19615732;19622774;19706539;19940151;20049704;20096141;20174454;20211142;20302626;20450485;20463065;20532212;20728451;20871634;21030588;21119685;21130766;21139048;21145461;21386990;21447700;21822215;21890473;21906983;21942715;21963094;21980433;21987572;22174154;22190034;22190036;22190037;22234250;22284679;22286099;22479405;22863883;22912744;22939629;23098073;23275444;23333304;23401859;23438482;23455922;23460923;23621690;23806657;23837592;23988114;23990909;24012004;24044920;24076655;24225024;24250222;24337577;24390320;24390335;24402281;24422669;24469044;24816145;7638163;7660122;7660129;7660130;8244996;8889548;9122164;9751722;9765201 6923 B8ZZU8;I3L0M9;Q15370 ABBA01026713;ABBA01026714;AC004493;AC092117;AC093517;AI191983;AMYH02031273;AMYH02031274;BC013306;BC065000;BF967495;BG329435;BM553320;BM700019;BM921799;BU533433;CH471112;DT217333;L42856;NM_007108;NM_207013;XM_006720937 AAA75522;AAC08452;AAH13306;AAH65000;ABZ92541;EAW85472;EAW85473;EAW85474;EAW85475;EAW85476;NP_009039;NP_996896;Q15370;XP_006721000 Hs.172772 1678479;1717449;1736552;1738753;1773213;1846674;2132171;2155705;2185534;2218084 D16S2549E;D16S2844;D9S2087;RH122227;RH44069;RH92618;SHGC-32846;SHGC-61065;SHGC-61169;TCEB2_3482 ELOB;SIII OTTHUMP00000205114;OTTHUMP00000205115;OTTHUMP00000205116;RNA polymerase II transcription factor SIII p18 subunit;RNA polymerase II transcription factor SIII subunit B;SIII p18;elongin 18 kDa subunit;elongin, 18-kD subunit;elongin-B;transcription elongation factor B polypeptide 2;transcription elongation factor b (siii) polypeptide 2 (18kd, elongin b) APPROVED protein-coding ENSG00000103363 HGNC:11619 02874 600787 REVIEWED 5129358 TCEB2P2 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 2 11 11 11 q24.3 127070865 127071327 - 129902710 129903172 - 130032815 130033277 - 15297736 253665 ABBA01023026;AMYH02025782;AP003041;CH471065;NG_005176 EAW67767 pseudo HGNC:39720 INFERRED 5684145 TCEB2P3 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 3 2 2 p16.3 49007741 49008036 + 48780602 48780897 + 100856810 ABBA01075199;AC091788;AMYH02003786;NG_031883 pseudo HGNC:39721 INFERRED 6480901 TCEB2P4 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 4 10 10 34777507 34777806 - 34488579 34488878 - 100874519 ABBA01033358;AL360233;AMYH02022605;NG_032352 pseudo HGNC:39722 INFERRED 8656583 TCEB3-AS1 TCEB3 antisense RNA 1 1 1 24086872 24104795 - 23760382 23778297 - 100506963 ABBA01059886;AL031295;AL049675;AMYH02000504;AMYH02000505;AMYH02000506;AMYH02000507;AMYH02000508;BG429664;HG491779;HG491780;NR_038280 Hs.592549 ncrna ENSG00000236810 HGNC:50582 VALIDATED 736026 TCEB3 transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008] 1 1 1 p36.1 22399409 22418102 + 24069856 24088549 + 23743366 23762059 + 730113;1580863;6480464 7660129 10051596;10449727;10587522;10692460;11384984;11810028;11994304;12048197;12076535;12477932;12676794;12943681;14702039;15207703;15302935;15489334;15635413;16189514;16498413;16710414;16957778;17081983;17148442;17690245;18029348;18187417;18187620;18976975;19060904;19730683;19766566;21139048;21729782;22939629;22990118;23828199;24816145;7660122;8586449;8619474;8654961;9110174;9305922;9806752 6924 Q14241 ABBA01059886;AF070554;AF116729;AK096079;AK310229;AK313079;AL031295;AMYH02000503;AMYH02000504;AW451236;BC002883;BC019949;BC020448;CH471134;DB461774;L47345;NM_003198 AAA75492;AAH02883;AAO15305;ABM83952;ABM87269;BAG35905;EAW95070;EAW95071;NP_003189;Q14241 Hs.15535 1649070;1651459;1681171;1757473;1778446;2129255;2149375;2175774;2184566;5015959;5017227;5024039;5037552 D10S2448;D16S325;D8S2279;G38154;RH48114;RH65778;RH69057;RH93681;SGC35583;SHGC-144848;SHGC-33880;SHGC-74400;SHGC-74402 EloA;FLJ38760;FLJ42849;SIII;SIII p110;TCEB3A OTTHUMP00000002990;RNA polymerase II transcription factor SIII subunit A1;elongin 110 kDa subunit;elongin-A;transcription elongation factor B alpha subunit;transcription elongation factor B polypeptide 3;transcription elongation factor b (siii), polypeptide 3 APPROVED protein-coding ENSG00000011007 HGNC:11620 02873 600786 REVIEWED 1349544 TCEB3B transcription elongation factor B polypeptide 3B (elongin A2) This gene encodes the transcriptionally active subunit of the SIII (or elongin) transcription elongation factor complex, which also includes two regulatory subunits, elongins B and C. This complex acts to increase the rate of RNA chain elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites along the DNA template. Whereas a related protein with similar function, elongin A, is ubiquitously expressed, the encoded protein is specifically expressed in the testis, suggesting it may have a role in spermatogenesis. [provided by RefSeq, Jul 2008] 18 18 18 q21.1 41409470 41412515 - 44558943 44561988 - 47032572 47035617 - 730113;730012;1580863;6480464;8554872 7660129;8244996 10692460;12477932;15489334;16189514;16713569;22094256;24163370 51224 Q3SY90;Q8IYF1 AB030834;ABBA01018616;AC012254;AC245453;AK314984;BC036022;BC103911;CH471096;HC007324;HC044685;NM_016427 AAH36022;AAI03912;ADZ15479;BAA90665;BAG37483;CBH19467;CBH30672;EAW62900;NP_057511;Q8IYF1 Hs.375035 ELOA2;HsT832;MGC119351;TCEB3L OTTHUMP00000163486;RNA polymerase II transcription factor SIII subunit A2;elongin-A2;transcription elongation factor (SIII) elongin A2 elongin A2 APPROVED protein-coding ENSG00000206181 HGNC:30771 18169 609522 REVIEWED 1346594 TCEB3C transcription elongation factor B polypeptide 3C (elongin A3) The SIII (or elongin) transcription elongation factor complex stimulates the rate of transcription elongation by RNA polymerase II by suppressing the transient pausing of the polymerase at many sites along the DNA template. This complex is a heterotrimer, composed of the transcriptionally active subunit A, A2 or A3 (or elongin A, A2 or A3) and two regulatory subunits, B and C (or elongin B and C). This gene encodes subunit A3. A3 and A are ubiquitously expressed, whereas A2 is specifically expressed in the testis. [provided by RefSeq, Mar 2010] 18 18 18 q21.1 41350189 41350739 - 44554573 44556449 - 47028202 47030078 - 1580863;6480464;8554872 11932239;11994304;12477932;15717329;8889548 162699 Q8NG57 AB076840;ABBA01018616;AC012254;AC245453;BQ185879;NG_016749;NM_145653 AAI72326;ABZ92135;BAC01113;NP_663628;Q8NG57 Hs.515381;Hs.729823 2126975 D18S1247 HsT829;TCEB3L2;eloA3 OTTHUMP00000163488;RNA polymerase II transcription factor SIII subunit A3;elongin-A3 APPROVED protein-coding ENSG00000183791 HGNC:24617 15479 REVIEWED 1626264 TCEB3CL2 transcription elongation factor B polypeptide 3C-like 2 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred) 18 18 q21.1 44542731 44544607 - 46962768 46964644 - 16177791 100506888 A6NLF2 AC090373;AC245453;NM_001242907 A6NLF2;NP_001229836 Hs.729823 RNA polymerase II transcription factor SIII subunit A3-like-2;eloA3-like-2;elongin-A3-like-2;transcription elongation factor B polypeptide 3C-like-2 protein-coding ENSG00000274744 HGNC:33511 VALIDATED 1343292 TCEB3CL transcription elongation factor B polypeptide 3C-like ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred); INTERACTS WITH cadmium dichloride 18 18 18 q21.1 41350189 41350739 - 44548658 44550298 - 46968695 46969912 - 6480464 12477932 728929 Q3SY89 AC012254;AC090373;AC245440;BC103912;BC103913;NM_001100817 AAI03913;AAI03914;NP_001094287;Q3SY89 Hs.745535 HsT828;MGC119353 RNA polymerase II transcription factor SIII subunit A3-like-1;eloA3-like-1;elongin-A3-like-1;transcription elongation factor B polypeptide 3C-like-1 protein-coding HGNC:31007 PROVISIONAL 1346689 TCERG1L transcription elongation regulator 1-like ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; arsenite(3-) 10 10 10 q26.3 126561440 126778379 - 132890655 133109984 - 131092392 131311721 - 6480464;8554872 12477932;14702039;16385451;20379614;20732627;21490949;21890473;22412388;22791750;22832960;8889548 256536 Q5VWI1 ABBA01012980;ABBA01012981;ABBA01012982;AC067746;AK096269;AL390203;AMYH02024050;BC042951;BC093639;BC101535;BM689725;CH471066;NM_174937 AAH42951;AAH93639;AAI01536;EAW49150;NP_777597;Q5VWI1 Hs.126575 1680717;1698644;1707646;1753531;1763499;1771123;5022578 D10S1155;D1S1423;RH102879;RH76735;SHGC-107424;SHGC-147201;SHGC-81985 MGC126584 5730476P14Rik;OTTHUMP00000035700;transcription elongation regulator 1-like protein protein-coding ENSG00000176769 HGNC:23533 18170 VALIDATED 1323365 TCERG1 transcription elongation regulator 1 This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq, Jul 2008] 5 5 5 q31 141908056 141972523 + 145826873 145891071 + 146447310 146511508 + 1580863;6480464;6907045;8554872 10373521;10908677;11003711;11172033;11604498;12226669;12376575;12477932;12821179;14499622;14672652;15296517;15383276;15456888;15485897;15561718;15635413;16055720;16344560;16644732;16782886;17018562;17218272;17332742;18187414;19471022;19660470;19715701;19738201;19845895;19966273;20195357;20215116;20467438;20936779;21139048;21252943;21503969;21693764;21890473;21906983;22158966;22453921;22623428;22939629;23000965;23436654;23443559;24165037;24332808;24457600;24816145;9315662;9731529 10915 G3V220;O14776 AB209910;ABBA01026338;ABBA01026339;AC011375;AF017789;AK074511;AK126455;AK304319;AMYH02012411;AMYH02012412;AMYH02012413;AU125627;BC006109;BC014151;BC015864;BC035150;BC062351;BC111727;CH471062;DA034307;DA737038;NM_001040006;NM_006706;XM_005268365;XM_005268366;XM_005268367;XM_006714754;XR_245850 AAB80727;AAI11728;BAD93147;BAH14157;EAW61840;EAW61841;EAW61842;NP_001035095;NP_006697;O14776;XP_005268422;XP_005268423;XP_005268424;XP_006714817 Hs.443465 1700832;1730337;1785378;1791288;1793824;1853664;2110775;2170851;2170853 A006J33;D5S454E;G20878;MARC_9990-9991:997195997:1;PMC29339P1;RH104041;SHGC-141489;STS-N35493;TCERG1_3536 CA150;MGC133200;TAF2S;Urn1 OTTHUMP00000160091;OTTHUMP00000223941;OTTHUMP00000241350;TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD;TATA box-binding protein-associated factor 2S;co-activator of 150 kDa;transcription factor CA150 APPROVED protein-coding ENSG00000113649 HGNC:15630 10393 605409 REVIEWED 7817407 TCERG1L-AS1 TCERG1L antisense RNA 1 10 q26.3 132893481 132894040 + 101927489 AL390203;NR_120623;XR_242764;XR_252836 Hs.659317;Hs.732808 ncrna HGNC:49532 VALIDATED 1318246 TCF15 transcription factor 15 (basic helix-loop-helix) The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq, Jul 2008] 20 20 20 p13 679462 685735 - 584637 590910 - 603993 610266 - 1580863;6480464 11780052;12477932;19419955;22145905;8041747;8825648 6939 A4LBB6;Q12870;Q6NVX3 ABBA01053753;AI218364;AL133231;AMYH02036557;AMYH02036558;AW290965;BC067836;CH471133;EF506886;NM_004609;U08336 AAA19969;AAH67836;AAI60039;ABO43039;EAX10664;NP_004600;Q12870 Hs.437 2145662;2153517;2218086 STS-U08336;TCF15_2630;WI-7360 EC2;TCF-15;bHLHa40 OTTHUMP00000029932;PARAXIS;basic helix-loop-helix transcription factor 15;class A basic helix-loop-helix protein 40;protein bHLH-EC2;transcription factor 15 APPROVED protein-coding HGNC:11627 03003 601010 REVIEWED 1345711 TCF19 transcription factor 19 This gene encodes a protein that belongs to the Plant Homeo Domain finger family of transcription factors. The encoded protein is thought to function during the G1/S transition in the cell cycle. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 6 6 6 p21.3 32726529 32732214 + 31126303 31134183 + 31158526 31167161 + 1304482;6480464;8554872 1868030 10485890;10777095;12477932;14574404;15342556;15489334;16344560;16702430;19851445;20211142;20587610;21076979;21832049;21900206;21912425;23760081;23860123;23955597;24250222;8595903 6941 D2IYK5;H0YFN0;Q9Y242 AB029516;AB029517;AB029518;AB029519;AB088113;AB103619;AB202105;ABBA01038069;AK315258;AL662833;AL662844;AL773544;AMYH02013445;BA000025;BC002493;BC033086;BC044632;BP365938;BT007247;BX088580;BX647174;CH471081;CR388229;CR753819;CR759815;CR847794;DA115077;DA116232;DA485961;DB260358;NM_001077511;NM_007109;S53374;U25826;XM_005249334;XM_005272867;XM_005275018;XM_005275020;XM_005275155;XM_005275157;XM_005275287;XM_005275289;XM_005275449;XM_005275450;XM_005275588;XM_006715170;XM_006715171;XM_006725498;XM_006725711;XM_006725712;XM_006725826;XM_006725920;XM_006726013;XM_006726014;XM_006726015;XM_006726107;XM_006726108;XM_006726109;XR_427835;XR_430857;XR_430937;XR_430973;XR_430998 AAB19475;AAB60363;AAH02493;AAH33086;AAH44632;AAP35911;ABM86768;ABW03827;BAA82324;BAA82325;BAA82326;BAA82327;BAB63312;BAC54945;BAE78629;BAF31280;EAX03363;EAX03364;EAX03365;NP_001070979;NP_009040;Q9Y242;XP_005249391;XP_005272924;XP_005275075;XP_005275077;XP_005275212;XP_005275214;XP_005275344;XP_005275346;XP_005275506;XP_005275507;XP_005275645;XP_006715233;XP_006715234;XP_006725561;XP_006725774;XP_006725775;XP_006725889;XP_006725983;XP_006726076;XP_006726077;XP_006726078;XP_006726170;XP_006726171;XP_006726172 Hs.584807 1662312;1722215;2115315;2125829;2137171;2166842 G60011;RH36318;RH46726;RH68003;SHGC-12693;STS-U25826 SC1;SC1(TCF19)-6;SC1(TCF19)-7;SC1-1;SCI(TCF19)-4;TCF-19 OTTHUMP00000029412;OTTHUMP00000029413;transcription factor SC1 protein-coding ENSG00000137310 HGNC:11629 15986 600912 VALIDATED 731955 TCF12 transcription factor 12 The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 15 15 15 q21 34101089 34470989 + 57210833 57580716 + 56918635 57288520 + 6480464;8699517;7240710;8554872 10768861;11076863;11230166;11256614;11755530;11802795;12477932;12566462;12826747;1312219;1446075;14516699;14702039;1501295;15333839;15351717;15489336;16169070;16344560;16381901;16407974;16582099;1720355;18456661;1886779;19043539;19321746;19322201;19460752;19497860;19730683;20211142;20379614;20483740;20603019;20798984;21139048;21150319;21771727;21828274;21988832;22130667;23000965;23022380;23354436;23386606;23667531;23812588;24722188;24816145;7842744;8163514;9050988;9242638;9446597;9584154;9618760 6938 B4DGI9;B4DZP2;B4E1W1;F5GY10;H0YML2;H0YNP8;H0YNQ5;H3BNF4;H3BRK2;Q99081 ABBA01038994;ABBA01038995;ABBA01038996;ABBA01038997;ABBA01038998;AC010999;AC016525;AC090511;AC090532;AF271609;AF271610;AF271611;AF271612;AF271613;AF271614;AF271615;AF271616;AF271617;AK022018;AK056961;AK294617;AK294991;AK302749;AK302923;AK303028;AK304007;AK308101;AK310708;AK311359;AK311709;AK312710;AL442094;AL831981;AMYH02030515;AMYH02030516;AMYH02030517;AMYH02030518;AMYH02030519;AU120213;BC050556;BC051769;BK001049;BU178185;BX537967;BX647333;CH471082;KF456057;M65209;M80627;M83233;NG_033851;NM_003205;NM_207036;NM_207037;NM_207038;NM_207040;U35052;XM_005254613;XM_006720658;XM_006720659 AAA58632;AAB62389;AAC37571;AAF82570;AAF82571;AAF82572;AAF82573;AAF82574;AAF82575;AAF82576;AAF82577;AAF82578;AAH50556;ABZ92191;ACE86985;ACE87674;BAG57800;BAG58057;BAG63962;BAG64087;BAG64154;BAG64923;CAD89914;CAD97931;CAL38450;CAL38596;DAA01129;EAW77511;EAW77512;EAW77513;EAW77514;EAW77515;EAW77516;EAW77517;NP_003196;NP_996919;NP_996920;NP_996921;NP_996923;Q99081;XP_005254670;XP_006720721;XP_006720722 Hs.511504 1336356;1338941;1339137;1655452;1659042;1685532;1691058;1722971;1728141;1729101;1738951;1740559;1755055;1764639;1853735;2108559;2113862;2140988;2152390;2163974;2179448;5014063;5015607;5015961;5016478;5020881;5022200;5022322;5022578;5022637;5022651;5023101;5024756;5037552;5093126 BP250005B10A4;D11S2560;D11S2766;D11S2921;D11S3014;D15S1008;D15S1127;D15S1169;D15S1390;D15S1477;D15S648;D15S854;D1S1423;D8S2279;G10500;G32536;G35309;G60583;G63493;GDB:434012;IGF1R;L17709;L18426;RH44604;RH45193;RH77800;RH80030;RH80646;RH92638;SHGC-141996;SHGC-148229;STS-M78304;TCF12_1072;Tcf12;WI-9143 CRS3;HEB;HTF4;HsT17266;TCF-12;bHLHb20 DNA-binding protein HTF4;E-box-binding protein;OTTHUMP00000162926;OTTHUMP00000162927;class B basic helix-loop-helix protein 20;helix-loop-helix transcription factor 4;transcription factor 12 (HTF4, helix-loop-helix transcription factors 4);transcription factor HTF-4 APPROVED protein-coding ENSG00000140262 HGNC:11623 02725 600480;615314 REVIEWED 69146 TCF20 transcription factor 20 (AR1) This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 22 q13.3 26362210 26417642 - 42556019 42664768 - 42160013 42270359 - 1580863;6480464;8554872 10591208;10849425;10995766;12477932;15302935;15592455;15831449;17081983;17913746;18591388;18701471;18854154;18984664;19082521;19471022;19602701;19720844;20161779;20211142;20490451;20509872;20564319;20816152;20936779;21693764;21890473;21935435;22081970;22586326;23000965;24205348;24416372;7760812;8663478;8889548;9179496;9730594 6942 A9JX13;I3L1M7;Q9UGU0;W5ZR30 AB006630;ABBA01055665;ABBA01055666;ABBA01055667;AL021878;AL031346;AMYH02038455;AMYH02038456;AY007595;BC013180;BU732753;BX247885;CH471095;KF851355;NG_028982;NM_005650;NM_181492;U19345;XM_005261722;XM_005261723;XM_005261724;XM_005276955;XM_005276956;XM_005276957;XM_006724313;XM_006724314;XM_006725781;XM_006725782;XM_006725783;Z83851 AAC36392;AAG28930;AAI56503;AAI72542;AHI43789;BAA22961;EAW60495;EAW60496;EAW60497;EAW60498;NP_005641;NP_852469;Q9UGU0;XP_005261779;XP_005261780;XP_005261781;XP_005277012;XP_005277013;XP_005277014;XP_006724376;XP_006724377;XP_006725844;XP_006725845;XP_006725846 Hs.475018 1645189;1753821;1850660;2167661;2184093 RH47217;RH66208;RH69793;SHGC-32817;SHGC-89209 AR1;KIAA0292;SPBP;TCF-20 OTTHUMP00000198708;OTTHUMP00000198709;OTTHUMP00000198710;SPRE-binding protein;nuclear factor SPBP;stromelysin 1 PDGF-responsive element-binding protein;stromelysin-1 PDGF-responsive element-binding protein;stromelysin-1 platelet-derived growth factor-responsive element binding protein;transcription factor 20 APPROVED protein-coding ENSG00000100207 HGNC:11631 04378 603107 REVIEWED 1606698 TCF23 transcription factor 23 The gene encodes a member of the basic helix-loop-helix transcription factor family. Studies of the orthologous gene in mouse have shown the encoded protein does not bind DNA but may negatively regulate other basic helix-loop-helix factors via the formation of a functionally inactive heterodimeric complex. [provided by RefSeq, May 2010] 2 2 2 p23.3 27218248 27222122 + 27371835 27376402 + 27148968 27153534 + 6480464 10652346;11701948;12477932;14516699 150921 Q7RTU1 ABBA01045195;AC013403;AMYH02003472;BC137191;BC137192;BC144525;BK000143;CH471053;NM_175769;XM_005264159 AAI37192;AAI37193;DAA00305;EAX00624;NP_786951;Q7RTU1;XP_005264216 Hs.591583 OUT;TCF-23;bHLHa24 OTTHUMP00000201039;class A basic helix-loop-helix protein 24;class II basic helix-loop-helix protein TCF23 APPROVED protein-coding HGNC:18602 18734 609635 REVIEWED 1351692 TCF21 transcription factor 21 TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q23.2 134951327 134957746 + 134210259 134216675 + 133889121 133895537 + 1580863;6480464 10572052;11591653;12477932;12493738;14574404;14702039;15231748;15489334;16169070;16415157;18978678;20211142;20634891;20945327;21378990;21771727;21988832;22751097;22862160;23313103;23529585;23874238;24262325;7553065;8889548;9507058;9545526;9733105 6943 O43680 ABBA01025867;AF035718;AF047419;AK091844;AL356109;AL550251;AMYH02014520;BC025697;BT019660;BU688835;CF128914;CH471051;CR450293;KF458288;NG_032121;NM_003206;NM_198392;W73859 AAC62514;AAC62532;AAH25697;AAV38466;ABW03324;ABW03673;CAG29289;EAW47999;EAW48000;EAW48001;NP_003197;NP_938206;O43680 Hs.78061 1798258;2145364;2167052;2167322 D6S2117;D6S2181;TCF21_2018;WI-11855 POD1;TCF-21;bHLHa23;pod-1 OTTHUMP00000017238;OTTHUMP00000017239;capsulin;class A basic helix-loop-helix protein 23;epicardin;podocyte-expressed 1 APPROVED protein-coding ENSG00000118526 HGNC:11632 04493 603306 REVIEWED 1602784 TCF24 transcription factor 24 ENCODES a protein that exhibits DNA binding (inferred); protein dimerization activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cadmium atom; valproic acid 8 8 8 q13.1 63852112 63868245 - 67858736 67874825 - 66946501 66962590 - 6480464 14516699;22354994 100129654 Q7RTU0 ABBA01041885;ABBA01041886;AC110998;AMYH02018118;AW028708;BK000144;CX788264;NM_001193502 DAA00306;NP_001180431;Q7RTU0 Hs.120040 1699762;2157624 D8S496;RH103487 TCF-24;bHLHa25 protein-coding ENSG00000261787 HGNC:32275 VALIDATED 1602223 TCF25 transcription factor 25 (basic helix-loop-helix) TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] 16 16 16 q24.3 75005365 75042884 + 89939994 89977795 + 89873586 89911387 + 6480464 10470851;12107429;12477932;14702039;15489334;16189514;16574069;18029348;18068114;18781797;19060904;19851296;20198315;21139048;21890473;21900206;21906983;21963094;22939624;23000965;24250222;24778252;24816145 22980 H3BMJ8;H3BPU1;H3BQ53;H3BR53;H3BRP4;H3BS87;H3BSP8;H3BSS3;H3BTU3;Q9BQ70;Q9H384 AB028972;ABBA01014123;ABBA01014124;ABBA01014125;AC092143;AC092385;AF130092;AF322111;AK024679;AK095785;AK301053;AMYH02032687;AMYH02032688;BC000959;BC009349;BC011884;BI913551;CH471184;DQ321703;NM_014972;XM_005256297;XM_005256298;XM_005256299;XM_005256300 AAG35518;AAG50276;AAH00959;AAH09349;AAH11884;ABC55265;ABZ92138;BAA83001;BAB14959;BAG62664;EAW66677;EAW66678;EAW66679;NP_055787;Q9BQ70;XP_005256354;XP_005256355;XP_005256356;XP_005256357 Hs.415342 1675507;5017939;5491920 MARC_52622-52623:1146767377:1;MARC_52624-52625:1146768114:1;RH80305 FKSG26;Hulp1;KIAA1049;NULP1;PRO2620;TCF-25;hKIAA1049 OTTHUMP00000176847;nuclear localized protein 1;transcription factor 25 APPROVED protein-coding ENSG00000141002 HGNC:29181 13830 612326 VALIDATED 8547997 TCF3P1 transcription factor 3 pseudogene 1 9 9 9 p24.1 5036482 5039042 + 5110861 5113421 + 5110861 5113421 + 100129107 ABBA01065417;AL161450;AMYH02019083;NG_009760;NG_009904 pseudo HGNC:49742 INFERRED 1351290 TCF3 transcription factor 3 This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011] 19 19 19 p13.3 1544148 1586451 - 1609289 1652328 - 1609290 1652334 - 1580863;6480464 10086727;10471746;10497239;10502414;10545951;10567574;10636926;10749989;10757985;10768861;10775504;10781029;10866689;10903890;10915743;10924525;10958665;11237058;11238923;11509675;11591653;11784080;11802795;11812799;11940670;11994467;12107263;12107413;12200424;12217327;12435739;12477932;12493738;12566462;12700034;12878195;1325437;1386162;1446075;14536079;14576336;14592976;14627819;14752053;15030778;15044608;15057824;15070701;15138269;15242870;15280352;15310760;15327769;15333839;15351717;15456869;15507449;15509787;15555546;15923648;15934135;16007194;16043483;16055439;16206189;16215946;16230076;16252006;16407974;16428437;16449526;1649701;16546275;16705184;1671560;16769578;16782810;16814783;17183364;1720355;17250953;17272506;17311319;17426122;17721549;18185522;1818757;18390709;18455790;18611861;18727914;19074834;19125693;19299559;19308989;19321746;19322201;19323994;19362560;19497860;1967982;1967983;19801649;20022378;20050020;20211142;20217071;20519628;20603019;20714342;20802470;2105528;21119685;2112746;21212793;21258409;21285352;21498546;21532573;21534874;21551245;2163343;21655267;21771727;21788410;21828274;21832153;21869488;21988832;22207202;22354994;22387215;22514271;22544934;22564737;22743623;22829926;22972921;23000965;23044487;23063976;23085504;2308859;23090119;23135478;23449499;23492770;23555842;23688269;23812588;23851690;2385294;23940558;24216514;24369055;24454819;24596249;24816145;2493990;2503252;2799390;7568177;7623842;7933101;7935390;8001125;8152805;8159721;8164688;8432525;8617811;8628307;8759016;8900141;8918463;8948587;8999959;9001211;9013644;9050988;9073453;9184158;9199284;9209374;9214632;9235903;9242638;9409784;9418854;9507011;9525934;9582372;9584154;9624159;9742120 6929 K7EJN4;K7EK65;K7EKB9;K7ELF3;K7EMM4;K7ENH8;K7ENI0;K7EPH6;K7EPS2;K7ERZ7;P15923;Q2TB39;X6REB3 ABBA01002664;ABBA01002665;AC005321;AC006274;AK024806;AK310998;AMYH02035157;AMYH02035158;AW028755;BC005166;BC011665;BC014680;BC110580;BG284440;BU528547;CD516687;CD674814;CH471139;HI179080;KC877695;KF303591;M24404;M24405;M31222;M31523;M65214;NG_029953;NM_001136139;NM_003200;X52078;XM_005259620;XM_006722852;XM_006722853;XM_006722854;XM_006722855;XM_006722856;XM_006722857;XM_006722858;XM_006722859;XM_006722860;XM_006722861;XM_006722862;XM_006722863;XR_430150;XR_430151;XR_430152;XR_430153 AAA52331;AAA56829;AAA56830;AAA61146;AAC27373;AAC41693;AAC99797;AAH11665;AAI10581;AGX32161;CAA36297;CBX53848;EAW69467;EAW69468;EAW69469;EAW69470;EAW69471;EAW69472;NP_001129611;NP_003191;P15923;XP_005259677;XP_006722915;XP_006722916;XP_006722917;XP_006722918;XP_006722919;XP_006722920;XP_006722921;XP_006722922;XP_006722923;XP_006722924;XP_006722925;XP_006722926 Hs.371282;Hs.657044 1661766;2129640;2171988;2175275;2184703;2218618 G15946;G29322;RH12886;STS-M65214;TCF3_4169;WI-18183 E2A;E47;ITF1;MGC129647;MGC129648;TCF-3;VDIR;bHLHb21 E2A immunoglobulin enhancer-binding factor E12/E47;VDR interacting repressor;class B basic helix-loop-helix protein 21;helix-loop-helix protein HE47;immunoglobulin enhancer-binding factor E12/E47;immunoglobulin transcription factor 1;kappa-E2-binding factor;negative vitamin D response element-binding protein;transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47);transcription factor 3 variant 3;transcription factor E2-alpha;transcription factor ITF-1;vitamin D receptor-interacting repressor APPROVED protein-coding ENSG00000071564 HGNC:11633 00918 147141 REVIEWED 1314197 TCF7 transcription factor 7 (T-cell specific, HMG-box) The protein encoded by this gene is a transcriptional activator that plays an important role in lymphocyte differentiation. This gene is expressed predominantly in T-cells. The encoded protein can bind an enhancer element and activate the CD3E gene, and it also may repress the CTNNB1 and TCF7L2 genes through a feedback mechanism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 5 5 5 q31.1 129574095 129607613 + 133450402 133483920 + 134114711 134148229 + 2301908;6480464;6907045 10528152 10489374;11266540;12408869;12477932;12765974;12847244;14702039;14960582;1569101;15778344;16344560;16424171;16442529;18579517;18772112;18974840;19028820;19131662;19263529;19304756;19453261;19479237;19559392;1989880;19913121;19956102;20211142;20416077;20536507;20603037;20613673;20628086;20844743;21285352;21339363;21447180;21833088;21881822;22111711;22505724;22535304;22550000;22778133;23572277;23966864;24816145;7579399;7640309;8622675;9488439;9783587 6932 B7WNT5;E5RG34;E5RG75;E5RGJ5;E5RGQ1;E5RHL1;E5RJ51;H0YAR8;H0YBC8;H0YBM1;H0YBP2;P36402 ABBA01068766;ABBA01068767;AC008608;AC011336;AF163776;AK057580;AK093530;AK093683;AK131428;AK310591;AL832816;AL834166;AMYH02012238;BC048769;BC072023;CH471062;DA627229;DB127975;DB137814;DB145426;GN344127;GN344129;GN344131;GN344133;HI179100;HI179102;HI179104;HI179106;HI179108;NG_030367;NM_001134851;NM_003202;NM_201632;NM_201634;NM_213648;NR_033449;X59869;X59870;X59871;X63901;XM_006714678;XM_006714679;XM_006714680;XM_006714681;XM_006714682;XM_006714683;XM_006714684;XM_006714685;XM_006714686;XM_006714687;Z47361;Z47362;Z47363;Z47364 AAF00616;AAH48769;AAH72023;ABZ92190;BAG51937;BAG52735;BAG52748;CAA42526;CAA42527;CAA42528;CAA87439;CAA87440;CAA87441;CAA87442;CAB56795;CAY55999;CAY56000;CAY56001;CAY56002;CBX53858;CBX53859;CBX53860;CBX53861;CBX53862;EAW62277;EAW62278;EAW62279;EAW62280;NP_001128323;NP_003193;NP_963963;NP_963965;NP_998813;P36402;XP_006714741;XP_006714742;XP_006714743;XP_006714744;XP_006714745;XP_006714746;XP_006714747;XP_006714748;XP_006714749;XP_006714750 Hs.573153 1667450;1791800;1792596;1796908;2137543;5094711 PMC126018P1;PMC154232P3;SGC35447;SGC35448;TCF7_1076;Tcf7 FLJ36364;MGC47735;TCF-1 OTTHUMP00000159389;OTTHUMP00000159390;OTTHUMP00000159391;OTTHUMP00000227347;OTTHUMP00000227348;OTTHUMP00000227349;T-cell-specific transcription factor 1;transcription factor 7;transcription factor-7, T-cell specific APPROVED protein-coding ENSG00000081059 HGNC:11639 01797 189908 REVIEWED 732921 TCF4 transcription factor 4 This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Aug 2011] 18 18 18 q21.1 49606934 49973119 - 52889562 53303252 - 55222331 55635957 - 1580863;6480464;7240710;8554872;8699517 10757985;10903890;11266605;11500377;11591653;11713475;11713476;11756408;11784080;11802795;12417018;12477932;12657632;12727872;12799378;12944908;14702039;15331612;15333839;15351717;15489334;15525529;15684397;15831457;16007074;16126178;16230076;16344560;16407974;16630820;16714285;16724116;1681116;17050667;17072306;17410209;17412698;17436254;17436255;17478476;17914096;18222743;18281465;18371301;18627065;18635522;18792017;18854153;19074834;19235238;19394332;19453261;19563778;19571808;19571811;19635457;19778269;19938247;20126258;20141612;20205897;20211142;20379614;20421335;20585880;20603019;20603605;20673877;20825314;21037240;2105528;21228604;21245398;21282610;21441570;21533127;21543597;21599871;21659310;21671075;21720709;21722264;21764279;21771727;21789225;21791550;21812098;21850686;21900206;21926974;21983179;21988832;22016394;22022540;22045651;22080605;22146553;22155184;22156527;22231735;22232078;22234156;22258766;22383159;22451930;22460224;22674979;22688191;22699938;22766303;22777675;22805760;22821403;22832956;22934316;22998502;23000965;23029137;23030478;2308860;23110055;23129290;23152614;23165966;23185296;23224985;23249814;23295773;23306204;23437103;23449499;23453885;23504200;23563609;23603903;23613959;23671559;23772552;23840876;23844215;23894747;23974872;24027308;24058414;24094747;24255041;24275585;24339136;24413739;24596249;24605829;24722188;24798214;24816145;24846398;8576241;8978694;8999959;9242638;9302263;9584154;9618760;9668116;9824680 6925 B3KVA4;E9PH57;G0LNT4;G0LNT7;H3BMC8;H3BME8;H3BML7;H3BNI2;H3BNZ2;H3BP59;H3BPG3;H3BPJ7;H3BRF7;H3BSP7;H3BT24;H3BT95;H3BTC3;H3BTM9;H3BTP3;H3BTZ0;H3BUQ3;K7ESI6;P15884 AB209741;ABBA01056110;ABBA01056111;ABBA01056112;ABBA01056113;ABBA01056114;ABBA01056115;ABBA01056116;AC013587;AC018994;AC090383;AC090684;AC091103;AK021980;AK026674;AK095041;AK095066;AK096862;AK122765;AK299169;AK300038;AK300612;AK300636;AK301144;AK315074;AK316165;AL518903;AMYH02034771;AMYH02034772;AMYH02034773;AMYH02034774;BC031056;BC125084;BC125085;BJ989626;CH471096;DB047766;DB451911;DC298029;FR748204;FR748205;FR748206;FR748207;FR748208;FR748209;FR748210;FR748211;FR748212;FR748213;FR748214;FR748215;FR748216;FR748217;FR748218;FR748219;FR748220;FR748221;FR748222;FR748223;HY051304;KF459816;M74718;M74719;M74720;NG_011716;NM_001083962;NM_001243226;NM_001243227;NM_001243228;NM_001243230;NM_001243231;NM_001243232;NM_001243233;NM_001243234;NM_001243235;NM_001243236;NM_003199;U75701;X52079;XM_005266739;XM_005266741;XM_005266743;XM_005266744;XM_005266745;XM_005266746;XM_005266747;XM_005266749;XM_005266750;XM_005266752;XM_005266754;XM_005266755;XM_005266761;XM_006722529;XM_006722530;XM_006722531;XM_006722532;XM_006722533;XM_006722534;XM_006722535;XM_006722536;XM_006722537;XM_006722538;XM_006722539;XM_006722540 AAA60310;AAA60311;AAA60312;AAC51824;AAI25085;AAI25086;BAD92978;BAG52974;BAG53382;BAG53716;BAG61849;BAG62325;BAH12962;BAH13314;BAH13417;BAH14536;CAA36298;CBY80183;CBY80184;CBY80185;CBY80186;CBY80187;CBY80188;CBY80189;CBY80190;CBY80191;CBY80192;CBY80193;CBY80194;CBY80195;CBY80196;CBY80197;CBY80198;CBY80199;CBY80200;CBY80201;CBY80202;EAW63017;EAW63018;EAW63019;EAW63020;EAW63021;EAW63022;EAW63023;EAW63024;NP_001077431;NP_001230155;NP_001230156;NP_001230157;NP_001230159;NP_001230160;NP_001230161;NP_001230162;NP_001230163;NP_001230164;NP_001230165;NP_003190;P15884;XP_005266796;XP_005266798;XP_005266800;XP_005266801;XP_005266802;XP_005266803;XP_005266804;XP_005266806;XP_005266807;XP_005266809;XP_005266811;XP_005266812;XP_005266818;XP_006722592;XP_006722593;XP_006722594;XP_006722595;XP_006722596;XP_006722597;XP_006722598;XP_006722599;XP_006722600;XP_006722601;XP_006722602;XP_006722603 Hs.605153;Hs.742885 1334577;1341362;1657829;1660367;1664175;1685700;1699412;1709340;1710848;1716681;1730413;1763371;1768693;1777028;1795094;1856696;2125364;2163372;2173825;2179020;2180708;2181634;2182253;7184713 AFM357td5;D18S1030;D18S1119;D18S1295;D18S1309;D18S35;D18S76E;D18S837;L29703;PMC97633P1;RH103297;RH121599;RH12446;RH12470;RH70760;RH92749;SGC30723;SHGC-147092;SHGC-57835;SHGC-64012;SHGC-81668;SHGC-84194;WI-21824 E2-2;ITF-2;ITF2;MGC149723;MGC149724;PTHS;SEF-2;SEF2;SEF2-1;SEF2-1A;SEF2-1B;SEF2-1D;TCF-4;bHLHb19 OTTHUMP00000163567;OTTHUMP00000163568;SL3-3 enhancer factor 2;class B basic helix-loop-helix protein 19;immunoglobulin transcription factor 2;transcription factor 4, isoform B+;transcription factor 4, isoform B-;transcription factor 4, isoform C;transcription factor 4, isoform D;transcription factor 4, isoform E;transcription factor 4, isoform R APPROVED protein-coding ENSG00000196628 HGNC:11634 03780 125853;602272;610954 REVIEWED 6481054 TCF7L1-IT1 TCF7L1 intronic transcript 1 (non-protein coding) p11.2 100874334 AC011236;DB450376 Hs.693125 ncrna HGNC:41388 1323251 TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box) This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010] 2 2 2 p11.2 85189038 85365500 + 85360583 85537511 + 85133460 85310388 + 1578492;1580863;2301908;6480464;6907045 10528152;9488439 11085512;11136974;11238923;11266540;12477932;15489334;15815621;16565489;17234346;1741298;17873379;18258400;19301967;19304756;19308021;19373426;19906297;20379614;20532534;22505724;22930747;24816145;9916915 83439 C9JPE3;Q9HCS4 AB031046;ABBA01075740;ABBA01075741;ABBA01075742;ABBA01075743;ABBA01075744;ABBA01075745;AC011236;AC093162;AMYH02004174;AMYH02004175;AMYH02004176;AMYH02004177;AMYH02004178;BC058894;BF434361;CH471053;NM_031283;X62870;XM_006712109;XM_006712110 AAH58894;AAY15068;AAY24094;BAB18185;CAB91064;EAW99542;NP_112573;Q9HCS4;XP_006712172;XP_006712173 Hs.516297 1298201;1658932;1699490;1702726;1721365;1762551;1763095;1764535;1772292;1794438;1798260;2122119;2135441;2171330 A006A34;D2S2333;D2S2755;D2S2793;DXS7905;G59683;PMC31284P1;RH103338;RH45456;RH45510;SHGC-146364;SHGC-146832;SHGC-148128;TCF7L1_2208 TCF-3;TCF3 HMG box transcription factor 3;HMG-box transcription factor TCF-3;OTTHUMP00000160497;transcription factor 7-like 1 APPROVED protein-coding ENSG00000152284 HGNC:11640 06874 604652 REVIEWED 1348705 TCFL5 transcription factor-like 5 (basic helix-loop-helix) ENCODES a protein that exhibits DNA binding; INVOLVED IN regulation of cell differentiation; regulation of cell proliferation; regulation of transcription, DNA-templated; FOUND IN nucleus; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; copper(2+) sulfate 20 20 20 q13.33 58148498 58169147 - 61472467 61493115 - 62841115 62861763 - 1580863;6480464 11306602;11780052;12477932;12923186;17006541;18976975;22360420;23251661;9763657 10732 F8W9A4;Q86TP4;Q9UL49 AB012124;ABBA01021373;AF070992;AJ271337;AL035669;AMYH02037441;BC046933;BC065520;BU632218;CA419503;CH471077;NM_001301726;NM_006602;XM_005260184;XM_005260185;XM_005260186 AAD53986;AAH46933;BAA36557;CAC24700;EAW75329;EAW75330;EAW75331;NP_001288655;NP_006593;Q9UL49;XP_005260241;XP_005260242;XP_005260243 Hs.126248 1675231;1676228;1678109;1682427;1682567;1688835;1698988;2181646;5015619;5015861;5016851;5037552;5491858;7185938 D10S16;D11S3114;D8S2279;RH103064;RH16374;RH36237;RH38988;RH64147;RH66084;RH80031;SHGC-34346;SHGC-35186;TCFL5 CHA;E2BP-1;Figlb;MGC46135;bHLHe82 HPV-16 E2 binding protein 1;HPV-16 E2-binding protein 1;OTTHUMP00000031511;cha transcription factor;transcription factor-like 5 protein protein-coding ENSG00000101190 HGNC:11646 05297 604745 VALIDATED 1320079 TCHH trichohyalin Trichohyalin confers mechanical strength to the hair follicle inner root sheath and to other toughened epithelial tissues, such as the hard palate and filiform ridges of the tongue, by forming multiple complex crosslinks with itself and with other structural proteins (Steinert et al., 2003 [PubMed 12853460]).[supplied by OMIM, Dec 2009] 1 1 1 q21.3 125193457 125201237 - 152078793 152087930 - 152106317 152115454 - 1580863;6480464 12477932;12853460;1431214;17081983;17353931;18029348;18643848;19896111;20585627;20722389;23314748;7685034;7686953;8423399 7062 Q07283;Q5D861 ABBA01049410;AL589986;AMYH02001891;AY827491;BC131826;BC131827;L09190;NM_007113;S63672 AAA65582;AAB27489;AAI31827;AAI31828;AAX12418;NP_009044;Q07283 Hs.432416 1653680;1852450;2180111 D1S2399;RH17609;RH69475 MGC157889;MGC157890;THH;THL;TRHY OTTHUMP00000015268 APPROVED protein-coding ENSG00000159450 HGNC:11791 190370 VALIDATED 1605587 TCHHL1 trichohyalin-like 1 This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013] 1 1 1 q21.3 125171284 125176204 - 152056620 152061540 - 152084144 152089064 - 8554872 12477932;20585627;21614011;22939629;23376073 126637 Q5QJ38 ABBA01049409;AL591893;AMYH02001891;AY456639;BC137493;CH471121;CS673536;CS690919;FB665672;GM706884;NM_001008536 AAI37494;AAS13485;CAP07535;CAP11503;CAR97118;CAT82390;EAW53391;NP_001008536;Q5QJ38 Hs.546477 2176719 AL009569 S100A17;THHL1 OTTHUMP00000015255;S100 calcium binding protein A17;S100 calcium-binding protein A17;basalin;intermediate filament-associated protein;trichohyalin-like protein 1 protein-coding ENSG00000182898 HGNC:31796 18179 REVIEWED 1317786 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] 10 10 10 q25.3 108437726 108655178 + 114709978 114927437 + 112950219 113167678 + 1580863;2312454;2312455;2312453;2312417;2301908;2312433;6480464;6907045;7240710;6906926;8554872;5490966 10528152;18772397;18984664;19386626;19482368;19506043;19509102;19585101 10080941;10694436;10828605;10919662;10937998;11266540;11504726;11528255;11711551;11713475;11713476;11739494;11931652;11940574;11980438;12086873;12368361;12378619;12408825;12408868;12446687;12477932;12556497;12711682;12727872;12799378;12861022;14661054;15040893;15294866;15331612;15377999;15489334;15514942;15525529;15525634;15578569;15591320;15670774;15684397;15806138;15853773;15905022;16007074;16204248;16291872;16306047;16311123;16344560;16385451;16415884;16434966;16532032;16547505;16569639;16690926;16714285;16724116;16855264;16936215;16936216;16936217;16936218;16950124;17003358;17003360;17020404;17031610;17052462;17063324;17065361;17072303;17072306;17091236;17093940;17093941;17109766;17122440;17130514;17143297;17181866;17226113;17245407;17245589;17259383;17283121;17293876;17311858;17317761;17340123;17342473;17351281;17392368;1741298;17416797;17429603;17437080;17456004;17460697;17463246;17463248;17463249;17470138;17476472;17503332;17519421;17540954;17554300;17563454;17579206;17579832;17593304;17601994;17609304;17618413;17653210;17659738;17661009;17665514;17668382;17671651;17683561;17697858;17709525;17725629;17768662;17805508;17873903;17875931;17901222;17909099;17934151;17971425;17972059;17977958;17983804;18039847;18048388;18071026;18072015;18097733;18166673;18193033;18203713;18216022;18239663;18248681;18257044;18264689;18268006;18268068;18282631;18288125;18291022;18302196;18310307;18342627;18347071;18372903;18397358;18398040;18437354;18439914;18443202;18445358;18461161;18469204;18478343;18493736;18498634;18516622;18519685;18541996;18546086;18555673;18591388;18597214;18598350;18599616;18611970;18621708;18650481;18655717;18689695;18694974;18702948;18706099;18712344;18719881;18755497;18762805;18772112;18781613;18799618;18806947;18823720;18839133;18853134;18931037;18958766;18972257;18992165;18992263;18996470;19002430;19012045;19020323;19020324;19033397;19050058;19053027;19055834;19056611;19057525;19082521;19105201;19124064;19131553;19139842;19141695;19141698;19149908;19156536;19168596;19169495;19172244;19183934;19211816;19221600;19225753;19228405;19247372;19247628;19252133;19258404;19258437;19267370;19269971;19279076;19286335;19288077;19304756;19322201;19324937;19351735;19368707;19380854;19401414;19443654;19473183;19497595;19502414;19533015;19563778;19573884;19592620;19602480;19602701;19615048;19636253;19643578;19679347;19713311;19718565;19720844;19732438;19734900;19741467;19760027;19789636;19794065;19806338;19808892;19825152;19833889;19864407;19876004;19885641;19895682;19913121;19924244;19924301;19933996;19934000;19948975;20027603;20028944;20032493;20033802;20041287;20043145;20054294;20075150;20081857;20081858;20092643;20095040;20097709;20107109;20118932;20122174;20142250;20161779;20185807;20203524;20215779;20219685;20299486;20361036;20372961;20379614;20384434;20424228;20437825;20459822;20478041;20485196;20490451;20503258;20508220;20532534;20540670;20546291;20550665;20571754;20578204;20581827;20597906;20602615;20616309;20628086;20640398;20648057;20654575;20682688;20694148;20696899;20705583;20712903;20739273;20798759;20802253;20816152;20849430;20873210;20878273;20879858;20889853;20923526;20929593;20957343;20967696;20980453;21109996;21115178;21150882;21159844;21256126;21285352;21292023;21301999;21347282;21357677;21383188;21384500;21388956;21414605;21423583;21436631;21441570;21454679;21510814;21543200;21595284;21636708;21641671;21670201;21673050;21678030;21693764;21707949;21772333;21814547;21855162;21857094;21873549;21892161;21906983;21913056;21921652;21956205;21988832;22101970;22109281;22109522;22136959;22245614;22247771;22275441;22296403;22301903;22318732;22355027;22402060;22441719;22443257;22480428;22487833;22505724;22524208;22552033;22558147;22581228;22583123;22591707;22693455;22712642;22768190;22782288;22843023;22862926;22885420;22911383;22916254;22923468;22942101;22945304;22951069;22967502;23010200;23011354;23014255;23034957;23041303;23050589;23085767;23086040;23107111;23142382;23144361;23188737;23193183;23209189;23295285;23300278;23311683;23349771;23395167;23434931;23527206;23535729;23536853;23544013;23558246;23577093;23579632;23617586;23648141;23651211;23670970;23855352;23926018;23935130;23945395;23951231;24002895;24059590;24072042;24128935;24157263;24159190;24214952;24266846;24322204;24338422;24390345;24816145;24961829;25185411;8125298;9065401;9065402;9727977;9916915 6934 B4DJZ2;B7Z9Z6;C6ZRJ7;C6ZRJ9;C6ZRK1;C6ZRK2;C6ZRK5;E2GH13;E2GH16;E2GH18;E2GH26;H0YEE5;Q5JRY3;Q5JRY4;Q5JRY5;Q5VVR5;Q5VVR7;Q5VVR8;Q6FHW4;Q9NQB0 AB034691;AB440195;AB451266;ABBA01062997;ABBA01062998;ABBA01062999;ABBA01063000;ABBA01063001;ABBA01063002;AJ270770;AK074705;AK225809;AK296305;AK299295;AK301483;AK303684;AK315243;AK316111;AL135792;AL158212;AL445486;AL451084;AMYH02023827;AMYH02023828;AMYH02023829;AMYH02023830;AMYH02023831;AMYH02023832;AMYH02023833;BC032656;BX648364;CH471066;CR536574;DA473655;FJ010164;FJ010165;FJ010166;FJ010167;FJ010168;FJ010169;FJ010170;FJ010171;FJ010172;FJ010173;FJ010174;HM352838;HM352839;HM352840;HM352841;HM352842;HM352843;HM352844;HM352845;HM352846;HM352847;HM352848;HM352849;HM352850;HM352851;NG_012631;NM_001146274;NM_001146283;NM_001146284;NM_001146285;NM_001146286;NM_001198525;NM_001198526;NM_001198527;NM_001198528;NM_001198529;NM_001198530;NM_001198531;NM_030756;XM_005270071;XM_005270073;XM_005270074;XM_005270075;XM_005270076;XM_005270077;XM_005270078;XM_005270079;XM_005270080;XM_005270082;XM_005270083;XM_005270084;XM_005270085;XM_005270086;XM_005270088;XM_005270089;XM_005270091;XM_005270092;XM_005270093;XM_005270094;XM_005270095;XM_005270096;XM_005270097;XM_005270098;XM_005270099;XM_005270100;XM_005270101;XM_005270102;XM_005270103;XM_005270104;XM_005270105;XM_006717955;XM_006717956;XM_006717957;XM_006717958;Y11306 AAH32656;ACI28522;ACI28523;ACI28524;ACI28525;ACI28526;ACI28527;ACI28528;ACI28529;ACI28530;ACI28531;ACI28532;ADK35174;ADK35175;ADK35176;ADK35177;ADK35178;ADK35179;ADK35180;ADK35181;ADK35182;ADK35183;ADK35184;ADK35185;ADK35186;ADK35187;BAA86225;BAG51988;BAG59004;BAG61310;BAG62997;BAG64677;BAG70080;BAH14482;BAH24004;CAA72166;CAB97212;CAB97213;CAB97214;CAB97215;CAB97216;CAB97217;CAB97218;CAB97219;CAG38811;EAW49506;EAW49507;EAW49508;EAW49509;EAW49510;EAW49511;EAW49512;EAW49513;EAW49514;EAW49515;EAW49516;EAW49517;NP_001139746;NP_001139755;NP_001139756;NP_001139757;NP_001139758;NP_001185454;NP_001185455;NP_001185456;NP_001185457;NP_001185458;NP_001185459;NP_001185460;NP_110383;Q9NQB0;XP_005270128;XP_005270130;XP_005270131;XP_005270132;XP_005270133;XP_005270134;XP_005270135;XP_005270136;XP_005270137;XP_005270139;XP_005270140;XP_005270141;XP_005270142;XP_005270143;XP_005270145;XP_005270146;XP_005270148;XP_005270149;XP_005270150;XP_005270151;XP_005270152;XP_005270153;XP_005270154;XP_005270155;XP_005270156;XP_005270157;XP_005270158;XP_005270159;XP_005270160;XP_005270161;XP_005270162;XP_006718018;XP_006718019;XP_006718020;XP_006718021 Hs.593995 1335006;1650613;1670437;1694700;1698008;1750351;1757537;1851280;2127383;2127882;2141604;2153025;2154444;2170483;2173589;2175051;2175053;2178822;7185553 A006F09;D10S1597;D10S168;D10S2296;G20756;G43540;RH102533;RH11324;RH48450;RH66532;SHGC-112532;SHGC-144967;SHGC-33545;SHGC-58284;SHGC-6704;STS-T81462;STS-T97004;WI-20234 TCF-4;TCF4;hTCF-4 HMG box transcription factor 4;OTTHUMP00000020496;T-cell factor 4;T-cell factor-4 variant A;T-cell factor-4 variant B;T-cell factor-4 variant C;T-cell factor-4 variant D;T-cell factor-4 variant E;T-cell factor-4 variant F;T-cell factor-4 variant G;T-cell factor-4 variant H;T-cell factor-4 variant I;T-cell factor-4 variant J;T-cell factor-4 variant K;T-cell factor-4 variant L;T-cell factor-4 variant M;T-cell factor-4 variant X2;T-cell-specific transcription factor 4;transcription factor 7-like 2 APPROVED protein-coding ENSG00000148737 HGNC:11641 03751 125853;602228 REVIEWED 1604269 TCHP trichoplein, keratin filament binding INVOLVED IN apoptotic process; negative regulation of cell growth; ASSOCIATED WITH Melanoma (inferred); FOUND IN apical cortex; centrosome; cytoplasm; INTERACTS WITH atrazine; copper(2+) sulfate; 2,4-dinitrotoluene (ortholog) 12 12 12 q24.11 109962427 109980222 + 110338079 110355874 + 109900274 109918069 + 6480464;8554872 12477932;14702039;15731013;15731014;15731015;15731016;15731017;15731018;16189514;18029348;18931701;20930847;21145461;21325031;23319000;24255178;24403067;24816145 84260 F5GWH6;Q9BT92 ABBA01005081;AC084876;AK000079;AK092736;AK301262;AMYH02027175;AY007230;AY210413;BC004285;BC022838;BX648596;CH471054;CS673586;CS690969;FB665722;GM706934;NM_001143852;NM_032300;XM_006719638 AAG12971;AAH04285;ABW03552;ABW03857;BAC03960;BAG62828;CAP07553;CAP11522;CAR97137;CAT82435;EAW97883;EAW97884;NP_001137324;NP_115676;Q9BT92;XP_006719701 Hs.410924 2181500 STS-R42792 MGC10854;TpMs OTTHUMP00000240671;OTTHUMP00000240672;OTTHUMP00000240673;mitochondrial protein with oncostatic activity;mitostatin;trichoplein keratin filament-binding protein;tumor suppressor protein protein-coding ENSG00000139437 HGNC:28135 14403 612654 VALIDATED 1603702 TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 65140155 65152040 + 67806462 67818366 + 68038995 68053839 + 6480464;6907045;7240710;8554872;8699517 10221984;10224039;10329006;10340843;10440860;10888887;10942435;11532986;11836511;12054167;12161516;12477932;12552563;12566520;12788495;12813892;14523594;14580332;14584882;14597263;15300850;15800125;15809087;17082597;17662945;17897319;18270567;18715141;19172990;19371798;19453261;19507210;20424301;20525692;20877624;21042819;21139048;21906983;21963094;21987572;21988832;22231430;22939629;23288846;24072707;2874839;8579597;9210392;9442887;9806637 10312 E9PM12;E9PMC5;E9PNA6;H0YCE3;H0YEL3;Q13488;Q8TCH1 AA625923;ABBA01024019;AF025374;AF033033;AF497545;AMYH02025001;AP002807;AW083897;AY548967;AY548968;AY548969;AY548970;AY548971;AY708388;AY708389;AY708390;AY708391;BC018133;BC032465;BX388184;CH471076;HG503906;NG_007878;NM_006019;NM_006053;U45285;XM_005273709;XM_005273710;XM_006718417 AAA97878;AAC35742;AAD31081;AAH18133;AAH32465;AAM18704;AAS59834;AAS59835;AAS59836;AAS59837;AAS59838;AAU20795;ABW03394;EAW74689;EAW74690;EAW74691;EAW74692;NP_006010;NP_006044;Q13488;XP_005273766;XP_005273767;XP_006718480 Hs.495985 1766095;2116414;2191705 MARC_5391-5392:996690342:1;RH70640;SHGC-149479 ATP6N1C;ATP6V0A3;Atp6i;OC-116kDa;OC116;OPTB1;RP11-802E16.3;Stv1;TIRC7;Vph1;a3 ATPase, H+ transporting, 116kD;OC-116 kDa;OTTHUMP00000235794;OTTHUMP00000235863;T cell immune response cDNA7 protein;T-cell immune regulator 1;T-cell immune response cDNA 7;T-cell immune response cDNA7 protein;T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3;T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a;V-ATPase 116 kDa;V-ATPase 116-kDa;V-type proton ATPase 116 kDa subunit a;V-type proton ATPase 116 kDa subunit a isoform 3;osteoclastic proton pump 116 kDa subunit;specific 116-kDa vacuolar proton pump subunit;vacuolar proton translocating ATPase 116 kDa subunit A APPROVED protein-coding ENSG00000110719 HGNC:11647 05207 259700;604592 REVIEWED 1346019 TCL1B T-cell leukemia/lymphoma 1B INTERACTS WITH 17beta-estradiol; amiodarone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q32.1 76208508 76214717 + 96152754 96158980 + 95686417 95692643 + 1580863;6480464 10077617;10344735;10851082;10983986;11607815;11707444;12477932;14702039;16169070;19229105;20228224;20800603;21832049 9623 O95988;Q9NPF3 AB018563;AB025274;ABBA01048600;AF110465;AF110466;AF137027;AI250350;AL133467;AMYH02029799;BC041616;BC051000;BQ058954;CH471061;CR457087;KF455996;NM_004918 AAD16996;AAD16997;AAD30130;AAH41616;AAH51000;BAA76712;BAA82476;CAG33368;EAW81619;EAW81620;NP_004909;O95988 Hs.632346 1796912 TCL1B_1081 SYN-1;TML1 OTTHUMP00000195765;T-cell leukemia/lymphoma protein 1B;T-cell lymphoma/leukemia 1B;TCL1/ MTCP1-like 1;TCL1/MTCP1-like protein 1;oncogene TCL-1B;oncogene TCL1B;syncytiotrophoblast-specific protein protein-coding ENSG00000213231 HGNC:11649 04795 603769 VALIDATED 1349828 TCL4 T-cell leukemia/lymphoma 4 2189107;3194416 6946 HGNC:11650 186860 1318064 TCL1A T-cell leukemia/lymphoma 1A Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010] 14 14 14 q32.1 76232053 76236282 - 96176304 96180533 - 95709967 95714196 - 1580863;6480464;8699517 10077617;10983986;11607815;11707444;12009899;12127395;12381789;12421830;12477932;12576313;12672960;15325703;15459205;15489334;16002684;16189514;16934922;17151114;17178851;17360849;17548807;17592280;17625607;17659340;17846228;17890451;18546844;18820675;19064921;19155496;19480937;19536169;19668332;19776126;19889012;20357824;20379614;20382409;20395523;20553335;20876420;21130495;21172079;22001392;22065599;22189846;22308499;22405131;22448662;22460735;22553924;22645177;22674796;22875623;23160471;23608884;2783489;7809072;7987816;9519406;9520462;9738977 8115 G3V4T4;H0YJR9;P56279 ABBA01048600;AL139020;AMYH02029800;BC003574;BC005831;BC009502;BC009891;BC014024;BG718395;BU602054;CH471061;CR456796;JC006894;NM_001098725;NM_021966;NR_049726;X82240;X82241 AAH03574;AAH05831;AAH14024;ABM83426;ABM86639;CAA57708;CAG33077;CDL93495;EAW81622;EAW81623;NP_001092195;NP_068801;P56279 Hs.2484 1783028;1783068;1796910;2184148;2185715;5117626 GDB:593221;RH44550;SGC35414;SHGC-142631;SHGC-153944;TCL1A_1080 TCL1 OTTHUMP00000245945;OTTHUMP00000245946;OTTHUMP00000245951;T-cell leukemia/lymphoma protein 1A;T-cell lymphoma-1;T-cell lymphoma-1A;oncogene TCL-1;oncogene TCL1;protein p14 TCL1 APPROVED protein-coding ENSG00000100721 HGNC:11648 01744 186960 VALIDATED 1344014 TCL6 T-cell leukemia/lymphoma 6 (non-protein coding) 14 14 14 q32.1 76173267 76195533 + 96117515 96144650 + 95651178 95673452 + 10588720;10851082;11710897;12477932;14702039;15489334;20031603 27004 Q9P2S1 AB035332;AB035333;AB035334;AB035335;AB035337;AB035338;AB035339;AB035346;ABBA01048601;AF195820;AF195821;AK023714;AL133467;AMYH02029799;BC041075;BX161462;CH471061;NR_028288 AAF07203;AAF07204;AAH41075;BAA96371;BAA96372;BAA96373;BAA96374;BAA96375;BAA96376;CAD61923;EAW81609;EAW81610;EAW81611;EAW81612;EAW81613;EAW81614;EAW81615;EAW81616;EAW81617;EAW81618 Hs.510368;Hs.732224 1653563;1667345;1684952;1796914;1856625;2113662;2117645;5093260 A009K21;AB072793;G32614;RH45107;RH45537;RH77821;RH98896;TCL6_1280 FLJ13652;TCL6e1;TCL6f1;TCL6f2;TNG1;TNG2 APPROVED ncrna ENSG00000187621 HGNC:13463 05104 604412 PREDICTED 1349641 TCN1 transcobalamin I (vitamin B12 binding protein, R binder family) This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008] 11 11 11 q11-q12 56983039 56996799 - 59620281 59634041 - 59852808 59866568 - 1580863;6480464 11373332;11717507;1176444;11788601;12194912;12477932;12590948;12923155;1463480;14656021;14739547;15073531;15201366;15342556;15489334;15834031;15941899;16268464;16335952;16341674;16470748;16502470;16740002;17487979;17891500;18485163;18830263;19303062;19686235;19729796;19744961;19913121;19948975;20082058;20216556;20360068;20628086;20852008;21574054;22306884;22872637;23670528;23846701;24057896;2777761 6947 P20061 ABBA01021509;AK292990;AMYH02024868;AP002347;BC018632;BM769693;BM818792;BP370727;CH471076;J05068;M74722;NM_001062 AAA61058;AAI56608;ABM83733;ABM87053;BAF85679;EAW73861;NP_001053;P20061 Hs.2012 1742565;1775663;2152802 GDB:197886;SHGC-12512;TCN1 HC;TC I;TC-1;TC1;TCI OTTHUMP00000235879;haptocorin;haptocorrin;transcobalamin-1 APPROVED protein-coding ENSG00000134827 HGNC:11652 01795 189905 REVIEWED 1347590 TCN2 transcobalamin II This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 22 22 22 q12.2 14802947 14823211 + 31003070 31023047 + 30607083 30627060 + 1580449;1580450;1580451;1580863;6480464;7240710;8699517;8554872 12590948;16530812;7849710 10518276;10591208;11159542;11788601;12064907;12091374;12107818;12413492;12456598;12477932;12660150;12911562;14632784;14718574;14725943;15086930;15461802;15489334;15782407;15937947;16470748;16537422;16820193;16894458;16917939;17035141;1708393;17119065;17220211;17366004;17436311;17449906;17992530;18023275;18226574;18386810;18427977;18435414;18447718;18635682;18700049;18799873;18806228;18818748;18988749;19019335;19048631;19161160;19274320;19324355;19373259;19461557;19527514;19546821;19737740;19777601;19936946;19948975;20031554;20056620;20082058;20140262;20144600;20216556;20237949;20458436;20607612;20615890;20664391;20808328;20852008;20883119;20890610;20948192;21163940;21214274;21770021;21832049;21865561;21975197;22188304;22544364;22794911;23089108;2309761;23099805;24122983;3461892;3466852;3782074;655167;6860794;7129444;7695633;7713919;7742531;7913804;8125298;8439564;8443384;9847074 6948 AAB25526;B5MBX2;C9J6W9;F8WE86;P20062 ABBA01055303;AC005006;AF047576;AF076647;AK225445;AK313711;AMYH02038218;BC001176;BC011239;CH471095;CR456591;L02647;L02648;M60396;NG_007263;NM_000355;NM_001184726 AAA61054;AAA61056;AAA61057;AAB25526;AAC05491;AAG24506;AAH01176;AAH11239;ABM83737;ABM87056;CAG30477;CAK54622;CAK54921;EAW59907;EAW59908;EAW59909;EAW59910;NP_000346;NP_001171655;P20062 Hs.417948 1683878;1745115;1745117;1745119;1745121;1745123;1745125;1745905;1847279;2109925;2121408;2145075;2148101;2182548;5037552;5117666;5117668 D22S750;D8S2279;G18183;GDB:594872;GDB:594873;GDB:594875;GDB:594882;GDB:594884;GDB:594886;GDB:594889;GDB:594891;GDB:681759;RH27837;SHGC-12522;STS-AA036886;STS-L02648;TCN2_8668 D22S676;D22S750;II;TC;TC II;TC-2;TC2;TCII OTTHUMP00000199117;OTTHUMP00000199118;OTTHUMP00000199119;macrocytic anemia;transcobalamin-2;vitamin B12-binding protein 2 APPROVED protein-coding ENSG00000185339 HGNC:11653 02037 275350;613441 REVIEWED 732136 TCP1 t-complex 1 The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010] 6 6 6 q25.3-q26 160845607 160856819 - 160199530 160212135 - 159778498 159789703 - 1580863;6480464 10075921;10353914;10524223;10791973;10978337;11018062;11532003;11771755;11933046;12060742;12215766;12477932;12502735;12665801;12887895;14499622;14532270;14574404;14636579;15161933;15251459;15489334;1572657;15745879;15923617;15967112;1602151;16085932;16196087;16263121;1630491;1630492;16335966;16341674;16465465;16497536;16916647;17081983;17314511;17339318;17643375;17939680;18029348;18654987;18715871;18729074;18775504;18781797;18782753;1901944;19056867;19132087;19156129;19188445;19380743;19684306;19738201;19913121;20193073;20473970;20516061;20585571;20628086;21081666;21098288;21139048;21145461;21319273;21343306;21525035;21639856;21726808;21890473;21906983;21942715;21963094;21987572;22053931;22160715;22268729;22304920;22360420;22505724;22623428;22810585;22863883;22939629;23000965;23077236;23125841;23184937;23318261;23349634;23383273;23398456;23402259;23438482;23443559;23455922;23658844;23703321;23752268;2377466;23862649;24244333;24250222;24298020;24816145;24846140;25015289;25027693;3476253;3653076;7615668;7904580;7908441;7916460;7953530;8098536;8633246;8718679;8733136;8812443;8889548;8982604;9189717;9250675;9337846;9885248 6950 E7EQR6;E7ERF2;F5GYL4;F5GZ03;F5GZI8;F5H136;F5H282;F5H676;F5H726;F5H7Y1;P17987 AA810047;ABBA01021060;AK312604;AL135914;AMYH02014873;BC000665;BM697304;BM827784;BT006969;CH471051;M26885;M27271;M27272;NM_001008897;NM_030752;X14986;X52882 AAA61059;AAA61060;AAH00665;AAP35615;ABM84697;ABM92217;CAA37064;EAW47616;EAW47617;EAW47618;NP_001008897;NP_110379;P17987 Hs.363137 1857693;2132350;2168149;5117186 D6S1840;G06897;GDB:451649;SHGC-36020 CCT-alpha;CCT1;CCTa;D6S230E;TCP-1-alpha OTTHUMP00000017529;OTTHUMP00000238927;OTTHUMP00000238928;OTTHUMP00000238929;T-complex protein 1 subunit alpha;T-complex protein 1, alpha subunit;t-complex protein 1;tailless complex polypeptide 1 APPROVED protein-coding ENSG00000120438 HGNC:11655 01748 186980 REVIEWED 1316655 TCP10 t-complex 10 FOUND IN cytosol (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); bis(2-chloroethyl) sulfide (ortholog); choline (ortholog) 6 6 6 q27 168326422 168337822 + 167786577 167797998 - 167373089 167384510 - 1580863;6480464 10934474;12477932;14574404;17207965;21832049;23314748;8111376 6953 D1MPS5;D6RC62;D6RHT9;H0YA40;Q12799 AA994391;ABBA01033432;AL592444;AMYH02014980;BC063451;BC065839;BC068592;CH471051;DB446953;NM_004610;U03399 AAA82109;AAH63451;ADQ32567;EAW47495;NP_004601;Q12799 Hs.351 1653744;1705006;1717721;1774875;2021218;2021220 D6S1843;REN81594;REN81595;RH121768;SHGC-78012;STS-U03399 MGC34049;TCP10A OTTHUMP00000017628;OTTHUMP00000220502;T-complex protein 10A homolog;t-complex 10 (a murine tcp homolog);t-complex 10 homolog APPROVED protein-coding HGNC:11656 01752 187020 VALIDATED 1320415 TCOF1 Treacher Collins-Franceschetti syndrome 1 This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 5 5 5 q32 145818601 145860948 + 149737202 149779871 + 150357639 150400308 + 1599379;1580863;6480464;6907045;7240710;8699517;8554872 9096354 10545604;10982400;11013442;11734546;12114482;12171929;12210332;12477932;12777385;1303194;14702039;15019983;15039977;15249688;15302935;15340364;15385968;15489334;15604408;15832313;15848144;16102917;16801042;16964243;17081983;17353931;17620599;17643375;1765376;17786119;18029348;18688869;19027870;19067896;19527688;19596686;19615732;20003452;20237496;20301704;20538960;20634891;20800603;20811636;21139048;21145461;21182205;21693764;21848650;21951868;21988832;22317976;22586326;22729243;22939629;22952844;22990118;23398456;23455922;23463506;23602568;23838542;24332808;24457600;24639526;24654937;24778252;24816145;8125298;8488840;8563749;8889548;9042910;9074926;9299440;9736782;9811939 6949 B4DRA2;E7ETY2;H0Y8Y7;H0YA99;H0YAB7;J3KQ96;Q13428 AB209317;ABBA01026281;AC011372;AI419459;AI939467;AK096467;AK225284;AK296918;AK299167;AK303611;AK307586;AL133039;AMYH02012456;AMYH02012457;AMYH02012458;AW135418;AY460334;BC008331;BC011764;BC014559;BC016144;BC027252;BC033093;BM664489;BX537490;CH471062;DC377932;NG_011341;NM_000356;NM_001008657;NM_001135243;NM_001135244;NM_001135245;NM_001195141;U40847;U76366;U79659;U79660;U84664;XM_005268502;XM_005268503;XM_005268504;XM_005268505;XM_005268506;XM_005268507;XM_005268508;XM_005268509;XR_427778;XR_427779;XR_427780 AAB40722;AAC50903;AAC51181;AAC51185;AAH11764;AAH14559;AAH16144;AAH27252;AAH33093;AAR87774;BAD92554;BAG59473;BAG61214;BAG64623;CAB61367;EAW61732;EAW61733;EAW61734;EAW61735;EAW61736;EAW61737;EAW61738;EAW61739;NP_000347;NP_001008657;NP_001128715;NP_001128716;NP_001128717;NP_001182070;Q13428;XP_005268559;XP_005268560;XP_005268561;XP_005268562;XP_005268563;XP_005268564;XP_005268565;XP_005268566 Hs.519672;Hs.605019 1740483;1793210;1793212;1793214;1793216;1793218;1793220;1793222;1793224;1793226;1793228;1793230;1793232;1793234;1793236;1793238;1793240;1793242;1793244;1793246;1793248;1793250;1793252;1793254;1793256;1793258;1793260;2108561;5016478;5037552;5109281;5119421 D1S1425;D5S2276E;D5S2311E;D8S2279;GDB:434012;PMC20330P1;PMC20330P10;PMC20330P11;PMC20330P12;PMC20330P13;PMC20330P14;PMC20330P15;PMC20330P16;PMC20330P17;PMC20330P18;PMC20330P19;PMC20330P20;PMC20330P21;PMC20330P22;PMC20330P23;PMC20330P24;PMC20330P25;PMC20330P26;PMC20330P27;PMC20330P3;PMC20330P4;PMC20330P5;PMC20330P6;PMC20330P7;PMC20330P8;PMC20330P9;TCOF1_8669 MFD1;TCS;TCS1 OTTHUMP00000160560;OTTHUMP00000224041;OTTHUMP00000224042;OTTHUMP00000224043;OTTHUMP00000224044;OTTHUMP00000224077;OTTHUMP00000227678;OTTHUMP00000231643;Treacher Collins syndrome protein;nucleolar trafficking phosphoprotein;treacle APPROVED protein-coding ENSG00000070814 HGNC:11654 06026 154500;606847 REVIEWED 1343659 TCP10L t-complex 10-like ENCODES a protein that exhibits identical protein binding; protein self-association; repressing transcription factor binding; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH copper(2+) sulfate; fonofos; lead(0) 21 21 21 q22.11 19130781 19141475 - 33947151 33957845 - 32574841 32585535 - 6480464;8554872 10830953;12477932;14586771;14702039;15469726;15489334;15910542;17207965;17377852;17567994;19953087;20098747;21832049;21988832;23940030;24565846;8125298;8889548 140290 J3KTL9;Q8TDR4;Q9NV44;V9GY77;V9GYF3 ABBA01057319;AF115967;AK001794;AK058078;AK223529;AMYH02037725;AP000274;AP000275;BC022024;BC027970;BC033855;BG717680;BG721020;BI829783;BX111775;CB243926;CH471079;NM_144659 AAH27970;AAH33855;AAM18531;ADQ31627;BAA91915;BAB71653;BAD97249;EAX09869;NP_653260;Q8TDR4 Hs.728804 1698970;1759853;1798870;1799740;1801962;1802016;1802358;1804488;1805706;1809958;1817070;1833364;2021184;2021186;2021188;2021190;2021192;2021194;2021196;2021198;2021200;2021202;2021204;2021206;2021208;2021210;2021212;2021214;2021216;2021218;2021220;2021222;2021224;2021226;2021228;2021230;2021232;2021234;2021236;2021238;2021240;2021242;2021244;2021246;2021248;2021250;2021252;2021254;2021256;2021258;2021260;2021262;2021264;2021266;2021268;2021270;2021272;2021274;2021276;2021278;2021280;2021282;2021284;2021286;2021288;2100004;2100006;2100008;2100010;2100012;2100014;2100016;2100018 ECD00275;ECD00724;ECD01862;ECD01889;ECD02063;ECD03169;ECD03803;ECD05971;ECD09584;ECD17825;REN81576;REN81577;REN81578;REN81579;REN81580;REN81581;REN81582;REN81583;REN81584;REN81585;REN81586;REN81587;REN81588;REN81589;REN81590;REN81592;REN81593;REN81594;REN81595;REN81596;REN81597;REN81598;REN81599;REN81600;REN81601;REN81602;REN81603;REN81604;REN81605;REN81606;REN81607;REN81608;REN81609;REN81610;REN81611;REN81612;REN81613;REN81614;REN81615;REN81617;REN81618;REN81619;REN81620;REN81621;REN81622;REN81623;REN81624;REN81625;REN81626;REN81627;REN81630;REN81631;REN81632;RH103054;SHGC-170092;stSG606504;stSG606505;stSG606506;stSG606508;stSG606509;stSG606510;stSG606511;stSG606512 C21orf77;FLJ10932;MGC34297;PRED77;TCP10A-2 OTTHUMP00000067368;T-complex 10A-2;T-complex protein 10A homolog 2;T-complex protein 10A-2;TCP10-like;t-complex 10 (a murine tcp homolog)-like APPROVED protein-coding HGNC:11657 10518 608365 VALIDATED 1351114 TCP11 t-complex 11, testis-specific INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); spermatogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 6 6 6 p21.31 36640276 36663005 - 35085848 35109187 - 35118071 35141641 - 6480464;8554872 11756566;12477932;12545228;12905703;1427894;14702039;18391951;18654987;1893875;20098747;20546612;21597245;21832049;9322250 6954 B7ZAT8;D6R8Y5;D6R989;D6R9D8;D6R9R9;D6RAC0;D6RBE4;D6RFY8;D6RG02;D6RGC0;D6RGY5;D6RIW4;H0Y8T8;Q8WWU5 ABBA01038219;AF260330;AF269223;AF536532;AF536533;AK057234;AK098590;AK301778;AK301975;AK302022;AK302375;AK302456;AK315078;AK316403;AL138721;AMYH02013533;AMYH02013534;AY069943;BC033729;BC040003;BC048418;BC090050;BF507838;CH471081;DC395417;DC396535;HC007326;HC044687;NM_001093728;NM_001261817;NM_001261818;NM_001261819;NM_001261820;NM_001261821;NM_018679;XM_005249337;XM_005249338;XM_005249339;XM_006715172;XM_006715173 AAF75551;AAF91370;AAH33729;AAH40003;AAH48418;AAH90050;AAL58042;AAN04044;AAN04045;BAG37546;BAG51889;BAH13551;BAH13597;BAH13610;BAH13688;BAH13714;BAH14774;CBH19468;CBH30673;EAX03808;EAX03809;NP_001087197;NP_001248746;NP_001248747;NP_001248748;NP_001248749;NP_001248750;NP_061149;Q8WWU5;XP_005249394;XP_005249395;XP_005249396;XP_006715235;XP_006715236 Hs.435371 1697608;1798262 RH102315;TCP11_2623 D6S230E;FPPR;KIAA0229;MGC111103 OTTHUMP00000016244;OTTHUMP00000016245;OTTHUMP00000016246;OTTHUMP00000016248;OTTHUMP00000016249;OTTHUMP00000222639;OTTHUMP00000222650;OTTHUMP00000222658;T-complex protein 11 homolog;fertilization-promoting peptide receptor;t-complex 11 (a murine tcp homolog);t-complex 11 homolog APPROVED protein-coding ENSG00000124678 HGNC:11658 01749 186982 VALIDATED 1343977 TCP10L2 t-complex 10-like 2 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); bis(2-chloroethyl) sulfide (ortholog); choline (ortholog) 6 6 6 q27 168326422 168338734 + 167584081 167596396 + 167170593 167182908 + 6480464 401285 B9ZVM9;F5GYV4;J3QSS5 ABBA01033434;AL121935;AMYH02014976;CH471051;NM_001145121 B9ZVM9;EAW47503;EAW47504;NP_001138593 Hs.691976 1705006;1717721;2021218;2021220 REN81594;REN81595;RH121768;SHGC-78012 bA517H2.3 OTTHUMP00000239276;OTTHUMP00000239498;T-complex 10-like protein 2;putative t-complex protein 10A homolog 2 APPROVED protein-coding ENSG00000166984 HGNC:21254 18427 INFERRED 1602322 TCP11L1 t-complex 11, testis-specific-like 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN microtubule; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 11 11 11 p13 33207691 33241809 + 33060963 33095109 + 33039417 33079454 + 6480464;8554872 12477932;14702039;15342556;16344560;19953087;20098747;20205591;20360068;21832049;21890473;23000965;24489884;24816145 55346 B3KQZ4;E9PJ55;E9PMB0;E9PP52;E9PS88;H0YES4;Q9NUJ3;R4GNF5 ABBA01060898;AC131263;AK002198;AK021448;AK090646;AL121926;AMYH02024561;AX878356;BC030582;BC041696;BP281502;CH471064;DA088926;DA340843;NM_001145541;NM_018393;XM_006718256;XM_006718257;XR_428846 AAH41696;BAA92131;BAB13827;BAG52206;CAC48254;CAE90114;EAW68205;EAW68206;EAW68207;EAW68208;EAW68209;EAW68210;NP_001139013;NP_060863;Q9NUJ3;XP_006718319;XP_006718320 Hs.655341 1706942;1851719;2137318;2174300;2179567 A009A03;RH12753;RH17820;RH36621;SHGC-80964 FLJ11336;FLJ11386;dJ85M6.3 OTTHUMP00000229340;OTTHUMP00000229342;OTTHUMP00000229354;T-complex protein 11-like protein 1;t-complex 11 (mouse) like 1;t-complex 11-like 1 APPROVED protein-coding ENSG00000176148 HGNC:25655 07750 VALIDATED 1605554 TCP11L2 t-complex 11, testis-specific-like 2 INTERACTS WITH benzo[a]pyrene; copper atom; copper(0) 12 12 12 q23.3 106362190 106406396 + 106696570 106741365 + 106302031 106347587 + 6480464 12477932;21832049;22889924 255394 F8VRQ3;F8VU20;F8VW27;F8W0R5;F8W1M6;G3V1Z2;Q8N4U5 ABBA01053166;AC079174;AC080012;AF306671;AF306674;AF306858;AK314055;AMYH02027128;BC017872;BC033617;CH471054;NM_001286262;NM_152772;XM_005268766;XM_005268767;XM_005268768;XM_005268769;XM_006719323 AAH33617;ABM82241;ABM85425;BAG36762;EAW97774;EAW97775;EAW97776;EAW97777;EAW97778;EAW97779;NP_001273191;NP_689985;Q8N4U5;XP_005268823;XP_005268824;XP_005268825;XP_005268826;XP_006719386 Hs.696047;Hs.736922 1655472;1755383;2185781;5020948 G17664;G35510;RH70460;SHGC-142262 MGC40368 OTTHUMP00000242788;T-complex protein 11-like protein 2;t-complex 11-like 2 APPROVED protein-coding ENSG00000166046 HGNC:28627 17555 VALIDATED 7243979 TCP11X2 t-complex 11 family, X-linked 2 INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) X X 101715236 101726732 - 102460319 102471812 - 6480464 11566096;14702039 100996648 F2Z2N1;Q5H9J9 ABBA01020940;AC235565;AK093310;AK307893;AMYH02040152;AMYH02040153;AMYH02040154;AMYH02040155;CH471190;NM_001277423 EAW54742;NP_001264352 Hs.737538 T-complex protein 11 homolog protein-coding ENSG00000215029 HGNC:48335 VALIDATED 1348249 TCP1P1 t-complex 1 pseudogene 1 7 7 7 p14.1 42824905 42831008 + 42834504 42840607 + 42794905 42801008 + 12690205;9847074 647047 ABBA01058177;AC010132;AC027269;AMYH02015602;CH236951;NG_006549 EAL24003 2128864;5491382 D7S776;TCP1 CCT1-3P;TCP1L1 pseudo HGNC:11659 INFERRED 1351377 TCP1P2 t-complex 1 pseudogene 2 5 5 5 p13.1 41474272 41476486 - 41585778 41587992 - 41585676 41587890 - 6952 ABBA01024234;AC008817;AMYH02011221;NG_003036 CCT1-2P;TCP1L2 pseudo HGNC:11660 INFERRED 7244041 TCP11X1 t-complex 11 family, X-linked 1 X X 101470256 101485206 + 102215323 102225190 + 6480464 100996631 B4DZS4;F2Z2N1 AC234791;XM_006724723 XP_006724786 T-complex protein 11 homolog protein-coding HGNC:48369 MODEL 1354018 TCP1P3 t-complex 1 pseudogene 3 12 12 12 p12.2 25249264 25251174 + 20094133 20096043 + 19941199 19943109 + 19584346 400013 ABBA01067953;AC024901;AC087237;AMYH02026150;NG_021108 1857693;2191763 MARC_7185-7186:996687609:1;SHGC-36020 CCT1-1P;TCP1L3 pseudo HGNC:21630 INFERRED 1342729 TCTA T-cell leukemia translocation altered FOUND IN integral component of membrane (inferred); INTERACTS WITH isotretinoin; methyl methanesulfonate; paracetamol 3 3 3 p21 49414426 49418696 + 49449639 49453909 + 49412206 49416476 + 6480464 11181995;12477932;15231748;15489334;17207965;19560569;19692168;19913121;20046013;20628086;22174563;23275563;24250222;7728759;8889549 6988 P57738 AA181568;ABBA01024587;AC104452;AK000824;AK311839;AMYH02006751;BC005157;CB054963;CH471055;CR457411;EL954558;L41143;NM_022171 AAA97514;AAH05157;ADQ31822;BAG34781;CAG33692;NP_071503;P57738 Hs.517962 1796916;2162639;2162735;5015861;7185938 D10S16;NIB1593;STS-L41143;TCTA_269 OTTHUMP00000210789;T-cell leukemia translocation-altered gene protein;T-cell leukemia translocation-associated gene protein APPROVED protein-coding ENSG00000145022 HGNC:11692 15977 600690 VALIDATED 1604203 TCTE1 t-complex-associated-testis-expressed 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); cadmium dichloride (ortholog); clofibrate (ortholog) 6 6 6 p21.1 45801050 45818612 - 44247248 44265458 - 44280160 44297721 - 6480464;8554872 12477932;1916824;19773279;2568335;9570741 202500 Q5JU00;Q5JU01 AA732744;ABBA01050640;ABBA01050641;AK301825;AK304265;AL353588;AMYH02013657;AMYH02013658;BC035022;CH471081;NM_182539;XM_005248872;XM_005248873;XM_005248874;XM_006715009 AAH35022;ABM82437;ABM85628;BAG63271;BAG65128;EAX04266;NP_872345;Q5JU00;XP_005248929;XP_005248930;XP_005248931;XP_006715072 Hs.189183 D6S46;FAP155;FLJ50041;MGC33600;tcte-1 OTTHUMP00000016524;T-complex-associated testis-expressed protein 1 APPROVED protein-coding HGNC:11693 14568 186975 VALIDATED 1322136 TCTE3 t-complex-associated-testis-expressed 3 ENCODES a protein that exhibits motor activity (inferred); INVOLVED IN metabolic process (inferred); transport (inferred); FOUND IN cytoplasm (inferred); dynein complex (inferred); membrane (inferred); INTERACTS WITH cadmium dichloride; ethyl methanesulfonate; valproic acid 6 6 6 q27 170850390 170861813 - 170140215 170151638 - 169739984 169751542 - 6480464 12477932;12584439;1505969;21085971;21980299 6991 Q8IZS6 ABBA01016119;ABBA01016120;AF519569;AL354892;AMYH02015004;BC113639;CH471051;NM_174910;XM_006715554;XM_006725013 AAI13640;AAN34631;ADR83492;EAW47439;NP_777570;Q8IZS6;XP_006715617;XP_006725076 Hs.733746 MGC142199;TCTEX1D3;tcte-3 OTTHUMP00000017685;T-complex testis-specific protein 3;T-complex-associated testis-expressed protein 3;Tctex1 domain containing 3;tctex1 domain-containing protein 3 protein-coding ENSG00000184786 HGNC:11695 01747 186977 PROVISIONAL 1603544 TCTEX1D1 Tctex1 domain containing 1 INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; pirinixic acid 1 1 1 p31.3 65508109 65534705 + 67217978 67244730 + 66752457 66779047 + 6480464 12477932;14702039;16344560 200132 E9PI84;Q8N7M0 ABBA01074527;AI016360;AK098192;AK307100;AK307878;AL354978;AMYH02001195;BC106885;CH471059;DA520308;NM_152665;XM_006710425 AAI06886;BAC05257;EAX06517;EAX06518;EAX06519;EAX06520;NP_689878;Q8N7M0;XP_006710488 Hs.479226 1674404;1848857;2158229;5095750 D1S3166;D1S3352;G60212;WI-15116 FLJ40873;MGC125768;RP11-266I14.2 OTTHUMP00000010743;tctex1 domain-containing protein 1 protein-coding ENSG00000152760 HGNC:26882 08287 VALIDATED 1604497 TCTEX1D2 Tctex1 domain containing 2 INTERACTS WITH 17beta-estradiol; 2-methylcholine; benzo[a]pyrene 3 3 3 q29 194599369 194625623 - 196018090 196045165 - 196291219 196318294 - 6480464 12477932;20195357;21900206;22990118;24250222;8889548 255758 E7ER86;E7ESA3;F8WD40;Q8WW35 ABBA01033729;ABBA01033730;ABBA01033731;ABBA01033732;AC069257;AI298516;AMYH02008480;BC015348;BC021177;BM548106;BM983853;CK818899;NM_152773 AAH15348;AAH21177;NP_689986;Q8WW35 Hs.733180 MGC33212 OTTHUMP00000208454;tctex1 domain-containing protein 2 protein-coding ENSG00000213123 HGNC:28482 14554 VALIDATED 1606104 TCTEX1D4 Tctex1 domain containing 4 FOUND IN sperm flagellum; INTERACTS WITH (+)-catechin; choline (ortholog); flutamide (ortholog) 1 1 1 p34.1 43554460 43555837 - 45271580 45273378 - 44805908 44807706 - 6480464 12477932;16982625;21382349 343521 Q5JR98 ABBA01050907;AL592166;AMYH02000919;BC092499;DQ132441;NM_001013632;XM_005270819;XM_006710614 AAH92499;ABA06522;NP_001013654;Q5JR98;XP_005270876;XP_006710677 Hs.585137 1665001;1780204;2107943 CNK_2805;SHGC-154623;SHGC-74733 OTTHUMP00000010266;Tctex2 beta;novel Tctex-1 family domain-containing protein;protein N22.1;tctex-2-beta;tctex1 domain-containing protein 4 protein-coding HGNC:32315 15762 611713 PROVISIONAL 1605624 TCTN2 tectonic family member 2 This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 12 12 12 q24.31 123752100 123789208 + 124155660 124192950 + 123671113 123708403 + 6480464;8699517;7240710;8554872 12477932;14702039;15489334;16357211;19322201;20301500;20301743;21462283;21565611;21906983;22268729 79867 F5H6G0;Q96GX1 ABBA01060394;ABBA01060395;AC117503;AK023037;AK056924;AK292153;AMYH02027458;BC009112;BM997327;BQ774678;CH471054;DQ278870;NG_030442;NM_001143850;NM_024809;XM_005253623;XM_006719605 AAH09112;ABB90562;BAB14370;BAF84842;BAG51827;EAW98430;NP_001137322;NP_079085;Q96GX1;XP_005253680;XP_006719668 Hs.167165 1746269;1746347;5015404;5020740;5024413;5024756;5037552 D8S2279;G64591;G64592;L17705;L17809;L17877;RH80030 C12orf38;FLJ12975;MKS8;TECT2 Meckel syndrome, type 8;OTTHUMP00000239215;OTTHUMP00000239216;tectonic 2;tectonic-2 APPROVED protein-coding ENSG00000168778 HGNC:25774 07805 613846;613885 REVIEWED 1606246 TCTN1 tectonic family member 1 This gene encodes a member of the tectonic family of secreted and transmembrane proteins. The orthologous gene in mouse is required for formation of most ventral cell types. It functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.11 110678539 110713763 + 111051832 111086935 + 110614027 110649130 + 6480464;8699517;8554872 12477932;12975309;14702039;15342556;15489334;16357211;20301500;20301743;21725307 79600 A8MW34;B4DIB9;E9PIB8;E9PNE4;E9PR69;F8VQ12;F8VSB8;J3KPW2;Q2MV58;S4R2Y1;S4R339;S4R3G2;S4R3M8 ABBA01005115;ABBA01005116;ABBA01005117;AC002350;AC144522;AK024780;AK055891;AK092775;AK128417;AK295514;AK301732;AMYH02027189;AY358184;BC030993;BC033811;BC040113;BC044885;BC062611;BP275624;CA419765;CH471054;DN997186;DQ278868;NG_030381;NM_001082537;NM_001082538;NM_001173975;NM_001173976;NM_024549;XM_005253934;XM_005253935;XM_005253936;XM_006719594;XM_006719595;XM_006719596;XM_006719597;XM_006719598;XM_006719599;XM_006719600;XR_243021;XR_243022;XR_429116;XR_429117 AAH30993;AAH33811;AAH40113;AAH62611;AAQ88551;ABB90560;BAB15000;BAB71036;BAC03973;BAG58431;BAH13543;EAW97929;EAW97930;EAW97931;EAW97932;NP_001076006;NP_001076007;NP_001167446;NP_001167447;NP_078825;Q2MV58;XP_005253991;XP_005253992;XP_005253993;XP_006719657;XP_006719658;XP_006719659;XP_006719660;XP_006719661;XP_006719662;XP_006719663 Hs.211511 1651257;5014554;5015607 D11S3014;G02231;RH68803 FLJ21127;JBTS13;TECT1 OTTHUMP00000196113;OTTHUMP00000196114;OTTHUMP00000196115;tectonic 1;tectonic-1 APPROVED protein-coding ENSG00000204852 HGNC:26113 08636 609863 REVIEWED 1344799 TDD testicular 17,20-desmolase deficiency 6994 HGNC:11698 1313033 TCTN3 tectonic family member 3 This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012] 10 10 10 q24.1 91164350 91195122 - 97423153 97453900 - 95663396 95694143 - 6480464;8699517;7240710;8554872 12477932;12975309;14702039;15146197;15164054;15489334;16357211;16385451;20301500;20301743;22268729;22883145;8889548 26123 Q6NUS6 ABBA01021834;AI375376;AK075357;AK098295;AK128834;AK299141;AL050022;AL356632;AMYH02023582;AW517317;AY359022;BC009494;BC061582;BC068449;BI561516;BQ005427;BU188435;BU742551;CH471066;CN427798;DQ278872;NG_032953;NM_001143973;NM_015631;XM_005269690 AAH09494;AAH61582;AAH68449;AAQ89381;ABB90564;BAC05278;BAC11567;BAC87634;BAG61193;CAB43242;EAW49993;NP_001137445;NP_056446;Q6NUS6;XP_005269747 Hs.438991 1658273;1688022;1736144;2165545;2165547;2169219;2169884;2186386 A001X33;D10S1399E;G19757;HSC14E022;RH190;RH91800;WI-17750;WI-18689 C10orf61;DKFZp564D116;JBTS18;OFD4;TECT3 OTTHUMP00000020157;OTTHUMP00000198569;tectonic 3;tectonic-3 APPROVED protein-coding ENSG00000119977 HGNC:24519 12582 258860;613847;614815 REVIEWED 1346610 TDG thymine-DNA glycosylase The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008] 12 12 12 q24.1 104023344 104046415 + 104359593 104382656 + 103965815 103988878 + 1580863;2317355;6480464;6907045 9794235 10583946;10961991;11438542;11554300;11864601;11889051;11937636;12477932;12493755;12505994;12874288;14667819;15146197;15225156;15231748;15252450;15489334;15569683;15668625;15823533;15959518;1631061;16344560;16524884;16620772;16626738;16679534;16763556;17029639;17060459;17270163;17602166;17855402;17965616;18270339;18452947;18512959;18587051;18691969;18805789;18951877;19237606;19369898;19394292;19402749;19403629;19471022;19652917;19880517;20226869;20379614;20428781;20522537;20574454;20696907;21284855;21693764;21862836;21890473;21906983;21963094;21988832;22327402;22505724;22573813;22581838;22962365;23209024;23680598;23820384;23952905;24250222;24394593;24532795;24637324;24727457;24753249;24962565;25027693;6287922;8127859;8407958;8662714;9299239;9489705 6996 B4DI29;B4E127;F5H0I7;F5H539;G8JL98;H0YH18;Q13569 ABBA01053209;AC078819;AF545435;AI004247;AI452763;AK295387;AK299832;AK303631;AK309792;AK311673;AK313234;AL710869;AMYH02027089;AMYH02027090;BC001307;BC010945;BC019925;BC037557;BC071714;BC104477;CB047650;CH471054;CN274338;DB162106;DN601672;DQ786320;NM_003211;XM_005269125;XR_429113 AAH19925;AAH37557;AAI04478;AAN16399;BAG36045;BAG58341;BAG61699;BAG64639;EAW97727;EAW97728;EAW97729;NP_003202;Q13569;XP_005269182 Hs.584809 1684724;1687139;1688410;1690670;5117216 GDB:451803;RH48085;RH70430;RH76675;RH98792 hTDG G/T mismatch-specific thymine DNA glycosylase;OTTHUMP00000238748;OTTHUMP00000238750;OTTHUMP00000238751;OTTHUMP00000238752 APPROVED protein-coding ENSG00000139372 HGNC:11700 03251 601423 REVIEWED 1352791 TDGF1 teratocarcinoma-derived growth factor 1 This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 3 3 3 p21.31 46553783 46561683 + 46616045 46623953 + 46574555 46582463 + 1580863;6480464;6484113;7240710;8554872 10070255;10393436;10493495;11485994;11857442;11909953;12052855;12073012;12477932;12649175;12682303;12919325;12925698;14581455;14584041;15340161;16169070;16176936;16344560;16951234;16954206;17030617;17207965;17291450;17720976;17925387;17941089;18089557;18312357;1882841;19035567;19082438;19386982;19421146;19727905;19732464;19853938;19874624;20126975;20128024;20301702;20379614;20385969;20549704;20629020;21055389;21496809;21824804;21863025;21988832;22306319;22542493;23022962;23034635;23129342;23574716;24379580;24911146;2792079;7860072;8006041;8314343;8543395;9013573;9576836;9876177 6997 F5H1T8;P13385 ABBA01024712;AC104304;AK313319;AMYH02006673;AU125451;BC022393;BC067844;CH471055;CX755454;CX781482;CX785985;DA941183;M96955;NG_017049;NG_021214;NM_001174136;NM_003212;X14253 AAA61134;AAH22393;AAH67844;ACE87041;ADQ32262;BAG36124;CAA32467;EAW64773;EAW64774;NP_001167607;NP_003203;P13385 Hs.385870 1743099;5037552;5113829 D8S2279;GDB:252101;RH79926 CR;CRGF CRIPTO;Cripto-1;OTTHUMP00000164716;cripto-1 growth factor;epidermal growth factor-like cripto protein CR1 APPROVED protein-coding ENSG00000241186 HGNC:11701 01757 187395 REVIEWED 5134856 TDGF1P1 teratocarcinoma-derived growth factor 1 pseudogene 1 X X X 42392266 42392792 - 38254622 38255148 - 38395369 38395895 - 100421177 ABBA01047027;AF241726;AMYH02039171;NG_026672 pseudo HGNC:42350 INFERRED 1345274 TDGF1P2 teratocarcinoma-derived growth factor 1 pseudogene 2 2 2 2 q36.3 222503269 222504655 - 228733886 228735272 - 227869170 227870556 - 10393436;11181995 22816 ABBA01050169;AC073065;AMYH02005927;CH471063;NG_001244;Y09998 EAW70879 CR-2;CRIPTO-2;TDGF2 APPROVED pseudo HGNC:11702 INFERRED 1347488 TDGF1P3 teratocarcinoma-derived growth factor 1 pseudogene 3 The TDGF3 locus has characteristics of a retrotransposon, including lack of introns and a poly(A) sequence. [provided by RefSeq, Jul 2008] X X X q22.3 110243171 110245881 + 109763540 109766249 + 110520312 110523021 + 1580863;6480464 15772651;16954206;1882841;18835250 6998 P51864 ABBA01043395;AC000113;AF251549;AF251550;AMYH02040231;CH471120;M96956;NR_002718 AAA61135;AAB46353;AAG49538;AAG49539;EAX02658;P51864 Hs.592361 1689895;1691610;5015621;5037552;5113829 AL032578;D11S3732;D8S2279;RH79908;RH79926 CR-3;CRIPTO-3;CRIPTO3;TDGF1;TDGF2;TDGF3 CRIPTO APPROVED pseudo ENSG00000225366 HGNC:11703 PROVISIONAL 1350982 TDGF1P4 teratocarcinoma-derived growth factor 1 pseudogene 4 6 6 6 p25 5170363 5171427 + 3941512 3942254 + 3941278 3942020 + 10393436 22815 ABBA01021997;AL590004;AMYH02013006;NG_001243;Y09997 CR-4;CRIPTO-4;TDGF4 APPROVED pseudo HGNC:11704 INFERRED 1354457 TDGF1P5 teratocarcinoma-derived growth factor 1 pseudogene 5 8 8 8 q11.23 50976046 50976992 + 54985551 54986497 + 54072991 54073937 + 10393436 22814 ABBA01041736;AC100821;AMYH02017999;NG_001242;Y09996 CR-5;CRIPTO-5;TDGF5 APPROVED pseudo HGNC:11705 INFERRED 1352893 TDGF1P6 teratocarcinoma-derived growth factor 1 pseudogene 6 3 3 3 q22 134300603 134302099 + 135874390 135875886 + 136155548 136157044 + 10393436 22813 ABBA01059134;AC092991;AMYH02007737;NG_012350 CR-6;CRIPTO-6;TDGF6 APPROVED pseudo HGNC:11706 INFERRED 1342809 TDGF1P7 teratocarcinoma-derived growth factor 1 pseudogene 7 19 19 19 q13.2 36826810 36828684 + 40025099 40026973 + 39534459 39536333 + 10393436 100129080 ABBA01040733;AC011500;AMYH02036098;NG_012349 CR-7;CRIPTO-7;TDGF7 APPROVED pseudo HGNC:11707 INFERRED 8549002 TDGP1 thymine-DNA glycosylase pseudogene 1 12 12 12 p12.1 31102598 31105664 + 25956127 25959193 + 25803193 25806259 + 9847074 645233 ABBA01068026;AC019209;AMYH02026228;NG_009608 pseudo HGNC:49891 INFERRED 68531 TDO2 tryptophan 2,3-dioxygenase This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012] 4 4 4 q31-q32 154156425 154173133 + 156824845 156841558 + 155903693 155920406 + 1358595;1580863;2290313;2290190;2303721;6480464;6907045 10719243;3400092;7236232;8873217 11140838;11469796;12477932;12634647;14704851;14755447;15390107;15489334;16094384;16189514;16892178;17207965;18370401;19218188;19502010;19637229;19786962;2004780;20361220;21361337;21892828;21976023;22082147;22308364;23455924;23558111;23630570;24722188;8666386 6999 D6RA50;D6RB68;P48775 AA705255;ABBA01070177;ABBA01070178;AC093830;AK289418;AK307741;AMYH02010344;AMYH02010345;BC005355;BG616664;BX647341;CH471056;NM_005651;U32989 AAB08514;AAH05355;ACE86466;ACE87147;ADQ31785;BAF82107;EAX04884;EAX04885;EAX04886;NP_005642;P48775 Hs.183671;Hs.593955 1644851;1645986;1847955;2109927 A006M46;D4S3293;SHGC-50178;TDO2_8670 TDO;TO;TPH2;TRPO OTTHUMP00000220788;tryptamin 2,3-dioxygenase;tryptophan oxygenase;tryptophan pyrrolase;tryptophanase APPROVED protein-coding ENSG00000151790 HGNC:11708 01847 191070 REVIEWED 1347185 TDO2L1 tryptophan 2,3-dioxygenase-like 1 7000 HGNC:11709 1343478 TDH L-threonine dehydrogenase (pseudogene) This gene appears to be an evolving pseudogene of L-threonine 3-dehydrogenase (TDH). In both prokaryotes and eukaryotes, TDH catalyzes the first of two steps in one of two L-threonine degradation pathways. However, in human, the single gene with sequence similarity to TDH is not capable of encoding a functional TDH protein; the predicted protein lacks most of the C-terminus and parts of the NAD+ binding motif when compared to other species' TDH proteins. This suggests that the human gene is therefore a pseudogene. Transcripts of this gene are found in all tissues and alternatively spliced transcripts have been described. It is not known if these transcripts are translated, or if the possible protein product provides any functional role. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 10325172 10353989 + 11197146 11225961 + 11339637 11368452 + 1580863;6480464 11896452;12361482;12477932;19027726;3536927 157739 Q8IZJ6 ABBA01026881;AF131216;AJ301562;AK057762;AMYH02017438;AY101186;AY101187;BC074983;NR_001578 AAM50036;AAM50037;BAB71562;CAC82738;Q8IZJ6 Hs.583896 1676958;1713179;1791910;1791912 PMC131051P1;PMC131051P2;RH120376;RH93098 FLJ25033;SDR14E1P APPROVED pseudo ENSG00000154316 HGNC:15547 10264 615174 REVIEWED 1320052 TDP1 tyrosyl-DNA phosphodiesterase 1 The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform. [provided by RefSeq, Jul 2008] 14 14 14 q32.11 70469447 70558298 + 90421944 90511108 + 89955600 90044764 + 6480464;7240710;8554872;8699517 10521354;11572945;11839309;12023295;12244316;12470949;12477932;12508121;12618186;14702039;14761185;15111055;15248776;15489334;15494395;15647511;15744309;15811850;15920477;16141202;16775218;16935573;17081983;17118488;17478428;17576665;17600775;17707402;17948061;18270339;18347181;19471022;19505854;19604089;19851285;20009512;20097655;20301284;21041670;21139048;21252943;21276450;21628532;21906983;22155078;22375014;22415824;22939629;23536040;23852793;23913164;24183900;24250222;24335147;24355542;8889548 55775 B3KN41;E7EPD8;G3V2F4;G3V2J6;G3V2U6;G3V3Q0;G3V4W8;G3V554;G3V5B8;G3V5F9;G3V5H9;H0YJ44;H0YJL7;Q9BRS7;Q9NUW8 ABBA01030509;ABBA01030510;ABBA01030511;AF182002;AF182003;AK001952;AK023514;AK093235;AK315549;AL137128;AL832288;AMYH02029716;AMYH02029717;AMYH02029718;AMYH02029719;AX119001;BC006083;BC015474;BC107877;BM661793;BU849335;BX161451;CH471061;DQ367843;NG_009164;NM_001008744;NM_018319;XM_005267847;XM_005267848;XM_006720197;XM_006720198;XM_006720199;XM_006720200;XM_006720201 AAF65623;AAF65624;AAH06083;AAH15474;AAI07878;ABC79301;BAA91997;BAG37927;BAG51203;CAC38574;CAD61915;EAW81414;EAW81415;EAW81416;NP_001008744;NP_060789;Q9NUW8;XP_005267904;XP_005267905;XP_006720260;XP_006720261;XP_006720262;XP_006720263;XP_006720264 Hs.209945 1645616;1706054;1706952;1756135;1767674;2125846;2140695;2184856 G36046;RH44767;RH65069;SHGC-142938;SHGC-80062;SHGC-80973;STS-W60094;WI-12715 FLJ11090;MGC104252 OTTHUMP00000244881;OTTHUMP00000244883;OTTHUMP00000244885;OTTHUMP00000244892;tyr-DNA phosphodiesterase 1 APPROVED protein-coding ENSG00000042088 HGNC:18884 06226 607198;607250 REVIEWED 1348894 TDP2 tyrosyl-DNA phosphodiesterase 2 This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008] 6 6 6 p22.3-p22.1 25883542 25900457 - 24650205 24667115 - 24649977 24666887 - 1580863;6480464;8554872 10764746;10931946;11478795;12477932;12743594;14574404;14609633;14702039;15231748;15489334;16524884;17597587;18039968;18706885;19023331;19471022;19580783;19757154;19776380;19794497;20639865;20677014;21030584;21139048;21478903;21890473;21900206;21906983;21921940;21963094;21987572;21988832;22053931;22262880;22405347;22505724;22822062;22908287;23000965;23275563;23433115;23602568;24250222;24654937;24658003;24816145 51567 O95551;X6R5A3 ABBA01066538;AF201687;AF223469;AJ269473;AJ420495;AK002168;AK296623;AK298699;AK308836;AL031775;AMYH02013327;AY613922;BC017553;BC110375;CH471087;NM_016614 AAF64144;AAG35600;AAH17553;AAI10376;AAT09764;ABZ92143;BAA92119;BAG59230;BAG60857;CAB92966;EAW55458;EAW55459;NP_057698;O95551 Hs.403010 1644192;1644194;1691046;2110005;2164990 A001T03;G19612;RH36217;RH93934;TTRAP_9740 AD022;EAP2;EAPII;MGC111021;MGC9099;RP1-30M3.3;TTRAP;dJ30M3.3;hTDP2 5'-Tyr-DNA phosphodiesterase;5'-tyrosyl-DNA phosphodiesterase;ETS1-associated protein 2;ETS1-associated protein II;OTTHUMP00000016091;OTTHUMP00000016092;TRAF and TNF receptor associated protein;TRAF and TNF receptor-associated protein;VPg unlinkase;tyr-DNA phosphodiesterase 2;tyrosyl-RNA phosphodiesterase APPROVED protein-coding ENSG00000111802 HGNC:17768 05771 605764 REVIEWED 1343296 TDPX2 thioredoxin-dependent peroxide reductase 2 9 9 9 p22 12905122 12906068 - 12972559 12973505 - 12972560 12973506 - 8188254;8496166 7002 ABBA01065316;AL161449;AMYH02019176;NG_001201;X72297 1334533;1659968;1759057;1766793 D1S2391;D9S1687;SHGC-151112;SHGC-152122 PAGB pseudo HGNC:11711 INFERRED 1314584 TDRD1 tudor domain containing 1 This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] 10 10 10 q25.3 109668200 109721231 + 115939015 115992425 + 114179256 114232666 + 1580863;6480464;8554872 11279525;12477932;14702039;16385451;16712791;17474147;19156129;21139048;22360420;23319146;23555854;24457600 56165 H9KV62;H9KV63;Q9BXT4 ABBA01062982;AC022023;AF285606;AK024735;AK122916;AK304331;AL833340;AMYH02023848;AMYH02023849;BC035010;BC063133;BQ882979;BX648664;CB136029;CH471066;NM_198795;XM_005269978;XM_005269979;XM_006717920 AAH35010;AAH63133;AAK31985;BAB14982;BAG53796;BAG65177;EAW49476;EAW49477;EAW49478;EAW49479;EAW49480;NP_942090;Q9BXT4;XP_005270035;XP_005270036;XP_006717983 Hs.333132 1719975;1750273;1781244;2106707;5020627 G65770;RH123966;SHGC-112497;TDRD1__5233;stSG70243 CT41.1;FLJ21082 OTTHUMP00000020525;OTTHUMP00000020526;cancer/testis antigen 41.1;tudor domain containing protein 1;tudor domain-containing protein 1 APPROVED protein-coding ENSG00000095627 HGNC:11712 12047 605796 REVIEWED 1605585 TDRD10 tudor domain containing 10 ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH PhIP 1 1 1 q21.3 127546343 127592255 + 154474695 154520624 + 154502219 154548148 + 6480464;8554872 12477932;12975309;15489334;16710414;20379614 126668 Q5VZ19 ABBA01049487;ABBA01049488;ABBA01049489;AK302144;AL162591;AL592078;AL713777;AMYH02001925;AMYH02001926;AMYH02001927;AY358195;BC044864;BC100895;BC100896;BC100897;BC100898;CH471121;NM_001098475;NM_182499;XM_006711154;XM_006711155;XM_006711156 AAH44864;AAI00896;AAI00897;AAI00898;AAI00899;AAQ88562;BAG63516;CAD28538;EAW53194;EAW53195;EAW53196;NP_001091945;NP_872305;Q5VZ19;XP_006711217;XP_006711218;XP_006711219 Hs.387671 1692076;1699232;2117938;2125898;2152243 AL009352;AL033678;D1S2591;RH103197;STS-AA040089 DKFZp434M202;RP11-61L14.3 OTTHUMP00000035376;OTTHUMP00000035377;tudor domain-containing protein 10 protein-coding ENSG00000163239 HGNC:25316 13196 VALIDATED 2292096 TDRD12 tudor domain containing 12 ENCODES a protein that exhibits ATP binding (inferred); helicase activity (inferred); nucleic acid binding (inferred); INVOLVED IN DNA methylation involved in gamete generation (ortholog); fertilization (ortholog); gene silencing by RNA (ortholog); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH lead(0); lead(2+); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.11 29904299 29975332 + 33210679 33281714 + 32719773 32790808 + 6480464;8554872 11441184;12477932;12787504;14702039;20383146 91646 H3BU70;Q587J7 AB211063;ABBA01039601;ABBA01039602;AC008736;AC008805;AK023134;AMYH02035921;AMYH02035922;AMYH02035923;AMYH02035924;AMYH02035925;AMYH02035926;BC049000;BI769394;NM_001110822 AAI48520;BAD95490;NP_001104292;Q587J7 Hs.646351;Hs.729739 2143873;5022578;5037552 D1S1423;D8S2279;GDB:1318362 ECAT8;FLJ13072 ES cell associated transcript 8;ES cell-associated transcript 8 protein;putative ATP-dependent RNA helicase TDRD12;tudor domain-containing protein 12 protein-coding ENSG00000173809 HGNC:25044 VALIDATED 7207353 TDRD15 tudor domain containing 15 ENCODES a protein that exhibits hydrolase activity, acting on ester bonds (inferred); nucleic acid binding (inferred); INVOLVED IN metabolic process (inferred) 2 2 2 p24.1 21185941 21205599 + 21346484 21366144 + 21127601 21137982 + 18262040 100129278 B5MCY1 ABBA01045080;AC010872;AMYH02003377;EG328743;XR_425376;XR_427006;XR_431399 B5MCY1 Hs.651096 Tudor domain-containing protein 6;tudor domain-containing protein 15;tudor domain-containing protein 6-like protein-coding HGNC:45037 MODEL 1352694 TDRD4 tudor domain containing 4 1580863 54513 Q9NUY9 AK001907;NM_019038 HGNC:20613 1316056 TDRD5 tudor domain containing 5 INVOLVED IN DNA methylation involved in gamete generation (ortholog); P granule organization (ortholog); spermatid development (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN chromatoid body (ortholog); pi-body (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; fonofos 1 1 1 q25.2 152668657 152768022 + 179560748 179660407 + 179591613 179691272 + 1580863;6480464;8554872 12477932;14702039;15489334;16344560;16710414;17081983;18519826;19536175;20379614 163589 Q8NAT2 ABBA01027808;ABBA01027809;ABBA01027810;ABBA01027811;ABBA01027812;AK092142;AK126889;AK127370;AL160286;AL590987;AL691433;AMYH02002236;AMYH02002237;BC043368;BC065707;BC089387;BC130532;BC144058;BG771449;CH471067;DA418635;DB073297;NM_001199085;NM_001199089;NM_001199091;NM_001199092;NM_173533;XM_005244934;XM_005244935;XM_006711195 AAH43368;AAH89387;AAI30533;AAI44059;BAC03815;BAC86946;EAW91051;EAW91052;EAW91053;EAW91054;NP_001186014;NP_001186018;NP_001186020;NP_001186021;NP_775804;Q8NAT2;XP_005244991;XP_005244992;XP_006711258 Hs.197354;Hs.739186 1339279;1697674;1767015;2178721;5492072;7186924 AL009449;D1S215;RH102352;SHGC-152665;Tdrd5 FLJ34823;MGC163404;RP11-427G13.1;TUDOR3 OTTHUMP00000033192;OTTHUMP00000033193;tudor domain-containing protein 5 protein-coding ENSG00000162782 HGNC:20614 15483 VALIDATED 1320851 TDRD3 tudor domain containing 3 ENCODES a protein that exhibits chromatin binding; methylated histone binding; poly(A) RNA binding; INVOLVED IN regulation of RNA biosynthetic process; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN exon-exon junction complex; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 13 13 13 q21.2 41929733 42107133 + 60970591 61148013 + 60396457 60573879 + 1580863;6480464;9479148;9479163;8554872 23211769;24035451 11076863;11230166;11256614;11329013;12477932;14702039;15489334;15489336;16344560;16381901;18632687;18664458;21172665;21988832;22267201;22363433;22747683;23891004;24550385;24778252;24816145 81550 B1AMN9;F2Z2Y2;Q9H7E2 AA004370;ABBA01050216;AK023578;AK024660;AL354764;AL359920;AL512666;AMYH02028137;AMYH02028138;AMYH02028139;BC020604;BC030514;BC060876;BG191408;BG219444;BX537910;CH471124;DA440035;EU643838;NM_001146070;NM_001146071;NM_030794;XM_005266556;XM_005266557;XM_005266558;XM_005266560;XR_429220;XR_429221 AAH30514;AAH60876;ACC94142;BAB14950;CAD97894;CAL37786;EAW52079;EAW52080;EAW52081;EAW52082;NP_001139542;NP_001139543;NP_110421;Q9H7E2;XP_005266613;XP_005266614;XP_005266615;XP_005266617 Hs.525061 1647203;1661632;1682029;1686380;2113318 D13S1720;RH11258;RH47176;SHGC-13721;WI-14979 FLJ21007;RP11-459E2.1 OTTHUMP00000018483;OTTHUMP00000018485;tudor domain-containing protein 3 protein-coding ENSG00000083544 HGNC:20612 11625 614392 VALIDATED 1314293 TDRD6 tudor domain containing 6 INVOLVED IN spermatogenesis (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN chromatoid body (ortholog); cytoplasm (ortholog); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 6 6 6 p12.3 48208136 48224578 + 46655612 46672056 + 46687875 46704319 + 6480464;8554872 11181995;14574404;14702039;17215373;20811636;9610721 221400 H0Y590;O60522 ABBA01050615;AF039442;AK125838;AK131455;AL591242;AMYH02013687;AMYH02013688;BX648686;CH471081;CR936792;EF185284;NM_001010870;NM_001168359 AAC18034;AAI72752;ABM69146;BAG54254;CAI45997;EAX04300;NP_001010870;NP_001161831;O60522 Hs.656983 5022578 D1S1423 CT41.2;DKFZp781I1148;FLJ43850;NY-CO-45;SPATA36;TDR2;bA446F17.4 OTTHUMP00000016553;OTTHUMP00000016554;antigen NY-CO-45;cancer/testis antigen 41.2;spermatogenesis associated 36;tudor domain-containing protein 6;tudor repeat 2 protein-coding ENSG00000180113 HGNC:21339 18172 611200 VALIDATED 1350621 TDRD7 tudor domain containing 7 This gene encodes a component of cytoplasmic RNA granules which are involved in determining the fate of mRNAs. Mutation in this gene has been associated with pediatric cataracts. Mutation of the similar gene in mice has been associated with cataracts, glaucoma and a block in spermatogenesis. [provided by RefSeq, May 2011] 9 9 9 q22.33 70688547 70772637 + 100174302 100258407 + 97412020 97496125 + 737633;1580863;6480464;7240710;8554872 12477932 10727952;11527406;11903063;14603251;15489334;16189514;16713569;21139048;21436445;21988832;24250222;24435515;24816145 23424 Q8NHU6 AB025254;ABBA01042931;ABBA01042932;AK294488;AK301954;AK310227;AK314853;AL122110;AL449464;AL512590;AMYH02021307;AMYH02021308;AW268820;BC028694;CH471105;NG_028984;NM_014290;XM_006717025;XM_006717026 AAH28694;ABM85047;BAA76379;BAG37370;BAG57710;BAG63369;CAB59271;EAW58843;EAW58844;NP_055105;Q8NHU6;XP_006717088;XP_006717089 Hs.193842 2138143 G31522 CATC4;CTRCT36;KIAA1529;PCTAIRE2BP;RP11-508D10.1;TRAP OTTHUMP00000021745;PCTAIRE2-binding protein;tudor domain-containing protein 7;tudor repeat associator with PCTAIRE 2;tudor repeat associator with PCTAIRE-2 APPROVED protein-coding ENSG00000196116 HGNC:30831 11626 611258;613887 REVIEWED 1315843 TDRD9 tudor domain containing 9 ENCODES a protein that exhibits ATP binding (inferred); helicase activity (inferred); nucleic acid binding (inferred); INVOLVED IN DNA methylation involved in gamete generation (ortholog); fertilization (ortholog); male meiosis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (ortholog); piP-body (ortholog); INTERACTS WITH (-)-demecolcine; benzo[a]pyrene; ethyl methanesulfonate 14 14 14 q32.33 84449057 84573226 + 104394776 104519004 + 103928439 104052667 + 6480464;8554872 12477932;14702039;17554300;19308021;20414141;20549515;21254220;21963094;23443559 122402 H0YJJ2;Q86WA0;Q8NDG6 ABBA01048392;ABBA01048393;ABBA01048394;ABBA01048395;ABBA01048396;AK093483;AK097429;AK097699;AK125978;AL132712;AL136001;AL833915;AMYH02029935;AMYH02029936;AMYH02029937;AMYH02029938;AMYH02029939;AMYH02029940;BC016796;BC033662;BC042804;BC128057;BG719020;BU430972;NM_153046;U56244;XM_005267309;XM_006720019;XM_006720020 AAC25432;AAH16796;AAI28058;BAC04182;BAC05047;BAC05144;BAC86372;CAD38771;NP_694591;Q8NDG6;XP_005267366;XP_006720082;XP_006720083 Hs.21454 1647971;1701404;1853009;2106709;2124400;2125219;2126595;2139694;2168975 D14S940;G35366;G35533;G35566;G35706;G35738;G36281;RH104332;TDRD9__5236 C14orf75;DKFZp434N0820;FLJ36164;HIG-1;MGC135025;NET54 OTTHUMP00000202599;OTTHUMP00000246577;hypoxia-inducible HIG-1;putative ATP-dependent RNA helicase TDRD9;tudor domain-containing protein 9 protein-coding ENSG00000156414 HGNC:20122 15484 VALIDATED 6480274 TDRG1 testis development related 1 (non-protein coding) 6 6 6 p21.2 41899046 41900514 + 40346163 40347631 + 40378424 40379892 + 21243750;22123530;24595048 732253 ABBA01050766;AL591063;AMYH02013599;CH471081;DQ168992;NR_024015 AAZ82017;EAX04005 Hs.180197 1649168 SHGC-31264 LINC00532 ncrna ENSG00000204091 HGNC:43642 615676 PREDICTED 1602978 TDRP testis development related protein INVOLVED IN spermatogenesis; FOUND IN cytoplasm; nucleus; INTERACTS WITH carmustine; methylmercury chloride; temozolomide 8 8 8 p23.3 409563 463346 - 439790 495781 - 456462 545781 - 6480464 12477932;14702039;15146197;20170638;20379614;21646302;24250222;24667176 157695 Q86YL5 ABBA01007277;ABBA01007278;AC083964;AC090135;AC090691;AK126209;AMYH02017216;AY194292;BC033779;BC136248;BC136249;BX648606;CH471181;CN430635;DB461052;DR003272;FJ381685;NM_001256113;NM_175075;XM_006716231;XM_006716232;XM_006716233 AAI36249;AAI36250;AAO23974;ACJ10204;EAW51462;NP_001243042;NP_778250;Q86YL5;XP_006716294;XP_006716295;XP_006716296 Hs.289293 1663556;1680896;1721429;2142738;2156435;2171414;5095724 A002T47;Cda12a12;D8S1482;D8S2111;G59566;G59739;RH48093 C8orf42;DKFZp686J15216;FLJ44221;INM01;TDRP1;TDRP2 OTTHUMP00000224416;testis development-related protein;uncharacterized protein C8orf42 APPROVED protein-coding ENSG00000180190 HGNC:26951 13740 VALIDATED 1322527 TDRKH tudor and KH domain containing ENCODES a protein that exhibits RNA binding (inferred); INVOLVED IN DNA methylation involved in gamete generation (ortholog); fertilization (ortholog); male meiosis (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion (ortholog); pi-body (ortholog); piP-body (ortholog); INTERACTS WITH calcitriol; paracetamol; trichostatin A 1 1 1 q21 124858715 124877693 - 151742741 151763052 - 151770265 151790534 - 1580863;6480464;8554872 10767542;12477932;14702039;15489334;15955813;16344560;20877624;21139048;24457600;8125298 11022 B4DJ68;B7ZAG4;E9PKN8;E9PQX4;Q5SZR4;Q9Y2W6 ABBA01049404;AF119121;AF227192;AF227634;AK056402;AK225160;AK226092;AK295948;AK303063;AK316279;AL589765;AMYH02001888;AMYH02001889;BC022467;BC032690;CH471121;DA796638;NM_001083963;NM_001083964;NM_001083965;NM_006862;XM_005244853;XM_005244854;XM_005244856;XR_426761 AAD30971;AAF36701;AAF68379;AAI56178;AAI72470;ABM81748;ABM87751;BAG51697;BAG58730;BAG64180;BAH14650;EAW53408;EAW53409;EAW53410;EAW53411;NP_001077432;NP_001077433;NP_001077434;NP_006853;Q9Y2W6;XP_005244910;XP_005244911;XP_005244913 Hs.144439 1691020;1697320;1782912;1782916;2109929;5022613 D1S2120;RH102157;RH69511;SHGC-155176;SHGC-155178;TDRKH_9212 TDRD2 OTTHUMP00000015259;OTTHUMP00000015260;OTTHUMP00000015261;OTTHUMP00000015262;OTTHUMP00000015263;OTTHUMP00000232248;putative RNA binding protein;tudor and KH domain containing protein;tudor and KH domain-containing protein;tudor domain containing 2;tudor domain-containing protein 2 protein-coding ENSG00000182134 HGNC:11713 15485 609501 VALIDATED 1344942 TEAD2 TEA domain family member 2 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity; INVOLVED IN hippo signaling; FOUND IN nucleoplasm (inferred); nucleus (inferred); transcription factor complex (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper atom; copper(0) 19 19 19 q13.3 46710704 46732570 - 49843852 49865714 - 49340595 49362457 - 1580863;6480464 10518497;10934189;11358867;12477932;14702039;15489334;18579750;19322201;19324877;19913121;19953087;20368466;20628086;21890473;21906983;22939624;23000965;8702974;9889009 8463 M0R1A5;M0R290;Q15562 ABBA01032931;ABBA01032932;ABBA01032933;AC010524;AK093236;AK290736;AK300241;AL832240;AMYH02036316;BC007556;BC018803;BC051301;BG334109;CH471177;NM_001256658;NM_001256659;NM_001256660;NM_001256661;NM_001256662;NM_003598;X94440;XM_005259334;XM_006723423;XM_006723424;XM_006723425;XM_006723426;XM_006723427;XM_006723428;XM_006723429;XR_430214 AAH07556;AAH51301;ABM84089;ABM87459;BAC04104;BAF83425;BAG62008;CAA64214;EAW52469;EAW52470;EAW52471;EAW52472;EAW52473;NP_001243587;NP_001243588;NP_001243589;NP_001243590;NP_001243591;NP_003589;Q15562;XP_005259391;XP_006723486;XP_006723487;XP_006723488;XP_006723489;XP_006723490;XP_006723491;XP_006723492 Hs.515534 1670329;1677558;1796918;2144468 RH93092;STS-AA024912;TEAD2_1586;WI-15345 ETF;TEAD-2;TEF-4;TEF4 transcriptional enhancer factor TEF-4 protein-coding ENSG00000074219 HGNC:11715 601729 VALIDATED 1351522 TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor) This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010] 11 11 11 p15.2 12823287 13092362 + 12695969 12966284 + 12674422 12944737 + 1580863;6480464;7240710;8699517;8554872 10518497;10934189;11136726;11358867;11751932;12061776;12376544;12477932;12565854;12861002;14702039;14762206;15016762;15140898;15146197;17081983;18177740;1851669;18579750;18775765;19002168;19015275;19324877;19410955;20379614;20881960;21139048;21532573;21890473;21988832;22863277;23000965;23029054;23576552;23994529;24211586;24255178;24344135;7642633;7795606;8253797;8396764;8423815;8441689;8921372;9199327;9869635;9889009 7003 E9PKB7;H0YCZ6;H0YE88;H0YEJ9;P28347;Q59EF3 AB209858;ABBA01061126;ABBA01061127;ABBA01061128;AC013549;AC084859;AC107881;AI189919;AI199443;AK027342;AK075070;AK075176;AK075236;AK310928;AL035973;AL117450;AL133574;AL833289;AMYH02024345;AMYH02024346;AMYH02024347;BC026959;BC115398;BG720371;BU172369;CA420177;CH471064;CN420966;DR000961;M63896;NG_021302;NM_021961;X84839 AAB00791;AAI15399;BAD93095;EAW68520;EAW68521;NP_068780;P28347 Hs.655331 1335959;1336607;1338281;1339617;1340011;1685820;1696652;1736977;1753613;1782500;1798264;2113274;2113276;2130626;2147761;2151801;2154633;2169607;2179440;2181452;7183758;7185021;7187380 D11S1154;D11S1222;D11S1315;D11S1323;D11S1334;D11S2690;D11S4116;D11S4934;D11S4935;D11S902;G35333;RH36447;RH48654;RH66129;RH68897;RH75549;SHGC-107541;SHGC-70156;SHGC-82961;TEAD1_2044 AA;FLJ17970;NTEF-1;REF1;TCF-13;TCF13;TEAD-1;TEF-1 OTTHUMP00000231380;OTTHUMP00000231431;protein GT-IIC;transcription factor 13;transcriptional enhancer factor 1;transcriptional enhancer factor TEF-1 APPROVED protein-coding ENSG00000187079 HGNC:11714 01802 108985;189967 REVIEWED 1605719 TEAD4 TEA domain family member 4 This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008] 12 12 12 p13.3-p13.2 4682386 4763942 + 3068478 3149842 + 2959312 3040676 + 6480464;8554872 10518497;11358867;12477932;12861002;15520314;16189514;16344560;17652751;18579725;18579750;18840614;19324877;19471022;21169295;21169383;21540178;21693764;21890473;22433836;22652601;22761647;22843786;22996285;23000965;23496005;23576552;23780915;24325916;8125298;8662936;8702974;8921372;9889009 7004 D3DUQ6;H0Y7B0;H0YFF9;H0YFK0;H0YG62;H0YGS2;Q15561;Q53GI4 ABBA01048789;ABBA01048790;AC005911;AC125807;AC131234;AK222947;AMYH02025890;AMYH02025891;AMYH02025892;AY101179;BC015497;BM464237;BM555991;BX640921;CH471116;DA210894;DA886817;NG_029958;NM_003213;NM_201441;NM_201443;U63824;X94438 AAC50763;AAH15497;AAM89497;ABZ92031;BAD96667;CAA64212;CAE45959;EAW88872;EAW88873;EAW88874;EAW88875;NP_003204;NP_958849;NP_958851;Q15561 Hs.94865 1707304;2108563;2145108 RH70692;SHGC-79256;TEAD4_7887 EFTR-2;MGC9014;RTEF1;TCF13L1;TEAD-4;TEF-3;TEF3;TEFR-1;hRTEF-1B OTTHUMP00000238119;OTTHUMP00000238122;OTTHUMP00000238124;related transcription enhancer factor 1B;transcription factor 13-like 1;transcription factor RTEF-1;transcriptional enhancer factor 1-related;transcriptional enhancer factor 3;transcriptional enhancer factor TEF-3 APPROVED protein-coding ENSG00000197905 HGNC:11717 03421 601714 REVIEWED 732236 TEC tec protein tyrosine kinase The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008] 4 4 4 p12 48586515 48720532 - 48137800 48271814 - 48135783 48269797 - 1580863;6480464;6484113;6907045;8554872 10382746;10518561;10647781;10795735;10823839;11013262;11071635;11328862;11489907;11598012;11716489;11825908;11940595;12049818;12445832;12477932;12515866;12573241;14614854;14993283;15184383;15355990;15492005;15588985;16273093;16964398;18029348;18171525;18512796;18564921;19167335;19380743;19393603;19807924;19883687;19913121;19953087;20098747;20230531;20379614;20628086;21706016;21890473;22581839;2284097;23128233;23260110;24390342;24722985;7526158;7651724;7934162;8621063;8629002;8630736;8632917;8892607;9178903;9299487;9341160;9446655;9473212;9652744;9872994 7006 D6RB05;D6RB75;P42680 ABBA01014342;ABBA01014343;ABBA01014344;AC079118;AC098873;AMYH02009166;AMYH02009167;BC101711;BC101713;BC143487;CH471069;D29767;NM_003215;U34367;XM_005248123;XM_006714027 AAB60411;AAI01712;AAI01714;AAI43488;BAA06171;EAW93054;EAW93055;NP_003206;P42680;XP_005248180;XP_006714090 Hs.479670 1661173;1661434;1710534;1784968;1789687;2108565;2123566;2128983;2150969;2151651 D4S2738;D4S3131;D4S518;G34338;RH70608;RW11;SHGC-111508;SHGC-51527;SHGC-86308;TEC_8671 MGC126760;MGC126762;PSCTK4 OTTHUMP00000158787;tyrosine-protein kinase Tec APPROVED protein-coding ENSG00000135605 HGNC:11719 02786 600583 REVIEWED 1323117 TEAD3 TEA domain family member 3 This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and is involved in the transactivation of the chorionic somatomammotropin-B gene enhancer. Translation of this protein is initiated at a non-AUG (AUA) start codon. [provided by RefSeq, Jul 2008] 6 6 6 p21.2 36995352 37018841 - 35441374 35464884 - 35473597 35497084 - 1580863;6480464 10379887;10518497;11358867;11986313;12477932;12748276;12861002;14574404;15131259;15489334;16189514;16344560;18029348;18579750;19324877;21890473;21988832;23000965;23576552;24255178;9148898;9889009 7005 B5MCM0;H7C4A7;Q99594 ABBA01038234;AF142482;AK226144;AL022721;AL033519;AMYH02013541;AMYH02013542;BC010053;BC027877;BC091488;BQ719548;CH471081;DA856821;NM_003214;X94439 AAD29052;AAH10053;AAH27877;AAH91488;ADZ16064;CAA64213;EAX03835;EAX03836;EAX03837;EAX03838;NP_003205;Q99594 Hs.485205 1780418;1798266 AW125760;TEAD3_2532 DTEF-1;ETFR-1;TEAD-3;TEAD5;TEF-5;TEF5 OTTHUMP00000016261;OTTHUMP00000196695;TEA domain family member 5;Transcriptional enhancer factor TEF-5 (DTEF-1);transcriptional enhancer factor 5;transcriptional enhancer factor TEF-5 APPROVED protein-coding ENSG00000007866 HGNC:11716 04411 603170 REVIEWED 1601877 TECPR1 tectonin beta-propeller repeat containing 1 This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012] 7 7 7 q21.3 92539935 92575367 - 97844755 97881563 - 98215443 98252251 - 6480464;8554872 10718198;12477932;12690205;14702039;20562859;21795850;22342342 25851 C9J2A1;C9JEV4;C9JUV4;Q7Z6L1 AB037779;ABBA01045733;ABBA01045734;AC091654;AK027072;AK057048;AK057618;AK075074;AK292996;AL117495;AMYH02016322;AMYH02016323;AMYH02016324;BC012529;BC053591;BE616972;BQ009108;CH236956;CH471091;DA336445;NM_015395;XM_005250253;XR_428174 AAH12529;AAH53591;BAA92596;BAF85685;BAG51853;CAB55961;EAL23891;EAL23892;EAW76716;EAW76717;EAW76718;NP_056210;Q7Z6L1;XP_005250310 Hs.592281 2181554;5037552 D8S2279;RH48510 DKFZP434B0335;FLJ23419;FLJ90593 OTTHUMP00000205440;tectonin beta-propeller repeat-containing protein 1 protein-coding ENSG00000205356 HGNC:22214 08521 614781 REVIEWED 733590 TECR trans-2,3-enoyl-CoA reductase This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011] 4 19 19 p13.12 85160139 85188395 - 14640379 14676792 + 14529548 14565980 + 1298632;1580863;6480464;8699517;7240710;8554872 9653160 11042152;12477932;12482854;14702039;15489334;15847654;16196087;18781797;18976975;20937905;21139048;21145461;21163940;21182205;21212097;21890473;21906983;21963094;21987572;22118674;22505724;22939629;23000965;23246001;23455922;23464991;23602568;23956138;24163370;24220030;24250222;24457600;24654937;24816145;25027693;8944226 9524 B3KSQ1;B4DR74;M0QXM3;M0QXS1;M0R0N5;M0R2E5;M0R329;M0R372;M0R3C3;Q9NZ01 ABBA01029660;ABBA01029661;ABBA01029662;ABBA01029663;AC009004;AC010527;AC024585;AF038958;AF038959;AF222742;AK001416;AK094087;AK299134;AK315412;AMYH02035621;AMYH02035622;AMYH02035623;AMYH02035624;AMYH02035625;BC000174;BC002425;BC005384;BC005952;BC007801;BC013881;BC034484;BG705196;BT007179;CH471106;CR456892;DB491783;NG_028336;NM_138501;NR_038103;NR_038104;XM_006722945;XM_006722946;XM_006722947 AAC39872;AAC39873;AAF32373;AAH00174;AAH02425;AAH05952;AAH07801;AAH13881;AAP35843;ABM82875;ABM86061;ACE87841;ACT64571;BAG37802;BAG50909;BAG52813;BAG61186;CAG33173;EAW84434;EAW84435;NP_612510;Q9NZ01;XP_006723008;XP_006723009;XP_006723010 Hs.515642 1687325;2129685;2167529;2168763;2173505;2176816;2179691;5022322;5022450;5022578;5037552;5492303 D10S275;D11S2560;D1S1423;D8S2279;G34498;Gpsn2;RH70012;RH70771;RH92817;SHGC-24811;SHGC-24815;SHGC-50561 GPSN2;MRT14;SC2;TER glycoprotein, synaptic 2;synaptic glycoprotein SC2;very-long-chain enoyl-CoA reductase APPROVED protein-coding ENSG00000099797 HGNC:4551 17076 610057;614020 REVIEWED 1604717 TECRL trans-2,3-enoyl-CoA reductase-like ENCODES a protein that exhibits oxidoreductase activity, acting on the CH-CH group of donors (inferred); INVOLVED IN lipid metabolic process (inferred); oxidation-reduction process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); INTERACTS WITH cytarabine; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 q13.1 62604385 62735641 - 65142024 65275196 - 64276306 64409471 - 6480464;8554872 12477932;19913121;20379614;20628086;22446961;23726511;24144296 253017 D6RBZ3;E9PD39;H0Y9F0;Q5HYJ1 ABBA01022855;ABBA01022856;ABBA01022857;ABBA01022858;ABBA01022859;ABBA01022860;AC023110;AC023156;AK290606;AL833108;AMYH02009347;AMYH02009348;BC072463;BX647590;NM_001010874;XM_005265662;XM_005265663;XM_005265664;XM_005265665 AAH72463;BAF83295;CAI46063;CAI46109;NP_001010874;Q5HYJ1;XP_005265719;XP_005265720;XP_005265721;XP_005265722 Hs.227752 GPSN2L;MGC62104;SRD5A2L2;TERL OTTHUMP00000218713;OTTHUMP00000220145;glycoprotein, synaptic 2-like;steroid 5 alpha-reductase 2-like 2;steroid 5-alpha-reductase 2-like 2 protein protein-coding HGNC:27365 18104 VALIDATED 6484111 TECRP1 trans-2,3-enoyl-CoA reductase pseudogene 1 4 4 4 q21.3 85160122 85160686 - 87870690 87871257 - 86949538 86950105 - 442777 ABBA01063516;AC093827;AMYH02009663;NG_005327 2173505;2176816;2179691 RH70771;SHGC-24811;SHGC-50561 pseudo HGNC:44050 INFERRED 1316735 TECPR2 tectonin beta-propeller repeat containing 2 INVOLVED IN autophagy (inferred); cell death (inferred); ASSOCIATED WITH Areflexia (inferred); Autosomal recessive inheritance (inferred); Brachycephaly (inferred); INTERACTS WITH 5-azacytidine; atrazine; copper(2+) sulfate 14 14 14 q32.31 82883809 83023050 + 102829300 102968818 + 102362963 102502481 + 6480464;7240710;8699517;8554872 12477932;18029348;20301682;20562859;23176824;24816145;9205841 9895 O15040 AB002295;AB002327;ABBA01048475;ABBA01048476;ABBA01048477;ABBA01048478;ABBA01048479;AK127721;AK296395;AK299690;AL136293;AL137229;AMYH02029897;AMYH02029898;AMYH02029899;AMYH02029900;BC030791;BC136647;BC142667;BC142715;BC151230;BQ023338;CH471061;KF456013;NM_001172631;NM_014844;XM_005268246 AAI36648;AAI42668;AAI42716;AAI51231;BAA20757;BAA20787;BAC87100;BAG59063;BAG61595;EAW81787;EAW81788;EAW81789;EAW81790;NP_001166102;NP_055659;O15040;XP_005268303 Hs.195667 1671983;1678683;1729686;1738947;2117256;2120162;2156786;2175544;5019819 A003P27;A009Y10;Bdab1d07;D14S56;D14S795;G27983;G32972;G35530;RH98923 KIAA0297;KIAA0329;SPG49 OTTHUMP00000246828;tectonin beta-propeller repeat-containing protein 2 protein-coding ENSG00000196663 HGNC:19957 17184 615000;615031 VALIDATED 6484110 TECRP2 trans-2,3-enoyl-CoA reductase pseudogene 2 4 4 4 q28.1 122764559 122765661 - 125383913 125385015 - 124462758 124463860 - 391696 ABBA01044768;AC097474;AMYH02010034;NG_005322 pseudo HGNC:44051 INFERRED 1314106 TECTB tectorin beta This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing. [provided by RefSeq, Jul 2013] 10 10 10 q25-q26 107771025 107790599 + 114043213 114064793 + 112283455 112305035 + 1580863;6480464 12477932;15164054;15489334;16385451;20379614;22544735;22673945;7829101;9079715 6975 Q96PL2 ABBA01063006;AF312827;AL391986;AMYH02023815;AW021518;BC113497;BC113499;CH471066;NM_058222;XM_005270107 AAI13498;AAI13500;AAL12829;ADR82948;EAW49542;NP_478129;Q96PL2;XP_005270164 Hs.345485;Hs.348615 KIAA1560;MGC142057;MGC142059 OTTHUMP00000020488;beta-tectorin APPROVED protein-coding ENSG00000119913 HGNC:11721 16005 602653 VALIDATED 1606464 TEDDM1 transmembrane epididymal protein 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 1 1 1 q25.3 155478335 155480833 - 182367252 182369751 - 182398117 182400616 - 6480464;8554872 127670 Q5T9Z0 ABBA01027765;AJ515384;AL139344;AMYH02002270;CH471067;HC044647;NM_172000 CAD56348;CBH30653;EAW91123;NP_741997;Q5T9Z0 Hs.156977 EDDM9;Epdd1;HE9;RP1-223H12.2;TMEM45C OTTHUMP00000035521;epididymal protein 9;human epididymis-specific protein 9;putative membrane protein HE9;transmembrane protein 45C protein-coding ENSG00000203730 HGNC:30233 13642 VALIDATED 1320369 TECTA tectorin alpha The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008] 11 11 11 q22-q24 118132830 118220699 + 120973375 121062202 + 121102666 121191493 + 1599380;1599381;1580863;6480464;7240710;8554872;8699517 9590290;9949200 10196713;10987647;11333869;12162770;12746400;15319541;16718611;17136632;17431902;17661817;18022253;18575463;19005249;19056867;20142329;20301607;20739942;20947814;21368133;21520338;22037481;22544735;22718023;22877241;22995349;23936151;25008054;9106521;9150164;9503015;9718342 7007 O75443 ABBA01031310;ABBA01031311;ABBA01031312;AF055136;AF143331;AMYH02025682;AMYH02025683;AMYH02025684;AP000646;AP000826;CH471065;NG_011633;NM_005422;XM_005271653 AAC26019;AAI56466;AAI72509;EAW67516;EAW67517;EAW67518;NP_005413;O75443;XP_005271710 Hs.248162 1335187;1336203;1727395;1737673;2152115 D11S3276;D11S4089;D11S4107;G63105;RH48885 DFNA12;DFNA8;DFNB21 OTTHUMP00000195078;alpha-tectorin APPROVED protein-coding ENSG00000109927 HGNC:11720 03985 601543;602574;603629 REVIEWED 5144731 TEDDM2P transmembrane epididymal protein 2, pseudogene 1 1 1 q25.3 155521814 155522599 + 182410832 182411586 + 182441697 182442451 + 127671 ABBA01027765;AL139344;AMYH02002272;NG_030210 TEDDM1P1 APPROVED pseudo HGNC:42447 INFERRED 1345103 TEF thyrotrophic embryonic factor This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 22 22 22 q13.2 25569791 25601729 + 41763337 41795332 + 41367333 41399328 + 1580863;6480464 10591208;10799536;11258795;12477932;12805554;14702039;15461802;15489334;15665112;16344560;1916262;20396431;21347262;22257907;23138696;24581835;7835883;8639829;9891058 7008 B4DIH3;H0Y797;Q10587 AB051442;ABBA01055630;ABBA01055631;ABBA01055632;ABBA01055633;AK091916;AK295595;AK314906;AL008582;AL035659;AL122101;AMYH02038438;BC021980;BC039258;BC042476;BX537848;CH471095;CR456592;CR541827;DA213449;DA238847;DA243618;HM370396;NM_001145398;NM_003216;R38583;U06935;U44059 AAA81373;AAB06497;AAH39258;AAH42476;ABM84707;ABM92228;ADM86749;BAB33325;BAG37419;BAG52441;BAG58485;CAD97856;CAG30478;CAG46626;CAK54623;CAK54922;EAW60430;EAW60431;NP_001138870;NP_003207;Q10587 Hs.181159 1677124;1681338;1688219;1768685;1772569;2109931;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;RH11229;RH11259;RH66783;RH93258;TEF_8672;WI-20437 KIAA1655 OTTHUMP00000198829;OTTHUMP00000198830;thyrotroph embryonic factor APPROVED protein-coding ENSG00000167074 HGNC:11722 01783 188595 REVIEWED 1605945 TEFM transcription elongation factor, mitochondrial ENCODES a protein that exhibits DNA polymerase processivity factor activity; poly(A) RNA binding; INVOLVED IN DNA metabolic process; oxidative phosphorylation; transcription from mitochondrial promoter; FOUND IN mitochondrial matrix; mitochondrial nucleoid; mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 17 17 17 26146916 26154211 - 29226001 29233286 - 30898983 30906775 - 6480464 10843809;11468690;12477932;16169070;16344560;17632510;19291764;20562859;21145461;21278163;21890473;23080069;8125298 79736 J3KTG7;Q96QE5 ABBA01014978;ABBA01014979;AC091177;AC130324;AF086465;AJ314645;AK026382;AK225474;AK298495;AMYH02033285;BC009025;BC024328;BC064631;BC073169;BQ003763;CH471147;CR457360;DA647699;NM_024683;XM_006722084 AAH09025;AAH73169;BAB15468;BAG60703;CAC44534;CAG33641;EAW80290;EAW80291;EAW80292;NP_078959;Q96QE5;XP_006722147 Hs.317340 1655729;1666421;1854775;2121826;2135360 NIB2009;RH69288;RH78093;RH78333;SHGC-35907 C17orf42;FLJ22729;MGC24674 hypothetical protein LOC79736;transcription elongation factor of mitochondria APPROVED protein-coding HGNC:26223 08005 VALIDATED 732609 TEKT1 tektin 1 This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 6729093 6760865 - 6703300 6735077 - 6799981 6831741 - 1580863;6480464;8554872 11606253;12029069;12477932;15489334;18029348;20379614;20442750 83659 I3L122;I3L357;I3L3D4;Q969V4 ABBA01054838;AC034305;AF357879;AK292818;AK304345;AMYH02032877;BC014599;CH471108;NM_053285 AAH14599;AAL27695;ABM81705;ABM84864;BAF85507;BAG65189;EAW90284;EAW90285;NP_444515;Q969V4 Hs.462108 OTTHUMP00000128240;tektin-1 APPROVED protein-coding HGNC:15534 10611 609002 REVIEWED 1322323 TEKT2 tektin 2 (testicular) This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 34824094 34828294 + 36549676 36553877 + 36084075 36088276 + 1580863;6480464 11751288;12029069;12477932;15340058;15489334;16710414;18029348;18227105;23519396 27285 E9PRS9;H0YD25;Q9UIF3 AB033823;ABBA01023317;AF054910;AK313610;AL138787;AMYH02000775;BC022005;BC035620;CH471059;NM_014466;XM_005270753 AAC09343;AAH35620;ABM82968;ABM82984;ABM86160;BAA89350;BAG36373;EAX07391;EAX07392;NP_055281;Q9UIF3;XP_005270810 Hs.127111 5492283 Tekt2 TEKTB1;TEKTIN-T;h-tektin-t OTTHUMP00000008927;tektin-2;tektin-B1;testicular tektin B1-like protein APPROVED protein-coding ENSG00000092850 HGNC:11725 16410 608953 REVIEWED 1342531 TEK TEK tyrosine kinase, endothelial This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014] 9 9 9 p21 27037320 27158328 + 27109147 27230172 + 27109149 27230174 + 1578525;1578527;1578531;1578533;1601490;1601505;1580863;1578337;1578345;1601487;1601489;1601493;1601494;1601496;634324;1601510;6480464;6907045;7240710;8554872;8699517 11397875;11919509;12737621;12768384;12814387;13130465;14512515;15714275;15743796;16284088;16389943;16714360;16917117;16951510;8980225 10022833;10051567;10369874;10521483;10557082;10766762;10995770;11080633;11470823;11513602;11689432;11733376;11824375;11866538;11967990;12107410;12138242;12419314;12427764;12477932;12609966;12665569;12711329;12731667;12816861;12878859;12887596;1312667;14665640;14726409;14749497;14991531;14991534;15210451;15242771;15284220;15297853;15340161;15370298;15377998;15536413;15542434;15746084;15769741;15781448;15802272;15817662;15893672;15893943;15985432;16020388;16037627;16049136;16157706;16457819;16458662;16614513;16723371;16756945;16830384;16895971;16956819;16978237;16978614;17035633;17258205;17322632;17327411;17446561;17504972;17513791;17562701;17704802;17724803;17728252;17901375;18269030;18366015;18401423;18425119;18425120;18519826;18570117;18593464;18675456;18807212;18996102;19079259;19082594;19116766;19167335;19186995;19223473;19339208;19340004;19351722;19421150;19424712;19451274;19487284;19515812;19543148;19576253;19615361;19674970;19689429;19733541;19875484;19888299;19922791;20026268;20054548;20056911;20098747;20099495;20164029;20191124;20227369;20301733;20348331;20379614;20519501;20602615;20696814;21042788;21097670;21173154;21212269;21273558;21321379;21366713;21368233;21400522;21525162;21575447;21576085;21672190;21832049;21849906;21858161;21884204;21962923;22235284;22326430;22342979;22449617;22465760;22585576;22621187;22728324;22836649;22848540;22996814;23086340;23123737;23149917;23174599;23190105;23382691;23504320;23566851;23602568;23633549;23652985;23754070;23754286;23770419;23840065;23982963;24023872;24254563;24308939;24333662;7478529;7545683;7783168;7829101;7833915;7835909;8382358;8980223;8980224;9204896;9632797;9660821;9710115;9723709;9764820 7010 E5RIV9;Q02763;Q59HG2 AB086825;AB208796;ABBA01065130;ABBA01065131;AK291775;AK294887;AK295043;AK308447;AL133411;AL355432;AL355433;AMYH02019347;AMYH02019348;AMYH02019349;AW020953;BC035514;BU753127;CA392256;CH471071;DC322431;DC324016;EU826591;EU826592;H25908;L06139;NG_011828;NM_000459;NM_001290077;NM_001290078;XM_005251561;XM_005251562;XM_005251563 AAA61139;AAH35514;ABM83048;ABW03349;ACF47627;ACF47628;BAC45250;BAD92033;BAF84464;BAG57981;BAG58094;EAW58571;EAW58572;NP_000450;NP_001277006;NP_001277007;Q02763;XP_005251618;XP_005251619;XP_005251620 Hs.89640 1668076;1752667;1755577;2114142;2136860;5021638;5037291 G10657;RH68989;SHGC-106556;SHGC-12831;SHGC-142431;TEK;TEK_7888 CD202B;TIE-2;TIE2;VMCM;VMCM1;hTIE2;p140 TEK OTTHUMP00000021167;OTTHUMP00000227067;OTTHUMP00000227068;OTTHUMP00000227069;angiopoietin-1 receptor;endothelial tyrosine kinase;soluble TIE2 variant 1;soluble TIE2 variant 2;tunica interna endothelial cell kinase;tyrosine kinase with Ig and EGF homology domains-2;tyrosine-protein kinase receptor TEK;tyrosine-protein kinase receptor TIE-2 APPROVED protein-coding ENSG00000120156 HGNC:11724 02571 600195;600221 REVIEWED 1604519 TEKT4 tektin 4 INVOLVED IN cell projection organization (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene; cyclosporin A; 6-propyl-2-thiouracil (ortholog) 2 2 2 q11.1 89887633 89892969 + 95537188 95542568 + 94871433 94876829 + 6480464;8554872 12477932;14702039;15489334;15815621;16189514;17207965;22774605 150483 Q8WW24 AA626939;ABBA01003580;AC097374;AK097438;AK296678;AMYH02004297;BC021716;BI832036;CH471219;NM_001286559;NM_144705;XM_005263876 AAH21716;AAX88873;ADQ32428;BAG59275;EAX10701;EAX10702;NP_001273488;NP_653306;Q8WW24;XP_005263933 Hs.631517 MGC27019 OTTHUMP00000160945;tektin-4 protein-coding ENSG00000163060 HGNC:31012 14518 VALIDATED 1321573 TEKT3 tektin 3 This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 17 17 17 p12 15231709 15269545 - 15207129 15244958 - 15303812 15341641 - 1580863;6480464;8554872 11381029;12477932;14702039;14735490;15489334;19056867;8125298 64518 F5GZV8;F5H115;F5H4K1;F5H5M8;J3KPT7;Q9BXF9 ABBA01055041;AC005703;AF334676;AK057390;AK223534;AK314327;AMYH02033048;BC031688;CH471108;HC007328;KF456249;NM_031898 AAH31688;AAK15340;ABM82722;ABM85905;BAB71464;BAD97254;BAG36974;CBH19469;EAW89942;EAW89943;EAW89944;NP_114104;Q9BXF9 Hs.414648 1336435;1715733 D17S122;RH119313 FLJ32828 OTTHUMP00000064926;OTTHUMP00000064927;OTTHUMP00000236624;tektin-3;testicular microtubules-related protein APPROVED protein-coding ENSG00000125409 HGNC:14293 18173 612683 REVIEWED 2837580 TEKT4P1 tektin 4 pseudogene 1 Y Y q11.1 13309477 13314819 - 11153795 11159193 - 727768 ABBA01008949;AC134878;NG_023015 1694758;1786990;2111288;2153135 D17S837;G27368;G43582;SHGC-147299 pseudo HGNC:37711 INFERRED 6481919 TEKT4P3 tektin 4 pseudogene 3 2 2 131071513 131071984 - 130313940 130314411 - 100873355 ABBA01017956;AC068137;AMYH02004775;NG_032509 pseudo HGNC:42330 INFERRED 5132676 TEKT4P2 tektin 4 pseudogene 2 INTERACTS WITH copper atom; copper(0); copper(2+) sulfate 12 21 21 p11.2 378997 381086 - 9907189 9968593 - 9068356 9129760 - 6480464 12477932;14702039;15252450;15489334;15498874;15881666;16549056;17213182;21988832 100132288 AA453722;AA863253;ABBA01005983;ABBA01017938;AMYH02037503;AMYH02037504;BC008921;BC073934;CA414639;CR381535;CR392039;DT217039;NR_038327;NR_038328;NR_038329 AAH73934 Hs.487562 1694758;1786990;2111288;2153135 D17S837;G27368;G43582;SHGC-147299 FLJ00219;FLJ35473;FLJ39633;MGC90442;TEKT4P MAFIPL APPROVED pseudo ENSG00000188681 HGNC:40046 VALIDATED 1605283 TEKT5 tektin 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH fonofos; parathion; terbufos 16 16 16 p13.13 10890682 10958126 - 10721358 10788802 - 10627501 10694945 - 6480464;8554872 12477932;14702039;20379614;21822266;23568457 146279 I3L1F7;Q96M29 ABBA01006795;AC007595;AK057433;AMYH02031450;AMYH02031451;BC041081;BC130336;BC130338;CH471112;HC007330;NM_144674;XM_005255128 AAI30337;AAI30339;ADR83195;BAB71484;CBH19470;EAW85179;NP_653275;Q96M29;XP_005255185 Hs.143519 1680375;1761775 RH92336;SHGC-145739 CT149;FLJ32871;MGC163208;MGC163210 OTTHUMP00000160169;tektin-5 protein-coding ENSG00000153060 HGNC:26554 08736 PROVISIONAL 1348520 TELAB1 telangiectasia, benign 1 ASSOCIATED WITH Telangiectasia, Hereditary Benign (inferred) 7240710 338411 1336355 D5S641 HGNC:20680 187260 2801979 TEN1 TEN1 CST complex subunit C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009] 17 17 17 q25.1 70565337 70586706 + 73975298 73996667 + 75979217 76000586 + 6480464;8554872 12477932;14702039;16344560;19854130;20360068;22763445;23826127;24025336;8125298 100134934 K7EIL0;K7EJS2;K7EL09;Q86WV5 ABBA01028762;ABBA01028763;ABBA01028764;ABBA01028765;AC040980;AMYH02034003;BC047782;BX648576;DB216497;FJ790671;NM_001113324 AAH47782;ACY71128;NP_001106795;Q86WV5 Hs.593566 1684882 RH94374 C17orf106;DKFZp686C0493;DKFZp686G1463;FLJ39785;MGC54300 CST complex subunit TEN1;OTTHUMP00000163541;TEN1 telomerase capping complex subunit homolog;protein telomeric pathways with STN1 homolog;telomere length regulation protein TEN1 homolog;telomeric pathways in association with Stn1 number 1;telomeric pathways in association with Stn1, number 1 APPROVED protein-coding ENSG00000257949 HGNC:37242 613130 VALIDATED 1605097 TELO2 telomere maintenance 2 This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009] 16 16 16 p13.3 1755633 1772735 + 1543352 1560460 + 1493351 1510459 + 6480464 11157797;11230166;11256614;12477932;12670948;14702039;15345747;16169070;17353931;17384638;17643375;18029348;18160036;18995830;20371770;20427287;20562859;20801936;20810650;20864032;21078624;21139048;21415862;21890473;21906983;21963094;21987572;22505724;22615925;22797925;22863883;22939629;23383273;23956138;24657168;24816145;9734811 9894 B4DXS2;H3BRS3;H3BU45;Q9Y4R8 AB014583;ABBA01030305;ABBA01030306;AE006467;AK001786;AK302103;AL031705;AL080126;AL137394;AMYH02031232;AMYH02031233;BC017188;BC028332;BQ446656;CH471112;DB494123;NM_016111;XM_006720993;XR_429650 AAH17188;AAK61284;BAA31658;BAG50974;BAG63484;CAB45724;CAB70722;EAW85647;EAW85648;EAW85649;EAW85650;EAW85651;NP_057195;Q9Y4R8;XP_006721056 Hs.271044 1685554;2120328;2146472;2180063;5091489 RH47871;RH48557;RH77910;RH93126;STS-AA025090 CLK2;DKFZp434A073;FLJ10924;KIAA0683;TEL2 OTTHUMP00000041764;TEL2, telomere maintenance 2, homolog;protein clk-2 homolog;telomere length regulation protein TEL2 homolog APPROVED protein-coding ENSG00000100726 HGNC:29099 10016 611140 REVIEWED 6904337 TEN1-CDK3 TEN1-CDK3 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring TEN1 telomerase capping complex subunit homolog (S. cerevisiae) and cyclin-dependent kinase 3 (CDK3) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Oct 2011] 17 17 q 73975298 74002080 + 75979217 76005999 + 8554872;6480464 14702039;20967262 100529145 ABBA01028762;ABBA01028763;ABBA01028764;ABBA01028765;AC040980;AK097104;AMYH02034003;BX647274;NR_037709 Hs.706766 1684882;1739655 D17S1728E;RH94374 C17orf106-CDK3 APPROVED ncrna HGNC:44420 VALIDATED 1322097 TENC1 tensin like C1 domain containing phosphatase (tensin 2) The protein encoded by this gene belongs to the tensin family. Tensin is a focal adhesion molecule that binds to actin filaments and participates in signaling pathways. This protein plays a role in regulating cell migration. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 53088528 53106057 + 53440810 53458163 + 53047026 53064379 + 6480464;8554872 10470851;11792844;12470648;12477932;12606711;15117958;15817639;16273093;16713569;16951145;17006924;17190795;19194507;19440389;19747564;19895840;20069572;20678486;21139048;21461930;21527831;21743057;21765928;21988832;22019427;22645138;23233134;23455922;24722188 23371 F8VV64;H0YID7;Q63HR2;R4GMX1 AB028998;ABBA01008312;ABBA01008313;AC068888;AF417490;AF518728;AF518729;AK131320;AK172747;AL137564;AMYH02026510;AMYH02026511;BC054099;BC110854;BC129828;BC129829;BC131503;BC142668;BC142712;BC150259;BX647126;CA306931;CH471054;CR936725;NM_015319;NM_170754;NM_198316;XM_006719302;XM_006719303;XM_006719304 AAH54099;AAI10855;AAI29829;AAI29830;AAI31504;AAI42669;AAI42713;AAI50260;AAL14641;AAM74225;AAN03866;BAA83027;BAD18734;BAG54765;CAB70815;CAH56176;EAW96658;EAW96659;EAW96660;NP_056134;NP_736610;NP_938072;Q63HR2;XP_006719365;XP_006719366;XP_006719367 Hs.343334;Hs.6147 1782740;1855641;2106711;2136935;2137587;2159902;2175197;2191787 BCD2163;MARC_7649-7650:996688053:1;RH11261;RH44510;RH48612;SHGC-156083;TENC1__5237;WI-21011 C1-TEN;C1TEN;DKFZp686D13244;FLJ16320;KIAA1075;TNS2 C1 domain-containing phosphatase and tensin homolog;OTTHUMP00000241959;OTTHUMP00000242033;OTTHUMP00000242038;OTTHUMP00000242045;OTTHUMP00000242102;OTTHUMP00000242137;tensin 2;tensin like C1 domain-containing phosphatase;tensin-2;tensin-like C1 domain-containing phosphatase APPROVED protein-coding ENSG00000111077 HGNC:19737 16256 607717 REVIEWED 1350445 TENM1 teneurin transmembrane protein 1 The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X q25 123894317 124482247 - 123509753 124097666 - 124375903 124963817 - 1580863;6480464;8554872 10331952;10341219;10556288;10737800;12000766;12477932;12915301;14702039;15146197;15772651;15777793;16344560;21651764;22271700;22610502;22952603;23898208;24058526;9771704 10178 B7ZMH4;Q9UKZ4 ABBA01036460;ABBA01036461;ABBA01036462;ABBA01036463;ABBA01036464;ABBA01036465;ABBA01036466;ABBA01036467;ABBA01036468;ABBA01036469;ABBA01036470;ABBA01036471;ABBA01036472;ABBA01036473;ABBA01036474;ABBA01036475;ABBA01036476;ABBA01036477;ABBA01036478;ABBA01036479;ABBA01036480;ABBA01036481;ABBA01036482;ABBA01036483;ABBA01036484;ABBA01036485;ABBA01036486;ABBA01036487;ABBA01036488;ABBA01036489;ABBA01036490;ABBA01036491;ABBA01036492;ABBA01036493;ABBA01036494;ABBA01036495;ABBA01036496;ABBA01036497;ABBA01036498;ABBA01036499;ABBA01036500;ABBA01036501;ABBA01036502;ABBA01036503;ABBA01036504;ABBA01036505;ABBA01036506;ABBA01036507;ABBA01036508;ABBA01036509;ABBA01036510;ABBA01036511;ABBA01036512;ABBA01036513;ABBA01036514;ABBA01036515;ABBA01036516;ABBA01036517;ABBA01036518;ABBA01036519;AF100772;AI498402;AK055765;AL022718;AL023774;AL023878;AL031075;AMYH02040425;AMYH02040426;AMYH02040427;AMYH02040428;AMYH02040429;AMYH02040430;BC030766;BC140783;BC144542;BC144543;BE700315;BX457474;BX478232;BX506934;CF454574;CH471107;CN305715;DA217223;HE578281;KF459332;KF459333;KF459334;KF459335;KF459336;KF459337;KF459338;KF459339;KF459342;KF510627;NG_013249;NM_001163278;NM_001163279;NM_014253;XM_006724725;Z81008;Z83823;Z85995;Z97629 AAF04723;AAI40784;AAI44544;CCD17865;EAX11846;NP_001156750;NP_001156751;NP_055068;Q9UKZ4;XP_006724788 Hs.23796;Hs.744536 1340698;1648807;1694358;1694364;1694370;1701168;1702616;1748101;1748143;1781208;1781214;1789166;1796428;1855856;2126897;2130679;2133203;2147294;2148746;2153170;2156421;2160601;2165165;2176305;2176324;2177628;2182605;2184982;5092588;5092590;5092596;5094104;5094106;5095080 A007A29;AF020119;DXS1183;DXS1315;DXS7144;DXS7745;DXS7749;DXS7771;DXS7877;DXS8057;DXS8356;G42874;G42877;G42880;G54527;G54529;G54532;G54548;G54549;G65722;G66645;G66680;L77308;L77319;L77750;L77754;ODZ1;ODZ1_364;RH104212;RH71468;SHGC-60255;STS-T61382;stSG26602;stSG38425 ODZ1;ODZ3;TEN-M1;TNM;TNM1;ten-1 OTTHUMP00000024333;odz (odd Oz/ten-m, Drosophila) homolog 3;odz, odd Oz/ten-m homolog 1;odz, odd Oz/ten-m homolog 1(Drosophila);protein Odd Oz/ten-m homolog 1;tenascin M1;tenascin-M1;teneurin 1;teneurin-1 APPROVED protein-coding ENSG00000009694 HGNC:8117 06669 300588 REVIEWED 732274 TENM2 teneurin transmembrane protein 2 ENCODES a protein that exhibits cell adhesion molecule binding; receptor binding; protein heterodimerization activity (ortholog); INVOLVED IN axon guidance; calcium-mediated signaling using intracellular calcium source; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell-cell junction; plasma membrane; cell junction (ortholog); INTERACTS WITH arsenous acid; benzo[a]pyrene; bisphenol A 5 5 5 q34 162750499 163726534 + 166406083 167691162 + 166979078 168264157 + 6480464;8554872 10225957;10574461;10625539;10737800;12783990;14702039;15372022;17081983;18927281;20379614;21139048;22229870;22610502;22699663;23000965;23636237 57451 F5H2D1;F8VNQ3;G3V106;H7BYZ1;Q9NT68 AB032953;ABBA01044133;ABBA01044134;ABBA01044135;ABBA01044136;ABBA01044137;ABBA01044138;ABBA01044139;ABBA01044140;ABBA01044141;ABBA01044142;ABBA01044143;ABBA01044144;ABBA01044145;ABBA01044146;AC008464;AC008601;AC008607;AC008634;AC008637;AC008642;AC008705;AC008708;AC011369;AC011384;AC026689;AC026729;AC091819;AC091820;AC093304;AC113372;AK056053;AK293262;AK302302;AL137500;AMYH02012685;AMYH02012686;AMYH02012687;AMYH02012688;AMYH02012689;AMYH02012690;AMYH02012691;AMYH02012692;AMYH02012693;AMYH02012694;AMYH02012695;AMYH02012696;AMYH02012697;AMYH02012698;BF950845;BQ774782;BX648178;CR936703;HE578282;HE578283;HE610428;JN857074;JN857076;KC877165;KC877176;KF458051;KF458054;KF458056;NM_001122679;XM_005265950;XM_005265952;XM_006714897;XM_006714898 AAI72353;BAA86441;BAG56794;BAG63642;CAB70774;CCD17866;CCD17867;CCE46200;NP_001116151;Q9NT68;XP_005266007;XP_005266009;XP_006714960;XP_006714961 Hs.631957 1331600;1335175;1335954;1340536;1650239;1651531;1663462;1664113;1670888;1694798;1695486;1695970;1707450;1717271;1749127;1749739;1753405;1760889;1761667;1763305;1769180;1781064;1781070;1781074;1785368;1785508;1847014;1856843;2135735;2146920;2149519;2168516;2170225;2170286;2172706;2183582;2185608;2186691;2217684;5014876;7183795 A004A45;CHLC.GCT10G10;D5S1458;D5S1471;D5S1888;D5S2458;D5S496;D5S619;D5S805;G16914;G18151;G19199;G28629;G43625;L18086;ODZ2_3320;RH11035;RH122050;RH77908;RH78971;SHGC-107168;SHGC-110807;SHGC-111408;SHGC-13056;SHGC-132122;SHGC-13752;SHGC-144555;SHGC-145647;SHGC-147036;SHGC-154041;SHGC-23892;SHGC-68636;SHGC-78928;SHGC-84519;WI-22163;WI-22532;WI-3815;bac5967T;bac5977T;bac5992T DKFZp686A1568;ODZ2;TEN-M2;TNM2;ten-2 OTTHUMP00000222933;OTTHUMP00000222980;OTTHUMP00000225219;neurestin alpha;odd Oz/ten-m homolog 2;odd oz/ten-m homolog 2 (drosophila);odz, odd Oz/ten-m homolog 2;tenascin-M2;teneurin 2;teneurin-2 APPROVED protein-coding ENSG00000145934 HGNC:29943 610119 INFERRED 1312224 TENM4 teneurin transmembrane protein 4 ENCODES a protein that exhibits protein homodimerization activity (ortholog); INVOLVED IN central nervous system myelin formation (ortholog); positive regulation of gastrulation (ortholog); positive regulation of myelination (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (ortholog); neuron projection (ortholog); nucleus (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; copper atom 11 11 11 q14.1 75672814 76460814 - 78364328 79152014 - 78653283 79440651 - 6480464;8554872 10625539;10718198;12000766;12168954;14702039;16554811;17903297;18711365;20379614;20602751;21145461;21926972;23251661;23393555;23453885;23991058;24648313 26011 E9PPG4;H0YCJ4;H0YCW4;Q6N022 AB037723;ABBA01017397;ABBA01017398;ABBA01017399;ABBA01017400;AK023935;AK056531;AK127101;AK127705;AK309124;AL080120;AMYH02025154;AMYH02025155;AMYH02025156;AMYH02025157;AMYH02025158;AMYH02025159;AMYH02025160;AMYH02025161;AMYH02025162;AMYH02025163;AMYH02025164;AP000610;AP001547;AP001838;AP002515;AP002768;AP002957;AP002958;BX537983;BX640737;DR000247;EG328205;HE578286;HE578287;HE601753;JN857068;KC877439;KF511160;NM_001098816;XM_006718498 AAI72403;AEW27159;BAA92540;BAB71206;CAB45719;CAD97943;CAE45850;CCD17870;CCD17871;CCE12274;NP_001092286;Q6N022;XP_006718561 Hs.213087 1334993;1338869;1338980;1340922;1650827;1661125;1680208;1683315;1695812;1695926;1719405;1729678;1731555;1737067;1737661;1738163;1750841;1754301;1756765;1757475;1763359;1765735;1766265;1766555;1774549;1776510;1782280;1848950;1849877;2111388;2115898;2121049;2125499;2154041;2165574;2173990;2174700;2217686;7185109;7186123 AFM203vg1;AFMa140wa9;D11S1027;D11S1262;D11S1281;D11S1352;D11S1976;D11S2226E;D11S2380;D11S2821;D11S3268;D11S3794;D11S3968;D11S4166;D11S4172;D11S4620;D11S4656;D11S862;D11S918;D11S980E;ODZ4_3312;RH123483;RH91134;SHGC-104507;SHGC-112402;SHGC-132323;SHGC-143894;SHGC-144849;SHGC-147083;SHGC-149167;SHGC-149621;SHGC-149869;SHGC-30999;SHGC-78882;SHGC-82573;STS-M55683;STS-T94418;WI-21054 Doc4;FLJ99165;ODZ4;TNM4;Ten-M4;ten-4 OTTHUMP00000234170;odd Oz/ten-m homolog 4;odz, odd Oz/ten-m homolog 4;tenascin-M4;teneurin-4 APPROVED protein-coding ENSG00000149256 HGNC:29945 610084 VALIDATED 1315371 TENM3 teneurin transmembrane protein 3 ENCODES a protein that exhibits protein heterodimerization activity (ortholog); protein homodimerization activity (ortholog); INVOLVED IN camera-type eye morphogenesis; homophilic cell adhesion via plasma membrane adhesion molecules (ortholog); positive regulation of neuron projection development (ortholog); ASSOCIATED WITH Autosomal recessive inheritance (inferred); Iris coloboma (inferred); Lung Neoplasms (inferred); FOUND IN membrane (ortholog); INTERACTS WITH 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine 4 4 4 q35.1 180576661 181055801 + 183065112 183724177 + 182144703 182803024 + 6480464;8699517;8554872 10331952;10625539;10819331;11932239;14671302;14702039;15231748;15815621;20379614;21906983;22766609;22885689;22952603;23382691;24058526;24839885 55714 D6RGC5;H0YAF0;Q9P273 AB040888;ABBA01070489;ABBA01070490;ABBA01070491;ABBA01070492;ABBA01070493;AC079226;AC093601;AC105288;AC108142;AC109353;AC131943;AF195420;AF484565;AK001336;AK001748;AK027473;AK125869;AK308489;AMYH02010622;AMYH02010623;AMYH02010624;AMYH02010625;AMYH02010626;AMYH02010627;AMYH02010628;AMYH02010629;AMYH02010630;AY405420;AY726602;AY736855;CH471056;HE578284;HE578285;KF457841;NM_001080477;XM_006714256;XM_006714257;XM_006714258 AAF28318;AAU84915;BAA91633;BAA91879;BAA95979;BAB55138;CCD17868;CCD17869;EAX04702;NP_001073946;Q9P273;XP_006714319;XP_006714320;XP_006714321 Hs.130438 1299897;1696236;1712703;1712765;1735416;1846648;2119757;2125208;2145986;2160488;2162002;2183622 D4S1109;D4S2560E;D4S2592E;D4S3015;D4S600;D4S920;RH120096;RH121048;RH66442;SHGC-33237;SHGC-59689;SHGC-83594 FLJ10474;FLJ10886;KIAA1455;MCOPCB9;ODZ3;TNM3;Ten-m3;ten-3 ODZ3-like protein;OTTHUMP00000218729;odd Oz/Ten-m homolog 3;odz, odd Oz/ten-m homolog 3;tenascin-M3;teneurin-3 APPROVED protein-coding ENSG00000218336 HGNC:29944 610083 PROVISIONAL 1602955 TEPP testis, prostate and placenta expressed ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog) 16 16 16 q21 42507657 42519348 + 58010339 58022020 + 57976435 57988116 + 6480464;8554872 12477932;14652002 374739 Q6URK8 ABBA01025288;AC010543;AMYH02032112;AY363222;AY363223;BC104458;BC104459;BF980073;BX647108;CH471092;NM_199046;NM_199456 AAI04459;AAI04460;AAR18688;AAR18689;EAW82959;EAW82960;NP_950247;NP_955535;Q6URK8 Hs.132976 MGC129930;MGC129931 OTTHUMP00000164668;testis, prostate and placenta-expressed protein;testis/prostate/placenta-expressed protein protein-coding HGNC:33745 15486 610264 VALIDATED 1353130 TERC telomerase RNA component Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008] 3 3 3 q26 167881540 167881990 - 169482398 169482848 - 169764610 169765060 - 2291968;2291974;2291964;2291967;2291975;2291972;2291970;2291966;2298557;2291986;2291969;2291973;2291965;2291971;6480464;7240710;8554872;8699517 10570439;11051224;11156238;12237877;14532990;14614009;14654933;15793301;16104909;16172460;16841302;17054308;17644139;9857231 10458601;10591218;10721988;10973255;10983983;11511096;11574891;11788719;11942411;12083802;12090986;12135483;12174094;12384594;12477932;12496479;12507925;12514136;12525685;12586348;12661034;12676774;12918126;12972604;14981093;15098033;15319288;15329831;15339688;15381700;15481329;15613268;15749017;15753647;15849264;15921388;16036112;16047476;16170363;16284252;16319170;16332973;16990594;17098743;17150759;17150918;17395830;17465827;17625368;17640862;17889661;17889662;17936651;17940095;17959928;18054989;18082603;18358808;18500353;18593932;18632625;18635888;18683270;18931339;18936525;18950640;19095616;19106100;19147845;19191295;19389503;19656952;19760749;19880826;19915151;19942288;20009881;20056641;20121548;20139977;20148555;20193234;20193600;20301408;20301779;20421499;20554853;20619302;20885959;20920335;20937264;21149580;21168289;21304559;21381227;21448143;21573004;21708826;21734364;22085966;22136229;22238380;22304389;22323451;22390679;22527283;22661914;22772461;22800828;22847419;22855562;22909227;23001564;23317107;23441130;23535734;23613627;23634750;23669440;23900074;23907815;23955597;24067943;24163127;24441772;24601523;24737583;24750833;7544491;8602368;9143511;9546436 7012 ABBA01058705;AC078802;AF047386;AF221907;AMYH02008099;BC128029;HG496297;NG_016363;NR_001566;U85256;U86046 Hs.436182 1791338;1792338;1792444;1792574;1794754;1795066;1795068;2112704;2220540 D3S4415;PMC104358P1;PMC14826P1;PMC15121P1;PMC154048P3;PMC37545P1;PMC96692P1;PMC96692P2;UniSTS:484241 DKCA1;PFBMFT2;SCARNA19;TR;TRC3;hTR APPROVED ncrna ENSG00000270141;ENSG00000277925 HGNC:11727 127550;602322;614743 REVIEWED 736009 TEP1 telomerase-associated protein 1 This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 694983 742708 - 20833826 20882331 - 20365667 20414172 - 1580863;6480464;8554872 10551828;10597287;10810353;11029039;11942411;12135483;12477932;12918126;14606063;15169895;15701761;16713569;17848914;18676680;18938767;19170196;19329795;19625176;19692168;19766477;19913121;20628086;20800603;20937264;21048031;21139048;22939629;23739867;24269974;7876352;9020079;9389643;9403057;9837921 7011 B4E0B6;G3V2A4;G3V470;G3V591;G3V5X7;H0YIY9;H0YIZ2;H0YJ53;H0YJF6;H0YJP8;Q99973 AB209669;ABBA01061225;ABBA01061226;ABBA01061227;AK303307;AL355075;AMYH02028822;AMYH02028823;BC126107;BC143812;BC143815;BX640983;CH471078;NM_007110;U86136;XM_005268027;XR_245720;XR_429328 AAC51107;AAI26108;BAD92906;BAG64378;CAE45993;EAW66475;NP_009041;Q99973;XP_005268084 Hs.508835 1334796;1699922;2109933;2167851;5014051;5021872;5022200;5037552;5115668;7185507 D14S261;D8S2278;D8S2279;G35564;L18426;RH103569;TEP1;TEP1__5238;sY3084 TLP1;TP1;TROVE1;VAULT2;p240 OTTHUMP00000028244;OTTHUMP00000244562;OTTHUMP00000244564;TROVE domain family, member 1;p80 telomerase homolog;telomerase associated protein 1;telomerase protein 1;telomerase protein component 1 APPROVED protein-coding ENSG00000129566 HGNC:11726 03404 601686 REVIEWED 1347709 TERF1P1 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 1 21 21 21 q11.2 1 1593 - 15148407 15151133 + 13776086 13778812 + 348567 AC245051;AL050303;AL109748;AL163204;NG_003158 TERF1P APPROVED pseudo HGNC:16733 INFERRED 3051183 TERF1P2 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 2 18 18 p11.21 14375941 14378756 - 14375942 14378757 - 646359 ABBA01074053;AMYH02034358;AP005212;NG_023014 pseudo HGNC:38110 INFERRED 3051190 TERF1P3 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 3 4 4 4 q28.3 134609510 134612337 - 137274665 137277492 - 136353510 136356337 - 23725790 646316 ABBA01044898;AC006572;AMYH02010165;NG_023005 pseudo HGNC:38499 INFERRED 1323104 TERF1 telomeric repeat binding factor (NIMA-interacting) 1 This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008] 8 8 8 q21.11 69918262 69957163 + 73921097 73959987 + 73008862 73047752 + 1580863;2317221;2317222;2317220;6480464 18720522;19679647;20127252 10581025;10669743;10913111;10988299;11313893;11327863;11375976;11454873;11545737;11701125;11738049;11739745;11744712;11751684;11802774;11813863;11854288;11943150;11971978;12007281;12080061;12135354;12477932;12530079;12667345;12768206;12782650;12915656;1406665;14702039;14715659;14966275;15007108;15100233;15133513;15181449;15229185;15231715;15231748;15314656;15316005;15380063;15383534;15389875;15608617;15632001;15792519;16166375;16169070;16275645;16344560;16358369;16421973;16647572;16756990;16786598;16880378;17000763;17020976;17081983;17561506;17629495;17681636;17694070;17765874;17848914;17962804;18160036;18178559;18202258;18221737;18347021;18397896;18625707;18676680;18761675;19129235;19164295;19170196;19265708;19487455;19596237;19596784;19625176;19692168;19746267;19766477;19773453;19797051;19817957;19887064;20056641;20056655;20137830;20159592;20160025;20181953;20549820;20644899;20811636;20936779;20937264;21044950;21048031;21119197;21139048;21209389;21314979;21423270;21890473;21906983;21988832;22045740;22225189;22331467;22336916;22379092;22412388;22641345;22645305;22790221;22878603;23268632;23455924;23583392;23702294;23959892;24019069;24091727;24389012;24415760;24752893;24816145;7502076;8606777;8614633;9002672;9034193;9130722;9326950;9391075;9480811;9739097;9822378 7013 E5RFJ5;E7EWM7;P54274 ABBA01041960;AC022893;AF003001;AI218408;AK123410;AK292529;AMYH02018205;AY576778;BC014646;BC029378;BC071975;BF056993;CH471068;CX788828;DA658766;EU088287;NG_029121;NM_003218;NM_017489;U40705;U74382;X93511;XM_005251291;XM_005251292 AAB53363;AAB54036;AAB81137;AAH29378;AAT81150;ABM83499;ABM86715;ABV02580;BAF85218;CAA63768;EAW86990;EAW86991;EAW86992;EAW86993;EAW86994;NP_003209;NP_059523;P54274;XP_005251348;XP_005251349 Hs.442707 2164780;5037552 D8S2279;WI-15399 FLJ41416;PIN2;TRBF1;TRF;TRF1;hTRF1-AS;t-TRF1 NIMA-interacting protein 2;OTTHUMP00000226889;OTTHUMP00000226890;TTAGGG repeat-binding factor 1;telomeric protein Pin2/TRF1;telomeric repeat binding factor 1;telomeric repeat binding protein 1;telomeric repeat-binding factor 1 APPROVED protein-coding ENSG00000147601 HGNC:11728 02975 600951 REVIEWED 3418557 TERF1P4 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 4 X X X q21.1 83241229 83242505 - 83003833 83005109 - 83748825 83750101 - 648283 ABBA01041609;AL445306;AMYH02039878;NG_022613 1753329 SHGC-86167 pseudo HGNC:38500 INFERRED 5129410 TERF1P5 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 5 13 13 13 q11 325380 328184 + 19254635 19257440 + 18680495 18683300 + 283523 AC245149;AL359737;NG_011338 KIAA1785 pseudo HGNC:39686 INFERRED 1322035 TERF2 telomeric repeat binding factor 2 This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 53904070 53934402 - 69389464 69419891 - 69355561 69385988 - 1580863;6480464 10226653;10338214;10570139;10669743;10850490;10888888;10984620;11112778;11545737;11577237;11923537;11938440;11971978;12181313;12417987;12477932;12530079;12702777;12768206;12915884;14513051;14565979;14690602;14741354;14749375;15005708;15007108;15100233;15149599;15181449;15229185;15265990;15292264;15302935;15314656;15316005;15383534;15489334;15520325;15608617;15632001;15657433;15665826;15735711;15893730;16166375;16223874;16606622;16647572;16730175;16786598;16880378;16964243;17052985;17055345;17081983;17395247;17499040;17670947;17681636;17848914;18025071;18029348;18056407;18178559;18197706;18202258;18212065;18309533;18418389;18422278;18468965;18593705;18621559;18676680;18761675;18812185;18818083;18976975;19164295;19170196;19285750;19287395;19322201;19329795;19363487;19375317;19398584;19399616;19505873;19596235;19596236;19596784;19625176;19651898;19692168;19716786;19766477;19773453;19783902;19797051;19817957;19996277;20028875;20056641;20061197;20127252;20200249;20201926;20360068;20407424;20549820;20571083;20625812;20644899;20655466;20811636;20937264;21044950;21048031;21057505;21139048;21209389;21217703;21395184;21423270;21423278;21693764;21824286;21890473;21906983;22336916;22536324;22704123;22780456;22821339;22841872;22843416;22878603;22939629;23000965;23086976;23172421;23383273;23429341;23792691;23994477;24012755;24095731;24332808;24457600;24816145;8614633;9326950;9326951;9476899 7014 H3BR06;H3BR37;H3BTA7;J3KSJ9;J3KSZ6;J3KTN8;Q15554;U3KQ35;V9GYM1 ABBA01025527;AC026464;AF002999;AMYH02032277;AMYH02032278;AMYH02032279;BC024890;BX090758;CB216181;CH471092;HY046320;NM_005652;U95970;X93512;XM_005256121;XM_005256122;XM_005256123;XM_005256124 AAB81135;AAD00821;AAH24890;CAA63769;EAW83273;EAW83274;NP_005643;Q15554;XP_005256178;XP_005256179;XP_005256180;XP_005256181 Hs.63335 1675678;1688957;1715273;1796922;2143012;5015619;5022651;5037552 D11S2921;D11S3114;D8S2279;RH119887;RH65061;RH65311;SHGC-60576;TERF2_1083 TRBF2;TRF2 OTTHUMP00000174887;TTAGGG repeat-binding factor 2;telomeric DNA-binding protein;telomeric repeat binding protein 2;telomeric repeat-binding factor 2 APPROVED protein-coding ENSG00000132604 HGNC:11729 03610 602027 REVIEWED 1346237 TERF2IPP1 telomeric repeat binding factor 2, interacting protein pseudogene 1 22 22 22 q11.2 1520102 1522135 + 17897692 17899725 + 17418645 17420678 + 644899 ABBA01001448;AC004019;AMYH02037998;FO681548;NG_017137;NG_033989 2150173 SHGC-60699 pseudo HGNC:19258 INFERRED 1320161 TERF2IP telomeric repeat binding factor 2, interacting protein The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010] 16 16 16 q23.1 59975980 59985684 + 75681602 75691340 + 75647737 75657442 + 1580863;6480464 10850490;10888888;11545594;12477932;12753906;12768206;12845325;14565979;14690602;14702039;15100233;15181449;15302935;15316005;15383534;15489334;15498874;15838871;16166375;16189514;16880378;16964243;17055345;17207965;17499040;18029348;18580452;18922916;19164295;19471022;19505873;19596235;19651898;19766477;19773453;19844255;20032304;20039365;20056641;20061197;20407424;20622869;20622870;20937264;21044950;21139048;21209389;21217703;21315259;21423278;21628423;21669874;21693764;21890473;21906983;22242598;22511766;22863883;22902628;22939629;23086976;23178297;23241957;23352189;23798437;23804711;24250222;24316969;24816145 54386 H3BMI8;H3BR63;Q9NYB0 AA769291;ABBA01017057;AC025287;AF250393;AF262988;AF289599;AK000669;AK298880;AK307901;AMYH02032406;BC004465;BC005841;BC016739;BC022428;BC078171;CH471114;NM_018975 AAF72711;AAH04465;AAH05841;AAH22428;AAH78171;AAL55783;AAQ14259;ADQ32745;BAA91317;BAG60996;EAW95616;EAW95617;EAW95618;NP_061848;Q9NYB0 Hs.301419 1647682;1678477;1700656;1796920;2138382;2150173;5119227 D16S2999E;RH103951;RH65172;SHGC-60699;SHGC-60818;SHGC-61067;TERF2IP_1085 DRIP5;RAP1;hRap1 RAP1 homolog;TERF2-interacting telomeric protein 1;TRF2-interacting telomeric RAP1 protein;TRF2-interacting telomeric protein 1;dopamine receptor interacting protein 5;dopamine receptor-interacting protein 5;repressor/activator protein 1 homolog;telomeric repeat-binding factor 2-interacting protein 1 APPROVED protein-coding ENSG00000166848 HGNC:19246 05452 605061 REVIEWED 1603311 TES testis derived transcript (3 LIM domains) Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a commom fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. This protein is a negative regulator of cell growth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this gene.[provided by RefSeq, Mar 2011] 7 7 7 q31.2 110657947 110706196 + 115850547 115898840 + 116210493 116258786 + 6480464 10704826;10950921;11377796;11420696;12477932;12571287;12639940;12690205;12695497;12810672;12853948;14702039;15252854;15489334;15656790;15662727;17296370;18029348;18158903;18696217;18799041;19289703;19322201;20180808;20360068;20573277;20626849;21139048;21275903;21278383;21843504;21890473;21906983;21988832;22156939;22201996;22863883;22939629;22957844;23715752;25027693;8125298;9045675 26136 A4D0U5;B7Z6L5;F8W7T0;F8WDI4;H7BYK1;Q9UGI8 ABBA01057811;AC073130;AF147329;AF245356;AF245357;AF260225;AJ250865;AK021575;AK222840;AK291802;AK299104;AK300546;AK309324;AK310995;AK315644;AL050162;AMYH02016622;BC001451;BC040208;BC045580;CH236947;CH471070;DC341259;GQ423971;NM_015641;NM_152829;XM_005250258 AAG17612;AAG17613;AAG17635;AAG17636;AAH01451;AAQ93367;ABW03495;ABW03803;ACV74338;BAB13846;BAD96560;BAF84491;BAG38011;BAH12951;BAH13301;CAB43302;CAB65119;EAL24364;EAL24365;EAW83494;EAW83495;EAW83496;EAW83497;NP_056456;NP_690042;Q9UGI8;XP_005250315 Hs.592286;Hs.664957 1339905;1683471;1697666;1712144;1735640;1754505;1776266;1779814;1786306;1798786;1800640;1801564;1802108;1802346;1802658;1804540;1804594;1804672;1805648;1805766;1806314;1808490;1808718;1809060;1810096;1811132;1811502;1811682;1812070;1812280;1812554;1813220;1813372;1813446;1814108;1814402;1816358;1816442;1816968;1817198;1819370;1819772;1820458;1820460;1821576;1822154;1822348;1825964;1827284;1828514;1828948;1831070;1834034;1838306;1840048;1840236;1845972;1846382;1993690;1993692;1993694;1993696;1993698;1993700;1993702;1993704;1993706;1993708;1993710;1993712;1993714;1993716;1993718;1993720;1993722;1993724;1993726;1993728;1993730;1993732;1993734;1993736;1993738;1993740;1993742;1993744;1993746;1993748;1993750;1993752;1993754;1993756;1993758;1993760;1993762;1993764;1993766;1993768;1993770;1993772;1993774;1993776;1993778;1993780;1993782;1993784;1993786;1993788;1993790;1993792;1993794;1993796;1993798;1993800;1993802;1993804;1993806;1993808;1993810;1993812;1993814;1993816;1993818;1993820;1993822;1993824;1993826;1993828;1993830;1993832;1993834;1993836;1993838;1993840;1993842;1993844;1993846;1993848;1993850;1993852;1993854;1993856;1993858;1993860;1993862;1993864;1993866;1993868;1993870;1993872;1993874;1993876;1993878;1993880;1993882;1993884;1993886;1993888;1993890;1993892;1993894;1993896;1993898;1993900;1993902;1993904;1993906;1993908;1993910;1993912;1993914;1993916;1993918;1993920;1993922;1993924;1993926;1993928;1993930;1993932;1993934;1993936;1993938;1993940;1993942;1993944;1993946;1993948;1993950;1993952;1993954;1993956;1993958;1993960;1993962;1993964;1993966;1993968;1993970;1993972;1993974;1993976;1993978;1993980;1993982;1993984;1993986;1993988;1993990;1993992;1993994;1993996;1993998;1994000;1994002;1994004;1994006;1994008;1994010;1994012;1994014;1994016;1994018;1994020;1994022;1994024;1994026;1994028;1994030;1994032;1994034;1994036;1994038;1994040;1994042;1994044;1994046;1994048;1994050;1994052;1994054;1994056;1994058;1994060;1994062;1994064;1994066;1994068;1994070;1994072;1994074;1994076;1994078;2092856;2092858;2092860;2092862;2092864;2092866;2092868;2092870;2092872;2092874;2092876;2092878;2092880;2092882;2092884;2092886;2092888;2092890;2092892;2092894;2092896;2092898;2092900;2092902;2092904;2092906;2092908;2092910;2092912;2092914;2092916;2092918;2092920;2092922;2185810;5017935;5037552;7185302 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DKFZp586B2022;MGC1146;TESS;TESS-2 OTTHUMP00000024710;OTTHUMP00000068810;testin APPROVED protein-coding ENSG00000135269 HGNC:14620 05833 606085 REVIEWED 1606266 TESC tescalcin ENCODES a protein that exhibits calcium ion binding; magnesium ion binding (ortholog); phosphatase inhibitor activity (ortholog); INVOLVED IN cellular response to retinoic acid; negative regulation of cell proliferation; positive regulation of gene expression; FOUND IN cytoplasm; lamellipodium; nucleus; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; copper(2+) sulfate 12 12 12 q24.22 117106248 117166769 - 117476728 117537251 - 117038923 117099446 - 6480464 11145610;11696366;12477932;12809501;14661968;15489334;16189514;17717601;18321853;19345287;20060826;21890473;21906983;22984264;8889548 54997 E9PQ58;H0YIX4;Q96BS2 ABBA01020024;ABBA01020025;AC026368;AF443207;AI372964;AI910454;AK000614;AMYH02027307;AMYH02027308;BC015221;BE670015;BM666793;BQ434057;BQ949772;CH471054;DB452909;NM_001168325;NM_017899;NR_031766 AAH15221;AAL35615;ABM85570;BAA91288;EAW98098;EAW98099;EAW98100;EAW98101;NP_001161797;NP_060369;Q96BS2 Hs.525709 1675883;1688734;1710568;1764941 RH76322;RH91363;SHGC-148494;SHGC-82386 CHP3;FLJ20607;TSC OTTHUMP00000185561;OTTHUMP00000233139;calcineurin B homologous protein 3;calcineurin-like EF hand protein 3 protein-coding ENSG00000088992 HGNC:26065 11649 611585 VALIDATED 1353510 TERT telomerase reverse transcriptase Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. 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7015 O14746 AB016767;AB018788;AB085628;AB086379;AB086950;ABBA01034206;ABBA01034207;AC114291;AF015950;AF018167;AF097365;AF098956;AF114847;AF121948;AF128893;AMYH02010764;AX810036;AX810378;AY007685;BC062321;CH471102;CS469081;CS542611;DQ264729;HD121737;JF896280;JF896282;JF896283;JF896284;JF896285;NG_009265;NM_001193376;NM_198253;XR_241712;XR_241713 AAC40212;AAC51672;AAC51724;AAD12057;AAD12786;AAD17210;AAD24464;AAD30037;AAG23289;AAI56389;AAI72541;ABB72674;AEF12311;AEF12312;BAA74724;BAA78344;BAC11010;BAC11014;BAC11015;CAE75638;CAE75644;CAM33584;CAM91189;CBW46529;EAX08165;EAX08166;EAX08167;EAX08168;EAX08169;EAX08170;EAX08171;NP_001180305;NP_937983;O14746 Hs.492203 1791970;1792884;1793326;1795164 PMC133987P6;PMC166208P1;PMC209426P1;PMC99947P1 CMM9;DKCA2;DKCB4;EST2;PFBMFT1;TCS1;TP2;TRT;hEST2;hTRT OTTHUMP00000115415;OTTHUMP00000220871;telomerase catalytic subunit;telomerase-associated protein 2 APPROVED protein-coding ENSG00000164362 HGNC:11730 01754 187270;601626;613989;614742;615134 REVIEWED 8695450 TESC-AS1 TESC antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 12 12 q24.22 117537272 117539838 + 117099467 117141944 + 8554872 101928244 ABBA01020025;AC026368;AMYH02027308;AMYH02027309;AMYH02027310;HG505225;HY007462;HY052120;NR_120464;XR_424415;XR_429191;XR_432888 Hs.742266 ncrna ENSG00000258285 HGNC:51142 VALIDATED 732889 TESK1 testis-specific kinase 1 This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. [provided by RefSeq, Jul 2008] 9 9 9 p13 35538842 35543599 + 35605281 35610038 + 35605284 35610041 + 61764;1580863;1300048;6480464;8554872 8537404 10207045;10512679;11294912;11340065;11418599;11555644;12027893;12477932;15817463;17974561;18216281;20237496;21988832;22939624;9655398 7016 Q15569;Q8NFJ4 ABBA01064989;AF452589;AF479317;AF507907;AF507908;AF507909;AF521045;AF521046;AF521047;AF521049;AK298907;AL357874;AMYH02019463;BC011799;BC037561;BC038448;BC067130;CH471071;D50863;NM_006285 AAH38448;AAH67130;AAL49755;AAL84790;AAM50515;AAM50516;AAM50517;AAM77907;AAM77908;AAM77909;AAM77911;ABM84253;ABM87642;BAA09459;BAG61015;EAW58374;EAW58375;NP_006276;Q15569 Hs.708096 1677318;2106713;2106981;2185528;5491999 CD72_7759;D11S4618;RH26484;TESK1-1;TESK1__5239 OTTHUMP00000021332;dual specificity testis-specific protein kinase 1;testicular protein kinase 1;testis specific protein kinase 1 APPROVED protein-coding ENSG00000107140 HGNC:11731 03470 601782 REVIEWED 734237 TESK2 testis-specific kinase 2 This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. [provided by RefSeq, Jul 2008] 1 1 1 p32 44092931 44240161 - 45809555 45956840 - 45343883 45491168 - 1580863;6480464;8554872 10512679;11340065;11418599;11555644;12477932;14702039;15489334;16344560;18029348;22939624;24657165;9655398 10420 B4DYL6;D3DPZ7;Q96S53 AB057597;ABBA01050870;ABBA01050871;ABBA01050872;ABBA01050873;ABBA01050874;ABBA01050875;ABBA01050876;ABBA01050877;ABBA01050878;ABBA01050879;ABBA01050880;ABBA01050881;AJ132545;AK027573;AK294172;AK299269;AK302494;AL359540;AL451136;AMYH02000924;AMYH02000925;AMYH02000926;AMYH02000927;AMYH02000928;AMYH02000929;AMYH02000930;AX882392;BC022194;BC033085;BX648441;CH471059;DA990759;DB161528;NM_007170;XM_005270355;XM_006710287 AAH33085;ACE87084;ACE87764;BAB62909;BAG51348;BAG57493;BAG61291;BAG63778;CAB41970;CAE91562;EAX06986;EAX06987;EAX06988;EAX06989;NP_009101;Q96S53;XP_005270412;XP_006710350 Hs.591499 1692200;1692600;1703256;1730825;1766201;1766445;2106715;2176074;2183739;2190799 AL033737;AL033936;D1S322;RH18295;RH68652;SGC31961;SHGC-149565;SHGC-149775;TESK2;TESK2__5240 OTTHUMP00000009093;OTTHUMP00000009094;dual specificity testis-specific protein kinase 2;testicular protein kinase 2 APPROVED protein-coding ENSG00000070759 HGNC:11732 604746 REVIEWED 1605107 TESPA1 thymocyte expressed, positive selection associated 1 ENCODES a protein that exhibits receptor binding (inferred); INVOLVED IN COP9 signalosome assembly (ortholog); positive regulation of T cell differentiation in thymus (ortholog); positive regulation of T cell receptor signaling pathway (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN COP9 signalosome; cytoplasm (ortholog); INTERACTS WITH zoledronic acid; lead diacetate (ortholog) 12 12 12 q13.2 54995725 55030320 - 55342087 55378965 - 54948303 54985180 - 6480464;8554872 12477932;19913121;20628086;22505724;23501103;23541577;9872452 9840 A2RU30;B4DHC1;E9PHY9;E9PIN8;E9PIT9;E9PM24;E9PN46;E9PPW8;H0YDP3;H0YEX3 AB018291;ABBA01008377;ABBA01008378;AC079842;AF161375;AK295026;AK298405;AK303223;AK315972;AMYH02026541;AW967924;BC037220;BC044578;BC132732;BC132734;CH471054;NM_001098815;NM_001136030;NM_001261844;NM_014796;XM_005269243;XM_005269244;XM_005269245;XM_005269246;XM_005269247;XM_006719715;XM_006719716 A2RU30;AAF28935;AAH44578;AAI32733;AAI32735;BAA34468;BAG58082;BAG60635;BAG64310;BAH14343;EAW96796;EAW96798;EAW96799;EAW96800;EAW96801;EAW96802;NP_001092285;NP_001129502;NP_001248773;NP_055611;XP_005269300;XP_005269301;XP_005269302;XP_005269303;XP_005269304;XP_006719778;XP_006719779 Hs.33187 1648352;1685263;1736264 D12S1221E;RH92746;WI-16263 HSPC257;KIAA0748 OTTHUMP00000229600;OTTHUMP00000229601;OTTHUMP00000229602;hypothetical protein LOC9840;thymocyte-expressed positive selection-associated protein 1;uncharacterized protein KIAA0748 APPROVED protein-coding ENSG00000135426 HGNC:29109 615664 VALIDATED 1626694 TET1P1 tet methylcytosine dioxygenase 1 pseudogene 1 13 13 13 q31.2 69383499 69386953 - 88542198 88545652 - 87889943 87893397 - 441662 ABBA01027271;AL445647;AMYH02028426;NG_006594 CXXC6P1 APPROVED pseudo HGNC:33586 INFERRED 1322209 TET1 tet methylcytosine dioxygenase 1 ENCODES a protein that exhibits iron ion binding; methylcytosine dioxygenase activity; structure-specific DNA binding; INVOLVED IN DNA demethylation; negative regulation of methylation-dependent chromatin silencing; inner cell mass cell differentiation (ortholog); PARTICIPATES IN DNA modification pathway; ASSOCIATED WITH Carcinoma, Hepatocellular; FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 10 10 10 q21 63596035 63730160 + 70320117 70454239 + 68560360 68694482 + 6480464;9586747;8695943;8695944 22770212;23671639;24825349 11214970;12124344;12477932;12646957;15164054;15489334;16385451;18029348;18163421;19372391;19420352;19923888;21251613;21311766;21496894;22196727;22320381;22688054;22948384;22999938;23100278;23213213;23328087;23685628;23716660;23818607;23820384;23938174;24323992;24325350;24469454;24804542;24875481 80312 Q8NFU7 AB051463;ABBA01019578;ABBA01019579;ABBA01019580;ABBA01019581;ABBA01019582;ABBA01019583;AF430147;AK123436;AL360177;AL513534;AL713658;AL713888;AL832334;AL832337;AMYH02023256;AMYH02023257;AMYH02023258;AMYH02023259;BC053905;CH471083;JX311858;JX311859;NM_030625 AAH53905;AAI72365;AAM88301;AGK83641;AGK83642;BAB21767;CAD28467;EAW54299;NP_085128;Q8NFU7 Hs.567594;Hs.708977 1653104;1666558;1721433;2146303;2217226 CXXC6_3680;G59568;RH48131;SHGC-3962;SHGC-6703 CXXC6;FLJ10839;FLJ41442;KIAA1676;LCX;bA119F7.1 CXXC finger 6;CXXC zinc finger 6;CXXC-type zinc finger protein 6;OTTHUMP00000019708;TET1 splice variant VP_DE4;TET1 splice variant VP_DE456;leukemia-associated protein with a CXXC domain;methylcytosine dioxygenase TET1;ten-eleven translocation 1 gene protein;ten-eleven translocation-1;tet oncogene 1 APPROVED protein-coding ENSG00000138336 HGNC:29484 09694 607790 VALIDATED 1606790 TET2 tet methylcytosine dioxygenase 2 The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 4 4 4 q24 103367233 103500234 + 106067032 106200960 + 105145875 105279803 + 6480464;8699517;7240710;8695943;8695944;8554872 22770212;24825349 10997877;12421765;12477932;12646957;14702039;16344560;19262599;19262601;19295549;19372255;19420352;19474426;19483684;19528370;19564637;19609284;19666869;19710701;19767753;19797729;19849974;19903679;19923888;19957346;20008299;20061559;20093295;20156304;20171768;20195608;20332099;20334914;20428194;20489055;20508616;20520643;20564319;20573398;20595094;20629097;20644105;20671051;20678218;20693430;20880116;20881960;20955399;21042320;21057493;21087791;21130701;21173100;21251613;21273266;21275969;21307773;21310937;21339759;21343549;21346257;21494260;21508122;21625234;21690245;21723200;21723201;21729597;21734233;21760590;21794915;21828143;21904853;21920603;21946350;22017486;22080757;22116554;22200996;22216861;22328940;22354994;22395470;22430270;22489043;22569366;22658931;22760778;22905207;22943828;22981865;23001125;23009937;23065512;23074272;23099237;23135354;23222540;23365461;23398456;23521373;23535729;23563267;23563607;23781511;23820384;23827711;23831920;23863747;23940084;23996483;24077167;24122999;24218139;24220273;24315485;24394411;24413737;24433485;24735979;24994606 54790 D6RE87;E7EPB1;E7EQS8;Q6N021 AB046766;AB075496;ABBA01063731;AC004069;AC026029;AI084057;AK000039;AK027819;AK055149;AMYH02009844;AMYH02009845;BC019007;BC110509;BC110510;BC150180;BC150201;BQ006500;BX640738;CH471057;DA391215;DR000714;DR005542;FM992369;NG_028191;NM_001127208;NM_017628;XM_005263082;XM_006714242;XM_006714243;XR_244633;XR_244634;XR_427546;XR_427547 AAI10510;AAI10511;AAI50181;AAI50202;BAA90898;BAB13372;BAB55391;BAE45750;CAE45851;CAX30492;EAX06177;EAX06178;NP_001120680;NP_060098;Q6N021;XP_005263139;XP_006714305;XP_006714306 Hs.367639;Hs.706276 1662320;1689612;1696536;1851381;2124653;2136212;2182627;2187474 AFM199yb2;D4S3313;G34465;RH69608;SHGC-23097;SHGC-67291;SHGC-67957;SHGC-78137 FLJ20032;KIAA1546;MDS;MGC125715 OTTHUMP00000161869;OTTHUMP00000161870;OTTHUMP00000219510;OTTHUMP00000219511;OTTHUMP00000219513;methylcytosine dioxygenase TET2;probable methylcytosine dioxygenase TET2;tet oncogene family member 2 APPROVED protein-coding ENSG00000168769 HGNC:25941 07876 612839;614286 REVIEWED 2291813 TET3 tet methylcytosine dioxygenase 3 Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010] 2 2 2 p13.1 74104908 74166519 + 74212211 74335303 + 73985084 74108176 + 6480464;8695943;8695944;9479164 22770212;23697932;24825349 11181995;12477932;15489334;15815621;19420352;19923888;20379614;21546767;21832049;23217707;23273568;23690950;23727577;23820384;24304661;24394411;9455477 200424 J3KNF3;K9JJH7;O43151 AB007861;ABBA01075594;ABBA01075595;ABBA01075596;ABBA01075597;ABBA01075598;AC073046;AC073263;AC110801;AF466365;AI348471;AMYH02004086;BC022243;CH471053;HG494202;HQ220209;NM_001287491;XM_005264187;XM_006711963 AAH22243;AAO33386;AAX93057;ADU77107;BAA23697;EAW99702;NP_001274420;O43151;XP_005264244;XP_006712026 Hs.516107 1734986;1761643;2107365;2150166;2186503 D2S1726E;MGC22014__7690;SHGC-145629;SHGC-62008;WI-16880 AC073046.25;KIAA0401;MGC22014;hCG_40738 OTTHUMP00000202526;methylcytosine dioxygenase TET3;probable methylcytosine dioxygenase TET3;putative methylcytosine dioxygenase;tet oncogene family member 3 APPROVED protein-coding ENSG00000187605 HGNC:28313 613555 VALIDATED 1323824 TEX10 testis expressed 10 ASSOCIATED WITH Melanoma (inferred); FOUND IN MLL1 complex; INTERACTS WITH aflatoxin B1; atrazine; cobalt dichloride 9 9 9 q31.1 73577686 73628526 - 103064357 103115856 - 100302075 100352977 - 737633;6480464;8554872 12477932 12429849;12880961;14702039;15164053;15231748;15334068;15342556;15489334;15960975;19394292;19596235;19615732;21139048;21326211;21890473;21906983;21963094;22190735;22586326;22939629;23000965;23481573;23667531;24332808;24457600;24654937;24816145 54881 B7Z9D5;Q9NXF1 AA436854;AB060968;ABBA01042890;AJ420436;AK000294;AK055719;AK091669;AK298916;AK302619;AK303662;AK304869;AL353805;AL445214;AMYH02021337;AMYH02021338;AY598337;BC030652;BF981005;BP336313;CH471105;NM_001161584;NM_017746 AAH30652;AAT06748;ADZ15707;BAA91062;BAB87845;BAG61022;BAG63864;BAG64661;BAH14271;EAW58927;EAW58928;EAW58929;NP_001155056;NP_060216;Q9NXF1 Hs.494648 1654295;1661736;1735858;1768868;1775256;1779060;1846771;2146887;2146889 A005U30;D9S1923;D9S988E;G20513;RH12786;RH69417;RH69936;SHGC-31311;SHGC-34139 FLJ20287;FLJ31157;FLJ34350;Ipi1;RP11-208F1.2;bA208F1.2 OTTHUMP00000021797;testis expressed gene 10;testis expressed sequence 10;testis-expressed sequence 10 protein protein-coding ENSG00000136891 HGNC:25988 15489 VALIDATED 1354475 TEX101 testis expressed 101 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN acrosomal membrane (inferred); anchored component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog); chromium(6+) (ortholog) 19 19 19 q13.31 40693597 40723504 + 43892763 43922767 + 43388611 43418615 + 737633;6480464;8554872 12477932 12975309;15489334;16388701;16516155;19017363;19153666;19886887;21933954;22158499;22588436;22990118;24259048 83639 Q9BY14 AA417291;ABBA01040858;ABBA01040859;AC005392;AC018758;AF241268;AF353396;AMYH02036160;AMYH02036161;AY014285;AY359077;BC001861;CH471126;NM_001130011;NM_031451;XM_005259303 AAH01861;AAK27310;AAK28327;AAK38662;AAQ89436;EAW57187;EAW57188;EAW57189;NP_001123483;NP_113639;Q9BY14;XP_005259360 Hs.97978 1687239;1735084 D3S2771E;RH92107 CT131;GTPR867;MGC4766;NYD-SP8;PRO1884;SGRG;SPATA44;TES101RP cancer/testis antigen 131;cell surface receptor NYD-SP8;scleroderma-associated autoantigen;spermatogenesis associated 44;spermatogenesis-related gene protein;testis expressed sequence 101;testis-expressed protein 101;testis-expressed sequence 101 protein;testis-specific protein TES101RP protein-coding ENSG00000131126 HGNC:30722 15490 612665 VALIDATED 1351277 TEX12 testis expressed 12 This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008] 11 11 11 q22 109191328 109196512 + 112004926 112043279 + 112167372 112172556 + 6480464 11279525;12477932;15489334;17207965;19773279;20967262;22870393;24182552 56158 Q9BXU0 ABBA01039802;AF285600;AMYH02025585;AP002884;BC029506;BI561514;CH471065;EF444956;HC007334;NM_031275 AAH29506;AAK31979;ACA05953;ACA05955;ADQ32444;CBH19472;EAW67187;EAW67188;NP_112565;Q9BXU0 Hs.524039 1686750;5107169 G65772;RH93266 OTTHUMP00000234752;OTTHUMP00000234753;testis expressed sequence 12;testis-expressed sequence 12 protein;testis-expressed sequence 12 protein variant 2;testis-expressed sequence 12 protein variant 3 APPROVED protein-coding ENSG00000150783 HGNC:11734 12045 605791 REVIEWED 1347600 TEX11 testis expressed 11 This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q13.1 70102128 70481892 - 69748790 70128567 - 70528940 70908717 - 1580863;6480464 11279525;11329013;12477932;14702039;16189514;16713569;18029348;20378615 56159 Q8IYF3 ABBA01067582;ABBA01067583;ABBA01067584;ABBA01067585;ABBA01067586;ABBA01067587;ABBA01067588;ABBA01067589;ABBA01067590;ABBA01067591;ABBA01067592;ABBA01067593;ABBA01067594;ABBA01067595;ABBA01067596;ABBA01067597;ABBA01067598;ABBA01067599;ABBA01067600;ABBA01067601;ABBA01067602;ABBA01067603;ABBA01067604;ABBA01067605;ABBA01067606;ABBA01067607;ABBA01067608;ABBA01067609;ABBA01067610;ABBA01067611;ABBA01067612;ABBA01067613;ABBA01067614;ABBA01067615;ABBA01067616;ABBA01067617;ABBA01067618;ABBA01067619;ABBA01067620;ABBA01067621;ABBA01067622;ABBA01067623;ABBA01067624;ABBA01067625;ABBA01067626;ABBA01067627;ABBA01067628;ABBA01067629;ABBA01067630;ABBA01067631;ABBA01067632;AF285594;AK057391;AK057523;AK292471;AL139109;AL627071;AL627390;AMYH02039660;AMYH02039661;AMYH02039662;AMYH02039663;AMYH02039664;AMYH02039665;AMYH02039666;AMYH02039667;BC036016;BG219070;BU929507;CH471132;KF459148;KF459155;NG_012574;NM_001003811;NM_031276 AAH36016;AAK31973;ABM85353;ABW03716;BAB71465;BAB71520;BAF85160;EAX05331;EAX05332;NP_001003811;NP_112566;Q8IYF3 Hs.121776 1341915;1768953;2139787;2183917;2220288;5016759;5021640;5021642;5021644;5022578;5022891;5022893;5022895;5022897;5105351;5107167;5115670;5115672;5115674;5115676;5115678;5115680;5115682;5115684;5115686;5115688;5115690;5115692;5115694;5115696;5115698;5115700;5115702;5115704;5115706;5115708;5115710 AB070035;D1S1423;DXS7113;DXS7115;DXS7116;DXS8052;G65771;RH99274;SHGC-110683;TEX11-10;TEX11-11;TEX11-12;TEX11-13;TEX11-14;TEX11-15;TEX11-16;TEX11-17;TEX11-18;TEX11-19;TEX11-2;TEX11-20;TEX11-21;TEX11-22;TEX11-23;TEX11-24;TEX11-25;TEX11-26;TEX11-27;TEX11-28;TEX11-29;TEX11-3;TEX11-30;TEX11-4;TEX11-5;TEX11-6-7;TEX11-8;TEX11-9 TGC1;TSGA3 OTTHUMP00000023480;OTTHUMP00000023482;OTTHUMP00000217425;testis expressed sequence 11;testis-expressed sequence 11 protein APPROVED protein-coding ENSG00000120498 HGNC:11733 02256 300311 REVIEWED 1352852 TEX13A testis expressed 13A This gene is similar to a mouse gene that is expressed in the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] X X X q22.3 104938198 104939943 - 104463611 104465358 - 105218929 105220674 - 1580863;6480464 11279525;12477932;14531651;15489334 56157 Q9BXU3 ABBA01018954;AF285597;AMYH02040188;BC042547;BC108734;CH471120;HC007336;HY018872;NG_012566;NG_016253;NM_001291277;NM_031274;Z74477 AAH42547;AAI08735;AAK31976;ABZ92542;ADZ15641;CBH19473;EAX02754;NP_001278206;NP_112564;Q9BXU3 Hs.567543 1700204;1789458;5493961 G65773;RH103718;UniSTS:480529 MGC131984 OTTHUMP00000023771;OTTHUMP00000023772;testis expressed sequence 13A;testis-expressed sequence 13A protein APPROVED protein-coding ENSG00000268629 HGNC:11735 02257 300312 REVIEWED 1347068 TEX13B testis expressed 13B This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008] X X X q22.3 107695571 107697077 - 107224094 107225600 - 107980864 107982370 - 6480464;8554872 11279525;14531651;15772651 56156 Q9BXU2 ABBA01035960;AF285598;AL034399;AMYH02040220;CH471120;NG_015975;NM_031273 AAI60037;AAK31977;EAX02700;NP_112563;Q9BXU2 Hs.333130 1789460;5492785;5493441;5493961 G65774;UniSTS:480529;UniSTS:482551;UniSTS:486259 TGC3B;TSGA5 OTTHUMP00000023819;testis expressed sequence 13B;testis-expressed sequence 13B protein APPROVED protein-coding ENSG00000170925 HGNC:11736 02258 300313 REVIEWED 1313466 TEX14 testis expressed 14 The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] 17 17 17 q22 53095837 53231170 - 56634038 56769416 - 58556677 58692055 - 1580863;6480464 11279525;12471243;12477932;12711554;15489334;16344560;20056645;20176808;20378615;22405274;23666239;23666240;23704328 56155 J3QKU8;J3QLK3;Q8IWB6 ABBA01041340;ABBA01041341;ABBA01041342;ABBA01041343;ABBA01041344;ABBA01041345;ABBA01041346;ABBA01041347;ABBA01041348;AC005666;AC011195;AF285601;AI243203;AK125896;AK128217;AK308299;AL834143;AMYH02033690;AMYH02033691;AMYH02033692;AMYH02033693;BC040526;BC045647;BG718877;BK000998;CB044007;CB050840;CH471109;DB086121;NM_001201457;NM_031272;NM_198393;XM_005257518;XM_005257519;XM_006721976;XM_006721977;XM_006721978 AAH40526;AAK31980;ACT64555;CAD38856;DAA01359;EAW94437;EAW94438;NP_001188386;NP_112562;NP_938207;Q8IWB6;XP_005257575;XP_005257576;XP_006722039;XP_006722040;XP_006722041 Hs.390221 1664395;1691712;1691728;1691766;1691768;1691770;1693844;1748935;1783464;1787874;1794012;5107171 G42200;G42210;G42237;G42239;G42240;G42610;G65775;GDB:372479;PMC310730P2;SHGC-110590;SHGC-112028;SHGC-173542 CT113 cancer/testis antigen 113;inactive serine/threonine-protein kinase TEX14;protein kinase-like protein SgK307;sugen kinase 307;testis expressed sequence 14;testis-expressed protein 14;testis-expressed sequence 14 APPROVED protein-coding ENSG00000121101 HGNC:11737 605792 REVIEWED 1322630 TEX15 testis expressed 15 INVOLVED IN fertilization (inferred); homeostasis of number of cells within a tissue (inferred); male genitalia development (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (+)-catechin; all-trans-retinoic acid; paraquat 8 8 8 p12 29649146 29666582 - 30688939 30770512 - 30831423 30912996 - 6480464;8554872 11279525;12477932;12704671;20378615;22581801;23402259 56154 D3DSV6;Q9BXT5 ABBA01023654;AC009314;AC090281;AF285605;AL133653;AMYH02017723;AMYH02017724;BC140934;BC141841;CH471080;NM_031271;XM_005273575;XM_005273576;XM_006716369;XM_006716370 AAI40935;AAI41842;AAK31984;EAW63431;EAW63432;NP_112561;Q9BXT5;XP_005273632;XP_005273633;XP_006716432;XP_006716433 Hs.458316;Hs.571446 1723345;1752711;1789462 G65776;RH118489;SHGC-106564 CT42;DKFZp434M2415 OTTHUMP00000225271;cancer/testis antigen 42;testis expressed sequence 15;testis-expressed sequence 15 protein protein-coding ENSG00000133863 HGNC:11738 09313 605795 VALIDATED 4110019 TEX16P testis expressed 16, pseudogene X X X q21.1 84212175 84256727 + 83972755 84017316 + 84717747 84762308 + 20210993 100499435 AMYH02039887;KF459187;KF459188;NG_023465;Z95126 2116966;2191699 AL022465;MARC_5255-5256:996690201:1 pseudo HGNC:37957 INFERRED 1603143 TEX19 testis expressed 19 INVOLVED IN cell differentiation (inferred); meiotic cell cycle (inferred); spermatogenesis (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH atrazine; cetrorelix; copper atom 17 17 17 q25.3 76910011 76913791 + 80317123 80321652 + 82359247 82363776 + 6480464 12477932;14702039;18096721;21555518 400629 Q8NA77 ABBA01019676;AC132938;AK093086;AMYH02034153;BC016939;BC036191;BC050391;BC057820;CH471099;NM_207459;XM_005256368 AAH16939;AAH36191;AAH50391;AAH57820;BAC04049;EAW89767;NP_997342;Q8NA77;XP_005256425 Hs.231897 FLJ35767 OTTHUMP00000163756;testis-expressed sequence 19 protein protein-coding ENSG00000182459 HGNC:33802 16940 615647 VALIDATED 1603633 TEX2 testis expressed 2 FOUND IN membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; all-trans-retinoic acid 17 17 17 q23.3 56612865 56728752 - 62224795 62340653 - 64147433 64263323 - 6480464 11214970;12477932;14702039;15489334;16449791;21832049 55852 J3KRY2;J3KRZ8;J3QKY0;Q8IWB9 AA825291;AB051525;ABBA01035308;AC016489;AC025362;AF163260;AF220182;AK000369;AK000758;AK091156;AK091214;AK314316;AL832371;AL834251;AMYH02033785;AMYH02033786;BC008896;BC033661;BC036672;BC040521;BC040522;BC108279;BX648260;CH471109;CR627433;HY021559;NM_001288732;NM_001288733;NM_018469;XM_005257507 AAF67647;AAH33661;AAH40521;AAI08280;AAQ13589;ACE87831;ACT64354;BAA91117;BAA91363;BAB21829;BAG52294;CAD38927;CAH10519;EAW94210;EAW94211;NP_001275661;NP_001275662;NP_060939;Q8IWB9;XP_005257564 Hs.175414 1666699;1715251;1734494;1736684;1753139;1850789;1856112;2127063;2170542;2182101;2182103;5037552 1974;A001Y03;AFMa122zh9;D17S1426E;D17S1446E;D17S1507E;D8S2279;G19770;RH119155;RH18294;SHGC-109994;SHGC-32117 DKFZp781G0721;HT008;KIAA1738;TMEM96 testis expressed sequence 2;testis-expressed sequence 2 protein;transmembrane protein 96 protein-coding ENSG00000136478 HGNC:30884 13716 VALIDATED 3436643 TEX21P testis expressed 21, pseudogene 14 14 14 q23.3 44869938 44872076 - 64812191 64814329 - 64345473 64347611 - 20210993 441687 AA405121;ABBA01018356;AL161756;AMYH02029354;BU615745;EG327503;NR_033777 Hs.685242 1646081;1776594;2125779;2180777 D14S867;G17813;G35554;G35871 pseudo HGNC:35455 VALIDATED 1603922 TEX26 testis expressed 26 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol; titanium dioxide (ortholog) 13 13 13 q12.3 12573379 12615677 + 31506834 31549639 + 30932697 30975502 + 6480464;8554872 12477932;15057823;15489334;17207965 122046 H0YE92;Q8N6G2 ABBA01010119;AL353680;AMYH02027802;AMYH02027803;BC030277;CH471075;NM_152325;XM_005266256 AAH30277;ADQ31591;EAX08475;NP_689538;Q8N6G2;XP_005266313 Hs.124463 1676420;1757201 RH93120;SHGC-144617 C13orf26;MGC40178 OTTHUMP00000018207;hypothetical protein LOC122046;testis-expressed sequence 26 protein;uncharacterized protein C13orf26 APPROVED protein-coding ENSG00000175664 HGNC:28622 17551 PROVISIONAL 5687810 TEX26-AS1 TEX26 antisense RNA 1 13 13 13 12523528 12573399 - 31456972 31506745 - 30882835 30932608 - 12477932;14702039 100507064 ABBA01010119;AK093165;AL353680;AMYH02027802;BC042736;DB522937;HG505511;HG505512;HG505519;HG505521;NR_038287;NR_038288 Hs.654878 1341943;1757201 D13S1229;SHGC-144617 LINC00447;RP11-252M21.4 APPROVED ncrna ENSG00000224743 HGNC:42784 VALIDATED 5132216 TEX22 testis expressed 22 FOUND IN acrosomal vesicle (inferred); INTERACTS WITH benzo[a]pyrene (ortholog) 14 14 14 q32.33 85913852 85929183 + 105864920 105880196 + 105398583 105413859 + 6480464 12477932 647310 C9J3V5;F8VX47 ABBA01008876;AL928654;AMYH02029966;BC009212;BC012979;BC015572;BX378619;NM_001195082;XM_006720234 C9J3V5;NP_001182011;XP_006720297 Hs.729499 OTTHUMP00000209233;hypothetical protein LOC647310;testis expressed gene 22;testis-expressed sequence 22 protein protein-coding ENSG00000226174 HGNC:40026 VALIDATED 1346300 TEX261 testis expressed 261 FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenous acid; atrazine; copper(2+) sulfate 2 2 2 p13.3 71063750 71072681 - 71213068 71222001 - 70985938 70994871 - 737633;6480464 12477932 12975309;14702039;15489334;16303743;9464256 113419 B2RDH4;F8WAR8;Q6UWH6 ABBA01075545;ABBA01075546;AC007040;AK056410;AK074840;AK303594;AK315543;AL080223;AL832385;AMYH02004048;AY358783;BC010656;BC020251;BC128461;BC128462;BG260090;BI552105;CH471053;NM_144582 AAH20251;AAI28462;AAI28463;AAQ89143;BAG37921;BAG52013;BAG64609;EAW99783;EAW99784;EAW99785;NP_653183;Q6UWH6 Hs.516087 1659523;2186900;2186902 Bda84a08;D2S2835;RH11693 MGC32043;TEG-261 OTTHUMP00000160121;OTTHUMP00000203492;testis expressed sequence 261 protein-coding ENSG00000144043 HGNC:30712 15491 VALIDATED 1347640 TEX264 testis expressed 264 FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; copper(2+) sulfate; valproic acid 3 3 3 p21.31 51682990 51716106 + 51705191 51738339 + 51671175 51704323 + 737633;6480464 12477932 12975309;14702039;15342556;15489334;16344560;16712791;17081983;17207965;18816836;24250222;8125298 51368 C9J7N0;C9JHH5;C9JL43;C9JUC3;C9JXQ7;Q53GI2;Q9Y6I9 AA463493;ABBA01024521;ABBA01024522;AC099050;AF072733;AK023786;AK023997;AK222938;AK222949;AL832608;AMYH02006791;AX881085;AY358972;BC001592;BC008742;BG326586;BG772477;BI826172;BP252919;CB142778;CH471055;DA894396;HY149215;NM_001129884;NM_001243725;NM_001243726;NM_001243727;NM_001278195;NM_015926;NR_024012;NR_103462;NR_103463;XM_006713195;XM_006713196;XM_006713197;XM_006713198 AAD22397;AAH08742;AAQ89331;ADQ32325;BAD96658;BAD96669;BAG51249;CAE91202;EAW65146;NP_001123356;NP_001230654;NP_001230655;NP_001230656;NP_001265124;NP_057010;Q9Y6I9;XP_006713258;XP_006713259;XP_006713260;XP_006713261 Hs.517864;Hs.733397 1652887;2109937;5022200;5022450;5022588;5037552 D10S275;D5S1597E;D8S2279;G27466;L18426;TEX264_9712 DKFZp451H0417;FLJ13935;SIG11;ZSIG11 OTTHUMP00000210973;OTTHUMP00000210974;OTTHUMP00000210975;OTTHUMP00000210976;OTTHUMP00000210979;OTTHUMP00000210980;putative secreted protein ZSIG11;testis expressed gene 264;testis expressed sequence 264;testis-expressed sequence 264 protein protein-coding ENSG00000164081 HGNC:30247 15492 VALIDATED 1342529 TEX28 testis expressed 28 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) X X X q28 153658352 153684506 - 153498930 153523564 - 154271265 154295211 - 8554872 12477932;15378397;15489334;16189514;17567994;19098318;9268643 1527 B1B1E7;O15482 AC092402;AC245140;BC026183;CH471172;DB457033;DQ655913;NM_001205201;NM_001586;U93720;Z46936;Z68193 AAB71379;AAH26183;ADZ15901;CAI41959;CAI43243;CAM26568;EAW72754;EAW72755;NP_001192130;NP_001577;O15482 Hs.672606;Hs.738440 1747697;1807958;1808376;1841008;2036110;2036112;2036114;2036116;2036118;2036120;2036122;2036124;2036126;2036128;2036130;2036132;2036134;2036136;2036138;2102380;2102386;2102390;2102392;2102394 ECD04957;ECD05169;ECD21697;G66672;REN89064;REN89065;REN89066;REN89067;REN89068;REN89069;REN89070;REN89071;REN89072;REN89073;REN89074;REN89075;REN89076;REN89077;REN89078;stSG603873;stSG603899;stSG603924;stSG603925;stSG603935 CXorf2;MRX99;TEX28P1;TEX28P2;fTEX OTTHUMP00000024239;OTTHUMP00000064895;chromosome x open reading frame 2;testis-specific protein TEX28 protein-coding ENSG00000278057 HGNC:2563 02103 300092;300919 VALIDATED 1604858 TEX28P2 testis expressed 28 pseudogene 2 X X X q28 153658352 153679975 - 153424684 153445634 - 154159207 154180155 - 15378397;16382448;9268643 653363 ABBA01045304;ABBA01045305;AC092402;AC244097;NG_005788;Z68193 1841008;2036110;2036112;2036114;2102380;2102386;2102392 ECD21697;REN89064;REN89065;REN89066;stSG603873;stSG603899;stSG603925 CXorf2B;pTEX pseudo HGNC:33357 INFERRED 1605740 TEX28P1 testis expressed 28 pseudogene 1 X X X q28 153658352 153679975 - 153461812 153482764 - 154196321 154217295 - 15378397;9268643 728447 AC092402;AC244097;NG_005787 1841008;2036110;2036112;2036114;2102380;2102386;2102392 ECD21697;REN89064;REN89065;REN89066;stSG603873;stSG603899;stSG603925 pTEX pseudo HGNC:33356 INFERRED 1353968 TEX29 testis expressed 29 FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; paracetamol 13 13 13 q34 92819927 92845111 + 111973015 111996594 + 111320668 111344247 + 6480464 12477932;15057823;15489334;17207965;19240061 121793 F2Z350;Q8N6K0 ABBA01026984;ABBA01026985;AL160395;AMYH02028715;BC029889;CH471085;NM_152324 AAH29889;ADQ31675;EAX09151;EAX09152;NP_689537;Q8N6K0 Hs.210677 C13orf16;MGC35169;bA474D23.1 OTTHUMP00000018720;hypothetical protein LOC121793;testis-expressed sequence 29 protein;uncharacterized protein C13orf16 APPROVED protein-coding ENSG00000153495 HGNC:20370 14603 PROVISIONAL 1605014 TEX30 testis expressed 30 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzene; benzo[a]pyrene 13 13 13 q33.1 84262890 84270580 - 103418460 103426168 - 102765888 102773821 - 6480464;8554872 12477932;15057823;15342556;15489334;17207965;21139048;24250222;24654937;8619474;9110174 93081 Q5JUR7;Q5JUS0 AA401719;ABBA01027070;AF070559;AK314995;AL157769;AMYH02028627;BC015148;BC048011;BG527702;BI559423;BI861260;BP363423;CH471085;HY045638;HY229390;NM_001286775;NM_001286776;NM_138779;NR_104590;XM_005254097 AAH15148;ADQ32815;BAG37491;EAX09064;EAX09065;EAX09066;NP_001273704;NP_001273705;NP_620134;Q5JUR7;XP_005254154 Hs.398111 2144763;5017767;5494140 C13orf27;RH135142;WI-20709 C13orf27 OTTHUMP00000018668;OTTHUMP00000018669;OTTHUMP00000018670;OTTHUMP00000018671;OTTHUMP00000018673;hypothetical protein LOC93081;testis-expressed sequence 30 protein;uncharacterized protein C13orf27 APPROVED protein-coding ENSG00000151287 HGNC:25188 14295 VALIDATED 1606105 TEX33 testis expressed 33 INTERACTS WITH 17beta-estradiol (ortholog) 22 22 22 q12.3 21188499 21205213 - 37387160 37403877 - 36991119 37007836 - 6480464 12477932;15461802;22332119 339669 H0Y6N4;O43247 ABBA01055457;ABBA01055458;AMYH02038328;AMYH02038329;BC042635;BE502000;BI827796;CH471095;CR456416;DB447439;HC007162;HC044573;NM_001163857;NM_178552;Z73420;Z82180 AAH42635;CAG30302;CBH19386;CBH30616;EAW60128;EAW60129;EAW60130;NP_001157329;NP_848647;O43247 Hs.124502 1698886 RH103010 C22orf33;EAN57;MGC35206;cE81G9.2 OTTHUMP00000197752;OTTHUMP00000197753;OTTHUMP00000197754;OTTHUMP00000197755;testis-expressed sequence 33 protein APPROVED protein-coding ENSG00000185264 HGNC:28568 17529 VALIDATED 1352588 TEX36 testis expressed 36 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH lead(0); lead(2+); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 10 10 10 q26.13 121119677 121147126 - 127265091 127371735 - 125576522 125683166 - 6480464;8554872 12477932;15164054;15489334;20379614;20708005;21382349 387718 E9PJL2;E9PR91;Q5VZQ5 AA977508;ABBA01034168;AK131010;AL158835;AL805915;AMYH02023994;BC062717;BC127766;BC127767;NM_001128202;XM_005269816;XM_005269817 AAH62717;AAI27767;AAI27768;NP_001121674;Q5VZQ5;XP_005269873;XP_005269874 Hs.148259 1735996;5017689 ALDOA;D10S1286E C10orf122;FLJ27500;MGC157877;MGC157878;bA383C5.1 OTTHUMP00000020702;OTTHUMP00000232193;OTTHUMP00000232194;putative uncharacterized protein C10orf122;testis-expressed sequence 36 protein APPROVED protein-coding ENSG00000175018 HGNC:31653 VALIDATED 1348676 TEX35 testis expressed 35 FOUND IN microtubule cytoskeleton; nucleus (ortholog); INTERACTS WITH copper(2+) sulfate 1 1 1 q25.2 151591311 151601733 + 178482212 178492635 + 178513077 178523500 + 6480464 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16381901;16710414;17077512;21145461;23251661;23455924 84066 E5RIH0;Q5T0J5;Q5T0J7;Q5T0K0 ABBA01027835;AK093269;AL136694;AL513013;AL552172;AMYH02002219;AW340027;AW628627;BC034972;BE041517;BI461686;BI825610;CH471067;NM_001170722;NM_001170723;NM_001170724;NM_032126 AAH34972;BAC04115;CAB66629;CAL37752;CAL38540;EAW91023;EAW91024;EAW91025;NP_001164193;NP_001164194;NP_001164195;NP_115502;Q5T0J7 Hs.534501 C1orf49;DKFZp564J047;FLJ40199;MGC26863;RP5-990P15.1;TSC24 OTTHUMP00000033042;OTTHUMP00000033043;OTTHUMP00000038521;OTTHUMP00000038522;Testis-Specific Conserved gene 24kDa;hypothetical protein LOC84066;testis-expressed sequence 35 protein;uncharacterized protein C1orf49 APPROVED protein-coding ENSG00000240021 HGNC:25366 13169 VALIDATED 1602971 TEX37 testis expressed 37 ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH methyl methanesulfonate; cadmium dichloride (ortholog) 2 2 2 p11.2 87957216 87962150 - 88824115 88829196 + 88524597 88529678 + 6480464;8554872 12477932;16189514;17091336;21832049 200523 Q96LM6 ABBA01018816;AC104134;AK058098;AMYH02004260;AW104588;BC029522;CH471215;HC006836;HC044825;NM_152670;XM_005264188;XM_006711964 AAH29522;AAY24330;ADZ15939;BAB71663;CBH19223;CBH30742;EAW77070;NP_689883;Q96LM6;XP_005264245;XP_006712027 Hs.132104 C2orf51;FLJ25369;TSC21 OTTHUMP00000160850;testis-expressed sequence 37 protein;testis-specific conserved gene 21kDa;testis-specific conserved protein of 21 kDa APPROVED protein-coding ENSG00000172073 HGNC:26341 08688 VALIDATED 2298822 TEX38 testis expressed 38 FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid 1 1 1 p33 45424851 45426604 + 47137497 47139266 + 46671825 46673594 + 6480464 12477932 374973 B7ZLT1;B7ZLT2;C9W8M6;H3BTK6;Q6PEX7 ABBA01050836;AI828862;AL593856;AMYH02000961;BC057818;BC067853;BC126318;BC144026;BC144027;FJ211596;NM_001145474;NM_001300863;NM_001300864;XM_005270845;XM_006710628 AAH57818;AAI26319;AAI44027;AAI44028;ACO25357;NP_001138946;NP_001287792;NP_001287793;Q6PEX7;XP_005270902;XP_006710691 Hs.443299 1699836;5493417 RH103525;UniSTS:486155 ATPAF1-AS1;C1orf223;THEG4 ATPAF1 antisense RNA 1;ATPAF1 antisense RNA 1 (non-protein coding);ATPAF1 antisense gene protein 1;hypothetical protein LOC374973;testis highly expressed protein 4;testis-expressed sequence 38 protein;uncharacterized protein ATPAF1-AS1 APPROVED protein-coding ENSG00000186118 HGNC:29589 VALIDATED 7772508 TEX36-AS1 TEX36 antisense RNA 1 10 10 10 q 121038359 121042433 + 127262940 127267014 + 125574371 125578445 + 12477932 100169752 ABBA01034167;ABBA01034168;AL805915;AMYH02023994;BC033977;HG503332;HG503333;NR_023362 Hs.652647 RP11-118H17.1 ncrna ENSG00000237675 HGNC:49500 VALIDATED 2302458 TEX40 testis expressed 40 INVOLVED IN male meiosis (ortholog); FOUND IN cytoplasm 11 11 11 q13.1 61394765 61395361 + 64067863 64072239 + 64300391 64304767 + 11076863;11230166;11256614;15489336;16381901;21949640;24250222 25858 F5H186;Q9NTU4 ABBA01003296;AL117564;AMYH02024932;AP001453;NM_001039496 CAB55995;CAL37866;NP_001034585;Q9NTU4 Hs.97174 1685067 RH92300 C11orf20;DKFZp566E164 OTTHUMP00000237530;OTTHUMP00000239505;hypothetical protein LOC25858;testis-expressed sequence 40 protein;uncharacterized protein C11orf20 APPROVED protein-coding HGNC:19231 VALIDATED 1605198 TEX43 testis expressed 43 INTERACTS WITH (+)-catechin 5 5 5 q23.2 121924031 121928585 + 125967414 125971974 + 126631722 126636282 + 12477932 389320 Q6ZNM6 ABBA01068900;AC099513;AK131015;AMYH02012141;AMYH02012142;BC130495;BC130497;CH471086;NM_207408 AAI30496;AAI30498;ADR82834;BAC85477;EAW48848;NP_997291;Q6ZNM6 Hs.177983 1684451 RH98376 C5orf48;FLJ27505;MGC163367;MGC163369;Tseg7 OTTHUMP00000159191;hypothetical protein LOC389320;testis specific expressed gene 7;uncharacterized protein C5orf48 APPROVED protein-coding ENSG00000196900 HGNC:33767 13399 PROVISIONAL 7245716 TEX41 testis expressed 41 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (+)-catechin 2 2 2 q22.3 139138482 139547204 + 145425534 145834296 + 144667967 145076729 + 8554872 12477932;19913121;20628086 401014 ABBA01028044;ABBA01028045;ABBA01028046;ABBA01028047;ABBA01028048;AC010090;AC012670;AC023128;AC074015;AC074093;AMYH02004922;AMYH02004923;AMYH02004924;AMYH02004925;BC043549;BQ438527;BX648102;HG494692;HG494697;HG494709;KF456715;KF456717;NR_033870 Hs.742290 1336038;1339764;1713539;1720099;1723811;1753681;7186732 D2S2313;D2S381;RH118643;RH120256;RH123791;SHGC-107566 AC074093.1;DKFZp686O1327;LINC00953 ncrna HGNC:48667 VALIDATED 1606392 TEX9 testis expressed 9 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; arsenite(3-) 15 15 15 q21.3 33546575 33627103 + 56536207 56739032 + 56244009 56445997 + 6480464;8554872 12477932;15489334;16189514;23455924;24068947 374618 H0YKG1;H0YLZ3;H0YM20;H0YND2;H3BS88;Q8N6V9 ABBA01039006;AC068726;AC084782;AK294960;AL832050;AMYH02030508;BC028119;CH471082;HY164049;KF456053;NM_001286449;NM_198524;XM_005254359;XM_005254361;XM_006720496 AAH28119;ADZ16097;BAG58034;EAW77500;NP_001273378;NP_940926;Q8N6V9;XP_005254416;XP_005254418;XP_006720559 Hs.511476 MGC40181 OTTHUMP00000162908;testis expressed sequence 9;testis-expressed sequence 9 protein protein-coding ENSG00000151575 HGNC:29585 15493 VALIDATED 1342593 TF transferrin This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009] 3 3 3 q22.1 131892092 131924970 + 133464977 133497850 + 133746133 133779006 + 1601513;1601536;1601514;1601524;1601529;1601537;1601520;1601532;1580863;1601515;1601518;6480464;6484113;7240710;7244198;7244377;7244386;7244379;7244383;7244177;7244387;7244194;7244197;7244196;7244154;8554872;8699517 11703331;14974364;16267817;16671451;16936158;17010319;17081048;17350134;17416791;17417667;22328173;22464783;22538758;22607047;22736466;22861364;23055815;23270806;23369046;23468095;23680589 10029548;10931525;11027676;11110675;11208127;11297622;11436564;11445282;11606717;11702220;11725818;11749962;11785295;11800564;11903051;11920219;11940510;12044175;12111369;12135367;12145410;12165535;12175089;12207902;12210842;12223217;12450380;12458193;12459033;12473103;12477932;12522210;12617162;12626412;12819023;12857860;12884526;12939601;12942785;12951205;14523999;14567694;14580189;14614458;14630798;14643898;14645044;14702039;14718574;14757931;14760718;14980223;15042587;15060098;15084671;15111541;15214509;15214510;15229288;15252009;15271890;15292400;15319290;15327995;15466165;15489334;15525538;15536627;15634274;15648851;15698609;15880641;15892129;15924420;15975770;1602151;16047113;16085060;16169070;16195351;16199891;16288727;16300393;16331960;16335952;16339299;16354665;16354686;16373913;16497717;16502470;16538641;16564538;16740002;17008590;17011669;17047092;17116317;17119318;17192785;17206377;17496814;17573378;17601350;17640392;17711300;17728504;17976429;17980706;18022819;18029348;18045615;18067952;1809186;18097132;18245657;18257091;18307987;18344013;18353773;18395717;18442477;18509548;1851757;18597674;18624398;18654083;18795173;18813964;18830724;18835036;18977241;19021568;19056867;19084217;19110265;19165391;19176989;19219998;19228837;19250966;19254567;19281173;19290554;1932003;19515372;19545871;19572083;19583819;19650928;19670106;19693784;19698254;19761807;19828835;19838776;19852572;19856410;19859668;19913121;19916167;19917294;19921860;20029940;20052609;20064616;20066543;20096706;20113254;20118108;20150920;20164577;20188707;20215856;20309589;20360068;20371432;20379614;20397659;20410508;20413850;20444258;20447458;20534741;20574532;20587610;20615872;20628086;20633231;20634490;20659343;20708639;20721554;20738776;20817350;20880607;21049900;21103663;21113232;21150319;21182205;21208937;21320285;21376789;21384276;21389980;21408069;21422745;21459485;21483845;21514009;21643746;21664032;21665994;21678080;21785125;21788477;21811575;21820158;21866866;21873562;21881004;21904748;21988832;22041858;22079093;22159020;22191507;22232660;22323359;22327295;22343719;22356162;22424853;22458330;22722730;22726553;22819264;22829284;22873711;22923205;23027680;23089144;23256035;23372701;23588470;23750785;23817740;23875541;23888904;24256706;24350254;24816145;24972167;2780570;2874839;3057819;3106157;3436225;3678832;3786138;3858812;5610700;5711079;5927288;6268632;6322780;6457647;6585826;6690479;6833213;6953407;7498159;8125298;8499451;8889548;9272172;9312001;9358047;9570576;9609685;9760232;9803271 7018 A0PJA6;C9JB55;C9JVG0;F8WC57;F8WCI6;F8WEK9;H7C5E8;P02787;Q06AH7 ABBA01059164;AC080128;AC083905;AF058327;AF118093;AF288144;AJ252279;AK126941;AK222755;AK293842;AK295334;AK295419;AK303753;AK312094;AMYH02007709;AMYH02007710;AMYH02007711;AY308797;BC020671;BC022262;BC045772;BC054870;BC059367;BU740589;BX537660;BX648533;CH471052;CR936810;DC352309;DQ525716;DQ923758;FB751514;GM662864;HH957975;HH957979;M11372;M12525;M12530;M17611;M17614;M21569;M21570;M26641;NG_013080;NM_001063;S95936;U88581;X04600 AAA61140;AAA61141;AAA61142;AAA61143;AAA61145;AAA61147;AAA61148;AAA61233;AAB22049;AAB97880;AAC63506;AAF22037;AAH20671;AAH59367;AAK77664;AAP45055;ABF47110;ABI97197;BAD96475;BAG35030;BAG57240;BAG58308;BAG58369;BAG64724;CAA28265;CAB96907;CAT02257;CAV33839;CBX51251;CBX51253;EAW79164;EAW79165;EAW79166;EAW79167;EAW79168;EAW79169;EAW79170;NP_001054;P02787 Hs.518267 1644800;1752421;1752423;1774433;2124244;2141528;2149708;2160098;2163303;2177943;5022578;5024039;5037552 D16S325;D1S1423;D3S4166;D8S2279;RH78748;SGC31261;SHGC-106312;SHGC-106360;SHGC-33327;SHGC-77354;STS-H55960;STS-R05291;STS-T64298 DKFZp781D0156;PRO1557;PRO2086;TFQTL1 OTTHUMP00000197155;beta-1 metal-binding globulin;serotransferrin;siderophilin APPROVED protein-coding ENSG00000091513 HGNC:11740 01811 190000;209300 REVIEWED 1605718 TFAM transcription factor A, mitochondrial This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 10 10 10 q21 53410112 53420833 + 60144903 60158990 + 58385143 58399230 + 5683621;6480464;6767567;6771173;2302400;6767573;6767572;6770890;6771184;6771185;6484267;6767574;6767568;5683906;6771188;6767575;6907045 17459894;17537576;18248889;18723421;18997871;20529956;21595933;21799244;21854834;21862610;22040668;22266265;22354563;22361577;22469910 11457459;11668394;11964388;11972329;12068295;12095695;12127986;12428064;12477932;12626705;12686611;12839966;12897151;12921794;14969715;15126285;15464268;15489334;15509786;15525513;15526033;15547250;15965051;16043643;1610904;16202542;16385451;16428295;16631115;17167045;17192785;17339235;1737790;17497594;17707600;18028422;18029348;18063578;18072287;18258228;18430995;18451773;18642640;18660489;18716221;18830724;18980857;19096125;19148128;19192634;19209188;19304746;19322201;19496804;19624753;19653005;19681768;19738201;19885567;19925850;20186120;20202876;2035027;20410300;20413850;20432700;20534741;20562347;20574532;20643228;20739229;20843780;20863902;20877624;20880607;20972266;20977898;21081181;21139048;21145461;21150319;21453679;21467167;21514422;21890473;21948790;22037171;22037172;22098591;22129993;22266811;22306509;22493245;22675199;22709542;22841477;22904065;22910359;23000965;23012404;23201127;23398456;23443559;23456168;23473034;23645454;23991223;24002170;24184878;24367550;24413562;24457600;24583282;24816145;24875355;2628167;3211148;3594571;7599198;7789991;7849699;7969115;8061564;8108407;8166737;8333869;8441424;8889548;9063738;9181464;9309692;9679658 7019 E5KSU5;H7BYN3;Q00059 AB451241;AB451366;ABBA01019436;ABBA01019437;AC023170;AK312558;AMYH02023156;BC018628;BC029815;BC104482;BC126366;BM455062;BT019658;BT019659;CH471083;CN478914;CR407653;CR736151;DB456976;EU279428;HQ206066;HQ206067;HQ206068;HQ206069;HQ206070;HQ206071;HQ206072;HQ206073;HQ206074;HQ206075;HQ206076;HQ206077;HQ206078;HQ206079;HQ206080;HQ206081;HQ206082;HQ206083;HQ206084;HQ206085;HQ206086;HQ206087;HQ206088;HQ206089;HQ206090;HQ206091;HQ206092;HQ206093;HQ206094;HQ206095;HQ206096;HQ206097;HQ206098;HQ206100;HQ206101;HQ206102;HQ206103;HQ206104;HQ206105;M62810;NM_001270782;NM_003201;NR_073073;X64269 AAA59849;AAH18628;AAI04483;AAI26367;AAV38464;AAV38465;ABX72056;ADP91974;ADP91975;ADP91976;ADP91977;ADP91978;ADP91979;ADP91980;ADP91981;ADP91982;ADP91983;ADP91984;ADP91985;ADP91986;ADP91987;ADP91988;ADP91989;ADP91990;ADP91991;ADP91992;ADP91993;ADP91994;ADP91995;ADP91996;ADP91997;ADP91998;ADP91999;ADP92000;ADP92001;ADP92002;ADP92003;ADP92004;ADP92005;ADP92006;ADP92008;ADP92009;ADP92010;ADP92011;ADP92012;ADP92013;ADR83509;BAG35455;BAG70055;BAG70180;CAA45562;CAG28581;EAW54171;EAW54172;EAW54173;EAW54174;EAW54175;NP_001257711;NP_003192;Q00059 Hs.594250 1650153;1654161;1664835;1682371;1688652;1694870;1780024;2161976;2179655;5021396 A007E45;AFMB080YD9;G44309;GDB:313783;RH48784;RH65397;RH69158;RH70235;SHGC-154285;STS-M62810 MtTF1;TCF-6;TCF6;TCF6L1;TCF6L2;TCF6L3;mtTFA OTTHUMP00000019632;OTTHUMP00000019633;OTTHUMP00000019634;Transcription factor 6-like 2 (mitochondrial transcription factor);mitochondrial transcription factor 1;mitochondrial transcription factor A;transcription factor 6;transcription factor 6-like 1;transcription factor 6-like 3 APPROVED protein-coding ENSG00000108064 HGNC:11741 02702 600438 REVIEWED 1345496 TFAMP1 transcription factor A, mitochondrial pseudogene 1 7 7 7 p22.3 1621059 1623281 + 1654106 1656328 + 1614470 1616692 + 10737800;12095695;2035027;8333869 260341 ABBA01039348;AC074389;AJ320516;AMYH02015056;CH236953;CV358951;NR_001288 Hs.534596 1654161;5015996 RH70235;Tfam MTTF1;TCF6L1 pseudo HGNC:11636 PROVISIONAL 1352310 TFAMP2 transcription factor A, mitochondrial pseudogene 2 11 11 11 q22.3 106930906 106932850 - 109776648 109778592 - 109905922 109907866 - 12095695 260340 ABBA01039844;AJ320517;AMYH02025565;AP001981;NG_007345 5015996 Tfam MTTF1;TCF6L3 pseudo HGNC:11638 INFERRED 7247789 TFAP2A-AS1 TFAP2A antisense RNA 1 6 6 6 p24.3 11641029 11644878 + 10412551 10416402 + 10412318 10416169 + 12477932;14702039 100130275 ABBA01022076;AI290592;AI368022;AK092393;AL138885;AMYH02013095;BC012200;BC037167;CH471087;HG498972;NR_033910 EAW55252;EAW55253 Hs.661431 RP1-290I10.6 ncrna HGNC:40579 VALIDATED 1314875 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008] 6 6 6 p12 52342514 52371233 + 50786439 50815326 + 50818726 50847613 + 1331350;1601544;1601543;1580863;6480464;7240710;8554872;8699517 10802654;16373417;8661133 11278660;11505339;11694877;11744733;12072434;12169688;12192491;12228234;12270648;12477932;12586840;14574404;14673213;15057523;15245963;15489334;15569994;15722186;15940393;16169070;16344560;16373396;16420676;16698963;16787706;16954217;17123722;17185054;17525748;17574780;17630431;17728669;18358611;18752453;19115315;19184334;19325541;19336370;19557161;19778525;20019683;20211142;20301285;20607706;20703240;20724581;20935630;21110914;21139048;21215182;21386085;21504541;21643846;21674055;21766608;21935397;21963094;22199100;22797727;22952648;22959235;23563607;24081236;24250222;24507797;7555706;7559606;7729426;8889548;9271117 7021 A8K557;Q92481;X6R4Y8 ABBA01050577;ABBA01050578;AJ278356;AK291172;AK313749;AL031224;AL049693;AMYH02013720;AU141084;BC037225;BU738725;CH471081;NG_008438;NM_003221;X95694;XM_006715176;XM_006715177;XM_006715178;Y09912 AAH37225;ABM82369;ABM85547;BAF83861;BAG36489;CAA64990;CAA71047;CAC01130;EAX04355;EAX04356;EAX04357;NP_003212;Q92481;XP_006715239;XP_006715240;XP_006715241 Hs.33102 1656721;1663834;1683409;1794484;1798268;2115575;5017927 PMC316415P4;RH46680;RH65802;RH74906;SGC31053;TFAP2B_2106;Tcfap2b AP-2B;AP2-B;MGC21381 AP2-beta;OTTHUMP00000016595;activating enhancer binding protein 2 beta;activating enhancer-binding protein 2-beta;transcription factor AP-2-beta APPROVED protein-coding ENSG00000008196 HGNC:11743 03360 169100;601601 REVIEWED 1321067 TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009] 6 6 6 p24 11625394 11648276 - 10393419 10419797 - 10396677 10419564 - 1580863;1578494;6480464;7240710;8554872;8699517 14752511 10037142;10567358;10987820;11278550;11438643;11447109;11604514;11744733;11973333;12072434;12145340;12203368;12221107;12226108;12228234;12358602;12475396;12477932;12586840;12595566;12843180;12960147;12975361;14517991;14551210;14744778;15039486;15331612;15498833;15548692;15569994;15671555;15705965;15809337;15864740;15870067;1587861;15930016;16108032;16236267;16260418;16325581;16361535;16497222;16502414;16533807;16636674;16707488;16867219;16946713;17097614;17224907;17318229;17355223;17513613;17556657;17621592;17651731;17695722;17719138;18029348;18036196;18042070;18275040;18310298;18316341;18358093;18423521;18443366;18515748;18620802;18639284;18718911;18781797;18836445;18955504;19074833;19089912;19115315;19154347;1916817;19206157;19228880;19322201;19351721;19363595;19376641;19411194;19443578;19471022;19578371;19654299;19672266;19685247;19742317;19763255;19786833;1998122;2010091;20145123;20358615;20376207;20398657;20448150;20564234;20607706;20634891;20635357;20731749;20805990;20808827;20932315;21084835;21110914;21204207;21250552;21303946;21363924;21375726;21634087;21654541;21659426;21683068;21693764;21728810;21777522;21781438;21829699;21850486;21876733;21940908;21963094;21966377;21979958;21987572;22191992;22323290;22359570;22484487;22575257;23036739;23151229;23275444;23382213;23578821;23660297;23660954;23680675;23764310;23824909;24163370;24335623;24529757;24654937;3063603;7555706;7559606;7729426;8087843;8190633;8321221;8661133;9169421;9490719;9520389;9632747;9830047 7020 C1K3N0;C9J6N8;C9JXZ2;F8WDC8;F8WEX2;H7C4N4;H7C5E5;P05549;Q96SH1 ABBA01022076;AK296737;AL138885;AMYH02013095;BC017754;BC071713;CB990517;CH471087;FJ794945;M36711;M61156;NG_016151;NM_001032280;NM_001042425;NM_003220;X52611;X77343;XM_006715175 AAA02487;AAA35539;AAH17754;ABM82025;ABM85207;ACN93799;BAH12422;CAA36842;CAB59735;EAW55248;EAW55249;EAW55250;EAW55251;NP_001027451;NP_001035890;NP_003211;P05549;XP_006715238 Hs.519880 1648485;1680204;1698640;1797218;2109939;2134497;2162795 G15872;RH102877;RH17802;RH68004;RH91941;TFAP2A;TFAP2A_7217 AP-2;AP-2alpha;AP2TF;BOFS;FLJ51761;TFAP2 AP-2 transcription factor;AP2-alpha;OTTHUMP00000016011;OTTHUMP00000016013;OTTHUMP00000016014;OTTHUMP00000214240;OTTHUMP00000214243;activating enhancer-binding protein 2-alpha;activator protein 2;transcription factor AP-2-alpha APPROVED protein-coding ENSG00000137203 HGNC:11742 00128 107580;113620 REVIEWED 1347905 TFAP2D transcription factor AP-2 delta (activating enhancer binding protein 2 delta) ENCODES a protein that exhibits RNA polymerase II regulatory region sequence-specific DNA binding (inferred); sequence-specific DNA binding RNA polymerase II transcription factor activity (inferred); INVOLVED IN inferior colliculus development (inferred); negative regulation of neuron apoptotic process (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); transcription factor complex (inferred); INTERACTS WITH arsenite(3-); ketamine (ortholog) 6 6 6 p12.1 52237300 52296828 + 50681257 50740746 + 50713544 50773033 + 6480464;8554872 11733187;12477932;16684505;17213182;21963094 83741 Q7Z6R9 ABBA01050579;ABBA01050580;AL031224;AMYH02013718;AMYH02013719;AY028376;BC144200;CH471081;DT221015;NM_172238 AAI66653;AAK16926;EAX04354;NP_758438;Q7Z6R9 Hs.434107 1339554;1713343;2125973;2130372;2174035;2218088 AFMA216YE5;AFMa053wf1;D6S948;G17067;RH120665;TFAP2BL1_2688 TFAP2BL1 AP-2 like;AP2-delta;OTTHUMP00000016593;activating enhancer binding protein 2 beta-like 1;activating enhancer-binding protein 2-delta;transcription factor AP-2 beta (activating enhancer binding protein 2 beta)-like 1;transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1;transcription factor AP-2-beta-like 1;transcription factor AP-2-delta protein-coding ENSG00000008197 HGNC:15581 11627 610161 VALIDATED 1346626 TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008] 20 20 20 q13.2 51944825 51954806 + 55204358 55214339 + 56629302 56639283 + 1331350;1580863;6480464;8554872 8661133 11095974;11278550;11694877;11744733;11773066;11780052;11859873;12072434;12226108;12228234;12477932;12490322;12586840;12801994;12833450;14565844;15489334;15548692;15569994;15700319;16636674;16867219;17848411;17875680;17947476;18042070;18443366;19115315;19130459;19322201;19443578;19458056;19471022;19671168;19798054;20629094;21363924;21468029;21572391;21693764;21963094;21988832;22371483;22379092;22560121;22702469;22878616;22964634;23036739;23334330;24023917;24045439;7846046;7891714;9113991 7022 A2A2R7;Q92754 AB041717;ABBA01052907;AF544986;AJ315934;AK301572;AK314272;AL121920;AMYH02037344;BC035664;BC051829;CH471077;NM_003222;U85658;X95693 AAC51305;AAH35664;AAH51829;AAN37906;BAC11805;BAG36933;BAG63065;CAA64989;CAC86997;EAW75532;NP_003213;Q92754 Hs.473152 1667209;1679605;2157436;2164588;2179838;2191129 MARC_14926-14927:1012938800:1;RH46523;RH47041;RH75698;STS-T50072;STS-X95693 AP2-GAMMA;ERF1;TFAP2G;hAP-2g OTTHUMP00000031355;activating enhancer-binding protein 2 gamma;estrogen receptor factor 1;transcription factor AP-2 gamma;transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma);transcription factor ERF-1 APPROVED protein-coding ENSG00000087510 HGNC:11744 03361 601602 REVIEWED 1352189 TFAP2E transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) ENCODES a protein that exhibits DNA binding (inferred); protein heterodimerization activity (inferred); protein homodimerization activity (inferred); INVOLVED IN positive regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH pirinixic acid; cholesterol (ortholog); disodium selenite (ortholog) 1 1 1 p34.3 34313365 34335296 + 36038971 36060929 + 35565863 35595328 + 737633;1580863;6480464;8554872 12477932 14636996;20862309;21963094;22216841;23331625 339488 Q6VUC0 ABBA01023337;ABBA01023338;AC004865;AL157951;AMYH02000767;AMYH02000768;AY326454;BC041175;CH471059;NM_178548;XM_006710602 AAH41175;AAQ91614;EAX07409;NP_848643;Q6VUC0;XP_006710665 Hs.567844 AP2E;MGC49007 AP2-epsilon;OTTHUMP00000004609;activating enhancer-binding protein 2-epsilon;adaptor-related protein complex 2, epsilon subunit;transcription factor AP-2-epsilon protein-coding ENSG00000116819 HGNC:30774 18174 614428 VALIDATED 1351892 TFB1M transcription factor B1, mitochondrial The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010] 6 6 6 q25.1-q25.3 156313087 156369927 - 155574495 155635631 - 155253361 155314497 - 1580863;6480464;8554872 10810093;11809803;12068295;12477932;12496758;12532263;12897151;14574404;14702039;15110318;15489334;15684387;17557812;18063578;18980857;19096125;19417006;19681768;20843780;20877624;21139048;21145461;21195351;25027693 51106 E5KTM5;Q8WVM0 AA405744;ABBA01025583;ABBA01025584;AF151833;AK022993;AK289484;AL139101;AL596202;AMYH02014790;AMYH02014791;BC005183;BC017788;BC054007;BU849912;CA430614;CH471051;HG499813;HQ206306;HQ206307;HQ206308;HQ206309;HQ206310;HQ206311;HQ206312;HQ206313;HQ206314;HQ206315;HQ206316;HQ206317;HQ206318;HQ206319;HQ206320;HQ206321;HQ206322;HQ206323;HQ206324;HQ206325;HQ206326;HQ206327;HQ206328;HQ206329;HQ206330;HQ206331;HQ206332;HQ206333;HQ206334;HQ206335;HQ206336;HQ206337;HQ206338;HQ206339;HQ206340;HQ206341;HQ206342;HQ206343;HQ206344;HQ206345;NG_027528;NM_016020;XM_005267005;XM_005267006 AAD34070;AAH05183;AAH17788;ABM82896;ABM86085;ADP92254;ADP92255;ADP92256;ADP92257;ADP92258;ADP92259;ADP92260;ADP92261;ADP92262;ADP92263;ADP92264;ADP92265;ADP92266;ADP92267;ADP92268;ADP92269;ADP92270;ADP92271;ADP92272;ADP92273;ADP92274;ADP92275;ADP92276;ADP92277;ADP92278;ADP92279;ADP92280;ADP92281;ADP92282;ADP92283;ADP92284;ADP92285;ADP92286;ADP92287;ADP92288;ADP92289;ADP92290;ADP92291;ADP92292;ADP92293;BAF82173;EAW47690;NP_057104;Q8WVM0;XP_005267062;XP_005267063 Hs.279908;Hs.655297 1656194;1688700;1769574;1846880;2118801;2171392 A004I02;G31560;RH1528;RH15868;RH65775;RH92066 CGI-75;CGI75;RP11-477D19.2;h-mtTFB;h-mtTFB1;hTFB1M;mtTFB;mtTFB1 OTTHUMP00000017473;S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1;dimethyladenosine transferase 1, mitochondrial;homolog of yeast mitochondrial transcription factor B;mitochondrial 12S rRNA dimethylase 1;mitochondrial dimethyladenosine transferase 1;mitochondrial transcription factor B1 APPROVED protein-coding HGNC:17037 09515 607033 REVIEWED 1316077 TFB2M transcription factor B2, mitochondrial ENCODES a protein that exhibits poly(A) RNA binding; transcription cofactor activity; INVOLVED IN positive regulation of transcription, DNA-templated; transcription from mitochondrial promoter; transcription initiation from mitochondrial promoter; FOUND IN mitochondrial matrix; mitochondrial nucleoid; INTERACTS WITH 2,6-di-tert-butyl-4-methylphenol; all-trans-retinoic acid; copper(2+) sulfate 1 1 1 q44 219991213 220016913 - 246703863 246729565 - 246540561 246566263 - 1580863;6480464 12068295;12477932;12532263;12897151;14702039;15489334;15526033;15684387;16344560;16710414;17031457;17557812;18063578;18980857;19096125;19417006;19624753;19681768;20410300;20877624;21145461;21890473;22268729;22904065;24250222;24413562;24816145 64216 Q9H5Q4 ABBA01047152;AF529366;AK026314;AK026835;AK300238;AL356583;AMYH02003114;BC003383;CH471148;CK725134;DA038232;KF455193;NM_022366 AAH03383;AAQ09600;ABZ92047;BAB15441;BAB15566;BAG62006;EAW77149;EAW77150;EAW77151;EAW77152;EAW77153;NP_071761;Q9H5Q4 Hs.7395 1340268;1699588 D8S1021;RH103395 FLJ22661;FLJ23182;Hkp1;h-mtTFB;h-mtTFB2;hTFB2M;mtTFB2 HCV NS5A-transactivated protein 5;OTTHUMP00000037974;S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 2;dimethyladenosine transferase 2, mitochondrial;hepatitis C virus NS5A-transactivated protein 5;mitochondrial 12S rRNA dimethylase 2;mitochondrial transcription factor B2 protein-coding ENSG00000162851 HGNC:18559 09520 607055 VALIDATED 1315527 TFCP2 transcription factor CP2 This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease. [provided by RefSeq, Mar 2010] 12 12 12 q13 50288768 50369062 - 51487539 51566926 - 51093756 51173143 - 1580863;6480464 10455131;10888618;11001930;11003662;11283204;11574690;11865070;11884454;11940654;12393799;12477932;12555245;12661759;15489334;15857981;16169070;16263792;16272261;16344560;16648487;16710089;16713569;16973241;1732747;17456737;17902044;18164103;18307033;18629613;18787404;19471022;19505873;19889475;19902333;20195357;20211142;20404171;20562859;20661472;21139048;21703197;21876634;22167195;22242598;22396589;24722188;7828600;8035790;8114710;8157699;8289393;8586452;9371597;9685356 7024 AAB29976;F8VWL0;F8VX55;Q12800 ABBA01031599;ABBA01031600;ABBA01031601;ABBA01031602;AC087884;AC139768;AK291264;AK308087;AMYH02026479;AMYH02026480;AU133131;BC003634;BX479302;CH471111;M84810;NG_029908;NM_001173452;NM_001173453;NM_005653;U03494;U03495 AAA21324;AAA21325;AAB29976;AAH03634;BAF83953;EAW58174;EAW58175;EAW58176;EAW58177;EAW58178;NP_001166923;NP_001166924;NP_005644;Q12800 Hs.48849 1670610;1700394;1743799;1748363;1777296;1849804;2147785;2181278;5020234;5117158 D12S2144;G15984;G64226;GDB:373799;GDB:450224;RH103817;RH67931;RH71191;SHGC-17241;SHGC-17299 CP2;LBP-1C;LBP1C;LSF;LSF1D;SEF;TFCP2C OTTHUMP00000241709;OTTHUMP00000241710;OTTHUMP00000241711;OTTHUMP00000241712;SAA3 enhancer factor;alpha-globin transcription factor CP2 APPROVED protein-coding ENSG00000135457 HGNC:11748 01790 189889 REVIEWED 1318080 TFAP4 transcription factor AP-4 (activating enhancer binding protein 4) Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009] 16 16 16 p13 4514186 4529994 - 4307187 4323001 - 4257186 4273000 - 1580863;6480464 10438607;11171123;12477932;12663744;14645924;15302935;15489334;15616553;16344560;16540471;16924111;17081983;18052253;18187620;18480385;18818310;19322201;19471022;19505873;19615732;21139048;2123466;21336989;21719561;21890473;22077140;22242598;22615908;22939629;23000965;23055200;23752226;23949224;24065543;24500709;2833704;7933101;8786101;9482665;9931457 7023 I3L254;I3L301;I3L4L6;Q01664 AB209146;ABBA01026763;ABBA01026764;AC004653;AC009171;AK309301;AMYH02031319;BC010576;BC039696;BU159415;CH471112;CR541726;DA449763;NM_003223;S73885;X57435 AAB32235;AAC17116;AAH10576;ABM84543;ABM86219;BAD92383;CAA40683;CAG46527;EAW85320;EAW85321;EAW85322;NP_003214;Q01664 Hs.513305 1775764 STS-S73885 AP-4;bHLHc41 OTTHUMP00000159805;activating enhancer-binding protein 4;class C basic helix-loop-helix protein 41;transcription factor AP-4;transcription factor AP-4 (activating enhancer-binding protein 4) APPROVED protein-coding ENSG00000090447 HGNC:11745 11795 600743 VALIDATED 1313494 TFCP2L1 transcription factor CP2-like 1 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); transcription corepressor activity (inferred); INVOLVED IN cell morphogenesis (inferred); cytoplasm organization (inferred); determination of adult lifespan (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); membrane (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; methylmercury chloride; progesterone 2 2 2 q14 115298911 115367497 - 121974163 122042778 - 121216587 121285202 - 1580863;6480464;8554872 10644752;11073954;1173954;12477932;15471945;15489334;15815621;18004979;18029348;19505873;20661472;21988832;22939629;23001997 29842 Q53RS7;Q9NZI6 ABBA01032232;ABBA01032233;ABBA01032234;ABBA01032235;ABBA01032236;AC013399;AC079988;AF198488;AK311692;AL137740;AMYH02004672;BC020554;BC064698;BM055156;CH471103;NM_014553;XM_005263651;XM_005263652;XM_006712459 AAF32275;AAH64698;AAX88871;AAY24072;ABZ92231;CAI46212;EAW95250;EAW95251;NP_055368;Q9NZI6;XP_005263708;XP_005263709;XP_006712522 Hs.156471 1761541;1776514;2156710;2218820 D2S2765;SHGC-145539;SHGC-58087;TFCP2L1__5244 CRTR-1;CRTR1;LBP-9;LBP9 CP2-related transcriptional repressor 1;OTTHUMP00000207296;transcription factor CP2-like protein 1;transcription factor LBP-9 protein-coding ENSG00000115112 HGNC:17925 18175 609785 VALIDATED 1345068 TFDP1P transcription factor Dp-1 pseudogene 1 1 1 q32.2 182636310 182638714 + 209405458 209407862 + 209232113 209234517 + 9027491 391158 ABBA01048221;AC092810;AMYH02002595;NG_009284;U58192 pseudo HGNC:11750 INFERRED 1346598 TFDP1 transcription factor Dp-1 This gene encodes a member of a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan 2009] 13 13 13 q34 95066242 95123044 + 114239003 114295788 + 113584688 113641473 + 1580863;6480464;6907045 10082561;10540350;11042687;11331592;12004135;12029633;12150994;12477932;12607600;14618416;15203218;15489334;15536069;15863509;16135794;16360038;17187060;17531812;18687693;19322201;19738611;19995430;20379614;20513349;21715488;21890473;21906983;21963094;21988832;22094256;22325352;22505724;22629304;22939629;23934193;24250222;24816145;7739537;7760804;7892279;7958924;7958925;8039504;8405995;8413592;8755520;8816502;8816798;8832394;8846921;8896460;9027491;9190208;9199321;9501179;9704927;9780002;9989809 7027 F5H452;Q14186;Q5JSB5;Q5JSB6 ABBA01019873;AF550129;AK297114;AK298521;AK310401;AK313742;AL442125;AMYH02028747;BC011685;BC036601;CD623680;CH471085;L23959;NG_029909;NM_007111;NR_026580;XM_005268326;XM_005268327;XM_005268328;XM_005268330;XM_005268331;XM_006719977;XM_006719978 AAA58440;AAH11685;AAN46090;ABM83791;ABM87113;BAG59621;BAH12805;EAX09216;EAX09217;EAX09218;EAX09219;NP_009042;Q14186;XP_005268383;XP_005268384;XP_005268385;XP_005268387;XP_005268388;XP_006720040;XP_006720041 Hs.79353 1338959;1759387;1847567;2132268;2155745;2180308;5096051;5124043;5493433 D13S1446;D13S293;HSC0VG072;RH1609;RH17637;RH70183;RH78077;SHGC-150653;UniSTS:486219 DP1;DRTF1;Dp-1 DRTF1-polypeptide 1;E2F dimerization partner 1;E2F-related transcription factor;OTTHUMP00000018765;OTTHUMP00000018767 APPROVED protein-coding ENSG00000198176 HGNC:11749 01792 189902 REVIEWED 1353749 TFDP3 transcription factor Dp family, member 3 This gene encodes a member of the DP family of transcription factors. These factors heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. This protein functions as a negative regulator and inhibits the DNA binding and transcriptional activities of E2F factors.[provided by RefSeq, May 2010] X X X q26.2 132737132 132738811 - 132350697 132352376 - 133216669 133218348 - 6480464 12097419;12477932;16418725;17062573;17632080;20559320;22482402;22939624;23212661;23503679;24406621 51270 Q5H9I0 ABBA01042308;AF219119;AMYH02040510;BC074762;BC117336;BC126361;CH471107;NG_021355;NM_016521;Z77249 AAF37562;ABZ92371;EAX11773;NP_057605;Q5H9I0 Hs.142908 5492677;5493433 UniSTS:481962;UniSTS:486219 CT30;DP4;E2F-like;HCA661;MGC161639 OTTHUMP00000024051;cancer/testis antigen 30;hepatocellular carcinoma-associated antigen 661;transcription factor Dp family member 3 APPROVED protein-coding ENSG00000183434 HGNC:24603 06623 300772 REVIEWED 1314075 TFDP2 transcription factor Dp-2 (E2F dimerization partner 2) The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 3 3 3 q23 140087011 140291943 - 141663270 141868386 - 141944428 142149544 - 1580863;6480464;6907045 10090723;12036888;12477932;12927774;14702039;15489334;15489335;16344560;16360038;16482218;17207965;17531812;18187620;18316326;19738611;20383146;21890473;24816145;7739537;7784053;8755520;9027491;9368098;9501179;9689056;9704927 7029 C9J461;C9J5D5;C9J872;C9J977;C9JCY5;C9JNB6;C9JTZ9;F8WAY9;H7C5C2;Q14188;R4GN09 ABBA01059033;ABBA01059034;ABBA01059035;ABBA01059036;ABBA01059037;ABBA01059038;AC108679;AC112504;AC128648;AC133435;AK096450;AK303181;AK303634;AK314786;AL080206;AMYH02007810;AMYH02007811;AMYH02007812;AW673504;AY509596;BC007976;BC013993;BC021113;BC040991;BX647881;CH471052;DA321332;DC319314;HG496116;L40386;NM_001178138;NM_001178139;NM_001178140;NM_001178141;NM_001178142;NM_006286;U18422;U35117;XM_005247731;XM_005247733;XM_005247734;XM_005247735;XM_006713737 AAA69016;AAB60378;AAC50642;AAH21113;AAR89905;ABZ92192;BAH13914;BAH14001;BAI47157;CAB45775;EAW78977;EAW78978;EAW78979;EAW78980;EAW78981;NP_001171609;NP_001171610;NP_001171611;NP_001171612;NP_001171613;NP_006277;Q14188;XP_005247788;XP_005247790;XP_005247791;XP_005247792;XP_006713800 Hs.379018 1648939;1680575;1688684;1769788;1849301;1850853;2120442;2171856;2184020;5014051;5014740;5015404;5015619;5015869;5015961;5016478;5017266;5020274;5020946;5022200;5022322;5022576;5022578;5022588;5037552;5115329 D11S2560;D11S3114;D15S1477;D17S610;D1S1361;D1S1423;D3S3889;D5S1597E;D8S2278;D8S2279;GDB:313261;GDB:434012;L17705;L17971;L18426;L18441;L18494;L18506;RH12808;RH48613;RH79762;RH91378;SHGC-52441;SHGC-57246;STS-H65503;STS-Z40750 DKFZp313O196;DP2;Dp-2;FLJ39131;RP11-271K21.11 OTTHUMP00000214071;OTTHUMP00000214072;OTTHUMP00000214074;OTTHUMP00000214123;OTTHUMP00000214124;OTTHUMP00000214250;OTTHUMP00000214253;OTTHUMP00000214255;transcription factor Dp-2 APPROVED protein-coding ENSG00000269905 HGNC:11751 03696 602160 REVIEWED 1351703 TFE3 transcription factor binding to IGHM enhancer 3 This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X p11.22 52763508 52778256 + 48886237 48900990 - 49028726 49043517 - 1599384;1580863;6480464;8699517;7240710 12917640 10506710;10557285;10644981;10973944;11018012;11244503;11313885;11358836;11467950;11748221;11801598;11818452;11930005;12477932;12551947;12748276;15324660;15507434;15747097;15782069;16327801;1672758;16737956;16766266;1685140;17046750;17353931;17905124;18029348;18176180;18187620;18278810;18358634;18510571;18930356;19332055;19396149;19422821;19788626;19809274;20014561;2044953;20620589;20871214;21070573;21209915;21279521;21299348;21555518;21602817;21693764;21835426;22037260;22173238;22207547;22297304;22446944;22456611;22498819;22995920;23192203;23288701;2338243;23451753;23598965;23711163;23715164;23737213;23828314;24228124;24250222;24339735;24448649;7490085;7587394;8336698;8872474;8986805;9393982;9765209;9806910 7030 B4DIA5;P19532;Q5JU74 ABBA01046103;ABBA01046104;ABBA01046105;AC146820;AC231657;AC233294;AF196779;AK295497;AK310095;AK313540;AL161985;AMYH02039318;BC001532;BC026027;BM904206;BX572102;CH471224;HY157114;NG_016297;NM_001282142;NM_006521;X51330;X96717;X97160;X99721;XM_006724549 AAH26027;ABZ92029;ACE86523;ACE87202;BAG36317;BAG58417;CAA35714;CAA65478;CAA65800;CAA68061;CAI46207;EAW50711;EAW50712;EAW50713;EAW50714;NP_001269071;NP_006512;P19532;XP_006724612 Hs.730740 1663612;1793722;1848395;2113232;2180735 DXS8225;DXS9784;DXS9891E;PMC26398P1;SHGC-32925 RCCP2;RCCX1;TFEA;bHLHe33 OTTHUMP00000024272;Transcription factor for IgH enhancer;class E basic helix-loop-helix protein 33;transcription factor E family, member A;transcription factor E3;transcription factor for immunoglobulin heavy-chain enhancer 3 APPROVED protein-coding ENSG00000068323 HGNC:11752 02439 300854;314310 REVIEWED 1319997 TFEB transcription factor EB ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; INVOLVED IN lysosome organization; positive regulation of autophagy; positive regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (+)-catechin; 17beta-estradiol; elemental selenium 6 6 6 p21 43205150 43257434 - 41651716 41703997 - 41683978 41736259 - 1580863;6480464;8554872 10707962;12477932;12719541;12837690;14574404;14702039;15118077;15489334;15644781;17285572;18839057;19396149;19556463;2115126;21617040;21752829;21889421;22101272;22343943;22446944;22576015;22692423;22786682;23381957;23393155;23444366;23602568;24055709;24558044;8530024;9806910 7942 B0QYS6;B0QYS7;B1AKA7;B1AKA9;B1AKB1;B1AKB2;B1AKB4;B1AKB5;F6RFE3;P19484;Q709A8;Q709A9 AA235980;ABBA01050748;ABBA01050749;ABBA01050750;AJ535461;AJ608786;AJ608787;AJ608788;AJ608789;AJ608790;AJ608791;AJ608792;AJ608793;AJ608794;AK095061;AK298390;AK310063;AL035588;AL365205;AMYH02013609;AW294760;BC006225;BC032448;BU527754;CH471081;CT000098;M33782;NM_001167827;NM_001271943;NM_001271944;NM_001271945;NM_007162;XM_005249411;XM_005249412;XM_006715212;XM_006715213 AAA36730;AAH06225;AAH32448;ABZ92196;BAG52979;BAG60625;CAD59560;CAE77672;CAE77673;CAE77674;CAE77675;CAE77676;CAE77677;CAE77678;CAE77679;CAE77681;EAX04055;EAX04056;EAX04057;EAX04058;NP_001161299;NP_001258872;NP_001258873;NP_001258874;NP_009093;P19484;XP_005249468;XP_005249469;XP_006715275;XP_006715276 Hs.485360 1298134;1675690;1703182;1742149;1796924;1800596;1801112;1801346;1801898;1803106;1804178;1806740;1807938;1808216;1808364;1809218;1811054;1811296;1811500;1812148;1812712;1813218;1815300;1816610;1816678;1817538;1818416;1818472;1818994;1819048;1820332;1821112;1821778;1823798;1823856;1824146;1824616;1824860;1826752;1828046;1828644;1829518;1829520;1829672;1830044;1833058;1833462;1833904;1834288;1835558;1837006;1837130;1837228;1839574;1839702;1839894;1840234;1840630;1842774;1843190;1844198;1844944;1845732;1846494;1979238;1979240;1979242;1979244;1979246;1979248;1979250;1979252;1979254;1979256;1979258;1979260;1979262;1979264;1979266;1979268;1979270;1979272;1979274;1979276;1979278;1979280;1979282;1979284;1979286;1979288;1979290;1979292;1979294;1979296;1979298;1979300;1979302;1979304;1979306;1979308;1979310;1979312;1979314;1979316;1979318;1979320;1979322;1979324;1979326;1979328;1979330;1979332;1979334;1979336;1979338;1979340;1979342;1979344;1979346;1979348;1979350;1979352;1979354;1979356;1979358;1979360;1979362;1979364;1979366;1979368;1979370;1979372;1979374;1979376;1979378;1979380;1979382;1979384;1979386;1979388;1979390;1979392;1979394;1979396;1979398;1979400;1979402;1979404;1979406;1979408;1979410;1979412;1979414;1979416;1979418;1979420;1979422;1979424;1979426;1979428;1979430;1979432;1979434;1979436;1979438;1979440;1979442;1979444;1979446;1979448;1979450;1979452;1979454;1979456;1979458;1979460;1979462;1979464;1979466;1979468;1979470;1979472;1979474;1979476;1979478;1979480;1979482;1979484;1979486;1979488;1979490;1979492;1979494;1979496;1979498;1979500;1979502;1979504;1979506;1979508;1979510;1979512;1979514;1979516;1979518;1979520;1979522;1979524;1979526;1979528;1979530;1979532;1979534;1979536;1979538;1979540;1979542;1979544;1979546;1979548;1979550;1979552;1979554;1979556;1979558;1979560;1979562;1979564;1979566;1979568;1979570;1979572;1979574;1979576;1979578;1979580;1979582;1979584;1979586;1979588;1979590;1979592;1979594;1979596;1979598;1979600;1979602;1979604;1979606;1979608;1979610;1979612;1979614;1979616;1979618;1979620;1979622;1979624;1979626;1979628;1979630;1979632;1979634;1979636;1979638;1979640;1979642;1979644;1979646;1979648;1979650;1979652;1979654;1979656;1979658;1979660;1979662;1979664;1979666;1979668;1979670;1979672;1979674;1979676;1979678;1979680;1979682;1979684;1979686;1979688;1979690;1979692;1979694;1979696;1979698;1979700;1979702;1979704;1979706;1979708;1979710;2172051;2173384;2175620;2216128;2216130;2216132;2216134;2216136;2216138;2216140;2216142;2216144;2216146;2216148;2216150;2216152;2216154;2216156;2216158;2216160;2216162;2216164;2216166;2216168;2216170;2216172;2216174;2216176;2216178;2216180;2216182;2216184;2216186;2216188;2216190;2216192;2216194;2216196;2216198;2216200;2216202;2216204;2216206;5037552 D6S1017;D8S2279;ECD01159;ECD01425;ECD01545;ECD01830;ECD02444;ECD03009;ECD04328;ECD04944;ECD05089;ECD05163;ECD05599;ECD06525;ECD06646;ECD06750;ECD07079;ECD07367;ECD07629;ECD08686;ECD09347;ECD09382;ECD09819;ECD10266;ECD10297;ECD10562;ECD10590;ECD11241;ECD11633;ECD11975;ECD12991;ECD13020;ECD13169;ECD13406;ECD13529;ECD14490;ECD15146;ECD15449;ECD15890;ECD15891;ECD15968;ECD16155;ECD17671;ECD17874;ECD18098;ECD18292;ECD18935;ECD19667;ECD19730;ECD19781;ECD20970;ECD21034;ECD21130;ECD21301;ECD21505;ECD22594;ECD22803;ECD23312;ECD23688;ECD24085;ECD24468;GDB:192406;REN60510;REN60511;REN60512;REN60513;REN60514;REN60515;REN60516;REN60517;REN60518;REN60519;REN60520;REN60521;REN60522;REN60523;REN60524;REN60525;REN60526;REN60527;REN60528;REN60529;REN60530;REN60531;REN60532;REN60533;REN60534;REN60535;REN60536;REN60537;REN60538;REN60539;REN60540;REN60541;REN60542;REN60543;REN60544;REN60545;REN60546;REN60547;REN60548;REN60549;REN60550;REN60551;REN60552;REN60553;REN60554;REN60555;REN60556;REN60557;REN60558;REN60559;REN60560;REN60561;REN60562;REN60563;REN60564;REN60565;REN60566;REN60567;REN60568;REN60569;REN60570;REN60571;REN60572;REN60573;REN60574;REN60575;REN60576;REN60577;REN60578;REN60579;REN60580;REN60581;REN60582;REN60583;REN60584;REN60585;REN60586;REN60587;REN60588;REN60589;REN60590;REN60591;REN60592;REN60593;REN60594;REN60595;REN60596;REN60597;REN60598;REN60599;REN60600;REN60601;REN60602;REN60603;REN60604;REN60605;REN60606;REN60607;REN60608;REN60609;REN60610;REN60611;REN60612;REN60613;REN60614;REN60615;REN60616;REN60617;REN60618;REN60619;REN60620;REN60621;REN60622;REN60623;REN60624;REN60625;REN60626;REN60627;REN60628;REN60629;REN60630;REN60631;REN60632;REN60633;REN60634;REN60635;REN60636;REN60637;REN60638;REN60639;REN60640;REN60641;REN60642;REN60643;REN60644;REN60645;REN60646;REN60647;REN60648;REN60649;REN60650;REN60651;REN60652;REN60653;REN60654;REN60655;REN60656;REN60657;REN60658;REN60659;REN60660;REN60661;REN60662;REN60663;REN60664;REN60665;REN60666;REN60667;REN60668;REN60669;REN60670;REN60671;REN60672;REN60673;REN60674;REN60675;REN60676;REN60677;REN60678;REN60679;REN60680;REN60681;REN60682;REN60683;REN60684;REN60685;REN60686;REN60687;REN60688;REN60689;REN60690;REN60691;REN60692;REN60693;REN60694;REN60695;REN60696;REN60697;REN60698;REN60699;REN60700;REN60701;REN60702;REN60703;REN60704;REN60705;REN60706;REN60707;REN60708;REN60709;REN60710;REN60711;REN60712;REN60713;REN60714;REN60715;REN60716;REN60717;REN60718;REN60719;REN60720;REN60721;REN60722;REN60723;REN60724;REN60725;REN60726;REN60727;REN60728;REN60729;REN60730;REN60731;REN60732;REN60733;REN60734;REN60735;REN60736;REN60737;REN60738;REN60739;REN60740;REN60741;REN60742;REN60743;REN60744;REN60745;REN60746;RH46782;RH93544;SGC32293;SHGC-35331;TFEB_1087;WI-21675;stSG634932;stSG634933;stSG634934;stSG634936;stSG634937;stSG634938;stSG634939;stSG634940;stSG634941;stSG634942;stSG634943;stSG634944;stSG634945;stSG634946;stSG634947;stSG634948;stSG634949;stSG634950;stSG634951;stSG634953;stSG634954;stSG634956;stSG634957;stSG634958;stSG634959;stSG634960;stSG634961;stSG634962;stSG634963;stSG634964;stSG634965;stSG634966;stSG634967;stSG634968;stSG634969;stSG634970;stSG634971;stSG634972;stSG634973;stSG634974 AlphaTFEB;TCFEB;bHLHe35 OTTHUMP00000016379;OTTHUMP00000043540;OTTHUMP00000043541;OTTHUMP00000043542;OTTHUMP00000071325;OTTHUMP00000071327;OTTHUMP00000196417;OTTHUMP00000196419;T-cell transcription factor EB;class E basic helix-loop-helix protein 35 protein-coding ENSG00000112561 HGNC:11753 02847 600744 VALIDATED 735415 TFEC transcription factor EC This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 7 7 7 q31.2 110382578 110478171 - 115575202 115799950 - 115935148 116030813 - 1580863;6480464;8554872 11467950;11818452;12477932;12690205;12853948;15118077;21670463;21988832;8336698;9256061;9806910 22797 B7Z757;O14948 ABBA01057813;ABBA01057814;AC073141;AC096551;AJ608795;AK301479;AK313546;AMYH02016622;BC029891;BX538223;CH236947;CH471070;CR933605;D43945;NG_030005;NM_001018058;NM_001244583;NM_012252;XM_006715909 AAH29891;AAS02009;AAS07449;BAA21908;BAG36322;BAH13493;CAE77680;CAI45926;EAL24366;EAW83490;EAW83491;EAW83492;NP_001018068;NP_001231512;NP_036384;O14948;XP_006715972 Hs.125962 1786346 SHGC-155947 TCFEC;TFE-C;TFEC-L;TFECL;bHLHe34;hTFEC-L OTTHUMP00000025136;OTTHUMP00000068193;OTTHUMP00000196474;OTTHUMP00000212947;class E basic helix-loop-helix protein 34;transcription factor EC-like APPROVED protein-coding ENSG00000105967 HGNC:11754 05294 604732 REVIEWED 1344671 TFF1 trefoil factor 1 Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer, and affect healing of the epithelium. This gene, which is expressed in the gastric mucosa, has also been studied because of its expression in human tumors. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 28931367 28935619 - 43782391 43786644 - 42362282 42366535 - 1580863;625375;2291996;2291999;2292003;2292004;2292010;2292005;2292012;2298572;2298570;2298573;2298569;2298571;2292002;6480464;6484113 10458410;10727981;10835496;11350545;11903739;15375487;16267614;16467092;17624412;18283638;7965392;8836141;9066601;9221798 10490106;10673290;10830953;10950923;10982763;12034770;12379766;12407144;12477932;12613926;14563942;14756547;15019994;15115253;15123808;15177868;15304487;15339660;15340161;15345777;15489334;15541729;15578191;15694343;15821928;15831516;15849833;15924415;15967118;15989967;16009131;16142311;16142316;16189514;16308573;16341674;16474375;16713569;16715141;16718800;16830362;16861234;16957778;1707960;17143957;17317669;17610997;17651883;17982272;18313384;18322525;18502057;18515572;18543253;18644870;18662686;18676680;18722547;18846421;18927283;19132993;19170196;19172291;19172695;19589871;19625176;19692168;19724895;19851296;20063012;20112343;20132413;20198315;20213275;20300195;20494980;20981699;21067798;21111741;21228366;21358676;21378170;21451135;21472131;21490402;21747314;2185238;21870107;21946330;21982860;22093877;22158540;22286382;22382029;22642590;22842654;22944057;2303034;2311759;23266572;23291975;23329884;23627615;23675462;23836323;23942618;24236136;24486742;24503794;24798994;3041593;3146413;3261981;3822834;3838275;6324130;8405856;8521850;9043862;9070946;9096235;9355742;9582279;9855711 7031 P04155 AB038162;ABBA01014173;AMYH02037871;AP001623;AP001746;BC032811;BQ083523;BU539534;CH471079;M12075;NM_003225;X00474;X05030;X52003 AAA52402;AAH32811;BAA95532;BAB13729;CAA25155;CAA28695;CAA36254;EAX09569;NP_003216;P04155 Hs.162807 1741759;1742129;1794714;2119324 GDB:185151;GDB:192309;PMC350567P1;SHGC-35308 BCEI;D21S21;HP1.A;HPS2;pNR-2;pS2 OTTHUMP00000109350;breast cancer estrogen-inducible protein;breast cancer estrogen-inducible sequence;gastrointestinal trefoil protein pS2;polypeptide P1.A;trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) APPROVED protein-coding ENSG00000160182 HGNC:11755 00219 113710 REVIEWED 731368 TFF2 trefoil factor 2 Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. The encoded protein inhibits gastric acid secretion. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 28915432 28920174 - 43766466 43771208 - 42346357 42351099 - 1580863;2291999;6480464;7364760;8554872 15280409;16467092 10189055;10716671;10830953;10950923;11786503;12054609;12477932;12613926;12717829;13679442;14759512;1505966;15101998;15115253;15177880;15177883;15256384;15489334;15578191;15984970;16142316;16166422;16341674;16359755;16718800;16786324;16830362;17118693;17207965;17332476;17982272;19064997;19172695;19204726;19344006;19541923;20063012;20801119;21228366;21461878;21472131;21982860;22159958;22286382;22329990;22997242;23000412;2303034;23628371;23933418;7566098;7961636;8405856;8836141;9043862;9050913;9070946;9272936;9781055;9855711 7032 Q03403 AA307808;AB038162;ABBA01014173;AMYH02037871;AP001623;BC032820;BM817851;BM853946;CH471079;NM_005423;U47292;X51698 AAB05397;AAH32820;ADQ32849;BAB13730;CAA35995;EAX09570;NP_005414;Q03403 Hs.2979 1660242;1773586;5113844 RH66536;RH80234;STS-U47292 SML1;SP OTTHUMP00000109347;spasmolysin;spasmolytic polypeptide;spasmolytic protein 1;trefoil factor 2 (spasmolytic protein 1) APPROVED protein-coding ENSG00000160181 HGNC:11756 01682 182590 REVIEWED 1320255 TFG TRK-fused gene There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] 3 3 3 q12.2 98819764 98859409 + 100428128 100467811 + 100709284 100748967 + 1580863;6480464;6907045;7240710;8554872;8699517 10556217;11591653;11943732;12237775;12477932;12761501;14702039;15188455;15557341;16055720;16169070;16189514;16341674;16344560;16547966;17110338;17683050;18624398;19135240;19380743;19542561;19797732;21139048;21145461;21890473;21906983;21988832;22145905;22250051;22581839;22792062;22863883;22883144;23000965;23479643;23553329;23810392;23862649;24250222;24337577;24613659;24999993;7565764;9169129 10342 C9JJP5;C9JTY3;C9JUE0;Q05BK6;Q92734 AB097040;AB097041;AB731569;AB731570;ABBA01061786;ABBA01061787;AC069223;AK093456;AK123588;AK127920;AMYH02007305;AMYH02007306;BC001483;BC009241;BC023599;BC041600;BE409447;BM746125;BQ008360;BT007428;CH471052;CR456781;DA704111;KF457659;KF457666;NG_027821;NM_001007565;NM_001195478;NM_001195479;NM_006070;XM_005247066;XM_006713472;XM_006713473;Y07968 AAH01483;AAH09241;AAH23599;AAH41600;AAP36096;ABM83120;ABM86315;BAC77393;BAC77394;BAG52721;BAM48926;BAM48927;CAA69264;CAG33062;EAW79813;EAW79814;EAW79815;EAW79816;EAW79817;NP_001007566;NP_001182407;NP_001182408;NP_006061;Q92734;XP_005247123;XP_006713535;XP_006713536 Hs.518123 1740245;2154103 D3S1683;NIB1880 FLJ36137;HMSNP;SPG57;TF6;TRKT3 OTTHUMP00000214045;OTTHUMP00000214046;OTTHUMP00000214047;OTTHUMP00000214048;TRK-fused gene protein;TRKT3 oncogene APPROVED protein-coding ENSG00000114354 HGNC:11758 03932 602498;604484;612237;615658 REVIEWED 1322916 TFIP11 tuftelin interacting protein 11 TFIP11 is a nuclear speckle-localized protein that may play a role in spliceosome disassembly in Cajal bodies (Stanek et al., 2008 [PubMed 18367544]).[supplied by OMIM, Apr 2009] 22 22 22 q12.1 10691755 10712292 - 26887893 26908462 - 26491927 26512471 - 1580863;6480464 10591208;10806191;11042152;11076863;11230166;11256614;11991638;12477932;12529303;15302935;15461802;15489334;15489336;15868102;16381901;17043677;17081983;18367544;18781068;19086053;19103666;19471022;19857462;20360068;20398908;20811636;21139048;21693764;21890473;21906983;21988832;22412018;22939629;23537643;23752268;23790503;24457600;24722188;24816145 24144 F6SQZ1;F6UKU9;F6UQ07;F6XM96;H0Y4U8;Q9UBB9 ABBA01055200;ABBA01055201;AF070662;AK025443;AK025739;AK298303;AK299964;AL050258;AL080147;AMYH02038167;BC011599;BC033080;BT007274;BX354919;CH471095;CT841511;KF457388;NM_001008697;NM_012143;Z95115;Z99714 AAD20968;AAH11599;AAH33080;AAP35938;ABM83177;ABM87848;BAG60557;BAG61790;CAB43360;CAB45740;CAI17878;CAJ86441;CAK54393;CAK54692;CAL37965;CAQ09360;EAW59722;EAW59723;EAW59724;NP_001008697;NP_036275;Q9UBB9 Hs.20225 1660916;1665785;1698092;2175031 A007C16;RH102578;RH66366;STS-N30363 FLJ22086;NTR1;STIP-1;Spp382;TIP39;bK445C9.6;hNtr1 OTTHUMP00000198650;OTTHUMP00000198850;OTTHUMP00000198851;OTTHUMP00000198852;septin and tuftelin-interacting protein 1;tuftelin-interacting protein 11 APPROVED protein-coding ENSG00000100109 HGNC:17165 11628 612747 VALIDATED 736458 TFF3 trefoil factor 3 (intestinal) Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. This gene is expressed in goblet cells of the intestines and colon. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 28880742 28884671 - 43731777 43735706 - 42311667 42315596 - 1580863;2291999;6480464;6484113;7349371;7364761;7349369;8554872 12612884;16467092;17847023;19287349 10051448;10830953;10950923;11193208;11235998;11837892;12006524;12395334;12477932;12613926;12663147;14637006;14690424;14968359;15083192;15340161;15489334;15515157;15578191;15645121;15665295;15733066;16110118;16142311;16142316;16166422;16278592;16410243;16830362;17008636;17018241;17216196;17217669;17762162;18258687;18326859;18353006;18502057;18506086;18676680;18682706;18979216;19170196;19172695;19238529;19528408;19625176;19692168;19758246;20063012;20112343;20132413;20229017;20237496;20499178;21125297;21170267;21170268;21472131;21520112;21743959;21769478;21829008;22246423;22286382;22341453;22354994;22389405;22476621;22516806;22572548;22907485;23198942;23329884;23570281;23578537;23691218;23822993;23845905;23856515;23933418;24045095;24051092;24125969;24164280;24228773;24358147;7669039;7718582;8346203;8454642;8641134;8833157;8940297;9043862;9070946;9855711 7033 H7BYT0;Q07654;X6R3S7 AB038162;ABBA01014173;AF432265;AMYH02037871;AP001623;AP001746;BC017859;BQ016069;CH471079;L08044;L15203;NM_003226;U25657 AAA36766;AAA59981;AAA83628;AAH17859;AAL28111;ABM82889;ABM86079;BAA95531;BAB13731;EAX09571;EAX09572;NP_003217;Q07654 Hs.82961 2119117;2159927 D21S1820;SHGC-51863 HITF;ITF;P1B;TFI;hP1.B OTTHUMP00000109348;OTTHUMP00000109349;polypeptide P1.B;trefoil factor 3 APPROVED protein-coding ENSG00000160180 HGNC:11757 02797 600633 REVIEWED 1344546 TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) This gene encodes a protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. The encoded protein is glycosylated and predominantly found in the vascular endothelium and plasma in both free forms and complexed with plasma lipoproteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been confirmed. [provided by RefSeq, Jul 2008] 2 2 2 q32 181925068 182015356 - 188328957 188419219 - 187464230 187554492 - 1578543;1578547;1580863;6480464;6484113;6907045;8554872 11425765;16270631 10348905;10391209;10856975;10859319;10922378;10996745;11057878;11166776;11380428;11460016;11686353;11693665;11697721;11772005;11776326;11776329;11816723;11848461;11864704;12028585;12038800;12117418;12193974;12195688;12270558;12408975;12428111;12477932;12482841;12540955;12787023;12818258;12871406;12893029;1353057;14610342;14656922;15307537;15339683;15340161;15351861;15467908;15489334;1558967;15604416;15817451;15845911;15886798;15892865;16113753;16246254;16247609;16261634;16335952;16344560;16380494;16431924;16488980;16516912;16765424;16879232;17003923;17082321;17180732;17196206;17207965;17469034;17702963;17704111;17762532;17890962;17931693;17951326;18029348;18045239;18067603;18180609;18217145;18310227;18327407;18419747;18600090;18677291;18690350;18695356;18977990;19007969;19012190;19016004;19017259;19065458;19132232;19169266;19238444;19244162;19277407;19322201;19350127;19401682;19411818;19467658;19581412;19630792;19631649;19689998;19859836;19913121;1993173;20002538;2002045;20034913;20062932;20088940;20128871;20140262;20431849;20442653;20444258;20453636;20492471;20519147;20523161;20628086;20978710;21029363;21132373;21293010;21344386;21378988;21474669;21555871;21664032;21832049;21849050;21868574;21895962;21979881;22144186;22178066;22363056;22449009;22461171;22627666;22632032;22658294;2271516;22749962;22836130;22900482;22918506;22932941;22939629;22985614;23038262;23071754;23074276;23327927;23348798;23374966;23407778;23524311;23530052;23583979;23841464;23979162;24094893;24127605;24233486;24233490;24275667;2452157;24620349;24740810;2553722;2781520;2927510;3024756;3422166;3492226;7498454;7598447;7706485;7841311;8104873;8327992;8639592;9199408;9242660;9252393;9867356 7035 C9J103;C9JBB3;C9JKV3;C9JP39;C9JQ14;C9JT76;P10646 AB035127;AB209866;ABBA01062350;ABBA01062351;AC007319;AC098485;AF021834;AK130306;AK313562;AMYH02005412;AU136083;AY263365;BC014332;BC015514;CA418214;CH471058;J03225;M58650;M59499;NG_029714;NM_001032281;NM_006287;S63486;XM_005246818;XM_005246819;XM_005246820;XM_006712720 AAA52022;AAA59480;AAA59526;AAD01700;AAH15514;AAO89075;AAY14807;ADQ31578;BAD93103;BAG36336;EAX10921;EAX10922;EAX10923;NP_001027452;NP_006278;P10646;XP_005246875;XP_005246876;XP_005246877;XP_006712783 Hs.516578 1673185;1675925;1692484;1716247;2113910;2114475;2118530;2148356;2170593;2175443;5021119 A007F18;AL033893;D2S2820;RH121151;RH44998;RH93109;SGC32902;SHGC-32709;SHGC-35690;TFPI;WI-17615 EPI;LACI;TFI;TFPI1 OTTHUMP00000163472;OTTHUMP00000205424;OTTHUMP00000205429;OTTHUMP00000205430;OTTHUMP00000205431;anti-convertin;extrinsic pathway inhibitor;lipoprotein-associated coagulation inhibitor;tissue factor pathway inhibitor APPROVED protein-coding ENSG00000003436 HGNC:11760 01064 152310 REVIEWED 1344553 TFP1 transferrin pseudogene 1 3 3 3 q22.1 131820530 131821838 + 133410566 133428518 + 133691722 133709674 + 19084217;22678362;3678832 100129696 ABBA01059164;AC083905;AMYH02007708;M22375;NG_008673 1338332;1763833 D3S3657;SHGC-147499 TFP APPROVED pseudo HGNC:11759 INFERRED 736798 TFPI2 tissue factor pathway inhibitor 2 This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 7 7 7 q22 88214047 88218363 - 93514709 93520303 - 93885397 93890991 - 724777;1580863;6480464 8945635 10026147;10496984;11342222;11834519;11840337;11945080;12477932;12606321;12632077;12690205;12738994;12757776;12787920;12853948;12876637;12881707;12921785;14525759;14558946;14623891;14678821;14702039;14970225;14983234;15183047;15221977;15231748;15467913;15489334;15592528;15685245;15932872;16247609;16303743;16344560;16580726;16641089;16965396;17023682;17138934;17208328;17352822;17372906;17464989;17558445;18053161;18097563;18401718;18480470;18810851;19081094;19102937;19103149;19212621;19288010;19435926;19460752;19571260;19763915;19902129;19936309;20015200;20018303;20113832;20335518;20347477;20377370;20530429;20537494;21036731;21062455;21224345;21515313;21530612;21621497;21820798;21983100;21984372;22052167;22110206;22203034;22208663;22232300;22399594;22449186;22866126;23032906;23108564;23300768;23383108;23497249;23805888;3276312;6884838;7896752;8159751;8555184;8661135;8914837;9445254;9548189 7980 H7C4A3;P48307 ABBA01045787;AC002076;AF217542;AK024817;AK075425;AK075427;AK092499;AK129833;AK313260;AMYH02016285;AY044097;AY691946;BC005330;BC034155;CH236949;CH471091;D29992;DA831865;DA833200;L27624;NG_032914;NM_001271003;NM_001271004;NM_006528 AAA20094;AAH05330;AAH34155;AAK13254;AAK72693;AAS02022;AAU04568;ABM83459;ABM86670;BAA06272;BAC03906;BAG36070;EAL24140;EAW76808;EAW76809;EAW76810;EAW76811;NP_001257932;NP_001257933;NP_006519;P48307 Hs.438231 1646799;1655245;1687564;1695032;1695054;1696874;1769100;1855879;2114380;2179260;2182907;2185569 D7S2733;D7S2782;D7S2904;G44730;G44757;G49182;RH36110;RH78297;RH91430;SHGC-34072;STS-D29992;TFPI2 FLJ21164;PP5;REF1;TFPI-2 OTTHUMP00000162595;OTTHUMP00000208602;placental protein 5;retinal pigment epithelium cell factor 1 APPROVED protein-coding ENSG00000105825 HGNC:11761 08962 600033 REVIEWED 733579 TFPT TCF3 (E2A) fusion partner (in childhood Leukemia) ENCODES a protein that exhibits DNA binding (ortholog); INVOLVED IN apoptotic signaling pathway; PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN Ino80 complex; nucleolus; nucleus; INTERACTS WITH methyl methanesulfonate; pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13 51650001 51659116 - 54610320 54619055 - 54107013 54115675 - 6480464;9495926 21502417 10086727;10644725;12477932;15489334;16189514;16229834;16230350;17041757;17081983;17207965;17395368;17643375;17721549;18922472;19471022;19615732;21303910;21832049;22723017;22939629;23251661;23684607 29844 A8MTQ3;F8WDC1;G5E9B5;P0C1Z6 ABBA01068175;AC012314;AC245052;AF052052;AK310627;AK310647;BC001728;BC004281;BC007776;BI820344;BQ027375;CH471135;NM_013342;XM_005258825;XM_005277074;XM_005277252;XM_005278261;XM_006725769;XM_006725870;XM_006725958;XM_006726057;XM_006726155;XM_006726195 AAD45182;AAH04281;AAH07776;ADQ31711;EAW72185;EAW72186;EAW72187;EAW72188;EAW72189;NP_037474;P0C1Z6;XP_005258882;XP_005277131;XP_005277309;XP_005278318;XP_006725832;XP_006725933;XP_006726021;XP_006726120;XP_006726218;XP_006726258 Hs.590939;Hs.745267 1805376;1810342;1812438;1819780;1831604;1838320;1838470;2041034;2041036;2041038;2041040;2041042;2041044;2041046;2041048;2041050;2041052;2041054;2041056;2041058;2041060;2041062;2041064;2041066;2041068;2041070;2041072;2041074;2041076;2041078;2041080;2041082;2041084;2041086;2041088;2041090;2041092;2041094;2041096;2041098;2041100;2041102;2041104;2041106;2041108;2041110;2041112;2041114;2041116;2041118;2103568;2103570;2103572;2103574;2103576;2103578;2103580;2103582;5024569 ECD03635;ECD06163;ECD07226;ECD10960;ECD16939;ECD20334;ECD20409;REN91551;REN91552;REN91553;REN91554;REN91555;REN91556;REN91557;REN91558;REN91559;REN91560;REN91561;REN91562;REN91563;REN91564;REN91565;REN91566;REN91567;REN91568;REN91569;REN91570;REN91571;REN91572;REN91573;REN91574;REN91575;REN91576;REN91577;REN91578;REN91579;REN91580;REN91581;REN91582;REN91583;REN91584;REN91585;REN91586;REN91587;REN91588;REN91589;REN91590;REN91591;REN91592;REN91593;RH93802;stSG605791;stSG605792;stSG605793;stSG605794;stSG605795;stSG605796;stSG605797;stSG605798 FB1;INO80F INO80 complex subunit F;OTTHUMP00000071104;OTTHUMP00000194971;OTTHUMP00000194972;TCF3 fusion partner;amida;amida, partner of the E2A protein-coding ENSG00000105619 HGNC:13630 10266 609519 VALIDATED 1320887 TFR2 transferrin receptor 2 This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] 7 7 7 q22 94947821 94968950 - 100218039 100240332 - 100620416 100642773 - 1599386;1580863;6480464;7240710;8554872;8699517 10802645 10409623;10638746;10748106;11027676;11313241;11358388;11675342;12130528;12134060;12139409;12150153;12393650;12406888;12477932;12531241;12656741;12667993;12681966;12704209;12921947;14702039;15015967;15084147;15317665;15319276;15319290;15486069;15521925;15749661;15785438;15836704;15863206;15894659;15987753;16054692;16085060;16493621;16634833;16706826;16893896;16932966;17042772;17182845;17202145;17255364;17298224;17847004;17956864;18083267;18245657;18353247;18450729;18565178;18762941;19019709;19250966;19254567;19292036;19460752;19729324;19759876;19787796;19819738;19820697;19828835;19859668;19862010;19913121;19924283;20096706;20220060;20301523;20587610;20628086;20634490;21208937;21518504;21849092;21890473;21906983;21963094;21988832;22268729;22323359;22728873;22890139;23222517;23556518;23817740;24055163;24901155;9465039;9799793 7036 E7ET36;H7C544;Q9UP52 ABBA01013195;ABBA01013196;AC099394;AF067864;AF085928;AK000421;AK022002;AMYH02016386;AMYH02016387;BC142630;BC150192;BI917390;BX384750;CH236956;CH471091;DQ496110;DR004213;NG_007989;NM_001206855;NM_003227;XM_005250553;XM_005250554;XM_006716103 AAD45561;AAI42631;AAI50193;ABF47099;BAA91153;BAB13951;EAW76506;EAW76507;EAW76508;EAW76509;EAW76510;NP_001193784;NP_003218;Q9UP52;XP_005250610;XP_005250611;XP_006716166 Hs.544932 1672273;2179636;2186824;2218822;5022217;5113343 D7S2897;GDB:1317244;RH45450;RH47495;RH80164;TFR2__5247 HFE3;MGC126368;TFRC2 OTTHUMP00000215913;transferrin receptor protein 2 APPROVED protein-coding ENSG00000106327 HGNC:11762 05282 604250;604720 REVIEWED 735819 TG thyroglobulin Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009] 8 8 8 q24 130055026 130324401 + 133879149 134147146 + 132866916 133134902 + 1600141;1580863;5147557;6480464;6907045;7240710;8548607;8548645;8548643;8548629;8548644;8548647;8548630;730133;8548606;8554872;8699517 11089535;14636875;14657345;1752952;17550957;18656705;21559421;21683551;22662162;3052944;95586 10049727;10199792;10448091;10487692;10524569;10636893;11124863;11294872;11581009;11916630;11935320;12022704;12387814;12477859;12477932;12679418;12709678;12804099;12819023;12973666;1371467;14557492;14633662;14718574;14764582;15070908;15272924;15494458;15562032;15579752;15579800;15769978;15785246;16230285;16260629;16271015;16344560;1639210;16403815;16421571;16477365;16646680;16679516;17244789;17278897;17526951;17532758;17644307;17671725;17854396;17902201;17911408;18166820;18243140;18271683;18385936;18514160;18566446;18631008;18636294;18755875;19034705;19194833;19240061;1939080;19404338;19416000;19438904;19438905;19509106;19633549;19730683;19776016;19837936;20089614;20173019;20182447;20215770;20353937;20379614;20486066;20573721;20864102;20960158;20972722;20972728;21039721;21372558;21476894;21636579;21646855;21757724;21958696;22098450;22136265;22136267;22170797;22259066;22265031;22517745;22561518;22784463;22832960;23164529;23190420;23242039;23345097;23360821;23455760;23489940;23612905;23826916;23886742;23900865;23933148;23949896;24064687;24599957;24735383;2760035;2914619;2991855;3016640;3211159;3595599;3681978;3967888;3971976;4006519;4043966;7593451;7793989;8094490;8269951;8530385;8615697;8797845;9006956;9186272;9287346;9492085 7038 E5RG33;E7EVM0;H0YB42;H0YBC5;H0YBJ2;H0YBL4;H0YBQ6;H0YBR7;H0YBY1;P01266 AB209159;ABBA01014200;ABBA01014201;ABBA01014202;ABBA01014203;ABBA01014204;AF080484;AF230666;AF230667;AF235100;AF237421;AF255396;AF305872;AK299197;AK303666;AK303667;AMYH02018809;AMYH02018810;AU141420;AU141607;AU141923;AU142151;BC127887;BC140933;CH471060;KF458851;KF458852;KF458854;KF458856;KF495732;KF495744;KF495748;KF511066;NG_015832;NM_003235;S40807;S80793;U93033;X02154;X02749;X05615;XM_005251038;XM_005251040;XM_005251042;XM_005251043;XM_006716622;XM_006716623 AAB22685;AAB50656;AAC51924;AAD50912;AAF64045;AAF71743;AAI27888;AAI40934;BAD92396;BAG64665;BAG64666;BAH12966;CAA26089;CAA26527;CAA29104;EAW92156;EAW92157;EAW92158;NP_003226;P01266;XP_005251095;XP_005251097;XP_005251099;XP_005251100;XP_006716685;XP_006716686 Hs.654591 1339719;1340645;1341222;1341759;1342341;1650843;1685405;1694532;1722115;1722525;1722943;1723061;1739113;1741577;1757497;1762413;1765521;1770516;1771424;1786516;1790261;1794442;2117835;2117837;2117839;2133485;2133487;2135396;2143551;2148358;2172622;2186046;5118057;5127514;7185587 A002K18;A005O27;AFM116YH8;D17S1775;D1S466;D8S1538;D8S1740;D8S284;D8S378;D8S529;G20379;G32172;G43055;G60100;G60189;G60569;GDB:181542;GDB:679375;HSC06D062;IB3077;KS615;PMC31324P1;RH11483;RH123517;RH35804;RH47284;RH71465;SHGC-101673;SHGC-144869;SHGC-146247;SHGC-149000;SHGC-32844;WI-3009;WI-3500 AITD3;TGN OTTHUMP00000227159 APPROVED protein-coding ENSG00000042832 HGNC:11764 01782 188450;274700;608175 REVIEWED 733275 TFRC transferrin receptor ENCODES a protein that exhibits double-stranded RNA binding; identical protein binding; poly(A) RNA binding; INVOLVED IN iron ion import; PARTICIPATES IN forkhead class A signaling pathway; hypoxia inducible factor pathway; endocytosis pathway; ASSOCIATED WITH Breast Neoplasms; Carcinoma, Renal Cell; Carcinoma, Transitional Cell; FOUND IN blood microparticle; cell surface; coated pit; INTERACTS WITH (S)-nicotine; 1,10-phenanthroline; 17alpha-ethynylestradiol 3 3 3 q29 194360605 194393477 - 195776155 195809032 - 196049284 196082161 - 1580863;2292016;2292018;2292028;2292024;2292027;2292036;2292017;2292021;2292026;2292022;2292023;2298574;2292020;2292025;1601529;6480464;6484113;6907045 11299801;11497259;12394762;14965443;15514585;16953838;17417667;18373698;18395385;2174150;3493065;8050820;9373912;9739406 10192390;10377239;10451539;10531064;10638746;11027676;11096344;11702220;11783942;11800564;11891802;11929045;11944994;11988743;11997026;12032198;12071581;12163483;12200453;12210842;12222675;12372835;12406888;12445428;12473103;12477932;12538733;12553165;12667138;12707725;12767055;12857860;12904899;1380674;1421756;1421757;14592831;14612438;14691533;14705946;14705953;14722085;14727087;14752097;14769051;14980223;15047825;15229288;15313461;15349772;15371488;15489334;15525538;15569681;15592455;15623846;15668490;15775751;15784911;15880641;15894659;15924420;15941956;15951569;15987753;16085060;16092918;16271988;16325581;16326028;16332734;16335952;16344560;16354665;16508012;16564538;16704960;16788758;16893896;17059402;17062801;17081065;17125792;17173037;17213182;17287727;17327328;17407154;17493600;17872946;17877204;17927572;17956864;17994011;18003730;18155160;18166587;18218624;18362144;18411250;18445768;18541582;18579154;18586377;18621559;18635001;18665828;18676680;18677382;18694648;1871153;18781797;19021568;19066835;19135902;19170196;19223469;19238537;19258483;19290554;19308738;19394251;19471022;19625176;19692168;19693784;19711434;19728552;19738201;19819738;19828835;19838776;19859668;19862010;19864458;19875448;19913121;19917294;19968988;20001236;20041272;20071291;20085643;20086096;20133674;20139978;20161783;20360068;20369475;20424473;20497464;20587610;20604729;20628086;20634958;20716799;20821024;20870579;20880565;20980512;21036394;21081666;21139048;21149283;21165552;21182205;21187331;21252943;21297444;21323588;21384276;21415701;21523522;21674799;21693764;21750710;21788477;21849092;21859709;21870996;21875946;21906983;21922073;21963094;21987572;22090097;22096579;22158540;22167341;22268729;22278244;2229063;22304920;22308388;22356162;22505724;22525445;22623428;22750506;22763969;22768652;22854040;2298808;23016877;23042282;23160040;23222517;2327986;23357852;23384347;23384534;23390091;23443559;23464991;23606747;23749212;23754414;23798571;23861967;23874603;2398066;24121126;24332808;24337577;24435655;24457600;24583282;24639526;24752778;24816145;24901155;25015289;2507316;2874839;3007223;3013873;3568132;3582362;6090955;6094009;6268632;6273413;6309000;7556058;7744867;7780197;7789520;7864799;7994765;8394993;8408022;8631371;8671324;9120267;9136890;9341758;9358047;9414644;9428630;9448136;9465039;9782058 7037 A8K6Q8;F8WBE5;G3V0E5;H7C3V5;P02786;Q7Z3E0 AB209254;ABBA01033706;ABBA01033707;ABBA01033708;AC024937;AC245464;AF187320;AK291723;AK294758;AK309923;BC001188;BX537966;CH471191;CK724857;DA460386;DQ496099;DT219054;M11507;NM_001128148;NM_003234;X01060 AAA61153;AAF04564;AAH01188;ABF47088;ABM83785;ABM87107;BAD92491;BAF84412;BAH11872;CAA25527;CAD97930;EAW53670;EAW53671;EAW53672;EAW53673;NP_001121620;NP_003225;P02786 Hs.529618 1644841;1649883;1668230;1735210;1741465;1788702;1853103;1856129;2108959;2151013;2152598;2174008 D3S2868E;D3S4193;D3S4248;G22035;GDB:181229;RH135817;SHGC-58250;SHGC-77671;SHGC-77673;SHGC-77676;STS-H53118;TFRC_3331.2 CD71;T9;TFR;TFR1;TR;TRFR;p90 OTTHUMP00000208523;OTTHUMP00000208524;OTTHUMP00000208525;transferrin receptor (p90, CD71);transferrin receptor protein 1 APPROVED protein-coding ENSG00000072274 HGNC:11763 01812 190010 VALIDATED 1352636 TGCT1 testicular germ cell tumor susceptibility 1 ASSOCIATED WITH Testicular Germ Cell Tumor 1 (inferred) 7240710 10655070 50830 1338302 DXS8043 HGNC:13466 300228 1315219 TGDS TDP-glucose 4,6-dehydratase ENCODES a protein that exhibits coenzyme binding (inferred); dTDP-glucose 4,6-dehydratase activity (inferred); INVOLVED IN nucleotide-sugar metabolic process (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; benzo[a]pyrene diol epoxide I 13 13 13 q32.1 76074266 76096482 - 95226308 95248511 - 94574054 94596257 - 1580863;6480464 12477932;15057823;15489334;17474147;18976975;19027726;21906983;21963094;22939629;23503679;24250222 23483 O95455 ABBA01027209;ABBA01027210;AF048686;AJ006068;AK303439;AK313251;AL139318;AL359708;AMYH02028502;AMYH02028503;AY544125;BC005284;BC033675;CH471085;NM_014305 AAD50061;AAH05284;AAH33675;AAT11156;ADZ15877;BAG36061;BAH13961;CAA06840;EAX08940;EAX08941;NP_055120;O95455 Hs.12393 1697630 RH102327 SDR2E1;TDPGD OTTHUMP00000043625;dTDP-D-glucose 4,6-dehydratase;growth-inhibiting protein 21;short chain dehydrogenase/reductase family 2E, member 1 protein-coding ENSG00000088451 HGNC:20324 15494 VALIDATED 6481102 TGFA-IT1 TGFA intronic transcript 1 (non-protein coding) 2 p13.3 70467385 70481640 - 23251661 100874273 ABBA01075539;AC017084;AL705569;AMYH02004039;DB457677;HG494189;NR_046798 Hs.682157 AC017084.6 ncrna HGNC:41389 VALIDATED 736273 TGFA transforming growth factor, alpha This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 2 2 2 p13 70525095 70631786 - 70674412 70781147 - 70447280 70554015 - 1578553;1578554;1578555;1578628;1578629;1578630;1580863;1578721;2317471;2317476;2317483;2317473;2317470;2317486;2317490;2317468;2317472;2317963;5490965;6480464;6484113;6907045;8554872 10207942;10441618;11576338;12370739;1401070;15090366;15887112;15982853;16734725;17785207;17968906;18956197;19248822;19506583;8712689;9060843;9542514;9700116 10066034;10230395;10375383;10523832;10552925;10861448;10918572;11101516;11152476;11278323;11727256;11739402;11823465;11859273;11952158;12120215;12138086;12223352;12297049;12468378;12477932;12558814;12590602;12606307;12607604;12619035;12652527;12657625;12709435;12743035;12771184;12820957;12896876;12907656;12960509;14616544;15040026;15064403;15064961;15123239;15146197;15222785;15245434;15304500;15449618;15643916;15652357;1577411;15864136;15879109;15943034;15965977;16107719;1612477;16311697;1632509;16344560;1639032;16495466;1658709;16691197;16792897;16820093;16953426;17272867;17313741;17334078;17525275;17553928;17562274;17592292;17629209;17698969;1791840;17922051;17962208;17993868;18054376;18073139;18080773;18156207;18253818;18325497;18507100;18544636;18698632;18757723;18788876;18793775;18811692;18922903;18930083;18956930;18978678;18996102;19052740;19196314;19244201;19246968;19307027;19322201;19442892;19444471;19535569;19692652;19708171;19749156;19780938;19823173;19846666;19913121;19937600;20036421;20047592;20082468;20092031;20123220;20201926;20379614;20453000;2050136;20522558;20544801;20628086;20634891;20672350;20834067;20860222;20871631;20877637;20936340;2103501;21167153;21240064;21300824;21382168;21404459;21440944;21496113;21507922;22513431;22581387;22582975;2261437;22700631;22732125;22748914;22892881;22914212;23029012;23155381;23251661;23579063;23608755;23684931;23697265;23729230;23940636;23995782;24027752;24048703;24122793;24133589;24237184;24243742;24457057;24554542;2464748;24685520;2907605;3459638;3855503;6088071;7579819;7727772;7947554;8025160;8100397;8123596;8212535;8224876;8338831;8358733;8910478;9285829;9637529;9813060 7039 E7EPT6;F8VNR3;F8WA74;H0Y6S5;P01135 ABBA01075538;ABBA01075539;AC005234;AC017084;AF075584;AF075586;AF123239;AF149096;AF149097;AF149098;AF149100;AK290151;AK309066;AK309220;AK312899;AMYH02004039;AMYH02004040;AY325886;AY548763;BC005308;BI760767;BM453873;BT006833;CD369689;CH471053;CN274505;DA216480;DA229819;DA373586;DA462271;K03221;K03222;M22440;M31172;M96868;NG_029975;NM_001099691;NM_003236;X70340;XM_005264522 AAA52530;AAA61157;AAA61158;AAA61159;AAA79958;AAD12238;AAD12239;AAF05089;AAF05090;AAF05091;AAF06728;AAF06729;AAF06730;AAF13491;AAH05308;AAP35479;AAP97822;AAS83396;AAY14705;AAY14793;BAF82840;CAA49806;EAW99810;EAW99811;EAW99812;EAW99813;EAW99814;NP_001093161;NP_003227;P01135;XP_005264579 Hs.170009;Hs.628298 1298163;1667255;1741507;1741895;1742781;1742783;1743631;1753387;1753419;1784256;1794436;1795148;1796926;2175724;2182052;5092388;5120201;7183782 D2S2800;D2S292;GDB:120435;GDB:181258;GDB:186558;GDB:206703;GDB:206704;GDB:206705;GDB:363429;PMC312794P1;PMC99897P1;RH70888;SHGC-107207;SHGC-107216;SHGC-12714;SHGC-172026;TGFA_427 TFGA OTTHUMP00000160075;OTTHUMP00000203300;OTTHUMP00000203301;OTTHUMP00000203345;OTTHUMP00000203352;OTTHUMP00000225517;TGF-alpha;protransforming growth factor alpha;transforming growth factor-alpha APPROVED protein-coding ENSG00000163235 HGNC:11765 07522 190170 REVIEWED 732522 TGFB1I1 transforming growth factor beta 1 induced transcript 1 This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 16 16 16 p11.2 28819110 28824915 - 31483476 31489281 + 31472155 31477960 + 6480464 10075738;10092676;10330411;10604475;10848625;11155740;11313252;11463817;11546764;11779876;11792840;11805099;11856738;11937715;11937718;12023963;12153727;12177201;12202987;12376363;12400158;12417722;12421567;12426580;12445807;12477932;12631731;12858356;14702039;14755691;15231748;15561701;15572661;15687259;16141357;16344560;16624805;16713569;16849583;1716619;17166536;17353931;17508020;17671518;17919607;18029348;18401422;18762808;19389829;19855388;19953087;20395114;20448481;20818421;20946164;21139048;21148292;21900206;21924870;21984848;21988832;21996749;22286178;22712231;23007394;23062781;23145173;24831009;7929412;9032249;9422762;9756887;9858471 7041 H3BN49;H3BQC4;H3BRP2;H3BS04;H3BSN4;I3L209;O43294 AA992124;AB007836;ABBA01042096;AC026471;AF116343;AK122975;AK313327;AMYH02031852;BC001507;BC001830;BC017288;BC032545;CH471192;DA097743;DQ309025;NM_001042454;NM_001164719;NM_015927 AAD22552;AAH01507;AAH01830;AAH17288;AAH32545;ABB96286;BAA24799;BAG36132;EAW52126;EAW52127;EAW52128;EAW52129;EAW52130;NP_001035919;NP_001158191;NP_057011;O43294 Hs.513530 1701090;2109943 RH104172;TGFB1I1_8674 ARA55;HIC-5;HIC5;TSC-5 OTTHUMP00000163301;OTTHUMP00000197012;androgen receptor coactivator 55 kDa protein;androgen receptor coactivator ARA55;androgen receptor-associated protein of 55 kDa;hydrogen peroxide-inducible clone 5 protein;transforming growth factor beta-1-induced transcript 1 protein APPROVED protein-coding ENSG00000140682 HGNC:11767 03831 602353 REVIEWED 730953 TGFB2 transforming growth factor, beta 2 This gene encodes a member of the transforming growth factor beta (TGFB) family of cytokines, which are multifunctional peptides that regulate proliferation, differentiation, adhesion, migration, and other functions in many cell types by transducing their signal through combinations of transmembrane type I and type II receptors (TGFBR1 and TGFBR2) and their downstream effectors, the SMAD proteins. Disruption of the TGFB/SMAD pathway has been implicated in a variety of human cancers. The encoded protein is secreted and has suppressive effects of interleukin-2 dependent T-cell growth. Translocation t(1;7)(q41;p21) between this gene and HDAC9 is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. The knockout mice lacking this gene show perinatal mortality and a wide range of developmental, including cardiac, defects. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010] 1 1 1 q41 191735848 191834418 + 218518676 218617961 + 218345334 218444619 + 731229;1579858;1579866;1579868;1579870;1579872;1579879;1579937;2302090;2298921;2302086;2292158;2302087;2302024;2302088;2302103;2302105;2302107;6480464;6484113;6907045;8699517;7240710;8554872 11002343;11934857;12060054;12545247;12876066;14575314;14612425;14997937;15109563;15145083;15630473;16227582;17117936;17204936;17366323;17574405;18205704;18406405 10092230;10433821;10457363;10861501;10930463;11157754;11241554;11278302;11483955;11488419;11528528;11716069;11795478;11796824;11895345;11991670;12011061;12015308;12021923;12060393;12062452;12064833;12411310;12420205;12477932;12489185;12607775;12706107;12772773;12802400;12867422;12911534;12958365;1333888;14507446;14510802;14679171;14702039;15009106;15113633;15247411;15290353;15389580;15489334;15695166;15816823;15857508;15896309;15944186;15955085;16210002;16260601;1631557;1641027;16463680;16467496;16608413;16778279;16885354;16891397;16943770;16998703;17192487;17201588;17217916;17401695;17431704;17453002;17532297;17611697;1764261;17651146;17679942;17703412;17827158;17960115;17999987;18039789;18040277;18043895;18049952;18078367;18080134;18174230;18223299;18239623;18292822;18348727;18358889;18384390;18431253;18457978;18498721;18505915;18563556;18694919;19031438;19062040;19161338;19212830;19249525;19258923;19438810;19444386;19453261;19472023;19572226;19651985;19710942;19834535;19913121;19937272;19959123;19965872;20059631;20134268;20142847;20201926;20237496;20301312;20485444;20503287;20543478;20585394;20587546;20628086;20628624;20630504;20634891;20734064;20875417;20881960;21034224;21087804;21087928;21088899;21106846;21139048;21161068;2119582;21207416;21212630;21305699;21360509;21411746;21446058;21585337;21642622;21693611;21738403;21917933;21946350;22180604;22464821;22487836;22504005;22582395;22653295;22706080;22736943;22739237;22772368;22772371;22786655;22823397;22955109;23099432;23102774;23249391;23257207;23297089;23306609;23322721;23387555;23651239;23668958;23687438;23690072;23712828;24045946;24223867;24311892;24314882;24755068;25003733;2850146;3162414;3226728;3322813;3457014;3476488;7513640;7852346;8093006;8106553;9493905;9611771;9675033 7042 P61812;Q59EG9 AB209842;ABBA01048104;ABBA01048105;AC096638;AK295671;AK296504;AK299839;AK313106;AMYH02002716;AY438979;BC096235;BC096236;BC099635;BC099636;BX098793;CH471100;M19154;M87843;NG_027721;NM_001135599;NM_003238;XR_247036;XR_247037;Y00083 AAA50404;AAA50405;AAA61162;AAH96235;AAH99635;AAR05442;BAD93079;BAG35929;BAG58529;BAG59137;BAG61703;CAA68279;EAW93326;EAW93327;NP_001129071;NP_003229;P61812 Hs.133379 1653409;1744249;1781858;1796928;2120838;2124717;2131871;2150044;2153469;2154087;2164515;2184120;5022588;5024413 D19S1060;D1S3314;D5S1597E;G15948;G29668;GDB:438937;L17877;RH47450;RH69605;SHGC-76361;SHGC-76368;SHGC-84426;STS-Y00083;TGFB2_1091 G-TSF;LDS4;MGC116892;TGF-beta-2;TGF-beta2 BSC-1 cell growth inhibitor;OTTHUMP00000037528;OTTHUMP00000037529;cetermin;glioblastoma-derived T-cell suppressor factor;polyergin;prepro-transforming growth factor beta-2;transforming growth factor beta-2 APPROVED protein-coding ENSG00000092969 HGNC:11768 01828 190220;614816 REVIEWED 9586109 TGFB2-AS1 TGFB2 antisense RNA 1 (head to head) 1 1 1 q41 191734015 191736209 - 218517538 218519020 - 218344196 218345678 - 728463 ABBA01048105;AC096638;AMYH02002716;BX099841;HG493217;NG_027721;NR_046268 Hs.568469 ncrna ENSG00000232480 HGNC:50628 VALIDATED 8695002 TGFB2-OT1 TGFB2 overlapping transcript 1 q41 14702039;24879147 103611157 AC096638;AK021874;NR_125715 Hs.133379 ncrna HGNC:50629 VALIDATED 735686 TGFB3 transforming growth factor, beta 3 This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and is involved in embryogenesis and cell differentiation. Defects in this gene are a cause of familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Mar 2009] 14 14 14 q24 56462579 56486236 - 76424440 76449334 - 75958097 75982991 - 625677;1579859;1579864;1579865;1579866;1579879;1579937;1625704;1580863;2298922;2302086;2292158;6480464;6484113;6907045;7240710;8554872;8699517 11002343;12060054;12239085;12651933;12733956;12809600;14605008;14612425;15924806;18205704;18406405 10187774;10457363;10930463;11157754;11158066;11166150;11199370;11341298;11374028;11382746;11384957;11488419;11754469;11776328;11821050;11850637;11969342;12021923;12062452;12168782;12171249;12221089;12358597;12410804;12432546;12477932;12489185;12508121;12607775;12652527;12729750;12772773;12911534;1326540;1333888;14659070;14679171;14702039;15017149;15155569;15247411;15639475;15896309;16043141;16210002;16247549;16549496;16778279;16781676;16930538;17225872;17272867;17401695;17671384;17673689;17827158;18039789;18049952;18078367;18080134;18156205;18174230;18243111;18293167;18480962;18498721;18505915;18698632;1875922;18799618;18950289;18976975;19062040;19107876;19161338;19212830;19231643;19322201;19328471;19336475;19396528;19432813;19453261;19628198;19651533;19656717;19700613;19787410;19897194;19937272;20082468;20083094;20142847;20170386;20237132;20237496;20301310;20407224;20408761;20485444;20497023;20572854;20587546;20613589;20628624;20634891;20672350;20734064;20736064;20945347;21041550;21084396;21177256;21305699;21352603;21411746;21423151;21611961;21666950;21823016;21988832;22143699;22191848;22266274;22369552;22409215;22464821;22674391;22706080;22795539;22796605;22880017;23023602;23122986;23824657;23968981;24053560;24056369;24306208;24438909;24825427;3164476;3208746;3226728;3457014;7493022;7796607;7852346;7951245;7962292;8093006;8106553;8819159;8886879;9140123;9250163;9683588;9872992 7043 A5YM40;B3KVH9;P10600 AA778162;ABBA01030690;AF107885;AK122902;AK313564;AMYH02029543;AY140241;AY208161;AY386326;AY386327;AY386328;BC018503;BT007287;BX417403;CH471061;CN417712;DA196236;EF560714;J03241;M58524;NG_011715;NM_003239;X14149;X14885;XM_005268028 AAA59193;AAA61161;AAC79727;AAH18503;AAM96819;AAO13495;AAP35951;AAQ98616;AAQ98617;AAQ98618;ABQ59024;BAG36338;BAG53791;CAA32362;CAA33024;EAW81249;NP_003230;P10600;XP_005268085 Hs.592317;Hs.713281 1340387;1647624;1679255;2118631;2142733;2162042;2181488 D14S42;GDB:386107;RH70130;RH79157;SHGC-11931;SHGC-30624;hstgf37 ARVD;ARVD1;FLJ16571;RNHF;TGF-beta3 OTTHUMP00000246179;OTTHUMP00000246180;TGF-beta-3;prepro-transforming growth factor beta-3;transforming growth factor beta-3 APPROVED protein-coding HGNC:11769 01829 107970;190230;615582 REVIEWED 1351420 TGFBI transforming growth factor, beta-induced, 68kDa This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008] 5 5 5 q31 131489316 131524237 + 135364584 135399507 + 136028895 136063818 + 1599387;1599389;1304421;1580863;6480464;7240710;8554872;8699517 12911551;16308546;9054935 10328397;10425035;10660331;10681572;10837380;10865320;10913330;10967553;11024425;11297504;11413411;11501939;11685063;11741113;11866539;11867580;11923233;11927442;12034705;12270930;12379307;12386809;12400061;12454095;12477932;12499048;12586172;12673209;12704192;12719415;12782158;12940514;1388724;14597039;14701952;14702039;14767644;14767905;15013897;15059726;15111592;15177960;15179309;15223229;15302666;15372022;15489334;15531312;15564760;15623763;15712349;15780949;15790870;15805105;15838722;15885785;16087849;16329070;16329146;16344560;16368891;16434404;16440005;16453189;16541014;16636649;16652336;16670477;16672769;16767671;16797290;16900028;16947382;17013691;17317389;17327467;17378698;17653042;17765440;17846354;17893671;17909299;17980739;17982418;17982422;18068629;18078741;18097563;18245446;18249103;18259096;18290950;18298822;18332318;18354229;18359287;18425347;18427622;18465714;18470323;18560760;18568131;18615206;18636123;18728790;18752451;19001012;19019446;19145249;19199708;19255489;19303004;19433713;19461933;19478074;19505574;19822856;19913121;19948560;19956413;20161820;20360992;20419098;20421128;20458218;20628086;20664689;20680100;20697279;20724852;20806046;20863486;20931522;21135107;21191728;21371477;21395558;21554857;21561707;21617751;21720722;21835759;21899585;21921985;22056868;22155582;22159598;22194646;22234156;22248469;22326753;22374302;22575305;22575726;22626996;22629380;22710795;22746317;22815629;22850414;22876129;22995918;23019342;23559853;23592924;23735324;23861389;24129074;24152593;24368280;24425855;24473223;24483146;24499734;24506343;24662304;7738366;8024701;8077289;8125298;8136834;9061001;9463327;9497262;9727509;9780098;9799082 7045 D6RBX4;H0Y8L3;H0Y8M8;H0Y9D7;H0YAB8;H0YAH8;Q15582;S4R3C6 AB209598;ABBA01068719;AC004503;AC005219;AF035626;AF035627;AF035628;AF035629;AK093916;AK094055;AK094581;AK222833;AK298603;AK303643;AMYH02012261;AY149344;BC000097;BC004972;BC026352;BT009820;CH471062;DA051240;M77349;NG_012646;NM_000358 AAA61163;AAB88695;AAB88696;AAB88697;AAB88698;AAC08449;AAC24944;AAH00097;AAH04972;AAN10294;AAP88822;ABM83104;ABW03491;BAD92835;BAD96553;BAG52785;BAG52805;BAG52893;BAG60787;BAH14005;EAW62198;EAW62199;EAW62200;NP_000349;Q15582 Hs.369397 1649196;1657969;1681352;1684188;1712276;1722487;1780590 G54047;G60167;RH36452;RH67865;RH76242;RH79676;bac5130T BIGH3;CDB1;CDG2;CDGG1;CSD;CSD1;CSD2;CSD3;EBMD;LCD1 OTTHUMP00000223339;RGD-CAP;RGD-containing collagen-associated protein;beta ig-h3;kerato-epithelin;transforming growth factor, beta-induced, 68kD;transforming growth factor-beta-induced protein ig-h3 APPROVED protein-coding ENSG00000120708 HGNC:11771 03409 121820;121900;122200;601692;602082;607541;608470;608471 REVIEWED 733386 TGFBR1 transforming growth factor, beta receptor 1 The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 9 9 9 q22 72381280 72430335 + 101867412 101916474 + 99105130 99154192 + 1579873;1579874;1579875;1579876;1579878;1579879;737663;1579872;1579927;1579929;1579931;1579937;1580863;2302036;2299005;2302019;2306282;2298922;2302517;2302024;1601595;2302027;2302021;2302020;6480464;6484113;6907045;7240710;737735;8554872;8699517 11936776;12060054;12545247;12808151;12809600;14612425;14704634;14722617;15102771;15382067;15723089;15731757;16009107;16314481;16428477;17366323;17505012;17613544;18198643;18202349;18313409;18684975;8272871;9363992 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7046 B4DY26;F8VRH6;F8VVC4;F8VXZ5;F8W0K6;F8W1R9;H0YHS4;P36897;Q5T7S2 ABBA01042903;ABBA01042904;AF035670;AF054598;AJ420419;AJ619019;AJ619020;AK002171;AK129793;AK302059;AK302234;AL117597;AL162427;AMYH02021328;AMYH02021329;AY497473;BC038347;BC056247;BC071181;BX648917;CH471105;DQ383416;DQ383417;DQ383418;DQ383419;DQ383420;DQ383421;DQ383422;DQ383423;DQ383424;GU143401;HB448229;L11695;NG_007461;NM_001130916;NM_004612;XM_005252150 AAA16073;AAC08998;AAD02042;AAH71181;AAR32097;ABD46753;ACZ58375;BAG63449;BAG63588;CAF02096;CAF02097;CAZ91468;EAW58905;EAW58906;NP_001124388;NP_004603;P36897;XP_005252207 Hs.494622 1651234;1658762;1669432;1695700;1723081;1764225;1796930;2116862;2126707;2127226;2129220;2137365;2140382;2186832;5117100;7185272 D9S2089;GDB:437164;RH121979;RH35823;RH45113;RH45434;RH45880;RH69005;SHGC-12551;SHGC-147856;SHGC-34660;SHGC-57485;SHGC-78743;TGFBR1_1095;UniSTS:496000 AAT5;ACVRLK4;ALK-5;ALK5;ESS1;LDS1;LDS1A;LDS2A;MSSE;SKR4;TGFR-1 OTTHUMP00000021783;OTTHUMP00000242324;OTTHUMP00000242325;OTTHUMP00000242326;OTTHUMP00000242329;TGF-beta receptor type I;TGF-beta receptor type-1;TGF-beta type I receptor;activin A receptor type II-like kinase, 53kD;activin A receptor type II-like kinase, 53kDa;activin A receptor type II-like protein kinase of 53kD;activin receptor-like kinase 5;multiple self-healing squamous epithelioma;serine/threonine-protein kinase receptor R4;tbetaR-I;transforming growth factor beta receptor I;transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD);transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa);transforming growth factor-beta receptor type I APPROVED protein-coding ENSG00000106799 HGNC:11772 01822 132800;190181;609192 REVIEWED 69095 TGFB1 transforming growth factor, beta 1 This gene encodes a member of the transforming growth factor beta (TGFB) family of cytokines, which are multifunctional peptides that regulate proliferation, differentiation, adhesion, migration, and other functions in many cell types. Many cells have TGFB receptors, and the protein positively and negatively regulates many other growth factors. The secreted protein is cleaved into a latency-associated peptide (LAP) and a mature TGFB1 peptide, and is found in either a latent form composed of a TGFB1 homodimer, a LAP homodimer, and a latent TGFB1-binding protein, or in an active form composed of a TGFB1 homodimer. The mature peptide may also form heterodimers with other TGFB family members. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease.[provided by RefSeq, Oct 2009] 19 19 19 q13.1 38636964 38659992 - 41836812 41859831 - 41330531 41353933 - 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7040 M0R2S0;P01137 ABBA01040804;ABBA01040805;AC011462;AI304490;AK291907;AK307742;AMYH02036132;AMYH02036133;AY059373;AY330201;AY330202;AY576687;AY576688;AY820829;AY871232;AY871233;AY871234;AY871235;AY871236;AY871237;AY871238;AY871239;AY871240;AY871241;AY871242;AY871243;AY871244;AY871245;BC000125;BC001180;BC022242;BG115704;BP267938;BT007245;CH471126;CQ759646;CS674262;CS805735;DA935180;HC919732;HC919943;JA104601;M38449;NG_013364;NM_000660;X02812;X05839 AAA36735;AAH00125;AAH01180;AAH22242;AAL27646;AAP35909;AAQ18641;AAQ18642;AAT77143;AAT77144;AAV71148;AAX59016;AAX59017;AAX59018;AAX59019;AAX59020;AAX59021;AAX59022;AAX59023;AAX59024;AAX59025;AAX59026;AAX59027;AAX59028;AAX59029;ACE86795;ACE87482;BAF84596;CAA26580;CAA29283;CAF32686;CAP12291;CAP40172;CBN73463;CBN73468;CCA63970;EAW57032;EAW57033;NP_000651;P01137 Hs.645227 1851935;5016023;5016586;5113521;5117847 GDB:624780;GDB:624783;RH76684;STS-X02812;TGFB1 CED;DPD1;LAP;TGFB;TGFbeta TGF-beta 1 protein;TGF-beta-1;latency-associated peptide;prepro-transforming growth factor beta-1;transforming growth factor beta-1 APPROVED protein-coding ENSG00000105329 HGNC:11766 01821 131300;190180;219700 REVIEWED 736539 TGFBR3 transforming growth factor, beta receptor III This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010] 1 1 1 p33-p32 90391974 90597757 - 92145900 92371559 - 91680343 91906002 - 1579872;1579931;1579943;1579933;1579954;1580863;2298922;6480464;6484113;8554872 12545247;12651901;12809600;12970754;14704634;15745937 10092230;10207840;10746731;10944857;11157754;11323414;11382746;11546783;12358857;12385827;12477932;12568406;12782414;12873459;12958365;1319842;1333192;14557487;14585090;14976204;15009106;15489334;16344560;16502470;1657406;1657407;16613887;16621788;16710414;16886151;16982625;17084394;17192875;17272393;17408468;17602227;17999987;18029348;18097622;18174230;18184661;18299279;18315732;18397882;18398939;18845534;18931647;18978678;19056867;19131638;19164448;19249006;19299629;19322201;19416857;19453261;19639191;19842711;19913121;20153821;20178540;20208565;20379614;20386084;20406198;20424473;20548946;20587546;20628086;20634891;20677641;20734064;21186301;21261473;21297076;21307088;21411633;21717526;21756058;21829018;21847367;22036907;22140272;22290546;22300218;22440163;22479366;22562249;22927969;23092981;23209189;23226100;23322721;23387308;23835618;24216509;24347165;24658685;24705316;7852346;7935686;8106553;8125298;8530052 7049 E9PAW7;E9PKY4;E9PMG7;Q03167 ABBA01045559;ABBA01045560;ABBA01045561;ABBA01045562;ABBA01045563;ABBA01045564;AC099334;AC114486;AI090023;AJ251961;AK225799;AK291345;AL162263;AL390780;AL445992;AMYH02001465;AMYH02001466;AMYH02001467;AMYH02001468;AMYH02001469;AY796304;BC099914;BC126116;BC136295;BC143869;BX090279;CA406273;CH471097;DA724452;DA854401;DA862176;DB224305;DR002506;L07594;NG_027757;NM_001195683;NM_001195684;NM_003243;NR_036634;XM_006710867;XM_006710868 AAA67061;AAI26117;AAI36296;AAV50003;BAF84034;CAB64374;EAW73112;EAW73113;NP_001182612;NP_001182613;NP_003234;Q03167;XP_006710930;XP_006710931 Hs.482390;Hs.735919 1336125;1648883;1661581;1664966;1721655;1764493;2122447;2128307;2149838;2150684;2170078;2218090 AL009304;D1S1588;D1S3441;D1S3573;G59838;RH68993;SHGC-148101;SHGC-30223;SHGC-58228;SHGC-75157;SHGC-75166;TGFBR3_3871 BGCAN;TGFR-3;betaglycan OTTHUMP00000011787;OTTHUMP00000011807;OTTHUMP00000228692;TGF-beta receptor type 3;TGF-beta receptor type III;betaglycan proteoglycan;transforming growth factor beta receptor type 3;transforming growth factor, beta receptor 3 APPROVED protein-coding ENSG00000069702 HGNC:11774 02846 600742 REVIEWED 6770737 TGFBR3L transforming growth factor, beta receptor III-like FOUND IN integral component of membrane (inferred) 19 19 p13.2 7981032 7983980 + 7916147 7919097 + 15885500 100507588 H3BV60 ABBA01010876;AC010336;AI536712;AI692730;AMYH02035411;BG752983;DR033794;NM_001195259;XM_006722603;XM_006722604 H3BV60;NP_001182188;XP_006722666;XP_006722667 Hs.646773 TGFR-3L TGF-beta receptor type III-like protein;TGF-beta receptor type-3-like protein;transforming growth factor-beta receptor type 3-like protein;transforming growth factor-beta receptor type III-like protein protein-coding ENSG00000260001 HGNC:44152 PROVISIONAL 1321869 TGFBRAP1 transforming growth factor, beta receptor associated protein 1 ENCODES a protein that exhibits SMAD binding; transforming growth factor beta receptor binding; INVOLVED IN regulation of transcription, DNA-templated; signal transduction; PARTICIPATES IN transforming growth factor-beta Smad dependent signaling pathway; FOUND IN membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 q12.1 100084016 100146596 - 105865861 105946148 - 105249404 105329714 - 1580863;6480464;6484113 10051563;11278302;12477932;14702039;16344560;16886895;19754311;20379614;20562859;21139048;21906983;21998450;23251661;23551011;24816145;9545258 9392 Q8WUH2 ABBA01073861;ABBA01073862;AC012360;AF022795;AK021697;AK291382;AMYH02004469;AMYH02004470;AMYH02004471;BC011136;BC019841;BC020548;CH471127;CT002669;DB150781;FB750000;HG494419;NM_001142621;NM_004257;XM_006712860;XM_006712861 AAC16903;AAH11136;AAH20548;AAY15010;ABM82485;ABW03418;BAF84071;BAG51041;CAT02179;EAX01764;EAX01765;NP_001136093;NP_004248;Q8WUH2;XP_006712923;XP_006712924 Hs.446350;Hs.592796 2108567;2140923 L29730;TGFBRAP1_7945 RP11-332H14.1;TRAP-1;TRAP1 OTTHUMP00000161378;TGF beta receptor associated protein -1;TGF-beta receptor-associated protein 1;transforming growth factor-beta receptor-associated protein 1 protein-coding ENSG00000135966 HGNC:16836 06948 606237 VALIDATED 734332 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] 3 3 3 p22 30584920 30672564 + 30647994 30735634 + 30606502 30694142 + 1579875;1579879;1579925;1299231;1579872;1579927;1579928;1579929;1579930;1579931;1579934;1579936;1579937;1579939;1579940;1579941;1579933;1580863;1601591;1579923;1601598;1601599;1601623;1601116;1601593;1579926;1601601;1601627;1601600;1580959;2299005;2301065;2306282;2298922;2302517;2308865;2317498;2317499;2317501;2317502;2317500;5490966;5490965;6480464;6484113;6907045;7240710;7394815;737735;8554872;8699517 10547197;10789724;11703592;11866987;11936776;11947899;12060054;12174910;12545247;12632524;12808151;12809600;12957270;12970754;14585397;14612425;14704634;14718046;14760070;14988818;15102771;15235604;15613744;15731757;16027248;16360132;16627068;16733295;16980036;17077588;17114585;17392319;17613544;18313409;18662538;18684975;18772397;19506583;7761852;8840968;9008650;9010265;9365135;9850059 10092230;10207840;10508522;10716993;10757800;11100470;11102446;11157754;11158177;11163210;11212236;11251969;11278251;11278302;11279102;11323414;11382746;11387212;11483955;11741970;11744689;11777969;11781097;11820800;11850637;12000714;12015308;12017275;12077447;12121646;12145287;12202987;12215842;12421567;12429842;12477932;12479849;12515396;12607775;12729750;12736050;12821554;12825850;12840808;12873459;12915548;12939140;1310899;1319842;1326540;1333888;14582709;14601051;14727154;14976186;15009106;15017149;15146427;1525823;15305380;15340161;15350299;15356634;15522964;15611116;15647279;15702480;15735734;15761153;15811425;15824172;15856015;15861007;15942678;15976377;16108056;16283890;16380996;16388503;16428382;16528739;16530041;16549496;16573164;16673206;16824508;16835936;16849474;16885183;16928994;16982625;17081983;17086361;17087113;17107667;17112860;17117417;17146441;17187359;17194537;17270239;17319955;17330129;17339425;17365852;17418587;17427197;17456004;17470566;17471240;17560608;17562261;17566598;17634290;17637743;17652900;17653092;17676485;17676583;17680270;17692120;17845732;17875924;17878231;17903302;17950544;17985359;18043895;18053089;18084123;18095113;18097622;18174230;18199825;18202754;18243111;18264665;18334936;18339844;18382895;18398939;18448069;18453574;18514338;18546940;18550062;18591668;18598696;18648910;18683732;18721526;18724388;18781618;18829577;18922473;18941508;19006214;19020727;19088080;19147499;19161338;19193655;19229971;19293232;19299629;19335617;19336370;19339270;19351817;19356148;19366699;19424605;19426152;19434696;19453261;19503063;19533785;19538865;19542084;19548309;19556242;19578796;19601999;19624886;19626999;19639654;19672284;19737884;19758997;19883511;19886734;19888426;19913121;19914962;19916025;19937272;19959123;19996017;20067791;20073064;20079749;20101206;20101701;20139972;20144264;20157331;20165854;20197483;20237496;20301299;20301312;20358619;20374083;20379614;20410122;20428796;20457266;20518838;20565851;20587546;20599261;20621662;20628007;20628086;20634891;20662850;20675371;20701609;20734064;20805453;20840324;20864512;20878063;21098638;21131601;21170488;21172820;21186301;21249319;21270064;21295082;21324918;21352603;21358634;21423151;21454688;21609163;21666718;21701930;21725601;21737283;21757750;21785915;21789464;21791611;21815248;21832049;21855067;21924348;21949851;21978186;21988832;22028617;22072622;22093616;22095581;22259224;22278155;22290546;22310065;22314103;22391627;22399565;22425785;22431140;22539603;22571197;22585622;22617150;22651914;22672900;22683712;22684895;22734312;22739178;22848678;22912877;22964853;22972928;23099432;23157888;23178117;23220853;23228659;23248962;23290524;23312833;23395552;23454766;23535729;23548068;23690952;23726841;23734265;23741361;23750746;23788249;23793025;23883197;23899993;23913824;23951322;23970096;23973329;24034922;24037531;24093773;24151081;24284203;24447338;24597762;7566156;7632217;7852346;7890683;7935686;7959019;8020936;8106553;8242742;8317497;8388126;8555189;8576253;8622651;8774881;8812462;8947046;8973329;9045666;9155023;9169454;9335507;9435577;9590282;9856985;9865696;9872992;9926943;9927040 7048 A3QNQ0;D2JYI1;P37173 ABBA01024961;AC096921;AI279872;AJ786388;AK300383;AK304404;AK314102;AL554950;AMYH02006477;AY675319;BC040499;BI598781;BM457423;CA437785;CB988859;CD521609;CH471055;D28131;DB493906;DQ377553;DQ377554;DQ377555;DQ377556;DQ377557;DQ377558;DQ377559;GU143402;GU143403;HI179058;HI179060;KC792576;KC792577;KC792578;KC792579;KC792580;M85079;NG_007490;NM_001024847;NM_003242;U52246;U69152;XM_006713316 AAA61164;AAB17553;AAB40916;AAI52841;AAT70724;ABG65632;ACZ58376;ACZ58377;AHI94910;AHI94911;AHI94912;AHI94913;AHI94914;BAA05673;BAG36796;BAG62117;BAG65238;CAH10151;CBX53837;CBX53838;EAW64410;EAW64411;EAW64412;NP_001020018;NP_003233;P37173;XP_006713379 Hs.604277;Hs.82028 1331559;1337259;1338284;1341296;1847799;2110777;2146531;2179750;2179752;5092824 A006H18;D3S1283;D3S1293;D3S2336;D3S3727;G32353;G35010;RH47188;SHGC-32684;TGFBR2_1097 AAT3;FAA3;LDS1B;LDS2;LDS2B;MFS2;RIIC;TAAD2;TGFR-2;TGFbeta-RII OTTHUMP00000161128;OTTHUMP00000208552;TGF-beta receptor type II;TGF-beta receptor type IIB;TGF-beta receptor type-2;TGF-beta type II receptor;tbetaR-II;transforming growth factor beta receptor type IIC;transforming growth factor, beta receptor II (70/80kDa) isoform 1;transforming growth factor, beta receptor II (70/80kDa) isoform 2;transforming growth factor, beta receptor II alpha;transforming growth factor, beta receptor II beta;transforming growth factor, beta receptor II delta;transforming growth factor, beta receptor II epsilon;transforming growth factor, beta receptor II gamma;transforming growth factor, beta receptor ii;transforming growth factor-beta receptor type II APPROVED protein-coding ENSG00000163513 HGNC:11773 01823 133239;190182;610168;614331 REVIEWED 1353233 TGFBRE transforming growth factor, beta-1 response element 11216674;8327510 8167 HGNC:11775 1603585 TGIF1P1 TGFB-induced factor homeobox 1 pseudogene 1 19 19 19 q13.32 43444525 43445890 - 46639545 46640854 - 46136288 46137597 - 126052 ABBA01040963;AC007785;AMYH02036215;NG_002440 1684168;1687592 RH39275;RH76383 pseudo HGNC:30730 INFERRED 1321463 TGIF1 TGFB-induced factor homeobox 1 The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013] 18 18 18 p11.3 3291675 3337991 + 3411925 3458409 + 3411927 3458411 + 1599407;1599409;1580863;1641826;6480464;8554872;8699517 10835638;14718385;15153551 10199400;10764806;10995736;11226163;11306568;11371641;11416139;11427533;11571228;11682623;11748221;11810641;12477932;12522553;12593671;12601022;15146197;15221788;15223781;15489334;16134180;16169070;16189514;16323008;16341674;16712791;16916642;16962354;17048038;17158784;17353931;17378698;17440433;17825514;18172074;18441095;18455519;18511908;19060265;19322201;19524896;19699159;20064471;20301702;20361981;20531442;20622901;20634891;21237437;21490324;21577013;21832049;21900206;21940735;22125506;22293114;22310223;22496059;22728270;22771156;22995913;23019344;23476075;23761267;24024966;24119525;24250222;3192211;7485158;8537382 7050 F8VUY0;F8VVS9;F8VW34;F8VWK5;F8VX54;F8VXG3;F8VYL4;F8VZH2;F8W1J9;J3KS32;Q15583 ABBA01049851;AF179900;AI813434;AK026766;AK291112;AK307230;AK309471;AMYH02034226;AP001025;AU310737;BC000814;BC031268;BE296707;BE906361;BF244060;BF446044;BM849453;BQ437864;BU657748;BX952985;CB161219;CB996365;CH471113;CN290028;CR450333;D82120;DR007147;HI179138;HI179140;HI179142;HI179144;HI179146;HI179148;HI179150;HI179152;HY041619;KF456343;NG_007447;NM_001278682;NM_001278684;NM_001278686;NM_003244;NM_170695;NM_173207;NM_173208;NM_173209;NM_173210;NM_173211;NM_174886;X89750;XM_005258135 AAF81643;AAH00814;AAH31268;ABM82489;ABM85677;BAF83801;CAA61897;CAG29329;CBX53877;CBX53878;CBX53879;CBX53880;CBX53881;CBX53882;CBX53883;CBX53884;EAX01670;EAX01671;EAX01672;NP_001265611;NP_001265613;NP_001265615;NP_003235;NP_733796;NP_775299;NP_775300;NP_775301;NP_775302;NP_775303;NP_777480;Q15583;XP_005258192 Hs.373550 1335914;1684168;1687592;1758927;2182327;7186257 D18S63;RH39275;RH76383;SHGC-151029;STS-X89750 HPE4;MGC39747;MGC5066;TGIF 5'-TG-3' interacting factor;5'-TG-3'-interacting factor 1;OTTHUMP00000162245;OTTHUMP00000162246;OTTHUMP00000162247;OTTHUMP00000241892;OTTHUMP00000241893;OTTHUMP00000241896;OTTHUMP00000241897;OTTHUMP00000241898;OTTHUMP00000241900;OTTHUMP00000241901;OTTHUMP00000241903;OTTHUMP00000241904;TALE homeobox TG-interacting factor;homeobox protein TGIF;homeobox protein TGIF1;tgfb-induced factor (tale family homeobox);transforming growth factor-beta-induced factor APPROVED protein-coding ENSG00000177426 HGNC:11776 04023 602630 REVIEWED 7205237 TGIF2-C20orf24 TGIF2-C20orf24 readthrough This locus represents naturally occurring read-through transcription between the neighboring TGIF2 (TGFB-induced factor homeobox 2) and C20orf24 (chromosome 20 open reading frame 24) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] 20 20 q 35202957 35240960 + 36574554 36612557 + 6480464;8554872 20967262 100527943 Q9GZN2 ABBA01006579;ABBA01006580;ABBA01006581;ABBA01006582;AL050318;AMYH02037026;NM_001199535 NP_001186464 Hs.584985 1662759;1671904;2151711 D20S1010;HUM000AA21;WI-19258 protein-coding ENSG00000259399 HGNC:44664 VALIDATED 1344249 TGIF2 TGFB-induced factor homeobox 2 The protein encoded by this gene is a DNA-binding homeobox protein and a transcriptional repressor, which appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and over-expressed in some ovarian cancers. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. Read-through transcription also exists between this gene and the neighboring downstream C20orf24 (chromosome 20 open reading frame 24) gene. [provided by RefSeq, Dec 2010] 20 20 20 q11.23 31909069 31929392 + 35201876 35222355 + 36573473 36593952 + 1580863;6480464;8554872 11006116;11427533;11780052;12417041;12477932;14702039;15342556;15489334;15880741;16344560;16436215;16534781;16962354;18094028;18768788;18959792;19086843;19322201;20040491;20211142;8619474;9110174 60436 H0YKN5;Q9GZN2;U3KQ25;U3KQB5;U3KQS0 AB042646;ABBA01006576;ABBA01006577;ABBA01006578;ABBA01006579;ABBA01006580;ABBA01006581;ABBA01006582;AF055012;AK074802;AK074829;AK313919;AL050318;AL705108;AMYH02037025;AMYH02037026;BC006549;BC012816;BG723865;BI869422;BP353213;BQ881960;CH471077;CQ783690;DA438831;NM_001199513;NM_001199514;NM_001199515;NM_021809 AAH06549;AAH12816;ABM84326;ABM87719;BAB16424;BAC11216;BAG36640;CAF86813;EAW76127;EAW76128;NP_001186442;NP_001186443;NP_001186444;NP_068581;Q9GZN2 Hs.632264 1651519;1662384;1663370;1674717;1677402;1798270;1847984;2176974 A008R12;D20S561E;G07338;G18067;RH77695;RH91464;TGIF2_2062;Z94335 5'-TG-3' interacting factor 2;5'-TG-3'-interacting factor 2;OTTHUMP00000030848;OTTHUMP00000030849;TGF(beta)-induced transcription factor 2;TGF-beta-induced transcription factor 2;TGFB-induced factor 2 (TALE family homeobox);homeobox protein TGIF2;transcription growth factor-beta-induced factor 2 APPROVED protein-coding ENSG00000118707 HGNC:15764 06293 607294 REVIEWED 1351295 TGIF2LX TGFB-induced factor homeobox 2-like, X-linked This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq, Jul 2008] X X X q21.31 89654407 89655349 + 89176940 89177882 + 89921941 89922883 + 1580863;6480464;8554872 12226713;12477932;12815422;15489334;15772651;18384077;18663611;22808956 90316 Q3ZCM9;Q8IUE1 AF497480;AJ427749;AL590041;AMYH02039940;BC029920;BC101144;BC101145;BC117398;BC117400;NM_138960 AAI01145;AAI01146;AAI17399;AAI17401;AAM18073;ADR82869;CAD20750;NP_620410;Q8IUE1 Hs.592220 1791179;5493449 UniSTS:486389;sY1254 MGC34726;TGIFLX OTTHUMP00000023636;TGF(beta)-induced transcription factor 2-like;TGF-beta-induced transcription factor 2-like protein;TGFB-induced factor 2-like protein, X-linked;TGFB-induced factor 2-like, X-linked;TGIF-like on the X;homeobox protein TGIF2LX APPROVED protein-coding ENSG00000153779 HGNC:18570 02328 300411 REVIEWED 1605001 TGIF2P1 TGFB-induced factor homeobox 2 pseudogene 1 1 1 1 q44 217848323 217860509 - 244558277 244570468 - 244394975 244407166 - 126826 ABBA01047198;ABBA01047199;AL645465;AMYH02003082;NG_009692 1849333;5017869 ADSS;SHGC-76611 pseudo HGNC:33317 INFERRED 1342872 TGIF2LY TGFB-induced factor homeobox 2-like, Y-linked This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. [provided by RefSeq, Jul 2008] X Y Y p11.2 89654392 89655348 + 3447126 3448082 + 3579085 3580041 + 1580863;6480464 12226713;12477932;12815422;18384077;18663611;20211142;20618440 90655 Q8IUE0 ABBA01069791;AC019058;AF332223;AJ427750;AK292609;BC101143;BC101146;BC128604;NM_139214 AAI28605;AAK13475;BAF85298;CAD20751;NP_631960;Q8IUE0 Hs.112148 1791179;5493449 UniSTS:486389;sY1254 OTTHUMP00000034365;TGF-beta-induced transcription factor 2-like protein;TGFB-induced factor 2-like protein, Y-linked;TGFB-induced factor 2-like, Y-linked;TGIF-like on the Y;TGIFLY;homeobox protein TGIF2LY APPROVED protein-coding ENSG00000176679 HGNC:18569 18512 400025 REVIEWED 731987 TGM1 transglutaminase 1 The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008] 14 14 14 q11.2 4582959 4597032 - 24718159 24733115 - 24249114 24263210 - 1599417;1580863;6480464;7240710;8554872;8699517 7824952 10066784;10196183;10405818;10510474;10914678;11251583;11298529;11390390;11511296;12054678;12100179;12397374;12477932;12542526;12654631;12721789;12928434;1346394;1348508;1350092;1351505;1381356;14645372;15304086;15313180;15489334;15665393;15715085;15805105;15846304;16133457;16344560;16530159;16604191;1670769;1673840;17024410;1704039;17672918;17762854;18397883;18673368;18676680;18948357;19170196;19197536;19199708;19241467;19343046;19386600;19464759;19486042;19516268;19556108;19625176;19646949;19651786;19692168;1979171;19863506;19890349;20080707;20167857;20301593;20360068;20663883;21139048;21248772;21789544;22009441;22080209;22220473;22311480;22435431;22511925;22622417;22801880;22972431;23096117;23189155;23192619;23278109;23290633;23621129;23689228;23895935;24314425;24457600;7592852;7688299;7773290;7906657;7961731;8824274;9326318;9346937;9359043;9384573;9446578;9516464;9523691;9722562;9863908;9887377 7051 B4DWR7;H0YKI6;H0YLJ6;H0YLT9;H0YMQ8;H0YN27;H0YNM4;P22735 ABBA01061339;ABBA01061340;AK291350;AK299436;AK301652;AK315819;AK315828;AK315843;AL096870;AMYH02028880;BC034699;CH471078;D10353;D90287;DA437895;DQ640500;JF419518;M55183;M62925;M83230;M98447;NG_007150;NM_000359;X57974 AAA59474;AAA61156;AAA61166;AAA96667;AAH34699;ABF70204;ABM82411;ABW03400;AEM23727;BAA14329;BAA34203;BAF84039;BAF98710;BAF98719;BAF98734;BAG61413;BAG63129;CAA41040;EAW66047;NP_000350;P22735 Hs.508950 1647748;1742067;2126208;2190625 D14S1225;GDB:190625;TGM1;humtgasi ARCI1;ICR2;KTG;LI;LI1;TG(K);TGK K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase;OTTHUMP00000164684;TGASE;TGase K;TGase-1;epidermal TGase;protein-glutamine gamma-glutamyltransferase K;transglutaminase 1 isoform;transglutaminase K;transglutaminase, keratinocyte;transglutaminase-1 APPROVED protein-coding ENSG00000092295 HGNC:11777 01824 190195;242100;242300 REVIEWED 732487 TGM2 transglutaminase 2 Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q12 33465637 33502475 - 36756863 36794910 - 38128461 38165298 - 1579955;1579992;1579993;1579994;1579987;634393;1579996;1579997;1579998;1580015;1580017;1302539;1580863;1300048;6480464;6484113;6907045 11013236;11351042;12054611;12205028;12387450;12698366;12702643;15001552;15471861;15585642;16341586;16477388 10100610;10518533;10521459;10556977;10561600;10611475;10684262;10922377;10958788;10963790;11258932;11350930;11390390;11442349;11686302;11742196;11762979;11780052;11829448;11867708;11867764;12061780;12093810;12368090;12410804;12438565;12477932;12527383;12528814;12743114;12853457;12960346;1353685;1358880;14631123;14747475;14752105;14985437;15069073;15199098;15201665;15220331;15231748;15272014;15362860;15460447;15489334;15556610;15592455;15691824;15715085;15746535;15752564;15886239;16146723;16146727;16146777;16153302;16212417;16285941;16300411;16301118;16313886;16338459;16368540;16368554;16382148;16407273;16439457;16449978;16522628;1670766;1670773;16720350;16757564;16826431;16914140;16951195;17043648;17171363;17189522;17228174;17314516;17374730;17403029;17440814;17442486;17476115;17609251;17625111;17671187;17711877;17762854;17890909;17924658;17939176;18052077;18092889;18174247;18235007;18312620;18353867;18375543;18381937;18474442;18490773;18499669;18505736;18544639;18561261;18584285;18587533;18632639;18667446;18673368;18793760;18804908;18809380;18849643;18923241;19013523;19056867;19182256;19183553;19278990;19324884;19342211;19403524;19542224;19562471;19619546;19625650;19628791;19632032;19655169;19657147;19680746;19738201;19756726;19838207;19840940;19878304;19912255;19931242;19937343;20007697;20033322;20052409;20080707;20156196;20371597;20437185;20450916;20450932;20488756;20489165;20547769;20596752;20615646;20659425;20665636;20676023;20711182;20717931;20731657;20731658;20739659;20874003;20926141;20929862;20967228;21036168;21036738;21124911;21129482;21139048;21226238;21252943;21304968;21359202;21441900;21525012;21625219;21678409;21757696;21777419;21818567;21830119;21832049;21840417;21900206;21908620;21935707;21943122;21963846;21967801;21971542;21984378;21988832;22038180;22080209;22083892;22086212;22089883;22118674;22130737;22139411;22160262;22198767;22220471;22220472;22220474;22220475;22220476;22220477;22220479;22225906;22228808;22231926;22268729;22298777;22320917;22322858;22326684;22364871;22366952;22382775;22385244;22418443;22442151;22451718;22458929;22460364;22493284;22652528;22698685;22750506;22782215;22863883;22921425;22923476;23076164;23085038;23085087;23122413;23185316;23200849;23224146;23276939;23290789;23454274;23538006;23576428;23640056;23730209;23765377;23804301;23817628;23853482;23877317;23941696;23966323;24052076;24058567;24085483;24130874;24175906;24191290;24193434;24291354;24325651;24349085;24375405;24375797;24477458;24569994;24610445;24654937;7688299;7730416;7906657;7912692;8611626;9060478;9252372;9315663;9442029;9512491;9973324 7052 A2A299;A2A2A0;B4DIT7;P21980;V9HWG3 AA493184;ABBA01006639;AF311286;AK058031;AK126508;AK291714;AK295775;AK300292;AK314618;AL031651;AL512703;AMYH02037058;AY675221;BC003551;BC073946;BQ430537;BQ938957;BX471706;CA444769;CH471077;DQ523828;EU794665;JC444048;M55153;M98478;M98479;NM_004613;NM_198951;S81734 AAA36739;AAA63261;AAB36379;AAH03551;AAH73946;AAK15272;AAT79353;ABF47109;ACJ13719;ADZ16041;BAF84403;BAG37184;BAG58599;BAG62049;CAC21649;CDM63683;EAW76040;EAW76041;EAW76042;EAW76043;EAW76044;NP_004604;NP_945189;P21980 Hs.517033 1646678;1658239;1798272;2181393;2181999;2185688 D20S1009;D20S543E;RH45330;SHGC-12855;TGM2_2385;WI-20127 G-ALPHA-h;GNAH;HEL-S-45;TG(C);TG2;TGC;TGase C;TGase H;TGase-2;TGase-H C polypeptide;C polypeptide, protein-glutamine-gamma-glutamyltransferase;OTTHUMP00000030960;epididymis secretory protein Li 45;protein-glutamine gamma-glutamyltransferase 2;protein-glutamine-gamma-glutamyltransferase;tissue transglutaminase;tissue-type transglutaminase;transglutaminase C;transglutaminase H;transglutaminase-2 APPROVED protein-coding HGNC:11778 01825 190196 REVIEWED 1343492 TGM3 transglutaminase 3 Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008] 20 20 20 q11.2 2341537 2386652 + 2276613 2321725 + 2295967 2341079 + 1580863;6480464;8554872 10521460;10777582;11780052;11901200;12477932;12679341;12850301;12874078;14645372;14646218;14647409;15084592;15193648;15304086;15335352;15489334;15715085;16257432;16786148;16804985;17205060;17380116;18029348;18719606;19005484;19142970;19199708;19522851;19590514;19615732;20300788;20379614;20562859;20716179;21139048;21335491;21800051;22506423;22586326;22990118;23189155;24244333;24289313;24403052;24550385;24643;24657165;5038456;7688299;7851911;7906657;7913719;8099584;8626812;8889549;9452468 7053 Q08188 ABBA01053789;AI216028;AK290324;AK291351;AK298637;AK299447;AK308249;AK315236;AL031678;AL602787;AL691671;AMYH02036578;AMYH02036579;AW265475;BC109075;BC109076;BG675531;BX284087;CH471133;DC373633;EF102483;L10386;N23065;NM_003245;XM_006723615 AAA61155;AAI09076;AAI09077;ABK41960;BAF83013;BAF84040;BAG37663;BAG60812;BAG61420;EAX10601;EAX10602;NP_003236;Q08188;XP_006723678 Hs.2022 1713183;1796932;1848563;1854211;1854597;2120857;2136815 D20S1049;D20S1099;D20S745;G18074;RH120378;TGM3_1647;Z94548 MGC126249;MGC126250;TG(E);TGE;TGase E;TGase-3 E polypeptide, protein-glutamine-gamma-glutamyltransferase;OTTHUMP00000030008;protein-glutamine gamma-glutamyltransferase E;transglutaminase E;transglutaminase-3 APPROVED protein-coding ENSG00000125780 HGNC:11779 02584 600238 REVIEWED 1343082 TGM4 transglutaminase 4 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN mating plug formation (inferred); peptide cross-linking (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; extracellular matrix; extracellular vesicular exosome; INTERACTS WITH 8'-apo-beta,psi-caroten-8'-al; aflatoxin B1; beta-carotene 3 3 3 p22-p21.33 44854064 44894051 + 44916098 44956093 + 44874606 44914601 + 1580863;6480464;8554872 12477932;15174051;15489334;16344560;17552366;18561295;18983858;19056867;20177144;20596668;21524313;21743959;22362749;23974364;7665178;7688299;7906657;7916568;8645175;9721214 7047 F8WCU8;P49221 ABBA01024735;AC098649;AK125536;AK130286;AK300523;AK312936;AMYH02006651;AMYH02006652;BC007003;BF678064;CH471055;DA870110;EU685240;EU685241;EU685242;L34840;NM_003241;U31905;U79008;XM_005265419;Y09559 AAB38324;AAB95430;AAC50516;AAH07003;ABM87504;ABW03895;ACF75748;ACF75749;ACF75750;BAC85321;BAG35778;BAG62235;CAA70753;EAW64727;EAW64728;NP_003232;P49221;XP_005265476 Hs.438265 1649897;5037552 D8S2279;WI-7947 FLJ26776;TG(P);TGP;hTGP OTTHUMP00000164127;TGase P;TGase-4;fibrinoligase;prostate transglutaminase;prostate-specific transglutaminase;protein-glutamine gamma-glutamyltransferase 4;transglutaminase 4 (prostate);transglutaminase P;transglutaminase-4 APPROVED protein-coding ENSG00000163810 HGNC:11780 08997 600585 VALIDATED 1349690 TGM6 transglutaminase 6 The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 20 20 20 p13 2426476 2478323 + 2361554 2413399 + 2380908 2432753 + 1580863;6480464;8699517;8554872;7240710 11390390;18825674;20300788;20301317;21106500;21453693;21939789;21984379;22527681;22554020;23206699;23535033;23576621;23800413;24275721;7688299;7906657 343641 O95932 ABBA01053790;AF540969;AF540970;AL031678;AL049650;AMYH02036581;CH471133;NG_031917;NM_001254734;NM_198994 AAI66680;AAQ10751;AAQ10752;EAX10600;NP_001241663;NP_945345;O95932 Hs.452039 1691606;2135175 AL032537;D20S826 SCA35;TG6;TGM3L;TGY;dJ734P14.3 OTTHUMP00000030010;OTTHUMP00000042917;TGase Y;TGase-3-like;TGase-6;protein-glutamine gamma-glutamyltransferase 6;spinocerebellar ataxia 35;transglutaminase 3-like;transglutaminase y;transglutaminase-3-like;transglutaminase-6 APPROVED protein-coding ENSG00000166948 HGNC:16255 15495 613900;613908 REVIEWED 1318367 TGM5 transglutaminase 5 This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009] 15 15 15 q15.2 20295623 20329891 - 43524793 43559055 - 43232595 43266857 - 6480464;7240710;8554872;8699517 11390390;12230511;12434312;12477932;15290346;15290349;15489334;16117804;16380904;18509357;19440220;19654303;20164844;21139048;22036214;22622422;23189155;7688299;7906657;8889548;9452468 9333 B4DPS8;O43548 ABBA01038351;AC009852;AC068724;AF035960;AF035961;AF206502;AF206503;AF206504;AF206505;AF206506;AF206507;AF206508;AF206509;AF206510;AK298479;AMYH02030301;AW467571;BC039086;BC119009;BC122859;CA314704;CH471125;NG_016124;NM_004245;NM_201631 AAC02978;AAC02979;AAF23981;AAI19010;AAI22860;BAG60690;EAW92593;EAW92594;EAW92595;EAW92596;NP_004236;NP_963925;O43548 Hs.129719 1678863;1733508;2111242 D15S492;D15S546;RH17542 MGC141907;TG(X);TGASE5;TGM6;TGMX;TGX;TGase X;TGase-5 TGASEX;protein-glutamine gamma-glutamyltransferase 5;transglutaminase V;transglutaminase X;transglutaminase-5 APPROVED protein-coding ENSG00000104055 HGNC:11781 11949 603805;609796 REVIEWED 1316891 TGM7 transglutaminase 7 Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002] 15 15 15 q15.2 20339319 20365298 - 43568479 43594453 - 43276281 43302255 - 1580863;6480464;8554872 11390390;23876241;7688299;7906657 116179 Q96PF1 ABBA01038350;ABBA01038351;AC009852;AF363393;AMYH02030302;AMYH02030303;BX112796;CH471125;NM_052955 AAI48503;AAI53106;AAK97573;EAW92597;NP_443187;Q96PF1 Hs.164661 1686128;1732221 D15S508;RH80195 TG(Z);TGMZ;TGZ;TGase Z;TGase-7 protein-glutamine gamma-glutamyltransferase Z;transglutaminase Z;transglutaminase-7 APPROVED protein-coding ENSG00000159495 HGNC:30790 09485 606776 VALIDATED 1353046 TGOLN1 trans-golgi network protein 1 369008 AK008520 HGNC:22987 1351226 TGOLN2 trans-golgi network protein 2 This gene encodes a type I integral membrane protein that is localized to the trans-Golgi network, a major sorting station for secretory and membrane proteins. The encoded protein cycles between early endosomes and the trans-Golgi network, and may play a role in exocytic vesicle formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 2 2 2 p11.2 85373190 85383374 - 85545141 85555419 - 85318018 85328296 - 1580863;6480464 10514494;10814565;11208159;12107412;12477932;14743217;15254094;15342556;15916959;16368877;17474147;18029348;18166528;20086247;20138391;20386718;20468057;20926557;21139048;21563830;21607084;21900423;21994457;24221250;7569928;8125298;8907712;9422759;9794796 10618 F8W8W7;J3KQ45;O43493 AA723637;AA814306;ABBA01075746;AC093162;AF027515;AF027516;AF029316;AK025557;AK126465;AK222829;AK223063;AK312479;AL133437;AL710137;AMYH02004178;AW630597;BC008461;BC028219;BC035237;BC046196;BC062782;BF515968;BP212295;BQ018277;BQ223385;BQ226188;BU192601;BX640733;BX640818;BX640868;BY798185;CB216875;CD370267;CD518854;CD671318;CH471053;NG_030379;NM_001206840;NM_001206841;NM_001206844;NM_006464;U62390;X94333 AAB96906;AAB96907;AAB96908;AAC39539;AAC39541;AAC39542;AAH08461;AAH28219;AAY24095;ABW03576;ABW03892;BAC86559;BAD96549;BAD96783;BAG35383;CAA64002;CAE45926;EAW99535;EAW99536;EAW99537;EAW99538;EAW99539;EAW99540;NP_001193769;NP_001193770;NP_001193773;NP_006455;O43493 Hs.593382 1644883;1685942;1849581;1849583;2115839;2129644;5037552;5109281 A001Y46;D1S1425;D8S2279;G19802;RH12119;RH93357;SHGC-32579;STS-X94333 MGC14722;TGN38;TGN46;TGN48;TGN51;TTGN2 OTTHUMP00000202896;OTTHUMP00000202897;OTTHUMP00000202899;OTTHUMP00000202906;OTTHUMP00000202907;TGN38 homolog;trans-Golgi network integral membrane protein 2;trans-Golgi network protein (46, 48, 51kD isoforms);trans-Golgi network protein TGN51 APPROVED protein-coding ENSG00000152291 HGNC:15450 04343 603062 REVIEWED 1320573 TGS1 trimethylguanosine synthase 1 ENCODES a protein that exhibits RNA trimethylguanosine synthase activity; INVOLVED IN 7-methylguanosine cap hypermethylation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; extracellular space; nucleus; INTERACTS WITH aflatoxin B1; benzo[a]pyrene diol epoxide I; ethyl methanesulfonate 8 8 8 q11 52677058 52729766 + 56685791 56738007 + 55773232 55825448 + 6480464;8554872 11517327;11912212;11983179;12032086;12097419;12189208;12200376;12477932;12754253;12776181;12943661;14702039;15130578;15489334;15574333;16341674;16344560;16687569;16713569;18029348;18039666;18391951;18407833;18552123;18660489;18775984;19307714;19386620;20360068;20360394;20379614;20546612;20679221;21139048;21204776;21358275;21890473;21906983;23000965;23754689;23922881;24778252 96764 E5RJW7;Q96RS0 ABBA01041748;ABBA01041749;ABBA01041750;ABBA01041751;AC018607;AC100817;AF286340;AF432215;AK026648;AK055178;AK314693;AL832426;AMYH02018011;AMYH02018012;AY028423;AY534911;BC011999;BM853546;BX648548;CH471068;DB082992;NM_024831;XM_005251328;XM_006716485;XM_006716486 AAH11999;AAI60105;AAK27730;AAK83025;AAL99922;AAT02709;BAB15516;BAG37244;BAG51481;EAW86761;EAW86762;EAW86763;NP_079107;Q96RS0;XP_005251385;XP_006716548;XP_006716549 Hs.335068 1657520;1657524;1710806 RH47106;RH48281;SHGC-84146 DKFZp762A163;FLJ22995;NCOA6IP;PIMT;PIPMT CLL-associated antigen KW-2;OTTHUMP00000226391;PRIP-interacting protein PIPMT;PRIP-interacting protein with methyltransferase domain;PRIP-interacting protein with methyltransferase motif;SEREX-defined;cap-specific guanine-N2 methyltransferase;hepatocellular carcinoma-associated antigen 137;nuclear receptor coactivator 6 interacting protein;nuclear receptor coactivator 6-interacting protein;trimethylguanosine synthase;trimethylguanosine synthase homolog APPROVED protein-coding ENSG00000137574 HGNC:17843 07567 606461 VALIDATED 1602161 THA1P threonine aldolase 1, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); paracetamol (ortholog) 17 17 17 q25.3 72840698 72848293 - 76244671 76252266 - 78248590 78256185 - 6480464 15146197;15757516;16344560;20210993 390816 ABBA01002937;AC087645;AMYH02034051;NG_009023 GLY1 APPROVED pseudo HGNC:18004 INFERRED 733897 TH tyrosine hydroxylase The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 2221752 2229624 - 2185159 2193107 - 2163929 2171805 - 1580026;1580032;1580034;1580036;1580037;1580038;1580048;1580050;737737;1601629;1601631;1601630;1580863;1601632;1601634;1300048;4139904;5128607;5129120;5130724;5128674;5128609;5128616;5129480;5128800;5128830;5129121;5129683;5129532;5128603;5129691;5128821;5128822;5131159;5128768;2289955;2311578;5128620;5508374;6480464;6907045;7240710;8554872;8699517 11246459;12891655;15077008;15684695;15722952;15795180;15820506;15857400;16139102;16251897;16396986;16636198;16650497;17151307;18356740;18385100;18457899;18823370;18987458;19342614;19605093;19968782;21047500;21061149;21178126;21287352;21311677;21323909;21366664;21376343;2573072;2875142;7715703;7814018;9853519;9920892 10391209;10660577;10907721;11326301;11359875;11738155;11834745;11943812;12113410;12358785;12421349;12428766;12457228;12477932;12493595;12527603;12571119;12576454;12610512;12631248;12759555;12782971;12952878;1347949;14570886;14651963;14651989;14675149;14739699;14749349;15135070;15303408;15468323;15476168;15735319;15736042;15744773;15898085;15953356;16252282;16338639;16344718;16360899;16445854;16447258;16516890;16643317;16644734;16731528;16741719;16764822;16887311;17018139;17135716;17194738;17195153;17329957;17391063;17466074;17520326;17698383;17698732;17784840;17869399;17926059;17948905;17972051;17985144;17988588;18023073;18058633;18085551;18181650;18208403;18270970;18343820;18534229;18554280;18574609;18583979;18814238;18979915;19120120;19125082;19156168;19189602;19221445;19224593;19285077;19352218;19360691;19367319;19448984;19491146;19491717;19604093;19674121;19693267;19703902;1973163;19761814;19767753;19772578;19801645;19815691;19833152;19874574;19913121;19958792;20046397;20056467;20067853;20124442;20132525;20146650;20163778;20198643;20301334;20301610;20468064;20564319;20571875;20602615;20628086;20646572;20675101;20706199;20734064;20809526;20818075;20838244;20938049;21083670;21087208;21158937;21265843;21368136;21392500;21407269;21656370;21815951;22001923;22002062;22066143;22083667;22272358;22292987;22336227;22583432;22691284;22815559;23182718;23444366;23481708;23489065;23647419;23762320;23936387;23977047;24055376;24168553;24275212;24891139;2872999;2874140;2882428;2887169;2888085;2892528;2892893;2896667;2902075;2905129;33381;6137760;6150037;7789962;7901013;8101641;8528210;8817341;8889548;9613851;9703425;9754624 7054 E7EQI0;F8W8M5;H0Y670;H0Y677;P07101;P78428 AA447751;ABBA01032100;AC132217;AF536811;AMYH02024187;AY138589;AY144494;AY144495;AY211521;BC104967;BC143611;BC143614;BM718799;CH471158;D00269;DQ677336;DQ677337;M17589;M20911;M20912;M23597;M24790;M24791;NG_008128;NM_000360;NM_199292;NM_199293;X05290;Y00414 AAA61167;AAA61168;AAA61170;AAA61171;AAA61172;AAA61173;AAA61174;AAA61179;AAA77650;AAA77651;AAI04968;AAI43612;AAI43615;AAN39538;AAN39539;AAN73289;AAN73290;AAP43671;ABG73364;ABG73365;BAA25094;BAA25095;BAA25096;BAA25097;CAA28908;CAA68472;EAX02490;EAX02491;EAX02492;EAX02493;EAX02494;NP_000351;NP_954986;NP_954987;P07101 Hs.435609 1680942;1741255;1741279;1742513;1742583;1742867;1799004;1799450;1800102;1800704;1801932;1806348;1814696;1815420;1816704;1822098;1841696;2091648;2091650;2091652;2091654;2091656;2091658;2091660;2091662;2091664;2091666;2091668;2091670;2091672;2091674;2091676;2091678;2091680;2091682;2091684;2091686;2091688;2091690;2091692;2091694;2091696;2091698;2091700;2091702;2091704;2091706;2091708;2091710;2091712;2091714;2091716;2091718;2091720;2091722;2091724;2129125;2189771;2216796;2216798;2216800 ECD00347;ECD00576;ECD00907;ECD01213;ECD01847;ECD04129;ECD08379;ECD08746;ECD09396;ECD12135;ECD22045;GDB:179880;GDB:180306;GDB:197838;GDB:197908;GDB:212652;HUMTH01;REN117106;REN117107;REN117108;REN117109;REN117110;REN117111;REN117112;REN117113;REN117114;REN117115;REN117116;REN117117;REN117118;REN117119;REN117120;REN117121;REN117122;REN117123;REN117124;REN117125;REN117126;REN117127;REN117128;REN117129;REN117130;REN117131;REN117132;REN117133;REN117134;REN117135;REN117136;REN117137;REN117138;REN117139;REN117140;REN117141;REN117142;REN117143;REN117144;RH76200;TH;stSG548738;stSG548739;stSG548741 DYT14;DYT5b;TYH OTTHUMP00000011163;OTTHUMP00000011225;OTTHUMP00000011226;dystonia 14;tyrosine 3-hydroxylase;tyrosine 3-monooxygenase APPROVED protein-coding ENSG00000180176 HGNC:11782 01865 191290;605407 REVIEWED 1316870 THAP1 THAP domain containing, apoptosis associated protein 1 The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 8 8 8 p11.21 41639814 41646471 - 42691817 42698474 - 42836674 42843331 - 6480464;7240710;8554872;8699517 12477932;12575992;12717420;14702039;15111678;15489334;15863623;16189514;16366514;16713569;17003378;17702011;18073205;19182804;19345147;19345148;19528516;19908320;19908325;20083799;20144952;20200153;20211909;20301334;20669277;20687191;20825472;20865765;20925076;21110056;21370264;21425335;21495072;21520283;21538522;21601506;21638323;21752024;21782490;21793105;21800139;21839475;21847143;21988832;22377579;22508326;22652465;22821615;22844099;22903657;22987473;23036512;23180184;23782819;23975424;24135862;8125298;9382482 55145 E9PIS9;Q9NVV9 ABBA01021170;ABBA01021171;AC087533;AI475984;AK001339;AK223231;AL832077;AMYH02017910;BC021721;BG497522;CD639319;CD709111;CH471080;CR457256;NG_011837;NM_018105;NM_199003 AAH21721;ADZ15806;BAA91635;BAD96951;CAG33537;EAW63205;EAW63206;NP_060575;NP_945354;Q9NVV9 Hs.7432 1676248;1678805;1849558;2109947 G19704;RH10510;RH66246;THAP1_9880 DYT6;FLJ10477;MGC33014 4833431A01Rik;OTTHUMP00000229191;OTTHUMP00000229192;OTTHUMP00000229193;THAP domain protein 1;THAP domain-containing protein 1;nuclear proapoptotic factor APPROVED protein-coding ENSG00000131931 HGNC:20856 15496 602629;609520 REVIEWED 1352281 THAP10 THAP domain containing 10 This gene encodes a member of a family of proteins sharing an N-terminal Thanatos-associated domain. The Thanatos-associated domain contains a zinc finger signature similar to DNA-binding domains. This gene is part of a bidirectional gene pair on the long arm of chromosome 15 that is regulated by estrogen and may play a role in breast cancer. [provided by RefSeq, Nov 2010] 15 15 15 q23 48064589 48075644 - 71173681 71184772 - 70881342 70892433 - 1580863;6480464;8554872 12477932;12575992;15489334;16189514;16344560;18575747;19322201 56906 H0YN95;Q9P2Z0 ABBA01038750;AC090868;AK313472;AL360202;AMYH02030723;BC027857;BC072414;CH471082;DA272000;KF456086;NM_020147 AAH27857;AAH72414;ABM81853;ABM85015;ABW03329;BAG36257;CAB96109;EAW77863;NP_064532;Q9P2Z0 Hs.591123 1338409;1674486;1677176 D15S131;SHGC-3419;WI-14661 OTTHUMP00000164569;THAP domain-containing protein 10 APPROVED protein-coding ENSG00000129028 HGNC:23193 15497 612538 REVIEWED 1321069 THAP11 THAP domain containing 11 The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52384625 52386510 + 67876213 67878098 + 67842310 67844195 + 1580863;6480464 12477932;12575992;15489334;18029348;18330356;18585351;18976975;19008924;20360068;21139048;21400515;21890473;21988832;22371484;22505724;22673507;22797925;22990118;23539139;8325628;9853615 57215 Q96EK4 AB015338;ABBA01025461;AC040162;AK289367;AMYH02032244;BC012182;BI261822;BQ898449;CH471092;EF036502;L10378;L10379;NM_020457 AAH12182;ABM83526;ABM86757;ABO65088;BAA34796;BAF82056;EAW83180;NP_065190;Q96EK4 Hs.632200 1732309;1847429;1847431;2156834 A006C32;D16S667E;G20704;RH78543 CTG-B43a;CTG-B45d;HRIHFB2206 OTTHUMP00000174850;RONIN;THAP domain-containing protein 11 APPROVED protein-coding ENSG00000168286 HGNC:23194 11629 609119 REVIEWED 1323240 THADA thyroid adenoma associated ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; cisplatin 2 2 2 p21 43297429 43661961 - 43457975 43823185 - 43230836 43596046 - 6480464;8554872 11214970;12063398;12477932;12955091;16344560;17123335;18372903;18567820;18591388;18714373;19020323;19020324;19139842;19247373;19324937;19502414;19602701;19670153;19720844;19730683;19741467;19767753;19794065;19833888;19862325;19896111;19933996;20023658;20075150;20203524;20379614;20490451;20564319;20571754;20712903;20816152;20878950;20879858;20889853;21102463;21139048;21145461;21151128;21890473;21906983;21963094;21987572;22139419;22180642;22190364;22863734;22885925;22939629;22952603;23028138;23128233;23208300;23349771;23512105;23725790;23956138;8889548 63892 B5MC89;B6ZDE5;F5H3M9;H0Y3V5;H7BYZ4;Q6YHU6 AB051554;ABBA01075087;ABBA01075088;ABBA01075089;ABBA01075090;ABBA01075091;ABBA01075092;ABBA01075093;ABBA01075094;AC010883;AC092615;AC092838;AC104138;AF323176;AK025445;AK025530;AK126004;AK126824;AK290023;AK307915;AL832141;AMYH02003692;AMYH02003693;AMYH02003694;AMYH02003695;AMYH02003696;AY149629;AY149633;BC007743;BC025773;BC037990;BC105976;BX641038;BX648155;CA312282;DA332700;NM_001083953;NM_001271643;NM_001271644;NM_022065;NR_073394;XM_006712061;XM_006712062;XM_006712063;XM_006712064;XM_006712065;XM_006712066;XM_006712067;XM_006712068;XM_006712069;XR_426993 AAH07743;AAH25773;AAH37990;AAI05977;AAI67788;AAK11318;AAO46785;AAO46789;AAX93152;AAX93154;AAY14994;BAB15133;BAB15162;BAB21858;BAC86389;BAC86709;BAF82712;NP_001077422;NP_001258572;NP_001258573;NP_071348;Q6YHU6;XP_006712124;XP_006712125;XP_006712126;XP_006712127;XP_006712128;XP_006712129;XP_006712130;XP_006712131;XP_006712132 Hs.369592 1335282;1666624;1672752;1696484;1717895;1722205;1726597;1762447;1762885;1770995;1855541;2131681;2177444;2218824;5015619;5015861;5015961;5022322;5037552;5093698;5093782;5109281;7185938 A009V10;A009W31;D10S16;D11S2560;D11S3114;D15S1477;D1S1425;D2S1311;D2S2782;D2S414;D8S2279;G32871;G32921;G60006;G62531;RH122779;RH45356;SHGC-146272;SHGC-146644;SHGC-79810;THADA__5249;WI-14187 FLJ21877;FLJ44016;FLJ44876;FLJ77530;GITA;KIAA1767 OTTHUMP00000201591;OTTHUMP00000201592;death receptor-interacting protein;gene inducing thyroid adenomas protein;thyroid adenoma-associated protein protein-coding ENSG00000115970 HGNC:19217 18177 611800 VALIDATED 1349583 THAP2 THAP domain containing, apoptosis associated protein 2 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); FOUND IN nucleolus; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 12 12 12 q21.1 71720131 71736767 + 72057677 72074428 + 71663897 71680648 + 6480464 11076863;11230166;11256614;12477932;12575992;15231748;15342556;15489334;15489336;16344560;16381901;20972266;21988832;22566634 83591 F8VW94;F8VYP5;F8W1B8;Q9H0W7 ABBA01026512;AC073612;AK313452;AL136607;AMYH02026738;BC008358;BP371303;CH471054;CR533485;DB301707;NM_031435 AAH08358;BAG36240;CAB66542;CAG38516;CAL37961;EAW97265;NP_113623;Q9H0W7 Hs.245798 2159544 AF021117 DKFZp564I0422 OTTHUMP00000241533;THAP domain-containing protein 2 protein-coding ENSG00000173451 HGNC:20854 10896 612531 VALIDATED 1351040 THAP3 THAP domain containing, apoptosis associated protein 3 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INTERACTS WITH copper(2+) sulfate; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p36.31 5799113 5809502 + 6684925 6695646 + 6624865 6635586 + 1580863;6480464 12477932;12575992;14702039;15489334;16710414;18187620;20200153;21832049;21906983;8889548 90326 K7EIZ2;Q8WTV1;R4GNH0 ABBA01035459;ABBA01035460;AF086370;AK096217;AL031447;AMYH02000180;BC005114;BC022081;BC092427;BE905510;BM931707;BU624154;CH471130;NM_001195752;NM_001195753;NM_138350;XM_005263532 AAH05114;AAH92427;ABM82596;ABM85782;BAC04727;EAW71562;EAW71563;EAW71564;EAW71565;EAW71566;EAW71567;EAW71568;EAW71569;NP_001182681;NP_001182682;NP_612359;Q8WTV1;XP_005263589 Hs.689006 1646894;1684896;1725655;1734594;1772310;2142101;2167219;2170020;5093094 A009F43;D1S1772E;D1S2188;G32516;G62036;RH36717;SHGC-150;SHGC-57899;SHGC-74158 MGC33488 OTTHUMP00000001578;OTTHUMP00000001579;OTTHUMP00000001580;THAP domain-containing protein 3 protein-coding ENSG00000041988 HGNC:20855 18178 612532 VALIDATED 1342863 THAP4 THAP domain containing 4 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INTERACTS WITH copper(2+) sulfate; disodium selenite; ethyl methanesulfonate 2 2 2 q37.3 236191554 236248451 - 242523820 242576753 - 241584405 241637338 - 1580863;6480464 10810093;12477932;12575992;14702039;15489334;15498874;15815621;16169070;20171287;21832049;21900206;22939624;23535732;24816145;8125298 51078 B5MCC0;Q8WY91 ABBA01006056;ABBA01006057;ABBA01006058;ABBA01006059;AC133528;AC133781;AF132970;AF258556;AK001216;AK225608;AMYH02006115;BC000247;BC000767;BC001842;BC009439;BC069235;BC071896;BC094822;BX405245;CH471063;NM_001164356;NM_015963;XM_005247016 AAD27745;AAG23759;AAH00247;AAH00767;AAH01842;AAH09439;AAH69235;AAH71896;AAH94822;AAY14918;BAA91560;EAW71276;EAW71277;NP_001157828;NP_057047;Q8WY91;XP_005247073 Hs.435759 2153129;2175291 A003A42;D2S2817 CGI-36;PP238 OTTHUMP00000164605;OTTHUMP00000200176;OTTHUMP00000200177;THAP domain-containing protein 4 protein-coding ENSG00000176946 HGNC:23187 11630 612533 VALIDATED 7174761 THAP5P1 THAP domain containing 5 pseudogene 1 7 7 7 q36.3 152847469 152848677 - 158414865 158416073 - 158622173 158623381 - 12690205;12853948 285872 ABBA01032314;AC093662;AMYH02017180;CH236954;NG_005177 EAL23928 pseudo HGNC:22340 INFERRED 7174765 THAP5P2 THAP domain containing 5 pseudogene 2 3 3 3 p24.3 16255492 16256466 - 16316566 16318019 - 16275059 16276512 - 100129618 ABBA01025130;AC090953;AMYH02006341;NG_028903 pseudo HGNC:44502 INFERRED 1320801 THAP6 THAP domain containing 6 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); FOUND IN microtubule cytoskeleton; INTERACTS WITH cyclosporin A 4 4 4 q21.1 73735788 73751370 + 76439654 76468610 + 75514444 75543400 + 1580863;6480464 11076863;11230166;11256614;12477932;12575992;14702039;15489334;15489336;16344560;16381901;21988832 152815 D6RBC3;D6RC19;D6REL7;D6REQ5;D6RF27;D6RFK7;D6RJG2;Q8TBB0 ABBA01063343;AC096759;AK056959;AK303658;AK308914;AK309187;AK310575;AK313765;AL833350;AMYH02009490;BC022989;BX647579;CH471057;DA995979;NM_144721;XM_005262772;XM_005262773;XM_005262774;XM_006714109;XM_006714110;XR_427530 AAH22989;BAG36503;BAG64658;CAI46093;CAI46111;CAL37868;CAL38579;EAX05730;EAX05731;EAX05732;EAX05733;EAX05734;EAX05735;EAX05736;NP_653322;Q8TBB0;XP_005262829;XP_005262830;XP_005262831;XP_006714172;XP_006714173 Hs.479971 1687602;1749051;1773436;2106717;2154764;5017530;5118444 D11S3316;IB822;RH98829;SHGC-110679;SHGC-50481;THAP6;THAP6__5250 MGC30052 OTTHUMP00000160601;OTTHUMP00000219099;OTTHUMP00000219101;OTTHUMP00000219103;THAP domain-containing protein 6 protein-coding ENSG00000174796 HGNC:23189 15499 612535 VALIDATED 1353274 THAP5 THAP domain containing 5 ENCODES a protein that exhibits protease binding; INVOLVED IN negative regulation of cell cycle; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); cisplatin 7 7 7 q31.1 103016042 103023538 - 108202671 108210189 - 108562144 108569768 - 6480464;8554872 12477932;12575992;12690205;15231748;17207965;19502560;20602751;21110952;21195082;21906983;22006218;24250222 168451 C9JIH7;Q7Z6K1 ABBA01057890;AC005058;AL833137;AMYH02016532;AW407519;BC040353;BC053634;BF244164;BI830307;BU567660;CH236947;CH471070;NM_001130475;NM_001287598;NM_001287599;NM_001287601;NM_182529 AAH53634;ADQ33081;EAL24383;EAW83436;EAW83437;NP_001123947;NP_001274527;NP_001274528;NP_001274530;NP_872335;Q7Z6K1 Hs.707689 2150063;2182115 G36369;SHGC-36567 DKFZp313O1132 OTTHUMP00000207003;OTTHUMP00000207004;OTTHUMP00000207005;OTTHUMP00000207007;THAP domain-containing protein 5 protein-coding ENSG00000177683 HGNC:23188 15498 612534 VALIDATED 1317614 THAP7 THAP domain containing 7 ENCODES a protein that exhibits C2H2 zinc finger domain binding; protein N-terminus binding; INVOLVED IN negative regulation of transcription, DNA-templated; FOUND IN nuclear speck; INTERACTS WITH atrazine; copper(2+) sulfate; elemental selenium 22 22 22 q11.2 4845380 4847723 - 21354061 21356404 - 20999772 21002115 - 1580863;6480464 12477932;12575992;15461802;15489334;15561719;16189514;16195249;16341674;17577209;18029348;18585351;20211142;21832049;21900206;21988832;24250222 80764 Q9BT49 ABBA01015433;AC002472;AK024609;AK025906;AK300715;AK315457;AMYH02038086;BC004346;BE264280;BI223500;BM790105;CH471176;CR456343;NM_001008695;NM_030573 AAH04346;ACE87080;ACE87760;BAG37844;BAG62392;CAG30229;CAK54485;CAK54784;EAX02918;EAX02919;EAX02920;EAX02921;NP_001008695;NP_085050;Q9BT49 Hs.512756 1676506;2154668 RH15764;STS-H59275 MGC10963 OTTHUMP00000198642;OTTHUMP00000198643;THAP domain-containing protein 7 protein-coding ENSG00000184436 HGNC:23190 15500 609518 VALIDATED 5509656 THAP7-AS1 THAP7 antisense RNA 1 22 22 22 q11.21 4847530 4855966 + 21356211 21364663 + 21001922 21010374 + 12477932;14702039 439931 ABBA01015433;AC002472;AK096901;AK097739;AMYH02038086;AW291941;BC065749;BC110368;KF459851;NR_027051;NR_027052 BAC04889 Hs.517430 2154668 STS-H59275 FLJ39582;FLJ40420 APPROVED ncrna ENSG00000230513 HGNC:41013 VALIDATED 1349156 THAP9 THAP domain containing 9 ENCODES a protein that exhibits sequence-specific DNA binding; transposase activity; INVOLVED IN DNA integration; DNA recombination; transposition, DNA-mediated; INTERACTS WITH all-trans-retinoic acid; ethyl methanesulfonate; methyl methanesulfonate 4 4 4 q21.22 81112405 81131838 + 83821837 83841284 + 82900684 82920131 + 6480464 12477932;12575992;14702039;15616143;16344560;23349291;8125298 79725 D6R957;D6RCT5;D6REM3;F2Z371;H0Y9F3;Q9H5L6 ABBA01063449;AC021105;AJ717666;AK026973;AK091412;AK225333;AMYH02009610;BC131722;BX648134;DA317935;DB154392;NM_024672;XM_005263220;XM_005263221;XR_244647 AAI60017;BAB15609;BAG52354;CAG30691;NP_078948;Q9H5L6;XP_005263277;XP_005263278 Hs.582050 1690960;2179529 RH94109;SHGC-67806 FLJ23320;FLJ34093;hTh9 DNA transposase THAP9;OTTHUMP00000160801;THAP domain-containing protein 9 protein-coding ENSG00000168152 HGNC:23192 15502 612537 VALIDATED 6767520 THAP9-AS1 THAP9 antisense RNA 1 4 4 4 81105173 81112637 - 83814605 83822069 - 82893452 82900916 - 11309667;12477932;16341674;16344560;9461396 100499177 ABBA01063449;AC021105;AF278605;AK128047;AK128593;AMYH02009610;BC016510;BC020725;BC045722;BC063702;BI831787;BM742750;DA084883;DA361777;DA923162;HG497039;HG497040;HG497041;HG497042;HG497043;HG497044;HG497045;HG497047;HG497048;NR_034075;NR_034076;NR_034077;U92014 Hs.728916 1664042;5020948;5092674 A005P30;G32257;G35510 RP11-163O17.1 APPROVED ncrna ENSG00000251022 HGNC:44172 VALIDATED 1343379 THAP8 THAP domain containing 8 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INTERACTS WITH aflatoxin B1; hydrogen peroxide 19 19 19 q13.12 33240067 33259840 - 36525886 36545664 - 36034984 36054762 - 1580863;6480464 12477932;12575992;14702039;15489334;16169070;17207965;21988832;24250222 199745 B4DKM9;B4DMU1;E5RHW1;Q8NA92;U3KQ16 ABBA01018777;AC002116;AD000813;AK057453;AK093048;AK296640;AK297630;AMYH02035999;BC046207;BC072416;JQ410992;NM_152658;XM_005258623 AAH46207;AAH72416;ADQ32020;AFC88284;BAB71493;BAC04034;BAG59241;BAG60003;NP_689871;Q8NA92;XP_005258680 Hs.350209 1336138;1662644;2109949;7185335 D19S224;RH15953;THAP8__5251 FLJ32891 OTTHUMP00000045819;OTTHUMP00000226860;THAP domain-containing protein 8 protein-coding ENSG00000161277 HGNC:23191 15501 612536 PROVISIONAL 1353555 THAS thoracoabdominal syndrome ASSOCIATED WITH Pentalogy of Cantrell (inferred) 7240710 2139758 7055 HGNC:11783 313850 1349382 THBD thrombomodulin The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008] 20 20 20 p11.2 23099650 23103681 - 23026270 23030301 - 23045633 23049664 - 1580052;1580053;1580060;1580061;634506;1601638;1601651;1601636;1601645;1601646;1601652;1601640;1601639;1601641;1601654;1580863;2312456;2312457;2312460;1601648;2312458;2312461;2312459;2312462;5684980;5685021;5684985;5685006;5685020;5685017;5685018;5685023;5685037;5684978;5684981;5685033;5684983;5684984;5685015;5684986;5685013;5685010;5685034;5684988;5684995;5685036;5685038;5685372;5685011;5685035;5131887;5685024;5684979;5684982;5684994;5685007;5684987;6480464;6907045;7240710;8554872;8699517 10231031;11453033;11596671;11738074;11882417;12480554;12611420;12707536;14737039;15187749;15209962;15262191;15307903;15519195;15574195;15700117;15760641;16095049;16136486;16567841;16651309;16784493;16879225;17012137;17067436;17090405;17195062;17200788;17401180;17557119;17577447;17804460;17895610;17899683;18484695;19176699;19342415;19461288;19487933;19536047;20156770;20160670;20348393;20418386;20581778;20607726;20709825;21112949;21556780;21569368;21645225;21812019;21873362;21885846;22129968;22170884 10066849;10336638;11106601;11231927;11245641;11257274;11552992;11642722;11734675;11780052;11846431;11848462;11858479;11864703;11864708;11986219;12031986;12066950;12068020;12135317;12139752;12204814;12210386;12297717;12407115;12477932;12576329;12588872;12709053;12831611;12862205;12871544;12871600;12878585;12918732;12920633;12951323;14523329;14556624;14691232;14702039;14715348;14769148;14983241;14987915;15080580;15099291;15135268;15178554;15183044;15488871;15489334;15582990;15613027;15677570;15705565;15714116;15837080;15842356;15897668;15900300;16043642;16126727;16153429;16307806;16418283;16456088;16507317;1667949;17003923;17049585;17099142;17099210;17275499;17278618;17287633;17379830;17677000;17702963;17848551;17849052;17875054;17895503;17982464;18035074;18204921;18373234;18568955;18579691;18590927;18940182;18947863;18974842;18977990;18991188;19055859;19074424;19091791;19133039;19238444;19278588;19356953;19420105;19436051;19477487;19578796;19609862;19625716;19638712;19656282;19682239;19900089;19913121;19948975;20036902;20051099;20116378;20128871;20237496;20301541;20309589;20346360;20379614;20452482;20453000;20479115;20479116;20479117;20505198;20513133;20538124;20542541;20627281;20628086;20673868;20713448;21041299;21150180;21239103;21370217;21423464;21466416;21489980;21774968;21805323;21828042;21833011;21890178;21896842;21911804;21988832;22206250;22232927;22410019;22426543;22496090;22533488;22573811;22593542;22682121;22689672;22734102;22750541;22796578;22880619;22903729;22918506;22985614;23140098;23274063;23292007;23383040;23383108;23520161;23741007;23829893;23844043;23881386;23918310;23950139;23954867;24049150;24324551;24366193;2538457;2544585;2819876;2820710;2822087;2836377;2839283;3001144;7559494;7615164;7811989;7947766;8216207;8244401;8390446;8528067;8661740;8663147;8745396;9045633;9157575;9198186;9252393;9367781;9395524;9843165 7056 P07204 ABBA01016174;AF495471;AI285986;AK091934;AK123557;AL049651;AMYH02036831;BC035602;BC053357;BG771668;CH471133;D00210;J02973;M16552;NG_012027;NM_000361;X05495 AAA61175;AAB59508;AAH35602;AAH53357;AAM03232;BAA00149;BAG53913;CAA29045;EAX10172;NP_000352;P07204 Hs.2030 1654920;1670816;1721437;1776949;1796934 D20S1074;G59570;RH17358;RH48330;THBD_277 AHUS6;BDCA3;CD141;THPH12;THRM;TM CD141 antigen;OTTHUMP00000030415;fetomodulin APPROVED protein-coding ENSG00000178726 HGNC:11784 01764 188040;612926;614486 REVIEWED 1345942 THBS1 thrombospondin 1 The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008] 15 15 15 q15 16636119 16652508 + 39873280 39889668 + 39581079 39597467 + 1580062;1580063;1580064;1580065;1580066;1580863;2325029;2325028;2317960;2317961;1626167;2325023;2325024;2317938;2317939;2317942;2317943;2317959;2325022;2325025;2325026;2325021;2325027;2317941;6480464;6484113;6907045;8554872 10427124;10766168;12213730;12429967;12927044;15007078;15140581;15217952;15459484;16076702;16179730;16270194;16465407;16630453;16757110;17117553;17640965;17878288;19065635;19719963;20136391;20203415 101549;10397731;10398144;10487979;10698186;10749676;10772961;10900205;10922378;10982388;11023976;11067851;11094060;11134179;11358957;11606713;11773026;11801541;11820799;11882904;11920574;11964147;11980922;11986954;12054567;12147243;12147682;12220191;12358136;12391027;12443715;12444143;12450399;12477932;12482844;12530526;12553016;12598312;12609716;12643280;12658547;12676576;12679131;12718556;12759541;12782324;12824298;12878157;12902472;12909644;12947001;12964017;1350660;14555767;14557872;14559817;14561896;14568985;14583433;14683523;14718574;14963009;14991768;15014436;15034804;15037654;15095410;15113588;15166498;15258909;15292271;15342643;15347840;15356163;15456750;15503824;1550960;15522326;15583827;15634279;15634883;15665307;15696166;15700281;15730804;15792551;15799029;15817447;15820829;15833768;15855645;15890262;15907858;15908066;15927849;15945504;16006654;16037098;16100012;16141331;16147889;16148025;16150726;16166434;16263699;16335952;16344560;16388804;16478297;16495290;16502470;16618977;16650813;16684956;16732887;16740002;16835379;16882710;16951312;16962673;17106256;17175378;17198740;17289869;17363705;17374440;17378161;17413041;17416590;17487836;17507668;17572512;17596205;17620335;17638877;17706282;17709727;17879962;17917789;17996481;18021253;18035072;18057090;18089612;18096704;18178577;18208671;18222489;18226512;18275041;18319354;18321763;18336597;18384112;18413367;18425817;18499674;18515748;18555217;18641687;18653767;18661355;18674744;18675774;18676351;18688696;18700275;18712840;18726995;18757424;18788631;18853485;18855616;18855618;18940719;19056867;19239428;19250552;19271751;19322201;19351925;19383251;19396698;19414528;19422532;19435835;19447890;19485899;19509293;19531495;19542224;19570906;19581582;19584238;19661269;19687096;19698122;19706610;19710505;19715883;19721725;19732880;19738618;19747478;19762163;19805200;19826414;19906510;19913121;19958625;19959938;19998449;20016205;20056600;20103648;2010551;20182908;20204299;20300551;20346360;20360068;20372793;20449626;20452482;20453000;20458281;20467328;20470445;20485444;20492458;20494556;20498063;20546609;20625903;20628086;20655775;20673868;20705333;20876797;20923780;20927579;21107877;21139048;21142150;21148423;21152035;21157449;21161418;21193465;21217824;21296375;21307796;21317461;21343308;21378271;21402050;21420687;21437286;21474793;21501375;21518247;21526452;21531776;21565611;21659549;21762961;21822266;21845757;21883885;21899841;22011138;22014686;22024541;22028325;22028813;22035632;22037878;22136730;22194599;22198906;22207555;22231149;22238753;22247259;22268819;22308318;22311024;22318901;22383169;22403705;22583901;22592401;22672426;22750995;22796565;22971480;22982001;23030305;23085760;23119050;23145312;23202046;23315169;23350987;2335352;23380452;2341158;23463593;23528972;23614916;23660684;23664438;23667531;23677673;23749764;23933487;23995838;24013228;24053448;24223867;2430973;24314882;2435757;24371140;24505433;24511121;24615654;24618326;24679443;2478219;24877199;2522013;2544587;2745554;2918029;3030396;3084490;3402455;3461443;3571333;3997886;6338048;6438154;6693501;6777381;7521539;7775583;8288588;8408036;8463250;8550562;8751720;9045712;9169439;9304800;9328841;9334164;9419208;9459346;9478926;9657149;9840442;9867861 7057 A8MZG1;P07996 AB209912;ABBA01038471;AC037198;AI290070;AK291639;AK293230;AK304754;AK309613;AK310820;AMYH02030226;AU117102;AU279999;BC028145;BC136469;BC136470;BG251169;CA411820;CH471125;J04835;M14326;M25631;M99425;NM_003246;U12471;X04665;X14787 AAA21127;AAA36741;AAA61178;AAA61237;AAB59366;AAH28145;AAI36470;AAI36471;BAD93149;BAF84328;BAG56769;BAG65509;CAA28370;CAA32889;EAW92379;EAW92380;EAW92381;NP_003237;P07996 Hs.164226 1729101;1792520;1792848;1796936;1856769;2180781;2186769;2190789;5017591 6STS01;D15S1164;PMC152639P1;PMC165731P1;RH70562;RH77893;THBS1;THBS1_279;Tcf12 THBS;THBS-1;TSP;TSP-1;TSP1 OTTHUMP00000165029;thrombospondin-1;thrombospondin-1p180 APPROVED protein-coding HGNC:11785 01765 188060 REVIEWED 1314326 THBS3 thrombospondin 3 The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011] 1 1 1 q21 128238661 128250972 - 155165379 155177772 - 155195588 155208906 - 1580863;6480464;6907045;8554872 10329465;10527891;11137453;11943589;12477932;1459996;15489334;1601886;16344560;17022822;6338048;7558000;7759526;8125298;8288588;8468055;9331372 7059 B4DQH6;F5H4Z8;P49746;Q2HIZ1 ABBA01016713;AC234582;AF023268;AK074796;AK223278;AK298592;AK298803;AK298914;AK311031;AK314337;AL713999;AMYH02001941;BC018786;BC113846;BC113847;BX490216;CH471121;DA755868;L38969;NM_001252607;NM_001252608;NM_007112;NR_045553;XM_006711498;XM_006711499;XM_006711500;XM_006711501;XM_006711502;XR_426793;XR_426794;XR_426795 AAC41762;AAC51818;AAH18786;AAI13847;AAI13848;BAD96998;BAG52003;BAG60782;BAG60938;BAG61021;EAW53109;EAW53110;NP_001239536;NP_001239537;NP_009043;P49746;XP_006711561;XP_006711562;XP_006711563;XP_006711564;XP_006711565 Hs.169875;Hs.658188 1768630;2153445 RH69319;WI-12606 MGC119564;MGC119565;TSP3 OTTHUMP00000033827;thrombospondin-3 APPROVED protein-coding ENSG00000169231 HGNC:11787 01767 188062 REVIEWED 1322186 THBS2 thrombospondin 2 The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008] 6 6 6 q27 170328643 170365927 - 169615875 169654137 - 169215780 169254114 - 1580069;1580071;1580863;2317938;1598407;6480464;6907045;7240710;8554872 12482844;15284191;20136391 10329465;10491303;10900205;11147677;11387198;11590138;11943589;11980922;12058057;12358136;12477932;12732502;12824879;12861025;12909644;14561659;1459996;15121769;15347840;1559694;16186819;16246837;16344560;17182969;17202846;17334638;1737102;17620335;17638877;18032585;18089612;18178577;18455130;18600213;18682400;18718009;18720079;18955754;19056482;19282863;19578796;19592030;19631562;19818485;19913121;20227257;20472562;20485444;20628086;21682699;21762961;21949402;22035575;22308237;23251661;23387388;23470460;23660684;23843355;24250222;24374826;6338048;8406456;8463250;8889548;9249061;9442117 7058 P35442;Q5RI53;Q6MZL6 AA853383;AA853654;ABBA01000386;ABBA01000387;ABBA01000388;AI130835;AK292429;AL603377;AMYH02015001;BC146676;BC150175;BM971657;BX322234;BX390187;BX641023;CA411880;CH471051;DB291377;L12350;M81339;NG_022911;NM_003247;U79410 AAA03703;AAI46677;AAI50176;BAF85118;CAE46014;EAW47453;EAW47454;EAW47455;NP_003238;P35442 Hs.371147 1768886;1791628;1796938;2151253;2168530 PMC117612P2;RH66433;RH67905;SHGC-12844;THBS2_1305 TSP2 OTTHUMP00000042899;thrombospondin-2 APPROVED protein-coding ENSG00000186340 HGNC:11786 01766 188061;603932 REVIEWED 735475 THBS4 thrombospondin 4 The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. Studies of the rat counterpart suggest that this protein may be involved in local signaling in the developing and adult nervous system. [provided by RefSeq, Jul 2008] 5 5 5 q13 75232509 75280442 + 79331170 79379111 + 80035347 80083287 + 1580073;1580863;6480464;6907045;8554872 15897551 10501972;11137453;11967953;12477932;12482844;12952849;14674882;15121769;15131549;15474480;15489334;16099885;16148025;16246837;16923428;17182969;17202846;17709521;17927980;18178577;18802666;19420105;19578796;19834535;19913121;20227257;20452482;20485444;20628086;20628624;20673868;20846368;21701537;22011848;22745497;23420636;23942617;6338048;7490284;7519904;7852353;8350346;8432726 7060 E7ES19;P35443 ABBA01062029;AC012636;AC112184;AK302842;AK313587;AMYH02011659;AY566253;BC050456;CH471084;NM_003248;Z19585 AAH50456;AAS66982;BAG36356;BAH13818;CAA79635;EAW95841;NP_003239;P35443 Hs.211426 1650237;2191177;5017724 MARC_15765-15766:1041972257:1;SHGC-12514;THBS4 TSP4 OTTHUMP00000135313;OTTHUMP00000222343;thrombospondin-4 APPROVED protein-coding ENSG00000113296 HGNC:11788 02836 600715 REVIEWED 1350927 THC2 thrombocytopenia 2 (autosomal dominant) ASSOCIATED WITH THROMBOCYTOPENIA 2 (inferred) 7240710 10521306 23672 HGNC:11790 188000 5688605 THEGL theg spermatid protein-like INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 54902790 54976066 + 57396775 57469489 + 56530609 56603323 + 6480464 12477932 100506564 P0DJG4 ABBA01003426;ABBA01003427;ABBA01003428;ABBA01003429;ABBA01003430;AC108215;AMYH02009258;DB450279;DW009623;DY655427;DY655539;NM_001256475 NP_001243404;P0DJG4 Hs.573073 1337818;1650169;1677292;2115239 D4S1583;D9S2017;SHGC-67420;STS-T87883 testicular haploid expressed gene protein-like;theg spermatid-like protein;uncharacterized protein LOC100506564 protein-coding ENSG00000249693 HGNC:43771 VALIDATED 1319470 THEG theg spermatid protein This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 19 19 19 p13.3 436315 450267 + 361750 376688 - 361750 376688 - 1580863;6480464 10747865;11173852;12477932;12748127;16189514;19060904 51298 Q9P2T0;U3KQD4 AB033129;ABBA01002556;ABBA01002557;AC010641;AC016588;AF268610;AMYH02035106;BC028574;CH471242;DR731298;NM_016585;NM_199202;XM_005259569 AAG17663;AAH28574;ABM81821;ABM84975;BAA93718;EAW61203;EAW61204;EAW61205;NP_057669;NP_954672;Q9P2T0;XP_005259626 Hs.250002 CT56;MGC26138;THEG1 OTTHUMP00000229948;OTTHUMP00000229950;Theg homolog;cancer/testis antigen 56;testicular haploid expressed gene protein;testis-specific APPROVED protein-coding ENSG00000105549 HGNC:13706 15503 609503 REVIEWED 1603281 THEM4 thioesterase superfamily member 4 Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [provided by RefSeq, Jul 2008] 1 1 1 q21 124960686 124996752 - 151843342 151882361 - 151870866 151909885 - 6480464 11598301;12477932;14702039;15026474;16341674;16751776;17615157;18029348;19168129;19604401;19679565;20877624;22200884;8889548 117145 A8K0C9;E9PLJ7;F6XC58;Q5T1C6 ABBA01049406;AF075119;AJ313515;AK024219;AK096211;AK130716;AK289494;AK314852;AL450992;AMYH02001890;BC017339;BC065277;BE349541;BM688785;BM787449;BQ774123;CH471121;DC353229;DQ579333;DQ586175;NM_053055 AAH65277;BAC85412;BAF82183;BAG37369;CAC86384;EAW53400;EAW53401;EAW53402;NP_444283;Q5T1C6 Hs.164070 1682662;1683621;2117887;2151320;5015961;5021396;5022200;5022322;5022578;5037552 D11S2560;D15S1477;D1S1423;D8S2279;GDB:313783;L18426;RH48117;RH64680;RH94002;WI-17569 CTMP;FLJ27206;MGC29636 C-terminal modulator protein;OTTHUMP00000015248;acyl-CoA thioesterase THEM4;acyl-coenzyme A thioesterase THEM4;carboxyl-terminal modulator protein APPROVED protein-coding HGNC:17947 16215 606388 REVIEWED 1601923 THEM5 thioesterase superfamily member 5 ENCODES a protein that exhibits palmitoyl-CoA hydrolase activity; INVOLVED IN long-chain fatty-acyl-CoA metabolic process; cardiolipin acyl-chain remodeling (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrial matrix; INTERACTS WITH 3-methylcholanthrene; 17alpha-ethynylestradiol (ortholog); benzo[a]pyrene (ortholog) 1 1 1 q21.3 124934271 124940820 - 151818220 151826173 - 151845744 151855451 - 6480464;8554872 12477932;14702039;20237496;20877624;22586271 284486 H0Y6P4;Q8N1Q8 ABBA01049405;AK095283;AL450992;AMYH02001889;BC101610;BC112239;CH471121;NM_182578;XM_005245095 AAI01611;AAI12240;ADR82891;BAC04521;EAW53404;NP_872384;Q8N1Q8;XP_005245152 Hs.132648 2142877 RH66023 ACOT15;FLJ37964;MGC126659;MGC138444 OTTHUMP00000015272;OTTHUMP00000015273;acyl-CoA thioesterase THEM5;acyl-coenzyme A thioesterase 15;acyl-coenzyme A thioesterase THEM5 protein-coding ENSG00000196407 HGNC:26755 08233 615653 VALIDATED 1602485 THEM6 thioesterase superfamily member 6 FOUND IN extracellular region (inferred); INTERACTS WITH (-)-demecolcine; cadmium atom; cobalt dichloride 8 8 8 q24.3 140119708 140129412 + 143808621 143818350 + 142727203 142736932 + 6480464 12477932;14702039;16303743;16341674;17110338;20360068;21139048;21182205;21906983;21963094;22082156;23956138;24457600;24816145 51337 B4DWJ7;H0YAR9;Q8WUY1 ABBA01005289;AC083841;AC108002;AF242773;AK055140;AK075407;AK301564;AK315614;AMYH02018926;BC001311;BC019104;BM744164;CH471162;NM_016647;XM_005250955 AAF65450;AAH01311;AAH19104;BAC11600;BAG37983;BAG63059;EAW82309;NP_057731;Q8WUY1;XP_005251012 Hs.368402 1676101;2117276;2169160;5019689 A009E39;G32486;RH15611;RH98969 C8orf55;DSCD75 OTTHUMP00000227198;UPF0670 protein C8orf55;UPF0670 protein THEM6;mesenchymal stem cell protein DSCD75 APPROVED protein-coding ENSG00000130193 HGNC:29656 14241 VALIDATED 5686949 THEM4P1 thioesterase superfamily member 4 pseudogene 1 12 12 p12.1 22161592 22162324 + 22008658 22009390 + 677880 ABBA01067977;AC092862;AMYH02026173;NG_032023 pseudo HGNC:32692 INFERRED 1603481 THEMIS thymocyte selection associated This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and maturation of T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 6 6 6 q22.33 128771575 128982019 - 128029339 128239776 - 127708194 127918631 - 6480464;8554872 11329013;12477932;14702039;16344560;19597497;19597498;19597499;19620281;19621038;19805304;19913121;20095854;20190752;20628086;21189249;21833088;22505724;22610119;22610502;22732588;23455924;23460737;23534349;23820479;24816145 387357 Q8N1K5;X1WI26 ABBA01025925;ABBA01025926;ABBA01025927;ABBA01025928;AK094863;AK097903;AK124031;AK128377;AK292046;AL035470;AL356432;AL365224;AMYH02014455;AMYH02014456;AMYH02014457;BC043608;BC130516;BC144034;BG461112;BX640890;BX956657;CH471051;DA818250;GN344755;HI574290;NG_016226;NM_001010923;NM_001164685;NM_001164687;XM_005266974;XM_006715476;XM_006725017;XM_006725018 AAI30517;ADR83235;BAC05194;BAF84735;BAG52943;BAG53994;BAG54669;CAE45941;CAY56007;CBX47634;EAW48091;EAW48092;NP_001010923;NP_001158157;NP_001158159;Q8N1K5;XP_005267031;XP_006715539;XP_006725080;XP_006725081 Hs.661756 1684501;1718601;1721223;1785948;2150912;2184951;5094150 G54574;G59455;RH122986;RH37468;RH93059;SHGC-144779;WI-10674 C6orf190;C6orf207;FLJ40584;GASP;MGC163388;SPOT;bA325O24.3;bA325O24.4 GRB2-associated protein;OTTHUMP00000017177;TSEPA;signaling phosphoprotein specific for T cells;thymocyte expressed molecule involved in selection;thymocyte selection pathway associated;thymocyte-expressed molecule involved in selection APPROVED protein-coding ENSG00000172673 HGNC:21569 16662 613607 REVIEWED 1353481 THEMIS2 thymocyte selection associated family member 2 INVOLVED IN cell adhesion (inferred); inflammatory response (inferred); T cell receptor signaling pathway (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; tamibarotene 1 1 1 p35.3 26594105 26609051 + 28199055 28213196 + 27872543 27886685 + 6480464 12191572;12477932;14702039;15489334;16219472;16710414;19308812;19942713;20379614;20569072;20644716;21455565;22565810;22732588;23474491;9563507 9473 H7C124;Q5TEJ8;Q5TEK2;Q8N1V6;X6RK39 AA477142;AB035482;AB050854;ABBA01034998;ABBA01034999;ABBA01035000;ABBA01035001;AF044896;AF323721;AK094833;AK303090;AK303141;AL109927;AL554503;AMYH02000611;AMYH02000612;BC031655;BC132692;BC133049;BG716895;BI908174;BM146655;CH471059;CR749321;DB548309;NM_001039477;NM_001105556;NM_001286113;NM_001286115;NM_004848;XM_005246041;XM_006711050 AAC16284;AAH31655;AAI32693;AAI33050;ADR83502;BAA96464;BAB33313;BAC04431;BAG64201;BAG64245;CAH18176;EAX07725;EAX07726;EAX07727;EAX07728;EAX07729;EAX07730;NP_001034566;NP_001099026;NP_001273042;NP_001273044;NP_004839;Q5TEJ8;XP_005246098;XP_006711113 Hs.10649 1733014;1734204;2142436 D1S1378;D1S1741E;SHGC-74465 C1orf38;ICB-1 OTTHUMP00000003850;OTTHUMP00000003991;OTTHUMP00000003993;basement membrane-induced;induced by contact to basement membrane 1 protein;thymocyte-expressed molecule involved in selection protein 2 APPROVED protein-coding ENSG00000130775 HGNC:16839 12728 VALIDATED 7380467 THEMIS3P thymocyte selection associated family member 3, pseudogene 18 18 18 8397164 8398178 + 8512825 8513839 + 8512827 8513841 + 20210993 100420484 ABBA01049934;AMYH02034278;AP001793;NG_026308 pseudo HGNC:49196 INFERRED 1349166 THM thymoma ASSOCIATED WITH Thymoma, Familial (inferred) 7240710 7063 HGNC:11792 274230 1603030 THG1L tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) ENCODES a protein that exhibits ATP binding; GTP binding; identical protein binding; INVOLVED IN protein homotetramerization; tRNA processing; tRNA modification (ortholog); FOUND IN mitochondrion; cytoplasm (ortholog); INTERACTS WITH aldehydo-D-glucose; benzo[a]pyrene diol epoxide I; cyclosporin A 5 5 5 q33.3 153184922 153193373 + 157158323 157166982 + 157731315 157739974 + 6480464 11230166;11256614;12477932;14702039;15459185;16189514;18508967;20877624;21044950;21078997;21139048;21784897;21890473;21906983;22863883;22939629;23314748;23844012;8125298 54974 B4E366;E5RIQ8;H0YC78;Q9NWX6 ABBA01044264;AC026407;AF086486;AK000553;AK021663;AK023355;AK223119;AK304590;AL136669;AMYH02012556;AY463216;BC001523;BC001852;BC023521;CH471062;CR533503;NM_017872;XM_005265939 AAH01523;AAH01852;AAH23521;AAS21134;BAA91249;BAB13870;BAB14540;BAD96839;BAG65378;CAB66604;CAG38534;EAW61590;EAW61591;NP_060342;Q9NWX6;XP_005265996 Hs.353090 1683847;1857412;1857414 RH91252;SHGC-57583;SHGC-58349 FLJ11601;FLJ20546;ICF45;IHG-1 OTTHUMP00000160747;induced by high glucose-1;interphase cytoplasmic foci protein 45;probable tRNA(His) guanylyltransferase protein-coding HGNC:26053 13726 PROVISIONAL 1343746 THNSL1 threonine synthase-like 1 (S. cerevisiae) FOUND IN cytoplasm; mitochondrion; nucleus; INTERACTS WITH all-trans-retinoic acid; arsenite(3-); cyclosporin A 10 10 10 p12.1 25006921 25017017 + 25305508 25315593 + 25016579 25026664 + 737633;1580863;6480464 12477932 14702039;15164054;15489334;16344560;16385451;17034760;19615732;20186120;24250222 79896 Q8IYQ7;Q9H6P9 ABBA01034436;AK025655;AK094362;AK125249;AL512598;AMYH02022480;BC016697;BC035132;BX647989;CH471072;CR457346;DA496769;NM_024838;XM_005252597 AAH16697;AAH35132;BAB15205;BAC04338;BAG54173;CAG33627;EAW86113;EAW86114;NP_079114;Q8IYQ7;XP_005252654 Hs.645274 1772138 WI-21957 FLJ22002;TSH1 OTTHUMP00000019329;OTTHUMP00000236096;threonine synthase-like 1;threonine synthase-like 1 (bacterial) protein-coding ENSG00000185875 HGNC:26160 07974 611260 VALIDATED 1605368 THNSL2 threonine synthase-like 2 (S. cerevisiae) This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 2 2 2 p11.2 88299987 88316198 - 88469814 88486156 + 88170295 88186637 + 6480464 12477932;14702039;16169070;16344560;16413481;17034760;18976975;19877052;21299892;22589738;23619471 55258 A8K0C1;C9J3J1;C9JU10;Q86YJ6 ABBA01018805;ABBA01018806;ABBA01018807;ABBA01018808;AC092836;AI313402;AK001778;AK092823;AK095303;AK289486;AK315831;AL832746;AMYH02004254;BC035315;BC047758;BC050699;BC064423;BI765911;CH471215;DA044670;DA196694;DB024675;HM185274;NG_030037;NM_001244676;NM_001244678;NM_018271;XM_005264400;XM_005264401;XM_005264402;XM_005264403;XM_005264404;XM_005264405;XM_006712041;XM_006712042;XM_006712043;XM_006712044 AAH35315;AAH47758;AAH64423;AAX88906;ADL14696;BAA91904;BAF82175;BAF98722;BAG53023;EAW77072;EAW77073;EAW77074;NP_001231605;NP_001231607;NP_060741;Q86YJ6;XP_005264457;XP_005264458;XP_005264459;XP_005264460;XP_005264461;XP_005264462;XP_006712104;XP_006712105;XP_006712106;XP_006712107 Hs.739080;Hs.740434 1699684;2136168;2175726 D2S2610;RH103447;RH47580 FLJ10916;FLJ35504;THS2;TSH2 OTTHUMP00000160830;OTTHUMP00000160831;SOFAT;secreted osteoclastogenic factor of activated T cells;secreted osteoclastogenic factor of activated T-cells;threonine synthase-like 2 APPROVED protein-coding ENSG00000144115 HGNC:25602 07715 611261 REVIEWED 1318555 THOC1 THO complex 1 HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010] 18 18 18 p11.32 89677 143220 - 214520 268059 - 214520 268059 - 6480464;6907045 10512864;11979277;12477932;14702039;14962675;15302935;15358532;15489334;15833825;15870275;15998806;16344560;17081983;17190602;17638875;17699767;18029348;18469354;18974867;19454010;19471022;20237496;20351715;21329510;21693764;21890473;22144908;22178446;22365833;22939629;22952718;23222130;23460917;24332808;24457600;24654937;24816145;25027693;7525595;8125298 9984 J3KRD7;J3KT14;J3QQZ3;Q96FV9;R4GMN4;R4GN58 ABBA01049809;ABBA01049810;AK055354;AK123530;AK225067;AK225709;AK314755;AMYH02034184;AP000845;AY573302;AY573303;BC010381;CH471113;DA902294;L36529;NM_005131 AAA53571;AAH10381;AAT81408;AAT81409;ABM83694;ABW03548;BAG37293;EAX01731;EAX01732;EAX01733;EAX01734;NP_005122;Q96FV9 Hs.712543 1730751;1732029;1732033;1775114;2108961;2135013;2159676 D18S100;D18S550;D18S552;RH17645;RH47243;SHGC-30016;THOC1_9027 HPR1;P84;P84N5;hTREX84;tho1 THO complex subunit 1;nuclear matrix protein p84 APPROVED protein-coding ENSG00000079134 HGNC:19070 09498 606930 VALIDATED 1323248 THOC3 THO complex 3 This gene encodes a component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5'-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, May 2013] 5 5 5 q35.2 122313128 122314601 + 175386534 175395318 - 175959531 175968315 - 1580863;6480464;6907045 11979277;12477932;15489334;15833825;15998806;17190602;18974867;19615732;21139048;21890473;21900206;21906983;21907836;21988832;22118674;22178446;22178508;22505724;22939629;22990118;23000965;23222130;24250222;24816145;25027693 84321 D6REC9;D6RGZ2;H0Y9T1;H0YA11;H0YAG7;H0YAJ0;H7C0C5;Q96J01 ABBA01146528;ABBA01198259;AC138965;AMYH02012808;AW511349;AW628745;BC006849;BC066325;BC068499;BG502664;BU634063;BU781626;CH878413;HY009859;NM_032361 AAH06849;AAH66325;AAH68499;EAW50534;NP_115737;Q96J01 Hs.484227;Hs.535769;Hs.715943 1670375 RH10989 MGC5469;TEX1;THO3;hTREX45 OTTHUMP00000161240;OTTHUMP00000223280;TEX1 homolog;THO complex subunit 3 APPROVED protein-coding ENSG00000051596 HGNC:19072 09497 606929 REVIEWED 1353819 THOC2 THO complex 2 The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010] X X X q25-q26.3 123120365 123252932 - 122734412 122866904 - 123600561 123733054 - 1580863;6480464;6907045;8554872 11979277;12477932;14702039;15302935;15833825;15870275;15998806;16344560;16964243;17081983;17190602;17474147;18187620;18974867;19471022;19596686;19738201;21139048;21693764;21890473;21906983;21963094;22178446;22505724;22586326;22939629;23125841;23222130;24255178;24332808;24457600;24639526;24654937;24816145;9771704 57187 B7ZB98;B7ZBA0;F2Z2V2;H0Y594;H0Y7U4;H0Y815;H7C477;Q8NI27 ABBA01036350;ABBA01036351;ABBA01036352;ABBA01036353;ABBA01036354;ABBA01036355;ABBA01036356;ABBA01036357;ABBA01036358;ABBA01036359;ABBA01036360;ABBA01036361;ABBA01036362;ABBA01036363;ABBA01036364;ABBA01036365;ABBA01036366;ABBA01036367;ABBA01036368;ABBA01036369;AF441770;AK001758;AK023659;AK296780;AL023575;AL030996;AMYH02040400;AMYH02040401;AMYH02040402;AW206982;BC054050;BC063692;BC072400;BF212673;BX648654;CH471107;DA504931;KF459325;KF510626;NG_021468;NM_001081550;XM_005262447;XM_005262450;XM_006724767;XM_006724768;XM_006724769;XM_006724770;XM_006724771;XM_006724772;XM_006724773;XR_430547;Z82901 AAH63692;AAH72400;AAI72220;AAM28436;BAB14630;BAG59358;CAE46196;CAI42864;EAX11863;NP_001075019;Q8NI27;XP_005262504;XP_005262507;XP_006724830;XP_006724831;XP_006724832;XP_006724833;XP_006724834;XP_006724835;XP_006724836 Hs.149991 1665448;1691548;1748217;1798596;1800302;1800636;1805694;1807320;1808144;1809054;1810736;1811764;1812216;1815380;1815672;1816520;1818046;1818048;1818848;1819882;1820386;1820582;1821832;1822142;1825636;1825638;1825886;1826640;1828414;1829922;1829978;1830040;1830272;1830824;1830930;1831492;1831848;1833104;1833658;1834518;1835074;1835824;1836166;1837734;1838118;1838186;1838794;1838796;1841130;1842086;1842250;1842434;1842762;1843566;1844190;1845326;1845480;1845548;1845632;1845828;1845878;1846136;1959922;1959924;1959926;1959928;1959930;1959932;1959934;1959936;1959938;1959940;1959942;1959944;1959946;1959948;1959950;1959952;1959954;1959956;1959958;1959960;1959962;1959964;1959966;1959968;1959970;1959972;1959974;1959976;1959978;1959980;1959982;1959984;1959986;1959988;1959990;1959992;1959994;1959996;1959998;1960000;1960002;1960004;1960006;1960008;1960010;1960012;1960014;1960016;1960018;1960020;1960022;1960024;1960026;1960028;1960030;1960032;1960034;1960036;1960038;1960040;1960042;1960044;1960046;1960048;1960050;1960052;1960054;1960056;1960058;1960060;1960062;1960064;1960066;1960068;1960070;1960072;1960074;1960076;1960078;1960080;1960082;1960084;1960086;1960088;1960090;1960092;1960094;1960096;1960098;1960100;1960102;1960104;1960106;1960108;1960110;1960112;1960114;1960116;1960118;1960120;1960122;1960124;1960126;1960128;1960130;1960132;1960134;1960136;1960138;1960140;1960142;1960144;1960146;1960148;1960150;1960152;1960154;1960156;1960158;1960160;1960162;1960164;1960166;1960168;1960170;1960172;1960174;1960176;1960178;1960180;1960182;1960184;1960186;1960188;1960190;1960192;1960194;1960196;1960198;1960200;1960202;1960204;1960206;1960208;1960210;1960212;1960214;1960216;1960218;1960220;1960222;1960224;1960226;1960228;1960230;1960232;1960234;1960236;1960238;1960240;1960242;1960244;1960246;1960248;1960250;1960252;1960254;1960256;1960258;1960260;1960262;1960264;1960266;1960268;1960270;1960272;1960274;1960276;1960278;1960280;1960282;1960284;1960286;1960288;1960290;1960292;1960294;1960296;1960298;1960300;1960302;1960304;1960306;1960308;1960310;1960312;1960314;1960316;1960318;1960320;1960322;1960324;1960326;1960328;1960330;1960332;1960334;1960336;1960338;1960340;1960342;1960344;1960346;1960348;1960350;1960352;1960354;1960356;1960358;1960360;1960362;1960364;1960366;1960368;1960370;1960372;1960374;1960376;1960378;1960380;1960382;1960384;1960386;1960388;1960390;1960392;1960394;1960396;1960398;1960400;1960402;1960404;1960406;1960408;1960410;1960412;1960414;1960416;1960418;1960420;1960422;1960424;1960426;1960428;1960430;1960432;1960434;1960436;1960438;1960440;1960442;1960444;1960446;1960448;1960450;1960452;1960454;1960456;1960458;1960460;1960462;1960464;1960466;1960468;1960470;1960472;1960474;1960476;1960478;1960480;1960482;1960484;1960486;1960488;1960490;1960492;1960494;1960496;1960498;1960500;1960502;1960504;1960506;1960508;1960510;1960512;1960514;1960516;1960518;1960520;1960522;1960524;1960526;1960528;1960530;1960532;1960534;1960536;1960538;1960540;1960542;1960544;1960546;1960548;1960550;1960552;1960554;1960556;1960558;1960560;1960562;1960564;1960566;1960568;1960570;1960572;1960574;1960576;1960578;1960580;1960582;1960584;1960586;1960588;1960590;2122655;2125884;2138765;2146217;2153131;2160140;2176172;2189375;2213248;2213250;2213252;2213254;2213256;2213258;2213260;2213262;2213264;2213266;2213268;2213270;2213272;2213274;2213276;2213278;2213280;2213282;2213284;2213286;2213288;2213290;2213292;2213294;2213296;2213298;2213300;2213302;2213304;2213306;2213308;2213310;2213312;2213314;2213316;2213318;2213320;2213322;2213324;2213326;2213328;2213330;2213332;2213334;2213336;2213338;2213340;2213342;2213344;5022651;5094108 AL032609;D11S2921;DXS7265;DXS7333;DXS7505;DXS7628;ECD00137;ECD01009;ECD01179;ECD03797;ECD04631;ECD05053;ECD05514;ECD06363;ECD06886;ECD07115;ECD08726;ECD08874;ECD09302;ECD10079;ECD10080;ECD10488;ECD11011;ECD11268;ECD11366;ECD12002;ECD12157;ECD13926;ECD13927;ECD14051;ECD14434;ECD15333;ECD16094;ECD16122;ECD16153;ECD16270;ECD16548;ECD16601;ECD16883;ECD17062;ECD17694;ECD17974;ECD18407;ECD18690;ECD19073;ECD19244;ECD20035;ECD20231;ECD20265;ECD20576;ECD20577;ECD21759;ECD22246;ECD22328;ECD22420;ECD22588;ECD22992;ECD23308;ECD23880;ECD23958;ECD23992;ECD24034;ECD24133;ECD24158;ECD24288;G54550;G65743;MARC_3228-3229:991936926:1;REN50830;REN50831;REN50832;REN50833;REN50834;REN50835;REN50836;REN50837;REN50838;REN50839;REN50840;REN50841;REN50842;REN50844;REN50845;REN50846;REN50847;REN50848;REN50849;REN50850;REN50851;REN50852;REN50853;REN50854;REN50855;REN50856;REN50857;REN50858;REN50859;REN50860;REN50861;REN50862;REN50863;REN50864;REN50865;REN50866;REN50867;REN50868;REN50869;REN50870;REN50871;REN50872;REN50873;REN50874;REN50875;REN50876;REN50877;REN50878;REN50879;REN50880;REN50881;REN50882;REN50883;REN50884;REN50885;REN50886;REN50887;REN50888;REN50889;REN50890;REN50891;REN50892;REN50893;REN50894;REN50895;REN50896;REN50897;REN50898;REN50899;REN50900;REN50901;REN50902;REN50903;REN50904;REN50905;REN50906;REN50907;REN50908;REN50909;REN50910;REN50911;REN50912;REN50913;REN50914;REN50915;REN50916;REN50917;REN50918;REN50919;REN50920;REN50921;REN50922;REN50923;REN50924;REN50925;REN50926;REN50927;REN50928;REN50929;REN50930;REN50931;REN50932;REN50933;REN50934;REN50935;REN50936;REN50937;REN50938;REN50939;REN50940;REN50941;REN50942;REN50943;REN50944;REN50945;REN50946;REN50947;REN50948;REN50949;REN50950;REN50951;REN50952;REN50953;REN50954;REN50955;REN50956;REN50957;REN50958;REN50959;REN50960;REN50961;REN50962;REN50963;REN50964;REN50965;REN50966;REN50967;REN50968;REN50969;REN50970;REN50971;REN50972;REN50973;REN50974;REN50975;REN50976;REN50977;REN50978;REN50979;REN50980;REN50981;REN50982;REN50983;REN50984;REN50985;REN50986;REN50987;REN50988;REN50989;REN50990;REN50991;REN50992;REN50993;REN50994;REN50995;REN50996;REN50997;REN50998;REN50999;REN51000;REN51001;REN51002;REN51003;REN51004;REN51005;REN51006;REN51007;REN51008;REN51009;REN51010;REN51011;REN51012;REN51013;REN51014;REN51015;REN51016;REN51017;REN51018;REN51019;REN51020;REN51021;REN51022;REN51023;REN51024;REN51025;REN51026;REN51027;REN51028;REN51029;REN51030;REN51031;REN51032;REN51033;REN51034;REN51035;REN51036;REN51037;REN51038;REN51039;REN51040;REN51041;REN51042;REN51043;REN51044;REN51045;REN51046;REN51047;REN51048;REN51049;REN51050;REN51051;REN51052;REN51053;REN51054;REN51055;REN51056;REN51057;REN51058;REN51059;REN51060;REN51061;REN51062;REN51063;REN51064;REN51065;REN51066;REN51067;REN51068;REN51069;REN51070;REN51071;REN51072;REN51073;REN51074;REN51075;REN51076;REN51077;REN51078;REN51079;REN51080;REN51081;REN51082;REN51083;REN51084;REN51085;REN51086;REN51087;REN51088;REN51089;REN51090;REN51091;REN51092;REN51093;REN51094;REN51095;REN51096;REN51097;REN51098;REN51099;REN51100;REN51101;REN51102;REN51103;REN51104;REN51105;REN51106;REN51107;REN51108;REN51109;REN51110;REN51111;REN51112;REN51113;REN51114;REN51115;REN51116;REN51117;REN51118;REN51119;REN51120;REN51121;REN51122;REN51123;REN51124;REN51125;REN51126;REN51127;REN51128;REN51129;REN51130;REN51131;REN51132;REN51133;REN51134;REN51135;REN51136;REN51137;REN51138;REN51139;REN51140;REN51141;REN51142;REN51143;REN51144;REN51145;REN51146;REN51147;REN51148;REN51149;REN51150;REN51151;REN51152;REN51153;REN51154;REN51155;REN51156;REN51157;REN51158;REN51159;REN51160;REN51161;REN51162;REN51163;REN51164;REN51165;RH16331;RH45451;SGC34672;STS-N52168;stSG633368;stSG633369;stSG633370;stSG633371;stSG633372;stSG633373;stSG633374;stSG633375;stSG633376;stSG633377;stSG633379;stSG633380;stSG633381;stSG633382;stSG633383;stSG633384;stSG633385;stSG633386;stSG633387;stSG633388;stSG633389;stSG633390;stSG633391;stSG633392;stSG633393;stSG633394;stSG633395;stSG633396;stSG633397;stSG633400;stSG633401;stSG633402;stSG633403;stSG633404;stSG633405;stSG633406;stSG633407;stSG633408;stSG633409;stSG633410;stSG633411;stSG633412;stSG633413;stSG633414;stSG633415;stSG633416;stSG633417;stSG633418;stSG633419 CXorf3;THO2;dJ506G2.1;hTREX120 OTTHUMP00000023972;OTTHUMP00000215584;THO complex subunit 2 APPROVED protein-coding ENSG00000125676 HGNC:19073 02317 300395 REVIEWED 1349222 THOC5 THO complex 5 ENCODES a protein that exhibits mRNA binding (inferred); INVOLVED IN monocyte differentiation; mRNA export from nucleus; negative regulation of DNA damage checkpoint; ASSOCIATED WITH Breast Neoplasms; Anemia (ortholog); Leukopenia (ortholog); FOUND IN nucleus; THO complex; THO complex part of transcription export complex; INTERACTS WITH 2-methylcholine; atrazine; coumestrol 22 22 22 q12.2 13703995 13749471 - 29904156 29949749 - 29508167 29553760 - 2317225;2317224;6480464 16959974;20051105 10231032;10597251;11979277;12477932;14702039;15146197;15221008;15461802;15489334;15833825;15998806;16009131;17081983;17190602;18029348;18373705;18974867;19015024;19059247;19165146;20009918;21937706;22113938;22365833;22939629;22990118;23032722;23222130;23685434;24023261;24457600;24816145;8125298;8242058;8889548 8563 C9JCL9;C9JXG5;C9JXU6;F5GZF3;F8WCP5;F8WES8;H7C072;H7C441;Q13769 AB023200;ABBA01055265;ABBA01055266;AC005529;AJ006069;AK025385;AK098709;AK122673;AK225169;AK225752;AMYH02038201;AMYH02038202;BC003615;BQ184247;BU187531;BX381026;BX400943;BX404329;CH471095;CN387648;CR456542;L18972;NM_001002877;NM_001002878;NM_001002879;NM_003678;XM_005261797;XM_005261798;XM_005261799;XM_005261800;XM_005261801;XM_006724347;XR_244394;XR_430413 AAC26837;AAH03615;BAA76827;CAA06841;CAG30428;CAK54573;CAK54872;EAW59808;EAW59811;EAW59812;NP_001002877;NP_001002878;NP_001002879;NP_003669;Q13769;XP_005261854;XP_005261855;XP_005261856;XP_005261857;XP_005261858;XP_006724410 Hs.75361 1664220;1689654;1733258;2125516;2182348;2191091;5014051;5022200;5037552 D22S634;D8S2278;D8S2279;L18426;MARC_14497-14498:1010607893:1;RH17626;RH178;SHGC-30081;WI-15873 C22orf19;Fmip;PK1.3;PP39.2;fSAP79;hTREX90 Fms-interacting protein;NF2/meningioma region protein pK1.3;OTTHUMP00000199690;OTTHUMP00000199692;THO complex subunit 5 homolog;functional spliceosome-associated protein 79;placental protein 39.2 protein-coding ENSG00000100296 HGNC:19074 16650 612733 VALIDATED 1601739 THOC6 THO complex 6 homolog (Drosophila) ENCODES a protein that exhibits RNA binding (inferred); INVOLVED IN central nervous system development; mRNA export from nucleus; negative regulation of apoptotic process; ASSOCIATED WITH Autosomal recessive inheritance (inferred); BEAULIEU-BOYCOTT-INNES SYNDROME (inferred); Blepharophimosis (inferred); FOUND IN nucleus; THO complex; THO complex part of transcription export complex; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; copper(2+) sulfate 16 16 16 p13.3 3279588 3283311 + 3074032 3077756 + 3024031 3027755 + 6480464;7240710;8554872;8699517 12477932;15489334;15833825;15998806;17190602;17623298;18974867;18976975;19322201;19773279;19913121;20628086;21139048;21890473;21906983;22174317;22678362;22939629;24332808;24457600;24550385;25027693 79228 Q86W42 ABBA01026726;AC108134;AK075330;AK308960;AK310113;AK314086;AL832548;AMYH02031280;BC003118;BC050674;BG613317;BM457458;CH471112;NM_001142350;NM_024339;XM_006720946 AAH03118;AAH50674;BAC11552;BAG36782;EAW85421;EAW85422;EAW85423;NP_001135822;NP_077315;Q86W42;XP_006721009 Hs.412304 2109379;2117908;2129131;2142712 HCFC1R1_8058;RH41886;RH67838;STS-T56712 BBIS;MGC2655;WDR58;fSAP35 THO complex subunit 6 homolog;WD repeat domain 58;WD repeat-containing protein 58;functional spliceosome-associated protein 35 protein-coding ENSG00000131652 HGNC:28369 14504 613680;615403 VALIDATED 1602206 THOC7 THO complex 7 homolog (Drosophila) ENCODES a protein that exhibits RNA binding (inferred); INVOLVED IN mRNA export from nucleus; viral mRNA export from host cell nucleus; FOUND IN cytoplasm; nucleus; THO complex; INTERACTS WITH atrazine; copper(2+) sulfate; paracetamol 3 3 3 p14.1 63836307 63866361 - 63819546 63849597 - 63833870 63864396 - 6480464 12477932;12584197;12951069;15833825;15998806;16169070;17190602;17207965;18029348;18974867;19059247;20379614;21139048;21890473;21963094;21988832;22505724;22939629;23000965;23222130;24332808;8125298;9921901 80145 F8WCA6;F8WF22;H7C5E3;Q6I9Y2 ABBA01024315;AC104162;AF104914;AI391685;AI784549;AK027098;AK225110;AMYH02006949;BC020599;BC065012;BI914906;CH471055;CR457373;HY023143;NM_001285387;NM_001285404;NM_025075;XM_006713339 AAH20599;AAH65012;ADQ32597;BAB15656;CAG33654;EAW65418;EAW65419;EAW65420;EAW65421;NP_001272316;NP_001272333;NP_079351;Q6I9Y2;XP_006713402 Hs.288151 1653081;1848744;1848746 A005L33;G20315;SHGC-77029 FLJ23445;NIF3L1BP1;fSAP24;hTREX30 NIF3L1-binding protein 1;Ngg1 interacting factor 3 like 1 binding protein 1;OTTHUMP00000213415;THO complex subunit 7 homolog;functional spliceosome-associated protein 24;ngg1-interacting factor 3-like protein 1-binding protein 1 protein-coding ENSG00000163634 HGNC:29874 17632 611965 VALIDATED 6481316 THOC7-AS1 THOC7 antisense RNA 1 3 63860645 63861819 + 100874039 ABBA01024315;AC104162;AMYH02006949;NR_104326 APPROVED ncrna ENSG00000240549 HGNC:41249 VALIDATED 1351706 THPO thrombopoietin Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5' UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified, and these upstream AUGs inhibit translation of the main ORF at different extent. [provided by RefSeq, Feb 2014] 3 3 3 q27 182530743 182536902 - 184089773 184097368 - 184371985 184379625 - 730050;1580082;1580083;1580086;1580087;1580088;1580089;1580090;1580091;1580092;1601655;1601656;1580863;6480464;7240710;8699517;8554872 10583217;10822072;11776309;11860444;11960394;12041668;12187073;12468916;12487786;9425899;9694695;9794189 10387974;10477724;11012214;11257273;11750880;11756417;11847009;11877062;11913997;11961237;11983110;12135673;12359731;12381927;12389630;12430879;12477932;12495897;12581491;12799278;12799280;12829024;12879435;14670916;14689068;14769915;14966463;14995067;15239259;15254242;15282677;15307100;15572213;15647951;15705785;15781331;15863506;16305336;16317100;16359773;16454716;16759877;16888093;17158158;17379761;17468237;17637498;17706203;17763151;17827152;18006466;18061247;18090929;18367486;18433726;18473128;18617523;18753991;19553636;19578796;19630807;19810087;19913121;20139978;20237496;20452482;20467749;20628086;20673868;21262827;21304100;21988832;22139419;22194398;22284746;22327824;22453305;22577249;22686250;22698803;22980223;23403320;24085763;7809166;7822271;7849319;7926023;8020099;8202154;8202159;8202160;8537317;8942648;9111044;9631256;9766811;9834204 7066 F8W6L1;P40225;Q5FBX8 AA479058;AA480029;AB000528;AB014681;AB014682;AB014683;AB102890;AB102892;AB102894;ABBA01058445;AC078797;AK311002;AMYH02008305;BC130322;BC136338;BC143982;BX108191;CH471052;D32046;D32047;L33410;L36051;L36052;NG_012136;NM_000460;NM_001177597;NM_001177598;NM_001289997;NM_001289998;NM_001290003;NM_001290022;NM_001290026;NM_001290027;NM_001290028;S76771;U11025;U17071;U42977;U59493;U59494;U59495;XM_005247737;XM_006713738;XM_006713739 AAA50553;AAA59857;AAA74083;AAB03392;AAB03393;AAB03394;AAB33390;AAC37566;AAC37568;AAI30323;AAI36339;AAI43983;BAA06807;BAA21930;BAA34930;BAA34931;BAA34932;BAD89419;BAD89421;BAD89423;EAW78243;EAW78244;EAW78245;NP_000451;NP_001171068;NP_001171069;NP_001276926;NP_001276927;NP_001276932;NP_001276951;NP_001276955;NP_001276956;NP_001276957;P40225;XP_005247794;XP_006713801;XP_006713802 Hs.1166;Hs.734657 1722403;1773047;1796940 D3S4165;G60274;THPO_1099 MGC163194;MGDF;MKCSF;ML;MPLLG;THCYT1;TPO MPL ligand;OTTHUMP00000210502;OTTHUMP00000210503;OTTHUMP00000210504;c-mpl ligand;megakaryocyte colony-stimulating factor;megakaryocyte growth and development factor;megakaryocyte stimulating factor;myeloproliferative leukemia virus oncogene ligand;prepro-thrombopoietin;thrombopoietin nirs variant 1 APPROVED protein-coding ENSG00000090534 HGNC:11795 02500 187950;600044 REVIEWED 68460 THOP1 thimet oligopeptidase 1 ENCODES a protein that exhibits metal ion binding (inferred); metalloendopeptidase activity (inferred); peptide binding (inferred); INVOLVED IN intracellular signal transduction (inferred); peptide metabolic process (inferred); proteolysis (inferred); PARTICIPATES IN renin-angiotensin cascade pathway; Trypanosoma brucei infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH cobalt dichloride; copper atom; copper(0) 19 19 19 p13.3 2721390 2749643 + 2785464 2813599 + 2785508 2813601 + 1580863;6480464;6907045;8554872 10415366;10504294;10541437;10969067;10993116;11479311;12477932;12502762;12648459;14702039;14998993;15057824;15231747;15328361;15376229;15489334;17251185;18571100;19282285;19614740;21139048;21151101;21890473;21906983;21963094;22053931;22796113;22863883;22939629;23708739;24223886;24250222;24654937;24816145;7639763;8286339;8373360;8824811;9790774 7064 K7EIK4;K7EKB6;K7EL02;K7EL32;K7EMU4;K7EP46;P52888 ABBA01002769;AC006538;AK093392;AK300552;AMYH02035217;BC000135;BC000583;BC002391;BC013878;BC067281;CH471139;HB965591;HD023001;NM_003249;U29366;Z50115 AAA82607;AAD13118;AAH00135;AAH00583;AAH02391;AAH13878;ABW03685;BAG52704;BAG62258;CAA90477;CBG17384;CBV30826;EAW69364;EAW69365;NP_003240;P52888 Hs.78769 2171687 WI-14088 EP24.15;MEPD_HUMAN;MP78;TOP endopeptidase 24.15;thimet oligopeptidase protein-coding HGNC:11793 03072 601117 PROVISIONAL 1314565 THRAP3 thyroid hormone receptor associated protein 3 ENCODES a protein that exhibits phosphoprotein binding; poly(A) RNA binding; receptor activity; INVOLVED IN androgen receptor signaling pathway; intracellular steroid hormone receptor signaling pathway; mRNA stabilization; ASSOCIATED WITH Melanoma (inferred); FOUND IN exon-exon junction complex; mediator complex; nucleus; INTERACTS WITH all-trans-retinoic acid; crocidolite asbestos; hydralazine 1 1 1 p34.3 34964545 35046052 + 36690017 36770958 + 36224416 36305357 + 1580863;6480464;8554872 10198638;10235266;10235267;11827452;11867769;12037571;12130544;12218053;12477932;12938929;14559993;15144186;15174051;15302935;15324660;15489334;16055720;16196087;16204234;16565220;16710414;16964243;17081983;17353931;17403666;17620599;18029348;18596238;18781797;18794151;19471022;19596686;19928837;20016921;20360068;20811636;21139048;21145461;21182205;21693764;21890473;21906983;22113938;22190034;22412018;22424773;22939629;22944692;22990118;23000965;23084401;23184937;23398456;23455922;23525231;23602568;23752268;23778535;23825951;24055347;24337577;24457600;24550385;24639526;24778252;24816145;24984263;25027693;8710870;9653119 9967 E9PML1;Q9Y2W1 ABBA01023303;ABBA01023304;ABBA01023305;ABBA01023306;ABBA01023307;ABBA01023308;AC114484;AF117756;AI754117;AK025735;AL360074;AL591845;AMYH02000781;AMYH02000782;BC002501;BC010997;BC019076;BC037554;BC054046;BC065519;BC112330;BC112350;BG572651;CH471059;FB342987;FB711110;NM_005119;XM_005271371;XR_246308 AAD22034;AAH02501;AAH10997;AAH19076;AAH37554;AAH54046;AAH65519;AAI12331;AAI12351;ABZ92284;CAR81494;CAS91510;EAX07379;EAX07380;NP_005110;Q9Y2W1;XP_005271428 Hs.744057 1657811;1666584;1672452;1761611;2172127;2184407;2190871;5115407 MARC_10111-10112:996678899:1;RH16411;RH36506;RH68220;SHGC-145602;SHGC-74577;SHGC-74589;SHGC-74597 FLJ22082;MGC133082;MGC133083;TRAP150 OTTHUMP00000009597;OTTHUMP00000230679;thyroid hormone receptor-associated protein 3;thyroid hormone receptor-associated protein complex 150 kDa component;thyroid hormone receptor-associated protein, 150 kDa subunit protein-coding ENSG00000054118 HGNC:22964 07543 603809 VALIDATED 736295 THRA thyroid hormone receptor, alpha The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 34878512 34910230 + 38218446 38250120 + 40062193 40093867 + 1580113;1580114;1580116;1580863;2315096;2314321;2315097;6480464;8699517;7240710;8554872 10022432;11756220;11889175;12082618;17389455;6589608 10037764;10198638;10207062;10235266;10379889;10409738;10480874;10490654;10508171;10567404;10610177;10691735;10733574;10744685;10847592;10866662;10877839;10902817;10903152;10965896;11117530;11158331;11266503;11641275;11713274;11726557;11861164;11889044;12048199;12138181;12231529;12371907;12388540;12477932;12805224;12871948;12874288;12878587;1307263;1314167;1331778;14576168;14614212;14729678;15130509;15131262;15140878;1517709;15249124;1537303;15388935;15466465;15489334;15604093;15674337;15757863;15767343;15802373;15808511;15941852;16219912;16595702;16781732;16799563;17065567;17220280;17242407;17560756;17577579;17620012;17641689;17911173;18052923;18467449;1850510;18562675;18641393;18655026;18844476;19144825;19158403;19360007;19422879;19427062;19453261;19519176;19628582;19730683;19819978;19853653;19903799;19926848;20053725;20141582;20211142;20231357;20534741;20691434;20724312;20736347;21075170;21389087;21508093;21529443;21622534;21654857;21738480;21868449;21988832;21997736;22224817;22930759;23271024;23300972;23399772;23633213;23940126;24250222;24325866;24480136;2464749;2539258;2710139;2879242;2879243;3357890;3458521;3672126;3684612;6323162;7566114;7566127;7609079;7776974;8036737;8127707;8524305;8537364;8616895;8650544;8710870;8806651;9115274;9256431;9267036;9268132;9405624;9415406;9440806;9626662;9627117;9628876;9653119;9680361;9717844;9804773;9849963 7067 J3KTF3;J3QR26;J3QRA9;J3QRW5;P10827;Q6FH41 AB209346;AB307686;ABBA01031845;ABBA01031846;ABBA01031847;AC068669;AC102799;AF522368;AK290071;AK290530;AK311344;AMYH02033391;AMYH02033392;BC000261;BC002728;BC008851;BC035137;BQ224043;CH471152;CR541915;HQ692859;J03239;M24748;M24899;M24900;NG_023345;NM_001190918;NM_001190919;NM_003250;NM_199334;X55005;X55074;Y00479 AAA35783;AAA52333;AAA52334;AAA61176;AAA66021;AAH00261;AAH02728;AAH08851;AAH35137;AAM77692;ABM83438;ABM86652;ADZ17370;BAD92583;BAF82760;BAF83219;BAH02277;CAA38749;CAA38899;CAA68539;CAB57886;CAG46713;EAW60632;EAW60633;EAW60634;NP_001177847;NP_001177848;NP_003241;NP_955366;P10827 Hs.724 1730331;1741385;1742293;1780412;1783582;1783600;1794882;1797912;1798274;2117650;2130568;2137191;2160791;2180246;2191537;2191711;5016614;5492170;5494073 AW259572;D10S2160;D17S1644E;D17S1979;D17S2189;GDB:180966;GDB:188665;GDB:196130;MARC_26124-26125:1030369359:1;MARC_5497-5498:996690469:1;NR1D1_2626;PMC64989P2;PMC87157P2;RH110;RH125185;SHGC-155386;SHGC-156300;THRA;THRA_2263 AR7;CHNG6;EAR-7;EAR7;ERB-T-1;ERBA;ERBA1;MGC000261;MGC43240;NR1A1;THRA1;THRA2;c-ERBA-1;c-erbA-alpha ERBA-related 7;OTTHUMP00000164469;OTTHUMP00000164470;V-erbA-related protein 7;avian erythroblastic leukemia viral (v-erb-a) oncogene homolog;nuclear receptor subfamily 1 group A member 1;thyroid hormone receptor alpha;thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian);thyroid normone nuclear receptor alpha variant 1;triiodothyronine receptor APPROVED protein-coding ENSG00000126351 HGNC:11796 07185 190120;614450 REVIEWED 2881505 THRAP3P1 thyroid hormone receptor associated protein 3 pseudogene 1 3 3 3 p24.1 31431540 31434591 + 31494332 31497383 + 31452840 31455891 + 20041166 391524 ABBA01024955;AC099540;AC115283;AMYH02006483;NG_021114 1657811;1765959;2125493;2184407 RH36506;SHGC-149354;SHGC-74597;SHGC-76795 THRAP3L pseudo HGNC:32386 INFERRED 7174939 THRB-AS1 THRB antisense RNA 1 3 3 3 p24.2 24471155 24477265 + 24535356 24541502 + 24494087 24500011 + 644990 ABBA01025027;ABBA01025028;AC012087;AK130231;AMYH02006411;NR_046244 Hs.631912 1668438 FB21H8 ncrna HGNC:44515 VALIDATED 6481105 THRB-IT1 THRB intronic transcript 1 (non-protein coding) 100874274 AC112217 ncrna HGNC:41390 7779641 THRIL TNF and HNRNPL related immunoregulatory long non-coding RNA q24.31 24371310 102659353 AC122688;AK025766;NR_110375 Hs.596464 BRI3BP-AS1;BRI3BPAS1;Linc1992;TCONS_00020260 ncrna HGNC:49503 615622 VALIDATED 734265 THRSP thyroid hormone responsive The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq, Jul 2008] 11 11 11 q14.1 75083371 75087862 + 77774907 77779403 + 78063861 78068357 + 1580863;6480464 12477932;12960053;15342556;15489334;16712791;17418816;18029348;18299245;19913121;20628086;21821901;9003802;9027365;9186528;9371405;9389499;9618526;9777755 7069 Q92748 ABBA01017414;AI480357;AI749106;AK311975;AMYH02025145;AP003032;BC031989;BG674197;BP317892;CB122257;CH471076;NM_003251;Y08409 AAH31989;ABZ92543;BAG34914;CAA69685;EAW75045;NP_003242;Q92748 Hs.591969 1719707;1782582;1793508;1793510;1846785;2145248;2160650;5017621 D11S2232E;D11S4683;PMC22712P1;PMC22712P2;RH12275;RH123542;SHGC-112422;THRSP LPGP1;Lpgp;MGC21659;S14;SPOT14;THRP OTTHUMP00000233866;SPOT14 homolog;lipogenic protein 1;spot 14 protein;thyroid hormone responsive (SPOT14 homolog, rat);thyroid hormone responsive SPOT14;thyroid hormone responsive protein;thyroid hormone-inducible hepatic protein APPROVED protein-coding ENSG00000151365 HGNC:11800 03566 601926 REVIEWED 1315930 THSD1 thrombospondin, type I, domain containing 1 The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009] 13 13 13 q14.3 34016568 34045895 + 52934506 52980629 - 52377167 52406494 - 1580863;6480464;8554872 12477932;12975309;14702039;15057823;15371459;15489334;17047544;18029348;18403638;22664866;7687569 55901 B3KTY7;Q9NS62 AB044385;ABBA01006539;ABBA01006540;AK096289;AK298974;AK315087;AL359513;AMYH02028044;AMYH02028045;AY358149;BC063842;CA446845;CH471274;NM_018676;NM_199263 AAH63842;AAQ88516;BAA96553;BAG37552;BAG53249;BAG61068;EAW55891;EAW55892;EAW55893;EAW55894;EAW55896;NP_061146;NP_954872;Q9NS62 Hs.325667 1656615;5015881;5016478;5022200;5037552 D8S2279;GDB:335751;GDB:434012;L18426;RH66294 MGC74971;TMTSP;UNQ3010 4833423O18Rik;OTTHUMP00000018448;OTTHUMP00000178678;thrombospondin type-1 domain-containing protein 1;thrombospondin, type I, domain 1;transmembrane molecule with thrombospondin module APPROVED protein-coding ENSG00000136114 HGNC:17754 18180 REVIEWED 734423 THRB thyroid hormone receptor, beta The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p24.2 24094249 24472076 - 24158644 24536772 - 24117153 24495281 - 1601659;1580863;2314321;2315095;2315096;2289906;2315099;2315100;2315097;2315977;6480464;7240710;8554872;8699517 11483913;11756220;12082618;15913586;17389455;18336598;20082849;2573734;9462708 10207062;10454563;10454579;10508170;10508171;10567404;10625678;10660344;10713182;10737800;10786636;10809664;10822129;10823961;10866662;10944117;11050077;11158331;11258898;11279242;11353774;11518802;11733490;11739747;11751919;11773444;11818500;11861164;11889175;11929097;11971969;12006711;12039952;12048199;12382103;12477932;12554782;12668276;12788902;12799135;12843201;1314846;1324420;1425440;14673100;14684607;14702039;14761960;14767065;14985366;15080770;15100213;15105435;1517709;15186611;15249124;15308690;15319359;15336696;15342556;15466465;15489334;15598685;15604093;15625236;1563081;15674337;15867011;1587388;15886199;15987841;16099238;1618799;1619012;16231318;16344560;16464943;1648451;1653889;1657975;16595702;1661299;16778766;16781732;17177139;17242407;17260956;17293442;17418816;17455211;17560756;17596672;17827792;17911173;18239067;18363280;1846005;18467449;18514160;18561095;18660489;18683837;18798561;18844476;19000767;19160403;19211732;19268523;19299458;19378427;19407221;19422879;19439650;19453261;19524130;19628582;1973914;19853653;19903799;19903885;19913121;19926848;20004952;20139978;20141582;20155399;20379614;20444926;20470753;20628086;20634891;20677014;20691260;20691434;20716560;20736347;20827662;20838640;20956942;21110296;21159845;21323586;21389087;21402532;21508093;21530542;2153155;21622532;21622534;21703645;21740842;21795843;21871106;21988832;21994129;22212731;22253701;22319036;2254444;22551329;22560525;22930759;22974658;23136537;23183175;23195042;23222517;23271024;23300972;23416078;23558175;23629656;23736295;23922917;23975195;24036060;24058409;24058526;24121026;24136366;24217081;24325866;24434154;2510172;2550353;2879243;3034496;7566114;7746322;7776974;7833659;7870181;8040303;8175986;8381821;8514853;8664910;8889584;9162076;9171239;9267036;9325263;9346901;9368056;9405624;9415406;9582446;9717844;9751500;9765220;9794455;9795230;9878542;9920895 7068 C9JHC2;C9JJM3;C9JNQ4;C9JTN1;C9JZS5;F1D8N7;J3KR21;P10828 AB307687;ABBA01025028;ABBA01025029;ABBA01025030;ABBA01025031;ABBA01025032;AC012087;AC093927;AC098971;AC099054;AC112217;AI003028;AK095776;AK096628;AK096885;AK098084;AK124042;AMYH02006408;AMYH02006409;AMYH02006410;AMYH02006411;AV747599;AW449568;AY286465;AY286466;AY286467;AY286468;AY286469;AY286470;AY286471;BC028910;BC106929;BC106930;BF854291;BP313943;BQ879477;BX489919;CH471055;DA218319;GQ456948;GQ456949;GQ869477;GQ869479;GQ919288;HQ692825;M26747;NG_009159;NM_000461;NM_001128176;NM_001128177;NM_001252634;X04707;X74497;XM_005265420;XM_005265421;XM_005265423;XM_005265424;XM_005265425;XM_006713317;XM_006713318 AAA35677;AAI06930;AAI06931;AAQ23704;AAQ23705;AAQ23706;AAQ23707;AAQ23708;AAQ23709;AAQ23710;ABZ92193;ADK27482;ADZ17336;BAG53341;BAH02278;CAA28412;CAA52606;EAW64345;EAW64346;EAW64347;EAW64348;EAW64349;EAW64350;NP_000452;NP_001121648;NP_001121649;NP_001239563;P10828;XP_005265477;XP_005265478;XP_005265480;XP_005265481;XP_005265482;XP_006713380;XP_006713381 Hs.187861 1661436;1663954;1664505;1668438;1705316;1712669;1713173;1713519;1717757;1741303;1741305;1741307;1741311;1741467;1741817;1742481;1768854;2118715;2127167;2167279;2171635;2178688;2184184;2218092;5015961 D15S1477;FB21H8;G16616;GDB:180388;GDB:180393;GDB:180395;GDB:180402;GDB:181230;GDB:185252;GDB:197523;RH120244;RH120373;RH121786;RH121999;RH16276;RH78157;SGC34912;SHGC-76775;SHGC-76780;SHGC-76782;SHGC-76783;SHGC-78620;STS-X74497;THRB_2730;WI-18322 C-ERBA-2;C-ERBA-BETA;ERBA-BETA;ERBA2;GRTH;MGC126109;MGC126110;NR1A2;PRTH;THR1;THRB1;THRB2 OTTHUMP00000161044;OTTHUMP00000208475;OTTHUMP00000208531;avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2;nuclear receptor subfamily 1 group A member 2;oncogene ERBA2;thyroid hormone nuclear receptor beta variant 1;thyroid hormone receptor beta;thyroid hormone receptor beta 1;thyroid hormone receptor beta isoform;thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) APPROVED protein-coding ENSG00000151090 HGNC:11799 07521 145650;188570;190160;274300 REVIEWED 1351777 THSD1P1 thrombospondin, type I, domain containing 1 pseudogene 1 INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate 13 13 13 q14.3 33790491 33817246 - 52741854 52742456 - 52167719 52168321 - 6480464 374500 ABBA01051059;AL139082;AMYH02028041;NG_032770 1646812;1656615;1702606;2111692;2123730;2151435 A008Q48;D13S1607;D13S750;DXS8003;RH66294;STS-AA035456 THSD1P APPROVED pseudo HGNC:31375 INFERRED 1605622 THSD4 thrombospondin, type I, domain containing 4 ENCODES a protein that exhibits metalloendopeptidase activity (inferred); INVOLVED IN elastic fiber assembly (inferred); proteolysis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; cobalt dichloride 15 15 15 q23 48324642 48962070 + 71407935 72075722 + 71115597 71783383 + 6480464;8554872 12477932;12975309;14702039;18488137;18519826;19199708;19240061;19734141;19940141;20010834;20379614;21880733;21965014;22837378;23284291;23400010;23932459;24024966;24159190;24324551 79875 Q6ZMP0 ABBA01038741;ABBA01038742;ABBA01038743;ABBA01038744;ABBA01038745;ABBA01038746;ABBA01038747;ABBA01038748;ABBA01038749;AC015711;AC026636;AC064799;AC068181;AC104938;AC104943;AC105132;AC108861;AK000582;AK023772;AK130734;AK131551;AK299056;AK303870;AL049464;AMYH02030724;AMYH02030725;AMYH02030726;AMYH02030727;AMYH02030728;AMYH02030729;AMYH02030730;AMYH02030731;AMYH02030732;AMYH02030733;AMYH02030734;AMYH02030735;AMYH02030736;AMYH02030737;AY358143;BC008840;BC140868;BX641106;BX648716;BX648747;CH471082;NM_001286429;NM_024817;XM_006720692 AAI40869;AAQ88510;BAB14673;BAD18685;BAG61125;BAG64808;CAE46049;EAW77873;EAW77874;EAW77875;NP_001273358;NP_079093;Q6ZMP0;XP_006720755 Hs.387057 1334543;1645125;1645882;1649317;1662058;1667016;1673465;1690512;1704766;1706450;1715557;1715957;1720249;1721597;1722823;1750471;1751515;1752341;1757511;1761659;1774081;1780254;1783266;1783268;1790273;2127201;2176184;5106387;5115154;5491575 AFMA240WG1;D15S1050;D15S1241;D15S1268;G17862;G59808;G60353;KS152;MARC_21620-21621:1033068940:1;RH120920;RH122721;RH123873;RH44673;RH44717;RH46217;RH48644;RH94031;SHGC-105319;SHGC-106265;SHGC-111775;SHGC-144885;SHGC-145643;SHGC-154809;SHGC-155970;SHGC-155971;SHGC-33724;SHGC-79667;SHGC-80810;WI-14916;WI-18330 ADAMTSL-6;ADAMTSL6;FLJ13710;FVSY9334;PRO34005 A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6;ADAMTS-like protein 6;OTTHUMP00000164570;OTTHUMP00000164580;thrombospondin type-1 domain-containing protein 4 protein-coding ENSG00000187720 HGNC:25835 07835 614476 VALIDATED 1606777 THSD7B thrombospondin, type I, domain containing 7B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; paracetamol; trichostatin A 2 2 2 q22.1 131462164 132148761 + 137639718 138435287 + 136882148 137677717 + 6480464;8554872 11214970;12421765;12477932;15815621;20379614;20686608;21703634;22589738;23144319;23761726;24124411;24172245 80731 C9JKN6;E7EM75;Q9C0I4;R4GMU2 AB051466;ABBA01028136;ABBA01028137;ABBA01028138;ABBA01028139;ABBA01028140;ABBA01028141;ABBA01028142;AC010873;AC011231;AC012000;AC016679;AC017082;AC019067;AK299929;AMYH02004867;AMYH02004868;AMYH02004869;AMYH02004870;AMYH02004871;BC019344;BC033125;KF456714;NM_001080427;XM_005263802 AAH19344;AAH33125;BAB21770;BAG61762;NP_001073896;Q9C0I4;XP_005263859 Hs.68533 1336265;1338767;1687806;1696588;1704866;1707812;1724567;1724671;1752921;1757541;1761423;2116858;2167706;5020381 D2S2288;D2S2385;D2S2678;D2S2682;D2S2792;RH121338;RH122543;RH93181;SHGC-106811;SHGC-144972;SHGC-145431;SHGC-78814;SHGC-79907;SHGC-82132 KIAA1679 OTTHUMP00000204182;thrombospondin type-1 domain-containing protein 7B protein-coding ENSG00000144229 HGNC:29348 PROVISIONAL 1344933 THTPA thiamine triphosphatase This gene encodes an enzyme which catalyzes the biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of thiamine triphosphate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 14 14 14 q11.2 3887868 3891457 + 23980969 24028790 + 23511760 23559581 + 1580863;6480464;6907045;8554872 11827967;12477932;12508121;12943234;14702039;15109578;15342556;15489334;16344560;17213182;18029348;20387656;21139048;21890473;22053931;22939629;23000965;3060175;8889548 79178 G3V5B9;G3V5Q5;H0YJU8;Q9BU02 ABBA01061321;ABBA01061322;AF432862;AK057691;AK090747;AK094211;AK098604;AL132855;AL135999;AMYH02028870;BC002984;BI488427;BI522644;BI836092;BM673249;BM925597;BP358780;BQ182954;BU535676;BX161435;BX378775;CB054399;CH471078;DA218228;DA952722;DB044416;DB122722;DB257923;DT220066;HY035323;NM_001126339;NM_001256062;NM_001256321;NM_001256322;NM_001256323;NM_024328;NR_023314;NR_046051;NR_046052 AAH02984;AAM22403;BAB71546;CAD61907;EAW66140;EAW66141;NP_001119811;NP_001242991;NP_001243250;NP_001243251;NP_001243252;NP_077304;Q9BU02 Hs.655179;Hs.732304;Hs.736905 1675005;2120685;2123605;2125461;2140713;2150164;2219742;5015621 A005Y33;D11S3732;D14S671E;HSC22E052;RH44758;RH64872;SHGC-24169;THTPA__5257 FLJ33428;FLJ36892;MGC2652;RP11-66N24.4;THTP OTTHUMP00000246252;OTTHUMP00000246253;OTTHUMP00000246254;OTTHUMP00000246271;OTTHUMP00000246272;OTTHUMP00000246273;THTPASE;thiamine-triphosphatase APPROVED protein-coding ENSG00000259431 HGNC:18987 15505 611612 REVIEWED 1602056 THSD7A thrombospondin, type I, domain containing 7A The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010] 7 7 7 p21.3 11384846 11846544 - 11410062 11871824 - 11370435 11832198 - 6480464;8554872 10231032;12168954;12421765;12477932;14702039;15231748;18488137;20020485;20379614;20414141;20808825;22145905;22194972;22889924;23303384;7566098 221981 Q9UPZ6 AA297188;AA995609;AB023177;ABBA01056561;ABBA01056562;ABBA01056563;ABBA01056564;AC004141;AC004160;AC004614;AC010908;AC073109;AK001884;AK092252;AMYH02015233;AMYH02015234;AMYH02015235;AMYH02015236;AMYH02015237;AMYH02015238;AMYH02015239;BC016980;BC030083;BF111945;CH236948;KF510969;NG_027670;NM_015204;XM_006715659;XM_006715660;XM_006715661;XM_006715662 BAA76804;NP_056019;Q9UPZ6;XP_006715722;XP_006715723;XP_006715724;XP_006715725 Hs.120855 1298140;1647216;1650378;1655137;1664030;1667007;1672452;1691502;1691510;1704898;1706532;1722497;1776285;2119026;2125947;2130935;2155165;2164539;2180345;2184466;7186371 AFM217yc5;D7S1907;D7S1926;D7S513;G42148;G42152;G60172;RH16411;RH36535;RH68696;RH70094;SHGC-24260;SHGC-55960;SHGC-55964;SHGC-55965;SHGC-55969;SHGC-79924;SHGC-81239;STS-N22309;STS-R79793 KIAA0960 OTTHUMP00000201531;thrombospondin type-1 domain-containing protein 7A APPROVED protein-coding ENSG00000005108 HGNC:22207 612249 REVIEWED 2947545 THUMPD1P1 THUMP domain containing 1 pseudogene 1 21 21 21 q21.3 15456837 15458818 - 30274104 30276085 - 28901782 28903763 - 391276 ABBA01057245;AF227510;AMYH02037687;KF457185;NG_021991 1779726 SHGC-153697 pseudo HGNC:23808 INFERRED 1318865 THUMPD1 THUMP domain containing 1 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; 5-azacytidine 16 16 16 p12.3 20055205 20063419 - 20732498 20753405 - 20721163 20742084 - 6480464 10493829;12477932;14702039;15489334;17081983;21139048;21890473;21963094;22190034;22505724;22863883;22939629;24816145 55623 H3BNW0;Q6MZT3;Q9NXG2 ABBA01028285;ABBA01028286;AC004381;AK000281;AK294328;AMYH02031666;BC000448;BX640898;CH471228;NM_017736;XM_005255422;XM_005255424 AAC31666;AAH00448;BAA91050;BAG57600;CAE45945;EAW66830;EAW66831;EAW66832;NP_060206;Q9NXG2;XP_005255479;XP_005255481 Hs.700004 1678909;1680635;1786150;2106725;2118414;2184375 RH35937;RH91275;SHGC-32909;SHGC-61359;SHGC-79168;THUMPD1__5258 DKFZp686C1054 OTTHUMP00000162296;THUMP domain-containing protein 1 protein-coding ENSG00000066654 HGNC:23807 08619 VALIDATED 1315745 THUMPD2 THUMP domain containing 2 ENCODES a protein that exhibits methyltransferase activity (inferred); RNA binding (inferred); INVOLVED IN methylation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 2 2 2 p22.1 39804157 39847379 - 39963200 40006416 - 39736060 39779276 - 1580863;6480464;8554872 12063391;12477932;14702039;15489334;18957941;21906983;22939629;8125298 80745 D6W593;H0YE26;H7C5V1;Q969Z2;Q9BTF0 ABBA01075036;ABBA01075037;AC007246;AC007253;AF380576;AF380577;AF380578;AF380579;AK057801;AK093580;AK226034;AK292002;AK298178;AK301353;AK307754;AL832115;AMYH02003646;BC004163;BC013299;CH471053;DC379776;HH961786;NM_025264;NR_028102;XM_005264577;XM_005264579;XM_005264580;XM_006712106;XM_006712107 AAH04163;AAH13299;AAL18604;AAL18605;AAL18606;AAL26317;AAL26318;AAX93065;AAY14769;ACE86471;ACE87152;BAB71581;BAF84691;BAG52741;BAG60449;BAG62898;CBX51366;EAX00339;EAX00340;EAX00341;EAX00342;NP_079540;Q9BTF0;XP_005264634;XP_005264636;XP_005264637;XP_006712169;XP_006712170 Hs.468254 1726541;1750195;2122752;2122844;2154540;2183980;5015861;7185938 D10S16;D11S2268E;D2S2923;G62651;RH78734;SHGC-112290;WI-18232 C2orf8;MGC2454 OTTHUMP00000128342;SAM-dependent methyltransferase;THUMP domain-containing protein 2 protein-coding ENSG00000138050 HGNC:14890 15506 611751 VALIDATED 1348857 THUMPD3 THUMP domain containing 3 ENCODES a protein that exhibits methyltransferase activity (inferred); RNA binding (inferred); INVOLVED IN methylation (inferred); FOUND IN cytoplasm; nucleolus; INTERACTS WITH benzo[a]pyrene diol epoxide I; formaldehyde; torcetrapib 3 3 3 p25.3 9339426 9363176 + 9404660 9428475 + 9362869 9386791 + 737633;1580863;6480464 12477932 14702039;15231747;15489334;16344560;21139048;21890473;22505724;22863883;22939629;24816145 25917 C9J9V2;C9JP31;H7C0R6;H7C3J3;Q9BV44 ABBA01020411;AC018506;AC026191;AK001680;AK023263;AL080228;AL117483;AMYH02006232;AMYH02006233;AMYH02006234;BC001622;BC010421;CH471055;DA713744;NM_001114092;NM_015453;XM_005265021;XM_005265022;XM_005265023;XM_005265024;XM_006713086;XM_006713087 AAH01622;AAH10421;BAA91832;BAB14495;CAB55956;EAW63954;EAW63955;EAW63956;EAW63957;EAW63958;EAW63959;NP_001107564;NP_056268;Q9BV44;XP_005265078;XP_005265079;XP_005265080;XP_005265081;XP_006713149;XP_006713150 Hs.443081 1654539;1687281;1768223;1777896;2112632;2112754 D3S4378;D3S4444;RH65968;RH92484;SHGC-76683;SHGC-76693 DKFZp434F091 OTTHUMP00000122526;OTTHUMP00000207149;OTTHUMP00000207150;THUMP domain-containing protein 3 protein-coding ENSG00000134077 HGNC:24493 15507 VALIDATED 8662810 THUMPD3P1 THUMP domain containing 3 pseudogene 1 7 7 7 40180216 40181951 + 40192031 40193766 + 40152432 40154167 + 100419989 ABBA01058154;AC006023;AMYH02015574;CH236951;NG_026557 pseudo HGNC:50793 INFERRED 735861 THY1 Thy-1 cell surface antigen ENCODES a protein that exhibits integrin binding; GPI anchor binding (ortholog); Rho GTPase activator activity (ortholog); INVOLVED IN angiogenesis (ortholog); cytoskeleton organization (ortholog); focal adhesion assembly (ortholog); PARTICIPATES IN interleukin-4 signaling pathway; ASSOCIATED WITH Retinal Diseases (ortholog); FOUND IN apical plasma membrane; endoplasmic reticulum; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one; 2,3,7,8-tetrachlorodibenzodioxine 11 11 11 q23.3 116449333 116454924 - 119288655 119294246 - 119417945 119423536 - 1580863;5490154;6480464;6484113 18836575 10708443;10944468;11076863;11230166;11256614;11485909;11860231;12074634;12477932;12781446;1347022;1351058;14507638;14702039;14757759;15004192;15093746;15104276;15218185;15489334;15489336;15850796;15897908;16007174;16374458;16381901;16531284;16713569;17007050;17243294;17500595;17884967;17952444;18242515;18389476;18556592;18976167;19056867;19267366;19324083;19341705;19369333;19538887;19615261;19724880;19737398;19921696;20043075;20463011;20478055;20562849;21078624;21139048;21272924;21577212;21743497;22184726;22203689;22210915;22426060;22807289;22939629;22952721;23159525;23237599;23382045;23438193;23613866;24045552;24101104;24116172;24751333;2864289;2864690;2884261;3917857;6130472;7479964;7513706;7683034;8752941 7070 B0YJA4;E9PIE1;E9PIM6;E9PNQ8;J3QRJ3;P04216 AB209209;ABBA01039669;ABBA01039670;AF261093;AK057865;AK090644;AK090996;AK094374;AK314018;AL161958;AMYH02025669;AP003396;BC005175;BC037832;BC065559;BM504140;CH471065;EF445035;M11749;NM_006288;S59749 AAA61180;AAB26353;AAG13904;AAH65559;ABM85937;ABM85939;ABW03761;ACA06081;ACA06082;BAD92446;BAG36729;BAG52205;BAG52259;CAB82306;CAL37910;CAL38092;EAW67488;EAW67489;EAW67490;NP_006279;P04216 Hs.644697 1772722;1774348;1851655;2150753 RH11662;RH15909;SHGC-8027;THY1 CD90;CDw90;FLJ33325 OTTHUMP00000232162;OTTHUMP00000232164;OTTHUMP00000232167;OTTHUMP00000232168;Thy-1 T-cell antigen;thy-1 antigen;thy-1 membrane glycoprotein;thymus cell antigen 1, theta protein-coding HGNC:11801 01769;11283 188230 VALIDATED 7152200 THUMPD3-AS1 THUMPD3 antisense RNA 1 INTERACTS WITH valproic acid; benzo[a]pyrene (ortholog); phenobarbital (ortholog) 3 3 3 p25.3 9365238 9373875 - 9430537 9439174 - 9388853 9397490 - 6480464 12477932;14702039 440944 ABBA01020411;AC018506;AK093640;AK128398;AL110136;AMYH02006234;BC036698;BC052961;BC132680;DB567546;HG495454;HG495459;HG495461;HG495467;NR_027007 BAC87421 Hs.598958;Hs.730098 1685968;2112756;2132918;2163447 D3S4445;RH93837;SGC31297;SHGC-64839 RP11-58B17.1;SETD5-AS1 APPROVED ncrna ENSG00000206573 HGNC:44478 VALIDATED 1606014 THYN1 thymocyte nuclear protein 1 This gene encodes a protein that is highly conserved among vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 11 11 11 q25 131291036 131296123 - 134118172 134123289 - 134248278 134253396 - 6480464 11042152;12107411;12384300;12477932;14580360;14601557;15489334;15939300;18029348;19237743;19505873;21139048;22939629;23000965;24816145;8889548 29087 Q9P016 ABBA01031114;AF059619;AF087886;AF161493;AF182413;AK308498;AK311024;AMYH02025834;AP000859;BC006978;BC093074;BQ640137;BQ959408;BU658940;BU685681;BU934600;CH471065;NM_001037304;NM_001037305;NM_014174;NM_199297;NM_199298;XM_005271527;XM_005271528;XM_006718827 AAF29108;AAG14949;AAG43118;AAH06978;AAH93074;AAP97185;ADZ15759;EAW67828;EAW67829;EAW67830;EAW67831;EAW67832;NP_001032381;NP_001032382;NP_054893;NP_954994;NP_954995;Q9P016;XP_005271584;XP_005271585;XP_006718890 Hs.13645 1671077;1683176 RH99116;SGC32443 HSPC144;MDS012;MGC12187;MY105;THY28;THY28KD OTTHUMP00000235417;OTTHUMP00000235418;OTTHUMP00000235419;OTTHUMP00000235420;thymocyte protein thy28 APPROVED protein-coding ENSG00000151500 HGNC:29560 18183 613739 REVIEWED 1347074 TIAF1 TGFB1-induced anti-apoptotic factor 1 INVOLVED IN I-kappaB kinase/NF-kappaB signaling; negative regulation of apoptotic process; INTERACTS WITH 17beta-estradiol; bis(2-chloroethyl) sulfide; bisphenol A 17 17 17 q11.2 24259897 24261985 - 27400539 27402627 - 29073521 29075609 - 1580863;6480464 10733938;12477932;12829915;14676191;14702039;14965474;15489334;15491607;17081983;18276110;21368882;22534828;9039502;9918798 9220 O95411 ABBA01015034;AC024619;AF105277;AK054958;AK126861;AMYH02033234;BC047669;BC058075;BC131561;CH471159;NM_004740 AAD04172;AAH47669;AAH58075;AAI31562;EAW51180;NP_004731;O95411 Hs.462590;Hs.743384 1681117;1682601;1690127;1736676;2108277 D17S1502E;MYO18A__7317;RH39291;RH67783;RH68312 MAJN;MYO18A;MYSPDZ;SPR210 12 kDa TGF-beta-1-induced antiapoptotic factor;OTTHUMP00000223459;TGF-beta-1-induced antiapoptotic factor 1;molecule associated with Jak-3 N-terminal protein-coding HGNC:11803 10268 609517 VALIDATED 1345557 TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1 The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008] 10 10 10 q 115063941 115087519 - 121332977 121356541 - 119573465 119597029 - 1580863;6480464 10700014;11514562;12356730;12414941;12426321;12477932;12533540;12855701;12917321;1326761;14702039;14736875;15280467;15304326;15514971;15592455;16091628;16191398;16243297;16537914;16581801;16890199;17486099;17488725;17512901;17682065;17869012;18201561;18456862;19110540;19738201;19805546;20675271;20932473;20980400;21048981;21139048;21145461;21189287;21890473;21906983;22623428;22939629;23000965;23603827;23667531;24332808;24457600;24816145;24927121;25027693;7533298;8576255;9207209 7073 A6NKZ9;E7ETC0;E7ETJ9;Q01085;Q49AS9 AA972022;AB209260;ABBA01062894;AC012468;AK125264;AK290695;AK290984;AK291239;AK295243;AL833106;AMYH02023909;AW129760;AY633610;BC030025;BC128140;BC128141;CH471066;D64015;M96954;NG_029240;NM_001033925;NM_003252;XM_005270108;XM_005270109;XM_005270110;XM_006717959;XR_428715 AAA36384;AAH30025;AAV33303;BAA21559;BAD92497;BAF83384;BAF83673;BAF83928;BAG58235;EAW49385;EAW49386;EAW49387;EAW49388;NP_001029097;NP_003243;Q01085;XP_005270165;XP_005270166;XP_005270167;XP_006718022 Hs.501203 1661962;1677566;1680990;1708070;1749477;1796942;2164493;2189493 MARC_7529-7530:992008459:1;RH78958;RH80809;RH81093;SHGC-111198;SHGC-81431;STS-N39410;TIAL1_1101 MGC33401;TCBP;TIAR OTTHUMP00000020602;OTTHUMP00000020605;T-cluster binding protein;TIA-1 related protein;TIA-1-related nucleolysin;TIA-1-related protein;TIA1 cytotoxic granule-associated RNA-binding protein-like 1;aging-associated gene 7 protein;nucleolysin TIAR APPROVED protein-coding HGNC:11804 04563 603413 REVIEWED 1313955 TIA1 TIA1 cytotoxic granule-associated RNA binding protein The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms of this gene product has been described in the literature. [provided by RefSeq, Jul 2008] 2 2 2 p13 70287270 70326467 - 70436576 70475886 - 70209444 70248744 - 1580863;6480464;7240710;8699517 10599307;11106748;12477932;12486009;12641788;12855701;12885872;12949814;14702039;14966131;15146197;15280467;16094384;16227602;16344560;16820934;17135269;17461779;17488725;17493234;17580305;17599736;17711853;18201561;18377426;18456862;18642007;18753794;18775331;19110540;1934064;19386911;19615357;19641607;19738201;19910486;20412057;20599318;20675271;20980400;21048981;2104899;21139048;21145461;21179245;21189287;21257637;21284605;21846467;22154808;22623428;22939629;23182705;23348830;23401021;23667531;23830997;23840900;23902765;24250222;24433873;24457600;24654937;24682828;24927121;7544399;8176212;8576255 7072 C9JTN7;E5RG67;E5RGV5;F8W8I6;F8WE16;H7BY49;P31483;Q96B58 AB209211;ABBA01075530;ABBA01075531;AC016700;AK093744;AK303345;AMYH02004038;BC015944;BM146739;CH471053;CN295707;CX867570;DB136383;DR157578;M77142;NG_029967;NM_022037;NM_022173;S70114;XM_005264524;XM_005264525;XM_005264526;XM_005264527;XM_005264528;XM_005264530;XM_005264531;XM_005264532;XM_005264533;XR_244953;XR_244954;XR_244955 AAD14053;AAH15944;AAX93193;BAD92448;BAG64407;EAW99823;EAW99824;EAW99825;EAW99826;EAW99827;NP_071320;NP_071505;P31483;XP_005264581;XP_005264582;XP_005264583;XP_005264584;XP_005264585;XP_005264587;XP_005264588;XP_005264589;XP_005264590 Hs.413123 1336393;1339656;1649339;1680309;1739011;1774393;1778195;2130851;2131284;2178118;2186211;5014873;7186797 D2S1873;D2S2113;D2S303;RH47301;RH48876;RH68286;RH81041;SHGC-32459;SHGC-58269;SHGC-64100;WI-11889;WI-21718 TIA-1;WDM OTTHUMP00000160046;OTTHUMP00000160047;OTTHUMP00000204010;OTTHUMP00000204044;RNA-binding protein TIA-1;T-cell-restricted intracellular antigen-1;TIA1 cytotoxic granule-associated RNA-binding protein;cytotoxic granule-associated RNA-binding protein;nucleolysin TIA-1 isoform p40;p40-TIA-1 (containing p15-TIA-1) APPROVED protein-coding ENSG00000116001 HGNC:11802 04626 603518;604454 REVIEWED 1345903 TIAM2 T-cell lymphoma invasion and metastasis 2 This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 6 6 6 q25.2 156145600 156313154 + 155316488 155578857 + 155090289 155257723 + 1580863;6480464;8554872 10364228;10512681;11756498;11900975;12376548;12477932;12787561;15342556;15723051;17043677;18187620;19056867;20379614;21469146;21900206;24457600 26230 B3KW11;E9PKT1;E9PMZ8;F5H1M3;F5H6R0;F5H6W6;H0YGV1;H7C5V6;Q8IVF5 ABBA01025584;AF120323;AF120324;AF195656;AK123859;AK125459;AK299723;AK302860;AL122086;AL139101;AL355343;AL596202;AMYH02014785;AMYH02014786;AMYH02014787;AMYH02014788;AMYH02014789;AMYH02014790;BC022469;BC066979;BC137275;BP199501;CH471051;NM_001010927;NM_012454 AAF03902;AAF05900;AAF05901;AAH66979;AAI37276;BAC86170;BAG53973;BAH13110;BAH13824;CAB59259;EAW47692;EAW47693;NP_001010927;NP_036586;Q8IVF5 Hs.586279 1339544;1668183;1688484;1688700;1706954;1759509;1786078;1846880;1998726;2118801;2171392;5494106;7186678 A004I02;D6S1577;D6S345E;G31560;REN70275;RH1528;RH79606;RH92066;SHGC-150796;SHGC-156051;SHGC-80974;fe36g08.x1 FLJ41865;STEF;TIAM-2 OTTHUMP00000017472;OTTHUMP00000231963;OTTHUMP00000231964;OTTHUMP00000231965;OTTHUMP00000231968;OTTHUMP00000238735;OTTHUMP00000238736;SIF and TIAM1-like exchange factor;T-lymphoma invasion and metastasis-inducing protein 2 APPROVED protein-coding ENSG00000146426 HGNC:11806 05273 604709 REVIEWED 1316657 TIAM1 T-cell lymphoma invasion and metastasis 1 ENCODES a protein that exhibits Rac guanyl-nucleotide exchange factor activity; INVOLVED IN cell migration; cell-matrix adhesion; positive regulation of Rac GTPase activity; PARTICIPATES IN E-cadherin signaling pathway; ephrin - ephrin receptor bidirectional signaling axis; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cell-cell contact zone; cell-cell junction; extrinsic component of cytoplasmic side of plasma membrane; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 21 21 21 q22.11 17673700 18114602 - 32490736 32931290 - 31118418 31558977 - 1580863;6480464;6484113;8554872 10212259;10636882;10830953;10835422;10893266;11130063;11274357;11595749;11756498;12024021;12134164;12376548;12376551;12446731;12477932;12531897;12787561;12810717;14702039;14988728;15174051;15242348;15295645;15324660;15340013;15479739;15655826;15721239;15723052;15899863;16192287;16195373;16334253;17003780;17086355;17110338;17132223;17219408;17376711;17584632;17702746;17822624;17979178;18006851;18675922;18805958;18826597;18972435;19082465;19095647;19218104;19246286;19276682;19285946;19506399;19575901;19911011;19923095;20018857;20215110;20360004;20361982;20379614;20444703;20496116;20522449;20801718;20802514;20819206;20826792;21186404;21237486;21302295;21853342;21876037;22027789;22028615;22044751;22469921;22524833;22573407;23071154;23142282;23291131;23307871;23314748;23322732;23422181;23440286;23534724;23754572;23757206;23950931;24046447;24112471;24189000;24324551;24350867;24501217;24661909;24737324;25124033;7731688;7736788;7753201;8595894;8619474;9128250 7074 C9JMB5;H7C079;Q13009 AB209101;ABBA01057280;ABBA01057281;ABBA01057282;ABBA01057283;ABBA01057284;ABBA01057285;ABBA01057286;ABBA01057287;ABBA01057288;AK093621;AK124647;AMYH02037707;AMYH02037708;AMYH02037709;AMYH02037710;AMYH02037711;AMYH02037712;AP000246;AP000247;AP000248;AP000249;AP000250;AP000251;AP000563;BC117192;BC117196;BC143970;BC143980;CH471079;HI179082;KC877853;KC877857;KC877860;KC877862;KC877864;KC877865;KC877866;KC877869;KF457200;KF511376;KF511377;KF511379;KF511382;KF511383;NM_003253;U16296;U90902;X86351;XM_005261037;XM_005261038;XM_005261039;XM_005261040 AAA98443;AAI17193;AAI17197;AAI43981;BAD92338;CBX53849;EAX09895;NP_003244;Q13009;XP_005261094;XP_005261095;XP_005261096;XP_005261097 Hs.517228 1331552;1340471;1340863;1653870;1676107;1705902;1718475;1719223;1720261;1730626;1730636;1734326;1759105;1759839;1759923;1759925;1767525;1855398;1856627;2107671;2129670;2135309;2139898;2147088;2185431;2185468;5015619;5037552;5095042;5121683 D11S3114;D21S1280;D21S1681;D21S1854;D21S1862;D21S1888;D21S1909;D21S2049;D21S305;D21S310;D8S2279;G34727;HSC1YE072;NIB1194;RH122439;RH123331;RH123879;RH48581;RH68783;SHGC-150949;SHGC-170078;SHGC-170314;SHGC-170316;SHGC-30615;SHGC-51891;SHGC-6822;SHGC-81220;SHGC-87547;TIAM1;TIAM1_7227 FLJ36302;TIAM-1 OTTHUMP00000107263;T-lymphoma invasion and metastasis-inducing protein 1;human T-lymphoma invasion and metastasis inducing TIAM1 protein protein-coding ENSG00000156299 HGNC:11805 02820 600687 VALIDATED 1603893 TICAM1 toll-like receptor adaptor molecule 1 This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. [provided by RefSeq, Jan 2012] 19 19 19 p13.3 4753860 4769659 - 4815936 4831754 - 4815924 4831742 - 5685014;6480464;6907045;8699517;7240710;8554872 21235323 10066798;12471095;12477932;12539043;12609980;12692549;12721283;12761501;12855817;14517278;14519765;14530355;14556004;14739303;14960149;14982987;15064760;15142865;15251447;15276183;15474016;15611223;15767257;15814722;15940673;16052631;16115877;16153868;16306936;16323247;16964262;16968706;17982077;18442983;18450748;18571728;18756281;18810425;18987746;19028691;19423540;19543401;19656901;19734906;19795416;20047764;20200155;20306472;20331378;20375303;20406964;20418377;20438785;20452988;20588308;20639876;20855887;21048031;21148036;21212282;21324962;21536801;21695056;21697485;21792053;21809339;21903422;21906983;21931545;21988832;21998457;22043923;22095710;22105173;22152804;22205631;22337809;22474023;22561518;22870331;22948160;22964479;23056470;23365087;23673637;23723066;23824566;23962979;24129891;24311583;24577058;24672048;8619474;9110174 148022 Q8IUC6 AB086380;AB093555;AB097023;AB446484;ABBA01056040;ABBA01056041;AC027319;AF070530;AF492646;AMYH02035304;AMYH02035305;BC009860;BC035331;BC136556;BC136557;BX349282;CA308725;CQ871232;DR000002;NG_031998;NM_182919 AAC28630;AAH09860;AAI36557;AAI36558;AAO85488;BAC44839;BAC55579;BAC77376;BAG55261;CAH56797;NP_891549;Q8IUC6 Hs.29344 1769326;2131985 SGC34257;STS-R73446 IIAE6;MGC35334;MyD88-3;PRVTIRB;TICAM-1;TRIF TIR domain containing adaptor inducing interferon-beta;TIR domain-containing adapter molecule 1;TIR domain-containing adapter protein inducing IFN-beta;TIR domain-containing adaptor molecule 1;proline-rich, vinculin and TIR domain-containing protein B;putative NF-kappa-B-activating protein 502H;toll-interleukin-1 receptor domain-containing adapter protein inducing interferon beta APPROVED protein-coding ENSG00000127666 HGNC:18348 06350 607601;614850 REVIEWED 1317929 TICAM2 toll-like receptor adaptor molecule 2 TIRP is a Toll/interleukin-1 receptor (IL1R; MIM 147810) (TIR) domain-containing adaptor protein involved in Toll receptor signaling (see TLR4; MIM 603030).[supplied by OMIM, Apr 2004] 5 5 5 q23.1 110863614 110887385 - 114914339 114952142 - 115578642 115602479 - 1580863;5685014;6480464;6484113;6907045;8554872 21235323 10810093;12477932;12721283;12761501;14517278;14519765;14556004;15276183;16115877;16344560;16603631;17258210;17372010;18221795;18297073;18810425;19412184;19543401;20379614;20802145;21903422;21988832;22685567;22970235;23136947;24255114;9490301 353376 Q86XR7 AB002444;AB091054;AB097022;AB109098;AB446491;ABBA01069032;AC010226;AMYH02012005;AY232653;AY304582;BC109265;BC109266;BX956265;CA441688;CD638761;CH471086;DA092564;DA899189;DA992598;NM_021649 AAI09266;AAI09267;AAO74498;AAQ97431;BAC77375;BAC98397;BAC98399;BAG55268;EAW48960;NP_067681;Q86XR7 Hs.718838 1643912;1722603;2113796;2218826 AB055258;G60385;TIRP__5265;WI-11806 MGC129876;MGC129877;MyD88-4;TICAM-2;TIRAP3;TIRP;TRAM NF-kappa-B-activating protein 502;OTTHUMP00000207407;TIR domain-containing adapter molecule 2;TIR-containing adapter molecule-2;TRIF-related adapter molecule;TRIF-related adaptor molecule;cytoplasmic adaptor;putative NF-kappa-B-activating protein 502;toll-like receptor adaptor protein 3;toll/interleukin-1 receptor (TIR) domain-containing adapter protein;toll/interleukin-1 receptor domain-containing protein APPROVED protein-coding ENSG00000243414 HGNC:21354 16313 608321 VALIDATED 1602448 TICRR TOPBP1-interacting checkpoint and replication regulator Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010] 15 15 15 q26.1 66521348 66573839 + 90118818 90171254 + 89575587 89628023 + 6480464;8554872 12477932;15146197;20080954;20116089;20379614;20620901;21139048;21646402;21700459;21816347;21832049;21963094;22380713;23251661;23696651;23704573 90381 H0YN97;Q7Z2Z1 ABBA01053014;ABBA01053015;ABBA01053016;ABBA01053017;ABBA01053018;AC013391;AC013787;AK074727;AK123612;AK315750;AMYH02031024;AW627706;BC002881;BC033209;BX538335;CH471101;CN285632;CQ783631;DR731357;DR731358;GQ227787;NM_152259 AAH02881;AAH33209;ADC30133;BAC11165;BAG38104;BAG53921;CAD98102;CAF86784;EAX02056;NP_689472;Q7Z2Z1 Hs.441708 1684140;1697552;1794372;2107387;2112962 D15S1437E;MGC45866__7721;PMC311040P5;RH102284;RH99140 C15orf42;FLJ41618;MGC45866;SLD3 OTTHUMP00000194457;SLD3 homolog;topBP1-interacting replication-stimulating protein;topBP1-interacting, replication-stimulating protein;treslin APPROVED protein-coding ENSG00000140534 HGNC:28704 11357 613298 VALIDATED 1346429 TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 1 1 1 p34-p33 42048758 42070929 + 43766566 43788781 + 43300895 43323110 + 6480464;8554872 10051567;10430078;10474040;10949653;10995770;11865050;11866538;11920509;12115483;12477932;1312667;15340161;15489334;16344560;17549794;17724803;17728252;17786322;18593464;18675456;19060904;19167335;19236867;19880500;19913121;20164029;20227369;20346360;20467438;20628086;21982860;22103492;22235284;22342979;22421998;22623531;22939624;22987233;7596437;7655012;8125298;8547681;8889548 7075 B4DTW8;P35590 ABBA01050960;AC093420;AF217976;AK225560;AK296735;AK300399;AK300623;AK307639;AL139289;AL833389;AMYH02000897;BC038239;BM970991;CH471059;CS305264;CS322899;DB287371;EU826586;EU826587;EU826588;EU826589;EU826590;NG_030673;NM_001253357;NM_005424;R13130;S79347;X60957;XM_005271163;XM_005271164;XM_006710869 AAD14299;AAG17219;AAH38239;ACF47622;ACF47623;ACF47624;ACF47625;ACF47626;BAG59322;BAG62130;BAG62316;CAA43290;CAK49654;CAK96151;EAX07106;EAX07107;NP_001240286;NP_005415;P35590;XP_005271220;XP_005271221;XP_006710932 Hs.78824 1674547;1704252;1717007;1751211;1769702;2119353;2154376;5014051;5022200;5022578;5037552 D1S1423;D8S2278;D8S2279;L18426;RH124050;RH70264;RH70854;SHGC-105070;SHGC-11974;SHGC-83260;WI-12355 JTK14;TIE OTTHUMP00000008352;receptor tyrosine kinase;soluble TIE1 variant 1;soluble TIE1 variant 2;soluble TIE1 variant 3;soluble TIE1 variant 4;soluble TIE1 variant 5;tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1;tyrosine-protein kinase receptor Tie-1 APPROVED protein-coding ENSG00000066056 HGNC:11809 02572 600222 REVIEWED 2291818 TIFAB TRAF-interacting protein with forkhead-associated domain, family member B TIFAB associates with TIFA (MIM 609028) and inhibits TIFA-mediated activation of NF-kappa-B (NFKB1; MIM 164011) (Matsumura et al., 2004 [PubMed 15047173]).[supplied by OMIM, Mar 2009] 5 5 5 q31.1 130908347 130911878 - 134784558 134788089 - 135448868 135452399 - 6480464 11181995;14702039;15047173 497189 Q6ZNK6 AB161513;ABBA01068727;AC022092;AMYH02012255;BX119085;CH471062;NM_001099221 BAD89018;EAW62215;NP_001092691;Q6ZNK6 Hs.552091 FLJ00292 OTTHUMP00000159411;TIFA-like protein;TIFA-related protein TIFAB;TRAF-interacting protein with FHA domain-containing protein B APPROVED protein-coding HGNC:34024 612663 VALIDATED 1344912 TIGD1 tigger transposable element derived 1 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 227177093 227179540 - 233412779 233415226 - 232548069 232550516 - 1580863;6480464 12477932;14702039;15489334;15815621;21832049;24250222;8643651;8917322 200765 Q13537;Q96MW7 ABBA01002018;AC092165;AK056329;AMYH02005988;BC035143;BC063500;CH471063;NM_145702;U49973 AAB61714;AAH35143;AAH63500;AAY24104;BAB71153;EAW71006;NP_663748;Q96MW7 Hs.211823 5124307 RH69349 EEYORE;OTTHUMP00000164359;jerky homolog-like;tigger transposable element-derived protein 1 APPROVED protein-coding ENSG00000221944 HGNC:14523 18185 612972 VALIDATED 1351821 TIGD1L tigger transposable element derived 1-like p21.3 414771 AL137624 bCX111D4.7;bPG70P20.2;bQB10J12.1 protein-coding HGNC:28694 1606192 TIFA TRAF-interacting protein with forkhead-associated domain INVOLVED IN I-kappaB kinase/NF-kappaB signaling (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; formaldehyde; quercetin 4 4 4 q25 110490861 110501136 - 113196782 113207059 - 112275626 112285903 - 6480464 1179819;11798190;12477932;12566447;12761501;15047173;15492226;16189514;16643855;19322201;20332099;21139048;21890473;21906983;21963094;22505724;22566686;25015289;8889548 92610 Q96CG3 AB062110;AB097011;AB097038;ABBA01063814;AC109347;AK292900;AMYH02009932;BC008294;BC014259;BM680110;BM718895;CA772080;CH471057;NM_052864 AAH08294;AAH14259;AAY40963;ABM84607;ABM87121;BAB86902;BAC77364;BAC77391;BAF85589;EAX06273;NP_443096;Q96CG3 Hs.310640 1739181 D4S2756 MGC20791;T2BP;T6BP OTTHUMP00000219663;OTTHUMP00000219664;TIFAA;TRAF-interacting protein with FHA domain-containing protein A;TRAF-interacting protein with a forkhead-associated domain;TRAF2 binding protein;TRAF2-binding protein;TRAF6 binding protein;putative MAPK-activating protein PM14;putative NF-kappa-B-activating protein 20 protein-coding HGNC:19075 09835 609028 VALIDATED 1348664 TIGD2 tigger transposable element derived 2 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 4 4 4 q22.1 87330201 87332285 + 90032651 90036734 + 89112817 89114901 + 6480464 15342556;15815621;16712791;8643651;8889548;8917322 166815 B3KNK0;Q4W5G0;V9HWD1 ABBA01063563;AC104785;AK027653;AL833679;AMYH02009704;BP334478;BU742379;CB130942;CH471057;EU794666;NM_145715 AAY40951;ACJ13720;BAG51362;EAX06031;NP_663761;Q4W5G0 Hs.58924 1679696 RH94192 DKFZp667D1322;HEL106 OTTHUMP00000161557;epididymis luminal protein 106;tigger transposable element-derived protein 2 APPROVED protein-coding ENSG00000180346 HGNC:18333 18186 612973 REVIEWED 1313398 TIGD3 tigger transposable element derived 3 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 62448624 62451426 + 65122282 65125084 + 65354811 65357613 + 6480464 12477932;15489334;22080934;8889548 220359 Q6B0B8 ABBA01024128;AC000353;AL558462;AMYH02024956;AP000944;BC074862;BU741546;CH471076;DR002049;NM_145719 AAH74862;EAW74378;NP_663771;Q6B0B8 Hs.632121 1673598;1712124;1774397;1856918;2106729;2177744 D11S2302E;G54111;RH45882;SHGC-30608;SHGC-53496;TIGD3__5261 OTTHUMP00000231638;tigger transposable element-derived protein 3 APPROVED protein-coding ENSG00000173825 HGNC:18334 18187 REVIEWED 1314017 TIGD4 tigger transposable element derived 4 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 4 4 4 q31.3 151014497 151024869 - 153689837 153700916 - 152768685 152779764 - 1580863;6480464 12477932;14702039;15489334;17207965;20211142 201798 Q8IY51 ABBA01070127;AC106882;AK058054;AMYH02010313;BC037869;CH471056;NM_145720;XM_005262807;XM_006714131 AAH37869;ADQ32517;BAB71642;EAX04973;NP_663772;Q8IY51;XP_005262864;XP_006714194 Hs.301243 MGC43837 OTTHUMP00000220279;tigger transposable element-derived protein 4 APPROVED protein-coding ENSG00000169989 HGNC:18335 18188 REVIEWED 1323107 TIGD5 tigger transposable element derived 5 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 140990313 140992724 + 144680074 144682485 + 143597904 143600315 + 6480464 12477932;14702039;15489334;21906983;21963094;22797925 84948 Q53EQ6 ABBA01005246;ABBA01005247;AC067930;AK027832;AK223583;AMYH02018945;BC032632;BC069229;CH471162;NM_032862 AAH32632;AAH69229;BAB55398;BAD97303;EAW82226;NP_116251;Q53EQ6 Hs.71574 1680521;2106731;2131235;2131962;5024706 D19S994;RH65386;RH79617;RH80155;TIGD5__5262 FLJ14926;MGC44883 OTTHUMP00000221757;tigger transposable element-derived protein 5 APPROVED protein-coding HGNC:18336 18189 VALIDATED 1343289 TIGD6 tigger transposable element derived 6 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009] 5 5 5 q32 145454069 145461604 - 149372686 149380730 - 149993123 150001167 - 1580863;6480464 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16381901;24250222 81789 Q17RP2 ABBA01026288;AC011406;AK056604;AK092978;AK096325;AL136539;AMYH02012455;BC033641;BC117249;CH471062;CR533559;NM_001243253;NM_030953 AAI17250;BAB71230;BAG53260;CAB66474;CAG38590;CAL38633;EAW61753;NP_001230182;NP_112215;Q17RP2 Hs.169333 1856350;2176872 RH66604;STS-H44364 DKFZp761E2110 OTTHUMP00000160520;OTTHUMP00000224089;tigger transposable element-derived protein 6 APPROVED protein-coding ENSG00000164296 HGNC:18332 18190 VALIDATED 1346517 TIGD7 tigger transposable element derived 7 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3554494 3557062 - 3348808 3355439 - 3298808 3305439 - 6480464 12477932;14702039;15487591;15489334;21988832 91151 I3L2A8;Q6NT04 ABBA01026739;AC004232;AF251050;AI925903;AK308054;AMYH02031288;BC069623;BC069632;BX463753;DC351858;NM_033208 AAH69623;AAH69632;AAK34940;NP_149985;Q6NT04 Hs.161287;Hs.745181 1658171;1677640;2106733;2112888 D16S3375;RH92140;SHGC-37723;TIGD7__5263 FLJ98002;FLJ99447 OTTHUMP00000159671;Sancho;jerky homolog-like;tigger transposable element-derived protein 7 APPROVED protein-coding ENSG00000140993 HGNC:18331 11632 612969 REVIEWED 1606681 TIGIT T cell immunoreceptor with Ig and ITIM domains This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009] 3 3 3 q13.31 112420299 112436499 + 114012833 114029135 + 114293560 114312158 + 8554872 12477932;14702039;19011627;19197944;19815499;21416464;21982860;22421438;22427644;22706088;23154388;24817116 201633 C9J0B0;C9JZW6;Q495A1 ABBA01061638;AC093010;AK097192;AL833175;AMYH02007457;BC101288;BC101289;BC101290;BC101291;BX640915;CH471052;EU675310;NM_173799;XM_005247206 AAI01289;AAI01290;AAI01291;AAI01292;ACD74757;BAC04973;CAE45956;CAI46183;EAW79602;NP_776160;Q495A1;XP_005247263 Hs.421750 DKFZp667A205;FLJ39873;VSIG9;VSTM3 OTTHUMP00000214903;OTTHUMP00000214904;OTTHUMP00000214905;OTTHUMP00000214906;T-cell immunoreceptor with Ig and ITIM domains;V-set and immunoglobulin domain containing 9;V-set and immunoglobulin domain-containing protein 9;V-set and transmembrane domain containing 3;V-set and transmembrane domain-containing protein 3;WUCAM;Washington University cell adhesion molecule APPROVED protein-coding ENSG00000181847 HGNC:26838 08804 612859 VALIDATED 1353666 TIMD4 T-cell immunoglobulin and mucin domain containing 4 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; benzo[a]pyrene (ortholog) 5 5 5 q33.3 152372011 152415965 - 156346293 156390266 - 156919282 156963255 - 737633;1580863;6480464;8554872 12477932 15489334;16940744;17207965;17407086;17439824;18082433;18083575;18294362;18704309;19060906;19217291;19392790;20140011;20237496;20656318;20686565;20727045;20972250;21037090;21896488;22353209;22709877;23505323;23555248;24097068;24204099;24217665;24286866;24768220 91937 B5MCV9;Q96H15 AA843555;ABBA01044278;AC008491;AC026777;AK131025;AK301337;AK312746;AMYH02012541;AMYH02012542;BC008988;CH471062;JX049980;NM_001146726;NM_138379 AAH08988;ADQ32747;AFO66594;BAG62885;EAW61617;NP_001140198;NP_612388;Q96H15 Hs.334907 1716001 RH122743 FLJ27515;TIM-4;TIM4;TIMD-4 OTTHUMP00000160736;OTTHUMP00000197158;SMUCKLER;T-cell immunoglobulin and mucin domain-containing protein 4;T-cell immunoglobulin mucin receptor 4;T-cell membrane protein 4 protein-coding ENSG00000145850 HGNC:25132 15508 610096 VALIDATED 734114 TIMM10 translocase of inner mitochondrial membrane 10 homolog (yeast) The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011] 11 11 11 q12.1-q12.3 54652463 54654751 - 57295936 57298232 - 57528463 57530759 - 6480464 10552927;10611480;11489896;12138093;12477932;12882976;14726512;15489334;16387659;16669873;16712791;18029348;19953087;20877624;21906983;22505724;22939629;22944692;23000965;23824909;24816145;9430585 26519 P62072 ABBA01021474;AF150089;AF152354;AI498204;AK289751;AMYH02024843;AP002893;BC032133;CB106298;CH471076;NM_012456 AAD39995;AAF15104;AAH32133;BAF82440;EAW73753;NP_036588;P62072 Hs.235750 1676930;2109951;2115067 RH45362;RH80354;TIMM10_9493 TIM10;TIM10A OTTHUMP00000234850;OTTHUMP00000234851;OTTHUMP00000234852;mitochondrial import inner membrane translocase subunit Tim10 APPROVED protein-coding ENSG00000134809 HGNC:11814 03768 602251 REVIEWED 731567 TIMELESS timeless circadian clock The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014] 12 12 12 q13.3 56463518 56496570 - 56810157 56843200 - 56416373 56449416 - 6480464;8554872 10428031;11382904;12477932;12875843;14637143;14702039;14985107;15300647;15302935;15342556;15489334;15565336;15798197;15946665;16507006;16964243;17081983;17102137;17116885;17141802;17296725;17909269;18228528;18451105;19470168;19471022;19693801;19839995;19913121;19934327;19996108;20072116;20124417;20149345;20174623;20180986;20211142;20360068;20379614;20554694;20628086;20980603;21139048;21490103;21508667;21573113;21890473;21988832;22006848;22266860;22610502;22672906;22863883;22939629;23000965;23173913;23255133;23325691;23418588;23511638;24144296;24161199;24250222;24816145;9856465;9856466;9891984 8914 Q9UNS1 AB015597;ABBA01008424;AC024884;AF098162;AK000721;AK022702;AK296869;AMYH02026568;AMYH02026569;AMYH02026570;AY207390;BC031514;BC039842;BC050557;BE503292;BP363571;BX640990;CH471054;EU627094;NM_003920 AAC80011;AAH39842;AAH50557;ACD11488;BAA36499;BAG51106;BAG59432;CAE45996;EAW96939;NP_003911;Q9UNS1 Hs.118631 1768313;1796944;2156363 D12S1778;RH48818;TIMELESS_1103 FLJ12640;FLJ20714;TIM;TIM1;hTIM OTTHUMP00000244115;OTTHUMP00000244116;Tof1 homolog;timeless circadian clock 1;timeless homolog APPROVED protein-coding ENSG00000111602 HGNC:11813 04864 603887 REVIEWED 736128 TIMM10B translocase of inner mitochondrial membrane 10 homolog B (yeast) FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004] 11 11 11 p15.4 6621737 6624971 + 6502677 6506109 + 6481447 6484681 + 1580863;6480464 10552927;10611480;11489896;12477932;14702039;14726512;15489334;16344560;20877624;22939629;9731230 26515 B2R4A9;F2Z2B0;Q9Y5J6 ABBA01028669;AC084337;AF150105;AF152355;AF183415;AI052126;AK002130;AK058048;AK311763;AMYH02024270;BC011014;CH471064;DA290694;NM_012192 AAD40011;AAF15105;AAG09684;AAH11014;BAG34706;BAG51018;EAW68706;NP_036324;Q9Y5J6 Hs.54943 1699180;5015619;5015861;5037552;7185938 D10S16;D11S3114;D8S2279;RH103170 FXC1;TIM10B;Tim9b OTTHUMP00000164584;OTTHUMP00000213157;OTTHUMP00000230720;fracture callus 1 homolog;fracture callus protein 1;mitochondrial import inner membrane translocase subunit Tim10 B;mitochondrial import inner membrane translocase subunit Tim9 B APPROVED protein-coding ENSG00000132286 HGNC:4022 16242 607388 VALIDATED 1352849 TIMM13 translocase of inner mitochondrial membrane 13 homolog (yeast) This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013] 19 19 19 p13.3 2363114 2365366 - 2425622 2427914 - 2425624 2427916 - 1580863;6480464 10552927;10611480;11101512;11450972;11489896;11798021;11875042;12154367;12185844;12191765;12221072;12477932;15254020;15489334;16344560;16387659;17329230;17353931;19322201;19471022;20639865;21139048;21145461;21890473;21906983;21988832;22118674;22190034;22863883;22939629;23443559;24250222;24583282;25015289;25036637 26517 K7EIT2;Q9Y5L4 ABBA01002736;AC011522;AF144700;AF152352;AK024764;AL520160;AMYH02035200;BC008607;BI908100;BI966836;BQ015233;CH471139;DA890574;DA947460;NM_012458 AAD39951;AAF15102;AAH08607;ABM82681;ABM85863;EAW69380;EAW69381;NP_036590;Q9Y5L4 Hs.75056 1654501;1793808;2130110;2135130 PMC291826P2;RH16547;RH45373;SHGC-33038 TIM13;TIM13B;TIMM13A;TIMM13B;ppv1 mitochondrial import inner membrane translocase subunit Tim13;mitochondrial import inner membrane translocase subunit Tim13B APPROVED protein-coding ENSG00000099800 HGNC:11816 09573 607383 REVIEWED 733790 TIMM17A translocase of inner mitochondrial membrane 17 homolog A (yeast) ENCODES a protein that exhibits P-P-bond-hydrolysis-driven protein transmembrane transporter activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); protein targeting to mitochondrion (inferred); protein transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of mitochondrial inner membrane; mitochondrial inner membrane presequence translocase complex; INTERACTS WITH 1,10-phenanthroline; all-trans-retinoic acid; amiodarone 1 1 1 q32.1 175048350 175063536 + 201924619 201939789 + 201955491 201970661 + 737677;1580863;6480464;8554872 10339406 10393182;12119107;12477932;14702039;15489334;16169070;16344560;17207965;18826960;20053669;20198662;20877624;20972741;21900206;21906983;21963094;22939629;8893850 10440 Q7RU05;Q99595 ABBA01027522;AC099676;AF106622;AK023063;AK315602;AMYH02002486;AU123184;BC000294;BC004439;BC007106;BC009784;BC013823;BC015098;BC016817;BC020833;BN000001;CH471067;NM_006335;X97544 AAD19596;AAH00294;AAH04439;AAH07106;AAH09784;AAH15098;AAH16817;AAH20833;ADQ32814;BAG37972;CAA66146;CAD29856;EAW91383;EAW91384;EAW91385;NP_006326;Q99595 Hs.20716 1646948;1768932;2124939;2179769;5014051;5015619;5020635;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D7S3207;D8S2278;D8S2279;G29200;RH67823;SHGC-76127;SHGC-76129 TIM17;TIM17A OTTHUMP00000033951;inner membrane preprotein translocase Tim17a;mitochondrial import inner membrane translocase subunit Tim17-A;mitochondrial inner membrane translocase;preprotein translocase protein-coding ENSG00000134375 HGNC:17315 05449 605057 VALIDATED 1350623 TIMM17B translocase of inner mitochondrial membrane 17 homolog B (yeast) This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X p11.23 52908104 52912800 + 48750730 48755489 - 48893447 48898143 - 737677;1580863;6480464 10339406 11042152;12477932;15489334;15772651;18029348;18854154;19377476;19596235;21832049;21906983;21947777;21963094;21987572;22939629;9931253 10245 O60830;V9GYK7;V9GYS0;V9GYU0 ABBA01046078;AC233300;AF034790;AF077039;AF196971;AF207550;AJ005895;AK290207;AMYH02039311;BC010142;BC028017;BC029446;BC091473;CA421979;CB993524;CH471224;NG_015967;NG_015968;NM_001167947;NM_005834 AAC24694;AAD27772;AAH10142;AAH29446;BAF82896;CAA06752;EAW50739;EAW50740;EAW50741;NP_001161419;NP_005825;O60830 Hs.30570 1698944;2110779 RH103041;TIMM17B_9074 DXS9822;JM3;TIM17B OTTHUMP00000032404;inner mitochondrial membrane preprotein translocase;mitochondrial import inner membrane translocase subunit Tim17-B APPROVED protein-coding ENSG00000126768 HGNC:17310 02218 300249 REVIEWED 8549049 TIMM17BP1 translocase of inner mitochondrial membrane 17 homolog B (yeast) pseudogene 1 12 12 12 p12.3 22697060 22697566 + 17553333 17553845 + 17400391 17401191 + 390298 ABBA01067917;AC048352;AMYH02026114;NG_030132 pseudo HGNC:49865 INFERRED 1351951 TIMM21 translocase of inner mitochondrial membrane 21 homolog (yeast) INVOLVED IN mitochondrial respiratory chain complex I assembly; mitochondrial respiratory chain complex IV assembly; protein import into mitochondrial matrix; FOUND IN mitochondrial inner membrane presequence translocase complex; INTERACTS WITH atrazine; calcitriol; copper(2+) sulfate 18 18 18 q22.3 68680277 68690735 + 71815746 71826204 + 74148511 74158969 + 737633;6480464 12477932 11042152;15489334;20877624;21139048;21890473;23260140;23741361;24250222 29090 A8K1K8;J3KRJ3;J3QRI1;Q9BVV7 ABBA01056323;AC084702;AF161503;AK289923;AK313936;AMYH02034988;BC000892;BG431414;BG820086;CH471117;NM_014177;XM_005266689 AAF29118;AAH00892;ABM82061;ABM85240;BAF82612;BAG36655;EAW66540;EAW66541;EAW66542;EAW66543;NP_054896;Q9BVV7;XP_005266746 Hs.532835 1734580;1740183;1768011;2172783 D18S1064;D18S1263;D18S938E;RH68742 C18orf55;HSPC154;TIM21 OTTHUMP00000163746;TIM21-like protein, mitochondrial;mitochondrial import inner membrane translocase subunit Tim21 APPROVED protein-coding HGNC:25010 13706 615180 VALIDATED 1345582 TIMM22 translocase of inner mitochondrial membrane 22 homolog (yeast) ENCODES a protein that exhibits protein channel activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); protein import into mitochondrial inner membrane (inferred); protein targeting to mitochondrion (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane (inferred); INTERACTS WITH arsenite(3-); atrazine; menadione 17 17 17 p13 911709 916736 + 900357 905407 + 997117 1002167 + 1580863;6480464 10611480;11591653;11864609;12477932;14702039;14726512;15489334;19322201;20877624;24816145;8125298 29928 Q9Y584 ABBA01054630;AC015884;AF155330;AK000830;AK225453;AMYH02032726;BC002324;CH471108;NM_013337 AAD40106;AAH02324;BAA91392;EAW90637;EAW90638;NP_037469;Q9Y584 Hs.745034 1783454;2114902 SHGC-102222;SHGC-31242 TEX4;TIM22 mitochondrial import inner membrane translocase subunit Tim22;putative membrane protein;testis-expressed sequence 4 protein-coding HGNC:17317 06262 607251 PROVISIONAL 1347528 TIMM23B translocase of inner mitochondrial membrane 23 homolog B (yeast) ENCODES a protein that exhibits P-P-bond-hydrolysis-driven protein transmembrane transporter activity (inferred); INVOLVED IN intracellular protein transport (inferred); protein transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); mitochondrial inner membrane presequence translocase complex (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 10 10 q11.23 121253 153870 + 49942081 49974957 + 6480464;8554872 10339406;10393182;12437925;12477932;14702039;15044455;15164054;15489334;17207965;21139048;21906983;21963094;22505724;22939629;8125298 100652748 B4DDK6;E7EP42;M0QZG8;Q5SRD1;S4R2X5 AK098044;AK293228;AK295227;AK295370;AK316490;AK316549;AL442003;AL542628;AL672187;BC035067;BU620107;BU928648;DA019889;DC419977;FO393433;FP565721;NM_001290117;NM_001290118;NR_110767;XM_005278340;XM_006710232;XM_006718099 BAG56767;BAG58220;BAG58330;BAG65627;BAH14861;NP_001277046;NP_001277047;Q5SRD1;XP_005278397;XP_006710295;XP_006718162 Hs.499594;Hs.524308 1689109;1689650;1766243;1771131;1780476;2115381;2127982;2133884;2171788;2171902;5114322 Bda68f05;RH1574;RH1575;RH44523;RH68500;SGC35292;SHGC-149602;STS-X57928;WI-17185;WI-19959;stbA746L15SP6 MGC22767;TIMM23;bA592B15.7 OTTHUMP00000019591;OTTHUMP00000019592;putative mitochondrial import inner membrane translocase subunit Tim23B protein-coding ENSG00000204152 HGNC:23581 VALIDATED 732380 TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast) The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012] 10 10 10 q11.23 42892686 42893221 - 51592080 51623386 - 45972453 46003742 + 737677;1580863;6480464 10339406 10393182;12437925;12477932;14702039;14726512;15044455;15164054;15489334;16368877;17207965;18029348;19471022;20139978;21906983;21963094;22268729;22306744;22505724;23260140;23263864;23811401;24636990;8125298;8570611 100287932 B1APJ0;O14925 ABBA01006259;ABBA01033539;AF030162;AF116628;AK223331;AK304883;AL450342;AL672187;AMYH02023034;AMYH02023035;AMYH02023036;AMYH02023037;AMYH02023038;AMYH02023039;AY442341;BC062707;BC066951;BU619060;BY799488;CD514420;NG_032850;NM_006327;NR_073029;NR_073030;U38436 AAB84060;AAF71051;AAH62707;AAH66951;AAR14723;ADQ33011;BAD97051;BAG65620;NP_006318;O14925 Hs.524308;Hs.661964 2109953;2127982;5022578;5037552;5107782;5115168;5118444 D11S3316;D1S1423;D1S3475;D8S2279;RH1575;SHGC-37191;TIMM23_9108 FLJ40725;FLJ56773;FLJ57459;FLJ79448;MGC22767;MGC71995;MGC87383;PRO1197;TIM23 OTTHUMP00000019591;OTTHUMP00000019592;OTTHUMP00000019598;OTTHUMP00000019599;mitochondrial import inner membrane translocase subunit Tim23 APPROVED protein-coding ENSG00000265354 HGNC:17312 605034 REVIEWED 734087 TIMM44 translocase of inner mitochondrial membrane 44 homolog (yeast) ENCODES a protein that exhibits ATP binding (inferred); P-P-bond-hydrolysis-driven protein transmembrane transporter activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); protein targeting to mitochondrion (inferred); protein transmembrane transport (inferred); FOUND IN mitochondrial inner membrane; mitochondrial matrix; mitochondrion; INTERACTS WITH cyclosporin A; thapsigargin; tunicamycin 19 19 19 p13.2 7862805 7879908 - 7991603 8008708 - 7926718 7943823 - 737677;1580863;6480464 10339406 10393182;10848612;12477932;12620389;12677068;15489334;18029348;18781797;20053669;20471030;20877624;21139048;21890473;22939629;23443559;24816145;25027693;8125298 10469 M0QXM9;M0QXU7;M0R124;M0R301;O43615 ABBA01010874;ABBA01010875;AC010336;AF026030;AF041254;AK223062;AK289634;AK309415;AMYH02035411;BC033628;CH471139;CR627419;NM_006351 AAB97740;AAD01797;AAH33628;ABM82227;ABM85412;BAD96782;BAF82323;CAH10507;EAW68954;EAW68955;NP_006342;O43615 Hs.465784 1786712;2109955 SHGC-154855;TIMM44_9116 DKFZp686H05241;TIM44 mitochondrial import inner membrane translocase subunit TIM44;mitochondrial inner membrane translocase;translocator of inner mitochondrial membrane 44 protein-coding ENSG00000104980 HGNC:17316 05450 605058 VALIDATED 1606193 TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) ENCODES a protein that exhibits interleukin-2 receptor binding; phosphoprotein phosphatase activity; protein serine/threonine phosphatase activity; INVOLVED IN mitochondrial membrane organization; peptidyl-tyrosine dephosphorylation; protein dephosphorylation; FOUND IN mitochondrial inner membrane; mitochondrial inner membrane presequence translocase complex; mitochondrion; INTERACTS WITH 4-phenylbutyric acid; arsane; arsenic atom 19 19 19 q13.2 36772761 36783237 + 39971052 39981528 + 39480412 39490888 + 6480464 12437925;12477932;12620389;14702039;15044455;15280358;15489334;16008839;16169070;16196087;17353931;18457437;19380743;20360068;20562864;20639865;21139048;21145461;21343306;21621504;21742040;21875946;21890473;21906983;21930695;21987572;22268729;22354994;22939629;23000965;23098911;23184937;23398456;23438482;23443559;23455922;23752268;23798571;23956138;24457600;24816145;25036637 92609 M0QXC3;M0R003;M0R047;M0R0C3;M0R1Y4;M0R2D2;M0R2F8;M0R2Q2;M0R2Z3;M0R303;Q3ZCQ8 ABBA01040730;AC011500;AK092396;AK097291;AK098197;AMYH02036095;AY444561;AY551341;BC009072;BC010736;BC014674;BC050082;BC121146;BC121147;BE386959;BI856163;BQ925812;BU540967;CH471126;NM_001001563 AAH09072;AAH10736;AAH50082;AAI21147;AAI21148;AAS68537;AAT01208;EAW56901;EAW56902;EAW56903;NP_001001563;Q3ZCQ8 Hs.590956;Hs.597106 1689807;1733422;2165059;5016596;5016700;5024756 A007E39;D19S575;GDB:631802;RH46041;RH79802;RH80030 MGC102733;TIM50;TIM50L Tim50-like protein;homolog of yeast Tim50;mitochondrial import inner membrane translocase subunit TIM50 protein-coding ENSG00000105197 HGNC:23656 12118 607381 VALIDATED 1350353 TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009] X X X q22.1 101120103 101123416 - 100575548 100603957 - 101320560 101348969 - 1600152;1580863;6480464;7240710;8554872;8699517 11405816 10051550;10051608;10552927;10611480;10873677;10878669;11101512;11489896;11601506;11803487;11875042;11956200;12477932;12745081;14509668;14726512;15146197;15254020;15489334;15710860;15772651;16332536;16387659;16411215;17353931;17534980;17999202;18029348;18187620;19615732;19913121;20301334;20301395;20628086;20972266;21139048;21890473;21906983;21984432;22037423;22118674;22190034;23418071;24583282;24816145;7643352;7959728;8841189 1678 O60220 ABBA01044974;AK312117;AL035422;AMYH02040066;AW204693;BC005236;BC006994;BC015093;BC070284;BM467820;BQ013177;CH471115;CN410182;NG_011734;NM_001145951;NM_004085;U66035;XM_005262092 AAC15946;AAH06994;AAH15093;AAH70284;BAG35053;EAX02853;EAX02854;NP_001139423;NP_004076;O60220;XP_005262149 Hs.447877 1676150;1694920;1701868;1774707;2106451;2154659 BTK_4321;D20S1036;G44349;GDB:376892;RH35738;RH93533 DDP;DDP1;DFN1;MGC12262;MTS;TIM8 OTTHUMP00000023681;X-linked deafness dystonia protein;deafness dystonia protein 1;deafness/dystonia peptide;mitochondrial import inner membrane translocase subunit Tim8 A APPROVED protein-coding ENSG00000126953 HGNC:11817 02287 300356;304700;311150 REVIEWED 1626560 TIMM8AP1 translocase of inner mitochondrial membrane 8 homolog A (yeast) pseudogene 1 2 2 2 q24.2 156543327 156544523 - 162933025 162934221 - 162076515 162077711 - 8841189 399520 ABBA01004891;AC008063;AMYH02005094;NG_003187;U66034 1678151;1774707;2164900;2164902 A006J40;D20S1036;G20882;RH12637 DDPP;TIMM8AP APPROVED pseudo HGNC:17802 INFERRED 734090 TIMM8B translocase of inner mitochondrial membrane 8 homolog B (yeast) This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009] 11 11 11 q23.1-q23.2 109108716 109110714 - 111955524 111957522 - 112084800 112086798 - 1580863;6480464;8554872 10552927;10611480;12477932;15489334;16387659;17353931;19913121;20628086;20639865;20877624;20972266;21139048;21890473;21906983;21988832;22053931;22190034;22505724;23000965;24250222;24816145;25015289;8889548 26521 E9PIR3;G3XAN8;Q9Y5J9 ABBA01039805;AF150087;AF152350;AF165967;AK025397;AK312169;AMYH02025583;AP002007;BC000711;BC105986;BC106067;CF541334;CH471065;EF445036;NG_012337;NG_033145;NM_012459;NR_028383 AAD39994;AAD51801;AAF15100;AAH00711;AAI05987;AAI06068;ACA06083;BAG35103;EAW67180;NP_036591;Q9Y5J9 Hs.279915 1669935;1683709;1688610;2144740;2153457 RH64925;RH80714;RH94343;SHGC-53144;WI-11979 DDP2;FLJ21744;MGC102866;MGC117373;TIM8B DDP-like protein;OTTHUMP00000221758;deafness dystonia protein 2;mitochondrial import inner membrane translocase subunit Tim8 B APPROVED protein-coding ENSG00000150779 HGNC:11818 16228 606659 REVIEWED 6481016 TIMM8BP1 translocase of inner mitochondrial membrane 8B pseudogene 1 13 13 30440096 30440306 - 29865959 29866169 - 100874425 ABBA01035707;AL139188;AMYH02027784;NG_032236 pseudo HGNC:39211 INFERRED 6481007 TIMM8BP2 translocase of inner mitochondrial membrane 8B pseudogene 2 X X 133300712 133300962 + 134166682 134166932 + 100874417 ABBA01042404;AC002407;AMYH02040525;NG_032237 pseudo HGNC:39212 INFERRED 1352655 TIMM9 translocase of inner mitochondrial membrane 9 homolog (yeast) TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004] 14 14 14 q21 38925342 38944209 - 58875370 58894232 - 58408652 58427514 - 1580863;6480464 10552927;10611480;11489896;12138093;12477932;14726512;15489334;16387659;17207965;18029348;20877624;21890473;21906983;22304920;22939629;23824909;24250222 26520 G3V2F3;G3V502;Q9Y5J7 ABBA01018258;ABBA01018259;ABBA01018260;AF150100;AF152353;AK000666;AK312095;AL139021;AMYH02029281;AMYH02029282;BC020213;BC054875;CH471061;NM_012460 AAD40006;AAF15103;AAH20213;AAH54875;ADQ32389;BAG35031;EAW80735;EAW80736;EAW80737;EAW80738;NP_036592;Q9Y5J7 Hs.440525 1858239;1858241;2144117 G35361;RH44925;RH46962 TIM9;TIM9A OTTHUMP00000179028;OTTHUMP00000245309;OTTHUMP00000245311;OTTHUMP00000245463;mitochondrial import inner membrane translocase subunit Tim9 APPROVED protein-coding ENSG00000100575 HGNC:11819 09574 607384 PROVISIONAL 6480158 TIMM9P1 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 1 10 10 q22.2 76104305 76104563 - 74344547 74344805 - 100862726 ABBA01020284;AC022026;AMYH02023347;NG_032133 pseudo HGNC:39928 INFERRED 6480155 TIMM9P2 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 2 21 21 q22.2 40588580 40588714 + 39216654 39216788 + 10830953 100862727 ABBA01009348;AF129408;AMYH02037825;NG_032134 pseudo HGNC:39929 INFERRED 6480157 TIMM9P3 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 3 13 13 q14.13 46127027 46127271 - 45552892 45553136 - 100862725 ABBA01050977;AL139326;AMYH02027976;NG_032132 FLJ32682 pseudo HGNC:39930 INFERRED 1351318 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 FOUND IN mitochondrion; nucleus; INTERACTS WITH (+)-catechin; atrazine; copper(2+) sulfate 3 3 3 q13.33 117625927 117651681 + 119217324 119243128 + 119498521 119524281 + 6480464 11076863;11092749;11230166;11256614;12477932;12975309;15489334;15489336;16381901;16712791;16751776;19019082;20413980;20877624;21048031;21139048;21399635;21832049;21833088;22354554;22939629;23000144;24191001;24344204;24457600;24816145;8125298 51300 C9JR82;C9JU35;F8WAU6;F8WB00;F8WC42;G3XA94;H7C5U1;Q9NPL8 ABBA01061583;AC073352;AF139077;AF210057;AK026250;AK225954;AL136622;AL390077;AL390090;AL390094;AMYH02007501;AY358633;BC012341;BG705703;CB105366;CH471052;CR457158;CR533524;DQ572402;NM_016589 AAF62372;AAG43510;AAH12341;AAQ88996;CAB66557;CAB98201;CAB98212;CAB98251;CAG33439;CAG38555;CAL38508;EAW79566;EAW79567;EAW79568;EAW79569;NP_057673;Q9NPL8 Hs.477287 1735252;1771006;2143178;2143180;2155589;2185097 A001T27;D3S2834E;D3S2914E;G19630;RH47148;RH47157 C3orf1;FLJ22597 M5-14 protein;OTTHUMP00000215141;OTTHUMP00000215142;TIMM domain containing-protein 1;complex I assembly factor TIMMDC1, mitochondrial;translocase of inner mitochondrial membrane domain-containing protein 1;transmembrane protein C3orf1 APPROVED protein-coding HGNC:1321 12817 615534 VALIDATED 1347215 TIMP1 TIMP metallopeptidase inhibitor 1 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008] X X X p11.3-p11.23 51636947 51641447 + 47441690 47446190 + 47582291 47586791 + 1580145;1580146;1580147;1580148;1580155;1580156;1580157;1580159;1580160;1580161;1580162;1580163;1580164;1580165;1580166;1580167;1580168;1580169;1580170;1580171;1580172;1580863;2290466;2290349;2290345;2290356;2290399;1600154;2290467;2290351;2290353;2290348;1642026;2312465;2290354;2290364;2312481;2298520;2312464;2298523;2312468;2290346;2290468;2290352;2290343;2290350;2312467;6480464;6484113;8547972 10719361;10773234;11004090;11044612;11595703;11876751;12218659;12487935;12614934;12626459;12951656;14605322;14669348;15073104;15128910;15287862;15363818;15616792;15754326;15797648;15867221;15888067;15944607;16005367;16042227;16103240;16269968;16372907;16683235;16901349;17020653;17083831;17114213;17192464;17407159;17478562;17512313;17569353;17569694;17569872;17695443;17977875;18172859;19134282;19506087;8707259;9472898 10071915;10233411;10441576;10623524;11279011;11598182;11606052;11705862;11762702;11796725;11935340;11940298;12032189;12034345;12063180;12081564;12082592;12147251;12150976;12376362;12406369;12452001;12475252;12477932;12479097;12496489;12538453;12612199;12620441;12634064;12651627;12704667;12714508;12717827;12771930;12791318;12834347;12846741;12861139;12869573;12873541;12904305;12921631;12970724;1420137;14517716;14622947;14630798;14648584;14652000;14661256;14688084;14710472;14734567;14871825;14962256;14973177;14983226;15028476;15051730;15161657;15225209;15248826;15277439;15313474;15340161;15363817;15465038;15479729;15485866;15489334;15494493;15515157;15516987;15530852;15557756;15754388;15818737;15841325;15890357;15896974;16019435;16061701;16100012;16107690;16169070;16188099;16191301;16219294;16248458;16263699;16280123;16288711;16289162;16303743;16335952;16407831;16410344;16474379;16496359;1653055;16555295;16615041;16631927;16740002;16754484;16767366;16772717;16786122;16840178;16864898;16877361;16880228;16917503;16931892;16935611;16940985;16960901;16996520;17008230;17009408;17012236;17045024;17050530;17071711;17072372;17136882;17162914;17182940;17202148;17205957;17209789;17222415;17226791;17299802;17301822;1730286;17340613;17350093;17380436;17409012;17456311;17489740;17493602;17543340;17549663;17564313;17572998;17589947;17634538;17660250;17703334;17726014;17763191;17786346;17878270;17893005;17899257;17920311;17928006;17998244;18025061;18034264;18042068;18049028;18063811;18159069;18214300;18217401;18236174;18273688;18291374;18292822;18298349;18385523;18391843;18395263;18474748;18477480;18487063;18502033;18630499;18634035;18636124;18645261;18683786;18692810;18704317;18787947;18850474;18854176;18945772;18984437;19012952;19019896;19020757;19036126;19134356;19141395;19246282;19288452;19331801;19336475;19358835;19383295;19383343;19383344;19387352;19390929;19430729;19464975;19513566;19524176;19551542;19560452;19596921;19608737;19609944;19629003;19637058;19653096;19717938;19723139;19723899;19728856;19747478;19758569;19766963;19781774;19796534;19814619;19863693;19875168;19887890;19889076;19904223;19911067;19913121;19927649;20021931;20030715;20039537;20041335;20051489;20095885;20111696;20164040;20193458;20215736;20298300;20305574;20361393;20371206;20388222;20423842;20450704;20452482;20459644;20484597;20514432;20533294;20545111;20545310;20556397;20584750;20587546;20595097;20616161;20628086;20628624;20646231;20654099;20655547;20673868;20685094;20707923;20798956;20838751;20853162;20854182;20889295;20921293;21041986;21086628;21094936;21115936;21128246;21139048;21163810;21165404;21167221;21211402;21283828;21427648;21437624;21437772;21454617;21463121;21487066;21506705;21524282;21535601;21547130;21586274;2163605;21684102;21709637;2171551;21720458;21731773;21745383;21763297;21786179;21858035;21860087;21881840;21882477;21903858;21906983;21928345;21946941;21963094;21963718;21969093;21987572;21993004;21995626;22016393;22020222;22051851;22110238;22122951;22139647;22177802;22199358;22200256;22200690;22200710;22204652;22223664;22257687;22268729;22286923;22289852;22291969;22305865;22364921;22397869;22402936;22427646;22457727;22465225;22516898;2251898;22532131;22544540;22547904;22558080;22645431;22667130;22671570;22706255;22712305;22718114;22739984;22788708;22820628;22859303;22883459;22901654;22906271;22957045;22965799;22971139;22975753;22985578;23000965;23016931;23043898;23057632;23060593;23064462;23107442;23122949;23158994;23175213;23179318;23223421;23318123;23388475;23407481;23412981;23457635;23509357;23522389;23525523;23548070;23555182;23557756;23563628;23583449;23592002;23650722;23660069;23661104;23673111;23763354;23768069;23773968;23815085;23817219;23834019;23841813;23874603;23881388;23893334;23900236;23909892;23962148;23967215;23993112;23998545;24039251;24042342;24068394;24113427;24143225;24174628;24212294;24330623;24427345;24447332;24457057;24479343;24635319;24651234;25016699;2921031;3010309;3460333;3688834;3839290;3903517;7507419;8757599;9063449;9286280;9288970;9778693 7076 B4DJK3;H0Y789;P01033;Q5H9A7;Q5H9B4;Q5H9B5;Q6FGX5 A10416;ABBA01052381;ABBA01052382;AK074854;AK296116;AK310206;AK311937;AMYH02039288;AY932824;BC000866;BC007097;BQ181804;BU857950;CH471164;CR407638;CR541982;D11139;FB571112;FB668243;HI574166;L47361;M12670;M59906;NG_008437;NG_012533;NM_003254;S68252;X02598;X03124;XM_005272645;Z84466 AAA52436;AAA63234;AAA75558;AAD14009;AAH00866;AAX47478;ABM82048;ABM85227;BAA01913;BAG34878;BAG52016;BAG58865;CAA00898;CAA26443;CAA26902;CAG28566;CAG46779;CAR95107;CAS92765;CBX47572;EAW59315;EAW59316;NP_003245;P01033;XP_005272702 Hs.522632 1660337;1701858;1741165;1741697;1741699 GDB:178392;GDB:182149;GDB:182150;GDB:192509;STS-AA001911 CLGI;EPA;EPO;FLJ90373;HCI;TIMP;TIMP-1 OTTHUMP00000023214;OTTHUMP00000023216;collagenase inhibitor;erythroid potentiating activity;erythroid-potentiating activity;fibroblast collagenase inhibitor;metalloproteinase inhibitor 1;tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor);tissue inhibitor of metalloproteinases 1 APPROVED protein-coding ENSG00000102265 HGNC:11820 02371 305370 REVIEWED 733906 TIMP2 TIMP metallopeptidase inhibitor 2 This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008] 17 17 17 q25 73446776 73467725 - 76849059 76921472 - 78852977 78925390 - 1580653;1580169;1580863;1580650;1580161;2290349;2290352;2290394;2290395;2290398;2290436;2290406;1600154;2290397;2290392;2290408;2290360;2290359;2312481;2298521;2312468;2290402;2290407;2290358;2290466;2290468;2290467;6480464 10719361;10773234;11004090;11044612;12614934;14744773;15056834;15616792;16619570;16683235;16723886;16901349;17009991;17020653;17240786;17325663;17351970;17374529;17466450;17491697;17505812;17569872;17572184;17642161;17982970;18035688 10353844;10764764;10991943;11049985;11420387;11598182;11606052;11757622;11912288;12032297;12034400;12147251;12372458;12374789;12406369;12439941;12446683;12470034;12475252;12477932;12479097;12602913;12887919;12900406;12970394;12970724;1427908;14517716;14598888;14604886;14605322;14654538;14661256;14702039;14710472;14712492;1480041;14962256;14973177;14983226;15052627;15147743;15193960;15225209;15247230;15248826;15277439;15308656;15351863;15489233;15489334;15557756;15567754;15628723;15672858;15691234;15691353;15754326;15760767;15797648;15841325;15870703;15944607;16036783;16042227;16103240;16142392;16142692;16237750;16275157;16326706;16424893;16425263;16429190;16491114;16623785;16631927;16716258;16728425;16772717;16776850;16940985;17008230;17030988;17067460;17071711;17106248;17130843;17203468;17207965;17222415;17226791;17236757;1730286;17342343;17350093;17353931;17448043;17493172;17493602;17495113;17564313;17589947;17613170;17706812;17786346;17868665;17886098;17893005;17901377;17954022;17979129;17991754;18025061;18042068;18177649;18217401;18260263;18265895;18288718;18291374;18301898;18329693;18424416;18469019;18472160;18474097;18477480;18487063;18498066;18543216;18634035;18674955;1869284;18702016;19020757;19088110;19141395;19187648;19241124;19267203;19317417;19331801;19358835;19383344;19391484;19431211;19438747;19464975;19546837;19551542;19551841;19596921;19640333;19698156;19709349;19723139;19727008;19758569;19821096;19844095;19875168;19883732;19889076;19913121;19933216;20041335;20084057;20138860;20149706;20195229;20215736;20216978;20233321;20452482;20484597;20485444;20514432;20587546;20598922;20616161;20627004;20628086;20634891;20672350;20673868;20685029;20694560;20707923;20718757;20730428;20889295;20940305;20941509;20948207;21086628;21148412;21195432;21228746;21254651;21261731;21421877;21427648;21432777;21437624;21454617;21462296;21463121;21478099;21526499;2157214;21620625;21715326;21732829;21786179;21839835;21871510;22020421;22051851;22110735;22122951;22169692;22200256;22200690;22262409;22270451;22272343;22302011;22374248;22427646;22438955;22511598;22512703;22532131;22546345;22551568;22621753;22685266;22730240;22820140;22880464;22883459;22985025;22985578;23038618;23195431;23205572;23251661;23264224;23320481;23369618;23371049;23388475;23412981;23415672;23427184;23472970;23491141;23536957;23563628;23650722;23661104;23673111;23708302;23769926;23791966;23793312;2380196;23817219;23824909;23855590;23973519;24024966;24042342;24068394;24202705;24210229;24212294;24335752;24355694;24384769;24395652;24403492;24427326;24440352;24444603;24479343;2554304;2793861;7918391;8112602;8757599;8810321;8985130;9182583;9422789;9455735;9705310;9724659;9736043;9837731;9933646 7077 B4DFW2;K7EIX4;P16035 ABBA01002913;ABBA01002914;AC022966;AC100788;AK294290;AL110197;AL713764;AMYH02034074;AMYH02034075;AMYH02034076;AMYH02034077;AMYH02034078;BC010410;BC039613;BC040039;BC040445;BC052605;BC071586;CH471099;FB571110;FB668241;J05593;M32304;NM_003255;S48568;S68860;U44381;U44385;X54533 AAA59581;AAA61186;AAB19474;AAC50729;AAD14025;AAH52605;AAH71586;ADQ32873;BAG57573;CAA38400;CAR95106;CAS92764;EAW89538;EAW89539;EAW89540;EAW89541;NP_003246;P16035;Q96MC4 Hs.633514 1651815;1730229;1739969;2132333;2158190;2170602;5123120 Cda13g07;D13S1217;D17S815E;HSC13G072;RH46997;RH65725;RH71380 CSC-21K;DDC8;TIMP-2 OTTHUMP00000205879;metalloproteinase inhibitor 2;tissue inhibitor of metalloproteinase 2;tissue inhibitor of metalloproteinases 2 APPROVED protein-coding ENSG00000035862 HGNC:11821 01784 188825 REVIEWED 69155 TIMP4 TIMP metallopeptidase inhibitor 4 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq, Jul 2008] 3 3 3 p25 12132043 12138067 - 12194568 12200851 - 12153068 12159351 - 1580863;2290439;2290466;2290434;2290436;1302333;1302825;2290471;2290414;2290421;2290437;2290433;2290435;1642040;2290463;2290420;2290455;2290467;2290470;2290461;6480464 10067796;10082471;10773234;11044612;11466614;11576837;12483743;12707244;12798711;12828172;12923405;14744773;15238617;15273280;15816637;16940965;17009974;17398390;9190892 10198170;11178970;11948685;12087081;12374789;12466243;12475252;12477932;12969699;15489334;15713681;16521002;16809379;18214300;18301898;18336787;18818748;19019335;19036126;19048177;19190762;19376102;19527514;19700750;19734590;19913121;20140262;20219015;20484597;20587546;20628086;20693981;21406447;21620625;21624734;22018271;23229788;24637197;8939999;9182583;9693046 7079 Q99727 ABBA01025206;AC026166;AF057532;AK313018;AMYH02006285;BC010553;BT019627;CH471055;NG_011728;NM_003256;U76456 AAB40391;AAC34422;AAH10553;AAV38433;ABM82721;ABM85904;BAG35853;EAW64122;NP_003247;Q99727 Hs.591665 1666847;1796948 SHGC-76712;TIMP4_1491 TIMP-4 OTTHUMP00000160184;metalloproteinase inhibitor 4;tissue inhibitor of metalloproteinase 4;tissue inhibitor of metalloproteinases 4 APPROVED protein-coding ENSG00000157150 HGNC:11823 03557 601915 REVIEWED 1346434 TINAG tubulointerstitial nephritis antigen This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011] 6 6 6 p12.1 55835406 55917161 + 54173203 54254950 + 54307864 54390152 + 1580863;6480464;8554872 10581025;10652240;10752525;12477932;1466368;17207965;1762287;20157734;20379614;20923822;21988832;3553704;8770961;9643646 27283 B1AQ11;Q5T466;Q5T471;Q6NSC1;Q9UJW2 AB022277;ABBA01050516;AF195116;AF195117;AK312918;AL359380;AL589946;AMYH02013753;AW027949;BC056235;BC070278;CH471081;NM_014464;XM_006715061;XM_006715062;XM_006715063;XM_006715064;XR_427828 AAF08931;AAF08932;AAH56235;AAH70278;ACE86899;ACE87586;ADQ32005;BAA84949;BAG35763;EAX04437;NP_055279;Q9UJW2;XP_006715124;XP_006715125;XP_006715126;XP_006715127 Hs.127011 1855229;2109957;5109281 D1S1425;D6S2019;TINAG_9543 TIN-AG OTTHUMP00000016641 APPROVED protein-coding ENSG00000137251 HGNC:14599 09483 606749 REVIEWED 1352792 TINAGL1 tubulointerstitial nephritis antigen-like 1 The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by antibodies in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 1 1 1 p35.2 30311348 30322513 + 32042086 32053290 + 31576485 31587689 + 1580863;6480464 10799322;11170462;12358155;12477932;12482659;12975309;14702039;15231748;15340161;15489334;15498874;15862967;16169070;16189514;16303743;16344560;19199708;21145461;21988832 64129 B4DNS5;Q9GZM7 AB050716;AB050719;ABBA01023456;AC114488;AF205436;AF236150;AF236155;AF289569;AK027839;AK074124;AK075398;AK292770;AK296322;AK298038;AK298382;AK301070;AMYH02000685;AY358421;BC009048;BC064633;BM923842;CH471059;CS051201;DA656570;NG_028164;NM_001204414;NM_001204415;NM_022164;XM_005271106;XM_005271107 AAG33699;AAG38876;AAG40154;AAH09048;AAH64633;AAL55753;AAQ88787;BAB18636;BAB18727;BAB55403;BAB84950;BAC11596;BAF85459;BAG59016;BAG60337;BAG60618;BAG62677;CAI72096;EAX07603;EAX07604;EAX07605;EAX07606;EAX07607;NP_001191343;NP_001191344;NP_071447;Q9GZM7;XP_005271163;XP_005271164 Hs.199368 5016781 SHGC-67307 ARG1;LCN7;LIECG3;OLRG-2;P3ECSL;TIN-Ag-RP OTTHUMP00000003956;TIN Ag-related protein;TINAG-like 1;TINAGRP;androgen-regulated gene 1;glucocorticoid-inducible protein 5;lipocalin 7;oxidized LDL-responsive gene 2 protein;oxidized-LDL responsive gene 2;tubulointerstitial nephritis antigen-like;tubulointerstitial nephritis antigen-related protein APPROVED protein-coding ENSG00000142910 HGNC:19168 07122 REVIEWED 1349388 TINCR tissue differentiation-inducing non-protein coding RNA This locus is inferred to be non-protein-coding based on the observations that a) there is no homology support for predicted open reading frames; and b) the location of the longer predicted open reading frame renders the transcript a candidate for nonsense-mediated decay (NMD) as the stop codon is >50 nucleotides upstream of the terminal splice site. [provided by RefSeq, Feb 2009] 19 19 19 p13.3 5495533 5505358 - 5558178 5568005 - 5558167 5567994 - 6480464 12477932;15489334;15498874;16303743;23201690;24019000 257000 Q9NPR7 ABBA01056005;AC011533;AF370401;AK075215;AMYH02035327;BC036545;BC047562;BC120980;BC120981;CH471139;CQ783870;HG510290;HG510291;NR_027064 AAQ15237;BAC11478;CAF86900;EAW69168 Hs.515575 1660590;1754107;2148724;2184432;2217756;5021872;5037552 D19S1107;D8S2279;PLAC2_3734;RH35972;RH69981;SHGC-132139;sY3084 FLJ90734;LINC00036;NCRNA00036;PLAC2 APPROVED ncrna ENSG00000223573 HGNC:14607 17859 615241 PREDICTED 735741 TIMP3 TIMP metallopeptidase inhibitor 3 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008] 22 22 22 q12.3 16999013 17061296 + 33196802 33259028 + 32800816 32863041 + 1600153;1559178;1580863;2290409;2290426;2290414;2290418;1600154;2290411;2290421;2290437;2290417;2290413;2312470;2312481;2312482;2290412;2290415;2290416;2290420;2290419;2290424;6480464;7240710;5133679;8554872;8699517 11004090;11576837;12798711;12828172;15217927;15507671;15878627;15928670;16256342;16683235;16736496;17009974;17032447;17083784;17551674;17976707;18082200;18205041;19633828;20889352;8840279;9400791 10196161;10591208;10854443;11353449;11821400;11827795;11827969;11879143;11988096;12044879;12372614;12388270;12477932;12652295;12654640;12687014;12845640;12969699;14532978;14605322;15123717;15203191;15223866;15225209;15297175;15313474;15387372;15461802;15467768;15468069;15489334;15538971;15592495;15599946;15609325;15688381;15714128;15824229;15879156;15944607;16079149;16223891;16225775;16259644;16771712;16858683;16908447;16989765;17030988;17033924;17080297;17130843;17202148;17206475;17209433;17376651;17470431;17488654;17592394;17657847;17676308;17893005;17897911;17901377;18006877;18186556;18291374;18316197;18344519;18383040;18471442;18516293;18566294;18636124;18638486;18818748;18955737;19019335;19020732;19082505;19148529;19296468;19299578;19406980;19431211;19438747;19478078;19527514;19536307;19543729;19581416;19643179;19666115;19799609;19834535;19835597;19913121;19922547;19962668;20140262;20346171;20385819;20385826;20388016;20417062;20484597;20587546;20598922;20606036;20628086;20628624;20672350;20675565;20682640;20801516;20941363;21102583;21339735;21421877;21613373;21665990;21730794;21779788;21809381;21983937;21984580;22171703;22183341;22194599;22228635;22272343;22291969;22378045;22383695;22415751;22492871;22510504;22550340;22694820;22735305;22888638;22982189;23023527;23023649;23042095;23109338;23166318;23172037;23313877;23379820;23401241;23422939;23455636;23468994;23504349;23527119;23575435;23636268;23649698;23794948;23797704;23819566;23830872;23872201;23936642;23991023;24011615;24048576;24129822;24132606;24195505;24221409;24359512;24973455;3903517;7148944;7487894;7550309;7588231;7772252;7782289;7795886;7894485;7920634;7925969;8034652;8163205;8174111;8188246;8521299;8619474;8634721;8639088;8663332;8666262;8728699;8806658;8808469;8919688;8981947;9065415;9110174;9642234 7078 P35625 ABBA01055381;AF001361;AF035289;AK098517;AK298126;AK314871;AL023282;AMYH02038271;AMYH02038272;BC013086;BC014277;BT006848;CH471095;CR456593;D45917;KF457406;KF510586;L15078;NG_009117;NG_029545;NM_000362;S78453;S79779;U02571;U14394;U33110;U33114;U38955;U67195;X76227;X80791;Z30183;Z73979;Z98256 AAA17672;AAA21815;AAB07547;AAB17602;AAB34532;AAB60373;AAB68799;AAC50393;AAH14277;AAP35494;ABM83507;ABM86724;BAA08348;BAG37386;BAG60406;CAA53813;CAA82918;CAG30479;CAK54624;CAK54923;EAW60038;NP_000353;P35625 Hs.644633 1339381;1650355;1661670;1683625;1689478;1711784;1735068;1747421;1752981;1754555;1789046;1796946;1798408;1798808;1798868;1799348;1799912;1801484;1802356;1802446;1802448;1802950;1803964;1804270;1807080;1807884;1808234;1808318;1808652;1809144;1809384;1810016;1810532;1810682;1811614;1812730;1813302;1813960;1814124;1814126;1815076;1815682;1817066;1817276;1817464;1817916;1818644;1820266;1820594;1820656;1820708;1821584;1823648;1823744;1824080;1824252;1824400;1826674;1827210;1827384;1827462;1828766;1829540;1830704;1830894;1832206;1833250;1833860;1835354;1835472;1836970;1837232;1837754;1838140;1840240;1840316;1841420;1841682;1842638;1842716;1844144;1858620;1858658;2016966;2016968;2016970;2016972;2016974;2016976;2016978;2016980;2016982;2016984;2016986;2016988;2016990;2016992;2016994;2016996;2016998;2017000;2017002;2017004;2017006;2017008;2017010;2017012;2017014;2017016;2017018;2017020;2017022;2017024;2017026;2017028;2017030;2017032;2017034;2017036;2017038;2017040;2017042;2017044;2017046;2017048;2017050;2017052;2017054;2017056;2017058;2017060;2017062;2017064;2017066;2017068;2017070;2017072;2017074;2017076;2017078;2017080;2017082;2017084;2017086;2017088;2017090;2017092;2017094;2017096;2017098;2017100;2017102;2017104;2017106;2017108;2017110;2017112;2017114;2017116;2017118;2017120;2017122;2017124;2017126;2017128;2017130;2017132;2017134;2017136;2017138;2017140;2017142;2017144;2017146;2017148;2017150;2017152;2017154;2017156;2017158;2017160;2017162;2017164;2017166;2017168;2017170;2017172;2017174;2017176;2017178;2017180;2017182;2017184;2017186;2017188;2017190;2017192;2017194;2017196;2017198;2017200;2017202;2017204;2017206;2017208;2017210;2017212;2017214;2017216;2017218;2017220;2017222;2017224;2017226;2017228;2017230;2017232;2017234;2017236;2017238;2017240;2017242;2017244;2017246;2017248;2017250;2017252;2017254;2017256;2017258;2017260;2017262;2017264;2017266;2017268;2017270;2017272;2017274;2017276;2017278;2017280;2017282;2017284;2017286;2017288;2017290;2017292;2017294;2017296;2017298;2017300;2017302;2017304;2017306;2017308;2017310;2017312;2017314;2017316;2017318;2017320;2017322;2017324;2017326;2017328;2017330;2017332;2017334;2017336;2017338;2017340;2017342;2017344;2017346;2017348;2017350;2017352;2017354;2017356;2017358;2017360;2017362;2017364;2017366;2017368;2017370;2017372;2017374;2017376;2017378;2017380;2017382;2017384;2017386;2017388;2017390;2017392;2017394;2017396;2017398;2017400;2017402;2017404;2017406;2017408;2017410;2017412;2017414;2017416;2017418;2017420;2017422;2017424;2017426;2017428;2017430;2017432;2017434;2017436;2017438;2017440;2017442;2017444;2017446;2017448;2017450;2017452;2017454;2017456;2017458;2017460;2017462;2017464;2017466;2017468;2017470;2017472;2017474;2017476;2017478;2017480;2017482;2017484;2017486;2017488;2017490;2017492;2017494;2017496;2017498;2017500;2017502;2017504;2017506;2017508;2017510;2017512;2017514;2017516;2017518;2017520;2017522;2017524;2017526;2017528;2017530;2099294;2099296;2099298;2099300;2099302;2099304;2099306;2099308;2099310;2099312;2099314;2099316;2099318;2099320;2099322;2099324;2099326;2099328;2099330;2099332;2099334;2099336;2099338;2099340;2099342;2099344;2099346;2099348;2099350;2099352;2099354;2099356;2099358;2099360;2099362;2099364;2099366;2099368;2099370;2099372;2099374;2099376;2099378;2099380;2099382;2099384;2099386;2099388;2099390;2099392;2099394;2116098;2125021;2136677;2141050;2151211;2151749;2165057;5093530;5124974;7187914 A008R13;A009Q17;D22S1021E;D22S1107;D22S1249;D22S1555;D22S280;D22S617;D22S979E;ECD00040;ECD00244;ECD00274;ECD00523;ECD00810;ECD01617;ECD02062;ECD02108;ECD02109;ECD02365;ECD02896;ECD03059;ECD04505;ECD04917;ECD05098;ECD05140;ECD05308;ECD05561;ECD05684;ECD06000;ECD06259;ECD06335;ECD06810;ECD07376;ECD07671;ECD08007;ECD08091;ECD08092;ECD08570;ECD08879;ECD09582;ECD09688;ECD09782;ECD10012;ECD10386;ECD11207;ECD11372;ECD11403;ECD11429;ECD11878;ECD12916;ECD12964;ECD13136;ECD13223;ECD13298;ECD14451;ECD14720;ECD14807;ECD14847;ECD15510;ECD15901;ECD16488;ECD16583;ECD17241;ECD17767;ECD18076;ECD18832;ECD18892;ECD19649;ECD19783;ECD20045;ECD20242;ECD21304;ECD21343;ECD21906;ECD22038;ECD22526;ECD22565;ECD23285;ECD24511;ECD24530;G32773;G49417;G65334;G65658;REN79430;REN79431;REN79432;REN79433;REN79434;REN79435;REN79436;REN79437;REN79438;REN79439;REN79440;REN79441;REN79442;REN79443;REN79444;REN79445;REN79446;REN79447;REN79448;REN79449;REN79450;REN79451;REN79452;REN79453;REN79454;REN79455;REN79456;REN79457;REN79458;REN79459;REN79460;REN79461;REN79462;REN79463;REN79464;REN79465;REN79466;REN79467;REN79468;REN79469;REN79470;REN79471;REN79472;REN79473;REN79474;REN79475;REN79476;REN79477;REN79478;REN79479;REN79480;REN79481;REN79482;REN79483;REN79484;REN79485;REN79486;REN79487;REN79488;REN79489;REN79490;REN79491;REN79492;REN79493;REN79494;REN79495;REN79496;REN79497;REN79498;REN79499;REN79500;REN79501;REN79502;REN79503;REN79504;REN79505;REN79506;REN79507;REN79508;REN79509;REN79510;REN79511;REN79512;REN79513;REN79514;REN79515;REN79516;REN79517;REN79518;REN79519;REN79520;REN79521;REN79522;REN79523;REN79524;REN79525;REN79526;REN79527;REN79528;REN79529;REN79530;REN79531;REN79532;REN79533;REN79534;REN79535;REN79536;REN79537;REN79538;REN79539;REN79540;REN79541;REN79542;REN79543;REN79544;REN79545;REN79546;REN79547;REN79548;REN79549;REN79550;REN79551;REN79552;REN79553;REN79554;REN79555;REN79556;REN79557;REN79558;REN79559;REN79560;REN79561;REN79562;REN79563;REN79564;REN79565;REN79566;REN79567;REN79568;REN79569;REN79570;REN79571;REN79572;REN79573;REN79574;REN79575;REN79576;REN79577;REN79578;REN79579;REN79580;REN79581;REN79582;REN79583;REN79584;REN79585;REN79586;REN79587;REN79588;REN79589;REN79590;REN79591;REN79592;REN79593;REN79594;REN79595;REN79596;REN79597;REN79598;REN79599;REN79600;REN79601;REN79602;REN79603;REN79604;REN79605;REN79606;REN79607;REN79608;REN79609;REN79610;REN79611;REN79612;REN79613;REN79614;REN79615;REN79616;REN79617;REN79618;REN79619;REN79620;REN79621;REN79622;REN79623;REN79624;REN79625;REN79626;REN79627;REN79628;REN79629;REN79630;REN79631;REN79632;REN79633;REN79634;REN79635;REN79636;REN79637;REN79638;REN79639;REN79640;REN79641;REN79642;REN79643;REN79644;REN79645;REN79646;REN79647;REN79648;REN79649;REN79650;REN79651;REN79652;REN79653;REN79654;REN79655;REN79656;REN79657;REN79658;REN79659;REN79660;REN79661;REN79662;REN79663;REN79664;REN79665;REN79666;REN79667;REN79668;REN79669;REN79670;REN79671;REN79672;REN79673;REN79674;REN79675;REN79676;REN79677;REN79678;REN79679;REN79680;REN79681;REN79682;REN79683;REN79684;REN79685;REN79686;REN79687;REN79688;REN79689;REN79690;REN79691;REN79692;REN79693;REN79694;REN79695;REN79696;REN79697;REN79698;REN79699;REN79700;REN79701;REN79702;REN79703;REN79704;REN79705;REN79706;REN79707;REN79708;REN79709;REN79710;REN79711;REN79712;RH10;RH27838;SGC30866;SHGC-106867;SHGC-132838;SHGC-53228;TIMP3_1307;WI-17990;stSG603059;stSG603060;stSG603062;stSG603063;stSG603064;stSG603065;stSG603066;stSG603067;stSG603068;stSG603069;stSG603070;stSG603071;stSG603072;stSG603073;stSG603074;stSG603075;stSG603076;stSG603077;stSG603078;stSG603079;stSG603080;stSG603081;stSG603082;stSG603083;stSG603084;stSG603085;stSG603086;stSG603087;stSG603088;stSG603089;stSG603090;stSG603091;stSG603092;stSG603093;stSG603094;stSG603095;stSG603096;stSG603097;stSG603098;stSG603099;stSG603100;stSG603101;stSG603102;stSG603103;stSG603104;stSG603105;stSG603106;stSG603107;stSG603108;stSG603109;stSG603110 HSMRK222;K222;K222TA2;SFD;TIMP-3 MIG-5 protein;OTTHUMP00000028880;OTTHUMP00000064008;TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory);metalloproteinase inhibitor 3;protein MIG-5;tissue inhibitor of metalloproteinase 3;tissue inhibitor of metalloproteinases 3 APPROVED protein-coding ENSG00000100234 HGNC:11822 01785 136900;188826 REVIEWED 1314636 TIPARP TCDD-inducible poly(ADP-ribose) polymerase This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 3 3 3 q25.31 154815555 154847904 + 156392205 156424559 + 156674416 156706770 + 737633;1580863;6480464;8554872 12477932 11076863;11230166;11238919;12851707;14702039;15231747;15273990;15489334;15489336;16202152;16344560;16381901;18762178;20852632;21963094;23535730;23544013;24250222 25976 C9JXM5;G5E9W1;H7C5K7;Q05BQ2;Q7Z3E1 ABBA01058839;AC092927;AC106708;AK097785;AK291261;AL080156;AMYH02007973;BC034397;BC050350;BX537965;CH471052;CR749647;DB033700;NM_001184717;NM_001184718;NM_015508 AAH34397;AAH50350;BAF83950;CAB45747;CAD97929;CAH18441;CAL38311;EAW78725;EAW78726;EAW78727;EAW78728;NP_001171646;NP_001171647;NP_056323;Q7Z3E1 Hs.744050 1674488;1704118;1740035;2138930;2138932;2169812;2218096;5494088 A005R03;A006S42;AU046517;D3S3312;D3S3497;G20428;SHGC-79733;TIPARP_3566 ARTD14;DDF1;DKFZp434J214;DKFZp686N0351;DKFZp686P1838;FLJ40466;PARP-1;PARP-7;PARP7;pART14 ADP-ribosyltransferase diphtheria toxin-like 14;OTTHUMP00000213213;OTTHUMP00000213214;OTTHUMP00000213215;OTTHUMP00000213216;OTTHUMP00000213217;OTTHUMP00000213218;TCDD-inducible poly [ADP-ribose] polymerase;poly [ADP-ribose] polymerase 7 APPROVED protein-coding ENSG00000163659 HGNC:23696 18192 612480 REVIEWED 1354058 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010] 14 14 14 q12 4573487 4576518 - 24703454 24712233 - 24234248 24243027 - 1580863;6480464;7240710;8554872;8699517 10581025;10850490;11938440;12477932;12530079;12768206;12835755;14702039;14715659;15133513;15181449;15231715;15292264;15316005;15380063;15383534;15489334;15632001;15741234;16166375;16169070;16344560;16880378;17962804;18252230;18443218;18669893;19090550;19229133;19487455;20127252;20301779;20404094;20560964;20811636;20979174;21044950;21199492;21209389;21355086;21477109;21536674;21731707;21981348;21988832;22064479;22885005;23977114;8125298 26277 B4DFJ1;H0YKA6;H0YKG7;H0YL20;H0YL96;H0YLC9;H0YMN3;Q86TZ8;Q9BSI4 ABBA01061339;AF195512;AK023166;AK225379;AK294119;AK315084;AL096870;AMYH02028880;BC005030;BC019343;BM549897;BX161478;CH471078;DA053760;EU851975;NG_016650;NM_001099274;NM_012461;XM_005267528;XM_005267529 AAF18439;AAH05030;AAH19343;ABM84316;ABM87710;ACF17559;BAB14440;BAG57452;CAD61933;EAW66048;EAW66049;EAW66050;NP_001092744;NP_036593;Q9BSI4;XP_005267585;XP_005267586 Hs.496191 1771714;1796950;2139530;2167871;2169267;2169680;5015961;5022578;5037552;5109281 2088;A002H47;D15S1477;D1S1423;D1S1425;D8S2279;G17788;G35856;RH181;TINF2_1551 DKCA3;TIN2;TIN2L (TRF1)-interacting nuclear factor 2 variant 1;TERF1-interacting nuclear factor 2;TRF1-interacting nuclear protein 2 APPROVED protein-coding ENSG00000092330 HGNC:11824 16056 268130;604319;613990 REVIEWED 5144436 TIPARP-AS1 TIPARP antisense RNA 1 3 3 3 q25.31 154814310 154816853 - 156390960 156393502 - 156673171 156675713 - 12477932;16344560 100287227 ABBA01058839;AC092927;AMYH02007973;BC033324;BC038770;DB050614;NR_027954 Hs.12813 APPROVED ncrna HGNC:41028 VALIDATED 1606275 TIPIN TIMELESS interacting protein The protein encoded by this gene is part of the replisome complex, a group of proteins that support DNA replication. It binds TIM, which is involved in circadian rhythm regulation, and aids in protecting cells against DNA damage and stress. Two pseudogenes and two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 15 15 15 q22.31 43519139 43539060 - 66629008 66679074 - 66336670 66386736 - 6480464 11256614;12477932;12875843;17102137;17116885;17141802;17296725;18029348;19615732;20124417;20174623;20233725;20360068;21139048;21490103;21832049;21890473;22505724;23359676;23511638;8889548 54962 B4DRF3;H3BQ83;H3BTH1;H3BU04;H3BVG9;Q9BVW5 ABBA01038826;ABBA01038827;ABBA01038828;AC055855;AK000523;AK299233;AMYH02030644;BC000870;BK001386;BU596053;BU688750;CH471082;EU551725;KF456074;NM_001289986;NM_017858;XM_005254521;XM_005254522;XM_005254523;XM_006720593;XM_006720594;XM_006720595 AAH00870;ACB21044;BAA91229;BAG61265;DAA01365;EAW77762;EAW77763;NP_001276915;NP_060328;Q9BVW5;XP_005254578;XP_005254579;XP_005254580;XP_006720656;XP_006720657;XP_006720658 Hs.744308 1650756;5022578;5022651 D11S2921;D1S1423;RH48847 FLJ20516 CSM3 homolog;OTTHUMP00000164244;TIMELESS-interacting protein protein-coding HGNC:30750 16917 610716 REVIEWED 1605834 TIPRL TOR signaling pathway regulator TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010] 1 1 1 q23.2 141257154 141280335 + 168148171 168171352 + 168178845 168202114 + 6480464 12477932;12761501;16085932;17353931;17384681;19064610;19536175;21139048;21145461;21832049;21890473;21906983;21963094;22412018;22443683;22505724;22841785;22939629;23000965;23349634;23892082;24255178;24654937 261726 O75663 AB097034;ABBA01047232;ABBA01047233;ABBA01047234;AI167356;AK313520;AL021397;AL049670;AMYH02002101;BC009506;BX431957;CH471067;NM_001031800;NM_152902 AAH09506;BAC77387;BAG36300;CAB41244;EAW90820;EAW90821;NP_001026970;NP_690866;O75663 Hs.209431 1699898;1847604 D1S2566;RH103557 CG9578-like;MGC3794;RP1-69E11.1;TIP;TIP41;dJ69E11.3 OTTHUMP00000032581;OTTHUMP00000032582;TIP41, TOR signaling pathway regulator-like;TIP41, TOR signalling pathway regulator-like;TIP41-like protein;putative MAPK activating protein;putative MAPK-activating protein PM10;type 2A-interacting protein;yeast YPR037W and worm C02C2.6 predicted proteins-like APPROVED protein-coding ENSG00000143155 HGNC:30231 14608 611807 VALIDATED 1322402 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 123318165 123330030 + 126152800 126164828 + 126282905 126294933 + 5685014;6480464;6907045;7240710;8554872 21235323 11526399;11544529;11572860;12062447;12083783;12447442;12477932;12565889;12721283;12724322;14517278;14530355;14625308;14630816;15004556;15123841;15187145;15247281;15276183;15294994;15489334;16024789;16284379;16301656;16415872;16439361;16751103;16968706;16991088;17161867;17258210;17322885;17538633;17610834;18070880;18180278;18221795;18292575;18305471;18369480;18417424;18438411;18583567;18810425;18987746;19120490;19317913;19378034;19456234;19505919;19509286;19509334;19543401;19574958;19592497;19602285;19627277;19693265;19913121;19948740;20016852;20048342;20164415;20188863;20196868;20237496;20400509;20448286;20525286;20577092;20588308;20628086;20797905;20804371;20822478;21048031;21118491;21218381;21324962;21398611;21399862;21419702;21457584;21705416;21829704;21873236;21899704;21903422;21988832;22221660;22593572;22683004;22685567;22970235;23002119;23047423;23255565;23297396;23382074;23419703;23460645;23766530;23802631;24064014;24067789;24084649;24275656;24330528 114609 F5H2K1;P58753 AB446477;ABBA01031224;AF378129;AF406652;AF410783;AK124298;AK313147;AMYH02025746;AP001318;AY282416;AY576785;AY576786;AY576787;BC032474;CH471065;NG_011523;NM_001039661;NM_148910;XM_005271399;XR_428968 AAH32474;AAL01160;AAL05036;AAL05627;AAP31973;AAT90417;AAT90418;AAT90419;ABM81914;ABM85090;BAG35965;BAG54027;BAG55254;EAW67687;EAW67688;EAW67689;NP_001034750;NP_683708;P58753;XP_005271456 Hs.537126 1667167;1690358;5022578 D1S1423;RH45313;RH91927 BACTS1;FLJ42305;Mal;MyD88-2 MyD88 adapter-like protein;OTTHUMP00000179130;OTTHUMP00000179131;OTTHUMP00000179132;Toll-like receptor adaptor protein;adapter protein wyatt;adaptor protein Wyatt;toll/interleukin-1 receptor domain-containing adapter protein;wyatt 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H APPROVED protein-coding ENSG00000150455 HGNC:17192 606252;607948;610799;611162;614382 REVIEWED 1318637 TJAP1 tight junction associated protein 1 (peripheral) This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009] 6 6 6 p21.1 44996876 45025915 + 43445261 43474294 + 43477523 43506556 + 6480464 11602598;12477932;14574404;14702039;15263016;15302935;15489334;16344560;18029348;19322201;22939629;24324551;24816145;8125298 93643 E2QRK7;H0Y4D6;Q5JTD0 ABBA01050680;AJ420477;AK024269;AK074241;AK094907;AK123398;AK127338;AK225787;AK307483;AK308866;AK309119;AL117398;AL355802;AL359813;AMYH02013648;BC046239;BC064401;CH471081;CR749480;DA018836;DA051961;DA098538;DA297698;DA415818;KF458166;NM_001146016;NM_001146017;NM_001146018;NM_001146019;NM_001146020;NM_080604;NR_027394;XM_006715249;XM_006715250;XM_006715251;XM_006715252;XM_006715253;XM_006715254;XM_006715255;XM_006715256;XM_006715257;XM_006715258;XM_006715259;XM_006715260;XM_006715261;XM_006715262;XM_006715263;XM_006715264;XM_006715265;XM_006715266;XM_006715267;XM_006715268;XM_006715269;XM_006715270;XM_006715271 AAH46239;AAH64401;BAB14867;BAG52952;BAG54486;CAH18308;CAI46221;EAX04192;EAX04193;EAX04194;EAX04195;EAX04196;EAX04197;EAX04198;EAX04199;EAX04200;EAX04201;NP_001139488;NP_001139489;NP_001139490;NP_001139491;NP_001139492;NP_542171;Q5JTD0;XP_006715312;XP_006715313;XP_006715314;XP_006715315;XP_006715316;XP_006715317;XP_006715318;XP_006715319;XP_006715320;XP_006715321;XP_006715322;XP_006715323;XP_006715324;XP_006715325;XP_006715326;XP_006715327;XP_006715328;XP_006715329;XP_006715330;XP_006715331;XP_006715332;XP_006715333;XP_006715334 Hs.520145 1674250;1766677;2109959;2170815 D6S2126;SGC35031;SHGC-149964;TJP4__5267 DKFZp686F06131;PILT;TJP4 OTTHUMP00000016453;OTTHUMP00000016454;OTTHUMP00000016455;OTTHUMP00000016456;OTTHUMP00000224080;protein incorporated later into tight junctions;tight junction protein 4 (peripheral);tight junction-associated protein 1 APPROVED protein-coding ENSG00000137221 HGNC:17949 10269 612658 REVIEWED 1349947 TJP1P tight junction protein 1 pseudogene 16 16 p13.3 1421114 1421884 + 1371113 1371883 + 64730 ABBA01030309;AL031721;AMYH02031228;NG_032180;NG_033129 APPROVED pseudo HGNC:14167 INFERRED 1314849 TJP1 tight junction protein 1 This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014] 15 15 15 q13 7633694 7756038 - 29992338 30261038 - 29700134 29968835 - 1580863;2325135;2325131;2317627;2325141;2325133;2325150;2325136;2325139;2325128;2325127;2325137;2325138;2325030;6480464;6484113;6907045;8554872 16567508;18197414;18587491;18848892;18854840;19184677;19319146;19374856;19390485;19653339;19712057;19889224;19929946 10026224;10334923;10575001;10601346;10613913;10856295;10862698;10966866;11018051;11042084;11060040;11228248;11257119;11292600;11489913;11557048;11590321;11700038;11734628;12023291;12064590;12064592;12152786;12154091;12169098;12477932;12488461;12578837;12639940;12708492;12725331;12742348;12808044;12808048;12865409;12881224;12953056;14628289;14757759;15054114;15183511;15456900;15489334;15500294;15540229;15622522;15834686;15855653;1590354;15977641;16140936;16344560;16427635;16508013;16637659;16737969;16891661;16909128;16944923;17039425;17081983;17118974;17217619;17243118;17259442;17509776;17541973;17760848;17928286;17962811;18003888;18029348;18056766;18162065;18315903;18329007;18386163;18418437;18474622;18502210;18562690;18569453;18574677;18591668;18636092;18649178;18662404;18667611;18802961;18823282;18922801;18941231;19017651;19017653;19071123;19199833;19322201;19332538;19615732;19639579;19661441;19784548;19840438;19885549;19885626;19954602;20003786;20150971;20200156;20200207;20360068;20562859;20576493;20624003;20723289;20808826;20850437;20930113;21129259;21139048;21240187;21342646;21387411;21411628;21454477;21486949;21536752;21641584;21732359;21764480;21764691;21785870;21832836;21857898;21858117;21872657;21890473;21906983;21963094;21965293;21965684;22030391;22064657;22219277;22245583;22334078;22586326;22591361;22671591;22673509;22711802;22745667;22808170;22898551;22931549;22939629;23000965;23151788;23220562;23241943;23291589;23398456;23428392;23553632;23554480;23670122;23820955;23856837;23967087;24074602;24255178;24294375;24318462;24327615;24338688;24657059;24660027;7542259;7682777;7798316;8395056;8486731;8619474;8825647;9110174;9214391;9531559;9611137;9707407;9792678;9792688 7082 G3V1L9;G5E9E7;H0Y3R8;H0YKB1;H0YLT6;J3QKQ9;Q07157;Q6MZU1 AB370197;ABBA01010400;ABBA01010401;AC022613;AC087455;AC243587;AC244165;AF035298;AF169196;AK302971;AK304758;AK308113;BC036090;BC111712;BX640879;CH471205;CN372462;CR749235;DA752892;DQ015919;KF511213;NM_001301025;NM_001301026;NM_003257;NM_175610;XM_005254616;XM_005254617;XM_005254618;XM_005254619;XM_005254620;XM_005254621;XM_006720660;XM_006720661;XM_006725553;XM_006725554;XM_006725555;XM_006725556;XM_006725557;XM_006725558;XM_006725559;XM_006725560 AAG43399;AAI11713;AAY22179;ACE86704;ACE87388;BAF95000;BAG64116;BAG65513;CAE45936;CAH18091;EAW51506;EAW51507;EAW51508;EAW51509;EAW51510;NP_001287954;NP_001287955;NP_003248;NP_783297;Q07157;XP_005254673;XP_005254674;XP_005254675;XP_005254676;XP_005254677;XP_005254678;XP_006720723;XP_006720724;XP_006725616;XP_006725617;XP_006725618;XP_006725619;XP_006725620;XP_006725621;XP_006725622;XP_006725623 Hs.743990 1647550;1776512;1789234;1796952;2113846;2135900;2150026;2156272;2179182;2186557;5121287 A004N26;G10656;G65615;RH48761;SGC32975;SHGC-31313;STS-L14837;TJP1;TJP1_732;WI-20235;WIAF-2543 DKFZp686M05161;MGC133289;ZO-1 OTTHUMP00000174520;OTTHUMP00000174522;tight junction protein 1 (zona occludens 1);tight junction protein ZO-1;zona occludens 1;zona occludens protein 1;zonula occludens 1 protein;zonula occludens protein 1 APPROVED protein-coding ENSG00000104067 HGNC:11827 03002 601009 VALIDATED 733146 TJP2 tight junction protein 2 This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 9 9 9 q13-q21 42332221 42460614 + 71714875 71870124 + 69099959 69255208 + 734629;1600163;1580863;6480464;6907045;7240710;8554872;8699517 12704386;17234953 10026224;10360833;10495427;10575001;10601346;10613913;10874042;10966866;11018256;11042084;11076863;11598001;11855865;12023291;12152786;12403786;12477932;12645256;12829691;14512431;14515355;15054114;15144186;15164053;15302935;15324660;15489334;15489336;15570572;15592455;15768832;15778465;15975580;15977641;16159877;16344560;16381901;16697675;16964243;17081983;17217619;17353931;18003888;18029348;18224337;18569453;18667611;18823282;19019082;19071123;19148554;19342771;19380416;19418635;19538295;19615732;19784548;20301607;20562859;20602916;20850437;20868367;20868680;21139048;21641584;21679692;21685940;21890473;21906983;22044751;22094256;22586326;22591361;22671599;22731716;22863883;22939629;23396134;23602568;23605953;23612256;23851495;23885123;24255178;24614073;24660027;24816145;7542259;7951235;8824195;9458817;9792688 9414 B1AN85;B1AN86;B7Z2R3;B7Z954;Q9UDY2;U3KQJ2 AA724570;ABBA01033802;ABBA01033803;ABBA01033804;ABBA01033805;AF083892;AF083893;AF177518;AF177519;AF177520;AF177521;AF177522;AF177523;AF177524;AF177525;AF177526;AF177527;AF177528;AF177529;AF177530;AF177531;AF177532;AF177533;AF489824;AI738923;AK025185;AK295016;AK295034;AK302483;AK304447;AK307697;AK308564;AL162730;AL358113;AL590238;AMYH02020930;AMYH02020931;AMYH02020932;AMYH02020933;BC027592;BC028426;CH471089;CX865985;DA270962;DB090695;DB196171;DC325189;L27476;NG_016342;NM_001170414;NM_001170415;NM_001170416;NM_001170630;NM_004817;NM_201629;U84581;XM_005252311;XM_005252312;XM_005252313;XM_005252314;XM_005252315;XM_006717324 AAA61300;AAB41794;AAC02527;AAC33121;AAC33122;AAD20387;AAD56218;AAD56219;AAH27592;AAM28524;BAH11949;BAH11954;BAH13722;BAH14190;CAL37567;CAL37590;CAL37681;CAL37845;EAW62476;EAW62477;EAW62478;EAW62479;EAW62480;NP_001163885;NP_001163886;NP_001163887;NP_001164101;NP_004808;NP_963923;Q9UDY2;XP_005252368;XP_005252369;XP_005252370;XP_005252371;XP_005252372;XP_006717387 Hs.50382;Hs.736223 1686991;1712288;1732403;1732435;1758475;1760227;1767512;1853292;2138795 D9S1716;D9S744E;D9S886;G54053;RH39762;SGC30152;SHGC-132518;SHGC-148426;SHGC-34170 C9DUPq21.11;DFNA51;DUP9q21.11;MGC26306;PFIC4;X104;ZO-2;ZO2 Friedreich ataxia region gene X104 (tight junction protein ZO-2);OTTHUMP00000021431;OTTHUMP00000021432;OTTHUMP00000161623;tight junction protein ZO 2;tight junction protein ZO-2;zona occludens 2;zona occludens protein 2;zonula occludens protein 2 APPROVED protein-coding ENSG00000119139 HGNC:11828 06369 607709;607748;615878 REVIEWED 1319483 TJP3 tight junction protein 3 The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012] 19 19 19 p13.3 3665215 3688325 + 3708335 3750811 + 3708337 3750813 + 1580863;6480464;8554872 10575001;10601346;11557048;12021270;12477932;14702039;15057824;16344560;17110338;18823282;19807924;21411630;8889548;9531559 27134 K7EJ86;K7ESC0;O95049 ABBA01002835;ABBA01002836;ABBA01002837;ABBA01002838;ABBA01002839;ABBA01002840;ABBA01002841;AC005954;AC006125;AK027292;AK091118;AK128237;AK304462;AL555606;AMYH02035260;AMYH02035261;AMYH02035262;BC108906;BC108907;BI547657;BM981999;CH471139;DB079164;NM_001267560;NM_001267561;XM_005259539;XM_006722724 AAC72274;AAI08907;AAI08908;BAB55020;BAG52285;BAG54652;BAG65278;EAW69292;EAW69293;NP_001254489;NP_001254490;O95049;XP_005259596;XP_006722787 Hs.25527 1652853;1698940;2109047 APBA3_8956;RH103039;RH78751 MGC119546;ZO-3;ZO3 tight junction protein 3 (zona occludens 3);tight junction protein ZO-3;zona occludens 3;zona occludens protein 3;zonula occludens protein 3 APPROVED protein-coding ENSG00000105289 HGNC:11829 18194 612689 REVIEWED 736473 TK1 thymidine kinase 1, soluble ENCODES a protein that exhibits identical protein binding; nucleoside kinase activity; zinc ion binding; INVOLVED IN nucleotide biosynthetic process; protein homotetramerization; PARTICIPATES IN pyrimidine metabolic pathway; ASSOCIATED WITH Breast Neoplasms; Carcinoma, Non-Small-Cell Lung; Uterine Cervical Neoplasms; FOUND IN cytosol (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 17 17 17 q23.2-q25.3 72766591 72779726 - 76170160 76183285 - 78174079 78187204 - 1580863;2317243;2317242;2317237;6480464;6907045 10883887;11474248;15583816 10924519;11389691;11992400;12449723;12477932;12699056;1370831;14659972;14697231;14701726;14719072;15153115;15231747;15353126;15489334;15611477;15733844;15809747;15978330;16169070;16964243;16969512;17065087;17227951;17407781;1848304;18615770;19087190;19123476;19282758;19396699;19654105;19738201;19913121;19957115;20003201;20140744;2026611;20354751;20372850;20450760;20479645;20544518;20544519;20554529;20560637;20592392;20628086;20849417;21139048;21505426;21545220;21764789;21832049;21890473;21900206;21906983;21963094;21988832;22027876;22143937;22263569;22385435;2263164;22741536;23000965;23116493;23179401;23229746;23693054;24455740;2538159;3128713;3301530;3335503;3785218;6549046;8786092;9575153 7083 K7ENW5;K7ERJ1;K7ERV3;K7ES52;P04183 AA633286;AB451268;AB451395;ABBA01002941;AC021593;AC087645;AK314950;AMYH02034048;AW183491;BC006484;BC007872;BC007986;BI754079;BT006941;CH471099;K02581;M13643;M15205;NM_003258;XM_005257631 AAA61187;AAA61189;AAA61191;AAH06484;AAH07872;AAH07986;AAP35587;BAG37455;BAG70082;BAG70209;EAW89505;EAW89506;EAW89507;EAW89508;NP_003249;P04183;XP_005257688 Hs.515122 1663099;1741169;1741375;1744963;1791804;1792316;1793878;2135072;2190845 G06495;GDB:178395;GDB:180945;GDB:583421;PMC126057P2;PMC140776P1;PMC303366P4;RH11430;TK1 TK2 OTTHUMP00000198229;thymidine kinase 1;thymidine kinase 1 soluble isoform;thymidine kinase, cytosolic;thymidine kinase-1 protein-coding ENSG00000167900 HGNC:11830 01771 188300 VALIDATED 1319538 TK2 thymidine kinase 2, mitochondrial This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012] 16 16 16 q22-q23.1 51048477 51090888 - 66541906 66584315 - 66508003 66550412 - 1358594;1580863;6480464;6907045;7240710;8554872;8699517 12873860 11687801;12391347;12477932;12493767;12682338;12687391;14659972;15639197;15907288;1597187;16344560;16969512;17065084;17468435;17913703;18021809;18265975;18446447;18508266;19154348;19265691;19736010;19878914;20237496;20877624;21382338;21937588;22661713;23230576;23932787;24198295;24455740;605384;9079672;9598140;9989599 7084 A4IF54;A5PLM0;B4DIW4;B4E0Z4;E5KNQ5;F5GYK4;H3BP77;H3BV57;J3KS73;J3KSZ2;J3QL12;J3QRP0;O00142;Q8IZR3 ABBA01025408;AC010542;AF521891;AK026021;AK026041;AK294627;AK295808;AK302976;AK303590;AK316226;AL038860;AMYH02032208;BC029263;BC040667;BC113928;BC134344;BC142970;CH471092;DA500158;NG_016862;NM_001172643;NM_001172644;NM_001172645;NM_001271934;NM_001271935;NM_001272050;NM_004614;NR_073520;U77088;U80628;Y10498 AAC51167;AAC51168;AAI34345;AAI42971;AAN73847;BAG57808;BAG58626;BAG64119;BAG64606;BAH14597;CAA71523;EAW83013;EAW83014;EAW83015;EAW83016;EAW83017;NP_001166114;NP_001166115;NP_001166116;NP_001258863;NP_001258864;NP_001258979;NP_004605;O00142 Hs.512619 1667044;1679788;1684078;1685027;1738827;2146580;2187554 D16S2884;RH65134;RH65267;RH68517;RH94378;SHGC-60678;SHGC-60758 MTDPS2;MTTK;mt-TK OTTHUMP00000174784;OTTHUMP00000228848;OTTHUMP00000228849;OTTHUMP00000228850;thymidine kinase 2 APPROVED protein-coding ENSG00000166548 HGNC:11831 01770 188250;609560 REVIEWED 1345157 TKCR torticollis, keloids, cryptorchidism and renal dysplasia ASSOCIATED WITH Torticollis keloids cryptorchidism renal dysplasia (inferred) 7240710 6132873 7085 HGNC:11833 314300 732645 TKT transketolase This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012] 3 3 3 p14.3 53225747 53257192 - 53258723 53290130 - 53224707 53256114 - 724769;1599574;1580863;1300048;1641798;1641814;1580394;6480464;6907045;7240710 12721358;1567394;16116031;2843500;9924800 11736629;12477932;12665801;14702039;14702098;1486804;15302935;15489334;15592455;15952740;16009940;16196087;16289162;16712791;16916647;17353931;17623298;18029348;18676363;18781797;19056867;19110265;19190083;19738201;20000738;20360068;20471030;20562859;20667822;20826743;21044950;21076409;21081666;21139048;21145461;21150319;21319273;21555518;21890473;21906983;21963094;21987572;22053931;22268729;22505724;22536838;22645655;22939629;22944692;23000965;23118983;23261987;23492569;23874603;24114639;24583282;24654937;24816145;2495942;25015289;8125298;8419340;8850526;8969223;9115179;9357955;9611778 7086 B4E022;E9PFF2;F8W888;F8WAX4;P29401;V9HWD9 ABBA01024484;ABBA01024485;ABBA01024486;ABBA01024487;ABBA01024488;ABBA01024489;AC097015;AC247043;AK057092;AK092084;AK093667;AK223614;AK289454;AK293438;AK301231;AK303191;AK309482;BC002433;BC008615;BC009970;BC024026;BE504944;BQ430230;BX647248;BX649193;CA421169;CB139769;CH471055;DB503248;DC406010;EU794667;L12711;NG_027815;NM_001064;NM_001135055;NM_001258028;NR_047580;U55017;X67688;XM_006713319 AAA61222;AAA98961;AAH02433;AAH08615;AAH09970;AAH24026;ABM84004;ABW03565;ACJ13721;BAD97334;BAF82143;BAG51860;BAG52746;BAG56942;BAG62803;BAG64284;CAA47919;CAE46212;EAW65281;EAW65282;NP_001055;NP_001128527;NP_001244957;P29401;XP_006713382 Hs.89643 1686808;1764089;2162502;2191021;5126789 MARC_13462-13463:1002299004:1;RH79674;SHGC-147747;SHGC-57226;WI-18916 FLJ34765;HEL107;TK;TKT1 OTTHUMP00000212664;OTTHUMP00000212667;OTTHUMP00000212668;epididymis luminal protein 107 APPROVED protein-coding ENSG00000163931 HGNC:11834 06001 271665;606781 REVIEWED 1604771 TKTL2 transketolase-like 2 ENCODES a protein that exhibits metal ion binding (inferred); transketolase activity (inferred); INVOLVED IN metabolic process (inferred); PARTICIPATES IN pentose phosphate pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 1,3-dinitrobenzene (ortholog); 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 4 4 4 q32.2 161724510 161727310 - 164392245 164395047 - 163471095 163473895 - 6907045;6480464;8554872 11076863;11230166;11256614;12477932;14702039;15489336;16189514;16344560;16381901;20800603 84076 Q96LZ0;Q9H0I9 ABBA01070272;AC093788;AK057325;AK057537;AK098582;AK314517;AL136779;AL834334;AMYH02010416;BC028707;BC125101;BC142943;CH471056;CR533560;DB095901;HC006918;NM_032136 AAH28707;AAI25102;AAI42944;AAI43054;AAI43055;AAI46699;BAB71427;BAB71524;BAG37115;CAB66713;CAD39002;CAG38591;CAL37955;CBH19264;EAX04838;NP_115512;Q9H0I9 Hs.303923 DKFZp434L1717;FLJ32975 OTTHUMP00000220340;transketolase-like protein 2 protein-coding ENSG00000151005 HGNC:25313 13159 VALIDATED 1351621 TKTL1 transketolase-like 1 The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] X X X q28 153685095 153719771 + 153523979 153558713 + 154295674 154330363 + 1580863;6480464;6907045;8554872 11076863;11256614;12477932;15489334;15489336;15772651;15991799;16344560;16381901;16465194;16969476;17321041;18302154;18394773;18550470;18615628;18686341;19065656;19331662;19419973;19655166;20103683;20200485;20385008;20592357;20596653;20826743;20884117;21854597;21980427;22027741;22445516;22658715;22803947;23118983;23130932;23261987;23446634;24193262;24304513;24390277;8838793 8277 A2ID95;B7Z7I0;B7Z7M4;F8WF97;H0Y808;P51854 ABBA01045295;ABBA01045296;ABBA01045297;ABBA01045298;ABBA01045299;ABBA01045300;ABBA01045301;ABBA01045302;ABBA01045303;ABBA01045304;AC245140;AK292224;AK292261;AK301724;AK302044;AK302261;BC025382;BG718121;BX664723;CH471172;DA505601;DB524246;NG_028264;NM_001145933;NM_001145934;NM_012253;U14622;X91817;X91818;Z49258 AAA21557;AAH25382;ABM81738;ABM84893;BAF84913;BAF84950;BAH13542;BAH13616;BAH13660;CAA62925;CAH69899;CAH69900;CAL37456;CAL38410;CAM13053;CAM13054;EAW72749;EAW72750;EAW72751;EAW72752;EAW72753;NP_001139405;NP_001139406;NP_036385;P51854 Hs.102866 1694286;1747695;1747697;1787396;1800310;1800550;1803002;1807958;1808376;1808510;1808948;1814344;1814554;1815152;1815154;1815688;1817282;1818080;1819718;1820214;1821052;1821724;1821936;1822456;1823122;1825436;1825596;1829454;1834822;1839016;1843352;1844452;2036116;2036118;2036120;2036122;2036124;2036126;2036128;2036130;2036132;2036134;2036136;2036138;2036140;2036142;2036144;2036146;2036148;2036150;2036152;2036154;2036156;2036158;2036160;2036162;2036164;2036166;2036168;2036170;2036172;2036174;2036176;2036178;2036180;2036182;2036184;2036186;2036188;2036190;2036192;2036194;2036196;2036198;2036200;2036202;2036204;2036206;2036208;2036210;2036212;2036214;2036216;2036218;2036220;2036222;2036224;2036226;2036228;2036230;2036232;2036234;2036236;2036238;2036240;2036242;2036244;2036246;2036248;2036250;2036252;2036254;2036256;2036258;2036260;2036262;2036264;2036266;2036268;2036270;2036272;2036274;2036276;2036278;2036280;2036282;2036284;2036286;2036288;2036290;2036292;2036294;2036296;2036298;2036300;2036302;2036304;2036306;2036308;2036310;2036312;2036314;2036316;2036318;2036320;2036322;2036324;2036326;2036328;2036330;2036332;2036334;2036336;2036338;2036340;2036342;2036344;2036346;2036348;2036350;2036352;2036354;2036356;2036358;2036360;2036362;2036364;2036366;2036368;2036370;2036372;2036374;2036376;2036378;2036380;2036382;2036384;2036386;2036388;2036390;2036392;2036394;2036396;2036398;2036400;2036402;2036404;2036406;2036408;2036410;2036412;2036414;2036416;2036418;2036420;2036422;2036424;2102396;2102398;2102400;2102402;2102404;2102406;2102408;2102410;2102412;2102414;2102416;2102418;2102420;2102422;2102424;2102426;2102428;2102430;2170115 ECD01013;ECD01135;ECD02392;ECD04957;ECD05169;ECD05237;ECD05457;ECD08201;ECD08307;ECD08610;ECD08611;ECD08882;ECD09691;ECD10096;ECD10929;ECD11181;ECD11603;ECD11948;ECD12054;ECD12316;ECD12649;ECD13825;ECD13906;ECD15858;ECD18559;ECD20687;ECD22884;ECD23440;G42838;G66672;G66673;REN89067;REN89068;REN89069;REN89070;REN89071;REN89072;REN89073;REN89074;REN89075;REN89076;REN89077;REN89078;REN89079;REN89080;REN89081;REN89082;REN89083;REN89084;REN89085;REN89086;REN89087;REN89088;REN89089;REN89090;REN89091;REN89092;REN89093;REN89094;REN89095;REN89096;REN89097;REN89098;REN89099;REN89100;REN89101;REN89102;REN89103;REN89104;REN89105;REN89106;REN89107;REN89108;REN89109;REN89110;REN89111;REN89112;REN89113;REN89114;REN89115;REN89116;REN89117;REN89118;REN89119;REN89120;REN89121;REN89122;REN89123;REN89124;REN89125;REN89126;REN89127;REN89128;REN89129;REN89130;REN89131;REN89132;REN89133;REN89134;REN89135;REN89136;REN89137;REN89138;REN89139;REN89140;REN89141;REN89142;REN89143;REN89144;REN89145;REN89146;REN89147;REN89148;REN89149;REN89150;REN89151;REN89152;REN89153;REN89154;REN89155;REN89156;REN89157;REN89158;REN89159;REN89160;REN89161;REN89162;REN89163;REN89164;REN89165;REN89166;REN89167;REN89168;REN89169;REN89170;REN89171;REN89172;REN89173;REN89174;REN89175;REN89176;REN89177;REN89178;REN89179;REN89180;REN89181;REN89182;REN89183;REN89184;REN89185;REN89186;REN89187;REN89188;REN89189;REN89190;REN89191;REN89192;REN89193;REN89194;REN89195;REN89196;REN89197;REN89198;REN89199;REN89200;REN89201;REN89202;REN89203;REN89204;REN89205;REN89206;REN89207;REN89208;REN89209;REN89210;REN89211;REN89212;REN89213;REN89214;REN89215;REN89216;REN89217;REN89218;REN89219;REN89220;REN89221;SHGC-172421;SHGC-58084;stSG603936;stSG603939;stSG603940;stSG603941;stSG603942;stSG603943;stSG603944;stSG603945;stSG603946;stSG603947;stSG603948;stSG603950;stSG603955;stSG603956;stSG603957;stSG603958;stSG603959;stSG603960 TK 2;TKR;TKT2 OTTHUMP00000024307;OTTHUMP00000024308;transketolase 2;transketolase-2;transketolase-like protein 1;transketolase-related protein APPROVED protein-coding ENSG00000007350 HGNC:11835 02080 300044 REVIEWED 1602658 TLCD1 TLC domain containing 1 FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; atrazine 17 17 17 q11.2 23910529 23913112 - 27051366 27053949 - 28724348 28728095 - 6480464 12151215;12477932;21139048 116238 K7ELX5;K7ESD9;Q96CP7 ABBA01015048;AC010761;AMYH02033227;BC014072;BF478215;BX106421;CA453962;CH471159;NG_012263;NM_001160407;NM_138463;XM_006721671 AAH14072;ACE86593;ACE87274;ADZ15867;EAW51133;EAW51134;NP_001153879;NP_612472;Q96CP7;XP_006721734 Hs.499952 1690748;2147850;2175895 G28287;RH78645;SHGC-56895 OTTHUMP00000163534;OTTHUMP00000163535;TLC domain-containing protein 1;calfacilitin protein-coding ENSG00000160606 HGNC:25177 14015 VALIDATED 2292702 TLCD2 TLC domain containing 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH copper atom; copper(0); valproic acid 17 17 17 p13.3 1621786 1629366 - 1606084 1613662 - 1702790 1710368 - 6480464 16625196;16793762 727910 A6NGC4 ABBA01054671;AC130343;AK000038;AMYH02032750;AMYH02032751;CH471108;NM_001164407 A6NGC4;EAW90587;NP_001157879 Hs.531005 1662359;2175687;5015861;5016478;5020948;5021872;5022200;5022463;5022578;5022651;5037552;5117897;7185938 D10S16;D11S2921;D1S1423;D3S1673;D8S2279;G35510;GDB:434012;GDB:631813;L18426;RH12131;WI-17501;sY3084 OTTHUMP00000209151;TLC domain-containing protein 2 protein-coding ENSG00000185561 HGNC:33522 VALIDATED 1348581 TLDC2 TBC/LysM-associated domain containing 2 ASSOCIATED WITH Melanoma (inferred) 20 20 20 q11.23 32212079 32230180 + 35504570 35522632 + 36876167 36894229 + 8554872 12477932 140711 A0PJX2;A2A2J3 ABBA01006597;AK123544;AL079335;AMYH02037040;BC127688;BC130646;BC130648;CH471077;NM_080628 A0PJX2;AAI27689;AAI30647;AAI30649;ADR83506;BAG53910;EAW76092;EAW76093;NP_542195 Hs.472630 1650798;1652559;1666705;1857030;2109797;2118876 A005D07;RH45857;RH48138;SAMHD1_9434;WI-11878;WI-16154 C20orf118;dJ132F21.2 OTTHUMP00000178799;TBC/LysM-associated domain-containing protein 2;TLD domain containing 2;TLD domain-containing protein 2;hypothetical protein LOC140711;uncharacterized protein C20orf118 APPROVED protein-coding ENSG00000101342 HGNC:16112 18554 PROVISIONAL 1605650 TLDC1 TBC/LysM-associated domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN lysosomal membrane; INTERACTS WITH arsenous acid; diarsenic trioxide; progesterone 16 16 16 q24.1 68812050 68840421 - 84509966 84538366 - 84476360 84504760 - 6480464;8554872 10997877;12477932;14702039;16189514;16712791;17897319;19060904;21906983;22939629;8889548;8889549 57707 A8K5C2;H3BM75;H3BPI4;H3BQ13;H3BTC5;H3BUB0;Q6P9B6 AA115393;AB046829;ABBA01016911;AC022165;AK021995;AK291237;AK297241;AK300132;AK310887;AL137316;AMYH02032568;AV718305;BC023251;BC060844;BG748167;BI767086;BM674034;BM676714;BM715013;BM715579;BM922004;BQ009692;BU955954;CB160601;CH471114;NM_020947;XM_005256074;XM_005256075;XM_005256077;XM_006721240 AAH23251;AAH60844;BAB13435;BAF83926;BAG59721;BAG61921;CAB70693;EAW95478;EAW95479;EAW95480;NP_065998;Q6P9B6;XP_005256131;XP_005256132;XP_005256134;XP_006721303 Hs.288274 1710228;2157276;2158956;5014063;5022651;5024761;5118877 D11S2921;D11S3745;D15S1390;D2S2888;RH36905;SHGC-83748;STS-AA029429 KIAA1609;MGC25024 TBC/LysM-associated domain-containing protein 1;TLD domain containing 1;TLD domain-containing protein 1;TLD domain-containing protein KIAA1609;hypothetical protein LOC57707 APPROVED protein-coding ENSG00000140950 HGNC:29325 13877 VALIDATED 4891172 TLE1P1 transducin-like enhancer of split 1 pseudogene 1 X X X q12 64974781 64975365 + 64627957 64628541 + 65408077 65408661 + 645381 ABBA01067007;AMYH02039609;NG_022665;Z83841 1729361 G64103 pseudo HGNC:39438 INFERRED 1319465 TLE1 transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) ENCODES a protein that exhibits identical protein binding; RNA polymerase II transcription corepressor activity; transcription factor binding; INVOLVED IN negative regulation of anoikis; negative regulation of I-kappaB kinase/NF-kappaB signaling; negative regulation of transcription, DNA-templated; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; cytosol; nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 9 9 9 q21.32 54775348 54880350 - 84198598 84303596 - 81583683 81689344 - 1580863;6480464;8554872 10209158;10660609;10748198;11238932;11551980;11731482;11748221;12030375;12057191;12391155;12397081;12441302;12477932;1303260;14651967;15006356;15164053;15187083;15489334;15768032;16002402;16166252;16169070;16571670;17041588;17255769;17353931;17680780;18258796;18519670;18611861;18713067;19101520;19250647;19363472;19809272;19956621;20160071;20181723;20211142;20379614;20844743;21319215;21536917;21666599;21699783;21890473;21900206;21988832;22053931;22354967;22439931;22589738;22745009;22952044;23197007;23287123;23333304;23775085;24422953;24487024;24596249;8365415;8687460;8713081;8808280;9334241;9751710;9854018;9874198;9887105 7088 Q04724;Q5T3G2;Q5T3G3;Q5T7A9 AB209854;ABBA01033971;ABBA01033972;ABBA01033973;ABBA01033974;ABBA01033975;AK290860;AK293606;AK304565;AL353682;AL365190;AMYH02021080;AY129016;BC000228;BC010100;BC015747;CH471089;M99435;NM_005077;XM_005252151;XM_005252152;XM_005252153;XM_005252154;XM_005252155;XM_005252156;XM_005252162;XM_005252163;XM_006717258;XM_006717259;XM_006717260;XM_006717261;XM_006717262;XM_006717263 AAA61192;AAH10100;AAH15747;AAM98759;ABM84199;ABM87603;ACE86540;ACE87220;BAD93091;BAF83549;BAG57070;BAG65357;EAW62636;EAW62637;NP_005068;Q04724;XP_005252208;XP_005252209;XP_005252210;XP_005252211;XP_005252212;XP_005252213;XP_005252219;XP_005252220;XP_006717321;XP_006717322;XP_006717323;XP_006717324;XP_006717325;XP_006717326 Hs.197320;Hs.689805 1645181;1664775;1703352;1722281;1736692;1778901;1798278;2120111;2182028;2189441;5015881;5019070;5020946;5022200;5037554 A001X07;D1S2077E;D8S2282;G44334;G60053;GDB:335751;L17971;L18426;MARC_6203-6204:992007078:5;SHGC-57364;SHGC-68608;TLE1_1890;WI-11585;WI-12646;WIAF-2165 ESG;ESG1;GRG1 OTTHUMP00000022733;e(Sp1) homolog;enhancer of split groucho 1;enhancer of split groucho-like protein 1;transducin-like enhancer of split 1, homolog of Drosophila E(sp1);transducin-like enhancer protein 1 protein-coding ENSG00000196781 HGNC:11837 02557 600189 PROVISIONAL 1315408 TLE2 transducin-like enhancer of split 2 ENCODES a protein that exhibits transcription corepressor activity; INVOLVED IN negative regulation of canonical Wnt signaling pathway; negative regulation of transcription, DNA-templated; FOUND IN extracellular space; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; arsenous acid 19 19 19 p13.3 2931704 2981680 - 2997636 3047846 - 2997638 3047635 - 1580863;6480464 10825294;11266540;11748221;12477932;1303260;14702039;15057824;15489334;15768032;17041588;19460168;19939918;20211142;21890473;22053931;24654937;24816145;8365415;8808280;9334241;9854018;9874198;9887105 7089 B4DE62;K7EJR7;K7EK93;K7EMK7;K7EPD4;K7EPF3;K7ESD8;Q04725 ABBA01002784;ABBA01002785;ABBA01002786;ABBA01002787;ABBA01002788;ABBA01002789;ABBA01002790;ABBA01002791;ABBA01002792;ABBA01002793;AC007766;AC011549;AC093053;AK123183;AK293407;AK293482;AK303102;AK308137;AK308608;AK312285;AMYH02035229;AMYH02035230;AMYH02035231;AMYH02035232;AMYH02035233;AMYH02035234;AW262763;BC017364;CH471139;HY046309;HY140405;M99436;NM_001144761;NM_001144762;NM_001300846;NM_003260;XM_005259636;XM_005259637;XM_006722864 AAA61193;AAD38075;AAH17364;ADZ15545;BAG56914;BAG56973;BAG64211;EAW69348;EAW69349;NP_001138233;NP_001138234;NP_001287775;NP_003251;Q04725;XP_005259693;XP_005259694;XP_006722927 Hs.332173 1770453;1776133;2110243;2118092;5093656 A009U26;AES_7743;G32846;RH69316;STS-AA037755 ESG;ESG2;FLJ41188;GRG2 enhancer of split groucho 2;enhancer of split groucho-like protein 2;transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila);transducin-like enhancer of split 2, homolog of Drosophila E(sp1);transducin-like enhancer protein 2 APPROVED protein-coding ENSG00000065717 HGNC:11838 03025 601041 VALIDATED 1351900 TLE3 transducin-like enhancer of split 3 This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] 15 15 15 q22 47229949 47279848 - 70340129 70390274 - 70047790 70097935 - 1580863;6480464 10748198;10997877;11238932;12397081;12441302;12477932;1303260;14702039;15302935;15342556;15489334;16055720;16964243;17041588;17081983;17220478;17353931;17577209;18273443;20181723;20881960;21139048;21666599;21832049;21890473;22050093;22053931;22194527;22863883;22939629;23000965;23602568;23862649;23932459;24444608;24816145;8365415;8808280;8889548 7090 B3KM67;B3KUA2;F5H7D6;H0YKH0;H0YKH5;H0YKN8;H0YKT5;H0YL70;H0YLI3;H0YLW9;H0YNI7;H0YNT2;H3BUH5;Q04726;Q672R2;Q6PRX2;Q6PRX3 AB046767;AB209672;ABBA01038763;ABBA01038764;AC026583;AC068327;AK000083;AK001258;AK096779;AK298482;AK304459;AK315058;AMYH02030705;AY583459;AY583460;BC012004;BC015421;BC015729;BC041831;BC043247;BM676381;BP373048;CH471082;M99438;NM_001105192;NM_001282979;NM_001282980;NM_001282981;NM_001282982;NM_005078;NM_020908;XM_005254622;XM_005254623;XM_005254625;XM_005254628;XM_005254633;XM_006720662;XM_006720663;XM_006720664;XM_006720665 AAA61194;AAH41831;AAH43247;AAS90945;AAS90946;BAB13373;BAD92909;BAG50879;BAG53364;BAG60692;BAG65275;EAW77848;EAW77849;EAW77850;EAW77851;NP_001098662;NP_001269908;NP_001269909;NP_001269910;NP_001269911;NP_005069;NP_065959;Q04726;XP_005254679;XP_005254680;XP_005254682;XP_005254685;XP_005254690;XP_006720725;XP_006720726;XP_006720727;XP_006720728 Hs.287362 1683577;2135134;5127710 RH66842;RH93831;WI-10764 ESG;ESG3;FLJ39460;GRG3;HsT18976;KIAA1547 enhancer of split groucho 3;enhancer of split groucho-like protein 3;transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila);transducin-like enhancer of split 3, homolog of Drosophila E(sp1);transducin-like enhancer protein 3 APPROVED protein-coding ENSG00000140332 HGNC:11839 02558 600190 REVIEWED 733230 TLE4 transducin-like enhancer of split 4 ENCODES a protein that exhibits chromatin binding (inferred); repressing transcription factor binding (inferred); RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); Notch signaling pathway (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 9 9 9 q21.31 52764232 52919003 + 82186878 82341658 + 79571773 79726882 + 1580863;6480464;8554872 10574462;10811620;11266540;12153506;12477932;1303260;14702039;15105370;15164053;15302935;16002402;16103132;17060451;18258796;19332113;19714205;19893608;20816195;20889853;21139048;21254220;21890473;21948523;22053931;22169276;22927467;22990118;23602568;24099773;8365415 7091 B3KQ29;E7EQH3;F8WAY5;G8JLG4;H0Y5S0;H7C4E4;H7C4P7;H7C4W5;O60756;Q04727;Q5JSY7;Q5JSY8;Q5JSZ1;Q5JSZ2 AB033087;ABBA01033958;ABBA01033959;AF068197;AI279314;AI620368;AK057236;AK296342;AK302709;AL162059;AL353813;AL358975;AL445252;AMYH02021062;AMYH02021063;AMYH02021064;BC036369;BC045650;BC059405;BC060038;BC063695;BQ006122;CH471089;HQ283388;M99439;NM_001282748;NM_001282749;NM_001282753;NM_001282760;NM_007005;NR_104239;W68064;XM_005252167;XM_005252169;XM_005252173;XM_005252174;XM_005252175;XM_005252177;XM_006717264;XM_006717265;XM_006717266;XM_006717267;XM_006717268;XM_006717269;XM_006717270 AAA61195;AAC18942;AAH45650;AAH59405;BAA86575;BAG51891;BAG59027;BAG63931;CAB82397;EAW62627;EAW62628;EAW62629;EAW62630;EAW62631;EAW62632;NP_001269677;NP_001269678;NP_001269682;NP_001269689;NP_008936;Q04727;XP_005252224;XP_005252226;XP_005252230;XP_005252231;XP_005252232;XP_005252234;XP_006717327;XP_006717328;XP_006717329;XP_006717330;XP_006717331;XP_006717332;XP_006717333 Hs.444213 1667559;1724719;1787112;1798280;2164350;2165820;2177085 G17366;RH122563;RH44484;RH78181;SHGC-155150;STS-N23632;TLE4_2138 BCE-1;BCE1;E(spI);ESG;ESG4;GRG4 B lymphocyte gene 1;OTTHUMP00000216175;OTTHUMP00000216177;OTTHUMP00000216236;enhancer of split groucho 4;transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila);transducin-like enhancer of split 4, e(spl) homolog (drosophila);transducin-like enhancer of split 4, homolog of Drosophila E(sp1);transducin-like enhancer protein 4 APPROVED protein-coding ENSG00000106829 HGNC:11840 605132 VALIDATED 1343822 TLE6 transducin-like enhancer of split 6 INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN cell cortex (inferred); nucleus (inferred); protein complex (inferred); INTERACTS WITH phenobarbital; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 p13.3 2911604 2929249 + 2977536 2995182 + 2977538 2995184 + 1580863;6480464 11486032;12477932;14702039;15489334;16344560;18551179;21988832;24356439 79816 C9J532;K7ENW8;Q6PJM9;Q9H808 ABBA01002783;ABBA01002784;AC006277;AC007766;AK024071;AK308771;AMYH02035226;AMYH02035227;AMYH02035228;AMYH02035229;BC007215;BC007329;BC013986;BC020206;BC068052;BX089956;CH471139;DA013757;DB059462;KF456470;NM_001143986;NM_024760;XM_005259645 AAD38076;AAH07215;AAH13986;AAH20206;BAB14815;EAW69350;EAW69351;EAW69352;EAW69353;NP_001137458;NP_079036;Q9H808;XP_005259702 Hs.334507 FLJ14009;GRG6;MGC14966 OTTHUMP00000210615;OTTHUMP00000210687;OTTHUMP00000210846;transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila);transducin-like enhancer protein 6 APPROVED protein-coding ENSG00000104953 HGNC:30788 18195 612399 VALIDATED 3207461 TLK1P1 tousled-like kinase 1 pseudogene 1 9 9 9 q33.2 96096537 96099028 + 125448219 125450710 + 122685940 122688431 + 100129793 ABBA01043717;AL162254;AMYH02021592;NG_021465 TLK1P;TLK1ps pseudo HGNC:28608 INFERRED 1321237 TLK1 tousled-like kinase 1 The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 2 2 2 q31.1 165463993 165633992 - 171847333 172087824 - 170990823 171231314 - 1580863;6480464;8554872 10523312;10588641;11314006;11470414;12168954;12477932;12660173;12955071;14702039;14732354;15302935;15489334;15950181;16156902;16189514;16344560;17054786;17081983;17353931;17940067;18029348;18838128;19322201;20016786;20360068;20381954;20936779;21048794;21139048;21647934;21988832;22267201;22939629;23000965;24376897;24816145;8274451;8590280;9427565 9874 B3KRP1;C9JWT6;F8W7X8;Q9UKI8 AB004885;ABBA01014922;ABBA01014923;ABBA01014924;ABBA01014925;ABBA01014926;AC007739;AC009953;AC010092;AF162666;AF246219;AK090779;AK091975;AK292508;AK301857;AMYH02005216;AMYH02005217;AMYH02005218;AMYH02005219;BC032657;BX537631;CH471058;D50927;DA144429;DN604386;NM_001136554;NM_001136555;NM_012290;XM_005246981;XM_006712883;Z25421 AAF03094;AAF71263;AAH32657;AAX93162;AAY15077;ABM81830;ABM84983;BAA09486;BAA20562;BAF85197;BAG52227;BAG52453;BAG63299;CAA80908;EAX11220;EAX11221;EAX11222;EAX11223;NP_001130026;NP_001130027;NP_036422;Q9UKI8;XP_005247038;XP_006712946 Hs.744917 1340259;1678961;1699784;1774417;1850939;2108571;2143174;2152269;2158589;2183671;2184008;2185054;5037552 D11S4137;D2S2078;D2S2766;D8S2279;HSC2NH052;RH103499;RH25360;RH36431;RH65920;SHGC-37354;SHGC-37490;TLK1_8169;WI-18511 KIAA0137;PKU-beta OTTHUMP00000163076;OTTHUMP00000163077;OTTHUMP00000205037;OTTHUMP00000225037;SNARE protein kinase SNAK;serine threonine protein kinase;serine/threonine-protein kinase tousled-like 1 APPROVED protein-coding ENSG00000198586 HGNC:11841 608438 REVIEWED 1322082 TLK2 tousled-like kinase 2 This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 17 17 17 q23 54943227 55080744 + 60554447 60692842 + 62477090 62615481 + 6480464;8554872 10455159;10523312;11470414;12477932;12660173;15302935;15489334;16484223;17353931;17940067;18976975;19322201;20016786;20056645;20360068;20379614;21139048;21647934;21903422;21906983;22939629;23414760;23455922;24816145;8889548;9427565 11011 B4DUC2;J3KRK0;J3KST4;J3KT82;J3QLK5;J3QQN4;J3QR10;J3QS44;J3QS73;Q86UE8 AA430024;AB004884;ABBA01035343;ABBA01035344;ABBA01035345;ABBA01035346;ABBA01035347;ABBA01035348;ABBA01035349;ABBA01035350;AC008026;AC080038;AF162667;AI381985;AI621235;AK300586;AMYH02033762;AMYH02033763;AX775745;BC013736;BC044925;BC060511;BM668399;BX647225;CH471109;NM_001284333;NM_001284363;NM_006852;XM_005256969;XM_005256970;XM_005256971;XM_005256973;XM_005256974;XM_005256975;XM_006721647;XM_006721648;XM_006721649 AAF03095;AAH44925;BAA20561;BAG62284;CAE11572;EAW94343;EAW94344;EAW94345;EAW94346;EAW94347;EAW94348;EAW94349;NP_001271262;NP_001271292;NP_006843;Q86UE8;XP_005257026;XP_005257027;XP_005257028;XP_005257030;XP_005257031;XP_005257032;XP_006721710;XP_006721711;XP_006721712 Hs.445078 1337712;1681728;1682221;1683669;1684979;1685011;1693512;1852812;2108573;2123549;2134819;2161146;2174994;2176141;5024567;5093708;5119300 AFM238yf8;D17S1771;D17S2036;D17S808;D7S1989;D7S2954;G32877;G36093;RH16229;RH27062;RH47409;RH67569;RH91600;SHGC-33605;SHGC-57386;SHGC-58493;TLK2_8170 HsHPK;MGC44450;PKU-ALPHA serine/threonine kinase;serine/threonine-protein kinase tousled-like 2 APPROVED protein-coding ENSG00000146872 HGNC:11842 10527 608439 REVIEWED 1625821 TLK2P1 tousled-like kinase 2 pseudogene 1 17 17 17 q12 29275298 29278737 - 32363723 32367162 - 34036704 34040141 - 646202 ABBA01011210;AC123769;AMYH02033335;NG_006102;NG_029763 1680918;1682221;2108573;5093708 G32877;RH28431;RH67569;TLK2_8170 TLK2ps1 pseudo HGNC:18048 INFERRED 1625805 TLK2P2 tousled-like kinase 2 pseudogene 2 10 10 10 p11.1 37878322 37880698 - 38107534 38109910 - 37818606 37820982 - 553121 ABBA01033296;AL135791;AMYH02022657;NG_006100 TLK2ps2 pseudo HGNC:22227 INFERRED 1312462 TLL2 tolloid-like 2 This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008] 10 10 10 q23-q24 91865556 92016000 - 98124363 98273683 - 96364606 96513926 - 1580863;6480464;8554872 10231032;10479448;10516436;10806368;11076863;11313359;12477932;15164054;15489334;16344560;16385451;18824173;18839057;23777486 7093 Q9Y6L7 AB023149;ABBA01021829;ABBA01021830;AF059516;AK026106;AL136181;AL138765;AL391136;AMYH02023589;AMYH02023590;AMYH02023591;AMYH02023592;AW452288;BC013871;BC030548;BC112341;BC112366;BC113577;CH471066;DA716349;NM_012465 AAD42979;AAH13871;AAI11600;AAI12342;AAI12367;AAI13578;BAA76776;EAW49975;EAW49976;NP_036597;Q9Y6L7 Hs.154296 1721087;1726407;1765227;2132455 D10S1257;G59526;G62504;SHGC-148720 KIAA0932;MGC133312;MGC133313 OTTHUMP00000020172;tolloid-like protein 2 APPROVED protein-coding ENSG00000095587 HGNC:11844 05993 606743 VALIDATED 1314756 TLN1 talin 1 This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. [provided by RefSeq, Feb 2009] 9 9 9 p13 35630882 35665942 - 35697334 35732392 - 35697337 35732395 - 1580863;2300340;6480464;6484113;7349373;8554872 18363565;23860236 10320340;10393080;10470851;10497223;10581178;10610730;10806106;10827173;11113628;11279249;11336656;11382782;11932255;12119179;12168954;12422220;12473654;12477932;12571287;12606711;12665801;12695497;1439807;14581461;14627618;14630798;15031296;15070891;15161933;15489334;15494027;15581353;15592455;15728584;15983060;15988023;16005629;16273093;16407302;16546176;16581250;17430904;17591693;17591777;17597073;17722883;18029348;18056416;18156175;18341635;18342854;19056867;19148538;19363486;19437340;19608030;19738201;19903453;19952892;20160039;20360068;20488542;20665668;20811636;20947017;20947018;21139048;21291860;21319273;21454358;2150484;21693764;21720550;21763488;21822214;21846996;21890473;21911599;22017400;22045736;22053931;22075696;22270917;22471464;22505724;22586326;22623428;22648415;22863883;22939629;22964303;23000965;23022222;23204516;23266827;23479679;23572508;23722670;23862649;23886189;23967269;24136115;24337577;24452377;24816145;24891603;6457647;7534286;7622520;7635475;8609175;8631894;8635876;8641358;8663236;9054445;9442086 7094 Q9Y490 AB028950;ABBA01064987;AF078828;AF113217;AF177198;AF178534;AL133410;AMYH02019463;AMYH02019464;BC020881;BC042923;CH471071;NM_006289;XM_005251564;XM_006716852;Z50170 AAD13152;AAF23322;AAF27330;AAG39288;AAH42923;BAA82979;EAW58352;EAW58353;NP_006280;Q9Y490;XP_005251621;XP_006716915 Hs.471014 1850883;2112830;5015961;5024756;5115712 D15S1477;D9S2129E;RH80030;TLN1;WI-14287 KIAA1027;TLN ILWEQ;OTTHUMP00000021350;talin-1 APPROVED protein-coding ENSG00000137076 HGNC:11845 01726 186745 REVIEWED 1314549 TLL1 tolloid-like 1 This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 4 4 4 q32-q33 164129812 164360405 + 166794390 167026330 + 165873238 166105178 + 1580863;6480464;7240710;8554872;8699517 10479448;10516436;10896944;11313359;12477932;14702039;15489334;16507574;18824173;18830233;19723501;20043912;20379614;21832049;21911782;21963094;22883091;23251661;23412934;23726511;8661043 7092 B7ZLW3;D6RAK5;D6RBI6;D6RCE0;E9PD25;O43897 ABBA01070297;ABBA01070298;ABBA01070299;ABBA01070300;AC093874;AC097502;AC097507;AF282732;AK021908;AMYH02010444;AMYH02010445;BC016922;BC136429;BC136430;BC144084;BC144085;BU753788;CH471056;KF457831;NG_016278;NM_001204760;NM_012464;U91963;XM_005263192;XM_006714293 AAB93878;AAF86287;AAH16922;AAI36430;AAI36431;AAI44086;EAX04813;NP_001191689;NP_036596;O43897;XP_005263249;XP_006714356 Hs.106513 1338504;1669337;1686500;1696322;1714583;2135185;2151375;2170318;2218828 D4S1566;D4S3302;RH119805;SHGC-50239;SHGC-59625;SHGC-59832;SHGC-77747;SHGC4-721;TLL1__5268 ASD6;TLL OTTHUMP00000219730;OTTHUMP00000219732;OTTHUMP00000219733;tolloid-like protein 1 APPROVED protein-coding ENSG00000038295 HGNC:11843 07074 606742;613087 REVIEWED 1350417 TLN2 talin 2 This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008] 15 15 15 q15-q21 39819286 40016441 + 62682769 63136830 + 62390570 62844631 + 1580863;6480464;7349373;8554872 23860236 10320934;11527381;11907066;12119179;12168954;12422219;12422220;15174051;15302935;15494027;15581353;16964243;17081983;17183545;19109932;19952892;20197096;20360068;20379614;20620133;21134644;21139048;21697133;21812955;21890473;22017400;22939629;23000965;23266827;23728906;24515614;24816145;8619474;9110174;9205841 83660 H0YMT1;H0YN01;Q9Y4G6 AB002318;AB304389;AB304390;AB304391;AB304392;AB304393;AB304394;AB304395;AB621808;ABBA01038922;ABBA01038923;ABBA01038924;ABBA01038925;AC011927;AC032011;AC068233;AC100839;AC103740;AF007154;AF070527;AF085910;AF402000;AK294570;AL122065;AMYH02030574;AMYH02030575;AMYH02030576;BX647654;BX648144;BX648146;CH471082;KF456064;NG_033932;NM_015059;XM_005254707;XM_005254708;XM_005254710;XM_005254711;XM_005254712;XM_005254713;XM_005254714;XM_005254715;XM_006720716;XM_006720717;XM_006720718;XM_006720719;XM_006720720;XM_006720721 AAM73764;BAA20778;BAG57764;BAK64144;EAW77615;EAW77616;EAW77617;NP_055874;Q9Y4G6;XP_005254764;XP_005254765;XP_005254767;XP_005254768;XP_005254769;XP_005254770;XP_005254771;XP_005254772;XP_006720779;XP_006720780;XP_006720781;XP_006720782;XP_006720783;XP_006720784 Hs.569438;Hs.610975 1736514;1736516;1767173;1779700;1849465;1853778;2136421;2147389;2148601;2162339;2171772;2171774;2218830 A001V22;A002V12;D15S635E;D15S721E;D15S724E;G19684;RH47491;RH66673;RH78027;SHGC-153677;STS-R99089;TLN2__5270;WI-18550 DKFZp451B1011;DKFZp686I0976;DKFZp686K0979;KIAA0320 ILWEQ;OTTHUMP00000165050;talin-2 APPROVED protein-coding ENSG00000171914 HGNC:15447 09555 607349 REVIEWED 1323096 TLR10 toll-like receptor 10 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2010] 4 4 4 p14 39213490 39223937 - 38773860 38784611 - 38772239 38782990 - 1580863;4889528;6480464;8554872 18547625 11267672;11561001;11782555;11970999;12477932;12689944;12975309;14625308;15201134;15276183;15342556;15489334;15728506;15812078;16024789;16344560;16482509;16537705;16702361;17703412;17932345;18091991;18332149;18394314;18686608;18752252;18776592;18810425;19029192;19247692;19254290;19258923;19332998;19406482;19423540;19505919;19573080;19773279;19924287;20227302;20237496;20348427;20406964;20422193;20438785;20444155;20453000;20503287;20568250;20595247;20800603;20815312;20877634;20953797;20977567;21499082;21716313;22150367;22342453;22504414;22703024;23124277;23151486;23279063;23370977;23652523;23817569;23817571;24198280;24567377;9435236 81793 D6RHW6;Q9BXR5 AB445680;ABBA01004114;AC108044;AC118137;AF296673;AK292026;AK313468;AMYH02009040;AW504309;AY358300;BC089406;BC109111;BC109112;BP383038;CH471069;DA213264;DA312129;DA643313;DB226380;DQ011502;DQ011503;DQ011504;DQ011505;DQ011506;DQ011507;DQ011508;DQ011509;DQ011510;DQ011511;DQ011512;DQ011513;DQ011514;DQ011515;DQ011516;NM_001017388;NM_001195106;NM_001195107;NM_001195108;NM_030956;XM_006714031;XM_006714032 AAH89406;AAI09112;AAI09113;AAK26744;AAQ88667;AAY78477;AAY78478;AAY78479;AAY78480;AAY78481;AAY78482;AAY78483;AAY78484;AAY78485;AAY78486;AAY78487;AAY78488;AAY78489;AAY78490;AAY78491;BAF84715;BAG55077;EAW92897;EAW92898;EAW92899;EAW92900;NP_001017388;NP_001182035;NP_001182036;NP_001182037;NP_112218;Q9BXR5;XP_006714094;XP_006714095 Hs.120551;Hs.730896 1690872;5037552 D8S2279;RH93625 CD290;MGC104967;MGC126398;MGC126399 OTTHUMP00000158729;OTTHUMP00000218160;OTTHUMP00000218161;OTTHUMP00000218162 APPROVED protein-coding ENSG00000174123 HGNC:15634 05884 606270 REVIEWED 1352317 TLR11 toll-like receptor 11 7246909 18256364 15001781 442887 HGNC:31753 1343448 TLR12P toll-like receptor 12, pseudogene INTERACTS WITH 4,4'-diaminodiphenylmethane (ortholog); furan (ortholog); phenobarbital (ortholog) 1 1 1 p35.1 32203669 32206395 + 33931850 33934576 + 33466249 33468975 + 6480464 14993594;15976025;20210993 100131451 ABBA01023376;AL138837;AMYH02000735;NG_016733 APPROVED pseudo HGNC:31754 INFERRED 1348322 TLR13 toll-like receptor 13 14993594 442889 HGNC:31755 1320607 TLR1 toll-like receptor 1 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p14 2245 3443 - 38797876 38806814 - 38796255 38805193 - 1580863;4889525;4889528;4889535;1643119;5685014;6480464;6907045;5128779;7240710;7246917;7246898;7246918;7246909;7246886;7246906;7246916;8554872 16461792;16493059;16973131;17548585;18091991;18256364;18547625;19543401;19608731;21108742;21235323;21618349;21970496 10426995;10820283;11081518;11095740;11230166;11561001;11584270;11607792;11782555;11932926;12077222;12091878;12477932;12600829;12975352;14966134;15340161;15489334;15728506;15790341;15793154;15812078;16002719;16081826;16177110;16374251;16455995;16482509;16537705;16848791;16880211;16893894;16971956;17172927;17202359;17314700;17395901;17475868;17595233;17595679;17703412;17889651;17932345;18006661;18056480;18292749;18394314;18451040;18461142;18474641;18635889;18684966;18686608;18752252;18776592;18810425;19029192;19200604;19254290;19258923;19423540;19456232;19503839;19505919;19573080;19627277;19771452;19773279;19818630;19924287;19931471;20016852;20100933;20207250;20227302;20348427;20406964;20438785;20448286;20452482;20453000;20459687;20478407;20497180;20503287;20554749;20560984;20568250;20595247;20616560;20617178;20650298;20673868;20797905;20800603;20815312;20819670;20977567;21048031;21048935;21078852;21105983;21642391;21646294;21852947;21952587;21998742;22150367;22200569;22219617;22238472;22246581;22280448;22301633;22447933;22703024;22842950;22998942;23067142;23151486;23255565;23403223;23430250;23478521;23547143;23575331;23626692;23652523;23743675;23817569;23817571;24240055;24388013;24440818;24511099;7584026;7584028;8838819;9435236 7096 D6RA99;D6RAP2;D6RCE8;D6RF68;Q15399 AB445617;ABBA01004114;AC108044;AK292982;AL050262;AMYH02009040;AW408740;BC089403;BC109093;BC109094;BU623316;CH471069;CR533562;D13637;DQ012254;DQ012255;DQ012256;DQ012257;DQ012258;DQ012259;DQ012260;DQ012261;DQ012262;DQ012263;DQ012264;NG_016228;NM_003263;U88540;XM_005262662;XM_005262663;XM_005262665;XM_005262666;XM_006714028 AAC34137;AAH89403;AAI09094;AAI09095;AAY85633;AAY85634;AAY85635;AAY85636;AAY85637;AAY85638;AAY85639;AAY85640;AAY85641;AAY85642;AAY85643;BAA02801;BAF85671;BAG55014;CAB43364;CAG38593;EAW92901;NP_003254;Q15399;XP_005262719;XP_005262720;XP_005262722;XP_005262723;XP_006714091 Hs.621817;Hs.654532 1657127;1791848;1798282;2115579 D4S3156;PMC128073P2;SHGC-59520;TLR1_1664.2 CD281;DKFZp547I0610;DKFZp564I0682;KIAA0012;MGC104956;MGC126311;MGC126312;TIL;TIL. LPRS5;rsc786 OTTHUMP00000218158;OTTHUMP00000218173;OTTHUMP00000218174;OTTHUMP00000218175;OTTHUMP00000218186;toll/interleukin-1 receptor-like protein APPROVED protein-coding ENSG00000174125 HGNC:11847 03119 601194;613223 REVIEWED 1343581 TLR3 toll-like receptor 3 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q35 184312848 184328791 + 186990309 187006252 + 186059050 186085098 + 1580863;5129130;5129228;5129221;5129136;5128769;5128688;5128706;5128779;5129476;5128798;5129133;5129134;5129232;5128695;5129216;5129219;5128693;5128708;5129224;5129478;5129493;5129102;5129226;5129475;5128500;1643119;5685014;6480464;6907045;7240710;8552913;8552916;8552883;8552827;7794852;8554872 14987294;15661832;16029432;16146574;16424225;16453294;16789835;16973131;17434873;17610940;18097050;18363823;18654661;18849495;19009529;19608731;19752565;19779466;20011045;20473890;20500834;20638911;20935192;21129050;21235323;21342497;21355876;21364926;21848608;23372055;23908180;23946637 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7098 D6RA51;O15455 AB445631;ABBA01070544;AC104070;AK302143;AK314208;AMYH02010672;BC017954;BC043204;BC059372;BC068487;BC094737;BC096333;BC096334;BC096335;BU624267;CH471056;CS441680;DA374150;DQ360814;DQ360815;DQ360816;DQ445682;DQ470075;DQ470076;DQ470077;DQ470078;DQ470079;GM869032;NG_007278;NM_003265;U88879;XM_006714294 AAC34134;AAH59372;AAH94737;AAH96333;AAH96334;AAH96335;ABC86908;ABC86909;ABC86910;ABE01399;ABF06633;ABF06634;ABF06635;ABF06636;ABF06637;BAG36884;BAG55028;BAH13636;CAL68868;CAT16976;EAX04628;EAX04629;NP_003256;O15455;XP_006714357 Hs.657724 1791852;2180783;5015961;5037552;5093196 A009J16;D15S1477;D8S2279;G32577;PMC128073P4 CD283;IIAE2 OTTHUMP00000218073 APPROVED protein-coding HGNC:11849 04324 603029;609423 REVIEWED 1353654 TLR2 toll-like receptor 2 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is expressed most abundantly in peripheral blood leukocytes, and mediates host response to Gram-positive bacteria and yeast via stimulation of NF-kappaB. 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7097 B3KWR9;O60603 AB445624;ABBA01070142;AC106865;AF051152;AF424049;AF424051;AF424052;AF424053;AF502291;AK125659;AMYH02010323;AW614989;BC033756;BI769109;CH471056;DQ012265;DQ012266;DQ012267;DQ012268;DQ012269;DQ012270;DQ012271;NG_016229;NM_003264;U88878;XM_005263193;XM_005263194;XM_005263195;XM_005263196;XM_005263197 AAC34133;AAC34377;AAH33756;AAM23001;AAY85644;AAY85645;AAY85646;AAY85647;AAY85648;AAY85649;AAY85650;ABM84931;ABW03649;BAG54231;BAG55021;EAX04952;EAX04953;NP_003255;O60603;XP_005263250;XP_005263251;XP_005263252;XP_005263253;XP_005263254 Hs.519033 1645395;1695084;1791850;1793192;1794752;1794776;1795098;1795108;1795112;1795118;1797066;2107673;2128756;2133266;2157416;2174229;5017520 AF368419;D4S575;D4S660;D4S841;G34296;PMC128073P3;PMC201071P1;PMC37511P1;PMC55404P2;PMC97725P1;PMC98129P1;PMC98226P1;PMC98510P1;SHGC-33147;SHGC4-1535;TLR2;TLR2_1084.2 CD282;TIL4 toll/interleukin 1 receptor-like 4;toll/interleukin-1 receptor-like protein 4 APPROVED protein-coding HGNC:11848 04323 114500;246300;603028;607948 REVIEWED 1348706 TLR5 toll-like receptor 5 This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009] 1 1 1 q41-q42 196502104 196535977 - 223282748 223316624 - 223109406 223143282 - 1580863;5129510;5129679;5129477;5129511;5129497;5129499;5129503;5128779;5130865;4142862;5129506;5129557;1643119;5685014;6480464;6907045;7240710;7794744;7246906;7246909;7814374;8554872;8662876 12763043;14623910;16973131;17676990;17982089;18155283;18256364;18684966;19258923;19543401;19608731;19801452;20529359;20566829;20952467;21068401;21235323;23033384;23287987 10072432;10426995;10513806;10677315;10820283;11323673;11561001;11782555;11953430;12185085;12477932;12600829;12702497;12734364;12794153;12925853;12933896;14607814;14625308;14707135;15067088;15069060;15107846;15135456;15276183;15302888;15340161;15489334;15685542;15731050;15747241;15956202;16024789;16027372;16044857;16179598;16239509;16284379;16339542;16439468;16470719;16482509;16644730;16670329;16897777;16971956;17128265;17283206;17442957;17516623;17587322;17703412;18167552;18213697;18314303;18325643;18394314;18490781;18538140;18590761;18680520;18686608;18776592;18809506;18810425;19067129;19120490;19134113;19150884;19179655;19447460;19473567;19505919;19593445;19616328;19620771;19638314;19758322;19786303;19828626;19912257;19913121;19950169;20016852;20056178;20083854;20100933;20130217;20154223;20164175;20194452;20196781;20227302;20364327;20379614;20452482;20452988;20456615;20463618;20483744;20503287;20595247;20604744;20626741;20628086;20656790;20673868;20677014;20855887;20953381;20977567;21067314;21109746;21204905;21237205;21455558;21455638;21573018;21714724;21721932;21949773;21994405;22058078;22173220;22250084;22661088;22703024;22855713;22994872;23064463;23068105;23104900;23121969;23261530;23333304;23437263;23447684;23455496;23526294;23534905;23593463;23624387;23666857;23844139;23862689;23867959;24128895;24154872;24221343;24447081;24549739;24709011;9045876;9435236;9596645;9843982;9843983 7100 B1AZ06;O60602 AB060695;AB445645;ABBA01006367;AF051151;AI628024;AL359979;AL929091;AMYH02002753;BC109118;BC109119;BQ025528;CH471100;DB448079;FJ556980;FJ556987;KF455144;NG_016244;NM_003268;U88881;XM_005273241;XM_005273242;XM_005273243;XM_006711503;XM_006711504;XM_006711505;XM_006711506;XM_006711507 AAC34136;AAC34376;AAI09119;AAI09120;ACM69023;ACM69030;BAB43955;BAG55042;EAW93262;EAW93263;NP_003259;O60602;XP_005273298;XP_005273299;XP_005273300;XP_006711566;XP_006711567;XP_006711568;XP_006711569;XP_006711570 Hs.604542 1791856;1796956 PMC128073P6;TLR5_1375 FLJ10052;MGC126430;MGC126431;SLE1;SLEB1;TIL3 MELIOS;OTTHUMP00000036039;OTTHUMP00000036040;systemic lupus erythematosus susceptibility 1;toll/interleukin-1 receptor-like protein 3 APPROVED protein-coding ENSG00000187554 HGNC:11851 04326 601744;603031;608556;615557 REVIEWED 1344850 TLR6 toll-like receptor 6 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011] 4 4 4 p14 39263872 39296634 - 38825325 38858438 - 38823704 38856817 - 1580863;4889532;4889539;4889537;4889528;4889533;4145352;4889538;4889534;4889535;1643119;5685014;5684896;6480464;6907045;7246909;8554872 15266299;16154916;16461792;16973131;18256364;18353287;18547625;19019963;19844782;20016195;20070409;20815312;21235323 10231569;10426995;11081518;11095740;11123271;11431423;11441107;11561001;11607792;11686851;11782555;11970999;12077222;12477932;12724322;14625308;14706104;14966134;15661917;15812078;16024789;16081826;16177110;16188043;16344560;16374251;16482509;16537705;16648973;16880211;17595233;17651447;17703412;17827388;17932345;17934735;18056480;18091991;18159247;18325643;18394314;18424724;18451040;18686608;18752252;18776592;18810425;19029192;19172872;19200604;19247692;19254290;19258923;19378782;19423540;19458089;19505919;19543380;19543401;19573080;19771452;19773279;19931471;20037584;20056792;20100933;20200442;20207250;20224557;20227302;20237496;20348427;20402822;20406964;20438785;20445564;20448286;20452482;20453000;20503287;20554749;20568250;20595247;20616560;20673868;20713893;20797905;20800603;21048031;21677671;21813774;21852947;22030478;22134717;22150367;22219617;22280448;22703024;22992740;23151486;23255565;23518821;23593431;23626692;23652523;23817569;23817571;23823019;24511099;9435236 10333 B2R933;D6R979;D6RAV7;Q9Y2C9 AB020807;AB445652;ABBA01004114;ABBA01004115;AC108044;AK313618;AMYH02009040;BC111755;BF512068;CH471069;DA619469;EU170528;EU170529;EU170531;EU170532;EU170533;EU170534;EU170536;EU195541;EU195542;EU195543;EU195544;EU195545;EU195546;EU195547;EU195548;EU195550;EU195551;EU195553;EU195554;EU195555;EU195557;JA738605;NG_028087;NM_006068;XM_005262636;XM_005262637 AAI11756;ABW37063;ABW37064;ABW37066;ABW37067;ABW37068;ABW37069;ABW37071;ABY67117;ABY67118;ABY67119;ABY67120;ABY67121;ABY67122;ABY67123;ABY67124;ABY67126;ABY67127;ABY67129;ABY67130;ABY67131;ABY67133;BAA78631;BAG36380;BAG55049;CCF76955;EAW92902;NP_006059;Q9Y2C9;XP_005262693;XP_005262694 Hs.575090;Hs.743572 1791858 PMC128073P7 CD286 OTTHUMP00000158730;OTTHUMP00000218187;OTTHUMP00000218188 APPROVED protein-coding ENSG00000174130 HGNC:16711 05656 605403 REVIEWED 1353456 TLR7 toll-like receptor 7 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Jul 2008] X X X p22.3 16999208 17022486 + 12885202 12908480 + 12867083 12890361 + 1580863;5129471;1643119;5685014;6480464;6907045;7800741;7246905;7246909;7794740 12781911;16973131;18256364;19386802;19944565;21235323;23157229 11022119;11022120;11782555;11909637;11970999;12032557;12045249;12477932;12975309;14625308;15276183;15489334;15695821;15778362;16024789;16025564;16111635;16116638;16188996;16230478;16286015;16446426;16482509;16517754;16623926;16887967;16935934;16973388;17023556;17040905;17075576;17301562;17371961;17512627;17608805;17609264;17698957;17703412;17907191;17956986;17964520;18021446;18088248;18215354;18250417;18385087;18394314;18406377;18431484;18438411;18474259;18535206;18596825;18682521;18686608;18806803;18810425;18818748;18949362;18995892;19019335;19114863;19120473;19129482;19164127;19258923;19265114;19381167;19406482;19452306;19454678;19473567;19505919;19527514;19553637;19564354;19593445;19614650;19740627;19794067;19821521;19841637;19887600;19913121;19915052;19924287;19948975;19954299;20007807;20026744;20042593;20100933;20124101;20190752;20194452;20227302;20237413;20237496;20309865;20390327;20399690;20410486;20412752;20503287;20525845;20559388;20588308;20592251;20595247;20605567;20628086;20733074;20819670;20821041;20832340;20872712;20977567;21037581;21039888;21061265;21092001;21167247;21354862;21396113;21435390;21458848;21515789;21527067;21543762;21677671;21730058;21734241;21844166;21947541;21958189;21977996;21988832;21990957;22022576;22065095;22196370;22210629;22243920;22363482;22423970;22488361;22505023;22525943;22543675;22610069;22684144;22730373;22786773;22787112;22857391;22952664;22952899;23023703;23069256;23150717;23179584;23221735;23316755;23369718;23376919;23382558;23383108;23386618;23425350;23468661;23489702;23523654;23526932;23564191;23636665;23827939;23924358;24046015;24138882;24227841;24269682;24375473;24445780;24447081;24532514;24616506;24719462;24755410;24771848;24813206;24865418;24971541;25034660;25204046;9435236 51284 B2R9N9;Q9NYK1 AB445659;ABBA01071042;ABBA01071043;ABBA01071044;ABBA01071045;ABBA01071046;ABBA01071047;AC003046;AC005859;AF240467;AF245702;AK313858;AMYH02038887;AY358292;BC033651;CH471074;DQ022180;DQ022181;DQ022182;DQ022183;NG_012569;NM_016562 AAF60188;AAF78035;AAH33651;AAQ88659;AAZ99021;AAZ99022;AAZ99023;AAZ99024;ABM82195;ABM85383;BAG36586;BAG55056;EAW98807;NP_057646;Q9NYK1 Hs.659215 1659720;1791860;2163177;5022794;5037552 D8S2279;DXS7724;PMC128073P8;STS-N30597;TLR7 TLR7-like OTTHUMP00000022919;toll-like receptor 7-like APPROVED protein-coding ENSG00000196664 HGNC:15631 02295 300365 REVIEWED 1605396 TLR8 toll-like receptor 8 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008] X X X p22 17038744 17055292 + 12924739 12941288 + 12906620 12923171 + 5129471;1643119;5685014;6480464;6907045;7246909;8554872 16973131;18256364;19386802;21235323 11022119;11022120;11607792;11782555;11909637;12032557;12477932;12724322;12975309;14625308;14976262;15276183;15489334;16008579;16024789;16025564;16111635;16123302;16188996;16286015;16303743;16482509;16737960;16857668;16935934;17023556;17040905;17090647;17301562;17698957;17703412;17724596;17868034;17932028;17964520;18394314;18406377;18431484;18438411;18605904;18682521;18686608;18810425;18818748;18927625;18942751;18985439;18985539;19017992;19019335;19028959;19164127;19164128;19258923;19265114;19381167;19406482;19437550;19454678;19505919;19527497;19527514;19593445;19614650;19637197;19841637;19850743;19913121;19915052;19924287;20004021;20100933;20124101;20190752;20194452;20227302;20237413;20237496;20364151;20399690;20412752;20503287;20588308;20595247;20628086;20652908;20674764;20829351;20832340;20946625;20977567;21061265;21092001;21321205;21354862;21499082;21677671;21734241;21947541;21977996;22022576;22065095;22164301;22196370;22210629;22243920;22289837;22340042;22363482;22393042;22525943;22730373;22768144;22795647;22857391;23221735;23223421;23369718;23386618;23425350;23520111;23685782;23787171;23906644;24046015;24205871;24227841;24254490;24445780;24525049;24771848;24813206;25204046;9435236 51311 Q9NR97 AB445666;ABBA01071048;ABBA01071049;ABBA01071050;ABBA01071051;ABBA01071052;ABBA01071053;AC005859;AC139705;AF245703;AF246971;AK075117;AK297024;AK307562;AK314240;AMYH02038887;AY358296;BC101074;BC101075;BC101076;BC101077;CH471074;DQ023132;DQ023133;DQ023134;DQ023135;DQ023136;DQ023137;DQ023139;DQ023140;KC877963;NG_012882;NM_016610;NM_138636;XM_005274543 AAF64061;AAF78036;AAI01075;AAI01076;AAI01077;AAI01078;AAQ88663;AAZ95433;AAZ95434;AAZ95435;AAZ95436;AAZ95437;AAZ95438;AAZ95440;AAZ95441;BAC11412;BAG55063;BAG59554;EAW98808;EAW98809;NP_057694;NP_619542;Q9NR97;XP_005274600 Hs.660543 1683461;1796958;2125518;5095062 DXS7651;RH93995;TLR8;TLR8_1092 CD288;MGC119599;MGC119600 OTTHUMP00000022930 APPROVED protein-coding ENSG00000101916 HGNC:15632 02296 300366 REVIEWED 737013 TLR4 toll-like receptor 4 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor has been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 9 9 9 q33.1 91114228 91127535 + 120466453 120479769 + 117704175 117717491 + 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7099 O00206 AA598398;AB445638;ABBA01016273;AF172171;AF177765;AF177766;AK226155;AK290053;AK293068;AK303730;AL160272;AL710219;AMYH02021544;BC025294;BC117422;BC143841;BG622357;CH471090;DA126770;DA187988;DA218006;DQ018108;DQ018109;FB700885;GM869034;NG_011475;NM_003266;NM_138554;NM_138557;U69193;U88880;U93091 AAC34135;AAC80227;AAF05316;AAF07823;AAF89753;AAI17423;AAY82268;AAY82269;BAF82742;BAF85757;BAG55035;BAG64706;CAS02255;CAT16978;EAW87448;EAW87449;EAW87451;NP_003257;NP_612564;NP_612567;O00206 Hs.174312 1735926;1791854;1793194;1793196;1793776;1794564;1794778;1795096;1795110;1795114;1795120;1795136;1796954;1854627;2114060;5093840 A009X32;D9S1060E;G32954;PMC128073P5;PMC201071P2;PMC201071P3;PMC289161P2;PMC31919P1;PMC55404P3;PMC97668P2;PMC98129P2;PMC98226P2;PMC98510P2;PMC98826P3;TLR4;TLR4_1086 ARMD10;CD284;TLR-4;TOLL;hToll OTTHUMP00000022807;homolog of Drosophila toll APPROVED protein-coding ENSG00000136869 HGNC:11850 04325 114500;603030;611488 REVIEWED 5144586 TLR8-AS1 TLR8 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) X X X p22.31 17034947 17040460 - 12920936 12926455 - 12902817 12908336 - 8554872 12477932 349408 ABBA01071048;ABBA01071049;AC005859;AC139705;AMYH02038887;BC037548;HG512437;NR_030727 Hs.685035 5022588 D5S1597E GS1-324M7.6 APPROVED ncrna ENSG00000233338 HGNC:40720 VALIDATED 1351719 TLX1 T-cell leukemia homeobox 1 This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily of homeobox genes. The encoded protein is required for normal development of the spleen during embryogenesis. This protein is also involved in specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certain T-cell acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 10 10 10 q24 96628773 96635241 + 102891061 102897546 + 101131304 101137789 + 1599439;1580863;6480464;7240710;8699517 1683261 10327073;10393251;11342305;12054735;12180349;12477932;1352396;14504110;15384172;15897879;16357834;16407851;1676542;1681546;16862188;1717256;17213805;17303350;17609427;17713543;18073142;18187418;18245528;18283632;18368072;19250647;19559479;1973146;19862821;20618946;20972433;21326611;22366949;22516263;24001773;7555717;8099440;9009195;9778044 3195 G3V1B7;P31314 ABBA01063205;AF067443;AJ009794;AL357395;AMYH02023668;BC130530;BF514683;CH471066;M62626;M75952;NG_027826;NM_001195517;NM_005521;S38742 AAA36719;AAA58662;AAB19293;AAG10096;AAI30531;CAA08834;EAW49778;NP_001182446;NP_005512;P31314 Hs.89583 1742239;1779001;2108963;2121953 D10S2182;GDB:193866;RH17718;TLX1_1096.2 HOX11;MGC163402;TCL3 Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch);OTTHUMP00000020816;OTTHUMP00000244108;T-cell leukemia homeobox protein 1;T-cell leukemia/lymphoma protein 3;homeo box 11 (T-cell lymphoma 3-associated breakpoint);homeobox protein Hox-11;proto-oncogene TCL-3 APPROVED protein-coding ENSG00000107807 HGNC:5056 01728 186770 REVIEWED 3322054 TLX1NB TLX1 neighbor 10 10 10 q24 96586805 96628615 - 102849078 102890903 - 101089321 101131146 - 12477932;15164054;15489334;17303350 100038246 P0CAT3 ABBA01063205;ABBA01063206;ABBA01063207;AL133215;AL357395;AMYH02023667;AMYH02023668;BC019674;BI770592;CH471066;NM_001085398;Y11608 EAW49779;NP_001078867;P0CAT3 Hs.662323 1742239 GDB:193866 APT-B7;TD1;TDI TLX1 divergent gene protein;putative TLX1 neighbor protein;putative protein TDI protein-coding ENSG00000236311 HGNC:37183 612734 VALIDATED 1320082 TLX2 T-cell leukemia homeobox 2 This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010] 2 2 2 p13.1 74572760 74575439 + 74740686 74744275 + 74514469 74517148 + 1580863;6480464;8554872 10343123;10446220;12477932;15489334;16291166;16402914;16969514;19719399;20044949;20211142;20728215;21697133;8889548;9738002 3196 F1T0F2;O43763 AB008501;AB008502;AB593086;ABBA01075602;AC005041;AJ002609;AMYH02004091;BC006356;BC006396;BC018611;BU740503;CH471053;NM_016170 AAH06356;ABZ92008;BAA83463;BAJ84026;EAW99630;NP_057254;O43763 Hs.168586 Enx;HOX11L1;NCX OTTHUMP00000160420;T-cell leukemia homeobox protein 2;homeo box 11-like 1;homeobox protein Hox-11L1;neural crest homeobox protein;t-cell leukemia, homeobox 2 APPROVED protein-coding ENSG00000115297 HGNC:5057 07254 604240 REVIEWED 1346715 TLR9 toll-like receptor 9 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is preferentially expressed in immune cell rich tissues, such as spleen, lymph node, bone marrow and peripheral blood leukocytes. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 52234410 52239491 - 52255096 52260179 - 52221080 52226163 - 1580863;2312677;2301099;2312679;5130185;5130206;5130858;5130178;5130712;5130709;5130706;5130741;5129104;5130186;4889523;5130208;5130705;5130184;5130870;5130197;5130704;5130722;5130767;5130707;5130710;5130731;5130766;5128779;5130708;5130863;5130865;5130719;5129102;5130866;4144208;1643119;5685014;6480464;6907045;7246911;7246913;7800663;7794748;7794747;7246889;7800740;7246895;7246885;7245988;7246894;7246901;7794849;7794851;7245987;7246887;7794740;7246893;7246909;7777153;7245989;7246915;7794852;7245966;7246884;7246897;7246899;7246896;8554872 12781911;15631627;16023216;16973131;16973389;17004992;17283572;17321466;17440926;17469139;17686871;17785831;17853411;17925007;18155283;18256364;18275280;18312481;18376319;18416964;18426877;18433921;18434754;18633634;18763053;18776126;18922969;18936185;19130296;19148143;19539691;19578108;19608731;19771452;19953283;20016192;20038537;20072849;20085599;20227302;20360853;20473890;20493664;20497632;20604744;20806060;20837493;20847283;21127878;21235323;21324137;21544241;21592581;21621468;21848608;21908957;21929816;22251233;22577387;22662111;22672741;22787315;23467932;23548820 11022119;11022120;11130078;11561001;11564765;11782555;11867692;11909637;11970999;11976718;12477932;12560217;12573264;12600829;12660731;12689944;12724322;12734363;12778475;12867418;12925853;12941697;12975309;14625308;14694183;14716310;14751759;14987294;15107846;15153500;15207506;15276183;15294971;15307186;15356140;15489334;15585868;15607737;15723075;15730519;15790341;15860583;15878652;16002719;16024265;16024789;16125159;16164440;16230478;16237063;16286015;16371473;16394009;16424230;16428738;16437636;16575840;16608528;16731773;16779724;16847112;16849519;16864658;16920494;16951309;16971956;16990271;17000223;17040905;17075805;17128265;17142771;17145922;17192395;17229603;17258734;17292969;17295441;17301562;17325049;17328813;17344245;17360657;17373717;17473064;17474147;17482427;17516623;17534115;17573724;17636117;17703412;17768129;17854429;17854755;17878374;17893430;17894360;17914947;17932028;17964520;17984204;17986857;18036648;18092352;18160420;18208876;18215354;18253698;18262306;18318750;18332208;18394314;18406377;18437017;18524824;18535206;18539711;18568766;18595521;18606688;18686608;18769358;18776592;18806803;18810425;18818748;18832675;18841790;18946062;19019335;19033535;19034349;19050243;19079358;19096003;19120473;19129482;19201477;19211891;19247692;19254290;19258923;19264973;19275920;19284650;19289178;19297619;19299739;19317913;19319670;19337058;19362685;19367581;19390575;19401392;19406482;19423540;19459480;19505919;19513613;19527514;19564354;19601804;19618291;19620253;19627277;19639721;19714766;19723394;19724876;19740627;19745833;19789190;19794067;19796535;19809335;19810822;19840968;19844589;19854217;19855253;19903791;19906293;19913121;19914718;19924287;19948975;20026892;20041977;20044998;20054821;20100933;20130217;20132814;20137629;20181802;20194452;20197609;20207250;20227772;20237496;20307689;20331378;20348497;20363151;20364327;20375564;20375566;20399690;20406964;20422193;20438785;20442853;20452482;20500814;20503287;20514021;20559388;20588308;20592251;20595247;20622911;20628086;20635795;20646321;20646633;20659127;20667457;20673868;20674764;20696081;20713890;20797905;20811701;20819670;20821041;20843333;20843814;20935225;20977567;20978888;20980519;21048031;21048937;21050493;21057083;21059889;21068441;21086718;21115235;21129170;21132533;21155002;21176371;21191071;21220755;21223799;21250838;21258099;21273385;21287547;21317915;21328884;21391743;21398612;21425908;21448350;21457584;21462132;21483736;21490291;21499878;21515789;21527067;21575365;21595536;21604257;21607583;21633947;21682079;21689850;21703981;21720175;21734566;21741080;21748790;21778270;21778277;21823020;21833528;21843566;21844166;21850017;21866115;21876325;21903422;21908428;21911421;21926972;21940676;21968308;21968713;21977996;21978158;21990957;22001237;22014045;22041559;22046272;22055432;22057691;22059466;22065095;22067623;22070100;22132241;22169598;22170068;22174451;22178715;22196370;22207622;22211722;22221660;22228476;22269973;22288832;22344539;22423970;22488361;22552867;22554506;22577991;22594374;22594608;22613717;22653776;22671429;22684144;22691414;22695187;22701693;22714906;22768144;22822061;22836641;22847512;22853846;22893852;22898741;22908309;22931661;22932083;22948021;22948541;22952899;22964787;23009111;23021866;23043436;23045477;23071157;23091345;23103284;23123793;23133627;23135998;23179584;23182970;23183093;23219390;23221735;23237868;23266611;23276930;23289794;23296704;23369718;23383065;23406596;23407387;23425749;23467704;23472199;23490285;23497207;23564191;23592712;23593431;23617757;23651260;23673637;23677790;23711330;23724117;23731219;23752229;23758740;23766695;23776537;23816930;23827939;23855294;23893288;23913633;23957925;23962979;23964786;23967355;23974051;23974872;23990988;23994589;24004541;24007656;24053111;24067965;24080302;24091496;24168509;24184955;24212717;24269682;24301797;24375473;24459426;24470136;24504675;24532514;24574405;24612681;24709112;24865418;9435236 54106 C3W5P5;Q9NR96 AB045180;AB445673;ABBA01024511;AC097637;AF245704;AF246972;AF259262;AF259263;AMYH02006798;AY359085;BC032713;CH471055;DQ019992;DQ019993;DQ019994;DQ019995;DQ019996;DQ019999;EU170540;EU170541;EU170542;EU170543;NG_033933;NM_017442 AAF72189;AAF72190;AAF78037;AAG01734;AAH32713;AAQ89443;AAZ95513;AAZ95514;AAZ95515;AAZ95516;AAZ95517;AAZ95520;ABW37075;ABW37076;ABW37077;ABW37078;ACE86657;ACE87339;BAB19259;BAG55070;EAW65191;EAW65193;NP_059138;Q9NR96 Hs.87968 1791862;1794780;1796960 PMC128073P9;PMC55404P4;TLR9_1094 CD289 OTTHUMP00000212618 APPROVED protein-coding ENSG00000239732 HGNC:15633 05685 605474 REVIEWED 1353737 TLX3 T-cell leukemia homeobox 3 RNX (HOX11L2, TLX3) belongs to a family of orphan homeobox genes that encode DNA-binding nuclear transcription factors. Members of the HOX11 gene family are characterized by a threonine-47 replacing cytosine in the highly conserved homeodomain (Dear et al., 1993 [PubMed 8099440]).[supplied by OMIM, Mar 2008] 5 5 5 q35.1 166768846 166771694 + 170736288 170739138 + 171309284 171312134 + 1580863;6480464 11435716;11435718;11587205;12130513;12407709;12454747;12477932;12970786;14504110;15123239;15240857;15334547;15466398;15489334;15674415;15990867;16966433;17308084;18185524;18368072;19250647;20211142;21225930;21374761;21617853;21988832;22366949;22516263;8099440 30012 O43711 ABBA01044083;ABBA01044084;AC091980;AJ223798;AMYH02012731;BC017291;CH471062;NM_021025 AAH17291;ABM83580;ABM86819;ABM87084;CAA11550;EAW61452;NP_066305;O43711 Hs.249125 HOX11L2;MGC29804;RNX OTTHUMP00000223315;T-cell leukemia homeobox protein 3;T-cell leukemia, homeobox 3;homeo box 11-like 2;homeobox protein Hox-11L2 APPROVED protein-coding ENSG00000164438 HGNC:13532 06868 604640 PROVISIONAL 1602315 TM2D1 TM2 domain containing 1 The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. [provided by RefSeq, Dec 2008] 1 1 1 p31.3 60435134 60479720 - 62146718 62191095 - 61681046 61725423 - 6480464 11278849;12477932;12553667;12836168;15126508;17207965;19322201;21139048 83941 J3KPA2;Q9BX74;U3KPS6;U3KPW4;U3KQ44;U3KQF9;U3KQS3 ABBA01074623;ABBA01074624;ABBA01074625;AC099791;AF353990;AK311444;AK311705;AMYH02001128;AMYH02001129;BC029486;BC048995;CH471059;NM_032027;XM_005271250;XR_246299 AAH29486;AAK35064;ADQ31640;EAX06597;EAX06598;EAX06599;NP_114416;Q9BX74;XP_005271307 Hs.656790 1685798;1739751;1857326;2144215;2177701;2179765;5022578 D10S1624;D1S1423;D1S2193;D1S2501E;RH92344;SHGC-74894;SHGC-74933 BBP;hBBP OTTHUMP00000010139;OTTHUMP00000010227;TM2 domain-containing protein 1;beta-amyloid-binding protein APPROVED protein-coding ENSG00000162604 HGNC:24142 16540 610080 REVIEWED 1602456 TM2D2 TM2 domain containing 2 The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008] 8 8 8 p11.22 37797825 37805586 - 38846327 38854335 - 38988808 38996723 - 6480464 11278849;12477932;16303743;8125298 83877 E5RIQ5;E5RIT0;E5RJK9;Q9BX73 ABBA01015933;AC108863;AF353991;AK075027;AK075155;AK225093;AK314703;AL834224;AMYH02017843;BC004878;BC109049;BC109050;BG424960;CH471080;CQ783012;CQ783226;NM_001024380;NM_001024381;NM_031940;NM_078473;XM_005273657;XM_006716408 AAH04878;AAI09050;AAI09051;AAK35065;BAC11359;BAC11437;BAG37251;CAF86219;CAF86421;CAH10695;EAW63286;EAW63287;EAW63288;EAW63289;NP_001019551;NP_001019552;NP_114146;NP_510882;Q9BX73;XP_005273714;XP_006716471 Hs.7471 1664238;1689051;5022578 D1S1423;RH98541;WI-16234 BLP1;MGC125813;MGC125814 BBP-like protein 1;OTTHUMP00000225898;OTTHUMP00000225899;OTTHUMP00000225900;OTTHUMP00000225901;TM2 domain containing 2, isoform a;TM2 domain-containing protein 2;beta-amyloid-binding protein-like protein 1 APPROVED protein-coding ENSG00000169490 HGNC:24127 16553 610081 VALIDATED 1602099 TM2D3 TM2 domain containing 3 The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 78595626 78606219 - 102173429 102192594 - 101633226 101652793 - 6480464 11278849;12477932;14702039;16642435;22990118;24250222 80213 B3KT51;E7EPS7;H0YM84;H0YNF6;H0YNS4;H3BSX6;Q9BRN9 ABBA01020518;AC090164;AF353992;AK026257;AK094955;AK296553;AK297048;AK315584;AL512689;AMYH02031174;BC006150;BC008873;BQ272585;CH471101;NM_025141;NM_078474;XM_005254980;XM_005254981 AAH06150;AAH08873;AAK35066;BAB15415;BAG37956;BAG52963;BAG59176;BAG59574;CAC21647;EAX02313;EAX02314;EAX02315;NP_079417;NP_510883;Q9BRN9;XP_005255037;XP_005255038 Hs.288912 1654980;1654982;1688116;1691204;2114645;2132944 A004B35;A005Y48;G20610;RH15691;RH77920;RH94107 BLP2 BBP-like protein 2;OTTHUMP00000194837;OTTHUMP00000194838;TM2 domain-containing protein 3;beta-amyloid-binding protein-like protein 2 APPROVED protein-coding ENSG00000184277 HGNC:24128 16554 610014 REVIEWED 1320105 TM4SF1 transmembrane 4 L six family member 1 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008] 3 3 3 q21-q25 147497217 147505986 - 149086805 149095647 - 149369018 149377781 - 1580863;6480464 11102519;11426942;11739647;11774983;12477932;12855661;14702039;15489334;1565644;15812828;16169070;18270265;19322201;19401544;20486778;21139048;21569526;21626280;21656834;21987572;23383108;24285464;7510285;7829101;8168850 4071 C9J611;F8WBG6;F8WF27;P30408 ABBA01058945;AC073522;AC108751;AK093829;AK130073;AK130271;AL832780;AMYH02007884;BC008442;BC010166;BC034145;BG142206;BI494959;CH471052;CR456953;M90657;NM_014220;X75684 AAA36158;AAH08442;AAH10166;AAH34145;CAG33234;EAW78874;EAW78875;EAW78876;NP_055035;P30408 Hs.351316 1648254;1676226;2144440;2153329 D3S3931;D3S4191;RH91511;STS-M90657 H-L6;L6;M3S1;TAAL6 OTTHUMP00000215898;membrane component chromosome 3 surface marker 1;membrane component, chromosome 3, surface marker 1;transmembrane 4 L6 family member 1;transmembrane 4 superfamily member 1;tumor-associated antigen L6 APPROVED protein-coding ENSG00000169908 HGNC:11853 01854 191155 REVIEWED 6481297 TM4SF1-AS1 TM4SF1 antisense RNA 1 3 3 q25.1 149095747 149104370 + 149377778 149386583 + 19379481 100874091 ABBA01058945;AC108751;AMYH02007884;BU753850;CB956551;FN058250;HG496167;HG496168;NR_046650;NR_109809;NR_109810 Hs.549633 RP11-278L15.1 APPROVED ncrna ENSG00000240541 HGNC:40587 VALIDATED 1605011 TM4SF18 transmembrane 4 L six family member 18 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; cyclosporin A 3 3 3 q25.1 147446792 147462055 - 149036285 149051548 - 149318498 149333761 - 6480464;8554872 10975581;12477932;14702039;15489334;16344560;17207965 116441 C9J6Q4;Q96CE8 ABBA01058945;AC093001;AK092282;AK313400;AL833134;AMYH02007884;BC014339;BF213446;CA454331;CH471052;DB282139;NM_001184723;NM_138786 AAH14339;ADQ33182;BAG36197;EAW78877;EAW78878;EAW78879;NP_001171652;NP_620141;Q96CE8 Hs.22026 1336490;1680703;1698882;1759247 D3S3705;RH103008;RH81076;SHGC-151155 L6D OTTHUMP00000215874;OTTHUMP00000215875;OTTHUMP00000215876;transmembrane 4 L6 family member 18 protein-coding ENSG00000163762 HGNC:25181 14018 VALIDATED 1605592 TM4SF19 transmembrane 4 L six family member 19 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 5-aza-2'-deoxycytidine; benzo[a]pyrene 3 3 3 q29 194630617 194645455 - 196050417 196065291 - 196323546 196338420 - 6480464 12477932;15489334;16344560 116211 B7ZW46;C9JCD5;H7C405;Q96DZ7 ABBA01033734;ABBA01033735;AC069257;AF192910;AK310209;AMYH02008480;AMYH02008481;AMYH02008482;BC146985;BC146993;BC147021;BC171824;BC171870;BP395549;BP396791;BQ678650;CA430273;CA489370;CH471191;DB015357;NM_001204897;NM_001204898;NM_138461 AAI46986;AAI46994;AAI47022;AAI71870;AAQ13824;EAW53661;NP_001191826;NP_001191827;NP_612470;Q96DZ7 Hs.733264 OCTM4 OTTHUMP00000208458;OTTHUMP00000208459;OTTHUMP00000208460;OTTHUMP00000208461;osteoclast maturation-associated gene 4 protein;tetraspan membrane protein OCTM4;transmembrane 4 L6 family member 19 protein-coding ENSG00000145107 HGNC:25167 14013 VALIDATED 6481168 TM4SF19-AS1 TM4SF19 antisense RNA 1 3 q29 196318350 196324189 + 100874214 ABBA01033732;ABBA01033733;ABBA01033734;AC069257;AK124973;AMYH02008480;CK819994;NR_046724;NR_121665;XR_425696;XR_427460;XR_431681 Hs.672105 APPROVED ncrna HGNC:41085 VALIDATED 7377977 TM4SF19-TCTEX1D2 TM4SF19-TCTEX1D2 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring transmembrane 4 L six family member 19 (TM4SF19) and Tctex1 domain containing 2 (TCTEX1D2) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus not expected to produce a protein product. [provided by RefSeq, Mar 2011] 3 3 q 196042956 196065291 - 196316085 196338420 - 6480464 12477932;20967262 100534611 ABBA01033732;ABBA01033733;ABBA01033734;ABBA01033735;AC069257;AMYH02008480;AMYH02008481;AMYH02008482;NR_037950 Hs.733180 ncrna HGNC:49190 VALIDATED 1605628 TM4SF20 transmembrane 4 L six family member 20 FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; crocidolite asbestos 2 2 2 q36.3 221996055 222013256 - 228226872 228244022 - 227362156 227379306 - 6480464 12477932;12975309;14702039;15489334;15815621;16344560;20479760;23810381 79853 C9JES4;Q53R12 ABBA01050185;AC097662;AK026453;AMYH02005919;AY358671;BC035754;BC137256;BC137257;CH471063;DA926038;NM_024795 AAH35754;AAI37257;AAI37258;AAQ89034;AAY24253;BAB15488;EAW70870;NP_079071;Q53R12 Hs.156652 FLJ22800;PRO994;SLI5;TCCE518 OTTHUMP00000164243;transmembrane 4 L6 family member 20 protein-coding ENSG00000168955 HGNC:26230 08008 615404;615432 VALIDATED 731779 TM4SF4 transmembrane 4 L six family member 4 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that can regulate cell proliferation.[provided by RefSeq, Mar 2011] 3 3 3 q25 147604384 147633024 + 149192368 149221181 + 149474581 149503394 + 1580863;6480464 10975581;11739647;12477932;14702039;15342556;15489334;18765015;22011044;23296076;24282057;7665614;9737661 7104 C9JVD2;P48230 ABBA01058943;AC108751;AK055577;AK315464;AMYH02007884;BC001386;BG656032;BP294159;BT007430;CH471052;CS223383;HH935298;HI939028;HI939141;HI939254;HI987324;HI988479;HI988592;JA032847;JA033054;JA033655;JA142877;JA188628;JA188741;JA282315;JA288780;JA421414;NM_004617;U31449 AAA74745;AAH01386;AAP36098;BAG37851;BAG51538;CAJ46931;CBX36869;CBY79741;CBY79760;CBY79779;CBY88735;CBY88763;CBY88782;CCA61671;CCA61690;CCA61709;CCA64036;CCA64157;CCA64176;CCA65386;CCA65417;CCD32746;EAW78870;EAW78871;NP_004608;P48230 Hs.133527 2168816;2173707;2186337 RH17784;RH46271;SHGC-35530 FLJ31015;ILTMP;il-TMP OTTHUMP00000216010;intestinal and liver (il) tetraspan membrane protein;intestine and liver tetraspan membrane protein;transmembrane 4 L6 family member 4;transmembrane 4 superfamily member 4 APPROVED protein-coding HGNC:11856 07585 606567 REVIEWED 1318639 TM4SF5 transmembrane 4 L six family member 5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 4690393 4701712 + 4675187 4686506 + 4771892 4783211 + 1580863;6480464 10975581;11739647;11774983;12477932;15489334;16828471;17207965;18357344;19036703;19789264;20399237;20506553;21196261;21328452;22014979;22178131;22292774;22359512;22916037;23077174;23633159;24912675;8895530;9479038 9032 O14894;Q6FHF6 ABBA01054773;ABBA01054774;AC091153;AC109333;AC233723;AF027204;AMYH02032833;BC069519;BC093688;BC117163;CH471108;CR456925;CR541798;NM_003963 AAB82947;AAH69519;AAH93688;AAI17164;ADQ32915;CAG33206;CAG46597;EAW90412;EAW90413;NP_003954;O14894 Hs.184194 2120368 G22328 OTTHUMP00000115981;tetraspan transmembrane protein L6H;transmembrane 4 L6 family member 5;transmembrane 4 superfamily member 5 APPROVED protein-coding ENSG00000142484 HGNC:11857 06877 604657 REVIEWED 1318158 TM6SF2 transmembrane 6 superfamily member 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; beta-naphthoflavone 19 19 19 p13.3-p12 19279244 19288141 - 19374841 19384074 - 19264365 19273265 - 1580863;6480464;8554872 11124529;11572484;12477932;14702039;15057824;16344560;23974872;24531328;24633158;24927523;24978903 53345 Q8N8A7;Q9BZW4 ABBA01051321;AC003967;AC138430;AF255923;AK024515;AK026307;AK097070;AMYH02035752;BC120986;BC120987;CH471106;DA930032;NM_001001524 AAG59700;AAI20987;AAI20988;AAI60089;BAC04941;EAW84806;EAW84807;NP_001001524;Q9BZW4 Hs.531624 2109969;2186511 D19S1164;TM6SF2_9766 KIAA1926 protein-coding ENSG00000213996 HGNC:11861 12109 606563 VALIDATED 1317482 TM6SF1 transmembrane 6 superfamily member 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); arsenous acid; benzo[a]pyrene 15 15 15 q24-q26 60781106 60810893 - 83776301 83806111 + 83107572 83137359 + 1580863;6480464 11124529;12477932;8125298 53346 E9PD04;H3BM84;H3BMK0;Q6P4D7;Q8N5N8;Q9BZW5 ABBA01029434;AC024270;AF255922;AK223246;AK292100;AK295568;AMYH02030925;BC032007;BC063487;CH471188;CQ834420;CS072467;DQ021909;NM_001144903;NM_023003;XM_005272432;XR_429457 AAG59699;AAH32007;AAH63487;AAY44754;ADZ15973;BAD96966;BAF84789;BAG58468;CAH05425;CAI93605;EAW62428;NP_001138375;NP_075379;Q9BZW5;XP_005272489 Hs.513094 1646690;1654184;1669132;1698962;1731317;2122950;5095894 D15S1212;D15S173;NIB1973;RH103050;WI-14093;WI-19531;WIAF-1509 OTTHUMP00000190873 protein-coding ENSG00000136404 HGNC:11860 08411 606562 VALIDATED 1315548 TM7SF3 transmembrane 7 superfamily member 3 FOUND IN extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; aflatoxin B1 12 12 12 q11-q12 32270664 32313491 - 27124503 27167360 - 26971570 27014427 - 1580863;6480464 10828615;12477932;14702039;15489334;16344560;19056867;19322201;20734064;21139048;21853325;21890473;21906983;21963094;21987572;22505724;23000965 51768 F5GWC3;F5GXE1;F5GY35;F5GY59;F5H3K5;F5H4T1;F5H587;F5H7C5;H0YFM3;H0YFT0;H0YFW7;H0YGR1;H0YH23;Q9NS93 AB032470;ABBA01068042;AC024896;AK002031;AK023085;AMYH02026241;AMYH02026242;AMYH02026243;BC005176;CH471094;DA719107;NM_016551;XM_005253391;XR_242895 AAH05176;BAA92046;BAA92856;BAG51155;EAW96542;NP_057635;Q9NS93;XP_005253448 Hs.438641 1664974;1683052;1691124;1713361;1736278;1754433;2128566;2148162;2162695;2218836;5015961;5017599;5022578;5037552 D12S1184E;D12S1233E;D12S1325;D15S1477;D1S1423;D8S2279;RH119535;RH66421;RH80985;RH91481;SHGC-132496;SHGC-33364;TM7SF3;TM7SF3__5273 OTTHUMP00000240505;seven span transmembrane protein;seven transmembrane protein TM7SF3 protein-coding HGNC:23049 05536 605181 VALIDATED 1322541 TM7SF2 transmembrane 7 superfamily member 2 ENCODES a protein that exhibits delta14-sterol reductase activity (inferred); oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (inferred); INVOLVED IN cholesterol biosynthetic process (inferred); oxidation-reduction process (inferred); small molecule metabolic process (inferred); FOUND IN receptor complex; INTERACTS WITH aflatoxin B1; benzo[a]pyrene diol epoxide I; capsaicin 11 11 11 q13 62205641 62210007 + 64879326 64883707 + 65111854 65116235 + 1580863;6480464 11784322;11937680;12477932;15489334;16784888;18624398;18660489;19940018;20138239;24457600;24816145;9286704;9615229;9878250 7108 E9PK81;E9PLI3;E9PLL1;E9PLS9;E9PP79;E9PQ50;E9PQZ7;E9PRQ1;E9PS09;E9PS18;H0YCI8;H0YDY5;H0YEN6;O76062 ABBA01024136;AF023676;AF048704;AF096303;AF096304;AK290935;AK296441;AMYH02024953;AP003068;BC009052;BC012857;BC038353;BG771219;CH471076;NM_001277233;NM_003273;NR_102367 AAC21450;AAC21457;AAD09765;AAD09769;AAH09052;AAH12857;AAH38353;BAF83624;BAG59094;EAW74348;EAW74349;EAW74350;EAW74351;NP_001264162;NP_003264;O76062 Hs.31130 2108575 TM7SF2_8679 ANG1;DHCR14A;NET47 C-14 sterol reductase;OTTHUMP00000230405;OTTHUMP00000230407;OTTHUMP00000230409;OTTHUMP00000230410;OTTHUMP00000230411;another new gene 1 protein;delta(14)-sterol reductase;delta-14-SR;putative sterol reductase SR-1;sterol C14-reductase protein-coding ENSG00000149809 HGNC:11863 04564 603414 VALIDATED 1316066 TM9SF1 transmembrane 9 superfamily member 1 INVOLVED IN autophagy (inferred); protein transport (inferred); FOUND IN cytoplasmic vesicle (inferred); integral component of membrane (inferred); lysosome (inferred); INTERACTS WITH atrazine; caffeine; cobalt dichloride 14 14 14 q11.2 4522825 4529352 - 24658353 24666288 - 24189143 24195736 - 1580863;6480464 11595169;12477932;15489334;17342744;19029833;21674799;21906983;21988832;9332367 10548 B4E3A9;E9PJC4;E9PJM1;E9PL78;E9PMQ9;E9PNW2;E9PP24;E9PQY7;E9PS99;E9PSI1;G3V1B9;O15321 AA663295;ABBA01061336;ABBA01061337;AK292110;AK304642;AL136295;AMYH02028880;AW015727;AW452952;AX925962;BC010856;BM922952;BX161390;BX161494;CH471078;DB524698;HY174389;JA795162;JA795164;NM_001014842;NM_001289006;NM_006405;U94831 AAC51782;AAH10856;BAF84799;BAG65421;CAD61879;CAD61941;CAF02373;CCO75431;CCO75432;EAW66073;EAW66074;EAW66075;EAW66076;EAW66077;NP_001014842;NP_001275935;NP_006396;O15321 Hs.91586 1652825;1684706;1693476;2109971;2135479;5019781 A009U06;G32832;RH47154;RH70732;SHGC-57971;TM9SF1_9135 HMP70;MP70 MP70 protein family member;OTTHUMP00000028169;OTTHUMP00000164699;OTTHUMP00000234858;OTTHUMP00000234859;OTTHUMP00000234860;multispanning membrane protein (70kD);transmembrane protein 9 superfamily member 1 protein-coding ENSG00000100926 HGNC:11864 09987 VALIDATED 1343017 TM9SF2 transmembrane 9 superfamily member 2 This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012] 13 13 13 q32.3 80998257 81059812 + 100153628 100216302 + 99501374 99564048 + 1580863;2317244;6480464 12730115 12477932;14702039;15057823;15231748;15489334;16344560;18187620;19199708;20379614;21139048;21903422;22939629;23251661;24250222;8125298;9230071;9729438 9375 Q99805 ABBA01027118;ABBA01027119;AK093507;AK129798;AK225800;AK290514;AK315210;AL139035;AMYH02028591;AMYH02028592;BC110656;BC130293;BK008790;CH471085;CQ834842;DB024878;JA795166;L13803;NM_004800;U81006 AAB38973;AAI10657;AAI30294;BAF83203;BAG52731;CAH05636;CCO75433;DAA64545;EAX09023;NP_004791;Q99805 Hs.607896 1698366;1738417;2118861 D13S508E;RH102724;SGC32863 FLJ26287;MGC117391;P76 76 kDa membrane protein;OTTHUMP00000018623;dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 2;transmembrane protein 9 superfamily member 2 protein-coding ENSG00000125304 HGNC:11865 09198 604678 REVIEWED 1317150 TM9SF4 transmembrane 9 superfamily protein member 4 FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; elemental selenium; selenium atom 20 20 20 q11.21 27453693 27511424 + 30697309 30755061 + 32109506 32167258 + 737633;1580863;6480464 12477932 11780052;14702039;15489334;19322201;19893578;21139048;21890473;21906983;22939629;23128233;24816145;8889548;9039502 9777 B4DH88;F2Z2L1;F8WCN2;Q92544 ABBA01019281;ABBA01019282;ABBA01019283;AK124411;AK126534;AK294980;AK296500;AK302439;AK316293;AL049539;AMYH02036915;AMYH02036916;AMYH02036917;AMYH02036918;AMYH02036919;BC005173;BC021107;BC022850;BK008759;BM976438;CH471077;CQ834450;CQ834502;D87444;DC381660;JA795170;NM_014742;XM_005260622 AAH21107;AAH22850;BAA13385;BAC86581;BAG58049;BAG59133;BAG63738;BAH14664;CAH05440;CAH05466;CCO75435;DAA64541;EAW76389;EAW76390;EAW76391;NP_055557;Q92544;XP_005260679 Hs.654665 1339429;2124785;2169585 D20S1026;D20S874;RH64163 KIAA0255;dJ836N17.2 OTTHUMP00000030581;OTTHUMP00000200405;dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 4;transmembrane 9 superfamily member 4 protein-coding ENSG00000101337 HGNC:30797 15514 VALIDATED 1605071 TMA16 translation machinery associated 16 homolog (S. cerevisiae) FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 4 4 4 q32.2 161747938 161773962 + 164415673 164441691 + 163494521 163520539 + 6480464 12477932;14702039;17207965;19615732;19953087;20098747;21139048;21145461;21832049;24816145 55319 D6RA57;D6RC31;D6RE67;H0Y9X1;Q96EY4 AA772718;ABBA01070272;AC093788;AK002046;AK298235;AMYH02010417;AW518118;BC005204;BC011842;BC017418;BU159489;BX370094;CH471056;NM_018352 AAH11842;ADQ33172;BAA92053;BAH12740;EAX04836;EAX04837;NP_060822;Q96EY4 Hs.267446 1690402;1696966;2160223 RH101955;RH93364;SHGC-50341 C4orf43;FLJ11184;FLJ52950 OTTHUMP00000220341;OTTHUMP00000220342;OTTHUMP00000220343;OTTHUMP00000220345;UPF0534 protein C4orf43;hypothetical protein LOC55319;translation machinery-associated protein 16 APPROVED protein-coding ENSG00000198498 HGNC:25638 07739 VALIDATED 6480420 TMA16P1 translation machinery associated 16 homolog pseudogene 1 11 11 11 q12.1 55921763 55923515 - 58562676 58564428 - 58795203 58796955 - 100101405 ABBA01021493;AMYH02024861;AP001652;NG_006426 pseudo HGNC:43780 INFERRED 6480421 TMA16P2 translation machinery associated 16 homolog pseudogene 2 1 1 1 p34.1 44598645 44601025 - 46311010 46313391 - 45845338 45847719 - 100101407 ABBA01050850;AL603888;AMYH02000942;NG_006427 pseudo HGNC:43781 INFERRED 1604607 TM9SF3 transmembrane 9 superfamily member 3 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; 2-methylcholine; copper atom 10 10 10 q24.1 92020188 92089213 - 98277867 98346809 - 96518110 96587052 - 6480464;8554872 11595169;12477932;12975309;14702039;16303743;16385451;19322201;21139048;21890473;21903422;21906983;21963094;23798571 56889 Q5TB53;Q9HD45 ABBA01021829;AF116347;AF160213;AF269150;AK000756;AK027438;AK027788;AK074824;AK075093;AK075451;AK297721;AK314348;AL138765;AMYH02023592;AY358819;BC020959;BC136788;BC136789;BC144412;BK008789;CH471066;JQ313908;NM_020123 AAF21983;AAF67014;AAF98159;AAH20959;AAI36789;AAI36790;AAQ89178;BAA91362;BAB55110;BAB55369;BAC11232;BAC11397;BAG60075;DAA64544;EAW49972;EAW49973;EAW49974;NP_064508;Q9HD45 Hs.500674 1658496;1718185;1726927;1736096;1737591;2127041;2173982;2191241 D10S1373E;D10S2156;D16S2675;G62707;MARC_16739-16740:1020435072:1;RH11283;RH122861;RH67979 EP70-P-iso;RP11-34E5.1;SMBP OTTHUMP00000020173;SM-11044 binding protein;SM-11044-binding protein;dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 3;endomembrane protein emp70 precursor isolog protein-coding ENSG00000077147 HGNC:21529 18073 VALIDATED 1605384 TMA7 translation machinery associated 7 homolog (S. cerevisiae) INTERACTS WITH bleomycin A5; copper(2+) sulfate; disodium selenite 3 3 3 p21.31 48432457 48436308 + 48481686 48485537 + 48440276 48444129 + 6480464 11042152;12477932;14702039;15489334;15740594;16096800;21832049;22571579;23000965;23940030 51372 Q9Y2S6 ABBA01024650;ABBA01024651;AC104448;AC134772;AF077202;AF161448;AK126594;AMYH02006717;AY508979;AY794023;BC001102;BC066333;BC080531;CH471055;NM_015933 AAD26997;AAF29008;AAH80531;AAR87665;AAV40981;ABM86882;ABW03833;EAW64873;EAW64874;NP_057017;Q9Y2S6 Hs.356440 1679766;5037552 D8S2279;RH79795 CCDC72;HSPC016 OTTHUMP00000210127;coiled-coil domain containing 72;coiled-coil domain-containing protein 72;translation machinery-associated protein 7;translational machinery associated 7 homolog APPROVED protein-coding ENSG00000232112 HGNC:26932 13686 615808 PROVISIONAL 1605964 TMBIM1 transmembrane BAX inhibitor motif containing 1 ENCODES a protein that exhibits death receptor binding; INVOLVED IN negative regulation of establishment of protein localization to plasma membrane; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; negative regulation of Fas signaling pathway; FOUND IN endosome membrane; extracellular vesicular exosome; Golgi apparatus; INTERACTS WITH arsenous acid; benzo[a]pyrene; ciglitazone 2 2 2 q35 212905492 212923864 - 219138917 219157280 - 218274194 218292557 - 6480464 11996952;12477932;14702039;15278903;15489334;15498874;16303743;16607040;16636500;18440869;19056867;21107705;21139048;21988832;22939629;23128233 64114 B3KSM0;B4DUD2;C9IYT2;C9IZ27;C9JAK9;C9JAP5;C9JDV0;C9JEN3;C9JI44;C9JM62;C9JN47;C9JW19;C9JWV9;F8WDY4;Q969X1 AB257295;ABBA01023875;AC021016;AF173384;AF193045;AK027755;AK075465;AK090618;AK093911;AK130380;AK130713;AK298123;AK298500;AK300597;AMYH02005786;BC007980;BC013428;BC026348;BC026693;BX471120;CA488388;CD514853;CF994144;CH471063;CQ871236;NG_017060;NM_022152;XM_005246758;XM_005246761;XM_005246762 AAG22473;AAH07980;AAH13428;AAH26348;AAH26693;AAQ13625;ABM81925;ABM84708;BAB55346;BAC11636;BAE93467;BAG52198;BAG52782;BAG60403;BAG60707;BAG62294;CAH56799;EAW70607;EAW70608;EAW70609;NP_071435;Q969X1;XP_005246815;XP_005246818;XP_005246819 Hs.591605 1680465;2118190;2126374;2154267;2157852;2161317 RH12007;RH41829;RH68260;RH78114;RH80510;WI-17411 LFG3;MST100;MSTP100;PP1201;RECS1 OTTHUMP00000164137;OTTHUMP00000207318;OTTHUMP00000207319;protein RECS1 homolog;protein lifeguard 3;transmembrane BAX inhibitor motif-containing protein 1 protein-coding ENSG00000135926 HGNC:23410 17884 610364 VALIDATED 1602117 TMBIM4 transmembrane BAX inhibitor motif containing 4 INVOLVED IN negative regulation of apoptotic process; regulation of calcium-mediated signaling; FOUND IN Golgi stack; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; dioxygen 12 12 12 q14.3 66194786 66228037 - 66530717 66563808 - 66136936 66170072 - 6480464 10810093;10931946;11042152;12477932;15489334;16303743;17319741;17353931;18440869;19553469;21103663;22418439;23000903;23508950;23940116;8125298 51643 E7EWY5;F5GXT9;F5H1S4;F5H2V2;F6UZH7;G3V1M2;G3V1R8;G3XAA5;Q7Z782;Q9HC19;Q9HC24 ABBA01026577;AC078927;AF113127;AF151877;AF161526;AF182041;AF182414;AK075069;AK127285;AK225158;AL117550;AMYH02026677;BC004401;BC020613;BC052273;BC070366;BC094852;BG534013;BM989676;CH471054;CQ783072;DC361259;KF455663;NM_001282606;NM_001282609;NM_001282610;NM_016056 AAD34114;AAF14868;AAF29141;AAG14950;AAG16898;AAH04401;AAI48529;AAI56585;BAC11384;CAF86277;EAW97158;EAW97159;EAW97160;EAW97161;EAW97162;NP_001269535;NP_001269538;NP_001269539;NP_057140;Q9HC24 Hs.505934 1665554;1667143;1673191;1789160;2155750 D12S2109;G65712;RH17552;RH78838;SHGC-30825 CGI-119;FLJ45352;GAAP;LFG4;S1R;ZPRO Golgi anti-apoptotic protein;OTTHUMP00000239859;OTTHUMP00000239860;OTTHUMP00000239861;OTTHUMP00000239862;OTTHUMP00000239864;Z-protein;protein lifeguard 4;transmembrane BAX inhibitor motif-containing protein 4 protein-coding HGNC:24257 VALIDATED 736097 TMBIM6 transmembrane BAX inhibitor motif containing 6 INVOLVED IN apoptotic process (inferred); endoplasmic reticulum calcium ion homeostasis (inferred); intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (inferred); ASSOCIATED WITH Prostatic Neoplasms; Uterine Cervical Neoplasms; Breast Neoplasms (ortholog); FOUND IN membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; carmustine 12 12 12 q13.12 48931228 48954652 + 50135293 50158717 + 49741510 49764934 + 1580863;2291960;1598407;2291959;2291961;2291958;6480464 12875974;15337562;17054309;18005084 10087504;10198159;12477932;15489334;16344560;16353209;17526500;18299329;18378668;18440869;19284981;19290886;19339548;19433315;19579059;19913121;19946888;20123969;20359348;20628086;20972266;21068390;21075086;21139048;21262377;21297665;21537843;21545297;21586565;21601004;21890473;21906983;21963094;21987572;21988832;22053931;22128171;22418439;22505724;22588718;23000965;23867001;24250222;24344041;8125298;8530040;8889549;9660918 7009 B7Z984;F8VPI1;F8VPZ7;F8VQQ5;F8VQW0;F8VR05;F8VSI7;F8VVJ4;F8VX73;F8VY06;F8W086;F8W1G3;F8W1V3;F8W201;P55061 AA057740;ABBA01031532;ABBA01031533;AC084037;AC131157;AF033095;AK026605;AK124849;AK130050;AK130462;AK225804;AK299587;AK304577;AK312238;AMYH02026447;AMYH02026448;AY736129;BC000916;BC036203;BQ613936;CH471111;CQ834362;DA476870;DC319835;DC349385;NM_001098576;NM_003217;X75861;XM_005269126 AAB87479;AAH00916;AAH36203;AAU29521;BAG35171;BAG54105;BAH13075;BAH14220;CAA53472;CAH05396;EAW58089;EAW58090;EAW58091;EAW58092;EAW58093;NP_001092046;NP_003208;P55061;XP_005269183 Hs.743965 1665024;1739605;1772759;1849620;2111398;2185752;5093676 A009U42;D12S1129E;D12S1479E;G32858;RH11178;RH45303;RH70154 BAXI1;BI-1;TEGT OTTHUMP00000241803;OTTHUMP00000241804;OTTHUMP00000241807;OTTHUMP00000241811;OTTHUMP00000241812;OTTHUMP00000241876;bax inhibitor 1;testis enhanced gene transcript;testis enhanced gene transcript (BAX inhibitor 1);testis-enhanced gene transcript protein;transmembrane BAX inhibitor motif-containing protein 6 protein-coding ENSG00000139644 HGNC:11723 02851 600748 VALIDATED 1352795 TMC3 transmembrane channel-like 3 INVOLVED IN ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog) 15 15 15 q25.1 58562739 58604696 - 81624760 81666418 - 81332419 81374077 - 1580863;6480464;8554872 12477932;12812529;12906855;16572171;23793441 342125 H0YK69;Q7Z5M5 ABBA01060637;AC103858;AMYH02030896;AY236490;AY263163;BC132679;BC143410;BC157874;NM_001080532 AAI32680;AAI43411;AAI57875;AAP69868;AAP78778;NP_001074001;Q7Z5M5 Hs.253489 1338589;1760909;1766155;1851028;2166543 D15S1041;D15S1305;SHGC-144659;SHGC-149530;STS-N32157 transmembrane channel-like protein 3 protein-coding HGNC:22995 PROVISIONAL 1351267 TMC6 transmembrane channel-like 6 Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 72704979 72724886 - 76108999 76128488 - 78112918 78132407 - 6480464;7240710;8554872;8699517 10084299;10844558;12426567;12477932;12812529;12906855;14702039;15042430;15489334;16487602;17008061;17081983;18158319;19706093;21387292;21906983;21963094;22761942;23400010;23535066 11322 K7ELP1;K7ENC4;K7ENM6;K7ERH0;Q7Z403 AB002405;ABBA01002943;ABBA01002944;AC021593;AK021738;AK074065;AK096076;AK303165;AK303584;AK310734;AMYH02034048;AY057379;AY099356;AY099357;AY236496;BC007766;BC018346;BC023597;BC035648;CH471099;DQ104440;NG_007879;NM_001127198;NM_007267;XM_005256995;XM_005256996;XM_005256997;XM_005256998;XR_243632 AAH07766;AAH18346;AAH23597;AAH35648;AAL25836;AAM44452;AAM44453;AAP69874;AAZ20186;ABM83242;ABM86444;BAA24179;BAB13884;BAB84891;BAG53207;BAG64265;BAG64602;EAW89487;EAW89488;EAW89489;EAW89490;EAW89491;EAW89492;EAW89493;NP_001120670;NP_009198;Q7Z403;XP_005257052;XP_005257053;XP_005257054;XP_005257055 Hs.632227 1335074;1338539;1340537;1341087;5015619;5024756 D11S3114;D17S1802;D17S1839;D17S802;D17S939;RH80030 EV1;EVER1;EVIN1;FLJ17776;LAK-4P epidermodysplasia verruciformis 1;epidermodysplasia verruciformis protein 1;expressed in activated T/LAK lymphocytes;protein LAK-4;transmembrane channel-like protein 6 APPROVED protein-coding ENSG00000141524 HGNC:18021 08386 226400;605828 REVIEWED 1312473 TMC4 transmembrane channel-like 4 INVOLVED IN ion transport (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH calcitriol; coumestrol; hydrogen peroxide 19 19 19 q13.42 51705119 51718235 - 54663833 54676944 - 54160095 54173250 - 1580863;6480464 12477932;12812529;12906855;16341674;8889548 147798 C9JFU4;Q7Z404 AA578987;ABBA01068172;AC012314;AC245052;AK314973;AY236492;AY263166;BC025323;BC032477;BQ082417;BU680152;CH471135;CU151838;CU457734;KF511280;NM_001145303;NM_144686;XM_005258548;XM_005277069;XM_005277247;XM_005277298;XM_005278256;XM_006725635;XM_006725762;XM_006725862;XM_006725863;XM_006725950;XM_006725951;XM_006726049;XM_006726050;XM_006726147;XM_006726148;XM_006726187;XM_006726188;XR_243903;XR_254256;XR_254317;XR_430981;XR_431001;XR_431020;XR_431050;XR_431062 AAH25323;AAH32477;AAP69870;AAP78781;ABM83107;ABM86303;BAG37472;EAW72196;EAW72197;EAW72198;NP_001138775;NP_653287;Q7Z404;XP_005258605;XP_005277126;XP_005277304;XP_005277355;XP_005278313;XP_006725698;XP_006725825;XP_006725925;XP_006725926;XP_006726013;XP_006726014;XP_006726112;XP_006726113;XP_006726210;XP_006726211;XP_006726250;XP_006726251 Hs.355126 1681985;1697682;1734664;1800184;1800412;1804950;1808734;1816904;1820662;1820718;1822458;1828446;1836000;1838472;1845092;1846631;1855201;2041468;2041470;2041472;2041474;2041476;2041478;2041480;2041482;2041484;2041486;2041488;2041490;2041492;2041494;2041496;2041498;2041500;2041502;2041504;2041506;2041508;2041510;2041512;2041514;2041516;2041518;2041520;2041522;2041524;2041526;2041528;2041530;2041532;2041534;2041536;2041538;2041540;2041542;2041544;2041546;2041548;2041550;2041552;2041554;2041556;2041558;2041560;2041562;2041564;2041566;2041568;2041570;2041572;2041574;2103638;2103640;2103642;2103644;2103646;2103648;2103650;2103652;2103654;2103656 A003B05;D19S668E;D2S2687;ECD00949;ECD01066;ECD03415;ECD05349;ECD09501;ECD11406;ECD11434;ECD12317;ECD15349;ECD19161;ECD20410;ECD23763;REN91769;REN91770;REN91771;REN91772;REN91773;REN91774;REN91775;REN91776;REN91777;REN91778;REN91779;REN91780;REN91781;REN91782;REN91783;REN91784;REN91785;REN91786;REN91787;REN91788;REN91789;REN91790;REN91791;REN91792;REN91793;REN91794;REN91795;REN91796;REN91797;REN91798;REN91799;REN91800;REN91801;REN91802;REN91803;REN91804;REN91805;REN91806;REN91807;REN91808;REN91809;REN91810;REN91811;REN91812;REN91813;REN91814;REN91815;REN91816;REN91817;REN91818;REN91819;REN91820;REN91821;REN91822;RH102357;RH93451;stSG605836;stSG605837;stSG605839;stSG605840;stSG605841;stSG605842;stSG605844;stSG605845;stSG605846;stSG605847 MGC39329 OTTHUMP00000069305;OTTHUMP00000081757;transmembrane channel-like protein 4 protein-coding ENSG00000167608 HGNC:22998 15515 VALIDATED 1344679 TMC7 transmembrane channel-like 7 INVOLVED IN ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 16 16 16 p12.3 18143493 18223144 + 18995256 19075264 + 18983934 19063942 + 1580863;6480464;8554872 12477932;12812529;12906855;14702039;16344560;21906983;22566498 79905 H3BNW8;Q7Z402 ABBA01028252;ABBA01028253;ABBA01028254;ABBA01028255;ABBA01028256;AC099518;AF088010;AK024893;AK094664;AK293874;AMYH02031634;AMYH02031635;AY236498;AY263165;BC036205;BC047719;CH471186;CR933669;DA161026;NM_001160364;NM_001300732;NM_024847;XM_005255597;XM_005255600;XM_006721094;XM_006721095 AAH36205;AAH47719;AAP69876;AAP78780;BAB15032;BAG52905;BAG57263;CAI45966;EAW50266;EAW50267;NP_001153836;NP_001287661;NP_079123;Q7Z402;XP_005255654;XP_005255657;XP_006721157;XP_006721158 Hs.187377;Hs.531661 1337468;1685459;5015961;7187394 D15S1477;D16S410;RH92994 DKFZp781O2274;FLJ21240 OTTHUMP00000162158;transmembrane channel-like protein 7 protein-coding ENSG00000170537 HGNC:23000 15517 VALIDATED 1315994 TMC5 transmembrane channel-like 5 INVOLVED IN ion transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 8-bromo-3',5'-cyclic AMP; all-trans-retinoic acid 16 16 16 p12.3 18570439 18659459 + 19421839 19510435 + 19410735 19499113 + 1580863;6480464;8554872 12477932;12812529;12906855;12975309;14702039;16344560;18649358;20379614;21988832;23728906 79838 B7Z946;F5GYU8;H3BN68;I3L0P3;I3L469;Q6UXY8 ABBA01028261;ABBA01028262;ABBA01028263;AC130456;AI738488;AK023655;AK093944;AK097718;AK131202;AK299055;AK304431;AMYH02031644;AMYH02031645;AMYH02031646;AMYH02031647;AMYH02031648;AMYH02031649;AY236494;AY263164;AY358155;BC027602;BC038118;BC070101;CH471186;CR749359;DB222660;NM_001105248;NM_001105249;NM_001261841;NM_024780;XM_005255585 AAH27602;AAH38118;AAP69872;AAP78779;AAQ88522;BAB14629;BAG52791;BAG53520;BAG54750;BAH12939;BAH14182;CAH18212;EAW50279;EAW50280;EAW50281;NP_001098718;NP_001098719;NP_001248770;NP_079056;Q6UXY8;XP_005255642 Hs.115838 1340954;1666970;1679019;1737587;2167623;5017441;5037552 D16S2673;D16S490;D8S2279;RH16576;RH65513;RH93186;TTAT023 FLJ13593 OTTHUMP00000162160;OTTHUMP00000162161;transmembrane channel-like protein 5 protein-coding ENSG00000103534 HGNC:22999 15516 VALIDATED 1318596 TMC1 transmembrane channel-like 1 This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008] 9 9 9 q21.12 45709595 46024123 + 75136717 75451267 + 72521801 72836351 + 1599440;1580863;6480464;7240710;8554872;8699517 11850618;11850623;12477932;12812529;14702039;15605408;16287143;17877751;18259073;18616530;18976975;19180119;19187973;20301607;20373850;20379614;20447146;21145461;21250555;21252500;22288896;23523375;23690975;8634715;8755925 117531 Q3MI88;Q8TDI8 ABBA01033860;ABBA01033861;ABBA01033862;ABBA01033863;ABBA01033864;ABBA01033865;AF417578;AK098607;AK307461;AL162416;AL449323;AL590662;AL591662;AMYH02020982;AMYH02020983;AMYH02020984;BC103955;BC103956;BC114380;BC114449;BC141860;CH471089;NG_008213;NM_138691;XR_428515;XR_428516 AAI03956;AAI03957;AAI14381;AAI41861;AAI56562;AAI72523;AAL86399;BAC05351;EAW62539;EAW62540;EAW62541;NP_619636;Q8TDI8 Hs.670211 1335135;1338278;1341274;1696004;1709140;1713293;1721311;1726933;1759633;1765337;1779708;1787034;2129291;2143147;5094166 D2S2650;D9S1124;D9S1837;D9S1876;G54585;G59654;G62710;RH120638;SHGC-148828;SHGC-151241;SHGC-152476;SHGC-153684;SHGC-3163;SHGC-82771;SHGC-85731 DFNA36;DFNB11;DFNB7 OTTHUMP00000021473;transmembrane channel-like protein 1;transmembrane cochlear-expressed protein 1;transmembrane, cochlear expressed, 1 APPROVED protein-coding ENSG00000165091 HGNC:16513 05988 600974;606705;606706 REVIEWED 1353841 TMC8 transmembrane channel-like 8 Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 72723257 72735447 + 76125505 76139049 + 78129424 78142968 + 6480464;7240710;8554872;8699517 10844558;12426567;12477932;12812529;12906855;14702039;15489334;17081983;17711520;17960179;18158319;18224692;19706093;21196704;21387292;22158547;22761942;22903682;23429285;23535066 147138 B3KXZ8;K7EJ72;Q8IU68 ABBA01002943;AC021593;AK090478;AK097987;AK125672;AK128327;AK303499;AK310623;AL834508;AMYH02034048;AY057380;AY099358;AY099359;AY236500;BC028076;BC110296;BC141865;CH471099;DC407759;NG_007881;NM_152468;XM_006721725;XM_006721726;XR_243639;XR_429870 AAI10297;AAI41866;AAL25837;AAM44454;AAM44455;AAP69878;BAC03459;BAG54660;BAG64532;EAW89494;EAW89495;EAW89496;EAW89497;NP_689681;Q8IU68;XP_006721788;XP_006721789 Hs.592102 EV2;EVER2;EVIN2;FLJ40668;FLJ43684;MGC102701;MGC40121 epidermodysplasia verruciformis 2;epidermodysplasia verruciformis protein 2;transmembrane channel-like protein 8 APPROVED protein-coding ENSG00000167895 HGNC:20474 08387 226400;605829 REVIEWED 1320766 TMC2 transmembrane channel-like 2 This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, expression in the inner ear suggests that it may be crucial for normal auditory function. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Jul 2008] 20 20 20 p13 2581686 2686898 + 2517253 2622494 + 2536607 2641848 + 1580863;6480464;8554872 11076863;11780052;11850618;12477932;12812529;12906855;12975309;14702039;16344560;18259073;21408207;23251661 117532 Q8TDI7 ABBA01053792;ABBA01053793;ABBA01053794;ABBA01053795;AF417580;AK094789;AK127751;AK294013;AK309782;AK316261;AL049712;AMYH02036583;AMYH02036584;AY358613;CH471133;DA769512;NM_080751;XM_005260660;XM_006723539 AAI11451;AAL86401;AAQ88976;BAC04423;BAG57374;BAH14632;EAX10591;EAX10592;EAX10593;NP_542789;Q8TDI7;XP_005260717;XP_006723602 Hs.352626 1662849;1673248;1693354;1693388;1740313;1775713;5020948;5022200 074WA9;AL034506;AL034535;DXS7958;G35510;L18426;Z94349;Z94495 C20orf145;dJ686C3.3 OTTHUMP00000030020;transmembrane channel-like protein 2;transmembrane cochlear-expressed protein 2;transmembrane, cochlear expressed, 2 APPROVED protein-coding ENSG00000149488 HGNC:16527 09463 606707 VALIDATED 1344956 TMCC1P1 transmembrane and coiled-coil domain family 1 pseudogene 1 8 8 8 q23.1 102394100 102396856 - 106206936 106209692 - 105194708 105197464 - 100128132 ABBA01037659;AC021546;AMYH02018561;NG_016605 TMCC1P APPROVED pseudo HGNC:31901 INFERRED 1603584 TMCO2 transmembrane and coiled-coil domains 2 FOUND IN nucleus; INTERACTS WITH pirinixic acid 1 1 1 p34.2 38995962 38999753 + 40713573 40717365 + 40247901 40251693 + 6480464 12477932;15489334;16710414 127391 Q7Z6W1 ABBA01023180;ABBA01023181;AL050341;AMYH02000848;BC108666;BU567634;BU569147;CH471059;DB518323;HC006910;HC044827;NM_001008740 AAI08667;CBH19260;CBH30743;EAX07235;NP_001008740;Q7Z6W1 Hs.406265 1339357;1689119 D1S2743;RH92561 MGC131705;dJ39G22.2 OTTHUMP00000006396;dJ39G22.2 (novel protein);transmembrane and coiled-coil domain-containing protein 2 protein-coding ENSG00000188800 HGNC:23312 18369 VALIDATED 1346306 TMCC2 transmembrane and coiled-coil domain family 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH amiodarone; caffeine; diazinon 1 1 1 q32.1 178332120 178377550 + 205197038 205242471 + 205227910 205273343 + 737633;1580863;6480464 12477932 12168954;12975309;14702039;15345747;16169070;19019082;19820697;21832049;22139419;24026423;8889548;8889549;9455484 9911 A6NJC0;G5E963;O75069 AB001596;AB007950;ABBA01027421;ABBA01027422;ABBA01027423;ABBA01027424;AC093422;AK094913;AK095816;AK131419;AK293734;AK314398;AMYH02002545;AMYH02002546;AMYH02002547;AY358192;BC041019;BC053876;BC131629;BM674135;BQ222504;CA313737;CH471067;DC309246;NM_001242925;NM_001297611;NM_001297613;NM_014858;T51366;XM_005245684;XM_005245685;XM_005245686;XM_005245689;XM_005245690;XM_006711694 AAH41019;AAH53876;AAI31630;AAQ88559;BAA32326;BAB46924;BAD18566;BAG37022;BAG53139;BAH11583;EAW91545;EAW91546;EAW91547;EAW91548;NP_001229854;NP_001284540;NP_001284542;NP_055673;O75069;XP_005245741;XP_005245742;XP_005245743;XP_005245746;XP_005245747;XP_006711757 Hs.6360 1649502;1725725;1730281;1850336;2129309;2139614 A001X19;D1S2382;D1S269E;D1S3016;G62057;RH64506 FLJ38497;HUCEP11;KIAA0481 OTTHUMP00000035315;cerebral protein 11;transmembrane and coiled-coil domains 2;transmembrane and coiled-coil domains protein 2 protein-coding ENSG00000133069 HGNC:24239 11040 VALIDATED 1346901 TMCC3 transmembrane and coiled-coil domain family 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 3,4-dichloroaniline; calcitriol; diuron 12 12 12 q22 94632124 94715494 - 94960900 95044324 - 94567124 94650548 - 737633;1580863;6480464;8554872 12477932 10574461;10574462;10737800;15489334;20306291;20379614;21145461 57458 F8VQF2;G3V207;Q9ULS5 AB032971;AB073655;ABBA01053361;AC026672;AI361720;AMYH02026954;AMYH02026955;AMYH02026956;AMYH02026957;BC040535;BE158711;CA772279;CH471054;DA138430;NM_001301036;NM_020698;XM_005269039;XM_005269040;XM_005269041 AAH40535;ACE86615;ACE87296;BAA86459;EAW97510;EAW97511;EAW97512;NP_001287965;NP_065749;Q9ULS5;XP_005269096;XP_005269097;XP_005269098 Hs.370410;Hs.634139 1652328;1664575;1664577;1736214;1743243;1768380;1778205;2145820;2145822;2167831;2186349;2186351;5093154 A002A23;A005Z04;A009H35;D12S1159E;D12S1854;G19852;G20612;G32552;GDB:312698;RH45150;SHGC-16729;STS-Z41138;WI-20062 KIAA1145 OTTHUMP00000243322;OTTHUMP00000243323;transmembrane and coiled-coil domains 3;transmembrane and coiled-coil domains protein 3 protein-coding ENSG00000057704 HGNC:29199 15519 VALIDATED 1601866 TMCO1 transmembrane and coiled-coil domains 1 This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] 1 1 1 q22-q25 138798944 138843546 - 165693528 165738159 - 165724291 165768922 - 6480464;8699517;7240710 10393320;12477932;12975309;14702039;15146197;15342556;15489334;16565220;16710414;17081983;19322201;19536175;20018682;20639865;21139048;21532571;21890473;21903422;21906983;21963094;22268729;22505724;22570627;22714896;22939629;23000965;23963167;24002674;24194475;24816145;8619474;9110174 54499 B7Z591;J3KS45;J3KTQ7;J3QQY2;J3QRB3;J9JIE6;Q9UM00 AB020980;ABBA01047274;ABBA01047275;ABBA01047276;ABBA01047277;ABBA01047278;AF070626;AF274935;AF277194;AI379550;AK298614;AK316080;AK316610;AL451074;AMYH02002066;AY359027;AY763589;BC000104;BG772940;BP257387;CH471067;CN430121;NG_032004;NM_001256164;NM_001256165;NM_019026;NR_045818 AAC25388;AAH00104;AAK07514;AAK07549;AAQ89386;AAV34755;BAA86974;BAG38197;BAH12827;BAH14451;EAW90762;EAW90763;EAW90764;EAW90765;NP_001243093;NP_001243094;NP_061899;Q9UM00 Hs.31498 1669232;1851731;1857544;5017572 RH69472;TMCO1;WI-14174;WI-16096 CFSMR;HP10122;PCIA3;PNAS-136;RP11-466F5.7;TMCC4 OTTHUMP00000032603;putative membrane protein;transmembrane and coiled-coil domain-containing protein 1;transmembrane and coiled-coil domains 4;transmembrane and coiled-coil domains protein 4;xenogeneic cross-immune protein PCIA3 APPROVED protein-coding ENSG00000143183 HGNC:18188 14243 213980;614123 REVIEWED 1349742 TMCC1 transmembrane and coiled-coil domain family 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 3 3 3 q22.1 127793335 128039062 - 129366635 129612419 - 129647792 129893596 - 737633;1580863;6480464;8554872 12477932 12107410;15489334;16344560;17081983;20379614;21139048;21906983;24454821;8889549;9872452 23023 D6RBT7;D6RH19;E9PC87;O94876;Q6N039 AA285018;AB018322;ABBA01059214;ABBA01059215;ABBA01059216;ABBA01059217;ABBA01059218;ABBA01059219;ABBA01059220;ABBA01059221;ABBA01059222;ABBA01059223;ABBA01059224;AC023162;AC083799;AC117492;AI609644;AK124671;AK291448;AK293408;AL449209;AMYH02007645;AMYH02007646;AMYH02007647;AMYH02007648;AMYH02007649;AMYH02007650;AMYH02007651;AMYH02007652;BC012480;BC030619;BC034284;BC039859;BC047517;BM504779;BX640712;CA389758;CA867002;CH471052;CR749206;DB085398;NM_001017395;NM_001128224;NR_033361;XM_006713542;XM_006713543;XM_006713544;XM_006713545;XM_006713546;XM_006713547;XM_006713548;XM_006713549;XM_006713550;XM_006713551;XM_006713552;XM_006713553;XM_006713554 AAH34284;AAH39859;BAA34499;BAF84137;BAG54066;BAG56915;CAE45831;CAH18064;EAW79231;EAW79232;EAW79233;EAW79234;EAW79235;EAW79236;NP_001017395;NP_001121696;O94876;XP_006713605;XP_006713606;XP_006713607;XP_006713608;XP_006713609;XP_006713610;XP_006713611;XP_006713612;XP_006713613;XP_006713614;XP_006713615;XP_006713616;XP_006713617 Hs.477547 1648526;1654601;1661916;1719137;1735144;1735202;1738883;1738885;1752625;1847777;1857494;2121299;2126628;2131421;2132423 1112;D3S2803E;D3S2862E;D3S3166;D3S3169;D3S4022;RH11866;RH12222;RH123286;SGC30652;SHGC-106440;SHGC-77336;SHGC-77337;STS-N41038;WI-13993 DKFZp686M0169;FLJ42680 OTTHUMP00000215937;transmembrane and coiled-coil domains 1;transmembrane and coiled-coil domains protein 1 protein-coding ENSG00000172765 HGNC:29116 15518 VALIDATED 1315285 TMCO3 transmembrane and coiled-coil domains 3 ENCODES a protein that exhibits solute:proton antiporter activity (inferred); INVOLVED IN hydrogen ion transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; calcitriol 13 13 13 q34 94973299 95032110 + 114145308 114204544 + 113490993 113550229 + 6480464 12477932;12975309;14702039;15057823;15489334;16344560;19322201;20029029;21906983;21963094 55002 Q6UWJ1 ABBA01019870;ABBA01019871;AF209505;AK000630;AK074415;AL442125;AMYH02028744;AMYH02028745;AMYH02028746;AY358768;BC012564;BC068515;CH471085;DA803233;NM_017905;XM_005268318;XM_005268319;XM_006719969;XM_006719970;XM_006719971;XM_006719972;XM_006719973 AAH12564;AAH68515;AAM92892;AAQ89128;BAA91295;BAB85074;EAX09212;EAX09213;EAX09214;EAX09215;NP_060375;Q6UWJ1;XP_005268375;XP_005268376;XP_006720032;XP_006720033;XP_006720034;XP_006720035;XP_006720036 Hs.317593 2168121 RH78830 C13orf11;FLJ20623 B230339H12Rik;OTTHUMP00000018770;chromosome 13 open reading frame 11;putative LAG1-interacting protein;transmembrane and coiled-coil domain-containing protein 3 protein-coding ENSG00000150403 HGNC:20329 12612 VALIDATED 1606122 TMCO4 transmembrane and coiled-coil domains 4 FOUND IN integral component of membrane (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cadmium dichloride (ortholog) 1 1 1 p36.13 18335477 18453240 - 20008706 20126424 - 19682213 19799931 - 6480464 12477932;20379614;8889548 255104 Q5TGY1;Q6ZSC6 ABBA01059767;ABBA01059768;AK127543;AK309310;AK309900;AL031727;AL031730;AL049846;AL049847;AL391883;AL832390;AMYH02000422;AMYH02000423;AX775873;AX775875;AX775877;BC053600;BM974434;BX640987;CH471134;KF495882;KF495886;NM_181719;XM_005245822;XM_005245823;XM_005245824;XM_005245825;XM_005245827;XM_006710550;XM_006710551 AAH53600;ACE86940;ACE87628;BAC87027;CAB42850;CAB42851;CAE11636;CAE11637;CAE11638;CAE45994;EAW94897;EAW94898;EAW94899;EAW94900;EAW94901;EAW94902;EAW94903;NP_859070;Q5TGY1;XP_005245879;XP_005245880;XP_005245881;XP_005245882;XP_005245884;XP_006710613;XP_006710614 Hs.656313 1692490;1733146;1733166;1781550;2114330;2187799 AL033896;D1S1457;D1S1470;G69459;SHGC-144247;SHGC-74314 DKFZp686C23231;RP5-1056L3.6 OTTHUMP00000002783;OTTHUMP00000002784;transmembrane and coiled-coil domain-containing protein 4 protein-coding ENSG00000162542 HGNC:27393 14140 VALIDATED 2306722 TMCO5B transmembrane and coiled-coil domains 5B, pseudogene FOUND IN integral component of membrane (inferred) 15 15 15 q13.3 10335413 10340485 - 33528677 33539756 - 33236476 33247555 - 16344560;16572171;19096130 100652857 A8MYB1 ABBA01038558;ABBA01038559;AC055874;AK098530;AMYH02030134;AMYH02030135;DB054691;NR_046005 A8MYB1 Hs.439998 FLJ25664 transmembrane and coiled-coil domain-containing protein 5B;transmembrane and coiled-coil domains 5B APPROVED pseudo HGNC:34243 VALIDATED 1606151 TMCO5A transmembrane and coiled-coil domains 5A FOUND IN integral component of membrane (inferred); INTERACTS WITH kojic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 15 15 15 q14 14993884 15010043 + 38226801 38243623 + 37934600 37951422 + 6480464 12477932;14702039;19679847;21577013 145942 H0YL40;H0YLD3;H0YLN2;H0YLW5;H0YMD4;Q8N6Q1 ABBA01038487;AC091005;AK093126;AK310517;AMYH02030210;BC029221;CH471125;HC007158;HC044837;NM_152453;XM_005254168 AAH29221;BAC04065;CBH19384;CBH30748;EAW92362;EAW92363;NP_689666;Q8N6Q1;XP_005254225 Hs.179646 FLJ35807;MGC35118;TMCO5 OTTHUMP00000160215;transmembrane and coiled-coil domain-containing protein 5A;transmembrane and coiled-coil domains 5 protein-coding ENSG00000166069 HGNC:28558 11341 PROVISIONAL 7277305 TMCC1-AS1 TMCC1 antisense RNA 1 (head to head) 3 3 q22.1 129612714 129627755 + 129893871 129908912 + 100507032 ABBA01059214;AK127796;AL449209;AL833051;AMYH02007652;AMYH02007653;HG496050;NR_037893 Hs.529562 AL449209.1 ncrna ENSG00000271270 HGNC:49060 VALIDATED 1605060 TMCO6 transmembrane and coiled-coil domains 6 ENCODES a protein that exhibits protein transporter activity (inferred); INVOLVED IN protein import into nucleus (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); nucleus (inferred); INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; diarsenic trioxide 5 5 5 q31.3 136095757 136101734 + 140019012 140024989 + 140639427 140645404 + 6480464 12477932;14702039;16189514;16344560;19423540;19729601;20406964;20438785;24250222 55374 D6R986;D6REQ9;D6REY4;E7ESN7;Q96DC7 AA398902;ABBA01026423;AC116353;AK097088;AK289495;AK301502;AK308722;AMYH02012340;BC001910;BC009618;BC065828;BQ066786;CH471062;DA035906;DB196005;NM_001300980;NM_001300982;NM_018502;XM_005268476;XM_005268477 AAH01910;AAH09618;ABM81913;ABM85089;BAF82184;BAG63013;EAW62032;EAW62033;EAW62034;EAW62035;EAW62036;NP_001287909;NP_001287911;NP_060972;Q96DC7;XP_005268533;XP_005268534 Hs.534333 1657850;2175572;5093984 A010A06;G33038;RH78253 FLJ39769;PRO1580 OTTHUMP00000159877;OTTHUMP00000159878;transmembrane and coiled-coil domain-containing protein 6 protein-coding ENSG00000113119 HGNC:28814 15177 VALIDATED 1354453 TMED1 transmembrane emp24 protein transport domain containing 1 This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 19 19 19 p13.2 10837959 10841828 - 10942743 10946983 - 10832067 10836307 - 1580863;6480464;8554872 11466339;12237308;12477932;15057824;15231748;15489334;18976975;21963094;23246001;23319592;8621446;9472029 11018 K7EIN4;K7EIR1;K7EQ63;K7ER03;K7ERK5;K7ES06;Q13445 ABBA01029894;AC007229;AMYH02035506;AW389310;BC002443;BC018831;BF794897;BI793229;CH471106;HY012010;NM_006858;NR_104015;U41804;XM_006722631 AAC50419;AAD23605;AAH02443;ABM83566;ABM86804;EAW84152;NP_006849;Q13445;XP_006722694 Hs.211463;Hs.515139;Hs.661691 1796094 IL1RL1LG_155 IL1RL1LG;Il1rl1l;MGC1270;ST2L;Tp24 IL1RL1-binding protein;T1/ST2 receptor binding protein;interleukin 1 receptor-like 1 ligand;interleukin-1 receptor-like 1 ligand;p24 family protein gamma-1;p24gamma1;putative T1/ST2 receptor-binding protein;transmembrane emp24 domain containing 1;transmembrane emp24 domain-containing protein 1 APPROVED protein-coding HGNC:17291 05653 605395 REVIEWED 1606664 TMED10P1 transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 8 8 8 q24.3 142397287 142401319 + 146220251 146224283 + 144994865 144998897 + 10376215;8663407 286102 ABBA01005192;AF235103;AJ004914;AMYH02019020;KF458889;NR_002807;X97444 Hs.744580 1668899;1690746;2138936 A002E08;A002P02;RH44072 TMED10P;Tmp21-II APPROVED pseudo HGNC:30754 PROVISIONAL 2946886 TMED11P transmembrane emp24 protein transport domain containing 11, pseudogene INTERACTS WITH potassium dichromate (ortholog) 4 4 4 p16.3 1043419 1051386 - 1108985 1116952 - 1115197 1123164 - 6480464 11329013;19429673;19566487 100379220 AA887029;ABBA01019357;AC092535;AMYH02008573;BG190838;BG215779;DY654917;NR_033768 Hs.635208 pseudo ENSG00000215367 HGNC:35401 VALIDATED 735876 TMED2 transmembrane emp24 domain trafficking protein 2 INVOLVED IN Golgi organization; intracellular protein transport; negative regulation of GTPase activity; FOUND IN endoplasmic reticulum; endoplasmic reticulum-Golgi intermediate compartment; Golgi apparatus; INTERACTS WITH 17beta-estradiol; 2,3-dimethoxynaphthalene-1,4-dione; copper(2+) sulfate 12 12 12 q24.31 123665514 123679126 + 124069076 124082688 + 123584529 123598141 + 6480464 10214941;10359607;10761932;11703931;11739402;12237308;12477932;15308636;15489334;16641999;17693410;18029348;18187620;18287528;19322201;20360068;20361938;21139048;21219331;21963094;21988832;22212250;22939629;23246001;8663407;8703076;9472029 10959 E7EQ72;F5GX39;Q15363;Q6FHT8 ABBA01060397;AC055713;AK024976;AK298167;AK303189;AK312975;AMYH02027457;BC025957;BI086507;CH471054;CR541663;CR541682;NM_006815;X92098;XM_005253544 AAH25957;BAG35812;BAG60439;BAG64282;CAA63069;CAG46464;CAG46483;EAW98417;EAW98418;NP_006806;Q15363;XP_005253601 Hs.733403 1644315;1665566;1680048;2124286;2130922 D6S1166E;D9S2014;RH124;SGC31333;WI-15890 FLJ21323;P24A;RNP24;p24 OTTHUMP00000239192;OTTHUMP00000239194;coated vesicle membrane protein;membrane protein p24A;p24 family protein beta-1;p24beta1;transmembrane emp24 domain-containing protein 2 protein-coding ENSG00000086598 HGNC:16996 17984 VALIDATED 1347293 TMED3 transmembrane emp24 protein transport domain containing 3 INVOLVED IN protein transport (inferred); transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; endoplasmic reticulum-Golgi intermediate compartment; Golgi apparatus; INTERACTS WITH 5-aza-2'-deoxycytidine; 5-azacytidine; cisplatin 15 15 15 q24-q25 56540059 56551758 + 79603404 79675802 + 79311062 79383460 + 737633;6480464;8554872 12477932 11739402;12237308;12975309;15489334;17991893;21963094;22761906;24250222;8125298 23423 F5H4M7;G3V1J9;Q9Y3Q3 ABBA01060605;AC011797;AC027811;AI243096;AJ132270;AK075529;AK222516;AK289434;AK297710;AK304148;AL109672;AL109673;AMYH02030877;AY358974;BC000027;BC010853;BC017495;BC022232;BC111547;BM549126;BM699123;BP260160;CH471136;CR457384;KF459564;NM_001301203;NM_007364;NR_125394;XM_005254263 AAH00027;AAH10853;AAH17495;AAH22232;AAI11548;AAQ89333;BAC11674;BAD96236;BAF82123;BAG60067;BAG65039;CAB40416;CAB52017;CAB52018;CAG33665;EAW99138;EAW99139;NP_001288132;NP_031390;Q9Y3Q3;XP_005254320 Hs.513058;Hs.665470 1686857;2131488;2139214;2152376;2153575;5018031 A004H32;P24B_(-249G>T);RH1638;RH48894;RH78006;WI-15355 C15orf22;MGC133022;P24B;p26 1200002G13Rik;OTTHUMP00000185563;integral type I protein;membrane protein p24B;p24 family protein gamma-4;p24gamma4;transmembrane emp24 domain containing 3;transmembrane emp24 domain-containing protein 3 protein-coding ENSG00000166557 HGNC:28889 18200 VALIDATED 3207497 TMED10P2 transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 2 3 3 3 q21.3 126684829 126685443 + 128256860 128257474 + 128538017 128538631 + 100129727 ABBA01020898;AC080005;AMYH02007620;NG_023009 pseudo HGNC:38105 INFERRED 1352955 TMED4 transmembrane emp24 protein transport domain containing 4 ENCODES a protein that exhibits signal transducer activity; INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; signal transduction; FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene diol epoxide I; copper atom; copper(0) 7 7 7 p13 44717606 44720671 - 44617493 44621881 - 44579163 44582228 - 1331357;1580863;6480464 12761501 11076863;11230166;12477932;12690205;15489334;15489336;16303743;16381901;18326488;19322201;20360068;20682791;21139048;21890473;21906983;21963094;22190034;22939629;23000965;24250222;24816145;8076819 222068 F8W7F7;Q7Z7H5 AB097009;ABBA01058223;AC004938;AK074557;AK290125;AK294122;AMYH02015622;AY191223;BC001576;BC025705;BC035467;BC052641;BC053583;BC057851;BX647965;CH236960;CH471128;NM_182547 AAH52641;AAH57851;AAP20105;BAC11058;BAC77362;BAF82814;BAG57455;CAL38079;CAL38591;EAL23751;EAW61090;EAW61091;EAW61092;NP_872353;Q7Z7H5 Hs.598832;Hs.715273 1852265;2145375;2177595;5015861;5015961;5016478;5016781;5020881;5020944;5037552;7185938 AF044685;D10S16;D15S1477;D7S2329;D8S2279;GDB:434012;L17709;RH16159;SGC33863;SHGC-67307 ERS25;HNLF GMP25iso;OTTHUMP00000159498;OTTHUMP00000207699;OTTHUMP00000207700;endoplasmic reticulum stress-response protein 25 kDa;p24 family protein alpha-3;p24alpha3;putative NF-kappa-B-activating protein 156;putative NFkB activating protein HNLF;transmembrane emp24 domain-containing protein 4 protein-coding HGNC:22301 13666 612038 PROVISIONAL 1349482 TMED5 transmembrane emp24 protein transport domain containing 5 INVOLVED IN Golgi ribbon formation; FOUND IN cis-Golgi network; endoplasmic reticulum exit site; endoplasmic reticulum-Golgi intermediate compartment; INTERACTS WITH 4-phenylbutyric acid; clorgyline; copper(2+) sulfate 1 1 1 p22.1 91869455 91900413 - 93615299 93646246 - 93149742 93180689 - 737633;1580863;6480464 12477932 10810093;12975309;15308636;15489334;16710414;17207965;18549622;19948005;21139048;21906983;21963094;23455924;24250222;8889548 50999 B1AKT3;M0R072;Q9Y3A6 ABBA01045526;AC126124;AF151858;AI436590;AK125882;AK293308;AK312787;AL080084;AL117354;AMYH02001494;AY359039;BC016365;BC016556;BC023274;BC038511;BC070051;BX642274;CA314982;CH471097;CR936808;KF454984;NM_001167830;NM_016040;NR_030761 AAD34095;AAH16365;AAH16556;AAH38511;AAH70051;AAQ89398;ADQ31881;BAG35650;BAG56828;EAW73081;EAW73082;NP_001161302;NP_057124;Q9Y3A6 Hs.482873 1665420;1696218;1849485;1855799;2120768;2130207;2132375;2132516;2134147;2150450;5014029;5015861;5016478;7185938 AL009805;D10S16;D13S1639;D1S309E;G29243;GDB:434012;HUM0S14E06;RH64504;RH66180;RH68402;SHGC-75141;SHGC-78762;WI-20561 CGI-100;DKFZp781B2248;RP5-976O13.2;p28 OTTHUMP00000011847;OTTHUMP00000012323;OTTHUMP00000012324;p24 family protein gamma-2;p24gamma2;transmembrane emp24 domain-containing protein 5 protein-coding ENSG00000117500 HGNC:24251 13028 VALIDATED 1346090 TMED6 transmembrane emp24 protein transport domain containing 6 INVOLVED IN transport (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; cyclosporin A 16 16 16 q22.1 53891689 53900252 - 69377149 69385712 - 69343246 69351809 - 737633;1580863;6480464 12477932 12975309;15489334 146456 Q8WW62 AA804957;ABBA01025527;AC026464;AMYH02032277;AY358268;BC020827;BI600655;CH471092;CS300673;NM_144676 AAH20827;AAQ88635;ABM82323;ABM85502;CAK32337;EAW83272;NP_653277;Q8WW62 Hs.729118 1675425;1690234;1782584 RH92410;RH94251;SHGC-112423 MGC23911;PRO34237;SPLL9146 OTTHUMP00000174892;p24 family protein gamma-5;p24gamma5;transmembrane emp24 domain-containing protein 6 protein-coding ENSG00000157315 HGNC:28331 15520 VALIDATED 1342694 TMED7 transmembrane emp24 protein transport domain containing 7 INVOLVED IN protein transport (inferred); transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; endoplasmic reticulum-Golgi intermediate compartment; extracellular vesicular exosome; INTERACTS WITH cyclosporin A; piroxicam; tunicamycin 5 5 5 q22.3 110898179 110911150 - 114948905 114961876 - 115613208 115626179 - 737633;1580863;6480464;8554872 12477932 10359607;10810093;12237308;14702039;15489334;16303743;16344560;17207965;19322201;21048031;21906983;21963094;21988832;22426228;9490301 51014 G3V2Y2;Q9Y3B3 AB002450;AB002451;ABBA01069032;AC010226;AK027512;AK074962;AK304210;AMYH02012005;BC019349;BC107426;CH471086;CQ783319;CQ783782;DB152125;DC321837;NM_181836 AAH19349;AAI07427;ADQ31606;BAB55166;BAC11318;BAG65083;CAF86531;CAF86859;EAW48959;NP_861974;Q9Y3B3 Hs.642817;Hs.718838 1674474;1735434;1857883;2166959 D5S1568E;D5S1751;D5S2628;RH16469 CGI-109;FLJ57776;FLJ90481;p27 OTTHUMP00000162867;OTTHUMP00000162868;p24 family protein gamma-3;p24gamma3;transmembrane emp24 domain-containing protein 7 protein-coding ENSG00000134970 HGNC:24253 13029 VALIDATED 2837468 TMED7-TICAM2 TMED7-TICAM2 readthrough This locus represents naturally occurring read-through transcription between the neighboring transmembrane emp24 protein transport domain containing 7 (TMED7) and toll-like receptor adaptor molecule 2 (TICAM2) genes. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with the products of each individual gene. This fusion product functions to negatively regulate the adaptor MyD88-independent toll-like receptor 4 pathway. [provided by RefSeq, Nov 2010] 5 5 5 110863614 110911150 - 114914339 114961876 - 115578642 115626179 - 6484113;6480464;8554872 12477932;12721283;16303743;19412184;20967262;21906983;21963094 100302736 Q86XR7;Q9Y3B3 ABBA01069032;AC010226;AK075218;AMYH02012005;AY275836;AY304581;AY304583;AY304584;BC064944;CH471086;NM_001164468;NM_001164469 AAP81748;AAQ97430;AAQ97432;AAQ97433;BAC11479;EAW48961;NP_001157940;NP_001157941 1643912;1674474;1684868;1700582;1722603;1735434;1857883;2113796;2150059;2166959;2218826 AB055258;D5S1568E;D5S1751;D5S2628;G60385;RH103913;RH16469;RH93272;SHGC-56897;TIRP__5265;WI-11806 FLJ90737;TAG OTTHUMP00000162868;OTTHUMP00000219409;TMED7-TICAM2 read-through transcript;TRAM adaptor with GOLD domain APPROVED protein-coding ENSG00000243414;ENSG00000251201 HGNC:33945 VALIDATED 1347349 TMED8 transmembrane emp24 protein transport domain containing 8 INVOLVED IN transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH afimoxifene; aflatoxin B1; benzo[a]pyrene diol epoxide I 14 14 14 q24.3 57846691 57881972 - 77805102 77843396 - 77338759 77377053 - 6480464;8554872 12477932;12508121;14702039;15334068;15489334;18029348;21890473 283578 Q6PL24;Q86T10 ABBA01030653;ABBA01030654;AC007954;AK025695;AK095650;AMYH02029568;AMYH02029569;AMYH02029570;AX400067;AY598329;BC101510;BX248262;CH471061;NM_213601;XM_005267544 AAF62560;AAI01511;AAT06740;BAG53098;CAD33511;CAD62590;EAW81282;EAW81283;NP_998766;Q6PL24;XP_005267601 Hs.200413;Hs.26403 1646126;1681149;1772997;1854238;2140862;2142534;5124041 G35470;G36038;G36133;G36154;RH80645;RH99083;SHGC-35865 FAM15B;MGC126559 OTTHUMP00000246416;family with sequence similarity 15, member B;transmembrane emp24 domain containing 8 protein-coding HGNC:18633 18201 PROVISIONAL 735335 TMEFF1 transmembrane protein with EGF-like and two follistatin-like domains 1 INVOLVED IN multicellular organismal development (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; afimoxifene 9 9 9 q31 73748953 73853138 + 103235520 103339918 + 100473238 100577636 + 6480464 12477932;12743596;14563676;20583170;8752111;9730596 8577 Q8IYR6 ABBA01042885;AL353805;AL354917;AMYH02021340;AMYH02021341;BC021991;BC035056;BF436262;CH471105;DN602026;NM_003692 AAH35056;ABM82658;ABM85835;EAW58936;NP_003683;Q8IYR6 Hs.598100 1338090;1648421;1716709;1772087;2108577;2170843;2170845;2181992 A007J17;D9S1857;D9S2032;RH121613;RH47334;RH47356;SHGC-57676;TMEFF1_8835 C9orf2;CT120.1;H7365;TR-1 OTTHUMP00000021798;OTTHUMP00000220352;cancer/testis antigen family 120, member 1;tomoregulin-1;transmembrane protein with EGF-like and one follistatin-like domain protein-coding ENSG00000241697 HGNC:11866 04570 603421 VALIDATED 1344143 TMED9 transmembrane emp24 protein transport domain containing 9 ENCODES a protein that exhibits syntaxin binding; INVOLVED IN COPI coating of Golgi vesicle; Golgi organization; positive regulation of organelle organization; FOUND IN endoplasmic reticulum; endoplasmic reticulum-Golgi intermediate compartment; extracellular vesicular exosome; INTERACTS WITH acetylsalicylic acid; atrazine; copper(2+) sulfate 5 5 5 q35.3 171479350 171483233 - 177019213 177023108 + 177592212 177596107 + 737633;6480464 12477932 10744732;12237308;12754519;15308636;15489334;16595549;18287528;18457437;1918067;21139048;21890473;21906983;21963094;21987572;21988832;22190034;22939629;23000965;23246001;23251661;24250222;24583282;24816145;9472029;9527489 54732 Q9BVK6 ABBA01033450;AC139795;AF441399;AK298435;AK313292;AMYH02012842;BC001123;BG830564;BX640856;CH471195;NM_017510;X90872 AAH01123;AAL35268;BAG36099;BAG60656;CAA62380;EAW84966;EAW84967;EAW84968;NP_059980;Q9BVK6 Hs.279929 1740521;1780738;2115735;2150941;2182768 A002O39;D5S2312E;RH12840;STS-X90872;bac51873S GMP25;HSGP25L2G;p25 OTTHUMP00000161452;glycoprotein 25L2;gp25L2 protein;p24 family protein alpha-2;p24alpha2;transmembrane emp24 domain-containing protein 9 protein-coding ENSG00000184840 HGNC:24878 09975 VALIDATED 1601840 TMEM101 transmembrane protein 101 ENCODES a protein that exhibits signal transducer activity; INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; signal transduction; FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; hydrogen peroxide; valproic acid 17 17 17 q21.31 38796644 38800433 - 42088556 42100519 - 44011188 44023151 - 6480464 12477932;12761501;15489334;17207965;19322201;20532202;21988832 84336 B4DFS4;K7EM07;K7EM72;K7EPU9;K7ERS4;Q96IK0 AB097008;ABBA01028392;AC023855;AK130810;AK172826;AK294237;AK313855;AMYH02033467;AX247770;BC007438;CH471178;NM_032376;XM_005257737;XM_006722139 AAH07438;ADQ31859;BAC77361;BAG36583;BAG57535;CAC88601;EAW51641;EAW51642;NP_115752;Q96IK0;XP_005257794;XP_006722202 Hs.514211 2169527;2170276;2189421 G11824;MARC_5499-5500:991939653:1;RH18333 FLJ23987;MGC4251 putative NF-kappa-B-activating protein 130 protein-coding ENSG00000091947 HGNC:28653 14623 PROVISIONAL 1602279 TMEM105 transmembrane protein 105 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid 17 17 17 q25.3 75919806 75939206 - 79285070 79304474 - 81311270 81330674 - 6480464;8554872 14702039 284186 I3L4P7;Q8N8V8 ABBA01032138;AC027601;AK096111;AMYH02034125;BM998205;CH471099;NM_178520 BAC04703;EAW89647;NP_848615;Q8N8V8 Hs.364191 5037552 D8S2279 FLJ38792 protein-coding ENSG00000185332 HGNC:26794 08247 VALIDATED 1602475 TMEM100 transmembrane protein 100 INVOLVED IN BMP signaling pathway; cellular response to BMP stimulus; positive regulation of endothelial cell differentiation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; perikaryon; perinuclear region of cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; aflatoxin B1 17 17 17 q22 50258761 50271259 - 53796988 53809482 - 55719627 55732121 - 6480464;8554872 12477932;14702039;15489334;16344560;16712791;19058789;22021425;22223368;22505724;23485812 55273 Q9NV29 ABBA01041295;ABBA01041296;AC009837;AK001832;AK095175;AMYH02033659;BC010128;BQ027747;CB152959;CH471109;DA579336;DA896013;NM_001099640;NM_018286 AAH10128;BAA91931;BAG52999;EAW94537;EAW94538;EAW94539;NP_001093110;NP_060756;Q9NV29 Hs.173233 1340958;2130599 D17S1607;RH47271 FLJ10970;FLJ37856 protein-coding ENSG00000166292 HGNC:25607 07719 VALIDATED 1604962 TMEM102 transmembrane protein 102 INVOLVED IN positive regulation of cell adhesion; positive regulation of T cell migration; regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; FOUND IN cell surface; intracellular; protein complex; INTERACTS WITH calcitriol; testosterone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 p13.1 7364650 7366886 + 7338762 7340998 + 7435443 7437679 + 6480464 12477932;14702039;15324660;15489334;17828305;21906983;23620790 284114 Q8N9M5 ABBA01054866;AC113189;AK094197;AMYH02032901;BC046189;CH471108;NM_178518;XM_005256614 AAH46189;BAC04306;EAW90189;EAW90190;NP_848613;Q8N9M5;XP_005256671 Hs.655662 2132728 RH18511 CBAP;FLJ36878 OTTHUMP00000163818;OTTHUMP00000163819;common beta-chain associated protein protein-coding ENSG00000181284 HGNC:26722 08215 613936 PROVISIONAL 731656 TMED10 transmembrane emp24-like trafficking protein 10 (yeast) This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 55635795 55680950 - 75598171 75643349 - 75131468 75176646 - 2317276;6480464 18652896 10052452;10214941;10359607;10376215;10761932;11689559;11703931;11726511;11739402;12237308;12477932;12508121;14702039;15146197;15308636;15489334;16595549;16641999;17081065;18405662;18457437;18781797;19046380;19343178;19710022;20164256;20546612;21139048;21219331;21319273;21454541;21699748;21875946;21890473;21906983;21988832;22190034;22204304;22268729;22299712;22304920;22939629;23166591;23246001;23383273;23434013;24337577;24457600;24654937;24816145;7596406;8125298;8663407;9472029;9751720 10972 B4DL12;G3V2K7;P49755 ABBA01030704;ABBA01030705;ABBA01030706;ABBA01030707;AC007055;AJ004913;AK023615;AK056156;AK222972;AK296800;AK302920;AK308864;AK310371;AK312384;AL049780;AL691403;AL832012;AMYH02029530;AMYH02029531;AMYH02029532;AMYH02029533;AMYH02029534;BC001496;BC001825;BG675810;BX248754;BX504393;CH471061;CN420777;DB528262;L40391;L40397;NM_006827;U61734;X97442 AAB03625;AAC42003;AAD31941;AAH01496;AAH01825;ADZ15823;BAD96692;BAG35302;BAG59374;BAG64085;CAA06213;CAA66071;CAD66561;CAD89913;EAW81223;EAW81224;EAW81225;NP_006818;P49755 Hs.74137 1668899;1690746;2123170;2126416;2138936;2179585;5015861;5126356;7185938 A002E08;A002P02;D10S16;G35874;RH44072;RH45000;RH66374;SGC31604 P24(DELTA);S31I125;S31III125;TMP21;Tmp-21-I;p23 21 kDa transmembrane trafficking protein;21 kDa transmembrane-trafficking protein;OTTHUMP00000246815;p24 family protein delta-1;p24delta;p24delta1;transmembrane emp24 domain-containing protein 10;transmembrane protein Tmp21 APPROVED protein-coding ENSG00000170348 HGNC:16998 12013 605406 REVIEWED 1606542 TMEM104 transmembrane protein 104 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; paracetamol 17 17 17 q25.1 69365802 69429102 + 72772622 72835922 + 74776483 74839783 + 6480464;8554872 12477932;14702039;15489334;17081983;19615732;21890473;21906983;21963094;22505724;23000965;25015289 54868 B4DKL7;J3QQK2;Q8NE00 ABBA01028827;AC016888;AC068874;AK000262;AK074029;AK291159;AK296621;AL137521;AMYH02033980;BC011552;BC037278;CH471099;CN479614;DN999695;NM_017728;XM_005257481;XM_006721963 AAH37278;BAA91039;BAB84855;BAF83848;BAG59229;CAB70787;EAW89198;EAW89199;EAW89200;EAW89201;NP_060198;Q8NE00;XP_005257538;XP_006722026 Hs.370262 1725493;1776027 AF007378;RH119143 FLJ00021;FLJ20255 protein-coding ENSG00000109066 HGNC:25984 07888 VALIDATED 1603282 TMEM106A transmembrane protein 106A FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; lead(0) 17 17 17 q21.31 38020751 38028446 + 41363865 41372061 + 43211827 43220041 + 6480464 12477932;14702039;15489334;17207965;21988832;21989022 113277 B7Z779;K7ERE2;Q96A25 ABBA01006388;AC024051;AC087365;AC109326;AK056132;AK290387;AK299974;AK301571;AMYH02033453;AX083394;BC012139;BC146974;BC146976;BC147023;BC157892;BQ013276;CH471152;DC419931;NM_001291586;NM_001291587;NM_001291588;NM_145041;XM_005257003;XM_005257004;XM_006721658;XM_006721659 AAH12139;AAI46975;AAI46977;AAI47024;AAI57893;ADQ31658;BAB71101;BAF83076;BAH13184;BAH13515;CAC33297;EAW60954;EAW60955;NP_001278515;NP_001278516;NP_001278517;NP_659478;Q96A25;XP_005257060;XP_005257061;XP_006721721;XP_006721722 Hs.536474 1672066;1734528;1744257;1771649;2151578;5022200;5022578;5022651;5093146 A009H26;D11S2921;D17S1461E;D17S1970;D1S1423;G32547;GDB:439146;L18426;WI-21206 FLJ50420;FLJ50717;FLJ77644;MGC182077;MGC182126;MGC20235 protein-coding ENSG00000184988 HGNC:28288 11315 VALIDATED 1318843 TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2 ASSOCIATED WITH Breast Neoplasms; Prostatic Neoplasms; Urinary Bladder Neoplasms; FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; actinomycin D; all-trans-retinoic acid 2 2 2 q32.3 186409789 186655054 - 192770615 193059645 - 191949046 192194919 - 2290485;2290486;2290490;2290489;6480464;8554872 15299075;16234815;16458425;16500022 10600548;10903839;10987305;11120884;11668495;12384516;12460892;12477932;12729735;12975309;14702039;15068392;15340161;15489334;15815621;15824739;16303743;16439095;16619216;17352030;17903298;17942404;18059030;18070176;18799374;19040536;19167051;19240061;19288010;20379614;20975101;21393249;21559523;21658281;22238370;22532293;22814847;23405127;23824605;8125298 23671 Q9UIK5 AB004064;AB017269;ABBA01062402;ABBA01062403;ABBA01062404;ABBA01062405;AC092644;AC098617;AF179274;AF242221;AF242222;AF264150;AK054646;AK074507;AK074632;AK222691;AK315376;AL157430;AMYH02005451;AMYH02005452;AMYH02005453;AMYH02005454;AMYH02005455;AY358907;BC008973;CH471058;CQ840932;CR457390;DQ133599;FB353542;NM_016192;XM_005246437 AAD55776;AAF91397;AAG49451;AAG49452;AAH08973;AAQ89266;AAX88893;AAY14874;AAZ43216;BAA87897;BAA90820;BAC11030;BAD96411;BAG37769;BAG51979;CAB75654;CAG33671;CAH05705;CAR82354;EAX10831;EAX10832;NP_057276;Q9UIK5;XP_005246494 Hs.144513 1335911;1701134;1764849;1792334;1794558;2155997;7185503 A006V48;D2S280;PMC14579P1;PMC31832P1;RH104195;SHGC-148409 CT120.2;HPP1;TENB2;TPEF;TR;TR-2 OTTHUMP00000163598;OTTHUMP00000163599;cancer/testis antigen family 120, member 2;hyperplastic polyposis protein 1;tomoregulin;tomoregulin-2;transmembrane protein TENB2 protein-coding ENSG00000144339 HGNC:11867 05760 605734 PROVISIONAL 1601972 TMEM106C transmembrane protein 106C FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2-methylcholine 12 12 12 q13.1 47154980 47160311 + 48357330 48362661 + 47963547 47968878 + 6480464 12477932;15146197;15342556;15489334;16344560;17207965;21139048;24250222 79022 C9JUY7;F8VVN7;F8VWX5;F8VZW0;F8W001;F8W098;F8W120;H0YHU2;H0YIA4;Q9BVX2 ABBA01031473;AC004801;AK299154;AK310035;AK313698;AMYH02026417;BC000854;BC107792;BP228371;BQ227924;CH471111;CN256547;CX763149;DA567999;DA571733;DQ020163;NM_001143841;NM_001143842;NM_001143843;NM_024056 AAH00854;AAI07793;AAY84826;ADQ32675;BAG36445;BAH12960;EAW57965;NP_001137313;NP_001137314;NP_001137315;NP_076961;Q9BVX2 Hs.596726 1669786;1688190;2135992;2135994;5492098 A006B31;D12S2122;G20681;MARC_39677-39678:1078242929:5;RH91118 MGC111210;MGC5576 OTTHUMP00000242399;OTTHUMP00000242401;OTTHUMP00000242403;OTTHUMP00000242404;OTTHUMP00000242405;OTTHUMP00000242406;endoplasmic reticulum membrane protein overexpressed in cancer protein-coding ENSG00000134291 HGNC:28775 14690 VALIDATED 1603394 TMEM106B transmembrane protein 106B INVOLVED IN dendrite morphogenesis; lysosome localization; FOUND IN extracellular vesicular exosome; lysosomal membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; all-trans-retinoic acid 7 7 7 p21.3 12228868 12254926 + 12250848 12276890 + 12211203 12237264 + 6480464 12477932;12690205;12853948;14702039;15489334;16344560;17081983;17207965;20154673;20383883;21104415;21139048;21220649;21354975;21890473;21906983;21963094;21987572;22505724;22511793;22855871;22889924;22895706;22952603;23000965;23006423;23136129;23648065;23742080;24250222;24343233;24357581;24872421;8125298;9847074 54664 C9J998;C9JZ87;F2Z3N7;Q9NUM4 ABBA01056568;AC007321;AK001834;AK002135;AK090805;AK223263;AK311651;AMYH02015244;AX191597;BC028108;BC033901;BC039741;CH236948;CH471073;DA452299;NM_001134232;NM_018374;XM_005249789;XM_006715749 AAH28108;AAH33901;AAH39741;AAQ96840;ADQ31827;BAA92099;BAD96983;CAC51183;EAL24296;EAW93638;EAW93639;EAW93640;EAW93641;EAW93642;NP_001127704;NP_060844;Q9NUM4;XP_005249846;XP_006715812 Hs.396358 1643916;1682357;1683900;1695338;1752191;2123041;2140809;2172498;2180265 GDB:1318094;RH45871;RH48003;RH77854;RH93650;SHGC-106068;SHGC-31421;SHGC-64764;STS-N51331 FLJ11273;MGC33727 OTTHUMP00000155197;OTTHUMP00000201450 protein-coding HGNC:22407 07745 613413 VALIDATED 1601968 TMEM109 transmembrane protein 109 INVOLVED IN cellular response to gamma radiation; negative regulation of cell death; FOUND IN extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; copper atom; copper(0) 11 11 11 q12.2 58042259 58051802 + 60681351 60690915 + 60913899 60923443 + 6480464 12477932;15489334;18029348;19199708;20060811;20360068;21139048;21890473;21906983;21963094;22505724;23542032;24250222;24816145;8619474;9110174 79073 Q9BVC6 ABBA01021517;AF131803;AK303961;AK313913;AMYH02024876;AP003721;AX775849;AX775851;BC001309;BI463800;CH471076;NM_024092 AAH01309;BAG36636;BAG64885;CAE11624;CAE11625;EAW73906;NP_076997;Q9BVC6 Hs.13662 1644116;1666415;1716147;1775926;1847996;2117350 D11S2248E;D11S2290E;G30169;RH11560;RH121096;WI-12296 MGC5508;mg23 OTTHUMP00000236897;OTTHUMP00000236899;mitsugumin-23 protein-coding ENSG00000110108 HGNC:28771 14687 VALIDATED 1604309 TMEM108 transmembrane protein 108 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; tunicamycin 3 3 3 q21 131182649 131543167 + 132757171 133116619 + 133038288 133397775 + 6480464;8554872 11214970;11230166;12477932;12975309;14702039;15489334;18519826;20379614;21102462;21529783;21900206;22036096;8889548 66000 B3KT64;D6R911;D6R9I6;D6RFH6;D6RGJ9;D6RIE1;E9PB58;Q6UXF1 AB051477;ABBA01059172;ABBA01059173;ABBA01059174;ABBA01059175;AC018472;AC055753;AC079942;AC092984;AI791245;AK095050;AL136578;AMYH02007699;AMYH02007700;AY358381;BC000568;BI489935;BI562052;BM667108;CH471052;DB522014;HY044341;NM_001136469;NM_001282865;NM_023943;XM_005247725;XM_005247726;XM_005247727;XM_005247728 AAH00568;AAQ88747;BAB21781;BAG52976;CAB66513;EAW79182;EAW79183;EAW79184;NP_001129941;NP_001269794;NP_076432;Q6UXF1;XP_005247782;XP_005247783;XP_005247784;XP_005247785 Hs.191616 1335773;1340323;1646007;1652849;1676007;1707892;1712555;1727193;1730916;1735348;1740243;1758841;1765791;1767027;1791420;2142212;2168982;2176392;2186396;5015961;5037552;7185064;7186707 D15S1477;D3S1273;D3S1290;D3S1349;D3S1622;D3S2966E;D3S3074;D8S2279;G30981;G62850;PMC109660P1;R74726;RH68736;RH80483;SHGC-149219;SHGC-151047;SHGC-152674;SHGC-77359;SHGC-82194;WI-15706;WI-21756 CT124;MGC3040 OTTHUMP00000216227;OTTHUMP00000216228;OTTHUMP00000216229;cancer/testis antigen 124 protein-coding ENSG00000144868 HGNC:28451 11329 VALIDATED 1320357 TMEM11 transmembrane protein 11 INVOLVED IN mitochondrion organization; FOUND IN integral component of mitochondrial inner membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine; atrazine 17 17 17 p11.2 21424589 21441205 + 21101263 21117974 - 21197950 21214595 - 6480464 12477932;15489334;16169070;16189514;20877624;2110658;21139048;21274005;21890473;21906983;21963094;22190034;23142642;23455924 8834 P17152 ABBA01050460;AC087294;AC087393;AK311965;AMYH02033199;BC002819;BC005268;BC020815;BC035874;BT006768;CH471210;DC364753;NM_003876;NR_024547;X51804 AAH02819;AAH05268;AAH20815;AAP35414;BAG34905;CAA36102;EAX02598;EAX02599;NP_003867;P17152 Hs.592945 1686728;1686971;2187558 RH64843;RH80891;STS-X51804 C17orf35;PM1;PMI putative receptor protein;transmembrane protein 11, mitochondrial protein-coding HGNC:16823 12680 VALIDATED 8552051 TMEM108-AS1 TMEM108 antisense RNA 1 3 3 132965292 132976032 - 133246448 133257188 - 12477932 101927455 ABBA01059172;AC018472;AC055753;AMYH02007700;BC037929;HG496068;HG496069;NR_110812;XR_241570;XR_249539;XR_251451 Hs.570550 ncrna ENSG00000251011 HGNC:50307 VALIDATED 1602041 TMEM110 transmembrane protein 110 FOUND IN integral component of membrane (inferred); INTERACTS WITH cyclosporin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cadmium dichloride (ortholog) 3 3 3 p21.1 52852699 52910364 - 52870772 52931597 - 52836756 52897581 - 6480464 12477932;14702039;15489334;16344560;21926972;22610502;23974872;24816145 375346 F8WDI5;H7C503;H7C551;Q86TL2 ABBA01024497;ABBA01024498;AC099667;AK094932;AK124386;AMYH02006815;AY726591;BC022209;BC047015;BM802543;BX360795;BX648562;CH471055;DA619807;DA730528;DB362400;NM_198563 AAH47015;EAW65266;NP_940965;Q86TL2 Hs.744189 1686562;1752399;2120696;2123929;2148851;2159795 RH80385;SHGC-106308;SHGC-57800;STS-H99616;STS-T49461;WI-12546 DKFZp667E1121;DKFZp779M0254;FLJ37613;FLJ42395;MGC52022 OTTHUMP00000213875;OTTHUMP00000218922 protein-coding ENSG00000213533 HGNC:30526 14675 VALIDATED 5013865 TMEM110-MUSTN1 TMEM110-MUSTN1 readthrough This locus represents naturally occurring read-through transcription between the neighboring TMEM110 (transmembrane protein 110) and MUSTN1 (musculoskeletal, embryonic nuclear protein 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 3 3 52867131 52931597 - 52833115 52897581 - 6480464 12477932;20967262;22610502 100526772 A8MSY1;H0Y8V1 ABBA01024497;ABBA01024498;AC099667;AL833659;AMYH02006815;BC108689;NM_001198974 NP_001185903 Hs.744189 1686562;1784854;2148851;2158820;2159795 D3S3371;RH80385;SHGC-156028;STS-H99616;WI-12546 DKFZp667E1121 OTTHUMP00000218922;TMEM110-MUSTN1 fusion protein;TMEM110-MUSTN1 read-through transcript APPROVED protein-coding ENSG00000248592 HGNC:38834 VALIDATED 2292465 TMEM114 transmembrane protein 114 This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014] 16 16 16 p13.2 3272 23588 - 8619502 8622226 - 8569500 8589838 - 6480464 11181995;12477932;15489334;17492639;18637741;21689651;22669729;23674605;24357539 283953 B3SHH9;H3BM71 ABBA01026864;AC074052;AC137777;AC140531;AI350262;AI733247;AI887966;AMYH02031401;AW135815;BC150511;BE670838;BG197899;BG201995;BM670302;BM712244;CH891104;EF424218;FO181539;HG507703;NG_041767;NM_001146336;NM_001290095;NM_001290097;NM_001290098;NR_110736 ABN55916;B3SHH9;EAW50652;NP_001139808;NP_001277024;NP_001277026;NP_001277027 Hs.150849;Hs.459847;Hs.517683 protein-coding ENSG00000232258 HGNC:33227 611579 REVIEWED 1605401 TMEM115 transmembrane protein 115 FOUND IN Golgi apparatus; nucleus; INTERACTS WITH atrazine; cobalt dichloride; disodium selenite 3 3 3 p21.3 50365011 50369770 - 50392180 50396939 - 50354749 50359508 - 6480464 11085536;12477932;15489334;16641997;17973242;21890473;24250222;24816145;9856955 11070 Q12893 ABBA01024549;AC002481;AK314166;AMYH02006769;BC011948;BC017367;BF305563;CH471055;CR457020;NM_007024;U09584;Z84492 AAA92281;AAB67308;AAH11948;AAH17367;ABM83032;ABM86226;BAG36850;CAG33301;EAW65115;EAW65116;EAW65117;NP_008955;Q12893 Hs.91566 1670176;1793468;2108869 PL6_9215;PMC22669P15;WI-17327 PL6;PP6 OTTHUMP00000041145;placental protein 6 protein-coding ENSG00000126062 HGNC:30055 06144 607069 VALIDATED 1603948 TMEM107 transmembrane protein 107 INVOLVED IN cilium assembly (ortholog); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzene; calcitriol 17 17 17 p13.1 8104549 8107967 - 8076296 8079723 - 8172978 8176396 - 6480464 12477932;12975309;14702039;15489334;17207965;19727342;23142642 84314 B2RDT5;B3KNL7;E9PIH0;Q6UX40 ABBA01054901;AC129492;AF311338;AK027813;AK315666;AMYH02032922;AY358525;BC006292;BC070231;BC119730;BC119731;BC127649;BC127650;BM920977;BU852346;CH471108;NM_032354;NM_183065 AAH70231;AAI27650;AAK38512;AAQ88889;ADQ32046;BAG38032;BAG51379;EAW90083;EAW90084;EAW90085;NP_115730;NP_898888;Q6UX40 Hs.513933 2115345;5015619 D11S3114;D17S2157 GRVS638;MGC10744;PRO1268 OTTHUMP00000232429;OTTHUMP00000232430;OTTHUMP00000232431 protein-coding HGNC:28128 14400 VALIDATED 1604277 TMEM117 transmembrane protein 117 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH (-)-epigallocatechin 3-gallate; 3,4-dichloroaniline; aflatoxin B1 12 12 12 q12 43033310 43586834 + 44229853 44783543 + 43835861 44389762 + 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16344560;16381901;19913121;20379614;20628086 84216 F8VS00;F8W1J2;H0YI63;Q05C15;Q9H0C3 ABBA01031426;ABBA01031427;AC024934;AC025030;AC025253;AC073653;AC076972;AC093012;AI050061;AK057287;AK097511;AL136855;AMYH02026382;AMYH02026383;AMYH02026384;AMYH02026385;AMYH02026386;AMYH02026387;AMYH02026388;AMYH02026389;AMYH02026390;BC016819;BC030284;BC042192;BC060798;CF994089;CH471111;DA007410;DB477248;KF570264;NM_001286211;NM_001286212;NM_001286213;NM_032256 AAH30284;AAH60798;BAB71411;BAG53479;CAB66789;CAL38624;EAW57871;EAW57872;NP_001273140;NP_001273141;NP_001273142;NP_115632;Q9H0C3 Hs.444668 1339500;1341346;1690542;1695396;1706280;1712995;1714485;1715009;1725303;1739535;1769607;2110113;2113002;2116404 CH12SSR1;D12S1473;D12S1663;D12S1687;D12S2160;RH118969;RH119754;RH120588;RH120841;RH92937;SHGC-35739;SHGC-68506;SHGC-80694;STS-N21193 DKFZp434K2435 OTTHUMP00000241055;OTTHUMP00000241056 protein-coding ENSG00000139173 HGNC:25308 13193 VALIDATED 1602276 TMEM119 transmembrane protein 119 INVOLVED IN osteoblast differentiation (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 12 12 12 q23.3 108653016 108661288 - 108983622 108991894 - 108589846 108598118 - 6480464 12477932;12975309;14702039;15489334;16303743 338773 F8VS22;F8VZL0;F8W0W9;Q4V9L6 ABBA01053131;AC008119;AK075501;AK097290;AK295288;AK301202;AL521683;AMYH02027155;AX380599;AX380745;AY358389;BC096825;BX333871;CH471054;CS051333;DC349145;ES311302;NM_181724;XM_006719368;XM_006719369 AAH96825;AAQ88755;BAC11656;BAG58272;BAG62779;CAD28298;CAD28371;CAI72161;EAW97823;NP_859075;Q4V9L6;XP_006719431;XP_006719432 Hs.449718 1689306 RH92385 OBIF OTTHUMP00000241010;osteoblast induction factor protein-coding ENSG00000183160 HGNC:27884 11260 VALIDATED 1605325 TMEM120A transmembrane protein 120A FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzene; benzo[a]pyrene 7 7 7 q11.23 70484699 70492531 - 75616155 75623992 - 75986837 75994674 - 6480464 10737800;12477932;16169070;21103663;21382349;22990118 83862 Q9BXJ8 ABBA01005897;ABBA01005898;AC006330;AF327923;AMYH02016075;AMYH02016076;BC029487;BC040694;BC051850;BI049925;CH471220;CX869634;DB460719;KF495978;NM_031925 AAH29487;AAH51850;AAK16442;ABM81928;ABM85106;EAW71781;EAW71782;EAW71783;EAW71784;EAW71785;EAW71786;EAW71787;EAW71788;NP_114131;Q9BXJ8 Hs.488835 1651099;1655895;1725639;1740191;2124038;2189471 D9S1774;G62098;MARC_6945-6946:992007577:2;RH11643;RH45086;WI-15388 NET29;TMPIT transmembrane protein induced by tumor necrosis factor alpha protein-coding ENSG00000189077 HGNC:21697 15543 VALIDATED 1606775 TMEM121 transmembrane protein 121 FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; dimethyl sulfoxide 14 14 14 q32.33 86047836 86049422 + 105992953 105996554 + 105526616 105530217 + 6480464 12204283;12477932;15489334;20714865 80757 Q9BTD3 ABBA01008883;AC243900;AL928654;BC004221;NM_025268;XM_005268101;XM_006720261 AAH04221;NP_079544;Q9BTD3;XP_005268158;XP_006720324 Hs.157527 MGC4659;hole OTTHUMP00000028468 protein-coding ENSG00000184986 HGNC:20511 14652 PROVISIONAL 1626589 TMEM120B transmembrane protein 120B FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; 17beta-estradiol 12 12 12 q24.31 121789674 121856224 + 122150658 122219974 + 121712752 121782068 + 6480464 12477932;19240061;20379614;24026423;24250222 144404 A0PK00;F5H465;H0YG77 ABBA01020182;ABBA01020183;AC084018;AK126568;AMYH02027399;AMYH02027400;BC035884;BC069021;BC127768;BC127769;BX648084;NM_001080825;XM_005253842;XM_005253843;XM_006719244 A0PK00;AAI27769;AAI27770;BAG54345;NP_001074294;XP_005253899;XP_005253900;XP_006719307 Hs.644504 1661033;1757731;1782656;2124671;5015861;5015961;5020948;5022200;5022578;5022651;5037552;5117897;7185938 A004O17;D10S16;D11S2921;D15S1477;D1S1423;D8S2279;G35510;GDB:631813;L18426;SHGC-146397;SHGC-149612;SHGC-33451 OTTHUMP00000240043;OTTHUMP00000240044;OTTHUMP00000240045 protein-coding ENSG00000188735 HGNC:32008 VALIDATED 1604757 TMEM125 transmembrane protein 125 FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; hydrogen peroxide; menadione 1 1 1 p34.2 42017771 42021779 + 43735665 43739673 + 43269994 43274002 + 6480464 12477932;15489334;8889548 128218 E5RHB0;Q96AQ2 ABBA01050961;AC093420;AMYH02000897;BC016858;BC072393;BI768096;BI821566;BM677938;CH471059;NM_144626;XM_005270466;XM_005270467 AAH16858;EAX07110;EAX07111;NP_653227;Q96AQ2;XP_005270523;XP_005270524 Hs.104476 MGC17299 OTTHUMP00000224937;OTTHUMP00000224938 protein-coding ENSG00000179178 HGNC:28275 14457 VALIDATED 1605596 TMEM123 transmembrane protein 123 This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. [provided by RefSeq, Jul 2008] 11 11 11 q22.1 99428614 99485334 - 102267056 102323775 - 102396325 102453044 - 6480464 11481458;11893509;12477932;12752121;12975309;15340161;15489334;16189514;16303743;16344560;19322201;23535732;24318988;8125298;9600958 114908 E9PJW0;E9PKT4;E9PSB1;Q8N131 ABBA01039933;ABBA01039934;AJ293406;AK026572;AK075420;AK225790;AL050161;AL110202;AL137643;AMYH02025484;AMYH02025485;AP000942;AP001830;AY008283;AY157580;AY358696;BC032296;CH471065;CS051231;DB146474;NM_052932 AAG21694;AAH32296;AAO13164;AAQ89059;ABM82580;ABM85768;BAC11610;CAI72111;EAW67019;EAW67020;EAW67021;NP_443164;Q8N131 Hs.503709 1647642;1666717;1672228;1675269;1739595;2119232;2133383;2184739;5106765 D11S4047E;D11S4712;RH45899;RH66146;RH67911;RH78251;STS-N39521;WI-19267;WI-21659 KCT-3;KCT3 OTTHUMP00000235711;OTTHUMP00000235712;PORMIN;keratinocytes associated transmembrane protein 3;keratinocytes-associated transmembrane protein 3;porimin;pro oncosis receptor inducing membrane injury;pro-oncosis receptor inducing membrane injury;serine/threonine-rich receptor APPROVED protein-coding ENSG00000152558 HGNC:30138 606356 REVIEWED 1604272 TMEM126A transmembrane protein 126A The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 11 11 11 q14.1 82668277 82676912 + 85358963 85367597 + 85647919 85656553 + 6480464;7240710;8554872;8699517 11076863;11230166;11256614;12477932;15489334;15489336;16381901;19327736;19570815;20405026;20877624;21890473;22797925;22815638;22939629;23500070 84233 E9PI90;E9PIH8;Q9H061 ABBA01017336;AK312081;AL136941;AMYH02025218;AP000642;BC007875;BQ943238;CD366181;CH471076;DB454483;NG_017157;NM_001244735;NM_032273 AAH07875;BAG35017;CAB66875;CAL37734;EAW75102;NP_001231664;NP_115649;Q9H061 Hs.533725 1658780;2130530 RH45683;RH48531 DKFZp586C1924;OPA7 OTTHUMP00000234600;OTTHUMP00000234602;OTTHUMP00000234603 APPROVED protein-coding ENSG00000171202 HGNC:25382 13216 612988;612989 REVIEWED 1603632 TMEM126B transmembrane protein 126B FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH 2-methylcholine; atrazine; quercetin 11 11 11 q14.1 82648936 82656897 + 85339617 85347583 + 85628573 85636539 + 6480464 10931946;12477932;15342556;15489334;16341674;17903296;19570815;21832049;21890473;22939629;22982022 55863 B4DP48;E9PJQ6;E9PKZ7;E9PKZ9;H0YD74;H0YEG5;Q8IUX1 ABBA01017336;AC023118;AF220193;AF246240;AK291150;AK298189;AMYH02025218;AP000446;AP000639;AP000642;AP000773;AP000852;AP000857;AP001791;AP001825;AP001984;AP002370;AP002751;AP002797;AP002803;AP002878;AP003026;AP003035;AP003093;AP003095;AP003305;AV728059;BC012065;BC017574;BC038933;BC107900;BE781669;BF244908;BG170232;BG623309;BG776073;BM746060;BP264186;CH471076;CS072471;DB530931;KC877446;NM_001193537;NM_001193538;NM_001256546;NM_001256547;NM_018480 AAF67658;AAG44487;AAH12065;AAH17574;AAH38933;AAI07901;ABM83211;ABM86411;BAF83839;BAG60460;CAI93609;EAW75096;EAW75097;EAW75098;EAW75099;EAW75100;EAW75101;NP_001180466;NP_001180467;NP_001243475;NP_001243476;NP_060950;Q8IUX1 Hs.525063 1666602;1686935;1707260;5111899 A008Z32;G42651;RH94372;SHGC-79231 HT007;MGC111203 OTTHUMP00000234589;OTTHUMP00000234594;OTTHUMP00000234598;complex I assembly factor TMEM126B, mitochondrial protein-coding ENSG00000171204 HGNC:30883 13715 615533 VALIDATED 1601991 TMEM127 transmembrane protein 127 This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010] 2 2 2 q11.2 91357500 91372939 - 96915946 96931751 - 96250208 96266013 - 6480464;7240710;8554872 10493829;12477932;14702039;15489334;15815621;16344560;16751776;18854154;19322201;20154675;20301715;20923864;21139048;21156949;21447639;21613359;21752829;22541004;23000965;23551308;24250222 55654 C9J4H2;O75204 ABBA01036593;AC004020;AC012307;AC021188;AK000514;AK025910;AK293276;AL117494;AL117581;AMYH02004329;BC028575;BC039892;CH471207;DA212468;NG_027695;NM_001193304;NM_017849 AAC23494;AAH28575;AAH39892;AAY24224;BAA91220;BAB15279;BAG56805;EAW71376;EAW71377;EAW71378;EAW71379;NP_001180233;NP_060319;O75204 Hs.164303;Hs.735706 1855281;2129473;2129475;2158786;2166584;2189377;5037552 D2S1663E;D2S2931;D8S2279;MARC_3297-3298:991936980:1;RH11591;RH68603;SHGC-30679 FLJ20507;FLJ22257 OTTHUMP00000161011;OTTHUMP00000207421 APPROVED protein-coding HGNC:26038 07917 171300;613403 REVIEWED 1602670 TMEM128 transmembrane protein 128 FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; pirinixic acid 4 4 4 p16.3 4134889 4147554 - 4237269 4249965 - 4235542 4248237 - 6480464 12477932;14702039;15489334;23142642;24351856;24816145 85013 B7Z3K1;D3DVS1;Q5BJH2 ABBA01008244;AC011744;AK001453;AK295248;AK296007;AMYH02008640;AX083456;BC007729;BC091482;BM263799;CH471131;CR933611;DA019506;NM_001297551;NM_001297552;NM_032927;XM_005248033;XM_005248034;XM_006713928 AAH07729;AAH91482;BAG58239;BAH12237;CAC33319;CAI45928;EAW82440;EAW82441;EAW82442;EAW82443;EAW82444;NP_001284480;NP_001284481;NP_116316;Q5BJH2;XP_005248090;XP_005248091;XP_006713991 Hs.12845 2177280 G30035 MGC110944;MGC13159 OTTHUMP00000155125;OTTHUMP00000155126 protein-coding ENSG00000132406 HGNC:28201 17483 VALIDATED 1606992 TMEM129 transmembrane protein 129, E3 ubiquitin protein ligase ENCODES a protein that exhibits ligase activity (inferred); metal ion binding (inferred); INVOLVED IN protein ubiquitination (inferred); response to unfolded protein (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; phenobarbital 4 4 4 p16.3 1628728 1634133 - 1717679 1723084 - 1715952 1721357 - 6480464 12477932;20348956;20379614;20972438;21906983;24163127;24807418;25030448 92305 A0AVI4;H7C4G7;H7C4I8 ABBA01029532;AC016773;AK098466;AK303880;AMYH02008586;BC009331;BC018921;BC126370;CH471131;NM_001127266;NM_138385;XM_005248038;XM_005248039;XM_006713933 A0AVI4;AAI26371;ADR83363;BAG64816;EAW82569;EAW82570;EAW82571;EAW82572;EAW82573;NP_001120738;NP_612394;XP_005248095;XP_005248096;XP_006713996 Hs.518562 1671991;2163140 D4S2561E;G29340 D4S2561E;FLJ25600 E3 ubiquitin-protein ligase TM129;OTTHUMP00000149961;OTTHUMP00000212816;transmembrane protein 129 APPROVED protein-coding ENSG00000168936 HGNC:25137 14290 615975 VALIDATED 1605559 TMEM130 transmembrane protein 130 ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH atrazine; trichostatin A; valproic acid 7 7 7 q22.1 93173010 93196552 - 98444111 98467673 - 98846488 98870050 - 6480464;8554872 11076863;11230166;11256614;12477932;12690205;12975309;15489334;15489336;16344560;16381901;8125298 222865 B7Z2F1;C9JQV5;G3V0E7;Q8N3G9 AB072903;ABBA01045698;ABBA01045699;ABBA01045700;AC004991;AC095044;AK124634;AK225783;AK294658;AK295543;AK312364;AL832523;AL834348;AL834349;AMYH02016346;AMYH02016347;AY358583;BC030793;BC037895;CH236956;CH471091;DA144530;DA154119;NM_001134450;NM_001134451;NM_152913 AAH30793;AAH37895;AAQ88946;BAG35282;BAG54060;BAH11837;BAH12100;CAD38628;CAD39013;CAD39014;CAL37825;CAL38122;CAL38713;CAL38749;EAL23888;EAW76701;EAW76702;EAW76703;EAW76704;NP_001127922;NP_001127923;NP_690877;Q8N3G9 Hs.270753 1649212;1671734;1851721;5014051;5022651 D11S2921;D7S2631;D8S2278;GDB:314059;SHGC-32537 DKFZp761L1417;FLJ42643 OTTHUMP00000205634;OTTHUMP00000205635;OTTHUMP00000205636;OTTHUMP00000227765 protein-coding ENSG00000166448 HGNC:25429 13226 VALIDATED 1606821 TMEM131 transmembrane protein 131 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; ethyl methanesulfonate 2 2 2 q11.2 92576761 92816261 - 98372799 98612389 - 97756336 97995926 - 6480464;8554872 10996388;12477932;16344560;16964243;17081983;20379614;21906983;21963094;22268729;24250222;9039502 23505 B4DMG2;C9J6W0;H7BZ05;H7BZV0;Q92545 ABBA01073972;ABBA01073973;ABBA01073974;ABBA01073975;AC016699;AC079337;AC092591;AK025852;AK098792;AK297450;AMYH02004379;AMYH02004380;AMYH02004381;AU132630;BC018018;BC036841;BE327511;BX647728;D87446;KF456686;KF456687;NM_015348;XM_005263909;XM_005263910;XM_005263911;XM_005263912;XR_427080 AAH36841;AAX82007;BAA13387;BAG59874;NP_056163;Q92545;XP_005263966;XP_005263967;XP_005263968;XP_005263969 Hs.469376 1661403;1668398;1679021;1707752;1712326;1724447;1748769;2118463;2119984;2173382 D1S3018;D2S1674E;G16369;G54072;RH122386;RH98300;SHGC-110396;SHGC-82094;STS-H71487;WI-13832 CC28;KIAA0257;PRO1048;RW1;YR-23 2610524E03Rik;OTTHUMP00000203014;OTTHUMP00000203015 protein-coding ENSG00000075568 HGNC:30366 615659 VALIDATED 1603287 TMEM116 transmembrane protein 116 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 3-methylcholanthrene; aflatoxin B1 12 12 12 q24.13 111994553 112076493 - 112369086 112451023 - 111931282 112013219 - 6480464 12477932;14702039;15489334;17207965;24250222 89894 F8VNZ8;F8VP39;F8VQZ8;F8VRN7;F8VWU6;F8W1L7;G3V1Z3;Q8NCL8;Q9BWF8;S4R388 ABBA01019917;AC004024;AC073575;AK021528;AK074648;AK092832;AL519857;AL833501;AMYH02027213;AMYH02027214;BC000282;BC022360;BC033158;BC048796;BC070135;BF435254;BI828772;CH471054;CQ783530;DB030882;NM_001193453;NM_001193531;NM_001294314;NM_138341;NR_122119;XM_005253985;XM_005253986;XM_006719678;XM_006719679;XM_006719680 AAH00282;AAH22360;AAH48796;AAH70135;ADQ32041;BAC11112;CAF86706;EAW97982;EAW97983;EAW97984;EAW97985;EAW97986;EAW97987;EAW97988;EAW97989;NP_001180382;NP_001180460;NP_001281243;NP_612350;Q8NCL8;XP_005254042;XP_005254043;XP_006719741;XP_006719742;XP_006719743 Hs.506815;Hs.735999 2145870;2145872;2162181;5015961;5016478;5022463;5037552;5109281 A002B25;A008B05;D15S1477;D1S1425;D3S1673;D8S2279;G19891;GDB:434012 FLJ90167 OTTHUMP00000241672;OTTHUMP00000241674;OTTHUMP00000241676 protein-coding ENSG00000198270 HGNC:25084 11275 VALIDATED 1606273 TMEM132A transmembrane protein 132A This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 11 11 11 q12.2 58052800 58065518 + 60691913 60704631 + 60924441 60937159 + 6480464;8554872 10997877;11524435;12421765;12477932;12514190;14702039;16806201;18854154;21139048;21906983;23314748 54972 F5H765;H0YFB3;H0YFQ1;H0YFQ2;Q24JP5 AB046803;ABBA01021517;AK000546;AK023577;AL359557;AL834133;AMYH02024876;AP003721;BC028106;BC032059;BC114569;CH471076;NM_017870;NM_178031 AAH28106;AAH32059;AAI14570;BAA91245;BAB13409;BAB14613;CAH10668;EAW73908;EAW73909;EAW73910;EAW73911;EAW73912;EAW73913;EAW73914;NP_060340;NP_821174;Q24JP5 Hs.118552 1644116;1666503;1754431;1775926;1853099;1853101;2107217 D11S2290E;HSPA5BP1__7508;RH47594;SHGC-132491;SHGC-33247;SHGC-36506;WI-12296 DKFZp547E212;FLJ20539;GBP;HSPA5BP1;MGC138669 GRP78-binding protein;HSPA5-binding protein 1;OTTHUMP00000236901;OTTHUMP00000236902;glucose-regulated protein, 78kDa;heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1;heat shock 70kDa protein 5 binding protein 1 APPROVED protein-coding ENSG00000006118 HGNC:31092 11034 REVIEWED 1603364 TMEM132E transmembrane protein 132E FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q12 29817991 29876565 + 32907768 32966337 + 34580749 34639318 + 6480464 12477932;14569139;23903073;24080446;24529757 124842 Q6IEE7 ABBA01011216;AC005691;AMYH02033339;BC018318;BC020591;BN000149;NM_207313;XM_006721692 AAH18318;AAH20591;CAD80169;NP_997196;Q6IEE7;XP_006721755 Hs.310482 1335326;1340503;1340731;1729470;1751005 D17S1158;D17S1842;D17S1872;D17S514;SHGC-104930 OTTHUMP00000163847 protein-coding ENSG00000181291 HGNC:26991 14030 PROVISIONAL 1606181 TMEM132B transmembrane protein 132B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; diuron; silicon dioxide 12 12 12 q24.31 125418816 125750149 + 125811162 126146915 + 125218569 125662377 + 6480464;8554872 11347906;11572484;12477932;14702039;20379614;24322204;24529757 114795 Q14DG7 AB058689;AB067493;ABBA01060332;ABBA01060333;ABBA01060334;ABBA01060335;ABBA01060336;AC004806;AC005146;AC026370;AC073618;AC093028;AK055283;AK090767;AK091512;AK093097;AK094786;AMYH02027485;AMYH02027486;AMYH02027487;AMYH02027488;BC113366;BC113368;BC131621;CH471054;CR735824;HY012039;NM_001286219;NM_052907;XM_006719219;XM_006719220;XM_006719221 AAI13367;AAI13369;AAI31622;BAB47415;BAB67799;BAC04053;EAW98476;EAW98477;EAW98478;NP_001273148;NP_443139;Q14DG7;XP_006719282;XP_006719283;XP_006719284 Hs.524838;Hs.616436 1331596;1335646;1337776;1339412;1722737;1752645;1757171;2122185;2151976;2172632;2181817;5037552;7186752 A007A34;B332ZC1;D12S1614;D12S304;D12S340;D12S342;D8S2279;G17647;G60306;SGC31838;SHGC-106466;SHGC-144599 KIAA1786;KIAA1906 OTTHUMP00000238921 protein-coding ENSG00000139364 HGNC:29397 17230 VALIDATED 1602316 TMEM133 transmembrane protein 133 There is evidence that this intronless gene is transcribed but the protein is predicted. The gene function is unknown. [provided by RefSeq, Jul 2008] 11 11 11 q22.1 98032150 98034010 + 100862811 100864666 + 100992080 100993935 + 6480464 12477932;15489334;21909110;21909115 83935 Q9H2Q1 ABBA01039961;AF247167;AK314174;AMYH02025461;AP000872;BC058024;BC093843;BC112050;CH471065;NM_032021 AAG44547;AAH93843;AAI12051;BAG36857;EAW66996;NP_114410;Q9H2Q1 Hs.44004 1653321;1698756;2220584 RH102941;STS-N27860;UniSTS:485632 AD031;MGC138255 OTTHUMP00000236203 APPROVED protein-coding ENSG00000170647 HGNC:24033 12425 VALIDATED 1606177 TMEM132D transmembrane protein 132D INVOLVED IN negative regulation of phosphatase activity; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; fonofos 12 12 12 q24.33 129169510 129999521 - 129556271 130388212 - 129071726 129903667 - 6480464;8554872 11853319;12477932;12966072;14702039;19240061;19389623;19913121;20368705;20379614;20628086;21784300;21890473;22911938;22948381;23251661;23382691;23534349;23942779 121256 Q14C87 AB061814;AB075824;ABBA01019778;ABBA01019779;ABBA01019780;ABBA01019781;ABBA01019782;ABBA01019783;ABBA01019784;ABBA01019785;ABBA01019786;ABBA01019787;ABBA01019788;ABBA01019789;ABBA01019790;ABBA01019791;ABBA01019792;ABBA01019793;ABBA01019794;ABBA01019795;ABBA01019796;ABBA01019797;ABBA01019798;AC055717;AC079456;AC107033;AC117373;AC117501;AC125635;AC128708;AC130404;AC139767;AK094656;AL833234;AMYH02027536;AMYH02027537;AMYH02027538;AMYH02027539;AMYH02027540;AMYH02027541;AMYH02027542;AMYH02027543;BC114626;BC114936;CH471054;KF455738;NM_133448 AAI14627;AAI14937;BAB85530;BAC97794;CAD38636;EAW98500;NP_597705;Q14C87 Hs.507268 1335634;1336089;1337800;1704802;1707012;1707482;1713483;1720615;1722807;1736310;1746207;1746753;1752187;1754787;1757405;1760781;1767591;1779736;1782694;2148611;2163884;2184212;7186702 D12S1248E;D12S1714;D12S1851;D12S367;D12S60;G17643;G41788;G59117;G60345;G64717;G64751;RH120225;SGC33653;SHGC-106049;SHGC-140997;SHGC-144296;SHGC-144798;SHGC-153706;SHGC-155073;SHGC-79868;SHGC-81009;SHGC-84536 KIAA1944;MGC138770;MGC138771;MOLT;PPP1R153 OTTHUMP00000238713;mature OL transmembrane protein;mature oligodendrocytes transmembrane protein protein-coding ENSG00000151952 HGNC:29411 13906 611257 VALIDATED 1604784 TMEM134 transmembrane protein 134 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; dimethyl sulfoxide; doxorubicin 11 11 11 q13.2 64565025 64569937 - 67231819 67236748 - 67464348 67469277 - 6480464 12477932;15146197;19322201;21103663;22855487;23142642;8619474;9110174 80194 B4DLG6;B4E0E3;G3V1M5;Q9H6X4 AA830850;ABBA01024032;AK025402;AK296988;AK303342;AK310743;AMYH02024997;AP003419;AW249982;AY007143;BC013883;BC051854;BC125134;BG488634;BG719036;BM920758;BX400047;CH471076;CN336445;DN999439;HY053672;HY059123;NM_001078650;NM_001078651;NM_025124;NR_073409;NR_073410;NR_073411;NR_073412;NR_073413;XM_006718693;XR_428924;XR_428925;XR_428926;XR_428927 AAH13883;AAI25135;BAB15126;BAG59528;BAG64405;EAW74631;EAW74632;EAW74633;EAW74634;EAW74635;EAW74636;NP_001072118;NP_001072119;NP_079400;Q9H6X4;XP_006718756 Hs.288761 2186207;2191607;5022578 D1S1423;MARC_27482-27483:1034360590:3;RH78667 FLJ21749;MGC149891 OTTHUMP00000237648;OTTHUMP00000238411 protein-coding ENSG00000172663 HGNC:26142 08642 VALIDATED 1603164 TMEM136 transmembrane protein 136 FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; copper(2+) sulfate 11 11 11 q23.3 117354721 117360805 + 120195838 120204397 + 120325129 120333682 + 6480464 12477932;14702039;16344560 219902 A8K0W5;Q6ZRR5 ABBA01039658;AK096207;AK128040;AK289680;AK294713;AK304086;AMYH02025676;AP001150;AX400068;BC015232;CH471065;DA097438;DA331965;KF455557;NM_001198670;NM_001198671;NM_001198672;NM_001198673;NM_001198674;NM_001198675;NM_174926;XM_006718785 AAH15232;BAC87244;BAF82369;BAG57865;BAG64992;CAD33512;EAW67505;EAW67506;NP_001185599;NP_001185600;NP_001185601;NP_001185602;NP_001185603;NP_001185604;NP_777586;Q6ZRR5;XP_006718848 Hs.643516 2152569;5015619;5022641;5022651;5037552 D11S2843;D11S2921;D11S3114;D8S2279;WI-12464 MGC17839 OTTHUMP00000231990;OTTHUMP00000231991;OTTHUMP00000231992 protein-coding ENSG00000181264 HGNC:28280 14461 VALIDATED 1604817 TMEM138 transmembrane protein 138 This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 11 11 11 q12.2 58464854 58472359 + 61129473 61136977 + 61362001 61369505 + 6480464;8699517;7240710;8554872 11042152;12477932;14702039;20301500;20301743;22282472 51524 J3QSZ6;Q9NPI0 ABBA01003199;AF151030;AF151032;AI097052;AI768672;AK027724;AK303219;AK307371;AL832879;AMYH02024878;AP003108;BC005201;BI907037;CB956757;CH471076;FB746706;NG_032581;NM_016464;NR_028473;XM_006718585;XM_006718586;XM_006718587;XM_006718588 AAF36116;AAF36118;AAH05201;ABM83437;ABM86651;BAG64306;CAI46174;CAT04673;EAW73943;NP_057548;Q9NPI0;XP_006718648;XP_006718649;XP_006718650;XP_006718651 Hs.406530 1644676;1647140;1731277;1774968;2121388;2129406;5014051;5037552 D11S678;D8S2278;D8S2279;G29127;RH65055;RH79064;STS-AA041383;STS-R78498 HSPC196;JBTS16 OTTHUMP00000238071 APPROVED protein-coding ENSG00000149483 HGNC:26944 13713 614459;614465 REVIEWED 1603382 TMEM135 transmembrane protein 135 INVOLVED IN peroxisome organization (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN peroxisome (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 11 11 11 q14.2 84060241 84351174 + 86748886 87039876 + 87037844 87328834 + 6480464;8554872 12477932;16344560;20379614;21890473;21906983;21963094;24250222;24430505;8125298;9915854 65084 E9PIS2;E9PJX0;E9PQL0;Q86UB9;Q8N605 ABBA01017311;ABBA01017312;ABBA01017313;AF080569;AK000684;AK024853;AK025757;AK225364;AK291804;AK296774;AK302473;AL834493;AMYH02025239;AMYH02025240;AMYH02025241;AMYH02025242;AMYH02025243;AMYH02025244;AMYH02025245;AMYH02025246;AP000811;AP001102;AP002967;BC012553;BC030952;BC051462;BX487598;BX648678;CH471076;DB325683;DB469024;KF455433;NM_001168724;NM_022918;NR_033149;XM_006718667;XM_006718668 AAD16010;AAH12553;AAH30952;AAH51462;BAB15233;BAF84493;BAG59353;BAG63762;CAD39151;CAH10546;EAW75148;EAW75149;EAW75150;NP_001162195;NP_075069;Q86UB9;XP_006718730;XP_006718731 Hs.188591;Hs.490745 1661841;1688570;1719359;1738105;1753051;1765009;1771032;1772887;1782262;2124651;2186621 D11S3733;D11S4582;RH123407;RH68686;RH94063;SGC35030;SHGC-112022;SHGC-148560;SHGC-79093;STS-H93000;WI-11715 DKFZp686I1974;FLJ22104;PMP52 OTTHUMP00000235541;OTTHUMP00000235543;OTTHUMP00000235545;peroxisomal membrane protein 52 protein-coding HGNC:26167 07978 VALIDATED 1602298 TMEM139 transmembrane protein 139 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-) 7 7 7 q34 137818928 137822006 + 142982040 142985141 + 143284899 143288049 + 6480464 12477932;12690205;12975309;15231748;16303743;16344560;16712791;17213182;19773279;24250222;8889548 135932 Q8IV31 ABBA01034134;AC073342;AK075067;AK172816;AK315170;AMYH02016934;AY358781;BC016719;BC035517;BC035888;BC048333;BE018738;BE562464;BF036500;BI761527;CB142336;CB156055;CB241413;CH236959;CH471198;DA626625;DA628164;DA839855;DB222115;DT220400;HY180523;NG_029248;NM_001242773;NM_001242774;NM_001242775;NM_001282876;NM_001282877;NM_153345;NR_040003;NR_104250;NR_104251;NR_104252;NR_104253;NR_104254;R69052 AAH16719;AAH35517;AAQ89141;BAC11382;BAD18786;BAG37612;EAL23784;EAW51871;EAW51872;EAW51873;EAW51874;EAW51875;NP_001229702;NP_001229703;NP_001229704;NP_001269805;NP_001269806;NP_699176;Q8IV31 Hs.17558;Hs.731832 1697432;1767210;2174901;2186044 A004G42;GDB:4585585;RH102216;RH12751 FLJ90586 OTTHUMP00000202122;OTTHUMP00000202123;OTTHUMP00000202124;OTTHUMP00000202125 protein-coding ENSG00000178826 HGNC:22058 08298 VALIDATED 1602669 TMEM141 transmembrane protein 141 FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; copper(2+) sulfate 9 9 9 q34.3 110199411 110201403 + 139685777 139687769 + 136791325 136793317 + 6480464 12477932;15164053;15489334;16712791;17207965;20305087;24250222;8889548 85014 Q96I45 ABBA01022721;AL355987;AMYH02021911;BC007834;BU740670;CB107060;CH471090;NM_032928 AAH07834;ADQ32379;EAW88277;NP_116317;Q96I45 Hs.356744 1681390;1683168 RH76770;RH91466 MGC14141;RP11-216L13.7 OTTHUMP00000022604 protein-coding ENSG00000244187 HGNC:28211 17490 VALIDATED 1605364 TMEM140 transmembrane protein 140 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-) 7 7 7 q33 129570241 129588443 + 134832766 134850967 + 135148014 135166215 + 6480464 12477932;12690205;14702039;15489334;16344560;17207965;8125298;8889548 55281 Q9NV12 ABBA01001113;AC083862;AK001862;AK225055;AK301268;AMYH02016813;BC020942;BM512090;BU683951;CH236950;CH471070;DB064371;DC323016;NM_018295 AAH20942;ADQ32793;BAA91948;BAG62831;EAL24065;EAW83839;NP_060765;Q9NV12 Hs.521213 1673350;1673675;1685542;1697316;1697522;1776014;2140899;2145845 GDB:1317588;GDB:4585155;RH102155;RH102265;RH80739;WI-18052;WI-18226;WI-18251 FLJ11000 OTTHUMP00000207984 protein-coding ENSG00000146859 HGNC:21870 07723 VALIDATED 1601730 TMEM132C transmembrane protein 132C ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; pirinixic acid 12 12 12 q24.32 128364584 128805155 + 128751948 129192460 + 128267403 128707915 + 6480464;8554872 18187620;19389623;20379614;21423239;23456168;24025145 92293 Q8N3T6 ABBA01019761;ABBA01019762;ABBA01019763;ABBA01019764;ABBA01019765;ABBA01019766;ABBA01060291;AC023595;AC061709;AC090424;AC107020;AC126612;AK126715;AL122107;AL831921;AL832160;AMYH02027525;AMYH02027526;AMYH02027527;AMYH02027528;NM_001136103 BAG54364;CAD38581;CAH10715;NP_001129575;Q8N3T6 Hs.49599 1336703;1339192;1691152;1746541;1757767;1757803;1762615;1779332;1782704;1784090 D12S1609;D12S1679;G64699;RH99106;SHGC-146423;SHGC-146477;SHGC-146555;SHGC-152883;SHGC-153334;SHGC-155276 DKFZp761O2018;PPP1R152 OTTHUMP00000224678 protein-coding ENSG00000181234 HGNC:25436 PROVISIONAL 1602477 TMEM143 transmembrane protein 143 INVOLVED IN hematopoietic progenitor cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion; INTERACTS WITH aflatoxin B1; pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.33 45700849 45732430 - 48835613 48867489 - 48332359 48363929 - 6480464;8554872 11256614;12477932;12975309;19913121;20628086;20877624;24250222 55260 B4DMT0;B4DPF8;M0QZ02;M0R153;M0R1H7;M0R325;Q96AN5 ABBA01032999;ABBA01033000;AC008392;AC011514;AC020955;AK129801;AK291521;AK294408;AK297591;AK297610;AK298317;AK303635;AMYH02036293;AMYH02036294;AMYH02036295;AY358161;BC016919;BC040021;CH471177;NM_018273 AAH16919;AAQ88528;BAF84210;BAG57660;BAG59978;BAG59992;BAG60570;BAG64642;EAW52335;EAW52336;EAW52337;EAW52338;NP_060743;Q96AN5 Hs.351335 1697684 RH102358 FLJ10922 protein-coding ENSG00000161558 HGNC:25603 08556 PROVISIONAL 9479249 TMEM147-AS1 TMEM147 antisense RNA 1 19 19 19 32745093 32749870 - 36031640 36036931 - 35540738 35546029 - 14702039 100506469 ABBA01018746;AC002389;AK092032;AMYH02035985;BC024262;CR627053;HG510682;NR_038396 Hs.661816 ncrna ENSG00000236144 HGNC:51273 VALIDATED 1602052 TMEM145 transmembrane protein 145 INVOLVED IN G-protein coupled receptor signaling pathway (inferred); response to pheromone (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); mono(2-ethylhexyl) phthalate (ortholog) 19 19 19 q13.2 39618273 39630010 + 42817477 42829214 + 42313325 42325062 + 6480464;8554872 14702039;16303743;16344560;24250222 284339 M0QZK1;M0QZX2;Q8NBT3 ABBA01040846;AC024078;AK075286;AMYH02036149;CH471126;CQ783419;DA694683;NM_173633;XM_005258781 BAC11522;CAF86623;EAW57128;EAW57129;EAW57130;NP_775904;Q8NBT3;XP_005258838 Hs.382075 FLJ90805 protein-coding ENSG00000167619 HGNC:26912 08300 VALIDATED 1605072 TMEM144 transmembrane protein 144 FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; cisplatin 4 4 4 q32.1 156473824 156518860 + 159122749 159176439 + 158201597 158255287 + 6480464 12477932;14702039;17207965 55314 D6R9I0;D6R9U5;D6RAX5;D6RCA2;D6RDF9;D6RDI4;D6RDN8;D6RIX5;Q7Z5S9 ABBA01070203;AC098679;AK002017;AMYH02010368;BC026318;BC035811;BC036551;BC048117;BC050297;BC054487;BC060875;CH471056;NM_018342;XM_005263110;XM_005263112;XM_006714254;XM_006714255 AAH36551;AAH48117;AAH54487;AAH60875;ADQ32959;BAA92037;EAX04858;EAX04859;EAX04860;EAX04861;EAX04862;NP_060812;Q7Z5S9;XP_005263167;XP_005263169;XP_006714317;XP_006714318 Hs.176227 1697890;1775541;1848101;2169505 D4S445;RH102473;SHGC4-1558;STS-N34526 FLJ11155 OTTHUMP00000220509 protein-coding ENSG00000164124 HGNC:25633 07736 VALIDATED 1607077 TMEM147 transmembrane protein 147 FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; diazinon 19 19 19 q13.1 32749998 32751881 + 36036502 36038429 + 35545600 35547527 + 6480464 12477932;14667819;15489334;16189514;16341674;20538592;21139048;21906983;23142642;23864651 10430 A8MU21;K7ELX3;Q9BVK8 ABBA01018746;AC002389;AMYH02035985;AW130399;AW473288;BC001118;BG697070;BM423809;BM765457;NM_001242597;NM_001242598;NM_032635;Y18007 AAH01118;CAA77013;NP_001229526;NP_001229527;NP_116024;Q9BVK8 Hs.9234 1677326;1768155;1851678;2157954;2191713 D19S678E;MARC_5519-5520:996690497:1;RH45737;RH79664;WI-16652 MGC1936;NIFIE14 OTTHUMP00000045776;OTTHUMP00000045777;OTTHUMP00000045779;protein NIFIE 14;seven transmembrane domain protein protein-coding ENSG00000105677 HGNC:30414 17633 613585 VALIDATED 1353543 TMEM14D transmembrane protein 14D (pseudogene) FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 10 10 10 q21.3 63579224 63580144 - 70303776 70304697 - 68544019 68544940 - 6480464 645203 A8MWL7 ABBA01019575;AL713888;AMYH02023256;NG_023183 A8MWL7 TMEM14DP;bA524O24.3 transmembrane protein 14D APPROVED pseudo HGNC:15660 VALIDATED 1317058 TMEM14A transmembrane protein 14A FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid 6 6 6 p12.2 54196977 54212463 + 52535884 52551386 + 52671086 52686588 + 1580863;6480464 12477932;14574404;15489334;16712791;17207965;19322201;21723035;23142642;24250222 28978 Q9Y6G1 ABBA01050550;ABBA01050551;AF078864;AF239771;AK312063;AL109918;AMYH02013735;AX971081;BC015097;BC019328;CB117714;CH471081;CS072353;NM_014051 AAD44496;AAF59948;AAH15097;AAH19328;ADQ32420;BAG34999;CAF16189;CAI93491;EAX04379;EAX04380;EAX04381;NP_054770;Q9Y6G1 Hs.94896 2142578 WI-18384 C6orf73;PTD011 OTTHUMP00000016609 protein-coding ENSG00000096092 HGNC:21076 15522 VALIDATED 1313920 TMEM14C transmembrane protein 14C INVOLVED IN heme biosynthetic process (inferred); FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; disodium selenite; ethyl methanesulfonate 6 6 6 p24.2 11951641 11959855 + 10723148 10741577 + 10722915 10741344 + 737633;1580863;6480464 12477932 11042152;12958361;15489334;19656490;20877624;21988832;22087225;22939629;24250222;8125298 51522 Q9P0S9 ABBA01022084;AF151028;AF164962;AK223462;AK309591;AK310191;AL024498;AL358777;AL702149;AMYH02013098;AV737904;BC002496;BC010086;CH471087;CX784985;NM_001165258;NM_016462;XM_005249175 AAF36114;AAH02496;AAH10086;AAQ13593;ABM83488;ABM86703;BAD97182;EAW55271;EAW55272;EAW55273;EAW55274;EAW55275;NP_001158730;NP_057546;Q9P0S9;XP_005249232 Hs.519557 2109973;5016856;5017360 RH48992;SHGC-172;TMEM14C_9731 C6orf53;HSPC194;MSTP073;NET26;bA421M1.6 OTTHUMP00000016019 protein-coding ENSG00000111843 HGNC:20952 15524 615318 VALIDATED 2301123 TMEM14E transmembrane protein 14E FOUND IN integral component of membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 3 3 3 q25.1 150475589 150476881 - 152057487 152058779 - 152339698 152340990 - 6480464 10737800;12975309 645843 Q6UXP3 ABBA01058897;AC026347;AMYH02007910;AW866456;AY358260;CH471052;NM_001123228 AAQ88627;EAW78784;NP_001116700;Q6UXP3 Hs.632562 1716077 RH121002 OTTHUMP00000216109;transmembrane protein 14-like protein-coding HGNC:34386 PROVISIONAL 1605297 TMEM150A transmembrane protein 150A INVOLVED IN catabolic process (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH copper(2+) sulfate; coumestrol; cyclosporin A 2 2 2 p11.2 85653954 85658106 - 85825670 85829822 - 85598547 85602699 - 6480464 10858565;11076863;11230166;12477932;14702039;15489334;15489336;15815621;16344560;16381901;17207965 129303 C9JN48;F2Z311;F8VVL7;Q86TG1 ABBA01075761;AC016753;AK074505;AK098152;AK291879;AMYH02004184;AW009533;BC050466;BX647409;CH471053;CQ782434;DA434376;NM_001031738;NR_033179;XM_006711930;XM_006711931;XM_006711932 AAH50466;AAY24344;ADQ33127;BAC11029;BAF84568;CAF85721;CAL37402;EAW99496;EAW99497;EAW99498;EAW99499;EAW99500;EAW99501;EAW99502;EAW99503;NP_001026908;Q86TG1;XP_006711993;XP_006711994;XP_006711995 Hs.591559 1646580;1651578;1683968;1751807;5019619 A005B34;D2S2855;G32218;RH92941;SHGC-105800 FLJ90024;TM6P1;TMEM150 OTTHUMP00000160668;OTTHUMP00000160669;OTTHUMP00000203094;fasting-inducible integral membrane protein TM6P1;transmembrane protein 150 protein-coding ENSG00000168890 HGNC:24677 17006 VALIDATED 2304150 TMEM150B transmembrane protein 150B This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 19 19 19 q13.42 52865217 52877710 - 55823653 55845416 - 55312285 55325340 - 6480464 12477932;15057824;19448619;22267201;23307926 284417 A6NC51;K7EKL2;K7EKW5;K7EM00;K7ENI3 ABBA01068108;ABBA01068109;AC020922;AMYH02036459;AU311823;BC020862;BC171893;BC171901;BC171904;CH471135;NM_001085488;NM_001282011;NR_104066;NR_104071;XM_005258812;XM_006723166;XM_006723167 A6NC51;AAI71904;EAW72362;NP_001078957;NP_001268940;XP_005258869;XP_006723229;XP_006723230 Hs.382625 5022450;5127831 D10S275;SHGC-148662 TMEM224 hCG1651476;transmembrane protein 224;transmembrane protein LOC284417 protein-coding ENSG00000180061 HGNC:34415 REVIEWED 1606118 TMEM151A transmembrane protein 151A FOUND IN integral component of membrane (inferred); INTERACTS WITH hydrogen peroxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 11 11 11 q13.2 63381653 63383997 + 66059373 66064135 + 66291902 66296664 + 6480464 12477932;15489334;21926972;8889548 256472 Q8N4L1 ABBA01024086;AL834459;AMYH02024975;AP001107;BC033898;BC035477;BM727563;BU732410;CH471076;DB477253;NM_153266 AAH33898;CAD39119;EAW74510;NP_694998;Q8N4L1 Hs.399779 2140230 STS-R15443 MGC33486;TMEM151 OTTHUMP00000234427;transmembrane protein 151 protein-coding ENSG00000179292 HGNC:28497 14564 VALIDATED 1603167 TMEM154 transmembrane protein 154 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 4 4 4 q31.3 150870969 150924892 - 153547266 153601317 - 152626114 152680165 - 6480464 12477932;14702039;17207965;8889548 201799 D6R923;Q6P9G4 ABBA01070124;AC106882;AK056590;AK296694;AK309319;AMYH02010310;AMYH02010311;AMYH02010312;BC019600;BC060775;BM194190;BU688947;CH471056;NM_152680;XM_005262809;XR_427533 AAH19600;AAH60775;ADQ32455;BAB71226;BAG59288;EAX04974;EAX04975;NP_689893;Q6P9G4;XP_005262866 Hs.518900 1684014;1715401;1765329;2169787 D4S1298;RH120533;RH99297;SHGC-148822 FLJ32028 OTTHUMP00000220277 protein-coding HGNC:26489 08719 VALIDATED 1604239 TMEM155 transmembrane protein 155 FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; dasatinib (anhydrous) 4 4 4 q27 120065643 120071897 - 122680085 122686516 - 121758930 121765361 - 6480464 12477932;14702039;15489334;15815621;16344560 132332 D6R9V5;Q4W5P6 ABBA01044729;AC079341;AK055396;AK310583;AMYH02010013;BC047657;BC059365;BI757990;CH471056;DA176165;NM_152399;XM_005262737;XM_005262740 AAH47657;AAY40967;BAB70915;EAX05253;EAX05254;EAX05255;NP_689612;Q4W5P6;XP_005262794;XP_005262797 Hs.27524;Hs.607691 1653106;1776000;1850865 Cda1kd08;SHGC-19128;SHGC-50333 FLJ30834 OTTHUMP00000164027;OTTHUMP00000164028;OTTHUMP00000164029;OTTHUMP00000219988 protein-coding ENSG00000164112 HGNC:26418 08089 VALIDATED 3564030 TMEM150C transmembrane protein 150C FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; all-trans-retinoic acid; coumestrol 4 4 4 q21.22 80696582 80774150 - 83404329 83483595 - 82484451 82561973 - 6480464 12477932;14702039;21906983 441027 B9EJG8;D6RAQ9;D6RDW6 ABBA01063436;ABBA01063437;AC067942;AK023055;AK297434;AK297512;AK299942;AK301116;AMYH02009599;AMYH02009600;AMYH02009601;AMYH02009602;BC147019;BC147027;CH471057;NM_001080506 AAI47020;AAI47028;B9EJG8;BAH12581;BAH12599;BAH13178;BAH13412;EAX05896;NP_001073975 Hs.507676 1666619;1699226;2126963;2166035;5014740;5015961 D15S1477;D17S610;RH103194;RH16393;SHGC-67910;STS-N39092 FLJ12993 OTTHUMP00000219680;OTTHUMP00000219682;OTTHUMP00000219684 protein-coding ENSG00000249242 HGNC:37263 PROVISIONAL 1350981 TMEM151B transmembrane protein 151B ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH lead(0); lead(2+); C60 fullerene (ortholog) 6 6 6 p21.1 45791633 45800339 + 44238480 44247182 + 44270743 44279445 + 6480464;8554872 12477932;14702039;19773279;7894479;8889548 441151 H0Y9J4;Q8IW70 ABBA01050641;AK094365;AK124502;AK126839;AL139392;AL353588;AMYH02013657;BE671218;BM664874;L35592;NM_001137560 NP_001131032;Q8IW70 Hs.632851 1712581;1735610;1735630;1794022;2170479;2170481;2178390;2179126;5023733 A006H03;AU048745;D17Mit35;D6S1208E;D6S1246E;G20796;PMC310739P2;SHGC-32092;WI-15359 C6orf137;FLJ37046;FLJ42511;FLJ44683;FLJ44891;TMEM193;bA444E17.5 OTTHUMP00000016527;transmembrane protein 193 protein-coding ENSG00000178233 HGNC:21315 VALIDATED 1344544 TMEM14B transmembrane protein 14B FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; cobalt dichloride 6 6 6 p25.1-p23 11976468 11985687 + 10747995 10770389 + 10747759 10759774 + 1580863;6480464 12477932;15342556;15489334;16344560;17207965;22939629;24250222;8889548 81853 B4DFL6;C9J786;C9JCY4;C9JDJ4;C9JQS0;F2Z2F8;F8WBI7;H7C541;H7C5F1;Q9NUH8 ABBA01022085;AI343263;AK291883;AK294152;AK311340;AL024498;AMYH02013098;BC001033;BC007080;BC013913;BC071660;BG288654;BG432075;BP249229;BQ045109;BQ056988;BU954633;CH471087;DA508140;NM_001127711;NM_001286484;NM_001286488;NM_001286489;NM_030969;NR_104454 AAH01033;AAH07080;AAH13913;AAH71660;ADQ31961;BAF84572;BAG57477;EAW55276;EAW55277;EAW55278;EAW55279;EAW55280;EAW55281;NP_001121183;NP_001273413;NP_001273417;NP_001273418;NP_112231;Q9NUH8 Hs.667371;Hs.95600 1687123;5016856;5017360;5037552 D8S2279;RH48992;RH92148;SHGC-172 FLJ60468;MGC1223 OTTHUMP00000016023;OTTHUMP00000016024;OTTHUMP00000214289;OTTHUMP00000214290;OTTHUMP00000214297;OTTHUMP00000214298;OTTHUMP00000214299;OTTHUMP00000214300 protein-coding ENSG00000137210 HGNC:21384 15523 VALIDATED 1605045 TMEM156 transmembrane protein 156 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; calcitriol 4 4 4 p14 39406541 39471858 - 38968052 39034041 - 38966424 39032421 - 6480464;8554872 12477932 80008 J3KNV8;Q8N614 ABBA01004117;AC079921;AK026888;AMYH02009040;AMYH02009041;AMYH02009042;BC030803;BC060512;CH471069;KF510863;NM_024943;XM_005262669;XM_005262670 AAH30803;BAB15583;EAW92905;EAW92906;EAW92907;NP_079219;Q8N614;XP_005262726;XP_005262727 Hs.374147 1700110 RH103668 FLJ23235 OTTHUMP00000158734;OTTHUMP00000218213 protein-coding ENSG00000121895 HGNC:26260 08022 PROVISIONAL 733049 TMEM158 transmembrane protein 158 (gene/pseudogene) Constitutive activation of the Ras pathway triggers an irreversible proliferation arrest reminiscent of replicative senescence. Transcription of this gene is upregulated in response to activation of the Ras pathway, but not under other conditions that induce senescence. The encoded protein is similar to a rat cell surface receptor proposed to function in a neuronal survival pathway. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 45204342 45206200 - 45265956 45267814 - 45224464 45226322 - 6480464 11399754;11822868;12477932;15486950;16083501;16280139;16575872;16737913 25907 Q8WZ71 AB078417;ABBA01024732;ABBA01024733;AC010170;AF438313;AL080235;AMYH02006657;BC057390;BQ000094;BU627971;BX401325;BX459891;CH471055;FJ695198;HI574150;NM_015444 AAH57390;AAL30845;BAC05687;CAB45781;CBX47564;EAW64739;NP_056259;Q8WZ71 Hs.740403 2157749 SHGC-34650 BBP;DKFZp586E1621;RIS1;p40BBP 40 kDa BINP-binding protein;BINP receptor;OTTHUMP00000218001;Ras induced senescence 1;brain injury-derived neurotrophic peptide (BINP) binding protein;brain specific binding protein;transmembrane protein 158 APPROVED protein-coding ENSG00000249992 HGNC:30293 15252 REVIEWED 1601747 TMEM159 transmembrane protein 159 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; copper atom; copper(0) 16 16 16 p12 20479745 20501782 + 21169703 21191937 + 21158382 21180616 + 6480464 12401792;12477932;15589683;16303743;16344560;17207965;17562024;19322201;20379614;21139048;8619474;9110174 57146 I3L288;I3L319;I3NI21;I3NI23;Q96B96 ABBA01028293;ABBA01028294;AC008551;AF001550;AF070596;AI968069;AK074667;AK293557;AL694739;AMYH02031673;AMYH02031674;AW575176;AY212918;BC015812;BI821683;CB128337;CH471228;CQ783556;CU448562;CX786237;DA893031;DB054887;NM_001301769;NM_001301771;NM_001301773;NM_001301774;NM_001301775;NM_020422;NR_125971;XM_005255438;XM_005255439;XM_005255440;XM_006721066;XM_006721067;XM_006721068;XM_006721069 AAB67598;AAH15812;AAO52682;ADQ33165;BAC11122;BAG57032;CAF86723;EAW66854;EAW66855;EAW66856;EAW66857;EAW66858;NP_001288698;NP_001288700;NP_001288702;NP_001288703;NP_001288704;NP_065155;Q96B96;XP_005255495;XP_005255496;XP_005255497;XP_006721129;XP_006721130;XP_006721131;XP_006721132 Hs.258212 1647629;2158142;2166354 Cda0pg10;D16S2955;D16S734 OTTHUMP00000162297;promethin protein-coding ENSG00000011638 HGNC:30136 17428 611304 VALIDATED 7205016 TMEM161BP1 transmembrane protein 161B pseudogene 1 10 10 10 p11.21 37397120 37398576 + 37626343 37627799 + 37337414 37339771 + 11181995;17903294 646360 ABBA01033303;AL157387;AMYH02022654;CH471072;NG_022901 EAW85902;EAW85903 pseudo HGNC:44973 INFERRED 1603037 TMEM161A transmembrane protein 161A INVOLVED IN cellular response to oxidative stress; cellular response to UV; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage; FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; pirinixic acid; 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p13.11 19135267 19154101 - 19230425 19249310 - 19119616 19138501 - 6480464 12477932;12975309;14702039;15604093;16344560;16551573;21139048;21890473;21906983;22505724;8125298 54929 K7EJK6;K7EKY7;K7EPA3;K7EQ34;K7EQE7;Q9NX61;U3KQT6;V9GYP8 ABBA01051309;ABBA01051310;ABBA01051311;AC002126;AK000429;AK096964;AK225424;AMYH02035751;AY358088;BC005210;BC016478;CH471106;DA268563;DB311771;DB353676;NM_001256766;NM_017814;XM_005259976 AAH05210;AAH16478;AAQ88455;ADZ15381;BAA91159;BAG53402;EAW84780;EAW84781;EAW84782;EAW84783;EAW84784;EAW84785;EAW84786;EAW84787;NP_001243695;NP_060284;Q9NX61;XP_005260033 Hs.631629 2154725 WI-14120 AROS-29;FLJ20422;FLJ39645 adaptive response to oxidative stress protein 29 protein-coding ENSG00000064545 HGNC:26020 07905 VALIDATED 6480801 TMEM161B-AS1 TMEM161B antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 5 5 5 q14.3 83456511 83625438 + 87564699 87732491 + 88268882 88436674 + 6480464;8554872 12477932;15146197;16344560;21890647;8889548 100505894 ABBA01062128;ABBA01062129;ABBA01062130;ABBA01062131;ABBA01062132;ABBA01062133;ABBA01062134;AC010243;AC016555;AC091826;AC114978;AMYH02011757;AMYH02011758;AMYH02011759;BC030122;BC047059;BF056341;BF672668;BM719684;CN260565;DA317999;DA782199;HG498175;HG498176;HG498178;HG498180;HG498183;HY089208;NR_039993;NR_039994;NR_039995;NR_105019;NR_105020 Hs.559426 1699820;1711398;2114986;2127581;2163526;5126586 D5S2566;D5S2855;G29279;G42183;RH103517;SGC34350 linc-POLR3G-8 APPROVED ncrna ENSG00000247828 HGNC:43839 VALIDATED 1603558 TMEM161B transmembrane protein 161B ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN DNA integration (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH amiodarone; benzo[a]pyrene diol epoxide I; paracetamol 5 5 5 q14.3 83382871 83456477 - 87485450 87564665 - 88189633 88268879 - 6480464;8554872 12477932;12975309;19913121;20628086;23776548;24250222 153396 B7Z6A5;B7Z6T3;B7Z6X1;D6RAK4;D6RAR3;D6RBE8;E9PCX5;E9PFW6;Q8NDZ6 ABBA01062128;AC010243;AI570193;AK299896;AK300006;AK300893;AK301091;AMYH02011755;AMYH02011756;AMYH02011757;AY358693;BC037287;BM479365;BX390411;BX647345;BX648757;CH471084;DW423642;DW443954;NM_001289007;NM_001289008;NM_153354;NR_110266;XM_006714553;XM_006714554;XM_006714555;XM_006714556;XM_006714557 AAH37287;AAQ89056;ABM86543;ABW03664;BAH13165;BAH13191;BAH13369;BAH13407;CAI56713;EAW95937;EAW95938;EAW95939;EAW95940;EAW95941;EAW95942;EAW95943;NP_001275936;NP_001275937;NP_699185;Q8NDZ6;XP_006714616;XP_006714617;XP_006714618;XP_006714619;XP_006714620 Hs.379972 1644232;1695664;1713351;2140372;5094963 D5S1893;RH119529;SHGC-14941;SHGC-78706;TMEM161B FLB3342;MGC33214;PRO1313 OTTHUMP00000162000;OTTHUMP00000222461;OTTHUMP00000222462 protein-coding ENSG00000164180 HGNC:28483 14555 VALIDATED 1604280 TMEM163 transmembrane protein 163 ENCODES a protein that exhibits zinc ion binding (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN early endosome membrane (ortholog); integral component of synaptic vesicle membrane (ortholog); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; aflatoxin B1 2 2 2 q21.3 128926002 129189469 - 135213330 135478219 - 134455759 134719001 - 6480464;8554872 12477932;14702039;15489334;15815621;17623043;18187620;23209189;24262325 81615 Q8TC26 ABBA01028192;AC013718;AC093892;AC110620;AF255647;AI307369;AK054738;AL122044;AL833765;AMYH02004833;AMYH02004834;AW131848;BC026170;BM998960;CD705559;CH471058;KF510760;NM_030923 AAG44635;AAH26170;AAX93249;AAY24144;CAB59180;CAH10592;EAX11653;EAX11654;NP_112185;Q8TC26 Hs.369471;Hs.595089 1761669;1763389;1763527;1779868;2153698;2164686 D2S2773;SHGC-145649;SHGC-147109;SHGC-147228;SHGC-153868;WI-13570 DC29;DKFZp566N034;DKFZp666J217;FLJ30176;SV31 OTTHUMP00000162504 protein-coding ENSG00000152128 HGNC:25380 13178 VALIDATED 1604569 TMEM164 transmembrane protein 164 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; coumestrol; isotretinoin X X X q22.3 109725502 109900639 + 109245641 109421016 + 110002413 110177788 + 6480464 12477932;14702039;15146197;15342556;15489334;15772651;21906983;8889548 84187 Q5U3C3;Q9H617 ABBA01043428;ABBA01043429;ABBA01043430;ABBA01043431;ABBA01043432;ABBA01043433;ABBA01043434;ABBA01043435;ABBA01043436;ABBA01043437;ABBA01043438;ABBA01043439;ABBA01043440;ABBA01043441;ABBA01043442;ABBA01043443;ABBA01043444;ABBA01043445;AK000180;AK026332;AK057084;AK094127;AL359079;AL360224;AMYH02040226;AMYH02040227;AMYH02040228;AMYH02040229;AMYH02040230;BC002716;BC071977;BC085605;BP295095;BU681952;CH471120;CN349076;NM_017698;NM_032227;XM_005262205;XM_005262206;XM_005262208;XM_006724708 AAH85605;BAA90993;BAB15450;BAG52820;EAX02665;EAX02666;EAX02667;EAX02668;NP_060168;NP_115603;Q5U3C3;XP_005262262;XP_005262263;XP_005262265;XP_006724771 Hs.496572 1648386;1651325;2122369;2133013;2153239;2162545 AFM234WD6;DXS6822;DXS8322;L77302;RH41913;WI-14027 FLJ20173;FLJ22679;RP13-360B22.2;bB360B22.3 OTTHUMP00000023847;OTTHUMP00000023848 protein-coding ENSG00000157600 HGNC:26217 06539 VALIDATED 2881561 TMEM167AP1 transmembrane protein 167A pseudogene 1 Y Y Y q11.222 7770678 7776446 - 23063727 23069495 - 20901841 20907609 - 12815422 360028 ABBA01057489;ABBA01057490;ABBA01057491;AC009489;NG_002949 pseudo HGNC:23956 INFERRED 1603559 TMEM167A transmembrane protein 167A FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 5 5 5 q14.2 78253269 78277876 - 82348665 82373272 - 83052846 83077453 - 6480464 11181995;12477932;1316117;14702039;15489334;16344560;21890473 153339 Q8TBQ9 ABBA01062079;AC022416;AC104118;AI799606;AK000174;AK055070;AK055612;AK172803;AMYH02011709;AMYH02011710;BC026285;BC028585;BC070122;BC107575;BX647979;CH471084;DA100343;NM_174909 AAH26285;AAH28585;AAI07576;EAW95896;NP_777569;Q8TBQ9 Hs.355606 1653933;1671042;1689522;1767731;2149383;2149385 A005O23;A007J27;G20377;RH69439;SGC38225;WI-11874 DKFZp686I1152;FLJ30508;MGC23909;TMEM167 OTTHUMP00000222363;protein kish-A;transmembrane protein 167 protein-coding ENSG00000174695 HGNC:28330 14490 VALIDATED 1606276 TMEM160 transmembrane protein 160 FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 19 19 19 q13.32 44353047 44355762 - 47549167 47551882 - 47045909 47048723 - 6480464 12477932;14702039;15489334;19615732;20562859;20935630;22190034;23314748 54958 Q9NX00 ABBA01041000;ABBA01041001;AC008755;AK000519;AMYH02036244;BC002907;CH471126;NM_017854;XM_005259027;XM_006723253 AAH02907;BAA91225;EAW57455;NP_060324;Q9NX00;XP_005259084;XP_006723316 Hs.105606 FLJ20512 protein-coding ENSG00000130748 HGNC:26042 07920 PROVISIONAL 1602990 TMEM169 transmembrane protein 169 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; silicon dioxide; trichostatin A 2 2 2 q35 210716170 210737096 + 216946589 216967506 + 216081866 216102783 + 6480464 12477932;14702039;15489334;15815621;16344560;20463177;21906983 92691 C9J1P0;C9JZB1;Q96HH4 ABBA01062810;ABBA01062811;ABBA01062812;AC010686;AK091582;AK172731;AK313536;AMYH02005757;AW291087;BC008604;CH471063;CR933667;DA392602;DA718294;JA738651;JA738653;JA738655;JA738657;NM_001142310;NM_001142311;NM_001142312;NM_138390;XM_006712851 AAH08604;AAY14658;BAC03700;BAG36313;CAI45964;CCF76978;CCF76979;CCF76980;CCF76981;EAW70559;EAW70560;EAW70561;NP_001135782;NP_001135783;NP_001135784;NP_612399;Q96HH4;XP_006712914 Hs.334916 1734164;1791518;2163808;2187645;5109281 D1S1425;D2S1478;PMC113227P1;RH78434;WI-16791 DKFZp781L2456;FLJ34263 OTTHUMP00000164052;OTTHUMP00000206782;OTTHUMP00000206783;OTTHUMP00000206784;OTTHUMP00000206785 protein-coding ENSG00000163449 HGNC:25130 14293 VALIDATED 1321545 TMEM17 transmembrane protein 17 INVOLVED IN cilium assembly (ortholog); smoothened signaling pathway (ortholog); FOUND IN ciliary membrane (ortholog); ciliary transition zone (ortholog); TCTN-B9D complex (ortholog); INTERACTS WITH cyclosporin A; 2,4-dinitrotoluene (ortholog); valproic acid (ortholog) 2 2 2 p15 62572191 62578440 - 62727356 62733604 - 62460895 62506469 - 737633;6480464 12477932 14702039;15489334;15815621;17207965;22412388 200728 Q86X19 ABBA01075389;AC093159;AC107083;AK091902;AK124081;AMYH02003944;BC047439;CH471053;DR760587;NM_198276;XM_005264199;XM_006711965 AAH47439;AAY24048;AAY24170;ADQ32524;EAW99975;NP_938017;Q86X19;XP_005264256;XP_006712028 Hs.308028 5022200;5022578;5118444 D11S3316;D1S1423;L18426 FLJ34583 OTTHUMP00000159828 protein-coding ENSG00000186889 HGNC:26623 15528 614950 VALIDATED 1604539 TMEM170A transmembrane protein 170A FOUND IN integral component of membrane (inferred); INTERACTS WITH cyclosporin A; paracetamol; valproic acid 16 16 16 q23.1 59775225 59792897 - 75477136 75498584 - 75446934 75464686 - 6480464 12477932;14702039;17207965;19844255;21906983;21963094;23152477;24250222 124491 B3KT46;H3BQT8;H3BRD7;H3BS26;Q8WVE7 ABBA01058134;ABBA01058135;AC009163;AK094930;AK298475;AK311919;AMYH02032400;AY302139;BC018082;BC031860;BX647432;BX648429;BX648484;CH471114;NM_145254;XM_005255795;XM_005255796 AAH18082;AAP57631;ADQ32674;BAG34860;BAG52958;BAG60686;EAW95642;EAW95643;EAW95644;NP_660297;Q8WVE7;XP_005255852;XP_005255853 Hs.487510 1644469;1679565;2137573;5014051;5015619;5016596;5022578;5024272;5037552 D11S3114;D1S1423;D2S1254;D8S2278;D8S2279;G17942;GDB:631802;RH65159;SHGC-53415 FLJ37611;TMEM170 OTTHUMP00000174954;transmembrane protein 170 protein-coding ENSG00000166822 HGNC:29577 14027 PROVISIONAL 2293893 TMEM170B transmembrane protein 170B FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; benzo[a]pyrene 6 6 6 p24.2 12766976 12811903 + 11538460 11583757 + 11538227 11583524 + 6480464 16344560;24250222 100113407 Q5T4T1 ABBA01022104;AL357518;AMYH02013105;BE670213;DB092520;NM_001100829 NP_001094299;Q5T4T1 Hs.146317 2185664;5015961;5022578 D15S1477;D1S1423;RH47323 OTTHUMP00000016033 protein-coding ENSG00000205269 HGNC:34244 VALIDATED 1601750 TMEM165 transmembrane protein 165 This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 4 4 4 q12 53763917 53794196 + 56262080 56292342 + 55395913 55426175 + 6480464;8699517;7240710;8554872 10931946;12477932;14702039;15489334;16344560;20301507;21139048;21145461;21890473;21906983;21963094;21988832;22683087;22939629;23000965;23569283;23575229;3202867 55858 D6RBL0;D6RD79;Q9HC07;V9GY93;V9GYC8 ABBA01003412;AC069200;AF132746;AF183409;AF220188;AK026163;AK027162;AK054712;AK055076;AK290663;AK295289;AMYH02009241;AMYH02009242;BC003545;BC104978;BC104980;BC107582;CH471057;DA371259;HY089602;NG_032881;NM_018475;NR_073070;XR_427522 AAF67653;AAG09678;AAH03545;AAI04979;AAI04981;AAI07583;AAL75947;BAF83352;BAG51414;BAG58273;EAX05467;NP_060945;Q9HC07 Hs.479766 1680096;2145282;2156923;2185770;5121153 G16820;RH98838;SHGC-50745;STS-N25870;STS-N32858 CDG2K;FT27;GDT1;TMPT27;TPARL OTTHUMP00000158929;TPA regulated locus;transmembrane protein PT27;transmembrane protein TPARL APPROVED protein-coding ENSG00000134851 HGNC:30760 18216 614726;614727 REVIEWED 1604335 TMEM167B transmembrane protein 167B FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); INTERACTS WITH cyclosporin A; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p13.3 107902782 107908934 + 109633403 109639554 + 109090781 109096932 + 6480464 10931946;12477932;15489334;16710414;19322201;23000965 56900 Q9NRX6 ABBA01068370;ABBA01068371;AF164793;AK075191;AK291293;AK310192;AL356488;AMYH02001704;BC008739;BC065186;BC066918;BC067116;BC146873;BC146879;BC171849;CH471122;CS300507;NM_020141 AAF80757;AAH08739;AAH65186;AAH66918;AAH67116;AAI46874;AAI46880;AAI71849;BAF83982;CAK32171;EAW56356;EAW56357;NP_064526;Q9NRX6 Hs.82933 1685616;1690376;1696008;1854530;2132142;2157731;2165020;5015961;5037552 A002U44;D15S1477;D8S2279;HSC2NB082;RH27228;RH47769;SHGC-75274;SHGC-75301;SHGC-82776 AD-020;C1orf119;FLJ90710 OTTHUMP00000039346;protein kish-B;protein x 013 protein-coding HGNC:30187 16474 PROVISIONAL 1606157 TMEM171 transmembrane protein 171 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 7,9-dihydro-1H-purine-2,6,8(3H)-trione; aflatoxin B1 5 5 5 q13.2 68311763 68323014 + 72410286 72427765 + 73114461 73131936 + 6480464 12044878;12477932;15146197;15489334;16344560;17207965;21906983;22797727;23263486 134285 Q8WVE6 AB083614;ABBA01061914;AC116345;AMYH02011559;AMYH02011560;BC018083;BC035310;CH471084;CN261444;DB334050;KF457920;NM_001161342;NM_173490;XM_005248431;XM_005248432 AAH18083;AAH35310;ADQ32493;BAB89327;EAW95717;EAW95718;NP_001154814;NP_775761;Q8WVE6;XP_005248488;XP_005248489 Hs.162246 PRP2 OTTHUMP00000161943;OTTHUMP00000222052;proline-rich protein PRP2 protein-coding ENSG00000157111 HGNC:27031 14057 VALIDATED 1606156 TMEM174 transmembrane protein 174 ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate 5 5 5 q13.2 68364379 68366326 + 72464080 72471073 + 73168253 73175246 + 6480464;8554872 12477932;14702039;15489334;20331980;22797727;23824909 134288 Q8WUU8 ABBA01061914;AC116345;AK055830;AK315460;AMYH02011560;AX083367;BC019346;CH471084;NM_153217;XM_005248433;XM_005248434 AAH19346;ADZ15847;BAB71025;BAG37847;CAC33290;EAW95719;EAW95720;NP_694949;Q8WUU8;XP_005248490;XP_005248491 Hs.508588 1699726 RH103468 FLJ31268;MGC13034 OTTHUMP00000161942 protein-coding ENSG00000164325 HGNC:28187 14432 614909 VALIDATED 1605052 TMEM168 transmembrane protein 168 FOUND IN transport vesicle; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cobalt dichloride; copper atom 7 7 7 q31.32 107217551 107242217 - 112405364 112430768 - 112762382 112790713 - 6480464 11256614;12477932;14702039;15146197;16344560;19240061;22779921;9847074 64418 B4DDS0;C9IZT1;C9JVE9;H7C268;Q9H0V1 ABBA01057841;AC079621;AI698728;AK023638;AK025482;AK293311;AK314460;AL136626;AMYH02016586;AMYH02016587;BC030804;BX421826;CH236947;CH471070;CN256103;DA116574;DC416793;NM_001287497;NM_022484;NR_109840;XM_005250527 AAH30804;AAQ96836;BAB14624;BAG37068;BAG56831;CAB66561;EAL24373;EAW83470;EAW83471;EAW83472;NP_001274426;NP_071929;Q9H0V1;XP_005250584 Hs.606345;Hs.709689 2124305;2162223;2174692;5093866 A009Y07;G32970;RH12793;WI-18254 DKFZp564C012;FLJ13576 OTTHUMP00000207377;OTTHUMP00000207378;OTTHUMP00000207379;OTTHUMP00000207428;OTTHUMP00000207430 protein-coding ENSG00000146802 HGNC:25826 07831 VALIDATED 1602274 TMEM173 transmembrane protein 173 This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] 5 5 5 q31.2 134930158 134937391 - 138855113 138862343 - 139475528 139482758 - 6480464;6907045;8699517 12477932;14702039;15489334;17207965;18559423;18724357;18818105;19240791;19285439;19416887;19433799;20628368;21074459;21139048;21170271;21248775;21892174;21903422;22312431;22394560;22394562;22470840;22610502;22705373;22706339;22728658;22728659;22728660;22745133;22761576;22908223;22911572;23055924;23478444;23542348;23585680;23631912;23707065;23722158;23910378;24116191;24119841;24139400;24204993;24239807;24391220;24449861;24622840;25029335;8889548 340061 J3QTB1;Q86WV6 ABBA01026461;AC138517;AK095896;AK129800;AK290661;AMYH02012320;AX775913;BC047779;BE548954;BM149879;BM981219;BU731116;CH471062;FJ222241;KF430638;NG_034249;NM_001301738;NM_198282;XM_005268445 AAH47779;ACI46648;ADQ33083;AHB86590;BAF83350;CAE11656;EAW62098;EAW62099;EAW62100;NP_001288667;NP_938023;Q86WV6;XP_005268502 Hs.379754 1342068;1735572;1740487;2142881;2167261 D5S1687E;D5S2282E;D5S2676;D9S290;WI-14299 ERIS;FLJ38577;MITA;MPYS;NET23;SAVI;STING;hSTING N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner;OTTHUMP00000159544;OTTHUMP00000223442;OTTHUMP00000223443;endoplasmic reticulum IFN stimulator;endoplasmic reticulum interferon stimulator;hMITA;mediator of IRF3 activation;mitochondrial mediator of IRF3 activation;stimulator of interferon genes protein protein-coding HGNC:27962 14173 612374;615934 REVIEWED 1602320 TMEM176A transmembrane protein 176A INVOLVED IN negative regulation of dendritic cell differentiation (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene 7 7 7 q36.1 145054882 145059236 + 150497854 150502208 + 150800766 150805120 + 6480464 11967007;12097419;12477932;12690205;12853948;14702039;15489334;20881960;21103663;21988832;22244448;23563607;24097068;8889548 55365 C9JJ63;C9JRT9;H7C4P5;Q96HP8 AACC02000108;ABBA01035176;AC006479;AF258340;AK123468;AMYH02017064;BC008303;BM663079;CH471173;NM_018487 AAF68667;AAH08303;AAP21884;EAL24489;EAW54088;EAW54089;EAW54090;EAW54091;NP_060957;Q96HP8 Hs.647116 2115643;5014057;5091201 D1S3699;D7S2901;WI-20421 GS188;HCA112 OTTHUMP00000212626;OTTHUMP00000212627;OTTHUMP00000212628;OTTHUMP00000212630;hepatocellular carcinoma-associated antigen 112;likley ortholog of mouse GS188 protein-coding ENSG00000002933 HGNC:24930 13635 610334 VALIDATED 1604263 TMEM175 transmembrane protein 175 FOUND IN lysosomal membrane; INTERACTS WITH atrazine; benzo[a]pyrene; paracetamol 4 4 4 p16.3 863168 889353 + 926175 952444 + 932407 958656 + 6480464 12477932;14702039;15489334;17897319;21292315;21738487;21832049;24250222 84286 D3DVN5;D6RAJ5;D6RAU7;D6RBE5;D6RCD9;D6RDY8;D6RHV8;D6RIZ2;E7ETE6;Q9BSA9 ABBA01019346;ABBA01019347;AC019103;AK090848;AK309132;AL834199;AMYH02008563;AMYH02008564;BC005158;BC047738;BC063488;BC095416;BC118552;BI819231;CB992640;CF242841;CH471131;DA168151;NM_001297423;NM_001297424;NM_001297425;NM_001297426;NM_001297427;NM_001297428;NM_032326;XM_005272301;XM_005272302;XM_005272303;XM_005272304;XM_005272305;XM_005272306;XM_005272307;XM_006713920 AAH05158;ABM83841;ABM87163;BAG52239;CAD38888;EAW82633;EAW82634;EAW82635;EAW82636;EAW82637;EAW82638;EAW82639;EAW82640;EAW82641;EAW82642;EAW82643;NP_001284352;NP_001284353;NP_001284354;NP_001284355;NP_001284356;NP_001284357;NP_115702;Q9BSA9;XP_005272358;XP_005272359;XP_005272360;XP_005272361;XP_005272362;XP_005272363;XP_005272364;XP_006713983 Hs.478936 2141662 RH78064 MGC4618 OTTHUMP00000147524;OTTHUMP00000217332;OTTHUMP00000217338;OTTHUMP00000217340 protein-coding ENSG00000127419 HGNC:28709 14648 VALIDATED 1602302 TMEM178A transmembrane protein 178A ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 2 2 2 p22.1 39733602 39786061 + 39892638 39945103 + 39665498 39717963 + 6480464;8554872 12477932;12975309;16303743;16344560;23251661 130733 Q8NBL3 ABBA01075036;AC007246;AK075440;AMYH02003646;AY358773;BC029530;BI757636;CH471053;CS051257;DA062982;DN993805;NM_001167959;NM_152390;XM_005264144;XM_005264145 AAH29530;AAQ89133;AAX93064;ABM81922;BAC11622;CAI72124;EAX00343;EAX00344;NP_001161431;NP_689603;Q8NBL3;XP_005264201;XP_005264202 Hs.40808 1704572;1788976;1855428 G65633;SGC31151;SHGC-83094 MGC33926;TMEM178 OTTHUMP00000158744;transmembrane protein 178 APPROVED protein-coding ENSG00000152154 HGNC:28517 14577 VALIDATED 1606772 TMEM177 transmembrane protein 177 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; arsenous acid 2 2 2 q14.2 113762466 113765417 + 120436743 120439694 + 119679167 119682118 + 6480464 12477932;14702039;15146197;15489334;15815621;17207965;22939629 80775 B8ZZT5;C9J6F8;Q53S58 AA243057;ABBA01045924;AC069154;AK096890;AK130088;AK299078;AK308503;AMYH02004649;AW027286;BC004404;BG280893;BG776153;CH471103;CN258689;NM_001105198;NM_001105199;NM_030577 AAH04404;AAY24148;ADQ32290;BAG53392;BAG61144;EAW95225;EAW95226;EAW95227;EAW95228;NP_001098668;NP_001098669;NP_085054;Q53S58 Hs.439991 1697924 RH102491 MGC10993 OTTHUMP00000203668;OTTHUMP00000203669;OTTHUMP00000203671 protein-coding ENSG00000144120 HGNC:28143 14409 VALIDATED 1601691 TMEM179B transmembrane protein 179B FOUND IN integral component of membrane (inferred); INTERACTS WITH valproic acid; 3,4-methylenedioxymethamphetamine (ortholog); benzo[a]pyrene (ortholog) 11 11 11 q12.3 59883458 59886456 + 62554281 62557872 + 62786809 62790400 + 6480464 11053263;12477932;22939629;8889548 374395 G3V185;H0YEV1;Q7Z7N9 ABBA01003246;AMYH02024899;AP001160;BC051355;BE439533;BM684628;CH471076;NM_199337;XM_005273982 AAH51355;EAW74098;EAW74099;EAW74100;NP_955369;Q7Z7N9;XP_005274039 Hs.381134 1671776 STS-W92041 OTTHUMP00000236349;OTTHUMP00000236350 protein-coding ENSG00000185475 HGNC:33744 14186 VALIDATED 1346739 TMEM179 transmembrane protein 179 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); furan (ortholog) 14 14 14 q32.33 85116467 85127144 - 105059330 105071097 - 104590864 104604760 - 6480464 12508121;14702039 388021 H0YJT8;I3L0F2;Q6ZVK1 ABBA01002996;AF462446;AI299168;AK124477;AMYH02029949;AW026835;BC047917;BX927359;CH471061;NM_001286389;NM_001286390 AAI46361;AAI48845;AAP97714;BAC85860;EAW81867;EAW81868;EAW81869;NP_001273318;NP_001273319;Q6ZVK1 Hs.652298;Hs.655004 C14orf90;FLJ42486;TMEM179A OTTHUMP00000244504;OTTHUMP00000244509;OTTHUMP00000244510;chromosome 14 open reading frame 90;transmembrane protein 179A protein-coding HGNC:20137 13464 VALIDATED 1606306 TMEM176B transmembrane protein 176B INVOLVED IN cell differentiation (inferred); negative regulation of dendritic cell differentiation (inferred); organ morphogenesis (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; diazinon 7 7 7 q36.1 145045399 145055476 - 150488375 150498448 - 150791287 150801360 - 6480464 11967007;12477932;14702039;15342556;15489334;16095493;17207965;22244448;9922225 28959 Q3YBM2 AACC02000108;ABBA01035176;AC006479;AF115384;AK000841;AK097304;AK129525;AK315575;AMYH02017064;BC004358;BC014586;BC091471;BF511290;BI759037;BI761752;BI910761;BP298052;CH471173;DQ144974;NM_001101311;NM_001101312;NM_001101314;NM_014020;R95048;XM_005249983;XM_006715933 AAD23440;AAH04358;AAH14586;AAH91471;AAZ75648;ADQ31874;BAG37949;BAG53450;EAL24488;EAW54076;EAW54077;EAW54078;EAW54079;EAW54080;NP_001094781;NP_001094782;NP_001094784;NP_054739;Q3YBM2;XP_005250040;XP_006715996 Hs.647090;Hs.709505 1338778;1664257;1767031;2109479;2116703;2118446;2183280;7187448 D7S505;LR8_9562;RH12854;RH68274;RH78660;SHGC-152676;STS-H41084 FLJ26014;LR8;MGC110857 LR8-like protein;OTTHUMP00000212294;OTTHUMP00000212295;OTTHUMP00000212296;OTTHUMP00000212297;OTTHUMP00000212298;OTTHUMP00000212299 protein-coding ENSG00000106565 HGNC:29596 17443 610385 VALIDATED 6767208 TMEM178B transmembrane protein 178B ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 7 7 7 q34 135495856 135892222 + 140774032 141180180 + 141074232 141480380 + 6480464;8554872 12690205;14702039;20379614;9847074 100507421 H3BS89 ABBA01034092;ABBA01034093;ABBA01034094;ABBA01034095;ABBA01034096;ABBA01034097;ABBA01034098;ABBA01034099;ABBA01034100;AC004928;AC005692;AC006362;AC006396;AC073878;AK096481;AK124873;AL359605;AMYH02016915;AMYH02016916;AMYH02016917;CH236950;NM_001195278 H3BS89;NP_001182207 Hs.283851 1663327;1692684;1709824;1721757;1722399;1722587;1735660;1735688;1774017;1794810;1847331;1854743;1855408;1856478;1858520;2114479;2128804;2139878;2146211;2156078;2157206;2163896;2165087;2168412;2176808;2178907;2185113;5023733 AL034110;AU048745;D7S111;D7S1779;D7S2119E;D7S2144E;D7S2319;D7S2804;D7S2819;D7S545E;G59746;G60272;G60375;GDB:1317226;GDB:1317290;GDB:1317548;GDB:1317554;GDB:1317726;GDB:1317790;GDB:3754387;GDB:4584945;GDB:4585169;GDB:4585189;PMC58741P2;RH18406;SHGC-31093;SHGC-84731;WI-16153 transmembrane protein 178-like protein-coding ENSG00000261115 HGNC:44112 PROVISIONAL 1344776 TMEM18 transmembrane protein 18 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN cell migration; FOUND IN nuclear membrane; INTERACTS WITH (R)-pantothenic acid; 5-aza-2'-deoxycytidine; menadione 2 2 2 p25.3 731656 741361 - 667793 677439 - 667973 677439 - 737633;6480464 12477932 17207965;18559506;19079260;19079261;19164386;19240061;19692490;19746409;19812171;19851340;19910938;20215397;20380707;20386550;20421936;20520848;20571754;20628085;20712903;20724581;20725061;20816152;20816195;20935630;21102462;21720444;21750520;21890473;21906983;21952719;21963094;21980424;22083549;22229870;22391885;22466342;23000965;23149075;23229156;23251661;23505181;23563607;23563609;23669352;23860325;24064335 129787 B5MBX8;F8WBA6;F8WEA7;Q96B42 ABBA01035634;ABBA01035635;AC092159;AK125009;AL137269;AMYH02003163;BC016010;BC032379;BC040373;CH471053;NM_152834 AAH16010;AAH32379;AAY14770;ADQ31703;CAB70668;EAX01097;EAX01098;EAX01099;EAX01100;EAX01101;NP_690047;Q96B42 Hs.43899 1699500;1854577 RH103344;RH69423 DKFZp434C1714 OTTHUMP00000199926;OTTHUMP00000199928 protein-coding HGNC:25257 15529 613220 VALIDATED 5684194 TMEM183AP1 transmembrane protein 183A pseudogene 1 6 6 p21.3 29545236 29545525 + 29577459 29577748 + 100048909 ABBA01038033;AL645936;AL662826;AMYH02013412;BX000688;BX927223;CR759766;CR759770;CR788300;NG_031894 pseudo HGNC:33458 INFERRED 1604752 TMEM182 transmembrane protein 182 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cyclosporin A; methyl methanesulfonate; 17beta-estradiol (ortholog) 2 2 2 q12.1 97579654 97635286 + 103378490 103450948 + 102762015 102843838 + 6480464;8554872 12477932;12975309;14702039;23382691 130827 B8ZZ71;C9IYX5;Q6ZP80 ABBA01073894;AC007251;AK054856;AK129862;AL832688;AMYH02004441;AY358262;BC020898;BC073844;BC107694;BC130306;BC130308;CH471127;CR936731;CR936732;CR936735;NM_144632;XM_006712287;XM_006712288;XR_427070 AAH20898;AAH73844;AAI07695;AAI30307;AAI30309;AAQ88629;AAY14911;ADR82867;BAB70815;BAC85244;EAX01785;EAX01786;NP_653233;Q6ZP80;XP_006712350;XP_006712351 Hs.436203 1655362;1663892;1689055;1710060;1734772 D2S1551E;RH68730;RH69444;RH94134;SHGC-82307 DKFZp779G1758;DKFZp779K1556;DKFZp779M1870;FLJ30294 OTTHUMP00000161339;OTTHUMP00000203111 protein-coding ENSG00000170417 HGNC:26391 08698 VALIDATED 1603256 TMEM184A transmembrane protein 184A INVOLVED IN germ-line sex determination (inferred); regulation of protein localization (inferred); regulation of secretion (inferred); FOUND IN early endosome membrane (inferred); integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); benzo[a]pyrene (ortholog) 7 7 7 p22.3 1549127 1563240 - 1581871 1596066 - 1542235 1556430 - 6480464 12477932;12690205;14702039;16344560;21988832;8889548 202915 B7WNT3;C9J4I0;C9JDD9;C9JKG9;F8W8F1;F8WEG1;Q6ZMB5 ABBA01039346;AC093734;AK075043;AK096790;AK096817;AK126312;AK172850;AK313249;AMYH02015056;BC026694;BM981655;CH236953;CH471144;DB215831;NM_001097620;XM_006715653;XM_006715654;XM_006715655 AAH26694;BAC86522;BAD18814;EAW87210;EAW87211;NP_001091089;Q6ZMB5;XP_006715716;XP_006715717;XP_006715718 Hs.592174;Hs.707784 1769953;2175837 A007E29;RH78695 FLJ24011;MGC9712 OTTHUMP00000147559;OTTHUMP00000200045 protein-coding ENSG00000164855 HGNC:28797 14716 VALIDATED 1320480 TMEM183A transmembrane protein 183A ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog); benzo[a]pyrene (ortholog) 1 1 1 q32.1 176105772 176122430 + 202976520 202993976 + 203007392 203024848 + 6480464;8554872 12477932;15489334;16644869;17207965;17613536;19536175;21832049;21906983;21963094;8619474;9110174 92703 Q8IXX5 ABBA01027487;AC096632;AF070537;AK291426;AK309745;AK312985;AL133052;AMYH02002508;BC013073;BC038952;BC067775;BC150647;CH471067;NM_138391;XM_005245612;XR_241106 AAH13073;AAH38952;AAH67775;AAI50648;ADQ32724;BAF84115;BAG35822;EAW91456;EAW91457;EAW91458;NP_612400;Q8IXX5;XP_005245669 Hs.497443 1735586;1785596;2115150;2152217;2170505 D1S1879E;RH66529;RH69448;SHGC-155248;SHGC-76164 C1orf37 OTTHUMP00000039000;chromosome 1 open reading frame 37 protein-coding ENSG00000163444 HGNC:20173 12727 VALIDATED 1350892 TMEM181 transmembrane protein 181 The TMEM181 gene encodes a putative G protein-coupled receptor expressed on the cell surface (Carette et al., 2009 [PubMed 19965467]; Wollscheid et al., 2009 [PubMed 19349973]).[supplied by OMIM, Jan 2010] 6 6 6 q25.3 159605468 159704461 + 158957468 159056467 + 158536436 158635435 + 1580863;6480464 10718198;12477932;14574404;15790807;16452613;17081983;18187620;19349973;19965467 57583 Q9P2C4 AB037844;ABBA01021087;ABBA01021088;AJ420476;AJ420523;AL359569;AL590242;AL591025;AMYH02014851;AMYH02014852;AY927471;AY927472;BC033450;BC044210;BC046100;BC058328;BC067769;BC092402;BC108681;NM_020823;XM_005267074;XM_005267075;XM_006715531 AAH33450;BAA92661;NP_065874;Q9P2C4;XP_005267131;XP_005267132;XP_006715594 Hs.99145 1663964;1668427;1682874;1721407;1853956;2173918;2181575;5014051 D8S2278;G59555;HUM000S407;RH12655;RH37423;RH46845;RH92386;SHGC-31686 GPR178;KIAA1423 G protein-coupled receptor 178;OTTHUMP00000017504 APPROVED protein-coding ENSG00000146433 HGNC:20958 613209 VALIDATED 1315295 TMEM184B transmembrane protein 184B FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',5-triiodo-L-thyronine; 5-fluorouracil 22 22 22 q12 22420001 22473764 - 38612415 38669040 - 38216597 38273034 - 6480464 10591208;12477932;12761501;14702039;15461802;15489334;16303743;17081983;23000965;24250222 25829 B0QY30;F2Z397;F8WCD4;Q9Y519 AB097053;ABBA01055509;AK075417;AK095109;AK292652;AK309071;AL020993;AL021977;AL096879;AL117649;AMYH02038355;BC012983;BC015489;BE243327;BI197128;BQ004586;BX648345;CH471095;CR456413;CR627445;CR749859;KF511461;NM_001195071;NM_001195072;NM_012264;XM_005261509;XM_005261510;XM_005261511;XM_005261512;XM_005261513;XM_005261514;XM_006724227 AAH15489;BAC11607;BAC77406;BAF85341;CAB51403;CAG30299;CAH10529;CAH56159;CAK54404;CAK54703;EAW60222;EAW60223;EAW60224;EAW60225;EAW60226;NP_001182000;NP_001182001;NP_036396;Q9Y519;XP_005261566;XP_005261567;XP_005261568;XP_005261569;XP_005261570;XP_005261571;XP_006724290 Hs.182626 1673027;1735058 D22S992E;HSC0YA072 C22orf5;DKFZp586A1024;DKFZp686F07174;DKFZp686N1150;FM08;HS5O6A OTTHUMP00000028772;OTTHUMP00000082609;putative MAPK-activating protein FM08 protein-coding ENSG00000198792 HGNC:1310 12801 VALIDATED 1319594 TMEM180 transmembrane protein 180 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper atom; copper(0) 10 10 10 q24.32 97962082 97977703 + 104221149 104239546 + 102461386 102477045 + 737633;6480464;8554872 12477932 12975309;14702039;15164054;15489334;19322201;21832049;21906983;23535732;24250222 79847 B4DKJ1;B4DWN6;Q14CX5;Q6UWF4 ABBA01063154;AK026182;AK296583;AK301612;AL121928;AMYH02023697;AY358808;BC057787;BC067530;BC067531;BC113589;BG830198;CH471066;NM_024789;XM_006717971;XM_006717972;XM_006717973;XM_006717974 AAH57787;AAH67530;AAH67531;AAI13590;AAQ89168;ADR83056;BAB15385;BAG59203;BAG63098;EAW49689;NP_079065;Q14CX5;XP_006718034;XP_006718035;XP_006718036;XP_006718037 Hs.309069 1671725;1744313;5037552 D8S2279;GDB:451658;WI-15962 C10orf77;FLJ22529;RP11-18I14.8;bA18I14.8 chromosome 10 open reading frame 77 protein-coding ENSG00000138111 HGNC:26196 12589 VALIDATED 1604123 TMEM183B transmembrane protein 183B This locus was thought to represent a pseudogene of chromosome 1 open reading frame 37 because it is intronless and retains a polyA tail at the 3' end. It does however contain a complete open reading frame that subsequent research has demonstrated to be transcribed in a limited number of human tissues. The encoded protein may represent a transmembrane protein associated with cell membranes and be involved in cell-cell or cell-environment interactions. [provided by RefSeq, Jul 2010] 3 3 3 q25.1 148112809 148114514 - 149699448 149701153 - 149981661 149983366 - 16644869;21906983;21963094 653659 Q1AE95 ABBA01058936;AC117395;AK297222;AMYH02007887;CH471052;DQ186292;DQ186293;DQ186294;DQ186295;DQ186296;DQ186297;DQ186298;DQ186299;DQ186300;DQ186301;DQ186302;DQ186303;DQ186304;DQ186305;DQ186306;DQ186307;DQ186308;DQ186309;DQ186310;DQ186311;DQ186312;DQ186313;DQ186314;DQ186315;DQ186316;DQ186317;DQ186318;DQ186319;DQ186320;DQ186321;DQ186322;DQ186323;DQ186324;DQ186325;DQ186326;DQ186327;DQ186328;DQ186329;DQ186330;DQ186331;DQ186332;DQ186333;DQ186334;DQ186335;DQ186336;DQ186337;DQ186338;DQ186339;DQ186340;DQ186341;DQ186342;DQ186343;DQ186344;DQ186345;DQ186346;DQ186347;DQ186348;DQ186349;DQ186350;DQ186351;DQ186352;DQ186353;DQ186354;DQ186355;DQ186356;DQ186357;DQ186358;DQ186359;DQ186360;DQ186361;DQ186362;DQ186363;DQ186364;DQ186365;DQ186366;DQ186367;DQ186368;DQ186369;DQ186370;DQ186371;DQ186372;DQ186373;DQ186374;DQ186375;DQ186376;DQ186377;DQ186378;DQ186379;DQ186380;DQ186381;DQ186382;DQ186383;DQ186384;DQ186385;DQ186386;DQ186387;DQ186388;DQ186389;DQ186390;DQ186391;DQ186392;DQ186393;DQ186394;DQ186395;DQ186396;DQ186397;DQ186398;DQ186399;DQ186400;DQ186401;DQ186402;DQ186403;DQ186404;DQ186405;DQ186406;DQ186407;DQ186408;DQ186409;DQ186410;DQ186411;DQ186412;DQ186413;NM_001079809 ABA18877;ABA18878;ABA18879;ABA18880;ABA18881;ABA18882;ABA18883;ABA18884;ABA18885;ABA18886;ABA18887;ABA18888;ABA18889;ABA18890;ABA18891;ABA18892;ABA18893;ABA18894;ABA18895;ABA18896;ABA18897;ABA18898;ABA18899;ABA18900;ABA18901;ABA18902;ABA18903;ABA18904;ABA18905;ABA18906;ABA18907;ABA18908;ABA18909;ABA18910;ABA18911;ABA18912;ABA18913;ABA18914;ABA18915;ABA18916;ABA18917;ABA18918;ABA18919;ABA18920;ABA18921;ABA18922;ABA18923;ABA18924;ABA18925;ABA18926;ABA18927;ABA18928;ABA18929;ABA18930;ABA18931;ABA18932;ABA18933;ABA18934;ABA18935;ABA18936;ABA18937;ABA18938;ABA18939;ABA18940;ABA18941;ABA18942;ABA18943;ABA18944;ABA18945;ABA18946;ABA18947;ABA18948;ABA18949;ABA18950;ABA18951;ABA18952;ABA18953;ABA18954;ABA18955;ABA18956;ABA18957;ABA18958;ABA18959;ABA18960;ABA18961;ABA18962;ABA18963;ABA18964;ABA18965;ABA18966;ABA18967;ABA18968;ABA18969;ABA18970;ABA18971;ABA18972;ABA18973;ABA18974;ABA18975;ABA18976;ABA18977;ABA18978;ABA18979;ABA18980;ABA18981;ABA18982;ABA18983;ABA18984;ABA18985;ABA18986;ABA18987;ABA18988;ABA18989;ABA18990;ABA18991;ABA18992;ABA18993;ABA18994;ABA18995;ABA18996;ABA18997;ABA18998;BAG59705;EAW78847;NP_001073277;Q1AE95 Hs.652908 1785596;1790207;2115150 BF397521;RH66529;SHGC-155248 C1orf37-DUP APPROVED protein-coding HGNC:33205 611365 VALIDATED 1349593 TMEM184C transmembrane protein 184C FOUND IN integral component of membrane (inferred); INTERACTS WITH disodium selenite; formaldehyde; hydrogen peroxide 4 4 4 q31.23 145859644 145877781 + 148538539 148556674 + 147617388 147635523 + 737633;6480464 12477932 11483580;14702039;16344560;17072649;21988832;8889548 55751 H0Y8I5;Q9NVA4 ABBA01070059;AC093835;AF305823;AK000169;AK001708;AMYH02010275;BC008120;BC046128;BM712423;CH471056;DA018837;NM_018241 AAH08120;AAH46128;AAK55526;BAA90988;BAA91851;EAX05015;EAX05016;NP_060711;Q9NVA4 Hs.203896 1649738;2144689;5022578 D1S1423;SHGC-32275;SHGC-59787 FLJ10846;TMEM34 OTTHUMP00000220094;OTTHUMP00000220096;transmembrane protein 34 protein-coding HGNC:25587 07702 613937 VALIDATED 1625808 TMEM185AP1 transmembrane protein 185A pseudogene 1 X X q28 148850544 148854484 + 149768883 149772826 + 100506205 AC016939;AC232272;AC244098;NG_029343 1671528;2140637;2169432 A006O30;RH15882;WI-12227 FAM11C;TMEM185AL family with sequence similarity 11, member C;transmembrane protein 185A-like APPROVED pseudo HGNC:31717 INFERRED 1345380 TMEM185B transmembrane protein 185B FOUND IN integral component of membrane (inferred); INTERACTS WITH (S)-colchicine; adenine; aflatoxin B1 2 2 2 q14.2 114305701 114307831 - 120975047 120980984 - 120217471 120223408 - 1580863;6480464 12404111;12477932;14702039;15489334;15525354;21139048;23000965 79134 Q9H7F4 ABBA01045915;AC012363;AF530474;AK021716;AK024632;AK090980;AMYH02004660;BC016849;BC068087;BC080607;NM_024121 AAY14799;NP_077026;Q9H7F4 Hs.376722 1655306;2120976;5022623 D11S2687;D2S2885;RH12252 FAM11B;FLJ11654;FLJ20979;FLJ33661;ee3_2 family with sequence similarity 11, member B;putative transmembrane protein 185B;transmembrane protein 185B (pseudogene) APPROVED protein-coding HGNC:18896 VALIDATED 1604027 TMEM186 transmembrane protein 186 This gene encodes a potential transmembrane protein. [provided by RefSeq, Dec 2012] 16 16 16 p13.2 9058430 9060897 - 8889037 8891505 - 8795180 8797648 - 6480464 11230166;11256614;12477932;14702039;20877624;21890473;8125298 25880 Q96B77 ABBA01019730;AC012173;AK093383;AK225638;AK314404;AL080088;AMYH02031408;BC015912;BG682191;CA433910;CH471112;NG_009209;NG_033146;NM_015421 AAH15912;BAG37027;CAB45703;EAW85205;EAW85206;NP_056236;Q96B77 Hs.513330 1721435;2167309;2179218 G59569;RH48187;RH48235 C16orf51;DKFZp564K2062 OTTHUMP00000160108 protein-coding ENSG00000184857 HGNC:24530 08527 VALIDATED 1603241 TMEM189-UBE2V1 TMEM189-UBE2V1 readthrough The TMEM189-UEV mRNA is an infrequent but naturally occurring read-through transcript of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein produced by this transcript has UEV1 B domains but the protein is localized to the cytoplasm rather than to the nucleus. The significance of this read-through mRNA and the function of its protein product has not yet been determined. [provided by RefSeq, Oct 2010] 20 20 20 q13.2 45402229 45474884 - 48697661 48770335 - 50081124 50153798 - 6480464 10089880;11057907;11076848;11076860;14702039;16236267;19322201;20677014;20967262;8889548;9305758;9418904;9705497;9771976 387522 A5PLL7;G3V2F7;Q13404 ABBA01052772;ABBA01052773;AMYH02037228;AMYH02037229;BF982644;BG723381;BI838424;BM556348;BQ010001;BQ223768;BU156219;BU619725;BU860198;CF145300;CR738799;KF456937;NM_199203;U39361 AAB72016;AAI72339;NP_954673 Hs.744839 1687481;1773904;1791702;1791704;2110483;2122247;2127468;2156953;2184323;5024411;5106423;5117202;5126825;5126827 D20S551E;D2S1964;G26465;GDB:451742;HSC0RC102;Kua__7422;PMC121525P1;PMC121525P2;PMC121525P3;PMC121525P4;RH11748;RH63738;RH92983;SHGC-173 CROC-1B;CROC1B;KUA-UEV;UBE2V1 OTTHUMP00000031797;TMEM189-UBE2V1 fusion protein;TMEM189-UBE2V1 readthrough transcript;transmembrane protein 189-ubiquitin-conjugating enzyme E2 variant 1 read-through;ubiquitin-conjugating enzyme E2 variant 1 APPROVED protein-coding ENSG00000124208 HGNC:33521 04294;11926 REVIEWED 1354491 TMEM187 transmembrane protein 187 This gene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding the same protein has been found, but its biological validity is not determined. [provided by RefSeq, May 2010] X X X q28 153471703 153482353 + 153237991 153248646 + 153972540 153983195 + 6480464;8554872 11256614;12477932;15489334;17567994;24250222;8661027;8786131 8269 C9JIP7;C9JV55;Q14656 ABBA01045327;AI355489;AK314938;AMYH02040851;AMYH02040852;BC008203;BC017026;CH471172;CQ834240;CR457047;DQ655925;HI574288;NG_021222;NM_003492;U52112;X92475 AAH08203;AAH17026;BAG37444;CAA63213;CAG33328;CAH05335;CBX47633;EAW72766;NP_003483;Q14656 Hs.23119 1798770;1800650;1802182;1804196;1813166;1815734;1845780;2034734;2034736;2034738;2034740;2034742;2034744;2034746;2034748;2034750;2034752;2034754;2034756;2034758;2034760;2034762;2034764;2034766;2034768;2034770;2034772;2034774;2034776;2034778;2034780;2034782;2034784;2034786;2034788;2034790;2034792;2034794;2034796;2034798;2034800;2034802;2034804;2034806;2034808;2034810;2034812;2102180;2102182;2102184;2102186;2122836;2168949 DXS6989E;ECD00225;ECD01186;ECD01973;ECD03018;ECD07602;ECD08905;ECD24109;REN88376;REN88377;REN88378;REN88379;REN88380;REN88381;REN88382;REN88383;REN88384;REN88385;REN88386;REN88387;REN88388;REN88389;REN88390;REN88391;REN88392;REN88393;REN88394;REN88395;REN88396;REN88397;REN88398;REN88399;REN88400;REN88401;REN88402;REN88403;REN88404;REN88405;REN88406;REN88407;REN88408;REN88409;REN88410;REN88411;REN88412;REN88413;REN88414;REN88415;STS-X92475;stSG603736;stSG603737;stSG603739;stSG603740 CXorf12;DXS9878E;FLJ95849;ITBA1 OTTHUMP00000025991;OTTHUMP00000081767;OTTHUMP00000174622;chromosome x open reading frame 12 APPROVED protein-coding ENSG00000177854 HGNC:13705 02086 300059 REVIEWED 1604743 TMEM190 transmembrane protein 190 ENCODES a protein that exhibits protein self-association (inferred); INVOLVED IN hematopoietic progenitor cell differentiation (inferred); FOUND IN nucleus; INTERACTS WITH aflatoxin B1; bisphenol A 19 19 19 q13.42 52929027 52930435 + 55888204 55889612 + 55376836 55378244 + 6480464 12477932;21273369 147744 Q8WZ59 ABBA01068100;AC020922;AF442729;AMYH02036462;BC128189;BC128190;CH471135;NM_139172 AAI28190;AAI28191;AAL35294;EAW72372;NP_631911;Q8WZ59 Hs.590943 MDAC1;MGC149301;MGC149302 protein-coding ENSG00000160472 HGNC:29632 14373 PROVISIONAL 1351529 TMEM19 transmembrane protein 19 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 12 12 12 q21.1 71742079 71760004 + 72079878 72097840 + 71686098 71704060 + 737633;6480464 12477932 14702039;16189514;19322201;24250222 55266 F8VRE8;F8VS20;H0YHY1;H0YIS8;Q96HH6 ABBA01026511;AC073612;AK001798;AK025839;AK223148;AK315587;AMYH02026738;AMYH02026739;AMYH02026740;BC008596;CH471054;NM_018279 AAH08596;BAA91918;BAD96868;BAG37959;EAW97266;EAW97267;EAW97268;EAW97269;NP_060749;Q96HH6 Hs.644802 1775048;5015961;5022425;5037552 D15S1477;D22S296;D8S2279;RH48011 FLJ10936 OTTHUMP00000241538;OTTHUMP00000241539;OTTHUMP00000241541 protein-coding ENSG00000139291 HGNC:25605 15530 VALIDATED 2303481 TMEM191A transmembrane protein 191A (pseudogene) FOUND IN integral component of membrane (inferred); INTERACTS WITH biochanin A; copper(2+) sulfate; hydrogen peroxide 22 22 22 q11.21 5433908 5435045 + 21055402 21058891 + 20701114 20704603 + 6480464 11181995;11230166;12477932;15461802 84222 Q9H0A3 ABBA01015447;AC007050;AK313335;AL136879;AMYH02038078;BC126323;BC126325;CH878607;CH891377;CR456359;NR_026815 BAG36139;CAB66813;CAG30245;EAW50622;EAW50623;EAW50624;EAW50625;EAW50626;EAW50627;EAW50847;Q9H0A3 Hs.546454 DKFZp434G1017;DKFZp434N035;MGC161601;MGC161603;TMEM191AP APPROVED pseudo ENSG00000226287 HGNC:25317 13197 PREDICTED 1641967 TMEM191B transmembrane protein 191B FOUND IN integral component of membrane (inferred); INTERACTS WITH cyclosporin A (ortholog); dibutyl phthalate (ortholog); pentachlorophenol (ortholog) 22 22 22 q11.21 5497133 5500149 - 20377669 20380440 + 18527802 18530573 + 6480464 10591208;14702039;24250222 728229 P0C7N4 AC023490;AK093171;AMYH02038059;NM_001242313 NP_001229242;P0C7N4 Hs.376511 5113162 RH99253 AC023490.1 protein-coding ENSG00000278558 HGNC:33600 VALIDATED 1641960 TMEM191C transmembrane protein 191C FOUND IN integral component of membrane (inferred); INTERACTS WITH cyclosporin A (ortholog); dibutyl phthalate (ortholog); pentachlorophenol (ortholog) 22 22 22 q11.21 5497354 5500149 - 21821459 21824224 + 21467170 21469935 + 6480464 14702039;16344560 645426 A6NGB0 ABBA01001222;ABBA01001223;AK094309;AK094490;AK308704;AL041322;AMYH02038099;AP000557;BI827697;BQ928994;DB167488;HG512054;HG512055;HG512057;HG512058;HG512060;HG512061;HG512062;HG512063;HG512064;NM_001207052;XM_006726830 A6NGB0;NP_001193981;XP_006726893 Hs.376511;Hs.645547 5015404;5016478;5022578;5037552;5113162 D1S1423;D8S2279;GDB:434012;L17705;RH99253 AC023490.1;FLJ36990 KB-1323B2.6 protein-coding HGNC:33601 VALIDATED 1603242 TMEM189 transmembrane protein 189 Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 20 20 20 q13.2 45444831 45474884 - 48740274 48770335 - 50123737 50153798 - 6480464 11076848;11076860;11280764;12477932;14702039;16129784;19322201;20420830;21048031;21555518;21565611;21890473;21906983;22939629 387521 A5PLL7;F8W924;F8WBY2;G3V2F7;Q5TGE2 AB044550;ABBA01052773;AF155120;AK023028;AK304595;AL034423;AMYH02037229;BC018893;BC142966;BC144612;CH471077;CQ834902;NM_001162505;NM_199129;NR_027889 A5PLL7;AAF08702;AAI40090;AAI42967;AAI43092;BAB14364;BAB18652;BAG65381;CAH05666;EAW75633;NP_001155977;NP_954580 Hs.744839 1687481;2110483;2122247;2127468 D20S551E;Kua__7422;RH63738;RH92983 KUA;UBE2V1 OTTHUMP00000031794;OTTHUMP00000031798;ubiquitin-conjugating enzyme E2 variant 1 APPROVED protein-coding ENSG00000240849 HGNC:16735 17257 610994 REVIEWED 1602829 TMEM192 transmembrane protein 192 ENCODES a protein that exhibits protein homodimerization activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; late endosome; lysosomal membrane; INTERACTS WITH cyclosporin A; quercetin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 q32.3 163328647 163365196 - 165997230 166034024 - 165076078 165112872 - 6480464;8554872 12477932;14702039;17207965;18029348;20370317;21139048;21674799;21890473;21906983;22190034;22736246;23000965;7566098 201931 D6RAZ6;Q8IY95 AA346826;ABBA01070290;AC055120;AC108465;AK095801;AMYH02010438;AW137472;BC036301;BX538029;BX648915;CH471056;HH957993;HH957995;NM_001100389 AAH36301;ADQ31590;BAC04628;CAD97974;CBX51260;CBX51261;EAX04826;NP_001093859;Q8IY95 Hs.704511 2139834;2175287;5014051;5017227;5024516;5037552 D13S1568;D8S2278;D8S2279;G38154;SHGC-33189;SHGC-50355 FLJ38482 OTTHUMP00000219949;OTTHUMP00000219950 protein-coding HGNC:26775 08787 VALIDATED 1603697 TMEM194A transmembrane protein 194A FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid 12 12 12 q13.3 57103357 57126501 - 57449426 57472574 - 57055643 57078791 - 6480464 12168954;12477932;15489334;16344560;19322201;21906983;21963094;9179496 23306 G3V5K2;O14524 AB006624;ABBA01008447;ABBA01008448;AC023237;AC026120;AK294566;AL833310;AL833311;AMYH02026578;BC071597;BC117436;BC126300;BC144029;BQ001525;CH471054;CR749406;DA724501;DB123768;NM_001130963;NM_015257;XM_006719298 AAH71597;AAI17437;AAI26301;ADR82977;BAA22955;BAG57761;CAH18250;EAW96984;EAW96985;EAW96986;NP_001124435;NP_056072;O14524;XP_006719361 Hs.591040 1684429;2120098;2125769;2145758;2148912;5093928 A009Z07;G29264;G33006;RH65073;SHGC-32440;STS-H82851 DKFZp686N1768;KIAA0286;TMEM194 OTTHUMP00000244905;OTTHUMP00000244906;transmembrane protein 194 protein-coding ENSG00000166881 HGNC:29001 13793 VALIDATED 1606932 TMEM196 transmembrane protein 196 FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-) 7 7 7 p21.1 19743241 19796711 - 19758938 19812404 - 19719315 19772781 - 6480464 12477932;17903292 256130 B7WNR7;F8WE15;Q5HYL7 ABBA01056660;AC004543;AMYH02015326;AMYH02015327;BC030104;BX647256;BX648384;CH236948;CH471073;DN991960;NM_152774;XM_005249692 AAH30104;CAI46055;EAW93715;EAW93716;EAW93717;NP_689987;Q5HYL7;XP_005249749 Hs.487670 1687556;1789008 G65715;RH98553 DKFZp686H19205;DKFZp686K0753;MGC42090 OTTHUMP00000201820;OTTHUMP00000201844 protein-coding ENSG00000173452 HGNC:22431 14617 VALIDATED 2293905 TMEM194B transmembrane protein 194B FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; paracetamol; C60 fullerene (ortholog) 2 2 2 q32.2 184966557 184994411 - 191371619 191399468 - 190506893 190534742 - 6480464 11181995;15815621;21139048 100131211 A6NFY4;B4DYG6;C9J4F2;F8VWJ7;H7C232 ABBA01062386;AC093388;AK296987;AK302425;AMYH02005436;CH471058;NM_001142645;XM_005246212;XM_005246213 A6NFY4;BAG63728;BAH12468;EAX10866;NP_001136117;XP_005246269;XP_005246270 Hs.659824 1676868 RH93655 OTTHUMP00000205731;UPF0571 transmembrane protein protein-coding HGNC:33700 VALIDATED 1347995 TMEM185A transmembrane protein 185A The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013] X X X q28 149150389 149185619 + 148678216 148713487 - 149596556 149631912 - 1580863;6480464 12404111;12477932;12806492;14702039;15489334;15525354;16344560;18078840;20969748;7874164;7881407;8499907;8844091;8844097;9415475 84548 B7Z4G6;E5RFI9;E5RGV1;E7EMM1;H0YAP3;H0YBJ6;Q8NFB2;Q8TCB3 ABBA01049641;ABBA01049642;ABBA01049643;ABBA01049644;ABBA01049645;ABBA01049646;AC016940;AC231844;AC233288;AC244197;AF353675;AF530473;AK096308;AK097391;AK128688;AK297335;BC013793;BC022405;BC103820;BC103821;BC103822;BG721461;BJ989805;BQ224383;CH471169;DA206736;L35600;NG_016831;NM_001174092;NM_001282302;NM_032508;NR_104121;XM_006724850;XM_006724851;XM_006724852 AAH13793;AAH22405;AAI03821;AAI03822;AAI03823;AAK39521;AAM94598;BAC05031;BAG53255;BAG54711;BAH12552;EAW99367;EAW99368;EAW99369;NP_001167563;NP_001269231;NP_115897;Q8NFB2;XP_006724913;XP_006724914;XP_006724915 Hs.522172 1671528;2140637;2169432;5017913 A006O30;RH15882;TMEM185A;WI-12227 CXorf13;FAM11A;FRAXF;MGC118844;MGC118845;ee3 OTTHUMP00000216443;OTTHUMP00000226744;family with sequence similarity 11, member A;fragile site, folic acid type, rare, fra(X)(q28) F APPROVED protein-coding ENSG00000269556 HGNC:17125 06504 300031 REVIEWED 5684100 TMEM198B transmembrane protein 198B, pseudogene INTERACTS WITH (+)-catechin; pentachlorophenol (ortholog) 12 12 q13.2 56223392 56230030 + 55829608 55836246 + 6480464 12477932;12975309;14702039 440104 Q71RD9 ABBA01008390;AC023055;AF370398;AK057179;AK094261;AK095340;AMYH02026553;AW139988;AY358778;BC072431;BX648969;CH471054;NR_036476;NR_036477;NR_036478;NR_036479 AAQ15234;AAQ89138;BAG53031;EAW96842 Hs.731828 1672887;1677052;1719687;1767682;2177276 A005E01;D12S2129;RH123532;RH80350;WI-20946 pseudo ENSG00000182796 HGNC:43629 VALIDATED 1605296 TMEM198 transmembrane protein 198 INVOLVED IN positive regulation of canonical Wnt signaling pathway; FOUND IN cytoplasmic membrane-bounded vesicle; plasma membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 2 2 2 q35 214178708 214185280 + 220408385 220415317 + 219543933 219550595 + 6480464 12477932;17207965;21536646 130612 C9JFY7;C9JXI5;Q66K66 ABBA01023840;AC009955;AK123175;AK302369;AMYH02005823;BC068567;BC080573;CH471063;NM_001005209;XM_006712284 AAH80573;ADQ32004;BAG53876;BAG63691;EAW70771;EAW70772;EAW70773;NP_001005209;Q66K66;XP_006712347 Hs.446664 1803100;1803172;1805038;1814976;1821248;1822346;1822568;1824230;1831668;1843444;1964824;1964826;1964828;1964830;1964832;1964834;1964836;1964838;1964840;1964842;1964844;1964846;1964848;1964850;1964852;1964854;1964856;1964858;1964860;1964862;1964864;1964866;1964868;1964870;1964872;1964874;1964876;1964878;1964880;1964882;1964884;1964886;1964888;1964890;1964892;1964894;1964896;1964898;1964900;1964902;2214050;2214052;2214054;2214056 ECD02441;ECD02477;ECD03460;ECD08519;ECD11701;ECD12261;ECD12372;ECD13212;ECD16971;ECD22931;REN53286;REN53287;REN53288;REN53289;REN53290;REN53291;REN53292;REN53293;REN53294;REN53295;REN53296;REN53297;REN53298;REN53299;REN53300;REN53301;REN53302;REN53303;REN53304;REN53305;REN53306;REN53307;REN53308;REN53309;REN53310;REN53311;REN53312;REN53313;REN53314;REN53315;REN53316;REN53317;REN53318;REN53319;REN53320;REN53321;REN53322;REN53323;REN53324;REN53325;stSG633080;stSG633081;stSG633082;stSG633083 FLJ41180;MGC99813;TMEM198A OTTHUMP00000065224;OTTHUMP00000065225 protein-coding ENSG00000188760 HGNC:33704 14718 PROVISIONAL 1348837 TMEM199 transmembrane protein 199 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; disodium selenite 17 17 17 q11.2 23546441 23550846 + 26684687 26689089 + 28357664 28362067 + 6480464 12477932;15489334;21906983 147007 J3KRW7;J3KS81;K7EJL8;Q8N511 ABBA01015060;AC002094;AK223584;AK291475;AK311363;AMYH02033222;AY074907;BC033113;CH471159;KF573651;NM_152464 AAH33113;AAO12163;BAD97304;BAF84164;EAW51079;EAW51080;NP_689677;Q8N511 Hs.707906 1650548;1680060;1754397;2175174 Cda01c02;D17S1555;SHGC-132409;SHGC-30273 C17orf32;MGC45714 OTTHUMP00000163320;OTTHUMP00000219928 protein-coding HGNC:18085 12679 PROVISIONAL 1345256 TMEM200A transmembrane protein 200A ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 6 6 6 q23.1 131504667 131510617 + 130687426 130764569 + 130366281 130443424 + 737633;6480464;8554872 12477932 11572484;15722956;16344560 114801 A8K2A1;Q86VY9 AB052099;AB067500;ABBA01025900;AK290166;AK294359;AK315824;AL121947;AL137185;AL137251;AL450330;AMYH02014479;AMYH02014480;BC044246;CH471051;DA164344;DA657363;JA738675;NM_001258276;NM_001258277;NM_001258278;NM_052913;XM_005266816;XM_005266817 AAH44246;BAB67806;BAD05135;BAF82855;BAF98715;BAG57623;CCF76990;EAW48068;NP_001245205;NP_001245206;NP_001245207;NP_443145;Q86VY9;XP_005266873;XP_005266874 Hs.591341 1651131;1761109;1778189 RH46234;SHGC-145116;SHGC-56517 KIAA1913;TTMA;TTMC found in a patient with schizophrenia;two transmembrane C protein-coding ENSG00000164484 HGNC:21075 13901 VALIDATED 1606080 TMEM200B transmembrane protein 200B FOUND IN integral component of membrane (inferred); INTERACTS WITH trichostatin A; valproic acid; orphenadrine (ortholog) 1 1 1 p35 27842086 27846565 - 29445937 29450421 - 29119425 29123909 - 6480464 12477932;15722956 399474 Q69YZ2 ABBA01035075;AI367819;AL110282;AL357500;AMYH02000645;BC033289;BC064375;BC064538;BC082989;BC110336;NM_001003682;NM_001171868 AAH64375;AAH64538;AAH82989;AAI10337;CAH10727;NP_001003682;NP_001165339;Q69YZ2 Hs.712722 1653440;1682133;1701678;1852401;2108061 D1S3570;EPB41__7595;G34848;RH104511;RH98235 MGC102864;MGC90489;TTMB OTTHUMP00000225038;OTTHUMP00000225039;transmembrane protein TTMA;two transmembrane B;two transmembrane domain-containing family member B protein-coding ENSG00000253304 HGNC:33785 13188 VALIDATED 1317427 TMEM2 transmembrane protein 2 INVOLVED IN multicellular organismal development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 9 9 9 q21.13 44870266 44956591 - 74298282 74384373 - 71683366 71769456 - 6480464;8554872 10718198;10767548;12477932;14702039;16344560;19056867;19322201;20379614;21139048;22268729;22610944;23000965 23670 B4E1B9;F5GZC1;F5H6B2;H3BLX9;H3BLY0;Q9UHN6 AB037833;ABBA01033838;ABBA01033839;ABBA01033840;ABBA01033841;AF137030;AK027818;AK075370;AK300405;AK303765;AL161732;AL671309;AMYH02020966;AMYH02020967;BC044850;BC140773;BC144510;BC146780;BC171782;CA418327;CH471089;CR990222;DA865249;NM_001135820;NM_013390;XM_005251869;XM_006717033 AAF21348;AAI40774;AAI46781;BAA92650;BAC11574;BAG51381;BAG62135;BAG64731;EAW62517;EAW62518;EAW62519;EAW62520;NP_001129292;NP_037522;Q9UHN6;XP_005251926;XP_006717096 Hs.494146 1649054;1669674;1678297;1704044;1761311;1769445;1778060;1787080;2146965;2179739 G20809;RH16236;RH17266;RH46242;SHGC-145323;SHGC-154793;SHGC-34849;SHGC-77847;STS-N30818;WIAF-2208 OTTHUMP00000021450;OTTHUMP00000239948 protein-coding ENSG00000135048 HGNC:11869 09317 605835 VALIDATED 2289768 TMEM202 transmembrane protein 202 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cadmium dichloride (ortholog); paracetamol (ortholog); potassium dichromate (ortholog) 15 15 15 q24.1 49576835 49586875 + 72690668 72700708 + 72398327 72408367 + 6480464;8554872 338949 A6NGA9;H3BUG9 ABBA01038728;AC009690;AC079322;AK131033;AMYH02030754;NM_001080462 A6NGA9;NP_001073931 Hs.446069 1690190;2122327 D15S791;RH92065 FLJ27523 protein-coding HGNC:33733 PROVISIONAL 1604210 TMEM201 transmembrane protein 201 ENCODES a protein that exhibits actin filament binding (inferred); lamin binding (inferred); INVOLVED IN fibroblast migration (inferred); nuclear migration (inferred); FOUND IN integral component of membrane (inferred); nuclear membrane (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; calcitriol 1 1 1 p36.22 8762143 8781135 + 9648932 9674935 + 9588874 9614877 + 6480464 12477932;16344560;19494128;21890473;22268729;22412018;24654937;24950247 199953 H0Y4R5;H0Y994;Q5SNT2 ABBA01035559;ABBA01035560;AI685174;AL954705;AMYH02000249;AMYH02000250;BC121187;BC137291;BE676679;BG828926;BX648377;DA603558;NM_001010866;NM_001130924;XM_006710417;XM_006710418;XR_244785 AAI21188;AAI37292;NP_001010866;NP_001124396;Q5SNT2;XP_006710480;XP_006710481 Hs.632365;Hs.706017 1732944;2126997;2147591 D1S1338;SHGC-74172;SHGC-74196 NET5;RP13-15M17.2 OTTHUMP00000063148;OTTHUMP00000063149;OTTHUMP00000063150;spindle-associated membrane protein 1 protein-coding ENSG00000188807 HGNC:33719 17991 VALIDATED 1605598 TMEM203 transmembrane protein 203 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; atrazine; copper(2+) sulfate 9 9 9 q34.3 110612756 110614312 - 140098534 140100090 - 137204082 137205638 - 6480464 12477932;19615732 94107 Q7Z4H1;Q969S6 ABBA01022748;AF529372;AL929554;AMYH02021926;AX775751;BC009283;BC009461;BC067786;CH471090;CS488888;NG_027801;NM_053045 AAH09283;AAH09461;AAH67786;AAQ09606;CAE11575;CAM55962;EAW88365;NP_444273;Q969S6 Hs.231029 2139111 RH18280 HBEBP1;MGC14327;MGC15961 HBeAg-binding protein 1;OTTHUMP00000206932 protein-coding ENSG00000187713 HGNC:28217 17496 VALIDATED 1350691 TMEM204 transmembrane protein 204 C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 1796505 1817517 + 1578742 1605581 + 1528741 1555580 + 6480464 11157797;12136098;12477932;12975309;14702039;15206924;15489334 79652 Q9BSN7 ABBA01030303;AE006467;AJ323237;AK024551;AL031719;AMYH02031233;AY358178;AY676494;BC004932;BC020425;BC105785;BQ182532;CH471112;NG_032783;NM_001256541;NM_024600 AAH04932;AAI05786;AAK61286;AAQ88545;AAT78423;ADZ15831;BAB14926;EAW85645;EAW85646;NP_001243470;NP_078876;Q9BSN7 Hs.459652 C16orf30;CLP24;FLJ20898;MGC111564 chromosome 16 open reading frame 30;claudin-like protein 24 APPROVED protein-coding ENSG00000131634 HGNC:14158 611002 VALIDATED 1605798 TMEM205 transmembrane protein 205 FOUND IN extracellular vesicular exosome; INTERACTS WITH cisplatin; disodium selenite; phenobarbital 19 19 19 p13.2 11348326 11351855 - 11453452 11457065 - 11342776 11346335 - 6480464 12477932;12975309;17207965;20589834;21139048;21906983;21963094;24816145 374882 K7EJQ9;K7ELQ9;K7EM09;K7EMV9;K7EPR0;K7ER05;Q6UW68 ABBA01029860;AC024575;AK127147;AK291979;AMYH02035526;AY358949;BC008365;BC064948;BC071616;BC091472;BE889078;CH471106;NM_001145416;NM_033408;NM_198536;XM_005259898;XM_005259899;XM_005259900;XM_005259901;XM_005259902 AAH64948;AAH91472;AAQ89308;ADQ32606;BAC86852;BAF84668;EAW84191;EAW84192;EAW84193;EAW84194;EAW84195;EAW84196;EAW84197;NP_001138888;NP_212133;NP_940938;Q6UW68;XP_005259955;XP_005259956;XP_005259957;XP_005259958;XP_005259959 Hs.8036 1852682 STS-N25233 MGC110858;MGC3205;UNQ501 MBC3205 protein-coding ENSG00000105518 HGNC:29631 18605 613771 VALIDATED 1602436 TMEM207 transmembrane protein 207 FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine 3 3 3 q28 188576940 188598162 - 190146444 190167665 - 190428655 190449876 - 12477932;12975309;17207965;19322201;22226915;23824909 131920 Q6UWW9 ABBA01058328;AC009520;AMYH02008408;AY358607;BC071780;CH471052;NM_207316;XM_005247122 AAH71780;AAQ88970;ADQ32001;EAW78105;NP_997199;Q6UWW9;XP_005247179 Hs.335321 2218632 UNQ846__5021 UNQ846 OTTHUMP00000209497;SRSR846 protein-coding ENSG00000198398 HGNC:33705 15621 614786 PROVISIONAL 1602479 TMEM206 transmembrane protein 206 FOUND IN cell surface; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; cyclosporin A 1 1 1 q32.3 185763548 185813983 - 212537816 212588267 - 212364474 212414925 - 6480464 12477932;14702039;15489334;16710414;17207965;19581412;21906983;21963094;24250222 55248 B4DHQ5;Q9H813 ABBA01048175;ABBA01048176;ABBA01048177;AC092803;AK001736;AK024066;AK295224;AK297200;AL360091;AMYH02002641;AMYH02002642;BC006320;CH471100;CR457268;DC411913;KF459533;NM_001198862;NM_018252;XM_005273177;XM_006711431 AAH06320;ADQ32681;BAA91870;BAB14810;BAG58217;BAH12522;CAG33549;EAW93390;EAW93391;NP_001185791;NP_060722;Q9H813;XP_005273234;XP_006711494 Hs.445386 2129700;2137507 D1S2233;RH78888 C1orf75;FLJ10874;RP11-384C4.5 OTTHUMP00000034892 protein-coding ENSG00000065600 HGNC:25593 07707 VALIDATED 1605689 TMEM208 transmembrane protein 208 INVOLVED IN autophagy (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; atrazine 16 16 16 q22.1 51769250 51771416 + 67261006 67263182 + 67227103 67229279 + 6480464 11042152;12477932;23691174;24816145 29100 H3BMW4;J3KRY7;J3QRY9;Q9BTX3 ABBA01025432;AC040160;AF161519;AMYH02032227;BC003080;BC013412;BC021109;BF316569;BI838179;CH471092;NM_014187;XR_243404 AAF29134;AAH03080;AAH13412;AAH21109;ABM83497;ABM86572;ABM86712;EAW83105;EAW83106;EAW83107;EAW83108;NP_054906;Q9BTX3 Hs.433203 1679912;1680138;1690282;1697856 RH102455;RH79964;RH80137;RH91432 HSPC171 protein-coding ENSG00000168701 HGNC:25015 13710 VALIDATED 3302319 TMEM200C transmembrane protein 200C FOUND IN integral component of membrane (inferred); INTERACTS WITH methylmercury chloride 18 18 18 p11.31 5775689 5778074 - 5889411 5895373 - 5889412 5896145 - 6480464 15722956;16177791 645369 A6NKL6 ABBA01049884;ABBA01049885;AMYH02034249;AP005433;BK005124;NM_001080209;XM_005258130 A6NKL6;AAI69201;DAA05326;NP_001073678;XP_005258187 Hs.346566 1687706 RH98587 TTMA transmembrane protein TTMA;two transmembrane domain family member A;two transmembrane domain-containing family member A protein-coding ENSG00000206432 HGNC:37208 PROVISIONAL 2292188 TMEM210 transmembrane protein 210 FOUND IN integral component of membrane (inferred); INTERACTS WITH thioacetamide (ortholog); valproic acid (ortholog) 9 9 q34.3 140065319 140066496 - 137170928 137172046 - 6480464 15164053 100505993 A6NLX4;H3BNS5 ABBA01022747;AI208887;AL929554;AMYH02021925;DB459119;NM_001282477 A6NLX4;NP_001269406 Hs.512463 1681580 RH92573 FLJ90254 protein-coding HGNC:34059 VALIDATED 1605555 TMEM211 transmembrane protein 211 FOUND IN integral component of membrane (inferred) 22 22 22 q11.23 9135586 9139692 - 25331208 25335314 - 24935241 24939347 - 12477932;15461802;20379614 255349 Q6ICI0 ABBA01055160;AL050312;AMYH02038151;BC130647;BC130649;CH471095;CR456388;NM_001001663 AAI30648;AAI30650;ADR82809;CAG30274;EAW59682;NP_001001663;Q6ICI0 Hs.329040 MGC163519;MGC163521;bA9F11.1 OTTHUMP00000198495 protein-coding HGNC:33725 17327 PROVISIONAL 6481173 TMEM212-AS1 TMEM212 antisense RNA 1 q26.31 100874219 AC055714;DB444657;NR_046852 Hs.730556 APPROVED ncrna HGNC:41939 VALIDATED 6481075 TMEM212-IT1 TMEM212 intronic transcript 1 (non-protein coding) 100874359 AC055714 ncrna HGNC:41505 2300031 TMEM212 transmembrane protein 212 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; formaldehyde; 6-propyl-2-thiouracil (ortholog) 3 3 3 q26.31 169961011 169976978 + 171561139 171577108 + 171843349 171859318 + 6480464;8554872 14702039;16344560;16641997;20889312;21701570;22566498;22828495 389177 A6NML5;H7C098;H7C390 ABBA01058663;AC055714;AK026825;AMYH02008139;DB199311;NM_001164436 A6NML5;NP_001157908 Hs.642307 FLJ23172 OTTHUMP00000210768;OTTHUMP00000210842;OTTHUMP00000210899 protein-coding ENSG00000186329 HGNC:34295 VALIDATED 2293900 TMEM213 transmembrane protein 213 FOUND IN integral component of membrane (inferred); INTERACTS WITH silicon dioxide; benzo[a]pyrene (ortholog); C60 fullerene (ortholog) 7 7 7 q34 133220547 133228575 + 138482664 138490769 + 138797919 138806024 + 6480464 12477932;14702039;16344560 155006 A2RRL7 ABBA01001179;AC018663;AI672404;AK055760;AK055841;AMYH02016874;AW771283;BC058028;BC131697;CH236950;CH471070;DA626421;NM_001085429;XM_005250167 A2RRL7;AAI31698;EAL24042;EAW83898;NP_001078898;XP_005250224 Hs.567729 5037552;5118576 D11S3430;D8S2279 OTTHUMP00000211647;OTTHUMP00000225375 protein-coding ENSG00000214128 HGNC:27220 VALIDATED 1601903 TMEM215 transmembrane protein 215 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 p21.1 32714718 32720420 + 32783497 32789199 + 32783499 32789201 + 6480464;8554872 22658931;8889548 401498 Q68D42 ABBA01065075;AK125320;AL157884;AMYH02019413;BM681172;BX647550;CH471071;CR749589;NM_212558 BAC86126;CAH18388;CAH56136;EAW58538;EAW58539;NP_997723;Q68D42 Hs.522063 DKFZp686I2292;FLJ43330 OTTHUMP00000159909 protein-coding HGNC:33816 17393 VALIDATED 1602714 TMEM216 transmembrane protein 216 This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010] 11 11 11 q13.1 58495354 58501845 + 61159832 61166335 + 61392360 61398863 + 6480464;7240710;8554872;8699517 11042152;12477932;12908130;12917796;16169070;19322201;20036350;20301500;20301743;20512146;21068128;22282472;8889549;9758620 51259 J3QT25;Q9P0N5 AA022661;ABBA01003199;AF151078;AI434503;AK303687;AMYH02024878;AP003108;BC011010;BG759319;CH471076;CR457166;DN998400;NG_032976;NM_001173990;NM_001173991;NM_016499;XM_005274039 AAF36164;AAH11010;BAH14017;CAG33447;EAW73944;NP_001167461;NP_001167462;NP_057583;Q9P0N5;XP_005274096 Hs.26745 1336452;2129956;2141571;2167301;2167303;2168510;7183805;7186270 A004X06;A006Z26;D11S1313;D11S2319E;D11S906;D11S911;RH12213;WI-22101 CORS2;HSPC244;JBTS2;JBTSB;MGC13379;MKS2 Meckel syndrome, type 2;OTTHUMP00000238092;cerebello-oculo-renal syndrome 2 APPROVED protein-coding ENSG00000187049 HGNC:25018 14439 603194;608091;613277 REVIEWED 1606543 TMEM214 transmembrane protein 214 INVOLVED IN apoptotic process (inferred); FOUND IN cytoplasmic microtubule; INTERACTS WITH cyclosporin A; pirinixic acid; zinc atom 2 2 2 p23.3 27102121 27110909 + 27255774 27264565 + 27032906 27041697 + 6480464 12477932;14702039;15231747;21139048;21890473;21906983;21963094;22268729;23000965;23661706;24816145 54867 H7BZI0;H7C008;H7C085;H7C0H8;Q6NUQ4 AA460659;ABBA01045192;AC013472;AF289555;AK000261;AK074981;AK097001;AK097308;AK296575;AK297150;AK315359;AL833725;AL834157;AMYH02003470;BC002467;BC068479;CF994632;CH471053;CQ834796;NM_001083590;NM_017727;XM_005264381;XM_005264382;XM_005264383;XM_006712036;XR_244942;XR_426985 AAH02467;AAH68479;AAL55739;AAY14654;BAA91038;BAC11331;BAG37754;BAG53451;BAG59195;BAG59649;CAD38863;CAH05613;CAH10591;EAX00654;EAX00655;EAX00656;EAX00657;EAX00658;EAX00659;NP_001077059;NP_060197;Q6NUQ4;XP_005264438;XP_005264439;XP_005264440;XP_006712099 Hs.533934 1667870;1683134 RH98719;WI-11296 FLJ20254;FLJ39682 OTTHUMP00000200917;OTTHUMP00000200918;OTTHUMP00000200919 protein-coding ENSG00000119777 HGNC:25983 07887 VALIDATED 1343464 TMEM217 transmembrane protein 217 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene 6 6 6 p21.2 38735024 38780955 - 37179954 37225931 - 37212178 37258155 - 6480464;8554872 12477932;14574404;14702039;15489334;19204726;221468;23092984 221468 Q8N0U3;Q8N7C4 ABBA01038278;ABBA01038279;ABBA01038280;AK098666;AL353579;AMYH02013566;AW137001;AW188099;BC009625;BC026012;BC029657;BG285024;CH471081;DB458508;NM_001162900;NM_001286401;NM_145316;NR_104442;NR_104443 AAH26012;AAH29657;ADZ15849;BAC05371;EAX03936;EAX03937;NP_001156372;NP_001273330;NP_660359;Q8N7C4 Hs.520101 1668502;1694202;2161625;5020948;5109281 AL035195;D1S1425;G35510;RH36467;STS-AA004224 C6orf128;dJ355M6.2 OTTHUMP00000216625 protein-coding ENSG00000172738 HGNC:21238 12848 VALIDATED 1604542 TMEM219 transmembrane protein 219 INVOLVED IN apoptotic process (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH atrazine; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p11.2 72811353 72823536 - 29973351 29984373 + 29962030 29973052 + 6480464 12477932;20353938;24250222 124446 H3BML8;I3L2J7;I3L2P0;I3L4B3;Q86XT9;R4GNJ4 ABBA01013110;AC093512;AC120114;AC244166;BC017488;BC031217;BC050051;BF724791;BU857546;CF453990;CH471238;DB506492;FJ748884;NM_001083613;NM_194280;XM_005255123;XR_429673 AAH17488;AAH50051;ACQ72822;EAW79966;EAW79967;EAW79968;NP_001077082;NP_919256;Q86XT9;XP_005255180 Hs.460574 IGFBP-3R insulin-like growth factor binding protein-3 receptor;insulin-like growth factor-binding protein 3 receptor protein-coding ENSG00000149932 HGNC:25201 18546 VALIDATED 1604450 TMEM220 transmembrane protein 220 FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); indole-3-methanol (ortholog) 17 17 17 p13.1 10647493 10664502 - 10616631 10633646 - 10713322 10730329 - 6480464 12477932;24068947 388335 J3KSH5;J3KSZ3;J3QRF6;Q6QAJ8 ABBA01054979;AC002347;AK289624;AK295928;AMYH02032969;AY550194;BC127705;BC136838;BC136840;CH471108;EF126147;NM_001004313;XM_005256634 AAI27706;AAI36839;AAI36841;AAS57719;ABL75442;BAF82313;BAG58714;EAW89993;EAW89994;NP_001004313;Q6QAJ8;XP_005256691 Hs.462230 2152184 RH65113 protein-coding ENSG00000187824 HGNC:33757 17371 PROVISIONAL 2293899 TMEM218 transmembrane protein 218 FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q24.2 122126435 122133242 - 124964266 124981659 - 125094370 125111763 - 6480464 12477932;14702039;16344560 219854 A2RU14;B7ZM54;E9PI23;E9PL96;E9PQM6 AA459752;AA781367;ABBA01031248;AI680968;AK091324;AL833215;AMYH02025732;AMYH02025733;AP001007;BC132716;BC132718;BC144270;BC144276;BC144277;BE513148;BE974033;BI192743;BI547955;BI829527;BI856825;BM042315;BM928068;BQ223298;BQ225039;BQ420663;BQ653243;BQ681518;BU160644;BU598207;BU855096;BX094574;CH471065;CX870447;DA774499;DA899308;DB194956;NM_001080546;NM_001258238;NM_001258239;NM_001258240;NM_001258241;NM_001258242;NM_001258243;NM_001258244;NM_001258245;NM_001258246;NM_001258247;NR_047586;NR_047587;NR_047588;NR_047589;NR_047590;NR_047591;NR_047592;XM_006718779;XM_006718780;XM_006718781;XM_006718782;XM_006718783 A2RU14;AAI32717;AAI32719;AAI44271;AAI44277;AAI44278;ADR82806;EAW67624;EAW67625;NP_001074015;NP_001245167;NP_001245168;NP_001245169;NP_001245170;NP_001245171;NP_001245172;NP_001245173;NP_001245174;NP_001245175;NP_001245176;XP_006718842;XP_006718843;XP_006718844;XP_006718845;XP_006718846 Hs.731899;Hs.7626 1688612;1853832;2148967;2167533 RH105;RH69237;RH70500;RH99287 DKFZp667A247 OTTHUMP00000231404;OTTHUMP00000231405;OTTHUMP00000231410;OTTHUMP00000231413 protein-coding HGNC:27344 VALIDATED 7175174 TMEM220-AS1 TMEM220 antisense RNA 1 17 17 p13.1-p12 10633094 10718481 + 10729777 10815164 + 16344560 101101775 ABBA01054979;ABBA01054980;ABBA01054981;AC002347;AC015908;AMYH02032969;AMYH02032970;BQ694074;BQ694934;DA035282;DA190285;DA747858;DA867863;HG508670;HG508671;HG508673;HG508674;HG508675;HG508676;NR_073455;NR_073456;NR_073457;NR_073458 Hs.569782;Hs.627844 ncrna ENSG00000263400;ENSG00000263523 HGNC:44357 VALIDATED 1605919 TMEM209 transmembrane protein 209 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A 7 7 7 q32.2 124600320 124641097 - 129804555 129845338 - 130164715 130205498 - 6480464;8554872 12477932;12958361;14702039;14962666;16344560;19322201;21139048;21890473;21906983;21963094;22082156;22505724;22719065;23000965 84928 C9J5K4;C9JYX1;Q96SK2 ABBA01057592;AC087071;AI589217;AK027678;AK027709;AK074732;AMYH02016751;AMYH02016752;BC016721;BC045618;BC057784;BU177118;CH236950;CH471070;CS300556;DB021198;HY352956;NM_001301163;NM_032842;XM_005250655;XM_005250657 AAH45618;AAH57784;BAB55289;BAB55314;BAC11168;CAK32220;EAL24094;EAW83748;EAW83749;NP_001288092;NP_116231;Q96SK2;XP_005250712;XP_005250714 Hs.267245 1751949;1752741;2161554;5015861;5037552;7185938 D10S16;D8S2279;SGC32605;SHGC-105950;SHGC-106579 FLJ14803;NET31 OTTHUMP00000212341;OTTHUMP00000212344;OTTHUMP00000212345 protein-coding ENSG00000146842 HGNC:21898 07871 VALIDATED 2307389 TMEM221 transmembrane protein 221 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); naphthalene (ortholog); progesterone (ortholog) 19 19 19 p13.11 17448072 17461124 - 17546318 17559376 - 17435509 17448567 - 6480464 12477932;15057824;16368877 100130519 A6NGB7 ABBA01051200;ABBA01051201;ABBA01051202;AC010319;AMYH02035705;AMYH02035706;BC039402;BY797043;NM_001190844 A6NGB7;NP_001177773 Hs.436603 2165330 RH78467 Putative transmembrane protein ENSP00000342162 protein-coding ENSG00000188051 HGNC:21943 VALIDATED 3102903 TMEM229A transmembrane protein 229A ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN host cell nucleus (inferred); integral component of membrane (inferred); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; all-trans-retinoic acid 7 7 7 q31.32 118474746 118477299 - 123670970 123673523 - 124030916 124033469 - 6480464 12477932;12690205;8889548 730130 B2RXF0 AA065302;ABBA01057724;AC004690;AMYH02016684;BC157828;BU741231;CH236947;NM_001136002 AAI57829;B2RXF0;EAL24328;NP_001129474 Hs.450249 1652586 RH66118 MGC189723 OTTHUMP00000227882 protein-coding ENSG00000234224 HGNC:37279 VALIDATED 2303656 TMEM223 transmembrane protein 223 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; copper(2+) sulfate 11 11 11 q12.3 59886371 59888070 - 62557787 62559486 - 62790315 62792014 - 6480464 12477932;17567985;20877624;21139048;21890473;8889548 79064 A0PJW6;G5EA27;H0YCK4 ABBA01003246;AMYH02024899;AP001160;BC008643;BC020914;BC035565;BC042801;BC071957;BC094837;BC127679;BP872883;BU684551;CH471076;NM_001080501 A0PJW6;AAH08643;AAH20914;AAH42801;AAH94837;AAI27680;EAW74102;NP_001073970 Hs.530463 1774944;1847697;2129935;2174446;2174448 A002C37;G19937;RH46572;SHGC-31800;WI-19608 MGC3196 OTTHUMP00000236504 protein-coding HGNC:28464 VALIDATED 1604776 TMEM222 transmembrane protein 222 FOUND IN integral component of membrane (inferred); INTERACTS WITH (S)-nicotine; 5-aza-2'-deoxycytidine; benzo[a]pyrene diol epoxide I 1 1 1 p36.11 26045825 26060080 + 27648636 27662891 + 27322145 27336400 + 6480464 11230166;12477932;14667819;14702039;15342556;15489334;16169070;16710414;21906983;21963094;8125298 84065 H0Y861;H0Y870;H0Y8D0;H7C4N1;H7C5C5;Q5SSC2;Q8TDQ4;Q9H0R3 ABBA01034969;AF251699;AK095889;AK123218;AK222642;AK303821;AK307077;AK313110;AL136683;AMYH02000599;BC011579;BC090039;BP326836;BQ927627;BX394857;CH471059;DC424669;FO393419;NM_032125;NR_037576;NR_037577;NR_037580;XM_006710942;XM_006710943 AAH11579;AAH90039;AAL99388;ACE86432;ACE87107;BAD96362;BAG35932;BAG64769;CAB66618;EAX07763;EAX07764;EAX07765;EAX07766;EAX07767;EAX07768;NP_115501;Q9H0R3;XP_006711005;XP_006711006 Hs.469171 1698766;1763329 RH102946;SHGC-147056 C1orf160;DKFZP564D0478;MGC111002;RP11-4K3__A.4 OTTHUMP00000004634;OTTHUMP00000004636;OTTHUMP00000004637;OTTHUMP00000197260 protein-coding ENSG00000186501 HGNC:25363 13167 VALIDATED 1348278 TMEM229B transmembrane protein 229B ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cadmium atom; 3,4-methylenedioxymethamphetamine (ortholog); benzo[a]pyrene (ortholog) 14 14 14 q24.1 47996017 48041084 - 67913801 67982445 - 67447084 67533739 - 6480464;8554872 12477932;14702039;15489334;22359512;23251661 161145 G3V2T8;G3V4W3;G3V528;G3V5K9;Q8NBD8 ABBA01023709;ABBA01023710;AK056646;AK074690;AK090706;AL132640;AL139785;AMYH02029401;BC104940;BC104942;CH471061;NM_182526;XM_005267373;XM_005267374;XM_005267375;XM_006720062;XR_245666 AAI04941;AAI04943;BAC03507;EAW80938;EAW80939;NP_872332;Q8NBD8;XP_005267430;XP_005267431;XP_005267432;XP_006720125 Hs.509707 1736416;1789246;1856651;2146169 D14S676E;D14S838;G35939;G65623 C14orf83;FLJ33387 OTTHUMP00000245702;OTTHUMP00000245703 APPROVED protein-coding ENSG00000198133 HGNC:20130 08157 PROVISIONAL 1605235 TMEM225 transmembrane protein 225 INVOLVED IN negative regulation of phosphatase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH levonorgestrel; potassium dichromate (ortholog) 11 11 11 q24.1 120913041 120915748 - 123753633 123756340 - 123882926 123885642 - 6480464;8554872 19389623;23362303 338661 E9PLT9;Q6GV28 AA437068;ABBA01031265;AMYH02025719;AP002407;AY634366;BX091037;CH471065;KF455554;NM_001013743;XM_006718832 AAT47557;EAW67557;EAW67558;EAW67559;NP_001013765;Q6GV28;XP_006718895 Hs.98377 1690328;1698044 RH102553;RH93164 PMP22CD;PPP1R154 OTTHUMP00000231611;OTTHUMP00000231612;PMP22 claudin domain containing;PMP22 claudin domain-containing protein protein-coding ENSG00000204300 HGNC:32390 18492 VALIDATED 1316576 TMEM230 transmembrane protein 230 FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; bleomycin A5 20 20 20 p13 5150515 5163754 - 5049129 5093736 - 5099837 5113087 - 6480464 11780052;12477932;12975309;14702039;15489334;16169070;17207965;21048031;21103663;21139048;21890473;21906983;21963094;22412018;22505724 29058 Q5JWB9;Q96A57 ABBA01053873;ABBA01053874;AF161392;AK055700;AK309823;AK315606;AL121890;AL121924;AL357536;AMYH02036637;AX061598;AX061644;AY359115;BC009768;BC009769;BC009770;BC011990;BC015113;BC066317;BC070212;BC110408;CH471133;NM_001009923;NM_001009924;NM_001009925;NM_014145;XM_005260713;XM_006723561 AAF28952;AAH09768;AAH09769;AAH09770;AAH11990;AAH15113;AAH70212;AAI10409;AAQ89473;ADQ33136;BAG37975;CAC24974;CAC25005;EAX10431;EAX10432;EAX10433;EAX10434;EAX10435;EAX10436;EAX10437;NP_001009923;NP_001009924;NP_001009925;NP_054864;Q96A57;XP_005260770;XP_006723624 Hs.472024 1337805;1657295;1669344;1684774;1686418;2162867 D20S583E;D20S895;RH16336;RH27397;SHGC-35090;WI-11626 C20orf30;HSPC274;dJ1116H23.2.1 OTTHUMP00000030179;OTTHUMP00000030181;OTTHUMP00000030182;OTTHUMP00000030183;OTTHUMP00000030184;OTTHUMP00000030185;OTTHUMP00000030186;OTTHUMP00000030187;UPF0414 transmembrane protein C20orf30;hypothetical protein LOC29058 APPROVED protein-coding ENSG00000089063 HGNC:15876 12762 VALIDATED 1606787 TMEM234 transmembrane protein 234 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p36.11-p34.2 30951700 30957828 - 32680040 32687954 - 32214439 32222353 - 6480464;8554872 12477932;12975309;17207965 56063 B4DHR3;E9PNU5;Q8WY98 ABBA01023436;AF258548;AK075260;AK295232;AK312046;AL049795;AL512700;AMYH02000706;AY358586;BC001256;BC004885;BC038842;CH471059;NM_019118;XM_005271044;XM_005271045;XM_005271046;XM_006710773;XM_006710774;XM_006710775;XM_006710776;XM_006710777 AAG23751;AAH04885;AAH38842;AAQ88949;ADQ32521;BAC11504;BAG34982;BAG58225;EAX07556;EAX07557;EAX07558;EAX07559;EAX07560;NP_061991;Q8WY98;XP_005271101;XP_005271102;XP_005271103;XP_006710836;XP_006710837;XP_006710838;XP_006710839;XP_006710840 Hs.272299 1680539;1732858;2161383;5014740;5015619;5015961;5021872;5022322;5024756;5037552 D11S2560;D11S3114;D15S1477;D17S610;D1S1290;D8S2279;RH80030;RH98271;SHGC-74503;sY3084 AASL548;C1orf91;FLJ90779;PRO1105;RP4-622L5;RP4-622L5.3;dJ622L5.7 OTTHUMP00000008485;OTTHUMP00000035920;OTTHUMP00000190847;OTTHUMP00000233195;hypothetical protein LOC56063 APPROVED protein-coding ENSG00000160055 HGNC:28837 15270 PROVISIONAL 1315474 TMEM237 transmembrane protein 237 The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 2 2 2 q33.2 196236809 196260126 - 202484907 202508252 - 201620184 201643529 - 1580863;6480464;8699517;7240710;8554872 11586298;12477932;14702039;15342556;15489334;15815621;18482256;19946888;20301500;20301743;20375344;20467438;21906983;21963094;22152675;24250222;24816145 65062 F2Z329;F8WE96;Q96Q45 AB053301;ABBA01062545;AC007279;AC007282;AF212043;AK022836;AK090601;AK125841;AK303954;AK304395;AMYH02005550;BC013730;BC029611;BP226834;BQ219059;BX538000;CH471063;NG_032049;NM_001044385;NM_152388 AAH13730;AAH29611;AAL56640;AAY14694;AAY15056;ADZ15358;BAB69011;BAC03487;BAG64880;BAG65230;CAD97955;EAW70281;EAW70282;EAW70283;EAW70284;NP_001037850;NP_689601;Q96Q45 Hs.12319 1655887;1686574;1709454;1728853;1789042;2119307;2138973;2143248 G54442;G65656;RH15616;RH47568;RH68361;RH79761;SHGC-81771;STS-N48800 ALS2CR4;DKFZp313L091;FLJ33282;JBTS14 ALS2CR4 protein, N-terminus truncated;OTTHUMP00000205924;OTTHUMP00000205925;OTTHUMP00000205927;OTTHUMP00000205928;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein APPROVED protein-coding ENSG00000155755 HGNC:14432 12448 614423;614424 REVIEWED 3029048 TMEM232 transmembrane protein 232 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred) 5 5 5 q22.1 105701072 106008330 - 109755197 110062507 - 110419496 110738922 - 8554872 12477932;14702039;17903294;19584346;19913121;20379614;20628086;22036096;8889548 642987 C9JQI7;D6RC30;D6REY3;D6RF96;E5RG73 ABBA01069076;ABBA01069077;ABBA01069078;ABBA01069079;AC008650;AC010349;AC012622;AC093538;AC114290;AK125070;AK296542;AMYH02011959;AMYH02011960;AMYH02011961;AMYH02011962;BC042563;BM465182;BM978936;BX648527;CH471086;DC399208;KC877072;KC877081;KF454877;NM_001039763;XM_005272046;XM_006714670 BAG59166;C9JQI7;EAW49042;NP_001034852;XP_005272103;XP_006714733 Hs.729154 1340969;1685796;1731393;1747963;1760331;1785344;2152149;2184749 AFM238WC5;D5S134;D5S2501;G66895;RH94309;SHGC-112051;SHGC-141814;STS-N22931 DKFZp686G0585;FLJ35903;FLJ43080 OTTHUMP00000223486 protein-coding ENSG00000186952 HGNC:37270 VALIDATED 2923596 TMEM233 transmembrane protein 233 FOUND IN integral component of membrane (inferred) 12 12 12 q24.23 119664354 119712412 + 120031264 120079861 + 119593459 119642056 + 20379614;21890473;22363774 387890 B4DJY2 ABBA01020075;ABBA01020076;AC002070;AC002563;AK296289;AMYH02027346;AMYH02027347;AMYH02027348;NM_001136534;XM_005253880;XM_005253881 B4DJY2;BAG58994;NP_001130006;XP_005253937;XP_005253938 Hs.530965 2155450 G15655 DSPB2;IFITMD2 OTTHUMP00000239789;dispanin subfamily B member 2;interferon induced transmembrane protein domain containing 2;interferon-induced transmembrane domain-containing protein D2 protein-coding HGNC:37219 PROVISIONAL 5488169 TMEM239 transmembrane protein 239 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) 20 20 20 p13 2861494 2862321 + 2796585 2797804 + 2815840 2817158 + 8554872 12477932;23218918 100288797 Q6ZPB1;Q8WW34 ABBA01053798;AK126033;AL035460;AL161656;AMYH02036587;BC021178;CH471133;NM_001167670;XM_005260633;XM_005260634;XM_006723534 AAH21178;BAC86404;EAX10573;NP_001161142;Q8WW34;XP_005260690;XP_005260691;XP_006723597 Hs.664180 1772400;5037552 D8S2279;G09802 FLJ26142;FLJ44045 OTTHUMP00000030046;hypothetical protein LOC100288797;uncharacterized protein LOC100288797 protein-coding ENSG00000198326 HGNC:40044 VALIDATED 1603247 TMEM240 transmembrane protein 240 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH thimerosal (ortholog) 1 1 1 p36.33 1104704 1110285 + 1470158 1475740 - 1534778 1540360 - 6480464;8554872 11181995;12477932;20301317 339453 Q5SV17 ABBA01016052;AL645728;AMYH02000102;AMYH02000103;BC147018;BC147020;BF446167;BU929336;CH471183;EG328560;NM_001114748 AAI47019;AAI47021;EAW56184;EAW56185;NP_001108220;Q5SV17 Hs.668654 1854621;2150645 SHGC-74090;SHGC-74117 C1orf70 OTTHUMP00000039180;transmembrane protein C1orf70 APPROVED protein-coding HGNC:25186 VALIDATED 5488447 TMEM238 transmembrane protein 238 FOUND IN integral component of membrane (inferred); INTERACTS WITH progesterone (ortholog) 19 19 19 q13.42 52931435 52936450 - 55890612 55895627 - 55379244 55384259 - 6480464 12477932 388564 C9JI98 ABBA01068099;ABBA01068100;AC020922;AMYH02036462;AMYH02036463;AMYH02036464;BC052596;NM_001190764;XR_424995 C9JI98;NP_001177693 Hs.534672 hypothetical protein LOC388564 protein-coding HGNC:40042 VALIDATED 4892151 TMEM235 transmembrane protein 235 ENCODES a protein that exhibits structural molecule activity (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); tight junction (inferred); INTERACTS WITH furan (ortholog) 17 17 17 q25.3 72823419 72833096 + 76227391 76237068 + 78231310 78240987 + 6480464 12477932;21689651 283999 A6NFC5;K7EMB0 ABBA01002937;ABBA01002938;AC087645;AMYH02034050;AMYH02034051;BC036810;BC042066;BC148207;BI757060;BI757981;CH471099;NM_001204210;NM_001204211;NM_001204212;XM_006721822 A6NFC5;EAW89517;NP_001191139;NP_001191140;NP_001191141;XP_006721885 Hs.632228 1341087;1722687 D17S802;G60428 ARGM1 OTTHUMP00000243537;OTTHUMP00000243538;OTTHUMP00000243539;OTTHUMP00000243540;transmembrane protein ENSP00000364084 APPROVED protein-coding ENSG00000204278 HGNC:27563 VALIDATED 1316350 TMEM242 transmembrane protein 242 FOUND IN integral component of membrane (inferred); INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate; valproic acid 6 6 6 q25.3 158349337 158384390 - 157710054 157745253 - 157289022 157324221 - 6480464 11181995;12477932;14702039;16344560;21103663;8889548 729515 Q5T2S1;Q9NWH2 AA704900;ABBA01021118;ABBA01021119;ABBA01021120;ABBA01021121;AF161405;AF217510;AI803082;AK000891;AL390955;AL607068;AMYH02014826;AW663695;AX875619;BC029130;BC146893;BC146895;BE047087;BG055128;BM985312;BX092637;BX099608;BX284653;CD244433;CH471051;CS185616;DA190259;DA368186;DA407942;DA684766;NM_018452 AAF28965;AAF67621;AAH29130;AAI46894;AAI46896;BAA91409;CAE88944;CAJ42797;EAW47676;EAW47677;NP_060922;Q9NWH2 Hs.157212 1653792;1714453;1736274;2133788;2160936;2163986 D12S1230E;D6S1229E;D6S1934;RH119737;RH47385;RH65412 BM033;C6orf35;FLJ10029;MGC34308 OTTHUMP00000017481;OTTHUMP00000017482;UPF0463 transmembrane protein C6orf35;hypothetical protein LOC729515;uncharacterized bone marrow protein BM033 APPROVED protein-coding ENSG00000215712 HGNC:17206 VALIDATED 1351617 TMEM241 transmembrane protein 241 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; potassium chromate 18 18 18 q11.2 17691854 17833802 - 20875977 21017925 - 23296013 23437969 - 737633;6480464 12477932 16189514;19322201;20546612;23027870;23505323 85019 B4DH40;E9PJC2;E9PLG4;F5GXY7;H0YDH1;I0J131;J3QL29;J3QR22;J3QRE6;Q24JQ0 AB253738;AB253739;ABBA01022636;ABBA01022637;ABBA01022638;ABBA01022639;AC011731;AC026634;AK123623;AK126247;AK294916;AK303553;AK314123;AMYH02034412;AMYH02034413;AMYH02034414;BC006280;BC054507;BC082984;BC114510;BC114561;CH471088;KF456353;NM_032933;XM_005258373;XM_006722560;XM_006722561;XR_243852;XR_243853;XR_243854 AAH54507;AAI14511;AAI14562;BAC85665;BAC86502;BAG36814;BAG58001;BAG64577;BAM11306;BAM11307;EAX01150;NP_116322;Q24JQ0;XP_005258430;XP_006722623;XP_006722624 Hs.137562 1680553;1691374;1691376;1855912 G42066;G42067;RH69816;RH79735 C18orf45;FLJ44259;MGC11386;MGC138577;hVVT OTTHUMP00000162577;OTTHUMP00000233181;putative vertebrate vrg4-like nucleotide-sugar transporter truncated variant2;putative vertebrate vrg4-like nucleotide-sugar transporter variant1;transmembrane protein C18orf45 APPROVED protein-coding ENSG00000134490 HGNC:31723 12692 615430 VALIDATED 3008206 TMEM231 transmembrane protein 231 This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] 16 16 16 q23.1 59866319 59884472 - 75572015 75590184 - 75538117 75556286 - 6480464;8699517;7240710;8554872 12477932;12975309;14702039;16344560;20301500;20301743;22179047;22268729;23012439;23349226 79583 H3BMW7;H3BPY4;H3BTN6;Q9H6L2 ABBA01017057;AC009163;AC025287;AK025820;AK057689;AK096650;AK290483;AK298994;AK307263;AMYH02032404;AY358612;BC010609;BC016401;BC063677;BM973146;BU173659;CH471114;DA498255;DB082071;DC330418;NG_033109;NM_001077416;NM_001077418;NR_074083 AAH10609;AAH16401;AAH63677;AAQ88975;BAB15244;BAF83172;BAG53347;BAH12919;EAW95632;EAW95633;EAW95634;NP_001070884;NP_001070886;Q9H6L2 Hs.156784 1705152;2170050;2171287;2176133;2176135;5023364 A005X09;D16S3189;G20564;RH15634;RH68374;SHGC-80010 ALYE870;FLJ22167;JBTS20;MKS11;PRO1886 protein-coding ENSG00000205084 HGNC:37234 614949;614970;615397 REVIEWED 1606936 TMEM244 transmembrane protein 244 FOUND IN integral component of membrane (inferred) 6 6 6 q22.33 130898776 130928803 - 130152389 130182416 - 129831244 129861271 - 14574404 253582 Q5VVB8 ABBA01025907;AL451046;AMYH02014471;CH471051;NM_001010876 EAW48075;NP_001010876;Q5VVB8 Hs.448372 C6orf191;bA174C7.4 OTTHUMP00000017191;putative transmembrane protein C6orf191 APPROVED protein-coding ENSG00000203756 HGNC:21571 16663 VALIDATED 1349104 TMEM243 transmembrane protein 243, mitochondrial FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; arsenous acid 7 7 7 q21.12 81530357 81553909 - 86825477 86849889 - 87196161 87220573 - 6480464 12477932;12690205;15489334;15556294;16382445;18510171;20351715 79161 C9JY04;Q9BU79 ABBA01045869;AC005076;AK313794;AMYH02016214;BC002837;BT006973;CH236949;CH471091;NM_024315;XM_005250585;XM_005250586;XM_005250587;XM_005250588;XM_005250589 AAH02837;AAP35619;BAG36531;EAL24179;EAW76960;EAW76961;NP_077291;Q9BU79;XP_005250642;XP_005250643;XP_005250644;XP_005250645;XP_005250646 Hs.619593 1654516;2120670;2126082 RH78780;SHGC-64937;STS-T90340 C7orf23;MGC4175;MM-TRAG MDR1 and mitochondrial taxol resistance associated;OTTHUMP00000161396;OTTHUMP00000205314;OTTHUMP00000205316;transmembrane protein 243;transmembrane protein C7orf23 APPROVED protein-coding ENSG00000135185 HGNC:21707 12911 PROVISIONAL 8699247 TMEM246-AS1 TMEM246 antisense RNA 1 9 9 q31.1 104231557 104243780 + 101469275 101481537 + 101928470 ABBA01042874;AI582584;AI765040;AI816924;AL353621;AMYH02021354;AW451983;HG502318;HG502319;NR_121573;NR_121574;NR_121575;NR_121576;XR_242658;XR_250526;XR_252627 Hs.656088 ncrna HGNC:51191 VALIDATED 1316281 TMEM246 transmembrane protein 246 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; fonofos; parathion 9 9 9 q31.1 74751854 74763731 - 104235442 104249475 - 101473160 101487193 - 737633;6480464 12477932 15164053;15489334;21139048;21906983;21988832 84302 Q24K26;Q9BRR3 ABBA01042874;AK313981;AL353621;AMYH02021354;BC006115;BC033550;BC113967;CH471105;NM_032342;XM_005252275;XM_005252276 AAH06115;AAH33550;AAI13968;EAW58953;EAW58954;NP_115718;Q9BRR3;XP_005252332;XP_005252333 Hs.655738 1705500;1771395;1787146;2178236 G29148;RH18341;SHGC-155775;SHGC-83842 C9orf125;MGC12992 OTTHUMP00000021805;OTTHUMP00000021806;OTTHUMP00000021807;transmembrane protein C9orf125 APPROVED protein-coding HGNC:28180 12940 PROVISIONAL 6482527 TMEM247 transmembrane protein 247 FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred) 2 2 2 p21 46545389 46550250 + 46706704 46711564 + 46479565 46484425 + 15815621 388946 A6NEH6 AA431175;AA432195;ABBA01075137;AC016912;AC018682;AMYH02003735;NM_001145051 A6NEH6;NP_001138523 Hs.733348 transmembrane protein ENSP00000343375 protein-coding ENSG00000187600 HGNC:42967 VALIDATED 1319034 TMEM245 transmembrane protein 245 INTERACTS WITH all-trans-retinoic acid; arsenous acid; benzo[a]pyrene diol epoxide I 9 9 9 q31 82276614 82381435 - 111777415 111882225 - 109015135 109119945 - 6480464 10564813;12477932;14702039;15164053;15342556;15489334;16341674;21130836;21906983;22268729;23382809 23731 F8WBJ7;H7C0G1;Q9H330 AA465408;ABBA01042772;ABBA01042773;ABBA01042774;AF086175;AF153415;AK074248;AK090543;AK095537;AK172815;AK299952;AL354797;AL358815;AL556162;AL669894;AL833960;AMYH02021431;AMYH02021432;AMYH02021433;BC014248;BE675782;BM817899;BP351493;BP360669;CH471105;CX865814;DC341553;NM_032012 AAG43365;AAH14248;BAD18785;BAG61779;CAD38810;EAW59038;EAW59039;NP_114401;Q9H330 Hs.308074;Hs.621479 1664682;1769401;1769856;1772757;1847675;1847834;2120650;2123312;2152125;2163362;2177054 A004G45;A004X14;A006Q03;D9S1926;G29672;RH16318;RH18174;RH65051;SHGC-57492;STS-W44790;WI-20799 C9orf5;CG-2;CG2;FLJ23668;FLJ33224 OTTHUMP00000021880;OTTHUMP00000215869;transmembrane protein C9orf5 APPROVED protein-coding ENSG00000106771 HGNC:1363 09866 VALIDATED 6484097 TMEM248P1 transmembrane protein 248 pseudogene 1 4 4 4 q28.1 124024725 124025669 - 126644428 126645372 - 125723273 125724217 - 17903303 645841 ABBA01044779;AC105919;AMYH02010052;NG_022036 pseudo HGNC:44053 INFERRED 1602880 TMEM248 transmembrane protein 248 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; hydralazine 7 7 7 q11.21 65692669 65730006 - 66386203 66423538 + 66921216 66958551 + 6480464 12477932;12690205;14702039;16196087;17207965;21139048;21963094;22505724;22990118;23291589;8125298 55069 C9J3C8;C9JKP5;F8WE75;Q9NWD8;U3KQ21 ABBA01048960;ABBA01048961;AC073335;AC079920;AK000961;AK023152;AK222774;AMYH02015914;AX875754;AX961954;BC008675;BC010519;BC012562;BC022841;BC041764;CH236961;CH471140;NM_017994;XM_005250482 AAH08675;AAH10519;AAH12562;AAH41764;ADQ33145;ADZ15805;BAA91444;BAD96494;CAE88991;CAF06486;EAL23731;EAX07907;EAX07908;EAX07909;NP_060464;Q9NWD8;XP_005250539 Hs.488478 1665676;1790171;1852418;1853939;2114826;2166501 D7S2073E;D7S2304;D7S3250;GDB:1318718;RH79187;STS-N32551 C7orf42;FLJ10099;FLJ13090 OTTHUMP00000159952;OTTHUMP00000210991;UPF0458 protein C7orf42;hypothetical protein LOC55069 APPROVED protein-coding ENSG00000106609 HGNC:25476 08541 VALIDATED 6767351 TMEM249 transmembrane protein 249 FOUND IN integral component of membrane (inferred) 8 8 8 q24.3 141752267 141753886 - 145576886 145579269 - 144353226 144355609 - 12477932 340393 Q2WGJ8 AA781425;AB196634;ABBA01005210;ABBA01005211;AC233992;AF205589;AI478864;AMYH02019003;BC127763;BC127764;BC141966;BC150569;BC150570;BX089061;BX648457;HY019398;NM_001252402;NM_001252404;NM_001280561;NR_047684 BAE53436;NP_001239331;NP_001239333;NP_001267490;Q2WGJ8 Hs.122231 1675786 RH15614 C8ORFK29 putative transmembrane protein C8orfK29 protein-coding ENSG00000261587 HGNC:44155 VALIDATED 1353835 TMEM252 transmembrane protein 252 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); cefaloridine (ortholog) 9 9 9 q21.11 41746580 41750867 - 71151496 71155783 - 68536580 68540867 - 737633;6480464 12477932 15164053;15489334;23824909 169693 Q8N6L7 ABBA01033793;AL353616;AMYH02020920;BC029780;CH471089;NM_153237 AAH29780;ABM81723;ABM84878;EAW62461;NP_694969;Q8N6L7 Hs.663056 1714609 RH119970 C9orf71;MGC34760;RP11-274B18.1 OTTHUMP00000021420;transmembrane protein C9orf71 APPROVED protein-coding ENSG00000181778 HGNC:28537 18569 PROVISIONAL 1349731 TMEM236 transmembrane protein 236 FOUND IN integral component of membrane (inferred); INTERACTS WITH valproic acid (ortholog) 10 10 10 p12.33 17727726 17776346 + 17794260 17842866 + 17752261 17800867 + 6480464 11181995;12477932;14702039;15164054;20139978 653567 Q5W0B7 ABBA01034551;ABBA01034552;AK056775;AK300456;AL139238;AL928729;AMYH02022257;AMYH02022258;AMYH02022259;AMYH02022260;AMYH02022261;AMYH02022262;AMYH02022263;AMYH02022264;AMYH02022265;AMYH02022266;AMYH02022267;AMYH02022268;AMYH02022269;AMYH02022270;AMYH02022271;AMYH02022272;AMYH02022273;AMYH02022274;AMYH02022275;AMYH02022276;AMYH02022277;AMYH02022278;AMYH02022279;AMYH02022280;AMYH02022281;AMYH02022282;AMYH02022283;AMYH02022284;AMYH02022285;AMYH02022286;AMYH02022287;AMYH02022288;AMYH02022289;AMYH02022290;AMYH02022291;AMYH02022292;AMYH02022293;AMYH02022294;AMYH02022295;AMYH02022296;AMYH02022297;AMYH02022298;AMYH02022299;AMYH02022300;AMYH02022301;AMYH02022302;AMYH02022303;AMYH02022304;AMYH02022305;AMYH02022306;AMYH02022307;AMYH02022308;AMYH02022309;AMYH02022310;AMYH02022311;AMYH02022312;AMYH02022313;AMYH02022314;AMYH02022315;AMYH02022316;AMYH02022317;AMYH02022318;AMYH02022319;AMYH02022320;AMYH02022321;AMYH02022322;AMYH02022323;AMYH02022324;AMYH02022325;AMYH02022326;AMYH02022327;AMYH02022328;AMYH02022329;AMYH02022330;AMYH02022331;AMYH02022332;AMYH02022333;AMYH02022334;BC157856;BX097915;CH471072;NM_001098844 AAI57857;BAG62176;CAH70732;EAW86206;NP_001092314;Q5W0B7 Hs.564139;Hs.733272 1698060;1755569;1760783;2159124;5022578;5024761;5037552 D1S1423;D8S2279;RH102562;RH36905;RH45650;SHGC-142424;SHGC-144297 FAM23A;FAM23B;FLJ59050;bA162I21.2;bA16O1.2 OTTHUMP00000019242;OTTHUMP00000019244;family with sequence similarity 23, member A;family with sequence similarity 23, member B;hypothetical protein LOC653567 APPROVED protein-coding ENSG00000148483 HGNC:23473 VALIDATED 1349199 TMEM251 transmembrane protein 251 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; paracetamol 14 14 14 q32.12 73705303 73707438 + 93651296 93653431 + 93184951 93187086 + 6480464;8554872 12477932;15489334 26175 Q8N6I4 ABBA01030436;AL080118;AL110118;AMYH02029770;AW404266;BC030119;BP398505;CH471061;CX785861;NM_001098621;NM_015676 AAH30119;CAB45717;EAW81517;EAW81518;NP_001092091;NP_056491;Q8N6I4 Hs.275352;Hs.648806 2186834 D14S1115 C14orf109;DKFZp564F1123 OTTHUMP00000245671;OTTHUMP00000245672;UPF0694 transmembrane protein C14orf109;hypothetical protein LOC26175 APPROVED protein-coding ENSG00000153485 HGNC:20218 PROVISIONAL 1350182 TMEM25 transmembrane protein 25 FOUND IN extracellular region (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH copper atom; copper(0); copper(2+) sulfate 11 11 11 q23.3 115562597 115578107 + 118401803 118417313 + 118531088 118546598 + 6480464 12477932;12975309;14702039;15254712;15340161;15489334;16303743;16713569;17549794;19776672;23324576;8125298 84866 E9PI73;E9PID6;E9PIE6;E9PIR4;E9PIT4;E9PK43;E9PK88;E9PKP3;H0YC87;H0YD63;Q86YD3 ABBA01039705;ABBA01039706;AK027305;AK056325;AK075437;AK096260;AK124814;AK225415;AK292359;AK293670;AK297255;AMYH02025642;AP000941;AY358919;BC036433;BC042896;BC051841;BF513120;CH471065;EF445037;NM_001144034;NM_001144035;NM_001144036;NM_001144037;NM_001144038;NM_032780;XM_005271703;XM_006718926;XM_006718927;XM_006718928 AAH42896;AAH51841;AAQ89278;ACA06084;ACA06085;ACA06086;ACA06087;BAB55029;BAB71151;BAC11620;BAF85048;BAH11564;BAH12530;EAW67388;EAW67389;EAW67390;EAW67391;EAW67392;EAW67393;NP_001137506;NP_001137507;NP_001137508;NP_001137509;NP_001137510;NP_116169;Q86YD3;XP_005271760;XP_006718989;XP_006718990;XP_006718991 Hs.564188 1671633;1676272;1733198;1736182;1737611;2118821;2134037;2154367 A003N23;D11S1954E;D11S2305E;D11S3207;RH91715;SHGC-32106;WI-12265;WI-16160 FLJ14399 0610039J01Rik;OTTHUMP00000232658;OTTHUMP00000232659;OTTHUMP00000232667;OTTHUMP00000232668;OTTHUMP00000232670;OTTHUMP00000232672;OTTHUMP00000232674;OTTHUMP00000232825 protein-coding ENSG00000149582 HGNC:25890 11635 613934 VALIDATED 1605993 TMEM255A transmembrane protein 255A ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); copper(2+) sulfate X X X q24 119858090 119910982 - 119392505 119445391 - 120258650 120311556 - 6480464;8554872 12477932;14702039;15489334;15772651;16344560;21832049 55026 E5RFR0;Q5JRV8;Q7Z4S8 ABBA01049605;ABBA01049606;ABBA01049607;ABBA01049608;ABBA01049609;ABBA01049610;ABBA01049611;ABBA01049612;ABBA01049613;ABBA01049614;AC002086;AF450484;AK000723;AK056403;AK289684;AL512286;AMYH02040358;AMYH02040359;AMYH02040360;AMYH02040361;BC047054;CH471107;DA758358;DB165640;NM_001104544;NM_001104545;NM_017938;XR_430546 AAH47054;AAP97678;BAA91341;BAF82373;BAG51698;EAX11887;EAX11888;EAX11889;EAX11890;NP_001098014;NP_001098015;NP_060408;Q5JRV8 Hs.437563 1648724;1675682;1852732;2122884;2149543;2150134;2183331;2220298 AB056807;AL008910;AL008936;AL031105;DXS8292;RH47097;RH78409;SHGC-30611 FAM70A;FLJ20716;RP3-525N14.6 OTTHUMP00000023936;OTTHUMP00000023937;OTTHUMP00000226587;family with sequence similarity 70, member A;hypothetical protein LOC55026 APPROVED protein-coding ENSG00000125355 HGNC:26086 06535 VALIDATED 7387102 TMEM256-PLSCR3 TMEM256-PLSCR3 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring chromosome 17 open reading frame 61 (C17orf61) and phospholipid scramblase 3 (PLSCR3) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jan 2011] 17 17 p 7293046 7307450 - 7389727 7404131 - 6480464 14702039;20967262 100529211 I3L161;I3L1P6;I3L1V1;I3L3X5;I3L4F5;I3NI29 ABBA01054862;ABBA01054863;ABBA01054864;AC113189;AK055822;AK290117;AMYH02032899;AMYH02032900;AMYH02032901;NR_037719 BAF82806;BAG51579 Hs.534591 1681516;2117142 RH17416;RH79604 C17orf61-PLSCR3 ncrna HGNC:49186 VALIDATED 1606934 TMEM256 transmembrane protein 256 FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; aflatoxin B1; atrazine 17 17 17 p13.1 7332169 7333291 - 7306293 7307450 - 7402974 7404131 - 6480464 12477932;16169070;16341674;16712791;19056867;21103663;21139048;22939629 254863 K7ERL9;Q8N2U0 ABBA01054864;AC113189;AMYH02032900;AMYH02032901;BC030270;BM749297;CB140450;CH471108;EB386328;NM_152766 AAH30270;EAW90201;NP_689979;Q8N2U0 Hs.730789 1680563;1855881;2137076 RH40266;RH46979;WI-18431 C17orf61;MGC40107 OTTHUMP00000163817;UPF0451 protein C17orf61;hypothetical protein LOC254863 APPROVED protein-coding ENSG00000205544 HGNC:28618 17548 VALIDATED 1602045 TMEM255B transmembrane protein 255B ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); dibutyl phthalate (ortholog) 13 13 13 q34 95189821 95224279 + 114462191 114515225 + 113759218 113812252 + 6480464;8554872 12477932;15057823;15489334;23382691 348013 Q8WV15 ABBA01015949;ABBA01015950;ABBA01015951;ABBA01015952;ABBA01015953;AC187648;AK295653;AMYH02028748;BC018995;BX072579;BX088578;CH471085;NM_182614;XM_005272413;XM_005272414;XM_005272415;XM_005272416;XM_006719982;XM_006719983;XM_006719984;XM_006719985;XM_006719986;XM_006719987;XM_006719988;XM_006719989;XM_006719990 AAH18995;ACE86459;ACE87140;BAG58520;EAX09225;NP_872420;Q8WV15;XP_005272470;XP_005272471;XP_005272472;XP_005272473;XP_006720045;XP_006720046;XP_006720047;XP_006720048;XP_006720049;XP_006720050;XP_006720051;XP_006720052;XP_006720053 Hs.280805 1757725;1765013;5128003 SHGC-146361;SHGC-148563;SHGC-153433 FAM70B;FLJ57938;MGC20579;RP11-199F6.1 OTTHUMP00000216423;family with sequence similarity 70, member B APPROVED protein-coding HGNC:28297 14474 PROVISIONAL 7240964 TMEM256P1 transmembrane protein 256 pseudogene 1 10 10 10 q22.1 64559471 64559813 - 71282979 71283415 - 69523223 69523659 - 645269 ABBA01005150;AC016821;AMYH02023273;NG_028106 pseudo HGNC:45087 INFERRED 1626192 TMEM253 transmembrane protein 253 FOUND IN integral component of membrane (inferred) 14 14 14 q11.2 1427654 1432447 + 21567096 21571883 + 21098937 21103724 + 21988832;8889549 643382 H0YLA3;P0C7T8 AA284798;AA284845;ABBA01061240;AL161668;AMYH02028829;NM_001146683;XM_006720233 NP_001140155;P0C7T8;XP_006720296 Hs.540107 1680789 RH92583 C14orf176;C14orf95;NCRNA00220 transmembrane protein C14orf176 APPROVED protein-coding ENSG00000232070 HGNC:32545 VALIDATED 1352055 TMEM257 transmembrane protein 257 This intronless gene is expressed in the hippocampus and maps close to a candidate region for several X-linked mental retardation (XLMR) syndromes. It is conserved in primates, cow, and horse, but not found in mouse and rat. The exact function of this gene is not known, but on the basis of its physical location and expression pattern, it is proposed to have an important function in the brain. [provided by RefSeq, Jan 2010] X X X q27.3 145221283 145223729 + 144908928 144911374 + 145827410 145829856 + 6480464 12477932;15489334;15772651;19460752;8619474;9110174;9881668 9142 O96002 ABBA01054370;AF007148;AL109653;AL134413;AMYH02040716;BC113600;BC113604;CH471175;NG_016553;NM_004709;Y08902;Y10607 AAI13601;AAI13605;ADR83470;CAA70110;CAA71614;EAW53956;NP_004700;O96002 Hs.106688 1644951;1653012;1662813;2114918;2220444 DXS7004E;RH18200;RH77732;UniSTS:482415;WI-20478 CXorf1;MGC142160;MGC142164 OTTHUMP00000215976;hypothetical protein LOC9142;uncharacterized protein CXorf1 APPROVED protein-coding ENSG00000221870 HGNC:2562 06477 300565 VALIDATED 8699154 TMEM26-AS1 TMEM26 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 q21.2 63212397 63253191 + 61452390 61493433 + 8554872 101928781 ABBA01019475;ABBA01019476;AI286021;AL356952;AMYH02023181;BC041470;BX100788;HG502938;NR_120643;NR_120644;NR_120645;XR_246117;XR_247523;XR_252751 Hs.568856 ncrna HGNC:51209 VALIDATED 1351820 TMEM258 transmembrane protein 258 FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; cobalt dichloride; copper(2+) sulfate 11 11 11 q12.2 58892014 58895497 - 61556602 61560085 - 61789130 61792613 - 6480464 11042152;12427278;12477932;12665801;15489334;19913121;20562440;20628086;20694148;21102463;21139048;21829377;22359512;22916037;23362303;23813974 746 F5GWH5;F5H7Z5;P61165 ABBA01003206;AF070661;AF085986;AF086763;AK291683;AMYH02024883;AP002380;BC002750;BC015968;CH471076;CS488918;CS488982;NM_014206 AAD20967;AAF28401;AAH02750;AAH15968;BAF84372;CAM55992;CAM56011;EAW73970;EAW73971;NP_055021;P61165 Hs.437779 5493900 1810006K21Rik C11orf10 OTTHUMP00000238170;OTTHUMP00000238173;UPF0197 transmembrane protein C11orf10;hypothetical protein LOC746;protein NEF1 APPROVED protein-coding ENSG00000134825 HGNC:1164 12602 VALIDATED 1319527 TMEM26 transmembrane protein 26 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH arsenite(3-); benzo[a]pyrene; melphalan 10 10 10 q21.2 56433398 56480207 - 63166401 63213208 - 61406643 61453450 - 737633;6480464;8554872 12477932 14702039;15489334;16385451;19430483;22986903;23006423;24159190 219623 H7BXI3;Q6ZUK4 ABBA01019475;AC068892;AK124367;AK125611;AL356952;AMYH02023181;BC042872;CH471083;CR749606;NM_178505;XR_246076 AAH42872;BAC86218;CAH18401;EAW54219;EAW54220;NP_848600;Q6ZUK4 Hs.623955 DKFZp686D09128;MGC35010 OTTHUMP00000217461;OTTHUMP00000217462 protein-coding ENSG00000196932 HGNC:28550 15534 VALIDATED 7094515 TMEM254-AS1 TMEM254 antisense RNA 1 10 10 10 q23.1 75796937 75829907 - 81805989 81838949 - 80046233 80079193 - 6480464 14702039;16344560 219347 ABBA01003812;ABBA01003813;ABBA01003814;AK021673;AK096758;AK308811;AK309654;AK310182;AK310261;AL356095;AMYH02023415;BC028046;BX094741;CH471142;DA178657;DB060417;HG503081;HG503082;HG503083;NR_027428;NR_027429;NR_027430;NR_027431;NR_027432 EAW80415 Hs.524453 1712917;2167993 RH121094;RH46084 RP11-369J21.5 ncrna HGNC:27340 VALIDATED 1319327 TMEM261 transmembrane protein 261 FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; cobalt dichloride; ethyl methanesulfonate 9 9 9 p24.1 7726922 7730231 - 7796490 7799806 - 7796490 7799799 - 737633;6480464 12477932 15164053;15231747;15489334;19240061;21666724;21832049 90871 Q96GE9 ABBA01065371;AK292632;AL137489;AL354694;AMYH02019117;AX119029;BC009510;BI550091;CH471071;NM_033428 AAH09510;ADZ15990;BAF85321;CAB70768;CAC38588;EAW58728;NP_219500;Q96GE9 Hs.7517 1678695;1679952;1687153;2143217 RH12800;RH39444;RH65064;WIAF-2166 C9orf123;MGC4730 OTTHUMP00000021055;transmembrane protein C9orf123 APPROVED protein-coding ENSG00000137038 HGNC:30536 12939 PROVISIONAL 7409565 TMEM262 transmembrane protein 262 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred) 11 11 11 q13.1 62182142 62182801 - 64855844 64856583 - 65088372 65089109 - 8554872 14702039 100130348 E9PME8;E9PQX1;H0YEQ3 AA416856;ABBA01024136;AI015611;AK124141;AMYH02024952;AP003068;AX970666;BX093670;CS072405;HY032040;NM_001242631;NM_001282448 CAF15774;CAI93543;E9PQX1;NP_001229560;NP_001269377 Hs.712317;Hs.98170 putative uncharacterized protein FLJ42147 protein-coding ENSG00000187066 HGNC:49389 VALIDATED 1602311 TMEM263 transmembrane protein 263 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; cycloheximide 12 12 12 q23.3 107015122 107033374 + 107347298 107367813 + 106955180 106974037 + 6480464 12477932;14702039;15489334;17207965;19322201;21139048;22504420;24250222 90488 F8VPI2;Q8WUH6 ABBA01053160;AC007541;AK001731;AK021783;AK022770;AK024021;AL117658;AMYH02027139;BC020522;CH471054;DB458911;NM_152261;XM_005269216;XM_006719684 AAH20522;ADQ32421;BAG50970;BAG51051;BAG51112;BAG51252;EAW97790;EAW97791;NP_689474;Q8WUH6;XP_005269273;XP_006719747 Hs.257664 1665955;1689117;1851005;2123792;2125917;2131366;2178933;5093332 A009L32;D12S2128;G32657;RH64940;RH68408;SGC35008;STS-N22841;WI-16699 C12orf23;FLJ11721;FLJ13959;MGC17943 OTTHUMP00000242615;OTTHUMP00000242616;OTTHUMP00000242617;OTTHUMP00000242619;OTTHUMP00000242620;UPF0444 transmembrane protein C12orf23;hypothetical protein LOC90488 APPROVED protein-coding ENSG00000151135 HGNC:28281 14462 VALIDATED 1313865 TMEM254 transmembrane protein 254 FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; copper(2+) sulfate; cyclosporin A 10 10 10 q22.3 75829384 75843265 + 81838402 81852307 + 80078646 80092557 + 737633;6480464 12477932 14702039;15164054;15252450;15489334;16385451;23144326;24250222;8125298 80195 B4DU43;H0Y376;H0Y4Q8;Q8TBM7 ABBA01003811;ABBA01003812;AK023325;AK222536;AK300490;AK309425;AK309980;AK310160;AK311563;AL356095;AL832397;AL832483;AMYH02023415;BC022252;BP204746;BP293793;BX537803;CH471142;CR457310;CS488903;CX756014;DA263618;DA520338;DA573956;DA880596;DA930892;DB485367;DQ786319;NM_001270367;NM_001270368;NM_001270369;NM_001270370;NM_001270371;NM_001270372;NM_001270373;NM_001270374;NM_025125;NR_072984;NR_072985;NR_072986;NR_072987;XM_006717978;XM_006717979;XM_006717980;XM_006717981;XM_006717982 AAH22252;BAB14528;BAD96256;BAG62205;CAG33591;CAM55977;EAW80409;EAW80410;EAW80411;EAW80412;EAW80413;EAW80414;NP_001257296;NP_001257297;NP_001257298;NP_001257299;NP_001257300;NP_001257301;NP_001257302;NP_001257303;NP_079401;Q8TBM7;XP_006718041;XP_006718042;XP_006718043;XP_006718044;XP_006718045 Hs.169982 1684128;1852384;2131793;2183134;5106430 RH98939;SHGC-53357;STS-N35038;WI-21569;WI-22546 C10orf57;FLJ13263;RP11-369J21.6;bA369J21.6 OTTHUMP00000019950;OTTHUMP00000019951;OTTHUMP00000019952;OTTHUMP00000019954;transmembrane protein C10orf57 APPROVED protein-coding ENSG00000133678 HGNC:25804 08501 VALIDATED 1354044 TMEM27 transmembrane protein 27 This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013] X X X p22 19760931 19798641 - 15645439 15683154 - 15627316 15665031 - 1299472;737633;1580863;6480464 11278314;12477932 12975309;15489334;16330323;17693757;18424768;19056867;19417552;19582483;19763395;20386877;21814048;21907142;21947380;21988832;22628310;22790173 57393 Q9HBJ8 ABBA01071327;ABBA01071328;ABBA01071329;ABBA01071330;ABBA01071331;ABBA01071332;ABBA01071333;AC003669;AC112497;AF229179;AI470468;AK313835;AMYH02038914;AMYH02038915;AMYH02038916;AY359060;BC014317;BC015099;BC050606;CH471074;NG_015970;NM_020665 AAG09466;AAH14317;AAH15099;AAH50606;AAQ89419;BAG36568;EAW98894;NP_065716;Q9HBJ8 Hs.129614 1732315;2121867;7184838;7185909 CHLC.GGAT16F07;DXS197 NX-17;NX17 0610008J07Rik;OTTHUMP00000022967;collectrin;kidney-specific membrane protein APPROVED protein-coding ENSG00000147003 HGNC:29437 06668 300631 REVIEWED 1354503 TMEM260 transmembrane protein 260 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; hydralazine 14 14 14 q22.3 37095848 37165589 + 57046509 57116233 + 56579791 56649515 + 6480464;8554872 12477932;14702039;15489334;24831772 54916 B3KN73;F5H7D0;G3V320;G3V4A2;G3V4Y3;H0YJK2;H0YJX9;H0YK00;Q0VAA1;Q9NX78 ABBA01018230;AK000399;AK023885;AK056291;AK293099;AK295989;AK309920;AL161757;AL355103;AMYH02029249;AMYH02029250;BC008949;BC023579;BC045556;BC121163;BC121164;BX647387;CH471061;NM_017799;XM_005267771;XM_006720175;XM_006720176;XM_006720177;XM_006720178;XR_245695 AAI21164;AAI21165;BAA91139;BAF85788;BAG51235;BAG51667;BAG58764;EAW80691;NP_060269;Q9NX78;XP_005267828;XP_006720238;XP_006720239;XP_006720240;XP_006720241 Hs.497253 1341188;1652613;1699318;1736410;2117228;2144243;7185499 D14S66;D14S669E;D14S833;RH103246;RH66316;STS-T03865 C14orf101;FLJ20392 OTTHUMP00000179020;UPF0679 protein C14orf101;hypothetical protein LOC54916 APPROVED protein-coding ENSG00000070269 HGNC:20185 12624 VALIDATED 1345323 TMEM30A transmembrane protein 30A INVOLVED IN drug transmembrane transport; phospholipid translocation; positive regulation of protein exit from endoplasmic reticulum; FOUND IN endoplasmic reticulum; membrane; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene 6 6 6 q14.1 76356050 76388034 - 75962638 75994632 - 75252922 75284916 - 1580863;6480464 12477932;14574404;14702039;15375526;15489334;16344560;17207965;17948906;19322201;19731236;19946888;20510206;21139048;21289302;21454556;21890473;21906983;21914794;21963094;21987572;22505724;22779921;23000965;23269685;24816145;24904167 55754 E5RG19;Q9NV96 AA599967;ABBA01040356;AJ420517;AK001718;AK022883;AK292823;AK293225;AK295567;AL080250;AL162046;AL832490;AL832815;AMYH02013930;BC009006;CH471051;DA217148;DB239737;NM_001143958;NM_018247 AAH09006;ADQ32357;BAA91859;BAF85512;BAG56764;BAG58467;CAB82389;CAH56205;CAH56262;EAW48743;EAW48744;EAW48745;NP_001137430;NP_060717;Q9NV96 Hs.108530 1739659;2139224;2143187;2169418 D6S1531E;HUMHM01G09;RH12901;RH78510 C6orf67;CDC50A;FLJ10856 OTTHUMP00000016751;OTTHUMP00000224702;OTTHUMP00000224746;P4-ATPase flippase complex beta subunit TMEM30A;cell cycle control protein 50A protein-coding ENSG00000112697 HGNC:16667 15535 611028 VALIDATED 1318678 TMEM30B transmembrane protein 30B INVOLVED IN positive regulation of protein exit from endoplasmic reticulum; FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; copper atom 14 14 14 q23.1 41794372 41798814 - 61744088 61748530 - 61277370 61281812 - 6480464 12477932;14702039;15375526;15489334;16344560;20685720;21914794;23251661 161291 Q3MIR4 ABBA01018297;AK091169;AL080078;AL359220;AMYH02029308;BC101726;BC113559;CH471061;DA431345;DA666826;DB220251;DB237714;NM_001017970 AAI01727;AAI13560;BAG52296;EAW80799;NP_001017970;Q3MIR4 Hs.146180 1660658;1675891;5493321 G31464;RH91843;UniSTS:485699 CDC50B;MGC126775 OTTHUMP00000246009;P4-ATPase flippase complex beta subunit TMEM30B;cell cycle control protein 50B protein-coding ENSG00000182107 HGNC:27254 18567 611029 VALIDATED 7343599 TMEM261P1 transmembrane protein 261 pseudogene 1 15 15 15 q11.2 3576494 3577610 - 25412430 25414841 - 25167283 25169694 - 100289059 ABBA01048690;AC124303;AMYH02030094;NG_027714 pseudo HGNC:49128 INFERRED 1349126 TMEM30C transmembrane protein 30C FOUND IN integral component of membrane (inferred); membrane (inferred) 3 3 3 q12.1 98295272 98303634 + 99904668 99913030 + 100185824 100194186 + 15375526;17258408 644444 A0ZSE6;H7C5D7 AB249666;AB250297;ABBA01061795;AC129803;AMYH02007301;NR_028357;NR_028358 A0ZSE6;BAF41210 Hs.652353 CDC50C pseudo ENSG00000235156 HGNC:30443 611030 PROVISIONAL 1322435 TMEM259 transmembrane protein 259 FOUND IN cytoplasm (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; atrazine; benzo[a]pyrene 19 19 19 p13.3 941988 953479 - 1009650 1021173 - 1009651 1021174 - 6480464 12477932;12638133;14702039;15057824;15489334;16084606;16169070;21139048;21903422;21906983;23798571 91304 B3KTL0;Q4ZIN3;U3KPU1;U3KPY4;U3KQQ5 ABBA01002617;AC004528;AK090400;AK095756;AMYH02035131;AY140906;BC008957;BQ895919;CH471139;DQ005958;NM_001033026;NM_033420;XM_005259675;XM_005259676;XM_005259677;XM_005259678;XM_005259679;XR_244044;XR_430159;XR_430160 AAC12681;AAH08957;AAN25597;AAY27747;ABM84150;ABM87553;BAC03381;BAG53122;EAW69571;EAW69572;EAW69573;EAW69574;EAW69575;NP_001028198;NP_219488;Q4ZIN3;XP_005259732;XP_005259733;XP_005259734;XP_005259735;XP_005259736 Hs.515003 1684222;1792580;1792588;2171945 PMC154217P1;PMC154217P5;RH91192;SGC32341 ASBABP1;C19orf6;MBRL;MGC4022;R32184_3 aspecific BCL2 ARE-binding protein 1;membralin APPROVED protein-coding ENSG00000182087 HGNC:17039 12710 611011 VALIDATED 1346804 TMEM31 transmembrane protein 31 FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; amiodarone; cadmium atom X X X q22.2 103404837 103407960 + 102965837 102968960 + 103710909 103714032 + 737633;6480464 12477932 203562 Q5JXX7 ABBA01032873;AK130867;AL049610;AMYH02040171;BC029575;CH471190;CS072437;HC007344;NG_021199;NM_182541 AAH29575;ABM82440;ABM85631;CAI93575;CBH19477;EAW54696;NP_872347;Q5JXX7 Hs.98843 1772733 RH46065 FLJ27357;MGC39655 OTTHUMP00000023759 protein-coding ENSG00000179363 HGNC:28601 06652 VALIDATED 1345227 TMEM35 transmembrane protein 35 FOUND IN cytoplasmic vesicle (inferred); integral component of membrane (inferred); peroxisome (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; levonorgestrel X X X q22.1 100852601 100870122 + 100333836 100351356 + 101078847 101096367 + 6480464 12477932;14702039;15489334;15772651;21832049;8125298;8889548 59353 B4DN33;Q53FP2 ABBA01044939;ABBA01044940;AK024146;AK223240;AK297745;AL109952;AMYH02040063;AMYH02040064;BC050273;BC078658;BU736545;CH471115;NM_021637 AAH50273;AAH78658;BAB14840;BAD96960;BAG60095;EAX02839;NP_067650;Q53FP2 Hs.45140;Hs.714277 2123382 WI-18417 FLJ14084 OTTHUMP00000023663 protein-coding ENSG00000126950 HGNC:25864 06523 VALIDATED 1606154 TMEM37 transmembrane protein 37 ENCODES a protein that exhibits calcium channel activity (inferred); voltage-gated ion channel activity (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); regulation of ion transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 q14.2 113515569 113522221 + 120187501 120196096 + 119430044 119438520 + 6480464 10734232;11738816;12477932;21988832;22632162 140738 C9J1Q8;E7EMC0;Q86SV2;Q8WXS4 ABBA01045925;AC013275;AF361356;AMYH02004648;BC046362;CH471103;DR003856;DR005637;NM_183240;XM_005263598;XM_006712300 AAH46362;AAL50051;AAY14740;EAW95217;EAW95218;NP_899063;Q8WXS4;XP_005263655;XP_006712363 Hs.26216 1684513;2137669 RH69958;RH80535 CACNG5;PR;PR1 OTTHUMP00000203651;neuronal voltage-gated calcium channel gamma-like subunit;voltage-dependent calcium channel gamma subunit-like protein;voltage-dependent calcium channel gamma-like subunit protein-coding ENSG00000171227 HGNC:18216 15536 VALIDATED 1351909 TMEM38A transmembrane protein 38A ENCODES a protein that exhibits cation channel activity (inferred); potassium channel activity (inferred); INVOLVED IN cation transmembrane transport (inferred); monovalent inorganic cation transport (inferred); potassium ion transmembrane transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH diazinon; formaldehyde; methyl methanesulfonate 19 19 19 p13.11 16673777 16701673 + 16771938 16799830 + 16661127 16689019 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;17611541;19056867;19095005;19913121;20628086 79041 M0QYB6;Q9H6F2 ABBA01051153;AC008737;AC024075;AK025981;AK292764;AMYH02035686;BC001195;CH471106;NM_024074 AAH01195;BAB15307;BAF85453;EAW84559;NP_076979;Q9H6F2 Hs.436068 1705096;1756649;2107379 MGC3169__7704;SHGC-143701;SHGC-79965 MGC3169;TRIC-A TRICA;trimeric intracellular cation channel type A protein-coding HGNC:28462 15537 611235 PROVISIONAL 1353146 TMEM33 transmembrane protein 33 FOUND IN extracellular vesicular exosome; melanosome; INTERACTS WITH 5-fluorouracil; copper(2+) sulfate; isotretinoin 4 4 4 p13 42381148 42406836 + 41937137 41962824 + 41935120 41960807 + 737633;1580863;6480464 12477932 14702039;15489334;16196087;17081065;17207965;17215244;17353931;18781797;19615732;21139048;21890473;21906983;21987572;21988832;22178446;23000965;23383273;23464991;23798571;23874603;24332808 55161 D6RAA6;D6RBY2;H0Y8N0;J3KN43;P57088 ABBA01014277;AC106052;AC108210;AF403224;AK001387;AK023062;AK024587;AK056974;AK094190;AK308501;AMYH02009101;AX876972;AY659966;BC000948;BC014384;CH471069;CR457260;NM_018126;XM_005248116;XM_005248117 AAH00948;AAH14384;AAV70491;ADQ31644;BAA91665;BAB14384;BAG52840;CAE89513;CAG33541;EAW92991;EAW92992;EAW92993;EAW92994;NP_060596;P57088;XP_005248173;XP_005248174 Hs.31082 1710866;1797080;2117618;5020635;5022651;5037552 AW629743;D11S2921;D7S3207;D8S2279;SHGC-67902;SHGC-84211 1600019D15Rik;FLJ10525;SHINC3 OTTHUMP00000125225;OTTHUMP00000218395;OTTHUMP00000218396;OTTHUMP00000218397 protein-coding ENSG00000109133 HGNC:25541 07680 VALIDATED 1347417 TMEM38B transmembrane protein 38B This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012] 9 9 9 q31.2 78961966 79042583 + 108456806 108538892 + 105694525 105776611 + 737633;6480464;8554872 12477932 14702039;16196087;17611541;18464913;18978678;19095005;19322201;19448620;20800603;21102462;21139048;21890473;21906983;21963094;22190034;22589738;23054245;23316006;23449627;24250222;8889548 55151 H7C3B3;H7C4C1;Q9NVV0;X6RGH1 ABBA01042813;AK001355;AK309686;AL592437;AL592488;AL627247;AMYH02021399;AMYH02021400;BC000049;BC031938;BU728078;BX112234;CH471105;CR457258;NG_032971;NM_018112;XM_005252075;XM_005252076;XM_005252077;XM_005252078;XR_428531 AAH00049;ADQ32497;BAA91645;CAG33539;EAW59003;EAW59004;NP_060582;Q9NVV0;XP_005252132;XP_005252133;XP_005252134;XP_005252135 Hs.411925;Hs.618078 2112126;2150607 D1S2514;D9S2107 C9orf87;D4Ertd89e;FLJ10493;OI14;RP11-219P18.1;TRIC-B;TRICB;bA219P18.1 OTTHUMP00000021849;OTTHUMP00000021850;trimeric intracellular cation channel type B protein-coding ENSG00000095209 HGNC:25535 15538 611236;615066 REVIEWED 1353039 TMEM39A transmembrane protein 39A FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; benzene; copper atom 3 3 3 q13.33 117558168 117591144 - 119147807 119182529 - 119428960 119463682 - 737633;1580863;6480464 12477932 14702039;17207965;19851296;20007504;20198315;21833088;21906983;21963094;22194214;22464253;24250222;8125298 55254 C9IYN1;C9JUZ6;C9JYN8;C9K0C7;F8WAU1;H7C5P7;Q9NV64 ABBA01061583;ABBA01061584;ABBA01061585;AC074271;AK001764;AK092064;AK222950;AK223248;AMYH02007499;AMYH02007500;AMYH02007501;AX877489;BC003192;BC010070;BC021277;CH471052;CQ834350;NM_018266;NR_073506;XM_005247577;XM_005247578;XM_006713687 AAH03192;AAH21277;ADQ32654;BAA91893;BAD96670;BAD96968;CAE89749;CAH05390;EAW79571;EAW79572;NP_060736;Q9NV64;XP_005247634;XP_005247635;XP_006713750 Hs.594171 1652753;1856619;1857149;2114548;2128383 D3S4255;G30213;SHGC-77219;SHGC-77244;SHGC-77252 FLJ10902 OTTHUMP00000215061 protein-coding ENSG00000176142 HGNC:25600 07713 VALIDATED 1343546 TMEM40 transmembrane protein 40 FOUND IN integral component of membrane (inferred); INTERACTS WITH 3,4-dichloroaniline; 5-fluorouracil; aflatoxin B1 3 3 3 p25.2 12713693 12739109 - 12775392 12801038 - 12733530 12769457 - 737633;6480464 12477932 12665801;14702039;15489334;17192395 55287 B4DXI0;H7BZY7;Q8WWA1 ABBA01025191;ABBA01025192;AC034198;AI452552;AK001898;AK092470;AK301984;AMYH02006298;AMYH02006299;BC020658;BG335433;CH471055;NM_001284406;NM_001284407;NM_001284408;NM_018306;XM_006713249 AAH20658;BAA91967;BAC03898;BAG63392;EAW64138;EAW64139;EAW64140;NP_001271335;NP_001271336;NP_001271337;NP_060776;Q8WWA1;XP_006713312 Hs.475502 FLJ11036 OTTHUMP00000160232;OTTHUMP00000207910;OTTHUMP00000207911;OTTHUMP00000207912 protein-coding ENSG00000088726 HGNC:25620 08559 VALIDATED 1348470 TMEM42 transmembrane protein 42 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; 5-aza-2'-deoxycytidine 3 3 3 p21.31 44841374 44845122 + 44903408 44907156 + 44861916 44865664 + 737633;1580863;6480464 12477932 131616 Q69YG0 ABBA01024735;AC098649;AL834253;AMYH02006651;BC019851;CH471055;NM_144638 AAH19851;CAH10689;EAW64725;EAW64726;NP_653239;Q69YG0 Hs.646856 2148495 SHGC-76889 MGC29956 OTTHUMP00000164122 protein-coding ENSG00000169964 HGNC:28444 15540 PROVISIONAL 1352042 TMEM41A transmembrane protein 41A ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; cyclosporin A 3 3 3 q27.2 183652912 183662367 - 185207389 185216845 - 185489601 185499057 - 737633;6480464;8554872 12477932 12975309;14702039;15342556;15489334;21890473 90407 F8WDE2;H7BXL1;Q96HV5 ABBA01058419;AC099661;AK172748;AK290878;AK313954;AL832782;AMYH02008326;AY358547;BC008043;BC019884;BP274550;BX647128;BX647928;CH471052;NM_080652 AAH08043;AAH19884;AAQ88911;ACE86641;ACE87323;BAD18735;BAF83567;EAW78219;EAW78220;EAW78221;EAW78222;EAW78223;NP_542383;Q96HV5 Hs.677570;Hs.692209 1685646;1689949;2107361;2118773;2158664;2177665;2179897;5015619;5037552 D11S3114;D8S2279;MGC15397__7672;RH46339;RH80449;RH93790;SHGC-77628;STS-W72274;WI-21163 2900010K02Rik;DKFZp686N06149;DKFZp686N107;MGC15397 OTTHUMP00000210355 protein-coding ENSG00000163900 HGNC:30544 15539 VALIDATED 1347999 TMEM41B transmembrane protein 41B INVOLVED IN nervous system development (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (S)-nicotine; benzo[a]pyrene diol epoxide I; cyclosporin A 11 11 11 p15.4 9423459 9457551 - 9302201 9336315 - 9280654 9314768 - 6480464 12477932;16344560;19322201;21139048;21890473;21906983;24250222;24457600;7584026;7584028;8889549 440026 E9PJ42;Q5BJD5 ABBA01061193;ABBA01061194;ABBA01061195;ABBA01061196;AC055845;AK303339;AMYH02024309;BC035034;BC044597;BC064366;BC091524;BE673436;BI596931;BI829492;BU752757;CH471064;D26067;DA149513;DR157551;N54391;NM_001165030;NM_015012;NR_028491 AAH35034;AAH44597;AAH91524;BAA05062;BAG64402;EAW68594;EAW68595;EAW68596;EAW68597;EAW68598;NP_001158502;NP_055827;Q5BJD5 Hs.594563;Hs.731960 1671762;1680625;1686720;2117015;2122752;2149348;2157462;5015619;5015861;5022651;5024761;5037552;5109281;7185938 D10S16;D11S2268E;D11S2390;D11S2921;D11S3114;D1S1425;D8S2279;RH17400;RH25271;RH36905;RH46487;RH94006;SHGC-53040 KIAA0033;MGC33897;MGC57262 OTTHUMP00000230821;OTTHUMP00000230822;OTTHUMP00000230864;OTTHUMP00000230865;OTTHUMP00000230866 protein-coding ENSG00000166471 HGNC:28948 18632 VALIDATED 6892836 TMEM44-AS1 TMEM44 antisense RNA 1 3 3 3 q29 192720406 192726645 + 194304997 194311561 + 194584268 194590832 + 10737800;12477932;16344560;8889548 100507297 ABBA01001626;AC046143;AMYH02008455;BC061632;BE071707;BI088778;BM717338;BU620456;BU741601;DB295401;HG496526;HG496527;HG496528;NR_047573;NR_047574;NR_047575 Hs.586059 1681288;2184293 RH92518;STS-R85813 AC046143.5 APPROVED ncrna HGNC:44272 VALIDATED 1344878 TMEM44 transmembrane protein 44 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 3,3',5-triiodo-L-thyronine; 5-aza-2'-deoxycytidine 3 3 3 q29 192723780 192769496 - 194308402 194354150 - 194587673 194633644 - 737633;6480464;8554872 12477932 20031603;21900206 93109 C9IZ85;F8WCY1;F8WE47;H7C3X7;J3KQW3;Q2T9K0;Q6PL43 ABBA01001625;ABBA01001626;AC046143;AI640920;AK126914;AL547748;AL833026;AMYH02008455;AY303778;AY597813;BC007772;BC014883;BC034353;BC039506;BC111485;BC130297;BC144158;BC144159;BU521517;BU850042;BX419619;BX647418;CF265142;CH471052;NM_001011655;NM_001166305;NM_001166306;NM_138399;XM_005269371;XM_005269372;XM_005269373;XM_006713823;XM_006713824 AAH07772;AAH14883;AAH34353;AAI11486;AAI30298;AAI44159;AAI44160;AAP76183;AAT09006;ADR82995;BAC86747;CAH56264;EAW78040;EAW78041;EAW78042;EAW78043;EAW78044;NP_001011655;NP_001159777;NP_001159778;NP_612408;Q2T9K0;XP_005269428;XP_005269429;XP_005269430;XP_006713886;XP_006713887 Hs.478729 1648650;1681288;1739579;1762701;2184293;5022200 D19S841;L18426;RH47763;RH92518;SHGC-146495;STS-R85813 DKFZp686O18124;MGC131692;MGC163169 OTTHUMP00000209076;OTTHUMP00000209077;OTTHUMP00000209083;OTTHUMP00000209084;OTTHUMP00000214719 protein-coding ENSG00000145014 HGNC:25120 14297 VALIDATED 1344791 TMEM45A transmembrane protein 45A ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 3 3 3 q12.2 98602607 98687498 + 100211463 100296297 + 100492619 100577453 + 737633;6480464;8554872 12477932 14702039;15489334;17207965;21139048;21890473;21963094;21987572;22954140;23000965;24689342 55076 C9J9Z5;J3KQ06;Q9NWC5 AB013911;ABBA01061788;AC128693;AK000996;AK129789;AMYH02007304;AY450392;BC040355;CH471052;JB984271;NM_018004;XM_005247568;XM_005247569 AAH40355;AAR21085;ADQ31583;BAA91458;BAB87801;CDL78940;EAW79819;EAW79820;NP_060474;Q9NWC5;XP_005247625;XP_005247626 Hs.658956 1680928;1686945;1740247;2112760 D3S3010;D3S4447;RH76527;RH92609 DERP7;FLJ10134 DNA polymerase-transactivated protein 4;OTTHUMP00000197052;OTTHUMP00000197053;dermal papilla derived protein 7;dermal papilla-derived protein 7 protein-coding ENSG00000181458 HGNC:25480 07647 PROVISIONAL 1351966 TMEM39B transmembrane protein 39B FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 1 1 1 p35.1 30808405 30838369 + 32538503 32568467 + 32072899 32102866 + 737633;6480464 12477932 11230166;14702039;16169070;16196087;16710414;21890473;21988832 55116 F8WB89;Q5VVU5;Q9BT39;Q9GZU3;Q9NW51 ABBA01023440;ABBA01023441;ABBA01023442;ABBA01023443;AK001177;AK023331;AK091861;AK296653;AK298766;AK300293;AL136695;AL445248;AMYH02000701;AMYH02000702;AMYH02000703;AX876163;BC004364;CH471059;CQ834402;CR457311;CR533536;NM_018056;XM_005270988;XM_005270989;XM_006710724;XM_006710725 AAH04364;ADZ15841;BAA91535;BAB14530;BAG52431;BAG59250;BAG60908;BAG62050;CAB66630;CAE89150;CAG33592;CAG38567;CAH05416;EAX07570;EAX07571;EAX07572;EAX07573;NP_060526;Q9GZU3;XP_005271045;XP_005271046;XP_006710787;XP_006710788 Hs.25544 1771712;2176359;5020948;5109281 D1S1425;G35510;SHGC-74537;WI-17488 FLJ10315;RP11-277A4.3 OTTHUMP00000004146 protein-coding ENSG00000121775 HGNC:25510 07662 VALIDATED 1348900 TMEM43 transmembrane protein 43 This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008] 3 3 3 p25.1 14104747 14123487 + 14166440 14185180 + 14124940 14143680 + 737633;1579676;6480464;7240710;8554872;8699517 10631146;12477932 11076863;11230166;11256614;11593002;12975309;14702039;15489336;16169070;16303743;16344560;16381901;17110338;18230648;18313022;19863551;20010364;20301310;20379614;21139048;21214875;21320693;21391237;21890473;21963094;22190034;22458570;22678362;22725725;22939629;23161701;23788249;23812740;24250222;24778252;24816145;8125298;9860777 79188 F8WDL3;Q9BTV4 ABBA01025161;AC090004;AF086408;AK027466;AK027757;AK027827;AK027877;AK074073;AK075010;AK225589;AL136916;AMYH02006318;AY358625;BC003125;BC008054;BC011719;CH471055;DA259919;NG_008975;NM_024334 AAH03125;AAH08054;AAH11719;AAQ88988;BAB55131;BAB55348;BAB55396;BAB55425;BAB84899;BAC11350;CAB66850;CAL38038;EAW64184;EAW64185;EAW64186;EAW64187;NP_077310;Q9BTV4 Hs.517817 1337638;1338596;1662522;1663904;1671229;1686308;1735302;2175580;5109445 D3S1255;D3S2338;D3S2941E;D3S3613;D3S3920;D3S3995;RH26794;SHGC-30498;SHGC-76725 ARVC5;ARVD5;DKFZp586G1919;EDMD7;LUMA;MGC3222 OTTHUMP00000160233;arrhythmogenic right ventricular dysplasia 5 APPROVED protein-coding ENSG00000170876 HGNC:28472 15541 604400;612048;614302 REVIEWED 1348060 TMEM45B transmembrane protein 45B ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 11 11 11 q24.3 126853871 126898054 + 129685732 129729898 + 129815841 129860003 + 737633;6480464;8554872 12477932 14702039;15489334;19773279;20379614;21103663;21988832;22238593;22383897;23251661 120224 Q96B21 ABBA01023022;AK098106;AK290283;AK292058;AMYH02025778;AMYH02025779;AP003327;AX118953;BC016153;CH471065;NM_138788;XM_005271400;XM_005271401 AAH16153;ACT64573;ACT64574;BAC05235;BAF82972;BAF84747;CAC38550;EAW67747;EAW67748;EAW67749;EAW67750;EAW67751;NP_620143;Q96B21;XP_005271457;XP_005271458 Hs.504301 1649922;1737297;2168490;2175338;2187668;5022200;5037552 D11S1153;D11S3161;D8S2279;L18426;RH35926;RH48150;SHGC-35184 FLJ40787 OTTHUMP00000230899;OTTHUMP00000230900 protein-coding ENSG00000151715 HGNC:25194 14020 PROVISIONAL 1319660 TMEM5 transmembrane protein 5 This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 12 12 12 q14.2 63838644 63867894 + 64173583 64203338 + 63779803 63809558 + 1580863;6480464;8699517;7240710;8554872 10072769;12477932;15489334;20379614;21988832;23217329;23519211 10329 F5GXF8;G3V1K2;Q9Y2B1 AB015633;ABBA01026619;ABBA01026620;AC084357;AI458269;AK289382;AMYH02026650;BC002596;BC013152;BM547839;BX647105;BX647419;CH471054;NG_033244;NM_001278237;NM_014254;XM_005268562;XM_005268563;XM_006719195;XM_006719196 AAH02596;AAH13152;ABM82003;ABM85185;BAA76500;BAF82071;EAW97120;EAW97121;NP_001265166;NP_055069;Q9Y2B1;XP_005268619;XP_005268620;XP_006719258;XP_006719259 Hs.216386;Hs.716859 1683036;1687263;2151390 RH77947;RH80375;RH98695 HP10481;MDDGA10 OTTHUMP00000239316;putative type II membrane protein;type II membrane protein protein-coding ENSG00000118600 HGNC:13530 12057 605862;615041 REVIEWED 1343840 TMEM47 transmembrane protein 47 This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008] X X X p11.4 38772420 38802641 - 34645181 34675405 - 34627064 34657288 - 68668;1580863;6480464;8554872 11472633 11076863;11230166;11256614;12477932;14702039;15345028;15489334;15489336;15772651;16381901;18056173;21881001;23412934 83604 Q9BQJ4 ABBA01073400;ABBA01073401;ABBA01073402;AK090917;AK311054;AL049257;AL136550;AL596285;AMYH02039157;BC039242;CH471074;CX788638;NM_031442 AAH39242;CAB66485;CAL37622;EAW99070;EAW99071;NP_113630;Q9BQJ4 Hs.8769 1338098;1672585;1702332;1702462;1716555;1718393;1749605;1751925;1751935;1755367;1781184;1787232;1787242;1787422;1794174;1850821;2069528;2133093;2134205;2137186;2138538;2153561;2158531;2162824;2166381;2171470;2194252 DXS1049;DXS1182;DXS1339;DXS1382;DXS7653;DXS7790;DXS8190;DXS8192;GDB:313823;L77275;PMC310823P13;REN105954;RH121622;RH122971;RH67914;SHGC-105886;SHGC-105900;SHGC-111287;SHGC-112103;SHGC-132877;SHGC-142248;SHGC-54257;SHGC-83503;STS-N41007;STS-T48038;stFSX915;stSG614592 BCMP1;DKFZp564E153;DKFZp761J17121;FLJ18096;MGC32949;TM4SF10 OTTHUMP00000023130;brain cell membrane protein 1;transmembrane 4 superfamily member 10 APPROVED protein-coding ENSG00000147027 HGNC:18515 06741 300698 REVIEWED 2304154 TMEM51-AS1 TMEM51 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol 1 1 1 p36.21 13921222 13961847 - 15438311 15478960 - 15111815 15152464 - 6480464;8554872 12477932;14702039;16710414 200197 ABBA01004718;AK074283;AK124431;AL035405;AMYH02000352;BC128126;BC128127;CH471167;LN607845;LN607846;NR_027136 BAB85035;BAG54037;EAW51708;EAW51709 Hs.531424 1686372;1777098 G16265;RH93212 C1orf126;FLJ23703;RP1-21O18.2 APPROVED ncrna ENSG00000175147 HGNC:26301 08673 VALIDATED 1602878 TMEM51 transmembrane protein 51 FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; benzo[a]pyrene diol epoxide I 1 1 1 p36.21 13961915 14029876 + 15479028 15546974 + 15152532 15220478 + 6480464 12477932;14702039;15342556;15489334;16169070;16710414;20379614 55092 B1AP03;Q9BSA0;Q9NW97 ABBA01004717;ABBA01004718;AK001061;AK098467;AK129922;AK292184;AL035405;AL391094;AL525184;AMYH02000352;AMYH02000353;AX875942;BC000202;BC000593;BC005177;BM310196;BP275401;CH471167;CR457120;DC295166;DC345032;NM_001136216;NM_001136217;NM_001136218;NM_018022;XM_005245919;XM_006710722 AAH00202;AAH00593;AAH05177;ADZ16105;BAA91486;BAF84873;CAE89065;CAG33401;EAW51710;EAW51711;EAW51712;EAW51713;EAW51714;NP_001129688;NP_001129689;NP_001129690;NP_060492;Q9NW97;XP_005245976;XP_006710785 Hs.465305 1698296;1732796;1732980;1764463;1779382;2132189 D1S1253;D1S1359;G30992;RH102685;SHGC-148066;SHGC-153372 C1orf72;FLJ10199 OTTHUMP00000002031;OTTHUMP00000002032;OTTHUMP00000070983;OTTHUMP00000070984 protein-coding ENSG00000171729 HGNC:25488 07651 VALIDATED 1606813 TMEM50A transmembrane protein 50A This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 23984779 24008822 - 25664789 25688852 + 25338298 25362361 + 6480464 10845894;10938938;11076863;11230166;11256614;11902138;12477932;12975309;15231747;15489334;15489336;16094384;16169070;16381901;21700265;21906983;21963094;21987572;22505724 23585 B7Z5M7;O95807;Q7RU07 ABBA01059930;ABBA01059931;ABBA01059932;AC247058;AF081282;AF087880;AF458851;AI968279;AK299180;AK311092;AK311355;AK312588;AL136627;AL928711;AY071927;AY358650;BC007341;BC066908;BN000065;BX537683;CH471134;CX867650;JX644905;JX644906;NM_014313;XM_005245817 AAD17754;AAH07341;AAH66908;AAL51108;AAL61545;AAP97180;AAQ89013;AGB55904;AGB55905;BAG35482;BAH12963;CAB66562;CAD29849;CAL37465;CAL37763;CAL37858;EAW95168;EAW95169;NP_055128;O95807;XP_005245874 Hs.705699 1658277;1853859;2154369;2180706;5016478;5020740;5037552;5116670 A002S18;D8S2279;GDB:434012;L17809;RH11830;SHGC-74433;WI-18360;sY3122 IFNRC;RP11-335G20.3;SMP1 OTTHUMP00000008981;cervical cancer oncogene 9;small membrane protein 1 APPROVED protein-coding ENSG00000183726 HGNC:30590 05636 605348 REVIEWED 1606983 TMEM52B transmembrane protein 52B FOUND IN extracellular vesicular exosome; INTERACTS WITH valproic acid 12 12 12 p13.2 15492222 15505070 + 10331557 10344403 + 10170599 10191804 + 6480464 12477932;12975309;14702039;16344560;19056867;19322201 120939 F5H230;Q4KMG9 ABBA01067796;ABBA01067797;ABBA01067798;AC024224;AC115676;AK055728;AMYH02026023;AMYH02026024;AX083393;AY358845;BC098571;BC131523;BE301029;CH471094;DA156941;DA621425;NM_001079815;NM_153022;XM_005253299;XM_006719029 AAH98571;AAI31524;AAQ89204;BAB70998;CAC33296;EAW96162;EAW96163;NP_001073283;NP_694567;Q4KMG9;XP_005253356;XP_006719092 Hs.226422 1672095;1736874 D12S1275;WI-11901 C12orf59;FLJ31166;MGC111385 OTTHUMP00000238737;OTTHUMP00000238738;hypothetical protein LOC120939;uncharacterized protein C12orf59 APPROVED protein-coding ENSG00000165685 HGNC:26438 08709 VALIDATED 1603246 TMEM52 transmembrane protein 52 FOUND IN integral component of membrane (inferred); INTERACTS WITH copper atom; copper(0); copper(2+) sulfate 1 1 1 p36.33 744314 746025 + 1849029 1850740 - 1917590 1919301 - 6480464 12975309;15146197;24250222 339456 B1AKR2;B1AKR3;Q8NDY8;R4GMU3 ABBA01016077;AJ278736;AL109917;AMYH02000112;AW083128;AY358544;CH471183;CN263898;NM_178545 AAQ88908;ACT64393;ACT64394;CAC82104;EAW56142;EAW56143;NP_848640;Q8NDY8 Hs.123423 OTTHUMP00000001118 protein-coding ENSG00000178821 HGNC:27916 14166 VALIDATED 1606187 TMEM54 transmembrane protein 54 FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; atrazine 1 1 1 p35-p34 31628831 31635588 - 33360196 33367041 - 32894595 32901440 - 6480464 11394883;12477932;15489334;19829063;20467438;21988832;22982681;9500206 113452 Q969K7 AB012692;ABBA01023392;AC114493;AMYH02000723;AY027543;AY359883;BC001418;BC013953;BC020497;BC023260;CH471059;NM_033504;XM_005270408 AAH01418;AAH13953;AAH23260;AAK13050;AAQ64021;BAA87335;EAX07492;EAX07493;NP_277039;Q969K7;XP_005270465 Hs.534521 1656138;1730253;2186531 D1S285E;RH15950;SHGC-32985 BCLP;CAC-1;CAC1;MGC10137 OTTHUMP00000004136;OTTHUMP00000004137;beta-casein-like protein protein-coding ENSG00000121900 HGNC:24143 12524 PROVISIONAL 1603008 TMEM53 transmembrane protein 53 FOUND IN nucleus; INTERACTS WITH aflatoxin B1; ciglitazone; cyclosporin A 1 1 1 p34.1 43402390 43422988 - 45118920 45140253 - 44653248 44674579 - 6480464 12477932;12958361;17207965;18029348;21832049;24250222;8125298 79639 B4DI10;Q5TDE2;Q5TDE3;Q5TDE4;Q5TDE5;Q5TDE6;Q6P2H8 AA490195;ABBA01050918;AK026006;AK225405;AK295356;AK296548;AK310016;AL122004;AL832539;AMYH02000918;BC007521;BC064520;BM675039;BM806701;CH471059;CR457348;HY029536;HY108001;NM_001300746;NM_001300747;NM_001300748;NM_024587;XM_005271194;XM_005271195;XM_005271196;XR_425151;XR_426681;XR_431157 AAH64520;ADQ32534;BAB15317;BAG58322;BAG59172;CAG33629;CAI46125;EAX07028;EAX07029;EAX07030;NP_001287675;NP_001287676;NP_001287677;NP_078863;Q6P2H8;XP_005271251;XP_005271252;XP_005271253 Hs.22157 1663560;1846570;1852541;1852678;2183153 AL009826;SHGC-74682;SHGC-74702;SHGC-74710;WI-18517 FLJ22353;NET4;RP4-678E16.2 OTTHUMP00000009540;OTTHUMP00000009544;OTTHUMP00000009545;novel DUF829 domain-containing protein protein-coding ENSG00000126106 HGNC:26186 07989 VALIDATED 1602110 TMEM55A transmembrane protein 55A TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008] 8 8 8 q21.3 88201253 88248229 - 92006499 92053203 - 90994271 91040975 - 6480464 12477932;15489334;16344560;16365287;17207965;19953087;20164180;21139048;22505724 55529 E5RFT4;E5RIP9;E5RIY0;E5RJC2;Q8N4L2 ABBA01037413;ABBA01037414;AC087439;AK313783;AL359591;AMYH02018397;AMYH02018398;AX775961;BC033892;CH471060;CR749733;DA171968;NM_018710;XM_006716598 AAH33892;ADQ31835;BAG36521;CAE11680;CAH18492;EAW91672;EAW91673;NP_061180;Q8N4L2;XP_006716661 Hs.202517 1653015;1657019;1657021;1697814;2173591 D20S201;D8S1146;RH102431;SHGC-36796;WI-16423 DKFZp762O076 OTTHUMP00000225591;OTTHUMP00000225593;OTTHUMP00000225594;PtdIns-4,5-P(2) 4-phosphatase type II;ptdIns-4,5-P2 4-Ptase II;type 2 PtdIns-4,5-P2 4-Ptase;type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase;type II phosphatidylinositol 4,5-bisphosphate 4-phosphatase APPROVED protein-coding ENSG00000155099 HGNC:25452 13233 609864 VALIDATED 1316828 TMEM50B transmembrane protein 50B ASSOCIATED WITH Interferon gamma, receptor 1, deficiency (inferred); Melanoma (inferred); FOUND IN endoplasmic reticulum; plasma membrane; INTERACTS WITH all-trans-retinoic acid; cisplatin; copper atom 21 21 21 q22.11 20011535 20051915 - 34804793 34852316 - 33432486 33480009 - 6480464;8554872 10077530;10830953;11256614;12477932;12975309;15489334;16344560;16780588;17567994;23128233;8889548 757 C9K0I4;F8WBF4;F8WDH1;P56557 ABBA01057342;ABBA01057343;ABBA01057344;ABBA01057345;AC207981;AF039906;AF045606;AF086280;AK129657;AK309977;AK310701;AK311870;AL355685;AMYH02037737;AMYH02037738;AMYH02037739;AMYH02037740;AP000300;AP000301;AP000302;AY358634;AY820138;BC000569;BF696480;BM152475;CB306801;CH471079;DA286739;DQ286229;DQ656043;NG_007570;NM_006134;NR_040016 AAC05090;AAC05974;AAH00569;AAQ88997;AAV68502;ABB91377;BAC85209;BAG34811;EAX09832;EAX09833;NP_006125;P56557 Hs.433668;Hs.655101 1679966;1685139;1711976;1735042;1752269;1759869;1759901;1767264;1808322;1810610;1811142;1815408;1819990;1820340;1820774;1820980;1823050;1825342;1827138;1829298;1829452;1832116;1836134;1836404;1837022;1837598;1841368;1844760;2028456;2028458;2028460;2028462;2028464;2028466;2028468;2028470;2028588;2028590;2028592;2028594;2028596;2028598;2028600;2028602;2028604;2028606;2028608;2028610;2028612;2028614;2028616;2028618;2028620;2028622;2028624;2028626;2028628;2028630;2028632;2028634;2028636;2028638;2028640;2028642;2028644;2028646;2028648;2028650;2028652;2028654;2028656;2028658;2028660;2028662;2028664;2028666;2028668;2028670;2028672;2028674;2028676;2028678;2028680;2028682;2028684;2028686;2028688;2028690;2028692;2028694;2028696;2028698;2028700;2028702;2028704;2028706;2028708;2028710;2028712;2028714;2028716;2028718;2028720;2028722;2028724;2028726;2028728;2028730;2028732;2028734;2028736;2028738;2028740;2028742;2028744;2028746;2028748;2028750;2028752;2028754;2028756;2028758;2028760;2028762;2028764;2028766;2028768;2028770;2028772;2028774;2028776;2028778;2028780;2028782;2028784;2028786;2028788;2028790;2028792;2028794;2028796;2028798;2028800;2028802;2028804;2028806;2028808;2028810;2028812;2028814;2028816;2028818;2028820;2028822;2028824;2028826;2028828;2028830;2028832;2028834;2028836;2028838;2028840;2028842;2028844;2028846;2028848;2028850;2101222;2101242;2101244;2101246;2101248;2101250;2101252;2101254;2101256;2101258;2101260;2101262;2101264;2101266;2101268;2101270;2101272;2101274;2101276;2101278;2101280;2101282;2173272 D21S1733E;ECD05142;ECD06298;ECD06569;ECD08740;ECD11066;ECD11245;ECD11462;ECD11566;ECD12613;ECD13777;ECD14684;ECD15778;ECD15857;ECD17196;ECD19228;ECD19364;ECD19675;ECD19966;ECD21880;ECD23595;REN85232;REN85233;REN85234;REN85235;REN85236;REN85237;REN85238;REN85239;REN85298;REN85299;REN85300;REN85301;REN85302;REN85303;REN85304;REN85305;REN85306;REN85307;REN85308;REN85309;REN85310;REN85311;REN85312;REN85313;REN85314;REN85315;REN85316;REN85317;REN85318;REN85319;REN85320;REN85321;REN85322;REN85323;REN85324;REN85325;REN85326;REN85327;REN85328;REN85329;REN85330;REN85331;REN85332;REN85333;REN85334;REN85335;REN85336;REN85337;REN85338;REN85339;REN85340;REN85341;REN85342;REN85343;REN85344;REN85345;REN85346;REN85347;REN85348;REN85349;REN85350;REN85351;REN85352;REN85353;REN85354;REN85355;REN85356;REN85357;REN85358;REN85359;REN85360;REN85361;REN85362;REN85363;REN85364;REN85365;REN85366;REN85367;REN85368;REN85369;REN85370;REN85371;REN85372;REN85373;REN85374;REN85375;REN85376;REN85377;REN85378;REN85379;REN85380;REN85381;REN85382;REN85383;REN85384;REN85385;REN85386;REN85387;REN85388;REN85389;REN85390;REN85391;REN85392;REN85393;REN85394;REN85395;REN85396;REN85397;REN85398;REN85399;REN85400;REN85401;REN85402;REN85403;REN85404;REN85405;REN85406;REN85407;REN85408;REN85409;REN85410;REN85411;REN85412;REN85413;REN85414;REN85415;REN85416;REN85417;REN85418;REN85419;REN85420;REN85421;REN85422;REN85423;REN85424;REN85425;REN85426;REN85427;REN85428;REN85429;RH118439;RH80707;RH93313;SHGC-106201;SHGC-170109;SHGC-170293;SHGC-87557;STS-AA031780;stSG607163;stSG607176;stSG607177;stSG607178;stSG607179;stSG607181;stSG607182;stSG607183;stSG607184;stSG607185;stSG607186;stSG607187;stSG607188;stSG607189;stSG607190;stSG607191;stSG607192;stSG607193;stSG607194;stSG607196;stSG607197;stSG607198 C21orf4;DKFZp686C2482;FLJ26146;HCVP7TP3 HCV p7-trans-regulated protein 3;HCV p7-transregulated protein 3;OTTHUMP00000067860;OTTHUMP00000199740;chromosome 21 open reading frame 4 protein-coding ENSG00000142188 HGNC:1280 10747 VALIDATED 1316692 TMEM55B transmembrane protein 55B TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008] 14 14 14 q11.2 787162 790787 - 20926012 20929637 - 20457853 20461612 - 6480464 11076863;12477932;15489334;15489336;16365287;16381901;17940011;21139048;22190034;22505724;24250222 90809 G3V3P3;G3V5T5;H0YJ90;Q86T03 ABBA01061230;AK314021;AL137727;AL355075;AMYH02028824;BC002867;BC020947;BX161490;BX248025;CA430067;CH471078;NM_001100814;NM_144568 AAH02867;AAH20947;BAG36732;CAB70896;CAD61939;CAD62347;CAL37623;EAW66460;EAW66461;EAW66462;NP_001094284;NP_653169;Q86T03 Hs.7001 2170932;2174947;2186296 D2S2636;SHGC-36712;WI-18729 C14orf9;DKFZp434M0519;MGC26684 OTTHUMP00000163982;OTTHUMP00000163983;PtdIns-4,5-P(2) 4-phosphatase type I;ptdIns-4,5-P2 4-Ptase I;type 1 PtdIns-4,5-P2 4-Ptase;type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase;type I phosphatidylinositol 4,5-bisphosphate 4-phosphatase APPROVED protein-coding ENSG00000165782 HGNC:19299 12660 609865 VALIDATED 1602981 TMEM56 transmembrane protein 56 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; all-trans-retinoic acid 1 1 1 p21.3 93837320 93917579 + 95582894 95663163 + 95117338 95197607 + 6480464 12477932;14702039;19322201;20379614;23362303;8889548 148534 C9J6J2;C9JJM2;Q96MV1 ABBA01045499;ABBA01045500;ABBA01045501;AC092802;AC095033;AK056404;AK126344;AMYH02001514;BC019700;BC108263;BC137457;BC137458;BC139737;BE466427;BQ575814;BU683936;BX537731;CH471097;NM_001199679;NM_152487 AAI37458;AAI37459;AAI39738;BAB71177;EAW73024;EAW73025;NP_001186608;NP_689700;Q96MV1 Hs.483512 1650806;1655957;1697004;1699324;1724199;1727723;1772553;1789020;1856940;5024761 G63126;G65643;RH101976;RH103249;RH121235;RH36905;RH78182;SHGC-30950;SHGC-53700;SHGC-75181 FLJ31842;MGC102912 OTTHUMP00000012540;OTTHUMP00000012541;OTTHUMP00000012542 protein-coding ENSG00000152078 HGNC:26477 08110 VALIDATED 1605378 TMEM57 transmembrane protein 57 INVOLVED IN brain development (inferred); FOUND IN neuron projection terminus (ortholog); nuclear membrane (ortholog); nucleus (ortholog); INTERACTS WITH (-)-demecolcine; 2-methylcholine; atrazine 1 1 1 p36.11 24155217 24224253 + 25757388 25826700 + 25430858 25500209 + 6480464 12459264;12477932;14702039;15231748;15255972;15489334;19060911;19913121;20628086;20686565;21139048;21700265;21890473;21963094;23000965;24097068 55219 Q8N5G2;Q9H5V1 AA827805;ABBA01059935;ABBA01059936;AK001609;AK311472;AL031284;AMYH02000541;AY845015;AY845035;AY845036;BC007687;BC020801;BC032427;BX572623;CH471059;DB455940;NM_001282564;NM_018202;XM_005245931 AAH32427;AAX11913;AAX11933;AAX11934;BAA91786;EAX07876;EAX07877;EAX07878;NP_001269493;NP_060672;Q8N5G2;XP_005245988 Hs.189782 1659557;1660635;1692730;1701114;1733158;1856541;2115237;2142224;2189541 AL009656;AL034134;D1S1466;D6S1937;RH104185;RH36334;SHGC-56764;SHGC-74431;UniSTS:235065 FLJ10747;FLJ23007;RP3-469D22.2 OTTHUMP00000003535;macoilin protein-coding ENSG00000204178 HGNC:25572 13340 610301 VALIDATED 1321145 TMEM59 transmembrane protein 59 ENCODES a protein that exhibits endopeptidase activity (inferred); INVOLVED IN negative regulation of establishment of protein localization to plasma membrane; negative regulation of protein glycosylation in Golgi; negative regulation of protein processing; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; Golgi cis cisterna; Golgi medial cisterna; INTERACTS WITH cobalt dichloride; ethyl methanesulfonate; formaldehyde 1 1 1 p32.3 52785013 52806776 - 54497346 54519135 - 54031673 54053462 - 1298632;6480464;8554872 9653160 11042152;12477932;12975309;14702039;15489334;16303743;16710414;18781797;19056867;19322201;20379614;20427278;21139048;21875946;21890473;21906983;21963094;21987572;22053931;22451312;22505724;23000965;23376921;25015289;8125298 9528 D3DQ48;Q5T6Z8;Q5T703;Q5T704;Q5T706;Q9BXS4 ABBA01074729;AF047439;AF290615;AK075187;AK075505;AK123445;AK124967;AK225624;AL353898;AMYH02001045;AX775907;AX775909;AY359029;BC003106;BC016374;BC062738;BC095464;CH471059;CQ783271;CS051337;KF495954;NM_004872;XM_005271350;XM_005271351;XM_006711051 AAC39890;AAH03106;AAH16374;AAH62738;AAH95464;AAK28026;AAQ89388;ADZ16012;BAC11658;BAG52079;CAE11653;CAE11654;CAF86476;CAI72163;EAX06704;EAX06705;EAX06706;EAX06707;EAX06708;EAX06709;EAX06710;EAX06711;NP_004863;Q9BXS4;XP_005271407;XP_005271408;XP_006711114 Hs.523262 1645328;1779147;2120094;2182175;5014003;5022578;5022649;5022651;5037552 D11S2875;D11S2921;D17S1136;D1S1423;D8S2279;SGC33632;SHGC-57881;SHGC-74842;SHGC-74862 C1orf8;FLJ42977;HSPC001 OTTHUMP00000010111;OTTHUMP00000010118;chromosome 1 open reading frame 8;liver membrane-bound protein protein-coding ENSG00000116209 HGNC:1239 12731 PROVISIONAL 1344846 TMEM6 transmembrane protein 6 64731 HGNC:14166 1604209 TMEM61 transmembrane protein 61 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; atrazine; diazinon 1 1 1 p32.3 53734069 53745570 + 55446271 55457966 + 54980599 54992293 + 6480464;8554872 12477932;15489334;16710414;17207965 199964 Q8N0U2 ABBA01074705;AL590440;AMYH02001062;BC029775;CH471059;NM_182532;XM_005270586 AAH29775;ADQ32413;EAX06662;NP_872338;Q8N0U2;XP_005270643 Hs.663950 1677294 RH93772 OTTHUMP00000011687 protein-coding ENSG00000143001 HGNC:27296 14121 PROVISIONAL 7407592 TMEM56-RWDD3 TMEM56-RWDD3 readthrough This locus represents naturally occurring read-through transcription between the neighboring TMEM56 (transmembrane protein 56) and RWDD3 (RWD domain containing 3) genes on chromosome 1. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but it contains a distinct C-terminus due to frameshifts versus the downstream gene coding sequence. [provided by RefSeq, Dec 2010] 1 1 p 95583479 95710511 + 95117923 95244955 + 6480464 12477932;20708005;20967262;23362303 100527978 S4R3V7;S4R434 ABBA01045499;ABBA01045500;ABBA01045501;AC092802;AC095033;AK309126;AMYH02001514;AMYH02001515;AMYH02001516;BC063464;NM_001199691 NP_001186620 Hs.483512 1692502 AL033903 protein-coding ENSG00000271092 HGNC:49388 VALIDATED 1605041 TMEM62 transmembrane protein 62 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; cytarabine 15 15 15 q15.2 20196546 20248167 + 43425722 43477342 + 43133524 43185147 + 6480464 12434312;12477932;14702039;15489334;16169070;8125298 80021 H3BN45;H3BPP8;H3BPV2;H3BQZ2;H3BRA3;H3BTT1;H3BU73;H3BVF7;Q0P6H9 ABBA01038351;ABBA01038352;ABBA01038353;AC068724;AK027028;AK225353;AK309679;AMYH02030298;BC009981;CH471125;CR457370;NM_024956;XM_005254682;XM_005254683;XM_005254684 AAH09981;BAB15630;CAG33651;EAW92586;EAW92587;NP_079232;Q0P6H9;XP_005254739;XP_005254740;XP_005254741 Hs.511175 1770291;2131040;2145136 A002Q01;RH71146;STS-R42458 FLJ23375 protein-coding ENSG00000137842 HGNC:26269 08669 PROVISIONAL 1314147 TMEM63B transmembrane protein 63B ENCODES a protein that exhibits nucleotide binding (inferred); INVOLVED IN ion transport (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH paracetamol; (S)-nicotine (ortholog); 17alpha-ethynylestradiol (ortholog) 6 6 6 p21.1 45648517 45676397 + 44094599 44123256 + 44126889 44155519 + 6480464 12477932;14574404;14702039;15489334;19322201;20360068;21890473;21988832;23000965 55362 E9PNG1;H0YCP6;H0YDJ6;H3BLW6;Q5T3F8 ABBA01050648;AK093629;AK309791;AL353957;AL365192;AL834238;AMYH02013657;BC022095;BC062989;BC093086;BC136769;BE463633;CH471081;CR627460;NM_018426;XM_005249211;XM_005249212;XM_005249213;XM_005249214;XM_005249215;XM_005249216;XM_005249217;XM_006715135 AAH62989;AAI36770;BAC04207;CAB89257;CAD38916;CAH10540;EAX04246;EAX04247;EAX04248;NP_060896;Q5T3F8;XP_005249268;XP_005249269;XP_005249270;XP_005249271;XP_005249272;XP_005249273;XP_005249274;XP_006715198 Hs.414473 1774247;2191325 MARC_17431-17432:1022875841:6;STS-W72853 C6orf110;DKFZp686N2275;RP3-421H19.2 CSC1-like protein 2;OTTHUMP00000016501;OTTHUMP00000016503;OTTHUMP00000016504;OTTHUMP00000236537;chromosome 6 open reading frame 110 protein-coding ENSG00000137216 HGNC:17735 16656 VALIDATED 1605419 TMEM63A transmembrane protein 63A ENCODES a protein that exhibits nucleotide binding (inferred); INVOLVED IN ion transport (inferred); FOUND IN extracellular vesicular exosome; lysosomal membrane; INTERACTS WITH elemental selenium; ethyl methanesulfonate; methyl methanesulfonate 1 1 1 q42.12 199224296 199261462 - 226033233 226070420 - 225845532 225882720 - 6480464 12477932;14702039;15489334;16344560;16710414;17897319;18854154;19056867;19913121;20628086;21963094;24250222;8125298;9455484;9872452 9725 O94886;Q2HIZ8;X6RI56 AB007958;AB018335;ABBA01009662;AK022502;AK222934;AK222944;AK309210;AL117348;AL591895;AMYH02002797;AMYH02002798;BC030245;BC113811;BF512395;CH471098;CQ834864;DA127076;KF510722;NM_014698;XM_006711841;XM_006711842 AAH30245;AAI13812;BAA34512;BAD96654;BAD96664;BAG51078;CAH05647;EAW69758;EAW69759;NP_055513;O94886;XP_006711904;XP_006711905 Hs.119387 1664936;1675989;1735956;2114463;2126291;2152756;2191325;5015881;5037552 D1S1937E;D1S3504;D8S2279;GDB:335751;MARC_17431-17432:1022875841:6;RH80101;SHGC-76439;STS-R42498;STS-X07936 KIAA0489;KIAA0792;RP4-559A3.1 CSC1-like protein 1;OTTHUMP00000035571 protein-coding ENSG00000196187 HGNC:29118 13817 VALIDATED 1320973 TMEM63C transmembrane protein 63C ENCODES a protein that exhibits calcium activated cation channel activity; INVOLVED IN cation transmembrane transport; cation transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q24.3 57686703 57764477 + 77648102 77725838 + 77181759 77259495 + 6480464;8554872 12477932;12508121;14702039;20379614;22925353;24503647 57156 G3V2V1;G3V3H0;G3V3S4;G3V3S9;G3V4J5;Q9P1W3 ABBA01030656;ABBA01030657;ABBA01030658;ABBA01030659;ABBA01030660;ABBA01030661;AC007375;AC007954;AK124749;AK125159;AL137278;AL157492;AL537279;AMYH02029567;BC136613;BC136614;BX248756;BX248759;CH471061;KF455952;NM_020431 AAF62556;AAF63182;AAI36614;AAI36615;BAG54088;BAG54157;CAB75676;CAD66563;CAD66566;EAW81272;EAW81273;NP_065164;Q9P1W3 Hs.22452 1732594;2122332 D10S1478;D14S1230 C14orf171;CSC1;hsCSC1 OTTHUMP00000246478;calcium permeable stress-gated cation channel 1;calcium permeable stress-gated cation channel 1 homolog protein-coding ENSG00000165548 HGNC:23787 16617 VALIDATED 1606436 TMEM64 transmembrane protein 64 INVOLVED IN cytosolic calcium ion homeostasis (inferred); positive regulation of bone resorption (inferred); positive regulation of osteoclast differentiation (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; coumestrol 8 8 8 q21.3 87828918 87852827 - 91634223 91658133 - 90621995 90645905 - 6480464 12477932;14702039;19167051;21906983;21963094 169200 E5RIS8;H0Y6S7;Q6YI46 AA044031;AB015752;ABBA01037409;ABBA01037410;AC106038;AK095472;AK123958;AK300583;AL834364;AMYH02018395;AY147881;BC017409;BC113828;CH471060;NM_001008495;NM_001146273 AAI13829;AAN05737;BAG53986;BAG62282;CAD39028;EAW91668;NP_001008495;NP_001139745;Q6YI46 Hs.567759;Hs.737401 2119106 WI-15041 DKFZp762C1112 OTTHUMP00000211659;OTTHUMP00000211660 protein-coding ENSG00000180694 HGNC:25441 16822 VALIDATED 1603356 TMEM65 transmembrane protein 65 FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; coumestrol 8 8 8 q24.13 121511293 121573166 - 125323159 125384940 - 124310918 124372699 - 6480464 12477932;15489334;19322201;20877624;22939629;24250222;8889548 157378 Q6PI78 ABBA01037891;AC090192;AMYH02018714;AMYH02018715;AW300050;BC017881;BC032396;BC041379;BM679703;BQ433192;CH471060;DB479586;NM_194291 AAH17881;AAH32396;AAH41379;EAW92061;NP_919267;Q6PI78 Hs.187646 1750631;1761093 SHGC-111940;SHGC-145074 OTTHUMP00000228203 protein-coding HGNC:25203 14102 VALIDATED 1313653 TMEM59L transmembrane protein 59-like This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq, Jul 2008] 19 19 19 p12 18625877 18634029 + 18723682 18731849 + 18607435 18621039 + 6480464;8554872 10527841;12477932;15489334;21139048;21890473 25789 M0R134;Q9UK28 ABBA01051275;AC003112;AC008998;AF186264;AK309384;AMYH02035737;BC010446;BI752768;CH471106;NM_012109;XM_006722719 AAF00529;AAH10446;ACE86634;ACE87316;EAW84726;EAW84727;NP_036241;Q9UK28;XP_006722782 Hs.329850 1665235;2121845;2140663 A002Y03;D19S650E;STS-R40163 BSMAP;C19orf4 brain-specific membrane-anchored protein;chromosome 19 open reading frame 4 APPROVED protein-coding ENSG00000105696 HGNC:13237 12709 REVIEWED 1318999 TMEM60 transmembrane protein 60 FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2-methylcholine 7 7 7 q11.23 72123641 72128342 - 77423045 77427747 - 77793728 77798430 - 6480464 12477932;12690205;12853948;15489334;20383146 85025 Q9H2L4 ABBA01058019;AC004955;AF260336;AMYH02016107;BC012192;BC065930;BX117806;CH236949;CH471091;NM_032936 AAG44667;AAH65930;AAP21882;AAP21883;ADR82699;EAL24196;EAW77032;NP_116325;Q9H2L4 Hs.19025 5111637 RH80336 C7orf35;DC32;MGC74482 OTTHUMP00000161277 protein-coding ENSG00000135211 HGNC:21754 12923 VALIDATED 1605680 TMEM69 transmembrane protein 69 FOUND IN integral component of membrane (inferred); INTERACTS WITH paracetamol; valproic acid; 2,4-dinitrotoluene (ortholog) 1 1 1 p34.1 44437828 44444089 + 46153847 46160110 + 45688175 45694436 + 6480464 11042152;12477932;15489334;16344560;16710414 51249 Q5SWH9 ABBA01050859;ABBA01050860;AF151063;AK024682;AL604028;AMYH02000937;BC013608;BC034147;BC039718;BC040289;BC046130;BC054041;BC064539;BC073836;BC104636;BC121117;BC133692;CH471059;CS300524;DA451438;NM_016486 AAF36149;AAH13608;AAH34147;AAH39718;AAH46130;AAH64539;AAH73836;AAI21118;AAI33693;CAK32188;EAX06953;EAX06954;NP_057570;Q5SWH9 Hs.699548 1686893;2149789;5493117 RH65107;SHGC-30539;UniSTS:484369 C1orf154;FLJ21029;MGC104183;RP11-767N6.4 OTTHUMP00000038561 protein-coding HGNC:28035 14234 VALIDATED 5509640 TMEM72-AS1 TMEM72 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 10 10 10 q11.21 41309646 41458313 - 45306451 45455137 - 44811024 44959689 - 8554872 14702039;16344560;20709820 220980 ABBA01050023;AK056518;AL139119;AL353801;AMYH02022726;AMYH02022727;AMYH02022728;DB298676;HG502853;NR_033842 Hs.568801 1730972;1744255;1755067;2134491 AFMb032yh1;D10S255;GDB:439096;SHGC-142004 RP11-18M11.2 APPROVED ncrna ENSG00000224812 HGNC:27349 PREDICTED 1603902 TMEM68 transmembrane protein 68 ENCODES a protein that exhibits transferase activity, transferring acyl groups (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; amiodarone 8 8 8 q12.1 52641534 52677152 - 56651317 56685955 - 55738744 55773407 - 6480464;8554872 12477932;14702039;15146197;15489334;16344560;19322201;20379614;21906983 137695 E5RGT2;E5RHI6;E5RHU1;E5RHZ2;E5RJ96;E5RJI9;E5RJN2;H0YAX4;H0YAY9;H0YC64;Q96MH6 ABBA01041748;AC100817;AF147306;AK056932;AK308247;AL832935;AMYH02018011;AX461617;BC020835;BC043417;BC071636;CH471068;CN272366;DB370750;NM_001286657;NM_001286660;NM_001286661;NM_152417;XM_005251150;XM_006716419 AAH20835;AAH43417;AAH71636;BAB71312;CAD38484;CAH56335;EAW86758;EAW86759;EAW86760;NP_001273586;NP_001273589;NP_001273590;NP_689630;Q96MH6;XP_005251207;XP_006716482 Hs.420076 1644477;1657520;1679365;2122158;2167782;5016596;5016851 D8S2041;GDB:631802;RH47106;RH48170;RH66108;RH80031;RH94018 FLJ32370;MGC87778 OTTHUMP00000226377;OTTHUMP00000226378;OTTHUMP00000226379;OTTHUMP00000226383 protein-coding ENSG00000167904 HGNC:26510 08128 VALIDATED 1606965 TMEM71 transmembrane protein 71 FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; cyclosporin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 8 8 8 q24.22 129896999 129948734 - 133722191 133772914 - 132709945 132760668 - 6480464 12477932;14702039;15489334 137835 E5RGD3;E5RH69;E5RHR5;E5RIQ3;E5RJJ0;H0YB65;Q6P5X7 ABBA01014205;AF228727;AK057631;AMYH02018808;AMYH02018809;BC022053;BC062592;BC105783;BG505962;CH471060;KC877343;KC877351;KC877355;KF454949;NM_001145153;NM_144649;XM_005250794;XM_005250795;XM_006716507;XM_006716508 AAH22053;AAH62592;AAI05784;BAB71537;EAW92145;EAW92146;EAW92147;NP_001138625;NP_653250;Q6P5X7;XP_005250851;XP_005250852;XP_006716570;XP_006716571 Hs.293842 1675939 RH76737 FLJ33069;MGC111188 OTTHUMP00000227148;OTTHUMP00000227149;OTTHUMP00000227150 protein-coding ENSG00000165071 HGNC:26572 08154 VALIDATED 1603032 TMEM70 transmembrane protein 70 This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] 8 8 8 q21.11 70886069 70892868 + 74888377 74895018 + 73976142 73982783 + 6480464;8699517;7240710;8554872 12477932;14702039;15489334;16169070;18953340;19103153;19913121;20200953;20237496;20335238;20628086;20877624;20920610;20937241;21139048;21147908;21815885;21890473;21906983;21945727;21963094;22433607;22986587;24250222;8125298;8889548 54968 D4PHA6;Q9BUB7 ABBA01041976;ABBA01041977;AC022868;AI800622;AK000540;AK225531;AK225536;AMYH02018231;BC002748;BF439499;BM984431;BU542365;CB961613;CH471068;DB483583;NG_016618;NM_001040613;NM_017866;NR_033334 AAH02748;BAA91240;EAW87022;EAW87023;NP_001035703;NP_060336;Q9BUB7 Hs.106650 2113890;2114334;2171472 AB070008;D8S2076;WI-15063 FLJ20533;MC5DN2 OTTHUMP00000226855;OTTHUMP00000226856;transmembrane protein 70, mitochondrial APPROVED protein-coding ENSG00000175606 HGNC:26050 07923 612418;614052 REVIEWED 1354072 TMEM72 transmembrane protein 72 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1 (ortholog) 10 10 10 q11.21 41409939 41433817 + 45406764 45430642 + 44911316 44935194 + 6480464;8554872 12477932 643236 A0PK05 AB235418;ABBA01050023;AL353801;AMYH02022727;BC029135;BC127789;BC127790;BX538120;NM_001123376 A0PK05;AAI27790;AAI27791;BAF97794;NP_001116848 Hs.292788 1730972;2134491 AFMb032yh1;D10S255 C10orf127;DKFZp686M0585;KSP37;MGC157906;bA285G1.3 OTTHUMP00000019500;kidney-specific secretory protein of 37 kDa protein-coding HGNC:31658 PROVISIONAL 1605858 TMEM74 transmembrane protein 74 INVOLVED IN autophagy (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasmic vesicle (inferred); integral component of membrane (inferred); lysosome (inferred); INTERACTS WITH 5-fluorouracil; aflatoxin B1; all-trans-retinoic acid 8 8 8 q23.1 105982575 105986999 - 109791165 109799770 - 108778936 108787541 - 6480464;8554872 12477932;14702039;15489334;17207965;18294959 157753 Q96NL1 ABBA01037707;AC104247;AK055230;AMYH02018590;BC030710;CH471060;NM_153015;XM_005250805 AAH30710;ADQ31879;BAB70881;EAW91921;EAW91922;NP_694560;Q96NL1;XP_005250862 Hs.99439 1691286;2182061 BCD2347;RH92459 FLJ30668;NET36 OTTHUMP00000227801 protein-coding HGNC:26409 08702 613935 PROVISIONAL 1606753 TMEM67 transmembrane protein 67 The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008] 8 8 8 q22.1 90953124 91017521 + 94767072 94831462 + 93754844 93819234 + 6480464;7240710;8554872;8699517 12384791;12477932;14702039;15489334;16344560;16415887;17160906;17185389;17377820;17397051;18327255;19058225;19508969;19515853;19574260;19815549;20232449;20301500;20301537;20301552;20301743;21068128;21906983;23393159 91147 C9JHI2;C9JRQ8;E5RG10;E5RH38;F8WCQ6;H0YAR5;H0YB69;H0YC18;Q5HYA8 ABBA01037438;ABBA01037439;AC010834;AK026742;AK092244;AK094935;AK297676;AK308071;AK308735;AMYH02018420;BC017974;BC031220;BC032835;BC054338;BM310097;BX648768;CH471060;DA928293;DC368894;NG_009190;NM_001142301;NM_153704;NR_024522;XM_006716685;XM_006716686;XM_006716687;XR_428387;XR_428388 AAH32835;ADZ16062;BAG52507;BAG52959;BAG60037;CAI45999;EAW91701;EAW91702;EAW91703;NP_001135773;NP_714915;Q5HYA8;XP_006716748;XP_006716749;XP_006716750 Hs.116240 1298230;1697170;1698068;5022651;5037552 D11S2921;D8S1128;D8S2279;RH102073;RH102566 JBTS6;MGC26979;MKS3;NPHP11;TNEM67 OTTHUMP00000203157;OTTHUMP00000203158;OTTHUMP00000203160;meckel syndrome type 3 protein;meckelin APPROVED protein-coding ENSG00000164953 HGNC:28396 11324 209900;216360;607361;609884;610688;613550 REVIEWED 1602783 TMEM75 transmembrane protein 75 FOUND IN integral component of membrane (inferred) 8 8 8 q24.21 125139597 125141761 - 128958805 128960969 - 127946559 127948723 - 12477932;14702039;23251661 641384 Q8N9X5 ABBA01037953;AC103705;AK093424;AMYH02018765;AX748117;BC137383;BC137385;NR_103558 AAI37384;AAI37386;Q8N9X5 Hs.629674 FLJ36105 2292709 PRSTS2_H ncrna ENSG00000280055 HGNC:32295 VALIDATED 1354046 TMEM74B transmembrane protein 74B ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; ketamine (ortholog) 20 20 20 p13 1257551 1261455 - 1161213 1166077 - 1180569 1185433 - 6480464;8554872 11780052;14702039;17474147;20944657 55321 Q5QPM3;Q9NUR3 ABBA01053766;AK002052;AL031665;AMYH02036564;AX405830;AX878080;CH471133;NM_018354;XM_005260747;XM_005260748;XM_006723586;XM_006723587 AAI56782;BAA92058;CAD34937;CAE90001;EAX10647;EAX10648;NP_060824;Q9NUR3;XP_005260804;XP_005260805;XP_006723649;XP_006723650 Hs.516834 1721381;1858550 G59692;WIAF-2129 C20orf46;FLJ11190 OTTHUMP00000029949;OTTHUMP00000029950;transmembrane protein C20orf46 APPROVED protein-coding ENSG00000125895 HGNC:15893 12772 PROVISIONAL 1606867 TMEM81 transmembrane protein 81 FOUND IN integral component of membrane (inferred); INTERACTS WITH valproic acid (ortholog) 1 1 1 q32.1 178187174 178188505 - 205052257 205053588 - 205083129 205084460 - 6480464 12477932;12975309 388730 Q6P7N7 ABBA01027432;AK303432;AL583832;AMYH02002543;AY359081;BC061592;CH471067;NM_203376 AAH61592;AAQ89440;BAG64482;EAW91535;NP_976310;Q6P7N7 Hs.146928 HC3107;KVLA2788;MGC75217;UNQ2788 OTTHUMP00000035176 protein-coding ENSG00000174529 HGNC:32349 14205 VALIDATED 1603825 TMEM82 transmembrane protein 82 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.21 14551934 14557494 + 16068987 16074292 + 15742492 15747797 + 6480464 12477932;23251661 388595 A0PJX8 ABBA01004700;AL450998;AMYH02000367;BC127706;BC127707;BC137239;BC137240;CH471167;NM_001013641 A0PJX8;AAI27707;AAI27708;AAI37240;AAI37241;EAW51749;NP_001013663 Hs.454828 2160272 RH48605 OTTHUMP00000003097 protein-coding ENSG00000162460 HGNC:32350 18383 VALIDATED 1603868 TMEM80 transmembrane protein 80 FOUND IN integral component of membrane (inferred); INTERACTS WITH bisphenol A; diazinon; hydralazine 11 11 11 p15.5 768788 772796 + 695591 705028 + 695155 705028 + 6480464 12477932;8889548 283232 B7Z7W9;E9PQJ9;Q96HE8;S4R441 ABBA01015201;AC131934;AI739035;AK124309;AK302585;AMYH02024149;BC008671;BC038383;BI916171;BM874316;CA443683;CB044312;CF134831;CH471158;CK819789;DR006597;HY080028;NM_001042463;NM_001276253;NM_001276274;NM_174940;XM_006718206 AAH08671;BAH13755;EAX02372;EAX02373;NP_001035928;NP_001263182;NP_001263203;NP_777600;Q96HE8;XP_006718269 Hs.448664 1856587 WI-17473 FLJ38216;FLJ55823 OTTHUMP00000164430;OTTHUMP00000211855;OTTHUMP00000229622 protein-coding ENSG00000177042 HGNC:27453 14143 VALIDATED 1603160 TMEM86B transmembrane protein 86B ENCODES a protein that exhibits alkenylglycerophosphocholine hydrolase activity; alkenylglycerophosphoethanolamine hydrolase activity; INVOLVED IN ether lipid metabolic process; FOUND IN cytoplasm; membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 19 19 19 q13.42 52779538 52782168 - 55738002 55740632 - 55226634 55229264 - 6480464 12477932;15489334;17207965;21515882 255043 Q8N661 AA953377;ABBA01068115;AC010327;AK126545;AMYH02036457;BC023000;BC033193;CH471135;NM_173804 AAH23000;ADQ31654;EAW72350;EAW72351;NP_776165;Q8N661 Hs.135215 2155364 RH48409 MGC30208 lysoplasmalogenase protein-coding ENSG00000180089 HGNC:28448 14540 VALIDATED 1601825 TMEM86A transmembrane protein 86A ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cefaloridine (ortholog) 11 11 11 p15.1 18856213 18862194 + 18720351 18726332 + 18698804 18704785 + 6480464;8554872 12477932;14702039;15489334;16303743;17207965;22116950;22797925 144110 Q8N2M4 ABBA01061048;AC103974;AK074600;AMYH02024402;BC017073;BC035692;CH471064;CQ782568;NM_153347 AAH17073;AAH35692;ADQ32657;BAC11084;CAF85844;EAW68373;NP_699178;Q8N2M4 Hs.502100 1665604;1737123;1738073 D11S2939;D11S3698;STS-R16823 FLJ90119 OTTHUMP00000231887;lysoplasmalogenase-like protein TMEM86A protein-coding ENSG00000151117 HGNC:26890 08292 PROVISIONAL 1601945 TMEM79 transmembrane protein 79 INVOLVED IN epithelial cell maturation (ortholog); establishment of skin barrier (ortholog); positive regulation of epidermis development (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN lysosomal membrane (ortholog); trans-Golgi network membrane (ortholog); INTERACTS WITH 2-methylcholine; cadmium atom; calcitriol 1 1 1 q22 129325685 129335202 + 156252704 156262234 + 156282913 156292443 + 6480464;8554872 12477932;14702039;15489334;16344560;16710414;17081983;17207965;20139978;24084074;24722188 84283 Q5SZW9;Q5SZX3;Q9BSE2 ABBA01016664;AK056816;AK122634;AK315767;AL589685;AMYH02001968;AMYH02001969;BC005094;BF448444;CH471121;DA678865;DA880152;NM_032323;NR_026678 AAH05094;ADQ31815;BAB71290;BAG38119;EAW52970;EAW52971;EAW52972;NP_115699;Q9BSE2 Hs.347408 1686360;2113474 D1Z10;RH92907 FLJ16057;FLJ32254;MATT;MGC13102 OTTHUMP00000021230;OTTHUMP00000021231;OTTHUMP00000021232;mattrin protein-coding ENSG00000163472 HGNC:28196 17481 615531 VALIDATED 2802463 TMEM88B transmembrane protein 88B FOUND IN integral component of membrane (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog) 1 1 1 p36.33 1209262 1238394 - 1361508 1363167 + 1426128 1427787 + 6480464 16710414 643965 A6NKF7 ABBA01016040;AL391244;AMYH02000097;AMYH02000098;NM_001146685 A6NKF7;NP_001140157 Hs.729765 1732852;1766309 D1S1287;SHGC-149656 protein-coding ENSG00000205116 HGNC:37099 VALIDATED 1603672 TMEM87A transmembrane protein 87A FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2-methylcholine 15 15 15 q15.1 19270425 19333454 - 42502726 42565797 - 42210452 42273584 - 6480464 10332034;12434312;12477932;14702039;15489334;16303743;17081983;20972266;21139048;21890473;21906983;21963094 25963 H3BM87;H3BMU0;H3BPJ4;H3BRG0;H3BSZ0;H3BTS6;H3BUZ1;Q8NBN3 ABBA01038379;AC022468;AC036103;AF129927;AF132733;AI023965;AI434902;AK023569;AK074870;AK075403;AK289591;AK290150;AK290484;AK297816;AK309915;AK309954;AL049944;AMYH02030282;BC005335;BC069240;BM989574;CH471125;CQ782835;CQ834520;DC341748;HY036655;N63753;NM_001110503;NM_001286487;NM_015497;XM_005254287;XM_006720468 AAF66444;AAH05335;AAH69240;BAC11256;BAC11598;BAF82280;BAF82839;BAF83173;BAG60154;CAB43218;CAF86061;CAH05475;EAW92540;EAW92541;EAW92542;NP_001103973;NP_001273416;NP_056312;Q8NBN3;XP_005254344;XP_006720531 Hs.511138;Hs.720520;Hs.744941 1651245;1659695;1686084;1689147;1725683;1736752;1736774;2128784;2155384;2170339 D15S762;D15S775;G31129;G62108;RH25565;RH41953;RH77803;RH80517;SHGC-17218;SHGC-57919 DKFZp564G2022 protein-coding ENSG00000103978 HGNC:24522 VALIDATED 1606359 TMEM89 transmembrane protein 89 FOUND IN nucleus; INTERACTS WITH paracetamol 3 3 3 p21.31 48614015 48614929 - 48658275 48659189 - 48620842 48621756 - 6480464 12477932 440955 A2RUT3 ABBA01024643;AC121252;AMYH02006723;AX657016;BC133034;BC133036;CH471055;NM_001008269 A2RUT3;AAI33035;AAI33037;CAD79709;EAW64899;NP_001008270 Hs.631922 5124362 RH92027 OTTHUMP00000210299 protein-coding HGNC:32372 17401 PROVISIONAL 1320668 TMEM8B transmembrane protein 8B INVOLVED IN cell-matrix adhesion; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell surface; plasma membrane; INTERACTS WITH atrazine; 3,4-methylenedioxymethamphetamine (ortholog); C60 fullerene (ortholog) 9 9 9 p13.3 35762754 35788379 + 35829222 35854844 + 35829225 35854847 + 6480464;8554872 11565907;12474055;12477932;12918109;15164053;15489334;15498789;15723283;16713569;17270023;17641538;19499154;19755717;20423473;20543461;20705583;20859756;21464545;22647848;23053953;23588848;24338274;8619474;9110174 51754 A6NDV4 ABBA01064982;ABBA01064983;AF070572;AF188239;AK074844;AL133410;AMYH02019466;BC041377;BC043384;BC064951;BC082765;BC098265;BC098296;BC099733;CH471071;CQ783981;NM_001042589;NM_001042590;NM_016446;XM_005251483;XM_005251484;XM_006716780;XM_006716781;XM_006716782;XM_006716783 A6NDV4;AAC28644;AAG29055;AAH98265;AAH98296;AAH99733;BAG52015;CAF86955;EAW58325;EAW58326;EAW58327;EAW58328;NP_001036054;NP_001036055;NP_057530;XP_005251540;XP_005251541;XP_006716843;XP_006716844;XP_006716845;XP_006716846 Hs.493808 1700652;1777850;2161260;2191005 D9S1165;MARC_12861-12862:1000493489:1;RH103949;RH11958 C9orf127;MGC120460;NAG-5;NGX6;RP11-112J3.10 OTTHUMP00000021354;OTTHUMP00000021355;OTTHUMP00000021362;nasopharyngeal carcinoma expressed 6;nasopharyngeal carcinoma related protein;nasopharyngeal carcinoma-associated gene 6 protein protein-coding ENSG00000137103 HGNC:21427 16674 VALIDATED 1322834 TMEM8A transmembrane protein 8A INVOLVED IN cell adhesion (inferred); FOUND IN extracellular vesicular exosome; lysosomal membrane; INTERACTS WITH cadmium atom; cobalt dichloride; menadione 16 16 16 p13.3 621328 632498 - 420776 431950 - 370776 381950 - 1580863;6480464 11006113;11157797;12477932;14702039;15489334;15616553;16344560;17897319;21752829 58986 C9J8D7;H0Y5B2;H7C1S0;K4DI83;Q9HCN3 AB045292;ABBA01030376;AE006463;AI678371;AK024725;AK091823;AL537021;AL546643;AMYH02031191;AMYH02031192;AMYH02031193;AMYH02031194;BC004276;BC021557;CH471112;DB224383;NM_021259;Z97634 AAH04276;AAH21557;AAK61227;ABM82961;ABM86152;BAB14975;BAB16376;EAW85823;EAW85824;EAW85825;NP_067082;Q9HCN3 Hs.288940 1805386;1805716;1806240;1807760;1808022;1808518;1809246;1810252;1811872;1811940;1814142;1816986;1818230;1819782;2049178;2049180;2049182;2049184;2049186;2049188;2049190;2049192;2049194;2049196;2049198;2049200;2049202;2049204;2049206;2049208;2049210;2049212;2049214;2049216;2049218;2049220;2049222;2049224;2049226;2049228;2049230;2049232;2049234;2049236;2049238;2049240;2049242;2049244;2049246;2049248;2049250;2049252;2049254;2049256;2049258;2049260;2049262;2049264;2049266;2049268;2049270;2049272;2049274;2049276;2049278;2049280;2049282;2104714;2104716;2104718;2104720;2104722;2104724;2104726;2104728;2104730;2104732;2115804;2137970;2161675;2165274 ECD03640;ECD03808;ECD04075;ECD04853;ECD04989;ECD05241;ECD05613;ECD06118;ECD06940;ECD06974;ECD08100;ECD09542;ECD10172;ECD10961;NIB1488;REN95732;REN95733;REN95734;REN95735;REN95736;REN95737;REN95738;REN95739;REN95740;REN95741;REN95742;REN95743;REN95744;REN95745;REN95746;REN95747;REN95748;REN95749;REN95750;REN95751;REN95752;REN95753;REN95754;REN95755;REN95756;REN95757;REN95758;REN95759;REN95760;REN95761;REN95762;REN95763;REN95764;REN95765;REN95766;REN95767;REN95768;REN95769;REN95770;REN95771;REN95772;REN95773;REN95774;REN95775;REN95776;REN95777;REN95778;REN95779;REN95780;REN95781;REN95782;REN95783;REN95784;RH15994;RH45380;STS-AA029713;stSG609077;stSG609078;stSG609079;stSG609080;stSG609081;stSG609082;stSG609083;stSG609084;stSG609085;stSG609087 M83;TMEM6;TMEM8 OTTHUMP00000045640;OTTHUMP00000199684;five-span transmembrane protein M83;transmembrane protein 6;transmembrane protein 8 (five membrane-spanning domains) protein-coding ENSG00000129925 HGNC:17205 11636 VALIDATED 1603555 TMEM92 transmembrane protein 92 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; copper(2+) sulfate 17 17 17 q21.33 44810072 44820146 + 48348767 48358846 + 50271406 50281485 + 6480464;8554872 12477932;12975309;14702039;15489334;16344560;19834535;23824909;24189493 162461 Q6UXU6 ABBA01041237;AC015909;AK090637;AMYH02033586;AW293202;AY358204;BC064507;CH471109;DB072318;NM_001168215;NM_153229;XM_006721730 AAH64507;AAQ88571;BAC03495;EAW94628;NP_001161687;NP_694961;Q6UXU6;XP_006721793 Hs.224630 FLJ33318 OTTHUMP00000221160;OTTHUMP00000221161 protein-coding ENSG00000167105 HGNC:26579 08743 VALIDATED 1602234 TMEM91 transmembrane protein 91 INVOLVED IN hematopoietic progenitor cell differentiation (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; bisphenol A; cisplatin 19 19 19 q13.2 38669744 38689857 + 41856873 41889988 + 41363966 41384083 + 6480464 12477932;14702039;16344560;19913121;20628086;22363774;24250222;8889548 641649 F5GWC9;F5H665;F8W6Q6;H0YFW9;H0YG43;H0YGI4;Q6ZNR0;S4R3Y8 ABBA01040805;ABBA01040806;AC011462;AI214374;AI277187;AK130820;AL833095;AMYH02036133;AMYH02036134;BC063705;BF684543;BG697182;BM675470;BM726200;BM931402;BX090160;CH471126;DA673235;NM_001042595;NM_001098821;NM_001098822;NM_001098823;NM_001098824;NM_001098825;R01772;R67551 AAH63705;BAC85439;EAW57036;EAW57037;NP_001036060;NP_001092291;NP_001092292;NP_001092293;NP_001092294;NP_001092295;Q6ZNR0 Hs.709417 1664125;2218162;5015861;5109281;7185938 (CT)_(CA)_R1;D10S16;D1S1425;STS-AA024836 DSPC3;FLJ27310;FLJ45695;IFITMD6 OTTHUMP00000238002;OTTHUMP00000238003;OTTHUMP00000238004;OTTHUMP00000238005;OTTHUMP00000238006;OTTHUMP00000238009;OTTHUMP00000238010;dispanin subfamily C member 3;interferon induced transmembrane protein domain containing 6 protein-coding ENSG00000142046 HGNC:32393 VALIDATED 1601835 TMEM88 transmembrane protein 88 INVOLVED IN multicellular organismal development (inferred); Wnt signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH cytarabine; melphalan; methylmercury chloride 17 17 17 p13.1 7786205 7787238 + 7758181 7759417 + 7854863 7856099 + 6480464;8554872 12477932;15489334;21044957;22573352;23924634 92162 I3L2J3;Q6PEY1 ABBA01054889;AC104581;AK000032;AMYH02032916;BC057812;CH471108;NM_203411;XM_005256856;XM_005256857 AAH57812;EAW90124;EAW90125;NP_981956;Q6PEY1;XP_005256913;XP_005256914 Hs.389669 2126984;2132294 RH36044;WI-11540 FLJ20025;MGC71744 protein-coding ENSG00000167874 HGNC:32371 17438 VALIDATED 1317397 TMEM9 transmembrane protein 9 INVOLVED IN transport (inferred); FOUND IN late endosome; lysosome; INTERACTS WITH atrazine; hydralazine; valproic acid 1 1 1 174227881 174247611 - 201103900 201140710 - 201134771 201171582 - 1580863;6480464 11042152;11076863;11230166;12359240;12477932;12975309;14702039;15489334;15489336;16169070;16303743;16344560;16381901;18541524;20379614;21139048;21906983;21963094;21988832;22053931;22939629;24250222;24816145 252839 B1ALM4;B1ALM5;B1ALM7;B1ALM8;B4E1H4;F2Z389;Q9P0T7 AB013909;ABBA01027535;AF151020;AI201238;AK054883;AK075335;AK091726;AK094588;AK296307;AK303843;AL136600;AL139159;AL516746;AMYH02002476;AMYH02002477;AX136089;AY138587;AY359012;BC001106;BE782946;BM928361;BX337142;CH471067;CR457162;CR533467;CS051125;CS072356;CX751563;DA141558;DA160051;DA364005;DA625212;DB031447;NM_001288564;NM_001288565;NM_001288566;NM_001288567;NM_001288568;NM_001288569;NM_001288570;NM_001288571;NM_016456;NR_109920;NR_109921 AAF36106;AAH01106;AAN15925;AAQ89371;BAB70820;BAB87799;BAC11554;BAG59006;BAG64786;CAB66535;CAC39687;CAG33443;CAG38498;CAI72058;CAI93494;CAL38191;CAL38483;EAW91337;EAW91338;EAW91339;EAW91340;EAW91341;EAW91342;EAW91343;EAW91344;NP_001275493;NP_001275494;NP_001275495;NP_001275496;NP_001275497;NP_001275498;NP_001275499;NP_001275500;NP_057540;Q9P0T7 Hs.181444 1342206;1655434;1683597;1715207;2134937 D1S2716;HSC2QF012;RH119854;RH76360;WI-11986 TMEM9A OTTHUMP00000033976;OTTHUMP00000033977;OTTHUMP00000033978;OTTHUMP00000033979;OTTHUMP00000038639;OTTHUMP00000038640;OTTHUMP00000038642;OTTHUMP00000038643;dermal papilla-derived protein 4 protein-coding ENSG00000116857 HGNC:18823 15542 VALIDATED 3302829 TMEM8C transmembrane protein 8C INVOLVED IN myoblast fusion (ortholog); plasma membrane fusion (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN plasma membrane (ortholog) 9 9 9 q34.2 2060 9496 - 136379708 136390068 - 133514586 133524946 - 8554872 389827 A6NI61 ABBA01032455;ABBA01032456;AMYH02021832;BX324209;NM_001080483 A6NI61;NP_001073952 Hs.512467 1738299;1738309 D9S1268;D9S1311 TMEM226 M83-like;OTTHUMP00000215815;myomaker;transmembrane protein 226;transmembrane protein 8-like protein-coding ENSG00000187616 HGNC:33778 615345 VALIDATED 9068627 TMEM92-AS1 TMEM92 antisense RNA 1 q21.33 24768205;8889548 103752589 AC015909;AK026439;BU687974;NR_125805 Hs.612913;Hs.622414 TCONS_00025237;lncRNA-508851 ncrna HGNC:50442 VALIDATED 1605922 TMEM87B transmembrane protein 87B ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 2 2 2 q13 106168949 106232478 - 112812800 112876895 + 112055223 112119318 + 6480464;8554872 12477932;14684825;14702039;16344560 84910 H7C0B3;H7C1G1;Q96K49 ABBA01005786;ABBA01005787;AC092645;AC093675;AI806006;AK027587;AK074243;AK290294;AMYH02004581;AMYH02004582;AY429534;AY429535;BC115373;CH471245;DA550235;DA806277;NM_032824;XM_005263827;XM_006712807 AAI15374;AAY14853;AAY24214;BAB55214;BAF82983;EAW52099;NP_116213;Q96K49;XP_005263884;XP_006712870 Hs.656298 1699308;1715525;1734238;1858395;2130893;2158089 D2S1495E;D2S2895;G16382;RH103240;RH120909;SHGC-64340 FLJ14681 OTTHUMP00000203576 protein-coding ENSG00000153214 HGNC:25913 07867 VALIDATED 6481442 TMEM97P1 transmembrane protein 97 pseudogene 1 21 21 45202960 45203442 + 43783079 43783561 + 100873880 ABBA01074137;AMYH02037899;AP001053;NG_032333 pseudo HGNC:39640 INFERRED 1607046 TMEM97 transmembrane protein 97 TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009] 17 17 17 q11.2 23507857 23517453 + 26646121 26655711 + 28319095 28328685 + 6480464 12477932;15375745;15489334;16344560;17143516;18029348;18070364;19322201;19583955;21079401;21139048;21832049;21890473;22024687;23229099;23254963;7694637 27346 J3KT68;J3KTD1;Q5BJF2;Q86XC5 ABBA01015060;AC002094;AK293331;AK299511;AK307678;AMYH02033221;BC017362;BC045655;BC091504;CA441136;CH471159;DA410183;L19183;NM_014573;XM_005257965 AAA16188;AAH45655;AAH91504;BAG56847;BAG61464;EAW51067;EAW51068;EAW51069;NP_055388;Q5BJF2;XP_005258022 Hs.199695 1670029;1677808;1682766;1754015;1855376;2126013 D20S1105;RH17628;RH24980;SHGC-11786;SHGC-132058;UniSTS:21338 MAC30 OTTHUMP00000163319 APPROVED protein-coding ENSG00000109084 HGNC:28106 14343 612912 VALIDATED 1603177 TMEM99 transmembrane protein 99 ASSOCIATED WITH ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR (inferred); Hyperkeratosis, Epidermolytic (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; cadmium atom; mitoxantrone 17 17 17 q21.2 35636925 35654074 + 38975344 38992526 + 40819092 40836274 + 6480464;8554872 11752456;12477932;14702039;15489334;16461635;16751776;8889548 147184 Q8N816 ABBA01031821;AC090283;AI301318;AK097454;AK298616;AMYH02033404;AV649893;AW151726;BC015365;BG530583;BM667164;CD689247;CH471152;DB459363;DN920898;DQ573945;DQ585710;NG_033147;NM_001195386;NM_001195387;NM_145274;XM_005257089 AAH15365;BAC05059;BAG60796;EAW60682;EAW60683;EAW60684;NP_001182315;NP_001182316;NP_660317;Q8N816;XP_005257146 Hs.353163;Hs.744059 1663795;1670031;1683397;1742063;1742315;1742411;1742441;1757271;1850425;1856183;2107255;2144235 DXS8276;GDB:190618;GDB:196333;GDB:196685;GDB:196997;KRT10_7811;RH47583;RH75831;SHGC-144686;SHGC-33438;STS-M77663;STS-X14487 MGC21518 OTTHUMP00000164945;OTTHUMP00000164946 protein-coding ENSG00000167920 HGNC:28305 14478 VALIDATED 1607062 TMEM98 transmembrane protein 98 This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2014] 17 17 17 q11.2 28165912 28179653 + 31254928 31268667 + 32927910 32941649 + 6480464;8554872;8699517 11076863;11230166;11256614;12477932;12975309;15489334;15489336;16381901;21900206;21906983;24852644 26022 C9J3Y0;C9J6Q8;J3QLG7;J3QS57;J9JIC8;Q9Y2Y6 ABBA01000734;AC084809;AF132000;AK313569;AL117619;AMYH02033328;AX061600;AX061642;AY358573;BC000526;BC106911;BQ228781;CH471147;CR457125;NG_034264;NM_001033504;NM_001301746;NM_015544 AAD22105;AAH00526;AAI06912;AAQ88936;BAG36342;CAB56018;CAC24975;CAC25003;CAG33406;CAL37523;EAW80219;EAW80220;NP_001028676;NP_001288675;NP_056359;Q9Y2Y6 Hs.3447 1681771;2166505 RH69576;RH93761 DKFZp564K1964;TADA1 OTTHUMP00000163788;OTTHUMP00000163789;OTTHUMP00000163790;OTTHUMP00000163791 protein-coding ENSG00000006042 HGNC:24529 13171 615949;615972 REVIEWED 1321873 TMEM9B TMEM9 domain family, member B ENCODES a protein that exhibits signal transducer activity; INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; signal transduction; FOUND IN integral component of membrane (inferred); INTERACTS WITH paracetamol; pirinixic acid; quercetin 11 11 11 p15.3 9088602 9105737 - 8968840 8986553 - 8947201 8965011 - 6480464 11528127;12477932;12761501;12975309;15340161;15342556;15489334;16169070;16303743;16344560;19322201;20951001;21890473;21906983;22505724;23000965 56674 B7Z6P5;E9PMI7;E9PR12;Q543A1;Q9NQ34 AA433929;AB097017;ABBA01061202;ABBA01061203;AC026894;AI346520;AJ400877;AK074677;AK300712;AK310723;AK313065;AK316216;AMYH02024299;AY359069;BC015884;BC040124;BP242422;CH471064;CQ783570;CQ834260;DA563443;DC314550;NM_001286094;NM_001286095;NM_020644 AAH15884;AAH40124;AAQ89428;BAC11131;BAC77370;BAG35894;BAH13331;BAH14587;CAB92287;CAF86738;CAH05345;EAW68607;EAW68608;EAW68609;NP_001273023;NP_001273024;NP_065695;Q9NQ34 Hs.501853 1658190;1671167;1679652;1754715;2123256 D11S1166;RH99267;SHGC-133076;SHGC-64039;WI-15442 C11orf15 OTTHUMP00000230696;transmembrane protein 9B protein-coding ENSG00000175348 HGNC:1168 12603 VALIDATED 1348306 TMEM9B-AS1 TMEM9B antisense RNA 1 11 11 p15.3 8986222 8997830 + 8964675 8976283 + 11528127;16344560;7566098;8889548 493900 AA339546;ABBA01061202;AC026894;AJ400877;AMYH02024299;AMYH02024300;BM724201;DA631400;HG503508;HG503509;NR_073431 Hs.591981 C11orf18 APPROVED ncrna ENSG00000254860 HGNC:19230 VALIDATED 1343102 TMIE transmembrane inner ear This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009] 3 3 3 p21 46680576 46691109 + 46742823 46752413 + 46693851 46710923 + 1599441;1599439;1580863;6480464;7240710;8554872;8699517 1683261 12140191;12145746;12477932;14727813;15489334;16389551;19438934;20206386;20301607;8593615;8681137;8889548;8944017 259236 Q8NEW7 ABBA01024712;AC134504;AMYH02006673;AY081842;BC126258;BC126260;BM696323;CH471055;F22661;NG_011628;NM_147196;XM_006713097;XM_006713098 AAI26259;AAI26261;AAL89820;EAW64781;NP_671729;Q8NEW7;XP_006713160;XP_006713161 Hs.185777 2107679 TMIE__5098 DFNB6 OTTHUMP00000195079;transmembrane inner ear expressed protein;transmembrane inner ear protein APPROVED protein-coding ENSG00000181585 HGNC:30800 06252 600971;607237 REVIEWED 732153 TMF1 TATA element modulatory factor 1 ENCODES a protein that exhibits DNA binding (inferred); transcription cofactor activity (inferred); INVOLVED IN regulation of proteasomal protein catabolic process (ortholog); FOUND IN Golgi apparatus; INTERACTS WITH (-)-demecolcine; atrazine; benzo[a]pyrene diol epoxide I 3 3 3 p14.1 68997084 69029590 - 69068978 69101484 - 69019827 69052333 - 1580863;6480464 10428808;12044884;12165860;12477932;1409643;14702039;15128430;15604093;16713569;16964243;17698061;18029348;18305892;19330832;19596235;20195357;20379614;21139048;22558309;23239882;24250222;24816145;25015289;8889548;9742951 7110 F8WF45;P82094;Q6PII6 AB209109;ABBA01030897;ABBA01030898;AC109587;AK021741;AK096365;AK299020;AK312697;AL040699;AMYH02007013;BC008454;BC033771;BC117418;BC126123;BC143840;BU689613;CH471055;L01042;NM_007114 AAD54608;AAH33771;AAI17419;AAI26124;AAI43841;BAD92346;BAG61099;EAW65468;EAW65469;NP_009045;P82094 Hs.267632 1774146;1775193;1850664;1851622;2116972;2125741;2179919;5015881;5037552;5092726 A005U17;A007F29;D3S4180;D8S2279;G32291;GDB:335751;RH48041;SGC44384;SHGC-44384;SHGC-77086 ARA160;TMF OTTHUMP00000213419;TATA element modulatory factor;androgen receptor coactivator 160 kDa protein;androgen receptor-associated protein of 160 kDa protein-coding ENSG00000144747 HGNC:11870 03081 601126 VALIDATED 1603857 TMEM95 transmembrane protein 95 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine 17 17 17 p13.1 7284442 7286483 + 7258497 7260538 + 7355142 7357219 + 6480464 12477932;12975309;24391514 339168 Q3KNT9 ABBA01054860;AC026954;AMYH02032898;AY358218;BC040900;BC107110;CH471108;NM_198154;XM_005256620;XM_006721513 AAH40900;AAI07111;AAQ88585;EAW90205;EAW90206;EAW90207;NP_937797;Q3KNT9;XP_005256677;XP_006721576 Hs.259432 1335571;5493585 D17S960;UniSTS:487308 MGC129793;UNQ9390 OTTHUMP00000163816;OTTHUMP00000163820 protein-coding ENSG00000182896 HGNC:27898 14165 PROVISIONAL 1604448 TMIGD1 transmembrane and immunoglobulin domain containing 1 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cadmium atom (ortholog); paracetamol (ortholog) 17 17 17 q11.2 25505000 25522699 - 28643351 28661065 - 30316333 30334053 - 6480464 12477932;12975309;14702039 388364 Q6UXZ0 ABBA01015001;AC087644;AK172838;AK290266;AMYH02033271;AY358153;BC137201;BC137202;CH471159;NM_206832;XM_005257969 AAI37202;AAI37203;AAQ88520;BAD18803;BAF82955;EAW51226;NP_996663;Q6UXZ0;XP_005258026 Hs.371005 1687033;1728683;2122391;2148655 AFMA184ZD9;G17979;G63633;RH92740 AWKS9372;TMIGD;UNQ9372 transmembrane and immunoglobulin domain-containing protein 1 protein-coding ENSG00000182271 HGNC:32431 18274 PROVISIONAL 1606734 TMIGD2 transmembrane and immunoglobulin domain containing 2 ENCODES a protein that exhibits coreceptor activity; INVOLVED IN positive regulation of activated T cell proliferation; positive regulation of cytokine production; signal transduction; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH dimethyl sulfoxide; disodium selenite; paracetamol 19 19 19 p13.3 4231605 4241808 - 4292224 4302428 - 4292227 4302431 - 6480464;8554872 12477932;12975309;15489334;22419821;23824909 126259 Q96BF3 ABBA01056081;AC008616;AMYH02035282;AY358964;BC015655;BU629751;CH471139;HQ452865;HQ452866;NM_001169126;NM_144615;XM_006722645 AAH15655;AAQ89323;AED88282;AED88283;EAW69239;EAW69240;NP_001162597;NP_653216;Q96BF3;XP_006722708 Hs.263928 IGPR-1;IGPR1;MGC23244 CD28 homolog;immunoglobulin and proline-rich receptor 1;immunoglobulin-containing and proline-rich receptor 1;transmembrane and immunoglobulin domain-containing protein 2;transmembrane and immunoglobulin domain-containing protein 2 variant 2;transmembrane and immunoglobulin domain-containing protein 2 variant 3 protein-coding ENSG00000167664 HGNC:28324 14487 614715 VALIDATED 6893191 TMLHE-AS1 TMLHE antisense RNA 1 X X X 154761529 154763221 - 154696201 154723771 + 155466540 155494110 + 100507404 AK098761;AMYH02040884;AMYH02040885;AMYH02040886;AMYH02040887;AMYH02040888;AMYH02040889;AMYH02040890;AMYH02040891;AMYH02040892;AMYH02040893;AMYH02040894;AMYH02040895;BC042086;BX276110;BX571846;HG512786;NR_039991 BAC05406 Hs.638368;Hs.659432 1694640;1703066;1729117 AU048852;G43495;sWXD2469 RP11-954J6.3 ncrna ENSG00000224533 HGNC:44261 VALIDATED 5129004 TMEM97P2 transmembrane protein 97 pseudogene 2 8 8 8 p21.3 19752784 19754982 - 20790128 20792327 - 20932617 20934816 - 724059 ABBA01021541;AC015468;AMYH02017579;NG_005603 1670029 SHGC-11786 pseudo HGNC:39641 INFERRED 736195 TMLHE trimethyllysine hydroxylase, epsilon This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] X X X q28 154736459 154739995 + 154718672 154842622 - 155489011 155612961 - 1580863;6480464;6907045;8699517;7240710;8554872 11076863;11256614;11431483;12477932;14702039;15489334;15489336;15754339;15772651;16344560;16381901;17408883;21865298;21890473;22566635;23092983;24654937;8908511 55217 Q9NVH6 ABBA01028611;ABBA01028612;ABBA01028613;ABBA01028614;ABBA01028615;ABBA01028616;ABBA01028617;ABBA01028618;ABBA01028619;AF373407;AK001589;AK291694;AK304830;AK310667;AMYH02040895;AMYH02040896;AMYH02040897;AMYH02040898;BC009673;BC025269;BX276110;BX323057;BX571846;CH471247;CR457265;DA323339;DB174485;NG_021318;NM_001184797;NM_018196;XR_247318 AAH25269;AAL01871;BAA91775;BAF84383;BAG65575;CAG33546;CAL38074;EAW55873;EAW55874;EAW55875;NP_001171726;NP_060666;Q9NVH6 Hs.133321 1681374;1708948;2107681;2180727;2184834;5122608 RH46875;RH65379;RH78991;RH92996;SHGC-79530;TMLHE__5099 AUTSX6;BBOX2;FLJ10727;TMLD;TMLH;TMLHED;XAP130 OTTHUMP00000024255;OTTHUMP00000031823;TML hydroxylase;TML-alpha-ketoglutarate dioxygenase;butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2;epsilon-trimethyllysine 2-oxoglutarate dioxygenase;epsilon-trimethyllysine hydroxylase;trimethyllysine dioxygenase, mitochondrial APPROVED protein-coding ENSG00000185973 HGNC:18308 06743 300777;300872 REVIEWED 1353581 TMPOP1 thymopoietin pseudogene 1 6 6 6 p21.33 32031427 32034010 + 30434002 30436646 + 30466225 30468869 + 100129772;387098 ABBA01038043;ABBA01038044;ABBA01038045;AL662822;AL662873;AL844213;AMYH02013431;BX927143;BX936375;CR762481;NG_027533 Em:AB014080.3;TMPOL1 pseudo HGNC:21364 INFERRED 1351754 TMOD2 tropomodulin 2 (neuronal) This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008] 15 15 15 q21.2 28937177 29001954 + 52043758 52108560 + 51751561 51816363 + 1580863;6480464 10662549;12477932;14702039;15095301;15489334;16344560;17207965;21832049;22939629;23398456;24816145;8886980 29767 G5EA42;H0YMA2;Q9NZR1 AB073658;ABBA01039080;AC026770;AC090971;AF177169;AK021496;AK025346;AK124907;AK292733;AK293823;AMYH02030437;AMYH02030438;AMYH02030439;BC036184;BC041940;BC064961;CH471082;DA808222;NM_001142885;NM_014548 AAF31668;AAH36184;AAH64961;ADQ32555;BAF85422;BAG57227;EAW77428;EAW77429;NP_001136357;NP_055363;Q9NZR1 Hs.513734 1337284;1678579;1713487;1752365;1794816;1794818;1794820;1794822;1794824;1794826;1794828;1794830;2130229;2138876;5015619;5037552 BCD1503;D11S3114;D15S220;D8S2279;PMC59888P1;PMC59888P2;PMC59888P3;PMC59888P4;PMC59888P5;PMC59888P6;PMC59888P7;PMC59888P8;RH120227;RH93728;SHGC-106273;SHGC-53022 MGC39481;N-TMOD;NTMOD OTTHUMP00000162617;neuronal tropomodulin;tropomodulin-2 APPROVED protein-coding ENSG00000128872 HGNC:11872 04237 602928 REVIEWED 6769096 TMPO-AS1 TMPO antisense RNA 1 12 12 12 q23.1 98570464 98573717 - 98906751 98910004 - 98512973 98516226 - 12477932;14702039 100128191 ABBA01053287;AC013418;AK054586;AMYH02027037;BC037346;BC067862;BI828425;NG_021393;NR_027157 Hs.594042 1674027;1794146 PMC310794P38;RH15720 APPROVED ncrna ENSG00000257167 HGNC:44158 VALIDATED 1605431 TMOD1 tropomodulin 1 This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009] 9 9 9 q22.3 70777697 70878281 + 100263462 100367177 + 97501180 97601743 + 6480464;8554872 10871039;11016930;11054557;11964245;12477932;1370827;14702039;14741341;15095301;15164053;15489334;16297372;16344560;16434395;18850735;19616115;20350937;23251661;23398456;25061212;7962203;8002995;8262158;8619474;8661028;8954802;9110174 7111 P28289;Q5T7W3 ABBA01042930;ABBA01042931;AF131836;AF288155;AK095748;AK314533;AL162385;AMYH02021308;AMYH02021309;AMYH02021310;BC002660;BU783086;CH471105;DA015088;M77016;NM_001166116;NM_003275 AAA61224;AAG30124;AAH02660;ABM83953;ABM87270;BAG37124;BAG53119;EAW58845;EAW58846;NP_001159588;NP_003266;P28289 Hs.404289;Hs.723236 1650866;1775883;1787192;1850950;2107683;2153885;5017847 D9S1702;RH78518;SHGC-85067;STS-M77016;TMOD1;TMOD1__5100;WI-11414 D9S57E;E-Tmod;TMOD ETMOD;OTTHUMP00000021743;OTTHUMP00000021744;e-tropomodulin;erythrocyte tropomodulin;tropomodulin-1 APPROVED protein-coding ENSG00000136842 HGNC:11871 01838 190930 REVIEWED 1319001 TMOD4 tropomodulin 4 (muscle) ENCODES a protein that exhibits actin binding (inferred); tropomyosin binding (inferred); INVOLVED IN muscle contraction (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoskeleton (inferred); striated muscle thin filament (inferred); INTERACTS WITH acetylsalicylic acid; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q12 124257754 124263838 - 151142463 151148547 - 151169986 151176071 - 1580863;6480464;8554872 10497209;10662549;11016930;11716785;12477932;14702039;15489334;17207965;21832049;25036637 29765 B7Z6N9;K7EQW4;K7ES04;Q5JR82;Q9NZQ9 ABBA01049380;ABBA01049381;AF165217;AF177173;AF321183;AF393375;AK092700;AK300675;AK313280;AL592424;AMYH02001873;BC017810;BX647346;CH471121;DC385872;NM_013353;XM_005245104 AAF01277;AAF31672;AAH17810;AAK06765;AAM73676;ADQ32088;BAC03951;BAG36088;BAH13325;EAW53463;EAW53464;EAW53465;NP_037485;Q9NZQ9;XP_005245161 Hs.709681 1746729;1773631;2106705;2130889;5124645 Cda0ge12;RH12845;RH135488;RH91093;TCFL1__5229 DKFZp779I0852;SK-TMOD OTTHUMP00000014288;actin-capping protein;skeletal muscle tropomodulin;tropomodulin-4 protein-coding ENSG00000163157 HGNC:11874 16164 605834 VALIDATED 1322266 TMOD3 tropomodulin 3 (ubiquitous) ENCODES a protein that exhibits actin binding (inferred); tropomyosin binding (inferred); FOUND IN cytoskeleton (inferred); striated muscle thin filament (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; paracetamol 15 15 15 q21.1-q21.2 29015228 29097738 + 52121825 52204335 + 51829628 51912138 + 1580863;6480464 10662549;12477932;12707310;15095301;15489334;16009940;17012745;17081983;17620599;17928307;18029348;19321449;19322201;19471022;19615732;20360068;20473970;20876399;21139048;21674799;21890473;21900206;21906983;22113938;22158085;22863883;22939629;23398456;24816145;25015289;8889548 29766 H0YKU1;H0YNJ8;H0YNU8;Q9NYL9 ABBA01039077;ABBA01039078;ABBA01039079;ABBA01039080;AC090971;AF177171;AF237631;AK025704;AK310344;AK312569;AL137543;AMYH02030439;AMYH02030440;BC020542;BM975185;BX647277;NM_014547;XM_006720479 AAF31670;AAF45299;AAH20542;BAG35464;CAB70801;CAI46036;NP_055362;Q9NYL9;XP_006720542 Hs.4998 1644581;1647025;1699644;1706776;1751295;1774918;1855458;2109983;2120374;2130946;2171339;5015861;5109281;7185938 D10S16;D15S1203;D1S1425;RH103426;RH45657;RH71182;SGC44370;SHGC-105181;SHGC-36394;SHGC-80857;STS-N36078;TMOD3_9585;WI-13716 OTTHUMP00000162615;UTMOD;tropomodulin-3;ubiquitous tropomodulin protein-coding HGNC:11873 10389 605112 VALIDATED 2304158 TMPPE transmembrane protein with metallophosphoesterase domain ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); INVOLVED IN metabolic process (inferred); FOUND IN integral component of membrane (inferred) 3 3 3 p22.3 33074968 33081352 - 33038219 33138689 - 33090416 33096801 - 12477932 643853 Q6ZT21 ABBA01024911;AC112211;AK126979;AK128242;AMYH02006515;AW103036;BC136872;BC136873;NG_009005;NM_001039770;NM_001136238 AAI36873;AAI36874;BAC86774;BAC87349;NP_001034859;NP_001129710;Q6ZT21 Hs.443031 2154233 RH69516 FLJ45032;FLJ46376 OTTHUMP00000208608;OTTHUMP00000208609 protein-coding ENSG00000188167 HGNC:33865 VALIDATED 1606722 TMPRSS11B transmembrane protease, serine 11B ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH silicon dioxide; cadmium dichloride (ortholog) 4 4 4 q13.2 66551717 66570749 - 69092371 69111412 - 68226653 68245694 - 6480464 11076863;11230166;12477932;15489336;16381901;17975119;19023099;19199708 132724 Q86T26 ABBA01022908;AC098799;AK290904;AK310210;AL833167;AMYH02009385;BC126195;BX537945;CH471057;NM_182502 AAI26196;ADR83164;BAF83593;CAD91168;CAD97913;CAL38608;EAX05569;NP_872308;Q86T26 Hs.407122 1340009;2124363;2134413 D4S2387;D4S2391;D4S2616 DKFZp686L1818 OTTHUMP00000159636;airway trypsin-like protease 5;transmembrane protease serine 11B protein-coding ENSG00000185873 HGNC:25398 13219 VALIDATED 3340240 TMPRSS11CP transmembrane protease, serine 11C, pseudogene 4 4 4 66094006 66102544 - 68631632 68640172 - 67765914 67774454 - 6480464 15328353;18215125;19487698;20210993;9847074 100381178 ABBA01022901;AC079880;AMYH02009379;NG_016735 1338279 D4S3018 pseudo HGNC:31934 INFERRED 3103405 TMPRSS11BNL TMPRSS11B N-terminal like, pseudogene 4 4 4 q13.2 66516481 66543144 - 69054242 69083798 - 68184129 68218080 - 6480464 401136 ABBA01022908;AC098799;AK123556;AMYH02009384;AMYH02009385;CH471057;KF459868;KF459870;KF459876;NR_104048 BAG53912;EAX05568 Hs.652046 1719893 RH123639 FLJ41562 TMPRSS11B N-terminus-like protein;transmembrane protease serine 11B-like protein APPROVED pseudo ENSG00000250026 HGNC:37262 VALIDATED 1605232 TMPRSS11A transmembrane protease, serine 11A ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); integral component of plasma membrane (inferred); INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 4 4 4 q13.2 66238428 66291616 - 68776019 68829232 - 67910301 67963514 - 6480464;8554872 12477932;12838346;15095404;15328353;17971341;19052822;19394797;19826048;21288367;21517269;23481570;23548972;23869757 339967 A8KA85;B5MDI9;H0YAL9;Q6ZMR5 ABBA01022903;AC096653;AC096727;AF071882;AK131518;AK292950;AMYH02009380;AY498712;BC111796;BN000133;CH471057;NM_001114387;NM_182606;XM_006714206 AAD41463;AAI11797;AAS78642;BAD18660;BAF85639;CAD67985;EAX05560;NP_001107859;NP_872412;Q6ZMR5;XP_006714269 Hs.450110 1696332;1756817;2133368;2182693;2186880 SHGC-143962;SHGC-16352;SHGC-50193;SHGC-67273;SHGC-77762 ECRG1;MGC133183 OTTHUMP00000159638;OTTHUMP00000219019;OTTHUMP00000219020;airway trypsin-like protease 1;epidermal type II transmembrane serine protease;epidermal type-II transmembrane serine protease;esophageal cancer-susceptibility gene 1 protein;transmembrane protease serine 11A protein-coding ENSG00000187054 HGNC:27954 07123 611704 VALIDATED 1606328 TMPRSS11D transmembrane protease, serine 11D This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. [provided by RefSeq, Jul 2008] 4 4 4 q13.2 66148993 66212123 - 68686594 68749716 - 67820876 67883998 - 6480464 11326745;12477932;12630574;14702039;15102084;15489334;16199437;16336275;16973594;19056867;21994442;22023801;22245154;22558251;23192872;9070615;9565616 9407 B4DL57;H0Y8K7;O60235 AB002134;ABBA01022903;AC079880;AC096653;AK094054;AK290289;AK296853;AL603214;AMYH02009380;BC033295;BC125195;BC125196;BX649007;CH471057;NM_004262;XM_005265710 AAI25196;AAI25197;AAY40996;BAA28691;BAF82978;BAG59419;EAX05559;NP_004253;O60235;XP_005265767 Hs.132195 2108133 HAT_8933 HAT;MGC150587;MGC150588 OTTHUMP00000159635;airway trypsin like protease;airway trypsin-like protease;transmembrane protease serine 11D APPROVED protein-coding ENSG00000153802 HGNC:24059 05642 605369 REVIEWED 1641973 TMPRSS11E2 transmembrane protease, serine 11E2 q13.2 9847074 729884 AC019173;AC074378;AC140484;AK292787;NM_001099662 A6NL71;BAF85476;NP_001093132 Hs.645299 protein-coding HGNC:33592 8693569 TMPOP2 thymopoietin pseudogene 2 (functional) 16 16 74701404 74702601 + 74667506 74668703 + 25007342 100533619 ABBA01058107;AC109599;AMYH02032384;NG_028880 lncRNA-EBIC APPROVED pseudo HGNC:50860 INFERRED 1602625 TMPRSS11F transmembrane protease, serine 11F ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); integral component of plasma membrane (inferred); INTERACTS WITH copper(2+) sulfate; andrographolide (ortholog); beta-naphthoflavone (ortholog) 4 4 4 q13.2 66381225 66457903 - 68918916 68995587 - 68053198 68129869 - 6480464;8554872 16344560 389208 Q6ZWK6 ABBA01022908;AC096727;AC107054;AK122625;AMYH02009381;AMYH02009382;AMYH02009383;AMYH02009384;CH471057;DA441628;KF457767;NM_207407 BAC85495;EAX05563;NP_997290;Q6ZWK6 Hs.677557 2121096 SHGC-31163 FLJ16046 OTTHUMP00000159644;airway trypsin-like protease 4;transmembrane protease serine 11F protein-coding ENSG00000198092 HGNC:29994 16908 VALIDATED 1606302 TMPRSS11E transmembrane protease, serine 11E ENCODES a protein that exhibits serine-type peptidase activity (ortholog); INVOLVED IN cognition; proteolysis (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of plasma membrane (ortholog); INTERACTS WITH calcitriol; isotretinoin; testosterone 4 4 4 q13.2 66773145 66823292 + 69313167 69363322 + 68447449 68497604 + 6480464;8554872 11161383;12477932;12975309;15328353;15489334;15815621;16344560;17388811;9847074 28983 H0Y9G7;Q9UL52 ABBA01022911;AC019173;AC074378;AC079749;AC140484;AC247056;AF064819;AK292787;AK313859;AY359017;BC113412;BC113414;CH471057;DB013544;NM_014058 AAF04328;AAI13413;AAI13415;AAQ89376;AAY40995;AAY41025;ADR82988;BAF85476;BAG36587;EAX05573;NP_054777;Q9UL52 Hs.201877 1706528;2218478 DESC1_4696;SHGC-81237 DESC1;FLJ75331;FLJ94490;MGC141972;MGC141974;TMPRSS11E2 OTTHUMP00000218195;serine protease DESC1;transmembrane protease serine 11E;transmembrane protease serine 11E2;transmembrane protease, serine 11E-like;transmembrane protease, serine 11E2 protein-coding ENSG00000087128 HGNC:24465 09912 610399 VALIDATED 1606922 TMPRSS12 transmembrane (C-terminal) protease, serine 12 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH pirinixic acid (ortholog); valproic acid (ortholog) 12 12 12 q13.12 50038174 50083137 + 51236701 51281667 + 50842918 50887884 + 6480464 12477932;17207965;20379614 283471 F8WBX2;Q86WS5 AA884376;ABBA01031588;ABBA01031589;AC008121;AC013244;AMYH02026471;AMYH02026472;AMYH02026473;AMYH02026474;BC035123;BC048112;CH471111;DB458497;NM_182559 AAH48112;ADQ32512;EAW58152;EAW58153;NP_872365;Q86WS5 Hs.125571 CT151;MGC57341 OTTHUMP00000241245;OTTHUMP00000241246;transmembrane protease serine 12;transmembrane protease, serine 12 APPROVED protein-coding ENSG00000186452 HGNC:28779 07133 VALIDATED 735785 TMPO thymopoietin The protein encoded by this gene resides in the nucleus and may play a role in the assembly of the nuclear lamina, and thus help maintain the structural organization of the nuclear envelope. It may function as a receptor for the attachment of lamin filaments to the inner nuclear membrane. Mutations in this gene are associated with dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, May 2010] 12 12 12 q22 98573064 98608807 + 98909351 98944157 + 98515573 98550379 + 1580863;6480464;7240710;8554872;8699517 10393804;10430029;10806084;10984438;11034899;11435115;11500367;11591818;12475961;12477932;12538639;12950172;15302935;15489334;15546916;16083285;16129885;16196087;16247757;16344560;16606692;16713569;16760672;17081983;17207965;17213199;17227891;17284516;17314511;17364180;17474147;17558393;17620599;18029348;18403046;19135240;19394292;19454010;19471022;19727227;19913121;19928837;19929986;19946888;20237496;20301486;20360068;20462248;20562859;20628086;21139048;21252943;21549307;2158125;21679440;21693764;21890473;21906983;21907836;21963094;21987572;21990273;22113938;22145905;22268729;22412018;22505724;22751105;22939629;22990118;23000965;23182705;23184937;23254330;23463506;23673662;23752268;24332808;24457600;24583282;24654937;24816145;25015289;25027693;302007;6364989;7517549;7703909;8324822;8530026;8619474;8743987;9110174;9461618;9490046;9707448 7112 G5E972;H0YJH7;P42166;P42167;Q59G12 AA992204;AB209297;ABBA01053286;ABBA01053287;AC013418;AF070631;AF113682;AI055921;AK299708;AK315221;AMYH02027037;BC050383;BC053675;BG676381;BM802949;BM991833;BP423544;BQ232508;BU932961;CH471054;DB239672;EF028063;NG_021393;NM_001032283;NM_001032284;NM_003276;S76736;U09086;U09087;U09088;U18269;U18270;U18271;XM_005269130;XM_005269132 AAB33958;AAB60329;AAB60330;AAB60331;AAB60433;AAB60434;AAB60435;AAC25390;AAF29583;AAH53675;ABL61272;ADQ32571;BAD92534;BAG61609;EAW97589;EAW97590;EAW97591;EAW97592;EAW97593;EAW97594;NP_001027454;NP_001027455;NP_003267;P42166;P42167;XP_005269187;XP_005269189 Hs.11355 1643927;1674027;1686824;1714799;1794146;1794148;1854906;2119844;2132858;2176288;2181958;2218098;5015619;5015959;5016596;5024039;5037552;5111885;5127017;5491914;7185326 D10S2448;D11S3114;D12S1849;D16S325;D8S2279;GDB:631802;PMC310794P38;PMC310794P39;RH11218;RH120066;RH15720;RH44347;RH47529;RH48814;SHGC-58801;STS-T25858;TMPO_3873;Tmpo;WI-11271;WI-18798 CMD1T;LAP2;LEMD4;MGC61508;PRO0868;TP LEM domain containing 4;OTTHUMP00000243237;OTTHUMP00000243238;OTTHUMP00000243239;OTTHUMP00000243240;OTTHUMP00000244152;OTTHUMP00000244153;TP alpha;TP beta/gamma;lamina-associated polypeptide 2;thymopoietin-related peptide isoform alpha;thymopoietin-related peptide isoforms beta/gamma APPROVED protein-coding ENSG00000120802 HGNC:11875 01777 188380;613740 REVIEWED 1604778 TMPRSS13 transmembrane protease, serine 13 This gene encodes a member of the type II transmembrane serine protease family. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 11 11 11 q23 114929190 114957960 - 117771356 117800168 - 117900641 117929453 - 6480464 11267681;12477932;14702039;16554811;17981585;20219906;20811636;20977675;23443559 84000 E9PR79;E9PRA0;J3KQC6;Q1RMF8;Q9BYE2 AB048796;AB048797;ABBA01039718;AK027798;AK300283;AMYH02025635;AP002962;AW014913;AY190317;BC018715;BC114928;CH471065;DC381405;NG_030336;NM_001077263;NM_001206789;NM_001206790;NM_001244995 AAI14929;AAO38062;BAB39741;BAB39742;BAB55376;BAG62041;EAW67338;EAW67339;EAW67340;EAW67341;EAW67342;NP_001070731;NP_001193718;NP_001193719;NP_001231924;Q9BYE2 Hs.266308 1657848;1681538 RH68429;RH98699 MSP;MSPL;MSPS;TMPRSS11 OTTHUMP00000234699;OTTHUMP00000234700;OTTHUMP00000234701;OTTHUMP00000234702;OTTHUMP00000234703;membrane-type mosaic serine protease;mosaic serine protease;transmembrane protease serine 13;transmembrane protease, serine 11 APPROVED protein-coding ENSG00000137747 HGNC:29808 07493 610050 REVIEWED 5490840 TMPRSS11GP transmembrane protease, serine 11G, pseudogene 4 4 4 q13.2 66319786 66325682 - 68857530 68863157 - 67991812 67997439 - 19487698;20210993 644759 ABBA01022906;AC096727;AMYH02009380;EG328686;NR_033737 Hs.646883 2131171 SHGC-52443 pseudo ENSG00000229009 HGNC:42983 PROVISIONAL 6770075 TMPRSS4-AS1 TMPRSS4 antisense RNA 1 11 11 117886417 117957592 - 118015772 118086793 - 100526771 AB231754;AB231755;AB231756;AB231757;AB231758;ABBA01039715;ABBA01039716;AMYH02025635;AMYH02025636;AMYH02025637;AP000665;AP002962;HG504211;HG504212;HG504213;KF455533;KF459765;KF459767;KF459768;KF459769;KF459771;NR_038318 BAE46894 Hs.627426 RP11-652L8.2 APPROVED ncrna ENSG00000255274 HGNC:44179 VALIDATED 1354092 TMPRSS2 transmembrane protease, serine 2 This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 21 21 21 q22.3 28034659 28078450 - 42836236 42880085 - 41464309 41508158 - 1580863;2324904;6480464 18338334 10485450;10830953;11169526;11245484;11322890;11414763;12477932;15065083;15342556;15489334;15537383;16575875;16585160;16820092;16973594;17032499;17207965;17367471;17390040;17584912;17632455;17654723;17804708;18029348;18065961;18172298;18385909;18474293;18483239;18519767;18519769;18562527;18583469;18676740;18694509;18922926;19029822;19056867;19147579;19158246;19190343;19242826;19396154;19465903;19494719;19584163;19597533;19649210;19664128;19762545;19933109;20068566;20118910;20382709;20442300;20631123;20798944;20800881;20878952;21036922;21040948;21068237;21123387;21169414;21325420;21377967;21499238;21584900;21600800;21676887;21677539;21680704;21731703;21743434;21743959;21802835;21937078;22076164;22222211;22313860;22558251;22674214;22736790;22860005;22930729;22993300;23192872;23352841;23447416;23472063;23535644;23536651;23701505;23850495;24027332;24109594;24195515;24227843;24292212;24297949;24418414;24529757;24789172;24824408;25043536;8125298;9325052 7113 C9J5Y1;C9JB05;C9JKZ3;O15393 AA904080;ABBA01044661;ABBA01044662;ABBA01044663;AF123453;AF270487;AF318374;AF329454;AK123948;AK222784;AK291813;AK296860;AK313338;AMYH02037857;AMYH02037858;AMYH02037859;AMYH02037860;AP001610;BC015819;BC035623;BC051839;BP276431;CH471079;DC382934;EU090249;HM245389;HM245390;KC877889;NM_001135099;NM_005656;U75329;XM_005261042;XM_005261043;XM_005261044;XM_006724048 AAC51784;AAD37117;AAH51839;AAK29280;AAK53559;AAL55881;ADQ33108;BAD96504;BAF84502;BAG36142;BAH12445;EAX09596;EAX09597;EAX09598;EAX09599;NP_001128571;NP_005647;O15393;XP_005261099;XP_005261100;XP_005261101;XP_006724111 Hs.439309 1793992;1851727;2107685;2116154;2173414;5016478 D21S1876;G29032;GDB:434012;PMC310729P10;SHGC-87658;TMPRSS2_7892 FLJ41954;PP9284;PRSS10 OTTHUMP00000109259;OTTHUMP00000207916;OTTHUMP00000207917;epitheliasin;serine protease 10;transmembrane protease serine 2 APPROVED protein-coding ENSG00000184012 HGNC:11876 03637 602060 REVIEWED 1312821 TMPRSS4 transmembrane protease, serine 4 This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 115105578 115148408 + 117947727 117996323 + 118077012 118125608 + 1580863;6480464 10825129;12477932;12975309;14702039;15342556;15489334;17207965;17968309;18029348;19158246;20118200;20631123;21637307;22067904;22692880;22944691;23420063;23922976;23957953;23978400;24012692;24072509;24132607;24299317;24434139;24434435;24532432;8889548 56649 B7Z458;B7Z8X1;B7Z900;E5RIH1;E5RJR8;E7ESG9;G3V124;H0YAX8;H0YBM5;Q9NRS4 ABBA01039715;AF179224;AF216312;AK172766;AK290361;AK296855;AK303173;AK304113;AK304215;AK308434;AMYH02025637;AP000665;AP002800;AY358530;BC004855;BC011703;BC012752;BE736425;BP220493;BU685753;CH471065;EF445038;KF459769;NG_011858;NM_001083947;NM_001173551;NM_001173552;NM_001290094;NM_001290096;NM_019894;NR_110734;XM_005271613;XM_005271614;XM_005271615;XM_006718883;XM_006718884;XM_006718885 AAF31436;AAF74526;AAH04855;AAH11703;AAQ88894;ACA06088;ADQ32399;BAD18749;BAF83050;BAH12444;BAH13911;BAH14107;BAH14136;EAW67345;EAW67346;EAW67347;EAW67348;EAW67349;EAW67350;NP_001077416;NP_001167022;NP_001167023;NP_001277023;NP_001277025;NP_063947;Q9NRS4;XP_005271670;XP_005271671;XP_005271672;XP_006718946;XP_006718947;XP_006718948 Hs.161985 1709576;1755189;2110781 SHGC-142104;SHGC-85140;TMPRSS4_8068 CAPH2;MT-SP2;TMPRSS3 OTTHUMP00000225915;OTTHUMP00000225916;OTTHUMP00000225917;OTTHUMP00000225918;OTTHUMP00000225921;OTTHUMP00000233153;channel-activating protease 2;membrane-type serine protease 2;transmembrane protease serine 4;transmembrane serine protease 3;type II membrane serine protease APPROVED protein-coding ENSG00000137648 HGNC:11878 05952 606565 REVIEWED 732836 TMPRSS5 transmembrane protease, serine 5 This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 11 11 11 q 110711188 110729987 - 113558268 113577151 - 113687546 113706429 - 1580863;6480464;8554872 11741986;12477932;12484779;17918732 80975 B7Z247;F5GX83;F5GXT6;F5GYA3;F5H0U3;F5H2M3;F5H8D2;G5EA43;G5EA47;Q0P513;Q0P514;Q9H3S3 AB028140;ABBA01039782;ABBA01039783;ABBA01039784;AI056603;AK294313;AK295366;AL538140;AMYH02025595;AP002436;AP003402;BC028065;BC047222;BC121802;BC121803;CH471065;NM_001288749;NM_001288750;NM_001288751;NM_001288752;NM_030770;NR_110046;NR_110047;XM_006718921;XM_006718922;XM_006718923 AAI21803;AAI21804;BAB20375;BAH11733;BAH12047;EAW67226;EAW67227;EAW67228;NP_001275678;NP_001275679;NP_001275680;NP_001275681;NP_110397;Q9H3S3;XP_006718984;XP_006718985;XP_006718986 Hs.46720 1782438;2108965;2180981;2182290 RH78980;SHGC-155029;SHGC-37362;TMPRSS5_8101 MGC141886;MGC148044 OTTHUMP00000238209;OTTHUMP00000238210;OTTHUMP00000238211;OTTHUMP00000238212;OTTHUMP00000238213;SPINESIN;adrenal mitochondrial protease;transmembrane protease serine 5 APPROVED protein-coding ENSG00000166682 HGNC:14908 05995 606751 REVIEWED 1312220 TMPRSS7 transmembrane protease, serine 7 ENCODES a protein that exhibits serine-type peptidase activity (ortholog); INVOLVED IN proteolysis (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); indole-3-methanol (ortholog) 3 3 3 q13.2 110157540 110199202 + 111758465 111800116 + 112039586 112081269 + 1580863;6480464;8554872 12477932;12838346;14702039;15489334;16641997;24478790 344805 F8WCZ2;G3V1W5;Q7RTY8 ABBA01061668;ABBA01061669;AC024887;AK131211;AMYH02007437;BC117322;BN000125;NM_001042575;NR_026734;XM_006713614 AAI17323;BAD18401;CAD67577;NP_001036040;Q7RTY8;XP_006713677 Hs.435490 2108581 TMPRSS7_8180 OTTHUMP00000211537;OTTHUMP00000211539;matriptase-3;transmembrane protease serine 7;transmembrane serine protease 7;type II transmembrane serine protease 7 protein-coding ENSG00000176040 HGNC:30846 VALIDATED 1322295 TMPRSS15 transmembrane protease, serine 15 This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008] 21 21 21 q21.1 4817153 4951365 - 19641433 19775970 - 18269116 18403653 - 1599212;1580863;6480464;8554872;8699517 11719902 10830953;1147667;11913964;12477932;12907431;15489334;16344560;18062964;19924134;20379614;2093478;22488687;22571433;23185382;23436726;23568457;4322674;7718557;8052624 5651 E9PG70;P98073 ABBA01057134;ABBA01057135;AF246125;AI279666;AL078474;AL163218;AMYH02037567;AMYH02037568;AMYH02037569;AP000455;AP000456;BC111749;BM015908;CH471079;CS223379;DB242953;KF457043;KF688184;NG_012207;NM_002772;U09860;Y19124 AAC50138;AAF97778;AAI11750;AHC28777;CAB65555;CAB90392;CAJ46929;EAX10016;EAX10017;NP_002763;P98073 Hs.149473 1340663;1681404;1690580;1695626;1713207;1731349;1754495;1853530;2128790;2217856 D21S1433;D21S1821;D21S406;G34555;G48503;PRSS7_3848;RH120391;RH17989;SHGC-132769;SHGC-6928 ENTK;MGC133046;PRSS7 OTTHUMP00000083248;enterokinase;enterokinase catalytic subunit;enteropeptidase;protease, serine, 7 (enterokinase);serine protease 7;transmembrane protease serine 15 APPROVED protein-coding ENSG00000154646 HGNC:9490 05972 606635 REVIEWED 1316154 TMPRSS6 transmembrane protease, serine 6 The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 22 22 22 q12.3 21262809 21300772 - 37461476 37499693 - 37065436 37109672 - 1580863;6480464;7240710;8554872;8699517 10591208;12149247;12477932;12784999;12975309;14702039;15461802;15489334;16533768;17575220;17981570;18408718;18449907;18603562;18976966;19084217;19357398;19377077;19592582;19708871;19818657;19820697;19820698;19820699;19853236;19862010;19880490;19907145;20139978;20232450;20587610;20704562;20738301;20858683;20927387;20937842;20964721;20966077;21149283;21150441;21208937;21618415;21622652;21724843;21785125;21873547;22265928;22301935;22323359;22509377;22581667;22628316;22761678;22765023;22858929;22885719;22893705;23144979;23222517;23238872;23263863;23293962;23293981;23433094;23649491;23794717;23935956;24175968;24661031;24867957 164656 B0QYB3;B0QYB6;Q8IU80;X6REP5 ABBA01055459;ABBA01055460;AJ319876;AL022314;AMYH02038330;AW295507;AY055383;AY055384;AY358398;BC039082;CH471095;CR456446;NG_012856;NM_001289000;NM_001289001;NM_153609;XM_006724162;XM_006724163 AAH39082;AAL16413;AAL16414;AAQ88764;CAC85953;CAG30332;CAK54475;CAK54774;EAW60141;EAW60142;EAW60143;NP_001275929;NP_001275930;NP_705837;Q8IU80;XP_006724225;XP_006724226 Hs.370885 2107687;2116212 TMPRSS6__5101;WI-16670 IRIDA;OTTHUMP00000197780;OTTHUMP00000197781;OTTHUMP00000197782;matriptase-2;membrane-bound mosaic serine proteinase matriptase-2;transmembrane protease serine 6;type II transmembrane serine protease 6 2302756;2302758;2302765 MAMTS4_H;MAMTS5_H;MAMTS6_H APPROVED protein-coding ENSG00000187045 HGNC:16517 10270 206200;609862 REVIEWED 1319995 TMPRSS9 transmembrane protease, serine 9 ENCODES a protein that exhibits serine-type endopeptidase activity (inferred); INVOLVED IN plasminogen activation (inferred); proteolysis (inferred); FOUND IN integral component of plasma membrane (inferred); INTERACTS WITH amiodarone; cadmium dichloride; benzo[a]pyrene (ortholog) 19 19 19 p13.3 2325619 2363578 + 2381507 2426480 + 2381507 2426482 + 6480464 12886014;14702039;16872279;20379614;23229837 360200 Q7Z410 AB109390;ABBA01002729;ABBA01002730;ABBA01002731;ABBA01002732;ABBA01002733;ABBA01002734;ABBA01002735;ABBA01002736;AC011522;AC011542;AJ488946;AJ488947;AK131261;AMYH02035197;AMYH02035198;AMYH02035199;AMYH02035200;CH471139;NM_182973;XM_005259551 AAI40387;BAD18439;BAF02295;CAD35758;CAD35759;EAW69382;NP_892018;Q7Z410;XP_005259608 Hs.465560 1772176;1793806 PMC291826P1;WI-11167 FLJ16193 polyserase 1;polyserase-1;polyserase-I;polyserine protease 1;transmembrane protease serine 9;transmembrane serine protease 9 protein-coding ENSG00000178297 HGNC:30079 07124 610477 PROVISIONAL 1320861 TMPRSS3 transmembrane protease, serine 3 This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] 21 21 21 q22.3 28940972 28965175 - 43791996 43816955 - 42371887 42396846 - 1599443;1580863;2325152;6480464;7240710;8699517;8554872 11137999;14695172 10825129;10830953;11068177;11424922;11462234;11907649;12393794;12477932;12920079;12975309;14702039;15361711;15447792;15489334;16021470;16169070;16344560;16780588;17551081;17918732;17981648;19117353;19170735;19888295;20146813;20301607;21117948;21534946;21786053;21906983;21963094;21988832;22382023;22446619;23958653;8651303 64699 B7WPR2;P57727 AB038157;AB038158;AB038159;AB038160;ABBA01014172;ABBA01014173;AF201380;AF267741;AI251446;AK131212;AK172842;AMYH02037871;AP001623;AY358458;AY633572;BC074846;BC074847;CH471079;DA643571;DB217517;KC877902;NG_011629;NM_001256317;NM_024022;NM_032404;NM_032405;NR_046020 AAG37012;AAH74846;AAH74847;AAL56664;AAQ88823;AAT66641;BAB20077;BAB20078;BAB20079;BAB20080;BAD18806;EAX09564;EAX09565;EAX09566;EAX09567;EAX09568;NP_001243246;NP_076927;NP_115780;NP_115781;P57727 Hs.208600 1704762;5022651 D11S2921;SHGC-79665 DFNB10;DFNB8;ECHOS1;TADG12 OTTHUMP00000109343;OTTHUMP00000109344;OTTHUMP00000109345;OTTHUMP00000109346;OTTHUMP00000201222;serine protease TADG-12;serine protease TADG12;transmembrane protease serine 3;tumor-associated differentially-expressed gene 12 protein APPROVED protein-coding ENSG00000160183 HGNC:11877 05696 601072;605511 REVIEWED 5132516 TMSB10P1 thymosin beta 10 pseudogene 1 2 2 q37 236790761 236791171 - 235882117 235882527 - 100506723 ABBA01042568;AC079400;AMYH02006050;NG_029007;NG_030314 thymosin beta-10-like pseudo HGNC:41949 INFERRED 6481548 TMSB10P2 thymosin beta 10 pseudogene 2 X X 18359336 18359463 + 18341216 18341343 + 100873786 ABBA01071629;AMYH02038948;NG_032381;Z93023 pseudo HGNC:41950 INFERRED 731359 TMSB10 thymosin beta 10 ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN actin cytoskeleton organization (inferred); sequestering of actin monomers (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 2 2 2 p11.2 84961655 84962691 + 85132763 85133799 + 84905639 84906675 + 6480464 10487837;11472367;11527208;12477932;12481941;12914774;14741341;15254683;15489334;15665289;1582498;16012174;1627460;16786322;16916647;1744129;18789485;19194824;19337364;2071228;20836742;21044950;21139048;21314931;2169566;21733645;21890473;21906983;22038593;22161024;22623951;22939629;23824909;24053380;3365256;8425765 9168 P63313 ABBA01075727;AC022210;AK130949;AK311952;AMYH02004161;AY453400;BC016025;BC016731;BC107889;CH471053;M20259;M92381;M92383;NM_021103;S54005 AAA36744;AAA36746;AAB25225;AAC41691;AAH16025;AAH16731;AAS47517;AAY24191;ACE86535;ACE86919;ACE87214;ACE87606;BAG34892;EAW99547;EAW99548;NP_066926;P63313 Hs.446574 2116400;5017728 G06175;TMSB10 MIG12;TB10 OTTHUMP00000160498;migration-inducing gene 12;migration-inducing protein 12;thymosin beta-10 protein-coding ENSG00000034510 HGNC:11879 01779 188399 VALIDATED 1605543 TMSB15B thymosin beta 15B ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN actin cytoskeleton organization (inferred); sequestering of actin monomers (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; cyclosporin A X X X q22.2 103652955 103656318 + 103217200 103220563 + 103962627 103965990 + 6480464 12477932;12665801;14702039;15772651;17567946;19296525 286527 H3BU88;P0CG34;P0CG35 ABBA01032846;ABBA01032847;ABBA01032848;AC234782;AC253567;AK090973;AK291479;AK311771;AL034485;BC019900;BC029803;BC035660;BC054476;BC093093;BQ011701;CH471120;NM_194324 BAF84168;BAG34714;EAX02764;NP_919305;P0CG35 Hs.56145;Hs.675540;Hs.709594 2184647;5095072 STS-H99198;TMSL8 MGC39900;Tbeta15b thymosin beta-15B;thymosin beta15b protein-coding ENSG00000158427 HGNC:28612 17546 VALIDATED 1349163 TMSB4XP1 thymosin beta 4, X-linked pseudogene 1 1 1 1 p34.2 41247474 41248020 - 42965452 42966088 - 42499781 42500417 - 12477932;21906983 7115 ABBA01023132;AL445669;AMYH02000879;BC101199;BC101200;NG_004714 Hs.655548 2220556 UniSTS:484739 TMSL1 APPROVED pseudo HGNC:11883 10271 INFERRED 1602496 TMSB15A thymosin beta 15a ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN actin cytoskeleton organization (inferred); sequestering of actin monomers (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 17beta-estradiol; 5-fluorouracil; aflatoxin B1 X X X q21.33-q22.3 102207240 102210329 - 101768610 101771699 - 102513682 102516771 - 6480464 12477932;12665801;14702039;15489334;15772651;17388661;17567946;17888914;18452710;18754322;19296525;23079573;8946830;9039501 11013 P0CG34;P0CG35 ABBA01020941;AF086495;AL035609;AMYH02040159;BC000183;BG829126;BU599402;CH471190;D82345;NM_021992 AAH00183;BAA11556;EAW54739;NP_068832;P0CG34 Hs.56145 1646011;1678727 RH80772;SHGC-57323 TMSB15;TMSB15B;TMSL8;TMSNB;Tb15;TbNB NB thymosin beta;OTTHUMP00000023713;Thymosin beta-15B;thymosin beta-15A;thymosin, beta, identified in neuroblastoma cells;thymosin-like 8;thymosin-like protein 8 protein-coding ENSG00000158164 HGNC:30744 06744 601587 VALIDATED 6481516 TMSB4XP3 thymosin beta 4, X-linked pseudogene 3 7 7 29665480 29665617 + 29625864 29626001 + 100873877 ABBA01056799;AC007276;AMYH02015446;NG_032206 pseudo HGNC:38587 INFERRED 1353589 TMSB4XP5 thymosin beta 4, X-linked pseudogene 5 11 11 11 q12.3 60611989 60612510 - 63287903 63288424 - 63520431 63520952 - 7119 ABBA01003255;AMYH02024911;AP001591;NG_002996 TMSL5 APPROVED pseudo HGNC:11887 INFERRED 1352522 TMSB4XP2 thymosin beta 4, X-linked pseudogene 2 2 2 2 p25.3 3673816 3674353 - 3664728 3665350 - 3617138 3617760 - 12477932;2004759;21906983 7116 ABBA01006102;AC010907;AMYH02003196;BC104196;BC104197;BC113076;NG_004719;NG_031954 Hs.732552 2220478;2220672 UniSTS:483400;UniSTS:490061 MGC125884;MGC125885;TMSL2 APPROVED pseudo HGNC:11884 10272 INFERRED 736781 TMSB4X thymosin beta 4, X-linked This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. [provided by RefSeq, Jul 2008] X X X q21.3-q22 17110896 17113015 + 12993226 12995346 + 12975107 12977227 + 6480464 10611475;10777749;10848969;11311852;11812134;12163032;12477932;12852258;12962156;1330091;14592829;14702039;15163409;15235586;15311936;15466884;15565145;15698487;1584803;16010977;16169070;16272158;16364925;16423999;16515784;16949646;16956606;17200658;17495243;17495244;17495251;17567947;17600283;17600285;17967441;17984099;18094619;18519035;19337364;1999398;2004759;20128033;20161756;20195357;20566622;20691219;20706999;20821256;20975530;21106936;21109953;21139048;21213129;21314931;21332672;21496200;21514425;21742406;21890473;21900206;21906983;22004227;22145905;22328534;22505724;22652458;22944663;23000965;23045970;23055022;23235961;23262355;23613983;23811404;23816466;23967050;24098025;24355709;2677145;2998351;3500230;6548414;6838210;8252614;8617195;8630056;9153421;9194528;9381176;9647778 7114 A2VCK8;P62328;Q0P5T0 ABBA01071063;AC139705;AJ295158;AK055976;AK057827;AK311747;AMYH02038887;AV715954;BC001631;BC016732;BC022857;BC061586;BC062436;BC064954;BC070248;BC070249;BC083509;BC092437;BC101790;BC101792;BC104464;BC104465;BC104666;BC107789;BC128102;BC128103;BC139925;BC141975;BC141976;BC151215;BT007090;CH471074;M11948;M17733;NM_021109;X02493 AAA36745;AAH01631;AAH16732;AAH22857;AAH61586;AAH62436;AAH64954;AAH70248;AAH83509;AAH92437;AAI01791;AAI01793;AAI04465;AAI04466;AAI04667;AAI28103;AAI28104;AAI39926;AAI41976;AAI41977;AAI51216;AAP35753;BAG34690;CAA26323;CAC43317;EAW98810;EAW98811;EAW98812;EAW98813;EAW98814;NP_066932;P62328 Hs.437277;Hs.703237 2127342;2220478;2220634;5109691;5113613 D9S1007E;G34979;SHGC-182;UniSTS:483400;UniSTS:486843 FX;PTMB4;TB4X;TMSB4 OTTHUMP00000022926;OTTHUMP00000022927;prothymosin beta-4;t beta-4;thymosin beta-4;thymosin, beta 4, X chromosome;thymosin, beta 4, X-linked APPROVED protein-coding ENSG00000205542 HGNC:11881 02153 300159 REVIEWED 1343307 TMSB4XP8 thymosin beta 4, X-linked pseudogene 8 INTERACTS WITH thapsigargin; tunicamycin 4 4 4 q22.1 89051102 89051735 - 91759636 91760266 - 90838485 90839115 - 19322201;2004759;21139048;21906983 7117 ABBA01063579;AC019188;AMYH02009723;NG_028923 1677190;2220478 RH91868;UniSTS:483400 TMSL3 OTTHUMP00000161564;OTTHUMP00000219612;OTTHUMP00000219613;thymosin beta-4-like protein 3 APPROVED pseudo HGNC:11885 10273 INFERRED 1348395 TMSB4XP7 thymosin beta 4, X-linked pseudogene 7 X X X q23 114802652 114803238 + 114367476 114368062 + 115132913 115133499 + 2004759 7121 ABBA01053643;AL445164;AMYH02040272;NG_002997;NG_021299 1663134 DXS7310 TMSL7 APPROVED pseudo HGNC:11889 INFERRED 1354108 TMSB4Y thymosin beta 4, Y-linked This gene lies within the male specific region of chromosome Y. Its homolog on chromosome X escapes X inactivation and encodes an actin sequestering protein. [provided by RefSeq, Jul 2008] X Y Y q11.221 2798153 2800610 + 15815447 15817904 + 13703567 13706024 + 1580863;6480464 12477932;12815422;15489334;15557202;16189514;19369144;21044950;8416954;8838802;9381176;9847074 9087 O14604 ABBA01065493;AC006371;AF000989;BC022482;BC119763;BC119764;CH471155;NM_004202 AAC51836;AAD54509;AAI19764;AAI19765;EAW91614;NP_004193;O14604 Hs.159201 1686955;1856845;2108583;2113584;2188833;5020687;5021646 G34981;G65843;G65844;RH45846;TMSB4Y-2;TMSB4Y_8894;sY1230 MGC26307;TB4Y OTTHUMP00000034560;thymosin beta-4, Y isoform;thymosin beta-4, Y-chromosomal;thymosin, beta 4, Y chromosome APPROVED protein-coding ENSG00000154620 HGNC:11882 02458 400017 REVIEWED 1605430 TMSB4XP4 thymosin beta 4, X-linked pseudogene 4 ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN actin cytoskeleton organization (inferred); sequestering of actin monomers (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2-nitrofluorene (ortholog) 9 9 9 q34.11 101755238 101755977 + 131104433 131105053 + 128342154 128342774 + 6480464 7118 Q5T4B6 ABBA01043877;AL359091;AMYH02021712;NG_004715;NG_017057 2220634 UniSTS:486843 TMSL4 APPROVED pseudo HGNC:11886 10274 INFERRED 1605429 TMSB4XP6 thymosin beta 4, X-linked pseudogene 6 INTERACTS WITH 5-fluorouracil; cisplatin 20 20 20 q13.13 46161075 46161730 - 49456748 49457364 - 50840211 50840827 - 6480464 12477932;2004759;21906983 7120 ABBA01052789;AL133228;AMYH02037246;BC112282;NG_006508 Hs.381178 2220552 UniSTS:484435 TMSB4L;TMSL6;dJ1071L10.1 APPROVED pseudo HGNC:11888 10275 INFERRED 1605852 TMTC2 transmembrane and tetratricopeptide repeat containing 2 INVOLVED IN calcium ion homeostasis; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; endoplasmic reticulum membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; atrazine 12 12 12 q21.31 82748495 83195421 + 83080731 83528647 + 82687155 83134868 + 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16381901;18519826;19386601;19625618;20379614;20662065;21145461;22219177;22542470;23333304;24250222;24764305 160335 F8VRQ2;F8VSH2;Q8N394 ABBA01053458;ABBA01053459;ABBA01053460;ABBA01053461;ABBA01053462;ABBA01053463;ABBA01053464;ABBA01053465;ABBA01053466;AC079595;AC090667;AC090680;AC091214;AC117375;AK074634;AK299771;AK315285;AL834509;AMYH02026849;AMYH02026850;AMYH02026851;AMYH02026852;AMYH02026853;AMYH02026854;AMYH02026855;AX795392;AX795394;BC047464;BC071614;BC093852;BC093854;BC098572;BC143378;CH471054;NM_152588;XM_005268680 AAH93852;AAH93854;BAC11102;BAG37694;BAH13125;CAD39165;CAE48265;CAE48266;CAL38019;EAW97384;EAW97385;NP_689801;Q8N394;XP_005268737 Hs.577775 1336980;1674506;1695606;1696918;1703320;1705286;1718427;1720051;1721143;1746833;1857732;1857977 D12S1670;D12S1981;G59406;G64859;RH101927;RH122415;RH123822;RH68611;SHGC-68374;SHGC-68557;SHGC-78600;STS-M79221 DKFZp762A217;IBDBP1 IBDBP1 transcript 2;IBDBP1, transcript 1;OTTHUMP00000241962;OTTHUMP00000241964;OTTHUMP00000241965;transmembrane and TPR repeat-containing protein 2 protein-coding ENSG00000179104 HGNC:25440 13230 615856 PROVISIONAL 1605568 TMTC3 transmembrane and tetratricopeptide repeat containing 3 This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010] 12 12 12 q21.32 88204154 88261758 + 88536073 88593664 + 88142296 88199887 + 6480464;8554872 11076863;11230166;12477932;14702039;15489334;15489336;16381901;21139048;21603654;21890473;21956870 160418 A8K321;F8VR71;F8VRY4;F8W044;Q6ZXV5 ABBA01053427;ABBA01053428;AC087865;AC091516;AC127901;AJ697717;AK023165;AK074973;AK290436;AK302755;AK310375;AK310393;AMYH02026897;BC117175;BC117177;BG287027;BX538169;CH471054;CR737828;CR749244;CR749309;CR933632;CR936640;KF455688;NG_021187;NM_181783;XM_005268682;XM_005268683;XM_005268684 AAI17176;AAI17178;ADR83426;BAC11325;BAF83125;BAG63967;CAD98046;CAG26973;CAH18100;CAH18164;CAI45938;CAI56780;CAL38672;EAW97415;NP_861448;Q6ZXV5;XP_005268739;XP_005268740;XP_005268741 Hs.331268 1683108;1744317;2172397 GDB:451670;RH66244;RH92827 DKFZp686C0968;DKFZp686M1969;DKFZp686O22167;DKFZp686O2342;FLJ90492 OTTHUMP00000242386;SMILE;transmembrane and TPR repeat-containing protein 3 APPROVED protein-coding ENSG00000139324 HGNC:26899 10243 REVIEWED 1606198 TMTC4 transmembrane and tetratricopeptide repeat containing 4 ASSOCIATED WITH Melanoma (inferred); Worster Drought syndrome (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; atrazine 13 13 13 q32.3 82100323 82171290 - 101256090 101327103 - 100603836 100674935 - 6480464;8554872 11076863;11230166;11991713;12477932;14702039;15057823;15489334;15489335;15489336;16094384;16344560;16381901;19322201 84899 C9K0R2;H7C095;Q5T4D3;X6RF05 ABBA01027086;ABBA01027087;ABBA01027088;AF339792;AK027530;AK056409;AK092653;AK124599;AK290345;AK299859;AL359085;AMYH02028610;AMYH02028611;AMYH02028612;AW513848;BC018707;BG830268;BX647956;BX648008;CH471085;CV029196;DA368450;DC377683;NM_001079669;NM_001286453;NM_032813;XM_005254080;XM_005254082;XM_006719954;XM_006719955 AAH18707;BAB55179;BAF83034;BAH13152;CAL37901;EAX09040;EAX09041;EAX09042;EAX09043;NP_001073137;NP_001273382;NP_116202;Q5T4D3;XP_005254137;XP_005254139;XP_006720017;XP_006720018 Hs.190983 1643672;1848635;2151606 A007J11;NIB1408;RH47425 FLJ14624;FLJ22153 OTTHUMP00000018648;OTTHUMP00000018651;OTTHUMP00000215105;transmembrane and TPR repeat-containing protein 4 protein-coding ENSG00000125247 HGNC:25904 07864 VALIDATED 1604292 TMUB2 transmembrane and ubiquitin-like domain containing 2 FOUND IN integral component of membrane (inferred); INTERACTS WITH 2-methylcholine; amiodarone; cobalt dichloride 17 17 17 q21.31 38973088 38977832 + 42264300 42269099 + 44186956 44191731 + 6480464 11076863;11230166;12477932;12975309;14702039;15489334;15489336;15498874;16381901;21139048;21890473;21906983;23000965;8619474;9110174 79089 E7ESS3;K7EJF7;K7EKW3;K7EPS1;K7ESL5;Q71RG4 ABBA01028383;AC004596;AF289564;AF370373;AK021759;AK096631;AK294198;AL533563;AL538440;AL833899;AMYH02033472;AY007092;AY358780;BC001792;BC004306;BC063489;BI906577;CH471178;NM_001076674;NM_024107;NM_177441;XM_005257650;XM_006722076 AAH01792;AAH04306;AAH63489;AAL55748;AAQ15209;AAQ89140;BAB13886;BAG53343;BAG57512;CAD38755;CAL38416;EAW51624;NP_001070142;NP_077012;NP_803190;Q71RG4;XP_005257707;XP_006722139 Hs.181391 1734482;2140699;2140701;2172594;2191769;5015861;5015961;5016478;5020740;5022322;5022578;5022651;5024761;7185938 A005Q19;D10S16;D11S2560;D11S2921;D15S1477;D17S1439E;D1S1423;G20416;GDB:434012;L17809;MARC_7251-7252:996687693:1;RH16013;RH36905 FP2653;MGC3123 transmembrane and ubiquitin-like domain-containing protein 2 protein-coding ENSG00000168591 HGNC:28459 14542 VALIDATED 5133077 TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring TMX2 (thioredoxin-related transmembrane protein 2) and CTNND1 (catenin, cadherin-associated protein, delta 1) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 11 11 57479995 57586652 + 57712523 57819180 + 6480464;8554872 20967262;9205841 100528016 H3BSU7 AB002382;ABBA01021475;ABBA01021476;ABBA01021477;ABBA01021478;ABBA01021479;ABBA01021480;ABBA01021481;AMYH02024844;AMYH02024845;AMYH02024846;AMYH02024847;AMYH02024848;AMYH02024849;AMYH02024850;AMYH02024851;AP000662;AP001931;NR_037646 BAA20838 Hs.166011 1744367;2156883 GDB:451855;RH47458 KIAA0384 APPROVED ncrna ENSG00000254462 HGNC:41992 VALIDATED 1318232 TMX1 thioredoxin-related transmembrane protein 1 TXNDC1 is a thioredoxin (TXN; see MIM 187700)-related protein with disulfide reductase activity (Matsuo et al., 2001 [PubMed 11152479]).[supplied by OMIM, Mar 2008] 14 14 14 q22.1 31573863 31591352 + 51706886 51724373 + 51240168 51257655 + 6480464;8554872 11152479;12477932;12508121;12975309;15302935;15489334;16303743;16344560;17081983;18029348;19322201;19741092;20000738;21139048;21890473;21906983;21987572;21988832;22045338;22228764;22304920;22505724;22924822;22939629;23000965;23503679;23798571;24250222;24816145;25027693 81542 B4DZX7;G3V448;Q9H3N1 AB048246;ABBA01018151;AK075395;AK302416;AK303134;AK312905;AL080080;AL591807;AMYH02029178;AY358640;BC016769;BC032834;BC036460;BC050366;BC056874;BU754378;CH471078;DA203669;NM_030755 AAH36460;AAH56874;AAQ89003;ABM82600;ABM85786;BAB20629;BAC11593;BAG35751;BAG64239;BAH13701;CAB45700;EAW65678;EAW65679;NP_110382;Q9H3N1 Hs.125221 1689005;1690922 RH65082;RH93716 DKFZp564E1962;PDIA11;TMX;TXNDC;TXNDC1 OTTHUMP00000244862;protein disulfide isomerase family A, member 11;thioredoxin domain containing;thioredoxin domain containing 1;thioredoxin domain-containing protein 1;transmembrane Trx-related protein APPROVED protein-coding ENSG00000139921 HGNC:15487 15590 610527 VALIDATED 1603042 TMX2 thioredoxin-related transmembrane protein 2 INVOLVED IN cell redox homeostasis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog) 11 11 11 cen-q22.3 54836522 54865161 + 57479995 57508445 + 57712523 57740973 + 6480464 10810093;12477932;12670024;12975309;16303743;21139048;21890473;21900206;21906983;21963094;21987572;22045338;22939629;23000965;23275563;25027693;8125298 51075 E9PLR1;E9PRL5;E9PSF0;G3V155;Q9Y320 ABBA01021475;ABBA01021476;ABBA01021477;AF059753;AF132965;AK075359;AK223058;AK297688;AK298065;AK312990;AL037895;AMYH02024844;AMYH02024845;AMYH02024846;AP000662;AP001931;AY358501;AY451236;AY451237;BC000666;BC093062;BI762960;BQ686696;CD690929;CH471076;NM_001144012;NM_015959;NR_026593;NR_037645 AAD27740;AAG43122;AAH00666;AAH93062;AAQ88865;AAS66642;BAC11569;BAD96778;BAG35827;BAH12650;BAH12716;EAW73777;EAW73778;EAW73779;EAW73780;NP_001137484;NP_057043;Q9Y320 Hs.654965 1725705;1749087;1777157;1782246;2164896 D11S4605;G62115;RH18244;SHGC-110745;SHGC-111424 CGI-31;DKFZp781O2021;MGC111151;PDIA12;PIG26;TXNDC14 OTTHUMP00000235468;OTTHUMP00000235470;cell proliferation-inducing gene 26 protein;growth-inhibiting gene 11;proliferation-inducing gene 26 protein;protein disulfide isomerase family A, member 12;thioredoxin domain containing 14;thioredoxin domain-containing protein 14 protein-coding ENSG00000213593 HGNC:30739 VALIDATED 9586295 TMX2P1 thioredoxin-related transmembrane protein 2 pseudogene 1 9 9 9 p13.2 37818853 37820744 + 37885680 37887570 + 37885683 37887573 + 100233198 ABBA01050385;AL138752;AMYH02019504;NG_009211 pseudo HGNC:49916 INFERRED 1605326 TMTC1 transmembrane and tetratricopeptide repeat containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; aflatoxin B1 12 12 12 p11.22 34799099 35083077 - 29653746 29937692 - 29500813 29784759 - 6480464;8554872 12477932;14702039;15489334;17903295;18187620;19913121;20379614;20445134;20628086;20877624;22885689;24764305 83857 B3KVW1;F8VTQ9;F8VXU8;H0YIB9;Q8IUR5 ABBA01068077;ABBA01068078;ABBA01068079;ABBA01068080;ABBA01068081;AC009320;AC009510;AC012151;AC022078;AF319520;AF433169;AK022989;AK055962;AK123619;AK127297;AL832328;AMYH02026260;AMYH02026261;AMYH02026262;AMYH02026263;AMYH02026264;BC007383;BC017984;BC028716;BC039460;BC042083;BG413338;CH471094;GQ865601;KF455630;NM_001193451;NM_175861;XM_005253498;XM_005253499;XM_005253500;XM_005253501;XM_005253502;XM_006719156 AAH28716;AAH42083;AAK32121;AAQ04260;ACX30004;BAB71057;BAC86923;BAG53923;EAW96598;EAW96601;NP_001180380;NP_787057;Q8IUR5;XP_005253555;XP_005253556;XP_005253557;XP_005253558;XP_005253559;XP_006719219 Hs.401954 1337537;1653786;1661861;1677384;1680182;1690165;1690242;1691148;1694604;1725923;1726101;1726127;1746487;1756003;1856135;1856358;2106429;2128560;2167410;2176095;2177946;7183824 ARG99__4354;D12S1225E;D12S1457;D12S1988;D12S2005;D12S333;G43300;G62368;G62394;G62397;G64651;RH65525;RH77881;RH91561;RH92646;RH93823;RH98257;SHGC-142816;SHGC-53547;STS-N20186;STS-N25971 ARG99;FLJ31400;FLJ41625;OLF;TMTC1A OTTHUMP00000240801;OTTHUMP00000240802;OTTHUMP00000240803;OTTHUMP00000240804;transmembrane and TPR repeat-containing protein 1;transmembrane and tetratricopeptide repeat containing 1A protein-coding ENSG00000133687 HGNC:24099 12472 615855 VALIDATED 1348440 TMX3 thioredoxin-related transmembrane protein 3 ENCODES a protein that exhibits isomerase activity (inferred); INVOLVED IN cell redox homeostasis (inferred); metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell surface; INTERACTS WITH aflatoxin B1; copper(2+) sulfate; cyclosporin A 18 18 18 q22 63187511 63228954 - 66340925 66382535 - 68673688 68715298 - 737633;1580863;6480464;8554872 12477932 11076863;11230166;11347906;14702039;15489334;15489336;15623505;16381901;17881353;19240061;19322201;19615732;19995400;20485507;21832049;21906983;21963094;23728934;24250222;24457600;24816145 54495 B4DIE3;F5H4F7;H3BPB3;H3BRY0;H3BT89;H3BVI1;Q96JJ7 AB058733;ABBA01056275;AC040896;AK000800;AK025025;AK122715;AK295551;AK307269;AK310389;AL832341;AL832356;AMYH02034919;BC007690;BC018981;BC032325;BC093792;BC093794;BC107422;BC143400;BX647846;CH471117;NM_019022;XM_005266711;XM_005266713;XM_005266714 AAH32325;AAH93792;AAH93794;AAI07423;BAA91381;BAB47459;BAG53687;BAG58455;CAL38084;CAL38173;EAW66508;EAW66509;NP_061895;Q96JJ7;XP_005266768;XP_005266770;XP_005266771 Hs.440534 1678259;1680014 RH92978;RH98336 FLJ20793;KIAA1830;PDIA13;TXNDC10 protein disulfide isomerase family A, member 13;protein disulfide-isomerase TMX3;thioredoxin domain containing 10;thioredoxin domain-containing protein 10 protein-coding ENSG00000166479 HGNC:24718 15591 VALIDATED 1349176 TMUB1 transmembrane and ubiquitin-like domain containing 1 FOUND IN cytoplasm; nucleus; INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 7 7 7 q36.1 145335504 145337952 - 150778172 150780620 - 151081085 151083533 - 6480464 12477932;12690205;12975309;15489334;16014383;16344560;18029348;19254477;20582322;21139048;21343306;21832049;21890473;21906983;21963094;21987572;22053931;22505724;23000965;23798571;24816145;25015289 83590 C9JCW7;C9JE12;Q9BVT8 AACC02000108;ABBA01035166;ABBA01035167;AC010973;AK314035;AMYH02017068;AY037155;AY358481;AY603380;BC000936;BC033182;CH471173;DA355717;NM_001136044;NM_031434 AAH00936;AAH33182;AAK67645;AAQ88845;AAU00156;BAG36745;EAL24501;EAW54030;EAW54031;EAW54032;NP_001129516;NP_113622;Q9BVT8 Hs.726215 2137092 D7S469E C7orf21;DULP;MGC5442;SB144 OTTHUMP00000213150;OTTHUMP00000213151;OTTHUMP00000213152;OTTHUMP00000213154;OTTHUMP00000213155;OTTHUMP00000213156;dendritic cell-derived ubiquitin-like protein;hepatocyte odd protein shuttling protein;transmembrane and ubiquitin-like domain-containing protein 1;ubiquitin-like protein DULP;ubiquitin-like protein SB144 protein-coding ENSG00000164897 HGNC:21709 12910 614792 VALIDATED 1603023 TMX4 thioredoxin-related transmembrane protein 4 INVOLVED IN cell redox homeostasis (inferred); oxidation-reduction process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP 20 20 20 p12 8031292 8069972 - 7961713 8000393 - 7981066 8019746 - 6480464 10574461;11780052;12477932;12975309;14702039;15489334;16303743;17081983;18029348;19811453;20056998;21963094;24250222;8125298 56255 E9PIN7;E9PIU6;Q9H1E5 AB032988;ABBA01053918;ABBA01053919;AK074838;AK075404;AK226005;AL021396;AL118494;AMYH02036677;AMYH02036678;AY359004;BC021964;BC033787;BC044777;CH471133;CS051207;NM_021156 AAH33787;AAQ89363;BAA86476;BAC11237;BAC11599;CAB56344;CAI72099;EAX10377;NP_066979;Q9H1E5 Hs.169358 1661523;1679381;1687031;1707678;1768217;2122826;2157408;5037552;5094054 D20S1128;D8S2279;G34944;RH11682;RH64133;RH66954;SHGC-67771;SHGC-82009;WI-18137 DJ971N18.2;KIAA1162;PDIA14;TXNDC13 OTTHUMP00000030232;OTTHUMP00000232278;protein disulfide isomerase family A, member 14;thioredoxin domain containing 13;thioredoxin domain-containing protein 13 protein-coding HGNC:25237 11128 PROVISIONAL 1346510 TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial) This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008] 17 17 17 q22-q23 23524290 23535780 + 26662548 26674035 + 28335522 28347009 + 1580863;6480464 11591653;11702059;11704801;11791643;11849463;11929592;12039524;12477932;12600716;1370465;15489334;16344560;16565220;16870576;18029348;19196817;19593659;19615732;19637314;19782033;19851886;20158880;20309963;21139048;21145461;21890473;21906983;21963094;21987572;21988832;2233719;22505724;22810651;23000965;23455924;23912453;2406243;7536959 7126 J3QS43;J3QSD4;K7EM01;Q13829 ABBA01015060;AC002094;AK300584;AK312387;AMYH02033221;AY065346;BC001643;BC001949;BC003694;BT020121;CH471159;CR456819;DB093553;M80783;NM_021137 AAA58385;AAH01643;AAH01949;AAL38649;AAV38924;ABM83684;ABM86981;BAG35304;BAH13310;CAG33100;EAW51077;NP_066960;Q13829 Hs.76090 1685435;1686670;1769154;2107689 RH64867;RH64911;SHGC-31509;TNFAIP1__5106 B12;B61;BTBD34;EDP1;MGC2317;hBACURD2 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2;BTB/POZ domain-containing protein TNFAIP1;OTTHUMP00000163324 APPROVED protein-coding ENSG00000109079 HGNC:11894 01856 191161 REVIEWED 1351235 TNFAIP5 tumor necrosis factor, alpha-induced protein 5 7129 HGNC:11897 1312234 TNFAIP2 tumor necrosis factor, alpha-induced protein 2 This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008] 14 14 14 q32 83646666 83657739 + 103589762 103603776 + 103126327 103137439 + 1580863;6480464 10766166;12477932;1374453;19339270;19913121;20157331;20237496;20628086;20628624;21057457;21139048;21399635;21555518;21921781;21934093;22797925;22939629;23438482;23724109;23975427;8106408 7127 H0YKI8;H0YKR7;H0YKY9;H0YL88;H0YLC0;H0YM45;Q03169 ABBA01048434;AK302929;AK303781;AK309854;AK316496;AL161669;AMYH02029917;AY273786;BC017818;BC128449;BC128450;CH471061;M92357;NM_006291;XM_006720243 AAA35582;AAI28450;AAP12649;BAG64090;BAG64740;BAH14867;EAW81805;NP_006282;Q03169;XP_006720306 Hs.525607;Hs.736562 2135425 RH17752 B94;EXOC3L3 TNF alpha-induced protein 2;exocyst complex component 3-like 3;primary response gene B94 protein;tumor necrosis factor alpha-induced protein 2 APPROVED protein-coding ENSG00000185215 HGNC:11895 04487 603300 REVIEWED 1349059 TNFAIP7 tumor necrosis factor, alpha-induced protein 7 7131 HGNC:11899 1345645 TNFAIP6 tumor necrosis factor, alpha-induced protein 6 The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010] 2 2 2 q23.3 145828376 145850827 + 152214106 152236562 + 151357592 151380048 + 1580863;6480464;7777184;7777185;7777186;7777188;7777183 16650051;20837529;21837654;22297496;22912904 11278699;11375929;11854277;12401803;12477932;12692188;14515153;14718574;15060082;15489334;15653696;15718240;15809059;15840581;15917224;16006654;16453284;16467113;16687630;16709183;16771708;16873769;17207965;1730767;17585936;18042364;18260761;18448433;18586671;18820257;19344623;19383344;19389798;20237496;20463016;20602615;20628624;21239672;21566135;21596748;21864707;22267482;22922154;23017666;23129777;23143601;23166324;23314748;23921952;24005673;24403066;24501198;7516184;7935377;8454591;8568267;8797823;9654129 7130 P98066 ABBA01004768;ABBA01004769;ABBA01004770;AC009311;AF086484;AJ413948;AJ413949;AJ419936;AJ421518;AMYH02004977;AMYH02004978;AU102580;BC030205;CA307541;CA415298;CH471058;CS722271;M31165;NM_007115 AAB00792;AAH30205;AAY15067;ADQ32479;CAD12353;CAD13434;CAQ43122;EAX11511;NP_009046;P98066 Hs.437322 1711208;1796966 SHGC-85360;TNFAIP6_1246 TSG-6;TSG6 OTTHUMP00000162710;TNF alpha-induced protein 6;TNF-stimulated gene 6 protein;hyaluronate-binding protein;tumor necrosis factor alpha-inducible protein 6;tumor necrosis factor-inducible gene 6 protein;tumor necrosis factor-inducible protein 6;tumor necrosis factor-stimulated gene-6 protein APPROVED protein-coding ENSG00000123610 HGNC:11898 02680 600410 REVIEWED 1354144 TNC tenascin C This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011] 9 9 9 q33 88430273 88527747 - 117781854 117880536 - 115019575 115118257 - 1580863;4889566;4889589;4889573;4889600;4889561;4889568;4889569;4889572;4889562;4889567;4889609;4889571;4889599;4889619;4889612;4889595;4889614;4889570;4889598;4889565;4889591;4889564;4889618;4889594;6480464;6484113;6907045;8699517;7240710;8554872 10950882;11085900;11454990;12605648;12916355;15565633;15879421;16115819;16690978;16782755;16928692;17001473;17125141;17999372;18305139;19288153;19589197;19721293;20528622;20554738;20816680;20833777;9310019;9780295 10103110;10953015;11313993;11470832;11668187;11714809;11850444;11920587;11948127;12168675;12182416;12209613;12351514;12388760;12477932;12557222;12759243;1279805;1385416;14618612;14981900;15001984;15024713;15059978;15073129;15178565;15239346;15342556;15455729;15469480;15511229;15530854;15558324;15816617;15844597;15892123;15983124;16091738;16100012;16144346;16157221;16210410;16245312;16259977;16292494;16335952;16388320;16461331;16493581;16502470;16891397;16926030;16996565;17013087;1704365;1707164;17083689;17181107;17188181;17188391;1719530;17202312;17311283;17584833;17616673;17681310;17901052;17983425;18029348;18061975;18062933;18173448;18177748;18353721;18502153;18504437;18695899;18751374;18757408;18794852;18815154;19070467;19147558;19287959;19326143;19405959;19459858;19484261;19561617;19581738;19688689;19748582;19887451;19944367;20042668;20083228;20107185;20232238;20346360;20379614;20453000;20583170;20613589;20622113;20651280;20653781;20678196;20708078;20727496;20729912;21039988;21091771;21183183;21281808;21298289;21350305;21403679;21496259;21501293;21512282;21559807;21762512;21763295;21839747;21862932;21885141;21951663;21997179;22039306;22110694;22118674;22219177;22495383;22511780;22699754;22760918;22851489;22951722;23064399;23128233;23192621;23269478;23280617;23454256;23485472;23637968;23645740;23656926;23708783;23742930;23834524;23882691;23936043;23963648;23998545;24063281;24145401;2466295;24696262;24722824;24808173;25016707;7499434;7523411;7524681;7531707;7541634;7559467;7680113;7693733;7694284;8548761;8769660;8798654;8824254;9314546;9341124;9565552 3371 B4E1W8;E9PC84;F5H5D6;F5H7V9;H0YGZ3;J3QSU6;P24821;Q4LE33 AB210038;ABBA01042657;ABBA01042658;AI266750;AI964017;AK304015;AL162425;AMYH02021523;BC151843;BP278052;BP279008;BQ575939;BQ880861;BU860660;BX100095;BX641111;CH471090;CX871573;EU295718;GU473235;M24630;M55618;M96686;NG_029637;NM_002160;X56160;X78565;X80280;XM_005251972;XM_005251973;XM_005251974;XM_005251975;XM_006717096;XM_006717097;XM_006717098;XM_006717099;XM_006717100;XM_006717101 AAA36728;AAA52703;AAA88083;AAI51844;ABX89318;ADD10730;BAE06120;BAG64930;CAA39628;CAA55309;CAE46051;EAW87434;EAW87435;NP_002151;P24821;XP_005252029;XP_005252030;XP_005252031;XP_005252032;XP_006717159;XP_006717160;XP_006717161;XP_006717162;XP_006717163;XP_006717164 Hs.143250;Hs.734766 1339215;1653868;1660283;1684778;1690143;1746011;1747913;2118169;2153294;2157723;2158272;2170685;2181013;2187174;5022651 AFM206ZE3;D11S2921;D9S1713;D9S51;G15905;G66894;RH121986;RH46318;RH48393;RH67973;RH92351;STS-AA029758;STS-M55618;STS-U44098;WI-18981 150-225;DFNA56;GMEM;GP;HXB;JI;MGC167029;TN;TN-C GP 150-225;OTTHUMP00000022738;OTTHUMP00000237658;OTTHUMP00000237659;OTTHUMP00000237669;OTTHUMP00000237695;cytotactin;deafness, autosomal dominant 56;glioma-associated-extracellular matrix antigen;hexabrachion (tenascin);myotendinous antigen;neuronectin;tenascin;tenascin-C additional domain 1;tenascin-C isoform 14/AD1/16 APPROVED protein-coding ENSG00000041982 HGNC:5318 01756 187380;615629 REVIEWED 1314220 TNFAIP8 tumor necrosis factor, alpha-induced protein 8 ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity involved in apoptotic process; INVOLVED IN negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3-dimethoxynaphthalene-1,4-dione 5 5 5 q23.1 114558091 114683993 + 118604418 118730294 + 119268692 119394604 + 1580863;6480464 10233894;10644768;12477932;14702039;14724590;15342556;16189514;16344560;17207965;17353931;19112178;20398053;20699119;22631659;22666399;22863883;22886548;23280553;23299407;24136748;24464924;24590269;24767861;8889548 25816 B3KUI2;D6RCM8;E5RIJ3;J3KQT8;O95379 ABBA01068976;ABBA01068977;AC008475;AC027320;AC035144;AF070671;AF098933;AF098934;AF099935;AF099936;AK001850;AK001931;AK097284;AK097884;AK301281;AMYH02012056;AMYH02012057;BC005352;BC007014;BE958495;BP274520;CB241243;CH471086;CR457137;DA278032;DB114867;DB124282;DC391074;KF457979;NM_001077654;NM_001286813;NM_001286814;NM_001286815;NM_001286817;NM_014350;XM_006714584 AAC72975;AAC72976;AAC83229;AAF29435;AAH05352;AAH07014;ADQ32859;BAG50983;BAG50994;BAG53444;BAH13449;CAG33418;EAW48913;EAW48914;NP_001071122;NP_001273742;NP_001273743;NP_001273744;NP_001273746;NP_055165;O95379;XP_006714647 Hs.618488;Hs.656274 1656892;1665237;1672678;1675824;1697230;1754179;1769700;2157524;2177237 A004P34;D16S3333;RH102109;RH16153;RH45932;RH68508;RH69758;RH93581;SHGC-132203 GG2-1;MDC-3.13;NDED;SCC-S2;SCCS2 NF-kappa-B-inducible DED-containing protein;OTTHUMP00000222960;OTTHUMP00000222961;OTTHUMP00000222962;OTTHUMP00000223172;TNF alpha-induced protein 8;TNF-induced protein GG2-1;head and neck tumor and metastasis-related protein;tumor necrosis factor alpha-induced protein 8 protein-coding ENSG00000145779 HGNC:17260 18204 612111 VALIDATED 1351803 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012] 6 6 6 q23 138928721 138944581 + 138188325 138204451 + 137867188 137883314 + 1580863;6480464;6484113;6907045;7800734;7800735 21119682;23312890 10385526;10435631;10544141;10755617;11009421;11389905;11390377;11463333;11573245;11594795;12080044;12167698;12477932;12586352;12794157;12885753;12965196;14574404;14748687;14754897;15142865;15169888;15231748;15251990;15258597;15474016;15489334;15601843;15661910;15862966;16164629;16306043;16344560;16474993;16684768;16816117;16824518;16936197;17081983;17088249;17259397;17297453;17886247;17953374;17961127;17962196;17982456;18029035;18029348;18164316;18223652;18246070;18329387;18349075;18794853;18813897;18814951;19060883;19110536;19124729;19131965;19152111;19165918;19165919;19169254;19240061;19258598;19262574;19285159;19292917;19336370;19344623;19366996;19380636;19380639;19387456;19412163;19453261;19492975;19494296;19565500;19608751;19615732;19617629;19643665;19648161;19774492;19838193;19851077;19879194;19902201;19907439;19912257;19913121;19948975;20032510;20049410;20112363;20176734;20186265;20190752;20231195;20233754;20304918;20353580;20392859;20430393;20439292;20444755;20448643;20453841;20453842;20483768;20501938;20511617;20533286;20585109;20617138;20622874;20628086;20628624;20669229;20800603;20804738;20822710;20849588;20852893;20921970;20936779;20953190;20962850;21048031;21095585;21111841;21127049;21139048;2118515;21208380;21220427;21266526;21326317;21336280;21406721;21437236;21531730;21566404;21604024;21625233;21740805;21763284;21787353;21795344;21885437;21890473;21906983;21963094;21964925;21968712;21988832;22019834;22031828;22087647;22093807;22099304;22127930;22207688;22285182;22397314;22402800;22461193;22488580;22505724;22507528;22525270;22585859;22586175;22623711;22634524;22733818;22843550;22898832;22924496;22925894;22936803;22939624;23000965;23002441;23018911;23032186;23032187;23039325;23054742;23105109;23114873;23128233;23148088;23161053;23164641;23247143;23249958;23273568;23327292;23418597;23425151;23463012;23471665;23555688;23609450;23635951;23671587;23740937;23827681;23901138;24008839;24023622;24028082;24039598;24055365;2406243;24097066;24099634;24159176;24219294;24357803;24390342;24449572;24489017;24491438;24500711;24713261;24852325;24884566;24953694;25015289;8663499;8692885;8702721;8797804;9299557;9882303;9928991 7128 P21580;Q5VXQ8;Q5VXQ9;Q5VXR0 ABBA01025818;AK312862;AL157444;AL357060;AMYH02014571;AY248754;AY820830;BC041790;BC064689;BC098379;BC113871;BC114480;BQ002744;CB528739;CH471051;DB143089;FJ434402;FJ434405;FJ434406;FJ434407;FJ434408;FJ434409;FJ434410;FJ434411;FJ434412;FJ434413;FJ434414;FJ434415;FJ434417;FJ434418;FJ434419;FR775799;HY009939;HY085289;M59465;NG_032761;NM_001270507;NM_001270508;NM_006290;XM_005267119;XM_006715555 AAA51550;AAI13872;AAI14481;AAO61093;AAV71149;ACN87230;ACN87231;ACN87232;ACN87233;ACN87234;ACN87235;ACN87236;ACN87237;ACN87238;ACN87239;ACN87240;ACN87241;ACN87242;ACN87243;ACN87244;BAG35714;CAB75664;CBY94061;EAW47923;EAW47924;EAW47925;EAW47926;NP_001257436;NP_001257437;NP_006281;P21580;XP_005267176;XP_006715618 Hs.211600 1653900;1668722;1754155;1792028;1792030;1792494;1794730;1794732;1794734;1796964;2143031;2156202;2157564;2164892 D6S1833;D6S1858;D6S2077;G10608;PMC135646P1;PMC135646P2;PMC152246P3;PMC355833P1;PMC355833P2;PMC355833P3;SHGC-132182;STS-M59465;STS-R70479;TNFAIP3_431 A20;MGC104522;MGC138687;MGC138688;OTUD7C;TNFA1P2 OTTHUMP00000017289;OTU domain-containing protein 7C;TNF alpha-induced protein 3;TNFAIP3 (A20);putative DNA-binding protein A20;tumor necrosis factor alpha-induced protein 3;tumor necrosis factor inducible protein A20;zinc finger protein A20 APPROVED protein-coding ENSG00000118503 HGNC:11896 01857 191163 REVIEWED 1603272 TNFAIP8L1 tumor necrosis factor, alpha-induced protein 8-like 1 INVOLVED IN negative regulation of TOR signaling (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH 3,4-dichloroaniline; benzo[a]pyrene diol epoxide I; copper atom 19 19 19 p13.3 4576202 4592255 + 4639527 4655580 + 4639515 4655568 + 6480464 12477932;14702039;16189514;21600655;21832049;22952844;23000965;24372178;24444419 126282 Q8WVP5 ABBA01056052;AC005339;AC011498;AK024161;AK097251;AMYH02035297;AMYH02035298;BC017672;BC044250;BX282702;CH471139;CS185650;NM_001167942;NM_152362;XM_005259487 AAH17672;CAJ42831;EAW69204;EAW69205;NP_001161414;NP_689575;Q8WVP5;XP_005259544 Hs.465643 1656136;1771069;2126847;5014003;5014039;5015404;5015619;5015861;5015869;5016478;5017170;5020946;5021872;5022578;5022651;5024761;5037552;5092626;5109573;7185938 A005C06;D10S16;D11S2921;D11S3114;D17S1136;D19S693E;D1S1423;D22S1584;D8S2279;G32222;GDB:313261;GDB:434012;L17705;L17971;L29953;RH16448;RH36905;RH69233;sY3084 FLJ39932;MGC17791;TIPE1 TNF alpha-induced protein 8-like protein 1;TNFAIP8-like protein 1;tumor necrosis factor alpha-induced protein 8-like protein 1;tumor necrosis factor, alpha-induced protein 8-like protein 1 protein-coding ENSG00000185361 HGNC:28279 11314 615869 VALIDATED 1606238 TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2 INVOLVED IN innate immune response (inferred); negative regulation of inflammatory response (inferred); negative regulation of T cell activation (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); chloroprene (ortholog); choline (ortholog) 1 1 1 q21.3 124244396 124247516 + 151129095 151132731 + 151156629 151159749 + 6480464 12477932;20663561;21459448;21466895;22326055;23009108;24107080;24274578;24816145;8125298 79626 Q6P589 ABBA01049379;AF271774;AF548003;AK027120;AK225472;AL592424;AL833373;AMYH02001873;BC012013;BC063014;BI833715;CH471121;CR457375;CS000936;JA885114;NM_024575 AAG44785;AAH63014;AAQ12262;BAB15664;CAG33656;CAI46145;CAI48009;CCQ77682;EAW53468;NP_078851;Q6P589 Hs.432360;Hs.744751 1687083;1718275;5037552 D8S2279;RH122909;RH79577 FLJ23467;TIPE2 OTTHUMP00000014152;TNF alpha-induced protein 8-like protein 2;TNFAIP8-like protein 2;inflammation factor 20;inflammation factor protein 20;tumor necrosis factor alpha-induced protein 8-like protein 2;tumor necrosis factor, alpha-induced protein 8-like protein 2 protein-coding ENSG00000163154 HGNC:26277 08029 612112 VALIDATED 1604925 TNFAIP8L3 tumor necrosis factor, alpha-induced protein 8-like 3 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cadmium dichloride 15 15 15 q21.2 28242207 28290874 - 51348798 51397473 - 51056601 51105276 - 6480464;8554872 12477932;20125193 388121 Q5GJ75 ABBA01039087;ABBA01039088;ABBA01039089;AC073964;AK123281;AMYH02030427;AMYH02030428;AY517501;BC127701;BC127702;CH471082;NM_207381;XM_005254367;XM_006720500 AAI27702;AAI27703;AAS76642;BAC85572;EAW77412;NP_997264;Q5GJ75;XP_005254424;XP_006720563 Hs.306343 1710254;5014435 G38326;SHGC-85220 FLJ41287 TNF alpha-induced protein 8-like protein 3;TNFAIP8-like protein 3;tumor necrosis factor alpha-induced protein 8-like protein 3;tumor necrosis factor, alpha-induced protein 8-like protein 3 protein-coding ENSG00000183578 HGNC:20620 13452 PROVISIONAL 1350284 TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008] 8 8 8 p22-p21 21922846 21937471 + 22960327 22974950 + 23102814 23117437 + 1580863;6480464;6484113;6907045 10435597;11001921;11024459;11396170;11417478;11420819;11442750;11451151;11464279;11753607;11844843;11848467;11859410;12136286;12390973;12417331;12477932;12488957;12808117;12975309;14623878;14999791;15207703;15301860;15340161;15489334;15538968;15916713;15921376;15990565;16046522;16169070;16174727;16980609;17522430;17690453;18345033;18460741;18511705;18590575;19035483;19573080;19661294;19773279;19936781;20237496;20451496;20568250;20799941;21281967;21483669;22555108;23320456;23584885;23602568;24211571;9242610;9242611;9314565;9325248;9373179;9551946;9613612 8794 E5RJI1;E9PBT0;O14798 ABBA01005536;AC107959;AF012536;AF012629;AF014794;AF016267;AF020502;AF033854;AF524869;AK298664;AK298718;AK313213;AMYH02017601;AY358281;BC017852;BC125041;BC125042;BG545631;CH471080;CR541857;DC380668;GM840261;HB475040;NG_032578;NM_003841 AAB67104;AAB67110;AAB71413;AAB81181;AAB87506;AAC05593;AAH17852;AAI25042;AAI25043;AAM82564;AAQ88648;BAG36028;BAG60832;BAH12853;CAG46655;CAT16333;CBA12840;EAW63638;NP_003832;O14798 Hs.655801 2185696 WI-11701 CD263;DCR1;DCR1-TNFR;LIT;MGC149501;MGC149502;TRAIL-R3;TRAILR3;TRID OTTHUMP00000123527;TNF related TRAIL receptor;TNF related apoptosis-inducing ligand receptor 3;TNF-related apoptosis-inducing ligand receptor 3;TRAIL receptor 3;TRAIL receptor without an intracellular domain;antagonist decoy receptor for TRAIL/Apo-2L;cytotoxic TRAIL receptor-3;decoy TRAIL receptor without death domain;decoy receptor 1;decoy without an intracellular domain;lymphocyte inhibitor of TRAIL;tumor necrosis factor receptor superfamily member 10C APPROVED protein-coding ENSG00000173535 HGNC:11906 04681 603613 REVIEWED 1317580 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008] 8 8 8 p21 22011569 22045255 - 23048970 23082680 - 23191457 23225167 - 1580863;4143170;4143171;6480464;6484113;6907045;8554872 17403612;19961901 10400625;10549288;10594023;10862756;10894160;11376335;11464292;11844843;11862476;12082627;12218097;12239152;12388693;12421985;12477932;12488957;12649168;12808117;12839575;12920112;12927928;14506242;14534720;14576771;15007095;15146197;15208670;15280356;15301860;15334061;15356269;15388581;15452120;15480430;15489334;15538968;15608691;15655781;15757891;15861184;15863153;15921376;15949439;15972852;15975957;15990565;16012731;16046522;16051735;16174727;16217763;16226105;16319225;16344560;16529749;16544055;16778114;16847314;17035413;17047155;17070520;17075118;17081983;17160022;17666396;17881904;17907802;17983809;18163425;18165900;18203008;18305945;18421578;18511705;18556450;18590575;18633131;18676680;18789900;18981952;19050264;19070628;19074831;19074885;19148581;19170196;19203830;19212626;19305384;19343040;19349211;19350268;19379558;19424623;19427028;19434100;19453261;19505916;19573080;19593445;19625176;19637313;19639179;19643115;19643596;19692168;19773279;19789190;19913121;19932172;20154087;20237496;20354842;20363213;20421368;20430723;20453000;20484047;20556591;20568250;20628086;20638129;20666744;20673328;20677014;20714870;20732625;20800603;20802294;20875141;20889918;21195543;21272366;21279373;21367858;21484799;21519792;21685476;21700414;21769428;21785270;21906983;21909106;21953056;21963094;21994560;22158615;22183068;22240897;22246181;22258765;22392486;22401174;22447040;22665066;22695614;22824792;22948392;23050498;23142077;23284732;23300075;23306613;23322903;23423784;23455636;23460812;23498957;23584885;23661154;23686163;23806100;23815209;23857473;23959437;24078627;24085293;24136227;24235014;24379239;24492941;24764293;7650480;9082980;9311998;9325248;9373179;9382840;9430227;9430228;9811967 8797 E5RFH1;O00220 ABBA01005539;AC100861;AK291299;AMYH02017605;AMYH02017606;BC012866;BT006906;CH471080;CN423254;DB101031;EF064713;FJ795027;JA362578;JF729355;NG_032107;NM_003844;U90875 AAC51226;AAH12866;AAP35552;ABK41896;ABM82717;ABM85899;ACO37639;AEB77762;BAF83988;CCA94571;EAW63636;NP_003835;O00220 Hs.213467;Hs.591834 1798284;2162927 RH67885;TNFRSF10A_2005 APO2;CD261;DR4;MGC9365;TRAILR-1;TRAILR1 OTTHUMP00000123526;TNF-related apoptosis inducing ligand receptor 1;TNF-related apoptosis-inducing ligand receptor 1;TRAIL receptor 1;TRAIL-R1;cytotoxic TRAIL receptor;death receptor 4;tumor necrosis factor receptor superfamily member 10A;tumor necrosis factor receptor superfamily member 10a variant 2 APPROVED protein-coding HGNC:11904 04679 603611 REVIEWED 1346827 TNFRSF10D tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic death domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced cell apoptosis. [provided by RefSeq, Jul 2008] 8 8 8 p21 21955621 21984098 - 22993101 23021543 - 23135588 23164030 - 1580863;6480464;6484113;6907045;8554872 10229846;10754286;11420819;11844843;11956107;12390973;12421985;12477932;12488957;12808117;12915532;12975309;14999791;15301860;15340161;15489334;15538968;15916713;15919363;15921376;15990565;16046522;16174727;16319225;16799475;16934748;16980609;17207965;17353931;17522430;17545522;18460741;18980997;18981952;19573080;19730199;19773279;19913121;19948942;20018172;20237496;20568250;20628086;20732625;20799941;20819778;20875141;21483669;21890473;22028813;22053931;23333304;23584885;24211571;9382840;9430226;9537512 8793 Q9UBN6 AA743393;ABBA01005536;ABBA01005537;ABBA01005538;AC100861;AC107959;AF021232;AF021233;AF023849;AF029761;AK313528;AMYH02017602;AY358285;BC052270;BU199149;CD703247;CH471080;GM841195;NG_032579;NM_003840 AAC32765;AAC32766;AAC52053;AAD03477;AAH52270;AAQ88652;ADQ32874;BAG36307;CAT16465;EAW63637;NP_003831;Q9UBN6 Hs.213467 1650182;2162319;5093870 A009Y11;D8S2127;G32973 CD264;DCR2;TRAIL-R4;TRAILR4;TRUNDD OTTHUMP00000123528;TNF receptor-related receptor for TRAIL;TNF-related apoptosis-inducing ligand receptor 4;TRAIL receptor 4;TRAIL receptor with a truncated death domain;decoy receptor 2;decoy with truncated death domain;tumor necrosis factor receptor superfamily member 10D APPROVED protein-coding ENSG00000173530 HGNC:11907 04682 603614 REVIEWED 1343569 TNFRSF12A tumor necrosis factor receptor superfamily, member 12A INVOLVED IN positive regulation of apoptotic process; positive regulation of extrinsic apoptotic signaling pathway; regulation of wound healing; FOUND IN cell surface (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 16 16 16 p13.3 3275870 3277940 + 3070313 3072384 + 3020312 3022383 + 1580863;6480464 10551889;10751351;11728344;12445828;12477932;12496418;12529173;12651623;14573547;15140220;15353286;15489334;15611130;16341674;16503147;16526941;16809572;17018610;17124496;17383968;17594693;18505918;19018248;19241374;19349318;19573080;19773279;19828625;19895311;19963275;20004376;20189297;20237496;20487651;20557950;20568250;20610643;20628624;20810696;20844036;20927042;21153335;21303425;21435232;21483105;21525013;21708117;21828059;21963094;21982860;21993017;22055894;22081603;22521346;22634180;22637703;22672874;22767506;22896023;23107828;23288170;23300011;23320797;23438059;23443741;23469193;23722548;23750247;23775076;23886137;23999007;24056367;24122208;24337061;24408972;24652288 51330 I3L0S4;I3L1J9;I3L3P4;I3L539;Q9NP84 AB035480;AB035481;ABBA01026726;AC108134;AF191148;AMYH02031280;BC002718;BC020538;BC064377;BM842283;CH471112;CS016820;CS417927;JA065408;JA065415;NM_016639 AAF69108;AAH02718;ABM83894;ABM87215;BAA94792;BAB17850;CAI54172;CAL48784;CCA61735;CCA61738;EAW85428;EAW85429;EAW85430;NP_057723;Q9NP84 Hs.355899 2117908;2129131 RH41886;STS-T56712 CD266;FN14 FGF-inducible 14;OTTHUMP00000159250;TWEAKR;fibroblast growth factor-inducible immediate-early response protein 14;tumor necrosis factor receptor superfamily member 12A;tweak-receptor;type I transmembrane protein Fn14 protein-coding ENSG00000006327 HGNC:18152 05801 605914 VALIDATED 1343839 TNFRSF12L tumor necrosis factor receptor superfamily, member 12-like 9615223 8791 HGNC:11911 1354073 TNFRSF13C tumor necrosis factor receptor superfamily, member 13C B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008] 22 22 22 q13.1-q13.31 26127271 26129056 - 42321036 42322821 - 41925032 41926817 - 1580863;6480464;6907045;7240710;8699517;8554872 10359578;11076863;11509692;11591325;11747837;11869903;12374279;12456020;12471121;12477932;12715002;12721620;12755599;14512299;15485634;15585864;15644327;16160919;16226112;16320342;16769579;16840730;16914324;16919470;16931038;16931039;17119117;17154264;17963166;18025170;18051214;18775026;19074885;19207947;19573080;19666484;19698991;19726767;19731825;19773279;20025535;20230666;20237496;20301476;20460528;20554963;20568250;20945608;20974656;21041452;21099364;21123970;21483105;21515993;21607696;21687682;21744373;21871426;22028296;22124120;22699762;23272079;23276925;23493554 115650 Q5H8V1;Q96RJ3 AB222990;ABBA01055656;AF373846;AMYH02038449;AX772914;AX800072;BC105123;BC112030;CH471095;EF064710;HA635640;HC049947;HC069087;HC083955;HC086503;HH836170;NG_007579;NM_052945;Z99716 AAI05124;AAI11586;AAI12031;AAK91826;ABK41893;BAE16554;CAE06271;CAE51828;CAZ39524;CBH32711;CBH51798;CBI12201;CBI67648;CBX33268;EAW60473;NP_443177;Q96RJ3 Hs.344088 5492405 UniSTS:480937 BAFF-R;BAFFR;CD268;CVID4;MGC138235 B cell-activating factor receptor;B-cell-activating factor receptor;BAFF receptor;BLyS receptor 3;BROMIX;OTTHUMP00000199650;prolixin;tumor necrosis factor receptor superfamily member 13C APPROVED protein-coding ENSG00000159958 HGNC:17755 05883 606269;613494 REVIEWED 1344563 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 17781944 17814965 - 16842398 16875432 - 16939084 16972088 - 1580863;6480464;6484113;6907045;7240710;8554872;8699517 10801128;10880535;10881172;10898980;10920230;10956646;10973284;12471121;12477932;14512299;14702039;15542592;15827134;16007086;16007087;16618819;16914324;16919470;16931039;16960154;17119122;17154264;17171762;17392797;17392798;17464555;17492055;17539903;17550853;17917015;17983875;18025170;18046446;18051214;18978466;18981294;19028483;19056482;19074885;19207947;19210517;19291294;19321861;19392801;19456850;19494827;19573080;19605846;19629655;19741596;19773279;19775471;20006554;20139978;20156508;20184394;20301476;20568250;20676093;20889194;20974656;21419480;21441570;21514638;21547394;21687682;21741080;21850030;22076597;22558069;22627058;22673310;22697072;22884984;22983507;23022100;23225259;23237420;23303382;23336587;23418049;23493554;23620746;23932459;23955597;23956760;24051380;24376672;8125298;9311921 23495 E7ER05;J3QR67;O14836;Q4ACX1 AB222991;ABBA01009769;AC104024;AF023614;AK097261;AK223453;AK301032;AK313302;AL353996;AMYH02033084;AX766384;AX772740;AX928248;AY302137;BC109392;CH471196;CS281874;CS281878;CS281934;CS281938;CS468488;EF064711;HA635638;HC049945;HC069029;HC083953;HC086501;HH836168;HI923611;HI923615;NG_007281;NM_012452 AAC51790;AAI09393;AAP57629;ABK41894;BAD97173;BAE16555;BAG36107;BAH13394;CAE00326;CAE06248;CAF03579;CAJ90562;CAJ90567;CAJ90607;CAJ90609;CAM32377;CAZ39523;CBH32710;CBH51785;CBI12200;CBI67647;CBX33267;CBY65601;CBY65603;EAW55728;EAW55729;NP_036584;O14836 Hs.158341 CD267;CVID;CVID2;FLJ39942;MGC133214;MGC39952;RYZN;TACI;TNFRSF14B OTTHUMP00000065442;transmembrane activator and CAML interactor;tumor necrosis factor receptor 13B;tumor necrosis factor receptor superfamily member 13B APPROVED protein-coding ENSG00000240505 HGNC:18153 05365 240500;604907;609529 REVIEWED 730969 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 8 8 8 q24 116124073 116152621 - 119935796 119964383 - 118923557 118952144 - 730033;1624125;1624167;1620974;1624171;1625347;1620794;1620889;1624168;1624176;1620776;1620893;1580863;2302324;6480464;7240710;7205513;7205512;7205514;7205487;7205491;7205485;7205483;7205492;7205494;7205488;7205479;7205481;7205493;7205482;7205516;8554872;8699517 12189164;15117849;15334463;15569000;15648548;15883214;15926884;15936463;16115489;16696922;17258300;18592139;18719882;19895657;20211333;20727867;20861651;21479768;21659498;21691937;21793936;22050177;22156488;22386825;22943310;22989431;23167338;9108485 10706119;11035950;11139569;11451955;11505389;11912131;12052453;12054556;12054560;12054622;12056809;12067713;12073153;12096838;12110935;12124406;12150965;12153751;12177271;12181640;12210731;12213849;12213850;12221720;12351414;12364326;12364420;12398237;12412803;12469211;12477932;12564836;12584041;12619938;12662434;12824864;12857926;12923331;14504888;14508625;14529897;14672344;14680982;14734048;14999524;15059506;15064358;15124262;15155868;15223723;15242994;15290725;15292302;15292354;15301860;15307108;15308561;15312251;15313187;15340161;15386310;15489334;15504545;15516325;15521102;15538968;15564564;15615493;15630493;15638385;15647836;15700136;15721297;15757850;15782282;15794927;15799029;15978970;16123486;16133687;16143421;16151677;16152630;16215261;16240334;16249885;16287088;16288714;16341674;16343827;16344560;16453284;16491292;16512757;16512834;16533764;16583245;16601843;16611736;16620835;16678184;16687626;16712673;16804084;16831934;16949901;16953816;16980077;16999948;17111200;17147692;17148684;17189957;17288531;17328075;17354199;17388729;17403189;17443309;17448630;17470718;17471510;17558893;17570371;17598007;17606458;17631639;17634140;17667143;17702740;17703334;17706953;17711477;17712025;17723135;17804683;17852826;17876645;17878722;17895323;17923273;17966895;17970704;17993768;18000166;18040268;18061491;18081868;18083042;18156213;18172654;18174230;18178454;18190241;18208894;18251702;18252198;18253488;18271681;18298349;18299469;18305214;18311801;18319311;18319315;18328262;18338379;18348083;18362509;18367263;18398265;18399769;18445777;18455228;18490014;18565244;18565252;18579554;18589796;18624938;18634923;18668542;18676739;18683730;18684318;18697793;18722030;18727653;18789716;18802807;18814141;18821330;18925325;18928898;18929691;18931513;18938269;18945829;19014892;19053023;19058836;19062016;19073256;19105036;19114622;19128145;19131500;19134349;19151114;19158438;19206164;19229472;19299182;19325145;19346738;19351609;19352306;19379170;19380455;19401376;19420105;19436932;19438902;19449178;19453261;19502537;19508593;19523465;19539794;19548455;19554506;19565568;19604388;19633200;19642016;19643942;19661483;19662974;19671825;19671856;19676147;19705167;19730683;19775319;19779468;19784545;19787288;19801982;19896533;19900367;19907187;19913121;19922962;19934266;20004120;20005786;20028464;20033478;20063037;20084381;20110921;20137703;20146170;20157786;20204532;20205168;20205614;20224558;20231205;20237496;20333869;20339356;20416172;20448212;20534768;20548944;20554715;20569643;20621297;20623670;20628086;20690034;20718662;20809534;20819596;20832449;20890036;20929997;20932948;20942739;20960157;20961463;20970873;20974615;20974706;21074311;21094794;21216833;21251686;21255246;21259010;21270110;21316442;21327451;21352301;21359671;21376149;21411255;21447702;21474331;21539822;21559440;21568931;21643971;21660951;21678294;21678453;21679949;21734015;21738662;21823052;21868322;21903966;21913967;21938481;21940840;21941412;21964949;21975354;21980299;21994215;22001124;22001292;22015178;22023625;22025323;22027240;22034880;22079264;22079369;22119834;22120987;22172725;22176920;22178057;22185226;22202560;22207352;22214279;22265272;22268274;22278426;22295097;22296645;22377704;22391059;22392486;22402034;22434650;22455689;22486966;22490874;22496403;22504420;22516062;22546829;22556124;22567137;22584471;22634178;22638612;22664871;22698523;22705116;22753650;22798246;22824048;22863720;22909822;22918704;22952959;22957004;22964478;22965192;23018352;23030274;23070830;23176170;23178378;23183242;23190522;23211475;23219833;23267146;23271131;23277172;23302066;23304691;23322328;23331792;23335067;23336103;23358109;23369128;23383690;23386104;23388484;23437003;23440406;23457386;23490134;23516466;23531404;23547804;23549459;23619553;23695991;23726804;23731710;23758931;23777975;23788300;23812001;23827649;23837846;23867796;23877020;23959668;24058411;24067544;24126801;24130145;24228244;24249740;24277958;24280212;24283361;24307842;24457406;24710939;24755218;24780728;25095658;8125298;9168977;9434163;9478964;9492069;9520411;9571159;9573043;9603945;9688283;9950424 4982 E5RFV7;O00300 AB002146;AB008822;ABBA01037810;AC107953;AF134187;AK223155;AK308524;AK313710;AMYH02018673;AP004283;AY466112;BC011023;BC030155;BM748946;BQ000897;CH471060;CK903484;DA477521;NG_012202;NM_002546;U94332 AAB53709;AAF20168;AAH30155;AAR23265;ABM83190;ABM86392;BAA25910;BAA32076;BAD96875;BAG36455;EAW91978;NP_002537;O00300 Hs.81791 1682573;1792556;1796968 PMC153764P1;RH93303;TNFRSF11B_1301 MGC29565;OCIF;OPG;TR1 OTTHUMP00000228056;osteoclastogenesis inhibitory factor;osteoprotegerin;tumor necrosis factor receptor superfamily member 11B APPROVED protein-coding ENSG00000164761 HGNC:11909 04032 239000;602643 REVIEWED 1320832 TNFRSF14 tumor necrosis factor receptor superfamily, member 14 This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 p36.32 90732 98195 - 2487291 2495268 + 2556366 2563829 + 1580863;2317281;2317295;6480464 11742877;18353719 10318773;10706119;11035077;11279055;11390428;11463856;11511370;11742858;11756979;11976496;12093804;12466117;12477932;12915568;12975309;14749527;15110526;15301860;15340161;15489334;15568026;15647361;15767456;15917993;16131544;16169070;16169851;16797773;16932752;17010447;17192395;17353931;17405920;17474147;17947707;18029348;18193050;18502984;18519647;18671825;18794853;18987746;19023130;19110536;19332782;19342625;19473566;19573080;19680232;19701890;19762537;19773279;19915044;20066438;20187130;20190752;20233754;20237496;20439292;20453842;20568250;20884631;20962851;21297633;21533159;21832049;21900206;21920726;21941365;21959263;21982860;22017438;22113134;22145905;22179929;22239829;22459947;22634623;22801499;23128233;23333304;23375291;23445872;23470321;23761635;23976978;24249528;24314649;24449572;8898196;9153189;9162022;9162061;9462508;9696799;9774688 8764 B9A034;F6Q0M4;F6UPZ7;Q92956 AB208808;ABBA01016102;AF153978;AF373877;AF373878;AK124010;AK130172;AK300515;AK303468;AK310076;AL139246;AMYH02000125;AY358879;AY466111;BC002794;BC018882;BC029848;BM981793;BX343044;CD366981;CH471183;CR456909;DC383433;NM_001297605;NM_003820;U70321;U81232;XM_006711018;XM_006711019;XM_006711020;XM_006724946;XM_006724947;XM_006724948;XR_426638;XR_430632 AAB58354;AAD00505;AAF75588;AAH02794;AAH29848;AAL47717;AAL47718;AAQ89238;AAR23264;ABM83926;ABM87754;BAC85297;BAD92045;BAG53992;BAG62227;BAG64508;CAG33190;EAW56089;EAW56090;EAW56091;EAW56092;EAW56093;EAW56094;NP_001284534;NP_003811;Q92956;XP_006711081;XP_006711082;XP_006711083;XP_006725009;XP_006725010;XP_006725011 Hs.512898;Hs.682060 1652796;1734704;1850322;2117753 D1S1782E;RH79192;SHGC-74065;STS-U70321 ATAR;CD270;HVEA;HVEM;LIGHTR;TR2 CD40-like protein;OTTHUMP00000000866;OTTHUMP00000204095;OTTHUMP00000204096;OTTHUMP00000204097;OTTHUMP00000204099;herpes virus entry mediator A;herpesvirus entry mediator A;tumor necrosis factor receptor superfamily member 14;tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator);tumor necrosis factor receptor-like 2;tumor necrosis factor receptor-like gene2 APPROVED protein-coding ENSG00000157873 HGNC:11912 04122 602746 REVIEWED 1312303 TNFRSF17 tumor necrosis factor receptor superfamily, member 17 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008] 16 16 16 p13.1 12233004 12235957 + 12058964 12061925 + 11965107 11968068 + 1580863;2317311;2317306;6480464 11104810;15692072 10493829;10801128;10903733;10908663;10973284;11528522;12477932;12721620;1396583;14512299;15301860;15542592;15846369;16919470;16931039;16960154;17825416;17968879;18025170;19305408;19641626;19741596;19773279;20016944;20568250;20676093;21250838;21483105;21687682;21906983;22108903;22166983;22804669;23071284;23088438;23237506;23344265;23728352;23776238;24376672;8165126;8527407 608 H3BMB5;Q02223 AB052772;ABBA01006839;AC007216;AMYH02031491;AY509112;AY684975;BC058291;CH471112;CS281880;CS281940;EF152353;EF152354;EF152355;EF152356;NM_001192;U95742;Z14954;Z29574;Z29575 AAB67251;AAH58291;AAR84240;AAV92616;ABN42508;ABN42509;ABN42510;ABN42511;BAB60895;CAA78679;CAA82690;CAA82691;CAJ90608;CAJ90610;EAW85129;NP_001183;Q02223 Hs.2556 1768892;2121912 D16S3207;RH70979 BCM;BCMA;CD269;TNFRSF13A B cell maturation antigen;B-cell maturation factor;B-cell maturation protein;OTTHUMP00000160261;tumor necrosis factor receptor superfamily member 17 APPROVED protein-coding ENSG00000048462 HGNC:11913 00144 109545 REVIEWED 1604651 TNFRSF18 tumor necrosis factor receptor superfamily, member 18 This gene encodes a member of the TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Feb 2011] 1 1 1 p36.3 1441567 1444768 + 1138888 1142163 - 1203508 1206709 - 6480464 10037686;10074428;10836847;11812990;11869690;12070049;12477932;12975309;15301860;15340161;15944293;16955181;17360848;17538882;18230609;18723571;18924213;18987746;19155305;19423540;19547759;19573080;20237496;20331378;20406964;20438785;21445534;21557210;21592113;21670968;21694467;21705620;22028176;22064350;22309286;22516990;22889411;22911397;23128233;23432692;23785514;23929911;23935647;9177197 8784 J3KT02;Q9Y5U5 ABBA01016022;AF117297;AF125304;AF241229;AL162741;AMYH02000083;AY358877;BC152381;BC152386;BE244247;BT019531;BT019532;CH471183;NM_004195;NM_148901;NM_148902 AAD19694;AAD22635;AAF63506;AAI52382;AAI52387;AAI56103;AAI56965;AAQ89236;AAV38338;AAV38339;EAW56282;EAW56283;EAW56284;NP_004186;NP_683699;NP_683700;Q9Y5U5 Hs.212680 AITR;CD357;GITR;GITR-D OTTHUMP00000001519;OTTHUMP00000001520;OTTHUMP00000001521;TNF receptor superfamily activation-inducible protein;activation-inducible TNFR family receptor;glucocorticoid-induced TNFR-related protein;tumor necrosis factor receptor superfamily member 18 APPROVED protein-coding ENSG00000186891 HGNC:11914 04879 603905 REVIEWED 1321639 TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012] 18 18 18 q22.1 56711789 56772745 + 59992520 60054943 + 62325287 62387710 + 1599463;1625350;1580863;2291908;2302321;2302324;2302363;2302322;2302361;6480464;6907045;7240710;8554872;8699517 10615125;16752412;17002564;18248671;18317887;18417124;18592139 10025951;10075662;10097072;10500098;10635328;10677500;11118297;11406619;11675352;11762937;11771666;11809792;11918537;12043011;12200385;12296995;12362049;12393586;12568416;12709501;12929927;12933809;15248232;15301860;15377473;15564564;15615497;15750601;16052586;16083856;16151677;16184196;16215261;16240334;16249885;16270354;16328004;16344560;16556708;16583245;16953816;16960694;17115234;17288531;17331078;17447113;17546619;17580719;17634140;17876645;17895323;17966895;17982618;18008334;18061491;18174230;18311801;18367263;18445777;18606301;18632421;18802807;18928898;19008470;19074885;19079262;19085839;19213753;19416721;19453261;19507210;19554506;19578385;19641626;19672874;19705167;19728335;19801982;19890054;19896533;19913121;19940926;20205168;20231205;20237496;20436471;20506523;20531232;20534768;20554715;20564239;20623281;20628086;20694489;20839008;20857484;20974615;21050071;21159522;21270824;21326202;21352301;21472776;21479680;21514280;21541702;21559440;21623375;21643971;21742767;21814016;21814020;21814022;21814026;21964949;21987421;22001124;22001292;22023082;22176920;22178057;22214279;22266860;22271396;22402034;22496457;22504420;22531921;22546829;22705116;22753650;22787434;22824341;22848465;23022100;23116709;23241943;23267146;23478294;23516466;23531404;23553199;23572233;23664977;23697850;23744843;23766243;23821519;24200492;24340030;24726460;7911698;9345096;9367155;9626621;9685412;9718349;9774460;9852070;9878548 8792 Q9Y6Q6 AB209762;ABBA01056192;ABBA01056193;AC100843;AF018253;AF086403;AMYH02034866;AMYH02034867;CH471096;DA403964;GM980130;GM986870;HE647782;HE649916;HE649917;HE659518;HF584702;NG_008098;NM_001270949;NM_001270950;NM_001270951;NM_001278268;NM_003839;XM_005266777 AAB86809;AAI52907;BAD92999;CAX21650;CAX24318;CCF23032;CCF55033;CCF55034;CCF77738;CCQ44072;EAW63124;NP_001257878;NP_001257879;NP_001257880;NP_001265197;NP_003830;Q9Y6Q6;XP_005266834 Hs.204044;Hs.621477 1675796;1758243 RH93403;SHGC-147772 CD265;FEO;LOH18CR1;ODFR;OFE;OPTB7;OSTS;PDB2;RANK OTTHUMP00000163667;Paget disease of bone 2;TRANCER;loss of heterozygosity, 18, chromosomal region 1;osteoclast differentiation factor receptor;receptor activator of NF-KB;receptor activator of nuclear factor-kappa B;tumor necrosis factor receptor superfamily member 11A APPROVED protein-coding ENSG00000141655 HGNC:11908 04609 174810;602080;603499;612301 REVIEWED 1344271 TNFRSF19 tumor necrosis factor receptor superfamily, member 19 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 13 13 13 q12.11-q12.3 5207376 5312894 + 24144509 24250244 + 23570370 23676105 + 1580863;6480464;8554872 10764796;10809768;12060722;12477932;12975309;15301860;15340161;15489334;15694321;15694322;16344560;17187358;17239012;18029348;19641626;20237496;20512145;20881009;21127458;22057614;22493691;22589738;23142137;23699535;24129566;24623448;7829101 55504 Q9NS68 AB040434;ABBA01007880;ABBA01007881;AF086276;AF167555;AF246998;AF246999;AK292874;AK292891;AK304290;AL161422;AL354815;AMYH02027695;AX706990;AY358888;BC035796;BC047321;BF968836;BF971156;BG674480;BI494770;BM801444;CA437886;CH471075;DA192370;DB223760;NM_001204458;NM_001204459;NM_018647;NM_148957;XM_005266445;XM_005266446 AAF71828;AAH47321;AAK28395;AAK28396;AAQ89247;BAB03269;BAF85563;BAF85580;BAG65148;CAD88147;EAX08325;EAX08326;EAX08327;NP_001191387;NP_001191388;NP_061117;NP_683760;Q9NS68;XP_005266502;XP_005266503 Hs.149168;Hs.730848 1340549;1700676;1722213;1766693;1796970;2166300;7187829 D13S292;G60010;RH103961;RH46092;SHGC-149974;TNFRSF19_1365 TAJ;TAJ-alpha;TROY OTTHUMP00000018113;OTTHUMP00000018114;OTTHUMP00000018116;TRADE;toxicity and JNK inducer;tumor necrosis factor receptor superfamily member 19 APPROVED protein-coding ENSG00000127863 HGNC:11915 05838 606122 REVIEWED 1344744 TNFRSF22 tumor necrosis factor receptor superfamily, member 22 94098 AY046551 HGNC:13470 1346665 TNFRSF10B tumor necrosis factor receptor superfamily, member 10b The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracellular death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. Two transcript variants encoding different isoforms and one non-coding transcript have been found for this gene. [provided by RefSeq, Mar 2009] 8 8 8 p22-p21 21840001 21889050 - 22877646 22926700 - 23020133 23069187 - 1580863;2290494;2290500;2290492;2290495;2290498;2290493;2298524;2290496;2290491;2290497;4143170;4142856;4143171;6480464;6484113;6907045;7240710;8699517;8554872 10693703;14872496;16033835;16271751;16865223;17011986;17184908;17303227;17403612;17671220;18019056;19934367;19961901 10072170;10542098;10549288;10862756;10894160;11094155;11193041;11464292;11696376;11844843;11862476;11940602;12175536;12196516;12218097;12388624;12388693;12421985;12477932;12488957;12642868;12761501;12805378;12808117;12847280;12915532;12920112;12975309;14506242;14534720;14561739;14576771;14644197;14688276;14691451;14759258;15044455;15110168;15173180;15208670;15301860;15322075;15334061;15356269;15388581;15452120;15480430;15485835;15489334;15502938;15507617;15520016;15538968;15607964;15608691;15655781;15659383;15685228;15688023;15757891;15828026;15921376;15990565;16003390;16007131;16046522;16051735;16174727;16226105;16319225;16344560;16463784;16529749;16541419;16544055;16571651;16632604;16729023;16731632;16778114;16980044;16980609;17027647;17070520;17273769;17548900;17627287;17666396;17689858;17690453;17881637;17922852;17968315;17983809;18022315;18079962;18165900;18190241;18203008;18219321;18220834;18314443;18341587;18424742;18511705;18519235;18534188;18593935;18599488;18625509;18829683;18840411;19037087;19050264;19074831;19074885;19212626;19219602;19230044;19243385;19305384;19343040;19376776;19379558;19412666;19424623;19427028;19432816;19434100;19519609;19573080;19584075;19593445;19637313;19643115;19661294;19674787;19730199;19773279;19808964;19854829;19890662;19913121;19932172;19939880;20007968;20087343;20106985;20123409;20154087;20156289;20157774;20237496;20339295;20354842;20398055;20410100;20422457;20430723;20450916;20568250;20628086;20634891;20666744;20673328;20714870;20714918;20800603;20802294;20808443;20839416;20875141;21044953;21059290;21139048;21152876;21152878;21167276;21172010;21272366;21279373;21519792;21538027;21697087;21769428;21785270;21801305;21803611;21805040;21822306;21890473;21994560;22020938;22053931;22065586;22072062;22110611;22158615;22183068;22392486;22412938;22419388;22447040;22496450;22537456;22585859;22665066;22695614;22789540;22791814;22824792;22842544;22895172;22948392;23000965;23053497;23065795;23091198;23142077;23247197;23254287;23284732;23292651;23306613;23322903;23423784;23428290;23460812;23498957;23579274;23584885;23608376;23615398;23686163;23724937;23806100;23839018;23857473;23908588;24002210;24078627;24085293;24120475;24190693;24213373;24270523;24387758;24662747;24994655;8777713;9242610;9242611;9285725;9311998;9325248;9326928;9373179;9382840;9430227;9430228;9721851 8795 B7Z588;E9PBT3;O14763;Q7Z2I8 AB014718;AB054004;AB451272;AB451399;ABBA01005533;ABBA01005534;ABBA01005535;AC107959;AF012535;AF012628;AF016266;AF016268;AF016849;AF018657;AF018658;AF020501;AF022386;AF153687;AF192548;AK291216;AK296128;AK298602;AL529460;AMYH02017599;AMYH02017600;AY358277;BC001281;BX537617;BX538104;BX538179;CH471080;CR541898;CX870630;DA738472;DA889488;FJ200482;JA362580;NG_012145;NM_003842;NM_147187;NR_027140;XM_006716409 AAB67103;AAB67109;AAB70577;AAB70578;AAB71412;AAB71949;AAB81180;AAC01565;AAC51778;AAF07175;AAF75587;AAH01281;AAQ88644;ACO54879;BAA33723;BAB39708;BAF83905;BAG70086;BAG70213;BAH12263;BAH12824;CAD97801;CAD98017;CAD98053;CAG46696;CCA94572;EAW63640;EAW63641;EAW63642;EAW63643;NP_003833;NP_671716;O14763;XP_006716472 Hs.521456 1749591;1775586;1780230;2116357;2132536;5022322;5037552 D11S2560;D8S2055;D8S2279;SHGC-111279;SHGC-154651;SHGC-5817;WI-15306 CD262;DR5;KILLER/DR5;TRAIL-R2;TRAILR2;TRICK2;TRICK2A;TRICK2B;TRICKB;ZTNFR9 Fas-like protein;KILLER;OTTHUMP00000123492;OTTHUMP00000123493;TNF receptor superfamily member 10b;TNF-related apoptosis-inducing ligand receptor 2;apoptosis inducing protein TRICK2A/2B;apoptosis inducing receptor TRAIL-R2;cytotoxic TRAIL receptor-2;death domain containing receptor for TRAIL/Apo-2L;death receptor 5;p53-regulated DNA damage-inducible cell death receptor(killer);tumor necrosis factor receptor superfamily member 10B;tumor necrosis factor receptor-like protein ZTNFR9 APPROVED protein-coding ENSG00000120889 HGNC:11905 04680 275355;603612 REVIEWED 1354179 TNFRSF23 tumor necrosis factor receptor superfamily, member 23 94099 AY046550 HGNC:13471 1316426 TNFRSF21 tumor necrosis factor receptor superfamily, member 21 This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013] 6 6 6 p21.1 48751647 48830057 - 47199263 47277683 - 47231527 47309947 - 1580863;6480464;8554872 11485735;11714751;11753679;12477932;12975309;14574404;14702039;15301860;15489334;15623156;16378686;17962943;18029348;19165232;19225519;19322201;19654028;20237496;20819778;21337622;21501873;21900206;22297296;22525750;22567163;22761420;24374337;24806669;24806670;9714541 27242 B3KMB6;O75509 AB209394;ABBA01050611;AF068868;AF208860;AJ420531;AK001504;AK025399;AK315560;AL096801;AMYH02013691;AY358304;BC005192;BC010241;BC015466;BC017730;BC021572;BI561782;BT007420;CH471081;CR457190;DR761236;HI574196;HY007775;NM_014452 AAC34583;AAF64274;AAH10241;AAH17730;AAH21572;AAP36088;AAQ88671;ABM81695;ABM84856;BAD92631;BAG37936;BAG50928;CAG33471;CBX47587;EAX04314;EAX04315;EAX04316;EAX04317;EAX04318;NP_055267;O75509 Hs.443577 1644528;1694210;1694248;1719905;1745159;1752131;1756343;1796972;1855137;2119543;5017799 AFM280vg9;AL035169;AL035172;GDB:595836;RH11030;RH123646;RH78244;SHGC-106092;SHGC-143324;TNFRSF21;TNFRSF21_1271 BM-018;CD358;DR6;MGC31965 OTTHUMP00000016561;TNFR-related death receptor 6;death receptor 6;tumor necrosis factor receptor superfamily member 21 APPROVED protein-coding ENSG00000146072 HGNC:13469 05759 605732 REVIEWED 737374 TNFRSF4 tumor necrosis factor receptor superfamily, member 4 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008] 1 1 1 p36 1434142 1436950 + 1146706 1149703 - 1211326 1214168 - 730097;1580863;6480464 2828930 10626892;10861060;11346458;11470287;11479622;11567634;11929124;12134113;12296857;12477932;12478477;12624783;14644025;15301860;15470070;15489334;15592478;15638367;15778343;15808546;15941918;16232366;16329997;16380476;16456009;16710414;16750861;18174230;18327975;18374895;18397322;18398332;18501882;18645038;18660703;18723571;18798503;18843780;18941188;18976975;18987746;19029446;19253527;19538134;20139223;20306696;20331378;20376799;20400327;20485444;20634005;21086790;21111564;21143648;21289304;21476935;21820713;22204816;22282196;22343199;22646697;23128233;23216302;23469620;23502335;23651542;23674671;23896866;23936461;23948416;23953582;24752698;7510240;7704935;7737295;7749983;9418902;9488716 7293 P43489 ABBA01016022;ABBA01016023;AJ277151;AL162741;AMYH02000083;AW290885;AW293499;BC040257;BC105070;BC105072;CH471183;DQ118974;NM_003327;S76792;XM_005244794 AAB33944;AAI05071;AAI05073;AAZ15374;CAB96543;EAW56278;EAW56279;EAW56280;EAW56281;NP_003318;P43489;XP_005244851 Hs.129780 ACT35;CD134;IMD16;OX40;TXGP1L ACT35 antigen;ATC35 antigen;CD134 antigen;OTTHUMP00000001522;OX40 antigen;OX40 cell surface antigen;OX40 homologue;OX40L receptor;TAX transcriptionally-activated glycoprotein 1 receptor;lymphoid activation antigene ACT35;tax-transcriptionally activated glycoprotein 1 receptor;tumor necrosis factor receptor superfamily member 4;tumor necrosis factor superfamily, member 4 APPROVED protein-coding ENSG00000186827 HGNC:11918 02636 600315;615593 REVIEWED 1353622 TNFRSF6B tumor necrosis factor receptor superfamily, member 6b, decoy This gene belongs to the tumor necrosis factor receptor superfamily. The encoded protein is postulated to play a regulatory role in suppressing FasL- and LIGHT-mediated cell death. It acts as a decoy receptor that competes with death receptors for ligand binding. Over-expression of this gene has been noted in gastrointestinal tract tumors. Read-through transcription into this gene from the neighboring upstream gene, which encodes regulator of telomere elongation helicase 1 (RTEL1), generates a non-coding transcript. [provided by RefSeq, Feb 2011] 20 20 20 q13.3 59010549 59014298 + 62328004 62330051 + 63696651 63698698 + 1580863;6480464;8554872 10318773;10470851;10655513;11181995;11390428;11780052;11911831;11994433;12397645;12466117;12471113;12477932;12761893;12794752;12975309;14500635;14634066;14657214;14688085;14697332;15215185;15301860;15475369;15489334;15627206;15661928;16040301;16210617;16341674;17010447;17393415;17493146;17687076;17802823;17968950;18006694;18251184;18256354;18349319;18376232;18562337;18676680;18695885;18757243;18758464;18813347;18991242;19093253;19204726;19246462;19269042;19305072;19483191;19587706;19623168;19644047;19748482;19821006;19913121;20007581;20187130;20392250;20567955;20591579;20597837;20628086;20645287;20675196;20962851;20977315;21079743;21155709;21293109;21297633;21300286;21395182;21537832;21672030;21699018;22287720;22325083;22524850;22581854;22626963;22672288;22886559;23128233;23186064;23449012;23535732;23652586;23707413;23729807;23817777;23846297;23912906;23925044;23965943;24101127;24107265;24204567;24597666;24612949;9872321 8771 O95407 ABBA01021416;AF104419;AF134240;AF217794;AF217796;AL121845;AL353715;AMYH02037467;AW204999;AY358279;BC017065;BC034349;BM759033;CH471077;NM_003823 AAD03056;AAD29688;AAF33686;AAF35244;AAH17065;AAH34349;AAQ88646;EAW75242;EAW75243;EAW75244;EAW75246;EAW75247;EAW75248;NP_003814;O95407 Hs.434878 2108587 TNFRSF6B_2708 DCR3;DJ583P15.1.1;M68;M68E;TR6 OTTHUMP00000031583;decoy receptor 3;decoy receptor for Fas ligand;tumor necrosis factor receptor superfamily member 6B APPROVED protein-coding ENSG00000243509 HGNC:11921 04527 603361 REVIEWED 1298224 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 11340352 11382470 + 12227044 12269279 + 12167003 12209220 + 738128;1580863;1625350;2315115;2292150;5130927;5131145;5131441;5131448;5131147;5131262;5131439;5131158;5130879;5131423;5130893;5130963;5131442;5131257;5131270;5131148;5130970;5131255;5131445;5131209;5131261;5130960;5131250;5131154;5131112;5131155;5131206;5131251;5130917;5131211;5131274;5131280;5130931;5131265;5131275;5130892;5131286;5131425;5131429;5131434;6480464;6484113;6907045;7247422;7245573;7245475;6907414;7245519;7245518;7245546;7245544;7245520;7245532;7245571;7245537;7245539;7245541;7247423;7245534;8553023;7245476;7245510;7245944;5128661;7245511;7245536;7245512;2311357;7245530;7245941;7245540;7245529;8661761;8661750;8661747;8554872;8661748 10564241;10942422;11055823;11159038;11240015;11607787;12140350;12228317;12500222;12655295;12865254;15841213;15929959;16209246;16408124;1655258;17002564;18074478;18463260;18664626;18838275;19073786;19095579;19298452;19340514;19541932;19690440;19780901;19798748;19825522;19842848;19845893;19916860;20007930;20566746;20622144;20811626;20861605;21036476;21037022;21057386;21068718;21070800;21081778;21135513;21144722;21187445;21195213;21221075;21224756;21317434;21359923;21362018;21402953;21463515;21481092;21481476;21505354;21508170;21512145;21690068;21741153;21831964;22266663;22266664;22425187;22449555;22652595;22674120;22846145;23052485;23333565;23389459;23400706;8393677;8920779;9650354 10206649;10747083;10764746;10848577;10875917;10950109;11112773;11126399;11144293;11163081;11169260;11197692;11212177;11244088;11279055;11285131;11315843;11357933;11371414;11520075;11600223;11737221;11762942;11804591;11861282;11882518;11904678;11907088;11907583;11961180;11979305;12011375;12049175;12122509;12144133;12161545;12209506;12209507;12217957;12220546;12233877;12296856;12351485;12353079;12364441;12370298;12371624;12477932;12530121;12559634;12601524;12610052;12610797;12651071;12661999;12730509;12739039;12770792;12786601;12858434;12858454;12880679;12882979;12918703;12960285;1310388;1328224;1335762;14506926;14532286;14565595;14651520;14688072;14688526;14728878;14743216;14872483;15000697;15018649;15022314;15041705;15071724;15091317;15142217;15146559;15212671;15252214;15274667;15301860;15355698;15457442;15459750;15485837;15489334;15526005;15555301;15572357;15585313;15603867;15657078;15674653;15743036;15784704;15787661;15805680;15842589;15851552;15863392;15886863;15899873;15920055;15943902;16003175;16142859;16195372;16277675;16282562;16502120;1655619;16580225;1663076;16645020;16710414;16731080;16732050;16732051;16846840;16871413;16979382;16980123;17010968;17028114;17207711;17220297;17258924;17267158;17331078;17346438;17530646;17634906;17703412;17763205;17785864;17825894;17852784;17998218;18029348;18038243;18068948;18080762;18083240;18088549;18173921;18206417;18248655;18309487;18337349;18385279;18415772;18417150;18429822;18510047;18535030;18538149;18544535;18565259;18571427;18593464;18636124;18671942;18679053;18685868;18715339;18717726;18755894;18764880;18807256;18818748;19019335;19050632;19068596;19070941;19074885;19084540;19141860;19174780;19177266;19193342;19212208;19238748;19246939;19258923;19262425;19287455;1929203;19336370;19339767;19343543;19369902;19421420;19422935;19442614;19453261;19473970;19497711;19527514;19557004;19561157;19641466;19650780;1966549;19684152;19692652;19738620;19772798;19773279;19773451;19801788;19811435;19839997;19846171;19892918;19900796;19913121;20038584;20045350;20074459;20100586;20110607;20181891;20217072;20237496;20300049;20305143;20369486;20371430;20395596;20401725;20430728;20452482;20485444;20488723;20503287;20516030;20548340;20556591;20568250;20602615;20628086;20628624;20646319;20673868;20842464;20959405;20980627;21150695;21153348;21153362;21174572;21288590;21350240;21393509;21403886;21419569;21523796;2153136;21554999;21558270;21584225;2158863;2160731;2166946;21673044;2172983;2173696;21777909;21809341;21813066;21849023;21850048;21895688;21920667;21988832;21994466;21995493;22057614;22068019;22110694;22215119;22221522;22228740;22342236;22451321;22461090;22525685;22547679;22573350;22617158;22743059;22860894;22921902;23082052;23086255;23095497;23316846;23408847;23532748;23619127;23672298;23712715;23799986;23861542;23895422;23948613;24076392;24121042;24136332;24165468;24310780;24457057;24511129;24578190;7539446;7544915;7559483;7639698;7664431;7821811;7852363;7859281;7884318;7930591;7966397;8069916;8123048;8182064;8548810;8590321;8661109;8702708;8702885;8710854;9104814;9109395;9162022;9168896;9326234;9461607;9507943;9535738;9552007;9568681;9744279;9915784 7133 B5A977;P20333 AB030949;AB030950;AB030951;AB030952;ABBA01003075;AL031276;AL357835;AMYH02000307;AY148473;AY264804;AY342040;BC011844;BC042167;BC052977;BT019927;CH471130;CS068584;EU826615;GN344135;HI179124;JA362586;M32315;M35857;M55994;NG_029791;NM_001066;S63368;U52165;X80021 AAA36755;AAA59929;AAA63262;AAB19824;AAC50622;AAH11844;AAH42167;AAH52977;AAN72434;AAO89076;AAP88939;AAV38730;ACF47651;BAA89052;BAA89053;BAA89054;BAA89055;CAA56324;CAI84623;CAY56003;CBX53870;CCA94575;EAW71731;EAW71732;EAW71733;EAW71734;EAW71735;NP_001057;P20333 Hs.256278 1777453;1778361;2126947;2127684 G15915;GDB:315093;RH63769;SHGC-31494 CD120b;TBPII;TNF-R-II;TNF-R2;TNF-R75;TNF-RII;TNFBR;TNFR-II;TNFR1B;TNFR2;TNFR80;p75;p75TNFR OTTHUMP00000001784;p75 TNF receptor;p80 TNF-alpha receptor;soluble TNFR1B variant 1;tumor necrosis factor beta receptor;tumor necrosis factor binding protein 2;tumor necrosis factor receptor 2;tumor necrosis factor receptor superfamily member 1B;tumor necrosis factor receptor type II 1643585;2289443;2289516;2289613 BW396_H;BW413_H;BW442_H;SGHRL1_H APPROVED protein-coding ENSG00000028137 HGNC:11917 01862 191191 REVIEWED 1312546 TNFRSF9 tumor necrosis factor receptor superfamily, member 9 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008] 1 1 1 p36 7086974 7107941 - 7975931 8003225 - 7915871 7943165 - 1580863;6480464 10556203;10604232;11804328;11828369;11970964;12009595;12101260;12356681;12384425;12477932;12516549;12645943;13130507;14716821;15031666;15301860;15308117;15340161;15342556;15353478;15489334;15618293;15638367;15941918;16232366;16596186;16710414;17309825;17878391;17878400;18024793;18276843;18519814;18645038;18668547;18768897;18838252;19211796;19406689;19573080;19759901;19773279;19913121;20008291;20026323;20190752;20237496;20347151;20568250;20616340;20628086;20643812;21297633;21396356;21669186;21670469;21745658;21747409;21890473;21963611;22144129;22204816;22282196;22326955;22343053;22343199;22593548;22797667;22896640;22901750;23000965;23128233;23204227;23437083;23557259;23560068;23640752;23690480;23750604;23898208;24045181;24390342;24639347;24746207;24958847;2784565;7622190;8088337;8262389;8639902;9045669;9207223;9418902;9464265;9541583;9607925 3604 AAB34924;K7EJ11;K7EJQ2;Q07011 ABBA01035496;ABBA01035497;AK125490;AL009183;AMYH02000203;AW449076;AY438976;BC006196;BP381234;CH471130;L12964;NM_001561;U03397;XM_006710618 AAA53133;AAA62478;AAB34924;AAH06196;AAR05440;ABM83623;ABM87245;BAC86181;EAW71590;NP_001552;Q07011;XP_006710681 Hs.738942;Hs.86447 1653595;1679341;1849828;2184798;5015619;5037552 D11S3114;D8S2279;RH17617;RH64183;RH91876;SHGC-35316 4-1BB;CD137;CDw137;FLJ43501;ILA;MGC2172 4-1BB ligand receptor;CD137 antigen;OTTHUMP00000001360;T cell antigen ILA;T-cell antigen 4-1BB homolog;T-cell antigen ILA;homolog of mouse 4-1BB;induced by lymphocyte activation (ILA);interleukin-activated receptor, homolog of mouse Ly63;receptor protein 4-1BB;tumor necrosis factor receptor superfamily member 9 APPROVED protein-coding ENSG00000049249 HGNC:11924 03767 602250 REVIEWED 737288 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is one of the major receptors for the tumor necrosis factor-alpha. This receptor can activate NF-kappaB, mediate apoptosis, and function as a regulator of inflammation. Antiapoptotic protein BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins TRADD and TRAF2 have been shown to interact with this receptor, and thus play regulatory roles in the signal transduction mediated by the receptor. Germline mutations of the extracellular domains of this receptor were found to be associated with the autosomal dominant periodic fever syndrome. The impaired receptor clearance is thought to be a mechanism of the disease. [provided by RefSeq, Jul 2008] 12 12 12 p13.2 8054567 8067927 - 6437923 6451283 - 6328757 6342117 - 1624178;1624183;1624194;1624195;1624177;1624179;1624185;1624180;1624181;1624182;1624184;1624190;1580863;2292150;2315115;5130917;5130965;5130987;5131153;5131429;5131203;5131112;5130893;5130963;5131437;5131439;5131150;5130897;5131174;5131425;4143488;5131202;5130975;5131442;5131250;5130943;5131206;5131148;5131433;5131210;5130892;5131201;5131249;5131145;5131157;5131435;5131156;5131427;5130913;5131432;5131445;5130898;5130960;5130939;5131096;5131434;5130945;6480464;6484113;6907045;7240710;7245573;7245519;6907414;7245518;7245536;7245543;7245547;7245548;7245572;7245539;7245511;5131257;7245534;7245510;7245941;7245516;7401213;5128661;7245569;2311357;7245535;7245540;8554872;8661743;8661753;8661761;8548873;8661746;8661764;8699517;8661737;8661754;7794683;8661742;8661739;7394808;8661726;8661750;8661741;8661747;8661760;8661763;8661762;8661729;8661744;8661740 10564241;10753499;10902757;10906156;11055823;11208652;11240015;11882518;12023385;12500222;12655295;12752784;12824249;12935365;14600787;14697498;14970118;15044707;15117889;15746567;15929959;15998370;16077938;16083358;16209246;16442237;1655258;17074049;17109621;17182684;17200772;17389501;17442899;18074478;18347190;18463260;18552980;18838275;19073786;19095579;19148690;19201910;19497758;19541932;19635911;19643942;19690440;19825522;19842848;19845893;19864593;20370892;20417692;20422457;20435656;20448050;20484920;20525973;20556591;20559450;20646338;20651834;20695884;20824709;20967881;21070800;21097524;21144722;21145890;21150875;21152182;21221075;21224756;21248590;21283009;21296062;21359923;21362018;21402953;21481476;21512145;21690068;21712071;21868309;22042131;22266663;22531889;22652595;22728466;22801493;23052485;23333565;23400706;23423194;23874752;24257399;7912320;8393677;8920779;9582261 10187798;10187805;10199409;10339433;10356400;10359574;10400625;10634209;10706119;10755617;10848577;10875917;1087798;10911999;11002417;11002422;11035039;11072751;11078718;11098060;11163081;11175303;11196686;11212177;11226577;11443543;11522182;11528523;11562425;11598334;11606045;11676596;11684708;11737221;11755217;11786908;11801527;11821416;11861282;11904678;11909948;11920568;11934887;11937569;11947900;11961180;11985495;12017295;12040173;12049175;12082592;12105243;12107724;12115625;12147741;12189246;12209507;12209523;12220546;12353079;12376300;12391233;12477932;12530121;12559634;12601524;12610052;12644782;12651071;12661999;12690082;12706861;12730509;12748169;12748171;12753742;12761501;12768019;12786601;12811828;12818408;12832748;12858434;12879482;12887914;12887920;12911633;12913922;1310388;13130484;1315717;1331108;14585990;14610673;14671137;14694358;14702039;14728878;14743216;14872483;15018649;15041705;15063762;15071491;15146559;15188372;15247912;15251454;15274667;15288471;15289829;15301860;15310755;15457442;15465831;15485837;15489334;15492850;15502938;15526005;15542843;15586174;15659383;15692984;15707590;15743837;15787661;15817701;15818692;15842589;15851552;15943902;15949439;16043718;16043808;16115877;16134057;16142859;16153798;16195372;16216134;16227624;16234278;16260783;16277675;16282562;16289162;16291755;16344560;16447098;16463024;1648547;16533817;1655358;16580225;16611992;16680093;16731080;16732051;16859822;16968706;1698610;17010968;1702293;17051333;17075277;17105909;17234651;17267158;17324927;17346438;17431682;17477815;17530646;17564788;17665435;17665448;17686637;17688691;17693606;17703412;17763205;17785864;17852084;17921876;18022363;18037881;18058462;18067272;18068948;18078813;18083240;18086728;18163488;18167350;18174230;18180277;18206417;18243134;18248655;18275007;18287568;18333356;18337349;18338763;18408954;18415772;18445477;18508832;18510047;18512793;18538149;18541194;18544535;18571427;18606683;18621737;18625701;18676680;18679053;18715339;18717726;18724939;18776134;18807256;18818748;18936101;18939944;18949366;18990758;19019335;19029521;19070941;19077906;19084540;19116900;19170196;19193342;19238748;19242924;19246939;19258923;19287455;19289468;19322201;19336370;19339767;19369902;19390513;19390575;19448410;19453261;19505916;19523687;19524513;19525953;19527514;19541728;19556827;19579027;19582456;19593445;19594495;19625176;19641466;19673872;19692168;19692652;19701605;19738620;19741298;19772798;19773279;19773432;19773451;19784808;19789190;19794511;19796978;19801788;19804406;19815541;19826638;19854717;19865102;19879194;19879354;19890662;19892918;19906316;19913121;19948975;20045350;20062090;20066156;20074459;20074469;20098615;20100586;20110607;20237496;20301492;20331378;20333651;20371430;20400394;20421368;20430450;20430728;20446090;20448643;20452482;20453000;20457915;20458742;20483718;20497634;20503287;20506103;20511226;20516030;20532935;20564232;20566746;20568250;20602615;20628086;20635912;20654748;20673868;20695192;20811626;20825417;20930310;20955203;20980627;21029567;21037509;21048031;21068102;21113135;21113948;21124859;21132303;21153350;21153367;21153368;21225694;21256825;21284530;21288590;21315128;21316985;21321109;21331078;21350240;21385537;21393509;21399635;21418516;21420073;21523796;2153136;21552549;21555518;21565411;21567205;2158862;2158863;21602493;2170559;2170974;21724995;21737329;21789618;21813053;21819445;21833088;21850048;21880774;21920667;21930713;21963094;21976655;21988832;22036455;22059991;22099304;22115362;22179575;22209080;22215119;22228740;22235167;22272576;22281876;22288185;22297296;22311714;22343913;22396498;22535754;22547679;22568977;22609894;22617158;22675546;22733818;22749881;22848449;22860894;22945416;22994200;23000965;23019260;23032187;23081800;23082052;23086255;23117241;23160117;23182003;23205868;23207486;23269568;23316846;23321203;23322460;23322903;23360651;23405158;23461592;23490134;23493346;23494522;23505244;23526964;23532748;23619127;23620528;23624563;23648065;23745996;23746843;23894535;23908318;23975421;24024893;24130170;24130709;24130718;24165468;24174586;24361886;24386183;24511129;24557113;24578190;24668260;24681099;24726327;24735611;24805855;24980434;2848815;3001529;7156325;7601280;7664431;7758105;7852363;7859281;7876093;7901149;7995952;8077196;8182064;8288897;8387891;8565075;8612133;8621670;8808629;8906799;8934525;8939750;8943045;8985253;9038203;9045686;9082980;9115275;9126987;9215629;9237663;9510175;9557650;9560245;9563508;9568681;9585614;9642260;9753329;9915703 7132 F5GWJ4;F5H061;F5H4T5;F5H6V7;F5H6Z2;F5H7N1;F5H8A6;J9PH39;P19438 A21522;ABBA01017638;AC006057;AK056611;AK291088;AK298729;AK304517;AK308061;AK315509;AMYH02025949;AY131997;AY182755;BC010140;BF528949;CH471116;CS068582;DA664652;EU927389;JA362584;JN172914;KF455591;M33294;M58286;M60275;M63121;M75866;NG_007506;NM_001065 AAA03210;AAA36753;AAA36754;AAA36756;AAA61201;AAH10140;AAM77802;AAO23979;ABW03527;ABW03836;ACH57451;AEO89726;BAF83777;BAG37891;BAG51763;BAG60879;BAG65321;CAA01558;CAI84622;CCA94574;EAW88805;EAW88806;NP_001056;P19438 Hs.279594 1342143;1689392;1733578;1742911;1744001;2131808;2146586;2165756;5037552 D12S356;D12S889;D8S2279;G15949;GDB:214852;GDB:384764;RH75052;STS-M58286;WI-18755 CD120a;FPF;MGC19588;MS5;TBP1;TNF-R;TNF-R-I;TNF-R1;TNF-R55;TNF-RI;TNFAR;TNFR-I;TNFR1;TNFR1-d2;TNFR55;TNFR60;p55;p55-R;p60 OTTHUMP00000238438;OTTHUMP00000238440;OTTHUMP00000238441;tumor necrosis factor binding protein 1;tumor necrosis factor receptor 1;tumor necrosis factor receptor 1A isoform beta;tumor necrosis factor receptor superfamily member 1A;tumor necrosis factor receptor type 1;tumor necrosis factor receptor type I;tumor necrosis factor-alpha receptor APPROVED protein-coding ENSG00000067182 HGNC:11916 01861 142680;191190;614810 REVIEWED 1601902 TNFSF12-TNFSF13 TNFSF12-TNFSF13 readthrough This gene encodes a member of the tumor necrosis factor superfamily. It encodes a hybrid protein composed of the cytoplasmic and transmembrane domains of family member 12 fused to the C-terminal domain of family member 13. The hybrid protein is membrane anchored and presents the receptor-binding domain of family member 13 at the cell surface. It stimulates cycling in T- and B-lymphoma cell lines. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7478753 7491248 + 7452375 7464925 + 7549058 7561608 + 6480464;8554872 10706119;10956646;10973284;11571266;12370363;12411489;14555217;15846369;17307753;18295728;18474519;19913121;20628086;20967262;22197929;22558069;22864923;23118916;9743536 407977 O43508 ABBA01054872;ABBA01054873;AC016876;AI954750;AMYH02032908;AY081051;BQ016244;KF459571;NM_172089 AAI56812;AAL90443;NP_742086 Hs.54673 1655535;1678335;1796978;2129984 RH16009;RH98958;SHGC-56910;TNFSF12_268.2 TWE-PRIL OTTHUMP00000220414;tumor necrosis factor (ligand) superfamily, member 12-member 13 APPROVED protein-coding ENSG00000248871 HGNC:33537 05128;18205 REVIEWED 1312746 TNFRSF25 tumor necrosis factor receptor superfamily, member 25 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in regulating lymphocyte homeostasis. This receptor has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this receptor is mediated by various death domain containing adaptor proteins. Knockout studies in mice suggested the role of this gene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing of this gene in B and T cells encounters a programmed change upon T-cell activation, which predominantly produces full-length, membrane bound isoforms, and is thought to be involved in controlling lymphocyte proliferation induced by T-cell activation. [provided by RefSeq, Jul 2008] 1 1 1 p36.2 5635659 5640703 - 6520787 6527432 - 6461151 6466195 - 1580863;6480464;8554872 11094155;11181995;11376335;11606045;11793848;11819535;11911831;12477932;12875962;12882979;12975309;14702039;14759258;15241467;15301860;15760679;16517446;16986165;17085968;18411341;19674013;19773279;20125169;20568250;21153333;21421854;21672030;21722370;22043900;22641456;22956587;23443464;23658110;8875942;8889548;8934525;8994832;9052839;9114039;9446802;9560245;9615223;9915703 8718 K7EJY9;Q93038 AB051850;AB051851;AB308321;ABBA01035451;AF026070;AF026071;AK094463;AL158217;AMYH02000176;AMYH02000177;AY254324;AY358309;BC117189;BC143886;BM666370;CH471130;CS001236;NG_029910;NM_001039664;NM_003790;NM_148965;NM_148966;NM_148967;NM_148970;U72763;U74611;U75380;U75381;U78029;U83597;U83598;U83599;U83600;U94501;U94502;U94503;U94504;U94505;U94506;U94507;U94508;U94509;U94510;U94512;Y09392 AAB39714;AAB40918;AAB41432;AAB41433;AAB41434;AAB41435;AAB82288;AAC39556;AAC50819;AAC51192;AAC51193;AAC51306;AAC51307;AAC51308;AAC51309;AAC51310;AAC51311;AAC51312;AAC51313;AAC51314;AAC51315;AAC51316;AAI17190;AAI43887;AAO63495;AAQ88676;ADR83328;BAB40662;BAB40663;BAF64192;BAG52869;CAA70559;CAA70560;CAA70561;CAI48017;EAW71540;EAW71541;EAW71542;EAW71543;EAW71544;EAW71545;EAW71546;EAW71547;EAW71548;EAW71549;NP_001034753;NP_003781;NP_683866;NP_683867;NP_683868;NP_683871;Q93038 Hs.462529 2140561;2146641;2183834;5015619;5121712 D11S3114;RH12587;SHGC-57889;SHGC-74157;SHGC-74161 APO-3;DDR3;DR3;LARD;TNFRSF12;TR3;TRAMP;WSL-1;WSL-LR OTTHUMP00000000922;OTTHUMP00000000923;OTTHUMP00000000924;OTTHUMP00000000925;OTTHUMP00000220969;OTTHUMP00000220970;OTTHUMP00000220971;OTTHUMP00000220972;OTTHUMP00000220974;OTTHUMP00000220975;apoptosis inducing receptor;apoptosis-inducing receptor AIR;apoptosis-mediating receptor DR3;apoptosis-mediating receptor TRAMP;death domain receptor 3 soluble form;death receptor 3;death receptor beta;lymphocyte associated receptor of death;lymphocyte-associated receptor of death;translocating chain-association membrane protein;tumor necrosis factor receptor superfamily member 25;tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein) APPROVED protein-coding ENSG00000215788 HGNC:11910 04532 603366 REVIEWED 1350160 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010] 17 17 17 p13 7478712 7487530 + 7452375 7461207 + 7549058 7557890 + 1580863;6480464;8554872 10085077;10706675;11094155;11728344;11777967;11839778;12421989;12445828;12477932;12496418;12529173;12787562;12975309;14961121;15056843;15140220;15353286;15489334;15604260;15611130;15681834;15735761;16503147;16526941;16888023;17018610;17124496;17178215;17383968;17548657;17918252;17981571;18174230;18465450;18606850;18945822;18945991;18992019;19000449;19018248;19233685;19349318;19398263;19473660;19482507;19505454;19531747;19773279;19785730;19828625;19854517;19895311;19963275;20004376;20164033;20189297;20299688;20303491;20358293;20382683;20385556;20430947;20610643;20726330;20810696;21130992;21153335;21153336;21153337;21163672;21190865;21211655;21211989;21249128;21303425;21330486;21334074;21435232;21479966;21483105;21525013;21681381;21691937;21693297;21697814;21765951;21788066;21797919;21884467;21962403;21968693;22009442;22055894;22081603;22278019;22309961;22356682;22438963;22672874;22719208;22727560;22767506;22819243;22896023;22937125;23288170;23320797;23438059;23443741;23469193;23493554;23503679;23524849;23651848;23750247;23783093;23816995;23845567;23849432;23918987;23975833;23999007;24056367;24408972;24510853;24548423;9405449;9560343 8742 C0H5Y4;O43508;Q4ACW9 AB222993;ABBA01054872;ABBA01054873;AC016876;AF030099;AF055872;AI091441;AMYH02032908;AY358870;BC019047;BC071837;BC104420;CH471108;KF459571;NM_003809;NR_037146 AAC39724;AAC51923;AAH19047;AAH71837;AAI04421;AAQ89229;ADZ15981;BAE16557;EAW90179;NP_003800;O43508 Hs.54673 1678335;1796978 RH98958;TNFSF12_268.2 APO3L;DR3LG;MGC129581;MGC20669 APO3 ligand;APO3/DR3 ligand;OTTHUMP00000135287;OTTHUMP00000205659;TNF-related WEAK inducer of apoptosis;TWEAK;tumor necrosis factor ligand superfamily member 12 APPROVED protein-coding ENSG00000239697 HGNC:11927 04074 602695 REVIEWED 737226 TNFRSF8 tumor necrosis factor receptor superfamily, member 8 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 1 p36 11236734 11317553 + 12123434 12204264 + 12063377 12144207 + 734719;1580863;2312735;6480464;8554872 10192335;1310894 10641597;10764746;11728464;11754357;11891807;11918534;11960307;11971184;11986285;12091351;12165500;12389614;12477932;12553555;12557237;12568298;12648280;12799531;12875982;1330892;14726963;15026356;15033921;15050749;15175022;15265955;15291361;15301860;15356338;15644135;15782119;15876358;15880060;15919463;15964393;15990453;15996240;16108827;16108830;16147992;16244703;16372246;16378078;16641601;16651853;16722935;16771810;16842522;16980071;17103120;17106517;17175343;17175368;17241668;17557078;17616534;17853184;17853188;17889168;17912490;17965727;17973241;18047935;18049429;18165785;18187570;18201430;18320364;18365380;18589105;18689277;18714536;18793267;18926413;18983807;19010142;19032830;19040559;19100393;19100394;19126420;19131627;19243308;19415777;19540595;19593445;19641626;19765439;19773279;19782609;19862340;19890350;19898220;20036333;20061689;20166880;20237496;20353374;20379614;20430176;20568250;20591497;20600901;20600903;20620210;20625494;20631311;20814632;21181928;21186345;21261503;21376809;21505378;21860351;21986812;22182633;22193227;22369302;22446727;22451116;22472952;22628304;22715589;22759804;22940451;22966913;23028875;23039325;23079227;23119111;23244086;23268289;23333304;23343832;23477385;23503451;23545938;23654079;23716537;23716562;23790231;23797717;23857000;23928467;24111625;24375064;24659185;24747435;24805854;25015289;2537734;6754630;7527901;8183550;8627180;8662842;8839832;8999898;9104814;9168896;9353251;9511754 943 A5D8T4;D6RAG8;P28908 ABBA01003072;ABBA01003073;ABBA01003074;AJ272029;AJ289159;AL357835;AMYH02000305;AMYH02000306;AMYH02000307;AY498860;BC063482;BC073839;BC136400;BC141804;BC171762;CH471130;D86042;HI179076;HI179078;HI574144;HI574146;KF495861;M83554;NG_029573;NM_001243;NM_001281430;S75768;XM_006711049 AAA51947;AAD14188;AAH63482;AAH73839;AAI36401;AAI41805;AAR32099;BAA12973;CAC03488;CAC16652;CBX47561;CBX47562;CBX53846;CBX53847;EAW71730;NP_001234;NP_001268359;P28908;XP_006711112 Hs.1314 1664629;1737163;1740591;1744683;1745975;1798286;2147001 D11S3023;D1S3098;D1S3251;GDB:549221;RH124848;SHGC-74226;TNFRSF8_1685 CD30;D1S166E;Ki-1 CD30 antigen;CD30L receptor;Ki-1 antigen;OTTHUMP00000001783;OTTHUMP00000221481;cytokine receptor CD30;lymphocyte activation antigen CD30;tumor necrosis factor receptor superfamily member 8 APPROVED protein-coding ENSG00000120949 HGNC:11923 01074 153243 REVIEWED 1352930 TNFSF14 tumor necrosis factor (ligand) superfamily, member 14 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 6604701 6612155 - 6661264 6670599 - 6661253 6670588 - 1580863;6480464;8554872 10318773;10799510;11000208;11035077;11390428;11673523;11714797;11742858;11748260;11994433;12215452;12393901;12456019;12466117;12471113;12477932;12571250;12767529;12768436;12836198;12975309;15115612;15210782;15215185;15489334;15634882;15833878;15895390;15917993;15944326;16091223;16186421;16861346;16934497;17010447;17543278;17652173;17826757;17938804;18292573;18320356;18384455;18412315;19019090;19023130;19380287;19573080;19593445;19701890;19716382;19773279;19826934;20042587;20096889;20237496;20424473;20568250;20592286;20677014;20804734;20826693;21048031;21117871;21832049;21833088;21922073;22172512;22221541;22519595;22775554;23037546;23391709;23514280;24044961;9462508;9560343;9739048;9765287 8740 O43557 ABBA01051468;ABBA01051469;AC008760;AF036581;AF064090;AF542509;AK026704;AK292037;AMYH02035360;AY028261;AY358812;BC018058;CH471139;CR541854;CR541871;CS330726;HI573998;NM_003807;NM_172014;XM_005259670 AAC25169;AAC39563;AAI52849;AAK26160;AAN34658;AAQ89171;BAF84726;CAG46652;CAG46669;CAL00173;CBX47488;EAW69072;EAW69073;NP_003798;NP_742011;O43557;XP_005259727 Hs.129708 1796980;5015861;5109281;7185938 D10S16;D1S1425;TNFSF14_1251 CD258;HVEML;LIGHT;LTg;TR2 delta transmembrane LIGHT;herpes virus entry mediator ligand;herpesvirus entry mediator A;herpesvirus entry mediator ligand;herpesvirus entry mediator-ligand;ligand for herpesvirus entry mediator;tumor necrosis factor ligand superfamily member 14;tumor necrosis factor receptor-like 2;tumor necrosis factor superfamily member LIGHT APPROVED protein-coding ENSG00000125735 HGNC:11930 05157 604520 REVIEWED 1314162 TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010] 17 17 17 p13.1 7487932 7491248 + 7461609 7464925 + 7558292 7561608 + 1580863;6480464;6907045;8554872 10331498;10662545;10706119;10956646;10973284;11571266;12070306;12154359;12370363;12411489;12477932;12730512;12975309;14504101;14607922;14691452;14702039;14978135;14988498;15070697;15105291;15488762;15489334;15542592;15827134;15846369;15851487;15860672;15981083;16087247;16094704;16239971;16793914;16914324;16916610;16919470;16931039;17119122;17178712;17190854;17307753;17353162;17569747;17768131;17896803;17942754;17968879;18046446;18204790;18328673;18366696;18403603;18423122;18618015;18718031;18838478;19037609;19074885;19141538;19175985;19199708;19291294;19321861;19395025;19456850;19466596;19565488;19573080;19573525;19741596;19758161;19788740;19806256;19824872;19828625;19840904;19842833;19909733;19913121;19997650;20003335;20116334;20237496;20302641;20518823;20599414;20628086;20709908;20810514;20890272;20945608;21176341;21293157;21483105;21505913;21527528;21585290;21642598;21687682;21707303;21724695;21733733;21765951;21889147;21984075;21988832;22059379;22102726;22169295;22197929;22531553;22558069;22593611;22705846;22719887;22752534;22763977;22783569;22851468;22864923;23010686;23071284;23088438;23118916;23317407;23324534;23383143;23768867;23775715;23792260;23846230;23867993;23887020;24141333;24250222;24376672;24412409;24436270;8125298;9743536 8741 B3KR02;C9JF68;C9JFN2;K7EJ28;O75888;Q2QBA2 AB222992;ABBA01054873;AC016876;AF046888;AF114011;AF114012;AF114013;AF136294;AF184972;AF513501;AI828515;AK090698;AK225556;AK301221;AK314518;AMYH02032908;AY081050;AY358880;AY377858;BC008042;BF793371;BI764562;BI910977;BT019561;BT019562;CH471108;CR542040;CR542073;DQ149579;EF211088;HA635674;HC049981;HC086525;HH836204;NG_029949;NM_001198622;NM_001198623;NM_001198624;NM_003808;NM_172087;NM_172088;NR_073490 AAC61312;AAD29422;AAF01321;AAF59828;AAF59829;AAF59830;AAH08042;AAL90442;AAM47279;AAQ89239;AAQ91388;AAV38368;AAV38369;ABA39072;ABQ88322;ACE86739;ACE87425;BAE16556;BAG52214;BAG62794;CAG46837;CAG46870;CAZ39531;CBH32718;CBI67654;CBX33275;EAW90175;NP_001185551;NP_001185552;NP_001185553;NP_003799;NP_742084;NP_742085;O75888 Hs.54673 1655535;1678335;1796978;2129984;5024541 D1S3688;RH16009;RH98958;SHGC-56910;TNFSF12_268.2 CD256;FLJ57090;TALL-2;TALL2;TRDL-1;UNQ383/PRO715;ZTNF2 APRIL;OTTHUMP00000135284;OTTHUMP00000174779;OTTHUMP00000174780;OTTHUMP00000174781;OTTHUMP00000174782;OTTHUMP00000174783;TNF- and APOL-related leukocyte expressed ligand 2;TNF-related death ligand 1;a proliferation inducing ligand;a proliferation-inducing ligand;ligand;tumor necrosis factor (ligand) superfamily member 13 transcript variant delta;tumor necrosis factor ligand superfamily member 13;tumor necrosis factor ligand superfamily member 13 epsilon;tumor necrosis factor-like protein ZTNF2;tumor necrosis factor-related death ligand-1 APPROVED protein-coding ENSG00000161955 HGNC:11928 604472 REVIEWED 1312875 TNFSF18 tumor necrosis factor (ligand) superfamily, member 18 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq, Jul 2008] 1 1 1 q23 146119822 146129565 - 173010360 173020103 - 173041220 173050963 - 1580863;6480464 10037686;10074428;12477932;12975309;14521928;15326137;15489334;16179414;16397134;16874737;16955181;17360848;17449724;17602748;17914571;18040044;18378892;18689545;18924213;19423540;19573080;19760754;19773279;19913121;20190752;20228835;20237496;20331378;20406964;20438785;20568250;20628086;21102463;21693309;21705620;22112394;22417213;22649191;23128233;23251213;23935647 8995 Q9UNG2 ABBA01027910;AF117713;AF125303;AK313273;AL031599;AMYH02002151;AY358868;BC069111;BC069319;BC093986;BC112032;BX473859;CH471067;CQ968998;NM_005092 AAD19695;AAD22634;AAH69111;AAH69319;AAH93986;AAI12033;AAQ89227;BAG36082;CAI38637;EAW90937;NP_005083;Q9UNG2 Hs.248197 1691810;1692846;2218102 G42261;G42290;TNFSF18_2974 GITRL;MGC138237;TL6;hGITRL AITR ligand;AITRL;GITR ligand;OTTHUMP00000032703;activation-inducible TNF-related ligand;glucocorticoid-induced TNF-related ligand;glucocorticoid-induced TNFR-related protein ligand;tumor necrosis factor ligand superfamily member 18 APPROVED protein-coding HGNC:11932 04874 603898 REVIEWED 737096 TNFSF15 tumor necrosis factor (ligand) superfamily, member 15 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 9 9 9 q32 88199259 88215833 - 117546915 117568408 - 114784635 114806128 - 1580863;6480464 10597252;11739281;11911831;11923219;12345;12477932;12882979;14568967;15207783;15760679;16061878;16221758;16604264;16966713;17030188;17371957;17513783;17663424;17935696;18287561;18338776;18422820;18587394;18757243;18758464;19124533;19174806;19251437;19262684;19422935;19522538;19543369;19760754;19786547;19815424;19839006;19885571;20018961;20125169;20150621;20176734;20237496;20349123;20367632;20410491;20473688;20675196;20848476;20863486;20886065;21072187;21102463;21153332;21153333;21217782;21228792;21297633;21300286;21368235;21537832;21636646;21672030;21699788;21730793;22210436;22641456;22684480;23000144;23128233;23204549;23250276;23266558;23333304;23382586;23404494;23545578;23598291;23642711;24005100;24023314;24269700;24384427;24814505;9434163;9872942;9880523 9966 O95150;X6R8I9 ABBA01042658;AF039390;AF520785;AK291642;AK313721;AL390240;AMYH02021521;AW014795;AY434464;BC069435;BC074940;BC074941;BC104462;BC104463;CH471090;GM872837;NG_011488;NM_001204344;NM_005118 AAD08783;AAH69435;AAH74940;AAH74941;AAI04463;AAI04464;AAM77366;AAR98573;BAF84331;CAV13212;EAW87431;NP_001191273;NP_005109;O95150 Hs.23349 1713299;1796982;2160722;5022578;5037552 D1S1423;D8S2279;D9S2088;RH120641;TNFSF15_410 MGC129934;MGC129935;TL1;TL1A;VEGI;VEGI192A OTTHUMP00000022739;TNF ligand-related molecule 1;TNF superfamily ligand TL1A;tumor necrosis factor ligand superfamily member 15;vascular endothelial cell growth inhibitor;vascular endothelial growth inhibitor-192A APPROVED protein-coding ENSG00000181634 HGNC:11931 04956 604052 REVIEWED 1344832 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 3 3 3 q26 170621889 170639888 - 172223298 172241297 - 172505508 172523507 - 1580863;2312743;2312742;2312747;2312737;2312746;2290500;2312738;2312739;2312740;2312744;4143170;2312745;4143171;6480464;6484113;6907045;8554872 12577054;12882912;14872496;16313792;17000905;17403612;17641850;18057577;18287563;18649770;19385008;19572802;19961901 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901;24002210;24019170;24040204;24065684;24078627;24083751;24097299;24100030;24145180;24148916;24155891;24167941;24184557;24194568;24204567;24213373;24223304;24272336;24272484;24280212;24287696;24299309;24344047;24438025;24446659;24447304;24466325;24481457;24660552;24866247;24909691;8663110;8777713;8793301;9082980;9242610;9311998;9314565;9325248;9430226;9520411;9613612;9754559;9830064 8743 H7C246;P50591;Q6IBA9 ABBA01058648;AC007919;AC016938;AF178756;AK296085;AK312742;AMYH02008147;AY312579;BC009795;BC020220;BC032722;BT019564;CH471052;CQ892411;CR456895;CS276168;DA041872;DA969653;DQ848564;EF064708;EU183231;HA637646;JA362607;NM_001190942;NM_001190943;NM_003810;NR_033994;U37518;U57059 AAB01233;AAC50332;AAH32722;AAR16184;AAV38371;ABI24016;ABK41891;ABM81799;ABM84955;ABW24658;BAG35612;BAG58840;CAG33176;CAH68809;CAL33971;CAZ39545;CCA94584;EAW78465;EAW78466;EAW78467;NP_001177871;NP_001177872;NP_003801;P50591 Hs.478275 1796976;1848185;2148068 RH66570;SHGC-77549;TNFSF10_266 APO2L;Apo-2L;CD253;TL2 Apo-2 ligand;OTTHUMP00000211018;OTTHUMP00000211019;TNF-related apoptosis inducing ligand TRAIL;TNF-related apoptosis-inducing ligand;TRAIL;chemokine tumor necrosis factor ligand superfamily member 10;tumor necrosis factor (ligand) family, member 10;tumor necrosis factor apoptosis-inducing ligand splice variant delta;tumor necrosis factor ligand superfamily member 10 APPROVED protein-coding ENSG00000121858 HGNC:11925 04670 603598 REVIEWED 1345205 TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011] 13 13 13 q32-q34 89766721 89804112 + 108921875 108960832 + 108269527 108308484 + 1580863;6480464;6907045 10331498;10347144;10359578;10398604;10661873;10801128;10880535;10908663;10956646;10973284;11509691;11509692;11714784;11823048;11827482;11853672;11862220;12115621;12149433;12154359;12351410;12370363;12389615;12408045;12424625;12477932;12531790;12715002;12721620;12755599;12865416;12867412;12975309;14504101;14607922;14630796;14673998;14978135;15070697;15230285;15251985;15358625;15470519;15489334;15542592;15634908;15728515;15827134;15843552;15860672;15981083;16052575;16239971;16242914;16301744;16304043;16356193;16475789;16497967;16507129;16547227;16604261;16623930;16740602;16802367;16818641;16825497;16838132;16840730;16863659;16914324;16916609;16916610;16919470;16931037;16931038;16931039;17119117;17257595;17296586;17346422;17393290;17442944;17469105;17530706;17556024;17584580;17592744;17640886;17825416;17896803;17907168;17908986;17942754;17947475;17963166;17988587;18050196;18064389;18172003;18174230;18204790;18243342;18249037;18328673;18350548;18366696;18403603;18410958;18490739;18528969;18551073;18556064;18566393;18586330;18606652;18617551;18625509;18628489;18637712;18641361;18668552;18687360;18715196;18718031;18775026;18784835;18843286;18852352;18988879;19005881;19026118;19028483;19051265;19074885;19118513;19124722;19135236;19168788;19175985;19187273;19190830;19249491;19291294;19339060;19366834;19383901;19393234;19395025;19421221;19439611;19499314;19545677;19565488;19604268;19731825;19758161;19773279;19774453;19794139;19828625;19840904;19841639;19863844;19877053;19909733;19935379;20004378;20089415;20237496;20302641;20357250;20428981;20546021;20561430;20568250;20646006;20802378;20813000;20870901;20890272;20927378;20935029;20956327;20974656;21039888;21051868;21145253;21177756;21211990;21239754;21293157;21372118;21483105;21505913;21518495;21537154;21538321;21557212;21559937;21628416;21632709;21707303;21733733;21747319;21765951;21790703;21832049;21849293;21883351;21889147;22018243;22059379;22102726;22124120;22169295;22325420;22338013;22340436;22399512;22463935;22498341;22516957;22526370;22531553;22537850;22575417;22593611;22718279;22719887;22728080;22736090;22749832;22752534;22822003;22850273;22851468;22879463;22883025;22896003;22898048;22927996;23039894;23088438;23264555;23271704;23272079;23276925;23303823;23317407;23322463;23324534;23336587;23342125;23436580;23493554;23557796;23604864;23620746;23639027;23684916;23685362;23686487;23768867;23773925;23842189;23846230;23884224;23936794;23940742;24084099;24141333;24289101;24376672;24435807;24534784;24616478;24670802;24780395;24802131;24864436;24906685 10673 Q9Y275 AB073225;ABBA01027022;ABBA01027023;AF116456;AF132600;AF134715;AF136293;AF186114;AK309629;AL157762;AMYH02028680;AW151367;AW963062;AY129225;AY129226;AY129227;AY129228;AY302751;AY358881;BC020674;BI818459;BQ776352;BQ778438;BX482686;CH471085;CR541818;D79690;EF064706;HM636064;NG_029524;NM_001145645;NM_006573;XM_005254029 AAD21092;AAD25356;AAD29421;AAF01432;AAF60219;AAH20674;AAN08421;AAN08422;AAN08423;AAN08424;AAP83164;AAQ89240;ABK41889;ABM82339;ABW03435;ADK91575;BAB90856;CAG46617;EAX09099;EAX09100;EAX09101;NP_001139117;NP_006564;Q9Y275;XP_005254086 Hs.525157 2164183;5114020 RH93489;SHGC-36171 BAFF;BLYS;CD257;DTL;TALL-1;TALL1;THANK;TNFSF20;ZTNF4 ApoL related ligand TALL-1;B-cell activating factor;B-cell-activating factor;B-lymphocyte stimulator;Delta4 BAFF;OTTHUMP00000018691;TNF and ApoL-related leukocyte expressed ligand 1;TNF homolog that activates apoptosis;TNF- and APOL-related leukocyte expressed ligand 1;b lymphocyte stimulator;delta BAFF;dendritic cell-derived TNF-like molecule;tumor necrosis factor (ligand) superfamily, member 20;tumor necrosis factor ligand superfamily member 13B;tumor necrosis factor superfamily, member 13b;tumor necrosis factor-like protein ZTNF4 APPROVED protein-coding ENSG00000102524 HGNC:11929 04914 603969 REVIEWED 1347343 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008] 13 13 13 q14 24194611 24239896 + 43136872 43182149 + 42562736 42608013 + 1625350;1580863;2302361;2302324;2302363;6480464;6484113;6907045;7240710;8554872;8699517 17002564;18417124;18592139 10224132;10580503;10635328;10708588;11606048;11741951;11751921;11792569;12043011;12221720;12364326;12393586;12393684;12469211;12477932;12564836;12574344;12619938;12682046;12698202;12702561;12756027;12817763;12824189;12923331;12954625;12975380;14699143;14734048;14751235;15044512;15205949;15221493;15248232;15290725;15292354;15304486;15313187;15320903;15322748;15377473;15449141;15476205;15489334;15554353;15564564;15613999;15615493;15615497;15671541;15710592;15722361;15731115;15732858;15794927;15894268;15972386;16052586;16109714;16133687;16143421;16144909;16191370;16215261;16220542;16234249;16240334;16249885;16270354;16317958;16522681;16533764;16572175;16583245;16612568;16681444;16700737;16704959;16730419;16861684;16925460;16953816;16969487;17018528;17042716;17053039;17133360;17151927;17195907;17197168;17241109;17288531;17328065;17328075;17331078;17448630;17506059;17520299;17558893;17560137;17572386;17580719;17593489;17606458;17620507;17632511;17634140;17634142;17667143;17702740;17703334;17852826;17876645;17881498;17891780;17895323;17966895;17970704;17982618;17990294;17993768;18061491;18064531;18072013;18073309;18160010;18172654;18174230;18208894;18253488;18271850;18298349;18301383;18305214;18311801;18319315;18361931;18362509;18367263;18369625;18381203;18389210;18399769;18406448;18435789;18445777;18480302;18502820;18528653;18539107;18556224;18565244;18565252;18586671;18589796;18606301;18606662;18617513;18634923;18645583;18668542;18710934;18727653;18754324;18767923;18802807;18928898;18976975;19008470;19058084;19058836;19073256;19079262;19085839;19105036;19112497;19131500;19134349;19158438;19170075;19185505;19190327;19298221;19299182;19299513;19325145;19352306;19379170;19401376;19415676;19416721;19446344;19449178;19453261;19458885;19473572;19502537;19546479;19548455;19554506;19556344;19633200;19662974;19671684;19699688;19705167;19716455;19781765;19793762;19810098;19847430;19877052;19896533;19913121;19934266;19940926;19967657;20033478;20066901;20084381;20157786;20167120;20205168;20225273;20231205;20237496;20333869;20379614;20412401;20416172;20431232;20506157;20506523;20531232;20533289;20534768;20554715;20628086;20631064;20663885;20690034;20718662;20848544;20861651;20869948;20881963;20890036;20932948;20974615;21074311;21087777;21102463;21124946;21159831;21193069;21259010;21290130;21316442;21326202;21327451;21327765;21328055;21328467;21331661;21352301;21359671;21370405;21371424;21401926;21413932;21474331;21479680;21479768;21514280;21533022;21547906;21561598;21565793;21643971;21649792;21692859;21708014;21725611;21742767;21748518;21777519;21802729;21810381;21814016;21814018;21814019;21814020;21814021;21814022;21814023;21814024;21814025;21814026;21850548;21868322;21880134;21900206;21903860;21941412;21963155;21964949;21970938;21991382;21992185;22001124;22001292;22023082;22025323;22027240;22034880;22049226;22053710;22102368;22116393;22119834;22120987;22172512;22176920;22178057;22185226;22207352;22214279;22242921;22268274;22278426;22278625;22326262;22330139;22402034;22490874;22531921;22546829;22556124;22592030;22627031;22634178;22640692;22664871;22698523;22704876;22705116;22709525;22715006;22753650;22792071;22848465;22867712;22929916;22936827;22952578;22955577;22989723;23018352;23077504;23139212;23176170;23177932;23178378;23183242;23190522;23241893;23244167;23267146;23329761;23336103;23396210;23404437;23437003;23439434;23440406;23457386;23499553;23509146;23516466;23531404;23549459;23600327;23612487;23666878;23677868;23697850;23698708;23710436;23744843;23752595;23756197;23762088;23845465;23856613;23869610;23915851;23959668;23971629;23990468;24040204;24048682;24066029;24161214;24200492;24249740;24272640;24277958;24296448;24326209;24448976;24574213;24664887;24710939;24726460;24780728;24875904;24958900;9312132;9367155;9396779;9520411;9568710 8600 O14788;Q54A98;Q5T9Y4 AA504211;AB037599;AB061227;AB064268;AB064269;AB064270;ABBA01021250;AF013171;AF019047;AF053712;AL139382;AMYH02027931;BC040889;BC074823;BC074890;BC117286;BC117288;BQ007726;CH471075;CS110677;GM980137;NG_008990;NM_003701;NM_033012 AAB86811;AAC39731;AAC51762;AAH74823;AAH74890;AAI17287;AAI17289;ADR83357;BAA90488;BAB71768;BAB79693;BAB79694;BAB79695;CAJ09926;CAX24322;EAX08679;EAX08680;EAX08681;NP_003692;NP_143026;O14788 Hs.333791 1298148;1697046;1754213;1798288 D13S325;RH102002;SHGC-132244;TNFSF11_2446 CD254;ODF;OPGL;OPTB2;RANKL;hRANKL2;sOdf OTTHUMP00000018328;OTTHUMP00000178585;TNF-related activation-induced cytokine;TRANCE;osteoclast differentiation factor;osteoprotegerin ligand;receptor activator of nuclear factor kappa B ligand;receptor activator of nuclear factor kappa-B ligand;tumor necrosis factor ligand superfamily member 11 APPROVED protein-coding ENSG00000120659 HGNC:11926 04031 259710;602642 REVIEWED 1351958 TNFSF8 tumor necrosis factor (ligand) superfamily, member 8 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 9 9 9 q33 88312551 88340202 - 117655623 117692875 - 114893343 114930595 - 1580863;6480464;8554872 10878352;11728464;11751393;11754357;11960307;12477932;12553555;16372246;16964309;18636124;18689277;19208589;19573080;19657367;19773279;20237496;20568250;21102463;21292647;21297633;21480186;22033252;22628304;23128233;23266558;23333304;25059065;7528856;8161776;8391931;9349718;9524575;9558389 944 P32971;Q52M88 AA748015;ABBA01042658;AF006381;AF006382;AF006383;AF006384;AK313619;AL133412;AL583443;AMYH02021521;AW118787;BC093630;BC111939;BX108999;CD690231;CH471090;L09753;NM_001244;NM_001252290;XM_006717325 AAA74594;AAB97877;AAH93630;AAI11940;BAG36381;EAW87432;EAW87433;NP_001235;NP_001239219;P32971;XP_006717388 Hs.494901;Hs.654445 1796986;1846641;2127862;2144176;2176020;5024543 D1S3690;D9S1715;RH11969;SHGC-32411;SHGC-54273;TNFSF8_274 CD153;CD30-L;CD30L;CD30LG;MGC138144 CD153 antigen;CD30 antigen ligand;CD30 ligand;OTTHUMP00000022762;tumor necrosis factor ligand superfamily member 8 APPROVED protein-coding ENSG00000106952 HGNC:11938 04852 603875 REVIEWED 1343892 TNFSF9 tumor necrosis factor (ligand) superfamily, member 9 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008] 19 19 19 p13.3 6470827 6475769 + 6531010 6535939 + 6528562 6535928 + 1580863;2317353;2317346;2317348;2317349;2317352;2317350;6480464 10202049;11564827;16596186;16970683;17325342;17460060 10528187;10850651;10946324;11994439;12477932;12590704;12645943;13130507;14746806;14752253;15031666;15489334;16204238;16287062;16341674;17496895;17855813;17972956;17977894;18026115;18395851;19029446;19217084;19225975;19423540;19573080;19684160;19759901;19773279;20008791;20032458;20237496;20303781;20406964;20422976;20438785;20520765;20568250;20628624;20670353;21139048;21153322;21745658;22021067;22526397;22797667;23095505;23620528;24084649;24198185;24639347;8088337;8405064;9045669;9418902;9607925 8744 P41273 ABBA01051460;ABBA01051461;AC010503;AI357267;AK313999;AMYH02035355;BC104805;BC104807;BM790119;BX107825;CH471139;NM_003811;U03398;XM_006722931 AAA53134;AAI04806;AAI04808;BAG36711;EAW69076;EAW69077;NP_003802;P41273;XP_006722994 Hs.1524 2129745;2156135 G15865;SHGC-35317 4-1BB-L;4-1BBL;CD137L 4-1BB ligand;homolog of mouse 4-1BB-L;receptor 4-1BB ligand;tumor necrosis factor ligand superfamily member 9 APPROVED protein-coding ENSG00000125657 HGNC:11939 05861 606182 REVIEWED 1345164 TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren's syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 1 1 1 q25 146262332 146285933 - 173152870 173176471 - 173183731 173207332 - 1580396;1580863;6480464;7240710 15750594 10358148;11069062;11197696;11346458;12134113;12477932;12624783;12798307;15034038;15100674;15218969;15356117;15470070;16272289;16275760;16710414;16905106;16924108;17016617;17166734;17185358;17584577;17666213;18059267;18060034;18174230;18356244;18397322;18398332;18501882;18674525;18718855;18832690;18987746;18998106;19029446;19029970;19083191;19092840;19357697;19494280;19573080;19578796;19663699;19773279;19778912;19838193;19913121;19951374;1996093;20012871;20139223;20190752;20237496;20307208;20331378;20568250;20628086;20677014;20844189;20848568;20861858;20881011;20962850;21068098;21102463;21143648;21187296;21239696;21397857;21402531;21441570;21445270;21476935;21781408;21820713;21986129;22156349;22422496;22646697;22760717;22820624;22847298;22850862;22870213;23184501;23216302;23273568;23469620;23589118;23622253;23635951;23740937;23874208;23936824;23948416;23953582;24679586;7913952;8076595;8642328;9108415;9378971;9418902;9603911;9862675 7292 P23510 AB007839;AB042988;ABBA01027910;AK297932;AL022310;AMYH02002152;BC041663;BQ007105;CH471067;CR542033;D90224;NG_011477;NM_001297562;NM_003326;R45433;X79929;XM_005245475 AAH41663;BAA14259;BAA31196;BAB18304;BAG60249;CAA56284;CAG46830;EAW90938;EAW90939;EAW90940;NP_001284491;NP_003317;P23510;XP_005245532 Hs.181097 1658082;1692854;1850849;2109985;2173540 G15923;G42294;RH17450;SHGC-12820;TNFSF4_270 CD134L;CD252;GP34;OX-40L;OX40L;OX4OL;TXGP1 CD134 ligand;OTTHUMP00000032704;OX40 antigen ligand;TAX transcriptionally-activated glycoprotein 1;glycoprotein Gp34;tax-transcriptionally activated glycoprotein 1 (34kD);tumor necrosis factor ligand superfamily member 4 APPROVED protein-coding ENSG00000117586 HGNC:11934 04668 603594;608446 REVIEWED 1317070 TNIP2 TNFAIP3 interacting protein 2 This gene encodes a protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014] 4 4 4 p16.3 2654688 2669415 - 2743387 2758103 - 2741660 2756376 - 6480464 10385526;11389905;11390377;12080044;12477932;12595760;12609966;12753905;12933576;14653779;14702039;14743216;15169888;15474016;15604093;16344560;16480954;16554025;16633345;17038805;18029035;18212736;18622428;19285159;19373254;19464428;19763089;19898481;21266526;21784860;21832049;21988832;23602568;23940030 79155 D6RGJ2;Q8NFZ5 ABBA01029490;ABBA01029491;AF372839;AJ304866;AK026176;AK096296;AL110117;AL121750;AL137262;AMYH02008618;BC002740;BX386180;CB157550;CH471131;DA421921;NM_001161527;NM_001292016;NM_024309;XM_005248010 AAH02740;AAM21315;BAB15382;BAG53250;CAC34835;CAM28233;EAW82514;EAW82515;EAW82516;NP_001154999;NP_001278945;NP_077285;Q8NFZ5;XP_005248067 Hs.368551 1651969;2138340 SHGC-67741;SHGC-68050 ABIN2;DKFZp434J1313;FLIP1;KLIP;MGC4289 A20-binding inhibitor of NF-kappa-B activation 2;A20-binding inhibitor of NF-kappaB activation-2;OTTHUMP00000115298;OTTHUMP00000219012;OTTHUMP00000219013;TNFAIP3-interacting protein 2;fetal liver LKB1-interacting protein APPROVED protein-coding ENSG00000168884 HGNC:19118 18207 610669 VALIDATED 1346178 TNIK TRAF2 and NCK interacting kinase Germinal center kinases (GCKs), such as TNIK, are characterized by an N-terminal kinase domain and a C-terminal GCK domain that serves a regulatory function (Fu et al., 1999 [PubMed 10521462]).[supplied by OMIM, Mar 2008] 3 3 3 q26.31 169180163 169578027 - 170780292 171178197 - 171062503 171460408 - 1580863;6480464;6484113;8554872 10373574;10521462;11369779;12168954;12477932;15144186;15342639;15489334;17043677;17192257;17474147;18029348;18519826;18930710;19023125;19061864;19816403;20159449;20379614;20467438;21347282;21710359;21890473;21906983;22904686;23000965;23355318;9628581 23043 C9J338;C9JVV1;Q9UKE5 AB011123;AB017115;ABBA01058667;ABBA01058668;ABBA01058669;AC026315;AC078793;AC092919;AC137517;AF172264;AF172265;AF172266;AF172267;AF172268;AF172269;AF172270;AF172271;AK026470;AK291056;AMYH02008129;AMYH02008130;AMYH02008131;AMYH02008132;AW296249;BC018093;BC019081;BC055427;BC150256;CH471052;NM_001161560;NM_001161561;NM_001161562;NM_001161563;NM_001161564;NM_001161565;NM_001161566;NM_015028;NR_027767;XM_006713555 AAF03782;AAF03783;AAF03784;AAF03785;AAF03786;AAF03787;AAF03788;AAF03789;AAH19081;AAH55427;AAI50257;BAA25477;BAA76518;BAF83745;EAW78483;EAW78484;EAW78485;EAW78486;EAW78487;EAW78488;EAW78489;EAW78490;EAW78491;EAW78492;EAW78493;EAW78494;NP_001155032;NP_001155033;NP_001155034;NP_001155035;NP_001155036;NP_001155037;NP_001155038;NP_055843;Q9UKE5;XP_006713618 Hs.34024 1340885;1648580;1652646;1660246;1663572;1666742;1679385;1681674;1703646;1731831;1774286;1784136;1784844;1787554;2114863;2125662;2129027;2146665;2160323;2168674;2185233;2190471;5019713 A009J09;BQ207408;D3S1417;D3S3656;D3S4130;D3S4242;G32574;RH79966;RH80729;SGC34454;SHGC-154591;SHGC-155677;SHGC-155755;SHGC-77530;SHGC-77531;SHGC-77532;SHGC-77539;SHGC-77540;SHGC-82608;STS-AA017243;STS-H66149;WI-14651;WI-17179 OTTHUMP00000213889;OTTHUMP00000213891;OTTHUMP00000213892;OTTHUMP00000213893;OTTHUMP00000213894;OTTHUMP00000213895;OTTHUMP00000213896;OTTHUMP00000213897;TRAF2 and NCK-interacting protein kinase APPROVED protein-coding ENSG00000154310 HGNC:30765 18206 610005 VALIDATED 1319697 TNIP1 TNFAIP3 interacting protein 1 This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 5 5 5 q32-q33.1 146490845 146542340 - 150409504 150467221 - 151029943 151087660 - 1580863;6480464 10385526;11090181;11389905;12168954;12220502;12477932;12586352;12927788;12965196;14526201;14743216;15231748;15342556;15474016;15489334;16189514;16344560;16601202;16684768;16713569;16964243;17016622;17135485;17632516;18029035;18029348;18212736;18622428;18676680;19169254;19170196;19262574;19277210;19285159;19464428;19625176;19692168;19695220;19732752;19773279;19838193;19838195;20005846;20010814;20379614;20516000;20849588;21068098;21139048;21266526;21606507;21623003;21674837;21750679;21885437;21906983;21967852;21988832;22001530;22011580;22087647;22093807;22147607;22542476;22833143;22896740;23032186;23055271;23128233;23273568;23464785;23541940;23740937;23858047;23911423;23944604;23970121;7788527;8681136;9687515;9923610 10318 A8K4N4;B7Z8K2;E7EMV7;E7EW15;E7EW68;E7EWG2;H0YC17;Q15025 AB177543;AB177544;AB252970;AB252971;AB252972;AB252973;AB252974;AB252975;AB252976;AB252977;AB252978;AB252979;AB252980;AB252981;AB252982;ABBA01026268;AC008641;AJ011895;AJ011896;AK074400;AK290999;AK298685;AK299975;AK303573;AMYH02012464;AW589284;AW612566;AY012155;BC007666;BC012133;BC014008;BP254790;BX640647;CH471062;D30755;DA643531;DA752275;DA810872;DC374977;NG_030590;NM_001252385;NM_001252386;NM_001252390;NM_001252391;NM_001252392;NM_001252393;NM_001258454;NM_001258455;NM_001258456;NM_006058;U39403;U83844;XM_005268355;XM_006714751;XM_006714752 AAB41438;AAC99999;AAG42154;AAH12133;AAH14008;ABM84393;ABM87339;BAA06416;BAF34946;BAF34947;BAF48787;BAF48788;BAF48789;BAF48790;BAF48791;BAF48792;BAF48793;BAF48794;BAF48795;BAF48796;BAF48797;BAF48798;BAF48799;BAF83688;BAH12846;BAH13185;BAH13988;CAA09855;CAA09856;CAE45793;EAW61688;EAW61689;EAW61690;EAW61691;NP_001239314;NP_001239315;NP_001239319;NP_001239320;NP_001239321;NP_001239322;NP_001245383;NP_001245384;NP_001245385;NP_006049;Q15025;XP_005268412;XP_006714814;XP_006714815 Hs.355141;Hs.731557 1681542;1740505;2107693;2136208;2151091;2160895;2167926 D5S2296E;D5S2369;D5S2702;RH25338;STS-D30755;TNIP1__5109;WI-12122 ABIN-1;KIAA0113;NAF1;VAN;hVAN;nip40-1 A20-binding inhibitor of NF-kappa-B activation 1;HIV-1 Nef-interacting protein;Nef-associated factor 1 SNP;OTTHUMP00000224610;OTTHUMP00000224611;OTTHUMP00000224612;OTTHUMP00000224613;OTTHUMP00000224614;OTTHUMP00000224615;OTTHUMP00000224616;OTTHUMP00000224617;OTTHUMP00000224618;TNFAIP3-interacting protein 1;virion-associated nuclear shuttling protein;virion-associated nuclear-shuttling protein APPROVED protein-coding ENSG00000145901 HGNC:16903 09216 607714 REVIEWED 1346864 TNIP3 TNFAIP3 interacting protein 3 ENCODES a protein that exhibits polyubiquitin binding; INVOLVED IN cellular response to lipopolysaccharide; MyD88-independent toll-like receptor signaling pathway; negative regulation of I-kappaB kinase/NF-kappaB signaling; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH benzo[a]pyrene; silicon dioxide; potassium dichromate (ortholog) 4 4 4 q27 119438060 119523157 - 122052563 122148624 - 121131408 121227466 - 6480464;8554872 11345586;12477932;14702039;14743216;15342556;17088249;17485448;18081698;18212736;19464428;19617629;19913121;20379614;20628086;21139048;22093807;23383108 79931 H0Y9J7;Q96KP6 ABBA01044722;AC105254;AC108027;AF277289;AJ320534;AK024815;AK290409;AK301058;AK303192;AMYH02010006;AMYH02010007;BC128408;BP335455;CD367219;CH471056;DC389224;EF585496;NM_001128843;NM_001244764;NM_024873;XM_006714309 AAI28409;AAL02151;ABQ40006;BAB15018;BAF83098;BAG62667;BAG64285;CAC85929;EAX05263;EAX05264;EAX05265;NP_001122315;NP_001231693;NP_079149;Q96KP6;XP_006714372 Hs.208206 1752369;2121806;2182685 D4S2416;SHGC-106299;SHGC-67750 ABIN-3;FLJ21162;LIND A20-binding inhibitor of NF-kappa-B activation 3;ABIN-3 beta;Listeria induced;OTTHUMP00000163921;OTTHUMP00000219821;OTTHUMP00000220003;TNFAIP3-interacting protein 3;TNFAIP3-interacting protein 3 beta;TNIP3 beta;listeria-induced gene protein protein-coding ENSG00000050730 HGNC:19315 16268 608019 VALIDATED 1320828 TNK1 tyrosine kinase, non-receptor, 1 The protein encoded by this gene belongs to the tyrosine protein kinase family. Tyrosine protein kinases are important regulators of intracellular signal transduction pathways, mediating cellular proliferation, survival, and development. This gene is highly expressed in fetal tissues and at lower levels in few adult tissues, thus may function in signaling pathways utilized broadly during fetal development, and more selectively in adult tissues. It plays a negative regulatory role in the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, suggesting a role as a tumor suppressor gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 17 17 17 p13.1 7310277 7319007 + 7284293 7293093 + 7380974 7389774 + 1580863;6480464 10873601;12477932;15489334;15778465;16344560;17471239;18830724;18976975;20090780;20413850;20534741;20574532;21536687;21890473;21906983;22939624;24449862;8125298;8632913 8711 I3L334;Q13470;U3KPR9 ABBA01054862;AC113189;AF097738;AI810287;AK225403;AK310684;AK311063;AMYH02032899;BC035782;CH471108;DA089305;DB287365;NM_001251902;NM_003985;U43408 AAC50427;AAC99412;AAH35782;ABM82156;ABM85340;EAW90203;EAW90204;NP_001238831;NP_003976;Q13470 Hs.203420;Hs.739114 1678393;1681516;2117142 RH17416;RH79604;RH93312 MGC46193 CD38 negative kinase 1;non-receptor tyrosine-protein kinase TNK1 APPROVED protein-coding ENSG00000174292 HGNC:11940 09730 608076 REVIEWED 7241621 TNKS2-AS1 TNKS2 antisense RNA 1 (head to head) 10 10 q23.32 93542596 93558036 - 91782839 91798291 - 8889548 100507633 AA776692;ABBA01021925;AL359707;AMYH02023523;BM678746;NR_108070;NR_108071 Hs.291528 APPROVED ncrna ENSG00000228701 HGNC:45173 VALIDATED 1323786 TNKS1BP1 tankyrase 1 binding protein 1, 182kDa INVOLVED IN gene expression (inferred); mRNA metabolic process (inferred); nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN CCR4-NOT complex; INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; benzo[a]pyrene 11 11 11 q12.1 54426072 54451439 - 57067103 57092485 - 57299629 57325011 - 1580863;6480464;8554872 11214970;11854288;12080061;12168954;12477932;12693554;15302935;15345747;15652747;16244666;16964243;17081983;17452450;17617028;18377426;19542561;19558367;20360068;21139048;22113938;22586326;22863883;22939629;23000965;23383273;23602568;24778252;24816145 85456 E9PKE7;E9PKK0;Q9C0C2 AA614752;AB051528;ABBA01021468;AF441771;AK074113;AK124903;AK127871;AMYH02024840;AMYH02024841;AP000781;BC023622;BC046216;BC150333;CH471076;CT003184;NM_033396;XM_005274362;XM_006718725;XM_006718726 AAH23622;AAH46216;AAI50334;AAM15531;BAB21832;BAB84939;BAC85989;BAG54589;EAW73731;EAW73732;EAW73733;NP_203754;Q9C0C2;XP_005274419;XP_006718788;XP_006718789 Hs.530730 1665769;1672336;1678177;1742547;1769728;1777268;2129029;2177834;2218614;7185405 D11S4373;D11S446;GDB:197864;RH17745;RH47161;SHGC-30227;SSRP1;SSRP1_3468;WI-9146 FLJ45975;KIAA1741;TAB182 182 kDa tankyrase-1-binding protein;OTTHUMP00000234765;OTTHUMP00000234766;tankyrase 1-binding protein of 182 kDa protein-coding ENSG00000149115 HGNC:19081 06164 607104 VALIDATED 1312811 TNKS2 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 ENCODES a protein that exhibits enzyme binding; NAD+ ADP-ribosyltransferase activity; INVOLVED IN positive regulation of canonical Wnt signaling pathway; protein ADP-ribosylation; protein auto-ADP-ribosylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nuclear envelope; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; cyclosporin A 10 10 10 q23.3 87301773 87368904 + 93558151 93625232 + 91798394 91865475 + 1580863;6480464;8554872 10988299;11205898;11278563;11294570;11454873;11739745;11802774;11854288;12080061;14702039;15164054;15231748;15795250;16151859;16385451;18026951;18393764;19759537;19766477;20237496;20549820;20937264;21048031;21139048;21145461;21799911;21890473;21906983;21963094;22053931;22153076;22153077;22449978;24116873;24250222;24291818 80351 Q9H2K2 ABBA01021924;ABBA01021925;AF264912;AF305081;AF309033;AF329696;AF342982;AF438201;AK023746;AK314612;AL359707;AL833676;AMYH02023523;BQ019749;CH471066;NM_025235;XM_005270185 AAG25674;AAG44694;AAI48499;AAI56932;AAK13463;AAK25811;AAK82330;AAL40795;BAB14665;BAG37180;EAW50105;NP_079511;Q9H2K2;XP_005270242 Hs.329327 1646848;1649674;1664650;1683990;1687469;1847204;1855501;2154494;5123913;5126759 D10S2170;HSC0JF072;NIB351;R58932;RH45093;RH64715;RH68352;RH78232;SHGC-53837;WI-16054 ARTD6;PARP-5b;PARP-5c;PARP5B;PARP5C;TANK2;TNKL;TNKS-2;pART6 ADP-ribosyltransferase diphtheria toxin-like 6;OTTHUMP00000020090;TRF1-interacting ankyrin-related ADP-ribose polymerase 2;poly [ADP-ribose] polymerase 5B;tankyrase 2;tankyrase II;tankyrase-2;tankyrase-like protein;tankyrase-related protein protein-coding ENSG00000107854 HGNC:15677 06182 607128 VALIDATED 1343497 TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase ENCODES a protein that exhibits NAD+ ADP-ribosyltransferase activity; zinc ion binding; INVOLVED IN negative regulation of DNA binding; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; FOUND IN chromosome, telomeric region; Golgi apparatus; nuclear chromosome, telomeric region; INTERACTS WITH arsenite(3-); cobalt dichloride; copper(2+) sulfate 8 8 8 p23.1 8541508 8765562 + 9412756 9639856 + 9555251 9782346 + 1580863;6480464 10198177;10523501;10988299;11278563;11382755;11454873;11739745;11802774;11854288;12080061;12381316;12475993;12477932;12768206;14596906;14966275;15064417;15133513;15795250;16076287;16132700;16884355;17026964;17043677;17561506;18026951;18221737;18436240;18470924;18676680;19170196;19245366;19615732;19625176;19692168;19759176;19759537;19766477;19773453;19996280;20056641;20237496;20379614;20421936;20508983;20696165;20811636;20811689;20937264;21037379;21139048;21314979;21455637;21478859;21799911;21818122;21890473;21987572;22013039;22153076;22154485;22438990;22645305;22699936;22864114;22916037;23277359;23502783;23583392;23800953;23933993;24116873;24291818;24419084;24747911;8619474;9110174;9822378 8658 E5RHD2;E7EQ52;E7EWY6;H0YAW5;O95271 AB209339;ABBA01026898;ABBA01026899;ABBA01026900;ABBA01026901;AC021242;AC103834;AC103877;AC104052;AF070613;AF082556;AF082557;AF082558;AF082559;AK301798;AK302031;AK302534;AL706619;AMYH02017410;AMYH02017411;AMYH02017412;AMYH02017413;AMYH02017414;AMYH02017415;AMYH02017416;AMYH02017417;AMYH02017418;AMYH02017419;BC023578;BC098394;CH471157;NM_003747;XM_006716263 AAC79841;AAC79842;AAC79843;AAC79844;AAH98394;BAD92576;BAG63250;BAG63428;BAG63806;EAW65579;EAW65580;NP_003738;O95271;XP_006716326 Hs.370267 1651558;1651560;1671611;1695282;1699568;1701280;1713159;1775462;1786578;2117272;2122074;2147913;2148208;5014051;5016179;5037552 A005X23;D8S2278;D8S2279;G20573;G59681;HSC2QE062;RH103385;RH104269;RH11883;RH120367;RH18302;RH44938;SHGC-132382;SHGC-24414;SHGC-63000;UniSTS:45338 ARTD5;PARP-5a;PARP5A;PARPL;TANK1;TIN1;TINF1;TNKS-1;TNKS1;pART5 ADP-ribosyltransferase diphtheria toxin-like 5;OTTHUMP00000115550;OTTHUMP00000224675;TRF1-interacting ankyrin-related ADP-ribose polymerase;poly [ADP-ribose] polymerase 5A;tankyrase I;tankyrase-1 protein-coding ENSG00000173273 HGNC:11941 04490 603303 VALIDATED 1346409 TNK2 tyrosine kinase, non-receptor, 2 This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008] 3 3 3 q29 194132138 194176550 - 195590235 195635880 - 195863365 195909009 - 1580863;6480464;8554872 10360579;10587647;10652228;10684602;10802735;10882715;11087735;11157984;11278436;11394904;11700021;11799118;12477932;12522270;14506255;14733946;15123659;15146197;15175157;15308621;15489334;15592455;15951569;15964811;16137687;16169070;16247015;16257963;16288044;16316319;16472662;16777958;17038317;17081983;17109515;17182860;17494760;18262180;18271526;18435854;18477472;18993068;19144635;19167335;19798056;19815557;19946888;20086093;20110370;20333297;20359967;20432460;20936779;21129804;21139048;21309750;21418896;21963094;21988832;22322295;22553920;22566699;22586264;22939624;22952966;23000965;23208506;23402884;23598414;23686771;23729439;23897914;24085293;24178904;24413169;24461128;25015289;8125298;8497321;8647288 10188 B3KXJ4;C9J1X3;C9JDG3;C9JIR5;F8WER3;H0Y5H7;H7BZM8;H7BZZ3;H7C343;H7C412;Q07912 AB209338;ABBA01018427;ABBA01018428;AC124944;AC245434;AK024904;AK126712;AK127455;AK131539;AK225786;AK309332;AMYH02008475;AMYH02008476;BC008884;BC020389;BC028164;BE676668;BG742978;CH471280;CN411136;L13738;NG_029779;NM_001010938;NM_005781;XM_005269268;XM_005269269;XM_005269270;XM_005269271;XM_005269272;XM_005269273;XM_005269274;XM_005269275;XM_006713460;XM_006713461;XM_006713462;XM_006713463;XM_006713464;XM_006713465;XM_006713466;XM_006713467;XM_006713468 AAA53570;AAH08884;AAH28164;AAI56799;BAD18675;BAD92575;BAG54506;EAW50333;EAW50334;EAW50335;EAW50336;EAW50337;NP_001010938;NP_005772;Q07912;XP_005269325;XP_005269326;XP_005269327;XP_005269328;XP_005269329;XP_005269330;XP_005269331;XP_005269332;XP_006713523;XP_006713524;XP_006713525;XP_006713526;XP_006713527;XP_006713528;XP_006713529;XP_006713530;XP_006713531 Hs.518513 1771937;5015861;5021712;5037552;5037554;5115846;7185938 D10S16;D8S2279;D8S2282;STS-R44803;ksks336;ksks337 ACK;ACK-1;ACK1;FLJ44758;FLJ45547;p21cdc42Hs OTTHUMP00000208563;OTTHUMP00000208564;OTTHUMP00000208565;OTTHUMP00000208566;activated CDC42 kinase 1;activated Cdc42-associated kinase 1;activated p21cdc42Hs kinase;tyrosine kinase non-receptor protein 2 APPROVED protein-coding ENSG00000061938 HGNC:19297 06104 606994 REVIEWED 731806 TNMD tenomodulin This gene encodes a protein that is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial cells. This protein is also an angiogenesis inhibitor. Genetic variation in this gene is associated with a risk for type 2 diabetes, central obesity and serum levels of systemic immune mediators in a body size-dependent manner. This gene is also a candidate gene for age-related macular degeneration, though a direct link has yet to be demonstrated. [provided by RefSeq, Sep 2009] X X X q21.33-q23 100358526 100373618 + 99839790 99855007 + 100584793 100600008 + 1580863;6480464 11162640;11162673;11357195;12477932;12975309;15150318;15342556;15772651;15950187;16019413;17495183;17627542;18580688;18838562;18982016;19381347;19524323;19602561;22700804;23593173 64102 Q9H2S6 AB055421;ABBA01064153;AF191770;AF234259;AF291656;AL035608;AMYH02040056;AY358706;BC034030;BP319044;CH471115;KF459255;NG_013266;NM_022144;XM_005262175;XM_005262176 AAG28395;AAG49144;AAK83109;AAQ89069;BAB21756;EAX02806;EAX02807;EAX02808;NP_071427;Q9H2S6;XP_005262232;XP_005262233 Hs.132957 1649801;2120847 DXS7679;DXS7735 BRICD4;CHM1-LIKE;CHM1L;TEM;hChM1L;hTeM BRICHOS domain containing 4;OTTHUMP00000023651;chondromodulin I-like;chondromodulin-1-like protein;chondromodulin-I-like protein;chondromodulin-IB;myodulin;tendin APPROVED protein-coding ENSG00000000005 HGNC:17757 02352 300459 REVIEWED 1314366 TNN tenascin N ENCODES a protein that exhibits identical protein binding (inferred); integrin binding (inferred); INVOLVED IN cell growth (ortholog); cell migration (ortholog); PARTICIPATES IN cell-extracellular matrix signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell surface (inferred); proteinaceous extracellular matrix (inferred); INTERACTS WITH calcitriol; ethyl methanesulfonate; formaldehyde 1 1 1 q23-q24 148146650 148227500 + 175036994 175117202 + 175067858 175148066 + 1580863;6480464;6907045;8554872 12477932;12812753;15592496;16335952;16710414;17909022;18306355;22939629;9817758 63923 B3KXB6;Q9UQP3 ABBA01027873;AK127044;AK127654;AL049689;AMYH02002179;AMYH02002180;AMYH02002181;AMYH02002182;BC136619;BC144305;CH471067;NM_022093;Z99297;Z99715 AAI36620;AAI44306;BAG54428;CAB41260;EAW90986;NP_071376;Q9UQP3 Hs.156369 1692134;1715705 AL034020;RH119299 TN-N;TN-W OTTHUMP00000032807;tenascin-N protein-coding ENSG00000120332 HGNC:22942 VALIDATED 1323707 TNNC2 troponin C type 2 (fast) Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008] 20 20 20 q12-q13.11 41162347 41166448 - 44451853 44455953 - 45823214 45827314 - 1580863;6480464;7204682 17964289 11780052;12477932;15489334;17194691;1907279;19460752;19913121;20628086;2373703;3166492;7869399;9016781;9459007;9560191;978749 7125 C9J7T9;P02585 ABBA01052667;AI080746;AK291323;AK300665;AL050348;AMYH02037154;BC005323;BU854061;CH471077;CR541864;CR541884;M22307;M33772;NM_003279;X07898 AAA61197;AAA91854;AAH05323;ADZ15796;BAF84012;BAG62351;CAA30737;CAG46662;CAG46682;EAW75802;EAW75803;NP_003270;P02585 Hs.182421 1658593;1667530;1791750;1792330;1792534;5110878 PMC123151P1;PMC140912P1;PMC153210P1;RH41789;RH71437;STS-M33772 OTTHUMP00000039530;OTTHUMP00000039531;troponin C, skeletal muscle;troponin C2, fast APPROVED protein-coding ENSG00000101470 HGNC:11944 08929 191039 REVIEWED 1344978 TNNI2 troponin I type 2 (skeletal, fast) This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] 11 11 11 p15.5 1897991 1900668 + 1860233 1862910 + 1839003 1841680 + 1599481;1580863;6480464;7240710;8554872;8699517 12592607 10077564;10721725;10737800;11470454;12097349;12477932;12809519;15231747;15289369;15342556;15489334;15604093;15967462;16802141;16924011;17194691;17393089;18157088;18331830;18548613;18805052;19913121;20628086;22519952;23128233;2365354;23850728;23936387;6847627;7103951;7118902;8148383;8681137;8987992;9016781;9448267;9560191;9724539 7136 P48788 ABBA01012161;AC051649;AJ245761;AMYH02024178;AW984315;BC032148;BI833431;BP233165;BQ926240;CH471158;F36243;L21715;NG_011621;NM_001145829;NM_001145841;NM_003282 AAA19813;AAH32148;ABM82908;ABM86098;CAB59981;EAX02467;EAX02468;EAX02469;NP_001139301;NP_001139313;NP_003273;P48788 Hs.523403 1792718;1803134;1803318;1803882;1807612;1816218;2089316;2089318;2089320;2089322;2089324;2089326;2089328;2089330;2089332;2089334;2089336;2089338;2089340;2089342;2089344;2089346;2089348 ECD02458;ECD02555;ECD02854;ECD04778;ECD09150;PMC15822P2;REN115920;REN115921;REN115922;REN115923;REN115924;REN115925;REN115926;REN115927;REN115928;REN115929;REN115930;REN115931;REN115932;REN115933;REN115934;REN115935;REN115936 AMCD2B;DA2B;FSSV;fsTnI OTTHUMP00000014141;OTTHUMP00000014142;OTTHUMP00000014143;fast-twitch skeletal muscle troponin I;troponin I fast twitch 2;troponin I, fast skeletal muscle;troponin I, fast-twitch isoform;troponin I, fast-twitch skeletal muscle isoform;troponin I, skeletal, fast APPROVED protein-coding ENSG00000130598 HGNC:11946 01843 191043;601680 REVIEWED 1320524 TNNC1 troponin C type 1 (slow) Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008] 3 3 3 p21.1 52464352 52467302 - 52485107 52488057 - 52451091 52454041 - 1580739;6480464;6907045;7204682;7240710;8554872;8699517 11385718;17964289 10806205;10850966;11735257;11904166;12044157;12060657;12093807;12122471;12477932;12732641;12840750;12939162;15049709;15134451;15147183;15489334;15524171;15542288;15601779;15628883;15808858;16157639;16157641;16302972;17021793;17446435;17693547;17977476;18032382;18042489;18063575;18092822;18572189;18803402;18820258;1907279;19439414;19492165;19542563;19808376;19920153;20031618;20128626;20215591;20301486;20301725;20371872;20378771;20459070;20566645;20889975;21056975;21139048;21832052;21926972;21988832;22329450;22489623;2250022;22591429;22675533;22815480;23000965;23066014;23111626;23554884;23633581;23974872;24490734;2455687;24650606;3166492;3951483;7103951;7957210;8205619;8987992;8995486;9219516;9315850;9346285;9448267;9560191 7134 C9JDI3;P63316;Q6FH91 ABBA01024508;AC006208;AF020769;AJ574625;AK313743;AMYH02006802;BC030244;CH471055;CR541865;CR541885;GU324920;M37984;NG_008963;NG_033112;NM_003280;X07897 AAA36772;AAB91994;AAH30244;ABM81952;ABM85132;ADL14491;BAG36483;CAA30736;CAG46663;CAG46683;EAW65226;EAW65227;NP_003271;P63316 Hs.118845 1774379;2120937;2157906;5491657 MARC_5631-5632:996690526:1;RH79154;SGC35451;STS-M37984 CMD1Z;CMH13;TN-C;TNC;TNNC OTTHUMP00000213108;cardiac troponin C;slow twitch skeletal/cardiac muscle troponin C;troponin C, slow skeletal and cardiac muscles;troponin C1, slow;troponin c, slow APPROVED protein-coding ENSG00000114854 HGNC:11943 08930 191040;611879;613243 REVIEWED 1345235 TNNI3K TNNI3 interacting kinase This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012] 1 1 1 p31.1 72909510 73255421 + 74701071 75010116 + 74235387 74544432 + 1302422;6480464;8554872 12721663 11329013;12477932;15489334;15815621;17660584;18029348;18205602;18552163;19359327;19913121;19925440;20569525;20628086;20808825;20935630;21314842;22939624;23085512;23449627;23563607;23669352 51086 H0YCE9;H0YDG1;H0YE48;Q59H18 AA758546;ABBA01074425;ABBA01074426;ABBA01074427;ABBA01074428;AC093158;AC098692;AC105271;AC119672;AF116826;AK307984;AMYH02001267;AMYH02001268;AMYH02001269;AMYH02001270;AMYH02001271;AMYH02001272;AMYH02001273;AMYH02001274;AY303691;BC113539;BC117262;BG187210;BX470253;BX502807;CH471059;DQ822519;NG_032939;NM_015978 AAD29632;AAI13540;AAI17263;AAP72030;ABG46944;ADR83282;EAX06415;NP_057062;Q59H18 Hs.480085 1643762;1646283;1647163;1668748;1679768;1691990;1695982;1698188;1711004;1735972;1774221;1789144;2109319;2126349;2171305;2174287 A005C44;AL009456;AL009475;AL009884;AL033647;D1S1962E;D1S3377;FPGT_8857;G65707;RH102630;RH12316;RH92878;SGC38103;SHGC-31192;SHGC-82732;SHGC-84880 CARK;MGC142099;MGC33828 OTTHUMP00000011169;OTTHUMP00000011170;OTTHUMP00000011185;OTTHUMP00000232461;TNNI3-interacting kinase;cardiac ankyrin repeat kinase;cardiac troponin I-interacting kinase;serine/threonine-protein kinase TNNI3K APPROVED protein-coding ENSG00000116783 HGNC:19661 18208 613932 REVIEWED 732918 TNNI1 troponin I type 1 (skeletal, slow) Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. [provided by RefSeq, Jul 2008] 1 1 1 q31.3 174496762 174514748 - 201372895 201390874 - 201403767 201421746 - 1580863;6480464 11076863;11230166;12044157;12477932;12809519;12815045;12857748;14702039;15289369;15367881;15489334;15489336;15542288;15604093;16005017;16189514;16236952;16338262;16358990;16381901;16916777;17051347;17099250;18092822;18157088;19240029;1934363;1959627;19811558;20817590;21988832;22323298;22374183;2341402;2365354;8125298;8144655;8987992;9016781;9724539 7135 G3V3L5;G3V489;G3V4F8;P19237 ABBA01027533;AC096677;AJ315823;AK123965;AK223588;AK311896;AL831820;AL831975;AL832006;AMYH02002477;BC012600;BC012601;BI825503;BX510903;CH471067;CR450301;CR541996;CR542030;J04760;L21910;NG_016649;NM_003281 AAA61228;AAC14461;AAH12600;AAH12601;ABM83744;ABM87063;BAD97308;BAG34837;BAG53988;CAC44240;CAD38534;CAD91135;CAG29297;CAG46793;CAG46827;CAH56221;CAL37688;EAW91365;EAW91366;EAW91367;EAW91368;NP_003272;P19237 Hs.320890 1341477;1650594;2142853;2148131;2161464;2187057;2218104;5015961;5491868 D15S1477;D1S1723;D1S2034E;RH41799;RH64709;SHGC-52392;SHGC-76130;TNNI1;TNNI1_3874 DKFZp451O223;SSTNI;TNN1 OTTHUMP00000033877;OTTHUMP00000033909;OTTHUMP00000033910;OTTHUMP00000245091;OTTHUMP00000245093;troponin I, slow skeletal muscle;troponin I, slow-twitch isoform;troponin i, slow isoform APPROVED protein-coding ENSG00000159173 HGNC:11945 01842 191042 REVIEWED 733051 TNNT1 troponin T type 1 (skeletal, slow) This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 52683099 52701800 - 55644161 55660752 - 55132793 55149332 - 737736;1580863;6480464;7240710;8554872;8699517 10952871 10191089;10451243;10529204;10601315;11904166;12477932;1473264;1505979;15489334;15495263;1551677;15665378;15761153;15967462;16169070;16189514;1706783;18032382;18579801;19326042;19541721;19690080;19913121;19916752;20038417;20301465;20380359;20628086;20889975;21111984;21139048;21448949;21683708;21729325;21784424;21900206;22239123;22448368;22977240;23244308;24020864;2687327;2824479;3611073;6822572;8135831;8403232;8681137;8987992;9448267;9724539 7138 F5H1H4;K7EKB5;K7EKM3;K7ELB0;K7EQL4;M0QX01;M0QY38;M0QZU8;M0QZY5;P13805;Q3B759 ABBA01068121;ABBA01068122;ABBA01068123;ABBA01068124;ABBA01068125;ABBA01068126;AC010327;AJ011712;AJ011713;AK291352;AK308199;AMYH02036452;AMYH02036453;AY762903;AY762904;BC007074;BC010963;BC022086;BC034143;BC107798;BT019630;CH471135;DC385627;DC385695;F20363;F34258;KF459706;M19308;M19309;NG_011829;NM_001126132;NM_001126133;NM_001291774;NM_003283;S51938;S66057;S69208;S69209;XM_006723343;XM_006723344 AAA61204;AAA61205;AAB30272;AAB30273;AAD13978;AAH07074;AAH10963;AAH22086;AAH34143;AAI07799;AAV38436;AAX07831;AAX07832;BAF84041;CAA09750;CAA09751;CAA09752;EAW72336;EAW72337;EAW72338;EAW72339;NP_001119604;NP_001119605;NP_001278703;NP_003274;P13805;XP_006723406;XP_006723407 Hs.631558 1741523;5017370;5120199 GDB:181281;GDB:204197;RH71430 ANM;FLJ98147;MGC104241;NEM5;STNT;TNT;TNTS nemaline myopathy type 5;slow skeletal muscle troponin T;troponin T, slow skeletal muscle;troponin t1, skeletal, slow;troponin-T1, skeletal, slow APPROVED protein-coding ENSG00000105048 HGNC:11948 01841 191041;605355 REVIEWED 733923 TNP1 transition protein 1 (during histone to protamine replacement) Transition protein-1 is a spermatid-specific product of the haploid genome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[supplied by OMIM, Mar 2008] 2 2 2 q35-q36 211492069 211492670 - 217724181 217724782 - 216859458 216860059 - 1580863;6480464 10781074;11315969;12477932;12743712;15489334;16291974;16989827;17207965;17852044;18292840;18727729;20378615;2040274;20522125;20524034;21931568;21967852;2249851;2250010;3382664;3412903;8019440;9809674;9837753 7141 P09430;Q4ZG82 AB281700;ABBA01062825;AC007557;AMYH02005769;BC029516;CH471063;HC007346;HC044587;M59924;NM_003284;X07948 AAA61202;AAH29516;AAX88913;ADQ32665;BAF36709;CAA30774;CBH19478;CBH30623;EAW70577;NP_003275;P09430 Hs.3017 1741931;2138137 D2S2720;GDB:186871 STP-1;TP-1;TP1 OTTHUMP00000164059;spermatid nuclear transition protein 1;transition protein 1 APPROVED protein-coding ENSG00000118245 HGNC:11951 01830 190231 VALIDATED 7241102 TNPO1P1 transportin 1 pseudogene 1 10 10 10 80145427 80146739 + 86150490 86151802 + 84390734 84392046 + 100418919 ABBA01003755;AC074321;AMYH02023452;NG_025528 1850995 SGC34764 pseudo HGNC:45120 INFERRED 732398 TNNT2 troponin T type 2 (cardiac) The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008] 1 1 1 q32 174451992 174470656 - 201328136 201346836 - 201359008 201377760 - 1559062;1580232;1580434;1580439;1580440;1580441;1580442;6480464;6907045;7240710;8554872;8699517 10946062;11684629;12881443;15226628;15950076;16651346;7898523 10405326;10451243;10525521;10529204;10610467;10850966;10978365;11034944;11106718;11262409;11857753;11904166;11931771;12084606;12087140;12093807;12186860;12206807;12473556;12477932;12707239;12732643;12760310;12819028;12832403;12840750;12923187;12974739;14636924;14702039;14722098;14736877;14986170;15387941;15524170;15524172;15542288;15563892;15568820;15604421;15673967;15759546;15769782;15923195;16115869;16199542;16338248;16716613;16754800;16776629;16789403;16882671;17101185;17207965;17289431;17512511;17612745;17672918;17848144;17891611;18029407;18032382;18032444;18037101;18063145;18065785;18174208;18322550;18403758;18460953;18506004;18513529;18645057;18651846;18719346;18780659;18785956;19016149;19035361;19061534;19149795;19150014;19253838;19275886;19293840;19324435;19330751;19356187;19359536;19359810;19412328;19454539;19459818;19615100;19666196;19736474;19808368;19833747;19853701;19875404;19880069;19887861;19913121;19920153;20031601;20031618;20031650;20035047;20038417;20083571;20093942;20101793;20201937;20299689;20301486;20301725;20359594;20378771;20414521;20472389;20474083;20512449;20624503;20628086;20661138;20677290;20800588;20805692;20884259;20975235;21056973;21276572;21422391;21448080;21502316;21565741;21574239;21632491;21639091;21779191;21792561;21807382;21832049;21864916;22017532;22078394;22144547;22264874;22277685;22326514;22334656;22341670;22396190;22507551;22525447;22545649;22558116;22579624;22623715;22675533;22681487;22685114;22685586;22694299;22713569;22734916;22808179;22822013;22914904;22982904;23021597;23063209;23084110;23114876;23117016;23141854;23184341;23228375;23241414;23247143;23274882;23315610;23328564;23355808;23393062;23395473;23404916;23455924;23469039;23471272;23494605;23586019;23604180;23628072;23667500;23684676;23688568;23702074;23711451;23711808;23782526;23788194;23788249;23803255;23846679;24015599;24036936;24037902;24093860;24148285;24157232;24204736;24260184;24333560;24375759;24418317;24480310;24490734;2530435;2584239;3581171;6205765;6746613;7498159;7534662;7895342;7981753;8088824;8205619;8344420;8521556;8576938;8798526;8989109;9060892;9140840;9219516;9482583;9560191;9689598;9714088 7139 C9JDF8;C9JM61;E7EPN8;E7EPW4;F8W748;F8W9V2;F8WAF6;J3KQN2;P45379;Q15607 AA865519;ABBA01027534;AC119427;AF004415;AF004422;AJ709280;AK055533;AK125236;AK290621;AK309493;AL832707;AMYH02002477;AY044273;AY160216;AY277394;BC002653;CH471067;EF179183;L40162;NG_007556;NM_000364;NM_001001430;NM_001001431;NM_001001432;NM_001276345;NM_001276346;NM_001276347;S64668;S71126;S71128;X74819;X79855;X79856;X79858;X79859;X79861;X83743;X83744;XM_006711508;XM_006711509;XM_006711510;XM_006711511;XM_006711512;XM_006711513;XM_006711514;Y09626;Y09627;Y09628 AAA67422;AAB27731;AAB30956;AAB30957;AAC39590;AAH02653;AAK92231;AAN71651;AAP96757;ABN05286;ADQ31899;BAF83310;CAA52818;CAA56235;CAA56236;CAA56238;CAA56239;CAA56240;CAA70839;CAA70840;CAA70841;EAW91353;EAW91354;EAW91355;EAW91356;EAW91357;EAW91358;EAW91359;EAW91360;EAW91361;EAW91362;NP_000355;NP_001001430;NP_001001431;NP_001001432;NP_001263274;NP_001263275;NP_001263276;P45379;XP_006711571;XP_006711572;XP_006711573;XP_006711574;XP_006711575;XP_006711576;XP_006711577 Hs.533613 1856871;5015961;5037552;5117078 D15S1477;D1S2419;D8S2279;GDB:435263 CMD1D;CMH2;CMPD2;LVNC6;MGC3889;RCM3;TnTC;cTnT OTTHUMP00000033864;OTTHUMP00000033865;OTTHUMP00000033866;OTTHUMP00000033867;OTTHUMP00000033870;OTTHUMP00000218095;cardiac muscle troponin T;cardiomyopathy, dilated 1D (autosomal dominant);cardiomyopathy, hypertrophic 2;troponin T, cardiac muscle;troponin T2, cardiac;troponin t2 APPROVED protein-coding ENSG00000118194 HGNC:11949 01844 115195;191045;601494;612422 REVIEWED 737137 TNNT3 troponin T type 3 (skeletal, fast) The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009] 11 11 11 p15.5 11177 30313 + 1940799 1959936 + 1919562 1938706 + 1599490;1580863;6480464;7240710;8554872;8699517 12865991 12477932;12761854;14702039;15489334;15507453;15604093;15967462;16081096;16169070;16344560;17194691;18629027;19142688;19326042;19913121;20066428;20453838;20628086;20634891;21402185;21900206;23936387;7118902;8062920;8172653;8681137;8838323;8987992;9012416;9508073;9724539 7140 C9JCA5;C9JZN9;F8WA37;H9KVA2;P45378 ABBA01012164;ABBA01012165;AC051649;AF026276;AI161366;AJ571879;AK056968;AMYH02024182;AX399965;AX399967;BC022275;BC050446;BC062430;BC117327;BC143537;BC171727;BC171728;BT019997;BX640689;CH471316;CR541927;DA897990;DA899275;DQ778624;F26088;KF455299;M21984;NG_013085;NM_001042780;NM_001042781;NM_001042782;NM_001297646;NM_006757;U14641;U14642;U14643;U14644;XM_006718288;XM_006718289;XM_006718290;XM_006718291;XM_006718292;XM_006718293;XM_006718294;XM_006718295;XM_006718296;XM_006718297;XM_006718298;XM_006718299;XM_006718300;XM_006718301;XM_006718302 AAA36777;AAA50359;AAA50360;AAA50361;AAA50362;AAF21629;AAH50446;AAH62430;AAI17328;AAI43538;AAI71727;AAV38800;ABG77458;ADR82881;BAG51835;CAD33409;CAD33411;CAE45814;CAG46725;EAW50569;NP_001036245;NP_001036246;NP_001036247;NP_001284575;NP_006748;P45378;XP_006718351;XP_006718352;XP_006718353;XP_006718354;XP_006718355;XP_006718356;XP_006718357;XP_006718358;XP_006718359;XP_006718360;XP_006718361;XP_006718362;XP_006718363;XP_006718364;XP_006718365 Hs.73454 1798976;1799216;1800100;1800618;1800620;1801262;1801320;1801716;1801924;1801926;1802032;1802140;1802142;1802728;1803068;1803832;1804288;1805538;1808520;1826692;1828886;1845098;2089864;2089866;2089868;2089870;2089872;2089874;2089876;2089878;2089880;2089882;2089884;2089886;2089888;2089890;2089892;2089894;2089896;2089898;2089900;2089902;2089904;2089906;2089908;2089910;2089912;2089914;2089916;2089918;2089920;2089922;2089924;2089926;2089928;2089930;2089932;2089934;2089936;2089938;2089940;2089942;2089944;2089946;2089948;2089950;2089952;2089954;2089956;2089958;2089960;2089962;2089964;2089966;2089968;2089970;2089972;2089974;2089976;2089978;2089980;2089982;2089984;2089986;2089988;2089990;2089992;2089994;2089996;2089998;2090000;2090002;2090004;2090006;2090008;2090010;2090012;2090014;2090016;2090018;2090020;2090022;2090024;2090026;2090028;2090030;2216518;2216520;2216522;2216524;2216526;2216528;2216530;2216532;2216534;2216536;2216538;5016466;7185697 D11S922;ECD00331;ECD00456;ECD00906;ECD01170;ECD01171;ECD01503;ECD01532;ECD01738;ECD01843;ECD01844;ECD01897;ECD01952;ECD01953;ECD02251;ECD02425;ECD02827;ECD03068;ECD03717;ECD05242;ECD14460;ECD15570;ECD23766;GDB:385948;REN116205;REN116206;REN116207;REN116208;REN116209;REN116210;REN116211;REN116212;REN116213;REN116214;REN116215;REN116216;REN116217;REN116218;REN116219;REN116220;REN116221;REN116222;REN116223;REN116224;REN116225;REN116226;REN116227;REN116228;REN116229;REN116230;REN116231;REN116232;REN116233;REN116234;REN116235;REN116236;REN116237;REN116238;REN116239;REN116240;REN116241;REN116242;REN116243;REN116244;REN116245;REN116246;REN116247;REN116248;REN116249;REN116250;REN116251;REN116252;REN116253;REN116254;REN116255;REN116256;REN116257;REN116258;REN116259;REN116260;REN116261;REN116262;REN116263;REN116264;REN116265;REN116266;REN116267;REN116268;REN116269;REN116270;REN116271;REN116272;REN116273;REN116274;REN116275;REN116276;REN116277;REN116278;REN116279;REN116280;REN116281;REN116282;REN116283;REN116284;REN116285;REN116286;REN116287;REN116288;stSG548566;stSG548568;stSG548569;stSG548570;stSG548571;stSG548572;stSG548573;stSG548574;stSG548576;stSG548577;stSG548578 AMCD2B;DA2B;DKFZp779M2348;FSSV;TNTF;beta TnTF;beta-TnTF;fTnT OTTHUMP00000014432;OTTHUMP00000014433;OTTHUMP00000014434;OTTHUMP00000014435;OTTHUMP00000014437;OTTHUMP00000014438;OTTHUMP00000069617;OTTHUMP00000069618;OTTHUMP00000069619;OTTHUMP00000194823;OTTHUMP00000194824;fast skeletal muscle troponin T;troponin T, fast skeletal muscle;troponin t3;troponin-T3, skeletal, fast APPROVED protein-coding ENSG00000130595 HGNC:11950 02822 600692;601680 REVIEWED 7240968 TNPO1P2 transportin 1 pseudogene 2 17 17 17 p11.2 20487334 20490334 + 18363646 18366646 + 18460332 18463332 + 252968 AC107983;AL353997;AMYH02033116;NG_001592 pseudo HGNC:45121 INFERRED 8662053 TNPO1P3 transportin 1 pseudogene 3 17 17 17 p11.2 20487384 20490333 + 20384373 20387325 - 20481060 20484012 - 11997339 339257 ABBA01196281;AC015818;AMYH02033186;NG_002721 pseudo HGNC:50718 INFERRED 1344192 TNF tumor necrosis factor This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, and cancer. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33141565 33144327 + 31543344 31546113 + 31575567 31578336 + 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7124 P01375;Q5STB3 AB088112;AB103618;AB202113;AB451492;ABBA01038081;AF043342;AF098751;AF129756;AJ227911;AJ249755;AJ251878;AJ251879;AJ270944;AK314960;AL662801;AL662847;AL929587;AMYH02013452;AY066019;AY214167;AY799806;BA000025;BC028148;BI908079;BP215875;BX248519;BX927320;CA306559;CH471081;CR753892;CR759886;CR942185;CS081473;FJ795028;HQ201306;M10988;M16441;M26331;NG_007462;NM_000594;X01394;X02910;Y14768;Z15026 AAA36758;AAA61198;AAA61200;AAC03542;AAC42098;AAD18091;AAF71992;AAH28148;AAL47581;AAO21132;AAV63951;ABM82588;ABM85775;ACO37640;ADV31546;BAB63396;BAC54944;BAE78639;BAF31279;BAG37464;BAG70306;CAA25650;CAA26669;CAA75070;CAA78745;CAB63904;CAB63905;CAB65595;CAI95946;EAX03424;NP_000585;P01375 Hs.241570 1694938;1741569;1742345;1791368;1791902;1792382;1792384;1792426;1792532;1792832;1792834;1793270;1795084;1796260;1796988;2113844;2116491;2124589;2165242;5117839;5117841 D6S2056;G44361;GDB:181538;GDB:196368;GDB:624603;GDB:624619;LTA_189;PMC108024P2;PMC130126P1;PMC150514P1;PMC150514P2;PMC150895P1;PMC153054P1;PMC165077P1;PMC165077P2;PMC20345P1;PMC97302P1;RH17367;STS-X01394;TNF;TNF_429 DIF;TNF-a;TNF-alpha;TNFA;TNFSF2 APC1 protein;OTTHUMP00000029281;TNF superfamily, member 2;TNF, macrophage-derived;TNF, monocyte-derived;cachectin;tumor necrosis factor alpha;tumor necrosis factor ligand superfamily member 2;tumor necrosis factor-alpha 1643377;1643399;2289164 BMD5_H;BW111_H;BW325_H APPROVED protein-coding ENSG00000232810 HGNC:11892 01855 157300;191160;600807;611162 REVIEWED 737204 TNNI3 troponin I type 3 (cardiac) Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). [provided by RefSeq, Jul 2008] 19 19 19 q13.4 52704329 52710294 - 55663135 55669100 - 55151767 55157732 - 1580419;1580420;1580421;1580422;1580863;6480464;6907045;7240710;8554872;8699517 15070570;15604421;15698845;16288990 10191089;10387074;10806205;10850966;11121119;11596911;11735257;11801593;11815426;11853553;11904166;11984006;12044157;12060657;12093807;12122471;12151382;12242268;12270775;12383268;12477932;12525172;12531876;12626203;12707239;12721663;12732641;12803836;12809519;12826210;12840750;12939162;12967628;12974739;14551240;14575308;14596793;14661957;15049709;15134451;15147183;15257080;15350489;15367881;15542288;15601779;15607392;15718266;15867176;15961398;16157639;16199542;16236952;16302972;16338248;16338262;16358990;16516408;16754800;16765375;16887211;16916777;17101185;17140583;17303066;17574519;17587709;17594788;17710247;18032382;18042489;18042776;18064406;18092822;18094010;18157088;18175163;18381864;18403758;18430738;18445579;18513529;18569954;18571749;18682663;18760145;18810980;18835219;18976355;18986304;19003742;19008306;19016149;19035361;19090253;19145004;19149795;19150014;19221927;19293840;19299763;19321456;1934363;19372185;19387251;19426736;19455094;19463339;19523464;19568166;19571537;19580729;19590045;1959915;19651143;19696481;19797054;19833747;19853701;19875404;19920153;19925440;20008898;20025646;20030529;20031618;20035081;20043329;20079546;20086309;20140242;20188720;20215591;20301486;20301725;20358260;20359594;20378771;20474083;20523292;20555264;20588136;20624503;20800588;20817590;20889975;20923987;20924643;20975235;21184543;21214502;21304210;21456469;21549291;21574239;21730823;21757825;21777381;21993227;22029801;22052454;22072229;22119115;2226790;2226863;22353438;22449338;22456184;22465126;22491666;22493448;22500757;22560907;22633670;22675533;22704287;22761714;22876777;22982904;23144315;23163407;23184341;23220502;23238359;23247055;23270746;23274622;23326389;23329791;23393062;23396754;23397594;23398826;23410486;23469039;23539503;23552626;23604180;23660299;23782526;23788249;23829708;23886525;23967088;24063930;24101702;24206774;24226808;24291281;24315342;24383069;24418317;24489430;24490734;24660542;24794782;2584239;7957210;8125298;8406024;8661099;8798526;9219516;9241277;9346285;9560191;9605869 7137 K7EJP0;K7EN02;P19429;Q6FGX2 ABBA01068119;AC010327;AK223451;AMYH02036453;BC096165;BC096166;BC096167;BC099631;BT019517;CR541985;CR542012;EU747720;GU324921;KF459707;M64247;NG_007866;NM_000363;X54163;X90780 AAA16157;AAH96165;AAH96166;AAH96167;AAH99631;AAV38324;ACH92818;ADL14492;BAD97171;CAA38102;CAA62301;CAG46782;CAG46809;NP_000354;P19429 Hs.709179 CMD1FF;CMD2A;CMH7;MGC116817;RCM1;TNNC1;cTnI cardiac troponin I;cardiomyopathy, dilated 2A (autosomal recessive);familial hypertrophic cardiomyopathy 7;troponin 1, type 3;troponin I, cardiac muscle APPROVED protein-coding ENSG00000129991 HGNC:11947 11769 115210;191044;611880;613286;613690 REVIEWED 1318103 TNPO1 transportin 1 This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in two transcript variants encoding different proteins. [provided by RefSeq, Jul 2008] 5 5 5 q13.2 68007813 68105601 + 72112418 72210215 + 72816591 72914388 + 6480464;8554872 10202161;10353245;10366569;10525473;10668806;10688363;10772949;10860744;10875935;10888652;10944119;11024021;11035935;11278458;11310559;11389849;11682607;11774384;11824786;12368302;12384575;12414950;12477932;12551970;12614157;12620808;12905863;14702039;15037768;15047060;15342649;15489334;15507604;16196087;1631159;16704975;17342744;17474147;17586317;17643375;17936704;17997969;18445273;18781797;18846510;19057841;19124606;19275582;19549784;19641022;20015032;20308327;20606625;21081666;21139048;21285245;21326825;21489275;21808065;21890473;21906983;21963094;21965294;21983832;21987572;22053931;22174317;22442722;22509482;22586326;22623428;22783232;22842875;22863883;22934812;22939629;22968170;23000965;23012356;23022380;23056579;23181366;23266416;23333309;23455922;23535894;23667531;23956138;24200467;24654937;24753571;24780099;24816145;7604027;8105392;8521471;8808633;8986607;9144189;9202393;9275210;9298975;9366553;9405152;9430704;9436978;9463369;9562972;9582382;9621063;9632798;9687515;9817747;9891055 3842 B4DSC0;E7EW37;Q92973;S4R398 ABBA01061907;ABBA01061908;ABBA01061909;ABBA01061910;AC008953;AC008972;AC035140;AK055669;AK124768;AK299671;AK301021;AK308177;AMYH02011556;AMYH02011557;BC040340;CH471084;KC877006;NM_002270;NM_153188;U70322;U72069;U72395;XM_005248500;XM_005248501 AAB58254;AAB68948;AAC50723;AAH40340;ABW03429;BAG61582;BAG62638;EAW95713;EAW95714;EAW95715;NP_002261;NP_694858;Q92973;XP_005248557;XP_005248558 Hs.482497 1335981;1678551;1771781;1850924;1850946;2156620;2162891;2173242;5024656;5094973 D5S2535;D5S2552;D5S357;RH27246;RH45742;RH79799;SHGC-31301;STS-R76240;TNPO1;WI-13973 IPO2;KPNB2;MIP;MIP1;TRN M9 region interaction protein;OTTHUMP00000126960;OTTHUMP00000222024;OTTHUMP00000226224;importin 2;importin beta 2;importin beta-2;karyopherin (importin) beta 2;karyopherin beta-2;transportin-1 APPROVED protein-coding HGNC:6401 04210 602901 REVIEWED 6481088 TNR-IT1 TNR intronic transcript 1 (non-protein coding) q25.1 100874256 AL021919;AL079817 Hs.671138 ncrna HGNC:41391 1344584 TNR1 Turner syndrome 1 7677140 7144 HGNC:11954 1351438 TNRC17 trinucleotide repeat containing 17 q21.3 9225980 27321 U80752 CAGL234 miscrna HGNC:11961 1318997 TNPO3 transportin 3 The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Two transcript variants encoding different isoforms as well as a noncoding transcript have been found for this gene.[provided by RefSeq, Jul 2010] 7 7 7 q32.1 123390730 123491720 - 128594234 128695227 - 128954180 129055173 - 1580863;6480464;7240710;8699517;8554872 10366588;10713112;11517331;12134081;12477932;12628928;12690205;12913210;14702039;15231748;15316618;15489334;15829567;16344560;16730941;17110338;17353931;18029348;18187620;18204098;18204446;18722123;18727908;18854154;19232540;19275582;19322201;19458352;19479858;19615732;19846519;20379614;20383147;20453842;20639879;20639880;20719241;20861858;21083892;21139048;21276267;21297633;21326825;21399635;21408207;21409951;21651489;21750679;21779181;21890473;21901095;21976634;21976643;22028839;22145813;22174692;22176773;22291694;22398280;22509482;22762018;22863883;22872638;22872640;22895508;22928108;22939629;22956906;23000965;23053960;23087682;23097435;23128233;23181366;23383273;23414560;23543484;23602568;23622145;23667531;23667635;23740937;23878195;23956138;24051001;24449914;24654937;24816145;8125298 23534 B3KMX1;C9J7E5;E9PFH4;Q9Y5L0 ABBA01057646;ABBA01057647;ABBA01057648;AC018639;AC025594;AF145029;AJ133769;AK001263;AK022910;AK225999;AK312580;AMYH02016722;AMYH02016723;AMYH02016724;AMYH02016725;AW051835;BC009221;BC009923;BC068530;BQ774864;CB992781;CH236950;CH471070;DA188633;DA720844;DA773316;NG_023428;NM_001191028;NM_012470;NR_034053;XM_006715911 AAD38537;AAH09221;AAI56518;AAI72512;BAG35474;BAG50881;BAG51133;CAB42643;EAL24106;EAW83708;EAW83709;EAW83710;NP_001177957;NP_036602;Q9Y5L0;XP_006715974 Hs.193613 1336786;1650507;1672754;1698486;1773592;2186182;2190891 D7S2544;D7S2931;D7S2941;MARC_10379-10380:999106921:1;RH102793;SHGC-53241;STS-AA100521 IPO12;LGMD1F;MTR10A;TRN-SR;TRN-SR2;TRNSR;imp12 OTTHUMP00000212900;OTTHUMP00000212901;OTTHUMP00000212902;OTTHUMP00000212903;importin 12;importin-12;limb girdle muscular dystrophy 1F (autosomal dominant);transportin-3;transportin-SR APPROVED protein-coding ENSG00000064419 HGNC:17103 18209 608423;610032 REVIEWED 736031 TNP2 transition protein 2 (during histone to protamine replacement) ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN acrosome reaction (inferred); binding of sperm to zona pellucida (inferred); cell differentiation (inferred); FOUND IN nucleosome (inferred); nucleus (inferred); INTERACTS WITH aflatoxin B1; disodium selenite; 17alpha-ethynylestradiol (ortholog) 16 16 16 p13.13 11531105 11532551 - 11361714 11363160 - 11267857 11269303 - 1580863;6480464 10659848;12477932;12775710;1385303;1395729;16291974;16989827;17852044;18727729;18978792;19460752;19607827;19710011;20378615;20522125;20800603;22190364;2250010;23327642;23568457;7711033;7983046;8428967;8961924;9809674;9837753 7142 Q05952;Q4VB56 AB281701;ABBA01006810;AC009121;AF215715;AI220577;AMYH02031463;BC096135;BC096136;BC096137;BX282422;CH471112;HC007348;L03378;NM_005425;U15422;X63758;X63759;Z46940 AAA61203;AAC50488;AAF35854;AAH96135;AAH96136;AAH96137;BAF36710;CAA45290;CAA45291;CAA87067;CBH19479;EAW85161;EAW85162;NP_005416;Q05952 Hs.513349 1658393;5492823 RH70860;UniSTS:482873 MGC116783;MGC116785;TP-2;TP2 nuclear transition protein 2;transition protein 2 protein-coding ENSG00000178279 HGNC:11952 01831 190232 VALIDATED 6906998 TNRC18P1 TNRC18P1 4 4 4 q31.21 138886465 138893851 - 141562345 141564234 - 140641191 140643080 - 644962 ABBA01069981;AC108019;AK127954;AMYH02010212;HY041731;NR_077215 Hs.676500 pseudo HGNC:43881 VALIDATED 1345656 TNRC18P2 trinucleotide repeat containing 18 pseudogene 2 INTERACTS WITH paracetamol 7 7 7 q11.21 59966567 59966793 - 63026751 63045452 - 63566373 63585074 - 6480464 27320 AC006015;AMYH02015844;NG_009899 1758637 SHGC-148981 TNRC18;TNRC18B hypothetical protein LOC27320;trinucleotide repeat containing 18 APPROVED pseudo HGNC:34014 INFERRED 2303660 TNRC18P3 trinucleotide repeat containing 18 pseudogene 3 7 7 p11.2 57063241 57076859 + 56995534 57009152 + 340221 AC069152;AC122133;AMYH02015767;NG_009812 TNRC18C APPROVED pseudo HGNC:34015 INFERRED 1353307 TNRC21 trinucleotide repeat containing 21 9225980 27318 O15418 U80756 AAB91448;O15418 CAGL114 protein-coding HGNC:11964 1349518 TNRC8 trinucleotide repeat containing 8 p11.4 12477932;14702039;9225980 27325 AK025872;AK056476;BC029936;U80740 Hs.592375 CAGH39 miscrna HGNC:11971 1321214 TNPO2 transportin 2 ENCODES a protein that exhibits nuclear localization sequence binding (inferred); Ran GTPase binding (inferred); INVOLVED IN intracellular protein transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; calcitriol 19 19 19 p13.2 12699722 12724521 - 12810008 12834838 - 12699194 12723996 - 1580863;6480464;8554872 10875935;11729309;12384575;12477932;12896982;14702039;14981248;15037768;16169070;16344560;16901787;17353931;19322201;20606625;21044950;21139048;21646354;21890473;21906983;21963094;23000965;23956138;24250222;24780099;24816145;25027693;8681137;9298975 30000 K7ELC3;K7EMA3;K7ENW1;K7ESC1;K7ESG1;K7ESJ3;O14787;Q05D48;Q4LE60 AB210011;ABBA01029778;ABBA01029779;AC018761;AF007748;AF019039;AK022217;AK056183;AK299485;AK307632;AL832114;AMYH02035553;AMYH02035554;BC018314;BC063679;BC072420;CH471106;DA100622;DA808781;DC377831;DC407313;F15550;NM_001136195;NM_001136196;NM_013433 AAB71349;AAB83973;AAH18314;AAH72420;BAE06093;BAG51640;BAG61447;EAW84299;EAW84300;EAW84301;NP_001129667;NP_001129668;NP_038461;O14787 Hs.416049;Hs.714402 1648453;1648900;1734668;2109987;2132860;2159982;2159984;5014019 D19S646E;D19S671E;D5S2354;RH41771;RH47486;RH48370;SGC30101;TNPO2_9626 FLJ12155;IPO3;KPNB2B;TRN2 importin 3;karyopherin beta 2b, transportin;karyopherin beta-2b;transportin 2 (importin 3, karyopherin beta 2b);transportin-2 protein-coding ENSG00000105576 HGNC:19998 603002 VALIDATED 7245460 TNRC6C-AS1 TNRC6C antisense RNA 1 INTERACTS WITH silicon dioxide 17 17 17 q25.3 72696994 72702014 - 76103482 76107880 - 78107401 78111799 - 6480464 12477932;14702039 100131096 ABBA01002944;AC021593;AK092916;AK094898;AK123771;AK127699;AMYH02034048;AY129024;BC041417;NR_040071 AAM98767 Hs.635442 5016478;5020948;5022322;5024761;5037552 D11S2560;D8S2279;G35510;GDB:434012;RH36905 ncrna ENSG00000204282 HGNC:44360 VALIDATED 732585 TNR tenascin R This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013] 1 1 1 q24 148402646 148823466 - 175291935 175712752 - 175322799 175743616 - 6480464;6907045;8554872 10406848;10417662;10773191;10842355;11038354;11246000;11752456;12477932;12927810;14681222;15525355;16344560;16710414;16831557;17537973;17903302;18029348;18415014;18521090;18696101;18769035;19435634;19573479;19890582;20202125;20379614;20452482;20673868;20950796;21456020;21956439;22634605;22730557;23269478;7530148;7694605;8626505;8940128;9081628;9294172;9335257;9371410;9403076;9507007;9539107;9722619 7143 A1L306;H0Y668;Q92752 ABBA01027870;ABBA01027871;ABBA01027872;AK295823;AL021919;AL023285;AL136530;AMYH02002184;AMYH02002185;AMYH02002186;AV650210;BC129830;CH471067;DA804585;DB068074;KF455091;KF455099;KF455115;NM_003285;X98085;Y13359;Z67996;Z94055;Z94057 AAI29831;BAG58640;CAA66709;CAA91947;EAW90994;EAW90995;NP_003276;Q92752 Hs.659864 1335515;1340833;1652377;1691928;1691930;1691932;1691934;1691936;1691938;1691940;1691942;1691944;1692576;1692606;1692938;1708604;1720333;1781486;2118629;2161052;2177520;5118019 AL033939;AL034056;AL034091;AL034092;AL034093;AL034094;AL034095;AL034096;AL034097;AL034098;AL034099;AL034184;B327YG9;D1S1565;D1S2411;D1S2643;D1S370;D1S537;GDB:637251;RH123916;SHGC-132782;SHGC-85092 MGC149328;TN-R OTTHUMP00000032802;janusin;restrictin;tenascin R (restrictin, janusin);tenascin-R APPROVED protein-coding ENSG00000116147 HGNC:11953 03589 601995 VALIDATED 2291816 TNRC18 trinucleotide repeat containing 18 ENCODES a protein that exhibits chromatin binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; formaldehyde 7 7 7 p22.1 5306739 5423637 - 5346421 5463177 - 5306790 5423828 - 6480464;8554872 11181995;11347906;12477932;12853948;15146197;17370265;21693764;21906983;23667531;23752268;24068947;24816145;9225980;9847074 84629 A3KMH2;A8MTZ4;C9J9K1;H7BXS9;H7C0N9;H7C177;H7C3U5;H9KVB4;O15417 AB058759;ABBA01039449;ABBA01039450;ABBA01039451;ABBA01039452;ABBA01039453;ABBA01039454;AC092171;AC093376;AC093620;AI567212;AI738451;AK027341;AMYH02015136;AMYH02015137;AMYH02015138;AMYH02015139;AY129022;BC029940;BC036932;BC068099;BC131808;BX396597;CH471144;CN295035;CR993399;DN990416;DR159642;NG_034123;NM_001080495;U80753;XM_006715797;XM_006715798 AAB91447;AAI31809;AAM98765;BAB47485;BAB55047;EAW87331;EAW87332;EAW87333;EAW87334;EAW87335;NP_001073964;O15417;XP_006715860;XP_006715861 Hs.520638 1340989;1654994;1685994;1697310;1758637;1858293;2182659;5015961;5020289;5111253;7187865 AF021106;D15S1477;D7S2478;RH102152;RH40762;RH47607;SHGC-148981;SHGC-58294;SHGC-59714;WI-8863 CAGL79;KIAA1856;TNRC18A OTTHUMP00000200617;long CAG trinucleotide repeat-containing gene 79 protein;trinucleotide repeat-containing gene 18 protein protein-coding ENSG00000182095 HGNC:11962 VALIDATED 1607049 TNRC6A trinucleotide repeat containing 6A This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 23518894 23615357 + 24741028 24837548 + 24729707 24826227 + 4144862;6480464;8554872 20484662 10737800;10819331;11950943;12477932;12831532;13130130;14598044;14702039;15489334;15494374;15908945;16177138;16196087;16284622;16284623;16418578;16815998;16880270;16906129;17671087;17938239;18345015;18946079;19056672;19167051;19324964;19383768;19470757;19716330;20181956;20198652;20402672;20936779;21063388;21131274;21139048;21145461;21726813;21984184;21984185;22891262;22898980;23090477;23150874;23224966;23224969;23224974;23224975;23314748;23386860;23443559;24023945;24255178;24778252;8781769;8889548;9225980 27327 H3BRT3;H3BTQ1;H7C269;I3L218;I3L3S5;Q8NDV7 AB040893;ABBA01017100;ABBA01017101;AC002565;AC008731;AJ492221;AK001773;AK025277;AK025696;AK094542;AK299905;AL713750;AL833757;AMYH02031724;AMYH02031725;AY035864;BC024324;BC068209;BE158958;BU743266;CH471145;NM_014494;U23860;U80739;XM_005255253;XM_005255254;XM_005255255;XM_005255256;XM_005255257;XM_006721038;XM_006721039;XM_006721040 AAB91438;AAH24324;AAI72409;AAK62026;BAA91899;BAA95984;BAG52884;BAG61746;CAD28525;CAD37348;CAH56236;EAW55782;EAW55783;EAW55784;EAW55785;EAW55786;EAW55787;NP_055309;Q8NDV7;XP_005255310;XP_005255311;XP_005255312;XP_005255313;XP_005255314;XP_006721101;XP_006721102;XP_006721103 Hs.655057 1701290;2119786;2170955;2191061;5014051;5014606;5015881;5021872;5022200;5037552 D8S2278;D8S2279;GDB:335751;L17913;L18426;MARC_13877-13878:1007496206:1;RH104274;SHGC-61076;SHGC-61178;sY3084 CAGH26;DKFZp666E117;EDIE;FLJ22043;GW1;GW182;KIAA1460;MGC75384;TNRC6 CAG repeat protein 26;EMSY interactor protein;GW182 autoantigen;OTTHUMP00000122485;OTTHUMP00000195164;OTTHUMP00000195165;glycine-tryptophan protein of 182 kDa;trinucleotide repeat-containing gene 6A protein APPROVED protein-coding ENSG00000090905 HGNC:11969 11640 610739 REVIEWED 1349772 TNRC6C trinucleotide repeat containing 6C ENCODES a protein that exhibits nucleotide binding (inferred); RNA binding (inferred); INVOLVED IN positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; PARTICIPATES IN microRNA pathway; FOUND IN cytosol (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 17 17 17 q25.3 72596318 72700896 + 76000194 76104916 + 78004113 78108835 + 1580863;4144862;6480464 20484662 10997877;12168954;12477932;14702039;15489334;16344560;16625196;16880270;19304925;19383768;19470757;19716330;20098421;21063388;21145461;23400010;24778252 57690 K7EKN9;K7ELY5;Q9HCJ0 AB046802;ABBA01002944;ABBA01002945;AC015804;AC021593;AI337097;AK000022;AK054995;AK056421;AK092762;AK098609;AL834429;AMYH02034048;BC039479;BC045631;CH471099;DA339992;DV080590;NM_001142640;NM_018996;XM_005257547;XM_005257548;XM_006721996;XM_006721997;XM_006721998;XM_006721999;XM_006722000 AAH45631;AAI56367;AAI57116;BAA90890;BAB13408;BAB71179;CAD39090;EAW89480;EAW89481;EAW89482;EAW89483;EAW89484;EAW89485;NP_001136112;NP_061869;Q9HCJ0;XP_005257604;XP_005257605;XP_006722059;XP_006722060;XP_006722061;XP_006722062;XP_006722063 Hs.569831 1670090;1751783;1751787;1797212;5015619;5037552 D11S3114;D8S2279;FLJ20015;RH65140;SHGC-105772;SHGC-105798 FLJ20015;KIAA1582 OTTHUMP00000236672;OTTHUMP00000236673;trinucleotide repeat-containing gene 6C protein protein-coding ENSG00000078687 HGNC:29318 10026 610741 VALIDATED 1350349 TNRC6B trinucleotide repeat containing 6B ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN gene silencing by RNA; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; PARTICIPATES IN microRNA pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); benzo[a]pyrene 22 22 22 q13.1 24242863 24533872 + 40440046 40731812 + 40044817 40335808 + 1580863;4144862;6480464;8554872 20484662 10409428;10470851;10591208;12168954;12477932;15489334;16196087;16289642;16344560;16713569;16880270;17891150;17932509;18029348;19117981;19167051;19383768;19470757;19549807;19570815;19716330;19838187;20690139;20696395;21063388;21139048;21145461;21460842;22219177;23065704;23604678;23892540;24255178;24457600;24778252;24816145;8889548 23112 B0QYM5;H0Y720;Q9UPQ9 AB029016;ABBA01055588;ABBA01055589;ABBA01055590;ABBA01055591;ABBA01055592;ABBA01055593;ABBA01055594;ABBA01055595;ABBA01055596;ABBA01055597;AK294519;AK296590;AK304087;AL022238;AL031589;AL033547;AL831862;AMYH02038394;AMYH02038395;AMYH02038396;AMYH02038397;AMYH02038398;AMYH02038399;AMYH02038400;AMYH02038401;AMYH02038402;AMYH02038403;BC028626;BC046218;BE501815;BG942870;BQ009349;BU584176;BX537577;BX647630;BX952326;CA312515;CH471095;DB147781;KF457467;NM_001024843;NM_001162501;NM_015088;Z83847;Z93783 AAH28626;BAA83045;BAG57731;BAG59207;BAG64993;EAW60367;EAW60368;EAW60369;EAW60370;EAW60371;EAW60372;EAW60373;NP_001020014;NP_001155973;NP_055903;Q9UPQ9 Hs.372082 1337373;1656933;1676670;1683904;1684720;1712613;1738991;1747485;1750057;1752705;1771518;2126332;2140258;2158599;2185499;2190509;7185707 D22S1009E;D22S1077;D22S293E;D6S1662;EST13B2;G65455;RH120155;RH47588;RH48205;RH93125;SGC38330;SHGC-106513;SHGC-112316;SHGC-52542;SHGC-64051;STS-R92764 KIAA1093 OTTHUMP00000199175;OTTHUMP00000199176;OTTHUMP00000199177;trinucleotide repeat-containing gene 6B protein protein-coding ENSG00000100354 HGNC:29190 610740 VALIDATED 1343878 TNXA tenascin XA (pseudogene) FOUND IN extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; 17alpha-ethynylestradiol (ortholog); ammonium chloride (ortholog) 6 6 6 p21.3 33575958 33580680 - 31976197 31980800 - 32008420 32013023 - 1298605;6480464 2475872 10343159;12121677;1373808;15339882;1988494;8132574;8530023 7146 Q16473 AL645922;AL929593;AMYH02013460;BM906343;BX679671;CR753845;CR936924;L26263;NR_001284;S38953 AAB22399;Q16473 Hs.708061 1648514;1678425;1797462;2106659;2121053;2137309 CYP21A2_2362;RH11436;RH36425;SHGC-12566;STK19__5340;WI-7720 D6S103E;HXBL;TNX;XA APPROVED pseudo HGNC:11975 VALIDATED 1605916 TNS4 tensin 4 ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN protein localization; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN focal adhesion; INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; aflatoxin B1; arsenous acid 17 17 17 q21.2 35292232 35318009 - 38632080 38657933 - 40475828 40501681 - 6480464;8554872 10737800;12154022;12477932;12711115;14702039;15001839;15489334;15498874;15778465;15806167;16273093;17190795;17643115;17765673;18612693;19194507;19487278;19725034;19913121;20390342;20628086;21339732;21698197;21906983;21963094;21987572;22750970;23500447;23774213;24814316;8889548 84951 J3QLA4;Q6PJP3;Q8IZW8 ABBA01031824;ABBA01031825;ABBA01031826;AC018629;AF370421;AF417488;AK027856;AMYH02033400;AW378527;AW937802;BC013373;BC018706;BM710196;CH471152;NM_032865;XM_005257744 AAH13373;AAH18706;AAN32666;AAQ15257;BAB55413;EAW60666;EAW60667;NP_116254;Q8IZW8;XP_005257801 Hs.438292 1662127;1705528;2218760 CTEN__4650;RH69878;SHGC-83863 CTEN;FLJ14950;PP14434 C terminal tensin like;C-terminal tensin-like protein;OTTHUMP00000164465;tensin-4 protein-coding ENSG00000131746 HGNC:24352 12223 608385 VALIDATED 6893085 TOB1-AS1 TOB1 antisense RNA 1 17 17 17 q21.33 45405230 45407077 + 48944040 48945732 + 50866679 50868371 + 12477932 400604 ABBA01041249;AC091062;AMYH02033603;BC039664;BP421960;BQ222352;BU600024;NR_038458 Hs.641441 1775626 RH77870 ncrna ENSG00000229980 HGNC:44340 VALIDATED 1323398 TNS3 tensin 3 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN cell migration (inferred); intracellular signal transduction (inferred); lung alveolus development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; focal adhesion; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 7 7 7 p12.3 47415102 47679562 - 47314752 47621742 - 47275154 47582144 - 6480464;8554872 11559528;12477932;14702039;15140944;15174051;16273093;16461921;17190795;17643115;18029348;18424204;18561090;19194507;19732724;20379614;21139048;21216879;22863883;22939629;23803643;23809228;24654937;9847074 64759 C9JHU5;C9JTD0;C9JUW5;C9JWN9;E9PCX8;H7BZ64;Q68CZ2 AB062750;AB208995;ABBA01041098;ABBA01041099;ABBA01041100;ABBA01041101;ABBA01041102;ABBA01058270;ABBA01058271;ABBA01058272;ABBA01058273;AC073341;AC092000;AF378756;AF417489;AK001539;AK002151;AK023794;AK092864;AK310472;AL833845;AMYH02015655;AMYH02015656;AMYH02015657;AMYH02015658;AMYH02015659;BC071791;BC137133;BC137134;BX648770;CH236958;CH471128;CR749644;HI574168;KF510290;KF511035;NM_022748 AAH71791;AAI37134;AAI37135;AAL11993;AAN32667;AAQ96841;BAB14682;BAB60681;BAC03993;BAD92232;CAD38705;CAH18438;CBX47573;EAW61011;EAW61012;EAW61013;EAW61014;EAW61015;NP_073585;Q68CZ2 Hs.520814 1335825;1339627;1654521;1676452;1708704;1708780;1711018;1720897;1720945;1759337;1763399;1765555;1766477;1848647;2125227;2140771;2141026;2171998;2176159;2186800;5024039;7183680 D16S325;D7S2561;D7S2903;D7S665;G59277;GDB:1317158;GDB:1317674;GDB:1318084;GDB:1318742;RH122315;RH15632;RH48730;SHGC-147116;SHGC-149022;SHGC-149803;SHGC-151008;SHGC-33086;SHGC-81047;SHGC-81496;SHGC-84888;WI-16910 DKFZp686K12123;DKFZp686M1045;FLJ13732;FLJ35545;H_NH049I23.2;MGC88434;TEM6;TENS1 H_NH0549I23.2;OTTHUMP00000082709;tensin-3;tensin-like SH2 domain containing 1;tensin-like SH2 domain-containing 1;tensin-like SH2 domain-containing protein 1;thyroid specific PTB domain protein;tumor endothelial marker 6 protein-coding ENSG00000136205 HGNC:21616 606825 VALIDATED 1352967 TOB1 transducer of ERBB2, 1 This gene encodes a member of the transducer of erbB-2 /B-cell translocation gene protein family. Members of this family are anti-proliferative factors that have the potential to regulate cell growth. The encoded protein may function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 17 17 17 q21 45400917 45402746 - 48939584 48945339 - 50862223 50867978 - 1580863;6480464 10602502;11163184;11260258;11327693;11429045;11694881;11904957;12050114;12135500;12151396;12477932;12782279;14643028;15051490;15235587;15489334;15676026;16169070;16344560;16890162;16951159;16997058;17164348;17785442;18056425;18084094;18377426;19276069;19322201;19453261;19491269;19569230;20595394;21130766;21336257;21533545;21577013;21726813;21832049;22158108;22252318;22710759;23066029;23178487;23589165;23756562;8632892;9210596;9716660 10140 P50616;Q2TU63 AA675891;ABBA01041249;AC091062;AK313904;AMYH02033602;AMYH02033603;AY524047;BC031406;BC070493;BC098415;BT019380;BT019381;CH471109;CR536487;CR541686;D38305;DA039934;NM_001243877;NM_001243885;NM_005749 AAH31406;AAH70493;AAH98415;AAS94256;AAV38187;AAV38188;ABM81763;ABM84918;ABM84919;BAA07423;BAG36627;CAG38726;CAG46487;EAW94577;EAW94578;NP_001230806;NP_001230814;NP_005740;P50616 Hs.703321;Hs.744946 1668694;1691038;1739651;1793094 D17S1726E;PMC196063P2;RH45773;RH71321 APRO6;MGC104792;MGC34446;PIG49;TOB;TROB;TROB1 OTTHUMP00000221803;proliferation-inducing gene 49;transducer of erbB-2 1 APPROVED protein-coding ENSG00000141232 HGNC:11979 09273 605523 REVIEWED 1342508 TOB2 transducer of ERBB2, 2 TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004] 22 22 22 q13.2 25635881 25649416 - 41829492 41844234 - 41433488 41448230 - 1580863;6480464 10591208;10602502;11258795;11260258;11429045;12135500;12477932;15461802;15489334;17785442;19322201;19760502;19940862;20360068;21242960;21726813;22252318;22561518 10766 B0QXZ4;Q14106 AB035207;AB051450;ABBA01055636;AI362988;AL008582;AMYH02038439;AMYH02038440;BC028919;BC038957;BM453650;CR456594;CR541684;D64109;NM_016272;XM_005261315;XM_006724105 AAH28919;AAH38957;BAA10971;BAA87042;BAB33333;CAG30480;CAG46485;CAK54625;CAK54924;NP_057356;Q14106;XP_005261372;XP_006724168 Hs.474978 2180263;5014053;5021884;5113744;5127362 D1S3693;RH28573;RH71330;WI-19547;ha2102 TOB4;TOBL;TROB2 OTTHUMP00000198833;OTTHUMP00000198834;transducer of erbB-2 2 APPROVED protein-coding ENSG00000183864 HGNC:11980 09583 607396 VALIDATED 68636 TNS1 tensin 1 The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. A second transcript from this gene has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q35-q36 212432401 212576690 - 218664512 218808796 - 217799789 217944073 - 1580863;6480464;8554872 10737800;10860821;11023826;11493697;12477932;14702039;14991332;16953426;17081983;17190795;17435217;18029348;18537817;19194507;19240061;19664390;19826001;20010834;20798394;20881960;20936779;21139048;21382349;21900206;21965014;21998595;23284291;24388013;8563175;8810278;9553131 7145 A1L0S7;C9J8K5;C9JFT7;C9JI43;C9JZT0;E7EMG1;E7ERH1;E9PF55;E9PGF5;H7C3Z4;Q59G71;Q86VB0;Q9HBL0 AB209238;ABBA01006022;ABBA01006023;ABBA01062835;AC009469;AF116610;AF172820;AF173897;AF176917;AK001785;AK057328;AK300345;AK309785;AK310169;AL117537;AL706926;AMYH02005783;BC014042;BC033065;BC051304;BC063142;BC071905;BC107758;BC116187;BC116188;BC126910;BC140942;BE142921;CH471063;NM_022648;XM_005246825;XM_005246826;XM_006712721;XM_006712722 AAF71035;AAH14042;AAH51304;AAH71905;AAI16188;AAI16189;AAI26911;AAI40943;AAQ13614;AAQ13644;AAQ13661;AAX88952;BAA91910;BAD92475;BAH13264;CAB55983;EAW70582;EAW70583;EAW70584;EAW70585;EAW70586;EAW70587;NP_072174;Q9HBL0;XP_005246882;XP_005246883;XP_006712784;XP_006712785 Hs.471381 1335997;1339378;1649453;1696096;1698212;1703494;1729640;1734742;2121246;7187037 D2S1528E;D2S173;D2S2249;D2S2814;D2S94;RH102642;SHGC-58428;SHGC-79126;SHGC-82607 DKFZp586K0617;MGC88584;MST091;MST122;MST127;MSTP091;MSTP122;MSTP127;MXRA6;PPP1R155;TNS Matrix-remodelling-associated protein 6;OTTHUMP00000164058;OTTHUMP00000207627;OTTHUMP00000207628;matrix-remodelling associated 6;tensin;tensin-1 APPROVED protein-coding ENSG00000079308 HGNC:11973 02512 600076 REVIEWED 1347878 TOB2P1 transducer of ERBB2, 2 pseudogene 1 INTERACTS WITH all-trans-retinoic acid 6 6 6 p22.1 29789902 29793499 - 28183116 28186707 - 28215338 28218929 - 6480464 12477932 222699;387049 Q8WYV3 ABBA01038015;AK292767;AL022393;AMYH02013392;BC015543;BC039027;BC050562;BC126996;BC126997;CH471081;HQ268503;NR_002936 ADO79995;BAF85456;EAX03138 Hs.161441 1659445;2153072;2189657;5023733;7187259;7187280 AU048745;D6S2227;D6S2305;RH36529 TOB2P;TOB4p;p373c6.3 APPROVED pseudo HGNC:13986 VALIDATED 1352098 TOC tylosis with oesophageal cancer ASSOCIATED WITH Keratosis palmoplantaris with esophageal cancer (inferred) 7240710 7534553 7149 HGNC:11981 148500 1319240 TOE1 target of EGR1, member 1 (nuclear) ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); ASSOCIATED WITH Melanoma (inferred); Neoplastic Syndromes, Hereditary (inferred); FOUND IN nucleus; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; copper(2+) sulfate 1 1 1 p33 44088718 44093026 + 45805342 45809650 + 45339670 45343978 + 6480464;8554872 12477932;12562764;14702039;15146077;15489334;16169070;16344560;16710414;17081983;19508870;21139048;21145461;21642987;21906983;22174317;22365833;22505724;22939629;23151878;23891004;24550385;7829101 114034 Q96GM8 ABBA01050882;AK024011;AK093320;AK293704;AK298162;AL359540;AMYH02000924;AY169960;BC009364;BI495405;CH471059;CR457320;DA887065;NG_008189;NM_025077;XM_005270412;XM_005270413;XR_246230;XR_426587 AAH09364;AAN75441;ADZ15398;BAB14774;BAG52689;BAG57137;BAG60435;CAG33601;EAX06990;NP_079353;Q96GM8;XP_005270469;XP_005270470 Hs.525091 1703256;2176074;2183739;2190799 RH18295;RH68652;SGC31961;TESK2 FLJ13949 OTTHUMP00000009092;target of EGR1 protein 1 protein-coding ENSG00000132773 HGNC:15954 18212 613931 VALIDATED 7245850 TOLLIP-AS1 TOLLIP antisense RNA 1 (head to head) 11 11 11 p15.5 1366885 1367884 + 1330938 1331937 + 1309708 1310707 + 12477932;16344560 255512 ABBA01012136;AC136297;AMYH02024164;BC034741;BC042808;BC066355;DA359936;NR_029409 Hs.588291 ncrna ENSG00000255153 HGNC:27403 VALIDATED 1351961 TOM1L1 target of myb1 (chicken)-like 1 ENCODES a protein that exhibits clathrin binding; protein kinase binding; INVOLVED IN activation of protein kinase activity; negative regulation of mitosis; positive regulation of protein autophosphorylation; FOUND IN cytoplasm; cytosol; endosome; INTERACTS WITH all-trans-retinoic acid; amiodarone; copper(2+) sulfate 17 17 17 q23.2 49440307 49501589 + 52977880 53039328 + 54900691 54961967 + 1580863;6480464 10329004;11711534;12345679;12477932;14702039;15047686;15146197;15579470;15611048;16169070;16412388;16479011;17785434;17977829;18367816;18654987;19220627;19798056;20150893;20182632;20936779;20944134;21139048;21890473;21900206;21903422;21906983;21988832;22053931;22863883;22939629;23023324;23251661;8125298 10040 B4DUW5;B7Z9E2;I3L0N2;I3L1G1;I3L1Q1;I3L1T2;I3L367;I3L3M3;I3L3T4;I3L4G0;I3L4I4;I3L4N3;I3NI44;J3KQU4;K7EP47;O75674;Q8N749 AB065085;ABBA01041283;ABBA01041284;AC007485;AC090824;AJ010071;AK001893;AK223125;AK225351;AK300823;AK303912;AK303913;AK309164;AK315039;AK315907;AMYH02033644;AW044673;AW139144;BC029396;CH471109;CN284148;KC877665;NM_005486;XM_005256914;XM_005256915;XM_006721630;XR_243612 AAH29396;BAB93522;BAD96845;BAG37522;BAG62477;BAG64841;BAG64842;BAH14278;CAA08993;EAW94551;EAW94552;EAW94553;NP_005477;O75674;XP_005256971;XP_005256972;XP_006721693 Hs.153504 1683199;1684784;1690754;2169245;2218842;5121809 RH26130;RH39342;RH78591;RH91952;TOM1L1__5116;WI-16135 OK/KNS-CL.3;SRCASM Src activating and signaling molecule;TOM1-like protein 1;src-activating and signaling molecule protein;target of Myb-like protein 1;target of myb 1-like 1;target of myb1-like 1;target of myb1-like 1 (chicken) protein-coding ENSG00000141198 HGNC:11983 05266 604701 VALIDATED 1317553 TOM1 target of myb1 (chicken) This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 22 22 22 q13.1 19497943 19546669 + 35695268 35743987 + 35299275 35347994 + 1580863;6480464 10329004;10591208;10985773;12477932;12975309;14563850;14613930;14702039;15047686;15231748;15461802;15657082;16196087;16199040;16412388;16903783;17081983;17113392;17550899;17671966;18029348;18367816;18781797;18976975;19056867;19578373;19953087;20083669;20150893;21139048;21291504;21832049;21890473;21906983;21963094;21987572;21988832;22053931;22505724;22863883;22933573;23000965;23023224;23314748;23383273;23503661;24097068;24816145;25015289 10043 B0QY01;B0QY02;B3KUF5;B3KUU1;F8WAW7;F8WB30;F8WBB0;F8WE29;H7BYN7;O60784;V9GYF4;V9GZ68 ABBA01055412;ABBA01055413;AF040251;AJ006973;AK026576;AK090723;AK091958;AK097066;AK097926;AK293694;AK295918;AK296670;AK297827;AK314522;AL008635;AMYH02038299;AY358980;BC040006;BC046151;CH471095;CR456595;CS185568;DC297234;KF457430;NM_001135729;NM_001135730;NM_001135732;NM_005488;NR_024194;NR_024195;R39075;Z82244 AAB97007;AAH46151;AAQ89339;BAG53417;BAG53553;BAG57130;BAG58706;BAG59267;BAG60163;CAA07362;CAG30481;CAJ42749;CAK54626;CAK54925;EAW60053;EAW60054;EAW60055;EAW60056;EAW60057;EAW60058;NP_001129201;NP_001129202;NP_001129204;NP_005479;O60784 Hs.474705 1339300;1711518;1711618;1711620;1711622;1711624;1711626;1711688;1711690;1711794;1711796;1711798;1711804;1758791;1783378;2107699;2119230;2167806;5014053 D1S3693;D22S424;G49260;G49310;G49311;G49312;G49313;G49314;G49346;G49347;G49422;G49423;G49424;G49427;SGC31973;SHGC-152032;SHGC-153073;STS-T90005;TOM1__5115 FLJ33404 OTTHUMP00000198803;OTTHUMP00000198807;target of Myb protein 1;target of myb 1 APPROVED protein-coding ENSG00000100284 HGNC:11982 05265 604700 REVIEWED 8656984 TOMM20P2 translocase of outer mitochondrial membrane 20 homolog (yeast) pseudogene 2 17 17 33841415 33849398 - 35514396 35522379 - 101927540 ABBA01011230;AC015911;AMYH02033349 pseudo HGNC:50519 MODEL 1315512 TOM1L2 target of myb1-like 2 (chicken) ENCODES a protein that exhibits clathrin binding; protein kinase binding; INVOLVED IN negative regulation of mitosis; signal transduction; FOUND IN extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; copper(2+) sulfate 17 17 17 p11.2 18687486 18816554 - 17746822 17875784 - 17843508 17972470 - 1580863;6480464 10036180;11997338;12477932;12975309;14702039;15231748;15489334;15951569;16344560;16412388;16479011;16751776;19056867;19953087;20167577;20936779;21139048;21832049;21890473;21906983;21963094;21987572;22053931;22505724;22939629;23000965;23023224;23314748;23824909;24654937;8619474;8889548;9110174 146691 B7Z2L7;B7Z2U2;B7Z671;F5H3S6;K7EKL6;K7ENB0;Q6ZVM7 ABBA01009743;AC087163;AC122129;AF038192;AF467441;AK025154;AK055959;AK057308;AK124331;AK294846;AK295111;AK299872;AK301944;AK303305;AL133641;AMYH02033098;AMYH02033099;AMYH02033100;AY358769;BC051650;BM976586;CH471196;DA235267;DA335727;KF456255;NM_001033551;NM_001082968;NM_001288786;NM_001288787;NM_001288788;NM_001288789;XM_005256461;XM_005256462;XM_005256463;XM_005256466;XM_006721452 AAH51650;AAL78338;AAQ89129;BAB71421;BAC85834;BAH11903;BAH11978;BAH13157;BAH13590;BAH13936;EAW55684;EAW55685;EAW55686;EAW55687;NP_001028723;NP_001076437;NP_001275715;NP_001275716;NP_001275717;NP_001275718;Q6ZVM7;XP_005256518;XP_005256519;XP_005256520;XP_005256523;XP_006721515 Hs.462379 1676650;1685970;1694940;1748671;1768930;2145778;2166521;5014051;5020740;5024413;5037552 A003A44;D8S2278;D8S2279;G44363;L17809;L17877;RH18303;RH45014;RH80408;RH92777;SHGC-110335 FLJ21501;FLJ32746 OTTHUMP00000065655;OTTHUMP00000065656;OTTHUMP00000065657;TOM1-like protein 2;target of Myb-like protein 2 protein-coding ENSG00000175662 HGNC:11984 18213 615519 VALIDATED 1602627 TOMM20L translocase of outer mitochondrial membrane 20 homolog (yeast)-like INVOLVED IN protein targeting (inferred); FOUND IN integral component of membrane (inferred); mitochondrial outer membrane translocase complex (inferred) 14 14 14 q23.1 38912616 38925391 + 58862644 58875419 + 58395926 58408701 + 12477932;12975309;15733919;24250222 387990 G3V4A4;Q6UXN7 ABBA01018257;ABBA01018258;AL139021;AMYH02029280;AMYH02029281;AY358266;BC137557;BC137563;BC144709;CH471061;NM_207377 AAI37558;AAI37564;AAQ88633;EAW80733;EAW80734;NP_997260;Q6UXN7 Hs.592307 1858239;1858241;2137397;2149142 RH44925;RH46962;RH66721;RH78893 UNQ9438 OTTHUMP00000179029;TOMM20-like protein 1;translocase of outer mitochondrial membrane 20 homolog type I protein-coding ENSG00000196860 HGNC:33752 18275 VALIDATED 8656075 TOMM20P4 translocase of outer mitochondrial membrane 20 homolog (yeast) pseudogene 4 X X X q13.2 72726483 72726920 + 72442960 72443394 + 73223124 73223558 + 100129272 ABBA01059696;AC004074;AMYH02039769;NG_030163 pseudo HGNC:50522 INFERRED 735635 TOMM20 translocase of outer mitochondrial membrane 20 homolog (yeast) ENCODES a protein that exhibits P-P-bond-hydrolysis-driven protein transmembrane transporter activity; unfolded protein binding; INVOLVED IN protein targeting to mitochondrion; protein transmembrane transport; FOUND IN ER-mitochondrion membrane contact site; mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 1 1 1 q42 208515476 208534891 - 235272656 235292256 - 235109341 235128941 - 1580863;6480464 10548729;10980201;10982837;11027586;11913975;12477932;14557246;14699115;15489334;15644312;15733919;16169070;16710414;17081983;18029348;19322201;20686565;20877624;21771790;21890473;21906983;21963094;22280891;22610502;22939629;23000965;23165776;23251661;23275563;23885119;24250222;24583282;24816145;7498524;7584026;7584028;7589431;9119086;9211931;9748310;9756929 9804 AAB35420;Q15388 ABBA01033118;AF126962;AK289810;AL732292;AMYH02002938;BC000882;BC009886;BC066335;BC071994;BC100286;BC107851;CH471098;CQ871290;CR456718;D13641;KF455171;NM_014765 AAB35420;AAF13354;AAH00882;AAH66335;AAH71994;AAI00287;AAI07852;ABM82028;ABW03358;BAA02804;BAF82499;CAG32999;CAH56826;EAW70003;EAW70004;NP_055580;Q15388 Hs.533192 1682948;1683417;1857201;2134452;2153771;5093626 A009U01;D1S2271;G32829;RH28291;RH78701;SHGC-76525 KIAA0016;MAS20;MGC117367;MOM19;TOM20 OTTHUMP00000037593;mitochondrial 20 kDa outer membrane protein;mitochondrial import receptor subunit TOM20 homolog;outer mitochondrial membrane receptor Tom20;translocase of outer mitochondrial membrane 20 homolog type II protein-coding ENSG00000173726 HGNC:20947 03507 601848 VALIDATED 4110022 TOMM22P1 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 1 Y Y Y q11.223 7988980 7989291 + 23292756 23293067 + 21130870 21131181 + 9847074 100499416 ABBA01057517;AC007876;NG_023455 pseudo HGNC:38736 INFERRED 4110021 TOMM22P2 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 2 X Y Y p11.31 88885209 88885445 + 2696023 2696259 + 2827982 2828218 + 9847074 100499417 ABBA01069751;AC006040;NG_023456 pseudo HGNC:38737 INFERRED 4109750 TOMM22P3 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 3 13 13 13 q13.1 14595017 14595418 - 33528194 33528595 - 32954056 32954457 - 11181995 122038 ABBA01010152;AL355504;AMYH02027831;CH471075;NG_023453 EAX08524 pseudo HGNC:38739 INFERRED 1312257 TOLLIP toll interacting protein This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. [provided by RefSeq, Aug 2011] 11 11 11 p15.5 1332006 1366839 - 1295598 1330892 - 1274368 1309662 - 1580863;5490218;6480464;6484113;6907045;8554872 18535784 1085432;10854325;11076863;11230166;11397809;11441107;11751856;12477932;12628920;14563850;14702039;15047686;15231747;15388348;15489334;15489336;16024789;16107720;16169070;16189514;16344560;16381901;16412388;16713569;17113392;17276401;17362526;18985539;18987746;19056867;19060904;19285159;19322201;19423540;19444506;19447967;19716405;19851296;20198315;20237496;20406964;20438785;20936779;21048031;21139048;21219635;21291504;21294713;21867680;21890473;21903422;21906983;21963094;21987572;21988832;22053931;22505724;22582869;22778396;22797925;22863883;22939629;23000965;23027871;23244239;23314748;23880770;24250222;24285748;24294608;24429156;25015289;25042851;8837778;9426216 54472 B3KR28;E7EN89;E9PNS3;E9PP67;E9PQ25;F2Z2Y8;Q6FIE9;Q9H0E2 AA861717;AB209541;ABBA01012136;AC136297;AJ242972;AK022871;AK090850;AK096693;AK127123;AK315592;AL136835;AMYH02024164;AY730683;BC004420;BC012057;BC018272;BX648136;CH471158;CR533477;DB039994;KF455301;NM_019009 AAH04420;AAH12057;AAH18272;AAX22229;ABM82728;ABM85912;BAB14283;BAC04844;BAD92778;BAG37964;BAG52240;BAG54438;CAB58118;CAB66769;CAG38508;CAL38251;EAX02433;EAX02434;EAX02435;NP_061882;Q9H0E2 Hs.368527 1668172;1685341;1699322;1772518;1796990;2117266;2151473 IB1016;RH103248;RH46115;RH48854;RH92496;STS-T23430;TOLLIP_1105 FLJ33531;IL-1RAcPIP OTTHUMP00000164471;OTTHUMP00000232257;OTTHUMP00000232258;OTTHUMP00000232259;OTTHUMP00000232262;adapter protein;toll-interacting protein APPROVED protein-coding ENSG00000078902 HGNC:16476 05887 606277 VALIDATED 1342792 TOMM22 translocase of outer mitochondrial membrane 22 homolog (yeast) The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008] 22 22 22 q12-q13 22884631 22887442 + 39077954 39080765 + 38681949 38684760 + 1580863;6480464;8554872 10900208;10980201;10982837;12198123;12477932;14557246;14699115;14702039;15461802;15489334;15644312;16196087;16712791;17081983;17096026;17635912;18029348;19322201;19946888;20877624;21139048;21890473;21906983;22178394;22198199;22280891;22939629;23503661;23874603;24149440;8125298 56993 Q549C5;Q9NS69 AA522979;AB040119;AB041906;ABBA01055530;AF163256;AK024731;AK223021;AK312076;AL021707;AMYH02038361;BC009363;BQ961547;CB142641;CH471095;CR456475;NM_020243 AAH09363;AAQ13585;ABM83971;ABM87288;BAB03306;BAB14979;BAB16408;BAD96741;BAG35012;CAG30361;CAK54456;CAK54755;EAW60253;EAW60257;NP_064628;Q9NS69 Hs.595072 1856322;5091745 RH17776;WI-20226 1C9-2;MST065;MSTP065;TOM22;hTom22 OTTHUMP00000198879;mitochondrial import receptor Tom22;mitochondrial import receptor subunit TOM22 homolog;translocase of outer membrane 22 kDa subunit homolog APPROVED protein-coding HGNC:18002 06130 607046 REVIEWED 1345578 TNXB tenascin XB This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33575958 33644194 - 32008932 32077151 - 32041155 32109374 - 1599494;1580863;6480464;6907045;7240710;8554872;8699517 11642233 10072631;10207042;10343159;10737800;11122379;12121677;12376099;12477932;12746407;1373808;14656967;14729256;15102077;15339882;15342556;15455729;15733269;16278880;16335952;16567571;17033827;17192952;17202312;17263730;17453911;18058064;18091320;18155129;18335242;18391951;18588874;18679583;19116923;19143814;19143821;19198610;19204726;19266077;19738457;19851445;19860791;19913121;20041166;20301456;20587610;20628086;20853426;21317684;21408207;21829377;22588153;22694956;22827484;22991340;23028341;23284009;23620400;23886662;2475872;7686164;8530023;8923003;9278449;9288108 7148 C9J7W4;E7EPZ9;O95680;O95681;P22105;Q6IPK3;Q9NPK7;Q9NPK8;Q9Y464 AB209012;ABBA01038102;ABBA01038103;ABBA01038104;AF019413;AF077974;AK310080;AL044866;AL049547;AL645922;AL662828;AL662849;AL662884;AL772248;AL929593;AMYH02013465;AMYH02013466;BC033740;BC071883;BC125114;BC125115;BC130037;BI010479;BP233293;BP420628;BQ446909;BX679671;CH471081;CR547132;CR753803;CR753845;CR759792;CR925796;CR936882;CR936919;CR936924;EU219621;M25813;NG_008337;NM_019105;NM_032470;U24488;U52696;U52697;U52698;U52699;U52700;U89337;X71923;X71927;X71937;Y13782;Y13783;Y17865;Y17866;Y17867;Y17868 AAA35884;AAB41287;AAB47488;AAB67981;AAC50880;AAC50882;AAH33740;AAH71883;AAI25115;AAI25116;AAI30038;ACA14133;ADZ15483;BAD92249;CAA50739;CAA50740;CAA74109;CAA74110;CAA76899;CAA76900;CAA76901;CAA76902;CAB89296;CAB89297;CAB89298;CAB89299;CAB89300;EAX03572;EAX03573;EAX03574;EAX03575;EAX03576;EAX03577;EAX03578;EAX03579;NP_061978;NP_115859;P22105 Hs.485104 1678425;1790875;1797462;2106225;2106227;2137309;2189367;7184131 CYP21A2_2362;D6S2670;D6S2920;D6S2921;MARC_2920-2921:991933729:7;RH11436;WI-7720 EDS3;HXBL;TENX;TN-X;TNX;TNXB1;TNXB2;TNXBS;VUR8;XB;XBS OTTHUMP00000174881;OTTHUMP00000216549;growth-inhibiting protein 45;hexabrachion-like protein;tenascin XB1;tenascin XB2;tenascin-X APPROVED protein-coding ENSG00000168477 HGNC:11976 02993 130020;600985;606408;615963 REVIEWED 6480956 TOMM22P4 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 4 4 4 163442854 163443193 + 162521702 162522041 + 100874517 ABBA01070258;AC097379;AMYH02010409;NG_032214 pseudo HGNC:38740 INFERRED 4109367 TOMM22P6 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 6 3 3 3 q26.1 160627422 160627852 - 162204307 162204737 - 162486519 162486949 - 100287573 ABBA01058780;AC128711;AMYH02008043;NG_023451 pseudo HGNC:38742 INFERRED 4109467 TOMM22P5 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 5 10 10 10 q26.11 114111559 114134356 + 120380919 120403710 + 118621407 118644198 + 390007 ABBA01062931;ABBA01062932;AL356865;AMYH02023894;NG_023452 1773294;1774850 SHGC-5523;U75534 pseudo HGNC:38741 INFERRED 1319142 TOMM34 translocase of outer mitochondrial membrane 34 The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008] 20 20 20 40279403 40297749 - 43570771 43589114 - 44942130 44960473 - 1580863;6480464 10101285;11549316;11780052;11913975;11913976;12477932;15489334;16820880;17081983;18364745;19738201;19875381;19946888;20877624;21044950;21139048;21360678;21906983;22178133;22623428;22863883;22939629;23000965;23053644;24163370;24250222;24567332;24816145;25036637;8125298;9324309;9660753 10953 Q15785;Q6ZPD0 AB085681;ABBA01052655;AK000594;AK129538;AK222952;AK302128;AK307655;AL109839;AMYH02037144;BC001763;BC006573;BC007423;BC014907;BI560064;BT020008;BT020009;CH471077;CR456765;NM_006809;U58970;XM_005260254;XR_244131 AAC64484;AAH01763;AAH07423;AAH14907;AAV38811;AAV38812;ABM82077;ABW03362;BAC85180;BAD96672;BAF32949;BAG63505;CAG33046;EAW75885;EAW75886;NP_006800;Q15785;XP_005260311 Hs.517066 1646035;1686030;1715615;1725783;2109989;2120826 D20S540E;G62132;RH119893;RH18281;SHGC-31967;TOMM34_9203 HTOM34P;TOM34;URCC3;hTom34 OTTHUMP00000031079;mitochondrial import receptor subunit TOM34;outer mitochondrial membrane translocase (34kD);translocase of outer membrane 34 kDa subunit APPROVED protein-coding ENSG00000025772 HGNC:15746 11641 616049 REVIEWED 1604579 TOMM40L translocase of outer mitochondrial membrane 40 homolog (yeast)-like ENCODES a protein that exhibits porin activity (inferred); INVOLVED IN ion transport (inferred); protein transport (inferred); transmembrane transport (inferred); PARTICIPATES IN amyotrophic lateral sclerosis disease pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN protein complex; INTERACTS WITH copper atom; copper(0); copper(2+) sulfate 1 1 1 q23.3 134262975 134267550 + 161195729 161200536 + 161225939 161230746 + 6480464;6907045;8554872 11076863;11230166;11256614;12477932;14702039;15489334;15489336;16344560;16381901;16710414;20877624;21988832 84134 Q969M1;Q9H9G4 ABBA01016596;AC243898;AK022832;AK027704;AK297831;AK297848;AL523459;AL590714;AX877337;AX882317;BC014946;BX537951;CA411898;CH471121;DA160426;DA199234;NM_001286373;NM_001286374;NM_032174;XM_006711572;XM_006711573;XM_006711574;XM_006711575 AAH14946;BAB14265;BAB55309;BAH12674;BAH12676;CAD97918;CAE89679;CAE91529;CAL37516;CAL37967;EAW52611;EAW52612;EAW52613;EAW52614;EAW52615;EAW52616;EAW52617;NP_001273302;NP_001273303;NP_115550;Q969M1;XP_006711635;XP_006711636;XP_006711637;XP_006711638 Hs.321653 1675289;1770437;2169670;2175302;5093974 A009Z46;D1S3429;G33032;RH70980;RH71314 FLJ12770;RP11-297K8.10;TOMM40B OTTHUMP00000032242;OTTHUMP00000032243;mitochondrial import receptor subunit TOM40B;protein TOMM40-like;translocase of outer mitochondrial membrane 40 homolog-like protein-coding ENSG00000158882 HGNC:25756 13354 VALIDATED 1347873 TOMM5 translocase of outer mitochondrial membrane 5 homolog (yeast) ENCODES a protein that exhibits protein transporter activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); protein targeting to mitochondrion (inferred); FOUND IN mitochondrial outer membrane translocase complex; mitochondrion; INTERACTS WITH arsenite(3-); dimethyl sulfoxide; dioxygen 9 9 9 p13.2 37521641 37525867 - 37588410 37592636 - 37588413 37592639 - 6480464 12477932;15164053;15489334;18029348;18331822;21139048;21832049;21890473;21906983;23000965;24816145;8889548 401505 F8W8Z9;H0YFG9;Q8N4H5 AB435233;ABBA01050391;ABBA01050392;AL513165;AMYH02019496;BC029423;BC034247;BM693831;DB451927;NM_001001790;NM_001134484;NM_001134485 AAH34247;BAG30953;NP_001001790;NP_001127956;NP_001127957;Q8N4H5 Hs.130774 1770886;2167229 RH48090;WI-18403 C9orf105;RP11-263I4.1;Tom5;bA613M10.3 OTTHUMP00000021387;OTTHUMP00000021388;OTTHUMP00000239876;OTTHUMP00000239877;mitochondrial import receptor subunit TOM5 homolog;mitochondrial outer membrane protein TOM5 protein-coding ENSG00000175768 HGNC:31369 16672 VALIDATED 2300132 TOMM6 translocase of outer mitochondrial membrane 6 homolog (yeast) INVOLVED IN cellular protein metabolic process (inferred); protein targeting to mitochondrion (inferred); FOUND IN mitochondrion; INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); rotenone (ortholog) 6 6 6 p21.1 43308511 43310964 + 41755181 41757634 + 41787443 41789896 + 6480464 12477932;14574404;14702039;15489334;16097034;16341674;18331822;7923143 100188893 Q96B49 AB435319;ABBA01050747;AF216754;AJ420506;AL365205;AMYH02013610;AMYH02013611;BC015975;BC018624;BC022274;BC067252;BC107435;BM783950;L34839;NM_001134493 AAF25683;AAH15975;AAH18624;AAH22274;BAG30996;NP_001127965;Q96B49 Hs.731633 1675718;1697274;1772673;1813444;1813640;1814456;1980098;1980100;1980102;1980104;1980106;1980108;1980110;1980112;1980114;1980116;1980118;1980120;1980122;1980124;1980126;1980128;1980130;2156658;2216270;2216272 A006W39;D16S3330;ECD07743;ECD07843;ECD08257;REN60940;REN60941;REN60942;REN60943;REN60944;REN60945;REN60946;REN60947;REN60948;REN60949;REN60950;REN60951;REN60952;REN60953;REN60954;REN60955;REN60956;RH102134;RH46842;stSG635018;stSG635019 DKFZp761H221;FLJ32622;OBTP OTTHUMP00000174797;OTTHUMP00000174798;mitochondrial import receptor subunit TOM6 homolog;over-expressed breast tumor protein;overexpressed breast tumor protein;translocase of outer membrane 6 kDa subunit homolog protein-coding HGNC:34528 VALIDATED 1317904 TOMM7 translocase of outer mitochondrial membrane 7 homolog (yeast) This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012] 7 7 7 p15.3 22837876 22848044 - 22852251 22862471 - 22812632 22822852 - 1580863;6480464;8554872 10647823;10931946;12198123;12477932;12853948;15489334;15644312;18331822;20379614;20877624;21139048;21890473;21906983;21963094;21987572;22939629;23000965;23969696;24250222;24816145;25015289 54543 A6NIV2;B5MD00;Q75MR5;Q9P0U1 AA181858;ABBA01056696;AC005682;AF086336;AF150733;AJ011007;AK026520;AMYH02015350;BC001732;BC071973;CH236948;CH471073;CR456960;NM_019059 AAF67473;AAH01732;AAH71973;AAS01992;CAB38060;CAG33241;EAW93760;EAW93761;EAW93762;EAW93763;NP_061932;Q9P0U1 Hs.112318 1775993;5113271 RH41930;STS-W61113 TOM7 6.2 kd protein;OTTHUMP00000120038;OTTHUMP00000201932;homolog of Tom7;mitochondrial import receptor subunit TOM7 homolog;translocase of outer membrane 7 kDa subunit homolog APPROVED protein-coding ENSG00000196683 HGNC:21648 16266 607980 REVIEWED 1343121 TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) TOMM40 is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for protein import into mitochondria (Humphries et al., 2005 [PubMed 15644312]).[supplied by OMIM, May 2008] 19 19 19 q13 42198820 42211268 + 45394477 45406946 + 44891220 44903689 + 1303948;1580863;6480464;6907045;8554872 10980201 10520737;11745481;12198123;12477932;15342556;15489334;15644312;16495475;17635912;17672918;18095154;18430993;18439552;18823527;19060910;19060911;19125160;19197348;19668339;19734902;19734903;19913121;20029386;20061627;20100581;20370913;20460622;20467438;20628086;20877624;20885792;20932310;21123754;21139048;21418511;21627779;21717124;21720235;21784354;21803501;21820212;21825236;21835183;21890473;21906983;21909109;21943158;21963094;21983493;22005931;22008263;22054870;22089642;22190034;22280891;22359560;22399527;22472643;22596268;22694956;22710912;22832961;22863908;22898894;22939629;22939635;23102119;23182705;23183136;23207651;23234877;23288655;23326517;23419831;23435269;23522842;23546992;23562540;23565137;23626796;23726366;23792692;23844046;24103330;24146538;24149440;24260406;24386095;24468470 10452 K7EJ57;K7EKG4;K7EKG6;O96008 ABBA01040890;ABBA01040891;ABBA01040892;AC011481;AF043250;AF043253;AF050154;AF316398;AF316399;AF316401;AF316402;AMYH02036183;BC001779;BC006413;BC012134;BC017224;BC047528;BP265648;CH471126;NM_001128916;NM_001128917;NM_006114;XM_005258411 AAC82342;AAC82343;AAD02504;AAH01779;AAH06413;AAH12134;AAH17224;AAH47528;AAL46624;AAL46625;AAL46626;AAL46627;ABM83864;ABM87186;EAW57300;EAW57301;EAW57302;EAW57303;EAW57304;EAW57305;NP_001122388;NP_001122389;NP_006105;O96008;XP_005258468 Hs.655909 5016596;5022651 D11S2921;GDB:631802 C19orf1;D19S1177E;PER-EC1;PEREC1;TOM40;p38.5 mitochondrial import receptor subunit TOM40 homolog;mitochondrial outer membrane protein;protein Haymaker;translocase of outer membrane 40 kDa subunit homolog APPROVED protein-coding ENSG00000130204 HGNC:18001 16274 608061 VALIDATED 1316704 TONSL tonsoku-like, DNA repair protein The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 141828598 141844246 - 145654163 145669871 - 144428780 144444488 - 1580863;6480464 11246458;12477932;14702039;15146197;17353931;18029348;20211142;20485444;21055983;21055984;21055985;21113133;21171993;21900206;21906983;21963094;21988832;22407294;22939629;7738005 4796 Q59GI3;Q96HA7 AB209126;ABBA01005205;AC084125;AC233992;AF205589;AJ249601;AK097406;AMYH02019006;BC008782;BF475381;CH471162;CN366457;JB741316;NM_013432;XM_005272321 AAH08782;ABM83620;ABM86863;BAD92363;CAB63467;CDI30207;EAW82092;EAW82093;NP_038460;Q96HA7;XP_005272378 Hs.675285 1769893;5014051;5015619;5020946;5021872;5022200;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;L17971;L18426;RH71203;sY3084 FLJ40087;IKBR;NFKBIL2 I-kappa-B-related protein;NF-kappa-B inhibitor-like protein 2;OTTHUMP00000203177;ikappaBR;inhibitor of kappa B-related protein;nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2;tonsoku-like protein APPROVED protein-coding ENSG00000160949 HGNC:7801 05180 604546 REVIEWED 1343038 TOMM70A translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011] 3 3 3 q12.2 98473164 98511084 - 100082303 100120242 - 100363459 100401398 - 1580863;6480464 10582581;12200962;12477932;12526792;15489334;15644312;16196087;16303743;16822835;16968702;17558393;18029348;18187620;18669640;18781797;18852034;19946888;20504278;20628368;20877624;21139048;21412788;21771790;21781956;21890473;21903422;21906983;22032846;22053931;22280891;22797925;22939629;23000965;23068103;23125841;23472196;23503661;23798571;24149440;24244333;24583282;24816145;9872452 9868 B4DZ87;O94826 AB018262;ABBA01061789;AC093003;AK074951;AK075080;AK075102;AK302796;AMYH02007303;AW044465;BC003633;BC052994;BC065555;CH471052;NM_014820 AAH03633;AAH52994;ABM87423;BAA34439;BAG52062;BAG52067;BAG63999;EAW79822;EAW79823;NP_055635;O94826 Hs.227253 1683894;1691022;2114894;2137165 Bda09a02;RH47396;RH91974;RH94012 FLJ90470 OTTHUMP00000213985;mitochondrial import receptor subunit TOM70;mitochondrial precursor proteins import receptor;translocase of outer membrane 70 kDa subunit;translocase of outer mitochondrial membrane 70 homolog a (yeast) APPROVED protein-coding ENSG00000154174 HGNC:11985 16194 606081 REVIEWED 1345124 TOP1P1 topoisomerase (DNA) I pseudogene 1 INTERACTS WITH dioxygen 1 1 1 q23-q24 144417382 144419812 + 171308035 171310465 + 171338896 171341326 + 6480464 2170234 7151 ABBA01027932;AL031274;AMYH02002136;M55632;NR_002719 Hs.661092;Hs.742633 1770211 RH11097 pseudo HGNC:11987 VALIDATED 1353074 TOP1P2 topoisomerase (DNA) I pseudogene 2 INTERACTS WITH 2-methylcholine; hydrogen peroxide 22 22 22 q11.23 8964933 8966454 + 25160468 25161988 + 24764501 24766021 + 6480464 2170234 7152 ABBA01055153;AMYH02038146;AP000359;M55630;NR_001283 Hs.381281 2130365;5113380 RH27839;WI-18785 pseudo HGNC:11988 PROVISIONAL 1345548 TOP3BP1 topoisomerase (DNA) III beta pseudogene 1 This gene was predicted by automated computational analysis. It encodes a protein with similarity to human topoisomerase (DNA) III beta, which is thought to relax supercoiled DNA upon replication, transcription, and cell division. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008] 22 22 22 q11.22 6395025 6395504 - 22577579 22578058 - 22223186 22223665 - 10591208;9074928 23751 ABBA01055082;AC245060;D86996;NG_000002 TOP3B2 APPROVED pseudo HGNC:11994 REVIEWED 1351494 TOP1MT topoisomerase (DNA) I, mitochondrial This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 8 8 8 q24.3 140700651 140727260 - 144391494 144442147 - 143309324 143359979 - 1323841;737633;1580863;6480464 11526219;12477932 15096574;15196694;16712791;17161897;18029348;18063578;18781797;18826252;19720733;20453000;20843780;20877624;21531700;23261817;23422507;24172750;24250222;24654937 116447 B4DYD2;E5KMK7;E5RFE3;E5RFS0;E5RGE7;E5RGR2;E5RGR4;E5RIC7;E5RJ33;E5RJ95;H0YAR3;H0YBR3;H0YC03;Q969P6 ABBA01005260;ABBA01005261;ABBA01090186;AC087793;AF349017;AF349018;AF349019;AF349020;AF349021;AF349022;AF349023;AF349024;AF349025;AF349026;AF349027;AF349028;AF349029;AF349030;AF349031;AK302372;AK303237;AK308475;AK309005;AK311647;AK315913;AK316380;AMYH02018938;AW248607;BC027453;BC044646;BC052285;BC071914;CB149603;CH471162;DC375680;DC399840;HQ204988;HQ204989;HQ204990;HQ204992;HQ204997;HQ204998;HQ204999;HQ205000;HQ205001;HQ205002;HQ205005;HQ205006;HQ205007;HQ205008;HQ205009;HQ205011;HQ205012;HQ205014;HQ205015;HQ205016;HQ205017;HQ205018;HQ205020;HQ205023;KC877378;NM_001258446;NM_001258447;NM_052963;XM_005250780;XM_005250781;XM_005250782 AAH27453;AAH44646;AAH52285;AAH71914;AAL05624;AAL10791;ADP90416;ADP90417;ADP90418;ADP90420;ADP90425;ADP90426;ADP90427;ADP90428;ADP90429;ADP90430;ADP90433;ADP90434;ADP90435;ADP90436;ADP90437;ADP90439;ADP90440;ADP90442;ADP90443;ADP90444;ADP90445;ADP90446;ADP90448;ADP90451;BAG63694;BAG64323;BAH14284;BAH14751;EAW82259;EAW82260;EAW82261;EAW82262;EAW82263;EAW82264;EAW82265;EAW82266;NP_001245375;NP_001245376;NP_443195;Q969P6;XP_005250837;XP_005250838;XP_005250839 Hs.528574 1664938;1684554 RH65208;RH80170 DNA topoisomerase I, mitochondrial;OTTHUMP00000228063;OTTHUMP00000228064;OTTHUMP00000228103;OTTHUMP00000228104;mitochondrial DNA topoisomerase I;mitochondrial topoisomerase IB APPROVED protein-coding ENSG00000184428 HGNC:29787 16214 606387 REVIEWED 2311615 TOPAZ1 testis and ovary specific PAZ domain containing 1 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH thioacetamide (ortholog) 3 3 3 p21.31 44221424 44311638 + 44283378 44373590 + 44241886 44332098 + 6480464;8554872 14702039;21282530;22069478;23382691 375337 Q8N9V7 ABBA01024749;ABBA01024750;ABBA01024751;AC104187;AK093476;AMYH02006645;BX648094;HC044769;NM_001145030 BAC04180;CBH30714;NP_001138502;Q8N9V7 Hs.132125 2148855 D3S4128 C3orf77;FLJ36157 OTTHUMP00000209293;hypothetical protein LOC375337;testis and ovary-specific PAZ domain gene 1;testis- and ovary-specific PAZ domain-containing protein 1;topaz 1;uncharacterized protein C3orf77 APPROVED protein-coding ENSG00000173769 HGNC:24746 614412 VALIDATED 1352729 TOP2A topoisomerase (DNA) II alpha 170kDa This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010] 17 17 17 q21-q22 35204916 35234352 - 38544773 38574202 - 40388521 40417950 - 1580863;2315132;2315120;2315124;2315125;2315126;2315131;2315122;2315127;2315128;2315129;2315130;2315121;2315133;6480464 11070118;12438255;16556665;18347174;18465341;18489530;18702822;19051821;19270648;19347305;19539329;19913893;19996222 10095062;10207078;10393912;10465010;10473615;10646863;10666337;10788521;10862613;10942766;10959840;11062478;11101529;11111056;11136718;11444988;11574892;11790298;11799067;11862483;11927602;11940566;11940573;11958416;12001123;12014628;12078518;12079377;12237772;12356743;12393188;12429798;12429800;12429910;12477932;12480934;12569090;12646164;12646941;12691917;12711669;12821127;12832072;12859955;1309226;1373318;14566826;14596941;14632727;14702039;14759373;14978217;14989736;14991576;14996935;15034300;15037624;15044480;15126503;15182198;15201855;15302935;15375522;15456904;15491148;15504738;15602006;15635413;15809708;15899781;15965487;16009940;16053917;16091284;16114891;16139951;16188892;16213649;16230076;16234514;16236267;16271071;16344560;16507781;1652758;16533424;16533774;16565220;16611985;16682295;16712776;16864174;16914642;16964243;16990717;17072627;17081983;17182034;17212588;17289897;17314511;17361331;17388661;17410335;17453369;17512033;17526531;17567603;17607373;17636313;17717428;17922046;17956945;17983804;17998154;18029348;18045852;18062778;18162055;18162579;18171681;18204862;18247557;18332872;18347177;18381449;18394993;18402387;18520795;18544048;18596031;18632987;18653531;18781797;18790802;18815879;18824478;18824850;18927283;19003983;19019771;19053267;19061514;19074885;19080257;19098900;19111388;19185918;19222228;19223331;19321449;19329795;19394292;19401546;19428368;19454010;19458360;19471022;19485418;19582575;19596686;19620488;19661031;19661040;19670699;19695223;19697956;19713842;19729798;19738201;19885609;19886180;19945923;19956605;19956635;20021828;20029472;20079182;20085707;20089371;20130985;20170164;20184667;20194637;20360068;20369487;20422488;20441774;20497003;20504901;20557373;20655466;20688355;20697251;20709174;20797634;20800603;20813715;20824055;21062978;21067592;21126478;21139048;21145461;21182205;21189395;21229879;21252292;21252943;21254166;21288332;21435434;21450455;21455636;21461646;21506336;21519837;21549307;21595939;21614903;21629784;21667123;21681601;21693764;21705665;21734419;21761866;21768308;21875466;21878638;21880040;21890473;21906983;21917518;21963094;21987572;22076611;22111588;22113938;22153616;22160858;22168383;22178446;22190034;22203181;22240029;22281973;22300273;22323612;22374418;22375014;22412018;22426810;22452920;22496876;22505724;22555090;22563370;22569122;22623428;22672768;22679013;22706628;22730815;22841979;22864769;22871798;22939629;23000965;23020778;23135572;23163762;23214297;23349762;23388101;23398928;23399433;23473851;23508957;23533247;23698369;23850692;23860238;23897556;23900272;23956975;24130054;24135250;24138107;24244448;24327541;24332808;24349352;24403186;24476913;24658003;24675496;24695359;24778252;24816145;24919264;25027693;2556712;2836804;2845399;6267071;7499337;7585537;7635160;7961967;7980433;8166723;8387155;8393377;8710863;8939955;9049244;9795238;9804834 7153 J3KTB7;J3QR57;P11388 ABBA01031828;ABBA01031829;AC080112;AF064590;AF069522;AF071738;AF071739;AF071740;AF071741;AF071742;AF071743;AF071744;AF071745;AF071746;AF071747;AF285157;AF285158;AF285159;AJ011741;AK024080;AMYH02033398;BC013429;BC062677;BC140791;CH471152;DB069825;J04088;KC877654;L47276;L47277;NG_027678;NM_001067;XM_005257632 AAA61209;AAC16736;AAC23518;AAC77388;AAG13403;AAG13404;AAG13405;AAI40792;CAA09762;EAW60661;EAW60662;EAW60663;NP_001058;P11388;XP_005257689 Hs.156346 1653817;1655897;1733454;1741369;1777260;2118670;2186735;5109557 D17S1230;D17S1435E;GDB:180937;L17787;RH12872;RH17658;SHGC-12497;SHGC-31685 TOP2;TP2A DNA gyrase;DNA topoisomerase (ATP-hydrolyzing);DNA topoisomerase 2-alpha;DNA topoisomerase II, 170 kD;DNA topoisomerase II, alpha isozyme;OTTHUMP00000207108 APPROVED protein-coding ENSG00000131747 HGNC:11989 00536 126430 REVIEWED 1319604 TOP3A topoisomerase (DNA) III alpha This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. [provided by RefSeq, Jul 2008] 17 17 17 p12-p11.2 19118328 19159392 - 18177235 18218321 - 18273921 18315007 - 1580863;6480464;6907045;8554872 10352172;10710432;10728666;10734115;10739669;10825162;10945498;11406610;11470874;11997338;12209014;12433984;12477932;12724401;12973351;15489334;15775963;16116422;16546998;16595695;17728255;18390547;18418389;19432957;19742304;20064461;20347429;20360068;20445207;20843780;21240188;21890473;22050635;22145905;22672768;22705371;22939629;24108125;24239288;24332808;24816145;8622991;9114025;9748294 7156 B4DSJ0;J3KRR9;J3KS96;J3QR18;J3QS25;K7EJ41;K7EL07;K7ELI7;K7EMT6;Q13472 ABBA01009733;ABBA01009734;ABBA01009735;ABBA01009736;AC127537;AF026813;AF086042;AK126869;AK290513;AK292926;AK296437;AK299764;AK311668;AMYH02033113;AMYH02033114;BC051748;BM462184;CH471196;HQ205026;HQ205027;HQ205028;HQ205029;HQ205030;HQ205031;HQ205032;HQ205033;HQ205034;HQ205035;HQ205036;HQ205037;HQ205038;HQ205039;HQ205040;HQ205041;HQ205042;HQ205043;HQ205044;HQ205045;HQ205046;HQ205047;HQ205048;HQ205049;HQ205050;HQ205051;HQ205052;HQ205053;HQ205054;HQ205055;HQ205056;HQ205057;HQ205058;HQ205059;HQ205060;HQ205061;HQ205062;HQ205063;HQ205064;HQ205065;NM_004618;U43431;XM_005256776;XM_005256777 AAB03694;AAB03695;AAH51748;ADP90454;ADP90455;ADP90456;ADP90457;ADP90458;ADP90459;ADP90460;ADP90461;ADP90462;ADP90463;ADP90464;ADP90465;ADP90466;ADP90467;ADP90468;ADP90469;ADP90470;ADP90471;ADP90472;ADP90473;ADP90474;ADP90475;ADP90476;ADP90477;ADP90478;ADP90479;ADP90480;ADP90481;ADP90482;ADP90483;ADP90484;ADP90485;ADP90486;ADP90487;ADP90488;ADP90489;ADP90490;ADP90491;ADP90492;ADP90493;BAF83202;BAF85615;BAG54385;BAG59092;BAG61652;EAW55646;EAW55647;EAW55648;EAW55649;NP_004609;Q13472;XP_005256833;XP_005256834 Hs.592115 1681219;1705204;1721967;2218620;5037552;5118576 D11S3430;D8S2279;G59869;RH47004;SHGC-80056;TOP3A__3878 TOP3;ZGRF7 DNA topoisomerase 3-alpha;DNA topoisomerase III alpha;OTTHUMP00000065693;topo III-alpha;zinc finger, GRF-type containing 7 APPROVED protein-coding ENSG00000177302 HGNC:11992 03145 601243 REVIEWED 1350637 TOP2B topoisomerase (DNA) II beta 180kDa This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing of this gene results in two transcript variants; however, the second variant has not yet been fully described. [provided by RefSeq, Jul 2008] 3 3 3 p24 25576353 25642666 - 25639396 25706396 - 25597905 25664905 - 1580863;6480464 10095062;10473615;10666337;10684600;10862613;10879730;11062478;11136718;11395412;11710515;11790298;11927602;12105221;12197834;12393188;12477932;12629207;12821127;1309226;1333583;14596941;14723357;14996935;15044480;15161980;15302935;15561718;15635413;15680922;16091284;16159877;16502015;16565220;16611985;16712776;16794079;16932348;16969495;17081983;17182034;17209120;17361331;17526531;17567603;18029348;18212063;18247557;18394993;19181665;19222228;19303849;19394292;19471022;19596686;19902255;19913121;20201926;20360068;20628086;20800603;20882068;21110914;21139048;21145461;21182205;21252943;21280220;21542140;2163884;21693764;21793937;21890473;21906983;21963094;22111588;22178446;22505724;22751105;22939629;23000965;23022380;23399433;23696245;23938298;24326092;24332808;24591637;24766193;24778252;24816145;25027693;2556712;8383537;8396237;8626450;8710863;9049244;9155018;9426241;9461304;9743583;9795238 7155 B4DLV2;E9PCY5;H7BZ82;Q02880;Q59H80 AB208879;ABBA01025019;ABBA01025020;AC093416;AJ011721;AK296510;AK297171;AK307450;AK316492;AMYH02006423;BC021863;BC054482;BF514624;BM150930;CH471055;M27504;NM_001068;U54831;U65315;U96765;X53662;X68060;X71911;XM_005265427;XR_427287;Z15111;Z15115 AAA61210;AAB01982;AAB54121;AAB95437;AAH21863;AAI56331;AAI57119;BAD92116;BAG59142;BAG59664;BAH14863;CAA09753;CAA37706;CAA48197;CAA50726;CAA78815;CAA78821;EAW64357;EAW64358;EAW64359;NP_001059;Q02880;XP_005265484 Hs.475733 2112638;2133536;2152804;2191461;2218106 D3S3335;D3S4380;MARC_23644-23645:1029443453:1;SGC31578;TOP2B_3877 TOPIIB;top2beta DNA topoisomerase 2-beta;DNA topoisomerase II beta;DNA topoisomerase II, 180 kD;DNA topoisomerase II, beta isozyme;OTTHUMP00000208317;OTTHUMP00000208318;U937 associated antigen;antigen MLAA-44;topo II beta;topoisomerase II beta;topoisomerase IIb APPROVED protein-coding ENSG00000077097 HGNC:11990 00537 126431 REVIEWED 8550904 TOPORSLP topoisomerase I binding, arginine/serine-rich like, pseudogene 9 9 9 q31.1 77542509 77544118 + 107037603 107039212 + 104275322 104276931 + 347281 ABBA01042837;AL354938;AMYH02021376;NG_021672 pseudo HGNC:50276 INFERRED 1625806 TOPORS-AS1 TOPORS antisense RNA 1 9 9 9 p21.1 32482348 32484221 + 32551142 32566858 + 32551144 32566860 + 16344560;22610502 100129250 ABBA01065079;AL353671;AMYH02019410;BI916035;CB048380;DA702677;DA753662;HG501958;HG501959;HG501960;HG501961;HY032383;NR_033991;NR_033992;NR_102376;NR_102377 Hs.664395 1688154 RH98974 C9orf133 chromosome 9 open reading frame 133 APPROVED ncrna ENSG00000235453 HGNC:31420 VALIDATED 1345813 TOR1A torsin family 1, member A (torsin A) The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008] 9 9 9 q34 103226256 103237469 - 132575221 132586441 - 129812942 129824162 - 6480464;7240710;8554872;8699517 10435508;10541594;10640617;10644435;10814722;10871631;11337467;11405807;11438481;11523564;11584049;11757956;11921134;11940688;11973627;12007841;12098639;12391355;12402271;12477932;12481989;12609485;12760408;12780349;12838525;12965225;12975293;14581671;14615676;14690443;14702039;14711988;14743361;14872019;14970196;15028751;15099679;15111678;15147511;15164053;15177405;15293281;15326234;15359520;15455404;15465399;15489334;15505207;15555920;15679701;15767459;15781971;15939081;16198613;16275837;16303743;16361107;16366514;16537570;16631205;16911351;16934985;17027035;17037984;17066475;17130424;17200151;17290457;17353931;17428918;17503336;17539945;17550429;17601741;18167355;18212280;18224570;18258738;18299128;18322712;18437909;18477710;18477841;18519876;18550799;18552369;18571468;18823049;18827015;18940237;19038309;19066193;19199708;19202559;19214438;19260107;19284587;19322201;19339278;19344776;19380705;19441135;19528516;19535332;19651773;19665049;20000738;20113340;20298201;20301334;20301665;20584926;20590813;20669276;20825472;20861018;20865765;20925076;20976771;21102408;21139048;21161590;21241782;21322026;21515903;21636841;21750546;21775450;21785409;21906983;22054283;22172551;22190034;22226333;22487959;22622408;22770546;22917612;22933784;22987473;23058565;23107556;23405979;23460578;23569223;23782819;24627482;8324822;9288096;9585364;9750906 1861 B3KPA1;O14656 ABBA01043951;AF007871;AK056062;AK075343;AK130769;AK294677;AK314505;AL158207;AMYH02021745;AMYH02021746;AU098588;BC000674;BC014484;BT006931;BU790507;CH471090;NG_008049;NM_000113 AAC51732;AAH00674;AAH14484;AAP35577;ABM83583;ABM86823;BAG37105;BAG51613;BAG57840;EAW87907;EAW87908;NP_000104;O14656 Hs.534312 1660918;1701596;1722263;5015961;5037552 D15S1477;D8S2279;G60041;RH104434;SHGC-36186 DQ2;DYT1 OTTHUMP00000022349;dystonia 1 protein;dystonia 1, torsion (autosomal dominant, torsin A);dystonia 1, torsion (autosomal dominant; torsin A);torsin ATPase 1;torsin ATPase-1A;torsin family 1 member A;torsin-1A APPROVED protein-coding ENSG00000136827 HGNC:3098 06897 128100;605204 REVIEWED 1607052 TOR1AIP1 torsin A interacting protein 1 This gene encodes a type 2 integral membrane protein that binds A- and B-type laminins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 1 1 1 q24.2 152959025 152996742 + 179851177 179889212 + 179882042 179920077 + 6480464 12061773;12477932;14702039;15146197;15489334;15767459;16248985;16361107;16710414;17081983;19322201;19382019;19454010;19651773;20360068;20861018;21044950;21139048;21890473;21906983;21963094;22321011;22365922;22412018;22751105;22939629;23000965;23080069;23569223;24116158;24583282;24816145;8324822;9305626 26092 H0Y4R4;H0YD16;H0YDJ8;H0YDU3;J3KN66;Q5JTV8 ABBA01027804;ABBA01027805;AK001780;AK021613;AK023204;AK291495;AK310012;AL050126;AL353708;AL598529;AMYH02002238;AW298193;BC023247;BQ435161;BX369105;CH471067;CN360425;NM_001267578;NM_015602 AAH23247;ADZ15756;BAA91906;BAB13855;BAB14461;BAF84184;CAB43282;EAW91067;EAW91068;NP_001254507;NP_056417;Q5JTV8 Hs.496459 1684337;1770131;2168327;5037552 D8S2279;RH98531;SHGC-57100;SHGC-75997 DKFZp586G011;FLJ13142;LAP1;LAP1B;MGC3413;RP11-533E19.1 OTTHUMP00000033190;OTTHUMP00000039113;OTTHUMP00000235142;OTTHUMP00000235143;lamin-associated protein 1B;lamina associated polypeptide 1B;lamina-associated polypeptide 1B;torsin-1A-interacting protein 1 APPROVED protein-coding ENSG00000143337 HGNC:29456 13958 614512 REVIEWED 1318195 TOR1B torsin family 1, member B (torsin B) ENCODES a protein that exhibits ATPase activity; INVOLVED IN ATP catabolic process; endoplasmic reticulum organization; protein homooligomerization; FOUND IN endoplasmic reticulum; endoplasmic reticulum lumen; extracellular vesicular exosome; INTERACTS WITH all-trans-retinoic acid; atrazine; benzene 9 9 9 q34 103216467 103224595 + 132565428 132573563 + 129803149 129811284 + 1580863;6480464 10644435;12477932;15147511;15164053;15489334;16938275;17130424;19199708;20000738;20669276;22268729;24275647;9288096 27348 H0Y7C8;O14657 ABBA01043950;ABBA01043951;AF007872;AF317129;AL158207;AMYH02021745;BC006480;BC015578;CH471090;NM_014506;XM_005251927 AAC51733;AAG50271;AAH06480;AAH15578;ABM84130;ABM84131;ABM84622;ABM87531;ABM87532;ABM87866;EAW87906;NP_055321;O14657;XP_005251984 Hs.252682 1651111;1657281;1858370 D9S983E;SGC31170;SGC31770 DQ1;MGC4386 OTTHUMP00000022350;torsin ATPase-1B;torsin family 1 member B;torsin-1B protein-coding ENSG00000136816 HGNC:11995 16270 608050 PROVISIONAL 1321299 TOPBP1 topoisomerase (DNA) II binding protein 1 This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008] 3 3 3 q22.1 131746550 131807847 - 133319449 133380762 - 133600605 133661918 - 1580863;6480464;8554872 10498869;10931686;11395493;11714696;11756551;11934899;12408820;12421765;12477932;12697828;12773567;12810625;12941802;14576432;14576433;15075294;15138768;15188402;15195143;15635413;15961388;16314514;16391231;16530042;16831524;16880517;16930991;16964243;16984230;17006541;17287259;17293600;17448016;17575048;17616665;17643375;17686975;17765870;17887956;17913746;18006695;18519640;18923429;19023333;19084217;19097996;19164952;19177012;19289498;19471022;19505873;19584272;19690177;19766185;20029092;20056645;20065034;20159562;20360068;20413589;20545769;20566845;20571081;20724438;20858457;21108795;21127055;21139048;21149450;21291884;21382349;21482717;21502314;21700459;21890473;21930790;22213094;22544570;22708334;22925454;22939629;22973044;23277395;23383325;23685152;23819404;23891287;23901102;23908141;24081328;24239288;24702692;24816145;9039502;9461304 11073 A0AV47;A7E2X7;H0Y8I7;I3L1F2;Q05BV8;Q92547 AB019397;ABBA01059164;ABBA01059165;ABBA01059166;AC016255;AC083905;AK026229;AK302584;AMYH02007707;BC017552;BC032633;BC126209;BC151237;CH471052;D87448;NM_007027;XM_005247076;Y18557 AAH32633;AAI26210;AAI51238;BAA13389;BAA34202;BAH13754;EAW79173;EAW79174;EAW79175;NP_008958;Q92547;XP_005247133 Hs.593379 1661575;2107701;2157634;2157636;5017376 A006B05;G20668;SHGC-31992;SHGC-57698;TOPBP1__5117 TOP2BP1 DNA topoisomerase 2-binding protein 1;DNA topoisomerase II-beta-binding protein 1;DNA topoisomerase II-binding protein 1;OTTHUMP00000216435 APPROVED protein-coding ENSG00000163781 HGNC:17008 09678 607760 REVIEWED 1313199 TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010] 9 9 9 p21 32471749 32483828 - 32540542 32552626 - 32540544 32552628 - 1580863;6480464;7240710;8699517;8554872 10352183;10415337;11278651;11842245;12083797;12477932;12878157;14516784;15107820;15164053;15231748;15247280;15302935;15364129;15489334;15699047;15735665;16122737;16189705;16344560;16455055;16524884;16679534;17081983;17290218;17803295;17924349;17976381;18077445;18408014;18509552;18775313;19053840;19183411;19373681;19471022;19473992;19690564;19821153;20188669;20301590;20351170;20379614;20805487;21139048;21159800;21252943;21624951;21693764;21890473;21906983;21963094;21987572;22505724;22610502;22972498;23000965;24250222;24529480;8889548 10210 Q9NS56 AB045732;AB045733;ABBA01065079;ABBA01065080;AF098300;AF241192;AI934577;AL353671;AMYH02019410;AU280552;AV712580;BC060884;BJ993131;BQ007035;BU674865;CH471071;DA238762;NG_017050;NM_001195622;NM_005802;U82939 AAC98530;AAD23379;AAH60884;AAK12843;BAB03714;BAB03715;EAW58546;NP_001182551;NP_005793;Q9NS56 Hs.589962 1682363;1683537;1688154;1771454;2166815;2173864 G30177;RH68036;RH81057;RH93565;RH98974;STS-H04756 LUN;P53BP3;RP31;TP53BPL E3 ubiquitin-protein ligase Topors;OTTHUMP00000021182;OTTHUMP00000021183;SUMO1-protein E3 ligase Topors;topoisomerase I binding protein;topoisomerase I-binding RING finger protein;tumor suppressor p53-binding protein 3 APPROVED protein-coding ENSG00000197579 HGNC:21653 11642 609507;609923 REVIEWED 1319825 TOP3B topoisomerase (DNA) III beta This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013] 22 22 22 q11.22 6128944 6154663 - 22311397 22337219 - 21955493 21982843 - 1580863;6480464;6907045 10710432;11549288;12477932;14702039;15231747;15358519;15461802;15489334;16189514;16344560;18854154;20950730;21139048;21890473;21906983;22678362;23891004;24239288;24507716;24778252;8619474;9074928;9110174;9786843;9927731 8940 A8K4N2;C9J9X4;C9JEI7;C9JEQ1;C9JF56;C9JHR0;C9JKE2;C9JT00;C9JTQ7;F2Z2A5;H0Y6W0;H7C4B0;O95985 ABBA01055075;AC245452;AF017146;AF053082;AF125216;AK096695;AK290997;AK304681;AK304709;AL833505;BC002432;BQ270362;CH471095;CR456596;D87012;DA025312;NM_001282112;NM_001282113;NM_003935;XM_005261811;XM_005261813;XM_005261814;XM_006724349;XM_006724350;XM_006724351;XM_006724352;XR_244395;XR_244396 AAD01614;AAD15791;AAD29670;AAH02432;BAA20009;BAF83686;BAG53351;BAG65452;BAG65474;CAG30482;CAK54627;CAK54926;EAW59487;EAW59488;EAW59489;EAW59490;EAW59491;NP_001269041;NP_001269042;NP_003926;O95985;XP_005261868;XP_005261870;XP_005261871;XP_006724412;XP_006724413;XP_006724414;XP_006724415 Hs.436401 FLJ39376;TOP3B1 DNA topoisomerase 3-beta-1;DNA topoisomerase III beta-1;OTTHUMP00000198579;OTTHUMP00000198581;OTTHUMP00000198584;topoisomerase III beta APPROVED protein-coding ENSG00000100038 HGNC:11993 04662 603582 REVIEWED 1606545 TOR4A torsin family 4, member A ENCODES a protein that exhibits ATP binding (inferred); INVOLVED IN chaperone mediated protein folding requiring cofactor (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; hydroquinone O-beta-D-glucopyranoside 9 9 9 q34.3 110688979 110692947 + 140172280 140177093 + 137277828 137282641 + 6480464 14702039;21890473;21906983;21987572;22952844;23956138;24654937 54863 Q9NXH8 ABBA01022752;ABBA01022753;AK000252;AK000392;AK023361;AMYH02021928;BX255925;NM_017723 AAI69268;AAI69269;AAI69270;AAI69271;BAA91032;NP_060193;Q9NXH8 Hs.495541 5022578 D1S1423 C9orf167;FLJ20245;RP13-122B23.4 OTTHUMP00000162586;torsin family 4 member A;torsin family protein C9orf167;torsin-4A APPROVED protein-coding ENSG00000198113 HGNC:25981 07886 VALIDATED 1320812 TOR3A torsin family 3, member A ENCODES a protein that exhibits ATPase activity; INVOLVED IN ATP catabolic process; FOUND IN endoplasmic reticulum; endoplasmic reticulum lumen; extracellular vesicular exosome; INTERACTS WITH (+)-catechin; aflatoxin B1; copper atom 1 1 1 q25.2 152159972 152173981 + 179050415 179067158 + 179081977 179095996 + 1580863;6480464 10644435;11863361;12477932;14702039;15489334;16344560;16710414;17207965;19199708;19651773;20237496;20379614;21906983;21963094 64222 F2Z3J4;Q5W0C6;Q5W0C9;Q9H497 ABBA01027824;AJ299403;AJ299441;AJ318044;AK025998;AK130132;AK299966;AK316530;AL139132;AMYH02002228;BC001085;BC007571;BC011746;BC018292;BC088368;CH471067;CR457354;DA942161;NM_022371;XM_006711485 AAH01085;AAH07571;AAH11746;AAH18292;AAH88368;ADQ32170;BAB15312;BAG61792;BAH14901;CAC13973;CAC14461;CAC88129;CAC88130;CAG33635;EAW91037;EAW91038;EAW91039;NP_071766;Q9H497;XP_006711548 Hs.584957 ADIR;ADIR2;FLJ22345;MGC111104 ATP-dependant interferon response protein 1;ATP-dependant interferon responsive;ATP-dependent interferon-responsive protein;OTTHUMP00000033051;OTTHUMP00000033052;torsin-3A protein-coding HGNC:11997 09615 607555 VALIDATED 1604221 TOR1AIP2 torsin A interacting protein 2 ENCODES a protein that exhibits ATPase activator activity; ATPase binding; INVOLVED IN endoplasmic reticulum organization; positive regulation of ATPase activity; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH 17beta-estradiol; aflatoxin B1; calcitriol 1 1 1 q25.2 152920678 152954553 - 179809102 179847867 - 179839967 179877806 - 6480464;8554872 11181995;12477932;14702039;15342556;15489334;15767459;16710414;16964240;19295130;19339278;19615732;19651773;20861018;21139048;21145461;21890473;21906983;21963094;22190034;22268729;23443559;23569223 163590 Q8NFQ8;Q9H496 ABBA01027805;AF464140;AJ299406;AK002036;AK057623;AK289793;AL359853;AMYH02002238;BC032790;BC094724;BC096704;BC098170;BC098309;BC098348;BC101532;BC112225;BP222544;CH471067;NM_001199260;NM_022347;NM_145034;XM_005244939 AAH32790;AAH96704;AAH98170;AAH98309;AAH98348;AAI01533;AAI12226;AAM50514;ADR83182;BAF82482;CAC13974;EAW91058;EAW91059;EAW91060;EAW91061;EAW91062;EAW91063;EAW91065;NP_001186189;NP_071742;NP_659471;Q8NFQ8;Q9H496;XP_005244996 Hs.571797;Hs.723247 1684886;1685658;1690037;1692550;1698218;1704318;1858187;2220554;5014039;5014063;5015961;5016478;5016851;5017266;5019070;5020740;5020881;5022200;5022578;5022651;5024272;5037552;5118444 AL034051;D11S2921;D11S3316;D15S1390;D15S1477;D1S1423;D22S1584;D2S1254;D8S2279;G44334;GDB:434012;L17709;L17809;L18426;L18506;RH102645;RH80031;RH80416;RH98901;SHGC-52567;SHGC-75990;SHGC-83301;UniSTS:484730 FLJ77012;IFRG15;LULL1;MGC120074;MGC120075;MGC120076;MGC120077;MGC126581;MGC138430;NET9;RP11-12M5.5 OTTHUMP00000033196;interferon alpha responsive protein;interferon responsive gene 15;lumenal domain like LAP1;lumenal domain-like LAP1;torsin-1A-interacting protein 2 protein-coding ENSG00000169905 HGNC:24055 10048 614513 VALIDATED 1345727 TOR2A torsin family 2, member A This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Oct 2011] 9 9 9 q34.11 101144673 101148474 - 130493803 130497628 - 127731524 127735349 - 6480464 10644435;12477932;12910263;12975309;14702039;15146197;15164053;15489334;16303743;16341674;16344560;16697365;18187620;18497465;18804130;19540434;19660505;19761814;20176058;20346378;20684826;21185876;21476293;22533552;22827297;22884920;24098553;24654937;8889548;9288096 27433 Q5JU69;Q8N2E6 ABBA01043842;AK027677;AK055034;AK075520;AK092388;AL162426;AMYH02021695;AY358180;BC022985;BC062340;BC080527;BC100907;BC100908;BC100909;BC100910;BF115698;BM695589;BM772287;CH471090;CN263138;CS051357;CS070695;DA430836;DB168410;NG_030463;NM_001085347;NM_001134430;NM_001134431;NM_001252018;NM_001252021;NM_001252023;NM_130459;XR_428523 AAH62340;AAH80527;AAI00908;AAI00909;AAI00910;AAI00911;AAI56123;AAI56919;AAI60144;AAQ88547;BAB55288;BAC11667;CAI72173;CAI93200;EAW87690;EAW87691;EAW87692;EAW87693;EAW87694;NP_001078816;NP_001127902;NP_001127903;NP_001238947;NP_001238950;NP_001238952;NP_569726;Q5JU69;Q8N2E6 Hs.444106 2109831;2175178 SH2D3C_9032;WI-15876 FLJ14771;MGC99558;TORP1 OTTHUMP00000022189;OTTHUMP00000022190;OTTHUMP00000022191;prosalusin;torsin-2A;torsin-related protein 1 APPROVED protein-coding ENSG00000160404 HGNC:11996 16271 608052 REVIEWED 1323035 TOX3 TOX high mobility group box family member 3 The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009] 16 16 16 q12.1 36987398 37097166 - 52471682 52581714 - 52437770 52547802 - 1580863;6480464;8554872 12697058;14702039;17529967;17529974;17997823;18355772;18437204;19094228;19232126;19330030;19617217;19789366;19843670;19856316;20054709;20145138;20213080;20237344;20332101;20379614;20406955;20417875;20453838;20467438;20502973;20585626;20605201;20664043;20703937;20872241;21172805;21263130;21779176;22496870;22885925;23001122;23001124;23021931;23110726;23270421;23447579;23468243;23535729;23535733;24069142;24069272;24143190;24446301;9225980 27324 H3BTZ9;J3QQQ6;O15405 ABBA01066474;ABBA01066475;ABBA01066476;AC007490;AC093514;AK025084;AK027006;AK095095;AK299202;AMYH02032031;AMYH02032032;AMYH02032033;BE501808;CH471092;NG_012623;NM_001080430;NM_001146188;U80736;XM_005255892;XM_005255893 AAB91435;AAI67799;BAG61242;EAW82787;NP_001073899;NP_001139660;O15405;XP_005255949;XP_005255950 Hs.460789 1725027;1738535;1764695;1780090;1780424;2143074 D16S2712;D16S470E;D16S783;RH118810;SHGC-148286;SHGC-154410 CAGF9;TNRC9 CAG trinucleotide repeat-containing gene F9 protein;trinucleotide repeat containing 9;trinucleotide repeat-containing gene 9 protein APPROVED protein-coding ENSG00000103460 HGNC:11972 611416 REVIEWED 1605410 TOX thymocyte selection-associated high mobility group box The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009] 8 8 8 q12.1 55710971 56023242 - 59717977 60031767 - 58805418 59119208 - 6480464;8554872 11850626;12168954;12477932;12697058;14702039;15078895;15489334;17529974;17918249;17975119;18195075;19023099;19734545;20379614;21126536;22496870;22589738;23396134;23415668;9872452 9760 B4DYA1;O94900 AB018351;ABBA01041791;ABBA01041792;ABBA01041793;ABBA01041794;AC090152;AC091195;AC105150;AK000971;AK302331;AMYH02018035;AMYH02018036;AMYH02018037;AMYH02018038;AMYH02018039;AMYH02018040;BC016665;BX647462;CA439630;CH471068;NG_011993;NM_014729 AAH16665;ABM82591;ABM85778;BAA34528;BAG50841;BAG63663;EAW86818;EAW86819;NP_055544;O94900 Hs.491805;Hs.634856 1646908;1672263;1688217;1689524;1697580;1715675;1726483;1739109;1739111;1857422;2109991;2147629;2153281;2153875;2173696;2175675;2181692 D8S1536;D8S1537;D8S1658;D8S2115;G10593;G62621;RH102300;RH119283;RH11975;RH45962;RH47449;RH92770;RH99181;SHGC-34748;TOX__1212;WI-14705;WI-20692 KIAA0808;TOX1 OTTHUMP00000226471;thymocyte selection-associated high mobility group box protein TOX;thymus high mobility group box protein TOX APPROVED protein-coding ENSG00000198846 HGNC:18988 12113 606863 REVIEWED 733198 TOP1 topoisomerase (DNA) I This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008] 20 20 20 q12-q13.1 36368028 36463696 + 39657462 39753127 + 41028822 41124487 + 1580863;6480464 10352183;10468612;10556215;10759568;10792988;10841763;10967121;11001406;11016921;11254741;11709553;11749700;11780052;11790298;11805286;11809893;11818025;11832494;11844605;12004060;12051740;12097280;12119295;12149243;12209008;12209444;12237772;12270136;12270705;12426403;12439742;12477932;12519782;12549820;12618186;12634843;12673200;12708316;12711735;12723479;12777385;12829794;12878161;12904303;1332703;1339303;13679149;14594810;14654701;14688260;14706652;14729676;14741206;14961077;15010314;15014084;15064750;15100157;15147201;15178684;15196694;15247263;15351405;15361825;15576338;15635413;15640154;15680922;15830206;15848144;15850773;15923621;15944452;16127745;16196087;16226712;16314322;16407974;16415033;16428803;16537084;16799632;16819839;16930551;17101150;17148452;17158748;17172417;17234752;17314511;17355975;17434318;17439970;17481653;17490723;17656417;17706468;17765665;17827209;17976381;18003733;18029348;18054778;18089815;18162579;18215123;18408216;1849260;18495665;18515798;1851751;18553933;18556653;18588899;18676842;18693244;18713021;18765473;18772225;18826252;18855534;19083133;19173801;19232127;19336913;19380834;19435923;19452556;19471022;19494003;19596686;19604089;19639183;19666469;19710015;19738201;19740104;19850743;19883377;19916945;19952118;20020773;20186120;20215517;20465595;20504901;20639865;20682265;20686565;20805487;20855291;20875401;20944095;21046176;21081666;21092135;21139048;21145461;21182205;21182307;21229879;21319273;21504738;21542140;21619602;21628532;21679440;21693764;2174357;2176592;21827649;21832049;21890473;21903422;21906983;21907836;21922105;21953548;21987572;21994574;22080610;22158865;22171973;22178446;22344449;22375014;22505724;22586326;22623428;22672768;22751105;22939629;22991469;23000965;23085462;23101460;23151878;23214297;23349762;23368812;23383273;23455922;23577133;23602568;23626666;23658456;23752268;23836376;23844196;24004603;24013388;24069881;24096022;24097068;24103454;24123038;24130054;24147044;24250222;24252850;24399039;24457600;24461384;24515614;24583282;24591637;2461859;24654937;24793032;24816145;25027693;2544263;2558068;2833744;2848244;2998765;7539924;7882333;8125298;8567649;8639538;9049244;9209286;9209315;9396813;9488644;9488652;9512561;9611241;9660958;9756848;9933635 7150 P11387;Q9BVT2 ABBA01052572;ABBA01052573;ABBA01052574;AK225095;AK292943;AK310508;AL022394;AL035652;AMYH02037082;BC000943;BC004475;BC039009;BC056681;BC067349;BC136297;CH471077;J03250;KF456903;KF456904;M27913;M60688;M60706;NG_012262;NM_003286;U07804;U07806;X16479 AAA61206;AAA61207;AAA61208;AAB60379;AAB60380;AAH00943;AAH04475;AAH67349;AAI36298;BAF85632;CAA34500;EAW75994;EAW75995;EAW75996;EAW75997;NP_003277;P11387 Hs.472737 1652065;1671635;1703694;1791924;1791926;1791928;1858008;2115714;2125465;2130365;2130367;2149063;2174195;2183907 AL023695;AL031477;D20S758;PMC133732P2;PMC133732P3;PMC133732P4;RH36224;RH71013;RH71031;SHGC-12857;SHGC-78852;STS-AA009654;WI-18785;Z94472 TOPI DNA topoisomerase 1;OTTHUMP00000031713;type I DNA topoisomerase APPROVED protein-coding ENSG00000198900 HGNC:11986 00535 126420 REVIEWED 1350992 TOX2 TOX high mobility group box family member 2 ENCODES a protein that exhibits DNA binding (inferred); RNA polymerase II transcription factor binding (inferred); INVOLVED IN female gonad development (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); response to gonadotropin (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene diol epoxide I; cisplatin 20 20 20 q13.12 39250919 39406866 + 42543492 42698256 + 43914852 44069616 + 6480464;8554872 11780052;12477932;14702039;14764631;15489334;16344560;19240061;20379614;20585324;21832049;21906983;22496870;24250222 84969 B4DQV8;Q5JYD4;Q96NM4 ABBA01052631;ABBA01052632;ABBA01052633;AK055135;AK289906;AK298976;AL034419;AL035089;AL121587;AL353797;AMYH02037122;AMYH02037123;BC007636;BM545579;CB989964;CH471077;DA174963;DA210275;JN655166;JN655167;KF456920;NM_001098796;NM_001098797;NM_001098798;NM_032883;XM_005260586;XM_006723884 ABZ92412;AFA25746;AFA25747;BAB70860;BAF82595;BAG61070;EAW75944;EAW75945;EAW75946;EAW75947;NP_001092266;NP_001092267;NP_001092268;NP_116272;Q96NM4;XP_005260643;XP_006723947 Hs.26608 1337411;1339848;1649265;1650835;1680898;1704730;1776562;2173327;2184576;5127949 AFMa343xb1;AL031469;D20S169;D20S688;D20S861;RH16478;RH78097;SHGC-152424;SHGC-79645;STS-T63166 C20orf100;GCX-1;GCX1;MGC15880;dJ1108D11.2;dJ495O3.1 OTTHUMP00000031037;OTTHUMP00000031038;chromosome 20 open reading frame 100;granulosa cell HMG box 1;granulosa cell HMG box protein 1;granulosa cell HMG-box protein 1 protein-coding ENSG00000124191 HGNC:16095 12734 611163 VALIDATED 6484053 TOX4P1 TOX high mobility group box family member 4 pseudogene 1 4 4 4 q25 110671154 110673016 + 113377080 113378942 + 112455924 112457786 + 285412 ABBA01063815;AC004049;AMYH02009932;NG_022072 1682183 RH25501 pseudo HGNC:44009 INFERRED 1351465 TP53CP tumor protein p53-competing protein 9405685 7160 HGNC:12001 1350277 TOX4 TOX high mobility group box family member 4 ENCODES a protein that exhibits DNA binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN chromatin; nucleus; PTW/PP1 phosphatase complex; INTERACTS WITH aflatoxin B1; copper(2+) sulfate; elemental selenium 14 14 14 q11.2 1810716 1830660 + 21945335 21967319 + 21477176 21499175 + 6480464;8554872 12477932;15231747;15231748;15489334;16344560;16713569;18029348;19293638;19322201;20360068;20516061;20811636;20936779;21184731;21988832;22412018;22496870;22939629;23127401;24722188;8889548;9872452 9878 C9J919;C9JNL1;F8WBE8;F8WC04;F8WCL8;O94842 AB018280;ABBA01061253;ABBA01061254;ABBA01061255;AE000521;AK295913;AK298555;AK299807;AL161747;AMYH02028840;AMYH02028841;AMYH02028842;AY305872;BC013689;BC020292;BC020727;BC035050;BQ676957;BU677026;CH471078;DA334895;NG_001332;NM_014828 AAH13689;AAQ95214;ABZ92394;ACE86628;ACE87309;BAA34457;BAG58701;BAG60750;BAG61682;EAW66380;EAW66381;NP_055643;O94842 Hs.555910 1682183;2126076;2128688;2129881;2146056;2168864;5015961 D15S1477;G35630;G36206;RH25501;RH44762;SHGC-64027;STS-W86221 C14orf92;KIAA0737;LCP1;MIG7 OTTHUMP00000196850;chromosome 14 open reading frame 92;epidermal Langerhans cell protein LCP1;migration-inducing protein 7 protein-coding ENSG00000092203 HGNC:20161 12661 614032 VALIDATED 1625644 TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 11 11 11 q24 3464 5990 + 128804627 128813294 - 128934732 128943399 - 6480464;6484113;6907045;8554872 11030628;11181995;12019168;12477932;14707453;15004724;15657359;15893728;16344560;17207965;17851056;18277906;18277909;19228369;20800603;22334068;22457820;23319000;24316591;25108434 63970 Q9HCN2 AB045830;AB045831;AB045832;ABBA01023015;AI872153;AI924030;AK314286;AL703609;AMYH02025767;AP000920;AY302135;BC069399;BC069426;CH881036;DB111427;DB129822;EF693749;NG_030401;NM_001195194;NM_001195195;NM_001251964;NM_022112 AAH69399;AAH69426;AAP57627;ABS42982;ADQ32899;BAB16421;BAB16422;BAB16423;BAG36945;EAW50498;EAW50499;EAW50500;NP_001182123;NP_001182124;NP_001238893;NP_071395;Q9HCN2 Hs.160953 2220448 UniSTS:482443 P53AIP1 OTTHUMP00000230992;OTTHUMP00000230994;OTTHUMP00000235872;p53-regulated apoptosis-inducing protein 1 APPROVED protein-coding ENSG00000120471 HGNC:29984 10397 605426 REVIEWED 1318140 TP53I11 tumor protein p53 inducible protein 11 INVOLVED IN negative regulation of cell proliferation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4'-tetrachlorobiphenyl 11 11 11 p11.2 45100594 45119410 - 44907454 44972919 - 44885903 44951368 - 1580863;6480464;8554872 12477932;12883691;14702039;15225615;16170329;16344560;17482569;19096915;21139048;21906983;23275563;8619474;9110174;9305847 9537 E9PIK4;E9PIN5;E9PKN9;E9PKZ4;E9PMW4;E9PMY0;E9PN66;E9PNB3;E9PPM1;E9PQ46;E9PS55;O14683;Q8N8U5;U3KQ32 ABBA01060766;ABBA01060767;AC068858;AC092733;AF010315;AK026607;AK054815;AK056379;AK096176;AK292837;AL537510;AMYH02024690;BC000443;BC003010;BC045666;BC065557;BC071606;CH471064;DA115495;DA190266;DA697978;DA729260;DA770050;NM_001258320;NM_001258321;NM_001258322;NM_001258323;NM_001258324;NM_006034;U79302;XM_005253227;XM_005253229;XM_006718387;XR_242833;XR_428864 AAB50226;AAC39533;AAH45666;BAC04717;BAF85526;EAW68052;EAW68053;EAW68054;EAW68055;EAW68056;EAW68057;NP_001245249;NP_001245250;NP_001245251;NP_001245252;NP_001245253;NP_006025;O14683;XP_005253284;XP_005253286;XP_006718450 Hs.554791 1665253;1665255;1675921;1721867;1739213;1855937;5094384;7184773 A001Z17;D11S3959;D11S554;G19814;G54647;G59964;RH66436;RH80852 PIG11 OTTHUMP00000230799;OTTHUMP00000232963;OTTHUMP00000232966;p53-induced gene 11 protein;p53-induced protein;tumor protein p53-inducible protein 11 protein-coding ENSG00000175274 HGNC:16842 15545 VALIDATED 1313500 TP53BP2 tumor protein p53 binding protein 2 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q41 197123518 197189585 - 223967595 224033674 - 223779893 223845972 - 1580863;6480464;8662965 20679336 10498867;10508479;10631318;10646860;11027272;11278422;11278849;11684014;12477932;12694406;14729977;14766226;14985081;15144186;15161933;15231748;15324660;15489334;15592436;15706352;15731768;15757645;15782125;15986435;16091363;16098144;16139958;16169070;16620772;16713569;17081983;17474147;17594908;17965023;17979178;18448430;18719108;18793611;19246451;19377511;19507243;19536092;19539330;20034025;20379614;20467438;20562859;20800603;21139048;21183427;21189257;21382349;21562218;21890473;21900206;21906983;21988832;22169642;22321011;22505724;22552744;23000965;23080069;23088536;23248303;23392125;23472201;23528480;23606740;23644657;23671128;24250222;24255178;24312201;24312625;24474782;24722188;24816145;8016121;8549741;8626687;8668206;8875926;9169421;9345910;9748285 7159 B7Z2E9;F8WBY9;H0Y847;H7C5L8;Q13625 AA961496;ABBA01008153;ABBA01008154;ABBA01008155;AC096542;AI042183;AJ318888;AK294432;AK294654;AK294964;AK295378;AK316016;AK316103;AL357233;AMYH02002766;BC040247;BC046150;BC058918;BX425756;CH471100;NG_029950;NM_001031685;NM_005426;U09582;U58334;XM_005273246 AAA21597;AAC50557;AAH40247;AAH46150;AAH58918;BAG57677;BAG58037;BAG58337;BAH11835;BAH14387;BAH14474;CAC83012;EAW93247;EAW93248;NP_001026855;NP_005417;Q13625;XP_005273303 Hs.523968 1646252;1651768;1663113;1673902;1725755;1770168;2107703;2116538;2166167;2177379 A009H09;AFMa312xg5;D1S3369;G62067;RH64652;SHGC-53868;SHGC-76404;SHGC-76405;SHGC-76406;TP53BP2__5120 53BP2;53BP2S;ASPP2;BBP;PPP1R13A;p53BP2 BCL2-binding protein;OTTHUMP00000035500;OTTHUMP00000216701;apoptosis-stimulating of p53 protein 2;apoptosis-stimulating protein of p53, 2;renal carcinoma antigen NY-REN-51;tumor protein p53 binding protein, 2;tumor suppressor p53-binding protein 2 APPROVED protein-coding ENSG00000143514 HGNC:12000 11803 602143 REVIEWED 1605319 TP53I13 tumor protein p53 inducible protein 13 FOUND IN cytoplasm (inferred); integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH acetylsalicylic acid; cyclosporin A; methyl methanesulfonate 17 17 17 q11.2 24756546 24761040 + 27894198 27900175 + 29567180 29573157 + 6480464 12477932;14702039;14767535;16303743 90313 H0Y3E9;J3KRJ1;J3KSX2;K7EJC6;K7EKX3;K7ELD4;K7ERH9;Q8NBR0 AB110209;AB110214;ABBA01015015;ABBA01015016;AC104564;AK075341;AK093030;AL137404;AMYH02033251;BC001593;BC004507;CH471159;CS051131;NM_138349;XM_005258062;XM_005258063;XM_005258064;XM_005258065;XM_006722162 AAH01593;BAC11555;BAD08203;BAD08208;CAB70727;CAI72061;EAW51192;EAW51193;EAW51194;EAW51195;NP_612358;Q8NBR0;XP_005258119;XP_005258120;XP_005258121;XP_005258122;XP_006722225 Hs.514050 DSCP1 damage-stimulated cytoplasmic protein 1;tumor protein p53-inducible protein 13 protein-coding ENSG00000167543 HGNC:25102 14267 PROVISIONAL 1352381 TP53INP2 tumor protein p53 inducible nuclear protein 2 INVOLVED IN autophagic vacuole assembly; positive regulation of autophagy; positive regulation of transcription, DNA-templated; FOUND IN autophagic vacuole; cytosol; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 20 20 20 q11.22 30041236 30050322 + 33292147 33301240 + 34704343 34713436 + 737633;1580863;6480464 12477932 11780052;15489334;17238154;19056683;19934309;21467300;22470510;22750142 58476 Q5JX65;Q5JX66;Q8IXH6 ABBA01019187;AJ297792;AK025412;AK027153;AK292443;AL109824;AL122050;AL137597;AMYH02036984;AY422170;BC035639;CH471077;NM_021202;XM_005260476;XM_006723841 AAH35639;AAR23799;BAF85132;CAC82592;EAW76256;EAW76257;EAW76258;NP_067025;Q8IXH6;XP_005260533;XP_006723904 Hs.516994 1683413;1739441;2126640;2165951;2165953 A005U42;D20S714E;G20521;RH28655;WI-8949 C20orf110;DKFZp434B2411;DKFZp434O0827;DOR;FLJ21759;FLJ23500;PIG-U;PINH;dJ1181N3.1 OTTHUMP00000030701;OTTHUMP00000030703;diabetes and obesity regulated;diabetes and obesity-regulated;p53-inducible protein U;tumor protein p53-inducible nuclear protein 2 protein-coding ENSG00000078804 HGNC:16104 15546 PROVISIONAL 1602900 TP53I3 tumor protein p53 inducible protein 3 The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 2 2 2 p23.3 24140633 24148056 - 24300303 24308085 - 24077433 24085215 - 6480464;6907045;8554872 10840161;11919562;12477932;15067011;15146197;15192123;15489334;15491642;15815621;16009130;16169070;16344560;18676680;18801469;19064572;19170196;19336552;19343046;19349281;19573080;19625176;19692168;19773279;20023697;20453000;20603616;21139048;22461624;22939629;23241165;24388982;8125298;9305847 9540 B4DMQ7;H7BZH6;Q53FA7 ABBA01045102;AC008073;AF010309;AF010317;AK223382;AK297579;AMYH02003410;AY371700;BC000474;BC018819;BT007149;CH471053;CN285566;DB032484;DB034176;DB054005;DQ232851;NG_029715;NM_001206802;NM_004881;NM_147184;XM_005264650;XM_006712150 AAC39528;AAC39535;AAH00474;AAP35813;AAQ90166;AAY14665;ABB02183;BAD97102;BAG59969;EAX00762;EAX00763;EAX00764;EAX00765;EAX00766;NP_001193731;NP_004872;NP_671713;Q53FA7;XP_005264707;XP_006712213 Hs.50649;Hs.733381 PIG3 OTTHUMP00000116036;OTTHUMP00000116037;OTTHUMP00000200726;OTTHUMP00000200727;p53-induced gene 3 protein;quinone oxidoreductase PIG3;quinone oxidoreductase homolog;tumor protein p53-inducible protein 3 APPROVED protein-coding ENSG00000115129 HGNC:19373 05527 605171 REVIEWED 1349699 TP53INP1 tumor protein p53 inducible nuclear protein 1 ENCODES a protein that exhibits antioxidant activity (ortholog); INVOLVED IN autophagic cell death; positive regulation of autophagy; positive regulation of transcription, DNA-templated; FOUND IN autophagic vacuole; cytosol; nucleus; INTERACTS WITH (-)-demecolcine; 17alpha-ethynylestradiol; 17beta-estradiol 8 8 8 q22 92123395 92146810 - 95938200 95961615 - 94925972 94949387 - 1580863;6480464 11511362;12067065;12438758;12477932;12851404;14702039;15489334;15706352;16044147;16344560;16521180;17393983;17537403;18277906;18277909;18974142;19322201;20581827;20889853;21219856;21339733;21538421;22213058;22421968;22470510;22730212;23333058;23568502;24152184;24447717 94241 Q96A56 AB017926;AB017927;AB062056;ABBA01037469;ABBA01037470;AC087752;AF409114;AF409115;AK025792;AK123608;AK125880;AK130074;AK315071;AL133074;AL833652;AMYH02018438;AMYH02018439;BC074813;BC074868;CH471060;DB086880;NM_001135733;NM_033285 AAH74813;AAH74868;AAL04513;AAL04514;BAB62149;BAB62150;BAB62151;BAB62152;BAG37542;EAW91739;EAW91740;EAW91741;NP_001129205;NP_150601;Q96A56 Hs.492261 1699462;1763269;2117130;2184542 RH103322;SHGC-146998;STS-N63582;STS-T19436 DKFZp434M1317;FLJ22139;SIP;TP53DINP1;TP53INP1A;TP53INP1B;Teap;p53DINP1 OTTHUMP00000227253;OTTHUMP00000227254;p53-dependent damage-inducible nuclear protein 1;p53-inducible p53DINP1;stress-induced protein;tumor protein p53-inducible nuclear protein 1 protein-coding ENSG00000164938 HGNC:18022 09367 606185 VALIDATED 1345974 TP53L tumor protein p53-like 9618472 8461 HGNC:12002 1345809 TP53TG1 TP53 target 1 (non-protein coding) INTERACTS WITH (-)-demecolcine; 17beta-estradiol; aflatoxin B1 7 7 7 q21.1 81659523 81679678 - 86954663 86974808 - 87325347 87345492 - 1580863;6480464 12477932;12690205;21832049;9713990 11257 Q9Y2A0 AB007455;AB007456;AB007457;AB007458;ABBA01045869;AC005045;AK292782;AMYH02016216;BC002709;BC061927;BC068535;BC103631;BT009845;CH236949;CH471091;CR542141;HG500376;HG500377;NR_015381 AAP88847;BAA78640;BAA78641;BAA78642;BAA78643;BAF85471;CAG46938;EAL24178;EAW76955;EAW76956;EAW76957;EAW76958;EAW76959;Q9Y2A0 Hs.274329 2153536 RH17778 LINC00096;NCRNA00096;P53TG1;P53TG1-D;TP53AP1 ncrna ENSG00000182165 HGNC:17026 10276 PREDICTED 1317644 TP53RK TP53 regulating kinase ENCODES a protein that exhibits p53 binding; protein serine/threonine kinase activity; INVOLVED IN protein phosphorylation; FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; 2-methylcholine; afimoxifene 20 20 20 q13.2 42024485 42029757 - 45313004 45318301 - 46684365 46689637 - 1580863;6480464 11546806;11780052;12477932;12659830;12914926;14702039;15380516;15489334;16189514;16600182;17712528;19322201;20677014;21139048;21906983;21963094;22505724;22863883;22912744;22939624;22939629;23455922;24816145;8889548 112858 Q5JZ02;Q96S44 AB017505;AB065434;ABBA01052683;AK096502;AK315182;AL031055;AL133520;AMYH02037161;BC009727;BC010637;BC019621;BC035461;BC066309;BM702732;CH471077;NM_033550 AAH09727;AAH10637;AAH66309;BAB61875;BAB62041;BAG37623;BAG53306;EAW75727;NP_291028;Q96S44 Hs.440263 1664642;1664644;1685780;1768145;1776832;2149018;2153107 AL022352;D20S1132;G27374;RH45751;RH66104;RH79978;STS-AA113277 BUD32;C20orf64;Nori-2;Nori-2p;PRPK;dJ101A2 EKC/KEOPS complex subunit TP53RK;OTTHUMP00000108264;OTTHUMP00000108265;TP53-regulating kinase;atypical serine/threonine protein kinase TP53RK;p53-related protein kinase protein-coding ENSG00000172315 HGNC:16197 12276 608679 VALIDATED 1602331 TP53TG3 TP53 target 3 FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (+)-catechin; 2-methylcholine; 5-aza-2'-deoxycytidine 16 16 16 p13 534 1530 - 32684849 32687448 - 32673528 32676920 - 6480464 10534768;12477932;14702039;19322201 24150 I3L219;Q9ULZ0 AB023508;ABBA01158321;AC138907;AK097435;AK312220;AL133588;BC096733;BC098165;BX381390;NM_001267813;NM_016212;NR_110886;NR_110910;XM_006721026;XM_006721027 AAH96733;AAH98165;BAA84978;BAG35153;CAH10710;NP_001254742;NP_057296;Q9ULZ0;XP_006721089;XP_006721090 Hs.592038;Hs.624982;Hs.706716 5024730;5123581;5124667 RH65193;RH92775;SHGC-53828 P53TG3;TP53TG3A;TP53TG3B;TP53TG3C;TP53TG3D TP53-inducible gene 3 protein;TP53-target gene 3 protein;p53 target gene 3 protein-coding ENSG00000183632 HGNC:30759 18215 VALIDATED 3302253 TP53TG3B TP53 target 3B FOUND IN cytoplasm (inferred); nucleus (inferred) 16 16 16 p11.2 535 2355 - 33262120 33264719 + 33360879 33363478 + 10534768;12477932;23251661 729355 Q9ULZ0 AB023508;ABBA01162117;AC141257;AK097435;AK312220;AL133588;BC096733;BC098165;CA425760;NM_001099687;NM_001205265;NR_110897;NR_110911;XM_006721084 AAH96733;AAH98165;BAA84978;BAG35153;CAH10710;NP_001093157;NP_001192194;Q9ULZ0;XP_006721147 Hs.592038;Hs.624982;Hs.706716 5024730;5091741;5121828;5123581;5124667 RH65193;RH92775;SHGC-53828;SHGC-60493;SHGC-60503 MGC119888;TP53TG3;TP53TG3A;TP53TG3C;TP53TG3D TP53-inducible gene 3 protein;TP53-target gene 3 protein protein-coding ENSG00000261509 HGNC:37202 VALIDATED 7205173 TP53TG3D TP53 target 3D FOUND IN cytoplasm (inferred); nucleus (inferred) 16 16 p11.2 32263413 32267243 + 32253329 32255922 + 12477932;16344560 729264 H3BT92;Q9ULZ0 AB023509;AC133485;AMYH02031861;BC096700;BC099842;CR541650;DA077802;NM_001243722;NR_110898 AAH96700;AAH99842;BAA84979;CAG46451;NP_001230651;Q9ULZ0 Hs.513537 5024730;5123581;5124667 RH65193;RH92775;SHGC-53828 TP53TG3;TP53TG3B;TP53TG3C TP53-inducible gene 3 protein;TP53-target gene 3 protein protein-coding HGNC:44657 VALIDATED 5685709 TP53TG3C TP53 target 3C FOUND IN cytoplasm (inferred); nucleus (inferred) 16 16 p11.2 33204354 33207581 + 33193033 33196260 + 10534768;12477932;16344560;17213182 653550 Q9ULZ0 AB023508;AC138869;AK097435;AK312220;AL133588;BC096733;BC098165;DB053188;DT215671;NM_001205259;NM_001205260;NR_110914;XM_006721074;XM_006721075 AAH96733;AAH98165;BAA84978;BAG35153;CAH10710;NP_001192188;NP_001192189;Q9ULZ0;XP_006721137;XP_006721138 Hs.592038;Hs.624982 5024730;5123581 RH65193;SHGC-53828 TP53TG3;TP53TG3B;TP53TG3D TP53-inducible gene 3 protein;TP53-target gene 3 protein;TP53-target gene 3 protein-like protein-coding ENSG00000205457 HGNC:42962 VALIDATED 1350426 TP53TG5 TP53 target 5 FOUND IN nucleus; INTERACTS WITH potassium dichromate (ortholog) 20 20 20 q13.12 40711034 40715471 - 44002520 44009937 - 45373880 45407835 - 6480464 10719363;11780052;12477932;15489334;21832049 27296 Q9Y2B4 AB017802;ABBA01052660;AK295308;AL021578;AMYH02037150;BC036785;CH471077;HC044599;NM_014477;XM_006723777;XM_006723778;XM_006723779;XM_006723780 AAH36785;BAA76405;BAG58288;CBH30629;EAW75858;EAW75859;NP_055292;Q9Y2B4;XP_006723840;XP_006723841;XP_006723842;XP_006723843 Hs.710271 1675279 WI-16033 C20orf10;CLG01 OTTHUMP00000031131;TP53-inducible gene 5 protein;TP53-target gene 5 protein protein-coding HGNC:15856 12733 VALIDATED 1625138 TP73-AS1 TP73 antisense RNA 1 FOUND IN extracellular region (inferred); INTERACTS WITH carmustine; cisplatin; temozolomide 1 1 1 p36.32 2906589 2917978 - 3652177 3663937 - 3735984 3747373 - 6480464 12477932;20477830;22388545;23726844;9455484 57212 Q9UF72 AB007964;ABBA01073653;AL133648;AL136528;AMYH02000138;BC013872;BC035073;BC044603;BC089039;BC093699;BC111984;CH471130;HG491630;HG491631;HG491632;HG491633;HG491634;HG491635;LN607843;NR_033708;NR_033709;NR_033710;NR_033711;NR_033712 AAH93699;AAI11985;CAB63767;EAW71471;EAW71472;EAW71473;EAW71474;Q9UF72 Hs.49658 1662692;1663539;1664333;1851087;5093018;5118444 A009E17;D11S3316;G32472;RH68672;SHGC-74135;SHGC-74137 KIAA0495;MGC138189;PDAM APPROVED ncrna ENSG00000227372 HGNC:29052 13803 VALIDATED 6770651 TPBGL trophoblast glycoprotein-like FOUND IN integral component of membrane (inferred) 11 11 11 q13.4 72257978 72259799 + 74951950 74954749 + 75240905 75243704 + 6480464 12477932;24250222 100507050 P0DKB5 ABBA01017471;AMYH02025112;AP001972;BC007804;N54218;NM_001195528 NP_001182457;P0DKB5 Hs.577323;Hs.744257 1656372 SGC38123 uncharacterized protein LOC100507050 protein-coding ENSG00000261594 HGNC:44159 VALIDATED 1345613 TPBG trophoblast glycoprotein This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009] 6 6 6 q14-q15 83506010 83510221 + 83072923 83077134 + 82363206 82367417 + 1580863;6480464;8699517 10366710;11798178;11903056;12477932;12481437;14574404;15489334;16303743;16616918;16646078;17978129;18567615;18833005;19581412;21139048;22498111;22939629;22956548;24583282;7593330;8132670;8895545 7162 Q13641 ABBA01040444;AI342491;AI857997;AJ012159;AK074786;AK074790;AK291170;AL121977;AMYH02013997;AX961916;BC037161;CH471051;CQ782726;NG_033981;NM_001166392;NM_006670;XM_005248763;Z29083 AAH37161;BAF83859;BAG52001;CAA09930;CAA82324;CAF06467;CAF85961;EAW48683;NP_001159864;NP_006661;Q13641;XP_005248820 Hs.82128 2140222;2163461;7186926 RH69287;STS-Z29083 5T4;5T4-AG;5T4AG;M6P1;WAIF1 5T4 oncofetal antigen;5T4 oncofetal trophoblast glycoprotein;5T4 oncotrophoblast glycoprotein;wnt-activated inhibitory factor 1 APPROVED protein-coding ENSG00000146242 HGNC:12004 01837 190920 REVIEWED 1344084 TPCN1 two pore segment channel 1 Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008] 12 12 12 q24.13 113286083 113363215 + 113659260 113736390 + 113221455 113298585 + 724765;6480464;7204697;8554872 10753632;20018950 10574461;12168954;12477932;14702039;16344560;16382101;19387438;19620632;22270358;22500018;23149075;24776928 53373 B7Z3R2;F8VR74;F8VS97;F8VV93;F8VVY9;F8VZZ6;F8W0K7;F8W0P9;F8W1G4;F8W1L6;H0YHX1;H0YIK4;Q9ULQ1 AB032995;ABBA01019949;ABBA01019950;ABBA01019951;ABBA01019952;ABBA01019953;AC010178;AC089999;AC127004;AK000619;AK025838;AK057414;AK075071;AK093490;AK295022;AK296268;AMYH02027237;AMYH02027238;AMYH02027239;AY083666;BC007419;BC068001;BC069234;BC110885;BC136795;BC136796;BC142664;BC150203;BC152423;CH471054;DA777641;NM_001143819;NM_001301214;NM_017901;XM_005253905;XM_005253906;XM_006719465;XR_243016;XR_243017 AAI36796;AAI36797;AAI42665;AAI50204;AAI52424;AAM01199;BAA86483;BAA91290;BAC11385;BAG52729;BAH11951;BAH12298;EAW98046;EAW98047;NP_001137291;NP_001288143;NP_060371;Q9ULQ1;XP_005253962;XP_005253963;XP_006719528 Hs.524763 1650317;1677126;1699114;1758503;1775070;2115762;2141153;2153212;2162301;5017631 A004Q10;D12S1195E;D12S1973;G16004;RH103133;RH44581;RH79706;SHGC-148490;STS-AA001615;TPCN1 FLJ20612;KIAA1169;TPC1 OTTHUMP00000241729;OTTHUMP00000241730;OTTHUMP00000241731;two pore calcium channel protein 1;two-pore channel 1;two-pore segment channel 1;voltage-dependent calcium channel protein TPC1 APPROVED protein-coding ENSG00000186815 HGNC:18182 18217 609666 VALIDATED 1317577 TP53BP1 tumor protein p53 binding protein 1 ENCODES a protein that exhibits methylated histone binding; p53 binding; RNA polymerase II activating transcription factor binding; INVOLVED IN cellular response to DNA damage stimulus; positive regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; PARTICIPATES IN ataxia telangiectasia-mutated (ATM) signaling pathway; histone modification pathway; non-homologous end joining pathway of double-strand break repair; ASSOCIATED WITH Pulmonary arterial hypertension; Breast Neoplasms (ortholog); Pancreatic Neoplasms (ortholog); FOUND IN chromosome, telomeric region; cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 4-hydroxyphenyl retinamide; atrazine 15 15 15 q15-q21 20470061 20573379 - 43695262 43802707 - 43407214 43510509 - 1580863;2325154;2325153;6480464;9586752;9479148;9479074;8661237;8554872 11585747;12374701;23642229;24035451;24270264;24326623 10646849;11042216;11877378;12110597;12170762;12351827;12364621;12446782;12447382;12447390;12477932;12551934;12556884;12607005;12646190;12668657;12697768;12792649;12824158;14576432;14690447;14695167;14702039;14978302;15149599;15279780;15302935;15342556;15364958;15456759;15489334;15525939;15539948;15542852;15574327;15611139;15784679;15840649;15856006;15970701;16051665;16094384;16169070;16187115;16294045;16294047;16314399;16872911;16901786;16964243;17043355;17081983;17161371;17190600;17500065;17525332;17546051;17591918;17634560;17637749;17695720;17805299;17884766;17925232;17925396;17927872;17940005;17984114;17985346;18029348;18337245;18380789;18664457;18804090;18840612;18931659;18986980;18996087;19001859;19064641;19074885;19116388;19124460;19176521;19228710;19394292;19414588;19422301;19471022;19536092;19615732;19626602;19650074;19656881;19690177;19806024;19876065;20010693;20016603;20023697;20081839;20106900;20126263;20307547;20351298;20360068;20372852;20379614;20385987;20453000;20453858;20596616;20644561;20646866;20686496;20724228;20824083;21035370;21139048;21252943;21275903;21293379;21317883;21361779;21373753;21412056;21444690;21526938;21552324;21566653;21623170;21635553;21840613;21890473;21914189;21931182;22034884;22075984;22084066;22088370;22266878;22323184;22373579;22421153;22553214;22586326;22621922;22677490;22860035;22865450;22886457;22939629;22990118;23000965;23027628;23206244;23246380;23329852;23333306;23337117;23377543;23383273;23680719;23726848;23910218;24004175;24091731;24158819;24164899;24191908;24316395;24457600;24654937;24703952;24816145;25027693;25049398;7890747;8016121;8896460;8910340;9748285 7158 A6NNK5;C9JXV0;H7BZY0;H7C151;H7C3N7;H7C495;M0R142;Q12888 AB210025;ABBA01038346;ABBA01038347;ABBA01038348;AC018924;AF078776;AK123418;AK125173;AK292915;AK295764;AK307405;AMYH02030305;AMYH02030306;AMYH02030307;AY904026;BC017846;BC063119;BC112161;BP228994;BX537418;CH471125;NM_001141979;NM_001141980;NM_005657;U09477;XM_005254634;XM_005254635;XM_006720666 AAA21596;AAC62018;AAH17846;AAI12162;AAW69392;BAE06107;BAF85604;BAG53901;BAH12183;CAD97660;EAW92604;EAW92605;NP_001135451;NP_001135452;NP_005648;Q12888;XP_005254691;XP_005254692;XP_006720729 Hs.440968;Hs.584887 1655482;1660722;1669206;1678427;1713213;1800890;1801738;1803540;1803674;1804316;1805078;1805300;1805816;1806556;1807720;1807992;1808288;1809728;1809808;1810076;1811412;1812832;1813212;1814654;1815994;1817576;1820320;1821682;1822938;1826622;1827090;1830640;1830968;1831304;1833402;1835234;1838278;1838986;1839434;1839682;1841352;1842232;1843384;1843562;1845672;1845764;1851496;1931970;1931972;1931974;1931976;1931978;1931980;1931982;1931984;1931986;1931988;1931990;1931992;1931994;1931996;1931998;1932000;1932002;1932004;1932006;1932008;1932010;1932012;1932014;1932016;1932018;1932020;1932022;1932024;1932026;1932028;1932030;1932032;1932034;1932036;1932038;1932040;1932042;1932044;1932046;1932048;1932050;1932052;1932054;1932056;1932058;1932060;1932062;1932064;1932066;1932068;1932070;1932072;1932074;1932076;1932078;1932080;1932082;1932084;1932086;1932088;1932090;1932092;1932094;1932096;1932098;1932100;1932102;1932104;1932106;1932108;1932110;1932112;1932114;1932116;1932118;1932120;1932122;1932124;1932126;1932128;1932130;1932132;1932134;1932136;1932138;1932140;1932142;1932144;1932146;1932148;1932150;1932152;1932154;1932156;1932158;1932160;1932162;1932164;1932166;1932168;1932170;1932172;1932174;1932176;1932178;1932180;1932182;1932184;1932186;1932188;1932190;1932192;1932194;1932196;1932198;1932200;1932202;1932204;1932206;1932208;1932210;1932212;1932214;1932216;1932218;1932220;1932222;1932224;1932226;1932228;1932230;1932232;1932234;1932236;1932238;1932240;1932242;1932244;1932246;1932248;1932250;1932252;1932254;1932256;1932258;1932260;1932262;1932264;1932266;1932268;1932270;1932272;1932274;1932276;1932278;1932280;1932282;1932284;1932286;1932288;1932290;1932292;1932294;1932296;1932298;1932300;1932302;1932304;1932306;1932308;1932310;1932312;1932314;1932316;1932318;1932320;1932322;1932324;1932326;1932328;1932330;1932332;1932334;1932336;1932338;1932340;1932342;1932344;1932346;1932348;1932350;1932352;1932354;1932356;1932358;1932360;1932362;1932364;1932366;1932368;1932370;1932372;1932374;1932376;1932378;1932380;1932382;1932384;1932386;1932388;1932390;1932392;1932394;1932396;1932398;1932400;1932402;1932404;1932406;1932408;1932410;1932412;1932414;1932416;1932418;1932420;1932422;1932424;1932426;1932428;1932430;1932432;1932434;1932436;1932438;1932440;1932442;1932444;1932446;1932448;1932450;1932452;1932454;1932456;1932458;1932460;1932462;1932464;1932466;1932468;1932470;1932472;1932474;1932476;1932478;1932480;1932482;1932484;1932486;1932488;1932490;1932492;1932494;1932496;1932498;1932500;1932502;1932504;1932506;1932508;1932510;1932512;1932514;1932516;1932518;1932520;1932522;1932524;1932526;1932528;1932530;1932532;1932534;1932536;1932538;2108589;2119772;2140345;2208698;2208700;2208702;2208704;2208706;2208708;2208710;2208712;2208714;2208716;2208718;2208720;2208722;2208724;2208726;2208728;2208730;2208732;2208734;2208736;2208738;2208740;2208742;2208744;2208746;2208748;2208750;2208752;2208754;2208756;2208758;2208760;2208762;2208764;2208766;2208768;2208770;2208772;2208774;2208776;2208778;2208780;2208782;2208784;2208786;2208788;2208790 D15S1322;ECD01310;ECD01749;ECD02671;ECD02743;ECD03082;ECD03481;ECD03596;ECD03859;ECD04235;ECD04833;ECD04974;ECD05125;ECD05856;ECD05896;ECD06030;ECD06704;ECD07429;ECD07626;ECD08357;ECD09037;ECD09838;ECD11235;ECD11927;ECD12557;ECD14425;ECD14660;ECD16456;ECD16620;ECD16788;ECD17844;ECD18772;ECD20313;ECD20672;ECD20899;ECD21024;ECD21872;ECD22319;ECD22901;ECD22990;ECD24054;ECD24101;G31104;REN36814;REN36815;REN36816;REN36817;REN36818;REN36819;REN36820;REN36821;REN36822;REN36823;REN36824;REN36825;REN36826;REN36827;REN36828;REN36829;REN36830;REN36831;REN36832;REN36833;REN36834;REN36835;REN36836;REN36837;REN36838;REN36839;REN36840;REN36841;REN36842;REN36843;REN36844;REN36845;REN36846;REN36847;REN36848;REN36849;REN36850;REN36851;REN36852;REN36853;REN36854;REN36855;REN36856;REN36857;REN36858;REN36859;REN36860;REN36861;REN36862;REN36863;REN36864;REN36865;REN36866;REN36867;REN36868;REN36869;REN36870;REN36871;REN36872;REN36873;REN36874;REN36875;REN36876;REN36877;REN36878;REN36879;REN36880;REN36881;REN36882;REN36883;REN36884;REN36885;REN36886;REN36887;REN36888;REN36889;REN36890;REN36891;REN36892;REN36893;REN36894;REN36895;REN36896;REN36897;REN36898;REN36899;REN36900;REN36901;REN36902;REN36903;REN36904;REN36905;REN36906;REN36907;REN36908;REN36909;REN36910;REN36911;REN36912;REN36913;REN36914;REN36915;REN36916;REN36917;REN36918;REN36919;REN36920;REN36921;REN36922;REN36923;REN36924;REN36925;REN36926;REN36927;REN36928;REN36929;REN36930;REN36931;REN36932;REN36933;REN36934;REN36935;REN36936;REN36937;REN36938;REN36939;REN36940;REN36944;REN36945;REN36946;REN36947;REN36948;REN36949;REN36950;REN36951;REN36952;REN36953;REN36954;REN36955;REN36956;REN36957;REN36958;REN36959;REN36960;REN36961;REN36962;REN36963;REN36964;REN36965;REN36966;REN36967;REN36968;REN36969;REN36970;REN36971;REN36972;REN36973;REN36974;REN36975;REN36976;REN36977;REN36978;REN36979;REN36980;REN36981;REN36982;REN36983;REN36984;REN36985;REN36986;REN36987;REN36988;REN36989;REN36990;REN36991;REN36992;REN36993;REN36994;REN36995;REN36996;REN36997;REN36998;REN36999;REN37000;REN37001;REN37002;REN37003;REN37004;REN37005;REN37006;REN37007;REN37008;REN37009;REN37010;REN37011;REN37012;REN37013;REN37014;REN37015;REN37016;REN37017;REN37018;REN37019;REN37020;REN37021;REN37022;REN37023;REN37024;REN37025;REN37026;REN37027;REN37028;REN37029;REN37030;REN37031;REN37032;REN37033;REN37034;REN37035;REN37036;REN37037;REN37038;REN37039;REN37040;REN37041;REN37042;REN37043;REN37044;REN37045;REN37046;REN37047;REN37048;REN37049;REN37050;REN37051;REN37052;REN37053;REN37054;REN37055;REN37056;REN37057;REN37058;REN37059;REN37060;REN37061;REN37062;REN37063;REN37064;REN37065;REN37066;REN37067;REN37068;REN37069;REN37070;REN37071;REN37072;REN37073;REN37074;REN37075;REN37076;REN37077;REN37078;REN37079;REN37080;REN37081;REN37082;REN37083;REN37084;REN37085;REN37086;REN37087;REN37088;REN37089;REN37090;REN37091;REN37092;REN37093;REN37094;REN37095;REN37096;REN37097;REN37098;REN37099;REN37100;REN37101;RH120394;RH15708;RH44505;RH68009;RH93556;SHGC-63652;TP53BP1_8682;stSG627695;stSG627696;stSG627697;stSG627698;stSG627699;stSG627700;stSG627701;stSG627702;stSG627703;stSG627704;stSG627705;stSG627706;stSG627707;stSG627708;stSG627709;stSG627710;stSG627711;stSG627712;stSG627713;stSG627715;stSG627716;stSG627717;stSG627718;stSG627719;stSG627720;stSG627721;stSG627722;stSG627723;stSG627724;stSG627725;stSG627726;stSG627727;stSG627728;stSG627729;stSG627730;stSG627731;stSG627732;stSG627733;stSG627734;stSG627735;stSG627736;stSG627737;stSG627738;stSG627739;stSG627740;stSG627741;stSG627742 53BP1;FLJ41424;MGC138366;p202;p53BP1 OTTHUMP00000066115;OTTHUMP00000066116;OTTHUMP00000066117;p53-binding protein 1;tumor protein 53-binding protein, 1;tumor protein p53-binding protein, 1;tumor suppressor p53-binding protein 1 protein-coding ENSG00000067369 HGNC:11999 05569 605230 VALIDATED 1323411 TPCN2 two pore segment channel 2 This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009] 11 11 11 q13.3 66156085 66198158 + 68816350 68858072 + 69048882 69136059 + 1580863;6480464;7204697;8554872 20018950 12477932;14702039;15203218;15342556;15489334;16382101;16554811;18488028;19387438;19620632;20495006;20585627;20720007;23077736;24250222;24502975 219931 E7ETX0;Q59G56;Q8NHX9 AB209253;ABBA01023972;AK023366;AK123089;AK298919;AL137479;AMYH02025032;AP003071;AW177543;AY029200;BC063008;BP380645;CD636711;CH471076;NG_016153;NM_139075;XM_005273824;XM_005273825;XM_005273826;XM_005273827;XM_005273828;XM_005273830;XM_005273831;XM_005273832;XM_006718451;XM_006718452;XM_006718453;XM_006718454;XM_006718455;XM_006718456;XM_006718457;XR_247191;XR_247192 AAH63008;AAK31802;BAD92490;BAG51185;BAG61025;CAB70760;EAW74734;EAW74735;EAW74736;EAW74737;NP_620714;Q8NHX9;XP_005273881;XP_005273882;XP_005273883;XP_005273884;XP_005273885;XP_005273887;XP_005273888;XP_005273889;XP_006718514;XP_006718515;XP_006718516;XP_006718517;XP_006718518;XP_006718519;XP_006718520 Hs.131851 1762587;1789126;2184270;5020948 G35510;G65699;SGC31049;SHGC-146387 FLJ41094;SHEP10;TPC2 OTTHUMP00000237209;OTTHUMP00000237212;two pore calcium channel protein 2;two-pore calcium channel protein 2;voltage-dependent calcium channel protein TPC2 APPROVED protein-coding HGNC:20820 18218 612163;612267 REVIEWED 1320807 TPD52L1 tumor protein D52-like 1 This gene encodes a member of the tumor protein D52 (TPD52) family. The encoded protein contains a coiled-coil domain and may form homo- or hetero-dimer with TPD52 family members. The protein is reported to be involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed, but the full-length nature of some variants has not yet been determined. [provided by RefSeq, Jul 2008] 6 6 6 q22-q23 126219917 126329682 + 125474876 125584644 + 125153730 125263498 + 1580863;6480464;8554872 11549320;11594751;12477932;12963375;14702039;14761963;16112108;16169070;16620967;16631610;21988832;23444366;24255178;7796418;8812487;9484778;9730602 7164 E9PNK6;E9PNQ9;E9PPQ1;J3KNE7;Q16890 ABBA01025954;ABBA01025955;AF004427;AF208012;AK090516;AK124817;AK291866;AK291872;AK291887;AL121938;AL136128;AMYH02014430;AMYH02014431;AMYH02014432;BC002375;BE409865;BM048527;BP334548;BQ641312;CB114736;CH471051;NG_029911;NM_001003395;NM_001003396;NM_001003397;NM_001292026;NM_001300994;NM_003287;U44427;U44428;U44429;XM_005267121;XM_005267122;XM_005267123;XM_005267124;XM_006715556;XM_006715557;XM_006715558 AAB40894;AAB40895;AAB40896;AAC98475;AAG49634;AAH02375;BAF84555;BAF84561;BAF84576;EAW48142;EAW48143;EAW48144;EAW48145;EAW48146;EAW48147;NP_001003395;NP_001003396;NP_001003397;NP_001278955;NP_001287923;NP_003278;Q16890;XP_005267178;XP_005267179;XP_005267180;XP_005267181;XP_006715619;XP_006715620;XP_006715621 Hs.591347 1671046;1687836;1709196;1726895;1774487;1785870;1851305;2138724;5024798 17663ft;D6S2149;D6S2170;G62690;RH46614;RH69653;RH92693;SHGC-112379;SHGC-85776 D53;MGC8556;TPD52L2;hD53 OTTHUMP00000017133;OTTHUMP00000017134;OTTHUMP00000017135;OTTHUMP00000017136;OTTHUMP00000228908;OTTHUMP00000228944;OTTHUMP00000228945;OTTHUMP00000228946;OTTHUMP00000228947;OTTHUMP00000228948;tumor protein D52-like 2;tumor protein D53 APPROVED protein-coding ENSG00000111907 HGNC:12006 07236 604069 REVIEWED 1606756 TPD52L3 tumor protein D52-like 3 This gene encodes a member of the tumor protein D52-like family of proteins. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. The encoded protein may play a role in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 9 9 9 p24.1 6265808 6269359 + 6328349 6331900 + 6328349 6331900 + 6480464 12477932;14702039;15342556;16189514;16631610;21832049;22699663 89882 Q96J77 ABBA01065398;AI032390;AK057479;AL133480;AMYH02019093;AY032877;BC017589;BC033792;BC042113;BI463769;BP369721;CH471071;DB507802;HC007194;HC044679;NM_001001874;NM_001001875;NM_033516 AAH17589;AAH33792;AAH42113;AAK66820;ADZ15762;BAB71505;CBH19402;CBH30669;EAW58745;EAW58746;EAW58747;NP_001001874;NP_001001875;NP_277051;Q96J77 Hs.351815 1689528;2219220 NYD-SP25__6096;RH92614 MGC26757;MGC45374;NYD-SP25;NYDSP25;hD55 OTTHUMP00000021042;OTTHUMP00000021043;OTTHUMP00000021044;protein kinase NYD-SP25;testis development protein NYD-SP25;tumor protein D55 APPROVED protein-coding ENSG00000170777 HGNC:23382 14864 REVIEWED 1315573 TPD52 tumor protein D52 ENCODES a protein that exhibits calcium ion binding; protein heterodimerization activity; protein homodimerization activity; INVOLVED IN B cell differentiation; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; endoplasmic reticulum; perinuclear region of cytoplasm; INTERACTS WITH 2-nitrofluorene; 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one; aflatoxin B1 8 8 8 q21.13 76951325 77088299 - 80947103 81083836 - 80034868 80171659 - 1580863;6480464;8554872 10942595;11549320;11594751;12477932;12963375;14702039;14996714;15489334;15576473;15986428;16112108;16344560;16620967;16631610;17081983;17418805;17947466;18698023;18710659;18800346;18959755;19041365;19624875;19732746;19834535;20032513;20379614;20423888;20641033;20846453;20923822;20946871;21139048;21338318;21385902;21890473;21906983;21963094;21988832;22053931;22863883;22939629;23000965;23104178;23319000;23444366;23602568;23817569;23824909;23934736;23974097;24317684;24390342;24768995;7796418;8125298;8632896;8812487;9484778 7163 E5RFR7;E5RGI1;E5RJ27;E5RK35;F5H0B0;H0YC44;P55327 ABBA01004070;ABBA01004071;ABBA01004072;ABBA01004073;AC009686;AF202897;AK057075;AK223631;AK295468;AK296615;AK308983;AK313135;AMYH02018293;AMYH02018294;AMYH02018295;AMYH02018296;AMYH02018297;BC018117;BI546831;BI551254;BT019444;BU071387;BX640835;CA842828;CB128067;CH471068;CR542034;CR542064;DA079836;DA199944;DA409017;DA665049;DA921955;DB505575;DC331087;DC383362;GQ499324;GQ499325;GQ499326;GQ499327;GQ499328;NM_001025252;NM_001025253;NM_001287140;NM_001287142;NM_001287143;NM_001287144;NM_005079;NR_105033;NR_105034;NR_105035;NR_105036;NR_105037;S82081;U18914 AAB36475;AAC50183;AAH18117;AAO22156;AAV38251;ABM81958;ABM85137;ACY08776;ACY08777;ACY08778;ACY08779;ACY08780;BAD97351;BAG35954;BAH12078;BAH12400;CAE45908;CAG46831;CAG46861;EAW87073;EAW87074;NP_001020423;NP_001020424;NP_001274069;NP_001274071;NP_001274072;NP_001274073;NP_005070;P55327 Hs.368433 1335008;1651580;1778524;1779136;1779212;2145372;2150099;2157919;2186190 A006S26;D8S1757;RH78824;SHGC-152811;SHGC-31549;SHGC-36119;SHGC-60140;SHGC-60171;STS-AA010860 D52;N8L;PC-1;PrLZ;hD52 OTTHUMP00000226985;OTTHUMP00000227030;OTTHUMP00000227031;OTTHUMP00000227032;OTTHUMP00000227115;prostate and colon associated protein;prostate leucine zipper;protein N8 protein-coding ENSG00000076554 HGNC:12005 04963 604068 VALIDATED 1352243 TPD52L2 tumor protein D52-like 2 This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Aug 2011] 20 20 20 q13.2-q13.3 59180773 59206754 + 62496581 62522898 + 63865228 63891545 + 1302805;1580863;6480464;8554872 9484778 11549320;11780052;12477932;12963375;14702039;15342556;15489334;16112108;16341674;16344560;16620967;16631610;17081983;18698023;20972266;21139048;21890473;21906983;21963094;21988832;22053931;22863883;22939629;23000965;23443559;23444366;23529586;23535732;24052230;24583282;24816145;8125298;8812487;9838088 7165 O43399;Q68E05;Q6FGS1 AB062396;ABBA01021428;ABBA01021429;AF004429;AF004430;AK055068;AK125709;AK128744;AK223031;AK293349;AK297064;AK298366;AK314501;AL118506;AMYH02037475;AU124850;AY323819;BC006804;BI667351;BI754201;BM473873;BM833522;BP347669;BQ948007;BT019631;CH471077;CR542036;CR749208;DA547106;DA689198;DA871584;DC362382;DC428780;NG_029863;NM_001243891;NM_001243892;NM_001243894;NM_001243895;NM_003288;NM_199359;NM_199360;NM_199361;NM_199362;NM_199363;NR_045090 AAC98477;AAC98478;AAH06804;AAQ95044;AAV38437;ABM82047;ABM85226;BAB93483;BAD96751;BAG37101;BAG51460;BAG56865;BAG59585;BAG60608;CAG46833;CAH18065;EAW75194;EAW75195;EAW75196;EAW75197;EAW75198;EAW75199;EAW75200;EAW75201;NP_001230820;NP_001230821;NP_001230823;NP_001230824;NP_003279;NP_955391;NP_955392;NP_955393;NP_955394;NP_955395;O43399 Hs.473296 1676784;1691188 RH74935;RH91387 D54;DKFZp686A1765;TPD54;hD54 HCCR-binding protein 2;OTTHUMP00000031612;OTTHUMP00000031613;OTTHUMP00000031614;OTTHUMP00000031615;OTTHUMP00000031616;OTTHUMP00000031617;tumor protein D54 APPROVED protein-coding ENSG00000101150 HGNC:12007 11947 603747 REVIEWED 1323455 TPGS1 tubulin polyglutamylase complex subunit 1 ENCODES a protein that exhibits microtubule binding (inferred); tubulin-glutamic acid ligase activity (inferred); INVOLVED IN adult behavior (inferred); multicellular organismal development (inferred); protein polyglutamylation (inferred); FOUND IN centrosome; INTERACTS WITH pirinixic acid (ortholog) 19 19 19 p13.3 297964 310121 - 507497 519654 + 507497 519654 + 6480464 11441184;12477932;12972506;14702039;15489334;16341674;21139048;21890473;21963094;23443559;24250222 91978 Q6ZTW0 ABBA01002566;ABBA01002567;ABBA01002568;AC005775;AC011531;AK126170;AMYH02035111;BC009520;BM846833;CH471242;NM_033513 AAH09520;AAI48688;AAI52802;BAC86469;EAW61192;EAW61193;NP_277048;Q6ZTW0 Hs.369613 C19orf20;GTRGEO22;PGs1 gene trap ROSA b-geo 22 APPROVED protein-coding ENSG00000141933 HGNC:25058 12701 VALIDATED 1321554 TPGS2 tubulin polyglutamylase complex subunit 2 This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012] 18 18 18 q12.2 31185470 31218594 - 34359513 34409179 - 36779555 36829678 - 737633;6480464;8554872 12477932 15221005;15334068;15489334;15890843;16189514;16341674;21906983;21963094;23251661;24347629 25941 K7EJA6;K7EK44;K7EKC0;K7ELA6;K7EN50;K7ENZ9;K7EP30;K7ERK3;Q68CL5 AA677381;AB073382;ABBA01022427;AC009854;AC090333;AK000543;AK295817;AL050225;AMYH02034570;AW206050;AY598336;BC015178;BC022199;BC087845;BG420782;BG723541;BM796279;BQ670058;BU543495;BU627145;BX107606;CA425930;CH471088;CX783476;DA512668;NM_001271949;NM_001271950;NM_001271951;NM_001271952;NM_001271953;NM_001271954;NM_001271955;NM_001271956;NM_015476;XM_005258242;XR_243849 AAH15178;AAH22199;AAH87845;AAT06747;ADZ15780;BAD38633;BAG58634;CAB43322;EAX01383;EAX01384;EAX01385;EAX01386;NP_001258878;NP_001258879;NP_001258880;NP_001258881;NP_001258882;NP_001258883;NP_001258884;NP_001258885;NP_056291;Q68CL5;XP_005258299 Hs.436636 1661333;1676750;2119882;2143120 RH25799;SGC33337;SHGC-57062;WI-13694 C18orf10;DKFZp586M1523;HMFN0601;HsT3006;L17;PGs2 APPROVED protein-coding ENSG00000134779 HGNC:24561 12684 REVIEWED 1604844 TP63 tumor protein p63 This gene encodes a member of the p53 family of transcription factors. An animal model, p63 -/- mice, has been useful in defining the role this protein plays in the development and maintenance of stratified epithelial tissues. p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. Both alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different proteins. Many transcripts encoding different proteins have been reported but the biological validity and the full-length nature of these variants have not been determined. [provided by RefSeq, Jul 2008] 3 3 3 q28 187783803 188042610 + 189348942 189615068 + 189631160 189897279 + 2315431;2315433;2315430;1600403;2315432;2315434;2315435;2315436;6480464;7240710;8554872;8663431;8663430;8699517 10535733;16804722;17189982;17982114;17998283;18955789;19402389;19690775;22713868;23263379 10373484;10469295;10485447;10657951;10744705;10805802;10839977;10935472;11106548;11159940;11181441;11181451;11238924;11248048;11278685;11336476;11462173;11477076;11528512;11532371;11641404;11714701;11727253;11733180;11739646;11787035;11839669;11879774;11893750;11925430;11929852;11932750;11957139;12037717;12086851;12102658;12161593;12185332;12357472;12358808;12368193;12374749;12379767;12379768;12446779;12446784;12477932;12481011;12525544;12533521;12534798;12640112;12653579;12692135;12750249;12782800;12788532;12815266;12939657;12954772;12969350;14519656;14555649;14599865;14654522;14654529;14656652;14684701;14729977;14757278;15001991;15024707;15201986;15254760;15339933;15359011;15367673;15389254;15467455;15489334;15489655;15529180;15539951;15551738;15578720;15611636;15761962;15846104;15875781;15922574;15944736;15965232;15983386;15988020;15988026;16007146;16082248;16133456;16152605;16181796;16187309;16258268;16273188;16273287;16283378;16319057;16319531;16322335;16324199;16343436;16375115;16398404;16406339;16410722;16413471;16417229;16446369;16449968;16462763;16481749;16516862;16575619;16581802;16616891;16618808;16630179;16646404;16679535;16681687;16681688;16715076;16740912;16831876;16842248;16908849;16979518;17018588;17050669;17106255;17159913;17172858;17188034;17276940;17312919;17336302;17385050;17392828;17399686;17404570;17446929;17498688;17499344;17521434;17525625;17581882;17582001;17599745;17606614;17609671;17615180;17637746;17637751;17688405;17716971;17822623;17880529;17903252;17905096;17915261;17951196;17965458;17984111;18029348;18037962;18048390;18064689;18085379;18087216;18192965;18194839;18198175;18199584;18203782;18246802;18256694;18256893;18311114;18317223;18328806;18330953;18364388;18411264;18412244;18418053;18432259;18483491;18515319;18593911;18603493;18615589;18626511;18633439;18662989;18676680;18726671;18769144;18792980;18794855;18801085;18806757;18813120;18813784;18831009;18833815;18927586;18937546;18971778;19032382;19049519;19068396;19089994;19092634;19119599;19124002;19142959;19160863;19170196;19188816;19239083;19239089;19267405;19278431;19282665;19342891;19345189;19347829;19353588;19369629;19430419;19450441;19451233;19458633;19517019;19526317;19530185;19577853;19578750;19586494;19622632;19625176;19668228;19676060;19690760;19692168;19700772;19725154;19773378;19781362;19815500;19829080;19843673;19858204;19898465;19898932;19903181;19920075;20016275;20023394;20038814;20052674;20081800;20085233;20100581;20107313;20145131;20150431;20182342;20189848;20211142;20219920;20298673;20308539;20348956;20357260;20379195;20379614;20403333;20410354;20424325;20442293;20445549;20457941;20463571;20523354;20556892;20571051;20607803;20613985;20634891;20638300;20644729;20656547;20714441;20729916;20829881;20855944;20871597;20888799;20950370;20951678;20959455;20962848;20972438;20972454;21036415;21042780;21048031;21063684;21075072;21078104;21088494;21088498;21114965;21115930;21127199;21129360;21150337;21164283;21170261;21181306;21191146;21204238;21234707;21289519;21299870;21300884;21317427;21317878;21319317;21325799;21325887;21326813;21356385;21363924;21364617;21367858;21373745;21402718;21417823;21427767;21434540;21447682;21464285;21478550;21511729;21520071;21527555;21576089;21586512;21610222;21623182;21623385;21631272;21631996;21637289;21643019;21646640;21652629;21674157;21690062;21703418;21705376;21715473;21717589;21725308;21741828;21760596;21765392;21777423;21789189;21802344;21821031;21833468;21880709;21881870;21897369;21898830;21933882;21959367;21965674;21967648;21980285;21986963;21988832;22007675;22020940;22027432;22053213;22056305;22056955;22065540;22069181;22071691;22075982;22076464;22096589;22100306;22158419;22184109;22228303;22240899;22247000;22247550;22249251;22253920;22257901;22287651;22310392;22342398;22356768;22361733;22364861;22367298;22367405;22406481;22441934;22452794;22489697;22491513;22496164;22496369;22538425;22538442;22549865;22553810;22573176;22574117;22575646;22577164;22607287;22623071;22659744;22672905;22673192;22690848;22706304;22740388;22787154;22797724;22855598;22901151;22902906;22935697;22943673;22949650;22951905;22963430;22964638;23015401;23016917;23019126;23028944;23029228;23054955;23071680;23095717;23128396;23143601;23219093;23221041;23229819;23235527;23239884;23243027;23243311;23246965;23250869;23318911;23319821;23324337;23362460;23370280;23376119;23418554;23420876;23442358;23463580;23489692;23521708;23528865;23548208;23574722;23589096;23589370;23626008;23658742;23665236;23687300;23703390;23736768;23774168;23831023;23837456;23867503;23904595;23906991;23924346;23924630;23940783;24070899;24092572;24117128;24163127;24177167;24207093;24213852;24220032;24225752;24225756;24228118;24258200;24310252;24314177;24316488;24350278;24366874;24398967;24415949;24418859;24449888;24457968;24466311;24590290;24594999;24669837;24746200;24983500;25119911;8695800;8889548;9405685;9618472;9662346;9662378;9703973;9774969;9799226;9799841 8626 C9D7D0;C9JW72;Q9H3D4 AB010153;AB016072;AB016073;AB042841;ABBA01058338;ABBA01058339;ABBA01058340;ABBA01058341;ABBA01058342;AC063939;AC078809;AC117486;AF075428;AF075429;AF075430;AF075431;AF075432;AF075433;AF091627;AF116769;AF116770;AF116771;AF124539;AF124540;AJ315499;AK304127;AMYH02008398;AMYH02008399;AMYH02008400;AY339663;AY341143;AY341144;AY342152;AY342153;AY342154;BC039815;CB241431;CH471052;GQ202689;GQ202690;JB741146;KF457727;NG_007550;NM_001114978;NM_001114979;NM_001114980;NM_001114981;NM_001114982;NM_003722;XM_005247843;XM_005247844;XM_005247846;Y16961 AAC43038;AAC62633;AAC62634;AAC62635;AAC62636;AAC62637;AAC62638;AAF43486;AAF43487;AAF43488;AAF43489;AAF43490;AAF43491;AAF43492;AAF43493;AAF61624;AAG45607;AAG45608;AAG45609;AAG45610;AAG45611;AAG45612;AAH39815;AAQ63448;AAQ63449;AAQ63450;AAQ63451;AAQ63452;AAQ63453;AAQ63454;ABZ92198;ACV53609;ACV53610;BAA32433;BAA32592;BAA32593;BAB20591;BAH14112;CAA76562;CAC48053;CDI30201;EAW78112;EAW78113;EAW78114;EAW78115;EAW78116;EAW78117;EAW78118;EAW78119;EAW78120;NP_001108450;NP_001108451;NP_001108452;NP_001108453;NP_001108454;NP_003713;Q9H3D4;XP_005247900;XP_005247901;XP_005247903 Hs.137569 1341526;1653872;1668526;1721081;1751947;1763243;1793684;1793686;2126078;2152364 D3S2398;D3S2481;D3S3422;G33179;G59523;PMC25851P1;PMC25851P2;SHGC-105974;SHGC-146972;WI-11062 AIS;B(p51A);B(p51B);CUSP;EEC3;KET;LMS;NBP;OFC8;RHS;SHFM4;TP53CP;TP53L;TP73L;p40;p51;p53CP;p63;p73H;p73L OTTHUMP00000209732;OTTHUMP00000209733;OTTHUMP00000209734;OTTHUMP00000209735;OTTHUMP00000209737;OTTHUMP00000209738;OTTHUMP00000209739;OTTHUMP00000209740;OTTHUMP00000209741;OTTHUMP00000209742;OTTHUMP00000209743;OTTHUMP00000209744;amplified in squamous cell carcinoma;chronic ulcerative stomatitis protein;keratinocyte transcription factor KET;transformation-related protein 63;tumor protein 63;tumor protein p53-competing protein;tumor protein p53-like;tumor protein p63 deltaN isoform delta;tumor protein p73-like APPROVED protein-coding ENSG00000073282 HGNC:15979 04469 103285;106260;129400;603273;603543;604292;605289 REVIEWED 3207650 TPI1P1 triosephosphate isomerase 1 pseudogene 1 1 1 1 p31.1 75404914 75406130 + 77165440 77166710 + 76699755 76701025 + 16201836;21145461;21963094;23862649;4022011 729708 Q2QD09 ABBA01074408;AC104458;AMYH02001290;DQ120711;NG_008262 ABC40670 1677788;1750239;2180598;5092778 D1S3365;G32324;RH67005;SHGC-112601 RCTPI1 pseudo HGNC:35449 INFERRED 736716 TPH2 tryptophan hydroxylase 2 This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. The human genome contains two related tryptophan hydroxylases, one on chromosome 11p15-p14 and one on chromosome 12q21. This gene is expressed predominantly in the brain stem. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Jul 2008] 12 12 12 q21.1 71995911 72089543 + 72332626 72426221 + 71938846 72032441 + 633509;1580863;5686352;5686356;5686360;6480464;5686358;5686361;6907045;7240710;8554872 12511643;15768392;16240163;16958027;17123728;17675372 12477932;14563478;14702039;15052272;15124006;15167691;15197398;15263906;15476687;15629698;15840421;15940290;15968084;16044172;16116490;16245070;16395128;16401665;16436194;16581035;16610949;16610957;16759340;16801378;16806105;16864580;16894395;16936760;17011525;17015812;17123708;17167340;17176491;17176492;17192895;17217922;17221847;17251907;17335389;17346350;17408646;17413454;17453063;17539919;17568567;17592484;17604842;17649681;17692928;17768266;17892388;17905754;17972101;17973628;17986837;18163388;18180753;18180764;18181017;18213624;18234415;18270970;18293859;18314252;18339632;18347598;18387780;18405071;18427560;18436425;18496129;18782386;18797398;18801407;18821565;18826444;18832011;18937842;19032713;19032968;19052197;19058789;19071164;19077664;19125159;19125211;19132526;19156168;19162119;19170664;19175813;19181488;19184136;19233335;19272410;19319927;19328558;19344641;19352218;19352219;19356604;19361870;19365399;19434366;19445671;19506906;19548263;19588223;19590397;19674121;19679166;19693267;19734157;19742166;19748542;19763617;19781560;19800079;19816759;19829168;19874574;19894072;19913121;20043001;20052688;20064585;20124538;20126463;20144688;20213726;20331984;20346360;20379614;20396435;20403506;20446882;20451217;20468064;20470849;20515362;20623453;20628086;20628266;20633049;20738857;20740293;20856248;20869124;20921119;20938755;20946355;21049304;21073637;21085052;21105877;21182896;21198324;21257271;21396719;21418060;21418063;21457069;21620479;21621273;21747395;21829912;21873838;21946031;21969281;22072571;22322887;22342331;22361444;22365257;22392150;22483952;22491354;22649797;22655589;22693556;22698518;22698779;22721547;22835848;22868061;22915309;23032942;23182718;23239044;23247084;23300701;23313272;23334703;23360517;23461725;23467366;23552096;23628433;23684859;23716677;23965265;23992289;23995203;24033289;24260145;24458851;25015289 121278 Q14CC5;Q8IWU9 ABBA01026503;AC090109;AK094614;AMYH02026743;AY098914;BC114442;BC114499;CH471054;NG_008279;NM_173353;XM_005268642;XR_245894 AAI14443;AAI14500;AAM28946;BAC04385;EAW97277;EAW97278;EAW97279;NP_775489;Q8IWU9;XP_005268699 Hs.736576 1770916 D12S1318 ADHD7;FLJ37295;MGC138871;MGC138872;NTPH OTTHUMP00000241772;neuronal tryptophan hydroxylase;tryptophan 5-hydroxylase 2;tryptophan 5-monooxygenase 2 APPROVED protein-coding ENSG00000139287 HGNC:20692 09594 607478;608516;613003 REVIEWED 737023 TPI1 triosephosphate isomerase 1 This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 12 12 12 p13 8593870 8597397 + 6976288 6980110 + 6867420 6870946 + 1599584;1300048;6480464;6907045;7240710;8699517;8554872 9338582 10575546;10655478;10677844;11698297;12023819;12051920;12359716;12477932;1339398;14743370;15146421;15161933;15358119;15489334;15952740;1602151;16086671;16169070;16196087;16502470;16582619;16807684;16916647;17008404;17015754;17064784;17081983;17183658;18309519;18510744;18562316;18792062;19056867;19405953;20020773;20029029;20195357;20233700;20374271;20471030;20546019;20849852;21044950;21081666;21139048;21145461;21215915;21319273;21565611;21651995;21698479;21800051;21832049;21890473;21900206;21906983;21963094;21987572;22053931;22079093;22304920;2243103;22505724;22536838;22623148;22797925;22810585;22939629;22990118;23000965;23233058;23736541;23862649;23874603;24056040;24457600;24583282;24598263;24654937;2579079;2876430;2925688;4022011;6434534;7821789;8061610;8125298;8503454;8571957;858628;8609635;8723724;9074930;9150946;9150948;9850739 7167 P60174;Q53HE2;U3KPS5;U3KPZ0;U3KQF3;V9HWK1 ABBA01017662;AK129488;AK222638;AK298809;AK300661;AK313282;AMYH02025956;AW250466;BC007086;BC007812;BC009329;BC011611;BC015100;BC017165;BC017917;BC018899;BC070129;CH471116;CR541702;D28460;DB444195;EU794668;HB933985;HB949917;HB963720;HC991394;HD007327;HD021130;J04603;M10036;NG_011948;NM_000365;NM_001159287;NM_001258026;U47924;X69723 AAB51316;AAB59511;AAH07086;AAH07812;AAH09329;AAH11611;AAH15100;AAH17165;AAH17917;AAH70129;AAN86636;ABM84175;ABM87577;ACJ13722;BAA05826;BAD96358;BAG36090;BAG62347;BAH12874;CAA49379;CAG46503;CBG01859;CBG09649;CBG16464;CBV15379;CBV23171;CBV29910;EAW88721;EAW88722;EAW88723;NP_000356;NP_001152759;NP_001244955;P60174 Hs.524219 1677788;1742891;1743993;1776040;2113994;2126821;2141171;2180598;2218870;5092778 D1S3365;G32324;GDB:214819;GDB:384743;RH67005;RH78311;SHGC-32489;STS-M10036;TPI1;USP5__5052 HEL-S-49;MGC88108;TIM;TPI;TPID OTTHUMP00000165244;epididymis secretory protein Li 49;triose-phosphate isomerase;triosephosphate isomerase APPROVED protein-coding ENSG00000111669 HGNC:12009 01833 190450;615512 REVIEWED 3476539 TPI1P3 triosephosphate isomerase 1 pseudogene 3 6 6 6 q22.1 117102365 117103578 + 116359894 116361107 + 116038731 116039944 + 16344560 728402 ABBA01026047;AL357141;AMYH02014348;DB021992;NR_027338 Hs.729953 1677788 RH67005 pseudo HGNC:38070 PROVISIONAL 4109586 TPI1P4 triosephosphate isomerase 1 pseudogene 4 4 4 4 p11 49466702 49467613 - 49018285 49019196 - 49016268 49017179 - 9847074 728629 ABBA01014355;AC020593;AMYH02009177;NG_011550 pseudo HGNC:38071 INFERRED 735482 TPH1 tryptophan hydroxylase 1 This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others.[provided by RefSeq, Apr 2009] 11 11 11 p15.3-p14 18174092 18194347 - 18042084 18062354 - 18020537 18040788 - 1580457;1580458;1580459;1580460;1580461;1580462;1580463;1580464;1580465;1580466;1580467;1580468;1580469;1580863;6480464;5686347;5686352;5686357;5686349;5686354;5686344;5686348;5686345;6907045 11496362;12915291;15182943;15211625;15544576;15635702;15654285;15722951;15799788;16165107;16314762;16389593;16495936;16538180;17134762;17675372;18794762;20921119;21192222;21308753;21518801 10217286;10421874;10525150;11121198;11140838;11150890;11274651;11324941;11326294;11343598;11343864;11426508;11444684;11449402;11472792;11496367;11526473;11576585;11578639;11597824;11747434;11772685;11992558;12039872;12116191;12116193;12208565;12354289;12379098;12399958;12406341;12476329;12477932;12502014;12860364;12877392;12960746;14504413;14559114;14583797;1463016;14681922;14698468;14706424;14998306;15052272;15135070;15168220;15241435;15242065;15274037;15475734;15489334;15627807;15670397;15727508;15808291;15925123;16109589;16257348;16302021;16319504;16389591;16450114;16467214;16682118;16716203;16741719;16806098;16806099;16822601;16848783;16958027;17026953;17066254;17116352;17194593;17203304;17221847;17406648;17509016;17521439;17548152;17768266;17870198;17884826;17986837;18177948;18181017;18221792;18270970;18332644;18366104;18402117;18405062;18405071;18502553;18506706;18562131;18583979;18813430;18826425;18937498;18977032;18982004;19032713;19032968;19052197;19077664;19086053;19095219;19181488;19220488;19233335;19241972;19339052;19365399;19367581;19381154;19445671;19455600;19474754;19500158;19506906;19526457;19590397;19649213;19734157;19744316;19816759;19874574;19874868;19913121;19939457;19961731;20010449;20022223;20043001;20046373;20046510;20144688;20198979;20213726;20346360;20396435;20421849;20468064;2055111;20580984;20628086;20628266;20734064;20945066;21073637;21601290;21832049;21836641;21989108;22053918;22323131;22429480;22483952;22697203;22781862;23088179;23157339;23172723;23177301;23182718;23313272;23328530;23563356;23597148;2377472;24060757;24280759;2889273;7499362;7876115;7986090;8101440;9109552;9751214 7166 E7EMX4;E9PR49;P17752 ABBA01061060;AC055860;AF057280;AMYH02024385;AY196344;AY196345;AY196346;BC106739;BC106740;BM451912;BP423529;CH471064;EU796629;EU796634;EU796639;EU796644;EU796649;EU796654;EU796659;EU796664;EU796669;EU796674;KF455332;NG_011947;NM_004179;X52836;X83213 AAC69458;AAC69459;AAI06740;AAI06741;AAO72074;AAO72075;AAO72076;ACE96108;ACE96113;ACE96118;ACE96123;ACE96128;ACE96133;ACE96138;ACE96143;ACE96148;ACE96153;CAA37018;EAW68420;EAW68421;EAW68422;NP_004170;P17752 Hs.591999 1664419;1742551 GDB:197867;TPH MGC119994;TPRH;TRPH L-tryptophan hydroxylase;OTTHUMP00000232851;indoleacetic acid-5-hydroxylase;tryptophan 5-hydroxylase 1;tryptophan 5-monooxygenase 1;tryptophan hydroxylase;tryptophan hydroxylase (tryptophan 5-monooxygenase) APPROVED protein-coding HGNC:12008 01846 191060 REVIEWED 3005500 TPI1P2 triosephosphate isomerase 1 pseudogene 2 INTERACTS WITH arsenous acid; diarsenic trioxide 7 7 7 q32.1 123491770 123493786 + 128695277 128697293 + 129055223 129057239 + 6480464 12477932;12690205;14702039;15489334;20677014;23740937;4022011 286016 AA905085;ABBA01057646;AC018639;AK094894;AMYH02016725;BC053624;CH236950;CH471070;NG_023428;NR_002187 BAG52948;EAL24104;EAL24105;EAW83711 Hs.369665 pseudo HGNC:38069 VALIDATED 1316062 TP73 tumor protein p73 This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011] 1 1 1 p36.3 2823557 2904508 + 3569129 3652765 + 3652565 3736201 + 1580863;1599583;2291831;2291830;2291837;2290584;2290587;2290585;2291835;2291842;2290492;2290586;2291838;2290590;2290582;2290588;2291833;2291834;2291836;2298528;2298530;2298529;2290583;2290589;6480464;6907045;8663431;8663430;8554872 10383132;10634515;10760569;11051237;11103943;11139314;11720444;11870517;12928725;15492805;15492852;15716325;15723718;16254107;16818688;16928264;17011986;17353261;17446929;22713868;23263379;9288759;9796703 10102633;10203277;10207051;10221564;10362363;10373484;10381648;10391249;10391250;10391251;10400412;10419905;10435614;10449409;10469568;10509157;10574463;10648616;10744705;10802655;10873608;10961991;11101847;11223036;11238924;11275986;11278685;11279015;11389695;11470228;11675903;11706030;11709703;11720435;11748232;11753569;11788901;11804596;11832207;11839584;11840343;11844794;11844800;11859407;11891335;11897798;11909952;11920588;11925430;11957139;11988839;12023887;12032848;12034725;12080043;12082536;12095638;12097319;12133444;12150978;12154353;12164325;12167641;12213815;12353228;12388104;12427762;12430182;12477932;12519788;12534345;12546528;12584188;12601175;12639967;12642871;12676926;12730672;12732139;12750388;12761493;12766778;12782576;12789260;12810679;12824179;12841870;12853970;12875622;12890487;12901798;12920125;12934108;12954612;12954772;12969350;14511408;14522906;14614455;14618632;14634023;14654522;14654547;14678968;14701724;14719122;14729977;14732927;14757278;14760085;15033688;15066318;15070730;15077164;15081420;15138575;15161684;15175114;15175157;15180941;15184504;15291355;15302867;15339933;15359011;15360002;15390192;15450420;15454570;15466174;15475076;15483136;15489334;15558019;15572378;15572666;15578704;15598310;15609309;15650240;15678106;15723830;15734740;15737644;15741235;15769743;15813917;15844599;15849742;15865923;15865927;15877106;15893728;15919663;15921610;15975558;15978938;15985436;16044147;16087177;16087678;16110322;16135803;16170377;16181796;16195739;16203738;16205639;16235026;16290057;16343436;16344560;16397624;16413471;16430884;16434604;16436381;16449968;16512489;16580132;16601753;16636659;16645632;16710414;16721041;16738062;16741250;16750013;16814250;16815295;16831876;16869745;16950799;16953234;16980297;16998810;17013834;17018588;17047653;17058198;17094900;17110958;17136456;17150106;17169329;17297437;17304243;17336302;17346710;17347683;17385050;17428654;17452332;17496887;17592138;17611664;17617876;17626635;17690711;17693405;17695396;17716971;17761206;17825253;17889669;17912537;17952118;17982488;18022156;18049450;18174154;18234963;18239687;18259191;18260640;18280240;18289041;18342333;18343378;18350258;18362891;18418051;18421303;18469517;18477895;18480060;18499675;18546269;18555006;18565851;18573881;18579560;18593586;18640976;18678646;18701437;18701449;18719392;18922894;18950845;18978678;18988287;19008096;19008105;19012493;19016816;19020940;19074885;19096009;19106635;19109226;19111660;19119599;19139399;19148480;19158275;19173293;19182530;19188449;19197996;19204927;19218448;19293798;19360352;19386249;19390575;19423161;19426493;19442657;19490146;19509292;19509552;19523927;19541822;19576172;19581013;19581926;19585505;19597475;19657586;19666006;19671150;19690970;19727727;19763140;19763917;19777343;19779497;19789190;19815500;19851296;19861536;19876867;19885566;19947923;19952113;19956069;20010785;20081800;20100536;20146801;20185758;20198315;20211107;20298673;20305378;20308539;20336668;20471636;20528922;20530692;20540768;20581467;20588255;20615966;20644561;20644729;20644956;20675383;20676143;20733477;20803057;20807285;20807817;20842728;20844987;20845513;20926182;21048031;21088494;21093410;21109973;21114965;21127199;21127500;21129776;21139048;21146529;21212274;21233848;21245298;21261729;21290209;21344162;21380933;21399658;21402718;21427767;21443127;21482671;21502193;21516125;21573788;21617940;21672615;21711160;21717430;21725362;21738216;21801448;21807636;21811875;21837762;21852228;21873427;21891782;21903324;21906983;21933556;21933882;21946516;21976716;21979586;21994467;22011187;22075982;22076304;22201672;22228141;22240899;22340593;22389451;22419114;22430213;22449255;22455848;22457351;22474346;22496369;22508983;22523600;22534503;22535334;22538442;22589738;22702391;22718761;22728462;22729911;22833565;22873408;22917970;22952705;22964633;22971533;22974165;22981223;22990118;23001041;23055192;23065572;23085759;23095717;23188674;23193016;23228853;23243311;23271007;23338942;23362263;23384909;23386643;23414597;23443851;23446842;23447575;23538419;23667531;23717592;23799104;23828567;23880825;23913810;23919926;23965876;24052075;24067531;24121663;24127039;24135282;24213852;24225749;24249729;24314664;24382691;24404147;24550385;24576672;24845566;24983500;25034213;9296498;9537234;9721206;9802988;9891077 7161 O15350 AB031234;AB055065;AB055066;ABBA01073653;ABBA01073654;ABBA01073655;AF077616;AF077618;AF077619;AF077620;AF077621;AF077625;AF077626;AF077627;AF077628;AF079082;AF079083;AF079084;AF079085;AF079086;AF079087;AF079088;AF079089;AF079090;AF079091;AF079092;AF079093;AF079094;AF235000;AI094238;AK295669;AK302118;AK304177;AK304784;AK310432;AL136528;AMYH02000137;AMYH02000138;AY040827;AY040828;AY040829;BC117251;BC117253;CH471130;DA439168;DA446656;DC345760;NG_017035;NM_001126240;NM_001126241;NM_001126242;NM_001204184;NM_001204185;NM_001204186;NM_001204187;NM_001204188;NM_001204189;NM_001204190;NM_001204191;NM_001204192;NM_005427;Y11416 AAC61887;AAD39696;AAI17252;AAI17254;AAK81884;AAK81885;AAK81886;ADR83099;BAB87244;BAB87245;BAH12150;BAH13630;BAH14127;BAH14257;CAA72219;CAA72220;CAA72221;EAW71463;EAW71464;EAW71465;EAW71466;EAW71467;EAW71468;NP_001119712;NP_001119713;NP_001119714;NP_001191113;NP_001191114;NP_001191115;NP_001191116;NP_001191117;NP_001191118;NP_001191119;NP_001191120;NP_001191121;NP_005418;O15350 Hs.192132 1298138;1664333;1732892;1763477;1763479;2191349;7185314 D1S1310;D1S468;MARC_17809-17810:1024936155:1;SHGC-147179;SHGC-147180;SHGC-74137 P73 OTTHUMP00000000662;OTTHUMP00000003477;OTTHUMP00000003478;OTTHUMP00000003479;OTTHUMP00000003480;p53-like transcription factor;p53-related protein APPROVED protein-coding ENSG00000078900 HGNC:12003 03587 601990 REVIEWED 1348190 TPK1 thiamin pyrophosphokinase 1 This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 q34-q35 138823074 139207017 - 144149034 144533488 - 144451941 144836395 - 1580863;6480464;6907045;8699517;8554872;7240710 10567383;11342111;11342117;12477932;12690205;12953792;1332781;14702039;15489334;15664409;16087053;16262001;16344560;17295612;18029348;19460752;20379614;22152682;23333304;23642734;3060175;3896163;6303095;9847074 27010 F5GZG6;F8VPB3;F8VRJ6;F8VVJ1;F8WCM7;Q6ZQX6;Q9H3S4 AACC02000041;AB028138;ABBA01033544;ABBA01033545;AC004534;AC004743;AC004833;AC004864;AC005677;AC074384;AC245152;AF297710;AK021810;AK026374;AK091736;AK128661;AK130640;AK289652;AK308693;AMYH02016976;AMYH02016977;AMYH02016978;AMYH02016979;AMYH02016980;AY206415;BC014552;BC040555;BC068460;BI770816;BX446289;CH471146;CR749248;DA135998;KF458633;NG_032112;NM_001042482;NM_022445;XM_005249970;XM_005249971;XM_005249972;XM_005249974;XM_006715924;XM_006715925 AAH40555;AAH68460;AAK01351;AAO38775;AAS00370;BAB15465;BAB20326;BAC87556;BAF82341;BAG52408;CAH18104;EAL24415;EAW80091;EAW80092;NP_001035947;NP_071890;Q9H3S4;XP_005250027;XP_005250028;XP_005250029;XP_005250031;XP_006715987;XP_006715988 Hs.660232 1340668;1691798;1699428;1707782;1718985;1720163;1851863;1856916;2115938;2157023;2168406;2168876;5014740;5037552;7186923 D17S610;D7S1925;D7S498;D8S2279;G42257;GDB:1317190;GDB:1317558;GDB:1317624;RH103305;RH123201;RH123992;RH65851;SHGC-52409;SHGC-82112 HTPK1;PP20;THMD5 OTTHUMP00000202345;OTTHUMP00000202346;OTTHUMP00000241315;placental protein 20;thiamine diphosphokinase;thiamine kinase APPROVED protein-coding ENSG00000196511 HGNC:17358 06967 606370;614458 REVIEWED 1605428 TPM2 tropomyosin 2 (beta) This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] 9 9 9 p13 35615536 35623601 - 35681990 35690583 - 35681993 35690056 - 6480464;6907045;7240710;8554872;8699517 10359609;11738357;11840567;12477932;12592607;1304342;14627618;1516138;15164053;15208309;15231748;15489334;15897890;16094730;1631061;17194691;17339586;17430991;17434307;17846275;18246790;18422639;19047562;19142688;19155175;19214762;19345583;19913121;20301436;20301465;20336778;20381070;20457903;2059197;20628086;20856200;20876399;21890473;21906983;21963094;22084935;22178446;22266860;22519952;22749895;22798622;22832343;22863883;22939629;22980765;23015096;2303454;23205574;23378224;23413262;23621580;23678273;23689010;23792823;24039757;24332808;24657080;24816145;3368322;3857586;3865200;7196531;7568216;7606936;7977374;8120097;8125298;8424456;8557685;9016781;9092943;9108196 7169 A7XZE4;P07951;Q5TCU3;Q5TCU8;U3KQK2;V9HW25 AA394062;ABBA01064988;AF209746;AI360640;AI660199;AJ572605;AK130045;AK223258;AK294522;AK300249;AK304803;AL133410;AMYH02019463;BC011776;BE294047;CH471071;EU106177;F24979;FJ224304;J05247;M12125;M12126;M74817;M75165;NG_011620;NM_001301226;NM_001301227;NM_003289;NM_213674;X06825;XM_005251566;XM_005251567;XM_005251568;XM_005251569;XM_005251570;XM_005251571;XM_005251572 AAA36773;AAA51842;AAA61229;AAA61230;AAB59509;AAF17621;AAH11776;ABM83834;ABM87158;ABU62930;ACI45996;BAD96978;BAG57733;BAG62015;BAG65553;CAA29971;EAW58354;EAW58355;NP_001288155;NP_001288156;NP_003280;NP_998839;P07951;XP_005251623;XP_005251624;XP_005251625;XP_005251626;XP_005251627;XP_005251628;XP_005251629 Hs.300772 1735850;1735882;2157658;2218108 D9S1002E;D9S1954;D9S984E;TPM2_2772 AMCD1;DA1;DA2B;HEL-S-273;NEM4;TMSB OTTHUMP00000021356;OTTHUMP00000021357;OTTHUMP00000021358;OTTHUMP00000021359;beta-tropomyosin;epididymis secretory protein Li 273;nemaline myopathy type 4;tropomyosin beta chain;tropomyosin-2 APPROVED protein-coding ENSG00000198467 HGNC:12011 11768 108120;190990;601680;609285 REVIEWED 1345455 TPM3P2 tropomyosin 3 pseudogene 2 20 20 20 q11.22 29211108 29253944 - 32498554 32501229 - 33910748 33913423 - 170555 ABBA01019216;AL034549;AMYH02036962;NG_001060 1337612;2180428 D20S878;Z94326 TPM5P;dJ1125A11.2 APPROVED pseudo HGNC:16556 INFERRED 1345461 TPM3P1 tropomyosin 3 pseudogene 1 7 7 7 q31.3 111419020 111421161 - 116610951 116613034 - 116970897 116972980 - 12213198;12853948;3024106 252956 ABBA01057803;AC106873;AF458661;AMYH02016634;CH236947;NG_005722 1803806;1805164;1988674;1988676;1988678;1988680;1988682;1988684;1988686;1988688;1988690;1988692;1988694;1988696;1988698;1988700;2057734;2093890;2093892 ECD02812;ECD03525;REN100041;REN65239;REN65240;REN65241;REN65242;REN65243;REN65244;REN65245;REN65246;REN65248;REN65250;REN65251;REN65252;REN65253;REN65254;stSG598308;stSG598309 TPM3L2 APPROVED pseudo HGNC:16350 INFERRED 737098 TPM1 tropomyosin 1 (alpha) This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008] 15 15 15 q22.1 40214544 40243825 + 63334838 63364114 + 63042639 63071915 + 1580447;1580863;6480464;6907045;7240710;8554872;8699517 15000344 10343096;11071908;11136687;11273725;11438684;11563548;11840567;11964245;12065096;12169652;12473556;12477932;12527301;12543979;12594734;12686598;12974739;13679858;14627618;14702039;14870975;15031138;15095301;15146197;1516138;15269838;15479242;15489334;15695827;15897890;16130169;16189514;16260624;16289162;1631061;16754800;17360712;17556170;17556658;17721995;17895359;17932326;1796905;17987659;18029348;18403758;18513529;18937355;19035361;19150014;19222994;19293840;19322201;19509158;19646950;19678923;19820697;19853701;19875404;19913121;1991513;20029029;20031618;20065163;20075843;20215591;20301486;20301725;20359594;20360068;20379614;20381070;20474083;20618440;20628086;20876399;20965760;21139048;21274714;21295541;21320446;2136742;21376702;21454502;21551322;21575865;2161834;21741356;21817107;21823217;21906983;21949785;22139419;22155441;22178446;22187526;22266860;22304920;22447464;22462493;22737252;22740512;22789852;22797925;22863734;22863883;22939629;22958892;22965424;22990118;23000965;23147248;23205574;23254774;23398456;23420843;23782526;23788249;23792823;24112450;24244333;24250222;24255178;2455687;24583282;24816145;278975;3138425;3336357;3336363;3548719;3611073;3857586;6746613;6822572;7568216;7780795;7835079;7898523;7916663;8205619;8327508;8424456;8523464;8886980;8987992;9016781;9092943;9108196;9822100 7168 B7Z596;B7Z722;D9YZV4;D9YZV5;D9YZV7;F5H7S3;H0YK20;H0YK48;H0YKJ4;H0YKP3;H0YKX5;H0YKZ6;H0YL42;H0YL52;H0YL80;H0YLS7;H0YN06;H0YNC7;H7BYY1;O15513;P09493;Q6ZN40 AB209041;ABBA01038920;AC079328;AF474156;AJ000147;AJ001055;AK055197;AK057989;AK092051;AK092573;AK129882;AK131384;AK298625;AK299387;AK301319;AK309170;AL050179;AMYH02030578;AY640414;AY640415;BC007433;BC050473;BC053545;BG107949;BX458841;CD679271;CH471082;CN423297;CN423344;DQ424903;GU324929;GU324930;GU324931;GU324932;GU324933;GU324934;GU324935;L02922;L02923;M19713;M19714;M19715;NG_007557;NM_000366;NM_001018004;NM_001018005;NM_001018006;NM_001018007;NM_001018008;NM_001018020;NM_001301244;NM_001301289;X12369;XM_005254637;XM_005254638;XM_005254639;XM_005254640;XM_005254641;XM_005254643;XM_005254644;XM_005254645;XM_005254646;XM_005254647;XM_005254648;XM_005254649;XM_005254650;XM_005254651;XM_005254652;XM_005254653;XM_006720667;XM_006720668;XM_006720669;XR_429470;Z24727 AAA16888;AAA16889;AAA61225;AAA61226;AAA61227;AAH07433;AAH50473;AAH53545;AAL84569;AAT68294;AAT68295;ABD83668;ABM84185;ABM87587;ACE87812;ACT64515;ADL14500;ADL14501;ADL14502;ADL14503;ADL14504;ADL14505;ADL14506;BAC85248;BAD18535;BAD92278;BAH12832;BAH13023;BAH13458;CAA03930;CAA04505;CAA30930;CAA80853;CAB43309;EAW77619;EAW77620;EAW77621;EAW77622;EAW77623;EAW77624;EAW77625;EAW77626;EAW77627;EAW77628;EAW77629;EAW77630;EAW77631;EAW77632;EAW77633;EAW77634;EAW77635;NP_000357;NP_001018004;NP_001018005;NP_001018006;NP_001018007;NP_001018008;NP_001018020;NP_001288173;NP_001288218;P09493;XP_005254694;XP_005254695;XP_005254696;XP_005254697;XP_005254698;XP_005254700;XP_005254701;XP_005254702;XP_005254703;XP_005254704;XP_005254705;XP_005254706;XP_005254707;XP_005254708;XP_005254709;XP_005254710;XP_006720730;XP_006720731;XP_006720732 Hs.133892;Hs.602995 1650112;1663337;1689406;1774079;1776599;1790311;1857516;2139156;2145223;2175513;2175515;2190787;5014051;5015506;5037552 A006I38;D10S2366;D15S1512;D8S2278;D8S2279;G20856;G30945;RH69090;RH69479;RH92957;SHGC-12376;SHGC-31495;SSC1E07;STS-D29134;TPM1 C15orf13;CMD1Y;CMH3;HTM-alpha;LVNC9;TMSA OTTHUMP00000163688;alpha tropomyosin;alpha-tropomyosin;cardiomyopathy, hypertrophic 3;sarcomeric tropomyosin kappa;tropomyosin 1 (alpha) isoform 1;tropomyosin 1 (alpha) isoform 2;tropomyosin 1 (alpha) isoform 3;tropomyosin 1 (alpha) isoform 4;tropomyosin 1 (alpha) isoform 5;tropomyosin 1 (alpha) isoform 6;tropomyosin 1 (alpha) isoform 7;tropomyosin 1, alpha;tropomyosin alpha-1 chain;tropomyosin-1 APPROVED protein-coding ENSG00000140416 HGNC:12010 01839 115196;191010;611878 REVIEWED 4145413 TPM3P6 tropomyosin 3 pseudogene 6 19 19 19 q13.42 51023982 51025065 + 53982536 53983619 + 53479282 53480365 + 3024106 653758 ABBA01068214;AC022137;AMYH02036425;NG_005727 1803806 ECD02812 pseudo HGNC:39169 INFERRED 4145504 TPM3P8 tropomyosin 3 pseudogene 8 2 2 2 q37.1 225212972 225215033 - 231436610 231438671 - 230571895 230573956 - 3024106 646839 ABBA01050125;AC010149;AC098823;AMYH02005954;NG_005720 pseudo HGNC:39171 INFERRED 4145475 TPM3P7 tropomyosin 3 pseudogene 7 2 2 2 p24.1 25871885 25873924 - 26031557 26033596 - 25808688 25810727 - 3024106 751599 ABBA01045155;AC064847;AMYH02003448;NG_005721 pseudo HGNC:39170 INFERRED 1604522 TPM3P9 tropomyosin 3 pseudogene 9 19 19 19 q13.42 50976646 50989348 + 53935227 53947925 + 53431974 53444672 + 12477932;14702039 147804 ABBA01068215;AC022137;AK094777;AMYH02036425;BC047783;BC061910;BX647962;NR_003148 Hs.433293 1803806;2192008 ECD02812;stSG609254 MGC71022 APPROVED pseudo ENSG00000241015 HGNC:44142 14075 VALIDATED 1605427 TPM3 tropomyosin 3 This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 1 q21.2 127199522 127236328 - 154127780 154164611 - 154155304 154192135 - 6480464;6907045;7240710;8554872;8699517 10216106;10587521;10619715;10807789;10871039;11106625;12105844;12163017;12176375;12196661;12467750;12477932;12665801;12805274;1286667;14627618;14702039;1516138;15302935;15489334;15527767;15822942;15888546;15953552;16130169;16189514;16236267;16236705;16263121;16297372;16344560;1649007;1653650;16710414;16838028;16916647;17081983;17353931;17376686;1796905;18029348;1829807;18300303;18382475;1850549;1850821;18699990;18781797;19322201;19405953;19487656;19738201;19953533;20012312;20179953;20223922;20301436;20301465;20308539;20356415;20381070;20876399;20951040;21036167;21072821;21139048;21145461;21319273;2161834;21890473;21900206;21906983;21963094;21988832;22053931;22145905;22158085;22178446;22266860;22327623;22505724;22740512;22792281;22798622;22863883;22939629;22990118;23000965;23398456;23752268;23792823;24244333;24457600;2455687;24583282;24816145;2538716;2594368;2869410;3018581;3024106;3418707;3472772;3477801;3865200;7568216;7590742;7663526;7704029;7956350;8002995;8120097;8167032;8293480;8424456;8886980;8889548;9092943;9108196 7170 B4DQ80;D6R904;D6RFM2;D6RGJ6;J3KN67;P06753;Q5HYB6;Q5VU59;Q5VU61 AA429717;AA863064;AB062125;ABBA01049475;AF474157;AJ573307;AK026559;AK056889;AK056921;AK056997;AK092690;AK092712;AK123113;AK123571;AK125367;AK298678;AK301674;AK308007;AK315504;AL537561;AL590431;AMYH02001918;AX405676;AY004867;AY271223;BC000771;BC008407;BC008425;BC015403;BC017195;BC050470;BC062740;BC072428;BC073144;BF967161;BG706843;BI546300;BM674269;BM674651;BQ933569;BU956481;BX419658;BX641075;BX648485;CH471121;CR997359;DA209890;DA472065;DA894064;DA900740;EU668324;FJ224335;M12128;NG_008621;NM_001043351;NM_001043352;NM_001043353;NM_001278188;NM_001278189;NM_001278190;NM_001278191;NM_152263;NM_153649;NR_103460;NR_103461;X04201;X04588;X79909;X79910;XM_006711515;XM_006711516;XM_006711517;XM_006711518;XM_006711519;XM_006711520;XM_006711521;XM_006711522;XM_006711523 AAA36775;AAF87083;AAH00771;AAH08407;AAH08425;AAH15403;AAH62740;AAH72428;AAL84570;ACF94477;ACI46027;BAB93457;BAC03946;BAC03956;BAG37888;BAG51839;BAG60842;BAG63147;CAA27798;CAB37185;CAD34783;CAI46046;EAW53229;EAW53230;EAW53231;EAW53232;EAW53233;EAW53234;EAW53235;EAW53236;EAW53237;NP_001036816;NP_001036817;NP_001036818;NP_001265117;NP_001265118;NP_001265119;NP_001265120;NP_689476;NP_705935;P06753;XP_006711578;XP_006711579;XP_006711580;XP_006711581;XP_006711582;XP_006711583;XP_006711584;XP_006711585;XP_006711586 Hs.535581;Hs.578978;Hs.644306;Hs.654421 1654042;1679329;1712559;1744597;1744599;1764783;1796994;1848183;2057728;2123092;2137090;5014051;5015619;5016596;5016851;5020740;5020885;5022578;5024290;5024413;5024770;5037552;5095942;5109281;5115539;5118718;5121991;5122085 D11S3114;D11S3590;D15S1278;D1S1423;D1S1425;D8S2278;D8S2279;ECD21592;G15887;GDB:545460;GDB:545462;GDB:631802;L17791;L17809;L17877;REN100037;REN65247;REN65249;RH41815;RH41905;RH47717;RH64675;RH70810;RH80031;SHGC-148353;TPM3_1292;U04541;stSG598307 CAPM1;CFTD;FLJ41118;HEL-189;HEL-S-82p;MGC14582;MGC3261;MGC72094;NEM1;OK/SW-cl.5;TM-5;TM3;TM30;TM30nm;TM5;TPMsk3;TRK;hTM5;hscp30 OTTHUMP00000034016;OTTHUMP00000034018;OTTHUMP00000034019;OTTHUMP00000034020;OTTHUMP00000034021;OTTHUMP00000034171;OTTHUMP00000034172;OTTHUMP00000034173;OTTHUMP00000218067;OTTHUMP00000218071;alpha-tropomyosin, slow skeletal;cytoskeletal tropomyosin TM30;epididymis luminal protein 189;epididymis secretory sperm binding protein Li 82p;gamma-tropomyosin;heat-stable cytoskeletal protein 30 kDa;tropomyosin alpha-3 chain;tropomyosin gamma;tropomyosin-3;tropomyosin-5 APPROVED protein-coding ENSG00000143549 HGNC:12012 01840 191030;255310;609284 REVIEWED 4145590 TPM3P5 tropomyosin 3 pseudogene 5 19 19 19 q13.2 38811831 38813951 + 42011984 42014104 + 41506068 41508188 + 3024106 644330 ABBA01040810;AC005795;AC243960;NG_005726 1805164 ECD03525 pseudo HGNC:39168 INFERRED 4145591 TPM3P4 tropomyosin 3 pseudogene 4 7 7 7 p15.2 27052210 27055021 + 27063289 27066099 + 27023670 27026480 + 22939629;23383273;23398456;3024106 402643 ABBA01056755;AC004079;AMYH02015407;CH236948;NG_005723 EAL24230 1817800;1826780;1827402;1827404;1830672;1833686;2057708;2057710;2057712;2057714;2057716;2057718;2057720;2057722;2057724;2057726;2057728;2057730;2057732;2057734;2057736;2057738;2057740;2057742;2057744;2057746;2192004;2192006;2192008;2192010 ECD09954;ECD14505;ECD14817;ECD14818;ECD16472;ECD17988;REN100027;REN100028;REN100029;REN100030;REN100031;REN100032;REN100033;REN100034;REN100035;REN100036;REN100037;REN100038;REN100039;REN100041;REN100042;REN100043;REN100044;REN100045;REN100047;REN100048;stSG609252;stSG609253;stSG609254;stSG609255 pseudo HGNC:39167 INFERRED 7241988 TPM4P1 tropomyosin 4 pseudogene 1 10 10 10 q24.2 95612146 95612715 - 101874178 101874747 - 100114421 100114990 - 644566 ABBA01063230;AL138921;AMYH02023650;NG_022157 pseudo HGNC:45234 INFERRED 1606372 TPMTP1 thiopurine S-methyltransferase pseudogene 1 18 18 18 q21.1 42005760 42007521 + 45156386 45158162 + 47630015 47631791 + 7628307 400650 ABBA01018623;AC037473;AMYH02034669;CH471096;NG_004077;U11424 AAC50129;EAW62913 1684319;1688883;1744499 GDB:511235;RH70558;RH79116 pseudo HGNC:17490 INFERRED 7174901 TPMTP2 thiopurine S-methyltransferase pseudogene 2 3 3 3 42126368 42127090 - 42187141 42187863 - 42145649 42146371 - 100420393 ABBA01024771;AC093414;AMYH02006623;NG_025569 pseudo HGNC:44565 INFERRED 7174762 TPMTP3 thiopurine S-methyltransferase pseudogene 3 X X X p11.22 56008243 56009032 + 51722319 51723108 - 51979223 51980012 - 100129277 ABBA01059945;AC239585;AL929410;AMYH02039375;NG_022601 pseudo HGNC:44566 INFERRED 7174764 TPMTP4 thiopurine S-methyltransferase pseudogene 4 X X X q21.2 85623433 85624127 - 85383898 85384592 - 86128894 86129588 - 100129298 ABBA01051748;AL035451;AMYH02039899;NG_022616 pseudo HGNC:44567 INFERRED 736665 TPM4 tropomyosin 4 This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 19 19 19 p13.1 16080322 16115740 + 16178317 16213815 + 16067507 16103003 + 6480464;6907045 10934142;11493472;11782456;12477932;12665801;1286667;14627618;14702039;15456888;15489334;16130169;16210410;16236705;16344560;16551573;17620599;17968984;1836432;18781797;20381070;20856200;20936779;21119665;21139048;21319273;21373848;21890473;21906983;22139419;22266860;22304920;22423221;22505724;22537621;22863883;22939629;23000965;23398456;23752268;23792823;23812729;23862649;24244333;24583282;24654937;24816145;3612796;3865200;8641132 7171 K7ELJ3;K7ELP0;K7EMU5;K7ENT6;K7EP68;K7EPB9;K7EPV9;K7EQW8;K7ERG3;P67936;V9HW56 ABBA01051127;ABBA01051128;ABBA01051129;ABBA01051130;AC008894;AF186109;AK023385;AK300136;AK301285;AK307538;AK315076;AMYH02035668;BC002827;BC037576;BC067225;BT019634;CH471106;DA032511;DC365500;FJ224305;M12127;NG_015841;NM_001145160;NM_003290;X05276;XM_005260042;XM_006722865 AAA36774;AAG17014;AAH02827;AAH37576;AAH67225;AAV38440;ACI45997;BAB14554;BAG37545;BAG61923;BAG62844;CAA28888;EAW84521;EAW84522;EAW84523;EAW84524;NP_001138632;NP_003281;P67936;XP_005260099;XP_006722928 Hs.631618 1341776;2154740;5113365 D19S885;RH98289;TM4 HEL-S-108;TM30p1 epididymis secretory protein Li 108;tropomyosin alpha-4 chain;tropomyosin-4 APPROVED protein-coding ENSG00000167460 HGNC:12013 11734 600317 REVIEWED 1350168 TPMT thiopurine S-methyltransferase This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014] 6 6 6 p22.3 19366550 19393384 - 18128542 18155374 - 18128311 18155143 - 1580863;6480464;7240710;8554872;8699517 10208641;10751626;11007234;11025471;11422006;11503013;11927101;11927834;12142782;12172211;12176518;12217596;12477932;12492733;12509611;12542916;12563179;12703994;12732844;12777968;12814450;12815366;12880540;12903038;12940924;12949626;12972954;14508387;14574404;14576848;14634700;14656901;14723818;14985890;14985891;14987117;15022030;15167635;15206995;15226671;15226673;15247157;15255798;15349717;15385838;15476481;15489334;15571264;15571267;15691505;15709212;15784872;15792824;15802809;15819814;15931768;15946151;15967990;15973722;16006997;16044099;16164497;16166171;16202677;16214825;16272700;16306100;16396707;16418693;16431304;16459728;16476125;16595084;16611274;16643135;16691038;16724002;16773681;16789994;16876902;16917910;16946561;16952345;17065060;17113562;17129980;17152495;17164697;17176368;17206640;17207965;17220558;17241387;17243178;17323057;17617792;17690215;17885628;17909762;17919375;18021342;18188716;18193212;18303966;18385010;18408566;18467186;18482735;18484748;18600549;18602085;18605963;18616518;18693152;18708949;18775689;18823306;18827410;18987654;18987660;19034904;19048244;19048245;19057372;19164342;19177822;19214663;19229528;19239109;19252404;19343046;19473575;19474452;19535798;19543639;19546880;19579612;19650826;19675376;19682085;19682195;19695401;19748501;19774638;19830600;19891552;19898482;19913121;19956635;20017316;20027160;20037211;20066544;20081263;20136357;20136364;20153897;20173083;20175804;20175817;20308917;20349237;20350137;20393862;20403997;20408054;20521035;20593505;20628086;20881512;20945351;20972624;21254844;21348397;21520983;21819368;21832049;21890473;21938428;22225964;22304581;22318545;22385887;22486532;22594254;22616585;22747506;22846425;22931646;22972540;23014567;23025308;23065291;23126166;23192017;23252704;23252716;23377985;23398787;23400745;23553048;23588304;23731044;23811272;23820299;23844534;23996738;24029750;24121523;24142665;24250222;24385893;24390675;24643197;24705376;24710034;24714787;24734162;24737678;24774509;24860591;24897283;25000470;25036765;25048487;7628307;7862671;8316220;8392551;8561894;8644731;8873214;9103127;9177237;9246020;9336428;9453052;9711875;9931345;9931346 7172 P51580;Q9BS45 AA746081;AA825975;AB045146;ABBA01022233;AF019364;AF019365;AF019366;AF019367;AF019368;AF019369;AF021876;AF021877;AF035426;AK310420;AL589723;AMYH02013218;BC005339;BC009596;BI598325;CH471087;DB481604;HY252883;HY300307;NG_012137;NM_000367;S62904;U12387;U30518;U81562;U81563;U81564;U81565;U81566;U81567;U81568;U81569;U81570;U81571;U81572;U81573 AAB27277;AAB71625;AAB71626;AAB71627;AAB71628;AAB71629;AAB71630;AAB71631;AAB71632;AAB71633;AAB71634;AAB71635;AAB71636;AAB80746;AAB80747;AAC32289;AAC50130;AAC50368;AAC51865;AAH05339;AAH09596;ADQ33207;BAA97037;EAW55393;EAW55394;EAW55395;EAW55396;EAW55397;EAW55398;EAW55399;NP_000358;P51580 Hs.444319 1678201;1684319;1688883;1698452;1744499;5024039;5037552;5117318 D16S325;D8S2279;GDB:462456;GDB:511235;RH102775;RH70558;RH79116;RH80825 OTTHUMP00000016076;S-adenosyl-L-methionine:thiopurine S-methyltransferase APPROVED protein-coding ENSG00000137364 HGNC:12014 01760 187680;610460 REVIEWED 1343731 TPPP2 tubulin polymerization-promoting protein family member 2 FOUND IN cytoplasm (inferred); INTERACTS WITH copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 14 14 14 q11.2 1359208 1361197 + 21498345 21500334 + 21030186 21036276 + 6480464 12477932;15489334;15590652;17105200;18029348 122664 D6R9S2;D6RIC1;H0Y8L2;H0YEZ3;H0YJP6;P59282 ABBA01061239;AL161668;AMYH02028827;AW135537;AY072034;AY173946;BC027610;BC038970;BC064583;CH471078;DB458250;NM_173846;XM_005267324;XR_429288 AAH38970;AAL62338;AAO49716;EAW66421;NP_776245;P59282;XP_005267381 Hs.406966 1681036 RH92395 C14orf8;CT152;P18;p25beta OTTHUMP00000028309;OTTHUMP00000231917;OTTHUMP00000245037;TPPP/p18;brain-specific protein p25-like;protein p25-beta protein-coding ENSG00000179636 HGNC:19293 12657 VALIDATED 1603717 TPP1 tripeptidyl peptidase I This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008] 11 11 11 p15 6753063 6759757 - 6633997 6640692 - 6612766 6619461 - 6480464;7240710;8554872;8699517 10330339;10477428;10617131;10679303;10737126;10740217;10965052;11054422;11241479;11339651;11462245;12125808;12134079;12376936;12414822;12477932;12488460;12643545;12698559;12754519;12950156;12975309;14609438;14702339;14736728;15143070;15158442;15317752;15342556;15489334;15520412;15582991;15733845;16091586;16168594;16518810;17081065;17237767;17500595;17690061;17959406;18411270;18552385;19038966;19038967;19056867;19201763;19246452;19748052;20301334;20301601;20340139;20672930;20689811;21139048;21461822;21784683;21829167;21833529;22016395;22268729;22832778;22939629;22989886;23103865;23249249;23266810;23418007;23509301;23587805;23862686;23956138;24260532;24513288;24516170;24654937;24780581;24816145;8125298;8215436;9295267;9653647;9989235;9989590 1200 E7EV34;E9PME9;E9PPA4;O14773 ABBA01028670;AC091564;AF017456;AF039704;AI023962;AK222499;AK222538;AK293518;AK293741;AK295801;AK299703;AK300998;AK303323;AK312388;AMYH02024271;AY268890;AY358502;BC014863;BP279860;BP287220;CH471064;CQ834690;NG_008653;NM_000391 AAB80725;AAC98480;AAH14863;AAQ72732;AAQ88866;ABM82608;ABM85793;BAD96219;BAD96258;BAG35305;BAG57000;BAG57164;BAG58620;BAG61604;BAG62617;BAG64389;CAH05560;EAW68685;EAW68686;NP_000382;O14773 Hs.523454 1336629;1337036;1737147;1775056;1793068;1850592 D11S1331;D11S3007;D11S4088;PMC193924P6;RH36325;WI-11808 CLN2;GIG1;LPIC;MGC21297;SCAR7;TPP-1 OTTHUMP00000164588;cell growth-inhibiting gene 1 protein;ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease);growth-inhibiting protein 1;lysosomal pepstatin insensitive protease;lysosomal pepstatin-insensitive protease;spinocerebellar ataxia, autosomal recessive 7;tripeptidyl aminopeptidase;tripeptidyl-peptidase 1;tripeptidyl-peptidase I APPROVED protein-coding ENSG00000166340 HGNC:2073 06415 204500;607998;609270 REVIEWED 1605400 TPPP tubulin polymerization promoting protein ENCODES a protein that exhibits tubulin binding; microtubule binding (ortholog); INVOLVED IN microtubule bundle formation; microtubule polymerization; positive regulation of protein polymerization; FOUND IN cytoplasm; microtubule; nucleus; INTERACTS WITH 17beta-estradiol; bisphenol A; valproic acid 5 5 5 p15.3 756043 773959 - 659977 693510 - 659862 693395 - 6480464 10083737;11781156;12093283;12477932;14623963;14702039;15489334;15564385;15590652;15822905;16879710;17027006;17105200;17693641;17823288;18025801;18028908;18029348;18204489;18311157;18728964;18854154;19382230;19698783;20228799;20308065;20849899;21565174;21616478;21832049;21857997;21900749;21988832;21995432;22083140;22326478;22328514;23161404;23355470;23727580;8889548 11076 O94811;Q4L233 AB017016;ABBA01034252;AC026740;AI796918;AK054920;AK098392;AMYH02010756;AW955330;AY319261;BC040496;BC131506;BC152382;BQ066916;BT020035;BU726600;CH471235;DB478250;DB546894;NM_007030;XM_005248237 AAH40496;AAI31507;AAI52383;AAQ96657;AAV38838;BAA36164;BAG51443;EAW51015;EAW51016;NP_008961;O94811;XP_005248294 Hs.481466 1651903;1670648 RH44504;WI-16049 TPPP/p25;TPPP1;p24;p25;p25alpha 25 kDa brain-specific protein;OTTHUMP00000161630;brain specific protein p25 alpha;glycogen synthase kinase 3 (GSK3) inhibitor p24;p25-alpha;tubulin polymerization-promoting protein protein-coding ENSG00000171368 HGNC:24164 18522 608773 VALIDATED 735786 TPO thyroid peroxidase This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011] 2 2 2 p25 1466953 1592423 + 1417233 1547445 + 1413461 1543673 + 1599648;1580863;1300048;6480464;6907045;7207487;7240710;7207483;8554872;8699517 19506389;7550241;8393543 10084596;10468986;10487692;10748076;11061528;11238503;11327880;11415848;11874711;11916616;12135610;12213873;12454013;12459031;12477932;12490071;12501244;12593722;12709678;12820316;12843174;12864797;12938097;12960013;1401057;14751036;15062578;15150267;15196594;15203218;15317218;15497454;15561711;15562032;15590661;15613581;15745925;15761037;16284446;16344560;16478776;16614712;16682284;16684826;16756464;16868133;16959834;17042691;1722671;17334650;17381485;17468186;17547680;17696828;17845204;17854396;17902201;18029348;18029453;18041648;18203013;18271683;18314161;18509003;18631006;18657294;18710471;19189706;19194833;19225535;19243353;19420105;19605678;19669106;19730683;19799084;19948975;19952225;19960894;20036902;20101889;20153806;20182447;20237496;20379614;20529857;20573721;20800603;20826581;20963560;21490078;21527831;21707688;21981063;22093430;22149743;22259066;22326521;22387573;22435912;22947910;2308857;23236987;23329183;23512414;23672306;23754668;2383265;23985426;24735383;2548579;3153466;3453124;3475693;3654979;67547;7759120;8027236;8196171;8964831;9024270;9814507;9924196 7173 C9J511;E9PFM6;H0Y6H4;H7BZH8;H7C1F5;H7C5B6;P07202;Q502Y3;Q6P534 AB208960;ABBA01003646;ABBA01003647;ABBA01003648;AC105450;AC108489;AC141930;AF439430;AF533528;AF533529;AF533530;AF533531;AK309868;AMYH02003172;AMYH02003173;AMYH02003174;AMYH02003175;AMYH02003176;AMYH02003177;AMYH02003178;AW874082;AY136822;BC063107;BC095448;BE046044;CB986756;CD608890;CH471053;DA958481;J02969;J02970;M17755;M25715;M55702;NG_011581;NM_000547;NM_001206744;NM_001206745;NM_175719;NM_175721;NM_175722;S46244;X17358;XM_005264698;XM_005264699;XM_005264700;XM_005264701;XM_005264702;XM_005264704;XM_005264705;XR_426959;Y00406 AAA61215;AAA61216;AAA61217;AAA61218;AAA61219;AAA97517;AAB23676;AAH63107;AAH95448;AAL74416;AAN04471;AAN04472;AAN04473;AAN04474;AAN11302;AAX82037;AAX93261;BAD92197;CAA35235;CAA68467;EAX01087;EAX01088;EAX01089;EAX01090;EAX01091;NP_000538;NP_001193673;NP_001193674;NP_783650;NP_783652;NP_783653;P07202;XP_005264755;XP_005264756;XP_005264757;XP_005264758;XP_005264759;XP_005264761;XP_005264762 Hs.467554 1655644;1741313;1741509;1742433;1742479;2116530;2168048;2173112;2189769 D2S1515E;D8S2035;GDB:180406;GDB:181259;GDB:196336;GDB:196990;GDB:197520;RH48044;TPOX MSA;TDH2A;TPX OTTHUMP00000115303;OTTHUMP00000115304;OTTHUMP00000115535;OTTHUMP00000115536;thyroid microsomal antigen;thyroperoxidase APPROVED protein-coding ENSG00000115705 HGNC:12015 06000 187950;274500;606765 REVIEWED 734318 TPP2 tripeptidyl peptidase II This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. [provided by RefSeq, Jul 2008] 13 13 13 q32-q33 84091643 84173864 + 103249286 103331524 + 102596936 102679174 + 1580863;6480464 10691692;12370345;12477932;14702039;15489334;15716107;16344560;1670990;16762321;16849449;1691635;17343995;17370265;17901116;18286573;1840501;19155470;19587004;20379614;21134372;21139048;21319273;21771670;21890473;21906983;22266401;22483107;22505724;22586326;22797925;22863883;22986808;24816145;25027693;3313395;7829101;8396212;8406500;8602240;9974389 7174 P29144;Q5VZU9 ABBA01027071;AK097678;AK127549;AK304313;AL158063;AMYH02028624;AMYH02028625;AU132468;BC024905;BC039905;BI492495;CH471085;M55169;M73047;NM_003291;XM_005254070;XM_005254071;XM_005254072;XM_005254073;XR_243046 AAA36760;AAA63263;AAH39905;BAH14156;EAX09059;NP_003282;P29144;XP_005254127;XP_005254128;XP_005254129;XP_005254130 Hs.432424 1337820;1658930;1798290;2169923;2184893;2189977;2189979;2189981 99-25151;99-25153;99-25161;D13S1256;D13S1464;RH17732;SGC32558;TPP2_1638 FLJ40359;TPP-2;TPP-II OTTHUMP00000018664;OTTHUMP00000018665;tripeptidyl aminopeptidase;tripeptidyl-peptidase 2;tripeptidyl-peptidase II;tripeptidylpeptidase ii APPROVED protein-coding ENSG00000134900 HGNC:12016 01834 190470 REVIEWED 1604620 TPPP3 tubulin polymerization-promoting protein family member 3 ENCODES a protein that exhibits tubulin binding; INVOLVED IN microtubule bundle formation; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene; bisphenol A; pirinixic acid 16 16 16 q22.1 51931912 51935621 - 67423710 67427449 - 67389807 67393546 - 6480464;8554872 10810093;10931946;12107411;12477932;15489334;15590652;17105200;17207965;19165527;19633818;21139048 51673 Q9BW30 ABBA01025435;AC009061;AF078846;AF132972;AMYH02032232;AW044067;BC000691;BC037798;BI754230;BI772576;BQ640401;CH471092;NM_015964;NM_016140;XM_005255979 AAD27747;AAD44478;AAH00691;ADQ33176;EAW83128;EAW83129;EAW83130;EAW83131;NP_057048;NP_057224;Q9BW30;XP_005256036 Hs.534458 2178808 D16S3321 CGI-38;TPPP/p20;p20;p25gamma OTTHUMP00000174811;OTTHUMP00000174812;brain specific protein protein-coding ENSG00000159713 HGNC:24162 16710 VALIDATED 6481368 TPRG1-AS2 TPRG1 antisense RNA 2 3 3 188956475 188958383 - 189238686 189240594 - 11329013 100874027 ABBA01058347;AC104669;AMYH02008395;BG213396;HG496488;NR_046722 Hs.616080 RP11-115I8.1 APPROVED ncrna ENSG00000230115 HGNC:41062 PREDICTED 1321699 TPR translocated promoter region, nuclear basket protein This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008] 1 1 1 q25 159391490 159455165 - 186280784 186344883 - 186311652 186375751 - 1580863;6480464;6907045;8554872 10601273;10708513;11248057;11514627;11839768;11896612;11952838;12228227;12477932;12513910;12594221;12802065;1437155;14702039;15229283;15302935;1532241;1549355;15635413;15654337;16051665;1611909;16964243;17081983;17098863;17643375;17897941;18029348;18663750;18794356;18981471;19273613;19394292;19460752;19471022;19596686;19738201;20237496;20360068;20407419;20479123;20936779;21139048;21282530;21613532;21628590;21693764;21811608;21890473;21906983;22053931;22145905;22253824;22412018;22586326;22619110;22623428;22939629;23000965;23110726;23125841;23170199;23402259;23649804;23752268;24250222;24344181;24457600;24581499;24583282;24639526;24816145;3277171;3387099;3821733;7798308;7851906;9024684;9828100;9864356 7175 P12270;Q5SWX9 AA688415;ABBA01027704;ABBA01027705;AF172081;AF181668;AK023111;AK309473;AL133553;AL596220;AMYH02002311;AMYH02002312;BC016514;BC025177;BC094764;CH471067;M15326;NG_023284;NM_003292;U69668;X63105;X66397;X94207;X94208;XM_005245471;Y00672 AAB48030;AAH16514;AAH25177;AAH94764;AAI56390;CAA44819;CAA47021;CAA63904;CAA68681;EAW91203;EAW91204;EAW91205;EAW91206;NP_003283;P12270;XP_005245528 Hs.279640 1658922;1681877;1725665;1749069;5015619;5022200;5037552;5111565 D11S3114;D8S2279;G19412;G31461;G62041;L18426;RH80846;SHGC-110732 NPC-associated intranuclear protein;OTTHUMP00000033584;megator;nuclear pore complex-associated protein TPR;nucleoprotein TPR;translocated promoter region (to activated MET oncogene);translocated promoter region protein;tumor potentiating region APPROVED protein-coding ENSG00000047410 HGNC:12017 08927 189940 REVIEWED 6481318 TPRG1-AS1 TPRG1 antisense RNA 1 q28 100874043 AC009319;BG778254;NR_046873 Hs.616287 APPROVED ncrna HGNC:42391 VALIDATED 1354338 TPRA1 transmembrane protein, adipocyte asscociated 1 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); INVOLVED IN aging (inferred); G-protein coupled receptor signaling pathway (inferred); lipid metabolic process (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4',5-pentachlorobiphenyl; atrazine 3 3 3 q21.2 125718390 125736050 - 127291907 127309602 - 127573064 127595064 - 737633;1580863;6480464 12477932 10342878;14702039;15489334;16806233;17255364;21832049;21890473;21963094;24250222;8889548;9776767 131601 C9JU06;C9JVW5;C9JZ00;F8WC44;Q86W33 AB037108;ABBA01020880;ABBA01020881;AC023593;AC084035;AF289568;AI248453;AK056759;AMYH02007602;AMYH02007603;AX235260;BC017058;BC050711;BG168441;BI823558;BM665705;CD580484;CH471052;HY066741;HY105099;NM_001136053;NM_001142646;NR_073377;XM_006713495;XM_006713496;XM_006713497 AAH17058;AAH50711;AAL55752;BAA89782;CAC69809;EAW79340;EAW79341;EAW79342;EAW79343;EAW79344;NP_001129525;NP_001136118;Q86W33;XP_006713558;XP_006713559;XP_006713560 Hs.6418 1658967;1686770;1858407 D3S3820;RH98767;SHGC-77322 FLJ32197;GPR175;TMEM227;TPRA40 G protein-coupled receptor 175;OTTHUMP00000216053;OTTHUMP00000216054;OTTHUMP00000216055;OTTHUMP00000216056;OTTHUMP00000216057;OTTHUMP00000216058;OTTHUMP00000216061;OTTHUMP00000216062;integral membrane protein GPR175;seven transmembrane domain orphan receptor;transmembrane domain protein regulated in adipocytes 40 kDa;transmembrane protein 227;transmembrane protein adipocyte-associated 1;transmembrane protein, adipocyte associated 1 protein-coding ENSG00000163870 HGNC:30413 16318 608336 VALIDATED 1605237 TPRG1 tumor protein p63 regulated 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 3,4-dichloroaniline; benzo[a]pyrene; 17alpha-ethynylestradiol (ortholog) 3 3 3 q28 187324428 187475904 + 188817910 189041271 + 189099442 189323482 + 6480464;8554872 12477932;14702039;15489334;19475631;24144296 285386 C9IYC1;C9JDW1;H7C1G4;Q6ZUI0 ABBA01058345;ABBA01058346;ABBA01058347;ABBA01058348;AC079900;AC104669;AC112909;AK123232;AK125682;AMYH02008394;AMYH02008395;AMYH02008396;BC101550;BC101552;CR737485;NM_198485;XM_005247382;XM_005247383;XM_005247385;XM_005247387;XM_005247388;XM_006713604;XM_006713605;XR_427364;XR_427365 AAI01551;AAI01553;BAC85565;BAC86245;NP_940887;Q6ZUI0;XP_005247439;XP_005247440;XP_005247442;XP_005247444;XP_005247445;XP_006713667;XP_006713668 Hs.729544 1339323;1713783;1717331;2118072;5021926 B327YD9;D3S3549;RH120778;RH122156;ha3186 FAM79B;FLJ41238;FLJ43694;MGC126599;MGC126601 OTTHUMP00000209773;OTTHUMP00000209774;family with sequence similarity 79, member B;tumor protein p63-regulated gene 1 protein protein-coding HGNC:24759 13451 VALIDATED 1601827 TPRG1L tumor protein p63 regulated 1-like ENCODES a protein that exhibits identical protein binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; synaptic vesicle (ortholog); INTERACTS WITH (-)-demecolcine; atrazine; coumestrol 1 1 1 p36.32 2796682 2801797 + 3541556 3546695 + 3624992 3630131 + 6480464;8554872 12477932;14702039;15489334;16710414;17869247;19199708 127262 B4DPH8;Q5T0D9 ABBA01073655;AK025409;AK025464;AK096427;AK289919;AK298343;AL513320;AMYH02000137;BC019034;BI547609;BX115868;CH471130;NM_182752 AAH19034;BAF82608;BAG60590;EAW71455;EAW71456;NP_877429;Q5T0D9 Hs.20529 2139918;2139920 A006C08;G20693 FAM79A;FLJ21811;RP11-46F15.3 OTTHUMP00000000660;OTTHUMP00000000661;family with sequence similarity 79, member A;h-mover;mossy fiber terminal-associated vertebrate-specific presynaptic protein;mover;tumor protein p63-regulated gene 1-like protein protein-coding ENSG00000158109 HGNC:27007 14037 611460 VALIDATED 1603050 TPRKB TP53RK binding protein ENCODES a protein that exhibits protein kinase binding; INVOLVED IN tRNA processing (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; cytosol; nucleus; INTERACTS WITH 17beta-estradiol; disodium selenite; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 p24.3-p24.1 73807816 73815378 - 73955744 73964765 - 73729830 73737464 - 6480464;8554872 10810093;12477932;12659830;14702039;16189514;16344560;18029348;20383145;21139048;21906983;21931564;21963094;22863883;22912744;22939629;23455922;23824909 51002 Q9Y3C4 ABBA01075584;AC092653;AF060921;AF151879;AI759966;AK097254;AK291071;AK295239;AMYH02004076;AY157986;AY157987;AY643713;BC029492;CH471053;CS185649;DA688967;NM_016058;XM_005264343;XM_005264345;XM_006712026;XM_006712027 AAD34116;AAG43133;AAH29492;AAN76356;AAN76357;AAT64915;BAF83760;BAG58232;CAJ42830;EAW99720;EAW99721;EAW99722;EAW99723;NP_057142;Q9Y3C4;XP_005264400;XP_005264402;XP_006712089;XP_006712090 Hs.157401 1674595 SGC35854 CGI-121 EKC/KEOPS complex subunit TPRKB;OTTHUMP00000160247;OTTHUMP00000202482;OTTHUMP00000202483;PRPK (p53-related protein kinase)-binding protein;PRPK-binding protein;TP53RK-binding protein protein-coding ENSG00000144034 HGNC:24259 608680 VALIDATED 7204809 TPRKBP1 TP53RK binding protein pseudogene 1 10 10 28919690 28948399 + 28630761 28659470 + 101060176 ABBA01034373;AL161936;AMYH02022537;AMYH02022538 pseudo HGNC:44943 MODEL 1605470 TPRX1P1 tetra-peptide repeat homeobox 1 pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008] 10 10 10 q22.3 74544978 74545902 - 81258844 81259768 - 79499088 79500012 - 503628 ABBA01020209;AL133481;AMYH02023400;NG_004836 TPRXP2 APPROVED pseudo HGNC:32176 INFERRED 1605469 TPRX1P2 tetra-peptide repeat homeobox 1 pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq] q22.3 503629 AC068139;AL133481;NG_004837 TPRXP3 pseudo HGNC:32177 1352518 TPRN taperin This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010] 9 9 9 q34.3 110600193 110608787 - 140086069 140095163 - 137191617 137200711 - 737633;6480464;7240710;8554872;8699517 12477932 15231748;19603065;20170898;20170899;20301607;21382349;21988832;22321011;23080069;23251661;23340767 286262 H3BLU1;Q4KMQ1 ABBA01022747;ABBA01022748;AK074735;AL929554;AMYH02021925;AMYH02021926;BC023530;BC048807;BC065498;BC071831;BC098411;BC111500;BC128601;BC143385;CH471090;CQ782662;NG_027801;NM_001128228 AAH23530;AAH48807;AAH71831;AAH98411;AAI11501;AAI28602;AAI43386;BAC11169;CAF85906;EAW88364;NP_001121700;Q4KMQ1 Hs.323445 1672089;1852829;5093714 A009V25;G32880;WI-4096 C9orf75;DFNB79;FLJ90254;MGC131933;RP11-350O14.7 OTTHUMP00000022693;OTTHUMP00000022694 APPROVED protein-coding ENSG00000176058 HGNC:26894 12977 613307;613354 VALIDATED 1605471 TPRX2P tetra-peptide repeat homeobox 2 pseudogene Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 45169169 45170987 + 48363439 48365257 + 47860182 47862000 + 503627 ABBA01041062;AC008745;AC024582;AMYH02036273;NG_004835 TPRX2P1;TPRXP1 APPROVED pseudo HGNC:32175 INFERRED 1605803 TPRXL tetra-peptide repeat homeobox-like Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008] 3 3 3 p25.1 13917112 14045791 + 13978807 14107484 + 13937307 14065984 + 6480464;8554872 12477932;14702039;16344560;21832049;22116950 348825 E9PK92;E9PLB7;E9PLC2;E9PNC5;E9PPI8;E9PPR8;E9PSA2;I3L0F9;Q17RH7 ABBA01025161;ABBA01025162;ABBA01025163;AC069462;AC090004;AC090884;AK092426;AMYH02006316;AMYH02006317;AMYH02006318;BC016304;BC027729;BC117319;DA837466;KF454928;KF457601;KF457602;NR_002223 BAC03887;Q17RH7 Hs.529180;Hs.638296 1673395;1774206;1898936;2072072;5127743;5493259 G09711;REN107230;REN20264;RH44949;UniSTS:485470;WI-17618 FLJ35107 APPROVED pseudo ENSG00000180438 HGNC:32178 611167 VALIDATED 1604487 TPRX1 tetra-peptide repeat homeobox 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 45110194 45112555 - 48304500 48322308 - 47801243 47819051 - 8554872 12477932;14702039;17005330 284355 B7ZMM8;D2CFI5;Q8N7U7 ABBA01041057;AC008745;AK097640;AMYH02036271;BC137501;BC141863;BC144673;CH471126;DQ340180;NM_198479;XM_005258788;XM_005258789 AAI37502;AAI41864;AAI44674;ABC69291;BAC05130;EAW57514;NP_940881;Q8N7U7;XP_005258845;XP_005258846 Hs.629812 FLJ40321;TPRX CRX like homeobox 2;OTTHUMP00000244150;tetra-peptide repeat homeobox protein 1 APPROVED protein-coding ENSG00000178928 HGNC:32174 13447 611166 VALIDATED 1353104 TPSP1 tryptase pseudogene 1 16 16 16 p13.3 1537998 1540687 - 1323725 1326396 - 1273724 1276395 - 10843716;12217407 100129339 ABBA01030318;AC120498;AMYH02031224;NG_008445 MP-2 pseudo HGNC:14182 INFERRED 1314139 TPSD1 tryptase delta 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. Although this gene may be an exception, most of the tryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1520603 1522824 + 1306273 1308494 + 1256272 1258493 + 1580863;6480464;8554872 11157797;11174199;12100045;12217407;12391231;12477932;16751005;17947681;18325577;18854315;19748655;9920877 23430 Q9BZJ3 ABBA01030319;AC120498;AE006466;AF098327;AF099147;AF206664;AF318074;AF421357;AMYH02031223;AY055427;BC069143;CH471112;NM_012217 AAD17845;AAD17861;AAG35694;AAH69143;AAK12909;AAK61272;AAL17874;AAL86695;EAW85680;EAW85681;NP_036349;Q9BZJ3 Hs.677789 MCP7-LIKE;MCP7L1;MGC95428;MMCP-7L OTTHUMP00000158630;OTTHUMP00000158675;delta-tryptase;hmMCP-3-like tryptase III;hmMCP-7-like;mMCP-7-like delta II tryptase;mMCP-7-like-1;mMCP-7-like-2;mast cell mMCP-7-like;mast cell protease 7-like;mast cell tryptase;tryptase delta;tryptase-3 APPROVED protein-coding ENSG00000095917 HGNC:14118 08345 609272 REVIEWED 1605426 TPSAB1 tryptase alpha/beta 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1494229 1494587 - 1290678 1292555 + 1240677 1242554 + 6480464 10391906;10500112;10514402;10708850;10708866;10843716;10898108;11157797;11325588;11533057;11568008;11792624;11876641;11906611;12100045;12217407;12391231;12397176;12477932;12742661;12874242;15567416;15638376;16027150;16414069;16517749;17146627;17205215;17449330;17474147;17635650;17655281;18079491;18359288;18790994;18854315;19100407;19250736;19535787;19625657;19697770;19748655;20087660;20540319;20718781;21493897;21707711;21791437;2187193;2203827;22102069;22194960;22363824;22613992;23018683;23330964;23559352;23991686;24054365;24155887;24237068;24507159;24565497;2677049;3161948;7009736;7730649;8434231;8598474;8675637;9077541;9300715;9485375;9521329;9920877 7177 J3QTS8;P20231;Q15661 AC120498;AE006466;AF098328;AF099144;AF206665;AF206666;AF206667;AMYH02031223;BC028059;BC038416;BC051852;BC074974;BC074975;CR541836;FJ931118;M30038;M33491;M33494;NM_003294 AAA36778;AAA86934;AAC83172;AAD17846;AAD17860;AAG35695;AAG35696;AAG35697;AAH28059;AAH51852;AAH74974;AAH74975;AAK61271;ACZ98912;CAG46635;NP_003285;Q15661 Hs.405479 1684820;1777575;2170530;2172591;5492743;5494013 RH69115;RH78261;RH78935;RH80805;UniSTS:480727;UniSTS:482183 MGC104064;TPS1;TPS2;TPSB1 OTTHUMP00000115530;OTTHUMP00000213242;mast cell alpha II tryptase;mast cell beta I tryptase;tryptase I;tryptase alpha II;tryptase alpha-1;tryptase alpha/beta-1;tryptase beta 1;tryptase beta I;tryptase beta-1;tryptase-1;tryptase-I;tryptase-III APPROVED protein-coding ENSG00000172236 HGNC:12019 01848;01849 191080 REVIEWED 1344751 TPSG1 tryptase gamma 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1487545 1491148 - 1271651 1275254 - 1221488 1225254 - 1302295;1580863;6480464;8554872 10521469 10843716;11157797;12194977;12217407;20126998 25823 Q9NRR2 ABBA01030324;AC120498;AE006466;AF175759;AF191031;AF195508;AF223563;AMYH02031223;BE552396;CH471112;NM_012467;XM_006720875;XM_006720876 AAF03697;AAF76457;AAF76458;AAG48852;AAI72313;AAK61269;EAW85682;NP_036599;Q9NRR2;XP_006720938;XP_006720939 Hs.592076 PRSS31;TMT;trpA OTTHUMP00000115529;gamma I;gamma II;lung tryptase;mast cell protease II;mast cell tryptase;pituitary tryptase;serine protease 31;skin tryptase;transmembrane tryptase;tryptase gamma;tryptase gamma I;tryptase gamma II APPROVED protein-coding ENSG00000116176 HGNC:14134 07160 609341 REVIEWED 1348891 TPSB2 tryptase beta 2 (gene/pseudogene) Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, beta II and beta III. Beta tryptases appear to be the main isoenzymes expressed in mast cells, whereas in basophils, alpha-tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1494229 1494587 - 1278336 1280185 - 1228336 1230184 - 1580863;6480464 10391906;10500112;10708850;10843716;10898108;11157797;12217407;12477932;15489334;15567416;17449330;17474147;19748655;2187193;2203827;24142694;8434231;9521329;9920877 64499 P20231 ABBA01030322;ABBA01030323;ABBA01030324;AC120498;AE006466;AF099143;AF099145;AF099146;AK308208;AMYH02031223;BC029356;BC065923;FJ931119;FJ931120;M33492;M33493;M37488;NG_032951;NM_024164;S55551 AAA36779;AAA36780;AAA51843;AAD13876;AAD17857;AAD17858;AAD17859;AAH29356;AAH65923;AAK61270;ACZ98913;NP_077078;P20231 Hs.405479;Hs.592982 1684820;1777575;2170530;2172591 RH69115;RH78261;RH78935;RH80805 TPS2 OTTHUMP00000208944;mast cell tryptase beta II;mast cell tryptase beta III;tryptase II;tryptase III;tryptase beta II;tryptase beta III;tryptase beta-2;tryptase-2;tryptaseB;tryptaseC APPROVED protein-coding ENSG00000197253 HGNC:14120 10277 191081 REVIEWED 1345938 TPSP2 tryptase pseudogene 2 16 16 16 p13.3 1550889 1553620 - 1336344 1339074 - 1286343 1289073 - 10843716;12217407 64494;650474 AB038652;ABBA01030318;AC120498;AMYH02031224;NG_008446 pseudo ENSG00000260284 HGNC:14136 INFERRED 1353746 TPSP3 tryptase pseudogene 3 64495 HGNC:14127 6904327 TPST2P1 tyrosylprotein sulfotransferase 2 pseudogene 1 15 15 15 13678956 13680055 - 36918878 36919977 - 36626677 36627776 - 100420710 ABBA01038496;AC013640;AMYH02030197;NG_025297;NG_034055 pseudo HGNC:44425 INFERRED 735970 TPS1 mast cell protease 6 7176 BC028059;BC051852;M30038;NM_003293 Hs.405479 1318261 TPST1 tyrosylprotein sulfotransferase 1 ENCODES a protein that exhibits protein-tyrosine sulfotransferase activity (inferred); INVOLVED IN inflammatory response (inferred); peptidyl-tyrosine sulfation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi apparatus (inferred); integral component of membrane (inferred); membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; atrazine 7 7 7 q11.21 66288228 66443350 - 65670259 65825438 + 66205272 66360451 + 1580863;6480464;8554872 10089882;10497246;12032733;12056800;12169668;12477932;12690205;12853948;15060624;15489334;16244708;16344560;16859706;17558413;18672380;19343046;20379614;23472069;7721887;9501187;9733778 8460 C9J3I4;C9K0F3;O60507 ABBA01048989;ABBA01048990;ABBA01048991;ABBA01048992;AC008267;AC026281;AC079855;AF038009;AI221558;AK307053;AK313098;AMYH02015898;AMYH02015899;AMYH02015900;AMYH02015901;AMYH02015902;AMYH02015903;AMYH02015904;BC013188;CH236961;CH471140;CR542060;CR542080;DB212291;NM_003596;XM_005250642 AAC13552;AAH13188;AAS02012;AAS07522;ABM84489;ABM85174;BAG35922;CAG46857;CAG46877;EAL23739;EAX07937;EAX07938;NP_003587;O60507;XP_005250699 Hs.421194 1664101;1682453;1689384;1754571;1782416;1849140;1857608;2108591;2116430;2139745;2152822;2186848 GDB:1317494;GDB:3754955;RH45913;RH68719;RH80530;RH80949;SHGC-132858;SHGC-154849;SHGC-36434;SHGC-53551;STS-AA034515;TPST1_8810 TANGO13A;TPST-1 OTTHUMP00000159912;protein-tyrosine sulfotransferase 1;transport and golgi organization 13 homolog A;tyrosylprotein sulfotransferase-1 protein-coding ENSG00000169902 HGNC:12020 07216 603125 VALIDATED 735250 TPT1 tumor protein, translationally-controlled 1 ENCODES a protein that exhibits calcium ion binding; poly(A) RNA binding; INVOLVED IN negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage; response to virus; FOUND IN cytoplasm; extracellular space; extracellular vesicular exosome; INTERACTS WITH (Z)-3-butylidenephthalide; 17beta-estradiol; 5-aza-2'-deoxycytidine 13 13 13 q14 26967432 26971425 - 45911005 45915505 - 45333471 45341284 - 1580863;6480464 10343127;11368327;11598139;11790298;11991642;12149273;12167714;12399545;12477932;12487227;1286667;1286669;12876410;12948934;14499622;14500674;14623968;15057823;15062873;15162379;15262975;15319436;15342556;15383549;15489334;15840729;15870695;15958728;16130169;16193335;16548883;16730713;16859841;17353931;17549383;17645945;17897616;18042794;18274553;18325344;18345488;18504434;18624398;18676370;18816836;18976975;19271148;19360337;19471022;19484128;19523440;19570981;19605695;19621893;19815065;20098747;20237496;20966960;21081126;21139048;21319273;21795694;21801721;21832049;21890473;21900206;21906983;21953552;21963094;21987572;22157679;22340241;22451927;22505724;22779921;22853445;22902387;22912717;22939629;22990118;23000965;23042265;23387829;23749504;23824909;23894469;24106833;24165482;24311645;24465583;24583282;24657995;24816145;25103245;2813067;7542803;7821789;9059837;9150946 7178 E9PJF7;H0YCX0;J3KPG2;P13693;Q5W0H4 ABBA01021208;AF072098;AJ400717;AK130847;AK296587;AK296952;AK312951;AL138963;AMYH02027969;AX405763;AY117678;AY334563;BC003352;BC007842;BC012431;BC022436;BC040008;BC052333;BP215975;CH471075;CR457036;D28408;L13806;NM_001286272;NM_001286273;NM_003295;X16064;X64899 AAD48084;AAH03352;AAH12431;AAH22436;AAH40008;AAH52333;AAM51565;AAQ01550;ADZ16044;BAA05774;BAG35792;BAG59206;BAG59498;CAA34200;CAB87812;CAD34870;CAG33317;EAX08731;EAX08732;EAX08733;EAX08734;EAX08735;NP_001273201;NP_001273202;NP_003286;P13693 Hs.374596;Hs.717316 1647492;1681664;1736630;1744721;1851246;5038551 D17S1473E;G26329;GDB:554914;HUM000S635;RH41035;RH68285 FLJ27337;HRF;TCTP;p02;p23 OTTHUMP00000018344;OTTHUMP00000018345;OTTHUMP00000018346;OTTHUMP00000018347;OTTHUMP00000232047;OTTHUMP00000232048;fortilin;histamine-releasing factor;translationally-controlled tumor protein protein-coding ENSG00000133112 HGNC:12022 15979 600763 VALIDATED 7375266 TPT1P10 tumor protein, translationally-controlled 1 pseudogene 10 10 10 59972294 59972797 - 58212334 58213036 - 101928715 ABBA01019436;AC016396;AMYH02023156 pseudo HGNC:49301 MODEL 7367148 TPT1P12 tumor protein, translationally-controlled 1 pseudogene 12 12 12 12 10845397 10846243 - 9308261 9309123 - 9155665 9156527 - 100421480 ABBA01012257;AC010175;AMYH02025998;NG_023974 pseudo HGNC:49303 INFERRED 1313297 TPST2 tyrosylprotein sulfotransferase 2 The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12.1 10725568 10789890 - 26921714 26986089 - 26525748 26590125 - 1580863;6480464 10089882;10497246;10591208;11230166;11256614;12056800;12169668;12477932;15461802;15489334;16303743;17558413;18672380;19343046;19402700;20460947;23481380;9733778;9736702 8459 B1AHJ5;B1AHJ6;B1AHJ7;B1AHJ8;B1AHJ9;B1AHK0;O60704 AA531491;ABBA01055201;AF049891;AF061254;AJ006198;AK074538;AK075139;AK304545;AL136623;AL708491;AMYH02038167;BC001057;BC017509;CH471095;CQ782485;CQ783200;CR456597;CR533528;HI573878;HI573880;KF511430;KF511431;NM_001008566;NM_003595;XM_006724338;Z95115 AAC34296;AAC36061;AAH01057;AAH17509;ABM84526;BAG51969;BAG52071;BAH14212;CAA06906;CAB66558;CAF85772;CAF86406;CAG30483;CAG38559;CAK54628;CAK54927;CBX47428;CBX47429;EAW59726;EAW59727;EAW59728;NP_001008566;NP_003586;O60704;XP_006724401 Hs.632768 1650509;1711472;1711486;1777832;2118641 G49193;G49244;SHGC-37519;WI-14070;WI-19497 TANGO13B;TPST-2 OTTHUMP00000198866;OTTHUMP00000198867;OTTHUMP00000198868;protein-tyrosine sulfotransferase 2;transport and golgi organization 13 homolog B;tyrosylprotein phosphotransferase 2;tyrosylprotein sulfotransferase-2 APPROVED protein-coding ENSG00000128294 HGNC:12021 07217 603126 REVIEWED 7368625 TPT1P13 tumor protein, translationally-controlled 1 pseudogene 13 X X X q25 121378582 121379393 - 120997322 120998135 - 121863469 121864282 - 643421 ABBA01036174;AL359851;AMYH02040383;CH471107;NG_023285 EAX11871 pseudo HGNC:49304 INFERRED 7366196 TPT1P2 tumor protein, translationally-controlled 1 pseudogene 2 2 2 2 q34 202847356 202855251 - 209079420 209087349 - 208214696 208222625 - 100128483 ABBA01062706;AC016697;AMYH02005660 pseudo HGNC:49294 MODEL 1348535 TPT1P1 tumor protein, translationally-controlled 1 pseudogene 1 21 21 21 q22.11 18394928 18395735 + 33212560 33213367 + 31840248 31841055 + 100131268 ABBA01057298;AMYH02037720;AP000466;NG_021999 TPT1P APPROVED pseudo HGNC:16742 INFERRED 7381294 TPT1P3 tumor protein, translationally-controlled 1 pseudogene 3 3 3 3 139851252 139851969 - 141427852 141428569 - 141709010 141709727 - 100421439 ABBA01059039;AC092978;AMYH02007805;NG_025633 pseudo HGNC:49295 INFERRED 7385924 TPT1P4 tumor protein, translationally-controlled 1 pseudogene 4 6 6 6 q24.2 145261757 145262564 - 144521377 144522194 - 144200240 144201057 - 285741 ABBA01025740;AL135917;AMYH02014642;NG_022331 pseudo HGNC:49298 INFERRED 5687516 TPT1-AS1 TPT1 antisense RNA 1 INTERACTS WITH copper atom; copper(0); valproic acid 13 13 13 q14.13 26971608 27020330 + 45915480 45965618 + 45341345 45391483 + 6480464 100190939 Q8WYW1 ABBA01021207;ABBA01021208;AF318337;AK124332;AK127569;AL138963;AL627107;AMYH02027969;AMYH02027970;BC004792;CH471075;HG505586;HG505591;HG505593;HG505594;HG505596;HG505600;HG505601;HG505602;HG505603;KF455769;NR_024458 AAH04792;AAL55844;BAC85835;EAX08736 Hs.375766 1338559;1688486;1693478;1788204;2130698;2132169;5015619;5016700;5022578;5037552;5117897;5125805 D11S3114;D13S1312;D1S1423;D8S2279;G67443;GDB:631813;RH64956;RH69418;RH79802;SGC33196;SHGC-58006;STS-W02829 FLJ42341;FLJ45662 APPROVED ncrna HGNC:43686 VALIDATED 7365571 TPT1P6 tumor protein, translationally-controlled 1 pseudogene 6 6 6 6 q14.3 86564182 86564860 - 86136969 86137772 - 85427251 85428054 - 643870 ABBA01040476;AL135903;AMYH02014038;NG_030180 pseudo HGNC:49297 INFERRED 1602215 TPT1P8 tumor protein, translationally-controlled 1 pseudogene 8 INVOLVED IN apoptotic process (inferred); INTERACTS WITH disodium selenite; valproic acid 8 8 8 p11.2 35696180 35697311 + 36745909 36747040 + 36888391 36889522 + 6480464 59347 Q9HAU6 ABBA01023575;ABBA01023576;AC138136;AF300871;AMYH02017807;NG_012761 AAG17927;Q9HAU6 FKSG2 APPROVED pseudo HGNC:24088 16902 INFERRED 7378831 TPT1P9 tumor protein, translationally-controlled 1 pseudogene 9 9 9 9 q33.1 91492617 91493399 - 120844971 120845753 - 118082693 118083475 - 389787 ABBA01016271;AL445663;AMYH02021547;NG_021634 pseudo HGNC:49299 INFERRED 1347469 TPTE transmembrane phosphatase with tensin homology This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 21 21 21 p11 2418 5570 + 10906741 10990920 - 10521537 10605716 + 1580863;6480464;8554872 10598804;10830953;11030409;11279206;11810268;12477932;14659893;15489334;18074101;18854154;21139048;21988832;23936387;24639526;9693027 7179 P56180 ABBA01002441;ABBA01007711;AC244111;AC244144;AF007118;AF254982;AF254983;AF495908;AI149736;AI200912;AK308254;AK314285;AL078471;AL163201;AL833345;AY219886;AY219887;AY219888;BC028719;DB459772;HC044491;KF456984;KF456988;NG_034032;NM_001290224;NM_199259;NM_199260;NM_199261 AAC34574;AAH28719;AAP45143;AAP45144;AAP45145;AAQ06674;ABM82137;ABM85320;BAG36944;CAB90528;CBH30575;NP_001277153;NP_954868;NP_954869;NP_954870;P56180 Hs.122986 1737395;1794184;5094652 D13S975;PMC310823P1;PMC310823P6 CT44;PTEN2 OTTHUMP00000082789;OTTHUMP00000082790;OTTHUMP00000082791;PTEN-related tyrosine phosphatase;cancer/testis antigen 44;putative tyrosine-protein phosphatase TPTE;tensin, putative protein-tyrosine phosphatase;tumor antigen BJ-HCC-5 protein-coding ENSG00000274391 HGNC:12023 05064 604336 REVIEWED 7385671 TPT1P14 tumor protein, translationally-controlled 1 pseudogene 14 X X X p22.2 19110924 19111712 - 14995874 14996662 - 14977752 14978540 - 100128521 ABBA01071253;AC121340;AMYH02038910;NG_022583 pseudo HGNC:49305 INFERRED 3029031 TPTE2P1 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1 13 13 13 q12.13 6566446 6606170 - 25502893 25542607 - 24928755 24968469 - 14702039;23251661 646405 Q5T6R2 ABBA01007897;AK094224;AL354798;AMYH02027714;NR_026730 BAG52846 Hs.620592 1666644;1690392;1699366;1737477;5022425 D13S1026;D22S296;RH103270;RH92508;SGC30453 pseudo HGNC:35196 PROVISIONAL 7365837 TPT1P5 tumor protein, translationally-controlled 1 pseudogene 5 5 5 5 31789092 31789907 + 31908467 31909289 + 31908361 31909183 + 100421420 ABBA01066724;AC025458;AMYH02011117;NG_024662;NG_033962 pseudo HGNC:49296 INFERRED 2881921 TPTE2P4 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 4 Y Y Y q11.23 9586362 9657820 + 28654360 28726015 + 26508213 26579868 + 12815422 286573 ABBA01015481;ABBA01015482;ABBA01015483;ABBA01015484;ABBA01015485;ABBA01015486;ABBA01015487;ABBA01015488;ABBA01015489;ABBA01015490;ABBA01015491;AC013734;AC019099;NG_002820 1737395 D13S975 TPTEP pseudo HGNC:38077 INFERRED 6484625 TPTE2P5 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 5 13 13 q14.11 41371121 41495886 - 40796985 40921750 - 6480464 12477932;14702039;16344560 100616668 ABBA01021287;ABBA01021288;AK093232;AK096993;AL157877;AL161614;AL590064;AMYH02027907;AMYH02027908;AMYH02027909;AMYH02027910;AMYH02027911;AMYH02027912;AMYH02027913;AW137230;BC047078;DA313168;NR_038258;NR_038259 Hs.660718 1690392;5015404;5019046;5024413;5125520 G43535;L17705;L17877;RH92508;SGC38269 pseudo HGNC:42356 VALIDATED 2860648 TPTE2P3 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 13 13 13 q14.3 33908055 33934002 - 53063128 53161225 + 52488993 52587090 + 6480464 11810268;12477932;14702039;16751776 220115 ABBA01002545;ABBA01002546;ABBA01006536;ABBA01006537;ABBA01037066;AL137058;AMYH02028046;AMYH02028047;BC041889;DQ577179;HG505676;HG505677;NR_002793 Hs.528448 1758685;2151677;2163067 D13S773;D13S774;SHGC-149161 DKFZp434F1622;RP11-78J21.4;TPTEps1 pseudo HGNC:27345 PROVISIONAL 3436509 TPTE2P2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 2 INTERACTS WITH valproic acid 13 13 13 q14.3 34143438 34147105 + 52793490 52865692 - 52221711 52297828 - 6480464 12477932;16344560 644623 ABBA01051059;AL158066;AL683825;AMYH02028041;AMYH02028042;AMYH02028043;BC041842;BX088550;BX492305;DB088111;XR_424450;XR_424451;XR_429267;XR_432937 Hs.678973 1758685;2111720;2151677;2163067 D13S1626;D13S773;D13S774;SHGC-149161 DKFZp434F1622 pseudo ENSG00000272281 HGNC:38076 MODEL 2300631 TRA-AGC1-1 transfer RNA-Ala (AGC) 1-1 6;MT 6 28763741 28763812 - 28795964 28796035 - 18984615 100189346 ABBA01038026;AL662890;AL844539;AL901607;AMYH02013402;BX470194;BX908720;CR753651;CR759954;HG983548 TRNAA34 APPROVED trna HGNC:34914 MODEL 1323589 TPX2 TPX2, microtubule-associated ENCODES a protein that exhibits protein kinase binding; INVOLVED IN activation of protein kinase activity; regulation of mitotic spindle organization (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN microtubule cytoskeleton; nucleus; spindle pole; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2,3-dimethoxynaphthalene-1,4-dione 20 20 20 q11.2 27083256 27145950 + 30326904 30389605 + 31739101 31801802 + 1580863;6480464;8554872 10393424;10512675;10871281;11256614;11780052;12097419;12177045;12389033;12477396;12477932;12612055;14580337;14600264;14702039;14718566;15302935;15489334;15705883;16287863;16341674;16489064;16565220;16964243;17081983;17474147;17705509;17716627;17939994;18029348;18662907;18663142;18773538;19148505;19208764;19357306;19424574;19471022;19773279;19801554;20360068;20508983;20599806;20708655;21099343;21139048;21147853;21187329;21347367;21890473;21988832;22094256;22110403;22207630;22307108;22412018;22560880;22761906;22939629;23000965;23045526;23328114;23333597;23357462;23444224;23725757;23752268;23873098;24250222;24332808;24341487;24556998;24816145;9207457 22974 Q643R0;Q96RR5;Q9ULW0 AB024704;AB027467;ABBA01019290;ABBA01019291;ABBA01019292;ABBA01019293;ABBA01019294;ABBA01019295;AF098158;AF146731;AF244547;AF287265;AK001391;AK093379;AK312549;AL117534;AL160175;AMYH02036907;AY734680;BC004136;BC011357;BC020207;BM835456;BU181208;CB960160;CH471077;NM_012112;XM_005260340 AAD33965;AAF03248;AAF81695;AAH04136;AAH11357;AAH20207;AAK83033;AAU29203;ADZ15568;BAA76931;BAA85893;BAG35446;BAG50902;CAB55982;EAW76418;EAW76419;EAW76420;EAW76421;EAW76422;NP_036244;Q9ULW0;XP_005260397 Hs.244580 1689686;1847903;2108967 RH16281;RH79783;TPX2_9293 C20orf1;C20orf2;DIL-2;DIL2;FLS353;GD:C20orf1;HCA519;HCTP4;REPP86;p100 OTTHUMP00000030547;OTTHUMP00000030548;TPX2, microtubule-associated protein homolog;TPX2, microtubule-associated, homolog;differentially expressed in cancerous and non-cancerous lung cells 2;differentially expressed in lung cells;hepatocellular carcinoma-associated antigen 519;preferentially expressed in colorectal cancer;restricted expression proliferation associated protein 100;restricted expression proliferation-associated protein 100;targeting protein for Xklp2;tpx2, microtubule-associated protein homolog (xenopus laevis) APPROVED protein-coding ENSG00000088325 HGNC:1249 05802 605917 VALIDATED 1314090 TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002] 13 13 13 q12.11 1058879 1172750 - 19997017 20135714 - 19422877 19561574 - 6480464;8554872 11329013;11716755;12477932;12717346;14659893;15057823;20379614;22164291;22311048;22896666;22990118;23503679;24639526 93492 G3V171;Q6XPS3 ABBA01068555;ABBA01068556;AJ421032;AJ421033;AK301741;AL079582;AL359457;AL590076;AMYH02027613;AMYH02027614;AMYH02027615;AMYH02027616;AY219890;BC128146;BC128147;BG200515;BG207812;CH471075;FJ969729;KF455746;NM_001141968;NM_001271850;NM_130785;NM_199254;NR_073485;NR_073486;NR_073487 AAI28147;AAI28148;AAP45146;ACT21090;BAG63204;CAD13144;CAD13145;EAX08219;EAX08220;EAX08221;EAX08222;EAX08223;EAX08224;EAX08225;NP_001135440;NP_001258779;NP_570141;NP_954863;Q6XPS3 Hs.377488 5094652 PMC310823P1 MGC149231;TPIP OTTHUMP00000018072;OTTHUMP00000018073;OTTHUMP00000176861;PTEN-like inositol lipid phosphatase;TPIP lipid phosphatase;TPTE and PTEN homologous inositol lipid phosphatase;lipid phosphatase TPIP;phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase TPTE2 APPROVED protein-coding ENSG00000132958 HGNC:17299 06003 606791 VALIDATED 6482487 TPTEP1 transmembrane phosphatase with tensin homology pseudogene 1 INTERACTS WITH (-)-epigallocatechin 3-gallate; cadmium atom; potassium chromate 22 22 22 q11.1 704946 751871 + 17082801 17129720 + 16601911 16648830 + 6480464 12477932;14659893;14702039;20112338;2551777 387590 Q8N9C8 ABBA01001464;ABBA01001465;AK001299;AK094889;AK095032;AK097082;AK226145;AMYH02037979;AMYH02037980;AP000365;AP000547;AY219889;BC012110;BC017420;BC031001;BC107743;EU541208;HG511958;HG511959;HG511963;M27826;NR_001591 BAC04480 Hs.474116 1742263;1747553;5022578;5037552;5092344;5094652;5117164 D1S1423;D8S2279;G49372;G65441;GDB:194282;GDB:451544;PMC310823P1 AC005301.5;FLJ37713;MGC104374;psiTPTE22 pseudo ENSG00000100181 HGNC:43648 PROVISIONAL 1353259 TRA T cell receptor alpha locus ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (inferred); INTERACTS WITH 17alpha-ethynylestradiol; benzene; copper(2+) sulfate 14 14 14 q11.2 1953402 2884092 + 22090057 23021075 + 21621904 22552132 + 6480464;7240710;8554872 10866662;11048639;11142503;11827988;11877480;11920559;12039522;12429093;12444131;12473666;12477932;12796775;12925207;1303175;15123239;15128794;15489916;15494509;16310048;16424183;16548914;16968899;17015149;17023417;17082594;17391765;17652306;17785774;17823309;18314878;18378792;18523287;18611445;18927318;19056690;19412176;19465887;19470682;19675167;19756574;19782026;19927159;20035823;20042572;20145049;20208138;20496992;20519503;20553737;20677014;20681514;20711174;20713881;20940326;21264308;21282516;21479189;21481940;21636303;21666056;21673345;21690323;21966541;22053593;22177342;22344067;22357628;22513115;22658922;22859301;22872636;22953050;23000520;23246001;23251661;23336327;23364317;23432519;23648065;23686519;23758320;23878218;23956982;23977094;24002674;24020373;24068323;24204295;24324551;24416448;25049333;3873654;3875152;3875483;6440030;8188290;8710870;9110172;9586631 6955 ABBA01061263;ABBA01061264;ABBA01061265;ABBA01061266;ABBA01061267;ABBA01061268;ABBA01061269;ABBA01061270;ABBA01061271;ABBA01061272;ABBA01061273;ABBA01061274;ABBA01061275;ABBA01061276;ABBA01061277;ABBA01061278;ABBA01061279;AC243965;AC243972;AC243980;AC244502;AC245470;AC245505;AE000521;M94081;NG_001332 AAB68997;AAB68998;AAB69000;AAB69001 1299943;1338342;1338735;1342230;1644978;1647900;1650608;1675165;1675167;1677688;1682437;1684224;1694764;1741999;1742655;1742669;1742851;1745801;1745803;1758889;1761273;1761551;1775697;1778369;1783032;1783122;1783124;1783126;1787696;1851546;1851860;2129038;2129598;2131541;2139010;2146178;2157668;2163397;2175320;2187763;7185537 D14S1003;D14S1186;D14S1325;D14S283;D14S50;D14S582;D14S585;D14S742;D14S920;G17820;G35434;G36229;G36317;G42940;G43587;G69448;GDB:188625;GDB:198186;GDB:198197;GDB:210884;GDB:642127;GDB:642137;RH11070;RH18088;RH25299;RH65571;RH70855;RH70886;RH93874;RH98957;SHGC-143450;SHGC-145279;SHGC-145547;SHGC-150895;SHGC-171777;SHGC-171779;SHGC-171840;SHGC-171842;STS-X61072;humtcajc FLJ22602;IMD7;MGC117436;MGC22624;MGC23964;MGC71411;TCRA;TCRD;TRA@;TRAC T-cell antigen receptor, alpha polypeptide;T-cell receptor, alpha (V,D,J,C) 2315792 GLUCO171_H APPROVED protein-coding HGNC:12027 186880;615387 VALIDATED 5488463 TPTE2P6 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 INTERACTS WITH methyl methanesulfonate; silicon dioxide; valproic acid 13 13 13 q12.12 6217621 6235372 + 25154346 25171814 + 24580208 24597676 + 6480464 12477932 374491 ABBA01007893;AL122103;AL137411;AL359538;AMYH02027708;BC045761;DN831683;NR_002815 Hs.406779 pseudo HGNC:42644 VALIDATED 1605135 TRA-AGC11-1 transfer RNA-Ala (AGC) 11-1 6;MT 6 p22.1 26572092 26572164 - 26571864 26571936 - 18984615;3613974 100009603 ABBA01066558;AL121936;AMYH02013354;HG983561;M17880 2161617 D6S2354 TRNAA2 APPROVED trna HGNC:33253 MODEL 2300650 TRA-AGC12-2 transfer RNA-Ala (AGC) 12-2 MT 1 1 18984615 100189327 AL591044;HG983563 TRNAA31 APPROVED trna HGNC:34894 2300608 TRA-AGC12-1 transfer RNA-Ala (AGC) 12-1 6;MT 6 26682715 26682787 + 26819109 26819181 - 18984615 100189369 ABBA01133980;AL513548;AL591044;AMYH02013354;HG983562 2153226;2189671 D6S2242;D6S379 TRNAA37 APPROVED trna HGNC:34937 MODEL 2300917 TRA-AGC13-2 transfer RNA-Ala (AGC) 13-2 6;MT 6 58164628 58164700 - 57838350 57838422 - 18984615 100189060 AL021368;AMYH02013786;HG983566 TRNAA9 APPROVED trna HGNC:34619 MODEL 2300619 TRA-AGC14-1 transfer RNA-Ala (AGC) 14-1 6;MT 6 26673590 26673662 + 26673362 26673434 + 18984615 100189358 ABBA01066561;AL513548;AMYH02013354;HG983567 TRNAA36 APPROVED trna HGNC:34926 MODEL 2300849 TRA-AGC10-1 transfer RNA-Ala (AGC) 10-1 6;MT 6 26687485 26687557 + 26687257 26687329 + 18984615 100189128 AL513548;AMYH02013354;HG983560 TRNAA18 APPROVED trna HGNC:34690 MODEL 2300860 TRA-AGC15-1 transfer RNA-Ala (AGC) 15-1 14;MT 14 89445442 89445514 + 88979098 88979170 + 18984615 100189117 ABBA01030522;AL133238;AMYH02029704;HG983568 TRNAA17 APPROVED trna HGNC:34679 MODEL 2300871 TRA-AGC12-3 transfer RNA-Ala (AGC) 12-3 6;MT 6 58182679 58182751 - 57856401 57856473 - 18984615 100189106 AL021368;AMYH02013786;HG983564 1676033 RH91368 TRNAA14 APPROVED trna HGNC:34667 MODEL 2300624 TRA-AGC17-1 transfer RNA-Ala (AGC) 17-1 MT 1 1 18984615 100189353 AL021368;HG983570 2189671 D6S2242 TRNAA35 APPROVED trna HGNC:34921 2300636 TRA-AGC18-1 transfer RNA-Ala (AGC) 18-1 MT 1 1 18984615 100189341 AL591044;HG983571 TRNAA33 APPROVED trna HGNC:34909 2300765 TRA-AGC18-2 transfer RNA-Ala (AGC) 18-2 MT 1 1 18984615 100189212 AL591044;HG983572 TRNAA22 APPROVED trna HGNC:34775 2300884 TRA-AGC2-1 transfer RNA-Ala (AGC) 2-1 6;MT 6 28806221 28806292 - 28838444 28838515 - 18984615 100189093 ABBA01038028;AL662890;AL669978;AL844539;AMYH02013403;BX119924;BX908720;CR753651;CR759954;CR936879;HG983549 TRNAA13 APPROVED trna HGNC:34654 MODEL 2300665 TRA-AGC16-1 transfer RNA-Ala (AGC) 16-1 6;MT 6 58196623 58196695 - 57870345 57870417 - 18984615 100189312 AL021368;AMYH02013786;HG983569 TRNAA30 APPROVED trna HGNC:34879 MODEL 2300861 TRA-AGC20-1 transfer RNA-Ala (AGC) 20-1 MT 1 1 18984615 100189116 AL358073;HG983574 1700316;2153202 RH103778;RH69433 TRNAA16 APPROVED trna HGNC:34678 2300566 TRA-AGC13-1 transfer RNA-Ala (AGC) 13-1 6;MT 6 26705377 26705449 + 26705377 26705449 + 18984615 100189411 AL591044;AMYH02013354;HG983565 1777638 D4S1500 TRNAA41 APPROVED trna HGNC:34980 MODEL 2300785 TRA-AGC21-1 transfer RNA-Ala (AGC) 21-1 MT 1 1 18984615 100189192 AL591044;HG983575 TRNAA21 APPROVED trna HGNC:34755 2300509 TRA-AGC23-1 transfer RNA-Ala (AGC) 23-1 6 6 6 p22.1 30352853 30352924 - 28746544 28746615 - 28778767 28778838 - 18984615 100189468 ABBA01038026;AL662890;AL844539;AL901607;AMYH02013402;BX088523;BX908720;CR753651;CR759954;HG983577;NG_008526 TRNAA44P APPROVED pseudo HGNC:35040 INFERRED 2300931 TRA-AGC4-1 transfer RNA-Ala (AGC) 4-1 6;MT 6 28626014 28626085 - 28658237 28658308 - 18984615 100189046 ABBA01038024;AL121932;AL671879;AMYH02013397;HG983552 TRNAA7 APPROVED trna HGNC:34605 MODEL 2300930 TRA-AGC5-1 transfer RNA-Ala (AGC) 5-1 6;MT 6 28678366 28678437 + 28710589 28710660 + 18984615 100189047 ABBA01038025;AL390196;AL671879;AMYH02013397;BX088523;HG983553 TRNAA8 APPROVED trna HGNC:34606 MODEL 2300731 TRA-AGC19-1 transfer RNA-Ala (AGC) 19-1 MT 1 1 18984615 100189246 AL596065;HG983573 TRNAA24 APPROVED trna HGNC:34809 2300885 TRA-AGC7-1 transfer RNA-Ala (AGC) 7-1 6;MT 6 28687481 28687552 + 28719704 28719775 + 18984615 100189092 ABBA01038025;AL390196;AL671879;AMYH02013398;BX088523;HG983555;KF458132 TRNAA12 APPROVED trna HGNC:34653 MODEL 1605134 TRA-AGC8-1 transfer RNA-Ala (AGC) 8-1 2;MT 2 p23.3 27274082 27274154 + 27051214 27051286 + 18984615;3613974 100009604 ABBA01045192;AC013472;AMYH02003471;HG983556;M17881 TRNAA3 APPROVED trna HGNC:33254 MODEL 2300579 TRA-AGC8-2 transfer RNA-Ala (AGC) 8-2 8;MT 8 67026424 67026496 + 66114189 66114261 + 18984615 100189398 ABBA01041869;AC084082;AMYH02018106;HG983557 TRNAA39 APPROVED trna HGNC:34966 MODEL 2300678 TRA-AGC3-1 transfer RNA-Ala (AGC) 3-1 6;MT 6 28574933 28575004 + 28607156 28607227 + 18984615 100189299 ABBA01038023;AL121932;AL671879;AMYH02013397;HG983551 TRNAA28 APPROVED trna HGNC:34865 MODEL 2300682 TRA-AGC2-2 transfer RNA-Ala (AGC) 2-2 6;MT 6 28831462 28831533 - 28863685 28863756 - 18984615 100189295 ABBA01038028;AL662890;AL669978;AL844539;AMYH02013403;BX119924;BX908720;CR753651;CR759954;CR936879;HG983550 TRNAA27 APPROVED trna HGNC:34861 MODEL 2300554 TRA-AGC9-2 transfer RNA-Ala (AGC) 9-2 MT 1 1 18984615 100189423 AL591044;HG983559 TRNAA42 APPROVED trna HGNC:34992 2300543 TRA-AGC22-1 transfer RNA-Ala (AGC) 22-1 MT 1 1 18984615 100189434 AL596065;HG983576 TRNAA43 APPROVED trna HGNC:35004 2300669 TRA-CGC1-1 transfer RNA-Ala (CGC) 1-1 6;MT 6 26553731 26553802 + 26553503 26553574 + 18984615 100189308 ABBA01066558;AL121936;AMYH02013354;HG983578 TRNAA29 APPROVED trna HGNC:34875 MODEL 2300935 TRA-AGC6-1 transfer RNA-Ala (AGC) 6-1 6;MT 6 p22.1 28779849 28779920 - 28812072 28812143 - 18984615 100189042 ABBA01038027;AL662890;AL669978;AL844539;AMYH02013403;BX470194;BX908720;CR753651;CR759954;HG983554 TRNAA6 APPROVED trna HGNC:34601 MODEL 2300577 TRA-CGC2-1 transfer RNA-Ala (CGC) 2-1 6;MT 6 28641613 28641684 - 28673836 28673907 - 18984615 100189400 ABBA01038025;AL121932;AL671879;AMYH02013397;HG983579 1705664 SHGC-83407 TRNAA40 APPROVED trna HGNC:34969 MODEL 2300582 TRA-CGC5-1 transfer RNA-Ala (CGC) 5-1 6;MT 6 28663709 28663780 - 28695932 28696003 - 18984615 100189395 ABBA01038025;AL390196;AL671879;AMYH02013397;HG983582 TRNAA38 APPROVED trna HGNC:34963 MODEL 2300956 TRA-CGC3-1 transfer RNA-Ala (CGC) 3-1 2;MT 2 157257281 157257352 + 156400769 156400840 + 18984615 100189021 ABBA01004831;AC092686;AMYH02005031;HG983580 TRNAA4 APPROVED trna HGNC:34580 MODEL 2300944 TRA-CGC4-1 transfer RNA-Ala (CGC) 4-1 6;MT 6 28697092 28697163 + 28729315 28729386 + 18984615 100189033 ABBA01038025;AL390196;AL671879;AMYH02013398;BX088523;HG983581 1730018 D6S248 TRNAA5 APPROVED trna HGNC:34592 MODEL 2300508 TRA-TGC10-1 transfer RNA-Ala (TGC) 10-1 11 11 11 q12.2 58124544 58124613 + 60763508 60763577 + 60996036 60996105 + 18984615 100189469 ABBA01021518;AP003721;HG983593;NG_008527 TRNAA45P APPROVED pseudo HGNC:35041 INFERRED 2300828 TRA-TGC1-1 transfer RNA-Ala (TGC) 1-1 6;MT 6 28757547 28757618 - 28789770 28789841 - 18984615 100189149 ABBA01038026;AL662890;AL844539;AL901607;AMYH02013402;BX088523;BX908720;CR753651;CR759954;HG983583 TRNAA19 APPROVED trna HGNC:34711 MODEL 2300863 TRA-TGC2-1 transfer RNA-Ala (TGC) 2-1 6;MT 6 28611222 28611293 + 28643445 28643516 + 18984615 100189114 ABBA01038024;AL121932;AL671879;AMYH02013397;HG983584 2127372 RH37562 TRNAA15 APPROVED trna HGNC:34676 MODEL 2300697 TRA-TGC3-2 transfer RNA-Ala (TGC) 3-2 5;MT 5 180633868 180633939 + 181206868 181206939 + 18984615 100189280 ABBA01010095;AC008443;AMYH02012917;HG983586 TRNAA26 APPROVED trna HGNC:34846 MODEL 2300638 TRA-TGC4-1 transfer RNA-Ala (TGC) 4-1 12;MT 12 125424512 125424583 + 124939966 124940037 + 18984615 100189339 ABBA01060359;AC093719;AMYH02027479;HG983587 TRNAA32 APPROVED trna HGNC:34907 MODEL 2300911 TRA-TGC5-1 transfer RNA-Ala (TGC) 5-1 6;MT 6 28785012 28785083 - 28817235 28817306 - 18984615 100189066 ABBA01038027;AL662890;AL669978;AL844539;AMYH02013403;BX470194;BX908720;CR753651;CR759954;HG983588 1767767 D6S2275 TRNAA10 APPROVED trna HGNC:34625 MODEL 2300821 TRA-AGC9-1 transfer RNA-Ala (AGC) 9-1 6;MT 6 26771290 26771362 - 26730534 26730606 + 18984615 100189156 ABBA01031632;AL591044;AMYH02013369;FP325329;HG983558 TRNAA20 APPROVED trna HGNC:34718 MODEL 2300721 TRA-TGC8-1 transfer RNA-Ala (TGC) 8-1 MT 1 1 18984615 100189256 AC109635;HG983591 TRNAA25 APPROVED trna HGNC:34819 2300895 TRA-TGC6-1 transfer RNA-Ala (TGC) 6-1 6;MT 6 28726141 28726212 - 28758364 28758435 - 18984615 100189082 ABBA01038026;AL662890;AL901607;AMYH02013400;BX088523;BX908720;CR753651;HG983589 TRNAA11 APPROVED trna HGNC:34642 MODEL 1350834 TRA-TGC7-1 transfer RNA-Ala (TGC) 7-1 6;MT 6 p22.1 28770577 28770647 - 28802800 28802870 - 18984615;8661117 7154 ABBA01038026;AL662890;AL844539;AL901607;AMYH02013402;BX470194;BX908720;CR753651;CR759954;HG983590;Z69591 TRAN;TRNAA1 trna alanine APPROVED trna HGNC:12098 601431 MODEL 2300448 TRA-TGC9-1 transfer RNA-Ala (TGC) 9-1 6 6 6 p22.1 30208257 30208328 - 28601859 28601930 - 28634082 28634153 - 18984615 100189529 ABBA01038024;AL121932;AL671879;AMYH02013397;HG983592;NG_008587 TRNAA46P APPROVED pseudo HGNC:35106 INFERRED 2300745 TRA-TGC3-1 transfer RNA-Ala (TGC) 3-1 12;MT 12 125406301 125406372 - 124921755 124921826 - 18984615 100189232 ABBA01060362;AC126309;AMYH02027479;HG983585 TRNAA23 APPROVED trna HGNC:34795 MODEL 732515 TRA2B transformer 2 beta homolog (Drosophila) This gene encodes a nuclear protein which functions as sequence-specific serine/arginine splicing factor which plays a role in mRNA processing, splicing patterns, and gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 3 3 3 q26.2-q27 184070271 184093839 - 185632356 185655924 - 185914568 185938136 - 6480464;6907045;8554872 10339552;10713112;10749975;11153908;11448987;11875052;12165565;12477932;12531473;12604596;12649279;12761049;12798777;14520560;14559993;14702039;14729963;14765198;15009664;15169763;15324660;15489334;16000324;16051665;16169070;16344560;16964243;17081983;17332742;17353931;17577209;18239623;19037821;19079260;19471022;19608861;19759913;20074680;20360068;20508642;20607830;20926394;21102462;21139048;21145461;21151833;21803291;21890473;21906983;21963094;21988832;22094256;22365833;22939629;22990118;23000965;23084401;23255807;23361474;23396973;23602568;23748175;24098751;24457600;24865968;25027693;7499316;8617505;9212162;9473574;9546399;9671816;9790768 6434 H7BXF3;H7C2L4;P62995 AB209208;ABBA01058399;AC009247;AF057159;AK091863;AK094495;AK098191;AK125610;AK301118;AK308267;AK315632;AMYH02008336;BC000160;BC000451;BC005898;CH471052;CR749214;DA164444;NG_029862;NM_001243879;NM_004593;U61267;U68063;U87836;XM_005247703;XM_006713724 AAB08701;AAB69763;AAC28242;AAD19277;AAD19278;AAD19279;AAH00160;AAH00451;AAH05898;ABM81863;ABW03333;BAC05256;BAD92445;BAG38000;BAG62714;CAH18071;EAW78204;EAW78205;EAW78206;EAW78207;EAW78208;NP_001230808;NP_004584;P62995;XP_005247760;XP_006713787 Hs.533122 2115481;2150766;5022322;5037552;5491246 D11S2560;D8S2279;MARC_5257-5258:991939526:5;SHGC-77608;WI-14755 DKFZp686F18120;Htra2-beta;PPP1R156;SFRS10;SRFS10;TRA2-BETA;TRAN2B OTTHUMP00000210273;OTTHUMP00000210275;TRA-2 beta;splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila);transformer 2 homolog;transformer-2 protein homolog B;transformer-2 protein homolog beta;transformer-2-beta APPROVED protein-coding HGNC:10781 04097 602719 REVIEWED 6770286 TRABD2B TraB domain containing 2B ENCODES a protein that exhibits metalloendopeptidase activity; Wnt-protein binding; INVOLVED IN metabolic process; negative regulation of Wnt signaling pathway; protein oxidation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular vesicular exosome; integral component of organelle membrane; integral component of plasma membrane; INTERACTS WITH valproic acid 1 1 1 p33 46513002 46749292 - 48226200 48463009 - 47760528 47997337 - 6480464;8554872 16710414;20379614;21963094;21987572;22425255;22726442;23251661 388630 A6NFA1 ABBA01050809;ABBA01050810;ABBA01050811;ABBA01050812;AC096541;AC099679;AK090467;AL691459;AMYH02000973;AMYH02000974;AMYH02000975;AMYH02000976;AMYH02000977;AMYH02000978;HG491999;JQ653416;NM_001194986;XM_006710640;XR_426606 A6NFA1;AFN02882;BAC03448;NP_001181915;XP_006710703 Hs.61504 1340128;1670056;1692394;1692734;1758169;1758295;1770133;2111442;2155959 AL009451;AL033845;AL034124;D1S2134;D1S2839;SHGC-147566;SHGC-147957;SHGC-74778;SHGC-74794 RP11-543D5.2;TIKI2 TRAB domain-containing protein 2B;UPF0632 protein A;heart, kidney and adipose-enriched transmembrane protein homolog;metalloprotease TIKI2 protein-coding ENSG00000269113 HGNC:44200 614913 VALIDATED 1601961 TRABD TraB domain containing INTERACTS WITH cobalt dichloride; benzo[a]pyrene (ortholog); cyclosporin A (ortholog) 22 22 22 q13.33 34499271 34512938 + 50624344 50638027 + 50185915 50199598 + 6480464 10591208;11214971;12477932;12529303;14702039;15489334;16196087;20562859;21139048;21906983;21963094;23000965;23455922;23602568;24816145 80305 J3KPT4;Q9H4I3 ABBA01011373;AF218001;AK024447;AK292050;AL022328;AL449244;AMYH02038599;AMYH02038600;AY203945;BC012445;BC093029;CH471138;DQ529300;NM_025204;XM_006724419;XM_006724420;XM_006724421;XM_006724422;XM_006724423;XM_006724424;XM_006724425;XR_430480;XR_430481;XR_430482 AAG17243;AAH12445;AAH93029;AAP34468;ABF71986;BAB15737;BAF84739;CAC15001;EAW73497;EAW73498;EAW73499;EAW73500;EAW73501;EAW73502;NP_079480;Q9H4I3;XP_006724482;XP_006724483;XP_006724484;XP_006724485;XP_006724486;XP_006724487;XP_006724488 Hs.517731 1773017;5020414;5020740;5020946;5022578;5024413 D1S1423;L17688;L17809;L17877;L17971;RH78658 LP6054;MGC110928;PP2447 OTTHUMP00000196711;OTTHUMP00000196712;OTTHUMP00000196713;OTTHUMP00000196714;traB domain-containing protein protein-coding ENSG00000170638 HGNC:28805 11450 PROVISIONAL 1603645 TRA2A transformer 2 alpha homolog (Drosophila) This gene is a member of the transformer 2 homolog family and encodes a protein with several RRM (RNA recognition motif) domains. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013] 7 7 7 p15.3 23533162 23560412 - 23544399 23571656 - 23504780 23532041 - 6480464;6907045 12477932;12761501;14729963;14765198;15324660;15342556;15489334;16097034;16964243;17081983;19322201;19471022;20508642;21110914;21139048;21145461;21382349;21447598;21890473;21900206;21906983;21988832;22094256;22365833;22939629;22990118;23000965;23084401;23255807;23602568;24457600;25027693;8799144;9546399;9847074 29896 B4DQI6;F8WEH2;Q13595;Q549U1 AB052759;AB097048;ABBA01056709;ABBA01056710;AC023105;AK298815;AK300565;AK300741;AK310719;AK311687;AK314801;AMYH02015367;BC017094;BC069011;BG722500;BP376263;CH236948;CH471073;DB445598;NM_001282757;NM_001282758;NM_001282759;NM_013293;U53209;XM_005249725;XM_006715713 AAC50658;AAH17094;AAQ96870;ABM83368;ABM86579;BAC53792;BAC77401;BAG37329;BAG60948;BAG62271;BAG62410;EAW93788;EAW93789;NP_001269686;NP_001269687;NP_001269688;NP_037425;Q13595;XP_005249782;XP_006715776 Hs.445652 1684475;1778243;1778867;2156232;2183129 RH44636;RH47545;RH48760;SHGC-34013;SHGC-37360 AWMS1;HSU53209 OTTHUMP00000158575;TRA-2 alpha;TRA2-alpha;Tra2alpha;htra-2 alpha;htra-2-alpha;putative MAPK activating protein PM24;transformer-2 alpha;transformer-2 protein homolog A;transformer-2 protein homolog alpha APPROVED protein-coding ENSG00000164548 HGNC:16645 04096 602718 REVIEWED 1349761 TRAC T cell receptor alpha constant INVOLVED IN regulation of immune response (inferred); T cell costimulation (inferred); T cell receptor signaling pathway (inferred); ASSOCIATED WITH Autoimmunity (inferred); Autosomal recessive inheritance (inferred); Failure to thrive (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH acetylsalicylic acid; ethyl methanesulfonate; formaldehyde 6480464;8699517;7240710;8554872 28755 P01848 X02592 1647900;1694764;1742669;1775697 D14S1325;G43587;GDB:198197;RH11070 HGNC:12029 186880;615387 2840941 TRABD2A TraB domain containing 2A ENCODES a protein that exhibits metalloendopeptidase activity; Wnt-protein binding; INVOLVED IN metabolic process; negative regulation of Wnt signaling pathway; protein oxidation; FOUND IN integral component of organelle membrane; integral component of plasma membrane; INTERACTS WITH methyl methanesulfonate; valproic acid 2 2 2 p11.2 84877582 84937027 - 85048774 85108369 - 84821650 84881245 - 6480464 12477932;21963094;21987572;22726442 129293 C9IYB5;Q86V40 ABBA01075727;AC010087;AK128325;AK296608;AK309615;AMYH02004158;BC049209;BC051789;BC073808;BG170846;CH471053;JQ653415;NM_001080824;NM_001277053;XM_005264129;XM_005264130;XM_005264131 AAH51789;AFN02881;BAG59220;EAW99549;EAW99551;EAW99552;NP_001074293;NP_001263982;Q86V40;XP_005264186;XP_005264187;XP_005264188 Hs.469134 1298104;1342209;1698986;1850253;1853155;2186707;5022450;5037552;5109281 D10S275;D1S1425;D2S1387;D2S1790;D3S1621;D8S2279;G31007;RH103063;SHGC-33138 C2orf89;FLJ46467;TIKI1 OTTHUMP00000202877;TRAB domain-containing protein 2A;UPF0632 protein C2orf89;hypothetical protein LOC129293;metalloprotease TIKI1 APPROVED protein-coding ENSG00000186854 HGNC:27013 614912 VALIDATED 1319493 TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1 ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN embryonic camera-type eye development (inferred); embryonic digit morphogenesis (inferred); embryonic heart tube development (inferred); FOUND IN axoneme (inferred); ciliary basal body (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; crotonaldehyde 2 2 2 q37.3 232941689 233022043 + 239229185 239309541 + 238320544 238400900 + 1580863;6480464 10791955;12477932;12812986;12935900;17043677;17643375;19251251;19898482;20360068;20379614;20391533;21510943;21832049;21835309;22079989;24250222 26146 H7BZ10;Q8TDR0 ABBA01042605;ABBA01042606;AC012485;AF230877;AF242456;AI356967;AL080153;AMYH02006073;BC059174;BX482493;CH471063;NM_001139490;NM_015650;XM_006712412;XM_006712413;XM_006712414 AAF76984;AAH59174;AAL90444;AAX88977;CAB45744;EAW71156;EAW71157;NP_001132962;NP_056465;Q8TDR0;XP_006712475;XP_006712476;XP_006712477 Hs.631898 1752371;2109993;2119798 RH65470;SHGC-78398;TRAF3IP1_9465 DKFZp434F124;IFT54;MIP-T3;MIPT3 OTTHUMP00000202584;OTTHUMP00000202585;TRAF3-interacting protein 1;interleukin 13 receptor alpha 1-binding protein-1;interleukin-13 receptor alpha 1-binding protein 1;intraflagellar transport protein 54 homolog;microtubule interacting protein that associates with TRAF3;microtubule-interacting protein associated with TRAF3;microtubule-interacting protein that associates with TRAF3 protein-coding ENSG00000204104 HGNC:17861 09571 607380 VALIDATED 1351243 TRAF1 TNF receptor-associated factor 1 The protein encoded by this gene is a member of the TNF receptor (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from various receptors of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thought to link LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family receptors. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 9 9 9 q33-q34 94313094 94339873 - 123664671 123691451 - 120902393 120929173 - 1580863;6480464;6484113;6907045;8554872 10025951;10037686;10411888;10514511;10544141;10635328;10692572;10809768;10837247;10903733;11035039;11098060;11181075;11278268;11279055;11313261;11384837;11435475;11607847;11696595;11728344;11804591;11907583;12089335;12411322;12477932;12529173;12709429;12887920;14557256;14743216;14981539;14982987;15084608;15383523;15468071;15489334;15707590;15941918;15944293;16304992;16323247;16713569;16891304;17207965;17235653;17405906;17544371;17804836;17827388;17880261;18429822;18432273;18434327;18576341;18593758;18625278;18759306;18794853;19023125;19110536;19116907;19180477;19287455;19336370;19336421;19394292;19401279;19416238;19433411;19453261;19503088;19540595;19565500;19617629;19641626;19674979;19698991;19714643;19741008;19795416;19902201;19913121;19918040;20030635;20049410;20056178;20138174;20205706;20219786;20233754;20237496;20353580;20385093;20413583;20439292;20444755;20447407;20453842;20479942;20498205;20614026;20628086;20797713;20800603;20822712;20856938;20962850;21048031;21139048;21153322;21383967;21492465;21724995;21903422;21968398;21988832;22184633;22196377;22284611;22586175;22820624;23088713;23125866;23242182;23321589;23333304;23381138;23414308;23524849;23543740;23710202;23798571;23918987;24144456;24234752;24321457;24390342;24722188;25015289;7527023;7859281;8069916;8548810;8565075;8612133;8627180;8662842;8692885;8702708;8710854;8943045;9104814;9162022;9168896;9208847;9275204;9300817;9384571;9418902;9464265;9488716;9500555;9607925;9642260;9705938;9718306;9774460;9774977;9794406;9852070;9928991 7185 Q13077 ABBA01016240;AC006430;AK090468;AK295959;AK315476;AL832989;AMYH02021575;AW014547;BC024145;BT019408;CH471090;HI574112;NG_023346;NM_001190945;NM_001190947;NM_005658;U19261 AAA62309;AAH24145;AAV38215;ADQ32235;BAC03449;BAG37860;BAG58739;CAH56343;CBX47545;EAW87479;NP_001177874;NP_001177876;NP_005649;Q13077 Hs.531251 1651220;1664561;1669601;1675784;1777861 RH17818;RH79125;RH94100;SGC35347;SHGC-30554 EBI6;MGC:10353 Epstein-Bar virus-induced protein 6;OTTHUMP00000022000;epstein-Barr virus-induced protein 6 APPROVED protein-coding ENSG00000056558 HGNC:12031 03418 601711 REVIEWED 70502 TP53 tumor protein p53 This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons (PMIDs: 12032546, 20937277). [provided by RefSeq, Feb 2013] 17 17 17 p13.1 7598099 7617224 - 7571720 7590868 - 7668402 7687550 - 1580742;1580743;1302543;1302544;1331525;1302545;1580863;1302573;1300048;1358139;2290536;2290541;2290573;2290535;2290544;2290545;2290568;2290534;2290537;2290542;2290557;2290572;2290531;2290533;2290540;2289931;2298527;2298525;2298526;2290554;2290561;2290532;2290539;2290551;2290571;2290577;2316186;2316155;2316156;4143515;5133242;5490966;6480464;6484113;6907045;7240710;8547794;8547838;8547848;7248687;8547808;8547764;8547833;8547807;8547850;8547844;8547760;8547872;8547828;8547855;5688732;8547757;8547763;8547768;8547851;8547871;7387247;8547796;8547825;8547832;8547873;8547874;8547762;8547771;8547823;8547822;8547841;8547834;8547787;8547790;8662307;8554872;8693397;8663431;8663430;8699517;8662391;8662305 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AAA59987;AAA59988;AAA61211;AAA61212;AAB28601;AAB39322;AAC12971;AAD28535;AAD28628;AAF36354;AAF36355;AAF36356;AAF36357;AAF36358;AAF36359;AAF36360;AAF36361;AAF36362;AAF36374;AAF36375;AAF36376;AAF36377;AAF36378;AAF36379;AAF36380;AAF36381;AAF36382;AAF63442;AAF63443;AAG28785;AAH03596;AAK76358;AAK76359;AAP30003;AAQ90158;AAR10356;AAR13239;AAT40418;AAV38428;AAV80424;AAZ05887;ABA29753;ABA29754;ABA29755;ABA29756;ABA29757;ABB72446;ABB80262;ABB80266;ABD62752;ABF51616;ABF51617;ABF51618;ABF51619;ABF61799;ABF61800;ABG49480;ABG49481;ABG49482;ABG67755;ABL09846;ABL09847;ABL09848;ABM83418;ABM86630;ACI25593;AEX20383;AEY81366;AEY81367;AEY81368;AEY81369;AFN61604;AFN61605;AFN61606;AGR27803;AGR27804;AGR27805;AGR27806;AGR27807;AGR27808;AGR27809;AGR27810;AGR27811;AGR27812;AGR27813;AGR27814;AGR27815;AGR27816;AGR27817;AGR27818;AGR27819;AGR27820;AGR27821;AGR27822;AGR27823;AGR27824;AGR27825;AGR27826;AGR27827;AGR27828;AGR27829;AGR27830;AGR27831;AGR27832;AGR27833;AGR27834;AGR27835;AGR27836;AGR27837;AGR27838;AGR27839;AGR27840;AGR27841;AGR27842;AGR27843;AGR27844;AGR27845;AGR27846;AGR27847;AGR27848;AGR27849;AGR27850;AGR27851;AGR27852;AGR27853;AGR27854;AGR27855;AGR27856;AGR27857;AGR27858;AGR27859;AGR27860;AGR27861;AGR27862;AGR27863;AGR27864;AGR27865;AGR27866;AGR27867;AGR27868;AGR27869;AGR27870;AGR27871;AGR27872;AGR27873;AGR27874;AGR27875;AGR27876;AGR27877;AGR27878;AGR27879;AGR27880;AGR27881;BAC16799;BAD11806;BAD96746;BAG35463;BAG59884;BAG60244;BAG64357;CAA25652;CAA26306;CAA38095;CAA42625;CAA42626;CAA42627;CAA42628;CAA42629;CAA42630;CAA42631;CAA42632;CAA42633;CAA42634;CAA42635;CAJ28922;CAJ28923;CAJ28924;CDM63359;EAW90140;EAW90141;EAW90142;EAW90143;EAW90144;EAW90145;NP_000537;NP_001119584;NP_001119585;NP_001119586;NP_001119587;NP_001119588;NP_001119589;NP_001119590;NP_001263624;NP_001263625;NP_001263626;NP_001263627;NP_001263628;NP_001263689;NP_001263690;P04637 Hs.437460;Hs.740601 1673708;1736682;1741087;1741103;1741111;1741191;1741517;1741519;1741649;1741899;1741943;1741949;1742009;1742061;1742985;1743427;1743643;1743645;1743647;1743649;1743651;1743653;1743655;1743657;1745395;1745397;1745409;1791346;1791724;1791726;1791728;1792038;1792040;1792640;1793422;1793424;1793426;1793428;1793958;1794644;1794860;1796992;2170101;5015619;5022578 D11S3114;D17S1506E;D17S1678;D1S1423;GDB:177724;GDB:177797;GDB:177814;GDB:178567;GDB:181271;GDB:181272;GDB:181608;GDB:186560;GDB:186921;GDB:186984;GDB:188738;GDB:190076;GDB:227151;GDB:316876;GDB:363686;GDB:363689;GDB:363692;GDB:363698;GDB:363701;GDB:363704;GDB:363724;GDB:363795;GDB:604633;GDB:605513;GDB:606441;PMC105081P1;PMC122799P1;PMC122799P2;PMC122799P3;PMC135765P1;PMC135765P2;PMC156059P1;PMC22021P1;PMC22021P2;PMC22021P3;PMC22021P4;PMC310707P2;PMC340938P3;PMC60253P1;TP53_278;WI-20715 BCC7;FLJ92943;LFS1;P53;TRP53 OTTHUMP00000221333;OTTHUMP00000221334;OTTHUMP00000221336;OTTHUMP00000221337;OTTHUMP00000221340;antigen NY-CO-13;cellular tumor antigen p53;mutant p53 protein;mutant tumor protein 53;p53 antigen;p53 transformation suppressor;p53 tumor suppressor;phosphoprotein p53;transformation-related protein 53;truncated p53 protein;tumor protein 53;tumor suppressor TP53;tumor suppressor p53 APPROVED protein-coding ENSG00000141510 HGNC:11998 01859 114480;114500;114550;137800;151623;191170;202300;259500;260350;260500;607107;614740 REVIEWED 1352584 TRAF3IP2-AS2 TRAF3IP2 antisense RNA 2 (non-protein coding) q21 10903453 23736 AF136408 Hs.486228 C6UAS;C6orf3;NCRNA00248 APPROVED miscrna HGNC:1342 1312403 TRAF3IP2 TRAF3 interacting protein 2 This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009] 6 6 6 q21 112626739 112674049 - 111876581 111927477 - 111555378 111606274 - 6480464;8699517;7240710 10903453;10962024;10962033;12089335;12133833;12163033;12459498;12477932;12761501;12943667;14574404;14702039;15485634;15489334;16189514;16344560;17213182;17277779;17982039;18061473;19825828;20467438;20543113;20953186;20953188;20953190;21749686;22045853;22445837;22513239;22581863;22851696;23066157;23128233;23737552;23836313;23862741;23995070;24120361;24416204 10758 O43734 ABBA01026085;ABBA01026086;AF085921;AF136405;AF136406;AF136407;AF272151;AF274303;AK025351;AK026602;AK310141;AK310922;AK314415;AL008730;AL050289;AMYH02014306;AW296296;AW513823;BC002823;BC026723;BE904103;BI856094;BM449775;CB049654;CH471051;CS135278;DA130363;DA836923;DC348710;DT217829;NG_032030;NM_001164281;NM_001164283;NM_147686;NR_028338;XM_006715319;Z97989 AAF67445;AAF67446;AAF67447;AAG15367;AAG15407;AAH02823;ADZ15458;BAB15117;BAB15507;BAG37036;CAB43390;CAJ21527;EAW48285;EAW48286;EAW48287;EAW48288;NP_001157753;NP_001157755;NP_679211;O43734;XP_006715382 Hs.561514;Hs.740602 1657799;1663042;1666589;1670402;1773411;1847220;1849936;1851636;2135525;2146863;2159848;2162759;2169092;2178614;5014732;5016478;5016596;5020414;5022578;5037552;5092876;5109281;5117897;5120437 A002J25;A009B26;AL022468;B334ZD1;D1S1423;D1S1425;D6S2103;D8S2279;G32386;G38229;GDB:315881;GDB:434012;GDB:631802;GDB:631813;L17688;RH16468;RH37457;RH46812;RH66319;SHGC-31915;SHGC-32114;SHGC-34834;WI-19981;WI-22075 ACT1;C6orf2;C6orf4;C6orf5;C6orf6;CANDF8;CIKS;DKFZp586G0522;MGC3581;PSORS13 NFkB-activating protein ACT1;OTTHUMP00000017022;OTTHUMP00000017023;OTTHUMP00000017024;OTTHUMP00000017025;TRAF3-interacting protein 2;adapter protein CIKS;connection to IKK and SAPK/JNK;nuclear factor NF-kappa-B activator 1 APPROVED protein-coding ENSG00000056972 HGNC:1343 06129 607043;614070;615527 REVIEWED 1350695 TRADD TNFRSF1A-associated via death domain The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. [provided by RefSeq, Jul 2008] 16 16 16 q22 51696331 51702055 - 67188088 67193812 - 67154185 67159909 - 1580863;2292150;5685014;6480464;6484113;6907045;7794683;8554872 12655295;18552980;21235323 10187805;10356400;1040062;10400625;10544141;10848577;10892748;10911999;10980203;11032752;11035039;11112409;11112773;11181075;11226577;11435712;11479302;11684708;11821416;11934887;12045187;12107169;12417987;12446787;12477932;12576460;12604596;12665801;12753742;12761501;12796506;12887920;12911633;14585990;14644197;14660619;14702039;14743216;15103018;15247912;15310755;15485837;15489334;15707590;15761471;16006552;16227624;16344560;16603398;16611992;17051333;17235653;17540176;17702576;17922260;18174230;18198944;18309324;18661484;18776134;18939944;18990758;19151112;19176810;19287455;19336370;19379743;19453261;19573080;19773279;19781631;19815541;19854717;20005846;20568250;20628368;21068102;21421854;21724995;21906983;22099304;22170762;22179575;22297296;22510408;22561347;23732909;23908590;23955153;23982205;24070137;24130170;24250222;24361886;24374337;24686082;24735611;24980434;7758105;8565075;8612133;8621670;8681376;8702708;8934525;8943045;9020361;9082980;9356494;9427646;9430227;9560245;9714541;9915703;9916731;9916988 8717 Q15628 ABBA01025431;AC074143;AJ307882;AJ311614;AJ311615;AJ311616;AK090673;AK301593;AK315654;AMYH02032225;AY575851;AY995114;BC004491;BG717460;BQ707739;BT006934;CA426418;CH471092;DA353575;HD119556;L41690;NM_003789;XM_005256213 AAA98482;AAH04491;AAP35580;AAS68637;AAX89407;ABM84345;ABM87737;BAG38020;BAG52211;BAG63082;CAC38018;CBW52910;EAW83081;NP_003780;Q15628;XP_005256270 Hs.460996 1798292;1855221;2121055 RH69054;RH78922;TRADD_1477 Hs.89862;MGC11078 OTTHUMP00000174816;TNFR1-associated death domain protein;tumor necrosis factor receptor type 1 associated death domain protein;tumor necrosis factor receptor type 1-associated DEATH domain protein;tumor necrosis factor receptor-1-associated protein APPROVED protein-coding HGNC:12030 04610 603500 REVIEWED 1604284 TRAF3IP3 TRAF3 interacting protein 3 The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] 1 1 1 q32 183160288 183186562 + 209929393 209955668 + 209756032 209782323 + 6480464;8554872 12477932;14572659;14702039;15489334;16147992;16710414;17203973;17277885;17868742;18782753;20379614;23333304;23376921;8125298 80342 B1AJU2;C9J0C0;C9JBA0;C9JXB3;E2QRE5;H0YF09;Q9Y228 ABBA01048213;ABBA01048214;AK092905;AK122792;AK125601;AK126139;AK225762;AK300555;AK312755;AL022398;AL049667;AL558384;AMYH02002600;BC110302;BC130417;BC144139;BQ277340;BX648450;CA436636;CB053101;CH471100;NG_033934;NM_001287754;NM_025228;NR_109871;XM_005273279;XM_005273280;XR_247044 AAI10303;AAI30418;AAI44140;BAG54221;BAG62261;CAB41242;EAW93441;EAW93442;EAW93443;EAW93444;NP_001274683;NP_079504;Q9Y228;XP_005273336;XP_005273337 Hs.147434 1683301 RH98355 DJ434O14.3;FLJ44151;MGC117354;MGC163289;T3JAM OTTHUMP00000034645;OTTHUMP00000034646;OTTHUMP00000038604;OTTHUMP00000216868;OTTHUMP00000216869;TRAF3 interacting Jun N terminal kinase (JNK) activating modulator;TRAF3-interacting JNK-activating modulator;TRAF3-interacting protein 3 APPROVED protein-coding ENSG00000009790 HGNC:30766 16305 608255 REVIEWED 1315478 TRAF4 TNF receptor-associated factor 4 This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 17 17 17 q11-q12 23930211 23937232 + 27071023 27077976 + 28744005 28750958 + 1580863;6480464;6907045;8554872 10514511;11279055;11384837;11562359;11607847;11728344;11943846;12023963;12354113;12477932;12788948;12801526;15231748;15489334;15941918;16052631;16157600;16799635;16969126;17927880;18087216;18593758;18953416;19779646;19937093;20056178;20237496;20946164;21097508;21139048;21890473;21906983;21963094;21987572;22493164;22505724;22547678;22649194;23381138;23388826;23431243;23455924;23743189;23760265;23908043;23973329;24100420;24154876;24311986;24419373;24457600;24722188;7490069;7592751;9507120;9626059;9718306 9618 C9JJ10;F6SA91;J3QR87;J3QS94;J9JIG0;K7EJG7;K7EM06;K7ER49;Q9BUZ4 ABBA01015046;AC010761;AF082185;AK300804;AMYH02033228;AY937222;AY937223;AY937224;BC001769;BC026726;BC047358;CH471159;CR990949;DQ323999;NM_004295;X80200 AAC32376;AAH01769;AAY16988;AAY16989;AAY16990;ABC40750;ABM83751;ABM87070;BAG62461;CAA56491;EAW51138;EAW51139;EAW51140;EAW51141;EAW51142;NP_004286;Q9BUZ4 Hs.8375 1671985;1796998 RH16881;TRAF4_282.2 CART1;MLN 62;MLN62;RNF83 OTTHUMP00000163519;RING finger protein 83;cysteine-rich domain associated with RING and Traf domains protein 1;cysteine-rich domain associated with ring and TRAF domain;malignant 62;metastatic lymph node gene 62 protein;tumor necrosis receptor-associated factor 4A APPROVED protein-coding ENSG00000076604 HGNC:12034 03915 602464 REVIEWED 7206876 TRAF6P1 TNF receptor-associated factor 6 pseudogene 1 10 10 10 q21.1 54162150 54163707 - 60896385 60897942 - 59136625 59138182 - 644871 ABBA01019444;AC016398;AMYH02023160;NG_022147 pseudo HGNC:45032 INFERRED 1605425 TRAF5 TNF receptor-associated factor 5 The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 q32 184726625 184774964 + 211499849 211548403 + 211326526 211375061 + 6480464;6907045;7800730 23085193 10025951;10075662;10449775;10514511;10523862;10764746;10809768;10880535;10908663;11035039;11279055;11384837;11435475;11479302;11562359;11607847;11882293;11971184;12000717;12089335;12169272;12220533;12296995;12477932;12529173;12761501;12842894;14517219;14702039;14982987;15121867;15383523;15489334;15708970;15749123;15941918;16344560;17277003;17384642;17544371;18029348;18990758;19573080;19773279;19937093;20056178;20138174;20161788;20237496;20331378;20568250;20614026;20676093;21041727;21048031;21903422;21988832;22493164;22593207;23329887;23381138;23774506;24020968;24416204;8663299;8790348;8889548;8999898;9126477;9153189;9162022;9177772;9275204;9488716;9511754;9582383;9642260;9685412;9718306;9774460;9774977;9852070;9990007 7188 D3DT93;O00463 AB000509;ABBA01048192;AK126502;AK295766;AK303286;AL590101;AMYH02002624;BC029600;BC032830;BM453281;BU676629;CD709275;CH471100;CR536557;DB218840;DB290838;NM_001033910;NM_004619;NM_145759;U69108;XM_005273249;XM_006711524 AAC51329;AAH29600;ACT64504;ACT64505;BAA25262;BAG54338;BAG58591;BAG64364;CAG38794;EAW93419;EAW93420;EAW93421;EAW93422;NP_001029082;NP_004610;NP_665702;O00463;XP_005273306;XP_006711587 Hs.523930 1714325;1852410;2132647;5037552 D1S2353;D8S2279;RH119942;SHGC-76306 MGC:39780;RNF84 OTTHUMP00000035055;OTTHUMP00000035056;RING finger protein 84 APPROVED protein-coding ENSG00000082512 HGNC:12035 03834 602356 REVIEWED 1354300 TRAJ1 T cell receptor alpha joining 1 28754 X02884 HGNC:12037 1312182 TRAF3 TNF receptor-associated factor 3 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. Several alternatively spliced transcript variants encoding three distinct isoforms have been reported. [provided by RefSeq, Dec 2010] 14 14 14 q32.32 83297948 83426752 + 103243816 103377837 + 102777479 102911500 + 5685014;6480464;6907045 21235323 10025951;10037686;10199393;10207006;10352240;10514511;10523862;10557073;10635328;10644711;10764746;10781837;10791955;10799510;10809768;10837247;10862698;10903733;10984535;11035039;11098060;11226259;11261798;11278268;11279055;11384837;11435475;11562359;11607847;11728344;11950878;12005438;12089335;12136149;12169272;12220533;12270937;12471121;12477932;12529173;12571250;12637493;12860972;14517219;14572659;14716302;14743216;14982987;15084608;15208311;15280356;15383523;15485634;15489334;15514968;15585864;15708970;15941918;15944293;16009714;16260598;16280329;16306936;16311516;16429118;16582590;16858409;17544371;17586463;17608743;17626074;17692805;17823124;17878343;17991829;18042799;18275617;18607851;18614628;19023125;19074885;19419966;19667091;19693093;19893624;19913121;19937093;19954665;19996094;20008286;20056178;20080758;20097753;20138174;20161788;20174559;20185819;20237496;20348096;20504251;20585848;20614026;20628086;20800603;20832341;21041452;21041727;21084666;21139048;21200404;21228035;21660053;21703539;21864338;21885437;21890473;21903422;21906983;21963094;21988832;22011580;22017431;22022264;22079989;22330071;22469134;22709905;22715070;22792062;22901541;22908223;22945920;23303668;23308279;23329887;23333941;23334419;23381138;23524849;23543740;23545497;23612708;23717208;23962979;23986588;24260396;24366338;24577058;24586659;24622840;24671418;24763515;25015289;7527023;7530216;7533327;7859281;8565075;8612133;8626767;8662842;8663299;8710854;9122217;9162022;9168896;9275204;9384571;9388227;9418902;9464265;9488716;9550380;9582383;9718306;9774460;9774977;9794406;9852070;9990007 7187 A6NHG8;H0YL25;H0YL26;H0YMI8;Q13114 ABBA01048450;ABBA01048451;ABBA01048452;ABBA01048453;ABBA01048454;AF110908;AK303172;AL117209;AL132801;AMYH02029907;AMYH02029908;AMYH02029909;AMYH02029910;BC075086;BC075087;BQ000015;BX247977;CH471061;L38509;NG_027973;NM_001199427;NM_003300;NM_145725;NM_145726;U15637;U19260;U21092;XM_006720244 AAA56753;AAA65732;AAA68195;AAC50112;AAD29276;AAH75086;AAH75087;BAH13910;CAD62311;EAW81795;EAW81796;EAW81797;NP_001186356;NP_003291;NP_663777;NP_663778;Q13114;XP_006720307 Hs.510528 1341897;1769539;1773681;1796996;2129352;2147324;2171483;5126358;7187061 D14S272;G15867;G35442;G35638;RH69049;SGC34698;TRAF3_1584;WI-13969 CAP-1;CAP1;CD40bp;CRAF1;IIAE5;LAP1 CD40 associated protein 1;CD40 binding protein;CD40 receptor associated factor 1;CD40 receptor-associated factor 1;CD40-binding protein;LMP1 associated protein;LMP1-associated protein 1 APPROVED protein-coding ENSG00000131323 HGNC:12033 03539 601896;614849 REVIEWED 1605702 TRAFD1 TRAF-type zinc finger domain containing 1 The innate immune system confers host defense against viral and microbial infection, and TRAFD1 is a negative feedback regulator that controls excessive immune responses (Sanada et al., 2008 [PubMed 18849341]).[supplied by OMIM, Dec 2009] 12 12 12 q 112188835 112216894 + 112563349 112591408 + 112125545 112153604 + 6480464 12477932;15302935;15489334;16196087;16221674;16565220;16964243;17081983;17500595;17554300;18781797;18849341;19862010;21139048;21890473;21906983;21942715;21963094;21987572;22505724;23000965;23275563;23314748;23398456;23455922;23602568;25015289;8889548 10906 F8VNX8;F8VVF3;F8VWK2;O14545;S4R2Z9 AB007447;ABBA01019919;AC073575;AK122620;AK291331;AK295474;AK309916;AK312601;AMYH02027215;AMYH02027216;AMYH02027217;BC003553;BG828961;CA314188;CH471054;NM_001143906;NM_006700 AAH03553;ABM83456;ABM86667;BAA22541;BAF84020;BAG58401;EAW97995;EAW97996;EAW97997;NP_001137378;NP_006691;O14545 Hs.5148 1648910;1736280;1739397;1782648;2110987;2163702;2181974;5091263;5092996;5114892 A002Y44;A006C17;A009D45;D12S1234E;D12S275E;D1S2331E;G32459;L17746;RH64950;SHGC-149403 FLN29 FLN29 gene product;OTTHUMP00000241760;TRAF-type zinc finger domain-containing protein 1 APPROVED protein-coding ENSG00000135148 HGNC:24808 10994 613197 VALIDATED 5131809 TRAF3IP2-AS1 TRAF3IP2 antisense RNA 1 ASSOCIATED WITH Psoriasis (inferred); INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate; valproic acid 6 6 6 q21 112551239 112670077 + 111804675 111923498 + 111483472 111602295 + 6480464 10903453;20953186;20953188;23128233 643749 ABBA01026085;ABBA01026086;ABBA01026087;ABBA01026088;ABBA01026089;AF136408;AL008730;AL136310;AMYH02014305;AMYH02014306;BC031311;BC043575;BX647114;HG499527;HG499528;HG499529;HG499530;HG499531;HG499532;HG499534;HG499538;NR_034108;NR_034109;NR_034110;NR_034111;Z97989 Hs.486228 1654609;1657799;1659606;1663042;1666589;1670402;1699794;1773411;1774280;1847220;1849936;1851636;2135525;2146863;2157706;2159848;2162759;2169092;2178614;5015861;5015881;5092876;7185938 A002J25;A009B26;AL022468;B334ZD1;D10S16;D6S2103;G32386;GDB:335751;RH103504;RH16468;RH37457;RH46389;RH46812;RH66319;SHGC-31915;SHGC-32114;SHGC-34834;SHGC-53381;SHGC-56712;STS-N30426;WI-19981;WI-22075 C6UAS;C6orf3;NCRNA00248;RP3-487J7.2;TRAF3IP2-AS2 APPROVED ncrna ENSG00000231889 HGNC:40005 VALIDATED 1353228 TRAJ10 T cell receptor alpha joining 10 28745 M94081 HGNC:12038 1321367 TRAF2 TNF receptor-associated factor 2 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008] 9 9 9 q34 110295018 110335296 + 139776341 139821853 + 136886513 136926615 + 1580863;2292150;2296020;5130945;6480464;6484113;6907045;7800730;8554872 12215209;12655295;20967881;23085193 10025951;10037686;10075662;10206649;10339433;10346818;10352240;10411888;10477597;10490605;10514511;10521462;10523862;10544141;10581243;10617615;10650002;10753917;10759890;10764746;10809768;10837247;10880535;10882101;10892748;10903733;10911999;10980203;10990461;11035039;11057907;11064452;11112773;11181075;11278268;11278723;11279055;11340079;11359906;11384837;11435475;11466612;11479302;11562359;11607847;11728344;11777919;11784851;11798190;11804591;11805080;11821416;11882293;11907088;11907583;11909853;11932422;11971184;12005438;12136106;12169272;12220533;12296995;12411322;12411493;12477932;12529173;12547194;12571250;12591926;12637493;12796506;12842894;12843613;12867425;12887920;12917689;12917690;12917691;14517219;14557256;14585990;14633987;14644197;14702039;14741690;14743216;14982987;15084608;15121867;15125833;15208311;15258597;15265700;15308666;15310755;15327770;15383523;15485634;15485837;15489334;15670770;15670977;15696169;15707590;15708970;15743837;15861135;15941918;15944293;16009713;16153868;16189514;16214042;16227629;16260598;16263936;16282325;16291755;16304992;16311516;16341674;16378096;16446357;16603398;16611992;16636664;16713569;16876162;16891304;16936264;17015619;17314283;17379600;17384642;17389591;17544371;17599408;17626074;17724081;17851586;17923499;18022363;18024283;18029348;18069092;18221368;18230756;18271526;18292192;18312353;18362156;18362886;18671942;18776134;18787502;18818748;18827186;18950704;18981220;18990758;19019335;19150425;19151112;19234489;19243308;19287455;19336370;19380743;19453261;19506082;19527514;19573080;19584093;19586614;19667091;19690440;19773279;19795416;19810754;19815509;19815541;19937093;20005846;20047764;20056178;20064526;20133937;20138174;20184394;20237496;20333651;20348096;20368287;20385093;20447407;20448643;20449947;20562859;20568250;20577214;20585848;20614026;20628086;20676093;20732415;20856938;20949042;20972266;21041452;21041727;21071692;21078302;21078624;21119000;21139048;21229359;21266470;21282461;21282507;21289304;21325409;21331077;21421854;21620750;21653699;21793045;21810480;21864338;21886773;21890473;21903422;21906983;21921033;21963094;21987572;21988832;22029577;22078441;22167321;22170762;22179575;22184250;22195745;22212761;22271254;22343716;22505724;22525270;22550173;22585859;22685297;22711886;22732732;22792062;22847298;22863753;23000965;23007157;23051914;23088713;23142077;23160117;23188828;23301098;23319823;23357418;23381138;23405219;23414308;23453969;23524849;23543740;23595117;23608757;23624947;23638224;23690480;23743189;23754945;23774506;23775076;23885119;23890813;23918987;23972990;24008839;24276241;24429366;24434549;24457600;24457959;24457966;24464131;24633224;24722188;24726327;24735611;24841215;24912918;24980434;25029497;25056949;7639698;7758105;8069916;8125298;8548810;8565075;8612133;8627180;8643514;8662842;8692885;8702708;8710854;8875942;8943045;8985011;8999898;9020361;9104814;9153189;9162022;9168896;9208847;9244310;9275204;9353251;9384571;9418902;9461607;9464265;9488716;9500555;9582383;9607925;9685412;9692890;9705938;9712898;9718306;9733516;9774460;9774977;9794406;9827693;9852070;9990007 7186 B1AMX7;B1AMX8;B1AMX9;B1AMY1;Q12933 ABBA01022731;ABBA01022732;AK054686;AK222961;AK289722;AK294607;AK298370;AL355987;AL449425;AMYH02021914;AY623660;BC032410;BC033810;BC043492;BC064662;BM785733;BX538160;CH471090;HM991672;NM_021138;XM_005266099 AAH32410;AAH33810;AAH43492;AAH64662;AAT27320;ABM84542;ABM85690;ACE86698;ACE86716;ACE87382;ACE87402;ADQ89802;BAB70792;BAF82411;BAG57794;BAG60609;CAD98040;EAW88299;EAW88300;EAW88301;EAW88302;EAW88303;EAW88304;EAW88305;NP_066961;Q12933;XP_005266156 Hs.522506 2157540;5095975;5125741 RH79117;STS-H09083;WI-18599 MGC:45012;TRAP;TRAP3 E3 ubiquitin-protein ligase TRAF2;OTTHUMP00000022623;OTTHUMP00000022625;tumor necrosis factor type 2 receptor associated protein 3;tumor necrosis factor type 2 receptor-associated protein 3 APPROVED protein-coding ENSG00000127191 HGNC:12032 03538 601895 REVIEWED 1346678 TRAJ11 T cell receptor alpha joining 11 28744 M94081 HGNC:12039 1347755 TRAJ12 T cell receptor alpha joining 12 28743 X02885 HGNC:12040 1344434 TRAJ13 T cell receptor alpha joining 13 28742 M94081 HGNC:12041 1315706 TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate signal transduction from, members of the TNF receptor superfamily. This protein mediates signaling from members of the TNF receptor superfamily as well as the Toll/IL-1 family. Signals from receptors such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protein. This protein also interacts with various protein kinases including IRAK1/IRAK, SRC and PKCzeta, which provides a link between distinct signaling pathways. This protein functions as a signal transducer in the NF-kappaB pathway that activates IkappaB kinase (IKK) in response to proinflammatory cytokines. The interaction of this protein with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquitin conjugating enzymes catalyzing the formation of polyubiquitin chains, has been found to be required for IKK activation by this protein. This protein also interacts with the transforming growth factor (TGF) beta receptor complex and is required for Smad-independent activation of the JNK and p38 kinases. This protein has an amino terminal RING domain which is followed by four zinc-finger motifs, a central coiled-coil region and a highly conserved carboxyl terminal domain, known as the TRAF-C domain. Two alternatively spliced transcript variants, encoding an identical protein, have been reported. [provided by RefSeq, Feb 2012] 11 11 11 p12 36661891 36684256 - 36505317 36531863 - 36483767 36510313 - 1580863;5490218;5130945;5490215;5685014;6480464;6484113;6907045;7240533 18535784;20086235;20626350;20967881;21235323 10022904;10025951;10066798;10075662;10094049;10346818;10383454;10411888;10465784;10514511;10523862;10635328;10747026;10748240;10764746;10791955;10880535;10882101;10908663;10920205;10921914;11035039;11057907;11244088;11250893;11259596;11278268;11279055;11287640;11384837;11397809;11406619;11418661;11435475;11463333;11518704;11544529;11607847;11728344;11751921;11809792;11847341;11882293;11960013;12048196;12060722;12138165;12140561;12193732;12220533;12242293;12270937;12296995;12459498;12477932;12496252;12566447;12609980;12637493;12714497;12721283;12761501;12787561;12804775;12843241;12874243;12917689;12917691;12925853;14500659;14530355;14550571;14593105;14625308;14633987;14661019;14665433;14702039;14702098;14743216;14754897;14960584;14982987;14996708;15121867;15125833;15147900;15247281;15276183;15280356;15308666;15327770;15334086;15340068;15361868;15456887;15474016;15489334;15492226;15591054;15634933;15665823;15670770;15721744;15836773;15870274;15894263;15917247;15953362;16024789;16052631;16079148;16115877;16125763;16153868;16184196;16189514;16196101;16221674;16230348;16246731;16251197;16252010;16260598;16280329;16286016;16286467;16313339;16344560;16354686;16378096;16382137;16436380;16446357;16452479;16484229;16517750;16527194;16543409;16630834;16635910;16697380;16874300;16914100;16920630;16932746;16951688;16997282;17047224;17124500;17135271;17197697;17277779;17314283;17327397;17346928;17353931;17363736;17377523;17449468;17544371;17562285;17562858;17572386;17608743;17709375;17720800;17724081;17728323;17785851;17878161;17878343;17905570;17942533;17948050;17982039;17986144;18029348;18056395;18070982;18093978;18164316;18180283;18234474;18246070;18299187;18326498;18329614;18345001;18347055;18411265;18457658;18474871;18617513;18625728;18634786;18682563;18710948;18724939;18758450;18759459;18768464;18782768;18922473;18950704;18952891;18977328;18984593;18987746;18996842;19012753;19112497;19166926;19176615;19201866;19232515;19232518;19234489;19254290;19331827;19365808;19453261;19465916;19521662;19549727;19573080;19586614;19592251;19592497;19675569;19683680;19713527;19716405;19773279;19786094;19795416;19810754;19825828;19843958;19879840;19898481;19903815;19913121;19937093;19996094;20043910;20047764;20056178;20064081;20079715;20080758;20097753;20138174;20237496;20331378;20410276;20449947;20501938;20512936;20529958;20542134;20568250;20588308;20614026;20622874;20628086;20628368;20634198;20644648;20676093;20677014;20813000;20932475;20974803;21041452;21041727;21048031;21068390;21078302;21097508;21113135;21127049;21139048;21183682;21185369;21220427;21312055;21412053;21435586;21454471;21460221;21557901;21625535;21629263;21703539;21725320;21805090;21813202;21816939;21832049;21886773;21896478;21903422;21906983;21909504;21911421;21911935;21940676;21980489;21988832;22011580;22029577;22033216;22033459;22095711;22140520;22231568;22303480;22323536;22326918;22447928;22450746;22493164;22513239;22589256;22590573;22593207;22643835;22644879;22656185;22719861;22736025;22851693;22851696;22863753;22886393;22901274;22908223;22924441;23013936;23017601;23018911;23042151;23055197;23105109;23172226;23185365;23244239;23264041;23322406;23358926;23365429;23381138;23399697;23431243;23437331;23478027;23514740;23524849;23524951;23545497;23564640;23575687;23608757;23685241;23707529;23717208;23722539;23774506;23776175;23792447;23794009;23794111;23799152;23818111;23885119;23909487;23911927;23942232;23962979;23986494;24026882;24061540;24084649;24103590;24128730;24270048;24301457;24301797;24302991;24321786;24337384;24360988;24366338;24390342;24399296;24434549;24442433;24456201;24464131;24578159;24586659;24610907;24662294;24722188;24735611;24777252;24816145;25061874;8837778;8889548;9020361;9162092;9252186;9275204;9374458;9384571;9432981;9500555;9575168;9642260;9685412;9718306;9744859;9774460;9774977;9852070;9915784;9928991;9990007 7189 Q9Y4K3 ABBA01060846;ABBA01060847;AC009656;AC061999;AK128396;AK292978;AMYH02024607;AY228337;BC031052;BI463192;BQ187062;CH471064;DA855021;NM_004620;NM_145803;U78798 AAB38751;AAH31052;AAO38054;ABM82135;ABM85318;BAF85667;EAW68119;EAW68120;EAW68121;EAW68122;NP_004611;NP_665802;Q9Y4K3 Hs.444172;Hs.591983 1674944;1798294;1847768;5117897 GDB:631813;TRAF6_2442;WI-17696;WI-21989 MGC:3310;RNF85 E3 ubiquitin-protein ligase TRAF6;OTTHUMP00000232772;OTTHUMP00000232773;RING finger protein 85;TNF receptor-associated factor 6;interleukin-1 signal transducer APPROVED protein-coding HGNC:12036 03833 602355 REVIEWED 1354201 TRAJ14 T cell receptor alpha joining 14 28741 M94081 HGNC:12042 1350739 TRAJ15 T cell receptor alpha joining 15 28740 X05775 HGNC:12043 1346371 TRAJ16 T cell receptor alpha joining 16 28739 M94081 HGNC:12044 1604273 TRAF7 TNF receptor-associated factor 7, E3 ubiquitin protein ligase Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004] 16 16 16 p13.3 2420218 2442550 + 2205763 2228130 + 2155766 2178129 + 6480464 11230166;12477932;14702039;14743216;15001576;15489334;16230348;18029348;19549727;20201926;21139048;21518757;21890473;21903422;21906983;21963094;22105767;22219201;23000965;23128672;23348505;23404370 84231 B3KQY7;H3BR17;H3BUP4;Q6Q0C0 ABBA01030271;AC009065;AK090624;AL136921;AMYH02031245;AW245178;AY569455;BC024267;CH471112;NM_032271;XM_005255627 AAS68363;BAG52199;CAB66855;EAW85546;EAW85547;EAW85548;EAW85549;NP_115647;Q6Q0C0;XP_005255684 Hs.713632 1850494;2142045;2146419;5124603 RH71168;RH93955;SGC31214;SHGC-61344 DKFZp586I021;MGC7807;RFWD1;RNF119 E3 ubiquitin-protein ligase TRAF7;OTTHUMP00000159043;RING finger and WD repeat-containing protein 1;RING finger protein 119;ring finger and WD repeat domain 1 APPROVED protein-coding ENSG00000131653 HGNC:20456 06977 606692 VALIDATED 1343115 TRAJ17 T cell receptor alpha joining 17 28738 X05773 1299943;1342230;1644978;1647900;1650608;1675165;1675167;1682437;1694764;1741999;1742651;1742653;1742655;1742669;1742851;1745803;1761273;1761551;1775697;1783032;1783122;1783126;1787696;1851546;1851860;2131541;2139010;2146178;2187763;7185537 D14S1186;D14S1325;D14S283;D14S50;D14S920;G17820;G35434;G42940;G43587;G69448;GDB:188625;GDB:198183;GDB:198184;GDB:198186;GDB:198197;GDB:210884;GDB:642137;RH11070;RH18088;RH70855;RH93874;SHGC-143450;SHGC-145279;SHGC-145547;SHGC-171777;SHGC-171779;SHGC-171842;STS-X61072;humtcajc HGNC:12045 1350626 TRAJ18 T cell receptor alpha joining 18 28737 M94081 HGNC:12046 1347224 TRAJ19 T cell receptor alpha joining 19 28736 M94081 HGNC:12047 1349316 TRAJ2 T cell receptor alpha joining 2 28753 X02884 1644978 humtcajc HGNC:12048 1350798 TRAJ20 T cell receptor alpha joining 20 28735 M94081 HGNC:12049 1601884 TRAIP TRAF interacting protein This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 49831372 49859800 - 49866028 49893992 - 49828595 49856559 - 6480464 12477932;14676304;15489334;17207965;17474147;17544371;18029348;18200509;19151749;19549727;19690564;20307617;21068752;21832049;21906983;21963094;22145905;22493164;22945920;23105109;24553286;8125298;9104814;9671805 10293 E7EN91;E7ETV1;E7EVC4;E7EW89;Q9BWF2 AB451320;AB451449;ABBA01024571;ABBA01024572;AC139451;AK225873;AK292172;AK295780;AMYH02006759;AMYH02006760;BC000310;BC019283;BQ446539;BX473682;CH471055;EF036504;NM_005879;U77845 AAB52993;AAH00310;AAH19283;ABO65090;ADQ32655;BAF84861;BAG58603;BAG70134;BAG70263;EAW65025;EAW65026;NP_005870;Q9BWF2 Hs.517972 1665869;1672186;1747829;1784710;2172395 G65744;RH11809;SHGC-149851;WI-13434;WI-15318 RNF206;TRIP E3 ubiquitin-protein ligase TRAIP;OTTHUMP00000212706;OTTHUMP00000212709;TRAF-interacting protein;ring finger protein 206 APPROVED protein-coding ENSG00000183763 HGNC:30764 05811 605958 REVIEWED 1345769 TRAJ21 T cell receptor alpha joining 21 28734 M94081 HGNC:12050 1345240 TRAJ22 T cell receptor alpha joining 22 28733 X02886 HGNC:12051 1353812 TRAJ23 T cell receptor alpha joining 23 28732 M94081 HGNC:12052 1350591 TRAJ24 T cell receptor alpha joining 24 28731 X02887 HGNC:12053 1346970 TRAJ25 T cell receptor alpha joining 25 28730 X02888 HGNC:12054 1351831 TRAJ26 T cell receptor alpha joining 26 28729 M94081 HGNC:12055 1349963 TRAJ27 T cell receptor alpha joining 27 28728 M94081 HGNC:12056 1344801 TRAJ29 T cell receptor alpha joining 29 28726 X02889 HGNC:12058 1346062 TRAJ3 T cell receptor alpha joining 3 28752 X02884 1644978 humtcajc HGNC:12059 1348080 TRAJ28 T cell receptor alpha joining 28 28727 M94081 HGNC:12057 1352053 TRAJ30 T cell receptor alpha joining 30 28725 M94081 HGNC:12060 1348703 TRAJ33 T cell receptor alpha joining 33 28722 M94081 HGNC:12063 1345584 TRAJ32 T cell receptor alpha joining 32 28723 M94081 HGNC:12062 1343758 TRAJ35 T cell receptor alpha joining 35 28720 M94081 HGNC:12065 1345027 TRAJ31 T cell receptor alpha joining 31 28724 M14905 1675165;1675167 G42940;STS-X61072 HGNC:12061 1347585 TRAJ37 T cell receptor alpha joining 37 28718 M94081 HGNC:12067 1344339 TRAJ36 T cell receptor alpha joining 36 28719 M94081 HGNC:12066 1352292 TRAJ34 T cell receptor alpha joining 34 28721 M35622 HGNC:12064 1350204 TRAJ41 T cell receptor alpha joining 41 28714 M94081 HGNC:12072 1347112 TRAJ4 T cell receptor alpha joining 4 28751 M94081 HGNC:12070 1342743 TRAJ38 T cell receptor alpha joining 38 28717 M94081 HGNC:12068 1347806 TRAJ39 T cell receptor alpha joining 39 28716 M94081 HGNC:12069 1354087 TRAJ43 T cell receptor alpha joining 43 28712 M94081 HGNC:12074 1349328 TRAJ44 T cell receptor alpha joining 44 28711 M35619 HGNC:12075 1342480 TRAJ42 T cell receptor alpha joining 42 28713 M94081 HGNC:12073 1353549 TRAJ40 T cell receptor alpha joining 40 28715 M35620 2187763 G69448 HGNC:12071 1348135 TRAJ48 T cell receptor alpha joining 48 28707 M94081 HGNC:12079 1345906 TRAJ45 T cell receptor alpha joining 45 28710 M94081 HGNC:12076 1343104 TRAJ47 T cell receptor alpha joining 47 28708 M94081 HGNC:12078 1351464 TRAJ49 T cell receptor alpha joining 49 28706 M94081 HGNC:12080 1354097 TRAJ46 T cell receptor alpha joining 46 28709 M94081 HGNC:12077 1352953 TRAJ5 T cell receptor alpha joining 5 28750 M94081 HGNC:12081 1348307 TRAJ50 T cell receptor alpha joining 50 28705 M94081 HGNC:12082 1350914 TRAJ51 T cell receptor alpha joining 51 (pseudogene) 14 14 14 q11 2819120 2819182 + 22956171 22956233 + 22487183 22487245 + 8188290 28704 ABBA01061278;AC244502;AE000521;M94081;NG_001332 APPROVED pseudo HGNC:12083 VALIDATED 1345879 TRAJ54 T cell receptor alpha joining 54 28701 M94081 HGNC:12086 1354445 TRAJ52 T cell receptor alpha joining 52 28703 M94081 1851860 G17820 HGNC:12084 1344737 TRAJ53 T cell receptor alpha joining 53 28702 M94081 HGNC:12085 1352793 TRAJ56 T cell receptor alpha joining 56 28699 M94081 HGNC:12088 1351793 TRAJ58 T cell receptor alpha joining 58 28697 M94081 HGNC:12090 1348545 TRAJ55 T cell receptor alpha joining 55 (pseudogene) 14 14 14 q11 2813634 2813690 + 22950686 22950742 + 22481697 22481753 + 8188290 28700 ABBA01061278;AC244502;AE000521;M94081;NG_001332 APPROVED pseudo HGNC:12087 VALIDATED 1348130 TRAJ59 T cell receptor alpha joining 59 28696 M94081 HGNC:12091 1343823 TRAJ57 T cell receptor alpha joining 57 28698 M94081 HGNC:12089 1354023 TRAJ6 T cell receptor alpha joining 6 28749 M16747 HGNC:12092 1344196 TRAJ60 T cell receptor alpha joining 60 (pseudogene) 14 14 14 q11 2808243 2808299 + 22945296 22945352 + 22476306 22476362 + 8188290 28695 ABBA01061278;AC244502;AE000521;M94081;NG_001332 APPROVED pseudo HGNC:12093 VALIDATED 1350043 TRAJ7 T cell receptor alpha joining 7 28748 M94081 HGNC:12095 1347382 TRAJ61 T cell receptor alpha joining 61 28694 M94081 HGNC:12094 1346530 TRAJ8 T cell receptor alpha joining 8 28747 M94081 HGNC:12096 1343301 TRAJ9 T cell receptor alpha joining 9 28746 M94081 HGNC:12097 1352646 TRAK2 trafficking protein, kinesin binding 2 ENCODES a protein that exhibits receptor binding (ortholog); INVOLVED IN protein O-linked glycosylation (inferred); protein targeting (inferred); regulation of transcription from RNA polymerase II promoter (inferred); FOUND IN cytoplasm (ortholog); mitochondrion (ortholog); plasma membrane (ortholog); INTERACTS WITH 17beta-estradiol; 4-hydroxyphenyl retinamide; afimoxifene 2 2 2 q33 195993770 196068264 - 202241930 202316319 - 201377207 201451596 - 1580863;6480464 10964520;11161814;12034717;12107410;12435728;12477932;14702039;15489334;15644324;16344560;16380713;16630562;16835241;16895905;19103291;19322201;19913121;20230862;20628086;23395375;9628581 66008 O60296;Q53RS6 AB011121;AB038951;AB038964;ABBA01062539;AC007256;AC007282;AC080069;AK054763;AK314384;AL832573;AMYH02005549;BC017999;BC040668;BC041330;BC048093;CA396280;CH471063;DA314514;DA414989;DA575492;NM_015049;XM_006712714 AAH17999;AAH40668;AAH41330;AAH48093;AAX93196;AAY24227;ACE86977;ACE87666;ADZ15617;BAA25475;BAB32501;BAB32550;BAB70803;CAD89935;EAW70271;EAW70272;NP_055864;O60296;XP_006712777 Hs.152774 1644579;1645559;1685353;1728851;1734904;1734950;2154240;2154242;2166077;2172463 A005S03;D2S1622E;D2S1678E;D2S1706E;D2S1985;G20458;G54455;RH91268;SGC31954;SHGC-37476 ALS2CR3;CALS-C;GRIF-1;GRIF1;KIAA0549;MILT2;OIP98 O-linked N-acetylglucosamine transferase interacting protein 98;OTTHUMP00000163722;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein;gamma-aminobutyric acid(A) receptor-interacting factor;milton homolog 2;trafficking kinesin-binding protein 2 protein-coding ENSG00000115993 HGNC:13206 09547 607334 VALIDATED 1346981 TRAM1 translocation associated membrane protein 1 This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory proteins across the endoplasmic reticulum membrane by regulating which domains of the nascent polypeptide chain are visible to the cytosol during a translocational pause. [provided by RefSeq, Oct 2009] 8 8 8 q13.3 67483078 67518322 - 71485453 71520694 - 70573218 70608459 - 1580863;6480464;6907045;8554872 11014206;12477932;12612084;12721283;1315419;1315422;15489334;16565220;17081983;18555783;19121997;19322201;19423540;20331378;20406964;20438785;20588308;21103663;21139048;21832049;21890473;21906983;23247143;24250222;24816145;9512475 23471 E5RFP8;G3XAN4;Q15629;Q6FHL3 AA740941;ABBA01041941;AC022731;AC120194;AF130055;AF274933;AK289397;AK292777;AK303411;AMYH02018176;AMYH02018177;AMYH02018178;BC000687;BC020283;BC032018;BC037738;BI465346;BT007359;CH471068;CR541654;CR541739;DB448315;NM_014294;X63679 AAG35483;AAH00687;AAH37738;AAP36023;ABM83614;ABM86858;BAF82086;BAF85466;BAG64464;CAA45218;CAG46455;CAG46539;EAW86966;EAW86967;EAW86968;NP_055109;Q15629 Hs.491988 1725745;2124412;2163050;2183743;5021435 G62123;RH48759;SHGC-2593;SHGC-58238;STS-N52135 PNAS-8;PNAS8;PRO1292;TRAM;TRAMP OTTHUMP00000226687;OTTHUMP00000226688;translocating chain-associated membrane protein 1;translocating chain-associating membrane protein;translocation-associating membrane protein 1 APPROVED protein-coding ENSG00000067167 HGNC:20568 05545 605190 REVIEWED 1314990 TRAM1L1 translocation associated membrane protein 1-like 1 INVOLVED IN protein transport (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; quercetin 4 4 4 q26 115296907 115298933 - 118004710 118006736 - 117083554 117085580 - 737633;1580863;6480464 12477932 14749390;16303743;16344560;19553259;20332099;22589738;23897914;24250222 133022 Q8N609 ABBA01063865;AC093805;AK074617;AMYH02009977;BC030831;BX423039;CA415689;CH471057;DB099839;NM_152402 AAH30831;BAC11091;EAX06312;NP_689615;Q8N609 Hs.570737 2125983 RH65481 MGC26568 OTTHUMP00000163898;translocating chain-associated membrane protein 1-like 1 protein-coding ENSG00000174599 HGNC:28371 11643 VALIDATED 1604830 TRAK1 trafficking protein, kinesin binding 1 ENCODES a protein that exhibits GABA receptor binding (inferred); INVOLVED IN endosome to lysosome transport; protein O-linked glycosylation (ortholog); protein targeting (ortholog); FOUND IN cytoplasm; early endosome; mitochondrion; INTERACTS WITH cobalt dichloride; formaldehyde; methyl methanesulfonate 3 3 3 p22.1 42072033 42206607 + 42055294 42267382 + 42013802 42225890 + 6480464 10470851;11076863;11230166;12435728;12477932;12724313;14702039;15231748;15489334;15489336;15644324;15851553;16344560;16380713;16381901;16630562;17043677;18675823;18986759;19135897;19528298;20230862;20379614;21573901;21822266;22094256;22589738;23395375;24092329;24995978;8889549 22906 B7Z218;B7ZAE5;C9JC32;F8WDH2;H7C3T3;Q9UPV9 AA534633;AB028965;ABBA01024771;ABBA01024772;ABBA01024773;AC018358;AC093414;AC137935;AK000754;AK023962;AK294221;AK295480;AK295848;AK316260;AL713787;AMYH02006621;AMYH02006622;AMYH02006623;AMYH02006624;AW157246;BC015922;BF527591;BG285410;BX647199;CD722736;CH471055;DA193280;H05058;NM_001042646;NM_001265608;NM_001265609;NM_001265610;NM_014965;XM_005264956;XM_005264957;XM_005264958;XM_005264959;XM_005264960;XM_005264962;XM_005264963;XM_005264964;XM_006713028;XM_006713029;XM_006713030;XM_006713031 AAH15922;ABZ92518;BAA82994;BAH11704;BAH12083;BAH12201;BAH14631;CAH56169;CAH56394;CAL37451;CAL38473;EAW64638;EAW64639;EAW64640;EAW64641;EAW64642;NP_001036111;NP_001252537;NP_001252538;NP_001252539;NP_055780;Q9UPV9;XP_005265013;XP_005265014;XP_005265015;XP_005265016;XP_005265017;XP_005265019;XP_005265020;XP_005265021;XP_006713091;XP_006713092;XP_006713093;XP_006713094 Hs.535711 1338635;1669406;1672074;1687233;1761765;2109597;2166290;2181638;2181745;5096423 D3S3393;D3S3563;D3S3827;OIP106_9283;RH12755;RH91106;SHGC-145728;SHGC-53801;SHGC-76856;WI-15128 MILT1;OIP106 106 kDa O-GlcNAc transferase-interacting protein;O-linked N-acetylglucosamine transferase interacting protein 106;OGT(O Glc NAc transferase) interacting protein 106 KDa;OGT(O-Glc-NAc transferase)-interacting protein 106 KDa;OTTHUMP00000162606;OTTHUMP00000197001;OTTHUMP00000209370;OTTHUMP00000209384;milton homolog 1;trafficking kinesin-binding protein 1 protein-coding ENSG00000182606 HGNC:29947 09732 608112 VALIDATED 1345669 TRAM2 translocation associated membrane protein 2 TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004] 6 6 6 p21.1-p12 54023355 54102971 - 52362200 52441862 - 52497402 52577064 - 1580863;6480464 10594243;12477932;14574404;14612417;14749390;15489334;16344560;16751776;19240061;19322201;20379614;21697133;7584044;7698749;8889549;9631292 9697 Q15035 AA044636;AB621814;ABBA01050553;ABBA01050554;ABBA01050555;AK291751;AK311560;AL049611;AMYH02013733;AMYH02013734;AU140711;BC016804;BC028121;BG323472;BG821383;CF264873;CH471081;CK000467;D31077;D31762;H59725;NM_012288 AAH28121;ABM81994;ABM85176;BAA06540;BAF84440;BAK64150;EAX04373;EAX04374;EAX04375;NP_036420;Q15035 Hs.520182 1664429;1680317;1685159;1694184;1707322;1712625;1725807;1735614;1794662;1848734;1858323;2135089;2138527;2138614;2139323;2173595;5037552 AL035185;D6S1218E;D8S2279;G29821;G61990;PMC344171P2;RH120163;RH1520;RH16461;RH25291;RH37396;RH69542;RH75334;SHGC-34262;SHGC-37721;SHGC-79269;STS-H72851 KIAA0057 OTTHUMP00000016607;TRAM-like protein;translocating chain-associated membrane protein 2 APPROVED protein-coding ENSG00000065308 HGNC:16855 16338 608485 REVIEWED 1346837 TRAP1 TNF receptor-associated protein 1 This gene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in regulating cellular stress responses. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 16 16 16 p13.3 3914746 3974292 - 3708038 3767598 - 3658037 3717597 - 1580863;6480464 10545594;10652318;11278302;12234937;12477932;14702039;15292218;15489334;15852347;16196087;16269234;16482509;16551573;16927372;17203973;17579517;17853063;18091755;18221368;18287101;18781797;18790094;18815895;19019082;19217207;19490362;19738201;19913121;19946888;19948822;20000738;20360068;20391533;20471161;20499060;20628086;20647321;20877624;21081666;21139048;21145461;21252943;21338643;21381076;21832049;21853274;21875946;21878357;21890473;21979464;21988832;22145905;22178446;22268729;22319455;22863883;22904065;22939629;22978347;23139614;23273922;23284813;23319000;23364796;23443559;23455922;23525905;23747254;23842546;24113185;24297638;24583282;24754231;24816145;25027693;7876093;8125298;8756626;9312071;9545258 10131 I3L0K7;I3L0P6;I3L239;I3L253;I3L2D5;I3L3L4;I3L4L7;Q12931;Q53FS6 AB209805;ABBA01026745;ABBA01026746;ABBA01026747;ABBA01026748;ABBA01026749;AC005203;AC006111;AF043254;AF154108;AJ890085;AK057620;AK093344;AK223049;AK223076;AK223205;AK299127;AMYH02031296;AMYH02031297;BC000406;BC001455;BC002994;BC018950;BC023585;CH471112;DB452880;JX481354;NG_033088;NM_001272049;NM_016292;U12595 AAA87704;AAC02679;AAC24722;AAF15314;AAH01455;AAH18950;AAH23585;ABM84402;ABM87345;AFS69159;BAC04139;BAD93042;BAD96769;BAD96796;BAD96925;BAG51942;BAG61180;CAI64498;EAW85338;EAW85339;EAW85340;EAW85341;EAW85342;NP_001258978;NP_057376;Q12931 Hs.30345 1341614;1688702;1699416;1738867;1745581;1791111;1791113;2177710;5111028;5126235 D16S2622;D16S2907;D16S2942;GDB:624544;RH103299;RH45732;RH68351;SHGC-60637;csnpdnase1-pcr7-1;csnpdnase1-pcr8-1 HSP 75;HSP75;HSP90L;TRAP-1 OTTHUMP00000159796;TNFR-associated protein 1;heat shock protein 75 kDa, mitochondrial;tumor necrosis factor type 1 receptor associated protein;tumor necrosis factor type 1 receptor-associated protein APPROVED protein-coding ENSG00000126602 HGNC:16264 05868 606219 REVIEWED 1322784 TRAPPC1 trafficking protein particle complex 1 This gene product plays a role in vesicular transport of proteins to the Golgi apparatus from the endoplasmic reticulum. The encoded protein is a component of the multisubunit transport protein particle (TRAPP) complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 17 17 17 p13.1 7861377 7863031 - 7833663 7835317 - 7930345 7931999 - 1580863;6480464 10582700;11805826;12477932;15489334;15749823;16341674;16828797;18187620;21525244;21890473;21906983;23000965;24250222;24654937;8889548 58485 I3L1R8;I3L3S0;I3L3V5;Q9Y5R8 ABBA01054890;AC104581;AF129332;AK314038;AMYH02032918;AW964727;BC025413;BC032717;BI457771;BI600633;BM762006;BU687854;BU940685;CH471108;NG_029754;NM_001166621;NM_021210;NR_030684;NR_030697 AAD44697;AAH32717;ABM81786;ABM84941;BAG36747;EAW90109;EAW90110;EAW90111;NP_001160093;NP_067033;Q9Y5R8 Hs.24379 1856326;2189419;2189447;5021706 MARC_5489-5490:991939649:1;MARC_6307-6308:992007230:1;WI-18598;ksks299 BET5;MUM-2;MUM2 BET5 homolog;OTTHUMP00000135311;melanoma ubiquitous mutated 2;multiple myeloma protein 2;trafficking protein particle complex subunit 1 APPROVED protein-coding ENSG00000170043 HGNC:19894 18219 610969 REVIEWED 5686922 TRAPPC12-AS1 TRAPPC12 antisense RNA 1 p25.3 100861515 AC114810;BG683264 Hs.632518 APPROVED ncrna HGNC:41046 1343529 TRAPPC12 trafficking protein particle complex 12 INVOLVED IN vesicle-mediated transport (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; paracetamol 2 2 2 p25.3 3434749 3536856 + 3383446 3483342 + 3379675 3479571 + 737633;1580863;6480464 12477932 10810093;14702039;15489334;19460752;20379614;20562859;21525244;21890473;22505724;23251661;24250222;24816145 51112 F8WCB4;H0Y550;H7C0K3;H7C0T3;H7C185;H7C1E5;H7C1M4;H7C2F7;H7C373;Q8N9N0;Q8WVT3 ABBA01013722;ABBA01013723;AC073502;AC114810;AC216281;AF151845;AK094181;AK094242;AK098327;AK125105;AK126524;AMYH02003192;BC014164;BC017475;BQ954367;BU782660;CH471053;NM_016030;XM_005264693;XM_006711887;XR_426956 AAD34082;AAH14164;AAH17475;AAY24021;AAY24194;BAC04301;BAG52848;BAG53613;EAX01067;EAX01068;EAX01069;NP_057114;Q8WVT3;XP_005264750;XP_006711950 Hs.252713 1337470;1687800;1725629;1734256;2109999;2120450;7186185 D2S1503E;D2S319;G62096;RH65207;RH92776;TTC15_9666 CGI-87;FLJ36862;FLJ44560;TTC-15;TTC15 OTTHUMP00000115379;OTTHUMP00000115380;OTTHUMP00000199991;TPR repeat protein 15;tetratricopeptide repeat domain 15;tetratricopeptide repeat protein 15;trafficking protein particle complex subunit 12 APPROVED protein-coding ENSG00000171853 HGNC:24284 15580 614139 VALIDATED 7245816 TRAM2-AS1 TRAM2 antisense RNA 1 (head to head) 6 6 6 p12.3 54103002 54109901 + 52442000 52448791 + 52577202 52583993 + 14702039 401264 AA730121;ABBA01050553;AK095117;AL049611;AMYH02013734;BE741421;CX787946;DB479639;HG499269;HG499270;HG499271;HG499272;NR_103446;NR_103447 Hs.544586 1651448;1735614 D6S1218E;SHGC-53728 RP1-180E22.3 ncrna ENSG00000225791 HGNC:48663 VALIDATED 8552500 TRAPPC13P1 trafficking protein particle complex 13 pseudogene 1 X X X q13.3 76155647 76156877 - 75875906 75877136 - 76655505 76656735 - 11181995 646193 ABBA01059311;AC239601;AMYH02039802;CH471104;NG_022906;Z98255 EAW98618;EAW98619 pseudo HGNC:50347 INFERRED 1605046 TRAPPC13 trafficking protein particle complex 13 INTERACTS WITH atrazine; copper(2+) sulfate; formaldehyde 5 5 5 q12.3 61919011 61960412 + 64920558 64961954 + 65624731 65666127 + 6480464 12477932;14702039;15489334;16344560;21139048;21453443;21890473;21906983;22505724;24250222;8889548 80006 A5PLN9;D6RB83;H0YBF8 ABBA01048328;ABBA01048329;AC008560;AK023673;AK130467;AL713699;AMYH02011428;AMYH02011429;AMYH02011430;BC012006;BC047475;BC117128;BC142994;BC143691;BC143693;BE222610;BM664695;BX641157;CD105043;CH471137;DA903408;DB145758;DQ088673;N67829;NM_001093755;NM_001093756;NM_001243737;NM_024941;NR_003545 A5PLN9;AAH47475;AAI17129;AAI42995;AAI43692;AAI43694;AAY88966;BAB14633;BAC85360;CAD28498;CAE46070;EAW51343;EAW51344;EAW51345;EAW51346;EAW51347;EAW51348;NP_001087224;NP_001087225;NP_001230666;NP_079217 Hs.591760 1646543;1666933;1675371;1700074;1849642;1853500;1857243;5022200;5022578 D1S1423;L18426;RH103650;RH69234;RH69897;RH80948;SHGC-57573;STS-N23147;STS-R61558 C5orf44;FLJ13611;FLJ26957;MGC48585 OTTHUMP00000222554;OTTHUMP00000222555;OTTHUMP00000222556;OTTHUMP00000222557;OTTHUMP00000222558;Trs65-related;UPF0533 protein C5orf44;hypothetical protein LOC80006;trafficking protein particle complex subunit 13 APPROVED protein-coding ENSG00000113597 HGNC:25828 07832 VALIDATED 1604619 TRAPPC2L trafficking protein particle complex 2-like INVOLVED IN ER to Golgi vesicle-mediated transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; potassium chromate 16 16 16 q24.3 73992097 73996111 + 88923465 88929086 + 88857057 88862678 + 6480464;8554872 11042152;12477932;16189514;16344560;18029348;19416478;21453443;21525244;21832049;21890473;21906983;23000965;23824909 51693 H3BP13;H3BPE0;H3BPN3;H3BPS1;H3BQQ8;H3BUK6;Q9UL33 ABBA01013588;AC092384;AF089106;AF161524;AK126779;AK307253;AK310805;AK311885;AMYH02032648;AX771012;AX771013;AX771014;BC011369;BC017440;BC018024;BC105809;CH471184;DA293122;NG_008667;NM_016209;XM_005256313 AAF00568;AAF29139;AAH11369;AAH18024;AAI05810;BAC86686;BAG34826;CAE01175;CAE01176;CAE01177;EAW66756;NP_057293;Q9UL33;XP_005256370 Hs.461722 1698332;1744753;1847445 GDB:556702;RH102707;STS-AA035228 FLJ44827;HSPC176;MGC111156 OTTHUMP00000175192;hematopoietic stem/progenitor cells 176;trafficking protein particle complex subunit 2-like protein protein-coding ENSG00000167515 HGNC:30887 13711 610970 VALIDATED 1322626 TRAPPC10 trafficking protein particle complex 10 The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30537856 30632073 + 45432206 45526433 + 44012325 44106552 + 1580863;6480464;8554872 10830953;11805826;12477932;14702039;15302935;15489334;17207965;20301702;20424473;21525244;22939629;23022380;24255178;7633421;8753807;8889548;9196060;9205129;9370297 7109 F8WE24;P48553 AB001517;AB001523;ABBA01074151;ABBA01074152;AK095010;AK295369;AK300912;AK303570;AL559301;AL833668;AMYH02037904;AMYH02037905;AMYH02037906;BC046241;BC052247;BC071569;BC094823;BC101728;BF979287;BG058078;BM988257;BU733895;BX370317;CH471079;KC877908;KC877911;KF495783;KF495822;NG_008658;NM_003274;U19252;U61500;U61520;XM_005261168;XM_005261169;XM_006724046;XM_006724047 AAB58468;AAC50134;AAC51826;AAH46241;AAH52247;AAH94823;AAI01729;ADQ32048;BAA21099;BAA21136;BAG58329;BAG62546;BAG64591;CAI46146;EAX09459;NP_003265;P48553;XP_005261225;XP_005261226;XP_006724109;XP_006724110 Hs.126221 EHOC-1;EHOC1;FLJ54223;FLJ54817;FLJ55683;GT334;MGC126777;TMEM1;TRS130;TRS30 OTTHUMP00000109489;TRAPP 130 kDa subunit;TRAPP subunit TMEM1;epilepsy holoprosencephaly candidate 1 protein;epilepsy holoprosencephaly candidate-1 protein;trafficking protein particle complex subunit 10;trafficking protein particle complex subunit 130;trafficking protein particle complex subunit TMEM1;transmembrane protein 1;transport protein particle subunit TMEM1 APPROVED protein-coding ENSG00000160218 HGNC:11868 03656 602103 REVIEWED 3207731 TRAPPC2P10 trafficking protein particle complex 2 pseudogene 10 Y Y Y q11.223 10182596 10190362 - 26109178 26116944 - 23963031 23970797 - 414752 AC073893;NG_004755 2188909;5116370 G65968;sY2929 TRAPPC2P5B pseudo HGNC:37732 VALIDATED 1351912 TRAPPC2P1 trafficking protein particle complex 2 pseudogene 1 This gene has been described as a transcribed retropseudogene (or retro-xaptonuon) based on its structure which lacks most of the introns of SEDL and the detection of transcripts from this locus. Most retropseudogenes are thought to not express protein products. A protein product could potentially be encoded by this retropseudogene that would be identical to the protein product of the SEDL gene. However, it remains unclear whether this gene encodes a protein product or is a transcribed retropseudogene. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 54918588 54920430 + 57874879 57876721 + 57363511 57365353 + 6480464 10431248;11031107;11134351;11181995;11805826;12477932;12700240;12935876;12939648;14597397;16189514 10597 ABBA01020812;AC003002;AF058918;AF291676;AMYH02036513;BC008889;BC032809;BF984818;BU556832;CH471135;CR456859;NR_002166 AAC14421;CAG33140;EAW72495;EAW72496;P0DI82 Hs.446620 1858448 RH18335 MIP-2A;SEDLP;SEDLP1 APPROVED pseudo ENSG00000256060 HGNC:10710 PROVISIONAL 1347454 TRAPPC2P2 trafficking protein particle complex 2 pseudogene 2 8 8 8 q13.3 68357983 68358512 - 72360946 72361475 - 71448711 71449240 - 11031107 27196 ABBA01041946;AC099805;AMYH02018188;NG_005354 SEDLP2 pseudo HGNC:10711 INFERRED 1350228 TRAPPC2 trafficking protein particle complex 2 The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] X X X p22 17847442 17869835 - 13730361 13752754 - 13712242 13734635 - 6480464;7240710;8699517;8554872 10431248;11031107;11134351;11252002;11349230;11424925;11595175;11805826;12030902;12123495;12477932;12579492;12650905;12681486;12919139;12939648;14597397;14702039;15146197;15221797;15300622;15489334;15772651;15952107;16344560;18247296;18393234;19002213;19322201;19417549;19615732;19766614;20108251;20301324;20498720;21525244;21827752;21858081;21890473;23019651;23800666;23876379;8401585;8733060;8889548 6399 E5RFG0;F5H785;P0DI81;P0DI82;Q6IBE5 AA351319;AA770629;ABBA01071129;ABBA01071130;ABBA01071131;ABBA01071132;AC003037;AF157060;AF157061;AF157062;AF157063;AF157064;AF157065;AK055671;AK098253;AK310542;AK313736;AMYH02038897;AV763683;BC016915;BC052618;BG033605;BI821518;BM931610;BX112362;CB962763;CD698535;CH471074;CN430081;DA344866;DA350753;DA542477;NG_011555;NM_001011658;NM_001128835;NM_014563 AAD49845;AAH16915;AAH52618;ABM82434;ABM85624;ABM85625;ACE86743;ACE87429;BAG36477;EAW98829;EAW98830;EAW98831;EAW98832;EAW98833;EAW98834;NP_001011658;NP_001122307;NP_055378;P0DI81 Hs.592238;Hs.622292 1653859;1659245;1681766;5015879;5020948;5022200;5022578;5037552;5118444;5118576 D11S3316;D11S3430;D1S1423;D8S2279;DXS7729;G35510;GDB:314949;L18426;RH65861;RH70767 MIP-2A;MIP2A;SEDL;SEDT;TRAPPC2P1;TRS20;ZNF547L;hYP38334 MBP-1 interacting protein-2A;MBP-1-interacting protein 2A;OTTHUMP00000022938;OTTHUMP00000225889;OTTHUMP00000225890;OTTHUMP00000225892;sedlin;trafficking protein particle complex subunit 2 APPROVED protein-coding ENSG00000196459 HGNC:23068 02189 300202;313400 REVIEWED 1349223 TRAPPC2P3 trafficking protein particle complex 2 pseudogene 3 Y Y q11.23 19908065 19912698 - 17796185 17800818 - 11031107;9847074 27195 AC007742;NG_004636 2188607 G66349 SEDLP3 pseudo HGNC:10712 VALIDATED 1352504 TRAPPC2P4 trafficking protein particle complex 2 pseudogene 4 Y Y Y q11.23 9974470 9985285 - 28050544 28061359 + 25904397 25915212 + 11031107;9847074 27194 AC007965;NG_004755 SEDLP4 pseudo HGNC:10713 VALIDATED 1343827 TRAPPC2P5 trafficking protein particle complex 2 pseudogene 5 Y Y Y q11.23 10182596 10190362 - 27845476 27853242 + 25699329 25707095 + 11031107;9847074 27193 AC010682;NG_004755 2188909;5116370 G65968;sY2929 SEDLP5 pseudo HGNC:10714 VALIDATED 1601872 TRAPPC2P7 trafficking protein particle complex 2 pseudogene 7 Y Y q11.23 20815942 20818063 - 18654056 18656177 - 11031107;9847074 392597 AC022486;AC084354;NG_004636 2181405 SHGC-13965 SEDLP7 pseudo HGNC:10716 VALIDATED 3207732 TRAPPC2P8 trafficking protein particle complex 2 pseudogene 8 Y Y q11.221 20267078 20271711 + 18105192 18109825 + 9847074 414751 AC024183;NG_004636 2188607 G66349 TRAPPC2P3B pseudo HGNC:37731 VALIDATED 3207730 TRAPPC2P9 trafficking protein particle complex 2 pseudogene 9 Y Y Y q11.223 9974470 9985285 - 25901017 25911832 - 23754870 23765685 - 414753 AC016752;NG_004755 TRAPPC2P4B pseudo HGNC:37733 VALIDATED 1342888 TRAPPC3L trafficking protein particle complex 3-like INVOLVED IN vesicle-mediated transport (inferred); FOUND IN endoplasmic reticulum (inferred); Golgi apparatus (inferred) 6 6 6 q22.1 117560713 117609844 - 116817646 116866773 - 116496483 116545610 - 12477932;14574404;14702039;15489334;20379614;21525244 100128327 Q5T215 ABBA01026045;ABBA01026046;AI090359;AI745276;AK002042;AL121953;AL445224;AMYH02014353;AMYH02014354;BC127757;BC127758;BE501784;BX280366;DY655209;NM_001139444 AAI27758;AAI27759;NP_001132916;Q5T215 Hs.134795 1685057;2126919 RH94021;SHGC-54632 BET3L;FLJ11180;bA259P20.2 BET3-like protein;OTTHUMP00000017064;OTTHUMP00000040368;TRAPPC3-like protein;trafficking protein particle complex subunit 3-like protein APPROVED protein-coding ENSG00000173626 HGNC:21090 614137 VALIDATED 1604800 TRAPPC11 trafficking protein particle complex 11 The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013] 4 4 4 q35.1 181913550 181967765 + 184580420 184634747 + 183659267 183713594 + 6480464;8699517;7240710;8554872 11076863;11230166;12477932;14702039;15174051;15489336;16169070;16344560;16381901;19942856;20308539;20562859;21525244;21890473;22669257;22990118;23000965;23830518;24816145 60684 D6R9T9;D6RHE5;Q7Z392 ABBA01070506;AC108477;AI034264;AK022778;AK023390;AK026992;AK090489;AK091146;AK096345;AK315057;AL133076;AL136752;AL833451;AL833571;AMYH02010640;AMYH02010641;BC022185;BC040530;BC051724;BC139745;BX538044;BX647127;BX648499;CH471056;CR533553;DB096222;NG_033102;NM_021942;NM_199053 AAH51724;AAI39746;BAB14240;BAB14556;BAB15617;BAG37533;BAG52291;BAG53267;CAB66686;CAD91169;CAD97983;CAG38584;CAL38681;EAX04686;EAX04687;NP_068761;NP_951008;Q7Z392 Hs.443240 1656986;1667691;1684194;1699032;1853618;2179391;2179987 D20S722;RH103089;RH93417;SHGC-24812;SHGC-44350;SHGC-50562;SHGC-67766 C4orf41;FLJ12716;GRY;LGMD2S FOIGR;OTTHUMP00000218691;OTTHUMP00000218693;UPF0636 protein C4orf41;foie gras;foie gras homolog;gryzun homolog;hypothetical protein LOC60684;trafficking protein particle complex subunit 11 APPROVED protein-coding ENSG00000168538 HGNC:25751 10968 614138;615356 REVIEWED 1319308 TRAPPC3 trafficking protein particle complex 3 This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 1 1 1 p34.3 34876659 34889547 - 36602170 36621654 - 36136569 36156053 - 1580863;6480464 11805826;12477932;14702039;15489334;15608655;15692564;15728249;16189514;16262728;16828797;16880271;16908848;18029348;18930054;19738201;21139048;21453443;21482742;21525244;21832049;21890473;21906983;21963094;21988832;22505724;22990118;23000965;23956138;24250222;24255178;25015289;8619474;9110174;9564032 27095 A6NKE1;O43617 AA446176;ABBA01023312;AC114484;AF041432;AJ224335;AK094755;AK315610;AMYH02000777;AMYH02000778;AY007139;BC007662;BG704657;BI462429;BI762992;BM451581;CB053319;CD251784;CH471059;CQ834606;HY104588;NM_001270894;NM_001270895;NM_001270896;NM_001270897;NM_014408;NR_073097;NR_073098;T26006 AAB96936;AAG02000;AAH07662;BAG37979;CAA11902;CAH05518;EAX07385;EAX07386;EAX07387;NP_001257823;NP_001257824;NP_001257825;NP_001257826;NP_055223;O43617 Hs.523131 1689205;1770735 RH80455;SHGC-57691 BET3 1110058K12Rik;BET3 homolog;OTTHUMP00000009025;OTTHUMP00000009027;OTTHUMP00000009028;trafficking protein particle complex subunit 3 APPROVED protein-coding ENSG00000054116 HGNC:19942 11644 610955 REVIEWED 1344244 TRAPPC5 trafficking protein particle complex 5 INVOLVED IN vesicle-mediated transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); Golgi apparatus (inferred); TRAPP complex (inferred); INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.2 7616889 7618930 + 7745707 7747748 + 7680821 7682862 + 1580863;6480464;8554872 12477932;15489334;16341674;21139048;21163940;21525244;21890473;21906983;22505724;22939629;24250222;8889548 126003 M0QZQ8;Q8IUR0 ABBA01010892;AC008763;AK292001;AMYH02035405;BC022836;BC042161;BG528980;BI196928;BM841051;BU736689;CH471139;NM_001042461;NM_001042462;NM_174894 AAH42161;ADR82706;BAF84690;EAW69012;NP_001035926;NP_001035927;NP_777554;Q8IUR0 Hs.432413 2132952;2137157 RH41788;RH47627 MGC52424;TRS31 trafficking protein particle complex subunit 5 protein-coding ENSG00000181029 HGNC:23067 VALIDATED 1601965 TRAPPC6A trafficking protein particle complex 6A This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 19 19 19 q13.32 42470448 42485747 - 45666186 45681501 - 45162928 45178243 - 6480464 12477932;15057824;15146197;15489334;16189514;16262728;16697553;18930054;19197348;21482742;21525244;21766012;23088713 79090 B7TZ90;O75865 ABBA01040912;AC005757;AF161407;AMYH02036192;BC001907;BC004450;BI462720;CH471126;CN256686;CN256687;FJ418644;NG_033044;NM_001270891;NM_001270892;NM_001270893;NM_024108 AAC62259;AAF28967;AAH01907;AAH04450;ACJ50530;EAW57326;EAW57327;EAW57328;EAW57329;NP_001257820;NP_001257821;NP_001257822;NP_077013;O75865 Hs.466929 2118672;5113246 RH98840;STS-AA025567 HSPC289;MGC2650;TRS33 TRAPP complex subunit 6A;TRAPPC6Adelta29-42;trafficking protein particle complex subunit 6A APPROVED protein-coding ENSG00000007255 HGNC:23069 14503 610396 REVIEWED 1348300 TRAPPC4 trafficking protein particle complex 4 INVOLVED IN dendrite development (ortholog); PARTICIPATES IN syndecan signaling pathway; FOUND IN dendrite (ortholog); Golgi stack (ortholog); synapse (ortholog); INTERACTS WITH cobalt dichloride; copper(2+) sulfate; hydralazine 11 11 11 q23.3 116046377 116052437 + 118889241 118894384 + 119018531 119023674 + 1580863;6480464;6484113 10810093;11018053;11042152;11805826;12477932;15489334;16169070;17110339;18466758;20035503;21139048;21525244;21826244;21832049;21906983;21963094;21987572;21988832;22505724;23625650;24104608;8125298 51399 E9PKS9;E9PN70;E9PQE8;G3V1A0;G5EA23;J3KP27;Q9Y296 ABBA01039681;AF078862;AF105025;AF151862;AF161520;AK025623;AK290520;AK293914;AK293977;AK297422;AMYH02025659;AP003392;BC010866;CH471065;NM_016146 AAD34099;AAD44494;AAF21897;AAF29135;AAH10866;BAF83209;BAG57297;BAG57347;BAG59853;EAW67430;NP_057230;Q9Y296 Hs.132760 1655794;1731239;1768199;2149757;2171661;7184772 D11S456;D11S4686;RH70303;SHGC-33190;WI-20793 CGI-104;HSPC172;PTD009;SBDN;TRS23 OTTHUMP00000232701;OTTHUMP00000232702;OTTHUMP00000232704;OTTHUMP00000232705;OTTHUMP00000232706;SYNBINDIN;TRS23 homolog;hematopoietic stem/progenitor cell protein 172;trafficking protein particle complex subunit 4 protein-coding HGNC:19943 18220 610971 VALIDATED 1319611 TRAPPC6B trafficking protein particle complex 6B TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008] 14 14 14 q21.1 19481624 19504242 - 39617015 39639634 - 39147811 39170430 - 6480464 12477932;14702039;15489334;16025134;16697553;17207965;18930054;21139048;21525244;21890473;23000965 122553 G3V2H7;G3V4C3;Q86SZ2 ABBA01061549;AK025437;AK056690;AK294339;AK310730;AK315900;AL109628;AL132639;AL833179;AMYH02029050;BC030604;BC047328;BX161510;BX248013;CH471078;NM_001079537;NM_177452 AAH47328;ADQ32975;BAF98791;BAG51784;BAG57609;CAD61947;CAD62341;CAI46185;EAW65821;EAW65822;EAW65823;EAW65824;NP_001073005;NP_803235;Q86SZ2 Hs.13303 1757583;2116167;2121770;2169642;2170416;2176301;2183871 G35539;RH11234;RH44741;SGC44285;SHGC-145046;SHGC-44285;WI-15625 FLJ17772;FLJ79549;TPC6 OTTHUMP00000178904;OTTHUMP00000178905;OTTHUMP00000244309;trafficking protein particle complex subunit 6B APPROVED protein-coding ENSG00000182400 HGNC:23066 18221 610397 VALIDATED 1352017 TRAPPC7 trafficking protein particle complex 7 373174 HGNC:23070 1346606 TRAPPC8 trafficking protein particle complex 8 373175 1681024;1686698;1703594;2164816 RH39240;RH48001;SHGC-32604;SHGC-64753 HGNC:23071 614136 2937319 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 ENCODES a protein that exhibits ATP binding (inferred); hydrolase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; calcitriol; potassium chromate 3 3 3 p22.2 36811078 36929308 - 36868308 36986548 - 36826817 36945057 - 6480464;8554872 10737800;14702039;15146197;21282530;21926972;22182935;23092984;24280982;24654937;9205841 9881 B7WP88;O15050 AB002340;ABBA01024861;ABBA01024862;ABBA01024863;ABBA01024864;ABBA01024865;ABBA01024866;AC011816;AC097360;AC105749;AK096678;AMYH02006549;AMYH02006550;BG750754;BG960452;BQ024165;BX956692;CD698859;CN313593;CN482191;EG328357;EG328358;KF457622;KF457629;NM_014831;XM_006713432 BAA20800;BAC04838;NP_055646;O15050;XP_006713495 Hs.170999 1660517;1712286;1714053;1738923;2124115;2165466;2167037 D3S3189;D3S3430;D3S3436;D3S4036;G54052;RH119458;STS-AA026362 KIAA0342;LBA1 OTTHUMP00000222365;TPR and ankyrin repeat-containing protein 1;lupus brain antigen 1 homolog protein-coding ENSG00000168016 HGNC:29011 PROVISIONAL 1605926 TRAPPC9 trafficking protein particle complex 9 This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] 8 8 8 q24.3 136910795 137637626 - 140740324 141468678 - 139728081 140458579 - 6480464;7240710;8554872;8699517 11572484;12477932;14702039;15951441;16344560;19724895;19851296;20004763;20004765;20198315;20379614;20966969;21525244;21858081;21890473;21906983;22279557;22549410;22952603;22989526;23022380;23251661;24250222;24255178 83696 H0YBR0;Q96Q05 AA863329;AB067469;ABBA01013657;ABBA01013658;ABBA01013659;ABBA01013660;ABBA01013661;ABBA01013662;ABBA01013663;ABBA01013664;ABBA01013665;ABBA01013666;ABBA01013667;ABBA01013668;ABBA01013669;ABBA01013670;AC007869;AC021636;AC021744;AC040978;AC091022;AC104244;AC115836;AK026394;AK027689;AK128755;AK308815;AL833973;AMYH02018871;AMYH02018872;AMYH02018873;AMYH02018874;AMYH02018875;AMYH02018876;AMYH02018877;AMYH02018878;AMYH02018879;AMYH02018880;AY190606;AY630619;BC003650;BC006206;BC065288;BP394939;CH471060;DA228705;DA782470;KF458874;KF458876;KF458877;KF510304;KF510305;KF510307;NG_016478;NM_001160372;NM_031466;XM_005251077;XM_006716664 AAH03650;AAH06206;AAH65288;AAO38740;AAV31908;BAB55299;BAB67775;BAC87600;CAH56384;EAW92200;EAW92201;NP_001153844;NP_113654;Q96Q05;XP_005251134;XP_006716727 Hs.654911;Hs.733622 IBP;IKBKBBP;KIAA1882;MGC4737;MGC4769;MRT13;NIBP;T1;TRS120 IKK2 binding protein;NIK and IKK-beta binding protein;NIK- and IKBKB-binding protein;OTTHUMP00000226148;OTTHUMP00000226166;OTTHUMP00000226167;TRAPP 120 kDa subunit;trafficking protein particle complex subunit 9;tularik gene 1 protein APPROVED protein-coding ENSG00000167632 HGNC:30832 18136 611966;613192 REVIEWED 1353552 TRAV10 T cell receptor alpha variable 10 28676 AE000659 2129038 G36229 HGNC:12103 1345046 TRAV11 T cell receptor alpha variable 11 (pseudogene) 14 14 14 q11 2161270 2161801 + 22297692 22298223 + 21829539 21830070 + 8188290 28675 ABBA01061266;AC243980;AE000521;NG_001332 TCRAV11S1 APPROVED pseudo HGNC:12104 VALIDATED 1350032 TRAV1-1 T cell receptor alpha variable 1-1 28693 AE000658 HGNC:12101 1353370 TRAV1-2 T cell receptor alpha variable 1-2 28692 AE000658 HGNC:12102 1349893 TRAV12-1 T cell receptor alpha variable 12-1 28674 AE000659 HGNC:12105 1352006 TRAV12-2 T cell receptor alpha variable 12-2 ASSOCIATED WITH Melanoma (inferred) 8554872 28673 AE000659 1342230 D14S50 HGNC:12106 1319254 TRAPPC8 trafficking protein particle complex 8 INVOLVED IN vesicle-mediated transport (inferred); FOUND IN Golgi apparatus (inferred); INTERACTS WITH cobalt dichloride; coumestrol; elemental selenium 18 18 18 q12.1 26216177 26330128 - 29409136 29523175 - 31829173 31943212 - 1580863;6480464 10231032;10727015;11230166;11805826;12477932;14702039;15345747;16344560;18187620;20562859;21139048;21453443;21525244;21858081;21890473;21906983;22990118;24816145 22878 J3KSL8;J3QQJ5;J3QQS5;J3QR00;J3QSA1;Q9Y2L5 AA598869;AB023229;ABBA01022501;ABBA01022502;ABBA01022503;ABBA01022504;ABBA01022505;AC009831;AC022960;AK001662;AK292537;AL136749;AMYH02034513;AMYH02034514;AMYH02034515;BC059380;BC127109;BC127110;BX642999;CH471088;DA446379;KF456366;KF456370;NM_014939;XM_005258233;XM_005258234;XM_005258235;XM_006722420 AAH59380;AAI27110;AAI27111;BAA76856;BAF85226;BAG50957;CAB66683;EAX01271;EAX01272;EAX01273;EAX01274;EAX01275;EAX01276;NP_055754;Q9Y2L5;XP_005258290;XP_005258291;XP_005258292;XP_006722483 Hs.202001 GSG1;HsT2706;KIAA1012;MGC71660;TRS85 OTTHUMP00000163103;general sporulation gene 1 homolog;protein TRS85 homolog;trafficking protein particle complex subunit 8 APPROVED protein-coding ENSG00000153339 HGNC:29169 10019 614136 VALIDATED 1343077 TRAV12-3 T cell receptor alpha variable 12-3 28672 X06193 HGNC:12107 1350924 TRAV13-2 T cell receptor alpha variable 13-2 28670 AE000659 HGNC:12109 1348286 TRAV13-1 T cell receptor alpha variable 13-1 28671 AE000659 2157668 RH70886 HGNC:12108 1347572 TRAV14DV4 T cell receptor alpha variable 14/delta variable 4 ASSOCIATED WITH Melanoma (inferred) 8554872 28669 M21626 HGNC:12110 1353574 TRAV15 T cell receptor alpha variable 15 (pseudogene) 14 14 14 q11 2281906 2282445 + 22418334 22418877 + 21950127 21950654 + 8188290 28668 ABBA01061267;AC245505;AE000521;NG_001332 TCRAV15S1 APPROVED pseudo HGNC:12111 VALIDATED 1345107 TRAV16 T cell receptor alpha variable 16 28667 AE000659 HGNC:12112 1351851 TRAV19 T cell receptor alpha variable 19 ASSOCIATED WITH Melanoma (inferred) 8554872 28664 AE000660 HGNC:12115 1342589 TRAV2 T cell receptor alpha variable 2 ASSOCIATED WITH Melanoma (inferred) 8554872 28691 AE000658 2129598 G36317 HGNC:12116 1349078 TRAV20 T cell receptor alpha variable 20 28663 AE000660 1647900;1694764 D14S1325;G43587 HGNC:12117 1345782 TRAV21 T cell receptor alpha variable 21 28662 AE000660 HGNC:12118 1350612 TRAT1 T cell receptor associated transmembrane adaptor 1 ENCODES a protein that exhibits transmembrane receptor protein tyrosine kinase adaptor activity (inferred); INVOLVED IN negative regulation of receptor recycling; negative regulation of transport; positive regulation of calcium-mediated signaling; ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; T cell receptor complex; INTERACTS WITH asbestos; lead diacetate (ortholog); valproic acid (ortholog) 3 3 3 q13 106939375 106971458 + 108541631 108573714 + 108822784 108854867 + 6480464;8554872 10663578;10723796;10790433;11042152;11390434;12477932;12660731;15489334;16160011;18817831;22607805;23699904;23969027;9687533 50852 C9JF66;Q6PIZ9 ABBA01061699;ABBA01061700;AC016932;AF161547;AJ224878;AJ240084;AJ240085;AK291991;AMYH02007401;BC025713;BX111605;BX329167;BX415345;CH471052;KF457667;NM_016388 AAF29034;AAH25713;ABM82979;ABM86173;BAF84680;CAA12178;CAB72134;EAW79717;EAW79718;NP_057472;Q6PIZ9 Hs.138701 1338818;7185149 D3S1302 HSPC062;TCRIM;TRIM OTTHUMP00000214325;OTTHUMP00000214326;T cell receptor interacting molecule;T-cell receptor interacting molecule;T-cell receptor-associated transmembrane adapter 1;T-cell receptor-interacting molecule;pp29/30 protein-coding ENSG00000163519 HGNC:30698 05392 604962 VALIDATED 1343396 TRAV22 T cell receptor alpha variable 22 ASSOCIATED WITH Melanoma (inferred) 8554872 28661 AE000660 1682437 RH93874 HGNC:12119 1348363 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 28660 AE000660 1745803 GDB:642137 HGNC:12120 1353069 TRAV24 T cell receptor alpha variable 24 28659 AE000660 HGNC:12121 1349708 TRAV25 T cell receptor alpha variable 25 28658 AE000660 HGNC:12122 1349637 TRAV26-1 T cell receptor alpha variable 26-1 ASSOCIATED WITH Melanoma (inferred) 8554872 28657 AE000660 HGNC:12123 1344253 TRAV26-2 T cell receptor alpha variable 26-2 ASSOCIATED WITH Melanoma (inferred) 8554872 28656 AE000660 HGNC:12124 1344382 TRAV27 T cell receptor alpha variable 27 ASSOCIATED WITH Lung Neoplasms (inferred) 8554872 28655 AE000660 HGNC:12125 1351669 TRAV28 T cell receptor alpha variable 28 (pseudogene) 14 14 14 q11 2486552 2487111 + 22623012 22623571 + 22155079 22155638 + 8188290 28654 ABBA01061271;AC245470;AE000521;NG_001332 TCRAV28S1 APPROVED pseudo HGNC:12126 VALIDATED 1346761 TRAV29DV5 T cell receptor alpha variable 29/delta variable 5 ASSOCIATED WITH Melanoma (inferred) 8554872 28653 AE000660 HGNC:12127 1351724 TRAV3 T cell receptor alpha variable 3 28690 AE000658 1778369 RH65571 HGNC:12128 1353427 TRAV30 T cell receptor alpha variable 30 28652 AE000660 HGNC:12129 1348385 TRAV17 T cell receptor alpha variable 17 28666 AE000660 1783126 SHGC-171842 HGNC:12113 1348530 TRAV18 T cell receptor alpha variable 18 28665 AE000660 HGNC:12114 1346852 TRAV31 T cell receptor alpha variable 31 (pseudogene) 14 14 14 q11 2508708 2509299 + 22645170 22645761 + 22177273 22177864 + 8188290 28651 ABBA01061271;AC245470;AE000521;NG_001332 TCRAV31S1 APPROVED pseudo HGNC:12130 VALIDATED 1344861 TRAV32 T cell receptor alpha variable 32 (pseudogene) 14 14 14 q11 2516996 2517495 + 22653458 22653957 + 22185562 22186061 + 8188290 28650 ABBA01061272;AC245470;AE000521;NG_001332 TCRAV32S1 APPROVED pseudo HGNC:12131 VALIDATED 1354276 TRAV35 T cell receptor alpha variable 35 28647 AE000660 HGNC:12134 1348642 TRAV34 T cell receptor alpha variable 34 ASSOCIATED WITH Melanoma (inferred) 8554872 28648 AE000660 HGNC:12133 1353711 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 ASSOCIATED WITH Melanoma (inferred) 8554872 28646 AE000660 1851546 RH70855 HGNC:12135 1347318 TRAV33 T cell receptor alpha variable 33 (pseudogene) 14 14 14 q11 2521590 2522146 + 22658052 22658608 + 22190158 22190714 + 8188290 28649 ABBA01061272;AC245470;AE000521;NG_001332 C14orf12;TCRAV33S1 APPROVED pseudo HGNC:12132 VALIDATED 1351446 TRAV38-1 T cell receptor alpha variable 38-1 28644 AE000661 HGNC:12137 1348109 TRAV38-2DV8 T cell receptor alpha variable 38-2/delta variable 8 28643 AE000661 HGNC:12138 1348655 TRAV37 T cell receptor alpha variable 37 (pseudogene) 14 14 14 q11 2597164 2598588 + 22733632 22735056 + 22265749 22267173 + 8188290 28645 ABBA01061272;AC245470;AE000521;NG_001332 TCRAV37S1 APPROVED pseudo HGNC:12136 VALIDATED 1349042 TRAV4 T cell receptor alpha variable 4 28689 AE000658 HGNC:12140 1351178 TRAV40 T cell receptor alpha variable 40 28641 X73521 HGNC:12141 1353137 TRAV41 T cell receptor alpha variable 41 28640 AE000661 HGNC:12142 1347845 TRAV5 T cell receptor alpha variable 5 28688 AE000659 HGNC:12143 1343518 TRAV39 T cell receptor alpha variable 39 28642 AE000661 1761551 SHGC-145547 HGNC:12139 1347077 TRAV6 T cell receptor alpha variable 6 6956 Z49060 1745801 GDB:642127 HGNC:12144 1344609 TRAV7 T cell receptor alpha variable 7 28686 AE000659 HGNC:12145 1351213 TRAV8-1 T cell receptor alpha variable 8-1 28685 AE000659 HGNC:12146 1342558 TRAV8-2 T cell receptor alpha variable 8-2 28684 AE000659 HGNC:12147 1344365 TRAV8-3 T cell receptor alpha variable 8-3 28683 AE000659 HGNC:12148 1354098 TRAV8-4 T cell receptor alpha variable 8-4 ASSOCIATED WITH Melanoma (inferred) 8554872 28682 AE000659 HGNC:12149 1351670 TRAV8-7 T cell receptor alpha variable 8-7 28679 AE000660 HGNC:12152 1346443 TRAV8-5 T cell receptor alpha variable 8-5 (pseudogene) 14 14 14 q11 2234833 2236354 + 22371257 22372778 + 21903077 21904598 + 8188290 28681 ABBA01061267;AC243980;AE000521;NG_001332 TCRAV8S5;TRAV85 APPROVED pseudo HGNC:12150 VALIDATED 1347687 TRAV9-1 T cell receptor alpha variable 9-1 28678 AE000659 HGNC:12153 1345192 TRAV9-2 T cell receptor alpha variable 9-2 28677 AE000659 HGNC:12154 1343960 TRAV8-6 T cell receptor alpha variable 8-6 28680 X02850 HGNC:12151 1348197 TRBD1 T cell receptor beta diversity 1 28637 X00936 HGNC:12158 615447 1350149 TRBD2 T cell receptor beta diversity 2 28636 X02987 HGNC:12159 615448 1343799 TRBJ1-2 T cell receptor beta joining 1-2 28634 X00936 1673393 STS-K02545 HGNC:12163 1351714 TRBJ1-3 T cell receptor beta joining 1-3 28633 M14158 1673393;1743825;2124572 GDB:374188;RH69072;STS-K02545 HGNC:12164 735360 TRB T cell receptor beta locus T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T cell development, the beta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be incapable of encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three of which encode functional proteins and five of which are pseudogenes. Chromosomal abnormalities involving the T-cell receptor beta locus have been associated with T-cell lymphomas. [provided by RefSeq, Jul 2008] 7 7 7 q34 136776319 137348274 + 141998851 142510972 + 142299011 142813287 + 6480464;8554872 10866662;11048639;11096259;11142503;11827988;11841483;11862388;11862389;11920559;12039522;12100034;12366778;12472659;12511607;12552422;12594835;12635936;12925207;14621425;14687707;15138733;15476487;15489916;15613535;15708895;15905344;16310048;16424183;16673021;16709841;16709873;16741518;16968899;17023417;17560605;17622942;17652306;17693403;17785774;18275829;18279372;18323803;18378792;18412309;18453566;18502180;18523312;18777093;19051206;19056690;19380806;19706884;19923469;20035823;20042591;20404925;20553737;20681514;20713881;21182840;21264308;21282516;21317385;21383244;2144610;21481940;21513557;21599810;21666056;21669053;21673345;21690323;21872828;21898091;21943707;22019736;22287717;22323539;22658922;22953050;23091059;23848158;23878218;24116097;24204295;2426193;24324551;24579463;3011602;3860845;3983641;6334237;6334238;8550092;8650574;9121466;9586631 6957 P04435 ABBA01034123;ABBA01034124;ABBA01034125;ABBA01034126;ABBA01034127;ABBA01034128;ABBA01034129;AC104597;AC229888;AC231380;AC231381;AC233282;AC234635;AC239612;AC239618;AC244196;AC244472;AC245088;AC245427;L36092;NG_001333 1336556;1651788;1660942;1665038;1667699;1673393;1680086;1684403;1693766;1694522;1694524;1699580;1700624;1711062;1722465;1739031;1739209;1742679;1742681;1742683;1742685;1743825;1744073;1747843;1751175;1784250;1786900;1852985;2124352;2124572;2124607;2132815;2135739;2139495;2144292;2146411;2148251;2150910;2170030;2171990;2175186;2178600;5014816;5107621;7183709 D2S1884;D3S4005;D7S1576;D7S2020;D7S2277;D7S2473;D7S2928;G43005;G43006;G61973;G65748;GDB:1317306;GDB:1318702;GDB:201758;GDB:201759;GDB:201760;GDB:201761;GDB:374188;GDB:3755013;GDB:385548;PRSS1;RH103391;RH103934;RH17643;RH46953;RH69072;RH69087;RH70695;RH71395;RH94247;SGC35671;SHGC-105044;SHGC-106892;SHGC-171858;SHGC-31009;SHGC-35337;SHGC-35595;SHGC-58840;SHGC-86166;STS-K02545;STS-L48728;STS-M14158;STS-X15505;TCRB TCRB;TRB@ T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster;T-cell receptor, beta cluster;t-cell receptor beta chain APPROVED protein-coding HGNC:12155 186930 REVIEWED 1346311 TRBJ1-1 T cell receptor beta joining 1-1 28635 X00936 1673393 STS-K02545 HGNC:12162 1349889 TRBC1 T cell receptor beta constant 1 INVOLVED IN regulation of immune response (inferred); T cell costimulation (inferred); T cell receptor signaling pathway (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; isotretinoin; progesterone 1580863;6480464 28639 P01850 M12887 HGNC:12156 186930 1346475 TRBC2 T cell receptor beta constant 2 FOUND IN integral component of membrane (inferred) 28638 A0A5B9 M12888 1694522;1694524;5107621 G43005;G43006;SHGC-35337 HGNC:12157 615445 1344842 TRBJ1-5 T cell receptor beta joining 1-5 28631 M14158 1673393;2124572;2150910 RH69072;STS-K02545;STS-M14158 HGNC:12166 1353430 TRBJ1-6 T cell receptor beta joining 1-6 28630 M14158 2124572;2150910 RH69072;STS-M14158 HGNC:12167 1348227 TRBJ1-4 T cell receptor beta joining 1-4 28632 M14158 1673393;2124572 RH69072;STS-K02545 HGNC:12165 1343386 TRBJ2-1 T cell receptor beta joining 2-1 28629 X02987 HGNC:12168 1346351 TRBJ2-2 T cell receptor beta joining 2-2 28628 X02987 HGNC:12169 1354024 TRBJ2-3 T cell receptor beta joining 2-3 28626 X02987 HGNC:12171 1345344 TRBJ2-4 T cell receptor beta joining 2-4 28625 X02987 HGNC:12172 1607040 TRBJ2-2P T cell receptor beta joining 2-2P (non-functional) 7 7 7 q34 137331684 137331729 + 142494381 142494426 + 142796697 142796742 + 2997718;8650574 28627 ABBA01034128;AC104597;AC239618;AC245427;L36092;NG_001333 TRBJ22P pseudo HGNC:12170 VALIDATED 1346887 TRBJ2-5 T cell receptor beta joining 2-5 28624 X02987 HGNC:12173 1352331 TRBJ2-7 T cell receptor beta joining 2-7 28622 M14159 HGNC:12175 1350678 TRBJ2-6 T cell receptor beta joining 2-6 28623 X02987 HGNC:12174 1607041 TRBV1 T cell receptor beta variable 1 (pseudogene) 7 7 7 q34 136776319 136776768 + 141998851 141999300 + 142299011 142299460 + 8650574 28621 ABBA01034123;AC231381;AC245088;L36092;NG_001333 TCRBV1S1P;TCRBV27S1P APPROVED pseudo HGNC:12176 VALIDATED 1350021 TRBV10-3 T cell receptor beta variable 10-3 28583 U03115 HGNC:12179 1343194 TRBV11-3 T cell receptor beta variable 11-3 ASSOCIATED WITH Melanoma (inferred) 8554872 28580 M33234 HGNC:12182 1347554 TRBV12-1 T cell receptor beta variable 12-1 (pseudogene) 7 7 7 q34 136914163 136914605 + 142216290 142216732 - 142415224 142415666 + 3772297;8650574 28579 ABBA01034125;AC233282;AC244196;L36092;NG_001333;X07224 TCRBV12S1;TCRBV8S4P;TRBV121 APPROVED pseudo HGNC:12183 VALIDATED 1350320 TRBV12-2 T cell receptor beta variable 12-2 (pseudogene) 7 7 7 q34 136939824 136940266 + 142190638 142191080 - 142440883 142441325 + 3772297;8650574 28578 ABBA01034125;AC233282;AC244196;L36092;NG_001333;X06936 TCRBV12S2;TCRBV8S5P;TRBV122 APPROVED pseudo HGNC:12184 VALIDATED 1349383 TRBV12-3 T cell receptor beta variable 12-3 INVOLVED IN regulation of immune response (inferred); T cell costimulation (inferred); T cell receptor signaling pathway (inferred); FOUND IN plasma membrane (inferred) 28577 P01733 X07192 1711062 SHGC-86166 HGNC:12185 1346638 TRBV12-4 T cell receptor beta variable 12-4 28576 K02546 HGNC:12186 1347155 TRBV12-5 T cell receptor beta variable 12-5 28575 X07223 HGNC:12187 1343831 TRBV13 T cell receptor beta variable 13 28574 U03115 HGNC:12188 1352697 TRBV14 T cell receptor beta variable 14 6480464 28573 X06154 HGNC:12189 1347361 TRBV10-2 T cell receptor beta variable 10-2 ASSOCIATED WITH Melanoma (inferred) 8554872 28584 U17049 2175186 GDB:1317306 HGNC:12178 1344661 TRBV10-1 T cell receptor beta variable 10-1 ASSOCIATED WITH Melanoma (inferred) 8554872 28585 U17050 HGNC:12177 1349685 TRBV11-1 T cell receptor beta variable 11-1 ASSOCIATED WITH Melanoma (inferred) 8554872 28582 M33233 HGNC:12180 1345732 TRBV11-2 T cell receptor beta variable 11-2 ASSOCIATED WITH Melanoma (inferred) 8554872 28581 L36092 HGNC:12181 1349099 TRBV15 T cell receptor beta variable 15 ASSOCIATED WITH Melanoma (inferred) 8554872 28572 U03115 HGNC:12190 1345822 TRBV16 T cell receptor beta variable 16 (gene/pseudogene) 7 7 q34 137113800 137114253 + 142598016 142598469 + 14730616;15086347;15480765;1660526;7868375;8206523;8650574 28571 ABBA01034126;AC229888;AC244472;AJ841717;L26231;L36092;NG_001333 AAA69811;CAH56738 2170030 SHGC-35595 BV25S1J1.2;TCRBV16S1;TCRBV25S1A2PT APPROVED pseudo HGNC:12191 VALIDATED 1353117 TRBV17 T cell receptor beta variable 17 28570 U03115 HGNC:12192 1351334 TRBV18 T cell receptor beta variable 18 28569 L36092 HGNC:12193 1349212 TRBV19 T cell receptor beta variable 19 INTERACTS WITH benzo[a]pyrene 6480464 28568 U48260 1784250;2144292 D3S4005;SHGC-171858 HGNC:12194 1348874 TRBV2 T cell receptor beta variable 2 28620 L36092 HGNC:12195 1349124 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) 9 9 9 p21 33549653 33550316 + 33617843 33618506 + 33617845 33618508 + 8384723 6962 ABBA01065043;AF029308;AL139008;AMYH02019423;L05149;NG_001337 TCRBV20S2;TCRBV2O;TCRBV2S2O pseudo HGNC:12197 VALIDATED 1354433 TRBV20-1 T cell receptor beta variable 20-1 ASSOCIATED WITH Melanoma (inferred) 8554872 28567 M11955 1651788;1660942;1665038;1667699;1680086;1693766;1694522;1694524;1699580;1739209;1747843;2124352;2124607;2135739;2148251;2171990;5014816;5107621 D7S1576;D7S2277;D7S2928;G43005;G43006;G65748;GDB:1318702;PRSS1;RH103391;RH17643;RH46953;RH69087;SGC35671;SHGC-35337;SHGC-58840;STS-L48728;STS-X15505;TCRB HGNC:12196 1351520 TRBV21-1 T cell receptor beta variable 21-1 (pseudogene) INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 8-bromo-3',5'-cyclic AMP; dexamethasone 7 7 7 q34 137152602 137153069 + 142344427 142344887 + 142636924 142637384 + 6480464 12477932;14702039;8650574 28566 ABBA01034128;AC231380;AC239612;AC244472;L27608;L36092;L48728;NG_001333 AAA51029;AAB59582;AAB59583 1651788;1786900;2148251 SGC35671;SHGC-106892;STS-L48728 TCRBV10S1P;TCRBV21S1;TRBV211 APPROVED pseudo HGNC:12198 VALIDATED 1345444 TRBV21OR9-2 T cell receptor beta variable 21/OR9-2 (pseudogene) 9 9 9 p21 33560935 33561380 + 33629141 33629586 + 33629143 33629588 + 8384723 6959 ABBA01065043;AF029308;AL139008;AMYH02019424;L05151;NG_001337 1651788;1786900 SGC35671;SHGC-106892 TCRBV10O;TCRBV10S2O;TCRBV21S2 APPROVED pseudo HGNC:12199 VALIDATED 1603650 TRBV22-1 T cell receptor beta variable 22-1 (pseudogene) 7 7 7 q34 137157424 137157874 + 142349249 142349699 + 142641746 142642196 + 8650574 28565 ABBA01034128;AC231380;AC239612;AC244472;L36092;NG_001333 TCRBV22S1;TCRBV29S1P;TRBV22 APPROVED pseudo HGNC:12200 VALIDATED 1342627 TRBV22OR9-2 T cell receptor beta variable 22/OR9-2 (pseudogene) 9 9 9 p21 33565645 33566094 + 33633851 33634300 + 33633853 33634302 + 8384723 246283 ABBA01065043;AF029308;AL139008;AMYH02019424;NG_001337 TCRBV22S2;TCRBV29S2O APPROVED pseudo HGNC:18740 VALIDATED 1343306 TRBV24-1 T cell receptor beta variable 24-1 28563 M11951 HGNC:12203 1351381 TRBV24OR9-2 T cell receptor beta variable 24/OR9-2 (pseudogene) 9 9 9 p21 33580921 33581403 + 33649129 33649611 + 33649131 33649613 + 8384723 6961 ABBA01065043;AF029308;AL139008;AMYH02019425;L05153;NG_001337 TCRBV15O;TCRBV15S2O;TCRBV24S2 APPROVED pseudo HGNC:12204 VALIDATED 1344272 TRBV23OR9-2 T cell receptor beta variable 23/OR9-2 (non-functional) 9 9 9 p21 33569829 33570300 + 33638035 33638506 + 33638037 33638508 + 8384723 28552 ABBA01065043;AF029308;AL139008;AMYH02019424;L27615;NG_001337 AAA36721 1680086 RH17643 TCRBV19S2O;TCRBV23S2;TRBV23OR92 pseudo HGNC:12202 VALIDATED 1347072 TRBV25-1 T cell receptor beta variable 25-1 28562 L27610 2135739 TCRB HGNC:12205 1344379 TRBV25OR9-2 T cell receptor beta variable 25/OR9-2 (pseudogene) 9 9 9 p21 33593994 33594455 + 33662201 33662662 + 33662203 33662664 + 8384723 6960 ABBA01065042;AF029308;AL356489;AMYH02019425;L05152;NG_001337 1678065 RH98372 TCRBV11O;TCRBV11S2O;TCRBV25S2 APPROVED pseudo HGNC:12206 VALIDATED 1603652 TRBV26 T cell receptor beta variable 26 (pseudogene) 7 7 7 q34 137210280 137210764 + 142403511 142403995 + 142695699 142696183 + 8650574 28561 ABBA01034128;AC231380;AC239612;AC244472;L36092;NG_001333 TCRBV26S1;TCRBV28S1P APPROVED pseudo HGNC:12207 VALIDATED 1343790 TRBV27 T cell receptor beta variable 27 INTERACTS WITH silicon dioxide 6480464 28560 L36092 1699580;5015961;5109281 D15S1477;D1S1425;RH103391 HGNC:12208 1350872 TRBV26OR9-2 T cell receptor beta variable 26/OR9-2 (pseudogene) 9 9 9 p21 33627374 33627855 + 33695578 33696059 + 33695580 33696061 + 8384723 246285 ABBA01065042;AF029308;AL356489;AMYH02019425;NG_001337 TCRBV26S2;TCRBV28S2;TCRBV28S2O APPROVED pseudo HGNC:15485 VALIDATED 1354430 TRBV29-1 T cell receptor beta variable 29-1 ASSOCIATED WITH Melanoma (inferred) 8554872 28558 L36092 2124607 RH46953 HGNC:12210 1352321 TRBV28 T cell receptor beta variable 28 28559 U08314 1667699;1673393;1693766;1739209;1743825;1747843;2124352;2124572;2124607;2150910;2171990;5014816 D7S2277;D7S2928;G65748;GDB:1318702;GDB:374188;PRSS1;RH46953;RH69072;RH69087;SHGC-58840;STS-K02545;STS-M14158 HGNC:12209 1342897 TRBV29OR9-2 T cell receptor beta variable 29/OR9-2 (non-functional) 9 9 9 p21 33718070 33718677 + 33786219 33786826 + 33786221 33786828 + 8384723 6958 ABBA01065042;AF029308;AL358573;AMYH02019429;L05150;NG_001337 TCRBV29S2;TCRBV4O;TCRBV4S2O;TRBV29/OR9-2 pseudo HGNC:12211 VALIDATED 1345889 TRBV3-1 T cell receptor beta variable 3-1 28619 U07977 1336556;7183709 D7S2473 HGNC:12212 1607042 TRBV3-2 T cell receptor beta variable 3-2 (pseudogene) 7 q34 136836473 136836932 + 8650574 28618 ABBA01034124;AC234635;L36092;NG_001333 TCRBV3S2;TCRBV9S2A2PT;TRBV32 APPROVED pseudo HGNC:12213 VALIDATED 1343540 TRBV30 T cell receptor beta variable 30 28557 L36092 1694522;1694524;1744073;5107621 G43005;G43006;GDB:385548;SHGC-35337 HGNC:12214 1347808 TRBV4-2 T cell receptor beta variable 4-2 28616 U07975 HGNC:12216 1348099 TRBV4-1 T cell receptor beta variable 4-1 28617 U07977 1684403 RH94247 HGNC:12215 1349019 TRBV4-3 T cell receptor beta variable 4-3 28615 U07978 1684403 RH94247 HGNC:12217 1603651 TRBV23-1 T cell receptor beta variable 23-1 (non-functional) 7 7 7 q34 137161643 137162146 + 142353468 142353964 + 142645961 142646467 + 8650574 28564 ABBA01034128;AC231380;AC239612;AC244472;L36092;NG_001333 1680086 RH17643 TCRBV19S1P;TCRBV23S1;TRBV231 pseudo HGNC:12201 VALIDATED 1349941 TRBV5-1 T cell receptor beta variable 5-1 28614 L36092 HGNC:12218 1607043 TRBV5-2 T cell receptor beta variable 5-2 (pseudogene) 7 7 7 q34 136871402 136871842 + 142259058 142259498 - 142372473 142372913 + 12707368;8650574 28613 ABBA01034125;AC233282;AC234635;AC245088;L36092;NG_001333 2139495 D7S2020 TCRBV31S1;TCRBV5S2P;TRBV52 APPROVED pseudo HGNC:12219 VALIDATED 1345174 TRBV5-4 T cell receptor beta variable 5-4 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1 6480464;8554872 28611 L36092 5107621 SHGC-35337 HGNC:12221 1346977 TRBV5-5 T cell receptor beta variable 5-5 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 8554872 28610 L36092 HGNC:12222 1353738 TRBV5-3 T cell receptor beta variable 5-3 (non-functional) 7 7 7 q34 136888145 136888611 + 142242281 142242747 - 142389202 142389668 + 1660526;8650574 28612 ABBA01034125;AC233282;AC234635;AC245088;L36092;NG_001333;X61439 CAA43679 1700624 RH103934 TCRBV5S3;TCRBV5S5P;TRBV53 pseudo HGNC:12220 VALIDATED 1353713 TRBV5-8 T cell receptor beta variable 5-8 28607 L36092 1739031;2178600 D2S1884;SHGC-31009 HGNC:12225 1350279 TRBV5-7 T cell receptor beta variable 5-7 28608 L36092 HGNC:12224 1350198 TRBV5-6 T cell receptor beta variable 5-6 ASSOCIATED WITH Melanoma (inferred) 8554872 28609 L36092 HGNC:12223 1345448 TRBV6-1 T cell receptor beta variable 6-1 28606 X61446 HGNC:12226 1347964 TRBV6-2 T cell receptor beta variable 6-2 28605 X61445 HGNC:12227 1350235 TRBV6-3 T cell receptor beta variable 6-3 28604 U07978 HGNC:12228 1343979 TRBV6-4 T cell receptor beta variable 6-4 28603 X61653 2139495 D7S2020 HGNC:12229 1346660 TRBV6-5 T cell receptor beta variable 6-5 ASSOCIATED WITH Melanoma (inferred) 8554872 28602 L36092 5107621 SHGC-35337 HGNC:12230 1349277 TRBV6-6 T cell receptor beta variable 6-6 ASSOCIATED WITH Melanoma (inferred) 8554872 28601 L36092 HGNC:12231 1351484 TRBV6-7 T cell receptor beta variable 6-7 28600 L36092 HGNC:12232 1347958 TRBV6-9 T cell receptor beta variable 6-9 28598 X61447 HGNC:12234 1345245 TRBV6-8 T cell receptor beta variable 6-8 28599 L36092 HGNC:12233 1352779 TRBV7-3 T cell receptor beta variable 7-3 ASSOCIATED WITH Melanoma (inferred) 8554872 28595 X61440 1742679;2132815 GDB:201758;RH71395 HGNC:12237 1346866 TRBV7-4 T cell receptor beta variable 7-4 28594 L36092 HGNC:12238 1345893 TRBV7-1 T cell receptor beta variable 7-1 (non-functional) 7 7 7 q34 136809513 136810001 + 142032039 142032527 + 142332215 142332701 + 1404388;1660526;8381389;8650574 28597 ABBA01034123;AC231381;AC245088;L36092;NG_001333;X61444 CAA43684 1742683 GDB:201760 TCRBV6S7P;TCRBV7S1;TRBV71 pseudo HGNC:12235 VALIDATED 1349523 TRBV7-2 T cell receptor beta variable 7-2 28596 X61442 1651788;1660942;1665038;1667699;1673393;1680086;1693766;1694522;1694524;1699580;1700624;1711062;1722465;1739031;1739209;1742679;1742681;1742685;1743825;1747843;1751175;1784250;1786900;1852985;2124352;2124572;2124607;2132815;2135739;2139495;2144292;2146411;2148251;2150910;2170030;2171990;2175186;2178600;5014816 D2S1884;D3S4005;D7S1576;D7S2020;D7S2277;D7S2928;G43005;G43006;G61973;G65748;GDB:1317306;GDB:1318702;GDB:201758;GDB:201759;GDB:201761;GDB:374188;GDB:3755013;PRSS1;RH103391;RH103934;RH17643;RH46953;RH69072;RH69087;RH70695;RH71395;SGC35671;SHGC-105044;SHGC-106892;SHGC-171858;SHGC-31009;SHGC-35595;SHGC-58840;SHGC-86166;STS-K02545;STS-L48728;STS-M14158;STS-X15505;TCRB HGNC:12236 1351136 TRBV7-6 T cell receptor beta variable 7-6 28592 L36092 HGNC:12240 1603647 TRBV7-5 T cell receptor beta variable 7-5 (pseudogene) 7 7 7 q34 136973047 136973518 + 142157378 142157849 - 142474096 142474567 + 8650574 28593 ABBA01034125;AC233282;AC244196;L36092;NG_001333 TCRBV6S9P;TCRBV7S5;TRBV75 APPROVED pseudo HGNC:12239 VALIDATED 1354335 TRBV7-7 T cell receptor beta variable 7-7 28591 L36092 HGNC:12241 1343500 TRBV7-9 T cell receptor beta variable 7-9 ASSOCIATED WITH Melanoma (inferred) 8554872 28589 L36092 1722465 G61973 HGNC:12243 1342684 TRBV7-8 T cell receptor beta variable 7-8 28590 M11953 1742685 GDB:201761 HGNC:12242 1347924 TRBV9 T cell receptor beta variable 9 28586 L36092 1852985;2146411 GDB:3755013;RH70695 HGNC:12246 1603648 TRBV8-1 T cell receptor beta variable 8-1 (pseudogene) 7 7 7 q34 136857556 136857842 + 142273056 142273342 - 142358631 142358917 + 8650574 28588 ABBA01034125;AC233282;AC234635;AC245088;L36092;NG_001333 TCRBV30S1P;TCRBV8S1P;TRBV81 APPROVED pseudo HGNC:12244 VALIDATED 1603653 TRBVA T cell receptor beta variable A (pseudogene) 7 7 7 q34 137195987 137196441 + 142389237 142389691 + 142681415 142681869 + 8650574 28556 ABBA01034128;AC231380;AC239612;AC244472;L36092;NG_001333 1665038 D7S1576 TCRBV33S1 APPROVED pseudo HGNC:12247 VALIDATED 1603649 TRBV8-2 T cell receptor beta variable 8-2 (pseudogene) 7 7 7 q34 136885129 136885589 + 142245303 142245763 - 142386187 142386647 + 8650574 28587 ABBA01034125;AC233282;AC234635;AC245088;L36092;NG_001333 1742679;2132815 GDB:201758;RH71395 TCRBV32S1P;TRBV82 APPROVED pseudo HGNC:12245 VALIDATED 1603654 TRBVB T cell receptor beta variable B (pseudogene) 7 7 7 q34 137225978 137226518 + 142419212 142419752 + 142711384 142711924 + 8650574 28555 ABBA01034128;AC231380;AC239612;AC244472;L36092;NG_001333 TCRBV34S1 APPROVED pseudo HGNC:12248 VALIDATED 1347997 TRBVAOR9-2 T cell receptor beta variable A/OR9-2 (pseudogene) 9 9 9 p21 33614063 33614516 + 33682268 33682721 + 33682270 33682723 + 8384723 246286 ABBA01065042;AF029308;AL356489;AMYH02019425;NG_001337 1665038 D7S1576 TCRBV33S2;TRBVA/OR9-2 APPROVED pseudo HGNC:18741 VALIDATED 1342663 TRBVOR9@ T cell receptor beta variable orphans on chromosome 9 8384723 6963 HGNC:12249 2300833 TRC-GCA1-1 transfer RNA-Cys (GCA) 1-1 7;MT 7 149007281 149007352 + 149310190 149310261 + 18984615 100189144 ABBA01033629;AC004941;AMYH02017045;HG983685 TRNAC10 APPROVED trna HGNC:34706 MODEL 2300469 TRC-ACA1-1 transfer RNA-Cys (ACA) 1-1 5 5 5 q33.1 148063958 148064133 + 151988596 151988771 + 152609036 152609211 + 100189508 ABBA01026247;AC091969;AMYH02012483;HG983684;NG_008566 2171522 L28184 TRNAC32P APPROVED pseudo HGNC:35083 INFERRED 2300969 TRC-GCA11-1 transfer RNA-Cys (GCA) 11-1 7;MT 7 149112229 149112300 - 149415138 149415209 - 18984615 100189008 ABBA01033630;AC004941;AMYH02017047;HG983701 TRNAC2 APPROVED trna HGNC:34566 MODEL 2300902 TRC-GCA12-1 transfer RNA-Cys (GCA) 12-1 7;MT 7 149344046 149344117 - 149646955 149647026 - 18984615 100189075 ABBA01033635;AC013273;AMYH02017051;HG983702 TRNAC6 APPROVED trna HGNC:34634 MODEL 2300620 TRC-GCA13-1 transfer RNA-Cys (GCA) 13-1 7;MT 7 149052766 149052837 - 149355675 149355746 - 18984615 100189357 ABBA01033629;AC004941;AMYH02017046;HG983703 2122962 GDB:1317768 TRNAC23 APPROVED trna HGNC:34925 MODEL 2300672 TRC-GCA10-1 transfer RNA-Cys (GCA) 10-1 7;MT 7 149074601 149074672 - 149377510 149377581 - 18984615 100189305 ABBA01033629;AC004941;AMYH02017046;HG983700 TRNAC21 APPROVED trna HGNC:34871 MODEL 2300542 TRC-GCA14-1 transfer RNA-Cys (GCA) 14-1 17;MT 17 37017937 37018008 - 38861684 38861755 - 18984615 100189435 ABBA01031894;AC110749;AMYH02033366;HG983704 TRNAC30 APPROVED trna HGNC:35005 MODEL 2300710 TRC-GCA15-1 transfer RNA-Cys (GCA) 15-1 7;MT 7 149281816 149281887 + 149584725 149584796 + 18984615 100189267 ABBA01033635;AC004932;AMYH02017051;HG983705 TRNAC19 APPROVED trna HGNC:34830 MODEL 2300831 TRC-GCA16-1 transfer RNA-Cys (GCA) 16-1 7;MT 7 149243631 149243702 + 149546540 149546611 + 18984615 100189146 ABBA01033635;AC004932;AMYH02017051;HG983706 TRNAC11 APPROVED trna HGNC:34708 MODEL 2300928 TRC-GCA18-1 transfer RNA-Cys (GCA) 18-1 7;MT 7 149072850 149072921 - 149375759 149375830 - 18984615 100189049 ABBA01033629;AC004941;AMYH02017046;HG983708 TRNAC4 APPROVED trna HGNC:34608 MODEL 2300800 TRC-GCA19-1 transfer RNA-Cys (GCA) 19-1 7;MT 7 149310156 149310227 - 149613065 149613136 - 18984615 100189177 ABBA01033635;AC004932;AMYH02017051;HG983709 1760337 SHGC-141850 TRNAC13 APPROVED trna HGNC:34739 MODEL 2300925 TRC-GCA2-1 transfer RNA-Cys (GCA) 2-1 17;MT 17 37023898 37023969 + 38867645 38867716 + 18984615 100189052 ABBA01031894;AC110749;AMYH02033366;HG983686 TRNAC5 APPROVED trna HGNC:34611 MODEL 2300688 TRC-GCA17-1 transfer RNA-Cys (GCA) 17-1 7;MT 7 149388272 149388343 - 149691181 149691252 - 18984615 100189289 ABBA01033635;AC004897;AMYH02017051;HG983707 TRNAC20 APPROVED trna HGNC:34855 MODEL 2300563 TRC-GCA2-3 transfer RNA-Cys (GCA) 2-3 17;MT 17 37310744 37310815 - 39154491 39154562 - 18984615 100189414 ABBA01031883;AC004408;AMYH02033373;HG983688 TRNAC29 APPROVED trna HGNC:34983 MODEL 2300872 TRC-GCA2-2 transfer RNA-Cys (GCA) 2-2 17;MT 17 37309987 37310058 - 39153734 39153805 - 18984615 100189105 ABBA01031883;AC004408;AMYH02033373;HG983687 TRNAC9 APPROVED trna HGNC:34666 MODEL 2300780 TRC-GCA2-4 transfer RNA-Cys (GCA) 2-4 4;MT 4 124430005 124430076 - 123508850 123508921 - 18984615 100189197 ABBA01044755;AC093821;AMYH02010029;HG983689 TRNAC16 APPROVED trna HGNC:34760 MODEL 2300622 TRC-GCA20-1 transfer RNA-Cys (GCA) 20-1 7;MT 7 149295046 149295117 + 149597955 149598026 + 18984615 100189355 ABBA01033635;AC004932;AMYH02017051;HG983710 TRNAC22 APPROVED trna HGNC:34923 MODEL 2300602 TRC-GCA21-1 transfer RNA-Cys (GCA) 21-1 7;MT 7 149361915 149361986 + 149664824 149664895 + 18984615 100189375 ABBA01033635;AC004897;AMYH02017051;HG983711 TRNAC25 APPROVED trna HGNC:34943 MODEL 2300948 TRC-GCA22-1 transfer RNA-Cys (GCA) 22-1 7;MT 7 149253802 149253873 + 149556711 149556782 + 18984615 100189029 ABBA01033635;AC004932;AMYH02017051;HG983712 2176166 D7S1395 TRNAC3 APPROVED trna HGNC:34588 MODEL 1343197 TRC-GCA24-1 transfer RNA-Cys (GCA) 24-1 MT q12 1 1 18984615 7183 AC006449;HG983714 TRC;TRNAC1 APPROVED trna HGNC:12250 2300530 TRC-GCA25-1 transfer RNA-Cys (GCA) 25-1 3 3 3 p24.3 17679734 17679806 - 17741392 17741464 - 17699900 17699972 - 18984615 100189447 ABBA01025120;AC104451;AMYH02006352;HG983715;NG_008503 TRNAC31P APPROVED pseudo HGNC:35017 INFERRED 2300880 TRC-GCA3-1 transfer RNA-Cys (GCA) 3-1 7;MT 7 149286164 149286235 - 149589073 149589144 - 18984615 100189097 ABBA01033635;AC004932;AMYH02017051;HG983690 1761511 SHGC-145516 TRNAC8 APPROVED trna HGNC:34658 MODEL 2300887 TRC-GCA4-1 transfer RNA-Cys (GCA) 4-1 17;MT 17 37025545 37025616 - 38869292 38869363 - 18984615 100189090 ABBA01031894;AC110749;AMYH02033366;HG983691 TRNAC7 APPROVED trna HGNC:34650 MODEL 2300822 TRC-GCA5-1 transfer RNA-Cys (GCA) 5-1 15;MT 15 80036997 80037069 + 79744655 79744727 + 18984615 100189155 ABBA01060615;AC026826;AMYH02030878;HG983692 2184459 G38131 TRNAC12 APPROVED trna HGNC:34717 MODEL 2300798 TRC-GCA6-1 transfer RNA-Cys (GCA) 6-1 3;MT 3 131947944 131948015 - 132229100 132229171 - 18984615 100189179 ABBA01059187;AC073021;AMYH02007684;HG983693 TRNAC14 APPROVED trna HGNC:34741 MODEL 8663166 TRC-GCA7-1 transfer RNA-Cys (GCA) 7-1 MT 1 1 18984615 103456508 HG983694 TRNAC33 trna HGNC:38575 2300727 TRC-GCA9-1 transfer RNA-Cys (GCA) 9-1 3;MT 3 131950642 131950713 - 132231798 132231869 - 18984615 100189250 ABBA01059187;AC073021;AMYH02007684;HG983696 TRNAC18 APPROVED trna HGNC:34813 MODEL 2300618 TRC-GCA8-1 transfer RNA-Cys (GCA) 8-1 14;MT 14 73429679 73429750 + 72962971 72963042 + 18984615 100189359 ABBA01030777;AL442663;AMYH02029479;HG983695 1665333;2184459 G38131;G38234 TRNAC24 APPROVED trna HGNC:34927 MODEL 2300601 TRC-GCA9-3 transfer RNA-Cys (GCA) 9-3 7;MT 7 149332778 149332849 + 149635687 149635758 + 18984615 100189376 ABBA01033635;AC004932;AMYH02017051;HG983698 TRNAC26 APPROVED trna HGNC:34944 MODEL 2300564 TRC-GCA9-2 transfer RNA-Cys (GCA) 9-2 7;MT 7 149028220 149028291 + 149331129 149331200 + 18984615 100189413 ABBA01033629;AC004941;AMYH02017046;HG983697 TRNAC28 APPROVED trna HGNC:34982 MODEL 2300783 TRC-GCA23-1 transfer RNA-Cys (GCA) 23-1 7;MT 7 149292305 149292376 - 149595214 149595285 - 18984615 100189194 ABBA01033635;AC004932;AMYH02017051;HG983713 TRNAC15 APPROVED trna HGNC:34757 MODEL 2300598 TRC-GCA9-4 transfer RNA-Cys (GCA) 9-4 7;MT 7 149404760 149404831 + 149707669 149707740 + 18984615 100189379 ABBA01033635;AC004897;AMYH02017051;HG983699 TRNAC27 APPROVED trna HGNC:34947 MODEL 2300770 TRD-GTC1-1 transfer RNA-Asp (GTC) 1-1 12;MT 12 98897281 98897352 + 98503503 98503574 + 18984615 100189207 ABBA01053288;AC013418;AMYH02027037;HG983664 TRNAD10 APPROVED trna HGNC:34770 MODEL 2300482 TRD-GTC10-1 transfer RNA-Asp (GTC) 10-1 1 1 1 q23.3 1803 1874 - 161492935 161493006 + 161523145 161523216 + 18984615 100189495 ABBA01047318;AC243509;AL590385;HG983683;NG_008553 TRNAD20P APPROVED pseudo HGNC:35070 INFERRED 1353545 TRD T cell receptor delta locus 14 14 14 q11.2 2754484 2798520 + 22891537 22935569 + 22422546 22466577 + 6480464 11714808;12088111;12707047;12847212;12918704;13679813;14656882;14734745;16081821;16307908;16424183;16548914;17015149;18321859;18440637;18624305;19446661;19536290;19666468;19756574;19843947;20181655;20413723;20592281;20952657;21753698;21928126;21982596;22045985;22078709;22171570;22180442;23312956;23336327;23770719;23878218;24076636;2439914;2456576;2521243;2521355;2825032;2965024;3499667;8340374;8386664 6964 ABBA01061277;AC244502;AE000521;NG_001332 1650608;1742851;1787696;2139010;2146178 D14S1186;D14S920;G35434;GDB:210884;SHGC-171779 FLJ52034;FLJ52576;FLJ53668;FLJ54555;FLJ55265;FLJ56790;TCRD;TCRDV1;TRD@ T-cell antigen receptor, delta polypeptide;T-cell receptor, delta (V,D,J,C) 2315792 GLUCO171_H APPROVED protein-coding HGNC:12252 186810 VALIDATED 2300819 TRD-GTC2-10 transfer RNA-Asp (GTC) 2-10 6;MT 6 27447453 27447524 + 27479674 27479745 + 18984615 100189158 ABBA01037996;AL021918;AMYH02013382;HG983674 TRNAD8 APPROVED trna HGNC:34720 MODEL 2300565 TRD-GTC2-1 transfer RNA-Asp (GTC) 2-1 1;MT 1 161410615 161410686 - 161440825 161440896 - 18984615 100189412 ABBA01016588;AC244471;AL831711;HG983665 TRNAD18 APPROVED trna HGNC:34981 MODEL 2300685 TRD-GTC2-11 transfer RNA-Asp (GTC) 2-11 6;MT 6 27471523 27471594 + 27503744 27503815 + 18984615 100189292 ABBA01037998;AL021918;AMYH02013382;HG983675 TRNAD14 APPROVED trna HGNC:34858 MODEL 2300742 TRD-GTC2-2 transfer RNA-Asp (GTC) 2-2 1;MT 1 161418033 161418104 - 161448243 161448314 - 18984615 100189235 AL590385;HG983666 TRNAD11 APPROVED trna HGNC:34798 MODEL 2300843 TRD-GTC2-4 transfer RNA-Asp (GTC) 2-4 1;MT 1 161432824 161432895 - 161463034 161463105 - 18984615 100189134 AL590385;HG983668 TRNAD6 APPROVED trna HGNC:34696 MODEL 2300687 TRD-GTC2-3 transfer RNA-Asp (GTC) 2-3 1;MT 1 161425414 161425485 - 161455624 161455695 - 18984615 100189290 ABBA01136092;AC244471;AL590385;HG983667 TRNAD13 APPROVED trna HGNC:34856 MODEL 2300857 TRD-GTC2-5 transfer RNA-Asp (GTC) 2-5 1;MT 1 161440205 161440276 - 161470415 161470486 - 18984615 100189120 AC243546;AL590385;HG983669 TRNAD5 APPROVED trna HGNC:34682 MODEL 2300738 TRD-GTC2-6 transfer RNA-Asp (GTC) 2-6 12;MT 12 96429799 96429870 + 96036021 96036092 + 18984615 100189239 ABBA01053319;AC007298;AMYH02026994;HG983670 TRNAD12 APPROVED trna HGNC:34802 MODEL 2300634 TRD-GTC2-7 transfer RNA-Asp (GTC) 2-7 12;MT 12 125411891 125411962 - 124927345 124927416 - 18984615 100189343 ABBA01060362;AC126309;AMYH02027479;HG983671 TRNAD15 APPROVED trna HGNC:34911 MODEL 2300594 TRD-GTC2-9 transfer RNA-Asp (GTC) 2-9 17;MT 17 8125556 8125627 - 8222238 8222309 - 18984615 100189383 ABBA01054904;AC135178;AMYH02032923;HG983673 TRNAD17 APPROVED trna HGNC:34951 MODEL 2300630 TRD-GTC2-8 transfer RNA-Asp (GTC) 2-8 12;MT 12 125424193 125424264 - 124939647 124939718 - 18984615 100189347 ABBA01060359;AC093719;AMYH02027479;HG983672 TRNAD16 APPROVED trna HGNC:34915 MODEL 2300777 TRD-GTC3-1 transfer RNA-Asp (GTC) 3-1 6;MT 6 27551236 27551307 - 27583457 27583528 - 18984615 100189200 ABBA01038000;AL021918;AMYH02013383;HG983676 TRNAD9 APPROVED trna HGNC:34763 MODEL 2300983 TRD-GTC4-1 transfer RNA-Asp (GTC) 4-1 MT 1 1 18984615 100188994 AL158825;HG983677 TRNAD2 APPROVED trna HGNC:34551 2300916 TRD-GTC5-1 transfer RNA-Asp (GTC) 5-1 MT 136920340 136920411 - 18984615 100189061 ABBA01026379;AC010317;HG983678 TRNAD3 APPROVED trna HGNC:34620 MODEL 2300827 TRD-GTC6-1 transfer RNA-Asp (GTC) 6-1 MT 1 1 18984615 100189150 AC117455;HG983679 TRNAD7 APPROVED trna HGNC:34712 2300546 TRD-GTC8-1 transfer RNA-Asp (GTC) 8-1 MT 1 1 18984615 100189431 AC079406;HG983681 TRNAD19 APPROVED trna HGNC:35000 2300890 TRD-GTC7-1 transfer RNA-Asp (GTC) 7-1 MT 1 1 18984615 100189087 AL590385;HG983680 TRNAD4 APPROVED trna HGNC:34647 1348389 TRDC T cell receptor delta constant FOUND IN integral component of membrane (inferred) 28526 B7Z8K6 M22148 2139010 D14S1186 HGNC:12253 186810 1352762 TRDD1 T cell receptor delta diversity 1 28525 M23325 HGNC:12254 1352440 TRD-GTC9-1 transfer RNA-Asp (GTC) 9-1 MT q23.3 1 1 18984615 7192 AL451067;HG983682 TRD;TRNAD1 APPROVED trna HGNC:12251 1348450 TRDD2 T cell receptor delta diversity 2 28524 M22153 HGNC:12255 1348569 TRDD3 T cell receptor delta diversity 3 28523 M22152 HGNC:12256 1345756 TRDJ2 T cell receptor delta joining 2 28521 L36386 HGNC:12258 1349238 TRDJ1 T cell receptor delta joining 1 28522 M20289 HGNC:12257 1352909 TRDJ3 T cell receptor delta joining 3 28520 M21508 HGNC:12259 1348491 TRDJ4 T cell receptor delta joining 4 28519 HGNC:12260 1343000 TRDV2 T cell receptor delta variable 2 28517 X15207 1647900;1694764;1742851 D14S1325;G43587;GDB:210884 HGNC:12263 1352101 TRDV1 T cell receptor delta variable 1 28518 M22198 1299943;1650608;1742651;1742653;1742655;1742851;1761273;1761551;1783032;1783122;1787696;1851546;2146178;7185537 D14S283;D14S920;G35434;GDB:198183;GDB:198184;GDB:198186;GDB:210884;RH70855;SHGC-143450;SHGC-145279;SHGC-145547;SHGC-171777;SHGC-171779 HGNC:12262 1348439 TRDV3 T cell receptor delta variable 3 28516 M23326 1741999;2131541 GDB:188625;RH18088 HGNC:12264 2300886 TRE-CTC1-2 transfer RNA-Glu (CTC) 1-2 1;MT 1 161417018 161417089 - 161447228 161447299 - 18984615 100189091 AL590385;HG983754 TRNAE13 APPROVED trna HGNC:34651 MODEL 2300593 TRE-CTC1-1 transfer RNA-Glu (CTC) 1-1 1;MT 1 145399233 145399304 - 146035692 146035763 + 18984615 100189384 ABBA01005749;AC239799;AL355505;HG983753 TRNAE21 APPROVED trna HGNC:34952 MODEL 1606039 TRDMT1 tRNA aspartic acid methyltransferase 1 This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010] 10 10 10 p15.1 17118228 17177333 - 17179828 17244093 - 17137829 17202090 - 6480464;6907045 11139614;11230735;11551826;11713417;12477932;12665573;12794065;14702039;15094296;15164054;15721400;16169070;16173030;16424344;16679017;17533396;18567810;19064572;19161160;19246518;19680556;19763880;19808971;19851296;20147412;20800603;20864816;21832049;21988832;22591353;23824729;24478790;9425235;9592134;9599025;9763678 1787 B0YJ06;B7Z8H2;H0Y2T8;H0Y4A2;O14717;Q6ICS7;Q7Z3E4 ABBA01034559;ABBA01034560;AC067747;AF012128;AF045888;AF329940;AF329941;AF329942;AF329943;AF329944;AJ223333;AK021659;AK291417;AK294100;AK299027;AK303428;AL133415;AMYH02022245;BC047733;BU620523;BX537961;CH471072;CR450316;DC411638;EF444974;NM_004412;XM_005252372;XM_005252373;XM_005252374;XM_005252375;XM_005252376;XM_005252378;XM_006717388 AAC39764;AAC51939;AAH47733;AAK68033;AAK68034;AAK68035;AAK68036;AAK68037;ACA05981;ACA05982;ACA05983;ACA05984;ACA05986;ACA05987;BAF84106;BAG61104;BAH11673;BAH13958;CAA11272;CAD97925;CAG29312;EAW86217;EAW86218;EAW86219;NP_004403;O14717;XP_005252429;XP_005252430;XP_005252431;XP_005252432;XP_005252433;XP_005252435;XP_006717451 Hs.351665 1651247;1654571;1680072;1706728 D10S1456;RH70165;RH92114;SHGC-80818 DMNT2;DNMT2;M.HsaIIP;MHSAIIP;RNMT1 DNA (cytosine-5)-methyltransferase-like protein 2;DNA MTase homolog HsaIIP;DNA methyltransferase-2;OTTHUMP00000019228;OTTHUMP00000019229;PuMet;tRNA (cytosine(38)-C(5))-methyltransferase;tRNA (cytosine-5-)-methyltransferase APPROVED protein-coding HGNC:2977 16001 602478 REVIEWED 2300592 TRE-CTC1-3 transfer RNA-Glu (CTC) 1-3 1;MT 1 161424398 161424469 - 161454608 161454679 - 18984615 100189385 ABBA01136092;AC243546;AC244471;AL590385;HG983755 TRNAE22 APPROVED trna HGNC:34953 MODEL 2300718 TRE-CTC1-4 transfer RNA-Glu (CTC) 1-4 1;MT 1 161431809 161431880 - 161462019 161462090 - 18984615 100189259 AC243546;AL590385;HG983756 TRNAE18 APPROVED trna HGNC:34822 MODEL 2300960 TRE-CTC1-5 transfer RNA-Glu (CTC) 1-5 1;MT 1 161439189 161439260 - 161469399 161469470 - 18984615 100189017 AL590385;HG983757 TRNAE5 APPROVED trna HGNC:34576 MODEL 2300445 TRE-CTC10-1 transfer RNA-Glu (CTC) 10-1 20 20 20 p12.1 14045848 14045919 - 13970470 13970541 - 13989824 13989895 - 18984615 100189532 ABBA01053978;AL117333;AMYH02036726;HG983768;NG_008590 TRNAE43P APPROVED pseudo HGNC:35109 INFERRED 2300953 TRE-CTC1-6 transfer RNA-Glu (CTC) 1-6 6;MT 6 28949976 28950047 + 28982199 28982270 + 18984615 100189024 ABBA01038029;AL662791;AL662865;AL929561;AMYH02013404;BX248109;BX927167;CR759835;CR759957;HG983758 TRNAE6 APPROVED trna HGNC:34583 MODEL 2300708 TRE-CTC1-7 transfer RNA-Glu (CTC) 1-7 6;MT 6 126101393 126101464 - 125780247 125780318 - 18984615 100189269 ABBA01025947;AL078594;AMYH02014435;HG983759 TRNAE19 APPROVED trna HGNC:34832 MODEL 2300489 TRE-CTC11-1 transfer RNA-Glu (CTC) 11-1 8 8 p23.1 10922853 10922924 + 11793380 11793451 + 18984615 100189488 AC107918;HG983769;NG_008546 TRNAE35P APPROVED pseudo HGNC:35061 INFERRED 2300537 TRE-CTC12-1 transfer RNA-Glu (CTC) 12-1 3 3 3 q13.11 102277487 102277558 - 103879524 103879595 - 104160680 104160751 - 18984615 100189440 ABBA01061747;AC078811;AMYH02007353;HG983770;NG_008496 TRNAE27P APPROVED pseudo HGNC:35010 INFERRED 2300518 TRE-CTC13-1 transfer RNA-Glu (CTC) 13-1 2 2 q11.1 90534194 90534265 + 96217194 96217265 - 18984615 100189459 AC009237;HG983771;NG_008516 TRNAE31P APPROVED pseudo HGNC:35031 INFERRED 2300527 TRE-CTC14-1 transfer RNA-Glu (CTC) 14-1 8 8 8 q13.2 66069068 66069142 + 70072340 70072414 + 69160105 69160179 + 18984615 100189450 ABBA01041917;AF201337;AMYH02018150;HG983772;NG_008506 TRNAE28P APPROVED pseudo HGNC:35020 INFERRED 2300450 TRE-CTC15-1 transfer RNA-Glu (CTC) 15-1 2 2 p13.3 71124178 71124250 - 71273488 71273560 - 18984615 100189527 AC007881;HG983773;NG_008585 TRNAE41P APPROVED pseudo HGNC:35104 INFERRED 2300864 TRE-CTC17-1 transfer RNA-Glu (CTC) 17-1 MT 1 1 18984615 100189113 AL109948;HG983775 TRNAE14 APPROVED trna HGNC:34675 2300485 TRE-CTC18-1 transfer RNA-Glu (CTC) 18-1 X X p11.22 55349937 55350008 - 51306112 51306183 - 18984615 100189492 AL390060;HG983776;NG_008550 TRNAE37P APPROVED pseudo HGNC:35067 INFERRED 2300449 TRE-CTC16-1 transfer RNA-Glu (CTC) 16-1 12 12 12 q24.21 1058 1130 + 114386545 114386617 - 113948740 113948812 - 18984615 100189528 ABBA01019968;AC090669;AMYH02027247;HG983774;NG_008586 TRNAE42P APPROVED pseudo HGNC:35105 INFERRED 2300970 TRE-CTC3-1 transfer RNA-Glu (CTC) 3-1 MT 1 1 18984615 100189007 AL354833;HG983761 TRNAE4 APPROVED trna HGNC:34564 2300568 TRE-CTC2-1 transfer RNA-Glu (CTC) 2-1 1;MT 1 249168447 249168518 + 248874248 248874319 + 18984615 100189409 ABBA01002094;AL672294;AMYH02003156;HG983760 TRNAE24 APPROVED trna HGNC:34978 MODEL 2300471 TRE-CTC4-1 transfer RNA-Glu (CTC) 4-1 13 13 13 q21.1 39412961 39413032 - 58458550 58458621 - 57884416 57884487 - 18984615 100189506 ABBA01037015;AL355136;AMYH02028113;HG983762;NG_008564 TRNAE39P APPROVED pseudo HGNC:35081 INFERRED 2300741 TRE-CTC5-1 transfer RNA-Glu (CTC) 5-1 MT 1 1 18984615 100189236 AC068522;HG983763 TRNAE17 APPROVED trna HGNC:34799 2300486 TRE-CTC7-1 transfer RNA-Glu (CTC) 7-1 2 2 q24.1 153354956 153355027 - 159738171 159738242 - 18984615 100189491 AC064843;HG983765;NG_008549 TRNAE36P APPROVED pseudo HGNC:35065 INFERRED 2300560 TRE-CTC6-1 transfer RNA-Glu (CTC) 6-1 MT 1 1 18984615 100189417 AC023421;HG983764 TRNAE25 APPROVED trna HGNC:34986 2300933 TRE-CTC8-1 transfer RNA-Glu (CTC) 8-1 MT 1 1 18984615 100189044 AF186996;HG983766 TRNAE9 APPROVED trna HGNC:34603 2300483 TRE-CTC9-1 transfer RNA-Glu (CTC) 9-1 2 2 2 q23.3 144833503 144833575 + 151219277 151219349 + 150362763 150362835 + 18984615 100189494 ABBA01004754;AC093738;AMYH02004966;HG983767;NG_008552 TRNAE38P APPROVED pseudo HGNC:35069 INFERRED 2300644 TRE-TTC1-1 transfer RNA-Glu (TTC) 1-1 13;MT 13 41634874 41634945 - 41060738 41060809 - 18984615 100189333 ABBA01021283;AL157877;AMYH02027917;HG983777 TRNAE20 APPROVED trna HGNC:34901 MODEL 2300559 TRE-TTC1-2 transfer RNA-Glu (TTC) 1-2 2;MT 2 131094701 131094772 - 130337128 130337199 - 18984615 100189418 ABBA01017957;AC132479;AMYH02004775;HG983778 TRNAE26 APPROVED trna HGNC:34987 MODEL 2300523 TRE-TTC10-1 transfer RNA-Glu (TTC) 10-1 1 1 1 q21.2 2672 2744 + 149278785 149278857 - 145176939 145177011 + 18984615 100189454 AC241585;AL356957;HG983789;NG_008510 TRNAE29P APPROVED pseudo HGNC:35025 INFERRED 2300848 TRE-TTC11-1 transfer RNA-Glu (TTC) 11-1 MT 1 1 18984615 100189129 AL359400;HG983790 TRNAE15 APPROVED trna HGNC:34691 2300977 TRE-TTC12-1 transfer RNA-Glu (TTC) 12-1 MT 1 1 18984615 100189000 AL137157;HG983791 TRNAE3 APPROVED trna HGNC:34557 2300923 TRE-TTC13-1 transfer RNA-Glu (TTC) 13-1 MT 1 1 18984615 100189054 AC104135;HG983792 TRNAE10 APPROVED trna HGNC:34613 735791 TRDN triadin This gene encodes an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and single nucleotide polymorphisms in this gene may be markers for IgA nephritis. [provided by RefSeq, Oct 2011] 6 6 6 q22.31 124281651 124701991 - 123537484 123958428 - 123216339 123637283 - 1580863;6480464;7327229;7327227;8699517;7240710;8554872 17400717;22422768 10212196;10531621;10748065;11026130;11069905;11113462;11504710;11741309;12477932;12480542;12659871;14638677;15840729;17081983;17526652;17569730;18025088;19403607;19567751;19890582;20301466;20379614;20414141;7588753;7721813;8889548;9287354;9890886 10345 H0Y313;H0Y6P0;H7BY47;H9ME53;Q13061;Q5SWK9;Q68D40;Q8IVK2 AA401295;ABBA01025970;ABBA01025971;ABBA01025972;ABBA01025973;ABBA01025974;ABBA01025975;ABBA01025976;AI371054;AI375093;AJ489257;AK291867;AK307619;AL133257;AL357352;AL445259;AL603902;AL603911;AMYH02014413;AMYH02014414;AMYH02014415;AMYH02014416;AMYH02014417;AMYH02014418;BC012590;BC029393;BC054863;BC057222;BC070290;BC139910;BE646014;BM678702;CH471051;CR749591;JN900469;NG_030438;NM_001251987;NM_001256020;NM_001256021;NM_001256022;NM_006073;U18985;XM_006715299;XM_006715300;XM_006715301;XM_006715302;XM_006715303;XM_006715304;XM_006715305;XM_006715306;XM_006715307;XM_006715308;XM_006715309;XM_006715310;XM_006715311;XM_006715312;XM_006715313;XM_006715314;XM_006715315;XM_006715316;XM_006715317;XM_006715318;XR_427959;XR_427960 AAA75315;AAH29393;AAH57222;AAH70290;AAI39911;AAI67789;AEW10557;BAF84556;CAD33526;CAH18390;EAW48157;NP_001238916;NP_001242949;NP_001242950;NP_001242951;NP_006064;Q13061;XP_006715362;XP_006715363;XP_006715364;XP_006715365;XP_006715366;XP_006715367;XP_006715368;XP_006715369;XP_006715370;XP_006715371;XP_006715372;XP_006715373;XP_006715374;XP_006715375;XP_006715376;XP_006715377;XP_006715378;XP_006715379;XP_006715380;XP_006715381 Hs.144744 1667402;1667753;1697588;1720587;1720865;1726509;1727767;1735592;1751717;1752637;1786184;2117501;2154831;2169974;2186390 D6S1107E;D6S1128E;G59249;G59260;G62635;G63149;RH102304;RH35867;SHGC-105753;SHGC-106448;SHGC-35487;SHGC-54225;SHGC-58014;SHGC-89119;WI-11154 CPVT5;DKFZp779I2253;MGC88285;TDN;TRISK;TRISK51 OTTHUMP00000017124;dJ166D18.1 (triadin) APPROVED protein-coding ENSG00000186439 HGNC:12261 04474 603283;615441 REVIEWED 2300492 TRE-TTC14-1 transfer RNA-Glu (TTC) 14-1 1 1 1 q21.1 122434580 122434651 - 146550178 146550249 + 147078630 147078701 + 18984615 100189485 ABBA01004397;AC241584;AL596177;HG983793;NG_008543 TRNAE34P APPROVED pseudo HGNC:35058 INFERRED 2300493 TRE-TTC15-1 transfer RNA-Glu (TTC) 15-1 6 6 6 q26 163939916 163939984 - 163210014 163210082 - 162788982 162789050 - 18984615 100189484 ABBA01015120;AL354942;AMYH02014923;HG983794;NG_008542 TRNAE33P APPROVED pseudo HGNC:35057 INFERRED 2300767 TRE-TTC16-1 transfer RNA-Glu (TTC) 16-1 MT 1 1 18984615 100189210 AL591493;HG983795 TRNAE16 APPROVED trna HGNC:34773 2300914 TRE-TTC2-2 transfer RNA-Glu (TTC) 2-2 15;MT 15 26327381 26327452 - 26082234 26082305 - 18984615 100189063 ABBA01048702;AC100836;AMYH02030103;HG983780 TRNAE11 APPROVED trna HGNC:34622 MODEL 2300947 TRE-TTC2-1 transfer RNA-Glu (TTC) 2-1 13;MT 13 45492062 45492133 - 44917927 44917998 - 18984615 100189030 ABBA01021226;AL354816;AMYH02027962;HG983779 TRNAE7 APPROVED trna HGNC:34589 MODEL 8663267 TRE-TTC4-1 transfer RNA-Glu (TTC) 4-1 MT 1 1 18984615 103456506 HG983782 TRNAE44 trna HGNC:38581 1349868 TRE-TTC3-1 transfer RNA-Glu (TTC) 3-1 1;MT 1 p36 17199078 17199149 + 16872583 16872654 + 18984615;2912885;6134271 7193 AMYH02000387;BX284668;HG983781;J00309 TRE;TRNAE1;TRNE trna glutamic acid APPROVED trna HGNC:12265 180640 MODEL 2300570 TRE-TTC4-2 transfer RNA-Glu (TTC) 4-2 1;MT 1 161391883 161391954 - 161422093 161422164 - 18984615 100189407 ABBA01016588;AC243898;AL592295;HG983783 TRNAE23 APPROVED trna HGNC:34976 MODEL 2300512 TRE-TTC6-1 transfer RNA-Glu (TTC) 6-1 1 1 1 q21.2 121039839 121039910 - 147781030 147781101 - 148308922 148308993 - 18984615 100189465 ABBA01053732;AC245100;AL592207;HG983785;NG_008523 TRNAE32P APPROVED pseudo HGNC:35037 INFERRED 2300946 TRE-TTC5-1 transfer RNA-Glu (TTC) 5-1 MT 1 1 18984615 100189031 AL451067;HG983784 TRNAE8 APPROVED trna HGNC:34590 2300909 TRE-TTC8-1 transfer RNA-Glu (TTC) 8-1 MT 1 1 18984615 100189068 AL358813;HG983787 TRNAE12 APPROVED trna HGNC:34627 2300520 TRE-TTC7-1 transfer RNA-Glu (TTC) 7-1 1 1 1 q21.2 121320970 121321041 + 149161628 149161699 - 143666988 143667059 - 18984615 100189457 ABBA01010824;AC239800;AL356957;HG983786;NG_008514 TRNAE30P APPROVED pseudo HGNC:35028 INFERRED 2300459 TRE-TTC9-1 transfer RNA-Glu (TTC) 9-1 2 2 2 q33.2 197983962 197984032 - 204229131 204229201 - 203364408 203364478 - 18984615 100189518 ABBA01062611;AC080075;AMYH02005595;HG983788;NG_008576 TRNAE40P APPROVED pseudo HGNC:35093 INFERRED 736593 TREH trehalase (brush-border membrane glycoprotein) This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 q23.3 115689705 115711140 - 118528942 118550381 - 118658232 118679672 - 1580863;6480464;6907045;7240710;8699517 12477932;14702039;19056867;19126402;20379614;20881960;22369735;22951725;23468175;2619709;4737205;8125298;8773341;9427547 11181 B7WPJ2;O43280 AB000824;ABBA01039701;AK091981;AK223140;AK223143;AK309565;AMYH02025647;AMYH02025648;AP000941;AP002954;BC109206;CH471065;DA626089;KF510359;KF511127;NG_023321;NM_001301065;NM_007180;XM_005277678 AAI09207;BAA24381;BAD96860;BAD96863;BAG52455;EAW67408;EAW67409;NP_001287994;NP_009111;O43280;XP_005277735 Hs.129712 1716835;1737945;2134135;2164642;2168089 D11S2274E;D11S3550;D11S797;RH11874;RH121711 MGC129621;TRE;TREA OTTHUMP00000232834;OTTHUMP00000232835;OTTHUMP00000232836;alpha,alpha-trehalase;alpha,alpha-trehalose glucohydrolase;trehalase APPROVED protein-coding ENSG00000118094 HGNC:12266 02038 275360;612119 REVIEWED 1320401 TREM2 triggering receptor expressed on myeloid cells 2 This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012] 6 6 6 p21.1 42678948 42683624 - 41126244 41130924 - 41158506 41163186 - 6480464;7240710;8554872;8699517 10799849;11602640;12080485;12477932;12645956;12754369;12913093;12925681;15489334;15966270;16505336;16715077;17530208;18546367;18551625;19019460;19079182;19230638;19457124;19913121;20301376;20421649;20628086;20640189;21834902;22939635;23150908;23150934;23380991;23383108;23391427;23407992;23533697;23582655;23721075;23759145;23800361;23855982;23855984;23870839;24002183;24078628;24119542;24131187;24139279;24184202;24355566;24535663 54209 Q5TCX1;Q9NZC2 AB062787;ABBA01050760;AF213457;AK312215;AL133404;AMYH02013602;BC018284;BC032362;CH471081;DQ217932;NG_011561;NM_001271821;NM_018965;XM_006715116 AAF69824;AAH32362;ABB01002;ABM82236;ABM85420;BAB78736;BAG35148;EAX04032;EAX04033;EAX04034;NP_001258750;NP_061838;Q9NZC2;XP_006715179 Hs.435295 1678543 RH94034 TREM-2;Trem2a;Trem2b;Trem2c OTTHUMP00000016368;OTTHUMP00000016369;triggering receptor expressed on monocytes 2;triggering receptor expressed on myeloid cells 2a APPROVED protein-coding ENSG00000095970 HGNC:17761 05473 221770;605086 REVIEWED 1351303 TREML3P triggering receptor expressed on myeloid cells-like 3, pseudogene TREML3 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008] 6 6 6 p21.1 42728989 42738382 - 41176292 41185685 - 41208554 41217947 - 6480464 12645956 340206 ABBA01050760;AF534825;AL391903;AMYH02013603;NR_027256 AAO15023 Hs.93698 1755829;1771698;2173103 RH46666;SHGC-142671;WI-18072 TLT3;TREML3 APPROVED pseudo ENSG00000184106 HGNC:30806 609716 VALIDATED 1353340 TREML2 triggering receptor expressed on myeloid cells-like 2 TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008] 6 6 6 p21.1 42710254 42721629 - 41157552 41168925 - 41189749 41201187 - 6480464 12477932;12645956;12975309;14574404;14702039;16670310;17192395;18650384;19544488;20379614;24162737 79865 Q5T2D2 ABBA01050760;AF534824;AJ420509;AK023755;AL133404;AL391903;AMYH02013603;AY358171;BC125078;BC125079;CH471081;NM_024807 AAI25079;AAI25080;AAO15022;AAQ88538;BAB14668;EAX04035;EAX04036;NP_079083;Q5T2D2 Hs.164797 2159758 SHGC-34265 C6orf76;FLJ13693;MGC149715;MGC149716;TLT-2;TLT2;dJ238O23.1 OTTHUMP00000017974;trem-like transcript 2 protein;triggering receptor expressed on myeloid cells-like protein 2 APPROVED protein-coding ENSG00000112195 HGNC:21092 11646 609715 VALIDATED 1351289 TREML5P triggering receptor expressed on myeloid cells-like 5, pseudogene 6 6 6 p21.1 42770566 42770780 + 41217115 41217327 + 41249377 41249589 + 12645956 221438 ABBA01050760;AF534827;AL391903;AMYH02013603;NR_002794 Hs.639392 TLT5;TREML2P;TREML2P1 APPROVED pseudo HGNC:30808 PROVISIONAL 1344660 TREML1 triggering receptor expressed on myeloid cells-like 1 This gene encodes a member of the triggering receptor expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 single Ig domain orphan receptor localized to the alpha-granule membranes of platelets. The encoded protein is involved in platelet aggregation, inflammation, and cellular activation and has been linked to Gray platelet syndrome. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012] 6 6 6 p21.1 42670032 42674760 - 41116998 41122087 - 41149260 41154349 - 6480464;8554872 12393607;12466851;12477932;12645956;12665801;12975309;14574404;15100151;15128762;15489334;16505478;17549298;18612537;19230638;19436112;20093931;22283904;22551551;23867815 340205 Q86YW5 ABBA01050760;AF508193;AF534822;AF534823;AL133404;AMYH02013602;AY358357;BC100944;BC100945;BC100946;BQ023322;CH471081;DW009745;NM_001271807;NM_001271808;NM_178174;XM_006715085 AAI00945;AAI00946;AAI00947;AAO15020;AAO15021;AAO37827;AAQ88723;EAX04029;EAX04030;EAX04031;NP_001258736;NP_001258737;NP_835468;Q86YW5;XP_006715148 Hs.117331 2178343 STS-R02728 GLTL1825;MGC119173;PRO3438;TLT-1;TLT1;dJ238O23.3 OTTHUMP00000017858;trem-like transcript 1 protein;triggering receptor expressed on myeloid cells-like protein 1 APPROVED protein-coding ENSG00000161911 HGNC:20434 11645 609714 REVIEWED 1319823 TREM1 triggering receptor expressed on myeloid cells 1 This gene encodes a receptor belonging to the Ig superfamily that is expressed on myeloid cells. This protein amplifies neutrophil and monocyte-mediated inflammatory responses triggered by bacterial and fungal infections by stimulating release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011] 6 6 6 p21.1 42797142 42807885 - 41242999 41254457 - 41267386 41286719 - 1580863;6480464 10799849;11323674;11602640;11922939;12477932;12645956;12646648;12792857;14574404;14656437;15067076;15309732;15351648;15489334;15585833;16344560;16437719;16733861;17008237;17202378;17277102;17336301;17452516;17505044;17558349;17634956;17659879;17729416;17785845;18008257;18317529;18396215;18628981;18634145;18656898;18818748;19019335;19109693;19230638;19251433;19396532;19479878;19484952;19527514;19591072;19596984;19913121;19917159;19923060;20140262;20156945;20237496;20375613;20628086;20640189;21148811;21306476;21393102;21421043;21555403;21701149;21763322;21855288;21906983;21910175;21942576;21967868;21976106;22179409;22417086;22422501;22459945;22642593;22721842;22798017;22829716;22996209;23046618;23364598;23383108;23414215;23436478;23468854;23571837;23734253;23861562;23880194;24012914;24012964;24261769;24289157;24290866;24465168;24605677;8125298 54210 K7EKM5;Q38L15;Q9NP99 ABBA01050760;AF196329;AF287008;AK223264;AK292162;AK301519;AK313104;AL391903;AMYH02013603;AY074783;BC017773;CH471081;CS265711;DA362458;DA938757;DQ217941;KF458151;NG_029525;NM_001242589;NM_001242590;NM_018643;XM_006715117 AAF71694;AAF90197;AAH17773;AAL74018;ABB01010;ABM82935;ABM86124;BAD96984;BAF84851;BAG35927;BAG63024;CAJ78384;EAX04043;EAX04044;NP_001229518;NP_001229519;NP_061113;Q9NP99;XP_006715180 Hs.283022 1712881;2117831 RH121075;RH48773 CD354;TREM-1 OTTHUMP00000016370;triggering receptor expressed on monocytes 1;triggering-receptor TREM1 APPROVED protein-coding ENSG00000124731 HGNC:17760 05472 605085 REVIEWED 1347933 TREML4 triggering receptor expressed on myeloid cells-like 4 FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); chloroprene (ortholog); choline (ortholog) 6 6 6 p21.1 42749509 42759573 + 41196062 41206120 + 41228324 41238382 + 6480464 12477932;12645956;12975309;14702039;20237496;24975946 285852 H7C4X5;Q6UXN2 ABBA01050760;AF534826;AK090633;AL391903;AMYH02013603;AY358271;BC101780;BC105101;BC143652;CH471081;NM_198153;XM_005249025 AAI01781;AAI05102;AAI43653;AAQ88638;EAX04038;NP_937796;Q6UXN2;XP_005249082 Hs.434181 MGC126829;TLT-4;TLT4 OTTHUMP00000216800;OTTHUMP00000216802;TREM like transcript 4;trem-like transcript 4 protein;triggering receptor expressed on myeloid cells-like protein 4 protein-coding ENSG00000188056 HGNC:30807 15548 614664 VALIDATED 1349335 TRESMCR TRE oncogene, Smith Magenis syndrome chromosome region 10615134 27169 HGNC:12268 1605132 TRF-GAA1-2 transfer RNA-Phe (GAA) 1-2 12;MT 12 q24.31 125412389 125412461 - 124927843 124927915 - 1191278;18984615 100009606 ABBA01060362;AC126309;AMYH02027479;HG983961;K00350 TRNAF2 APPROVED trna HGNC:33259 MODEL 6893025 TRERNA1 translation regulatory long non-coding RNA 1 20 20 q13 48657244 48658166 - 50040707 50041629 - 20887892;23974796 100887755 ABBA01052768;AI654216;AI968488;AL121712;AMYH02037228;BX118093;NR_051976 Hs.195705 LINC00651 treRNA APPROVED ncrna HGNC:44307 VALIDATED 2300562 TRF-GAA1-1 transfer RNA-Phe (GAA) 1-1 11;MT 11 59324970 59325042 - 59557497 59557569 - 18984615 100189415 ABBA01021502;AMYH02024865;AP003778;HG983960 TRNAF11 APPROVED trna HGNC:34984 MODEL 2300726 TRF-GAA1-3 transfer RNA-Phe (GAA) 1-3 13;MT 13 95201904 95201976 - 94549650 94549722 - 18984615 100189251 ABBA01027210;AL139318;AMYH02028502;HG983962 TRNAF6 APPROVED trna HGNC:34814 MODEL 1316196 TRERF1 transcriptional regulating factor 1 This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] 6 6 6 p21.1-p12.1 43745111 43972220 - 42192669 42419943 - 42224931 42452205 - 1580863;6480464;8554872 11349124;12101186;12530663;14574404;14702039;15072559;15302935;15899840;17015480;19322201;19471022;19913121;20379614;20628086;21258344;21890473;21906983;21987572;23667531;23752268;9259413 55809 Q05GC8;Q96PN7 ABBA01050729;ABBA01050730;ABBA01050731;ABBA01050732;AF111801;AF297872;AJ277275;AJ277276;AK002096;AK127493;AK308473;AL096814;AL138735;AL450325;AM404182;AM404183;AM404259;AMYH02013620;AMYH02013621;AMYH02013622;BC047920;CH471081;CS300664;KF458150;KF458152;NM_001297573;NM_001297574;NM_033502;XM_005249223;XM_006715143;XM_006715144;XM_006715145;XM_006715146;XM_006715147;XM_006715148;XM_006715149 AAI56204;AAL01653;AAL39003;BAA92082;BAG54514;CAB88206;CAB88207;CAK32328;CAL49295;CAL49296;CAL49297;EAX04088;EAX04089;EAX04090;EAX04091;EAX04092;EAX04093;NP_001284502;NP_001284503;NP_277037;Q96PN7;XP_005249280;XP_006715206;XP_006715207;XP_006715208;XP_006715209;XP_006715210;XP_006715211;XP_006715212 Hs.485392 1649763;1681344;1689255;1727115;2115379;2127243;5014961;5022576 D1S1361;D6S1463;G19200;G31121;G62961;RH93050;RH94356;SGC38173 BCAR2;FLJ21198;HSA277276;RAPA;RP1-139D8.5;TREP132;TReP-132;dJ139D8.5;rapa-1;rapa-2 OTTHUMP00000016399;OTTHUMP00000016400;OTTHUMP00000016401;breast cancer anti-estrogen resistance 2;transcriptional regulating protein 132;transcriptional-regulating factor 1;transcriptional-regulating protein 132;zinc finger protein rapa;zinc finger transcription factor TReP-132 APPROVED protein-coding ENSG00000124496 HGNC:18273 11647 610322 REVIEWED 1354135 TREX2 three prime repair exonuclease 2 This gene encodes a nuclear protein with 3' to 5' exonuclease activity. The encoded protein participates in double-stranded DNA break repair, and may interact with DNA polymerase delta. [provided by RefSeq, Nov 2012] X X X q28 152943888 152945655 - 152710178 152711945 - 153444720 153446487 - 5490977;6480464 20973890 10391904;11076863;11163772;11256614;11278605;11279105;11988770;12477932;12500544;12806015;15489334;15489336;15581481;15596820;15661738;16189514;16381901;16395595;17426129;17909011;18092167;18534978;19094998;19321497;21079684;21546543;22027841;23591820;24896180;9099879 11219 Q06S70;Q9BQ50 ABBA01045398;AF151107;AMYH02040833;AW296654;CH471172;DQ145722;NG_029986;NM_080701;U82695 AAD48776;AAI56245;AAI57022;AAZ38719;ABM82688;EAW72870;NP_542432;Q9BQ50 Hs.644635 2140925;2167932 A002T09;DXS6999E 3'-5' exonuclease TREX2 long form;OTTHUMP00000025920;OTTHUMP00000025922 APPROVED protein-coding ENSG00000183479 HGNC:12270 02299 300370 REVIEWED 2300671 TRF-GAA1-4 transfer RNA-Phe (GAA) 1-4 19;MT 19 1383361 1383433 - 1383362 1383434 - 18984615 100189306 ABBA01002641;AC005329;AMYH02035148;HG983963 TRNAF10 APPROVED trna HGNC:34873 MODEL 2300840 TRF-GAA1-5 transfer RNA-Phe (GAA) 1-5 6;MT 6 28758499 28758571 - 28790722 28790794 - 18984615 100189137 ABBA01038026;AL662890;AL844539;AL901607;AMYH02013402;BX088523;BX908720;CR753651;CR759954;HG983964 TRNAF3 APPROVED trna HGNC:34699 MODEL 2300723 TRF-GAA1-6 transfer RNA-Phe (GAA) 1-6 6;MT 6 28949449 28949521 - 28981672 28981744 - 18984615 100189254 ABBA01038029;AL662791;AL662865;AL929561;AMYH02013404;BX248109;BX927167;CR759835;CR759957;HG983965 TRNAF7 APPROVED trna HGNC:34817 MODEL 2300480 TRF-GAA10-1 transfer RNA-Phe (GAA) 10-1 1 1 q21.2 933 1004 - 149672905 149672976 - 18984615 100189497 AC241377;AL358813;HG983974;NG_008555 TRNAF16P APPROVED pseudo HGNC:35072 INFERRED 2300505 TRF-GAA11-1 transfer RNA-Phe (GAA) 11-1 6 6 6 p22.1 30301246 30301318 - 28694855 28694927 - 28727078 28727150 - 18984615 100189472 ABBA01038025;AL390196;AL671879;AMYH02013398;BX088523;HG983975;NG_008530 1730018;7187264 D6S248 TRNAF15P APPROVED pseudo HGNC:35045 INFERRED 2300506 TRF-GAA12-1 transfer RNA-Phe (GAA) 12-1 8 8 8 q24.13 120459764 120459836 - 124270725 124270797 - 123258485 123258557 - 18984615 100189471 ABBA01037871;AC068228;AMYH02018703;HG983976;NG_008529 TRNAF14P APPROVED pseudo HGNC:35044 INFERRED 2300807 TRF-GAA3-1 transfer RNA-Phe (GAA) 3-1 6;MT 6 28775610 28775682 - 28807833 28807905 - 18984615 100189170 ABBA01038027;AL662890;AL669978;AL844539;AMYH02013403;BX470194;BX908720;CR753651;CR759954;HG983967 1340655;1760317;7186392 D6S1624;SHGC-170373 TRNAF5 APPROVED trna HGNC:34732 MODEL 2300684 TRF-GAA4-1 transfer RNA-Phe (GAA) 4-1 6;MT 6 28791093 28791166 - 28823316 28823389 - 18984615 100189293 ABBA01038028;AL662890;AL669978;AL844539;AMYH02013403;BX470194;BX908720;CR753651;CR759954;CR936879;HG983968 TRNAF9 APPROVED trna HGNC:34859 MODEL 2300832 TRF-GAA5-1 transfer RNA-Phe (GAA) 5-1 6;MT 6 28732164 28732236 + 28764387 28764459 + 18984615 100189145 ABBA01038026;AL662890;AL901607;AMYH02013401;BX088523;BX908720;CR753651;HG983969 TRNAF4 APPROVED trna HGNC:34707 MODEL 2300715 TRF-GAA6-1 transfer RNA-Phe (GAA) 6-1 6;MT 6 28731374 28731447 - 28763597 28763670 - 18984615 100189262 ABBA01038026;AL662890;AL901607;AMYH02013401;BX088523;BX908720;CR753651;HG983970 TRNAF8 APPROVED trna HGNC:34825 MODEL 2300556 TRF-GAA7-1 transfer RNA-Phe (GAA) 7-1 MT 1 1 18984615 100189421 AL031229;HG983971 TRNAF12 APPROVED trna HGNC:34990 2300531 TRF-GAA8-1 transfer RNA-Phe (GAA) 8-1 6 6 6 q14.1 80055285 80055357 - 79668010 79668082 - 78958293 78958365 - 18984615 100189446 ABBA01040399;AL356776;AMYH02013965;HG983972;NG_008502 TRNAF13P APPROVED pseudo HGNC:35016 INFERRED 2300444 TRF-GAA9-1 transfer RNA-Phe (GAA) 9-1 1 1 1 q21.2 933 1004 - 149287359 149287430 - 143792134 143793660 - 18984615 100189533 AC239800;AL356957;HG983973;NG_008591 TRNAF17P APPROVED pseudo HGNC:35110 INFERRED 1323748 TREX1 three prime repair exonuclease 1 This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] 3 3 3 p21.31 48458088 48459903 + 48506919 48509044 + 48465520 48467645 + 1580482;1580863;6480464;7240710;8554872;8699517 11721054 10391904;10393201;10827106;11278605;11279105;12477932;12624136;14702039;15489334;16189514;16344560;16713580;16818237;16845398;17081983;17224176;17293595;17355961;17357087;17440703;17660818;17660820;17846997;18045533;18092167;18406216;18583934;18724932;18805785;18815223;19120481;19266025;19362700;19442247;19478477;19617005;20192983;20301334;20301648;20496420;20511593;20799324;20871604;21103663;21270825;21478870;21808053;21937424;22071149;22367235;22526516;22829693;22893130;23251661;23578789;23602593;23773365;23881107;23979357;24034389;24224166;24270665;24300241;24501781;24616097;24813208;3239950;8206943;8592332;9851434 11277 C9J052;Q5TZT0;Q9NSU2 ABBA01024647;AC104448;AC134772;AF151105;AF483777;AJ243797;AK315196;AL137745;AMYH02006718;BC019863;BC023630;BQ933154;BT020052;BT020053;CH471055;CR457119;DA364183;DA850044;NG_009820;NM_007248;NM_016381;NM_033629 AAD48774;AAH23630;AAI60084;AAL82504;AAV38855;AAV38856;ACE87047;ACE87729;BAG37636;CAB50866;CAG33400;EAW64883;NP_009179;NP_057465;NP_338599;Q9NSU2 Hs.707026;Hs.713742;Hs.744646 1338635;1797000;1848310;2135800;2165349 D3S3563;STS-Z41083;TREX1_1109;WI-11814;WI-21042 AGS1;CRV;DKFZp434J0310;DRN3;HERNS 3' repair exonuclease 1;3'-5' exonuclease TREX1;DNase III;OTTHUMP00000210132;OTTHUMP00000210133;OTTHUMP00000210134;OTTHUMP00000210135;deoxyribonuclease III;deoxyribonuclease III, dnaQ/mutD-like;three-prime repair exonuclease 1 APPROVED protein-coding HGNC:12269 09423 152700;192315;225750;606609;610448 REVIEWED 8663031 TRG-CCC1-1 transfer RNA-Gly (CCC) 1-1 MT 1 1 18984615 103456505 HG983796 TRNAG37 trna HGNC:38580 2300679 TRG-CCC1-2 transfer RNA-Gly (CCC) 1-2 1;MT 1 17188416 17188486 + 16861921 16861991 + 18984615 100189298 AMYH02000387;BX284668;HG983797 TRNAG28 APPROVED trna HGNC:34864 MODEL 1605133 TRF-GAA2-1 transfer RNA-Phe (GAA) 2-1 11;MT 11 q12.1 59333853 59333925 - 59566380 59566452 - 18984615;3678837 100009605 ABBA01021503;AMYH02024865;AP000442;HG983966;M17622 TRNAF1 APPROVED trna HGNC:33255 MODEL 7247915 TRG-AS1 T cell receptor gamma locus antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 7 7 7 p14 38369042 38406233 + 38380983 38418238 + 38341577 38378637 + 8554872 100506776 ABBA01056929;AC006033;AC007245;AC244625;AK125646;AK130649;BQ002637;CH236951;NR_040085 EAL23987 Hs.173034 ncrna HGNC:48974 VALIDATED 736899 TRG T cell receptor gamma locus T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T cell development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be incapable of encoding a protein and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed in T cells derived from patients with T cell leukemia and ataxia telangiectasia. [provided by RefSeq, Jul 2008] 7 7 7 p14 38264061 38395484 - 38279625 38407656 - 38240024 38368055 - 6480464;8554872 10430935;11459064;11833498;12088111;12477932;12707047;12865322;12918704;15052681;15905344;16307908;16424183;1655357;18440637;18495780;18624305;19446661;19536290;19583687;19756574;19843947;20553737;20592281;20848640;20952657;21753698;21872828;21928126;21982596;22045985;22078709;22171570;22180442;23000520;23312956;23336327;23770719;23878218;23956982;24076636;2526744;2527426;2879283;2949984;2961573;2961609;2969332;3102973;3458221 6965 ABBA01056926;ABBA01056927;ABBA01056928;ABBA01056929;AC006033;AC007245;AC244625;AF159056;CH236951;NG_001336 1661948;1665028;1673087;1744071;1769551;2121646;2142657;7187376 D7S2865;GDB:1318008;GDB:385545;GDB:4584962;RH11095;STS-R68651;TCRG TCRG;TRG@ T-cell antigen receptor, gamma polypeptide;T-cell rearranging gene, gamma;T-cell receptor, gamma cluster;t-cell receptor gamma chain APPROVED protein-coding HGNC:12271 186970 REVIEWED 1351037 TRG-CCC2-1 transfer RNA-Gly (CCC) 2-1 16;MT 16 p13.3 686736 686806 - 636736 636806 - 18984615 64717 ABBA01030360;AL022341;AMYH02031198;HG983798 TRG4;TRNAG4 APPROVED trna HGNC:14183 MODEL 2300746 TRG-CCC2-2 transfer RNA-Gly (CCC) 2-2 2;MT 2 70476123 70476193 - 70248991 70249061 - 18984615 100189231 ABBA01075531;AC016700;AMYH02004038;HG983799 TRNAG22 APPROVED trna HGNC:34794 MODEL 2300700 TRG-CCC3-1 transfer RNA-Gly (CCC) 3-1 17;MT 17 19764175 19764245 + 19860862 19860932 + 18984615 100189277 ABBA01054593;AC015726;AMYH02033174;HG983800 TRNAG26 APPROVED trna HGNC:34841 MODEL 2300491 TRG-CCC4-1 transfer RNA-Gly (CCC) 4-1 1 1 p36.13 16874160 16874232 - 16547665 16547737 - 18984615 100189486 AC244454;AL355149;HG983801;NG_008544 TRNAG36;TRNAV35P APPROVED pseudo HGNC:35059 INFERRED 2300932 TRG-CCC5-1 transfer RNA-Gly (CCC) 5-1 1;MT 1 17053780 17053850 + 16727285 16727355 + 18984615 100189045 AL021920;AMYH02000384;HG983802 1725419 RH119105 TRNAG10 APPROVED trna HGNC:34604 MODEL 2300479 TRG-CCC6-1 transfer RNA-Gly (CCC) 6-1 1 1 q21.2 149680210 149680280 - 149708660 149708730 - 18984615 100189498 AC243772;AL358813;HG983803;NG_008556 TRNAG34P APPROVED pseudo HGNC:35073 INFERRED 2300725 TRG-GCC1-2 transfer RNA-Gly (GCC) 1-2 1;MT 1 161420467 161420537 + 161450677 161450747 + 18984615 100189252 AC243546;AL590385;HG983807 TRNAG23 APPROVED trna HGNC:34815 MODEL 2300611 TRG-GCC1-1 transfer RNA-Gly (GCC) 1-1 1;MT 1 161413094 161413164 + 161443304 161443374 + 18984615 100189366 AC244471;AL831711;HG983806 TRNAG30 APPROVED trna HGNC:34934 MODEL 2300519 TRG-CCC7-1 transfer RNA-Gly (CCC) 7-1 2 2 2 p25.1 11608602 11608673 + 11691827 11691898 + 11551701 11551772 + 18984615 100189458 ABBA01015652;AC011994;AMYH02003291;HG983804;NG_008515;NG_029429 TRNAG32P APPROVED pseudo HGNC:35030 INFERRED 2300747 TRG-GCC1-3 transfer RNA-Gly (GCC) 1-3 1;MT 1 161427898 161427968 + 161458108 161458178 + 18984615 100189230 AC243546;AC244471;AL590385;HG983808 TRNAG21 APPROVED trna HGNC:34793 MODEL 2300817 TRG-GCC1-4 transfer RNA-Gly (GCC) 1-4 1;MT 1 161435258 161435328 + 161465468 161465538 + 18984615 100189160 AC243546;AL590385;HG983809 TRNAG15 APPROVED trna HGNC:34722 MODEL 2300693 TRG-GCC1-5 transfer RNA-Gly (GCC) 1-5 21;MT 21 18827107 18827177 - 17454789 17454859 - 18984615 100189284 ABBA01057117;AMYH02037557;AP000952;HG983810 TRNAG27 APPROVED trna HGNC:34850 MODEL 2300597 TRG-GCC2-1 transfer RNA-Gly (GCC) 2-1 1;MT 1 161493637 161493707 - 161523847 161523917 - 18984615 100189380 ABBA01047318;AC243509;AL590385;HG983811 TRNAG31 APPROVED trna HGNC:34948 MODEL 2300992 TRG-GCC2-2 transfer RNA-Gly (GCC) 2-2 16;MT 16 q22.1 70812942 70813012 - 70779039 70779109 - 18984615 100188985 ABBA01010649;AC027281;AC244605;HG983812 TRNAG6 APPROVED trna HGNC:34533 MODEL 2300814 TRG-GCC2-3 transfer RNA-Gly (GCC) 2-3 16;MT 16 70823410 70823480 + 70789507 70789577 + 18984615 100189163 ABBA01010649;AC027281;AC244605;HG983813 TRNAG16 APPROVED trna HGNC:34725 MODEL 2300769 TRG-GCC2-5 transfer RNA-Gly (GCC) 2-5 2;MT 2 157257659 157257729 - 156401147 156401217 - 18984615 100189208 ABBA01004831;AC092686;AMYH02005031;HG983815 TRNAG19 APPROVED trna HGNC:34771 MODEL 1344258 TRG-GCC2-4 transfer RNA-Gly (GCC) 2-4 17;MT 17 p13.1 8029064 8029134 + 8125746 8125816 + 116197;18984615;2066114 7196 ABBA01054897;AC129492;AMYH02032919;HG983814;K00208 TRG2;TRNAG2 trna glycine 2 APPROVED trna HGNC:12273 610407 MODEL 2300663 TRG-GCC2-6 transfer RNA-Gly (GCC) 2-6 6;MT 6 27870686 27870756 - 27902908 27902978 - 18984615 100189314 ABBA01038011;AMYH02013390;HG983816;Z98744 TRNAG29 APPROVED trna HGNC:34881 MODEL 1347977 TRG-GCC3-1 transfer RNA-Gly (GCC) 3-1 16;MT 16 q22.1 70812114 70812184 - 70778211 70778281 - 18984615;3019833 7198 ABBA01010649;AC027281;AC244605;HG983817;M13661 TRG5;TRGL1;TRNAG5 trna glycine (gcc)-like 1 APPROVED trna HGNC:12282 MODEL 2300703 TRG-GCC4-1 transfer RNA-Gly (GCC) 4-1 1;MT 1 161450356 161450426 + 161480566 161480636 + 18984615 100189274 ABBA01047319;AC243546;AL590385;HG983818 TRNAG25 APPROVED trna HGNC:34838 MODEL 2300757 TRG-GCC5-1 transfer RNA-Gly (GCC) 5-1 16;MT 16 70822597 70822667 + 70788694 70788764 + 18984615 100189220 ABBA01010649;AC027281;AC244605;HG983819 TRNAG20 APPROVED trna HGNC:34783 MODEL 8693546 TRG-CCC8-1 transfer RNA-Gly (CCC) 8-1 MT 1 1 18984615 103539958 HG983805 trna HGNC:50798 2300896 TRG-GCC6-1 transfer RNA-Gly (GCC) 6-1 MT 1 1 18984615 100189081 AL360007;HG983820 TRNAG12 APPROVED trna HGNC:34641 1354437 TRG-TCC1-1 transfer RNA-Gly (TCC) 1-1 19;MT 19 p13.3 4724082 4724153 + 4724070 4724141 + 1457046;18984615 7197 ABBA01056049;AC005783;AMYH02035298;HG983821;X64281 TRG3;TRNAG3 APPROVED trna HGNC:12274 615303 MODEL 2300913 TRG-TCC2-1 transfer RNA-Gly (TCC) 2-1 1;MT 1 145397864 145397935 - 146037061 146037132 + 18984615 100189064 ABBA01005749;AC239799;AL355505;HG983822 TRNAG11 APPROVED trna HGNC:34623 MODEL 2300717 TRG-TCC2-2 transfer RNA-Gly (TCC) 2-2 1;MT 1 161417375 161417446 - 161447585 161447656 - 18984615 100189260 AL590385;HG983823 TRNAG24 APPROVED trna HGNC:34823 MODEL 2300836 TRG-TCC2-3 transfer RNA-Gly (TCC) 2-3 1;MT 1 q23.3 161424756 161424827 - 161454966 161455037 - 18984615 100189141 ABBA01136092;AC243546;AC244471;AL590385;HG983824 TRNAG13 APPROVED trna HGNC:34703 MODEL 2300789 TRG-TCC2-4 transfer RNA-Gly (TCC) 2-4 1;MT 1 161432166 161432237 - 161462376 161462447 - 18984615 100189188 AC243546;AL590385;HG983825 TRNAG17 APPROVED trna HGNC:34751 MODEL 2300938 TRG-TCC2-5 transfer RNA-Gly (TCC) 2-5 1;MT 1 161439547 161439618 - 161469757 161469828 - 18984615 100189039 AL590385;HG983826 TRNAG9 APPROVED trna HGNC:34598 MODEL 2300966 TRG-TCC2-6 transfer RNA-Gly (TCC) 2-6 1;MT 1 161500903 161500974 + 161531113 161531184 + 18984615 100189011 ABBA01047318;AC243509;AL590385;HG983827 TRNAG8 APPROVED trna HGNC:34570 MODEL 2300771 TRG-TCC3-1 transfer RNA-Gly (TCC) 3-1 17;MT 17 8124866 8124937 + 8221548 8221619 + 18984615 100189206 ABBA01054904;AC135178;AMYH02032923;HG983828 TRNAG18 APPROVED trna HGNC:34769 MODEL 2300980 TRG-TCC4-1 transfer RNA-Gly (TCC) 4-1 1;MT 1 161409961 161410032 - 161440171 161440242 - 18984615 100188997 ABBA01016588;AC244471;AL831711;HG983829 TRNAG7 APPROVED trna HGNC:34554 MODEL 2300466 TRG-TCC6-1 transfer RNA-Gly (TCC) 6-1 18 18 q21.31 52063708 52063779 + 55346177 55346248 + 18984615 100189511 AC027097;HG983831;NG_008569 TRNAG35P APPROVED pseudo HGNC:35086 INFERRED 2300517 TRG-TCC5-1 transfer RNA-Gly (TCC) 5-1 18 18 q21.31 52063708 52063779 + 55345854 55345925 + 18984615 100189460 AC027097;HG983830;NG_008517 TRNAG33P APPROVED pseudo HGNC:35032 VALIDATED 1347668 TRGJ1 T cell receptor gamma joining 1 6968 M12960 HGNC:12277 1344507 TRGJ2 T cell receptor gamma joining 2 6969 M12961 HGNC:12278 1349831 TRGJP T cell receptor gamma joining P 6970 M12950 HGNC:12279 1350195 TRGC1 T cell receptor gamma constant 1 FOUND IN integral component of membrane (inferred) 6966 P0CF51 M14996 1673087;7187376 D7S2865;TCRG HGNC:12275 186970 1351505 TRGC2 T cell receptor gamma constant 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; phorbol 13-acetate 12-myristate 6480464;8554872 6967 P03986 M15002 1673087;5022578;5037552;7187376 D1S1423;D7S2865;D8S2279;TCRG HGNC:12276 615450 1342936 TRGJP2 T cell receptor gamma joining P2 6972 M16016 HGNC:12281 1352083 TRGP1 tRNA glycine (GCC) pseudogene 1 2613239 7199 HGNC:12283 1348804 TRGV1 T cell receptor gamma variable 1 (non-functional) 7 7 7 p14 38395015 38395484 - 38407187 38407656 - 38367586 38368055 - 2527426;2938743;2969332 6973 ABBA01056929;AC007245;AC244625;AF159056;CH236951;M12949;NG_001336 1769551 TCRG TCRGV1;V1S1P pseudo HGNC:12284 VALIDATED 1344233 TRGV10 T cell receptor gamma variable 10 (non-functional) 7 7 7 p14 38327245 38327715 - 38339411 38339881 - 38299810 38300280 - 2527426;2969332 6984 ABBA01056928;AC006033;AC244625;AF159056;CH236951;NG_001336;X07206 CAA30182 TCRGV10;V3P pseudo HGNC:12285 VALIDATED 1348271 TRGV11 T cell receptor gamma variable 11 (non-functional) 7 7 7 p14 38319049 38319511 - 38331217 38331679 - 38291616 38292078 - 2527426;2969332;2969758 6985 Q99601 ABBA01056928;AC006033;AC244625;AF159056;CH236951;NG_001336;Y11227 CAA72108 TCRGV11;V4P pseudo HGNC:12286 VALIDATED 1353564 TRGV2 T cell receptor gamma variable 2 INTERACTS WITH benzo[a]pyrene 6480464 6974 M13429 2142657 RH11095 HGNC:12287 1352683 TRGV5 T cell receptor gamma variable 5 6978 M36286 HGNC:12290 1345520 TRGJP1 T cell receptor gamma joining P1 6971 X08084 HGNC:12280 1343924 TRGV4 T cell receptor gamma variable 4 6977 X15272 2142657 RH11095 HGNC:12289 1344243 TRGV3 T cell receptor gamma variable 3 6976 P03979 M13430 HGNC:12288 1346206 TRGV5P T cell receptor gamma variable 5P (pseudogene) 7 7 7 p14 38372457 38372926 - 38384631 38385100 - 38345030 38345499 - 2527426;2938743;2969332 6979 ABBA01056929;AC006033;AC244625;AF159056;CH236951;M13431;NG_001336 TCRGV5P;V1S5P APPROVED pseudo HGNC:12291 VALIDATED 1350547 TRGV6 T cell receptor gamma variable 6 (pseudogene) 7 7 7 p14 38368127 38368598 - 38380301 38380772 - 38340700 38341171 - 2527426;2938743;2969332 6980 ABBA01056929;AC006033;AC244625;AF159056;CH236951;M13432;NG_001336 2121646 GDB:4584962 TCRGV5P;TCRGV6;V1S5P;V1S6P APPROVED pseudo HGNC:12292 VALIDATED 1347990 TRGV7 T cell receptor gamma variable 7 (pseudogene) 7 7 7 p14 38362469 38362942 - 38374642 38375115 - 38335041 38335514 - 12477932;19447967;2527426;2938743;2969332 6981 ABBA01056928;AC006033;AC244625;AF159056;BC027954;CH236951;M13433;NG_001336 Hs.731375 TCRGV7;V1S7P APPROVED pseudo HGNC:12293 VALIDATED 1344955 TRGV8 T cell receptor gamma variable 8 ASSOCIATED WITH Melanoma (inferred) 8554872 6982 M13434 HGNC:12294 1351637 TRGVA T cell receptor gamma variable A (pseudogene) 7 7 7 p14 38349885 38350302 - 38362047 38362464 - 38322446 38322863 - 2527426;2969332 6986 ABBA01056928;AC006033;AC244625;AF159056;CH236951;NG_001336;X07208 TCRGVA;V5P APPROVED pseudo HGNC:12296 VALIDATED 1348803 TRGVB T cell receptor gamma variable B (pseudogene) 7 7 7 p14 38323196 38323666 - 38335364 38335834 - 38295763 38296233 - 2527426;2969332 6987 ABBA01056928;AC006033;AC244625;AF159056;CH236951;NG_001336;X07209 TCRGVB;V6P APPROVED pseudo HGNC:12297 VALIDATED 1354410 TRGV9 T cell receptor gamma variable 9 INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; cytarabine 1580863;6480464 6983 Q99603 X07205 1673087;1744071;7187376 D7S2865;GDB:385545;TCRG HGNC:12295 2300986 TRH-GTG1-1 transfer RNA-His (GTG) 1-1 1;MT 1 q21.1 145396881 145396952 - 146038044 146038115 + 18984615 100188991 ABBA01005749;AC239799;AL355505;HG983832 TRNAH4 APPROVED trna HGNC:34535 MODEL 2300643 TRH-GTG1-2 transfer RNA-His (GTG) 1-2 1;MT 1 146544773 146544844 + 147073225 147073296 + 18984615 100189334 ABBA01004397;AC241584;AL596177;HG983833 TRNAH10 APPROVED trna HGNC:34902 MODEL 2300670 TRH-GTG1-3 transfer RNA-His (GTG) 1-3 1;MT 1 147753471 147753542 + 148281365 148281436 + 18984615 100189307 ABBA01053732;AC245100;AL592207;HG983834 TRNAH9 APPROVED trna HGNC:34874 MODEL 2300803 TRH-GTG1-4 transfer RNA-His (GTG) 1-4 1;MT 1 147774845 147774916 - 148302734 148302805 - 18984615 100189174 ABBA01053732;AC245100;AL592207;HG983835 TRNAH7 APPROVED trna HGNC:34736 MODEL 69154 TRH thyrotropin-releasing hormone This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory hormone. The human proprotein contains six thyrotropin-releasing hormone tripeptides. Thyrotropin-releasing hormone is involved in the regulation and release of thyroid-stimulating hormone, as well as prolactin. Deficiency of this hormone has been associated with hypothalamic hypothyroidism. [provided by RefSeq, May 2013] 3 3 3 q13.3-q21 128120232 128123896 + 129693236 129696781 + 129974393 129977938 + 1600406;1600414;1580863;6480464;7240710;8699517 16926379;17227965 10702693;11914577;12067454;12270926;12473660;12477932;14764629;15117874;15328193;15489334;16344560;16754659;17137217;18577758;18805917;1900134;1904138;19086053;19299458;19453261;19825978;19913121;20074584;20398908;20468064;20628086;20687402;2126343;21956127;22378876;22710260;22719854;22759379;22967761;23087672;23143598;23146791;23215350;23248581;23373458;23387883;23524276;23585666;24010162;7501234;7647472;7816190;8395824;9794253 7200 D6RFM1;P20396 ABBA01059211;AC083906;AK313473;AMYH02007654;AW205952;BC069375;BC074888;BC074889;BC110515;BC110516;BE670731;CH471052;DA515022;DA526260;M63580;M63581;M63582;NG_027816;NM_007117 AAA36480;AAH69375;AAH74888;AAH74889;AAI10516;AAI10517;BAG36258;EAW79229;NP_009048;P20396 Hs.182231;Hs.732877 1679317;1853390;2125329;2136243;2218622 RH80283;SGC35605;STS-M63582;TRH_4173;WI-22671 MGC125964;MGC125965;Pro-TRH;TRF OTTHUMP00000216039;OTTHUMP00000216040;TSH-releasing factor;pro-thyrotropin-releasing hormone;prothyroliberin;protirelin;thyrotropin releasing hormone;thyrotropin-releasing factor APPROVED protein-coding ENSG00000170893 HGNC:12298 08944 275120;613879 REVIEWED 2300991 TRH-GTG1-5 transfer RNA-His (GTG) 1-5 15;MT 15 45490804 45490875 - 45198606 45198677 - 18984615 100188986 ABBA01039186;AC051619;AMYH02030352;HG983836 TRNAH1 APPROVED trna HGNC:34536 MODEL 2300912 TRH-GTG1-7 transfer RNA-His (GTG) 1-7 15;MT 15 45493349 45493420 + 45201151 45201222 + 18984615 100189065 ABBA01039186;AC051619;AMYH02030352;HG983838 TRNAH6 APPROVED trna HGNC:34624 MODEL 2300990 TRH-GTG1-8 transfer RNA-His (GTG) 1-8 6;MT 6 27125906 27125977 + 27158127 27158198 + 18984615 100188987 ABBA01037988;AL021807;AMYH02013376;HG983839 TRNAH3 APPROVED trna HGNC:34538 MODEL 1605131 TRH-GTG1-9 transfer RNA-His (GTG) 1-9 9;MT 9 14433938 14434009 - 14433940 14434011 - 18984615;6188108 100009607 ABBA01065299;AL137017;AMYH02019194;HG983840;X01553 TRNAH5 APPROVED trna HGNC:33260 MODEL 2300627 TRH-GTG2-1 transfer RNA-His (GTG) 2-1 1;MT 149155828 149155899 - 18984615 100189350 AL356957;HG983841 TRNAH11 APPROVED trna HGNC:34918 2300735 TRH-GTG3-1 transfer RNA-His (GTG) 3-1 MT 1 1 18984615 100189242 AC069410;HG983842 TRNAH8 APPROVED trna HGNC:34805 1603520 TRHDE-AS1 TRHDE antisense RNA 1 12 12 12 q21.1 72310608 72330610 - 72647287 72667289 - 72253507 72273509 - 12477932;14702039;16344560 283392 AA868510;ABBA01026502;AC087886;AK095156;AMYH02026743;BC040230;BC093901;BC093903;DA024500;DA139014;DR005853;NR_026836;NR_026837 BAG52994 Hs.363603 1665987;2220568 UniSTS:485413;WI-17109 APPROVED ncrna ENSG00000236333 HGNC:27471 18764 PREDICTED 2300728 TRI-AAT1-1 transfer RNA-Ile (AAT) 1-1 6;MT 6 58149254 58149327 + 57800211 57800284 + 18984615 100189249 AL596065;FP325329;HG983843 TRNAI12 APPROVED trna HGNC:34812 MODEL 2300515 TRI-AAT10-1 transfer RNA-Ile (AAT) 10-1 6 6 6 p22.1 28857868 28857941 + 27251864 27251937 + 27284085 27284158 + 18984615 100189462 ABBA01037992;AL021808;AMYH02013380;HG983857;NG_008519 2189669;7187247 D6S2219 TRNAI28P APPROVED pseudo HGNC:35034 INFERRED 2300989 TRH-GTG1-6 transfer RNA-His (GTG) 1-6 15;MT 15 45492611 45492682 - 45200413 45200484 - 18984615 100188988 ABBA01039186;AC051619;AMYH02030352;HG983837 TRNAH2 APPROVED trna HGNC:34537 MODEL 730936 TRHDE thyrotropin-releasing hormone degrading enzyme This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008] 12 12 12 q15-q21 72329850 72723987 + 72666314 73059422 + 72272534 72665642 + 6480464;8554872 10491199;10662590;12477932;12975309;19913121;20237162;20379614;20628086;20856200;21452313;23934736 29953 H0YHU0;Q9UKU6 ABBA01026500;ABBA01026501;ABBA01026502;AC016256;AC078921;AC087886;AC133480;AF126372;AK026034;AMYH02026743;AMYH02026744;AMYH02026745;AMYH02026746;AMYH02026747;AY358765;BC023230;BC142706;BC150181;CH471054;KF455657;KF455667;NM_013381;XM_005268819 AAF13141;AAI42707;AAI50182;AAQ89125;EAW97281;NP_037513;Q9UKU6;XP_005268876 Hs.199814 1336403;1656384;1663443;1710200;1714769;1728023;1746957;1746959;1761501;2133840;2150444;2176943;2220568;5021976 D12S1039;D12S1040;D12S1447;G63282;G64742;G64826;RH120050;SHGC-145505;SHGC-31877;SHGC-83725;UniSTS:485413;WI-13400;WI-19884;contig_91819 FLJ22381;PAP-II;PGPEP2;TRH-DE OTTHUMP00000241843;TRH-degrading ectoenzyme;TRH-specific aminopeptidase;pyroglutamyl aminopeptidase II;pyroglutamyl-peptidase II;thyroliberinase;thyrotropin-releasing hormone degrading ectoenzyme;thyrotropin-releasing hormone-degrading ectoenzyme APPROVED protein-coding HGNC:30748 09506 606950 REVIEWED 2300503 TRI-AAT11-1 transfer RNA-Ile (AAT) 11-1 12 12 12 q24.33 129328876 129328950 + 129716198 129716272 + 129231653 129231727 + 18984615 100189474 ABBA01019781;AC117501;AMYH02027537;HG983858;NG_008532 TRNAI29P APPROVED pseudo HGNC:35047 INFERRED 2300496 TRI-AAT12-1 transfer RNA-Ile (AAT) 12-1 20 20 20 q13.2 47923003 47923080 - 51218338 51218415 - 52601799 52601876 - 18984615 100189481 ABBA01052835;AL049736;AMYH02037283;HG983859;NG_008539 TRNAI30P APPROVED pseudo HGNC:35054 INFERRED 737056 TRHR thyrotropin-releasing hormone receptor This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with generalized thyrotropin-releasing hormone resistance. [provided by RefSeq, Sep 2011] 8 8 8 q23 106287347 106319484 + 110099653 110131813 + 109087424 109119584 + 1580863;1580744;6480464;7240710;8554872 11566956 11278883;12023974;12393857;12477932;12805411;14599121;15117874;15489334;16020481;18724972;19086053;19268274;19541745;19906838;20345371;22240728;23333304;23543262;7501234;7918619;8005602;8128317;8243797;8395824;8396925;8703031;8770906;9141550;9794253;9886052 7201 P34981 A41809;ABBA01037709;AC104945;AJ011701;AMYH02018597;AMYH02018598;AY493373;BC105045;BC113360;CH471060;D16845;D85376;NG_017161;NM_003301;S75283;X72089;X75071 AAB32222;AAI05046;AAI13361;AAR84356;ADR82960;BAA04120;BAA12796;CAA02627;CAA09746;CAA50979;CAA52965;EAW91923;NP_003292;P34981 Hs.3022 1797192;2218110 TRHR;TRHR_3050 MGC141920;TRH-R OTTHUMP00000227881;thyroliberin receptor;thyrotropin releasing hormone receptor APPROVED protein-coding ENSG00000174417 HGNC:12299 11767 188545 REVIEWED 2300906 TRI-AAT2-1 transfer RNA-Ile (AAT) 2-1 6;MT 6 27655967 27656040 + 27688188 27688261 + 18984615 100189071 ABBA01038005;AL009179;AMYH02013387;HG983844 TRNAI4 APPROVED trna HGNC:34630 MODEL 2300764 TRI-AAT3-1 transfer RNA-Ile (AAT) 3-1 6;MT 6 27242990 27243063 - 27275211 27275284 - 18984615 100189213 ABBA01037992;AL021808;AMYH02013380;HG983845 TRNAI11 APPROVED trna HGNC:34776 MODEL 2300584 TRI-AAT4-1 transfer RNA-Ile (AAT) 4-1 17;MT 17 8130309 8130382 - 8226991 8227064 - 18984615 100189393 ABBA01054904;AC135178;AMYH02032923;HG983846 TRNAI24 APPROVED trna HGNC:34961 MODEL 2300590 TRI-AAT5-2 transfer RNA-Ile (AAT) 5-2 17;MT 17 8090911 8090984 + 8187593 8187666 + 18984615 100189387 ABBA01054901;AC129492;AMYH02032922;HG983848 TRNAI23 APPROVED trna HGNC:34955 MODEL 2300702 TRI-AAT5-1 transfer RNA-Ile (AAT) 5-1 14;MT 14 102783429 102783502 + 102317092 102317165 + 18984615 100189275 ABBA01048485;AL352978;AMYH02029895;HG983847 TRNAI15 APPROVED trna HGNC:34839 MODEL 2300824 TRI-AAT5-3 transfer RNA-Ile (AAT) 5-3 6;MT 6 26554350 26554423 + 26554122 26554195 + 18984615 100189153 ABBA01066558;AL121936;AMYH02013354;HG983849 TRNAI9 APPROVED trna HGNC:34715 MODEL 2300641 TRI-AAT5-4 transfer RNA-Ile (AAT) 5-4 6;MT 6 27144994 27145067 - 27177215 27177288 - 18984615 100189336 ABBA01037988;AL121934;AMYH02013377;HG983850 2169797 D6S2344 TRNAI20 APPROVED trna HGNC:34904 MODEL 2300829 TRI-AAT7-1 transfer RNA-Ile (AAT) 7-1 MT 1 1 18984615 100189148 AL591044;HG983853 TRNAI8 APPROVED trna HGNC:34710 2300605 TRI-AAT6-1 transfer RNA-Ile (AAT) 6-1 6;MT 6 26745255 26745328 - 26756552 26756625 + 18984615 100189372 ABBA01031632;AL591044;HG983852 1787516 SHGC-155439 TRNAI22 APPROVED trna HGNC:34940 MODEL 2300667 TRI-AAT5-5 transfer RNA-Ile (AAT) 5-5 6;MT 6 27205350 27205423 - 27237571 27237644 - 18984615 100189310 ABBA01037991;AL021808;AMYH02013380;HG983851 2168229 D6S2342 TRNAI17 APPROVED trna HGNC:34877 MODEL 2300882 TRI-AAT8-1 transfer RNA-Ile (AAT) 8-1 6;MT 6 27636362 27636435 + 27668583 27668656 + 18984615 100189095 ABBA01038004;AL031229;AMYH02013386;HG983855 TRNAI5 APPROVED trna HGNC:34656 MODEL 1351110 TRI-AAT9-1 transfer RNA-Ile (AAT) 9-1 6;MT 6 p22.1 27241739 27241812 + 27273960 27274033 + 18984615 7202 ABBA01037992;AL021808;AMYH02013380;HG983856 TRI;TRNAI1 APPROVED trna HGNC:12300 MODEL 2300845 TRI-GAT1-1 transfer RNA-Ile (GAT) 1-1 MT;X X 3756418 3756491 - 3838377 3838450 - 18984615 100189132 ABBA01044359;BX890604;HG983860 TRNAI7 APPROVED trna HGNC:34694 MODEL 2300927 TRI-GAT1-2 transfer RNA-Ile (GAT) 1-2 MT;X X 3794842 3794915 - 3876801 3876874 - 18984615 100189050 BX890604;HG983861 TRNAI3 APPROVED trna HGNC:34609 MODEL 2300550 TRI-GAT1-3 transfer RNA-Ile (GAT) 1-3 MT;X X 3833271 3833344 - 3915230 3915303 - 18984615 100189427 AMYH02038737;BX890604;HG983862 TRNAI26 APPROVED trna HGNC:34996 MODEL 2300653 TRI-TAT1-1 transfer RNA-Ile (TAT) 1-1 19;MT 19 39902808 39902900 - 39412168 39412260 - 100189324 ABBA01040729;AC011500;AMYH02036093;HG983863 TRNAI18 APPROVED trna HGNC:34891 MODEL 2300712 TRI-TAT2-1 transfer RNA-Ile (TAT) 2-1 2;MT 2 43037676 43037768 + 42810536 42810628 + 100189265 ABBA01075078;AC098824;AMYH02003685;HG983864 TRNAI13 APPROVED trna HGNC:34828 MODEL 2300576 TRI-AAT7-2 transfer RNA-Ile (AAT) 7-2 6;MT 6 26780832 26780905 + 26720992 26721065 - 17554300;17632545;17804836;18364390;18369459;18372903;18391951;18464913;18668548;18758464;18794853;18836448;18839057;18984615;19079260;19084217;19115949;19122664;19169254;19343178;19389651;19396169;19525955;19557197;19571808;19571809;19571811;19620980;19664746;19721433;19820697;19836008;19838193;19893584;19915572;19915573;20031603;20041166;20045101;20062062;20062063;20159113;20189936;20228798;20363506;20383146;20383147;20397748;20453840;20453841;20512145;20526338;20526339;20596022;20598377;20639394;20639880;20639881;20662065;20686565;20694011;20711174;20848476;20860503;20881960;20923822;20953188;20953190;21037568;21051598;21076409;21131588;21156761;21254220;21297633;21326295;21348951;21399633;21399635;21408207;21452313;21499248;21502966;21533074;21570397;21602797;21642993;21653640;21658281;21665990;21685187;21699788;21738478;21738480;21750111;21750679;21757650;21764829;21779181;21779381;21801394;21804548;21841780;21896673;21900946;21935397;21946350;21971053;22005931;22036096;22075330;22190364;22197929;22286212;22319020;22399527;22412388;22446962;22451204;22479202;22493691;22504420;22554406;22610502;22634755;22658931;22688191;22699663;22807686;22808956;22841784;22885689;22936669;22941190;22961001;22993228;23001997;23022100;23028341;23028483;23042114;23055271;23092984;23128233;23144326;23146381;23212062;23242368;23247143;23251661;23263486;23263863;23266558;23273568;23284291;23291585;23321320;23326239;23349640;23377640;23382691;23393555;23408906;23417110;23420232;23449627;23453885;23455636;23456168;23459936;23463857;23472185;23482656;23511034;23517042;23562540;23563607;23568457;23754948;23760081;23793025;23817569;23817570;23817571;23824729;23829686;23850713;23918589;23935489;23936387;23962720;23974872;24047820;24097066;24097068;24149102;24162737;24162738;24166486;24204295;24262325;24280982;24282030;24322204;24324551;24324648;24376798;24388013;24390342;24529757 100189401 AL591044;FP325329;HG983854 TRNAI25 APPROVED trna HGNC:34970 MODEL 2300949 TRI-TAT2-2 transfer RNA-Ile (TAT) 2-2 6;MT 6 26988125 26988218 + 27020346 27020439 + 100189028 ABBA01037986;AL590062;AMYH02013374;HG983865 TRNAI2 APPROVED trna HGNC:34587 MODEL 2300629 TRI-TAT3-1 transfer RNA-Ile (TAT) 3-1 6;MT 6 28505367 28505460 + 28537590 28537683 + 100189348 ABBA01038021;AL049543;AMYH02013394;HG983867 TRNAI21 APPROVED trna HGNC:34916 MODEL 2300846 TRI-TAT2-3 transfer RNA-Ile (TAT) 2-3 6;MT 6 27599200 27599293 + 27631421 27631514 + 100189131 ABBA01038002;AL031229;AMYH02013384;HG983866 TRNAI6 APPROVED trna HGNC:34693 MODEL 1347268 TRIAP1P1 TP53 regulated inhibitor of apoptosis 1 pseudogene 1 10 10 p12.1 27665877 27667328 - 27376948 27378399 - 100289619;338617 ABBA01034391;AL355493;AMYH02022513;NG_027980 C10orf135;bA748L13.4 APPROVED pseudo HGNC:31659 INFERRED 1602327 TRIAP1 TP53 regulated inhibitor of apoptosis 1 ENCODES a protein that exhibits p53 binding; phosphatidic acid transporter activity; INVOLVED IN cellular response to UV; DNA damage response, signal transduction by p53 class mediator; negative regulation of apoptotic process; FOUND IN mitochondrial intermembrane space; mitochondrion; protein complex; INTERACTS WITH (S)-colchicine; 5-fluorouracil; adenine 12 12 12 q24.31 120516476 120518927 - 120881764 120884215 - 120443961 120446412 - 6480464 11042152;12477932;15489334;15735003;15735665;16541075;16712791;19171422;20877624;21890473;21901158;21988832;23684607;23824909;23931759 51499 O43715 ABBA01020121;AF161481;AK312006;AL021546;AMYH02027375;BC002638;BC055313;CB141335;CH471054;NM_016399;U75688 AAF29096;AAH02638;AAH55313;AAR00584;ABM84017;ABM87362;BAG34944;EAW98192;NP_057483;O43715 Hs.69499 1666545;1853821;2109413 HSPC132_9727;RH41987;RH48830 HSPC132;MDM35;P53CSV;WF-1 OTTHUMP00000045453;TP53-regulated inhibitor of apoptosis 1;mitochondrial distribution and morphology 35 homolog;p53-inducible cell-survival factor;protein 15E1.1 protein-coding ENSG00000170855 HGNC:26937 13698 614943 VALIDATED 1353087 TRICY1 trichilemmal cyst 1 ASSOCIATED WITH Trichilemmal Cyst 1 (inferred) 7240710 94014 HGNC:12302 609649 1354037 TRIB1 tribbles pseudokinase 1 ENCODES a protein that exhibits mitogen-activated protein kinase kinase binding; protein kinase inhibitor activity; transcription factor binding; INVOLVED IN JNK cascade; negative regulation of lipopolysaccharide-mediated signaling pathway; negative regulation of protein kinase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 1-fluoro-2,4-dinitrobenzene; 17beta-estradiol 8 8 8 q24.13 122631533 122639615 + 126442563 126450647 + 125430321 125438405 + 1580863;6480464;8554872 10727209;12477932;12736262;14702039;15299019;15489334;16344560;16595688;16715410;17452330;17724128;18193043;18193044;18596051;18987386;19060906;19060911;19148283;19322201;19487539;19656773;19760754;19936222;20005259;20139978;20160193;20339536;20570916;20571754;20610816;20679960;20686565;20692138;20864672;20972250;21053424;21071687;21386085;21691831;21906983;22001757;22145581;22274752;22294728;22418572;22479202;22623531;22832862;23128233;23251661;23417677;23550039;24097068;24161842;24382668;24386095;25117710;9342215 10221 E5RFH4;Q96RU8 ABBA01037918;AC091114;AF205437;AF250310;AJ000480;AK001319;AK022787;AK297539;AK307561;AL832388;AMYH02018734;BC012441;BC063292;CH471060;DA686993;FB713563;FJ515869;JA528975;NM_001282985;NM_025195;XM_006716496;XM_006716497;XR_428373 AAG35663;AAH63292;AAK58174;ACS13752;BAG59938;CAA04119;CAI46181;CAS91544;CCD74463;EAW92085;NP_001269914;NP_079471;Q96RU8;XP_006716559;XP_006716560 Hs.444947 1686018;2108593 RH98362;TRIB1_9064 C8FW;GIG-2;GIG2;SKIP1;TRB-1;TRB1 G-protein-coupled receptor induced protein;G-protein-coupled receptor-induced gene 2 protein;G-protein-coupled receptor-induced protein 2;OTTHUMP00000228187;phosphoprotein regulated by mitogenic pathways;tribbles homolog 1;tribbles-like protein 1 APPROVED protein-coding ENSG00000173334 HGNC:16891 09863 609461 VALIDATED 1351441 TRIB2 tribbles pseudokinase 2 This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] 2 2 2 p24.3 12773761 12799625 + 12856998 12882860 + 12716872 12742734 + 737633;1580863;6480464 12477932 12736262;12791994;15146197;15299019;15489334;15815621;15950723;16713569;16715410;16963228;17097562;17545167;17576771;18029348;18643775;18952906;19656773;20005259;20160349;20208562;20468071;20614846;20614847;20805362;20944657;21399661;21832049;21988832;22271508;22589742;22775572;23064961;23071539;23108367;23455924;23550039;23769673;23850892;24089522;24211582;24516045;8889548;9342215 28951 B5MCX4;F8WA18;Q92519 ABBA01015664;AC009486;AK129973;AK299146;AK313237;AMYH02003300;AY245544;BC002637;BQ188880;CH471053;CN293921;D87119;DC379987;NG_011644;NM_021643;NR_027303 AAH02637;AAO89231;AAY15015;BAA13250;BAG36048;BAH12958;EAX00907;EAX00908;EAX00909;NP_067675;Q92519 Hs.467751 1651414;1673728;1768019;2124639 G19140;RH12451;STS-Z40317;WIAF-2088 C5FW;FLJ57420;GS3955;TRB-2;TRB2 OTTHUMP00000115687;tribbles homolog 2 APPROVED protein-coding ENSG00000071575 HGNC:30809 18224 609462 REVIEWED 1313482 TRIM11 tripartite motif containing 11 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nucleus and the cytoplasm. Its function has not been identified. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 201771344 201784479 - 228581373 228594584 - 228393676 228406816 - 1580863;6480464;8554872 11331580;12477932;12670303;14702039;15489334;16098226;16904669;18029348;18248090;18275850;19472918;21139048;21143188;21906983;21963094;22307522;22493164;22505724;23178488;23675467 81559 Q96F44;R4GMV1;R4GNB9;R4GNC3 ABBA01005836;AF220125;AF327056;AK074866;AK097825;AK226119;AK301859;AK314539;AL360165;AL670729;AMYH02002844;BC011629;BC069227;CH471098;NM_145214 AAG53498;AAH11629;AAH69227;AAM63957;ABZ92544;BAC11254;BAG37129;BAG53535;BAG63300;EAW69871;NP_660215;Q96F44 Hs.13543 2161591;2218114;5019715 A009J23;G32582;TRIM17_3821 BIA1;RNF92 E3 ubiquitin-protein ligase TRIM11;OTTHUMP00000037767;OTTHUMP00000037901;RING finger protein 92;tripartite motif-containing 11;tripartite motif-containing protein 11 APPROVED protein-coding ENSG00000154370 HGNC:16281 07429 607868 REVIEWED 1345491 TRIB3 tribbles pseudokinase 3 The protein encoded by this gene is a putative protein kinase that is induced by the transcription factor NF-kappaB. The encoded protein is a negative regulator of NF-kappaB and can also sensitize cells to TNF- and TRAIL-induced apoptosis. In addition, this protein can negatively regulate the cell survival serine-threonine kinase AKT1. Differential promoter usage and alternate splicing result in multiple transcript variants. [provided by RefSeq, Jul 2014] 20 20 20 p13-p12.2 456158 473052 + 356447 378203 + 380664 397559 + 1580863;6480464;8554872 11780052;12477932;12736262;12743605;12791994;13679039;14702039;15299019;15489334;15775988;15781252;16123373;16129579;16147992;16169070;16715410;16794074;16887816;16966378;17112672;17369260;17576771;17576816;17707795;17872950;18029348;18187772;18276110;18408768;18436806;18660489;18984671;19139803;19180501;19291425;19389115;19389818;19505541;19904274;19913121;20064487;20139130;20393693;20461355;20592469;20606298;20628086;20693163;21130836;21203563;21220698;21435438;21492415;21572435;21704407;21832049;21864376;21896644;21935927;22274752;22577090;22912727;22977230;23185332;23319603;23349842;23455924;23550039;23632994;23695665;24414038;25117710;8125298 57761 B0QYQ2;J3KR25;Q96RU7 ABBA01053748;AF250311;AJ697936;AJ697937;AJ697938;AJ697939;AJ697940;AK026945;AK222837;AK297546;AL034548;AMYH02036548;AY247738;BC019363;BC027484;BG828172;CH471133;CR457366;HI204121;NM_001301188;NM_001301190;NM_001301193;NM_001301196;NM_001301201;NM_021158;XM_005260773;XM_005260774 AAH19363;AAH27484;AAK58175;AAP04407;BAB15597;BAD96557;BAG59941;CAG27047;CAG33647;CBX54009;EAX10678;NP_001288117;NP_001288119;NP_001288122;NP_001288125;NP_001288130;NP_066981;Q96RU7;XP_005260830;XP_005260831 Hs.516826 2151925;2154194;2182645 STS-U02019;WI-15969;Z94712 C20orf97;NIPK;SINK;SKIP3;TRB-3;TRB3 OTTHUMP00000029910;OTTHUMP00000198129;neuronal cell death inducible putative kinase;neuronal cell death-inducible putative kinase;p65-interacting inhibitor of NF-kappa-B;p65-interacting inhibitor of NF-kappaB;tribbles homolog 3 APPROVED protein-coding ENSG00000101255 HGNC:16228 09836 607898 REVIEWED 1349784 TRIM10 tripartite motif containing 10 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31717991 31726978 - 30119722 30128711 - 30151945 30160934 - 1580863;6480464;8554872 10207104;11006080;11331580;12477932;16702430;19851445;20041166;21143188;22939624;24489884;24722188;8304341;9271628 10107 Q9UDY6 AB088089;AB103595;AB202085;ABBA01038041;AF220122;AF220123;AL360163;AL360164;AL669914;AL671859;AL844220;AMYH02013427;BA000025;BC093926;BC113419;BX005441;BX927221;CH471081;CR753815;CR759838;CR788282;L19497;NM_006778;NM_052828;Y07829 AAA72392;AAG53495;AAG53496;AAH93926;AAI13420;BAB63332;BAC54921;BAE78605;BAF31256;CAB52384;EAX03268;EAX03269;EAX03270;NP_006769;NP_439893;Q9UDY6 Hs.709483 1675139;1707336;1768768;1768770;1769940;1769942;2161546;2173369;2180162;2218624 G24073;RH35894;RH36278;RH46708;RH46821;RH68466;SGC34813;SHGC-17229;SHGC-79289;TRIM10__3757 HERF1;MGC141979;RFB30;RNF9 B30-RING finger protein;OTTHUMP00000029429;OTTHUMP00000029430;Zn-finger protein;hematopoietic RING finger 1;ring finger protein 9;tripartite motif protein 10;tripartite motif-containing 10;tripartite motif-containing protein 10 APPROVED protein-coding ENSG00000204613 HGNC:10072 05752 605701 VALIDATED 1323013 TRIM14 tripartite motif containing 14 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies and its function has not been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 9 9 9 q22.33 71345840 71395772 - 100798071 100881695 - 98035794 98119413 - 6480464;8554872 11331580;12477932;14702039;15164053;15489334;16751776;18248090;18978678;21139048;22505724;23000965;24379373;24457600;8590280 9830 B7ZAZ9;F2Z2M2;Q14142 AA469446;ABBA01042919;AF220130;AF220131;AK055833;AK097480;AK292825;AK303366;AL137073;AMYH02021317;AMYH02021318;BC006333;BF797334;CH471105;D50919;DC405577;NM_014788;NM_033219;XM_005252320;XM_005252321;XM_005252322;XM_005252323;XM_006717338;XM_006717339 AAG53503;AAG53504;AAH06333;ABM84219;ABM87622;BAA09478;BAC05071;BAF85514;BAG64424;EAW58870;EAW58871;EAW58872;EAW58873;EAW58874;EAW58875;EAW58876;EAW58877;EAW58878;NP_055603;NP_150088;Q14142;XP_005252377;XP_005252378;XP_005252379;XP_005252380;XP_006717401;XP_006717402 Hs.575631 1677644;1758601;1850680;2123858;2134855;2171123;2177021;2218112;5022651;5024039 A008O24;D11S2921;D16S325;D2S1263;D9S1703;RH25352;RH71443;SHGC-148909;STS-N37069;TRIM14_3750 KIAA0129 OTTHUMP00000021761;OTTHUMP00000021762;OTTHUMP00000021764;tripartite motif protein TRIM14;tripartite motif-containing 14;tripartite motif-containing protein 14 APPROVED protein-coding ENSG00000106785 HGNC:16283 05948 606556 REVIEWED 1316901 TRIM13 tripartite motif containing 13 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q14 31625838 31647244 + 50571143 50592603 + 49997007 50018467 + 1580863;6480464 11161783;11264177;11331580;12477932;12761501;14499696;14702039;15057823;15188451;15489334;16499869;17314412;18029348;18248090;21139048;21186355;21333377;21900206;21906983;21963094;22178386;23563607;23647456;24021263;9599022 10206 L7MTJ6;O60858;X6R9U5;X6RH27 ABBA01051034;AF220127;AF220128;AF241849;AF241850;AF279660;AJ224819;AK001806;AK056841;AK314496;AL137060;AL360196;AL391993;AL832695;AMYH02028019;AMYH02028020;AY191002;AY455758;AY764035;BC003579;BC029514;BC055420;BC063407;BI668033;CH471075;HC025770;KF455768;NM_001007278;NM_005798;NM_052811;NM_213590 AAF91315;AAG53500;AAG53501;AAH03579;AAH63407;AAK13059;AAK51624;AAO38979;AAR31110;AAV51406;ABM83496;ABM86711;BAG37096;CAA12136;CAD38633;CBH19816;EAX08844;EAX08845;EAX08846;EAX08847;EAX08848;NP_001007279;NP_005789;NP_434698;NP_998755;O60858 Hs.436922 1654760;1690322;1740833;1851231;5017755;5020948;5022450;5022578;5118444;5123881 D10S275;D11S3316;D13S1476;D1S1423;G35510;RH44787;RH45034;RH94230;TRIM13;WI-10171 CAR;DLEU5;LEU5;RFP2;RNF77 B-cell chronic lymphocytic leukemia tumor suppressor Leu5;CLL-associated RING finger;E3 ubiquitin-protein ligase TRIM13;OTTHUMP00000018430;OTTHUMP00000018431;OTTHUMP00000018432;OTTHUMP00000018433;OTTHUMP00000215013;OTTHUMP00000215014;RING finger protein 77;leukemia-associated protein 5;putative tumor suppressor RFP2;ret finger protein 2;tripartite motif protein 13;tripartite motif-containing 13;tripartite motif-containing protein 13 APPROVED protein-coding ENSG00000204977 HGNC:9976 10414 605661 REVIEWED 1606449 TRIM16L tripartite motif containing 16-like FOUND IN cytoplasm (inferred); INTERACTS WITH 1,3-benzothiazole-2-thiol; 2,3,7,8-tetrachlorodibenzodioxine; 7beta-aminocephalosporanic acid 17 17 p11.2 18601311 18639431 + 18697998 18736118 + 6480464 12477932;15489334;21963094 147166 C9JWX7;I3L1X9;I3L2F3;I3L3K9;J3KSX4;Q309B1 ABBA01002387;ABBA01002388;AC026271;AC107982;AK293428;AK298836;AK301639;AK301647;AK316368;AL080124;AMYH02033117;AMYH02033118;AMYH02033119;BC127827;BC128591;BC146902;BC146907;DQ232882;NM_001037330;XM_005256479;XM_005256480;XM_005256481;XM_005256482;XM_005256483;XM_006721460;XM_006721461;XM_006721462;XR_429811 AAI27828;AAI28592;AAI46903;AAI46908;ABB18375;BAG56933;BAG60964;BAG63120;BAH13530;BAH14739;NP_001032407;Q309B1;XP_005256536;XP_005256537;XP_005256538;XP_005256539;XP_005256540;XP_006721523;XP_006721524;XP_006721525 Hs.164324;Hs.745311 1684038;5022200;5037552;5093080 D8S2279;G32507;L18426;RH67196 TRIM70 OTTHUMP00000065075;OTTHUMP00000065215;OTTHUMP00000065216;tripartite motif protein 70;tripartite motif-containing 16-like;tripartite motif-containing protein 16-like protein;tripartite motif-containing protein 70 APPROVED protein-coding ENSG00000108448 HGNC:32670 18731 PROVISIONAL 1348776 TRIM16 tripartite motif containing 16 This gene was identified as an estrogen and anti-estrogen regulated gene in epithelial cells stably expressing estrogen receptor. The protein encoded by this gene contains two B box domains and a coiled-coiled region that are characteristic of the B box zinc finger protein family. The proteins of this family have been reported to be involved in a variety of biological processes including cell growth, differentiation and pathogenesis. Expression of this gene was detected in most tissues. Its function, however, has not yet been determined. [provided by RefSeq, Jul 2008] 17 17 p11.2 15531277 15587625 - 15627966 15682879 - 1580863;6480464;8554872 11331580;11919186;12477932;14702039;15302935;15489334;16079077;16169070;16575408;16636064;18029348;19147277;20729920;21044950;21832049;21963094;22629402;22863883;23404198;23422002;9817599 10626 B3KP96;J3QKY5;J3QL38;J3QLP0;J3QR69;K7EJH2;K7EL43;K7ENN8;O95361 ABBA01035680;ABBA01035681;ABBA01035682;AC005324;AF096870;AK002035;AK056026;AK314557;AMYH02033053;AMYH02033054;AMYH02033055;AMYH02033056;AMYH02033057;BC001564;BC015674;BC053514;BC067096;CH878675;CR457136;GN344137;NM_006470 AAC79080;AAH01564;AAH53514;AAH67096;ABZ92466;ADR82719;BAG37142;BAG51004;BAG51608;CAG33417;CAY56004;EAW50853;NP_006461;O95361 Hs.123534 1684038;1690300;5037552;5093080 D8S2279;G32507;RH67196;RH74977 DKFZp434O1826;EBBP OTTHUMP00000065085;OTTHUMP00000065086;estrogen-responsive B box protein;tripartite motif-containing 16;tripartite motif-containing protein 16 APPROVED protein-coding ENSG00000221926 HGNC:17241 15552 609505 REVIEWED 736909 TRIM17 tripartite motif containing 17 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein is expressed almost exclusively in the testis, but its function is unknown. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42 201785592 201794538 - 228594858 228604583 - 228407935 228416882 - 68839;1580863;6480464;8554872 9792805 10894938;11331580;12477932;14702039;15489334;16189514;16344560;19358823;19472918;19549727;21143188;22023800;22493164;22939624;23105109 51127 E5RI62;E5RJW6;J3KNZ3;J3KQG0;Q9Y577 ABBA01005836;AF156271;AK055426;AK301105;AK308774;AK316379;AL139288;AL670729;AMYH02002844;AMYH02002845;AW770403;BC023999;BC033788;BI825739;BI831987;BM563820;CH471098;DA270450;DB031719;DC309740;NM_001024940;NM_001134855;NM_016102;XM_006711779;XM_006711780 AAD40286;AAH33788;BAG51516;BAG62704;BAH14750;EAW69872;EAW69873;EAW69874;EAW69875;EAW69876;NP_001020111;NP_001128327;NP_057186;Q9Y577;XP_006711842;XP_006711843 Hs.121748 2218114 TRIM17_3821 RBCC;RNF16;terf E3 ubiquitin-protein ligase TRIM17;OTTHUMP00000037902;OTTHUMP00000037903;OTTHUMP00000037904;OTTHUMP00000228236;OTTHUMP00000228237;RING finger protein terf;ring finger protein 16;testis RING finger protein;tripartite motif protein 17;tripartite motif-containing 17;tripartite motif-containing protein 17 APPROVED protein-coding ENSG00000162931 HGNC:13430 05839 606123 REVIEWED 1322189 TRIM2 tripartite motif containing 2 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. Its function has not been identified. [provided by RefSeq, Jul 2008] 4 4 4 q31.3 151399157 151585007 + 154073650 154260474 + 153153118 153339322 + 1580863;6480464;8699517;7240710;8554872 11331580;11432975;12477932;12670303;15489334;16189514;17043677;19322201;19549727;19690564;20379614;21143188;21478148;21654844;21720722;21988832;22493164;22939624;23105109;23898208;9628581 23321 C9J084;C9JVI3;Q9C040 AB011089;ABBA01070131;ABBA01070132;ABBA01070133;ABBA01070134;ABBA01070135;ABBA01070136;AC013477;AC114791;AF220018;AK000179;AK308731;AL110178;AL110234;AMYH02010315;AMYH02010316;AMYH02010317;AMYH02010318;BC005016;BC011052;BC019242;BC025417;CH471056;GN088456;GN337716;NM_001130067;NM_015271;XM_006714157;XM_006714158;XM_006714159;XM_006714160;XM_006714161;XM_006714162;XM_006714163;XM_006714164;XM_006714165 AAG53472;AAH05016;AAH11052;ADZ16100;BAA25443;CAB53687;CAX86997;CAY39311;EAX04960;EAX04961;EAX04962;EAX04963;NP_001123539;NP_056086;Q9C040;XP_006714220;XP_006714221;XP_006714222;XP_006714223;XP_006714224;XP_006714225;XP_006714226;XP_006714227;XP_006714228 Hs.435711 1669228;1672856;1681426;1687860;1798296;2138525;2140518;2151743 D15S1185;D4S1079;D4S2654;RH47926;RH66139;RH92384;SHGC-59637;TRIM2_2070 CMT2R;KIAA0517;RNF86 E3 ubiquitin-protein ligase TRIM2;OTTHUMP00000209036;OTTHUMP00000209037;RING finger protein 86;tripartite motif protein 2;tripartite motif protein TRIM2;tripartite motif-containing 2;tripartite motif-containing protein 2 APPROVED protein-coding ENSG00000109654 HGNC:15974 10279 614141;615490 VALIDATED 1606340 TRIM23 tripartite motif containing 23 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008] 5 5 5 q12.3 61883967 61918646 - 64885507 64920187 - 65589680 65624360 - 6480464 10748148;10982851;11331580;12477932;15489334;15684077;16189514;16413270;17118964;19060904;19176615;19549727;20706999;20724660;21078624;21139048;21988832;22493164;22505724;23088713;23105109;23718855;24250222;24722188;8473324;8700863;9312116;9446556;9671726 373 D6R9E9;D6RBN4;D6RD22;P36406 ABBA01048329;AC008560;AF230397;AF230398;AF230399;AI679928;AK292814;AMYH02011428;BC022510;BI859501;CH471137;L04510;NM_001656;NM_033227;NM_033228;XM_005248497 AAA35940;AAG50176;AAG50177;AAG50178;AAH22510;ABM84572;ABM86510;BAF85503;EAW51349;EAW51350;EAW51351;NP_001647;NP_150230;NP_150231;P36406;XP_005248554 Hs.792 1647833;1651048;1675127;1677871;2166582;2166918;2191165 D5S2370;G15935;MARC_15693-15694:1017691889:1;RH41109;RH65883;RH66561;WI-19308 ARD1;ARFD1;RNF46 ADP-ribosylation factor domain protein 1, 64kDa;ADP-ribosylation factor domain-containing protein 1;ARF domain protein 1;E3 ubiquitin-protein ligase TRIM23;GTP-binding protein ARD-1;OTTHUMP00000123452;OTTHUMP00000123453;OTTHUMP00000222562;RING finger protein 46;tripartite motif protein TRIM23;tripartite motif-containing 23;tripartite motif-containing protein 23 APPROVED protein-coding ENSG00000113595 HGNC:660 03449 601747 REVIEWED 1322537 TRIM15 tripartite motif containing 15 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31729242 31738732 + 30130968 30140473 + 30163191 30172696 + 1580863;6480464 10207104;11331580;12477932;15342556;15489334;16702430;17207965;18248090;19549727;19851445;20211142;20379614;20466734;21044950;22493164;24489884;8304341;8812418 89870 A6NL11;H0Y5R0;Q5SRL0;Q9C019 AB088089;AB103595;AB202085;ABBA01038041;AF220132;AF220133;AI739162;AK290280;AK291853;AL669914;AL671855;AL671859;AL844220;AL845450;AMYH02013427;BA000025;BC038585;BP270476;BX005441;BX248419;BX927221;CH471081;CR388382;CR759838;CR788282;NM_033229;U34249;XM_005249471;XM_005272907;XM_005274898;XM_005275063;XM_005275195;XM_005275319;XM_005275490;XM_005275628 AAD03787;AAG53505;AAG53506;AAH38585;ADQ31792;BAB63331;BAC54922;BAE78606;BAF31257;BAF82969;BAF84542;EAX03271;NP_150232;Q9C019;XP_005249528;XP_005272964;XP_005274955;XP_005275120;XP_005275252;XP_005275376;XP_005275547;XP_005275685 Hs.591789;Hs.606488 1767827;2189635;2220136 C5_4_5;D6S2964;STS-H80869 RNF93;ZNF178;ZNFB7 OTTHUMP00000029038;RING finger protein 93;tripartite motif-containing 15;tripartite motif-containing protein 15;zinc finger protein 178;zinc finger protein B7 APPROVED protein-coding ENSG00000204610 HGNC:16284 15551 REVIEWED 1350727 TRIM24 tripartite motif containing 24 The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q32-q34 132883742 133008986 + 138145079 138270333 + 138460334 138585588 + 1580863;6480464;6484676;7240710;9479074;8699517;8554872 19471584;23642229 10022127;10318760;10439047;10562550;10598587;10610177;10935545;11313457;11331580;11500849;11518808;11851396;11986951;12096914;12393749;12477932;12503607;12677068;12684500;12690205;16643855;17081983;17287283;18029348;19197348;19471022;19556538;19690564;19909775;20211142;21139048;21164480;21182203;21435435;21693764;21890473;21906983;21988832;22123502;22389628;22493164;22666376;22939629;23717505;24409330;24457600;24654937;24820418;25027693;8598193;9016654;9115274;9191165;9259327;9632676;9774463 8805 O15164 AA844662;ABBA01001167;ABBA01001168;ABBA01001169;AC008265;AC013429;AF009353;AF119042;AK075306;AK302679;AK312610;AL360186;AMYH02016864;AMYH02016865;AMYH02016866;AMYH02016867;BC028689;CB988362;CH236950;CH471070;CQ783904;HC357204;NG_023286;NM_003852;NM_015905 AAB63585;AAD17258;AAH28689;BAG52105;BAG63911;CAF86917;CBJ56868;EAL24046;EAL24047;EAW83884;EAW83885;EAW83886;NP_003843;NP_056989;O15164 Hs.490287 1340420;1689201;1697130;1787702;1789522;1789526;1789528;1849226;2181232;2218094;7185303 D7S1449;D7S2560;D7S3181;D7S3185;D7S3186;RH102050;RH40971;RH46506;SHGC-172979;TIF1_3491 PTC6;RNF82;TF1A;TIF1;TIF1A;TIF1ALPHA;hTIF1 E3 ubiquitin-protein ligase TRIM24;OTTHUMP00000208723;OTTHUMP00000208725;RING finger protein 82;TIF1-alpha;transcription intermediary factor 1-alpha;transcriptional intermediary factor 1;tripartite motif protein 24;tripartite motif-containing 24;tripartite motif-containing protein 24 APPROVED protein-coding ENSG00000122779 HGNC:11812 04556 188550;603406 REVIEWED 1345175 TRIM21 tripartite motif containing 21 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 4530327 4539126 - 4406127 4414926 - 4384897 4393697 - 6480464;6907045 10022600;10785401;11251884;11263778;11331580;11461834;11971985;12127959;12477932;12646630;15324660;15342556;15489334;15916807;16051665;16095123;1610705;16189514;16200587;16297862;16316627;16335966;16356190;16403452;16472766;16630135;16670339;16775307;16828831;16880511;16906225;17118455;17156811;17400754;17552056;17579016;18022694;18029348;18071879;18248090;18272178;18312418;18361920;18420815;18641315;18799572;18845142;19167051;19201475;19201866;19265157;19380743;19615732;19675099;1985094;1985112;20013343;20224770;20585571;20627395;20628624;20668674;20697732;20936779;21045130;21150319;21183682;21264255;21319273;21565611;21575865;21862588;21987572;22178074;22268729;22288650;22394602;22479513;22493164;22505724;22647693;22704838;22797925;23039326;23105109;23153538;23357050;23383273;23398456;23402259;23438482;23443559;23455675;23554036;23862649;23975864;24094071;24449583;24462112;2450143;24673429;24816145;7561701;7713506;7832745;8094596;8125298;8625517;8882420;9933563 6737 H0YDP8;P19474 ABBA01028638;ABBA01028639;AC009758;AF391283;AK225564;AMYH02024238;AW575137;AY742713;BC010861;BP280435;BP288941;BU594670;CH471064;FB775520;M34551;M62800;NM_003141;U01882;U13657;U13658;XM_006718283 AAA36581;AAA36651;AAA79867;AAB87094;AAH10861;AAK76432;AAU89982;ABZ92235;CAV30717;EAW68845;NP_003132;P19474;XP_006718346 Hs.532357 1667978;2108527 SSA1_8646;WI-9239 RNF81;RO52;Ro/SSA;SS-A;SSA;SSA1;ro(SS-A) 52 kDa Ro protein;52 kDa ribonucleoprotein autoantigen Ro/SS-A;E3 ubiquitin-protein ligase TRIM21;OTTHUMP00000230775;RING finger protein 81;Sicca syndrome antigen A;Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro);sjoegren syndrome type A antigen;tripartite motif-containing 21;tripartite motif-containing protein 21 APPROVED protein-coding ENSG00000132109 HGNC:11312 00170 109092 REVIEWED 1343933 TRIM25 tripartite motif containing 25 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq, Jul 2008] 17 17 17 q23.2 51426842 51452985 - 54965270 54991409 - 56887909 56914048 - 1580863;6480464;6907045;8554872 10781795;11002417;11331580;11591653;12075357;12477932;12943693;15130519;15489334;15592455;16127453;16144914;16271083;16884686;17069755;17222803;17392790;17418098;18029348;18248090;18391951;18781797;18948594;19148513;19454344;19454348;19549727;19805454;20071582;20127022;20211142;20406818;20546612;21139048;21266548;21292167;21542805;21890473;21890623;21906983;21963094;21988832;22082156;22114345;22350887;22452784;22493164;22607805;22626058;22721718;22939629;23000965;23105109;23209422;23264040;23383273;23810392;23950712;23974796;24131985;24163370;24399297;24457600;24654937;24768535;24810856;24816145;25027693;7789997;8248217;8889548;9245730 7706 I3L2W4;Q14258 AB208994;ABBA01041307;AC015912;AK024597;AK310720;AMYH02033665;BC013752;BC016924;BC038247;BC042541;BC053605;BC106889;BC106890;BC114339;BM146967;BX538220;CF121587;CH471109;D21205;NM_005082 AAH16924;AAH42541;BAA04747;BAD92231;EAW94523;EAW94524;EAW94525;NP_005073;Q14258 Hs.528952 1653242;1682173;1729105;1760149;1849085;2123611;2174004;2174564;2181897;5493663 A006U31;D17S1657;D17S1770;D17S2138;RH12279;RH46398;SHGC-132045;Trim25;UniSTS:490148;WI-9306 EFP;RNF147;Z147;ZNF147 E3 ubiquitin/ISG15 ligase TRIM25;RING finger protein 147;estrogen-responsive finger protein;tripartite motif protein TRIM25;tripartite motif-containing 25;tripartite motif-containing protein 25;ubiquitin/ISG15-conjugating enzyme TRIM25;zinc finger protein 147 (estrogen-responsive finger protein);zinc finger protein-147 APPROVED protein-coding ENSG00000121060 HGNC:12932 02711 600453 REVIEWED 4143834 TRIL TLR4 interactor with leucine-rich repeats TRIL is a component of the TLR4 (MIM 603030) complex and is induced in a number of cell types by lipopolysaccharide (LPS) (Carpenter et al., 2009 [PubMed 19710467]).[supplied by OMIM, Apr 2010] 7 7 7 p14.3 28982554 28987608 - 28992974 28998029 - 28953358 28958413 - 6480464 12477932;12690205;19710467;19834535;21911501;9734811;9776767 9865 Q7L0X0 AB014544;ABBA01056793;AC005013;AMYH02015433;BC036337;CD580022;CH236948;CH471073;NM_014817 AAH36337;BAA31619;EAL24208;EAL24209;EAW93913;NP_055632;Q7L0X0 Hs.744120 1683585;2137505;5106598;7184949 A004Y37;D3S1315;RH45431;RH91399 KIAA0644 TLR4 interactor with leucine rich repeats APPROVED protein-coding ENSG00000255690 HGNC:22200 613356 VALIDATED 1347688 TRIM22 tripartite motif containing 22 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the cytoplasm and its expression is induced by interferon. The protein down-regulates transcription from the HIV-1 LTR promoter region, suggesting that function of this protein may be to mediate interferon's antiviral effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 11 11 11 p15 5830018 5851196 + 5710817 5732093 + 5689587 5710863 + 1580863;6480464;8554872 11096452;11331580;12477932;12539042;15064739;15203218;15489334;16713569;16926043;17156811;17567994;17970695;18029348;18389079;18656448;19212762;19218198;19481078;19585648;19694548;19902255;19943174;20001730;20006605;20211142;20980524;21139048;21264255;21345949;21651891;21683060;21890473;21988832;22509910;23000965;23408607;23670564;23818111;23867815;23921607;24066097;24183724;24478420;25015289;7797467;8661041 10346 B4DQS5;C9J060;C9JIU5;C9JWC5;H7BZD3;H7C262;H7C2K0;H7C376;Q8IYM9 ABBA01028655;AC015691;AC109341;AK290434;AK298715;AK298934;AK301192;AK308221;AK308796;AK310098;AL360134;AL360187;AL360190;AM040752;AMYH02024262;AMYH02024263;BC022281;BC035582;CD621768;CH471064;DC364428;HQ842635;NM_001199573;NM_006074;X82200 AAH22281;AAH35582;ABM82127;ABM85310;ADY69767;BAF83123;BAG60871;BAG61037;BAG62772;CAA57684;CAJ13842;EAW68767;EAW68768;EAW68769;EAW68770;NP_001186502;NP_006065;Q8IYM9 Hs.501778;Hs.684559;Hs.733231 1663250;1663372;1721115;1766553;1799250;1800094;1800698;1804400;1806012;1808250;1808958;1810254;1811148;1821266;1831328;1832254;1835738;1836824;1839310;1841262;1844802;1846196;2056098;2056100;2056102;2056104;2056106;2056108;2056110;2056112;2056114;2056116;2056118;2056120;2056122;2056124;2056126;2056128;2056130;2056132;2056134;2056136;2056138;2056140;2056142;2056144;2056146;2056148;2056150;2056152;2056154;2056156;2056158;2056160;2056162;2056164;2056166;2056168;2056170;2056172;2056174;2056176;2056178;2056180;2056182;2056184;2056186;2056188;2056190;2056192;2056194;2056196;2056198;2056200;2056202;2056204;2056206;2056208;2056210;2056212;2056214;2056216;2056218;2056220;2056222;2056224;2056226;2056228;2056230;2056232;2056234;2056236;2056238;2056240;2056242;2056244;2056246;2056248;2056250;2056252;2056254;2056256;2056258;2056260;2056262;2056264;2056266;2056268;2056270;2056272;2056274;2056276;2056278;2056280;2056282;2056284;2056286;2056288;2056290;2056292;2056294;2056296;2056298;2106110;2158864;2176982;2191818;2191820;2191822;2191824;2191826;2191828;2191830;2191832;2191834;2191836;2191838;2191840;2191842 D11S4036;ECD00473;ECD00903;ECD01210;ECD03124;ECD03959;ECD05106;ECD05462;ECD06119;ECD06572;ECD11713;ECD16800;ECD17265;ECD19029;ECD19576;ECD20836;ECD21827;ECD23617;ECD24318;G59542;REN99214;REN99215;REN99216;REN99217;REN99218;REN99219;REN99220;REN99221;REN99222;REN99223;REN99224;REN99225;REN99226;REN99227;REN99228;REN99229;REN99230;REN99231;REN99232;REN99233;REN99234;REN99235;REN99236;REN99237;REN99238;REN99239;REN99240;REN99241;REN99242;REN99243;REN99244;REN99245;REN99246;REN99247;REN99248;REN99249;REN99250;REN99251;REN99252;REN99253;REN99254;REN99255;REN99256;REN99257;REN99258;REN99259;REN99260;REN99261;REN99262;REN99263;REN99264;REN99265;REN99266;REN99267;REN99268;REN99269;REN99270;REN99271;REN99272;REN99273;REN99274;REN99275;REN99276;REN99277;REN99278;REN99279;REN99280;REN99281;REN99282;REN99283;REN99284;REN99285;REN99286;REN99287;REN99288;REN99289;REN99290;REN99291;REN99292;REN99293;REN99294;REN99295;REN99296;REN99297;REN99298;REN99299;REN99300;REN99301;REN99302;REN99303;REN99304;REN99305;REN99306;REN99307;REN99308;REN99309;REN99310;REN99311;REN99312;REN99313;REN99314;RH47745;SHGC-149868;SHGC-35504;STS-X82200;stSG611157;stSG611158;stSG611159;stSG611160;stSG611161;stSG611162;stSG611163;stSG611164;stSG611165;stSG611167;stSG611168;stSG611169;stSG611170;stSG611171 GPSTAF50;RNF94;STAF50 50 kDa-stimulated trans-acting factor;E3 ubiquitin-protein ligase TRIM22;OTTHUMP00000069823;OTTHUMP00000069826;RING finger protein 94;staf-50;stimulated trans-acting factor (50 kDa);tripartite binding motif 22;tripartite motif protein TRIM22;tripartite motif-containing 22;tripartite motif-containing protein 22 APPROVED protein-coding ENSG00000132274 HGNC:16379 05951 606559 REVIEWED 1348872 TRIM26BP tripartite motif containing 26B, pseudogene 6 6 6 p21 31804281 31808257 + 30206078 30210056 + 30238301 30242279 + 10557312 404024 AB023053;ABBA01038041;AL662782;AL662832;AL844220;AMYH02013427;BX248419;BX927189;CR388382;CT009520;NG_023052 TRIM26P;TRIM26P1 APPROVED pseudo HGNC:31338 INFERRED 1320820 TRIM27 tripartite motif containing 27 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming protein. [provided by RefSeq, Jul 2008] 6 6 6 p22 30476904 30497881 - 28870779 28891768 - 28903002 28923991 - 1580863;6480464 10504338;10976108;11331580;12445133;12477932;12787916;12807881;1437549;14530259;14574404;15489334;15837424;15907835;16007160;16169070;16186106;16189514;16196087;16393995;16475184;16713569;17049487;17156811;18248090;18985028;19060904;19232840;19351825;19549727;19851445;20211142;20526338;20864041;20972456;21078624;21139048;21143188;21145461;21890473;21963094;22053931;22082156;22128329;22493164;22505724;22556269;22829933;23000965;23036196;23105109;23342271;23419514;23452853;23752268;24047820;24255178;24722188;25025573;2734021;3037315;3078962;3380101;8114113;9247190;9570750;9923704 5987 H0Y551;P14373 AB209885;ABBA01038028;ABBA01038029;AF171101;AF230393;AF230394;AJ420519;AL662859;AL662871;AMYH02013403;AX776009;AX776011;BC013580;BC066924;BX000360;BX005144;BX119924;BX537153;CH471081;CR759942;CR936876;CR936883;CR936965;J03407;NM_006510;Z84474;Z84476 AAA36564;AAF32265;AAG50172;AAG50173;AAH13580;AAH66924;ABM81908;ABM85082;BAD93122;CAB06480;CAE11704;CAE11705;CAI19959;EAX03176;EAX03177;NP_006501;P14373 Hs.440382 1658169;1672328;2140081;2157208;2181248;5014865;5024413 A002Q18;D12S1332;D6S2188;L17877;RH46606;RH46783;WI-20464 RFP;RNF76 OTTHUMP00000029314;OTTHUMP00000107284;RFP transforming protein;RING finger protein 76;ret finger protein;tripartite motif protein TRIM27;tripartite motif-containing 27;tripartite motif-containing protein 27;zinc finger protein RFP APPROVED protein-coding ENSG00000204713 HGNC:9975 15996 602165 REVIEWED 1346405 TRIM26 tripartite motif containing 26 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011] 6 6 6 p21.3 31750448 31779361 - 30152232 30181271 - 30184455 30213494 - 1580863;6480464;8554872 11331580;12477932;14702039;15385968;15489334;16159877;16196087;16344560;17643375;17713163;18248090;19394292;19484123;19549727;19851445;20593013;20805509;21139048;21145461;21890473;21906983;21926974;21963094;21987572;21988832;22294275;22433715;22493164;22505724;22883433;22939629;23105109;23453885;23667531;24457600;24489884;8530076;9624122 7726 A2AE48;A2AE50;A2AE51;Q12899;Q5SPU2 AB088090;AB103596;AB202086;ABBA01038041;AK096996;AK122859;AK314782;AL662782;AL662832;AL671855;AL844220;AL845450;AMYH02013427;BA000025;BC021115;BC024039;BC032297;BX248419;BX927189;BX927221;CB988131;CH471081;CR388382;CR759838;CR788282;DA234548;NM_001242783;NM_003449;XM_005249374;XM_005249375;XM_005249376;XM_005249377;XM_005249378;XM_005272870;XM_005272871;XM_005272872;XM_005274887;XM_005274888;XM_005274890;XM_005274891;XM_005275022;XM_005275023;XM_005275025;XM_005275026;XM_005275159;XM_005275160;XM_005275161;XM_005275452;XM_005275453;XM_005275455;XM_005275456;XM_005275590;XM_005275591;XM_005275592;XM_005275593;XM_005275594;XM_006715180;XM_006725500 AAH24039;AAH32297;BAB63330;BAC54923;BAE78607;BAF31258;EAX03272;EAX03273;EAX03274;EAX03275;EAX03276;NP_001229712;NP_003440;Q12899;XP_005249431;XP_005249432;XP_005249433;XP_005249434;XP_005249435;XP_005272927;XP_005272928;XP_005272929;XP_005274944;XP_005274945;XP_005274947;XP_005274948;XP_005275079;XP_005275080;XP_005275082;XP_005275083;XP_005275216;XP_005275217;XP_005275218;XP_005275509;XP_005275510;XP_005275512;XP_005275513;XP_005275647;XP_005275648;XP_005275649;XP_005275650;XP_005275651;XP_006715243;XP_006725563 Hs.485041;Hs.731863 1677224;1729109;1779169;1790865;1853002;2119550;2139086;2165859;2189633;2220138;7184127 C5_2_3;D6S1944;D6S2198;D6S2267;D6S2704;D6S2848;RH17987;RH37470;RH93306;Trim26 AFP;FLJ16483;RNF95;ZNF173 OTTHUMP00000161458;OTTHUMP00000161459;OTTHUMP00000161460;RING finger protein 95;acid finger protein;tripartite motif-containing 26;tripartite motif-containing protein 26;widely expressed acid zinc finger protein;zinc finger protein 173 APPROVED protein-coding ENSG00000234127 HGNC:12962 02901 600830 REVIEWED 1317296 TRIM29 tripartite motif containing 29 The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 117140254 117167115 - 119981994 120056237 - 120111286 120138453 - 1580863;6480464;8554872 10719033;11331580;12477932;14702039;15231748;15489334;1609804;16189514;16890201;16964243;17448597;18854154;19249679;19430419;20083228;20211142;20360068;20368352;20379614;20454669;20947501;21463657;22138580;22490895;22721621;22969067;22990015;23020249;23201130;24078150;24469230;7530755;7644499;7836856;8125298;8188213;8406440;8647648 23650 B7Z8U9;E9PI31;E9PIQ2;E9PJ25;E9PJ94;E9PJD4;E9PLI4;E9PM74;E9PPX1;E9PRL4;H0YCK2;H0YCT2;H0YD78;H0YF27;Q14134 ABBA01039662;AF230388;AF230389;AK093404;AK122720;AK223090;AK299459;AK299472;AK303969;AL832678;AMYH02025675;AP000679;AP001360;BC010644;BC017352;CH471065;L24203;NM_012101;XM_005271487;XM_005271490 AAA35762;AAG50167;AAG50168;AAH10644;AAH17352;ABZ92472;ADZ15453;BAD96810;BAH13041;BAH13044;BAH14085;EAW67497;EAW67498;EAW67499;EAW67500;NP_036233;Q14134;XP_005271544;XP_005271547 Hs.504115 1647097;1659604;1714197;1725509;2111320;2132371;7185394 D11S2052;D11S3982;D11S528;RH119151;RH119709;RH17638 ATDC;FLJ36085 OTTHUMP00000179137;OTTHUMP00000231979;ataxia telangiectasia group D-associated protein;ataxia-telangiectasia group D-associated protein;tripartite motif protein TRIM29;tripartite motif-containing 29;tripartite motif-containing protein 29 APPROVED protein-coding ENSG00000137699 HGNC:17274 10280 610658 REVIEWED 1318479 TRIM31 tripartite motif containing 31 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to both the cytoplasm and the nucleus. Its function has not been identified. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31668926 31679124 - 30070674 30080867 - 30102897 30113095 - 1580863;6480464;8554872 11331580;12477932;14574404;14759258;15489334;16189514;16341674;16702430;16712791;18248090;19549727;19851445;20125193;20211142;21143188;21231912;21302343;22493164;23105109;23417110;24489884;24566900;8125298;8490624 11074 Q2L6J1;Q9BZY9 AB202083;AB303153;ABBA01038041;AF230386;AF230387;AK222729;AK290270;AL669914;AL671859;AMYH02013427;BC016866;BC017017;BM847963;BT006675;BX005441;BX088647;BX322644;BX897730;CB142265;CB147821;CH471081;CR753815;CR759801;CR759838;CR925727;CT009552;NM_007028;X81006;XM_006714977;XM_006714978;XM_006725470;XM_006725685;XM_006725686;XM_006725687;XM_006725804;XM_006725805;XM_006725806;XM_006725894;XM_006725895;XM_006725983;XM_006725984;XM_006726074;XM_006726075;XR_427824;XR_430855;XR_430933;XR_430971;XR_430994;XR_430995;XR_431012;XR_431041;XR_431042;Y07828 AAG50165;AAG50166;AAH16866;AAH17017;AAP35321;ABM85542;BAD96449;BAE78603;BAF82959;BAH58735;CAA69165;CAM26290;EAX03257;EAX03258;EAX03259;EAX03260;EAX03261;EAX03262;EAX03263;NP_008959;Q9BZY9;XP_006715040;XP_006715041;XP_006725533;XP_006725748;XP_006725749;XP_006725750;XP_006725867;XP_006725868;XP_006725869;XP_006725957;XP_006725958;XP_006726046;XP_006726047;XP_006726137;XP_006726138 Hs.493275 2220128 D6S2967 C6orf13;HCG1;HCGI;RNF E3 ubiquitin-protein ligase TRIM31;OTTHUMP00000029073;ring finger protein;tripartite motif-containing 31 gamma;tripartite motif-containing protein 31 APPROVED protein-coding ENSG00000204616 HGNC:16289 10281 609316 REVIEWED 736265 TRIM28 tripartite motif containing 28 The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 56099015 56105261 + 59055824 59062087 + 58544469 58550715 + 1580863;6480464;6484113;8554872 10022127;10330177;10347202;10562550;10653693;10748030;10938122;11013263;11154279;11226167;11230151;11331580;11331592;11336697;11585818;11959841;12096914;12154074;12411497;12438698;12477932;12682018;12684500;14761981;15161933;15302935;15489334;15576338;15596820;15635413;15882967;16107876;16150558;16169070;16196087;16568080;16792528;16945326;16954381;16964243;17056014;17079232;17081983;17141982;17178852;17266347;17314511;17353931;17403666;17512541;17542650;17620012;17620599;17623298;17643375;17704056;17803295;17942393;18037959;18060868;18082607;18248090;18381204;18488044;18590578;18676401;18781797;18854139;19156129;19279087;19321449;19394292;19471022;19584288;19596686;19656847;19690564;19710015;19738201;19850934;19898899;20020773;20032463;20053985;20081839;20085707;20176155;20221260;20360068;20424263;20508149;20508642;20562864;20675861;20858735;20864041;20936779;21081666;21098080;21139048;21145461;21170338;21228624;21245151;21252314;21252943;21277283;21319273;21343306;21343339;21382013;21549307;21642969;21652716;21669392;21669397;21670149;21693764;21704408;21791101;21853274;21876767;21888893;21890473;21906983;21940674;21963094;21987572;21988832;22055183;22118674;22178446;22205726;22268729;22412018;22491012;22496453;22505724;22513056;22542455;22623428;22715096;22863883;22939629;22959342;22972034;22975076;23000965;23022380;23060449;23096706;23125841;23134341;23184937;23254330;23402259;23443559;23455922;23543754;23548070;23569248;23645532;23645696;23665872;23862649;23863879;23991171;24018422;24250222;24278015;24332808;24434549;24457600;24583282;24654937;24657165;24696491;24816145;24866244;24907272;25015289;25027693;8125298;8769649;8986806;9016654;9742105;9774463 10155 M0QZE6;M0R0K9;M0R2I3;M0R3C0;Q13263 ABBA01020760;ABBA01020761;AC016630;AK131063;AK225760;AK313478;AL360114;AL360188;AL360189;AMYH02036539;BC004978;BC007390;BC052986;CH471135;NM_005762;U31657;U78773;U95040;X97548 AAA74954;AAB37341;AAB51517;AAH04978;AAH07390;AAH52986;BAG36262;CAA66150;EAW72605;EAW72606;EAW72607;NP_005753;Q13263 Hs.467408 1686208;1850931;2189477 Cda0zf05;D5S2433;MARC_7281-7282:992008298:1 FLJ29029;KAP-1;KAP1;KRIP-1;PPP1R157;RNF96;TF1B;TIF1-beta;TIF1B E3 SUMO-protein ligase TRIM28;KRAB [Kruppel-associated box domain]-associated protein 1;KRAB-associated protein 1;KRAB-interacting protein 1;RING finger protein 96;nuclear corepressor KAP-1;transcription intermediary factor 1-beta;transcriptional intermediary factor 1-beta;tripartite motif protein 28;tripartite motif-containing 28;tripartite motif-containing protein 28 APPROVED protein-coding ENSG00000130726 HGNC:16384 03445 601742 REVIEWED 1313150 TRIM32 tripartite motif containing 32 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008] 9 9 9 q33.1 90097223 90111221 + 119360147 119463579 + 116687302 116701300 + 1624127;1624129;1580863;6480464;6907045;7240710;8554872;8699517 11822024;16606853 11331580;12477932;12549820;15164053;15489334;15778465;15786463;16175175;16189514;16713569;16816390;17987106;17994549;18248090;18632609;18781797;19060904;19303295;19349376;19492423;19549727;19690564;19913121;20054338;20301537;20301582;20301743;20628086;20801516;21139048;21143188;21415862;21496629;21628460;21798009;21890473;21903422;21906983;21963094;21984809;21987572;22182411;22493164;22745133;22797925;22939624;23000965;23022380;23408431;23443559;23444366;23828567;24250222;24255178;24500717;24778252;24816145;25011449;25100564;7778269;9634523 22954 Q13049;Q5JVY0 ABBA01042642;AK314264;AL133284;AMYH02021540;AX775779;BC003154;BI544919;BX091494;CH471090;DN991209;GN088454;GN337714;NG_011619;NG_021409;NM_001099679;NM_012210;U18543;XM_005251813 AAA86474;AAH03154;ABM84007;ABM87341;CAE11589;CAX86996;CAY39310;EAW87446;EAW87447;NP_001093149;NP_036342;Q13049;XP_005251870 Hs.591910 1650037;2108595;2132993;2150532;5125522 G31091;RH18010;RH18537;SHGC-35384;TRIM32_8005 BBS11;HT2A;LGMD2H 72 kDa Tat-interacting protein;E3 ubiquitin-protein ligase TRIM32;OTTHUMP00000022763;OTTHUMP00000022764;TAT-interactive protein, 72-KD;TATIP;tripartite motif-containing 32;tripartite motif-containing protein 32;zinc finger protein HT2A;zinc-finger protein HT2A APPROVED protein-coding ENSG00000119401 HGNC:16380 03797 209900;254110;602290 REVIEWED 1316478 TRIM33 tripartite motif containing 33 The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p13.1 113164629 113283011 - 114935399 115053781 - 114392777 114511160 - 1580863;6480464;7240710;9479074;9479075;8699517;8554872 23642229;24686119 10022127;10439047;10470851;11331580;12096914;14527417;14702039;15146197;15820681;16710414;16751102;18003620;18029348;19135894;19322201;19471022;19629168;20158380;20447379;20603019;21139048;21145461;21252943;21382013;21474105;21537084;21597466;21693764;21726812;21890473;21963094;22046087;22123502;22196728;22205733;22461896;23000965;23154409;23160376;23275444;23407650;23667531;23676978;23788427;23926104;24037894;24189344;24307592;24382352;24515614;24583282;24654937;24657165;24820418;25027693;25059663 51592 B3KN30;E7EN20;H0Y612;Q9UPN9 AB029036;ABBA01068463;AF119043;AF220136;AF220137;AJ132948;AK021491;AK023434;AK057487;AK301997;AL035410;AL080216;AL390241;AMYH02001782;CH471122;CN267696;KF455019;KF510692;NG_023287;NM_015906;NM_033020;XM_005270936;XM_005270937 AAD17259;AAG53509;AAG53510;BAA83065;BAB13834;BAG51192;BAG63401;CAB55313;EAW56599;EAW56600;EAW56601;NP_056990;NP_148980;Q9UPN9;XP_005270993;XP_005270994 Hs.26837 1687243;1707840;1722461;1736913;1854918;2130912;2138830;2163651;2172409;2186567 AL009900;D1S2219;G61971;RH65165;SHGC-75347;SHGC-75356;SHGC-75362;SHGC-75367;SHGC-82151;WI-12516 ECTO;FLJ32925;PTC7;RFG7;TF1G;TIF1G E3 ubiquitin-protein ligase TRIM33;OTTHUMP00000013662;OTTHUMP00000013663;OTTHUMP00000013664;RET-fused gene 7 protein;TIF1-gamma;TIF1GAMMA;TIFGAMMA;ectodermin homolog;transcription intermediary factor 1-gamma;transcriptional intermediary factor 1 gamma;tripartite motif-containing 33;tripartite motif-containing protein 33 APPROVED protein-coding ENSG00000197323 HGNC:16290 10423 188550;605769 REVIEWED 6481049 TRIM36-IT1 TRIM36 intronic transcript 1 (non-protein coding) q22.3 100874338 AC008494 ncrna HGNC:41422 731725 TRIM3 tripartite motif containing 3 The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 6588902 6614265 - 6469843 6495689 - 6448613 6474459 - 68906;1580863;6480464;8554872 10391919 10673389;11170753;11331580;11513855;12477932;14702039;15772161;16341674;16344560;17081983;19165527;19250537;19460345;19690564;20173306;20543135;21143188;23105109;23318451;24086586;24163370;25011449;25015289 10612 B7Z5Y8;E9PMK8;E9PMW5;O75382 ABBA01028669;AC084337;AF045239;AF220020;AF220021;AF220022;AK122682;AK126685;AK291396;AK298843;AK299586;AK311127;AL122053;AL360185;AL360192;AMYH02024269;AMYH02024270;BC096827;BI916995;BM758857;BU500178;CH471064;DA089323;DA347370;DB344600;GN088458;GN337718;NM_001248006;NM_001248007;NM_006458;NM_033278 AAC24809;AAG53474;AAG53475;AAG53476;AAH96827;BAC86643;BAF84085;BAG53665;BAH12882;BAH13074;CAX86998;CAY39312;EAW68709;EAW68710;EAW68711;EAW68712;EAW68713;EAW68714;EAW68715;EAW68716;EAW68717;NP_001234935;NP_001234936;NP_006449;NP_150594;O75382 Hs.591992 1652014;1654463;1664309;1678705;1685920;2126269;2150150;2152826;2155216;2171572;2171574;2171576;2218116 D11S2266E;D11S2391;D11S4905;RH12618;RH44846;RH47384;RH71141;RH91168;SGC34546;SHGC-30684;STS-Z40796;TRIM3_3216;WI-22461 BERP;FLJ16135;HAC1;RNF22;RNF97 OTTHUMP00000164589;OTTHUMP00000229840;OTTHUMP00000229841;RING finger protein 97;brain expressed ring finger;brain-expressed RING finger protein;ring finger protein 22;tripartite motif protein 3;tripartite motif protein TRIM3;tripartite motif-containing 3;tripartite motif-containing protein 3 APPROVED protein-coding ENSG00000110171 HGNC:10064 605493 REVIEWED 1344257 TRIM35 tripartite motif containing 35 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. [provided by RefSeq, Jul 2008] 8 8 8 p21.2 26105312 26131742 - 27142404 27168834 - 27284887 27311317 - 1580863;6480464 10470851;11331580;12477932;12692137;14662771;15489334;16775307;18029348;18248090;19549727;19690564;22493164;23105109;23867815 23087 E5RGB3;H0YBF3;Q9UPQ4 AB029021;ABBA01005586;AC124649;AF492463;AK308236;AMYH02017669;BC018337;BC069226;CH471080;NM_171982;XM_005273451;XM_005273452;XM_005273453 AAH18337;AAH69226;AAO85480;ABZ92310;BAA83050;EAW63557;EAW63558;EAW63559;EAW63560;NP_741983;Q9UPQ4;XP_005273508;XP_005273509;XP_005273510 Hs.104223 1672634;1673419;1700736;2127279;2147136;2179994;5093964 A009Z35;G33026;RH103993;RH35960;RH46973;RH67896;SGC33557 HLS5;KIAA1098;MAIR;MGC17233 OTTHUMP00000128221;OTTHUMP00000225153;hemopoietic lineage switch protein 5;tripartite motif-containing 35;tripartite motif-containing protein 35 APPROVED protein-coding ENSG00000104228 HGNC:16285 15553 VALIDATED 1318648 TRIM36 tripartite motif containing 36 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q22.3 110407870 110463650 - 114460459 114516243 - 115124762 115180546 - 1580863;6480464;8554872 11331580;12477932;15145053;15955891;19232519;19549727;20379614;22939624;23333304 55521 D6RAU9;E9PBG3;Q9NQ86 AB196558;ABBA01069036;AC008494;AC094104;AI142389;AJ272269;AK058179;AK125426;AK296389;AK316422;AMYH02011997;BC017346;BC045164;BC046096;BC130334;BF592910;CH471086;DC397736;KC877071;NM_001017397;NM_001017398;NM_001300752;NM_001300759;NM_018700;XM_005272031;XM_005272034 AAH45164;AAH46096;AAI30335;BAD99605;BAH12340;BAH14793;CAB94831;EAW48971;EAW48972;NP_001017397;NP_001017398;NP_001287681;NP_001287688;NP_061170;Q9NQ86;XP_005272088;XP_005272091 Hs.519514;Hs.638953 1687886;1688678;1721487;2108969;2180465;5094955 FB25G10;G59597;RH92001;RH94386;TRIM36;TRIM36_8064 RBCC728;RNF98 E3 ubiquitin-protein ligase TRIM36;HAPRIN;OTTHUMP00000159132;OTTHUMP00000222915;OTTHUMP00000222916;OTTHUMP00000222917;OTTHUMP00000222918;OTTHUMP00000222919;RING finger protein 98;tripartite motif protein 36;tripartite motif-containing 36;tripartite motif-containing protein 36;zinc-binding protein Rbcc728 APPROVED protein-coding ENSG00000152503 HGNC:16280 15554 609317 REVIEWED 1349740 TRIM38 tripartite motif containing 38 This gene encodes a member of the tripartite motif (TRIM) family. The encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Jul 2012] 6 6 6 p21.3 27190286 27212582 + 25962917 25987557 + 25962689 25987329 + 1580863;6480464 11331580;11854271;12477932;12761501;15489334;16344560;18248090;19084217;19322201;19690564;21143188;21306652;21348951;21789858;21963094;21988832;22323536;22505724;23056470;23275563;24434549;9149941 10475 O00635 AB209906;ABBA01066552;AK313248;AMYH02013345;AMYH02013346;BC026930;BX640949;CH471087;CR936707;DA603151;KC877159;NM_006355;U90547;U91328;XM_005248799;XM_005248800;XR_241880 AAB53425;AAB82084;AAH26930;ABM85844;ABW03748;ACE86652;ACE87334;BAD93143;BAG36059;CAE45973;EAW55501;EAW55502;EAW55503;EAW55504;EAW55505;EAW55506;NP_006346;O00635;XP_005248856;XP_005248857 Hs.584851;Hs.742026 1697450;1777664;1785886;2136381;2180590;5037552 D6S1074;D8S2279;RH102226;RH47677;SHGC-132992;SHGC-58405 MGC8946;RNF15 OTTHUMP00000016131;RORET;Ro/SSA ribonucleoprotein homolog;ring finger protein 15;tripartite motif-containing 38;tripartite motif-containing protein 38;zinc finger protein RoRet;zinc-finger protein RoRet APPROVED protein-coding ENSG00000112343 HGNC:10059 15555 REVIEWED 1322062 TRIM34 tripartite motif containing 34 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. Expression of this gene is up-regulated by interferon. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from the upstream TRIM6 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010] 11 11 11 p15 5759992 5784582 + 5641174 5665628 + 5619944 5644398 + 6480464 11013086;11331580;12477932;14702039;16344560;16775307;16828831;17156811;18159944;19549727;19690564;21680743;21906983;21963094;22493164;22505724;23105109 53840 Q9BYJ4 AB039902;AB039904;ABBA01028655;AC015691;AF220143;AF220144;AK027876;AL583914;AMYH02024261;AX883346;BG682537;BM989990;CH471064;DA847894;DB024660;NM_001003827;NM_021616;NM_130390 AAG53516;AAG53517;AAI56771;BAB17049;BAB17051;BAB55424;CAC29498;CAE91937;EAW68778;EAW68779;EAW68780;NP_001003827;NP_067629;NP_569074;Q9BYJ4 Hs.729048 1799750;1804342;1804398;1807762;1808382;1813734;1814920;1819910;1819912;1821058;1821648;1823756;1824804;1825442;1825604;1828530;1828784;1829056;1829628;1831744;1832026;1832214;1837702;1840448;1840720;1845656;2054556;2054558;2054560;2054562;2055544;2055546;2055548;2055550;2055552;2055554;2055556;2055558;2055560;2055562;2055564;2055566;2055568;2055570;2055572;2055574;2055576;2055578;2055580;2055582;2055584;2055586;2055588;2055590;2055592;2055594;2055596;2055598;2055600;2055602;2055604;2055606;2055608;2055610;2055612;2055614;2055616;2055618;2055620;2055622;2055624;2055626;2055628;2055630;2055632;2055634;2055636;2055638;2055640;2055642;2055644;2055646;2055648;2055650;2055652;2055654;2055656;2055658;2055660;2055662;2055664;2055666;2055668;2055670;2055672;2055674;2055676;2055678;2055680;2055682;2055684;2055686;2055688;2055690;2055692;2055694;2055696;2055698;2055700;2055702;2055704;2055706;2055708;2055710;2055712;2055714;2055716;2055718;2055720;2055722;2055724;2055726;2055728;2055730;2055732;2055734;2055736;2055738;2055740;2055742;2055744;2055746;2055748;2055750;2055752;2055754;2055756;2055758;2055760;2055762;2105840;2106014;2106016;2106018;2106020;2106022;2106024;2106026;2106028;2106030;2106032;2106034;2106036;2106038;2106040;2106042;2106044;2106046;2106048;2106050;2106052;2106054;2106056;2106058;2108597 ECD00729;ECD03095;ECD03123;ECD04854;ECD05172;ECD07890;ECD08491;ECD11026;ECD11027;ECD11606;ECD11910;ECD12970;ECD13501;ECD13828;ECD13910;ECD15392;ECD15519;ECD15655;ECD15946;ECD17009;ECD17151;ECD17245;ECD20019;ECD21410;ECD21551;ECD24046;REN98440;REN98441;REN98442;REN98443;REN98936;REN98937;REN98938;REN98939;REN98940;REN98941;REN98942;REN98943;REN98944;REN98945;REN98946;REN98947;REN98948;REN98949;REN98950;REN98951;REN98952;REN98953;REN98954;REN98955;REN98956;REN98957;REN98958;REN98959;REN98960;REN98961;REN98962;REN98963;REN98964;REN98965;REN98966;REN98967;REN98968;REN98969;REN98970;REN98971;REN98972;REN98973;REN98974;REN98975;REN98976;REN98977;REN98978;REN98979;REN98980;REN98981;REN98982;REN98983;REN98984;REN98985;REN98986;REN98987;REN98988;REN98989;REN98990;REN98991;REN98992;REN98993;REN98994;REN98995;REN98996;REN98997;REN98998;REN98999;REN99000;REN99001;REN99002;REN99003;REN99004;REN99005;REN99006;REN99007;REN99008;REN99009;REN99010;REN99011;REN99012;REN99013;REN99014;REN99015;REN99016;REN99017;REN99018;REN99019;REN99020;REN99021;REN99022;REN99023;REN99024;REN99025;REN99026;REN99027;REN99028;REN99029;REN99030;REN99031;REN99032;REN99033;REN99034;REN99035;REN99036;REN99037;REN99038;REN99039;REN99040;REN99041;REN99042;REN99043;REN99044;REN99045;TRIM34_8052;stSG611015;stSG611107;stSG611108;stSG611109;stSG611110;stSG611111;stSG611112;stSG611113;stSG611114;stSG611115;stSG611116;stSG611117;stSG611118;stSG611119;stSG611120;stSG611121;stSG611122;stSG611123;stSG611124;stSG611125;stSG611126;stSG611127;stSG611128;stSG611129 IFP1;RNF21 OTTHUMP00000069809;OTTHUMP00000069810;interferon-responsive finger protein 1;ring finger protein 21, interferon-responsive;tripartite motif-containing 34;tripartite motif-containing protein 34 APPROVED protein-coding ENSG00000258659 HGNC:10063 16141 605684 REVIEWED 5013861 TRIM39-RPP21 TRIM39-RPP21 readthrough This locus represents naturally occurring read-through transcription between the neighboring TRIM39 (tripartite motif-containing 39) and RPP21 (ribonuclease P/MRP 21kDa subunit) genes on chromosome 6. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 6 6 30297088 30314635 + 30329311 30346858 + 6480464;8554872 17601797;20967262;23707810 202658 A6ZJ12 ABBA01038041;AI805914;AL662795;AL662832;AL773535;AMYH02013430;BX248580;BX294158;BX927214;CR759281;CR759928;EU012025;NM_001199119 ABR92635;NP_001186048 Hs.413493 5016785 RH94264 TRIM39R OTTHUMP00000219787;Rpp21 domain-containing TRIM protein;TRIM39-RPP21 read-through transcript APPROVED protein-coding ENSG00000248167 HGNC:38845 VALIDATED 1346356 TRIM40 tripartite motif containing 40 This gene encodes a member of the tripartite motif (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014] 6 6 6 p22.1 31702776 31714781 + 30103885 30116512 + 30136108 30148735 + 6480464 12477932;15489334;16702430;19851445;20593013;21474709;21832049;24489884;24639526 135644 Q6P9F5 AB110939;AB110940;AB202084;ABBA01038041;AF489517;AL669914;AL671859;AMYH02013427;BC060785;BX005441;BX322644;BX927221;CB990357;CH471081;CR753815;CR759838;CR788282;NG_033972;NM_001286633;NM_138700 AAH60785;AAM09503;ABZ92099;BAD13705;BAD13706;BAE78604;EAX03265;EAX03266;NP_001273562;NP_619645;Q6P9F5 Hs.509439 2220132;2220134 D6S2849;D6S2965 RNF35 OTTHUMP00000029098;OTTHUMP00000161347;RING finger protein 35;probable E3 NEDD8-protein ligase;ring finger RNF35;ring finger protein 40;tripartite motif-containing 40;tripartite motif-containing protein 40 APPROVED protein-coding ENSG00000204614 HGNC:18736 15557 REVIEWED 1353293 TRIM42 tripartite motif containing 42 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008] 3 3 3 q23 138820504 138843650 + 140396866 140419992 + 140678024 140701150 + 1580863;6480464;8554872 11331580;12477932;14702039;18029348;18976975;19010793;19389623;20379614;24322204;24722188 287015 Q8IWZ5 ABBA01059055;AC026324;AF521868;AK097416;AK310536;AL833848;AMYH02007796;AMYH02007797;BC130472;BC130474;BX093220;CH471052;DC397052;NM_152616;XM_006713608 AAI30473;AAI30475;AAO14945;BAC05042;CAD38707;EAW79015;NP_689829;Q8IWZ5;XP_006713671 Hs.343487 FLJ40097;MGC163346;PPP1R40 OTTHUMP00000217719;protein phosphatase 1, regulatory subunit 40;tripartite motif-containing 42;tripartite motif-containing protein 42 APPROVED protein-coding ENSG00000155890 HGNC:19014 15559 REVIEWED 1353905 TRIM43 tripartite motif containing 43 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 2 2 2 q11.1 1049 2824 - 96257766 96265471 + 95592018 95599771 + 1580863;6480464 12477932;15489334;19549727;19690564;21139048;21988832;22493164 129868 Q96BQ3 ABBA01009504;AC009237;AMYH02004307;BC015353;CH471207;NM_138800;XM_006712262 AAH15353;AAY14782;ABZ92545;EAW71320;NP_620155;Q96BQ3;XP_006712325 Hs.232026 1647910;1754681 D2S1303;SHGC-133037 TRIM43A OTTHUMP00000160952;tripartite motif-containing 43;tripartite motif-containing protein 43 APPROVED protein-coding ENSG00000144015 HGNC:19015 15560 PROVISIONAL 1318066 TRIM37 tripartite motif containing 37 This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. The gene mutations are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q23.2 53522345 53646906 - 57059999 57184266 - 58982638 59106905 - 1599667;1580863;6480464;6907045;7240710;8554872;8699517 10888877 10048485;11279055;11331580;11578880;11938494;12477932;12754710;14702039;15108285;15146197;15489334;15885686;16189514;16306379;16310976;16713569;17081983;17100991;17551331;19322201;19329943;19447967;19549727;19690564;21139048;21143188;21906983;21988832;22939624;23385855;23443559;23666239;24250222;24255178;24317724;24722188;9106536 4591 A8K0V9;A8K8U4;F8WEE6;J3KS72;J3KT32;J3KT90;J3QRK3;J3QSA0;J3QSF6;J3QSH5;O94972 AB020705;ABBA01041356;ABBA01041357;ABBA01041358;ABBA01041359;ABBA01041360;AC005207;AC036154;AC099850;AC100832;AF213365;AI307801;AK022701;AK025648;AK289674;AK292459;AK294850;AMYH02033698;AMYH02033699;AMYH02033700;AMYH02033701;AMYH02033702;BC036012;BG722700;BQ447834;BX537955;CH471109;CN388771;DC351295;NG_009298;NM_001005207;NM_015294;XM_005257385;XM_005257386;XM_005257387;XM_005257388;XM_005257389;XM_005257390 AAH36012;AAL36460;BAA74921;BAF82363;BAF85148;BAG51105;BAG57954;CAD97922;EAW94424;EAW94425;EAW94426;EAW94427;NP_001005207;NP_056109;O94972;XP_005257442;XP_005257443;XP_005257444;XP_005257445;XP_005257446;XP_005257447 Hs.579079 1647425;1647427;1654428;1659069;1662594;1690035;1691714;1691724;1691758;1734414;1734502;1743293;1794014;1847679;2131468;2165957;2177647;2219552;5091722;5092880 A005U07;A007E14;A009B30;D17S1389E;D17S1449E;D17S1670;D17S1680;G20499;G32388;G42202;G42207;G42231;GDB:314385;GDB:314677;PMC310730P3;PPM1E__5569;RH11893;RH91179;WI-15527;WI-18603 KIAA0898;MUL;POB1;TEF3 E3 ubiquitin-protein ligase TRIM37;RING-B-box-coiled-coil protein;mulibrey nanism protein;tripartite motif-containing 37;tripartite motif-containing protein 37 APPROVED protein-coding ENSG00000108395 HGNC:7523 05463 253250;605073 REVIEWED 1318911 TRIM41 tripartite motif containing 41 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM family is characterized by a signature motif composed of a RING finger, one or more B-box domains, and a coiled-coil region. This encoded protein may play a role in protein kinase C signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 5 5 5 q35.3 176278161 176290662 + 180650263 180662808 + 181223263 181235808 + 1580863;6480464;8554872 11549288;12477932;14702039;15489334;15498874;16022281;16169070;16189514;16344560;16565220;17893151;19549727;19953087;20098747;21832049;21906983;22493164;22505724;22939624;23602568;24255178;24457600 90933 D6REK2;H0Y9T3;H0YAD6;Q8WV44 AB063180;AB100366;AB100367;ABBA01010096;ABBA01010097;AC008443;AF258579;AK027601;AK074052;AK307695;AL137593;AL832960;AMYH02012917;AMYH02012918;AX775789;AX775791;AX775793;AX775797;AX775799;AX775801;AX775803;BC004956;BC009762;BC018765;BC071887;BC090953;BC111568;BC127195;BM457526;BX396615;CA430637;CH471165;CR457349;DA341383;NG_030346;NM_033549;NM_201627;NR_045218;XM_006714929;XM_006714930;XM_006714931;XM_006714932 AAG23782;AAH04956;AAH09762;AAH18765;AAH71887;AAH90953;AAI27196;ABM83446;BAB70617;BAB84878;BAD07472;BAD07473;BAG51358;CAB70832;CAE11594;CAE11595;CAE11596;CAE11598;CAE11599;CAE11600;CAE11601;CAG33630;CAH56279;EAW53707;EAW53708;EAW53709;EAW53710;EAW53711;EAW53712;EAW53713;EAW53714;NP_291027;NP_963921;Q8WV44;XP_006714992;XP_006714993;XP_006714994;XP_006714995 Hs.441488;Hs.700303 1645179;1648214;2108599;2116380;2160550 D5S1648E;L28233;RH12310;SGC31965;TRIM41_8121 MGC1127;MGC31991;RINCK E3 ubiquitin-protein ligase TRIM41;OTTHUMP00000161585;OTTHUMP00000161586;OTTHUMP00000223701;OTTHUMP00000223702;RING finger-interacting protein with C kinase;RING-finger protein that interacts with C kinase;tripartite motif-containing 41;tripartite motif-containing protein 41 APPROVED protein-coding ENSG00000146063 HGNC:19013 15558 610530 REVIEWED 2311728 TRIM43B tripartite motif containing 43B This gene encodes a member of a family of proteins containing RING-finger, SPRY, and BBC domains. There is no definitive support for transcription of this locus, and the transcript structure is inferred from other family members. [provided by RefSeq, Oct 2009] 2 2 2 q11.1 92133690 92141541 - 96142715 96150479 - 95476967 95484731 - 6480464 15815621 653192 A6NCK2 ABBA01009503;AC009237;AMYH02004307;NM_001164464;XM_006712707 A6NCK2;NP_001157936;XP_006712770 Hs.723811 1647910;1754681 D2S1303;SHGC-133037 Tripartite motif-containing protein 43-like protein 1;tripartite motif-containing 43B;tripartite motif-containing protein 43B APPROVED protein-coding HGNC:37146 PROVISIONAL 1345253 TRIM39 tripartite motif containing 39 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31892811 31909701 + 30294227 30311506 + 30326844 30343729 + 1580863;6480464;8554872 11006080;11331580;12477932;15489334;16094384;16189514;16344560;17474147;17601797;19094064;19100260;19549727;19851445;20875797;21832049;21890473;22493164;22529100;23077635;23105109;23213251;23213260;23455924;23707810;24250222 56658 A2AAZ2;A2AAZ3;A2AAZ4;A2AAZ5;A2AAZ6;H0Y735;Q9HCM9 AB046381;AB110937;AB110938;AB202089;ABBA01038041;AI159923;AK292512;AL662795;AL662832;AL773535;AMYH02013430;AX776007;BC007661;BC034985;BT007370;BX248580;BX294158;BX927214;CH471081;CR759281;CR759928;DB071507;NM_021253;NM_172016 AAH07661;AAH34985;AAP36034;BAB16374;BAD13703;BAD13704;BAE78608;BAF85201;CAE11703;EAX03283;EAX03284;EAX03285;EAX03286;NP_067076;NP_742013;Q9HCM9 Hs.413493 1650989;1700434;1786130 RH103838;RH46602;SHGC-172553 MGC32984;RNF23;TFP;TRIM39B E3 ubiquitin-protein ligase TRIM39;OTTHUMP00000029075;OTTHUMP00000029076;OTTHUMP00000163582;OTTHUMP00000163583;OTTHUMP00000163588;ring finger protein 23;testis-abundant finger protein;tripartite motif-containing 39;tripartite motif-containing protein 39 APPROVED protein-coding ENSG00000204599 HGNC:10065 09298 605700 REVIEWED 6483755 TRIM43CP tripartite motif containing 43C, pseudogene 2 2 2 q11.2 92133685 92141541 - 97691563 97697383 - 97025826 97031646 - 643445 ABBA01036563;AC018892;AMYH02004340;NG_028773 pseudo HGNC:43981 INFERRED 1351905 TRIM4 tripartite motif containing 4 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternatively spliced transcript variants that encode different isoforms have been described.[provided by RefSeq, Jul 2010] 7 7 7 q22-q31.1 94222568 94251765 - 99488030 99517223 - 99890407 99919600 - 1580863;6480464;8554872 11331580;12477932;12690205;12853948;14702039;15489334;16314882;17156811;18029348;19658100;21110914;21139048;21533175;21680743;21886157;21906983;22053931;22493164;22505724;22797925 89122 B4DEC5;H7C0Q6;Q9C037 ABBA01013242;AC011904;AF220023;AF220024;AK092892;AK293565;AMYH02016369;BC011763;BC025949;CH236956;CH471091;NM_033017;NM_033091 AAG53477;AAG53478;AAH11763;AAH25949;AAS07396;AAS07397;AAS07398;BAG52624;BAG57036;EAL23864;EAL23865;EAW76625;EAW76626;EAW76627;EAW76628;NP_148977;NP_149082;Q9C037 Hs.50749 1338533;1649287;1656305;1674706;1700560;1775040;1798298;7186897 D7S2498;GDB:1317228;NIB1997;RH103901;SHGC-34844;SHGC-36880;TRIM4_2288 RNF87 OTTHUMP00000210300;OTTHUMP00000210301;OTTHUMP00000210302;OTTHUMP00000210303;RING finger protein 87;tripartite motif protein 4;tripartite motif protein TRIM4;tripartite motif protein TRIM4 isoform alpha;tripartite motif-containing 4;tripartite motif-containing protein 4 APPROVED protein-coding ENSG00000146833 HGNC:16275 15556 REVIEWED 1312571 TRIM44 tripartite motif containing 44 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008] 11 11 11 p13 35831618 35978179 + 35684353 35830930 + 35662692 35811053 + 1580863;6480464;8554872 10568747;11165382;11331580;12477932;14702039;15489334;16341674;16344560;16554811;17577209;18781797;18854154;19358823;19875103;19953087;20379614;21145461;21832049;21890473;21906983;21963094;22862969;23000965;23460740 54765 Q96DX7 ABBA01060855;ABBA01060856;AC026970;AC090692;AJ249128;AK021823;AK074242;AL138812;AMYH02024596;AMYH02024597;AMYH02024598;BC013166;BC024031;BM787577;CH471064;DA131915;DA208113;KF510370;KF510371;NM_017583;XM_006718254 AAH13166;AAH24031;ABM81987;ABM85167;CAB65108;EAW68133;EAW68134;EAW68135;NP_060053;Q96DX7;XP_006718317 Hs.192103 1338944;1672625;1675277;1695404;1715417;1763225;1769617;1782408;2110935;2143252;2218118;7183849 D11S1201;D11S4203;D11S981E;RH120541;RH64981;SHGC-146955;SHGC-154777;SHGC-57397;SHGC-68523;TRIM44_3837;WI-12351 DIPB;HSA249128;MC7;MGC3490 OTTHUMP00000232572;tripartite motif-containing 44;tripartite motif-containing protein 44 APPROVED protein-coding HGNC:19016 15561 612298 REVIEWED 1319359 TRIM45 tripartite motif containing 45 This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009] 1 1 1 p13.1 115882285 115893019 - 117653677 117664411 - 117111055 117121789 - 1580863;6480464;8554872 12477932;14702039;15351693;15489334;16710414;17370265;18029348;18673550;19322201;21143188;22634006;24681954;8125298 80263 H0YCA7;Q5T2K3;Q9H8W5;S4R407 ABBA01068499;AK023243;AK222901;AL391476;AMYH02001796;AY669488;BC034943;BU165629;CH471122;EC541819;NG_028008;NM_001145635;NM_025188;XR_246297 AAH34943;AAT76864;ABZ92546;BAB14484;BAD96621;EAW56668;EAW56669;NP_001139107;NP_079464;Q9H8W5 Hs.301526 5022450;5022578;5024039 D10S275;D16S325;D1S1423 FLJ13181;RNF99 OTTHUMP00000013949;OTTHUMP00000013950;OTTHUMP00000013951;ring finger protein 99;tripartite motif-containing 45;tripartite motif-containing protein 45 APPROVED protein-coding ENSG00000134253 HGNC:19018 15562 609318 REVIEWED 1322764 TRIM47 tripartite motif containing 47 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; aflatoxin B1 17 17 17 q25 70460294 70464705 - 73870242 73874683 - 75874161 75878599 - 1580863;6480464 11511098;12477932;15489334;16964243;17081983;19542561;19690564;20811636;21681796;21832049;21906983;21963094;21987572;22493164;22797925;22863883 91107 K7EJ63;K7EQ30;Q96LD4 ABBA01028767;AC087289;AMYH02034001;AY026763;BC006153;BC009225;BC017299;BG385464;CH471099;NM_033452;XM_005257787;XM_005257788 AAH06153;AAH09225;AAH17299;AAK07687;EAW89330;EAW89331;EAW89332;NP_258411;Q96LD4;XP_005257844;XP_005257845 Hs.293660 2164535 RH36168 GOA;RNF100 RING finger protein 100;gene overexpressed in astrocytoma protein;tripartite motif-containing 47;tripartite motif-containing protein 47 APPROVED protein-coding ENSG00000132481 HGNC:19020 15564 611041 VALIDATED 1343096 TRIM48 tripartite motif containing 48 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH benzo[a]pyrene; calcitriol; testosterone 11 11 11 q11 52373082 52382021 + 55029658 55038595 + 55262182 55271119 + 1580863;6480464;8554872 12477932;15489334;21139048 79097 Q8IWZ4 ABBA01021455;AF521869;AP005597;BC001862;CH471076;NM_024114 AAH01862;AAO14946;ABZ92054;ADZ15476;EAW73670;EAW73671;NP_077019;Q8IWZ4 Hs.195715 MGC4827;RNF101 OTTHUMP00000211295;RING finger protein 101;tripartite motif-containing 48;tripartite motif-containing protein 48 APPROVED protein-coding ENSG00000150244 HGNC:19021 15565 VALIDATED 1352670 TRIM49 tripartite motif containing 49 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This gene has been found to be preferentially expressed in testis. Related pseudogenes and gene duplicates have also been identified on chromosome 11. [provided by RefSeq, Aug 2010] 11 11 11 p11.12-q12 443 3343 + 89530823 89541743 - 89797655 89808575 - 6480464;8554872 11018261;12477932;15489334;16554811;22144910;22939624;23006423;23708797 57093 E9PK69;P0CI25 AB037682;ABBA01193642;AMYH02025270;AP004833;BC075019;BC075020;BC126472;CH471064;JF968461;NM_020358 AAH75019;AAH75020;AAI26473;ABZ92357;ADR82876;AFI99097;BAB03503;EAW67863;NP_065091;P0CI25 Hs.534218 RNF18;TRIM49A;TRIM49L2 OTTHUMP00000236385;ring finger protein 18;testis-specific RING Finger protein;testis-specific ring-finger protein;tripartite motif-containing 49;tripartite motif-containing protein 49 APPROVED protein-coding ENSG00000168930 HGNC:13431 05840 606124 REVIEWED 6483615 TRIM49B tripartite motif containing 49B ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred); INTERACTS WITH clofibrate (ortholog) 11 11 11 p11.12 49201744 49242209 + 49053152 49059529 + 49031600 49037977 + 6480464 19850743;22144910 283116 A6NDI0 ABBA01060670;AC084851;AMYH02024762;JF968463;NM_001206626 AFI99099;NP_001193555 Hs.448644 1712883 RH121076 tripartite motif-containing protein protein-coding ENSG00000182053 HGNC:42955 VALIDATED 4143019 TRIM49C tripartite motif containing 49C ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH clofibrate (ortholog) 11 11 11 q14.3 85128446 85131645 + 89764274 89775193 + 90031106 90042025 + 6480464;8554872 12477932;15489334;15815621;16554811;22144910 642612 P0CI26 AMYH02025298;AMYH02025299;AMYH02025300;AMYH02025301;AMYH02025302;AP004607;BC126470;JF968462;NM_001195234 AAI26471;AFI99098;NP_001182163;P0CI26 Hs.740080 MGC161748;TRIM49L2 OTTHUMP00000236388;Tripartite motif-containing protein LOC642612;tripartite motif containing 49-like 2;tripartite motif-containing 49-like;tripartite motif-containing 49-like 2;tripartite motif-containing protein 49-like protein 2;tripartite motif-containing protein 49C APPROVED protein-coding ENSG00000204449 HGNC:38877 VALIDATED 6483629 TRIM49D1 tripartite motif containing 49D1 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred) 11 11 q14.3 89644640 89650878 - 89911472 89917710 - 22144910 399939 C9J1S8 ABBA01006477;AMYH02025279;AP004607;AP005814;BX116917;JF968447;NM_001206627 AFI99090;NP_001193556 Hs.448674;Hs.705301 TRIM49D;TRIM49D1P;TRIM49DP tripartite motif containing 49D, pseudogene;tripartite motif containing 49D1, pseudogene APPROVED protein-coding ENSG00000223417 HGNC:43973 PROVISIONAL 1350301 TRIM51 tripartite motif-containing 51 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred); INTERACTS WITH benzo[a]pyrene; cadmium atom; clofibrate (ortholog) 11 11 11 q11 52990925 52999456 + 55650773 55659286 + 55883297 55891810 + 6480464 12477932;16189514;21139048;22144910 84767 Q9BSJ1 ABBA01021460;AC036111;AMYH02024829;BC005014;CH471076;DV080293;DV080294;JF968454;NM_032681 AAH05014;AFI99093;EAW73688;EAW73689;NP_116070;Q9BSJ1 Hs.326734 1724511 RH122515 MGC10977;SPRYD5;TRIM51A OTTHUMP00000209888;OTTHUMP00000210017;OTTHUMP00000234207;SPRY domain containing 5;SPRY domain-containing protein 5;tripartite motif-containing protein 51 APPROVED protein-coding ENSG00000124900 HGNC:19023 10282 VALIDATED 2311725 TRIM51BP tripartite motif-containing 51B, pseudogene 11 11 q14.3 89586008 89596233 + 89852840 89863065 + 16554811 399937 ABBA01142863;AP004833;AP005435;NG_011760 SPRYD5P;SPRYD5P1 APPROVED pseudo HGNC:37145 VALIDATED 6483757 TRIM51CP tripartite motif-containing 51C, pseudogene 11 11 11 p11.12 49117197 49123400 + 48967236 48973620 + 48945684 48952068 + 100130105 ABBA01060671;AC027369;AMYH02024761;NG_028918 1751165 SHGC-105062 pseudo HGNC:43968 INFERRED 6483761 TRIM51DP tripartite motif-containing 51D, pseudogene 11 11 11 50048985 50049490 + 49897685 49898190 + 49876133 49876638 + 100419945 ABBA01060664;AMYH02024766;AP006587;NG_024491 pseudo HGNC:43969 INFERRED 1314352 TRIM46 tripartite motif containing 46 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; 3,3',5-triiodo-L-thyronine 1 1 1 q22 128217624 128228710 + 155145702 155157447 + 155173787 155184971 + 1580863;6480464;8554872 12477932;14702039;15146197;15489334;16169070;16344560;16434393;19549727;20467438;21900206;22493164;23105109;23263486;24250222;8125298 80128 B7Z3S2;B7Z4F9;B7Z975;F5GYK0;Q5VT61;Q7Z4K8 ABBA01016713;ABBA01016714;AC234582;AK026882;AK090504;AK096158;AK128139;AK225075;AK296300;AK297318;AK304542;AK308075;AK308637;AK309699;AK310429;AL607067;AL713999;AMYH02001941;AY251386;BC069416;BC069568;BC126372;BC143828;BX283909;CH471121;CN259033;DA509424;DB262381;DB326530;NM_001256599;NM_001256600;NM_001256601;NM_001282378;NM_001282379;NM_025058;NR_046327;NR_046329;NR_104150 AAH69416;AAH69568;AAI26373;AAP51206;BAB15580;BAC87293;BAH12308;BAH12545;BAH14211;EAW53120;EAW53121;EAW53122;EAW53123;NP_001243528;NP_001243529;NP_001243530;NP_001269307;NP_001269308;NP_079334;Q7Z4K8 Hs.287735 1680437;2121347;2128355 RH18512;RH64529;RH92624 FLJ23229;FLJ33185;FLJ98678 GENEY;OTTHUMP00000033782;OTTHUMP00000033783;OTTHUMP00000033784;OTTHUMP00000033785;TRIFIC;gene Y protein;tripartite motif-containing 46;tripartite motif-containing protein 46;tripartite, fibronectin type-III and C-terminal SPRY motif protein APPROVED protein-coding ENSG00000163462 HGNC:19019 15563 600986 VALIDATED 6483694 TRIM51EP tripartite motif-containing 51E, pseudogene 11 11 q14.3 89714614 89722727 - 89981446 89989559 - 15146197 399940 AP004607;CN265001;XR_159129 Hs.738794 1751165 SHGC-105062 pseudo HGNC:43970 MODEL 6483676 TRIM51GP tripartite motif-containing 51G, pseudogene 11 11 11 p11.12 49148352 49154615 - 48996878 49005378 - 48975326 48983826 - 20379614;22144910 120824 ABBA01060670;AC027369;AMYH02024762;CH471064;NG_033009 EAW67864 1751165 SHGC-105062 pseudo HGNC:43972 INFERRED 6483692 TRIM51FP tripartite motif-containing 51F, pseudogene ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred) 11 11 11 p11.12 50005771 50011957 - 49854518 49860882 - 49832966 49839330 - 16554811 283257 ABBA01060664;AC130364;AMYH02024766;NG_028915 A6NDI0 1715151;1724511 RH119826;RH122515 RNF18B;TRIM49B pseudo HGNC:43966 INFERRED 735660 TRIM50 tripartite motif containing 50 ENCODES a protein that exhibits ligase activity (inferred); zinc ion binding (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH carmustine; temozolomide; ammonium chloride (ortholog) 7 7 7 q11.23 68204827 68220367 - 72726532 72742085 - 73312536 73328082 - 1580863;6480464;8554872 12477932;12853948;14702039;16344560;18029348;18398435;21143188;22610502;22792322;24308962 135892 B7ZLG2;Q2M204;Q86XT4 ABBA01063963;AC073841;AC211485;AC211540;AI208986;AK057366;AK292074;AY081948;AY081949;BC112152;BC112154;BC143787;CH471200;DA045168;DA632418;HY014417;NM_001281450;NM_001281451;NM_178125 AAI12153;AAI12155;AAI43788;AAL91071;AAL91072;BAF84763;EAW69688;EAW69689;EAW69691;NP_001268379;NP_001268380;NP_835226;Q86XT4 Hs.647053 FLJ32804;MGC138357;MGC138359;TRIM50A E3 ubiquitin ligase;E3 ubiquitin-protein ligase TRIM50;OTTHUMP00000210655;OTTHUMP00000210656;tripartite motif protein 50;tripartite motif-containing 50;tripartite motif-containing 50A;tripartite motif-containing protein 50 APPROVED protein-coding ENSG00000146755 HGNC:19017 15566 612548 VALIDATED 6483711 TRIM51HP tripartite motif-containing 51H, pseudogene 11 11 11 q11 52402971 52409173 - 55061179 55065708 - 55293703 55298232 - 16554811 440041 AB231736;AB231737;ABBA01021455;AMYH02024819;AP005597;NR_038174 Hs.558954 pseudo HGNC:43977 VALIDATED 6483756 TRIM51JP tripartite motif-containing 51J, pseudogene 2 2 2 q11.1 90504943 90510812 - 96240639 96246687 + 95574891 95580939 + 643126 ABBA01009504;AC009237;AMYH02004307;NG_028919 pseudo HGNC:43978 INFERRED 1343210 TRIM5 tripartite motif containing 5 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein forms homo-oligomers via the coilel-coil region and localizes to cytoplasmic bodies. It appears to function as a E3 ubiquitin-ligase and ubiqutinates itself to regulate its subcellular localization. It may play a role in retroviral restriction. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2009] 11 11 11 p15 5803483 5825436 - 5676740 5706339 - 5663195 5685109 - 6480464 11331580;12477932;12878161;14702039;14985764;15146197;15249685;15249687;15249690;15280539;15489334;15649369;15709033;15767395;15919943;15967037;15994791;16226405;16254380;16289103;16344560;16401428;16472833;16474118;16474153;16498413;16501094;16624363;16643975;16775307;16808955;16809279;16828831;16887163;16912305;16956947;16973579;17028189;17083721;17087820;17135314;17156811;17207965;17392513;17406861;17504171;17543365;17588933;17609277;17626085;17728224;17855543;17897064;18029348;18063779;18166079;18248090;18248091;18279037;18312418;18367226;18406133;18417575;18497858;18524394;18586294;18613956;18678385;18789977;18799573;18799578;18976462;18976920;18977142;19020830;19056509;19153241;19254360;19388851;19401538;19549727;19577266;19656869;19694548;19710594;19741300;19825046;19902255;19943174;20001730;20012523;20018238;20049904;20053985;20211142;20357094;20360068;20395553;20410272;20493962;20588169;20609213;20619429;20638642;20702630;20721640;20810659;20929586;20956011;20962083;21035162;21083892;21107267;21139048;21169362;21187419;21247355;21264255;21455494;21483490;21490953;21512569;21512573;21568899;21572451;21575157;21575904;21632761;21680743;21734049;21734563;21734566;21741003;21743322;21784078;21866272;21890473;21906983;21917976;21963094;21994560;21994740;22078707;22291694;22421880;22435067;22482711;22493164;22505724;22515365;22553496;22647704;22701176;22855686;22999946;23000965;23043100;23105109;23123544;23320071;23357295;23369348;23379364;23382691;23448277;23480791;23505372;23536686;23548691;23601783;23647667;23725790;23785198;23825473;23883001;24026671;24066097;24086139;24158810;24478420;24600008;24613845;25127057 85363 C9JWN8;E7EQQ5;H7C134;Q9C035 AB362928;ABBA01028655;AC015691;AC109341;AF220025;AF220026;AF220027;AF220028;AF220029;AK027593;AK074363;AMYH02024261;AY625000;BC020770;BC021258;BX647152;CH471064;CN334837;DA475412;DQ288685;DQ301444;DQ301445;DQ301446;DQ301447;DQ301448;DQ301449;DQ301450;DQ301451;DQ301452;DQ301453;DQ301454;DQ301455;DQ301456;DQ301457;DQ301458;DQ301459;DQ301460;DQ301461;DQ301462;DQ301463;DQ301464;DQ301465;DQ301466;DQ301467;DQ301468;DQ301469;DQ301470;DQ301471;DQ301472;DQ301473;DQ301474;DQ301475;DQ301476;DQ301477;DQ301478;DQ301479;DQ301480;EU260465;JF928461;JF928462;NG_029122;NM_033034;NM_033092;NM_033093;XM_005253183;XM_005253184;XM_006718358 AAG53479;AAG53480;AAG53481;AAG53482;AAG53483;AAH20770;AAH21258;AAT48101;ABB90543;ABC00997;ABC00998;ABC00999;ABC01000;ABC01001;ABC01002;ABC01003;ABC01004;ABC01005;ABC01006;ABC01007;ABC01008;ABC01009;ABC01010;ABC01011;ABC01012;ABC01013;ABC01014;ABC01015;ABC01016;ABC01017;ABC01018;ABC01019;ABC01020;ABC01021;ABC01022;ABC01023;ABC01024;ABC01025;ABC01026;ABC01027;ABC01028;ABC01029;ABC01030;ABC01031;ABC01032;ABC01033;ABW96352;ADQ31737;AEN14475;AEN14476;BAB55218;BAG16811;EAW68771;EAW68772;EAW68773;EAW68774;EAW68775;EAW68776;EAW68777;NP_149023;NP_149083;NP_149084;Q9C035;XP_005253240;XP_005253241;XP_006718421 Hs.125300 1681652;1707910;1799916;1801580;1802248;1803192;1805110;1810930;1819914;1822802;1824326;1827230;1830346;1830708;1836526;2055910;2055912;2055914;2055916;2055918;2055920;2055922;2055924;2055926;2055928;2055930;2055932;2055934;2055936;2055938;2055940;2055942;2055944;2055946;2055948;2055950;2055952;2055954;2055956;2055958;2055960;2055962;2055964;2055966;2055968;2055970;2055972;2055974;2055976;2055978;2055980;2055982;2055984;2055986;2055988;2055990;2055992;2055994;2055996;2055998;2056000;2056002;2056004;2056006;2056008;2056010;2056012;2056014;2056016;2056018;2056020;2056022;2056024;2056026;2056028;2056030;2056032;2056034;2056036;2056038;2056040;2056042;2056044;2056046;2056048;2056050;2056052;2056054;2056056;2056058;2056060;2056062;2056064;2056066;2056068;2056070;2056072;2056074;2056076;2056078;2056080;2056082;2056084;2056086;2056088;2056090;2056092;2056094;2106078;2106080;2106082;2106084;2106086;2106088;2106090;2106092;2106094;2106096;2106098;2106100;2106102;2106104;2106106;2118901;2132148;5015619 D11S3114;ECD00812;ECD01668;ECD02008;ECD02488;ECD03497;ECD06463;ECD11028;ECD12489;ECD13261;ECD14730;ECD16307;ECD16490;ECD19427;REN99120;REN99121;REN99122;REN99123;REN99124;REN99125;REN99126;REN99127;REN99128;REN99129;REN99130;REN99131;REN99132;REN99133;REN99134;REN99135;REN99136;REN99137;REN99138;REN99139;REN99140;REN99141;REN99142;REN99143;REN99144;REN99145;REN99146;REN99147;REN99148;REN99149;REN99150;REN99151;REN99152;REN99153;REN99154;REN99155;REN99156;REN99157;REN99158;REN99159;REN99160;REN99161;REN99162;REN99163;REN99164;REN99165;REN99166;REN99167;REN99168;REN99169;REN99170;REN99171;REN99172;REN99173;REN99174;REN99175;REN99176;REN99177;REN99178;REN99179;REN99180;REN99181;REN99182;REN99183;REN99184;REN99185;REN99186;REN99187;REN99188;REN99189;REN99190;REN99191;REN99192;REN99193;REN99194;REN99195;REN99196;REN99197;REN99198;REN99199;REN99200;REN99201;REN99202;REN99203;REN99204;REN99205;REN99206;REN99207;REN99208;REN99209;REN99210;REN99211;REN99212;RH67864;RH80365;SHGC-32233;SHGC-82206;stSG611139;stSG611140;stSG611141;stSG611142;stSG611143;stSG611144;stSG611145;stSG611146;stSG611147;stSG611148;stSG611150;stSG611151;stSG611152;stSG611153;stSG611154 RNF88;TRIM5alpha OTTHUMP00000069811;OTTHUMP00000069812;OTTHUMP00000069813;OTTHUMP00000069814;OTTHUMP00000197100;ring finger protein 88;tripartite motif containing 5 transcript variant iota;tripartite motif containing 5 transcript variant kappa;tripartite motif protein TRIM;tripartite motif protein TRIM5;tripartite motif-containing 5;tripartite motif-containing protein 5 APPROVED protein-coding ENSG00000132256 HGNC:16276 07004 608487 REVIEWED 7248472 TRIM52-AS1 TRIM52 antisense RNA 1 (head to head) 5 5 5 176316063 176319109 + 180688213 180699308 + 181261212 181272307 + 12477932 100507602 ABBA01010097;AC008443;AMYH02012918;BC016291;BM014221;BQ778070;CK905273;HY116666;HY123799;NR_102759;NR_102760;NR_102761;NR_102762 Hs.126768;Hs.725793 ncrna ENSG00000248275 HGNC:49006 VALIDATED 2311723 TRIM53BP tripartite motif containing 53B, pseudogene 11 11 11 q14.3 49158533 49164730 - 89575161 89584432 + 89841993 89851264 + 16554811 642425 ABBA01142863;AP004833;NG_012754 TRIM53B;TRIM53L;TRIM53L1;TRIM80P APPROVED pseudo HGNC:37144 VALIDATED 1344917 TRIM53AP tripartite motif containing 53A, pseudogene 11 11 11 q14.3 1093 8297 + 89726709 89735676 - 89993541 90002508 - 22144910 642569 AMYH02025297;AMYH02025298;AP004607;CA449274;JF968456;JF968457;NR_028346 AFI99094;AFI99095 Hs.647272 5096059 G02221 TRIM53;TRIM53P;TRIM80P APPROVED pseudo ENSG00000225581 HGNC:19025 VALIDATED 3302193 TRIM49D2P tripartite motif containing 49D2, pseudogene ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred) 11 11 11 q14.3 52373102 52382016 + 89657232 89666231 + 89924064 89933063 + 22144910 729384 C9J1S8 ABBA01001941;AMYH02025279;AMYH02025280;AMYH02025281;AMYH02025282;AP004607;CH878633;JF968448;NM_001105522 AFI99091;C9J1S8;EAW50795;NP_001098992 Hs.705301 TRIM48L1;TRIM49D1;TRIM49L;TRIM49L1 tripartite motif containing 49-like 1;tripartite motif protein 49-like;tripartite motif-containing 49-like;tripartite motif-containing 49-like 1;tripartite motif-containing protein 49-like;tripartite motif-containing protein 49-like protein 1;tripartite motif-containing protein 49D1;tripartite motif-containing protein 49D2 pseudogene APPROVED protein-coding ENSG00000233802 HGNC:37217 PROVISIONAL 6483752 TRIM53CP tripartite motif containing 53C, pseudogene 11 11 11 p11.12 49158714 49164730 - 49007305 49013433 - 48985753 48991881 - 340970 ABBA01060670;AC027369;AMYH02024762;NG_021782 1711124;1717733 RH121774;SHGC-86214 pseudo HGNC:43979 INFERRED 1347364 TRIM52 tripartite motif containing 52 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN positive regulation of NF-kappaB transcription factor activity; FOUND IN intracellular (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene; cyclosporin A 5 5 5 q35.3 176311224 176315969 - 180683373 180688161 - 181256372 181261160 - 1580863;6480464 12477932;14702039;15489334;19953087;20596523;21832049;22493164;24158625 84851 L0CQ38;Q96A61 AB209243;ABBA01010097;AC008443;AK026706;AK054802;AMYH02012918;BC007372;CH471165;JX896146;NM_032765;XM_005266000 AAH07372;ABZ92073;AGA17664;BAB70809;BAD92480;EAW53703;EAW53704;EAW53705;NP_116154;Q96A61;XP_005266057 Hs.458412 2175703;5016478;5020948;5022450;5109281 D10S275;D1S1425;G35510;GDB:434012;WI-11859 MGC16175;RNF102 OTTHUMP00000161584;RING finger protein 102;tripartite motif-containing 52;tripartite motif-containing protein 52 APPROVED protein-coding HGNC:19024 10283 PROVISIONAL 1352069 TRIM57 tripartite motif-containing 57 353185 HGNC:19029 1354245 TRIM54 tripartite motif containing 54 The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 27351621 27377411 + 27505297 27530307 + 27282429 27307439 + 6480464;8554872 10737800;10953002;11243782;11927605;12477932;15815621;16344560;17360532;19240029;19690564;21078624;22626734;24722188 57159 Q9BYV2 ABBA01045199;ABBA01045200;ABBA01045201;AC013413;AJ291714;AK300699;AMYH02003474;AMYH02003475;AMYH02003476;BC141807;BF829678;BU633919;CA423735;CH471053;DA897004;NM_032546;NM_187841;XM_005264435;XM_006712053 AAI41808;AAY24296;BAG62380;CAC32841;CAC32842;EAX00606;EAX00607;NP_115935;NP_912730;Q9BYV2;XP_005264492;XP_006712116 Hs.516036 1698956;1798106;2110371;5121538 DNAJC5G_3736;RH103047;RH66632;RNF30_1941 MURF;MURF-3;RNF30;muRF3 OTTHUMP00000122597;OTTHUMP00000122598;muscle-specific RING finger protein 3;muscle-specific RING-finger protein 3;ring finger protein 30;tripartite motif-containing 54;tripartite motif-containing protein 54 APPROVED protein-coding ENSG00000138100 HGNC:16008 05928 606474 REVIEWED 1603290 TRIM55 tripartite motif containing 55 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 8 8 8 q13.1 63030998 63079433 + 67039131 67087720 + 66127043 66175485 + 6480464;8554872 11243782;11927605;12414993;12477932;14702039;15489334;15782160;15802564;15967462;18157088;18187620;18854154;19549727;20379614;22493164;22626734;22666496;22939629 84675 Q9BYV6 ABBA01041870;AC090195;AJ243488;AJ243489;AJ277493;AJ291712;AJ431704;AK091310;AK091728;AMYH02018106;BC007750;BT007212;CH471068;NM_033058;NM_184085;NM_184086;NM_184087;XM_005251316;XM_006716482 AAH07750;AAP35876;BAG52332;BAG52405;CAC32839;CAC32840;CAC43019;CAC43020;CAC81835;CAD24432;EAW86893;EAW86894;EAW86895;NP_149047;NP_908973;NP_908974;NP_908975;Q9BYV6;XP_005251373;XP_006716545 Hs.85524 1690806;1699716;1742349 GDB:196438;RH103463;RH93236 MURF-2;RNF29;muRF2 OTTHUMP00000226783;OTTHUMP00000226784;OTTHUMP00000226785;OTTHUMP00000226786;muscle specific ring finger 2;muscle-specific RING finger protein 2;ring finger protein 29;tripartite motif-containing 55;tripartite motif-containing protein 55 APPROVED protein-coding ENSG00000147573 HGNC:14215 05927 606469 REVIEWED 1349557 TRIM58 tripartite motif containing 58 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; silicon dioxide 1 1 1 q44 221312583 221335224 + 247803007 248043440 + 247857199 247880138 + 6480464;8554872 12477932;14702039;15489334;18187620;20139978;22139419;23222517 25893 Q8NG06 ABBA01031793;ABBA01031794;AC099571;AF327057;AK096188;AMYH02003140;AMYH02003141;BC074748;BX537432;BX644877;DN998591;NM_015431 AAH74748;AAM63958;CAD97674;NP_056246;Q8NG06 Hs.269151 1857428;2106445;2165095;2178980;5015619;5015959;5024761;5037552 BIA2_4445;D10S2448;D11S3114;D8S2279;RH17518;RH36905;RH78729;SHGC-34859 BIA2;DKFZp434C091;DKFZp686N09198 OTTHUMP00000038054;tripartite motif-containing 58;tripartite motif-containing protein 58 APPROVED protein-coding HGNC:24150 09825 VALIDATED 1342742 TRIM56 tripartite motif containing 56 ENCODES a protein that exhibits poly(A) RNA binding; ubiquitin-protein transferase activity (ortholog); INVOLVED IN defense response to virus (ortholog); interferon-beta production (ortholog); protein K63-linked ubiquitination (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH calcitriol; potassium dichromate; testosterone 7 7 7 q22.1 95736929 95742103 + 100728786 100733909 + 101085505 101090628 + 1580863;6480464 12477932;12853948;14702039;15489334;17081983;18854154;19690564;21074459;21139048;21289118;21555518;22505724;22797925;22939624;22939629;22948160;23000965;24457600;24816145 81844 C9JI91;Q9BRZ2 ABBA01011351;AC105446;AK075255;AL512757;AMYH02016399;BC005847;BC011882;BC048194;CH471197;NM_030961 AAH05847;AAH11882;AAH48194;ABZ92066;BAC11500;CAC21676;EAW50193;NP_112223;Q9BRZ2 Hs.521092 1789518;2218626 D7S3179;TRIM56__3686 DKFZp667O116;FLJ35608;RNF109 E3 ubiquitin-protein ligase TRIM56;OTTHUMP00000211343;RING finger protein 109;tripartite motif-containing 56;tripartite motif-containing protein 56 APPROVED protein-coding ENSG00000169871 HGNC:19028 10284 PROVISIONAL 1349912 TRIM59 tripartite motif containing 59 ENCODES a protein that exhibits ubiquitin-protein transferase activity (inferred); zinc ion binding (inferred); INVOLVED IN negative regulation of I-kappaB kinase/NF-kappaB signaling; FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); intracellular (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 3,4-dichloroaniline; all-trans-retinoic acid 3 3 3 q25.33 158574658 158589643 - 160153291 160167626 - 160435503 160449838 - 1580863;6480464 12095697;12477932;15489334;15941852;21139048;21906983;22588174;24250222;25046164 286827 C9IY67;C9IZE0;C9J614;C9J9F0;C9JE08;C9JNB9;F5GZP3;Q8IWR1 ABBA01058796;AC024221;AI215011;AK291284;AMYH02008018;AMYH02008019;AY159379;BC109259;BC109260;BX537987;CH471052;NM_173084 AAI09260;AAI09261;AAN86853;BAF83973;CAD97947;EAW78635;EAW78636;EAW78637;EAW78638;NP_775107;Q8IWR1 Hs.212957 1669397;1775108;2160897;2165861;5014051;5016478;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;GDB:434012;L18426;SHGC-77500;STS-N90779;STS-W93650;WI-18249 MGC129860;MGC129861;MGC26631;MRF1;RNF104;TRIM57;TSBF1 OTTHUMP00000213882;OTTHUMP00000213883;OTTHUMP00000213884;OTTHUMP00000213886;OTTHUMP00000213887;RING finger 1-like;RING finger protein 104;tripartite motif-containing 57;tripartite motif-containing 59;tripartite motif-containing protein 59;tumor suppressor TSBF-1;tumor suppressor TSBF1 APPROVED protein-coding ENSG00000213186 HGNC:30834 15568 VALIDATED 4108683 TRIM60P11Y tripartite motif containing 60 pseudogene 11, Y-linked Y Y 26837929 26839076 + 24691782 24692929 + 100420377 AC025735;NG_004755 TRIM60P11;TRIM60PY11 APPROVED pseudo HGNC:38463 VALIDATED 4108684 TRIM60P10Y tripartite motif containing 60 pseudogene 10, Y-linked Y Y 26805484 26806550 + 24659337 24660403 + 100420376 AC025735;NG_004755 TRIM60P10;TRIM60PY10 APPROVED pseudo HGNC:38462 VALIDATED 1350779 TRIM60 tripartite motif containing 60 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Pseudogenes of this gene are located on more than six chromosomes including chromosome 4. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013] 4 4 4 q32.3 163284633 163294264 + 165953151 165962896 + 165031999 165041744 + 6480464;8554872 12477932;14702039;15489334;19240061;8744354 166655 D6RAS2;Q495X7 ABBA01070290;AC106872;AK093201;AMYH02010436;BC100983;BC100984;BC100985;BC100986;CH471056;NM_001258025;NM_152620 AAI00984;AAI00985;AAI00986;AAI00987;BAC04093;EAX04827;NP_001244954;NP_689833;Q495X7 Hs.368004 2217914 RNF129_3727 FLJ35882;MGC119325;RNF129;RNF33 OTTHUMP00000219952;OTTHUMP00000219953;OTTHUMP00000219954;ring finger protein 129;ring finger protein 33;tripartite motif-containing 60;tripartite motif-containing protein 60 APPROVED protein-coding ENSG00000176979 HGNC:21162 11502 REVIEWED 4108681 TRIM60P12Y tripartite motif containing 60 pseudogene 12, Y-linked Y Y 27320658 27321533 + 25174511 25175386 + 100420378 AC006386;NG_004755 TRIM60P12;TRIM60PY12 APPROVED pseudo HGNC:38465 VALIDATED 3436166 TRIM60P13 tripartite motif containing 60 pseudogene 13 13 13 13 q31.2 70742738 70744549 - 89901114 89902925 - 89248860 89250671 - 100132195 ABBA01027258;AL354997;AMYH02028443;NG_022984 1704652;2188809 G66504;SHGC-77956 APPROVED pseudo HGNC:38485 INFERRED 3160458 TRIM60P15 tripartite motif containing 60 pseudogene 15 8 8 8 43687960 43689034 + 47703667 47704741 + 46792045 46793119 + 100420405 ABBA01018439;AC021451;AMYH02017931;NG_022417 APPROVED pseudo HGNC:38487 INFERRED 3160456 TRIM60P16 tripartite motif containing 60 pseudogene 16 7 7 7 67805839 67806830 - 56699429 56700420 - 56631736 56632727 - 100420412 ABBA01061873;AC095038;AMYH02015762;NG_022536 APPROVED pseudo HGNC:38488 INFERRED 5133102 TRIM60P19 tripartite motif containing 60 pseudogene 19 13 13 66843179 66844544 + 66269047 66270412 + 100533672 ABBA01050278;AL136145;NG_028899 pseudo HGNC:42010 INFERRED 3160457 TRIM60P17 tripartite motif containing 60 pseudogene 17 7 7 7 57264788 57265805 + 63545938 63546954 + 64085560 64086576 + 100420414 ABBA01027969;AC115220;AMYH02015848;NG_022562 APPROVED pseudo HGNC:38489 INFERRED 2947040 TRIM60P14 tripartite motif containing 60 pseudogene 14 4 4 4 q32.3 163168748 163170162 + 165836718 165838132 + 164915566 164916980 + 653794 ABBA01070287;AC106872;AMYH02010432;NG_022090 1779678;2147911;2152895;2176834 D4S2406;D4S2636;SHGC-153656;SHGC-33149 APPROVED pseudo HGNC:38486 INFERRED 1604884 TRIM6-TRIM34 TRIM6-TRIM34 readthrough The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene represents a readthrough transcript from genes TRIM6 and TRIM34, and it was described as a splice variant of TRIM34. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. [provided by RefSeq, Nov 2009] 11 11 11 p15 5736703 5784582 + 5617865 5665628 + 5596635 5644398 + 6480464 11013086;12477932;16344560;16775307;20967262;23382691 445372 B2RNG4 AB039903;ABBA01028653;ABBA01028654;ABBA01028655;AC015691;AMYH02024260;AMYH02024261;AW516211;BC136871;BC140722;BC144424;BG721109;CX760618;NM_001003819 AAI36872;AAI40723;BAB17050;NP_001003819 Hs.729048 1799750;1804070;1804284;1804342;1804398;1805860;1807762;1808382;1810630;1811796;1813018;1813234;1813734;1814920;1816042;1819910;1819912;1821058;1821648;1823754;1823756;1823810;1824804;1825442;1825518;1825604;1826078;1826968;1827226;1827228;1827896;1828320;1828530;1828782;1828784;1828986;1829056;1829628;1830000;1831744;1832026;1832214;1835700;1835856;1837146;1837702;1840068;1840448;1840720;1843358;1845656;2054546;2054548;2054550;2054552;2054554;2054556;2054558;2054560;2054562;2055358;2055360;2055362;2055364;2055366;2055368;2055370;2055372;2055374;2055376;2055378;2055380;2055382;2055384;2055386;2055388;2055390;2055392;2055394;2055396;2055398;2055400;2055402;2055404;2055406;2055408;2055410;2055412;2055414;2055416;2055418;2055420;2055422;2055424;2055426;2055428;2055430;2055432;2055434;2055436;2055438;2055440;2055442;2055444;2055446;2055448;2055450;2055452;2055454;2055456;2055458;2055460;2055462;2055464;2055466;2055468;2055470;2055472;2055474;2055476;2055478;2055480;2055482;2055484;2055486;2055488;2055490;2055492;2055494;2055496;2055498;2055500;2055502;2055504;2055506;2055508;2055510;2055512;2055514;2055516;2055518;2055520;2055522;2055524;2055526;2055528;2055530;2055532;2055534;2055536;2055538;2055540;2055542;2055544;2055546;2055548;2055550;2055552;2055554;2055556;2055558;2055560;2055562;2055564;2055566;2055568;2055570;2055572;2055574;2055576;2055578;2055580;2055582;2055584;2055586;2055588;2055590;2055592;2055594;2055596;2055598;2055600;2055602;2055604;2055606;2055608;2055610;2055612;2055614;2055616;2055618;2055620;2055622;2055624;2055626;2055628;2055630;2055632;2055634;2055636;2055638;2055640;2055642;2055644;2055646;2055648;2055650;2055652;2055654;2055656;2055658;2055660;2055662;2055664;2055666;2055668;2055670;2055672;2055674;2055676;2055678;2055680;2055682;2055684;2055686;2055688;2055690;2055692;2055694;2055696;2055698;2055700;2055702;2055704;2055706;2055708;2055710;2055712;2055714;2055716;2055718;2055720;2055722;2055724;2055726;2055728;2055730;2055732;2055734;2055736;2055738;2055740;2055742;2055744;2055746;2055748;2055750;2055752;2055754;2055756;2055758;2055760;2055762;2105838;2105840;2105982;2105984;2105986;2105988;2105990;2105992;2105994;2105996;2105998;2106000;2106002;2106006;2106008;2106010;2106012;2106014;2106016;2106018;2106020;2106022;2106024;2106026;2106028;2106030;2106032;2106034;2106036;2106038;2106040;2106042;2106044;2106046;2106048;2106050;2106052;2106054;2106056;2106058;2108597;2108601;2142906;5093998 A010A18;ECD00729;ECD02952;ECD03066;ECD03095;ECD03123;ECD03883;ECD04854;ECD05172;ECD06309;ECD06902;ECD07528;ECD07637;ECD07890;ECD08491;ECD09061;ECD11026;ECD11027;ECD11606;ECD11910;ECD12969;ECD12970;ECD12997;ECD13501;ECD13828;ECD13867;ECD13910;ECD14148;ECD14599;ECD14728;ECD14729;ECD15071;ECD15285;ECD15392;ECD15518;ECD15519;ECD15620;ECD15655;ECD15946;ECD16133;ECD17009;ECD17151;ECD17245;ECD19007;ECD19089;ECD19739;ECD20019;ECD21218;ECD21410;ECD21551;ECD22887;ECD24046;G33046;REN98435;REN98436;REN98437;REN98438;REN98439;REN98440;REN98441;REN98442;REN98443;REN98843;REN98844;REN98845;REN98846;REN98847;REN98848;REN98849;REN98850;REN98851;REN98852;REN98853;REN98854;REN98855;REN98856;REN98857;REN98858;REN98859;REN98860;REN98861;REN98862;REN98863;REN98864;REN98865;REN98866;REN98867;REN98868;REN98869;REN98870;REN98871;REN98872;REN98873;REN98874;REN98875;REN98876;REN98877;REN98878;REN98879;REN98880;REN98881;REN98882;REN98883;REN98884;REN98885;REN98886;REN98887;REN98888;REN98889;REN98890;REN98891;REN98892;REN98893;REN98894;REN98895;REN98896;REN98897;REN98898;REN98899;REN98900;REN98901;REN98902;REN98903;REN98904;REN98905;REN98906;REN98907;REN98908;REN98909;REN98910;REN98911;REN98912;REN98913;REN98914;REN98915;REN98916;REN98917;REN98918;REN98919;REN98920;REN98921;REN98922;REN98923;REN98924;REN98925;REN98926;REN98927;REN98928;REN98929;REN98930;REN98931;REN98932;REN98933;REN98934;REN98935;REN98936;REN98937;REN98938;REN98939;REN98940;REN98941;REN98942;REN98943;REN98944;REN98945;REN98946;REN98947;REN98948;REN98949;REN98950;REN98951;REN98952;REN98953;REN98954;REN98955;REN98956;REN98957;REN98958;REN98959;REN98960;REN98961;REN98962;REN98963;REN98964;REN98965;REN98966;REN98967;REN98968;REN98969;REN98970;REN98971;REN98972;REN98973;REN98974;REN98975;REN98976;REN98977;REN98978;REN98979;REN98980;REN98981;REN98982;REN98983;REN98984;REN98985;REN98986;REN98987;REN98988;REN98989;REN98990;REN98991;REN98992;REN98993;REN98994;REN98995;REN98996;REN98997;REN98998;REN98999;REN99000;REN99001;REN99002;REN99003;REN99004;REN99005;REN99006;REN99007;REN99008;REN99009;REN99010;REN99011;REN99012;REN99013;REN99014;REN99015;REN99016;REN99017;REN99018;REN99019;REN99020;REN99021;REN99022;REN99023;REN99024;REN99025;REN99026;REN99027;REN99028;REN99029;REN99030;REN99031;REN99032;REN99033;REN99034;REN99035;REN99036;REN99037;REN99038;REN99039;REN99040;REN99041;REN99042;REN99043;REN99044;REN99045;TRIM34_8052;TRIM6_8130;stSG611014;stSG611015;stSG611089;stSG611091;stSG611092;stSG611093;stSG611094;stSG611095;stSG611096;stSG611097;stSG611098;stSG611099;stSG611100;stSG611103;stSG611104;stSG611105;stSG611106;stSG611107;stSG611108;stSG611109;stSG611110;stSG611111;stSG611112;stSG611113;stSG611114;stSG611115;stSG611116;stSG611117;stSG611118;stSG611119;stSG611120;stSG611121;stSG611122;stSG611123;stSG611124;stSG611125;stSG611126;stSG611127;stSG611128;stSG611129 IFP1;RNF21;TRIM34 OTTHUMP00000069817;interferon-responsive finger protein 1;interferon-responsive finger protein 1 long form;tripartite motif-containing 6 and tripartite motif-containing 34 APPROVED protein-coding ENSG00000258588 HGNC:33440 18660 VALIDATED 3184140 TRIM60P2Y tripartite motif containing 60 pseudogene 2, Y-linked Y Y Y 1446359 1448140 + 7773577 7775358 - 7905536 7907317 - 100420363 ABBA01060176;AC010678;NG_021908 TRIM60P2;TRIM60PY2 APPROVED pseudo HGNC:38405 INFERRED 3184139 TRIM60P1Y tripartite motif containing 60 pseudogene 1, Y-linked Y Y Y 1507207 1508187 + 7713524 7714504 - 7845483 7846463 - 100420362 ABBA01060168;AC007275;NG_021907 TRIM60P1;TRIM60PY1 APPROVED pseudo HGNC:38403 INFERRED 3184138 TRIM60P3Y tripartite motif containing 60 pseudogene 3, Y-linked Y Y Y 939646 940654 + 8281087 8282095 - 8413046 8414054 - 100420364 ABBA01060232;ABBA01060233;AC025731;NG_021909 TRIM60P3;TRIM60PY3 APPROVED pseudo HGNC:38409 INFERRED 3184137 TRIM60P4Y tripartite motif containing 60 pseudogene 4, Y-linked Y Y Y 10812713 10813577 - 25007127 25007991 - 22860980 22861844 - 100420367 AC016911;NG_021923 TRIM60P4;TRIM60PY4 APPROVED pseudo HGNC:38425 INFERRED 3184123 TRIM60P5Y tripartite motif containing 60 pseudogene 5, Y-linked Y Y Y 10812713 10813577 - 26640875 26641739 - 24494728 24495592 - 100420368 AC016698;NG_021927 TRIM60P5;TRIM60PY5 APPROVED pseudo HGNC:38430 INFERRED 3184141 TRIM60P6Y tripartite motif containing 60 pseudogene 6, Y-linked Y Y Y 11009753 11010900 + 27123326 27124473 - 24977179 24978326 - 100420369 ABBA01017884;AC006338;NG_021928 TRIM60P6;TRIM60PY6 APPROVED pseudo HGNC:38432 INFERRED 3184099 TRIM60P7Y tripartite motif containing 60 pseudogene 7, Y-linked Y Y Y 10977310 10978376 + 27155850 27156916 - 25009703 25010769 - 100420370 ABBA01017884;AC006338;NG_021929 TRIM60P7;TRIM60PY7 APPROVED pseudo HGNC:38433 INFERRED 4108682 TRIM60P8Y tripartite motif containing 60 pseudogene 8, Y-linked Y Y 25171741 25172807 + 23025594 23026660 + 100420373 AC006366;NG_004755 TRIM60P8;TRIM60PY8 APPROVED pseudo HGNC:38458 VALIDATED 3160455 TRIM60P18 tripartite motif containing 60 pseudogene 18 7 7 7 57535055 57536236 + 63815396 63816577 + 64355018 64356199 + 100420415 ABBA01027976;AC073270;AMYH02015848;NG_022564 1698928 RH103033 APPROVED pseudo HGNC:38490 INFERRED 4108685 TRIM60P9Y tripartite motif containing 60 pseudogene 9, Y-linked Y Y 25204183 25205330 + 23058036 23059183 + 100420374 AC010088;NG_004755 TRIM60P9;TRIM60PY9 APPROVED pseudo HGNC:38459 VALIDATED 1354030 TRIM61 tripartite motif containing 61 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH amiodarone; hydralazine; methyl methanesulfonate 4 4 4 q32.3 163207628 163230821 - 165875598 165898818 - 164954446 164977666 - 6480464;8554872 12477932;15146197;15489334;15994318;23251661 391712 Q5EBN2 ABBA01070287;AC106872;AK296100;AMYH02010434;BC089393;CN311322;NM_001012414;XM_006714214;XM_006714215;XM_006714216 AAH89393;BAG58853;NP_001012414;Q5EBN2;XP_006714277;XP_006714278;XP_006714279 Hs.654633 5019172 RH103332 FLJ60274;MGC102996;RNF35 OTTHUMP00000219955;putative tripartite motif-containing protein 61;ring finger protein 35;tripartite motif-containing 61 APPROVED protein-coding ENSG00000183439 HGNC:24339 18225 VALIDATED 1316640 TRIM6 tripartite motif containing 6 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010] 11 11 11 p15.4 5735961 5753014 + 5617331 5634188 + 5596101 5612958 + 1580863;6480464;8554872 11013086;11331580;12477932;14702039;15489334;16344560;16498413;16775307;16828831;17156811;18159944;21680743;22328504;23382691;24882218 117854 C9JNQ0;E9PFM0;Q9C030 ABBA01028652;ABBA01028653;AC015691;AF220030;AK023210;AK027664;AK290172;AK293295;AK298301;AK316178;AK316289;AMYH02024259;AMYH02024260;BC047564;BC065575;BG776117;CH471064;CR749260;DA401634;DB233046;DC354457;NM_001003818;NM_001198644;NM_001198645;NM_058166 AAG53484;AAH47564;AAH65575;BAB55276;BAF82861;BAG56816;BAG60556;BAH14549;BAH14660;CAH18116;EAW68782;EAW68783;EAW68785;NP_001003818;NP_001185573;NP_001185574;NP_477514;Q9C030 Hs.729048 1804070;1804284;1805860;1810630;1811796;1813018;1813234;1816042;1823332;1823754;1823810;1825518;1827226;1827228;1827896;1828782;1828986;1830000;1837146;1843358;2055352;2055354;2055356;2055358;2055360;2055362;2055364;2055366;2055368;2055370;2055372;2055374;2055376;2055378;2055380;2055382;2055384;2055386;2055388;2055390;2055392;2055394;2055396;2055398;2055400;2055402;2055404;2055406;2055408;2055410;2055412;2055414;2055416;2055418;2055420;2055422;2055424;2055426;2055428;2055430;2055432;2055434;2055436;2055438;2055440;2055442;2055444;2055446;2055448;2055450;2055452;2055454;2055456;2055458;2055460;2055462;2055464;2055466;2055468;2055470;2055472;2055474;2055476;2055478;2055480;2055482;2055484;2055486;2055488;2055490;2055492;2055494;2055496;2055498;2055500;2055502;2105982;2105984;2105986;2105988;2105990;2105992;2105994;2105996;2105998;2106000;2106002;2106004;2108601;2142906;5093998 A010A18;ECD02952;ECD03066;ECD03883;ECD06309;ECD06902;ECD07528;ECD07637;ECD09061;ECD12755;ECD12969;ECD12997;ECD13867;ECD14728;ECD14729;ECD15071;ECD15518;ECD15620;ECD16133;ECD19739;ECD22887;G33046;REN98840;REN98841;REN98842;REN98843;REN98844;REN98845;REN98846;REN98847;REN98848;REN98849;REN98850;REN98851;REN98852;REN98853;REN98854;REN98855;REN98856;REN98857;REN98858;REN98859;REN98860;REN98861;REN98862;REN98863;REN98864;REN98865;REN98866;REN98867;REN98868;REN98869;REN98870;REN98871;REN98872;REN98873;REN98874;REN98875;REN98876;REN98877;REN98878;REN98879;REN98880;REN98881;REN98882;REN98883;REN98884;REN98885;REN98886;REN98887;REN98888;REN98889;REN98890;REN98891;REN98892;REN98893;REN98894;REN98895;REN98896;REN98897;REN98898;REN98899;REN98900;REN98901;REN98902;REN98903;REN98904;REN98905;REN98906;REN98907;REN98908;REN98909;REN98910;REN98911;REN98912;REN98913;REN98914;REN98915;TRIM6_8130;stSG611089;stSG611091;stSG611092;stSG611093;stSG611094;stSG611095;stSG611096;stSG611097;stSG611098;stSG611099;stSG611100;stSG611101 RNF89 OTTHUMP00000069818;OTTHUMP00000069819;OTTHUMP00000069820;OTTHUMP00000197092;OTTHUMP00000220648;OTTHUMP00000220649;OTTHUMP00000220650;RING finger protein 89;tripartite motif-containing 6;tripartite motif-containing protein 6 APPROVED protein-coding ENSG00000121236 HGNC:16277 12123 607564 REVIEWED 1346151 TRIM62 tripartite motif containing 62 ENCODES a protein that exhibits ligase activity (inferred); zinc ion binding (inferred); INVOLVED IN innate immune response; negative regulation of viral transcription; positive regulation of I-kappaB kinase/NF-kappaB signaling; FOUND IN cytoplasm (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dibutyl phthalate (ortholog) 1 1 1 p35.1 31881193 31917797 - 33611000 33647671 - 33145399 33182070 - 737633;1580863;6480464 12477932 14702039;15231748;15489334;16344560;16710414;18248090;19536324;19536326;20379614;21906983;21963094;23402750;23838884;24250222;8889548 55223 Q9BVG3 ABBA01023384;ABBA01023385;ABBA01023386;AK001621;AK122896;AK300177;AL662907;AMYH02000727;AX775831;BC001222;BC007999;BC011689;BC012152;BM722392;CH471059;CX872720;DA338982;NM_018207;XM_006710736;XM_006710737 AAH01222;AAH07999;AAH11689;AAH12152;BAA91792;BAG53787;BAG61956;CAE11615;EAX07465;EAX07466;EAX07467;NP_060677;Q9BVG3;XP_006710799;XP_006710800 Hs.656006 1644595;1848389 D1S3575;SHGC-74539 DEAR1;FLJ10759;FLJ16558 E3 ubiquitin-protein ligase TRIM62;OTTHUMP00000004289;OTTHUMP00000004290;OTTHUMP00000004291;ductal epithelium-associated RING Chromosome 1;tripartite motif-containing 62;tripartite motif-containing protein 62 APPROVED protein-coding ENSG00000116525 HGNC:25574 07697 VALIDATED 1345707 TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012] 1 1 1 p34-p33 24774477 24790800 - 26377792 26394142 - 26051304 26067634 - 633893;6480464 11679633 11243782;11283016;11927605;12107412;12414993;12477932;14702039;15489334;15601779;15802564;15967462;16338389;16344560;16710414;17215480;17478621;17901116;17971512;17977773;18157088;18222470;18468620;18612045;18795805;19240029;19533653;19690564;19850579;19859778;20149877;21304964;21396940;21448668;21686210;21764995;21832049;22127230;22350919;22445192;22626734;22721718;22815045;22821932;23432902;23490068;23816995;23844868;24671946;24850911;24920680 84676 Q6NR77;Q969Q1 ABBA01034895;AF353673;AF361946;AI351421;AJ276484;AK056942;AK297820;AL391650;AMYH02000551;BC080529;BT007373;CH471059;DA900348;NG_033268;NM_032588 AAH80529;AAK39519;AAK52497;AAP36037;BAB71318;BAG60157;CAC81706;EAX07848;NP_115977;Q969Q1 Hs.279709 2160266;2218594 RNF28_2333;SHGC-74422 FLJ32380;IRF;MURF1;MURF2;RNF28;SMRZ E3 ubiquitin-protein ligase TRIM63;OTTHUMP00000008701;iris ring finger protein;muscle specific ring finger protein 2;muscle-specific RING finger protein 1;ring finger protein 28;striated muscle RING zinc finger protein;tripartite motif-containing 63;tripartite motif-containing protein 63 APPROVED protein-coding ENSG00000158022 HGNC:16007 05843 606131 REVIEWED 6483758 TRIM64DP tripartite motif containing 64D, pseudogene 11 11 11 q14.3 85115863 85121259 - 89510149 89515728 + 89776981 89782560 + 727828 ABBA01113216;AMYH02025270;AP003122;NG_028916 pseudo HGNC:43974 INFERRED 1349864 TRIM64 tripartite motif containing 64 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred) 11 11 11 q14.3 86951536 86956174 + 89701672 89707240 + 89968504 89974072 + 16554811;22144910 120146 A6NGJ6 AP004607;NM_001136486 A6NGJ6;NP_001129958 Hs.454490 5113091;5113389 RH75742;RH93993 C11orf28;TRIM64A tripartite motif-containing 64;tripartite motif-containing protein 64 APPROVED protein-coding HGNC:14663 INFERRED 6483754 TRIM64EP tripartite motif containing 64E, pseudogene 11 11 11 q14.3 85115827 85121259 - 89790587 89796165 - 90057419 90062997 - 440061 AMYH02025304;AMYH02025305;AMYH02025306;AP004607;NG_028917 pseudo HGNC:43975 INFERRED 6483753 TRIM64FP tripartite motif containing 64F, pseudogene 2 2 2 q11.1 90565606 90570891 - 96180575 96185860 + 95514827 95520112 + 390233 ABBA01009504;AC009237;AMYH02004307;NG_028781 pseudo HGNC:43976 INFERRED 2311722 TRIM64B tripartite motif containing 64B ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred); INTERACTS WITH clofibrate (ortholog) 11 11 11 q14.3 86952379 86956174 + 89603606 89609185 - 89870438 89876017 - 6480464 16554811;22144910 642446 A6NI03 ABBA01225523;AMYH02025279;AP005435;JF968449;NM_001164397 A6NI03;AFI99092;NP_001157869 Hs.730588 5113091;5113389 RH75742;RH93993 OTTHUMP00000236387;putative tripartite motif-containing protein 64B;tripartite motif-containing 64B;tripartite motif-containing protein 64B-like APPROVED protein-coding HGNC:37147 PROVISIONAL 2311727 TRIM64C tripartite motif containing 64C ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred); INTERACTS WITH clofibrate (ortholog) 11 11 11 p11.12 49226614 49232013 - 49075266 49080664 - 49053714 49059112 - 6480464 16554811;22797925 646754 A6NLI5;E9PII4 ABBA01060669;AC084851;AMYH02024762;NM_001206631 A6NLI5;NP_001193560 Hs.740240 OTTHUMP00000234157;Putative tripartite motif-containing protein 64C;tripartite motif-containing 64C;tripartite motif-containing protein 64C-like APPROVED protein-coding ENSG00000214891 HGNC:37148 PROVISIONAL 1352380 TRIM65 tripartite motif containing 65 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dibutyl phthalate (ortholog); lead diacetate (ortholog) 17 17 17 q25.1 70475091 70483104 - 73885041 73893084 - 75888960 75897003 - 737633;6480464;8554872 12477932 15489334;19322201;19690564;21681796;21890473;21900206;21906983;21963094;22493164;22505724;23602568;24778252 201292 H0YG27;H0YGS7;K7EJ59;K7EM44;Q6PJ69 ABBA01028767;AC087289;AI242308;AMYH02034001;BC006138;BC013181;BC021259;BC073831;BC098412;BG701649;BG753016;BQ070146;CA417316;CH471099;DR002345;NM_001256124;NM_173547;XM_006721760;XM_006721761 AAH06138;AAH13181;AAH21259;AAH73831;AAH98412;EAW89333;EAW89334;EAW89335;EAW89336;NP_001243053;NP_775818;Q6PJ69;XP_006721823;XP_006721824 Hs.189823 1652955;1689799;1736634;1783574;1787860;2121563;5015619;5015961;5037552;5107145 D11S3114;D15S1477;D17S1475E;D8S2279;G65616;RH78964;RH79813;SHGC-132666;SHGC-155088;SHGC-37061 4732463G12Rik OTTHUMP00000163003;OTTHUMP00000236784;OTTHUMP00000236785;tripartite motif-containing 65;tripartite motif-containing protein 65 APPROVED protein-coding ENSG00000141569 HGNC:27316 15569 VALIDATED 1352641 TRIM67 tripartite motif containing 67 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN negative regulation of Ras protein signal transduction (inferred); positive regulation of neuron projection development (inferred); positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (inferred); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); intracellular (inferred); INTERACTS WITH arsenite(3-); clofibrate (ortholog); paracetamol (ortholog) 1 1 1 q42.2 204563541 204622189 + 231298674 231357314 + 231162928 231221568 + 1580863;6480464 14702039;16434393;16710414;23251661 440730 F8W8C1;Q6ZTA4 ABBA01033033;ABBA01033034;AK055338;AK126782;AL109810;AL137801;AMYH02002888;AMYH02002889;AY253917;CH471098;CR627464;KF455157;KF455158;NM_001004342;NM_001300889;XM_005273137;XM_005273138 AAI56317;AAI57056;AAP69949;BAC86689;EAW69946;NP_001004342;NP_001287818;Q6ZTA4;XP_005273194;XP_005273195 Hs.655089 1719247;1730397;1855586;2179709 D14S96E;HSC2BE102;RH123344;RH27924 FLJ44831;TNL OTTHUMP00000036069;OTTHUMP00000036070;OTTHUMP00000036134;TRIM9-like protein TNL;tripartite motif-containing 67;tripartite motif-containing protein 67 APPROVED protein-coding ENSG00000119283 HGNC:31859 15570 610584 VALIDATED 1344713 TRIM68 tripartite motif containing 68 This gene encodes a protein which contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is expressed in many cancer cell lines. Its expression in normal tissues, however, was found to be restricted to prostate. This gene was also found to be differentially expressed in androgen-dependent versus androgen-independent prostate cancer cells. [provided by RefSeq, Oct 2011] 11 11 11 p15.4 4744108 4753643 - 4619902 4629489 - 4598672 4608259 - 6480464;8554872 11076863;11230166;11256614;11560955;11597395;12477932;14702039;15489334;15489336;15601779;16381901;18029348;18451177;19690564;19795399;21139048;21890473;21906983;24999993 55128 E9PJJ9;E9PP83;E9PR29;Q6AZZ1 ABBA01028641;AC090719;AF360739;AF439153;AK001231;AK022923;AK056523;AK291166;AK301120;AK310888;AL832730;AMYH02024244;AY005802;BC075058;BC109063;CH471064;CS300677;DC402744;NM_018073 AAF91075;AAH75058;AAI09064;AAL11501;AAL31641;ABZ92344;BAA91569;BAB14309;BAF83855;BAG51737;BAG62716;CAK32341;CAL37628;EAW68834;EAW68835;NP_060543;Q6AZZ1 Hs.523438;Hs.738828 1796698;2165227;2165631;5014051;5022651;5037552 D11S2921;D11S4523;D8S2278;D8S2279;RNF137_1330;STS-N39251 FLJ10369;GC109;MGC126176;RNF137;SS-56;SS56 E3 ubiquitin-protein ligase TRIM68;OTTHUMP00000230828;OTTHUMP00000230830;Ro/SSA1 related protein;SSA protein SS-56;ring finger protein 137;tripartite motif-containing 68;tripartite motif-containing protein 68 APPROVED protein-coding ENSG00000167333 HGNC:21161 11507 613184 REVIEWED 1344439 TRIM66 tripartite motif containing 66 ENCODES a protein that exhibits chromatin binding (inferred); protein homodimerization activity (inferred); zinc ion binding (inferred); INVOLVED IN negative regulation of transcription, DNA-templated (inferred); FOUND IN aggresome; nucleus; INTERACTS WITH leflunomide (ortholog) 11 11 11 p15.4 8751219 8798014 - 8633584 8704205 - 8612037 8679939 - 1580863;6480464 11528127;12477932;14702039;15322135;16751776;18029348;18854154;21102462;23563607;9205841 9866 B5MCJ9;H0YF52;O15016 AB002296;ABBA01061210;ABBA01061211;AC091053;AC104360;AJ400879;AK000908;AK307240;AK308310;AMYH02024291;AMYH02024292;BC031354;BC068088;NM_014818;XM_006718397;XM_006718398 BAA20758;CAC35389;NP_055633;O15016;XP_006718460;XP_006718461 Hs.130836;Hs.716965 1660894;1729123;1740051;2181840;2181908;2182747;2182749;5014740;5015961;5016596;5022651 A005K17;AU049776;D11S2921;D11S4070;D11S4639;D15S1477;D17S610;G20283;GDB:631802;RH78320;WI-18522 C11orf29;FLJ10046;TIF1D;TIF1DELTA OTTHUMP00000197472;transcriptional intermediary factor 1 delta;tripartite motif-containing 66;tripartite motif-containing protein 66 APPROVED protein-coding ENSG00000166436 HGNC:29005 612000 VALIDATED 1312888 TRIM69 tripartite motif containing 69 This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 15 15 15 q21.1 21918324 21949771 + 45028314 45060027 + 44729073 44767829 + 6480464;8554872 11181995;11331580;11578878;12477932;12837286;15231748;15489334;16189514;20360068;20379614;20677014;21832049;21911421;23131556;23824909 140691 H0YKB8;H0YL66;Q86WT6 ABBA01039193;ABBA01039194;ABBA01039195;AC018901;AC122108;AF302088;AF302089;AK226115;AK292252;AL360161;AMYH02030345;AY305385;BC024199;BC033314;BC047945;BI465168;BI827618;BI829233;BM559467;CH471082;DB524904;NG_033935;NM_001301144;NM_001301145;NM_001301146;NM_080745;NM_182985;XM_005254162;XM_005254163;XM_006720392;XM_006720393;XM_006725177;XM_006725178;XM_006725179;XM_006725180;XM_006725181 AAH24199;AAH33314;AAH47945;AAL55810;AAL55811;AAQ75551;ABZ92102;ACE86772;ACE87458;BAF84941;EAW77279;EAW77280;EAW77281;EAW77282;NP_001288073;NP_001288074;NP_001288075;NP_542783;NP_892030;Q86WT6;XP_005254219;XP_005254220;XP_006720455;XP_006720456;XP_006725240;XP_006725241;XP_006725242;XP_006725243;XP_006725244 Hs.745248 1689959;2160175 RH15707;RH94033 HSD-34;HSD34;RNF36;Trif E3 ubiquitin-protein ligase TRIM69;OTTHUMP00000161911;RFP-like domain-containing protein trimless;ring finger protein 36;trimless;tripartite motif protein 69;tripartite motif-containing 69;tripartite motif-containing protein 69 APPROVED protein-coding ENSG00000185880 HGNC:17857 11518 616017 REVIEWED 1603795 TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase ENCODES a protein that exhibits phosphatidylserine binding (ortholog); INVOLVED IN muscle organ development (ortholog); muscle system process (ortholog); plasma membrane repair (ortholog); FOUND IN cytoplasmic vesicle membrane (ortholog); sarcolemma (ortholog); INTERACTS WITH 3-methylcholanthrene; arsenite(3-); MeIQx 16 16 16 p11.2 29061514 29072686 - 31225342 31236510 + 31214021 31225189 + 6480464 12477932;14702039;15489334;15616553;16344560;19129174;19549727;19967786;20399744;21343302;21412170;22253476;23354051;23699904;23965929;24344130 493829 Q6ZMU5 ABBA01042085;AC009088;AK090695;AK131485;AMYH02031843;BC033211;CH471192;DA058421;DA821604;NM_001008274 AAH33211;BAC03506;BAD18630;EAW52145;EAW52146;NP_001008275;Q6ZMU5 Hs.661859 1700724;5020948 G35510;RH103987 MG53 mitsugumin 53;mitsugumin-53;tripartite motif-containing 72;tripartite motif-containing protein 72 APPROVED protein-coding ENSG00000177238 HGNC:32671 17412 613288 VALIDATED 1602800 TRIM75P tripartite motif containing 75, pseudogene ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN extracellular space 4 4 4 q32.3 163311477 163313071 + 165980120 165981714 + 165058968 165060562 + 8744354 391714 A6NK02 ABBA01070290;AC108465;AMYH02010436;NG_016722 A6NK02 TRIM75 APPROVED pseudo HGNC:32686 INFERRED 8551201 TRIM77BP tripartite motif containing 77B, pseudogene 11 11 11 p11.12 49289892 49297452 - 49138562 49146122 - 49117010 49124570 - 646770 ABBA01060668;AC118273;AMYH02024763;NG_028906 pseudo HGNC:43980 VALIDATED 2293601 TRIM77 tripartite motif containing 77 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred) 11 11 11 q14.3 85180362 85187935 - 89443467 89451040 + 89710299 89717872 + 16554811;21139048;22144910 390231 I1YAP6;I1YAP7;S4R3H6 ABBA01011516;AMYH02025270;AP003122;JF968445;JF968446;NM_001146162;NM_001271942 AFI99088;AFI99089;I1YAP6;NP_001139634;NP_001258871 Hs.723112 TRIM77P TRIM77-isoform;putative tripartite motif-containing protein 64D;putative tripartite motif-containing protein 77;tripartite motif containing 77, pseudogene;tripartite motif-containing 77;tripartite motif-containing protein 77 APPROVED protein-coding ENSG00000214414 HGNC:34228 VALIDATED 1350983 TRIM74 tripartite motif containing 74 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred); INTERACTS WITH ammonium chloride (ortholog); valproic acid (ortholog) 7 7 7 q11.23 2471 3138 - 72430016 72439997 - 72954811 72969600 - 6480464 12477932;12853948;18398435;19549727;22493164;22939624;23105109 378108 Q86UV6 AC005488;AC211476;AF498999;BC033871;NM_198853;XM_006715978;XM_006715979;XM_006715980;XM_006715981;XM_006715982;XR_428176 AAH33871;AAP30736;ABM81740;ABM84896;NP_942150;Q86UV6;XP_006716041;XP_006716042;XP_006716043;XP_006716044;XP_006716045 Hs.645328 2118154;5114536 GDB:4585495;STS-N62712 MGC45440;TRIM50C OTTHUMP00000160289;OTTHUMP00000160290;tripartite motif-containing 50C;tripartite motif-containing 74;tripartite motif-containing protein 50C;tripartite motif-containing protein 74 APPROVED protein-coding ENSG00000155428 HGNC:17453 15567 612550 PROVISIONAL 1606726 TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase ENCODES a protein that exhibits miRNA binding (ortholog); ubiquitin-protein transferase activity (ortholog); INVOLVED IN fibroblast growth factor receptor signaling pathway (ortholog); G1/S transition of mitotic cell cycle (ortholog); miRNA metabolic process (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasmic mRNA processing body (ortholog); INTERACTS WITH cadmium dichloride; choline (ortholog); folic acid (ortholog) 3 3 3 p22.3 32796792 32870969 + 32859510 32933771 + 32818018 32892279 + 6480464;8554872 15722555;16245339;16247770;17890240;21946350;22735451;23097274;23892092;24602972;24778252 131405 Q2Q1W2 ABBA01024918;ABBA01024919;ABBA01024920;ABBA01024921;ABBA01024922;ABBA01024923;AC139452;AMYH02006505;AMYH02006506;DQ232881;NM_001039111 AAI56153;AAI57053;ABB18374;NP_001034200;Q2Q1W2 Hs.567678 1728579;2138686 D3S4127;G63581 LIN-41;LIN41 E3 ubiquitin-protein ligase TRIM71;OTTHUMP00000208607;abnormal cell LINeage LIN-41;homolog of C. elegans Lin-41;protein lin-41 homolog;tripartite motif-containing 71;tripartite motif-containing protein 71 APPROVED protein-coding HGNC:32669 PROVISIONAL 1316458 TRIM7 tripartite motif containing 7 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 5 5 5 q35.3 176248835 176260088 - 180620924 180632293 - 181193924 181205293 - 1580863;6480464;8554872 11331580;11916970;12477932;14702039;14984203;15489334;16341674;18029348;18854154;21143188;21940674;22939624;8889548 81786 Q9C029 ABBA01010095;AC008443;AF220032;AF396651;AF396652;AF396653;AF396654;AF396655;AK124617;AK314872;AMYH02012917;BC011567;BC080553;BC132863;BC132867;BM825056;BM970007;BQ000256;CH471165;NG_029535;NM_033342;NM_203293;NM_203294;NM_203295;NM_203296;NM_203297;XM_006714923 AAG53486;AAH11567;AAH80553;AAI32864;AAI32868;AAK85377;AAK85378;AAK85379;AAK85380;AAK85381;ABM83511;ABM86729;BAG37387;EAW53715;EAW53716;EAW53717;EAW53718;EAW53719;EAW53720;NP_203128;NP_976038;NP_976039;NP_976040;NP_976041;NP_976042;Q9C029;XP_006714986 Hs.487412 5014039;5022578;5022651;5024039;5037552 D11S2921;D16S325;D1S1423;D22S1584;D8S2279 GNIP;RNF90 OTTHUMP00000161581;OTTHUMP00000161582;OTTHUMP00000161583;OTTHUMP00000221885;RING finger protein 90;glycogenin-interacting protein;tripartite motif protein TRIM7;tripartite motif-containing 7;tripartite motif-containing protein 7 APPROVED protein-coding ENSG00000146054 HGNC:16278 11648 609315 REVIEWED 1345911 TRIM78P tripartite motif containing 78, pseudogene 11 11 p15 5783366 5806681 + 5664412 5687622 + 11331580 117852 AC015691;AC109341;AF230412;AL360159;AL360183;NR_002777 Hs.742023 1681652;1707910;1803192;1804020;1804608;1805110;1808382;1815234;1819324;1821060;1821650;1825604;1828784;1831744;1835900;1836192;1836472;1839736;1845496;1845656;2055734;2055736;2055738;2055740;2055742;2055744;2055746;2055748;2055750;2055752;2055754;2055756;2055758;2055760;2055762;2055764;2055766;2055768;2055770;2055772;2055774;2055776;2055778;2055780;2055782;2055784;2055786;2055788;2055790;2055792;2055794;2055796;2055798;2055800;2055802;2055804;2055806;2055808;2055810;2055812;2055814;2055816;2055818;2055820;2055822;2055824;2055826;2055828;2055830;2055832;2055834;2055836;2055838;2055840;2055842;2055844;2055846;2055848;2055850;2055852;2055854;2055856;2055858;2055860;2055862;2055864;2055866;2055868;2055870;2055872;2055874;2055876;2055878;2055880;2055882;2055884;2055886;2055888;2055890;2055892;2055894;2055896;2055898;2055900;2055902;2055904;2055906;2055908;2055910;2055912;2055914;2055916;2055918;2055920;2055922;2055924;2055926;2055928;2055930;2055932;2055934;2055936;2055938;2055940;2055942;2055944;2106054;2106058;2106060;2106062;2106064;2106066;2106068;2106070;2106072;2106074;2106076;2106078;2108597;2118901;2132148;2165253 ECD02488;ECD02926;ECD03236;ECD03497;ECD05172;ECD08652;ECD10729;ECD11607;ECD11911;ECD13910;ECD15519;ECD17009;ECD19111;ECD19257;ECD19399;ECD21051;ECD23966;ECD24046;REN99031;REN99032;REN99033;REN99034;REN99035;REN99036;REN99037;REN99038;REN99039;REN99040;REN99041;REN99042;REN99043;REN99044;REN99045;REN99046;REN99047;REN99048;REN99049;REN99050;REN99051;REN99052;REN99053;REN99054;REN99055;REN99056;REN99057;REN99058;REN99059;REN99060;REN99061;REN99062;REN99063;REN99064;REN99065;REN99066;REN99067;REN99068;REN99069;REN99070;REN99071;REN99072;REN99073;REN99074;REN99075;REN99076;REN99077;REN99078;REN99079;REN99080;REN99081;REN99082;REN99083;REN99084;REN99085;REN99086;REN99087;REN99088;REN99089;REN99090;REN99091;REN99092;REN99093;REN99094;REN99096;REN99097;REN99098;REN99099;REN99100;REN99101;REN99102;REN99103;REN99104;REN99105;REN99106;REN99107;REN99108;REN99109;REN99110;REN99111;REN99112;REN99113;REN99114;REN99115;REN99116;REN99117;REN99118;REN99119;REN99120;REN99121;REN99122;REN99123;REN99124;REN99125;REN99126;REN99127;REN99128;REN99129;REN99130;REN99131;REN99132;REN99133;REN99134;REN99135;REN99136;REN99137;RH67864;RH71419;RH80365;SHGC-32233;SHGC-82206;TRIM34_8052;stSG611127;stSG611129;stSG611130;stSG611131;stSG611132;stSG611133;stSG611134;stSG611135;stSG611136;stSG611137;stSG611138;stSG611139 TRIMP1 APPROVED pseudo HGNC:17232 1605231 TRIML1 tripartite motif family-like 1 ENCODES a protein that exhibits ligase activity (inferred); zinc ion binding (inferred); INVOLVED IN multicellular organismal development (inferred); protein ubiquitination (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH aflatoxin B1; arsenite(3-); dieldrin (ortholog) 4 4 4 q35.2 186370123 186378284 + 189060598 189068649 + 188137209 188147743 + 6480464;8554872 12477932;14702039;15489334;19156909;21832049;22493164 339976 Q8N9V2 ABBA01070588;AC138781;AK093499;AMYH02010703;AMYH02010704;BC015684;BC113860;BC114469;CH471056;NM_178556;XM_006714207;XM_006714208 AAH15684;AAI13861;AAI14470;BAC04185;EAX04607;EAX04608;NP_848651;Q8N9V2;XP_006714270;XP_006714271 Hs.348618 1337812 D4S2921 FLJ36180;MGC138638;MGC138639;RNF209 OTTHUMP00000217839;RING finger protein 209;probable E3 ubiquitin-protein ligase TRIML1;tripartite motif family-like protein 1 protein-coding ENSG00000184108 HGNC:26698 08774 PROVISIONAL 1319835 TRIM8 tripartite motif containing 8 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to nuclear bodies. Its structure is similar to some tumor suppressor proteins and its gene maps to a locus thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008] 10 10 10 q24.3 98145270 98159115 + 104403326 104418076 + 102643425 102658319 + 1580863;6480464 11118312;11331580;12163497;12477932;15345195;15489334;16385451;17900511;18029348;18248090;18854154;19322201;19549727;20516148;21689689;21988832;22084099;22262183;22493164;22558309;23105109;23152791;23535732 81603 Q5JSM3;Q9BZR9;R4GN03 AA907931;ABBA01063141;AF086326;AF220034;AF281046;AL360160;AL391121;AMYH02023702;BC021925;BG746631;CH471066;NM_030912;XM_006717988;XM_006717989 AAG53087;AAG53488;AAH21925;ABM82945;ABM86135;EAW49679;EAW49680;NP_112174;Q9BZR9;XP_006718051;XP_006718052 Hs.336810 1678271;2157381;5120975 RH93912;SHGC-57253;SHGC-57638 GERP;RNF27 OTTHUMP00000020372;glioblastoma expressed ring finger protein;glioblastoma-expressed RING finger protein;probable E3 ubiquitin-protein ligase TRIM8;ring finger protein 27;tripartite motif protein TRIM8;tripartite motif-containing 8;tripartite motif-containing protein 8 APPROVED protein-coding ENSG00000171206 HGNC:15579 06934 606125 VALIDATED 1602827 TRIML2 tripartite motif family-like 2 ENCODES a protein that exhibits ligase activity (inferred); INVOLVED IN protein ubiquitination (inferred); response to retinoic acid (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; crocidolite asbestos; zinc atom 4 4 4 q35.2 186321751 186335768 - 189012427 189030416 - 188091273 188109262 - 6480464;8554872 12477932;19394292 205860 B7ZLC3;Q6T5J5;Q8N7C3 ABBA01070588;AC108073;AK098667;AK300428;AMYH02010701;AMYH02010702;AY435043;AY435044;BC111959;BC111961;BC143709;CH471056;NM_173553;XM_006714136 AAI11960;AAI11962;AAI43710;AAR11851;AAR11852;BAC05372;BAH13282;EAX04609;NP_775824;Q8N7C3;XP_006714199 Hs.276429 FLJ25801;FLJ56315;MGC138164;MGC138166;SPRYD6 OTTHUMP00000217812;OTTHUMP00000217813;SPRY domain containing 6;SPRY domain-containing protein 6;probable E3 ubiquitin-protein ligase TRIML2;tripartite motif family-like protein 2 protein-coding ENSG00000179046 HGNC:26378 08696 PROVISIONAL 1354482 TRIM73 tripartite motif containing 73 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN intracellular (inferred); INTERACTS WITH 3,4-dichloroaniline; atrazine; diuron 7 7 7 q11.23 2471 3138 - 75021234 75034896 + 75395629 75405613 + 1580863;6480464 12477932;12853948;14702039;15489334;16344560;18398435;22939624 375593 C9JQH3;I3L0H3;J3KQW6;Q86UV7 AC006014;AC211429;AC211486;AF498998;AK094396;AK126632;BC073926;DA452220;NM_198924 AAI52801;AAI56767;AAP30735;NP_944606;Q86UV7 Hs.632307;Hs.645328 2118154;5014051;5015879;5016478;5020881;5022200;5022651;5037552;5114536;5118444;5127372 D11S2921;D11S3316;D8S2278;D8S2279;GDB:314949;GDB:434012;GDB:4585241;GDB:4585495;L17709;L18426;STS-N62712 FLJ99347;MGC45477;TRIM50B OTTHUMP00000209160;OTTHUMP00000209161;OTTHUMP00000209761;tripartite motif-containing 50B;tripartite motif-containing 73;tripartite motif-containing protein 50B;tripartite motif-containing protein 73 APPROVED protein-coding ENSG00000178809 HGNC:18162 18606 612549 VALIDATED 1318006 TRIP11 thyroid hormone receptor interactor 11 This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010] 14 14 14 q31-q32 72486852 72559002 - 92434243 92506484 - 91967899 92040140 - 1580863;6480464;7240710;8554872;8699517 10189370;11463340;12383348;12477932;12508121;15485806;16051665;16341674;16344560;16713569;17081983;17438371;17979178;18029348;18391950;18391951;18451304;19266077;19715559;19730683;20089971;20546612;20881960;21139048;21906983;22792062;23000965;24816145;7776974;8603043;9256431;9373237 9321 G3V4R7;H0YJ97;H0YJI2;Q15643;Q6MZL5 ABBA01030463;ABBA01030464;ABBA01030465;AF007217;AF011368;AK307489;AL049872;AL599917;AMYH02029755;AMYH02029756;AMYH02029757;AW002857;BC002656;BC069008;BC146845;BM770594;BU628691;BX113728;BX486357;BX641024;CH471061;DA111770;L40380;NG_016970;NM_004239;XM_005268213;XM_005268214;XM_005268215;XM_006720321;Y12490 AAB84386;AAC41730;AAD09135;AAI46846;CAA73095;CAE46015;EAW81468;EAW81469;NP_004230;Q15643;XP_005268270;XP_005268271;XP_005268272;XP_006720384 Hs.632339;Hs.741740 1673180;2108605;2131423;2142001;2163806;5015961;5037552;5126362 D15S1477;D8S2279;RH17544;RH17653;RH41983;RH78915;STS-J04802;TRIP11_7940 ACG1A;CEV14;GMAP-210;TRIP-11;TRIP230 Golgi-microtubule-associated protein of 210 kDa;OTTHUMP00000245181;OTTHUMP00000245182;TR-interacting protein 11;clonal evolution-related gene on chromosome 14 protein;golgi-associated microtubule-binding protein 210;thyroid receptor-interacting protein 11 APPROVED protein-coding ENSG00000100815 HGNC:12305 05143 200600;604505 REVIEWED 1318331 TRIP13 thyroid hormone receptor interactor 13 This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009] 5 5 5 p15.33 934119 956942 + 892764 918164 + 892804 918049 + 1580863;6480464;8554872 11591653;12477932;15388255;15489334;15592455;16169070;16189514;17643375;18328944;18781797;19060904;19615732;20473970;20562859;21139048;21145461;21572988;21890473;21906983;21963094;21987572;22174317;22268729;22623531;22678362;22797925;22863883;22939629;22990118;24722188;24778252;25012665;25027693;7776974;9199503;9223484 9319 H0YAL2;Q15645 ABBA01034224;AC122719;AK310376;AMYH02010757;BC000404;BC019294;BG722761;BM999741;CH471102;CR456744;DB443523;L40384;NM_001166260;NM_004237;U96131;XM_005248388 AAB64095;AAC41732;AAH00404;AAH19294;ABZ92274;CAG33025;EAX08185;EAX08186;NP_001159732;NP_004228;Q15645;XP_005248445 Hs.436187 1688334;1778883;2108607;2139737;5014051;5022200;5037552 D8S2278;D8S2279;L18426;RH12369;RH76617;SHGC-31846;TRIP13_7939 16E1BP 16E1-BP;HPV16 E1 protein binding protein;HPV16 E1 protein-binding protein;OTTHUMP00000115407;OTTHUMP00000221361;TR-interacting protein 13;TRIP-13;human papillomavirus type 16 E1 protein-binding protein;pachytene checkpoint protein 2 homolog;thyroid receptor interacting protein 13;thyroid receptor-interacting protein 13 APPROVED protein-coding ENSG00000071539 HGNC:12307 05145 604507 REVIEWED 736868 TRIM9 tripartite motif containing 9 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 14 14 14 q22.1 31309019 31429455 - 51441979 51562422 - 50975261 51095704 - 1580863;6480464;8554872 11331580;11524423;12168954;12477932;14702039;15489334;1602151;16169070;16189514;16344560;17043677;20085810;20379614;21143188;21145461;22493164;23105109;24132900;24778312;9179496 114088 Q9C026 ABBA01018147;ABBA01018148;ABBA01018149;ABBA01018150;ABBA01018151;AK054781;AK055388;AL358334;AL591770;AMYH02029174;AMYH02029175;BC013414;BC063872;BF966522;CH471078;D87458;DA101991;DA173440;KF455886;NM_015163;NM_052978;T77638;XM_005267301;XM_005267302;XM_006720017;XM_006720018 AAH13414;AAH63872;BAA13398;BAB70913;EAW65680;EAW65681;EAW65682;EAW65683;EAW65684;NP_055978;NP_443210;Q9C026;XP_005267358;XP_005267359;XP_006720080;XP_006720081 Hs.654750 1658713;1683707;1690602;1696528;1736466;1762661;1763351;2108603;2115245;2142113;2157652;2167169;2177488 D14S718E;D3S3490;G20596;G35429;G35926;RH69926;RH93318;SHGC-146456;SHGC-147079;SHGC-83253;STS-AA017099;TRIM9_8125;WI-21719 KIAA0282;RNF91;SPRING E3 ubiquitin-protein ligase TRIM9;OTTHUMP00000178971;OTTHUMP00000178972;OTTHUMP00000244861;RING finger protein 91;homolog of rat RING finger Spring;tripartite motif protein 9;tripartite motif-containing 9;tripartite motif-containing protein 9 APPROVED protein-coding ENSG00000100505 HGNC:16288 05947 606555 REVIEWED 732056 TRIP10 thyroid hormone receptor interactor 10 ENCODES a protein that exhibits identical protein binding; INVOLVED IN actin cytoskeleton organization (inferred); endocytosis (inferred); regulation of small GTPase mediated signal transduction (inferred); PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; insulin signaling pathway; FOUND IN extracellular vesicular exosome; intracellular membrane-bounded organelle; nucleus; INTERACTS WITH 8-bromo-3',5'-cyclic AMP; aflatoxin B1; all-trans-retinoic acid 19 19 19 p13.3 6681962 6693779 + 6739693 6751529 + 6739682 6751526 + 1580863;6480464;6484113;6907045 10713100;11069762;11294612;11431473;11691828;12054674;12242347;12456510;12477932;12604778;12736724;14502124;15047863;15163742;15489334;15752756;16189514;16318909;16326391;16343437;16344560;16418535;16630611;17081983;17512409;17785506;18329367;18330356;19041431;19056867;19631450;19632321;20940394;21044950;21139048;21299869;21906983;22863883;23644527;23915320;7776974;8125298;9210375 9322 M0R070;M0R0F9;M0R2H7;Q15642;W4VSQ9 AB007845;AB072596;ABBA01051474;AC008760;AF380114;AF502289;AJ000414;AK223109;AK313296;AL832186;AMYH02035362;AY081141;BC013002;BG494851;BQ931996;BT006698;BT020167;BT020171;CB997985;CH471139;CR536513;DB198268;L40379;NM_001288962;NM_001288963;NM_004240;NR_110231;XM_005259683;XM_006722940;XR_430161 AAC41729;AAH13002;AAK77492;AAL89588;AAM46851;AAP35344;AAV38969;AAV43773;ABM83673;ABM86961;BAB88853;BAD96829;BAF80144;BAG36103;CAA04062;CAG38751;EAW69060;EAW69061;EAW69062;EAW69063;EAW69064;EAW69065;NP_001275891;NP_001275892;NP_004231;Q15642;XP_005259740;XP_006723003 Hs.515094 1677284;1689382;1713175;1734610;1847057;2107709 D19S618E;RH120374;RH80227;RH98259;STS-W88625;TRIP10_7208 CIP4;HSTP;STOT;STP;TRIP-10 OTTHUMP00000196789;OTTHUMP00000196790;OTTHUMP00000196791;TR-interacting protein 10;cdc42-interacting protein 4;protein Felic;salt tolerant protein;salt tolerator;thyroid receptor interacting protein 10;thyroid receptor-interacting protein 10 protein-coding ENSG00000125733 HGNC:12304 05142 604504 VALIDATED 1315680 TRIP4 thyroid hormone receptor interactor 4 ENCODES a protein that exhibits ligand-dependent nuclear receptor binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH atrazine; cyclosporin A; methyl methanesulfonate 15 15 15 q22.31 41558018 41625175 + 64680003 64747502 + 64387804 64455303 + 1580863;6480464;8554872 10454579;10567404;11500849;12077347;12390891;12477932;12938929;15489334;15592455;18029348;19074642;20133760;20211142;20873783;21890473;21906983;21988832;24162737;7776974 9325 H0YK63;H0YKD9;H0YL91;H0YLN7;H3BMU9;Q15650 ABBA01038887;ABBA01038888;ABBA01038889;ABBA01038890;AC087632;AC091231;AK000433;AK314319;AMYH02030604;AMYH02030605;AMYH02030606;AMYH02030607;BC012448;BG166305;BQ225927;CA425850;CH471082;L40371;NM_016213;XM_005254789;XR_243130 AAC41738;AAH12448;ABZ92275;BAG36967;EAW77684;EAW77685;NP_057297;Q15650;XP_005254846 Hs.500340 1667414;2169369 RH78914;SGC30293 ASC-1;ASC1;HsT17391;TRIP-4;ZC2HC5 OTTHUMP00000164011;TR-interacting protein 4;activating signal cointegrator 1;thyroid receptor interacting protein 4;thyroid receptor-interacting protein 4;zinc finger, C2HC5-type protein-coding ENSG00000103671 HGNC:12310 05140 604501 VALIDATED 1605399 TRIOBP TRIO and F-actin binding protein This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008] 22 22 22 q13.1 21894838 21974375 + 38092995 38172563 + 37696988 37776556 + 6480464;7240710;8554872;8699517 10591208;11076863;11148140;11258795;12168954;12477932;14702039;15489334;15489336;16169070;16344560;16381901;16385457;16385458;17081983;17629495;18029348;18194665;19322201;19913121;19996280;20301607;20360068;20628086;21988832;22820163;8500161;8889548;9853615 11078 F6TR96;F6WMF4;F6WYE2;H0Y5J9;H0Y5T8;H7BXW4;Q9H2D6 AB015343;ABBA01055483;ABBA01055484;ABBA01055485;ABBA01055486;AF281030;AK096634;AL713698;AMYH02038339;AMYH02038340;AW444985;BC003618;BC004303;BC013278;BC022200;BM682463;BQ880866;BU621193;BU675400;BX342673;CH471095;DA790674;DQ228003;DQ228004;DQ228005;NG_012857;NM_001039141;NM_007032;NM_138632;Z83844 AAG44841;AAH03618;AAH04303;AAH13278;ABB59559;ABB59560;ABB59561;BAA34800;CAD28497;CAL37626;CAL37676;EAW60181;EAW60182;EAW60183;EAW60184;EAW60185;EAW60186;NP_001034230;NP_008963;NP_619538;Q9H2D6 Hs.533030 1652005;1659259;2155453;5015861;5015961;5023733;5037552;7185938 AU048745;D10S16;D15S1477;D8S2279;RH70132;SHGC-32573;STS-R01098 DFNB28;FLJ39315;HRIHFB2122;KIAA1662;TAP68;TARA;dJ37E16.4 OTTHUMP00000198149;OTTHUMP00000198152;OTTHUMP00000198153;TRIO and F-actin-binding protein;tara-like protein;trio-associated repeat on actin APPROVED protein-coding ENSG00000100106 HGNC:17009 11028 609761;609823 REVIEWED 2300870 TRK-CTT1-1 transfer RNA-Lys (CTT) 1-1 14;MT 14 58706613 58706685 - 58239895 58239967 - 18984615 100189107 ABBA01018253;AL132989;AMYH02029273;HG983908 TRNAK13 APPROVED trna HGNC:34668 MODEL 2300964 TRK-CTT1-2 transfer RNA-Lys (CTT) 1-2 15;MT 15 79152904 79152976 + 78860562 78860634 + 18984615 100189013 ABBA01060597;AC103975;AMYH02030869;HG983909 TRNAK6 APPROVED trna HGNC:34572 MODEL 1318084 TRIO trio Rho guanine nucleotide exchange factor ENCODES a protein that exhibits ATP binding (inferred); enzyme binding (inferred); guanyl-nucleotide exchange factor activity (inferred); INVOLVED IN apoptotic signaling pathway (inferred); axon guidance (inferred); neurotrophin TRK receptor signaling pathway (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 5 5 5 p15.2 14168142 14532209 + 14143817 14510313 + 14143708 14510204 + 1580863;6480464;8554872 10341202;10948190;11146652;11595749;11756498;12376548;12477932;12551902;12787561;14702039;15199069;15215162;15308664;15489334;16033331;16094384;16169070;16752383;17043677;17081983;17391702;17606614;18519826;18936096;19008376;19911011;20083228;20379614;21139048;22238672;22323290;22558309;22696684;22939629;23177739;23776197;24025145;24250222;24859002;25065758;8643598;9154137;9790533 7204 E7EPJ7;E7EWP2;F5H228;O75962 AB115332;AB209754;ABBA01020636;ABBA01020637;ABBA01020638;AC010419;AC016549;AC016654;AC016656;AC026456;AF091395;AI478154;AK124770;AK131423;AK304786;AMYH02010891;AMYH02010892;AMYH02010893;AMYH02010894;BC017268;BC035585;BF058117;BQ009698;BQ691537;CH471102;KC876940;NM_007118;U42390;XM_006714495;XR_241714 AAC34245;AAC43042;AAH17268;AAH35585;BAC79392;BAD18570;BAD92991;BAG65537;EAX08044;EAX08045;EAX08046;EAX08047;EAX08048;NP_009049;O75962;XP_006714558 Hs.130031 1647583;1652111;1662386;1664387;1677947;1688516;1695840;1717821;1748339;1767091;1770804;1778756;1849688;2114926;2117572;2122946;2132239;2155011;2156838;2161408;2170559;2172218;2172750;5093576 A007A12;A009S08;D5S2635;D5S2889;D5S2891;D5S2903;D5S2906;G32800;G66896;HSC2LD052;RH121821;RH12640;RH16320;RH45695;RH78758;RH80554;SGC35149;SHGC-35052;SHGC-78779;STS-H82060;WI-11436;WI-15185;WI-15727;WI-18318 ARHGEF23;FLJ42780;tgat OTTHUMP00000161689;OTTHUMP00000220780;OTTHUMP00000221690;PTPRF-interacting protein;triple functional domain (PTPRF interacting);triple functional domain protein APPROVED protein-coding ENSG00000038382 HGNC:12303 03537 601893 VALIDATED 1353366 TRIP6 thyroid hormone receptor interactor 6 This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 7 7 7 q22 95195527 95201655 + 100464950 100471076 + 100867328 100873454 + 1580863;6480464;6907045 10400701;10794523;10826496;11239002;11336797;11771657;11782456;12477932;12533418;12690205;14688263;14702039;15148318;15489293;15489334;15657077;15761153;16137684;16189514;16240724;16624523;16713569;16880273;17081983;17353931;17652164;18348201;18654987;19017743;19060904;19259951;19293149;19616115;20368287;20876301;21139048;21689746;21963094;21988832;22054418;22286099;22863883;22939629;22990020;23088713;23145173;23313295;23339869;23576104;24033704;24722188;7776974;9466265;9598321 7205 F2ZC06;H7BZE2;Q15654 AB628085;AB628086;AB628087;AB628088;ABBA01013176;ABBA01013177;AC011895;AF000974;AF025437;AF093836;AF312032;AJ001902;AK056773;AK291906;AK309312;AMYH02016392;BC002680;BC004249;BC004999;BC021540;BC028985;BM800083;CH236956;CH471091;CR749505;L40374;NM_003302 AAB62222;AAC39557;AAC41740;AAD03037;AAH02680;AAH04249;AAH04999;AAH21540;AAH28985;AAK21007;ABM83819;ABM87139;BAF84595;BAK20496;BAK20497;BAK20498;BAK20499;CAA05080;CAH18326;EAL23817;EAW76471;EAW76472;EAW76473;EAW76474;NP_003293;Q15654 Hs.534360 1659990;2135342;2166527;5112143 A002D09;D7S2888;RH101934;SHGC-30159 MGC10556;MGC10558;MGC29959;MGC3837;MGC4423;OIP-1;OIP1;TRIP-6;TRIP6i2;ZRP-1 OPA-interacting protein 1;OTTHUMP00000211326;TR-interacting protein 6;thyroid hormone receptor interacting protein 6;thyroid receptor-interacting protein 6;zyxin related protein 1;zyxin-related protein 1 APPROVED protein-coding ENSG00000087077 HGNC:12311 04242 602933 REVIEWED 1315318 TRIP12 thyroid hormone receptor interactor 12 ENCODES a protein that exhibits thyroid hormone receptor binding; ubiquitin-protein transferase activity; INVOLVED IN cellular response to DNA damage stimulus; negative regulation of double-strand break repair; negative regulation of histone H2A K63-linked ubiquitination; PARTICIPATES IN ataxia telangiectasia-mutated (ATM) signaling pathway; ubiquitin/proteasome degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleoplasm; nucleus; INTERACTS WITH arsenite(3-); arsenous acid; benzo[a]pyrene diol epoxide I 2 2 2 q36.3 224407870 224562590 - 230631098 230786763 - 229763837 229922032 - 1580863;6480464;6907045;8554872;8661242 24002223 12421765;12477932;14702039;15231748;15302935;16344560;16964243;17081983;17110338;17643375;18627766;19028681;19596686;19615732;19730683;20208519;20379614;20699639;20829358;21139048;21182205;21890473;21906983;22053931;22124266;22505724;22561347;22586326;22884692;22939629;23000965;23034180;23209776;23383273;23663701;24332808;24457600;24769896;24816145;7584044;7776974;8889548;9575161 9320 B4DYJ6;C9JLD7;C9JLJ5;C9JSX9;F8W9P3;G5E9G6;H7C1L9;H7C2Y1;Q14669 ABBA01050137;ABBA01050138;ABBA01050139;ABBA01050140;ABBA01050141;ABBA01050142;AC009973;AC093384;AC105380;AK128481;AK302468;AK310971;AMYH02005947;BC037956;BC113891;BC114556;BM677880;CH471063;D28476;DB240964;EU489742;L40383;NM_001284214;NM_001284215;NM_001284216;NM_004238;XM_005246954;XM_005246955;XM_005246956;XM_005246957;XM_005246958;XM_005246960;XM_005246961;XM_005246962;XM_005246963;XM_006712852;XM_006712853 AAC41731;AAI13892;AAI14557;AAX82004;AAY14681;AAY14755;ACC99349;BAA05837;BAG63758;EAW70896;EAW70897;EAW70898;EAW70899;EAW70900;EAW70901;EAW70902;EAW70903;EAW70904;EAW70905;EAW70906;EAW70907;EAW70908;NP_001271143;NP_001271144;NP_001271145;NP_004229;Q14669;XP_005247011;XP_005247012;XP_005247013;XP_005247014;XP_005247015;XP_005247017;XP_005247018;XP_005247019;XP_005247020;XP_006712915;XP_006712916 Hs.572642;Hs.591633;Hs.601806 1298283;1648437;1650425;1701036;1725809;1746003;1750409;2134659;2152068;2167486;2218844;5111586;7186398 D2S396;G29175;G61991;RH104145;RH125936;RH16559;RH25281;RH68235;SHGC-112584;SHGC-33448;TRIP12_3930;WI-15836 KIAA0045;MGC138849;MGC138850;TRIP-12;ULF E3 ubiquitin-protein ligase TRIP12;E3 ubiquitin-protein ligase for Arf;OTTHUMP00000204207;OTTHUMP00000204209;OTTHUMP00000204210;TR-interacting protein 12;probable E3 ubiquitin-protein ligase TRIP12;thyroid receptor interacting protein 12;thyroid receptor-interacting protein 12 protein-coding ENSG00000153827 HGNC:12306 05144 604506 VALIDATED 2299991 TRIQK triple QxxK/R motif containing ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum membrane (inferred); integral component of membrane (inferred); INTERACTS WITH (+)-catechin; benzo[a]pyrene diol epoxide I; ethyl methanesulfonate 8 8 8 q22.1 90082622 90165219 - 93895758 93978372 - 92883530 92966144 - 6480464;8554872 12477932;14702039;16344560;18828657;24816145 286144 E5RG44;E5RGJ1;E5RIT1;Q629K1 ABBA01037432;AC027242;AC117834;AF130048;AK096398;AK097956;AMYH02018410;BC031029;BC065838;BC104254;BC104255;BC110326;BC113007;BC113008;BQ009934;BX474727;CB989812;CH471060;CR749421;DA093687;DA115453;DA191587;DQ351291;NM_001171795;NM_001171796;NM_001171797;NM_001171798;NM_001171799;NM_001191035;NM_001191036;XM_006716545;XM_006716546 AAG35476;ABC84190;CAH56121;EAW91691;EAW91692;NP_001165266;NP_001165267;NP_001165268;NP_001165269;NP_001165270;NP_001177964;NP_001177965;Q629K1;XP_006716608;XP_006716609 Hs.440643 1690796;1853620;2120608;2126259;2135512;2136226;2136484;2137393;5092846;5093040 A006K02;A009E36;D8S2096;G31519;G32366;G32484;RH64836;RH65066;RH80008;STS-R99251 C8orf83;DKFZp779L1068;FLJ40637;PRO0845;UPF0599 OTTHUMP00000226026;OTTHUMP00000226027;OTTHUMP00000226028;OTTHUMP00000226110;OTTHUMP00000226111;OTTHUMP00000226112;OTTHUMP00000226113;OTTHUMP00000226114;OTTHUMP00000226115;OTTHUMP00000226116;OTTHUMP00000226117;OTTHUMP00000226168;OTTHUMP00000226169;OTTHUMP00000226170;hypothetical protein LOC286144;triple QxxK/R motif-containing protein;triple repetitive-sequence of QXXK/R;triple repetitive-sequence of QXXK/R protein homolog APPROVED protein-coding ENSG00000205133 HGNC:27828 VALIDATED 2300610 TRK-CTT10-1 transfer RNA-Lys (CTT) 10-1 MT 1 1 18984615 100189367 AD000090;HG983922 TRNAK30 APPROVED trna HGNC:34935 2300513 TRK-CTT12-1 transfer RNA-Lys (CTT) 12-1 1 1 p34.3 38252031 38252103 + 39970195 39970267 + 18984615 100189464 AL365277;HG983924;NG_008522 TRNAK36P APPROVED pseudo HGNC:35036 INFERRED 2300666 TRK-CTT11-1 transfer RNA-Lys (CTT) 11-1 MT 1 1 18984615 100189311 AC011460;HG983923 TRNAK28 APPROVED trna HGNC:34878 2300538 TRK-CTT13-1 transfer RNA-Lys (CTT) 13-1 1 1 q24.1 138671311 138671383 + 165566150 165566222 + 18984615 100189439 AL356441;HG983925;NG_008599 TRNAK35P APPROVED pseudo HGNC:35009 INFERRED 2300978 TRK-CTT15-1 transfer RNA-Lys (CTT) 15-1 MT 1 1 18984615 100188999 AC087377;HG983927 TRNAK5 APPROVED trna HGNC:34556 2300510 TRK-CTT14-1 transfer RNA-Lys (CTT) 14-1 16 16 16 p13.3 3451822 3451894 + 3246153 3246225 + 3196153 3196225 + 18984615 100189467 ABBA01026730;AJ003147;AMYH02031284;HG983926;NG_008525 TRNAK37P APPROVED pseudo HGNC:35039 INFERRED 2300779 TRK-CTT2-1 transfer RNA-Lys (CTT) 2-1 1;MT 1 145395522 145395594 - 146039401 146039473 + 18984615 100189198 ABBA01005750;AC239799;AL355505;HG983910 TRNAK20 APPROVED trna HGNC:34761 MODEL 2300441 TRK-CTT16-1 transfer RNA-Lys (CTT) 16-1 15 15 15 q24.3 53600975 53601048 - 76674765 76674838 - 76382424 76382497 - 18984615 100189536 ABBA01060551;AC090179;AMYH02030834;HG983928;NG_008594 TRNAK42P APPROVED pseudo HGNC:35113 INFERRED 2300695 TRK-CTT2-2 transfer RNA-Lys (CTT) 2-2 16;MT 16 3225692 3225764 + 3175691 3175763 + 18984615 100189282 ABBA01026729;AJ003147;AMYH02031284;HG983911 TRNAK26 APPROVED trna HGNC:34848 MODEL 2300578 TRK-CTT2-3 transfer RNA-Lys (CTT) 2-3 5;MT 5 180634755 180634827 + 181207755 181207827 + 18984615 100189399 ABBA01010095;AC008443;AMYH02012917;HG983912 TRNAK33 APPROVED trna HGNC:34967 MODEL 1312422 TRIT1 tRNA isopentenyltransferase 1 ENCODES a protein that exhibits ATP binding (inferred); metal ion binding (inferred); transferase activity (inferred); INVOLVED IN tRNA processing (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH acetylsalicylic acid; atrazine; bisphenol A 1 1 1 p34.2 38588146 38630620 - 40306703 40349177 - 39841031 39883505 - 1580863;6480464 11111046;11560893;12477932;14702039;15489334;15870694;16169070;16344560;16710414;17081983;17145094;20095854;20379614;20877624;23349019;23455924;24126054;24250222;8125298 54802 B4DK89;B4E3K2;Q3T7B4;Q3T7B8;Q53F11;Q5QPK7;Q9H3H1;S4R2X1;S4R2Z0;S4R3C5;S4R3F4;S4R3U8 ABBA01023197;ABBA01023198;AF074918;AK000068;AK074222;AK223478;AK296453;AK304759;AK307910;AL033527;AMYH02000837;AMYH02000838;AY052768;AY303390;AY702933;AY702934;AY702935;AY702936;AY702937;AY702938;AY702939;AY702940;AY702941;AY702942;AY702943;AY702944;AY702945;AY702946;AY702947;BC010741;BC107569;BC128155;BC128156;CH471059;CR457226;DA031689;NM_017646;XM_005270954;XM_006710706;XR_246278 AAG31324;AAH10741;AAI07570;AAI28156;AAI28157;AAL14107;AAP60111;AAW63394;AAW63395;AAW63396;AAW63397;AAW63398;AAW63399;AAW63400;AAW63401;AAW63402;AAW63403;AAW63404;AAW63405;AAW63406;AAW63407;BAA90923;BAD97198;BAG59101;BAG65514;CAG33507;EAX07252;EAX07253;NP_060116;Q9H3H1;XP_005271011;XP_006710769 Hs.356554 1338717;2133718;2171007 D1S1598;HSC2EC052;SHGC-74639 FLJ20061;IPPT;IPT;MGC149242;MGC149243;MOD5;hGRO1 IPP transferase;IPTase;OTTHUMP00000010832;OTTHUMP00000010833;OTTHUMP00000010834;isopentenyl-diphosphate:tRNA isopentenyltransferase;tRNA dimethylallyltransferase, mitochondrial;tRNA isopentenylpyrophosphate transferase protein-coding ENSG00000043514 HGNC:20286 18226 VALIDATED 2300867 TRK-CTT2-5 transfer RNA-Lys (CTT) 2-5 6;MT 6 26556774 26556846 + 26556546 26556618 + 18984615 100189110 ABBA01066558;AL121936;AMYH02013354;HG983914 2135646 D6S2357 TRNAK14 APPROVED trna HGNC:34671 MODEL 2300858 TRK-CTT3-1 transfer RNA-Lys (CTT) 3-1 16;MT 16 3207406 3207478 - 3157405 3157477 - 18984615 100189119 ABBA01026729;AC108134;AMYH02031283;HG983915 TRNAK15 APPROVED trna HGNC:34681 MODEL 2300915 TRK-CTT4-1 transfer RNA-Lys (CTT) 4-1 16;MT 16 3241501 3241573 + 3191501 3191573 + 18984615 100189062 ABBA01026730;AJ003147;AMYH02031284;HG983916 TRNAK9 APPROVED trna HGNC:34621 MODEL 1642402 TRK-CTT2-4 transfer RNA-Lys (CTT) 2-4 5;MT 5 q35.3 180648979 180649051 - 181221979 181222051 - 18984615;2766931 790966 ABBA01010096;AC008443;AMYH02012917;HG983913;M33940 TRK2;TRNAK2 APPROVED trna HGNC:33199 612996 MODEL 2300768 TRK-CTT5-1 transfer RNA-Lys (CTT) 5-1 16;MT 16 3230555 3230627 - 3180554 3180626 - 18984615 100189209 ABBA01026729;AJ003147;AMYH02031284;HG983917 TRNAK21 APPROVED trna HGNC:34772 MODEL 2300733 TRK-CTT8-1 transfer RNA-Lys (CTT) 8-1 MT 3186582 3186654 + 18984615 100189244 ABBA01026729;AC108134;HG983920 TRNAK24 APPROVED trna HGNC:34807 MODEL 2300982 TRK-CTT6-1 transfer RNA-Lys (CTT) 6-1 18;MT 18 43669271 43669343 - 46089305 46089377 - 18984615 100188995 ABBA01022325;AC012569;AMYH02034653;HG983918 TRNAK4 APPROVED trna HGNC:34552 MODEL 2300454 TRK-CTT7-1 transfer RNA-Lys (CTT) 7-1 1 1 p 16879957 16880028 + 16553462 16553533 + 18984615 101056699 AC244231;AL355149;HG983919;NG_032957 TRNAL48;TRNAQ49P;TRNAV13 APPROVED pseudo HGNC:35098 INFERRED 2300797 TRK-CTT9-1 transfer RNA-Lys (CTT) 9-1 MT 26165128 26165200 - 18984615 100189180 ABBA01066648;AC093294;HG983921 TRNAK18 APPROVED trna HGNC:34742 MODEL 2300852 TRK-TTT1-1 transfer RNA-Lys (TTT) 1-1 16;MT 16 73512216 73512288 - 73478317 73478389 - 18984615 100189125 ABBA01005311;AC009104;AMYH02032362;HG983929 TRNAK17 APPROVED trna HGNC:34687 MODEL 2300873 TRK-TTT11-1 transfer RNA-Lys (TTT) 11-1 MT 1 1 18984615 100189104 AC009509;HG983943 TRNAK12 APPROVED trna HGNC:34665 2300926 TRK-TTT12-1 transfer RNA-Lys (TTT) 12-1 MT 1 1 18984615 100189051 AC010619;HG983944 TRNAK7 APPROVED trna HGNC:34610 2300438 TRK-TTT13-1 transfer RNA-Lys (TTT) 13-1 6 6 6 p22.1 30267379 30267452 - 28660987 28661060 - 28693210 28693283 - 18984615 100189539 ABBA01038025;AL390196;AL671879;AMYH02013397;HG983945;NG_008597 TRNAK43P APPROVED pseudo HGNC:35116 INFERRED 2300463 TRK-TTT14-1 transfer RNA-Lys (TTT) 14-1 14 14 q24.3 54091622 54091694 - 74055529 74055601 - 18984615 100189514 AC005225;HG983946;NG_008572 1646162 G38216 TRNAK40P APPROVED pseudo HGNC:35089 INFERRED 2300473 TRK-TTT15-1 transfer RNA-Lys (TTT) 15-1 2 2 2 q36.1 217952109 217952181 - 224186315 224186387 - 223321597 223321669 - 18984615 100189504 ABBA01023799;AC068035;AMYH02005874;HG983947;NG_008562 TRNAK39P APPROVED pseudo HGNC:35079 INFERRED 2300585 TRK-TTT16-1 transfer RNA-Lys (TTT) 16-1 MT 1 1 18984615 100189392 AC104523;HG983948 TRNAK32 APPROVED trna HGNC:34960 2300458 TRK-TTT17-1 transfer RNA-Lys (TTT) 17-1 8 8 8 p22 17086167 17086236 + 18120203 18120272 + 18262694 18262763 + 18984615 100189519 ABBA01021574;AC124242;AMYH02017545;HG983949;NG_008577 TRNAK41P APPROVED pseudo HGNC:35094 INFERRED 2300683 TRK-TTT2-1 transfer RNA-Lys (TTT) 2-1 11;MT 11 122430655 122430727 + 122559947 122560019 + 18984615 100189294 AMYH02025702;AP003042;HG983930 TRNAK27 APPROVED trna HGNC:34860 MODEL 2300855 TRK-TTT3-1 transfer RNA-Lys (TTT) 3-1 1;MT 1 204475655 204475727 + 204506527 204506599 + 18984615 100189122 ABBA01027442;AL606489;AMYH02002536;HG983931 TRNAK16 APPROVED trna HGNC:34684 MODEL 2300552 TRK-TTT3-2 transfer RNA-Lys (TTT) 3-2 1;MT 1 204476158 204476230 - 204507030 204507102 - 18984615 100189425 ABBA01027442;AL606489;AMYH02002536;HG983932 TRNAK34 APPROVED trna HGNC:34994 MODEL 1625452 TRK-TTT3-3 transfer RNA-Lys (TTT) 3-3 11;MT 11 q12.1 59327808 59327880 - 59560335 59560407 - 17012271;18984615;3678837 100049613 ABBA01021502;AMYH02024865;AP000442;HG983933;M17621 TRNAK3 APPROVED trna HGNC:33256 MODEL 1351507 TRK-TTT3-4 transfer RNA-Lys (TTT) 3-4 17;MT 17 p13.1 8022473 8022545 + 8119155 8119227 + 18984615;2066114;3678837;6296772 7206 ABBA01054897;AC129492;AMYH02032919;HG983934;K01797 TRK1;TRNAK1 trna lysine 1 APPROVED trna HGNC:12314 189918 MODEL 2300743 TRK-TTT3-5 transfer RNA-Lys (TTT) 3-5 6;MT 6 28918806 28918878 + 28951029 28951101 + 18984615 100189234 ABBA01038029;AL662865;AL662871;AL954865;AMYH02013403;BX248109;BX927167;CR936883;HG983935 TRNAK22 APPROVED trna HGNC:34797 MODEL 2300924 TRK-TTT4-1 transfer RNA-Lys (TTT) 4-1 6;MT 6 27559593 27559665 - 27591814 27591886 - 18984615 100189053 ABBA01038000;AL021918;AMYH02013383;HG983936 TRNAK8 APPROVED trna HGNC:34612 MODEL 2300739 TRK-TTT5-1 transfer RNA-Lys (TTT) 5-1 11;MT 11 59323902 59323974 + 59556429 59556501 + 18984615 100189238 ABBA01021502;AMYH02024865;AP003778;HG983937 TRNAK23 APPROVED trna HGNC:34801 MODEL 2300497 TRK-TTT10-1 transfer RNA-Lys (TTT) 10-1 19 19 19 q13.2 38548299 38548371 - 41748142 41748214 - 41242237 41242309 - 18984615 100189480 ABBA01040803;AC011510;AMYH02036131;HG983942;NG_008538 TRNAK38P APPROVED pseudo HGNC:35053 INFERRED 2300795 TRK-TTT6-1 transfer RNA-Lys (TTT) 6-1 6;MT 6 27302769 27302841 - 27334990 27335062 - 18984615 100189182 ABBA01037993;AL021808;AMYH02013382;HG983938 TRNAK19 APPROVED trna HGNC:34745 MODEL 2300645 TRK-TTT7-1 transfer RNA-Lys (TTT) 7-1 6;MT 6 28715521 28715593 + 28747744 28747816 + 18984615 100189332 ABBA01038026;AL662890;AL671879;AMYH02013400;BX088523;BX908720;CR753651;HG983939 TRNAK29 APPROVED trna HGNC:34900 MODEL 2300879 TRK-TTT8-1 transfer RNA-Lys (TTT) 8-1 1;MT 1 205443271 205443343 + 205474143 205474215 + 18984615 100189098 ABBA01027415;AC098936;AMYH02002548;HG983940 1762845 SHGC-146616 TRNAK11 APPROVED trna HGNC:34659 MODEL 2300587 TRK-TTT9-1 transfer RNA-Lys (TTT) 9-1 6;MT 6 27543846 27543918 + 27576067 27576139 + 18984615 100189390 ABBA01038000;AL021918;AMYH02013383;HG983941 TRNAK31 APPROVED trna HGNC:34958 MODEL 2300615 TRL-AAG1-1 transfer RNA-Leu (AAG) 1-1 5;MT 5 180524474 180524555 - 181097474 181097555 - 18984615 100189362 ABBA01010090;AC008620;AMYH02012916;HG983868 TRNAL34 APPROVED trna HGNC:34930 MODEL 2300704 TRL-AAG1-2 transfer RNA-Leu (AAG) 1-2 5;MT 5 180528840 180528921 + 181101840 181101921 + 18984615 100189273 AC008620;AMYH02012917;HG983869 TRNAL24 APPROVED trna HGNC:34836 MODEL 1349810 TRL-AAG2-1 transfer RNA-Leu (AAG) 2-1 14;MT 14 q11.2 21078291 21078372 + 20610132 20610213 + 1686015;17656376;18984615;1899574 7207 ABBA01061233;AL163195;AMYH02028825;HG983871;M63633 TRL1;TRNAL1;TRNP1 transfer RNA leucine 1 (anticodon CUU);trna leucine 1 APPROVED trna HGNC:12315 189932 MODEL 2300973 TRL-AAG1-3 transfer RNA-Leu (AAG) 1-3 5;MT 5 180601044 180601125 - 181174044 181174125 - 18984615 100189004 ABBA01010093;AC008620;AMYH02012917;HG983870 TRNAL4 APPROVED trna HGNC:34561 MODEL 2300686 TRL-AAG2-2 transfer RNA-Leu (AAG) 2-2 16;MT 16 22308461 22308542 + 22297140 22297221 + 18984615 100189291 ABBA01003842;AC009034;AC241556;HG983872 TRNAL27 APPROVED trna HGNC:34857 MODEL 2300649 TRL-AAG2-3 transfer RNA-Leu (AAG) 2-3 5;MT 5 180614701 180614782 + 181187701 181187782 + 18984615 100189328 ABBA01010095;AC008443;AMYH02012917;HG983873 TRNAL32 APPROVED trna HGNC:34895 MODEL 2300775 TRL-AAG2-4 transfer RNA-Leu (AAG) 2-4 6;MT 6 28911399 28911480 - 28943622 28943703 - 18984615 100189202 ABBA01038029;AL662865;AL662871;AL954865;AMYH02013403;BX248109;BX927167;CR936883;HG983874 TRNAL20 APPROVED trna HGNC:34765 MODEL 2300808 TRL-AAG3-1 transfer RNA-Leu (AAG) 3-1 6;MT 6 28956779 28956860 + 28989002 28989083 + 18984615 100189169 ABBA01038029;AL662791;AL662865;AL929561;AMYH02013405;BX248109;BX927167;CR759835;CR759957;HG983875 TRNAL17 APPROVED trna HGNC:34731 MODEL 2300859 TRL-AAG4-1 transfer RNA-Leu (AAG) 4-1 6;MT 6 28446400 28446481 - 28478623 28478704 - 18984615 100189118 ABBA01038019;AMYH02013394;HG983876;Z98745 TRNAL12 APPROVED trna HGNC:34680 MODEL 2300548 TRL-AAG6-1 transfer RNA-Leu (AAG) 6-1 MT 1 1 18984615 100189429 AL354889;HG983878 TRNAL39 APPROVED trna HGNC:34998 2300934 TRL-AAG5-1 transfer RNA-Leu (AAG) 5-1 MT 1 1 18984615 100189043 AC016907;HG983877 TRNAL9 APPROVED trna HGNC:34602 2300484 TRL-AAG7-1 transfer RNA-Leu (AAG) 7-1 5 5 5 q35.3 176218967 176219048 - 180591564 180591645 - 181164564 181164645 - 18984615 100189493 ABBA01010093;AC008620;AMYH02012917;HG983879;NG_008551 TRNAL43P APPROVED pseudo HGNC:35068 INFERRED 2300628 TRL-AAG8-1 transfer RNA-Leu (AAG) 8-1 MT 1 1 18984615 100189349 AC069410;HG983880 TRNAL33 APPROVED trna HGNC:34917 8663250 TRL-CAA1-1 transfer RNA-Leu (CAA) 1-1 MT 1 1 103456511 HG983881 TRNAL49 trna HGNC:38583 2300740 TRL-CAA1-2 transfer RNA-Leu (CAA) 1-2 6;MT 6 28908830 28908934 + 28941053 28941157 + 100189237 ABBA01038029;AL662865;AL662871;AL954865;AMYH02013403;BX248109;BX927167;CR936883;HG983882 TRNAL22 APPROVED trna HGNC:34800 MODEL 2300676 TRL-CAA2-1 transfer RNA-Leu (CAA) 2-1 6;MT 6 27573417 27573524 - 27605638 27605745 - 100189301 ABBA01038000;AL021918;AMYH02013384;HG983883 TRNAL28 APPROVED trna HGNC:34867 MODEL 2300778 TRL-CAA4-1 transfer RNA-Leu (CAA) 4-1 1;MT 1 249168054 249168159 + 248873855 248873960 + 100189199 ABBA01002094;AL672294;AMYH02003156;HG983885 TRNAL19 APPROVED trna HGNC:34762 MODEL 2300939 TRL-CAA3-1 transfer RNA-Leu (CAA) 3-1 6;MT 6 27570348 27570454 - 27602569 27602675 - 100189038 ABBA01038000;AL021918;AMYH02013384;HG983884 TRNAL8 APPROVED trna HGNC:34597 MODEL 2300607 TRL-CAA5-1 transfer RNA-Leu (CAA) 5-1 11;MT 11 9296790 9296863 + 9275243 9275316 + 18984615 100189370 ABBA01061197;AC055845;AMYH02024309;HG983886 TRNAL36 APPROVED trna HGNC:34938 MODEL 2300974 TRL-CAA6-1 transfer RNA-Leu (CAA) 6-1 1;MT 1 161581736 161581819 - 161611946 161612029 - 18984615 100189003 ABBA01005656;AC243971;AL451067;HG983887 TRNAL3 APPROVED trna HGNC:34560 MODEL 2300478 TRL-CAA7-1 transfer RNA-Leu (CAA) 7-1 10 10 p11.21 34356766 34356833 - 34591416 34591483 - 18984615 100189499 AL390766;HG983888;NG_008557 TRNAL44P APPROVED pseudo HGNC:35074 INFERRED 2300583 TRL-CAG1-1 transfer RNA-Leu (CAG) 1-1 1;MT 1 161411323 161411405 + 161441533 161441615 + 18984615 100189394 ABBA01016588;AC244471;AL831711;HG983889 TRNAL38 APPROVED trna HGNC:34962 MODEL 2300968 TRL-CAG1-2 transfer RNA-Leu (CAG) 1-2 1;MT 1 161418741 161418823 + 161448951 161449033 + 18984615 100189009 AL590385;HG983890 TRNAL5 APPROVED trna HGNC:34568 MODEL 2300661 TRL-CAG1-3 transfer RNA-Leu (CAG) 1-3 1;MT 1 161426122 161426204 + 161456332 161456414 + 18984615 100189316 ABBA01136092;AC244471;AL590385;HG983891 TRNAL30 APPROVED trna HGNC:34883 MODEL 2300613 TRL-CAG1-4 transfer RNA-Leu (CAG) 1-4 1;MT 1 161433532 161433614 + 161463742 161463824 + 18984615 100189364 AL590385;HG983892 TRNAL35 APPROVED trna HGNC:34932 MODEL 2300838 TRL-CAG1-5 transfer RNA-Leu (CAG) 1-5 1;MT 1 161440913 161440995 + 161471123 161471205 + 18984615 100189139 AC243546;AL590385;HG983893 TRNAL14 APPROVED trna HGNC:34701 MODEL 2300959 TRL-CAG1-6 transfer RNA-Leu (CAG) 1-6 1;MT 1 161500132 161500214 - 161530342 161530424 - 18984615 100189018 ABBA01047318;AC243509;AL590385;HG983894 TRNAL6 APPROVED trna HGNC:34577 MODEL 2300847 TRL-CAG2-1 transfer RNA-Leu (CAG) 2-1 16;MT 16 57333863 57333945 + 57299951 57300033 + 18984615 100189130 ABBA01025269;AC108081;AMYH02032102;HG983896 TRNAL13 APPROVED trna HGNC:34692 MODEL 2300689 TRL-CAG1-7 transfer RNA-Leu (CAG) 1-7 6;MT 6 26521436 26521518 + 26521208 26521290 + 18984615 100189288 ABBA01066557;AL121936;AMYH02013353;HG983895 TRNAL26 APPROVED trna HGNC:34854 MODEL 2300888 TRL-CAG2-2 transfer RNA-Leu (CAG) 2-2 16;MT 16 57334392 57334474 - 57300480 57300562 - 18984615 100189089 ABBA01025269;AC108081;AMYH02032102;HG983897 TRNAL11 APPROVED trna HGNC:34649 MODEL 2300773 TRL-CAG3-1 transfer RNA-Leu (CAG) 3-1 MT 1 1 18984615 100189204 AC068657;HG983898 TRNAL21 APPROVED trna HGNC:34767 2300664 TRL-TAA1-1 transfer RNA-Leu (TAA) 1-1 6;MT 6 144537684 144537766 + 144216547 144216629 + 18984615 100189313 ABBA01025740;AL135917;AMYH02014642;HG983899 TRNAL29 APPROVED trna HGNC:34880 MODEL 2300813 TRL-TAA2-1 transfer RNA-Leu (TAA) 2-1 6;MT 6 27688898 27688980 - 27721119 27721201 - 18984615 100189164 ABBA01038008;AL009179;AMYH02013388;HG983900 TRNAL16 APPROVED trna HGNC:34726 MODEL 2300737 TRL-TAA3-1 transfer RNA-Leu (TAA) 3-1 11;MT 11 59319228 59319310 + 59551755 59551837 + 18984615 100189240 ABBA01021502;AMYH02024864;AP003778;HG983901 TRNAL23 APPROVED trna HGNC:34803 MODEL 2300910 TRL-TAA4-1 transfer RNA-Leu (TAA) 4-1 6;MT 6 27198334 27198416 - 27230555 27230637 - 18984615 100189067 ABBA01037991;AL021808;AMYH02013379;HG983902 TRNAL10 APPROVED trna HGNC:34626 MODEL 2300802 TRL-TAA5-1 transfer RNA-Leu (TAA) 5-1 MT 1 1 18984615 100189175 AL158051;HG983903 TRNAL18 APPROVED trna HGNC:34737 1352300 TRL-TAG1-1 transfer RNA-Leu (TAG) 1-1 17;MT 17 p13.1 8023632 8023713 - 8120314 8120395 - 12086967;18984615;2066114;3637777;6296772 7208 ABBA01054897;AC129492;AMYH02032919;HG983904;K01797;X04117 TRL2;TRNAL2 trna leucine 2 APPROVED trna HGNC:12316 189920 MODEL 2300826 TRL-TAG2-1 transfer RNA-Leu (TAG) 2-1 14;MT 14 21093529 21093610 + 20625370 20625451 + 18984615 100189151 ABBA01061233;AL163195;AMYH02028825;HG983905 TRNAL15 APPROVED trna HGNC:34713 MODEL 2300536 TRL-TAG4-1 transfer RNA-Leu (TAG) 4-1 14 14 14 q11.2 1006050 1006131 - 21145178 21145259 - 20677019 20677100 - 18984615 100189441 ABBA01061234;AL163636;AMYH02028826;HG983907;NG_008497 TRNAL40P APPROVED pseudo HGNC:35011 INFERRED 2300945 TRL-TAG3-1 transfer RNA-Leu (TAG) 3-1 16;MT 16 22207032 22207113 - 22195711 22195792 - 18984615 100189032 ABBA01003845;AC009019;AC241411;AMYH02031679;HG983906 TRNAL7 APPROVED trna HGNC:34591 MODEL 2300776 TRM-CAT1-1 transfer RNA-Met (CAT) 1-1 8;MT 8 124169470 124169542 - 123157230 123157302 - 18984615 100189201 ABBA01037866;AC068228;AMYH02018703;HG983950 TRNAM11 APPROVED trna HGNC:34764 MODEL 2300866 TRM-CAT3-2 transfer RNA-Met (CAT) 3-2 6;MT 6 28921042 28921114 - 28953265 28953337 - 18984615 100189111 ABBA01038029;AL662865;AL662871;AL954865;AMYH02013403;BX248109;BX927167;CR936883;HG983953 TRNAM8 APPROVED trna HGNC:34673 MODEL 2300842 TRM-CAT2-1 transfer RNA-Met (CAT) 2-1 16;MT 16 71460396 71460468 + 71426493 71426565 + 18984615 100189135 ABBA01016777;AC010547;AMYH02032314;HG983951 TRNAM9 APPROVED trna HGNC:34697 MODEL 2300761 TRM-CAT3-1 transfer RNA-Met (CAT) 3-1 6;MT 6 28912352 28912424 + 28944575 28944647 + 18984615 100189216 ABBA01038029;AL662865;AL662871;AL954865;AMYH02013403;BX248109;BX927167;CR936883;HG983952 TRNAM12 APPROVED trna HGNC:34779 MODEL 2300877 TRM-CAT4-1 transfer RNA-Met (CAT) 4-1 MT 1 1 18984615 100189100 AL591044;HG983954 TRNAM7 APPROVED trna HGNC:34661 2300623 TRM-CAT4-2 transfer RNA-Met (CAT) 4-2 6;MT 6 26758550 26758622 - 26743263 26743335 + 18984615 100189354 ABBA01031631;AL591044;AMYH02013367;HG983955 TRNAM19 APPROVED trna HGNC:34922 MODEL 2300674 TRM-CAT5-1 transfer RNA-Met (CAT) 5-1 6;MT 6 26701483 26701555 + 26701483 26701555 + 18984615 100189303 AL591044;AMYH02013354;HG983957 TRNAM16 APPROVED trna HGNC:34869 MODEL 2300586 TRM-CAT4-3 transfer RNA-Met (CAT) 4-3 6;MT 6 26766444 26766516 + 26735370 26735442 - 18984615 100189391 AL591044;HG983956 TRNAM20 APPROVED trna HGNC:34959 MODEL 2300751 TRM-CAT6-1 transfer RNA-Met (CAT) 6-1 16;MT 16 87417628 87417700 - 87384022 87384094 - 18984615 100189226 ABBA01034328;AC010531;AMYH02032614;HG983958 TRNAM13 APPROVED trna HGNC:34789 MODEL 2300892 TRM-CAT7-1 transfer RNA-Met (CAT) 7-1 6;MT 6 58168492 58168564 - 57842214 57842286 - 18984615 100189085 AL021368;AMYH02013786;HG983959 TRNAM5 APPROVED trna HGNC:34645 MODEL 1346845 TRMEP1 tRNA methionine elongator pseudogene 1 6 6 6 p22.1 30054930 30055002 + 28448503 28448575 + 28480726 28480798 + 8293999 7211 ABBA01038019;AMYH02013394;L15363;NG_001205;Z98745 pseudo HGNC:12321 INFERRED 1601995 TRMT1 tRNA methyltransferase 1 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN tRNA methylation (inferred); INTERACTS WITH afimoxifene; all-trans-retinoic acid; arsenous acid 19 19 19 p13.2 13106119 13117969 - 13215714 13227573 - 13104900 13117112 - 6480464 10982862;12477932;14702039;15057824;15489334;16189514;16964243;21044950;21139048;21906983;21963094;22505724;22863883;22939629;24778252;24816145;25027693 55621 A8K8L2;K7EJX9;K7EMZ2;K7ENI9;K7EQQ8;K7EQU7;K7EQY6;K7ERR5;Q9NXH9 ABBA01029754;ABBA01029755;AC005546;AF075055;AF196479;AK000251;AK292377;AK295245;AK304636;AMYH02035568;BC002492;BC018302;BC034242;BC040126;BF798026;CH471106;DC344734;NM_001136035;NM_001142554;NM_017722;XM_005259983;XM_006722793;XM_006722794 AAC33150;AAG28495;AAH02492;AAH18302;AAH40126;ADZ15558;BAA91031;BAF85066;BAG58237;BAG65415;EAW84345;EAW84346;EAW84347;EAW84348;EAW84349;EAW84350;EAW84351;NP_001129507;NP_001136026;NP_060192;Q9NXH9;XP_005260040;XP_006722856;XP_006722857 Hs.515169 1686424;1734696;2143310;2166004 D19S694E;RH47064;RH80493;WI-19708 FLJ20244;TRM1 N(2),N(2)-dimethylguanosine tRNA methyltransferase;TRM1 tRNA methyltransferase 1 homolog;tRNA (guanine(26)-N(2))-dimethyltransferase;tRNA 2,2-dimethylguanosine-26 methyltransferase;tRNA(guanine-26,N(2)-N(2)) methyltransferase;tRNA(m(2,2)G26)dimethyltransferase APPROVED protein-coding ENSG00000104907 HGNC:25980 08617 611669 VALIDATED 1319496 TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN magnesium ion homeostasis (inferred); methylation (inferred); ASSOCIATED WITH Delayed puberty (inferred); Hyperinsulinemic hypoglycemia (inferred); Intellectual disability (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; coumestrol; hydrogen peroxide 4 4 4 q23 97765280 97782608 - 100467864 100485189 - 99546707 99564032 - 737633;1580863;6480464;8699517 12477932 19056867;22863883 93587 D6R954;Q8TBZ6;V9HVY8;X6REK4 ABBA01063673;ABBA01063674;AC083902;AF106046;AK000332;AK313548;AMYH02009798;AW242551;BC028373;CH471057;EU668342;NM_001134665;NM_001134666;NM_152292;XM_005263352;XM_006714417;XM_006714418 AAD21019;AAH28373;ACF94495;BAG36324;EAX06104;EAX06105;NP_001128137;NP_001128138;NP_689505;Q8TBZ6;XP_005263409;XP_006714480;XP_006714481 Hs.380412 1698476;2152392 RH102787;STS-AA001648 FLJ20325;HEL-S-88;MGC27034;MSSGM;RG9MTD2;TRM10 OTTHUMP00000161650;OTTHUMP00000161651;OTTHUMP00000161652;OTTHUMP00000220442;OTTHUMP00000220443;RNA (guanine-9-) methyltransferase domain containing 2;RNA (guanine-9-)-methyltransferase domain-containing protein 2;epididymis secretory protein Li 88;tRNA methyltransferase 10 homolog A APPROVED protein-coding ENSG00000145331 HGNC:28403 15241 616013;616033 VALIDATED 6484039 TRMT112P1 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 1 4 4 q26 117300040 117300610 + 116378884 116379454 + 100288861 ABBA01063860;AC024248;AMYH02009972;NG_027524 pseudo HGNC:44020 INFERRED 1321812 TRMT10B tRNA methyltransferase 10 homolog B (S. cerevisiae) ENCODES a protein that exhibits methyltransferase activity (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH amiodarone; copper(2+) sulfate; paracetamol 9 9 9 p13.2 37686996 37712164 + 37753797 37778969 + 37753800 37778972 + 737633;1580863;6480464 12477932 14702039;17207965;21988832 158234 B7Z9F7;F5H380;F5H4N3;F5H598;Q6PF06 ABBA01050388;AK056017;AK092718;AK294219;AK295733;AK304516;AK315922;AL138752;AL591470;AMYH02019500;AMYH02019501;AMYH02019502;BC012175;BC057774;CA440955;CH471071;CR986760;EC553146;HY066525;NM_001286950;NM_001286951;NM_001286952;NM_001286953;NM_001286954;NM_144964;NR_104612;XM_005251373;XM_005251375;XM_005251379;XM_006716722 AAH12175;AAH57774;ADQ32960;BAB71074;BAC03957;BAH11702;BAH12169;BAH14204;BAH14293;EAW58265;EAW58266;EAW58267;EAW58268;EAW58269;NP_001273879;NP_001273880;NP_001273881;NP_001273882;NP_001273883;NP_659401;Q6PF06;XP_005251430;XP_005251432;XP_005251436;XP_006716785 Hs.655614 1686378;1687624;1699064;1738261;1738271;1854243;5015322;5015404;5016478;5020946;5022450;5024413;5037552;5109281 D10S275;D10S512;D1S1425;D8S2279;D9S1220;D9S1226;D9S2015;GDB:434012;L17705;L17877;L17971;RH103107;RH91760;RH92533 FLJ31455;RG9MTD3;RP11-3J10.9;bA3J10.9 OTTHUMP00000021393;OTTHUMP00000021394;RNA (guanine-9-) methyltransferase domain containing 3;RNA (guanine-9-)-methyltransferase domain-containing protein 3;tRNA methyltransferase 10 homolog B APPROVED protein-coding ENSG00000165275 HGNC:26454 15242 VALIDATED 6484014 TRMT112P3 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 3 17 17 17 q23.2 55416419 55416848 - 61028025 61028549 - 62950664 62951188 - 729667 ABBA01035336;AC005972;AMYH02033769;NG_027522 pseudo HGNC:44022 INFERRED 1314894 TRMT10C tRNA methyltransferase 10 homolog C (S. cerevisiae) This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012] 3 3 3 q12.3 99673048 99677425 + 101280680 101285290 + 101561836 101566446 + 737633;1580863;6480464 12477932 10508479;16341674;17207965;18029348;18984158;19615732;20877624;21139048;21145461;21593607;21857155;21907836;21963094;22028365;22797925;23443559;23473034;23755257;24337577;24816145;25027693 54931 C9JVB6;Q7L0Y3 ABBA01061774;AC073861;AF086243;AF155111;AF226052;AK000439;AK026532;AMYH02007316;AY561707;BC035967;BM752893;BU619586;CH471052;NM_017819 AAD42877;AAF86952;AAH35967;AAS66980;ADQ32147;BAA91166;EAW79795;NP_060289;Q7L0Y3 Hs.594839;Hs.740864;Hs.744223 1653896;1699570;1854333;2149279;2182794 RH103386;RH78769;SHGC-36007;SHGC-57475;STS-H77546 FLJ20432;HNYA;MRPP1;RG9MTD1 HBV pre-S2 trans-regulated protein 2;NY-REN-49 antigen;OTTHUMP00000214121;OTTHUMP00000214122;RNA (guanine-9-) methyltransferase domain containing 1;RNA (guanine-9-)-methyltransferase domain-containing protein 1;mitochondrial RNase P protein 1;mitochondrial RNase P subunit 1;mitochondrial ribonuclease P protein 1;renal carcinoma antigen NY-REN-49 APPROVED protein-coding ENSG00000174173 HGNC:26022 15240 615423 REVIEWED 1314969 TRMT11 tRNA methyltransferase 11 homolog (S. cerevisiae) ENCODES a protein that exhibits methyltransferase activity (inferred); nucleic acid binding (inferred); tRNA binding (inferred); INVOLVED IN methylation (inferred); tRNA processing (inferred); PARTICIPATES IN histidine metabolic pathway; tyrosine metabolic pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; benzene 6 6 6 q11.1-q22.33 127049859 127102703 + 126307576 126360422 + 125986430 126039276 + 6480464;6907045 12477932;14574404;15489334;15592455;19615732;20308539;21102462;22386179;24250222;24816145 60487 H0Y768;K7EJQ4;K7ENP1;K7EPZ4;Q5JY01;Q5JY02;Q7Z4G4;V9GXZ6 ABBA01025943;AF182423;AF532977;AK308651;AL035689;AMYH02014437;BC056878;CH471051;NM_001031712;XM_006715546 AAG14959;AAH56878;AAQ10284;EAW48124;EAW48125;EAW48126;EAW48127;NP_001026882;Q7Z4G4;XP_006715609 Hs.404186 1688207;1690616;1719811;2154734 D6S2021;RH123598;RH92418;RH92854 C6orf75;MDS024;TRM11;TRMT11-1 OTTHUMP00000017153;OTTHUMP00000017154;chromosome 6 open reading frame 75;tRNA (guanine(10)-N2)-methyltransferase homolog;tRNA guanosine-2'-O-methyltransferase TRM11 homolog protein-coding ENSG00000066651 HGNC:21080 12898 VALIDATED 1604820 TRMT112 tRNA methyltransferase 11-2 homolog (S. cerevisiae) ENCODES a protein that exhibits protein methyltransferase activity; INVOLVED IN peptidyl-glutamine methylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; protein complex; INTERACTS WITH atrazine; cyclosporin A; diazinon 11 11 11 q13.1 61410247 61411117 - 64084163 64085455 - 64316492 64318084 - 6480464;8554872 10931946;11042152;12477932;15146197;15231747;15489334;15635413;17353931;18539146;20639865;21139048;21145461;21890473;21906983;21963094;21987572;22053931;22505724;22863883;22939629;23000965;23166591;24250222 51504 F5GX77;F5GYQ2;F5GZZ7;Q9UI30 ABBA01003296;AF110774;AF161501;AF229068;AK312050;AMYH02024933;AP001453;BC017172;BC029482;BC105294;BE791577;BG533234;CB054126;CH471076;CN362692;CS488887;KF455402;NM_001286082;NM_001286084;NM_016404 AAF14857;AAF29116;AAF82266;AAH17172;AAH29482;AAI05295;ABM83187;ABM86389;BAG34986;CAM55961;EAW74251;EAW74252;EAW74253;NP_001273011;NP_001273013;NP_057488;Q9UI30 Hs.333579 1660884;1719759;2154736;2167495 G33076;RH123571;SGC30525;WI-8671 HSPC152;HSPC170;TRM112;TRMT11-2 OTTHUMP00000237051;OTTHUMP00000237052;OTTHUMP00000237053;OTTHUMP00000237320;TRM112-like protein;tRNA methyltransferase 112 homolog APPROVED protein-coding ENSG00000173113 HGNC:26940 13705 VALIDATED 6484041 TRMT112P4 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 4 9 9 q31.1 104118580 104119126 - 101356298 101356844 - 100288173 ABBA01042874;AC216089;AL359893;AMYH02021354;NG_027523 pseudo HGNC:44023 INFERRED 6484056 TRMT112P6 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 6 2 2 2 p23.3 26091351 26091758 - 26250902 26251493 - 26028033 26028624 - 391358 ABBA01045170;AC013449;AMYH02003453;NG_027521 pseudo HGNC:44025 INFERRED 6484030 TRMT112P7 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 7 8 8 q11.23 55391953 55392553 - 54479393 54479993 - 100287567 ABBA01041744;AC091076;AMYH02018003;NG_027525 pseudo HGNC:44026 INFERRED 1604003 TRMT13 tRNA methyltransferase 13 homolog (S. cerevisiae) ENCODES a protein that exhibits metal ion binding (inferred); methyltransferase activity (inferred); INVOLVED IN methylation (inferred); tRNA processing (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; levonorgestrel; paracetamol 1 1 1 p21.2 98855584 98872932 + 100598669 100616054 + 100133113 100150498 + 6480464 11799066;12477932;14702039;15489334;16710414;19322201 54482 Q5VVK9;Q5VVL2;Q9NUP7 ABBA01045445;AK001149;AK002081;AK289404;AK294738;AK295828;AK298941;AL445928;AL699548;AMYH02001554;BC057226;BC075811;CH471097;CR745287;NM_019083;XM_005270945;XM_005270946;XR_246273;XR_246274;XR_246275;XR_246276 AAH75811;BAA91520;BAA92074;BAF82093;BAG57881;BAG58644;BAG61041;EAW72970;EAW72971;EAW72972;EAW72973;NP_061956;Q9NUP7;XP_005271002;XP_005271003 Hs.729095 1671101;2134705 D1S1582;SHGC-34523 CCDC76;FLJ10287;FLJ11219 OTTHUMP00000012532;coiled-coil domain containing 76;coiled-coil domain-containing protein 76;tRNA [Gm4] methyltransferase;tRNA guanosine-2'-O-methyltransferase TRM13 homolog;tRNA:m(4)X modification enzyme TRM13 homolog APPROVED protein-coding ENSG00000122435 HGNC:25502 07659 VALIDATED 1317348 TRMT1L tRNA methyltransferase 1 homolog (S. cerevisiae)-like This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene. [provided by RefSeq, Jan 2011] 1 1 1 q25.2 158197913 158236811 - 185087217 185126230 - 185118085 185157098 - 6480464 11318611;12477932;14702039;15635413;16196087;16344560;17198746;17314511;19156129;20020773;21139048;21145461;21252943;21832049;22174317;22939629;22990118;24654937;24816145 81627 B4DXX1;Q7Z2T5;X6RK96 ABBA01027723;AF163261;AF288399;AK027418;AK074936;AK074993;AK098359;AK131460;AK226103;AK302166;AK312801;AL109865;AL136133;AMYH02002306;BC026883;BC035430;BC039738;BC045535;BC053961;BU198525;CH471067;CQ783798;DB093548;DC398320;NM_001202423;NM_030934 AAG60618;AAH39738;AAH45535;AAQ13590;BAC11302;BAC11341;BAD18605;BAG35660;BAG63533;CAF86867;EAW91189;EAW91190;NP_001189352;NP_112196;Q7Z2T5 Hs.107149 1650519;1676234 RH46035;SHGC-76037 C1orf25;MGC25112;MGC57134;MST070;MSTP070;TRM1L;bG120K12.3 OTTHUMP00000033400;TRM1 tRNA methyltransferase 1-like;TRM1-like protein;TRMT1-like protein APPROVED protein-coding ENSG00000121486 HGNC:16782 12722 611673 REVIEWED 1604368 TRMT2A tRNA methyltransferase 2 homolog A (S. cerevisiae) The protein encoded by this gene is of unknown function. However, it is orthologous to the mouse Trmt2a gene and contains an RNA methyltransferase domain. Expression of this gene varies during the cell cycle, with aberrant expression being a possible biomarker in certain breast cancers. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 22 22 22 q11.21 3951448 3956818 - 20099389 20104818 - 20111866 20117295 - 6480464 10591208;12477932;14702039;15461802;15489334;18029348;18075473;19615732;20307320;21252943;21832049;21890473;21900206;21903422;22678362;22939629;24163370;24250222;24778252;9417108 27037 C9K041;F2Z2W7;H7BZZ4;H7C100;Q8IZ69 ABBA01005394;AC006547;AI539558;AK025106;AK057029;AK304068;AMYH02038056;BC013352;BC017184;BC108251;BI756672;BX349507;BX349795;CA440188;CH471176;CR456354;NM_001257994;NM_022727;NM_182984;XM_005261234 AAH13352;AAH17184;AAI08252;BAB15067;BAB71349;BAG64975;CAG30240;EAX02995;EAX02996;EAX02997;NP_001244923;NP_073564;NP_892029;Q8IZ69;XP_005261291 Hs.713579 1694808;1777195;2128909 G43633;RH78249;WI-16098 HTF9C;MGC102728 OTTHUMP00000197397;OTTHUMP00000197442;OTTHUMP00000197443;OTTHUMP00000197445;TRM2 tRNA methyltransferase 2 homolog A;hpaII tiny fragments locus 9c protein;tRNA (uracil-5-)-methyltransferase homolog A;tRNA methyltransferase 2 homolog A APPROVED protein-coding ENSG00000099899 HGNC:24974 13719 611151 REVIEWED 1602178 TRMT44 tRNA methyltransferase 44 homolog (S. cerevisiae) The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012] 4 4 4 p16.1 8335839 8371588 + 8442532 8478282 + 8440804 8509653 + 6480464;8554872 12477932;14702039;15489334;15815621;16861910;21658913;21659360;21906983;22118674;8889548 152992 H0YDS2;Q8IYL2 ABBA01008699;AC104825;AC105345;AK022953;AK092387;AK093044;AK096417;AMYH02008699;BC035655;CA450523;CB991944;CH471131;NG_032691;NM_152544;XM_005247950;XM_006713862;XR_427468 AAH35655;BAC04031;EAW82337;NP_689757;Q8IYL2;XP_005248007;XP_006713925 Hs.566191;Hs.734761 2135027;2135029;2168067;2189181;2189183 G65117;G65118;RH16557;SGC32060;SHGC-33352 C4orf23;FLJ12891;FLJ35725;METTL19;TRM44 OTTHUMP00000217511;OTTHUMP00000217512;methyltransferase like 19;methyltransferase-like protein 19;probable tRNA (uracil-O(2)-)-methyltransferase APPROVED protein-coding ENSG00000155275 HGNC:26653 08760 614309 REVIEWED 1350620 TRMT2B tRNA methyltransferase 2 homolog B (S. cerevisiae) This gene encodes a homolog of the TRM2 gene in S. cerevisiae. The yeast gene encodes a tRNA methyltransferase that plays a role in tRNA maturation. The yeast protein also has endo-exonuclease activity and may be involved in DNA double strand break repair. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Nov 2009] X X X q22.1 100783109 100825878 - 100264334 100307105 - 101009345 101052116 - 737633;6480464 12477932 14702039;16344560;21139048;24250222 79979 Q96GJ1 ABBA01044927;ABBA01044928;ABBA01044929;ABBA01044930;ABBA01044931;AI222705;AK022749;AK315780;AL109952;AL133275;AL832849;AMYH02040061;AMYH02040062;BC007526;BC008067;BC009437;BC020116;BC034272;BG747665;BX647969;CH471115;DA391184;DA454040;NG_015971;NM_001167970;NM_001167971;NM_001167972;NM_024917;XM_005262195;XM_005262196;XM_005262197;XM_005262199;XM_005262200;XM_005262201;XM_006724705;XM_006724706;XM_006724707;Z97985 AAH07526;AAH08067;AAH09437;AAH20116;AAH34272;BAB14223;BAG38128;CAI46112;EAX02831;EAX02832;EAX02833;EAX02834;EAX02835;EAX02836;EAX02837;EAX02838;NP_001161442;NP_001161443;NP_001161444;NP_079193;Q96GJ1;XP_005262252;XP_005262253;XP_005262254;XP_005262256;XP_005262257;XP_005262258;XP_006724768;XP_006724769;XP_006724770 Hs.496501 1698656;5022450;5022651 D10S275;D11S2921;RH102886 CXorf34;FLJ12687;dJ341D10.3 OTTHUMP00000023664;OTTHUMP00000023665;OTTHUMP00000023666;OTTHUMP00000023667;TRM2 homolog;TRM2 tRNA methyltransferase 2 homolog B;tRNA (uracil(54)-C(5))-methyltransferase homolog;tRNA (uracil-5-)-methyltransferase homolog APPROVED protein-coding ENSG00000188917 HGNC:25748 06520 REVIEWED 1315256 TRMT5 tRNA methyltransferase 5 tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008] 14 14 14 q23.1 41488423 41498046 - 61438159 61447888 - 60971441 60981170 - 6480464 10718198;12477932;15248782;15489334;18029348;18187620;21139048;21906983;23887145;24816145 57570 G3V494;G3V5X1;Q32P41 AB037814;ABBA01018292;AK293158;AL160236;AMYH02029304;BC029638;BC063551;BC108284;BC136606;BC136607;BQ050607;CH471061;DB448202;DC370229;KF455905;NM_020810;XM_005267916 AAI08285;AAI36607;AAI36608;BAA92631;BAG56703;EAW80792;NP_065861;Q32P41;XP_005267973 Hs.380159 1767148;5038352 ECD09439;RH79203 KIAA1393;MGC111453;TRM5 M1G-methyltransferase;OTTHUMP00000245747;TRM5 tRNA methyltransferase 5 homolog;tRNA (guanine(37)-N1)-methyltransferase;tRNA (guanine-N(1)-)-methyltransferase;tRNA [GM37] methyltransferase;tRNA methyltransferase 5 homolog;tRNA-N1G37 methyltransferase APPROVED protein-coding ENSG00000126814 HGNC:23141 17213 611023 VALIDATED 1604623 TRMT6 tRNA methyltransferase 6 homolog (S. cerevisiae) This gene encodes a member of the tRNA methyltransferase 6 protein family. A similar protein in yeast is part of a two component methyltransferase, which is involved in the posttranslational modification that produces the modified nucleoside 1-methyladenosine in tRNAs. Modified 1-methyladenosine influences initiator methionine stability and may be involved in the replication of human immunodeficiency virus type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 p12.3 5990095 6002785 - 5918479 5931204 - 5937833 5950558 - 6480464 10574461;10810093;11780052;12477932;14702039;15489334;16043508;18976975;19448621;21139048;21145461;21890473;21906983;21988832;22505724;22863883;22939629;24816145 51605 Q9UJA5 AB032979;ABBA01053893;AF132943;AI291549;AK000613;AK300812;AK308648;AK309205;AL035461;AL556917;AMYH02036653;BC001262;CH471133;DC348968;NM_001281467;NM_015939;XM_005260721 AAD27718;AAH01262;BAA86467;BAG62468;EAX10406;EAX10407;NP_001268396;NP_057023;Q9UJA5;XP_005260778 Hs.128791 2153435 SHGC-33687 CGI-09;GCD10;Gcd10p;MGC5029 OTTHUMP00000030210;tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6;tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6;tRNA(m1A58)-methyltransferase subunit TRM6;tRNA(m1A58)MTase subunit TRM6 APPROVED protein-coding ENSG00000089195 HGNC:20900 13027 REVIEWED 1343016 TRMT61A tRNA methyltransferase 61 homolog A (S. cerevisiae) ENCODES a protein that exhibits tRNA (adenine-N1-)-methyltransferase activity (inferred); INVOLVED IN tRNA methylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); tRNA (m1A) methyltransferase complex (inferred); INTERACTS WITH arsenous acid; copper(2+) sulfate; diarsenic trioxide 14 14 14 q32 84049737 84057638 + 103995509 104003410 + 103529172 103537073 + 737633;6480464;8554872 12477932 11181995;14702039;15489334;16043508;21139048;21145461;21963094;22863883;22939629;23752268;24654937 115708 H0Y2Q1;Q96FX7 ABBA01048422;AK097771;AL133367;AL139300;AMYH02029927;BC007241;BC010167;BC016033;BQ015210;CH471061;DB496873;NM_152307 AAH10167;AAH16033;BAC05168;EAW81823;EAW81824;EAW81825;NP_689520;Q96FX7 Hs.525610 1783002;2120943 RH66763;SHGC-107528 C14orf172;FLJ40452;GCD14;Gcd14p;TRM61;hTRM61 OTTHUMP00000246784;tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A;tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRM61;tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61A;tRNA(m1A58)-methyltransferase subunit TRM61;tRNA(m1A58)-methyltransferase subunit TRMT61A;tRNA(m1A58)MTase subunit TRM61;tRNA(m1A58)MTase subunit TRMT61A protein-coding ENSG00000166166 HGNC:23790 08810 VALIDATED 2300657 TRN-ATT1-1 transfer RNA-Asn (ATT) 1-1 MT 1 1 18984615 100189320 AL451043;HG983627 1712649;1718997 RH121989;RH123205 TRNAN26 APPROVED trna HGNC:34887 8694061 TRN-ATT1-2 transfer RNA-Asn (ATT) 1-2 MT 1 1 18984615 103581030 HG983628 trna HGNC:50812 1602887 TRMT61B tRNA methyltransferase 61 homolog B (S. cerevisiae) ENCODES a protein that exhibits tRNA (adenine-N1-)-methyltransferase activity; INVOLVED IN mitochondrial tRNA methylation; protein homooligomerization; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion; INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; elemental selenium 2 2 2 p23.2 28917698 28938355 - 29072687 29093175 - 28849821 28870309 - 6480464;8554872 11230166;12477932;17207965;20562859;21903422;21988832;23097428;24250222;8125298 55006 F8WDR2;H7C2E8;Q9BVS5 ABBA01045240;ABBA01045241;ABBA01045242;AC097720;AK225524;AK225551;AL136689;AMYH02003500;AMYH02003501;AMYH02003502;BC000952;BC010365;CH471053;NM_017910;XM_005264393;XM_005264394;XM_006712037;XR_244945 AAH00952;AAH10365;AAY24015;ADQ32730;CAB66624;EAX00524;EAX00525;NP_060380;Q9BVS5;XP_005264450;XP_005264451;XP_006712100 Hs.468026 1665822 WI-15096 DKFZp564I2178;FLJ20628 OTTHUMP00000158543;OTTHUMP00000200986;potential tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61B;potential tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61B;tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial protein-coding ENSG00000171103 HGNC:26070 07935 VALIDATED 2300851 TRN-GTT1-1 transfer RNA-Asn (GTT) 1-1 1;MT 1 161510031 161510104 + 161540241 161540314 + 18984615 100189126 ABBA01047318;AC243509;AL590385;HG983629 TRNAN14 APPROVED trna HGNC:34688 MODEL 2300460 TRN-GTT10-1 transfer RNA-Asn (GTT) 10-1 1 1;MT q21.1 121109853 121109926 - 143663558 143663631 - 18984615 100189517 BX284650;HG983645 TRNAN35;TRNAN35P APPROVED trna HGNC:35092 1605990 TRMT12 tRNA methyltransferase 12 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008] 8 8 8 q24.13 121651199 121653418 + 125463048 125465267 + 124450807 124453026 + 6480464 12477932;14702039;15342556;15489334;16005430;17150819;17440925;8125298 55039 E5RHH6;Q53H54 AA608716;ABBA01037895;AC090192;AF313041;AK000779;AK222727;AK225083;AMYH02018717;BC003057;BC011713;BP342608;CH471060;NM_017956 AAH03057;AAH11713;BAA91374;BAD96447;EAW92062;NP_060426;Q53H54 Hs.9925 2129123 D8S1919 FLJ20772;TRM12;TYW2 OTTHUMP00000228204;alpha-amino-alpha-carboxypropyl transferase TYW2;homolog of yeast tRNA methyltransferase;tRNA methyltranferase 12 homolog;tRNA wybutosine-synthesizing protein 2 homolog;tRNA(Phe) (4-demethylwyosine(37)-C(7)) aminocarboxypropyltransferase;tRNA-yW synthesizing protein 2;tRNA-yW-synthesizing protein 2 APPROVED protein-coding ENSG00000183665 HGNC:26091 07947 611244 VALIDATED 1322577 TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 22 22 22 q13 30638682 30660621 + 46731298 46753237 + 46335401 46357340 + 1580863;6480464;7240710;8554872;8699517 10591208;12477932;14702039;14746906;15146197;15461802;15509579;15944150;16341674;16513084;16826519;18391568;19209188;19338775;19732863;20301595;20301607;20877624;21153446;21890497;21906983;22504945;23510774 55687 B4DZN5;O75648;Q2PPL4;Q2PPL5 AB178028;ABBA01010445;AF448221;AK000212;AK001002;AK055295;AK093743;AK290712;AK295173;AK303020;AL031588;AMYH02038536;AY062123;BC012076;BC027991;BC066593;BC080631;BM755897;BX952612;CH471138;CN365141;CR456445;DN997542;DQ309998;DQ309999;DQ310000;NG_012173;NM_001282782;NM_001282783;NM_001282784;NM_001282785;NM_018006;NR_104240;NR_104241;XM_005261678;XM_005261681 AAH27991;AAH80631;AAL35970;AAL38183;ABC46690;ABC46691;ABC46692;BAA91462;BAD66875;BAF83401;BAG58183;BAG64147;CAG30331;CAK54474;CAK54773;EAW73422;EAW73423;EAW73424;EAW73425;EAW73426;NP_001269711;NP_001269712;NP_001269713;NP_001269714;NP_060476;O75648;XP_005261735;XP_005261738 Hs.439524 1698800 RH102963 MGC99627;MTO2;MTU1;TRMT;TRMT1;TRNT1 MTO2 homolog;OTTHUMP00000197329;OTTHUMP00000197504;mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase;mitochondrial tRNA-specific 2-thiouridylase 1;trna (5-methylaminomethyl-2-thiouridylate)-methyltransferase 1 APPROVED protein-coding ENSG00000100416 HGNC:25481 15571 580000;610230;613070 REVIEWED 2300869 TRN-GTT11-1 transfer RNA-Asn (GTT) 11-1 1;MT 144301611 144301684 + 18984615 100189108 BX248398;HG983646 TRNAN13 APPROVED trna HGNC:34669 2300621 TRN-GTT12-1 transfer RNA-Asn (GTT) 12-1 1;MT 1 149326272 149326345 - 143831708 143831781 - 18984615 100189356 ABBA01012012;AC239798;CR812485;HG983648 TRNAN29 APPROVED trna HGNC:34924 MODEL 2300720 TRN-GTT11-2 transfer RNA-Asn (GTT) 11-2 1;MT 1 149615617 149615690 - 149646451 149646524 - 18984615 100189257 ABBA01016531;AC241377;AC243772;AL358813;HG983647 TRNAN22 APPROVED trna HGNC:34820 MODEL 2300794 TRN-GTT13-1 transfer RNA-Asn (GTT) 13-1 1;MT 1 17201958 17202031 + 16875463 16875536 + 18984615 100189183 ABBA01000252;AMYH02000387;BX284668;HG983649 TRNAN18 APPROVED trna HGNC:34746 MODEL 2300981 TRN-GTT14-1 transfer RNA-Asn (GTT) 14-1 MT 1 1 18984615 100188996 AL592284;HG983650 TRNAN4 APPROVED trna HGNC:34553 2300744 TRN-GTT15-1 transfer RNA-Asn (GTT) 15-1 MT 1 1 18984615 100189233 AL356957;HG983651 TRNAN21 APPROVED trna HGNC:34796 2300908 TRN-GTT16-1 transfer RNA-Asn (GTT) 16-1 MT 1 1 18984615 100189069 BX284650;HG983652 TRNAN9 APPROVED trna HGNC:34628 2300706 TRN-GTT16-2 transfer RNA-Asn (GTT) 16-2 MT 1 1 18984615 100189271 BX248398;HG983653 TRNAN24 APPROVED trna HGNC:34834 2300898 TRN-GTT16-3 transfer RNA-Asn (GTT) 16-3 MT 1 1 18984615 100189079 AL592284;HG983654 TRNAN10 APPROVED trna HGNC:34639 2300812 TRN-GTT16-4 transfer RNA-Asn (GTT) 16-4 MT 1 1 18984615 100189165 AL592207;HG983655 TRNAN16 APPROVED trna HGNC:34727 2300639 TRN-GTT16-5 transfer RNA-Asn (GTT) 16-5 MT 1 1 18984615 100189338 AL358813;HG983656 TRNAN28 APPROVED trna HGNC:34906 2300881 TRN-GTT17-1 transfer RNA-Asn (GTT) 17-1 MT 1 1 18984615 100189096 AL451067;HG983657 TRNAN12 APPROVED trna HGNC:34657 8663265 TRN-GTT18-1 transfer RNA-Asn (GTT) 18-1 MT p36.13 1 1 18984615 103456509 HG983658 trna HGNC:50799 2300596 TRN-GTT19-1 transfer RNA-Asn (GTT) 19-1 MT 1 1 18984615 100189381 AL358813;HG983659 TRNAN30 APPROVED trna HGNC:34949 735319 TRN-GTT2-1 transfer RNA-Asn (GTT) 2-1 The saturation hybridization studies of Hatlen and Attardi (1971) [PubMed 4929578] indicated a copy number of tRNA genes of 1,300 for the haploid human genome--an average of 65 gene copies for each tRNA species. These genes tend to be clustered, an arrangement that would facilitate the exchange of sequence information and enable them to evolve together.[supplied by OMIM, Sep 2009] 1;MT 1 p36.1 148248115 148248188 + 145287766 145287839 + 10202161;18984615;2757033;4929578;6783075;9632798 7214 AC245014;BX546486;HG983630;K00167 RNN;TRN;TRN1;TRNAN1 asp-, gly-, glu- and leu-trnas cluster APPROVED trna HGNC:12324 189880 MODEL 2300575 TRN-GTT2-2 transfer RNA-Asn (GTT) 2-2 1;MT 1 161397867 161397940 - 161428077 161428150 - 18984615 100189402 ABBA01016588;AC243898;AL592295;HG983631 TRNAN32 APPROVED trna HGNC:34971 MODEL 2300894 TRN-GTT2-3 transfer RNA-Asn (GTT) 2-3 10;MT 10 22518438 22518511 - 22229509 22229582 - 18984615 100189083 ABBA01034483;AL157831;AMYH02022430;HG983632 TRNAN11 APPROVED trna HGNC:34643 MODEL 2300941 TRN-GTT2-4 transfer RNA-Asn (GTT) 2-4 13;MT 13 31248101 31248174 - 30673964 30674037 - 18984615 100189036 ABBA01035692;AL138681;AMYH02027800;HG983633 TRNAN7 APPROVED trna HGNC:34595 MODEL 2300801 TRN-GTT2-5 transfer RNA-Asn (GTT) 2-5 17;MT 17 36908034 36908107 - 38751781 38751854 - 18984615 100189176 ABBA01031902;AC006449;AMYH02033364;HG983634 TRNAN17 APPROVED trna HGNC:34738 MODEL 9586211 TRN-GTT21-1 transfer RNA-Asn (GTT) 21-1 18984615 100873961 HG983661 TRNAN38 trna HGNC:38584 2300782 TRN-GTT2-6 transfer RNA-Asn (GTT) 2-6 19;MT 19 1383562 1383635 + 1383563 1383636 + 18984615 100189195 ABBA01002641;AC005329;AMYH02035148;HG983635 TRNAN20 APPROVED trna HGNC:34758 MODEL 2300711 TRN-GTT20-1 transfer RNA-Asn (GTT) 20-1 MT 1 1 18984615 100189266 AL592307;HG983660 TRNAN23 APPROVED trna HGNC:34829 2300443 TRN-GTT22-1 transfer RNA-Asn (GTT) 22-1 1 1 1 q21.2 121270664 121270737 + 149211948 149212021 - 143717292 143717365 - 18984615 100189534 ABBA01010823;AC239800;AL356957;HG983662;NG_008592 TRNAN36P APPROVED pseudo HGNC:35111 INFERRED 2300654 TRN-GTT3-1 transfer RNA-Asn (GTT) 3-1 1;MT 1 148598314 148598387 - 144419267 144419340 + 18984615 100189323 AC246785;AL954711;HG983636 TRNAN27 APPROVED trna HGNC:34890 MODEL 2300487 TRN-GTT23-1 transfer RNA-Asn (GTT) 23-1 1 1 q21.2 121109853 121109926 - 147851060 147851133 - 18984615 100189490 AC245100;AL592207;HG983663;NG_008548 TRNAN34P APPROVED pseudo HGNC:35064 INFERRED 2300850 TRN-GTT3-2 transfer RNA-Asn (GTT) 3-2 1;MT 1 148760356 148760429 - 144567515 144567588 - 18984615 100189127 AC006359;AC253578;AL592492;HG983637 TRNAN15 APPROVED trna HGNC:34689 MODEL 1604664 TRN-GTT4-1 transfer RNA-Asn (GTT) 4-1 1;MT 1 p36.13 17216172 17216245 + 16889677 16889750 + 18984615;6234206 791226 ABBA01000254;AMYH02000387;BX284668;HG983638;K01921 TRN2;TRNAN2 APPROVED trna HGNC:33197 MODEL 7247694 TRN-GTT5-1 transfer RNA-Asn (GTT) 5-1 MT 1 1 18984615;9023104 101822346 AL137802;HG983639 1688510;1733058 D1S1404;RH47790 TRNAN-GUU;TRNAN37 APPROVED trna HGNC:38582 1604663 TRN-GTT6-1 transfer RNA-Asn (GTT) 6-1 1;MT 1 q21.1 149230570 149230643 - 143735920 143735993 - 18984615;6234206 791227 ABBA01010822;AC239800;AL356957;HG983640;K01920 TRN3;TRNAN3 APPROVED trna HGNC:33198 MODEL 2300972 TRN-GTT7-1 transfer RNA-Asn (GTT) 7-1 1;MT 1 120844262 120844335 - 120844262 120844335 - 17903296;18984615;20884846;21502085;23263486 100189005 AC239811;AC253572;AL022240;HG983641 TRNAN5 APPROVED trna HGNC:34562 MODEL 2300918 TRN-GTT8-1 transfer RNA-Asn (GTT) 8-1 1;MT 1 149711798 149711871 - 149740248 149740321 - 18984615 100189059 AC243772;AL591493;HG983642 TRNAN8 APPROVED trna HGNC:34618 MODEL 2300673 TRN-GTT9-1 transfer RNA-Asn (GTT) 9-1 1;MT 145979034 145979107 - 18984615 100189304 AL356004;HG983643 TRNAN25 APPROVED trna HGNC:34870 2300784 TRN-GTT9-2 transfer RNA-Asn (GTT) 9-2 1;MT 1 147520767 147520840 - 148048516 148048589 - 18984615 100189193 ABBA01121183;AC239803;BX537254;HG983644 TRNAN19 APPROVED trna HGNC:34756 MODEL 2300736 TRNAC17 transfer RNA cysteine 17 (anticodon GCA) 100189241 AC095034 trna HGNC:34804 1346234 TRNA mitochondrially encoded tRNA alanine ASSOCIATED WITH Mitochondrial Myopathies (inferred) MT MT 5587 5655 - 5587 5655 - 8554872 16358336;16446307;19758471;22743145;22751105 4553 1675341;1690266;1793294;1794764 D17S813E;PMC20756P1;PMC55343P2;RH98513 MTTA APPROVED trna HGNC:7475 590000 2300830 TRNAG14 transfer RNA glycine 14 (anticodon CCC) 100189147 AL137798 trna HGNC:34709 2301106 TRNAI10 transfer RNA isoleucine 10 (anticodon GAU) 100189594 AC132010 trna HGNC:34743 2301105 TRNAI14 transfer RNA isoleucine 14 (anticodon GAU) 100189595 AC132010 trna HGNC:34837 2301104 TRNAI16 transfer RNA isoleucine 16 (anticodon GAU) 100189596 AC132010 trna HGNC:34872 2301103 TRNAI19 transfer RNA isoleucine 19 (anticodon GAU) 100189597 AC079036 trna HGNC:34899 2300901 TRNAK10 transfer RNA lysine 10 (anticodon CUU) 100189076 AL590440 trna HGNC:34636 2301102 TRNAI27 transfer RNA isoleucine 27 (anticodon GAU) 100189598 AC079036 trna HGNC:35002 2300434 TRNAK25 transfer RNA lysine 25 (anticodon UUU) 100189588 AC144526 trna HGNC:34843 2301107 TRNAL25 transfer RNA leucine 25 (anticodon CAA) 100189593 AL662871 trna HGNC:34844 1349805 TRNAMI2 transfer RNA methionine initiator 2 (anticodon CAU) p23-q12 6261953;6308668 7213 J00311 RNTMI2;TRM2;TRMI2 trna methionine initiator 2 trna HGNC:12323 1354339 TRNAL47P transfer RNA leucine 47 (anticodon AAG) pseudogene 6 6 6 p22.1 30052777 30052858 + 28446350 28446431 + 28478573 28478654 + 8293999 7209 ABBA01038019;AMYH02013394;L15362;NG_001204;Z98745 TRLP1 APPROVED pseudo INFERRED 2300950 TRNAN6 transfer RNA asparagine 6 (anticodon GUU) 100189027 AL137802 trna HGNC:34586 2301109 TRNAN31 transfer RNA asparagine 31 (anticodon GUU) 100189591 AL109844 trna HGNC:34968 2300574 TRNAN33 transfer RNA asparagine 33 (anticodon GUU) 100189403 AL137802 trna HGNC:34972 1347489 TRNAG1 tRNA glycine1 (anticodon CCC) MT 16545939 16546009 - 12787505;19546379;2989090 7195 AC244454;AL355149;M11273 2117047 SHGC-74281 TRG1 trna glycine (ccc) 1 APPROVED trna 189911 MODEL 1352392 TRNAE2 transfer RNA glutamic acid 2 (anticodon UUC) q21-q22 2251139 7194 AL355149;X54483 TRE2;TREL1 trna glutamic acid-like 1 trna HGNC:12267 2301108 TRNAQ4 transfer RNA glutamine 4 (anticodon CUG) 100189592 AC026900 trna HGNC:34565 2300435 TRNAR13 transfer RNA arginine 13 (anticodon CCG) 100189587 AC134407 trna HGNC:34672 2300954 TRNAV13 transfer RNA valine 13 (anticodon CAC) 100189023 AL137798 trna HGNC:34582 1350292 TRNC mitochondrially encoded tRNA cysteine ASSOCIATED WITH MELAS Syndrome (inferred) MT MT 5761 5826 - 5761 5826 - 8554872 19758471;20301403;20301411 4511 1675341;1690266;1736692;1793294;1793298;1794764 D17S813E;D1S2077E;PMC20756P1;PMC20756P3;PMC55343P2;RH98513 MTTC APPROVED trna HGNC:7477 590020 1353650 TRND mitochondrially encoded tRNA aspartic acid MT MT 7518 7585 + 7518 7585 + 19050702;19535463 4555 1675341;1690266;1736692;1793110;1793294;1793298;1794764;1794766 D17S813E;D1S2077E;PMC196577P3;PMC20756P1;PMC20756P3;PMC55343P2;PMC55343P3;RH98513 MTTD APPROVED trna HGNC:7478 590015 1343599 TRNE mitochondrially encoded tRNA glutamic acid ASSOCIATED WITH Breast Cancer, Familial (inferred); MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT (inferred); Noninsulin-dependent diabetes mellitus with deafness (inferred) MT MT 14674 14742 - 14674 14742 - 8554872 15286228;16331560;16414144;17161635;20045353 4556 1735490;1736674;1744315 D1S2076E;D5S1608E;GDB:451664 MTTE APPROVED trna HGNC:7479 590025 2300456 TRNAR33P transfer RNA arginine 33 (anticodon CCU) pseudogene 1 1 q21.1 120877507 120877577 - 145941579 145941649 + 100189521 AL356004;NG_008579 pseudo HGNC:35096 INFERRED 733380 TRNAU1AP tRNA selenocysteine 1 associated protein 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN selenocysteine incorporation (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH disodium selenite; methyl methanesulfonate; paracetamol 1 1 1 p35.3 27275295 27300823 + 28879529 28905057 + 28553017 28578545 + 6480464 10606267;12477932;14702039;16230358;16508009;21145461;21906983;21987572;22505724;24250222;24816145 54952 Q9NX07;Q9UHT1 ABBA01035037;ABBA01035038;ABBA01035039;ABBA01035040;ABBA01035041;ABBA01035042;ABBA01035043;AF118082;AK000510;AK023555;AK300162;AK309481;AL513497;AMYH02000631;AMYH02000632;BC000680;BC035855;BC039879;BI602122;BQ014404;CH471059;NM_017846;NR_003109 AAF22026;AAH00680;AAH39879;BAA91217;BAH13226;EAX07687;EAX07688;EAX07689;NP_060316;Q9NX07 Hs.533626 2170099;5022578 D1S1423;SHGC-74458 FLJ20503;PRO1902;RP4-669K10.4;SECP43;TRSPAP1 OTTHUMP00000003783;tRNA selenocysteine 1-associated protein 1;tRNA selenocysteine associated protein (SECP43);tRNA selenocysteine associated protein 1;tRNA selenocysteine-associated protein 1 protein-coding ENSG00000180098 HGNC:30813 18035 VALIDATED 1346568 TRNF mitochondrially encoded tRNA phenylalanine ASSOCIATED WITH MELAS Syndrome (inferred); MERRF Syndrome (inferred) MT MT 577 647 + 577 647 + 8554872 14659412;19758471;20142618;20301403;20301411 4558 APPROVED trna HGNC:7481 590070 1346891 TRNG mitochondrially encoded tRNA glycine ASSOCIATED WITH Cardiomyopathy, Hypertrophic, Familial (inferred); Death, Sudden (inferred) MT MT 9991 10058 + 9991 10058 + 8554872 12138308;16784756;19050702;19376484;19758471 4563 1794768;1794770;1794772;2182028;5023545;5094682 PMC55343P4;PMC55343P5;PMC55343P6;PMC55343P7;PMC55343P8;SHGC-57364 MTTG APPROVED trna HGNC:7486 590035 1350503 TRNH mitochondrially encoded tRNA histidine ASSOCIATED WITH Deafness, Sensorineural, Autosomal-Mitochondrial Type (inferred); MERRF/MELAS Overlap Syndrome (inferred); Pigmentary retinopathy and sensorineural deafness (inferred) MT MT 12138 12206 + 12138 12206 + 19758471;24920829 4564 MTTH APPROVED trna HGNC:7487 590040 1347704 TRNL tRNA asparagine-like 7215 HGNC:12325 1344906 TRNI mitochondrially encoded tRNA isoleucine ASSOCIATED WITH Abnormalities, Multiple (inferred); Cardiomyopathy, Familial Hypertrophic, 1 (inferred); Deafness, Sensorineural, Autosomal-Mitochondrial Type (inferred) MT MT 4263 4331 + 4263 4331 + 8554872 15498972;16734181;17965958;18043288;21292040;21454794;21982779;23395828;25056089 4565 1736630;1794558;1794762;2164672 D17S1473E;NIB250;PMC31832P1;PMC55343P1 MTTI APPROVED trna HGNC:7488 590045 1344944 TRNL2 mitochondrially encoded tRNA leucine 2 (CUN) ASSOCIATED WITH Cardiomyopathy, mitochondrial (inferred); Mitochondrial Encephalomyopathies (inferred); Mitochondrial Myopathies (inferred) MT MT 12266 12336 + 12266 12336 + 8554872 15931342;17886251;18603265;18709563;19050702;19199242;19920115;20064630;20111055;20538375;22094595 4568 MTTL2 APPROVED trna HGNC:7491 590055 1349819 TRNK mitochondrially encoded tRNA lysine ASSOCIATED WITH Leigh Disease (inferred); MERRF Syndrome (inferred); MERRF/MELAS Overlap Syndrome (inferred) MT MT 8295 8364 + 8295 8364 + 8554872 14748908;16645216;16810691;17293137;17300808;17410322;17619138;18636170;19066432;19253012;19266142;19278689;19758471;20301403;20301411;20301693;20610441;2112427;2124116;22227389;22681518;22743145 4566 1675341;1690266;1736692;1791392;1793110;1793294;1793296;1793298;1794764;1794766;1794768;2182028 D17S813E;D1S2077E;PMC109173P1;PMC196577P3;PMC20756P1;PMC20756P2;PMC20756P3;PMC55343P2;PMC55343P3;PMC55343P4;RH98513;SHGC-57364 MTTK APPROVED trna HGNC:7489 590060 1350636 TRNM mitochondrially encoded tRNA methionine ASSOCIATED WITH Mitochondrial Myopathies (inferred) MT MT 4402 4469 + 4402 4469 + 8554872 15872185;18701880;18927116;19546379;19758471;21168417;21694735;23563319 4569 1736630;1794558;1794762;2164672 D17S1473E;NIB250;PMC31832P1;PMC55343P1 MTTM APPROVED trna HGNC:7492 590065 1343329 TRNN mitochondrially encoded tRNA asparagine ASSOCIATED WITH Cytochrome-c Oxidase Deficiency (inferred); Mitochondrial complex I deficiency (inferred) MT MT 5657 5729 - 5657 5729 - 8554872 19050702;19758471 4570 1675341;1690266;1793294;1793298;1794764 D17S813E;PMC20756P1;PMC20756P3;PMC55343P2;RH98513 MTTN APPROVED trna HGNC:7493 590010 1347007 TRNP mitochondrially encoded tRNA proline ASSOCIATED WITH MERRF Syndrome (inferred); Muscular Diseases (inferred); Parkinson Disease (inferred) MT MT 15956 16023 - 15956 16023 - 8554872 19077432;19758471 4571 1736674 D1S2076E MTTP APPROVED trna HGNC:7494 590075 1351977 TRNQ mitochondrially encoded tRNA glutamine ASSOCIATED WITH MELAS Syndrome (inferred); Muscular Diseases (inferred) MT MT 4329 4400 - 4329 4400 - 8554872 16759180;17174475;18701880;19050702;19758471;20301403;20301411 4572 1791530;1794762 PMC113853P1;PMC55343P1 MTTQ APPROVED trna HGNC:7495 590030 1343129 TRNR mitochondrially encoded tRNA arginine ASSOCIATED WITH Mitochondrial Encephalomyopathies (inferred) MT MT 10405 10469 + 10405 10469 + 8554872 11807892;15286228;19050702;19758471;22781096 4573 1794772;5023545;5094682 PMC55343P6;PMC55343P7;PMC55343P8 MTTR APPROVED trna HGNC:7496 590005 1601688 TRNP1 TMF1-regulated nuclear protein 1 ENCODES a protein that exhibits DNA binding (ortholog); INVOLVED IN cerebellar cortex morphogenesis (ortholog); neural precursor cell proliferation (ortholog); regulation of cell cycle (ortholog); FOUND IN nuclear euchromatin (ortholog); nucleus (ortholog); INTERACTS WITH (S)-nicotine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 1 1 1 p36.11 25717284 25724466 + 27320189 27327377 + 26993698 27000886 + 6480464 12477932;16792503;23622239 388610 H0YES3;Q6NT89 ABBA01034944;AI366714;AL356390;AMYH02000585;BC069216;CH471059;CK904126;NM_001013642;XM_005245867 AAH69216;EAX07778;NP_001013664;Q6NT89;XP_005245924 Hs.355747 C1orf225;TNRP OTTHUMP00000224888;OTTHUMP00000230495;TMF regulated nuclear protein;TMF-regulated nuclear protein 1 protein-coding ENSG00000253368 HGNC:34348 18384 VALIDATED 1344420 TRNS2 mitochondrially encoded tRNA serine 2 (AGU/C) ASSOCIATED WITH MERRF/MELAS Overlap Syndrome (inferred); Usher Syndromes (inferred) MT MT 12207 12265 + 12207 12265 + 8554872 12045211;19758471;20301403;20301411;22378285 4575 MTTS2 APPROVED trna HGNC:7498 590085 1353707 TRNL1 mitochondrially encoded tRNA leucine 1 (UUA/G) ASSOCIATED WITH Cardiomyopathies MT MT 3230 3304 + 3230 3304 + 1580746;8554872 7906985 11145497;11587074;11733107;12100083;12133550;12150714;12151350;12207935;12453978;12581800;12590018;12663619;12772452;12906157;14571278;14648149;14680844;15079803;15126296;15181978;15223991;15351082;15477592;15660201;15782498;16331560;16414144;16645209;16645216;16884381;17035175;17130166;17130528;17172609;17198195;17300808;17336924;17357124;17619138;17684616;17823937;18279408;18456717;18462486;18636170;18674747;18701018;18753147;18955007;19066432;19344718;19350514;19382419;19470628;19722047;19758471;19778529;20064630;20111055;20301403;20301411;20610441;21453644;22403016;22747555;22781753;23056349;23196335;23243073;23355809;23806424 4567 1735226;1794558;2164672 D3S2893E;NIB250;PMC31832P1 MTTL1 APPROVED trna HGNC:7490 590050 1347226 TRNS1 mitochondrially encoded tRNA serine 1 (UCN) ASSOCIATED WITH Cytochrome-c Oxidase Deficiency (inferred); Deafness, Aminoglycoside-Induced (inferred); Deafness, Sensorineural, Autosomal-Mitochondrial Type (inferred) MT MT 7446 7514 - 7446 7514 - 8554872 12820379;15210164;15482956;16406239;16470309;17659260;17894844;18028453;18636170;18790089;18988928;19027966;19371214;19527772;19558834;19705751;19744334;19758471;19920115;20064630;20301403;20301411;20301595;20301607;20668687;20722495;20812880;22453297 4574 1675341;1690266;1736692;1791392;1793110;1793294;1793296;1793298;1794766;1794768;1794770;1794772;2182028;5023545;5094682 D17S813E;D1S2077E;PMC109173P1;PMC196577P3;PMC20756P1;PMC20756P2;PMC20756P3;PMC55343P3;PMC55343P4;PMC55343P5;PMC55343P6;PMC55343P7;PMC55343P8;RH98513;SHGC-57364 MTTS1 APPROVED trna HGNC:7497 590080 1351359 TRNT mitochondrially encoded tRNA threonine ASSOCIATED WITH Breast Cancer, Familial (inferred); Ovarian Neoplasms (inferred); Parkinson Disease (inferred) MT MT 15888 15953 + 15888 15953 + 8554872 14680844;19050702;20301403;21983721 4576 1735490;1736674;1744315;5094680 D1S2076E;D5S1608E;GDB:451664;PMC55343P12 MTTT APPROVED trna HGNC:7499 590090 1350675 TRNV mitochondrially encoded tRNA valine ASSOCIATED WITH Leigh Disease (inferred) MT MT 1602 1670 + 1602 1670 + 8554872 15320572;18400783;19758471;20301403;20301411 4577 MTTV APPROVED trna HGNC:7500 590105 1348937 TRNY mitochondrially encoded tRNA tyrosine ASSOCIATED WITH Ophthalmoplegia, Chronic Progressive External (inferred) MT MT 5826 5891 - 5826 5891 - 8554872 19758471 4579 1675341;1690266;1736692;1793294;1793298;1794764 D17S813E;D1S2077E;PMC20756P1;PMC20756P3;PMC55343P2;RH98513 MTTY APPROVED trna HGNC:7502 590100 1318871 TRNT1 tRNA nucleotidyl transferase, CCA-adding, 1 The CCA-adding enzyme TRNT1 (EC 2.7.7.25) is an essential enzyme that catalyzes the addition of the CCA terminus to the 3-prime end of tRNA precursors. This reaction is a fundamental prerequisite for mature tRNAs to become aminoacylated and to participate in protein biosynthesis (Lizano et al., 2007 [PubMed 17204286]).[supplied by OMIM, Aug 2009] 3 3 3 p25.1 3107764 3129901 + 3168600 3190919 + 3126916 3149235 + 1580863;6480464;7240710 10810093;11076863;11230166;11256614;11504732;11727826;12477932;12729736;15489334;15489336;16344560;16381901;17204286;18029348;18575231;20877624;21890473;22863883;22939629;23000965;24816145 51095 C9JRS7;F8W8C3;Q96Q11 AB063105;ABBA01020485;AC024060;AF151805;AK290411;AL834397;AMYH02006159;BC005184;BC012537;BQ722111;CH471055;DA884423;DB032432;DB525237;NM_182916;XM_005265196 AAD34042;AAH05184;AAH12537;ACE86917;ACE87604;BAB70662;BAF83100;CAD39059;CAL37547;CAL38138;EAW63885;EAW63886;EAW63887;EAW63888;EAW63889;NP_886552;Q96Q11;XP_005265253 Hs.732725 1674650;1698148;1704374;2123258;2126731;2127565;2142165 D3S2777E;G29151;RH102607;RH46495;SHGC-34652;SHGC-79700;WI-20982 CCA1;CGI-47;MtCCA CCA tRNA nucleotidyltransferase 1, mitochondrial;OTTHUMP00000195199;OTTHUMP00000206931;OTTHUMP00000207297;mitochondrial CCA-adding tRNA-nucleotidyltransferase;mitochondrial tRNA nucleotidyl transferase, CCA-adding;mt CCA-adding enzyme;mt tRNA CCA-diphosphorylase;mt tRNA CCA-pyrophosphorylase;mt tRNA adenylyltransferase;tRNA-nucleotidyltransferase 1, mitochondrial APPROVED protein-coding ENSG00000072756 HGNC:17341 18227 580000;612907;613070 VALIDATED 1354011 TRNW mitochondrially encoded tRNA tryptophan ASSOCIATED WITH Leigh Disease (inferred); Mitochondrial Encephalomyopathies (inferred); Mitochondrial Myopathies (inferred) MT MT 5512 5579 + 5512 5579 + 8554872 19349200;19758471;20301403;20301411 4578 1736630;1791530;1794762 D17S1473E;PMC113853P1;PMC55343P1 MTTW APPROVED trna HGNC:7501 590095 2300957 TRP-AGG1-1 transfer RNA-Pro (AGG) 1-1 16;MT 16 3241989 3242060 + 3191989 3192060 + 18984615 100189020 ABBA01026730;AJ003147;AMYH02031284;HG983977 TRNAP5 APPROVED trna HGNC:34579 MODEL 2300958 TRP-AGG2-1 transfer RNA-Pro (AGG) 2-1 1;MT 1 167684725 167684796 - 167715488 167715559 - 18984615 100189019 ABBA01047242;AL356532;AMYH02002093;HG983978 TRNAP4 APPROVED trna HGNC:34578 MODEL 1344158 TRP-AGG2-3 transfer RNA-Pro (AGG) 2-3 14;MT 14 q11.1 21077495 21077566 - 20609336 20609407 - 11223103;1301157;1377597;1686015;18984615;3472707;3557125;7219534 7217 ABBA01061233;AL163195;AMYH02028825;HG983980;M15274 TRNAP1;TRNP1;TRP1 trna proline 1 APPROVED trna HGNC:12330 189930 MODEL 1312904 TROVE2 TROVE domain family, member 2 ENCODES a protein that exhibits metal ion binding (inferred); RNA binding (inferred); U2 snRNA binding (inferred); INVOLVED IN cilium morphogenesis (inferred); immune system development (inferred); response to UV (inferred); PARTICIPATES IN systemic lupus erythematosus pathway; FOUND IN cytoplasm; nucleus; ribonucleoprotein complex; INTERACTS WITH 2-methylcholine; crotonaldehyde; elemental selenium 1 1 1 q31 166138163 166170512 + 193028552 193060907 + 193059422 193091777 + 1580863;6480464;6907045 10545525;10785401;11251884;12096904;12102760;12477932;15489334;15928345;15964842;16344560;16710414;1689160;17289661;17353931;17552056;18029348;18056422;1833722;19248095;1999763;20089705;20131295;20224770;20237496;21060685;21139048;21145461;21890473;21906983;21963094;22114317;22863883;22939629;23000965;23349634;23644453;23698747;25015289;2649513;3200833;3926904;6201849;6421292;7602431;7829096;8188321 6738 D6RDN1;D6RE09;G5E9R9;H0Y9N5;P10155 ABBA01027636;AI433657;AK314594;AL136370;AMYH02002381;AY205314;AY205315;BC036658;BI560207;BQ227323;BX394323;CH471067;CR936683;CX761715;DA518443;J04137;M25077;NM_001042369;NM_001042370;NM_001173524;NM_001173525;NM_004600;NR_033393;S57803;S57805;U44388;XM_006711495;XM_006711496;XM_006711497 AAA35493;AAA35532;AAB81552;AAB81553;AAH36658;AAO47001;AAO47002;ABM82452;ABM85642;BAG37166;EAW91239;EAW91240;EAW91241;EAW91242;EAW91243;EAW91244;EAW91245;EAW91246;EAW91247;NP_001035828;NP_001035829;NP_001166995;NP_001166996;NP_004591;P10155;XP_006711558;XP_006711559;XP_006711560 Hs.288178 1660499;1663606;1711410;1770918;1777186;2141313;5020740;5037552;5107625 D1S3172;D8S2279;G42189;L17809;RH66393;SHGC-76062;SHGC-76066;SHGC-76067;SHGC-76068 RO60;RORNP;SSA2 60 kDa SS-A/Ro ribonucleoprotein;60 kDa ribonucleoprotein Ro;OTTHUMP00000033759;OTTHUMP00000033760;OTTHUMP00000033761;OTTHUMP00000033762;OTTHUMP00000033763;OTTHUMP00000033764;Sjogren syndrome antigen A2 (60kD, ribonucleoprotein autoantigen SS-A/Ro);gastric cancer multi-drug resistance protein;sjoegren syndrome type A antigen;sjogren syndrome antigen a2 (60kda, ribonucleoprotein autoantigen ss-a/ro) protein-coding ENSG00000116747 HGNC:11313 15964 600063 VALIDATED 2300905 TRP-AGG2-2 transfer RNA-Pro (AGG) 2-2 11;MT 11 75946557 75946628 + 76235513 76235584 + 18984615 100189072 ABBA01017454;AMYH02025127;AP000785;HG983979 TRNAP6 APPROVED trna HGNC:34631 MODEL 1315734 TROAP trophinin associated protein INVOLVED IN cell adhesion (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 5-fluorouracil; all-trans-retinoic acid; benzo[a]pyrene diol epoxide I 12 12 12 q13.12 48510276 48518819 + 49716971 49725514 + 49323188 49331731 + 1580863;6480464 10026108;12049630;12477932;16964243;18218922;19060904;19322201;20360068;21906983;21963094;22792062;23602568;7758945;9560222 10024 B7Z5Q9;F8VR46;F8VVS4;F8VVT5;F8VVX4;F8VXF3;F8VXV6;F8W052;F8W130;F8W1E3;F8W1U0;Q12815 ABBA01031521;AC125611;AK296811;AK299302;AK309716;AK310709;AK315211;AMYH02026445;BC011597;BC018627;BC032583;CD366215;CH471111;DC410015;NM_001100620;NM_001278324;NM_005480;U04810;XM_006719181;XM_006719182 AAA79333;AAH11597;AAH32583;ABM81833;ABM84486;ABW03299;BAG59384;BAH12995;EAW58062;EAW58063;EAW58064;NP_001094090;NP_001265253;NP_005471;Q12815;XP_006719244;XP_006719245 Hs.524399 1662448;2162159 RH46877;RH71194 OTTHUMP00000241254;OTTHUMP00000241255;OTTHUMP00000241279;OTTHUMP00000241280;tastin;trophinin assisting protein;trophinin-assisting protein (tastin);trophinin-associated protein APPROVED protein-coding ENSG00000135451 HGNC:12327 04849 603872 VALIDATED 1342763 TRP-AGG2-4 transfer RNA-Pro (AGG) 2-4 14;MT 14 q11.2 21081560 21081631 - 20613401 20613472 - 18984615;3557125 7218 ABBA01061233;AL163195;AMYH02028825;HG983981;M15347 1783026;2135646 D6S2357;SHGC-142270 TRNAP2;TRNP1;TRP2 transfer RNA proline 2 (anticodon UGG);trna proline 2 APPROVED trna HGNC:12331 189931 MODEL 2300841 TRP-AGG2-5 transfer RNA-Pro (AGG) 2-5 16;MT 16 3232635 3232706 - 3182635 3182706 - 18984615 100189136 ABBA01026729;AJ003147;AMYH02031284;HG983982 TRNAP9 APPROVED trna HGNC:34698 MODEL 2300681 TRP-AGG2-6 transfer RNA-Pro (AGG) 2-6 16;MT 16 3239634 3239705 + 3189634 3189705 + 18984615 100189296 ABBA01026730;AJ003147;AMYH02031284;HG983983 TRNAP18 APPROVED trna HGNC:34862 MODEL 2300701 TRP-AGG2-8 transfer RNA-Pro (AGG) 2-8 7;MT 7 128423504 128423575 + 128783450 128783521 + 18984615 100189276 ABBA01057655;AC024952;AMYH02016719;HG983985 2155688 GDB:1318698 TRNAP15 APPROVED trna HGNC:34840 MODEL 2300754 TRP-AGG2-7 transfer RNA-Pro (AGG) 2-7 6;MT 6 26555498 26555569 + 26555270 26555341 + 18984615 100189223 ABBA01066558;AL121936;AMYH02013354;HG983984 2135646 D6S2357 TRNAP13 APPROVED trna HGNC:34786 MODEL 2300616 TRP-AGG3-1 transfer RNA-Pro (AGG) 3-1 MT 1 1 100189361 AC108134;HG983986 1340880;2169762 D16S676;L17727 TRNAP20 APPROVED trna HGNC:34929 2300495 TRP-AGG5-1 transfer RNA-Pro (AGG) 5-1 2 2 2 p12 77725627 77725697 + 77895593 77895663 + 77668467 77668537 + 18984615 100189482 ABBA01075645;AC084149;AMYH02004112;HG983988;NG_008540 TRNAP25P APPROVED pseudo HGNC:35055 INFERRED 2300447 TRP-AGG4-1 transfer RNA-Pro (AGG) 4-1 2 2 2 p11.2 77725627 77725697 + 87339573 87339644 + 87112450 87112521 + 18984615 100189530 AC092651;AMYH02004218;HG983987;NG_008588 TRNAP28P APPROVED pseudo HGNC:35107 INFERRED 2300501 TRP-AGG6-1 transfer RNA-Pro (AGG) 6-1 16 16 16 p13.3 3408213 3408284 - 3202609 3202680 - 3152608 3152679 - 18984615 100189476 ABBA01026729;AC108134;AMYH02031283;HG983989;NG_008534 TRNAP24P APPROVED pseudo HGNC:35049 INFERRED 2300766 TRP-CGG1-1 transfer RNA-Pro (CGG) 1-1 1;MT 1 167683962 167684033 + 167714725 167714796 + 18984615 100189211 ABBA01047242;AL356532;AMYH02002093;HG983990 TRNAP11 APPROVED trna HGNC:34774 MODEL 2300756 TRP-CGG1-2 transfer RNA-Pro (CGG) 1-2 16;MT 16 3222049 3222120 + 3172048 3172119 + 18984615 100189221 ABBA01026729;AJ003147;AMYH02031284;HG983991 TRNAP12 APPROVED trna HGNC:34784 MODEL 2300853 TRP-CGG1-3 transfer RNA-Pro (CGG) 1-3 17;MT 17 8126151 8126222 - 8222833 8222904 - 18984615 100189124 ABBA01054904;AC135178;AMYH02032923;HG983992 TRNAP8 APPROVED trna HGNC:34686 MODEL 2300805 TRP-CGG2-1 transfer RNA-Pro (CGG) 2-1 6;MT 6 27059521 27059592 + 27091742 27091813 + 18984615 100189172 ABBA01037986;AL021807;AMYH02013375;HG983993 TRNAP10 APPROVED trna HGNC:34734 MODEL 2300522 TRP-GGG1-1 transfer RNA-Pro (GGG) 1-1 10 10 10 p12.2 22540264 22540336 + 22852579 22852651 + 22563650 22563722 + 18984615 100189455 ABBA01034477;AL513128;AMYH02022438;HG983994;NG_008512 TRNAP22P APPROVED pseudo HGNC:35026 INFERRED 2300691 TRP-TGG1-1 transfer RNA-Pro (TGG) 1-1 14;MT 14 21101165 21101236 + 20633006 20633077 + 18984615 100189286 ABBA01061233;AL163195;AMYH02028825;HG983995 TRNAP17 APPROVED trna HGNC:34852 MODEL 2300753 TRP-TGG2-1 transfer RNA-Pro (TGG) 2-1 11;MT 11 75946869 75946940 - 76235825 76235896 - 18984615 100189224 AMYH02025127;AP000785;HG983996 TRNAP14 APPROVED trna HGNC:34787 MODEL 2300889 TRP-TGG3-1 transfer RNA-Pro (TGG) 3-1 14;MT 14 21152175 21152246 + 20684016 20684087 + 18984615 100189088 ABBA01061234;AL163636;AMYH02028826;HG983997 TRNAP7 APPROVED trna HGNC:34648 MODEL 2300642 TRP-TGG3-2 transfer RNA-Pro (TGG) 3-2 16;MT 16 3208923 3208994 + 3158922 3158993 + 18984615 100189335 ABBA01026729;AC108134;AMYH02031283;HG983998 TRNAP19 APPROVED trna HGNC:34903 MODEL 2300589 TRP-TGG3-3 transfer RNA-Pro (TGG) 3-3 16;MT 16 3234133 3234204 - 3184133 3184204 - 18984615 100189388 ABBA01026729;AJ003147;AMYH02031284;HG983999 TRNAP21 APPROVED trna HGNC:34956 MODEL 1346752 TRP-TGG3-5 transfer RNA-Pro (TGG) 3-5 5;MT 5 q35.3 180615854 180615925 - 181188854 181188925 - 18984615;2613239;2676726 7219 ABBA01010095;AC008443;AMYH02012917;HG984001;M27835 TRNAP3;TRP3 trna proline (ugg) 3 APPROVED trna HGNC:12332 189912 MODEL 2300696 TRP-TGG3-4 transfer RNA-Pro (TGG) 3-4 16;MT 16 3238094 3238165 + 3188094 3188165 + 18984615 100189281 ABBA01026730;AJ003147;AMYH02031284;HG984000 TRNAP16 APPROVED trna HGNC:34847 MODEL 2300494 TRP-TGG4-1 transfer RNA-Pro (TGG) 4-1 16 16 16 p13.3 3426596 3426666 - 3220961 3221031 - 3170960 3171030 - 18984615 100189483 ABBA01026729;AJ003147;AMYH02031284;HG984002;NG_008541 TRNAP26P APPROVED pseudo HGNC:35056 INFERRED 2300462 TRP-TGG5-1 transfer RNA-Pro (TGG) 5-1 1 1 1 q32.1 180429658 180429734 - 207178154 207178230 - 207004809 207004885 - 18984615 100189515 ABBA01048247;AC098935;AMYH02002558;HG984003;NG_008573 TRNAP27P APPROVED pseudo HGNC:35090 INFERRED 1605121 TRO trophinin This gene encodes a membrane protein that mediates cell adhesion between trophoblastic cells and the epithelial cells of the endometrium. The encoded protein participates in cell signalling during embryo implantation, and may also be involved in cancer formation. This gene is located near several other closely related genes on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] X X X p11.22-p11.21 58782397 58793012 + 54946996 54957864 + 54920563 54931431 + 6480464 10026108;10470851;10797941;11454705;11590179;12297480;12477932;12878157;14633596;14702039;15162511;15205339;15772651;15867431;16196087;16288751;16344560;16713569;17254769;17360433;17487845;17495530;17559068;17597582;18078818;18769125;18846386;20237496;21139048;21191175;21890473;21906983;22201876;23000965;24250222;24713374;7758945;8125298;8889548;9533028;9560222 7216 B1AKE6;B1AKE7;B1AKE8;B1AKF2;B1AKF3;B1AKF4;B1AKF5;B1AKF6;B4DK08;E7ERU6;G5E9N2;Q12816;Q9BX88;Q9BX90;Q9BX91 AB029037;ABBA01069577;ABBA01069578;AF349719;AF349720;AF349721;AF349722;AK001300;AK027489;AK027861;AK225841;AK296329;AK299568;AL049732;AMYH02039495;AU279883;BC026914;BM693634;CH471154;DA128814;DB177388;NG_012806;NM_001039705;NM_001271183;NM_001271184;NM_016157;NM_177556;NM_177557;NR_073148;NR_073149;U04811;XM_006724599;XM_006724600;XM_006724601;XM_006724602;XM_006724603;XM_006724604;XM_006724605 AAA79334;AAK30170;AAK30171;AAK30172;AAK30173;BAA83066;BAA91609;BAB55149;BAG51387;BAG59020;BAG61509;EAW93200;EAW93201;EAW93202;EAW93203;EAW93204;EAW93205;EAW93206;NP_001034794;NP_001258112;NP_001258113;NP_057241;NP_808224;NP_808225;Q12816;XP_006724662;XP_006724663;XP_006724664;XP_006724665;XP_006724666;XP_006724667;XP_006724668 Hs.633653;Hs.743294 1683970;2169541 RH48499;SHGC-31610 KIAA1114;MAGE-d3;MAGED3 MAGE superfamily protein;MAGE-D3 antigen;OTTHUMP00000023387;OTTHUMP00000180628;OTTHUMP00000180629;OTTHUMP00000180630;OTTHUMP00000180636;OTTHUMP00000210922;OTTHUMP00000210923;magphinin;melanoma antigen, family D, 3 APPROVED protein-coding ENSG00000067445 HGNC:12326 02134 300132 REVIEWED 1350987 TRPC2 transient receptor potential cation channel, subfamily C, member 2, pseudogene INTERACTS WITH cisplatin; 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 11 11 11 p15.4 3659826 3663093 + 3647690 3658789 + 3626460 3637559 + 6480464 11290752;12032305;12601176;12631698;14505576;14699131;16382100;17217050;20210993;24756702;7568191 7221 Q3C1U7 AA423920;AB231779;ABBA01032053;ABBA01032054;AC060812;AMYH02024226;NR_002720;X89067 BAE46900 Hs.131910;Hs.690732 1792502;1792504;1793414 PMC152292P2;PMC152292P3;PMC21939P1 APPROVED pseudo ENSG00000182048 HGNC:12334 VALIDATED 1344231 TRPA1 transient receptor potential cation channel, subfamily A, member 1 The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008] 8 8 8 q13 68932963 68987289 - 72933486 72987819 - 72021251 72075584 - 1580863;6480464;8699517;7240710;8554872 10066796;14712238;16382100;16500080;17164327;17217068;17285310;17571167;18384850;18440147;18456404;18463259;18499726;18671867;18769139;18775987;18954467;18988737;19059884;19074743;19159452;19211797;19237591;19282836;19369549;19507004;19507192;19715741;20190512;20194132;20457836;20547126;20946100;21037510;21094256;21112285;21133676;21168271;21195050;21419293;21719896;21848366;21930928;21962912;21981454;21993194;22222967;22426997;22458587;22461626;22665484;22740698;22843691;22863862;22905134;23133611;23219522;23345429;23415228;23478802;23508958;23558672;23707266;23709225;23994313;23994502;24002057;24037916;24071625;24084605;24140646;24206072;24275229;24944203;9511734 8989 H0YAW0;O75762 ABBA01041953;AC016057;AC022867;AK307942;AMYH02018190;AMYH02018191;CH471068;NG_033890;NM_007332;Y10601 AAI48424;AAI53004;CAA71610;EAW86986;NP_015628;O75762 Hs.716816 1335415;1753635;2125136;2151457;7184458 D8S2094;D8S279;SHGC-107525;STS-N34377 ANKTM1;FEPS OTTHUMP00000226878;OTTHUMP00000226879;ankyrin-like with transmembrane domains 1;ankyrin-like with transmembrane domains protein 1;transformation-sensitive protein p120;transient receptor potential cation channel subfamily A member 1 APPROVED protein-coding ENSG00000104321 HGNC:497 09208 604775;615040 REVIEWED 733864 TRPC3 transient receptor potential cation channel, subfamily C, member 3 The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 4 4 4 q27 120186020 120258701 - 122800183 122872909 - 121879028 121951754 - 724705;1580490;1580863;6480464;7247603 15358862;19887786;8646775 10611319;11290752;11524429;11943785;12032305;12356946;12377790;12477932;12606542;12700192;12730194;12736151;12736256;12857742;12970363;14505576;14736881;14983059;15104175;15199065;15271991;15327778;15489334;15623527;15647288;15654973;15728370;15744307;15757897;15766521;15834157;15972814;16331690;16382100;16407161;16448384;16484216;16529812;16537542;17023658;17217051;17258231;17360584;17569672;17967814;18177730;18215135;18262493;18276585;18431718;18436303;18478545;18602918;18700317;18755685;18787184;19032951;19043047;19052171;19074769;19136933;19151765;19168035;19260825;19287093;19417689;19447651;19464259;19749484;19812035;20179100;20190511;20190513;20190514;20360250;20677014;20728215;21215279;21321808;21603869;21757714;21802402;21931279;21957871;22207762;22306362;22438881;22566418;22566504;22960861;23580589;23682725;23776229;23800762;23899746;23938296;24453217;7568191;9215637;9368034;9417057;9535843;9853757;9930701 7222 D6R902;D6RC49;J3QTB0;Q13507 AB255423;AB255424;ABBA01044732;AC079341;AC108930;AMYH02010013;AMYH02010014;AY865574;BC093682;BC093684;BC143239;CH471056;CS105827;KC207570;NG_030368;NM_001130698;NM_003305;X89068;XM_006714295;XM_006714296;Y13758 AAH93682;AAH93684;AAW62292;AAY40971;AGG20159;BAF76423;BAF76424;CAA61448;CAA74083;CAJ01297;EAX05243;NP_001124170;NP_003296;Q13507;XP_006714358;XP_006714359 Hs.150981 1665705;1765617;2143521;2148321 D4S956;G01966;SHGC-149065;SHGC-51334 TRP-3;TRP3;hTrp-3;hTrp3 OTTHUMP00000164084;OTTHUMP00000219929;OTTHUMP00000219991;short transient receptor potential channel 3;transient receptor potential cation channel subfamily C member 3 variant c;transient receptor potential channel 3;transient receptor protein 3 APPROVED protein-coding ENSG00000138741 HGNC:12335 15999 602345 REVIEWED 734058 TRPC1 transient receptor potential cation channel, subfamily C, member 1 The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 3 3 3 q23 140866763 140950233 + 142443266 142526730 + 142724424 142807888 + 1580863;2301838;6480464;6907045;7247596;7247605;8554872 18184923;19439599;20337661 10097141;10766822;10970773;10980191;11139478;11290752;11301024;11336651;11983166;12032305;12060571;12193412;12196544;12356946;12477932;12732636;12736151;12766172;12857742;14505576;14530267;14614461;14706284;14707123;15016832;15105836;15188402;15220115;15347566;15542611;15623527;15654973;15757897;15763245;15834157;15972814;16283206;16344560;16382100;16527499;16529812;16551274;16709572;16822931;16870612;16899508;17217049;17224452;17233611;17289052;17348017;17850866;17892531;17920677;17957383;18172497;18249094;18261457;18326500;18420269;18430726;18436303;18506892;18542994;18546016;18644792;18802022;18802326;18843204;18990707;18995841;19052258;19168436;19193631;19228695;19307462;19322201;19446005;19471101;19701773;19725137;19749483;19850920;19875453;19897728;19913121;19945390;20032510;20093626;20187291;20194530;20458742;20515740;20544850;20628086;21408196;21506118;21640715;21747233;21749700;22157757;22367186;22446186;22451676;22474110;22592407;22668831;22687694;22744003;22932896;23049826;23077641;23079337;23115638;23203809;23261316;23544998;23549783;23784143;24250222;24953315;7568191;7589464;8646775;8663995;9215637 7220 H7C508;P48995 AB255425;ABBA01059022;AC022291;AC072028;AF483645;AI280444;AMYH02007823;BC112338;BC113953;BX331349;CH471052;CS105825;DB185459;EF522961;GQ293239;NG_030369;NM_001251845;NM_003304;X89066;XM_005247738;XM_005247739;XM_005247740;XR_241506 AAI12339;AAI13954;AAM97860;ABP94017;ACT66710;BAF76425;CAA61447;CAJ01296;EAW78963;EAW78964;NP_001238774;NP_003295;P48995;XP_005247795;XP_005247796;XP_005247797 Hs.250687;Hs.684389 1661155;1712222;1735248;1797194;1851117;2130877;2177742 Cda01f07;D3S2912E;G54018;RH46321;RH79185;SHGC-36812;TRPC1 HTRP-1;MGC133334;MGC133335;TRP-1;TRP1 OTTHUMP00000214760;OTTHUMP00000214787;capacitative calcium channel protein Trp1;short transient receptor potential channel 1;transient receptor potential canonical 1;transient receptor potential channel 1;transient receptor protein 1 APPROVED protein-coding ENSG00000144935 HGNC:12333 11894 602343 REVIEWED 733150 TRPC4 transient receptor potential cation channel, subfamily C, member 4 This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] 13 13 13 q13.3 19264388 19497682 - 38210773 38443939 - 37636636 37869802 - 724705;1580863;6480464;8554872 8646775 10816590;10980202;11042129;11163362;11290752;11713258;11830588;12032305;12154080;12356946;12477932;12736151;12857742;14505576;15146197;15358862;15540229;15757897;16033767;16144838;16254212;16344560;16382100;16527499;17031666;17074721;17081983;17110928;17217052;17920677;18021253;18048348;18976975;19059308;19307462;19725137;19996314;20164195;20379614;20458742;20468064;20574736;21427121;22457348;23251661;23326517;23549783;23677990;24563462 7223 Q3KR50;Q3MHB9;Q9UBN4 ABBA01021330;ABBA01021331;AF063822;AF063823;AF063824;AF063825;AF175406;AF421358;AF421359;AF421360;AF421361;AF421362;AK312524;AL138679;AL354802;AL356495;AMYH02027884;AMYH02027885;BC104725;BC105306;BC105641;BC105917;BX648312;CH471075;CN364204;DB258184;DB278337;DB308366;NG_029849;NM_001135955;NM_001135956;NM_001135957;NM_001135958;NM_003306;NM_016179;U40983 AAC50630;AAD51736;AAF22927;AAF22928;AAF22929;AAF22930;AAI04726;AAI05307;AAI05642;AAI05918;AAL24549;AAL24550;AAL24551;AAL24552;AAL24553;BAG35423;EAX08595;EAX08596;EAX08597;EAX08598;EAX08599;EAX08600;EAX08601;NP_001129427;NP_001129428;NP_001129429;NP_001129430;NP_003297;NP_057263;Q9UBN4 Hs.262960 1707900;1757697;2108609;2111760 D13S1648;SHGC-146298;SHGC-82198;TRPC4_8690 HTRP-4;HTRP4;MGC119570;MGC119571;MGC119572;MGC119573;TRP4 OTTHUMP00000018272;OTTHUMP00000018273;OTTHUMP00000018274;OTTHUMP00000018275;OTTHUMP00000018277;short transient receptor potential channel 4;transient receptor potential 4;transient receptor protein 4;trp-related protein 4 APPROVED protein-coding ENSG00000133107 HGNC:12336 09154 603651 REVIEWED 5144676 TRPC5OS TRPC5 opposite strand DISCONTINUED: There is no evidence to support this locus. X X 111119279 111147218 + 111876051 111903990 + 11181995;12477932;15489334;15772651;16344560 100329135 A6NMA1 ABBA01043243;ABBA01043244;ABBA01043245;ABBA01043246;AC005191;AMYH02040240;BC034811;BF510645;CH471120;DB076612;DB096871;DB458957;HG512656;NM_001195576;NM_001195577;NM_001195578 A6NMA1;EAX02631;NP_001182505;NP_001182506;NP_001182507 Hs.247868;Hs.745438 1699932 RH103574 RP1-269O5.2;TRPC5-AS1 TRPC5 antisense RNA 1 (non-protein coding);TRPC5-antisense RNA 1;putative uncharacterized protein TRPC5OS;uncharacterized protein LOC100288395 APPROVED protein-coding HGNC:40593 VALIDATED 6481369 TRPC7-AS1 TRPC7 antisense RNA 1 q31.1 100874024 AC008661;BE218103 APPROVED ncrna HGNC:40936 1604862 TRPC6P transient receptor potential cation channel, subfamily C, member 6 pseudogene X X;Y X;Y q28;Yq12 155187935 155189021 - 59318017 59318918 - 57171866 57172767 - 644218 ABBA01028635;AJ271736;AMYH02040904;NG_005687 TRPC6L pseudo HGNC:23270 INFERRED 1320513 TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein ENCODES a protein that exhibits phosphatase binding; INVOLVED IN protein ubiquitination; ubiquitin-dependent protein catabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN Cul4A-RING E3 ubiquitin ligase complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; disodium selenite; potassium chromate 20 20 20 q11.22 30339293 30429447 - 33590207 33680618 - 35002404 35092815 - 6480464;8554872 11133832;11532960;11780052;12047747;12477932;12693554;14585990;15489334;16730941;16876162;16964240;18449908;18781797;19059308;19389623;20360068;20458742;20551172;21139048;21145461;21890473;21900206;21906983;21963094;21987572;22505724;22703881;23000965;8619474;8889548;9110174 26133 B4DW48;B4E0Q1;Q8TEL6 ABBA01019171;ABBA01019172;AF055022;AK074106;AK298958;AK301368;AK303476;AK315582;AL096738;AL117480;AL132825;AMYH02036988;BC001323;BC008836;BC013144;BI488542;BM149369;BM723903;CF125531;CH471077;NM_015638;NM_199368 AAH01323;AAH08836;AAH13144;ADZ15551;BAB84932;BAG37955;BAG61054;BAG62910;BAG64513;CAB55953;EAW76229;EAW76230;EAW76231;EAW76232;EAW76233;EAW76234;EAW76235;NP_056453;NP_955400;Q8TEL6 Hs.168073 1646419;1654381;1712294;1774695;2114939;2130007;2146961;2171544;2186683 D18S1331;D20S545E;D20S786;D20S814;G54056;RH15946;RH66097;SHGC-32905;Z94466 C20orf188;PPP1R158;TRRP4AP;TRUSS OTTHUMP00000030719;TNF-receptor ubiquitous scaffolding/signaling protein;TRP4-associated protein;short transient receptor potential channel 4 associated protein;short transient receptor potential channel 4-associated protein;trpc4-associated protein;tumor necrosis factor receptor-associated ubiquitous scaffolding and signaling protein protein-coding ENSG00000100991 HGNC:16181 09238 608430 VALIDATED 1349355 TRPC7 transient receptor potential cation channel, subfamily C, member 7 ENCODES a protein that exhibits calcium channel activity (inferred); INVOLVED IN axon guidance (inferred); blood coagulation (inferred); calcium ion transmembrane transport (inferred); FOUND IN integral component of membrane (inferred); nucleus (inferred); perinuclear region of cytoplasm (inferred); INTERACTS WITH prostaglandin E2; 17beta-estradiol (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 5 5 5 q31.1 131673736 131825919 - 135548458 135701164 - 136212770 136365476 - 1580863;6480464 11290752;11805119;12032305;12477932;15342342;15757897;15972814;16123040;16382100;16741513;17217055;18021175;19240791;19812035;20379614;21402151 57113 H0Y2U3;H0Y3E4;H0Y8N3;H0Y9S0;H0YAE7;Q9HCX4 ABBA01068717;ABBA01068718;ABBA01068719;AC008661;AJ272034;AJ421783;AJ549088;AJ549089;AJ549090;AMYH02012261;AMYH02012262;AMYH02012263;AY167926;AY167927;BC128185;BC128186;BI826927;CH471062;DR002519;NM_001167576;NM_001167577;NM_020389;XM_005272036 AAI28186;AAI28187;AAO12124;AAO12125;CAC03489;CAD19069;CAD70161;CAD70162;CAD70163;EAW62187;EAW62188;EAW62189;EAW62190;EAW62191;EAW62192;NP_001161048;NP_001161049;NP_065122;Q9HCX4;XP_005272093 Hs.591263 1339413;1751981;1779372;2123211 D5S393;L28404;SHGC-105956;SHGC-153363 TRP-7;TRP7;hTRP7 OTTHUMP00000221120;OTTHUMP00000221122;OTTHUMP00000221124;OTTHUMP00000221125;likley ortholog of mouse transient receptor potential cation channel, subfamily C, member 7;putative capacitative calcium channel;short transient receptor potential channel 7;transient receptor protein 7 protein-coding ENSG00000069018 HGNC:20754 18228 VALIDATED 1347433 TRPC6 transient receptor potential cation channel, subfamily C, member 6 The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009] 11 11 11 q22.1 98491501 98623915 - 101322295 101454687 - 101451564 101583956 - 1580490;1580863;6480464;6484113;7240710;7247583;7247605;7247439;4891135;7247444;7247445;7247580;7247581;7247582;7247443;7247446;7247603;7247440;7247584;7247585;7247596;8554872;8699517 15358862;15879175;15924139;19439599;19887786;20337661;20554625;20811149;21511817;21839714;22673147;22980509;23043486;23212367;23385000;23435869;23535151 10368108;10611319;10816590;10998353;11290752;11988098;12032305;12351388;12356946;12377790;12477932;12531519;12564954;12736151;12765698;12766233;12857742;12871853;12970363;14505576;14662757;14688372;14699131;14702039;14761972;15023993;15362854;15489334;15623527;15757897;15998650;16034470;16382100;16439426;16527499;16690880;17081983;17116414;17197445;17217054;17317623;17360584;17684020;17699555;17719101;17850865;17872462;17957383;18209485;18258814;18436303;18495872;18506892;18617565;18784209;18800249;18818211;19052171;19074769;19124028;19129465;19260825;19380626;19394138;19414653;19443836;19458060;19610066;19701218;19701773;19749484;19843708;19936226;19940041;19961855;20028870;20190513;20203293;20306291;20346360;20346379;20395377;20533864;20540633;20554944;20705603;20728215;20835261;20961851;21471003;21487005;21525431;21734084;21757000;21757714;21799177;21822655;21864503;21980113;22000711;22004559;22306362;22493444;22554521;22566504;23158989;23291369;23497198;23525112;23566105;23570668;23636057;23645677;23663351;23671622;23686700;23689571;23700295;23814119;23938296;23976973;23999069;24397990;24418082;24453217;24598806;24942878;9925922;9930701 7225 E9PJN4;Q9Y210 ABBA01039957;AF080394;AF086426;AJ006276;AJ007018;AJ271066;AJ271067;AJ271068;AK001960;AK027769;AMYH02025465;AMYH02025466;AP003079;AP003080;BC093658;BC093660;CH471065;KF455474;KF455476;KF455477;NG_011476;NM_004621;XM_006718898 AAC63289;AAH93658;AAH93660;BAG51375;CAA06943;CAC01684;CAC01685;CAC01686;CAC06090;EAW67003;EAW67004;EAW67005;NP_004612;Q9Y210;XP_006718961 Hs.159003 1298202;1338308;1653541 D11S1986;D11S2002;SHGC-57985 FLJ11098;FLJ14863;FSGS2;TRP-6;TRP6 OTTHUMP00000236028;OTTHUMP00000236029;OTTHUMP00000236030;OTTHUMP00000236031;focal segmental glomerulosclerosis 2;short transient receptor potential channel 6;transient receptor protein 6 APPROVED protein-coding ENSG00000137672 HGNC:12338 04710 603652;603965 REVIEWED 8662535 TRPM2-AS TRPM2 antisense RNA 21 21 45834473 45845525 - 44414590 44425563 - 14702039;18957938;24931166 101928607 ABBA01074165;ABBA01074166;AK057275;AMYH02037913;AP001065;EU362988;HG511894;NR_109964 Hs.666176 TRPM2-AS1 ncrna HGNC:50758 VALIDATED 733334 TRPC5 transient receptor potential cation channel, subfamily C, member 5 This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thought to form a receptor-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including calmodulin, CABP1, enkurin, Na(+)-H+ exchange regulatory factor (NHERF ), interferon-induced GTP-binding protein (MX1), ring finger protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing protein 1 (SESTD1). [provided by RefSeq, May 2010] X X X q23 111497049 111805514 - 111017542 111326004 - 111774314 112082776 - 1580863;6480464;8554872 10493832;10980202;11290752;11301024;12032305;12477932;12531519;12736151;12766233;12857742;12858178;14505576;15647288;15757897;15763245;15772651;16284075;16368680;16382100;16950785;17217053;17233612;17884814;17925457;17981154;18172497;18495872;18665391;19247474;19701773;19815560;20164195;20378846;20390293;20458742;20811636;21127073;21139048;21734191;21980113;22025699;22457348;22490661;22668831;22988121;23121507;23677990;24117252;24582564;24733904 7224 Q59G51;Q9UL62 AB209258;ABBA01043227;ABBA01043228;ABBA01043229;ABBA01043230;ABBA01043231;ABBA01043232;ABBA01043233;ABBA01043234;ABBA01043235;ABBA01043236;ABBA01043237;ABBA01043238;ABBA01043239;ABBA01043240;ABBA01043241;ABBA01043242;ABBA01043243;ABBA01043244;ABBA01043245;ABBA01043246;ABBA01043247;ABBA01043248;ABBA01043249;ABBA01043250;ABBA01043251;ABBA01043252;ABBA01043253;ABBA01043254;ABBA01043255;AC005191;AF054568;AL031388;AL049563;AMYH02040239;AMYH02040240;BC137271;BC137274;CH471120;KF459302;KF459307;NG_021215;NM_012471 AAC24563;AAF00002;AAI37272;AAI37275;BAD92495;EAX02630;NP_036603;Q9UL62 Hs.657709 1340778;1340894;1645752;1664664;1668208;1694092;1699932;1701970;1702022;1725201;1767419;2107711;2116186;2124083;2125953;2134151;2152360;2153592;2168260;5115418;7187401 AL008924;AL021628;AL031569;AL035134;DXS1059;DXS1280;DXS1352;DXS7300;DXS7344;DXS7354;DXS7458;DXS8110;DXS8201;DXS8203;DXS8204;L77248;RH103574;RH118893;RH47107;TRPC5__5138 PPP1R159;TRP-5;TRP5;hTRP5 OTTHUMP00000023863;short transient receptor potential channel 5;transient receptor potential channel 5;transient receptor protein 5 APPROVED protein-coding ENSG00000072315 HGNC:12337 02273 300334 REVIEWED 1321629 TRPM5 transient receptor potential cation channel, subfamily M, member 5 This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010] 11 11 11 p15.5 2460552 2479085 - 2425745 2444275 - 2404515 2423402 - 1580863;6480464;8554872 10607831;10915772;12368808;12477932;14634208;14657398;15731110;16382100;17217064;19773279;20660057;21133676;21489577;23844940;23884414;24019741 29850 E9PQF7;E9PRW0;Q9NZQ8 ABBA01032091;ABBA01032092;AC124057;AF177473;AJ270996;AMYH02024191;BC093787;BC093789;BC143351;BC143353;CH471158;NM_014555;XM_005252882 AAF26288;AAH93787;AAH93789;AAI43352;AAI43354;CAB66342;EAX02514;EAX02515;EAX02516;NP_055370;Q9NZQ8;XP_005252939 Hs.272287 2107713 TRPM5_2586 LTRPC5;MTR1 LTrpC-5;MLSN1 and TRP-related;MLSN1- and TRP-related gene 1 protein;OTTHUMP00000011536;OTTHUMP00000229032;OTTHUMP00000229033;OTTHUMP00000229034;long transient receptor potential channel 5;transient receptor potential cation channel subfamily M member 5 APPROVED protein-coding ENSG00000070985 HGNC:14323 16064 604600 REVIEWED 1348019 TRPM4 transient receptor potential cation channel, subfamily M, member 4 The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010] 19 19 19 q13.33 46527963 46581978 + 49661016 49715098 + 49157759 49211841 + 1580863;6480464;7240710;8554872;8699517 11535825;12015988;12477932;12799367;12842017;14702039;14758478;15121803;15331675;15472118;15550671;15590641;15845551;16186107;16344560;16382100;16407466;16424899;16777713;16806463;17217063;17288552;18262493;19063936;19726882;19945433;20301690;20562447;20625999;20884614;21139048;21887725;21890473;21906983;23116477;23160238;23382873;23796873;24333049 54795 B4DIX5;M0QX92;M0QYK7;M0QZ19;M0R0H1;M0R3H6;Q8TD43 ABBA01032935;ABBA01032936;ABBA01032937;ABBA01032938;AC008891;AF497623;AJ575813;AK000048;AK000235;AK292862;AK295820;AK307897;AMYH02036314;AX235185;AY046396;AY297044;AY297045;AY297046;BC132727;BC144122;BC144123;BM857470;CH471177;DA218254;KF456595;NG_027551;NM_001195227;NM_017636;XM_005259017;XM_005259018;XM_006723249 AAI32728;AAL02142;AAM18083;AAP44473;AAP44474;AAP44475;BAA90907;BAF85551;BAG58637;CAC69808;CAE05941;EAW52460;EAW52461;EAW52462;EAW52463;NP_001182156;NP_060106;Q8TD43;XP_005259074;XP_005259075;XP_006723312 Hs.467101 2127029 SHGC-30695 FLJ20041;LTrpC-4;LTrpC4;PFHB1B;TRPM4B;hTRPM4 calcium-activated non-selective cation channel 1;long transient receptor potential channel 4;melastatin-4;transient receptor potential cation channel subfamily M member 4 APPROVED protein-coding ENSG00000130529 HGNC:17993 09502 604559;606936 REVIEWED 1320558 TRPM6 transient receptor potential cation channel, subfamily M, member 6 This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010] 9 9 9 q21.13 47911447 48077035 - 77337411 77503010 - 74722495 74888094 - 1580863;1599669;6480464;7240710;8554872;8699517 12032568 10021370;11357414;12032570;14576148;14976260;15164053;16075242;16150690;16382100;16636202;17098283;17217065;17575980;18029348;18192217;18258429;18301276;18365021;18490453;18660673;18675813;19073827;19149903;19329436;19695239;19937979;20395377;20700443;20875900;21073857;21669885;22180838;22671428;22733750;22982920;23689795;24385424;24650431;8125298;9285786 140803 Q5VYG5;Q96LV9;Q9BX84 ABBA01033884;ABBA01033885;ABBA01033886;AF350881;AF448232;AK000094;AK026281;AK057748;AK225207;AL354795;AL390874;AMYH02021004;AMYH02021005;AMYH02021006;AY333282;AY333283;AY333284;AY333285;AY333286;AY333287;AY333288;CH471089;NG_017036;NM_001177310;NM_001177311;NM_017662;XM_006716959;XR_242568 AAI56138;AAK31202;AAM21562;AAR03487;AAR03488;AAR03489;AAR03490;AAR03491;AAR03492;AAR03493;BAA90941;BAB15429;BAB71558;EAW62553;EAW62554;EAW62555;EAW62556;EAW62557;EAW62558;EAW62559;EAW62560;EAW62561;EAW62562;EAW62563;NP_001170781;NP_001170782;NP_060132;Q9BX84;XP_006717022 Hs.272225 1716539;5022578;5491373 D1S1423;FCA763;RH121555 CHAK2;HMGX;HOMG;HOMG1;HSH OTTHUMP00000021487;channel kinase 2;melastatin-related TRP cation channel 6;transient receptor potential cation channel subfamily M member 6 APPROVED protein-coding ENSG00000119121 HGNC:17995 06112 602014;607009 REVIEWED 1323582 TRPM2 transient receptor potential cation channel, subfamily M, member 2 The protein encoded by this gene is a calcium-permeable cation channel that is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30878659 30971052 + 45770046 45862964 + 44350163 44443081 + 1580863;6480464;8554872 10830953;11290752;11385575;11509734;11804595;11960981;12032305;12377790;12477932;12529379;12564954;12594222;15561722;15708008;15808509;16075382;16252251;16260005;16306129;16316998;16382100;16461353;16565078;16585058;16601673;16719842;16733555;16777714;16822940;17060318;17217061;17251321;17525977;17604279;17940282;18048770;18572241;18599483;18687688;18957938;19004782;19133961;19382906;19454650;19652898;19749482;19887679;20029400;20107186;20194125;20237295;20515676;20587417;20650899;20660597;20799912;21193737;21505784;21602277;21890473;21906983;22226147;22493272;22547068;22750002;22931549;23142700;23185472;23277130;23302782;23443543;23458684;23910495;23957292;24004350;24337049;9179495;9806837 7226 C9JZQ8;E9PGK7;O94759 AB001535;AB017549;AB166745;AB166746;ABBA01074163;ABBA01074164;ABBA01074165;ABBA01074166;ABBA01074167;ABBA01074168;AJ417076;AJ878416;AK301101;AK301451;AMYH02037912;AMYH02037913;AMYH02037914;AP001063;AP001064;AP001065;AP001754;AY603182;BC041570;BC112342;BI755424;BI906484;CH471079;D86107;DQ012935;EU362987;KC877913;KC877916;KC877917;KF457333;NG_022913;NM_003307;NR_038257;R85260;XM_005261171;XM_006724049;XM_006724050 AAI12343;AAT12288;AAY22174;ACA62700;BAA34700;BAA95563;BAB64300;BAD83705;BAD83706;BAG62700;BAG62975;CAD01139;CAI47593;EAX09426;EAX09427;EAX09428;NP_003298;O94759;XP_005261228;XP_006724112;XP_006724113 Hs.369759 1659194;1772172;1784450;1790609;1790611;1790613;2160471;5492151 D21S1870;SHGC-154943;SHGC-51813;SHGC-87688;STS_CEB243;STS_CEB244;STS_CEB245;Trpm2 EREG1;KNP3;LTRPC2;MGC133383;NUDT9H;NUDT9L1;TRPC7 LTrpC-2;OTTHUMP00000038504;OTTHUMP00000038505;OTTHUMP00000109530;OTTHUMP00000207883;estrogen-responsive element-associated gene 1 protein;long transient receptor potential channel 2;transient receptor potential cation channel subfamily M member 2;transient receptor potential channel 7 APPROVED protein-coding ENSG00000142185 HGNC:12339 04777 603749 REVIEWED 1353386 TRPM7 transient receptor potential cation channel, subfamily M, member 7 The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014] 15 15 15 q21 27741918 27871940 - 50849351 50979012 - 50557154 50686815 - 632429;1580863;5684390;5685005;5685008;6480464;7240710;8554872 11161216;16051700;18395621;19405049 10021370;11385574;11941371;12477932;12887921;14594813;14702039;14976260;15069188;15342556;15485879;15489334;15591230;15781465;16075242;16150690;16344560;16357306;16382100;16407977;16436382;16533898;16636202;16943238;17095511;17217066;17310095;17510191;17646711;17785843;17823441;18006838;18073331;18192217;18301276;18365021;18390554;18675813;18719395;18826101;19032368;19145781;19149903;19454490;19515901;19644062;19998500;20070945;20075334;20875900;21112387;21122141;21150127;21183474;21443732;21627970;21906983;21926172;22102510;22183257;22301056;22308955;22323115;22460708;22566504;22634382;22671428;22698280;22759789;22802050;22820907;22871386;23166209;23168410;23247582;23353055;23471296;23533657;23838006;23934071;24223965;24250222;24385424;24752033;24756720;24769209;24849279;24855944;24858416;24920677;24935580;24938632;24952306 54822 H0YLN8;H0YNM0;Q96QT4 ABBA01039106;ABBA01039107;ABBA01039108;AC084756;AF346629;AK000124;AK075193;AK098584;AK172800;AMYH02030411;AMYH02030412;AMYH02030413;AMYH02030414;AMYH02030415;AMYH02030416;AY032950;BC028843;BC051024;BC128987;BC128988;BP354541;CH471082;DB127039;NG_021363;NM_001301212;NM_017672;XM_005254486;XM_005254487;XM_005254488;XM_005254489;XM_006720582 AAH51024;AAK19738;AAK44211;BAA90958;BAC11462;BAD18773;EAW77405;EAW77406;EAW77407;EAW77408;EAW77409;NP_001288141;NP_060142;Q96QT4;XP_005254543;XP_005254544;XP_005254545;XP_005254546;XP_006720645 Hs.512894 1700640;1748505;2176842;5015619;5015861;5015961;5020948;5022450;5024761;5037552;7185938 D10S16;D10S275;D11S3114;D15S1477;D8S2279;G35510;RH103943;RH36905;SHGC-131171;WI-12601 ALSPDC;CHAK;CHAK1;FLJ20117;FLJ25718;LTRPC7;TRP-PLIK LTRPC ion channel family member 7;LTrpC-7;channel-kinase 1;long transient receptor potential channel 7;transient receptor potential cation channel subfamily M member 7;transient receptor potential-phospholipase C-interacting kinase APPROVED protein-coding ENSG00000092439 HGNC:17994 10418 105500;605692 REVIEWED 1312585 TRPM3 transient receptor potential cation channel, subfamily M, member 3 The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 9 9 9 q21.12 43740296 44308807 - 73143979 74061782 - 70529063 71446898 - 6480464;8554872 10997877;11230166;12107412;12107413;12477932;12672799;12672827;14702039;15164053;15550678;15824111;16382100;17217062;17233610;18224337;19240061;20360246;20401728;20834067;20855565;21278253;22000496;22451665;22961981;23121507;23449627;8125298;8889548 80036 A2A3F3;A2A3F4;A2A3F7;E9PBI7;G5E9G1;H0Y3D4;H7BYP1;Q4VXD4;Q504Y1;Q6NW43;Q9H200;Q9HCF6 AB046836;AB099661;AB099662;AB099663;AB099664;AB099665;ABBA01033823;ABBA01033824;ABBA01033825;ABBA01033826;ABBA01033827;ABBA01033828;ABBA01033829;ABBA01033830;ABBA01033831;ABBA01033832;AF325212;AF536748;AF536749;AF536750;AF536751;AF536752;AF536753;AJ505025;AJ505026;AK021788;AK225732;AK308682;AL136545;AL159990;AL160273;AL161913;AL356318;AL358786;AL391819;AL442645;AL592438;AMYH02020954;AMYH02020955;AMYH02020956;AMYH02020957;AMYH02020958;AMYH02020959;AMYH02020960;AMYH02020961;BC022454;BC067733;BC094699;BC121821;BC134414;BC142972;BM668925;CD104154;CD673832;CH471089;KF458923;KF987075;NM_001007470;NM_001007471;NM_020952;NM_024971;NM_206944;NM_206945;NM_206946;NM_206947;NM_206948;XM_005252218 AAG42856;AAH22454;AAH67733;AAH94699;AAI21822;AAI34415;AAI42973;AAI72350;AAO49153;AAO49154;AAO49155;AAO49156;AAO49157;AAO49158;AHI18585;BAB13442;BAB13895;BAC55102;BAC55103;BAC55104;BAC55105;BAC55106;CAB66480;CAD43604;CAD43605;EAW62505;EAW62506;EAW62507;EAW62508;EAW62509;EAW62510;EAW62511;NP_001007471;NP_001007472;NP_066003;NP_079247;NP_996827;NP_996828;NP_996829;NP_996830;NP_996831;Q9HCF6;XP_005252275 Hs.47288 1299885;1336037;1644542;1645450;1654432;1674268;1696370;1698682;1700378;1701180;1708172;1714973;1716339;1716407;1717731;1728949;1751011;1752549;1763409;1763417;1765347;1779214;2120563;2134772;2149031;2157086;2157088;5015619;5037552;7185365 A006J48;A008R10;D10Bir17;D11S3114;D8S2279;D9S1024E;D9S1142;D9S166;D9S1799;G20886;RH102901;RH103809;RH104218;RH120824;RH121199;RH121384;RH121773;RH12865;RH70161;SHGC-104934;SHGC-106450;SHGC-147125;SHGC-147130;SHGC-148841;SHGC-152822;SHGC-30920;SHGC-7281;SHGC-77815;SHGC-79336 GON-2;LTRPC3;MLSN2 LTrpC-3;OTTHUMP00000021445;OTTHUMP00000021447;OTTHUMP00000122556;OTTHUMP00000122557;OTTHUMP00000122558;OTTHUMP00000122559;OTTHUMP00000122560;OTTHUMP00000122561;OTTHUMP00000122562;OTTHUMP00000122563;OTTHUMP00000215759;long transient receptor potential channel 3;melastatin 2;melastatin-2;transient receptor potential cation channel subfamily M member 3 APPROVED protein-coding ENSG00000083067 HGNC:17992 10605 608961 REVIEWED 1323571 TRPS1 trichorhinophalangeal syndrome I This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008] 8 8 8 q24.12 112607772 112867949 - 116420724 116713299 - 115408496 115669028 - 1599670;1580863;6480464;7240710;8554872;8699517 10615131 10647898;10974077;11112658;11359471;11773701;11807863;11950061;12477932;12620233;12885770;14680804;14702039;15523607;16043716;16344560;16940173;17081983;17391059;17467349;17854380;18713754;18946009;19389374;19610100;19913121;20177376;20360068;20379614;20394624;20628086;20634891;20635356;20677014;20686565;21673316;21761336;21761348;21868360;22127049;22190034;22306695;22472876;22481165;22699663;22911880;22990118;23293878;23602568;23726511;23729783;2373110;23762846;23772552;23835950;23897914;24074613;24097068;24416236;24491996;24595984;8530105 7227 C9J6L7;E5RFF3;E5RJ97;E7EVN4;F8W8T0;H0YAV4;H0YC29;Q9UHF7 ABBA01037776;ABBA01037777;ABBA01037778;AF178030;AF183810;AF264784;AK000948;AK021470;AK021511;AK304046;AK309357;AMYH02018650;BC125020;CH471060;DA399687;DC339831;KC877299;KC877300;KC877301;KC877304;KC877306;KC877308;KC877309;KC877310;KC877311;KC877312;KC877313;KC877314;KC877315;KC877316;KC877317;KC877318;KC877319;KF454910;KF454911;KF454912;KF454923;KF454932;KF458825;KF495735;KF495737;KF495801;KF495828;KF495830;KF511060;NG_012383;NM_001282902;NM_001282903;NM_014112;XM_005251049;XM_006716624;XM_006716625 AAF23614;AAG21134;AAI25021;BAA91441;BAG64957;EAW91952;NP_001269831;NP_001269832;NP_054831;Q9UHF7;XP_005251106;XP_006716687;XP_006716688 Hs.657018 1337297;1651089;1655885;1671945;1676860;1695686;1695958;1715877;1726341;1731150;1751251;1771609;2108971;2156443;2173674;7185480 A007K26;D8S547;D8S98;G17280;G62471;RH122672;RH16176;RH99133;SHGC-105098;SHGC-78729;SHGC-78920;STS-H28054;STS-T56980;TRPS1__5142.2;WI-16182 GC79;LGCR;MGC134928 OTTHUMP00000183498;OTTHUMP00000183499;OTTHUMP00000227887;tricho-rhino-phalangeal syndrome type I protein;zinc finger protein GC79;zinc finger transcription factor Trps1 APPROVED protein-coding ENSG00000104447 HGNC:12340 05091 190350;190351;604386 REVIEWED 1312607 TRPM1 transient receptor potential cation channel, subfamily M, member 1 This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 15 15 15 q13.3 9019006 9119394 - 31293264 31453476 - 31001061 31161273 - 6480464;7175561;7175555;7183084;7183085;7240710;8554872;8699517 19878917;19896109;19896113;21439949 11112417;11535825;12477932;14744763;16382100;19396153;19436059;19587221;19721433;19887679;20300565;20346272;20482673;20846719;21278253;21290293;21611200;21832182;21896854;22735794;23452348;23505323;23714322;23936334;24053997;8889548;9537257;9806836 4308 H0YKU7;H0YM61;Q7Z4N2 AB115498;AB115499;AB115500;AB115501;AB115502;ABBA01038323;ABBA01038324;AC009562;AC090829;AC243586;AC243758;AF071787;BC005892;BC017849;BC033627;BC058286;BC070356;BM695497;BU741333;BU743036;BU933033;CH471216;GQ502181;HM135790;HM135791;N42519;NG_016453;NM_001252020;NM_001252024;NM_001252030;NM_002420;XM_006725544 AAC80000;AAH58286;AAI56070;ACV53832;ADJ52077;ADJ52078;BAC80200;BAC80201;BAC80202;BAC80203;BAC80204;EAW61260;EAW61261;EAW61262;EAW61263;EAW61264;NP_001238949;NP_001238953;NP_001238959;NP_002411;Q7Z4N2;XP_006725607 Hs.155942;Hs.732541 1666472;1675909;1705330;1740557;2120058;2133932;2150540;2166574;2167428 D15S1124;RH69308;RH98791;SHGC-31211;SHGC-83514;STS-N21111;STS-N30022;STS-N33330;STS-N35472 CSNB1C;LTRPC1;MLSN1 OTTHUMP00000159584;long transient receptor potential channel 1;melastatin 1;melastatin-1;transient receptor potential cation channel subfamily M member 1;transient receptor potential melastatin family APPROVED protein-coding ENSG00000134160 HGNC:7146 04656 603576;613216 REVIEWED 1346359 TRPV2 transient receptor potential cation channel, subfamily V, member 2 This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16221759 16243216 + 16318856 16340317 + 16415542 16437003 + 70055;1580863;6480464;8554872 10201375 10887936;12077606;12093812;12477932;12765693;12765698;14702039;14991772;15249591;15489334;16115206;16382100;16533525;16777226;16882997;17081065;17977643;18787888;18983665;19482060;19619644;20093382;20103638;20113837;20686800;20926660;21506114;21574765;21890473;21906983;22327830;23294145;23426965;23453732;23542034;23741410;23786999;23874603;23964684;24206072;24475260 51393 H7BZK2;K7EIQ6;K7EKG5;K7ELL3;K7EPY7;Q9Y5S1 A94121;ABBA01035652;AC093484;AF103906;AF129112;AJ487963;AK001896;AK289705;AMYH02033077;AMYH02033078;AX023769;BC018926;BC051305;CH471222;NM_016113;XM_005256676;XM_005256677;XM_005256678;XM_006721541;XM_006721542;XM_006721543 AAD26363;AAD41724;AAH18926;AAH51305;ABM84533;ABM86071;BAF82394;BAG50989;CAB70426;CAD32310;EAX04507;EAX04508;EAX04509;NP_057197;Q9Y5S1;XP_005256733;XP_005256734;XP_005256735;XP_006721604;XP_006721605;XP_006721606 Hs.279746 1680519 RH91543 MGC12549;OTRPC2;VRL;VRL-1;VRL1 OTTHUMP00000064964;osm-9-like TRP channel 2;transient receptor potential cation channel subfamily V member 2;vanilloid receptor-like protein 1 APPROVED protein-coding ENSG00000187688 HGNC:18082 05980 606676 REVIEWED 733197 TRPV1 transient receptor potential cation channel, subfamily V, member 1 Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p13.2 3482474 3526423 - 3468740 3512705 - 3565446 3609411 - 634422;1580863;6480464;7175557;8657122 21958434;22162417;9349813 10725386;11050376;11076863;11124944;11226139;11230166;11243859;11358970;11549313;11884385;12077606;12194871;123456;12393854;12454015;12477932;12490594;12573376;12721390;12765698;12808128;12812762;14506258;14520770;14523239;14554100;14630912;14987252;14996838;15051629;15066994;15190102;15306801;15489336;15574747;15644492;15685214;15691846;15708075;15738111;15793280;15992990;16081411;16099171;16115206;16301147;16319926;16381901;16382100;16406364;16777226;16793902;16842630;16996476;16996800;17016800;17018028;17074976;17109831;17110928;17176640;17184838;17217056;17347480;17385724;17392452;17428642;17442041;17442052;17508023;17508360;17521436;17560936;17567713;17582772;17596456;17626206;17659837;17913835;17927589;17932042;18076848;18222434;18230619;18267041;18414789;18482991;18499726;18503554;18552442;18559878;18574245;18584893;18769453;18786439;18787888;18791833;18830626;18852901;18983665;19036069;19056576;19074743;19155296;19161409;19328632;19333172;19397909;19482060;19598235;19608651;19619644;19651168;19656659;19749171;19770677;19778904;19801576;19877503;19913121;19923855;19959817;20034385;20060270;20096818;20145248;20190512;20351268;20379614;20456759;20515731;20518854;20628086;20639579;20691059;20696376;20807792;21037510;21044960;21076423;21076424;21083604;21160085;21168271;21285946;21310942;21345654;21351130;21451044;21493704;21506114;21546516;21555515;21616913;21654202;21911503;21926175;21945155;21951314;21956871;21960521;21962912;21981454;22089942;22171160;22242698;22260796;22262838;22262885;22327830;22389490;22401740;22443337;22493457;22518827;22556011;22566504;22568077;22570472;22647236;22691178;22792722;22809607;22814029;22820645;22829138;22870787;22883519;22935106;22936245;23047628;23074220;23123284;23139219;23183769;23264624;23279936;23398938;23453732;23458684;23508958;23616546;23689362;23699529;23709255;23820422;24002057;24073800;24084605;24098582;24139494;24189713;24275229;24296694;24312564;24340836;24569998;24599956 7442 E7EQ78;E7ESJ2;I3L1R6;Q8NER1 AA700014;ABBA01054740;ABBA01054741;AC027796;AF196175;AF196176;AF235160;AJ272063;AJ277028;AL136801;AMYH02032803;AMYH02032804;AMYH02032805;AY131289;AY986821;BC132820;BC136633;BF308801;CH471108;DQ177332;DQ177333;DQ898279;FJ695206;KF456230;NG_029716;NM_018727;NM_080704;NM_080705;NM_080706 AAG43466;AAG43467;AAI32821;AAI36634;AAM89472;AAN73432;AAX84657;ABA06605;ABA06606;ABI58280;CAB66735;CAB89866;CAB95729;CAL38563;EAW90497;EAW90498;EAW90499;EAW90500;NP_061197;NP_542435;NP_542436;NP_542437;Q8NER1 Hs.579217;Hs.655380 1673730;1690474;1729849;1760219;1763661;2156690;2168602;2178122;5020274 D17S2148;D17S683;L18441;RH94216;SHGC-132503;SHGC-147347;SHGC-33478;SHGC-33552;STS-T82277 DKFZp434K0220;OTRPC1;VR1 capsaicin receptor;osm-9-like TRP channel 1;transient receptor potential cation channel subfamily V member 1;transient receptor potential vanilloid 1a;transient receptor potential vanilloid 1b;vanilloid receptor 1;vanilloid receptor subtype 1 APPROVED protein-coding ENSG00000196689;ENSG00000262304 HGNC:12716 03648 602076 REVIEWED 1344610 TRPV3 transient receptor potential cation channel, subfamily V, member 3 This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 17 17 17 p13.2 3430192 3475028 - 3413796 3461289 - 3510502 3557995 - 1580863;6480464;7175558;7175554;7183081;7175557;7175556;7175555;8699517;7240710;8554872 19878917;20042636;21970977;22162417;22189789;22284622 12016205;12077604;12077606;12477932;14702039;16382100;17521436;18178557;18787888;18983665;19209153;19864432;20395302;21321070;21490957;21853274;22006988;22405088;22475759;23692804;23800054;24248473;24452206;24463422 162514 B2KYM6;I3L0L5;I3L402;J3KPJ6;Q8NET8 ABBA01054739;ABBA01054740;AC025125;AC027796;AF514998;AJ487035;AK074032;AK127330;AK127726;AK304768;AMYH02032800;AMYH02032801;AMYH02032802;AMYH02032803;AY118267;AY118268;BC104866;BC104868;BC143294;BC143295;BC143299;BC143330;BC143333;BC143334;BC143336;BX537539;CH471108;EU295940;NG_032144;NM_001258205;NM_145068 AAI04867;AAI04869;AAI43295;AAI43300;AAI43331;AAM54027;AAM80558;AAM80559;ACA81614;BAB84858;BAG54484;BAG54559;BAG65523;CAD31711;EAW90502;EAW90503;EAW90504;EAW90505;NP_001245134;NP_659505;Q8NET8 Hs.446255 2107715;5015861;5015879;5016478;5021396;5022578;5092420;5109663;5117897;7185938 D10S16;D1S1423;D7S2067E;G54306;GDB:313783;GDB:314949;GDB:434012;GDB:631813;TRPV3__5144 OLMS;VRL-3;VRL3 OTTHUMP00000115863;transient receptor potential cation channel subfamily V member 3;vanilloid receptor 3;vanilloid receptor-like 3;vanilloid receptor-related osmotically activated channel protein APPROVED protein-coding ENSG00000167723 HGNC:18084 06141 607066;614594 REVIEWED 1349455 TRPT1 tRNA phosphotransferase 1 ENCODES a protein that exhibits 2'-phosphotransferase activity (inferred); transferase activity, transferring phosphorus-containing groups (inferred); tRNA 2'-phosphotransferase activity (inferred); INVOLVED IN regulation of protein kinase activity (inferred); tRNA splicing, via endonucleolytic cleavage and ligation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; hydralazine; valproic acid 11 11 11 q13.1 61318113 61320578 - 63991271 63993726 - 64223799 64226254 - 6480464;8554872 12477932;14504659;15489334;16189514;16344560;17207965;18976975;19953087;21784300;21832049;22939629;23128233;8889548 83707 F5H1K3;F5H6B6;F5H8A0;H0YGY9;Q86TN4 ABBA01003289;AK026364;AMYH02024931;AP005668;AP006334;AW771318;AY211494;BC005133;BG105545;BM982538;BQ672032;BQ674339;CH471076;DA822624;DR004975;NM_001033678;NM_001160389;NM_001160390;NM_001160392;NM_001160393;NM_031472;XM_005274345;XM_005274346;XM_005274347;XM_006718706;XM_006718707;XM_006718708;XM_006718709;XM_006718710 AAH05133;AAO62941;ADQ32835;EAW74201;EAW74202;EAW74203;NP_001028850;NP_001153861;NP_001153862;NP_001153864;NP_001153865;NP_113660;Q86TN4;XP_005274402;XP_005274403;XP_005274404;XP_006718769;XP_006718770;XP_006718771;XP_006718772;XP_006718773 Hs.326586 2138103;2185863 RH41986;WI-16915 MGC11134 OTTHUMP00000237038;OTTHUMP00000237040;OTTHUMP00000237336;OTTHUMP00000237493;tRNA 2'-phosphotransferase 1;tRNA splicing 2' phosphotransferase 1 protein-coding ENSG00000149743 HGNC:20316 17479 610470 VALIDATED 2300660 TRQ-CTG1-1 transfer RNA-Gln (CTG) 1-1 15;MT 15 66161400 66161471 - 65869062 65869133 - 18984615 100189317 ABBA01038835;AC084854;AMYH02030637;HG983716 TRNAQ24 APPROVED trna HGNC:34884 MODEL 1353079 TRQ-CTG1-2 transfer RNA-Gln (CTG) 1-2 17;MT 17 p13.1 8023070 8023141 + 8119752 8119823 + 18984615;2066114;6296772 7228 ABBA01054897;AC129492;AMYH02032919;HG983717;K01797 TRNAQ1;TRQ1 trna glutamine 1 APPROVED trna HGNC:12341 189919 MODEL 2300690 TRQ-CTG1-3 transfer RNA-Gln (CTG) 1-3 6;MT 6 18836402 18836473 + 18836171 18836242 + 18984615 100189287 ABBA01022240;AL355382;AMYH02013231;HG983718 1702434 DXS1403 TRNAQ22 APPROVED trna HGNC:34853 MODEL 731367 TRPV6 transient receptor potential cation channel, subfamily V, member 6 This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Jul 2013] 7 7 7 q34 137406262 137420596 - 142568956 142583490 - 142871203 142885745 - 1580863;6480464;7204689;8554872 20716668 11097838;11208552;11248124;11278579;11401523;11545681;11549322;11719848;11744752;11846401;12011062;12138163;12361955;12390878;12477932;12584203;12601087;12660155;12690205;12765696;12765698;12869611;14534305;14604453;14736889;15020691;15184369;15192090;15582993;15647288;15894168;16189514;16210335;16356545;16382100;16529812;16564089;16574738;16717058;16763551;17002582;17197020;17217060;17233615;17550901;17587679;18245667;18276610;18301763;18392847;18395250;18445599;18976975;19056662;19140341;19169858;19295174;19779013;19857260;20041238;20178461;20405023;20684323;20730379;20843805;20948163;21146870;21228504;21290300;21349844;21400627;21732366;21810903;22163264;22331416;22354706;22378746;22589201;22807578;22932896;23140583;23300090;23373973;23612980;23968883;24592736 55503 C9J9W0;C9JHY1;Q9H1D0 ABBA01034130;ABBA01034131;AC104597;AC239618;AC245427;AF304463;AF365927;AF365928;AJ243500;AJ243501;AJ277909;AJ487964;AK075103;AK075206;AK291707;AW137696;AY203947;AY225461;BC007094;BC034814;BC113101;CH236959;CH471198;KF534785;NM_018646;U82613;X83877;XM_006716043;XM_006716044;XM_006716045 AAB40152;AAG41951;AAH34814;AAI60161;AAL40230;AAM00356;AAO38052;AAP34470;AHA85010;BAC11402;BAC11471;BAF84396;CAA58757;CAB92352;CAC20416;CAC20417;CAD32311;EAL23776;EAW51897;EAW51898;EAW51899;NP_061116;Q9H1D0;XP_006716106;XP_006716107;XP_006716108 Hs.302740 1767279;1772274;1849132;2121313;2136893;2182407 G31055;GDB:1318282;GDB:4585747;IB201;RH71266;SHGC-52550 ABP/ZF;CAT1;CATL;ECAC2;HSA277909;LP6728;ZFAB;caT-L Alu-binding protein with zinc finger domain;OTTHUMP00000211574;caT-like;calcium channel CaT1;calcium transport protein 1;calcium transporter-like protein;epithelial apical membrane calcium transporter/channel CaT1;epithelial calcium channel 2;transient receptor potential cation channel subfamily V member 6 APPROVED protein-coding ENSG00000165125 HGNC:14006 05982 606680 REVIEWED 2300788 TRQ-CTG1-4 transfer RNA-Gln (CTG) 1-4 6;MT 6 27487308 27487379 + 27519529 27519600 + 18984615 100189189 ABBA01037998;AL021918;AMYH02013382;HG983719 TRNAQ16 APPROVED trna HGNC:34752 MODEL 2300655 TRQ-CTG10-1 transfer RNA-Gln (CTG) 10-1 MT 1 1 18984615 100189322 AL139152;HG983732 TRNAQ26 APPROVED trna HGNC:34889 2300856 TRQ-CTG1-5 transfer RNA-Gln (CTG) 1-5 6;MT 6 28909378 28909449 - 28941601 28941672 - 18984615 100189121 ABBA01038029;AL662865;AL662871;AL954865;AMYH02013403;BX248109;BX927167;CR936883;HG983720 TRNAQ11 APPROVED trna HGNC:34683 MODEL 1350143 TRPV5 transient receptor potential cation channel, subfamily V, member 5 This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008] 7 7 7 q35 137442506 137467678 - 142605648 142630820 - 142908482 142933723 - 6480464;7204689;8554872 20716668 10944439;10945469;11549322;11719848;11765215;11846401;12077606;12093812;12198212;12390878;12477932;12660155;12690205;12765698;15489237;15665527;16044309;16189514;16239475;16291808;16382100;16564089;16763551;17018846;17217059;17233615;18077461;18305097;18596722;18703016;19131347;19140341;19157541;19261737;19295174;19423690;19453261;20178461;20405023;20547482;20686800;21035851;21063097;21187068;21576356;21952826;22354706;23024298;23469151;23968883;23970553;24592736 56302 E9PBZ6;H7C2J6;Q9NQA5 ABBA01034131;AC073079;AC099652;AC245136;AC245427;AF304464;AJ271207;AJ401155;AJ487965;AY206695;BC034740;CH236959;CH471198;NM_019841 AAH34740;AAL04015;AAO13488;CAB96365;CAC08182;CAD32312;EAL23777;EAW51896;NP_062815;Q9NQA5 Hs.283369 1755605;2107717;2144184;2159386 RH18225;SHGC-142460;SHGC-33735;TRPV5__5145 CAT2;ECAC1;ECaC;OTRPC3 OTTHUMP00000211572;OTTHUMP00000211602;calcium transport protein 2;calcium transporter 2;epithelial calcium channel 1;osm-9-like TRP channel 3;transient receptor potential cation channel subfamily V member 5 APPROVED protein-coding ENSG00000127412 HGNC:3145 05981 606679 REVIEWED 2300525 TRQ-CTG11-1 transfer RNA-Gln (CTG) 11-1 1 1 1 q21.2 121403240 121403311 - 149079364 149079435 + 143584701 143584772 + 18984615 100189452 ABBA01010827;AC242799;AL732363;HG983733;NG_008508 TRNAQ37P APPROVED pseudo HGNC:35023 INFERRED 2300588 TRQ-CTG12-1 transfer RNA-Gln (CTG) 12-1 MT 1 1 18984615 100189389 AC021648;HG983734 TRNAQ30 APPROVED trna HGNC:34957 2300439 TRQ-CTG13-1 transfer RNA-Gln (CTG) 13-1 5 5 5 q33.1 147329494 147329565 - 151248074 151248145 - 151868513 151868584 - 18984615 100189538 ABBA01026259;AC091982;AMYH02012476;HG983735;NG_008596 TRNAQ53P APPROVED pseudo HGNC:35115 INFERRED 6908972 TRQ-CTG14-1 transfer RNA-Gln (CTG) 14-1 MT 1;MT p36.13 1581 1652 - 17180900 17180971 - 18984615 100189523 BX284668;HG983736 TRNAQ55 APPROVED trna HGNC:38574 732182 TRPM8 transient receptor potential cation channel, subfamily M, member 8 ENCODES a protein that exhibits calcium channel activity (inferred); ion channel activity (inferred); protein homodimerization activity (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); cation transport (inferred); cellular calcium ion homeostasis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); external side of plasma membrane (inferred); integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; calcium atom; calcium(0) 2 2 2 q37.1 228546409 228648542 + 234826043 234928166 + 233917398 234019522 + 1580863;6480464;8554872 11325849;11893340;12477932;12858355;15306801;15489334;15492228;15947109;15950184;15961432;16174775;16382100;17065148;17142461;17217067;17426390;17428469;17510704;17517434;17521436;17604279;18094254;18384850;18440147;18441098;18458237;18485891;18524940;19095656;19159452;19230823;19234481;19363131;19404398;19482060;19507192;19582168;19913121;20043080;20110357;20482834;20531306;20587417;20605675;20628086;20730379;20948964;21052713;21168271;21245133;21282398;21290296;21419293;21542321;21666692;21762971;22042233;22061619;22072275;22128172;22128173;22238755;22267123;22321710;22460725;22683712;22860192;22939629;23185472;23251635;23508958;23554496;23793025;23828908;23911290;23942779;23943870;24002057;24037916;24084605;24135298;24165912;24342393;24529757 79054 F8WD55;H0Y7P0;H7BZP4;Q7Z2W7;W8DTH1 AB061779;ABBA01001951;ABBA01001952;AC005538;AK303811;AMYH02006013;AY090109;AY328400;AY532375;AY532376;BC001135;BC033137;BC126342;BC143819;CH471063;DQ139309;FJ895300;KC692993;KF510796;NM_024080 AAH01135;AAI26343;AAM10446;AAP92167;AAS45275;AAS45276;AAZ73614;ACQ66098;AHF58360;BAB86335;BAG64764;EAW71067;EAW71068;NP_076985;Q7Z2W7 Hs.366053 1784258;1799460;1800066;1800514;1800574;1800880;1801040;1801976;1802050;1802928;1803142;1803144;1803330;1803612;1803994;1805028;1805504;1805738;1806024;1806084;1806198;1806200;1806368;1806476;1807642;1807706;1808118;1809432;1810798;1811164;1812050;1812398;1812474;1812766;1813190;1813260;1813752;1813902;1814070;1814164;1814718;1814942;1815110;1815346;1816154;1816242;1816400;1816934;1816936;1817242;1817424;1817426;1817564;1817750;1818014;1818104;1818106;1818696;1819470;1820812;1821008;1821410;1821818;1823002;1823204;1823206;1823702;1823704;1825688;1826612;1826810;1827512;1827682;1828004;1828272;1828552;1828622;1828708;1828914;1829390;1829486;1830084;1831294;1831340;1833218;1833702;1834658;1834792;1835054;1836308;1836990;1837210;1837472;1837530;1838830;1838940;1838982;1840086;1840826;1840904;1841108;1841462;1842282;1842530;1842742;1843374;1843546;1843668;1845856;1854314;1948308;1948310;1948312;1948314;1948316;1948318;1948320;1948322;1948324;1948326;1948328;1948330;1948332;1948334;1948336;1948338;1948340;1948342;1948344;1948346;1948348;1948350;1948352;1948354;1948356;1948358;1948360;1948362;1948364;1948366;1948368;1948370;1948372;1948374;1948376;1948378;1948380;1948382;1948384;1948386;1948388;1948390;1948392;1948394;1948396;1948398;1948400;1948402;1948404;1948406;1948408;1948410;1948412;1948414;1948416;1948418;1948420;1948422;1948424;1948426;1948428;1948430;1948432;1948434;1948436;1948438;1948440;1948442;1948444;1948446;1948448;1948450;1948452;1948454;1948456;1948458;1948460;1948462;1948464;1948466;1948468;1948470;1948472;1948474;1948476;1948478;1948480;1948482;1948484;1948486;1948488;1948490;1948492;1948494;1948496;1948498;1948500;1948502;1948504;1948506;1948508;1948510;1948512;1948514;1948516;1948518;1948520;1948522;1948524;1948526;1948528;1948530;1948532;1948534;1948536;1948538;1948540;1948542;1948544;1948546;1948548;1948550;1948552;1948554;1948556;1948558;1948560;1948562;1948564;1948566;1948568;1948570;1948572;1948574;1948576;1948578;1948580;1948582;1948584;1948586;1948588;1948590;1948592;1948594;1948596;1948598;1948600;1948602;1948604;1948606;1948608;1948610;1948612;1948614;1948616;1948618;1948620;1948622;1948624;1948626;1948628;1948630;1948632;1948634;1948636;1948638;1948640;1948642;1948644;1948646;1948648;1948650;1948652;1948654;1948656;1948658;1948660;1948662;1948664;1948666;1948668;1948670;1948672;1948674;1948676;1948678;1948680;1948682;1948684;1948686;1948688;1948690;1948692;1948694;1948696;1948698;1948700;1948702;1948704;1948706;1948708;1948710;1948712;1948714;1948716;1948718;1948720;1948722;1948724;1948726;1948728;1948730;1948732;1948734;1948736;1948738;1948740;1948742;1948744;1948746;1948748;1948750;1948752;1948754;1948756;1948758;1948760;1948762;1948764;1948766;1948768;1948770;1948772;1948774;1948776;1948778;1948780;1948782;1948784;1948786;1948788;1948790;1948792;1948794;1948796;1948798;1948800;1948802;1948804;1948806;1948808;1948810;1948812;1948814;1948816;1948818;1948820;1948822;1948824;1948826;1948828;1948830;1948832;1948834;1948836;1948838;1948840;1948842;1948844;1948846;1948848;1948850;1948852;1948854;1948856;1948858;1948860;1948862;1948864;1948866;1948868;1948870;1948872;1948874;1948876;1948878;1948880;1948882;1948884;1948886;1948888;1948890;1948892;1948894;1948896;1948898;1948900;1948902;1948904;1948906;1948908;1948910;1948912;1948914;1948916;1948918;1948920;1948922;1948924;1948926;1948928;1948930;1948932;1948934;1948936;1948938;1948940;1948942;1948944;1948946;1948948;1948950;1948952;1948954;1948956;1948958;1948960;1948962;1948964;1948966;1948968;1948970;1948972;1948974;1948976;1948978;1948980;1948982;1948984;1948986;1948988;1948990;1948992;1948994;1948996;1948998;1949000;1949002;1949004;1949006;1949008;1949010;1949012;1949014;1949016;1949018;1949020;1949022;1949024;1949026;1949028;1949030;1949032;1949034;1949036;1949038;1949040;1949042;1949044;1949046;1949048;1949050;1949052;1949054;1949056;1949058;1949060;1949062;1949064;1949066;1949068;1949070;1949072;1949074;1949076;1949078;1949080;1949082;1949084;1949086;1949088;1949090;1949092;1949094;1949096;1949098;1949100;1949102;1949104;1949106;1949108;1949110;1949112;2201616;2201618;2201620;2201622;2201624;2201626;2201628;2201630;2201632;2201634;2201636;2201638;2201640;2201642;2201644;2201646;2201648;2201650;2201652;2201654;2201656;2201658;2201660;2201662;2201664;2201666;2201668;2201670;2201672;2201674;2201676;2201678;2201680;2201682;2201684;2201686;2201688;2201690;2201692;2201694;2201696;2201698;2201700;2201702;2201704;2201706;2201708;2201710;2201712;2201714;2201716;2201718;2201720;2201722;2201724;2201726;2201728;2201730;2201732;2201734;2201736;2201738;2201740;2201742;2201744;2201746;2201748;2201750;2201752;2201754;2201756;2201758;2201760;2201762;2201764;2201766;2201768;2201770;2201772;2201774;2201776;2201778;2201780;2201782;2201784;2201786 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LTRPC6;LTrpC-6;MGC2849;TRPP8;trp-p8 OTTHUMP00000065206;cold/menthol receptor 1;long transient receptor potential channel 6;short form of the TRPM8 cationic channel;transient receptor melastatin 8;transient receptor potential cation channel subfamily M member 8;transient receptor potential p8;transient receptor potential subfamily M member 8 protein-coding ENSG00000144481 HGNC:17961 09454 606678 VALIDATED 1604803 TRPV4 transient receptor potential cation channel, subfamily V, member 4 This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 12 12 12 q24.1 109845179 109895568 - 110220892 110271212 - 109783087 109833407 - 6480464;7240710;8554872;8699517 10463355;10717675;11025659;11081638;11094154;11160995;11827975;12077606;12093812;12354759;12477932;12538589;12692122;12724311;14517216;15075247;15489228;15489334;15692563;15753126;16293632;16344560;16368742;16382100;16403833;16537379;16627472;17110928;17217058;17233610;17374521;17521436;17620599;17932042;18174177;18284852;18305162;18307101;18343379;18355916;18378772;18458941;18552442;18587396;18682435;18787888;18845910;18983665;19027987;19033444;19066426;19232556;19279160;19359599;19661060;19666518;19701771;19749483;20037586;20037587;20037588;20043876;20190511;20301462;20301532;20392266;20399209;20425821;20460441;20503319;20577006;20605796;20639579;20650893;20888819;21115951;21245013;21262839;21288981;21336783;21339821;21454511;21493730;21506114;21573172;21658220;21685934;21964574;21964829;21996372;22101010;22140047;22187434;22300296;22327830;22374181;22526352;22617546;22675077;22689196;22689561;22702953;22791502;22814746;22851605;22882778;23000965;23049542;23086916;23108102;23143559;23288842;23306656;23333822;23690576;23964684;23999312;24084385;24206072;24440740;24509911;24577120;24789205;24789864;24830047 59341 F5H6Q4;Q9HBA0 AB032427;AB073669;AB100308;ABBA01005076;ABBA01005077;ABBA01005078;ABBA01005079;ABBA01005080;AC007834;AF258465;AF263523;AF279673;AJ296305;AL834192;AMYH02027173;AMYH02027174;AX253075;AX306838;BC117426;BC143307;BC143315;CH471054;DA869138;DQ059644;DQ059645;DQ059646;NG_017090;NM_001177428;NM_001177431;NM_001177433;NM_021625;NM_147204;XM_005253918;XM_005253919 AAG16127;AAG28029;AAI17427;AAI43316;AAK69487;AAZ04918;AAZ04919;AAZ04920;BAB69040;BAC06573;BAC55864;CAC82937;CAC93827;CAD19330;EAW97878;EAW97879;NP_001170899;NP_001170902;NP_001170904;NP_067638;NP_671737;Q9HBA0;XP_005253975;XP_005253976 Hs.506713 1698868;2128758;5492359;7186758 D12S105;D12S1329;RH102999;Trpv4 CMT2C;HMSN2C;OTRPC4;SMAL;SPSMA;SSQTL1;TRP12;VR-OAC;VRL-2;VRL2 OSM9-like transient receptor potential channel 4;OTTHUMP00000240659;OTTHUMP00000240660;OTTHUMP00000240662;OTTHUMP00000240663;OTTHUMP00000240664;OTTHUMP00000240665;VROAC;osm-9-like TRP channel 4;osmosensitive transient receptor potential channel 4;transient receptor potential cation channel subfamily V member 4;transient receptor potential protein 12;vanilloid receptor-like channel 2;vanilloid receptor-related osmotically activated channel APPROVED protein-coding ENSG00000111199 HGNC:18083 05667 113500;156530;168400;181405;184095;184252;600175;605427;606071;606835;613508 REVIEWED 2300961 TRQ-CTG15-1 transfer RNA-Gln (CTG) 15-1 MT 1 1 18984615 100189016 AC006450;HG983737 TRNAQ6 APPROVED trna HGNC:34575 2300474 TRQ-CTG16-1 transfer RNA-Gln (CTG) 16-1 2 2 2 q35 213258890 213258965 + 219491132 219491207 + 218626409 218626484 + 18984615 100189503 ABBA01023863;AC012510;AMYH02005803;HG983738;NG_008561 TRNAQ44P APPROVED pseudo HGNC:35078 INFERRED 2300626 TRQ-CTG18-1 transfer RNA-Gln (CTG) 18-1 MT 1 1 18984615 100189351 AC009097;HG983740 TRNAQ28 APPROVED trna HGNC:34919 2300675 TRQ-CTG17-1 transfer RNA-Gln (CTG) 17-1 MT 1 1 18984615 100189302 AL035045;HG983739 TRNAQ23 APPROVED trna HGNC:34868 2300591 TRQ-CTG3-1 transfer RNA-Gln (CTG) 3-1 1;MT 145963304 145963375 + 18984615 100189386 AL356004;HG983722 TRNAQ29 APPROVED trna HGNC:34954 2300709 TRQ-CTG2-1 transfer RNA-Gln (CTG) 2-1 6;MT 6 27515531 27515602 - 27547752 27547823 - 18984615 100189268 ABBA01037998;AL021918;AMYH02013382;HG983721 TRNAQ21 APPROVED trna HGNC:34831 MODEL 2300837 TRQ-CTG3-2 transfer RNA-Gln (CTG) 3-2 1;MT 1 147505038 147505109 + 148032790 148032861 + 18984615 100189140 ABBA01017294;AC239803;BX537254;HG983723 TRNAQ13 APPROVED trna HGNC:34702 MODEL 2300921 TRQ-CTG4-1 transfer RNA-Gln (CTG) 4-1 1;MT 1 147737382 147737453 - 148265108 148265179 - 18984615 100189056 ABBA01002268;AC239809;AL451043;HG983724 TRNAQ8 APPROVED trna HGNC:34615 MODEL 2300648 TRQ-CTG5-1 transfer RNA-Gln (CTG) 5-1 6;MT 6 27263212 27263283 + 27295433 27295504 + 18984615 100189329 ABBA01037992;AL021808;AMYH02013380;HG983726 TRNAQ27 APPROVED trna HGNC:34896 MODEL 2300716 TRQ-CTG4-2 transfer RNA-Gln (CTG) 4-2 1;MT 1 149186125 149186196 + 143691474 143691545 + 18984615 100189261 ABBA01010824;AC239800;AL356957;HG983725 TRNAQ20 APPROVED trna HGNC:34824 MODEL 2300979 TRQ-CTG7-1 transfer RNA-Gln (CTG) 7-1 1;MT 1 147800937 147801008 + 148328812 148328883 + 18984615 100188998 ABBA01053732;AC245100;AL592207;HG983728 TRNAQ3 APPROVED trna HGNC:34555 MODEL 2300763 TRQ-CTG6-1 transfer RNA-Gln (CTG) 6-1 6;MT 6 27759135 27759206 - 27791356 27791427 - 18984615 100189214 ABBA01038011;AL009179;AMYH02013388;HG983727 TRNAQ17 APPROVED trna HGNC:34777 MODEL 2300760 TRQ-CTG8-1 transfer RNA-Gln (CTG) 8-1 MT 1 1 18984615 100189217 AL138796;HG983729 TRNAQ19 APPROVED trna HGNC:34780 2300967 TRQ-TTG10-1 transfer RNA-Gln (TTG) 10-1 MT 1 1 18984615 100189010 AL096712;HG983752 TRNAQ5 APPROVED trna HGNC:34569 2300446 TRQ-CTG9-1 transfer RNA-Gln (CTG) 9-1 1 1 1 q21.2 121084499 121084570 + 147825689 147825760 + 148353561 148353632 + 18984615 100189531 ABBA01053732;AC245100;AL592207;HG983731;NG_008589 TRNAQ51P APPROVED pseudo HGNC:35108 INFERRED 2300823 TRQ-CTG8-2 transfer RNA-Gln (CTG) 8-2 MT 1 1 18984615 100189154 AL592307;HG983730 TRNAQ14 APPROVED trna HGNC:34716 1349965 TRQ-TTG1-1 transfer RNA-Gln (TTG) 1-1 Mammalian cells contain at least 2 species of glutamine tRNA, the Gln(CUG) form (TRQ1; MIM 189919) and the Gln(UUG) form. Nemoto et al. (1991) [PubMed 2041751] reported the nucleotide sequence of the human tRNA(Gln/UUG) gene. In a correction, Nemoto et al. (1991) [PubMed 2041751] stated that the gene involved should have been designated tRNA-GLN/U*UG, where U* is a derivative of U.[supplied by OMIM, Sep 2009] 17;MT 17 q21.32 47269890 47269961 + 49192528 49192599 + 18984615;2041751 7229 ABBA01041191;AC069454;AMYH02033562;HG983741;X58792 TRNAQ2;TRQ2 trna glutamine 2 APPROVED trna HGNC:12342 189923 MODEL 2300839 TRQ-TTG2-1 transfer RNA-Gln (TTG) 2-1 6;MT 6 28557156 28557227 + 28589379 28589450 + 18984615 100189138 ABBA01038023;AL049543;AL671879;AMYH02013396;HG983742 TRNAQ12 APPROVED trna HGNC:34700 MODEL 2300656 TRQ-TTG3-1 transfer RNA-Gln (TTG) 3-1 6;MT 6 26311424 26311495 - 26311196 26311267 - 18984615 100189321 ABBA01066554;AL021917;AMYH02013350;HG983743;KF458127 2150664 D6S2292 TRNAQ25 APPROVED trna HGNC:34888 MODEL 2300903 TRQ-TTG3-3 transfer RNA-Gln (TTG) 3-3 6;MT 6 27763640 27763711 - 27795861 27795932 - 18984615 100189074 ABBA01038011;AL009179;AMYH02013388;HG983745 TRNAQ10 APPROVED trna HGNC:34633 MODEL 2300792 TRQ-TTG3-2 transfer RNA-Gln (TTG) 3-2 6;MT 6 26311975 26312046 - 26311747 26311818 - 18984615 100189185 ABBA01066554;AL021917;AMYH02013350;HG983744 2150664 D6S2292 TRNAQ15 APPROVED trna HGNC:34748 MODEL 2300555 TRQ-TTG4-1 transfer RNA-Gln (TTG) 4-1 6;MT 6 145503859 145503930 + 145182723 145182794 + 18984615 100189422 ABBA01025731;AL050334;AMYH02014647;HG983746 TRNAQ32 APPROVED trna HGNC:34991 MODEL 2300504 TRQ-TTG5-1 transfer RNA-Gln (TTG) 5-1 2 2 2 p21 45775652 45775724 - 45937441 45937513 - 45710302 45710374 - 18984615 100189473 ABBA01075132;AC092600;AMYH02003723;HG983747;NG_008531 TRNAQ39P APPROVED pseudo HGNC:35046 INFERRED 2300533 TRQ-TTG7-1 transfer RNA-Gln (TTG) 7-1 5 5 5 q14.1 73212635 73212707 - 77318776 77318848 - 78022952 78023024 - 18984615 100189444 ABBA01061990;AC024578;AMYH02011625;HG983749;NG_008500 TRNAQ33P APPROVED pseudo HGNC:35014 INFERRED 2300951 TRQ-TTG6-1 transfer RNA-Gln (TTG) 6-1 MT 1 1 18984615 100189026 AC108937;HG983748 TRNAQ7 APPROVED trna HGNC:34585 2300734 TRR-ACG1-1 transfer RNA-Arg (ACG) 1-1 14;MT 14 23398910 23398982 + 22929701 22929773 + 18984615 100189243 ABBA01061291;AL132780;AMYH02028855;HG983594 TRNAR21 APPROVED trna HGNC:34806 MODEL 2300472 TRQ-TTG8-1 transfer RNA-Gln (TTG) 8-1 19 19 19 p13.2 9045230 9045302 - 9150356 9150428 - 9039680 9039752 - 18984615 100189505 ABBA01029990;AC016584;AMYH02035456;HG983750;NG_008563 TRNAQ45P APPROVED pseudo HGNC:35080 INFERRED 2300468 TRQ-TTG9-1 transfer RNA-Gln (TTG) 9-1 12 12 12 q23.1 97156704 97156777 - 97490691 97490764 - 97096913 97096986 - 18984615 100189509 ABBA01053307;AC007656;AMYH02027021;HG983751;NG_008567 TRNAQ46P APPROVED pseudo HGNC:35084 INFERRED 2300581 TRR-ACG1-2 transfer RNA-Arg (ACG) 1-2 6;MT 6 26328368 26328440 + 26328140 26328212 + 18984615 100189396 ABBA01066554;AL021917;AMYH02013350;HG983595 TRNAR26 APPROVED trna HGNC:34964 MODEL 2300810 TRR-ACG2-2 transfer RNA-Arg (ACG) 2-2 6;MT 6 27181623 27181695 - 27213844 27213916 - 18984615 100189167 ABBA01037989;AL121934;AMYH02013379;HG983598 TRNAR17 APPROVED trna HGNC:34729 MODEL 2300874 TRR-ACG2-1 transfer RNA-Arg (ACG) 2-1 3;MT 3 45730491 45730563 - 45688999 45689071 - 18984615 100189103 ABBA01024721;AC098476;AMYH02006667;HG983597 TRNAR11 APPROVED trna HGNC:34664 MODEL 1343866 TRR-ACG1-3 transfer RNA-Arg (ACG) 1-3 6;MT 6 p21.3 26537726 26537798 + 26537498 26537570 + 1457046;18984615;2585499;8344269 7231 ABBA01066557;AL121936;AMYH02013353;HG983596;X64282 TRNAR2;TRR2 trna arginine (acg) 2 APPROVED trna HGNC:12344 615305 MODEL 2300878 TRR-ACG2-3 transfer RNA-Arg (ACG) 2-3 6;MT 6 27182952 27183024 + 27215173 27215245 + 18984615 100189099 ABBA01037989;AL021808;AMYH02013379;HG983599 TRNAR10 APPROVED trna HGNC:34660 MODEL 2300549 TRR-ACG2-4 transfer RNA-Arg (ACG) 2-4 6;MT 6 27638344 27638416 - 27670565 27670637 - 18984615 100189428 ABBA01038004;AL031229;AMYH02013386;HG983600 2156022;2175249 D6S1078;RH37471 TRNAR29 APPROVED trna HGNC:34997 MODEL 2300804 TRR-CCG1-1 transfer RNA-Arg (CCG) 1-1 16;MT 16 3200675 3200747 + 3150674 3150746 + 18984615 100189173 ABBA01026728;AC108134;AMYH02031283;HG983601 1712829 RH120131 TRNAR19 APPROVED trna HGNC:34735 MODEL 2300612 TRR-CCG1-2 transfer RNA-Arg (CCG) 1-2 6;MT 6 28710729 28710801 - 28742952 28743024 - 18984615 100189365 ABBA01038026;AL662890;AL671879;AMYH02013400;BX088523;BX908720;CR753905;HG983602 TRNAR24 APPROVED trna HGNC:34933 MODEL 2300893 TRR-CCG1-3 transfer RNA-Arg (CCG) 1-3 6;MT 6 28849165 28849237 + 28881388 28881460 + 18984615 100189084 ABBA01038028;AL662859;AL662871;AMYH02013403;BX000360;BX119924;CR759942;CR936876;HG983603 TRNAR9 APPROVED trna HGNC:34644 MODEL 1348939 TRR-CCG2-1 transfer RNA-Arg (CCG) 2-1 17;MT 17 q24.2 66016013 66016085 - 68019897 68019969 - 18984615 7233 ABBA01028973;AC134407;AMYH02033864;HG983604 TRNAR4;TRR4 APPROVED trna HGNC:12346 MODEL 2300899 TRR-CCT1-1 transfer RNA-Arg (CCT) 1-1 17;MT 17 73030001 73030073 + 75033906 75033978 + 18984615 100189078 ABBA01028819;AC087651;AMYH02033982;HG983605 TRNAR8 APPROVED trna HGNC:34638 MODEL 2300796 TRR-CCT2-1 transfer RNA-Arg (CCT) 2-1 17;MT 17 73030526 73030598 - 75034431 75034503 - 18984615 100189181 ABBA01028819;AC087651;AMYH02033982;HG983606 TRNAR20 APPROVED trna HGNC:34744 MODEL 2300809 TRR-CCT3-1 transfer RNA-Arg (CCT) 3-1 16;MT 16 3202901 3202973 + 3152900 3152972 + 18984615 100189168 ABBA01026729;AC108134;AMYH02031283;HG983607 TRNAR18 APPROVED trna HGNC:34730 MODEL 2300571 TRR-CCT4-1 transfer RNA-Arg (CCT) 4-1 7;MT 7 139025446 139025518 + 139340700 139340772 + 18984615 100189406 ABBA01001188;AC083880;AMYH02016884;HG983608 TRNAR27 APPROVED trna HGNC:34975 MODEL 2300707 TRR-CCT5-1 transfer RNA-Arg (CCT) 5-1 16;MT 16 3243918 3243990 + 3193918 3193990 + 18984615 100189270 AJ003147;AMYH02031284;HG983609 TRNAR23 APPROVED trna HGNC:34833 MODEL 2300528 TRR-CCT6-2 transfer RNA-Arg (CCT) 6-2 1 1 1 q21.2 120877507 120877577 - 147483291 147483361 + 148011059 148011129 + 18984615 100189449 ABBA01004431;AC239803;AL356004;BX537254;HG983611;NG_008505 TRNAR31P;TRNAR33P APPROVED pseudo HGNC:35019 INFERRED 2300475 TRR-CCT8-1 transfer RNA-Arg (CCT) 8-1 1 1 1 q21.2 515 585 + 149728271 149728341 - 149756721 149756791 - 18984615 100189502 AC243772;AL591493;HG983613;NG_008560 TRNAR32P APPROVED pseudo HGNC:35077 INFERRED 2300534 TRR-CCT7-1 transfer RNA-Arg (CCT) 7-1 1 1 q21.2 149343081 149343151 - 143848514 143848584 - 18984615 100189443 AC239798;AL109948;HG983612;NG_008499 TRNAR30P APPROVED pseudo HGNC:35013 INFERRED 2300440 TRR-CCT9-1 transfer RNA-Arg (CCT) 9-1 11 11 11 q13.1 60987958 60988026 + 63661767 63661835 + 63894295 63894363 + 18984615 100189537 ABBA01003274;AP003780;HG983614;NG_008595;NG_029771 TRNAR34P APPROVED pseudo HGNC:35114 INFERRED 2300567 TRR-TCG2-1 transfer RNA-Arg (TCG) 2-1 6;MT 6 26323046 26323118 + 26322818 26322890 + 18984615 100189410 ABBA01066554;AL021917;AMYH02013350;HG983616 TRNAR28 APPROVED trna HGNC:34979 MODEL 2300606 TRR-TCG3-1 transfer RNA-Arg (TCG) 3-1 17;MT 17 73031208 73031280 + 75035113 75035185 + 18984615 100189371 ABBA01028819;AC087651;AMYH02033982;HG983617 TRNAR25 APPROVED trna HGNC:34939 MODEL 1347212 TRR-TCG4-1 transfer RNA-Arg (TCG) 4-1 6;MT 6 p22.1 26299905 26299977 + 26299677 26299749 + 18984615;8661117 7232 ABBA01066554;AL021917;AMYH02013350;HG983618;Z69590 TRNAR3;TRR3 trna arginine (ucg) 3 APPROVED trna HGNC:12345 601432 MODEL 2300943 TRR-TCG5-1 transfer RNA-Arg (TCG) 5-1 6;MT 6 28510891 28510963 - 28543114 28543186 - 18984615 100189034 ABBA01038021;AL049543;AMYH02013394;HG983619 TRNAR7 APPROVED trna HGNC:34593 MODEL 2300952 TRR-TCG6-1 transfer RNA-Arg (TCG) 6-1 9;MT 9 112960803 112960875 + 110198523 110198595 + 18984615 100189025 ABBA01042751;AL353598;AMYH02021448;HG983620 TRNAR6 APPROVED trna HGNC:34584 MODEL 1353741 TRR-TCT2-1 transfer RNA-Arg (TCT) 2-1 Transfer RNA arginine-1 has an anticodon UCU (Morrison et al., 1991 [PubMed 2066114]).[supplied by OMIM, Sep 2009] 17;MT 17 p13.1 8024243 8024330 + 8120925 8121012 + 10662545;2066114;7703509 7230 ABBA01054897;AC129492;AMYH02032919;HG983622;Z26635 TRNAR1;TRR1 trna arginine (ucu) 1 APPROVED trna HGNC:12343 610406 MODEL 2300844 TRR-TCT1-1 transfer RNA-Arg (TCT) 1-1 1;MT 1 94313129 94313213 + 93847573 93847657 + 100189133 ABBA01045519;AL049796;AMYH02001505;HG983621 TRNAR15 APPROVED trna HGNC:34695 MODEL 2300862 TRR-TCT3-1 transfer RNA-Arg (TCT) 3-1 11;MT 11 59318767 59318852 + 59551294 59551379 + 100189115 ABBA01021502;AMYH02024864;AP003778;HG983623 TRNAR14 APPROVED trna HGNC:34677 MODEL 2300868 TRR-TCT3-2 transfer RNA-Arg (TCT) 3-2 9;MT 9 131102355 131102445 - 128340076 128340166 - 100189109 ABBA01043877;AL359091;AMYH02021712;HG983624 TRNAR12 APPROVED trna HGNC:34670 MODEL 2300811 TRR-TCT4-1 transfer RNA-Arg (TCT) 4-1 1;MT 1 159111401 159111474 - 159141611 159141684 - 18984615 100189166 ABBA01016620;AL035403;AMYH02002009;HG983625 2173585 B364YF5 TRNAR16 APPROVED trna HGNC:34728 MODEL 2300451 TRS-ACT1-1 transfer RNA-Ser (ACT) 1-1 6 6 6 p22.1 28867674 28867747 + 27261671 27261744 + 27293892 27293965 + 18984615 100189526 ABBA01037992;AL021808;AMYH02013380;HG984007;NG_008584 TRNAS32P APPROVED pseudo HGNC:35102 INFERRED 2300965 TRR-TCT5-1 transfer RNA-Arg (TCT) 5-1 6;MT 6 27529963 27530049 + 27562184 27562270 + 100189012 ABBA01037999;AL021918;AMYH02013382;HG983626 TRNAR5 APPROVED trna HGNC:34571 MODEL 2300713 TRR-TCG1-1 transfer RNA-Arg (TCG) 1-1 15;MT 15 89878304 89878376 + 89335073 89335145 + 18984615 100189264 ABBA01053007;AC124068;AMYH02031018;HG983615 TRNAR22 APPROVED trna HGNC:34827 MODEL 2300625 TRS-AGA1-1 transfer RNA-Ser (AGA) 1-1 6;MT 6 27509554 27509635 - 27541775 27541856 - 18984615 100189352 ABBA01037998;AL021918;AMYH02013382;HG984008 TRNAS24 APPROVED trna HGNC:34920 MODEL 2300793 TRS-AGA2-1 transfer RNA-Ser (AGA) 2-1 17;MT 17 8129928 8130009 - 8226610 8226691 - 18984615 100189184 ABBA01054904;AC135178;AMYH02032923;HG984009 TRNAS14 APPROVED trna HGNC:34747 MODEL 2300595 TRS-AGA2-2 transfer RNA-Ser (AGA) 2-2 6;MT 6 26327817 26327898 + 26327589 26327670 + 18984615 100189382 ABBA01066554;AL021917;AMYH02013350;HG984010 TRNAS25 APPROVED trna HGNC:34950 MODEL 2300900 TRS-AGA2-3 transfer RNA-Ser (AGA) 2-3 6;MT 6 27446591 27446672 + 27478812 27478893 + 18984615 100189077 ABBA01037996;AL021918;AMYH02013382;HG984011 TRNAS10 APPROVED trna HGNC:34637 MODEL 2300730 TRS-AGA2-5 transfer RNA-Ser (AGA) 2-5 6;MT 6 27470818 27470899 + 27503039 27503120 + 18984615 100189247 ABBA01037998;AL021918;AMYH02013382;HG984013 TRNAS19 APPROVED trna HGNC:34810 MODEL 1342551 TRS-AGA2-4 transfer RNA-Ser (AGA) 2-4 Hoe et al. (1987) [PubMed 3697066] sequenced a human serine (AGA) tRNA by the dideoxysequencing method and compared it with previously sequenced serine tRNAs.[supplied by OMIM, Sep 2009] 6;MT 6 p21.3 27463593 27463674 + 27495814 27495895 + 18984615;3697066;9637248 23437 ABBA01037998;AL021918;AMYH02013382;HG984012;M38616;X06221 1753595 SHGC-107535 TRNAS2;TRNS;TRS2;tRNA-SER trna serine (aga) 2 APPROVED trna HGNC:16293 189910 MODEL 2300729 TRS-AGA2-6 transfer RNA-Ser (AGA) 2-6 8;MT 8 96281885 96281966 - 95269657 95269738 - 18984615 100189248 ABBA01037480;AC024995;AMYH02018446;HG984014 TRNAS20 APPROVED trna HGNC:34811 MODEL 1605442 TRS-AGA3-1 transfer RNA-Ser (AGA) 3-1 6;MT 6 p22.1 27499987 27500068 + 27532208 27532289 + 18984615;3340558 790951 ABBA01037998;AL021918;AMYH02013382;HG984015;X06760 TRNAS4;TRS4 APPROVED trna HGNC:33201 MODEL 2300907 TRS-AGA4-1 transfer RNA-Ser (AGA) 4-1 6;MT 6 27521192 27521273 - 27553413 27553494 - 18984615 100189070 ABBA01037998;AL021918;AMYH02013382;HG984016 TRNAS9 APPROVED trna HGNC:34629 MODEL 2300545 TRS-AGA5-1 transfer RNA-Ser (AGA) 5-1 7;MT 7 149305467 149305538 + 149608376 149608447 + 18984615 100189432 ABBA01033635;AC004932;AMYH02017051;HG984017 TRNAS28 APPROVED trna HGNC:35001 MODEL 2300557 TRS-AGA6-1 transfer RNA-Ser (AGA) 6-1 MT 1 1 18984615 100189420 AP003123;HG984018 TRNAS26 APPROVED trna HGNC:34989 2300936 TRS-CGA2-1 transfer RNA-Ser (CGA) 2-1 6;MT 6 27177628 27177709 + 27209849 27209930 + 18984615 100189041 ABBA01037989;AL121934;AMYH02013378;HG984021 TRNAS7 APPROVED trna HGNC:34600 MODEL 2300772 TRS-CGA3-1 transfer RNA-Ser (CGA) 3-1 6;MT 6 27640229 27640310 - 27672450 27672531 - 18984615 100189205 ABBA01038004;AL009179;AMYH02013387;HG984022 TRNAS15 APPROVED trna HGNC:34768 MODEL 2300490 TRS-AGA7-1 transfer RNA-Ser (AGA) 7-1 20 20 20 q11.21 26844885 26844956 + 30088703 30088774 + 31500900 31500971 + 18984615 100189487 ABBA01019307;AL121751;AMYH02036895;HG984019;NG_008545 TRNAS29P APPROVED pseudo HGNC:35060 INFERRED 2300940 TRS-CGA1-1 transfer RNA-Ser (CGA) 1-1 17;MT 17 8042199 8042280 - 8138881 8138962 - 18984615 100189037 ABBA01054897;AC129492;AMYH02032920;HG984020 TRNAS6 APPROVED trna HGNC:34596 MODEL 2300820 TRS-GCT1-1 transfer RNA-Ser (GCT) 1-1 6;MT 6 27065085 27065166 + 27097306 27097387 + 18984615 100189157 ABBA01037986;AL021807;AMYH02013375;HG984024 2167710 D6S2346 TRNAS12 APPROVED trna HGNC:34719 MODEL 2300825 TRS-CGA4-1 transfer RNA-Ser (CGA) 4-1 12;MT 12 56584148 56584229 + 56190364 56190445 + 18984615 100189152 ABBA01008408;AC073896;AMYH02026562;HG984023 TRNAS11 APPROVED trna HGNC:34714 MODEL 1313479 TRRAP transformation/transcription domain-associated protein This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 7 7 7 q21.2-q22.1 93204993 93339694 + 98476113 98610866 + 98878490 99013243 + 6480464;9495926;8554872 21502417 10373431;10611234;10966108;11406595;11415895;11418595;11445536;11509179;11511539;11564863;11839798;12015309;12077335;12138177;12477932;12601814;12660246;12690205;12738788;12743606;12853948;12897156;12963728;14702039;14966270;15115762;15302935;15647280;15649435;15711126;15870280;15899866;15932940;16341205;16344560;16382133;16387653;16407974;16494529;16510874;16510875;16705173;17308053;17314511;17375202;17643375;17694078;17761535;17846119;17967892;18029348;18160036;18206972;18206973;18250150;18347063;18418385;18838386;19066453;19454010;19471022;19553677;19615732;19818711;20070254;20085741;20332121;20371770;20379614;20427287;20508642;20534441;20937768;20943076;20946988;21139048;21145461;21320693;21499247;21653943;21822266;21828133;21890473;21906983;22288532;22467210;22586326;22623531;22939629;23000965;23044487;23318449;23362228;23402259;24457600;24705139;24778252;24816145;25027693;9708738;9885574 8295 C9K0N1;F2Z2U4;H0Y4W2;Q9Y4A5 AB209489;ABBA01045696;AC004893;AC004991;AF076974;AF110377;AL050077;AMYH02016347;AMYH02016348;AMYH02016349;BC032759;BQ006165;CH236956;CH471091;DA113420;NG_030010;NM_001244580;NM_003496 AAC27675;AAC62433;AAD04629;AAD09420;AAH32759;BAD92726;EAL23887;EAW76693;EAW76694;EAW76695;EAW76696;EAW76697;EAW76698;EAW76699;EAW76700;NP_001231509;NP_003487;Q9Y4A5 Hs.203952 1335214;1644963;1647060;1659676;1707182;1723747;1770599;1772877;1789294;2120732;2132200;2144885;2183160;7185529 A008I35;D7S2365;D7S651;G67873;GDB:3754978;GDB:4585297;GDB:4585656;GDB:4585763;NIB217;RH118609;SGC31237;SHGC-79175;WI-17093 FLJ10671;PAF350/400;PAF400;STAF40;TR-AP;Tra1 350/400 kDa PCAF-associated factor;OTTHUMP00000197292;OTTHUMP00000197293;OTTHUMP00000197294;OTTHUMP00000197295;tra1 homolog APPROVED protein-coding ENSG00000196367 HGNC:12347 04310 603015 REVIEWED 2300692 TRS-GCT3-1 transfer RNA-Ser (GCT) 3-1 11;MT 11 66115591 66115672 + 66348120 66348201 + 18984615 100189285 ABBA01024083;AMYH02024976;AP001107;HG984026 TRNAS22 APPROVED trna HGNC:34851 MODEL 2300975 TRS-GCT2-1 transfer RNA-Ser (GCT) 2-1 6;MT 6 27265775 27265856 + 27297996 27298077 + 18984615 100189002 ABBA01037992;AL021808;AMYH02013380;HG984025 TRNAS5 APPROVED trna HGNC:34559 MODEL 2300646 TRS-GCT4-2 transfer RNA-Ser (GCT) 4-2 17;MT 17 8090184 8090265 + 8186866 8186947 + 18984615 100189331 ABBA01054901;AC129492;AMYH02032922;HG984028 TRNAS23 APPROVED trna HGNC:34898 MODEL 2300752 TRS-GCT4-3 transfer RNA-Ser (GCT) 4-3 6;MT 6 28565117 28565198 - 28597340 28597421 - 18984615 100189225 ABBA01038023;AL049543;AL671879;AMYH02013397;HG984029 TRNAS17 APPROVED trna HGNC:34788 MODEL 2300748 TRS-GCT4-1 transfer RNA-Ser (GCT) 4-1 15;MT 15 40886023 40886104 - 40593825 40593906 - 18984615 100189229 ABBA01038442;AC022405;AMYH02030244;HG984027 TRNAS18 APPROVED trna HGNC:34792 MODEL 2300818 TRS-GCT5-1 transfer RNA-Ser (GCT) 5-1 6;MT 6 28180815 28180896 + 28213037 28213118 + 18984615 100189159 ABBA01038015;AL022393;AMYH02013392;HG984030 1775788;2148198 FB2A3;WI-13282 TRNAS13 APPROVED trna HGNC:34721 MODEL 2300698 TRS-TGA1-1 transfer RNA-Ser (TGA) 1-1 10;MT 10 69524261 69524342 + 67764503 67764584 + 18984615 100189279 ABBA01019548;AL133551;AMYH02023242;HG984032 TRNAS21 APPROVED trna HGNC:34845 MODEL 2300759 TRS-GCT6-1 transfer RNA-Ser (GCT) 6-1 6;MT 6 26305718 26305801 - 26305490 26305573 - 18984615 100189218 ABBA01066554;AL021917;AMYH02013350;HG984031 TRNAS16 APPROVED trna HGNC:34781 MODEL 1348651 TRS-TGA2-1 transfer RNA-Ser (TGA) 2-1 Hong et al. (1987) [PubMed 3648680] sequenced a human serine (UGA) tRNA by the dideoxysequencing method. The gene forms a typical cloverleaf structure with all appropriate conserved bases. It shows high nucleotide sequence homology with a previously sequenced serine tRNA (Yoo, 1984).[supplied by OMIM, Sep 2009] 6;MT 6 p22.1 27513468 27513549 + 27545689 27545770 + 18984615;3648680 94017 ABBA01037998;AL021918;AMYH02013382;HG984033;Y00355 TRNAS1;TRS1 trna serine (uga) 1 APPROVED trna HGNC:16292 606171 MODEL 2300547 TRS-TGA3-1 transfer RNA-Ser (TGA) 3-1 6;MT 6 26312824 26312905 - 26312596 26312677 - 18984615 100189430 ABBA01066554;AL021917;AMYH02013350;HG984034 2150664 D6S2292 TRNAS27 APPROVED trna HGNC:34999 MODEL 1351968 TRS-TGA4-1 transfer RNA-Ser (TGA) 4-1 Hong et al. (1992) [PubMed 1549482] sequenced a human serine tRNA by the dideoxysequencing method. Sequence analysis revealed that the gene forms a typical cloverleaf structure with all appropriate conserved bases, and that the anticodon sequence is 5-prime-UGA-3-prime. The gene has no introns and its nucleotide sequence is highly homologous to those of previously characterized serine tRNAs.[supplied by OMIM, Sep 2009] 6;MT 6 p22.1 27473607 27473688 - 27505828 27505909 - 1549482;18984615 23540 ABBA01037998;AL021918;AMYH02013382;HG984035;X63138 TRNAS3;TRS3 trna serine (uga) 3 APPROVED trna HGNC:16294 606172 MODEL 2300535 TRSUP-CTA2-1 transfer RNA suppressor (CTA) 2-1 3 3 p25.1 13772190 13772257 + 13833886 13833953 + 18984615 100189442 AC090646;HG984037;NG_008498 TRNASUP4P APPROVED pseudo HGNC:35012 INFERRED 2300507 TRSUP-CTA3-1 transfer RNA suppressor (CTA) 3-1 14 14 14 q24.3 58739002 58739074 - 78700838 78700910 - 78234495 78234567 - 18984615 100189470 ABBA01030638;AF099810;AMYH02029588;HG984038;NG_008528 TRNASUP6P APPROVED pseudo HGNC:35043 INFERRED 2300897 TRSUP-TTA1-1 transfer RNA suppressor (TTA) 1-1 17;MT 17 q23.2 58863593 58863663 + 60786232 60786302 + 18984615 100189080 ABBA01035397;AC079005;AMYH02033729;HG984039 TRNASUP1 APPROVED trna HGNC:34640 MODEL 2300647 TRSUP-TTA2-1 transfer RNA suppressor (TTA) 2-1 MT 1 1 18984615 100189330 AF165138;HG984040 TRNASUP2 APPROVED trna HGNC:34897 2300524 TRSUP-TTA3-1 transfer RNA suppressor (TTA) 3-1 4 4 4 p16.1 7230916 7230987 - 7325838 7325909 - 7324111 7324182 - 18984615 100189453 ABBA01012744;AC080003;AMYH02008682;HG984041;NG_008509 TRNASUP5P APPROVED pseudo HGNC:35024 INFERRED 2300755 TRT-AGT1-2 transfer RNA-Thr (AGT) 1-2 17;MT 17 8129553 8129626 - 8226235 8226308 - 18984615 100189222 ABBA01054904;AC135178;AMYH02032923;HG984043 TRNAT9 APPROVED trna HGNC:34785 MODEL 2300971 TRT-AGT1-3 transfer RNA-Thr (AGT) 1-3 19;MT 19 33667963 33668036 + 33177057 33177130 + 18984615 100189006 ABBA01039618;AC008738;AMYH02035936;HG984044 TRNAT4 APPROVED trna HGNC:34563 MODEL 2300790 TRT-AGT1-1 transfer RNA-Thr (AGT) 1-1 17;MT 17 8090478 8090551 + 8187160 8187233 + 18984615 100189187 ABBA01054901;AC129492;AMYH02032922;HG984042 TRNAT8 APPROVED trna HGNC:34750 MODEL 2300658 TRT-AGT2-1 transfer RNA-Thr (AGT) 2-1 6;MT 6 26533145 26533218 - 26532917 26532990 - 18984615 100189319 ABBA01066557;AL121936;AMYH02013353;HG984045 TRNAT14 APPROVED trna HGNC:34886 MODEL 2300637 TRT-AGT2-2 transfer RNA-Thr (AGT) 2-2 6;MT 6 27652474 27652547 - 27684695 27684768 - 1457046;18984615;8344269 100189340 ABBA01038005;AL009179;AMYH02013387;HG984046;X64276 TRNAT15 APPROVED trna HGNC:34908 615309 MODEL 2300539 TRT-AGT4-1 transfer RNA-Thr (AGT) 4-1 17;MT 17 8042770 8042843 - 8139452 8139525 - 18984615 100189438 ABBA01054897;AC129492;AMYH02032920;HG984048 TRNAT22 APPROVED trna HGNC:35008 MODEL 2300544 TRT-AGT3-1 transfer RNA-Thr (AGT) 3-1 6;MT 6 28693795 28693868 + 28726018 28726091 + 18984615 100189433 ABBA01038025;AL390196;AL671879;AMYH02013398;BX088523;HG984047 TRNAT21 APPROVED trna HGNC:35003 MODEL 2300551 TRSUP-CTA1-1 transfer RNA suppressor (CTA) 1-1 MT 1 1 18984615 100189426 AC005517;HG984036 TRNASUP3 APPROVED trna HGNC:34995 2300603 TRT-AGT5-1 transfer RNA-Thr (AGT) 5-1 6;MT 6 27694473 27694546 + 27726694 27726767 + 18984615 100189374 ABBA01038008;AL009179;AMYH02013388;HG984049 TRNAT18 APPROVED trna HGNC:34942 MODEL 2300834 TRT-AGT6-1 transfer RNA-Thr (AGT) 6-1 6;MT 6 27130050 27130123 + 27162271 27162344 + 18984615 100189143 ABBA01037988;AL021807;AMYH02013376;HG984050 TRNAT7 APPROVED trna HGNC:34705 MODEL 1347971 TRT-AGT7-1 transfer RNA-Thr (AGT) 7-1 MT q24.1 1 1 18984615 7238 AC009994;HG984051 TRNAT3;TRT3 APPROVED trna HGNC:12352 2300942 TRT-CGT1-1 transfer RNA-Thr (CGT) 1-1 6;MT 6 28456770 28456843 - 28488993 28489066 - 18984615 100189035 ABBA01038019;AMYH02013394;HG984052;Z98745 TRNAT5 APPROVED trna HGNC:34594 MODEL 2300617 TRT-CGT3-1 transfer RNA-Thr (CGT) 3-1 6;MT 6 28615984 28616057 - 28648207 28648280 - 18984615 100189360 ABBA01038024;AL121932;AL671879;AMYH02013397;HG984054 TRNAT17 APPROVED trna HGNC:34928 MODEL 2300891 TRT-CGT2-1 transfer RNA-Thr (CGT) 2-1 16;MT 16 14379750 14379821 + 14285893 14285964 + 18984615 100189086 ABBA01006881;AC040173;AMYH02031538;HG984053 TRNAT6 APPROVED trna HGNC:34646 MODEL 2300732 TRT-CGT4-1 transfer RNA-Thr (CGT) 4-1 17;MT 17 29877093 29877164 + 31550074 31550145 + 18984615 100189245 ABBA01014957;AC003101;AMYH02033303;HG984055 TRNAT10 APPROVED trna HGNC:34808 MODEL 2300677 TRT-CGT5-1 transfer RNA-Thr (CGT) 5-1 6;MT 6 27586135 27586208 + 27618356 27618429 + 18984615 100189300 ABBA01038002;AL031229;AMYH02013384;HG984056 TRNAT13 APPROVED trna HGNC:34866 MODEL 2300719 TRT-CGT6-1 transfer RNA-Thr (CGT) 6-1 MT 1 1 18984615 100189258 AL021808;HG984057 TRNAT11 APPROVED trna HGNC:34821 2300633 TRT-TGT1-1 transfer RNA-Thr (TGT) 1-1 6;MT 6 28442329 28442402 - 28474552 28474625 - 18984615 100189344 ABBA01038019;AMYH02013394;HG984058;Z98745 TRNAT16 APPROVED trna HGNC:34912 MODEL 2300599 TRT-TGT2-1 transfer RNA-Thr (TGT) 2-1 1;MT 1 222638347 222638419 + 222465005 222465077 + 18984615 100189378 ABBA01048056;AL513314;AMYH02002747;HG984059 TRNAT19 APPROVED trna HGNC:34946 MODEL 2300558 TRT-TGT4-1 transfer RNA-Thr (TGT) 4-1 14;MT 14 21099319 21099391 - 20631160 20631232 - 18984615 100189419 ABBA01061233;AL163195;AMYH02028825;HG984061 TRNAT20 APPROVED trna HGNC:34988 MODEL 2300714 TRT-TGT5-1 transfer RNA-Thr (TGT) 5-1 14;MT 14 21149849 21149921 + 20681690 20681762 + 18984615 100189263 ABBA01061234;AL163636;AMYH02028826;HG984062 1717317 RH122149 TRNAT12 APPROVED trna HGNC:34826 MODEL 1345339 TRT-TGT3-1 transfer RNA-Thr (TGT) 3-1 14;MT 14 q11.2 21081949 21082021 - 20613790 20613862 - 18984615 7237 ABBA01061233;AL163195;AMYH02028825;HG984060 1783026 SHGC-142270 TRNAT2;TRT2 APPROVED trna HGNC:12351 189933 MODEL 1348963 TRU-TCA2-1 transfer RNA-SeC (TCA) 2-1 22 22;MT 22 q11 28460389 28460941 + 44546537 44546622 + 44150657 44150742 + 18984615;3156131 7235 ABBA01014595;AL031595;AMYH02038487;HG984005;K02924 TRNAU2;TRSP2;TRSPP1 APPROVED trna HGNC:12349 MODEL 1348605 TRT-TGT6-1 transfer RNA-Thr (TGT) 6-1 5;MT 5 q35.3 180618687 180618758 - 181191687 181191758 - 18984615;2613239;2676726 7236 ABBA01010095;AC008443;AMYH02012917;HG984063;M27834 TRNAT1;TRT1 trna threonine (ugu) 1 APPROVED trna HGNC:12350 189913 MODEL 2300988 TRU-TCA3-1 transfer RNA-SeC (TCA) 3-1 MT q21.1 1 1 18984615 100188989 AC068669;HG984006 1733478 D17S1246 TRNAU3 APPROVED trna HGNC:34525 8663190 TRUND-NNN1-1 transfer RNA-undetermined (NNN) 1-1 18984615 103482529 HG984090 pseudo HGNC:50813 8663375 TRUND-NNN10-1 transfer RNA-undetermined (NNN) 10-1 18984615 103482532 HG984099 pseudo HGNC:50822 1346955 TRUB2 TruB pseudouridine (psi) synthase family member 2 Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008] 9 9 9 q34.11 101722300 101735601 - 131071396 131084697 - 128309117 128322418 - 1580863;6480464;8554872 12477932;12736709;14702039;15164053;15489334;20186120;20360068;21890473;23251661;24778252;8619474;9110174 26995 O95900 ABBA01043875;ABBA01043876;AF131848;AJ420462;AK001956;AK301986;AL359091;AMYH02021710;AMYH02021711;BC001457;CH471090;NM_015679 AAD20059;AAH01457;ABM83082;ABM86277;BAA92001;BAH13601;EAW87770;EAW87771;EAW87772;EAW87773;NP_056494;O95900 Hs.632685 1697972;2158654;2158656;2158658;5127678 A005T04;G20474;RH102515;STS-F04536;WI-20444 CLONE24922;RP11-339B21.1 OTTHUMP00000022257;TruB pseudouridine (psi) synthase homolog 2;probable tRNA pseudouridine synthase 2 APPROVED protein-coding ENSG00000167112 HGNC:17170 18230 610727 PROVISIONAL 8663029 TRUND-NNN2-1 transfer RNA-undetermined (NNN) 2-1 18984615 103482523 HG984091 pseudo HGNC:50814 1318307 TRUB1 TruB pseudouridine (psi) synthase family member 1 Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008] 10 10 10 q25.3 110427071 110466559 + 116697952 116737439 + 114938193 114977680 + 6480464 12477932;12736709;15164054;15489334;16385451;19471022;21139048;21145461;21832049;23940030;24250222;24816145;8125298 142940 Q8WWH5 ABBA01062969;AF448144;AK026721;AK125554;AK223567;AK302800;AK312805;AL355340;AMYH02023858;BC030601;BX648479;BX648709;CH471066;NM_139169 AAH30601;AAL40350;ABM81813;ABM84969;BAD97287;BAG35663;BAG54213;BAG64002;CAH10560;EAW49463;NP_631908;Q8WWH5 Hs.21187 1655955;1672147;1676322;2115505 A004M41;RH66196;RH68108;STS-Z39556 PUS4 OTTHUMP00000020554;TruB pseudouridine (psi) synthase homolog 1;probable tRNA pseudouridine synthase 1 APPROVED protein-coding ENSG00000165832 HGNC:16060 18229 610726 VALIDATED 8663251 TRUND-NNN4-1 transfer RNA-undetermined (NNN) 4-1 18984615 103482530 HG984093 pseudo HGNC:50816 8663266 TRUND-NNN3-1 transfer RNA-undetermined (NNN) 3-1 18984615 103482527 HG984092 pseudo HGNC:50815 8663211 TRUND-NNN5-1 transfer RNA-undetermined (NNN) 5-1 18984615 103482524 HG984094 pseudo HGNC:50817 8663152 TRUND-NNN6-1 transfer RNA-undetermined (NNN) 6-1 18984615 103482525 HG984095 pseudo HGNC:50818 8663165 TRUND-NNN7-1 transfer RNA-undetermined (NNN) 7-1 18984615 103482531 HG984096 pseudo HGNC:50819 8663184 TRUND-NNN8-1 transfer RNA-undetermined (NNN) 8-1 18984615 103482528 HG984097 pseudo HGNC:50820 8663030 TRUND-NNN9-1 transfer RNA-undetermined (NNN) 9-1 18984615 103482526 HG984098 pseudo HGNC:50821 2300987 TRV-AAC1-2 transfer RNA-Val (AAC) 1-2 5;MT 5 180591154 180591226 + 181164154 181164226 + 18984615 100188990 ABBA01010093;AC008620;AMYH02012917;HG984101 2154150 116XA3 TRNAV5 APPROVED trna HGNC:34542 MODEL 2300659 TRV-AAC1-1 transfer RNA-Val (AAC) 1-1 3;MT 3 169490018 169490090 + 169772230 169772302 + 1457046;18984615;8344269 100189318 ABBA01058704;AC078802;AMYH02008100;HG984100;X64278 TRNAV24 APPROVED trna HGNC:34885 615310 MODEL 1347105 TRU-TCA1-1 transfer RNA-SeC (TCA) 1-1 Opal suppressor phosphoserine tRNAs are the only authentic, naturally occurring suppressor tRNAs in higher eukaryotes. The human genome contains a single opal suppressor phosphoserine tRNA gene, TRNAU1 (O'Neill et al., 1985 [PubMed 3156131]).[supplied by OMIM, Nov 2010] 19;MT 19 q13.2-q13.3 45981860 45981945 - 45478602 45478687 - 6480464 1395717;18984615;3156131 7234 ABBA01040931;AC138534;AMYH02036200;HG984004;K02923 TRNAU1;TRSP;tRNA(Sec) transfer RNA selenocysteine/phosphoserine (opal suppressor);trna phosphoserine (opal suppressor) APPROVED trna HGNC:12348 165060 MODEL 2300985 TRV-AAC2-1 transfer RNA-Val (AAC) 2-1 5;MT 5 180615416 180615488 - 181188416 181188488 - 18984615 100188992 ABBA01010095;AC008443;AMYH02012917;HG984105 TRNAV10 APPROVED trna HGNC:34543 MODEL 1351363 TRV-AAC1-4 transfer RNA-Val (AAC) 1-4 There appear to be about 1,300 tRNA genes in the human genome (Hatlen and Attardi, 1971 [PubMed 4929578]). Arnold et al. (1986) [PubMed 3023191] detected a minimum of 13 valine tRNA genes in genomic blots of human DNA.[supplied by OMIM, Sep 2009] 5;MT 5 q35.3 180645270 180645342 - 181218270 181218342 - 18984615;2766931;3023191;4929578 7239 ABBA01010096;AC008443;AMYH02012917;HG984103;M33940 TRNAV1;TRV;TRV1 trna valine 1 APPROVED trna HGNC:12353 189921 MODEL 1344675 TRV-AAC1-3 transfer RNA-Val (AAC) 1-3 5;MT 5 180596610 180596682 + 181169610 181169682 + 18984615 7241 ABBA01010093;AC008620;AMYH02012917;HG984102 TRNAV3;TRV3 APPROVED trna HGNC:12355 MODEL 1604662 TRV-AAC1-5 transfer RNA-Val (AAC) 1-5 6;MT 6 p22.1 27721179 27721251 - 27753400 27753472 - 18984615;3023191 791230 ABBA01038010;AL009179;AMYH02013388;HG984104;M15782 1854043;2183935;2186733 D6S2284;D6S2285;D6S2286 HtV1;TRNAV7;TRV7 APPROVED trna HGNC:33246 MODEL 2300963 TRV-AAC5-1 transfer RNA-Val (AAC) 5-1 6;MT 6 27203288 27203360 + 27235509 27235581 + 1457046;18984615;8344269 100189014 ABBA01037991;AL021808;AMYH02013380;HG984108;X64279 TRNAV12 APPROVED trna HGNC:34573 615307 MODEL 2300816 TRV-AAC4-1 transfer RNA-Val (AAC) 4-1 6;MT 6 27648885 27648957 - 27681106 27681178 - 1457046;18984615;8344269 100189161 AL009179;AMYH02013387;HG984107;X64277 TRNAV17 APPROVED trna HGNC:34723 615308 MODEL 1604661 TRV-AAC3-1 transfer RNA-Val (AAC) 3-1 6;MT 6 p22.1 27618707 27618779 - 27650928 27651000 - 18984615;3023191 791231 ABBA01038004;AL031229;AMYH02013384;HG984106;M15783 1733634 D6S1002 HtV2;TRNAV8;TRV8 APPROVED trna HGNC:33247 MODEL 2300573 TRV-AAC7-1 transfer RNA-Val (AAC) 7-1 MT 1 1 18984615 100189404 AL390718;HG984110 TRNAV30 APPROVED trna HGNC:34973 2300799 TRV-AAC6-1 transfer RNA-Val (AAC) 6-1 6;MT 6 28703206 28703277 - 28735429 28735500 - 18984615 100189178 ABBA01038025;AL662890;AL671879;AMYH02013400;BX088523;HG984109 TRNAV18 APPROVED trna HGNC:34740 MODEL 2300604 TRV-CAC1-1 transfer RNA-Val (CAC) 1-1 1;MT 1 161369490 161369562 - 161399700 161399772 - 18984615 100189373 ABBA01016589;AC243898;AL592295;HG984111 TRNAV29 APPROVED trna HGNC:34941 MODEL 1347207 TRV-CAC1-2 transfer RNA-Val (CAC) 1-2 5;MT 5 q35.3 180524070 180524142 + 181097070 181097142 + 18984615 7240 ABBA01010090;AC008620;AMYH02012916;HG984112 TRNAV2;TRV2 APPROVED trna HGNC:12354 612995 MODEL 1604660 TRV-CAC1-3 transfer RNA-Val (CAC) 1-3 5;MT 5 q35.3 180529253 180529325 - 181102253 181102325 - 18984615;3023191 791232 AC008620;AMYH02012917;HG984113;M15784 HtV3;TRNAV9;TRV9 APPROVED trna HGNC:33248 MODEL 2300436 TRV-CAC1-4 transfer RNA-Val (CAC) 1-4 5;MT 5 180600650 180600722 + 181173650 181173722 + 18984615 100189541 ABBA01010093;AC008620;AMYH02012917;HG984114 TRNAV4 APPROVED trna HGNC:34541 MODEL 1642404 TRV-CAC1-5 transfer RNA-Val (CAC) 1-5 5;MT 5 q35.3 180649395 180649467 - 181222395 181222467 - 18984615;2766931 100049614 ABBA01010096;AC008443;AMYH02012917;HG984115;M33940 TRNAV6;TRV6 APPROVED trna HGNC:33245 MODEL 2300750 TRV-CAC1-6 transfer RNA-Val (CAC) 1-6 6;MT 6 26538282 26538354 + 26538054 26538126 + 1457046;18984615;2585499;8344269 100189227 ABBA01066557;AL121936;AMYH02013353;HG984116;X17517;X64282 TRNAV21 APPROVED trna HGNC:34790 615306 MODEL 2300498 TRV-CAC11-2 transfer RNA-Val (CAC) 11-2 1 1 p36.13 17186693 17186765 + 16860198 16860270 + 18984615 100189479 AMYH02000387;BX284668;HG984127;NG_008537 TRNAV34P APPROVED pseudo HGNC:35052 INFERRED 8663051 TRV-CAC11-1 transfer RNA-Val (CAC) 11-1 MT 1 1 18984615 103456510 HG984126 TRNAV39 trna HGNC:38578 9586214 TRV-CAC10-1 transfer RNA-Val (CAC) 10-1 18984615 100873876 HG984125 TRNAV38 trna HGNC:38576 2300477 TRV-CAC13-1 transfer RNA-Val (CAC) 13-1 1 1 1 p36.13 253 325 - 17052061 17052133 + 16725566 16725638 + 18984615 100189500 ABBA01124276;AL021920;AMYH02000384;HG984129;NG_008558 1692214 AL033762 TRNAV36P APPROVED pseudo HGNC:35075 INFERRED 2300904 TRV-CAC12-1 transfer RNA-Val (CAC) 12-1 MT 1 1 18984615 100189073 AL009179;HG984128 TRNAV14 APPROVED trna HGNC:34632 2300500 TRV-CAC14-1 transfer RNA-Val (CAC) 14-1 20 20 20 q13.12 40659529 40659601 + 43951001 43951073 + 45322361 45322433 + 18984615 100189477 ABBA01052660;AL021578;AMYH02037149;HG984130;NG_008535 TRNAV33P APPROVED pseudo HGNC:35050 INFERRED 2300651 TRV-CAC4-1 transfer RNA-Val (CAC) 4-1 1;MT 1 149298555 149298627 - 143803994 143804066 - 18984615 100189326 AC239800;AL356957;HG984119 1687844;1692214 AL033762;RH80349 TRNAV25 APPROVED trna HGNC:34893 MODEL 2300614 TRV-CAC2-1 transfer RNA-Val (CAC) 2-1 6;MT 6 27248049 27248121 - 27280270 27280342 - 18984615 100189363 ABBA01037992;AL021808;AMYH02013380;HG984117 2189669 D6S2219 TRNAV27 APPROVED trna HGNC:34931 MODEL 2300749 TRV-CAC5-1 transfer RNA-Val (CAC) 5-1 1;MT 1 149684088 149684161 - 149712552 149712624 - 18984615 100189228 AC243772;AL358813;HG984120 1687844;1692214 AL033762;RH80349 TRNAV22 APPROVED trna HGNC:34791 MODEL 2300835 TRV-CAC8-1 transfer RNA-Val (CAC) 8-1 1;MT 1 149294666 149294736 - 143800041 143800111 - 18984615 100189142 AC239800;AL356957;HG984123 1751699 SHGC-105732 TRNAV16 APPROVED trna HGNC:34704 MODEL 2300609 TRV-CAC6-1 transfer RNA-Val (CAC) 6-1 6;MT 6 27173867 27173939 - 27206088 27206160 - 18984615 100189368 ABBA01037989;AL121934;AMYH02013378;HG984121 TRNAV28 APPROVED trna HGNC:34936 MODEL 2300561 TRV-CAC3-1 transfer RNA-Val (CAC) 3-1 19;MT 19 4724647 4724719 - 4724635 4724707 - 1457046;18984615;2585499;8344269 100189416 ABBA01056049;AC005783;AMYH02035298;HG984118;X17515;X64281 TRNAV32 APPROVED trna HGNC:34985 615304 MODEL 2300876 TRV-CAC7-1 transfer RNA-Val (CAC) 7-1 6;MT 6 27696327 27696399 - 27728548 27728620 - 18984615 100189101 ABBA01038008;AL009179;AMYH02013388;HG984122 2184449 D6S2287 TRNAV15 APPROVED trna HGNC:34662 MODEL 2300781 TRV-CAC9-1 transfer RNA-Val (CAC) 9-1 6;MT 6 27118022 27118094 + 27150243 27150315 + 18984615 100189196 ABBA01037988;AL021807;AMYH02013376;HG984124 TRNAV20 APPROVED trna HGNC:34759 MODEL 1352535 TRVP2 tRNA valine pseudogene 2 1457046 7243 HGNC:12357 2300984 TRV-TAC1-1 transfer RNA-Val (TAC) 1-1 11;MT 11 59318102 59318174 - 59550629 59550701 - 18984615 100188993 ABBA01021502;AMYH02024864;AP003778;HG984131 TRNAV11 APPROVED trna HGNC:34544 MODEL 1343325 TRVP1 tRNA valine (CAC) pseudogene 1 1457046 7242 HGNC:12356 2300786 TRV-TAC1-2 transfer RNA-Val (TAC) 1-2 MT;X X 18693029 18693101 - 18674909 18674981 - 18984615 100189191 ABBA01071669;AMYH02038953;HG984132;Z94056 TRNAV19 APPROVED trna HGNC:34754 MODEL 2300635 TRV-TAC3-1 transfer RNA-Val (TAC) 3-1 10;MT 10 5895674 5895746 - 5853711 5853783 - 18984615 100189342 ABBA01034771;AL596094;AMYH02022049;HG984134 TRNAV26 APPROVED trna HGNC:34910 MODEL 2300694 TRV-TAC2-1 transfer RNA-Val (TAC) 2-1 11;MT 11 59318460 59318532 - 59550987 59551059 - 18984615 100189283 ABBA01021502;AMYH02024864;AP003778;HG984133 TRNAV23 APPROVED trna HGNC:34849 MODEL 2300569 TRV-TAC4-1 transfer RNA-Val (TAC) 4-1 6;MT 6 27258405 27258477 + 27290626 27290698 + 18984615 100189408 ABBA01037992;AL021808;AMYH02013380;HG984135 TRNAV31 APPROVED trna HGNC:34977 MODEL 1348632 TRVP3 tRNA valine pseudogene 3 1457046 7244 HGNC:12358 1345860 TRVP4 tRNA valine (AAC) pseudogene 4 1457046 7245 HGNC:12359 2300854 TRW-CCA1-1 transfer RNA-Trp (CCA) 1-1 17;MT 17 8124187 8124258 - 8220869 8220940 - 18984615 100189123 ABBA01054904;AC135178;AMYH02032923;HG984064 TRNAW4 APPROVED trna HGNC:34685 MODEL 2300774 TRW-CCA2-1 transfer RNA-Trp (CCA) 2-1 17;MT 17 19411494 19411565 + 19508181 19508252 + 18984615 100189203 ABBA01054606;AC004448;AMYH02033166;HG984065 TRNAW7 APPROVED trna HGNC:34766 MODEL 2300865 TRW-CCA3-1 transfer RNA-Trp (CCA) 3-1 17;MT 17 8089676 8089747 + 8186358 8186429 + 18984615 100189112 ABBA01054901;AC129492;AMYH02032922;HG984066 TRNAW3 APPROVED trna HGNC:34674 MODEL 2300541 TRW-CCA3-2 transfer RNA-Trp (CCA) 3-2 6;MT 6 26319330 26319401 - 26319102 26319173 - 18984615 100189436 ABBA01066554;AL021917;AMYH02013350;HG984067 TRNAW9 APPROVED trna HGNC:35006 MODEL 2300929 TRW-CCA3-3 transfer RNA-Trp (CCA) 3-3 6;MT 6 26331672 26331743 - 26331444 26331515 - 18984615 100189048 ABBA01066554;AL021917;AMYH02013350;HG984068 TRNAW2 APPROVED trna HGNC:34607 MODEL 2300806 TRW-CCA4-1 transfer RNA-Trp (CCA) 4-1 12;MT 12 98898030 98898101 + 98504252 98504323 + 18984615 100189171 ABBA01053288;AC013418;AMYH02027037;HG984069 TRNAW5 APPROVED trna HGNC:34733 MODEL 2300787 TRW-CCA5-1 transfer RNA-Trp (CCA) 5-1 7;MT 7 99067307 99067378 + 99469684 99469755 + 18984615 100189190 ABBA01013261;AC073063;AMYH02016360;HG984070 TRNAW6 APPROVED trna HGNC:34753 MODEL 2300668 TRW-CCA6-1 transfer RNA-Trp (CCA) 6-1 MT 1 1 100189309 AL139041;HG984071 TRNAW8 APPROVED trna HGNC:34876 1345720 TRW-CCA7-1 transfer RNA-Trp (CCA) 7-1 MT p11.2 1 1 18984615 7246 AC103681;HG984072 TRNAW1;TRW APPROVED trna HGNC:12360 2300962 TRX-CAT1-1 transfer RNA-iMet (CAT) 1-1 1;MT 1 153643726 153643797 + 153671250 153671321 + 18984615 100189015 ABBA01049443;AL713889;AMYH02001904;HG984136 TRNAM3 APPROVED trna HGNC:34574 MODEL 2300722 TRX-CAT1-2 transfer RNA-iMet (CAT) 1-2 17;MT 17 80452597 80452668 - 82494721 82494792 - 18984615 100189255 ABBA01019682;AC124287;AMYH02034158;HG984137 TRNAM14 APPROVED trna HGNC:34818 MODEL 1345406 TRX-CAT1-3 transfer RNA-iMet (CAT) 1-3 6;MT 6 p22.1 26286754 26286825 + 26286526 26286597 + 18984615;6261953;6308668;8661117 7210 ABBA01066554;AL021917;AMYH02013350;HG984138;J00311;Z69292 RNTMI1;RNTMI2;RNTMT1;TRM1;TRM2;TRMI2;TRNAM1;TRNAMI2 trna methionine 1 APPROVED trna HGNC:12318 180621 MODEL 2300883 TRX-CAT1-4 transfer RNA-iMet (CAT) 1-4 6;MT 6 26313352 26313423 - 26313124 26313195 - 18984615 100189094 ABBA01066554;AL021917;AMYH02013350;HG984139 2150664 D6S2292 TRNAM6 APPROVED trna HGNC:34655 MODEL 2300937 TRX-CAT1-5 transfer RNA-iMet (CAT) 1-5 6;MT 6 26330529 26330600 - 26330301 26330372 - 18984615 100189040 ABBA01066554;AL021917;AMYH02013350;HG984140 TRNAM4 APPROVED trna HGNC:34599 MODEL 2300680 TRX-CAT1-7 transfer RNA-iMet (CAT) 1-7 6;MT 6 27560600 27560671 - 27592821 27592892 - 18984615 100189297 ABBA01038000;AL021918;AMYH02013383;HG984142 TRNAM15 APPROVED trna HGNC:34863 MODEL 2300632 TRX-CAT1-6 transfer RNA-iMet (CAT) 1-6 6;MT 6 27300764 27300835 - 27332985 27333056 - 18984615 100189345 ABBA01037993;AL021808;AMYH02013382;HG984141 2133278 D6S2332 TRNAM18 APPROVED trna HGNC:34913 MODEL 2300662 TRX-CAT1-8 transfer RNA-iMet (CAT) 1-8 6;MT 6 27870271 27870342 - 27902493 27902564 - 18984615 100189315 ABBA01038011;AMYH02013390;HG984143;Z98744 TRNAM17 APPROVED trna HGNC:34882 MODEL 2300791 TRX-CAT3-1 transfer RNA-iMet (CAT) 3-1 MT 1 1 18984615 100189186 AL391834;HG984145 TRNAM10 APPROVED trna HGNC:34749 1346477 TRX-CAT2-1 transfer RNA-iMet (CAT) 2-1 Santos and Zasloff (1981) [PubMed 6261953] identified 12 initiator methionine tRNA genes, symbolized tRNA-i(met), in the haploid human genome. Zasloff et al. (1982) [PubMed 6923137] found a variant tRNA-i(met) with a G-to-T transversion in the highly conserved TCGA sequence in loop 4, a sequence position occupied exclusively by a purine (usually G) in almost 200 prokaryotic and eukaryotic tRNAs. One functional consequence of this base substitution is reduction in the rate of processing of the primary transcript of the gene. A second, demonstrated by microinjection into the germinal vesicle of the intact Xenopus laevis oocyte, is blockage of egress from the nucleus. It has been estimated that the human haploid genome contains 1,000 to 2,000 tRNA genes and that there are 50 to 60 chromatographically distinct tRNA species. These observations suggest redundancy of some tRNA genes. The studies of initiator methionine tRNA genes bear out this suspicion.[supplied by OMIM, Sep 2009] 6;MT 6 p22.1 27745664 27745735 + 27777885 27777956 + 18984615;6261953;6308668;6923137 7212 ABBA01038011;AL009179;AMYH02013388;HG984144;J00310 2156415 RH71009 RNTMI;RNTMI2;TRM1;TRMI1;TRNAM2;TRNAMI1;TRNAMI2 transfer RNA methionine initiator 1 (anticodon CAU);trna methionine initiator 1 APPROVED trna HGNC:12322 180620 MODEL 2300724 TRY-ATA1-1 transfer RNA-Tyr (ATA) 1-1 2;MT 2 219110549 219110641 + 218245826 218245918 + 100189253 AC097483;HG984073 TRNAY9 APPROVED trna HGNC:34816 MODEL 2300705 TRY-GTA1-1 transfer RNA-Tyr (GTA) 1-1 6;MT 6 26569086 26569176 + 26568858 26568948 + 100189272 ABBA01066558;AL121936;AMYH02013354;HG984074 TRNAY10 APPROVED trna HGNC:34835 MODEL 2300699 TRY-GTA10-1 transfer RNA-Tyr (GTA) 10-1 MT 1 1 18984615 100189278 AC004932;HG984087 TRNAY11 APPROVED trna HGNC:34842 2300470 TRY-GTA11-1 transfer RNA-Tyr (GTA) 11-1 7 7 7 q36.1 143722936 143723011 - 149053745 149053820 - 149356654 149356729 - 18984615 100189507 ABBA01033629;AC004941;AMYH02017046;HG984088;NG_008565 2122962 GDB:1317768 TRNAY17P APPROVED pseudo HGNC:35082 INFERRED 2300481 TRY-GTA12-1 transfer RNA-Tyr (GTA) 12-1 15 15 15 q26.1 68664525 68664597 - 92254302 92254374 - 91711072 91711144 - 18984615 100189496 ABBA01053080;AC105109;AMYH02031065;HG984089;NG_008554 TRNAY16P APPROVED pseudo HGNC:35071 INFERRED 2300955 TRY-GTA2-1 transfer RNA-Tyr (GTA) 2-1 2;MT 2 27273650 27273738 + 27050782 27050870 + 100189022 ABBA01045192;AC013472;AMYH02003471;HG984075 TRNAY4 APPROVED trna HGNC:34581 MODEL 2300572 TRY-GTA4-1 transfer RNA-Tyr (GTA) 4-1 14;MT 14 21125623 21125716 - 20657464 20657557 - 100189405 ABBA01061234;AL163636;AMYH02028826;HG984077 TRNAY13 APPROVED trna HGNC:34974 MODEL 2300553 TRY-GTA5-1 transfer RNA-Tyr (GTA) 5-1 14;MT 14 21121258 21121351 - 20653099 20653192 - 100189424 ABBA01061234;AL163636;AMYH02028826;HG984078 TRNAY14 APPROVED trna HGNC:34993 MODEL 2300815 TRY-GTA3-1 transfer RNA-Tyr (GTA) 3-1 6;MT 6 26577332 26577420 + 26577104 26577192 + 100189162 ABBA01066558;AL121936;AMYH02013354;HG984076 TRNAY7 APPROVED trna HGNC:34724 MODEL 1605136 TRY-GTA5-2 transfer RNA-Tyr (GTA) 5-2 14;MT 14 q11.2 21131351 21131444 - 20663192 20663285 - 3636257 100009602 ABBA01061234;AL163636;AMYH02028826;HG984079;M27548 TRNAY2;Tyr-tRNA APPROVED trna HGNC:33250 MODEL 2300976 TRY-GTA5-3 transfer RNA-Tyr (GTA) 5-3 14;MT 14 21151432 21151520 + 20683273 20683361 + 100189001 ABBA01061234;AL163636;AMYH02028826;HG984080 1717317 RH122149 TRNAY3 APPROVED trna HGNC:34558 MODEL 2300540 TRY-GTA5-4 transfer RNA-Tyr (GTA) 5-4 8;MT 8 67025602 67025694 + 66113367 66113459 + 100189437 ABBA01041869;AC084082;AMYH02018106;HG984081 TRNAY15 APPROVED trna HGNC:35007 MODEL 2300875 TRY-GTA5-5 transfer RNA-Tyr (GTA) 5-5 8;MT 8 67026223 67026311 + 66113988 66114076 + 100189102 ABBA01041869;AC084082;AMYH02018106;HG984082 TRNAY6 APPROVED trna HGNC:34663 MODEL 2300758 TRY-GTA6-1 transfer RNA-Tyr (GTA) 6-1 6;MT 6 26595102 26595190 + 26594874 26594962 + 100189219 ABBA01066559;AL513548;AMYH02013354;HG984083 TRNAY8 APPROVED trna HGNC:34782 MODEL 2300640 TRY-GTA8-1 transfer RNA-Tyr (GTA) 8-1 6;MT 6 26575798 26575887 + 26575570 26575659 + 100189337 ABBA01066558;AL121936;AMYH02013354;HG984085 2166732 D6S2355 TRNAY12 APPROVED trna HGNC:34905 MODEL 2300920 TRY-GTA9-1 transfer RNA-Tyr (GTA) 9-1 MT 1 1 100189057 AC055822;HG984086 TRNAY5 APPROVED trna HGNC:34616 1605137 TRY-GTA7-1 transfer RNA-Tyr (GTA) 7-1 14;MT 14 q11.2 21128117 21128210 - 20659958 20660051 - 3636257 100009601 ABBA01061234;AL163636;AMYH02028826;HG984084;M27547 TRNAY1;Tyr-tRNA APPROVED trna HGNC:33249 MODEL 1604756 TSACC TSSK6 activating co-chaperone ENCODES a protein that exhibits chaperone binding; FOUND IN cytoplasm (inferred); INTERACTS WITH benzo[a]pyrene; cadmium dichloride (ortholog) 1 1 1 q22 129380041 129389722 + 156307105 156316786 + 156337314 156346995 + 6480464 12477932;15489334;16189514;16710414;20139978;20829357;23455924;24250222 128229 Q96A04;V9GYT6 ABBA01016662;AK311950;AL589685;AMYH02001971;AY048672;AY048673;BC014605;CH471121;NM_144627 AAH14605;AAL07513;AAL07514;ABM82179;ABM85365;EAW52964;EAW52965;EAW52966;NP_653228;Q96A04 Hs.534539 C1orf182;MGC26877;RP11-443G18.5;SIP;SSTK-IP OTTHUMP00000025730;OTTHUMP00000025733;SSTK-interacting protein;SSTK-interacting protein (SSTK-IP);TSSK6-activating co-chaperone protein;uncharacterized protein C1orf182 APPROVED protein-coding ENSG00000163467 HGNC:30636 10252 PROVISIONAL 736947 TSC1 tuberous sclerosis 1 This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 9 9 9 q34 106308473 106361761 - 135766735 135820094 - 132891348 132944707 - 1624197;1625616;1624196;1580863;2308795;6480464;6484113;6907045;7240710;8554872;8699517 15380067;16885148;19339977;9242607 10227394;10533067;10570911;10585443;10607950;10806479;10807585;10915759;11112665;11175345;11290735;11307618;11444800;11686512;11741832;11741833;11774213;11829138;12015165;12062115;12112044;12147258;12167664;12176984;12226091;12271141;12477932;12511557;12766909;12773159;12773162;12773163;12820960;12853839;12869586;12894220;14551205;14559897;14633685;14651849;14680818;14756965;14985384;15059224;15072102;15314020;15324660;15340059;15342917;15355997;15477556;15589136;15595939;15624760;15647351;15798777;15851026;15851513;15963462;16211238;16258273;16339216;16344560;16424383;16464865;16554133;16636147;16897363;16909113;16940165;16996505;17043358;17077083;17114181;17273797;17287951;17304050;17308101;17355907;17376623;17378684;17522300;17658474;17693255;17717601;17979178;17997379;18032745;18342602;18368626;18381890;18397877;18411301;18413730;18480009;18538015;18772611;18794342;18794346;18830229;18926585;19005330;19058789;19169254;19175396;19357198;19419980;19422538;19608861;19747374;19918125;19966866;20146692;20166753;20185476;20301399;20368287;20371605;20383465;20453000;20547222;20562859;20605525;20658316;20819778;20877415;21048031;21243421;21309039;21329690;21345208;21412983;21449900;21559457;21709159;21712385;21784859;21906983;22025691;22161988;22490766;22608477;22795129;22903760;22923433;23169238;23254740;23275563;23389244;23401075;23455924;23788249;23793025;23846400;23851502;23857276;23878397;23891004;24073910;24615476;24722188;9039502;9328481;9580671;9803264;9809973;9924605 7248 B7Z604;Q32NF0;Q86WV8;Q92574;X5D9D2 AA215977;AB190910;ABBA01032478;ABBA01032479;AF013168;AF234185;AF274228;AF274229;AK297326;AK299654;AK303030;AK308412;AL445645;AMYH02021817;AMYH02021818;AMYH02021819;BC047772;BC070032;BC108668;BC121000;BI463204;CH471090;D87683;DA726552;KJ534953;N63914;NG_012386;NM_000368;NM_001162426;NM_001162427;XM_005272211;XM_006717271;XM_006717272 AAC51674;AAF61948;AAH47772;AAH70032;AAI08669;AAI21001;AAI67824;AAK60415;AAK60416;AHW56593;BAA13436;BAD91314;BAH12548;BAH13090;BAH13883;EAW88021;NP_000359;NP_001155898;NP_001155899;Q92574;XP_005272268;XP_006717334;XP_006717335 Hs.370854 1683213;1757157;1793000;1857768;1857770;2107719;2120840;2162036;2186060 D9S1916;D9S2005;PMC18172P1;RH35815;RH98742;SHGC-144586;STS-D87683;STS-H11389;TSC1__5147 KIAA0243;LAM;MGC86987;TSC OTTHUMP00000022439;OTTHUMP00000198378;hamartin;tuberous sclerosis 1 protein;tumor suppressor APPROVED protein-coding ENSG00000165699 HGNC:12362 05594 191100;605284;606690;607341 REVIEWED 5687462 TSC22D1-AS1 TSC22D1 antisense RNA 1 INTERACTS WITH (+)-catechin 13 13 13 q14.11 26206108 26210647 + 45150032 45154568 + 44575896 44580432 + 12477932 641467 ABBA01021232;AL356107;AMYH02027954;BC036219;BC040675;LK938507;NG_029852;NR_038381 Hs.624196 5022200 L18426 APPROVED ncrna ENSG00000278156 HGNC:43684 VALIDATED 1601955 TSC22D4 TSC22 domain family, member 4 TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM, Mar 2008] 7 7 7 p21-p15 94793941 94806701 - 100064142 100076902 - 100466519 100479279 - 6480464;8554872 10488076;11707329;12477932;12508107;12690205;15489334;16189514;16713569;18029348;19615732;20149264;21059936;21988832;23382044;24722188 81628 H7BZ77;H7C0M8;Q9Y3Q8 ABBA01013210;AC092849;AJ133115;AK296580;AK297702;AK314824;AMYH02016380;BC001486;BC001966;BC002972;BC010406;BC011974;BC031622;CH236956;CH471091;NM_030935 AAH01486;AAH01966;AAH02972;AAH10406;AAH31622;ABM82194;ABW03368;BAG59200;BAG60060;CAB43491;EAL23831;EAW76527;EAW76528;EAW76529;EAW76531;NP_112197;Q9Y3Q8 Hs.469798 1658827;2157572 RH11690;RH65683 THG-1;THG1;TILZ2 OTTHUMP00000196701;OTTHUMP00000196702;TSC22 domain family 4;TSC22 domain family protein 4;TSC22-related-inducible leucine zipper protein 2;tsc-22-like protein THG-1 APPROVED protein-coding ENSG00000166925 HGNC:21696 18231 611914 PROVISIONAL 1354310 TSC3 tuberous sclerosis 3 7250 HGNC:12364 1602336 TSC22D2 TSC22 domain family, member 2 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); response to osmotic stress (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; arsenous acid 3 3 3 q25.1 148539824 148590663 + 150126101 150177906 + 150408314 150460119 + 6480464 12477932;12665801;15489334;18029348;20149264;21890473;21906983;22479202;23382044;9734811 9819 H0Y865;H0Y8E9;H7C4U3;O75157 AB014569;ABBA01058926;ABBA01058927;AC018545;AF201290;AF201291;AF201292;AK297383;AK297748;AMYH02007889;BC036355;BC044643;CH471052;NM_014779;XM_005247920;XR_427388 AAG41223;AAG41224;AAG41225;AAH44643;BAA31644;BAG59824;BAG60098;EAW78837;EAW78838;EAW78839;EAW78840;EAW78841;NP_055594;O75157;XP_005247977 Hs.722470;Hs.730710 1666282;1679043;1775100;2121530;2139372;5094789 AAT071;D20S995;SHGC-57438;SHGC-77462;SHGC-77469;STS-D20422 KIAA0669;TILZ4a;TILZ4b;TILZ4c OTTHUMP00000216356;OTTHUMP00000216357;TSC22 domain family 2;TSC22 domain family protein 2;TSC22-related-inducible leucine zipper protein 4 protein-coding HGNC:29095 11101 PROVISIONAL 1605734 TSC22D3 TSC22 domain family, member 3 The protein encoded by this gene shares significant sequence identity with the murine TSC-22 and Drosophila shs, both of which are leucine zipper proteins, that function as transcriptional regulators. The expression of this gene is stimulated by glucocorticoids and interleukin 10, and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid and chemokine. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] X X X q22.3 107427403 107489966 - 106956451 107020559 - 107713221 107777329 - 6480464 11230166;11313722;11397794;11468175;11688842;12391160;12393603;12477932;12671681;14702039;15031210;15489334;15705665;16189514;16196087;16216878;17356131;17956870;18468809;18499442;19260870;19322201;19380724;19814803;19875485;20018851;20124407;20671745;20947508;20970683;21512757;21556028;21726808;21750716;21804606;21906983;21988832;22137507;22539300;22832853;23440419;23494955;23573276;23650723;23729444;8619474;8982256;9110174 1831 D6R8Z7;D6R9J1;D6RAX8;D6RBL1;D6RCK9;D6RD37;D6RD92;D6RDZ7;D6RDZ9;E7EWD5;Q5JRJ0;Q5JRJ2;Q99576 AB025432;ABBA01035929;ABBA01035930;ABBA01035931;ABBA01035932;ABBA01035933;ABBA01035934;ABBA01035935;AF153603;AF183393;AF228339;AK092645;AK092669;AK127938;AK300535;AK311834;AL110191;AL590423;AMYH02040217;AMYH02040218;AY007119;BC018148;BC072446;BM047061;BQ919216;BX647854;CH471120;CR533450;CR933650;KF459299;NM_001015881;NM_004089;NM_198057;XM_005262098;XM_005262099;XM_005262100;XM_005262101;XM_005262102;XM_005262103;XM_006724629;Z50781 AAD41085;AAD56234;AAG12456;AAH18148;AAH72446;ACE86573;ACE87256;BAB18680;BAC03934;BAG34776;BAG52587;BAG54599;BAG62243;CAA90644;CAB53669;CAG38481;CAI45951;EAX02704;EAX02705;EAX02706;EAX02707;EAX02708;NP_001015881;NP_004080;NP_932174;Q99576;XP_005262155;XP_005262156;XP_005262157;XP_005262158;XP_005262159;XP_005262160;XP_006724692 Hs.522074 1658324;1849351;2141431 A002D16;RH18204;WI-18699 DIP;DKFZp313A1123;GILZ;TSC-22R;hDIP DSIP-immunoreactive leucine zipper protein;DSIP-immunoreactive peptide;DSIPI;OTTHUMP00000023810;OTTHUMP00000023811;OTTHUMP00000023813;OTTHUMP00000023814;OTTHUMP00000217940;OTTHUMP00000217948;OTTHUMP00000217950;OTTHUMP00000217951;TSC-22 related protein;TSC-22-like protein;TSC-22-related protein;TSC22 domain family protein 3;delta sleep inducing peptide, immunoreactor;delta sleep-inducing peptide immunoreactor;glucocorticoid-induced leucine zipper protein APPROVED protein-coding ENSG00000157514 HGNC:3051 04266 300506 REVIEWED 1318440 TSEN15 TSEN15 tRNA splicing endonuclease subunit This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by RefSeq, Jul 2014] 1 1 1 q25 157131745 157154281 + 184020811 184043346 + 184051657 184074212 + 6480464 11318611;12477932;14702039;15109492;15231747;15231748;15489334;16189514;16341674;16712791;17166513;17207965;18391951;20360068;20546612;20881960;21139048;24944287 116461 B1ALV0;E9PPN1;F2Z3M0;H0YCV5;Q8WW01 ABBA01027742;AF288394;AK098196;AK296655;AK307241;AL157943;AL158011;AMYH02002288;AMYH02002289;BC022030;BG285158;BI821111;BM146150;BM789892;BM887891;BP326115;BU195337;CB158796;CH471067;NM_001127394;NM_001300764;NM_001300766;NM_052965;NR_023349;NR_125335;XM_006711148;XM_006711149;XM_006711150 AAG60614;AAH22030;ADQ33166;BAG53590;BAG59252;EAW91173;EAW91174;EAW91175;NP_001120866;NP_001287693;NP_001287695;NP_443197;Q8WW01;XP_006711211;XP_006711212;XP_006711213 Hs.548197 1689602;1710648;1776579 RH65755;RH98331;SHGC-81038 C1orf19;sen15 OTTHUMP00000033516;OTTHUMP00000228759;OTTHUMP00000228760;OTTHUMP00000228761;OTTHUMP00000228762;SEN15 homolog;hsSen15;tRNA splicing endonuclease 15 homolog;tRNA-intron endonuclease Sen15;tRNA-splicing endonuclease subunit Sen15 APPROVED protein-coding ENSG00000198860 HGNC:16791 12292 608756 REVIEWED 6483759 TSEN15P1 TSEN15 tRNA splicing endonuclease subunit pseudogene 1 17 17 17 p11.2 18299037 18299885 + 17359741 17360570 + 17456427 17457256 + 100288179 ABBA01009760;AC073621;AMYH02033089;NG_030099 APPROVED pseudo HGNC:43962 INFERRED 1604401 TSC22D1 TSC22 domain family, member 1 This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] 13 13 13 q14 26063743 26206780 - 45006279 45150701 - 44432143 44577147 - 6480464;8554872 10488076;11095965;11836610;11944908;12056414;12468551;12477932;12757981;12767908;14702039;15146197;15174051;15489334;1587811;15881652;16106424;16169070;16712791;17353931;17622752;17690703;18288391;18325344;18355271;20149264;20802130;20936779;21078624;21448135;21791611;21881999;21890473;21900206;21906983;21963094;21987572;21988832;22808956;22863883;22870275;23000965;8651929;9022669;9026990 8848 A8K3Y6;C9IZ15;C9JYW3;H7C4J9;Q15714 AB082525;ABBA01021232;AF256226;AJ222700;AK027071;AK091854;AK290751;AK312345;AL138960;AL139184;AL356107;AMYH02027952;AMYH02027953;AMYH02027954;BC000456;BC009528;BC016867;BC069207;BC105277;BC136475;BC136482;BC146664;BC146679;BF307401;BG703493;BI463370;CB138090;CH471075;CN344671;CR456711;CR627459;D38585;D87061;HI574174;KF455773;NG_029852;NM_001243797;NM_001243798;NM_001243799;NM_006022;NM_183422;U35048;X97299;XM_005266582;XM_005266583;XM_006719887 AAC50566;AAG53077;AAH00456;AAH16867;AAH69207;AAI05278;AAI36476;AAI36483;AAI46665;AAI46680;BAA07598;BAB46917;BAC02703;BAF83440;BAG35266;BAG52429;CAA10951;CAG32992;CAH10539;CBX47576;EAX08710;EAX08711;NP_001230726;NP_001230727;NP_001230728;NP_006013;NP_904358;Q15714;XP_005266639;XP_005266640;XP_006719950 Hs.436383 1338776;1659616;1717979;1736362;1751645;1759689;1788212;1788214;1798300;1849311;1854865;2111536;2111662;2111710;2111712;2138226;2155181;2178058 D13S1158;D13S1272;D13S1505;D13S1584;D13S1620;D13S1622;D13S757;D13S869E;G67437;G67453;IB1310;RH122816;RH48616;SHGC-105637;SHGC-150889;TSC22_2182;WI-13180;WI-18898 DKFZp686O19206;MGC17597;Ptg-2;RP11-269C23.2;TGFB1I4;TSC22 OTTHUMP00000018338;OTTHUMP00000214990;TGFB-stimulated clone 22 homolog;TGFbeta-stimulated clone 22;TSC22 domain family 1, isoform 2;TSC22 domain family protein 1;cerebral protein 2;regulatory protein TSC-22;transcriptional regulator TSC-22;transforming growth factor beta 1 induced transcript 4;transforming growth factor beta-1-induced transcript 4 protein;transforming growth factor beta-stimulated protein TSC-22 APPROVED protein-coding ENSG00000102804 HGNC:16826 07414 607715 REVIEWED 6483693 TSEN2P1 TSEN2 tRNA splicing endonuclease subunit pseudogene 1 4 4 4 q34.2 173744966 173747194 + 176415736 176417964 + 175494570 175496813 + 9847074 391718 ABBA01070403;AC105925;AMYH02010543;NG_009835 APPROVED pseudo HGNC:43965 INFERRED 1602635 TSEN54 TSEN54 tRNA splicing endonuclease subunit This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009] 17 17 17 q25.1 1 7985 + 73512609 73520821 + 75515707 75524740 + 6480464;7240710;8554872;8699517 12477932;14702039;15109492;15489334;17495927;18711368;20301773;20360068;20956791;21383226;21468723;21900206;21906983;22505724;22990118;24250222 283989 E7EN92;J3KRC5;J3QLM6;J3QRQ5;J9JIH8;Q7Z6J9 ABBA01028787;AC100787;AK094466;AK097583;AMYH02033999;BC045551;BC047793;BC053643;BE247638;BE251582;BX424294;CV810347;NG_013041;NM_207346;XM_005257229;XM_006721821;XR_243646 AAH47793;AAH53643;BAC04362;BAG53490;NP_997229;Q7Z6J9;XP_005257286;XP_006721884 Hs.378501 FLJ37147;PCH2A;PCH4;SEN54L;sen54 SEN54 homolog;hsSen54;tRNA-intron endonuclease Sen54;tRNA-splicing endonuclease subunit Sen54 APPROVED protein-coding ENSG00000182173 HGNC:27561 12291 225753;277470;608755 REVIEWED 1603298 TSEN2 TSEN2 tRNA splicing endonuclease subunit This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009] 3 3 3 p25.2 12463261 12512159 + 12517748 12580672 + 12484432 12539630 + 6480464;7240710;8554872;8699517 12421765;12477932;14702039;15109492;15146197;15345747;15489334;16344560;17207965;17495927;18029348;20301773;20360068;22219177;22863883;24250222;24816145;8125298;8889548 80746 B7Z355;C9J7Z4;H7C2Z3;H7C301;Q8NCE0 ABBA01025203;AC018500;AC090947;AK027821;AK074794;AK225875;AK291183;AK295508;AK300449;AMYH02006292;AMYH02006293;BC004178;BC004211;BC019582;BC021975;BM671402;BX641631;CH471055;CN341716;CQ783684;DA063377;DA484093;DA614108;KF457591;NG_011521;NM_001145392;NM_001145393;NM_001145394;NM_001145395;NM_025265;XM_005265495;XM_005265497;XM_005265498;XM_005265499;XR_245158;XR_245159;XR_245160;XR_427295;XR_427296 AAH04178;AAH04211;AAH19582;AAH21975;ADQ32388;BAC11213;BAF83872;BAH12091;BAH13287;CAF86810;EAW64127;EAW64128;EAW64129;EAW64130;NP_001138864;NP_001138865;NP_001138866;NP_001138867;NP_079541;Q8NCE0;XP_005265552;XP_005265554;XP_005265555;XP_005265556 Hs.335550 1700610;1705960;1778286;2113744;5037552 AB056364;D8S2279;RH103927;SHGC-30233;SHGC-79688 MGC2776;MGC4440;PCH2B;SEN2;SEN2L;hsSen2 OTTHUMP00000160187;OTTHUMP00000207746;OTTHUMP00000207747;OTTHUMP00000207748;OTTHUMP00000207749;tRNA-intron endonuclease Sen2;tRNA-splicing endonuclease subunit Sen2 APPROVED protein-coding ENSG00000154743 HGNC:28422 10576 608753;612389 REVIEWED 736193 TSC2 tuberous sclerosis 2 Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2310097 2350826 + 2097472 2138713 + 2047802 2088712 + 1304267;1580097;1580517;1580518;1580519;1580520;1580521;1625616;625610;2308795;6480464;6484113;6907045;7240710;8554872;8699517 10823953;12511557;12869586;14612383;15066998;15150271;16341938;16885148;19339977;7651821 10052455;10069705;10205261;10206124;10533067;10570911;10585443;10607950;10732801;10735580;10807585;10915759;11112665;11175345;11290735;11403047;11533041;11686512;11703097;11741832;11741833;11781698;11811958;11836366;12015165;12062115;12127687;12147258;12150915;12167664;12172553;12176984;12271141;12364343;12438239;12468542;12477932;12547695;12581886;12582162;12711473;12752578;12766909;12771962;12773159;12773162;12773163;12820960;12842888;12894220;1303246;14551205;14559897;14561707;14651849;14680818;14690447;14702039;14756965;14871804;14985384;15024740;15039427;15059224;15072102;15161933;15175323;15231735;15261145;15314020;15324660;15340059;15342917;15355997;15477556;15489334;15579767;15589136;15595939;15616553;15624760;15647351;15757502;15798777;15851026;15851513;15854902;15874888;15963462;16053916;16192644;16196087;16211238;16213898;16237225;16258273;16339216;16344560;16357142;16388022;16424383;16464865;16537497;16554133;16624901;16636147;16835931;16897363;16905638;16940165;16959574;17018601;17043358;17077083;17081983;17114181;17114346;17163575;17234746;17273797;17287951;17304050;17353931;17373211;17458623;17470459;17592551;17632432;17658474;17671177;17693255;17888633;17922028;17975002;17979178;17989114;18029348;18032745;18060739;18085521;18094073;18298802;18302728;18320306;18342602;18368626;18381890;18411301;18451215;18538015;18624398;1870099;18794342;18794346;18807177;18848473;18926585;18958173;18974095;19005330;19058789;19086053;19175396;19250671;19259131;19265534;19332694;19357198;19389623;19395678;19419980;19422538;19443708;19608861;20042714;20145209;20146692;20160076;20166753;20201926;20219685;20237422;20301399;20304964;20354165;20363874;20453000;20530489;20605525;20618440;20622004;20639436;20658316;20671064;20818424;20834067;20882401;21036916;21048031;21134130;21139048;21145542;21243421;21252315;21309039;21329690;21332470;21345208;21407201;21412983;21419848;21449900;21533174;21555252;21784859;21795849;21846442;21890473;21900206;21900748;21906983;21910228;21949787;21963094;21987572;22001647;22090422;22189265;22251200;22287548;22456611;22490766;22505724;22608477;22707510;22795129;22867869;22889411;22903760;22939629;23217510;23251661;23254740;23348097;23389244;23689538;23788249;23818547;23846400;23867796;23878245;23878397;23891004;23947572;24075384;24163370;24255178;24372178;24398473;24444419;24529380;24683199;24722188;24748662;24816145;24917535;7558029;7581393;7608212;7823706;8269512;8634701;8789450;8806680;8824881;8825048;8933518;9045618;9302281;9328481;9361032;9463313;9580671;9809973;9829910;9831664 7249 C9JX95;H3BMQ0;H3BNT5;H3BQK4;H3BQY7;I3L134;I3L3B1;P49815;Q5HYF7;X5D7Q2 AB014460;AB210000;ABBA01030275;ABBA01030276;ABBA01030277;ABBA01030278;ABBA01030279;AC005600;AC093513;AK022401;AK094152;AK125096;AK295672;AK295728;AK299343;AMYH02031242;BC025364;BC046929;BC150300;BF194994;BM966762;BX647816;CH471112;DA316794;DB288276;KJ534954;KJ534955;KJ534956;KJ534957;KJ534958;KJ534982;KJ534983;KJ534984;KJ534985;KJ535011;KJ535022;KJ535038;KJ535039;KJ535051;KJ535091;KJ535094;L48522;L48531;L48537;L48538;L48542;L48546;NG_005895;NM_000548;NM_001077183;NM_001114382;S82474;X75621;XM_005255527;XM_005255528;XM_005255529;XM_005255530;XM_005255531;XM_005255532 AAB37376;AAB41564;AAC34210;AAH25364;AAH46929;AAI50301;AHW56594;AHW56595;AHW56596;AHW56597;AHW56598;AHW56622;AHW56623;AHW56624;AHW56625;AHW56650;AHW56661;AHW56677;AHW56678;AHW56690;AHW56730;AHW56733;BAA32694;BAE06082;BAG52831;BAG54139;BAG58530;BAG58569;BAG61344;CAA53287;CAI46010;EAW85556;EAW85557;EAW85558;EAW85559;EAW85560;NP_000539;NP_001070651;NP_001107854;P49815;XP_005255584;XP_005255585;XP_005255586;XP_005255587;XP_005255588;XP_005255589 Hs.90303 1657305;1743957;1775147;1789871;2112836;2131219;2157424;2191119;5014556;5020948;5109673 D16S3361;D16S3394;D8S1350E;G35510;GDB:378419;MARC_14857-14858:1010755319:1;RH48126;RH68414;SHGC-30026;STS-L48546;csnpnthl1-pcr1-1 FLJ43106;LAM;PPP1R160;TSC4 OTTHUMP00000158940;OTTHUMP00000198394;OTTHUMP00000198395;tuberin;tuberous sclerosis 2 protein APPROVED protein-coding ENSG00000103197 HGNC:12363 01850 191092;191100;606690;613254 REVIEWED 1346120 TSFM Ts translation elongation factor, mitochondrial This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010] 12 12 12 q14.1 57834139 57854561 + 58176528 58196639 + 57782745 57802856 + 1580863;6480464;7240710;8554872;8699517 10965106;12477932;15489334;16583711;16632485;17033963;18029348;20843780;20877624;21139048;21741925;21890473;21906983;21988832;22904065;22939629;25027693;7615523;8889548 10102 C9JG32;C9JT21;E5KS95;F8VPA7;F8VS27;F8WCK2;P43897 ABBA01026693;ABBA01026694;AC025165;AF110399;AK295323;AK304621;AK308981;AK313453;AMYH02026595;AMYH02026596;BC022862;BC093068;BM980630;CH471054;DB448773;HQ205906;HQ205907;HQ205908;HQ205909;HQ205910;HQ205911;HQ205912;HQ205913;HQ205914;HQ205915;HQ205916;HQ205917;HQ205918;HQ205919;HQ205920;HQ205921;HQ205922;HQ205923;HQ205924;HQ205925;HQ205926;HQ205927;HQ205928;HQ205929;HQ205930;HQ205931;HQ205932;HQ205933;HQ205934;HQ205935;HQ205936;HQ205937;HQ205938;HQ205939;HQ205940;HQ205941;HQ205942;HQ205943;HQ205944;HQ205945;L37936;NG_016971;NM_001172695;NM_001172696;NM_001172697;NM_005726 AAC37577;AAD20224;AAH22862;AAH93068;ADP91774;ADP91775;ADP91776;ADP91777;ADP91778;ADP91779;ADP91780;ADP91781;ADP91782;ADP91783;ADP91784;ADP91785;ADP91786;ADP91787;ADP91788;ADP91789;ADP91790;ADP91791;ADP91792;ADP91793;ADP91794;ADP91795;ADP91796;ADP91797;ADP91798;ADP91799;ADP91800;ADP91801;ADP91802;ADP91803;ADP91804;ADP91805;ADP91806;ADP91807;ADP91808;ADP91809;ADP91810;ADP91811;ADP91812;ADP91813;BAG58300;BAG65403;EAW97075;EAW97076;EAW97077;EAW97078;NP_001166166;NP_001166167;NP_001166168;NP_005717;P43897 Hs.632704 1678041;1856037;2108973;2166322;2184523 A006V17;RH45892;RH91309;SHGC-37617;TSFM_9041 COXPD3;EF-TS;EF-Tsmt;EFTS;EFTSMT OTTHUMP00000202979;OTTHUMP00000202980;OTTHUMP00000202982;OTTHUMP00000202983;OTTHUMP00000243913;OTTHUMP00000243914;elongation factor Ts, mitochondrial;mitochondrial elongation factor Ts APPROVED protein-coding ENSG00000123297 HGNC:12367 05285 604723;610505 REVIEWED 1346501 TSGA10IP testis specific, 10 interacting protein ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol (ortholog) 11 11 11 q13.1 63037039 63051374 + 65713115 65727434 + 65945644 65959963 + 6480464;8554872 12477932;14702039 254187 Q3SY00 ABBA01024094;ABBA01024095;AK057442;AMYH02024966;AP006287;BC104021;BC104022;BC104023;CH471076;HC007354;HC044723;KF459671;NM_152762 AAI04023;AAI04024;BAB71488;CBH19482;CBH30691;EAW74473;NP_689975;Q3SY00 Hs.350671 FAM161C;FLJ32880;MGC120465;MGC120466;MGC120468 testis-specific protein 10-interacting protein;tsga10-interacting protein protein-coding ENSG00000175513 HGNC:26555 08147 VALIDATED 1348893 TSEN34 TSEN34 tRNA splicing endonuclease subunit This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009] 19 19 19 q13.4 51735803 51740078 + 54694112 54698394 + 54190266 54194536 + 6480464;7240710;8554872;8699517 10941842;12477932;14702039;15109492;15146197;15231747;15489334;18711368;20301773;20360068;21139048;21906983;21963094;21987572;22863883;23251661;23562994;24250222;8125298;8889548 79042 A9C4B9;B0V3J0;B4DT51;E7EQB3;Q9BSV6 ABBA01068172;AC012314;AC245052;AF211970;AK025929;AK054944;AK225385;AK226013;AK300054;BC000944;BC004530;BC020805;BE779123;BM977824;CA437038;CH471135;CN256589;CU151838;CU457734;DB463309;DR763016;NG_015810;NG_033045;NM_001077446;NM_001282332;NM_001282333;NM_024075;XM_005259241;XM_005277087;XM_005277276;XM_005277318;XM_005278290;XM_006725878;XM_006725966;XM_006726065;XM_006726166;XM_006726203 AAH04530;AAH20805;ABM84262;ABM87651;BAB15284;BAG61863;EAW72203;EAW72204;EAW72205;EAW72206;EAW72207;NP_001070914;NP_001269261;NP_001269262;NP_076980;Q9BSV6;XP_005259298;XP_005277144;XP_005277333;XP_005277375;XP_005278347;XP_006725941;XP_006726029;XP_006726128;XP_006726229;XP_006726266 Hs.15580 1650179;1652570;1652572;1669075;1669077;1810246;1813092;1815738;1818876;1819246;1828238;2041668;2041670;2041672;2041674;2041676;2041678;2041680;2041682;2041684;2041686;2041688;2041690;2041692;2041694;2041696;2041698;2041700;2041702;2041704;2041706;2041708;2041710;2041712;2041714;2041716;2041718;2041720;2041722;2041724;2041726;2103678;2103680 A006I07;D19S1136;D2S2694;ECD06115;ECD07565;ECD08907;ECD10502;ECD10690;ECD15244;G20833;REN91871;REN91872;REN91873;REN91874;REN91875;REN91876;REN91877;REN91878;REN91879;REN91880;REN91881;REN91882;REN91883;REN91884;REN91885;REN91886;REN91887;REN91888;REN91889;REN91890;REN91891;REN91892;REN91893;REN91894;REN91895;REN91896;REN91897;REN91898;REN91899;REN91900;RH65563;stSG605860;stSG605862 LENG5;PCH2C;SEN34;SEN34L CTD-3093M3.1;OTTHUMP00000069330;OTTHUMP00000069331;OTTHUMP00000069332;OTTHUMP00000069333;OTTHUMP00000082767;hsSen34;leukocyte receptor cluster (LRC) member 5;leukocyte receptor cluster member 5;tRNA-intron endonuclease Sen34;tRNA-splicing endonuclease subunit Sen34 APPROVED protein-coding ENSG00000170892 HGNC:15506 10038 608754;612390 REVIEWED 1314383 TSGA13 testis specific, 13 INTERACTS WITH methotrexate (ortholog) 7 7 7 q32 125101322 125119243 - 130353486 130372268 - 130668646 130686568 - 6480464 12477932;12690205;14702039;14962666;17207965 114960 C9JIG7;C9JVS7;Q96PP4 ABBA01057581;ABBA01057582;ABBA01057583;AC009274;AC234644;AF294347;AF431815;AK093329;AMYH02016761;BC038415;CH236950;CH471070;HC007356;NM_052933 AAH38415;AAK97089;AAP97305;ADQ31603;BAG52691;CBH19483;EAL24084;EAW83771;EAW83772;NP_443165;Q96PP4 Hs.592266 5015619;5022578;5022651 D11S2921;D11S3114;D1S1423 OTTHUMP00000207094;OTTHUMP00000207095;OTTHUMP00000207096;testis-specific A13;testis-specific gene 13 protein protein-coding ENSG00000213265 HGNC:12369 11650 PROVISIONAL 1349732 TSG101 tumor susceptibility 101 The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008] 11 11 11 p15 18637463 18684120 - 18501858 18548503 - 18480311 18526956 - 1600429;1580863;2291848;2291849;2291852;2291854;2291847;2291851;2298534;2291856;4892619;6480464;6907045;7240710;8699517;8554872 10027311;10505033;10600297;10618725;10930114;17369844;17606716;19535733;9019400;9444960 10440698;10508170;10888872;11031247;11134028;11172000;11427703;11595185;11726971;11805336;11838966;11916981;11943869;12006492;12029088;12101421;12205095;12379843;12388682;12477932;12505256;12559917;12598123;12663786;12725919;12743307;12767222;12802020;12900394;12900395;12915533;12927808;13679614;14505569;14505570;14519844;14526201;14556380;14581525;14581576;14722278;14761944;14991575;15033475;15039775;15053872;15126635;15143060;15163754;15168195;15218037;15240819;15256501;15326289;15342556;15452250;15489334;15509564;15604093;15611048;15657031;15795524;15858022;15908698;16004603;16118794;16138902;16189514;16234236;16256744;16344560;16407257;16434471;16470130;16552148;16571793;16571837;16707569;16778200;16808324;16940516;16973552;17014699;17060450;17083721;17110434;17174262;17182674;17182691;17229889;17320394;17321722;17350572;17428861;17538020;17556548;17853893;17940959;17942528;17982468;18005716;18029348;18077552;18256029;18267010;18321968;18367816;18439901;18600204;18641129;18643869;18676680;18789977;18948538;18976975;19020832;19053244;19060904;19064259;19099395;19143627;19143632;19158374;19170196;19244744;19282983;19362095;19380743;19401538;19520058;19542561;19549727;19625176;19692168;19692479;19703557;19787439;19802344;19808888;19914066;20012524;20018238;20088757;20301425;20331378;20360068;20372822;20399684;20427536;20504928;20654576;20691033;20712566;20720181;20929444;21070952;21110817;21113135;21117030;21139048;21152581;21159863;21191027;21304933;21455631;21505419;21528537;21643473;21666754;21706016;21757351;21762796;21762798;21841072;21875593;21880841;21890473;21988832;22004035;22291694;22315426;22348143;22405001;22421880;22675076;22754649;22761998;22768867;22797925;22939629;23000965;23027949;23217182;23222715;23266279;23305486;23317503;23330719;23383273;23408603;23895345;23933150;24107264;24237697;24244542;24284069;24436186;24522922;24561123;24816145;25010273;9241264;9241265;9242438;9366528;9465061;9840940 7251 F5H442;J3QKS4;J3QRU6;Q99816 ABBA01061053;ABBA01061054;ABBA01061055;AC027544;AK130787;AMYH02024397;AMYH02024398;AMYH02024399;AU138453;AY207473;AY207474;BC002487;BP347883;CB528488;CH471064;KF455334;NG_012138;NM_006292;U82130;XM_005253107;XM_005253108 AAC52083;AAH02487;AAO59169;AAO59170;ABM83718;ABM87038;EAW68381;EAW68382;EAW68383;EAW68384;EAW68385;EAW68386;NP_006283;Q99816;XP_005253164;XP_005253165 Hs.523512 1664891;1665319;1701538;1735002;1797050;1848354 D11S2247E;D11S4280;D20S528E;RH104402;SHGC-37252;YWHAB__1218 TSG10;VPS23 ESCRT-I complex subunit TSG101;OTTHUMP00000236661;OTTHUMP00000236662;tumor susceptibility gene 10;tumor susceptibility gene 101;tumor susceptibility protein APPROVED protein-coding ENSG00000074319 HGNC:15971 03229 114480;601387 REVIEWED 1344012 TSHRL2 thyroid stimulating hormone receptor-like 2 7255 HGNC:12375 1354192 TSHRL1 thyroid stimulating hormone receptor-like 1 7254 HGNC:12374 1346495 TSHRL3 thyroid stimulating hormone receptor-like 3 7256 HGNC:12376 732605 TSHB thyroid stimulating hormone, beta The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 1 p13 113801633 113806160 + 115572445 115576930 + 115029824 115034309 + 1580863;1624160;6480464;6907045;7240710;8554872;8699517 7956715 10884185;11140838;11297590;11549695;11788671;12036966;12364478;12438673;12477932;1310694;1321428;1396343;14671302;1512415;15198300;15292359;15297803;15300985;15489334;16133148;16216492;16804796;1692298;1695807;1710792;17207965;17954417;1811097;18240029;18577758;19273570;19364510;1971148;19730683;19837933;19936667;20455884;20534762;20553196;20826543;20838640;21981142;22278420;22752807;23345094;2369842;24086448;2457586;2558646;2558651;2768233;2792087;290;3145219;3234176;3243440;3839756;4368999;5002675;7776983;8196184;8416675;8441852;8636437;8670056;8838148;890569;9285205;9589662;9589689 7252 P01222 ABBA01068472;AL109660;AMYH02001787;AY402762;BC069298;CH471122;CQ873165;CS120870;M21023;M21024;M23669;M23670;M23671;M25164;NG_015891;NM_000549;NM_001277991;S51112;S70587;X02866;X02867 AAA36782;AAA61235;AAB05845;AAB24571;AAB30828;AAH69298;ADQ32900;CAA26618;CAA26619;CAH56880;CAJ15134;EAW56626;NP_000540;NP_001264920;P01222 Hs.406687 1740803;2166625;2218846;5494049 D1S3459;SHGC-75364;TSHB__5149;UniSTS:480813 CHNG4;TSH-B;TSH-BETA OTTHUMP00000013654;thyroid-stimulating hormone subunit beta;thyrotropin beta chain;thyrotropin beta subunit;thyrotropin subunit beta APPROVED protein-coding ENSG00000134200 HGNC:12372 11766 188540;275100 REVIEWED 1323269 TSHZ1 teashirt zinc finger homeobox 1 This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012] 18 18 18 q22.3 69741400 69820597 + 72922710 73001905 + 75210755 75289950 + 6480464;7240710;8699517;8554872 12477932;14702039;16344560;17586487;18029348;19343227;20379614;21874228;22152683;23568457;24487590;8125298;8889548;9610721 10194 A7YF73;H0YKA1;H0YN23;Q6ZSZ6 AB210042;ABBA01015268;ABBA01015269;AC025105;AF039698;AI041446;AK127042;AK223545;AL833321;AMYH02034997;AMYH02034998;BC010679;BC024152;BU736177;DB284179;NG_032047;NM_005786;XM_005266640;XM_005266641 AAC18047;AAH24152;AAI52773;AAI56589;BAC86800;BAD97265;BAE06124;NP_005777;Q6ZSZ6;XP_005266697;XP_005266698 Hs.284217 1673207;1698796;1850686 G19288;RH102961;RH17560 CAA;NY-CO-33;SDCCAG33;TSH1 OTTHUMP00000163758;antigen NY-CO-33;serologically defined colon cancer antigen 33;teashirt homolog 1 APPROVED protein-coding ENSG00000179981 HGNC:10669 15308 607842;614427 REVIEWED 1347301 TSIX TSIX transcript, XIST antisense RNA In mammals, dosage compensation of genes on the X chromosome occurs by X inactivation, which is regulated in cis by the X-inactivation center (XIC) and expression of the XIST non-coding RNA. This gene expresses a non-coding antisense transcript across the 3' end of the XIST locus, and is coexpressed with XIST only from the inactive X chromosome. The mouse ortholog of this locus is required for imprinted X inactivation in extraembryonic tissues and silences Xist through modification of the chromatin structure in the Xist promoter region. In contrast, imprinted X inactivation does not occur in human extraembryonic tissues and transcripts from this locus do not repress XIST expression or affect random X chromosome inactivation in embryonic cells. This transcript is thought to be unspliced and extend over more than 30 kb, but its exact nature has not been determined. [provided by RefSeq, Jul 2008] X X X q13.2 73295516 73332546 + 73012040 73049066 + 73792205 73829231 + 6480464 10192391;10737800;11555794;11743158;12023758;12610550;7566098 9383 AA357843;ABBA01059641;ABBA01059642;ABBA01059643;ABBA01059644;AL353804;AL356513;AL683895;AMYH02039772;AV731454;NR_003255;U80460 Hs.529901 1701860;1702488;1742043;1744455;1775022;1793614;1793616;2118761;2138767;2141630;2147599;2182034;2182036;7184007 1206;A006G16;DXS7717;DXS8235;DXS9733;G20784;GDB:190003;GDB:265297;GDB:454788;PMC24149P16;PMC24149P17;RH18196;RH47941 LINC00013;NCRNA00013;XIST-AS;XIST-AS1 XISTAS APPROVED ncrna ENSG00000270641 HGNC:12377 300181 REVIEWED 1353516 TSHZ2 teashirt zinc finger homeobox 2 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN multicellular organismal development (inferred); regulation of gene expression (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 20 20 20 q13.2 48293566 48816556 + 51588946 52111869 + 52972407 53495330 + 6480464;8554872 11181995;11780052;12477932;14702039;15561718;16344560;19343227;19745106;19862010;19913121;20379614;20628086;21423795;24322204;9671742 128553 Q9NRE2;S4R3C8 ABBA01052841;ABBA01052842;ABBA01052843;ABBA01052844;AF230201;AK091206;AK302570;AL050316;AL109930;AL121902;AL354772;AL354993;AL391097;AMYH02037285;AMYH02037286;AMYH02037287;AMYH02037288;AMYH02037289;AMYH02037290;AY926481;BQ574274;BX276189;BX486483;BX640770;BX648148;CH471077;CS300680;DA647113;KF456947;KF456955;KF510477;KF511313;NM_001193421;NM_173485;XM_006723697 AAF76850;AAI60051;AAX10026;BAC03610;BAH13747;CAE45871;CAK32344;EAW75583;EAW75584;NP_001180350;NP_775756;Q9NRE2;XP_006723760 Hs.473117 1339918;1341316;1341359;1648118;1654477;1664710;1667179;1669972;1670919;1688742;1695878;1695906;1704016;1705046;1706364;1713401;1764975;1770620;1774692;1846539;2124167;2128113;2161140;2167740;2168420;2175300;2183415;5037552;5116968;7184474 AL022262;D20S1020;D20S183;D20S854;D20S902;D8S2279;G01520;RH119557;RH36244;RH47901;RH65195;RH69807;RH78528;SGC31010;SHGC-148530;SHGC-56787;SHGC-77795;SHGC-78041;SHGC-78826;SHGC-78862;SHGC-80749;WI-16697;Z94375;Z94392;Z94409;Z94627;Z94675;Z94682;ha3002 C20orf17;DKFZp686K2480;FLJ33887;OVC10-2;TSH2;ZABC2;ZNF218 OTTHUMP00000031714;cell growth-inhibiting protein 7;ovarian cancer-related protein 10-2;serologically defined colon cancer antigen 33 like;teashirt family zinc finger 2;teashirt homolog 2;zinc finger protein 218 protein-coding ENSG00000182463 HGNC:13010 10730 614118 VALIDATED 1314877 TSHZ3 teashirt zinc finger homeobox 3 ENCODES a protein that exhibits chromatin binding; INVOLVED IN negative regulation of transcription, DNA-templated; regulation of respiratory gaseous exchange by neurological system process (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; arsenite(3-) 19 19 19 q12 28459559 28533885 - 31765851 31840190 - 31274945 31349284 - 6480464;8554872 10819331;11076863;11230166;12477932;15146197;15489336;16381901;17081983;18029348;19343227;19734545;19745106;20877624;21423795;21543328;21829377;23000965;23667531;23671695;24315451 57616 A1L0U7;Q63HK5;U3KQ78 AB040907;ABBA01039576;ABBA01039577;AC025809;AI015687;AK291466;AK293267;AL136805;AMYH02035905;AMYH02035906;BC127095;BC127096;BX648745;CN256026;NM_020856 AAI27096;AAI27097;BAA95998;BAF84155;BAG56797;CAB66739;CAH56184;CAL38448;NP_065907;Q63HK5 Hs.278436 1656461;1661956;1673560;1688428;1722307;2145383 CHLC.GCT2C12;G60069;RH46365;RH65085;RH99014;WI-15249 FLJ54422;KIAA1474;TSH3;ZNF537 OTTHUMP00000196559;teashirt 3;teashirt family zinc finger 3;teashirt homolog 3;zinc finger protein 537 protein-coding ENSG00000121297 HGNC:30700 18351 614119 VALIDATED 1602690 TSKS testis-specific serine kinase substrate This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 47112468 47135972 - 50243011 50266587 - 49739754 49763330 - 6480464;8554872 11444856;12477932;15044604;15489334;17474147;18495105;18533145;19389623;21832049;22939629 60385 C9K0I0;Q9UJT2 ABBA01032909;ABBA01032910;ABBA01032911;AC011495;AF200923;AF411384;AMYH02036329;AMYH02036330;BC058862;CH471177;HC007358;NM_021733;XM_005259130 AAF12819;AAH58862;AAL60464;CBH19484;EAW52534;NP_068379;Q9UJT2;XP_005259187 Hs.515858 1669763 RH78424 PPP1R161;STK22S1;TSKS1;TSSKS STK22 substrate 1;testis specific serine/threonine kinase substrate;testis-specific kinase substrate APPROVED protein-coding ENSG00000126467 HGNC:30719 09748 608253 REVIEWED 737021 TSHR thyroid stimulating hormone receptor The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 14 14 14 q31 61461769 61652548 + 81421333 81612646 + 80954989 81146302 + 1580775;1580776;1580777;1580744;1580863;6480464;6907045;7240710;8548656;8548658;8548664;8548654;8548655;8548662;8548665;8548661;8548663;8548657;8548669;8548673;8554872;8699517 10199795;11566956;11887032;12558129;18306976;19244275;20237164;21124799;21155717;21642385;22673349;23538203;24518168;7828357;8796147;9528975 10037069;10037070;10487707;10560955;10595453;10651846;10720030;10809230;10852462;10870027;10946859;11022192;11081251;11081252;11095460;11127522;11128715;11201847;11434721;11442002;11502179;11517004;11549687;11716039;11716047;11814624;11847099;11917095;11923469;11923470;11981027;12036966;12039695;12045258;12050212;12081236;12213664;12223484;12240901;12242030;12383251;12432093;12477932;12589819;12593721;12629076;12668683;12709678;12727856;12762632;12788902;12790806;12804102;12813025;12930595;12933676;12960016;1445355;14576174;14604818;14633662;14654252;14725684;14759073;15163335;15297445;1530609;15319351;15345720;15384882;15498884;15531543;1570295;15741259;15775968;15779008;15879364;15889138;15911145;16060907;16106256;16150909;16320156;1651314;16513835;16756469;16756473;16756474;16899458;16955277;1697467;17042691;17079233;17207965;17392608;17408420;17408423;17456567;17521325;17526952;17570630;17696839;17697008;17725428;17803697;17902201;17932107;17938324;17953807;18025759;18074395;18162522;18175146;18240029;18379122;18381815;18390987;18441013;18466076;18497944;18514160;18528812;18606720;18627427;18652889;18681856;18694911;18710471;18727713;18759693;18768899;18818748;18925838;18927215;18976153;18989620;19015922;19019335;19066298;19158199;19178511;19187127;19214582;19240155;19328414;19351817;19386596;19417038;19438904;19453261;19492584;19499991;19506388;19527514;19550078;1955520;19633293;19636218;19641516;19730683;19820021;19826830;19837933;19850743;19896111;19955180;20117998;20140262;20179143;20336923;20379614;20392871;20395239;20429628;20535589;20538910;20615127;20652618;20691434;20716560;20718767;20719860;20846293;20926595;20929407;21106880;21117863;21186955;21247981;21283701;21430027;21490078;21525003;21525174;21586576;21597314;21677036;21677043;21705666;21707688;21714466;21714469;21745101;21773967;21830127;21834684;21841780;21846801;21863340;21989446;22049173;22074661;22112806;22128326;22175420;22289392;22291442;22309849;22313426;22405933;22438231;2249482;22517745;22589738;22666732;22781452;22792265;22815044;22876533;2293030;2302212;23118423;23154162;23329763;23332130;23336574;23346880;23563316;23592747;23962080;24029729;24144966;24328419;24517461;24561123;2558651;2610690;7488864;7508946;7528344;7556878;7565801;7647578;7800007;7920658;7989485;8045989;8188646;8327473;8413627;8496155;8552586;8636266;8747461;8770884;8954020;8964822;9062474;9100579;9185526;9253356;9294132;9329388;9349581;9360555;9398746;9525885;9589634;9837919;9854118 7253 G3V381;P16473;Q0VAP8 AB065589;AB209207;ABBA01030612;ABBA01030613;AC007262;AC010072;AC010582;AF035261;AL136040;AMYH02029621;AMYH02029622;AMYH02029623;AY429111;BC009237;BC024205;BC063613;BC108653;BC120972;BC120973;BC127628;BC127629;BC141970;CH471061;M31774;M32215;M73747;NG_009206;NM_000369;NM_001018036;NM_001142626;R51015;S45272;S49816;S82807;XM_005268037;XM_005268039;XM_006720245 AAA36783;AAA61236;AAA70232;AAB23390;AAB24246;AAB87990;AAD31568;AAF09032;AAF26775;AAH09237;AAH24205;AAH63613;AAI08654;AAI20973;AAI20974;AAI27629;AAI41971;AAI56780;AAR07906;ADQ32529;BAC05818;BAD92444;EAW81333;NP_000360;NP_001018046;NP_001136098;P16473;XP_005268094;XP_005268096;XP_006720308 Hs.160411 1751571;1783132;1797002;2111061;2113868;2118495;2141157;2141291;2150712;2152791;2163378;2179097;5093846 A009X38;D14S1228;D14S248E;G32959;G35751;RH44680;RH66833;RH70226;SGC33437;SHGC-105515;SHGC-172293;TSHR;TSHR_736 CHNG1;LGR3;MGC75129;TSH-R;hTSHR-I OTTHUMP00000246010;OTTHUMP00000246011;OTTHUMP00000246013;OTTHUMP00000246014;seven transmembrane helix receptor;thyroid stimulating hormone receptor, isoform 2;thyroid stimulating hormone, receptor;thyroid-stimulating hormone receptor;thyrotropin receptor;thyrotropin receptor-I, hTSHR-I APPROVED protein-coding ENSG00000165409 HGNC:12373 04537 603372;603373;609152 REVIEWED 1601763 TSKU tsukushi, small leucine rich proteoglycan INVOLVED IN anterior commissure morphogenesis (inferred); ciliary body morphogenesis (inferred); corpus callosum morphogenesis (inferred); FOUND IN extracellular space (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 11 11 11 q13.5 73801738 73816651 + 76493357 76509198 + 76782313 76798154 + 6480464 11085516;12477932;12975309;14702039;15231748;15489334;16303743;16344560;19710929;22880013;22995554 25987 B3KRF9;E9PLG7;E9PN12;Q8WUA8 ABBA01017447;AF191019;AK075476;AK091475;AK126536;AK313405;AL110276;AMYH02025129;AP003119;AY358317;BC020975;BT007440;CH471076;DB199776;NM_001258210;NM_015516;XM_005273892 AAF09483;AAH20975;AAP36108;AAQ88683;BAG52149;BAG52371;CAB53711;EAW75005;EAW75006;EAW75007;NP_001245139;NP_056331;Q8WUA8;XP_005273949 Hs.8361 1679345;2128252;5014053 D1S3693;RH36843;STS-AA009735 E2IG4;LRRC54;TSK E2-induced gene 4 protein;OTTHUMP00000229026;leucine rich repeat containing 54;leucine-rich repeat-containing protein 54;tsukushi homolog;tsukushi small leucine rich proteoglycan homolog;tsukushin APPROVED protein-coding ENSG00000182704 HGNC:28850 12152 608015 VALIDATED 1606429 TSNARE1 t-SNARE domain containing 1 INVOLVED IN vesicle-mediated transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); membrane (inferred); INTERACTS WITH aflatoxin B1; diazinon; dimethyl sulfoxide 8 8 8 q24.3 139601738 139745075 - 143293441 143484543 - 142212080 142450340 - 6480464;8554872 12477932;14702039;16344560;23974872 203062 A0AVG3;E5RG83;E5RHT3;E5RHW3;E5RI41;Q6P186;Q96NA8 ABBA01029395;ABBA01029396;ABBA01029397;ABBA01029398;ABBA01029399;ABBA01029400;ABBA01029401;ABBA01029402;ABBA01029403;AC103758;AC129918;AC134682;AC139676;AC145290;AI203371;AK055726;AMYH02018914;AMYH02018915;AMYH02018916;AMYH02018917;AMYH02018918;AMYH02018919;BC065226;BC113556;BC126343;BC143684;BC143686;BF529741;BX115133;CH471162;DA229159;HY009343;HY264564;KC877361;KC877368;KC877376;KC877391;NM_001291931;NM_145003;XM_005250828 AAH65226;AAI13557;AAI26344;AAI43685;AAI43687;ADR83212;BAB70997;EAW82324;NP_001278860;NP_659440;Q96NA8;XP_005250885 Hs.370931 1729476;1758377;1758627;1771113;1786642;1786644;1786650;1786682 D15S187;D8S161;SHGC-148192;SHGC-148956;SHGC-149162;SHGC-149212;SHGC-149474;SHGC-153754 FLJ31164;MGC142116 OTTHUMP00000227757;OTTHUMP00000227758;OTTHUMP00000227759;t-SNARE domain-containing protein 1 protein-coding ENSG00000171045 HGNC:26437 08708 VALIDATED 1346427 TSNAX translin-associated factor X This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. [provided by RefSeq, Jul 2008] 1 1 1 q42.1 204929252 204967140 + 231664399 231702270 + 231528653 231566524 + 1580863;6480464 10945471;11043515;11278549;11801738;12036294;12477932;14642810;14711818;15489334;15561718;15838535;15919079;16055714;16189514;16275808;17673452;18330356;19255581;19447967;19471022;19615732;19760522;19805229;20398908;20498229;20691427;21139048;21552258;21890473;21906983;21963094;21988832;22053931;22427937;22505724;22673686;22863883;22889834;22939629;23000965;24816145;24928020;25015289;9013868 7257 Q5VVQ1;Q99598 ABBA01033039;ABBA01033040;AF222988;AF271269;AK313068;AL445524;AL626763;AMYH02002890;AMYH02002891;BC010376;BC011797;BX537610;CH471098;NM_005999;X95073 AAF91233;AAH10376;AAH11797;AAK58640;BAG35896;CAA64469;CAD97797;EAW69961;EAW69962;EAW69963;EAW69964;NP_005990;Q99598 Hs.13318 1683182;1693790;5022578;5022651;5037552;5118444 D11S2921;D11S3316;D1S1423;D8S2279;RH93090;SHGC-58926 DISC1;TRAX OTTHUMP00000037482;OTTHUMP00000037483;disrupted in schizophrenia 1;translin-associated protein X;translin-like protein APPROVED protein-coding ENSG00000116918 HGNC:12380 04270 602964 REVIEWED 1351634 TSN translin This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 2 2 2 q21.1 115837760 115850068 + 122513121 122525429 + 121755545 121767853 + 1580863;6480464 10434033;10767349;11126370;11278549;11705401;11801738;11876655;12477932;12484770;12532453;14702039;14711818;15039555;15138261;15342556;15489334;15544804;15815621;15919079;16218753;16344560;16411762;18781797;19805324;20932654;21139048;21150319;21552258;21890473;21906983;21988832;22053931;22427937;22863883;22939629;23000965;23084401;23980029;24338081;24654937;24816145;7663511;7947454;8125298;8134113;9013868;9111049;9244443;9756912 7247 B3KRM8;E9PGT1;H7C1D4;Q15631 ABBA01032249;AC018737;AK091915;AK222868;AK296469;AK298812;AK307344;AK311410;AK315763;AL122099;AMYH02004678;BC002359;BP289175;BP309328;BT019490;BT019491;CH471103;DA523145;DA772798;NM_001261401;NM_004622;NR_048556;NR_048557;NR_048558;NR_048559;X78627;X95076;Y12563 AAH02359;AAV38297;AAV38298;AAY14831;BAD96588;BAG52440;BAH12364;BAH12875;CAA55341;CAA73150;EAW95262;EAW95263;NP_001248330;NP_004613;Q15631 Hs.75066 2139802;2140574;2159003;2173757 A002S45;D2S2498;RH46068;RH70915 BCLF-1;C3PO;RCHF1;REHF-1;TBRBP;TRSLN OTTHUMP00000203714;OTTHUMP00000203715;OTTHUMP00000203716;component 3 of promoter of RISC;recombination hotspot associated factor;recombination hotspot-binding protein;testis brain-RNA binding protein APPROVED protein-coding ENSG00000211460 HGNC:12379 08993 600575 REVIEWED 7368706 TSNAX-DISC1 TSNAX-DISC1 readthrough (NMD candidate) This gene represents naturally occurring read-through transcription between the neighboring TSNAX (translin-associated factor X) and DISC1 (disrupted in schizophrenia 1) genes on chromosome 1. Alternative splicing results in multiple transcript variants, all of which are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. These alterations in gene processing may be associated with risk for psychiatric illness, most notably, schizophrenia. [provided by RefSeq, Nov 2010] 1 1 1 q42.1 204929252 205445842 + 231664399 232177018 + 231528653 232041272 + 6480464;8554872 10945471;19118814;19255581;19451621;19805229;20967262;21483430;21659360 100303453 C4P0D4;C4P0D6;C4P0D8;Q9NRI2 ABBA01033039;ABBA01033040;ABBA01033041;ABBA01033042;ABBA01033043;ABBA01033044;ABBA01033045;ABBA01033046;ABBA01033047;ABBA01033048;ABBA01033049;ABBA01033050;AF230315;AF230316;AL136171;AL161743;AL359543;AL445200;AL445524;AL450284;AL626763;AL751364;AMYH02002890;AMYH02002891;AMYH02002892;AMYH02002893;AMYH02002894;AMYH02002895;AMYH02002896;AMYH02002897;AMYH02002898;FJ804217;FJ804218;FJ804219;FJ804220;FJ804221;FJ804222;FJ804223;FJ804224;KF455159;KF455161;NR_028393;NR_028394;NR_028395;NR_028396;NR_028397;NR_028398;NR_028399;NR_028400 Hs.13318 1338865;1341140;1341601;1647392;1658531;1683182;1690688;1692726;1693134;1693790;1694500;1715905;1722529;1723047;1739921;1748699;1757185;1781280;1781662;1850528;2122334;2125822;2132045;2138868;2152573;2174588;2183194;5037552;7184440 A008K14;AL009602;AL009787;AL034131;AL034292;D1S1621;D1S1624;D1S2191;D1S251;D1S2517;D1S2709;D1S3462;D8S2279;G60191;G60474;G65049;RH121953;RH122687;RH45079;RH93065;RH93090;SGC32126;SHGC-110351;SHGC-144606;SHGC-154930;SHGC-58926;SHGC-76522;SHGC-76529 ncrna HGNC:49177 VALIDATED 1604556 TSLP thymic stromal lymphopoietin This gene encodes a hemopoietic cytokine proposed to signal through a heterodimeric receptor complex composed of the thymic stromal lymphopoietin receptor and the IL-7R alpha chain. It mainly impacts myeloid cells and induces the release of T cell-attracting chemokines from monocytes and enhances the maturation of CD11c(+) dendritic cells. The protein promotes T helper type 2 (TH2) cell responses that are associated with immunity in various inflammatory diseases, including asthma, allergic inflammation and chronic obstructive pulmonary disease. The protein is therefore considered a potential therapeutic target for the treatment of such diseases. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 5 5 5 q22.1 106353329 106359661 + 110405778 110413722 + 111070080 111078024 + 6480464;6907045 10570284;11418668;11480573;12055625;12477932;12707303;14999427;15741223;15944327;16432252;16782024;16785889;16899198;17129180;17213320;17320941;17416344;17513456;17513717;17635955;17666213;17959543;18049884;18060034;18244952;18445339;18450510;18482256;18684970;18720075;18757306;18768889;18787178;18802341;18802347;18802348;18832669;18832690;18836588;18941246;19055649;19056108;19155513;19164348;19187393;19198610;19231591;19348931;19400908;19423540;19539984;19555430;19561109;19741251;19763625;19770269;19841072;19857905;19968632;20016474;20079130;20086239;20098747;20109311;20127673;20143171;20146705;20173030;20208534;20228393;20236697;20300138;20335125;20406964;20438785;20444169;20444170;20466416;20501368;20538796;20555350;20560908;20624642;20656951;20660708;20816195;20924287;20974963;21054781;21055671;21085187;21109412;21109746;21148792;21178477;21255094;21274737;21439160;21440421;21458958;21463955;21468164;21576506;21682736;21689850;21690322;21691053;21772055;21804548;21804549;21820713;21832049;21835441;21966427;21975173;22036096;22092577;22154513;22168549;22189594;22274860;22304237;22317895;22355542;22442496;22578802;22633328;22750414;22764833;22806096;22888172;22913730;22973903;22981788;23200753;23267211;23310954;23335246;23363980;23376058;23413283;23433457;23485611;23495958;23602531;23688414;23817569;23817571;23872715;23953709;24081992;24167583;24220317;24335833;24388013;24401911;24453244;24525665;24599138;24782181;24792379;24850429 85480 G3XAM8;Q969D9 ABBA01069072;AC008572;AF338732;AL833421;AMYH02011963;AY037115;BC016720;BC022894;BC040592;BF245025;BU571002;CH471086;CS390620;CS403714;FB735793;GN090295;HD117895;HH762798;NM_033035;NM_138551;NR_045089 AAH16720;AAH22894;AAH40592;AAK60617;AAK67490;CAL40434;CAL44818;CAV31018;CAX87027;CBX74361;CBX78818;EAW49037;EAW49038;NP_149024;NP_612561;Q969D9 Hs.389874 1697364;1797004;1857625 RH102180;RH65594;TSLP_1555 OTTHUMP00000158998;OTTHUMP00000158999 APPROVED protein-coding ENSG00000145777 HGNC:30743 06108 607003 REVIEWED 1348366 TSNAXIP1 translin-associated factor X interacting protein 1 INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); spermatogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 q22.1 52349445 52370387 + 67840829 67861971 + 67806573 67828068 + 6480464;8554872 12036294;12477932;16344560;21683752;21832049;22939629 55815 B4DXD0;B4E1H3;E7ENJ7;H3BNS9;H3BNU6;H3BQ72;I3L1M2;J3KQF4;J3QQL6;J3QS50;J3QSH8;Q2TAA8 ABBA01025457;ABBA01025458;ABBA01025459;ABBA01025460;AC040162;AF132730;AK027245;AK301920;AK302300;AK303841;AMYH02032243;BC035320;BC050693;BC051766;BC062628;BC111018;BU607634;BU607826;CH471092;DA200633;NM_001288990;NM_001288991;NM_001288992;NM_001288993;NM_001288994;NM_018430;XM_005256049;XM_005256051;XM_005256052;XM_005256053;XM_005256054;XM_006721234;XM_006721235 AAF66441;AAI11019;BAG63342;BAG63640;BAG64785;EAW83169;EAW83170;EAW83171;EAW83172;EAW83173;EAW83174;EAW83175;EAW83176;EAW83177;NP_001275919;NP_001275920;NP_001275921;NP_001275922;NP_001275923;NP_060900;Q2TAA8;XP_005256106;XP_005256108;XP_005256109;XP_005256110;XP_005256111;XP_006721297;XP_006721298 Hs.632212 1852041;1854980 D16S2576E;G11818 MGC111443;TXI1 OTTHUMP00000174849;translin-associated factor X-interacting protein 1;trax-interacting protein 1 protein-coding ENSG00000102904 HGNC:18586 09656 607720 VALIDATED 731470 TSGA10 testis specific, 10 INVOLVED IN cell projection assembly (inferred); spermatogenesis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); membrane (inferred); motile cilium (inferred); INTERACTS WITH (-)-demecolcine; amiodarone; benzo[a]pyrene 2 2 2 q11.2 93818739 93975875 - 99613724 99771187 - 98997261 99154724 - 1580863;6480464;8554872 11179690;12477932;15107545;16189514;16344560;16406020;16777103;18000009;20797700;21198756;21926972;24294352 80705 B8ZZZ9;F8WA32;Q9BZW7 ABBA01073951;ABBA01073952;ABBA01073953;ABBA01073954;ABBA01073955;ABBA01073956;ABBA01073957;ABBA01073958;ABBA01073959;AC019097;AC092587;AC110083;AF254756;AK304328;AK313354;AMYH02004391;AMYH02004392;AMYH02004393;AMYH02004394;AMYH02004395;AY014284;BC028366;BI562202;BX647157;CH471127;DB085678;DC396566;NM_025244;NM_182911;XM_005264022;XM_005264023;XM_005264024;XM_005264025;XM_005264026;XM_005264027;XM_005264029;XM_006712780;XM_006712781;XM_006712782 AAH28366;AAK13079;AAK27309;AAY14820;ABM83039;ABM86233;BAG36156;BAH14161;EAX01888;EAX01889;EAX01890;EAX01891;EAX01892;NP_079520;NP_878915;Q9BZW7;XP_005264079;XP_005264080;XP_005264081;XP_005264082;XP_005264083;XP_005264084;XP_005264086;XP_006712843;XP_006712844;XP_006712845 Hs.120267 1687918;1768679;1768681;2145642 D2S1309;RH93557;WI-18450;WI-18495 CEP4L;CT79 OTTHUMP00000161217;OTTHUMP00000203282;OTTHUMP00000203283;OTTHUMP00000203284;OTTHUMP00000203285;cancer/testis antigen 79;testis development protein NYD-SP7;testis-specific gene 10 protein protein-coding ENSG00000135951 HGNC:14927 06202 607166 VALIDATED 1354320 TSPAN1 tetraspanin 1 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] 1 1 1 p34.1 44928039 44938924 + 46640749 46651634 + 46175077 46185962 + 1580863;6480464 10719184;11739647;12115476;12477932;15489334;16341674;17207965;17913940;18822690;18851943;19017553;19056867;19139842;19190083;19508227;20680643;20890423;21302622;21836059;21988832;22088470;22378020;23754316;23938385;9714763 10103 O60635 ABBA01050845;AF054838;AF065388;AF133425;AK313774;AL672043;AMYH02000952;AMYH02000953;BC000695;BC007290;BC013404;BM856468;BM908049;CH471059;NM_005727 AAC17119;AAC69714;AAF08364;AAH07290;AAH13404;ACE86997;ACE87686;ADQ33140;BAG36512;EAX06938;EAX06939;EAX06940;EAX06941;NP_005718;O60635 Hs.38972 1334574;2181943 G15732;SHGC-74773 9030418M05Rik;NET-1;NET1;RP11-322N21.1;TM4C;TM4SF;TSPAN-1 OTTHUMP00000008900;tetraspan 1;tetraspanin-1 APPROVED protein-coding ENSG00000117472 HGNC:20657 18232 613170 REVIEWED 1602455 TSPAN10 tetraspanin 10 ENCODES a protein that exhibits enzyme binding; INVOLVED IN establishment of protein localization to organelle; FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; cisplatin; hydralazine 17 17 17 q25.3 76254397 76260803 + 79609349 79615779 + 81642323 81648749 + 6480464 12107410;12477932;14702039;16344560;21139048;21697133 83882 F1T0E7;F1T0E8;Q6PJ65;Q9H1Z9 AB593081;AB593082;ABBA01032158;AC139530;AF325213;AK096926;AMYH02034133;BC021923;BC032802;BG760374;BM710905;CH471099;DA626003;DA912496;KF459694;NM_001290212;NM_031945;NR_110866 AAG42857;AAH21923;AAH32802;BAJ84021;BAJ84022;EAW89665;NP_001277141;NP_114151;Q9H1Z9 Hs.740811 5015619;5037552 D11S3114;D8S2279 FLJ39607;OCSP oculospanin;tetraspanin-10;tspan-10 protein-coding ENSG00000182612 HGNC:29942 17655 VALIDATED 1604416 TSPAN11 tetraspanin 11 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; progesterone; trichostatin A 12 12 12 p11.21 36222678 36292351 + 31079536 31149537 + 30926904 30996602 + 6480464;8554872 12477932;12975309;14702039 441631 A1L157;F5H195;F5H2P0 ABBA01068090;ABBA01068091;AC008013;AC008150;AK024399;AK293947;AK300920;AMYH02026271;AY358804;BC127660;BC127661;BC146917;BC146922;KF510395;NM_001080509 A1L157;AAI27661;AAI27662;AAI46918;AAI46923;AAQ89164;BAG57324;BAG62552;NP_001073978 Hs.505141 1669275;1680409;1687830;1694596;1721421;1725853;1847910 G43293;G59562;G62404;RH39715;RH47789;RH78364;RH79774 VSSW1971 OTTHUMP00000238855;OTTHUMP00000238856;OTTHUMP00000238857;tetraspanin-11;tspan-11 protein-coding ENSG00000110900 HGNC:30795 VALIDATED 1322379 TSPAN12 tetraspanin 12 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] 7 7 7 q31.31 115236877 115307696 - 120427374 120498420 - 120787320 120858366 - 1580863;6480464;7240710;8554872;8699517 10719184;11739647;12477932;12690205;12853948;12975309;19401682;19587294;19837033;20159111;20159112;20301326;21334594;21552475;21626674;21640790;22427576;23955570;24250222;9847074 23554 C9IZ82;C9J9U1;C9JC05;C9JQM0;H7C0X9;O95859 ABBA01057766;AC004456;AF124522;AK299247;AK307161;AK312239;AMYH02016659;AMYH02016660;AY358703;BC031265;BF338835;BI964728;CH236947;CH471070;NG_023203;NM_012338;XM_005250239 AAD17317;AAH31265;AAQ89066;AAQ96879;ABM84625;BAG35172;BAG61278;EAL24349;EAW83543;EAW83544;EAW83545;NP_036470;O95859;XP_005250296 Hs.16529 1652476;1675742;2109963;2160619 GDB:6028556;RH46586;STS-H69524;TM4SF12_9367 EVR5;NET-2;NET2;TM4SF12 OTTHUMP00000211223;OTTHUMP00000211224;OTTHUMP00000211229;tetraspan NET-2;tetraspanin-12;transmembrane 4 superfamily member 12;tspan-12 APPROVED protein-coding ENSG00000106025 HGNC:21641 15509 613138;613310 REVIEWED 1349307 TSPAN16 tetraspanin 16 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] 19 19 19 p13.2 11301683 11332546 + 11406798 11437672 + 11296139 11326996 + 737633;1580863;6480464;8554872 12477932 10500248;23505323 26526 K7EMI8;Q9UKR8 ABBA01029863;ABBA01029864;AC011472;AC024575;AC098777;AI688554;AMYH02035526;AW169944;BC029908;BM560276;CH471106;DB457828;HC007360;HC044645;HY051653;NM_001282509;NM_001282510;NM_012466;NR_104199 AAH29908;CBH19485;CBH30652;EAW84187;NP_001269438;NP_001269439;NP_036598;Q9UKR8 Hs.579784 1672504;1725697;1796628 G62051;HSC1UF062;RAB3D_775 TM-8;TM4-B;TM4SF16 tetraspanin TM4-B;tetraspanin-16;transmembrane 4 superfamily member 16;tspan-16 APPROVED protein-coding ENSG00000130167 HGNC:30725 18197 REVIEWED 1351907 TSPAN15 tetraspanin 15 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q22.1 64487632 64543834 + 71176821 71271569 + 69425182 69507667 + 1580863;6480464 10719184;11739647;12037680;12477932;12975309;15489334;16385451;17192395;17207965;21900206;23006423 23555 H7C285;O95858 ABBA01019607;ABBA01019608;ABBA01019609;AC016821;AF120266;AMYH02023272;AMYH02023273;BC003157;BC004161;BI457070;CH471083;JA738641;KF455254;NM_012339;XM_005269666;XM_005269667;XM_006717738 AAD17295;AAH03157;AAH04161;ADQ31646;CCF76973;EAW54326;EAW54327;NP_036471;O95858;XP_005269723;XP_005269724;XP_006717801 Hs.499941 1683305;1756695;2109965 RH92663;SHGC-143786;TM4SF15_9368 2700063A19Rik;NET-7;NET7;TM4SF15 OTTHUMP00000019726;OTTHUMP00000197068;tetraspan NET-7;tetraspanin-15;transmembrane 4 superfamily member 15;transmembrane 4 superfamily member tetraspan NET-7;tspan-15 APPROVED protein-coding ENSG00000099282 HGNC:23298 15511 613140 REVIEWED 1346680 TSPAN17 tetraspanin 17 This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. [provided by RefSeq, Mar 2014] 5 5 5 q35.3 172414193 172425864 - 176074388 176086059 + 176647387 176659058 + 6480464;8554872 10531035;10531037;11214971;12477932;14702039;17207965;17353931 26262 D6RBW9;D6RDX8;D6RI03;H0Y9A5;J3KNG2;Q96FV3 ABBA01033484;AC091934;AF174603;AK024427;AMYH02012818;AY037146;BC010405;BC067105;BG703362;BI756001;BU624765;CA417292;CH471195;CT002861;NG_034043;NM_001006616;NM_012171;NM_130465;XM_005265876 AAF04524;AAH10405;AAH67105;AAK67627;ADQ32153;BAB15717;EAW85053;EAW85054;EAW85055;EAW85056;EAW85057;EAW85058;EAW85059;EAW85060;EAW85061;NP_001006617;NP_036303;NP_569732;Q96FV3;XP_005265933 Hs.532129 2151915;2185543 D5S1653E;STS-R58948 FBX23;FBXO23;MGC14859;MGC71255;TM4SF17 F-box only protein 23, transmembrane 4 superfamily member 17;OTTHUMP00000223387;OTTHUMP00000223388;OTTHUMP00000223389;OTTHUMP00000223391;OTTHUMP00000223392;OTTHUMP00000223393;tetraspan protein SB134;tetraspanin-17;transmembrane 4 superfamily member 17;tspan-17 protein-coding ENSG00000048140 HGNC:13594 18198 VALIDATED 1606713 TSPAN19 tetraspanin 19 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene 12 12 12 q21.31 85071684 85093647 - 85408090 85430055 - 85014311 85036277 - 6480464;8554872 14702039;16541075;8889548 144448 F8VV50;F8VZ36;H0YFW1;J3KQT2;P0C672 ABBA01053445;ABBA01053446;AC025418;AK126325;AMYH02026870;BX116902;CB852874;CB854430;CH471054;KF454893;KF511184;NM_001100917;XM_005268669;XM_006719250 EAW97391;NP_001094387;P0C672;XP_005268726;XP_006719313 Hs.156962 2129479;2165510 D12S855;STS-N40969 FLJ44351 OTTHUMP00000232097;putative tetraspanin-19;tspan-19 protein-coding ENSG00000231738 HGNC:31886 VALIDATED 1323423 TSPAN13 tetraspanin 13 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] 7 7 7 p21.1 16773658 16804467 + 16793351 16824161 + 16753726 16784536 + 1580863;6480464 10719184;10931946;11739647;12477932;12690205;12975309;14702039;15489334;15958618;16303743;17486367;19148481;19322201;21832049;23535033;23864651;27075;8889548 27075 O95857;Q6FGK0 ABBA01056634;AC073333;AF100759;AF120265;AK026587;AK075475;AK093487;AK316595;AMYH02015306;AY358995;BC033863;CB852023;CH236948;CH471073;CR542107;NM_014399 AAD17294;AAD43023;AAH33863;AAQ89354;ABM82985;ABM86178;BAG38182;BAG52148;CAG46904;EAL24284;EAW93680;EAW93681;NP_055214;O95857 Hs.364544 1649620;1679708;1698922;1718231;2140590 D7S2019;RH103030;RH122885;RH48946;RH75359 FLJ22934;NET-6;NET6;TM4SF13 OTTHUMP00000158500;tetraspan NET-6;tetraspanin-13;transmembrane 4 superfamily member 13;transmembrane 4 superfamily member tetraspan NET-6;tspan-13 APPROVED protein-coding ENSG00000106537 HGNC:21643 15510 613139 REVIEWED 1605907 TSPAN18 tetraspanin 18 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; atrazine 11 11 11 p11.2 44932703 45100673 + 44748731 44953978 + 44727181 44932427 + 6480464;8554872 11756464;12477932;12975309;14702039;16303743;16344560;17192395;19240061;20379614;22037552;22632162;23505562 90139 E5RFP3;E5RFV0;E9PKD8;E9PL40;E9PPB7;H0YB98;Q96SJ8 ABBA01060767;AC092733;AC104241;AK027515;AK027715;AK075547;AMYH02024688;AMYH02024689;AMYH02024690;AX465481;AX877424;AY358087;BC019342;BF110241;CH471064;CS300560;DA067480;DA603407;DA734054;KF455378;KF510375;NM_130783;XM_005253217;XM_006718372;XM_006718373 AAH19342;AAQ88454;ADZ16090;BAB55318;BAC11690;CAD42368;CAE89720;CAK32224;EAW68058;EAW68059;EAW68060;EAW68061;EAW68062;NP_570139;Q96SJ8;XP_005253274;XP_006718435;XP_006718436 Hs.385634 1337285;1338482;1656465;1665253;1665255;1675921;1683383;1686965;1713371;1728233;1730069;1737709;1737919;1739213;1753687;1754995;1855937;2117244;2143254;2172293;7186450;7187500 A001Z17;D11S1361;D11S3305;D11S3526;D11S3959;D11S4103;D11S554;FB23H3;FB24D9;G19814;G63540;RH119540;RH18414;RH66436;RH80358;RH80852;RH98379;SHGC-107625;SHGC-141935;WI-15964 FLJ14609;TSPAN OTTHUMP00000225273;OTTHUMP00000225294;tetraspanin-18;tspan-18 protein-coding ENSG00000157570 HGNC:20660 17435 VALIDATED 1344307 TSPAN2 tetraspanin 2 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 113819851 113861367 - 115590632 115632121 - 115048011 115089500 - 1580863;6480464;8554872 11739647;11756464;12477932;14702039;15489334;16710414;20237496;20379614;21988832;23294458;23793025;9714763 10100 B1AKP1;B1AKP2;O60636 ABBA01068472;AF054839;AK022144;AK315385;AL109660;AMYH02001787;BC021675;BG697236;BQ067895;CH471122;CQ834272;GU971730;JA738737;KF455021;NM_005725;XM_005270340 AAC69715;AAH21675;ABM84616;ABM84617;ABM84618;ABM84619;ABW03588;ADF80915;BAG37778;CAH05351;CCF77021;EAW56627;NP_005716;O60636;XP_005270397 Hs.310458 1678585;1690856;1717237;1736906 D1S2212;RH122033;RH92905;RH98334 6330415F13Rik;FLJ12082;NET3;RP4-666F24.2;TSN2;TSPAN-2 OTTHUMP00000013651;OTTHUMP00000013652;OTTHUMP00000038317;new EST tetraspan 3;tetraspan 2;tetraspan NET-3;tetraspan TM4SF;tetraspanin 2 isoform;tetraspanin-2 APPROVED protein-coding ENSG00000134198 HGNC:20659 18233 613133 REVIEWED 1320454 TSPAN31 tetraspanin 31 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 57796378 57799620 + 58138784 58142026 + 57745001 57748243 + 1580863;6480464 10101594;11337467;12477932;14702039;15024701;15489334;1661131;19322201;19913121;20237496;20628086;7531445;7789984;8134123;9192850;9989829 6302 B4DFJ7;F8VNT7;F8VP43;F8VS78;F8VVF8;F8VW54;F8VWE0;Q12999 AA811975;AB209699;ABBA01026694;AC025165;AK090502;AK294128;AK315765;AMYH02026593;AU098749;BC010377;BX647402;CH471054;CR407647;NM_005981;S78432;U01160;U81031;XM_005269074 AAA17782;AAC39524;AAD14281;AAH10377;ABM83803;ABM87126;BAD92936;BAG38117;BAG57458;CAG28575;EAW97054;EAW97055;EAW97056;EAW97057;NP_005972;Q12999;XP_005269131 Hs.632708 1646015;1657795;1744027;1744979;1744981;1744983;1744985;1744987;1745001;1745019;1745021;1745023;1745025;2108439;2139876;2189393;5020946;5021369;5022651 D11S2921;D12S1972;GDB:384863;GDB:592540;GDB:592552;GDB:592556;GDB:592565;GDB:592572;GDB:592739;GDB:593059;GDB:593062;GDB:593065;GDB:593068;L17796;L17971;MARC_3823-3824:991937736:1;SAS_8609;SHGC-31471;STS-M14505 SAS OTTHUMP00000243617;OTTHUMP00000243622;sarcoma amplified sequence;sarcoma-amplified sequence;tetraspanin-31;transmembrane 4 protein;tspan-31 APPROVED protein-coding ENSG00000135452 HGNC:10539 01626 181035 REVIEWED 1347181 TSPAN6 tetraspanin 6 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013] X X X q22 100402531 100410530 - 99882105 99892101 - 100627108 100637104 - 1580863;6480464 11739647;12477932;12681443;12761501;12975309;15146197;15489334;15772651;16169070;16303743;16314869;16344560;19056867;21900206;21906983;21963094;22091964;22908223;8889549;9194523;9714763;9782095 7105 O43657 AB097016;AB209876;ABBA01064145;ABBA01064146;ABBA01064147;ABBA01064148;ABBA01064149;ABBA01064150;ABBA01064151;ABBA01064152;AF043906;AF053453;AF133426;AK075072;AK299176;AK300852;AK309581;AK315773;AL035608;AMYH02040057;AY358825;BC012389;BI458635;BT006977;CH471115;CN274931;CR457115;CX760536;CX868833;DA038474;DA147330;N64145;NG_012534;NM_001278740;NM_001278741;NM_001278742;NM_001278743;NM_003270;U84895 AAC64257;AAC69710;AAD00560;AAF08365;AAH12389;AAP35623;AAQ89184;ABM81594;ABM84775;BAC77369;BAD93113;BAG52059;BAG61222;BAG62503;CAG33396;EAX02809;EAX02810;EAX02811;NP_001265669;NP_001265670;NP_001265671;NP_001265672;NP_003261;O43657 Hs.43233;Hs.587521 1686969;2176411;2218832 DXS8329;RH76329;TM4SF6__5271 T245;TM4SF6;TSPAN-6 A15 homolog;OTTHUMP00000023652;putative NF-kappa-B-activating protein 321;tetraspan TM4SF;tetraspanin TM4-D;tetraspanin-6;transmembrane 4 superfamily member 6 APPROVED protein-coding ENSG00000000003 HGNC:11858 02179 300191 REVIEWED 1602132 TSPAN5 tetraspanin 5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] 4 4 4 q23 96686187 96874635 - 99391518 99579812 - 98470367 98658661 - 6480464 10719184;11739647;12477932;14702039;15489334;17207965;19460752;20379614;21832049;21906983;9714763 10098 B7Z317;D6R9N6;D6RAR1;D6RBT5;D6RGZ7;H0Y8W4;P62079 ABBA01063657;ABBA01063658;AC058823;AC074120;AC108159;AC114811;AF053455;AF065389;AI089708;AK055659;AK126702;AK295385;AK315723;AMYH02009788;AMYH02009789;AMYH02009790;AMYH02009791;BC009704;CH471057;CR541809;CR541829;NM_005723;XM_005262680;XR_244617 AAC17120;AAC69712;AAH09704;ACE86835;ACE87522;ADQ31851;BAG38079;BAH12053;CAG46608;CAG46628;EAX06074;NP_005714;P62079;XP_005262737 Hs.118118 1298248;1644205;1646197;1650046;1656325;1657746;1659974;1661667;1762199;1772481;1776080;1853416;1857903;2109967;2126982;2127218;2128866;2133926;2139557;2140687;2140689;2172154;2186446;5109281 A002B01;D1S1425;D4S1018;D4S1025;D4S1647;D4S2529E;D4S2807;D4S3289;D4S535;G19871;SHGC-146078;SHGC-24723;SHGC-33897;SHGC-50175;SHGC-51484;SHGC-56798;SHGC-59702;SHGC-67253;SHGC-67838;STS-AA004443;STS-AA009676;STS-H75492;STS-N62647;TM4SF9_9040 NET-4;NET4;TM4SF9;TSPAN-5 OTTHUMP00000161626;OTTHUMP00000219690;OTTHUMP00000219691;tetraspan 5;tetraspan NET-4;tetraspan TM4SF;tetraspanin-5;transmembrane 4 superfamily member 9;transmembrane 4 superfamily, member 8 APPROVED protein-coding ENSG00000168785 HGNC:17753 15513 613136 REVIEWED 1314069 TSPAN4 tetraspanin 4 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 880283 934195 + 842824 867116 + 842824 867116 + 1580863;6480464 10229664;10734060;10741407;11591653;11739647;12477932;14671302;14702039;15489334;16341674;20237496;21963094;22236579;23383108;9360996;9714763 7106 A8MVV6;E9PMX4;E9PN41;E9PPX8;E9PSH3;J3KNL1;J3KQ42;O14817 ABBA01015212;ABBA01015213;ABBA01015214;AF022813;AF054841;AK054788;AK095212;AK126456;AK291089;AL543667;AMYH02024153;AMYH02024154;AP006623;AW204812;AY415329;BC000389;BC019314;BC093031;BF530006;BG752017;BI820547;BM555783;BM755435;BQ679002;BT006776;CH471158;CR457108;NM_001025234;NM_001025235;NM_001025236;NM_001025237;NM_001025238;NM_001025239;NM_003271;XM_005253102;XM_005253104;XM_006718287 AAC51864;AAC69717;AAH00389;AAH19314;AAH93031;AAP35422;BAF83778;CAG33389;EAX02409;EAX02410;EAX02411;NP_001020405;NP_001020406;NP_001020407;NP_001020408;NP_001020409;NP_001020410;NP_003262;O14817;XP_005253159;XP_005253161;XP_006718350 Hs.654836 1774445;1778699;2136711;2138328;2140685;2144767;2168680;5093252 A009K14;D11S2243E;G32609;RH121967;RH41790;RH47994;RH48177;STS-W47645 NAG-2;NAG2;TM4SF7;TSPAN-4 OTTHUMP00000164428;OTTHUMP00000205756;OTTHUMP00000205757;OTTHUMP00000205758;OTTHUMP00000229251;OTTHUMP00000229252;OTTHUMP00000229253;novel antigen 2;tetraspan;tetraspan TM4SF;tetraspanin-4;transmembrane 4 superfamily member 7 APPROVED protein-coding ENSG00000214063 HGNC:11859 04033 602644 REVIEWED 1604171 TSPAN33 tetraspanin 33 ENCODES a protein that exhibits enzyme binding; INVOLVED IN establishment of protein localization to plasma membrane; protein maturation; FOUND IN plasma membrane; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzene 7 7 7 q32.1 123581313 123606255 + 128784712 128809534 + 129144752 129169693 + 6480464 12477932;12690205;15489334;16213355;16242907;17158226;17207965;23128233;24211713 340348 Q86UF1 ABBA01057643;AC011005;AF276891;AK000208;AMYH02016729;AW089489;AY236849;BC044244;CH236950;CH471070;HY012137;KF510277;NM_178562;XM_006715960 AAH44244;AAO91940;AAQ14314;ADQ33116;EAL24103;EAW83712;EAW83713;EAW83714;NP_848657;Q86UF1;XP_006716023 Hs.27267 2168305;2176551 D7S2096E;D7S2797 MGC50844;PEN;PEN.;hPen;tspan-33 OTTHUMP00000212928;penumbra;proerythroblast new membrane;tetraspanin-33 protein-coding ENSG00000158457 HGNC:28743 14669 610120 VALIDATED 1602131 TSPAN3 tetraspanin 3 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Multiple alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Dec 2009] 15 15 15 q24.3 54274355 54301711 - 77336359 77363570 - 77044017 77071228 - 6480464 11309411;11739647;12477932;14702039;15489334;16189514;16303743;16344560;17207965;1840594;19056867;21139048;21906983;21963094;24250222;9714763 10099 H0YKJ9;H0YMH8;O60637 AA554982;ABBA01060560;AC090181;AF054840;AF133423;AK001305;AK001310;AK001326;AK027793;AK075336;AK075482;AK293677;AK298157;AMYH02030846;BC000704;BC004280;BC009248;BC011206;CH471136;DA359645;DB449004;M69023;NM_001168412;NM_005724;NM_198902 AAC69716;AAF08362;AAH00704;AAH04280;AAH09248;AAH11206;ADQ31731;BAA91613;BAA91615;BAA91627;BAG52114;BAG52152;BAG57119;BAG60431;EAW99209;EAW99210;EAW99211;NP_001161884;NP_005715;NP_944492;O60637 Hs.744863 1652161;1697946 RH102502;SHGC-32751 TM4-A;TM4SF8;TSPAN-3 OTTHUMP00000184898;OTTHUMP00000184899;tetraspan 3;tetraspan TM4SF;tetraspanin TM4-A;tetraspanin-3;transmembrane 4 superfamily member 8 APPROVED protein-coding HGNC:17752 15512 613134 REVIEWED 6481066 TSPAN9-IT1 TSPAN9 intronic transcript 1 (non-protein coding) p13.33 100874356 AC005912 ncrna HGNC:41462 1349674 TSPEAR-AS1 TSPEAR antisense RNA 1 21 21 q22.3 45925927 45936458 + 44506044 44516575 + 10830953;16344560 54082 ABBA01074169;AJ003491;AJ003549;AJ003550;AJ003554;AMYH02037916;AP001066;DB070595;HG511898;NG_033806;NR_103707 Hs.570444;Hs.580950;Hs.601042 AP001066.10;C21orf31 APPROVED ncrna ENSG00000235890 HGNC:1271 VALIDATED 736010 TSPAN8 tetraspanin 8 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q14.1-q21.1 71182199 71215102 - 71518877 71551779 - 71125094 71157999 - 1580863;6480464;8554872 10229664;11690710;11739647;12477932;12939584;15489334;17579117;18317468;18365756;18372903;18567820;18591388;18714373;19020323;19020324;19247373;19324937;19502414;19602701;19670153;19720844;19741467;19794065;19833888;19833889;19862325;19933996;20052686;20075150;20161779;20203524;20360734;20379614;20490451;20571754;20581827;20712903;20816152;20879858;20889853;20927120;20937409;21081927;22679508;2395876;8125298;8661157 7103 P19075 ABBA01026517;AC025575;AK223022;AK313112;AMYH02026733;AMYH02026734;BC005246;BC070168;CH471054;M35252;NM_004616;XM_006719583 AAA35709;AAH05246;ADZ15677;BAD96742;BAG35934;EAW97257;NP_004607;P19075;XP_006719646 Hs.170563 1728359;1774200;2176328 D12S1465;D12S1964;G63461 CO-029;TM4SF3 OTTHUMP00000241500;OTTHUMP00000241501;OTTHUMP00000241502;tetraspanin-8;transmembrane 4 superfamily member 3;tspan-8;tumor-associated antigen CO-029 APPROVED protein-coding ENSG00000127324 HGNC:11855 02865 600769 REVIEWED 1602896 TSPAN9 tetraspanin 9 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009] 12 12 12 p13.33-p13.32 4800573 5009494 + 3186521 3395730 + 3077355 3286564 + 6480464 10719184;11739647;12477932;15489334;17192395;18795891;18799160;19204726;19322201;19851296;20198315;21139048;23746317;24529757;8125298 10867 B5MD23;E9PHL0;O75954 ABBA01048781;ABBA01048782;ABBA01048783;ABBA01048784;ABBA01048785;ABBA01048786;ABBA01048787;AC005865;AC005912;AC125807;AF089749;AF217967;AK027366;AK223179;AMYH02025895;AMYH02025896;AMYH02025897;AW025505;AY523992;BC034280;BC071881;CH471116;CR542109;NM_001168320;NM_006675;XM_006718956;XM_006718957 AAC35859;AAG17210;AAH71881;AAT01541;BAD96899;BAG51307;CAG46906;EAW88867;EAW88868;EAW88869;NP_001161792;NP_006666;O75954;XP_006719019;XP_006719020 Hs.504517 1339361;1660705;1664375;1683070;1693894;1693896;1733620;1754345;1759529;1762423;1767975;1782676;1782752;2109553;2156242;2167353;2179721;2180744 D12S1403;D12S1569;D12S1626;D12S961;G41249;G42637;G42638;NET-_5_9188;RH65872;RH76323;SHGC-132370;SHGC-146253;SHGC-150872;SHGC-154079;SHGC-172085;SHGC-24138;SHGC-32621;WI-10035 NET-5;NET5;PP1057 OTTHUMP00000197071;OTTHUMP00000197072;new EST tetraspan 5;tetraspan NET-5;tetraspanin-9;transmembrane 4 superfamily member tetraspan NET-5;tspan-9 APPROVED protein-coding ENSG00000011105 HGNC:21640 14823 613137 REVIEWED 1352570 TSPAN7 tetraspanin 7 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked mental retardation and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008] X X X p11.4 42558371 42685804 + 38420731 38548172 + 38561478 38688918 + 1580863;6480464;7240710;8554872;8699517 10229664;10449641;10617319;10655063;11161835;11387256;11739647;12070254;12477932;12777533;14735593;15489334;16169070;17353931;17989173;18000879;19339915;19535787;19736351;19894777;20479760;20630051;20850477;20951001;21078624;22213152;22445342;23284715;7768645;8168850;8325628;8420826 7102 B4DDG0;B4DEA5;B4DEB8;F8WC96;F8WF47;F8WF53;P41732 AA757687;AB062057;AB102401;AB102402;AB102403;AB102404;AB102405;AB102406;AB102407;AB102408;AB102409;AB102410;AB102411;AB102412;AB102413;AB102414;AB102415;AB102416;AB102417;AB102418;AB102419;AB102420;AB102461;AB102462;AB102463;AB102464;AB102465;AB102466;AB102467;AB102468;AB102469;AB102470;AB102471;AB102472;AB102473;AB102474;AB102475;AB102476;AB102477;AB102478;AB102479;AB102480;AB102491;AB102492;AB102493;AB102494;AB102495;AB102496;AB102497;AB102498;AB102499;AB102500;AB102501;AB102502;AB102503;AB102504;AB102505;AB102506;AB102507;AB102508;AB102509;AB102510;AB102521;AB102522;AB102523;AB102524;AB102525;AB102526;AB102527;AB102528;AB102529;AB102530;AB102531;AB102532;AB102533;AB102534;AB102535;AB102536;AB102537;AB102538;AB102539;AB102540;AB102665;ABBA01047000;ABBA01047001;ABBA01047002;ABBA01047003;ABBA01047004;ABBA01047005;ABBA01047006;ABBA01047007;ABBA01047008;ABBA01047009;ABBA01047010;ABBA01047011;ABBA01047012;AF241726;AF241727;AJ250562;AK293178;AK293534;AK293552;AK312343;AMYH02039174;BC018036;CH471141;D10653;D29808;DB475293;KF459057;KF510186;L10373;NG_009160;NM_004615 AAH18036;ABM83019;ABM86497;BAA01501;BAA06191;BAB55824;BAB55825;BAC80900;BAC80901;BAC80902;BAC80903;BAC80904;BAC80905;BAC80906;BAC80907;BAC80908;BAC80909;BAC80910;BAC80911;BAC80912;BAC80913;BAC80914;BAC80915;BAC80916;BAC80917;BAC80918;BAC80919;BAC80930;BAC80931;BAC80932;BAC80933;BAC80934;BAC80935;BAC80936;BAC80937;BAC80938;BAC80939;BAC80940;BAC80941;BAC80942;BAC80943;BAC80944;BAC80945;BAC80946;BAC80947;BAC80948;BAC80949;BAC80960;BAC80961;BAC80962;BAC80963;BAC80964;BAC80965;BAC80966;BAC80967;BAC80968;BAC80969;BAC80970;BAC80971;BAC80972;BAC80973;BAC80974;BAC80975;BAC80976;BAC80977;BAC80978;BAC80979;BAC80990;BAC80991;BAC80992;BAC80993;BAC80994;BAC80995;BAC80996;BAC80997;BAC80998;BAC80999;BAC81000;BAC81001;BAC81002;BAC81003;BAC81004;BAC81005;BAC81006;BAC81007;BAC81008;BAC81009;BAC81134;BAG35264;BAG56721;BAG57016;BAG57029;CAB65594;EAW59437;EAW59438;NP_004606;P41732 Hs.441664 1339686;1663218;1669371;1701770;1702406;1702856;1723783;1796962;1852259;2139430;2147186;2183851;2220284 AB047628;AL023926;AL023948;DXS1111;DXS1409;DXS1692E.1;DXS8345;DXS989;RH118630;RH17362;RH46534;RH68281;TM4SF2_281 A15;CCG-B7;CD231;DXS1692E;MRX58;MXS1;TALLA-1;TM4SF2;TM4SF2b CD231 antigen;OTTHUMP00000215645;OTTHUMP00000215926;OTTHUMP00000219544;T-cell acute lymphoblastic leukemia associated antigen 1;T-cell acute lymphoblastic leukemia-associated antigen 1;cell surface glycoprotein A15;membrane component chromosome X surface marker 1;membrane component, X chromosome, surface marker 1;tetraspanin protein;tetraspanin-7;transmembrane 4 superfamily 2b;transmembrane 4 superfamily member 2;transmembrane protein A15;tspan-7 APPROVED protein-coding ENSG00000156298 HGNC:11854 02107 300096;300210 REVIEWED 1344496 TSPEAR thrombospondin-type laminin G domain and EAR repeats This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 21 21 21 q22.3 31025451 31239063 - 45917775 46131495 - 44497892 44711580 - 737768;6480464;8699517;7240710;8554872 12095917 10830953;12477932;15489334;20494980;22678063 54084 A8MW19;Q14C60;Q8WU66 ABBA01074169;ABBA01074170;AJ487962;AL773602;AL773604;AMYH02037915;AMYH02037916;AMYH02037917;AP001066;AP001067;BC021197;BC115414;BC115415;CH471079;KC877920;KC877921;KC877926;KF511423;NG_033806;NM_001272037;NM_144991;XM_005261157 AAH21197;AAI15416;CAD32309;EAX09401;EAX09402;EAX09403;NP_001258966;NP_659428;Q8WU66;XP_005261214 Hs.660703 1657736;1661280;1700712;1730924;1790653;2119461;2131259;2143776;2148922;2162957;2219870;2219872;5113175;7187920 D21S171;KRTAP12-3__6347;KRTAP12-4__6348;RH103979;RH75464;SHGC-51854;SHGC-51969;SHGC-51970;SHGC-51971;SHGC-7553;SHGC-87699;SHGC-87708;STS_CEB282 C21orf29;DFNB98;MGC11251;TSP-EAR OTTHUMP00000038670;OTTHUMP00000109540;thrombospondin-type laminin G domain and EAR repeat-containing protein;thrombospondin-type laminin G domain and EAR repeats-containing protein APPROVED protein-coding ENSG00000175894 HGNC:1268 09845 612920;614861 REVIEWED 1347547 TSPEAR-AS2 TSPEAR antisense RNA 2 INTERACTS WITH silicon dioxide; thapsigargin; tunicamycin 21 21 21 q22.3 31044774 31046536 + 45937098 45938860 + 44517215 44518977 + 6480464 12036297;12477932;15489334;16344560 114043 P59090 ABBA01074169;AF426269;AF426270;AMYH02037916;AP001066;BC016690;BC064517;BC101650;BC101654;CH471079;DA908807;LN608882;NG_033806;NR_026547;NR_026548 AAM53525;AAM53526;EAX09421;P59090 Hs.592163 2148922;5113175;5493209 RH75464;SHGC-87699;UniSTS:485313 MGC126699;MGC126703 APPROVED ncrna HGNC:16428 10775 VALIDATED 1606125 TSPO2 translocator protein 2 ENCODES a protein that exhibits cholesterol binding (ortholog); INVOLVED IN transport (inferred); FOUND IN endoplasmic reticulum (ortholog); INTERACTS WITH pirinixic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2-butoxyethanol (ortholog) 6 6 6 p21.1 42562918 42564757 + 41010237 41012076 + 41042498 41044337 + 6480464 12477932;18636124;18676680;19625176;19729679;20379614 222642 Q5TGU0 ABBA01050761;AI052224;AL031778;AMYH02013601;BC104440;BC104441;BC137560;BC137565;BC144710;BU655765;BU657409;CH471081;CS072422;NM_001010873;NM_001159726 AAI04441;AAI04442;AAI37561;AAI37566;AAI44711;CAI93560;EAX04008;NP_001010873;NP_001153198;Q5TGU0 Hs.357392 5493565 UniSTS:487243 BZRPL1;MGC129806;MGC129807 OTTHUMP00000016363;OTTHUMP00000214126;benzodiazapine receptor (peripheral)-like 1;peripheral-type benzodiazepine receptor-like protein 1 APPROVED protein-coding ENSG00000112212 HGNC:21256 16569 VALIDATED 1350482 TSPY11P testis specific protein, Y-linked 11, pseudogene Y Y Y p11.2 3081403 3084135 - 6134588 6137316 + 6266547 6269275 + 12815422;9847074 347584 AC006335;NG_003077 TSPYP1 APPROVED pseudo HGNC:23903 INFERRED 737564 TSPO translocator protein (18kDa) Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012] 22 22 22 q13.31 27457910 27469623 + 43547520 43559248 + 43151514 43163242 + 1358442;1580863;6480464 11215759 10591208;11304832;12374690;12477932;12547158;1326278;14584048;14626449;14630713;14688214;15041726;15296476;15461802;15473257;15489334;15648546;15769477;16189298;16511838;1654492;16822554;16868661;16919618;17561806;18054208;18158327;18256758;1847678;18670869;18791274;18806692;19056867;19077109;19170196;19525461;19525468;19598235;19617321;19668118;19692168;19789311;19846611;20056222;20085808;20222126;20424634;20491643;20600583;20872081;20877624;21139048;21320609;21498529;21958735;22008728;22050847;22127435;22238156;22348616;22472607;22528235;22547081;22616995;22629859;22645299;22732722;22892349;22956240;22968319;23080515;23281426;23718075;23785173;23850810;23942012;23967175;24050790;24397957;24403586;24599476;24643083;24814875;25057196;3018615;7626442;7721091;8121239;8307574;9027587;9915832 706 B1AH87;B1AH88;J3QLD3;O76068;P30536 AB076379;AB076380;AB076381;ABBA01017907;AF075589;AF075590;AMYH02038471;AY383615;AY998017;BC001110;BG749252;BG750685;BG752086;BP420304;BQ057964;BT006949;CH471138;CR456409;CR457007;L21950;L21951;L21954;M36035;NM_000714;NM_001256530;NM_001256531;NR_046308;U12421;Z82214 AAA03652;AAA18227;AAA18228;AAA83252;AAC31172;AAC31173;AAH01110;AAP35595;AAQ75703;AAY45787;ABM81639;BAC00957;BAC00958;BAC00959;CAG30295;CAG33288;EAW73288;EAW73289;EAW73290;NP_000705;NP_001243459;NP_001243460;P30536 Hs.202 1684608;2161347 RH11057;RH27789 BPBS;BZRP;DBI;IBP;MBR;PBR;PBS;PKBS;PTBR;mDRC;pk18 OTTHUMP00000197857;OTTHUMP00000197858;OTTHUMP00000198250;OTTHUMP00000198251;benzodiazepin receptor;benzodiazepine peripheral binding site;mitochondrial benzodiazepine receptor;peripheral benzodiazepine receptor;peripheral-type benzodiazepine receptor;translocator protein APPROVED protein-coding ENSG00000100300 HGNC:1158 15913 109610 REVIEWED 3563582 TSPY10 testis specific protein, Y-linked 10 INVOLVED IN cell differentiation (inferred); cell proliferation (inferred); gonadal mesoderm development (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) Y Y p11.2 9365495 9368285 + 9527899 9530683 + 6480464 12815422;21906983 100289087 C9JPU3;F2Z2I4;P0CV98;Q01534 AC006156;NM_001282469;XM_002344198 NP_001269398;P0CW01;XP_002344239 5113687 RH38674 OTTHUMP00000038901;OTTHUMP00000038902;Testis-specific Y-encoded protein 10 protein-coding ENSG00000236424;ENSG00000279506 HGNC:37473 INFERRED 1347702 TSPY12P testis specific protein, Y-linked 12, pseudogene Y Y Y p11.2 1664079 1666870 + 7554842 7557634 - 7686801 7689593 - 12815422;9847074 377997 ABBA01060149;ABBA01060150;AC007274;NG_003078 TSPYP2 APPROVED pseudo HGNC:23904 INFERRED 1351486 TSPY1 testis specific protein, Y-linked 1 The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Approximately 35 copies of this gene are present in humans, but only a single, nonfunctional orthologous gene is found in mouse. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] Y Y p11.2 9304564 9307359 + 9466955 9469749 + 1580863;2315446;2315445;2315447;6480464 16106251;16618725;17521702 10090875;10747295;10773691;11173833;11173850;12477932;12527192;12773407;12815422;1284595;14684991;14702039;14981720;15037423;15273283;15948118;16035036;16132697;16426576;16456896;16762081;16996029;17234369;17509197;1765369;17881721;18591933;18649364;19324347;19456250;19773397;19917507;20347080;20656323;21204751;21621739;21906983;22286816;23307928;24583132;3479749;7849736;8244388;8798990;8923009;9533010;9678360;9730615 7258 A4FUW6;F5H0K5;Q01534;Q540R4 AC006156;AI002165;AY130858;BC121113;M94892;M94893;M98525;NG_027958;NM_001197242;NM_003308;U58096;X06325 AAA36570;AAA61238;AAB51693;AAI21114;AAN39117;CAA29640;NP_001184171;NP_003299;Q01534 Hs.556121;Hs.647493 5111004;5113598;5113687;5125024 G38360;RH38673;RH38674;RH76258 CT78;DYS14;TSPY;pJA923 OTTHUMP00000246057;cancer/testis antigen 78;testis-specific Y-encoded protein 1 APPROVED protein-coding ENSG00000258992 HGNC:12381 11852 480100 REVIEWED 1347788 TSPY13P testis specific protein, Y-linked 13, pseudogene Y Y Y p11.2 3081404 3084136 - 9743066 9745794 - 9905457 9908185 - 12815422;9847074 378001 ABBA01031143;AC006986;NG_003079 TSPYP3 APPROVED pseudo HGNC:23905 INFERRED 1604156 TSPY14P testis specific protein, Y-linked 14, pseudogene Y Y Y q11.223 8326227 8329037 + 23630015 23632825 + 21468129 21470939 + 12815422;9847074 378013 AC010141;NG_004832 TSPYP4 APPROVED pseudo HGNC:23906 VALIDATED 2796362 TSPY15P testis specific protein, Y-linked 15, pseudogene Y Y Y p11.2 3494504 3503709 + 9385671 9388482 + 9548062 9550873 + 642631 ABBA01031132;ABBA01031133;AC006156;NG_016162 5021742;5115930 sY1725;sY1726 APPROVED pseudo HGNC:37474 INFERRED 3436167 TSPY17P testis specific protein, Y-linked 17, pseudogene Y Y p11.2 6388459 6388970 + 6520418 6520929 + 9847074 100132124 AC010144;NG_029070 2187955 G66122 testis specific protein, Y-linked 17 (pseudogene) APPROVED pseudo HGNC:37713 INFERRED 3077882 TSPY18P testis specific protein, Y-linked 18, pseudogene Y Y Y p11.2 3045658 3046391 + 9707312 9708045 + 9869703 9870436 + 9847074 642796 ABBA01031143;AC006986;NG_016579 2220310 TSPY APPROVED pseudo HGNC:37725 INFERRED 3362198 TSPY19P testis specific protein, Y-linked 19, pseudogene Y Y Y p11.2 3045344 3046391 + 6172343 6173390 - 6304302 6305349 - 100132504 AC006335;NG_022996 2220310 TSPY APPROVED pseudo HGNC:37998 INFERRED 1318659 TSPAN32 tetraspanin 32 This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 2358117 2374304 + 2323195 2339430 + 2302013 2318200 + 1580863;6480464;8554872 10072438;10915772;10950922;11718897;12477932;14759258;15489334;17192395;20709950;23770605;24292274;8469989;9403053 10077 D3YTD1;F8WB10;F8WCN6;G3XAG6;Q96QS1 AA701395;ABBA01032095;ABBA01032096;AC129929;AF125569;AF176070;AF176071;AK128812;AK298692;AK307638;AK310116;AMYH02024189;AMYH02024190;AY039001;AY303780;BC016693;BG506933;CH471158;NM_139022;XM_005252719;XM_005252720;XM_006718117 AAD23580;AAG15840;AAG15841;AAH16693;AAK84431;AAP76185;BAG60852;EAX02498;EAX02499;EAX02500;EAX02501;EAX02502;EAX02503;EAX02504;EAX02505;NP_620591;Q96QS1;XP_005252776;XP_005252777;XP_006718180 Hs.271954 1337684;1677098;1680040;1701204;1745979;1768475;1798402;1798746;1799222;1799538;1801192;1801194;1803596;1804448;1804610;1805476;1806248;1807230;1810778;1810932;1811542;1812806;1820224;1821064;1830348;2092612;2092614;2092626;2092628;2092630;2092632;2092634;2092636;2092638;2092640;2092642;2092644;2092646;2092648;2092650;2092652;2092654;2092656;2092658;2092660;2092662;2092664;2092666;2092668;2092670;2092672;2092674;2092676;2092678;2092680;2092682;2092684;2092686;2092688;2092690;2092692;2092694;2092696;2092698;2092700;2092702;2092704;2092706;2092708;2092710;2092712;2092714;2092716;2092718;2092720;2092722;2092724;2092726;2092728;2092730;2092732;2092734;2092736;2092738;2092740;2092742;2092744;2092746;2092748;2092750;2216918;2216920;2216922;2216924;2216926;2216928;2216930;2216932;2216934;2216936;2216938;2216940;7184050 D11S1318;ECD00037;ECD00213;ECD00459;ECD00621;ECD01468;ECD01469;ECD02702;ECD03148;ECD03237;ECD03686;ECD04079;ECD04583;ECD06387;ECD06464;ECD06774;ECD07416;ECD11186;ECD11609;ECD16308;REN117589;REN117590;REN117596;REN117597;REN117598;REN117599;REN117600;REN117601;REN117602;REN117603;REN117604;REN117605;REN117606;REN117607;REN117608;REN117609;REN117610;REN117611;REN117612;REN117613;REN117614;REN117615;REN117616;REN117617;REN117618;REN117619;REN117620;REN117621;REN117622;REN117623;REN117624;REN117625;REN117626;REN117627;REN117628;REN117629;REN117630;REN117631;REN117632;REN117633;REN117634;REN117635;REN117636;REN117637;REN117638;REN117639;REN117640;REN117641;REN117642;REN117643;REN117644;REN117645;REN117646;REN117647;REN117648;REN117649;REN117650;REN117651;REN117652;REN117653;REN117654;REN117655;REN117656;REN117657;REN117658;RH104230;RH124990;RH45214;RH79705;RH93381;stSG548808;stSG548809;stSG548810;stSG548811;stSG548812;stSG548813;stSG548814;stSG548815;stSG548816;stSG548817;stSG548818;stSG548819 ART1;FLJ17158;FLJ97586;MGC22455;PHEMX;PHMX;TSSC6 OTTHUMP00000011324;OTTHUMP00000011326;OTTHUMP00000011327;OTTHUMP00000069770;OTTHUMP00000198686;OTTHUMP00000199810;pan-hematopoietic expression protein;tetraspanin-32;tspan-32;tumor-suppressing STF cDNA 6;tumor-suppressing subchromosomal transferable fragment cDNA 6;tumor-suppressing subtransferable candidate 6 APPROVED protein-coding ENSG00000064201 HGNC:13410 04834 603853 REVIEWED 1342494 TSPAN14 tetraspanin 14 ENCODES a protein that exhibits enzyme binding; INVOLVED IN establishment of protein localization to plasma membrane; positive regulation of Notch signaling pathway; protein maturation; ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; INTERACTS WITH elemental selenium; ethyl methanesulfonate; selenium atom 10 10 10 q23.1 76204371 76272722 + 82214038 82282394 + 80454282 80522638 + 737633;1580863;6480464;8554872 12477932 11230166;14702039;15489334;16303743;19322201;19473719;21139048;21890473;21906983;22645275;23128233;24250222 81619 A6NEP9;H7BXY6;Q8N2P5;Q8NG11 ABBA01003796;ABBA01003797;ABBA01003798;ABBA01003799;ABBA01003800;AC021028;AF311903;AK025157;AK026621;AK055330;AK074558;AK295321;AL136638;AMYH02023421;AMYH02023422;AMYH02023423;BC002920;BC093016;BI918996;CH471142;DC300676;KF455265;NM_001128309;NM_030927;XM_005270191;XM_005270192;XM_006717990;XM_006717991;XM_006717992 AAH02920;AAH93016;AAM94899;BAC11059;BAG58298;CAB66573;EAW80384;EAW80385;EAW80386;EAW80387;EAW80388;EAW80389;NP_001121781;NP_112189;Q8NG11;XP_005270248;XP_005270249;XP_006718053;XP_006718054;XP_006718055 Hs.718943 1652125;1670098;1720825;2143122;5014051;5022200;5022651;5037552;5093950 A009Z22;D10S1375E;D11S2921;D8S2278;D8S2279;G33018;G59388;L18426;WI-20336 DC-TM4F2;MGC11352;TM4SF14 OTTHUMP00000019979;OTTHUMP00000019980;OTTHUMP00000019981;OTTHUMP00000019983;OTTHUMP00000019984;OTTHUMP00000019985;OTTHUMP00000019986;tetraspanin similar to TM4SF9;tetraspanin-14;transmembrane 4 superfamily member 14;tspan-14 protein-coding ENSG00000108219 HGNC:23303 18196 VALIDATED 2923113 TSPY20P testis specific protein, Y-linked 20, pseudogene Y Y Y p11.2 3210970 3214341 + 9872627 9875998 + 10035018 10038389 + 100130848 ABBA01031156;AC006987;NG_022960 APPROVED pseudo HGNC:38093 INFERRED 3254931 TSPY21P testis specific protein, Y-linked 21, pseudogene Y Y Y q11.223 8932923 8941169 + 24540721 24548967 - 22394574 22402820 - 100287055 AC007320;NG_022976 APPROVED pseudo HGNC:38101 INFERRED 3277422 TSPY22P testis specific protein, Y-linked 22, pseudogene Y Y Y q11.223 9027850 9031315 + 24450575 24454040 - 22304428 22307893 - 100286996 ABBA01005809;AC007320;NG_022955 APPROVED pseudo HGNC:38522 INFERRED 3277423 TSPY23P testis specific protein, Y-linked 23, pseudogene Y Y q11.223 24329997 24332168 + 22183850 22186021 + 9847074 100286964 ABBA01005817;AC023342;NG_029413 1790141;2188983;5116474 G66018;sY1196;sY3000 APPROVED pseudo HGNC:38594 INFERRED 1348859 TSPY2 testis specific protein, Y-linked 2 INVOLVED IN cell differentiation (inferred); gonadal mesoderm development (inferred); nucleosome assembly (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) Y Y p11.2 6114264 6117055 + 6246223 6249018 + 6480464 10773691;12477932;21832049;21906983 64591 A6NGT6;A6NKD2 AC006335;AF106331;AK307425;AK308271;NM_022573;XM_005262569 A6NKD2;AAD47421;AAI48426;NP_072095;XP_005262626 Hs.556121;Hs.646249 5113687 RH38674 MGC103998;TSPYQ1 OTTHUMP00000038552;OTTHUMP00000038553;testis-specific Y-encoded protein 2;testis-specific Y-encoded protein Q1 protein-coding ENSG00000168757;ENSG00000279308 HGNC:23924 18234 PROVISIONAL 6481116 TSPY24P testis specific protein, Y-linked 24, pseudogene Y Y 8148239 8150250 + 8280198 8282209 + 100874287 AC051663;NG_032212 pseudo HGNC:38725 INFERRED 1603270 TSPY26P testis specific protein, Y-linked 26, pseudogene INVOLVED IN nucleosome assembly (inferred); FOUND IN nucleus (inferred); INTERACTS WITH paracetamol; 17beta-estradiol (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 20 20 20 q11.21 27533301 27534515 - 30776949 30778163 - 32189146 32190360 - 6480464 11780052;12477932;15489334 128854 Q9H489 ABBA01019280;AL121897;AMYH02036920;BC101556;BC101558;CH471077;NR_002781 EAW76388;Q9H489 Hs.647447 2173811;2218848;5492975 RH25411;TSPYL3__5151;UniSTS:483523 MGC126605;MGC126607;TSPYL3;bA392M18.1 APPROVED pseudo ENSG00000235217 HGNC:16256 18235 PROVISIONAL 6481122 TSPY25P testis specific protein, Y-linked 25, pseudogene Y Y 9461792 9463961 + 9624183 9626352 + 100874288 ABBA01031140;AC025819;NG_032213 pseudo HGNC:38726 INFERRED 1349041 TSPY5P testis specific protein, Y-linked 5, pseudogene Y Y Y p11.2 3242346 3245148 - 9904002 9906805 - 10066393 10069196 - 12815422;9847074 379027 ABBA01031162;AC006987;NG_003093 5116402 sY2950 TSPYP5 APPROVED pseudo HGNC:23907 INFERRED 2303328 TSPY3 testis specific protein, Y-linked 3 INVOLVED IN cell differentiation (inferred); cell proliferation (inferred); gonadal mesoderm development (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) Y Y p11.2 9236030 9238827 + 9398421 9401222 + 6480464 12477932;21906983 728137 F2Z2I4;P0CV98;Q01534 AC006156;AC006158;BC075016;BC121114;NM_001077697;XM_005272742 AAH75016;AAI21115;NP_001071165;P0CV98;XP_005272799 Hs.556121;Hs.730364 5113687 RH38674 CT78 OTTHUMP00000038907;OTTHUMP00000038908;testis-specific Y-encoded protein 3 protein-coding ENSG00000228927;ENSG00000280203 HGNC:33876 VALIDATED 2292189 TSPY6P testis specific protein, Y-linked 6, pseudogene INVOLVED IN nucleosome assembly (inferred); FOUND IN nucleus (inferred) Y Y p11.2 9345159 9347972 + 9507550 9510363 + 653174 R4GMP3;R4GNE9 AC006156;NG_009702 TSPYP6 APPROVED pseudo HGNC:34039 INFERRED 2802038 TSPY16P testis specific protein, Y-linked 16, pseudogene Y Y Y p11.2 2813265 2813777 - 9477858 9478370 - 9640249 9640761 - 727969 ABBA01031140;AC025819;CH471163;NG_023198 EAW59130 2187955 G66122 hypothetical protein LOC727969 APPROVED pseudo HGNC:37712 VALIDATED 2292187 TSPY7P testis specific protein, Y-linked 7, pseudogene Y Y Y p11.2 2547 2667 + 9215685 9218480 + 9378076 9380871 + 653288 AC006158;NG_009742 TSPYP7 APPROVED pseudo HGNC:34040 INFERRED 3497487 TSPY4 testis specific protein, Y-linked 4 INVOLVED IN cell differentiation (inferred); gonadal mesoderm development (inferred); nucleosome assembly (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) Y Y p11.2 9175098 9177888 + 9337489 9340283 + 6480464 12477932;14702039;16344560;21906983 728395 A6NEC3;P0CV99;P0CW01 AA608988;AC006158;AK093413;BX281192;DB035368;DB476671;NM_001164471;XM_005272743 BAC04156;NP_001157943;P0CV99;XP_005272800 Hs.556121;Hs.646249;Hs.647493;Hs.730364 5113687;5125997 RH38674;sY1256 FLJ36094;TSPY10;TSPY8 OTTHUMP00000038903;OTTHUMP00000038904;testis specific protein, Y-linked 1-like;testis-specific Y-encoded protein 4 protein-coding ENSG00000233803;ENSG00000279760 HGNC:37287 VALIDATED 3539644 TSPY9P testis specific protein, Y-linked 9, pseudogene Y Y p11.2 9324876 9326597 + 9487267 9488988 + 728132 AC006156;NG_021936 TSPY9 APPROVED pseudo HGNC:37472 INFERRED 3476546 TSPY8 testis specific protein, Y-linked 8 INVOLVED IN cell differentiation (inferred); gonadal mesoderm development (inferred); nucleosome assembly (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); choline (ortholog); cyclosporin A (ortholog) Y Y p11.2 9195442 9198203 + 9357833 9360598 + 6480464 12815422;21906983 728403 A6NDJ3;A6NGL4;P0CW00 AC006158;NM_001243721;XM_005272744 NP_001230650;P0CW00;XP_005272801 Hs.740264 5113687 RH38674 OTTHUMP00000038905;OTTHUMP00000038906;testis-specific Y-encoded protein 8 protein-coding ENSG00000229549;ENSG00000278940 HGNC:37471 INFERRED 1348944 TSPYL1 TSPY-like 1 The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009] 6 6 6 q22.1 117339059 117344311 - 116596022 116601280 - 116274859 116280117 - 1599672;1580863;6480464;7240710;8699517;8554872 15273283 11230166;11256614;12429849;12477932;14702039;15489334;16169070;16418600;16712791;16952470;18029348;19322201;19463995;19596235;21139048;21832049;21890473;21906983;21963094;22053931;22137496;23000965;23382074;23667531;24255178;24412650;9730615 7259 B4DN10;Q9H0U9 ABBA01026046;AF042181;AI861791;AJ420580;AK026849;AK096882;AL050331;AL136629;AMYH02014350;AMYH02014351;BC048969;BC068554;CB126996;CH471051;CR533535;NG_016217;NM_003309 AAC62384;AAH48969;CAB66564;CAG38566;EAW48232;NP_003300;Q9H0U9 Hs.458358;Hs.744978 1656914;1658271;2151671;5037552 1890;D8S2279;RH46654;WI-11947 TSPYL OTTHUMP00000017052;TSPY-like protein 1;testis-specific Y-encoded-like protein 1;testis-specific-like protein, Y encoded APPROVED protein-coding HGNC:12382 604714;608800 REVIEWED 1315389 TSPYL4 TSPY-like 4 INVOLVED IN nucleosome assembly (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; cadmium atom; cyclosporin A 6 6 6 q22.1 117314164 117318298 - 116571127 116575261 - 116249964 116254098 - 6480464 12421765;12477932;14574404;14702039;15489334;16189514;21139048;23000965;9872452 23270 Q69YV8;Q9UJ04 AB018264;ABBA01026047;AJ420569;AK091559;AK302542;AL050331;AL134793;AL137639;AMYH02014350;BC009116;BC040453;CH471051;NM_021648 AAH09116;BAA34441;BAG63814;CAH10705;EAW48235;NP_067680;Q9UJ04 Hs.284141 1670327;1674673;1846600;2138057 A002U47;D6S1182E;D6S1212E;WI-13824 KIAA0721;dJ486I3.2 OTTHUMP00000017057;TSPY-like protein 4;testis-specific Y-encoded-like protein 4 protein-coding ENSG00000187189 HGNC:21559 18236 VALIDATED 1322624 TSPYL5 TSPY-like 5 INVOLVED IN cellular response to gamma radiation; positive regulation of cell proliferation; positive regulation of protein kinase B signaling; FOUND IN nucleus (inferred); INTERACTS WITH afimoxifene; aflatoxin B1; all-trans-retinoic acid 8 8 8 q22.1 94471979 94476441 - 98285714 98290192 - 97273486 97277948 - 737633;6480464 12477932 11214970;14702039;17207965;18059362;20079711;21139048;21170034;21906983;23000965;23518928;24250222;24816145 85453 Q86VY4 AB051537;ABBA01037500;AK091445;AK092272;AL080059;AMYH02018465;AP003113;AP003115;BC045630;CH471060;KC877282;NM_033512 AAH45630;ADQ32976;BAB21841;BAG52362;EAW91759;NP_277047;Q86VY4 Hs.173094 1667141;1669874;1672222;2113892 AB050517;RH12019;SHGC-32191;STS-AA033739 KIAA1750 OTTHUMP00000227724;TSPY-like protein 5;testis-specific Y-encoded-like protein 5 protein-coding ENSG00000180543 HGNC:29367 15576 614721 VALIDATED 1346364 TSPYL2 TSPY-like 2 This gene encodes a member of the testis-specific protein Y-encoded, TSPY-like/SET/nucleosome assembly protein-1 superfamily. The encoded protein is localized to the nucleolus where it functions in chromatin remodeling and as an inhibitor of cell-cycle progression. This protein may play a role in the suppression of tumor growth. [provided by RefSeq, Sep 2009] X X X p11.2 56941043 56947032 + 53111542 53117728 + 53082360 53088546 + 1580863;6480464 11076863;11149944;11230166;11256614;11318608;11395479;12477932;15066269;15489336;15823505;16079131;16344560;16381901;16713569;17069459;17317670;18029348;18381359;18591933;18649364;20186459;21204751;21829568;21890473;21906983;22038794;23000965;23246961;23929772;24250222 64061 J3KS33;J3KST2;Q9H2G4 AB015345;AB209182;ABBA01056365;ABBA01056366;AF254794;AF273046;AI208075;AK131220;AK292462;AL713652;AMYH02039459;AY040871;BC001566;BC024270;BX322635;CH471154;DA076199;NG_013267;NM_022117;XM_006724592 AAG34906;AAG53596;AAH01566;AAH24270;AAK72407;BAA34802;BAD92419;BAF85151;BAG54754;CAD28461;CAL37594;EAW93143;EAW93144;NP_071400;Q9H2G4;XP_006724655 Hs.136164;Hs.592916 1680581;1702884;1739689;1796726 DXS1008E;DXS7563;RH99258;SE20-4_1202 CDA1;CTCL;DENTT;HRIHFB2216;NP79;SE20-4;SE204;TSPX CASK-interacting nucleosome assembly protein;CINAP;CTCL tumor antigen se20-4;CTCL-associated antigen se20-4;OTTHUMP00000023335;TSPY-like protein 2;cell division autoantigen 1;cutaneous T-cell lymphoma-associated antigen se20-4;cutaneous T-cell lymphoma-associated tumor antigen se20-4;differentially expressed nucleolar TGF-beta1 target;differentially-expressed nucleolar TGF-beta1 target protein;nuclear protein of 79 kDa;testis-specific Y-encoded-like protein 2;testis-specific protein Y encoded-like 2 APPROVED protein-coding ENSG00000184205 HGNC:24358 06713 300564 REVIEWED 1603148 TSPYL6 TSPY-like 6 INVOLVED IN nucleosome assembly (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; benzo[a]pyrene 2 2 2 p16.2 54321192 54324286 - 54480315 54483409 - 54253178 54256272 - 6480464 12477932;16344560 388951 Q8N831 ABBA01075249;AC073879;AK097417;AL117628;AMYH02003842;BC068576;CH471053;DB073493;HC007362;HC044761;NM_001003937 AAH68576;BAC05043;CBH19486;CBH30710;EAX00158;NP_001003937;Q8N831 Hs.620508 1681482 RH92612 DKFZp434B125 OTTHUMP00000214323;TSPY-like protein 6;testis-specific Y-encoded-like protein 6 protein-coding ENSG00000178021 HGNC:14521 11652 VALIDATED 1352414 TSR3 TSR3, 20S rRNA accumulation, homolog (S. cerevisiae) INVOLVED IN rRNA processing (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; copper atom; copper(0) 16 16 16 p13.3 1613356 1615988 - 1399241 1401873 - 1349240 1351872 - 6480464;8554872 11157797;12477932;15489334;15616553;21890473;21906983;21963094;23000965;24250222;24816145 115939 H3BQD4;Q9UJK0 ABBA01030310;AE006467;AL031709;AMYH02031227;BC011785;BC013943;BC016699;BC017325;CH471112;NG_016985;NM_001001410 AAH13943;AAH16699;AAH17325;AAK61276;EAW85669;NP_001001410;Q9UJK0 Hs.134846 1656992 RH70716 C16orf42;MGC24381 OTTHUMP00000045502;hypothetical protein LOC115939;probable ribosome biogenesis protein C16orf42;ribosome biogenesis protein TSR3 homolog APPROVED protein-coding ENSG00000007520 HGNC:14175 14496 VALIDATED 1603994 TSR1 TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN ribosome assembly (ortholog); FOUND IN nucleolus (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; 4-phenylbutyric acid; 5-fluorouracil 17 17 17 p13.3 2242076 2256780 - 2225972 2240678 - 2322678 2337384 - 6480464 10718198;12477932;14702039;17353931;19471022;19584346;20020773;20360068;20805244;21139048;21145461;21252943;21282530;21906983;21907836;21963094;22268729;22586326;22863883;22939629;22990118;23000965;24332808;24778252;24816145;7791754 55720 I3L1Q5;I3L4E8;I3L4T0;Q2NL82 AB037822;ABBA01054701;AK001396;AK026565;AL450226;AMYH02032772;BC019090;BC110851;BC126110;CH471108;NM_018128 AAH19090;AAI10852;AAI26111;BAA91667;BAA92639;EAW90548;EAW90549;EAW90550;EAW90551;EAW90552;NP_060598;Q2NL82 Hs.388170 1652759;1734426;1746077;2122304;2140500;2165600;2184645;5014051;5015322;5015619;5015861;5020948;5022200;5022651;5037552;5093600;5116670;7185938 A009S27;D10S16;D10S512;D11S2921;D11S3114;D17S1400E;D17S1682;D8S2278;D8S2279;G32814;G35510;G54858;HSC2GF012;IB3555;L18426;RH47913;sY3122 FLJ10534;KIAA1401;MGC131829 pre-rRNA-processing protein TSR1 homolog protein-coding ENSG00000167721 HGNC:25542 07681 611214 VALIDATED 1602842 TSR2 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) INVOLVED IN rRNA processing (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; lead(0); lead(2+) X X X p11.22 58299414 58304291 + 54466853 54471730 + 54440420 54445297 + 6480464 12477932;16189514;17207965;19060904;19471022;19615732;21790011;21890473;23000965;9417904 90121 Q969E8 ABBA01069630;ABBA01069631;AMYH02039489;BC007699;BC011825;CH471154;NM_058163;U92980;Z85987 AAH07699;AAH11825;ADQ33183;EAW93177;EAW93178;NP_477511;Q969E8 Hs.522662 1643612;1661803;1681668;2183592 G35013;RH75708;SGC30464;SHGC-24021 DT1P1A10;MGC20451;RP1-112K5.2;WGG1 OTTHUMP00000023373;WGG motif containing 1;pre-rRNA-processing protein TSR2 homolog protein-coding ENSG00000158526 HGNC:25455 06493 PROVISIONAL 6481133 TSSC1-IT1 TSSC1 intronic transcript 1 (non-protein coding) p25.3 100874301 AC073502;BX380553 ncrna HGNC:41392 1353960 TSSK1A testis-specific serine kinase 1A pseudogene INTERACTS WITH clofibrate (ortholog); simazine (ortholog) 22 22 22 q11.21 2964455 2965404 + 19112431 19113380 + 19124918 19125867 + 1580863;6480464 10591208;11264466;15044604;15489334;15733851;21326311;8776594 23752 ABBA01005425;AC004471;AMYH02038035;L77570;NG_004670;NG_021333 SPOGA1;STK22A;TSSK1;TSSK1b;TSSK7P serine/threonine kinase 22a (spermiogenesis associated) pseudo HGNC:11400 INFERRED 1348033 TSSC2 tumor suppressing subtransferable candidate 2 pseudogene 11 11 11 p15.4 3391793 3419987 + 3402191 3430378 + 3380961 3409148 + 14702039;15146197;16344560;9403053 650368;7261 ABBA01032064;AC123788;AK123648;AL528594;AMYH02024223;CN418596;DB226687;NR_024248 Hs.640450 APPROVED pseudo ENSG00000223756 HGNC:12384 608999 PROVISIONAL 1314080 TSSC1 tumor suppressing subtransferable candidate 1 This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008] 2 2 2 p25.3 3247171 3432956 - 3192741 3381653 - 3188970 3377882 - 6480464;8554872 12477932;15489334;15815621;16344560;17353931;21139048;21906983;21963094;22505724;22797925;23933319;24654937;8125298;9403053;9925925 7260 A8MUM1;C9J0U9;C9JVR6;D3YTH5;F8WB12;F8WDS8;F8WDX0;Q53HC9 ABBA01013721;ABBA01013722;AC019118;AC073502;AF019952;AK026522;AK126288;AK222652;AMYH02003189;AMYH02003190;AMYH02003191;AMYH02003192;BC002485;CH471053;DA349228;NM_003310;R15788;XM_006711893 AAC51911;AAH02485;AAY24193;AAY24338;ABM83619;ABM86862;BAD96372;EAX01070;EAX01071;NP_003301;Q53HC9;XP_006711956 Hs.502770 1645988;1698626;1725635;1847340;2109997;2155145;2182230 A002Q11;AFMB316YF9;D2S2891;G62029;RH102869;RH11737;TSSC1_8692 OTTHUMP00000115381;OTTHUMP00000199995;tumor-suppressing STF cDNA 1 protein;tumor-suppressing subchromosomal transferable fragment candidate gene 1 protein APPROVED protein-coding ENSG00000032389 HGNC:12383 10287 608998 VALIDATED 1316004 TSSC4 tumor suppressing subtransferable candidate 4 This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the pan-hematopoietic expression gene (PHEMX), escapes imprinting. This gene may play a role in malignancies and disease that involve this region. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] 11 11 11 p15.5 2458330 2459913 + 2421723 2425108 + 2400493 2403878 + 6480464 10072438;10915772;12477932;15302935;15489334;16169070;17081983;17207965;20360068;21044950;21832049;21900206;22939629;24250222;24816145 10078 A6NCC9;C9JDU0;C9JHT9;C9JJV1;E9PL88;E9PME3;Q9Y5U2 ABBA01032092;AC124057;AF125568;AI627557;AMYH02024191;BC006091;BC050616;BI084274;BI768923;BX384913;CH471158;NM_001297658;NM_001297659;NM_001297660;NM_001297661;NM_005706;XM_005252722;XM_005252724;XM_006718118 AAD23579;AAH06091;AAH50616;ADQ32652;EAX02510;EAX02511;EAX02512;EAX02513;NP_001284587;NP_001284588;NP_001284589;NP_001284590;NP_005697;Q9Y5U2;XP_005252779;XP_005252781;XP_006718181 Hs.523424;Hs.732116 1697970 RH102514 OTTHUMP00000011533;OTTHUMP00000011534;OTTHUMP00000229010;tumor-suppressing STF cDNA 4 protein;tumor-suppressing subchromosomal transferable fragment candidate gene 4 protein APPROVED protein-coding ENSG00000184281 HGNC:12386 10357 603852 REVIEWED 1605025 TSSK1B testis-specific serine kinase 1B TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008] 5 5 5 q22.2 108716065 108718542 - 112768251 112770728 - 113432554 113435031 - 6480464;8554872 12477932;12556502;14702039;15044604;15733851;15761153;16344560;19530700;22939624;23258646 83942 A0ZT98;Q9BXA7 AB284522;ABBA01069045;AC010431;AF348076;AK122904;AK313332;AMYH02011983;AY028964;BC022515;CH471086;DB025324;DB527624;HC007364;HC044763;NG_012265;NM_032028 AAH22515;AAK27734;AAK29413;ABM84574;ABM86529;BAF41973;BAG36136;BAG53792;CBH19487;CBH30711;EAW48983;NP_114417;Q9BXA7 Hs.519507 FKSG81;SPOGA4;STK22D;TSK-1;TSK1;TSSK-1;TSSK1 OTTHUMP00000159055;serine/threonine kinase 22D (spermiogenesis associated);serine/threonine kinase FKSG81;serine/threonine-protein kinase 22A;spermiogenesis associated 4;testis-specific kinase 1;testis-specific serine kinase 1;testis-specific serine/threonine-protein kinase 1 APPROVED protein-coding ENSG00000212122 HGNC:14968 11610 610709 VALIDATED 1606567 TSSK2 testis-specific serine kinase 2 TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008] 22 22 22 q11.21 2970345 2972160 + 19118321 19120136 + 19130808 19132623 + 6480464;8554872 10591208;11591653;12477932;15044604;15461802;15489334;18533145;19926886;21832049;21988832;22939624;22939629;23047923;23258646;8776594;9412477 23617 A0ZT99;Q96PF2 AB284523;ABBA01005424;AC004471;AF362953;AMYH02038035;BC037781;CH471176;CR456587;HC044659;L77564;NG_008320;NM_053006 AAH37781;AAK98531;BAF41974;CAG30473;CBH30659;EAX03058;NP_443732;Q96PF2 Hs.694070 2109895;2112184 D22S1572;STK22B_9383 DGS-G;FLJ38613;SPOGA2;STK22B;TSK-2;TSK2;TSSK-2 OTTHUMP00000196362;diGeorge syndrome protein G;serine/threonine kinase 22B (spermiogenesis associated);serine/threonine-protein kinase 22B;spermiogenesis associated 2;testis specific serine threonine kinase 2;testis-specific kinase 2;testis-specific serine/threonine-protein kinase 2 APPROVED protein-coding ENSG00000206203 HGNC:11401 10255 610710 VALIDATED 1347200 TSSK3 testis-specific serine kinase 3 This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm function. [provided by RefSeq, Jul 2008] 1 1 1 p35-p34 31098338 31100402 + 32818365 32830098 + 32362261 32364325 + 1580863 11597141;12477932;15489334;15761153;16336268;21988832;22939624 81629 I3L1X4;Q96PN8 ABBA01023428;AF296450;AL109945;AMYH02000710;AY048701;BC035354;BF509953;CH471059;NM_052841 AAH35354;AAK97141;AAL02128;ABM82252;ABM85436;EAX07531;EAX07532;NP_443073;Q96PN8 Hs.512763 1697428;1743375;2219726 GDB:315593;RH102214;STK22C__5341 SPOGA3;STK22C;STK22D;TSK-3;TSK3;TSSK-3 OTTHUMP00000008862;serine/threonine kinase 22c (spermiogenesis associated);serine/threonine-protein kinase 22C;spermiogenesis associated 3;testis-specific kinase 3;testis-specific serine/threonine kinase 22C;testis-specific serine/threonine-protein kinase 3 APPROVED protein-coding ENSG00000162526 HGNC:15473 09635 607660 REVIEWED 1345321 TSSK4 testis-specific serine kinase 4 This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 14 14 14 q12 4539396 4541924 + 24674753 24677568 + 24205547 24208362 + 6480464 12477932;14702039;15489334;15761153;15964553;18390560;18452650;20378615;21988832 283629 H0YJ36;H0YJB1;H7C3J1;Q6SA08 ABBA01061337;AF542390;AK131042;AL136295;AMYH02028880;AY461663;BC029918;BC111088;CH471078;NM_001184739;NM_174944;XM_005267545 AAI11089;AAN62841;AAS17971;BAC85482;BAI46175;EAW66069;EAW66070;EAW66071;NP_001171668;NP_777604;Q6SA08;XP_005267602 Hs.314432 1684542;1754407;2128778;2156618 G35868;RH98373;SHGC-132422;SHGC-31269 C14orf20;MGC133264;STK22E;TSK-4;TSK4;TSSK5 OTTHUMP00000028170;OTTHUMP00000164704;OTTHUMP00000244227;OTTHUMP00000244231;chromosome 14 open reading frame 20;serine/threonine kinase 22E;serine/threonine-protein kinase 22E;testis-specific serine/threonine-protein kinase 4 APPROVED protein-coding ENSG00000139908 HGNC:19825 12642 610711 REVIEWED 1346117 TSTA1 tissue specific transplantation antigen 1 94020 HGNC:16295 1605019 TSSK6 testis-specific serine kinase 6 This intronless gene encodes a member of the CAMK (calcium/calmodulin-dependent) serine/threonine protein kinase family. The encoded kinase has a broad expression pattern but is described as testis-specific due to effects on fertility. Male mice which lack the gene encoding a highly similar protein are sterile and have morphologically abnormal sperm. [provided by RefSeq, Jan 2012] 19 19 19 p13.11 19529087 19530528 - 19625028 19626469 - 19514219 19515660 - 6480464 12477932;14702039;15044604;15489334;15870294;20037600;21832049;22939624;23974872 83983 Q9BXA6;R4GMZ2 AA608857;ABBA01051334;AC011448;AF329483;AF348077;AK058166;AK172841;AK313767;AMYH02035759;BC014611;CH471106;NG_013380;NG_033078;NM_032037 AAH14611;AAK29414;AAK48827;ABM82529;ABM85723;BAB71697;BAD18805;BAG36505;EAW84824;EAW84825;NP_114426;Q9BXA6 Hs.532711;Hs.666780 5095018 TSSK6 CT72;FKSG82;FLJ24002;SSTK;TSK-6;TSSK-6;TSSK4 cancer/testis antigen 72;serine/threonine protein kinase SSTK;serine/threonine-protein kinase SSTK;small serine/threonine kinase;testis-specific kinase 6;testis-specific serine/threonine-protein kinase 6 APPROVED protein-coding ENSG00000178093 HGNC:30410 15441 610712 REVIEWED 1354075 TSTA2 tissue specific transplantation antigen 2 94019 HGNC:16296 3476308 TSSK5P2 testis-specific serine kinase 5 pseudogene 2 8 8 q24.3 141539036 141541836 - 145440975 145443775 - 100131992 AC110280;NG_016786 2151414 RH11627 pseudo HGNC:30274 INFERRED 3340339 TSSK5P testis-specific serine kinase 5, pseudogene 8 8 8 q24.3 141539036 141541836 - 145195767 145198567 - 144140864 144143664 - 20210993 648630 ABBA01005223;AC104592;AC110280;NG_017084 TSSK5P1;TSSK5P2;TSSKps1 APPROVED pseudo HGNC:31931 INFERRED 6769372 TSTD3 thiosulfate sulfurtransferase (rhodanese)-like domain containing 3 6 6 6 q16.2 100618093 100623927 + 99968870 99981061 + 99520994 99533185 + 100130890 H0UI37 ABBA01014480;AL137784;AMYH02014185;BX647075;CH471051;DN996863;HG499469;NM_001195131;XM_006715296 EAW48463;EAW48464;H0UI37;NP_001182060;XP_006715359 Hs.634506 5021872;5022578;5022588;5100462;5109281 D17S629;D1S1423;D1S1425;D5S1597E;sY3084 RP1-199J3.3 rhodanese domain-containing protein 3;thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 3;uncharacterized protein LOC100130890 protein-coding HGNC:40910 VALIDATED 1322057 TSTD2 thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH cyclosporin A; paracetamol; aflatoxin B1 (ortholog) 9 9 9 q22.33 70876618 70910219 - 100362362 100395962 - 97600080 97633680 - 737633;6480464;8554872 12477932 14702039;15146197;15164053;15489334;15498874;16344560;20350937;21906983;21963094 158427 Q5T7W7;Q5T7X0 ABBA01042929;ABBA01042930;AF258575;AK056453;AK056752;AK094043;AK122809;AK128615;AK291199;AL162385;AMYH02021310;BC022958;BC035604;BU625565;BX538308;BX648493;CH471105;CN298691;DA735730;NM_139246;XM_005251740;XM_006716979 AAG23778;AAH22958;AAH35604;BAB71188;BAB71271;BAC87530;BAF83888;BAG53739;EAW58848;EAW58849;EAW58850;EAW58851;NP_640339;Q5T7W7;XP_005251797;XP_006717042 Hs.723236 1687906;1775883;1850950;2107683;2153885 D9S1702;RH78518;RH93155;STS-M77016;TMOD1__5100 C9orf97;FLJ36724;PP4189;RP11-244N9.5 OTTHUMP00000021746;rhodanese domain-containing protein 2;thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2 APPROVED protein-coding ENSG00000136925 HGNC:30087 16679 VALIDATED 1350960 TTBK1 tau tubulin kinase 1 ENCODES a protein that exhibits ATP binding (inferred); protein kinase activity (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN substantia nigra development; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH bisphenol A (ortholog); paracetamol (ortholog); potassium dichromate (ortholog) 6 6 6 p21.1 44763431 44808208 + 43211222 43255997 + 43243484 43288259 + 6480464;8554872 11347906;12477932;14574404;14702039;15489334;17353931;18029348;19118186;20096481;21219968;23088643;7556643 84630 Q5TCY1;X6R456 AB058758;AB218664;ABBA01050690;ABBA01050691;ABBA01050692;AK055425;AK131217;AL133375;AL833256;AMYH02013643;BC036764;CH471081;NM_032538;XM_006715229 AAH36764;AAI56453;AAI72528;BAB47484;BAD18405;BAE78660;EAX04167;EAX04168;EAX04169;NP_115927;Q5TCY1;XP_006715292 Hs.485436 1339242;1735624;1788806 D6S1232E;D6S282;RH140426 BDTK;KIAA1855;RP3-330M21.4 OTTHUMP00000016425;OTTHUMP00000180668;brain-derived tau kinase;tau-tubulin kinase 1 protein-coding ENSG00000146216 HGNC:19140 11653 VALIDATED 2859136 TSTD1 thiosulfate sulfurtransferase (rhodanese)-like domain containing 1 FOUND IN cytoplasm; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; methylmercury chloride 1 1 1 q23.3 134074692 134076045 - 161007418 161008887 - 161037631 161038984 - 6480464 10395639;11087121;11181995;11752456;12107413;12477932;12665801;12817473;15489334;16337094;16710414;19913121;20628086;21845542;24981631 100131187 Q8NFU3;R4GNF9 ABBA01016602;AF439442;AL591806;AMYH02002030;AV688621;BC001699;BC038219;CD675389;CH471121;NG_011612;NM_001113205;NM_001113206;NM_001113207 AAH01699;AAM69839;AAM69840;EAW52679;NP_001106676;NP_001106677;NP_001106678;Q8NFU3 Hs.720030 1685243;2152999 RH70346;RH94217 KAT OTTHUMP00000029699;OTTHUMP00000029700;OTTHUMP00000029701;OTTHUMP00000029702;putative thiosulfate sulfurtransferase KAT;thiosulfate sulfurtransferase KAT, putative;thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 1 protein-coding ENSG00000215845 HGNC:35410 616041 VALIDATED 1320938 TTC13 tetratricopeptide repeat domain 13 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; copper(2+) sulfate; valproic acid 1 1 1 q42.2 204307932 204380251 - 231041987 231114618 - 230906241 230978872 - 1580863;6480464;8554872 12477932;14702039;15489334;16303743;16344560;22268729;24250222 79573 E5RG15;E5RHB3;E5RJP6;H0YB10;H0YBV3;Q8NBP0 ABBA01033031;ABBA01033032;AK026237;AK074365;AK075386;AK075561;AK309725;AL832286;AL834453;AL844165;AMYH02002885;AW613930;BC042683;BC047662;BC110880;CH471098;CS051183;DA468037;DA741498;DA752300;EL946523;FO393421;NM_001122835;NM_024525;XM_005273260;XM_005273261;XM_005273262;XM_005273264;XM_006711814;XM_006711815 AAH42683;BAB15407;BAC11586;BAC11700;CAD39113;CAH10599;CAI72087;EAW69929;EAW69930;EAW69931;EAW69932;EAW69933;NP_001116307;NP_078801;Q8NBP0;XP_005273317;XP_005273318;XP_005273319;XP_005273321;XP_006711877;XP_006711878 Hs.424788 1666517;1696660;1712757;2161016 RH120092;SHGC-58829;SHGC-82968;STS-T79190 FLJ22584 OTTHUMP00000035913;OTTHUMP00000035914;TPR repeat protein 13;tetratricopeptide repeat protein 13 protein-coding ENSG00000143643 HGNC:26204 15578 VALIDATED 1345432 TTC1 tetratricopeptide repeat domain 1 This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 5 5 5 q33.3 155467734 155524106 + 159436156 159492550 + 160009100 160065545 + 1580863;6480464;8554872 10567422;12477932;12748287;14503850;14985359;15342556;15489334;15761153;16189514;18654987;20936779;21139048;21486497;21525035;21906983;21987572;21988832;22505724;22711498;22779921;22863883;22939629;23000965;23067341;24255178;24722188;24816145;25036637;8125298;8836031;9383998 7265 H0YB37;Q99614 ABBA01044232;ABBA01044233;ABBA01044234;ABBA01044235;AC008706;AC068657;AK128840;AK222641;AK222984;AK315262;AMYH02012591;AMYH02012592;AMYH02012593;AMYH02012594;BC000942;BP245572;BQ017702;CH471062;DN989835;NM_001282500;NM_003314;U46570 AAB36871;AAH00942;ABM81919;ABM85097;BAD96361;BAD96704;BAG37679;EAW61570;EAW61571;NP_001269429;NP_003305;Q99614 Hs.519718 1772336;2111910;2156504;5015404;5016478 A002Q13;D5S2519;GDB:434012;L17705;RH45601 FLJ46404;TPR1 OTTHUMP00000160843;OTTHUMP00000224232;TPR repeat protein 1;tetratricopeptide repeat protein 1 protein-coding ENSG00000113312 HGNC:12391 11881 601963 REVIEWED 1347811 TTBK2 tau tubulin kinase 2 This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009] 15 15 15 q15.2 19804468 19983827 - 43030928 43213037 - 42743953 42920995 - 1580863;6480464;7240710;8554872;8699517 10048485;10417284;12434312;12477932;14702039;15148151;15489334;15717329;16196087;16751776;17353931;17620722;18037885;19533200;19768375;20301317;20301723;20360068;20379614;20667868;21145461;21906983;22020623;22814243;22863007;23141541;24250222;24982133;8889548 146057 H3BMY7;H3BQ25;H3BTY5;Q6IQ55;Q8IWY7 AB020654;ABBA01038358;ABBA01038359;ABBA01038360;ABBA01038361;ABBA01038362;ABBA01038363;ABBA01038364;ABBA01038365;AC068727;AC090510;AC090514;AF525400;AK074481;AK131372;AMYH02030291;AMYH02030292;AMYH02030293;AX262516;BC041876;BC071556;BX648356;CB242184;CH471125;DQ572375;DQ579742;DQ586356;DQ599476;NG_012664;NM_173500;XM_005254171;XM_005254173;XM_006720402;XM_006720403 AAH41876;AAH71556;AAO14996;BAA74870;BAD18523;CAD10237;EAW92581;EAW92582;EAW92583;NP_775771;Q6IQ55;XP_005254228;XP_005254230;XP_006720465;XP_006720466 Hs.646511;Hs.727864;Hs.733489 1340891;1341729;1684084;1708346;1736728;1736736;1736758;1736790;2111250;2178223 D15S1016;D15S146;D15S497;D15S749;D15S753;D15S765;D15S780;RH44835;RH93724;SHGC-81108 KIAA0847;SCA11;TTBK spinocerebellar ataxia 11;tau-tubulin kinase 2 APPROVED protein-coding HGNC:19141 10288 604432;611695 REVIEWED 1320720 TTC14 tetratricopeptide repeat domain 14 ENCODES a protein that exhibits RNA binding (inferred); ASSOCIATED WITH Fibrous Sheath Dysplasia (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; cyclosporin A 3 3 3 q26.33 178752041 178761041 + 180319918 180336120 + 180602130 180618347 + 737633;1580863;6480464 12477932 11853319;12975309;14702039;15489334;16189514;16344560;20379614;22365833;22505724;8889548 151613 C9J974;C9JBA2;C9JCY7;F8WDA3;F8WDH5;Q69YS0;Q86TA5;Q96N46 AB075860;ABBA01058515;AC068298;AI088990;AI742462;AI811067;AK055984;AL832052;AL832310;AL833086;AL833103;AMYH02008237;AY358762;BC027990;BU684626;BX474122;BX648669;CH471052;DA283647;NM_001042601;NM_001288582;NM_133462;XM_006713504;XM_006713505;XM_006713506;XR_241468;XR_427362 AAH27990;AAQ89122;ACE87800;ACT64543;BAB71064;BAB85566;CAD89930;CAH10404;EAW78376;EAW78377;EAW78378;NP_001036066;NP_001275511;NP_597719;Q96N46;XP_006713567;XP_006713568;XP_006713569 Hs.43213 1687135;2182210 RH94147;STS-N22566 DKFZp313M1015;DRDL5813;FLJ00166;KIAA1980;PRO19630 OTTHUMP00000212528;OTTHUMP00000212529;OTTHUMP00000212531;OTTHUMP00000212532;TPR repeat protein 14;tetratricopeptide repeat protein 14 protein-coding ENSG00000163728 HGNC:24697 15579 VALIDATED 1321657 TTC16 tetratricopeptide repeat domain 16 INTERACTS WITH diazinon; paraoxon; 17alpha-ethynylestradiol (ortholog) 9 9 9 q34.11 101129250 101144749 + 130478358 130493879 + 127716079 127731600 + 737633;1580863;6480464 12477932 14702039;15164053;15489334 158248 B4DYG4;Q8NEE8 ABBA01043840;ABBA01043841;ABBA01043842;AK057342;AK074105;AK128011;AK294862;AK302422;AK302737;AL162426;AMYH02021694;AMYH02021695;BC031281;BC032411;CH471090;NM_144965;XM_005251733;XM_005251734;XM_006716969;XM_006716970;XM_006716971;XM_006716972;XM_006716973 AAH31281;ADZ15699;BAB71437;BAB84931;BAC87231;BAG57966;BAG63726;BAG63954;EAW87687;EAW87688;EAW87689;NP_659402;Q8NEE8;XP_005251790;XP_005251791;XP_006717032;XP_006717033;XP_006717034;XP_006717035;XP_006717036 Hs.642748 5118576 D11S3430 FLJ32780;RP11-56D16.6 OTTHUMP00000022195;TPR repeat protein 16;tetratricopeptide repeat protein 16 protein-coding ENSG00000167094 HGNC:26536 15581 PROVISIONAL 1347109 TTC12 tetratricopeptide repeat domain 12 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 11 11 11 q23.2 110338185 110390045 + 113185251 113244345 + 113314529 113373297 + 1580863;6480464;8554872 12477932;12964006;14702039;15489334;16196087;16344560;17085484;17657212;17761687;18828801;20133381;21139048;21168125;23303482;8125298 54970 A8K8G6;A8MTE9;B0YJB4;C9J1D2;C9JPY5;C9JYU1;E9PIB6;E9PIS6;E9PJI9;E9PKU6;E9PP06;H0YDB4;H0YEF6;J3KR69;Q53G14;Q9H892 ABBA01039789;AK000542;AK023921;AK091887;AK125909;AK223117;AK292331;AMYH02025593;AP000880;AP002840;BC011546;BC019086;BC032355;CH471065;DB110945;EF445041;HG504175;NM_017868;XM_005271603;XM_005271604;XM_005271605;XM_005271606;XM_005271607;XM_006718866 AAH32355;ACA06092;ACA06093;BAA91242;BAB14725;BAD96837;BAF85020;EAW67210;EAW67211;EAW67212;EAW67213;EAW67214;NP_060338;Q9H892;XP_005271660;XP_005271661;XP_005271662;XP_005271663;XP_005271664;XP_006718929 Hs.288772 1664895;1687081;1726887;1736969;1752351;2166133 D11S1046;D11S2681;G62686;RH48107;RH92778;SHGC-106267 FLJ13859;FLJ20535;RP11-159N11.4;TPARM OTTHUMP00000183510;OTTHUMP00000183512;OTTHUMP00000233106;OTTHUMP00000236463;TPR repeat protein 12;tetratricopeptide repeat protein 12;tetratricopeptide repeat protein 12 variant 1;tetratricopeptide repeat protein 12 variant 2 protein-coding ENSG00000149292 HGNC:23700 15577 610732 VALIDATED 1313426 TTC17 tetratricopeptide repeat domain 17 INVOLVED IN actin filament polymerization; cilium organization; ASSOCIATED WITH Melanoma (inferred); FOUND IN actin cytoskeleton; cytoplasm; plasma membrane; INTERACTS WITH benzo[a]pyrene; copper atom; copper(0) 11 11 11 p11.2 43527449 43663453 + 43380435 43516483 + 43358885 43494933 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;15761153;16344560;20379614;21139048;21906983;22268729;24475127 55761 E9PN79;G3XAB3;H0Y6S0;Q49A97;Q96AE7 ABBA01060780;AC023085;AC087276;AF161431;AK001540;AK001752;AK023161;AK026217;AK074253;AK124380;AMYH02024674;AW070863;BC017238;BC033000;BC041893;BX640972;CH471064;DA106610;NM_018259;XM_005253016;XM_005253017;XM_006718263 AAF28991;AAH17238;AAH33000;AAH41893;BAA91747;BAA91883;BAB14438;CAE45987;EAW68092;EAW68093;EAW68094;EAW68095;EAW68096;NP_060729;Q96AE7;XP_005253073;XP_005253074;XP_006718326 Hs.191186 1646210;1646212;1658555;2119446;2121429;2126255;2132219;2150647;2164908 A006G11;D11S4720;G20781;RH45133;SGC31982;SGC44667;SHGC-33396;SHGC-44667;STS-AA010247 DKFZp686D20222;FLJ10890;FLJ13099;FLJ23673 OTTHUMP00000232806;OTTHUMP00000240277;TPR repeat protein 17;tetratricopeptide repeat protein 17 protein-coding ENSG00000052841 HGNC:25596 15582 VALIDATED 1353382 TTC19 tetratricopeptide repeat domain 19 This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012] 17 17 17 p12 15805789 15835101 + 15902694 15932723 + 15999380 16029409 + 6480464;7240710;8699517;8554872 12477932;14702039;15231747;15489334;16713569;16730941;20208530;20877624;21278747;21890473;21900206;21906983;23532514;24397319;24816145 54902 K7EJA1;K7EKH7;K7EKS0;K7ELX2;K7ERR1;Q6DKK2 ABBA01035665;AC002553;AC006251;AK000350;AK025958;AK055780;AK056878;AK094819;AK297783;AL832412;AMYH02033063;AMYH02033064;AW083291;BC003058;BC011698;BC073796;BC105128;BC112107;CA417932;CH471222;NG_029806;NM_001271420;NM_017775 AAH11698;AAH73796;AAI05129;AAI12108;BAA91103;BAB15296;BAG51574;BAG51820;BAG52935;BAG60127;EAX04490;EAX04491;NP_001258349;NP_060245;Q6DKK2 Hs.462316 1678139;1678229;1736630;2123133;2178495;5037552 D17S1473E;D8S2279;RH65831;RH99043;STS-W67727;WI-21018 2010204O13Rik;FLJ20343;MC3DN2;MGC138312;MGC19520 OTTHUMP00000065570;OTTHUMP00000065571;OTTHUMP00000065572;TPR repeat protein 19;tetratricopeptide repeat protein 19;tetratricopeptide repeat protein 19, mitochondrial APPROVED protein-coding ENSG00000011295 HGNC:26006 07899 124000;613814;615157 REVIEWED 1315979 TSTA3 tissue specific transplantation antigen P35B Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 141005027 141009971 - 144694788 144700358 - 143612618 143618155 - 1580863;6480464;6907045;8554872 11698403;12477932;1348494;14702039;15489334;16712791;17207965;18781797;19027726;19056867;19953087;21139048;21906983;21963094;21988832;22505724;22528125;22863883;22939629;22944692;23000965;23314748;23585552;23774504;23824909;7803801;8910301;9525924 7264 E9PKL9;E9PLH9;E9PP14;E9PP60;H0YCP7;H0YE90;Q13630 ABBA01005246;AC067930;AC243411;AK096752;AK303125;AK313560;AMYH02018945;BC001941;BC093061;BF223661;CB132195;CH471162;GM744697;NM_003313;U58766;XM_005251050;XM_005251051;XM_005251052;XM_006725093;XM_006725094 AAC50786;AAH01941;AAH93061;ADQ32304;BAG36334;BAG53358;BAG64231;CAV31711;EAW82217;EAW82218;EAW82219;EAW82220;EAW82221;EAW82222;NP_003304;Q13630;XP_005251107;XP_005251108;XP_005251109;XP_006725156;XP_006725157 Hs.404119 1683078;1694480 G42973;RH17920 FX;P35B;SDR4E1 3-5 epimerase/4-reductase;GDP-4-keto-6-deoxy-D-mannose epimerase-reductase;GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase;GDP-L-fucose synthase;OTTHUMP00000228670;OTTHUMP00000228671;OTTHUMP00000228672;Tissue-specific transplantation antigen-3;red cell NADP(H)-binding protein;short chain dehydrogenase/reductase family 4E, member 1;short-chain dehydrogenase/reductase family 4E member 1;tissue specific transplantation antigen 3 APPROVED protein-coding ENSG00000104522 HGNC:12390 00654 137020 REVIEWED 1344161 TTC21B tetratricopeptide repeat domain 21B This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011] 2 2 2 q24.3 160340419 160420342 - 166729872 166810348 - 165873362 165953838 - 737633;1580863;6480464;8699517;8554872;7240710 12477932 12056414;14702039;16344560;20301500;20301743;21068128;21139048;21258341;21963094;22118674;22797925 79809 A8KA77;H9KV93;Q7Z4L5 AB073395;ABBA01004925;ABBA01004926;ABBA01004927;AC009495;AC010127;AC011241;AC011303;AC019140;AC108031;AK057268;AK096451;AK292942;AMYH02005138;BC035767;BC055424;BC063579;BX114229;BX647903;CH471058;CK905149;DA798655;NG_030345;NM_024753;XM_006712761 AAH35767;AAH55424;AAH63579;AAY14750;BAB71404;BAE45724;BAF85631;BAG53294;EAX11321;EAX11322;NP_079029;Q7Z4L5;XP_006712824 Hs.310672 1667618;1725001;2123711;5022578;5037552 D1S1423;D8S2279;RH118796;RH16316;STS-AA034916 ATD4;FLJ11457;IFT139;JBTS11;NPHP12;Nbla10696;SRTD4;THM1 OTTHUMP00000205022;TPR repeat protein 21B;putative protein product of Nbla10696;tetratricopeptide repeat protein 21B APPROVED protein-coding ENSG00000123607 HGNC:25660 07752 612014;613819;613820 REVIEWED 7380236 TTC21B-AS1 TTC21B antisense RNA 1 ASSOCIATED WITH NEPHRONOPHTHISIS 12 (inferred) 2 2 2 q24 160400365 160414824 + 166790367 166804831 + 165933857 165948321 + 8554872 14702039;16344560 100506134 ABBA01004926;AC010127;AC011241;AK123487;AMYH02005138;DA373445;DA374147;DA378622;DA379626;NG_030345;NR_038983;NR_038984 Hs.672319 ncrna HGNC:41115 VALIDATED 1605998 TTC22 tetratricopeptide repeat domain 22 This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011] 1 1 1 p32.3 53534348 53554537 - 55246752 55266941 - 54781079 54801268 - 6480464 14702039;16710414;8889548 55001 H0Y486;Q5TAA0 ABBA01074707;AC096536;AI923972;AK000626;AL049431;AL139244;AMYH02001059;AW170453;AW195337;BM929669;CH471059;NG_029054;NM_001114108;NM_017904 BAA91293;EAX06667;EAX06668;NP_001107580;NP_060374;Q5TAA0 Hs.16230 2115587;2174867 AF021110;D1S3129 FLJ20619 OTTHUMP00000011560;OTTHUMP00000011561;TPR repeat protein 22;tetratricopeptide repeat protein 22 APPROVED protein-coding ENSG00000006555 HGNC:26067 07932 REVIEWED 735470 TST thiosulfate sulfurtransferase (rhodanese) This is one of two neighboring genes encoding similar proteins that each contain two rhodanese domains. The encoded protein is localized to the mitochondria and catalyzes the conversion of thiosulfate and cyanide to thiocyanate and sulfite. In addition, the protein interacts with 5S ribosomal RNA and facilitates its import into the mitochondria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 22 22 22 q13.1 21208242 21216827 - 37406900 37416224 - 37010859 37020183 - 1580863;6480464;6907045;8699517 10591208;11112515;11788560;12477932;12665801;12962704;1451437;14702039;15153070;15461802;15489334;15910006;16343079;16500920;16790311;1691817;17035239;18029348;19695240;2006499;20099848;20663881;20877624;21175961;21685364;21890473;21922874;22939629;23399736;24654937;2817794;3178139;3471602;3479705;6402020;6573305;6588145;6928732;8125298;8254022;8340386;8404072;9070219;986188 7263 B1AH48;Q16762 ABBA01055458;ABBA01055459;AI869664;AK000862;AK091874;AK223521;AK301300;AMYH02038329;AW070418;BC010148;BI820468;BQ231617;CH471095;CR456598;CR456998;D87292;NG_027994;NM_001270483;NM_003312;Z73420 AAH10148;BAA13327;BAD97241;BAG52433;BAG62856;CAG30484;CAG33279;CAK54629;CAK54928;EAW60132;NP_001257412;NP_003303;Q16762 Hs.474783 1747425;2108611;2142118 D22S317E;G65336;TST_8693 MGC19578;RDS OTTHUMP00000197761;rhodanese;thiosulfate sulfurtransferase APPROVED protein-coding ENSG00000128311 HGNC:12388 01583 180370 REVIEWED 1603175 TTC23L tetratricopeptide repeat domain 23-like ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 5 5 5 p13.2 34721072 34781799 + 34839269 34899567 + 34839142 34899488 + 6480464;8554872 12477932;14702039;17207965;18976975;20379614;24722188 153657 D6RB54;Q6PF05 ABBA01039264;ABBA01039265;AC026801;AK058168;AK097766;AK293829;AMYH02011153;AY498865;BC032871;BC057775;BX088767;CH471119;JN799997;NM_144725;XM_005248259;XM_006714447;XM_006714448;XM_006714449 AAH57775;AAR92152;ADQ32973;AER93257;BAB71699;BAG57232;EAW55900;EAW55901;NP_653326;Q6PF05;XP_005248316;XP_006714510;XP_006714511;XP_006714512 Hs.435742 1674053 WI-11211 FLJ25439;MC25-1 OTTHUMP00000221044;OTTHUMP00000221046;tetratricopeptide repeat protein 23-like protein-coding ENSG00000205838 HGNC:26355 08691 VALIDATED 1601741 TTC23 tetratricopeptide repeat domain 23 INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 5-aza-2'-deoxycytidine; atrazine 15 15 15 q26.3 76095478 76208785 - 99676528 99791431 - 99136323 99251226 - 6480464 12477932;14702039;15342556;16341674;16344560;20200953;21555518;21832049;23275563;8125298 64927 H0YET0;H0YKN9;H0YM10;H0YMN1;H0YN45;H0YNH7;H0YNV8;H7BZG4;Q5W5X9 ABBA01020556;ABBA01020557;AC022819;AC036108;AF411456;AK022634;AK023001;AK023230;AK222580;AK291690;AMYH02031150;AMYH02031151;AMYH02031152;BC015728;BC034816;BM755170;BP288479;CH471101;DA230337;DA448674;DA644193;DA681018;DA743180;DA992241;DB014606;DB088037;DB178976;DB238664;NM_001288615;NM_001288616;NR_109947;XM_005254969;XM_005254970;XM_005254971;XM_005254972;XM_005254973;XM_006720647;XM_006720648;XM_006720649;XM_006720650 AAH15728;AAQ03215;BAB14144;BAB14480;BAD96300;BAF84379;BAG51147;EAX02234;EAX02235;EAX02236;EAX02237;EAX02238;EAX02239;NP_001275544;NP_001275545;Q5W5X9;XP_005255026;XP_005255027;XP_005255028;XP_005255029;XP_005255030;XP_006720710;XP_006720711;XP_006720712;XP_006720713 Hs.513195;Hs.621260;Hs.737076 1646892;1690272;1707546;1766639;1768817;1777689 D7S1645;RH1644;RH91821;SHGC-149934;SHGC-33473;SHGC-84584 FLJ12572;FLJ12939;HCC-8 OTTHUMP00000190851;OTTHUMP00000190852;OTTHUMP00000190853;OTTHUMP00000233171;TPR repeat protein 23;cervical cancer proto-oncogene 8 protein;proto-oncogene 8;tetratricopeptide repeat protein 23 protein-coding ENSG00000103852 HGNC:25730 07777 VALIDATED 1602975 TTC24 tetratricopeptide repeat domain 24 ASSOCIATED WITH Melanoma (inferred) 1 1 1 q23.1 129620311 129627354 + 156549519 156556562 + 156579727 156586770 + 8554872 11181995 164118 A2A3L6 ABBA01016654;AL365181;AMYH02001976;AW628680;BQ216668;BX414790;CH471121;NM_001105669 A2A3L6;EAW52944;NP_001099139 Hs.447851 FLJ20249 OTTHUMP00000031983;OTTHUMP00000083484;TPR repeat protein 24;tetratricopeptide repeat protein 24 protein-coding ENSG00000187862 HGNC:32348 PROVISIONAL 1606214 TTC25 tetratricopeptide repeat domain 25 FOUND IN cytoplasm; INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; tunicamycin 17 17 17 q21.2 36737424 36772368 + 40086888 40117669 + 41930635 41965651 + 6480464 11076863;11230166;11256614;12477932;14702039;15489336;16381901;17353931;21139048;24250222 83538 Q96NG3 ABBA01006442;ABBA01006443;ABBA01006444;ABBA01006445;AC091172;AC125257;AK055498;AL136760;AMYH02033418;AMYH02033419;AMYH02033420;AMYH02033421;BC025390;BC067297;CF593846;CH471152;NM_031421;NR_110662;XM_006722129 AAH25390;AAH67297;BAB70936;CAB66694;CAL38571;EAW60782;EAW60783;EAW60784;NP_113609;Q96NG3;XP_006722192 Hs.201134 2146044 AFM291WH5 DKFZp434H0115 TPR repeat protein 25;tetratricopeptide repeat protein 25 protein-coding ENSG00000204815 HGNC:25280 10888 VALIDATED 1605330 TTC26 tetratricopeptide repeat domain 26 INVOLVED IN cilium assembly (ortholog); FOUND IN primary cilium (ortholog); INTERACTS WITH 17beta-estradiol; atrazine; cyclosporin A 7 7 7 q34 133556647 133612709 + 138818490 138874550 + 139133744 139191986 + 6480464 12477932;14702039;15342556;19913121;20628086;21139048;21906983;21963094;8889548 79989 A0AVF1;B7Z1H0;B7Z2T3;B7Z6R6;F8WEZ4;Q96CU4 ABBA01001184;AC009220;AC018644;AI375270;AK022633;AK293444;AK295092;AK299132;AK300807;AL137393;AMYH02016884;BC013912;BC034466;BC126331;BC130339;BC144151;BP315162;CA450032;CH236950;CH471070;NM_001144920;NM_001144923;NM_001287512;NM_001287513;NM_024926;XM_005250608;XM_006716135 A0AVF1;AAH13912;AAI26332;AAI30340;ADZ15710;BAB14143;BAH11506;BAH11969;BAH12956;BAH13352;CAB70721;EAL24039;EAW83906;EAW83907;EAW83908;NP_001138392;NP_001138395;NP_001274441;NP_001274442;NP_079202;XP_005250665;XP_006716198 Hs.133020;Hs.644553 1672438;1688358;1786476;1949478;2117516;2145733;5014051;5021872;5095058 D7S1630;D7S1969;D8S2278;MSL3L1;REN45587;RH69399;RH93298;SHGC-64771;sY3084 DYF13;FLJ12571;MGC163211;dyf-13 OTTHUMP00000212203;OTTHUMP00000212204;OTTHUMP00000212206;OTTHUMP00000212207;TPR repeat protein 26;tetratricopeptide repeat protein 26 protein-coding ENSG00000105948 HGNC:21882 07776 VALIDATED 1604350 TTC27 tetratricopeptide repeat domain 27 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; benzo[a]pyrene 2 2 2 p22.3 32697911 32890934 + 32853087 33046118 + 32628020 32821051 + 6480464;8554872 12477932;14702039;15761153;17314511;17353931;19850743;20360068;20379614;21139048;21890473;21906983;21963094;22268729;22745009;22939629;23000965;23402259;23752268;23956138;24816145;8125298 55622 B4DRC7;C9JVS4;F8WCH1;H7C178;H7C329;H7C3A3;Q6P3X3 ABBA01074895;ABBA01074896;ABBA01074897;ABBA01074898;ABBA01074899;ABBA01074900;AK000279;AK000665;AK027570;AK225295;AK299196;AL121656;AL133246;AMYH02003554;AMYH02003555;AMYH02003556;AMYH02003557;BC001248;BC063791;BI546117;CH471053;NM_001193509;NM_017735;XM_005264416 AAH01248;AAH63791;BAA91048;BAA91315;BAB55206;BAG61239;EAX00441;EAX00442;NP_001180438;NP_060205;Q6P3X3;XP_005264473 Hs.468125 1747605;2151404;2167536 G65474;RH12456;SHGC-13207 FLJ20272 OTTHUMP00000201272;TPR repeat protein 27;tetratricopeptide repeat protein 27 protein-coding ENSG00000018699 HGNC:25986 08618 VALIDATED 1348204 TTC21A tetratricopeptide repeat domain 21A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH zidovudine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); choline (ortholog) 3 3 3 p22.2 39089656 39120906 + 39149152 39180394 + 39107661 39138903 + 1580863;6480464;8554872 12477932;14702039;16344560 199223 F8WDN4;Q8NDW8 AA843452;ABBA01024812;AC092053;AC138124;AJ487015;AK022483;AK093313;AK098528;AK299774;AK302408;AK302465;AMYH02006579;AMYH02006580;BC039691;BC062621;BC129948;BX647142;CH471055;DB094952;DC403032;NM_001105513;NM_145755;XM_005264921;XM_005264922;XM_005264923;XM_005264924;XM_005264925;XM_005264926;XM_005264927;XM_006713011;XM_006713012;XR_245099;XR_427256;XR_427257 AAI29949;BAC04129;BAC05323;BAG61657;BAG63718;BAG63755;CAD31647;EAW64561;EAW64562;EAW64563;EAW64564;NP_001098983;NP_665698;Q8NDW8;XP_005264978;XP_005264979;XP_005264980;XP_005264981;XP_005264982;XP_005264983;XP_005264984;XP_006713074;XP_006713075 Hs.443935 2112656 D3S4389 DKFZp686P18239;MGC156293;MGC70523;STI2 OTTHUMP00000209000;OTTHUMP00000209001;OTTHUMP00000226206;TPR domain containing STI2;TPR repeat protein 21A;stress-inducible protein 2;tetratricopeptide repeat protein 21A protein-coding ENSG00000168026 HGNC:30761 10254 611430 VALIDATED 1601773 TTC28 tetratricopeptide repeat domain 28 INVOLVED IN mitotic nuclear division (inferred); regulation of mitotic cell cycle (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN centrosome (inferred); cytoplasm (inferred); midbody (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 22 22 22 q12.1 12173962 12875814 - 28374002 29075853 - 27978014 28679865 - 6480464;8554872 10470851;10591208;12168954;12421765;12477932;14702039;15489334;19615732;20379614;21139048;21552555;21890473;23036704;23314748;23333304;24255178 23331 B0QYP4;B0QYP5;Q96AY4 AB028966;AB665284;ABBA01055219;ABBA01055220;ABBA01055221;ABBA01055222;ABBA01055223;ABBA01055224;ABBA01055225;ABBA01055226;ABBA01055227;ABBA01055228;ABBA01055229;ABBA01055230;ABBA01055231;ABBA01055232;ABBA01055233;ABBA01055234;ABBA01055235;ABBA01055236;AK055553;AK092338;AL008722;AL008724;AL023281;AL033538;AL035397;AL035453;AL050313;AL080174;AL080241;AL118497;AL121825;AL137328;AMYH02038179;AMYH02038180;AMYH02038181;AMYH02038182;AMYH02038183;AMYH02038184;AMYH02038185;AMYH02038186;AMYH02038187;AMYH02038188;AMYH02038189;AMYH02038190;AMYH02038191;BC016465;KF457393;NM_001145418;XM_005261405;XM_006724171 AAH16465;BAA82995;BAM66822;CAB45760;CAB62963;CAB62964;CAB70697;NP_001138890;Q96AY4;XP_005261462;XP_006724234 Hs.387856 1340346;1648068;1683593;1713627;1713771;1728561;1731369;1747557;1747559;1747561;1747563;1747565;1747567;1747569;1748385;1748387;1767258;1777135;1781080;1781082;1847522;1857046;2116182;2116311;2141634;2147051;2152301;2155795;2158045;2162092;2165141;2171295;2174690;2175413;2178992;2182751;2184933;2187363;7184802 AL031086;D18S21;D22S1262;D22S29;D22S298;D22S566;D22S567;D22S570;D22S571;D22S576;D22S594;D22S689;D22S693;D22S986E;G18168;G63570;G65443;G65444;G65445;G65446;G65447;G65448;G65449;G65733;G65734;RH120694;RH120772;RH1698;RH44930;RH47125;RH69365;SHGC-32911;SHGC-56533;SHGC-58212;SHGC-7715;WI-13513;stbK732E4.0.179;stbK754D9T7 KIAA1043;TPRBK OTTHUMP00000198926;TPR repeat protein 28;TPR repeat-containing big gene cloned at Keio;TPR-containing big gene cloned at Keio;tetratricopeptide repeat protein 28 protein-coding ENSG00000100154 HGNC:29179 10020 615098 VALIDATED 1605320 TTC29 tetratricopeptide repeat domain 29 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; pirinixic acid; trichostatin A 4 4 4 q31.22 144948722 145187595 - 147628179 147867034 - 146707027 146945882 - 6480464;8554872 11329013;12477932;14702039;16344560;20379614;8125298 83894 D6R945;D6RJF6;E7EQ14;E7EQZ6;G5E9Z5;Q8NA56;Q8TC83 ABBA01070051;ABBA01070052;AC092435;AC093887;AC097497;AC106050;AF345910;AK093145;AK225725;AK301807;AK314066;AMYH02010264;AMYH02010265;AMYH02010266;BC024193;BG184376;BG216688;CH471056;DB034049;EF432564;NM_001300761;NM_031956;XM_005263269;XM_005263270;XM_006714335;XM_006714336;XM_006714337;XM_006714338;XM_006714339;XR_427552 AAH24193;AAK29064;ABO31099;BAC04072;BAG63257;EAX05022;EAX05023;EAX05024;NP_001287690;NP_114162;Q8NA56;XP_005263326;XP_005263327;XP_006714398;XP_006714399;XP_006714400;XP_006714401;XP_006714402 Hs.378893 1663335;1672290;1695118;1725267;1851109;2133949;2153062;2158375;2174840;2175296 D4S1066;D4S1245;D4S2825;D4S498;G33943;G34315;G48198;RH123238;SHGC-50684;SHGC4-1603 NYD-SP14;TBPP2A OTTHUMP00000221147;OTTHUMP00000221148;TPR repeat protein 29;testis development protein NYD-SP14;tetratricopeptide repeat protein 29 protein-coding ENSG00000137473 HGNC:29936 14866 VALIDATED 1603937 TTC30A tetratricopeptide repeat domain 30A INTERACTS WITH all-trans-retinoic acid; atrazine; cyclosporin A 2 2 2 q31.2 172081886 172086554 - 178479026 178483694 - 177614298 177618966 - 6480464 12477932;14702039;23333304;24250222;8889548 92104 Q86WT1 ABBA01062238;AC073834;AK057530;AK125104;AK292395;AL049329;AMYH02005315;BC017695;BC042848;BC048006;BM684657;BQ015522;CH471058;NM_152275 AAH42848;AAH48006;ADZ15563;BAF85084;CAB43676;EAX11053;EAX11054;NP_689488;Q86WT1 Hs.128384 1739281 D2S1939E FLJ13946;FLJ77601 OTTHUMP00000163351;TPR repeat protein 30A;tetratricopeptide repeat protein 30A protein-coding HGNC:25853 08590 VALIDATED 4107238 TTC28-AS1 TTC28 antisense RNA 1 INTERACTS WITH formaldehyde; lead(0); lead(2+) 22 22 22 q12.1 12115329 12198626 + 28315364 28398667 + 27919376 28002679 + 6480464 11258795;12477932;15461802;16344560;21552555;8889548 284900 AB051435;ABBA01055217;ABBA01055218;ABBA01055219;AL031591;AL033538;AL832597;AMYH02038179;BC016779;BC028176;BC060374;BQ018666;BU740789;CH471095;CT841515;DA934139;DB254752;NR_026962;NR_026963 BAB33318;CAJ86445;EAW59747 Hs.602319 1683593;1747557;1747559;1747561;1747563;1747565;1748385;1748387;2147051;2152301;2162092 D22S1262;D22S986E;G65443;G65444;G65445;G65446;G65447;G65733;G65734;RH1698;RH69365 KIAA1648;TTC28-AS;TTC28AS;dJ353E16.2 APPROVED ncrna ENSG00000235954 HGNC:29336 VALIDATED 1603563 TTC30B tetratricopeptide repeat domain 30B INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 2 2 2 q31.2 172017725 172020369 - 178414880 178417524 - 177550152 177552796 - 6480464 12477932;14702039;16344560 150737 Q8N4P2 ABBA01062238;AC073834;AI498353;AK055552;AK296828;AMYH02005314;AW007843;BC033795;BX647620;DA260391;DA557876;NM_152517 AAH33795;ADZ15932;BAB70953;BAG59398;CAH56200;NP_689730;Q8N4P2 Hs.447659 1856987 RH12009 FLJ30990;IFT70 OTTHUMP00000205215;TPR repeat protein 30B;fleer;tetratricopeptide repeat protein 30B protein-coding HGNC:26425 08706 VALIDATED 1605580 TTC32 tetratricopeptide repeat domain 32 ENCODES a protein that exhibits identical protein binding (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; aflatoxin B1 2 2 2 p24.1 19958875 19964108 - 20096514 20101747 - 19896753 19901986 - 6480464 12477932;15489334;17207965;21906983;22751097;23824909 130502 B5MCJ1;C9JV54;Q5I0X7 ABBA01018487;AC013400;AMYH02003363;AX118999;BC057850;BC070381;CH471053;NM_001008237 AAH57850;ADQ31962;CAC38573;EAX00842;EAX00843;NP_001008238;Q5I0X7 Hs.591547 OTTHUMP00000200513;TPR repeat protein 32;tetratricopeptide repeat protein 32 protein-coding ENSG00000183891 HGNC:32954 17296 PROVISIONAL 1606815 TTC33 tetratricopeptide repeat domain 33 INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; cyclosporin A 5 5 5 p13.1 40600249 40644657 - 40711678 40756072 - 40711576 40755970 - 6480464 12477932;16344560;19322201;20360068;21139048;21906983;23455924;24816145;8889548 23548 Q6PID6;Q9H3A1 ABBA01024221;ABBA01024222;ABBA01024223;AC008810;AC093264;AF023244;AF130073;AI174764;AK303119;AK307131;AK312560;AMYH02011212;BC015701;BC036536;BE869916;BF509085;BM543635;BM689740;BQ922097;CH471119;CR738110;DA518274;DA652008;NM_012382;XM_005248276;XM_006714462 AAD09341;AAG35500;AAH15701;AAH36536;ABM83290;ABM86499;BAG35457;BAG64225;EAW55998;EAW55999;NP_036514;Q6PID6;XP_005248333;XP_006714525 Hs.348915;Hs.621357 1660277;2133472;5095028;7185126 D5S1543;STS-N63422;TTC33 OSRF OTTHUMP00000161794;TPR repeat protein 33;osmosis responsive factor;osmosis-responsive factor;tetratricopeptide repeat protein 33 protein-coding ENSG00000113638 HGNC:29959 17807 VALIDATED 6480854 TTC3-AS1 TTC3 antisense RNA 1 21 21 38559913 38566227 - 37187612 37193926 - 12477932 100874006 ABBA01057413;AMYH02037794;AP001432;BC066351;BF979681;XR_244308;XR_248987;XR_254031 Hs.570411 APPROVED ncrna ENSG00000228677 HGNC:40595 MODEL 2293894 TTC34 tetratricopeptide repeat domain 34 INTERACTS WITH C60 fullerene (ortholog); choline (ortholog); folic acid (ortholog) 1 1 1 p36.32 1898499 1923916 - 2572807 2706230 - 2641368 2789665 - 6480464 16710414;21145461;24250222 100287898 A8MYJ7;B7ZC41;J3KQ58 ABBA01016105;ABBA01073676;ABBA01156803;AC234231;AC242022;AL592464;AL831784;AMYH02000127;AMYH02000128;AMYH02000129;DY655627;NM_001242672 A8MYJ7;NP_001229601 Hs.632363 OTTHUMP00000202542;TPR repeat protein 34;TPR repeat-containing protein ENSP00000383873;tetratricopeptide repeat protein 34 protein-coding ENSG00000215912 HGNC:34297 PROVISIONAL 8693556 TTC39A-AS1 TTC39A antisense RNA 1 1 p32.3 51329662 51331281 + 16712791 102724097 ABBA01074804;ABBA01074805;AL671986;AMYH02000998;BF675965;CB128747;HG492016;NR_123731;XR_425177;XR_426689;XR_431162 Hs.568648 ncrna ENSG00000261664 HGNC:40851 VALIDATED 1602885 TTC38 tetratricopeptide repeat domain 38 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; arsenous acid; copper(2+) sulfate 22 22 22 q13 30571246 30597288 + 46663861 46689905 + 46267964 46294008 + 6480464;8554872 12477932;16344560;17207965;21900206;21906983;21963094 55020 A9UJP8;F8WBU8;H7C089;H7C2L7;Q5R3I4 ABBA01010444;ABBA01010445;AI243497;AK000706;AK300606;AMYH02038536;BC018918;CH471138;DA762669;NM_017931;XR_244380;Z93024 AAH18918;ADQ32377;BAA91331;BAG62302;EAW73412;EAW73413;EAW73414;EAW73415;NP_060401;Q5R3I4 Hs.435832 1340759;1722663;2135713;2171597 A004X26;D22S1149;G60415;RH48511 FLJ20699;LL22NC03-5H6.5 OTTHUMP00000197572;TPR repeat protein 38;tetratricopeptide repeat protein 38 protein-coding ENSG00000075234 HGNC:26082 07943 VALIDATED 1318550 TTC3 tetratricopeptide repeat domain 3 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein K48-linked ubiquitination; ubiquitin-dependent protein catabolic process; ASSOCIATED WITH Melanoma (inferred); FOUND IN mitochondrion; nucleus; INTERACTS WITH 3-methylcholanthrene; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 21 21 21 q22.2 23643936 23773795 + 38445554 38575408 + 37073254 37203107 + 1580863;6480464;8554872 10781955;10830953;12477932;14702039;15231748;17488780;18029348;18854154;19285159;20059950;20379614;20463881;21139048;21890473;21900206;8724848;8947847;9254009;9503011 7267 A8MT23;B4DSZ9;E9PCE7;E9PMP8;E9PMS7;H7BZ57;H7C097;H7C3Z1;P53804 ABBA01057411;ABBA01057412;ABBA01057413;AJ001866;AK125473;AK291992;AK297921;AK299991;AMYH02037793;AMYH02037794;AP001429;AP001432;AY523634;BC026260;BC047867;BC063033;BC092466;BC137345;BI915053;BQ893819;CA420000;CH471079;CR936616;D83077;D83327;D84294;D84295;D84296;KC877874;KC877883;KF454924;KF495671;KF510132;KF510552;KF510554;NM_001001894;NM_003316;XM_005261045;XM_005261046;XM_005261047;XM_005261048;XM_005261049;XM_005261050;XM_005261051;XM_005261052;XM_005261053;XM_005261054;XM_005261055;XM_005261056;XM_005261058 AAH63033;AAH92466;AAI37346;AAT28185;BAA11769;BAA12301;BAA12302;BAA12303;BAA23666;BAF84681;BAG60239;BAG61811;CAA05057;CAI56759;EAX09716;EAX09717;EAX09718;EAX09719;EAX09720;EAX09721;EAX09722;EAX09723;NP_001001894;NP_003307;P53804;XP_005261102;XP_005261103;XP_005261104;XP_005261105;XP_005261106;XP_005261107;XP_005261108;XP_005261109;XP_005261110;XP_005261111;XP_005261112;XP_005261113;XP_005261115 Hs.368214 1335367;1337902;1342361;1654719;1658561;1661069;1662109;1685187;1689618;1694868;1724061;1735044;1759819;1773579;2115365;2129924;2145252;2148406;2182578;5014051;5037552;7186492 D21S1735E;D21S1829;D21S1900;D21S1919;D21S2036;D21S267;D8S2278;D8S2279;G34679;G44308;RH119042;RH77745;RH79580;RH93278;SHGC-170060;SHGC-31018;SHGC-51950;SHGC-51951;SHGC-51952;SHGC-9923;WI-19945 DCRR1;DKFZp686M0150;RNF105;TPRDIII E3 ubiquitin-protein ligase TTC3;OTTHUMP00000109081;OTTHUMP00000109082;OTTHUMP00000109084;OTTHUMP00000109089;RING finger protein 105;TPR repeat protein 3;TPR repeat protein D;tetratricopeptide repeat protein 3 protein-coding ENSG00000182670 HGNC:12393 03773 602259 VALIDATED 1605049 TTC31 tetratricopeptide repeat domain 31 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cobalt dichloride; cyclosporin A; elemental selenium 2 2 2 p13.1 74541365 74552855 + 74710200 74721691 + 74483073 74494564 + 6480464;8554872 12477932;14702039;15489334;16751776;21790010;8125298 64427 B4DZV1;D6W5I8;G5E9H3;H7BZ54;Q49AM3 ABBA01075602;AC005041;AK022850;AK026819;AK090520;AK223355;AK225626;AK301585;AK303105;AK303245;AMYH02004091;BC036017;BC045536;BC047084;BC060805;BC096709;BC098114;BC098365;BC099729;BX648131;CH471053;NM_022492;NR_027749;XM_005264491;XM_005264492;XM_005264493;XM_005264496;XM_005264497;XM_006712077;XR_244951;XR_244952 AAH36017;AAH45536;AAH96709;AAH98365;BAB14272;BAD97075;BAG52176;BAG63076;BAG64213;BAG64329;EAW99638;EAW99639;EAW99640;EAW99641;EAW99642;EAW99643;EAW99644;EAW99645;EAW99646;EAW99647;EAW99648;NP_071937;Q49AM3;XP_005264548;XP_005264549;XP_005264550;XP_005264553;XP_005264554;XP_006712140 Hs.557709 2117530 WI-11593 FLJ12788;FLJ33201;MGC120200 OTTHUMP00000202636;OTTHUMP00000202639;TPR repeat protein 31;tetratricopeptide repeat protein 31 protein-coding ENSG00000115282 HGNC:25759 07797 VALIDATED 1322418 TTC39A tetratricopeptide repeat domain 39A INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; calcitriol 1 1 1 p32.3 50039459 50097314 - 51752930 51810785 - 51287258 51345113 - 6480464 12477932;9455484;9461476 22996 D3DQ30;E9PAZ4;E9PHX9;E9PQ33;E9PQX3;F8W961;Q5SRH9;U5GXS1 AB007921;ABBA01074804;ABBA01074805;ABBA01074806;ABBA01074807;AF007170;AK000220;AK298019;AK301587;AK311430;AL162430;AL671986;AMYH02000998;BC004399;BC028374;BI761577;BQ227134;CB128766;CH471059;CX788693;DA871604;DB460455;DC381029;HY029911;NM_001080494;NM_001144832;NM_001297662;NM_001297663;NM_001297664;NM_001297665;NM_001297666;NM_001297667;XM_005270641;XM_005270643;XM_005270644;XM_005270645;XM_005270646;XM_006710471 AAC39582;AAH04399;AAH28374;AAI60047;BAA32297;BAH12705;BAH13518;EAX06826;EAX06828;EAX06829;NP_001073963;NP_001138304;NP_001284591;NP_001284592;NP_001284593;NP_001284594;NP_001284595;NP_001284596;Q5SRH9;XP_005270698;XP_005270700;XP_005270701;XP_005270702;XP_005270703;XP_006710534 Hs.112949 1701004;1724465;2131673;2160012 AL009544;AL009660;RH104129;RH122397 C1orf34;DEME-6;KIAA0452 OTTHUMP00000009899;OTTHUMP00000009901;OTTHUMP00000009902;OTTHUMP00000009903;OTTHUMP00000231716;TPR repeat protein 39A;differentially expressed in MCF7 with estradiol protein 6;tetratricopeptide repeat protein 39A protein-coding ENSG00000085831 HGNC:18657 VALIDATED 2293598 TTC36 tetratricopeptide repeat domain 36 INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 11 11 11 q23.3 115559004 115562534 + 118398210 118401740 + 118527495 118531025 + 6480464 12477932;18587674;23314748 143941 A6NLP5;E9PNF0 ABBA01039706;AMYH02025642;AP000941;AX400021;BC146916;BC146921;BC171906;BC171913;CH471065;EU489483;NM_001080441 A6NLP5;AAI46917;AAI46922;AAI71906;AAI71913;ACA62794;CAD33465;EAW67387;NP_001073910 Hs.653449 1672870;2129960 RH44274;WI-22011 HBP21 HSP70 binding protein 21;HSP70-binding protein 21;OTTHUMP00000232655;TPR repeat protein 36;tetratricopeptide repeat protein 36 protein-coding HGNC:33708 PROVISIONAL 1314048 TTC39B tetratricopeptide repeat domain 39B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; copper(2+) sulfate 9 9 9 p22.3 15104514 15241039 - 15170842 15307358 - 15170844 15307360 - 6480464;8554872 12477932;14702039;17213182;19060906;19850743;20379614;20571754;20686565;20705733;20864672;20889312;20972250;22925353;24097068 158219 B4DVQ6;H0YAJ6;Q5VTQ0 ABBA01065280;ABBA01065281;ABBA01065282;ABBA01065283;ABBA01065284;ABBA01065285;AI473911;AK091187;AK093459;AK298581;AK298998;AK301185;AK301427;AK310271;AK310482;AL591393;AMYH02019204;AMYH02019205;BC038592;BC042417;BC070139;BC142985;BX105862;CH471071;DT217817;NM_001168339;NM_001168340;NM_001168341;NM_001168342;NM_152574 AAH38592;AAH42417;AAI42986;BAC03603;BAG60772;BAG61086;BAG62768;BAG62955;EAW58683;EAW58684;EAW58685;NP_001161811;NP_001161812;NP_001161813;NP_001161814;NP_689787;Q5VTQ0 Hs.563630 1659118;1718867;1757217;1787142;2114052;2133262;2178168 AB071091;GDB:1318581;RH123138;RH35968;SHGC-144635;SHGC-155663;SHGC-33781 C9orf52;FLJ33868 OTTHUMP00000021065;OTTHUMP00000223199;OTTHUMP00000223200;OTTHUMP00000223201;TPR repeat protein 39B;tetratricopeptide repeat protein 39B protein-coding ENSG00000155158 HGNC:23704 10801 613574 VALIDATED 9587246 TTC39C-AS1 TTC39C antisense RNA 1 18 q11.2 24000528 24006493 - 102724246 ABBA01022622;AC010754;AMYH02034426;BX102499;DB448536;DB513641;HG509848;HY054557;NR_110796;XR_424916;XR_430091;XR_433473 Hs.569872;Hs.606261 ncrna HGNC:51321 VALIDATED 6483982 TTC39CP1 tetratricopeptide repeat domain 39C pseudogene 1 4 4 4 q26 114407479 114408197 - 117115187 117115905 - 116194031 116194749 - 9847074 100288825 ABBA01063858;AC024248;AC027613;AC073338;AMYH02009970;NG_022030 1341726;1679063;1708104;2142555 AFM266vf9;D4S1573;SHGC-50155;SHGC-81450 pseudo HGNC:44019 INFERRED 1345290 TTC39C tetratricopeptide repeat domain 39C INTERACTS WITH (+)-catechin; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 18 18 18 q11.2 18389024 18531881 + 21572737 21715574 + 23992773 24135610 + 737633;6480464 12477932 14702039;15489334;16177791;22939629 125488 G3V1P2;J3QKX7;J3QLL8;Q8N584 ABBA01022619;ABBA01022620;ABBA01022621;ABBA01022622;AC010754;AC090772;AK074875;AK091080;AK296442;AMYH02034426;AMYH02034427;AMYH02034428;AMYH02034429;AMYH02034430;AW003831;BC016833;BC032684;BC121034;BC121035;BM069557;CH471088;KF456356;NM_001135993;NM_001243425;NM_001292030;NM_153211;XM_005258198;XM_006722392 AAH32684;AAI21035;AAI21036;BAC03578;BAH12356;EAX01169;EAX01170;EAX01171;NP_001129465;NP_001230354;NP_001278959;NP_694943;Q8N584;XP_005258255;XP_006722455 Hs.128576;Hs.732771 1651621;1651623;1656990;1664493;1691378;1697668;1722193;1725147;2137480;2149371;2183863;5014051;5015621;5020948;5022200;5022578;5037552 A004U13;A005N33;D11S3732;D1S1423;D8S2278;D8S2279;G09806;G20357;G35510;G42068;G60150;L18426;RH102349;RH118876;RH68668;STS-AA016083;STS-T03922 C18orf17;FLJ33761;FLJ90394;HsT2697 TPR repeat protein 39C;tetratricopeptide repeat protein 39C protein-coding ENSG00000168234 HGNC:26595 08745 VALIDATED 2291791 TTC3P1 tetratricopeptide repeat domain 3 pseudogene 1 X X X q13.3 75243698 75246239 - 74960373 74962914 - 75740538 75743079 - 286495 ABBA01059415;AK304575;AL391495;AMYH02039790;AY672106;NR_030737 BAH14219 Hs.567832 1714311;1759819 RH119935;SHGC-170060 RNF105L;TTC3L APPROVED pseudo HGNC:23318 VALIDATED 1318353 TTC4 tetratricopeptide repeat domain 4 This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014] 1 1 1 p32.3 53469087 53495920 + 55181495 55208330 + 54715822 54742657 + 1580863;6480464 10639601;10828607;11126369;12477932;14623081;14702039;15489334;16344560;17353931;18320024;19875381;21139048;21360678;21890473;21906983;21963094;22268729;22505724;22863883;22939629;23383273;24278769;24816145;25036637;8125298;9933562 7268 O95801;Q5TA95 ABBA01074708;ABBA01074709;AF063602;AF073887;AK025524;AK090964;AK123924;AK222562;AK292426;AL139244;AMYH02001059;BC001276;BT006817;CH471059;DB362353;NG_029058;NM_001291333;NM_004623 AAD19853;AAG43161;AAH01276;AAP35463;BAC85726;BAD96282;BAF85115;EAX06670;EAX06671;EAX06672;EAX06673;EAX06674;NP_001278262;NP_004614;O95801 Hs.412482;Hs.729029 2110001;2137088;2159163 Cda16a09;D7S2334;TTC4_8695 DKFZp781B0622;FLJ41930;MGC5097 OTTHUMP00000011556;OTTHUMP00000011557;TPR repeat protein 4;tetratricopeptide repeat protein 4 APPROVED protein-coding ENSG00000243725 HGNC:12394 08417 606753 REVIEWED 1349134 TTC4P1 tetratricopeptide repeat domain 4 pseudogene 1 7 7 7 p13 46138207 46139272 - 46039312 46040377 - 45999713 46000778 - 10828607;17903293 222052 ABBA01058256;AC073115;AMYH02015644;CH236958;NG_021385 TTC4P APPROVED pseudo HGNC:12395 INFERRED 1323287 TTC6 tetratricopeptide repeat domain 6 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ortholog); 3',5'-cyclic AMP (ortholog) 14 14 14 q21.1 17936772 18176147 + 38064941 38218563 + 37622610 37842628 + 6480464;8554872 11181995;12477932;15489334;19692168;20379614;23817569 319089 G3V2C3;G3V3A5;G3V435;G5E9W5;H0YJ01;Q86TZ1 ABBA01061532;ABBA01061533;ABBA01061534;ABBA01061535;ABBA01061536;ABBA01061537;AL121790;AL136296;AL163151;AMYH02029038;AMYH02029039;AMYH02029040;AMYH02029041;BC014342;BC038110;BC103914;BC103915;BC103916;BX161415;CH471078;XM_006709976;XM_006720346;XM_006726554 AAH14342;AAH38110;AAI03915;AAI03916;AAI03917;CAD61890;EAW65837;EAW65838;EAW65839;EAW65840;EAW65841;EAW65842;EAW65843;Q86TZ1;XP_006710039;XP_006720409;XP_006726617 Hs.659936 C14orf25;MGC119358;MGC119360;MGC119361;NCRNA00291 TPR repeat protein 6;tetratricopeptide repeat protein 6 protein-coding ENSG00000139865 HGNC:19739 MODEL 1322658 TTC5 tetratricopeptide repeat domain 5 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); INVOLVED IN DNA repair (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); PARTICIPATES IN p53 signaling pathway; FOUND IN nucleus; INTERACTS WITH copper(2+) sulfate; 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 14 14 14 q11.2 618437 635301 - 20757290 20774153 - 20289131 20305994 - 1580863;6480464;6484113 11511361;12477932;14702039;15489334;16344560;17207965;19322201;21139048;21145461;21147850;23559008;24091941;24816145 91875 G3V3I6;H9KV81;Q86T04;Q8N0Z6 ABBA01061222;AK074553;AL356019;AMYH02028819;BC008647;BC030822;BC053538;BM998414;BX248066;BX640732;BX648584;CH471078;CQ783482;DB051711;NM_138376 AAH08647;AAH30822;AAH53538;ACE87639;ADQ32206;BAC11056;CAD62359;CAE45848;CAF86668;EAW66480;EAW66481;EAW66482;NP_612385;Q8N0Z6 Hs.98553 1779670;1854806;2107723 SHGC-153640;TTC5__5156;WI-18343 Strap OTTHUMP00000163990;OTTHUMP00000163991;TPR repeat protein 5;stress-responsive activator of p300;tetratricopeptide repeat protein 5 protein-coding HGNC:19274 15584 VALIDATED 1314238 TTC7B tetratricopeptide repeat domain 7B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-cotinine; aflatoxin B1; arsenous acid 14 14 14 q32.11 71054409 71331315 - 91006932 91282823 - 90540588 90816479 - 6480464;8554872 12477932;12508121;15489334;21145461;21890473;21993531;22453632;24250222 145567 G3V3E4;G3V3H1;H0YIZ4;H0YJP9;H0YJS2;H0YK02;Q6PIF1;Q86TV6 ABBA01030497;ABBA01030498;AK126571;AL096869;AL122020;AL139193;AL832848;AMYH02029729;AMYH02029730;AMYH02029731;AMYH02029732;BC035865;BC048270;BG489583;BQ426031;BX247966;BX248275;CB988671;CH471061;NM_001010854;XM_005267367;XM_006720058;XM_006720059 AAH35865;AAH48270;AAI48530;AAI53123;BAG54346;CAD62305;CAD62603;CAI46128;EAW81433;EAW81434;EAW81435;EAW81436;EAW81437;EAW81438;NP_001010854;Q86TV6;XP_005267424;XP_006720121;XP_006720122 Hs.655697 1336627;1649821;1651543;1662931;1678865;1698974;1704546;1731649;1753627;1779360;1848517;2140596;2150052;2164600;2180301;5092768;7185478 1088;D14S100E;D14S1242;D14S1261;D14S148;D14S291;FB20F6;G32318;G35691;G35974;RH103056;RH47639;RH66997;SHGC-107542;SHGC-153355;SHGC-83079 TTC7L1;c14_5685 OTTHUMP00000244945;TPR repeat protein 7-like-1;TPR repeat protein 7B;tetratricopeptide repeat domain 7 like 1;tetratricopeptide repeat protein 7-like-1;tetratricopeptide repeat protein 7B protein-coding HGNC:19858 18503 PROVISIONAL 1314700 TTC7A tetratricopeptide repeat domain 7A This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 2 2 2 p21 47007266 47142129 + 47168313 47303275 + 46916129 47076136 + 1580863;6480464;7240710;8554872;8699517 10574461;12168954;12477932;14702039;15489334;15718100;16344560;17081983;19898481;20339536;20932654;21890473;21906983;23423984;23830146;24292712;24417819;8889548 57217 B3KPK7;G5E9G4;H0Y3V7;H7C055;H7C1P2;I6L9J2;Q2T9J9;Q9ULT0 AA504156;AB032966;ABBA01075146;ABBA01075147;ABBA01075148;ABBA01075149;ABBA01075150;AC016722;AC073283;AC093732;AI694289;AK056464;AL117512;AL834383;AMYH02003745;AMYH02003746;AMYH02003747;AMYH02003748;AMYH02003749;BC001978;BC027457;BC035708;BC065554;BC082965;BC111487;BC114365;BM683111;CH471053;DA379361;NG_034143;NM_001288951;NM_001288953;NM_001288955;NM_020458;XM_005264439;XM_005264440;XR_244949 AAH01978;AAH27457;AAH65554;AAI11488;AAI14366;BAA86454;BAG51719;CAD39046;EAX00226;EAX00227;EAX00228;EAX00229;NP_001275880;NP_001275882;NP_001275884;NP_065191;Q9ULT0;XP_005264496;XP_005264497 Hs.370603;Hs.736871;Hs.738494 1340580;1677484;1678467;1696146;1697240;1705030;2180914;5095203 Clen32;D2S2227;RH102114;RH15945;RH69939;RH93668;SHGC-78032;SHGC-79084 MGC131720;MGC134830;TTC7 MINAT;OTTHUMP00000203176;OTTHUMP00000203190;OTTHUMP00000203192;OTTHUMP00000203193;TPR repeat protein 7A;tetratricopeptide repeat domain 7;tetratricopeptide repeat protein 7A APPROVED protein-coding ENSG00000068724 HGNC:19750 18239 243150;609332 REVIEWED 1318967 TTC9 tetratricopeptide repeat domain 9 This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Mar 2009] 14 14 14 q24.2 51172455 51206028 + 71108504 71142077 + 70641787 70675360 + 1580863;6480464 12477932;15489334;16678794;18699990;9039502 23508 Q92623 ABBA01030812;AC004816;AL357153;AMYH02029452;BC047950;BX407741;CH471061;D86980;KF455928;NG_012648;NM_015351 AAH47950;AAI60145;BAA13216;EAW81043;EAW81044;NP_056166;Q92623 Hs.79170 1662322;1665526;1665528;1669676;1680511;1740141;2115692;2162808;2164130;2164132;2170920;2178612 A005T47;A006H41;D14S906;G20494;G20823;G38116;G38244;G38256;RH25433;SHGC-3622;STS-Z40406;WI-20573 KIAA0227;TTC9A TPR repeat protein 9A;tetratricopeptide repeat protein 9A APPROVED protein-coding ENSG00000133985 HGNC:20267 610488 REVIEWED 1603894 TTC9B tetratricopeptide repeat domain 9B INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 19 19 19 q13.2 37521518 37523859 - 40721965 40724306 - 40216058 40218399 - 6480464 12477932;14702039 148014 Q8N6N2 ABBA01040746;AC118344;AK054935;AK289550;AMYH02036106;BC029539;CA432622;CH471126;NM_152479 AAH29539;BAB70830;BAF82239;EAW56938;NP_689692;Q8N6N2 Hs.631572 2186816 RH66648 FLJ30373;MGC33962 TPR repeat protein 9B;tetratricopeptide repeat protein 9B protein-coding ENSG00000174521 HGNC:26395 08329 VALIDATED 1350554 TTD trichothiodystrophy 8213812 7269 HGNC:12396 1314461 TTC37 tetratricopeptide repeat domain 37 This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010] 5 5 5 q15 90678012 90769146 - 94799599 94890709 - 95463895 95555005 - 737633;6480464;8699517;8554872;7240710 12477932 15231748;15489334;16024656;20176027;21120949;21139048;21145461;21890473;21906983;22586326;22939629;24250222;24816145;9205841 9652 D6RCE2;D6RDA0;H0Y915;H0Y964;Q6PGP7 AB002370;ABBA01069251;ABBA01069252;AC090071;AK307531;AMYH02011820;AMYH02011821;AMYH02011822;BC009767;BC015163;BC030966;BC056893;CH471084;NG_023414;NM_014639 AAH15163;AAH56893;BAA20827;EAW96037;EAW96038;NP_055454;Q6PGP7 Hs.482868 1650772;1678913;1713379;1793022;2176014;5123493;5491804 D5S1943;KIAA0372;PMC186649P1;RH119544;RH35848;SHGC-56463;WI-11864 KIAA0372;MGC32587;Ski3 OTTHUMP00000149977;SKI3 homolog;TPR repeat protein 37;tetratricopeptide repeat protein 37;thespin;tricho-hepatic-enteric syndrome protein APPROVED protein-coding ENSG00000198677 HGNC:23639 11079 222470;614589 REVIEWED 1352742 TTF1 transcription termination factor, RNA polymerase I This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011] 9 9 9 q34.13 105792754 105824048 - 135250935 135282238 - 132375548 132406851 - 1580863;6480464;7240710 10504331;11250901;11532953;12477932;15173172;15231748;15292447;15342556;15489334;16341674;16565220;19464057;19487567;20448178;20471712;20513429;21203907;21716147;21836486;21838611;22085929;22237264;22383580;22460811;22495359;22586326;22940844;23330966;23358112;23525704;23787439;23787483;24014739;24051510;24457236;24778062;7597036;8125298;8889548;9582279 7270 Q15361 ABBA01032487;AK225119;AK302902;AL353701;AMYH02021806;BC050734;BC062692;BC104639;BC127669;BC127670;BC143048;BC143049;BC143821;BM827593;BP209178;BU195816;BU674009;CH471090;NM_001205296;NM_007344;XM_006717273;XM_006717274;XM_006717275;XR_246601 AAH50734;AAH62692;AAI04640;AAI27670;AAI27671;AAI43049;AAI43050;AAI67784;BAG64074;EAW88001;EAW88002;NP_001192225;NP_031370;Q15361;XP_006717336;XP_006717337;XP_006717338 Hs.54780;Hs.732733 1674077;1735886;2218120;5015961 D15S1477;D9S1005E;RH65956;TTF1_3359 TTF-1;TTF-I OTTHUMP00000022432;RNA polymerase I termination factor;transcription termination factor 1;transcription termination factor I APPROVED protein-coding ENSG00000125482 HGNC:12397 02866 118700;600777;610978 REVIEWED 1605708 TTI1 TELO2 interacting protein 1 INVOLVED IN regulation of TOR signaling; FOUND IN cytoplasm; TORC1 complex; TORC2 complex; INTERACTS WITH cobalt dichloride; paracetamol; pentachlorophenol (ortholog) 20 20 20 q11.23 33318467 33368903 - 36611419 36661870 - 37983018 38033468 - 6480464 11780052;12477932;15489334;17081983;17643375;20371770;20427287;20800603;20801936;20810650;21139048;21906983;21963094;22268729;22544753;22863883;23956138;24657168;9455477 9675 O43156 AB007866;ABBA01006636;AK308164;AL109823;AMYH02037055;BC013121;BC013755;BC107778;BC131759;BR000854;CH471077;NM_014657;XM_005260621;XR_244159;XR_244160 AAH13121;AAH13755;AAI07779;AAI31760;BAA23702;EAW76047;EAW76048;EAW76049;EAW76050;FAA00688;NP_055472;O43156;XP_005260678 Hs.655481 1662599;2135128;2137513;2168496 D20S1055;RH48048;SHGC-30761;WIAF-2548 KIAA0406;smg-10 OTTHUMP00000030950;OTTHUMP00000030952;TEL2-interacting protein 1 homolog;TELO2-interacting protein 1 homolog;Tel two interacting protein 1;Tel2 interacting protein 1 homolog;smg-10 homolog, nonsense mediated mRNA decay factor APPROVED protein-coding ENSG00000101407 HGNC:29029 13799 614425 PROVISIONAL 1353603 TTIM1 T-cell tumor invasion and metastasis 1 1298665 1505215 7271 HGNC:12400 147830 1604785 TTI2 TELO2 interacting protein 2 This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013] 8 8 8 p12 32305939 32320408 - 33356027 33370703 - 33498509 33513185 - 6480464;8699517;7240710;8554872 12477932;14702039;15489334;16344560;17643375;19322201;20801936;20810650;21139048;21906983;22505724;23956138;23956177;24654937;24816145 80185 E5RHM7;E5RIH5;Q6NXR4 ABBA01023609;AC091144;AI890434;AK026916;AK308918;AL530920;AMYH02017768;BC007387;BC066935;BX648410;CH471080;CS300619;DA617987;DB047280;DB112682;DB113350;NG_033257;NM_001102401;NM_001265581;NM_025115 AAH07387;AAH66935;ADZ16050;BAB15590;CAK32283;EAW63397;EAW63398;EAW63399;NP_001095871;NP_001252510;NP_079391;Q6NXR4 Hs.742048;Hs.77135 1652276;1674174;5017857 27STS02;G29147;SHGC-32777 C8orf41;FLJ23263;MRT39 OTTHUMP00000225463;OTTHUMP00000225464;OTTHUMP00000225465;OTTHUMP00000225527;TELO2-interacting protein 2;Tel2 interacting protein 2 homolog;hypothetical protein LOC80185;uncharacterized protein C8orf41 APPROVED protein-coding ENSG00000129696 HGNC:26262 13390 614426;615541 REVIEWED 1601809 TTC9C tetratricopeptide repeat domain 9C INTERACTS WITH (-)-demecolcine; 2-methylcholine; copper(2+) sulfate 11 11 11 q12.3 59824556 59834712 + 62495545 62506110 + 62728074 62738638 + 6480464 12477932;19165527;19738201;19875381;20473970;21139048;21906983;21963094;21987572;22505724;22623428;22939629;24816145;25036637 283237 E7EST3;E9PKV8;H0YDR3;Q8N5M4 ABBA01003241;ABBA01003242;AF289605;AF451992;AF451993;AMYH02024897;AP001160;BC032123;BC053665;CH471076;NM_173810;XM_005273930;XM_005273931;XR_247197 AAH32123;AAH53665;AAL55789;AAP97691;AAP97692;ADR82671;EAW74086;EAW74087;NP_776171;Q8N5M4;XP_005273987;XP_005273988 Hs.31704 2176727;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;WI-15000 MGC29649 OTTHUMP00000236333;OTTHUMP00000236334;TPR repeat protein 9C;tetratricopeptide repeat protein 9C protein-coding ENSG00000162222 HGNC:28432 14530 PROVISIONAL 1317152 TTC8 tetratricopeptide repeat domain 8 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 14 14 14 q31.3 69339325 69392681 + 89290574 89344335 + 88824153 88877996 + 1624198;1580863;6480464;7240710;8699517;8554872 14520415 12477932;14702039;15489334;16327777;17574030;19077438;19402160;20301537;20301590;20301743;20451172;20801516;21890473;21906983;21963094;23251661;8889548 123016 B3KSL8;G3V2W6;G3V2Z9;G3V324;H0YJQ3;H0YJX0;Q86U25;Q8TAM2 ABBA01030523;ABBA01030524;AF086168;AK093891;AK124675;AK296077;AK315772;AL121768;AL133238;AL833901;AMYH02029702;AMYH02029703;AY366523;AY366524;AY373972;BC001563;BC026351;BC095433;BG330023;BU738965;BX161472;BX247959;BX248071;BX248248;BX537546;CH471061;NG_008126;NM_001288781;NM_001288782;NM_001288783;NM_144596;NM_198309;NM_198310;XM_006720035;XM_006720036;XM_006720037 AAH01563;AAH26351;AAH95433;AAR02192;AAR02193;AAR19043;BAG52780;BAG54067;BAG58833;CAD38757;CAD61928;CAD62299;CAD62360;CAD62576;EAW81395;EAW81396;EAW81397;EAW81398;EAW81399;EAW81400;EAW81401;EAW81402;NP_001275710;NP_001275711;NP_001275712;NP_653197;NP_938051;NP_938052;Q8TAM2;XP_006720098;XP_006720099;XP_006720100 Hs.303055 1711364;1779157;1789230;2134048 G65613;SHGC-30768;SHGC-80923;WI-22228 BBS8;RP51 Bardet-Biedl syndrome type 8;OTTHUMP00000244652;OTTHUMP00000244653;OTTHUMP00000244654;OTTHUMP00000244656;OTTHUMP00000244659;TPR repeat protein 8;bardet-Biedl syndrome 8 protein;tetratricopeptide repeat protein 8 APPROVED protein-coding ENSG00000165533 HGNC:20087 209900;608132;613464 REVIEWED 732112 TTL tubulin tyrosine ligase TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008] 2 2 2 q13 106625279 106675764 + 113239743 113290223 + 112482166 112532646 + 6480464;8554872 11431336;12477932;14571137;15146197;15489334;19322201;20468071;8093886;8889549 150465 Q8NG68 AA099055;AB071393;ABBA01074257;ABBA01074258;AC012442;AK026673;AK126378;AK126549;AMYH02004588;AMYH02004589;AMYH02004590;AMYH02004591;BC036331;BC036707;BC036819;BC046913;BX538316;BX647135;BX649144;CH471217;CN361230;NM_153712;XM_005263599 AAH36819;AAX81998;ABM85001;BAC06832;CAD98091;EAW73589;NP_714923;Q8NG68;XP_005263656 Hs.358997 1342323;1678503;1678993;1688054;1849575;1849577;2135562;2140495;2157811;2163854;5015615;5015661;5015861;5020423;5020971;5022637;5115198;5118342;5118412;5118686 A001Z19;A006E06;D10S16;D11S1053;D11S2442;D11S2766;D11S3076;D11S3206;D11S3270;D11S3553;D3S3184;D5S411;G20738;HSC189_(GAP_286);RH11534;RH15646;RH16637;RH36646;SHGC-2336;WI-21462 MGC46235 2410003M22Rik;OTTHUMP00000161991;tubulin--tyrosine ligase;tubulin-tyrosine ligase APPROVED protein-coding HGNC:21586 12206 608291 VALIDATED 1313655 TTK TTK protein kinase This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 6 6 6 q14.1 81132293 81170226 + 80714322 80752244 + 80004605 80042527 + 1580863;6480464;6907045;8554872 10366450;11799066;11927556;12351790;12477932;12686615;14657364;14702039;15304323;15618221;16080195;16344560;1639825;16446370;16864798;17210994;17268814;17388661;17439397;17452325;17573779;17728254;17784873;17804818;17981789;17998396;18071315;18083840;18243099;18452554;18480048;18541701;18680479;18794806;18923149;19015317;19018011;19120698;19151762;19273613;19274768;19332559;19459850;19530738;1956325;19946888;20057968;20100468;20360068;20422024;20508983;20624898;20624899;20624901;20624902;20729194;20861309;20884615;20937696;20980622;21139048;21163887;21402910;21475725;21533207;21587233;21778823;21832049;21890473;21900206;21906983;22045814;22430208;22505724;22660415;22732840;22935710;22939629;23067341;23321637;23383273;23388454;23510141;23531678;23569217;23700430;23726842;23933817;24108125;24151075;24187132;24764296;24934155;7678926;7737118;9311822 7272 D6REX1;D6RF82;D6RFY1;D6RIC6;P33981 ABBA01040421;AK095599;AK292460;AK315696;AL133475;AMYH02013980;AU154042;AX775733;BC000633;BC032858;CH471051;DA853919;GM619913;JA807018;JA807081;JA885921;JA886355;JA886789;JA887223;JB234920;JB243620;JB254235;JB257208;JB264129;JB276749;JB311560;JB313850;JB318844;JB359909;JB819644;JB820078;NM_001166691;NM_003318;X70500 AAH00633;AAH32858;ABM82886;ABM86076;BAF85149;BAG38059;CAA49912;CAE11566;CAV33297;CCO75436;CCO75438;CCQ77693;CCQ77702;CCQ77711;CCQ77720;CDH48199;CDH61621;CDH61675;CDH61694;CDH88992;CDH92530;CDH92544;CDH92555;CDH92802;CDH92899;CDI44674;CDI44683;EAW48699;EAW48700;NP_001160163;NP_003309;P33981 Hs.169840 1684296;2107725;2123629 D6S2407;RH1535;TTK_7894 CT96;ESK;FLJ38280;MPH1;MPS1;MPS1L1;PYT OTTHUMP00000016777;OTTHUMP00000016778;OTTHUMP00000220743;cancer/testis antigen 96;dual specificity protein kinase TTK;monopolar spindle 1 kinase;monopolar spindle 1-like 1;phosphotyrosine picked threonine kinase;phosphotyrosine picked threonine-protein kinase APPROVED protein-coding ENSG00000112742 HGNC:12401 04973 604092 REVIEWED 1319289 TTLL1 tubulin tyrosine ligase-like family, member 1 ENCODES a protein that exhibits tubulin-glutamic acid ligase activity (inferred); INVOLVED IN axoneme assembly (inferred); epithelial cilium movement (inferred); protein polyglutamylation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; paracetamol 22 22 22 q13.1 27346102 27395837 - 43435522 43485434 - 43039516 43089428 - 1580863;6480464;8554872 10591208;11054573;11230166;12477932;12529303;14702039;15461802;15489334;15890843;16344560;19767753;20379614;20564319;8724849 25809 O95922 ABBA01017909;ABBA01017910;ABBA01017911;ABBA01017912;AF104927;AF173935;AI369631;AK095996;AK315658;AL022237;AL022476;AL096883;AL096886;AL136687;AL589867;AMYH02038471;BC009058;BC014968;BF433080;BG911167;CH471138;CR456599;DA247656;NM_012263;NR_027779;XM_006724225 AAF91088;AAG29879;AAH14968;ABM83124;ABM86319;BAG38024;BAG53193;CAB51423;CAB51469;CAB66622;CAC34478;CAG30485;CAK54630;CAK54929;EAW73279;EAW73280;EAW73281;NP_036395;O95922;XP_006724288 Hs.660298 2137363 D22S649 C22orf7;HS323M22B;PGs3 OTTHUMP00000198278;OTTHUMP00000203022;catalytic subunit of neural tubulin polyglutamylase;probable tubulin polyglutamylase TTLL1;tubulin polyglutamylase complex subunit 3;tubulin--tyrosine ligase-like protein 1;tubulin-tyrosine ligase protein-coding ENSG00000100271 HGNC:1312 10604 608955 VALIDATED 1602419 TTLL10 tubulin tyrosine ligase-like family, member 10 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol; aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 1 1 1 p36.33 1449545 1473572 - 1109286 1133315 + 1173906 1197935 + 6480464;8554872 12477932;14702039;15890843;18029348;18331838;19524510 254173 J3QRK8;Q6ZVT0 ABBA01016022;AK093438;AK124125;AL162741;AL390719;AMYH02000082;AMYH02000083;BC027945;BC126152;BC126154;BX117374;CH471183;NM_001130045;NM_153254;XM_005244737;XM_005244738;XM_006710547;XM_006710548;XM_006710549;XR_426596 AAI26153;AAI26155;BAC04164;BAC85781;EAW56285;EAW56286;NP_001123517;NP_694986;Q6ZVT0;XP_005244794;XP_005244795;XP_006710610;XP_006710611;XP_006710612 Hs.454835 1738293 D1S63 FLJ36119;FLJ42131;RP5-902P8.1;TTLL5 OTTHUMP00000000973;OTTHUMP00000000974;inactive polyglycylase TTLL10;tubulin tyrosine ligase-like family, member 5;tubulin--tyrosine ligase-like protein 10 protein-coding ENSG00000162571 HGNC:26693 08771 VALIDATED 1322671 TTLL11 tubulin tyrosine ligase-like family, member 11 ENCODES a protein that exhibits ligase activity (inferred); INVOLVED IN cellular protein modification process (inferred); microtubule severing (inferred); protein polyglutamylation (inferred); FOUND IN cilium (inferred); cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; cyclosporin A; valproic acid 9 9 9 q33.2 95232653 95504178 - 124577953 124855885 - 121815674 122093606 - 6480464 10737800;12477932;14702039;15164053;15890843;20379614;20467438;20583170;22699663 158135 B1AP70;F8W6M1;Q6ZUZ3;Q8NHH1 ABBA01000329;ABBA01000330;ABBA01000331;ABBA01043706;ABBA01043707;ABBA01043708;AF521886;AF521887;AK055126;AK123875;AK125178;AL162423;AL442634;AL445587;AL596244;AMYH02021583;AMYH02021584;AMYH02021585;BC040664;BC089452;BC171751;CH471090;CV357789;HG502398;NM_001139442;NM_194252;XM_005251728;XM_005251729;XM_006716966;XM_006716967;XM_006716968 AAM81328;AAM81329;BAC86073;EAW87505;EAW87506;EAW87507;EAW87508;EAW87509;NP_001132914;NP_919228;Q8NHH1;XP_005251785;XP_005251786;XP_006717029;XP_006717030;XP_006717031 Hs.438937;Hs.640663 1647723;1658451;1676882;1752455;1758135;1758669;1765305;1771412;2128585;2147397 D9S1047E;D9S2155;FB24A12;G09327;RH78203;RH99098;SHGC-106344;SHGC-147496;SHGC-148799;SHGC-149117 C9orf20;RP11-244O19.1;RP11-429D3.1;bA244O19.1 OTTHUMP00000022031;OTTHUMP00000022032;chromosome 9 open reading frame 20;tubulin polyglutamylase TTLL11;tubulin--tyrosine ligase-like protein 11 protein-coding ENSG00000175764 HGNC:18113 10047 VALIDATED 1604421 TTLL13 tubulin tyrosine ligase-like family, member 13 ENCODES a protein that exhibits ligase activity (inferred); INVOLVED IN cellular protein modification process (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); all-trans-retinoic acid (ortholog); titanium dioxide (ortholog) 15 15 15 q26.1 67197100 67206662 + 90792764 90808709 + 90249532 90259088 + 6480464 12477932;15890843 440307 A6NNM8 ABBA01053049;AC091167;AK127965;AMYH02031037;BC036668;BC144453;CH471101;NR_104604 A6NNM8;AAI60183;BAG54607;EAX02094;EAX02095 Hs.632164 1342154 D15S522 FLJ46079;MGC33417 tubulin polyglutamylase TTLL13;tubulin--tyrosine ligase-like protein 13 pseudo ENSG00000213471 HGNC:32484 VALIDATED 1604381 TTLL12 tubulin tyrosine ligase-like family, member 12 INVOLVED IN cellular protein modification process (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 22 22 22 q13.31 27473015 27493525 - 43562628 43583137 - 43166622 43187131 - 6480464 10591208;12477932;15461802;15489334;15890843;16196087;16449650;18781797;19471022;19738201;20162578;20360068;21139048;21252943;21890473;21906983;21963094;21988832;22053931;22505724;22586326;22623428;22863883;22939629;23166591;23251473;23918034;24250222;24654937;25027693;8590280 23170 Q14166;V9GY16 ABBA01017907;AK123789;AK304464;AL590888;AMYH02038471;BC001070;BE785973;BX411143;CH471138;CT841516;D63487;NM_015140;Z82214 AAH01070;BAA09774;BAG65280;CAC37415;CAJ86446;EAW73291;EAW73292;NP_055955;Q14166 Hs.517670 1757261;2128161 RH25372;SHGC-144679 FLJ41795;KIAA0153;dJ526I14.2 OTTHUMP00000198234;OTTHUMP00000198249;tubulin--tyrosine ligase-like protein 12 protein-coding ENSG00000100304 HGNC:28974 13782 VALIDATED 1313087 TTLL2 tubulin tyrosine ligase-like family, member 2 ENCODES a protein that exhibits ligase activity (inferred); INVOLVED IN cellular protein modification process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cefaloridine (ortholog) 6 6 6 q27 168481306 168498910 + 167738574 167756177 + 167325086 167342689 + 1580863;6480464;8554872 11054573;12477932;14702039;23382691;8125298 83887 D6R9R4;Q9BWV7 ABBA01033432;AK093039;AK098527;AK225984;AK301755;AK314450;AL021331;AMYH02014979;AY026506;BC030650;BC047411;CH471051;HC007366;HC044589;NM_031949;XM_006715572 AAH30650;AAH47411;AAK20169;ADZ15631;BAG37058;BAG52639;BAG63216;CBH19488;CBH30624;EAW47498;NP_114155;Q9BWV7;XP_006715635 Hs.520554 1685634;1711280 RH91835;SHGC-89287 C6orf104;NYD-TSPG;dJ366N23.3 OTTHUMP00000017625;OTTHUMP00000220506;probable tubulin polyglutamylase TTLL2;testis-specific protein NYD-TSPG;tubulin--tyrosine ligase-like protein 2 protein-coding HGNC:21211 18240 VALIDATED 4139976 TTC39DP tetratricopeptide repeat domain 39D, pseudogene INTERACTS WITH lead diacetate (ortholog) 2 2 2 p22.1 38831776 38833391 + 38990727 38992342 + 38763585 38765200 + 6480464 646640 ABBA01075018;AC018693;AC074366;AC092833;AMYH02003631;NG_021561 pseudo HGNC:35451 INFERRED 1322614 TTLL3 tubulin tyrosine ligase-like family, member 3 ENCODES a protein that exhibits protein-glycine ligase activity; protein-glycine ligase activity, initiating (ortholog); INVOLVED IN protein polyglycylation; axoneme assembly (ortholog); cilium assembly (ortholog); FOUND IN axoneme (ortholog); cilium (ortholog); microtubule cytoskeleton (ortholog); INTERACTS WITH amiodarone; copper atom; copper(0) 3 3 3 p25.3 9786607 9813341 + 9851632 9878040 + 9809960 9836356 + 1580863;6480464 11054573;12477932;14702039;15342556;16344560;19524510;21988832;8889548 26140 C9IZU0;C9JKU2;C9JNK2;C9JNK7;C9JQ30;C9JRM2;C9JSD3;C9JUK0;C9JW59;C9JWZ9;C9JZ73;E5RGZ6;F8WBP6;F8WD18;H0Y5E3;H3BLT7;H7C0T5;H7C197;J3KQB2;Q9Y4R7;R4GMR7;R4GMW2;R4GN12 AA742169;ABBA01020398;ABBA01020399;AC018809;AC022382;AF078842;AK023960;AK097236;AK125875;AK297289;AK315140;AL096725;AL833939;AMYH02006236;AMYH02006237;BC009479;BC028169;BC098298;BC098361;BC099735;BC105638;BM674442;BM717061;BP357921;BX440835;CB854808;DA267460;NM_001025930;NR_037162 AAF23353;AAH98298;AAH98361;AAH99735;AAI05639;BAB14741;BAG37589;BAG59759;CAB46375;CAD38794;NP_001021100;Q9Y4R7 Hs.726435 1778680;1855946;2110003;2180457;5015619;5022200;5037552 D11S3114;D8S2279;L18426;RH17932;RH47393;SHGC-33325;TTLL3_9463 DKFZp434B103;DKFZp686D076;FLJ13898;HOTTL;MGC120529;MGC120530;MGC120532 OTTHUMP00000165250;tubulin monoglycylase TTLL3;tubulin--tyrosine ligase-like protein 3 protein-coding HGNC:24483 15585 VALIDATED 1315312 TTLL4 tubulin tyrosine ligase-like family, member 4 ENCODES a protein that exhibits tubulin binding (ortholog); INVOLVED IN protein polyglutamylation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cilium (inferred); cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH benzene-1,2,4-triol; cobalt dichloride; copper(2+) sulfate 2 2 2 p24.3-p24.1 213343326 213387891 + 219575558 219620139 + 218710835 218755416 + 1580863;6480464;8554872 11054573;12477932;15489334;16344560;21890473;22959728;8724849 9654 C9J3I1;C9J982;C9JB60;E7EX20;E9PH58;H7BZY4;H7C1F7;H7C2S3;H7C421;H7C470;Q14679 ABBA01023858;AC009974;AK291770;AK296054;AK302728;AL833511;AMYH02005806;BC021707;CH471063;D79995;DB097392;JB748195;NM_014640;XM_005246977;XM_005246978;XM_006712873;XM_006712874;XM_006712875;XM_006712876 AAH21707;BAA11490;BAF84459;BAG58817;BAG63947;CDI30214;EAW70651;EAW70652;NP_055455;Q14679;XP_005247034;XP_005247035;XP_006712936;XP_006712937;XP_006712938;XP_006712939 Hs.471405 1684884;1767421 RH12664;RH25389 KIAA0173 OTTHUMP00000164099;OTTHUMP00000206425;OTTHUMP00000206426;tubulin polyglutamylase TTLL4;tubulin--tyrosine ligase-like protein 4 protein-coding ENSG00000135912 HGNC:28976 15586 VALIDATED 1605943 TTLL7 tubulin tyrosine ligase-like family, member 7 ENCODES a protein that exhibits ligase activity (inferred); INVOLVED IN cell differentiation (inferred); cellular protein modification process (inferred); nervous system development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cilium (inferred); cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH all-trans-retinoic acid; arsenous acid; cobalt atom 1 1 1 p31.1 82585810 82715708 - 84335057 84464850 - 83869374 83999167 - 6480464;8554872 12477932;14702039;15489334;15890843;16710414;20061627;21145461;21832049;23006423;23251661;8125298 79739 F2Z2J7;F2Z2X2;Q6ZT98 ABBA01045660;AC104454;AK026686;AK094174;AK126792;AK128604;AK225574;AL138844;AMYH02001371;AY170843;BC028350;BC032829;BC048970;BC060878;BG718305;CH471097;KC876883;KC876899;KF454977;KF454979;KF454980;NM_024686;XM_005271208;XM_005271209;XM_005271210;XM_005271211;XM_006710903;XR_246294 AAH28350;AAH48970;AAH60878;AAO37763;ADZ15578;BAB15526;BAC86695;BAC87524;EAW73251;EAW73252;NP_078962;Q6ZT98;XP_005271265;XP_005271266;XP_005271267;XP_005271268;XP_006710966 Hs.445826 1659449;1689584;1696712;1764569;2155204;5014051;5015619;5037552;5091071 D11S3114;D8S2278;D8S2279;G33190;RH93382;SHGC-148159;SHGC-30721;SHGC-56388;SHGC-83067 FLJ23033;FLJ36855;RP5-836J3.2 OTTHUMP00000011579;OTTHUMP00000011581;testis development protein NYD-SP30;tubulin polyglutamylase TTLL7;tubulin--tyrosine ligase-like protein 7 protein-coding HGNC:26242 08013 VALIDATED 6481026 TTLL7-IT1 TTLL7 intronic transcript 1 (non-protein coding) p31.1 12477932 100874314 AC104454;BC042527 Hs.687028 ncrna HGNC:41486 2290198 TTLL8 tubulin tyrosine ligase-like family, member 8 ENCODES a protein that exhibits protein-glycine ligase activity (ortholog); protein-glycine ligase activity, initiating (ortholog); INVOLVED IN protein polyglycylation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN axoneme (ortholog); cilium (ortholog); microtubule cytoskeleton (ortholog); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); choline (ortholog); folic acid (ortholog) 22 22 22 q13.33 34329184 34368139 - 50466026 50496636 - 50027597 50058207 - 6480464;8554872 15890843;18854154 164714 A6PVC2 ABBA01011368;AL022327;XM_003403494;XM_003403745 A6PVC2;XP_003403542;XP_003403793 1738477 D22S1056 OTTHUMP00000196723;protein monoglycylase TTLL8;tubulin--tyrosine ligase-like protein 8 protein-coding HGNC:34000 MODEL 1350630 TTLL5 tubulin tyrosine ligase-like family, member 5 This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010] 14 14 14 q24.3 56165656 56459559 + 76127551 76421425 + 75661208 75955082 + 6480464;8554872 10231032;10737800;12477932;12508121;14702039;15890843;16169070;16344560;17081983;17116691;18045879;19416867;19850743;20308539;20374646;20546900;20967262;21139048;21998595;24250222;24262325;24791901 23093 G3V2J9;G3V4R8;Q2TAY9;Q6EMB2 AB023215;ABBA01030690;ABBA01030691;ABBA01030692;ABBA01030693;ABBA01030694;ABBA01030695;ABBA01030696;ABBA01030697;AC007182;AC009399;AF107885;AK021879;AK024259;AK309748;AL133586;AL136808;AL137329;AMYH02029541;AMYH02029542;AMYH02029543;AY237126;BC016625;BC110652;BC136472;BC136473;BX647530;CR533554;DA195275;GD137472;NG_016974;NM_015072 AAC79729;AAC79730;AAF23275;AAH16625;AAI10653;AAI36473;AAI36474;AAP75557;BAA76842;BAB14862;CAB63729;CAB66742;CAG38585;NP_055887;Q6EMB2 Hs.709609 1334545;1650700;1693786;1695480;1701164;1730775;1740637;1754649;1757197;1769399;1783152;2119710;2138432;2146114;2191491;5022450;5037552;7186057 D10S275;D14S101E;D14S1266;D14S61;D8S2279;G35922;G36179;MARC_23958-23959:1031924164:1;RH104210;RH45771;RH68902;SHGC-133005;SHGC-144613;SHGC-58923;SHGC-68622;SHGC-85765;WI-12476 CORD19;KIAA0998;MGC117189;STAMP OTTHUMP00000246600;OTTHUMP00000246602;SRC1 and TIF2 associated binding protein;SRC1 and TIF2-associated modulatory protein;tubulin polyglutamylase TTLL5 APPROVED protein-coding ENSG00000119685 HGNC:19963 08309 612268;615860 REVIEWED 6766821 TTN-AS1 TTN antisense RNA 1 ASSOCIATED WITH Cardiomyopathy, Dilated (inferred); Cardiomyopathy, Hypertrophic, Familial (inferred); Distal Myopathies (inferred) 2 2 179387554 179484944 + 178522827 178620217 + 8554872 12477932;14702039;16344560 100506866 ABBA01062246;ABBA01062247;AC009948;AC010680;AK093733;AK094031;AMYH02005327;BC041357;BC070113;DB229458;FJ695199;HG494957;HG494963;HG494964;HG494965;HG494969;HG494970;HG494971;HG494981;HG494983;HG494984;HG494985;HG494986;HG494987;HG494988;HG494989;HG494993;HG494997;LK937796;LK937797;NR_038271;NR_038272 Hs.710694 1644257;1663008;1679229;1734752;1734762;1734770;1734774;1734786;1734792;1734798;1734802;1734804;1734806;1734820;1734840;1849420;1857542;2127605;2167790;2185744 D2S1519E;D2S1540E;D2S1546E;D2S1550E;D2S1553E;D2S1560E;D2S1564E;D2S1568E;D2S1570E;D2S1571E;D2S1572E;D2S1580E;D2S1593E;D2S2648;RH48674;RH65575;RH65621;RH65766;RH78892;RH98821 AC009948.3 APPROVED ncrna ENSG00000237298 HGNC:44124 VALIDATED 731914 TTPA tocopherol (alpha) transfer protein This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009] 8 8 8 q12.3 59962246 59988643 - 63972047 63998612 - 63059488 63086098 - 1600430;1600432;1600436;1580863;6480464;7240710;8554872;8699517 12448818;7719340;9178827 12470185;12477932;12899840;14657365;15065857;15190938;15300460;15489334;16226712;16819822;17207965;18458085;18511174;18984846;19102053;19190344;19458973;20301317;20301419;20801516;20826775;21110980;21832049;22752767;23079030;23599266;7566022;7887897;8252047;8602747;8965888;9463307;9931538 7274 P49638 ABBA01041833;AC120042;AMYH02018069;BC041784;BC058000;CH471068;D49488;NG_016123;NM_000370;U21938;XM_006716468 AAA64309;AAH58000;ADQ32097;BAA08449;EAW86863;NP_000361;P49638;XP_006716531 Hs.69049 2138174 SHGC-35358 ATTP;AVED;TTP1;alphaTTP OTTHUMP00000226543;alpha-TTP;alpha-tocopherol transfer protein;tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) APPROVED protein-coding ENSG00000137561 HGNC:12404 02685 277460;600415 REVIEWED 1346232 TTTY1 testis-specific transcript, Y-linked 1 (non-protein coding) Y Y Y p11.2 2928162 2949295 - 9590765 9611898 - 9753156 9774289 - 12815422;12815542;9381176;9847074 50858 AC017019;NR_001538 Hs.584729 1750777;2135798;2188837 G34978;G65847;SHGC-102520 LINC00033;NCRNA00033;TTY1 ncrna ENSG00000129845 HGNC:14022 PROVISIONAL 1344684 TTTY10 testis-specific transcript, Y-linked 10 (non-protein coding) Y Y Y q11.221 7335010 7388063 - 22627554 22681114 - 20465668 20519228 - 12815422 246119 Q9BZA0 ABBA01057441;ABBA01057442;ABBA01057443;ABBA01057444;ABBA01057445;ABBA01057446;ABBA01057447;ABBA01057448;ABBA01057449;AC011745;HG512865;NR_001542 Hs.461175 2178950;2188721;2188735;2188737 DYS392;G66563;G66570;G66571 NCRNA00133;TTY10 ncrna ENSG00000229236 HGNC:18491 PROVISIONAL 1345675 TTLL9 tubulin tyrosine ligase-like family, member 9 ENCODES a protein that exhibits ligase activity (inferred); INVOLVED IN cellular protein modification process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cilium (inferred); cytoplasm (inferred); microtubule (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); dibutyl phthalate (ortholog); fipronil (ortholog) 20 20 20 q11.21 27214847 27287214 + 30458440 30532770 + 31870702 31944967 + 6480464;8554872 12477932;14702039;15890843;24250222 164395 B4DZ96;H9KV73;Q3SXZ7 ABBA01019287;ABBA01019288;AK090839;AK093491;AK123328;AK302360;AK302806;AK303963;AL031658;AL160175;AL161969;AL359765;AMYH02036907;AMYH02036908;AMYH02036909;AMYH02036910;BC036213;BC068593;BC104024;BC104025;CH471077;NM_001008409;XM_005260309;XM_006723716;XM_006723717;XM_006723718;XM_006723719;XM_006723720;XM_006723721;XM_006723722;XM_006723723;XM_006723724;XM_006723725;XM_006723726 AAI04025;AAI04026;BAG52730;BAG63685;BAG64008;BAG64887;EAW76401;EAW76402;EAW76403;EAW76404;EAW76405;EAW76406;EAW76407;EAW76408;NP_001008409;Q3SXZ7;XP_005260366;XP_006723779;XP_006723780;XP_006723781;XP_006723782;XP_006723783;XP_006723784;XP_006723785;XP_006723786;XP_006723787;XP_006723788;XP_006723789 Hs.712915 1338483;1758877;2154128;2156583 D20S111;D20S425;SHGC-3398;WI-13573 C20orf125;MGC120486;MGC120487;dJ310O13.1 chromosome 20 open reading frame 125;probable tubulin polyglutamylase TTLL9;tubulin--tyrosine ligase-like protein 9 protein-coding ENSG00000131044 HGNC:16118 16638 PROVISIONAL 1319323 TTF2 transcription termination factor, RNA polymerase II This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008] 1 1 1 p22 115831559 115874100 + 117602910 117645492 + 117060288 117102910 + 6480464;7240710 10455150;12165566;12477932;12927788;15125840;15231748;15320969;15467445;15489334;16710414;17577209;18029348;1916263;19343720;19505873;20211142;21139048;21890473;21906983;21963094;21987572;21988832;22505724;22797925;22939629;23000965;23110726;23752268;24255178;24816145;9748214 8458 Q59EG6;Q9UNY4;X6RI15 AB209845;ABBA01068498;ABBA01068499;AF073771;AF080255;AI991355;AK291017;AL139248;AL391476;AL445231;AMYH02001796;AW027795;BC015341;BC030058;BI857056;BQ422564;BU182600;CH471122;H81916;NM_003594;XM_005271277;XM_006710979;XM_006710980;XM_006710981 AAC64044;AAD49435;AAH30058;BAD93082;BAF83706;EAW56666;EAW56667;NP_003585;Q9UNY4;XP_005271334;XP_006711042;XP_006711043;XP_006711044 Hs.486818 1657596;1658380;1693570;1736896;2160922;2218122;5014051;5020948;5022200;5022578;5022651;5037552;5109362 AL009804;D11S2921;D17S1239;D1S1423;D1S2207;D8S2278;D8S2279;G16253;G35510;L18426;SHGC-36321;SHGC-58477;TTF2_3489 F2;HuF2;ZGRF6 OTTHUMP00000013818;RNA polymerase II termination factor;human factor 2;lodestar homolog;lodestar protein;transcription release factor 2;transcription termination factor 2;zinc finger, GRF-type containing 6 APPROVED protein-coding HGNC:12398 05280 241850;604718 REVIEWED 1605245 TTLL6 tubulin tyrosine ligase-like family, member 6 ENCODES a protein that exhibits tubulin binding (ortholog); INVOLVED IN protein polyglutamylation (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN ciliary basal body; INTERACTS WITH trichostatin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); all-trans-retinoic acid (ortholog) 17 17 17 q21.32 43293738 43348592 - 46839593 46894469 - 48757381 48817223 - 6480464;8554872 12477932;14702039;15890843;16443334;21832049;24280982 284076 F6QD81;F8W896;F8W9N0;F8WDP8;Q8N841 ABBA01041174;ABBA01041175;ABBA01244693;AC068531;AK093127;AK097392;AK302952;AK310321;AL834151;AMYH02033545;AY898275;AY898276;AY898277;AY898278;AY898279;AY898280;AY898281;AY898282;AY898283;AY898284;AY898285;AY898286;AY898287;AY898288;AY898289;AY898290;AY898291;AY898292;AY898293;AY898294;AY898295;AY898296;AY898297;AY898298;AY898299;AY898300;AY898301;AY898302;AY898303;AY898304;AY898305;AY898306;AY898307;AY898308;AY898309;AY898359;AY898360;AY898361;AY898362;AY898363;AY898364;AY898365;AY898366;AY898367;AY898368;AY898369;AY898370;AY898371;AY898372;AY898373;AY898374;AY898375;AY898376;AY898377;AY898378;AY898379;AY898380;AY898381;AY898382;AY898383;AY898384;AY898385;AY898386;AY898387;AY898388;AY898389;AY898390;AY898391;AY898392;AY898393;AY898401;AY898402;AY898403;AY898404;AY898405;AY898406;AY898407;AY898408;AY898409;AY898410;AY898411;AY898412;AY898413;AY898414;AY898415;AY898416;AY898417;AY898418;AY898419;AY898420;AY898421;AY898422;AY898423;AY898424;AY898425;AY898426;AY898427;AY898428;AY898429;AY898430;AY898431;AY898432;AY898433;AY898434;AY898435;AY898443;AY898444;AY898445;AY898446;AY898447;AY898448;AY898449;AY898450;AY898451;AY898452;AY898453;AY898454;AY898455;AY898456;AY898457;AY898458;AY898459;AY898460;AY898461;AY898462;AY898463;AY898464;AY898465;AY898466;AY898467;AY898468;AY898469;AY898470;AY898471;AY898472;AY898473;AY898474;AY898475;AY898476;AY898477;AY898485;AY898486;AY898487;AY898488;AY898489;AY898490;AY898491;AY898492;AY898493;AY898494;AY898495;AY898496;AY898497;AY898498;AY898499;AY898500;AY898501;AY898502;AY898503;AY898504;AY898505;AY898506;AY898507;AY898508;AY898509;AY898510;AY898511;AY898512;AY898513;AY898514;AY898515;AY898516;AY898517;AY898518;AY898519;AY898527;AY898528;AY898529;AY898530;AY898531;AY898532;AY898533;AY898534;AY898535;AY898536;AY898537;AY898538;AY898539;AY898540;AY898541;AY898542;AY898543;AY898544;AY898545;AY898546;AY898547;AY898548;AY898549;AY898550;AY898551;AY898552;AY898553;AY898554;AY898555;AY898556;AY898557;AY898558;AY898559;AY898560;AY898561;AY898569;AY898570;AY898571;AY898572;AY898573;AY898574;AY898575;AY898576;AY898577;AY898578;AY898579;AY898580;AY898581;AY898582;AY898583;AY898584;AY898585;AY898586;AY898587;AY898588;AY898589;AY898590;AY898591;AY898592;AY898593;AY898594;AY898595;AY898596;AY898597;AY898598;AY898599;AY898600;AY898601;AY898602;AY898603;BC033563;BC041368;CH471109;NM_001130918;NM_173623;XM_006721827;XM_006721828;XM_006721829;XM_006721830 AAH33563;AAX86214;AAX86215;AAX86216;AAX86217;AAX86218;AAX86219;AAX86220;AAX86221;AAX86222;AAX86223;AAX86224;AAX86225;AAX86226;AAX86227;AAX86228;AAX86229;AAX86230;AAX86231;AAX86232;AAX86233;AAX86234;AAX86235;AAX86236;AAX86237;AAX86238;AAX86239;AAX86240;AAX86241;AAX86242;AAX86243;AAX86244;AAX86245;AAX86246;AAX86247;AAX86248;AAX86256;AAX86257;AAX86258;AAX86259;AAX86260;AAX86261;AAX86262;AAX86263;AAX86264;AAX86265;AAX86266;AAX86267;AAX86268;AAX86269;AAX86270;AAX86271;AAX86272;AAX86273;AAX86274;AAX86275;AAX86276;AAX86277;AAX86278;AAX86279;AAX86280;AAX86281;AAX86282;AAX86283;AAX86284;AAX86285;AAX86286;AAX86287;AAX86288;AAX86289;AAX86290;AAX86298;AAX86299;AAX86300;AAX86301;AAX86302;AAX86303;AAX86304;AAX86305;AAX86306;AAX86307;AAX86308;AAX86309;AAX86310;AAX86311;AAX86312;AAX86313;AAX86314;AAX86315;AAX86316;AAX86317;AAX86318;AAX86319;AAX86320;AAX86321;AAX86322;AAX86323;AAX86324;AAX86325;AAX86326;AAX86327;AAX86328;AAX86329;AAX86330;AAX86331;AAX86332;AAX86340;AAX86341;AAX86342;AAX86343;AAX86344;AAX86345;AAX86346;AAX86347;AAX86348;AAX86349;AAX86350;AAX86351;AAX86352;AAX86353;AAX86354;AAX86355;AAX86356;AAX86357;AAX86358;AAX86359;AAX86360;AAX86361;AAX86362;AAX86363;AAX86364;AAX86365;AAX86366;AAX86367;AAX86368;AAX86369;AAX86370;AAX86371;AAX86372;AAX86373;AAX86374;AAX86382;AAX86383;AAX86384;AAX86385;AAX86386;AAX86387;AAX86388;AAX86389;AAX86390;AAX86391;AAX86392;AAX86393;AAX86394;AAX86395;AAX86396;AAX86397;AAX86398;AAX86399;AAX86400;AAX86401;AAX86402;AAX86403;AAX86404;AAX86405;AAX86406;AAX86407;AAX86408;AAX86409;AAX86410;AAX86411;AAX86412;AAX86413;AAX86414;AAX86415;AAX86416;AAX86424;AAX86425;AAX86426;AAX86427;AAX86428;AAX86429;AAX86430;AAX86431;AAX86432;AAX86433;AAX86434;AAX86435;AAX86436;AAX86437;AAX86438;AAX86439;AAX86440;AAX86441;AAX86442;AAX86443;AAX86444;AAX86445;AAX86446;AAX86447;AAX86448;AAX86449;AAX86450;AAX86451;AAX86452;AAX86453;AAX86454;AAX86455;AAX86456;AAX86457;AAX86458;AAY28091;AAY28092;AAY28093;AAY28094;AAY28095;AAY28096;AAY28097;AAY28098;AAY28099;AAY28100;AAY28101;AAY28102;AAY28103;AAY28104;AAY28105;AAY28106;AAY28107;AAY28108;AAY28109;AAY28110;AAY28111;AAY28112;AAY28113;AAY28114;AAY28115;AAY28116;AAY28117;AAY28118;AAY28119;AAY28120;AAY28121;AAY28122;AAY28123;AAY28124;AAY28125;ADZ15428;BAC04066;BAG64107;CAH56366;EAW94709;EAW94710;EAW94711;EAW94712;EAW94713;NP_001124390;NP_775894;Q8N841;XP_006721890;XP_006721891;XP_006721892;XP_006721893 Hs.91930 1682796;1734438;1762597 D17S1408E;RH98445;SHGC-146395 FLJ35808;TTL.6 OTTHUMP00000211213;OTTHUMP00000211215;tubulin polyglutamylase TTLL6;tubulin--tyrosine ligase-like protein 6 protein-coding ENSG00000170703 HGNC:26664 08763 610849 VALIDATED 737331 TTR transthyretin This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009] 18 18 18 q12.1 25978845 25986103 + 29171730 29178987 + 31591767 31599024 + 1580523;1580525;1580526;1580527;1580528;1331525;1580863;6480464;6484671;6484113;7240710;8554872;8699517 15118671;15469881;15536615;15793844;15995833;16552785;21782034 10052934;10071047;10465115;10529370;10627135;10627502;10671063;10694917;10704770;10742177;10841549;10842705;10845569;10854215;10882995;10982792;11106758;11243784;11418763;11445644;11478875;11577236;11709003;11853533;11913969;11995997;12039669;12082059;12095258;12354101;12403615;12433265;12477932;12481032;12560553;12566023;12593674;12665801;12697331;12771253;12874414;12874858;12876326;12900507;1301926;13367520;1351039;1356051;1362222;1436517;14506715;14507924;14534839;14578606;14604984;14673473;14690414;14718574;14760718;14981241;15033978;15174051;1517749;1520326;1520336;15210129;15214015;1544214;15489334;15610856;15649951;1570831;15736938;15821170;15930086;16011990;1602151;16053476;16076613;16079207;16114899;16130282;16159939;16169070;16185074;16189514;16194875;16199891;16204882;16219761;16225852;1626570;16335952;16386248;16433699;16487493;16502470;1656975;1666289;16690497;16698124;16716307;16716350;16732734;16751065;16751191;16879610;16892178;16893521;17062384;17116243;17143887;17176092;17196219;17203960;1734866;17378745;17431395;17466336;17487420;17503405;17558848;17577688;17630783;17671371;17683281;17683510;17698792;17873539;17957146;17968687;17968690;17980738;18022643;18221012;18237193;18242169;18252270;18257091;18275060;18276611;18326041;18406527;18410945;18448869;18460047;18485534;18579156;18624398;18655780;18662699;1867256;18682810;18688962;1877623;18807501;18825272;18830126;18835560;18925456;18930252;19021760;19118530;19180884;19188365;19250316;1932142;19328595;19361464;19389624;19401362;19410571;19428025;19477408;19493541;19501859;19601795;19602727;19626479;19626480;19664600;19703508;1977686;19781421;1979335;19808383;1981182;19861125;19913121;19922332;19922456;1997217;20132088;20143571;2015890;201845;20211733;20301373;20373457;20388560;20435197;20462367;2046936;20547140;20628086;20646067;20659897;20660862;20697105;20735474;20736409;20840742;20949480;20964562;21056899;21077797;21104416;21135536;21174946;21179560;21179887;21191093;21208750;2122246;21280184;21335655;21358362;21397913;21406045;21420946;21422279;21434877;21439703;21461579;21521316;21537325;21540676;21600538;2161654;21714897;21733562;21739396;2174830;21777382;21821015;21841252;21843040;21878437;21880910;21900206;21945519;21945954;22002789;22027013;22045754;22080762;22091638;22102249;22120741;22169613;22228785;22248451;22264585;22301727;22311483;22362898;22412233;22439750;22579241;22592564;22607976;22670059;22698061;22784244;22795285;22826435;22842046;22844532;22847813;22889670;22928869;22948197;22949539;22968245;22975527;22984597;23079095;23129325;23133543;23185504;2320592;23225005;23225009;23225017;23240369;23244293;23279339;23306657;23319365;23385359;23387326;23414091;23438977;23465306;23523753;23546595;23579071;23580146;2360796;23623341;2363717;23713495;23716704;23734638;23860318;23901247;24030829;24035612;24053266;24113303;24182678;24184229;24390749;24455802;24474780;24528201;24563469;24648510;24661308;24690176;24849358;24945718;25018619;2613237;2693890;2877582;2891727;2990465;2995367;3011930;3022107;3022108;3028932;3135807;3229002;3479441;3675594;3714052;3722385;3760189;3762958;3818577;4044580;4054629;4216640;4328329;4607556;4952599;574085;6087811;6093805;6208668;6300852;6487335;6549130;6583672;6651852;671542;7033114;7417777;7474944;7599630;7754382;7794243;7839813;7850982;7910950;7914929;7923855;7946531;8019560;8038017;8081397;8089102;8095301;8095302;8133316;8218290;8257997;8309582;8352764;8382610;8406434;8428915;8549676;8579098;8692810;8784093;8857732;8960746;8990019;9191784;9307034;9771673;9771681;9789022;9818054;9818883;986177 7276 E9KL36;P02766 ABBA01022510;AC079096;AF162690;AF485253;AF485254;AK312051;AMYH02034510;BC005310;BC020791;BT007189;CA948224;CH471088;CR456908;D00096;DB498675;DQ839490;EU794670;GU727633;K02091;M10605;M11518;M11714;M11844;M15515;M63285;NG_009490;NM_000371;S63185;S72385;S81436;U19780;X59498 AAA36784;AAA60011;AAA60012;AAA60013;AAA60018;AAA61181;AAA73473;AAA98771;AAB36045;AAD14098;AAD14937;AAD45014;AAH05310;AAH20791;AAL92042;AAL92043;AAP35853;ABI63351;ACJ13724;ADU87635;ADZ15764;BAA00059;BAG34987;CAA42087;CAG33189;EAX01264;EAX01265;EAX01266;NP_000362;P02766 Hs.427202 1653254;1684477;1690632;1740905;1740907;1740909;1741131;1741651;1741869;1741873;1741879;1741891;1742143;1742145;1742391;1742959;1744837;1744839;1744841;1769587;2182796 D18S1032;G29143;GDB:176279;GDB:176280;GDB:176281;GDB:177915;GDB:181629;GDB:186202;GDB:186206;GDB:186319;GDB:186556;GDB:192401;GDB:192403;GDB:196602;GDB:217063;GDB:568908;GDB:568915;GDB:568923;RH11645;RH75505;RH76196 ATTR;CTS;CTS1;HEL111;HsT2651;PALB;TBPA OTTHUMP00000162827;carpal tunnel syndrome 1;epididymis luminal protein 111;prealbumin, amyloidosis type I;thyroxine-binding prealbumin;transthyretin (prealbumin, amyloidosis type I) APPROVED protein-coding ENSG00000118271 HGNC:12405 01447 105210;115430;145680;176300 REVIEWED 1350774 TTTY12 testis-specific transcript, Y-linked 12 (non-protein coding) INTERACTS WITH all-trans-retinoic acid Y Y Y p11.2 1542988 1548747 - 7672965 7678724 + 7804924 7810683 + 6480464 12815422 83867 Q9BZ98 ABBA01060164;AC007275;NR_001551 Hs.667616 NCRNA00135;TTY11;TTY12 ncrna ENSG00000237048 HGNC:18493 PROVISIONAL 1354260 TTTY11 testis-specific transcript, Y-linked 11 (non-protein coding) Y Y Y p11.2 536301 570370 + 8651354 8685423 - 8783313 8817382 - 12815422 83866 ABBA01060262;ABBA01060263;ABBA01060264;ABBA01060265;ABBA01060266;AC009491;HG512825;NR_001548 Hs.122396 2171384;2188203 DXS7410;G66267 NCRNA00134;TTY11 ncrna ENSG00000180910 HGNC:18492 PROVISIONAL 1346031 TTTY13 testis-specific transcript, Y-linked 13 (non-protein coding) FOUND IN integral component of membrane (inferred); INTERACTS WITH benzene-1,2,4-triol Y Y Y q11.223 8424879 8435945 - 23745486 23756552 - 21583600 21594666 - 1580863;6480464 12815422 83868 Q9BZ97 ABBA01049543;ABBA01049544;AC021107;NG_004832;NR_001537 Hs.615432 NCRNA00136;TTY13 APPROVED ncrna ENSG00000184991 HGNC:18494 PROVISIONAL 4109270 TTTY13C testis-specific transcript, Y-linked 13C Y Y p11.2 348873 352257 + 8869469 8872853 - 100287979 XM_002344202;XM_002346350 XP_002344243;XP_002346391 protein-coding HGNC:38613 4105754 TTTY13B testis-specific transcript, Y-linked 13B Y Y p11.2 120176 122776 - 9107322 9109922 + 8565703 100287735 Q9UMI4 AC009952;X82181;XM_002344439;XM_002346351 CAA57672;XP_002344480;XP_002346392 pFIV uncharacterized protein LOC100287735 ncrna HGNC:38596 1349594 TTTY16 testis-specific transcript, Y-linked 16 (non-protein coding) Y Y Y p11.2 1652424 1654314 + 7567398 7569288 - 7699357 7701247 - 12815422 252948 AC007274;AF527828;NR_001552 Hs.522848 NCRNA00139 ncrna ENSG00000225520 HGNC:18840 PROVISIONAL 1352248 TTTY15 testis-specific transcript, Y-linked 15 (non-protein coding) INTERACTS WITH benzo[a]pyrene; ethyl methanesulfonate X Y Y q11.1 1767585 1797440 + 14774298 14804153 + 12662367 12692224 + 6480464 12815422 64595 ABBA01065622;ABBA01065623;ABBA01065624;AC004810;AC244213;AL080135;HG512848;HG512849;HG512850;NR_001545 Hs.433656 1678845;1678853;1690516;1772716;2188313;2188321;2188323;2188329 DYS273;G66190;G66194;G66196;G66200;RH38675;RH92730;RH94046 DKFZp434I143;NCRNA00138 ncrna ENSG00000233864 HGNC:18567 PROVISIONAL 1343062 TTTY17A testis-specific transcript, Y-linked 17A (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.2 10803315 10804446 + 24997731 24998862 + 22851584 22852715 + 12815422 252949 AC016911;AF527829;NG_004755;NR_001526 Hs.522869 NCRNA00140;TTTY17 testis-specific transcript, Y-linked 17A;testis-specific transcript, y-linked 17 APPROVED ncrna ENSG00000228240 HGNC:18841 400040 VALIDATED 1351032 TTTY17B testis-specific transcript, Y-linked 17B (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10803315 10804446 + 26631479 26632610 + 24485332 24486463 + 12815422 474151 ABBA01111499;AC016698;NG_004755;NR_002180 Hs.741142 NCRNA00141 APPROVED ncrna ENSG00000227439 HGNC:31889 VALIDATED 1342643 TTTY14 testis-specific transcript, Y-linked 14 (non-protein coding) INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate Y Y Y q11.222 6534238 6560211 + 21212994 21239302 - 19051108 19077416 - 6480464 11181995;12815422;16344560;20967262 83869 ABBA01073718;ABBA01073719;ABBA01073720;AC007244;AC009235;AF119903;AF332243;AI686166;BG430850;BI754238;BI824313;BM750145;BX280014;CH471202;DA411985;DB155066;FY210693;FY211103;FY211594;FY213451;HY121109;NR_001543;NR_001544;NR_125733;NR_125734;NR_125735;NR_125736;NR_125737 AAF69657;EAW54674;EAW54675 Hs.138453;Hs.729534;Hs.734681 1662914;1686452;1688196;1743969;1743973;1743975;1744969;1795060;1795510;2152614;2188635;2188637;2188643;2188653;2188905;5116798 CD24_1314;DYS415;G65966;G66370;G66371;G66374;G66379;GDB:384220;GDB:384235;GDB:384236;GDB:585571;PMC95860P1;RH15606;RH66795;RH70313;sY3188 CYorf14;NCRNA00137;NCRNA00185;PRO2834;TTY14 ncrna ENSG00000176728 HGNC:18495 VALIDATED 1347507 TTTY17C testis-specific transcript, Y-linked 17C (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10803315 10804446 + 27329790 27330920 - 25183643 25184773 - 12815422 474152 AC006386;NG_004755;NR_002179 Hs.741142 NCRNA00142 APPROVED ncrna ENSG00000223641 HGNC:31890 VALIDATED 1351766 TTTY18 testis-specific transcript, Y-linked 18 (non-protein coding) Y Y Y p11.2 669820 670328 + 8551411 8551919 - 8683370 8683878 - 12815422 252950 ABBA01060253;AC064829;AF527830;NR_001550 Hs.522852 NCRNA00143 ncrna ENSG00000233699 HGNC:18842 PROVISIONAL 1349939 TTTY19 testis-specific transcript, Y-linked 19 (non-protein coding) Y Y Y p11.2 648405 649216 - 8572513 8573324 + 8704472 8705283 + 12815422 252952 ABBA01060254;AC064829;AF527831;NR_001549 Hs.522853 NCRNA00144 ncrna ENSG00000232419 HGNC:18843 PROVISIONAL 1353377 TTTY2 testis-specific transcript, Y-linked 2 (non-protein coding) INTERACTS WITH levonorgestrel Y Y Y p11.2 2911282 2933482 + 9573895 9596085 + 9736286 9758476 + 6480464 12815422;9381176 60439 AC017019;DB449030;NR_001536 Hs.158345 1750777;2135798;2187981;2188845;5127478 G34978;G34980;G65854;G66137;SHGC-102520 NCRNA00109;TTY2;lINC00109 ncrna HGNC:14023 VALIDATED 3340286 TTTY1B testis-specific transcript, Y-linked 1B (non-protein coding) Y Y Y p11.2 2928162 2949325 - 6258442 6279605 + 6390401 6411564 + 12815422;9847074 100101116 ABBA01031142;AC006335;HG512812;HG512844;NR_003589 Hs.722842 1750777;2135798;2188837 G34978;G65847;SHGC-102520 TTTY1 ncrna ENSG00000129816 HGNC:37981 VALIDATED 1348529 TTTY20 testis-specific transcript, Y-linked 20 (non-protein coding) Y Y Y p11.2 62576 62764 + 9167489 9172441 - 9329880 9334832 - 12815422 252951 AC006158;AF527832;NR_001546 Hs.632292 1790965;5115902 sY1249;sY1293 NCRNA00145 ncrna ENSG00000232808 HGNC:18844 PROVISIONAL 1352031 TTTY21 testis-specific transcript, Y-linked 21 (non-protein coding) Y Y Y p11.2 2892649 2896292 - 9555262 9558905 - 9717653 9721296 - 12815422 252953 AC017019;AF527833;NR_001535 Hs.522847 NCRNA00146 ncrna ENSG00000228890 HGNC:18845 PROVISIONAL 1313976 TTPAL tocopherol (alpha) transfer protein-like ENCODES a protein that exhibits transporter activity (inferred); INVOLVED IN transport (inferred); FOUND IN membrane; INTERACTS WITH (+)-catechin; atrazine; benzo[a]pyrene diol epoxide I 20 20 20 q13.12 39813199 39831891 + 43104526 43123244 + 44475886 44494603 + 6480464 11780052;12477932;14702039;15174051;15342556;15489334;15761153;19322201;19946888 79183 A6PVK2;B2RA57;Q5QPC2;Q9BTX7 ABBA01052642;AK056178;AK125126;AK307236;AK314045;AL132772;AMYH02037135;BC003071;BP351602;BQ646722;CH471077;CR936621;KF510471;NM_001039199;NM_001261839;NM_024331;XM_005260549;Z97053 AAH03071;BAG36754;CAI56764;EAW75918;EAW75919;NP_001034288;NP_001248768;NP_077307;Q9BTX7;XP_005260606 Hs.283869 1658601;1661408;1773878;1855368;1855637;2174647;5022200;5022651;5037552 A007K47;AL023483;D11S2921;D8S2279;L18426;RH16183;STS-AA010225;WI-15802;WIAF-1481 C20orf121;DKFZp686E0870;MGC2470 OTTHUMP00000043614;OTTHUMP00000063220;OTTHUMP00000063221;alpha-tocopherol transfer protein-like protein-coding ENSG00000124120 HGNC:16114 09837 VALIDATED 1343579 TTTY22 testis-specific transcript, Y-linked 22 (non-protein coding) Y Y Y p11.2 2976159 2989205 + 9638762 9650854 + 9801153 9813245 + 12815422 252954 ABBA01031142;ABBA01031143;AC010891;AC017019;AF527834;HG512845;NR_001539 Hs.511961 1750783 SHGC-102963 NCRNA00147 ncrna ENSG00000224075 HGNC:18846 PROVISIONAL 1346646 TTTY23 testis-specific transcript, Y-linked 23 (non-protein coding) Y Y Y p11.2 3086749 3087913 + 9748407 9749593 + 9910798 9911962 + 12815422 252955 ABBA01031143;AC006986;AF527836;HG512810;NR_001540 Hs.522846 NCRNA00148;TTTY23B ncrna ENSG00000239225 HGNC:18847 PROVISIONAL 3340275 TTTY23B testis-specific transcript, Y-linked 23B (non-protein coding) Y Y Y p11.2 3086749 3087913 + 6110465 6111651 - 6242446 6243610 - 12815422;9847074 100101121 AC006335;AF527836;HG512847;NR_003593 Hs.522846;Hs.744834 TTTY23 ncrna ENSG00000237069 HGNC:37983 VALIDATED 3028768 TTTY24P testis-specific transcript, Y-linked 24, pseudogene Y Y Y p11.2 383242 383631 - 8838096 8838485 + 8970055 8970444 + 100287941 ABBA01060282;AC007967;NG_031896 pseudo HGNC:38521 INFERRED 3254938 TTTY25P testis-specific transcript, Y-linked 25, pseudogene Y Y Y q11.223 9003741 9004211 - 24477679 24478149 + 22331532 22332002 + 100287026 ABBA01005812;AC007320;NG_032203 pseudo HGNC:38524 INFERRED 3051035 TTTY26P testis-specific transcript, Y-linked 26, pseudogene Y Y p11.2 1692924 1693502 + 7528211 7528789 - 100287818 AC007274 pseudo HGNC:38528 3051033 TTTY27P testis-specific transcript, Y-linked 27, pseudogene Y Y p11.2 839141 839536 - 8382203 8382598 + 100287874 AC016991 pseudo HGNC:38527 3102875 TTTY28P testis-specific transcript, Y-linked 28, pseudogene Y Y q11.23 9215242 9215641 + 28289709 28290108 + 100287606 AC006991 pseudo HGNC:38534 3231840 TTTY29P testis-specific transcript, Y-linked 29, pseudogene Y q11.223 25672802 25673201 - 100287167 AC009947 pseudo HGNC:38547 3340311 TTTY2B testis-specific transcript, Y-linked 2B (non-protein coding) Y Y Y p11.2 2911282 2933482 + 6274285 6296485 - 6406244 6428444 - 12815422;9847074 100101117 ABBA01031142;AC006335;NR_003590 Hs.723046 1750777;2135798;2187981;2188845;5115898 G34978;G65854;G66137;SHGC-102520;sY1229 ncrna HGNC:37982 VALIDATED 4105739 TTTY30P testis-specific transcript, Y-linked 30, pseudogene Y Y Y p11.2 1099407 1099901 + 8121813 8122307 - 8253772 8254266 - 100287844 ABBA01060214;AC016749;NG_032208 1741983 DYF48S1 pseudo HGNC:38604 INFERRED 4109286 TTTY31P testis-specific transcript, Y-linked 31, pseudogene Y Y p11.2 425680 426664 - 8795089 8796046 + 100287905 AC007967 pseudo HGNC:38711 3340303 TTTY21B testis-specific transcript, Y-linked 21B (non-protein coding) Y Y Y p11.2 2892649 2896292 - 6311475 6315118 + 6443434 6447077 + 12815422;9847074 100101115 ABBA01031142;AC006335;AF527833;NR_003588 Hs.522847;Hs.745572 ncrna ENSG00000237563 HGNC:37980 VALIDATED 1349314 TTTY3B testis-specific transcript, Y-linked 3B (non-protein coding) There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10156303 10161201 - 26082874 26087769 - 23936727 23941622 - 12815422 474148 ABBA01000444;AC073893;NG_004755;NR_002176 Hs.511777 2181570 L17696 LNCRNA00122;NCRNA00122 APPROVED ncrna HGNC:31888 VALIDATED 1348326 TTTY4 testis-specific transcript, Y-linked 4 (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.2 10888193 10924998 + 25082602 25119431 + 22936455 22973284 + 12815422;22736055 114761 AC006366;AF332231;NG_004755;NR_001525 Hs.679521 LINC00123;NCRNA00123;TTTY4A;TTY4 APPROVED ncrna ENSG00000226906 HGNC:16481 400037 VALIDATED 1350699 TTTY4B testis-specific transcript, Y-linked 4B (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10888193 10924998 + 26716349 26753172 + 24570202 24607025 + 12815422 474149 AC010153;NG_004755;NR_002178 Hs.679521 LINC00124;NCRNA00124 APPROVED ncrna ENSG00000235412 HGNC:31891 VALIDATED 1353688 TTTY4C testis-specific transcript, Y-linked 4C (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10888193 10924998 + 27209230 27246039 - 25063083 25099892 - 12815422 474150 ABBA01017884;AC016728;NG_004755;NR_002177 Hs.742604 LINC00125;NCRNA00125 APPROVED ncrna ENSG00000228296 HGNC:31892 VALIDATED 1605324 TTTY5 testis-specific transcript, Y-linked 5 (non-protein coding) There is a single copy of this gene on chromosome Y at the center of the P3 palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 9036866 9038944 + 24442945 24445023 - 22296798 22298876 - 11687796;12815422 83863 ABBA01005808;AC007320;NG_004755;NR_001541 Hs.121389 LINC00126;NCRNA00126;TTY5 APPROVED ncrna ENSG00000215560 HGNC:16482 15587 400038 VALIDATED 1353962 TTTY6 testis-specific transcript, Y-linked 6 (non-protein coding) There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8894290 8896156 + 24585740 24587606 - 22439593 22441459 - 12815422 84672 AC007320;NG_004755;NR_001527 Hs.535085 LINC00127;NCRNA00127;TTTY6A;TTY6 APPROVED ncrna ENSG00000131538 HGNC:16483 400039 VALIDATED 1347321 TTTY6B testis-specific transcript, Y-linked 6B (non-protein coding) There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8894312 8896156 - 24291134 24292981 + 22144987 22146834 + 12815422;17114936 441543 AA884105;ABBA01005818;AC023342;AY597808;NG_004755;NR_002175 Hs.535085;Hs.722660 LINC00128;NCRNA00128;TTTY6;TTY6 APPROVED ncrna ENSG00000131548 HGNC:31887 VALIDATED 1348603 TTTY7 testis-specific transcript, Y-linked 7 (non-protein coding) Y Y Y p11.2 2881820 2890258 - 6317509 6325947 + 6449468 6457906 + 12815422 246122 ABBA01031142;AC006335;AF278761;AF278762;AF332232;AW514248;HG512815;HG512816;HG512840;NR_001534 Hs.407277 1676560;2188879;2188881 G65950;G65951;RH92478 CLONE795723;LINC00129;NCRNA00129;TTTY7A;TTTY7B;TTY7 ncrna ENSG00000147753 HGNC:18488 VALIDATED 1346627 TTTY8 testis-specific transcript, Y-linked 8 (non-protein coding) Y Y Y p11.2 2866095 2868694 + 9528709 9531308 + 9691100 9693699 + 12477932;12815422 84673 AC017019;AF332235;BC026100;NR_001533 Hs.742605 LINC00130;NCRNA00130;TTY8 ncrna ENSG00000183385 HGNC:18489 PROVISIONAL 1353702 TTTY9A testis-specific transcript, Y-linked 9A (non-protein coding) This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.222 6873997 6883312 - 20891768 20901083 + 18729882 18739197 + 12815422 83864 ABBA01073681;AC007379;BX279935;NG_004636;NR_001530 Hs.536002;Hs.724282 5021778;5022977;5116134;5116156 sY1950;sY1951;sY1967;sY1982 NCRNA00131;TTTY9;TTY9 testis-specific transcript, Y-linked 9A;testis-specific transcript, y-linked 9 APPROVED ncrna ENSG00000242153 HGNC:18490 REVIEWED 1350311 TTTY3 testis-specific transcript, Y-linked 3 (non-protein coding) There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.23 10156303 10161201 - 27874637 27879535 + 25728490 25733388 + 12815422 114760 AC010682;AF332230;NG_004755;NR_001524 Hs.511777 2181570 L17696 LINC00121;NCRNA00121;TTTY3A;TTY3 APPROVED ncrna ENSG00000231141 HGNC:16480 400036 VALIDATED 1603457 TTTY9B testis-specific transcript, Y-linked 9B (non-protein coding) This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.221 6873997 6883312 - 20743092 20752407 - 18581206 18590521 - 12815422;17114936 425057 AC022486;NG_004636;NG_012030;NR_002159 Hs.724282 5021778;5022977;5116134;5116156 sY1950;sY1951;sY1967;sY1982 NCRNA00132;TTTY9;TTTY9A;TTY9 APPROVED ncrna ENSG00000131007 HGNC:32425 REVIEWED 1319948 TTYH3 tweety family member 3 This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel. [provided by RefSeq, Jul 2008] 7 7 7 p22 2640452 2673317 + 2671603 2704436 + 2631969 2664802 + 6480464 11214970;12477932;14702039;15010458;16219661;18577513;18624398;19056867;19322201;21139048;21890473;21906983;21987572;22505724;23000965;23128233;23503679 80727 A8MXJ9;H7C3T6;Q8WYU9;Q9C0H2 AB051478;AB162931;ABBA01039385;AC006028;AC073462;AF318350;AK074158;AK096851;AK124608;AL522452;AL833825;AMYH02015080;BC041603;BC069027;BC131824;BC152447;CH236953;CH471144;NM_025250 AAI31825;AAI52448;AAL55857;BAB21782;BAB84984;BAC85898;BAD20190;CAH10666;EAL23958;EAW87265;EAW87266;EAW87267;EAW87268;NP_079526;Q9C0H2 Hs.440899 2117301;2184626 D7S2636;RH12392 KIAA1691;hTTY3 OTTHUMP00000201106;OTTHUMP00000201107;OTTHUMP00000201108;tweety homolog 3 APPROVED protein-coding ENSG00000136295 HGNC:22222 12333 608919 REVIEWED 2798411 TTTY7B testis-specific transcript, Y-linked 7B (non-protein coding) Y Y Y p11.2 2881820 2890258 - 9544433 9552871 - 9706824 9715262 - 12815422;9847074 100101120 AC017019;BX089948;HG512841;NR_003592 Hs.711912 1676560;2188879;2188881 G65950;G65951;RH92478 NCRNA00215 ncrna ENSG00000147761 HGNC:37463 VALIDATED 2798400 TTTY8B testis-specific transcript, Y-linked 8B (non-protein coding) Y Y Y p11.2 2866095 2868694 + 6339072 6341671 - 6471031 6473630 - 12815422;9847074 100101118 AA620621;ABBA01031142;AC010154;AF332235;BC026100;HG512819;HG512837;NR_003591 Hs.461138;Hs.742605 NCRNA00217;TTTY8 ncrna ENSG00000185700 HGNC:37622 VALIDATED 8695486 TUB-AS1 TUB antisense RNA 1 11 11 p15.4 8081585 8090920 + 8060038 8069373 + 14702039 101927917 ABBA01028685;AC116456;AK055772;AMYH02024287;DA626152;HG503500;HG503501;NR_120537;NR_120538;XR_242851;XR_247621;XR_252858 Hs.680586 ncrna HGNC:51120 VALIDATED 1354269 TTYH2 tweety family member 2 This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 68796241 68850209 + 72209696 72258159 + 74213557 74262020 + 6480464;8554872 11597145;12477932;14702039;14739304;15010458;17569141;18260827;18577513;20098747;20467438;21139048;21706016 94015 B4DKD1;J3KRY9;J3KSH7;Q8N3U8;Q9BSA4 ABBA01028845;ABBA01028846;AC100786;AF319952;AK058197;AK091085;AK126955;AK296511;AK315163;AL831858;AMYH02033974;BC004233;BC005168;BC107492;BC107602;BF529231;BX647912;CH471099;NM_032646;NM_052869;XM_005257824 AAH05168;AAI07493;AAI07603;AAL16784;BAC03579;BAG37607;BAG54409;BAG59143;CAD38555;CAH10576;EAW89142;EAW89143;NP_116035;NP_443101;Q9BSA4;XP_005257881 Hs.27935 1335124;1336910;1337059;1648965;1685964;1766447;1780056 D17S1602;D17S597;D17S929;G30991;RH94317;SHGC-149778;SHGC-154305 C17orf29;MGC126172;MGC4837;hTTY2 OTTHUMP00000231711;OTTHUMP00000231712;OTTHUMP00000231713;tweety homolog 2 APPROVED protein-coding ENSG00000141540 HGNC:13877 16394 608855 REVIEWED 1320816 TTYH1 tweety family member 1 This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011] 19 19 19 q13.4 51967223 51988650 + 54926605 54947899 + 54415426 54436719 + 1580863;6480464 10950931;12477932;15010458;16219661;18577513;21139048;23720494;24316981;8889548 57348 B7Z1H9;C9J3K6;E7ET67;F8WBE6;G8JLI0;Q9H313 AB162930;AB188496;ABBA01068158;AC008746;AC245884;AF177909;AK126690;AK289468;AK293468;BC011347;BC019358;BC065919;BU737336;BX402889;CH471135;CU207370;CU467002;NM_001005367;NM_001201461;NM_020659;XM_006723296;XM_006726274 AAG02580;AAH11347;AAH19358;BAC86645;BAD20189;BAD37142;BAF82157;BAH11515;EAW72239;EAW72240;EAW72241;EAW72242;EAW72243;EAW72244;EAW72245;EAW72246;NP_001005367;NP_001188390;NP_065710;Q9H313;XP_006723359;XP_006726337 Hs.268728 1730115;1804886;1805326;1810764;1810834;1810836;1813604;1818226;1824092;1825350;1825836;1827728;1829376;1832120;1832122;1835852;1836186;1838206;1839096;1839652;1840788;1841442;1841764;1844958;1845522;2043396;2043398;2043400;2043402;2043404;2043406;2043408;2043410;2043412;2043414;2043416;2043418;2043420;2043422;2043424;2043426;2043428;2043430;2043432;2043434;2043436;2043438;2043440;2043442;2043444;2043446;2043448;2043450;2043452;2043454;2043456;2043458;2043460;2043462;2043464;2043466;2043468;2043470;2043472;2043474;2043476;2043478;2043480;2043482;2043484;2043486;2043488;2043490;2043492;2043494;2043496;2043498;2043500;2043502;2043504;2043506;2043508;2043510;2043512;2043514;2043516;2043518;2043520;2043522;2043524;2043526;2043528;2043530;2043532;2043534;2043536;2043538;2043540;2043542;2043544;2043546;2043548;2043550;2043552;2043554;2043556;2043558;2043560;2043562;2043564;2043566;2043568;2043570;2043572;2043574;2043576;2043578;2043580;2043582;2043584;2043586;2043588;2043590;2043592;2043594;2043596;2043598;2043600;2043602;2043604;2103946;2103948;2103950;2103952;2103954;2103956;2103958;2103960;2103962;2103964;2103966;2103968;2103970;2103972;2147611;2153087;5014023;5014029;5015619;5016478;5020948;5022463;5037552 A005U08;D11S3114;D13S1553;D13S1639;D19S822E;D3S1673;D8S2279;ECD03378;ECD03610;ECD06380;ECD06415;ECD06416;ECD07825;ECD10170;ECD13142;ECD13781;ECD14026;ECD14986;ECD15819;ECD17198;ECD17199;ECD19087;ECD19254;ECD20275;ECD20727;ECD21009;ECD21585;ECD21917;ECD22081;ECD23695;ECD23979;G35510;GDB:434012;REN92748;REN92749;REN92750;REN92751;REN92752;REN92753;REN92754;REN92755;REN92756;REN92757;REN92758;REN92759;REN92760;REN92761;REN92762;REN92763;REN92764;REN92765;REN92766;REN92767;REN92768;REN92769;REN92770;REN92771;REN92772;REN92773;REN92774;REN92775;REN92776;REN92777;REN92778;REN92779;REN92780;REN92781;REN92782;REN92783;REN92784;REN92785;REN92786;REN92787;REN92788;REN92789;REN92790;REN92791;REN92792;REN92793;REN92794;REN92795;REN92796;REN92797;REN92798;REN92799;REN92800;REN92801;REN92802;REN92803;REN92804;REN92805;REN92806;REN92807;REN92808;REN92809;REN92810;REN92811;REN92812;REN92813;REN92814;REN92815;REN92816;REN92817;REN92818;REN92819;REN92820;REN92821;REN92822;REN92823;REN92824;REN92825;REN92826;REN92827;REN92828;REN92829;REN92830;REN92831;REN92832;REN92833;REN92834;REN92835;REN92836;REN92837;REN92838;REN92839;REN92840;REN92841;REN92842;REN92843;REN92844;REN92845;REN92846;REN92847;REN92848;REN92849;REN92850;REN92851;REN92852;RH47298;stSG606048;stSG606049;stSG606050;stSG606052;stSG606053;stSG606054;stSG606055;stSG606056;stSG606057;stSG606058;stSG606059;stSG606060;stSG606061;stSG606062 hTTY1 OTTHUMP00000068178;OTTHUMP00000068179;OTTHUMP00000068180;tweety homolog 1 APPROVED protein-coding ENSG00000167614 HGNC:13476 12043 605784 REVIEWED 1343505 TUB tubby bipartite transcription factor This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 8175909 8243289 + 8040742 8127654 + 8019195 8106107 + 1625564;1625565;1580863;6480464;8554872 8612280;8772727 10455176;10591637;11000483;11375483;11801719;12477932;1358794;15489334;16443771;17498679;17955208;18029348;18183286;19058789;19077438;19486527;19837063;19913121;20080650;20628086;20935630;20978472;22632162;23000965;24664737;9096357 7275 E9PQR4;P50607 AB209618;ABBA01028684;ABBA01028685;ABBA01028686;ABBA01028687;AC116456;AJ277662;AJ296302;AK293528;AMYH02024287;AMYH02024288;BC036400;BC075031;BC075032;BM992151;CH471064;NG_029912;NM_003320;NM_177972;U54644;U82467;XM_005253109;XM_006718303 AAB53494;AAB53699;AAH75031;AAH75032;ABZ92240;BAD92855;BAG57010;CAC14586;CAC39298;EAW68632;EAW68633;EAW68634;NP_003311;NP_813977;P50607;XP_005253166;XP_006718366 Hs.568986;Hs.733193 1777207;1793266;1793268;1794056;2162565 G02283;PMC20333P1;PMC20333P2;PMC310777P16;RH36564 rd5 OTTHUMP00000230766;OTTHUMP00000230767;OTTHUMP00000230768;tubby homolog;tubby homologue;tubby protein homolog APPROVED protein-coding ENSG00000166402 HGNC:12406 03121 601197 REVIEWED 1606486 TUBA1C tubulin, alpha 1c ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); structural constituent of cytoskeleton (inferred); INVOLVED IN 'de novo' posttranslational protein folding (inferred); cell division (inferred); cellular protein metabolic process (inferred); PARTICIPATES IN pathogenic Escherichia coli infection pathway; FOUND IN nucleus; vesicle; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 12 12 12 q13.12 48451683 48459932 + 49621715 49667117 + 49265082 49273330 + 6480464;6907045 10908577;12090300;12477932;12486001;15103018;15331610;15489334;15576338;15592455;15691386;15698476;1602151;16148047;16196087;16226712;16236267;16327313;16944923;17081983;17360745;17373842;17620599;17955473;18029348;18214993;18400243;18613978;18781797;19190083;19287380;19380743;19460752;19596686;20085233;20473970;20618440;20639865;20972266;21139048;21145461;21167302;21252943;21319273;21565611;21890473;21906983;21963094;21965743;21987572;22053931;22108332;22174317;22268729;22337587;22505724;22536838;22586326;22623428;22797925;22810585;22863883;22939629;23246001;23402259;23443559;23463506;23703321;24244333;24332808;24583282;24816145;25027693;7821789;8125298 84790 F5H5D3;F8VRK1;F8VS66;H0YHV2;Q9BQE3 ABBA01031515;AC125611;AK223024;AK293589;AMYH02026444;BC004949;BC005946;BC011790;BC019298;BC021088;BC033064;BC051297;BC063036;CH471111;D28390;NM_032704 AAH04949;AAH05946;AAH11790;AAH19298;AAH21088;AAH33064;AAH51297;AAH63036;ABM83912;ABM87234;BAA05756;BAD96744;BAH11541;EAW58057;NP_116093;Q9BQE3 Hs.652390 2114180;5015473;5106678 A002J21;D22S1042;RH48063 MGC10851;MGC14580;TUBA6;bcm948 OTTHUMP00000241322;OTTHUMP00000241326;OTTHUMP00000241327;alpha-tubulin 6;tubulin alpha-1C chain;tubulin alpha-6 chain;tubulin, alpha 6 protein-coding ENSG00000167553 HGNC:20768 06747 PROVISIONAL 1605119 TUBA3C tubulin, alpha 3c Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq, Jul 2008] 13 13 13 q11 809856 817876 - 19747910 19755992 - 19173770 19181852 - 6480464;6907045;8554872 10036193;10840040;10908577;11082048;11121746;11146551;11163133;11278332;11535601;11826099;11953448;12477932;12486001;14583623;14760703;15057823;15103018;15324660;15331610;15489334;15691386;15698476;16148047;16189514;16327313;16344560;17360745;17620599;18400243;19156129;19287380;20639865;20797700;20972266;21139048;21145461;21167302;21890473;21906983;21942715;21963094;21987572;21988832;22053931;22505724;22581228;22810585;23246001;23314748;23443559;23463506;23826228;24268707;24583282;24816145;7651436;8530067;8566014;9372968;9465305;9722999 7278 Q13748;Q1ZYQ1 AA412719;ABBA01068550;AF005392;AL139327;AMYH02027608;AMYH02027609;BC011721;CH471075;DB026664;DB524026;DQ422808;L11645;NM_006001 AAA35521;AAC39578;AAH11721;AAX29832;ABD72607;ABM83795;ABM86864;EAX08210;EAX08211;NP_005992;Q13748 Hs.349695 1744723;2108615;5024541 D1S3688;GDB:555004;TUBA2_8697 TUBA2;TUBA3D;bA408E5.3 OTTHUMP00000018071;alpha-tubulin 2;alpha-tubulin 3C/D;tubulin alpha-2 chain;tubulin alpha-3C/D chain;tubulin, alpha 2 APPROVED protein-coding ENSG00000198033 HGNC:12408 03958 602528 REVIEWED 1604550 TUBA3E tubulin, alpha 3e ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); structural constituent of cytoskeleton (inferred); INVOLVED IN GTP catabolic process (inferred); microtubule-based process (inferred); protein polymerization (inferred); PARTICIPATES IN pathogenic Escherichia coli infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; tunicamycin; (S)-colchicine (ortholog) 2 2 2 q21.1 124224106 124230823 - 130949318 130956034 - 130191745 130198461 - 6480464;6907045;8554872 12477932;15691386;15698476;17207965;18029348;20360068;20462248;20639865;20972266;21110914;21139048;21167302;21890473;21906983;21942715;21963094;21987572;22053931;22178446;22505724;22810585;23246001;23463506;23826228;24639526;24816145 112714 Q6PEY2 AA397983;ABBA01017943;ABBA01017944;ABBA01017945;AC018804;AK131043;AMYH02004774;BC057811;HC007370;NM_207312 AAH57811;ADQ32962;CBH19490;NP_997195;Q6PEY2 Hs.433336 1744723;2106487 GDB:555004;H2-ALPHA__6686 OTTHUMP00000162394;alpha-tubulin 3E;tubulin alpha-3E chain protein-coding ENSG00000152086 HGNC:20765 17288 VALIDATED 1606186 TUBA3D tubulin, alpha 3d This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. [provided by RefSeq, Oct 2011] 2 2 2 q21.1 1 637 + 132233580 132240507 + 131476007 131482934 + 6480464;6907045;8554872 12477932;14702039;15691386;15698476;15851850;16189514;16344560;17207965;18029348;19322201;21145461;21167302;21906983;21942715;22505724;23246001;23314748;23463506;23826228;24244333;24816145;3785200 113457 Q13748;Q1ZYQ1 ABBA01028233;AC073869;AK093116;AK292253;AMYH02004810;AW966211;BC057810;DB051220;HC007368;K03460;NG_030320;NM_080386 AAA36785;AAH57810;ADQ33041;BAF84942;CBH19489;NP_525125;Q13748 Hs.503749 1744723;2106487;5024541 D1S3688;GDB:555004;H2-ALPHA__6686 H2-ALPHA;TUBA3C OTTHUMP00000204183;alpha-tubulin 2;alpha-tubulin 3C/D;alpha-tubulin isotype H2-alpha;tubulin alpha-2 chain;tubulin alpha-3C/D chain APPROVED protein-coding ENSG00000075886 HGNC:24071 17085 REVIEWED 1607082 TUBA1A tubulin, alpha 1a Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blotting studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, mental retardation, and early-onset epilepsy and caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] 12 12 12 q13.12 48371440 48375724 - 49578578 49583107 - 49184795 49189324 - 6480464;6907045;7240710;8554872;8699517 10191277;10772929;10862713;10908577;11076968;11121746;11146551;11163133;11504633;11687285;11842207;11953448;11964161;12024216;12052866;12090300;12221128;12417528;12417652;12429849;12477932;12486001;12486003;12510195;12606581;12621024;12639940;12639963;12716939;12771190;12777385;12852856;14506234;14532270;14583623;14594945;14634002;14697242;14970193;15103018;15121898;15161933;15303970;15331610;15489334;15492215;15556606;15576338;15657067;15691386;15698476;15878338;15952740;16148047;16196087;16306228;16327313;16344560;16455083;16462731;16714300;16799092;16941085;16945107;17081983;17139257;17218254;17266347;17283187;17360745;17461779;17573780;17584854;17620599;17868192;17914564;17955473;17979178;18029348;18199681;18222923;18250096;18341635;18400243;18669490;18728072;18781797;18954413;19056867;19167051;19251251;19338310;19380743;19405953;19460752;19615732;19805454;19850743;19893491;19961433;20195357;20371770;20466733;20510079;20603323;20639865;20682791;20691906;20810659;20972266;21081666;21094644;21110914;21139048;21145461;21146485;21151833;21151955;21159966;21167302;21278340;21357695;21360678;21403111;21525035;21565611;21778226;21890473;21900206;21906983;21942715;21963094;21987572;21988832;22053931;22133677;22174317;22178446;22264709;22268729;22303461;22505724;22565157;22565168;22633752;22810585;22863883;22939629;22948023;23125841;23184937;23246001;23361065;23398456;23443559;23463506;23528852;23667531;23703321;23818224;23826228;24392928;24685680;24688049;24714105;24816145;25015289;25027693;25036637;2777757;3839072;6646120;7651436;7744867;7790358;8530437;9384577;9553134;9722999 7846 F8VQQ4;F8VRZ4;F8VXZ7;F8W0F6;Q71U36 ABBA01031512;AC010173;AF141347;AF141348;AK057842;AK289483;AK297775;AK298838;AMYH02026442;AU136397;BC006468;BC050637;BC057823;CH471111;DA117857;DC340080;K00557;NG_008966;NM_001270399;NM_001270400;NM_006009;X01703 AAA91575;AAD33871;AAD33872;AAH06468;AAH50637;ABM92196;ABW03282;BAF82172;BAG60120;BAG60966;CAA25855;EAW58052;EAW58053;EAW58054;EAW58055;NP_001257328;NP_001257329;NP_006000;Q71U36 Hs.654422 1648798;1794982;5015473;5106678 D22S1042;PMC86714P2;RH48063;WI-7090 B-ALPHA-1;FLJ25113;LIS3;TUBA3 OTTHUMP00000241384;OTTHUMP00000241386;OTTHUMP00000241388;OTTHUMP00000241389;OTTHUMP00000241390;OTTHUMP00000241391;OTTHUMP00000241394;alpha-tubulin 3;hum-a-tub1;hum-a-tub2;tubulin B-alpha-1;tubulin alpha-1A chain;tubulin alpha-3 chain;tubulin, alpha 3;tubulin, alpha, brain-specific APPROVED protein-coding ENSG00000167552 HGNC:20766 03959 602529;611603 REVIEWED 1603700 TUBA1B tubulin, alpha 1b ENCODES a protein that exhibits double-stranded RNA binding; INVOLVED IN 'de novo' posttranslational protein folding (inferred); cell division (inferred); cellular protein metabolic process (inferred); PARTICIPATES IN pathogenic Escherichia coli infection pathway; FOUND IN extracellular vesicular exosome; microtubule; INTERACTS WITH 4-hydroxynon-2-enal; arsenous acid; copper atom 12 12 12 q13.12 48315719 48319458 - 49521565 49525304 - 49127782 49131521 - 6480464;6907045 10840040;10908577;11082048;11146551;11532003;11535601;11580271;11698390;11826099;11953448;12054644;12087096;12090300;12235145;12477932;12481031;12486001;12606581;12750376;14697242;14702039;15032605;15084271;15103018;15129282;15331610;15489334;15556606;15592455;15691386;15698476;15806149;16148047;16216085;16824193;17360745;17461779;17628775;17725712;17893145;18029348;18195004;18354170;18457437;18523284;18613978;18781797;18790094;18806873;19174478;19215229;19380743;19394292;19405953;19409876;19460752;19738201;19996280;20020773;20162433;20195357;20204303;20237820;20381070;20639865;20972266;21110914;21139048;21163940;21167302;21565611;21881916;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22079093;22108332;22174317;22266860;22268729;22505724;22797925;22939629;22944692;22963397;23190606;23235160;23246001;23398456;23443559;23463506;23625295;23703321;23741361;23767669;23798680;23826228;24250222;24337577;24457600;24639526;24657165;24706829;24816145;24905733;25036637;6646120;7592789;7651436;8097117;8098743;8619814;8895530;9372968 10376 F8VRK0;F8VU66;F8VVB9;F8VWV9;F8VX09;P68363 ABBA01031508;AC011603;AF081484;AK026516;AK026632;AK056693;AK057773;AK094717;AK098357;AK098635;AK098771;AK289354;AK293337;AMYH02026435;BC000696;BC001128;BC006379;BC006481;BC008659;BC009314;BC009509;BC009512;BC009513;BC010494;BC011572;BC015883;BC017004;BC018948;BC021564;BC030820;BC071904;BF979331;CH471111;DQ400107;K00558;NM_006082;S62639;Z36832 AAA91576;AAC31959;AAH00696;AAH01128;AAH06379;AAH06481;AAH08659;AAH09314;AAH09509;AAH09512;AAH09513;AAH10494;AAH11572;AAH15883;AAH17004;AAH21564;AAH30820;AAH71904;ABD60581;ABM82424;ABM85615;BAF82043;BAG51785;BAG52918;BAG56853;EAW58048;EAW58049;NP_006073;P68363 Hs.524390 1663981;1722509;1847490;2179971;5015473;5106678 D11S4432;D12S1921;D22S1042;G60179;RH48063;STS-D51277 K-ALPHA-1 OTTHUMP00000243741;OTTHUMP00000243743;OTTHUMP00000243744;alpha tubulin;alpha-tubulin ubiquitous;tubulin K-alpha-1;tubulin alpha-1B chain;tubulin alpha-ubiquitous chain;tubulin, alpha, ubiquitous protein-coding ENSG00000123416 HGNC:18809 03960 602530 VALIDATED 1602661 TUBA3FP tubulin, alpha 3f, pseudogene 22 22 22 q11.21 4853795 4859879 - 21362492 21368576 - 21008203 21014287 - 12477932;14702039;15146197;21906983 113691 ABBA01015432;ABBA01015433;AC002472;AK057257;AK315686;AMYH02038086;BC009991;BI668929;CH471176;CN368433;NR_003608 EAX02915;EAX02916 Hs.585006 1674448;2109507;5021872;5022651;5037552 D11S2921;D22S548;D8S2279;MGC16703__7679;sY3084 APPROVED pseudo ENSG00000161149 HGNC:24067 17517 VALIDATED 6767065 TUBA3GP tubulin, alpha 3g, pseudogene 22 22 22 q11.21 4911045 4915751 + 21419756 21424462 + 21065467 21070173 + 645348 ABBA01015432;AC002472;AMYH02038086;NG_006439 1716383;1761305 RH121372;SHGC-145314 pseudo HGNC:44096 INFERRED 7174870 TUBA8P1 tubulin, alpha 8 pseudogene 1 3 3 3 43667097 43667965 - 43728774 43729642 - 43687282 43688150 - 100419007 ABBA01024758;AC105903;AMYH02006640;NG_025571 pseudo HGNC:44568 INFERRED 1345961 TUBA4B tubulin, alpha 4b (pseudogene) ENCODES a protein that exhibits GTP binding (inferred); structural constituent of cytoskeleton (inferred); INVOLVED IN microtubule-based process (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); INTERACTS WITH 5-fluorouracil; aflatoxin B1; all-trans-retinoic acid 2 2 2 q35 213887672 213906619 + 220117965 220136910 + 219253243 219272188 + 1580863;6480464 10908577;12477932;12486001;14702039;19380743;21110914;21145461;22360420;22863883;3785200 80086 Q9H853 ABBA01023843;ABBA01023844;ABBA01023845;AC068946;AK024002;AMYH02005820;BC121126;BC121127;CH471063;NR_003063 BAB14767;EAW70720;EAW70721;Q9H853 Hs.664469 1741511;2107727;5023351 GDB:181260;RH78682;TUBA4__5160 FLJ13940;TUBA4 putative tubulin-like protein alpha-4B;tubulin, alpha 4 pseudo ENSG00000243910 HGNC:18637 18242 PROVISIONAL 1344639 TUBAL1 tubulin, alpha-like 1 2444926 7279 HGNC:12409 1605120 TTN titin This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012] 2 2 2 q31 172993600 173266525 - 179390716 179672150 - 178525989 178807423 - 6480464;6907045;7240710;8554872;8699517 10051295;10053013;10462489;10481174;10625306;10850961;10987085;11084039;11101506;11178895;11243782;11305911;11448995;11525170;11701614;11717165;11746675;11788824;11799131;11800567;11812150;11846417;11851340;11911777;11927605;12145747;12187564;12198551;12202917;12221049;12414993;12432079;12444090;12446666;12477932;12482578;12507422;12555133;12785098;12785101;12816538;12865504;12891679;1429890;14583192;14593205;14630798;14676215;14702039;15174051;15211512;15238456;15322090;15345656;15385448;15489334;15507486;15582318;15632200;15802564;15815621;1582406;15849252;15967462;16322914;16407954;16410549;16465472;16465475;16531234;16627476;16713295;16733766;16766517;16902413;16949617;16962094;17028145;17215480;17353931;17366640;17444505;17496052;17522126;17574571;17620599;17669421;17890397;17920806;18029348;18157088;18212128;18310072;18519573;18654987;18948003;19003986;19013176;19023132;19056867;19134271;19179657;19282282;19608031;19622741;19651040;19679839;19850579;19911250;19913121;20031603;20171214;20301486;20301498;20301582;20301725;20360068;20414336;20414364;20467438;20479164;20489725;20542041;20571043;20618440;20625501;20628086;20634290;20808825;20926005;20952631;21041693;21050039;21145461;21257761;2129545;21319273;21728583;21741357;21810661;21906983;21963094;22004752;22162032;22178446;22223454;22238790;22266860;22335739;22466703;22475360;22505724;22523089;22577215;22577218;22747683;22768802;22778266;22939629;23063534;23224300;23283722;23418287;23439446;23443559;23446887;23486992;23514108;23602568;23764881;23798571;23907728;23975875;24105469;24241536;24315344;24395473;24457600;24575448;24625729;24630725;24654937;24850911;25015289;3397062;6457647;7505783;7569978;7588733;7607248;7613868;7819249;8063857;8351016;8522604;8537379;8604138;8631348;8937992;9185618;9251807;9359044;9501083;9548712;9642272;9645487;9763216;9782056;9804419;9817758 7273 A2TKE4;C9JQJ2;H0Y4J7;H0Y6U2;H7C0U7;H7C195;H7C1P9;Q7Z3B7;Q8WZ42 ABBA01062246;ABBA01062247;ABBA01062248;AC009948;AC010680;AC023270;AF058332;AF321609;AF525413;AJ277892;AK056602;AK091732;AK092284;AK096883;AK125056;AK129531;AK129919;AL713647;AL832094;AL832351;AL833110;AL833292;AMYH02005327;AMYH02005328;AMYH02005329;AMYH02005330;BC013396;BC017983;BC026297;BC029400;BC030823;BC058824;BC070170;BC107797;BX537998;CH471058;DQ248309;EF212153;EF212154;EF212155;EF212156;EU428784;FJ525883;FJ695199;JX424570;KF459616;NG_011618;NM_001256850;NM_001267550;NM_003319;NM_133378;NM_133379;NM_133432;NM_133437;X64697;X64698;X64699;X69490;X83270;X90568;X90569;X92412;X98114;X98115;XM_005246831;XM_006712723;XM_006712724;XM_006712725 AAD22603;AAD22604;AAH13396;AAH58824;AAH70170;AAI07798;AAP80791;AAT09768;AAX88844;ABB55264;ABN05229;ABN05230;ABN05231;ABN05232;ACA00206;ACN81321;AGL91770;BAC03850;CAA45938;CAA45939;CAA45940;CAA49245;CAA58243;CAA62188;CAA62189;CAA66795;CAA66796;CAD12455;CAD12456;CAD12457;CAD12458;CAD12459;CAD12460;CAD28458;CAD97954;EAX11013;EAX11014;EAX11015;EAX11016;EAX11017;EAX11018;EAX11019;NP_001243779;NP_001254479;NP_003310;NP_596869;NP_596870;NP_597676;NP_597681;Q8WZ42;XP_005246888;XP_006712786;XP_006712787;XP_006712788 Hs.134602 1298264;1338133;1340565;1644257;1663008;1672540;1679229;1684582;1721017;1734752;1734762;1734770;1734774;1734786;1734792;1734798;1734802;1734804;1734806;1734810;1734820;1734838;1734840;1739027;1759205;1790369;1849420;1857542;2115472;2120486;2127269;2127605;2148671;2167790;2185744;2191413;2218124;5109579;5109581;5109587;5125476;5491589;7185301;7186272;7186382 A004O05;A008T22;D2S1518E;D2S1519E;D2S1524E;D2S1532E;D2S1540E;D2S1546E;D2S1550E;D2S1553E;D2S1555E;D2S1560E;D2S1564E;D2S1568E;D2S1570E;D2S1571E;D2S1572E;D2S1574E;D2S1580E;D2S1591E;D2S1593E;D2S1881;D2S2384;D2S2648;D2S324;D2S364;D2S385;G59490;MARC_21540-21541:1033053987:1;MARC_23497-23498:1027358865:1;RH44253;RH48674;RH65366;RH65575;RH65621;RH65766;RH78892;RH91877;RH98821;SHGC-150597;SHGC-62013;TTN-1;TTN_3879 CMD1G;CMH9;CMPD4;DKFZp451N061;FLJ26020;FLJ26409;FLJ32040;FLJ34413;FLJ39564;FLJ43066;HMERF;LGMD2J;MYLK5;TMD EOMFC;OTTHUMP00000233809;OTTHUMP00000233810;connectin;rhabdomyosarcoma antigen MU-RMS-40.14 APPROVED protein-coding ENSG00000155657 HGNC:12403 01787 188840;600334;603689;604145;608807;611705;613765 REVIEWED 1313230 TUBAL3 tubulin, alpha-like 3 ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); structural constituent of cytoskeleton (inferred); INVOLVED IN GTP catabolic process (inferred); microtubule-based process (inferred); protein polymerization (inferred); PARTICIPATES IN pathogenic Escherichia coli infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); INTERACTS WITH zinc atom; zinc(0); (S)-colchicine (ortholog) 10 10 10 p15.1 5365751 5377481 - 5435061 5446793 - 5393098 5404830 - 1580863;6480464;6907045;8554872 12477932;16344560;18187620;19240061;19380743;21360678;21890473;21906983;21963094;21987572;22505724;24457600;24816145 79861 A6NHL2 ABBA01034782;AK025318;AK296616;AL683826;AMYH02022041;BC098247;BC099716;BC105634;CH471072;DA890426;NM_001171864;NM_024803 A6NHL2;AAH98247;AAH99716;AAI05635;BAB15110;BAG59224;EAW86447;NP_001165335;NP_079079 Hs.163079 1660910;1717447;1721727;2168101 G59728;RH122226;WI-17065;Z94585 FLJ21665;MGC119347;MGC119349 OTTHUMP00000019000;OTTHUMP00000216159;tubulin alpha chain-like 3 protein-coding ENSG00000178462 HGNC:23534 08640 VALIDATED 1344170 TUBA4A tubulin, alpha 4a Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 2 2 2 q35 213884708 213888345 - 220114433 220119330 - 219249711 219254608 - 6480464;6907045 10037711;10191277;10908577;10942575;11076968;11121746;11146551;11163133;11166179;11278895;11563969;11942621;11953448;11964161;12024216;12052837;12054644;12087096;12134159;12221128;12353262;12377379;12477932;12482968;12486001;12620231;12639940;12639963;12716939;12749852;12852856;12963086;14594945;14630798;14634002;14697242;14702039;15103018;15129282;15184364;15324660;15331610;15342556;15345747;15489334;15592455;15659558;15691386;15698476;15934946;16039987;16148047;16159877;16169070;16257120;16327313;16455083;16462731;1657993;16799092;17314511;17360745;17620599;18029348;18391951;18400243;18613978;19156129;19199708;19850743;20473970;20546612;20639865;20668689;20686780;20972266;21080425;21139048;21145461;21150319;21167302;21525035;21565611;21800051;21890473;21906983;21942715;21963094;21987572;22053931;22174317;22360420;22505724;22863883;22939629;23000965;23125841;23443559;23463506;23667531;23826228;23956138;24244333;24251416;24268707;24332808;24556679;24583282;24816145;25015289;25027693;3029670;3785200;3839072;6457647;7651436;7744867;7790358;7878030;8294455;8325901;8530437;8566014;8617742;8631991;8856662;9265649;9593747;9722999;9885248;9922135 7277 C9JDL2;C9JDS9;C9JEV8;C9JJQ8;C9JQ00;P68366 ABBA01023845;AC068946;AK054731;AK299958;AMYH02005820;AY895018;BC009238;BC018854;BP346611;BT006731;CH471063;NG_029913;NM_001278552;NM_006000;X06956;XM_005246832 AAH09238;AAP35377;AAW65371;ABM84750;BAG51418;BAH13182;CAA30026;EAW70718;EAW70719;NP_001265481;NP_005991;P68366;XP_005246889 Hs.75318 1741511;1797006;5023351 GDB:181260;RH78682;TUBA1__1214 FLJ30169;H2-ALPHA;TUBA1 OTTHUMP00000164167;OTTHUMP00000165869;OTTHUMP00000165870;OTTHUMP00000165871;OTTHUMP00000205871;alpha-tubulin 1;testis-specific alpha-tubulin;tubulin H2-alpha;tubulin alpha-1 chain;tubulin alpha-4A chain;tubulin, alpha 1 (testis specific) APPROVED protein-coding ENSG00000127824 HGNC:12407 01851 191110 REVIEWED 1352677 TUBA8 tubulin, alpha 8 This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 22 22 22 q11.1 2212521 2233563 + 18593453 18614498 + 18110687 18131731 + 1580863;6480464;6907045;7240710;8699517;8554872 10591208;10772959;10840040;10908577;11146551;11953448;12477932;12486001;14702039;15103018;15331610;15461802;15489334;15691386;15698476;16148047;16327313;16344560;16380905;17620599;17643375;18976975;19156129;19380743;19896110;19913121;20466094;20628086;20639865;20972266;21139048;21167302;21872825;21890473;21906983;21963094;21987572;22053931;22174317;22505724;23246001;23463506;23703321;23826228;24639526;24816145;7651436;9885248 51807 C9J2C0;C9K0S6;Q9NY65;V9GZ17 ABBA01001420;ABBA01001421;AC008079;AC016027;AJ245922;AK056947;AK315316;AMYH02038020;BC074827;BC104845;BX537702;CH471193;CR456600;DA059342;KF510572;NG_023429;NM_001193414;NM_018943 AAH74827;AAI04846;BAG37719;BAG51831;CAB88036;CAD97815;CAG30486;CAK54631;CAK54930;EAW57788;EAW57789;NP_001180343;NP_061816;Q9NY65 Hs.137400 1668054;1688376;2107729;2112406 D22S1608;D22S981E;RH48663;TUBA8__5161 TUBAL2 OTTHUMP00000196216;OTTHUMP00000196217;OTTHUMP00000196246;alpha-tubulin 8;tubulin alpha chain-like 2;tubulin alpha-8 chain;tubulin, alpha-like 2 APPROVED protein-coding ENSG00000183785 HGNC:12410 05763 605742;613180 REVIEWED 1342822 TUBAP tubulin, alpha pseudogene 21 21 21 q21.1 9962233 9963963 - 24779812 24781542 - 23407492 23409222 - 10830953;20125088 54016 ABBA01057189;AMYH02037624;AP000459;NG_000900 pseudo HGNC:12411 INFERRED 1347988 TUBAP2 tubulin, alpha pseudogene 2 11 11 11 q14.3 87316535 87317880 + 90015728 90017336 + 90282560 90284168 + 22108332 399942;79259 ABBA01040071;AMYH02025313;AP002364;NG_029287 1663981;1722509 D12S1921;G60179 pseudo HGNC:14531 INFERRED 2902967 TUBB1P1 tubulin, beta 1 class VI pseudogene 1 Y Y q11.222 20548467 20551302 + 18386581 18389416 + 11731935;12815422;9847074 349448 AC007241;AF355114;NG_004636 APPROVED pseudo HGNC:23982 VALIDATED 3566506 TUBB1P2 tubulin, beta 1 class VI pseudogene 2 Y Y q11.221 19628476 19631311 - 17516596 17519431 - 12815422;9847074 140004 AC015978;NG_004636 APPROVED pseudo HGNC:23981 VALIDATED 1345439 TUBB1 tubulin, beta 1 class VI This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010] 20 20 20 q13.32 54334730 54342130 + 57594309 57601709 + 59019254 59026654 + 1580863;6480464;6907045;7240710;8554872;8699517 10908577;11780052;11790298;12477932;12486001;12665801;12777385;12840015;14583623;15304323;15315966;15331610;15489334;15556606;15691386;15698476;15956286;16095531;16216085;16526095;17488662;17707232;17993481;18029348;18806873;18849486;19074767;19132255;19388931;19805454;19996274;20103599;20191564;20473970;20532885;20639865;20972266;21110914;21145461;21309084;21384078;21890473;21906983;21987572;22139419;22360420;22423221;22505724;22805305;22939629;23000965;23443559;23826228;24140708;24244333;24816145;3782288 81027 Q9H4B7 ABBA01005967;AJ292757;AL109840;AMYH02037379;BC033679;BI821931;CH471077;NG_023424;NM_030773 AAH33679;ADZ15920;CAC16605;EAW75447;NP_110400;Q9H4B7 Hs.303023 1660947;1663102;1664901;1669110;2139075 RH17503;SGC33843;SHGC-33555;STS-H96735;STS-T99531 dJ543J19.4 OTTHUMP00000031411;beta tubulin 1, class VI;class VI beta-tubulin;tubulin beta-1 chain APPROVED protein-coding ENSG00000101162 HGNC:16257 18243 612901;613112 REVIEWED 7207640 TUBB2BP1 tubulin, beta 2B class IIb pseudogene 1 6 6 6 p25.2 4406163 4408840 - 3177273 3179949 - 3177039 3179715 - 100132153 ABBA01048620;AL031963;AMYH02012995;NG_022291 pseudo HGNC:42332 INFERRED 7207542 TUBB3P1 tubulin, beta 3 class III pseudogene 1 6 6 6 q15 90429956 90431538 + 90011445 90013027 + 89301726 89303308 + 100288513 ABBA01040529;AL121833;AMYH02014079;NG_022360;NG_033977 pseudo HGNC:42339 INFERRED 1602407 TUBB2B tubulin, beta 2B class IIb The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010] 6 6 6 p25 4453394 4456867 - 3224495 3227968 - 3224261 3227734 - 6480464;6907045;7240710;8554872;8699517 10772929;12477932;12533264;12606581;14574404;15489334;15691386;15698476;16526095;17207965;18029348;18613117;19165527;19380743;19465910;19996274;20391533;20462248;20639865;20972266;21078624;21110914;21139048;21145461;21360678;21525035;21890473;21900206;21906983;21963094;21987572;22053931;22174317;22268729;22333901;22505724;22591407;22623428;22939629;23000965;23001566;23349634;23361065;23443559;23463506;23826228;24337577;24392928;24816145;25027693;6688039;8619474;9110174 347733 Q9BVA1;Q9UGA2 ABBA01048619;AF035316;AK289433;AK297568;AK308806;AL050056;AL445309;AMYH02012996;BC001352;BC063610;BC127872;BC127874;BG056085;BT019930;BX419454;CH471087;CR456788;NG_016715;NM_178012 AAB88188;AAH01352;AAH63610;AAI27873;AAI27875;AAV38733;ADQ32387;BAF82122;BAH12617;CAB43252;CAG33069;EAW55125;EAW55126;EAW55127;EAW55128;NP_821080;Q9BVA1 Hs.300701 1644536;1794476 D6S1785;PMC314434P1 DKFZp566F223;FLJ98847;MGC8685;RP11-506K6.1;bA506K6.1 OTTHUMP00000015964;PMGYSA;TUBB-PARALOG;class II beta-tubulin isotype;class IIb beta-tubulin;tubulin beta-2B chain;tubulin, beta polypeptide paralog APPROVED protein-coding ENSG00000137285 HGNC:30829 14707 610031;612850 REVIEWED 7207543 TUBB3P2 tubulin, beta 3 class III pseudogene 2 7 7 7 q33 129157073 129157369 - 134419693 134419831 - 134734942 134735080 - 12690205 100130187 ABBA01001111;AC083874;AMYH02016809;CH236950;NG_032092 EAL24066 pseudo HGNC:42181 INFERRED 7207629 TUBB4AP1 tubulin, beta 4A class IVa pseudogene 1 X X X q25 123081442 123082772 + 122695493 122696823 + 123561548 123563471 + 16489141 402422 ABBA01036344;ABBA01036345;AL030996;AMYH02040400;NG_022697 pseudo HGNC:42340 INFERRED 1347978 TUBB2A tubulin, beta 2A class IIa ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); structural constituent of cytoskeleton (inferred); INVOLVED IN 'de novo' posttranslational protein folding (inferred); cellular protein metabolic process (inferred); GTP catabolic process (inferred); PARTICIPATES IN pathogenic Escherichia coli infection pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; microtubule; nucleus; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine 6 6 6 p25 4382770 4386674 - 3153900 3157783 - 3153666 3157549 - 1580863;6480464;6907045;8554872 10022909;10191277;10547355;10722852;10908577;11120798;11278895;11532003;11749959;11870213;11964161;12024216;12052837;12064592;12134159;12209967;12211114;12214803;12353262;12477932;12482968;12486001;12639940;12639963;12716939;12840015;12855424;12861402;12872123;12884273;12963086;12963728;12966166;14574404;14583623;14594945;14603253;14634002;14760703;15082789;15121898;15188402;15231747;15304323;15324660;15331610;15331635;15489334;15548702;15691386;15698476;1602151;16169070;16196087;1629950;16526095;17043677;17360745;17373842;17573780;17620599;17725712;18029348;19019082;19056867;19167051;19380743;19454010;19805354;20381070;20391533;20473970;20618440;20639865;20972266;21044950;21139048;21145461;21319273;21525035;21565611;21890473;21900206;21906983;21963094;21987572;22053931;22079093;22108332;22174317;22180309;22360420;22449234;22505724;22623428;22718863;22863883;22939629;23000965;23349634;23443559;23463506;23667531;23798571;23826228;23891004;23956138;24255178;24337577;24457600;24654937;24702957;24816145;25027693;3782288;6688039;7556643;7744867;7878030;8103323;8270253;8325901;8462682;8530437;8700896;8706133;8856662;9553134;9581762;9629920;9886087;9922135;9973324 7280 Q13885 ABBA01048621;AK312621;AL031963;AL038778;AMYH02012994;AY159127;BC001194;BC018780;BC127873;BC141924;BC141925;CH471087;CR541958;NM_001069;X79535 AAH01194;AAH18780;AAI41925;AAI41926;AAN85571;ABM83269;ABM86644;BAG35507;CAA56071;CAG46756;EAW55124;NP_001060;Q13885 Hs.654543 1649285;1729103;1851933;2139392;2139394 A002B22;D6S1874;G19889;RH18135;Tubb2 CDCBM5;TUBB;TUBB2;dJ40E16.7 OTTHUMP00000015956;class IIa beta-tubulin;tubulin beta class IIa;tubulin beta-2A chain;tubulin, beta 2;tubulin, beta polypeptide 2 APPROVED protein-coding ENSG00000137267 HGNC:12412 01852 615101;615763 VALIDATED 1606428 TUBB tubulin, beta class I This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014] 6 6 6 p21.33 32286289 32291331 + 30688012 30693199 + 30720380 30725422 + 6480464;6907045;8699517;7240710;8554872 10022909;10191277;10220577;10561216;10722852;11120798;11278895;11504633;11590136;11698390;11750707;11870213;11964161;12090300;12134159;12209587;12353262;12417652;12477932;12482968;12519789;12606581;12620231;12639940;12639963;12716939;12771190;12826311;12852856;12855424;12872123;12884273;12893435;12938929;12963728;12966166;14532270;14594945;14603253;14634002;14760703;15003198;15014504;15047060;15120663;15121898;15129282;15161933;15188402;15304323;15324660;15331635;15489334;15556606;15576338;15592455;15878338;15959508;16027165;16130169;16196087;1629950;16371510;16380805;16455083;16462731;16526095;16702430;16824193;16941085;16944923;17043677;17266347;17360745;17373842;17389232;17488662;17569113;17620599;17869412;17955473;18029348;18214993;18457437;18781797;19019082;19034380;19041431;19167051;19322201;19380743;19394292;19405953;19503101;19545277;19567321;19628478;19738201;19836239;19850743;19851445;19961433;20020773;20067570;20191564;20371770;20391533;20462248;20639865;20677014;20682791;20691906;20797700;20856200;20972266;21044950;21081666;21110914;21139048;21145461;21146485;21151955;21327297;21360678;21382349;21525035;21565611;21575865;21642987;21653684;21778226;21825151;21832049;21881916;21890473;21890626;21906983;21963094;21987572;22053931;22174317;22178446;22268729;22304920;22360420;22505724;22536838;22779921;22797925;22810585;22863883;22939629;22963397;23000965;23061666;23077236;23125841;23128140;23157319;23184937;23190606;23246001;23246003;23285209;23398456;23428871;23443559;23463506;23703321;23798571;23818224;23826228;23956138;24099319;24140708;24161989;24244333;24250222;24275654;24332808;24337577;24556679;24583282;24639526;24657165;24685680;24688049;24714105;24816145;25015289;25027693;3007184;3405308;3782288;6688039;6865944;6893015;6946435;7556643;7744867;8103323;8270253;8530437;8619474;8700896;8895530;9110174;9553134;9581762;9629920;9880513;9886087;9922135;9973324 203068 B4DMJ5;P07437;Q5JP53;Q5ST81;Q5SU16 AB062393;AB088100;AB103606;AB202098;ABBA01038054;AF070561;AF070593;AF070600;AF141349;AK098772;AK297489;AK297638;AK298889;AK302314;AK303227;AK309684;AK316265;AK316316;AL662797;AL662848;AL845353;AMYH02013437;BA000025;BC001002;BC001896;BC001938;BC002347;BC005838;BC007605;BC013374;BC015889;BC019924;BC020946;BC021909;BC029323;BC062532;BC070326;BC103746;BE245819;BQ019614;BU557299;BX248307;BX927283;CH471081;CR759873;CR788240;CR936878;DC353572;DC366174;DC389555;DC405540;DQ457058;EF036509;J00314;NG_034142;NM_001293212;NM_001293213;NM_001293214;NM_001293215;NM_001293216;NM_178014;NR_120608;V00599;Z36874 AAB59507;AAC28642;AAC28650;AAC28654;AAD33873;AAH01896;AAH01938;AAH02347;AAH05838;AAH07605;AAH13374;AAH15889;AAH19924;AAH20946;AAH21909;AAH62532;AAH70326;AAI03747;ABE96641;ABM82668;ABM82754;ABM85846;ABO65095;BAB63321;BAB93480;BAC54932;BAE78618;BAF31267;BAG59907;BAG60010;BAG61001;BAG63652;BAG64314;BAH14636;BAH14687;CAA23844;EAX03322;EAX03323;EAX03324;NP_001280141;NP_001280142;NP_001280143;NP_001280144;NP_001280145;NP_821133;P07437 Hs.636480 CDCBM6;M40;MGC117247;MGC16435;OK/SW-cl.56;TUBB1;TUBB5 OTTHUMP00000029069;OTTHUMP00000164860;beta 5-tubulin;beta Ib tubulin;beta-4 tubulin;beta1-tubulin;class I beta-tubulin;tubulin beta chain;tubulin beta polypeptide;tubulin beta-1 chain;tubulin beta-5 chain;tubulin, beta polypeptide APPROVED protein-coding ENSG00000196230 HGNC:20778 191130;615771 REVIEWED 1347965 TUBB3 tubulin, beta 3 class III This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010] 16 16 16 q24.3 75054835 75067595 + 89988417 90002505 + 89922009 89936097 + 1580863;6480464;6907045;7240710;8554872;8699517 10191277;10908577;12477932;12486001;12789263;12905530;14702039;15203218;15303970;15331610;15489334;15671559;15691386;15698476;16061864;16169070;16196087;16344560;16526095;16675570;16816122;17289895;17360745;17406983;17543088;17620599;17671431;17714470;18029348;18178340;18379434;18435451;18497984;18613978;18645017;18781797;18784752;18946987;18977553;19059912;19074767;19122647;19322201;19360438;19380743;19405953;19454010;19690549;19724850;19828208;19899405;20021611;20074521;20087230;20220512;20301522;20393110;20403547;20406197;20473970;20534991;20587520;20639865;20829227;20868593;20877724;20972266;21044950;21045157;21071418;21110914;21139048;21145461;21163067;21289518;21315408;21520077;21525035;21565611;21586171;21781528;21820201;21890473;21900206;21906983;21963094;21987572;21988832;22159867;22174317;22180309;22209775;22266860;22268729;22337587;22358390;22438565;22502701;22505724;22684772;22740207;22766748;22863883;22939629;23000965;23218766;23349634;23378218;23402259;23443559;23454725;23463506;23532817;23585021;23667531;23703321;23810210;23817083;23826228;23853246;23869586;23941826;23956138;24053422;24113009;24251416;24337577;2461292;24612975;24661907;24706829;24816145;24905733;3459176;7789418;8098743;8125298;8619990;9473684 10381 Q13509;Q53G92 ABBA01014120;ABBA01014121;ABBA01014122;AC092143;AF427491;AK058140;AK122757;AK127418;AK223039;AK292219;AK307201;AK314616;AMYH02032688;AU142509;BC000748;BC001678;BC003021;BC047518;BC064975;CD621827;CH471184;DA054466;NG_027810;NM_001197181;NM_006086;S62643;U47634 AAC52035;AAH00748;AAH01678;AAH03021;AAH47518;AAL28094;BAD96759;BAF84908;BAG37182;BAG53710;EAW66669;EAW66674;EAW66675;NP_001184110;NP_006077;Q13509 Hs.511743 1790381;1792644;2157766;2161677;5014855;5015867 GDB:312714;M73K;PMC156124P3;RH65263;RH65809;SHGC-60611 CDCBM;CDCBM1;CFEOM3;CFEOM3A;FEOM3;MC1R;TUBB4;beta-4 OTTHUMP00000176846;OTTHUMP00000245280;OTTHUMP00000245283;OTTHUMP00000245285;OTTHUMP00000245287;OTTHUMP00000245288;OTTHUMP00000245289;OTTHUMP00000245290;class III beta-tubulin;fibrosis of extraocular muscles, congenital, 3;tubulin beta-3 chain;tubulin beta-4 chain;tubulin beta-III;tubulin, beta, 4 APPROVED protein-coding ENSG00000258947 HGNC:20772 04044 600638;602661;614039 REVIEWED 7207750 TUBB4BP6 tubulin, beta 4B class IVb pseudogene 6 9 121526157 121526623 + 100996306 ABBA01016264;AL589703;AMYH01021683 pseudo HGNC:42336 MODEL 1348861 TUBB4A tubulin, beta 4A class IVa This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014] 19 19 19 p13.3 6434150 6442152 - 6494330 6502595 - 6494319 6502848 - 1580863;6480464;7240710;8699517;8554872 10908577;11076968;11120798;12221128;12477932;12486001;12840015;12852856;14702039;15121898;15188402;15324660;15331610;15489334;15691386;15698476;16196087;16303743;16462731;16526095;16565220;16944923;17360745;17620599;17627938;18029348;18553364;18613978;18781797;19167051;19299461;19773279;20171186;20195357;20473970;20639865;20972266;21110914;21139048;21145461;21151833;21525035;21839816;21890473;21906983;21956287;21963094;21987572;22174317;22266860;22268729;22505724;22586326;22797925;22863883;23000965;23142642;23190606;23246001;23349634;23424103;23443559;23463506;23503679;23582646;23595291;23703321;23826228;23956138;24275654;24337577;24583282;24598712;24785942;24816145;24850488;25027693;25036637;3782288;6462917;6865944;7790358;8432555;8619814;8653701 10382 B4DJ43;M0QX14;M0QY37;M0QY85;M0QYM7;M0QZL7;M0R042;M0R0M1;M0R0X0;M0R1I1;M0R278;M0R2D3;M0R2T4;P04350 ABBA01051458;AC010503;AK075307;AK095202;AK293503;AK295917;AMYH02035354;AMYH02035355;BC006570;BC013683;CH471139;CQ783906;DA265791;DA302559;DC303150;DC314277;DC353527;DC354036;NG_033896;NM_001289123;NM_001289127;NM_001289129;NM_001289130;NM_001289131;NM_006087;X00734 AAH06570;AAH13683;ACE86654;ACE87336;BAG52106;BAG56988;BAG58705;CAA25318;CAF86918;EAW69078;EAW69079;NP_001276052;NP_001276056;NP_001276058;NP_001276059;NP_001276060;NP_006078;P04350 Hs.110837 1792644;1794478;1847296;2135566;2147134 A002C41;G19977;PMC156124P3;PMC314434P2;RH66664 DYT4;HLD6;TUBB4;TUBB5;beta-5 class IVa beta-tubulin;dystonia 4, torsion (autosomal dominant);tubulin 5 beta;tubulin beta-4 chain;tubulin beta-4A chain;tubulin, beta 4;tubulin, beta 4 class IVa;tubulin, beta, 5 APPROVED protein-coding ENSG00000104833 HGNC:20774 04045 128101;602662;612438 REVIEWED 7207590 TUBB4BP7 tubulin, beta 4B class IVb pseudogene 7 6 6 6 q25.2 153952730 153954287 + 153219051 153220608 + 152897916 152899473 + 442271 ABBA01025614;AL133269;AMYH02014746;NG_022377 pseudo HGNC:42337 INFERRED 1601774 TUBB4B tubulin, beta 4B class IVb ENCODES a protein that exhibits double-stranded RNA binding; INVOLVED IN 'de novo' posttranslational protein folding (inferred); cellular component movement (inferred); cellular protein metabolic process (inferred); FOUND IN extracellular vesicular exosome; microtubule; nucleus; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil 9 9 9 q34 110651151 110653744 + 140135711 140138159 + 137241259 137243707 + 6480464 10908577;11076968;11118478;11120798;12037579;12052866;12221128;12477932;12486001;12852856;12927047;14594945;14702039;14760703;15331610;15489334;15634916;15635413;15691386;15698476;15952740;16130169;16169070;16196087;16226712;16462731;16526095;16712791;17081983;17207965;17360745;17620599;17627938;17643375;17955473;18029348;18384219;18613978;18781797;19167051;19380743;19394292;19738201;19996274;20462248;20473970;20639865;20682791;20872967;20972266;21044950;21080425;21081666;21110914;21139048;21145461;21319273;21360678;21525035;21565611;21890473;21906983;21942715;21963094;21987572;21988832;22053931;22108332;22145905;22174317;22264600;22337587;22360420;22505724;22623428;22797925;22810585;22863883;22939629;22963397;23000965;23042605;23184937;23246001;23398456;23443559;23455922;23463506;23703321;23826228;23956138;24244333;24250222;24332808;24337577;24457600;24583282;2461292;24657165;24816145;25015289;25027693;3782288;3999141;7790358 10383 P68371;Q96HX0 ABBA01022752;AK000560;AK021414;AK026167;AK026594;AK026609;AK098686;AK298087;AMYH02021928;AY167990;BC001911;BC002783;BC002885;BC004188;BC007889;BC008006;BC012835;BC019359;BC019829;BC024038;BC029529;BC039175;BC071889;BX255925;BX648521;CB139156;CH471090;NM_006088;X02344 AAH01911;AAH02783;AAH02885;AAH04188;AAH07889;AAH08006;AAH12835;AAH19359;AAH19829;AAH24038;AAH29529;AAH39175;AAH71889;AAN87335;ADQ31779;BAG51031;BAG60373;CAA26203;EAW88368;EAW88369;EAW88370;NP_006079;P68371 Hs.433615 1730127;2155579;2158314;2191697;5024607 D9S188E;DXS7003E;MARC_5253-5254:996690193:1;RH71271;RH93426 Beta2;TUBB2;TUBB2C OTTHUMP00000162590;class IVb beta tubulin;class IVb beta-tubulin;tubulin beta-2 chain;tubulin beta-2C chain;tubulin beta-4B chain;tubulin, beta 2C;tubulin, beta, 2 APPROVED protein-coding ENSG00000188229 HGNC:20771 04043 602660 VALIDATED 7207587 TUBB6P1 tubulin, beta 6 class V pseudogene 1 1 1 1 37128199 37128781 - 38849519 38850102 - 38383847 38384430 - 100418964 ABBA01023246;AL513479;AMYH02000814;NG_026927 pseudo HGNC:42342 INFERRED 1343714 TUBB6 tubulin, beta 6 class V ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); structural constituent of cytoskeleton (inferred); INVOLVED IN 'de novo' posttranslational protein folding (inferred); cellular protein metabolic process (inferred); GTP catabolic process (inferred); PARTICIPATES IN pathogenic Escherichia coli infection pathway; FOUND IN extracellular vesicular exosome; microtubule; nucleus; INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 18 18 18 p11.21 12191548 12207217 + 12308218 12326568 + 12308240 12326569 + 737633;6480464;6907045 12477932 10908577;12486001;14702039;15331610;15489334;16313188;16526095;17266347;18029348;18613117;19056867;19380743;19394292;19738201;20191564;20639865;20972266;21110914;21145461;21525035;21565611;21890473;21906983;21963094;21987572;22268729;22337587;22438565;22505724;22863883;22903939;22939629;23000965;23042605;23349634;23438482;23463506;23826228;23956138;24173717;24244333;24255178;24275654;24337577;24654937;24816145;25027693;25036637;84617 84617 B4E386;K7EJ64;K7EJZ4;K7EK43;K7EL29;K7EN98;K7EPE5;K7EQT3;K7ERA8;K7ES63;K7ESM5;K7ESQ3;Q9BUF5 ABBA01074014;ABBA01074015;ABBA01074016;AK001295;AK022340;AK092677;AK098440;AK298196;AK304616;AK311364;AMYH02034327;AP005264;BC002654;BC111374;CH471113;KF456357;NM_032525;XM_005258159 AAH02654;AAI11375;ABM84412;ABM87393;BAB14016;BAG50888;BAG52593;BAG60466;BAG65398;EAX01553;EAX01554;NP_115914;Q9BUF5;XP_005258216 Hs.193491;Hs.744066 1689969;1792644;1794480;5014855 PMC156124P3;PMC314434P3;RH65263;RH8152 HsT1601;MGC132410;MGC4083;TUBB-5 OTTHUMP00000162473;class V beta-tubulin;tubulin beta MGC4083;tubulin beta class V;tubulin beta-6 chain APPROVED protein-coding ENSG00000176014 HGNC:20776 11349 615103 PROVISIONAL 7207647 TUBB8P1 tubulin beta 8 class VIII pseudogene 1 9 9 9 21750011 21750707 - 21811650 21812346 - 21811651 21812347 - 100418937 ABBA01065175;AL359922;AMYH02019289;NG_023793;NG_032650 1703802;1710004 SHGC-78937;SHGC-82272 pseudo HGNC:42182 INFERRED 7207642 TUBB8P10 tubulin, beta 8 class VIII pseudogene 10 1 1 q42.13 227680552 227682527 - 227492851 227494826 - 391171 ABBA01009612;AL451054;AMYH02002829;NG_022755 1781560 SHGC-145612 pseudo HGNC:42348 INFERRED 7207540 TUBB8P11 tubulin, beta 8 class VIII pseudogene 11 1 1 1 p36.33 1782119 1783342 - 808671 809894 + 873291 874514 + 388579 ABBA01016000;AL669831;AMYH02000068;NG_005336 pseudo HGNC:32337 INFERRED 7207648 TUBB8P3 tubulin beta 8 class VIII pseudogene 3 4 4 4 q25 110292183 110292960 + 112998755 112999532 + 112077599 112078376 + 132719 ABBA01063812;AC093663;AMYH02009931;NG_022071 pseudo HGNC:42338 INFERRED 1605531 TUBB8 tubulin, beta 8 class VIII ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); structural constituent of cytoskeleton (inferred); INVOLVED IN GTP catabolic process (inferred); microtubule-based process (inferred); protein polymerization (inferred); PARTICIPATES IN pathogenic Escherichia coli infection pathway; FOUND IN extracellular vesicular exosome; microtubule; INTERACTS WITH thapsigargin; tunicamycin; 17alpha-ethynylestradiol (ortholog) 10 10 10 p15.3 36106 38782 - 92828 95178 - 46888 49238 - 6907045;6480464 10828619;10908577;11731935;12477932;12486001;16196087;16526095;17342744;18029348;19056867;20639865;20972266;21110914;21525035;21565611;21890473;21906983;21963094;21987572;22505724;22863883;23000965;23246001;23349634;23667531;23826228;24337577;24816145 347688 Q3ZCM7;Q5SQY0 ABBA01035280;AF355127;AL713922;AMYH02021964;BC101270;BC101271;CH471072;NM_177987 AAI01271;AAI01272;AAI56320;AAI57067;AAL32434;EAW86544;EAW86545;EAW86546;NP_817124;Q3ZCM7 Hs.532659 5024607 RH93426 FLJ40100;RP11-631M21.2;bA631M21.2 HSA10p15 beta-tubulin 4Q;OTTHUMP00000018932;OTTHUMP00000018933;OTTHUMP00000215934;OTTHUMP00000215935;class VIII beta-tubulin;tubulin beta-8 chain APPROVED protein-coding ENSG00000261456 HGNC:20773 18244 VALIDATED 7207588 TUBB8P4 tubulin, beta 8 class VIII pseudogene 4 12 12 12 p11.1 14126241 14128422 - 34317708 34319889 - 34164773 34166954 - 11731935 260338 ABBA01031683;AC140847;AF355111;AMYH02026320;NG_002343 pseudo HGNC:42185 INFERRED 7207531 TUBB8P5 tubulin, beta 8 class VIII pseudogene 5 12 12 12 p11 37399780 37401979 + 38595369 38597732 + 38201567 38203930 + 11731935 121014 ABBA01049519;AC117372;AF355113;AMYH02026324;NG_002327 pseudo HGNC:42186 INFERRED 7207586 TUBB8P7 tubulin, beta 8 class VIII pseudogene 7 16 16 16 q24.3 75225426 75226909 + 90160431 90162597 + 90094023 90096189 + 11731935 197331 ABBA01014112;AC133919;AF355125;AMYH02032692;NG_002334 pseudo HGNC:42345 INFERRED 7207707 TUBB8P6 tubulin, beta 8 class VIII pseudogene 6 1 1 1 q43 215475591 215478781 + 242220387 242223748 + 242057085 242060446 + 11731935 200149 ABBA01033270;AF355107;AMYH02003045;BX571673;NG_002335 pseudo HGNC:42343 INFERRED 7207550 TUBB4BP2 tubulin, beta 4B class IVb pseudogene 2 9 9 9 34040941 34041734 - 34109172 34109965 - 34109174 34109967 - 100418974 ABBA01065022;AL354989;AMYH02019437;NG_023799 pseudo HGNC:42183 INFERRED 7207544 TUBB8P8 tubulin, beta 8 class VIII pseudogene 8 3 3 q29 196453111 196456642 + 197846650 197847700 + 728247 ABBA01007555;AC240720;AMYH02008530 pseudo HGNC:42346 MODEL 7207539 TUBB8P9 tubulin, beta 8 class VIII pseudogene 9 1 1 1 q42.13 200885727 200887849 + 227693883 227696170 + 227506182 227508469 + 11731935 255208 ABBA01009612;AF355105;AL451054;AMYH02002829;NG_002338 1781560 SHGC-145612 pseudo HGNC:42347 INFERRED 1343237 TUBBP1 tubulin, beta pseudogene 1 INTERACTS WITH N-acetyl-beta-D-glucosamine; N-acetyl-D-glucosamine 8 8 8 p12 29168098 29169740 + 30209396 30211038 + 30351880 30353522 + 6480464 7070533 92755 ABBA01023670;AC109329;AMYH02017714;J00317;NG_001206 2142958 D6S2041 tubulin, beta polypeptide pseudogene 1 pseudo HGNC:12414 INFERRED 1348067 TUBBP2 tubulin, beta pseudogene 2 INTERACTS WITH N-acetyl-beta-D-glucosamine; N-acetyl-D-glucosamine 13 13 13 q14.11 23015410 23016875 - 41957824 41959291 - 41383688 41385155 - 6480464 1685473 647000 ABBA01021272;AL731858;AMYH02027919;NG_011428 1651897 SGC34396 pseudo HGNC:12415 INFERRED 7207751 TUBBP10 tubulin, beta class I pseudogene 10 1 1 1 51748374 51749671 + 53460398 53461695 + 52994726 52996023 + 100418902 ABBA01074748;AL445183;AMYH02001033;NG_027095 pseudo HGNC:42344 INFERRED 1344969 TUBB7P tubulin, beta 7, pseudogene INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; thapsigargin 4 4 4 q35 188198204 188200552 - 190903490 190906024 - 189982335 189984869 - 1580863;6480464 10512680;10828619;11731935;12477932;16196087;17266347;18781797;21906983;22939629;23246001;23463506;24244333 56604 ABBA01015938;AF146191;AF355124;AMYH02010728;CH471056;NG_029424;U83110;U83668 AAB41497;AAB48456;AAI40319;AAI46476;EAX04599 Hs.351544 1676300;5024607 RH80853;RH93426 TUBB4Q putative tubulin beta-4q chain;tubulin, beta polypeptide 4, member Q APPROVED pseudo HGNC:12413 15588 INFERRED 1349884 TUBBP3 tubulin, beta pseudogene 3 14 14 14 q21.2 23604453 23605334 + 43744171 43745052 + 43274968 43275849 + 326106 ABBA01018025;AL445383;AMYH02029086;NG_002529 pseudo HGNC:18192 INFERRED 1352539 TUBBP4 tubulin, beta pseudogene 4 9 9 p13.3 34109197 34109451 + 34109199 34109453 + 493816 ABBA01065022;AL354989;AMYH02019437;NG_032183 bA537H15.5 APPROVED pseudo HGNC:19913 INFERRED 1346990 TUBBP5 tubulin, beta pseudogene 5 INTERACTS WITH quercetin 3 9 9 q34.3 196455566 196456807 + 141044565 141071885 + 138150113 138177433 + 6480464 11731935;21906983;23349634;24816145 643224 ABBA01022796;ABBA01022797;AF355123;AK308459;AL591424;AMYH02021952;NR_027156 Hs.551805 2176263 WI-13785 tubulin, beta polypeptide pseudogene 5 pseudo HGNC:23674 VALIDATED 7207641 TUBBP6 tubulin, beta class I pseudogene 6 7 7 7 p11.2 55816247 55817578 + 55713312 55714643 + 55645619 55646950 + 442308 ABBA01011859;AC099681;AMYH02015736;NG_022946 pseudo HGNC:42175 INFERRED 7207693 TUBBP7 tubulin, beta class I pseudogene 7 8 8 97138842 97140030 - 96126614 96127802 - 100533620 ABBA01037490;AC007992;AMYH02018453;NG_028884 pseudo HGNC:42176 INFERRED 7207541 TUBBP9 tubulin, beta class I pseudogene 9 6 6 6 p21.2 41513786 41521175 + 39960554 39967943 + 39992815 40000204 + 442210 ABBA01050772;AL136089;AMYH02013595;CH471081;FO393411;NG_028263 EAX04003 pseudo HGNC:42178 INFERRED 1314442 TUBE1 tubulin, epsilon 1 This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Jan 2009] 6 6 6 q21 113133162 113150058 - 112391860 112408751 - 112070657 112087548 - 1580863;6480464;8554872 10620804;12477932;12510196;15489334;15691386;15698476;16344560;19851462;20508983;21906983;23463506;23826228;24816145 51175 Q9UJT0;S4R3K3;S4R424 ABBA01026079;ABBA01026080;AF201334;AK026242;AK126191;AMYH02014311;BC025405;BC031101;CA411886;CH471051;DA160210;NM_016262;Z99289 AAF09585;AAH25405;AAH31101;ABM82429;ABM85621;EAW48272;NP_057346;Q9UJT0 Hs.34851 1698600;1698762;1709042;1710948;5024413 L17877;RH102853;RH102944;SHGC-79592;SHGC-84449 FLJ22589;FLJ44203;TUBE;dJ142L7.2 OTTHUMP00000017033;epsilon-tubulin;tubulin epsilon chain APPROVED protein-coding ENSG00000074935 HGNC:20775 06298 607345 REVIEWED 1349876 TUBG1P tubulin, gamma 1 pseudogene 7 7 7 p13 43948101 43949716 + 43958236 43959851 + 43918637 43920252 + 10903841;9847074 442673 ABBA01058198;AC004985;AMYH02015614;CH236951;NG_009488 pseudo HGNC:12418 INFERRED 1323696 TUBD1 tubulin, delta 1 ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); structural constituent of cytoskeleton (inferred); INVOLVED IN cell differentiation (inferred); GTP catabolic process (inferred); microtubule-based process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 5-fluorouracil 17 17 17 q23.1 54400352 54433812 - 57936840 57970306 - 59859479 59892945 - 1580863;6480464;8554872 10620804;10753753;12047234;12052866;12477932;12549820;14702039;15081367;15489334;15691386;15698476;16344560;18029348;19913121;20508983;20628086;21906983;21987572;23128233;23251661;23826228;24250222 51174 K7EKE2;K7EMW6;K7EPQ0;K7EQN9;Q9UJT1 AB030837;AB031044;AB031045;ABBA01003178;ABBA01003179;ABBA01003180;AC004686;AC244499;AC245929;AF201333;AK022771;AK024096;AK024741;AK298492;AK301312;AK315172;BC000258;BG682935;BX119803;CH471109;DA607129;KF456298;NM_001193609;NM_001193610;NM_001193611;NM_001193612;NM_001193613;NM_016261;XM_005257425;XM_005257426;XM_005257427 AAF09584;AAH00258;BAB14825;BAD16590;BAD83580;BAD83581;BAG51113;BAG60700;BAG62863;EAW94385;EAW94386;EAW94387;EAW94388;EAW94389;NP_001180538;NP_001180539;NP_001180540;NP_001180541;NP_001180542;NP_057345;Q9UJT1;XP_005257482;XP_005257483;XP_005257484 Hs.463638 1691742;2110007;2116779;5022200;5022651 D11S2921;G42217;L18426;SHGC-30060;TUBD1_9680 FLJ12709;TUBD delta-tubulin;tubulin delta chain protein-coding ENSG00000108423 HGNC:16811 06297 607344 VALIDATED 1603663 TUBGCP4 tubulin, gamma complex associated protein 4 INVOLVED IN G2/M transition of mitotic cell cycle (inferred); microtubule cytoskeleton organization (inferred); mitotic cell cycle (inferred); FOUND IN centrosome; membrane; INTERACTS WITH cobalt dichloride; coumestrol; phenobarbital 15 15 15 q15 20433964 20468909 + 43663257 43698258 + 43371059 43407095 + 6480464 10562286;11694571;11956313;12221128;12477932;12852856;14702039;15489334;16189514;16344560;18029348;19060904;19531213;19946888;20360068;20508983;21135143;21139048;21890473;21900206;21906983;21963094;21987572;22797925;22939629;23443559;24250222;24722188;8838651 27229 H3BN56;H3BNL9;H3BPU4;H3BQ12;H3BQY4;H3BS59;Q9BVR6;Q9UGJ1 ABBA01038348;AC018924;AJ249677;AK001639;AK026551;AK027703;AK127306;AMYH02030304;AMYH02030305;AX877329;BC000966;BC009870;BC012801;CH471125;DA396753;NM_001286414;NM_014444;XR_243092 AAH00966;AAH09870;AAH12801;ABM87016;ABW03851;BAA91802;BAG51368;CAB62539;CAE89676;EAW92603;NP_001273343;NP_055259;Q9UGJ1 Hs.584887 1677482;1776518;2147802;5015619;5015861;5015959;5019635;5022200;5022578;5037552;7185938 A005S05;D10S16;D10S2448;D11S3114;D1S1423;D8S2279;G32283;L18426;RH80324;SHGC-33272 76P;FLJ14797;GCP-4;GCP4;Grip76;h76p;hGCP4;hGrip76 gamma tubulin ring complex protein (76p gene);gamma-ring complex protein 76 kDa;gamma-tubulin complex component 4 protein-coding HGNC:16691 10616 609610 VALIDATED 1317114 TUBGCP6 tubulin, gamma complex associated protein 6 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] 22 22 22 q13.31-q13.33 34531029 34558302 - 50656118 50683453 - 50217689 50245024 - 1580863;6480464;8699517;7240710;8554872 10591208;11258795;11694571;11956313;12221128;12477932;15146197;15302935;15489334;17182859;19946888;20205591;20360068;21135143;21139048;21906983;22279524;22302995;23251661;23443559;24023788;24816145;8838651 85378 E7EQL8;H7C2H5;H7C358;Q96RT7 AB051456;ABBA01011375;ABBA01011376;ABBA01011377;ABBA01011378;ABBA01011379;AF272887;AK000636;AK310419;AL022328;AL137665;AL832617;AMYH02038600;AMYH02038601;BC004127;BC023573;BC035709;BC042165;BC113849;BC114457;BC127614;BC144488;BC144489;BC150613;BC151209;CH471138;CN333235;NG_032160;NM_020461;XR_244458;XR_430483 AAH23573;AAH42165;AAI14458;AAI27615;AAI44489;AAI50614;AAI51210;AAK82968;BAB33339;EAW73507;EAW73508;EAW73509;EAW73510;NP_065194;Q96RT7 Hs.336431 2155175;5015861;5016929;5037552;7185938 D10S16;D8S2279;RH91979;WI-14130 GCP-6;GCP6;MCCRP;MCPHCR OTTHUMP00000028553;gamma-tubulin complex component 6 APPROVED protein-coding ENSG00000128159 HGNC:18127 15589 251270;610053 REVIEWED 1320019 TUBGCP2 tubulin, gamma complex associated protein 2 INVOLVED IN G2/M transition of mitotic cell cycle (inferred); microtubule cytoskeleton organization (inferred); microtubule nucleation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; membrane; INTERACTS WITH copper(2+) sulfate; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 10 10 10 q26.3 128394113 128423294 + 135092134 135125841 - 133278630 133312337 - 1580863;6480464;8554872 11694571;11956313;12221128;12477932;14702039;14759258;15489334;15592455;16980960;17314511;18029348;19299467;19531213;19615732;19946888;20360068;21135143;21139048;21890473;21906983;21963094;22114354;23000965;23314748;23349634;23383273;23443559;23886939;24163370;24255178;24816145;25027693;7566098;8125298;8838651;9566967 10844 B3KTU7;F2Z2B9;Q53EQ3;Q9BSJ2;R4GMM4 AA377890;ABBA01006209;AF042379;AK092113;AK096087;AK128430;AK223586;AK297251;AK299564;AK314520;AL360181;AL592071;AMYH02024090;BC005011;BC010373;BC052368;BC093770;BC111957;BC143247;CH471211;CK818507;DC388353;NM_001256617;NM_001256618;NM_006659;NR_046330;XM_006717596 AAC39728;AAH52368;AAH93770;AAI11958;AAI43248;BAD97306;BAG52483;BAG53209;BAG59730;BAG61507;EAW61327;EAW61328;NP_001243546;NP_001243547;NP_006650;Q9BSJ2;XP_006717659 Hs.523370 1682501;1740173;1855392;5015619;5015881 D10S1634;D11S3114;GDB:335751;RH91135;WI-14226 FLJ46573;GCP-2;GCP2;Grip103;MGC138162;SPBC97;Spc97p;h103p;hGCP2;hGrip103;hSpc97 OTTHUMP00000020808;OTTHUMP00000020809;gamma-ring complex protein 103 kDa;gamma-tubulin complex component 2;gamma-tubulin complex protein 2;spindle pole body protein Spc97 homolog protein-coding ENSG00000130640 HGNC:18599 18245 VALIDATED 1351371 TUFMP1 Tu translation elongation factor, mitochondrial pseudogene 1 17 17 17 q11.1 22274964 22276595 - 25409518 25411149 - 27082492 27084123 - 9545647 645668 ABBA01015073;AC069061;AMYH02033205;NG_006578;Y11796 TUFML APPROVED pseudo HGNC:12421 INFERRED 1313927 TUBGCP3 tubulin, gamma complex associated protein 3 ENCODES a protein that exhibits gamma-tubulin binding; INVOLVED IN G2/M transition of mitotic cell cycle (inferred); mitotic cell cycle (inferred); FOUND IN centriole; centrosome; cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 13 13 13 q34 93964643 94067798 - 113139319 113242494 - 112485005 112588185 - 1580863;6480464 11694571;11956313;12221128;12477932;15057823;15342556;15489334;17959831;19299467;19322201;19531213;19615732;19946888;20360068;20379614;20858683;21135143;21139048;21890473;21900206;21906983;21963094;23000965;23443559;23886939;24163370;24816145;7876350;8838651;9138452;9566967;9566969 10426 B4DYP7;Q96CW5 AA720688;ABBA01019846;ABBA01019847;AF042378;AJ003061;AJ003062;AK302537;AK314785;AL139384;AL160033;AMYH02028727;AMYH02028728;BC007763;BC013781;BC046634;BP381545;BT009772;CH471085;L13800;L13801;NM_001286277;NM_001286278;NM_001286279;NM_006322;XM_005268293;XR_245841 AAC39727;AAH07763;AAH13781;AAH46634;AAP88774;ABM81998;ABM85181;BAG37319;BAG63809;CAA05832;CAA05833;EAX09163;EAX09164;EAX09165;EAX09166;NP_001273206;NP_001273207;NP_001273208;NP_006313;Q96CW5;XP_005268350 Hs.224152 1671514;1738365;1766333;1855539 D13S503E;RH44376;RH45555;SHGC-149674 104p;GCP-3;GCP3;Grip104;SPBC98;Spc98;Spc98p;h104p;hGCP3;hGrip104;hSpc98 OTTHUMP00000018726;OTTHUMP00000018727;gamma-ring complex protein 104 kDa;gamma-tubulin complex component 3;spindle pole body protein Spc98 homolog protein-coding ENSG00000126216 HGNC:18598 10289 VALIDATED 732715 TUBG1 tubulin, gamma 1 This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [provided by RefSeq, Jan 2009] 17 17 17 q21 11 1023 + 40761358 40767256 + 42609340 42615238 + 1580863;1626306;6480464;8699517;7240710;8554872 15912881 10191277;10225950;10444072;10562286;10840040;10903841;11003675;11076968;11082048;11163258;11237715;11691781;11790298;11840567;11942621;11950600;11956313;12221128;12361598;12477932;12639940;12771190;12852856;12928331;14594945;14603253;14676191;14767062;14970193;15280373;15367667;15456882;15489334;15514162;15670215;15691386;15698476;15917813;16043481;16322234;16344560;16462731;16464125;16481748;16714300;17102634;17106265;17286961;17314511;17350042;17360745;17406983;17891179;18316369;18621829;1904010;19167333;19215229;19244116;19299467;19509060;19543530;19648910;20056645;20224777;20360068;20371770;20508983;20603326;21135143;21139048;21465471;21473851;21795687;21890473;21906983;21951856;21963094;22053931;22114354;22262852;22268729;22806905;22818914;22833046;22863883;22939629;23000965;23443559;23469015;23667531;23826228;23966160;24163370;24250222;24289923;24556679;24816145;7490091;7592789;7790358;8838651;9566969;9789027 7283 K7EIS0;K7EKE5;P23258 ABBA01006419;AC067852;AK313339;AMYH02033432;BC000619;BG167819;BT019931;CR407642;DB027894;DB028144;M61764;NG_033886;NM_001070 AAA52620;AAH00619;AAV38734;ABM82851;ABM86036;BAG36143;CAG28570;NP_001061;P23258 Hs.279669 1732255;1733796;2108617;2110009;2157497;2159109;2168264 D17S1147;D17S1320;SHGC-64290;STS-N92854;TUBG1_8698;TUBG2_9537;WI-18977 CDCBM4;GCP-1;TUBG;TUBGCP1 gamma-1-tubulin;gamma-tubulin complex component 1;tubulin gamma-1 chain;tubulin, gamma polypeptide APPROVED protein-coding ENSG00000131462 HGNC:12417 01853 191135;615412 REVIEWED 1605999 TUG1 taurine up-regulated 1 (non-protein coding) INTERACTS WITH cobalt dichloride; coumestrol; elemental selenium 22 22 22 q12.2 15165777 15175526 + 31365634 31375381 + 30969648 30979395 + 6480464 12477932;14702039;15146197;15196694;15461802;15797018;16712791;19191220;22078878;22202438;22487937;22961206;23725133;23801869;24055035;24381249;24393600;8631027;8889548 55000 AB073661;ABBA01055315;AC004542;AI186830;AK000625;AK000749;AK056480;AK057695;AMYH02038226;BC037986;BM461799;BM719085;BM806212;BQ000368;BU540086;CB127883;CD556251;CN395940;CR456447;HG512219;NR_002323;NR_110492;NR_110493 Hs.554829 1680162;1738993;1774786;1776352;2127545;2148760;2161564;2162384;2184727 A006X44;D22S1078;G31567;RH98260;SHGC-30302;SHGC-35762;SHGC-36637;SHGC-57983;SHGC-59930 FLJ20618;LINC00080;MGC46067;NCRNA00080;TI-227H APPROVED ncrna HGNC:26066 08629 614971 VALIDATED 1312280 TUBGCP5 tubulin, gamma complex associated protein 5 ENCODES a protein that exhibits microtubule binding; INVOLVED IN microtubule nucleation; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; cytoplasm; gamma-tubulin ring complex; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine 15 15 15 q11.2 1506523 1547034 - 22833395 22873891 + 22999177 23039673 - 1580863;6480464;8554872 11572484;11694571;11956313;12221128;12477932;14508708;14702039;15342556;15489334;16196087;16982806;18316369;20360068;21135143;21890473;21906983;21963094;23443559;8838651 114791 Q96RT8 AB067486;ABBA01040254;ABBA01040255;ABBA01040256;AC116166;AC135069;AC225825;AF272884;AK023934;AK056416;AK289859;AK310897;AMYH02030029;BC039271;BC046182;BC071560;BP362649;CH471258;NM_001102610;NM_052903;XM_005272540;XM_006725174 AAH46182;AAH71560;AAK77662;BAB67792;BAF82548;EAW65556;EAW65557;NP_001096080;NP_443135;Q96RT8;XP_005272597;XP_006725237 Hs.533898 5015881 GDB:335751 GCP-5;GCP5;KIAA1899 OTTHUMP00000159254;gamma-tubulin complex component 5;gamma-tubulin complex component GCP5 protein-coding ENSG00000275835 HGNC:18600 12177 608147 VALIDATED 1321243 TUFT1 tuftelin 1 Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014] 1 1 1 q21 124628076 124671202 + 151512781 151556059 + 151540305 151583583 + 1580863;6480464;8554872 10806191;11062985;11076863;11230166;11256614;11733143;12477932;12489194;12975309;14702039;15489334;15489336;16381901;16710414;18781068;19322201;20360068;21139048;21988832;23000965;23790503;7919663;8125298 7286 A6PVU8;Q9NNX1 ABBA01049399;ABBA01049400;ABBA01049401;AF254260;AF254860;AK026989;AK075001;AK223161;AK298066;AK299263;AK299925;AK315414;AL136917;AL365436;AMYH02001886;AMYH02001887;AY358610;BC002933;BC008301;CH471121;CQ782987;NM_001126337;NM_001301317;NM_020127;XM_005245474;XM_006711525 AAF78913;AAF78914;AAH02933;AAH08301;AAQ88973;ABM84116;ABM84609;ABM87804;BAB15615;BAC11346;BAD96881;BAG37804;BAH12717;BAH12982;BAH13174;CAB66851;CAF86208;CAL38134;EAW53429;EAW53430;EAW53431;EAW53432;EAW53433;NP_001119809;NP_001288246;NP_064512;Q9NNX1;XP_005245531;XP_006711588 Hs.489922 1341138;1342378;1670123;1684020;1798436;1803288;1803790;1805298;1807990;1808554;1811976;1811978;1813210;1813632;1814016;1815576;1815722;1815836;1815838;1816424;1818258;1821762;1825704;1826366;1828826;1829734;1830686;1831192;1833500;1835660;1836440;1839814;1839874;1840752;1842074;1842230;1842936;1844180;1844268;1844658;1844732;1844734;1844890;1927436;1927438;1927440;1927442;1927444;1927446;1927448;1927450;1927452;1927454;1927456;1927458;1927460;1927462;1927464;1927466;1927468;1927470;1927472;1927474;1927476;1927478;1927480;1927482;1927484;1927486;1927488;1927490;1927492;1927494;1927496;1927498;1927500;1927502;1927504;1927506;1927508;1927510;1927512;1927514;1927516;1927518;1927520;1927522;1927524;1927526;1927528;1927530;1927532;1927534;1927536;1927538;1927540;1927542;1927544;1927546;1927548;1927550;1927552;1927554;1927556;1927558;1927560;1927562;1927564;1927566;1927568;1927570;1927572;1927574;1927576;1927578;1927580;1927582;1927584;1927586;1927588;1927590;1927592;1927594;1927596;1927598;1927600;1927602;1927604;1927606;1927608;1927610;1927612;1927614;1927616;1927618;1927620;1927622;1927624;1927626;1927628;1927630;1927632;1927634;1927636;1927638;1927640;1927642;1927644;1927646;1927648;1927650;1927652;1927654;1927656;1927658;1927660;1927662;1927664;1927666;1927668;1927670;1927672;1927674;1927676;1927678;1927680;1927682;1927684;1927686;1927688;1927690;1927692;1927694;1927696;1927698;1927700;1927702;1927704;1927706;1927708;1927710;1927712;1927714;1927716;1927718;1927720;1927722;1927724;1927726;1927728;1927730;1927732;1927734;1927736;1927738;1927740;1927742;1927744;1927746;1927748;1927750;1927752;1927754;1927756;1927758;1927760;1927762;1927764;1927766;1927768;1927770;1927772;1927774;1927776;1927778;1927780;1927782;1927784;1927786;1927788;1927790;1927792;1927794;1927796;1927798;1927800;1927802;1927804;1927806;1927808;1927810;1927812;2123643;2135499;2156998;2171113;2181599;2207878;2207880;2207882;2207884;2207886;2207888;2207890;2207892;2207894;2207896;2207898;2207902;2207904;2207906;2207908;2207910;2207912;2207914;2207916;2207918;2207920;2207922;2207924;2207926;2207928;2207930;2207932;2207934;2207936;2207938;5022578;5022651;5037552;5127967 D11S2921;D1S1423;D1S2343;D1S2345;D1S317E;D8S2279;ECD00055;ECD02540;ECD02803;ECD03595;ECD04973;ECD05259;ECD06993;ECD06994;ECD07625;ECD07839;ECD08035;ECD08824;ECD08899;ECD08958;ECD08959;ECD09254;ECD10186;ECD11967;ECD13960;ECD14296;ECD15540;ECD15999;ECD16479;ECD16732;ECD17893;ECD18987;ECD19382;ECD21090;ECD21120;ECD21567;ECD22240;ECD22318;ECD22676;ECD23303;ECD23348;ECD23543;ECD23581;ECD23582;ECD23661;REN34544;REN34545;REN34546;REN34547;REN34548;REN34549;REN34550;REN34551;REN34552;REN34553;REN34554;REN34555;REN34556;REN34557;REN34558;REN34559;REN34560;REN34561;REN34562;REN34563;REN34564;REN34565;REN34566;REN34567;REN34568;REN34569;REN34570;REN34571;REN34572;REN34573;REN34574;REN34575;REN34576;REN34577;REN34578;REN34579;REN34580;REN34581;REN34582;REN34583;REN34584;REN34585;REN34586;REN34587;REN34588;REN34589;REN34590;REN34591;REN34592;REN34593;REN34594;REN34595;REN34596;REN34597;REN34598;REN34599;REN34600;REN34601;REN34602;REN34603;REN34604;REN34605;REN34606;REN34607;REN34608;REN34609;REN34610;REN34611;REN34612;REN34613;REN34614;REN34615;REN34616;REN34617;REN34618;REN34619;REN34620;REN34621;REN34622;REN34623;REN34624;REN34625;REN34626;REN34627;REN34628;REN34629;REN34630;REN34631;REN34632;REN34633;REN34634;REN34635;REN34636;REN34637;REN34638;REN34639;REN34640;REN34641;REN34642;REN34643;REN34644;REN34645;REN34646;REN34647;REN34648;REN34649;REN34650;REN34651;REN34652;REN34653;REN34654;REN34655;REN34656;REN34657;REN34658;REN34659;REN34660;REN34661;REN34662;REN34663;REN34664;REN34665;REN34666;REN34667;REN34668;REN34669;REN34670;REN34671;REN34672;REN34673;REN34674;REN34675;REN34676;REN34677;REN34678;REN34679;REN34680;REN34681;REN34682;REN34683;REN34684;REN34685;REN34686;REN34687;REN34688;REN34689;REN34690;REN34691;REN34692;REN34693;REN34694;REN34695;REN34696;REN34697;REN34698;REN34699;REN34700;REN34701;REN34702;REN34703;REN34704;REN34705;REN34706;REN34707;REN34708;REN34709;REN34710;REN34711;REN34712;REN34713;REN34714;REN34715;REN34716;REN34717;REN34718;REN34719;REN34720;REN34721;REN34722;REN34723;REN34724;REN34725;REN34726;REN34727;REN34728;REN34729;REN34730;REN34731;REN34732;RH64508;RH64744;RH66158;RH70512;RH70740;RH79758;SHGC-152544;stSG627272;stSG627273;stSG627274;stSG627275;stSG627276;stSG627277;stSG627278;stSG627279;stSG627280;stSG627281;stSG627282;stSG627285;stSG627286;stSG627287;stSG627288;stSG627289;stSG627290;stSG627291;stSG627292;stSG627293;stSG627294;stSG627295;stSG627296;stSG627297;stSG627298;stSG627299;stSG627300;stSG627302;stSG627303;stSG627304 OTTHUMP00000014511;OTTHUMP00000014512;OTTHUMP00000196314;tuftelin protein-coding ENSG00000143367 HGNC:12422 02516 600087 VALIDATED 1348382 TULP3 tubby like protein 3 This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009] 12 12 12 p13.3 4613921 4664219 + 3000033 3050306 + 2890867 2941140 + 1580863;6480464;8554872 10509669;11375483;11801719;12477932;14702039;15489334;20634891;21139048;21890473;21906983;21963094;22190034;23000965;23382074;9828123 7289 B7Z1E7;F5GWL5;F5H7B9;H0YFU8;H0YG12;O75386 ABBA01048794;ABBA01048795;ABBA01048796;AC005911;AF045583;AK024246;AK293285;AK307434;AMYH02025888;AMYH02025889;AMYH02025890;BC019618;BC032587;BP392987;CH471116;NM_001160408;NM_003324 AAC95431;AAH32587;ABZ92242;ADZ16021;BAG51279;BAH11483;EAW88876;EAW88877;EAW88878;NP_001153880;NP_003315;O75386 Hs.655333 1648280;1659901;1661325;2108619 G17615;RH44963;STS-N62451;TULP3_8701 MGC45295;TUBL3 OTTHUMP00000238115;OTTHUMP00000238116;tubby-like protein 3;tubby-related protein 3 APPROVED protein-coding ENSG00000078246 HGNC:12425 05292 604730 REVIEWED 4889392 TULP3P1 tubby like protein 3 pseudogene 1 13 13 13 q32.1 78446271 78448603 - 97598849 97601181 - 96946595 96948927 - 100128017 ABBA01027167;AL353581;AMYH02028541;NG_011427 pseudo HGNC:39262 INFERRED 1322319 TULP1 tubby like protein 1 This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates and encode proteins of unknown function. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. Mutations in this gene may be associated with juvenile retinitis pigmentosa and Leber congenital amaurosis-15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 6 6 6 p21.3 37019631 37034629 - 35465651 35480715 - 35497874 35512902 - 1624352;1580863;6480464;7240710;8547535;8554872;8699517 23701314;9462750 1000483;10440267;10549638;10607826;10711677;11481257;12477932;15146197;15489334;15557452;16303976;17286855;17474147;17620573;17962469;18432314;19837063;20301475;20301590;20591486;20801516;20978472;21697133;21987678;22605927;22665969;22841784;23499059;24664737;25074776;7987322;9096357;9462751;9521870;9660588 7287 F1T0I9;O00294;Q5TGM7 AB593123;AB593124;ABBA01038235;ABBA01038236;AF034923;AL033519;AMYH02013543;BC032714;BC065261;CH471081;CN355966;DQ426893;NG_009077;NM_001289395;NM_003322;U82468 AAB53700;AAB97966;AAH32714;AAH65261;ABD90544;ABZ92241;BAJ84063;BAJ84064;EAX03839;EAX03840;NP_001276324;NP_003313;O00294 Hs.485208 1715655 RH119273 LCA15;RP14;TUBL1 OTTHUMP00000016266;OTTHUMP00000016267;Tubby related protein 1 (Tubby-like protein 1);tubby-like protein 1;tubby-related protein 1 APPROVED protein-coding ENSG00000112041 HGNC:12423 03788 600132;602280;613843 REVIEWED 6484644 TUNAR TCL1 upstream neural differentiation-associated RNA ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH all-trans-retinoic acid 14 14 14 76398475 76447654 + 96343109 96391908 + 95876772 95925571 + 6480464;8554872 14702039;16344560;24530304 100507043 ABBA01048600;AK023027;AK091547;AL133167;AMYH02029802;BC016484;DA412350;NR_038861 Hs.455955 1726711;1849321;1849323;2136634 A001Y25;G19786;G62743;RH44545 LINC00617;TUNA APPROVED ncrna ENSG00000250366 HGNC:44088 615719 VALIDATED 1350994 TULP4 tubby like protein 4 INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); response to nutrient (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene 6 6 6 q25-q26 159381741 159580886 + 158653268 158932860 + 158232236 158511828 + 1580863;6480464;8554872 10718198;11595174;12076535;12477932;14702039;17474147;18029348;19322201;20379614;20881960;21145461;8612280 56995 Q9NRJ4 AB037818;ABBA01021090;ABBA01021091;ABBA01021092;AF219946;AF288480;AK092091;AK304056;AL133347;AL353800;AL360169;AMYH02014840;AMYH02014841;AMYH02014842;AMYH02014843;AMYH02014844;AMYH02014845;AMYH02014846;AMYH02014847;AMYH02014848;AMYH02014849;AMYH02014850;AMYH02014851;BC152476;BE795693;CH471051;NM_001007466;NM_020245;XM_005267057 AAF87975;AAG01020;AAI52477;AAI66702;BAA92635;BAG64964;EAW47661;EAW47662;NP_001007467;NP_064630;Q9NRJ4;XP_005267114 Hs.486993 1339774;1645665;1658616;1663873;1671615;1695804;1715971;1719873;1751749;1761975;1781122;1787648;2113820;2161393;2187567;7185691 AB055326;D6S437;NIB330;RH122728;RH124055;RH36345;RH46643;RH48840;SHGC-105718;SHGC-145905;SHGC-156011;SHGC-82563;STS-H78234;WI-14921;stdJ250C19SP6 KIAA1397;RP3-442A17.1;TUSP OTTHUMP00000017502;OTTHUMP00000017503;tubby super-family protein;tubby superfamily protein;tubby-like protein 4;tubby-related protein 4 protein-coding ENSG00000130338 HGNC:15530 18246 VALIDATED 1321519 TULP2 tubby like protein 2 TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 46251586 46269352 - 49384222 49401996 - 48880849 48898832 - 1580863;6480464;8554872 10591637;12477932;14708010;16189514;19322201;22990118;9096357 7288 E5RH05;E5RHR0;E5RIF7;H0YBB5;O00295 ABBA01032962;ABBA01032963;AC026803;AMYH02036312;BC026070;CH471177;DB442827;NM_003323;U82469;XM_006723345;XM_006723346;XM_006723347;XM_006723348;XM_006723349 AAB53701;AAH26070;ABM81862;EAW52410;NP_003314;O00295;XP_006723408;XP_006723409;XP_006723410;XP_006723411;XP_006723412 Hs.104636 CT65;TUBL2 OTTHUMP00000226636;cancer testis antigen 65;cancer/testis antigen 65;tubby-like protein 2;tubby-related protein 2 2289232 BW89_H APPROVED protein-coding ENSG00000104804 HGNC:12424 03813 602309 VALIDATED 1313566 TUFM Tu translation elongation factor, mitochondrial This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 27808340 27812337 - 28853732 28857729 - 28842411 28846408 - 1580863;6480464;7240710;8554872;8699517 11741979;11790298;12477932;12577067;12665801;12777385;12938929;15231747;15489334;15635413;15952740;16196087;16236267;16335966;16632485;17033963;17160893;17207965;17353931;18029348;18063578;18753147;18781797;19156129;19167051;19454010;19524667;19738201;19759913;19946888;20186120;20639865;20877624;20935630;21081666;21110914;21139048;21145461;21319273;21853274;21890473;21906983;21965664;21987572;22268729;22505724;22586326;22749352;22772342;22863883;22904065;22939629;22944692;22952844;23000965;23182705;23184937;23246001;23254330;23321557;23398456;23402259;23455922;23463506;23798571;23862649;24244333;24337577;24457600;24583282;24816145;25027693;7828719;8547323;9332382;9545647 7284 H3BNU3;P49411 ABBA01045688;AC133550;AMYH02031814;BC001633;BC010041;CA420396;CH471267;L38995;NG_008964;NM_003321;S75463;X84694 AAB00499;AAC60647;AAH01633;AAH10041;ADQ32704;CAA59169;EAW51997;EAW51998;NP_003312;P49411 Hs.12084 1676418;1689143;2175681 HSC0MH022;RH11620;RH27929 COXPD4;EF-Tu;EF-TuMT;EFTU;P43 OTTHUMP00000122539;elongation factor Tu, mitochondrial APPROVED protein-coding ENSG00000178952 HGNC:12420 03861 602389;610678 REVIEWED 1606109 TUSC1 tumor suppressor candidate 1 This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. [provided by RefSeq, Jul 2008] 9 9 9 p21.2 25603429 25605898 - 25676387 25678856 - 25676389 25678858 - 6480464 12477932;15208665;19322201;20574843;21116278;22589738;23728906;23776618;23934736;24250222;24366000;24700496 286319 Q2TAM9 ABBA01065141;AL590322;AMYH02019326;AY168647;BC017510;BC028316;BC036931;BC046919;BC110824;BM126697;BM126733;CH471071;NG_012031;NM_001004125 AAH17510;AAH28316;AAH46919;AAI10825;AAO38227;EAW58580;NP_001004125;Q2TAM9 Hs.26268;Hs.606014 1678011 RH78062 MGC131751;TSG-9;TSG9 OTTHUMP00000215884;tumor suppressor candidate gene 1 protein APPROVED protein-coding ENSG00000198680 HGNC:31010 18247 610529 REVIEWED 2947879 TUSC2P1 tumor suppressor candidate 2 pseudogene 1 X Y Y p11.2 92529329 92530559 + 5755552 5756782 + 5887511 5888741 + 12815422;9847074 359794 ABBA01069925;AC010977;NG_002812 TUSC2P pseudo HGNC:23963 INFERRED 1316944 TUBG2 tubulin, gamma 2 ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); structural molecule activity (inferred); INVOLVED IN cytoplasmic microtubule organization (inferred); G2/M transition of mitotic cell cycle (inferred); GTP catabolic process (inferred); FOUND IN microtubule; INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 17 17 17 q21 37466727 37474489 + 40811266 40819024 + 42659248 42667006 + 1580863;6480464 10840040;10903841;11237715;11956313;12221128;12477932;14702039;14767062;15489334;15691386;15698476;17337485;20360068;20508983;21139048;21525035;21890473;21906983;21963094;22053931;22235350;22268729;22806905;23000965;23826228;24250222;8125298;8838651;9566969 27175 Q9NRH3 ABBA01006415;AC067852;AF225971;AK022324;AK225134;AMYH02033433;BC009670;BC051890;BC052283;BC108739;DC353745;NM_016437;XM_005257222;XM_005257223 AAF34188;AAH09670;AAH51890;AAI08740;BAB14012;NP_057521;Q9NRH3;XP_005257279;XP_005257280 Hs.708059 1771400;1851925;2110009;2147201;5093692 A009V07;D17S1396E;G32868;RH11832;TUBG2_9537 MGC131994 gamma-2-tubulin;tubulin gamma-2 chain protein-coding ENSG00000037042 HGNC:12419 05778 605785 VALIDATED 1343391 TUSC2 tumor suppressor candidate 2 This gene is a highly conserved lung cancer candidate gene. No other information about this gene is currently available. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 50335176 50338503 - 50362341 50365668 - 50324910 50328237 - 632905;1580863;6480464;8554872 8780057 11085536;11593436;12477932;14702039;15126327;15489334;17207965;17353931;17486070;17545076;18077375;18172250;19671678;19852844;21273575;21645495;21988832;24146957 11334 F2Z2A9;G3V0I0;O75896 ABBA01024551;AC002455;AC002481;AF055479;AK124058;AK311998;AMYH02006768;BC023976;CA392689;CH471055;NM_007275 AAC35497;AAH23976;ADQ32616;BAG34936;EAW65095;EAW65096;EAW65097;NP_009206;O75896 Hs.517981 1679459;1735190;2119930;2151301;2180870 Cda0la01;D3S2832E;D3S3118;RH91127;STS-N24898 C3orf11;FUS1;PAP;PDAP2 OTTHUMP00000210895;PDGFA associated protein 2;PDGFA-associated protein 2;fus-1 protein;fusion 1 protein APPROVED protein-coding ENSG00000114383 HGNC:17034 06134 607052 REVIEWED 1316946 TUSC5 tumor suppressor candidate 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chloroprene (ortholog) 17 17 17 p13.3 1196900 1218026 + 1182957 1204281 + 1279663 1300987 + 1580863;6480464;8554872 12477932;12660825;17689857;22363774;23302999 286753 Q8IXB3 AB090231;ABBA01054653;AC032044;AC107911;AL831929;AMYH02032734;BC142615;CH471108;NM_172367 AAI42616;BAC43751;EAW90630;NP_758955;Q8IXB3 Hs.146059 DSPB1;IFITMD3;LOST1 OTTHUMP00000163051;dispanin subfamily B member 1;interferon induced transmembrane protein domain containing 3;interferon-induced transmembrane domain-containing protein D3;located at seventeen p thirteen point three 1;protein located at seventeen-p-thirteen point three 1 protein-coding ENSG00000184811 HGNC:29592 18248 612211 VALIDATED 4889172 TUSC7 tumor suppressor candidate 7 (non-protein coding) ASSOCIATED WITH Lung Neoplasms (inferred) 3 3 3 q13.31 114836434 114843686 + 116428635 116435887 + 116709788 116717040 + 8554872 12477932;20048075;23558749;23680400 285194 ABBA01061610;AC108687;AC108713;AMYH02007479;AW082858;AW195910;BC035185;BC104179;BC104180;BC112981;BC112982;HG495964;HG495965;HG495967;HG495968;HG495969;NR_015391 Hs.120364 2113750 AB052180 LINC00902;LSAMP-AS1;LSAMP-AS3;NCRNA00295;RP11-115O13.1;TUSC7 APPROVED ncrna HGNC:27701 VALIDATED 1606831 TUSC3 tumor suppressor candidate 3 This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate cancer. The gene is expressed in most nonlymphoid human tissues including prostate, lung, liver, and colon. Expression was also detected in many epithelial tumor cell lines. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p22 14361735 14585988 + 15397596 15624158 + 15540087 15766649 + 6480464;6907045;7240710;8554872;8699517 10097140;12477932;12887896;14718574;15231748;15489334;15835887;16270321;16344560;17641416;18452889;18455129;19451220;19717468;20301507;20505342;20972266;21513506;21557188;21739581;21987572;22268729;22424883;22449649;23404293;23594818;23825019;24483146;8661104;9778121 7991 D6RA37;D6RDV0;D6RIY7;Q13454 ABBA01021598;ABBA01021599;AC010656;AC019292;AC091559;AC100850;AF028729;AI366810;AK026149;AMYH02017506;AMYH02017507;AMYH02017508;AY530159;AY562998;AY562999;BC010370;BT020002;BX641112;CH471080;DA796279;NG_012141;NM_006765;NM_178234;U42349;U42359;U42360;XM_005273646;XM_005273647;XM_005273648 AAB18374;AAB18375;AAB18376;AAH10370;AAS18677;AAS75588;AAS75589;AAV38805;ABM83862;ABM87184;EAW63837;EAW63838;EAW63839;NP_006756;NP_839952;Q13454;XP_005273703;XP_005273704;XP_005273705 Hs.426324;Hs.600825 1697768;1699950;1704882;1705336;1714727;1734060;1747097;1794240;1794242;1794244;2111498;2143695;2155876;2157156;5127176 AV026556;D8S1188;D8S1667;D8S1992;D8S2069;PMC310830P6;PMC310830P7;PMC310830P8;RH102407;RH103583;RH120028;RH36122;RH36526;SHGC-79915;SHGC-83517 D8S1992;DKFZp686B22120;M33;MGC13453;MRT22;MRT7;N33;OST3A OTTHUMP00000120035;OTTHUMP00000120036;OTTHUMP00000220408;OTTHUMP00000220409;OTTHUMP00000220410;OTTHUMP00000220411;OTTHUMP00000220412;OTTHUMP00000220413;Putative prostate cancer tumor suppressor;magnesium uptake/transporter TUSC3;oligosaccharyltransferase 3 homolog A APPROVED protein-coding ENSG00000104723 HGNC:30242 03228 601385;611093 REVIEWED 1343449 TVP23A trans-golgi network vesicle protein 23 homolog A (S. cerevisiae) ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH valproic acid; cadmium dichloride (ortholog) 16 16 16 p13.13 11029800 11081859 - 10855221 10912651 - 10760919 10818794 - 6480464;8554872 12477932;15146197 780776 A6NH52;I3L109;I3L3Y3;I3L488 ABBA01006796;ABBA01006797;ABBA01006798;AC074136;AK124106;AK294418;AL833564;AMYH02031454;AMYH02031455;BC050569;BC146882;BC146886;BC171807;BC171816;BC171817;BC171819;CN301583;KC877580;NM_001079512;XM_005255563;XM_006720944;XM_006720945;XR_243301 A6NH52;AAI46883;AAI46887;AAI71817;BAG57667;NP_001072980;XP_005255620;XP_006721007;XP_006721008 Hs.371576 1761619;2145908;5015861;5022651;7185938 D10S16;D11S2921;D16S2962;SHGC-145614 FAM18A;YDR084C Golgi apparatus membrane protein TVP23 homolog A;family with sequence similarity 18, member A;hypothetical protein LOC780776 APPROVED protein-coding ENSG00000166676 HGNC:20398 PROVISIONAL 1345565 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009] 11 11 11 q12.2 59671911 59688674 - 62341431 62359109 - 62575045 62591637 - 737633;6480464 12477932 12603330;14702039;15489334;16055720;16751776;16790842;17643375;17872511;18172165;18288197;18305108;19615732;20618440;21102410;21139048;21906983;22244330;22268729;22863883;23166591;23306079;23416977;23667531;23874977;25027693;9628908 64852 C9JBX0;F5H0R1;F8WA97;J3KN81;Q9H6E5 ABBA01003229;ABBA01003230;AK025920;AK026000;AK292610;AMYH02024893;AP002990;BC005013;BC110910;BC128263;CA444886;CH471076;DQ586957;NM_022830 AAH05013;AAI10911;AAI28264;BAB15282;BAB15314;BAF85299;EAW74029;NP_073741;Q9H6E5 Hs.728983 1649510;1683637;1759997;2127407 RH66302;SHGC-105031;SHGC-2363;SHGC-57995 FLJ21850;FLJ22267;FLJ22347;MGC131987;MGC149809;PAPD2;RBM21 OTTHUMP00000213076;OTTHUMP00000213078;PAP-associated domain-containing 2;RNA binding motif protein 21;RNA uridylyltransferase;RNA-binding motif protein 21;RNA-binding protein 21;STARPAP;TUTase;TUTase 6;U6 TUTase;U6 snRNA-specific terminal uridylyltransferase 1;U6-TUTase;nuclear speckle targeted phosphatidylinositol 4-phosphate 5-kinase type I-alpha regulated-poly(A) polymerase;nuclear speckle-targeted PIPK1A-regulated-poly(A) polymerase;poly(A) polymerase associated domain containing 2;speckle targeted PIP5K1A-regulated poly(A) polymerase;star-PAP APPROVED protein-coding ENSG00000149016 HGNC:26184 15226 610641 REVIEWED 4140303 TVP23BP1 TVP23B pseudogene 1 15 15 15 q12 5371241 5371837 + 27210062 27210658 + 26964915 26965511 + 100129124 ABBA01044310;AC127511;AMYH02030115;NG_022121 FAM18B3P APPROVED pseudo HGNC:31127 INFERRED 4140027 TVP23BP2 TVP23B pseudogene 2 2 2 2 74686564 74687178 - 74855455 74856069 - 74628328 74628942 - 100421473 ABBA01075608;AC005033;AMYH02004091;NG_023571 FAM18B4P APPROVED pseudo HGNC:38869 INFERRED 7175371 TVP23CP1 TVP23C pseudogene 1 7 7 7 84965317 84965979 + 90261220 90261882 + 90631906 90632568 + 100421599 ABBA01045833;AC000059;AMYH02016245;CH236949;NG_026605 1802554;1803572 ECD02164;ECD02688 APPROVED pseudo HGNC:44646 INFERRED 7175485 TVP23CP2 TVP23C pseudogene 2 16 16 16 p13 14470184 14472216 + 14294189 14295976 + 14200332 14202119 + 10493829;20677014 261735 ABBA01006880;AC130650;AMYH02031538;NG_002361;U91322 1736548 D16S2547E CGI-148P APPROVED pseudo HGNC:44647 INFERRED 5508061 TVP23C-CDRT4 TVP23C-CDRT4 readthrough This locus represents naturally occurring readthrough transcription between the neighboring TVP23C (trans-golgi network vesicle protein 23 homolog) and CDRT4 (CMT1A duplicated region transcript 4) genes on chromosome 17. Alternative splicing results in multiple transcript variants, one of which encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Apr 2014] 17 17 p 15339332 15466945 - 15436015 15563631 - 6480464 16344560;20967262;21906983;8889548 100533496 Q96ET8 AB074181;ABBA01055043;AC005517;AC005838;AK303475;AMYH02033051;AMYH02033052;CB850543;DA796743;KF573687;NM_001204478;NR_037924 BAE45741;BAG64512;NP_001191407 Hs.164595 FAM18B2-CDRT4;FLJ53614 FAM18B2-CDRT4 readthrough;OTTHUMP00000227734;OTTHUMP00000227735;OTTHUMP00000246095;hypothetical protein LOC100533496;uncharacterized protein LOC100533496 APPROVED protein-coding ENSG00000259024 HGNC:42961 VALIDATED 1602059 TVP23C trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) FOUND IN integral component of membrane (inferred); INTERACTS WITH thapsigargin; tunicamycin; Aroclor 1254 (ortholog) 17 17 17 p12 19300281 19303862 + 15405578 15466945 - 15502264 15563631 - 6480464 12477932;20379614;21890473;21906983;23000965;24816145 201158 B4E0Q0;C9JPH1;C9JYS5;E5RGC5;E5RIS5;J3QL47;K7EK95;Q96ET8 ABBA01055045;ABBA01055046;ABBA01055047;AC005517;AC005838;AK310363;AMYH02033052;BC011952;BQ448398;BU754306;DC393880;NM_001135036;NM_145301 AAH11952;NP_001128508;NP_660344;Q96ET8 Hs.164595 1339748;1645869;1668004;1684024;1693460;2110393;2184162;5015619;5016478;5022578;5022651;5024272;5037552;5114955;5115425 A006N39;AFM165zd4;D11S2921;D11S3114;D17S1281;D17S1930;D17S793;D1S1423;D2S1254;D8S2279;FAM18B__7626;GDB:434012;L29897;RH36376;SHGC-59075 FAM18B2;MGC8763 Golgi apparatus membrane protein TVP23 homolog C;OTTHUMP00000065088;OTTHUMP00000065089;OTTHUMP00000227907;family with sequence similarity 18, member B2;hypothetical protein LOC201158 APPROVED protein-coding ENSG00000175106 HGNC:30453 14125 VALIDATED 1353262 TWF1P1 twinfilin 1 pseudogene 1 17 17 17 q11.2 24388119 24391070 - 27528578 27531563 - 29201560 29204545 - 619519 ABBA01015032;AC005412;AMYH02033237;NG_005328 1657921;1676514 D12S1970;RH70527 A6ps1;PTK9P;PTK9P1 pseudo HGNC:21736 INFERRED 7299515 TUSC8 tumor suppressor candidate 8 (non-protein coding) 13 q14.11 44400250 44405984 - 12477932;16344560;24667250 400128 ABBA01021233;AL138960;AMYH02027952;BC025370;DB144307;NR_104174 Hs.438480 LINC01071;XLOC_010588 APPROVED ncrna ENSG00000237361 HGNC:49111 VALIDATED 1354447 TWF1P2 twinfilin 1 pseudogene 2 X X X q28 154675876 154679321 - 154517465 154520710 - 155288174 155291419 - 494555 ABBA01029138;AC234781;AL356738;AMYH02040867;NG_007309;NG_012497 A6ps2;PTK9P2 pseudo HGNC:21737 INFERRED 1323555 TWF1 twinfilin actin-binding protein 1 This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. [provided by RefSeq, Jul 2008] 12 12 12 q12 42989914 43003516 - 44187526 44200178 - 43793723 43806375 - 6480464 10406962;11870207;12207032;12429826;12477932;12775419;12807912;14702039;15188402;18029348;18781797;18837697;18976975;19423540;20406964;20438785;20571053;21080425;21139048;21832049;22863883;22939629;23224145;23340433;23940030;24816145;7507208 5756 F8VRG3;F8VS81;F8W1D0;F8W1Q9;F8W645;Q12792 AB209302;ABBA01031425;ABBA01031426;AC093012;AK127868;AK291223;AK297206;AMYH02026382;BC022344;BC022491;BC043148;BC068548;BT019691;CH471111;CR541736;CR541761;NM_001242397;NM_002822;NR_073472;NR_073473;U02680 AAC50062;AAH22344;AAH43148;AAH68548;AAV38497;ACE86784;ACE87470;BAD92539;BAF83912;BAG54588;BAG59691;CAG46536;CAG46561;EAW57868;EAW57869;EAW57870;NP_001229326;NP_002813;Q12792 Hs.189075;Hs.313056 1657921;1676514;5102527;5117226;5124597 D12S1970;GDB:451852;RH143291;RH70015;RH70527 A6;MGC23788;MGC41876;PTK9 A6 protein tyrosine kinase;OTTHUMP00000241047;OTTHUMP00000241048;OTTHUMP00000241050;OTTHUMP00000241051;PTK9 protein tyrosine kinase 9;protein tyrosine kinase 9;twinfilin, actin-binding protein, homolog 1;twinfilin-1 APPROVED protein-coding ENSG00000151239 HGNC:9620 10174 610932 REVIEWED 1314909 TVP23B trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; dioxygen 17 17 17 p11.2 19300281 19303861 + 18684458 18710027 + 18781145 18806714 + 1580863;6480464 10810093;12477932;15489334;21890473;21906983;23000965;24816145 51030 E5RIS5;I3L376;J3KS67;J3QL63;K7ENL4;Q9NYZ1 ABBA01000635;ABBA01000636;AC107982;AF151906;AF223467;AK128119;AK290813;AMYH02033119;BC008430;BX537929;BX648167;NM_016078;XM_005256673;XM_005256674 AAD34143;AAF64142;AAH08430;BAF83502;CAD97906;NP_057162;Q9NYZ1;XP_005256730;XP_005256731 Hs.87295 1645869;1668004;1736548;2110393;5015961;5022578;5037552;5114955;5115425 A006N39;D15S1477;D16S2547E;D17S1281;D17S1930;D1S1423;D8S2279;FAM18B__7626;L29897 CGI-148;FAM18B;FAM18B1;FLJ46240;NPD008;YDR084C Golgi apparatus membrane protein TVP23 homolog B;OTTHUMP00000065076;family with sequence similarity 18, member B;family with sequence similarity 18, member B1;hypothetical protein LOC51030 APPROVED protein-coding ENSG00000171928 HGNC:20399 13293 PROVISIONAL 1312984 TWF2 twinfilin actin-binding protein 2 The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008] 3 3 3 p21.1 52241938 52252496 - 52262626 52273183 - 52228610 52239167 - 6480464 10406962;11230166;12477932;12807912;15489334;15592455;16169070;17353931;17910947;18837697;19199708;19423540;19913121;19955359;20406964;20438785;20628086;21044950;21139048;21565611;21900206;21926972;21988832;22863883;22939629;23824909;23974872;24250222;24654937;24816145 11344 D6RG15;Q6IBS0 ABBA01024511;AC006252;AC097637;AF109365;AL136773;AMYH02006798;AMYH02006799;BC000327;BC003161;BC016452;BI551353;CH471055;CR456732;CR533520;NM_007284;Y17169 AAH00327;AAH03161;AAH16452;AAQ13513;ABM82680;ABM85862;CAB38055;CAB66707;CAG33013;CAG38551;EAW65194;NP_009215;Q6IBS0 Hs.436439 1770982;5037307;5491673 MARC_7313-7314:996687766:1;PTK9L_9268;RH11729 A6RP;A6r;FLJ56277;MSTP011;PTK9L;hA6RP A6-related protein;OTTHUMP00000212615;OTTHUMP00000221144;PTK9L protein tyrosine kinase 9-like (A6-related protein);protein tyrosine kinase 9-like (A6-related protein);twinfilin, actin-binding protein, homolog 2;twinfilin-1-like protein;twinfilin-2 APPROVED protein-coding ENSG00000247596 HGNC:9621 08464 607433 REVIEWED 1317243 TWISTNB TWIST neighbor FOUND IN microtubule cytoskeleton; nucleolus; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; disodium selenite; methyl methanesulfonate 7 7 7 p21.1 19719385 19732961 - 19735085 19748660 - 19695462 19709037 - 6480464 12393749;12438708;12477932;12690205;14702039;17620599;18029348;19322201;19615732;20881960;21382349;23537643 221830 Q3B726 ABBA01056660;AC004940;AK090846;AK301329;AMYH02015326;BC013179;BC014574;BC056267;BC070358;BC130298;BC130300;BK000492;CH236948;CH471073;NM_001002926 AAH14574;AAI30299;AAI30301;ADR83135;BAH13460;DAA05732;EAL24277;EAW93714;NP_001002926;Q3B726 Hs.353035 1699230;2107731;2174418 RH103196;RH47958;TWISTNB__5167 DNA-directed RNA polymerase I subunit RPA43;OTTHUMP00000201809;twist neighbor protein protein-coding ENSG00000105849 HGNC:18027 16311 608312 VALIDATED 1315122 TXK TXK tyrosine kinase ENCODES a protein that exhibits RNA polymerase II regulatory region DNA binding; INVOLVED IN positive regulation of interferon-gamma production; positive regulation of interferon-gamma-mediated signaling pathway; protein autophosphorylation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH all-trans-retinoic acid; formaldehyde; isotretinoin 4 4 4 p12 48517268 48584988 - 48068410 48136273 - 48066393 48134256 - 1580863;6480464;8554872 10523612;10587356;10660534;11353545;11859127;12081135;12477932;14684750;15175272;16273093;16344560;16809408;18941202;19913121;20379614;20628086;20800603;22623531;23128233;7528718;7951233;8632917;8702662;9047237;9813138 7294 D6R9F2;D6RA14;D6RBM7;E7EQN8;P42681 ABBA01014341;ABBA01014342;AC079118;AC096749;AK300141;AK307055;AMYH02009164;AMYH02009165;AMYH02009166;BC017829;CH471069;DB103575;L27071;NM_003328;U07791;U07792;U34379 AAA19597;AAA19598;AAA74557;AAB60412;AAI66632;BAG61927;EAW93051;EAW93052;EAW93053;NP_003319;P42681 Hs.479669 1644430;1647878;1778001;2130750;2135996;2135998;5118444 A005Z18;D11S3316;D2S2579;D4S3133;G20621;RH70607;SHGC-59740 BTKL;MGC22473;PSCTK5;PTK4;RLK;TKL OTTHUMP00000128242;PTK4 protein tyrosine kinase 4;protein-tyrosine kinase 4;resting lymphocyte kinase;tyrosine kinase;tyrosine-protein kinase TXK protein-coding ENSG00000074966 HGNC:12434 02505 600058 VALIDATED 1603882 TXLNA taxilin alpha ENCODES a protein that exhibits syntaxin binding (inferred); INVOLVED IN B cell activation (inferred); exocytosis (inferred); FOUND IN cytoplasm; membrane; INTERACTS WITH (+)-catechin; copper(2+) sulfate; ethyl methanesulfonate 1 1 1 p35.1 30915245 30933788 + 32645293 32663886 + 32179695 32198285 + 6480464 11076863;11230166;11256614;12477932;12558796;14623251;14702039;14743216;15184072;15489334;15489336;16381901;16710414;17015757;17353931;18645499;19038581;19322201;19663695;19946888;21042709;21139048;21551945;21890473;21903422;21906983;22053931;22785156;22797925;22939629;23000965;23816704;24250222;24722188;24816145;25015289;8327514;8619474;8755619;9110174 200081 A0AUK0;P40222 ABBA01023437;ABBA01023438;AF070546;AF516206;AK096161;AK096939;AL049795;AL713662;AL832338;AL832636;AL832637;AMYH02000705;BC029686;BC046565;BC065263;BC080578;BC103823;BC103824;BC103825;CH471059;NM_175852;XM_005270594;XM_006710424 AAH29686;AAH46565;AAH80578;AAI03824;AAI03825;AAI03826;AAO42465;CAD89951;CAD89952;CAD91138;CAH10633;CAL38463;EAX07565;EAX07566;NP_787048;P40222;XP_005270651;XP_006710487 Hs.17987 1652391;1659579;1849274;2108013;2115637;2130298 A004Z24;DKFZp451J0118_8152;G06968;G09447;G28385;SHGC-74529 DKFZp451J0118;IL14;MGC118870;MGC118871;RP4-622L5.4;TXLN OTTHUMP00000004649;OTTHUMP00000004650;alpha-taxilin;interleukin 14 protein-coding ENSG00000084652 HGNC:30685 09408 608676 VALIDATED 1317484 TXLNB taxilin beta ENCODES a protein that exhibits syntaxin binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH benzo[a]pyrene; 3,4-methylenedioxymethamphetamine (ortholog); paracetamol (ortholog) 6 6 6 q24.1 140301267 140353271 - 139561198 139645148 - 139240061 139324011 - 6480464;8554872 11076863;11230166;11256614;12372618;12477932;14574404;14702039;15082161;15184072;15489334;15489336;16381901;20379614;21903422;23000965;23333304;24722188 167838 H7BY59;Q8N3L3 AB085905;ABBA01025796;AF111704;AK056970;AK314725;AL158850;AL592434;AL831988;AL832322;AL834248;AMYH02014597;AMYH02014598;AMYH02014599;BC115383;BC115384;BX647477;BX647633;CH471051;NM_153235;XM_005266836 AAI15384;AAI15385;AAM12420;BAC92688;BAG37268;CAD38617;CAD38924;CAD91140;CAI45977;CAI45978;CAL37662;CAL38285;CAL38724;EAW47896;EAW47897;EAW47898;EAW47899;NP_694967;Q8N3L3;XP_005266893 Hs.535820 1735594;1786054;2120134;2146219 D6S1119E;D6S1140E;RH41974;SHGC-155547 C6orf198;DKFZp451A175;LST001;MDP77;RP3-522B19.2;dJ522B19.2;hMDP77 OTTHUMP00000017313;beta-taxilin;chromosome 6 open reading frame 198;muscle-derived protein 77 protein-coding ENSG00000164440 HGNC:21617 10793 611438 VALIDATED 1347306 TXLNG taxilin gamma This gene encodes a member of the taxilin family. The encoded protein binds to the C-terminal coiled-coil region of syntaxin family members 1A, 3A and 4A, and may play a role in intracellular vesicle trafficking. This gene is up-regulated by lipopolysaccharide and the gene product may be involved in cell cycle regulation. The related mouse protein was also shown to inhibit activating transcription factor 4-mediated transcription and thus regulate bone mass accrual. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X p22.2 20923271 20981574 + 16804555 16862642 + 16786432 16844519 + 6480464 12477932;14702039;15184072;15911876;16344560;16831913;16964243;17081983;18029348;18068885;20936779;21139048;21890473;21903422;22082360;22939629;23000965;24816145;25036637 55787 Q9NUQ3 AA731379;ABBA01071465;ABBA01071466;ABBA01071467;ABBA01071468;ABBA01071469;ABBA01071470;ABBA01071471;ABBA01071472;ABBA01071473;ABBA01071474;ABBA01071475;ABBA01071476;AF143740;AK002071;AK090800;AK123142;AL929302;AMYH02038931;AMYH02038932;AW197225;AY739713;BC101572;BC101576;BX004861;CH471074;DA516680;DB098819;NG_016267;NM_001168683;NM_018360;U56251;XM_005274558 AAF70546;AAI01573;AAI01577;AAW65982;BAA92068;EAW98918;NP_001162154;NP_060830;Q9NUQ3;XP_005274615 Hs.555961 1677963;2112516;2168977 DXS8320;DXS9836;RH99226 CXorf15;ELRG;FIAT;FLJ11209;FLJ33481;LSR5;MGC126621;MGC126625;TXLNGX OTTHUMP00000022989;environmental LPS-responding;environmental lipopolysaccharide-responding gene protein;factor inhibiting ATF4-mediated transcription;factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription;gamma-taxilin;lipopolysaccharide specific response-5 protein;lipopolysaccharide-specific response protein 5 APPROVED protein-coding ENSG00000086712 HGNC:18578 06478 300677 REVIEWED 1352919 TXLNGY taxilin gamma pseudogene, Y-linked ENCODES a protein that exhibits syntaxin binding (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 8-bromo-3',5'-cyclic AMP; arsenite(3-) Y Y Y q11.222 6021233 6044307 - 21729244 21769056 + 19567358 19607170 + 6480464 11181995;12477932;12815422;14702039;16136134;16344560;17213182;17974005;20967262;9847074 246126 Q6ZSJ5;Q9BZA5 ABBA01073768;ABBA01073769;ABBA01073770;ABBA01073771;ABBA01073772;AC009977;AC010137;AC010889;AF332224;AF332225;AI129169;AI828041;AK090535;AK127387;AK303404;AL832583;BC035312;BC110817;BM263181;CD242693;CH471202;DA956406;DB132733;DT220167;FY211499;NR_045128;NR_045129 AAH35312;AAI10818;AAK13476;AAK13477;BAC86953;BAG64458;CAD89940;EAW54665;EAW54666;EAW54667;Q9BZA5 Hs.522863 1685652;1690350;1694264;1694268;1694278;1694280;1694282;2113604;2188659;2188667;2188669;2189049;2189053;5017983;5022832;5095187;5095189 CYorf15A-1;CYorf15A-2;CYorf15A-3;CYorf15A-4;G42825;G42827;G42833;G42834;G42835;G65911;G65913;G66382;G66386;G66387;RH93589;RH93648;sY1322 CYorf15A;CYorf15B;DKFZp451G0616;FLJ33216;MGC131732;MGC21662;TXLNG2P OTTHUMP00000035444;hypothetical protein LOC246126 APPROVED pseudo ENSG00000131002 HGNC:18473 10618 400031 VALIDATED 737462 TXN2 thioredoxin 2 This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 20665238 20679833 - 36863083 36878072 - 36467036 36482025 - 70610;1580863;2306159;2306161;5133714;6480464;5685030 15039483;18045550;19128823;20571744;9006939 10591208;12032145;12080052;12477932;12938929;15461802;15489334;16424062;16868544;17220299;17548047;17601350;17634480;17939155;18029348;18497292;18977241;19124506;19135121;19165900;19570036;19885567;20706999;20819778;20877624;20929858;21158569;21327297;21557999;21726813;21800051;21890473;21988832;22939629;23485938;24342608;24735978 25828 B4DX69;F8WDN2;M0QXH0;Q99757 ABBA01055446;ABBA01055447;AF276920;AF480262;AK130187;AK301837;AL022313;AMYH02038321;BC013726;BC050610;CH471095;CR456601;CR541896;CR541917;NM_012473;U78678;XM_005261508;XM_006724226 AAB41631;AAF86467;AAH13726;AAH50610;AAN05576;ABM82505;ABM85698;ABM85970;BAG63281;CAG30487;CAG46694;CAG46715;CAK54632;CAK54931;EAW60103;EAW60104;NP_036605;Q99757;XP_005261565;XP_006724289 Hs.211929 1689021;1775168;1793060;1797008;2150943;5037552 D8S2279;PMC193924P2;RH68054;RH70707;RH75085;TXN2_1115 MT-TRX;MTRX;TRX2 OTTHUMP00000197895;OTTHUMP00000197898;mitochondrial thioredoxin;thioredoxin, mitochondrial;thioredoxin-2 APPROVED protein-coding ENSG00000100348 HGNC:17772 07161 609063 REVIEWED 1348266 TXNDC11 thioredoxin domain containing 11 INVOLVED IN cell redox homeostasis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH calcitriol; cyclosporin A; tunicamycin 16 16 16 p13.13 11947285 12011000 - 11772939 11836707 - 11679083 11742792 - 6480464 12477932;14702039;15489334;15561711;16189514;16713569;18985028;21078624;21163940;21906983;21988832;22268729;24250222;24390342;8619474;9110174 51061 I3L0Q4;I3L1A5;I3L2Z6;Q6PKC3 ABBA01006830;AC007613;AF131780;AK027464;AK027646;AK297094;AMYH02031477;AMYH02031478;BC002856;BC013727;BC018635;BX648407;CH471112;CR457152;NM_015914;XM_005255346 AAD20043;AAH02856;AAH13727;AAH18635;BAB55129;BAB55262;BAG59607;CAG33433;EAW85142;EAW85143;EAW85144;EAW85145;NP_056998;Q6PKC3;XP_005255403 Hs.313847 1678431;1683455;1684518;1703250;1737549;1772977;1776416;1858231;2165371;2173599;5015961;5022578 D15S1477;D16S2658;D16S2934E;D16S3293;D1S1423;RH48960;RH64999;RH67776;RH91254;RH93664;SGC32077;SHGC-24019 EFP1 EF-hand binding protein 1;EF-hand-binding protein 1;thioredoxin domain-containing protein 11 protein-coding ENSG00000153066 HGNC:28030 07125 PROVISIONAL 1312290 TXNDC15 thioredoxin domain containing 15 INVOLVED IN cell redox homeostasis (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; disodium selenite 5 5 5 q31.1 130337761 130365637 + 134209427 134237323 + 134873770 134901633 + 6480464 12477932;12754519;12975309;14702039;18391951;21139048;21642008;22268729;8125298 79770 B4DS52;D6R962;D6RAV9;D6RB48;D6RBD9;H0Y928;H0Y997;Q7Z345;Q96J42 ABBA01068734;ABBA01068735;AC006077;AK026278;AK056512;AK092425;AK225454;AK225462;AK299578;AK307529;AMYH02012253;AY358649;BC001615;BC032568;BX538131;CH471062;NM_024715 AAH01615;AAH32568;AAQ89012;ACE86995;ACE87684;ADZ15917;BAB15427;BAB71199;BAG61514;CAD98032;EAW62231;EAW62232;EAW62233;NP_078991;Q96J42 Hs.741304 1655550;2115115;2143621;5015861;5016596;5022578;7185938 D10S16;D1S1423;GDB:631802;SGC32319;STS-W46271;STS-Z40855 C5orf14;FLJ22625;UNQ335 2310047H23Rik;OTTHUMP00000159377;OTTHUMP00000223117;disulfide isomerase;thioredoxin domain-containing protein 15 protein-coding ENSG00000113621 HGNC:20652 08658 VALIDATED 1606291 TXNDC12 thioredoxin domain containing 12 (endoplasmic reticulum) This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012] 1 1 1 p32.3 50773286 50808524 - 52485803 52521843 - 52020131 52056171 - 6480464;6907045 12477932;12761212;12938929;12975309;14557066;14702039;15340161;15489334;16303743;16344560;16710414;17207965;18628206;19361226;19887585;20000738;20967262;21139048;22939629;23402259;24654937;24816145;8619474;9110174 51060 O95881;V9GY50;V9GYV4 ABBA01074781;AF131758;AF543416;AK056169;AK075409;AL445685;AMYH02001008;AY358982;BC001493;BC008913;BC008953;CH471059;CS051213;DA277685;FY213077;NM_015913;NR_046405;NR_046406 AAD20035;AAH01493;AAH08913;AAH08953;AAN34781;AAQ89341;ADQ33144;BAG52132;CAI72102;EAX06800;NP_056997;O95881 Hs.476033 1666982;1846837;1846839;1846930;1846932;1854432;2109961;2136075 A001V29;A001V30;A004C17;G07351;G19689;G19690;HSC22E022;TLP19_9658 AG1;AGR1;ERP16;ERP18;ERP19;PDIA16;TLP19;hAG-1;hTLP19 ER protein 18;ER protein 19;OTTHUMP00000010300;anterior gradient homolog 1;endoplasmic reticulum protein ERp19;endoplasmic reticulum resident protein 18;endoplasmic reticulum resident protein 19;endoplasmic reticulum thioredoxin superfamily member, 18 kDa;protein disulfide isomerase family A, member 16;thioredoxin domain-containing protein 12;thioredoxin-like protein p19 APPROVED protein-coding ENSG00000117862 HGNC:24626 11633 609448 REVIEWED 1349130 TWIST1 twist family bHLH transcription factor 1 Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome. [provided by RefSeq, Jul 2008] 7 7 7 p21.2 19134693 19136894 - 19039315 19157295 - 18999692 19117672 - 1624353;1580863;5131599;6480464;6484113;7240710;8554872;8699517 19893041;8988166 10025406;10465122;10485844;10749989;11001584;11062344;11474656;11748846;11754069;11854168;11948912;11977182;12015302;12142027;12218784;12270142;12477932;12553906;12690205;12791045;12853948;1433226;14513358;14724576;15210113;15313894;15489334;15545268;15555546;15607966;15735646;15880747;15900593;15958559;16229805;16293629;16322226;16412561;16502419;16540516;16737925;16831897;16888803;17003487;17070479;17157810;17236203;17332324;17332325;17343269;17394502;17403902;17414280;17487558;17512904;17690110;17785550;17886095;17893140;17925286;17967182;17987801;18062917;18172301;18231738;18255367;18297062;18349132;18353781;18391499;18440840;18480983;18504427;18519689;18549475;18598946;18663125;18974133;19051271;19064546;19094228;19276370;19345188;19373776;19381684;19412634;19453261;19470737;19513566;19534813;19597909;19609939;19644484;19802001;19816777;19821482;19851501;19860490;19863427;19954024;20007935;20019840;20025748;20079104;20140954;20219012;20301368;20388391;20400975;20400976;20496080;20505321;20562331;20564230;20628624;20634891;20643727;20646316;20696219;20714342;20804746;20818389;20838384;20857420;20920982;20943789;20970163;21083641;21123820;21138866;21199805;21208645;21316706;21317430;21324165;21333765;21389145;21397860;21461979;21464926;21478681;21502402;21503964;21532573;21539816;21559372;21559426;21594904;21677079;21732143;21740802;21748764;21796367;21822911;21834956;21854747;21864967;21866569;21883379;21884981;21914771;21919891;21931630;21983900;21994965;22002117;22006115;22006371;22007485;22020939;22050045;22056872;22060274;22102471;22110753;22155737;22166980;22178381;22184289;22241470;22245869;22253230;22266852;22272264;22288519;22290439;22331730;22349827;22354994;22360285;22407364;22457607;22515221;22532563;22544111;22576709;22581441;22581828;22654667;22668877;22797064;22820497;22847601;22896337;22899291;22961111;22965800;22974478;22974479;22975381;22982861;22983574;23029385;23041239;23052737;23056278;23095743;23150175;23158991;23161342;23167357;23222305;23232513;23251661;23280703;23329645;23354436;23360823;23364532;23375009;23429988;23500436;23527594;23530115;23613408;23621216;23623921;23664538;23682613;23684708;23691243;23696034;23741524;23775496;23815808;23825006;23828164;23845905;23848983;23873099;23889968;23928864;23935104;23982216;23990016;23991044;23994666;24002805;24023872;24051309;24051540;24085799;24092570;24113349;24117170;24148247;24150986;24157255;24204899;24220291;24262325;24288553;24304426;24402192;24418088;24435707;24457449;24468065;24469992;24607904;24927592;7296937;7987323;8968762;8988167;8995765;9073070;9215678;9259286;9343420;9934984 7291 H7BY00;H7C4D7;Q15672 ABBA01056654;ABBA01056655;AC003073;AC003986;AC004744;AMYH02015317;AW173505;BC036704;CH236948;CH471073;KF458394;NG_008114;NM_000474;U80998;X91662;X99268;XM_006715769;XR_428085;XR_428086;XR_428087;Y10871;Y11177;Y11178 AAC50930;AAC60381;AAH36704;ABM87769;CAA62850;CAA67664;CAA71821;EAL24279;EAW93711;NP_000465;Q15672;XP_006715832 Hs.644998;Hs.66744 1690798;1712549;1798302;2107803;2159318 M63649;MARC_39127-39128:1075469460:1;RH99312;STS-Y10871;TWIST1_2534 ACS3;BPES2;BPES3;CRS;CRS1;SCS;TWIST;bHLHa38 B-HLH DNA binding protein;H-twist;OTTHUMP00000116043;OTTHUMP00000201810;OTTHUMP00000201811;TWIST homolog of drosophila;class A basic helix-loop-helix protein 38;craniosynostosis;twist basic helix-loop-helix transcription factor 1;twist homolog 1;twist-related protein 1 APPROVED protein-coding ENSG00000122691 HGNC:12428 03374 101400;123100;180750;601622 REVIEWED 735468 TWIST2 twist family bHLH transcription factor 2 The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014] 2 2 2 q37.3 233470842 233508585 + 239756673 239795893 + 238848032 238910541 + 1580863;6480464;8699517;7240710;8554872 10524757;11062344;11809751;12477932;14654692;15030764;15489334;15735646;15809452;17487558;18598946;19453261;19644484;19937140;20691403;20714342;21109964;21167768;21602879;21738662;21801849;21866569;21931173;22018873;22058208;22103974;22201613;23133563;23613636;23763516;24171926;24193512;24244294;7589808;9061034 117581 Q8WVJ9 ABBA01033526;ABBA01042610;ABBA01042611;AC142117;AC145625;AC149644;AMYH02006076;AMYH02006077;AMYH02006078;AUXG01000015;AUXG01000016;AW072674;BC017907;BC033168;BC103755;BU615717;CH471063;DB359681;NG_032754;NM_001271893;NM_057179;XM_006712242 AAH17907;AAH33168;AAI03756;ABM83732;ABM87052;EAW71163;EAW71164;NP_001258822;NP_476527;Q8WVJ9;XP_006712305 Hs.422585;Hs.745035 1656160;5113886 RH101841;RH99211 DERMO1;FFDD3;MGC117334;SETLSS;bHLHa39 OTTHUMP00000235137;class A basic helix-loop-helix protein 39;dermis-expressed protein 1;dermo-1 protein;twist basic helix-loop-helix transcription factor 2;twist homolog 2;twist-related bHLH protein Dermo1;twist-related protein 2 APPROVED protein-coding ENSG00000233608 HGNC:20670 09616 227260;607556 REVIEWED 1318890 TXNDC17 thioredoxin domain containing 17 ENCODES a protein that exhibits electron carrier activity; peroxidase activity; protein-disulfide reductase activity; INVOLVED IN oxidation-reduction process; tumor necrosis factor-mediated signaling pathway; FOUND IN cytosol; extracellular vesicular exosome; INTERACTS WITH atrazine; cisplatin; cobalt dichloride 17 17 17 p13.1 6565278 6568917 + 6544222 6547861 + 6640902 6644541 + 1580863;6480464 12477932;12938929;14607843;14607844;15355959;15489334;18579519;19056867;21044950;21139048;21890473;21906983;21963094;22505724;22939629;23000965;24778250;25015289 84817 I3L0K2;I3L2R6;I3L3M7;Q9BRA2 ABBA01054836;AC004706;AF086210;AJ344101;AK291963;AK311853;AMYH02032876;BC006405;BC050406;CA431010;CH471108;NM_032731 AAH06405;BAF84652;CAC51435;EAW90302;NP_116120;Q9BRA2 Hs.408236 1675868;1734416;2107733;2132181;2133445;2166253;5017238 D17S1392E;RH47146;RH64650;RH91775;SHGC-32950;STS-N30572;TXNL5__5171 MGC14353;TRP14;TXNL5 14 kDa thioredoxin-related protein;OTTHUMP00000128227;protein 42-9-9;thioredoxin (Trx)-related protein, 14 kDa;thioredoxin domain-containing protein 17;thioredoxin-like 5;thioredoxin-like protein 5 protein-coding ENSG00000129235 HGNC:28218 11656 VALIDATED 1322557 TWSG1 twisted gastrulation BMP signaling modulator 1 INVOLVED IN BMP signaling pathway (inferred); camera-type eye development (inferred); cell differentiation (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH aflatoxin B1; arsenite(3-); cobalt dichloride 18 18 18 p11.3 9219304 9286615 + 9334765 9402424 + 9334767 9402420 + 1580863;6480464 10866189;11260715;11420619;12119341;12477932;14681194;14702039;15775969;16303743;16344560;17164348;17207965;19414861;21227728;23064961;23641068 57045 J3QS03;Q9GZX9 ABBA01049949;AF196834;AF294628;AI742025;AJ297391;AK027629;AK075550;AK315751;AMYH02034287;AMYH02034288;AP001033;BC020490;BU632669;CH471113;DA735800;NM_020648 AAG10076;AAG43468;AAH20490;ADQ31585;BAB55246;BAC11693;BAG38105;CAC05581;EAX01606;EAX01607;NP_065699;Q9GZX9 Hs.514685 2160317 RH46961 TSG OTTHUMP00000162352;twisted gastrulation homolog 1;twisted gastrulation protein homolog 1 APPROVED protein-coding ENSG00000128791 HGNC:12429 05443 605049 VALIDATED 1352753 TXNDC2 thioredoxin domain containing 2 (spermatozoa) ENCODES a protein that exhibits thioredoxin-disulfide reductase activity; INVOLVED IN oxidation-reduction process; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH cadmium atom; 4,4'-diaminodiphenylmethane (ortholog); mono(2-ethylhexyl) phthalate (ortholog) 18 18 18 9769333 9771721 + 9885723 9889272 + 9885726 9889275 + 6480464;8554872 11230166;11399755;11737268;12387870;12477932;14702039;15174051;15489334;16344560;18029348;21375472;23284291 84203 F5H6S7;J3QSG5;Q86VQ3 ABBA01049959;AC006238;AF080095;AK097656;AK303045;AL136742;AMYH02034293;BC050132;BI463874;BI831969;BM554364;CH471113;DB032859;DB037693;EF560747;HC007372;NM_001098529;NM_032243;XM_005258155;XM_005258156;XM_006722360 AAH50132;AAK94950;ABQ59057;ACE86952;ACE87643;BAC05133;BAG64165;CAB66676;CBH19491;EAX01593;EAX01594;NP_001091999;NP_115619;Q86VQ3;XP_005258212;XP_005258213;XP_006722423 Hs.98712 5016704 RH92269 DKFZp434H0311;MGC35026;SPTRX;SPTRX1 OTTHUMP00000162360;OTTHUMP00000162361;sperm-specific thioredoxin 1;spermatid-specific thioredoxin-1;sptrx-1;thioredoxin domain-containing 2 (spermatozoa);thioredoxin domain-containing protein 2 protein-coding ENSG00000168454 HGNC:16470 11654 VALIDATED 732441 TXN thioredoxin The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 9 q31 83507936 83520398 - 113006092 113018920 - 110243812 110256640 - 1580782;1580783;1580784;1580785;1580786;1580863;2306159;2306156;2306193;5133714;6480464;6484113;5685030 12870673;14677813;15694802;15749180;18045550;18578693;18701913;19128823;20571744;9714183 10397171;10419473;10585464;10814541;10843682;10947064;10982790;11012661;11118054;11298454;11323689;11517226;11689443;11751890;11778846;11841832;11972307;12008049;12029072;12089063;12099690;12119401;12189205;12244106;12244325;12477932;12529245;12660821;12804587;12816947;12878985;12882768;14503974;14644168;14688353;14695120;14703116;14730345;15096327;15128745;15234975;15480426;15489334;15494431;15507528;15723974;15824742;15894171;16097034;16115022;16207716;16263712;16311508;16424062;16458196;16492688;16507315;16712525;16750198;16766796;16868544;16916647;16966583;17007870;17045827;17113580;17115890;17220299;17316609;17331951;17353931;17360766;17369362;17557078;17574940;17601350;17606900;17634480;17651689;17652454;17724081;17823364;17896802;17917077;17949784;17972886;17982132;18209488;18384140;18420212;18457020;18497292;18544525;18579387;1874447;18781797;18835792;18848838;18976655;18977241;18983687;19056867;19120277;19124506;19135121;19208085;19328186;19337991;19385090;19471022;19540723;19558833;19561639;19566940;19592618;19601712;19620238;19671194;19681600;19690162;19723146;19773351;19799607;19913121;1998498;2001356;20074557;20103619;20172870;20218863;20298786;20347035;20379614;20385180;20423474;20430109;20485444;20536427;20619274;20628086;20661909;20662007;20847814;20877624;20929309;20943653;20955789;20974843;21030559;21139048;21145461;21150319;21158569;21212402;21250889;21319273;21324905;21353370;21526215;21557999;21620911;21636804;21642987;21704743;21705327;2176490;21800051;21890473;21906983;21908620;21963718;21988832;22053931;22134635;22248473;22384152;22430737;22447839;22492997;22505815;22516068;22760822;22810585;22863883;22867430;22882193;22933306;22939629;22977247;23000965;23068965;23105116;23112551;23133653;23206338;23212077;23223577;23238053;23246001;23319048;23335265;23398456;23402259;23485938;23571504;23606123;23671274;23743503;23747528;23862649;23880345;24008424;24062305;24086714;24130091;24130874;24147004;24244333;24338024;24459704;2684271;2785919;3170595;7601465;7788295;7821789;7922028;8049254;8736558;8805557;9108029;9369469;9433926;9464857;9564042;9915858 7295 H9ZYJ2;P10599 ABBA01042749;ABBA01042750;AF065241;AF085844;AF276919;AF313911;AF548001;AK289508;AL158158;AMYH02021448;AMYH02021449;AMYH02021450;AW160756;AY004872;BC003377;BC054866;BQ774337;BX647247;CH471105;CR407665;D28376;J04026;JQ313905;NM_001244938;NM_003329;X54539;X77584;XM_006717276 AAA74596;AAC17430;AAF86466;AAF87085;AAG34699;AAH03377;AAH54866;AAN33187;AFH41799;BAA05742;BAF82197;CAA38410;CAA54687;CAG28593;EAW59059;EAW59060;NP_001231867;NP_003320;P10599;XP_006717339 Hs.435136 1668131;1690700;1745043;1761293;5016820;5092378;5106813;5117354;5121523 D9S1707;G54088;GDB:512873;GDB:593240;RH70008;RH70912;RH71341;SHGC-145294;SHGC-35694 ADF;DKFZp686B1993;MGC61975;SASP;TRDX;TRX;TRX1 ATL-derived factor;OTTHUMP00000021892;OTTHUMP00000021893;TXN delta 3;surface-associated sulphydryl protein;thioredoxin delta 3 APPROVED protein-coding ENSG00000136810 HGNC:12435 01761 187700 REVIEWED 1345541 TXNDC8 thioredoxin domain containing 8 (spermatozoa) INVOLVED IN spermatogenesis; ASSOCIATED WITH Infertility, Male; FOUND IN cytoplasm; extracellular vesicular exosome; Golgi apparatus; INTERACTS WITH benzo[a]pyrene (ortholog); indole-3-methanol (ortholog); lead diacetate (ortholog) 9 9 9 q31.3 83567488 83601762 - 113065762 113100163 - 110303482 110337884 - 1303999;6480464;8554872 15181017 12477932;15164053;19056867;23734172 255220 A9Z1W9;B7ZME0;Q6A555 ABBA01042748;AF305830;AL158158;AMYH02021451;BC035743;BC130549;BC130551;BC144461;CH471105;HY007335;NM_001003936;NM_001286946;NM_001286947;XM_005251879;XM_005251881;XM_006717035 AAI30550;AAI30552;AAI44462;AAQ14501;ADR83471;EAW59061;NP_001003936;NP_001273875;NP_001273876;Q6A555;XP_005251936;XP_005251938;XP_006717098 Hs.147064 1335834;1647712;1754653 D9S1675;SHGC-133007;SHGC-5895 SPTRX-3;TRX6;bA427L11.2 OTTHUMP00000021894;OTTHUMP00000215886;sperm-specific thioredoxin 3;spermatid-specific thioredoxin-3;spermatocyte/spermatid-specific thioredoxin-3;thioredoxin 6;thioredoxin domain-containing protein 8;thioredoxin-6 protein-coding ENSG00000204193 HGNC:31454 18251 VALIDATED 4891982 TXNL1P1 thioredoxin-like 1 pseudogene 1 13 13 13 68218733 68219251 + 87377793 87378311 + 86725538 86726056 + 100419095 ABBA01027290;AL390731;AMYH02028411;NG_024942 pseudo HGNC:39459 INFERRED 1352767 TXNDC9 thioredoxin domain containing 9 The protein encoded by this gene is a member of the thioredoxin family. The exact function of this protein is not known but it is associated with cell differentiation. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 94140162 94157529 - 99935487 99957155 - 99319024 99336397 - 737633;6480464 12477932 15009089;15489334;15815621;16169070;16415341;21139048;21890473;21906983;21926972;21963094;22174782;22863883;22939629;23210642;24250222;8125298 10190 B8ZZX4;F8WBV5;F8WCJ3;G3XAJ4;O14530 AB006679;AB451403;ABBA01073948;ABBA01073949;AC079447;AK222616;AK301722;AK313777;AMYH02004400;BC005968;BC022864;BC024223;BC070183;BG772935;BM553565;CH471127;CR456935;NM_005783 AAH05968;AAH22864;AAH24223;AAH70183;AAX93257;BAA21881;BAD96336;BAG36515;BAG70217;BAH13540;CAG33216;EAX01868;EAX01869;EAX01870;EAX01871;NP_005774;O14530 Hs.536122 1684844;1688322 RH93287;SHGC-67500 PHLP3 APACD;ATP binding protein associated with cell differentiation;ATP-binding protein associated with cell differentiation;OTTHUMP00000161221;OTTHUMP00000203480;OTTHUMP00000203481;protein 1-4;thioredoxin domain-containing protein 9 APPROVED protein-coding ENSG00000115514 HGNC:24110 15592 612564 REVIEWED 1354026 TXNL1 thioredoxin-like 1 ENCODES a protein that exhibits disulfide oxidoreductase activity; INVOLVED IN cell redox homeostasis (inferred); glycerol ether metabolic process (inferred); oxidation-reduction process (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); beta-naphthoflavone 18 18 18 q21.31 50987191 51023052 - 54270053 54305920 - 56597209 56638689 - 1302267;1580863;6480464 9668102 10826702;11985582;12477932;12665801;14702039;15489334;16196087;16231315;16236267;16344560;16385451;16438969;17987124;18029348;18654987;18781797;19013454;19349277;19349280;19615732;19781552;20455272;21139048;21290163;21890473;21906983;21963094;21987572;22053931;22505724;22863883;22939629;23000965;23362275;24250222;24525731;24654937;24811749;24816145;9473519 9352 K7EKG2;K7EME7;K7EML9;K7EPB7;K7ER96;O43396;V9HW51 AB209263;ABBA01056125;AC007052;AF003938;AF051896;AF052659;AF143897;AK094926;AK313653;AMYH02034780;AMYH02034781;AV750604;BC001156;CH471096;DA248363;FJ224353;KF456423;NM_004786;NR_024546;XM_006722580;XM_006722581;XR_430086 AAC05830;AAC39599;AAC39898;AAF66676;AAH01156;ABM82772;ABM85960;ABW03441;ACI46045;BAD92500;BAG36407;BAG52957;EAW63034;EAW63035;EAW63036;NP_004777;O43396;XP_006722643;XP_006722644 Hs.114412 1699694;2140316;5106881 D18S1278;RH103452;RH15916 HEL-S-114;TRP32;TXL-1;TXNL;Txl 32 kDa thioredoxin-related protein;OTTHUMP00000163597;epididymis secretory protein Li 114;thioredoxin-like protein 1;thioredoxin-related 32 kDa protein;thioredoxin-related protein 1 protein-coding ENSG00000091164 HGNC:12436 04335 603049 VALIDATED 1315553 TXNDC16 thioredoxin domain containing 16 INVOLVED IN cell redox homeostasis (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum lumen; extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; cyclosporin A 14 14 14 q22.1 32764912 32886888 - 52897308 53019301 - 52430590 52552583 - 1580863;6480464;8554872 10718198;12477932;14702039;16344560;18029348;19199708;21359175;22419666;23535732 57544 B7ZME4;G3V2S5;H0YJI6;Q9P2K2 AB037765;ABBA01018165;AK022563;AK097748;AL157971;AMYH02029191;AMYH02029192;BC137081;BC137082;BC142650;BC144469;BC150205;BC152428;CH471078;DA231411;DB083799;NM_001160047;NM_020784 AAI37082;AAI37083;AAI42651;AAI44470;AAI50206;AAI52429;BAA92582;BAB14101;EAW65650;EAW65651;NP_001153519;NP_065835;Q9P2K2 Hs.532609 1656619;1756261;1766057;2147593 G35830;RH78442;SHGC-143165;SHGC-149440 ERp90;KIAA1344 OTTHUMP00000245094;thioredoxin domain-containing protein 16 protein-coding ENSG00000087301 HGNC:19965 11140 VALIDATED 1342505 TXNL3 thioredoxin-like 3 414229 HGNC:23742 1343574 TXNIP thioredoxin interacting protein ENCODES a protein that exhibits ubiquitin protein ligase binding; INVOLVED IN cellular response to tumor cell; keratinocyte differentiation; negative regulation of cell division; ASSOCIATED WITH Hypertriglyceridemia; Carcinoma, Renal Cell (ortholog); Colorectal Neoplasms (ortholog); FOUND IN cytoplasm; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl 1 1 1 q21.1 119641815 119645987 + 145438438 145442635 + 145992435 145996631 - 1580789;1642749;1642760;1642758;1642750;1642753;1642756;2306193;6480464 12553030;15047687;15170812;15834431;16172122;17381501;17675577;18701913 10419473;10814541;11376942;11753387;12054598;12189205;12386145;12477932;12821938;14632196;14766217;15128745;15136067;15231748;15234975;15489334;15537450;15696199;15705778;16301999;16344560;16710414;16723126;16766796;17472435;17555594;17579352;17603038;17671698;18202760;18301748;18376310;18458340;18541147;18781797;18793170;18835792;18848838;18974842;19018770;19052253;19214472;19246513;19254690;19322201;19327827;19605364;19619006;19773351;19808645;19847012;19913121;20027290;20068034;20172870;20398702;20558747;20584310;20628086;20656682;20680488;20826751;20844768;21139048;21151022;21192937;21271679;21424732;21439723;21448924;21460850;21510938;21543874;21636804;21705327;21771725;21890473;21900206;21906983;21908621;21916829;21929372;21963094;21987572;22053931;22113441;22236479;22267843;22450549;22750447;22760822;22768160;23000965;23112551;23152583;23291592;23387972;23393387;23453806;23454121;23519408;23520550;23691179;23803610;23880345;24198286;24492284;24645981;24878528;8086474;9207062 10628 F6RIS4;Q9H3M7 AA805348;AB051901;ABBA01005745;AC243547;AF333001;AK226090;AK301148;AK301203;AK304670;AL138842;AL160282;AY594328;BC024305;BC093702;BC093704;BF446648;BX404012;BX537824;CH471244;DB058019;HY177853;JA222523;JA512684;NM_006472;S73591 AAB31977;AAH93702;AAH93704;AAK37514;AAT01927;BAB18859;BAG62739;BAG62780;BAG65445;CAI22351;CAI22352;CCA65310;CCD57098;EAW71410;EAW71411;NP_006463;Q9H3M7 Hs.533977;Hs.709057 1654862;1662201;1668029;1681340;1701672;1734200;1734394;1735664;1754703;1775677;2113682;2123324;2127478;2149155;2166314;2166943;5124331 A002O32;AB062986;Bda44g03;D1S1737E;D1S1756E;D1S1903E;D1S3326;RH104508;RH50354;RH64581;RH70140;RH98174;SHGC-133065;SHGC-63511;SHGC-63512;SHGC-75407;WI-20055 EST01027;HHCPA78;THIF;VDUP1 OTTHUMP00000015596;OTTHUMP00000015597;thioredoxin binding protein 2;thioredoxin-binding protein 2;thioredoxin-interacting protein;upregulated by 1,25-dihydroxyvitamin D-3;vitamin D3 up-regulated protein 1 protein-coding ENSG00000265972 HGNC:16952 05964 606599 VALIDATED 1313292 TXNDC5 thioredoxin domain containing 5 (endoplasmic reticulum) This gene encodes a protein-disulfide isomerase. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream MUTED (muted homolog) gene. [provided by RefSeq, Dec 2010] 6 6 6 p24.3 9111188 9140484 - 7881483 7911047 - 7881250 7910814 - 1580863;6480464;6907045 11031247;11252894;12477932;12878160;12930873;12963716;12975309;14574404;14702039;15489334;16130169;16574106;17895523;19199708;19367581;19694819;19834535;19887585;19906073;20074551;20157732;21139048;21145461;21617212;21801346;21832049;21890473;21906983;22190034;22505402;22863883;22939629;23326410;23376096;23713588;23752268;24023338;24100949;24103565;24457600;24583282;24654937;24816145 81567 Q6EHZ3;Q86UY0;Q8NBS9 ABBA01022048;ABBA01022049;AJ440721;AK025006;AK075291;AK098089;AK315598;AL133541;AL833008;AL834423;AMYH02013063;AY326464;AY358646;BC001199;BC003529;BF726049;BU855393;CH471087;NM_001145549;NM_030810 AAH01199;AAQ89009;AAR99514;BAC11526;BAG37969;CAD29430;CAD39084;CAH56286;EAW55220;EAW55221;EAW55222;NP_001139021;NP_110437;Q8NBS9 Hs.150837 1649676;1654410;1680066;1852382;2151531;2160350;2175083 A002L04;AL021859;NIB594;RH26506;RH46813;SHGC-33534;WI-13193 ERP46;FLJ21789;Hcc-2;MGC3178;PDIA15;STRF8;UNQ364 ER protein 46;EndoPDI;OTTHUMP00000016005;OTTHUMP00000212222;endoplasmic reticulum protein ERp46;endoplasmic reticulum resident protein 46;endothelial protein disulphide isomerase;protein disulfide isomerase family A, member 15;thioredoxin domain-containing protein 5;thioredoxin related protein;thioredoxin-like protein p46 APPROVED protein-coding ENSG00000239264;ENSG00000259040 HGNC:21073 18249 REVIEWED 1347193 TXNL4A thioredoxin-like 4A INVOLVED IN gene expression (inferred); mitotic nuclear division (inferred); mRNA splicing, via spliceosome (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN cytoplasm; nucleus; INTERACTS WITH copper(2+) sulfate; lead(0); lead(2+) 18 18 18 q23 74505339 74521004 - 77732867 77748546 - 79972867 79988546 - 737633;6480464;6907045 12477932 10610776;10873650;11015569;11054566;12226669;12911302;15489334;15840814;16189514;16723661;17177886;18559850;19615732;20307692;20368287;21890473;22505724;22939629;23000965 10907 K7EJU2;K7EMX5;K7EPA6;K7ES07;K7ESL1;O14835;P83876 ABBA01013902;AC090360;AF023611;AF023612;AF146373;AK309098;AK314901;AMYH02035070;BC001046;BC019272;CH471117;NM_006701;XM_005266645 AAB81950;AAB81951;AAF17332;AAH01046;AAH19272;ADZ15703;BAG37415;EAW66639;EAW66640;EAW66641;NP_006692;P83876;XP_005266702 Hs.465498 1677975;1732035 D18S553;RH1664 DIB1;DIM1;HsT161;SNRNP15;TXNL4;U5-15kD DIM1 protein homolog;spliceosomal U5 snRNP-specific 15 kDa protein;thioredoxin-like 4;thioredoxin-like U5 snRNP protein U5-15kD;thioredoxin-like protein 4A protein-coding HGNC:30551 18252 611595 PROVISIONAL 1344635 TXNL4B thioredoxin-like 4B INVOLVED IN mitotic nuclear division (inferred); mRNA processing (inferred); RNA splicing (inferred); ASSOCIATED WITH ANHAPTOGLOBINEMIA (inferred); Melanoma (inferred); FOUND IN spliceosomal complex (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; bisphenol A; emodin 16 16 16 q22.2 56432875 56442336 - 72118756 72128215 - 72044265 72094316 - 737633;1580863;6480464;8554872 12477932 11015569;14702039;15161931;15163659;15342556;15489334;16142897;16275660;16344560;16511018;17207965;19322201;20686565;21048991;22082156;22403646;22505724;22916037;23519793;24097068;8125298 54957 H3BN11;H3BQ09;H3BUL8;Q9NX01 ABBA01016797;AC009087;AK000518;AK222889;AK308891;AMYH02032334;AY566808;BC009646;BP355646;CD517462;CH471166;CR457240;DA499499;HC309810;NM_001142317;NM_001142318;NM_017853;XM_006721212 AAH09646;AAS68520;ADQ32780;BAA91224;BAD96609;CAG33521;CBJ21212;EAW59191;EAW59192;NP_001135789;NP_001135790;NP_060323;Q9NX01;XP_006721275 Hs.134406 1678095;1736596;1736618;2110783;2154486;5022200;5022651 D11S2921;D16S2593E;D16S2606E;D16S3235;L18426;RH64997;TXNL4B_9856 DLP;Dim2;FLJ20511 Dim1-like protein;OTTHUMP00000174933;thioredoxin-like protein 4B protein-coding ENSG00000140830 HGNC:26041 11655 VALIDATED 8165680 TXNP4 thioredoxin pseudogene 4 17 17 17 p13.2 4487502 4488304 + 4475471 4475955 + 4572176 4572660 + 11702225 124974 ABBA01054770;AC118754;AF357531;AMYH02032824;NG_001303 pseudo HGNC:49484 INFERRED 7774325 TXNP3 thioredoxin pseudogene 3 1 1 1 q12 111136287 111137086 + 112905821 112906283 + 112363199 112363661 + 11702225 171419 ABBA01068406;AF357532;AL591521;AMYH02001735;NG_001324 pseudo HGNC:49483 INFERRED 8176913 TXNP5 thioredoxin pseudogene 5 2 2 2 q23.2 143538881 143539340 - 149924982 149925441 - 149068468 149068927 - 11702225 151276 ABBA01004741;AC073271;AF146023;AMYH02004959;NG_001309 pseudo HGNC:49485 INFERRED 1606823 TXNRD2 thioredoxin reductase 2 This gene encodes a member of the class I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein is a selenocysteine-containing flavoenzyme that maintains thioredoxins in a reduced state, thereby playing a key role in regulating the cellular redox environment. Mammals have three related thioredoxin reductases. This gene encodes a mitochondrial form important for scavenging of reactive oxygen species in mitochondria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2013] 22 22 22 q11.21 3715110 3780635 - 19863040 19929359 - 19875518 19941992 - 5133714;6480464;6907045;5685030;8554872 19128823;20571744 10215850;10455115;10591208;10608886;11012661;11060283;11158331;11463857;12374691;12477932;12530083;12612084;12705894;14702039;15489334;15598662;15625236;15694360;16298692;16424062;16774913;16868544;17395017;17601350;17634480;18029348;18977241;18978041;18996102;19035188;19124506;19595745;19617637;19692168;19896490;19913121;20178852;20378690;20413580;20602615;20628086;20877624;20965815;21172426;21247928;22505724;22683372;22922875;23063346;23597419;24058403;9923614 10587 D3YTF8;D3YTF9;E7ENA2;E7EWK1;Q9NNW7 AB019694;AB019695;AB209724;ABBA01005400;ABBA01005401;ABBA01005402;ABBA01005403;AC000078;AC000090;AF044212;AF106697;AF166126;AF166127;AF171054;AF201385;AK094698;AK097708;AMYH02038051;AMYH02038052;BC007489;BC032029;BC038708;BC099923;BC117354;BX957216;CR749428;NG_011835;NM_001282512;NM_006440;R46611 AAD19597;AAD25167;AAD51324;AAF21431;AAF21432;AAG47635;AAH07489;AAH99923;AAI17355;BAA77601;BAA77602;BAD92961;BAG53517;CAF29507;CAH18266;NP_001269441;NP_006431;Q9NNW7 Hs.443430 1645231;1688773;1797012;2185995;5037552 D8S2279;RH47909;RH80249;SHGC-58266;TXNRD2_1117 SELZ;TR;TR-BETA;TR3;TRXR2 OTTHUMP00000195708;OTTHUMP00000195709;OTTHUMP00000195711;OTTHUMP00000195713;selenoprotein Z;thioredoxin reductase 2, mitochondrial;thioredoxin reductase 3;thioredoxin reductase TR3;thioredoxin reductase beta APPROVED protein-coding ENSG00000184470 HGNC:18155 05921;18519 606448 REVIEWED 7773430 TXNP1 thioredoxin pseudogene 1 10 10 10 q26.11 115173375 115174584 - 121442309 121443518 - 119682797 119684006 - 10826700;11702225 93202 ABBA01062888;AC012468;AF146024;AMYH02023911;NG_001297 pseudo HGNC:49481 INFERRED 8163856 TXNP6 thioredoxin pseudogene 6 4 4 4 q21.1 75181092 75181891 - 77879718 77880517 - 76958565 76959364 - 11702225 171560 ABBA01063370;AC104687;AF357530;AMYH02009522;NG_001330 pseudo HGNC:49486 VALIDATED 1318088 TXNRD3 thioredoxin reductase 3 This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein catalyzes the reduction of thioredoxin, and is implicated in the defense against oxidative stress. It contains a selenocysteine (Sec) residue (which is essential for catalytic activity), encoded by a UGA codon, at the penultimate C-terminal position. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 3 3 3 q21.3 124750511 124798259 - 126325895 126375056 - 126607052 126655124 - 1580863;6480464;6907045 10455115;11259642;12477932;12775843;17601350;18977241;20018845;21906983;22505724;22683372 114112 B4DRZ5;E5RJ58;H0YBI6;H0YBQ0;L7N487;Q86VQ6 ABBA01016386;AC024558;AC078867;AF133519;AF171055;AK299502;AMYH02007592;AMYH02007593;BC030028;BC050032;BQ929894;NM_001173513;NM_052883 AAD39929;AAD51325;AAH30028;AAH50032;BAG61457;NP_001166984;NP_443115;Q86VQ6 Hs.477475 1650596;2168473;2186164;2218126 G31568;SHGC-77314;STS-N36130;TXNRD3_3256 TGR;TR2;TRXR3 OTTHUMP00000222595;OTTHUMP00000222630;thioredoxin and glutathione reductase;thioredoxin glutathione reductase;thioredoxin reductase 2;thioredoxin reductase TR2 APPROVED protein-coding ENSG00000197763 HGNC:20667 606235 REVIEWED 732119 TXNRD1 thioredoxin reductase 1 This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein reduces thioredoxins as well as other substrates, and plays a role in selenium metabolism and protection against oxidative stress. The functional enzyme is thought to be a homodimer which uses FAD as a cofactor. Each subunit contains a selenocysteine (Sec) residue which is required for catalytic activity. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenocysteine-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing results in several transcript variants encoding the same or different isoforms. [provided by RefSeq, Jul 2008] 12 12 12 q23-q24.1 104273262 104408523 + 104609537 104744085 + 104215779 104350307 + 1580529;5133714;5134341;5133729;5685028;5685032;6480464;6907045;5685030 15183196;18515646;18996185;19128823;19409971;19833109;20571744 10383413;10432307;10786696;11353774;11375392;11410332;11737861;11782468;11953436;12214272;12435734;12477932;12574159;12668662;12949356;12968334;13679440;14607844;14676218;14980707;15123685;15199063;15489334;15592455;15824742;15879598;16009940;16169070;16344560;16424062;16481328;16750198;16815975;16868544;16977661;17382897;17512005;17601350;17634480;18029348;18042542;18163424;18187038;18267104;18382651;18483336;18835810;18977241;19020731;19059456;19124506;19322201;19555664;19595745;19620238;19654027;19766715;19820694;19896490;20160040;20536427;20584310;2064786;20877624;20920480;21139048;21172426;21206984;21593104;21693764;21890473;21906983;21963094;21988832;22053931;22230366;22505724;22863883;22939629;22977247;23000965;23063346;23223577;23413027;23512591;23603921;24515614;24778250;24816145;7589432;8554614;8577704;8650234;8921404;8999974;9177183;9207062;9671710;9774665 7296 B2R5P6;B7Z2S5;E2QRB9;E9PIR7;E9PIZ5;E9PJU2;E9PKD3;E9PKI4;E9PLT3;E9PNQ6;E9PQI3;E9PRI8;Q16881 ABBA01053196;ABBA01053197;ABBA01053198;ABBA01053199;ABBA01053200;ABBA01053201;ABBA01053202;ABBA01053203;ABBA01053204;ABBA01053205;ABBA01053206;ABBA01053207;ABBA01053208;AC089983;AC090107;AF077367;AF208018;AI097548;AJ001050;AK128515;AK129977;AK226071;AK293322;AK295067;AK296495;AK304241;AK308881;AK312262;AL701549;AMYH02027093;AMYH02027094;AMYH02027095;AMYH02027096;AY057105;AY344074;AY344077;AY344081;AY344083;AY344084;AY344086;AY344087;AY344089;AY344092;AY344093;AY344095;AY344096;AY344670;AY344673;AY344675;AY344679;BC018122;BC042974;BG772375;BT019640;CH471054;CR536506;D88687;DA238692;DA319870;DA440625;DC351122;DC400503;DC401138;DC418649;DQ157758;NG_029392;NM_001093771;NM_001261445;NM_001261446;NM_003330;NM_182729;NM_182742;NM_182743;S79851;X91247 AAB35418;AAC69621;AAF15900;AAH18122;AAL15432;AAQ62461;AAQ62462;AAQ62463;AAQ62464;AAQ62465;AAQ62466;AAQ62467;AAQ62468;AAQ62469;AAQ62470;AAQ62471;AAQ62472;AAQ62473;AAV38446;AAZ67916;BAA13674;BAC87474;BAG35193;BAH11490;BAH11961;BAH12374;BAH14140;CAA04503;CAA62629;CAG38744;EAW97743;EAW97744;EAW97745;NP_001087240;NP_001248374;NP_001248375;NP_003321;NP_877393;NP_877419;NP_877420;Q16881 Hs.654922 1657463;1663089;1688255;1700570;1797010;5019655;5022322;5022651 D11S2560;D11S2921;G32358;RH103907;RH67044;RH69996;SGC32111;TXNRD1__1216 GRIM-12;MGC9145;TR;TR1;TRXR1;TXNR KM-102-derived reductase-like factor;OTTHUMP00000232986;OTTHUMP00000232988;OTTHUMP00000232990;OTTHUMP00000232992;OTTHUMP00000232993;OTTHUMP00000232996;OTTHUMP00000232997;OTTHUMP00000232999;gene associated with retinoic and IFN-induced mortality 12 protein;gene associated with retinoic and interferon-induced mortality 12 protein;oxidoreductase;thioredoxin reductase 1, cytoplasmic;thioredoxin reductase GRIM-12;thioredoxin reductase TR1 APPROVED protein-coding ENSG00000198431 HGNC:12437 03068 601112 REVIEWED 7774551 TXNP2 thioredoxin pseudogene 2 1 1 1 q31.3 67269648 67270747 - 68979527 68980426 - 68513844 68514743 - 11702225 171416 ABBA01074505;AF357533;AL138789;AMYH02001220;NG_001321 pseudo HGNC:49482 VALIDATED 2796714 TXNRD3NB thioredoxin reductase 3 neighbor INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine 3 3 3 q21.3 124715262 124752014 - 126290622 126327398 - 126571779 126608555 - 6480464 12477932;15588584;15674732 645840 Q6F5E7 AB113648;ABBA01016386;AC024558;AMYH02007590;AMYH02007591;AMYH02007592;BC130546;BC130548;NM_001039783 AAI30547;AAI30549;ADR82822;BAD26752;NP_001034872;Q6F5E7 Hs.477475 1650596;2186164;2218126 G31568;SHGC-77314;TXNRD3_3256 MGC163418;MGC163420;TR2IT1;TXNRD3IT1;TXNRD3NT1 TXNRD3 neighbor gene protein;thioredoxin reductase 2 intronic transcript 1;thioredoxin reductase 3 intronic transcript 1;thioredoxin reductase 3 neighbor gene protein;thioredoxin reductase 3 new transcript 1 APPROVED protein-coding ENSG00000197763 HGNC:33870 PROVISIONAL 1345093 TYMSOS TYMS opposite strand ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; calcitriol 18 18 18 p11.32 524281 533121 - 649620 658340 - 649620 658340 - 6480464;8554872 12477932;16189514;18482256;19913121;20628086;8889548 494514 Q8TAI1 ABBA01049815;ABBA01049816;AK289986;AMYH02034189;AMYH02034190;AP001178;BC028301;BM695182;CH471113;NM_001012716 AAH28301;ADZ15719;BAF82675;EAX01723;NP_001012734;Q8TAI1 Hs.274959 2109167;2138368;2142990 CLUL1_9521;SHGC-31651;WI-22706 C18orf56 putative uncharacterized protein C18orf56 APPROVED protein-coding HGNC:29553 18668 VALIDATED 1343264 TYRL tyrosinase-like (pseudogene) 11 11 11 p11.2 49576748 49587793 - 49426244 49437306 - 49404692 49415754 - 1580863 17355913;1903356;8234203 7300 Q9UMA1 ABBA01060667;AC118942;AC135977;AMYH02024764;M63240;M63241;NG_001529 AAA73001 1678023;1847356;2119613;2190379;2218128;7188805 D11S3987;D11S870-D11S1326;RH40020;RH69108;TYR_3880 pseudo HGNC:12443 191270 INFERRED 1345332 TYRO3P TYRO3P protein tyrosine kinase pseudogene 15 15 15 q24.2 53477852 53478715 - 76551630 76552493 - 76259289 76260152 - 7851890;8262388 7302 ABBA01060549;AC027243;AMYH02030829;NG_007077;NR_028510;X72887 Hs.684881 pseudo HGNC:12447 VALIDATED 1351113 TYROBP TYRO protein tyrosine kinase binding protein This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010] 19 19 19 q13.1 33109494 33113402 - 36395303 36399211 - 35904401 35908515 - 1580863;6480464;7240710;8554872;8699517 10049942;10201920;10449773;10604985;10799849;10888890;10940905;11169398;11602640;11922939;12080485;12207350;12370476;12426564;12426565;12477932;12569153;12591902;12925681;14707061;15294961;15342556;15356118;15489334;15557162;16206234;16339517;16505336;16715077;17012248;17100880;17125796;17202323;17277102;17301953;17530208;19019460;19075187;19120482;19606219;20212065;20301376;20421649;20628624;21263069;21421043;21841309;21967868;22080356;23561520;23715743;23810293;24935923;8889548;9463329;9490415;9655483;9828133;9830044 7305 K7EKK0;K7ES93;O43914;X6RGC9 ABBA01018772;AD000833;AD000864;AF019562;AF019563;AJ010098;AK290385;AMYH02035995;AY074782;BC011175;BI908458;BP295666;BP302545;BP305672;BQ576278;BT009851;CR450342;CR542202;NG_009304;NM_001173514;NM_001173515;NM_003332;NM_198125;NR_033390;XM_006723350 AAD09436;AAD09437;AAH11175;AAL74017;AAP88853;ABM82018;ABM85200;BAF83074;CAB52288;CAG29338;CAG46999;NP_001166985;NP_001166986;NP_003323;NP_937758;O43914;XP_006723413 Hs.515369 1739661;2139518;5092814 A006G29;D19S844E;G32347 DAP12;PLOSL DNAX-activation protein 12;KAR-associated protein;KARAP;TYRO protein tyrosine kinase-binding protein;killer activating receptor associated protein;killer-activating receptor-associated protein APPROVED protein-coding ENSG00000011600 HGNC:12449 04996 221770;604142 REVIEWED 736404 TYRO3 TYRO3 protein tyrosine kinase The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010] 15 15 15 q15 18619191 18639503 + 41851220 41871536 + 41559022 41579338 + 1580531;1580534;1580863;6480464;8554872 10627473;15733062 12477932;12768229;14623883;14702039;15489334;15964779;17005688;18029348;18620092;19805117;20098747;20348395;20467438;20546121;20637106;20664904;21139048;21145461;21163940;21343401;21384080;21496228;21890473;21963094;22119469;22156524;22889411;22939624;22939629;23354874;23570341;23632195;23662598;23865365;24982338;7511603;7537495;7634325;7857658;8108112;8108143;8262388;8621659;8641360;8939948;9175267 7301 H0YKZ2;H0YN24;H0YNK6;H3BPR7;Q06418 AB209431;ABBA01038400;ABBA01038401;AC016134;AK022124;AK131389;AK295496;AMYH02030272;BC029925;BC034960;BC049368;BC051756;CH471125;D17517;D26146;D50479;DB483422;NG_033013;NM_006293;U02566;U05682;X72886 AAA17407;AAA19236;AAH29925;AAH49368;AAH51756;BAA04467;BAA05134;BAA21781;BAD92668;BAG58416;CAA51396;EAW92506;EAW92507;EAW92508;NP_006284;Q06418 Hs.381282 1758707;2107735;2114424;2127487;2149988;2174357;2183511;5015961;5022322;5037552 D11S2560;D15S1348;D15S1477;D8S2279;L29966;SHGC-149210;TYRO3__5172;WI-11946;WI-18782;WI-20018 BYK;Brt;Dtk;FLJ16467;RSE;Sky;Tif OTTHUMP00000160861;tyro3 protein tyrosine kinase 3;tyrosine-protein kinase DTK;tyrosine-protein kinase RSE;tyrosine-protein kinase SKY;tyrosine-protein kinase TIF;tyrosine-protein kinase byk;tyrosine-protein kinase receptor TYRO3 APPROVED protein-coding HGNC:12446 02641 600341 REVIEWED 1351708 TYRP1 tyrosinase-related protein 1 This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009] 9 9 9 p23 12625996 12642868 + 12693385 12710285 + 12693385 12710285 + 1599692;1580863;6480464;6907045;7240710;8554872;8699517 8651291 10952393;11441007;11775055;12011806;12477932;12519123;12643545;12766061;1321344;14623273;14634018;15489334;1575733;1577487;15996218;16344560;16354686;16704458;1673236;16934245;1693779;17071589;17081065;17200659;1769662;17766092;18029348;18312627;18326704;18463683;18488027;18488028;18563784;18680187;19060277;1906272;19240061;19287070;19384953;1945866;19710684;19841138;19865097;19913121;20221248;20585627;20628086;20668223;20861488;2111010;21291857;21324755;21739261;21996312;22045183;22190034;22447455;22556244;22898827;23190901;2324688;23416839;23519055;23548203;23862152;24475287;24529757;7881448;8040609;8530077;9345097;9434945;9447965;9872531 7306 C9JZ52;E7EQI3;P17643 ABBA01065320;ABBA01065321;AF001295;AK297887;AL138753;AL600654;AMYH02019173;AY395736;BC052608;CD679533;CH471071;CR407683;D83059;DA278582;L33830;L38952;NG_011705;NM_000550;X51420;X51455;X60955;XM_005251574 AAC15468;AAC41924;AAH52608;AAR01256;BAA11759;BAG60208;CAA35785;CAA35820;CAA43288;CAG28611;EAW58709;EAW58710;EAW58711;EAW58712;NP_000541;P17643;XP_005251631 Hs.270279 1651023;1654190;1694894;1741663;1744745;2139894;2156796;2182267 D9S1701;G44332;GDB:181637;GDB:555709;RH18096;RH48698;RH69255;RH69338 CAS2;CATB;GP75;OCA3;SHEP11;TRP;TRP-1;TRP1;TYRP;b-PROTEIN 5,6-dihydroxyindole-2-carboxylic acid oxidase;DHICA oxidase;OTTHUMP00000022788;OTTHUMP00000022789;catalase B;glycoprotein 75;melanoma antigen gp75 APPROVED protein-coding ENSG00000107165 HGNC:12450 00283 115501;203290;612271 REVIEWED 1313979 TYMP thymidine phosphorylase This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012] 22 22 22 q13.33 34840208 34844541 - 50964181 50968514 - 50525752 50530085 - 1580863;1601000;2293715;2293718;2293723;2293721;2293727;2293724;2293725;2293714;2293716;2293726;2293720;2293717;2293719;2293722;2325155;2325158;2325156;2325157;2325027;6480464;6907045;7240710;8699517 10685502;10760693;10886088;12556409;12614261;15262124;15628771;15841086;16803522;16854285;16861722;16937303;18348659;18441329;18946757;19671868;19760965;9306962;9924029 10472757;10493829;11041061;11297264;11733540;11920479;11925935;11957147;11986782;11992400;12174926;12177387;12429983;12466967;12477932;12520153;12565868;12639965;12684660;12813027;12820387;12824363;12918063;1400349;14571777;14702039;14702180;14719072;14966914;15069545;15123637;15201953;15254700;15289834;15374822;15375582;15474072;15489334;15571233;15571260;15571282;15607208;1570012;15756429;15756433;15781193;15879300;1590793;15978330;16132996;16198108;16317434;16341674;16369467;16458893;16685420;16798057;16803458;16969493;17103175;1733667;17437622;17497037;17681069;17688376;17854149;17923735;17999375;18019682;18029348;18341568;18359286;18476626;18559600;18725595;18765464;18848756;18922971;18955007;18986516;19023133;19056268;19093516;19295266;19330019;19344718;19555658;19654105;19862010;19913121;2005900;20112501;20139978;20151198;20301358;20355241;20360068;20372793;20488166;20585803;20628086;20714877;20837458;20843780;20955617;21068389;21222488;21252618;21362301;21386840;21586171;21809665;21837996;22321252;22340655;22480737;22534375;22593457;22595739;22610353;22618301;22668509;22751949;22752215;22863883;23160694;23222517;2328255;23813863;24024441;24027750;24250222;24455740;24617035;2467210;25027693;2823522;3549724;8038210;8125298;8164833;8889548;9626068;9857235 1890 B2RBL3;C9JGI3;E5KRG5;P19971 ABBA01042625;AK057214;AK225269;AK298691;AK301194;AK314716;AMYH02038618;BC018160;BC052211;BF338223;BJ995731;BM727471;BM744178;CH471138;HQ205666;HQ205667;HQ205668;HQ205669;HQ205670;HQ205671;HQ205672;HQ205673;HQ205674;HQ205675;HQ205676;HQ205677;HQ205678;HQ205679;HQ205680;HQ205681;HQ205682;HQ205683;HQ205684;HQ205685;HQ205686;HQ205687;HQ205688;HQ205689;HQ205690;HQ205691;HQ205692;HQ205693;HQ205694;HQ205695;HQ205696;HQ205697;HQ205698;HQ205699;HQ205700;HQ205701;HQ205702;HQ205703;HQ205704;HQ205705;M58602;M63193;NG_011860;NG_016235;NM_001113755;NM_001113756;NM_001257988;NM_001257989;NM_001953;U62317 AAA60043;AAB03344;AAH18160;AAH52211;ABM82382;ABM85560;ADP91494;ADP91495;ADP91496;ADP91497;ADP91498;ADP91499;ADP91500;ADP91501;ADP91502;ADP91503;ADP91504;ADP91505;ADP91506;ADP91507;ADP91508;ADP91509;ADP91510;ADP91511;ADP91512;ADP91513;ADP91514;ADP91515;ADP91516;ADP91517;ADP91518;ADP91519;ADP91520;ADP91521;ADP91522;ADP91523;ADP91524;ADP91525;ADP91526;ADP91527;ADP91528;ADP91529;ADP91530;ADP91531;ADP91532;ADP91533;BAG37260;BAG51886;BAG60851;BAG62774;EAW73560;EAW73561;EAW73562;EAW73563;EAW73564;NP_001107227;NP_001107228;NP_001244917;NP_001244918;NP_001944;P19971 Hs.180903 1744375;1747339;2155787;5014063 D15S1390;G65460;GDB:452618;UniSTS:50701 ECGF;ECGF1;MEDPS1;MTDPS1;PDECGF;TP;hPD-ECGF MNGIE;OTTHUMP00000196766;OTTHUMP00000196767;OTTHUMP00000196768;OTTHUMP00000196769;OTTHUMP00000196770;gliostatin;tdRPase APPROVED protein-coding ENSG00000025708 HGNC:3148 08833 131222;603041 REVIEWED 1344016 TYS sclerotylosis ASSOCIATED WITH Sclerotylosis (inferred) 7240710 7303 1335833;1340020;7184030 D4S1544;D4S2966 HGNC:12452 181600 5132397 TYW1P1 tRNA-yW synthesizing protein 1 homolog pseudogene 1 2 2 33342331 33344173 + 33117264 33119106 + 100533847 ABBA01074905;AL133244;AMYH02003561;NG_028887 pseudo HGNC:41905 INFERRED 2303834 TYW1B tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) Wybutosine is a hypermodified guanosine found in phenylalanine tRNA. Wybutosine functions to stabilize codon-anticodon interactions during ribosome decoding and therefore supports the maintenance of the reading frame. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. The human genome contains two closely related genes that putatively function in wybutosine synthesis. The open reading frame of this locus is disrupted in some individuals. Thus, this locus appears to be an evolving pseudogene, but may still be functional in some members of the population. [provided by RefSeq, Apr 2014] 7 7 7 q11.23 1 551 - 72023729 72298813 - 72558744 72828234 - 6480464;8554872 12477932;15489334;16162496;16344560;17150819;20379614;20686565;21890473;21906983;22505724;24097068 441250 Q6NUM6 ABBA01063983;ABBA01063984;ABBA01063985;ABBA01063986;ABBA01063987;ABBA01063988;ABBA01063989;ABBA01063990;AC005236;AC091738;AC092536;AC105447;AC114731;AC114816;AC211469;AI984113;AK294319;AK294401;AK301471;AK303225;AK309556;AK310913;AMYH02016016;AMYH02016017;AMYH02016018;AMYH02016019;BC068520;BC106019;DA769764;NM_001145440;NM_001145441 AAH68520;AAI06020;BAG57593;BAG57654;BAG62990;BAG64312;NP_001138912;NP_001138913;Q6NUM6 Hs.488614 1648680;1673868;1675987;1684612;1725721;1728307;1762339;1767957;1790405;1849150;1854693;1855328;2142138;2142902;2160321;2165296;7186552 D7S1912;D7S2466;D7S2695;D7S2729;D7S3264;G20747;G62119;G63435;GDB:1234300;GDB:1317572;GDB:1317742;RH12723;RH17204;RH79720;SHGC-146181;SHGC-8963 LINC00069;MGC87315;NCRNA00069;RSAFD2 S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase;long intergenic non-protein coding RNA 69;radical S-adenosyl methionine and flavodoxin domain-containing protein 2;radical S-adenosyl methionine and flavodoxin domains 1;tRNA wybutosine-synthesizing protein 1 homolog B;tRNA-yW synthesizing protein 1 homolog B (non-protein coding) APPROVED protein-coding ENSG00000277149 HGNC:33908 REVIEWED 1603913 TYW3 tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008] 1 1 1 p31.1 73444068 73477631 + 75198836 75232361 + 74733143 74766677 + 6480464 12477932;14702039;15489334;16344560;17150819;22589738;22843503;8889548 127253 B4DFU6;Q6IPR3;Q96GE7;V9GY40;V9GZ67 ABBA01074425;AC091611;AK098237;AK294264;AK299849;AK311272;AMYH02001275;BC009514;BC032341;BC071765;BM680331;BX647591;CH471059;DA033034;NM_001162916;NM_138467;NR_027962;XM_006710347 AAH09514;AAH71765;BAC05267;BAG57557;BAG61711;CAI46106;EAX06408;NP_001156388;NP_612476;Q6IPR3;XP_006710410 Hs.348411 1722179;5094354 G54629;G60141 C1orf171;FLJ40918 OTTHUMP00000011215;tRNA wybutosine-synthesizing protein 3 homolog;tRNA(Phe) 7-((3-amino-3-carboxypropyl)-4-demethylwyosine(37)-N(4))-methyltransferase;tRNA-yW-synthesizing protein 3 APPROVED protein-coding ENSG00000162623 HGNC:24757 14036 611245 VALIDATED 1316192 TYK2 tyrosine kinase 2 This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 10356496 10385954 - 10461204 10491248 - 10350528 10380572 - 1580863;1625126;1357942;1357935;5686839;6478796;5688379;6480464;6484113;6907045;7240710;8699517;8554872 12039028;12884916;17312100;21115385;21881215;9314843 10409622;10502458;10531356;10542297;10673353;10899310;10918587;10933219;10954736;10995743;11201744;11294897;11399767;11430697;11694501;11839738;12207328;12477932;12554654;12637327;12719789;12817007;12960323;1386289;14500680;15277531;15322115;15337770;15356134;15489334;15657875;15883164;15944400;16239216;16344560;16551269;17011030;17290288;17384181;17548050;17599733;17703412;17877826;17920038;17937105;18029348;18270328;18456658;18474601;19249008;19254804;19258923;19293837;19423540;19434718;19440814;19464057;19525955;19567624;19653082;19717292;19730683;19758313;19865102;19888296;19966805;20065083;20197570;20301492;20406964;20438785;20478313;20503287;20588308;20628624;20727854;20953190;21102463;21139048;21140222;21178271;21196586;21354972;21471442;2156206;21757742;21829393;21833088;21900206;21906983;21949722;22046141;22087225;22116632;2216457;2247464;22486643;22506826;22592861;22744673;22939624;22961000;23000200;23000965;23128233;23359498;23408403;23471820;23894201;24043623;24390342;24704786;24843152;7510216;7526154;7543024;7579387;7589562;7629131;7657660;7690989;8125298;8432525;8550573;8605877;8609418;8657151;8702790;8780698;9038232;9108397;9196040;9305869;9342324;9374471;9388212;9417082;9484840;9519782;9633884;9733772;9822675;9974409 7297 E9PM19;E9PPF2;E9PQE9;E9PQL2;E9PQM4;H0YCT7;H0YE24;H0YE41;K7EJR6;K7EM33;K7EP98;P29597 ABBA01029932;ABBA01029933;ABBA01029934;AC011557;AK222672;AK303627;AK308360;AK308379;AMYH02035491;AMYH02035492;AY549314;BC014243;CH471106;CR995139;DA864169;NG_007872;NM_003331;X54637 AAH14243;AAS37680;ABM83618;ABM86881;BAD96392;BAG64635;CAA38449;EAW84099;EAW84100;NP_003322;P29597 Hs.75516 1665030;2108621;2157391;2160742 RH70299;STS-X54637;TYK2_8702;WI-7649 IMD35;JTK1 OTTHUMP00000232745;OTTHUMP00000232746;OTTHUMP00000232748;non-receptor tyrosine-protein kinase TYK2 APPROVED protein-coding ENSG00000105397 HGNC:12440 01490 176941;611521 REVIEWED 1604998 TYW5 tRNA-yW synthesizing protein 5 ENCODES a protein that exhibits iron ion binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors; protein homodimerization activity; INVOLVED IN wybutosine biosynthetic process; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; cyclosporin A 2 2 2 q33.1 194548334 194575163 - 200793634 200820459 - 199928911 199955736 - 6480464 12477932;15146197;16712791;20739293;20972222;23974872;8889548 129450 A2RUC4;A8KAJ9 ABBA01062508;ABBA01062509;AC097717;AK095272;AK293064;AK298977;AMYH02005533;BC025758;BC063502;BC132835;BC136837;BC144420;BM673915;BX482572;BX647677;BX648265;CB131724;CH471063;CN261486;HY182974;NM_001039693;NR_004862;NR_109905;NR_109906;NR_109907 A2RUC4;AAH63502;AAI32836;AAI36838;AAY24162;ADR83121;BAC04517;BAF85753;BAG61071;EAW70191;EAW70192;EAW70193;EAW70194;NP_001034782 Hs.204619 1645409;1674206;1684636;2185616;5014051;5015619;5015881;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D2S2826;D2S2838;D8S2278;D8S2279;G31505;GDB:335751;RH98213 C2orf60;FLJ37953;MGC70509;hTYW5 OTTHUMP00000205938;jmjC domain-containing protein;jmjC domain-containing protein C2orf60;tRNA wybutosine-synthesizing protein 5;tRNA yW-synthesizing enzyme 5;tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine(37)-C(2))-hydroxylase APPROVED protein-coding ENSG00000162971 HGNC:26754 08232 VALIDATED 1316504 TYSND1 trypsin domain containing 1 This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013] 10 10 10 q22.1 65176845 65185592 - 71897737 71906496 - 70137981 70146740 - 737633;6480464 12477932 12107412;14702039;16128611;16344560;16385451;17255948;19615732;19946888;20379614;22002062;22190034 219743 Q2T9J0 ABBA01019619;AK074968;AK097697;AL731540;AMYH02023280;BC016840;BC030242;BC042629;BC047424;BC111501;BI829894;CD671353;CH471083;CV805418;DA334145;DA434127;HY013216;NM_001040273;NM_173555;NR_073580;NR_073581;NR_073582;NR_073591;NR_073592;NR_073593;NR_073594;NR_073595 AAH16840;AAH30242;AAI11502;EAW54375;EAW54377;NP_001035363;NP_775826;Q2T9J0 Hs.533655 1658330;1769324;2114240;2161760 D10S1348E;D10S1466;SGC31274;SHGC-30458 FLJ40378;MGC131934;MGC34695;NET41 OTTHUMP00000019737;OTTHUMP00000019738;peroxisomal leader peptide-processing protease;trypsin domain-containing protein 1 APPROVED protein-coding ENSG00000156521 HGNC:28531 15593 611017 REVIEWED 1343980 U2AF1L4 U2 small nuclear RNA auxiliary factor 1-like 4 ENCODES a protein that exhibits metal ion binding (inferred); nucleotide binding (inferred); RNA binding (inferred); INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); spliceosomal complex (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; diazinon 19 19 19 q13.12 32946905 32949813 - 36233428 36236409 - 35742527 35745442 - 1580863;6480464;8554872 11739736;12477932;14702039;16147880;18460468;19322201;20696395;22022969;22505724;23000965;23246698;24250222;24457600;24583282;8586425;8630064;8889548 199746 K7EJH3;K7EJM7;K7EPL9;M0QYK5;M0R1E1;Q8WU68;S4R353;S4R3L8;S4R443 ABBA01018763;AD000671;AI767079;AK092844;AK094213;AK303983;AMYH02035989;AMYH02035990;AY461582;AY569437;BC010865;BC021186;BC049208;BC062474;BM696851;CD175846;DC415103;NG_027934;NM_001040425;NM_144987;NR_110171;NR_110172;NR_110173 AAH21186;AAT72770;ABM83348;ABM86562;BAC03988;BAG64901;NP_001035515;NP_659424;Q8WU68 Hs.351558 1683303 RH99245 FLJ35525;MGC33901;U2AF1-RS3;U2AF1L3;U2AF1L3V1;U2AF1RS3;U2af26 U2 auxiliary factor 26;U2 small nuclear RNA auxiliary factor 1-like 3;U2 small nuclear RNA auxiliary factor 1-like protein 3;U2 small nuclear RNA auxiliary factor 1-like protein 4;U2(RNU2) small nuclear RNA auxiliary factor 1-like 3;U2(RNU2) small nuclear RNA auxiliary factor 1-like protein 3;U2AF1-like protein 3;splicing factor U2AF 26 kDa subunit protein-coding ENSG00000161265 HGNC:23020 03050 601080 VALIDATED 1349504 U2AF1 U2 small nuclear RNA auxiliary factor 1 This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 29665729 29680351 - 44513066 44527716 - 43092956 43107578 - 1580863;6480464;6907045 10830953;11060040;11118443;11448987;11500380;11533230;11551507;11604503;11724776;11830556;11991638;12226669;12234937;12297299;12477932;12777385;1388271;14702039;15096518;15146077;15474994;15489334;15652350;15899895;15950937;16014633;16043505;16189514;16712791;16809543;16855028;16940179;17081983;17207965;17332742;17577209;17643375;18029348;18211889;1824937;18285458;19738201;20514852;21139048;21145461;21424732;21890473;21907836;21963094;21988832;22053931;22118674;22158538;22174317;22178446;22323480;22325350;22365833;22389253;22505724;22939629;22990118;23000965;23029227;23151878;23184937;23280334;23335386;23455924;23602568;23775717;23861105;24097336;24241536;24250222;24389012;24457600;24722188;24816145;25027693;7956352;8261509;8647433;8660980;8816452;9016565;9237760;9472028;9528748;9645944;9671485;9671816;9731529;9799243 7307 Q01081;Q7Z780 AB451244;ABBA01004515;AF370386;AJ627978;AK022152;AK023589;AK094435;AK098266;AK307560;AL832665;AL832781;AP001631;AP001748;AP002085;BC001177;BC001923;BC005915;BC013786;BC032521;CB110007;CH471079;M96982;NG_029455;NM_001025203;NM_001025204;NM_006758 AAA36619;AAH01177;AAH01923;AAH05915;AAQ15222;ADQ32249;BAA95534;BAG70058;CAF29556;CAH10401;EAX09501;EAX09502;EAX09503;EAX09504;EAX09505;EAX09506;NP_001020374;NP_001020375;NP_006749;Q01081 Hs.365116 1660838;1690019;1737929;2152212 D11S3537;RH80644;STS-M96982;STS-W74700 DKFZp313J1712;FP793;RN;RNU2AF1;U2AF35;U2AFBP OTTHUMP00000109423;OTTHUMP00000109424;OTTHUMP00000214620;U2 auxiliary factor 35 kDa subunit;U2 small nuclear RNA auxillary factor 1;U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunit;U2 snRNP auxiliary factor small subunit;U2(RNU2) small nuclear RNA auxiliary factor binding protein;splicing factor U2AF 35 kDa subunit;splicing factor U2AF 35kDa subunit APPROVED protein-coding ENSG00000160201 HGNC:12453 01871 191317 REVIEWED 1345301 TYW1 tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. [provided by RefSeq, Dec 2012] 7 7 7 q11.21 65404719 65654392 - 66461792 66704507 + 66996805 67239520 + 737633;1580863;6480464;8554872 12477932 12853948;14702039;15489334;16162496;17150819;19322201;19850743;20379614;21890473;21906983;22505724;22678362;23503679;23891004;24816145 55253 C9J9Q4;Q9NV66 ABBA01048943;ABBA01048944;ABBA01048945;ABBA01048946;ABBA01048947;ABBA01048948;ABBA01048949;ABBA01048950;ABBA01048951;ABBA01048952;ABBA01048953;ABBA01048954;ABBA01048955;ABBA01048956;ABBA01048957;AC006480;AC073089;AC079920;AK001762;AK022917;AK301330;AMYH02015916;AMYH02015917;AMYH02015918;BC015591;BC042156;BC051888;CH471140;NG_033069;NM_018264;XR_242254 AAH15591;AAH42156;AAH51888;AAS07520;AAS07568;BAA91891;BAB14307;BAG62878;EAX07903;EAX07904;EAX07905;NP_060734;Q9NV66 Hs.520917 1648680;1673868;1675987;1679834;1684612;1725721;1728307;1762339;1767957;1790405;1849150;1854693;1855328;2142138;2142902;2155963;2160321;2165296;2169758;7186552 D7S1912;D7S2466;D7S2695;D7S2729;D7S2908;D7S3264;G20747;G62119;G63435;GDB:1234300;GDB:1317572;GDB:1317742;RH12723;RH17204;RH36140;RH67814;RH79720;SHGC-146181;SHGC-8963 FLJ10900;MGC23001;MGC60291;RSAFD1;TYW1A;YPL207W OTTHUMP00000160137;S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase;radical S-adenosyl methionine and flavodoxin domain-containing protein 1;radical S-adenosyl methionine and flavodoxin domains 1;tRNA wybutosine-synthesizing protein 1 homolog;tRNA-yW synthesizing protein 1 homolog A;tRNA-yW-synthesizing protein APPROVED protein-coding ENSG00000198874 HGNC:25598 07711 611243 REVIEWED 1352439 U3 RNA, U3 small nucleolar p12-p11 10606270;15574332;15574333;2719960;6186397;8440138 6067 K00777;NR_002906;XR_016095;XR_016096 RNU3 snorna 1321740 U2AF2 U2 small nuclear RNA auxiliary factor 2 U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 53207708 53228376 + 56165416 56186082 + 55654050 55674716 + 1580863;6480464;6907045;8554872 10449418;10449420;10593950;10866799;11060040;11118443;11551507;11790298;12176931;12189174;12226669;12234937;12297299;12403470;12456665;12477932;12549820;12718882;12777385;1388271;14576315;15009664;15146197;15231748;1538748;15456888;15635413;15694343;15998806;16014633;16043505;16051665;16055720;16097034;16169070;16189514;16376933;16682775;16713569;16809543;16940179;17024186;17081983;17137510;17188295;17289029;17332742;17353931;1824937;18285458;18508922;18729074;18842594;18974054;19244360;19574390;20696395;20811636;21145461;21146534;21182205;21252943;21536736;21549307;21566083;21725067;21753750;21835928;21890473;21907836;21963094;21988832;22053931;22325350;22365833;22569250;22586326;22702716;22792276;22939629;22990118;23000965;23017209;23151878;23166591;23273425;23374342;23376934;23602568;24130170;24250222;24389012;24457600;24816145;25027693;8647433;8816452;9016565;9150140;9237760;9242493;9447963;9472028;9512519;9528748;9645944;9671485;9731529;9784496 11338 K7ELP8;K7ENG2;M0QYQ9;P26368 AB451261;AB451387;ABBA01020860;ABBA01020861;ABBA01020862;AC008735;AK311672;AMYH02036473;BC008740;BC030574;CH471135;CN364862;NG_032904;NM_001012478;NM_007279;X64044;XM_006722994 AAH08740;AAH30574;ADZ15397;BAG70075;BAG70201;CAA45409;EAW72402;EAW72403;EAW72404;NP_001012496;NP_009210;P26368;XP_006723057 Hs.528007 1678451;2108623 RH92186;U2AF2_7999 U2AF65 U2 (RNU2) small nuclear RNA auxiliary factor 2;U2 auxiliary factor 65 kDa subunit;U2 small nuclear ribonucleoprotein auxiliary factor (65kD);U2 snRNP auxiliary factor large subunit;hU2AF(65);hU2AF65;splicing factor U2AF 65 kD subunit;splicing factor U2AF 65 kDa subunit APPROVED protein-coding ENSG00000063244 HGNC:23156 01872 191318 REVIEWED 1321645 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ENCODES a protein that exhibits uridylyltransferase activity (inferred); INVOLVED IN metabolic process (inferred); PARTICIPATES IN amino sugar metabolic pathway; nucleotide sugar metabolic pathway; INTERACTS WITH crocidolite asbestos; ethyl methanesulfonate; formaldehyde 9 9 9 q34.3 110485412 110492449 + 139971944 139978990 + 137077492 137084538 + 6480464;6907045 12477932;14702039 91373 Q3KQV9;Q8TEI1 ABBA01022740;AK022632;AK074143;AK095393;AK128529;AL807752;AL832421;AMYH02021922;BC010529;BC012838;BC041644;BC106035;BC136391;BX333979;CH471090;CR979381;NM_207309;XM_006717317 AAI06036;AAI36392;BAB84969;BAC87482;BAG53040;CAH10651;EAW88340;EAW88341;EAW88342;EAW88343;NP_997192;Q3KQV9;XP_006717380 Hs.142076 RP11-229P13.18 OTTHUMP00000022652;OTTHUMP00000162550;UDP-N-acetylhexosamine pyrophosphorylase-like protein 1;UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 APPROVED protein-coding ENSG00000197355 HGNC:28082 15596 VALIDATED 1319461 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 ENCODES a protein that exhibits carbohydrate binding (inferred); UDP-N-acetylglucosamine diphosphorylase activity (inferred); INVOLVED IN cellular protein metabolic process (inferred); dolichol-linked oligosaccharide biosynthetic process (inferred); post-translational protein modification (inferred); PARTICIPATES IN amino sugar metabolic pathway; hexosamine biosynthetic pathway; nucleotide sugar metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol (inferred); INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2,3,7,8-tetrachlorodibenzodioxine; benzene 1 1 1 q23.3 135634340 135672681 + 162531296 162570379 + 162561506 162599843 + 1625539;1580863;6480464;6907045;8554872 15466941 11707391;12477932;15489334;16710414;16712791;18029348;18976975;19322201;19536175;21139048;21757351;21890473;21906983;22939629;23000965;24654937;24816145;8025165;9603950;9621304;9765219 6675 Q16222 AB011004;ABBA01047303;AK312685;AL596325;AMYH02002042;AMYH02002043;AW136085;BC009377;CB125476;CH471067;NM_003115;S73498;XM_005245462;XM_005245465 AAB31210;AAH09377;BAA31202;BAG35565;EAW90710;EAW90711;EAW90712;NP_003106;Q16222;XP_005245519;XP_005245522 Hs.492859 1726251;2133297;2162331;2172454;5093694 A009V08;G32869;G42369;RH68601;WI-13441 AGX;AGX1;AGX2;SPAG2 OTTHUMP00000032325;OTTHUMP00000032326;OTTHUMP00000032327;UDP-N-acetylhexosamine pyrophosphorylase;antigen X;sperm associated antigen 2;sperm-associated antigen 2 APPROVED protein-coding ENSG00000117143 HGNC:12457 04178 602862 VALIDATED 1346000 TYR tyrosinase The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008] 11 11 11 q14.3 85603013 85720910 - 88911040 89028927 + 89177872 89295759 + 1599686;1599687;1580863;6480464;6907045;7240710;8694343;8694355;8554872;8694336;8694345;8694390;8694395;8694409;8694324;8694327;8694335;8694339;8694337;8694346;8699517;8694353;8694340;8694334;8694338;8694387;8694352;8694384 11092039;15007389;15250938;15760344;1642278;19141317;19436266;19843244;20447099;20876567;2112453;21906913;22088535;22097729;22294196;22834951;2567165;7704033;8197131;8609659;8697641;8996965 10094567;10571953;10671066;10766867;10823941;10987646;11092760;11153699;11214319;11295837;11532853;11710942;11720436;11812790;11858948;12028586;12477932;12519123;12565907;12579416;12643545;12710945;12727022;12817591;12925214;14623273;14634018;1487241;15146472;15210908;15381243;15489334;15635296;15677452;15716956;15838343;15854130;15885985;15958486;16056219;16162817;16272362;16417222;16447258;16477373;16517127;16565383;16737954;16907708;17081065;1711223;17200659;17265558;17496782;17496783;17516931;17718595;17766092;17850513;17952075;17999355;18181974;18296661;18326704;1832718;18337837;18390556;18425346;18457359;18463683;18478240;18488027;18563784;18636124;18676680;18701257;18791269;18821858;18845991;1899321;1900307;1900309;1903356;1903591;1905879;19060277;19170196;19208379;19320745;19336006;19340012;19342661;19360691;19384953;1943686;19578364;19625176;19626598;19692168;1970634;19710684;19865097;20006830;20083666;20301345;20410501;20426782;20585627;20588308;20861488;20861851;2113511;21197618;21199683;2120217;21541274;21983787;22042571;22259223;22402439;22447455;22464347;22531911;22561518;22895365;22898827;23085273;23165166;23242301;23326517;2342539;23548203;23884313;24040225;24118800;2480811;2499655;2504160;2511845;2823263;2854305;3146546;5516239;666627;7902671;7955413;8040609;8128955;8234203;8340755;8477259;8644824;8889548;9158138;9259202 7299 L8B082;P14679;Q9UMA2 AB775899;AB775900;AB775901;ABBA01011523;ABBA01011524;ABBA01011525;AF237811;AMYH02025268;AP000720;AY012019;BC027179;BU736025;CH471185;J03581;KC201429;KC201430;KC201431;KC201433;KC201434;KC201435;KC201436;KC201437;KC201438;KC201439;KC201440;KC201441;KC201442;KC201443;KC201444;KC201445;KC201446;KC201447;KC201448;KC201449;KC201450;KC201451;KC201452;KC201453;KC201454;KC201455;KC201456;KC201457;KC201458;KC201459;KC201463;KC201466;KC201471;KC201472;KC201475;KC201476;KC201477;KC201478;KC201479;KC201481;KC201483;KC201484;KC201485;KC201486;KC201487;KC201488;KC201489;KC201490;KC201491;KC201492;KC201493;KC201494;KC201495;KC201496;KC201497;KC201498;KC201499;KC201502;KC201503;KC201504;KC201505;KC201506;KC201507;KC201508;KC201509;KC201511;KC201512;KC201513;KC201514;KC201515;KC201516;KC201517;KC201518;KC201519;KC201520;KC201521;KC201522;KC201523;KC201524;KC201525;KC201526;KC201527;KC201528;KC201529;KC201530;KC201531;KC201532;KC201533;KC201534;KC201535;KC201536;KC201537;KC201538;KC201539;KC201541;KC201547;KC201552;KC201555;KC201556;KC201557;KC201558;KC201559;KC201560;KC201561;KC201562;KC201563;KC201564;KC201565;KC201567;KC201568;KC201569;KC201571;KC201573;KC201574;KC201575;KC201576;KC201577;KC201578;KC201579;KC201580;KC201581;KC201582;KC201583;KC201584;KC201585;KC201586;KC201587;KC201588;M27160;M63239;M74314;NG_008748;NM_000372;S66645;S66648;U01873;X16073;Y00819 AAA61241;AAA61242;AAA61244;AAB37227;AAB60319;AAD13984;AAD13985;AAG38762;AAH27179;AAK00805;AGV39051;AGV39052;AGV39053;AGV39055;AGV39056;AGV39057;AGV39058;AGV39059;AGV39060;AGV39061;AGV39062;AGV39063;AGV39064;AGV39065;AGV39066;AGV39067;AGV39068;AGV39069;AGV39070;AGV39071;AGV39072;AGV39073;AGV39074;AGV39075;AGV39076;AGV39077;AGV39078;AGV39079;AGV39080;AGV39081;AGV39085;AGV39088;AGV39093;AGV39094;AGV39097;AGV39098;AGV39099;AGV39100;AGV39101;AGV39103;AGV39105;AGV39106;AGV39107;AGV39108;AGV39109;AGV39110;AGV39111;AGV39112;AGV39113;AGV39114;AGV39115;AGV39116;AGV39117;AGV39118;AGV39119;AGV39120;AGV39121;AGV39124;AGV39125;AGV39126;AGV39127;AGV39128;AGV39129;AGV39130;AGV39131;AGV39133;AGV39134;AGV39135;AGV39136;AGV39137;AGV39138;AGV39139;AGV39140;AGV39141;AGV39142;AGV39143;AGV39144;AGV39145;AGV39146;AGV39147;AGV39148;AGV39149;AGV39150;AGV39151;AGV39152;AGV39153;AGV39154;AGV39155;AGV39156;AGV39157;AGV39158;AGV39159;AGV39160;AGV39161;AGV39163;AGV39169;AGV39174;AGV39177;AGV39178;AGV39179;AGV39180;AGV39181;AGV39182;AGV39183;AGV39184;AGV39185;AGV39186;AGV39187;AGV39189;AGV39190;AGV39191;AGV39193;AGV39195;AGV39196;AGV39197;AGV39198;AGV39199;AGV39200;AGV39201;AGV39202;AGV39203;AGV39204;AGV39205;AGV39206;AGV39207;AGV39208;AGV39209;AGV39210;BAM75356;BAM75357;BAM75358;CAA34205;CAA68756;EAW59356;EAW59357;NP_000363;P14679 Hs.503555 1678023;1688616;1740929;1741003;1741095;1741535;1741927;1742589;1743435;1745751;1778342;1791776;1847356;2113982;2119613;2167849;2190379;2191633;2218128;7186994;7188805 D11S2042;D11S3987;D11S870-D11S1326;G15819;GDB:176315;GDB:177333;GDB:177754;GDB:181433;GDB:186844;GDB:197911;GDB:320031;GDB:635861;MARC_31609-31610:1062097014:1;PMC125271P1;RH40016;RH40020;RH69108;TYR;TYR_3880 ATN;CMM8;LB24-AB;OCA1;OCA1A;SHEP3;SK29-AB OCAIA;OTTHUMP00000235653;monophenol monooxygenase;oculocutaneous albinism IA;tumor rejection antigen AB APPROVED protein-coding ENSG00000077498 HGNC:12442 06086 103470;203100;601800;606933;606952 REVIEWED 1602133 UBA2 ubiquitin-like modifier activating enzyme 2 Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010] 19 19 19 q12 31631712 31673210 + 34919264 34960798 + 34428359 34469893 + 6480464;6907045 10187858;10217437;11230166;11451954;11481243;11792325;12477932;12641448;12821332;12924945;12941704;14673145;14702039;15302935;15489334;15546615;15660128;15983381;16169070;16189514;16455490;16620772;16679534;17353931;18680593;18691969;19246003;19307308;19471022;20501649;21139048;21209321;21252943;21518904;21693764;21890473;21906983;22157079;22403398;22863883;22884621;22939629;23000965;23095757;23824909;24250222;24318982;24797263;24816145;25027693;9853615;9920803 10054 K7EPL2;K7ES38;K7ESK7;Q9UBT2;U3KQ55;U3KQ93 AB015337;AB208872;ABBA01018719;ABBA01018720;AC008747;AF079566;AF090384;AF110957;AK023120;AK024114;AK124730;AK299514;AK315521;AL136905;AMYH02035958;AMYH02035959;AMYH02035960;AMYH02035961;AMYH02035962;BC003153;BG503066;BG678201;BM556031;BT009781;CR456756;NM_005499;U35832;XM_005258403;XM_005258404;XM_006722962 AAC99992;AAD12784;AAD23914;AAD24434;AAH03153;AAP88783;ABM84349;ABW03558;BAA34795;BAD92109;BAG37902;BAG51158;BAG51265;BAG54081;BAH13056;CAB66839;CAG33037;NP_005490;Q9UBT2;XP_005258460;XP_005258461;XP_006723025 Hs.631580 2107737;5016681;5108100 A002Q31;Bdy27d05;UBA2__5175 ARX;FLJ13058;HRIHFB2115;SAE2 SUMO-1 activating enzyme subunit 2;SUMO-activating enzyme subunit 2;SUMO1 activating enzyme subunit 2;UBA2, ubiquitin-activating enzyme E1 homolog;anthracycline-associated resistance ARX;ubiquitin-like 1-activating enzyme E1B;ubiquitin-like modifier-activating enzyme 2 APPROVED protein-coding ENSG00000126261 HGNC:30661 11658 613295 VALIDATED 4892414 U2SURP U2 snRNP-associated SURP domain containing ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN RNA processing (inferred); PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (-)-demecolcine; (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine 3 3 3 q23 141143870 141202968 + 142720366 142779567 + 143001524 143060725 + 6480464;6907045;8554872 12234937;12421765;12477932;12938929;14702039;17314511;17332742;18029348;19471022;20020773;20360068;21139048;21145461;21182205;21693764;21890473;21906983;21963094;22365833;22412018;22586326;22939629;22952844;22990118;23166591;23741361;24332808;24550385;24778252;24816145;9205841 23350 C9J5L1;C9JB80;C9JDJ7;E7ET15;E7EW00;H0Y8D9;H7C4P4;H7C4V2;O15042;U3KPT1 AB002330;ABBA01059016;ABBA01059017;AC018450;AC026304;AK057679;AK074327;AK296440;AMYH02007826;BC006474;BC016323;BC028110;BC045744;BC062727;BC105604;BC111692;BK000564;NM_001080415;XM_005247246;XM_005247248;XM_005247249 AAH06474;AAH16323;AAI05605;AAI11693;BAA20790;BAG59093;DAA00075;NP_001073884;O15042;XP_005247303;XP_005247305;XP_005247306 Hs.596572 1647237;1651813;1673029;1725207;1725647;1847724;1847726;1854892;2106643;2140040;2140504;2184918;2190531;5491599 A006A24;D3S2362;EST17D12;G20651;G62100;MARC_23929-23930:1032289482:1;RH118896;RH12741;RH66197;RH68747;SR140__5311;STS-N23755;STS-N93625;WI-16414 KIAA0332;MGC133197;SR140 140 kDa Ser/Arg-rich domain protein;OTTHUMP00000214847;OTTHUMP00000222446;Ser/Arg-rich domain protein, 140 kDa;U2 associated SR140 protein;U2 snRNP-associated SURP motif-containing protein;U2-associated SR140 protein;U2-associated protein SR140;fSAPa;functional spliceosome-associated protein a protein-coding ENSG00000163714 HGNC:30855 PROVISIONAL 1352491 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats INVOLVED IN intrinsic apoptotic signaling pathway in response to DNA damage (inferred); intrinsic apoptotic signaling pathway in response to oxidative stress (inferred); negative regulation of inflammatory response (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; mitochondrion; INTERACTS WITH (-)-epigallocatechin 3-gallate; bisphenol A; cisplatin 15 15 15 q22-q24 47837778 47946745 - 70946893 71055932 - 70654554 70763593 - 1580863;6480464;8554872 10997877;11162650;12421765;12477932;14702039;15146197;15302935;15358194;15489334;15604093;16730941;17003112;18029348;19056867;19240061;20085233;20360068;20473970;21139048;21890473;21963094;21987572;22294699;22407486;22939629;23333304;23398456;23932459;24457600;8889548 55075 F5H2B9;H0YMI1;H0YN48;H0YNH8;Q05DB3;Q9BZF9 AB046781;ABBA01038753;ABBA01038754;AC009269;AC087699;AF322916;AK000990;AK055435;AK057207;AL834243;AL834464;AMYH02030712;AMYH02030713;AMYH02030714;AMYH02030715;AMYH02030716;AMYH02030717;AMYH02030718;BC016881;BC113407;BC113409;BC143266;BC143267;BM693348;BU736944;CH471082;CN303461;NM_001008224;NM_018003;XM_005254527;XM_005254528;XM_005254529 AAG49577;AAH16881;AAI13408;AAI13410;AAI43267;AAI43268;BAA91457;BAB13387;BAB70922;CAD38920;CAD39123;EAW77853;EAW77854;EAW77855;NP_001008225;NP_060473;Q9BZF9;XP_005254584;XP_005254585;XP_005254586 Hs.108049 1651085;1689003;1719397;1768071;1852730;2159179;5022578;5037552 D15S1354;D1S1423;D8S2279;RH123427;RH98418;SHGC-56623;STS-H82872;STS-N26051 FLJ10128;KIAA1561;MGC141967;MGC141969 NUCLING;OTTHUMP00000164515;nuclear membrane binding protein;uveal autoantigen with coiled coil domains and ankyrin repeats protein-coding ENSG00000137831 HGNC:15947 11657 612516 VALIDATED 1604847 UBA1 ubiquitin-like modifier activating enzyme 1 The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008] X X X p11.23 51245489 51269819 + 47050199 47074527 + 47190800 47215128 + 6480464;6907045;7240710;8554872;8699517 11447495;11846513;12477932;12883554;12938929;1376922;14702039;14733918;15202508;15247261;15302935;1544321;15489334;15576338;15592455;15852347;1606621;16169070;16196087;16227972;16263121;16595681;16712842;16713569;16964243;17060614;17550899;17580310;17597759;17686993;17956732;17980597;18029348;18179898;1845793;18661401;18678647;1871145;18781797;19019082;19056867;19135240;19471022;19723899;19850743;1986373;20004025;20301739;20360068;20639865;20653130;21081666;21139048;21145461;21252943;21319273;21890473;21900206;21906983;21963094;21987572;21988832;22053931;22069333;22145905;22190034;22279528;22350887;22370482;22427669;22434192;22456334;22505724;2265617;22797925;22863883;22939629;22999844;23000965;23003343;2323223;23349634;23524849;23801757;23824909;23862649;2390975;24399297;24583282;24816100;24816145;24849605;24912152;24969970;25026213;25027693;2842867;3390177;7673335;7724583;8051045;8550581;8573590;8634298;8663123;9467000;9644242 7317 P22314;Q5JRR6;Q5JRR9;Q5JRS0;Q5JRS1;Q5JRS2;Q5JRS3 ABBA01052312;ABBA01052313;ABBA01052314;AF258566;AJ003111;AK097343;AK131341;AK293161;AK296866;AL513366;AMYH02039272;AMYH02039273;BC009900;BC013041;BC020261;BG703038;BI547207;CH471164;M58028;NG_009161;NM_003334;NM_153280;X52897;X56976;XM_005272648;XM_005272649;XM_005272650 AAA61246;AAG23769;AAH13041;ABW03513;ABW03826;BAG53454;BAG56705;BAG59429;CAA05866;CAA37078;CAA40296;EAW59290;EAW59291;EAW59292;EAW59293;NP_003325;NP_695012;P22314;XP_005272705;XP_005272706;XP_005272707 Hs.533273 1670216;1691586;1769170;1774603;2108167;2126857;2131073;2189405;2220546;5037552;5097203 AL031251;AL032564;D8S2279;DXS6974E;G42694;INE1_8829;MARC_4929-4930:991938967:3;RH18112;RH48434;UniSTS:484337;WI-18308 A1S9;A1S9T;A1ST;AMCX1;CFAP124;GXP1;MGC4781;POC20;SMAX2;UBA1A;UBE1;UBE1X A1S9T and BN75 temperature sensitivity complementing;OTTHUMP00000023197;OTTHUMP00000023198;POC20 centriolar protein homolog;UBA1, ubiquitin-activating enzyme E1 homolog A;ubiquitin-like modifier-activating enzyme 1 APPROVED protein-coding ENSG00000130985 HGNC:12469 02440 301830;314370 REVIEWED 68482 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome. [provided by RefSeq, Jul 2008] 19 19 19 p13.1-p12 18584823 18590479 + 18674576 18688270 + 18563766 18577460 + 6480464;8554872 10527495;10882101;10995389;11031247;11163799;11231585;11285280;11597332;11875025;11916981;11931757;12367500;12477932;12609980;12787561;12791267;12857745;12960054;12962325;1330885;14528304;14564014;14567916;15029244;15057824;15189156;15231748;15276183;15721744;15761153;15936278;16199891;16396496;16712791;16763556;16997282;17203973;17620599;17897319;1850507;18655026;20639865;20936779;20972266;21139048;21853274;21890473;21900206;21906983;21907836;21963094;21987572;22053931;22145905;22268729;22505724;22623428;22939629;23000965;23246001;23874603;23973329;24139988;24250222;24816145;25027693;2537304;2581967;3037496;8012384;8107144;8188300;8702753;8722009;8889548;9582194 7311 M0R1M6;M0R1V7;M0R2S1;P62987;Q3MIH3;Q7Z4P3 ABBA01051272;AC005253;AF348700;AF545864;AK057790;AK314717;AMYH02035735;BC101830;BC101832;BC143668;BQ428515;BQ428688;BU677484;CB124676;CH471106;DQ479851;NG_023288;NM_001033930;NM_003333;X56997;X56998;X56999;XM_005260050;XM_005260051;XM_005260052;XM_005260053;XM_005260054;XM_006722871;Y00361;Z57470 AAC25582;AAI01831;AAI01833;AAI43669;AAK31162;AAP97731;ABE96835;BAG37261;CAA40312;CAA40313;CAA40314;CAA68439;EAW84715;EAW84716;EAW84717;EAW84718;NP_001029102;NP_003324;P62987;XP_005260107;XP_005260108;XP_005260109;XP_005260110;XP_005260111;XP_006722934 Hs.5308 1678655;1701590;1725615;2167914;5015619;5021226;5022651;5037552 D11S2921;D11S3114;D14S594;D8S2279;G62023;RH104429;RH92993;RP_L40 CEP52;HUBCEP52;L40;MGC126879;MGC126881;MGC57125;RPL40 60S ribosomal protein L40;ribosomal protein L40;ubiquitin carboxyl extension protein 52;ubiquitin-52 amino acid fusion protein;ubiquitin-60S ribosomal protein L40;ubiquitin-CEP52 APPROVED protein-coding ENSG00000221983 HGNC:12458 08931 191321 REVIEWED 1349898 UBA52P1 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 1 7 7 7 p15.2 25717901 25718575 - 25729016 25729690 - 25689396 25690070 - 1330885;19123937 7312 ABBA01056735;AC005165;AMYH02015386;CH236948;M62405;NG_001207 RPL40_1_796 pseudo HGNC:12459 INFERRED 1350773 UBA52P2 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 2 14 14 14 q11.2 1732443 1732982 + 21866947 21867486 + 21398788 21399327 + 1330885;19123937 7313 ABBA01061245;AL161747;AMYH02028838;M62406;NG_001208;NG_021249 RPL40_4_1339 pseudo HGNC:12460 INFERRED 1347449 UBA52P3 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 3 14 14 14 q23.1 38657912 38658432 + 58607956 58608476 + 58141238 58141758 + 19123937 122837 ABBA01018247;AL121579;AMYH02029269;NG_002524 RPL40_5_1373 pseudo HGNC:20056 INFERRED 2305186 UBA52P4 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 4 3 3 3 p22 27464018 27464385 + 27527741 27528108 + 27486250 27486617 + 19123937 100271030 ABBA01024999;AC099535;AMYH02006442;NG_010942;NG_032673 RPL40_1_352 pseudo HGNC:35929 INFERRED 2305185 UBA52P5 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 5 8 8 8 q24.13 120438131 120438495 + 124249092 124249456 + 123236852 123237216 + 19123937 100271031 ABBA01037870;AC068228;AMYH02018703;NG_010950 RPL40_2_948 pseudo HGNC:36993 INFERRED 2304383 UBA52P6 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 6 9 9 9 p21.3 21950319 21950907 + 22011949 22012537 + 22011950 22012538 + 19123937 100130239 ABBA01065171;AL354709;AMYH02019292;NG_010990;NG_023297 1725615;1745869;1791382 G62023;GDB:679533;PMC108944P1 RPL40_3_969 pseudo HGNC:36763 INFERRED 2305675 UBA52P7 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 7 12 12 12 q24.21 115659534 115659913 - 116030409 116030788 - 115592604 115592983 - 19123937 100128617 ABBA01019991;AC009803;AMYH02027272;NG_010545 RPL40_2_1281 pseudo HGNC:36615 INFERRED 2304804 UBA52P8 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 8 16 16 16 q12 32875969 32876352 - 48368382 48368765 - 48334471 48334854 - 19123937 100271343 ABBA01000916;AC023818;AMYH02031980;NG_011237 RPL40_3_1481 pseudo HGNC:35625 INFERRED 2304803 UBA52P9 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 9 18 18 18 q11.2-q12.1 21745791 21746133 - 24935386 24935728 - 27355422 27355764 - 19123937 100271344 ABBA01022560;AC021382;AMYH02034465;NG_011241 RPL40_4_1591 pseudo HGNC:36169 INFERRED 1323296 UBA5 ubiquitin-like modifier activating enzyme 5 This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. A pseudogene located on chromosome 1 has also been identified. [provided by RefSeq, Jul 2008] 3 3 3 q22.1 130798783 130822433 + 132373290 132397467 + 132654446 132678623 + 6480464 11076863;11230166;11256614;12477932;14702039;15071506;15489334;15489336;16189514;16328888;16344560;16381901;18029348;18442052;20368332;20562859;21139048;21304510;21900206;21906983;22863883;22939629;23383273;24816145;24966333;8889548 79876 C9J0F6;C9J5W5;C9JRV9;D6RJC9;E7EQ61;E7EWE1;Q9GZZ9 AB154406;ABBA01059180;ABBA01059181;AC020632;AK026904;AK027563;AK056238;AK129616;AK310239;AL136757;AL832669;AMYH02007689;AY253672;BC009737;BC048015;BM541647;BQ581736;BU739244;CH471052;DB082596;DB457433;NM_024818;NM_198329;XM_005247787;XM_006713752 AAH09737;AAP79600;BAB15587;BAB55199;BAD15375;CAB66691;CAL37403;CAL38002;EAW79189;EAW79190;EAW79191;EAW79192;NP_079094;NP_938143;Q9GZZ9;XP_005247844;XP_006713815 Hs.170737 1657461;1666732;1671177 SHGC-35962;STS-H07121;STS-Z40704 FLJ17281;FLJ23251;FLJ23251UBA5;THIFP1;UBE1DC1 OTTHUMP00000216393;OTTHUMP00000216394;OTTHUMP00000217048;OTTHUMP00000217050;UBA5, ubiquitin-activating enzyme E1 homolog;UFM1-activating enzyme;ubiquitin-activating enzyme 5;ubiquitin-activating enzyme E1 domain-containing protein 1;ubiquitin-activating enzyme E1-domain containing 1;ubiquitin-like modifier-activating enzyme 5 APPROVED protein-coding ENSG00000081307 HGNC:23230 15598 610552 REVIEWED 7296846 UBA6-AS1 UBA6 antisense RNA 1 (head to head) 4 4 4 q13.2 66029390 66050589 + 68566996 68588223 + 67701278 67722505 + 12477932;14702039;16344560 550112 ABBA01022900;AC079880;AK093682;AK129519;AMYH02009378;BC043376;DA770515;NR_015439 Hs.479879 ncrna ENSG00000248049 HGNC:49083 VALIDATED 1346576 UBAC1 UBA domain containing 1 INVOLVED IN protein ubiquitination (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; extracellular vesicular exosome; Golgi apparatus; INTERACTS WITH 5-aza-2'-deoxycytidine; copper atom; copper(0) 9 9 9 q34.3 109342762 109371166 - 138824815 138853226 - 135932969 135961380 - 6480464;8554872 10857748;12477932;15164053;15231748;15489334;15531880;15746103;16189514;16227581;16310047;17353931;17500595;18029348;19013454;19056867;19953087;20639865;21139048;21832049;21890473;21906983;21963094;22053931;22939629;23275563;8619474;9110174 10422 Q9BSL1 ABBA01030049;AF038200;AF068195;AF176796;AL355574;AMYH02021886;BC004967;BC011822;BX647463;CH471090;NM_016172 AAC21559;AAD51084;AAH04967;AAH11822;ABM83493;ABM86708;EAW88187;EAW88188;EAW88189;EAW88190;NP_057256;Q9BSL1 Hs.9194 2108975;2151886;2164704;5015404;5015619;5015881;5016478;5020946;5022200;5022588;5037552 A008Y26;D11S3114;D5S1597E;D8S2279;GDB:335751;GDB:434012;L17705;L17971;L18426;SHGC-13536;UBADC1_9106 GBDR1;RP11-432J22.3;UBADC1 E3 ubiquitin-protein ligase subunit KPC2;OTTHUMP00000022563;UBA domain-containing protein 1;glialblastoma cell differentiation-related protein 1;kip1 ubiquitination-promoting complex protein 2;putative glialblastoma cell differentiation-related protein;ubiquitin associated domain containing 1;ubiquitin-associated domain-containing protein 1 protein-coding ENSG00000130560 HGNC:30221 12170 608129 VALIDATED 1605374 UBA6 ubiquitin-like modifier activating enzyme 6 Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008] 4 4 4 q13.2 65943873 66029283 - 68481479 68566889 - 67615761 67701171 - 6480464;6907045 11076863;11230166;11256614;12477932;14702039;15202508;15231748;15489334;15489336;15815621;16381901;17550899;17580310;17597759;17889673;18353650;19322201;20639865;20975683;21139048;21890473;21906983;21963094;22347407;22427669;22505724;22797925;22863883;22939629;22999844;23000965;23003343;23036196;24654937;24816145;8889548 55236 A0AVT1;H0Y8S8;H0Y9U5 AB014773;ABBA01022900;AC079880;AC096720;AK001670;AK027020;AK094164;AK094969;AK314371;AL596839;AL832015;AL832458;AMYH02009377;AMYH02009378;AW451445;AY359880;BC031637;BC126484;BC126486;BM973988;CH471057;EF623993;NM_018227;XM_006714253 A0AVT1;AAH31637;AAI26485;AAI26487;AAQ63403;AAY40999;ABR25253;BAA91824;BAB19785;BAC04463;BAG37000;BAG52833;CAD89908;CAD89959;CAL37551;EAX05549;EAX05550;EAX05551;EAX05552;EAX05553;NP_060697;XP_006714316 Hs.212774 1675897;1687305;1690133;1718833;1739161;1752447;2178640;2183451 A005E33;D4S2752;RH123120;RH28546;RH93660;RH98488;SHGC-106392;SHGC-52778 E1-L2;FLJ10808;FLJ23367;MOP-4;UBE1L2 OTTHUMP00000159634;UBA6, ubiquitin-activating enzyme E1;monocyte protein 4;ubiquitin-activating enzyme 6;ubiquitin-activating enzyme E1-like 2;ubiquitin-activating enzyme E1-like protein 2;ubiquitin-like modifier-activating enzyme 6 APPROVED protein-coding HGNC:25581 13341 611361 VALIDATED 732334 TYMS thymidylate synthetase Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using 5,10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occuring antisense transcript rTSalpha (GeneID:55556) vary inversely when cell-growth progresses from late-log to plateau phase. [provided by RefSeq, Jul 2008] 18 18 18 p11.32 532413 547810 + 657590 673499 + 657604 673499 + 1580863;1545055;1300048;2315839;2317413;2317418;5133433;5133431;5133430;6480464;6907045;7242561 10226549;10523711;11554613;17848948;22332074;9635926;9894005 11102983;11251009;11251164;11278511;11316879;11329255;11445856;11697906;11747337;11799066;11804689;11937185;11989786;11992400;12018454;12067974;12084458;12084459;12084460;12084461;12084462;12147691;12215845;12220503;12239455;12466474;12477932;12530000;12576451;12576452;12604405;12640689;12684695;12706868;12782596;12845668;12859954;12907731;12972956;14519634;14519641;14576935;14578129;14586640;14656021;14702180;14745930;14760062;14967037;14970324;14977639;15093541;15115918;15161716;15198953;15213713;15231747;15244514;15251465;15259039;15260847;15284183;15316940;15355920;15386366;15386371;15457444;15459215;15489334;15504738;15510613;15571262;15571263;15571283;15579479;15585623;15598787;15677700;15682292;15713801;15735113;15736425;15788669;15797993;15817609;15897576;15930032;15952572;15953655;15985285;15993511;15999119;16030402;16045580;16051637;16077970;16079077;16130010;16132996;16141798;16162288;16182121;16188144;16219137;16234002;16242255;16259621;16284371;16317430;16328059;16328315;16333305;16334126;16365025;16424979;16447238;16456808;16467096;16575011;16580699;16596248;16609021;16617381;16622263;16675565;16722845;16723031;16773218;16920564;16929515;17000685;17018589;17065089;17181924;17187508;17201138;17203168;1720706;17220568;17273745;17290389;17311259;17317154;17367411;17369151;17372271;17377791;17385677;17395259;17410198;17417073;17439323;17449906;17454638;17512053;17546637;17549369;17551301;17581305;17596206;17655928;17659576;17661145;17684410;17684476;17688376;17716232;17854149;17891500;17971770;18095031;18098291;18174236;18177869;18192902;18203297;18221821;18245544;18267032;18274813;18281538;18285546;18299612;18322994;18336674;18365142;18370400;18381794;18406541;18427977;18430179;18448328;18458991;18498133;18505590;18510611;18540691;18584349;18589584;18593893;18597678;18600534;18607581;18629514;18635682;18636124;18642643;18669903;18676680;18676755;18677108;18704422;18722050;18728661;18781797;18785313;18830263;18855534;18976010;18983896;18985814;18988749;18989779;18990369;18992148;19020309;19020759;19020767;19048631;19064578;19074750;19082493;19147506;19154585;19159907;19161160;19162321;19170196;19190136;19295264;19306093;19307503;19332728;19339270;19339911;19374805;19384296;19426394;19427504;19444465;19460136;19471022;19493349;19513514;19546880;19568409;19571608;19619240;19621386;19625176;19632929;19636001;19651439;19672780;19692168;19722231;19724871;19738201;19748501;19750576;19751277;19774638;19822515;19837268;19850635;19858398;19858780;19885596;19888426;19898266;19913121;19917450;19956635;19998340;20012317;20047592;20061047;20101025;20112501;20122156;20151707;20165956;20177420;20180013;20216541;20235210;20237949;20306339;20310006;20331623;20368715;20371218;20372850;20372856;20381446;20385995;20387074;20447923;20453000;20458436;20501373;20504250;20515563;20530282;20531375;20544798;20565774;20570913;20571234;20580582;20615890;20628086;20628382;20628391;20634891;20638924;20647221;20647341;20651387;20665215;20670920;20714149;20714877;20734048;20737570;20815815;20819423;20824655;20837458;20932673;20944490;20962453;20966539;20970877;21036767;21043562;21048041;21057378;21064161;21111509;21131780;21139048;21167658;21188629;21206062;21245530;21254360;21262916;21269855;21282454;21321092;21347782;21362378;21460376;21463130;21471424;21550658;21570215;21603981;21605004;21618517;21643952;21716147;21730794;21788964;21811101;21824439;21848426;21890473;21900206;21906983;21919605;21947036;21948461;21956592;21963094;21965773;21987572;22006578;22074251;22110208;22143355;22166040;22172489;22233820;22270332;22307944;22384047;22388795;22397721;22407825;2243092;22486600;22496803;22502681;22505724;22551903;22576918;22580655;22593457;22623428;22641663;22713864;22763757;22819905;22825513;22863883;22866924;22882943;22887475;22895141;22901148;22938428;22939629;23000965;23098521;23148637;23217244;23249808;23263912;23336575;23350714;23468971;23523421;23645741;23652803;23675481;23710599;23722170;23726796;23736036;23810585;23838799;23903781;23930679;23968134;24040222;24067998;24100087;24123038;24277474;24347111;24415354;24455740;24457236;24590654;24654937;24800948;24816145;2532645;2656695;2987839;3839505;8125298;8449516;8845352;9148948 7298 P04818;Q53Y97 AB062290;AB077207;AB077208;ABBA01049816;ABBA01049817;AK223372;AK292620;AK314140;AMYH02034190;AP001178;BC002567;BC013919;BC018858;BC083512;BT006811;CH471113;D00517;D00596;HC907497;NG_028255;NM_001071;X02308 AAH02567;AAH13919;AAH83512;AAP35457;ABM83075;BAA00404;BAA00472;BAB83676;BAB83677;BAB93473;BAD97092;BAF85309;BAG36830;CAA26178;CBN68109;EAX01716;EAX01717;EAX01718;EAX01719;EAX01720;EAX01721;EAX01722;NP_001062;P04818 Hs.369762 1646236;1658975;1669735;1674810;1681738;1741603;1742961;1797014;1848893;1848895;1853432;5093726 A009V35;D18S1240;D18S1296;D18S1308;G32887;GDB:181558;GDB:217066;RH11010;RH79165;RH93239;STS-X67098;TYMS_1340 HST422;MGC88736;TMS;TS OTTHUMP00000162195;TSase;thymidylate synthase APPROVED protein-coding ENSG00000176890 HGNC:12441 01774 188350 REVIEWED 737348 UBA3 ubiquitin-like modifier activating enzyme 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p14.1 69031987 69057632 - 69103881 69129524 - 69054730 69080373 - 634396;6480464;6907045 11818503 10207026;10409428;10722740;11076863;11230166;11256614;12477932;12646924;12740388;14690597;14702039;15361859;15489334;15489336;15694336;16169070;16381901;16400609;16503656;16620772;17220875;17353931;18264111;18652489;19250909;19549727;19615732;21139048;21145461;21890473;21906983;21963094;22404213;22505724;22821745;22863883;22939629;23000965;23455924;24654937;24816145;25015289;9694792 9039 B7Z5F6;F8W8D4;F8WAT6;F8WF86;Q8TBC4 AB012190;ABBA01030898;AC092060;AC109587;AF046024;AK002159;AK289392;AK298878;AK314751;AK316540;AL117566;AMYH02007013;BC022853;BG940987;CD700642;CH471055;CR533537;JC212133;NM_003968;NM_198195 AAC27648;AAH22853;ABM84093;ABM87464;BAA33144;BAF82081;BAG37290;BAG51021;BAH12892;BAH14911;CAB55996;CAG38568;CAL37771;CAL37966;CDM22118;EAW65470;NP_003959;NP_937838;Q8TBC4 Hs.154320 1652234;1854447;2108627;2167006;5092738 A005V36;G32297;SHGC-77074;UBE1C_8886;WI-12011 DKFZp566J164;MGC22384;NAE2;UBE1C;hUBA3 NEDD8-activating enzyme E1 catalytic subunit;NEDD8-activating enzyme E1 subunit 2;NEDD8-activating enzyme E1C;Nedd8-activating enzyme hUba3;OTTHUMP00000205507;OTTHUMP00000205508;OTTHUMP00000205509;UBA3, ubiquitin-activating enzyme E1 homolog;ubiquitin-activating enzyme 3;ubiquitin-activating enzyme E1C (UBA3 homolog, yeast);ubiquitin-activating enzyme E1C (homologous to yeast UBA3);ubiquitin-like modifier-activating enzyme 3 APPROVED protein-coding ENSG00000144744 HGNC:12470 04413 603172 REVIEWED 6481036 UBAC2-IT1 UBAC2 intronic transcript 1 (non-protein coding) 100874318 AL160155 miscrna HGNC:39685 1323278 UBAC2 UBA domain containing 2 INVOLVED IN protein localization to endoplasmic reticulum; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 13 13 13 q32.3 80696241 80882354 + 99852679 100038753 + 99200425 99386499 + 6480464;8554872 11991713;12477932;14702039;15057823;15489334;16169070;16196087;16303743;17342744;20379614;21139048;21700618;21890473;21906983;21918955;21963094;21987572;22119785;22455605;22505724;22939629;23000965;23128233;23760507;24250222 337867 A8K2S7;Q5JUH4;Q8NBM4;X6R5E5 ABBA01027122;ABBA01027123;ABBA01027124;ABBA01027125;ABBA01027126;ABBA01027127;AF339812;AI866141;AK054563;AK055110;AK075419;AK075516;AK124404;AK129861;AK290342;AK300908;AL136961;AL159981;AL160155;AMYH02028588;AMYH02028589;BC053346;BC063559;BC072674;BC121138;BC121139;BC143265;CH471085;CQ834234;CQ834236;CQ834238;CS051229;KF455816;NM_001144072;NM_177967;NR_026644;XM_006719947;XM_006719948;XM_006719949 AAH63559;AAH72674;AAI21139;AAI21140;BAB70757;BAC11609;BAC11665;BAF83031;BAG51469;BAG54036;BAH13373;CAH05332;CAH05333;CAH05334;CAI72110;EAX09010;EAX09011;EAX09012;EAX09013;EAX09014;EAX09015;EAX09016;NP_001137544;NP_808882;Q8NBM4;XP_006720010;XP_006720011;XP_006720012 Hs.508545 1336083;1650186;1654579;1663712;1675575;1738941;1744301;1782862;1795724;1797614;2144549;2144687;2152221;2166990;2181640;2186593;2219504;5014051;5015619;5022200;5022651;5037552 D11S2921;D11S3114;D13S1284;D14S792;D8S2278;D8S2279;EBI2_25;G15934;GDB:451604;GPR18_2306;L08177;L18426;PHGDHL1__5684;RH11268;RH1615;RH44801;RH98849;SHGC-145779;SHGC-31753;STS-AA011560;WI-18159;WI-18855 FLJ26351;FLJ30001;FLJ30548;FLJ42413;MGC90487;PHGDHL1 OTTHUMP00000018615;OTTHUMP00000018616;RP11-178C10.1;UBA domain-containing protein 2;phosphoglycerate dehydrogenase like 1;phosphoglycerate dehydrogenase-like protein 1;ubiquitin-associated domain-containing protein 2 protein-coding ENSG00000134882 HGNC:20486 VALIDATED 1604544 UBALD1 UBA-like domain containing 1 INTERACTS WITH cyclosporin A; dibutyl phthalate (ortholog); furan (ortholog) 16 16 16 p13.3 4867738 4873782 - 4658884 4664927 - 4608883 4614926 - 6480464 12477932;14702039;15489334;15498874;16169070;17207965 124402 D3DUE0;K7EKR5;K7EKZ4;K7EM52;K7EM88;K7EQ49;Q8TB05 ABBA01026781;AC023830;AF370434;AF447881;AK055785;AK056747;AMYH02031326;AW015675;BC008681;BC012018;BC025327;BC040160;BC062534;CH471112;NM_145253 AAH12018;AAH25327;AAH62534;AAQ04656;AAQ15270;ADQ32191;EAW85284;EAW85285;EAW85286;EAW85287;EAW85288;NP_660296;Q8TB05 Hs.513313 5022651;5037552 D11S2921;D8S2279 FAM100A;FLJ31223;FLJ32185;PP11303 OTTHUMP00000159846;UBA-like domain-containing protein 1;family with sequence similarity 100, member A;hypothetical protein LOC124402 APPROVED protein-coding ENSG00000153443 HGNC:29576 14025 VALIDATED 1318027 UBA7 ubiquitin-like modifier activating enzyme 7 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008] 3 3 3 p21 49808165 49816714 - 49842638 49851391 - 49805205 49813958 - 1580863;6480464;6907045 10709110;11157743;11891284;12477932;12665801;1311632;14976209;16009940;16169070;16254333;16428300;16884686;18057259;18356159;18583345;19074853;20307617;20601676;20975683;21297633;21670151;22505724;22693631;23465077;24811749;7734949;8327486;8940097 7318 P41226 ABBA01024574;AC139451;AF294032;AMYH02006759;BC006378;BM152341;BT007026;CA425139;CH471055;L13852;NM_003335;XM_005265430;XM_006713321 AAA75388;AAG49557;AAH06378;AAP35672;ABM84233;ABM84633;EAW65023;EAW65024;NP_003326;P41226;XP_005265487;XP_006713384 Hs.16695 1699234;1743663;1854966;2153220 GDB:365672;RH103198;RH17798;SGC33684 D8;MGC12713;UBA1B;UBE1L;UBE2 OTTHUMP00000212701;UBA1, ubiquitin-activating enzyme E1 homolog B;UBA7, ubiquitin-activating enzyme E1;ubiquitin-activating enzyme 7;ubiquitin-activating enzyme E1 homolog;ubiquitin-activating enzyme E1-like;ubiquitin-activating enzyme E1-related protein;ubiquitin-activating enzyme-2;ubiquitin-like modifier-activating enzyme 7 APPROVED protein-coding ENSG00000182179 HGNC:12471 01873 191325 REVIEWED 1605547 UBALD2 UBA-like domain containing 2 INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 17 17 17 q25.1 70855214 70861308 + 74261286 74267379 + 76265205 76271298 + 6480464 12477932;15489334;18976975 283991 K7EMI7;K7ERK7;Q8IYN6 ABBA01028750;AC015801;AMYH02034008;BC035511;BC060859;BU167469;CH471099;CT004974;NM_182565 AAH35511;AAH60859;ABW03765;EAW89383;NP_872371;Q8IYN6 Hs.744981 1767379;2149012 RH79079;SHGC-64300 FAM100B;MGC29814;MGC71792 OTTHUMP00000163501;UBA-like domain-containing protein 2;family with sequence similarity 100, member B;hypothetical protein LOC283991 APPROVED protein-coding ENSG00000185262 HGNC:28438 14533 VALIDATED 1313064 UBAP1 ubiquitin associated protein 1 This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 9 9 9 p13.3 34110844 34184366 + 34179003 34252521 + 34179005 34252523 + 6480464 11076863;11230166;11256614;11599797;12050802;12451983;12477932;14702039;15164053;15342556;15489334;15489336;16226037;16344560;16381901;19217189;19285159;20670673;21129243;21139048;21757351;21890473;21906983;21963094;22405001;22479182;22863883;22939629;23000965;24284069;8125298 51271 Q9NZ09 ABBA01065015;ABBA01065016;ABBA01065017;ABBA01065018;AF222043;AK074426;AK074724;AK074745;AK074812;AK074969;AK074995;AK223235;AK295482;AK303711;AK309329;AL136733;AL353662;AMYH02019440;AMYH02019441;AMYH02019442;AMYH02019443;BC020950;BC098141;BC098316;BC099726;BC100668;BF527586;BP237024;BX473128;CH471071;CQ782977;CQ783698;CR533551;DA741347;NM_001171201;NM_001171202;NM_001171203;NM_001171204;NM_016525;NR_033243;XM_006716779 AAF37827;AAH20950;AAH98141;AAH98316;AAH99726;AAI00669;ABM82616;ABM85799;BAC11162;BAC11176;BAC11224;BAC11323;BAC11342;BAD96955;BAH12084;BAH14025;CAB66667;CAF86203;CAF86817;CAG38582;CAL38740;EAW58467;EAW58468;EAW58469;EAW58470;NP_001164672;NP_001164673;NP_001164674;NP_001164675;NP_057609;Q9NZ09;XP_006716842 Hs.268963 1342403;1680124;1681342;1846814;2110011;2134527;2173554;2173556;2178712;2191379;5022578;5113164 A002D31;A004W30;A006S12;D1S1423;D9S1805;G19961;MARC_20663-20664:1033587320:1;RH16034;RH66189;RH91523;RH98457;UBAP1_9693 MGC119669;MGC8710;NAG20;UAP;UBAP;UBAP-1 OTTHUMP00000000480;OTTHUMP00000000481;OTTHUMP00000000482;nasopharyngeal carcinoma-associated gene 20 protein;ubiquitin-associated protein 1 APPROVED protein-coding ENSG00000165006 HGNC:12461 15597 609787 REVIEWED 1323319 UBAP2 ubiquitin associated protein 2 The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 9 9 9 p13.3 33853492 33980727 - 33921691 34048947 - 33921693 34048949 - 6480464 10737800;10819331;12477932;12975309;14702039;15144186;15164053;15489334;15592455;15951569;16055720;16344560;19446021;19615732;20670673;21139048;21145461;21906983;21963094;22939629;23000965;23739027;24550385;24654937;24778252;8871400 55833 A2A305;A2A306;A6NCA8;B4DH66;B4E0R5;B7Z7P2;F5H2U4;H0YDN2;Q5JV08;Q5T6F2;Q9P0H6 AB040924;AB209911;ABBA01065028;ABBA01065029;ABBA01065030;ABBA01065031;ABBA01065032;ABBA01065033;ABBA01065034;ABBA01065035;AF157327;AK025357;AK025801;AK026088;AK057564;AK074884;AK125935;AK128424;AK294952;AK299183;AK302335;AK302754;AK303493;AL139113;AL354989;AMYH02019429;AMYH02019430;AMYH02019431;AMYH02019432;AMYH02019433;AMYH02019434;AMYH02019435;AMYH02019436;AY358682;BC007890;BC037416;BC041077;BC111409;BC111762;BE410205;BF332025;BG723831;CR933678;DA504980;NM_001282529;NM_001282530;NM_018449 AAF67493;AAH07890;AAI11763;AAQ89045;BAA96015;BAC11266;BAD93148;BAG51935;BAG54267;BAG58027;BAG61228;BAG63966;BAG64527;BAH13678;CAI45972;NP_001269458;NP_001269459;NP_060919;Q5T6F2 Hs.493739 1654852;1677062;1679103;1722351;1752785;1763693;2147083;2152612;2166115;2166117;5016781;5122888 A005R21;G20439;G60244;HSC0VF042;RH46060;RH48714;RH68587;RH76619;RH98316;SHGC-106682;SHGC-147368;SHGC-67307 FLJ22435;FLJ43947;FLJ46567;KIAA1491;UBAP-2;bA176F3.5 AD-012 protein;OTTHUMP00000000473;ubiquitin-associated protein 2 APPROVED protein-coding ENSG00000137073 HGNC:14185 06748 REVIEWED 5482548 UBAC2-AS1 UBAC2 antisense RNA 1 INTERACTS WITH formaldehyde 13 13 13 q32.3 80692190 80696573 - 99848628 99853011 - 99196374 99200757 - 6480464 11991713;14702039;16344560 100289373 ABBA01027127;AF339765;AK097488;AL159981;AMYH02028588;AW978140;BC043515;DB032212;DB446060;NR_036531;NR_036532 Hs.225914 2127870 WI-11495 APPROVED ncrna ENSG00000228889 HGNC:42502 VALIDATED 1347287 UBBP1 ubiquitin B pseudogene 1 2 2 2 q14.3 130799995 130800505 - 137086870 137087572 - 136329300 136330002 - 2154095;3029682 7315 ABBA01028150;AC112255;AMYH02004864;NG_002284;X04801 pseudo HGNC:12464 INFERRED 1605914 UBASH3B ubiquitin associated and SH3 domain containing B This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 119685695 119844497 + 122526398 122685187 + 122655690 122814479 + 6480464 11853319;12370296;12477932;12665801;14702039;15159412;15388581;15489334;16303743;16344560;16429130;17588522;17599067;17675467;17880946;18189269;18271526;19322201;19380743;20379614;20585042;20686565;21139048;21906983;21963094;22267732;22505724;22745667;23000965;23784775;23956138;24097068;24722188;24797263;8125298;8889548;9790534 84959 Q8TF42 AB075839;ABBA01031282;ABBA01031283;ABBA01031284;ABBA01031285;ABBA01031286;AF425252;AK075203;AK092011;AK222843;AK222846;AL833092;AMYH02025704;AMYH02025705;AMYH02025706;AMYH02025707;AP002762;BC007541;CA313832;CH471065;CQ783295;CR741636;DA197468;HI573876;KF455553;NM_032873;XM_005271712 AAH07541;AAL16953;BAB85545;BAC11468;BAD96563;BAD96566;CAF86506;CBX47427;EAW67531;NP_116262;Q8TF42;XP_005271769 Hs.444075 1336525;1648399;1666495;1686238;1721093;1731569;1737201;1737949;1764747;1779774;1779776;2126201;2177472;7185419 D11S1269;D11S1336;D11S2064;D11S3069;D11S3556;DXS8337;G09553;G59531;RH99018;SHGC-148327;SHGC-153746;SHGC-153747;SHGC-54247 KIAA1959;MGC15437;STS-1;STS1;TULA-2;p70 Cbl-interacting protein Sts-1;OTTHUMP00000231738;SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate;T-cell ubiquitin ligand 2;cbl-interacting protein p70;nm23-phosphorylated unknown substrate;suppressor of T-cell receptor signaling 1;tyrosine-protein phosphatase STS1/TULA2;ubiquitin-associated and SH3 domain-containing protein B APPROVED protein-coding ENSG00000154127 HGNC:29884 16463 609201 VALIDATED 1321132 UBASH3A ubiquitin associated and SH3 domain containing A This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 21 21 21 q22.3 28972990 29016745 + 43823971 43867790 + 42403862 42447712 + 1580863;6480464;8554872 11281453;12477932;14968112;15107835;15159412;15489334;16344560;16429130;16780588;17382318;17588522;17599067;17709377;17880946;18006034;18189269;18344182;18840781;18854154;19073967;19380743;19430480;19585081;20410501;20453842;20494980;20647273;21383967;21829393;22505724;22776074;23565265;24390342 53347 P57075 AA707211;ABBA01004543;ABBA01004544;ABBA01014169;ABBA01014170;AF520809;AF521702;AJ277750;AK301279;AK308151;AK313367;AMYH02037871;AMYH02037872;AP001624;BC028138;BC069357;BC069483;BC069511;BC069577;CH471079;CQ834170;DA926085;KF510565;NG_029750;NM_001001895;NM_001243467;NM_018961;XM_006724013;XR_244316 AAH28138;AAH69357;AAH69483;AAH69511;AAP80731;AAP80738;BAG62839;CAB91543;CAH05300;EAX09560;EAX09561;EAX09562;EAX09563;NP_001001895;NP_001230396;NP_061834;P57075;XP_006724076 Hs.473912 1730898;1768508;1790599;2107739 D21S19;SHGC-13352;STS_CEB237;UBASH3A__5176 CLIP4;STS-2;TULA;TULA-1 OTTHUMP00000109366;OTTHUMP00000109367;OTTHUMP00000109368;T-cell ubiquitin ligand 1;T-cell ubiquitin ligand protein;cbl-interacting protein 4;suppressor of T-cell receptor signaling 2;ubiquitin-associated and SH3 domain-containing protein A APPROVED protein-coding ENSG00000160185 HGNC:12462 06904 605736 REVIEWED 1352261 UBBP2 ubiquitin B pseudogene 2 1 1 1 q32 191247065 191247490 - 218023601 218024025 - 217850259 217850683 - 3029682 23668 ABBA01048110;AL445428;AMYH02002704;NG_002287;X04802 pseudo HGNC:12465 INFERRED 1344008 UBB ubiquitin B This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 17 17 17 p12-p11.2 16187292 16188979 + 16284367 16286059 + 16380793 16382745 + 6480464;6907045;7240710;8699517;8554872 10066798;10827953;10871850;10882101;10995389;11031247;11046148;11046155;11087859;11087860;11112487;11146632;11173499;11231585;11285280;11320250;11597332;11603807;11742988;11790298;11931757;11991975;12016299;12055595;12070128;12207904;12218189;12234927;12239347;12354939;12367500;124018;12421820;12477932;12507430;12593796;12609980;12610113;12682062;12787561;12791267;12820959;12853446;12857950;12871580;12883554;12893422;12960054;1370760;14528304;14612456;14695475;14701804;14722266;14745543;14755250;14764729;15029244;15057824;15070733;15105460;15120077;15125833;15143060;15149598;15218035;15231748;15276183;15324660;15342556;15452314;15466860;15469821;15469984;15489334;15694335;15721744;15761153;15781449;15826667;15885686;15886351;15994808;16023596;16027724;16118204;16123592;16129784;16137618;16169070;16174773;16189514;16209941;16226712;16247449;16252010;16267042;16286470;16288044;16407252;16407834;16429130;16443603;16499958;16510124;16543144;1657614;16581786;16625196;16630834;16651270;16701206;16712842;16763556;16775314;16808324;16874301;16904669;16931761;16997282;17047224;17067581;17081983;17114425;17203973;17237936;17290220;17310990;17323924;17395554;17405812;17440617;17558393;17609272;17620599;17662948;17719541;17719543;17803915;17931355;17936559;18029035;18082604;18274552;18313049;1850507;18596088;18655026;18719106;19193609;19214209;19516896;19608861;19738201;19754430;20205790;20491623;20603015;20639865;20826778;20972266;21059367;21110914;21139048;21145461;21237244;21378163;21480003;2154095;21544573;21565611;21659531;21676867;21690091;21890473;21906983;21963094;21987572;22053931;22078707;22082077;22100894;22101367;22266820;22279058;22285184;22492721;22505724;22623428;22681887;22797007;22990118;23000965;23254330;23349634;23383273;23443559;23548901;23798571;24022007;24457600;24654937;24816145;25015289;25027693;2537950;2581967;2820408;2988935;3029682;3041007;6092831;6261785;6275256;8087846;8107144;8166633;8275493;8702753;8889548;8917096;9422699;9488668;9504932;9525617;9644242;9660940 7314 B4DV12;J3QKN0;J3QS39;J3QSA3;P0CG47;Q5U5U6 AA659395;AB089617;ABBA01035654;AC093484;AK129498;AK300882;AMYH02033076;BC000379;BC009301;BC015127;BC026301;BC031027;BC038999;BC046123;BG548604;BG718912;BM554254;BM662083;BP307496;BT020104;BU596366;BU661443;CH471222;DB480830;FB775576;HY014043;NG_023320;NM_001281716;NM_001281717;NM_001281718;NM_001281719;NM_001281720;NM_018955;X04803 AAH00379;AAH09301;AAH15127;AAH26301;AAH31027;AAH38999;AAH46123;AAV38907;BAC56955;BAG62524;CAA28495;CAV30745;EAX04501;EAX04502;EAX04503;EAX04504;EAX04505;EAX04506;NP_001268645;NP_001268646;NP_001268647;NP_001268648;NP_001268649;NP_061828;P0CG47 Hs.356190;Hs.730603;Hs.741549 1666610;1678515;1736678;1741377;2174326;5109589 D17S1503E;D2S1561E;GDB:180946;RH1659;RH66787;STS-X04803 FLJ25987;MGC8385;RPS27A;UBA52;UBC OTTHUMP00000064959;polyubiquitin B;polyubiquitin-B;ubiquitin APPROVED protein-coding ENSG00000170315 HGNC:12463 06771 119540;191339 REVIEWED 1349521 UBBP3 ubiquitin B pseudogene 3 2 2 2 q22.3 143335127 143335502 - 149620995 149621370 - 148863426 148863801 - 2154095;3029682;3035490 23667 ABBA01028000;AC105402;AMYH02004958;NG_002286;Y00332 1751819;5016053 D17950;SHGC-105838 pseudo HGNC:12466 INFERRED 1346838 UBBP4 ubiquitin B pseudogene 4 FOUND IN cytoplasm (inferred); INTERACTS WITH (S)-nicotine (ortholog); 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (ortholog); 17alpha-ethynylestradiol (ortholog) 17 17 17 p11.2 19846820 19848706 + 21729865 21731757 + 22203650 22205156 + 6480464 2154095;2834222 23666 J3KSM4;J3QL68;J3QLP7;J3QRK5;K7EMA8 ABBA01006763;AC138761;AMYH02033200;NG_002285;X07499 1678515 RH66787 pseudo HGNC:12467 INFERRED 6481543 UBBP5 ubiquitin B pseudogene 5 13 13 87871259 87871524 + 87219004 87219269 + 100873783 ABBA01027279;AL162576;AMYH02028418;NG_032525 pseudo HGNC:42645 INFERRED 1354268 UBAP2L ubiquitin associated protein 2-like ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN binding of sperm to zona pellucida; ASSOCIATED WITH Melanoma (inferred); FOUND IN Ada2/Gcn5/Ada3 transcription activator complex; INTERACTS WITH 17beta-estradiol; 2-methylcholine; aflatoxin B1 1 1 1 q21.3 127264371 127315051 + 154192427 154243986 + 154220172 154271510 + 1580863;6480464;8554872 11230159;12421765;12477932;14667819;15144186;15302935;15489334;15592455;16009940;16055720;16094384;16710414;16713569;16964243;17081983;17148452;18838386;19322201;19738201;19945174;20200978;20237496;21139048;21145461;21182205;21890473;21906983;21963094;21987572;22053931;22505724;22586326;22623428;22939629;23000965;23349634;23602568;23824909;24457600;24816145;25015289;8590280 9898 B4DYY5;F8W726;H0Y5H6;H7C2T8;Q14157;Q5VU77;Q5VU78;Q5VU79;Q5VU80;Q5VU81 ABBA01049476;AJ243668;AJ243669;AJ243670;AK124294;AK302662;AK302953;AK303533;AL590431;AMYH02001919;AMYH02001920;BC003170;CH471121;D63478;DC369803;DC404293;NM_001127320;NM_001287815;NM_001287816;NM_014847;XM_005245658;XM_005245667;XM_005245668;XM_005245669;XM_005245670;XM_005245672;XM_005245673;XM_005245674;XM_006711679;XM_006711680;XM_006711681;XM_006711682;XM_006711683;XM_006711684;XM_006711685;XM_006711686;XM_006711687;XM_006711688;XM_006711689 AAH03170;BAA09765;BAG63897;BAG64108;BAG64560;CAB65099;CAB65100;CAB65101;EAW53213;EAW53214;EAW53215;EAW53216;EAW53217;EAW53218;EAW53219;EAW53220;NP_001120792;NP_001274744;NP_001274745;NP_055662;Q14157;XP_005245715;XP_005245724;XP_005245725;XP_005245726;XP_005245727;XP_005245729;XP_005245730;XP_005245731;XP_006711742;XP_006711743;XP_006711744;XP_006711745;XP_006711746;XP_006711747;XP_006711748;XP_006711749;XP_006711750;XP_006711751;XP_006711752 Hs.490551 1660718;1660720;1739155;1781372;1781538;1851181;1851248;2125146;2155114 Cda13d03;D1S2274;D1S3020;RH18226;RH36191;RH44951;SHGC-104553;SHGC-143399;SHGC-33740 FLJ42300;KIAA0144;NICE-4 OTTHUMP00000034204;OTTHUMP00000034205;ubiquitin-associated protein 2-like protein-coding ENSG00000143569 HGNC:29877 06665 VALIDATED 1350880 UBDP1 ubiquitin D pseudogene 1 6 6 6 p22.1 31038496 31038781 - 29432452 29432722 - 29464675 29464945 - 100286971;387062 ABBA01038032;AL645927;AL662869;AMYH02013412;BX000531;BX247947;BX927133;CR388393;CR759768;CR759956;NG_027532 dJ994E9.3 pseudo HGNC:18796 INFERRED 69468 UBD ubiquitin D ENCODES a protein that exhibits proteasome binding; INVOLVED IN aggresome assembly; myeloid dendritic cell differentiation; positive regulation of apoptotic process; FOUND IN aggresome; nucleus; cytoplasm (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 6 6 6 p21.3 31129472 31133785 - 29523389 29527702 - 29555612 29559925 - 724702;1580863;6480464 9368598 10200259;11087859;11087860;11112487;11991975;12477932;12610113;12730673;12883554;14574404;14757770;15489334;15761153;15831455;15994808;16344560;16495226;16495380;16707496;16712791;16775314;16808324;17067581;17889673;17971048;18574467;19028597;19033385;19185524;19303852;19437562;19726511;19808075;19851445;19959714;20587610;20975683;21090589;21121635;21351261;21396347;21631897;21757738;22025632;22072791;22164771;22281738;22292662;22347407;22349260;22402871;22412388;22427669;22434192;22569823;22797925;23036196;23416168;23602568;23812429;23862649;24440736;24492942;24528925;8662070;9525617 10537 O15205 AA878968;ABBA01038033;AF123050;AK311914;AL031983;AL645936;AL662826;AMYH02013412;BC012472;BX000688;BX927223;CB111380;CH471081;CR759766;CR759770;CR788300;CR942274;DB181897;NM_006398;Y12653 AAD52982;AAH12472;ABM85550;BAG34855;CAA21458;CAA73200;EAX03201;NP_006389;O15205 Hs.44532 1657219;1682535 RH93792;STS-N33920 FAT10;GABBR1;UBD-3 OTTHUMP00000029427;diubiquitin;ubiquitin-like protein FAT10 protein-coding ENSG00000213886 HGNC:18795 09354 606050 VALIDATED 1349785 UBE2CP1 ubiquitin-conjugating enzyme E2C pseudogene 1 14 14 14 q12 11017844 11018632 - 31152068 31152856 - 30682862 30683650 - 326105 ABBA01061403;AL121852;AMYH02028937;NG_002528 pseudo HGNC:19670 INFERRED 1349526 UBE2B ubiquitin-conjugating enzyme E2B The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 129830646 129851595 + 133706843 133727799 + 134371179 134392108 + 1600438;6480464;6907045 9497253 10373550;10884424;10908344;11714696;11885984;11929833;12477932;12524449;12776193;14585983;14981545;15001359;15359278;15489334;1559696;16169070;16344560;16595681;16824193;17050667;1717990;17550899;17597759;17720710;18245774;18339854;18363965;18385908;18497339;1883845;18854154;19123975;19410543;19466589;19548583;19549727;20061386;20064529;20080676;20378615;20675655;21041297;21113135;21139048;21422291;21443952;21549715;2158443;21816346;21858012;21884979;21963094;21965653;22069333;22083959;22547805;22705350;22939629;23079972;23378580;23525009;24681954;24958773;8575614 7320 D6RDW8;H0Y9V2;H0YA80;P63146 ABBA01068760;AC109454;AK312012;AMYH02012240;AMYH02012241;AMYH02012242;AMYH02012243;BC001694;BC005979;BC008404;BC008470;BT007071;BU954901;CH471062;CR407634;DA523817;DQ090910;M74525;NM_003337;T88933;X53251 AAA35982;AAH05979;AAH08404;AAH08470;AAP35734;AAY68224;ABM84039;ABM87386;BAG34950;CAA37339;CAG28562;EAW62257;EAW62258;NP_003328;P63146 Hs.612096;Hs.730071 1654670;1667113;1703238;1735476;2147459;2179737 D5S1596E;RH36042;SGC32120;WI-16140;WI-20661;WI-20684 E2-17kDa;HHR6B;HR6B;RAD6B;UBC2 E2 protein;OTTHUMP00000159383;OTTHUMP00000223112;OTTHUMP00000223113;RAD6 homolog B;ubiquitin carrier protein B;ubiquitin-conjugating enzyme E2 B;ubiquitin-conjugating enzyme E2-17 kDa;ubiquitin-conjugating enzyme E2B (RAD6 homolog);ubiquitin-protein ligase B APPROVED protein-coding ENSG00000119048 HGNC:12473 01533 179095 REVIEWED 1346006 UBE2A ubiquitin-conjugating enzyme E2A The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X q24 119163202 119173086 + 118708499 118718381 + 119574467 119584429 + 1580863;6480464;6907045;8699517;7240710;8554872 10884424;10908344;11714696;11885984;11929833;11953320;12477932;12525704;12640129;12776193;15359278;15489334;15509568;1559696;16344560;16909393;17108083;1717990;17597759;18926833;19410543;19549727;20061386;20412111;20967207;21108393;21139048;21443952;21816346;21858012;21884979;21900206;21906983;21963094;21967848;22053931;22083959;22427669;22456510;22592529;22939629;23471985;23525009;23685073;24036990;24506068;24654937;24672041;24837678;25023518;25287747;7821789;8125298 7319 P49459;Q8WXB3 ABBA01036658;ABBA01036659;AC004913;AF455746;AI784380;AK223045;AK223064;AK297696;AK301675;AK313092;AL701289;AMYH02040334;BC010175;BC042021;BI093289;CH471161;D28459;DA068506;DA599154;DQ068065;HI179118;HI179120;HI179122;M74524;NG_009267;NM_001282161;NM_003336;NM_181762 AAA35981;AAH10175;AAL58874;AAY46159;ABM84312;ABM87705;BAA05825;BAD96765;BAD96784;BAG35916;BAG60054;BAG63148;CBX53867;CBX53868;CBX53869;EAW89861;EAW89862;EAW89863;NP_001269090;NP_003327;NP_861427;P49459 Hs.379466 1695024;1795254;2167205;2173323;5093074 A009F17;G32504;G44726;STS-M74524;UBE2A_72 HHR6A;HR6A;MRXS30;MRXSN;RAD6A;UBC2 OTTHUMP00000023900;OTTHUMP00000023901;OTTHUMP00000023902;RAD6 homolog A;ubiquitin carrier protein A;ubiquitin-conjugating enzyme E2 A;ubiquitin-conjugating enzyme E2A (RAD6 homolog);ubiquitin-protein ligase A APPROVED protein-coding ENSG00000077721 HGNC:12472 02422 300860;312180 REVIEWED 1313378 UBE2C ubiquitin-conjugating enzyme E2C The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013] 20 20 20 q13.12 41151754 41156092 + 44441255 44445596 + 45812576 45816957 + 1580863;6480464;6907045 10548110;10793135;11285280;11340163;11535616;11549316;11739784;11742988;11780052;11927573;12070128;12477932;12874022;14593737;14671314;14690596;15029244;15107846;15208666;15342556;15489334;15504738;15749827;16106252;16169070;16196087;16341674;16455800;16472766;16712791;16772118;17217624;17227951;17339342;17354233;17360335;17443180;17443186;17588522;17597759;18264111;18331723;18485873;18559889;18662541;18666437;18722180;18753363;18854154;19038004;19302711;19322201;19438748;19475398;19638491;19657671;19690564;19779934;19820702;19822757;19826003;19913121;20007692;20061386;20065091;20080579;20360068;20530197;20628086;20639865;20733055;20739533;20864041;21139048;21354912;21454660;21556051;21651863;21874044;21890473;21906983;21937719;21963094;21965653;21988832;22053931;22056852;22193957;22415060;22505724;22529100;22580460;22694363;22760214;22939629;23000965;23078409;23102841;23201130;23355337;23357462;23670162;23707760;23708001;23708605;23791783;23824909;23826418;24072565;24114735;24512726;24654937;25015289;25043029;9122200 11065 K4DI81;O00762;Q5TZN3 ABBA01052667;AK311949;AL050348;AMYH02037154;BC007656;BC016292;BC028161;BC032677;BC050736;BF974975;BI858659;BM556795;BM747513;BP227692;BT007300;BT020165;BT020166;BU169315;BU171488;BU844974;CB143441;CH471077;CK904708;CN354813;CN354815;CR456988;DB062573;NM_001281741;NM_001281742;NM_007019;NM_181799;NM_181800;NM_181801;NR_104036;NR_104037;U73379 AAB53362;AAH07656;AAH16292;AAH50736;AAP35964;AAP36183;AAV38967;AAV38968;ABM83342;ABM86556;ACE86548;ACE87229;BAG34890;CAG33269;EAW75804;EAW75805;EAW75806;EAW75807;EAW75808;EAW75809;NP_001268670;NP_001268671;NP_008950;NP_861515;NP_861516;NP_861517;O00762 Hs.93002 2132826;2174643 D20S576E;STS-T86744 UBCH10;dJ447F3.2 OTTHUMP00000031653;OTTHUMP00000031654;OTTHUMP00000031655;OTTHUMP00000196690;OTTHUMP00000196691;cyclin-selective ubiquitin carrier protein;mitotic-specific ubiquitin-conjugating enzyme;ubiquitin carrier protein C;ubiquitin carrier protein E2-C;ubiquitin-conjugating enzyme E2 C;ubiquitin-protein ligase C APPROVED protein-coding ENSG00000175063 HGNC:15937 05717 605574 REVIEWED 5476950 UBAP1L ubiquitin associated protein 1-like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH melphalan; quercetin; 2,2',5,5'-tetrachlorobiphenyl (ortholog) 15 15 15 q22.31 42263505 42276862 - 65385108 65405985 - 65092770 65113647 - 6480464;8554872 12477932;14702039;20448139 390595 F5GYI3;H0YKG2 ABBA01038861;AC013553;AK023802;AL359606;AMYH02030619;BC127916;BQ183317;BQ677048;CR749500;NM_001163692;XM_005254370 F5GYI3;NP_001157164;XP_005254427 Hs.659256;Hs.737497 1697096;5022200 L18426;RH102030 UBAP-1L ubiquitin-associated protein 1-like protein-coding ENSG00000246922 HGNC:40028 VALIDATED 6481093 UBE2CP5 ubiquitin-conjugating enzyme E2C pseudogene 5 19 19 58379338 58379831 + 57867970 57868463 + 100874260 ABBA01020796;AC010326;AMYH02036522;NG_032555 pseudo HGNC:43554 INFERRED 5552975 UBE2CP4 ubiquitin-conjugating enzyme E2C pseudogene 4 15 15 15 q13.3 9437376 9438427 + 31712320 31713371 + 31420117 31421168 + 14702039 283711 ABBA01038333;AC104759;AC243688;NG_023395 pseudo HGNC:43553 INFERRED 5553008 UBE2CP3 ubiquitin-conjugating enzyme E2C pseudogene 3 4 4 4 q12 55443718 55444474 + 57938715 57939477 + 57072549 57073311 + 100129983 ABBA01003450;AC069307;AMYH02009272;NG_022057;NG_031877 pseudo HGNC:43552 INFERRED 1626139 UBE2D3P1 ubiquitin-conjugating enzyme E2D 3 pseudogene 1 INTERACTS WITH N-acetyl-beta-D-glucosamine; N-acetyl-D-glucosamine 20 20 20 p12.3 5342764 5343647 - 5272734 5273617 - 5292088 5292971 - 6480464 11780052 100037280 ABBA01053878;AL121755;AMYH02036640;NG_006450 1745989;1788742 RH125441;RH128490 RP4-680N4;UBE2D3L;UBE2D3P;UBE2D5P APPROVED pseudo HGNC:33349 INFERRED 5553010 UBE2CP2 ubiquitin-conjugating enzyme E2C pseudogene 2 18 18 18 q11.2 17294138 17294647 - 20480449 20480958 - 22900486 22900995 - 646595 ABBA01022654;AC091147;AMYH02034405;NG_022483 pseudo HGNC:43551 INFERRED 4144302 UBE2D3P2 ubiquitin-conjugating enzyme E2D 3 pseudogene 2 3 3 3 p22.2 37119224 37119671 + 37175842 37176655 + 37134351 37135164 + 100130139 ABBA01024855;AC126118;AMYH02006554;NG_028938 1745989 RH125441 APPROVED pseudo HGNC:39010 INFERRED 4889632 UBE2D3P4 ubiquitin-conjugating enzyme E2D 3 pseudogene 4 13 13 13 q31.1 65492126 65492453 + 84594549 84594877 + 84020414 84020742 + 100131800 ABBA01021744;AL590681;AMYH02028387;NG_011460 APPROVED pseudo HGNC:39391 INFERRED 6481092 UBE2D3P3 ubiquitin-conjugating enzyme E2D 3 pseudogene 3 1 1 150772949 150773501 + 150800473 150801025 + 100874262 ABBA01049354;AL356292;AMYH02001863;NG_032223 pseudo HGNC:39011 INFERRED 1347506 UBE2D4 ubiquitin-conjugating enzyme E2D 4 (putative) ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein K11-linked ubiquitination; protein K27-linked ubiquitination; protein K29-linked ubiquitination; PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; ubiquitin/proteasome degradation pathway; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; bucladesine 7 7 7 p13 43955900 43985602 + 43966035 43995735 + 43926134 43956136 + 6480464;6907045 12477932;12690205;14702039;15231748;15489334;16189514;17207965;19549727;19690564;20061386;21139048;21143188;21685362;21906983;21963094;21987572;21988832;22505724;23000965;23560854;24211586;24250222;24654937 51619 C9J9H9;F2Z3J6;F8WCA2;F8WE07;F8WEH7;H0YGA2;Q9UQL0;Q9Y2X8 ABBA01058198;AC004985;AF125044;AF125045;AK001446;AK056566;AMYH02015614;AMYH02015615;AW014299;BC004104;BG499454;CH236951;CH471073;NM_015983;XM_005249772;XM_006715734;XM_006715735;XM_006715736;XM_006715737 AAD31180;AAD31181;AAH04104;ADQ31771;BAA91697;EAL24010;EAW94178;EAW94179;EAW94180;EAW94181;EAW94182;EAW94183;EAW94184;NP_057067;Q9Y2X8;XP_005249829;XP_006715797;XP_006715798;XP_006715799;XP_006715800 Hs.19196 1647987;1689452;1696990;1849392;2132399;2158410;5022200;5037552 A006U11;D7S1963;D8S2279;L18426;RH101967;RH35997;RH80360;SHGC-56058 FLJ32004;HBUCE1 OTTHUMP00000159220;OTTHUMP00000207576;ubiquitin carrier protein D4;ubiquitin-conjugating enzyme E2 D4;ubiquitin-conjugating enzyme HBUCE1;ubiquitin-protein ligase D4 protein-coding ENSG00000078967 HGNC:21647 14242 VALIDATED 6481299 UBE2E1-AS1 UBE2E1 antisense RNA 1 p24.3 17607528 100874092 AC020626;ES608176;NR_046652 Hs.695913 APPROVED ncrna HGNC:40598 VALIDATED 1603496 UBE2DNL ubiquitin-conjugating enzyme E2D N-terminal like (pseudogene) ENCODES a protein that exhibits acid-amino acid ligase activity (inferred); INVOLVED IN metabolic process (inferred); INTERACTS WITH disodium selenite; (S)-nicotine (ortholog); 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (ortholog) X X X q21.1 84428607 84429346 + 84189157 84189896 + 84934151 84934890 + 6480464 12477932;15489334;19549727;21832049 100131816 Q8IWF7 ABBA01051628;AMYH02039887;BC040290;NR_024062;Z83820 Q8IWF7 Hs.460809 MGC42638 APPROVED pseudo ENSG00000229547 HGNC:28656 PROVISIONAL 1354241 UBE2E1 ubiquitin-conjugating enzyme E2E 1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 3 3 3 p24.2 23783561 23868992 + 23847384 23933131 + 23805893 23891640 + 1580863;6480464;6907045 10548110;10793135;10866800;10991948;11032817;11274149;11285280;11322894;11340163;11395416;11535616;11742988;11752173;11823428;12070128;12477932;12705856;14593737;14667819;14671314;14690596;15001359;15029244;15247280;15350225;15489334;15545318;15684077;16169070;16307923;16314844;16413270;16428300;16522193;16549277;16682404;16936636;17013377;17118964;17452440;17462600;17526739;17588522;17597759;17873885;18032921;18287095;18439907;18519031;18615712;18818210;18838541;18845142;18976975;19256485;19274063;19349376;19549727;19664638;19690564;19712108;19713937;19737936;20061386;20553626;20639865;20864041;21113135;21139048;21143188;21376232;21518764;21906983;21963094;21965653;22053931;22069333;22438555;22492721;22493164;22939629;23000965;23603909;24905733;8393731;8576257;9153201;9990509 7324 B7Z306;C9J2P0;H7C061;P51965 ABBA01025039;ABBA01025040;AC020626;AC124914;AK295354;AK314854;AMYH02006403;AMYH02006404;BC009139;BF698653;BI223271;CH471055;DB478686;DB499676;NM_001202476;NM_003341;NM_182666;X92963;XM_005265431 AAH09139;BAG37371;BAH12042;CAA63539;EAW64329;EAW64330;EAW64331;EAW64332;EAW64333;NP_001189405;NP_003332;NP_872607;P51965;XP_005265488 Hs.164853 1335465;1722771;1735076;1735110;1751255;1752017;1998508;2120201;2120203;2136515 A002D48;D3S2762E;D3S2786E;D3S3700;G19969;G60324;REN70166;RH12890;SHGC-105057;SHGC-105968 UBCH6 OTTHUMP00000161049;OTTHUMP00000161050;OTTHUMP00000208307;OTTHUMP00000208308;OTTHUMP00000208309;ubiquitin carrier protein E1;ubiquitin-conjugating enzyme E2 E1;ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast);ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5);ubiquitin-protein ligase E1 APPROVED protein-coding ENSG00000170142 HGNC:12477 04225 602916 REVIEWED 1317341 UBE2D1 ubiquitin-conjugating enzyme E2D 1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 10 10 10 q21.1 53359675 53395445 + 60094739 60130513 + 58334979 58370753 + 1580863;6480464;6484113;6907045;8554872 10066826;10072594;10548110;10562557;10793135;10973499;11274149;11278247;11278995;11285280;11322894;11340163;11389839;11513855;11526110;11535616;11557750;11742988;11752173;11912157;11927591;12070128;12393902;12477932;12480712;12485996;12504025;12524449;12525502;12538761;12574167;12646252;12670957;12692129;12705856;12732733;12883554;12887909;12890688;12925736;14517261;14562029;14593737;14636569;14638690;14661060;14671306;14671314;14690596;14722266;14741369;14960280;14980219;15001357;15013777;15029244;15103331;15107402;15139022;15198682;15215316;15236971;15247280;15280377;15300255;15331633;15466472;15489334;15494311;15611064;15621726;15684077;15749826;15989956;16189514;16269333;16275645;16314844;16344560;16385451;16395405;16403807;16413270;16522193;16549277;16569768;16601690;16682404;16740632;16809764;16831871;17069764;17081987;17132228;17170710;17183367;17203973;17218787;17229889;17301054;17318174;17337485;17341663;17373700;17392790;17543862;17544371;17579016;17588522;17597759;17719635;17848574;17873020;18042044;18070888;18077445;18077452;18298843;18359941;18408734;18485199;18485873;18508924;18627766;18632619;18644345;18794347;18838541;18845142;18851830;18988734;19028681;19032150;19037258;19053840;19056735;19064926;19103148;19164295;19247369;19264966;19300455;19345326;19346402;19412162;19475398;19549727;19578373;19581926;19597489;19648119;19690564;19710010;19712108;19741096;19818714;19818716;19826003;19854138;19854139;19965871;19995937;20051513;20061386;20080579;20081843;20124408;20146531;20160477;20173098;20181953;20181957;20302626;20347421;20378537;20388495;20530197;20553626;20577214;20639871;20675402;20694676;20729196;20852628;20858899;20864041;21045130;21048196;21070971;21102463;21113135;21139048;21143188;21157430;21209460;21220517;21242966;21296087;21396940;21454478;21518764;21571784;21577200;21597459;21625211;21670212;21685362;21734303;21807946;21822215;21857666;21887275;21898230;21900206;21906983;21911421;21931591;21936852;21952639;21953697;21963094;21987572;22016339;22017877;22069333;22117219;22124327;22266820;22306998;22323446;22331460;22334663;22350887;22438555;22493164;22505724;22529100;22596162;22711876;22745133;22825849;22842904;22890573;22916255;22939629;23000965;23084835;23085759;23106098;23115235;23150668;23297342;23322298;23344957;23370391;23408431;23462994;23478441;23479728;23504328;23560854;23612611;23663701;23671280;23838290;23962426;23972993;23990779;24044920;24071738;24145166;24211586;24337577;24403071;24507701;24586788;24633224;24656128;24709419;24714598;24810856;24882209;24905733;24969970;24975362;25015289;25043012;25117710;25128498;8090726;8524278;8530467;8576257;8889548;9153201;9182527;9362451;9362508;9409737;9450543;9497385;9575161;9918797 7321 P51668 ABBA01019436;AC016396;AC023170;AF020761;AF257220;AI566662;AJ272367;AJ293565;AK291901;AMYH02023156;BC005980;BC015997;BI598342;BM468116;BM970335;BT007041;CH471083;DA618122;DA677507;NM_001204880;NM_003338;X78140 AAH05980;AAH15997;AAM81086;AAP35690;ABM84037;ABM87384;BAF84590;CAA55019;CAC82097;CAC82177;EAW54167;EAW54168;EAW54169;EAW54170;NP_001191809;NP_003329;P51668 Hs.129683 1644902;5109661 D7S2050E;SHGC-14566 E2(17)KB1;SFT;UBC4/5;UBCH5;UBCH5A OTTHUMP00000019631;UBC4/5 homolog;stimulator of Fe transport;ubiquitin carrier protein D1;ubiquitin-conjugating enzyme E2 D1;ubiquitin-conjugating enzyme E2(17)KB 1;ubiquitin-conjugating enzyme E2-17 kDa 1;ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast);ubiquitin-protein ligase D1 APPROVED protein-coding ENSG00000072401 HGNC:12474 04267 602961 REVIEWED 7175009 UBE2E2-AS1 UBE2E2 antisense RNA 1 (head to head) 3 3 3 23172606 23180114 - 23236561 23246268 - 23195070 23204777 - 100505877 ABBA01025047;ABBA01025048;AC135966;AMYH02006398;XM_005265643;XM_005275946;XM_005276231 XP_005265700;XP_005276003;XP_005276288 protein-coding HGNC:44512 MODEL 1346022 UBE2E2 ubiquitin-conjugating enzyme E2E 2 ENCODES a protein that exhibits ISG15 ligase activity; ubiquitin-protein transferase activity; INVOLVED IN ISG15-protein conjugation; protein K11-linked ubiquitination; protein K48-linked ubiquitination; PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; ubiquitin/proteasome degradation pathway; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; arsane; arsenic atom 3 3 3 p24.2 23181176 23568475 + 23244498 23632296 + 23203007 23590805 + 737633;1580863;6480464;6907045;8554872 12477932 10521492;10888878;11237715;11274149;11322894;11786535;15485925;15545318;15963787;16428300;16583136;17597759;17873885;18029348;18065497;18073335;18356159;18485199;18615712;18649358;19256485;19322201;19549727;19690564;19712108;20023648;20061386;20089136;20379614;20484052;20639865;20818381;20864041;20975683;21139048;21143188;21518764;21832049;21906983;21911360;21963094;21965653;22053931;22069333;22939629;23000965;23602568;23862583;23945395;24132900;24654937;7757816;8889548;9371400 7325 C9J180;F8W8F0;F8WF15;Q96LR5 ABBA01025042;ABBA01025043;ABBA01025044;ABBA01025045;ABBA01025046;ABBA01025047;AC092038;AC104741;AC116992;AC121251;AC135966;AK057886;AK307075;AMYH02006398;AMYH02006399;BC022332;CB851345;CH471055;NM_152653;XM_005265432;XM_005265433;XM_005265434 AAH22332;BAB71605;EAW64321;EAW64322;EAW64323;EAW64324;EAW64325;NP_689866;Q96LR5;XP_005265489;XP_005265490;XP_005265491 Hs.475688;Hs.595802 1667440;1691276;1698050;1735154;1735206;1756109;1777730;2107741;2118488;2142013;2156575 D3S2810E;D3S2864E;D3S3993;G16575;RH102556;RH80940;SHGC-142898;SHGC-37093;SHGC-63667;SHGC-76771;UBE2E2_7896 FLJ25157;UBCH8 OTTHUMP00000161048;OTTHUMP00000208342;OTTHUMP00000208352;ubiquitin carrier protein E2;ubiquitin-conjugating enzyme E2 E2;ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast);ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5);ubiquitin-protein ligase E2 APPROVED protein-coding HGNC:12478 06779 602163 VALIDATED 1344235 UBE2D3 ubiquitin-conjugating enzyme E2D 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. Multiple spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 4 4 4 q24 101016390 101089649 - 103715540 103790050 - 102794383 102868893 - 6480464;6484113;6907045 10329681;10835356;11027288;11245432;11485561;11486026;11714696;11743028;11927591;12215439;12230472;12438698;12477932;12525502;12629548;12646171;12670957;12732733;12867425;14562029;14661060;14667819;14676825;14690596;14702039;14765125;15200957;15247280;15280377;15367667;15448697;15466860;15489334;15546622;15601779;15611659;15621726;15684077;15852347;15886201;15905410;15960978;16169070;16189514;16196087;16341674;16344560;16413270;16522193;16549277;16628214;16682404;16714087;16714294;16818604;16861890;17203973;17205132;17283126;17349954;17420285;17420721;17452440;17462600;17544371;17588522;17597759;17682061;17709375;17719635;17965458;18093972;18485873;18498243;18515077;18541373;18838541;18851830;18948756;19088202;19240029;19250734;19322201;19393081;19500350;19549727;19656744;19675569;19683495;19690564;19712108;19713937;19741096;19782033;19913553;20017557;20051513;20061386;20170641;20237263;20332099;20347421;20351172;20453884;20484041;20484049;20553626;20596027;20618441;20621832;20624960;20631078;20638939;20655225;20675402;20696396;20704274;20858899;20860768;20864041;20943656;21035370;21060154;21068390;21113135;21139048;21143188;21226485;21228219;21292167;21331077;21376232;21399620;21402695;21518764;21531767;21532592;21572037;21572392;21597459;21625540;21676867;21685362;21726812;21726816;21756275;21772249;21813641;21825151;21890473;21900206;21906983;21963094;21964591;21965653;21987572;22032989;22053931;22069333;22113614;22185822;22223637;22334663;22350887;22373579;22483617;22505724;22551455;22570418;22613722;22626734;22745133;22863316;22904187;22989887;23000965;23277564;23357576;23408431;23509263;23530056;23550736;23555887;23560854;23604317;23625928;23644597;23695782;23741361;23799367;23818254;23865999;23891150;23940030;23955342;23959799;23974797;24034696;24043303;24089522;24141722;24155239;24157836;24167073;24211586;24239288;24250222;24296361;24403071;24446487;24550499;24614341;24654937;24816145;24821572;24828823;24837678;24842904;24905733;24912152;24980959;25015289;8051045;8090726;8530467;9488723;9990509 7323 D6R933;D6R980;D6R9F6;D6RA11;D6RAH7;D6RAW0;D6RGD0;D6RIZ3;D6RJB3;H9KV45;P61077 ABBA01063702;ABBA01063703;AC018797;AF116686;AF213884;AI651378;AK095822;AK127304;AK315775;AL050186;AL833414;AMYH02009820;AU131013;AW675390;BC003395;BC037894;BC066917;BG613555;BM541512;BM750658;BM788287;BM967209;BQ428985;BQ719030;BU567649;BU570661;BU677139;CD242548;CH471057;CR456916;DA335600;DA494746;DA550074;DA557036;DA588940;DA808523;DA965437;DB234695;DB501483;HY035067;HY109217;NM_001300795;NM_003340;NM_181886;NM_181887;NM_181888;NM_181889;NM_181890;NM_181891;NM_181892;NM_181893;U39318;XM_005263200;XM_005263205;XM_006714297;XM_006714298;XM_006714299;XM_006714300;XM_006714301 AAA91461;AAF35234;AAF71106;AAH03395;AAH37894;AAH66917;BAC04632;CAG33197;EAX06138;EAX06139;EAX06140;EAX06141;EAX06142;EAX06143;EAX06144;EAX06145;EAX06146;EAX06147;NP_001287724;NP_003331;NP_871615;NP_871616;NP_871617;NP_871618;NP_871619;NP_871620;NP_871621;NP_871622;P61077;XP_005263257;XP_005263262;XP_006714360;XP_006714361;XP_006714362;XP_006714363;XP_006714364 Hs.518773;Hs.595430;Hs.621366 1299893;1654217;1676015;1676130;1676364;1745989;1767327;1848831;2133258;2173847;2180993;2184852 AFM265va9;D4S1572;G19979;RH125441;RH16693;SHGC-14304;SHGC-25108;SHGC-37168;SHGC-67354;SHGC-67367;SHGC-67632;STS-H95079 E2(17)KB3;MGC43926;MGC5416;UBC4/5;UBCH5C E2(17)KB 3;OTTHUMP00000161755;OTTHUMP00000161756;OTTHUMP00000161757;OTTHUMP00000161759;OTTHUMP00000161760;OTTHUMP00000216434;OTTHUMP00000219556;OTTHUMP00000219558;OTTHUMP00000219559;OTTHUMP00000219560;OTTHUMP00000219561;OTTHUMP00000219562;OTTHUMP00000219563;OTTHUMP00000219564;OTTHUMP00000219566;PRO2116;ubiquitin carrier protein D3;ubiquitin-conjugating enzyme E2 D3;ubiquitin-conjugating enzyme E2(17)KB 3;ubiquitin-conjugating enzyme E2-17 kDa 3;ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast);ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5);ubiquitin-protein ligase D3 APPROVED protein-coding ENSG00000109332 HGNC:12476 04269 602963 REVIEWED 1605819 UBE2E4P ubiquitin-conjugating enzyme E2E 4 pseudogene X X X p22.2 18377517 18378878 + 14262003 14263552 + 14243881 14245430 + 10343118;15302935;15489334;15545318;15815621 286480 ABBA01071181;AC002524;AF136176;AMYH02038904;NR_110506 AAP97266 Hs.567831 1657797 T03564 UbcM2 pseudo HGNC:32199 VALIDATED 1318925 UBE2E3 ubiquitin-conjugating enzyme E2E 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2013] 2 2 2 q32.1 175442077 175524385 + 181845112 181928154 + 180980385 181063427 + 1580863;6480464;6907045 10187858;10343118;10582246;11042152;11274149;11322894;11389839;11809816;11823428;12477932;14667819;15001359;15017387;15146197;15302935;15489334;15545318;15761153;15815621;16341674;16344560;16713569;16936636;17452440;17597759;17873885;18029348;18202150;18614808;19256485;19549727;19690564;19712108;20061386;20190752;20379614;20484052;20639865;21139048;21143188;21518764;21552555;21906983;21963094;21965653;22053931;22069333;22404213;22496338;23000965;23275563;24825905;24901938;8889548;9409737;9734360 10477 Q969T4;R4GMM6;R4GN77;R4GN80;R4GND1;R4GNG6 AB017644;ABBA01062282;ABBA01062283;ABBA01062284;AC104076;AF085362;AK314145;AMYH02005354;AMYH02005355;BC003554;BC003687;BC092407;BI257596;BM762761;BQ932163;BT019345;BU608985;CH471058;CN369618;DA568152;DB458228;NM_001278554;NM_001278555;NM_006357;NM_182678;XM_005246244 AAD40197;AAH03554;AAH92407;AAV38152;AAY14882;BAA76544;BAG36833;EAX10989;EAX10990;NP_001265483;NP_001265484;NP_006348;NP_872619;Q969T4;XP_005246301 Hs.470804 1657797;2186697 SHGC-31338;T03564 UBCH9;UbcM2 OTTHUMP00000163407;OTTHUMP00000205276;OTTHUMP00000205277;OTTHUMP00000205278;OTTHUMP00000205280;OTTHUMP00000206310;ubiquitin carrier protein E3;ubiquitin-conjugating enzyme E2 E3;ubiquitin-conjugating enzyme E2-23 kDa;ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast);ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5);ubiquitin-protein ligase E3 APPROVED protein-coding ENSG00000170035 HGNC:12479 05000 604151 REVIEWED 7243433 UBE2F-SCLY UBE2F-SCLY readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring UBE2F (ubiquitin-conjugating enzyme E2F) and SCLY (selenocysteine lyase) genes on chromosome 2. The read-through transcript is a candidate for non-sense mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 2 2 238875587 239008054 + 237966945 238099413 + 6480464 14702039;20967262 100533179 H3BSR4;H3BUI7 ABBA01042599;ABBA01042600;ABBA01042601;AC016757;AC016776;AMYH02006070;AMYH02006071;KF510802;NR_037904 Hs.471785 ncrna HGNC:48339 VALIDATED 7174891 UBE2FP1 ubiquitin-conjugating enzyme E2F (putative) pseudogene 1 3 3 3 75602279 75602811 - 37183036 37185673 - 37141545 37144182 - 100421436 ABBA01024855;AC126118;AMYH02006554;NG_025564 pseudo HGNC:44535 INFERRED 69475 UBE2D2 ubiquitin-conjugating enzyme E2D 2 Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of target proteins and covalent linkage of Ub-containing proteins to form polymeric chains, marking them as targets for 26S proteasome-mediated degradation. Ubiquitination of proteins is mediated by a cascade of enzymes which includes E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligases) enzymes. This gene encodes a member of the E2 enzyme family. Substrates of this enzyme include the tumor suppressor protein p53 and peroxisomal biogenesis factor 5 (PEX5). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 5 5 5 q31.2 135015760 135083018 + 138940751 139008019 + 139561166 139628434 + 1302873;69394;6480464;6907045 11020223;8754804 10329681;10514377;10531035;10722742;10848595;10888670;10918611;11513855;11574546;11641273;11676916;11714696;11724934;11782429;11807090;11823428;11907583;11912157;12036302;12140560;12150907;12431996;12477932;12524449;12670957;12878161;14517261;14562029;14612456;14661060;14667819;14671314;14690596;14702039;14769800;14990566;15001359;15062086;15069192;15103385;15117950;15123669;15231748;15247280;15256223;15280377;15447663;15489334;15522302;15581609;15684077;15911628;15930137;15936278;15950904;16112646;16174773;16213503;16275660;16297862;16403452;16413270;16472766;16549277;16675952;16682404;16701206;16931761;16996030;17013377;17116465;17159902;17203973;17206147;17314412;17349959;17363573;17418098;17452440;17462600;17544371;17553932;17568776;17576800;17580310;17588522;17597759;17609381;17719635;17848550;17893151;18006823;18206970;18213395;18264111;18312418;18344599;18359941;18451149;18508924;18519589;18536714;18632619;18665269;18703417;18784070;18819927;18838541;18996392;19043414;19123975;19193720;19196968;19219073;19224863;19232519;19237536;19240791;19256485;19258326;19264966;19287380;19325566;19372219;19407830;19483087;19484123;19549727;19615732;19619542;19675099;19690564;19712108;19741096;19816404;19818714;19826003;19913121;19953087;20051513;20059950;20061386;20064473;20122409;20152160;20347421;20383333;20452352;20466727;20484052;20525694;20542005;20553626;20625400;20628086;20675402;20696396;20705607;20725033;20854419;20864041;20870715;20874444;20940148;21030588;21068390;21084285;21113135;21127351;21139048;21143188;21226479;21317885;21358815;21393245;21518764;21625211;21685362;21694720;21764995;21828050;21860411;21890473;21906983;21963094;21965653;21987572;22065755;22069333;22084099;22157679;22158902;22190037;22215675;22266821;22301280;22308378;22325355;22334663;22350887;22350907;22493164;22496338;22505724;22582951;22610502;22613722;22889411;22902369;22939629;22989009;22992278;23000965;23086937;23101881;23259674;23277564;23287719;23387299;23408431;23418353;23449389;23530056;23560854;23603909;23607312;23612978;23677995;23851457;23871895;23936628;23973223;23973461;24113870;24127580;24211586;24240685;24567357;24816145;24901938;24905733;24930963;24949976;7724550;8090726;8530467;8889548;9182527;9990509 7322 D6RFM0;P62837 ABBA01026449;ABBA01026450;ABBA01026451;ABBA01026452;ABBA01026453;ABBA01026454;ABBA01026455;ABBA01026456;ABBA01026457;ABBA01026458;AC010378;AF317220;AK001311;AK001428;AK310273;AMYH02012323;AMYH02012324;AY651263;BC019052;BC033349;BC048426;BQ186099;CH471062;L40146;NM_003339;NM_181838;U39317 AAA91460;AAC41750;AAH33349;AAK93958;AAX35690;BAG50891;BAG50911;EAW62095;EAW62096;EAW62097;NP_003330;NP_862821;P62837 Hs.108332 1650363;1780846;1788794;1797018;2127878;2184707 D5S1633E;D5S1932;RH137016;UBE2D2_1119;WI-13988;bac5252T E2(17)KB2;PUBC1;UBC4;UBC4/5;UBCH4;UBCH5B OTTHUMP00000223475;OTTHUMP00000223476;OTTHUMP00000223477;OTTHUMP00000223478;OTTHUMP00000224375;p53-regulated ubiquitin-conjugating enzyme 1;ubiquitin carrier protein D2;ubiquitin-conjugating enzyme E2 D2;ubiquitin-conjugating enzyme E2(17)KB 2;ubiquitin-conjugating enzyme E2-17 kDa 2;ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast);ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5);ubiquitin-protein ligase D2 APPROVED protein-coding ENSG00000131508 HGNC:12475 04268 602962 REVIEWED 1350782 UBE2F ubiquitin-conjugating enzyme E2F (putative) ENCODES a protein that exhibits NEDD8 ligase activity; INVOLVED IN protein neddylation; PARTICIPATES IN ubiquitin/proteasome degradation pathway; INTERACTS WITH all-trans-retinoic acid; arsenite(3-); atrazine 2 2 2 q37.3 232588691 232663675 + 238875587 238951423 + 237966945 238042782 + 6480464;6907045 12477932;15146197;15489334;15815621;16344560;19250909;19322201;19549727;22190037;22939629;23000965;23201271;23300442;24654937 140739 C9IZ93;C9J9P8;C9JF62;C9JFD2;C9JSK8;F2Z363;F8WB39;F8WCT3;F8WD80;F8WDQ9;F8WFB7;G5E9R6;Q969M7 ABBA01042599;AC016776;AF310723;AK290063;AK293334;AK294107;AK297502;AK303094;AMYH02006070;AMYH02006071;BC010549;BC039435;BM470609;BM920749;BQ959565;BX421077;CH471063;CN370973;CN370974;DA140546;DB118122;JC212078;KF510802;NM_001278305;NM_001278306;NM_001278307;NM_001278308;NM_080678;NR_103498;NR_103499;NR_103500 AAH10549;AAL26792;AAY24220;ADZ15835;BAF82752;BAG56850;BAG57442;BAG59915;BAG64204;CDM22106;EAW71128;EAW71129;EAW71130;EAW71131;EAW71132;EAW71133;EAW71134;NP_001265234;NP_001265235;NP_001265236;NP_001265237;NP_542409;Q969M7 Hs.471785 2163335;2186713 G35018;RH68499 MGC18120;NCE2 NEDD8 carrier protein UBE2F;NEDD8 conjugating enzyme;NEDD8 protein ligase UBE2F;NEDD8-conjugating enzyme 2;NEDD8-conjugating enzyme UBE2F;OTTHUMP00000164480;OTTHUMP00000202749;OTTHUMP00000202755;OTTHUMP00000202756;OTTHUMP00000202760;OTTHUMP00000202761;OTTHUMP00000202762;OTTHUMP00000202763;OTTHUMP00000202765;OTTHUMP00000202766;ubiquitin-conjugating enzyme E2 F;ubiquitin-conjugating enzyme e2f (ubc6 homolog, c. elegans) protein-coding ENSG00000184182 HGNC:12480 14812 VALIDATED 1353011 UBE2G1 ubiquitin-conjugating enzyme E2G 1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins. [provided by RefSeq, Jul 2008] 17 17 17 p13.2 4183990 4282343 - 4172512 4269969 - 4269217 4366674 - 6480464;6907045 10521492;10558980;11032556;11278356;11439185;12477932;12665801;12847084;12933904;15489334;15603737;15673284;16446428;16862145;17131388;17452445;17597759;19056867;19322201;19549727;19560420;19661182;20061386;21139048;21209460;21628527;21832049;21890473;21963094;22016339;22323446;22505724;22826439;22939629;23000965;24816145;8393731;8893823;9693041 7326 I3L0Q0;I3L2H7;I3L2Q4;K7EPR7;P62253 ABBA01054759;ABBA01054760;ABBA01054761;ABBA01054762;AC087742;AC116910;AI493944;AK313059;AMYH02032819;AMYH02032820;AMYH02032821;BC002775;BC017006;BC026288;BG703127;BI601205;BT007416;BU161770;CD250951;CH471108;CQ840929;D78514;FB353539;NM_003342 AAH02775;AAH26288;AAP36084;AAP36947;BAA11410;BAG35889;CAH05704;CAR82353;EAW90441;EAW90442;EAW90443;EAW90444;EAW90445;EAW90446;NP_003333;P62253 Hs.741319 1734392;1735814;1736642;1736654;1736929;1767171;2110785;2121276;2159939;2161921;5019593;5092422;5092424;5092452;5092464;5092470;5092928;5109789;5122061 A009C27;D17S1364E;D17S1480E;D17S1488E;D17S1490E;D17S1572;D17S2042;D8S1423E;G32418;G54291;G54298;G54301;G54302;G54307;G54308;RH47218;RH71332;STS-AA011217;UBE2G1_7897 E217K;UBC7;UBE2G ubiquitin carrier protein G1;ubiquitin-conjugating enzyme E2 G1;ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans);ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast);ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7);ubiquitin-protein ligase G1 APPROVED protein-coding ENSG00000132388 HGNC:12482 03340 601569 REVIEWED 2301590 UBE2HP1 ubiquitin-conjugating enzyme E2H pseudogene 1 8 8 8 q21.13 78172072 78172957 + 82167120 82168005 + 81254885 81255770 + 646463 ABBA01004054;AC009902;AMYH02018312;NG_008822 2144481;5107213 G15859;G66159 UBE2HP APPROVED pseudo HGNC:31079 INFERRED 1312541 UBE2G2 ubiquitin-conjugating enzyme E2G 2 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 21 21 21 q22.3 31296281 31329066 - 46188495 46221751 - 44768580 44801836 - 6480464;6907045 10521492;10558980;10830953;10991948;11032556;11278356;11724934;12150907;12477932;12869571;14702039;15489334;16214370;16344560;16407162;16582478;16780588;17310145;17353931;17553932;17597759;17681147;18216283;19223579;19269966;19690564;20014027;20061386;20682791;20940148;21098018;21127063;21139048;21143188;21636303;21694720;21857022;21890473;21906983;21963094;21988832;22505724;23000965;23223569;23246001;23370391;23824909;23942235;24366945;24496447;24797263;24811749;24816145;8393731;8889548;9693041;9925943 7327 F8WCB9;F8WDB1;P60604 ABBA01074172;ABBA01074173;AF032456;AK075143;AK122700;AK290629;AL163300;AL773604;AL834129;AMYH02037918;BC001738;BC008351;BC011569;BC017241;BC054341;BE292782;BG702453;BT006914;BU741369;CH471079;DA710059;NM_001202489;NM_003343;NM_182688 AAC32312;AAH01738;AAH08351;AAH11569;AAP35560;ADZ16054;BAF83318;BAG53675;CAB90551;CAD38846;EAX09395;EAX09396;EAX09397;EAX09398;EAX09399;EAX09400;NP_001189418;NP_003334;NP_872630;P60604 Hs.529420;Hs.701398 1666053;1735028;1752657;1768201;2141654;5022578;5022651 D11S2921;D1S1423;D21S1723E;SHGC-106500;SHGC-87696;SHGC-87700;SHGC-87701 UBC7 OTTHUMP00000113174;OTTHUMP00000214679;ubiquitin carrier protein G2;ubiquitin conjugating enzyme 7;ubiquitin conjugating enzyme G2;ubiquitin-conjugating enzyme E2 G2;ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast);ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7);ubiquitin-protein ligase G2 APPROVED protein-coding ENSG00000184787 HGNC:12483 04387 603124 REVIEWED 1343973 UBE2J2 ubiquitin-conjugating enzyme E2, J2 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] 1 1 1 p36.33 1373022 1393007 + 1189292 1209234 - 1253912 1273854 - 1580863;6480464;6907045;8554872 11278356;12477932;14702039;16303743;16341674;16720581;19549727;20061386;21139048;21890473;21906983;21963094;22496338;22645275;8393731 118424 A6NGS0;B1AMF0;B1AMF1;D6R9H0;D6RA15;D6RB84;D6RC43;D6RD90;D6REN4;Q8N2K1 ABBA01016025;ABBA01016026;ABBA01016027;AF116687;AF296658;AK056065;AK075017;AK098803;AK291935;AL162741;AL555293;AMYH02000086;AMYH02000087;AMYH02000088;AMYH02000089;AW411508;BC027728;BC052579;BC094777;BC104890;BC113430;BC143657;BE382927;BE515187;BG112933;BG499172;BG717336;BM544827;BM765278;BM794599;BM926567;BQ881730;CH471183;KF495840;NM_058167;NM_194315;NM_194457;NM_194458;XM_005244718;XM_005244719;XM_006710333;XM_006710334 AAF71107;AAH94777;AAI04891;AAI13431;AAI43658;AAK52609;ADR83504;BAB71086;BAC11355;BAF84624;EAW56255;EAW56256;EAW56257;EAW56258;EAW56259;EAW56260;EAW56261;EAW56262;EAW56263;EAW56264;EAW56265;EAW56266;EAW56267;NP_477515;NP_919296;NP_919439;NP_919440;Q8N2K1;XP_005244775;XP_005244776;XP_006710396;XP_006710397 Hs.191987 1648017;1650873;1675895 RH76780;SHGC-74096;WI-14412 NCUBE-2;NCUBE2;PRO2121 OTTHUMP00000001907;OTTHUMP00000001908;OTTHUMP00000002077;OTTHUMP00000002078;OTTHUMP00000220526;OTTHUMP00000220527;non-canonical ubiquitin-conjugating enzyme 2;ubiquitin conjugating enzyme 6;ubiquitin conjugating enzyme E2, J2;ubiquitin-conjugating enzyme E2 J2;ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast);yeast UBC6 homolog APPROVED protein-coding ENSG00000160087 HGNC:19268 15600 REVIEWED 1320678 UBE2H ubiquitin-conjugating enzyme E2H The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011] 7 7 7 q32 124268754 124388521 - 129470572 129592800 - 129830732 129952960 - 6480464;6907045 10860668;12477932;12690205;12705856;12853948;14639049;14671314;14690596;14702039;14722266;15107846;15388255;15489334;16472766;17462600;17588522;17597759;18029348;18854154;19058789;19322201;19549727;19690564;19922136;20028976;20061386;20864041;21070970;21139048;21256161;21890473;22493095;22616001;22863883;22939629;23000965;23965929;24344130;24722188;7761435;8132613;8543049 7328 A4D1L5;C9J8Q9;C9JZG9;C9JZY6;H7C4M9;P62256 AB451490;ABBA01057614;ABBA01057615;ABBA01057616;ABBA01057617;ABBA01057618;ABBA01057619;ABBA01057620;AC073320;AC084865;AK024519;AK026094;AK091088;AK316590;AL832212;AMYH02016743;AY302138;BC006277;BI088146;BT006756;CB995681;CH236950;CH471070;KJ534959;NM_001202498;NM_003344;NM_182697;Z29328;Z29330;Z29331 AAH06277;AAP35402;AAP57630;AAS07548;ADZ15826;AHW56599;BAG70304;CAA82525;CAA82527;CAA82528;EAL24098;EAL24099;EAW83733;EAW83734;EAW83735;EAW83736;EAW83737;NP_001189427;NP_003335;NP_874356;P62256 Hs.643548 1648704;1650908;1652272;1657246;1670361;1674280;1689292;1701010;1846610;1846637;1848430;2114498;2118699;2128669;2132643;2138763;2144481;2145045;2165947;2177552;7187029 A008X46;D7S1462;D7S2052E;D7S2072E;D7S2638;G15859;HSC01F092;RH104132;RH12795;RH16438;RH36422;RH45635;RH69712;RH70187;SHGC-35496;STS-H93071;STS-Z29330;WI-11310;WI-12125;WI-14752 E2-20K;GID3;UBC8;UBCH;UBCH2 GID complex subunit 3, UBC8 homolog;OTTHUMP00000212335;OTTHUMP00000212336;OTTHUMP00000212338;OTTHUMP00000212339;OTTHUMP00000212355;ubiquitin carrier protein H;ubiquitin-conjugating enzyme E2 H;ubiquitin-conjugating enzyme E2-20K;ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast);ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8);ubiquitin-protein ligase H APPROVED protein-coding ENSG00000186591 HGNC:12484 03052 601082 REVIEWED 1345214 UBE2L1 ubiquitin-conjugating enzyme E2L 1 (pseudogene) 14 14 14 q22.3 35745398 35746141 + 55695911 55696654 + 55229193 55229936 + 10760570;8563171 283556 ABBA01018204;AF300336;AF352694;AJ007635;AL158801;AMYH02029233;NG_002490;S81005 L-UBC;UBC4;UBCH7N3;UBCL;UBE2L7;UBEL1 APPROVED pseudo HGNC:12486 600012 INFERRED 1350715 UBE2L2 ubiquitin-conjugating enzyme E2L 2 (pseudogene) 12 12 q12 20602372 20603067 - 20449438 20450133 - 10760570;8672131 100506424;7331 ABBA01067955;AC129029;AMYH02026160;NG_029060;NG_030033 APPROVED pseudo HGNC:12487 INFERRED 1346213 UBE2L1 ubiquitin-conjugating enzyme E2L 1 q24.3 10760570;15256223;8563171 7330 AJ007635;AL158801;NG_003101;S81005 1862752 REN2036 L-UBC;UBC4;UBCL;UBEL1 pseudo HGNC:12486 600012 1345330 UBE2L4 ubiquitin-conjugating enzyme E2L 4 19 19 19 q13.2 9780579 9781042 + 9885173 9885636 + 9774497 9774960 + 10760570;9605847 7333 ABBA01029963;AC008752;AMYH02035475;NG_001209;Y09515 pseudo HGNC:12489 INFERRED 1312877 UBE2J1 ubiquitin-conjugating enzyme E2, J1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. [provided by RefSeq, Jul 2008] 6 6 6 q15 90454855 90481153 - 90036344 90062619 - 89326625 89352900 - 1580863;6480464;6907045 10708578;10810093;11042152;11439185;12082160;12150907;12477932;12933904;14574404;15489334;15603737;15861135;16442531;16720581;16862145;16901789;17597759;18711132;19322201;19549727;19690564;20222955;20435896;21139048;21245296;21594788;21857022;21890473;21906983;23097496;24020373;8125298 51465 Q9Y385 AB075487;ABBA01040529;ABBA01040530;AF151039;AF151834;AF161502;AJ245898;AJ420479;AJ420522;AJ420578;AJ420600;AK223464;AK290574;AK300629;AL121833;AL138717;AL139804;AMYH02014079;AMYH02014080;AMYH02014081;AMYH02014082;BC013973;BF058850;CH471051;NM_016021;U93243 AAD34071;AAF21505;AAF29117;AAF36125;AAH13973;ABM86070;ABW03768;BAD97184;BAF83263;BAG62320;CAB83212;EAW48555;EAW48556;NP_057105;Q9Y385 Hs.163776 1656441;1665751;1701370;1852412;2179474 D6S1202E;RH104315;RH47544;SHGC-56767;WI-11949 CGI-76;HSPC153;HSPC205;HSU93243;MGC12555;NCUBE-1;NCUBE1;UBC6;Ubc6p HSUBC6e;OTTHUMP00000016852;OTTHUMP00000245850;non-canonical ubiquitin-conjugating enzyme 1;non-canonical ubquitin conjugating enzyme 1;ubiquitin-conjugating enzyme E2 J1;ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast);ubiquitin-conjugating enzyme E2, J1, U;yeast ubiquitin-conjugating enzyme UBC6 homolog E APPROVED protein-coding ENSG00000198833 HGNC:17598 15599 REVIEWED 2303330 UBE2L5P ubiquitin-conjugating enzyme E2L 5 (pseudogene) 13 13 13 q12.3 12071675 12072031 + 31002122 31002478 + 30427985 30428341 + 171222 ABBA01035699;AF352693;AL161893;AMYH02027795;NG_001319 1822916;1829386;1833528;1862732;1862734;1862736;1862738;1862740;1862742;1862744;1862746;1862748;1862750;1862752;1862754;1862756;2197592;2197594 ECD12546;ECD15824;ECD17907;REN2026;REN2027;REN2028;REN2029;REN2030;REN2031;REN2032;REN2033;REN2034;REN2035;REN2036;REN2037;REN2038;stSG616857;stSG616858 UBCH7N2;UBE2L5 APPROVED pseudo HGNC:13477 INFERRED 1318085 UBE2L3 ubiquitin-conjugating enzyme E2L 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] 22 22 22 q11.21 5739499 5795863 + 21903736 21978323 + 21549447 21624034 + 6480464;6907045 10329681;10373495;10431818;10521492;10531381;10558980;10760570;10888878;10966114;10973942;11027293;11078524;11237715;11274149;11278816;11431533;11590439;11714696;12145308;12215439;12234920;12477932;12525502;12526791;12612082;12620973;12628165;12732733;12794086;12938929;14559152;14623119;14690596;14702039;14702098;14765125;15062086;15107846;15350225;15367689;15461802;15489334;15545318;15678106;15852347;15933713;16061177;16096643;16118314;16169070;16246731;16332688;16344560;16356860;16427630;16472766;16682404;16703398;16709802;16714300;16735510;17003263;17038327;17353931;17433363;17550899;17553932;17588522;17592138;17597759;17603074;17719543;17996703;18303026;18498246;18615712;18718449;18805400;18854154;18946090;18996392;19204938;19240029;19274063;19322201;19340006;19364824;19549727;19591933;19712108;19713937;19738201;19838193;19850743;19880420;19899154;20007713;20039703;20051513;20061386;20068034;20086093;20089136;20139978;20190752;20351251;20589759;20601676;20639865;20686565;20858899;20864041;20940148;20951678;20962850;21068098;21102463;21139048;21209200;21292769;21376232;21383967;21408207;21513699;21532592;21572392;21694720;21890473;21900206;21906983;21953697;21963094;21986318;22008525;22009753;22037423;22045845;22053931;22069333;22081612;22271254;22294623;22308380;22350887;22476155;22505724;22614015;22939629;22990118;23000965;23128233;23222517;23273568;23277564;23549616;23661642;23707686;23727886;23824909;24076655;24097068;24162738;24328108;24390342;24566975;24654937;24784582;24816145;24821572;24828823;24979766;25015289;25026213;25101677;8144544;8144545;8524278;8563171;8576257;8672131;9153201;9575161;9628897;9688277;9693040;9990509 7332 P68036 ABBA01055051;ABBA01055052;ABBA01055053;ABBA01055054;ABBA01055055;AJ000519;AK125396;AK291083;AK293179;AK299985;AK311761;AMYH02038115;AMYH02038116;AMYH02038117;AMYH02038118;AMYH02038119;AMYH02038120;AP000553;AP000557;AP000558;BC053368;BU567707;BU584304;CD690076;CH471095;CR456606;DA271653;HC309816;KF457366;NM_001256355;NM_001256356;NM_003347;NR_028436;NR_046082;S81003;X92962 AAB36017;AAH53368;BAF83772;BAG34704;BAG56722;BAG61806;CAA04156;CAA63538;CAG30492;CAK54633;CAK54932;CBJ21215;EAW59459;EAW59460;NP_001243284;NP_001243285;NP_003338;P68036 Hs.108104 1679672;1706886;1768181;1784548;1854861;1862752;2111131;2111968;2218850 A002P29;A004W47;D22S1588;D22S413E;REN2036;RH91525;SHGC-172570;SHGC-80930;UBE2L3_3884 E2-F1;L-UBC;UBCH7;UbcM4 OTTHUMP00000198565;ubiquitin carrier protein L3;ubiquitin-conjugating enzyme E2 L3;ubiquitin-conjugating enzyme E2-F1;ubiquitin-conjugating enzyme UBCH7;ubiquitin-protein ligase L3 APPROVED protein-coding ENSG00000185651 HGNC:12488 04762 603721 REVIEWED 1317456 UBE2L6 ubiquitin-conjugating enzyme E2L 6 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by the UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2011] 11 11 11 q12 54675648 54691971 - 57319128 57335803 - 57551655 57568330 - 1580863;6480464;6907045 10085091;10521492;10558980;10866800;10894956;11078524;11237715;11722579;11786535;12075357;12121982;12477932;14702039;15107846;15131269;15670748;16009940;16344560;16427630;16583136;16709802;17433363;17456438;18029348;18057259;18073335;18583345;19549727;19690564;19928833;20061386;20508617;21139048;21628527;21694720;21900206;22037423;22145905;22271254;24816145;9153201 9246 E9PKW8;E9PQT7;O14933 ABBA01021474;AF031141;AF061736;AJ243268;AK093462;AK129621;AK226165;AK315755;AMYH02024843;AP002893;BC032491;CH471076;CR457126;DA097307;H17887;NM_004223;NM_198183 AAB86433;AAD17525;AAH32491;ABM82217;ABM85401;BAG38109;CAB64566;CAG33407;EAW73755;EAW73756;EAW73757;EAW73758;EAW73759;NP_004214;NP_937826;O14933 Hs.425777 1650212;1712090;2150077 G54094;RH11705;STS-M79143 MGC40331;RIG-B;UBCH8 OTTHUMP00000234887;OTTHUMP00000234888;OTTHUMP00000234889;OTTHUMP00000234890;retinoic acid induced gene B protein;retinoic acid-induced gene B protein;ubiquitin carrier protein L6;ubiquitin-protein ligase L6;ubiquitin/ISG15-conjugating enzyme E2 L6 APPROVED protein-coding ENSG00000156587 HGNC:12490 04867 603890 REVIEWED 734464 UBE2I ubiquitin-conjugating enzyme E2I The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1573488 1589693 + 1357420 1377019 + 1309153 1327018 + 1302873;1642482;730030;2301343;2301345;6480464;6907045;7421504 11020223;15735760;16407042;17486098;21784126;9013644 10377438;10380882;10383460;10497239;10535925;10655495;10694430;10737800;10759568;10788439;10806190;10871618;10961991;11025202;11085938;11112409;11157797;11278381;11278694;11367701;11384992;11447110;11451954;11583632;11709548;11735126;11779867;11792325;11812797;11842083;11853669;11867732;11877416;11927605;11960997;12021447;12023963;12072434;12082530;12110916;12150977;12177000;12192048;12200128;12354770;12356736;12419227;12477932;12565873;12615929;12620973;12621041;12633878;12641448;12674497;12679040;12727872;12761287;12788062;12813045;12887893;12924945;14516784;14517060;14517261;14527952;14531806;14556380;14578449;14609633;14673145;14702039;14752048;14765993;15087395;15105549;15123615;15192080;15210726;15231748;15246872;15312759;15327968;15378033;15489334;15539951;15546615;15588942;15592428;15604093;15608651;15611122;15611636;15613319;15616553;15635413;15637059;15637079;15666801;15723523;15802564;15806172;15809060;15820677;15829507;15876874;15881673;15882978;15896780;15931224;15952105;15958389;15983381;16029420;16061479;16098147;16120648;16148010;16154161;16166628;16169070;16189514;16212558;16248985;16421094;16421255;16455055;16455490;16469311;16494873;16524884;16566921;16620772;16631117;16713569;16730941;16732283;16998888;17005699;17036045;17037517;17087506;17087659;17105732;17261810;17283066;17297476;17314004;17336575;17353931;17391059;17466333;17491593;17498654;17533377;17548468;17646165;17671234;17698038;17704809;17709345;17823119;17956732;17967884;17987106;18087039;18211895;18321803;18359863;18408014;18455188;18538659;18624398;18625722;18628979;18655774;18660489;18684836;18691969;18706886;18819927;18946085;19218564;19287951;19343802;19358266;19407830;19471022;19549727;19553542;19597476;19616115;19640976;19684601;19727227;19744555;19760037;19765634;19766626;19836047;19843541;19859084;19946338;19955185;19965618;20016594;20016603;20023705;20061386;20209145;20351170;20359522;20360068;20501649;20555024;20561671;20671745;20696768;20797634;20805487;20863840;20936779;20972456;21047957;21070824;21113135;21120624;21139048;21139563;21147068;21174150;21203974;21216249;21288202;21319273;21336309;21344391;21467194;21510985;21518904;21693764;21795333;21829513;21836637;21880185;21890473;21906983;21940674;21949651;21965678;21971700;21988832;21998312;22114711;22155184;22162396;22194619;22214662;22403398;22407595;22411991;22464730;22578841;22614022;22623531;22731716;22797925;22825850;22863883;22895527;22910413;22939629;23000965;23128241;23131550;23155000;23187003;23264041;23381475;23395904;23404503;23417673;23455924;23470653;23628505;23686912;23788427;23860269;23861967;23871147;23873416;23990779;24018422;24068740;24078263;24086615;24096733;24176171;24260396;24277415;24352468;24362530;24753249;24811749;24816145;24930734;25027693;25059663;8565643;8610150;8668125;8668529;8733011;8798622;8798754;8824223;8921390;8940097;9067428;9197546;9223484;9257699;9261152;9333025;9334332;9353268;9488727;9497385;9514881;9563508;9855622;9885291;9920803 7329 A8K503;B0QYN7;H3BPC4;H3BQQ9;H3BRD1;P63279 AB208988;ABBA01030312;ABBA01030313;AC120498;AE006466;AJ002385;AK024172;AK093616;AK291118;AL031714;AL833737;AMYH02031225;AMYH02031226;BC000427;BC000744;BC004429;BC004437;BC014997;BC051289;BC064492;BC069256;BE262845;BF315618;BG530957;BI523501;BI793063;BQ230918;BQ358820;BT006932;BT007010;BU146357;BU543455;CD249028;CH471112;CX788607;D45050;HC437980;HC449951;NM_003345;NM_194259;NM_194260;NM_194261;U29092;U31882;U31933;U38785;U45328;U66818;U66867;X96427;XM_005255540;XM_005255541;XM_006720938;XM_006720939 AAA86662;AAB02181;AAB09410;AAC50603;AAC50715;AAC50716;AAC51361;AAH00427;AAH04429;AAH51289;AAK61274;AAP35578;AAP35656;ABM82299;ABM85478;BAA08091;BAD92225;BAF83807;CAA05359;CAA65287;CBJ93564;CBK25700;EAW85673;EAW85674;EAW85675;EAW85676;EAW85677;EAW85678;EAW85679;NP_003336;NP_919235;NP_919236;NP_919237;P63279;XP_005255597;XP_005255598;XP_006721001;XP_006721002 Hs.302903 1653716;1852468;2132425;2162660;2183750;2218132;5019775;5020343 A009S20;G32807;RH70600;RH79139;SHGC-60704;SHGC-60764;SHGC-61088;UBE2I_3883 C358B7.1;P18;UBC9 OTTHUMP00000045512;OTTHUMP00000158627;OTTHUMP00000158628;OTTHUMP00000158629;OTTHUMP00000198126;OTTHUMP00000198127;OTTHUMP00000198131;SUMO-1-protein ligase;SUMO-conjugating enzyme UBC9;SUMO-protein ligase;ubiquitin carrier protein 9;ubiquitin carrier protein I;ubiquitin conjugating enzyme 9;ubiquitin-conjugating enzyme E2 I;ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast);ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9);ubiquitin-conjugating enzyme UbcE2A;ubiquitin-like protein SUMO-1 conjugating enzyme;ubiquitin-protein ligase E2I;ubiquitin-protein ligase I APPROVED protein-coding ENSG00000103275 HGNC:12485 09045 601661 REVIEWED 1323181 UBE2K ubiquitin-conjugating enzyme E2K The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p14 40137995 40223124 + 39699664 39784412 + 39698044 39782792 + 6480464;6907045 10222105;10634809;10668806;10675012;11513855;11916981;12477932;12665801;14702039;15280377;15383276;15489334;15723079;16007098;16344560;16714285;16868077;16877356;17092742;17353931;17429078;17500595;17558393;17597759;17632060;17719635;17873885;18485873;18662541;18691969;18710920;18781797;19471022;19549727;19712108;20537984;20639865;20826778;20965177;21139048;21139563;21281599;21565611;21693764;21890473;21900206;21906983;21963094;21988832;22053931;22164771;22496338;22505724;2265617;22939629;23000965;23275563;23824909;23933584;24250222;24654937;24882218;24912152;24930963;8125920;8702625;9535861;9700202;9857030 3093 B4DIZ2;D6RDM7;D6RFX1;P61086 AB022435;AB022436;ABBA01004133;ABBA01004134;ABBA01004135;ABBA01004136;ABBA01004137;AC105287;AC108471;AK093533;AK291454;AK295846;AK307130;AK315524;AL117568;AMYH02009057;AMYH02009058;AMYH02009059;BC022804;BC050600;BU622273;BX641089;CH471069;CX786829;DA526283;NM_001111112;NM_001111113;NM_005339;U58522 AAC50633;AAH22804;AAH50600;ABZ92425;BAA78555;BAA78556;BAF84143;BAG37905;BAG52736;BAG58654;EAW92946;EAW92947;EAW92948;EAW92949;EAW92950;NP_001104582;NP_001104583;NP_005330;P61086 Hs.50308 1657422;1682099;1685413;1735370;2157534;2178199;2191421;5091074 D4S2502E;G09829;MARC_21748-21749:1023808694:5;NIB2199;RH28678;RH98998;SHGC-67813;WI-14270 DKFZp564C1216;DKFZp686J24237;E2(25K);E2-25K;HIP-2;HIP2;HYPG;LIG;UBC1 OTTHUMP00000218439;OTTHUMP00000218440;OTTHUMP00000218441;OTTHUMP00000218442;huntingtin interacting protein 2;huntingtin-interacting protein 2;ubiquitin carrier protein;ubiquitin-conjugating enzyme E2 K;ubiquitin-conjugating enzyme E2(25K);ubiquitin-conjugating enzyme E2-25 KDA;ubiquitin-conjugating enzyme E2-25K;ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast);ubiquitin-protein ligase APPROVED protein-coding ENSG00000078140 HGNC:4914 04165 602846 REVIEWED 1602247 UBE2MP1 ubiquitin-conjugating enzyme E2M pseudogene 1 6 16 16 p11.2 66788734 66789694 - 34403802 34404762 - 35169431 35170391 - 606551 ABBA01002118;AC023824;AMYH02031953;AW376368;NR_002837 Hs.646441 1687497;2191771 MARC_7283-7284:996687724:1;RH79852 pseudo HGNC:32195 PROVISIONAL 1316910 UBE2M ubiquitin-conjugating enzyme E2M The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 56110258 56113522 - 59067079 59070343 - 58555712 58558976 - 1559272;6480464;6907045 15694336 10207026;10722740;10828074;11574546;12477932;12522145;12565873;15242646;15361859;15489334;16275327;16341674;16503656;16620772;16735510;17220875;17353931;17643375;18096514;18274552;18652489;18826954;19245792;19250909;19549727;19617556;19738201;19953087;20061386;20353940;21139048;21145461;21247897;21477582;21765416;21832049;21853274;21890473;21906983;21940857;21946088;21963094;21987584;22388932;22412018;22505724;22623428;22797925;22939629;23000965;23201271;23267066;23383273;23936405;24192928;24250222;24654937;24821572;24905733;24949976;9694792 9040 M0QX69;M0QYI6;P61081 AB012191;ABBA01020759;AC016630;AF075599;AL569047;AMYH02036539;BC058924;BM559596;BM798750;BT006754;BU508830;BX342697;CH471135;JC212076;NM_003969 AAC26141;AAH58924;AAP35400;BAA33145;CDM22105;EAW72612;EAW72613;NP_003960;P61081 Hs.406068 1669490;1687497;2110787;2191771 MARC_7283-7284:996687724:1;RH79852;STS-N23430;UBE2M_7933 UBC-RS2;UBC12;hUbc12 NEDD8 carrier protein;NEDD8 protein ligase;NEDD8-conjugating enzyme Ubc12;ubiquitin carrier protein M;ubiquitin-conjugating enzyme E2 M;ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast);ubiquitin-protein ligase M;yeast UBC12 homolog APPROVED protein-coding ENSG00000130725 HGNC:12491 04414 603173 REVIEWED 1343621 UBE2NL ubiquitin-conjugating enzyme E2N-like This gene is intronless and encodes a member of the ubiquitin-conjugating enzyme family. The protein product is 91% identical to ubiquitin-conjugating enzyme E2N, a multi-exon gene product. This locus represents a polymorphic pseudogene, where some individuals contain an allele that can encode a full-length protein, while others have a non-functional allele containing a premature stop codon (reference SNP rs237520) that truncates the coding sequence. [provided by RefSeq, Jun 2014] X X X q27.3 143254462 143255646 + 142967173 142968362 + 143884071 143885255 + 6480464;6907045;8554872 15772651;17643375;19377476;20736409;21139048;21890473;21906983;21963094;22053931;22623428;23000965;24816145 389898 Q5JXB2 ABBA01066437;ABBA01066438;AL109622;AL135920;AMYH02040697;GU727624;NG_016268;NM_001012989;NR_121210 ADU87626;CAB72341;NP_001013007;Q5JXB2 Hs.585177 1701804;5113181 DXS7902;RH80774 Li174 OTTHUMP00000024189;epididymis tissue protein Li 174;putative ubiquitin-conjugating enzyme E2 N-like APPROVED protein-coding HGNC:31710 18504 REVIEWED 1352894 UBE2NP1 ubiquitin-conjugating enzyme E2N pseudogene 1 14 14 q11.2 22079928 22080598 - 21611924 21612381 - 8188290;9110172 100288613;317770 ABBA01061262;AC243972;AE000521;NG_031850 pseudo HGNC:20337 INFERRED 6480820 UBE2Q1-AS1 UBE2Q1 antisense RNA 1 q21.3 100874097 AL592078;AW070285;NR_046668 APPROVED ncrna HGNC:40722 VALIDATED 1348630 UBE2N ubiquitin-conjugating enzyme E2N The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Studies in mouse suggest that this protein plays a role in DNA postreplication repair. [provided by RefSeq, Jul 2008] 12 12 12 q22 93472777 93506718 - 93802088 93836026 - 93408312 93442250 - 5490218;5490215;5685014;6480464;6484113;6907045;8661232;8661237 18535784;20086235;21235323;21533982;24326623 10089880;11057907;11473244;11473255;12039045;12477932;12569095;12705856;12834344;12847084;12881723;12938929;14517261;14562038;14695475;14702039;15125833;15147900;15231748;15258597;15276183;15327770;15489334;15749714;16009940;16112642;16122702;16129784;16130169;16196087;16215985;16307917;16396496;16547522;16868077;17000756;17060341;17108083;17135271;17327397;17349954;17550899;17553932;17709375;17846173;17873885;17942533;17994549;17997719;18029035;18032921;18077395;18178771;18316726;18391951;18615712;18617513;18678647;18710948;18781797;18838541;19013454;19034380;19165527;19203578;19269966;19322201;19340006;19393081;19465916;19549727;19615732;19651615;19690564;19712108;19738201;19810754;19880420;20023648;20047764;20061386;20146531;20546612;20553626;20577214;20613989;20639865;20725033;20864041;20972266;21048031;21113135;21114314;21139048;21143188;21204785;21226485;21319273;21512569;21512573;21518764;21572451;21575904;21622030;21694720;21706008;21734303;21774837;21866272;21890473;21903422;21906983;21911360;21963094;21965653;21987572;22053931;22055568;22184250;22367539;22433856;22493164;22505724;22589545;22679021;22693631;22797923;22814251;22939629;23000965;23007157;23115235;23255131;23418353;23453969;23542009;23633953;23751493;23824909;23885119;23892723;23965929;24023840;24071738;24250222;24610393;24732096;24816145;24905733;24980434;25015289;25036637;8889548;8902611;9644242 7334 F8VQQ8;F8VSD4;F8VV71;F8VZ29;P61088;V9HW41 ABBA01053376;AC025260;AK098233;AL110140;AMYH02026945;BC000396;BC003365;BC108704;BI459891;BT006873;CB243041;CH471054;D83004;E12457;FJ224354;NM_003348 AAH00396;AAH03365;AAI08705;AAP35519;ABM87762;ABW03914;ABW03917;ACI46046;BAA11675;EAW97480;EAW97481;EAW97482;NP_003339;P61088 Hs.524630 1659186;2123946;2157648;2178766;5113181 BCD1455;NIB1585;RH80774;STS-N63414;WI-19812 HEL-S-71;MGC131857;MGC8489;UBC13;UBCHBEN;UbcH-ben;UbcH13 OTTHUMP00000243086;OTTHUMP00000243090;bendless-like ubiquitin conjugating enzyme;bendless-like ubiquitin-conjugating enzyme;epididymis secretory protein Li 71;ubiquitin carrier protein N;ubiquitin-conjugating enzyme E2 N;ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast);ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13);ubiquitin-protein ligase N;yeast UBC13 homolog APPROVED protein-coding HGNC:12492 04725 603679 REVIEWED 1606786 UBE2O ubiquitin-conjugating enzyme E2O ENCODES a protein that exhibits poly(A) RNA binding; ubiquitin-protein transferase activity; INVOLVED IN positive regulation of BMP signaling pathway; protein K63-linked ubiquitination; protein monoubiquitination; PARTICIPATES IN ubiquitin/proteasome degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 2-methylcholine; atrazine; cobalt dichloride 17 17 17 q25.1 70977988 71041666 - 74385613 74449288 - 76389532 76453206 - 6480464;6907045;8554872 11214970;11311559;12477932;12522145;12938929;14702039;15385968;15489334;15862967;16344560;17550899;19549727;19615732;20237496;20639865;21139048;21890473;21906983;21963094;22053931;22145905;22190034;22505724;22586326;22863883;22939629;22952844;22990118;23000965;23381138;23455153;23751493;24703950;24778252;24816145;25015289;8125298;8634298 63893 K7EQ12;K7ES11;Q9C0C9 AB051521;ABBA01028742;ABBA01028743;ABBA01028744;ABBA01028745;ABBA01028746;AC015802;AC090699;AK000926;AK022940;AK024657;AK025999;AK225412;AL832432;AMYH02034013;BC004525;BC007822;BC022237;BC025977;BC036820;BC051868;CH471099;DA092358;KF456323;KF510428;NM_022066;XM_005257567;XM_005257568 AAH04525;AAH22237;AAH25977;AAH36820;AAH51868;BAB14320;BAB14948;BAB15313;BAB21825;CAH10644;EAW89395;EAW89396;EAW89397;EAW89398;EAW89399;NP_071349;Q9C0C9;XP_005257624;XP_005257625 Hs.16130 1299973;1718405;1734466;1776568;2165270;2219786;7186445 Cda01a06;D17S1431E;D17S785;E2-230K__6373;G17963;RH122977 E2-230K;FLJ12878;KIAA1734 E2/E3 hybrid ubiquitin-protein ligase UBE2O;ubiquitin carrier protein O;ubiquitin-conjugating enzyme E2 O;ubiquitin-conjugating enzyme E2 of 230 kDa;ubiquitin-conjugating enzyme E2-230K;ubiquitin-protein ligase O protein-coding ENSG00000175931 HGNC:29554 10928 VALIDATED 1313256 UBE2Q1 ubiquitin-conjugating enzyme E2Q family member 1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127592683 127602752 - 154521051 154531138 - 154548575 154558662 - 1580863;6480464;6907045 11230159;12107410;12477932;14702039;15489334;16275660;16710414;18511602;19549727;19690564;20682791;21139048;21890473;22124266;22167327;23000965;24197692 55585 Q29SN7;Q7Z7E8 ABBA01049489;ABBA01049490;AF116721;AJ243666;AK056388;AK293986;AL592078;AMYH02001927;AY112698;AY948200;BC000848;BC009286;BC015316;BC061583;BC070158;BC087836;BC107057;BC148185;BQ278712;CA391436;CH471121;CR457219;NM_017582;XM_005245315 AAF71141;AAH00848;AAH15316;AAH61583;AAH70158;AAH87836;AAI07058;AAI48186;AAI72317;AAM60814;AAY23342;BAB71173;BAG57353;CAB65097;CAG33500;EAW53193;NP_060052;Q7Z7E8;XP_005245372 Hs.607928 1647678;1851472;5126688 A002R33;D1S3272;WI-19713 GTAP;NICE-5;PRO3094;UBE2Q OTTHUMP00000035378;galactosyl transferase-associated protein;ubiquitin carrier protein Q1;ubiquitin-conjugating enzyme E2 Q1;ubiquitin-conjugating enzyme E2Q (putative) 1;ubiquitin-conjugating enzyme e2q (putative);ubiquitin-protein ligase Q1 APPROVED protein-coding ENSG00000160714 HGNC:15698 15601 REVIEWED 1604922 UBE2Q2P1 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1 15 15 15 q25.2 61444026 61444513 + 85070427 85114026 - 84527196 84570795 - 24778558 388165 ABBA01052939;ABBA01052940;AC048382;AC244519;AK125266;NR_003661 BAC86104 Hs.498348 1783294;5014051;5015961;5021872;5022578;5037552 D15S1477;D1S1423;D8S2278;D8S2279;SHGC-172055;sY3084 FLJ43276;UBE2QP1 APPROVED pseudo ENSG00000189136 HGNC:37439 13471 PROVISIONAL 7777315 UBE2Q2P10 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 10 8 8 87672594 87674087 - 86660289 86663665 - 101928256 ABBA01037365;AC013751;AMYH02018363 pseudo HGNC:49518 MODEL 1605308 UBE2Q2 ubiquitin-conjugating enzyme E2Q family member 2 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein K48-linked ubiquitination; PARTICIPATES IN ubiquitin/proteasome degradation pathway; FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 3,3',4,4',5-pentachlorobiphenyl; 7,9-dihydro-1H-purine-2,6,8(3H)-trione 15 15 15 q24.2 53061306 53119318 + 76135622 76193388 + 75843286 75901047 + 6480464;6907045 12477932;15489334;16300736;17207965;17471241;19322201;19549727;19690564;19723876;20061386;20193842;20383146;21113135;21139048;22642244;23263486 92912 E9PHD0;H3BN94;H3BV95;Q8WVN8 AA476260;ABBA01060540;ABBA01060541;AC019294;AC027104;AK000617;AK294199;AK296234;AL117641;AL832429;AMYH02030821;BC006827;BC017708;BC034342;CH471136;DR001046;NM_001145335;NM_001284382;NM_173469;XM_005254787;XM_005254788;XM_006720770 AAH06827;AAH17708;AAH34342;ADQ32710;BAG57513;BAH12288;CAH10654;EAW99233;EAW99234;NP_001138807;NP_001271311;NP_775740;Q8WVN8;XP_005254844;XP_005254845;XP_006720833 Hs.23033 1656075;1666531;1699248;1737963;1752563 D11S3570;G17835;RH103205;SHGC-106475;STS-N25939 DKFZp762C143 OTTHUMP00000183523;ubiquitin carrier protein Q2;ubiquitin-conjugating enzyme E2 Q2;ubiquitin-protein ligase Q2 protein-coding ENSG00000140367 HGNC:19248 14294 612501 VALIDATED 7778998 UBE2Q2P11 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 11 15 15 84967466 84975473 - 84412768 84420775 - 100421767 AC136704;AC243562;NG_025347 pseudo HGNC:49522 INFERRED 7779640 UBE2Q2P12 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 12 15 15 85034705 85042768 - 84491474 84499537 - 100421768 AC048382;AC244519;NG_025348 pseudo HGNC:49523 INFERRED 2816376 UBE2Q2P2 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 2 15 15 15 q25 59611080 59645451 + 82647286 82707816 + 82355068 82415611 + 12477932;15146197;16344560;9847074 100134869 ABBA01009561;AC011295;AC135995;AC139425;AC243919;BC066934;BI916968;BQ549460;CN343524;DA194105;DA527368;DA778756;NR_004847;NR_024474 Hs.735222;Hs.745450 MGC87249;UBE2Q2P3;UBE2QP2 pseudo HGNC:37440 VALIDATED 2837480 UBE2Q2P4Y ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 4, Y-linked Y Y Y 10549330 10555497 - 26378973 26385140 - 24232826 24238993 - 100421716 ABBA01030399;AC012005;NG_021926 UBE2Q2PY1 pseudo HGNC:38429 INFERRED 3231869 UBE2Q2P3 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 3 15 15 15 q25.2 59611080 59645843 + 83023773 83084733 + 82355068 82416003 + 16344560 100133144 ABBA01009561;AC011295;AC243919;BI916968;BQ549460;DA527368;NR_024474 Hs.745450 5015861;7185938 D10S16 pseudo HGNC:37669 VALIDATED 4108527 UBE2Q2P5Y ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 5, Y-linked Y Y 27577294 27583462 + 25431147 25437315 + 100421717 AC006328;NG_004755 UBE2Q2PY2 pseudo HGNC:38466 VALIDATED 7777365 UBE2Q2P8 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 8 15 15 84917170 84924784 + 84248418 84256032 + 100421771 AC136698;NG_025401 pseudo HGNC:49521 INFERRED 2798685 UBE2QL1 ubiquitin-conjugating enzyme E2Q family-like 1 ENCODES a protein that exhibits acid-amino acid ligase activity (inferred); ATP binding (inferred); INVOLVED IN protein ubiquitination (inferred); PARTICIPATES IN ubiquitin/proteasome degradation pathway; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; coumestrol 5 5 5 p15.31 6476425 6520375 + 6437460 6496834 + 6437347 6496721 + 6480464;6907045;8554872 12477932;14702039;24000165;8889548 134111 A1L167 AB188494;ABBA01016146;AC093307;AK057805;AK096612;AK308577;AMYH02010804;AMYH02010805;BC127723;BC150554;BU726418;CH471102;NM_001145161;XM_005248247 A1L167;AAI27724;AAI50555;EAX08109;NP_001138633;XP_005248304 Hs.126856;Hs.731466 1649863;1695318;1717153;1735508;1754889;1762243;1858409;2118970;2143474;2158032;2184638 A003B33;D5S1575E;D5S1637E;RH121499;RH36019;RH79039;SHGC-141817;SHGC-146107;SHGC-63488;SHGC-63489;STS-AA017236 FLJ25076;FLJ39293 OTTHUMP00000220565;ubiquitin-conjugating enzyme E2Q-like protein 1 protein-coding HGNC:37269 615832 VALIDATED 8656613 UBE2R2-AS1 UBE2R2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 9 9 p13.3 33798493 33819642 - 33782070 33819644 - 8554872 18711365 101929665 ABBA01065040;ABBA01065041;ABBA01065042;AL139113;AL356489;AL358573;AL538916;AMYH02019429;HG501976;XR_242542;XR_250437;XR_252523 Hs.571604 ncrna HGNC:49911 MODEL 1321905 UBE2R2 ubiquitin-conjugating enzyme E2R 2 Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 33749030 33852202 + 33817162 33920401 + 33817164 33920403 + 1580863;6480464;6907045 10737800;12037680;12477932;14702039;15146197;15164053;15489334;17597759;19549727;19851296;20061386;20198315;20379614;21139048;21890473;21900206;21906983;21963094;22863883;23000965;23453757;24816145;8125298 54926 Q712K3 AA397839;ABBA01065035;ABBA01065036;ABBA01065037;ABBA01065038;ABBA01065039;ABBA01065040;ABBA01065041;AJ240087;AK000426;AK225880;AL133827;AL139113;AMYH02019429;AW966809;BC004862;BC038356;BC047584;BI061548;BI908167;BQ432410;CD515389;CH471071;CN310827;CN427315;CR457233;NM_017811;XM_005251496 AAH04862;AAH47584;BAA91156;CAC80336;CAG33514;EAW58478;EAW58479;EAW58480;NP_060281;Q712K3;XP_005251553 Hs.643648 1336757;1763901;2130964 D9S1817;SHGC-147568;STS-AA029821 CDC34B;E2-CDC34B;FLJ20419;MGC10481;UBC3B OTTHUMP00000021236;ubiquitin carrier protein R2;ubiquitin-conjugating enzyme E2 R2;ubiquitin-conjugating enzyme E2-CDC34B;ubiquitin-conjugating enzyme UBC3B;ubiquitin-protein ligase R2 APPROVED protein-coding ENSG00000107341 HGNC:19907 15602 612506 REVIEWED 7777704 UBE2Q2L ubiquitin-conjugating enzyme E2Q family member 2-like 15 15 84841138 84854921 + 84172490 84182233 + 100505679 H0YL09 AC136698;AMYH02030945;CB050071;NM_001243531 H0YL09;NP_001230460 Hs.726826 uncharacterized protein LOC100505679 protein-coding ENSG00000259511 HGNC:44656 VALIDATED 1604198 UBE2SP1 ubiquitin-conjugating enzyme E2S pseudogene 1 17 17 17 p11.2 698 1710 - 15607393 15608407 - 15704079 15705093 - 246719 ABBA01035680;AC005324;AMYH02033057;NG_001583 pseudo HGNC:30864 INFERRED 1343646 UBE2S ubiquitin-conjugating enzyme E2S This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a characteristic property of ubiquitin carrier proteins. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 52953367 52960045 - 55912650 55919325 - 55401282 55407957 - 1580863;6480464;6907045 12477932;12524449;12938929;1379239;15146197;15489334;16201836;17207965;17597759;17643375;18780286;19083192;19549727;19820702;19822757;20061386;20080579;20622874;20639865;21048196;21113135;21139048;21281817;21376237;21832049;21890473;21906983;21963094;22053931;22069333;22505724;22529100;22895574;22939629;23000965;23383273;23708001;23708605;24797263;24813613;24816145;25043029;8576261 27338 K7EM75;K7EPJ1;Q16763 AB062397;ABBA01068094;ABBA01068095;AC020922;AMYH02036465;BC004236;BC007554;BC065364;BC066948;CA421746;CH471135;CN305224;DQ120718;M91670;NM_014501 AAA58446;AAH04236;AAH07554;AAH65364;AAH66948;ABC40675;ADQ33000;BAB93484;EAW72377;NP_055316;Q16763 Hs.396393 5121346 WI-7148 E2-EPF;E2EPF;EPF5 E2-EPF5;ubiquitin carrier protein S;ubiquitin-conjugating enzyme E2 S;ubiquitin-conjugating enzyme E2-24 kD;ubiquitin-conjugating enzyme E2-24 kDa;ubiquitin-conjugating enzyme E2-EPF5;ubiquitin-protein ligase S APPROVED protein-coding HGNC:17895 15603 610309 REVIEWED 7405868 UBE2Q2P6 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 6 15 15 82738858 82746867 + 82446712 82454702 + 9847074 100421769 AC010724;AC135995;AC243919;AC245033;NG_025398 pseudo HGNC:49412 INFERRED 7402796 UBE2Q2P7 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 7 15 15 82993056 83001063 - 113411 121418 - 100421766 AC011295;NG_025343 pseudo HGNC:49413 INFERRED 1606013 UBE2T ubiquitin-conjugating enzyme E2T (putative) The covalent conjugation of ubiquitin to proteins regulates diverse cellular pathways and proteins. Ubiquitin is transferred to a target protein through a concerted action of a ubiquitin-activating enzyme (E1), a ubiquitin-conjugating enzyme (E2), such as UBE2T, and a ubiquitin ligase (E3) (Machida et al., 2006 [PubMed 16916645]).[supplied by OMIM, Mar 2008] 1 1 1 q32.1 175424694 175435001 - 202300785 202311094 - 202331657 202341966 - 6480464 10931946;11042152;12477932;12938929;14702039;15489334;16196087;16710414;16916645;17203973;17550899;17597759;17938197;18029348;18667844;18781797;19111657;19471022;19549727;19589784;19690564;19887602;20061386;20639865;21139048;21693764;21722982;21775430;21890473;21906983;21963094;22053931;22287633;22505724;22939629;23000965;23535733;23936387;24250222;24389026;24623813;24816145;25015289 29089 Q9NPD8 AB032931;ABBA01027504;AF160215;AF161499;AK000504;AL356953;AMYH02002495;AMYH02002496;AY542309;BC004152;BC019284;BG776416;CH471067;CS063588;NM_014176 AAF29114;AAF67016;AAH04152;AAH19284;AAT08178;ABM83655;ABM86901;BAA91211;BAA93711;CAI84529;EAW91411;EAW91412;EAW91413;EAW91414;EAW91415;NP_054895;Q9NPD8 Hs.5199 1663552;1669790 SHGC-32766;WI-17936 HSPC150;PIG50 HSPC150 protein similar to ubiquitin-conjugating enzyme;OTTHUMP00000038808;cell proliferation-inducing gene 50 protein;ubiquitin carrier protein T;ubiquitin conjugating enzyme;ubiquitin-conjugating enzyme E2 T;ubiquitin-protein ligase T APPROVED protein-coding ENSG00000077152 HGNC:25009 13704 610538 VALIDATED 1352007 UBE2V1P1 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1 20 20 20 p13 3403128 3404990 - 3341131 3342993 - 3360484 3362346 - 170556 ABBA01053822;AL117334;AMYH02036597;NG_001061;NG_031974 dJ687F11.3 pseudo HGNC:16581 INFERRED 2301121 UBE2V1P2 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 2 3 3 3 q26.31 173837455 173838134 - 175435781 175436461 - 175717993 175718673 - 730052 ABBA01058608;AC119744;AMYH02008184;NG_008616 pseudo HGNC:32648 INFERRED 5684197 UBE2SP2 ubiquitin-conjugating enzyme E2S pseudogene 2 17 17 p11.2 18580574 18581325 + 18677261 18678012 + 440406 AC026271;AMYH02033116;NG_031882 pseudo HGNC:32196 INFERRED 7204967 UBE2V1P5 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 5 10 10 10 q25.3 109604602 109606492 + 115876906 115877312 + 114117147 114117553 + 100287173 ABBA01062982;AC022023;AMYH02023848;NG_030120 pseudo HGNC:44888 INFERRED 1346082 UBE2V1 ubiquitin-conjugating enzyme E2 variant 1 Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Alternatively spliced transcript variants encoding multiple isoforms have been described for this gene, and multiple pseudogenes of this gene have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Apr 2012] 20 20 20 q13.2 45402229 45437046 - 48697661 48732496 - 50081124 50115959 - 5490218;5490215;5685014;6480464;6484113 18535784;20086235;21235323 10089880;11057907;11076848;11076860;11280764;11780052;12477932;12481031;12834344;14702039;15146197;15147900;15276183;15327770;15489334;16129784;16215985;16236267;16307917;16344560;16547522;16893187;17041755;17135271;17207965;17709375;18029035;18042044;18570872;18678647;18710948;19549727;19675569;19713527;19734906;20501938;20613989;20940148;21143188;21204785;21512569;21512573;21565611;21572451;21575904;21694720;21706008;21866272;21890473;21911421;22505724;22632162;22863883;22939629;23000965;23885119;23892723;24076975;24250222;24816145;8889548;9305758;9418904;9580084;9705497;9771976 7335 D6RG00;Q13404 ABBA01052772;ABBA01052773;AF049671;AI688615;AK314754;AL110132;AMYH02037228;AMYH02037229;AY008273;BC000468;BC005215;BC008944;BF446402;BF690501;BT007382;BU540046;BU595183;BU934624;BX375182;BX647511;BX648147;CA453411;CD103154;CF127653;CH471077;CN346855;DA087027;DA409547;DA519011;DA573591;DA625165;DA642098;DA696213;DA885410;DA892136;DA916492;DB448941;HY019085;KF456937;NG_029526;NM_001032288;NM_001257393;NM_001257394;NM_001257395;NM_001257396;NM_001257397;NM_001257398;NM_001257399;NM_001282575;NM_001282576;NM_001282577;NM_001282578;NM_001282579;NM_001282580;NM_021988;NM_022442;NM_199144;NR_047554;NR_104218;U39360;U97279;U97280;U97281 AAB72015;AAC02755;AAC02756;AAC02780;AAG24229;AAH00468;AAH08944;AAP36046;ADQ33153;EAW75634;EAW75635;EAW75636;EAW75639;NP_001027459;NP_001244322;NP_001244323;NP_001244324;NP_001244325;NP_001244326;NP_001244327;NP_001244328;NP_001269504;NP_001269505;NP_001269506;NP_001269507;NP_001269508;NP_001269509;NP_068823;NP_071887;NP_954595;Q13404 Hs.420529;Hs.744839 1773904;1791702;1791704;2156953;2184323;5024411;5106423;5117202;5126825;5126827 D2S1964;G26465;GDB:451742;HSC0RC102;PMC121525P1;PMC121525P2;PMC121525P3;PMC121525P4;RH11748;SHGC-173 CIR1;CROC-1;CROC1;UBE2V;UEV-1;UEV1;UEV1A DNA-binding protein;OTTHUMP00000031795;OTTHUMP00000031796;OTTHUMP00000031801;OTTHUMP00000031805;OTTHUMP00000039980;TRAF6-regulated IKK activator 1 beta Uev1A APPROVED protein-coding ENSG00000244687 HGNC:12494 602995 REVIEWED 7204968 UBE2V1P6 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 6 2 2 2 q31.1 163595125 163597532 + 169971705 169972184 + 169115195 169115674 + 100287279 ABBA01004962;AC007556;AMYH02005176;NG_030150 pseudo HGNC:44889 INFERRED 7204951 UBE2V1P9 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 9 X X q21.31 89544538 89544848 - 90289539 90289849 - 100131981 AL121873;AMYH02039942;NG_030278 1772551 D1S57 pseudo HGNC:44894 INFERRED 7204912 UBE2V2P1 ubiquitin-conjugating enzyme E2 variant 2 pseudogene 1 10 10 10 p12.31 19025673 19026390 + 19340384 19341101 + 19051455 19052172 + 100128493 ABBA01034530;AL357520;AL450470;AMYH02022389;NG_022163 2156953;2184323 G26465;SHGC-173 pseudo HGNC:44885 INFERRED 7204938 UBE2V2P3 ubiquitin-conjugating enzyme E2 variant 2 pseudgene 3 1 1 1 10450932 10451594 - 11338671 11339333 - 11278614 11279276 - 100421341 ABBA01003045;AL031291;AMYH02000288;NG_026910 pseudo HGNC:44891 INFERRED 1318163 UBE2V2 ubiquitin-conjugating enzyme E2 variant 2 Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008] 8 8 8 q11.21 44906250 44959689 + 48920966 48977268 + 48008435 48064708 + 1580863;6480464 10089880;11473244;11473255;12039045;12477932;12569095;12665801;12834344;12847084;14517261;14562038;14695475;14702039;15147900;15489334;15725630;15749714;15952783;16112642;16122702;16129784;16169070;16215985;16518696;16786304;17108083;17218787;17349954;17964296;18178771;18284681;18316726;18678647;19549727;20029029;20047764;21114314;21139048;21143188;21774837;21890473;21906983;22505724;22589545;22679021;22939629;23000965;23751493;24076975;24816145;24846979;9199207;9418904;9705497 7336 A0M8W4;E5RIF1;G3V113;H0YBP9;H0YBX6;Q15819 ABBA01041648;ABBA01041649;ABBA01041650;AC021236;AF049140;AK094617;AK123928;AK313447;AMYH02017944;AMYH02017945;BC007051;BC016332;BC016710;BC028673;BC062418;BT006744;CH471068;CR407628;DQ003720;NM_003350;U62136;X98091;XM_005251300 AAB04758;AAC05381;AAH07051;AAH16332;AAH16710;AAH28673;AAH62418;AAP35390;AAY16979;ABM83433;ABM86647;ABW03321;ABW03463;ABW03497;BAG36236;CAA66717;CAG28556;EAW86687;EAW86688;EAW86689;EAW86690;NP_003341;Q15819;XP_005251357 Hs.491695;Hs.595400 1710896;1750863;1775618;2157355;2186742;5015961;5022322 D11S2560;D15S1477;RH48535;RH66144;SHGC-104623;SHGC-5776;SHGC-84240 DDVIT1;DDVit-1;EDAF-1;EDPF-1;EDPF1;MMS2;UEV-2;UEV2 1 alpha,25-dihydroxyvitamin D3-inducible;DDVit 1;MMS2 homolog;OTTHUMP00000226192;OTTHUMP00000226193;OTTHUMP00000226194;OTTHUMP00000226195;OTTHUMP00000226196;OTTHUMP00000226197;enterocyte differentiation promoting factor;enterocyte differentiation-associated factor 1;enterocyte differentiation-associated factor EDAF-1;enterocyte differentiation-promoting factor 1;methyl methanesulfonate sensitive 2, S. cerevisiae, homolog of;vitamin D3-inducible protein APPROVED protein-coding HGNC:12495 04300 603001 REVIEWED 5131595 UBE2WP1 ubiquitin-conjugating enzyme E2W pseudogene 1 1 1 p21.3 96884129 96884478 + 96418573 96418922 + 619457 ABBA01045486;AC092393;AMYH02001527;NG_028833 UBE2WP pseudo HGNC:32198 INFERRED 1605362 UBE2W ubiquitin-conjugating enzyme E2W (putative) This gene encodes a nuclear-localized ubiquitin-conjugating enzyme (E2) that, along with ubiquitin-activating (E1) and ligating (E3) enzymes, coordinates the addition of a ubiquitin moiety to existing proteins. The encoded protein promotes the ubiquitination of Fanconi anemia complementation group proteins and may be important in the repair of DNA damage. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 8 8 8 q21.11 70700536 70788851 - 74692332 74791145 - 73780097 73878910 - 6480464;6907045 12477932;14702039;15489334;16169070;16344560;16368532;17597759;17873885;19111657;19322201;19549727;19690564;19712108;19851334;20061386;21113135;21139048;21229326;21518764;21855799;21900206;21965653;22157707;23509263;23560854;23696636;8125298 55284 E5RG25;H0YB73;Q96B02;Q96FI0;X6REH9 ABBA01041972;ABBA01041973;ABBA01041974;AC022826;AC022868;AK001873;AK021735;AK024050;AK123531;AK225554;AK295792;AMYH02018223;AMYH02018224;AMYH02018225;AMYH02018226;AMYH02018227;AMYH02018228;AMYH02018229;AY948289;BC010900;BC016326;BU155172;BX538145;BX648427;CH471068;CR457275;DA352184;NM_001001481;NM_001271015;NM_018299;NR_073119;NR_073120;NR_073121 AAH10900;AAH16326;AAY24555;ABZ92026;BAA91954;BAB13883;BAB14800;BAG58613;CAG33556;EAW87009;EAW87010;EAW87011;EAW87012;NP_001001481;NP_001257944;NP_060769;Q96B02 Hs.128841 1673486;1685608;1693552;1730355;1748681;1749041;2160660;5016478;5494161;7185578 D8S288E;GDB:434012;RH45649;RH80693;SHGC-110342;SHGC-110674;SHGC-58464;STS-AA025113;fb73f06.x1 FLJ11011;UBC-16;UBC16;hUBC-16 N-terminus-conjugating E2;OTTHUMP00000226882;OTTHUMP00000226883;probable ubiquitin-conjugating enzyme E2 W;ubiquitin carrier protein W;ubiquitin-conjugating enzyme 16;ubiquitin-conjugating enzyme 2W;ubiquitin-conjugating enzyme E2 W;ubiquitin-protein ligase W APPROVED protein-coding ENSG00000104343 HGNC:25616 07724 614277 REVIEWED 1606510 UBE2Z ubiquitin-conjugating enzyme E2Z This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012] 17 17 17 q21.32 43440014 43460620 + 46985731 47006422 + 48908369 48929060 + 6480464;6907045;8554872 12477932;14702039;15489334;15761153;16169070;16189514;16344560;17160626;17597759;18029348;18976975;19549727;19690564;20975683;21139048;21378990;21816346;21890473;21906983;21963094;22053931;22321011;22427669;22939629;23000965;23824909;24528925;24816145 65264 D6RB11;H0Y9X8;I3L286;I3L3V3;I3L4C5;Q9H832 AA843379;AA845421;AB025426;ABBA01041182;ABBA01041183;AC091133;AK023917;AK024030;AK091644;AK122770;AK130303;AK296865;AL713782;AMYH02033552;BC015169;BC015890;CH471109;CR457322;DA928380;EF623992;NM_023079 AAH15169;AAH15890;ABR25252;BAB14724;BAB14789;BAB87810;BAG59428;CAD28542;CAG33603;EAW94701;EAW94702;EAW94703;EAW94704;NP_075567;Q9H832 Hs.514297 1656463;1660019;2152192;5093294 A009L01;G32634;RH17824;RH48263 FLJ13855;HOYS7;USE1 OTTHUMP00000197726;UBA6-specific enzyme E2;uba6-specific E2 conjugating enzyme 1;ubiquitin carrier protein Z;ubiquitin-conjugating enzyme E2 Z;ubiquitin-protein ligase Z APPROVED protein-coding ENSG00000159202 HGNC:25847 08589 611362 VALIDATED 1346140 UBE3AP2 ubiquitin protein ligase E3A pseudogene 2 21 21 21 q21.3 17615309 17618456 - 32432339 32435486 - 31060020 31063167 - 10830953;9465301 7339 ABBA01057280;AF010599;AMYH02037707;AP000245;NG_001210 1789298;1850126 G67875;SHGC-52105 pseudo HGNC:12498 INFERRED 1350438 UBE3B ubiquitin protein ligase E3B The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012] 12 12 12 q24.11 109539814 109598873 + 109915215 109974510 + 109477410 109536705 + 1580863;6480464;6907045;8699517;8554872;7240710 10962193;11483580;12477932;12689446;12837265;14702039;15489334;16344560;16751776;17672918;18781797;20379614;20864672;21139048;21565611;21906983;23200864;23687348;24615390;24811749;24816145 89910 B7Z6V9;F5H5T5;F5H6D6;Q7Z3V4;S4R3H8 ABBA01005069;AC007570;AF130072;AF251046;AK022019;AK056015;AK127227;AK301036;AK304678;AK307385;AL096740;AMYH02027172;BC013182;BC020348;BC032301;BC040155;BC051266;BC068221;BC108705;BC141880;BC144684;BC150637;BQ889238;BX537403;CH471054;DA771082;DQ570810;DR760197;NG_033898;NM_001270449;NM_001270450;NM_001270451;NM_130466;NM_183415;XM_005253987;XM_006719681;XM_006719682;XR_429118;XR_429119 AAH32301;AAH51266;AAH68221;AAI08706;AAI41881;AAI50638;AAK28419;BAG65450;BAH13395;CAD97645;CAH56410;EAW97865;EAW97866;EAW97867;EAW97868;NP_001257378;NP_001257379;NP_001257380;NP_569733;NP_904324;Q7Z3V4;XP_005254044;XP_006719744;XP_006719745 Hs.374067 1671568;1673397;1681018;2134805;2187501;2190957;5024064 G12108;MARC_12083-12084:1008774253:1;RH46180;RH70162;RH80161;WI-11698;WI-20952 BPIDS;DKFZp586K2123;DKFZp686A1051;FLJ45294;MGC131858;MGC78388 OTTHUMP00000240552;OTTHUMP00000240554;OTTHUMP00000240555;OTTHUMP00000240558;ubiquitin-protein ligase E3B APPROVED protein-coding ENSG00000151148 HGNC:13478 06993 608047;615057 REVIEWED 1606149 UBE2U ubiquitin-conjugating enzyme E2U (putative) ENCODES a protein that exhibits acid-amino acid ligase activity (inferred); ATP binding (inferred); INVOLVED IN protein ubiquitination (inferred); PARTICIPATES IN ubiquitin/proteasome degradation pathway; INTERACTS WITH 1H-pyrazole (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); mono(2-ethylhexyl) phthalate (ortholog) 1 1 1 p31.3 62959589 63000068 + 64669135 64732969 + 64203603 64267286 + 6480464;6907045 12477932;15489334;16710414;19549727;19690564 148581 Q5VVX9;V9GYA6;V9GZ31 ABBA01074564;AL161916;AL445205;AMYH02001160;BC029895;CH471059;NM_152489;XM_005270498;XM_005270499;XM_006710379;XR_246236 AAH29895;ABM82238;ABM85422;EAX06552;EAX06553;EAX06554;NP_689702;Q5VVX9;XP_005270555;XP_005270556;XP_006710442 Hs.388746 1698048 RH102555 MGC35130;RP4-636O23.1 OTTHUMP00000010575;OTTHUMP00000010576;ubiquitin carrier protein U;ubiquitin-conjugating enzyme E2 U;ubiquitin-protein ligase U protein-coding ENSG00000177414 HGNC:28559 14599 PROVISIONAL 2794509 UBE2V1P3 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 3 X Y Y p11.2 90021174 90023266 - 3732650 3734820 - 3864609 3866779 - 12815422;9847074 359798 ABBA01069816;AC012078;NG_002821 1772551 D1S57 pseudo HGNC:23983 INFERRED 1315581 UBE3D ubiquitin protein ligase E3D ENCODES a protein that exhibits ligase activity (inferred); INVOLVED IN protein ubiquitination (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; benzo[a]pyrene 6 6 6 q14.1 84035429 84208843 - 83602186 83775545 - 82892467 83065832 - 6480464 12477932;15749827;21139048;24250222 90025 D6RD24;D6RHY9;H0Y359;J3KMY4;Q4G0X5;Q7Z6J8 AB126062;ABBA01040447;ABBA01040448;ABBA01040449;AF026526;AK298205;AL034377;AL137544;AL139333;AL355613;AL357121;AMYH02014006;AMYH02014007;AMYH02014008;AMYH02014009;AMYH02014010;BC036049;BC053645;BC057845;BC071763;BC101512;BC101538;BC143617;CH471051;KF458207;NM_198920;XM_006715596;XM_006715597 AAH36049;AAH53645;AAH57845;AAH71763;AAI01513;AAI01539;BAD01604;BAG60475;CAB70802;EAW48677;EAW48678;EAW48679;EAW48680;EAW48681;NP_944602;Q7Z6J8;XP_006715659;XP_006715660 Hs.148609 1684294;1785960;1854455 D6S1458;RH98725;SHGC-146020 C6orf157;DKFZp434A1520;H10BH;MGC126561;MGC126587;UBE2CBP;YJR141W E3 ubiquitin-protein ligase E3D;OTTHUMP00000016787;OTTHUMP00000016789;OTTHUMP00000220800;OTTHUMP00000220801;UBCH10 binding protein with a hect-like domain;ubcH10-binding protein with a HECT-like domain;ubiquitin-conjugating enzyme E2C binding protein;ubiquitin-conjugating enzyme E2C-binding protein APPROVED protein-coding ENSG00000118420 HGNC:21381 12861 612495 PROVISIONAL 1350282 UBE3AP1 ubiquitin protein ligase E3A pseudogene 1 2 2 2 q11.1 92383491 92384027 - 98021380 98021916 + 97351783 97352319 - 9465301 7338 ABBA01001852;AC092683;AC159540;AF010598;AMYH02004361;NG_002381 pseudo HGNC:12497 INFERRED 1351066 UBE4A ubiquitination factor E4A This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 11 11 11 q23.3 115388170 115427789 + 118230296 118269926 + 118359581 118399211 + 1580863;6480464;6907045 10089879;11802788;12477932;12665801;15019985;15189447;15489334;15611659;16344560;17353931;17553343;18069675;19322201;19690564;21139048;21282530;21890473;21897333;21903422;21906983;21963094;22505724;24457997;24816145;7829101;8590280 9354 B7Z7P0;Q14139 ABBA01039711;ABBA01039712;AF087968;AK296369;AK302328;AK307737;AL713515;AMYH02025638;AP001267;AP001582;AW021567;AW290969;BC010938;BC030973;BC039240;BC052643;BC062695;BC111417;BC112367;BU167020;CH471065;D50916;DB068702;EF445042;NM_001204077;NM_004788 AAH30973;AAH52643;AAH62695;AAI11418;AAI12368;ACA06094;BAA09475;BAG59044;BAH13676;EAW67371;EAW67372;NP_001191006;NP_004779;Q14139 Hs.602967;Hs.75275 1674618;1676814;1686348;1687053;1717985;1725369;1731825;1733316;1737625;1756837;1792620;2119098;2158583;5113992 D11S1374;D11S1933;D11S3222;NIB1965;PMC155158P2;RH119002;RH122609;RH18212;RH25349;RH92387;SHGC-143993;SHGC-87656;STS-AA019500;STS-Z41133 E4;KIAA0126;MGC133315;UBOX2;UFD2 OTTHUMP00000237916;OTTHUMP00000237917;homologous to yeast UFD2;ubiquitin conjugation factor E4 A;ubiquitination factor E4A (UFD2 homolog, yeast);ubiquitination factor E4A (homologous to yeast UFD2) APPROVED protein-coding ENSG00000110344 HGNC:12499 06793 603753 REVIEWED 1606788 UBFD1 ubiquitin family domain containing 1 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; atrazine 16 16 16 p12 22347036 22363883 + 23568856 23585710 + 23557535 23574394 + 6480464 10493829;12477932;14702039;19285159;20639865;21139048;21890473;21906983;21963094;21987572;22863883;22939629;23000965;24811749;24816145 56061 H3BRL3;H3BUM8;O14562 ABBA01017066;ABBA01017067;AC002400;AC008870;AK025656;AK092696;AK096189;AK124139;AMYH02031702;BC001413;BC007880;BC011830;CH471145;NM_019116;XM_006721064;XR_429678 AAC05812;BAG52599;BAG54014;EAW55817;EAW55818;EAW55819;NP_061989;O14562;XP_006721127 Hs.3459 1685996;1722563;1728977;2107747;2138028 G60210;RH65168;RH68198;UBPH__5180;UniSTS:142701 FLJ38870;FLJ42145;UBPH OTTHUMP00000159076;ubiquitin domain-containing protein UBFD1;ubiquitin-binding protein homolog protein-coding ENSG00000103353 HGNC:30565 15606 VALIDATED 1348358 UBE3C ubiquitin protein ligase E3C ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein polyubiquitination; PARTICIPATES IN ubiquitin/proteasome degradation pathway; FOUND IN intracellular (inferred); proteasome complex (inferred); INTERACTS WITH 2-methylcholine; acetylsalicylic acid; atrazine 7 7 7 q36.3 151358691 151489117 + 156931655 157062066 + 157138961 157269372 + 1580863;6480464;6907045 11278995;12477932;12690205;12692129;12853948;15489334;16196087;16344560;16601690;17314511;17323924;19193609;19197348;19322201;19846067;19913121;20628086;20934631;20972266;21139048;21167755;21832049;21881582;21890473;21906983;21963094;21988832;22145905;22496338;22863883;22939629;22990118;24158444;24425307;24811749;24816145;7584026;7584028;9575161 9690 H7C0Y1;Q15386 AA596042;ABBA01032363;ABBA01032364;ABBA01032365;ABBA01032366;AC004898;AC004975;AK127280;AK295138;AMYH02017156;AMYH02017157;AMYH02017158;BC014029;BC026241;CD366848;CH236954;CH471149;D13635;DB085748;DB454915;NM_014671;XM_005249564;XM_005249565 AAD51453;AAH14029;AAH26241;BAA02799;BAG58161;EAL23922;EAX04567;EAX04568;EAX04569;NP_055486;Q15386;XP_005249621;XP_005249622 Hs.118351 1674777;1684220;1685906;1689332;1693532;1786324;1786326;1789496;1789508;2107743;2126194;2138405;2145619;2161096;2178710;5015961;5037552 D15S1477;D7S2380;D7S2872;D7S3165;D7S3173;D8S2279;RH25250;RH47207;RH81080;RH92834;RH98878;SHGC-155117;SHGC-155118;SHGC-58169;SHGC-58446;STS-D13635;UBE3C__5178 HECTH2;KIAA0010;KIAA10 OTTHUMP00000211811;ubiquitin-protein isopeptide ligase (E3);ubiquitin-protein ligase E3C protein-coding ENSG00000009335 HGNC:16803 15604 614454 VALIDATED 1603400 UBIAD1 UbiA prenyltransferase domain containing 1 This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008] 1 1 1 p36.22 10445515 10460752 + 11333255 11348491 + 11273164 11296314 + 6480464;7240710;8554872;8699517 11314041;12477932;12497587;15489334;15782423;16303743;16710414;17668063;17960116;17962451;18176953;19394700;19429578;19649163;20489584;20505825;20953171;21740188;21890473;22065921;23169578;23374346;23533172;23564352;23759948;23977195;24608252;8125298;8894705 29914 Q9Y5Z9;R4GN21;R4GNE3 AA505091;ABBA01003045;AF117064;AK074890;AK222808;AL031291;AL049653;AMYH02000288;BC004468;BT006832;BX507524;CH471130;CQ784038;NG_009443;NM_013319;XM_006710590 AAD27581;AAH04468;AAP35478;BAD96528;BAG52025;CAF86981;EAW71686;NP_037451;Q9Y5Z9;XP_006710653 Hs.522933 1298152;1336018;1336309;1338668;2109935;2163939;2185768 D1S214;D1S228;D1S2663;D1S489;SHGC-74208;SHGC-74218;TERE1_9605 RP4-796F18.1;SCCD;TERE1 OTTHUMP00000002069;transitional epithelia response protein;transitional epithelial response protein 1;ubiA prenyltransferase domain-containing protein 1 APPROVED protein-coding ENSG00000120942 HGNC:30791 15487 121800;611632 REVIEWED 1343282 UBL2 ubiquitin-like 2 9671742 8457 HGNC:12503 1313456 UBL3 ubiquitin-like 3 FOUND IN extracellular vesicular exosome; intracellular; INTERACTS WITH aflatoxin B1; cobalt dichloride; copper(2+) sulfate 13 13 13 q12-q13 11408157 11494450 - 30338545 30424820 - 29764408 29850683 - 1580863;6480464 10375635;11076863;11230166;11256614;12477932;14702039;15057823;15489334;15489336;16344560;16381901;16831869;19056867;19322201;20379614;20460270;21139048;21832049;23738518 5412 O95164 ABBA01035708;AF044221;AK056580;AK307361;AK309253;AK311846;AL080177;AL138684;AL139188;AL158193;AMYH02027782;AMYH02027783;AMYH02027784;BC044582;BC059385;BM453277;CH471075;CR533458;DA246318;DA400786;DB495511;NM_007106 AAD02323;AAH44582;AAH59385;BAG34788;BAG51754;CAB45762;CAG38489;CAL38126;CAL38242;EAX08446;EAX08447;EAX08448;NP_009037;O95164 Hs.145575 1657119;1685455;1739199;1739629;1855346;2136193;2138240;2174159 A008Y32;D13S1133;D13S1214E;D13S830E;RH80533;SHGC-2665;STS-R68992;WI-16690 DKFZp434K151;FLJ32018;HCG-1;MUB;PNSC1;hsMUB OTTHUMP00000018193;membrane-anchored ubiquitin-fold protein;protein HCG-1;ubiquitin-like protein 3 protein-coding ENSG00000122042 HGNC:12504 05275 604711 VALIDATED 1348580 UBL4A ubiquitin-like 4A ENCODES a protein that exhibits small conjugating protein ligase activity (inferred); INVOLVED IN tail-anchored membrane protein insertion into ER membrane; ASSOCIATED WITH Melanoma (inferred); FOUND IN BAT3 complex; cytosol; INTERACTS WITH 17beta-estradiol; bathocuproine disulfonic acid; diazinon X X X q28 153873107 153875983 - 153712056 153714932 - 154483717 154486670 - 1580863;6480464;8554872 12477932;12938929;15489334;16196087;16344560;16872915;16916647;17081983;17207965;17558393;17643375;18029348;19615732;20676083;21139048;21636303;21832049;21853274;21890473;21963094;21987572;22053931;22190034;22190037;22912744;22939629;23000965;23142665;23246001;23349634;23533635;23602568;23665563;23723067;24811749;24816145;24885147;25036637;2829204;6533418;8733135;8889548 8266 F8WB70;F8WCT8;P11441;Q5HY81 ABBA01045274;AC244090;AK000405;AK293227;BC020254;BC043346;BC053589;BM711450;BX664739;CH471172;CK826435;DA012854;DR003955;J03589;L44140;M35604;NM_014235 AAA36790;AAA92650;AAH43346;AAH53589;ADQ33007;BAG56766;EAW72700;NP_055050;P11441 Hs.76480 1802242;1803824;1816544;1817986;1824714;2037484;2037490;2037492;2037494;2037496;2037498;2037500;2037502;2037504;2037506;2037508;2037510;2037512;2037514;2037516;2037518;2037520;2037522;2037524;2037526;2037528;2037530;2037532;2037534;2102592;2102594;2110013;2135386;2144485 ECD02004;ECD02822;ECD09314;ECD10048;ECD13455;REN89753;REN89756;REN89757;REN89758;REN89759;REN89760;REN89761;REN89762;REN89763;REN89764;REN89765;REN89766;REN89767;REN89768;REN89769;REN89770;REN89771;REN89772;REN89773;REN89774;REN89775;REN89776;REN89777;REN89778;STS-J03589;UBL4_8788;WI-12102;stSG604086;stSG604087 DX254E;DXS254E;G6PD;GDX;GET5;MDY2;TMA24;UBL4 OTTHUMP00000015407;OTTHUMP00000015408;ubiquitin-like 4;ubiquitin-like protein 4A;ubiquitin-like protein GDX protein-coding ENSG00000102178 HGNC:12505 02417 312070 VALIDATED 1602973 UBL4B ubiquitin-like 4B FOUND IN cytoplasm (inferred); INTERACTS WITH N-methyl-4-phenylpyridinium (ortholog) 1 1 1 p13.3 108902036 108903543 + 110655062 110656569 + 110112440 110113947 + 6480464 12477932;14702039;15489334;16872915;17207965;22589738 164153 Q8N7F7 AA608970;ABBA01068386;AK098556;AL160006;AMYH02001721;BC058929;CH471122;CS072275;NM_203412 AAH58929;ADQ32549;BAC05331;CAI93413;EAW56431;NP_981957;Q8N7F7 Hs.374027 FLJ25690 OTTHUMP00000234691;ubiquitin-like protein 4B protein-coding ENSG00000186150 HGNC:32309 17314 611127 VALIDATED 1351956 UBL5 ubiquitin-like 5 This gene encodes a member of a group of proteins similar to ubiquitin. The encoded protein is not thought to degrade proteins like ubiquitin but to affect their function through being bound to target proteins by an isopeptide bond. The gene product has been studied as a link to predisposition to obesity based on its expression in Psammomys obesus, the fat sand rat, which is an animal model for obesity studies. Variation in this gene was found to be significantly associated with some metabolic traits (PMID: 15331561) but not associated with childhood obesity (PMID: 19189687). Pseudogenes of this gene are located on chromosomes 3, 5 and 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013] 19 19 19 p13.3 9833993 9836222 + 9938556 9940797 + 9827880 9830121 + 1580863;6480464 11161819;11752456;12477932;12705895;12824502;14702039;15331561;15342556;15489334;15620657;17036923;18191906;19058789;19189687;21139048;21614000;21890473;21906983;22365833;22505724;22623428;22939629;23000965;23400010;23726919;24457600;24872507;25015289 59286 K7EQ43;Q9BZL1 ABBA01029962;AC008752;AF313915;AK128885;AK309258;AK311889;AMYH02035476;AV682189;BC007053;BC110839;BP213482;BT007355;CA418471;CH471106;NM_001048241;NM_024292 AAH07053;AAI10840;AAK14178;AAP36019;BAG34830;EAW84054;EAW84055;EAW84056;NP_001041706;NP_077268;Q9BZL1 Hs.534477 1679007 RH93321 FLJ46917;HUB1;MGC131795 beacon;ubiquitin-like protein 5 APPROVED protein-coding ENSG00000198258 HGNC:13736 06028 606849 VALIDATED 7175228 UBL5P1 ubiquitin-like 5 pseudogene 1 5 5 5 p13.3 29482291 29482551 + 29600773 29600962 + 29600666 29600855 + 100130803 ABBA01066696;AC114323;AMYH02011095;CH471118;NG_027666 EAX10758 pseudo HGNC:44639 INFERRED 7175178 UBL5P2 ubiquitin-like 5 pseudogene 2 17 17 17 q11.2 27465777 27466064 - 30554796 30555205 - 32227777 32228186 - 100287215 ABBA01000709;AC026620;AMYH02033314;NG_027668 1679007 RH93321 pseudo HGNC:44640 INFERRED 7175179 UBL5P3 ubiquitin-like 5 pseudogene 3 3 3 3 p14.2 63205772 63206002 - 63188797 63189221 - 63203121 63203545 - 100129031 ABBA01024325;AC099545;AMYH02006943;NG_027667 pseudo HGNC:44641 INFERRED 5135107 UBFD1P1 ubiquitin family domain containing 1 pseudogene 1 3 3 3 q11.2 96544619 96545499 + 98152808 98153688 + 98433964 98434844 + 100130484 ABBA01026929;AC108730;AMYH02007287;NG_022258 pseudo HGNC:42389 INFERRED 1344940 UBL6 ubiquitin-like 6 170557 AC005220 HGNC:15953 1312355 UBE4B ubiquitination factor E4B The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.3 9204450 9352734 + 10093041 10241297 + 10032983 10181239 + 1580863;6480464;6907045;8554872 10089879;10980605;11802788;12477932;12504083;12700669;14702039;14749733;15189447;15302935;15466860;15489334;16170377;16344560;16710414;16870146;17081983;17955473;18022694;18234089;18418053;18654987;18775313;19175675;19322201;19805293;19889839;20017557;20414249;20676096;20696396;21139048;21282470;21317885;21890473;21906983;21963094;21987572;22045814;22124266;22174917;22505724;22863883;22939629;22990745;23000965;23550736;24250222;24344129;24587254;9653645;9734811 10277 B1AQ61;K7EP75;K7ERA7;O95155 AB014584;AB028839;ABBA01035584;ABBA01035585;ABBA01035586;ABBA01035587;ABBA01035588;AF043117;AF091093;AF331520;AK023654;AK292444;AK304484;AL096841;AL590639;AMYH02000260;AMYH02000261;BC047890;BC093696;BC143458;BC143460;BQ001243;CH471130;DA476510;JF289274;NM_001105562;NM_006048;XM_005263422 AAC72962;AAD02233;AAH93696;AAK69622;AEK06331;BAA31659;BAB40446;BAF85133;BAG65294;EAW71639;EAW71640;NP_001099032;NP_006039;O95155;XP_005263479 Hs.593974 1776806;1854392;1854394;2110789;2155241;2168221;2184955;5015619;5021872;5022200;5022578;5022651;5037552 A006H31;AL009691;AL009864;D11S2921;D11S3114;D1S1423;D8S2279;G20815;L18426;SHGC-30343;SHGC-74188;UBE4B_9080;sY3084 E4;HDNB1;KIAA0684;UBOX3;UFD2;UFD2A OTTHUMP00000001726;OTTHUMP00000001727;UFD2A-III/UBE4B-III splice isoform;homologous to yeast UFD2;homozygously deleted in neuroblastoma 1;homozygously deleted in neuroblastoma-1;ubiquitin conjugation factor E4 B;ubiquitin fusion degradation protein 2;ubiquitin-fusion degradation protein 2;ubiquitination factor E4B (UFD2 homolog, yeast);ubiquitination factor E4B (homologous to yeast UFD2) APPROVED protein-coding ENSG00000130939 HGNC:12500 11659 613565 REVIEWED 1602843 UBL7 ubiquitin-like 7 INTERACTS WITH 17beta-estradiol; 2-methylcholine; hydrogen peroxide 15 15 15 q24.1 51685546 51700840 - 74738318 74753545 - 74445977 74461188 - 6480464 12477932;12644319;14667819;15342556;15489334;16189514;16731964;17081983;17207965;19285159;21139048;21890473;21906983;21963094;21988832;22505724;22589738;22863883;22939629;23000965 84993 D3DW56;H3BSE0;H3BSQ2;H3BUV9;H3BV23;Q96S82 ABBA01060488;AC012435;AMYH02030789;AY037166;BC007913;BC030055;BC033919;BG704085;BI551787;BI552240;BP192909;CH471136;HY135530;NM_001286739;NM_001286740;NM_001286741;NM_001286742;NM_032907;NM_201265 AAH07913;AAH30055;AAH33919;AAK67643;ADQ32712;EAW99331;EAW99332;EAW99333;EAW99334;EAW99335;EAW99336;EAW99337;EAW99338;EAW99339;NP_001273668;NP_001273669;NP_001273670;NP_001273671;NP_116296;NP_957717;Q96S82 Hs.334713 2174869;5120966 G35280;UniSTS:62995 BMSC-UbP;MGC14421;TCBA1 OTTHUMP00000176873;OTTHUMP00000176874;bone marrow stromal cell ubiquitin-like protein;bone marrow stromal cell-derived ubiquitin-like;ubiquitin-like 7 (bone marrow stromal cell-derived);ubiquitin-like protein 7;ubiquitin-like protein SB132 APPROVED protein-coding ENSG00000138629 HGNC:28221 16556 609748 VALIDATED 7244536 UBL7-AS1 UBL7 antisense RNA 1 (head to head) 15 15 15 q24.1 51700917 51720921 + 74753606 74773633 + 74489533 74491489 + 12477932;12951057;16344560 440288 ABBA01060488;ABBA01060489;AC012435;AC100835;AF085896;AMYH02030789;AW081069;AW968938;BC014373;BC121819;BP431899;BX104607;DB092848;HG507245;HG507246;HG507248;HG507250;NR_038448;NR_038449;NR_120377;XR_424640;XR_429564;XR_433130 Hs.611046;Hs.707910 2157672 RH68644 RP11-10O17.2 ncrna ENSG00000247240 HGNC:48614 VALIDATED 1605293 UBLCP1 ubiquitin-like domain containing CTD phosphatase 1 ENCODES a protein that exhibits phosphoprotein phosphatase activity (inferred); INVOLVED IN dephosphorylation (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; clorgyline 5 5 5 q33.3 154720940 154743899 + 158690089 158713048 + 159263081 159286040 + 6480464 12477932;14702039;15489334;15883030;16189514;16344560;18029348;21139048;21890473;21906983;21949367;22939629;23000965;23667555;24811749;24816145;8889548 134510 Q8WVY7 ABBA01044240;ABBA01044241;AC011418;AK057996;AMYH02012586;AY444562;BC013425;BM676716;BM677370;CH471062;DA930581;NM_145049 AAH13425;AAS68538;BAB71628;EAW61577;EAW61578;NP_659486;Q8WVY7 Hs.591733 1677106;1686020;2110555;2174525 MGC10067__7655;RH36361;RH41101;RH93697 CPUB1;FLJ25267;MGC10067 CTD phosphatase-like with ubiquitin domain 1;CTD-like phosphatase domain-containing protein;OTTHUMP00000160818;nuclear proteasome inhibitor UBLCP1;ubiquitin-like domain-containing CTD phosphatase 1 protein-coding ENSG00000164332 HGNC:28110 08318 609867 VALIDATED 1314934 UBE3A ubiquitin protein ligase E3A This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 3744415 3845932 - 25582394 25684190 - 25337245 25439043 - 1358469;1358255;1580863;1358256;6480464;6907045;7240710;8554872;8699517 10558980;11748306;8988171 10066826;10373495;10449731;10508479;10983987;11027293;11149944;11170455;11431533;11460706;11486026;12075004;12095913;12207887;12477932;12481031;12609982;12620801;12725589;12890688;14702039;14981718;15001357;15054837;15175323;15231748;15331633;15615769;15655249;15731267;15862967;16051665;16254014;16314411;16344560;16482544;16493710;16546135;16708385;16713569;16905559;16951183;17085449;17108031;17110338;17131388;17166906;17323924;17433363;17603074;17657785;17765640;17942561;17962381;18186074;18193166;18201976;18256157;18298802;18361419;18487518;18612801;18775313;19013454;19058789;19086053;19194825;19204938;19213023;19233847;19240029;19276448;19325566;19364824;19557195;19563863;19591933;19700180;19723394;19899154;20034088;20039703;20157568;20167600;20301323;20351251;20589759;20609483;20635355;20639865;20826237;20829392;20930542;20956852;20972266;21029865;21033666;21044367;21139048;21228227;21348951;21362313;21493713;21530567;21532592;21553290;21633703;21765936;21768723;21832049;21890473;21900206;21906983;21947926;21963094;21987572;21988832;22053931;22065487;22118674;22341959;22350887;22350919;22496338;22505724;22560727;22589186;22645313;22689861;22787151;22797925;22863883;22865929;22939629;22986523;23000965;23040663;23251661;23256887;23283345;23393263;23416059;23439649;23598402;23671107;23827681;23935506;24273172;24337433;24722188;24728990;24811749;24816145;7708685;8090726;8221889;8380895;8576257;8988172;9143503;9153201;9182527;9288087;9288088;9369221;9465301;9575161;9585605;9688277;9792887;9852095;9891052;9990509 7337 Q05086;Q9BUI6;Q9H2G0;S4R306 AB194232;ABBA01048691;AC100774;AC124997;AF002224;AF002225;AF016708;AF273050;AI378869;AJ001107;AJ001108;AJ001109;AJ001110;AJ001111;AJ001112;AJ001113;AK056239;AK130491;AK291405;AK292514;AL049363;AL831842;AMYH02030095;AMYH02030096;AMYH02030097;BC002582;BC009271;BE349076;CH471151;DA415876;L07557;NG_002690;NG_009268;NM_000462;NM_130838;NM_130839;U84404;X98021;X98031;X98032;X98033;X98037;XM_005268267;XM_005268268;XM_005268269;XM_005268270;XM_005268271;XM_006720673;XM_006720674;XM_006720675;XM_006720676 AAA35542;AAB49301;AAB69154;AAG34910;AAH02582;AAH09271;ADZ16032;BAD69553;BAD69554;BAF84094;BAF85203;CAA04534;CAA04535;CAA04536;CAA04537;CAA04538;CAA04539;CAA04540;CAA66653;CAA66654;CAA66655;CAA66656;EAW57642;EAW57643;EAW57644;EAW57645;NP_000453;NP_570853;NP_570854;Q05086;XP_005268324;XP_005268325;XP_005268326;XP_005268327;XP_005268328;XP_006720736;XP_006720737;XP_006720738;XP_006720739 Hs.598862 1341649;1644179;1680655;1697786;1729594;1736488;1736494;1767677;1767679;1789298;1798304;1850126;2164323;2176155;2183559;5022580;5109613;5123020;5492176;5492178;7187421 D15S10;D15S122;D15S698E;D15S701E;D15S837;D21S1716E;D21S1734E;G67875;RH102417;RH11332;RH17601;RH45096;RH78150;RH79621;SHGC-52105;UBE3A_1455;Ube3a;WI-11918;WI-13724 ANCR;AS;E6-AP;EPVE6AP;FLJ26981;HPVE6A CTCL tumor antigen se37-2;E6AP ubiquitin-protein ligase;OTTHUMP00000246395;human papilloma virus E6-associated protein;human papillomavirus E6-associated protein;oncogenic protein-associated protein E6-AP;renal carcinoma antigen NY-REN-54;ubiquitin-protein ligase E3A APPROVED protein-coding ENSG00000114062 HGNC:12496 03375 105830;601623 REVIEWED 1323115 UBN1 ubinuclein 1 ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN DNA replication-independent nucleosome assembly; negative regulation of phosphatase activity; ASSOCIATED WITH Melanoma (inferred); FOUND IN tight junction (ortholog); INTERACTS WITH 2-methylcholine; aflatoxin B1; Aroclor 1254 16 16 16 p13.3 5106685 5141135 + 4896666 4932363 + 4846665 4882401 + 1580863;6480464;8554872 10725330;14702039;14718166;15146197;15302935;16344560;17081983;18823282;19029251;19389623;21084479;21807893;22195966;22245583;22401310;22939629;8889548 29855 K7EJT1;K7EQR1;K7ER78;K7ESM4;Q9NPG3 AA742357;ABBA01026788;ABBA01026789;AC020663;AC027687;AF108459;AF108460;AF108461;AK022652;AK056282;AK300131;AMYH02031329;AU120544;AW385352;BC013750;BG822152;BQ009566;BQ186272;CB242197;CH471112;CN428658;CV574190;CV574862;NM_001079514;NM_001288656;U19346;XM_005255277;XM_005255278;XM_005255279;XM_005255280;XM_005255283 AAA64188;AAF31755;AAF31756;AAF34869;AAI56177;AAI57078;BAH13219;EAW85249;EAW85250;NP_001072982;NP_001275585;Q9NPG3;XP_005255334;XP_005255335;XP_005255336;XP_005255337;XP_005255340 Hs.440219 1665412;1679844;1689877;1690614;1738859;1847348;2107745;2154124 D16S2903;D16S2965;D16S3214;RH15620;RH65233;RH65400;RH92549;UBN1__5179 VT;VT4 HIRA-binding protein;OTTHUMP00000159925;OTTHUMP00000159926;ubinuclein-1;ubiquitously expressed nuclear protein protein-coding ENSG00000118900 HGNC:12506 11660 609771 VALIDATED 2302451 UBN2 ubinuclein 2 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper atom; copper(0) 7 7 7 q34 133654387 133731150 + 138915978 138992982 + 139231235 139308236 + 6480464;8554872 12477932;12690205;18029348;19029251;19471022;21139048;21693764;24250222;8889548 254048 C9J6Y5;H7C4P8;Q6ZU65 AB107352;ABBA01001186;ABBA01001187;AC009220;AI239540;AI803206;AK098644;AK125956;AMYH02016884;BC037413;BC045656;BC065034;BC108249;BM673408;BX640752;CH236950;NM_173569;XM_005250249;XM_006715916;XR_428170;XR_428171 AAH65034;AAI08250;BAC05362;BAC67657;BAC86361;EAL24038;NP_775840;Q6ZU65;XP_005250306;XP_006715979 Hs.153458;Hs.511486 1337513;1671627;1856374;1857318;1857691;2158537;2158704;5015961;5016478;5020948;5021872;5037552;7186826 D15S1477;D7S2355;D7S2468;D8S2279;G35510;GDB:434012;RH11912;RH16552;RH46101;SHGC-33397;WI-15491;sY3084 FLJ25778 OTTHUMP00000212305;ubinuclein-2 protein-coding ENSG00000157741 HGNC:21931 613841 VALIDATED 1605087 UBOX5 U-box domain containing 5 This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 20 20 20 p13 3150201 3202498 - 3088219 3140556 - 3107573 3159910 - 6480464;6907045;8554872 10048485;10431818;11274149;11780052;12477932;14702039;15189447;15489334;16189514;16344560;19549727;19953087;20979629;21906983;22493164;23105109;8125298 22888 A2A2Q6;O94941 AB020667;ABBA01053811;ABBA01053812;AK022444;AK222570;AK222876;AL121891;AMYH02036593;AMYH02036594;BC000515;BC046122;BC064544;BM992259;BX475562;CH471133;CR457089;DA101925;NM_001267584;NM_014948;NM_199415 AAH00515;AAH46122;ABM82941;ABM86131;BAA74883;BAD96290;BAD96596;BAG51073;CAG33370;EAX10549;EAX10550;EAX10551;NP_001254513;NP_055763;NP_955447;O94941 Hs.654646 1760819;1776427;2108625;2114020;2115829;2128851;2185740;5015619;5015861;5015961;5037552;5109281;7185938 AB062957;AFMa049yd1;D10S16;D11S3114;D15S1477;D1S1425;D20S1109;D20S1116;D8S2279;RH15911;SHGC-144452;UBCE7IP5_9280 KIAA0860;RNF37;UBCE7IP5;UIP5 OTTHUMP00000030085;OTTHUMP00000030086;RING finger protein 37;U-box domain-containing protein 5;ubiquitin conjugating enzyme 7 interacting protein 5;ubiquitin-conjugating enzyme 7-interacting protein 5 APPROVED protein-coding ENSG00000185019 HGNC:17777 15605 REVIEWED 6767192 UBOX5-AS1 UBOX5 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 20 20 3087557 3131513 + 3106911 3150867 + 8554872 14702039 100134015 ABBA01053811;ABBA01053812;AK097516;AL121891;AMYH02036593;AMYH02036594;HG511138;NR_038395 Hs.129448 1852837;2115829;2185740 AFMa049yd1;RH15911;Z94563 RP5-1187M17.7 APPROVED ncrna ENSG00000235958 HGNC:44111 VALIDATED 1345367 UBP1 upstream binding protein 1 (LBP-1a) ENCODES a protein that exhibits DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); transcription corepressor activity (inferred); INVOLVED IN angiogenesis (inferred); negative regulation of transcription, DNA-templated (inferred); regulation of transcription from RNA polymerase II promoter (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; diarsenic trioxide 3 3 3 p22.3 33373357 33425407 - 33429828 33481897 - 33388336 33440405 - 1580863;6480464 10644752;12477932;14702039;15207707;15471945;15489334;16344560;18004979;19322201;19471022;19505873;19662162;19751393;2006421;20211142;21956701;21988832;22939629;7836461;8114710 7342 A8KAN5;C9JWL3;F8WEP8;Q9NZI7 ABBA01024904;ABBA01024905;ABBA01024906;AC093114;AC122176;AF198487;AK023274;AK023278;AK023322;AK027177;AK293100;AK309430;AL133032;AL831847;AMYH02006520;BC047235;CH471055;CR749798;DB131031;NM_001128160;NM_001128161;NM_014517;XM_006713322;XR_427288;XR_427289 AAF32274;AAH47235;ABZ92436;BAB14501;BAF85789;BAG51180;CAH18658;EAW64454;EAW64455;EAW64456;EAW64457;NP_001121632;NP_001121633;NP_055332;Q9NZI7;XP_006713385 Hs.729120 1665229;1765701;1765859;2115429;5119100 D3S3159;SHGC-149141;SHGC-149281;SHGC-76821;STS-N49886 DKFZp686L1745;LBP-1B;LBP-1a;LBP1A;LBP1B OTTHUMP00000161314;OTTHUMP00000209005;OTTHUMP00000209006;transcription factor LBP-1;upstream-binding protein 1 protein-coding ENSG00000153560 HGNC:12507 10291 609784 VALIDATED 1345154 UBQLN1P1 ubiquilin 1 pseudogene 1 6 6 6 p22.1 31924566 31930080 - 30326371 30331888 - 30358594 30364111 - 387117 AB014085;ABBA01038041;AL662795;AL662831;AL773535;AMYH02013430;BX294158;BX927214;CR759281;CR759890;CR759928;NG_011407 5018896 C3_2_15 UBQLN1P APPROVED pseudo HGNC:21633 INFERRED 1344129 UBQLN4P1 ubiquilin 4 pseudogene 1 3 3 3 q24 147113497 147115727 - 148701962 148705477 - 148984175 148987690 - 285329 ABBA01058949;AC021059;AMYH02007879;NG_005662 1656103;1680817 RH12747;RH41451 C3orf12;UBQLN4P APPROVED pseudo HGNC:31133 INFERRED 1312638 UBQLN3 ubiquilin 3 Summary: This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis, and proposed to regulate cell-cycle progression during spermatogenesis. [provided by RefSeq, Jul 2008] 11 11 11 p15 5647110 5649733 - 5528530 5531153 - 5507300 5509923 - 1580863;6480464;6907045;8554872 10831842;11121057;12477932;15489334;8125298 50613 C9IYQ4;Q9H347 ABBA01028652;AC087380;AF137396;AF230481;AMYH02024256;BC036743;CH471064;HC007374;HC044809;NM_017481 AAF67143;AAG41675;AAH36743;ABW03695;CBH19492;CBH30734;EAW68790;NP_059509;Q9H347 Hs.189184 1802916;1803710;1805274;1805590;2054608;2054610;2054612;2054614;2054616;2054618;2054620;2054622;2054624;2054626;2054628;2054630;2054632;2054634;2054636;2054638;2054640;2054642;2054644;2054646;2054648;2105850;2105852;2107749 ECD02347;ECD02761;ECD03583;ECD03745;REN98466;REN98467;REN98468;REN98469;REN98470;REN98471;REN98472;REN98473;REN98474;REN98475;REN98476;REN98477;REN98478;REN98479;REN98480;REN98481;REN98482;REN98483;REN98484;REN98485;REN98486;UBQLN3__5181;stSG611020;stSG611021 TUP-1 OTTHUMP00000069805;OTTHUMP00000069806;ubiquilin-3 APPROVED protein-coding ENSG00000175520 HGNC:12510 05684 605473 REVIEWED 1350173 UBQLN2 ubiquilin 2 This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. [provided by RefSeq, Oct 2009] X X X p11.21 60422310 60425727 + 56590025 56593443 + 56563593 56567010 + 5147832;6480464;6907045;8699517;8554872;7240710 21857683 10675567;10894951;10983987;11717310;11827521;12200120;12477932;12972570;14702039;15231748;15772651;15975090;16196087;16713569;16813565;17098253;17558393;18029348;18199683;18307982;18535780;18976975;19148225;19322201;19815544;20301623;21078624;21139048;21378313;21890473;21906983;21963094;21987572;21988832;22053931;22119785;22169395;22426854;22560112;22676852;22717235;22729385;22863883;22892309;22939629;23000965;23138764;23312802;23541532;23582661;23774650;23940030;23944734;23973441;24085347;24086754;24215460;24654937;24771548;24811749;9853615 29978 B4DZF1;Q9UHD9 AB015344;ABBA01069410;ABBA01069411;AF189009;AF293385;AK001029;AK297252;AK302885;AL354793;AL442081;AMYH02039525;AU310783;BC069237;BI602998;CH471154;NG_016249;NM_013444 AAF17237;AAG02474;AAH69237;BAA34801;BAG59731;BAG64063;CAC09446;EAW93233;NP_038472;Q9UHD9 Hs.179309 1773021;1849815;2110015;2191085 A004O20;MARC_14449-14450:1010425235:1;RH36076;UBQLN2_9620 ALS15;CHAP1;CHAP1/DSK2;Dsk2;FLJ10167;FLJ56541;HRIHFB2157;LIC-2;N4BP4;PLIC-2;PLIC2;RIHFB2157 DSK2 homolog;Nedd4 binding protein 4;OTTHUMP00000023408;hPLIC-2;protein linking IAP with cytoskeleton 2;ubiquilin-2;ubiquitin-like product Chap1/Dsk2 APPROVED protein-coding HGNC:12509 02224 300264;300857 REVIEWED 731465 UBQLN1 ubiquilin 1 This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q22 56844906 56893172 - 86274878 86323168 - 83659963 83708253 - 6480464;6907045 10390159;10549293;10807547;10983987;11076969;11230166;11256614;11528422;11827521;11853878;12095988;12477932;12634373;14662753;14702039;15004330;15147878;15231748;15489334;15492808;15745979;15975090;16007098;16091357;16159959;16189514;16196087;16214290;16278862;16302009;16344560;16461334;16504527;16526030;16712842;16713569;16725228;16799550;16813565;16815845;16862145;16945923;17082820;17098253;17323924;17558393;17603015;17614368;17709205;17947293;18199683;18241885;18307982;18340109;18467327;18535780;18781797;18953672;18985028;19112176;19148225;19815544;19822669;20059542;20350585;20379614;20529957;20693704;20972266;21139048;21143716;21695056;21852239;21890473;21906983;21963094;21987572;21988832;22053931;22134777;22233804;22272618;22428841;22505724;22766032;22863883;22939629;23000965;23246001;23307288;23383273;23459205;23649778;23663107;23774650;23869942;23940030;24475300;24654937;24722188;24811749;9268694;9303440 29979 H0YDS0;H0YEZ9;Q9UMX0 AB035275;AB209468;ABBA01034003;AF176069;AF293384;AK027556;AK027576;AK074535;AL136643;AL354920;AMYH02021117;AMYH02021118;BC010066;BC039294;CH471089;DA317805;NG_011519;NM_013438;NM_053067;XM_005251948 AAD49751;AAG02473;AAH10066;AAH39294;BAB20436;BAD92705;BAG51344;BAG51350;CAB66578;EAW62658;EAW62659;EAW62660;EAW62661;EAW62662;EAW62663;EAW62664;NP_038466;NP_444295;Q9UMX0;XP_005252005 Hs.9589 1685251;2116732;2149875 RH91462;RH94362;WI-21584 DA41;DSK2;FLJ90054;PLIC-1;UBQN;XDRP1 OTTHUMP00000021544;OTTHUMP00000021545;hPLIC-1;protein linking IAP with cytoskeleton 1;ubiquilin-1 APPROVED protein-coding ENSG00000135018 HGNC:12508 05440 605046 REVIEWED 4107116 UBQLN4P2 ubiquilin 4 pseudogene 2 2 2 2 q23.3 147341807 147349719 + 153733325 153735045 + 152876811 152878531 + 100131393 ABBA01004797;AC009969;AMYH02004999;NG_028784 pseudo HGNC:38662 INFERRED 1344813 UBQLN4 ubiquilin 4 ENCODES a protein that exhibits identical protein binding; polyubiquitin binding; INVOLVED IN regulation of proteasomal ubiquitin-dependent protein catabolic process; PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; cytoplasm; cytosolic proteasome complex; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; formaldehyde 1 1 1 q21 129078055 129096477 - 156002945 156023613 - 156033154 156053783 - 6480464;6907045;8554872 10575211;11001934;11162551;12477932;15231748;15280365;15489334;16169070;16713569;17290220;17558393;18079109;18187620;18307982;20702650;20940304;21139048;21890473;21900206;21906983;21963094;21988832;22939629;23000965;23128233;23459205;24256120;24811749 56893 B4DZF6;Q9H8R7;Q9NRR5 AB209566;ABBA01016674;ABBA01016675;AF113544;AF188240;AK098368;AK302895;AK314413;AL355388;AMYH02001959;AMYH02001960;BC006410;BC018403;BC063841;CH471121;NM_020131;XM_005245347;XM_005245348 AAF19084;AAF80171;AAH06410;AAH18403;AAH63841;BAD92803;BAG37034;BAG64068;EAW53005;EAW53006;EAW53007;EAW53008;EAW53009;NP_064516;Q9NRR5;XP_005245404;XP_005245405 Hs.283739 1656103;1680817;1773203 RH12747;RH41451;RH70381 A1U;A1Up;C1orf6;CIP75;UBIN OTTHUMP00000018848;ataxin-1 interacting ubiquitin-like protein;ataxin-1 ubiquitin-like interacting protein;ataxin-1 ubiquitin-like-interacting protein A1U;connexin43-interacting protein of 75 kDa;ubiquilin-4 protein-coding ENSG00000160803 HGNC:1237 05670 605440 PROVISIONAL 1605287 UBQLNL ubiquilin-like PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; silicon dioxide; valproic acid 11 11 11 p15.4 5654203 5656536 - 5535623 5537956 - 5514393 5516726 - 6480464;6907045;8554872 12477932;14702039;20379614 143630 Q8IYU4 ABBA01028652;AC087380;AK057255;AMYH02024256;BC012183;BC034977;CH471064;NM_145053 AAH12183;AAH34977;BAB71398;EAW68789;NP_659490;Q8IYU4 Hs.10688 1770904;1798644;1798744;1799616;1799978;2054670;2054672;2054674;2054676;2054678;2054680;2054682;2054684;2054686;2054688;2054690;2054692;2054694;2054696;2054698;2054700;2054702;2054704;2054706;2054708;2105858;2105860;2105862;2158490 D11S4344;D11S4356;ECD00161;ECD00212;ECD00662;ECD00843;REN98497;REN98498;REN98499;REN98500;REN98501;REN98502;REN98503;REN98504;REN98505;REN98506;REN98507;REN98508;REN98509;REN98510;REN98511;REN98512;REN98513;REN98514;REN98515;REN98516;stSG611024;stSG611025;stSG611026 MGC20470;MGC26958 OTTHUMP00000069822;ubiquilin-like protein protein-coding ENSG00000175518 HGNC:28294 14472 VALIDATED 1347280 UBR1 ubiquitin protein ligase E3 component n-recognin 1 The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008] 15 15 15 q13 20005916 20169100 - 43235095 43398286 - 42942897 43106088 - 1580863;6480464;7240710;8554872;8699517 11278995;12434312;12477932;12524449;14702039;15302935;15317757;15489334;15548684;16055722;16169070;16311597;17018293;17222803;17360488;17462600;17550899;17569795;17643375;17855541;18089810;18366806;18775313;19006206;19058315;20556423;21041297;21139048;21145461;21282530;21711208;21816346;21890473;21900206;21903422;21906983;21931868;21963094;21987572;22505724;22939629;24624459;24811749;7633422;8505328;8901547;9653112 197131 H3BNQ6;H3BQF8;H3BS20;H3BUC4;H3BUZ4;Q8IWV7 ABBA01038356;ABBA01038357;AC068724;AC090514;AF061556;AF525401;AK027803;AK054969;AK056441;AK127478;AK292516;AK302489;AMYH02030293;AMYH02030294;AMYH02030295;AMYH02030296;AMYH02030297;AY061886;BC113505;BC113507;BE873236;BX648400;CH471125;CR749326;NG_012182;NM_174916;Z47040 AAC39845;AAI13506;AAI13508;AAL32103;AAO14997;BAB55380;BAF85205;BAG63774;CAH18181;EAW92584;NP_777576;Q8IWV7 Hs.591121 1654169;1660383;1677242;1698556;1783182;1783298;2111254;2111256;2126032;2134880 A008V23;D15S499;D15S500;G17873;RH102830;RH93131;SHGC-132955;SHGC-58004;SHGC-68631;WI-15137 JBS;MGC142065;MGC142067 E3 ubiquitin-protein ligase UBR1;E3a ligase;N-recognin-1;OTTHUMP00000161295;ubiquitin ligase E3 alpha-I;ubiquitin-protein ligase E3-alpha;ubiquitin-protein ligase E3-alpha-1;ubiquitin-protein ligase E3-alpha-I APPROVED protein-coding ENSG00000159459 HGNC:16808 09342 243800;605981 REVIEWED 1313853 UBR2 ubiquitin protein ligase E3 component n-recognin 2 This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 6 6 6 p21.1 44084013 44213528 + 42531748 42661243 + 42564014 42693505 + 6480464 12477932;14574404;14585983;14702039;15317757;15489334;15548684;16196087;16311597;17314511;17360488;17643375;17855541;18029348;18775313;19940298;20080676;20298436;20379614;21139048;21573678;21816346;21890473;21903422;21906983;21963094;21987572;22053931;22190034;22190037;22505724;22616001;23000965;23251661;9205841 23304 B3KXG6;Q8IWV8 AB002347;ABBA01050725;ABBA01050726;ABBA01050727;AK026998;AK090874;AK093676;AK125795;AK127310;AK304070;AK310532;AL049843;AL136223;AL391814;AMYH02013623;AMYH02013624;AY061884;BC024217;BC064512;BC080623;BX647467;CH471081;DR003057;HM370397;KF458163;NM_001184801;NM_015255;XM_005248965;XM_005248966 AAH24217;AAH64512;AAI56046;AAL32101;BAA20806;BAC86295;BAG54478;BAG64977;EAX04094;EAX04095;EAX04096;EAX04097;NP_001171730;NP_056070;Q8IWV8;XP_005249022;XP_005249023 Hs.529925 1664160;1676574;1688184;1700530;1735620;1777224;1848619;2123671;2147364;2163209;2169239;2169241;2186426;5015404;5015861;5015961;5020740;5020948;5021543;5022578;5022651;5024413;7185938 A002V07;A006G20;D10S16;D11S2921;D15S1477;D1S1423;D6S1227E;G20787;G35510;L17705;L17809;L17877;RH103886;RH16533;RH26772;RH36338;RH45756;RH46716;RH65639;RH79035;RH80397;STS-N38966 C6orf133;DKFZp686C08114;FLJ36357;KIAA0349;MGC71112;RP3-392M17.3;bA49A4.1;dJ242G1.1;dJ392M17.3 E3 ubiquitin-protein ligase UBR2;OTTHUMP00000016403;OTTHUMP00000016405;OTTHUMP00000070741;ubiquitin-protein ligase E3-alpha-2;ubiquitin-protein ligase E3-alpha-II APPROVED protein-coding ENSG00000024048 HGNC:21289 09853 609134 REVIEWED 1344986 UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) ENCODES a protein that exhibits ligase activity (inferred); ubiquitin-protein transferase activity (inferred); zinc ion binding (inferred); INVOLVED IN protein ubiquitination (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; calcitriol; copper atom 14 14 14 q32.12 73727407 73749585 + 93673401 93695561 + 93207056 93229215 + 6480464;8554872 12477932;14702039;15489334;16344560;16713569;18029348;18162545;19410544;21139048;21890473;21906983;22505724;22863883;22939629;23000965;24811749;24816145 55148 E9PCJ7;G3V253;G3V2G3;G3V336;H0YJA0;H0YJM2;H0YJY4;Q8N806 ABBA01030434;ABBA01030435;AK001345;AK097477;AK315492;AL110118;AL132838;AMYH02029770;BC015046;BC017013;BC051819;BX248249;CH471061;DA158479;DB047433;KF573699;NM_175748;NR_038150 AAH15046;AAH17013;AAH51819;BAA91639;BAC05069;BAG37876;CAD62577;EAW81521;EAW81522;EAW81523;NP_786924;Q8N806 Hs.648806 1647356;1670117;1721721;1736458;2120576;2132051;2184434 D14S714E;D14S837;G31016;G36175;G59725;NIB303;WI-15801 C14orf130;FLJ10483;MGC9518 N-recognin-7;OTTHUMP00000245677;OTTHUMP00000245682;putative E3 ubiquitin-protein ligase UBR7 protein-coding ENSG00000012963 HGNC:20344 16602 613816 VALIDATED 1346219 UBR3 ubiquitin protein ligase E3 component n-recognin 3 (putative) ENCODES a protein that exhibits ubiquitin-protein transferase activity (ortholog); INVOLVED IN sensory perception of smell (ortholog); suckling behavior (ortholog); ubiquitin-dependent protein catabolic process (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; methyl methanesulfonate; potassium chromate 2 2 2 q31.1 164300400 164556964 + 170684010 170940641 + 169827508 170084131 + 6480464;8554872 12477932;14702039;15489334;15815621;16344560;17360488;17462990;17855541;19549727;19850743;19910543;21139048;21816346;21890473;21906983;21933813;22493164;8889548 130507 F8WEB7;H0Y3K2;H7BZD8;H7C481;Q6ZT12 AB095944;ABBA01014900;ABBA01014901;ABBA01014902;ABBA01014903;ABBA01014904;AC009967;AC079151;AC092641;AI142128;AK094741;AK126998;AK127553;AK128490;AK303062;AL834144;AMYH02005196;AMYH02005197;AMYH02005198;AMYH02005199;AMYH02005200;AMYH02005201;BC044060;BC044594;BC113010;BF446017;BU158552;BU686724;BX281113;BX494687;BX649036;CH471058;CR749469;DA108743;DA234864;DA301129;DA352029;DN831941;DR731153;NM_172070;XM_005246299;XM_005246300;XM_006712268;XM_006712269;XM_006712270;XM_006712271 AAY14890;BAC23120;BAC86783;BAC87032;BAC87462;BAG64179;CAD38857;CAH18299;EAX11248;EAX11249;EAX11250;NP_742067;Q6ZT12;XP_005246356;XP_005246357;XP_006712331;XP_006712332;XP_006712333;XP_006712334 Hs.379548 1688664;1720195;1722207;1726611;1728585;1856692;2136840;2155382;2181109;2182472;2183111;5491431 D2S1316;D2S2775;G60007;G62540;G63584;MARC_11813-11814:1029266043:1;RH124011;RH45361;RH70936;RH93598;SGC38024;SHGC-35469 DKFZp434P117;DKFZp686N10185;FLJ37422;KIAA2024;MGC126489;ZNF650 E3 ubiquitin-protein ligase UBR3;N-recognin-3;OTTHUMP00000163072;ubiquitin protein ligase E3 component n-recognin 3;ubiquitin-protein ligase E3-alpha-3;ubiquitin-protein ligase E3-alpha-III;zinc finger protein 650 protein-coding ENSG00000144357 HGNC:30467 15887 613831 VALIDATED 1317795 UBTD1 ubiquitin domain containing 1 The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protein that belongs to the ubiquitin family of proteins. The encoded protein is thought to regulate E2 ubiquitin conjugating enzymes belonging to the UBE2D family. [provided by RefSeq, Mar 2014] 10 10 10 q24.2 92996834 93068256 + 99258768 99330960 + 97499011 97571203 + 737633;1580863;6480464 12477932 14702039;15164054;15489334;16189514;17207965;21139048;21890473;21906983;21988832;23000965;23251661;23398456;24211586;24250222;8125298 80019 Q9HAC8 ABBA01021800;ABBA01021801;ABBA01021802;AK021869;AK222597;AL359388;AMYH02023610;AMYH02023611;BC007331;BM922594;CB306542;CH471066;NM_024954 AAH07331;ADQ31617;BAB13921;BAD96317;EAW49918;EAW49919;EAW49920;NP_079230;Q9HAC8 Hs.500724 1684526;1719631 RH123720;RH99032 FLJ11807 OTTHUMP00000020209;ubiquitin domain-containing protein 1 protein-coding ENSG00000165886 HGNC:25683 08568 REVIEWED 1350466 UBR4 ubiquitin protein ligase E3 component n-recognin 4 The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in the cytoplasm and part of the chromatin scaffold in the nucleus. In addition, this protein is a target of the human papillomavirus type 16 E7 oncoprotein. [provided by RefSeq, Aug 2010] 1 1 1 p36.13 17728031 17863733 - 19401000 19536812 - 19074506 19210318 - 6480464;8554872 10718198;12477932;12938929;14702039;15231748;16055722;16061792;16196087;16214886;16247014;17353931;17360488;17550899;17855541;18775313;19013454;19380743;19460752;19738201;19946888;20379614;21110914;21139048;21890473;21900206;21906983;21963094;21987572;22174317;22190034;22586326;22623428;22863883;22939629;23314748;23383273;23443559;23524849;23555265;23667531;24250222;24797263;24811749;24816145;8619474;9110174;9455484 23352 B4DPF6;B4DYV5;Q5T4S7;Q5TBN9;X6R960;X6RE05 AA748129;AB007931;AB037728;ABBA01059754;AF055010;AF348492;AJ505016;AK000331;AK001233;AK022322;AK022573;AK022924;AK023826;AK024105;AK025149;AK026543;AK056218;AK092390;AK123857;AK125800;AK298314;AK302623;AL049972;AL137127;AL357564;AMYH02000418;AMYH02000419;BC007962;BC015865;BC018694;BC041137;BC063573;BC073905;BC096758;CH471134;NG_027669;NM_020765;XM_005245802;XM_006710503;XM_006710504;XM_006710505;XM_006710506;XM_006710507;XM_006710508;XM_006710509;XM_006710510 AAC09360;AAH07962;AAH18694;AAH63573;AAH73905;AAH96758;AAL83880;BAA32307;BAA92545;BAB14011;BAC86298;BAG50874;BAG51094;BAG60568;BAG63867;CAB43227;CAD43719;EAW94864;EAW94865;EAW94866;EAW94867;EAW94868;EAW94869;NP_065816;Q5T4S7;XP_005245859;XP_006710566;XP_006710567;XP_006710568;XP_006710569;XP_006710570;XP_006710571;XP_006710572;XP_006710573 Hs.148078;Hs.649405 1338008;1693126;1733060;1758079;2120347;2165996;2176802;5491435 AL009362;AL010099;AL034283;D1S1405;D1S378;MARC_11973-11974:1003947509:1;SHGC-147292;SHGC-74307 FLJ41863;KIAA0462;KIAA1307;RBAF600;RP5-1126H10.1;ZUBR1;p600 600 kDa retinoblastoma protein-associated factor;E3 ubiquitin-protein ligase UBR4;N-recognin-4;OTTHUMP00000002585;retinoblastoma-associated factor 600;retinoblastoma-associated factor 600-like protein;retinoblastoma-associated factor of 600 kDa;zinc finger UBR1-type protein 1 APPROVED protein-coding ENSG00000127481 HGNC:30313 10184 609890 REVIEWED 1601834 UBTD2 ubiquitin domain containing 2 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 5 5 5 q35.1 167669063 167693766 - 171636648 171710795 - 172209644 172283791 - 6480464;8554872 12477932;12507522;14702039;15372022;15489334;15987890;16344560;18029348;20440844;21890473;21906983;23000965 92181 B2R886;B3KMW8;Q8WUN7 ABBA01044049;ABBA01044050;ABBA01044051;ABBA01044052;AC008671;AC024561;AF251700;AK022894;AK313274;AMYH02012746;AMYH02012747;AMYH02012748;AU117374;BC019910;BU849695;CH471062;NM_152277;XM_005266010 AAH19910;AAL99389;BAG36083;BAG51130;EAW61436;EAW61437;NP_689490;Q8WUN7;XP_005266067 Hs.131570 1686734;1693810;1706754;1854783;2115577 A008U21;RH93379;SHGC-58952;SHGC-80843;WI-22520 DC-UbP;DCUBP;MGC30022 OTTHUMP00000161074;ubiquitin domain-containing protein 2;ubiquitin-like protein SB72 protein-coding ENSG00000168246 HGNC:24463 13118 610174 VALIDATED 2302195 UBTFL2 upstream binding transcription factor, RNA polymerase I-like 2 (pseudogene) 11 11 11 q14.3 85144253 85145221 + 89486180 89487148 - 89753012 89753980 - 19915186 120126 ABBA01011516;AMYH02025270;AP003122;CH471185;NG_012230 EAW59351 APPROVED pseudo HGNC:35169 INFERRED 1312367 UBTFL1 upstream binding transcription factor, RNA polymerase I-like 1 UBTFL1 is a preimplantation-specific gene and is involved in early development, implantation, and embryonic stem (ES) cell derivation (summary by Yamada et al., 2010 [PubMed 19915186]).[supplied by OMIM, Jan 2011] 11 11 11 q14.3 85144267 85145448 + 89819118 89820299 + 90085950 90087131 + 16554811;19915186 642623 P0CB47 ABBA01040074;AMYH02025311;AP000827;NM_001143975 NP_001137447;P0CB47 Hs.719885 C11orf27;HMGPI OTTHUMP00000207680;putative upstream-binding factor 1-like protein 1;upstream-binding factor 1-like protein 1 APPROVED protein-coding ENSG00000255009 HGNC:14533 613696 VALIDATED 2302836 UBTFL3 upstream binding transcription factor, RNA polymerase I-like 3 (pseudogene) 2 2 2 q11.1 92457050 92459089 - 96290998 96292152 + 95625250 95626404 + 15815621;17974005 129870 AC009237;NG_023214 UBTFL5 putative upstream-binding factor 1-like protein 3/5 APPROVED pseudo HGNC:35402 INFERRED 2302186 UBTFL4 upstream binding transcription factor, RNA polymerase I-like 4 q11.1 100216327 BX647558 Hs.639911 protein-coding HGNC:35403 2302192 UBTFL5 upstream binding transcription factor, RNA polymerase I-like 5 (pseudogene) 2 2 q11.1 96116053 96117234 - 95450305 95451486 - 728231 AC133104;NG_023413 upstream binding transcription factor, RNA polymerase I-like 5 APPROVED pseudo HGNC:35405 VALIDATED 2302194 UBTFL6 upstream binding transcription factor, RNA polymerase I-like 6 (pseudogene) ENCODES a protein that exhibits DNA binding (inferred); FOUND IN nucleus (inferred) 2 2 2 q11.2 92457050 92459089 - 98253048 98254228 - 97636585 97637765 - 15815621 643615 P0CB48 ABBA01073975;AC017099;AMYH02004375;NG_027836 P0CB48 Putative upstream-binding factor 1-like protein 6;upstream binding transcription factor, RNA polymerase I-like 6 APPROVED pseudo HGNC:35406 INFERRED 2302191 UBTFL7 upstream binding transcription factor, RNA polymerase I-like 7 (pseudogene) 11 11 11 p11.12 49254816 49255997 + 49103468 49104649 + 49081916 49083097 + 11181995 646759 ABBA01060669;AC084851;AMYH02024762;CH471064;NG_006986 EAW67862 APPROVED pseudo HGNC:35404 INFERRED 734082 UBTF upstream binding transcription factor, RNA polymerase I This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011] 17 17 17 q21.31 38991137 39006972 - 42282401 42298994 - 44205033 44221626 - 1580863;1580791;6480464;8548475 12885411;20046924 10202152;10329630;10913176;11042686;11075946;11106745;11250903;11592397;11698641;11741541;11790298;11916260;11969401;12393749;12477932;12498690;12554758;12590579;12646563;12748295;15016909;15226435;15249688;15282543;15342556;15489334;15598984;15635413;15723054;15752694;15761153;15924431;15970593;15975576;16169070;16186106;16777843;16809778;16858408;16924243;17251981;17260958;17318177;17332342;17505112;17699751;18029348;18502146;19088274;19174463;19393134;1940801;19452555;19454010;19471022;19527688;19596686;2014238;20160071;20197409;20467438;20713446;21139048;21162312;21177859;21182205;21252943;21546905;21668587;21693764;21890473;21906983;21963094;22147730;22178446;22393235;22505724;22586326;22939629;22952844;23000965;2330041;23591814;24457600;24583282;24816145;3413483;7651819;7877691;8552083;8641287;8702533;9126496;9426281;9582279 7343 E9PKP7;E9PLT2;E9PMM2;H0YDH7;P17480 ABBA01028381;ABBA01028382;AC004596;AF289595;AJ308590;AK291733;AK292518;AK292577;AK296917;AK298008;AK308321;AMYH02033472;AMYH02033473;BC031423;BC042297;BP230502;CH471178;DR000113;M61724;NG_029864;NM_001076683;NM_001076684;NM_014233;NR_045058;U65487;X53390;X53461;X56687;XM_006722059;XM_006722060;XM_006722061 AAC51239;AAH31423;AAH42297;AAL55779;BAF84422;BAF85207;BAF85266;BAG59472;BAG60313;CAA37469;CAA37548;CAA40016;CAC34632;EAW51616;EAW51617;EAW51618;EAW51619;EAW51620;NP_001070151;NP_001070152;NP_055048;P17480;XP_006722122;XP_006722123;XP_006722124 Hs.89781 1644865;1688789;2110017;2123502;2132091;2134353;2143678;2190887;2191343;5019703;5096496 A009G46;D17S2047;G15974;G32535;MARC_10313-10314:998934876:1;MARC_17735-17736:1031759262:1;RH70694;RH93951;SHGC-30675;STS-N39596;UBTF__5182 NOR-90;UBF;UBF-1;UBF1;UBF2 90-kDa nucleolus organizer region autoantigen;OTTHUMP00000236247;OTTHUMP00000236248;OTTHUMP00000236257;OTTHUMP00000236258;OTTHUMP00000236259;OTTHUMP00000236260;OTTHUMP00000236261;OTTHUMP00000236283;autoantigen NOR-90;nucleolar transcription factor 1;transcription factor ubf;upstream-binding factor 1 APPROVED protein-coding ENSG00000108312 HGNC:12511 02814 600673 REVIEWED 1606294 UBXN1 UBX domain protein 1 ENCODES a protein that exhibits ATPase binding; K6-linked polyubiquitin binding; polyubiquitin binding; INVOLVED IN negative regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of protein ubiquitination; FOUND IN Cdc48p-Npl4p-Ufd1p AAA ATPase complex; cytoplasm; proteasome complex; INTERACTS WITH (+)-catechin; atrazine; copper(2+) sulfate 11 11 11 q12.3 59773551 59776106 - 62443972 62446554 - 62676498 62679117 - 6480464 10942595;12477932;12838346;14702039;15342556;15362974;15489334;15761153;15944415;16396636;17207965;17353931;18330356;18775313;18781797;19285159;19615732;20351172;21135095;21139048;21145461;21890473;21906983;21963094;21987572;22053931;22505724;22863883;22902628;22939629;23000965;23463506;23545497;24654937;24816145;25015289 51035 E9PJ81;E9PRQ7;E9PS08;Q04323 ABBA01003236;AI498746;AK054832;AK297856;AK300542;AK303471;AK316012;AMYH02024896;AP001458;AX961874;AX961876;BC000902;BC001372;BC032689;BC040129;BI855821;BP329601;CH471076;CQ834652;CQ834654;M68864;NM_001286077;NM_001286078;NM_015853;XM_005274033 AAA36396;AAH00902;AAH01372;AAH32689;AAH40129;ACT64462;ADQ33212;BAG51430;BAG60188;BAG62250;BAG64510;BAH14383;CAF06446;CAF06447;CAH05541;CAH05542;EAW74061;EAW74062;EAW74063;EAW74064;EAW74065;EAW74066;EAW74067;NP_001273006;NP_001273007;NP_056937;Q04323;XP_005274090 Hs.351296;Hs.731509 1676168;1745985 RH125269;RH79660 2B28;SAKS1;UBXD10 OTTHUMP00000236216;OTTHUMP00000236217;OTTHUMP00000236219;OTTHUMP00000236220;SAPK substrate protein 1;UBA/UBX 33.3 kDa protein;UBX domain-containing protein 1 APPROVED protein-coding ENSG00000162191 HGNC:18402 11266 VALIDATED 737092 UBXN11 UBX domain protein 11 This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 25005107 25041075 - 26608773 26644756 - 26282282 26318265 - 6480464 11940653;12477932;14583468;14702039;15231748;16189514;16202387;16344560;18775313;18974390;23251661;24722188;8619474;9110174 91544 B7Z1T8;B7Z3N8;Q5T118;Q5T124;Q5T130;X6R8K8;X6R8M6;X6RDK7;X6RDY0;X6RIY5 ABBA01034902;ABBA01034903;ABBA01034904;AF370425;AF520989;AF521017;AF521018;AK074358;AK090792;AK093258;AK094198;AK097368;AK291503;AK293910;AK296179;AL451139;AMYH02000560;AMYH02000561;AMYH02000562;AY007163;BC038106;BM987787;BX647774;BX648412;CH471059;CR749413;DA421971;DA989799;NG_028986;NM_001077262;NM_145345;NM_183008 AAH38106;AAM74201;AAM74202;AAM76060;AAQ15261;BAC04112;BAC04307;BAC05024;BAF84192;BAH11624;BAH12274;CAH18255;CAH56155;EAX07823;EAX07824;EAX07825;EAX07826;EAX07827;EAX07828;EAX07829;EAX07830;NP_001070730;NP_663320;NP_892120;Q5T124 Hs.145061 COA-1;DKFZp686F04228;PP2243;SOC;SOCI;UBXD5 OTTHUMP00000003460;OTTHUMP00000003461;OTTHUMP00000003462;OTTHUMP00000003463;OTTHUMP00000003562;OTTHUMP00000038076;UBX domain containing 5;UBX domain-containing protein 11;UBX domain-containing protein 5;colorectal tumor-associated antigen COA-1;colorectal tumor-associated antigen-1;socius APPROVED protein-coding ENSG00000158062 HGNC:30600 10245 609151 REVIEWED 1320427 UBXN2A UBX domain protein 2A ENCODES a protein that exhibits acetylcholine receptor binding (inferred); INVOLVED IN regulation of gene expression (inferred); regulation of protein catabolic process (inferred); regulation of protein ubiquitination (inferred); FOUND IN cis-Golgi network (inferred); cytosol (inferred); endoplasmic reticulum (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; formaldehyde 2 2 2 p23.3 24003779 24064099 + 24150132 24223701 + 23927615 24000831 + 737633;6480464 12477932 15489334;18775313;19197348;19615732;21139048;21326311;21890473;21900206;22454508;23000965;23251661;23443559 165324 P68543 ABBA01045096;ABBA01045097;ABBA01045098;ABBA01045099;AC066692;AK291192;AL832079;AMYH02003410;BC016364;BC037901;BC092484;BC093681;BC111997;BC143298;CH471053;NM_181713;XM_005264166;XM_005264167;XM_005264168;XM_005264169;XM_005264171;XM_006711955 AAH92484;AAH93681;AAI11998;AAI43299;AAY14818;BAF83881;EAX00777;EAX00778;EAX00779;EAX00780;NP_859064;P68543;XP_005264223;XP_005264224;XP_005264225;XP_005264226;XP_005264228;XP_006712018 Hs.591576 2164574;2164576;5016478;5022578;5022651 A005Z15;D11S2921;D1S1423;G20619;GDB:434012 MGC138202;UBXD4 OTTHUMP00000155152;OTTHUMP00000200716;UBX domain containing 4;UBX domain-containing protein 2A;UBX domain-containing protein 4 protein-coding HGNC:27265 10292 VALIDATED 1605385 UBR5 ubiquitin protein ligase E3 component n-recognin 5 This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008] 8 8 8 q22 99450466 99609463 - 103264501 103424947 - 102252273 102412719 - 2306813;6480464;6907045;8554872;8661242 14871824;24002223 10030672;10048485;11287654;11714696;12011095;12168954;12477932;12594221;12840015;12902990;12938929;14702039;15231748;15592455;16051665;16055722;16083285;16196087;16335966;16565220;16601676;17074762;17081983;17148452;17353931;17360488;17620599;17643375;17696464;17855541;17897937;18073532;18349819;18457437;18775313;18976975;19270065;19287380;19471022;19615732;19946888;20025491;20096703;20351170;20360068;20544796;20805509;21118991;21127351;21139048;21145461;21228227;21252943;21320693;21383020;21693764;21726808;21726813;21890473;21906983;21942715;21949371;21963094;21987572;22118674;22374670;22496338;22505724;22586326;22884692;22939629;22990118;23000965;23027739;23069210;23254330;23362280;23383273;23407552;23443559;23524849;23612978;23667531;23752268;23878065;24058416;24145130;24189493;24255178;24379240;24438055;24811749;25092319 51366 E5RFK7;E7EMW7;E7ET84;H0YAV7;H0YBB4;O95071 AB020703;ABBA01037602;ABBA01037603;ABBA01037604;ABBA01037605;AF006010;AK002172;AK124995;AL833555;AMYH02018526;AP002907;AP002981;BC037843;BC044598;BC053948;BC137234;BC151231;BX489192;CH471060;NM_001282873;NM_015902;U95000;XM_005250956;XM_005250957;XM_005250959;XM_005250960;XM_005250962;XR_242392 AAD01259;AAF88143;AAH44598;AAI37235;BAA74919;BAG51024;EAW91843;EAW91844;EAW91845;EAW91846;NP_001269802;NP_056986;O95071;XP_005251013;XP_005251014;XP_005251016;XP_005251017;XP_005251019 Hs.492445 1646142;1663688;1675477;1786590;2115724;2117348;2122760;2124675;2148625;2157067;2161189;2164300;2164302;2171933;2184612;2190569 A004H21;A005L32;A006N17;EST4E9;G20314;HSC2MD092;RH15795;RH17938;RH18437;RH46007;RH48415;SGC33262;SHGC-142115;SHGC-52495;STS-H27554;WI-21460 DD5;EDD;EDD1;FLJ11310;HYD;KIAA0896;MGC57263;hHYD E3 identified by differential display;E3 ubiquitin protein ligase, HECT domain containing, 1;E3 ubiquitin-protein ligase UBR5;E3 ubiquitin-protein ligase, HECT domain-containing 1;OTTHUMP00000227389;OTTHUMP00000227453;OTTHUMP00000227455;hyperplastic discs protein homolog;progestin induced protein;progestin-induced protein;ubiquitin-protein ligase APPROVED protein-coding ENSG00000104517 HGNC:16806 06436 608413 REVIEWED 2299012 UBXN2B UBX domain protein 2B FOUND IN endoplasmic reticulum (inferred); Golgi apparatus (inferred); nucleus (inferred); INTERACTS WITH formaldehyde; pirinixic acid; cisplatin (ortholog) 8 8 8 q12.1 55316857 55357075 + 59323823 59364060 + 58411264 58451501 + 6480464 12477932;14702039;17141156;18775313;19615732;20379614;20875789;21906983;21963094;23496005;23649807;8619474;9110174 137886 E5RGJ4;E5RJ36;H0YAX6;Q14CS0 ABBA01041788;AC009927;AK054658;AK091561;AK126300;AL831990;AL833075;AMYH02018030;BC113645;BX647876;NM_001077619;U79282;XM_005251165;XM_005251166;XR_242453 AAI13646;ADR83146;BAG54305;NP_001071087;Q14CS0;XP_005251222;XP_005251223 Hs.155572 1677897;1684220;1689332 RH81080;RH92458;RH98878 p37 NSFL1 cofactor p37;OTTHUMP00000226407;UBX domain-containing protein 2B;p97 cofactor p37 protein-coding ENSG00000215114 HGNC:27035 610686 VALIDATED 1347744 UBXN6 UBX domain protein 6 PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; benzo[a]pyrene diol epoxide I 19 19 19 p13 4383244 4396018 - 4445003 4457791 - 4445006 4457794 - 6480464;6907045;8554872 11342112;12477932;15489334;16341674;16807242;17623298;18029348;18656546;18775313;19056867;19174149;19275885;19322201;21139048;21822278;21832049;21896481;21900206;21906983;21914798;21963094;22337587;22350894;22505724;22939629;23000965;23335559;23349634;23383273;23824909 80700 K7EJ02;K7ELN1;K7EP32;Q9BZV1 ABBA01056072;ABBA01056073;AC011498;AF272893;AF272894;AK090473;AL833695;AMYH02035287;AMYH02035288;BC007414;BC008288;BC017113;BM764980;CH471139;NM_001171091;NM_025241 AAH07414;AAH08288;AAH17113;AAK13257;AAK13258;BAC03454;EAW69219;EAW69220;EAW69221;EAW69222;EAW69223;NP_001164562;NP_079517;Q9BZV1 Hs.435255 1682525;1690812;1694452;2169227;5094064 G34951;G42939;RH67001;RH78272;RH80339 DKFZp667D109;FLJ00394;UBXD1;UBXDC2 UBX domain containing 1;UBX domain-containing 1;UBX domain-containing 2;UBX domain-containing protein 1;UBX domain-containing protein 6 protein-coding ENSG00000167671 HGNC:14928 18253 611946 VALIDATED 1318044 UBXN10 UBX domain protein 10 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH amiodarone; benzo[a]pyrene; C60 fullerene (ortholog) 1 1 1 p36.12 18835696 18843061 + 20512578 20522540 + 20186085 20196047 + 737633;6480464;8554872 12477932 14702039;15489334;17207965;18775313;21832049;23455924 127733 Q3ZCW1;Q96LJ8 ABBA01059774;AK058158;AMYH02000428;BC036417;BC047428;BX648631;CH471134;NM_152376;XM_005245742;Z98257 AAH36417;AAH47428;ADQ32492;BAB71693;EAW94920;NP_689589;Q96LJ8;XP_005245799 Hs.432503 1657356;1686222;1687347 RH91975;RH98493;SHGC-74326 FLJ25429;UBXD3 OTTHUMP00000002792;UBX domain containing 3;UBX domain-containing protein 10;UBX domain-containing protein 3 APPROVED protein-coding HGNC:26354 18255 PROVISIONAL 6481379 UBXN7-AS1 UBXN7 antisense RNA 1 3 3 q29 196158223 196159905 + 196431239 196433034 + 14702039;8889548 100874034 ABBA01033738;AC083822;AK092964;AMYH02008487;BM688597;XR_249551;XR_251529;XR_427461 BAC04009 Hs.617990;Hs.687778 APPROVED ncrna HGNC:41227 MODEL 1346853 UBC ubiquitin C This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010] 12 12 12 q24.3 124997873 125000802 - 125396192 125399587 - 124911646 124915041 - 6480464 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7316 F5GXK7;F5GYU3;F5GZ39;F5H041;F5H265;F5H2Z3;F5H388;F5H6Q2;F5H747;L8B4I8;P0CG48;Q96C32 AB003730;AB009010;AB089613;AB209782;AB643785;ABBA01060362;AC126309;AF052164;AK026846;AK056939;AK097415;AK098827;AK129749;AK291539;AL117514;AMYH02027479;AW069329;AY732488;AY819759;BC000449;BC008955;BC014880;BC039193;BC080583;BC093445;BE873233;BF793240;BU195276;CH471054;D63791;DB077241;DC395997;KF455729;M17597;M26880;NG_027722;NM_021009 AAA36787;AAA36789;AAH08955;AAH14880;AAH39193;AAH80583;AAV33127;AAV68344;BAA09860;BAA23486;BAA23632;BAB71316;BAC56951;BAD93019;BAF84228;BAM77032;CAB55973;EAW98463;EAW98464;EAW98465;EAW98466;NP_066289;P0CG48 Hs.520348;Hs.707528 2141910;2157017 Bda03b10;STS-W31616 HMG20 OTTHUMP00000239012;OTTHUMP00000239019;polyubiquitin-C APPROVED protein-coding ENSG00000150991 HGNC:12468 07038 191340 REVIEWED 1607058 UBXN7 UBX domain protein 7 ENCODES a protein that exhibits transcription factor binding; ubiquitin binding; ubiquitin protein ligase binding; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN Cdc48p-Npl4p-Ufd1p AAA ATPase complex; nucleus; INTERACTS WITH methyl methanesulfonate; tert-butyl hydroperoxide; valproic acid 3 3 3 q29 194660553 194739639 - 196079745 196159411 - 196353490 196432474 - 6480464;8554872 12477932;14702039;15489334;16344560;18775313;18781797;19471022;20972266;21139048;21145461;21252943;21645854;21693764;21832049;21890473;21906983;21963094;21987572;22053931;22466964;22505724;22537386;22863883;22939629;23000965;23251661;24076655;24250222;24816145;9872452 26043 C9JAT7;C9JD50;F8WB69;H7BYF4;O94888 AB018337;ABBA01033735;ABBA01033736;ABBA01033737;ABBA01033738;AC069257;AC083822;AK026451;AK129880;AK303630;AK307899;AK308699;AMYH02008483;AMYH02008484;AMYH02008485;AMYH02008486;AMYH02008487;BC028986;BC047420;BG253663;CH471191;DA119173;NM_015562 AAH28986;AAI60090;BAA34514;BAC85247;BAG64638;EAW53652;EAW53654;NP_056377;O94888 Hs.518524 1686927;1770754;5037552 D3S4114;D8S2279;WIAF-2556 KIAA0794;UBXD7 OTTHUMP00000208358;UBX domain containing 7;UBX domain-containing protein 7 protein-coding HGNC:29119 VALIDATED 1603319 UBXN8 UBX domain protein 8 p97 or VCP (valosin-containing protein) is a versatile ATPase complex, and many cofactors are required for the p97 functional diversity. This gene encodes one of the p97 cofactors. This cofactor is a transmembrane protein and localized in the endoplasmic reticulum (ER) membrane. It tethers p97 to the ER membrane via its UBX domain. The association of this cofactor with p97 facilitates efficient ER-associated degradation of misfolded proteins. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2013] 8 8 8 p12-p11.2 29561773 29584614 + 30601690 30624522 + 30744165 30767006 + 6480464 12477932;15489334;17207965;18775313;21890473;21906983;21949850;23798571;24816145;9027507 7993 O00124 ABBA01023656;ABBA01023657;ABBA01023658;AC009314;AK296600;AMYH02017719;AMYH02017720;AMYH02017721;AY302140;BC020694;BI462115;BI755534;BQ019612;CH471080;D83767;D83768;KF458723;KF458726;KF459648;NG_033787;NM_001282189;NM_001282199;NM_005671 AAH20694;AAP57632;ADQ32086;BAA18958;BAA18959;BAG59213;EAW63437;EAW63438;EAW63439;NP_001269118;NP_001269128;NP_005662;O00124 Hs.153678 1647855;5094010 A010A35;G33054 D8S2298E;REP8;UBXD6 Reproduction/chromosome 8;UBX domain containing 6;UBX domain-containing protein 6;UBX domain-containing protein 8;rep-8 protein;reproduction 8 protein protein-coding ENSG00000104691 HGNC:30307 03692 602155 REVIEWED 1351035 UCHH2 ubiquitin carboxyl-terminal esterase H2 (ubiquitin thiolesterase) 7344 HGNC:12512 7074327 UBTFL8 upstream binding transcription factor, RNA polymerase I-like 8 (pseudogene) 3 3 3 p26.1 5059182 5064112 - 5121263 5126193 - 5079578 5084508 - 643182 ABBA01020462;AC090955;AMYH02006189;NG_008907 pseudo HGNC:44476 INFERRED 7243017 UCHL1-AS1 UCHL1 antisense RNA 1 (head to head) ASSOCIATED WITH Lung Neoplasms (inferred) 4 4 p13 41222091 41258744 - 41220074 41256727 - 8554872 15146197;16344560 101410542 ABBA01014261;AC095043;AC096712;AMYH02009094;AMYH02009095;CN277289;DB169394;HG496858;NR_102709 Hs.518731 RP11-124A7.2 ncrna ENSG00000251173 HGNC:40600 VALIDATED 2311619 UCA1 urothelial cancer associated 1 (non-protein coding) This gene represents a long non-coding RNA. It plays a regulatory role in bladder cancer cell proliferation. Several genes can be regulated by this gene, and the most important one is the CREB (cAMP responsive element binding protein) gene, which encodes a transcriptional factor and affects the oncogenesis. [provided by RefSeq, Mar 2012] 19 19 19 p13.12 15837671 15844144 + 15939757 15947131 + 15828947 15836321 + 6480464 12477932;14702039;16914571;17416635;18501714;20117985;22118674;22285928;22576688;23801869;24332332;24457952;24737584 652995 ABBA01051124;AC004510;AK024303;AK092401;AMYH02035665;BC005351;BC017567;BC022824;BC055082;BC070340;BC107722;DQ249310;DQ343132;EU334869;GU357550;GU799561;GU799562;GU799563;GU799564;GU799565;HQ833208;HQ833209;NR_015379 Hs.644234 1696980;2120291;2130857;5111919 A009A18;G42921;RH101962;SHGC-56644 CUDR;LINC00178;NCRNA00178;UCAT1 APPROVED ncrna ENSG00000214049 HGNC:37126 REVIEWED 1316650 UBXN4 UBX domain protein 4 UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM, Mar 2008] 2 2 2 q21.3 130209950 130253395 + 136499189 136542633 + 135741619 135785063 + 6480464;8554872 11076863;11230166;12477932;14702039;15342556;15489334;15489336;16169070;16381901;16968747;18029348;18711132;18775313;19322201;19822669;21139048;21906983;21979947;24816145;9039502 23190 B3KTD5;C9JLR4;F8WB86;Q6PJ80;Q92575 ABBA01028163;AC011893;AI039259;AK026971;AK095402;AK292829;AK304096;AK311058;AMYH02004853;AMYH02004854;BC020806;BC035594;BP247627;BX647216;BX647662;CH471058;D87684;EF199840;NM_014607;XM_006712370 AAH20806;AAH35594;AAX88923;ABM82049;ABM85228;ABM90426;BAA13437;BAF85518;BAG53047;BAG65002;CAL37639;CAL38355;EAX11623;EAX11624;EAX11625;NP_055422;Q92575;XP_006712433 Hs.591242 1693506;1754641;1797020;2137974;2171337;5492125 BARC0057;RH67789;RH70068;SHGC-132989;SHGC-58383;UBXD2_1405 FLJ23318;KIAA0242;KIAA2042;UBXD2;UBXDC1 OTTHUMP00000204140;UBX domain containing 2;UBX domain-containing 1;UBX domain-containing protein 2;UBX domain-containing protein 4;erasin APPROVED protein-coding ENSG00000144224 HGNC:14860 18254 611216 VALIDATED 1353779 UCHL2 ubiquitin carboxyl-terminal esterase L2 (ubiquitin thiolesterase) 7346 HGNC:12514 7756842 UBXN10-AS1 UBXN10 antisense RNA 1 1 1 p36.12 20510768 20513066 - 20184242 20186486 - 101928017 AA683341;ABBA01059774;AI651649;AMYH02000428;AW970795;BX106299;NR_110078;Z98257 Hs.550803 ncrna ENSG00000225986 HGNC:41141 VALIDATED 1318012 UCK1 uridine-cytidine kinase 1 This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012] 9 9 9 q34.13 104939363 104946841 - 134399183 134406662 - 131523796 131531275 - 737633;1580863;634248;6480464;6907045 10581173;12477932 11306702;14702039;15164053;15489334;16169070;16344560;18080217;21890473;21988832;22505724;23000965;24250222 83549 G3V170;Q9HA47 AA809511;ABBA01012098;AF125106;AF237290;AF254133;AK022317;AK057848;AK295471;AK307475;AL358781;AMYH02021794;BC015547;BC091495;BI770572;CH471090;CR457281;DA598285;HH961850;NM_001135954;NM_001261450;NM_001261451;NM_031432;XM_005272224;XM_005272225;XR_246602;XR_246603 AAH15547;AAH91495;AAK28324;AAK49122;AAL75943;BAB14010;BAG58400;CAG33562;CBX51398;EAW87979;EAW87980;EAW87981;EAW87982;EAW87983;EAW87984;NP_001129426;NP_001248379;NP_001248380;NP_113620;Q9HA47;XP_005272281;XP_005272282 Hs.9597 1650380;1701256;1753987;2120293;2145061;2175833;2175989;2187188 A004H35;A004N19;D9S1959;D9S2067;NIB247;RH104256;RH16428;SHGC-132019 FLJ12255;RP11-334J6.5;UCK 1;URK1 OTTHUMP00000022400;OTTHUMP00000022401;OTTHUMP00000022403;OTTHUMP00000022404;cytidine monophosphokinase 1;uridine monophosphokinase 1 APPROVED protein-coding ENSG00000130717 HGNC:14859 18256 609328 REVIEWED 731673 UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 13 13 13 q22.2 57021803 57077943 + 76123616 76180156 + 75549480 75606020 + 1580863;6480464 10518943;10527871;12477932;12721789;14595809;14673145;15057823;15489334;15531586;16344560;16402389;16503656;16713569;17207965;18029348;18781797;19047059;19154770;19343046;19476499;19615732;19636824;20622874;20639865;21139048;21235224;21453705;21762696;21890473;21900206;22053931;22086173;22118674;22279964;22284438;22510564;22626734;22679485;22939629;23105109;23562823;23801757;23824909;24654937;24798214;2530630;9233788;9521656;9790970 7347 P15374;Q5TBK7 AA234624;ABBA01021644;ABBA01021645;ABBA01021646;AK313665;AL137244;AMYH02028280;AMYH02028281;AMYH02028282;BC018125;BQ427804;BT019359;CH471093;CR456855;DA820150;M30496;NM_001270952;NM_006002;XM_005266514;XM_005266515;XM_006719863 AAA36791;AAH18125;AAV38166;ADQ31597;BAG36417;CAG33136;EAW80542;EAW80543;EAW80544;EAW80545;EAW80546;EAW80547;NP_001257881;NP_005993;P15374;XP_005266571;XP_005266572;XP_006719926 Hs.162241 1654664;1724117;1739617;5094989 D13S1208E;RH119058;SHGC-30014;UCHL3 UCH-L3 OTTHUMP00000018509;ubiquitin carboxyl-terminal hydrolase isozyme L3;ubiquitin thioesterase L3;ubiquitin thiolesterase APPROVED protein-coding ENSG00000118939 HGNC:12515 04367 603090 REVIEWED 1626527 UCKL1-AS1 UCKL1 antisense RNA 1 20 20 20 q13.33 59271371 59274972 + 62584737 62588338 + 63953384 63956985 + 14702039;17525332;23535732 100113386 ABBA01021434;AK128497;AL118506;AMYH02037476;NR_027287 Hs.551552 2114012;5015621;5020948;5022578;5022651;5037552;5109281 AB056405;D11S2921;D11S3732;D1S1423;D1S1425;D8S2279;G35510 FLJ46647;UCKL1-AS;UCKL1AS;UCKL1OS APPROVED ncrna HGNC:31967 VALIDATED 1350104 UCMA upper zone of growth plate and cartilage matrix associated ENCODES a protein that exhibits selenium binding (inferred); INVOLVED IN intracellular protein transport (inferred); negative regulation of osteoblast differentiation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN aggresome (inferred); extracellular space (inferred); integral component of endoplasmic reticulum membrane (inferred); INTERACTS WITH benzo[a]pyrene; 3,4-methylenedioxymethamphetamine (ortholog); titanium dioxide (ortholog) 10 10 10 p13 13190573 13203144 - 13263771 13276331 - 13221771 13234331 - 737633;6480464;8554872 12477932 15164054;15489334;17707622;18156182;18836183;24409676 221044 Q8WVF2;R4GMV7 ABBA01034632;AL138764;AMYH02022171;BC018068;CH471072;JX169863;JX169864;JX169865;NM_145314 AAH18068;AGH25906;AGH25907;AGH25908;EAW86296;NP_660357;Q8WVF2 Hs.112998 1696946 RH101945 C10orf49;GRP;GRP/UCMA Gla-rich protein;OTTHUMP00000043627;unique cartilage matrix-associated protein protein-coding ENSG00000165623 HGNC:25205 12578 PROVISIONAL 1349219 UCN urocortin This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq, Jul 2008] 2 2 2 p23-p21 27377369 27378234 - 27530265 27531130 - 27307397 27308262 - 1580792;1580863;1642796;1642774;1642775;1642781;1642783;1642782;5147387;5508315;5490987;5508188;5490589;6480464;8554872 11087261;14577573;15806110;16125201;16427607;16484629;16915033;17932219;19572944;19808377;21330446;21362449 10341863;10422876;10690896;11150640;11238533;11329063;11416224;11788672;11836334;12010647;12111693;12175707;12477932;12519893;12535698;14519439;14576187;14764822;15072543;15489334;15784504;15815621;15924674;16340217;16675846;16698078;16920724;17154253;17597629;18234674;18329817;18443956;18670748;19086053;19437022;19619932;19703147;19893766;19949969;19961889;20363214;20368512;20468064;20480172;20670842;21289256;21360527;22639902;23128233;23416839;23801677;23803006;23846219;23987517;24012814;24290358;861256;8612563;8612576;9360550;9423932;9467598;9622018;9628819 7349 P55089 ABBA01045201;AC013413;AF038633;AMYH02003476;BC104470;BC104471;CH471053;CR542244;NG_033055;NM_003353 AAC24204;AAI04471;AAI04472;AAY24297;CAG47040;EAX00605;NP_003344;P55089 Hs.534363 1648785;1664646;1698956;1767837;1798106;2149877;5492767;5493491;5494033 G19419;RH103047;RH70909;RNF30_1941;STS-X76538;UniSTS:480764;UniSTS:482408;UniSTS:486845;WI-18702 MGC129974;MGC129975;UI;UROC OTTHUMP00000122583;prepro-urocortin;urocortin, preproprotein APPROVED protein-coding HGNC:12516 02970 600945 REVIEWED 1348669 UCN2 urocortin 2 This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 48554893 48556936 - 48599151 48601201 - 48561718 48563768 - 1580863;5147387;5508308;5131259;5508437;5508210;6480464;8554872 12076554;16026900;16484629;17586086;19204182 11226328;11329063;11416224;12477932;12615952;14519439;14592950;15476935;15489334;16223946;16476507;16626608;17074339;19417223;20368512;20616367;20670842;21360527;21454316;22000474;23128233;23493376;23850799;24107226;24249730;24291344 90226 Q96RP3 ABBA01024644;AC121252;AC134772;AF320560;AMYH02006722;BC002647;BC022096;CH471055;NM_033199 AAH02647;AAH22096;AAK52672;ABM82016;ABM85198;EAW64891;NP_149976;Q96RP3 Hs.631914 1675381;1744059 GDB:384986;RH80100 SRP;UCN-II;UCNI;UR;URP;ucn II OTTHUMP00000164814;prepro-urocortin 2;stresscopin-related peptide;urocortin II;urocortin-2;urocortin-related peptide APPROVED protein-coding ENSG00000145040 HGNC:18414 16171 605902 REVIEWED 1342858 UCKL1 uridine-cytidine kinase 1-like 1 ENCODES a protein that exhibits ATP binding (inferred); uridine kinase activity (inferred); INVOLVED IN CTP salvage (inferred); phosphorylation (inferred); UMP salvage (inferred); PARTICIPATES IN pyrimidine metabolic pathway; FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; formaldehyde; hydrogen peroxide 20 20 20 q13.33 59255043 59274434 - 62571182 62587800 - 63939829 63956447 - 1580863;6480464;6907045 11780052;12199906;12477932;14702039;15489334;16344560;16709802;16964243;18029348;19653100;21906983;21963094;22505724;23535732;23891004;8125298 54963 Q53HM1;Q5JWV1;Q9H3Z3;Q9NWZ5 ABBA01021433;ABBA01021434;AJ605558;AK000524;AK222559;AK223220;AK301602;AK303688;AL118506;AMYH02037476;BC033078;CH471077;DB193745;DC379603;HC893601;HC896352;HC910552;NM_001193379;NM_017859;XM_005260216;XM_006723806;XM_006723807;XM_006723808;XM_006723809;XM_006723810;XM_006723811;XM_006723812;XM_006723813;XR_244120;XR_244121;XR_430299;XR_430300;XR_430301;XR_430302;XR_430303 AAH33078;BAA91230;BAD96279;BAD96940;BAH13521;BAH14018;CAE54074;CBN61246;CBN62589;CBN69596;EAW75185;EAW75186;EAW75187;EAW75188;EAW75189;NP_001180308;NP_060329;Q9NWZ5;XP_005260273;XP_006723869;XP_006723870;XP_006723871;XP_006723872;XP_006723873;XP_006723874;XP_006723875;XP_006723876 Hs.504998 2114012;5491625 AB056405;MARC_26200-26201:1030734098:1 UCK1-LIKE;UCK1L;URKL1 OTTHUMP00000031603;uridine kinase-like 1;uridine-cytidine kinase-like 1 protein-coding ENSG00000198276 HGNC:15938 15607 610866 VALIDATED 1352070 UCN3 urocortin 3 This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq, Jul 2008] 10 10 10 p15.1 5339562 5339918 + 5406976 5416169 + 5365013 5374206 + 1580863;5147387;6480464 16484629 11329063;11416224;12477932;12615952;14519439;14764822;15070962;15476935;15489334;15949638;16095756;16626608;17074339;17207965;18504423;19351656;20368512;20616367;21360527;21454316;22000474;23349753 114131 Q969E3 ABBA01035197;AF361943;AL683826;AMYH02022040;AY026949;BC069530;BC100867;BC100868;BC100869;BC100870;BM310953;BQ776877;BQ778217;NM_053049 AAH69530;AAI00868;AAI00869;AAI00870;AAI00871;AAK11729;AAK67317;ADQ32879;NP_444277;Q969E3 Hs.511775 2220394 UniSTS:481292 MGC119002;SCP;SPC;UCNIII OTTHUMP00000018999;prepro-urocortin 3;stresscopin;ucn III;urocortin III;urocortin-3 2289527 BW436_H APPROVED protein-coding HGNC:17781 12066 605901 REVIEWED 733510 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009] 4 4 4 p14 41702199 41713746 + 41258898 41270446 + 41256881 41268429 + 1580538;1302547;1302546;1580863;1300048;1302562;1302872;5490154;6480464;6907045;7240710;8554872;8699517 10471497;11555633;14556719;14722078;18836575;9774100 10048490;10203348;10454131;11027850;11502942;11535241;11603807;11716150;12032852;12082530;12123845;12160938;12210873;12408865;12477932;12539205;12705903;12775255;12784265;1286667;12913066;14702039;15048890;15194490;15214825;15221445;15228595;15342556;15489334;15716245;15882803;16007636;16027165;16130169;16169070;16177983;16316632;16369839;16371654;16380264;16402389;16450370;16537382;16626667;16642472;16644676;16698101;16888648;16941465;17108109;17144664;17200335;17259170;17287139;17599367;17676665;17690318;17925890;17929277;17994469;18029348;18093156;18250096;1840236;18411255;18494032;1849484;18499164;18512240;18543214;18550537;18635949;18638528;18666234;18820707;18841579;18949367;18950315;19017757;19035297;19141079;19224617;19261853;19329225;19343046;19477270;19488775;19535597;19536331;19615732;19683447;19707515;19734545;19859801;19864305;19945429;19950834;20029029;20051117;20104524;20147297;20160478;20231490;20301402;20302621;20302855;20381070;20395212;20439756;20524204;20574456;20608941;20622874;20639865;20646535;20713032;20861575;20949132;20980462;21044950;21139048;21251915;21268678;21309726;21315600;21319273;21345711;21426768;21428722;21504384;21565611;21626562;2163617;21693148;21702960;21706495;21878121;21890473;21906983;21999842;22001920;22022780;22028813;22038515;22053931;22076440;22118674;22246902;22279545;22284438;22503729;22626734;22641175;22660851;22688354;22726800;22839974;22849656;22883340;22920679;22931063;22932395;22939629;23061666;23158209;23291960;23297343;23315218;23359680;23392373;23484054;23490535;23499448;23543736;23555160;23603559;23664488;23686552;23717208;23801757;23820422;23959334;23996067;24080464;24086249;24090154;24314660;24763515;24980434;2532544;2947814;6343558;8471161;8639624;8671330;9435142;9521656;9790970 7345 D6R956;D6R974;D6RE83;D6RF53;D6RJD9;P09936;V9HW74 AB209038;ABBA01014261;AC095043;AK054579;AK315368;AMYH02009095;BC000332;BC005117;BC006305;BC018838;BP202166;CH471069;FJ224355;NG_012931;NM_004181;X04741;X17377 AAH00332;AAH05117;AAH06305;AAY40923;ABM82924;ABM86114;ACI46047;BAD92275;BAG37761;BAG51393;CAA28443;CAA35249;EAW92978;EAW92979;EAW92980;EAW92981;EAW92982;EAW92983;NP_004172;P09936 Hs.518731 2132778;2160459 SHGC-59749;SHGC-67809 HEL-117;PARK5;PGP 9.5;PGP9.5;PGP95;Uch-L1 NDGOA;OTTHUMP00000125219;OTTHUMP00000218137;OTTHUMP00000218139;OTTHUMP00000218140;OTTHUMP00000218141;epididymis luminal protein 117;neuron cytoplasmic protein 9.5;ubiquitin C-terminal hydrolase;ubiquitin carboxy-terminal hydrolase l1;ubiquitin carboxyl-terminal hydrolase isozyme L1;ubiquitin thioesterase L1 APPROVED protein-coding ENSG00000154277 HGNC:12513 01877 191342;613643;615491 REVIEWED 1313432 UCHL5 ubiquitin carboxyl-terminal hydrolase L5 ENCODES a protein that exhibits endopeptidase inhibitor activity; poly(A) RNA binding; proteasome binding; INVOLVED IN negative regulation of endopeptidase activity; protein deubiquitination; regulation of proteasomal protein catabolic process; PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; FOUND IN cytosol; Ino80 complex; nucleus; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; arsenous acid 1 1 1 q32 166094514 166138132 - 192981496 193029237 - 193012366 193060107 - 1580863;6480464;9495926 21502417 10810093;10931946;11163772;12477932;12938929;14702039;15489334;15840729;16027725;16196087;16344560;16402389;16501559;16710414;16906146;16990800;17139257;17323924;17643375;17721549;18029348;18162577;18781797;18922472;19013454;19193609;19471022;19615732;19836345;20471946;20634424;21139048;21282530;21287580;21303910;21668797;21800051;21832049;21890473;21906983;21963094;21987572;21995438;22053931;22118674;22284438;22505724;22615012;22626734;22863883;22939629;23105109;23220010;23438482;23455924;24319254;24654937;24752541;24811749;24816145;8125298 51377 B4DW59;B7Z9U9;H0Y4E0;H0Y4K0;H0Y636;H0Y6Y4;Q5LJA5;Q5LJA9;Q5LJB0;Q5LJB1;Q9Y5K5 ABBA01027636;AF147717;AF151828;AF157320;AK024751;AK123655;AK225794;AK296487;AK301381;AK314445;AK316064;AL136370;AMYH02002381;BC015381;BC015521;BC025369;BI548319;BT006790;CH471067;DA255130;NM_001199261;NM_001199262;NM_001199263;NM_015984;NR_037607;XM_005245244;XM_005245245;XM_005245246;XM_005245247;XM_005245248;XM_005245249;XM_006711366;XM_006711367;XM_006711368;XM_006711369;XM_006711370;XM_006711371;XM_006711372;XM_006711373 AAD31528;AAD34065;AAF67486;AAH15521;AAH25369;AAP35436;ADZ15876;BAG37054;BAG59125;BAG62921;BAH14435;EAW91233;EAW91234;EAW91235;EAW91236;EAW91237;EAW91238;NP_001186190;NP_001186191;NP_001186192;NP_057068;Q9Y5K5;XP_005245301;XP_005245302;XP_005245303;XP_005245304;XP_005245305;XP_005245306;XP_006711429;XP_006711430;XP_006711431;XP_006711432;XP_006711433;XP_006711434;XP_006711435;XP_006711436 Hs.145469 1665608;1675537;1789010;1854372;2108629 G65637;RH91900;SHGC-76064;UCHL5_8042;WI-14924 CGI-70;INO80R;UCH-L5;UCH37 INO80 complex subunit R;OTTHUMP00000033565;OTTHUMP00000033566;OTTHUMP00000033567;OTTHUMP00000033568;OTTHUMP00000033570;OTTHUMP00000033571;OTTHUMP00000033754;ubiquitin C-terminal hydrolase UCH37;ubiquitin carboxyl-terminal esterase L5;ubiquitin carboxyl-terminal hydrolase isozyme L5;ubiquitin thioesterase L5 protein-coding ENSG00000116750 HGNC:19678 10293 610667 VALIDATED 1602230 UCK2 uridine-cytidine kinase 2 This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010] 1 1 1 q23 138902284 138982715 + 165796732 165880855 + 165827495 165911618 + 2317214;5133269;6480464;6907045 12149149;221781 11306702;11494055;12199906;12477932;12665801;12876357;15130468;15280220;15489334;16196087;16484797;16710414;17613536;18051367;18781797;19064610;19483681;19532987;19536175;20972266;21139048;21890473;21906983;21963094;21987572;22053931;22268729;22505724;22939629;23000965;23462292;23666239;23666240;24797263;25027693;8812458;8889548 7371 B4DGD3;Q9BZX2 AB062451;ABBA01047272;ABBA01047273;AF236637;AK294537;AK309739;AL358115;AL451074;AMYH02002069;AMYH02002070;BC002906;BM714864;BT006860;CH471067;CR456857;D78335;DR762696;HC893721;HC896472;HC910672;NM_012474 AAH02906;AAK14053;AAP35506;BAA11349;BAB56162;BAG57744;CAG33138;CBN61306;CBN62649;CBN69656;EAW90767;EAW90768;EAW90769;NP_036606;Q9BZX2 Hs.458360 1339236;1651513;1658504;1663480;1678589;1692410;2129698;2141082;2141084;2164191;5126049 A002B18;AL009583;AL009830;AL033853;D1S1625;G15718;G19886;RH64600;RH79046;RH80936;SHGC-35183 DKFZp686M04245;TSA903;UCK 2;UK;UMPK OTTHUMP00000038005;cytidine monophosphokinase 2;testis-specific protein TSA903;uridine kinase;uridine monophosphate kinase;uridine monophosphokinase 2 APPROVED protein-coding HGNC:12562 01882 609329 REVIEWED 1605360 UEVLD UEV and lactate/malate dehyrogenase domains ENCODES a protein that exhibits oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (inferred); INVOLVED IN cellular carbohydrate metabolic process (inferred); cellular protein modification process (inferred); oxidation-reduction process (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH benzo[a]pyrene diol epoxide I; paracetamol; torcetrapib 11 11 11 p15.1 18688875 18745155 - 18551156 18610293 - 18529609 18588746 - 6480464 12427560;12477932;14702039;15489334;19056867;19549727;21139048;21890473;21906983;23000965;23314748;8889548;8889549 55293 A8MYV4;B4DIA9;B4DWH4;Q8IX04 AA160640;ABBA01061051;ABBA01061052;ABBA01061053;AC027544;AC112694;AF503350;AK001930;AK295501;AK296835;AK301537;AK314521;AK316191;AL134932;AMYH02024400;BC011011;BC064566;BM994955;BU633352;CB991602;CD109744;CD369413;CF138618;CH471064;NM_001040697;NM_001261382;NM_001261383;NM_001261384;NM_001261385;NM_001261386;NM_001297771;NM_018314;XM_005253001;XM_006718255 AAH11011;AAH64566;AAN32950;BAA91985;BAG37116;BAG58421;BAG59405;BAG63036;BAH14562;EAW68376;EAW68377;EAW68378;EAW68379;EAW68380;NP_001035787;NP_001248311;NP_001248312;NP_001248313;NP_001248314;NP_001248315;NP_001284700;NP_060784;Q8IX04;XP_005253058;XP_006718318 Hs.407991 1340928;1664723;1759469;2125242;5015961;5017625;5109663;7185203 D11S4096;D11S955E;D15S1477;D7S2067E;SHGC-151201;STS-M78353;UEVLD ATTP;FLJ11068;UEV-3;UEV3 EV and lactate/malate dehydrogenase domain-containing protein;OTTHUMP00000236663;OTTHUMP00000236664;OTTHUMP00000236665;OTTHUMP00000236666;OTTHUMP00000236667;OTTHUMP00000236669;signaling molecule ATTP;ubiquitin-conjugating enzyme E2 variant 3;ubiquitin-conjugating enzyme E2-like protein-coding ENSG00000151116 HGNC:30866 15608 610985 VALIDATED 1604819 UFC1 ubiquitin-fold modifier conjugating enzyme 1 UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008] 1 1 1 q23.3 134190687 134195799 + 161123534 161128646 + 161153744 161158856 + 6480464 10810093;11042152;12477932;15071506;15489334;17353931;19056867;19101823;20164180;20562859;21139048;21890473;22939629;23000965;24726913;24816145;24966333;8889548 51506 Q9Y3C8 AB154405;ABBA01016596;AF151884;AF161504;AK292776;AL590714;AMYH02002032;AX888048;AX888049;BC005187;CF128121;CH471121;NM_016406;XM_005245254 AAD34121;AAF29119;AAH05187;ABM84087;ABM87456;BAD15374;BAF85465;CAE93973;CAE93974;EAW52646;EAW52647;NP_057490;Q9Y3C8;XP_005245311 Hs.301412 1683098;2174574;2174576;2175448 A002D06;D1S3338;G19947;RH75 HSPC155 OTTHUMP00000031885;Ufm1-conjugating enzyme 1;ubiquitin-fold modifier-conjugating enzyme 1 APPROVED protein-coding ENSG00000143222 HGNC:26941 15643 610554 VALIDATED 733835 UCP3 uncoupling protein 3 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008] 11 11 11 q13.4 71018129 71027086 - 73711326 73720282 - 74000281 74009237 - 1580795;737762;1331525;1625189;1580863;1643130;737802;2313502;2313515;2313522;2313523;2313524;2313630;2313513;2313514;2313517;2313528;2313516;2302404;2313506;2313511;2313512;2313518;2313520;2313521;2313535;2313519;2313526;2313629;6480464;7240710;7204424;8554872 10748195;10868941;10935638;10994754;11126413;11484089;11587528;11723073;12079841;12145158;12659879;14673524;15118671;15356383;15910756;16373902;17012607;17571165;17587402;17704287;17786284;17870627;18223008;18249216;18678617;19526854;20809120;9700198;9769326 10329378;10620491;10748196;10772343;10785390;10958796;11151767;11238538;11319649;11683368;11842047;11875702;11920154;11994670;12051710;12075570;12145475;12170470;12217879;12351640;12395215;12477932;12612210;12634927;12670931;12720538;12734183;12756473;12824081;12843208;14671191;14702039;14708035;15045692;15120704;15211595;15346230;15489334;15496137;15520825;15564896;15870396;15959859;15978856;16006788;16046300;16178820;16215931;16337086;16344560;16352674;16622580;16631432;16644712;16741147;16752430;16966355;17150099;17351641;17502873;17512314;17544366;17676309;17728536;17786291;18059082;18167556;18191161;18305572;18348082;18426825;18426866;18484143;18648851;18660489;18676680;18755175;18825612;18924534;18956255;18996102;19039313;19056482;19056576;19073146;19155787;19170196;19336475;19369366;19413708;19468707;19491387;19578796;19625176;19653005;19680556;19692168;19710539;19753844;19769793;19876004;19913121;19913848;19948975;20031128;20186155;20416077;20468064;20538960;20628086;20679960;20694293;20734064;20802238;20877624;21047682;21074158;21175267;21336965;21544083;21613221;21751002;21775425;21897112;22241057;22774401;22811361;23165529;23266187;23333304;23365654;23412863;23505621;23521650;23560041;23639961;24124336;24174365;9180264;9196039;9305858;9325252;9480760;9498661 7352 F5H3N5;P55916 ABBA01017497;AF001787;AF011449;AF012202;AF026958;AF032871;AF050113;AF127916;AK092685;AK290630;AK291889;AK309873;AMYH02025102;AP003717;AW295096;BC008392;BU618868;CH471076;DA876282;NG_011515;NM_003356;NM_022803;U82818;U84763 AAC18822;AAC51356;AAC51367;AAC51369;AAC51767;AAC51785;AAG02284;AAH08392;BAF83319;BAF84578;BAG52595;EAW74925;EAW74926;EAW74927;NP_003347;NP_073714;P55916 Hs.101337;Hs.621879 1667390;1852873;2153053;2165526;5022704 D11S2233E;D11S2239E;D11S2240E;RH65723;UCP3 SLC25A9;UCP 3 OTTHUMP00000237951;OTTHUMP00000237952;Uncoupling protein-3;mitochondrial uncoupling protein 3;solute carrier family 25 member 9;uncoupling protein 3 1643371;2289505;2289508 BW329_H;BW447_H;BW452_H APPROVED protein-coding ENSG00000175564 HGNC:12519 03623 601665;602044 REVIEWED 1319587 UFL1 UFM1-specific ligase 1 ENCODES a protein that exhibits UFM1 conjugating enzyme activity; INVOLVED IN negative regulation of NF-kappaB transcription factor activity; negative regulation of protein ubiquitination; osteoblast differentiation; FOUND IN cytoplasm; endoplasmic reticulum; membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; calcitriol; cyclosporin A 6 6 6 q16.1 97611468 97644919 + 96969702 97003152 + 96521826 96555276 + 6480464 12477932;14574404;15302935;15342556;15489334;16210410;17081983;17353931;18029348;20018847;20164180;20228063;20531390;21139048;21890473;23839039;24778252;24816145;9872452 23376 O94874 AB018319;ABBA01014524;ABBA01014525;AJ420579;AK295934;AK307651;AK316453;AL132776;AL590404;AMYH02014158;BC015377;BC028608;BC036379;BP337693;CH471051;NM_015323 AAH15377;AAH28608;AAH36379;BAA34496;BAG58719;BAH14824;EAW48506;EAW48507;EAW48508;NP_056138;O94874 Hs.149367 2127731;2170916;5016801;5110728 RH70749;RH78851;RH98509;SHGC-36141 KIAA0776;NLBP;RCAD;RP3-393D12.1 E3 UFM1-protein ligase 1;LZAP-binding protein;Maxer;OTTHUMP00000016878;Regulator of CDK5RAP3 and DDRGK1;novel LZAP-binding protein APPROVED protein-coding ENSG00000014123 HGNC:23039 11109 613372 VALIDATED 5687332 UFL1-AS1 UFL1 antisense RNA 1 q16.1 100861530 AL021367;AL590404;BM126999;BM127608 Hs.571077 APPROVED ncrna HGNC:41007 1350578 UFS urofacial syndrome ASSOCIATED WITH Urofacial syndrome (inferred) 7240710 9199567 7354 HGNC:12521 236730 732948 UFD1L ubiquitin fusion degradation 1 like (yeast) The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009] 22 22 22 q11.21 3289721 3318998 - 19437464 19466818 - 19449941 19479295 - 1580803;1580804;1358598;1580863;6480464;6907045 10024240;11485030;11496370 11076863;11574150;11979512;12477932;12910480;15215856;15371428;15461802;15489334;15489336;16004872;16234241;16322459;16341674;16381901;16525503;16712791;16822850;17331469;17502376;17550899;17681147;17872946;18199748;18270977;18544348;18586029;18624398;18775313;18781797;19275885;19615732;19818707;20414249;20442859;20471029;20634891;20702414;20876349;21139048;21486945;21571647;21890473;21900206;21906983;21914798;21963094;21987572;22053931;22505724;22763378;22863883;22939629;23000965;23042607;23293021;23314748;23333620;23443559;23623450;23798571;24019527;24089527;24248593;24429874;24457600;24811749;24816145;8125298;9063746;9540831 7353 C9IZG3;C9J6N9;C9J7C8;C9JNP9;Q541A5;Q92890 ABBA01005411;AC000068;AC000087;AF141201;AJ239058;AK128120;AK225877;AK304734;AK308786;AK310950;AK315998;AMYH02038041;AW131352;AY101594;BC001049;BC005087;BM761958;BX648374;BX648483;CB128364;CH471176;CR456607;DB496066;DB570679;NM_001035247;NM_005659;U64444;XM_005261276;XM_005261277;XM_006724319 AAD08720;AAD28788;AAH01049;AAH05087;AAM48288;BAG65495;BAH14369;CAC20414;CAG30493;CAK54634;CAK54933;CAL37746;EAX03037;EAX03038;NP_001030324;NP_005650;Q92890;XP_005261333;XP_005261334;XP_006724382 Hs.474213 1687133;1851500;2112440;2112446;5015861;5016781;5024605;5037552;7185938 D10S16;D18S1297;D22S1632;D22S1634;D8S2279;RH18339;RH75489;SHGC-67307 UFD1 OTTHUMP00000196377;OTTHUMP00000196400;OTTHUMP00000208104;OTTHUMP00000208105;UB fusion protein 1;ubiquitin fusion degradation 1-like;ubiquitin fusion degradation protein 1 homolog APPROVED protein-coding ENSG00000070010 HGNC:12520 06778 601754 REVIEWED 1604425 UFSP1 UFM1-specific peptidase 1 (non-functional) This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009] 7 7 7 q22.1 95216925 95217920 - 100486344 100487339 - 100888723 100889718 - 6480464;8554872 11239002;12477932;12690205;15489334;16344560;17182609;18321862;20639392;22990020;24250222 402682 Q6NVU6 ABBA01013176;AC011895;AF312032;AK292467;AMYH02016392;BC017456;BC067904;CH236956;DB073745;NG_007474;NM_001015072 AAH67904;AAK21004;BAF85156;EAL23814;NP_001015072;Q6NVU6 Hs.534845 1667972;1769989;2157266 GDB:4585547;RH17909;STS-M55040 UFSP OTTHUMP00000216135;inactive Ufm1-specific protease 1 APPROVED protein-coding ENSG00000176125 HGNC:33821 18630 611481 VALIDATED 1344837 UFM1 ubiquitin-fold modifier 1 UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008] 13 13 13 q13.3 19977744 19990945 + 38923942 38937143 + 38349771 38363007 + 6480464 11042152;11483580;12477932;14702039;15057823;15071506;15146197;15342556;15489334;16344560;16527251;17353931;19322201;19690564;20018847;20562859;21139048;21304510;21890473;21900206;22863883;22939629;23000965;23152784;24726913;24966333;8889548 51569 H0Y614;P61960 AB154404;ABBA01021324;AF208844;AF369953;AK095490;AK307111;AK309914;AL356863;AL515797;AMYH02027891;BC005193;BG533062;BG540094;BG717690;BI458294;BI761948;BM683574;BP277186;BQ002588;BU069122;BU589105;CB070175;CH471075;CN362375;CR457189;DA448931;DA483023;NM_001286703;NM_001286704;NM_001286705;NM_001286706;NM_016617;NR_104584;NR_104585;Z70222 AAF64258;AAH05193;ADZ15666;BAD15373;CAA94181;CAG33470;EAX08605;NP_001273632;NP_001273633;NP_001273634;NP_001273635;NP_057701;P61960 Hs.643655 1682780;2119924;2123738 NIB712;RH26802;STS-Z70222 BM-002;C13orf20;bA131P10.1 OTTHUMP00000018797;OTTHUMP00000018801 APPROVED protein-coding HGNC:20597 15644 610553 VALIDATED 1605068 UFSP2 UFM1-specific peptidase 2 Like ubiquitin (see MIM 191339), ubiquitin-fold modifier-1 (UFM1; MIM 610553) must be processed by a protease before it can conjugate with its target proteins. UFSP2 is a thiol protease that specifically processes the C terminus of UFM1 (Kang et al., 2007 [PubMed 17182609]).[supplied by OMIM, Oct 2009] 4 4 4 q35.1 183646881 183673344 - 186320691 186347139 - 185399540 185425985 - 6480464;8554872 10737800;12358155;12477932;14702039;15342556;15489334;16344560;17182609;21906983;22990118;24816145 55325 B3KRI4;D6R9J7;D6RA67;D6RB53;D6RGX2;H0Y9B0;H0YA18;Q9NUQ7 ABBA01070532;AC106897;AK002062;AK091635;AMYH02010662;BC010493;BF735169;BP264462;CA432183;CH471056;CR457278;DA537391;NM_018359;NR_028085 AAH10493;BAA92064;BAG52396;CAG33559;EAX04645;EAX04646;NP_060829;Q9NUQ7 Hs.713548 1649687;1651574;1666840;2128602;2140739;2154509 RH16586;SHGC-25085;SHGC-33599;SHGC-67400;SHGC-68105;WI-14754 C4orf20;FLJ11200 OTTHUMP00000218200;OTTHUMP00000218202;OTTHUMP00000218203;ufm1-specific protease 2 APPROVED protein-coding HGNC:25640 07741 611482 VALIDATED 1349188 UGCG UDP-glucose ceramide glucosyltransferase Glycosphingolipids (GSLs) are a group of membrane components that contain lipid and sugar moieties. They are present in essentially all animal cells and are believed to have important roles in various cellular processes. UDP-glucose ceramide glucosyltransferase catalyzes the first glycosylation step in glycosphingolipid biosynthesis. The product, glucosylceramide, is the core structure of more than 300 GSLs. UGCG is widely expressed and transcription is upregulated during keratinocyte differentiation. [provided by RefSeq, Oct 2009] 9 9 9 q31 85158191 85194369 + 114659206 114697649 + 111896926 111935369 + 1580863;6480464;6907045 10945987;11335714;11915344;12477932;12489486;12873973;14766899;15263008;1533793;15489334;15661399;15747776;16500619;17709137;18155680;18560890;19693666;20533270;20540746;20843709;21278235;21380926;21558327;21617856;21756066;21832049;21890473;22270805;22936806;23133636;23555901;23913449;24342307;24456584;24510559;8643456;8901638;9545298;9605861 7357 Q16739 ABBA01042720;AJ420423;AK314847;AL442066;AMYH02021480;BC038711;CH471105;D50840;NM_003358;XM_005252186 AAH38711;ADZ15740;BAA09451;BAG37364;EAW59091;EAW59092;NP_003349;Q16739;XP_005252243 Hs.304249;Hs.593014 1661341;1700244;2163610 RH103739;RH11495;RH68280 GCS;GLCT-1;GLCT1 OTTHUMP00000021925;UDP-glucose:N-acylsphingosine D-glucosyltransferase;ceramide glucosyltransferase;glucosylceramide synthase APPROVED protein-coding HGNC:12524 04190 602874 REVIEWED 6483987 UGDH-AS1 UGDH antisense RNA 1 4 4 p 39529459 39596327 + 39527839 39594707 + 14702039;16344560 100885776 ABBA01004126;ABBA01004127;AC021148;AC105427;AK056558;AMYH02009055;AMYH02009056;DA042578;KF457757;NR_047679 Hs.640769 5015615;5019072;5020423;5118342 D11S1053;D11S3076;D11S3206;G44369 FLJ31996 APPROVED ncrna ENSG00000249348 HGNC:40601 VALIDATED 69170 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008] 11 11 11 q13 70992461 71000634 - 73685716 73693889 - 73974671 73982844 - 1580793;1580794;737760;737759;737761;1580863;1643130;2313516;2313525;2313630;2313528;2313517;2302404;2313512;2313501;6480464;6484113;7175295;7175296;7175297;7175299;7175309;7175312;7175313;7175298;7175300;7204434;7204436;7204431;7204428;7204424;7204423;7204426;7204429;7204435;7240710;8554872 10382588;11101840;11381268;11440717;11587528;12858170;15106800;15356383;15604415;15910756;16373902;17704287;17870627;18242170;18308829;18344121;18543254;19104935;19227473;19406964;19526854;19632092;19772611;20193183;20404217;20809120;21114362;21190599;21272461;21359922;22195248;22848482 10027754;10082652;10620491;10772343;10785390;11466580;11713718;11780125;11904148;11920154;11935148;11994670;12030845;12075579;12145158;12355400;12385772;12395215;12401727;12477932;12670931;12690079;12716765;12720538;12734183;12746756;12787871;12797456;12855674;12912909;12915397;12960023;14627764;14659466;14693721;14730379;14747301;14759071;14974928;15016641;15039126;15045692;15061987;15120704;15149891;15165610;15192823;15220218;15308133;15448008;15475368;15489334;15520825;15527803;15562023;15564896;15634780;15827742;15833942;15905464;15951317;15959859;15985484;16021520;16054055;16167150;16282353;16562813;16567833;16622580;16644712;16741267;16806233;16845607;16982633;17052689;17066476;17130180;17170091;17240372;17242157;17316620;17342078;17351641;17397545;17462780;17463068;17502873;17512314;17544366;17555951;17570749;17601350;17666355;17701054;17718790;17894153;17985659;18006489;18018477;18031357;18059082;18167556;18192542;18223008;18301352;18301432;18305572;18413749;18426866;18460338;18496642;18593920;18660489;18720901;18755175;18839467;18846338;18924534;18940651;18956255;18977241;18996102;19039313;19056482;19056576;19065272;19137581;19140314;19155787;19336475;19368944;19387457;19413708;19420105;19491387;19527523;19531977;19556617;19578796;19653005;19659999;19680556;19681913;19727213;19753844;19760975;19769793;19833146;19846869;19876004;19889414;19895332;19908126;19913121;19946892;19948975;19950601;20056920;20142250;20145583;20301549;20332018;20359253;20384434;20416077;20427509;20468064;20538960;20595066;20602615;20608355;20628086;20734064;20802238;20804304;20813684;20877624;20937264;21029457;21074158;21128330;21175267;21254885;21266666;21340542;21374988;21557918;21584501;21613221;21666788;21720911;21751002;21873561;21883184;21935467;22001364;22070905;22085932;22134120;22241057;22266335;22292025;22349573;22490607;22524567;22533685;22568573;22613561;22634308;22733179;22807616;22847181;22995745;23008094;23033381;23068098;23069211;23088537;23088859;23101559;23147265;23266187;23314523;23365654;23412863;23432701;23434936;23505621;23521650;23537071;23560041;23621569;23639961;23988448;24041971;24065674;24141050;24142693;24304655;24395786;24440978;24741957;24853548;8125298;9054939;9133562;9180264;9196039;9559644;9568704 7351 F5GX45;F5H312;H0YFQ0;H0YFR8;P55851 ABBA01017499;AF019409;AF096289;AF132536;AJ223477;AJ223479;AK025742;AK222540;AK222557;AMYH02025101;AP003717;BC011737;CH471076;DQ087219;NG_011478;NM_003355;U76367;U82819;U94592 AAB48411;AAB53091;AAC39690;AAC51336;AAD21151;AAH11737;AAY68217;ABM84224;ABM87735;BAD96260;BAD96277;CAA11402;EAW74923;EAW74924;NP_003346;P55851 Hs.80658 1298235;1298267;1794058;1794060;2113978;2140211 D11S1998;D11S4464;PMC310777P17;PMC310777P18;UCP2;WI-13873 BMIQ4;SLC25A8;UCP 2;UCPH OTTHUMP00000237900;OTTHUMP00000237901;mitochondrial uncoupling protein 2;solute carrier family 25 member 8;uncoupling protein 2 1643371;2289505;2289508 BW329_H;BW447_H;BW452_H APPROVED protein-coding HGNC:12518 03410 601693;607447 REVIEWED 1349115 UGP1 UDP-glucose pyrophosphorylase 1 7359 HGNC:12526 1343925 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] 2 2 2 q14.3 122144568 122259888 + 128848754 128953251 + 128091180 128195677 + 1580863;6480464;6907045;8554872 10694380;11278576;12477932;12682060;12913004;14702039;15342556;15489334;16344560;17353931;18303019;19199708;19466607;20498017;21139048;21145461;21890473;21903422;22190034;22268729;22337587;22586326;22863883;22939629;22990118;23349634;23443559;24639526;24816145 56886 E2QRN8;F8WCE6;F8WCI2;H7BZG0;Q9NYU2 ABBA01040177;ABBA01040178;ABBA01040179;ABBA01040180;ABBA01040181;AC017079;AC108059;AF227905;AK023240;AK023671;AK074251;AK074376;AK293066;AK309101;AMYH02004744;AMYH02004745;AMYH02004746;BC041098;BC047727;BP356698;CH471103;DB226703;KF456704;NM_020120;NR_027671;XM_006712634;XM_006712635;XM_006712636 AAF66232;AAH41098;AAY14735;AAY14885;BAB14632;BAF85755;EAW95356;NP_064505;Q9NYU2;XP_006712697;XP_006712698;XP_006712699 Hs.743306 1650997;1680174;1700102;1708338;1721023;1721541;1779086;1851121;1852253;2122764;2134902;2177025;5014023;5015619;5015861;5016478;5016596;5020946;5020948;5022450;5022578;5022651;5037552;5109281;5124424;5492001;7185938 D10S16;D10S275;D11S2921;D11S3114;D13S1553;D1S1423;D1S1425;D2S1298;D2S1814;D2S2609;D8S2279;G35510;G59493;G59775;GDB:434012;GDB:631802;L17971;RH103664;RH48723;RH92594;RH92738;SHGC-16167;SHGC-81099;UGCGL1;WI-12634;WI-18004 FLJ21763;FLJ23671;FLJ23796;HUGT1;UGCGL1;UGT1 OTTHUMP00000162311;UDP--Glc:glycoprotein glucosyltransferase;UDP-glucose ceramide glucosyltransferase-like 1;UDP-glucose:glycoprotein glucosyltransferase 1 APPROVED protein-coding ENSG00000136731 HGNC:15663 12064 605897 VALIDATED 1344583 UGT1A11P UDP glucuronosyltransferase 1 family, polypeptide A11 pseudogene 2 2 2 q37 228232814 228233659 + 234512199 234513040 + 233603553 233604394 + 10836148;16141793;17475008;20041166;9295054 54574 ABBA01001949;AC019072;AMYH02006011;NG_002601;U39551 1803214;1807384;1819346;1820078;1951396;1951398;1951400;1951402;1951404;1951406;1951408;1951410;1951412;1951414;1951416;1951418;1951534;2201222 ECD02499;ECD04663;ECD10740;ECD11112;REN46553;REN46554;REN46555;REN46556;REN46557;REN46558;REN46559;REN46560;REN46561;REN46562;REN46563;REN46564;REN46623;stSG620053 UGT1K pseudo ENSG00000227846 HGNC:12532 VALIDATED 1351683 UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] 13 13 13 q32.1 77301630 77553211 - 96453834 96705736 - 95801580 96053482 - 1580863;6480464;6907045;8554872 10694380;11278576;11991713;12477932;12913004;14702039;18303019;19615732;19851296;20198315;20379614;21832049;22268729;23097496;23349634;24250222 55757 A6NP03;E7EMU6;Q05D90;Q9NYU1 ABBA01027174;ABBA01027175;ABBA01027176;AF227906;AF339770;AK001735;AK021547;AL133051;AL136104;AL158192;AL162500;AL607038;AMYH02028525;AMYH02028526;AMYH02028527;AMYH02028528;AMYH02028529;AMYH02028530;AMYH02028531;BC017759;BC032302;BC067807;BC111021;BC125233;BC125234;CH471085;NM_020121 AAF66233;AAH17759;AAH32302;AAH67807;AAI11022;AAI25234;AAI25235;BAA91869;CAB61378;EAX08960;NP_064506;Q9NYU1 Hs.193226;Hs.656444 2159574;2166217;2183957 D13S1204;RH69766;STS-AA007696 FLJ10873;FLJ11485;HUGT2;MGC117360;MGC150689;MGC87276;UGCGL2;UGT2 OTTHUMP00000018568;UDP--Glc:glycoprotein glucosyltransferase 2;UDP-Glc:glycoprotein glucosyltransferase 2;UDP-glucose ceramide glucosyltransferase-like 1;UDP-glucose ceramide glucosyltransferase-like 2;UDP-glucose:glycoprotein glucosyltransferase 2 APPROVED protein-coding ENSG00000102595 HGNC:15664 12065 605898 VALIDATED 1348544 UGT1A12P UDP glucuronosyltransferase 1 family, polypeptide A12 pseudogene 2 2 2 q37 228214700 228215552 + 234494085 234494937 + 233585439 233586291 + 10836148;16141793;17952380;20041166;9295054 54573 ABBA01001949;AC019072;AMYH02006011;NG_002601;U39552 1813412;1813898;1814716;1951106;1951108;1951110;1951530;1951532;1951534;1951536;1951538;1951540;1951542;1951544;1951546;1951548;1951550;1951552;2201198;2201200 ECD07727;ECD07976;ECD08389;REN46405;REN46406;REN46407;REN46621;REN46622;REN46623;REN46624;REN46625;REN46626;REN46627;REN46628;REN46629;REN46630;REN46631;REN46632;stSG620041;stSG620042 UGT1L pseudo ENSG00000228949 HGNC:12533 VALIDATED 1603459 UGT1A13P UDP glucuronosyltransferase 1 family, polypeptide A13 pseudogene 2 2 2 q37 228277195 228278291 + 234556575 234557672 + 233647929 233649026 + 10836148;11434514 404204 ABBA01001949;AC019072;AF297093;AMYH02006011;NG_002601 1824440;1826806;1951104;1951106;1951108;1951110;1951112;1951114;1951116;1951118;1951120;1951122;1951536;2201246 ECD13318;ECD14518;REN46404;REN46405;REN46406;REN46407;REN46408;REN46409;REN46410;REN46411;REN46412;REN46413;REN46624;stSG620067 pseudo ENSG00000234143 HGNC:32191 VALIDATED 735821 UCP1 uncoupling protein 1 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008] 4 4 4 q28-q31 138811044 138819947 - 141481014 141489989 - 140559860 140568835 - 1624977;1624979;1624978;1580863;2313631;2313626;2313629;6480464;6907045;7240710;7247625 11317671;12659879;15120704;16338218;16953057;17635070;8968850 10620491;10772343;10805511;10999801;11439286;11466580;11572862;11780125;11994670;12029453;12032762;12075579;12084707;12119988;12375583;12395215;12477932;12565902;12732844;12756473;12910269;12951617;14671150;15281018;15355441;15489334;15536594;15815621;15865460;15955458;16084837;16132835;16180337;16373902;16896567;17242157;17397545;17516293;18059082;18068010;18305572;18370824;18660489;18720901;18755175;18955781;19056576;19076691;19367093;19420105;19474520;19491387;19567523;19578796;19730683;19753844;19806581;19895332;19913121;19943796;19948975;19966534;20416077;20468064;20622171;20628086;20709022;20734064;20802238;20803423;20877624;21189472;21355075;21530798;21827845;21878665;21959333;22075692;22260858;22277967;22391136;22676960;22750084;22764640;23032405;23043591;23134754;23266187;23454374;2380264;23824424;23906633;24059847;24086366;24138564;24196960;24342393;3165741;7951471;9054939;9119086;9398715 7350 P25874;Q4KMT7 ABBA01069981;AC108019;AMYH02010212;BC069556;BC096736;BC098168;BC098258;BC098352;CH471056;NG_012139;NM_021833;U28480;X51952;X51955;XM_005263206 AAA85271;AAH69556;AAH96736;AAH98168;AAH98258;AAH98352;AAY41026;CAA36214;EAX05095;NP_068605;P25874;XP_005263263 Hs.249211 1341573;1677889;1744083;1767047;1777640;2181682;5492045;7186805 D4S420;GDB:386145;SHGC-152690;SHGC-50226;SHGC-50806;SHGC4-1035;UCP1 SLC25A7;UCP;UCP 1 OTTHUMP00000164611;mitochondrial brown fat uncoupling protein 1;solute carrier family 25 member 7;thermogenin;uncoupling protein 1 1643249;1643293;2289563 BW135_H;BW197_H;BW441_H APPROVED protein-coding HGNC:12517 00221 113730;601665 REVIEWED 1320978 UGP2 UDP-glucose pyrophosphorylase 2 The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p14-p13 63913075 63963963 + 64068084 64118696 + 63840950 63891562 + 1580863;6480464;6907045 12054535;12107410;12477932;15489334;16169070;16189514;16501559;16713569;17207965;17353931;17474147;17482904;19056867;20300197;20514852;21139048;21319273;21890473;21906983;21988832;22132858;22863883;22939629;23000965;23254995;23503679;24816145;8354390;8612650;8631325 7360 C9J3M0;C9J6Q0;C9JNZ1;C9JQU9;C9JTZ5;C9JUW1;C9JVG3;C9JWG0;E7EUC7;F2Z3H1;F2Z3P4;F8WC70;F8WDA2;H7C500;Q16851 ABBA01075408;ABBA01075409;ABBA01075410;AC092588;AC114748;AF086113;AK300731;AK314263;AMYH02003959;AMYH02003960;AMYH02003961;BC000173;BC002954;BC047004;BX537559;BX647825;CA389301;CD516624;CH471053;NM_001001521;NM_006759;U27460;XM_005264537;XM_005264538;XM_006712088;XM_006712089;XR_426996 AAB05640;AAH00173;AAH02954;AAH47004;AAX93207;ADQ32826;BAG36928;BAG62404;EAW99953;EAW99954;EAW99955;EAW99956;EAW99957;NP_001001521;NP_006750;Q16851;XP_005264594;XP_005264595;XP_006712151;XP_006712152 Hs.516217 1696222;1701078;1765991;1769879;2108977;2124757;2142260;2150820;2150822;5016010;5119146 A006D30;D2S1659E;D2S1935E;G20727;NM_006759;RH104166;RH45595;SHGC-149387;SHGC-31592;SHGC-83575;UGP2_8704 UDPG;UDPGP;UDPGP2;UGP1;UGPP1;UGPP2;pHC379 OTTHUMP00000159899;OTTHUMP00000214361;OTTHUMP00000214362;OTTHUMP00000214363;UDP-glucose diphosphorylase;UDP-glucose pyrophosphorylase 1;UGPase 2;UTP--glucose-1-phosphate uridylyltransferase;UTP--glucose-1-phosphate uridylyltransferase 2;UTP-glucose-1-phosphate uridyltransferase;Uridyl diphosphate glucose pyrophosphorylase-1;uridyl diphosphate glucose pyrophosphorylase 2 APPROVED protein-coding ENSG00000169764 HGNC:12527 08934 191760 REVIEWED 1347706 UGT1A2P UDP glucuronosyltransferase 1 family, polypeptide A2 pseudogene 2 2 2 q37 228376373 228377805 + 234655785 234657186 + 233747139 233748540 + 10836148;11434514;1339448;16141793;17475008;19898482;9295054 54580 ABBA01001950;AC114812;AMYH02006011;M84126;NG_002601 1800878;1802814;1802970;1810944;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950630;2201358;2201360;2201362;2201374 ECD01304;ECD02295;ECD02375;ECD06470;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46167;stSG620125;stSG620126;stSG620127;stSG620133 UGT1BP pseudo ENSG00000228445 HGNC:12534 VALIDATED 1350018 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008] 2 2 2 q37 228389552 228402577 + 234668919 234681945 + 233760273 233773299 + 1600438;1600445;1600450;1580863;2315450;2301047;2315451;2315449;2316977;5129558;6480464;6482854;6482855;6482851;6482853;6482852;6482856;6482850;6907361;6907045;7240710;8552693;7364966;8554872;8699517 10498597;14620509;15254716;16019265;16339353;16609363;16637266;17353665;18349273;18674515;19250197;19299905;21993917;22094718;22170007;22398043;23462933;9497253;9841869 10412811;10706110;10748067;10836148;10946897;11013440;11061796;11141380;11156391;11179460;11370628;11401924;11434514;11465080;11764096;11827650;11855932;11857560;11878580;11906189;11915038;11968090;11987245;12036456;12078936;12105841;12139570;12151360;12185559;12357057;12402338;12439228;12477932;12480553;12480568;12499798;12502904;12566446;12602902;12646172;12677174;12680285;12695355;12732365;12732844;12743455;12800608;12850481;12850492;12909459;12925779;12960109;12969965;12972027;1339448;14550264;14555305;14586211;14616765;14647407;14672974;14871858;15007088;15049432;15111762;15179405;15180166;15247627;15280927;15286088;15297419;15304120;15318931;15319294;15319464;15320866;15388579;15455371;15472229;15491385;15519273;15523087;15557560;15560369;15572581;15586176;15684703;15709212;15710570;15712364;15746053;15771689;15815621;15855726;15857854;15864124;15864125;15864130;15867280;15929176;15931768;16004608;16135700;16171463;16210851;16237771;16255851;16257834;16257926;16280036;1634050;1634606;16399345;16424820;16456808;16469709;16513443;16557566;16610035;16636344;16712705;16735790;16771603;16791115;16792515;16809730;16849011;16864595;16865249;16871576;16896007;16909274;16951398;16965601;16969497;16985250;17000907;17060921;17138857;17166930;17179145;17185998;17187418;17192505;17196409;17229650;17259171;17273745;17329852;17372243;17374650;17406868;17409981;17426648;17440429;17459361;17471158;17478602;17498780;17506482;17510208;17530442;17549067;17555467;17558305;17576806;17577039;17578897;17593033;17611564;17622938;17627617;17681105;17700594;17728214;17762398;17850628;17888052;17898154;17909964;17949292;17952380;17978490;17981384;17990575;18004206;18004212;18043502;18052087;18081723;18082937;18161889;18172616;18181169;18221820;18223459;18240903;18300238;18324905;18335219;18343383;18349289;18375480;18379174;18392554;18419642;18430559;18454993;18491077;18498916;18509181;18547414;18558634;18594531;18597651;18675828;18685565;18695635;18756540;18768784;18781851;18790042;18797458;18818748;18832463;18953066;18981166;18982743;1898728;18990750;18992148;19019335;19021734;19077918;19141701;19204906;19207584;19217809;19238116;19243019;19268007;19279563;19303655;19309288;19325249;19336732;19343046;19349540;19349543;19352303;19356098;19364970;19371317;19389676;19390945;19397531;19406951;19414484;19419973;19424794;19430380;19450125;19482841;19486253;19513514;19527514;19546880;19620808;19636001;19639031;19674361;19683255;19712005;19732760;19771428;19797611;19830808;19858149;19858398;19859999;19861894;19888426;19891553;19898482;19913121;19932091;19948621;19996319;20028383;20038727;20057336;20061399;20063115;20064729;20070246;20087647;20096102;20136364;20140262;20142249;20173083;20177420;20197307;20207827;20214802;20215562;20216541;20235787;20297805;20308029;20335017;20358470;20371435;20376058;20377135;20378551;20381444;20385995;20389299;20402064;20430047;20483464;20485444;20504240;20528217;20528568;20529348;20530282;20546738;20562211;20562445;20580994;20600030;20620155;20628086;20628391;20639394;20643254;20647221;20648548;20650040;20653675;20679960;20686835;20709051;20734064;20823282;20837016;20860988;20865252;20890421;20948202;20975617;21072184;21080475;2108603;21092520;21150467;21266593;21272068;21275655;21317830;21319362;21342357;21351260;21411679;21473286;21513526;21614935;21646302;21760472;21771722;21886157;21911884;21978357;21983082;21988832;22050734;22085899;22169899;22199302;22212955;22213983;22214020;22273851;22299209;22307138;22318545;22325916;22340355;22357454;22367021;22371261;22448797;22450351;22475179;22511988;22537951;22558097;22559977;22648071;22661630;22676194;22749334;22808571;22829544;23014115;23053265;23089802;23130636;23147267;23148286;23148825;23207817;23236239;23281178;23290513;23303296;23350445;23371916;23386248;23401472;23461146;23516488;23517300;23537215;23548653;23580084;23642732;23647681;23686699;23714156;23753274;23781580;23783485;23789755;23881212;23892411;23898114;23926009;23950218;23964438;24033692;24057187;24060717;24065680;24088669;24088753;24097068;24107802;24114122;24167350;24195516;24204915;24217933;24232666;24255116;24286076;24308720;24329186;24341141;24390949;24403077;24403462;24519753;24650397;24726540;24856997;24865931;24977443;25016708;3082969;3141926;7565971;7715297;7906695;7936809;7989045;7989595;8027054;8226884;8276413;8280139;8467709;8514037;8528206;8706880;8780690;9039987;9295054;9375768;9472029;9535849;9621515;9627603;9639672 54658 P22309;Q5DT03 ABBA01001950;AC006985;AF110194;AF180372;AF297093;AF352795;AF357220;AK290834;AMYH02006011;AY435136;AY603772;BC128414;BC128415;CH471063;D87674;DQ364247;DQ374395;JQ686667;JQ699637;JQ699638;JQ699639;JQ699640;JQ699641;JQ699642;JQ699643;JQ699644;JQ699645;JQ699646;JQ699647;JQ699649;JQ699650;M57899;M84125;NG_002601;NG_033238;NM_000463 AAA61248;AAA63195;AAF01205;AAG30424;AAG43197;AAI28415;AAI28416;AAK27223;AAK31204;AAR95637;AAS99732;ABC88474;ABC96771;AFH35129;AFN10613;AFN10614;AFN10615;AFN10616;AFN10617;AFN10618;AFN10619;AFN10620;AFN10621;AFN10622;AFN10623;AFN10624;AFN10625;BAA25600;BAF83523;EAW71053;NP_000454;P22309 Hs.554822 1659705;1744505;1804900;1805190;1809098;1809344;1816240;1816652;1818102;1824666;1826992;1834124;1834178;1834370;1836020;1843664;1844606;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;2107751;2110791;2150795;2185258;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201392;2201394;2201396;5017184 AFMa057vb1;D2S2843;ECD03385;ECD03538;ECD05537;ECD05663;ECD09161;ECD09369;ECD10107;ECD13431;ECD14611;ECD18210;ECD18237;ECD18333;ECD19171;ECD23043;ECD23517;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;RH48302;RH68970;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620144;stSG620145;stSG620146 BILIQTL1;GNT1;HUG-BR1;UDPGT;UDPGT 1-1;UGT-1A;UGT1;UGT1*1;UGT1-01;UGT1.1;UGT1A OTTHUMP00000065192;OTTHUMP00000065199;UDP glycosyltransferase 1 family, polypeptide A1;UDP-glucuronosyltransferase 1-1;UDP-glucuronosyltransferase 1-A;UDP-glucuronosyltransferase 1A1;bilirubin UDP-glucuronosyltransferase 1-1;bilirubin UDP-glucuronosyltransferase isozyme 1;bilirubin-specific UDPGT isozyme 1 APPROVED protein-coding ENSG00000241635 HGNC:12530 08933 143500;191740;218800;237900;601816;606785 REVIEWED 734073 UGDH UDP-glucose 6-dehydrogenase The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 4 4 4 p15.1 39938164 39967004 - 39500375 39529218 - 39498755 39527900 - 1334484;1580863;1300048;6480464;6907045;8554872 9737970 10575217;10973831;11329013;12477932;12682078;14702039;15044486;15146197;15247292;15489334;15898741;16002992;16021519;16169070;16335966;16344560;16495656;17073734;17209547;17482904;17927902;18717819;19322201;19343720;19358821;19676054;20421487;20691680;20811636;21139048;21502315;21576248;21595445;21906983;21961565;21984906;21987572;21988832;22123821;22815472;22863883;22939629;23000965;23363239;23824909;23891004;24145036;24816145;25027693;9850599 7358 D6RHF4;E7ER83;E7ER95;E7ETF4;E7EV97;E9PBD2;O60701 ABBA01004126;AC021148;AF049126;AF061016;AJ007702;AJ272152;AJ272274;AJ276162;AJ276163;AJ276164;AK097930;AK297737;AL699883;AL708740;AMYH02009055;AU131705;BC013430;BC022781;BG194936;CH471069;CN405740;NM_001184700;NM_001184701;NM_003359;XM_005262667;XM_006714029 AAC05135;AAC36095;AAH22781;ABM82042;ABM85221;BAG53554;BAG60087;CAA07609;CAB75402;CAB75891;CAB98177;CAB98178;CAB98179;EAW92936;EAW92937;EAW92938;NP_001171629;NP_001171630;NP_003350;O60701;XP_005262724;XP_006714092 Hs.572518 2164762;2181059;5037552;5093614 A009S37;D8S2279;G32822;SHGC-67600 GDH;UDP-GlcDH;UDPGDH;UGD OTTHUMP00000125211;OTTHUMP00000218416;OTTHUMP00000218417;OTTHUMP00000218419;UDP-Glc dehydrogenase;UDP-glucose dehydrogenase;uridine diphospho-glucose dehydrogenase APPROVED protein-coding ENSG00000109814 HGNC:12525 04535 603370 REVIEWED 1352957 UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008] 2 2 2 q37 228358392 228402577 + 234637773 234681945 + 233729127 233773299 + 1580863;2316977;5129558;6480464;6907045;7364966;8554872 17353665;18674515;19250197 10748067;10836148;11179432;11179460;11434514;11465080;12639971;12695355;1339448;14570768;14672974;14986168;1503396;15047194;15057901;16738032;17179145;17558304;18052087;18161889;18677463;19204906;19303655;19414484;19419973;19889628;19891553;19898482;19913121;19956635;20142249;20189675;20628086;20639394;21646302;21822266;21886157;22085899;22511988;22558097;23281178;23371916;23611809;23642732;24097068;24641623;8780690;9230212;9271343;9295054;9535849;9616184 54659 P35503;Q5DT01 AB120359;AB120360;AB120361;AB120362;ABBA01001950;AC006985;AC114812;AF297093;AF465192;AF465193;AF465194;AMYH02006011;AY435138;CH471063;M84127;NG_002601;NM_019093 AAA92020;AAG30423;AAI66641;AAL73500;AAL73501;AAL73502;AAR95639;BAD12517;BAD12518;BAD12519;BAD12520;EAW71060;NP_061966;P35503 Hs.554822 1659705;1744505;1800110;1800878;1802266;1802632;1802814;1802970;1803414;1803720;1804900;1805190;1806278;1807916;1809098;1809344;1809430;1810944;1813554;1815498;1816240;1816652;1818102;1821006;1821224;1823614;1824346;1824666;1826004;1826992;1828476;1829248;1834124;1834178;1834370;1834754;1836020;1843664;1844606;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950630;2107751;2110791;2150795;2185258;2201344;2201346;2201348;2201350;2201352;2201354;2201356;2201364;2201366;2201368;2201370;2201372;2201376;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201394;2201396;5037277 D2S2843;ECD00911;ECD01304;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02766;ECD03385;ECD03538;ECD04094;ECD04933;ECD05537;ECD05663;ECD05707;ECD06470;ECD07800;ECD08785;ECD09161;ECD09369;ECD10107;ECD11579;ECD11689;ECD12899;ECD13271;ECD13431;ECD14111;ECD14611;ECD15365;ECD15753;ECD18210;ECD18237;ECD18333;ECD18525;ECD19171;ECD23043;ECD23517;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46113;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46167;RH48302;RH68970;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 UDPGT;UDPGT 1-3;UGT-1C;UGT1*3;UGT1-03;UGT1.3;UGT1C OTTHUMP00000065193;OTTHUMP00000065199;UDP glucuronosyltransferase 1A3;UDP glycosyltransferase 1 family, polypeptide A3;UDP-glucuronosyltransferase 1-3;UDP-glucuronosyltransferase 1-C;UDP-glucuronosyltransferase 1A3 APPROVED protein-coding ENSG00000243135 HGNC:12535 07566 606428 REVIEWED 1343519 UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq, Jul 2008] 2 2 2 q37 228348057 228402577 + 234627438 234681945 + 233718792 233773299 + 1580863;5129558;6480464;6907045;8554872 19250197 10220490;10836148;11434514;11465080;12433823;12477932;12695355;1339448;14570768;14672974;14871856;15057901;15135306;15708967;15855726;15855727;1634050;17179145;17556526;18161889;18223459;18223460;18433817;18632753;18676680;1898728;19170196;19204906;19414484;19419973;19625176;19692168;19890225;19898482;19913121;20007295;20453000;20628086;20639394;21601426;21646302;21886157;21988832;22047493;22085899;22367373;22511988;22558097;22713701;23277392;23281178;23371916;23611809;23642732;24097068;24641623;8276413;8280139;8467709;9271343;9295054;9535849 54657 P22310 ABBA01001949;ABBA01001950;AC006985;AC114812;AF297093;AF465195;AF465196;AF465197;AK313623;AMYH02006011;AY435139;BC121036;BC131623;BC139784;CH471063;M57951;M84128;NG_002601;NM_007120 AAA61249;AAA63196;AAF03522;AAG30422;AAI21037;AAI31624;AAI39785;AAL73503;AAL73504;AAL73505;AAR95640;AAY24023;BAG36384;EAW71061;NP_009051;P22310 Hs.554822 1659705;1744505;1800064;1800110;1800216;1800762;1800878;1801594;1802266;1802632;1802814;1802970;1803414;1803720;1804900;1805190;1806278;1807916;1809098;1809344;1809430;1810944;1813554;1815498;1816240;1816652;1818102;1821006;1821224;1823614;1824346;1824666;1826004;1826992;1828476;1829248;1834124;1834178;1834370;1834754;1836020;1837528;1843664;1844606;1845350;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950544;1950546;1950548;1950550;1950552;1950554;1950556;1950558;1950560;1950562;1950564;1950566;1950568;1950570;1950572;1950574;1950576;1950578;1950580;1950582;1950584;1950586;1950588;1950590;1950592;1950594;1950596;1950598;1950600;1950602;1950604;1950630;1950642;2107751;2110791;2150795;2185258;2201320;2201330;2201332;2201334;2201336;2201340;2201342;2201344;2201346;2201348;2201350;2201352;2201354;2201356;2201364;2201366;2201368;2201370;2201372;2201376;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201394;2201396;5037277 D2S2843;ECD00887;ECD00911;ECD00965;ECD01243;ECD01304;ECD01675;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02766;ECD03385;ECD03538;ECD04094;ECD04933;ECD05537;ECD05663;ECD05707;ECD06470;ECD07800;ECD08785;ECD09161;ECD09369;ECD10107;ECD11579;ECD11689;ECD12899;ECD13271;ECD13431;ECD14111;ECD14611;ECD15365;ECD15753;ECD18210;ECD18237;ECD18333;ECD18525;ECD19171;ECD19931;ECD23043;ECD23517;ECD23892;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46113;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46123;REN46124;REN46125;REN46126;REN46127;REN46128;REN46129;REN46130;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;REN46138;REN46139;REN46140;REN46141;REN46142;REN46143;REN46144;REN46145;REN46146;REN46147;REN46148;REN46149;REN46151;REN46152;REN46153;REN46154;REN46167;REN46173;RH48302;RH68970;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620104;stSG620110;stSG620111;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 HUG-BR2;UDPGT;UDPGT 1-4;UGT-1D;UGT1*4;UGT1-04;UGT1.4;UGT1D OTTHUMP00000065194;OTTHUMP00000065199;OTTHUMP00000199448;UDP glycosyltransferase 1 family, polypeptide A4;UDP-glucuronosyltransferase 1-4;UDP-glucuronosyltransferase 1-D;UDP-glucuronosyltransferase 1A4;bilirubin UDP-glucuronosyltransferase isozyme 2;bilirubin-specific UDPGT isozyme 2 APPROVED protein-coding ENSG00000244474 HGNC:12536 08402 606429 REVIEWED 1346830 UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. [provided by RefSeq, Jul 2008] 2 2 2 q37 228342257 228402577 + 234621638 234681945 + 233712992 233773299 + 1580863;6480464;6907045;8554872 10836148;11434514;11465080;1339448;14672974;18223459;19414484;19419973;19898482;19913121;20628086;20639394;21646302;21886157;22085899;22511988;22558097;23281178;23371916;23642732;24097068;8467709;9295054 54579 P35504;Q5DSZ9 ABBA01001949;ABBA01001950;AC006985;AC114812;AF297093;AF404263;AF404264;AF404265;AF404266;AF404267;AF404268;AF404269;AMYH02006011;AY435140;CH471063;DQ383514;M84129;NG_002601;NM_019078 AAA61250;AAG30421;AAI41471;AAQ03151;AAQ03152;AAQ03153;AAQ03154;AAQ03155;AAQ03156;AAQ03157;AAR95641;ABD42927;EAW71059;NP_061951;P35504 Hs.554822 1659705;1744505;1763719;1800064;1800110;1800216;1800762;1800878;1801594;1802266;1802632;1802814;1802970;1803414;1803720;1803992;1804900;1805190;1805676;1806278;1807176;1807916;1809098;1809344;1809430;1810944;1813554;1815498;1816240;1816652;1818102;1820626;1821006;1821224;1823614;1824346;1824666;1826004;1826992;1828476;1829248;1834124;1834178;1834370;1834754;1836020;1837528;1843664;1844606;1845350;1845792;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950544;1950546;1950548;1950550;1950552;1950554;1950556;1950558;1950560;1950562;1950564;1950566;1950568;1950570;1950572;1950574;1950576;1950578;1950580;1950582;1950584;1950586;1950588;1950590;1950592;1950594;1950596;1950598;1950600;1950602;1950604;1950606;1950608;1950610;1950612;1950614;1950616;1950618;1950620;1950622;1950624;1950626;1950628;1950630;1950632;1950634;1950636;1950638;1950640;1950642;1950644;1950646;1950648;1950650;2107751;2110791;2150795;2185258;2201320;2201322;2201324;2201326;2201328;2201330;2201334;2201336;2201340;2201342;2201344;2201346;2201348;2201350;2201352;2201354;2201356;2201364;2201366;2201368;2201370;2201372;2201376;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201394;2201396 D2S2843;ECD00887;ECD00911;ECD00965;ECD01243;ECD01304;ECD01675;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02766;ECD02911;ECD03385;ECD03538;ECD03788;ECD04094;ECD04554;ECD04933;ECD05537;ECD05663;ECD05707;ECD06470;ECD07800;ECD08785;ECD09161;ECD09369;ECD10107;ECD11388;ECD11579;ECD11689;ECD12899;ECD13271;ECD13431;ECD14111;ECD14611;ECD15365;ECD15753;ECD18210;ECD18237;ECD18333;ECD18525;ECD19171;ECD19931;ECD23043;ECD23517;ECD23892;ECD24115;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46123;REN46124;REN46125;REN46126;REN46127;REN46128;REN46129;REN46130;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;REN46138;REN46139;REN46140;REN46141;REN46142;REN46143;REN46144;REN46145;REN46146;REN46147;REN46148;REN46149;REN46151;REN46152;REN46153;REN46154;REN46155;REN46156;REN46157;REN46158;REN46159;REN46160;REN46161;REN46162;REN46163;REN46164;REN46165;REN46166;REN46167;REN46168;REN46169;REN46170;REN46171;REN46172;REN46173;REN46174;REN46175;REN46176;REN46177;RH48302;RH68970;SHGC-147389;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620104;stSG620106;stSG620107;stSG620108;stSG620109;stSG620110;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 UDPGT;UDPGT 1-5;UGT-1E;UGT1*5;UGT1E OTTHUMP00000065195;OTTHUMP00000065199;UDP glycosyltransferase 1 family, polypeptide A5;UDP-glucuronosyltransferase 1 family polypeptide A5s;UDP-glucuronosyltransferase 1-5;UDP-glucuronosyltransferase 1-E;UDP-glucuronosyltransferase 1A5 APPROVED protein-coding ENSG00000240224 HGNC:12537 07335 606430 REVIEWED 1349499 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. [provided by RefSeq, Jul 2008] 2 2 2 q37 228320943 228402583 + 234600321 234681951 + 233691675 233773305 + 1580863;6480464;6907045;8552693;8554872 23462933 10836148;11434514;11465080;11714888;12009407;12170472;12477932;12480553;12623074;12732365;1339448;14646291;14672974;15247627;15258112;15284531;15319294;15761114;15770010;15770079;15855726;16141797;16305586;1634050;16344560;16399343;16399344;16529747;16797247;16969497;17085674;17179145;17301691;17424838;17479406;17609736;17622933;17925173;17927138;17965524;18161889;18318774;18695635;18784359;1898728;18992148;18992263;19064572;19204906;19223558;19262071;19267064;19356052;19406951;19414484;19419973;19424794;19437564;19450126;19575027;19712005;19799547;19898482;19913121;19956635;20007669;20453000;20540849;20628086;20639394;20679960;20686835;20854796;20860988;2108603;21266593;21586239;21625173;21646302;21666065;21886157;22030088;22085899;22228101;22450351;22511988;22558097;22901212;22912755;23099353;23281178;23371916;23441093;23642732;24036429;24097068;24255116;3141926;8276413;8280139;8877866;8889548;9295054;9429234;9466822;9800648 54578 B5MCT4;C9JMY5;H7C5F8;P19224;Q5DSZ8;Q5DT01 ABBA01001949;ABBA01001950;AC006985;AF014112;AF297093;AMYH02006011;AY435141;BC011409;BC019861;BE463503;BM688740;BM924331;CH471063;DB014621;DQ364250;J04093;M84124;M84130;NG_002601;NM_001072;NM_205862 AAA61247;AAA61251;AAB87411;AAC41717;AAG30420;AAH19861;AAR95642;ABC96774;EAW71055;NP_001063;NP_995584;P19224 Hs.554822 1659481;1659705;1744505;1763719;1800064;1800110;1800216;1800762;1800878;1801594;1802266;1802632;1802814;1802970;1803414;1803720;1803992;1804900;1805190;1805550;1805676;1806278;1807176;1807302;1807916;1808626;1809098;1809344;1809430;1810944;1811640;1813554;1814642;1815498;1816152;1816240;1816398;1816494;1816652;1818102;1820626;1821006;1821224;1823614;1824346;1824666;1826004;1826992;1828476;1829246;1829248;1834124;1834178;1834370;1834754;1835388;1836020;1837528;1843664;1844606;1845350;1845616;1845792;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950544;1950546;1950548;1950550;1950552;1950554;1950556;1950558;1950560;1950562;1950564;1950566;1950568;1950570;1950572;1950574;1950576;1950578;1950580;1950582;1950584;1950586;1950588;1950590;1950592;1950594;1950596;1950598;1950600;1950602;1950604;1950606;1950608;1950610;1950612;1950614;1950616;1950618;1950620;1950622;1950624;1950626;1950628;1950630;1950632;1950634;1950636;1950638;1950640;1950642;1950644;1950646;1950648;1950650;1950652;1950654;1950656;1950658;1950660;1950662;1950664;1950666;1950668;1950670;1950672;1950674;1950676;1950678;1950680;1950682;1950684;1950686;1950688;1950690;1950692;1950694;1950696;1950698;1950700;1950702;1950704;1950706;1950708;1950710;1950712;1950714;1950716;1950718;1950720;1950722;1950724;1950726;1950728;1950730;1950732;1950734;1950736;1950738;1950740;1950742;1950744;1950746;1950748;1950750;1950752;1950754;1950756;1950758;1950760;1950762;1950764;1950766;1950768;1950770;1950772;1950774;1950776;1950778;1950780;1950782;1950784;1950786;1950788;1950790;1950792;1950794;1950796;1950798;1950800;1950802;2107751;2110791;2150795;2185258;2201292;2201294;2201296;2201298;2201300;2201302;2201304;2201306;2201308;2201310;2201312;2201314;2201316;2201318;2201320;2201322;2201324;2201326;2201328;2201330;2201334;2201336;2201340;2201342;2201344;2201346;2201348;2201350;2201352;2201354;2201356;2201364;2201366;2201368;2201370;2201372;2201376;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201394;2201396;5119753 AFMB341XG5;D2S2843;ECD00887;ECD00911;ECD00965;ECD01243;ECD01304;ECD01675;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02766;ECD02911;ECD03385;ECD03538;ECD03723;ECD03788;ECD04094;ECD04554;ECD04621;ECD04933;ECD05295;ECD05537;ECD05663;ECD05707;ECD06470;ECD06823;ECD07800;ECD08351;ECD08785;ECD09116;ECD09161;ECD09241;ECD09289;ECD09369;ECD10107;ECD11388;ECD11579;ECD11689;ECD12899;ECD13271;ECD13431;ECD14111;ECD14611;ECD15365;ECD15752;ECD15753;ECD18210;ECD18237;ECD18333;ECD18525;ECD18849;ECD19171;ECD19931;ECD23043;ECD23517;ECD23892;ECD24026;ECD24115;GDB:181246;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46123;REN46124;REN46125;REN46126;REN46127;REN46128;REN46129;REN46130;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;REN46138;REN46139;REN46140;REN46141;REN46142;REN46143;REN46144;REN46145;REN46146;REN46147;REN46148;REN46149;REN46151;REN46152;REN46153;REN46154;REN46155;REN46156;REN46157;REN46158;REN46159;REN46160;REN46161;REN46162;REN46163;REN46164;REN46165;REN46166;REN46167;REN46168;REN46169;REN46170;REN46171;REN46172;REN46173;REN46174;REN46175;REN46176;REN46177;REN46178;REN46179;REN46180;REN46181;REN46182;REN46183;REN46184;REN46185;REN46186;REN46187;REN46188;REN46189;REN46190;REN46191;REN46192;REN46193;REN46194;REN46195;REN46196;REN46197;REN46198;REN46199;REN46200;REN46201;REN46202;REN46203;REN46204;REN46205;REN46206;REN46207;REN46208;REN46209;REN46210;REN46211;REN46212;REN46213;REN46214;REN46215;REN46216;REN46217;REN46218;REN46219;REN46220;REN46221;REN46222;REN46223;REN46224;REN46225;REN46226;REN46227;REN46228;REN46229;REN46230;REN46231;REN46232;REN46233;REN46234;REN46235;REN46236;REN46237;REN46238;REN46239;REN46240;REN46241;REN46242;REN46243;REN46244;REN46245;REN46246;REN46247;REN46248;REN46249;REN46250;REN46251;REN46252;REN46253;RH48302;RH68970;SHGC-147389;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620090;stSG620091;stSG620092;stSG620093;stSG620094;stSG620095;stSG620096;stSG620097;stSG620098;stSG620099;stSG620100;stSG620101;stSG620102;stSG620103;stSG620104;stSG620106;stSG620107;stSG620108;stSG620109;stSG620110;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 GNT1;HLUGP;HLUGP1;MGC29860;UDPGT;UDPGT 1-6;UGT-1F;UGT1;UGT1*6;UGT1-06;UGT1.6;UGT1A6S;UGT1F OTTHUMP00000065198;OTTHUMP00000065199;OTTHUMP00000199449;OTTHUMP00000199450;UDP glycosyltransferase 1 family, polypeptide A6;UDP-glucuronosyltransferase 1 family polypeptide A6s;UDP-glucuronosyltransferase 1-6;UDP-glucuronosyltransferase 1-F;UDP-glucuronosyltransferase 1A6;phenol-metabolizing UDP-glucuronosyltransferase APPROVED protein-coding ENSG00000167165 HGNC:12538 07071 606431 REVIEWED 70821 UGT1A@ UDP glycosyltransferase 1 family, polypeptide A1 ASSOCIATED WITH Crigler Najjar syndrome, type 2 (inferred); Crigler-Najjar Syndrome (inferred); Gilbert Disease (inferred); INTERACTS WITH beta-naphthoflavone; carbamazepine; curcumin 1580863;6480464;8554872 7361 Q8WUQ4 HGNC:12529 1601678 UGT2A2 UDP glucuronosyltransferase 2 family, polypeptide A2 ENCODES a protein that exhibits glucuronosyltransferase activity; INVOLVED IN cellular glucuronidation; metabolic process; PARTICIPATES IN ascorbate and aldarate metabolic pathway; O-linked glycan biosynthetic pathway; pentose and glucuronate interconversion pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); alpha-hexachlorocyclohexane (ortholog); amiodarone (ortholog) 4 4 4 q13.3 67801132 67858275 - 70454135 70505360 - 69588417 69639642 - 6907045;6480464;8554872 10359671;15815621;16141793;19858781;23086198;9847074 574537 Q9Y4X1;S4R3I0;S4R436 ABBA01022917;ABBA01022918;ABBA01022919;ABBA01022920;ABBA01022921;AC093829;AMYH02009405;AMYH02009406;AMYH02009407;FJ664272;FJ664273;NM_001105677;NM_001301233 ACV70034;ACV70035;NP_001099147;NP_001288162 Hs.225950 2110019 UGT2A1_9200 OTTHUMP00000220482;OTTHUMP00000220483;UDP-glucuronosyltransferase 2A2 protein-coding HGNC:28183 VALIDATED 69489 UGT2A1 UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. [provided by RefSeq, Jul 2014] 4 4 4 q13 67800177 67871858 - 70454135 70518967 - 69588417 69653249 - 1300048;1580863;6480464;6907045;8554872 10359671;10748067;11179432;11376859;12376738;12477932;16141793;17107849;17627976;18719240;19022937;19343046;19858781;19898482;21164388;21899827;22265884;22984225;23372764;23551063;23756265 10941 D6RFW5;D6RHF3;Q9Y4X1 ABBA01022917;ABBA01022918;ABBA01022919;ABBA01022920;ABBA01022921;AC093829;AJ006054;AK304249;AK314209;AMYH02009405;AMYH02009406;AMYH02009407;BC142640;BE463677;CD105882;CH471057;KF457774;NM_001252274;NM_001252275;NM_001301239;NM_006798 AAI56240;AAI57013;BAG65116;CAB41974;EAX05593;EAX05594;NP_001239203;NP_001239204;NP_001288168;NP_006789;Q9Y4X1 Hs.225950 2110019 UGT2A1_9200 UDPGT2A1 OTTHUMP00000159764;OTTHUMP00000220481;OTTHUMP00000220482;OTTHUMP00000220483;UDP glycosyltransferase 2 family, polypeptide A1;UDP-glucuronosyltransferase 2A1;UDPGT 2A1;uridine diphosphate glycosyltransferase 2 family, member A1 APPROVED protein-coding ENSG00000173610 HGNC:12542 05279 604716 REVIEWED 1346968 UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008] 2 2 2 q37 228265743 228402583 + 234545123 234681951 + 233636477 233773305 + 1580863;5129558;6480464;6907045;8554872 19250197 10024527;10497143;10748067;10836148;11179432;11434514;11465080;11901093;12477932;12695339;12847094;12910533;14672974;15057901;15117964;15489334;15618702;16019943;16475821;17179145;17558305;17603215;18052087;18161889;18556656;18570380;18725508;19244109;19414484;19419973;19898482;19913121;20007297;20007669;20089735;20297805;20379614;20628086;20639394;20732626;20800603;20972438;2108603;21646302;21832049;21846474;21886157;22031623;22085899;22511988;22558097;22659092;23160818;23281178;23371916;23642732;24097068;24163127;24239897;8467709;9271343;9295054;9325166;9647757 54575 Q5DT02;Q9HAW8 ABBA01001949;ABBA01001950;AC006985;AC019072;AF297093;AK025403;AMYH02006011;AY435137;BC020971;BC053576;BC069210;CH471063;NG_002601;NM_019075;U39550;U89508 AAA80547;AAB81537;AAF03522;AAG30417;AAH20971;AAH53576;AAH69210;AAR95638;EAW71058;NP_061948;Q9HAW8 Hs.554822 1659481;1659705;1744505;1763719;1800064;1800110;1800216;1800762;1800878;1801594;1802266;1802632;1802814;1802970;1803414;1803528;1803720;1803992;1804900;1805190;1805550;1805676;1806278;1806718;1807176;1807302;1807384;1807916;1808626;1809098;1809344;1809430;1810944;1811256;1811640;1811738;1813258;1813554;1813996;1814642;1815184;1815498;1816152;1816240;1816398;1816494;1816652;1818102;1818894;1820626;1821006;1821224;1822616;1823544;1823614;1824346;1824440;1824514;1824666;1825544;1826004;1826350;1826542;1826806;1826992;1827508;1828384;1828476;1829246;1829248;1829856;1831126;1832044;1832824;1833146;1834124;1834178;1834370;1834754;1835388;1835620;1835910;1836020;1836876;1837528;1839962;1841580;1843664;1843844;1844402;1844606;1845350;1845616;1845792;1845904;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950544;1950546;1950548;1950550;1950552;1950554;1950556;1950558;1950560;1950562;1950564;1950566;1950568;1950570;1950572;1950574;1950576;1950578;1950580;1950582;1950584;1950586;1950588;1950590;1950592;1950594;1950596;1950598;1950600;1950602;1950604;1950606;1950608;1950610;1950612;1950614;1950616;1950618;1950620;1950622;1950624;1950626;1950628;1950630;1950632;1950634;1950636;1950638;1950640;1950642;1950644;1950646;1950648;1950650;1950652;1950654;1950656;1950658;1950660;1950662;1950664;1950666;1950668;1950670;1950672;1950674;1950676;1950678;1950680;1950682;1950684;1950686;1950688;1950690;1950692;1950694;1950696;1950698;1950700;1950702;1950704;1950706;1950708;1950710;1950712;1950714;1950716;1950718;1950720;1950722;1950724;1950726;1950728;1950730;1950732;1950734;1950736;1950738;1950740;1950742;1950744;1950746;1950748;1950750;1950752;1950754;1950756;1950758;1950760;1950762;1950764;1950766;1950768;1950770;1950772;1950774;1950776;1950778;1950780;1950782;1950784;1950786;1950788;1950790;1950792;1950794;1950796;1950798;1950800;1950802;1950804;1950806;1950808;1950810;1950812;1950814;1950816;1950818;1950820;1950822;1950824;1950826;1950828;1950830;1950832;1950834;1950836;1950838;1950840;1950842;1950844;1950846;1950848;1950850;1950852;1950854;1950856;1950858;1950860;1950862;1950864;1950866;1950868;1950870;1950872;1950874;1950876;1950878;1950880;1950882;1950884;1950886;1950888;1950890;1950892;1950894;1950896;1950898;1950900;1950902;1950904;1950906;1950908;1950910;1950912;1950914;1950916;1950918;1950920;1950922;1950924;1950926;1950928;1950930;1950932;1950934;1950936;1950938;1950940;1950942;1950944;1950946;1950948;1950950;1950952;1950954;1950956;1950958;1950960;1950962;1950964;1950966;1950968;1950970;1950972;1950974;1950976;1950978;1950980;1950982;1950984;1950986;1950988;1950990;1950992;1950994;1950996;1950998;1951000;1951002;1951004;1951006;1951008;1951010;1951012;1951014;1951016;1951018;1951020;1951022;1951024;1951026;1951028;1951030;1951032;1951034;1951036;1951038;1951040;1951042;1951044;1951046;1951048;1951050;1951052;1951054;1951056;1951058;1951060;1951062;1951064;1951066;1951068;1951070;1951072;1951074;1951076;1951078;1951080;1951082;1951084;1951086;1951088;1951090;1951092;1951094;1951096;1951098;1951100;1951102;1951104;1951106;1951108;1951110;1951112;1951114;1951116;1951118;1951120;1951122;1951124;1951126;1951128;1951130;1951132;1951134;1951136;1951138;1951140;1951142;1951144;1951146;1951148;1951150;1951152;1951154;1951156;1951158;1951160;1951162;1951164;1951166;1951168;1951170;1951172;1951174;1951176;1951178;1951180;1951182;1951184;1951186;1951188;1951190;1951192;1951194;1951196;1951198;1951200;1951202;1951204;1951206;1951256;1951284;1951286;1951288;1951306;1951308;1951314;1951442;1951504;1951512;1951518;1951536;2107751;2110791;2150795;2185258;2201224;2201228;2201238;2201240;2201242;2201244;2201248;2201250;2201252;2201254;2201256;2201258;2201260;2201262;2201264;2201266;2201268;2201270;2201272;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N46423;REN46424;REN46425;REN46426;REN46427;REN46428;REN46430;REN46431;REN46432;REN46433;REN46434;REN46435;REN46436;REN46437;REN46438;REN46439;REN46440;REN46441;REN46442;REN46443;REN46444;REN46445;REN46446;REN46447;REN46448;REN46449;REN46450;REN46451;REN46452;REN46453;REN46454;REN46455;REN46456;REN46457;REN46482;REN46496;REN46497;REN46498;REN46507;REN46508;REN46511;REN46577;REN46608;REN46612;REN46615;REN46624;RH48302;RH68970;SHGC-147389;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620055;stSG620057;stSG620063;stSG620064;stSG620065;stSG620066;stSG620068;stSG620069;stSG620070;stSG620071;stSG620072;stSG620073;stSG620074;stSG620075;stSG620076;stSG620077;stSG620078;stSG620079;stSG620080;stSG620081;stSG620082;stSG620083;stSG620084;stSG620085;stSG620086;stSG620087;stSG620088;stSG620089;stSG620090;stSG620091;stSG620092;stSG620093;stSG620094;stSG620095;stSG620096;stSG620097;stSG620098;stSG620099;stSG620100;stSG620101;stSG620102;stSG620103;stSG620104;stSG620106;stSG620107;stSG620108;stSG620109;stSG620110;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 UDPGT;UDPGT 1-10;UGT-1J;UGT1*10;UGT1-10;UGT1.10;UGT1J OTTHUMP00000065196;OTTHUMP00000065197;OTTHUMP00000065199;UDP glycosyltransferase 1 family, polypeptide A10;UDP-glucuronosyltransferase 1-10;UDP-glucuronosyltransferase 1-J;UDP-glucuronosyltransferase 1A10 APPROVED protein-coding ENSG00000242515 HGNC:12531 07336 606435 REVIEWED 1605934 UGT2A3 UDP glucuronosyltransferase 2 family, polypeptide A3 ENCODES a protein that exhibits glucuronosyltransferase activity; INVOLVED IN cellular glucuronidation; PARTICIPATES IN ascorbate and aldarate metabolic pathway; O-linked glycan biosynthetic pathway; pentose and glucuronate interconversion pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; cyclosporin A; methyl methanesulfonate 4 4 4 q13.2 67135540 67158847 - 69794177 69817509 - 68928459 68951791 - 6480464;6907045;8554872 12477932;12975309;15342556;18523138;19858781;20379614;20819778;8125298 79799 D6RBL8;Q6UWM9 ABBA01022914;AC021146;AC226496;AK025587;AK225308;AK293381;AMYH02009390;AMYH02009391;AMYH02009392;AW194955;AY358727;AY542891;BC130533;BP262099;CH471057;NM_024743;NR_024010;XM_006714305;XM_006725000 AAI30534;AAQ89089;AAS48425;ADR83210;BAB15179;BAG56893;EAX05580;EAX05581;NP_079019;Q6UWM9;XP_006714368;XP_006725063 Hs.122583 2175484 D4S874 FLJ21934 OTTHUMP00000159774;UDP-glucuronosyltransferase 2A3;UDPGT 2A3 protein-coding ENSG00000135220 HGNC:28528 08646 VALIDATED 1320630 UGT2B10 UDP glucuronosyltransferase 2 family, polypeptide B10 ENCODES a protein that exhibits glucuronosyltransferase activity (inferred); INVOLVED IN lipid metabolic process (inferred); PARTICIPATES IN ascorbate and aldarate metabolic pathway; O-linked glycan biosynthetic pathway; pentose and glucuronate interconversion pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; beta-naphthoflavone 4 4 4 q13.2 67023384 67039412 + 69681713 69697741 + 68815995 68832023 + 1580863;6480464;6907045;8554872 10024527;10748067;12477932;15489334;16335952;17576790;17909004;18300939;20501767;20799965;20876810;21988832;22228205;23611809;24192532;8125298;8333863 7365 P36537;Q53GU2 ABBA01022914;AC021146;AC226496;AK222839;AK222872;AK292738;AK298432;AMYH02009389;BC113649;CD013994;CH471057;KF459626;NM_001075;NM_001144767;NM_001290091 AAI13650;BAD96559;BAD96592;BAF85427;BAG60653;EAX05576;EAX05577;EAX05578;NP_001066;NP_001138239;NP_001277020;P36537 Hs.201634 MGC142209;UDPGT2B10 OTTHUMP00000220324;OTTHUMP00000220325;UDP glucuronosyltransferase 2B10;UDP-glucuronosyltransferase 2B10;UDPGT 2B10;udp glycosyltransferase 2 family, polypeptide b10 protein-coding HGNC:12544 07193 600070 VALIDATED 1345333 UGT2B11 UDP glucuronosyltransferase 2 family, polypeptide B11 ENCODES a protein that exhibits glucuronosyltransferase activity (inferred); INVOLVED IN estrogen metabolic process (inferred); xenobiotic metabolic process (inferred); PARTICIPATES IN ascorbate and aldarate metabolic pathway; O-linked glycan biosynthetic pathway; pentose and glucuronate interconversion pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH 1-naphthol; 2-aminophenol; 4-methylumbelliferone 4 4 4 q13.2 67407680 67422093 - 70066035 70080449 - 69200317 69214731 - 1580863;6480464;6907045;8554872 12477932;15489334;19343046;19898482;20214802;21679149;8333863;9675083 10720 O75310;Q9NS17 ABBA01022916;AC111000;AC114797;AF016492;AF135417;AMYH02009395;BC069441;BC107059;BC107060;CH471057;NM_001073 AAC27891;AAF78146;AAH69441;AAI07060;AAI07061;AAY41046;EAX05586;EAX05587;NP_001064;O75310 Hs.339811 MGC129611;MGC129612 OTTHUMP00000159761;UDP glycosyltransferase 2 family protein;UDP glycosyltransferase 2 family, polypeptide B11;UDP-glucuronosyltransferase 2B11;UDPGT 2B11 protein-coding ENSG00000213759 HGNC:12545 04345 603064 PROVISIONAL 1343349 UGT2B15 UDP glucuronosyltransferase 2 family, polypeptide B15 This gene encodes a member of the UDP-glycosyltransferase (UDPGT) family. The UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein displays activity towards several classes of xenobiotic substrates, including simple phenolic compounds, 7-hydroxylated coumarins, flavonoids, anthraquinones, and certain drugs and their hydroxylated metabolites. It also catalyzes the glucuronidation of endogenous estrogens and androgens. [provided by RefSeq, Oct 2011] 4 4 4 q13 66854004 66878059 - 69512315 69536494 - 68646597 68670776 - 1580863;6480464;6907045 10024527;10468930;10748067;11129427;12010866;12376738;12386133;12477932;12646996;12695355;12880121;15044558;15065092;15126881;15318931;15618667;15666817;15815621;15952058;15961980;16513443;16690804;16859836;17244352;17507624;17576806;17687269;17698910;17848572;17988216;18161889;18281521;18302198;18496127;19343046;19487245;19572376;19847790;19898482;19916996;19956635;20142249;20736324;2116769;21365123;21404072;21666065;22170718;22532564;22829776;22960998;23223495;23404680;23951298;24121496;24267955;24822274;3100939;7574722;7835232;7835904;8399210;9202245;9295060 7366 AAB28536;B7ZW53;P54855 ABBA01022911;ABBA01022912;ABBA01022913;AC019173;AC147055;AF179404;AF180322;AF548389;AK289419;AMYH02009389;BC171879;CH471057;NM_001076;U06641;U08854 AAA83406;AAB28536;AAC50077;AAD55093;AAF25010;AAI41424;AAI46571;AAI71879;AAN40695;BAF82108;EAX05574;NP_001067;P54855 Hs.150207 1848165;2146387;5016199;5019028;5023266 D4S2612;G42996;G60251;SHGC-59737;SHGC-68230 HLUG4;UDPGT 2B8;UDPGT2B15;UDPGTH3;UGT2B8 OTTHUMP00000220326;UDP glycosyltransferase 2B15;UDP-glucuronosyltransferase 2B15;UDP-glucuronosyltransferase 2B8;UDP-glucuronosyltransferase UGT2B15;UDP-glucuronyltransferase, family 2, beta-15;UDPGT 2B15;UDPGTh-3;udp glycosyltransferase 2 family, polypeptide b15 APPROVED protein-coding ENSG00000196620 HGNC:12546 07192 600069 REVIEWED 1353542 UGT2B24P UDP glucuronosyltransferase 2 family, polypeptide B24 pseudogene 4 4 4 q13 67620255 67621277 + 70274546 70288993 + 69408828 69423275 + 10623541 54572 ABBA01022917;AC108078;AF179876;AMYH02009404;NG_001282 pseudo HGNC:12548 VALIDATED 1347362 UGT2B25P UDP glucuronosyltransferase 2 family, polypeptide B25 pseudogene 4 4 4 q13 67601029 67601927 + 70255201 70267912 + 69389483 69402194 + 10623541;9847074 54571 ABBA01022917;AC108078;AC114786;AF179877;AMYH02009404;NG_001281 pseudo HGNC:12549 INFERRED 1350006 UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010] 4 4 4 q13 49985485 50019693 - 69402902 69434245 - 68537184 68568527 - 1580863;6480464;6907045;8554872 11853692;15666817;16220109;16332934;16896035;17387331;17416778;17698910;17826523;17848572;17935910;17988216;18093280;18247404;18281521;18302198;18334593;18760392;18992858;19056415;19088161;19224506;19282302;19318555;19572376;19574343;19935662;20056642;20142249;20192879;20429943;20554747;20628005;20736324;20810538;20876810;20878390;21365123;21614655;21677662;21919858;22170718;22228205;22669291;22726315;22887913;22958586;23053953;23169782;23223495;23294483;23850147;23927372;23936477;24121496;24267955;6746859;76619;8798464;9364925 7367 O75795 ABBA01006524;ABBA01006525;ABBA01006526;AC134921;AC147055;AMYH02009389;CH471293;NG_017033;NM_001077;U59209 AAC25491;AAI41518;EAW55622;NP_001068;O75795 Hs.575083 5016199;5023266 D4S2612;G60251 BMND12;UDPGT2B17 C19-steroid-specific UDP-glucuronosyltransferase;C19-steroid-specific UDPGT;OTTHUMP00000159641;UDP glycosyltransferase 2 family, member B17;UDP-glucuronosyltransferase 2B17;UDP-glucuronyltransferase, family 2, beta-17 APPROVED protein-coding ENSG00000197888 HGNC:12547 03545 601903;612560 REVIEWED 1343331 UGT2B26P UDP glucuronosyltransferase 2 family, polypeptide B26 pseudogene 4 4 4 q13 67235028 67235915 + 69893503 69910736 + 69027785 69045018 + 10623541 54570 ABBA01022916;AC107401;AF179878;AMYH02009393;NG_001280 pseudo HGNC:12550 INFERRED 1346099 UGT2B27P UDP glucuronosyltransferase 2 family, polypeptide B27 pseudogene 4 4 4 q13 67227024 67228031 - 69885382 69886389 - 69019664 69020671 - 10623541 54569 ABBA01022916;AC107401;AF179879;AMYH02009393;NG_001279 pseudo HGNC:12551 INFERRED 1345630 UGT2B29P UDP glucuronosyltransferase 2 family, polypeptide B29 pseudogene 4 4 4 q13 49964860 49965880 - 69382636 69383371 - 68516918 68517653 - 10623541 54568 ABBA01006523;AC079749;AC247056;AF179880;NG_001278 pseudo HGNC:12552 INFERRED 1342708 UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. [provided by RefSeq, Jul 2008] 2 2 2 q37 228246906 228402577 + 234526291 234681946 + 233617645 233773299 + 1580863;5129558;6480464;6907045;8554872 19250197 10497143;10836148;11179460;11434514;11465080;11901093;12042666;12433820;12639971;12695355;12847094;12920167;1339448;14672974;15057901;15247627;15319294;16397224;17179145;17339869;17603215;18052087;18454993;18568343;18695635;18946804;19225446;19244109;19414484;19419973;19898482;19913121;19996319;20147615;20297805;20379614;20453000;20565459;20628086;20639394;20732626;20972438;21646302;21886157;22085899;22367021;22511988;22558097;23281178;23371916;23642732;23682072;23700788;23721685;24097068;24163127;8467709;9295054;9535849;9647757;9705221 54576 Q5DSZ6;Q9HAW9 ABBA01001949;ABBA01001950;AC006985;AC019072;AC114812;AF030310;AF297093;AF462267;AF462268;AF465198;AF465199;AF465200;AK313488;AMYH02006011;AY435143;CH471063;DQ364251;NG_002601;NM_019076;U42604 AAA86625;AAB84259;AAF03522;AAG30416;AAI56849;AAL73506;AAL73507;AAL73508;AAL75963;AAL75964;AAR95644;AAY24023;ABC96775;BAG36270;EAW71057;NP_061949;Q9HAW9 Hs.554822 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AFMB341XG5;D2S2843;ECD00887;ECD00911;ECD00965;ECD01243;ECD01304;ECD01675;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02665;ECD02766;ECD02911;ECD03385;ECD03538;ECD03723;ECD03788;ECD04094;ECD04316;ECD04554;ECD04621;ECD04663;ECD04933;ECD05295;ECD05537;ECD05663;ECD05707;ECD06470;ECD06626;ECD06823;ECD06873;ECD07649;ECD07800;ECD08025;ECD08351;ECD08501;ECD08627;ECD08785;ECD08954;ECD09116;ECD09161;ECD09241;ECD09289;ECD09369;ECD10107;ECD10511;ECD11388;ECD11579;ECD11689;ECD12396;ECD12863;ECD12898;ECD12899;ECD13271;ECD13318;ECD13355;ECD13431;ECD13880;ECD14111;ECD14288;ECD14385;ECD14518;ECD14611;ECD14870;ECD15318;ECD15365;ECD15664;ECD15752;ECD15753;ECD16061;ECD16699;ECD17160;ECD17553;ECD17715;ECD18210;ECD18237;ECD18333;ECD18525;ECD18849;ECD18966;ECD19116;ECD19171;ECD19602;ECD19634;ECD19931;ECD21165;ECD21987;ECD22576;ECD23043;ECD23133;ECD23415;ECD23517;ECD23892;ECD24026;ECD24115;ECD24172;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46123;REN46124;REN46125;REN46126;REN46127;REN46128;REN46129;REN46130;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;REN46138;REN46139;REN46140;REN46141;REN46142;REN46143;REN46144;REN46145;REN46146;REN46147;REN46148;REN46149;REN46151;REN46152;REN46153;REN46154;REN46155;REN46156;REN46157;REN46158;REN46159;REN46160;REN46161;REN46162;REN46163;REN46164;REN46165;REN46166;REN46167;REN46168;REN46169;REN46170;REN46171;REN46172;REN46173;REN46174;REN46175;REN46176;REN46177;REN46178;REN46179;REN46180;REN46181;REN46182;REN46183;REN46184;REN46185;REN46186;REN46187;REN46188;REN46189;REN46190;REN46191;REN46192;REN46193;REN46194;REN46195;REN46196;REN46197;REN46198;REN46199;REN46200;REN46201;REN46202;REN46203;REN46204;REN46205;REN46206;REN46207;REN46208;REN46209;REN46210;REN46211;REN46212;REN46213;REN46214;REN46215;REN46216;REN46217;REN46218;REN46219;REN46220;REN46221;REN46222;REN46223;REN46224;REN46225;REN46226;REN46227;REN46228;REN46229;REN46230;REN46231;REN46232;REN46233;REN46234;REN46235;REN46236;REN46237;REN46238;REN46239;REN46240;REN46241;REN46242;REN46243;REN46244;REN46245;REN46246;REN46247;REN46248;REN46249;REN46250;REN46251;REN46252;REN46253;REN46254;REN46255;REN46256;REN46257;REN46258;REN46259;REN46260;REN46261;REN46262;REN46263;REN46264;REN46265;REN46266;REN46267;REN46268;REN46269;REN46270;REN46271;REN46272;REN46273;REN46274;REN46275;REN46276;REN46277;REN46278;REN46279;REN46280;REN46281;REN46282;REN46283;REN46284;REN46285;REN46286;REN46287;REN46288;REN46289;REN46290;REN46291;REN46292;REN46293;REN46294;REN46295;REN46296;REN46297;REN46298;REN46299;REN46300;REN46301;REN46302;REN46303;REN46304;REN46305;REN46306;REN46307;REN46308;REN46309;REN46310;REN46311;REN46312;REN46313;REN46314;REN46315;REN46316;REN46317;REN46318;REN46319;REN46320;REN46321;REN46322;REN46323;REN46324;REN46325;REN46326;REN46327;REN46328;REN46329;REN46330;REN46331;REN46332;REN46333;REN46334;REN46335;REN46336;REN46337;REN46338;REN46339;REN46340;REN46341;REN46342;REN46343;REN46344;REN46345;REN46346;REN46347;REN46348;REN46349;REN46350;REN46351;REN46352;REN46353;REN46354;REN46355;REN46356;REN46357;REN46358;REN46359;REN46360;REN46361;REN46362;REN46363;REN46364;REN46365;REN46366;REN46367;REN46368;REN46369;REN46370;REN46371;REN46372;REN46373;REN46374;REN46375;REN46376;REN46377;REN46378;REN46379;REN46380;REN46381;REN46382;REN46383;REN46384;REN46385;REN46386;REN46387;REN46388;REN46389;REN46390;REN46391;REN46392;REN46393;REN46394;REN46395;REN46396;REN46397;REN46398;REN46399;REN46400;REN46401;REN46402;REN46403;REN46404;REN46405;REN46406;REN46407;REN46408;REN46409;REN46410;REN46411;REN46412;REN46413;REN46414;REN46415;REN46416;REN46417;REN46418;REN46419;REN46420;REN46421;REN46422;REN46423;REN46424;REN46425;REN46426;REN46427;REN46428;REN46430;REN46431;REN46432;REN46433;REN46434;REN46435;REN46436;REN46437;REN46438;REN46439;REN46440;REN46441;REN46442;REN46443;REN46444;REN46445;REN46446;REN46447;REN46448;REN46449;REN46450;REN46451;REN46452;REN46453;REN46454;REN46455;REN46456;REN46457;REN46458;REN46459;REN46460;REN46461;REN46462;REN46463;REN46464;REN46465;REN46466;REN46467;REN46468;REN46469;REN46470;REN46471;REN46472;REN46473;REN46474;REN46475;REN46476;REN46477;REN46478;REN46479;REN46480;REN46481;REN46482;REN46483;REN46484;REN46485;REN46486;REN46487;REN46488;REN46489;REN46490;REN46491;REN46492;REN46493;REN46494;REN46495;REN46496;REN46497;REN46498;REN46499;REN46500;REN46501;REN46502;REN46503;REN46504;REN46505;REN46506;REN46507;REN46508;REN46509;REN46510;REN46511;REN46512;REN46513;REN46514;REN46515;REN46523;REN46524;REN46525;REN46526;REN46528;REN46530;REN46577;REN46608;REN46612;REN46615;REN46624;RH122002;RH48302;RH68970;SHGC-147389;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620055;stSG620056;stSG620057;stSG620058;stSG620059;stSG620061;stSG620062;stSG620063;stSG620064;stSG620065;stSG620066;stSG620068;stSG620069;stSG620070;stSG620071;stSG620072;stSG620073;stSG620074;stSG620075;stSG620076;stSG620077;stSG620078;stSG620079;stSG620080;stSG620081;stSG620082;stSG620083;stSG620084;stSG620085;stSG620086;stSG620087;stSG620088;stSG620089;stSG620090;stSG620091;stSG620092;stSG620093;stSG620094;stSG620095;stSG620096;stSG620097;stSG620098;stSG620099;stSG620100;stSG620101;stSG620102;stSG620103;stSG620104;stSG620106;stSG620107;stSG620108;stSG620109;stSG620110;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 UDPGT;UDPGT 1-8;UGT-1H;UGT1*8;UGT1-08;UGT1.8;UGT1A8S;UGT1H OTTHUMP00000065199;OTTHUMP00000065200;UDP glycosyltransferase 1 family, polypeptide A8;UDP-glucuronosyltransferase 1 family polypeptide A8s;UDP-glucuronosyltransferase 1-8;UDP-glucuronosyltransferase 1-H;UDP-glucuronosyltransferase 1A8 APPROVED protein-coding ENSG00000242366 HGNC:12540 07072 606433 REVIEWED 1349165 UGT2B28 UDP glucuronosyltransferase 2 family, polypeptide B28 This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Two transcript variants encoding different isoforms have been found for this gene. While both isoforms are targeted to the endoplasmic reticulum, only the longer isoform appears to be active. [provided by RefSeq, May 2011] 4 4 4 q13.2 67489536 67504128 + 70146217 70160768 + 69280499 69295050 + 1580863;6480464;6907045;8554872 11300766;19572376;19898482;20056642;21679149 54490 Q9BY64 AB451456;ABBA01022916;AC114786;AF177272;AF177273;AF177274;CH471057;NG_029527;NM_001207004;NM_053039;XM_005265697 AAI56173;AAI57012;AAK31807;AAK31808;AAK31809;BAG70270;EAX05588;EAX05589;EAX05590;NP_001193933;NP_444267;Q9BY64;XP_005265754 Hs.653154 1775968 SHGC-67828 OTTHUMP00000159767;OTTHUMP00000220488;UDP glycosyltransferase 2 family, polypeptide B28;UDP-glucuronosyltransferase 2B28;UDPGT 2B28 APPROVED protein-coding ENSG00000135226 HGNC:13479 05931 606497 REVIEWED 1350116 UGT2B@ UDP glycosyltransferase 2 family, polypeptide B cluster 1639428 7362 HGNC:12543 1344144 UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4 ENCODES a protein that exhibits glucuronosyltransferase activity; INVOLVED IN cellular glucuronidation; estrogen catabolic process; metabolic process; PARTICIPATES IN ascorbate and aldarate metabolic pathway; bile acid transport pathway; O-linked glycan biosynthetic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 4 4 4 q13 67691912 67707654 - 70345883 70391732 - 69480165 69526014 - 1580863;6480464;6907045;8554872 10222050;10376768;10748067;12477932;12806625;12810707;13929;15318931;15319348;15489334;1554722;16344560;16513443;16849011;17263731;18052087;18161889;19343046;19898482;19913121;20139797;20142249;20214802;20628086;20734064;21660508;21988832;22092298;22367021;2492950;3109396;7835904;8333863;8687483;9271674;9295054 7363 D6RGY0;G5E9X8;P06133 ABBA01022917;AC093829;AC108078;AF064200;AF081793;AF135416;AJ005162;AK292748;AK300084;AMYH02009404;AY529122;BC026264;BX494777;CH471057;DB185148;DQ520733;KF457768;NM_001297615;NM_001297616;NM_021139;XM_005265700;XM_005265701;Y00317 AAC32272;AAC95002;AAF78145;AAH26264;AAS47487;ABF47107;ABM86129;BAF85437;BAG61887;CAA06396;CAA68415;EAX05591;EAX05592;NP_001284544;NP_001284545;NP_066962;P06133;XP_005265757;XP_005265758 Hs.285887 1696432;1854117 SHGC-79730;STS-Y00317 HLUG25;UDPGT2B4;UDPGTH1;UGT2B11 OTTHUMP00000220485;OTTHUMP00000220486;UDP glucuronosyltransferase 2B4;UDP-glucuronosyltransferase 2B4;UDP-glucuronyltransferase, family 2, beta-4;UDPGT 2B4;UDPGTh-1;hyodeoxycholic acid;hyodeoxycholic acid-specific UDPGT;udp glycosyltransferase 2 family, polypeptide b4 protein-coding ENSG00000156096 HGNC:12553 02507 600067 VALIDATED 1604978 UGT3A2 UDP glycosyltransferase 3 family, polypeptide A2 ENCODES a protein that exhibits UDP-glycosyltransferase activity; INVOLVED IN cellular response to genistein; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,3',4,4'-tetrachlorobiphenyl (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 5 5 5 p13.2 35920807 35952718 - 36035119 36067023 - 36035017 36066921 - 6480464;8554872 12477932;12975309;16303743;16344560;20819778;22621930 167127 D6RDU1;D6RHY1;Q3SY77 ABBA01024160;AC016612;AK075383;AK300751;AK303154;AMYH02011163;AY358416;BC103924;BC103925;CH471119;CS051177;DB110369;KF457887;NM_001168316;NM_174914;NR_031764 AAI03925;AAI03926;AAQ88782;BAC11583;BAG62419;BAG64257;CAI72084;EAW55931;NP_001161788;NP_777574;Q3SY77 Hs.348941 1681688;1697610;1735516;1785606 D5S1644E;RH102317;RH99081;SHGC-155341 MGC119426;MGC119429 OTTHUMP00000161736;OTTHUMP00000221219;UDP-glucuronosyltransferase 3A2;UDPGT 3A2 protein-coding ENSG00000168671 HGNC:27266 14111 VALIDATED 1601933 UGT3A1 UDP glycosyltransferase 3 family, polypeptide A1 ENCODES a protein that exhibits glucuronosyltransferase activity; UDP-glycosyltransferase activity; INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN UDP-N-acetylglucosamine transferase complex; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; cyclosporin A 5 5 5 p13.2 35838879 35886819 - 35953191 36066639 - 35953089 36001028 - 6480464;8554872 12477932;14702039;18981171;19814657;20379614;20800603;22621930 133688 A8K444;B7Z3N0;B7Z8Q8;D6RHV6;E9PD17;Q6NUS8 ABBA01024159;AC016612;AC112204;AI244517;AK057066;AK091977;AK125803;AK290809;AK296136;AK303770;AK308046;AK315851;AMYH02011162;BC035012;BC068446;CH471119;NM_001171873;NM_152404;XM_005248243;XM_006714441;XM_006714442;XM_006714443 AAH35012;AAH68446;BAB71358;BAF83498;BAF98742;BAH12266;BAH14044;EAW55927;EAW55928;EAW55929;NP_001165344;NP_689617;Q6NUS8;XP_005248300;XP_006714504;XP_006714505;XP_006714506 Hs.254699 1336447;1339935;1697610;1723643;1728489;7186734;7187064;7187361 D5S2025;D5S455;G63682;RH102317;RH118739 FLJ26528;FLJ34658 OTTHUMP00000161735;OTTHUMP00000221783;OTTHUMP00000221784;UDP-glucuronosyltransferase 3A1;UDPGT 3A1 protein-coding HGNC:26625 08175 VALIDATED 1351542 UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7 The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. [provided by RefSeq, Sep 2011] 4 4 4 q13 67303842 67320327 + 69955190 69978705 + 69089472 69112987 + 1580863;5129558;6480464;6907045;7364966;8554872 18674515;19250197 10024527;10222050;10748067;10779377;10833461;11186130;11883901;12185559;12477932;12623074;12629580;12695355;12746330;12811366;14660172;14871856;15001974;15318931;15319348;15320866;15472229;15489334;15611481;15615884;15689421;15815621;16103897;16397224;16466707;16580900;16595916;16849011;17115150;17178267;17241877;17263731;17329852;17339869;17363580;17429314;17440429;17442341;17446261;17579197;17670842;17687269;17706742;17724700;17924828;17965522;17978490;18052087;18161889;18315786;18496127;18569595;18597651;18622261;18622263;18641546;18647858;18719619;18946804;19116784;19225446;19244109;19289110;19343046;19352303;19408577;19424794;19494809;19574343;19628728;19644937;19730281;19779319;19898482;19956635;20008037;20056642;20064729;20142249;20147615;20216122;20297805;20379614;20565459;20567810;20634197;20679960;20734064;20814162;20860463;20973683;21044367;21056984;21123165;21415305;2159463;21856742;21881541;21988832;22028316;22092298;22188362;22240840;22462748;22676193;23099353;23131697;23223495;23230132;23251661;23263737;23686330;23700788;23726609;23965986;24088326;24128937;7835904;8125298;8674824 7364 D6RH08;E9PBP8;P16662 ABBA01022916;AC111000;AF282881;AK223142;AK313190;AMYH02009394;AW614236;AY185169;BC030974;CH471057;J05428;NM_001074;S82485;XM_005265702 AAA36793;AAD14400;AAG01472;AAH30974;AAO65542;AAY41045;ABM84583;ABM86740;BAD96862;BAG36007;EAX05582;EAX05583;EAX05584;EAX05585;NP_001065;P16662;XP_005265759 Hs.654424 2155274;5126547;5126549 D4S3134;SHGC-50220;SHGC-67984 UDPGT 2B9;UDPGT2B7;UDPGTH2;UGT2B9 3,4-catechol estrogen specific;3,4-catechol estrogen-specific UDPGT;OTTHUMP00000159770;OTTHUMP00000218892;OTTHUMP00000218893;UDP glucuronosyltransferase 2B7;UDP-glucuronosyltransferase 2B7;UDP-glucuronosyltransferase 2B9;UDP-glucuronyltransferase, family 2, beta-7;UDPGT 2B7;UDPGTh-2;udp glycosyltransferase 2 family, polypeptide b7 APPROVED protein-coding ENSG00000171234 HGNC:12554 02508 600068 VALIDATED 1351935 UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has moderate glucuronidase activity with phenols. [provided by RefSeq, Jul 2008] 2 2 2 q37 228311215 228402577 + 234590584 234681945 + 233681938 233773299 + 1580863;2317503;2317157;5129558;6480464;6907045;8554872 12806614;17072959;19250197 10836148;11037804;11434514;11465080;11562393;11677206;12010889;12122597;12477932;12732365;12944498;14557274;14672974;15073122;15319294;15682470;15709193;15929176;16030093;16086712;16097053;16143514;16159430;16199544;16620591;16636344;16724991;16969497;17179145;17325733;17406868;17479406;17529886;17558305;17850628;17870518;18021430;18052087;18054330;18223459;18271934;18349289;18556656;18597651;18695635;18990750;19204906;19303655;19349540;19360737;19364970;19414484;19419973;19430315;19712005;19898482;19913121;19956635;19996319;20193274;20297805;20534012;20565459;20567810;20628086;20628391;20634891;20639394;20860988;21440586;21646302;21886157;22085268;22085899;22402308;22511988;22558097;22901212;23281178;23371916;23642732;23789755;24097068;24255116;8467709;9271343;9295054 54577 H0Y8D7;Q5DSZ7;Q9HAW7 ABBA01001949;ABBA01001950;AC006985;AC114812;AF110191;AF110192;AF110193;AF296126;AF296127;AF296128;AF297093;AF434903;AF434904;AF436810;AF461758;AF502567;AMYH02006011;AY435142;BC001521;CS362791;DQ383513;NG_002601;NM_019077;U39570;U89507 AAA80548;AAB81536;AAF03522;AAG30419;AAG43194;AAG43195;AAG43196;AAH01521;AAI46419;AAI53173;AAK97173;AAK97174;AAK97175;AAQ04300;AAQ04301;AAQ04478;AAQ04806;AAQ07456;AAR95643;AAY24023;ABD42926;CAL32687;NP_061950;Q9HAW7 Hs.554822 1659481;1659705;1744505;1763719;1800064;1800110;1800216;1800762;1800878;1801594;1802266;1802632;1802814;1802970;1803414;1803720;1803992;1804900;1805190;1805550;1805676;1806278;1806718;1807176;1807302;1807384;1807916;1808626;1809098;1809344;1809430;1810944;1811256;1811640;1813554;1814642;1815498;1816152;1816240;1816398;1816494;1816652;1818102;1820626;1821006;1821224;1823614;1824346;1824514;1824666;1826004;1826542;1826992;1828384;1828476;1829246;1829248;1829856;1834124;1834178;1834370;1834754;1835388;1836020;1837528;1839962;1841580;1843664;1843844;1844606;1845350;1845616;1845792;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950544;1950546;1950548;1950550;1950552;1950554;1950556;1950558;1950560;1950562;1950564;1950566;1950568;1950570;1950572;1950574;1950576;1950578;1950580;1950582;1950584;1950586;1950588;1950590;1950592;1950594;1950596;1950598;1950600;1950602;1950604;1950606;1950608;1950610;1950612;1950614;1950616;1950618;1950620;1950622;1950624;1950626;1950628;1950630;1950632;1950634;1950636;1950638;1950640;1950642;1950644;1950646;1950648;1950650;1950652;1950654;1950656;1950658;1950660;1950662;1950664;1950666;1950668;1950670;1950672;1950674;1950676;1950678;1950680;1950682;1950684;1950686;1950688;1950690;1950692;1950694;1950696;1950698;1950700;1950702;1950704;1950706;1950708;1950710;1950712;1950714;1950716;1950718;1950720;1950722;1950724;1950726;1950728;1950730;1950732;1950734;1950736;1950738;1950740;1950742;1950744;1950746;1950748;1950750;1950752;1950754;1950756;1950758;1950760;1950762;1950764;1950766;1950768;1950770;1950772;1950774;1950776;1950778;1950780;1950782;1950784;1950786;1950788;1950790;1950792;1950794;1950796;1950798;1950800;1950802;1950804;1950806;1950808;1950810;1950812;1950814;1950816;1950818;1950820;1950822;1950824;1950826;1950828;1950830;1950832;1950834;1950836;1950838;1950840;1950842;1950844;1950846;1950848;1950850;1950852;1950854;1950856;1950858;1950860;1950862;1950864;1950866;1950868;1950870;1950872;1950874;1950876;1950878;1951188;1951306;1951308;2107751;2110791;2150795;2185258;2201276;2201278;2201280;2201282;2201284;2201286;2201288;2201290;2201292;2201294;2201296;2201298;2201300;2201302;2201304;2201306;2201308;2201310;2201312;2201314;2201316;2201318;2201320;2201322;2201324;2201326;2201328;2201330;2201334;2201336;2201340;2201342;2201344;2201346;2201348;2201350;2201352;2201354;2201356;2201364;2201366;2201368;2201370;2201372;2201376;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201394;2201396 AFMB341XG5;D2S2843;ECD00887;ECD00911;ECD00965;ECD01243;ECD01304;ECD01675;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02766;ECD02911;ECD03385;ECD03538;ECD03723;ECD03788;ECD04094;ECD04316;ECD04554;ECD04621;ECD04663;ECD04933;ECD05295;ECD05537;ECD05663;ECD05707;ECD06470;ECD06626;ECD06823;ECD07800;ECD08351;ECD08785;ECD09116;ECD09161;ECD09241;ECD09289;ECD09369;ECD10107;ECD11388;ECD11579;ECD11689;ECD12899;ECD13271;ECD13355;ECD13431;ECD14111;ECD14385;ECD14611;ECD15318;ECD15365;ECD15752;ECD15753;ECD16061;ECD18210;ECD18237;ECD18333;ECD18525;ECD18849;ECD19171;ECD19931;ECD21165;ECD21987;ECD23043;ECD23133;ECD23517;ECD23892;ECD24026;ECD24115;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46123;REN46124;REN46125;REN46126;REN46127;REN46128;REN46129;REN46130;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;REN46138;REN46139;REN46140;REN46141;REN46142;REN46143;REN46144;REN46145;REN46146;REN46147;REN46148;REN46149;REN46151;REN46152;REN46153;REN46154;REN46155;REN46156;REN46157;REN46158;REN46159;REN46160;REN46161;REN46162;REN46163;REN46164;REN46165;REN46166;REN46167;REN46168;REN46169;REN46170;REN46171;REN46172;REN46173;REN46174;REN46175;REN46176;REN46177;REN46178;REN46179;REN46180;REN46181;REN46182;REN46183;REN46184;REN46185;REN46186;REN46187;REN46188;REN46189;REN46190;REN46191;REN46192;REN46193;REN46194;REN46195;REN46196;REN46197;REN46198;REN46199;REN46200;REN46201;REN46202;REN46203;REN46204;REN46205;REN46206;REN46207;REN46208;REN46209;REN46210;REN46211;REN46212;REN46213;REN46214;REN46215;REN46216;REN46217;REN46218;REN46219;REN46220;REN46221;REN46222;REN46223;REN46224;REN46225;REN46226;REN46227;REN46228;REN46229;REN46230;REN46231;REN46232;REN46233;REN46234;REN46235;REN46236;REN46237;REN46238;REN46239;REN46240;REN46241;REN46242;REN46243;REN46244;REN46245;REN46246;REN46247;REN46248;REN46249;REN46250;REN46251;REN46252;REN46253;REN46254;REN46255;REN46256;REN46257;REN46258;REN46259;REN46260;REN46261;REN46262;REN46263;REN46264;REN46265;REN46266;REN46267;REN46268;REN46269;REN46270;REN46271;REN46272;REN46273;REN46274;REN46275;REN46276;REN46277;REN46278;REN46279;REN46280;REN46281;REN46282;REN46283;REN46284;REN46285;REN46286;REN46287;REN46288;REN46289;REN46290;REN46291;REN46448;REN46507;REN46508;RH48302;RH68970;SHGC-147389;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620082;stSG620083;stSG620084;stSG620085;stSG620086;stSG620087;stSG620088;stSG620089;stSG620090;stSG620091;stSG620092;stSG620093;stSG620094;stSG620095;stSG620096;stSG620097;stSG620098;stSG620099;stSG620100;stSG620101;stSG620102;stSG620103;stSG620104;stSG620106;stSG620107;stSG620108;stSG620109;stSG620110;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 UDPGT;UDPGT 1-7;UGT-1G;UGT1*7;UGT1-07;UGT1.7;UGT1G OTTHUMP00000065057;OTTHUMP00000065199;UDP glycosyltransferase 1 family, polypeptide A7;UDP-glucuronosyltransferase 1 family polypeptide A7s;UDP-glucuronosyltransferase 1-7;UDP-glucuronosyltransferase 1-G;UDP-glucuronosyltransferase 1A7 APPROVED protein-coding ENSG00000244122 HGNC:12539 09397 606432 REVIEWED 1343181 UGT8 UDP glycosyltransferase 8 The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011] 4 4 4 q26 112813079 112891640 + 115519611 115598202 + 114598455 114678225 + 1580863;6480464;6907045;8554872 12376738;12477932;12925779;15229398;15489334;16125333;16344560;19125296;19343046;19898482;20332099;20648017;22268729;23118445;24391908;7941321;8125298;8457384;8661025;9125199;9748263 7368 D6RFW2;Q16880 ABBA01063845;ABBA01063846;AC122938;AC127386;AK127970;AK225763;AK294438;AL137342;AMYH02009957;AMYH02009958;BC075069;CH471057;DA140992;DA295156;NM_001128174;NM_003360;U30930;U32370;U62899;XM_006714302;XM_006714303 AAC50565;AAC50815;AAC51187;AAH75069;BAG54609;BAG57681;EAX06307;NP_001121646;NP_003351;Q16880;XP_006714365;XP_006714366 Hs.144197 1678597;2108979;2126699;2142759;5022637;5118147;5491742 D11S2766;D11S3017;SHGC-67299;STS-N34941;UGT8;UGT8_8706;UniSTS:495858 CGT;UGT4 2-hydroxyacylsphingosine 1-beta-galactosyltransferase;OTTHUMP00000163836;OTTHUMP00000219707;UDP-galactose ceramide galactosyltransferase;UDP-galactose-ceramide galactosyltransferase;ceramide UDP-galactosyltransferase;cerebroside synthase;uridine diphosphate glycosyltransferase 8 APPROVED protein-coding ENSG00000174607 HGNC:12555 03186 601291 VALIDATED 1348090 UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenols. [provided by RefSeq, Jul 2008] 2 2 2 q37 228301174 228402583 + 234580544 234681951 + 233671898 233773305 + 1580863;2325161;5129558;6480464;6907045;8554872 19250197;9230212 10335444;10385426;10836148;10946897;11013440;11061796;11370628;11434514;11465080;11677206;11854913;12139570;12402338;12477932;12582161;12623074;12695355;12847094;12944498;1339448;14521259;14550264;14660172;14672974;15057901;15115919;15258099;15284532;15286088;15370961;15470081;15489334;15709193;15712364;15815621;15855726;15864130;16198654;1634050;16344532;16397224;16636344;17072959;17115150;17179145;17264800;17339869;17406868;17440429;17529886;17558305;17576806;17700594;17761781;17924828;17965524;18004212;18052087;18221820;18279479;18430559;18502788;18568343;18597651;18602884;18675828;18695635;18816295;18946804;18981166;1898728;19082692;1910331;19204906;19225446;19349540;19364970;19414484;19419973;19494809;19571435;19644937;19715905;19881262;19898482;19913121;19951703;19956635;20007669;20089735;20147615;20214802;20297805;20379614;20565459;20628086;20628391;20639394;20732626;21072184;2108603;21646302;21856293;21856742;21886157;22031623;22085899;22184458;22210424;22302521;22307138;22492655;22511988;22527346;22558097;22912756;23131697;23184343;23230132;23281178;23371916;23402418;23488780;23527766;23642732;23700788;23721685;23789755;24097068;7715297;7906695;7989045;7989595;8226884;8276413;8280139;8467709;8706880;9295054;9621515;9627603;9639672;9847074 54600 O60656;Q5DSZ5 ABBA01001949;ABBA01001950;AC006985;AC019072;AC114812;AF056188;AF297091;AF297093;AF481810;AF481811;AK313510;AMYH02006011;AY273792;AY282534;AY282535;AY282536;AY282537;AY282538;AY282539;AY282540;AY282541;AY282542;AY326393;AY326394;AY326395;AY345903;AY435144;BC043491;BC058844;CH471063;NG_002601;NM_021027;S55985 AAB19791;AAC31425;AAF03522;AAG29816;AAG30418;AAH58844;AAQ05894;AAQ05895;AAQ84220;AAQ84221;AAQ84222;AAQ84223;AAQ84224;AAQ84225;AAQ84226;AAQ84227;AAQ84228;AAQ84229;AAQ92914;AAQ92915;AAQ92916;AAR10772;AAR95645;AAY24023;BAG36290;EAW71054;NP_066307;O60656 Hs.554822 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HLUGP4;LUGP4;UDPGT;UDPGT 1-9;UGT-1I;UGT1*9;UGT1-09;UGT1-9;UGT1.9;UGT1AI;UGT1I OTTHUMP00000065199;OTTHUMP00000065201;UDP glycosyltransferase 1 family, polypeptide A9;UDP-glucuronosyltransferase 1-9;UDP-glucuronosyltransferase 1-I;UDP-glucuronosyltransferase 1A9 APPROVED protein-coding ENSG00000241119 HGNC:12541 07073 606434 REVIEWED 1344907 UHMK1 U2AF homology motif (UHM) kinase 1 The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 1 1 1 q23.3 135570007 135602458 + 162466964 162499419 + 162497174 162529629 + 1580863;6480464 10574929;12093740;12477932;12782393;15489334;16710414;16978587;17474147;17726090;17984092;18316326;18384876;18414510;19322201;19747464;21399567;21906983;21963094;22505724;23419774;7724523 127933 Q8TAS1 ABBA01047304;AJ536197;AK026668;AK058195;AK292369;AL137257;AL359699;AL834136;AMYH02002039;BC001977;BC014917;BC026046;BC043436;CH471067;CS300608;NM_001184763;NM_144624;NM_175866 AAH14917;AAH26046;BAF85058;BAG10683;CAD60192;CAI46199;CAK32272;EAW90706;EAW90707;EAW90708;EAW90709;NP_001171692;NP_653225;NP_787062;Q8TAS1 Hs.127310 1676742;1772089;1772091;2116367;2138377;2183778;2217524 A006A40;D2S2902;G20662;KIS_3707;RH64673;RH68936;RH98846 DKFZp434C1613;FLJ23015;KIS;KIST;P-CIP2 KIS protein kinase;OTTHUMP00000029529;PAM COOH-terminal interactor protein 2;kinase interacting with leukemia-associated gene (stathmin);serine/threonine-protein kinase Kist APPROVED protein-coding ENSG00000152332 HGNC:19683 12318 608849 REVIEWED 1316354 UHRF1BP1 UHRF1 binding protein 1 ENCODES a protein that exhibits histone deacetylase binding; identical protein binding; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; calcitriol 6 6 6 p21 36314255 36399721 + 34759794 34845291 + 34792017 34880152 + 6480464 12477932;14574404;14702039;15361834;19838195;21068098;21326321;22581228;23000965;23273568;23449627;23740937 54887 H7C1J4;Q6BDS2 AA287944;AB126777;ABBA01038209;ABBA01038210;ABBA01038211;AK001228;AK122918;AK127691;AL033520;AL139100;AMYH02013527;AMYH02013528;AMYH02013529;AMYH02013530;BC026164;BC137120;BC137127;BX640641;CH471081;DB636320;NM_017754;XM_005249199;XM_006715125;XM_006715126 AAI37121;AAI37128;BAD32740;CAE45788;EAX03798;EAX03799;NP_060224;Q6BDS2;XP_005249256;XP_006715188;XP_006715189 Hs.700656 1678539;1695874;1856094;2120070;2169383;2169471;5022578 D1S1423;RH25717;RH48133;SGC32109;SHGC-33104;SHGC-78818;WI-11718 C6orf107;FLJ20302;ICBP90;RP3-349A12.1;dJ349A12.1 CG31653-PA-like;ICBP90 binding protein 1;ICBP90-binding protein 1;OTTHUMP00000016242;UHRF1 (ICBP90) binding protein 1;UHRF1-binding protein 1;ubiquitin-like containing PHD and RING finger domains 1-binding protein 1 protein-coding ENSG00000065060 HGNC:21216 12838 VALIDATED 1604632 UHRF1BP1L UHRF1 binding protein 1-like INTERACTS WITH (+)-catechin; elemental selenium; lead(0) 12 12 12 q23.1 100096138 100201914 - 100422233 100536642 - 100028455 100142864 - 6480464 12477932;20163565;20360068;23275563;23422819;24255178;9734811 23074 A0JNW5;F8VRN3;F8VW65;F8VWX2;F8W1I2;F8W665;H0YHT7 AB014601;ABBA01053263;ABBA01053264;AC010203;AC126474;AK026472;AK125813;AL136821;AL833850;AMYH02027050;AMYH02027051;AMYH02027052;AMYH02027053;BC003391;BC014891;BC026286;BC127017;BX647380;CB988442;CH471054;NM_001006947;NM_015054;XM_005268737;XM_005268738;XM_005268739;XM_005268740;XM_006719297 A0JNW5;AAH03391;AAH14891;AAH26286;AAI27018;BAA31676;CAB66755;CAD38709;CAH56181;EAW97619;EAW97620;NP_001006948;NP_055869;XP_005268794;XP_005268795;XP_005268796;XP_005268797;XP_006719360 Hs.620701 1651601;1654227;1654942;1670582;1687091;1729317;1782568;1856306;2158120 A004U08;D12S69;G64199;RH11194;RH92731;SHGC-112041;STS-T51239;T03497;WI-11888 KIAA0701;SHIP164 OTTHUMP00000243186;OTTHUMP00000243187;OTTHUMP00000243188;UHRF1 (ICBP90) binding protein 1-like;UHRF1-binding protein 1-like;syntaxin 6Habc-interacting protein of 164 kDa protein-coding ENSG00000111647 HGNC:29102 13811 VALIDATED 5128766 UHRF2P1 ubiquitin-like with PHD and ring finger domains 2 pseudogene 1 X X X q13.2 73608882 73611966 + 73325115 73328656 + 74105280 74108821 + 260337 ABBA01059606;ABBA01059607;AF375056;AL359740;AMYH02039775;NG_002342 pseudo HGNC:39565 INFERRED 1352913 UHRF1 ubiquitin-like with PHD and ring finger domains 1 This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014] 19 19 19 p13.3 4846530 4899186 + 4909510 4962165 + 4909498 4962154 + 1580863;6480464;9479148;9479074;8695954;9587430 20442318;23324617;23642229;24035451 10646863;11290415;12477932;12838312;14702039;14993289;15009091;15033738;15057824;15146197;15178447;15361834;15964557;16007129;16195352;16344560;16964243;17065439;17067204;17081983;17370265;17673620;17934516;17967883;18005238;1868030;18772889;18781797;18945682;19056828;19077538;19270723;19322201;19328461;19471022;19491893;19798101;19800870;19851296;19943104;20037778;20198315;20613874;21045206;21067293;21139048;21214517;21252943;21268065;21296067;21351083;21489993;21539450;21611839;21745816;21777816;21808300;21890473;21906983;21963094;22055183;22064703;22096602;22100450;22219067;22285022;22286757;22294699;22330138;22411829;22505724;22552622;22837395;22939629;22945642;23000965;23022729;23023523;23107467;23161542;23245651;23281010;23297342;23463006;23537643;23677994;23752590;23943380;24005809;24013172;24134914;24324066;24368767;24457600;24469333;24486181;24782312;24813945;24816145;8889549 29128 Q96T88 AA026356;AB075601;AB177623;AB177624;ABBA01056030;ABBA01056031;ABBA01056032;ABBA01056033;ABBA01056034;AC027319;AC053467;AC104525;AF129507;AF220266;AF220267;AF274048;AK025578;AK074377;AK289389;AK303361;AK307239;AK314579;AMYH02035310;AY787925;BC039136;BC046179;BC113875;CH471139;CN335888;DA451120;EF560733;HY074450;KF459704;NG_033256;NM_001048201;NM_001290050;NM_001290051;NM_001290052;NM_013282 AAF28469;AAF64067;AAI13876;AAK55744;AAV40831;ABQ59043;ABZ92323;BAB15177;BAC20576;BAF36719;BAF36720;BAF82078;BAG37156;BAG64421;EAW69187;EAW69188;EAW69189;NP_001041666;NP_001276979;NP_001276980;NP_001276981;NP_037414;Q96T88 Hs.108106 1336340;1686724;2181835;5024761;5118506;7185477 D11S3374;D19S216;G22294;RH26361;RH36905 FLJ21925;ICBP90;MGC138707;Np95;RNF106;hNP95;hUHRF1;huNp95 E3 ubiquitin-protein ligase UHRF1;RING finger protein 106;inverted CCAAT box-binding protein of 90 kDa;nuclear phosphoprotein 95;nuclear protein 95;nuclear zinc finger protein Np95;transcription factor ICBP90;ubiquitin-like PHD and RING finger domain-containing protein 1;ubiquitin-like, containing PHD and RING finger domains, 1;ubiquitin-like-containing PHD and RING finger domains protein 1 APPROVED protein-coding ENSG00000276043 HGNC:12556 06992 607990 REVIEWED 1320632 UHRF2 ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012] 9 9 9 p24.1 6350611 6444524 + 6413151 6507054 + 6413151 6507054 + 6480464;8695954 23324617 12176013;12477932;14702039;14741369;15164053;15178429;15231748;15361834;15489334;18029348;19218238;19471022;19505873;19549727;19690564;19818775;20379614;21139048;21598301;21890473;21952639;22018986;22064703;22072112;22411829;22493164;22505724;22673569;22699663;22939629;23000965;23105109;23244124;23275563;23404503;23537643;23833190;24813944;24816145 115426 B1AL33;Q96PU4 AB071698;ABBA01065393;ABBA01065394;ABBA01065395;ABBA01065396;AF274049;AK122730;AK308433;AL133480;AL137728;AL353718;AL833522;AMYH02019095;BC028397;BG709183;CH471071;NM_152896;NR_046386;XR_428418;XR_428419;XR_428420;XR_428421 AAH28397;AAM33799;ABW03403;ABW03737;BAB68317;BAG53694;CAH10389;CAH56383;EAW58743;NP_690856;Q96PU4 Hs.493401 1647328;1739117;1852704;2118520;2178716;5021113 A008T41;D9S1629;RH36184;RH45850;SHGC-53467;WI-14338 DKFZp434B0920;DKFZp686G0837;MGC33463;NIRF;RNF107;RP11-472F14.2;URF2 E3 ubiquitin-protein ligase UHRF2;Np95-like ring finger protein;OTTHUMP00000021047;RING finger protein 107;np95/ICBP90-like RING finger protein;nuclear protein 97;nuclear zinc finger protein NP97;ubiquitin-like PHD and RING finger domain-containing protein 2;ubiquitin-like, containing PHD and RING finger domains, 2;ubiquitin-like-containing PHD and RING finger domains protein 2 APPROVED protein-coding ENSG00000147854 HGNC:12557 18257 615211 REVIEWED 1353152 ULBP3 UL16 binding protein 3 ENCODES a protein that exhibits natural killer cell lectin-like receptor binding; INVOLVED IN natural killer cell activation; natural killer cell mediated cytotoxicity; FOUND IN anchored component of plasma membrane; INTERACTS WITH arsenous acid; diarsenic trioxide; chloroprene (ortholog) 6 6 6 q25 151120359 151124818 - 150383341 150390940 - 150062723 150069194 - 1580863;6480464 11239445;11491531;11754823;11777960;11827464;12477932;12753652;15051759;18394338;19688209;19798433;20219610;20237496;20530255;20596022;21048031;21320692;21689246;21874023;21934670;23319000;24677544 79465 B4DN91;Q9BZM4 AB052908;ABBA01025668;AF304379;AF346596;AK297815;AK302076;AK315275;AL355497;AMYH02014701;AY027538;BC098127;CH471051;NM_024518;XM_005267137;XM_005267138 AAH98127;AAK13049;AAK13083;AAN40839;BAB61050;BAG37687;BAG60153;BAG63465;EAW47772;NP_078794;Q9BZM4;XP_005267194;XP_005267195 Hs.326556 5014051;5037552 D8S2278;D8S2279 N2DL-3;NKG2DL3;RAET1N ALCAN-gamma;NKG2D ligand 3;OTTHUMP00000017411;UL16-binding protein 3;retinoic acid early transcript 1N protein-coding ENSG00000131019 HGNC:14895 16144 605699 PROVISIONAL 1345767 ULBP1 UL16 binding protein 1 ENCODES a protein that exhibits natural killer cell lectin-like receptor binding; INVOLVED IN natural killer cell activation; natural killer cell mediated cytotoxicity; ASSOCIATED WITH Melanoma (inferred); FOUND IN anchored component of plasma membrane; INTERACTS WITH arsenite(3-); arsenous acid; benzo[a]pyrene diol epoxide I 6 6 6 q25 151019759 151029462 + 150285110 150294846 + 149963974 149973710 + 1580863;6480464;8554872 11239445;11491531;11777960;11827464;12477932;12753652;12782710;12847260;15051759;15240696;15489334;16901903;17170457;18394338;19414815;19449444;19500498;19688209;19798433;20008788;20219610;20220060;20237496;20870941;20923822;21048031;21464092;21756848;21764762;21874023;21934670;21994772;22274659;22720156;24677544 80329 Q9BZM6 AB052907;ABBA01025669;AF304377;AF346416;AF346595;AF425265;AK292519;AK316582;AL355497;AMYH02014699;BC035416;CH471051;NM_025218;XM_005267151 AAH35416;AAK13081;AAL76416;AAN32759;AAN40838;BAB61049;BAF85208;BAG38170;EAW47776;NP_079494;Q9BZM6;XP_005267208 Hs.653255 1699722 RH103466 N2DL-1;NKG2DL1;RAET1I NKG2D ligand 1;OTTHUMP00000017410;UL16-binding protein 1;alcan-beta;retinoic acid early transcript 1I protein-coding ENSG00000111981 HGNC:14893 09297 605697 PROVISIONAL 1601999 UIMC1 ubiquitin interaction motif containing 1 ENCODES a protein that exhibits histone binding; K63-linked polyubiquitin binding; INVOLVED IN double-strand break repair; histone H2A K63-linked deubiquitination; negative regulation of transcription, DNA-templated; FOUND IN BRCA1-A complex; nucleus; INTERACTS WITH all-trans-retinoic acid; arsenous acid; benzo[a]pyrene diol epoxide I 5 5 5 q35.2 172067890 172170216 + 176332006 176433795 - 176905005 177022571 - 6480464 12080054;12477932;12954732;14702039;15231748;15302935;15342556;15489334;16169070;17081983;17311814;17416745;17525340;17525341;17525342;17562356;17621610;17643121;17643122;17698038;18077395;18270812;18306035;18519686;18550271;18695986;19013454;19015238;19064572;19202061;19261746;19261748;19261749;19305427;19328070;19415121;19433585;19448621;19471022;19536136;19615732;19766185;19944020;20656689;20656690;20682791;20698691;21139048;21282113;21335604;21406551;21622030;21693764;21857162;21890473;21906983;21963094;21987572;22267201;22350954;22357538;22426463;22505724;22605335;22689573;22703881;22742833;22792303;22990118;23000965;23211528;23264621;23314748;23708797;23993092;24085845;24250222;24627472;24816145;25015289 51720 D6R9M3;D6RC40;D6RCF3;D6RCQ3;D6RDZ5;Q96RL1 ABBA01033476;ABBA01033477;ABBA01033478;AC027317;AC027318;AF113538;AF284749;AF284753;AF349313;AK023044;AK304794;AL137375;AMYH02012819;AMYH02012820;AMYH02012821;AMYH02012822;AMYH02012823;BC006078;BC032561;BP270983;BX537376;CF994701;CH471195;CS300600;CS300601;EF077642;EF077644;NM_001199297;NM_001199298;NM_016290;XM_005265930;XM_005265931;XM_005265932;XM_005265933;XM_005265934;XM_005265935;XM_005265936;XM_006714871;XM_006714872;XM_006714873;XM_006714874 AAF14875;AAG59851;AAG59855;AAH06078;AAH32561;AAK61871;ACE86688;ACE87372;ADZ15437;BAG51153;BAG65544;CAB70716;CAD97618;CAK32264;CAK32265;EAW85041;EAW85042;EAW85043;EAW85044;EAW85045;EAW85046;NP_001186226;NP_001186227;NP_057374;Q96RL1;XP_005265987;XP_005265988;XP_005265989;XP_005265990;XP_005265991;XP_005265992;XP_005265993;XP_006714934;XP_006714935;XP_006714936;XP_006714937 Hs.232721 1340196;1645035;1675341;1690266;1760297;1791083;2145071;2165214;2170155;2170157 A002A19;D17S813E;D6S972;G19848;RH46284;RH98513;SHGC-132904;SHGC-56577;STS_06;WI-14295 RAP80;X2HRIP110 BRCA1-A complex subunit RAP80;OTTHUMP00000161441;OTTHUMP00000223372;OTTHUMP00000223374;receptor associated protein 80;receptor-associated protein 80;retinoid X receptor-interacting protein 110;retinoid x receptor interacting protein;ubiquitin interaction motif-containing protein 1 protein-coding ENSG00000087206 HGNC:30298 11482 609433 VALIDATED 1346628 ULBP2 UL16 binding protein 2 ENCODES a protein that exhibits natural killer cell lectin-like receptor binding; INVOLVED IN natural killer cell activation; natural killer cell mediated cytotoxicity; FOUND IN anchored component of plasma membrane; cell surface; extracellular space; INTERACTS WITH 5-aza-2'-deoxycytidine; arsenous acid; benzo[a]pyrene diol epoxide I 6 6 6 q25 150997804 151005039 + 150255901 150270371 + 149934765 149949235 + 1580863;6480464 11239445;11444831;11491531;11777960;11827464;12477932;12582175;12753652;12782710;12847260;12975309;15051759;15489334;17170457;17391757;18676862;18706445;18791713;19089914;19151770;19424970;19449444;19508374;19671853;19688209;19798433;20008788;20054857;20219610;20237496;20428196;21048031;21224393;21321117;21625447;21764762;21857986;21874023;21934670;21957298;21988832;21994772;22102694;22274659;23202519;23726848;24045107;24677544 80328 Q8IZX9;Q9BZM5 AB052906;ABBA01025669;AF304378;AF321606;AK299895;AL583835;AMYH02014699;AX772820;AY026825;AY358665;BC034689;CH471051;NM_025217;XM_005267150 AAH34689;AAK07688;AAK13082;AAN39920;AAQ89028;BAB61048;BAG61739;CAE06259;EAW47777;EAW47778;NP_079493;Q9BZM5;XP_005267207 Hs.656778 ALCAN-alpha;N2DL-2;N2DL2;NKG2DL2;RAET1H NKG2D ligand 2;OTTHUMP00000017408;UL16-binding protein 2;retinoic acid early transcript 1 H;retinoic acid early transcript 1H protein-coding ENSG00000131015 HGNC:14894 16143 605698 PROVISIONAL 1344835 ULK1 unc-51 like autophagy activating kinase 1 ENCODES a protein that exhibits protein complex binding; protein serine/threonine kinase activity; Rab GTPase binding; INVOLVED IN neuron projection development; positive regulation of macroautophagy; protein autophosphorylation; PARTICIPATES IN mTOR signaling pathway; autophagy pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN autophagic vacuole; cytosol; extrinsic component of autophagic vacuole membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 12 12 12 q24.3 132008428 132026099 + 132379279 132407707 + 131894734 131923162 + 1580863;1643329;4889529;6480464;6484113;6907045;8554872 15325588;20034776 11076863;11146101;12477932;14702039;15014045;16940348;17081983;17192257;17353931;17595159;18007665;18936157;19211835;19225151;19258318;19287211;19690328;20562859;20921139;21072212;21205641;21241894;21258367;21460630;21460634;21475306;21518141;21560199;21795849;21819378;22321011;22539723;22585231;22613832;22885598;23027865;23043107;23078367;23262492;23291726;23524951;23716696;23849170;23863160;24013547;24066173;24119841;25040165;8889548;9693035;9872452 8408 O75385 AB018265;ABBA01032798;ABBA01032799;AC131009;AF045458;AK095774;AK128333;AMYH02027572;AMYH02027573;BI822269;BU729635;CF131673;CH471054;HI574274;NM_003565 AAC32326;AAI11604;BAA34442;CBX47626;EAW98529;NP_003556;O75385 Hs.47061 1677722;2108631;2170571 IB2452;RH93440;ULK1_8802 ATG1;ATG1A;FLJ38455;FLJ46475;UNC51;Unc51.1;hATG1 ATG1 autophagy related 1 homolog;OTTHUMP00000237722;autophagy-related protein 1 homolog;serine/threonine-protein kinase ULK1 APPROVED protein-coding ENSG00000177169 HGNC:12558 11933 603168 VALIDATED 1349871 ULK3 unc-51 like kinase 3 ENCODES a protein that exhibits protein serine/threonine kinase activity; INVOLVED IN negative regulation of smoothened signaling pathway; positive regulation of smoothened signaling pathway; protein autophosphorylation; PARTICIPATES IN autophagy pathway; mTOR signaling pathway; FOUND IN cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; amiodarone 15 15 15 q24.1 52078488 52085567 - 75128459 75135552 - 74836116 74843346 - 1580863;6480464;6907045 12471243;12477932;15489334;19141860;19279323;19430479;19878745;20479155;20643644;20959405;21045733;21139048;21490707;21876539;21909115;22939629;23383273;23648065 25989 B4DDG2;B4DFS6;B4DFT0;H3BMW8;H3BP85;H3BPN6;H3BS27;H3BT78;H3BTS3;H3BV76;Q6PHR2 ABBA01060505;AC091230;AI677802;AK075047;AK293181;AK293650;AK294241;AK294245;AK294251;AK298879;AK299380;AK316102;AL117482;AL360256;AMYH02030798;BC036117;BC048289;BC056423;BC157884;BI829133;BQ927030;CH471136;NM_001099436;NM_001284364;NM_001284365;NR_104307;NR_104308;NR_104309;XM_005254289;XM_005254290;XR_429447;XR_429448 AAI57885;BAG56723;BAG57102;BAG57537;BAG57541;BAG57547;BAG60995;BAG61369;BAH14473;CAB55955;CAB96176;EAW99302;EAW99304;EAW99305;NP_001092906;NP_001271293;NP_001271294;Q6PHR2;XP_005254346;XP_005254347 Hs.513034 1650254;1666252;1796720 D15S1197;SCAMP2_798;STS-W74766 DKFZp434C131;FLJ90566 serine/threonine-protein kinase ULK3;unc-51-like kinase 3 APPROVED protein-coding ENSG00000140474 HGNC:19703 15609 613472 VALIDATED 1353055 ULK4P1 ULK4 pseudogene 1 15 15 15 q13.3 492 1108 - 32698812 32727250 - 32406611 32435049 - 11829490;12477932;15489334 89838 ABBA01184817;AC135983;AC139426;BC071630;BC137210;NR_026858 Hs.574255 D-X;FAM7A1 APPROVED pseudo ENSG00000261279 HGNC:15775 PREDICTED 5686929 ULK4-IT1 ULK4 intronic transcript 1 (non-protein coding) p22.1 16344560 100861509 DB360966 miscrna HGNC:41413 1343211 ULK4P2 ULK4 pseudogene 2 15 15 q13.2 30864758 30892911 + 30572555 30600708 + 11829490;12477932;15489334;16572171 100288380 AC026150;AC243687;BC137222;NR_027470 Hs.642616 D-X;FAM7A2 APPROVED pseudo ENSG00000260128 HGNC:15776 VALIDATED 1347776 ULK4P3 ULK4 pseudogene 3 15 15 q13.2 30395935 30423951 + 30103732 30131748 + 11829490;12477932 89837 AC120045;AC243790;AC243949;BC023564;BC071855;NR_026859 Hs.510848 D-X;FAM7A3 APPROVED pseudo ENSG00000178081 HGNC:15777 VALIDATED 1346964 ULK4 unc-51 like kinase 4 ENCODES a protein that exhibits ATP binding (inferred); protein kinase activity (inferred); protein serine/threonine kinase activity (inferred); INVOLVED IN microtubule cytoskeleton organization; regulation of JNK cascade; regulation of MAPK cascade; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH afimoxifene; benzo[a]pyrene; ethyl methanesulfonate 3 3 3 p22.1 41226416 41942816 - 41288090 42056080 - 41246599 41962504 - 737633;1580863;6480464;8554872 12477932 10737800;11181995;11829490;12471243;14702039;15489334;19430479;20379614;20414254;21045733;21832049;21909110;21988832;22120009;22939629;22945773;23502783;23972371;24284070;24447338 54986 B3KSE5;C9JVZ3;Q96C45 ABBA01024776;ABBA01024777;ABBA01024778;ABBA01024779;ABBA01024780;ABBA01024781;ABBA01024782;ABBA01024783;ABBA01024784;ABBA01024785;ABBA01024786;ABBA01024787;ABBA01024788;AC097356;AC099059;AC099537;AC104305;AC104307;AC137935;AK000581;AK093396;AK304341;AL133104;AMYH02006602;AMYH02006603;AMYH02006604;AMYH02006605;AMYH02006606;AMYH02006607;AMYH02006608;AMYH02006609;AMYH02006610;AMYH02006611;AMYH02006612;AMYH02006613;AMYH02006614;AMYH02006615;AMYH02006616;AMYH02006617;AMYH02006618;AW504756;BC014794;BC018795;BC040739;BF855180;BQ707161;BX096790;CH471055;DC417397;KF510232;NM_017886;XM_005265261;XM_005265262;XM_006713215;XR_427279 AAH14794;AAH40739;AAI60098;BAA91270;BAG52707;BAG65186;CAB61411;EAW64629;EAW64630;EAW64631;EAW64632;EAW64633;EAW64634;EAW64635;EAW64636;NP_060356;Q96C45;XP_005265318;XP_005265319;XP_006713278 Hs.656192 1337745;1693708;1709634;1711172;1716091;1739305;1753131;1757711;1761809;1762529;1765121;1773697;1776714;1784906;2130294;2143742;2154030;2157729;2158501;2168498;2171209;2180902;2187767 D3S1529;D3S2407;D3S3130;D3S3152;D3S3295E;G16649;G35054;G69450;L18078;RH121010;RH45632;RH70465;SHGC-145766;SHGC-146340;SHGC-146346;SHGC-148642;SHGC-33763;SHGC-58623;SHGC-76867;SHGC-83464;SHGC-83753;SHGC-85180;SHGC-85329 DKFZp434E1822;FAM7C1;FLJ20574;REC01035 OTTHUMP00000209481;serine/threonine-protein kinase ULK4;unc-51-like kinase 4 APPROVED protein-coding ENSG00000168038 HGNC:15784 07928 VALIDATED 7248298 UMAD1 UBAP1-MVB12-associated (UMA) domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred) 7 7 7 p21.3 7648774 7886583 + 7680342 7918854 + 7640711 7879223 + 8554872 12690205;16344560;20448139;21139048;21216879;23251661 729852 C9J7I0 ABBA01056521;AC004948;AC006465;AC007161;AC009473;AI565121;AK027125;AK295253;AMYH02015193;AMYH02015194;AMYH02015195;AMYH02015196;CH236948;DA576342;DA678734;DC313244;DC340488;DC354992;DC368552;KF458367;NM_001302348;NM_001302349;NM_001302350;NR_034084 BAG58242;EAL24303;NP_001289277;NP_001289278;NP_001289279 Hs.652371 RPA3-AS1 RPA3 antisense RNA 1;uncharacterized protein LOC729852 APPROVED protein-coding HGNC:48955 VALIDATED 1353705 UMODL1-AS1 UMODL1 antisense RNA 1 INTERACTS WITH atrazine 21 21 21 q22.3 28669792 28676192 - 43522244 43528644 - 42102134 42108534 - 10830953;12477932;14702039;15489334 150147 Q8N2C9 ABBA01014177;AK090790;AMYH02037870;AP001621;BC063412;CH471079;NR_027243 BAC03519;EAX09577;Q8N2C9 Hs.558646 1653720;1660667 SHGC-52060;WI-18470 C21orf128;FLJ33471 APPROVED ncrna ENSG00000184385 HGNC:23821 10740 VALIDATED 1351162 UMODL1 uromodulin-like 1 ENCODES a protein that exhibits calcium ion binding (inferred); peptidase inhibitor activity (inferred); INVOLVED IN adipose tissue development (inferred); cellular response to gonadotropin-releasing hormone (inferred); multicellular organismal reproductive process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); external side of plasma membrane (inferred); extracellular space (inferred); INTERACTS WITH (+)-catechin; 3-methylcholanthrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 21 21 21 q22.3 28638970 28710624 + 43483068 43563105 + 42062959 42142995 + 6480464;8554872 10830953;12477932;14702039;15194491;16026467;18535602;18854154;20237496;20379614;22857148;23251661;23382691 89766 H0Y3S4;H0Y856;H0Y880;H0Y887;H0Y898;H0Y8E5;Q5DID0 AB051810;AB051811;AB096965;AB096966;AB096967;AB096968;AB096969;AB096970;AB096971;AB096972;AB096973;ABBA01014177;ABBA01014178;AK093654;AK124223;AMYH02037870;AP001620;AP001621;AP001622;AY771619;AY771620;BC039531;CH471079;KF510566;NM_001004416;NM_001199527;NM_001199528;NM_173568 AAI67790;AAX14814;AAX14815;BAC04211;BAD23798;BAD23799;BAD23800;BAD23801;BAD23802;BAD23803;BAD23804;BAD23805;BAD23806;BAD23807;BAD23808;EAX09576;NP_001004416;NP_001186456;NP_001186457;NP_775839;Q5DID0 Hs.242520 1653720;1660667;2189533 SHGC-52060;Umodl1;WI-18470 OTTHUMP00000109310;OTTHUMP00000109311;OTTHUMP00000109312;OTTHUMP00000109313;olfactorin protein-coding ENSG00000177398 HGNC:12560 08775;15610 613859 VALIDATED 1320930 ULK2 unc-51 like autophagy activating kinase 2 This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008] 17 17 17 p11.2 17087510 17184615 - 19674143 19771239 - 19770830 19867926 - 4889529;6480464;6484113;6907045;8554872 20034776 10557072;12471243;12477932;14702039;14702098;15014045;15489334;16169070;16344560;18029348;18936157;19225151;20379614;20562859;21282530;21475306;21988832;23043107;9734811 9706 K7EIU2;K7EKK9;K7EP89;Q8IYT8 AB014523;ABBA01054592;ABBA01054593;ABBA01054594;ABBA01054595;AC005722;AC015726;AK098316;AK314345;AL080134;AMYH02033170;AMYH02033171;AMYH02033172;AMYH02033173;AMYH02033174;BC034988;BC039310;CH471212;DA105030;KF456258;NM_001142610;NM_014683;XM_006721606 AAH34988;BAA31598;BAG53611;EAW50910;EAW50911;EAW50912;NP_001136082;NP_055498;Q8IYT8;XP_006721669 Hs.168762 1644828;1665739;1676352;1734400;1734460;2115059;2182468;2220618;5020946;5022200;5022578;5022651;5024413 D11S2921;D17S1378E;D17S1425E;D17S2045;D1S1423;L17877;L17971;L18426;RH46889;RH66381;RH80980;UniSTS:486037;WI-16063 ATG1B;KIAA0623;Unc51.2 OTTHUMP00000065847;OTTHUMP00000065848;serine/threonine-protein kinase ULK2 APPROVED protein-coding ENSG00000083290 HGNC:13480 10556 608650 REVIEWED 1323612 UMPS uridine monophosphate synthetase This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 3 3 3 q13 122856384 122875279 + 124449213 124468120 + 124730366 124749273 + 1580863;1599702;5132591;5133412;5132278;6480464;6907045;7240710;8554872;8699517 1476792;15096496;3907307;9042911 11730338;12477932;14562021;15489334;15890648;15999119;16142362;16169070;16328050;16818689;17237621;17505114;17549346;17607371;17623298;17854773;18184586;18597678;18633253;18854154;18949394;19020740;19020767;19074750;19082440;19307741;19332728;19562503;19615732;19724871;20112501;20453000;20527751;20647221;20647710;20665215;21139048;21145461;21163940;21631301;21906983;21963094;21988832;22249354;22641663;22931617;22939629;24158442;24816145;2624233;2767686;3279416;6574608;6893554;8069469 7372 A8K5J1;B5LY70;E9PFD2;F2Z303;F2Z3P2;F8WDG4;P11172 AB041359;AB062285;ABBA01016433;AC022336;AK291306;AL080099;AMYH02007563;AY691629;BC000364;BC007511;CH471052;CR456787;D86227;D86228;D86230;EU921886;EU921887;EU921888;EU921889;EU921890;EU921891;EU921892;EU921893;EU921894;EU921895;HG496004;J03626;M36661;NG_017037;NM_000373;NR_033434;NR_033437 AAA61255;AAA61256;AAH00364;AAH07511;AAT85801;ACE86911;ACE87598;ACH48224;ACH48225;ACH48226;ACH48227;ACH48228;ACH48229;ACH48230;ACH48231;ACH48232;ACH48233;BAA19920;BAA19921;BAA19923;BAB20663;BAB93468;BAF83995;CAB45710;CAG33068;EAW79407;EAW79408;NP_000364;P11172 Hs.2057 1648538;1651629;1685267;1709530;1772083;1797022;1850473;2129189;5022578 D1S1423;RH47989;RH65688;RH69886;SHGC-30469;SHGC-81841;STS-J03626;STS-W56547;UMPS_1123 OPRT;RP11-71H17.9 OMPdecase;OPRTase;OTTHUMP00000215261;OTTHUMP00000215266;UMP synthase;orotate phosphoribosyltransferase;orotidine 5'-phosphate decarboxylase;uridine 5'-monophosphate synthase;uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) APPROVED protein-coding HGNC:12563 02022 258900;613891 REVIEWED 1345863 UNC119B unc-119 homolog B (C. elegans) ENCODES a protein that exhibits lipid binding; INVOLVED IN cilium morphogenesis; lipoprotein transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN ciliary transition zone; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; ethyl methanesulfonate 12 12 12 q24.31 120782096 120795706 + 121148238 121161443 + 120710435 120723640 + 6480464;8554872 11181995;12477932;14702039;15489334;16541075;16751776;19913121;20628086;21886157;22939629 84747 A6NIH7;Q69YW6 ABBA01020134;AC069234;AK057021;AK126367;AL137327;AMYH02027380;BC004815;BC070088;CH471054;DA324219;NM_001080533 A6NIH7;AAH04815;ABM84260;ABM87649;ABM87661;ABW03603;ABW03606;BAG54314;CAH10700;EAW98215;EAW98216;EAW98217;NP_001074002 Hs.127610 1683715;1727451;1767393;2140927 A007C39;G15658;G62983;RH44866 MGC5139;POC7B OTTHUMP00000240401;POC7 centriolar protein homolog B;protein unc-119 homolog B;unc119 homolog B protein-coding ENSG00000175970 HGNC:16488 VALIDATED 4890734 UGT2A3P7 UDP glucuronosyltransferase 2 family, polypeptide A3 pseudogene 7 4 4 4 67729502 67730153 - 70383446 70384097 - 69517728 69518379 - 100422023 ABBA01022917;AC093829;AMYH02009404;NG_025126 pseudo HGNC:39429 INFERRED 1343859 UNC119 unc-119 homolog (C. elegans) This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 23732750 23738671 - 26873725 26879647 - 28546707 28552628 - 70051;1580863;6480464;7240710;8699517;8554872 8576185 10329014;11303027;12477932;12496276;12527357;14702039;14757743;15489334;16169070;16189514;16341674;17579091;19592652;19781630;20220094;20801516;21642972;21697133;21712387;21900206;22123847;22729960;22960633;22990118;23072788;23227982;23535298;9538874;9761287 9094 C9JSK0;J3QQT8;K7EJU3;K7EN86;Q13432 AB593014;ABBA01015054;AC005726;AF028788;AF028789;AF125997;AF125998;AK124531;AK292329;AMYH02033223;BC027176;BM848267;BX641031;BX647747;BX648530;CH471159;NG_012302;NM_005148;NM_054035;U40998 AAC50360;AAD01875;AAD01876;AAD31422;AAH27176;BAF85018;BAG54049;BAJ83969;CAE46019;EAW51093;EAW51094;EAW51095;EAW51096;EAW51097;EAW51098;NP_005139;NP_473376;Q13432 Hs.410455 1663292;1686344;1689640;1778430;2108633 D17S2156;G20535;RH12447;RH17002;UNC119_8895 HRG4;IMD13;POC7;POC7A OTTHUMP00000163438;OTTHUMP00000163439;OTTHUMP00000163440;POC7 centriolar protein homolog A;protein unc-119 homolog A;retinal protein 4 APPROVED protein-coding ENSG00000109103 HGNC:12565 04927 604011;615518 REVIEWED 734027 UNC13B unc-13 homolog B (C. elegans) This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35093995 35337320 + 35161976 35405334 + 35161979 35405337 + 1580863;6480464;8554872 10233166;10488064;11343654;11797009;12163476;12477932;12871971;14593078;15217342;15342556;15466010;16138900;16169070;18633107;19492809;19615732;19641095;20379614;21812969;21890473;22990118;23000965;24043286;8999968;9195900;9607201;9704016;9736751 10497 B1AM27;F8W8M9;O14795;Q4LE73 AB209998;ABBA01064994;ABBA01064995;ABBA01064996;ABBA01064997;AF020202;AK296836;AL160274;AL353795;AL354669;AMYH02019455;AMYH02019456;AMYH02019457;AMYH02019458;BC111781;BC111800;BP236693;CH471071;EF139849;NG_033014;NM_006377;XM_006716716 AAC19406;AAI11782;AAI11801;BAE06080;BAG59406;EAW58383;EAW58384;NP_006368;O14795;XP_006716779 Hs.493791 1338246;1660863;1708282;1755093;1770403;1770405;2108981;2142659;5491535 A005R04;D9S1079;D9S2099;D9S761;G20429;MARC_17336-17337:1021394418:1;SHGC-142025;SHGC-79407;UNC13B_9123 MGC133279;MGC133280;MUNC13;UNC13;UNC13-like;Unc13h2;hmunc13;munc13-2;unc-13-like OTTHUMP00000021327;OTTHUMP00000021328;homolog of rat Munc13 (diacylglycerol-binding);unc-13 homolog B APPROVED protein-coding ENSG00000198722 HGNC:12566 05785 605836 REVIEWED 1354378 UNC13C unc-13 homolog C (C. elegans) ENCODES a protein that exhibits diacylglycerol binding (inferred); metal ion binding (inferred); INVOLVED IN synaptic transmission (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN plasma membrane (ortholog); INTERACTS WITH (-)-demecolcine; ethyl methanesulfonate; formaldehyde 15 15 15 q21.3 31200300 31816005 + 54270557 54920806 + 53978362 54628608 + 1580863;6480464;8554872 12477932;14702039;15217342;17903293;18519826;19240061;19734545;20379614;22542470;23599027 440279 H0YL13;H3BRP8;Q8NB66 ABBA01039037;ABBA01039038;ABBA01039039;ABBA01039040;AC010867;AC022302;AC034103;AC068711;AC084759;AK054981;AK091491;AK293996;AL834407;AMYH02030464;AMYH02030465;AMYH02030466;AMYH02030467;AMYH02030468;AMYH02030469;AMYH02030470;BC036420;BC039494;BC040740;KF456048;KF456049;KF456050;KF456055;KF510408;NM_001080534;XM_005254394;XM_005254395 AAH40740;AAI56425;BAB70836;BAC03675;BAG57359;CAD39069;NP_001074003;Q8NB66;XP_005254451;XP_005254452 Hs.657273 1654426;1690141;1703446;1703452;1706852;1708712;1755611;1763701;1789156;1982002;2075770;2120008;2145370;2147497;2171314;2182271;5494151 D15S1282;D15S1315;G65711;REN109087;REN61901;RH1643;RH77836;RH94172;SHGC-142463;SHGC-147375;SHGC-80909;SHGC-81502;SHGC-82532;SHGC-82558;STS-Z41286;WI-20508;fb57b01 DKFZp547H074 Munc13-3;protein unc-13 homolog C;unc-13-like 3 protein-coding HGNC:23149 614568 PROVISIONAL 1604204 UNC13D unc-13 homolog D (C. elegans) This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 70413355 70430847 - 73823306 73840798 - 75827225 75844717 - 6480464;7240710;8554872;8699517 11214971;12477932;14622600;14699162;14702039;15466010;15489334;15548590;16248985;16278825;16630545;16778144;16825436;17237785;17993578;18240215;18311812;18432499;18453599;18492689;18710388;18759271;19120489;19131769;19704116;19966785;20015888;20301617;20823128;21139048;21370424;21646258;21674762;21693760;21755595;21881043;21890473;21931115;21987572;22271450;22508512;22863883;22939629;23180437;23672263;23810987;23840885;23924873;24043286;24470399;24816145;24842371 201294 K7EIH3;K7ELN2;K7EM66;K7EMK8;K7EN29;K7EN81;K7EQ37;Q70J99 ABBA01028767;ABBA01028768;AC087289;AJ578444;AK024474;AK300316;AK301529;AMYH02034001;AW451853;BC024740;BC067084;CH471099;NG_007266;NM_199242;XM_006721762;XM_006721763;XM_006721764 AAH67084;ACE86429;ACE87104;BAB15764;BAG62068;BAG63031;CAE17516;EAW89322;EAW89323;EAW89324;NP_954712;Q70J99;XP_006721825;XP_006721826;XP_006721827 Hs.41045 1694466;2110035;5015619;5022578;5024039;5037552;5118444 D11S3114;D11S3316;D16S325;D1S1423;D8S2279;G42954;WBP2_9370 FHL3;HLH3;HPLH3;Munc13-4 protein unc-13 homolog D APPROVED protein-coding ENSG00000092929 HGNC:23147 10598 608897;608898 REVIEWED 1313830 UNC45B unc-45 homolog B (C. elegans) UNC45B plays a role in myoblast fusion and sarcomere organization (Price et al., 2002 [PubMed 12356907]).[supplied by OMIM, Mar 2008] 17 17 17 q12 30385024 30426539 + 33474787 33516364 + 35147794 35189345 + 1580863;6480464;8554872 12356907;12477932;14702039;15489334;20379614;22751105;25036637 146862 Q8IWX7 ABBA01011228;AC022916;AF539794;AK095929;AL832355;AL833281;AMYH02033344;AMYH02033345;BC101062;BC101063;BX647642;CH471147;NM_001033576;NM_001267052;NM_173167;XM_005257926 AAI01063;AAI01064;AAO13384;EAW80162;EAW80163;EAW80164;NP_001028748;NP_001253981;NP_775259;Q8IWX7;XP_005257983 Hs.379636 1674351;1699368;1791243;1791245 AA445617;RH103271;STS-AA039430;UniSTS:259446 CMYA4;FLJ38610;MGC119540;MGC119541;SMUNC45;UNC45 OTTHUMP00000163855;UNC-45B;cardiomyopathy associated 4;protein unc-45 homolog B;striated muscle UNC45 APPROVED protein-coding ENSG00000141161 HGNC:14304 10840 611220 VALIDATED 737075 UMOD uromodulin The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013] 16 16 16 p12.3 19493555 19513244 - 20344373 20364200 - 20333051 20352878 - 737832;1580863;2324705;6480464;7240710;8554872;8699517 10925066;12471200 10330352;10765940;11730273;11932463;11982485;12477932;12624657;12629136;12832729;12900848;14531790;14569098;14570709;14570881;14702039;14907962;15033942;15086896;15253706;15266028;15327389;15489334;15575003;15589826;15785410;15983957;16164624;16344560;16982955;17010121;17065110;17151335;17245395;18025791;18047931;18068104;18351395;18375198;18409515;18409531;18455532;18600511;18651238;18830570;18846391;18950917;19056867;19203555;19430482;19465746;19959715;20075439;20151160;20172860;20222955;20237496;20301530;20383146;20624112;20686651;20948228;21067798;21081491;21082022;21109754;21332338;21358122;21473025;21546974;21738052;21868615;22034507;22087292;22117067;22132988;22237754;2249987;22538938;22592667;22693617;22776760;22797727;22947327;22997256;23009031;23060289;23197950;23344472;23421394;23577616;23586973;23723338;23826568;23988501;2409603;24185693;24577984;24667016;24697042;3453112;3498215;7028707;7873609;8323280;8382593;8397318;9873244;9884403 7369 I3L1A9;I3L1M3;I3L2J2;I3L2K2;I3L3E0;I3L3Z4;I3L4B0;I3L4Y6;P07911;X6RBG4 ABBA01028278;AC106796;AK055722;AK091961;AK096043;AK127643;AK127648;AMYH02031661;AY061638;AY162970;BC035975;BF593229;BG428950;CH471186;DA634392;M15881;M17778;NG_008151;NM_001008389;NM_001278614;NM_003361;XM_006721085;XM_006721086;XM_006721087;XM_006721088;XM_006721089 AAA36798;AAA36799;AAH35975;AAL27853;AAO64446;BAC87070;BAG51560;BAG52451;BAG53202;BAG54541;EAW50314;EAW50315;NP_001008390;NP_001265543;NP_003352;P07911;XP_006721148;XP_006721149;XP_006721150;XP_006721151;XP_006721152 Hs.654425 1335400;1339301;1339699;1342132;1645968 D16S3036;D16S3113;D16S3217;D16S401;D16S500 ADMCKD2;FJHN;HNFJ;HNFJ1;MCKD2;THGP;THP OTTHUMP00000162212;OTTHUMP00000162213;Tamm-Horsfall glycoprotein;tamm-Horsfall urinary glycoprotein;uromodulin (uromucoid, Tamm-Horsfall glycoprotein);uromucoid APPROVED protein-coding ENSG00000169344 HGNC:12559 11771 162000;191845;603860;609886 REVIEWED 1603630 UNC45A unc-45 homolog A (C. elegans) UNC45A plays a role in cell proliferation and myoblast fusion, binds progesterone receptor (PGR; MIM 607311) and HSP90 (HSPCA; MIM 140571), and acts as a regulator of the progesterone receptor chaperoning pathway (Price et al., 2002 [PubMed 12356907]; Chadli et al., 2006 [PubMed 16478993]).[supplied by OMIM, Mar 2008] 15 15 15 q26.1 67882608 67906541 + 91473410 91497323 + 90930180 90954093 + 6480464 12356907;12477932;14702039;15231748;15489334;16478993;17081983;17353931;17872978;18285346;19615732;19875381;20473970;20562859;21139048;21182205;21802425;21890473;21906983;22190034;22505724;22863883;22939629;23000965;23455922;24250222;24816145;25036637 55898 Q9H3U1 AB014729;AB014736;ABBA01053071;ABBA01053072;ABBA01053073;AC068831;AK000905;AK125523;AK125721;AK291622;AK293538;AK296964;AK302979;AL357532;AL357537;AL357538;AMYH02031055;BC006214;BC010995;BC037992;BC045635;CH471101;NM_001039675;NM_018671;XM_005254963 AAH06214;AAH10995;AAH37992;AAH45635;ABM83879;ABM87199;BAA91418;BAB20266;BAB20273;BAF84311;BAG54239;BAG57020;BAG59508;BAG64122;CAB93428;CAB93429;EAX02127;EAX02128;EAX02129;NP_001034764;NP_061141;Q9H3U1;XP_005255020 Hs.389461 1740613;2112938;2181939;2218032;5015861;5024756;7185938 D10S16;D15S1152;D15S1226;D15S1394E;RH80030;SMAP-1_3653 FLJ10043;GC-UNC45;GCUNC-45;GCUNC45;IRO039700;SMAP-1;SMAP1;UNC-45A OTTHUMP00000180562;OTTHUMP00000180563;general cell UNC45;smooth muscle cell associated protein-1;smooth muscle cell-associated protein 1;unc-45 homolog A APPROVED protein-coding ENSG00000140553 HGNC:30594 18070 611219 VALIDATED 1343022 UNC50 unc-50 homolog (C. elegans) ENCODES a protein that exhibits RNA binding (inferred); INVOLVED IN cell surface receptor signaling pathway (inferred); protein transport (inferred); FOUND IN Golgi membrane (inferred); integral component of membrane (inferred); nuclear inner membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; all-trans-retinoic acid 2 2 2 q11.2 93428766 93438703 + 99225032 99234978 + 98608571 98618515 + 634436;6480464 10980252 11042152;11230166;12477932;17004066;17207965;21139048;21890473;8125298 25972 H7BYK3;H7C3J5;J3KQ47;Q53HI1 ABBA01073966;AC010134;AC064860;AF077038;AK222599;AL080115;AMYH02004385;AY017215;AY251534;BC017019;BC025992;BC039078;BC091481;CH471127;CR533464;NM_014044;XM_005263913;XM_006712403;XM_006712404 AAD27771;AAH17019;AAH25992;AAH39078;AAH91481;AAK08987;AAP20057;AAX93232;AAY14975;ADQ31836;BAD96319;CAB45714;CAG38495;EAX01900;EAX01901;EAX01902;NP_054763;Q53HI1;XP_005263970;XP_006712466;XP_006712467 Hs.13370 1734994;2116321;5491276 A004H48;D2S1730E;MARC_7289-7290:992008307:1 DKFZp564G0222;GMH1;HSD23;PDLs22;UNCL;URP;hGMH1 OTTHUMP00000161121;OTTHUMP00000203134;OTTHUMP00000203135;geal-6 membrane-associated high-copy suppressor 1;periodontal ligament-specific protein 22;protein GMH1 homolog;protein unc-50 homolog;unc-50 related;uncoordinated-like protein protein-coding ENSG00000115446 HGNC:16046 18259 VALIDATED 1345956 UNC13A unc-13 homolog A (C. elegans) This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012] 19 19 19 p13.11 17613819 17700754 - 17712137 17799123 - 17601328 17688314 - 1580863;2311087;5686384;5686382;5686390;6480464;8554872 18787382;19295123;19734901;20385924 10470851;12421765;12477932;12871971;14702039;14734538;15123597;15217342;16344560;19996097;20379614;22118904;22248876;22921269;22959728;23251661;23801330;24250222;24256812;24931836 23025 F8VZH8;F8W059;F8W0P6;H7BXE5;Q9UPW8 AB028955;ABBA01051217;ABBA01051218;ABBA01051219;ABBA01051220;AC008761;AK055065;AMYH02035709;AMYH02035710;AMYH02035711;AMYH02035712;BC011004;DA236619;NM_001080421;R60139;XM_006722692 AAI72223;BAA82984;NP_001073890;Q9UPW8;XP_006722755 Hs.164502 1711230;1847153;1847155;5018935;5022578;5022651 A006C03;D11S2921;D1S1423;G20690;RH15984;SHGC-89041 KIAA1032;Munc13-1 OTTHUMP00000225261;OTTHUMP00000240856;OTTHUMP00000240857;OTTHUMP00000240858;protein unc-13 homolog A APPROVED protein-coding ENSG00000130477 HGNC:23150 609894 REVIEWED 7240921 UNC5B-AS1 UNC5B antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 10 q22.1 66259463 66260064 - 72976981 72977985 - 71217224 71218228 - 8554872 11181995 728978 ABBA01019638;AI871120;AL359384;AL359832;AMYH02023296;CH471083;CK819868;NR_038453 EAW54422 Hs.646725 ncrna ENSG00000237512 HGNC:45096 VALIDATED 1344019 UNC5A unc-5 homolog A (C. elegans) UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004] 5 5 5 q35.2 172194323 172263415 - 176237560 176307899 + 176810559 176880898 + 6480464;8554872 11853319;12477932;12598531;12598906;12655055;12810718;14702039;15489334;15573119;15729359;17174565;19913121;20372800;20628086;24737586;8889548 90249 H0Y8R2;H0Y9G2;Q6ZN44 AB075856;ABBA01033478;ABBA01033479;ABBA01033480;ABBA01033481;ABBA01033482;AC027318;AC091897;AC091902;AK131380;AMYH02012818;AMYH02012819;BC009333;BC033727;BC122556;BC157824;BI818609;BM712478;CH471195;NM_133369;XM_006714927;XM_006714928 AAH09333;AAH33727;AAI22557;AAI57825;AAI67811;BAB85562;BAD18531;EAW85050;EAW85051;EAW85052;NP_588610;Q6ZN44;XP_006714990;XP_006714991 Hs.33191 1757419;1761519;1761533;1791081;1848726;2118070;2128095 RH78677;SHGC-144806;SHGC-145520;SHGC-145534;STS-R17757;STS_04;WI-21074 FLJ16449;KIAA1976;UNC5H1 OTTHUMP00000223365;netrin receptor UNC5A;netrin receptor Unc5h1;protein unc-5 homolog A;unc-5 homolog 1;unc5 (C.elegans homolog) a APPROVED protein-coding ENSG00000113763 HGNC:12567 607869 VALIDATED 736493 UNC5B unc-5 homolog B (C. elegans) This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] 10 10 10 q22.1 66254788 66343547 + 72972292 73062635 + 71212535 71302878 + 1580863;6480464;8554872 12107411;12359238;12477932;12598906;12655055;12975309;14702039;15342556;15729359;16344560;16385451;18469807;18719102;18839057;19273616;19570425;19822088;19826074;20092749;20379614;21172653;21238923;21906983;21922135;22252496;22951725;23055195;23312517;23443559;23526078;23599441;23666553;24122613;24584118 219699 Q8IZJ1 AB096256;ABBA01019638;AK022859;AK094595;AK128132;AL049370;AL359384;AL359832;AMYH02023296;AMYH02023297;AY126437;AY358351;BP344031;BQ638420;CH471083;DA810535;DR003631;NM_001244889;NM_170744 AAI66694;AAM95701;AAQ88717;BAB14276;BAC04382;BAC57998;BAG54634;EAW54420;EAW54421;NP_001231818;NP_734465;Q8IZJ1 Hs.522997 1336756;1676910;1722303;1731012;2143806;2153761;5491555 A007B32;D10S1759;D10S363;D5S1944;G60066;MARC_17640-17641:1019145113:1;SHGC-56950 UNC5H2;p53RDL1 OTTHUMP00000019771;OTTHUMP00000019772;netrin receptor UNC5B;p53-regulated receptor for death and life protein 1;transmembrane receptor Unc5H2;unc-5 homolog 2;unc-5 homolog B APPROVED protein-coding ENSG00000107731 HGNC:12568 08487 607870 VALIDATED 1342658 UNC5CL unc-5 homolog C (C. elegans)-like ENCODES a protein that exhibits peptidase activity; INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; positive regulation of JNK cascade; proteolysis; FOUND IN membrane; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 6 6 6 p21.1 42547321 42559619 - 40994640 41006938 - 41026901 41039199 - 6480464 12477932;14769797;21642993;22158417;23824909 222643 H8YHX0;Q8IV45 ABBA01050761;AI791395;AL031778;AMYH02013601;AY510109;BC035284;BM312066;CH471081;JF681947;NM_173561 AAH35284;AAS80165;AEB96256;EAX04007;NP_775832;Q8IV45 Hs.158357 1739547 D6S1523 MGC34763;MUXA;ZUD OTTHUMP00000016362;UNC5C-like protein;ZU5 and death domain containing;ZU5 and death domain-containing protein;protein unc-5 homolog C-like protein-coding ENSG00000124602 HGNC:21203 09844 VALIDATED 1347353 UNC5C unc-5 homolog C (C. elegans) This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008] 4 4 4 q21-q23 93380311 93766978 - 96083655 96470361 - 95162504 95549210 - 634450;1580863;6480464;8554872 9126742 11103947;11213262;12477932;12655055;12810718;14702039;15489334;15574733;15729359;16371650;17967459;18054557;18628988;19242752;19331160;19475631;19822088;19850283;20032384;20201926;20379614;20395239;20932310;21600761;21893118;22685302;23178624;23251661;23402259;24415873;9782087 8633 A8K385;D6RE16;E0CX15;O95185 ABBA01063631;ABBA01063632;ABBA01063633;AC097656;AC098584;AC105395;AC106881;AF055634;AK022487;AK290500;AK308421;AMYH02009762;AMYH02009763;BC034747;BC041156;BX538341;CH471057;NM_003728;XM_005263321 AAC67491;AAH41156;AAY41022;BAF83189;EAX06061;EAX06062;NP_003719;O95185;XP_005263378 Hs.388565 1659533;1661410;1661412;1686967;1691264;1699258;1704096;1708404;1717305;1718431;1719861;1727863;1770305;1854841;2113494;2141709;2143998;2149753;2161737;2176647;2218628 BZ897709;D4S470;G33627;G35942;G63348;RH103210;RH122143;RH122417;RH123625;RH93750;SHGC-19072;SHGC-24799;SHGC-50331;SHGC-51503;SHGC-67342;SHGC-83368;SHGC-83484;SHGC-8648;STS-N34287;STS-T51283;UNC5C__5006 UNC5H3 OTTHUMP00000161619;OTTHUMP00000219358;homolog of C. elegans transmembrane receptor Unc5;netrin receptor UNC5C;protein unc-5 homolog C;unc-5 homolog 3;unc5 (C.elegans homolog) c APPROVED protein-coding ENSG00000182168 HGNC:12569 04678 603610 REVIEWED 1343732 UNC93A unc-93 homolog A (C. elegans) ASSOCIATED WITH Melanoma (inferred); FOUND IN plasma membrane; INTERACTS WITH aflatoxin B1; N-nitrosodiethylamine; clofibrate (ortholog) 6 6 6 q27 168447509 168472228 + 167704803 167729502 + 167291315 167316014 + 1580863;6480464;8554872 12381271;12477932;14574404;14702039 54346 D6RFH7;Q86WB7 ABBA01033433;AJ422141;AJ508812;AK091987;AL021331;AMYH02014978;BC098248;BC099718;BC105635;CH471051;NM_001143947;NM_018974 AAH98248;AAH99718;AAI05636;BAG52457;CAD19521;CAD48541;EAW47499;EAW47500;EAW47501;NP_001137419;NP_061847;Q86WB7 Hs.567508 1774107;1791978;1791980;1791982;1791984;1791986;1791988;1791990;1791992;2165375;2168452;2219746 A007I36;D6S1440;PMC134458P1;PMC134458P2;PMC134458P3;PMC134458P4;PMC134458P5;PMC134458P6;PMC134458P7;PMC134458P8;RH46854;UNC93A__5008 MGC119395;MGC119397;Unc-93A;dJ366N23.1;dJ366N23.2 OTTHUMP00000017623;OTTHUMP00000220557;dJ366N23.1 (putative C. elegans UNC-93 (protein 1, C46F11.1) LIKE);dJ366N23.2 (putative C. elegans UNC-93 (protein 1, C46F11.1) C-terminal LIKE);hmUNC-93A;protein unc-93 homolog A;unc93 homolog A protein-coding ENSG00000112494 HGNC:12570 12148 607995 VALIDATED 2293163 UNC93B2 unc-93 homolog B2 pseudogene (C. elegans) 7 7 7 p22.1 6868187 6869339 - 6894674 6899461 - 6855043 6859830 - 11867227;12853948 641922 ABBA01056512;AC079804;AMYH02015186;NG_013106 UNC93B2P pseudo HGNC:13482 INFERRED 2290519 UNC93B3 unc-93 homolog B3 pseudogene (C. elegans) 3 3 3 p12.3 76411926 76416736 - 75668191 75673001 - 75619040 75623850 - 11867227;23314748 285296 ABBA01030989;AC108724;AC245159;NG_009695 UNC93B3P pseudo HGNC:13483 INFERRED 1319479 UNC5D unc-5 homolog D (C. elegans) INVOLVED IN apoptotic process (inferred); axon guidance (inferred); pyramidal neuron differentiation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell surface (inferred); integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; trichostatin A; valproic acid 8 8 8 p12 34042678 34602076 + 35092975 35654068 + 35235457 35796550 + 6480464;8554872 12975309;14702039;15142956;15302935;16368877;18402767;20379614;23589179;23778138;24519068 137970 C9J1I0;C9J2B6;E9PDS8;H7BXJ2;Q6UXZ4 AB055056;AB073394;ABBA01023584;ABBA01023585;ABBA01023586;ABBA01023587;ABBA01023588;AC012215;AC013302;AC090740;AC099685;AC104049;AC105230;AK092313;AK122610;AK122615;AMYH02017785;AMYH02017786;AMYH02017787;AMYH02017788;AMYH02017789;AMYH02017790;AMYH02017791;AMYH02017792;AMYH02017793;AMYH02017794;AY358147;BY798317;CH471080;NM_080872;XM_006716288 AAI56114;AAI56909;AAQ88514;BAB83663;BAG53621;EAW63381;EAW63382;EAW63383;NP_543148;Q6UXZ4;XP_006716351 Hs.238889 1336784;1338554;1338780;1340253;1340289;1341882;1648028;1660381;1664897;1666317;1706402;1708956;1710286;1712032;1717393;1728975;1745983;1754509;1855674;2136411;2150234;2218630;7185570 AFMB283XF1;D14S1004;D5Bwg0676e;D8S1486;D8S1719;D8S1750;D8S1766;D8S1777;D8S2007;D8S2093;D8S87;G32124;RH118713;RH122187;RH125247;SHGC-132781;SHGC-32224;SHGC-4695;SHGC-79535;SHGC-80775;SHGC-85240;UNC5D__5007 FLJ16019;KIAA1777;PRO34692;Unc5h4 OTTHUMP00000211533;OTTHUMP00000211534;OTTHUMP00000211542;OTTHUMP00000211543;OTTHUMP00000211544;netrin receptor UNC5D;netrin receptor Unc5h4;protein unc-5 homolog D;unc-5 homolog 4 protein-coding ENSG00000156687 HGNC:18634 11661 VALIDATED 1350674 UNC80 unc-80 homolog (C. elegans) INVOLVED IN ion transmembrane transport (inferred); transmembrane transport (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH valproic acid; pirinixic acid (ortholog) 2 2 2 q35 204404518 204632058 + 210636717 210864024 + 209771993 209999300 + 6480464;8554872 10737800;11347906;12168954;12477932;14702039;16344560;17825559;18336069;19092807;19535918;21145461;22939629;9847074 285175 H3BLU5;Q8N2C7 AB058746;ABBA01062730;ABBA01062731;ABBA01062732;AC006385;AC006464;AC007038;AK027583;AK090815;AK299022;AK302830;AMYH02005675;AMYH02005676;AMYH02005677;BC136690;BC136693;CH471063;CR748860;CV392610;DA147023;DB301313;DN990286;DW009748;DW010027;DY654424;NM_032504;NM_182587;XM_005246476;XM_006712445;XM_006712446;XM_006712447;XM_006712448;XM_006712449;XM_006712450;XM_006712451;XM_006712452 AAI36691;AAI36694;BAB47472;BAB55211;BAC03521;BAG61101;BAG64025;EAW70465;EAW70466;EAW70467;EAW70468;EAW70469;EAW70470;NP_115893;NP_872393;Q8N2C7;XP_005246533;XP_006712508;XP_006712509;XP_006712510;XP_006712511;XP_006712512;XP_006712513;XP_006712514;XP_006712515 Hs.396201 1336917;1652063;1666842;1673540;1734982;2113922 AB049879;B299WB5;D2S1724E;D2S322;SHGC-61988;WI-15052 C2orf21;FLJ14677;FLJ33496;FLJ53903;KIAA1843;UNC-80 OTTHUMP00000206605;WUGSC:H_NH0436C12.1;protein unc-80 homolog protein-coding ENSG00000144406 HGNC:26582 12809 612636 VALIDATED 1323726 UNC93B1 unc-93 homolog B1 (C. elegans) This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014] 11 11 11 q13 65092238 65105264 - 67758575 67771593 - 67991104 68004123 - 1580863;5685014;6480464;7240710;8699517;8554872 21235323 11867227;12477932;15489334;16111919;16554811;16973841;18082565;18241724;19006693;19120473;19120481;21173679;21890473;21903422;21906983;21963094;21987572;22164301;22611194;23002119;23166319;24439965;8619474;8889548;9110174;9847074 81622 E9PI69;E9PNE5;E9PR93;Q05BS6;Q58F16;Q9H1C4 ABBA01024020;AC004923;AJ271326;AJ422142;AMYH02025000;AY007125;BC025669;BC033623;BC092472;BC101568;BC105104;BM969922;BM980538;BU622714;CH471076;HY081711;KF459673;NG_007581;NM_030930 AAD15416;AAH25669;AAH33623;AAH92472;AAI01569;AAI05105;CAC19791;CAD19522;EAW74676;EAW74677;NP_112192;Q9H1C4 Hs.502989 5113423 RH80355 IIAE1;MGC126617;UNC93;UNC93B;Unc-93B1 hUNC93B1;protein unc-93 homolog B1;unc-93 related protein;unc93 homolog B;unc93 homolog B1 APPROVED protein-coding ENSG00000110057 HGNC:13481 12191 608204;610551 REVIEWED 2292102 UNC93B4 unc-93 homolog B4 pseudogene (C. elegans) 4 4 4 p16.3 4044955 4047168 - 4147309 4149522 - 4145582 4147795 - 11867227;9847074 643384 ABBA01008242;AC011744;AMYH02008640;NG_009674 pseudo HGNC:13484 INFERRED 4143688 UNC93B5 unc-93 homolog B5 pseudogene (C. elegans) 11 11 11 q13.2 64811447 64816731 - 67478726 67483477 - 67711255 67716006 - 729196 ABBA01024026;AMYH02024998;AP003385;NG_028989 unc-93 homolog B5 (C. elegans);unc-93 homolog B5 pseudogene APPROVED pseudo HGNC:34051 INFERRED 2292185 UNC93B6 unc-93 homolog B6 (C. elegans) 11 11 11 q13.4 68613514 68618394 + 71314210 71319090 + 71603164 71608044 + 255620 ABBA01017551;AMYH02025068;AP000867;NG_009705 pseudo HGNC:34053 INFERRED 6483992 UNC93B7 unc-93 homolog B7 pseudogene (C. elegans) 4 4 9495379 9500149 + 9493735 9498505 + 9847074 100887746 ABBA01032500;AC097493;AC116655;AMYH02008739;NG_032765 pseudo HGNC:44036 INFERRED 6483993 UNC93B8 unc-93 homolog B8 pseudogene (C. elegans) 4 4 8961354 8965527 + 8959628 8963801 + 9847074 100887748 ABBA01016353;AC073648;AMYH02008706;NG_032767 pseudo HGNC:44037 INFERRED 1349423 UNGP1 uracil-DNA glycosylase pseudogene 1 16 16 16 q12.1 35827650 35828681 + 51312585 51313616 + 51278674 51279705 + 8694824 57004 ABBA01066462;AC137527;AMYH02032023;NG_001287;X92985 1692910 AL034167 pseudo HGNC:18579 INFERRED 1626690 UNCX UNC homeobox ENCODES a protein that exhibits sequence-specific DNA binding (inferred); INVOLVED IN cartilage condensation (inferred); common myeloid progenitor cell proliferation (inferred); dorsal spinal cord development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,6-dinitrotoluene (ortholog); ammonium chloride (ortholog) 7 7 7 p22.3 1234813 1238773 + 1272654 1276613 + 1233018 1236977 + 6480464;8554872 11181995;12690205;12853948;21897333;22797727;24816145 340260 A6NJT0 ABBA01039326;AC073094;AMYH02015046;AMYH02015047;CH236953;CH471144;NM_001080461 A6NJT0;EAL23940;EAW87199;NP_001073930 Hs.232272 UNCX4.1 OTTHUMP00000201010;Unc4.1 homeobox;homeobox protein Uncx4.1;homeobox protein unc-4 homolog protein-coding HGNC:33194 PROVISIONAL 1349949 UNGP2 uracil-DNA glycosylase pseudogene 2 14 14 14 q12 7259054 7259680 - 27394640 27395266 - 26925434 26926060 - 8694824 57005 ABBA01061365;AL110292;AMYH02028903;NG_001288;X92986 1651044 RH15692 pseudo HGNC:18580 INFERRED 1322833 UNC79 unc-79 homolog (C. elegans) INVOLVED IN behavioral response to ethanol (inferred); ion transmembrane transport (inferred); multicellular organism growth (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH cisplatin (ortholog); clofibrate (ortholog); titanium dioxide (ortholog) 14 14 14 q32.12 73853579 74227697 + 93799565 94174222 + 93333219 93707876 + 6480464;8554872 10718198;14702039;17353931;20158304;20379614;20714347;21040849;23314748 57578 G3V2U4;Q9P2D8 AB037830;ABBA01030429;ABBA01030430;ABBA01030431;ABBA01030432;AK090721;AK125327;AK126626;AL122023;AL136338;AL157858;AMYH02029772;AMYH02029773;AMYH02029774;BX649040;CH471061;KF455993;NM_020818;XM_006720220;XM_006725167 BAA92647;BAC86131;EAW81531;NP_065869;Q9P2D8;XP_006720283;XP_006725230 Hs.126561 1667223;1669752;1669754;1669814;1679818;1686552;1699086;1710716;1736436;1758483;1776104;1846799;1850177;1855336;2117800;2121251;2126753;2131336;2139914;2145258;2146761;2149753;2157646;2158824;2168919;2172077 043XE3;A005E15;A006H05;B362XB1;D14S1147;D14S1156;D14S700E;D14S772;D14S969;G20797;G35407;G35446;G35719;G35792;G35808;G35942;G36027;G36147;G36176;RH103119;RH48317;RH81028;RH93903;SHGC-148441;SHGC-83687;WI-14655 FLJ43337;KIAA1409 OTTHUMP00000028391;OTTHUMP00000070354;OTTHUMP00000245722;OTTHUMP00000245723;protein unc-79 homolog APPROVED protein-coding ENSG00000133958 HGNC:19966 11143 VALIDATED 1351551 UNGP3 uracil-DNA glycosylase pseudogene 3 14 14 14 q31.1 61764600 61766493 - 81724691 81726583 - 81258347 81260239 - 319122 ABBA01030610;AC010582;AL136040;AMYH02029625;NG_002503 1698598;1731639;2143063 D14S188;G35576;RH102852 pseudo HGNC:20036 INFERRED 1319446 UNK unkempt family zinc finger ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; 5-aza-2'-deoxycytidine 17 17 17 q25.1 70370731 70411935 + 73780920 73821886 + 75784839 75825805 + 737633;1580863;6480464;8554872 12477932 11214970;15302935;15489334;16094384;16713569;22939629;24255178 85451 K7EIZ1;K7ELF5;K7EMB1;K7EQ93;K7EQJ1;Q9C0B0 AB051540;ABBA01028768;ABBA01028769;ABBA01028770;ABBA01028771;AC087289;AI290733;AK307289;AMYH02034001;BC033751;BC038802;BC039606;BC046175;BC053362;BC064927;BC080657;CH471099;NM_001080419;NR_038131;XM_006722144;XM_006722145;XM_006722146;XM_006722147;XM_006722148 AAH53362;BAB21844;EAW89320;EAW89321;NP_001073888;Q9C0B0;XP_006722207;XP_006722208;XP_006722209;XP_006722210;XP_006722211 Hs.584768;Hs.732048 1340537;1658808;1662482;1678179;1757167;1773248 D17S1839;RH18221;RH47803;RH94321;SHGC-144594;SHGC-33699 KIAA1753;ZC3H5;ZC3HDC5 RING finger protein unkempt homolog;unkempt homolog;zinc finger CCCH domain-containing protein 5;zinc finger CCCH type domain containing 5;zinc finger CCCH-type containing 5;zinc finger CCCH-type domain containing 5 APPROVED protein-coding ENSG00000132478 HGNC:29369 VALIDATED 1343488 UOX urate oxidase, pseudogene Urate oxidase is an enzyme that catalyzes the oxidation of uric acid to allantoin. This gene has been inactivated by mutation and is nonfunctional in humans and some other primates. [provided by RefSeq, Jul 2008] 1 1 1 p22 83074869 83107791 - 84830641 84863576 - 84364958 84397893 - 6480464 11700027;11961098;1395718;1556746;18085818;20210993;22095909;2403354 391051 AB074093;AB074326;ABBA01045656;ABBA01045657;AI208826;AL359273;AMYH02001376;KF459724;KF459728;KF495683;KF495755;NR_003927;S94095 Hs.647646 1338001;2190627 D1S2889;UOX UOXP URICASE APPROVED pseudo HGNC:12575 191540 VALIDATED 734439 UPB1 ureidopropionase, beta This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 8690987 8722274 + 24863344 24922553 + 24467238 24526585 + 1624989;1300048;1580863;6480464;6907045;7240710;8554872;8699517 7626590 10542323;11508704;12477932;14702039;15385443;15461802;17065070;18075467;18216719;19056867;19913121;20628086;22525402;23238479;24328561;3931905 51733 B3KNC1;F8WC94;Q6AHZ8;Q9UBR1 AB013885;ABBA01055138;AF163312;AF169559;AK024277;AK314727;AMYH02038143;AMYH02038144;AP000355;BC033388;BC131703;BC139843;BX537493;CH471095;CR456375;CR627429;KF457378;NG_012858;NM_016327;XM_005261633;XR_244378 AAF06735;AAF06739;AAI31704;AAI39841;AAI39844;BAA88634;BAG37269;BAG51283;CAG30261;CAH10516;CAI46015;CAK54511;CAK54810;EAW59662;EAW59663;EAW59664;NP_057411;Q9UBR1;XP_005261690 Hs.731656 1335844;1659212;1671364;1687447;1777331;5022450;5037552;5109281;5109283 D10S275;D1S1425;D1S1431;D22S156;D8S2279;HSC1IC042;SGC33315;STS-T67940;WIAF-2537 BUP-1;BUP1 OTTHUMP00000198407;beta-alanine synthase;beta-ureidopropionase;n-carbamoyl-beta-alanine amidohydrolase APPROVED protein-coding ENSG00000100024 HGNC:16297 09451 606673;613161 REVIEWED 3542881 UPF3AP2 UPF3A pseudogene 2 17 17 p11.2 20278129 20280151 - 20374816 20376838 - 11997339 147150 AC008088;AMYH02033185;NG_001546 2183911 SHGC-64094 APPROVED pseudo HGNC:30567 INFERRED 1313946 UPF1 UPF1 regulator of nonsense transcripts homolog (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 19 19 19 p13.2-p13.11 18847541 18883840 + 18942744 18979039 + 18831935 18868230 + 1580863;6480464;6907045 10454541;10999600;11073994;11113196;11163187;11331269;11544179;11546874;12000843;12228722;12417715;12477932;12554878;12723973;12881429;14527413;14636577;15057824;15106121;15175154;15231747;15489334;15680326;15721257;16086026;16186820;16364915;16452507;16488880;16601204;16861888;16931876;17159905;17220478;17456004;17468741;17803942;18066079;18256688;18362360;18369187;18369367;18423202;18427545;18447585;18774934;18781797;19150429;19417104;19542561;19556969;19704008;19738201;20020773;20371770;20691628;20946641;21029861;21081666;21139048;21145460;21145461;21182205;21319273;21419344;21541368;21749700;21829167;21890473;21900206;21906983;21963094;22053931;22087843;22156744;22505724;22522823;22553336;22586326;22622014;22623428;22797925;22817733;22889941;22939629;22944692;23000965;23125841;23275559;23305486;23404710;23444366;23642263;23785196;23825951;23832275;23881279;24173962;24250222;24457600;24726324;24778252;24816145;24859531;25027693;25036637;6200476;8855285;9039502;9064659;9620853 5976 Q6ZUC8;Q92900 ABBA01051294;AC003972;AC004517;AF074016;AK125797;AK128727;AMYH02035743;BC034291;BC039817;BE243084;BM969672;BQ950083;BX331580;BX364728;CB960545;CH471106;D86988;KF456529;NM_001297549;NM_002911;U59323;U65533;XM_005260015 AAB94785;AAC09016;AAC26788;AAC50771;AAC51140;AAH39817;BAA19664;BAC86297;BAG54717;EAW84738;EAW84739;EAW84740;EAW84741;EAW84742;NP_001284478;NP_002902;Q92900;XP_005260072 Hs.515266 1679744;1739657;2140856;2176109 A006H36;D19S842E;RH25427;RH36847 FLJ43809;FLJ46894;HUPF1;KIAA0221;NORF1;RENT1;pNORF1;smg-2 ATP-dependent helicase RENT1;UP Frameshift 1;delta helicase;nonsense mRNA reducing factor 1;regulator of nonsense transcripts 1;smg-2 homolog, nonsense mediated mRNA decay factor;up-frameshift mutation 1 homolog;up-frameshift suppressor 1 homolog;yeast Upf1p homolog APPROVED protein-coding ENSG00000005007 HGNC:9962 03254 601430 REVIEWED 1604323 UNKL unkempt family zinc finger-like This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013] 16 16 16 p13.3 1627320 1677303 - 1413206 1464750 - 1363205 1414749 - 6480464;8554872 11157797;11181995;12477932;1339381;14702039;15489334;15616553;15761153;16341674;16344560;20148946;23455924;24250222;8889548 64718 D6RA68;E2QRG9;E9PDK2;Q9H9P5 ABBA01030309;ABBA01030310;AE006467;AK022685;AK024842;AK027013;AK124977;AL031709;AL031721;AL032819;AM944365;AMYH02031227;AMYH02031228;AMYH02031229;AW971542;BC000150;BC011924;BI751989;BM763288;BQ776895;BU431187;BU633778;CB988960;CF136587;CH471112;DA558634;DA739764;HY086058;NG_033129;NM_001037125;NM_001193388;NM_001193389;NM_001276414;XM_005255505;XM_005255506;XM_006720923;XM_006720924;XM_006720925;XR_429645 AAH00150;AAH11924;AAK61278;AAK61279;BAB14178;BAB15626;CAQ16184;EAW85659;EAW85660;EAW85661;EAW85662;EAW85663;EAW85664;NP_001032202;NP_001180317;NP_001180318;NP_001263343;Q9H9P5;XP_005255562;XP_005255563;XP_006720986;XP_006720987;XP_006720988 Hs.643536;Hs.745452 1670734;1670736;1719605;2106737;5022578;5109281 D1S1423;D1S1425;RH11799;RH123707;SHGC-61167;UNKL__5009 C16orf28;FLJ12623;FLJ23360;KIAA0734;MGC5179;ZC3H5L;ZC3HDC5L OTTHUMP00000158652;OTTHUMP00000158653;OTTHUMP00000158698;OTTHUMP00000219065;OTTHUMP00000219075;RING finger protein unkempt-like;putative E3 ubiquitin-protein ligase UNKL;unkempt homolog-like;unkempt-like;zinc finger CCCH domain-containing protein 5-like APPROVED protein-coding ENSG00000059145 HGNC:14184 15612 REVIEWED 3497314 UPF3AP3 UPF3A pseudogene 3 9 9 9 73273988 73274817 - 102760586 102761415 - 99998304 99999133 - 100422343 ABBA01042894;AL360084;AMYH02021333;NG_021629 APPROVED pseudo HGNC:38395 INFERRED 3519867 UPF3AP1 UPF3A pseudogene 1 17 17 p11.2 16648054 16650076 - 16744740 16746762 - 11997339 147226 AC022596;AC098850;AMYH02033081;NG_001548 2183911 SHGC-64094 APPROVED pseudo HGNC:30568 INFERRED 1318748 UPF3A UPF3 regulator of nonsense transcripts homolog A (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q34 95719450 95743911 + 115047059 115071292 + 114281584 114305817 + 1580863;6480464;6907045;8554872 11113196;11163187;11544179;11546873;11546874;12417715;12477932;12554878;12723973;14527413;14636577;14702039;15004547;15057823;15231747;15489334;16169070;16452507;16601204;17704778;17803295;17803942;18029348;19503078;21145460;21832049;23275563 65110 B3KUE7;B4DXJ4;Q9H1J1 ABBA01006264;ABBA01006265;AF318575;AK001069;AK092586;AK097027;AK294545;AK302003;AL160396;AMYH02028757;AY013250;BC008694;BC023569;BC047735;BQ008047;CH471085;NG_029528;NM_023011;NM_080687;XM_005266200;XM_005266201;XM_005266202;XM_006719991;XR_429283 AAG48510;AAG60690;AAH08694;AAH23569;BAG53409;BAG57751;BAG63406;EAX09247;EAX09248;EAX09249;EAX09250;EAX09251;EAX09252;NP_075387;NP_542418;Q9H1J1;XP_005266257;XP_005266258;XP_005266259;XP_006720054 Hs.533855 1658011;1760283;2183911;5016781;5020490;5113371;5117676 G27732;GDB:595856;RH17923;SHGC-132824;SHGC-52734;SHGC-64094;SHGC-67307 FLJ35267;FLJ57970;HUPF3A;RENT3A;UPF3;hUpf3 OTTHUMP00000018789;OTTHUMP00000178892;nonsense mRNA reducing factor 3A;regulator of nonsense transcripts 3A;up-frameshift suppressor 3 homolog A APPROVED protein-coding ENSG00000169062 HGNC:20332 09274 605530 REVIEWED 1319373 UPF2 UPF2 regulator of nonsense transcripts homolog (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008] 10 10 10 p14-p13 11890782 12013775 - 11962021 12085169 - 11920022 12043170 - 6480464;6907045;8554872 10718198;11073994;11113196;11163187;11544179;11546874;12093754;12417715;12477932;12554878;12718880;12723973;12881429;14527413;14574404;14636577;14702039;15004547;15231747;15361857;15489334;15680326;16086026;16186820;16209946;16344560;16385451;16449641;16452507;16488880;16601204;17456004;17468741;17803942;18066079;18256688;18369367;18987618;19322201;19417104;19556969;20085233;20195357;20371770;21139048;21145460;21419344;22219177;22939629;24173962;24250222;24271394;24639526;24778252;24816145;9933612 26019 Q9HAU5 AB037829;ABBA01034676;ABBA01034677;ABBA01034678;ABBA01034679;AC073160;AF301013;AF318574;AK000764;AK074375;AK096191;AK295209;AK310925;AL080198;AL138898;AL645617;AMYH02022136;AMYH02022137;AMYH02022138;AW444636;AY013249;BC090919;BC114964;BC115737;CH471072;DA188353;DB065422;NG_033936;NM_015542;NM_080599 AAG33225;AAG48509;AAG60689;AAH90919;AAI14965;AAI15738;BAA91369;BAA92646;BAB85064;BAC04721;BAG58205;CAB45771;EAW86328;EAW86329;EAW86330;EAW86331;EAW86332;EAW86333;NP_056357;NP_542166;Q9HAU5 Hs.370689;Hs.610110;Hs.732383 1765799;1781918;1788630;1794966;1851733;2121217;2148508 PMC86549P1;RH18142;SHGC-111377;SHGC-149225;SHGC-37657;STS-N72687;WI-20284 DKFZp434D222;HUPF2;KIAA1408;MGC138834;MGC138835;RENT2;smg-3 OTTHUMP00000019091;OTTHUMP00000019092;nonsense mRNA reducing factor 2;regulator of nonsense transcripts 2;smg-3 homolog, nonsense mediated mRNA decay factor;up-frameshift suppressor 2 homolog;yeast Upf2p homolog APPROVED protein-coding ENSG00000151461 HGNC:17854 10405 605529 REVIEWED 6480137 UPK1A-AS1 UPK1A antisense RNA 1 19 19 q13.12 36158850 36164193 - 35667948 35673291 - 12477932;17207965 100862728 ABBA01018753;ABBA01018754;AC002115;AMYH02035986;AMYH02035987;BC007817;BF683645;BX283291;EL733629;NR_046420 Hs.569952 APPROVED ncrna ENSG00000226510 HGNC:40603 VALIDATED 1320413 UPK1A uroplakin 1A The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 19 19 19 q13.13 32871189 32882842 + 36157418 36169387 + 35666516 35678485 + 1580863;6480464 10404304;10514386;11739647;12036448;12475947;12477932;15057824;15088894;15200408;15489334;15913809;18051367;19056867;19577575;20978196;8138569;8530366;9846985 11045 O00322 AA548647;ABBA01018753;ABBA01018754;ABBA01018755;AC002115;AC002314;AF085807;AMYH02035986;AMYH02035987;BC107097;BC107098;HY263470;NM_001281443;NM_007000 AAB57631;AAB62736;AAC34887;AAI07098;AAI07099;NP_001268372;NP_008931;O00322 Hs.159309 MGC129751;MGC129752;MGC14388;TSPAN21;UP1A;UPIA;UPKA OTTHUMP00000045789;tetraspanin-21;tspan-21;uroplakin Ia;uroplakin-1a APPROVED protein-coding ENSG00000105668 HGNC:12577 15624 611557 REVIEWED 1317213 UPK1B uroplakin 1B The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can form a complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q13.32 117300917 117332493 + 118892425 118924000 + 119173578 119205153 + 1580863;6480464;8554872 10514386;11739647;12031497;12446744;12475947;12477932;15140401;15489334;16354592;17207965;18355812;19056867;24559587;8125298;8530366;9073521;9818021;9846985;9935153 7348 C9J027;C9J6N2;C9J9M7;E7ETN9;O75841 AB002155;AB015234;ABBA01061587;AC083800;AF042331;AF067147;AF082888;AF324865;AK225868;AK303924;AK313787;AL709739;AMYH02007495;AMYH02007496;AMYH02007497;BC012851;BC063568;CH471052;CR457084;NM_006952 AAC17446;AAC77794;AAD09401;AAH63568;ADQ32551;BAA33724;BAA88878;BAG36524;BAG64852;CAG33365;EAW79577;NP_008883;O75841 Hs.271580 1713579;2218634;5024039 D16S325;RH120285;UPK1B__5030 TSPAN20;UP1b;UPIB;UPK1;tspan-20 OTTHUMP00000215018;OTTHUMP00000215019;OTTHUMP00000215020;OTTHUMP00000215021;OTTHUMP00000215022;tetraspan;tetraspanin-20;uroplakin Ib;uroplakin-1b APPROVED protein-coding ENSG00000114638 HGNC:12578 03853 602380 REVIEWED 1353269 UPK2 uroplakin 2 This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymmetric unit membrane is believed to strengthen the urothelium by preventing cell rupture during bladder distention. The encoded protein is expressed in the peripheral blood of bladder cancer patients with transitional cell carcinomas.[provided by RefSeq, Sep 2009] 11 11 11 q23 1677 3938 + 118827008 118829269 + 118956298 118958559 + 1580863;6480464;8554872 10404304;10458411;10514386;12097284;12475947;12477932;12792753;15489334;16116969;17012268;18440837;19056867;21906983;24978921;7507484;8175808;8530366;9515818;9846985 7379 O00526 AB009454;AB078607;ABBA01039685;AF000562;AMYH02025659;AP004609;AY455312;BC113900;CD556028;EF445028;NM_006760;Y13645 AAB58416;AAI13901;AAR19396;ACA06070;BAA23884;BAB84089;CAA73996;NP_006751;O00526 Hs.379613 1782300;2174127 G17562;SHGC-141802 MGC138598;UP2;UPII OTTHUMP00000232689;uroplakin II;uroplakin-2 APPROVED protein-coding ENSG00000110375 HGNC:12579 10295 611558 REVIEWED 1316252 UNG uracil-DNA glycosylase This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010] 12 12 12 q23-q24.1 109159338 109172962 + 109535399 109548798 + 109097594 109110993 + 1599705;1580863;6480464;6907045;7240710;8554872;8699517 12958596 10393198;10583946;10629618;10805771;10888643;10982866;11081631;11937636;12136137;12161446;12171929;12369930;12458223;12477932;12525642;12667798;12670953;12810074;14580190;15084312;15096517;15107486;15142377;15302935;15327777;15339922;15489334;15875659;15967827;15969084;15970468;16005850;16075307;16103149;16120388;16216562;16344560;16697536;16928741;16951200;17029639;17081983;17090531;17101234;17272283;17331040;17360488;17537817;17586317;17704764;18004790;18079698;18196298;18270339;18514189;18760480;18973764;19020832;19023113;19064571;19237606;1923798;19275580;19275585;19403629;19458171;19625402;19671688;19696076;19838296;19859091;20012529;2001396;20176960;20226869;20371602;20466601;20496165;20574454;20800603;20843780;20870715;20877624;21139048;21318276;21399697;21454529;21473605;21566118;21755446;21832049;21874023;21890473;21906983;21918813;21934670;21959147;21963094;21988832;21994586;22053931;22077282;22138674;22153281;22171270;22190034;22274659;22292079;22483865;22505724;22521144;22529268;22939629;23028129;23202519;23253900;23506270;23506309;23696735;23705837;23714858;23849790;23873851;24178031;24250222;24332808;2555154;7556436;7671300;7697717;7926048;8332455;8551605;8670846;8884263;8900285;9016624;9045683;9151883;9371639;9490791;9525900;9724657;9753728;9882380 7374 E5KTA5;E5KTA6;F5GYA2;P13051;Q68DM5 A64377;ABBA01005061;ABBA01005062;AC007637;AF526277;AK291341;AK299416;AK313552;AMYH02027165;BC015205;BC050634;BG326541;BM928006;BQ950839;BU622689;CH471054;CR541673;CR749342;DB045515;HH794618;HQ206226;HQ206227;HQ206228;HQ206229;HQ206230;HQ206231;HQ206232;HQ206233;HQ206234;HQ206235;HQ206236;HQ206237;HQ206238;HQ206239;HQ206240;HQ206241;HQ206242;HQ206243;HQ206244;HQ206245;HQ206246;HQ206247;HQ206248;HQ206249;HQ206250;HQ206251;HQ206252;HQ206253;HQ206254;HQ206255;HQ206256;HQ206257;HQ206258;HQ206259;HQ206260;HQ206261;HQ206262;HQ206263;HQ206264;HQ206265;NG_007284;NM_003362;NM_080911;X15653;X79093;X89398;Y09008 AAH15205;AAH50634;AAM77695;ACT64522;ACT64523;ADP92134;ADP92135;ADP92136;ADP92137;ADP92138;ADP92139;ADP92140;ADP92141;ADP92142;ADP92143;ADP92144;ADP92145;ADP92146;ADP92147;ADP92148;ADP92149;ADP92150;ADP92151;ADP92152;ADP92153;ADP92154;ADP92155;ADP92156;ADP92157;ADP92158;ADP92159;ADP92160;ADP92161;ADP92162;ADP92163;ADP92164;ADP92165;ADP92166;ADP92167;ADP92168;ADP92169;ADP92170;ADP92171;ADP92172;ADP92173;ADP92174;ADP92175;ADP92176;ADP92177;ADP92178;ADP92179;ADP92180;ADP92181;ADP92182;ADP92183;ADP92184;ADP92185;ADP92186;ADP92187;ADP92188;ADP92189;ADP92190;ADP92191;ADP92192;ADP92193;ADP92194;ADP92195;ADP92196;ADP92197;ADP92198;ADP92199;ADP92200;ADP92201;ADP92202;ADP92203;ADP92204;ADP92205;ADP92206;ADP92207;ADP92208;ADP92209;ADP92210;ADP92211;ADP92212;ADP92213;BAF84030;BAG36328;BAG61398;CAA03797;CAA33679;CAA61578;CAA61579;CAA70211;CAG46474;CAH18195;CBX87166;EAW97846;EAW97847;EAW97848;EAW97849;EAW97850;NP_003353;NP_550433;P13051 Hs.191334 1651044;1680260;1797024;2151610 RH15692;RH75801;UNG_288;WI-19583 DGU;DKFZp781L1143;HIGM4;HIGM5;UDG;UNG1;UNG15;UNG2 OTTHUMP00000240527;OTTHUMP00000240528;OTTHUMP00000240529;uracil-DNA glycosylase 1, uracil-DNA glycosylase 2;uracil-DNA glycosylase 2 APPROVED protein-coding ENSG00000076248 HGNC:12572 01881 191525;608106 REVIEWED 1321651 UPK3A uroplakin 3A This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] 22 22 22 q13.31 29592413 29603314 + 45680868 45691755 + 45284987 45295874 + 1580863;6480464;7240710;8554872 10514386;12474225;12475947;12477932;14654529;14713856;15461802;15489334;16731295;17698128;17880289;18313120;18528285;19007907;19056867;19412341;19959718;22632162;23541324;8889548;9818021;9846985 7380 O75631 AB010116;AB010637;ABBA01007134;ABBA01007135;ABBA01007136;AF085808;AL008718;AMYH02038516;BC069544;BC108900;BM681088;BM727658;CH471138;CR456608;NG_016203;NM_001167574;NM_006953 AAC34888;AAH69544;AAI08901;BAA25678;BAA31460;CAG30494;CAK54635;CAK54934;EAW73377;NP_001161046;NP_008884;O75631 Hs.632787 MGC119178;UP3A;UPIII;UPIIIA;UPK3 OTTHUMP00000199859;OTTHUMP00000199860;uroplakin 3;uroplakin III;uroplakin-3a APPROVED protein-coding ENSG00000100373 HGNC:12580 15625 191830;611559 REVIEWED 1313669 UPP1 uridine phosphorylase 1 The 2 known types of pyrimidine nucleoside phosphorylases, uridine phosphorylase (UP; EC 2.4.2.3) and thymidine phosphorylase (TP; EC 2.4.2.4), in the presence of orthophosphate, catalyze the reversible phosphorolysis of uridine and thymidine or deoxyuridine, respectively, to free bases and ribose-1-phosphate or deoxyribose-1-phosphate. Pyrimidine nucleoside phosphorylases can add ribose or deoxyribose to pyrimidine bases to form nucleosides that can be incorporated into RNA or DNA (Watanabe and Uchida, 1995 [PubMed 7488099]).[supplied by OMIM, Aug 2009] 7 7 7 p12.3 48227538 48247515 + 48128355 48148330 + 48088603 48108733 + 2317094;6480464;6907045 18457515 11278417;11807789;12036313;12084455;12115385;12477932;14702039;15489334;16798057;18457437;19291308;19714313;20856879;21906983;22632162;22939629;7488099;752472 7378 B4DND0;C9J486;C9JIP2;C9K0J2;F8WD51;Q16831;Q86Y75 ABBA01041078;AC069279;AC122132;AK096167;AK297863;AMYH02015667;BC001405;BC007348;BC047030;BC053592;BE622095;BE901028;BF027447;BF668084;BI199725;BM544854;BM557506;BT006699;BU528636;CD105246;CH236955;CH236958;CH471128;NM_001287426;NM_001287428;NM_001287429;NM_001287430;NM_003364;NR_109837;X90858;XM_005249838;XM_006715771 AAH01405;AAH07348;AAH47030;AAH53592;AAP35345;BAG60192;CAA62369;CAA62370;EAW60993;EAW60994;EAW60995;EAW60996;NP_001274355;NP_001274357;NP_001274358;NP_001274359;NP_003355;Q16831;XP_005249895;XP_006715834 Hs.488240 1671476;2107753;5020948 G35510;UPP1_7899;WI-11994 UP;UPP OTTHUMP00000159566;OTTHUMP00000208692;UDRPASE;UPASE;UPase 1;urdPase 1 APPROVED protein-coding ENSG00000183696 HGNC:12576 08932 191730 VALIDATED 6481114 UPP2-IT1 UPP2 intronic transcript 1 (non-protein coding) q24.1 100874283 AC005539 ncrna HGNC:41467 1320049 UPK3B uroplakin 3B UPK3B is a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b (UPK1B; MIM 602380), one of the major conserved urothelium membrane proteins. The other major conserved integral membrane proteins of urothelial plaques are UPK1A (MIM 611557), UPK2 (MIM 611558), and UPK3A (MIM 611559) (Deng et al., 2002 [PubMed 12446744]).[supplied by OMIM, Mar 2008] 7 7 7 q11.2 71125856 71131683 - 76139650 76157200 + 76510333 76527883 + 6480464;8554872 12446744;12477932;12853948;14702039;15489334;16814572;17207965;18029348;18776082;21984916;24430505 80761 Q9BT76 ABBA01005630;ABBA01005631;AC004980;AC007078;AC237298;AK056760;AK290096;AMYH02016088;AY233462;BC004304;BE615406;BM921749;BP352210;BQ689127;BU150542;NM_030570;NM_182683;NM_182684;XM_005250612;XM_005250613;XM_005250614;XM_006716140;XM_006716141;XM_006716142 AAH04304;AAO89507;AAS07526;ADQ32327;BAF82785;BAG51807;NP_085047;NP_872624;NP_872625;Q9BT76;XP_005250669;XP_005250670;XP_005250671;XP_006716203;XP_006716204;XP_006716205 Hs.488861 FLJ32198;MGC10902;P35;UP3B;UPIIIb OTTHUMP00000195161;OTTHUMP00000195162;OTTHUMP00000195163;uroplakin IIIb;uroplakin-3b APPROVED protein-coding ENSG00000243566 HGNC:21444 15626 611887 VALIDATED 2801955 UPK3BL uroplakin 3B-like FOUND IN integral component of membrane (inferred); INTERACTS WITH diethylstilbestrol (ortholog) 7 7 q22.1 102277472 102283238 - 102637025 102642791 - 6480464 21890473;21963094 100134938 B0FP48;E5RIL1;T2F9S8 AC105052;AMYH02016441;EU341824;NM_001114403 ABY56115;B0FP48;NP_001107875 Hs.610255 5016944;5022200;5022450;5022578;5111975;5127386 D10S275;D1S1423;G43579;L18426;RH93196;SHGC-31100 UPLP OTTHUMP00000228234;uroplakin-3-like protein;uroplakin-3b-like protein;uroplakin-like protein protein-coding ENSG00000267368 HGNC:37278 VALIDATED 1317821 UPP2 uridine phosphorylase 2 ENCODES a protein that exhibits uridine phosphorylase activity; INVOLVED IN nucleobase-containing small molecule metabolic process (inferred); nucleotide catabolic process (inferred); pyrimidine nucleobase metabolic process (inferred); PARTICIPATES IN pyrimidine metabolic pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN type III intermediate filament; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 17alpha-ethynylestradiol (ortholog); 1H-pyrazole (ortholog) 2 2 2 q24.1 152468457 152609424 + 158733213 158992666 + 157995179 158136154 + 1580863;6480464;6907045;8554872 11278417;12477932;12849978;14702039;15489334;15815621;17207965;19401682;20932310;21151189;21855639 151531 O95045 AA995921;ABBA01004849;ABBA01004850;AC005539;AK122743;AMYH02005054;AMYH02005055;AMYH02005056;AMYH02005057;AW771260;AY225131;BC033529;CH471058;NM_001135098;NM_173355;XM_005246359 AAD12227;AAH33529;AAO61681;ADQ32354;BAG53699;EAX11437;NP_001128570;NP_775491;O95045;XP_005246416 Hs.128427 1674677;1709618;1756635;2149307;2177161 SHGC-143679;SHGC-31345;SHGC-85171;WI-14252;WI-14877 UDRPASE2;UP2;UPASE2 OTTHUMP00000162808;OTTHUMP00000204647;UPase 2;liver-specific uridine phosphorylase;urdPase 2;uridine phosphorylase-2 protein-coding ENSG00000007001 HGNC:23061 15627 VALIDATED 1605870 UPRT uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The protein is a potential target for rational design of drugs to treat parasitic infections and cancer. [provided by RefSeq, Nov 2009] X X X q13.3 74777320 74808158 + 74493894 74524732 + 75274059 75304897 + 5132591;6480464;6907045 1476792 12477932;14702039;15489334;15772651;16189514;16344560;17384901;18626508;22797925 139596 A8KAF9;E9PSD7;F8W6E9;Q96BW1 AA974609;ABBA01059468;ABBA01059469;ABBA01059470;ABBA01059471;AK056354;AK293024;AK309951;AL137013;AL590234;AMYH02039786;AY643714;BC015116;CH471104;CK818555;CR749336;DA512889;NG_015972;NM_145052;NR_030774;XM_006724620 AAH15116;AAT64916;BAF85713;CAH18190;EAW98630;EAW98631;NP_659489;Q96BW1;XP_006724683 Hs.91612 1671524;2220290 AB063065;SHGC-36950 DKFZp781E1243;FUR1;MGC23937;RP11-311P8.3;UPP OTTHUMP00000023580;OTTHUMP00000023581;OTTHUMP00000233816;UMP pyrophosphorylase;UPRTase;uracil phosphoribosyltransferase homolog APPROVED protein-coding ENSG00000094841 HGNC:28334 06640 300656 REVIEWED 2298819 UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH coumestrol 11 11 11 q12.3 59768705 59769431 + 62439126 62441162 + 62671654 62673690 + 6480464;8554872 12477932;12975309;15340161;15489334;20159687;21139048;21890473;22939629;25008109;8889548 790955 Q6UW78 ABBA01003236;AI972746;AMYH02024896;AP001458;AY358935;BC090057;BF055120;BG385605;CA422425;CF131173;CS072473;NM_001085372 AAH90057;AAQ89294;CAI93611;NP_001078841;Q6UW78 Hs.569009 C11orf83;CCDS41658.1;MGC87549;UNQ655 UPF0723 protein C11orf83;VEGA:LOC790955;hypothetical protein LOC790955 APPROVED protein-coding ENSG00000204922 HGNC:34399 VALIDATED 1604015 UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008] 22 22 22 q12.2 13963088 13966132 + 30163358 30166402 + 29767369 29770413 + 6480464;6907045 10591208;11042152;12107413;12477932;15489334;16054089;20877624;21139048;21890473;22277967;22939629;24250222;8125298;8592474;8889548;9651245 29796 Q9NZY4;Q9UDW1 AB028598;ABBA01055277;AC004882;AF112217;AF161468;AF161500;AF161536;AK225973;AMYH02038208;BC005402;BC015971;BI754905;BU935406;CA311834;CB999839;CD674029;CH471095;NM_001003684;NM_013387 AAF17205;AAF29023;AAF29083;AAF29115;AAH05402;AAH15971;BAB20672;EAW59839;EAW59840;EAW59841;NP_001003684;NP_037519;Q9UDW1 Hs.284292 1771637;1846745;2146262;2155029 D1S3348;D22S1554;G18190;STS-AA025006 HSPC051;HSPC119;HSPC151;QCR9;UCCR7.2;UCRC OTTHUMP00000199673;OTTHUMP00000199674;complex III subunit 9;complex III subunit X;cytochrome C1, nonheme 7kDa protein;cytochrome b-c1 complex subunit 9;cytochrome c1 non-heme 7 kDa protein;ubiquinol-cytochrome c reductase complex (7.2 kD);ubiquinol-cytochrome c reductase complex 7.2 kDa protein;ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa APPROVED protein-coding ENSG00000184076 HGNC:30863 13691 610843 VALIDATED 1315803 UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012] 6 6 6 p21.31 35219736 35233893 - 33664538 33679528 - 33696761 33711751 - 6480464;8699517 12477932;14574404;15146197;15489334;16344560;18029348;19643811;19851445;20877624;21988832;22277967;22363741;23443559;24250222;24385928;8889548 84300 Q5TAQ0;Q9BRT2;V5IRT4 ABBA01038161;AF086234;AI688269;AK127468;AK311835;AL139044;AMYH02013498;AY568085;BC006007;BI604191;CB241659;CH471081;CN261727;DA123098;NG_034147;NM_032340 AAH06007;AAS68365;BAG34777;EAX03745;NP_115716;Q9BRT2 Hs.745020 1657720;1659084;1694550;1735606;2115794;2131179;2156826;2178654;2180651;5113282;5491207 AI790199;D6S1191E;D6S2048;G43195;RH36260;RH46603;RH46652;RH93741;STS-H94315;STS-U01062;WI-22215 C6orf125;Cbp6;M19;MGC14833;MNF1;bA6B20.2 OTTHUMP00000016216;OTTHUMP00000016217;breast cancer associated protein SGA-81M;breast cancer-associated protein SGA-81M;cytochrome B protein synthesis 6 homolog;hypothetical protein LOC84300;mitochondrial nucleoid factor 1;mitochondrial protein M19;ubiquinol-cytochrome-c reductase complex assembly factor 2;uncharacterized protein C6orf125 APPROVED protein-coding ENSG00000137288 HGNC:21237 12847 614461;615824 REVIEWED 1348323 UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009] 19 19 19 p13.3 1532010 1540339 - 1597154 1605483 - 1597155 1605484 - 737633;1580863;6480464;6907045 12477932 10453733;15057824;15489334;20877624;21890473;21988832;22939629;24250222;9161705 10975 O14957 AA807820;ABBA01002664;AC005321;AC005943;AK312053;AMYH02035156;AMYH02035157;BC000462;BC003594;CH471139;D55636;DW465790;NM_006830 AAC27374;AAC72105;AAH00462;AAH03594;ABM83117;ABM86313;BAA21748;BAG34989;EAW69474;EAW69475;EAW69476;NP_006821;O14957 Hs.8372 1674804;2168502;2186531 A004X40;SHGC-32985;STS-AA029849 0710008D09Rik;QCR10;UQCR complex III subunit 10;complex III subunit XI;cytochrome b-c1 complex subunit 10;ubiquinol cytochrome c reductase, 6.4kDa subunit;ubiquinol-cytochrome c reductase complex 6.4 kDa protein;ubiquinol-cytochrome c reductase, 6.4kDa subunit APPROVED protein-coding ENSG00000127540 HGNC:30862 15628 609711 REVIEWED 1346078 UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q25-q26 119422616 119441635 - 118941115 118986991 - 119807043 119853028 - 1580863;6480464;6907045;7240710;8554872;8699517 11113196;11163187;11546873;11546874;12093754;12226669;12417715;12477932;12554878;12718880;12723973;14527413;14702039;15004547;15146197;15231747;15361857;15635413;15680326;16169070;16209946;16344560;16452507;16601204;17194930;17704778;18029348;18066079;18256688;18369367;18423201;18976975;19238151;19417104;19503078;19615732;19884259;20371770;20479275;20479756;21139048;21145460;21145461;22182939;22609145;22939629;22957832;23084401;23125841;23305486;23891004;23925499;24163370;24778252;24816145;8012384;9933612 65109 Q0VAK7;Q9BZI7 ABBA01036621;ABBA01036622;AC002477;AC005052;AF318576;AK093728;AMYH02040345;AY013251;BC008494;BC121017;BC121018;BF223724;BI549935;CH471161;CN412717;DA949746;EG328250;NG_009241;NM_023010;NM_080632;XM_005262458;XM_006724780;XM_006724781;Z55204;Z59665 AAG48511;AAG60691;AAI21018;AAI21019;BAG52755;EAW89842;EAW89843;EAW89844;EAW89845;EAW89846;NP_075386;NP_542199;Q9BZI7;XP_005262515;XP_006724843;XP_006724844 Hs.103832 5037552;5123167 D8S2279;RH47685 HUPF3B;MRX62;MRXS14;RENT3B;UPF3X OTTHUMP00000023923;OTTHUMP00000023924;hUpf3p-X;mental retardation, X-linked 62;nonsense mRNA reducing factor 3B;regulator of nonsense transcripts 3B;up-frameshift suppressor 3 homolog B;up-frameshift suppressor 3 homolog on chromosome X APPROVED protein-coding ENSG00000125351 HGNC:20439 02247 300298;300676 REVIEWED 1323703 UQCRB ubiquinol-cytochrome c reductase binding protein This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011] 8 8 8 q22 93425296 93433854 - 97238904 97247862 - 96226676 96235634 - 1599707;1580863;1300048;6480464;6907045;7240710;8699517;8554872 12709789 12477932;15489334;16189514;18445752;19064571;19077451;19549744;20803152;20877624;21215626;2159470;2167087;21890473;21906983;22545919;22939629;23443559;23475074;23708980;24250222;24583282;24816145;2543413;2981208;3056408;8751380 7381 B7Z2R2;E5RHG9;E5RIT7;P14927 ABBA01037490;AI365233;AK295007;AK307085;AK311756;AMYH02018454;AP003465;AV747179;BC005230;BC041005;BI547559;BU535281;CH471060;CR542176;CR542196;M22348;M26700;M26701;M26730;M37387;NG_008237;NM_001199975;NM_001254752;NM_006294;NR_045639;X13585;XM_006716652 AAA60235;AAA60236;AAA60237;AAA60238;AAA60361;AAH05230;BAG34699;BAH11948;CAA31926;CAG46973;CAG46993;EAW91749;NP_001186904;NP_001241681;NP_006285;P14927;XP_006716715 Hs.131255 1656130;1668846;1680533;2140903;5015881;5037552 A007G39;D8S2279;GDB:335751;RH70819;SHGC-12379;WI-14041 FLJ92016;FLJ97033;MC3DN3;QCR7;QP-C;QPC;UQBC;UQBP;UQCR6;UQPC OTTHUMP00000227273;OTTHUMP00000227274;OTTHUMP00000227276;OTTHUMP00000227277;complex III subunit 7;complex III subunit VII;cytochrome b-c1 complex subunit 7;mitochondrial ubiquinone-binding protein;ubiquinol-cytochrome c reductase complex 14 kDa protein;ubiquinol-cytochrome c reductase, complex III subunit VI;ubiquinone-binding protein APPROVED protein-coding ENSG00000156467 HGNC:12582 11770 124000;191330;615158 REVIEWED 4144423 UQCRBP3 ubiquinol-cytochrome c reductase binding protein pseudogene 3 5 5 5 p15.2 14898325 14898650 - 14874510 14874820 - 14874401 14874711 - 100288785 ABBA01020641;AC016575;AMYH02010903;NG_028711 pseudo HGNC:39033 INFERRED 6893021 UQCRC2P1 ubiquinol-cytochrome c reductase core protein II pseudogene 1 3 3 3 p21.31 46289233 46290816 - 46351884 46353467 - 46310393 46311976 - 18311140 100131327 ABBA01024719;AC138069;AMYH02006669;NG_022204 pseudo HGNC:44309 INFERRED 1342599 UQCRC1 ubiquinol-cytochrome c reductase core protein I ENCODES a protein that exhibits metal ion binding (inferred); protein complex binding (inferred); ubiquinol-cytochrome-c reductase activity (inferred); INVOLVED IN aerobic respiration (inferred); cellular metabolic process (inferred); hydrogen ion transmembrane transport (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; FOUND IN mitochondrion; INTERACTS WITH arsane; arsenic atom; atrazine 3 3 3 p21.3 48592174 48602839 - 48636432 48647391 - 48598999 48609665 - 1331810;1580863;6480464;6907045 8407948 10453733;11073949;12067236;12477932;15231747;15242332;15489334;15967462;16196087;16775426;17353931;17500595;18029348;18157088;1846623;18781797;18976975;19110265;19165527;20186120;20877624;21139048;21890473;21906983;21963094;22304920;22505724;22586326;22939629;23246001;24250222;24583282;24654937;25027693;6251869;7951059;7981668;8069229;8313870;8889549 7384 F8WEF1;F8WER5;P31930 AA284910;ABBA01024643;AC121252;AK129903;AK300694;AK302840;AK313090;AMYH02006722;BC009586;CH471055;D26485;L16842;NM_003365 AAA20046;AAH09586;BAA05495;BAG35915;BAG62377;BAG64031;EAW64898;NP_003356;P31930 Hs.119251 1730171;1735074;1744783;2117641;5017740 D3S1320E;D3S2761E;GDB:568587;RH11439;UQCRC1 D3S3191;QCR1;UQCR1 OTTHUMP00000164820;complex III subunit 1;core protein I;cytochrome b-c1 complex subunit 1, mitochondrial;ubiquinol-cytochrome-c reductase complex core protein 1 protein-coding ENSG00000010256 HGNC:12585 01875 191328 VALIDATED 1352193 UQCRC2 ubiquinol-cytochrome c reductase core protein II ENCODES a protein that exhibits metal ion binding (inferred); metalloendopeptidase activity (inferred); protein complex binding (inferred); INVOLVED IN aerobic respiration (inferred); cellular metabolic process (inferred); oxidative phosphorylation (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; ASSOCIATED WITH Autosomal recessive inheritance (inferred); Hyperammonemia (inferred); Hypoglycemia (inferred); FOUND IN extracellular vesicular exosome; mitochondrion; INTERACTS WITH arsenous acid; caffeine; chromium(6+) 16 16 16 p12 20743517 20773579 + 21964609 21994668 + 21953288 21983347 + 1580863;6480464;6907045;8699517;8554872;7240710 11073949;12067236;12477932;14702039;15489334;16196087;16335966;17353931;17500595;17725712;18029348;18614564;18781797;19596235;20186120;20677014;20877624;21078624;21081666;21139048;2162168;21890473;21906983;21963094;21987572;22268729;22304920;22354994;22505724;22586326;22797925;22939629;23281071;23464991;23798571;24583282;24654937;25027693;2547763;8288258 7385 H3BP04;H3BRG4;H3BSJ9;H3BUE4;H3BUI9;P22695 ABBA01003851;ABBA01003852;AC092119;AC241401;AC241988;AK093106;AK094006;AK307535;BC000484;BC003136;CH471249;J04973;NM_003366 AAA35710;AAH00484;AAH03136;ABM82316;ABM85491;BAG52796;EAW50590;EAW50591;EAW50592;NP_003357;P22695 Hs.528803 1664527;1676620;1736556;1736562;2135078;2156498;2185940;5016411 D16S2552E;D16S2557E;RH65269;SHGC-52911;SHGC-60700;SHGC-60745;SHGC-61151;STS-J04973 MC3DN5;QCR2;UQCR2 OTTHUMP00000162338;complex III subunit 2;core protein II;cytochrome b-c1 complex subunit 2, mitochondrial;ubiquinol-cytochrome-c reductase complex core protein 2 protein-coding ENSG00000140740 HGNC:12586 01876 191329;615160 VALIDATED 1350936 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ENCODES a protein that exhibits 2 iron, 2 sulfur cluster binding (inferred); metal ion binding (inferred); protein complex binding (inferred); INVOLVED IN cellular metabolic process (inferred); hydrogen ion transmembrane transport (inferred); respiratory electron transport chain (inferred); PARTICIPATES IN Alzheimer disease pathway; Huntington disease pathway; oxidative phosphorylation pathway; FOUND IN mitochondrion; INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; 2-naphthylamine 19 19 19 q12 26400450 26406405 - 29698167 29704136 - 29207260 29213229 - 1580863;6480464;6907045 12477932;12821338;15047214;15057824;15489334;17207965;18029348;18854154;19064571;20379614;20877624;21139048;2158323;21890473;21901141;21906983;21988832;22939629;23168492;24250222;24816145;2999105;7721092;8088805;9150947 7386 P47985 ABBA01039534;AC007786;AK000225;AK291134;AMYH02035868;BC000649;BC010035;BC067832;BF210184;BF979273;L32917;L32977;NM_006003 AAC41754;AAD38242;AAH00649;AAH10035;AAH67832;ABM82767;ADQ32468;BAF83823;NP_005994;P47985 Hs.743307 1678905;1745461;1793108;2118972;2189519 G13234;GDB:607737;PMC196577P2;RH143354;RH39082 RIP1;RIS1;RISP;UQCR5 Rieske iron-sulfur protein;complex III subunit 5;cytochrome b-c1 complex subunit 5;cytochrome b-c1 complex subunit Rieske, mitochondrial;ubiquinol-cytochrome c reductase iron-sulfur subunit protein-coding HGNC:12587 01874 191327 VALIDATED 1351451 UQCRFS1P1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 1 ENCODES a protein that exhibits 2 iron, 2 sulfur cluster binding (inferred); metal ion binding (inferred); ubiquinol-cytochrome-c reductase activity (inferred); INVOLVED IN hydrogen ion transmembrane transport (inferred); oxidation-reduction process (inferred); FOUND IN membrane (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog) 22 22 22 q13.1 24073359 24074178 + 40271300 40272312 + 39875296 39876308 + 6480464 18029348;22939629;24816145;8088805 100128525 P0C7P4 ABBA01055585;AMYH02038389;NG_009458;Z82206 P0C7P4 1678905;1745461;1793108;2118972 G13234;GDB:607737;PMC196577P2;RH39082 UQCRFSL1 APPROVED pseudo HGNC:12588 INFERRED 1350764 UQCRBP1 ubiquinol-cytochrome c reductase binding protein pseudogene 1 X X X p11.21 60595485 60596281 - 56763221 56764017 - 56736788 56737584 - 2543413;8751380 442454;7382 ABBA01069396;AL158200;AMYH02039526;EH340299;NR_002308 Hs.663220 pseudo HGNC:12583 PROVISIONAL 1314343 UQCRH ubiquinol-cytochrome c reductase hinge protein ENCODES a protein that exhibits protein complex binding (inferred); ubiquinol-cytochrome-c reductase activity (inferred); INVOLVED IN aerobic respiration (inferred); cellular metabolic process (inferred); hydrogen ion transmembrane transport (inferred); PARTICIPATES IN electron transport chain pathway; Alzheimer disease pathway; Huntington disease pathway; FOUND IN mitochondrion; INTERACTS WITH 2-methylcholine; 4-hydroxyphenyl retinamide; atrazine 1 1 1 p34.1 45056760 45069814 + 46769324 46782448 + 46303654 46316776 + 1580863;1300048;2301375;6480464;6907045 3036796 12477932;12881716;15489334;16710414;17081983;17500595;19343720;20877624;21988832;22082156;22939629;23402259;24583282;24816145;2826252;7684318;7821789 7388 P07919;Q567R0 AA526171;ABBA01050840;ABBA01050841;AK311967;AL122001;AMYH02000956;AMYH02000957;BC001426;BC001934;BC015177;BC093060;BC107703;BG472687;BP366403;BT007070;CH471059;D28439;M36647;NM_001297565;NM_001297566;NM_006004;S61826;XM_005271167;Y00764 AAA36317;AAD13930;AAH01426;AAH01934;AAH15177;AAH93060;AAI07704;AAP35733;BAA05805;BAG34906;CAA68733;EAX06922;EAX06923;EAX06924;EAX06925;EAX06926;NP_001284494;NP_001284495;NP_005995;P07919;XP_005271224 Hs.481571 1678587;1853719;2141179;5106823 Bdy97d04;D1S2499;D1S3548;G07077 MGC111572;QCR6;UQCR8 OTTHUMP00000009481;complex III subunit 6;complex III subunit VIII;cytochrome b-c1 complex subunit 6, mitochondrial;cytochrome c1 non-heme 11 kDa protein;mitochondrial hinge protein;ubiquinol-cytochrome c reductase complex 11 kDa protein;ubiquinol-cytochrome c reductase, complex III subunit VIII protein-coding ENSG00000173660 HGNC:12590 15629 613844 VALIDATED 1344821 UQCRHP1 ubiquinol-cytochrome c reductase hinge protein pseudogene 1 404025 HGNC:31341 1354116 UQCRBP2 ubiquinol-cytochrome c reductase binding protein pseudogene 2 1 1 1 q23.3 135614161 135614488 - 162511122 162511449 - 162541332 162541659 - 2543413 100130719 ABBA01047304;AL596325;AMYH02002041;NG_027838 1339875;1680533 D1S2768;RH70819 pseudo HGNC:12584 INFERRED 3207586 UQCRHP2 ubiquinol-cytochrome c reductase hinge protein pseudogene 2 2 2 2 p23.3 26057898 26058434 + 26217604 26218140 + 25994735 25995271 + 729769 ABBA01045170;AC013449;AMYH02003452;NG_023004 pseudo HGNC:38045 INFERRED 4772784 UQCRFS1P3 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 3 6 6 6 p22.3 20876398 20877552 - 19638274 19639428 - 19638043 19639197 - 100130994 ABBA01022244;AL391054;AMYH02013239;NG_022295 1694152 AL008747 pseudo HGNC:39173 INFERRED 1604364 UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 128332343 128334559 + 132202319 132204536 + 132866627 132868844 + 6480464;6907045;7240710;8699517;8554872 12477932;15489334;15544925;16169070;18439546;20195357;20440543;20877624;2164842;21890473;22939629;23000965;8592474 27089 O14949 ABBA01068795;AC004500;AK297061;AK312148;AMYH02012220;AW327741;BC001390;BC064949;BC090048;BG678118;BU190580;BU953465;CH471062;CR743513;NG_012221;NM_014402 AAH01390;AAH90048;BAH12487;EAW62308;NP_055217;O14949 Hs.146602 1688178;1744289;1805454;1805996;1824004;1841600;2002188;2002190;2002192;2002194;2002196;2002198;2002200;2002202;2002204;2002206;2002208;2002210;2002212;2002214;2002216;2002218;2002220;2002222;2002224;2002226;2096576;2096578;5017433;5037552;5109281 D1S1425;D8S2279;ECD03675;ECD03951;ECD13098;ECD21997;GDB:451577;REN72006;REN72007;REN72008;REN72009;REN72010;REN72011;REN72012;REN72013;REN72014;REN72015;REN72016;REN72017;REN72018;REN72019;REN72020;REN72021;REN72022;REN72023;REN72024;REN72025;RH41062;STS-T76997;stSG601583;stSG601584 MC3DN4;QCR8;QP-C;QPC;UQCR7 OTTHUMP00000066205;OTTHUMP00000066206;OTTHUMP00000066207;complex III subunit 8;complex III subunit VIII;cytochrome b-c1 complex subunit 8;low molecular mass ubiquinone-binding protein (9.5kD);ubiquinol-cytochrome c reductase complex 9.5 kDa protein;ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C;ubiquinol-cytochrome c reductase, complex III subunit VII APPROVED protein-coding HGNC:29594 17941 124000;612080;615159 REVIEWED 1626260 URAD ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase ENCODES a protein that exhibits carboxy-lyase activity (ortholog); INVOLVED IN allantoin biosynthetic process (inferred); purine nucleobase metabolic process (inferred); urate catabolic process (inferred); PARTICIPATES IN purine metabolic pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN peroxisome (inferred); INTERACTS WITH 1-naphthyl isothiocyanate (ortholog); 17alpha-ethynylestradiol (ortholog); 17beta-estradiol (ortholog) 13 13 13 q12.2 9627284 9637823 - 28552243 28562774 - 27978106 27988637 - 6480464;6907045;8554872 16462750 646625 A6NGE7 ABBA01035736;AL591024;AMYH02027762;CH471075;NM_001105577 A6NGE7;EAX08423;NP_001099047 Hs.705356 PRHOXNB OHCU decarboxylase;parahox cluster neighbor;parahox neighbor;putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase APPROVED protein-coding HGNC:17785 615804 PROVISIONAL 2946958 UQCRHP1 ubiquinol-cytochrome c reductase hinge protein pseudogene 1 6 6 6 p21.33 33177088 33177361 - 31578860 31579133 - 31611083 31611356 - 20205591 100130756 ABBA01038081;AL662801;AL662847;AL929587;AMYH02013452;BX248305;CR753892;CR759905;NG_023011 Em:AF129756.18;UQCRHP5 APPROVED pseudo HGNC:31341 INFERRED 3476343 UQCRHP4 ubiquinol-cytochrome c reductase hinge protein pseudogene 4 3 3 3 p13 70116696 70116967 + 70189368 70189639 + 70140217 70140488 + 100128448 ABBA01030919;AC134025;AMYH02007029;NG_023010 2144456 D3S3375 pseudo HGNC:38047 INFERRED 7247048 URAHP urate (hydroxyiso-) hydrolase, pseudogene INTERACTS WITH benzo[a]pyrene (ortholog); progesterone (ortholog); titanium dioxide (ortholog) 16 16 16 q24.3 75170699 75178567 - 90106169 90114191 - 90039761 90047783 - 6480464 12477932;16462750;20106906 100130015 B7Z8Y8 ABBA01014115;ABBA01014116;AC133919;AK304171;AMYH02032691;BC044232;BC089450;DC393803;NR_027335;NR_027336 BAH14124 Hs.431792;Hs.599784;Hs.719553 URAH pseudo ENSG00000222019 HGNC:43695 615805 VALIDATED 4759378 UQCRFS1P2 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 2 7 7 7 q34 133124166 133125574 + 138386404 138387812 + 138701659 138703067 + 11181995;12690205 647123 ABBA01001173;AC020983;AMYH02016871;CH236950;CH471070;NG_009734 EAL24044;EAW83891 pseudo HGNC:39172 INFERRED 1350828 URB1-AS1 URB1 antisense RNA 1 (head to head) INTERACTS WITH cyclosporin A; lead(0); lead(2+) 21 21 21 q22.11 18949069 18949896 + 33765442 33766269 + 32393133 32393960 + 6480464 12477932;15489334 84996 Q96HZ7 ABBA01057313;AI369236;AK026376;AMYH02037722;AP000269;BC007928;CH471079;NR_026845 EAX09875;Q96HZ7 Hs.58149 1799574;1818284;1819006;1853658;2019704;2019706;2019708;2019710;2019712;2019714;2019716;2019718;2019720;2019722;2019724;2019726;2019728;2019730;2099772;2099774 ECD00639;ECD10199;ECD10568;REN80800;REN80801;REN80802;REN80803;REN80804;REN80805;REN80806;REN80807;REN80808;REN80809;REN80810;REN80811;REN80812;REN80813;SHGC-57897;stSG606361;stSG606362 C21orf119;MGC14136;PRED84 APPROVED ncrna ENSG00000256073 HGNC:23128 12792 VALIDATED 1345532 UQCC1 ubiquinol-cytochrome c reductase complex assembly factor 1 This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 20 20 20 q11.22 30638977 30748569 - 33890369 33999945 - 35302566 35412142 - 6480464;8554872 11076863;11118897;11780052;12477932;12878157;14702039;15489334;15489336;16381901;17355966;18193045;18391950;18391951;18391952;19266077;19343178;19578754;19863319;20072657;20189936;20444731;20546612;20877624;21043486;21077742;21110828;21208810;21224470;23207799;24250222;24385928;8125298 55245 B1AKV2;B1AKV3;B1AKV4;B1AKV6;B7Z1C6;B7Z314;B7Z7J8;D6RDV2;F8WAM1;F8WCR2;H7BZM2;H7C3C3;H7C611;Q3KRB6;Q9NVA1 ABBA01019160;ABBA01019161;ABBA01019162;ABBA01019163;ABBA01019164;ABBA01019165;AF173893;AK001712;AK022650;AK022742;AK093804;AK128252;AK225281;AK225557;AK293149;AK293516;AK295379;AK300130;AK302133;AK308819;AL121752;AL121753;AL122112;AMYH02036997;AMYH02036998;AMYH02036999;AU280736;AY050659;AY050660;BC008871;BC105791;BC119013;BC122862;BM919736;BX537568;CH471077;FO393401;NG_021421;NM_001184977;NM_018244;NM_199487;XM_006723814 AAI05792;AAI19014;AAI22863;AAL13118;AAL13119;AAQ13640;BAA91854;BAB14156;BAB14217;BAH11462;BAH11526;BAH12050;BAH13218;BAH13634;CAD97785;CAL37762;CAL38728;EAW76210;EAW76211;EAW76212;EAW76213;EAW76214;EAW76215;EAW76216;EAW76217;NP_001171906;NP_060714;NP_955781;Q9NVA1;XP_006723877 Hs.726290 1667738;1671277;1690416;1708672;1749343;1800338;1802066;1802068;1802106;1802344;1803630;1804174;1804536;1807528;1807870;1808076;1809882;1810168;1810234;1810398;1811498;1812420;1814106;1814598;1815596;1815852;1816810;1817266;1817722;1817834;1817900;1818854;1819696;1819960;1821510;1821776;1822148;1822214;1822216;1823026;1823104;1824932;1825020;1825104;1825322;1825794;1826298;1826478;1826848;1827640;1828044;1828638;1830468;1830698;1830726;1831068;1831114;1831854;1832192;1832374;1832840;1832940;1833234;1835186;1835188;1835782;1836082;1836212;1836572;1836796;1837180;1837738;1837740;1837940;1838188;1838914;1839198;1839496;1839890;1839938;1840360;1840928;1841654;1841850;1842622;1842842;1842896;1843084;1843574;1843786;1844194;1844360;1844846;1845006;1845076;1846140;1846264;1846396;1852065;1972616;1972618;1972620;1972622;1972624;1972626;1972628;1972630;1972632;1972634;1972636;1972638;1972640;1972642;1972644;1972646;1972648;1972650;1972652;1972654;1972656;1972658;1972660;1972662;1972664;1972666;1972668;1972670;1972672;1972674;1972676;1972678;1972680;1972682;1972684;1972686;1972688;1972690;1972692;1972694;1972696;1972698;1972700;1972702;1972704;1972706;1972708;1972710;1972712;1972714;1972716;1972718;1972720;1972722;1972724;1972726;1972728;1972730;1972732;1972734;1972736;1972738;1972740;1972742;1972744;1972746;1972748;1972750;1972752;1972754;1972756;1972758;1972760;1972762;1972764;1972766;1972768;1972770;1972772;1972774;1972776;1972778;1972780;1972782;1972784;1972786;1972788;1972790;1972792;1972794;1972796;1972798;1972800;1972802;1972804;1972806;1972808;1972810;1972812;1972814;1972816;1972818;1972820;1972822;1972824;1972826;1972828;1972830;1972832;1972834;1972836;1972838;1972840;1972842;1972844;1972846;1972848;1972850;1972852;1972854;1972856;1972858;1972860;1972862;1972864;1972866;1972868;1972870;1972872;1972874;1972876;1972878;1972880;1972882;1972884;1972886;1972888;1972890;1972892;1972894;1972896;1972898;1972900;1972902;1972904;1972906;1972908;1972910;1972912;1972914;1972916;1972918;1972920;1972922;1972924;1972926;1972928;1972930;1972932;1972934;1972936;1972938;1972940;1972942;1972944;1972946;1972948;1972950;1972952;1972954;1972956;1972958;1972960;1972962;1972964;1972966;1972968;1972970;1972972;1972974;1972976;1972978;1972980;1972982;1972984;1972986;1972988;1972990;1972992;1972994;1972996;1972998;1973000;1973002;1973004;1973006;1973008;1973010;1973012;1973014;1973016;1973018;1973020;1973022;1973024;1973026;1973028;1973030;1973032;1973034;1973036;1973038;1973040;1973042;1973044;1973046;1973048;1973050;1973052;1973054;1973056;1973058;1973060;1973062;1973064;1973066;1973068;1973070;1973072;1973074;1973076;1973078;1973080;1973082;1973084;1973086;1973088;1973090;1973092;1973094;1973096;1973098;1973100;1973102;1973104;1973106;1973108;1973110;1973112;1973114;1973116;1973118;1973120;1973122;1973124;1973126;1973128;1973130;1973132;1973134;1973136;1973138;1973140;1973142;1973144;1973146;1973148;1973150;1973152;1973154;1973156;1973158;1973160;1973162;1973164;1973166;1973168;1973170;1973172;1973174;1973176;1973178;1973180;1973182;1973184;1973186;1973188;1973190;1973192;1973194;1973196;1973198;1973200;1973202;1973204;1973206;1973208;1973210;1973212;1973214;1973216;1973218;1973220;1973222;1973224;1973226;1973228;1973230;1973232;1973234;1973236;1973238;1973240;1973242;1973244;1973246;1973248;1973250;1973252;1973254;1973256;1973258;1973260;1973262;1973264;1973266;1973268;1973270;1973272;1973274;1973276;1973278;1973280;1973282;1973284;1973286;1973288;1973290;1973292;1973294;1973296;1973298;1973300;1973302;1973304;1973306;1973308;1973310;1973312;1973314;1973316;1973318;1973320;1973322;1973324;1973326;1973328;1973330;1973332;1973334;1973336;1973338;1973340;1973342;1973344;1973346;1973348;1973350;1973352;1973354;1973356;1973358;1973360;1973362;1973364;1973366;1973368;1973370;1973372;1973374;1973376;1973378;1973380;1973382;1973384;1973386;1973388;1973390;1973392;1973394;1973396;1973398;1973400;1973402;1973404;1973406;1973408;1973410;1973412;1973414;1973416;1973418;1973420;1973422;1973424;1973426;1973428;1973430;1973432;1973434;1973436;1973438;1973440;1973442;1973444;1973446;1973448;1973450;1973452;1973454;1973456;1973458;1973460;1973462;1973464;1973466;1973468;1973470;1973472;1973474;1973476;1973478;1973480;1973482;1973484;1973486;1973488;1973490;1973492;1973494;1973496;1973498;1973500;1973502;1973504;1973506;1973508;1973510;1973512;1973514;2119858;2122057;2168390;2183253;2215074;2215076;2215078;2215080;2215082;2215084;2215086;2215088;2215090;2215092;2215094;2215096;2215098;2215100;2215102;2215104;2215106;2215108;2215110;2215112;2215114;2215116;2215118;2215120;2215122;2215124;2215126;2215128;2215130;2215132;2215134;2215136;2215138;2215140;2215142;2215144;2215146;2215148;2215150;2215152;2215154;2215156;2215158;2215160;2215162;2215164;2215166;2215168;2215170;2215172;2215174;2215176;2215178;2215180;2215182;2215184;2215186;2215188;2215190;2215192;2215194;2215196;2215198;2215200;2215202;2215204;2215206;2215208;2215210;2215212;2215214;2215216;2215218;2215220;2215222;2215224;2215226;2215228;2215230 A006Y33;A046ZF1;D20S800;ECD01028;ECD01914;ECD01915;ECD01935;ECD02056;ECD02721;ECD03007;ECD03197;ECD04736;ECD04910;ECD05016;ECD05933;ECD06076;ECD06109;ECD06191;ECD06749;ECD07217;ECD08082;ECD08329;ECD08835;ECD08966;ECD09451;ECD09683;ECD09914;ECD09971;ECD10004;ECD10491;ECD10915;ECD11051;ECD11839;ECD11974;ECD12160;ECD12193;ECD12194;ECD12601;ECD12640;ECD13565;ECD13609;ECD13653;ECD13767;ECD14005;ECD14262;ECD14353;ECD14539;ECD14940;ECD15145;ECD15446;ECD16368;ECD16485;ECD16499;ECD16670;ECD16693;ECD17065;ECD17234;ECD17326;ECD17561;ECD17611;ECD17759;ECD18748;ECD18749;ECD19052;ECD19202;ECD19267;ECD19450;ECD19562;ECD19756;ECD20037;ECD20038;ECD20141;ECD20266;ECD20636;ECD20779;ECD20930;ECD21128;ECD21152;ECD21365;ECD21657;ECD22024;ECD22126;ECD22518;ECD22628;ECD22656;ECD22750;ECD22996;ECD23104;ECD23310;ECD23394;ECD23639;ECD23719;ECD23755;ECD24290;ECD24352;ECD24418;REN57193;REN57194;REN57195;REN57196;REN57197;REN57198;REN57199;REN57200;REN57201;REN57202;REN57203;REN57204;REN57205;REN57206;REN57207;REN57208;REN57209;REN57210;REN57211;REN57212;REN57213;REN57214;REN57215;REN57216;REN57217;REN57218;REN57219;REN57220;REN57221;REN57222;REN57223;REN57224;REN57225;REN57226;REN57227;REN57228;REN57229;REN57230;REN57231;REN57232;REN57233;REN57234;REN57235;REN57236;REN57237;REN57238;REN57239;REN57240;REN57241;REN57242;REN57243;REN57244;REN57245;REN57246;REN57247;REN57248;REN57249;REN57250;REN57251;REN57252;REN57253;REN57254;REN57255;REN57256;REN57257;REN57258;REN57259;REN57260;REN57261;REN57262;REN57263;REN57264;REN57265;REN57266;REN57267;REN57268;REN57269;REN57270;REN57271;REN57272;REN57273;REN57274;REN57275;REN57276;REN57277;REN57278;REN57279;REN57280;REN57281;REN57282;REN57283;REN57284;REN57285;REN57286;REN57287;REN57288;REN57289;REN57290;REN57291;REN57292;REN57293;REN57294;REN57295;REN57296;REN57297;REN57298;REN57299;REN57300;REN57301;REN57302;REN57303;REN57304;REN57305;REN57306;REN57307;REN57308;REN57309;REN57310;REN57311;REN57312;REN57313;REN57314;REN57315;REN57316;REN57317;REN57318;REN57319;REN57320;REN57321;REN57322;REN57323;REN57324;REN57325;REN57326;REN57327;REN57328;REN57329;REN57330;REN57331;REN57332;REN57333;REN57334;REN57335;REN57336;REN57337;REN57338;REN57339;REN57340;REN57341;REN57342;REN57343;REN57344;REN57345;REN57346;REN57347;REN57348;REN57349;REN57350;REN57351;REN57352;REN57353;REN57354;REN57355;REN57356;REN57357;REN57358;REN57359;REN57360;REN57361;REN57362;REN57363;REN57364;REN57365;REN57366;REN57367;REN57368;REN57369;REN57370;REN57371;REN57372;REN57373;REN57374;REN57375;REN57376;REN57378;REN57379;REN57380;REN57381;REN57382;REN57383;REN57384;REN57385;REN57386;REN57387;REN57388;REN57389;REN57390;REN57391;REN57392;REN57393;REN57394;REN57395;REN57396;REN57397;REN57398;REN57399;REN57400;REN57401;REN57402;REN57403;REN57404;REN57405;REN57406;REN57407;REN57408;REN57409;REN57410;REN57411;REN57412;REN57413;REN57414;REN57415;REN57416;REN57417;REN57418;REN57419;REN57420;REN57421;REN57422;REN57423;REN57424;REN57425;REN57426;REN57427;REN57428;REN57429;REN57430;REN57431;REN57432;REN57433;REN57434;REN57435;REN57436;REN57437;REN57438;REN57439;REN57440;REN57441;REN57442;REN57443;REN57444;REN57445;REN57446;REN57447;REN57448;REN57449;REN57450;REN57451;REN57452;REN57453;REN57454;REN57455;REN57456;REN57457;REN57458;REN57459;REN57460;REN57461;REN57462;REN57463;REN57464;REN57465;REN57466;REN57467;REN57468;REN57469;REN57470;REN57471;REN57472;REN57473;REN57474;REN57475;REN57476;REN57477;REN57478;REN57479;REN57480;REN57481;REN57482;REN57483;REN57484;REN57485;REN57486;REN57487;REN57488;REN57489;REN57490;REN57491;REN57492;REN57493;REN57494;REN57495;REN57496;REN57497;REN57498;REN57499;REN57500;REN57501;REN57502;REN57503;REN57504;REN57505;REN57506;REN57507;REN57508;REN57509;REN57510;REN57511;REN57512;REN57513;REN57514;REN57515;REN57516;REN57517;REN57518;REN57519;REN57520;REN57521;REN57522;REN57523;REN57524;REN57525;REN57526;REN57527;REN57528;REN57529;REN57530;REN57531;REN57532;REN57533;REN57534;REN57535;REN57536;REN57537;REN57538;REN57539;REN57540;REN57541;REN57542;REN57543;REN57544;REN57545;REN57546;REN57547;REN57548;REN57549;REN57550;REN57551;REN57552;REN57553;REN57554;REN57555;REN57556;REN57557;REN57558;REN57559;REN57560;REN57561;REN57562;REN57563;REN57564;REN57565;REN57566;REN57567;REN57568;REN57569;REN57570;REN57571;REN57572;REN57573;REN57574;REN57575;REN57576;REN57577;REN57578;REN57579;REN57580;REN57581;REN57582;REN57583;REN57584;REN57585;REN57586;REN57587;REN57588;REN57589;REN57590;REN57591;REN57592;REN57593;REN57594;REN57595;REN57596;REN57597;REN57598;REN57599;REN57600;REN57601;REN57602;REN57603;REN57604;REN57605;REN57606;REN57607;REN57608;REN57609;REN57610;REN57611;REN57612;REN57613;REN57614;REN57615;REN57616;REN57617;REN57618;REN57619;REN57620;REN57621;REN57622;REN57623;REN57624;REN57625;REN57626;REN57627;REN57628;REN57629;REN57630;REN57631;REN57632;REN57633;REN57634;REN57635;REN57636;REN57637;REN57638;REN57639;REN57640;REN57641;REN57642;REN57643;RH48687;RH66526;RH78871;RH80003;SHGC-111105;SHGC-81477;STS-N35090;stSG636522;stSG636523;stSG636524;stSG636525;stSG636526;stSG636527;stSG636529;stSG636530;stSG636531;stSG636532;stSG636533;stSG636534;stSG636535;stSG636536;stSG636537;stSG636538;stSG636539;stSG636540;stSG636541;stSG636542;stSG636543;stSG636544;stSG636545;stSG636546;stSG636547;stSG636548;stSG636549;stSG636550;stSG636552;stSG636553;stSG636554;stSG636555;stSG636556;stSG636557;stSG636558;stSG636560;stSG636561;stSG636562;stSG636563;stSG636564;stSG636565;stSG636566;stSG636567;stSG636568;stSG636569;stSG636570;stSG636571;stSG636572;stSG636573;stSG636574;stSG636575;stSG636576;stSG636577;stSG636578;stSG636579;stSG636580;stSG636581;stSG636582;stSG636583;stSG636584;stSG636585;stSG636586;stSG636587;stSG636588;stSG636589;stSG636590;stSG636591;stSG636592;stSG636593;stSG636594;stSG636595;stSG636596;stSG636597;stSG636598;stSG636599;stSG636600;stSG636601;stSG636602;stSG636603 BFZB;C20orf44;CBP3;MGC104353;MGC141902;UQCC OTTHUMP00000030744;OTTHUMP00000030746;OTTHUMP00000030747;OTTHUMP00000030748;OTTHUMP00000030750;OTTHUMP00000061641;OTTHUMP00000061642;OTTHUMP00000194710;bFGF-repressed Zic-binding protein;basic FGF-repressed Zic-binding protein;cytochrome B protein synthesis 3 homolog;ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog;ubiquinol-cytochrome-c reductase complex assembly factor 1 APPROVED protein-coding ENSG00000101019 HGNC:15891 12770 611797 REVIEWED 7373697 URGCP-MRPS24 URGCP-MRPS24 readthrough This locus represents naturally occurring read-through transcription between the neighboring URGCP (upregulator of cell proliferation) and MRPS24 (mitochondrial ribosomal protein S24) genes on chromosome 7. The read-through transcript is predicted to encode a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011] 7 7 p13 43906157 43946231 - 43866558 43906632 - 8554872 20967262;23251661;9847074 100534592 S4R325 ABBA01058197;AC004985;AI027170;AMYH02015612;AMYH02015613;FY210844;FY212401;KF458454;NM_001204871 NP_001191800 Hs.663312 1683952;1774321;2148849 D7S2778;D7S2880;RH98238 uncharacterized protein LOC100534592 protein-coding ENSG00000270617 HGNC:49188 VALIDATED 1346688 URB2 URB2 ribosome biogenesis 2 homolog (S. cerevisiae) ASSOCIATED WITH Melanoma (inferred); FOUND IN aggresome; nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; aflatoxin B1; atrazine 1 1 1 q42.13 203029860 203063824 + 229761981 229795946 + 229626234 229660199 + 737633;1580863;6480464;8554872 12477932 11790298;15265697;15635413;18029348;21139048;21890473;21906983;21963094;21987572;22505724;22586326;23620142;23824909;24483146;8590280 9816 Q14146;Q5VYD0 ABBA01009828;AK291013;AL121990;AL354983;AMYH02002873;AMYH02002874;BC059381;BC114559;BC114963;CH471098;CQ834432;D50923;NM_014777;XM_005273360 AAH59381;AAI14560;AAI14964;BAA09482;BAF83702;CAH05431;EAW69904;EAW69905;NP_055592;Q14146;XP_005273417 Hs.533628 1688857;1692706;1769885 AL034106;RH25356;SHGC-37646 KIAA0133;MGC138837;MGC138838;NET10;NPA2 OTTHUMP00000037473;nucleolar preribosomal-associated protein 1;unhealthy ribosome biogenesis protein 2 homolog protein-coding ENSG00000135763 HGNC:28967 17178 PROVISIONAL 1315307 URM1 ubiquitin related modifier 1 ENCODES a protein that exhibits sulfurtransferase activity; INVOLVED IN tRNA thio-modification; tRNA wobble uridine modification; FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q34.11 101784501 101803918 + 131133598 131154295 + 128371319 128392016 + 737633;6480464 12477932 14702039;15164053;15489334;16046629;16169070;16344560;16864801;18491921;19017811;21139048;21209336;21245332;22939629 81605 Q5T4A9;Q9BTM9 ABBA01043877;AI872337;AK001880;AK097029;AK300877;AL359091;AMYH02021712;AMYH02021713;BC003581;BC011620;BI823604;CH471090;D83200;DA691216;HG502453;NM_001135947;NM_001265582;NM_030914;NR_049743 AAH03581;BAG50985;BAG62520;EAW87782;EAW87783;EAW87784;EAW87785;EAW87786;NP_001129419;NP_001252511;NP_112176;Q9BTM9 Hs.495229 1677979;1772152;2129059 RH41877;RH78079;RH80307 C9orf74;MGC2668;RP11-339B21.11;RP11-339B21.4 OTTHUMP00000022258;OTTHUMP00000022259;chromosome 9 open reading frame 74;ubiquitin related modifier 1 homolog;ubiquitin-related modifier 1;ubiquitin-related modifier 1 homolog APPROVED protein-coding ENSG00000167118 HGNC:28378 12976 612693 VALIDATED 1321217 URI1 URI1, prefoldin-like chaperone This gene encodes member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though interactions with the RNA polymerase II subunit RPB5. This gene may play a role in multiple malignancies including ovarian cancer and hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. [provided by RefSeq, Nov 2011] 19 19 19 q12 27127113 27200278 + 30414551 30507519 + 29923644 30016612 + 6480464;8554872 11827465;12477932;12737519;14615539;14702039;15367675;16055720;17081983;17643375;17936702;19450687;19875381;20195357;20371770;20379614;21310960;21397856;21730289;21832049;21890473;24228101;24250222;24816145;25036637;9819440;9878255 8725 I3L0K5;I3L104;I3L130;I3L280;I3L2V7;I3L467;I3NI51;K7EQZ9;O94763 AA678820;ABBA01039559;ABBA01039560;AC008507;AF091095;AK001437;AK226173;AK292170;AK314313;AMYH02035890;AMYH02035891;AMYH02035892;AMYH02035893;AW003989;AW954529;BC014933;BC026184;BC067259;BG742069;DB461036;NM_001252641;NM_003796;NR_045557;XM_005259362;XM_005259363 AAD08679;AAH14933;AAH26184;AAH67259;BAF84859;BAG50914;NP_001239570;NP_003787;O94763;XP_005259419;XP_005259420 Hs.466391 1652541;1653293;1690364;1770399;1791131;1854027;2183673 RH12894;RH45535;SGC30870;SHGC-30736;STS-R63092;STS-Z41049;px-16e8 C19orf2;FLJ10575;NNX3;PPP1R19;RMP;URI RNA polymerase II subunit 5-mediating protein;RNA polymerase II, subunit 5-mediating protein;RPB5-mediating protein;protein phosphatase 1 regulatory subunit 19;protein phosphatase 1, regulatory subunit 19;unconventional prefoldin RPB5 interactor;unconventional prefoldin RPB5 interactor 1 APPROVED protein-coding ENSG00000105176 HGNC:13236 11943 603494 REVIEWED 1347314 UROC1 urocanate hydratase 1 This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 3 3 3 q21.3 124624832 124661450 - 126200008 126236616 - 126481165 126517773 - 6480464;6907045;7240710;8554872;8699517 12477932;14702039;15221005;15489334;16344560;19304569;21110914;6107814;7944380 131669 Q96N76 AB075869;ABBA01016389;ABBA01016390;ABBA01016391;AC024558;AK055862;AMYH02007586;AMYH02007587;AMYH02007588;BC115405;BC115406;BX108463;CH471052;DA638082;NG_016286;NM_001165974;NM_144639 AAI15406;AAI15407;BAB71032;BAD38651;EAW79360;NP_001159446;NP_653240;Q96N76 Hs.331148 2122986 SHGC-37132 FLJ31300;HMFN0320;MGC135007;MGC135008 OTTHUMP00000222633;OTTHUMP00000222634;imidazolonepropionate hydrolase;urocanase 1;urocanase domain containing 1;urocanate hydratase APPROVED protein-coding ENSG00000159650 HGNC:26444 08712 276880;613012 REVIEWED 1353651 URB1 URB1 ribosome biogenesis 1 homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; INTERACTS WITH 17beta-estradiol; paracetamol (ortholog); thioacetamide (ortholog) 21 21 21 q22.11 18866931 18948939 - 33683330 33765312 - 32311019 32393003 - 6480464;8554872 10773462;12168954;12429849;12477932;14637006;15226434;16196087;16963496;17081983;17474147;18029348;20360068;21139048;21890473;21900206;21906983;21963094;22505724;22586326;24639526;24816145;9628581 9875 O60287 AB011111;ABBA01057313;AF231919;AF432264;AMYH02037722;AP000266;AP000267;AP000268;AP000269;BC041033;BC062356;CH471079;KF457216;KF511386;KF511388;NM_014825 AAF72943;AAL28110;BAA25465;EAX09876;EAX09877;NP_055640;O60287 Hs.473611 1656879;1730642;1799574;1806692;1808654;1809148;1809888;1810336;1811864;1812862;1813162;1814040;1814472;1818284;1819006;1819638;1833740;1833994;1836332;1837554;1838198;1839996;1853658;2019562;2019564;2019566;2019568;2019570;2019572;2019574;2019576;2019578;2019580;2019582;2019584;2019586;2019588;2019590;2019592;2019594;2019596;2019598;2019600;2019602;2019604;2019606;2019608;2019610;2019612;2019614;2019616;2019618;2019620;2019622;2019624;2019626;2019628;2019630;2019632;2019634;2019636;2019638;2019640;2019642;2019644;2019646;2019648;2019650;2019652;2019654;2019656;2019658;2019660;2019662;2019664;2019666;2019668;2019670;2019672;2019674;2019676;2019678;2019680;2019682;2019684;2019686;2019688;2019690;2019692;2019694;2019696;2019698;2019700;2019702;2019704;2019706;2019708;2019710;2019712;2019714;2019716;2019718;2019720;2019722;2019724;2019726;2019728;2019730;2019732;2019734;2019736;2099750;2099752;2099754;2099756;2099758;2099760;2099762;2099764;2099766;2099768;2099770;2099772;2099774;7184737 D21S314;ECD00639;ECD04303;ECD05309;ECD05563;ECD05936;ECD06160;ECD06936;ECD07444;ECD07600;ECD08047;ECD08266;ECD10199;ECD10568;ECD10886;ECD18015;ECD18144;ECD19328;ECD19944;ECD20271;ECD21182;REN80729;REN80730;REN80731;REN80732;REN80733;REN80734;REN80735;REN80736;REN80737;REN80738;REN80739;REN80740;REN80741;REN80742;REN80743;REN80744;REN80745;REN80746;REN80747;REN80748;REN80749;REN80750;REN80751;REN80752;REN80753;REN80754;REN80755;REN80756;REN80757;REN80758;REN80759;REN80760;REN80761;REN80762;REN80763;REN80764;REN80765;REN80766;REN80767;REN80768;REN80769;REN80770;REN80771;REN80772;REN80773;REN80774;REN80775;REN80776;REN80777;REN80778;REN80779;REN80780;REN80781;REN80782;REN80783;REN80784;REN80785;REN80786;REN80787;REN80788;REN80789;REN80790;REN80791;REN80792;REN80793;REN80794;REN80795;REN80796;REN80797;REN80798;REN80799;REN80800;REN80801;REN80802;REN80803;REN80804;REN80805;REN80806;REN80807;REN80808;REN80809;REN80810;REN80811;REN80812;REN80813;REN80814;REN80815;REN80816;SHGC-57897;SHGC-87585;stSG606350;stSG606351;stSG606352;stSG606353;stSG606354;stSG606355;stSG606356;stSG606357;stSG606358;stSG606359;stSG606360;stSG606361;stSG606362 C21orf108;KIAA0539;NPA1 OTTHUMP00000067386;nucleolar pre-ribosomal-associated protein 1;nucleolar preribosomal-associated protein 1;nucleolar protein 254 kDa protein-coding ENSG00000142207 HGNC:17344 608865 VALIDATED 1351123 UROD uroporphyrinogen decarboxylase This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010] 1 1 1 p34 43760589 43764125 + 45477805 45481341 + 45012133 45015669 + 1599713;1580863;1578396;2301374;4144542;4144182;4145077;4144806;4145290;2303399;6480464;6907045;7240710;8554872;8699517 10416273;12426626;16839620;2276414;2920211;3271868;661926;6721832 10338097;10477430;11069625;11295834;11719352;12071824;12477932;15046048;15186324;15489334;15491440;1634232;16390615;16710414;17623298;17627795;18004775;18029348;1905636;19419417;19656450;20029029;20479301;20553007;21079081;21139048;21900206;21963094;22382040;2243121;22863883;22939629;23140436;23209648;23545314;23741761;23824909;24175354;24654937;24816145;3015909;3460962;3658695;3775362;7706766;8125298;8176248;8644733;8896428;9564029;9792863;9806541 7389 H0Y5R6;P06132;Q5T446 ABBA01050894;AF047383;AF103016;AF103017;AF104421;AF104422;AF104423;AF104424;AF104425;AF104426;AF104427;AF104428;AF104429;AF104430;AF104431;AF104432;AF104433;AF104434;AF104435;AF104436;AF104437;AF104438;AF104439;AF104440;AK225053;AK291877;AK293702;AK295284;AK308996;AK309446;AK309724;AK310208;AK315878;AL359473;AMYH02000921;AY292986;BC001778;BM554255;BT006737;BX647308;CH471059;CR456976;CR542057;DB462002;M14016;M60891;NG_007122;NG_033058;NM_000374;NR_036510;U30787;X89267;XM_005271169;XM_005271170 AAA61258;AAB59456;AAC03563;AAC50482;AAD04167;AAD04168;AAD04571;AAD04572;AAD04573;AAD04574;AAD04575;AAD04576;AAD04577;AAD04578;AAD04579;AAD04580;AAD04581;AAD04582;AAD04583;AAD04584;AAD04585;AAD04586;AAD04587;AAD04588;AAD04589;AAD04590;AAH01778;AAP35383;AAP44118;ABM81614;ABM84796;BAF84566;BAF98769;BAG57136;BAG58268;CAA61540;CAG33257;CAG46854;EAX07007;EAX07008;NP_000365;P06132;XP_005271226;XP_005271227 Hs.78601 1857716;2144759;2150953;2189469;2191101 MARC_14579-14580:1009487818:7;MARC_6909-6910:992007560:1;RH78894;SHGC-74688;WI-18590 PCT;UPD;URO-D OTTHUMP00000010502;OTTHUMP00000010503;fifth enzyme of heme biosynthetic pathway;fifth enzyme of the heme biosynthetic pathway;uroporphyrinogen III decarboxylase APPROVED protein-coding ENSG00000126088 HGNC:12591 01441 176100;613521 REVIEWED 2306325 USF1P1 upstream transcription factor 1 pseudogene 1 21 21 21 q22.11 19897005 19897492 + 34706919 34707406 + 33334613 33335100 + 100151645 ABBA01057338;AMYH02037735;AP000112;AP000188;AP000297;NG_007657 1827720;2027660;2027662;2027664;2027666;2027668;2027670;2027672;2027674;2027676;2027678;2027680 ECD14982;REN84834;REN84835;REN84836;REN84837;REN84838;REN84839;REN84840;REN84841;REN84842;REN84843;REN84844 USF1P APPROVED pseudo HGNC:23773 INFERRED 1603634 USE1 unconventional SNARE in the ER 1 homolog (S. cerevisiae) INVOLVED IN lysosomal transport (ortholog); protein catabolic process (ortholog); secretion by cell (ortholog); FOUND IN endoplasmic reticulum; INTERACTS WITH elemental selenium; selenium atom; thapsigargin 19 19 19 p13.11 17227674 17232159 + 17326155 17330638 + 17215346 17219829 + 6480464 11076863;12477932;12761501;14702039;15029241;15272311;15489334;15489336;16189514;16344560;16354670;16381901;18854154;19369418;20975683;21139048;21832049;21906983;24528925 55850 G8JLK1;M0QYT5;M0QZE0;M0QZZ6;Q9NZ43 AB097050;ABBA01051186;AC020913;AF220052;AK074683;AMYH02035697;BC006005;BC008455;BF448659;BI758045;CH471106;DA506853;NM_018467;T86451 AAF67645;AAH06005;AAH08455;ABZ92350;BAC11136;BAC77403;CAL38678;EAW84574;EAW84575;EAW84576;NP_060937;Q9NZ43 Hs.16187 2153961;5022578;5037552 D1S1423;D8S2279;WI-11338 MDS032;P31;Q-SNARE;SLT1 SNARE-like tail-anchored protein 1 homolog;USE1-like protein;putative MAPK activating protein PM26;putative MAPK-activating protein PM26;vesicle transport protein USE1 protein-coding ENSG00000053501 HGNC:30882 11299 610675 VALIDATED 1606230 USB1 U6 snRNA biogenesis 1 This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011] 16 16 16 q21 42532629 42552834 + 58033450 58055527 + 57999605 58021623 + 6480464;8554872;8699517 10737800;12477932;14702039;15231748;15489334;16344560;19322201;20004881;20503306;20618321;20734427;20817924;21271650;21497268;21872685;21967010;22269211;22899009;23022480;23190533;23684637 79650 H3BN52;H3BNM8;H3BTS1;H3BTT8;Q9BQ65 ABBA01025289;ABBA01025290;AC010543;AC012182;AK023216;AK126223;AK293220;AK298473;AK301494;AK303121;AMYH02032112;BC004415;BC006291;BC007774;BC010099;BC021554;BF733890;BI910866;BM193105;BQ223186;BX117268;CH471092;DB364698;DB382938;DC363309;DC380401;NG_027698;NM_001195302;NM_001204911;NM_024598;XM_005256144 AAH04415;AAH06291;AAH07774;AAH10099;AAH21554;ADZ15885;BAB14469;BAG56759;BAG60684;BAG63005;BAG64227;EAW82962;EAW82963;EAW82964;NP_001182231;NP_001191840;NP_078874;Q9BQ65;XP_005256201 Hs.408702 1771371 SHGC-61346 C16orf57;FLJ13154;HVSL1;Mpn1;PN;hUsb1 HVSL motif containing 1;OTTHUMP00000164660;U six biogenesis 1;U6 snRNA phosphodiesterase;UPF0406 protein C16orf57;hypothetical protein LOC79650;mutated in poikiloderma with neutropenia protein 1;putative U6 snRNA phosphodiesterase APPROVED protein-coding ENSG00000103005 HGNC:25792 07815 613276 VALIDATED 733910 USF1 upstream transcription factor 1 This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013] 1 1 1 q22-q23 134076312 134083021 - 161009041 161015769 - 161039251 161045979 - 1580805;2313793;2313794;2313792;6480464;7240710;8554872 16186412;16699592;18445538;18593823 11076863;11230166;11256614;11945176;11948912;12403649;12444925;12477932;12611894;12663044;12684442;12791656;12851711;12857727;12917334;12923186;12970752;14514691;14573800;14644095;14991056;15014447;15054483;15111769;15175273;15187018;15242350;15342556;15358760;15358786;15489334;15489336;15767439;15864740;15959806;15976322;15985485;16076849;16132950;16195385;16199862;16225938;16288473;16381901;16386222;16531745;16870626;16936202;16943425;17016691;17065663;17309647;17353931;17379962;17574780;17673701;17765897;17823260;17846119;17885212;17970752;18070436;18097648;18165439;18167349;18230803;18234320;18276913;18303204;18307922;18577828;18660489;18758746;18802024;18817855;18845576;18974842;19087304;19303849;19322201;19389701;19533890;1961251;19720831;19730683;19750004;19910639;19913121;19995791;20031629;20054229;20180799;20628086;20682687;21139048;21653943;21693764;21813151;21832049;21873430;21890473;22242598;22258560;22291606;22390463;22460558;2249772;22891280;23128233;23181698;23271305;23754954;23824909;24042129;24173679;24250222;24661879;7774954;7852331;8306960;8486371;8576131;9050988;9053857;9160889;9384587;9537421 7391 B1AQP1;E9PJ52;E9PME6;E9PQA2;H0YD59;P22415 AB017568;AB098540;ABBA01016602;AK314876;AL591806;AL832119;AMYH02002030;AMYH02002031;AY593992;BC035505;BP280296;CH471121;NG_011612;NM_001276373;NM_007122;NM_207005;X55666 AAH35505;AAS89301;BAA76541;BAC78384;BAG37391;CAA39201;CAL37633;CAL38711;EAW52675;EAW52676;NP_001263302;NP_009053;NP_996888;P22415 Hs.414880 1827720;2129450;2177510;5014053;5491641 D1S3693;ECD14982;MARC_4129-4130:996679399:1;RH36021;STS-W72330 FCHL;FCHL1;HYPLIP1;MLTF;MLTFI;UEF;bHLHb11 OTTHUMP00000029691;OTTHUMP00000029693;OTTHUMP00000029695;OTTHUMP00000228974;class B basic helix-loop-helix protein 11;major late transcription factor 1;upstream stimulatory factor 1 APPROVED protein-coding ENSG00000158773 HGNC:12593 01880 191523;602491 REVIEWED 3476305 UQCRHP3 ubiquinol-cytochrome c reductase hinge protein pseudogene 3 10 10 10 q11.21 40231299 40231724 + 44227723 44228148 + 43732275 43732700 + 100131995 ABBA01050012;AL355989;AMYH02022716;NG_022997 pseudo HGNC:38046 INFERRED 1353597 USH1A Usher syndrome 1A (autosomal recessive, severe) ASSOCIATED WITH Usher syndrome, type 1B (inferred) 7240710 7393 1337966;1339492 D14S250;D14S78 HGNC:12595 276900 734370 USF2 upstream transcription factor 2, c-fos interacting This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13 32473334 32484156 + 35759896 35770724 + 35268993 35279815 + 1580863;6480464 10434034;11058604;11583024;11945176;11948912;12477932;12611894;12663044;12791656;12857727;12917334;12970752;14502648;1450663;15014447;15042619;15057824;15187018;15242350;15276216;15358760;15489334;15741164;15767439;15864740;1589769;16199862;16386222;16870626;16943425;17081983;17353931;17379962;17823260;17846119;18165439;18167349;18817855;18845576;18970934;19074828;19087304;19089909;19505873;19730683;19846536;20180799;20626032;20814220;20936779;21139048;21653943;21813151;21890473;21921026;22891280;22966206;23560079;23991099;24816145;7852331;8576131;8619474;8954795;9053857;9070273;9099698;9108421;9110174 7392 B4DLJ1;M0QXT0;M0QY46;M0QYU7;M0QZ39;M0R1C6;Q15853;V9GYR5 ABBA01018738;AD000684;AK297022;AMYH02035982;AY007087;AY147880;BC042655;BC049821;CR536504;M77476;NG_029241;NM_003367;NM_207291;S50537;X90824;X90825;X90826;XM_005259197;Y07661 AAB24368;AAB51179;AAH49821;AAN63092;BAG59553;CAA62339;CAA62340;CAA62341;CAA68942;CAG38742;NP_003358;NP_997174;Q15853;XP_005259254 Hs.454534 1678341;1716745;1851955;2135743;2153357;5111413 RH121665;RH68134;RH75657;STS-N20344;STS-S50537;STS-X90824 FIP;bHLHb12 FOS-interacting protein;c-fos interacting protein;class B basic helix-loop-helix protein 12;major late transcription factor 2;upstream stimulatory factor 2 APPROVED protein-coding ENSG00000105698 HGNC:12594 02668 600390 REVIEWED 1351921 USH1E Usher syndrome 1E (autosomal recessive, severe) ASSOCIATED WITH Usher syndrome, type 1E (inferred) 7240710 9002666 7396 1335694;1338195 D21S1905;D21S1913 HGNC:12599 602097 1312053 USH1G Usher syndrome 1G (autosomal recessive) This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 17 17 17 q25.1 69505403 69512577 - 72912176 72919351 - 74916084 74923263 - 1599547;6480464;7240710;8547671;8547536;8554872;8699517 12588794;20212494;22177415 11398101;11941484;12477932;12786748;14702039;15489334;15660226;16283141;17896313;18484607;19028668;19683999;20142502;20301442;20801516;21044053;21311020;21767579;22219650;22876113;23704327;24618850 124590 A8K189;B4DL95;J3KSN5;Q495M9 ABBA01028822;ABBA01028823;AC068874;AC087651;AK091243;AK289804;AK296899;AMYH02033981;BC101096;BC101097;BC101098;BC101099;CH471099;DC403891;NG_007882;NM_001282489;NM_173477 AAI01097;AAI01098;AAI01099;AAI01100;BAC03619;BAF82493;BAG59457;EAW89212;NP_001269418;NP_775748;Q495M9 Hs.376688 1339436;1340599 D17S1806;D17S1830 ANKS4A;FLJ33924;SANS Usher syndrome type-1G protein;scaffold protein containing ankyrin repeats and SAM domain APPROVED protein-coding ENSG00000182040 HGNC:16356 09648 606943;607696 REVIEWED 1349709 USH2B Usher syndrome 2B (autosomal recessive, mild) 10234513;7901420 7400 HGNC:12602 1604645 USH1C Usher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 11 11 11 p14.3 17645289 17695946 - 17515442 17565963 - 17493895 17544416 - 6480464;7240710;8547667;1600453;8547671;8547536;8554872;8695921;8695932;8695919;8695918;8699517;8695939;8695937;8694457;8694458;8694454 10973247;11139240;12136232;14519688;17407589;19804752;20095043;20211154;20212494;21487335;22177415;23251578;23380860 10209257;10500064;10508479;10973248;11311560;11398101;11810303;12107438;12407180;12477932;12485990;12588794;12665801;14759258;15219944;15461667;15489334;15578223;15660226;16301216;16464467;16713569;18484607;19297620;19683999;20142502;20301442;20301607;20379614;20801516;21203349;22219650;22661463;22879593;22939629;24618850;8125298;9610721;9653658;9760205 10083 E9PNW1;Q9Y6N9 AB006955;AB018687;ABBA01061063;ABBA01061064;AC124799;AF039699;AF039700;AK024943;AK225614;AK290788;AK300936;AL711953;AMYH02024384;BC016057;BK000147;CH471064;KF455327;NG_011883;NM_001297764;NM_005709;NM_153676;NR_123738;XM_005252725;XM_006718119 AAC18048;AAC18049;AAH16057;ADZ15444;BAA81739;BAA81740;BAB15040;BAF83477;BAG62565;DAA00086;EAW68431;EAW68432;EAW68433;EAW68434;NP_001284693;NP_005700;NP_710142;Q9Y6N9;XP_005252782;XP_006718182 Hs.502072 1721889;5094178 G54591;G59975 AIE-75;DFNB18;DFNB18A;NY-CO-37;NY-CO-38;PDZ-45;PDZ-73;PDZ-73/NY-CO-38;PDZ73;PDZD7C;ush1cpst OTTHUMP00000232612;OTTHUMP00000232613;OTTHUMP00000232614;OTTHUMP00000232615;OTTHUMP00000232616;antigen NY-CO-38/NY-CO-37;autoimmune enteropathy-related antigen AIE-75;harmonin;renal carcinoma antigen NY-REN-3;usher syndrome type-1C protein APPROVED protein-coding ENSG00000006611 HGNC:12597 09241 276904;602092;605242 REVIEWED 1346492 USH2C Usher syndrome 2C (autosomal recessive) ASSOCIATED WITH Febrile Convulsions, Familial, 4 (inferred); Usher syndrome, type 2C (inferred) 7240710 10745043 56830 HGNC:12603 604352;605472 1342890 USH3B Usher syndrome 3B ASSOCIATED WITH USHER SYNDROME, TYPE IIIB (inferred) 7240710 23662 HGNC:12606 614504 2923065 USMG5P1 USMG5 pseudogene 1 X X X q13.2 73677196 73677469 + 73393696 73394025 + 74173861 74174190 + 100288307 ABBA01059596;AMYH02039775;CH471104;NG_012722;Z83843 EAW98657 APPROVED pseudo HGNC:31716 INFERRED 736503 USH2A Usher syndrome 2A (autosomal recessive, mild) This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 1 1 1 q41 189020056 189820422 - 215796236 216596738 - 215622894 216423396 - 634438;6480464;7240710;8547669;8547962;8547961;8548458;8547967;8694137;8547966;8547963;8547965;8547535;8547987;8547985;8547952;8547956;8547954;8554872;8699517 10729113;10775529;12112664;12160733;15025721;17360538;17405132;18452394;18665195;20309401;20507924;20624897;22009552;23701314;23767834;9624053 10090909;10738000;10909849;11311042;11402400;11788194;12427073;12433396;12525556;12786748;14676276;14970843;15015129;15241801;15325563;15671307;15823922;16098008;16114888;16301216;16301217;16434480;16545802;16710414;16767206;17081983;17085681;17296898;18273898;18463160;18484607;18519826;18641288;19023448;19129697;19683999;19737284;19881469;19913121;20145675;20301515;20301590;20379614;20591486;20628086;20801516;21593743;21686329;22004887;22147658;22159486;22563300;22876132;22990118;23382691;23737954;23924366;23940504;24227914;24607488;24618850;276901 7399 O75445 AA883599;AADB02001158;ABBA01048123;ABBA01048124;ABBA01048125;ABBA01048126;ABBA01048127;ABBA01048128;ABBA01048129;ABBA01048130;AC092799;AC093581;AC119429;AC138024;AF055580;AF091889;AL139259;AL358452;AL358858;AL445650;AL513305;AMYH02002678;AMYH02002679;AMYH02002680;AMYH02002681;AMYH02002682;AMYH02002683;AMYH02002684;AMYH02002685;AY481573;NG_009497;NM_007123;NM_206933 AAC23748;AAF75819;AAS47698;NP_009054;NP_996816;O75445 Hs.655974 1336542;1654303;1667161;1686474;1691820;1692472;1692762;1692974;1703820;1711010;1715223;1725155;1726381;1727337;1752951;1754281;1760947;1769005;1775344;1781430;1781714;2114338;2128556;2131888;2134890;2142314;2155891;2158087;2172556;2181389 143XF10;AFM248tc1;AFM268zd1;AL009286;AL009345;AL009491;AL009851;AL009855;AL010107;AL033887;AL033963;AL034147;AL034204;D1S2086;D1S2171;D1S2435;D1S2827;G62491;G63076;RH118881;RH119862;RH79627;SHGC-106817;SHGC-111484;SHGC-132295;SHGC-144902;SHGC-155213;SHGC-76355;SHGC-78958;SHGC-84884 RP39;US2;USH2;dJ1111A8.1 OTTHUMP00000035145;OTTHUMP00000063383;Usherin;usher syndrome type IIa protein;usher syndrome type-2A protein APPROVED protein-coding ENSG00000042781 HGNC:12601 02042;09759 276901;608400;613809 REVIEWED 1321278 UROS uroporphyrinogen III synthase The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008] 10 10 10 q25.2-q26.3 121252582 121287272 - 127474091 127511837 - 125785522 125823268 - 1599715;1580863;1578396;4144823;4144822;4144542;6480464;6907045;7240710;8554872;8699517 16839620;2331520;3327431;925603 11112350;11121156;11254675;11689424;12060141;12477932;15164054;15304101;15489334;16713569;17298225;1733834;1737856;18004775;19021769;19099412;19965637;2037278;21145461;21343304;21570665;22350154;24027798;24250222;3174619;3792391;3805019;7607680;7616657;7860775;8655129;8829650;9188670;9803266;9834209 7390 P10746;Q5T3L7;Q5T3L8;Q5T3L9 ABBA01034170;AF230665;AK314896;AL360176;AMYH02023996;AMYH02023997;BC002573;BC004338;CH471066;DR156879;J03824;NG_011557;NM_000375;XM_005270137;XM_005270138;XM_005270139;XM_005270140;XM_005270141;XM_006717960;XR_246103 AAA60273;AAG36795;AAH02573;AAH04338;ABM82862;ABM86049;BAG37410;EAW49221;EAW49222;EAW49223;EAW49224;EAW49225;EAW49226;EAW49227;EAW49228;EAW49229;NP_000366;P10746;XP_005270194;XP_005270195;XP_005270196;XP_005270197;XP_005270198;XP_006718023 Hs.501376 1666998;1701240;1736148;1743171;2108635 D10S1316E;D10S1401E;GDB:280629;RH104248;UROS_8710 UROIIIS OTTHUMP00000020709;OTTHUMP00000020710;OTTHUMP00000020712;hydroxymethylbilane hydrolyase;uroporphyrinogen-III cosynthase;uroporphyrinogen-III synthase APPROVED protein-coding ENSG00000188690 HGNC:12592 06087 263700;606938 REVIEWED 1347198 USMG5 up-regulated during skeletal muscle growth 5 homolog (mouse) FOUND IN extracellular vesicular exosome; mitochondrial proton-transporting ATP synthase complex (ortholog); INTERACTS WITH 17beta-estradiol; hydrogen peroxide; phenobarbital 10 10 10 q24.33 98888747 98896156 - 105148807 105156270 - 103389050 103396513 - 737633;1580863;6480464 12477932 15146197;15164054;15489334;16222733;16713569;18781797;21345788;21890473;22505724;22688299;23246001;23974872;24457600;24816145 84833 Q96IX5 ABBA01063100;AI479343;AJ272056;AK311888;AL110185;AL591408;AMYH02023724;AY740522;BC007087;BC072683;BC091507;CH471066;CN367000;DW446355;NM_001206426;NM_001206427;NM_032747 AAH07087;AAH72683;AAH91507;AAU89079;BAG34829;CAC81243;EAW49642;EAW49643;EAW49644;NP_001193355;NP_001193356;NP_116136;Q96IX5 Hs.500921;Hs.732499 1659364;5106471 RH47040;RH78847 DKFZp566D211;HCVFTP2;MGC14697;bA792D24.4 DAPIT;HCV F-transactivated protein 2;OTTHUMP00000020397;OTTHUMP00000020398;OTTHUMP00000020399;OTTHUMP00000020400;OTTHUMP00000020401;diabetes-associated protein in insulin-sensitive tissues;up-regulated during skeletal muscle growth protein 5;upregulated during skeletal muscle growth 5;upregulated during skeletal muscle growth 5 homolog protein-coding ENSG00000173915 HGNC:30889 18277 615204 VALIDATED 733099 USO1 USO1 vesicle transport factor The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 4 4 4 q21.1 73946229 74035768 + 76649829 76735366 + 75724587 75814213 + 6480464;6484113 10903204;10931861;11035033;11076863;11230166;11396975;11927603;12077354;12401177;12438416;12477932;12507498;12634853;14702039;14736916;1512287;15489334;15489336;15718469;15979508;16051665;16189514;16256943;16381901;16473624;17081983;17274799;17353931;18434597;19028683;19247479;19454686;19946888;20126549;20209057;21139048;21147777;21536679;21890473;21903422;21906983;22792062;22797925;22939629;23000965;23862649;23874603;24250222;24379579;24816145;25027693;9150144;9478999;9628863;9786945 8615 F5H4X1;H0Y7C0;O60763;S4R3X6 ABBA01063347;ABBA01063348;ABBA01063349;ABBA01063350;AC104828;AC110615;AEKP01043041;AK002093;AK314289;AL832010;AL833753;AMYH02009493;AMYH02009494;AMYH02009495;AMYH02009496;AMYH02009497;AMYH02009498;AW043712;BC006398;BC016672;BC032654;CH471057;D86326;DA107349;HY008203;NM_001290049;NM_003715;XM_006714395;XM_006714396;XM_006714397 AAH06398;AAH32654;ABM84992;ABW03646;BAA25300;BAG36947;CAD89917;CAL37824;CAL38366;EAX05749;EAX05750;EAX05751;NP_001276978;NP_003706;O60763;XP_006714458;XP_006714459;XP_006714460 Hs.744877 1647473;1648171;1665370;1665372;1846316;2043942;2043944;2122172 A001V03;ECD24378;G19677;REN93022;REN93023;RH46891;SHGC-36721;SHGC4-1677 P115;TAP;VDP OTTHUMP00000221102;OTTHUMP00000237572;USO1 homolog, vesicle docking protein;USO1 vesicle docking protein homolog;general vesicular transport factor p115;protein USO1 homolog;transcytosis associated protein;vesicle docking protein p115;vesicle docking protein, 115 kda;vesicle-docking protein APPROVED protein-coding ENSG00000138768 HGNC:30904 09135 603344 REVIEWED 1604853 USP10P2 ubiquitin specific peptidase10 pseudogene 2 14 14 14 q11.1 1 1096 + 19410589 19413792 - 18634112 18637315 - 780778 AMYH02028780;CR383656;NG_005812 pseudo HGNC:33272 INFERRED 1348071 USP10P1 ubiquitin specific peptidase 10 pseudogene 1 14 14 q11.2 20145909 20149106 + 19677750 19680947 + 780779 AL512310;AMYH02028807;NG_005813 ubiquitin specific protease 10 pseudogene 1 pseudo HGNC:31752 INFERRED 1315093 USP1 ubiquitin specific peptidase 1 This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 61191184 61206684 + 62901975 62917475 + 62436304 62451804 + 1580863;6480464;8554872 11076863;11230166;11256614;12477932;12838346;14702039;15489334;15489336;15694335;16381901;16531995;18082604;19075014;19471022;19536649;19615732;19690177;20147293;21139048;21389083;21555454;21640107;21693764;21768287;21890473;21906983;21925315;21963094;22118674;22195557;22426999;22701671;22939629;22987070;22989887;23105109;23116119;24386095;24816145;24850727;8889548;9806842;9827704 7398 C9JC88;C9JWX4;O94782 AB014458;AB208893;ABBA01074598;AC096946;AF117386;AK096788;AK312423;AL117503;AL117575;AL599240;AMYH02001140;BC011881;BC018745;BC023216;BC032364;BC040140;BC050525;BI463072;BQ018843;BQ186837;CH471059;KF495964;NM_001017415;NM_001017416;NM_003368 AAD11441;AAH18745;AAH32364;AAH50525;BAA34703;BAD92130;BAG35333;CAB55967;CAB55999;CAL37634;EAX06585;EAX06586;NP_001017415;NP_001017416;NP_003359;O94782 Hs.35086 2131556;5022693;5124405;5491509 MARC_16461-16462:1019835819:1;RH68890;SHGC-74927;USP1 UBP;hUBP OTTHUMP00000010530;deubiquitinating enzyme 1;ubiquitin carboxyl terminal hydrolase 1;ubiquitin carboxyl-terminal hydrolase 1;ubiquitin specific processing protease 1;ubiquitin specific protease 1;ubiquitin thioesterase 1;ubiquitin thiolesterase 1;ubiquitin-specific-processing protease 1 APPROVED protein-coding ENSG00000162607 HGNC:12607 04593 603478 REVIEWED 1317587 USP12 ubiquitin specific peptidase 12 ENCODES a protein that exhibits cysteine-type endopeptidase activity; ubiquitin thiolesterase activity; ubiquitin-specific protease activity; INVOLVED IN protein deubiquitination; PARTICIPATES IN histone modification pathway; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 17beta-estradiol; bucladesine; formaldehyde 13 13 13 q12.13 8709187 8814916 - 27640287 27746033 - 27066150 27171896 - 1580863;6480464;9479061;8554872 24647359 12477932;12838346;15057823;15489334;19075014;19615732;19915573;20147737;21183687;21314694;21832049;22778262;24056413;24145035;24250222;24850727;9615226 219333 O75317 ABBA01035752;AF022789;AK289685;AL049221;AL158062;AL355473;AMYH02027744;AMYH02027745;BC026072;CH471075;NM_182488;XM_005266282 AAC23551;AAH26072;ABM85000;BAF82374;EAX08392;EAX08393;NP_872294;O75317;XP_005266339 Hs.42400 1654330;1671306;1671354;1672975;1736340;1754771;5021270;5124862 A008V43;D13S1148;D13S746;D13S842E;RH65149;RH65983;RH69291;SHGC-33385 UBH1;USP12L1 OTTHUMP00000018161;deubiquitinating enzyme 12;ubiquitin carboxyl-terminal hydrolase 12;ubiquitin specific protease 12;ubiquitin specific protease 12 like 1;ubiquitin thioesterase 12;ubiquitin thiolesterase 12;ubiquitin-hydrolyzing enzyme 1;ubiquitin-specific-processing protease 12 protein-coding ENSG00000152484 HGNC:20485 15631 VALIDATED 1604342 URGCP upregulator of cell proliferation URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carcinoma by promoting hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008] 7 7 7 p13 43905366 43955861 - 43915485 43965996 - 43875902 43926397 - 6480464;8554872 10819331;12082552;12477932;15203218;15302935;16344560;16730941;17217616;18972316;20491173;20714998;21139048;21906983;21963094;22677619;22815774;22939629;23007575;23053999;23821302;24250222 55665 B2RAT5;B7Z7T1;C9J0W2;C9JKA8;F8WCC3;F8WDN0;Q8TCY9 AB040940;ABBA01058197;ABBA01058198;AC004985;AK000661;AK026185;AK302459;AK314339;AL832134;AL833744;AMYH02015612;AMYH02015613;AMYH02015614;AY078404;BC018426;BG722670;BX640797;BX648505;CD628752;CH236951;CH471073;CR749398;DA240479;DA316326;DA494692;DC336174;DR421788;NM_001077663;NM_001077664;NM_001290075;NM_001290076;NM_017920 AAH18426;AAL83710;ABM82000;ABM85183;BAA91312;BAA96031;BAG36982;BAH13717;CAE45880;CAH18244;CAH56246;EAW94174;EAW94175;EAW94176;NP_001071131;NP_001071132;NP_001277004;NP_001277005;NP_060390;Q8TCY9 Hs.663312 1652833;1699550;1710564;1756701;1776057;2128295;2176760;5022651;5024413 D11S2921;GDB:1317474;L17877;RH103374;RH45623;SHGC-143790;SHGC-36996;SHGC-82383;STS-Z40982 DKFZp666G166;DKFZp686O0457;URG4 HBV X protein up-regulated gene 4 protein;HBxAg up-regulated gene 4 protein;OTTHUMP00000207526;OTTHUMP00000207527;OTTHUMP00000207528;OTTHUMP00000207529;OTTHUMP00000207530;OTTHUMP00000207531;OTTHUMP00000207532;up-regulated gene 4;up-regulator of cell proliferation APPROVED protein-coding ENSG00000106608 HGNC:30890 11663 610337 VALIDATED 1352341 USP10 ubiquitin specific peptidase 10 Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013] 16 16 16 q24.1 69035743 69115795 + 84733555 84813528 + 84699949 84779922 + 1580863;6480464 11439350;12477932;12838346;14702039;15252450;15302935;15489334;16344560;16368182;16773218;16964243;17004105;17081983;18029348;18391951;18632802;19398555;19416867;19615732;20020773;20096447;20215869;20379614;20562859;21139048;21890473;21906983;21962518;22118674;22939629;23000965;23230274;23287719;23383273;23775713;24009623;24163370;24250222;24255178;24270572;24270891;24332849;24768535;24816145;24845384;24998844;25027693;8724849;9827704 9100 H3BNA1;H3BNL0;H3BNP1;H3BNS8;H3BQC6;H3BQP1;H3BVF1;J3KT19;Q14694;Q68D90 ABBA01016899;ABBA01016900;AC009116;AC025280;AK055375;AK293304;AK299618;AK315570;AL162049;AMYH02032570;AMYH02032571;AMYH02032572;BC000263;BC064516;BX537402;CH471114;CR749515;D80012;DB077919;GD151792;HI179098;NM_001272075;NM_005153;NR_073577;NR_073578;XM_006721330;XM_006721331;XM_006721332 AAH00263;AAH64516;ABM83479;ABM86690;BAA11507;BAG37945;BAG56825;BAG61546;CAB82392;CAD97644;CAH18330;CBX53857;EAW95470;EAW95471;NP_001259004;NP_005144;Q14694;XP_006721393;XP_006721394;XP_006721395 Hs.136778 1684812;1797026;1853143;2119852;5022578;5024669;5113142 A008M09;Cda0dd05;D1S1423;HSC0DD052;RH79887;RH91711;USP10_1613 KIAA0190;MGC2621;UBPO deubiquitinating enzyme 10;ubiquitin carboxyl-terminal hydrolase 10;ubiquitin specific protease 10;ubiquitin thioesterase 10;ubiquitin thiolesterase 10;ubiquitin-specific-processing protease 10 APPROVED protein-coding ENSG00000103194 HGNC:12608 07029 609818 REVIEWED 6481278 USP12-AS2 USP12 antisense RNA 2 (head to head) 13 13 q12.13 27746298 27757640 + 27172259 27183503 + 100874071 ABBA01035750;AL158062;AL159977;AMYH02027745;AW449459;NR_046548 Hs.735400 APPROVED ncrna HGNC:39962 VALIDATED 6481274 USP12-AS1 USP12 antisense RNA 1 q12.13 100874070 AI204583;AL158062;NR_046547 Hs.524923 APPROVED ncrna HGNC:39961 VALIDATED 1346185 USP12P1 ubiquitin specific peptidase 12 pseudogene 1 5 5 5 q33-q34 166711202 166713511 + 170678647 170680956 + 171251643 171253952 + 12838346;20147737;22778262;9615226 9959 ABBA01044084;AC010306;AC091980;AF022790;AMYH02012730;NG_002822 UBH1;USP12 ubiquitin specific protease 12 pseudogene 1 pseudo HGNC:12610 603091 INFERRED 1322004 USHBP1 Usher syndrome 1C binding protein 1 ENCODES a protein that exhibits PDZ domain binding; INTERACTS WITH 5-azacytidine; 8-bromo-3',5'-cyclic AMP; benzo[a]pyrene (ortholog) 19 19 19 p13 17262392 17277301 - 17360537 17375605 - 17249728 17264796 - 737633;1580863;6480464 12477932 11311560;14702039;15489334;16189514;16713569;19060904;19447967;21988832;24722188 83878 G8JLM4;M0R172;M0R3B1;Q8N6Y0;Q8N8Y1 AA551913;AB026290;AB040046;ABBA01051188;ABBA01051189;AC010646;AC104522;AK075162;AK096028;AK292031;AK300617;AK315239;AMYH02035700;AMYH02035701;BC027910;CH471106;DA589997;KF456520;NM_001297703;NM_031941;XM_005260093;XR_244087 AAH27910;BAB41203;BAB43978;BAC04680;BAC11443;BAF84720;BAG37666;BAG62310;EAW84581;EAW84582;EAW84583;NP_001284632;NP_114147;Q8N6Y0;XP_005260150 Hs.512773 1699136;1770719;2179689;5015619;5016596;5022588;5120437 D11S3114;D5S1597E;GDB:315881;GDB:631802;RH103144;STS-AA018792;STS-Z40754 FLJ38709;FLJ90681;MCC-2;MCC2 AIE-75 binding protein protein;AIE-75-binding protein;AIEBP;USH1C-binding protein 1;Usher syndrome type-1C protein-binding protein 1;mutated in colon cancer protein 2 protein-coding ENSG00000130307 HGNC:24058 18276 611810 VALIDATED 1347156 USP11 ubiquitin specific peptidase 11 Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This gene encodes a deubiquitinating enzyme which lies in a gene cluster on chromosome Xp11.23 [provided by RefSeq, Jul 2008] X X X p11.23 51287607 51302967 + 47092089 47107727 + 47232915 47248328 + 1580863;6480464;8554872 11944989;12084015;12477932;12532266;12838346;12938929;14676191;14702039;14743216;15314155;15489334;15772651;16169070;17353931;17897950;18029348;18408009;19471022;19615732;19874889;20562859;20601937;21139048;21145461;21726808;21890473;21906983;21963094;22001210;22118674;22190034;22195557;22411829;22505724;22586326;22706160;22773947;22797925;22863883;22939629;22990118;23000965;23022380;23337751;23443559;23602568;24250222;24654937;24724799;24816145;24850914;8845848;9801870;9827704;9931462 8237 B4DGK3;C9JBP8;G5E9A6;P51784;Q5JXD3 AB073597;ABBA01052318;ABBA01052319;ABBA01052320;AK055588;AK098394;AK294635;AL096791;AMYH02039274;BC000350;BC063668;BC073960;BC140849;BQ022385;CH471164;HI574234;NG_012546;NM_004651;U44839;XM_005272674 AAC50450;AAH00350;AAH63668;AAI40850;BAC20463;BAG51540;BAG57814;CBX47606;EAW59288;EAW59289;NP_004642;P51784;XP_005272731 Hs.171501 1701750;1740209;1772449;2184987;7185889;7185902 DXS1180E;DXS7590;RH35861;WIAF-2542 UHX1 OTTHUMP00000023205;deubiquitinating enzyme 11;ubiquitin carboxyl-terminal hydrolase 11;ubiquitin carboxyl-terminal hydrolase, X-linked;ubiquitin specific protease 11;ubiquitin thioesterase 11;ubiquitin thiolesterase 11;ubiquitin-specific processing protease 11;ubiquitin-specific-processing protease 11 APPROVED protein-coding ENSG00000102226 HGNC:12609 02081 300050 REVIEWED 1351911 USP12PX ubiquitin specific peptidase 12 pseudogene, X-linked X X X q21.31 89845354 89847636 + 89367445 89369728 + 90112446 90114729 + 254700 AL121877;AMYH02039940;NG_002823 1652535 DXS7609 USP12P2 APPROVED pseudo HGNC:21410 INFERRED 1343926 USP12PY ubiquitin specific peptidase 12 pseudogene, Y-linked X Y Y p11.2 89845354 89847636 + 3550599 3552883 + 3682558 3684842 + 12815422;9847074 359799 ABBA01069806;AC024038;NG_002824 1652535 DXS7609 USP12P3 ubiquitin specific protease 12 pseudogene 3 APPROVED pseudo HGNC:23195 INFERRED 1314436 USP13 ubiquitin specific peptidase 13 (isopeptidase T-3) ENCODES a protein that exhibits cysteine-type endopeptidase activity; ubiquitin binding; ubiquitin protein ligase binding; INVOLVED IN cell proliferation; protein K63-linked deubiquitination; protein stabilization; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; all-trans-retinoic acid 3 3 3 q26.2-q26.3 177801905 177938115 + 179370933 179507189 + 179653145 179789401 + 1580863;6480464;8554872 11076863;11927605;12477932;12838346;14702039;15231748;15489336;16169070;16381901;17148452;18029348;19013454;19615732;20379614;20972266;21139048;21571647;21659512;21811243;21890473;21906983;21962518;21963094;21987572;22053931;22216260;22505724;22939629;23000965;23314748;23940278;24270891;24816145;9827704;9841226 8975 H7C502;H7C5J3;Q92995 ABBA01058530;AC007687;AC125604;AK091484;AK290338;AK302404;AMYH02008230;BC016146;BC049199;BC062766;CH471052;KF457723;NM_003940;U75362 AAC63405;AAH16146;ABM83398;ABM86610;BAF83027;BAG63715;CAL38193;CAL38270;CAL38486;CAL38655;EAW78383;EAW78384;NP_003931;Q92995 Hs.175322 1340183;1678797;1683072;1735082;1754317;1760167;2132752;2181837 D3S2768E;D3S3377;D3S3565;D3S4112;RH93958;RH99087;SHGC-132346;SHGC-132431 ISOT3;IsoT-3 OTTHUMP00000212449;OTTHUMP00000212450;deubiquitinating enzyme 13;isopeptidase T-3;ubiquitin carboxyl-terminal hydrolase 13;ubiquitin specific protease 13 (isopeptidase T-3);ubiquitin thioesterase 13;ubiquitin thiolesterase 13;ubiquitin-specific-processing protease 13 protein-coding ENSG00000058056 HGNC:12611 04666 603591 VALIDATED 3029324 USP17L1 ubiquitin specific peptidase 17-like family member 1 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN apoptotic process (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 8 8 p23.1 10215 12118 - 7189909 7191501 + 7332387 7333979 + 6480464 10936051;11941478;12838346;14699124;15780755;16421571;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;22797925;9806828 401447 Q7RTZ2 AC243982;AF228730;AF252830;BN000116;NM_001256873;XM_006725063 CAD66056;NP_001243802;Q7RTZ2;XP_006725126 Hs.653091 5107957;5111893;5128287 G01912;G42601;SHGC-145429 USP17L1;USP17L1P deubiquitinating enzyme 17-like protein 1;putative ubiquitin carboxyl-terminal hydrolase 17-like protein 1;ubiquitin specific peptidase 17-like 1 (pseudogene);ubiquitin specific peptidase 17-like 1, pseudogene;ubiquitin specific peptidase 17-like family member 1, pseudogene;ubiquitin thioesterase 17-like protein 1;ubiquitin-specific-processing protease 17-like protein 1 APPROVED protein-coding ENSG00000230549 HGNC:37182 INFERRED 6904251 USP17L10 ubiquitin specific peptidase 17-like family member 10 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9212383 9213975 + 9210657 9212249 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287144 C9JJH3 AC108519;NM_001256852 C9JJH3;NP_001243781 Hs.741130 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 10 protein-coding ENSG00000231396 HGNC:44438 INFERRED 1316236 USP16 ubiquitin specific peptidase 16 This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 15580416 15610282 + 30396938 30426809 + 29024617 29054488 + 1580863;6480464;9479061;8661242 24002223;24647359 10077596;10830953;12107411;12477932;12838346;14702039;15171253;15231747;15302935;15489334;15840729;17512543;17914355;18925961;19615732;21090589;21139048;21890473;21906983;21963094;22118674;22195557;22939629;23000965;23287719;24013421;24025767;24816145;8125298;9827704 10600 B4DUS4;H9KVB6;Q9Y5T5 ABBA01057248;AF113219;AF126736;AF129075;AK023247;AK025104;AK025989;AK090776;AK222681;AK222884;AK294284;AK300771;AK302247;AL163249;AMYH02037689;AMYH02037690;AY333928;BC010375;BC030777;BQ637016;CB960929;CH471079;NM_001001992;NM_001032410;NM_006447;W57837 AAD20949;AAG39290;AAH30777;AAR13293;ABM83321;ABM86536;BAD96401;BAD96604;BAG51175;BAG57569;BAG62436;BAG63599;CAB90432;EAX09927;EAX09928;EAX09929;NP_001001992;NP_001027582;NP_006438;Q9Y5T5 Hs.99819 1657559;1699610;2218860;5017849 RH103406;SHGC-54553;USP16;USP16__5038 UBP-M;UBPM OTTHUMP00000096468;OTTHUMP00000096469;OTTHUMP00000096470;deubiquitinating enzyme 16;ubiquitin carboxyl-terminal hydrolase 16;ubiquitin specific protease 16;ubiquitin thioesterase 16;ubiquitin thiolesterase 16;ubiquitin-processing protease UBP-M;ubiquitin-specific processing protease 16;ubiquitin-specific-processing protease 16 APPROVED protein-coding ENSG00000156256 HGNC:12614 06881 604735 REVIEWED 6904258 USP17L11 ubiquitin specific peptidase 17-like family member 11 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9217131 9218723 + 9215405 9216997 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287178 C9JVI0 AC108519;AMYH02008720;AMYH02008721;AMYH02008722;AMYH02008723;NM_001256854 C9JVI0;NP_001243783 Hs.722783 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 11 protein-coding ENSG00000233136 HGNC:44439 INFERRED 6904255 USP17L12 ubiquitin specific peptidase 17-like family member 12 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9221878 9223470 + 9220152 9221744 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287205 C9JPN9 AC108519;NM_001256853 C9JPN9;NP_001243782 Hs.741128 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 12 protein-coding ENSG00000227551 HGNC:44440 INFERRED 733296 USP15 ubiquitin specific peptidase 15 This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011] 12 12 12 q14 62323221 62468927 + 62654121 62803501 + 62260340 62409721 + 1580863;6480464;8554872 10444327;12168954;12477932;12838346;14702039;16005295;16298993;16964243;17353931;18029348;18781797;19373254;19380743;19553310;19576224;19615732;19665996;19738201;20379614;20622874;20811636;21139048;21145461;21219870;21848306;21890473;21947082;21963094;21987572;22001210;22118674;22344298;22412018;22424883;22451720;22626734;22706160;22863883;22939629;22952844;23000965;23022380;23105109;23184937;23402259;23524849;23667531;23708518;23727018;23973329;24399297;24526689;24777531;24811749;24816145;24850914;24939309;24984263;9628581;9827704 9958 F8VVY7;F8VZG8;F8W0H4;H0YH96;H0YHM4;H0YI26;H0YI31;Q9Y4E8 AB011101;ABBA01026635;ABBA01026636;ABBA01026637;ABBA01026638;AC048342;AC079035;AC117370;AF013990;AF106069;AF153604;AI027693;AK023703;AK292337;AK295947;AK297759;AMYH02026632;BC020688;BC063454;BC110908;BC125123;CH471054;DB451322;KF511182;NM_001252078;NM_001252079;NM_006313;XM_005269259;XM_005269261;XM_006719718 AAD41086;AAD52099;AAG28973;AAH20688;AAH63454;AAI10909;AAI25124;BAA25455;BAB14648;BAF85026;BAG60108;BAH12226;EAW97104;EAW97105;EAW97106;NP_001239007;NP_001239008;NP_006304;Q9Y4E8;XP_005269316;XP_005269318;XP_006719781 Hs.434951 1649956;1654854;1736222;1746117;1746569;1760285;1771463;1853088;2135402;2144951;2168477;2178881;2181103;2181413;5022602;5093750 A009W03;D12S1150E;D12S1165E;D12S2133;G32901;G64379;G64474;RH44644;RH44965;RH77885;SHGC-132865;SHGC-53734;SHGC-57599;STS-D29601;STS-H58004;STS-R17914 FLJ55073;KIAA0529;MGC131982;MGC149838;MGC74854;UNPH-2;UNPH4 OTTHUMP00000243156;OTTHUMP00000243158;deubiquitinating enzyme 15;ubiquitin carboxyl-terminal hydrolase 15;ubiquitin specific protease 15;ubiquitin thioesterase 15;ubiquitin thiolesterase 15;ubiquitin-specific-processing protease 15 APPROVED protein-coding ENSG00000135655 HGNC:12613 05293 604731 REVIEWED 6904264 USP17L14P ubiquitin specific peptidase 17-like family member 14, pseudogene 4 4 p16.1 9231367 9232959 + 9229641 9231233 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287270 AC108519;AMYH02008723;NG_022047 pseudo HGNC:44442 INFERRED 6904261 USP17L13 ubiquitin specific peptidase 17-like family member 13 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9226622 9228214 + 9224896 9226488 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287238 C9JLJ4;I3L0E4 AC108519;NM_001256855 C9JLJ4;NP_001243784 Hs.741127 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 13 protein-coding ENSG00000232399 HGNC:44441 INFERRED 6904265 USP17L16P ubiquitin specific peptidase 17-like family member 16, pseudogene 4 4 p16.1 9240958 9241980 + 9239232 9240254 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287302 AC108519;AMYH02008723;NG_022048 pseudo HGNC:44444 INFERRED 6904267 USP17L17 ubiquitin specific peptidase 17-like family member 17 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9245605 9247197 + 9243879 9245471 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287327 D6RBQ6 ABBA01016357;AC108519;AMYH02008723;NM_001256857 D6RBQ6;NP_001243786 Hs.741129 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 17 protein-coding ENSG00000249104 HGNC:44445 INFERRED 6904328 USP17L15 ubiquitin specific peptidase 17-like family member 15 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9236111 9238060 + 9234385 9236334 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100288520 C9J2P7 AC108519;AMYH02008723;NM_001256894 C9J2P7;NP_001243823 Hs.528621 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like;ubiquitin carboxyl-terminal hydrolase 17-like protein 15 protein-coding ENSG00000223569 HGNC:44443 INFERRED 6904270 USP17L18 ubiquitin specific peptidase 17-like family member 18 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9250356 9251948 + 9248630 9250222 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287364 D6R9N7 ABBA01016357;AC108519;AMYH02008723;NM_001256859 D6R9N7;NP_001243788 Hs.741138 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 18 protein-coding ENSG00000250844 HGNC:44446 INFERRED 1605214 USP17L2 ubiquitin specific peptidase 17-like family member 2 DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM, Mar 2008] 8 8 8 p23.1 11194744 11196336 + 11994677 11996269 - 12137168 12138760 - 6480464;8554872 10936051;11941478;14699124;15780755;16611142;17109758;19188362;19615732;19718026;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;23773437;24704006;9806828 377630 Q6R6M4 ABBA01172073;AC130366;AMYH02017460;AY509884;NM_201402 AAI56291;AAI57074;AAR91701;NP_958804;Q6R6M4 Hs.531448 5106379;5107957;5111893;5128287 G01912;G34441;G42601;SHGC-145429 DUB-3;DUB3;USP17 OTTHUMP00000229955;deubiquitinating enzyme 17-like protein 2;deubiquitinating enzyme 3;deubiquitinating protein 3;ubiquitin carboxyl-terminal hydrolase 17;ubiquitin carboxyl-terminal hydrolase 17-like protein 2;ubiquitin specific peptidase 17-like 2;ubiquitin thioesterase 17-like protein 2;ubiquitin thiolesterase 17-like protein 2;ubiquitin-specific-processing protease 17-like protein 2 APPROVED protein-coding ENSG00000223443 HGNC:34434 16844 610186 VALIDATED 6904427 USP17L22 ubiquitin specific peptidase 17-like family member 22 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9269345 9270937 + 9267619 9269211 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287513 D6RA61 AC108519;AMYH02008726;AMYH02008727;NM_001256863;XM_006726411 D6RA61;NP_001243792;XP_006726474 Hs.723053 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 22 protein-coding ENSG00000248933 HGNC:44450 INFERRED 1323483 USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 18 18 18 p11.32 38469 88896 + 158483 213739 + 158483 213739 + 1580863;6480464 12477932;12838346;14499622;14559899;14702039;14962675;15489334;16196087;16211010;16465409;17018280;17079671;17553343;17646385;18029348;18162577;18624398;18781797;19013454;19106094;19135427;19193609;19349277;19471022;19615732;19726649;20237496;21139048;21627382;21890473;21906983;21963094;21987572;22053931;22079093;22118674;22505724;22626734;22863883;22939629;23000965;23287719;23291607;23615914;23751493;23801757;24319254;24654937;24811749;24816145;24951540;8579355;9827704 9097 A6NJA2;B7Z4N8;J3KS55;J3QQT6;P54578;R4GNB0 ABBA01049807;ABBA01049808;ABBA01049809;AK095516;AK098497;AK297605;AK315438;AMYH02034184;AP000845;BC003556;BG717018;BT007183;BU161860;CA438203;CH471113;CR976282;NM_001037334;NM_005151;U30888 AAB60365;AAH03556;AAP35847;ABM84688;ABM92211;BAG37826;BAG53076;BAH12624;EAX01735;EAX01736;EAX01737;EAX01738;NP_001032411;NP_005142;P54578 Hs.464416;Hs.707058 1652306;1734558;1775114;2135013;2138942;2149994;2149996;2158932;2187231;2218636;5113188 A003A48;D18S1244;D18S1294;D18S898E;D18S918E;RH47243;RH65814;RH65926;RH80953;SHGC-30016;USP14__5036 TGT deubiquitinating enzyme 14;tRNA-guanine transglycosylase, 60-kD subunit;ubiquitin carboxyl-terminal hydrolase 14;ubiquitin specific protease 14 (tRNA-guanine transglycosylase);ubiquitin thioesterase 14;ubiquitin thiolesterase 14;ubiquitin-specific processing protease 14;ubiquitin-specific-processing protease 14 APPROVED protein-coding HGNC:12612 06279 607274 REVIEWED 6904303 USP17L24 ubiquitin specific peptidase 17-like family member 24 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN apoptotic process (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9326891 9328483 + 9325165 9326757 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728369 Q0WX57 AC116655;AMYH02008727;NM_001242327 NP_001229256 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 protein-coding ENSG00000232264 HGNC:44453 INFERRED 6904277 USP17L28 ubiquitin specific peptidase 17-like family member 28 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN apoptotic process (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9350619 9352211 + 9348893 9350485 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728400 Q0WX57 AC116655;NM_001242331 NP_001229260 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 protein-coding ENSG00000231051 HGNC:44456 INFERRED 6904274 USP17L29 ubiquitin specific peptidase 17-like family member 29 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN apoptotic process (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9355364 9356956 + 9353638 9355230 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728405 Q0WX57 AC116655;NM_001242332 NP_001229261 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 protein-coding ENSG00000231637 HGNC:44457 INFERRED 2312705 USP17L3 ubiquitin specific peptidase 17-like family member 3 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN apoptotic process (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 8 8 p23.1 10214 11806 - 7833915 7835507 - 7976393 7977985 - 6480464 10936051;11941478;14699124;15780755;16421571;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 645836 A6NCW0 ABBA01001664;AC130365;AMYH02017364;NM_001256871 A6NCW0;NP_001243800 Hs.741131 5107957;5111893;5128287 G01912;G42601;SHGC-145429 USP17B;USP17F deubiquitinating enzyme 17-like protein 3;ubiquitin carboxyl-terminal hydrolase 17-like protein 3;ubiquitin specific peptidase 17-like 3;ubiquitin thioesterase 17-like protein 3;ubiquitin-specific-processing protease 17-like protein 3 APPROVED protein-coding ENSG00000225327 HGNC:37175 VALIDATED 6904281 USP17L21 ubiquitin specific peptidase 17-like family member 21 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9264598 9266190 + 9262872 9264464 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287478 D6R901 AC108519;NM_001256862 D6R901;NP_001243791 Hs.741136 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 21 protein-coding ENSG00000249811 HGNC:44449 INFERRED 6904284 USP17L20 ubiquitin specific peptidase 17-like family member 20 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9259850 9261442 + 9258124 9259716 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287441 D6RJB6 AC108519;AMYH02008727;AMYH02008728;AMYH02008729;AMYH02008730;AMYH02008731;AMYH02008732;AMYH02008733;AMYH02008734;AMYH02008735;AMYH02008736;AY188990;NM_001256861 AAO38845;D6RJB6;NP_001243790 Hs.722783;Hs.741133 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 20 protein-coding ENSG00000250745 HGNC:44448 INFERRED 6904287 USP17L19 ubiquitin specific peptidase 17-like family member 19 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9255104 9256696 + 9253378 9254970 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287404 D6RCP7 AC108519;AMYH02008727;NM_001256860 D6RCP7;NP_001243789 Hs.741137 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 19 protein-coding ENSG00000248920 HGNC:44447 INFERRED 6904294 USP17L27 ubiquitin specific peptidase 17-like family member 27 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN apoptotic process (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9345874 9347466 + 9344148 9345740 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728393 Q0WX57 AC116655;NM_001242330 NP_001229259 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 protein-coding ENSG00000235780 HGNC:44455 INFERRED 6904297 USP17L26 ubiquitin specific peptidase 17-like family member 26 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN apoptotic process (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9336384 9337976 + 9334658 9336250 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728379 Q0WX57 AC116655;AMYH02008718;NM_001242328 NP_001229257 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 protein-coding ENSG00000229579 HGNC:44454 INFERRED 6904290 USP17L30 ubiquitin specific peptidase 17-like family member 30 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN apoptotic process (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9364855 9366447 + 9363129 9364721 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728419 Q0WX57 ABBA01032499;AC116655;NM_001256867 NP_001243796 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 protein-coding ENSG00000228856 HGNC:44458 INFERRED 6904300 USP17L25 ubiquitin specific peptidase 17-like family member 25 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN apoptotic process (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9331637 9333229 + 9329911 9331503 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728373 Q0WX57 AC116655;AMYH02008718;NM_001242326 NP_001229255 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 protein-coding ENSG00000230430 HGNC:44452 INFERRED 2312696 USP17L4 ubiquitin specific peptidase 17-like family member 4 ENCODES a protein that exhibits ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 8 8 8 p23.1 11199158 11201067 + 7194637 7196229 + 7337115 7338707 + 6480464 10936051;11941478;14699124;15780755;16421571;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 645402 A6NCW7 ABBA01011727;AC130360;AC243982;NM_001256874 A6NCW7;NP_001243803 Hs.741134 5107957;5111893;5128287 G01912;G42601;SHGC-145429 inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4;ubiquitin specific peptidase 17-like 4 APPROVED protein-coding ENSG00000236125 HGNC:37176 VALIDATED 2312702 USP17L7 ubiquitin specific peptidase 17-like family member 7 ENCODES a protein that exhibits ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 8 8 8 p23.1 11199475 11201067 + 11989926 11991518 - 12132417 12134009 - 6480464 10936051;11941478;14699124;15780755;16421571;16611142;17109758;19188362;19615732;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 392197 P0C7H9 ABBA01172073;AC130366;AMYH02017460;NM_001256869 NP_001243798;P0C7H9 Hs.741132 5106379;5107957 G01912;G34441 inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7;ubiquitin specific peptidase 17-like 7 APPROVED protein-coding HGNC:37180 VALIDATED 2312703 USP17L8 ubiquitin specific peptidase 17-like family member 8 ENCODES a protein that exhibits ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 8 8 p23.1 7829183 7830775 - 7971661 7973253 - 6480464 10936051;11941478;14699124;15780755;16421571;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 392188 P0C7I0 AC130365;AMYH02017364;NM_001256872 NP_001243801;P0C7I0 Hs.741135 5107957;5111893;5128287 G01912;G42601;SHGC-145429 USP17L10 inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8;ubiquitin specific peptidase 17-like 8 APPROVED protein-coding ENSG00000237038 HGNC:37181 VALIDATED 731337 USP2 ubiquitin specific peptidase 2 This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 11 q23.3 116386596 116413112 - 119225925 119252436 - 119355215 119381726 - 1580863;6480464;8554872 12477932;12566314;12821332;12838346;14686789;14695475;14702039;14743216;15050917;15489334;16189514;16196087;16306228;16325574;16344560;16905103;17290220;17553343;18029348;18701608;19373254;19436748;19615732;19838211;19917254;20403044;20516210;20622874;20940148;21293491;21478478;21480224;21826056;21832049;21890637;22024150;22118674;22179575;22370483;22611252;22626734;22659130;22669941;22710717;22751931;22990118;23105109;23211065;23263486;23264041;23287719;23416128;23751493;24071644;24445145;24703950;24816145;24975362;25023518;9325273;9827704 9099 E9PJ34;E9PSH6;O75604 ABBA01039670;ABBA01039671;ABBA01039672;AF079564;AF440755;AI806430;AK057225;AK292255;AK301805;AMYH02025668;AMYH02025669;AP003396;BC002854;BC002955;BC041366;CH471065;DB065104;DB088349;DB098786;EF445044;NG_029825;NM_001243759;NM_004205;NM_171997;XM_005271721;XM_005271722 AAC28392;AAH02854;AAH02955;AAH41366;AAN65363;ABM83458;ABM86669;ACA06096;ACA06097;BAB71388;BAF84944;BAH13558;EAW67484;EAW67485;EAW67486;NP_001230688;NP_004196;NP_741994;O75604;XP_005271778;XP_005271779 Hs.524085 1719919;2161552;5492007 RH123652;SHGC-37028;ksks269 UBP41;USP9 41 kDa ubiquitin-specific protease;OTTHUMP00000232156;OTTHUMP00000232157;OTTHUMP00000232158;deubiquitinating enzyme 2;ubiquitin carboxyl-terminal hydrolase 2;ubiquitin specific protease 12;ubiquitin specific protease 2;ubiquitin specific protease 9;ubiquitin thioesterase 2;ubiquitin thiolesterase 2;ubiquitin-specific-processing protease 2 APPROVED protein-coding ENSG00000036672 HGNC:12618 05287 604725 REVIEWED 1349777 USP17L9P ubiquitin specific peptidase 17-like family member 9, pseudogene ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN apoptotic process (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate 4 4 4 p15 9042107 9043021 + 9360108 9361700 + 9358382 9359974 + 6480464 10936051;11181995;11941478;12477932;12838346;14699124;15780755;15815621;17109758;19615732;20147298;20368735;20388806;21239494;21448158;22662218;24123619;24134311;24610907;9192848;9806828 391627 AC116655;AF544011;AF544012;BC100991;BC100992;BC100993;CH471069;D38378;NR_046416 AAQ11741;AAQ11742;EAW92671;Q0WX57 Hs.553810;Hs.631527;Hs.723053 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 MGC119330;MGC119331;MGC119333;RS447;USP17;USP17A;USP17H;USP17I;USP17J;USP17K;USP17L;USP17M deubiquitinating enzyme 17;deubiquitinating enzyme 3-like;ubiquitin carboxyl-terminal hydrolase 17;ubiquitin specific protease 17;ubiquitin thioesterase 17;ubiquitin thiolesterase 17;ubiquitin-specific-processing protease 17 APPROVED pseudo ENSG00000251694 HGNC:12615 607011 VALIDATED 1353279 USP18 ubiquitin specific peptidase 18 The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011] 22 22 22 q11.21 2251821 2269866 + 18632758 18660164 + 18149954 18177397 + 1549873;1580863;6480464 11788588 10722734;10777664;11076863;11230166;11256614;11313150;12477932;12838346;15342634;15461802;15489334;15489336;16189514;16381901;16710296;17374743;19551150;19615732;20068173;20935222;21592959;21963094;22100648;22170061;22626734;22677194;22683641;22731491;22752428;23152055;23291318;23700969;24768535 11274 Q9UMW8 ABBA01001420;AC008079;AF176642;AI222587;AJ243526;AK313385;AL136690;AMYH02038021;BC014896;BI752849;BT006835;BU584005;CH471193;CR457216;CT841507;NM_017414;XM_006724074 AAD49967;AAH14896;AAP35481;BAG36183;CAB66625;CAB76398;CAG33497;CAJ86437;CAK54503;CAK54802;CAL38273;EAW57790;EAW57791;NP_059110;Q9UMW8;XP_006724137 Hs.38260 2112402;5124776 D22S1604;RH98956 ISG43;UBP43;hUBP43 43 kDa ISG15-specific protease;ISG15-specific-processing protease;OTTHUMP00000196334;ubiquitin specific protease 18;ubl carboxyl-terminal hydrolase 18;ubl thioesterase 18;ubl thiolesterase 18 APPROVED protein-coding ENSG00000184979 HGNC:12616 06136 607057 VALIDATED 1344113 USP19 ubiquitin specific peptidase 19 ENCODES a protein that exhibits ubiquitin-specific protease activity; INVOLVED IN ER-associated ubiquitin-dependent protein catabolic process; regulation of cellular response to hypoxia; response to endoplasmic reticulum stress; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum membrane; INTERACTS WITH 2,4-D; atrazine; paracetamol 3 3 3 p21.31 49103060 49115165 - 49145479 49158371 - 49108046 49120938 - 1580863;6480464;8554872 10048485;12477932;12838346;15302935;16226712;19465887;19615732;19875381;21139048;21264218;21849505;21890473;21906983;21987572;22118674;22128162;22706160;22810585;22863883;22939629;23000965;23500468;24356957;24816145;25036637 10869 B5MEG5;E7EST9;E7ESU0;H0YB23;O94966 AB020698;ABBA01024612;AC135506;AK294756;AK296447;AK300425;AMYH02006742;BC014934;BC048269;BC065909;BC082241;BC106029;BC128088;BC142660;BC142727;BC146752;CH471055;DC323791;DC332671;EF036501;NM_001199160;NM_001199161;NM_001199162;NM_006677;XM_005264823;XM_005264824;XM_005264825;XM_005264826;XM_005264827;XM_005264828;XM_005264829;XM_005264830;XM_005264831;XM_006712946;XM_006712947;XM_006712948;XM_006712949;XM_006712950;XM_006712951;XM_006712952;XM_006712953 AAH48269;AAH65909;AAH82241;AAI06030;AAI42661;AAI42728;AAI46753;ABO65087;BAA74914;BAG57894;BAG59098;BAG62152;EAW64955;EAW64956;EAW64957;NP_001186089;NP_001186090;NP_001186091;NP_006668;O94966;XP_005264880;XP_005264881;XP_005264882;XP_005264883;XP_005264884;XP_005264885;XP_005264886;XP_005264887;XP_005264888;XP_006713009;XP_006713010;XP_006713011;XP_006713012;XP_006713013;XP_006713014;XP_006713015;XP_006713016 Hs.255596;Hs.734003 1646732;1647929;2112652;2112688;2124447;2148532 D3S3922;D3S4387;D3S4404;RH12486;STS-H14516;WI-21449 ZMYND9 OTTHUMP00000164974;OTTHUMP00000164975;OTTHUMP00000164977;OTTHUMP00000164978;OTTHUMP00000210659;OTTHUMP00000210660;OTTHUMP00000210661;deubiquitinating enzyme 19;ubiquitin carboxyl-terminal hydrolase 19;ubiquitin specific protease 19;ubiquitin thioesterase 19;ubiquitin thiolesterase 19;ubiquitin-specific-processing protease 19;zinc finger MYND domain-containing protein 9 protein-coding ENSG00000172046 HGNC:12617 18278 614471 VALIDATED 1313758 USP20 ubiquitin specific peptidase 20 This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013] 9 9 9 q34.11 103248726 103295216 + 132597696 132644121 + 129835417 129881842 + 1580863;6480464 10231032;10369878;12056827;12477932;12838346;12865408;15342556;15776016;16344560;17081983;17350623;18029348;18976975;19424180;19615732;19851296;20198315;21525354;22118674;22552337;22626734;23166351;23166591;23486064;24923443;8889548 10868 Q9UQN9;Q9Y2K6 AB023220;ABBA01043951;ABBA01043952;AL158207;AMYH02021746;AMYH02021747;AY074877;BC033669;BC039593;BF727180;BM678735;BP246486;BQ882312;BX462233;CH471090;DA791069;NG_033097;NM_001008563;NM_001110303;NM_006676;XM_005251665;XM_005251666;XM_006716938;Y17457;Y17458;Y17459 AAH39593;AAL79676;BAA76847;CAB44350;CAB44351;CAB44352;EAW87911;EAW87912;EAW87913;EAW87914;EAW87915;NP_001008563;NP_001103773;NP_006667;Q9Y2K6;XP_005251722;XP_005251723;XP_006717001 Hs.5452 1657106;1686907;1740113;1763563;2110023 D9S1766;RH12701;SHGC-147266;SHGC-58438;USP20_9189 KIAA1003;LSFR3A;VDU2;hVDU2 OTTHUMP00000022346;OTTHUMP00000022347;OTTHUMP00000022348;VHL-interacting deubiquitinating enzyme 2;deubiquitinating enzyme 20;pVHL-interacting deubiquitinating enzyme 2;ubiquitin carboxyl-terminal hydrolase 20;ubiquitin specific protease 20;ubiquitin thioesterase 20;ubiquitin thiolesterase 20;ubiquitin-specific-processing protease 20 protein-coding ENSG00000136878 HGNC:12619 07505 615143 REVIEWED 1349681 USP21 ubiquitin specific peptidase 21 This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] 1 1 1 q22 134196407 134202669 + 161129248 161135516 + 161159464 161165726 + 1580863;6480464;9479061 24647359 10786635;10799498;12477932;15231747;15489334;16341674;19615732;19910467;20467438;20622874;21399617;21888622;21906983;22118674;22195557;22298430;22626734;23105109;23287719;23395819;24163370;24250222;24493797;8889549 27005 Q9NSS9;Q9UK80;V9GY36;V9GYJ6 AB208899;ABBA01016596;AF177758;AF217979;AF233442;AI038040;AK292319;AK310326;AL157417;AL590714;AMYH02002032;BC003130;BC090946;BC136291;BI463191;BI755746;BM742944;CH471121;N76159;NM_001014443;NM_012475;T77123;XM_006711273;XM_006711274 AAD54321;AAF61308;AAG17222;AAH03130;AAH90946;AAI36292;BAD92136;BAF85008;CAB75649;EAW52642;EAW52643;EAW52644;EAW52645;NP_001014443;NP_036607;Q9UK80;XP_006711336;XP_006711337 Hs.8015 1652326;1683098;1685530;1694586;2145731;2174574;2174576;2175448 A002D06;D1S3338;G19947;G43283;NIB1690;RH15837;RH75;RH8143 MGC3394;USP16;USP23 NEDD8-specific protease;OTTHUMP00000031883;OTTHUMP00000031884;deubiquitinating enzyme 21;ubiquitin carboxyl-terminal hydrolase 21;ubiquitin specific protease 21;ubiquitin thioesterase 21;ubiquitin thiolesterase 21;ubiquitin-specific processing protease 21;ubiquitin-specific protease 16;ubiquitin-specific-processing protease 21 APPROVED protein-coding ENSG00000143258 HGNC:12620 05291 604729 REVIEWED 6481082 USP24P1 ubiquitin specific peptidase 24 pseudogene 1 13 13 19589627 19593476 - 19015487 19019336 - 100874248 ABBA01068543;AC245087;AL137001;NG_032390 pseudo HGNC:42014 INFERRED 1315618 USP24 ubiquitin specific peptidase 24 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008] 1 1 1 p32.3 53819636 53968611 - 55532032 55681039 - 55066359 55215366 - 1580863;6480464 10470851;11181995;12477932;12838346;14702039;14715245;15144186;15146197;15302935;15489334;16917932;16964243;17081983;17620599;20195357;20302855;20639865;21139048;21890473;21906983;21963094;21987572;22053931;22113938;22118674;22505724;22586326;22863883;22916037;22923019;23000965;23159851;23667531;23726366;24286619;24816145 23358 Q9UPU5 AB028980;ABBA01074698;ABBA01074699;AC091609;AK000321;AK055871;AK127075;AL832370;AMYH02001062;AMYH02001063;AMYH02001064;AMYH02001065;AMYH02001066;BC029660;BU156226;BX953826;CH471059;CN255594;NM_015306;XM_005270689;XM_005270690;XM_006710511 AAH29660;AAI60138;BAA83009;BAA91084;BAC86814;EAX06657;EAX06658;EAX06659;NP_056121;Q9UPU5;XP_005270746;XP_005270747;XP_006710574 Hs.477009 1670764;1774644;1774646;1781434;1851709;2108637;2184136;5016403 A001W25;D1S2431;G02304;G19716;SHGC-111494;SHGC-74875;SHGC-74876;USP24__5041.2 FLJ31309;KIAA1057 OTTHUMP00000009832;deubiquitinating enzyme 24;ubiquitin carboxyl-terminal hydrolase 24;ubiquitin specific protease 24;ubiquitin thioesterase 24;ubiquitin thiolesterase 24;ubiquitin-specific processing protease 24;ubiquitin-specific-processing protease 24 APPROVED protein-coding ENSG00000162402 HGNC:12623 610569 VALIDATED 2793512 USP17L6P ubiquitin specific peptidase 17-like family member 6, pseudogene ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH cadmium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog) 4 4 4 p16.1 9873259 9874373 + 9369600 9370796 + 9367874 9369070 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 391622 Q6QN14 ABBA01032499;AC116655;AMYH02008736;AY533200;NR_027279 AAS59847;Q6QN14 Hs.722658 5096683;5106379;5111893;5128287 G01806;G34441;G42601;SHGC-145429 DUB4;USP17L6;vDUB4 APPROVED pseudo ENSG00000205946 HGNC:37179 VALIDATED 1354275 USP26 ubiquitin specific peptidase 26 This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. [provided by RefSeq, Jul 2008] X X X q26.2 132545874 132548667 - 132158659 132231135 - 133025479 133028272 - 1580863;6480464 11279525;12477932;12838346;15489334;15562280;15772651;15970005;16888075;17121659;17955473;17968467;18029348;18062861;18187620;18377898;18927127;18958354;19615732;20378615;20501646;21147082;22568204;22939629;23779098 83844 Q495F8;Q9BXU7 ABBA01042294;AF285593;AK292527;AMYH02040506;BC069073;BC101189;BC101190;BC101191;BC101192;CH471107;NG_013268;NM_031907;Z81365 AAH69073;AAI01190;AAI01191;AAI01192;AAK31972;BAF85216;EAX11774;NP_114113;Q9BXU7 Hs.333137 1789464;2110025 G65777;USP26__5043 MGC120066;MGC120067;MGC120068 OTTHUMP00000024046;OTTHUMP00000217678;deubiquitinating enzyme 26;ubiquitin carboxyl-terminal hydrolase 26;ubiquitin specific protease 26;ubiquitin thioesterase 26;ubiquitin thiolesterase 26;ubiquitin-specific processing protease 26;ubiquitin-specific-processing protease 26 APPROVED protein-coding HGNC:13485 02255 300309 REVIEWED 1350698 USP27X ubiquitin specific peptidase 27, X-linked ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); INTERACTS WITH benzo[a]pyrene; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) X X X p11.23 53713777 53716476 + 49644470 49647169 + 49879867 49882565 + 6480464 10737800;12838346;18029348;19615732;21890473 389856 A6NNY8 ABBA01063290;AC236430;AF238380;AMYH02039354;AW290976;AY672104;CH471180;NM_001145073 A6NNY8;EAW89930;NP_001138545 Hs.143587 USP22L;USP27 X-linked ubiquitin carboxyl-terminal hydrolase 27;deubiquitinating enzyme 27;ubiquitin carboxyl-terminal hydrolase 22-like;ubiquitin carboxyl-terminal hydrolase 27;ubiquitin specific protease 27, X chromosome;ubiquitin thioesterase 27;ubiquitin thiolesterase 27;ubiquitin-specific-processing protease 27 protein-coding ENSG00000273820 HGNC:13486 VALIDATED 2303488 USP27X-AS1 USP27X antisense RNA 1 (head to head) X X X p11.23 53710634 53713266 - 49641327 49643959 - 49876724 49879356 - 12477932;14702039;16344560 158572 ABBA01063290;AC236430;AF238380;AK056746;AMYH02039354;BC093943;BC093945;BI086725;BX106362;CH471180;DA687298;NR_026742 BAG51801;EAW89931 Hs.408191 1768098;5493219 STS-AA032156;UniSTS:485362 APPROVED ncrna ENSG00000234390 HGNC:27249 18740 VALIDATED 2800946 USP17L5 ubiquitin specific peptidase 17-like family member 5 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN apoptotic process (inferred); ubiquitin-dependent protein catabolic process (inferred); FOUND IN endoplasmic reticulum (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-diaminotoluene (ortholog); 3-methylcholanthrene (ortholog) 4 4 p16.1 9341129 9342721 + 9339403 9340995 + 6480464 10936051;11941478;14699124;15780755;15815621;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728386 A8MUK1 AC116655;NM_001242329 A8MUK1;NP_001229258 Hs.740243 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 OTTHUMP00000217749;Ubiquitin carboxyl-terminal hydrolase 17-like protein 5;deubiquitinating enzyme 17-like protein 5;ubiquitin specific peptidase 17-like 5;ubiquitin thioesterase 17-like protein 5;ubiquitin thiolesterase 17-like protein 5;ubiquitin-specific-processing protease 17-like protein 5 APPROVED protein-coding ENSG00000227140 HGNC:37177 INFERRED 1315382 USP29 ubiquitin specific peptidase 29 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitin thiolesterase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; pirinixic acid 19 19 19 q13.43 54675198 54686985 + 57631509 57643294 + 57120141 57131926 + 1580863;6480464;8554872 10958632;12477932;12838346;19615732;21285945;24632611 57663 M0QZL0;M0R2Y1;Q9HBJ7 ABBA01020818;AC025588;AF124433;AF229438;AK308285;AMYH02036506;BC130394;BC130398;HC044595;NM_020903 AAG10401;AAI30395;AAI30399;ADR83412;CBH30627;NP_065954;Q9HBJ7 Hs.515632 1341613;1794280;2218638 D19S887;PMC310910P2;USP29__5044 HOM-TES-84/86;MGC163266;MGC163270 deubiquitinating enzyme 29;ubiquitin carboxyl-terminal hydrolase 29;ubiquitin specific protease 29;ubiquitin thioesterase 29;ubiquitin thiolesterase 29;ubiquitin-specific processing protease;ubiquitin-specific-processing protease 29 protein-coding ENSG00000131864 HGNC:18563 07163 609546 VALIDATED 1319103 USP25 ubiquitin specific peptidase 25 Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008] 21 21 21 q11.2 2272740 2422618 + 17102327 17252377 + 15730008 15880072 + 1580863;6480464 10612803;10644437;10830953;11597335;12477932;12838346;14702039;15231748;16501887;18523997;18538659;19013454;19165232;19440361;19615732;19760754;19909739;20379614;20972266;21139048;21145461;21480003;21738487;21890473;21906983;21963094;22053931;22118674;22195557;22590560;22863883;22939629;23000965;23314748;24260525;25015289 29761 H7C1T8;H7C253;Q96B65;Q9UHP3 ABBA01057088;ABBA01057089;ABBA01057090;AF134213;AF170562;AJ010597;AJ010598;AK022447;AK022574;AK094083;AMYH02037529;AMYH02037530;AMYH02037531;AMYH02037532;AMYH02037533;BC015930;BC018686;BC075792;BI256537;BM149594;BQ215557;CH471079;FJ763652;HG765100;NM_001283041;NM_001283042;NM_013396;XM_005260949;XM_006723992;XR_430349 AAF24998;AAF32263;AAH15930;AAH75792;ACN76567;BAB14037;BAB14107;CDJ98632;EAX10041;EAX10042;EAX10043;EAX10044;EAX10045;NP_001269970;NP_001269971;NP_037528;Q9UHP3;XP_005261006;XP_006724055 Hs.743994 1651189;1652692;1652694;1653213;1681973;1730839;1732107;1794804;2164041;2171566;2220018 A002B43;D21S1830;D21S189;D21S382;G18012;G19905;G34705;PMC57798P1;RH36201;SHGC-52068;USP25__5042 USP21 OTTHUMP00000083055;OTTHUMP00000083056;USP on chromosome 21;deubiquitinating enzyme 25;ubiquitin carboxyl-terminal hydrolase 25;ubiquitin specific protease 25;ubiquitin thioesterase 25;ubiquitin thiolesterase 25;ubiquitin-specific processing protease 25;ubiquitin-specific-processing protease 25 APPROVED protein-coding ENSG00000155313 HGNC:12624 05296 604736 VALIDATED 7245415 USP3-AS1 USP3 antisense RNA 1 15 15 15 q22.31 40759312 40772428 - 63879909 63893026 - 63587710 63600827 - 12477932;14702039;24324551 100130855 ABBA01038909;AC118274;AK093077;AMYH02030589;BC017581;BC036918;DB444752;HG507126;HG507127;NR_034080 Hs.631163 1663562;1667468;1670408;1698348;1748503;2116164;2148196 Cda0wh05;D15S1196;RH102715;SHGC-131175;STS-R06895;WI-14801;WI-16537 RP11-265M18.2 ncrna ENSG00000259248 HGNC:44140 VALIDATED 1318862 USP3 ubiquitin specific peptidase 3 ENCODES a protein that exhibits histone binding; ubiquitin thiolesterase activity; INVOLVED IN DNA repair; histone deubiquitination; mitotic cell cycle; PARTICIPATES IN ataxia telangiectasia-mutated (ATM) signaling pathway; histone modification pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nuclear chromatin; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid; benzene 15 15 15 q22.3 40676343 40763066 + 63796710 63886839 + 63504511 63594640 + 1580863;6480464;9479061;8554872;8661242 24002223;24647359 10480896;12477932;12838346;14702039;16344560;17980597;19322201;19615732;20379614;20445134;21139048;21890473;21906983;21963094;21987572;22118674;22505724;22743239;22939629;23000965;23287719;24196443;24366338;24816145 9960 B4DV65;B4DWJ6;H0YKU8;H0YL81;H0YLB7;H0YLG0;H0YLJ0;H0YM72;H0YMI4;H0YMP6;H0YMW1;H0YNK1;H0YNX9;Q6JHV3;Q9Y6I4 ABBA01038909;ABBA01038910;AC007950;AC118274;AF073344;AF077040;AI695842;AK022931;AK094444;AK300948;AK301236;AK301563;AK307810;AK309382;AK314223;AMYH02030587;AMYH02030588;AMYH02030589;AY461579;BC018113;BC065300;BC100029;BC107137;BC107138;BT007269;BX647760;CH471082;DA557812;NM_001256702;NM_006537;NR_046341;NR_046342;XM_005254816;XM_006720789;XM_006720790;XM_006720791;XM_006720792 AAD27773;AAD42992;AAH18113;AAH65300;AAI00030;AAI07138;AAI07139;AAP35933;AAT37507;ABM81951;ABM85131;BAG51139;BAG62577;BAG62807;BAG63058;EAW77651;NP_001243631;NP_006528;Q9Y6I4;XP_005254873;XP_006720852;XP_006720853;XP_006720854;XP_006720855 Hs.458499 1663562;1667468;1670408;1698348;1738949;1748503;2148196;2171524;5015404;5016781;5037552 Cda0wh05;D15S1196;D15S853;D8S2279;L17705;RH102715;RH47970;SHGC-131175;SHGC-67307;STS-R06895;WI-16537 MGC129878;MGC129879;SIH003;UBP deubiquitinating enzyme 3;ubiquitin carboxyl-terminal hydrolase 3;ubiquitin specific protease 3;ubiquitin thioesterase 3;ubiquitin thiolesterase 3;ubiquitin-specific-processing protease 3 protein-coding ENSG00000140455 HGNC:12626 05290 604728 VALIDATED 7254338 USP2-AS1 USP2 antisense RNA 1 (head to head) 11 11 11 q23 116413164 116531257 + 119252488 119397374 + 119381778 119499233 + 14702039 100499227 ABBA01039668;ABBA01039669;ABBA01039670;AK097820;AL559224;AMYH02025669;AP003395;AP003396;BQ429648;BU171165;BU176864;HG504234;HG504235;HG504237;KF455544;KF455545;KF455546;KF510356;KF511133;KF511477;NR_034160 Hs.662365 1671530;1677474;1719919;1728227;1737231;1738127;1772722;1774348;1851655;1855450;1858104;2150753 D11S3099;D11S3748;G63536;RH11662;RH123652;RH15909;RH64909;RH98444;SHGC-8027;STS-Z40916;THY1;WI-19346 RP11-305N23.1;THY1-AS1 ncrna HGNC:48673 VALIDATED 6767409 USP30-AS1 USP30 antisense RNA 1 12 12 12 q24.11 109114096 109115703 - 109489846 109491770 - 109052041 109053965 - 18487259 100131733 AA143146;AB371497;ABBA01005060;AC011596;AI572633;AMYH02027163;AW977362;NR_038996 Hs.660996 5021400 RH48223 APPROVED ncrna HGNC:40909 VALIDATED 1317813 USP31 ubiquitin specific peptidase 31 ENCODES a protein that exhibits ubiquitin-specific protease activity; INVOLVED IN protein deubiquitination; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; copper(2+) sulfate 16 16 16 p12.2 21850471 21938333 - 23072727 23160591 - 23061406 23149270 - 6480464;8554872 10574462;12838346;14702039;14715245;15354349;16214042;16341674;18029348 57478 I3L4X5;Q70CQ4 AB033029;ABBA01017827;ABBA01017828;AC099482;AC127459;AJ586135;AK057491;AK092790;AK126447;AK126752;AMYH02031694;BM842261;BX648357;CH471145;HG507846;NM_020718;XM_005255450;XM_006721071 AAI56335;BAA86517;BAC86554;BAG52610;CAE51935;CAH10383;EAW55835;EAW55836;NP_065769;Q70CQ4;XP_005255507;XP_006721134 Hs.183817 1664329;1673840;1738721;2117238;2121231;2179541 D16S2823;RH35845;SHGC-35920;SHGC-60522;SHGC-61085;STS-W67951 KIAA1203;RP11-20G6.3 OTTHUMP00000120022;deubiquitinating enzyme 31;ubiquitin carboxyl-terminal hydrolase 31;ubiquitin specific protease 31;ubiquitin specific proteinase 31;ubiquitin thioesterase 31;ubiquitin thiolesterase 31;ubiquitin-specific-processing protease 31 protein-coding ENSG00000103404 HGNC:20060 15634 VALIDATED 5552925 USP32P1 ubiquitin specific peptidase 32 pseudogene 1 INTERACTS WITH silicon dioxide 17 17 17 p11.2 1429 1731 - 16690206 16707819 + 16786892 16804505 + 6480464 11997339;12477932;16344560 162632 ABBA01177868;AC022596;AC098850;AK302945;AK311696;AK316466;AMYH02033081;AY363305;BC039345;BC063453;DA118870;NR_003190 AAQ72371;BAG64102;BAH14837 Hs.419859 1713893;5095864;5114870 D17S1980;RH119377;SHGC-57390 FLJ18738 pseudo ENSG00000188933 HGNC:43570 VALIDATED 1323075 USP28 ubiquitin specific peptidase 28 The ubiquitin-dependent protein degradation pathway is essential for proteolysis of intracellular proteins and peptides. Enzymes that remove ubiquitin from ubiquitin-conjugated peptides, like USP28, affect the fate and degradation of intracellular proteins and are essential for maintenance of cell-free ubiquitin pools (Valero et al., 2001).[supplied by OMIM, Mar 2008] 11 11 11 q23 110821475 110899132 - 113668597 113746292 - 113797875 113875570 - 1580863;6480464 10819331;11597335;12477932;12838346;14702039;16901786;17558397;17873522;18029348;18662541;19322201;19471022;19615732;19850743;21139048;21252943;21890473;21906983;21963094;22118674;22144179;22626734;22939629;23000965;23389829;23449389;23832602;24075993;24250222;24347490;24687851 57646 B4E3L3;F5GZ74;F5H2G4;F5H6Q3;G3V1N5;H0YFA0;H0YFD7;H0YFT9;H0YFX3;H0YG96;H0YH19;Q6NZX9;Q96RU2 AB040948;ABBA01039778;ABBA01039779;ABBA01039780;ABBA01039781;ABBA01039782;AF266283;AK027521;AK097623;AK304376;AK304770;AMYH02025595;AP001874;AP003170;BC035986;BC065928;BF434481;BU940680;CD704003;CH471065;DB061316;EF445045;KF455523;KF459544;NM_001301029;NM_020886;XM_005271630;XM_005271631;XM_005271632;XM_005271633;XM_005271636;XM_005271637;XM_005271638;XM_005271639;XM_005271641 AAH65928;AAK58565;ACA06098;ACA06099;BAA96039;BAB55172;BAG65214;BAG65525;EAW67231;EAW67232;EAW67233;EAW67234;EAW67235;NP_001287958;NP_065937;Q96RU2;XP_005271687;XP_005271688;XP_005271689;XP_005271690;XP_005271693;XP_005271694;XP_005271695;XP_005271696;XP_005271698 Hs.503891 KIAA1515 OTTHUMP00000238295;OTTHUMP00000238297;deubiquitinating enzyme 28;ubiquitin carboxyl-terminal hydrolase 28;ubiquitin carboxyl-terminal hydrolase 28 variant 1;ubiquitin specific protease 28;ubiquitin thioesterase 28;ubiquitin thiolesterase 28;ubiquitin-specific-processing protease 28 APPROVED protein-coding ENSG00000048028 HGNC:12625 15632 610748 VALIDATED 1602174 USP32P2 ubiquitin specific peptidase 32 pseudogene 2 INTERACTS WITH all-trans-retinoic acid 17 17 17 p11.2 5087295 5095928 + 18414576 18424566 - 18511262 18521252 - 6480464 11997339;12477932;19615732 220594 ABBA01017703;AC107983;AJ012755;AK124785;AK308293;AMYH02033116;BC075826;BC126273;NR_003554 CAA10171 Hs.234573;Hs.745055 1713893;5022651;5095864;5114870 D11S2921;D17S1980;RH119377;SHGC-57390 FLJ98241;TL132 APPROVED pseudo ENSG00000233327 HGNC:30751 17321 VALIDATED 1321210 USP22 ubiquitin specific peptidase 22 ENCODES a protein that exhibits enzyme binding; H4 histone acetyltransferase activity; ligand-dependent nuclear receptor transcription coactivator activity; INVOLVED IN histone deubiquitination; histone H4 acetylation; histone ubiquitination; PARTICIPATES IN histone modification pathway; FOUND IN SAGA complex; SAGA-type complex; INTERACTS WITH pinosylvin; trans-pinosylvin; valproic acid 17 17 17 p11.2 21596363 21639730 + 20902906 20946722 - 20999593 21043409 - 1580863;6480464;9479061 24647359 10470851;11707075;12477932;12838346;15931389;16169070;16378762;18206972;18206973;18469533;18838386;19615732;19843541;20824490;21039844;21139048;21337558;21691749;21735131;21746879;21773699;21779003;21890473;21900206;21906983;21928107;21963094;21987572;22053931;22067483;22118674;22447106;22505724;22542455;22880026;23000965;23217440;23300749;23361242;23382074;23412977;23664741;23720494;23979981;24197134;24250222;24466336;24561192;24654937;24802393;24969755 23326 J3QRV6;J3QS30;K7ERX6;K7ESK0;Q9UPT9 AB028986;ABBA01050453;AC087393;AK025331;AK130677;AL049258;AL110213;AMYH02033193;AMYH02033194;BC007196;BC013364;BC025317;BC050994;BC084550;BC110499;BC126898;BX640815;NM_015276;XM_005256575 AAH07196;AAH25317;AAI10500;AAI26899;BAA83015;CAE45893;NP_056091;Q9UPT9;XP_005256632 Hs.462492 1338159;1694672;1721067;1754731;2160536;5037552 D17S689;D8S2279;G43517;G59516;SHGC-133091;SHGC-64270 KIAA1063;USP3L OTTHUMP00000164990;deubiquitinating enzyme 22;ubiquitin carboxyl-terminal hydrolase 22;ubiquitin specific peptidase 3-like;ubiquitin specific protease 22;ubiquitin thioesterase 22;ubiquitin thiolesterase 22;ubiquitin-specific processing protease 22;ubiquitin-specific-processing protease 22 protein-coding ENSG00000124422 HGNC:12621 612116 VALIDATED 6481085 USP32P4 ubiquitin specific peptidase 32 pseudogene 4 17 17 60360054 60366150 - 62282693 62288789 - 100874252 ABBA01035357;AC053481;AMYH02033761;NG_032561 pseudo HGNC:43577 INFERRED 1353275 USP35 ubiquitin specific peptidase 35 ENCODES a protein that exhibits ubiquitin-specific protease activity; INVOLVED IN protein deubiquitination; INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; quercetin 11 11 11 q14.1 75208342 75234241 + 77899858 77925757 + 78188812 78217644 + 1580863;6480464 10718198;12477932;12838346;14702039;14715245;15146197;16344560;19913121;20237496;20628086;22118674 57558 B3KPE1;E9PK78;E9PRM2;H0YEP1;Q9P2H5 AB037793;ABBA01017407;ABBA01017408;AJ586137;AK056231;AK301048;AK307875;AMYH02025146;AMYH02025147;AP002985;AX406007;BC131489;BU631962;CH471076;CN287538;DB095282;NM_020798;XR_428917;XR_428918;XR_428919;XR_428920;XR_428921 AAI31490;BAA92610;BAG51653;BAG62660;CAD35114;CAE51937;EAW75056;NP_065849;Q9P2H5 Hs.531249 2145625 D11S1067 OTTHUMP00000233044;OTTHUMP00000233045;OTTHUMP00000233047;deubiquitinating enzyme 35;ubiquitin carboxyl-terminal hydrolase 35;ubiquitin specific protease 35;ubiquitin thioesterase 35;ubiquitin thiolesterase 35;ubiquitin-specific-processing protease 35 protein-coding ENSG00000118369 HGNC:20061 PROVISIONAL 1318847 USP34 ubiquitin specific peptidase 34 ENCODES a protein that exhibits cysteine-type endopeptidase activity; ubiquitin thiolesterase activity; ubiquitin-specific protease activity; INVOLVED IN positive regulation of canonical Wnt signaling pathway; protein deubiquitination; protein K48-linked deubiquitination; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; benzo[a]pyrene 2 2 2 p15 61259053 61542286 - 61414590 61697868 - 61187455 61470714 - 6480464;8554872 12168954;12477932;12838346;14702039;14715245;15345747;15489334;17478428;20379614;21139048;21383061;21890473;21906983;21963094;22118674;22412388;22505724;22586326;22863883;22939629;23000965;23455922;23667531;24816145;9628581;9872452 9736 H7BZ73;H7C150;H7C183;Q70CQ2 AB011142;AB018272;ABBA01075349;ABBA01075350;ABBA01075351;ABBA01075352;ABBA01075353;AC016727;AC016747;AC016894;AC018889;AJ586138;AK001193;AK022637;AK023171;AK023845;AK024341;AK124932;AK125898;AK126741;AL050092;AL050376;AL831918;AMYH02003920;AMYH02003921;AMYH02003922;AMYH02003923;AMYH02003924;AMYH02003925;AMYH02003926;AMYH02003927;AW293998;BC022783;BC062325;BC107761;BC141839;BX473680;CH471053;NM_014709 AAH22783;AAH62325;AAI07762;BAA25496;BAA34449;BAG54261;CAB43264;CAD38579;CAE51938;EAW99998;NP_055524;Q70CQ2 Hs.644708 1336436;1646031;1660355;1673932;1674767;1679676;1717993;1740171;1760109;1823746;1849487;2114978;2115231;2140435;2172638;2179463;5019755;5122345;7184443 A009P16;D1S2533;D2S2701;D2S337;ECD12965;G32731;RH122613;RH16395;RH45746;RH45777;RH68436;RH68443;RH68825;RH93011;SGC31101;SHGC-107752;SHGC-34452;SHGC-44477 FLJ43910;KIAA0570;KIAA0729;MGC104459 OTTHUMP00000201402;deubiquitinating enzyme 34;ubiquitin carboxyl-terminal hydrolase 34;ubiquitin specific protease 34;ubiquitin thioesterase 34;ubiquitin thiolesterase 34;ubiquitin-specific-processing protease 34 protein-coding ENSG00000115464 HGNC:20066 11665 615295 VALIDATED 1320548 USP36 ubiquitin specific peptidase 36 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP36 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jan 2009] 17 17 17 q25.3 73390685 73434689 - 76783463 76836980 - 78787381 78840898 - 6480464 10819331;12429849;12477932;12838346;14702039;14715245;15254734;15635413;15809067;16565220;17081983;18029348;18566677;19208757;19615732;19679658;21139048;21268071;21890473;21906983;21963094;22118674;22505724;22622177;22865700;23000965;23105109;23773437;25015289;8125298 57602 E9PEW0;K7EIH0;K7EIT7;K7EJI3;K7EKL7;K7EKN3;K7ELR5;K7ELT3;K7EMM6;K7EPT1;K7EQS0;K7ERC1;K7ERP8;Q8IXW9;Q9P275;U3KQ92 AB040886;ABBA01002914;AC022966;AK001671;AK022840;AK022913;AK023077;AK225155;AK225426;AL833835;AMYH02034071;AMYH02034072;AMYH02034073;AMYH02034074;AX107033;AY169386;BC013890;BC016487;BC027992;BC038983;BC071582;CH471099;NM_025090;XM_005257542;XM_005257543;XM_005257544 AAH16487;AAH27992;AAH38983;AAH71582;AAO34133;BAA91825;BAA95977;BAB14306;BAG51124;CAC37755;CAD38695;EAW89533;EAW89534;EAW89535;EAW89536;NP_079366;Q9P275;XP_005257599;XP_005257600;XP_005257601 Hs.464243 1783514;2162112 RH44869;SHGC-149614 DUB1 deubiquitinating enzyme 1;deubiquitinating enzyme 36;ubiquitin carboxyl-terminal hydrolase 36;ubiquitin specific protease 36;ubiquitin thioesterase 36;ubiquitin thiolesterase 36;ubiquitin-specific-processing protease 36 APPROVED protein-coding ENSG00000055483 HGNC:20062 07164 612543 VALIDATED 1315889 USP37 ubiquitin specific peptidase 37 ENCODES a protein that exhibits cysteine-type endopeptidase activity; protein kinase binding; ubiquitin-specific protease activity; INVOLVED IN G1/S transition of mitotic cell cycle; protein deubiquitination; protein K11-linked deubiquitination; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH atrazine; bleomycin A5; ethyl methanesulfonate 2 2 2 q35 213081582 213200867 - 219314974 219433084 - 218450251 218568361 - 6480464;8554872 10997877;11076863;11230166;11256614;12477932;12838346;14702039;14715245;15324660;15489336;16344560;16381901;17081983;19240029;19615732;19851296;20198315;21139048;21596315;21906983;22118674;22665064;23027877;23208507;23287719;24250222;24324262 57695 Q86T82;Q86W68 AB046814;ABBA01023866;ABBA01023867;ABBA01023868;AC012510;AC073838;AK095577;AK128583;AL832645;AMYH02005792;AMYH02005793;AMYH02005794;AMYH02005795;AMYH02005796;AMYH02005797;BC037389;BC050461;BC112901;BC133007;BC133009;BC144249;BC144252;BX538024;CH471063;DB075170;NM_020935;XM_005246718;XM_005246719;XM_005246720;XM_005246721;XM_005246722;XM_005246723;XM_005246724;XM_005246725;XM_006712659;XM_006712660 AAH50461;AAI12902;AAI33008;AAI33010;AAI44250;AAI44253;AAY14887;BAB13420;CAD89955;CAD97970;CAL37807;CAL38294;EAW70621;EAW70622;EAW70623;NP_065986;Q86T82;XP_005246775;XP_005246776;XP_005246777;XP_005246778;XP_005246779;XP_005246780;XP_005246781;XP_005246782;XP_006712722;XP_006712723 Hs.166068 1646313;1675146;1740153;1744085;2152097 D2S2139;GDB:386614;RH12276;RH45036;SHGC-32398 KIAA1594;MGC117261 OTTHUMP00000164146;OTTHUMP00000207151;OTTHUMP00000207153;OTTHUMP00000207154;deubiquitinating enzyme 37;tmp_locus_50;ubiquitin carboxyl-terminal hydrolase 37;ubiquitin specific protease 37;ubiquitin thioesterase 37;ubiquitin thiolesterase 37;ubiquitin-specific-processing protease 37 protein-coding ENSG00000135913 HGNC:20063 07506 VALIDATED 1323709 USP38 ubiquitin specific peptidase 38 ENCODES a protein that exhibits ubiquitin-specific protease activity; INVOLVED IN protein deubiquitination; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; cobalt dichloride 4 4 4 141435984 141473049 + 144106070 144143141 + 143184917 143221988 + 6480464 10931946;11572484;12477932;12838346;14702039;14715245;15489334;18654987;19615732;21139048;21890473;21906983;22118674;24811749 84640 B3KSB9;H0Y9H5;Q8NB14 AB067478;ABBA01070001;AC099549;AC116175;AF211481;AK057992;AK091712;AK093289;AK093754;AK126943;AL833976;AMYH02010231;AW293752;BC017668;BC039115;BC068975;BG575871;BM053004;CH471056;NM_001290325;NM_001290326;NM_032557 AAH39115;AAH68975;AAK26248;ADR82725;BAB67784;BAB71627;BAC03730;BAG52681;BAG54405;CAD38820;EAX05075;EAX05076;EAX05077;NP_001277254;NP_001277255;NP_115946;Q8NB14 Hs.480848 1648395;1679888;1700108;2134560;2155380 RH103667;SHGC-36804;SHGC-50450;SHGC-67679;SHGC-8628 FLJ35970;HP43.8KD;KIAA1891 OTTHUMP00000220202;OTTHUMP00000220204;deubiquitinating enzyme 38;ubiquitin carboxyl-terminal hydrolase 38;ubiquitin specific protease 38;ubiquitin thioesterase 38;ubiquitin thiolesterase 38;ubiquitin-specific-processing protease 38 protein-coding HGNC:20067 15635 VALIDATED 1347295 USP3L ubiquitin specific protease 3-like 79397 HGNC:14538 1317441 USP30 ubiquitin specific peptidase 30 USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008] 12 12 12 q24.11 109114313 109149755 + 109490380 109525831 + 109047515 109088026 + 6480464;8554872 12477932;12838346;14702039;14715245;15146197;15489334;18287522;19615732;22118674;24896179;25015289 84749 B3KUS5;F5GXG2;F5H3L3;F5H8D3;Q70CQ3;S4R354;S4R3D1 AA856774;ABBA01005060;AC011596;AI867665;AJ586136;AK027820;AK097830;AL834278;AMYH02027163;AMYH02027164;AMYH02027165;AX878002;BC004868;BC022094;BG149730;BX095894;CH471054;CN367077;HY127211;NM_001301175;NM_032663;XM_005253962;XM_005253963;XM_005253965;XM_006719652;XM_006719653 AAH04868;AAH22094;ABM84327;ABM87782;BAB55392;BAG53537;CAE51936;CAE89969;EAW97842;EAW97843;EAW97844;NP_001288104;NP_116052;Q70CQ3;XP_005254019;XP_005254020;XP_005254022;XP_006719715;XP_006719716 Hs.486434;Hs.660996 1646315;1768560;1772394;2140868;2165930;5021400 D20S1119;RH45029;RH45951;RH48223;STS-D60111;WI-20815 FLJ40511;MGC10702 OTTHUMP00000164980;OTTHUMP00000164981;deubiquitinating enzyme 30;ub-specific protease 30;ubiquitin carboxyl-terminal hydrolase 30;ubiquitin specific protease 30;ubiquitin thioesterase 30;ubiquitin thiolesterase 30;ubiquitin-specific protease 30;ubiquitin-specific-processing protease 30 APPROVED protein-coding ENSG00000135093 HGNC:20065 15633 612492 VALIDATED 1344173 USP4 ubiquitin specific peptidase 4 (proto-oncogene) The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 3 3 3 p21.3 49278021 49342350 - 49314577 49377536 - 49277144 49340103 - 1580863;6480464 11461834;11571651;11571652;12477932;12838346;15489334;16169070;16196087;16316627;16339847;16344560;16403452;16472766;19367581;19615732;20141612;20307617;20595234;21139048;21145461;21331078;21522127;21890473;21900206;21906983;21931648;21963094;22001210;22029577;22118674;22195557;22262844;22347420;22626734;22706160;23000965;23022198;23105109;23128233;23313255;23388719;24270891;24816145;7784062;8125298;8183569;9464533;9827704 7375 C9JNU9;H7C189;Q08AK7;Q13107 ABBA01024595;ABBA01024596;ABBA01024597;ABBA01024598;ABBA01024599;ABBA01024600;ABBA01024601;AC121247;AF017305;AF017306;AI887410;AK127055;AK222725;AK223292;AK291795;AMYH02006748;AMYH02006749;AMYH02006750;BC068017;BC125130;BC125131;BG717217;BU632996;CH471055;DA267618;DB534804;NG_030370;NM_001251877;NM_003363;NM_199443;U20657 AAB72237;AAC27355;AAC27356;AAI25131;AAI25132;BAD96445;BAD97012;BAF84484;EAW64968;EAW64969;EAW64970;EAW64971;EAW64972;EAW64973;NP_001238806;NP_003354;NP_955475;Q13107 Hs.403828;Hs.77500 1753507;1767817;1851805;2108983;2116986;2119674;2134399;2151369;2168751;2170375;5020885;5037552 D3S3092;D8S2279;L17791;RH18550;RH41918;RH45172;SHGC-107421;SHGC-31529;SHGC-57737;STS-U20657;USP4_8707;WI-14204 MGC149848;MGC149849;UNP;Unph OTTHUMP00000210715;OTTHUMP00000210716;OTTHUMP00000210717;deubiquitinating enzyme 4;ubiquitin carboxyl-terminal esterase 4;ubiquitin carboxyl-terminal hydrolase 4;ubiquitin specific protease 4 (proto-oncogene);ubiquitin thioesterase 4;ubiquitin thiolesterase 4;ubiquitin-specific processing protease 4;ubiquitin-specific-processing protease 4;ubiquitous nuclear protein homolog APPROVED protein-coding ENSG00000114316 HGNC:12627 04598 603486 REVIEWED 5552949 USP32P3 ubiquitin specific peptidase 32 pseudogene 3 17 17 p11.1 20326774 20336345 + 20423461 20433032 + 11997339 347716 AC015818;AMYH02033185;NG_002719 1713893 RH119377 pseudo HGNC:43576 INFERRED 1320045 USP40 ubiquitin specific peptidase 40 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008] 2 2 2 q37.1 228105436 228195522 - 234384165 234475433 - 233475519 233566787 - 1580863;6480464 11673459;12045112;12477932;12838346;14702039;14715245;15489334;15815621;16917932;18029348;20302855;21139048;21646302;22412388;22923019 55230 C9JK14;H7BZ71;H7C0C4;H7C2T9;H7C307;Q9NVE5 ABBA01001948;ABBA01001949;AC019072;AC019221;AI375976;AJ583821;AK001647;AK124094;AK295112;AK297821;AL833371;AMYH02006007;AMYH02006008;AMYH02006009;AMYH02006010;BC013305;BC067300;BC086855;CH471063;NM_018218;XM_005246088;XM_005246091;XM_006712612;XR_427098 AAH67300;AAI56499;BAA91807;BAC85770;BAG58142;BAG60158;CAE47748;EAW71051;EAW71052;NP_060688;Q9NVE5;XP_005246145;XP_005246148;XP_006712675 Hs.96513 1335500;1341521;1675887;1676520;1697270;1714109;1778873;2128192;2144918 D2S2205;D2S2234;G16331;RH102130;RH119661;RH65557;RH79707;RH94290;STS-T63797 FLJ10785;FLJ42100 OTTHUMP00000216386;OTTHUMP00000237439;deubiquitinating enzyme 40;ubiquitin carboxyl-terminal hydrolase 40;ubiquitin specific protease 40;ubiquitin thioesterase 40;ubiquitin thiolesterase 40;ubiquitin-specific-processing protease 40 APPROVED protein-coding ENSG00000085982 HGNC:20069 07166 610570 VALIDATED 1317280 USP33 ubiquitin specific peptidase 33 This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] 1 1 1 p31.1 76401169 76465211 - 78161672 78225564 - 77695987 77759879 - 6480464 10470851;11739384;12056827;12477932;12838346;12865408;14702039;15489334;15996926;16169070;17452445;17766394;19118533;19322201;19363159;19424180;19615732;19684588;19699092;19706539;19832994;20724312;21139048;21801292;21906983;21963094;22118674;22626734;23000965;23166351;23486064;24056301;24196352;24377933;24855649;8125298 23032 E9PLK7;E9PP47;E9PQP0;H0YCV3;H0YD08;Q8TEY7 AB029020;ABBA01074394;ABBA01074395;ABBA01074396;ABBA01074397;AC114487;AF383172;AF383173;AI569971;AK022864;AK023664;AK225499;AK308402;AL050140;AMYH02001303;AMYH02001304;BC016663;BU631866;CH471059;DB232523;NM_015017;NM_201624;NM_201626;XM_005270648;XM_005270649 AAH16663;AAL78314;AAL78315;ABM82413;ABM85598;BAA83049;BAB14279;CAB43288;EAX06367;EAX06368;EAX06369;EAX06370;EAX06371;NP_055832;NP_963918;NP_963920;Q8TEY7;XP_005270705;XP_005270706 Hs.480597 1644394;1654622;1740735;1854942;2123182;5020242;5037552 AFM270YC9;D11S2612;D1S3233;D1S3547;D8S2279;G34884;SHGC-75033 KIAA1097;MGC16868;VDU1;hVDU1 OTTHUMP00000011234;OTTHUMP00000011330;OTTHUMP00000011331;VHL-interacting deubiquitinating enzyme 1;deubiquitinating enzyme 33;pVHL-interacting deubiquitinating enzyme 1;ubiquitin carboxyl-terminal hydrolase 33;ubiquitin specific protease 33;ubiquitin thioesterase 33;ubiquitin thiolesterase 33;ubiquitin-specific-processing protease 33 APPROVED protein-coding ENSG00000077254 HGNC:20059 10297 615146 REVIEWED 1604943 USP41 ubiquitin specific peptidase 41 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH 1-chloro-2,4-dinitrobenzene (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 22 22 22 q11.21 4205205 4231809 - 20704868 20731544 - 20363613 20390758 - 6480464;8554872 12838346;14715245;19615732 373856 H7BXK0;Q3LFD5 ABBA01015456;ABBA01015457;AC007731;AC011718;AJ583822;AJ586979;AK303463;AMYH02038075;XM_006710116;XM_006724407;XM_006726833 BAG64505;CAE47749;CAE52971;Q3LFD5;XP_006710179;XP_006724470;XP_006726896 Hs.38260 OTTHUMP00000199828;deubiquitinating enzyme 41;putative ubiquitin carboxyl-terminal hydrolase 41;ubiquitin specific protease 41;ubiquitin specific proteinase 41;ubiquitin thioesterase 41;ubiquitin thiolesterase 41;ubiquitin-specific-processing protease 41 protein-coding ENSG00000161133 HGNC:20070 MODEL 1317758 USP43 ubiquitin specific peptidase 43 ENCODES a protein that exhibits cysteine-type peptidase activity (inferred); ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH aflatoxin B1; cyclosporin A; quercetin 17 17 17 p13.1 9581209 9665448 + 9548015 9633004 + 9645537 9729687 + 1580863;6480464;8554872 12477932;12838346;14702039;14715245;16344560;19615732;20379614 124739 Q70EL4;V9GXZ5;V9GZ20 ABBA01054959;ABBA01054960;AC027045;AC118755;AJ583817;AK055188;AK090821;AMYH02032953;AMYH02032954;AMYH02032955;BC039653;BC136368;BC144041;BC171759;BX648526;CH471108;DA769847;NM_001267576;NM_153210 AAI36369;AAI44042;AAI71759;BAB70869;CAE47744;EAW90022;NP_001254505;NP_694942;Q70EL4 Hs.709621 1674989;1699624;1703496;1763815;2218640 RH103415;SHGC-147485;SHGC-82609;STS-R52786;USP43__5048 FLJ30626 deubiquitinating enzyme 43;ubiquitin carboxyl-terminal hydrolase 43;ubiquitin specific protease 43;ubiquitin thioesterase 43;ubiquitin thiolesterase 43;ubiquitin-specific-processing protease 43 protein-coding ENSG00000154914 HGNC:20072 VALIDATED 1317864 USP44 ubiquitin specific peptidase 44 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP44 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008] 12 12 12 q22 95582001 95617069 - 95910336 95945278 - 95516560 95551487 - 1580863;6480464;9479061;8661242 24002223;24647359 11076863;11230166;11256614;12477932;12838346;14702039;14715245;15489334;15489336;16344560;16381901;17443180;19615732;20402667;21853124;22041458;22692537;23615962 84101 F8VRI7;F8VRW0;F8VVD6;Q9H0E7 AA101229;ABBA01053333;ABBA01053334;ABBA01053335;AC018475;AK027434;AK315697;AL136825;AMYH02026981;AMYH02026982;BC030704;BI458616;BM023146;CH471054;DA092275;DB096497;DB443014;DB454726;DB456039;DB462518;HY021046;NM_001042403;NM_001278393;NM_032147;NR_125360;XM_005269172;XM_005269173;XM_005269174;XM_006719628;XM_006719629 AAH30704;ABM81771;ABM84925;ACE86848;ACE87535;BAG38060;CAB66759;CAL37419;EAW97540;EAW97541;EAW97542;NP_001035862;NP_001265322;NP_115523;Q9H0E7;XP_005269229;XP_005269230;XP_005269231;XP_006719691;XP_006719692 Hs.646421;Hs.710121 1671061;1677008;1690752;1736250;1856912;2124156;2127911;2174182 D12S1183E;D12S1199E;RH39871;RH93395;SGC31600;SHGC-64320;STS-N33173;WI-21736 DKFZp434D0127;FLJ14528 OTTHUMP00000243405;OTTHUMP00000243406;OTTHUMP00000243408;deubiquitinating enzyme 44;ubiquitin carboxyl-terminal hydrolase 44;ubiquitin specific protease 44;ubiquitin thioesterase 44;ubiquitin thiolesterase 44;ubiquitin-specific-processing protease 44 APPROVED protein-coding ENSG00000136014 HGNC:20064 15636 610993 VALIDATED 1315395 USP32 ubiquitin specific peptidase 32 ENCODES a protein that exhibits ubiquitin thiolesterase activity; INVOLVED IN metabolic process (inferred); protein deubiquitination (inferred); ubiquitin-dependent protein catabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN Golgi apparatus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; afimoxifene 17 17 17 q23.3 54714573 54774210 - 58254551 58469586 - 60177330 60392225 - 6480464;8554872 10508479;12477932;12604796;12838346;14702039;17081983;19615732;20379614;20467438;20549504;21145461;21890473;21906983;22118674;23105109;24816145 84669 K7EII4;K7EKK3;K7EKZ1;K7EL53;K7EN13;K7ENU6;K7EPL4;K7EQL6;Q8NFA0 ABBA01035410;ABBA01035411;ABBA01035412;ABBA01035413;ABBA01035414;ABBA01035415;ABBA01035416;ABBA01035417;AC003962;AC025048;AC037475;AC104763;AF155116;AF350251;AF533230;AK057301;AK091680;AMYH02033721;AMYH02033722;AY163319;BC054344;BC070497;BC094680;BI459907;CH471109;NM_032582 AAD42882;AAH54344;AAH70497;AAH94680;AAI56265;AAK30207;AAM97922;AAO21353;EAW94356;EAW94357;EAW94358;NP_115971;Q8NFA0 Hs.132868 1340430;1693676;1732964;1754601;2120676;2154227;2177264;2177385;5114870;7185369 AFMa274wh5;D17S2128;D17S923;D1S1350;RH44395;SHGC-132932;SHGC-57390;SHGC-58603;STS-N68447 NY-REN-60;USP10 deubiquitinating enzyme 32;renal carcinoma antigen NY-REN-60;ubiquitin carboxyl-terminal hydrolase 32;ubiquitin specific protease 32;ubiquitin thioesterase 32;ubiquitin thiolesterase 32;ubiquitin-specific-processing protease 32 protein-coding HGNC:19143 07612 607740 VALIDATED 6484002 USP46-AS1 USP46 antisense RNA 1 INTERACTS WITH all-trans-retinoic acid 4 4 4 q12 51018802 51023636 + 53525586 53527665 + 52659419 52661498 + 6480464 15146197 643783 AA405370;ABBA01003378;AC026448;AI311122;AMYH02009207;BX354350;CN313378;NR_125363;XR_110056;XR_112636;XR_171454 Hs.631514 APPROVED ncrna ENSG00000248866 HGNC:43991 VALIDATED 1313136 USP42 ubiquitin specific peptidase 42 ENCODES a protein that exhibits ubiquitin-specific protease activity; INVOLVED IN protein deubiquitination; INTERACTS WITH 2-methylcholine; copper(2+) sulfate; cyclosporin A 7 7 7 p22.1 6533917 6590564 - 6144550 6201195 + 6088790 6161564 + 1580863;6480464 12477932;12690205;12838346;14702039;14715245;15302935;15489334;17081983;18029348;19615732;20467438;20618440;21139048;21890473;22085928;22118674;22779921;24673627;8889548 84132 B4DP25;C9JPC9;E5RJP3;E7EWZ4;F8WD92;Q9H9J4 AA936550;ABBA01029359;AC004895;AJ601395;AK022759;AK298164;AK301527;AK309375;AMYH02015166;AMYH02015167;AY618868;BC060846;BC132862;BC136656;BF725643;BM980885;BM995466;BU187025;BU567897;CH236963;CH878731;DB457216;DR001777;NM_032172;XM_005249882;XM_005249883;XM_006715790;XM_006715791 AAH60846;AAI32863;AAT67238;BAB14232;BAG60437;BAG63029;CAE53097;EAL23715;EAL23716;EAW55047;EAW55048;NP_115548;Q9H9J4;XP_005249939;XP_005249940;XP_006715853;XP_006715854 Hs.31856 1699584;1858265;2154944;2175318;2187450;5022041;5106525 G38319;GDB:1318583;GDB:4585123;RH103393;RH78626;STS-W02789;USP42 FLJ12697 OTTHUMP00000200707;OTTHUMP00000225049;OTTHUMP00000225050;deubiquitinating enzyme 42;ubiquitin carboxyl-terminal hydrolase 42;ubiquitin specific protease 42;ubiquitin thioesterase 42;ubiquitin thiolesterase 42;ubiquitin-specific-processing protease 42 protein-coding ENSG00000106346 HGNC:20068 VALIDATED 1322181 USP45 ubiquitin specific peptidase 45 ENCODES a protein that exhibits ubiquitin-specific protease activity; INVOLVED IN protein deubiquitination; INTERACTS WITH formaldehyde; manganese atom; manganese(0) 6 6 6 q16.2 100524338 100607389 - 99880182 99963565 - 99432306 99515776 - 1580863;6480464 12477932;12838346;14574404;14702039;14715245;15489334;15761153;19615732;21890473;22118674;23000965 85015 D6RBV3;D6RC01;D6RE98;E2QRF0;H0Y8J5;H0Y8Q0;H0Y986;H0YA21;Q70EL2 ABBA01014480;ABBA01014481;AJ583819;AK123299;AK310643;AL137784;AL513550;AL713747;AL832030;AL832037;AL832040;AMYH02014182;AMYH02014183;AMYH02014184;AMYH02014185;BC005991;BC150648;BC157838;CH471051;NM_001080481;XM_005267169;XM_005267170;XM_005267171;XM_005267172;XM_005267173;XM_005267174;XM_005267175 AAH05991;AAI50649;AAI56219;AAI57839;AAI72477;CAD89915;CAD91148;CAE47746;CAI46150;CAI46152;EAW48471;EAW48473;EAW48474;NP_001073950;Q70EL2;XP_005267226;XP_005267227;XP_005267228;XP_005267229;XP_005267230;XP_005267231;XP_005267232 Hs.143410 1670699;1682227;1685003;1728395;1760271;1764069;2163530;2174351;2218864 D6S1189E;G63480;RH18455;RH79595;RH92889;SHGC-132588;SHGC-147725;SHGC-36326;USP45__5049 MGC14793 OTTHUMP00000016894;OTTHUMP00000221080;OTTHUMP00000221081;deubiquitinating enzyme 45;ubiquitin carboxyl-terminal hydrolase 45;ubiquitin specific protease 45;ubiquitin thioesterase 45;ubiquitin thiolesterase 45;ubiquitin-specific-processing protease 45 protein-coding ENSG00000123552 HGNC:20080 PROVISIONAL 1601875 USP49 ubiquitin specific peptidase 49 ENCODES a protein that exhibits cysteine-type endopeptidase activity; histone binding; ubiquitin thiolesterase activity; INVOLVED IN histone H2B conserved C-terminal lysine deubiquitination; mRNA splicing, via spliceosome; protein deubiquitination; FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; copper atom; copper(0) 6 6 6 p21 43318714 43416439 - 41757634 41863099 - 41789896 41895361 - 6480464 12477932;12584197;14576168;14702039;14715245;15489334;18029348;19615732;20139978;23105109;23263863;23824326 25862 A6PVU3;H7BZI7;Q5T3E1;Q70CQ1 ABBA01050745;ABBA01050746;ABBA01050747;AJ586139;AK023682;AL110255;AL160163;AL365205;AMYH02013611;AMYH02013612;AMYH02013613;AMYH02013614;BC014176;BU631853;CH471081;DN992189;EF565089;NM_001286554;NM_018561 AAH14176;ADZ15760;CAE51939;EAX04065;NP_001273483;NP_061031;Q70CQ1 Hs.593575;Hs.665742 MGC20741 OTTHUMP00000016386;OTTHUMP00000016387;OTTHUMP00000196413;deubiquitinating enzyme 49;ubiquitin carboxyl-terminal hydrolase 49;ubiquitin specific protease 49;ubiquitin thioesterase 49;ubiquitin thiolesterase 49;ubiquitin-specific-processing protease 49 protein-coding ENSG00000164663 HGNC:20078 10075 VALIDATED 1603172 USP51 ubiquitin specific peptidase 51 ENCODES a protein that exhibits ubiquitin-specific protease activity; INVOLVED IN protein deubiquitination; INTERACTS WITH atrazine; fonofos; methyl methanesulfonate X X X p11.21 59350733 59355315 - 55511049 55516301 - 55484616 55489868 - 6480464 10737800;12477932;12838346;14715245;15028280;15060002;15489334;15772651;18029348;22626734 158880 Q70EK9 ABBA01069523;AI934832;AJ583823;AL590410;AMYH02039511;AMYH02039512;BC035907;BC131541;BN000340;BU101641;NG_021371;NM_201286;XM_005261992;XM_005261993 AAH35907;AAI72281;CAE47750;CAE48396;NP_958443;Q70EK9;XP_005262049;XP_005262050 Hs.40061;Hs.607524 1702500;1852882 DXS1302;RH36391 OTTHUMP00000217965;deubiquitinating enzyme 51;ubiquitin carboxyl-terminal hydrolase 51;ubiquitin thioesterase 51;ubiquitin thiolesterase 51;ubiquitin-specific-processing protease 51 protein-coding ENSG00000247746 HGNC:23086 07167 VALIDATED 1343119 USP50 ubiquitin specific peptidase 50 ENCODES a protein that exhibits ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); INTERACTS WITH cadmium atom 15 15 15 q21.1 27685337 27731467 - 50792759 50838902 - 50500562 50546705 - 6480464 12838346;14715245;15060002;19615732;20379614;20930503 373509 H0YDN5;H0YNB9;Q70EL3 ABBA01039109;ABBA01039110;ABBA01039111;AC012170;AJ583818;AMYH02030407;AMYH02030408;AMYH02030409;AMYH02030410;AMYH02030411;BN000339;CH471082;DB448810;DB451236;DB513975;NM_203494;XM_005254358 AAI40416;AAI46494;CAE47745;CAE48395;EAW77403;NP_987090;Q70EL3;XP_005254415 Hs.677758 2186780 RH45725 OTTHUMP00000236284;inactive ubiquitin carboxyl-terminal hydrolase 50;inactive ubiquitin-specific peptidase 50;ubiquitin specific protease 50 protein-coding ENSG00000170236 HGNC:20079 15639 VALIDATED 1344409 USP46 ubiquitin specific peptidase 46 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jun 2009] 4 4 4 q12 50953085 51021473 - 53457126 53525502 - 52590960 52659335 - 6480464;8554872 12477932;12838346;14702039;14715245;15342556;15489334;19075014;19260141;19615732;20111060;20147737;21139048;21183687;21663972;22043315;22118674;22391563;8619474;9110174 64854 D6R9Z4;D6RIX7;H7BZK6;P62068 ABBA01003377;ABBA01003378;AC026448;AF070557;AK021861;AK021912;AK022614;AK024318;AK024345;AK096712;AK296493;AK299883;AK302438;AMYH02009206;AMYH02009207;BC037574;BP371221;BU620990;CH471057;CN483539;GU455414;KF510254;NM_001134223;NM_001286767;NM_001286768;NM_022832 AAH37574;ABM87763;ABW03598;ADV57651;BAB14133;BAB14881;BAH12373;BAH13161;BAH13709;EAX05434;EAX05435;NP_001127695;NP_001273696;NP_001273697;NP_073743;P62068 Hs.7966 1655438;1691262;1753359;1778627;2139930;2139932;2183015;2187335;5022578;5109663 A002A30;D1S1423;D7S2067E;G11823;G19858;SHGC-107185;SHGC-50294;SHGC-8627;STS-N90897;STS-T67163 FLJ11850;FLJ12552;FLJ14283;FLJ39393 OTTHUMP00000218637;OTTHUMP00000218639;OTTHUMP00000218641;deubiquitinating enzyme 46;ubiquitin carboxyl-terminal hydrolase 46;ubiquitin specific protease 46;ubiquitin thioesterase 46;ubiquitin thiolesterase 46;ubiquitin-specific-processing protease 46 APPROVED protein-coding ENSG00000109189 HGNC:20075 07507 612849 VALIDATED 1318206 USP5 ubiquitin specific peptidase 5 (isopeptidase T) Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010] 12 12 12 p13 8578571 8593082 + 6961285 6975796 + 6852121 6866632 + 1580863;6480464;8554872 11337467;11771738;12427038;12435595;12477932;12838346;14718574;15096053;15146197;15231748;15489334;15852347;16007098;16189514;16196087;16564012;16712842;16964243;17148452;17550899;17980597;18029348;18482987;18781797;19013454;19098288;19156909;19285159;19373254;19471022;19615732;20622874;20639865;21139048;21252943;21832049;21890473;21906983;21963094;21976412;21987572;22053931;22079093;22118674;22216260;22283393;22428841;22451720;22505724;22586326;22626734;22863883;22878415;22939629;23000965;23105109;23287719;23314748;23375434;23751493;24454762;24654937;24816145;25015289;25027693;7498549;7578059;7851534;8723724;8841133;9074930;9827704 8078 F5H571;P45974 ABBA01017662;AI289395;AK308021;AMYH02025956;AU099996;BC004889;BC005139;CH471116;CN276110;KC877513;NM_001098536;NM_003481;U35116;U47924;U47927;X91349 AAA78934;AAB51314;AAB51315;AAC50465;AAH04889;AAH05139;ABM83956;ABM87273;CAA62690;EAW88724;EAW88725;EAW88726;EAW88727;NP_001092006;NP_003472;P45974 Hs.631661 1650682;1776040;2141171;2191761;2218870 MARC_7181-7182:996687603:1;RH48309;RH78311;SHGC-32489;USP5__5052 ISOT OTTHUMP00000240481;OTTHUMP00000240482;deubiquitinating enzyme 5;isopeptidase T;ubiquitin carboxyl-terminal hydrolase 5;ubiquitin isopeptidase T;ubiquitin specific protease 5 (isopeptidase T);ubiquitin thioesterase 5;ubiquitin thiolesterase 5;ubiquitin-specific protease-5 (ubiquitin isopeptidase T);ubiquitin-specific-processing protease 5 APPROVED protein-coding ENSG00000111667 HGNC:12628 03265 601447 VALIDATED 1315332 USP53 ubiquitin specific peptidase 53 ENCODES a protein that exhibits ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; copper atom 4 4 4 q26 117495374 117578263 + 120133775 120216673 + 119212627 119295518 + 1334457;6480464;8554872 14715245 10718198;12477932;14702039;15489334;15851553;16189514;16344560;19615732;20332099;20936779;21988832;22118674;23159851;23322567 54532 D6RF54;H0Y8Q1;Q70EK8;Q9H9I0 AB037771;ABBA01044703;ABBA01044704;ABBA01044705;ABBA01044706;AC092656;AF085848;AJ583824;AK022799;AK025233;AK025301;AMYH02009987;AMYH02009988;AMYH02009989;BC017382;BC062741;BQ019723;BX648339;CD721951;CH471229;CR749490;DA859085;DA886370;KF457806;KF457812;NM_019050;XM_005263073;XM_005263074;XM_005263075;XM_005263076;XM_005263077;XM_005263078;XM_006714240 AAH17382;AAI48590;BAA92588;BAB14249;CAE47751;CAH18315;EAW73664;NP_061923;Q70EK8;XP_005263130;XP_005263131;XP_005263132;XP_005263133;XP_005263134;XP_005263135;XP_006714303 Hs.431081;Hs.595368 1338289;1645153;1671155;1691150;1778532;2141302;2183196;5014063;5022578;7185595 D15S1390;D1S1423;D4S402;RH16578;RH45125;RH99090;SHGC-14338;SHGC-33542;SHGC-67633 DKFZp781E1417 OTTHUMP00000220059;inactive ubiquitin carboxyl-terminal hydrolase 53;inactive ubiquitin-specific peptidase 53;ubiquitin specific protease 53;ubiquitin specific proteinase 53 protein-coding ENSG00000145390 HGNC:29255 11669 VALIDATED 1317682 USP39 ubiquitin specific peptidase 39 ENCODES a protein that exhibits ubiquitinyl hydrolase activity (inferred); zinc ion binding (inferred); INVOLVED IN cell division (inferred); mRNA processing (inferred); RNA splicing (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN spliceosomal complex (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; lead(0); lead(2+) 2 2 2 p11.2 85671566 85704705 + 85829965 85876407 + 85602842 85649284 + 6480464;6907045 10022888;10810093;11350945;11971955;12477932;12838346;14702039;15489334;15761153;16344560;17081983;17353931;17643375;18728397;18976975;19471022;19615732;19738201;20195357;20360068;20379614;21139048;21145461;21693764;21832049;22174317;22678362;22751105;22939629;23105109;23602568;24126978;24250222;24270891;24550385;24654937;25027693;8125298 10713 B3KMG1;B3KPG7;B7Z7L9;B9A018;C9J0X5;C9JIU2;F8WC91;Q53GS9 ABBA01075761;ABBA01075762;ABBA01075763;ABBA01075764;ABBA01075765;AC012454;AC016753;AF130096;AF132955;AF161450;AF353989;AI201523;AK001047;AK001772;AK056334;AK057698;AK129872;AK222852;AK289451;AK295257;AK302236;AK309485;AL117416;AL519827;AMYH02004184;AMYH02004185;AMYH02004186;BC001384;BC067273;BX462623;CH471053;DA548921;DB124294;DB444135;NM_001256725;NM_001256726;NM_001256727;NM_001256728;NM_006590;NR_046347;XM_006711922;XM_006711923 AAD27730;AAF29010;AAG35521;AAH01384;AAH67273;AAK49524;BAD96572;BAF82140;BAG50852;BAG50973;BAG51679;BAG58246;BAH13655;EAW99490;EAW99491;EAW99492;EAW99493;EAW99494;NP_001243654;NP_001243655;NP_001243656;NP_001243657;NP_006581;Q53GS9;XP_006711985;XP_006711986 Hs.654745 2129070;2156143;2218862;5037552 D8S2279;STS-F10170;USP39__5047;WI-20582 65K;CGI-21;FLJ33136;HSPC332;MGC75069;SAD1;SNRNP65 OTTHUMP00000203102;OTTHUMP00000203269;OTTHUMP00000203271;OTTHUMP00000203272;OTTHUMP00000203273;SAD1 homolog;SnRNP assembly defective 1 homolog;U4/U6.U5 tri-snRNP-associated 65 kDa protein;U4/U6.U5 tri-snRNP-associated protein 2;inactive ubiquitin-specific peptidase 39;small nuclear ribonucleoprotein 65kDa (U4/U6.U5);ubiquitin specific protease 39 protein-coding ENSG00000168883 HGNC:20071 07165 611594 VALIDATED 1343407 USP54 ubiquitin specific peptidase 54 ENCODES a protein that exhibits ubiquitinyl hydrolase activity (inferred); INVOLVED IN ubiquitin-dependent protein catabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; coumestrol 10 10 10 q22.2 68542895 68621030 - 75257296 75335433 - 73497538 73591342 - 1334457;6480464;8554872 14715245 12477932;14702039;15146197;15164054;16385451;16713569;19302785;21139048;21906983;22118674;24255178;24639526 159195 E7EW90;H7C1E9;H7C296;Q70EL1;R4GN32;X6RGF2;X6RH50;X6RHN7 ABBA01020319;ABBA01020320;ABBA01020321;ABBA01020322;ABBA01020323;AJ583820;AK094637;AK123711;AK126497;AK127213;AK127267;AK302598;AK303633;AL359074;AL832102;AMYH02023336;BC026037;BC064967;BC110845;BC130633;BX649087;CH471083;CN288586;NM_152586;XM_005269578;XM_005269582;XM_006717645;XM_006717646;XM_006717647;XM_006717648;XM_006717649;XM_006717650;XM_006717651;XM_006717652;XM_006717653;XM_006717654;XR_428699 AAH64967;AAI30634;BAC04393;BAC86566;BAC86886;BAC86907;BAG53943;BAG64641;BAH13757;CAE47747;EAW54502;EAW54503;EAW54504;NP_689799;Q70EL1;XP_005269635;XP_005269639;XP_006717708;XP_006717709;XP_006717710;XP_006717711;XP_006717712;XP_006717713;XP_006717714;XP_006717715;XP_006717716;XP_006717717 Hs.657355 1679541;1731080;1744343;2126695;5024039;5037552 D10S290;D16S325;D8S2279;GDB:451754;RH92705;UniSTS:495255 C10orf29;FLJ37318;bA137L10.3;bA137L10.4 OTTHUMP00000196457;inactive ubiquitin carboxyl-terminal hydrolase 54;inactive ubiquitin-specific peptidase 54;ubiquitin specific protease 54;ubiquitin specific proteinase 54 protein-coding ENSG00000166348 HGNC:23513 15641 PROVISIONAL 7177545 USP6NL-IT1 USP6NL intronic transcript 1 (non-protein coding) 10 10 11606123 11615495 - 11564124 11573496 - 6480464 100507213 ABBA01034688;AL590416;AMYH02022127;XR_109008;XR_171839;XR_247492 1683495;2126285 RH46310;RH80200 ncrna HGNC:44704 MODEL 1346560 USP6 ubiquitin specific peptidase 6 ENCODES a protein that exhibits calmodulin binding; ubiquitin-specific protease activity; INVOLVED IN protein deubiquitination; regulation of vesicle-mediated transport; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; plasma membrane; recycling endosome; INTERACTS WITH copper(2+) sulfate; dimethylarsinic acid; valproic acid 17 17 17 p13 5049321 5095969 + 5031687 5078327 + 5128392 5175029 + 1580863;6480464;8554872 12477932;12604796;12612085;12838346;1349106;14521938;15026324;15509545;15509780;1565468;15735689;16099424;16127172;16555005;16713569;16923123;17701273;18187620;18265974;19060904;19077034;19615732;20418905;21832049;22188517;23748914;23769422;24742829;8247125;8406013;8471161;9827704 9098 P35125;Q15635 AB449915;ABBA01054795;ABBA01054796;AC012146;AMYH02032844;AY143550;AY163314;BC029495;BX647719;KF456231;NM_004505;X63546;X63547;X63596;X71370;XM_005256845 AAN38838;AAO21348;BAH16658;CAA45108;CAA45109;CAA45110;CAA45111;CAB94196;NP_004496;P35125;XP_005256902 Hs.448851 5091259;5095864;5114870 D17S1542;D17S1980;SHGC-57390 HRP1;TRE17;TRE2;TRESMCR;Tre-2;USP6-short OTTHUMP00000125301;TBC1D3 and USP32 fusion;TRE oncogene, Smith Magenis syndrome chromosome region;deubiquitinating enzyme 6;hyperpolymorphic gene 1;proto-oncogene TRE-2;tre-2 oncogene;ubiquitin carboxyl-terminal hydrolase 6;ubiquitin specific peptidase 6 (Tre-2 oncogene);ubiquitin specific peptidase 6-;ubiquitin specific protease 6 (Tre-2 oncogene);ubiquitin thioesterase 6;ubiquitin thiolesterase 6;ubiquitin-specific protease USP6;ubiquitin-specific-processing protease 6 APPROVED protein-coding ENSG00000129204 HGNC:12629 06827 604334 VALIDATED 1323420 USP6NL USP6 N-terminal like ENCODES a protein that exhibits Rab GTPase activator activity; Rab GTPase binding; INVOLVED IN Golgi organization; plasma membrane to endosome transport; positive regulation of GTP catabolic process; PARTICIPATES IN platelet-derived growth factor signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasmic vesicle; plasma membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; calcitriol; formaldehyde 10 10 10 p13 11431129 11582310 - 11502509 11653679 - 11460510 11611680 - 1580863;6480464;6484113;8554872 11076863;11099046;12399475;12477932;14521938;15144186;15152255;15489334;15489336;16381901;17081983;17371873;17562788;17646400;17684057;19077034;20379614;21139048;21832049;23000965;23251661;24550385;7584026;7584028;8700515;8700527;8889548 9712 Q92738;Q96FW8;V9GYH2;X6RAB3 AA741061;AB449916;ABBA01034688;ABBA01034689;ABBA01034690;ABBA01034691;ABBA01034692;AK292944;AL512631;AL590416;AMYH02022125;AMYH02022126;AMYH02022127;BC010351;BC042943;CF121539;CH471072;D13644;DB457665;HY012494;NM_001080491;NM_014688;NR_125732;XM_006717542;XR_109008;XR_171839;XR_247492 AAH10351;AAH42943;BAA02807;BAF85633;BAH16659;CAL37548;CAL37976;CAL38244;CAL38532;EAW86344;NP_001073960;NP_055503;Q92738;XP_006717605 Hs.498661;Hs.688100 1648489;1683495;1718235;2118482;2126285;2176627;2177258;2182368;2218872 D10S2183;RH122887;RH25258;RH46310;RH48374;RH80200;SHGC-30535;STS-D13644;USP6NL__5055 KIAA0019;RN-tre;RNTRE;TRE2NL;USP6NL-IT1 OTTHUMP00000019080;USP6 N-terminal-like protein;USP6NL intronic transcript 1 (non-protein coding);related to the N terminus of tre;related to the N-terminus of tre protein-coding ENSG00000148429 HGNC:16858 605405 VALIDATED 1350484 USP8P1 ubiquitin specific peptidase 8 pseudogene 1 6 6 6 p21.33 32842032 32845201 + 31243351 31246528 + 31275574 31278751 + 19851445 100287272 ABBA01038073;AL662833;AL671883;AL845443;AMYH02013447;BX248310;BX927178;CR388229;CR759828;NG_028817 1701586;2175850 RH104427;RH25289 D84394.7;USP8P APPROVED pseudo HGNC:13987 INFERRED 1315800 USP7 ubiquitin specific peptidase 7 (herpes virus-associated) ENCODES a protein that exhibits cysteine-type endopeptidase activity; p53 binding; protein C-terminus binding; INVOLVED IN maintenance of DNA methylation; negative regulation of NF-kappaB transcription factor activity; protein deubiquitination; PARTICIPATES IN p53 signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytosol; nucleus; INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene diol epoxide I 16 16 16 p13.3 9152724 9223882 - 8985951 9057341 - 8892094 8963484 - 1580863;2316155;6480464;6484113;8554872 19450511 11279055;11923872;12093161;12507430;12783858;12838346;14506283;14676191;15053880;15058298;15247261;15302935;15494000;15749019;15808506;15916963;15942648;16111684;16160161;16402859;16474402;16713569;16845383;16943424;16964248;17268548;17353931;17380154;17442268;17525743;17651432;17927229;17936559;18330356;18410486;18418047;18566590;18590780;18716620;18729074;18833293;18952891;19124652;19193609;19470478;19471022;19615732;19834552;20153724;20379614;20562859;20601937;20622874;20713061;20719947;20800574;20816748;20855462;20874444;20885946;20930542;21045206;21081666;21139048;21145461;21170034;21252943;21258371;21268065;21305000;21319273;21468692;21468693;21480003;21490432;21549307;21745816;21845734;21890473;21906983;21949651;21963094;21981925;21988832;22032989;22072716;22072767;22084066;22118674;22195557;22325352;22361354;22411829;22438555;22466611;22505724;22514345;22586326;22626734;22634009;22750444;22797925;22863774;22863883;22875967;22901115;22902626;22939629;22993145;23000965;23022380;23089923;23105109;23183427;23208507;23267096;23287719;23297342;23348568;23388826;23452853;23483195;23524849;23536002;23602568;23603909;23667531;23751493;23752268;23760561;23775119;24013172;24063548;24072712;24190967;24270891;24317448;24332808;24457600;24654937;24811749;24816145;24823443;24832601;25015289;25027693;25118285;9034339;9130697;9827704;9847347;9925944 7874 B7Z855;B7ZAX6;F5H2X1;H3BMF6;H3BND8;H3BQD1;H3BRA2;H3BRI4;H3BTM1;H3BUV0;H3BVA7;I3L2D8;Q6U8A4;Q93009 ABBA01019732;AC022167;AK302481;AK302771;AK302872;AK302912;AK316441;AMYH02031410;AMYH02031411;AY376241;CH471112;HC309806;NM_001286457;NM_001286458;NM_003470;Z72499 AAI66690;AAQ82908;BAH13721;BAH13801;BAH13828;BAH13841;BAH14812;CAA96580;CBJ21210;EAW85194;EAW85195;NP_001273386;NP_001273387;NP_003461;Q93009 Hs.386939 1644912;1679595;1684391;1687848;1690552;1705596;1739981;1797028;2164441;5114114 D16S3010;RH64928;RH65018;RH65057;RH65086;RH65300;RH80190;SHGC-61120;SHGC-83906;USP7_1808 TEF1 HAUSP;Herpes virus-associated ubiquitin-specific protease;deubiquitinating enzyme 7;herpesvirus-associated ubiquitin-specific protease;ubiquitin carboxyl-terminal hydrolase 7;ubiquitin specific protease 7 (herpes virus-associated);ubiquitin thioesterase 7;ubiquitin-specific-processing protease 7 protein-coding ENSG00000187555 HGNC:12630 03950 602519 VALIDATED 4109231 USP9YP10 ubiquitin specific peptidase 9, Y-linked pseudogene 10 Y Y 20987993 20991374 + 18826107 18829488 + 9847074 100421222 AC007379;NG_004636 1730039 DYS205 pseudo HGNC:38454 VALIDATED 1603480 USP9YP1 ubiquitin specific peptidase 9, Y-linked pseudogene 1 Y Y q11.221 20702780 20706118 + 18540894 18544232 + 12815422;9847074 387362 AC022486;NG_004636 APPROVED pseudo HGNC:31741 VALIDATED 1606030 USP9X ubiquitin specific peptidase 9, X-linked This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] X X X p11.4 45085646 45236596 + 40944727 41095832 + 41085615 41236579 + 6480464;8699517;8554872 10620020;10737800;11278995;12477932;12617843;14676191;14742711;14743216;15203218;15592455;15607950;15772651;16306228;16322459;16344560;16964243;17038327;17081983;17110338;17267499;17353931;18254724;18303054;18410486;18781797;19135894;19341794;19380743;19508998;19913121;19946888;20005844;20023629;20305814;20339350;20628086;20811636;21081666;21139048;21145461;21173155;21248063;21566062;21693764;21890473;21906983;21907705;21987572;22053931;22065755;22118674;22371489;22544753;22586326;22699621;22863883;22895071;22939629;22952844;22990118;23000965;23097624;23112048;23171055;23184937;23287719;23443559;23455922;23524849;23602568;23667531;23690623;23752268;23956138;24163370;24239288;24255178;24337577;24591637;24607389;24785407;24816145;25028367;25036637;8619474;8922996;9110174;9722616;9827704 8239 H7C5R3;Q6P468;Q86X58;Q93008 AA261797;AB209666;ABBA01046711;ABBA01046712;ABBA01046713;ABBA01046714;ABBA01046715;ABBA01046716;ABBA01046717;ABBA01046718;ABBA01046719;ABBA01046720;ABBA01046721;ABBA01046722;ABBA01046723;ABBA01046724;ABBA01046725;ABBA01046726;ABBA01046727;ABBA01046728;ABBA01046729;ABBA01046730;ABBA01046731;AC006121;AF070645;AJ012078;AK294828;AL109797;AL391259;AMYH02039200;AMYH02039201;AMYH02039202;AMYH02039203;AW183065;BC014792;BC046205;BC054861;BC063645;BE925861;BX956755;CD619095;CH471141;DA854185;HG512500;NG_012547;NM_001039590;NM_001039591;X98296;XM_005272675;XM_005272676 AAC25395;AAH46205;AAH63645;AAI72429;BAD92903;BAG57940;CAA66942;EAW59406;EAW59407;EAW59408;EAW59409;EAW59410;EAW59411;EAW59412;NP_001034679;NP_001034680;Q93008;XP_005272732;XP_005272733 Hs.77578 1672052;1700734;1702670;1740649;1745993;1852144;2124698;2126606;2129072;2136249;2141914;2157986;2182708;2183951;2190855;2218134;2220296;5092366;5118444 D11S3316;D20S998;DFFR;DXS1454;DXS7601;DXS9725;G34982;G49472;PLP1;RH103992;RH125670;RH47975;RH48141;RH70211;SGC30689;SHGC-34697;STS-N26828;USP9X_3261;WI-11070 DFFRX;FAF;FAM;MRX99;RP5-1172N10.4;hFAM Drosophila fat facets related, X-linked;OTTHUMP00000023142;OTTHUMP00000216101;deubiquitinating enzyme FAF-X;fat facets in mammals;fat facets protein related, X-linked;fat facets protein-related, X-linked;probable ubiquitin carboxyl-terminal hydrolase FAF-X;ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila);ubiquitin thioesterase FAF-X;ubiquitin thiolesterase FAF-X;ubiquitin-specific processing protease FAF-X;ubiquitin-specific protease 9, X chromosome;ubiquitin-specific-processing protease FAF-X APPROVED protein-coding ENSG00000124486 HGNC:12632 02091 300072;300919 REVIEWED 4108559 USP9YP11 ubiquitin specific peptidase 9, Y-linked pseudogene 11 Y Y 26082810 26086249 + 23936663 23940102 + 100421224 AC073893;NG_004755 pseudo HGNC:38460 VALIDATED 6480979 USP9YP12 ubiquitin specific peptidase 9, Y-linked pseudogene 12 Y Y 26093112 26093270 - 23946965 23947123 - 100874382 ABBA01000444;AC073893;NG_032211 pseudo HGNC:38720 INFERRED 5685721 USP9YP13 ubiquitin specific peptidase 9, Y-linked pseudogene 13 Y Y 26066052 26066270 + 23919905 23920123 + 9847074 100861434 ABBA01000444;AC073893;NG_032005 pseudo HGNC:38721 INFERRED 1312730 USP8 ubiquitin specific peptidase 8 This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 15 15 15 q21.2 27609144 27685855 + 50716579 50793280 + 50424377 50501083 + 1580863;6480464;6907045;8554872 10982817;11500497;12176364;12477932;12773374;12838346;13129930;14661020;14702039;15161933;15314180;15324660;15342353;15489334;15778465;16120644;16341674;16344560;16520378;16771824;17035239;17121848;17210635;17353931;17711858;17720156;17979178;18029348;18329369;18388320;19302785;19427866;19608861;19615732;19684015;20736164;20876529;21139048;21448666;21828287;22118674;22195557;22253573;22626734;22779921;22841719;22863883;22939629;23153581;23287719;23297398;23333852;23477725;23748694;23750007;24255178;24270891;24344018;24378640;24482476;24816145;24825905;24828152;7584044;8889548;9582025;9628861;9827704 9101 A8K8N5;B3KRK3;H0YKV1;H0YLH2;H0YLS3;H0YM17;H0YM47;H0YNL5;P40818;Q05DF5 AA399951;AA399952;AA773713;ABBA01039111;ABBA01039112;ABBA01039113;AC012170;AI276208;AK091775;AK292400;AK296480;AK300590;AMYH02030403;AMYH02030404;AMYH02030405;AMYH02030406;AMYH02030407;BC015545;BC026954;BC038801;BC051345;BC062694;BC092443;BC110590;BM751645;BX537420;CA312140;CH471082;D29956;DA112964;KF459553;NM_001128610;NM_001283049;NM_005154;XM_006720761;XM_006720762 AAH15545;AAH26954;AAH38801;AAH51345;AAI10591;BAA06225;BAF85089;BAG52415;BAG59120;BAG62288;CAD97662;EAW77399;EAW77400;EAW77401;EAW77402;NP_001122082;NP_001269978;NP_005145;P40818;XP_006720824;XP_006720825 Hs.443731 1653750;1669848;1701586;1856368;2175850;2186780 D15S1200;D15S712E;G07414;RH104427;RH25289;RH45725 FLJ34456;HumORF8;KIAA0055;MGC129718;SPG59;UBPY OTTHUMP00000162416;deubiquitinating enzyme 8;hUBPy;ubiquitin carboxyl-terminal hydrolase 8;ubiquitin isopeptidase Y;ubiquitin specific protease 8;ubiquitin thioesterase 8;ubiquitin thiolesterase 8;ubiquitin-specific-processing protease 8 protein-coding HGNC:12631 04405 603158 REVIEWED 1603479 USP9YP2 ubiquitin specific peptidase 9, Y-linked pseudogene 2 Y Y q11.221-q11.222 20938061 20941399 - 18776175 18779513 - 12815422;9847074 387363 AC007379;NG_004636 APPROVED pseudo HGNC:31742 VALIDATED 6480974 USP9YP22 ubiquitin specific peptidase 9, Y-linked pseudogene 22 Y Y 9023208 9023421 + 9185599 9185812 + 100874383 ABBA01031651;AC009952;NG_032215 pseudo HGNC:38758 INFERRED 3051402 USP9YP3 ubiquitin specific peptidase 9, Y-linked pseudogene 3 Y Y q11.223 23823712 23835997 + 21661826 21674111 + 12815422 387364 AC021107;NG_004832 pseudo HGNC:37739 VALIDATED 4143663 USP9YP19 ubiquitin specific peptidase 9, Y-linked pseudogene 19 Y Y q11.23 27895007 27896135 - 25748860 25749988 - 100500797 AC010682;NG_027712 pseudo HGNC:38755 INFERRED 1321301 USP47 ubiquitin specific peptidase 47 ENCODES a protein that exhibits ubiquitin-specific protease activity; WD40-repeat domain binding; INVOLVED IN base-excision repair; cellular response to DNA damage stimulus; monoubiquitinated protein deubiquitination; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; SCF ubiquitin ligase complex; INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; cobalt dichloride 11 11 11 p15.3 11987161 12106131 + 11862970 11980872 + 11841423 11959325 + 1580863;6480464;8554872 12477932;12838346;14576168;14638676;14702039;14715245;15302935;15489334;16344560;16964243;17893145;19615732;19966869;20360068;21139048;21362556;21890473;21906983;22017875;22118674;22586326;22863883;22952844;23000965;23752268;23904609;24816145;8125298 55031 Q68D97;Q96K76 ABBA01061139;ABBA01061140;AC104383;AC124276;AF059318;AI126428;AK000734;AK027283;AK027362;AK074076;AK092290;AK093714;AK127264;AK225358;AK309240;AL832991;AMYH02024338;AMYH02024339;BC000226;BC017795;BC030562;BC047044;BC071559;BG752249;BM314303;CH471064;DA490237;NM_001282659;NM_017944;XM_005252997 AAG43115;AAH00226;AAH17795;AAH47044;AAI48588;BAA91348;BAB55063;BAB84902;BAG52521;BAG54467;CAH56337;EAW68542;EAW68543;EAW68544;NP_001269588;NP_060414;Q96K76;XP_005253054 Hs.577256 1647886;1665817;1683793;1693752;1699134;1735226;1751831;1751875;1782444;1850173;2121209;2147377;2148009;2151142;2162533;2173333;2179065;2218866 A008Y47;D11S4417;D11S4695;D11S4722;D3S2893E;G30594;RH103143;RH36287;RH78516;RH99064;SHGC-105775;SHGC-105785;SHGC-155067;SHGC-32430;SHGC-58826;STS-AA018552;STS-F03870;USP47__5050 DKFZp686C13257;FLJ20727;TRFP OTTHUMP00000230750;OTTHUMP00000230781;OTTHUMP00000230782;Trf (TATA binding protein-related factor)-proximal homolog;deubiquitinating enzyme 47;ubiquitin carboxyl-terminal hydrolase 47;ubiquitin specific protease 47;ubiquitin thioesterase 47;ubiquitin thiolesterase 47;ubiquitin-specific-processing protease 47 protein-coding ENSG00000170242 HGNC:20076 614460 VALIDATED 6480975 USP9YP30 ubiquitin specific peptidase 9, Y-linked pseudogene 30 Y Y 27869137 27869295 + 25722990 25723148 + 100874384 AC010682;NG_032216 pseudo HGNC:38766 INFERRED 4143662 USP9YP23 ubiquitin specific peptidase 9, Y-linked pseudogene 23 Y Y q11.222 19894111 19896696 + 17782231 17784816 + 9847074 100500798 AC007742;NG_027715 pseudo HGNC:38759 INFERRED 5133391 USP9YP34 ubiquitin specific peptidase 9, Y-linked pseudogene 34 Y Y q11.221 20096129 20105267 + 17984249 17993387 + 12815422 387361 AC009976;NG_004636 5116088;5116090 sY1938;sY1939 pseudo HGNC:38778 VALIDATED 3051404 USP9YP4 ubiquitin specific peptidase 9, Y-linked pseudogene 4 Y Y p11.2 9027248 9042222 - 9189639 9204613 - 12815422 387359 ABBA01031649;ABBA01031650;ABBA01031651;AC009952;NG_003168 1667237;2187923;2187929;2187931 DYF77S1;G66103;G66107;G66108 pseudo HGNC:37740 INFERRED 2946873 USP9YP5 ubiquitin specific peptidase 9, Y-linked pseudogene 5 Y Y 20652800 20656181 - 18490914 18494295 - 100421217 AC068541;NG_004636 1730039 DYS205 pseudo HGNC:38418 VALIDATED 1342718 USP9Y ubiquitin specific peptidase 9, Y-linked This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009] X Y Y q11.2 1806447 1966226 + 14813160 14972768 + 12701231 12860843 + 1580863;6480464;7240710;8699517;8554872 10581029;10767340;11869379;12895410;12925892;14702039;14983005;15696490;16893908;17148452;1723470;18205040;18357961;18511697;19246359;19343720;19380743;20301513;21890473;21906983;22118674;23000965;23287719;23455922;23650841;8922996;9381176;9384609;9827704;9847074 8287 H7C2M9;O00507 ABBA01065598;ABBA01065599;ABBA01065600;ABBA01065601;ABBA01065602;ABBA01065603;ABBA01065604;ABBA01065605;ABBA01065606;ABBA01065607;ABBA01065608;ABBA01065609;ABBA01065610;ABBA01065611;ABBA01065612;ABBA01065613;ABBA01065614;ABBA01065615;ABBA01065616;ABBA01065617;ABBA01065618;ABBA01065619;ABBA01065620;ABBA01065621;ABBA01065622;AC002531;AC244213;AC244434;AF000986;AK057605;BI754571;CH471155;CK823170;DQ151535;NG_008311;NM_004654;Y13618;Y13619 AAC51833;AAI56545;ABA28747;CAA73940;CAA73941;EAW91607;EAW91608;NP_004645;O00507 Hs.598540 1725841;1725843;1725845;1746061;1746993;1746995;1746997;1746999;1747001;1747003;1747005;1747007;1747009;1747011;1747013;1747015;1747017;1747019;2113598;2113600;2146515;2159799;2188309;2188327;2188825;2188839;2190417;2190419;2190421;2219748;5021648;5021650;5021652;5021654;5021656;5021658;5022899;5022901;5022903;5022905;5022907;5115714;5115716;5115718;5115720;5115722;5115724;5115726;5115728;5115730;5115732;5115734;5115736;5115738;5115740;5115742;5115744;5115746;5115748;5115750;5115752;5115754;5115756;5115758;5115760;5115762;5115764;5115766;5115768;5115770;5115772;5115774;5115776;5116884 G34983;G38348;G49211;G54725;G54726;G54727;G64979;G64980;G64981;G64982;G64983;G64984;G64985;G64987;G64988;G64989;G64990;G64991;G64992;G64993;G65839;G65849;G66187;G66199;M235;M237;M238_M239;USP9Y-10;USP9Y-11;USP9Y-12;USP9Y-13;USP9Y-14;USP9Y-15;USP9Y-16;USP9Y-17;USP9Y-18;USP9Y-19;USP9Y-2;USP9Y-20;USP9Y-21;USP9Y-22;USP9Y-23;USP9Y-24;USP9Y-25;USP9Y-27;USP9Y-28;USP9Y-29;USP9Y-30;USP9Y-31;USP9Y-32;USP9Y-33;USP9Y-34;USP9Y-35;USP9Y-36;USP9Y-37;USP9Y-38;USP9Y-39;USP9Y-4;USP9Y-40;USP9Y-41;USP9Y-42;USP9Y-43;USP9Y-44;USP9Y-45;USP9Y-46;USP9Y-5;USP9Y-6;USP9Y-7;USP9Y-8;USP9Y-9;USP9Y__5056;sY1316;sY1317;sY644 DFFRY;FLJ33043;SPGFY2 OTTHUMP00000034631;deubiquitinating enzyme FAF-Y;fat facets protein related, Y-linked;fat facets protein-related, Y-linked;fat facets-like homolog;probable ubiquitin carboxyl-terminal hydrolase FAF-Y;ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila);ubiquitin specific protease 9, y-linked (fat facets-like, drosophila);ubiquitin thioesterase FAF-Y;ubiquitin thiolesterase FAF-Y;ubiquitin-specific processing protease FAF-Y;ubiquitin-specific protease 9, Y chromosome;ubiquitin-specific-processing protease FAF-Y APPROVED protein-coding ENSG00000114374 HGNC:12633 02449 400005;415000 REVIEWED 4109290 USP9YP7 ubiquitin specific peptidase 9, Y-linked pseudogene 7 Y Y 20022471 20022667 + 17910591 17910787 + 9847074 100462821 AC009976;NG_004636 pseudo HGNC:38079 VALIDATED 2946872 USP9YP8 ubiquitin specific peptidase 9, Y-linked pseudogene 8 Y Y Y 224159 226136 - 23839132 23841109 - 21677246 21679223 - 100421219 ABBA01049560;ABBA01049561;AC021107;NG_021921 pseudo HGNC:38424 INFERRED 3051023 USP9YP6 ubiquitin specific peptidase 9, Y-linked pseudogene 6 Y Y q11.221 20026791 20033510 - 17914911 17921630 - 12815422;9847074 100462820 AC009976;NG_004636 CDY24P pseudo HGNC:38078 VALIDATED 2946871 USP9YP9 ubiquitin specific peptidase 9, Y-linked pseudogene 9 Y Y Y 10156239 10159681 + 27876157 27879599 - 25730010 25733452 - 100421220 AC010682;NG_021931 pseudo HGNC:38435 INFERRED 1351270 USP48 ubiquitin specific peptidase 48 This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p36.12 20327493 20432623 - 22004791 22109688 - 21678298 21783195 - 6480464 12477932;12838346;14702039;14715245;15342556;15354349;15489334;16214042;16710414;17081983;18029348;19615732;21139048;21832049;21890473;21906983;21963094;21987572;22118674;22863883;22939629;23000965;23287719;24308971;9409543 84196 E9PJ87;E9PJ93;E9PJH5;E9PRY5;H3BLX5;Q86UV5 ABBA01059823;ABBA01059824;ABBA01059825;ABBA01059826;ABBA01059827;ABBA01059828;AF502942;AI248244;AK000110;AK002190;AK021830;AK026707;AK074247;AK226150;AK315005;AL359815;AL590103;AL834375;AMYH02000457;AMYH02000458;AMYH02000459;BC007326;BC011576;BC013567;BC067261;BC103724;BC104896;BC143343;BC143349;BC143354;BM462540;BP238468;BQ027743;CA436959;CH471134;NM_001032730;NM_032236;XM_005246009;XM_005246010;XM_006710949;XM_006710950;XM_006710951;XM_006710952;XM_006710953;XM_006710954;XM_006710955;XM_006710956;XR_426634 AAH07326;AAH13567;AAH67261;AAI03725;AAI04897;AAI43344;AAI43350;AAI43355;AAP30832;BAA90950;BAA92128;BAB15533;CAD39038;EAW94987;EAW94988;EAW94989;EAW94990;EAW94991;EAW94992;NP_001027902;NP_115612;Q86UV5;XP_005246066;XP_005246067;XP_006711012;XP_006711013;XP_006711014;XP_006711015;XP_006711016;XP_006711017;XP_006711018;XP_006711019 Hs.467524 1673016;1689861;2130643;2140155;2174223;2218868 D1S3512;G31067;RH94323;SHGC-74344;SHGC-74346;USP48__5051 DKFZp762M1713;MGC132556;MGC14879;RAP1GA1;USP31 OTTHUMP00000009467;OTTHUMP00000009469;OTTHUMP00000235447;deubiquitinating enzyme 48;ubiquitin carboxyl-terminal hydrolase 48;ubiquitin specific protease 31;ubiquitin specific protease 48;ubiquitin thioesterase 48;ubiquitin thiolesterase 48;ubiquitin-specific-processing protease 48 APPROVED protein-coding ENSG00000090686 HGNC:18533 15637 REVIEWED 1346918 UTF1 undifferentiated embryonic cell transcription factor 1 ENCODES a protein that exhibits transcription coactivator activity; INVOLVED IN male gonad development; positive regulation of transcription from RNA polymerase II promoter; FOUND IN nucleus; INTERACTS WITH all-trans-retinoic acid; arsane; arsenic atom 10 10 10 q26 128471466 128472747 - 135043778 135045062 + 133230274 133231558 + 1580863;6480464 11467843;15164054;16582099;18281244;18983962;19393592;20218897;20855642;21446939;22880087;23101626;23536577;9524124;9748258 8433 Q5T230 AB011076;ABBA01006207;AL445199;AMYH02024087;AY606112;CH471211;NM_003577 AAI66624;AAT38949;BAA33463;EAW61322;NP_003568;Q5T230 Hs.458406 5493521 UniSTS:487024 OTTHUMP00000020786 protein-coding ENSG00000171794 HGNC:12634 11964 604130 PROVISIONAL 1321964 USPL1 ubiquitin specific peptidase like 1 ENCODES a protein that exhibits SUMO binding; SUMO-specific isopeptidase activity; INVOLVED IN Cajal body organization; cell proliferation; protein desumoylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN Cajal body; extracellular space; INTERACTS WITH copper(2+) sulfate; cyclosporin A; elemental selenium 13 13 13 q12-q14 12260821 12302674 + 31191830 31233687 + 30617693 30659550 + 6480464;8554872 12477932;14702039;19615732;21988832;22678362;22878415;23338788;23891004 10208 A8K1B1;Q5W0Q7 ABBA01035692;ABBA01035693;AK057514;AK289826;AL138681;AL832776;AMYH02027800;BC012594;BC036027;BC038103;BI752017;CH471075;CR627370;NM_005800;X59131;XM_005266213;XM_005266214;XM_006719751 AAH36027;AAH38103;BAF82515;BAG51926;CAA41848;CAH10469;EAX08466;NP_005791;Q5W0Q7;XP_005266270;XP_005266271;XP_006719814 Hs.533831 1645407;1664431;1669256;1756101;5016478;5037552 D8S2279;GDB:434012;SGC30739;SHGC-11972;SHGC-142889;STS-X59131 C13orf22;D13S106E;DKFZp781K2286;FLJ32952;RP11-121O19.1;bA121O19.1 OTTHUMP00000018203;SUMO-specific isopeptidase USPL1;highly charged protein;ubiquitin-specific peptidase-like protein 1 protein-coding ENSG00000132952 HGNC:20294 09833 VALIDATED 1312363 UST uronyl-2-sulfotransferase Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008] 6 6 6 q25.1 149804170 150133178 + 149068063 149398126 + 148746928 149076990 + 1580863;6480464;6907045;8554872 10187838;12477932;14574404;15489334;16192264;17227754;19240061;19322201;20360315;20379614;20467438;21145461;21890473;23620144 10090 Q9Y2C2 AB020316;ABBA01025688;ABBA01025689;ABBA01025690;ABBA01025691;AI570697;AJ420554;AK292922;AK315320;AL357992;AL359252;AL589705;AL590485;AL807246;AMYH02014684;AMYH02014685;AMYH02014686;AMYH02014687;AMYH02014688;BC093668;BC093694;CA842761;CH471051;DB496757;NM_005715;XM_005266790 AAH93668;AAH93694;BAA77510;BAF85611;BAG37723;EAW47812;NP_005706;Q9Y2C2;XP_005266847 Hs.657370 1341174;1660491;1669731;1674634;1678181;1693722;1757879;1758535;1779208;1785854;1786172;2172234;2172274;2219750 D6S1148E;D6S1329;D6S1564;RH46094;RH92645;SGC44468;SHGC-111955;SHGC-146752;SHGC-148649;SHGC-152794;SHGC-44468;SHGC-58640;SHGC-83979;UST__5057 2OST OTTHUMP00000017745;dermatan/chondroitin sulfate 2-sulfotransferase;uronyl 2-sulfotransferase APPROVED protein-coding ENSG00000111962 HGNC:17223 10298 610752 VALIDATED 731994 UTP11L UTP11-like, U3 small nucleolar ribonucleoprotein (yeast) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN nervous system development; positive regulation of apoptotic process; FOUND IN cytoplasm; extracellular space; nucleolus; INTERACTS WITH copper(2+) sulfate; copper(II) chloride; cyclosporin A 1 1 1 p34.3 36757020 36769134 + 38478384 38490497 + 38012712 38024825 + 6480464 10810093;11790298;11860508;12477932;12559088;14702039;15489334;15635413;16710414;17081983;21139048;21693764;21890473;21906983;7829101 51118 B4DJC6;Q9Y3A2 ABBA01023248;AF067802;AF151852;AK023587;AK291900;AK296018;AK308377;AL603790;AMYH02000811;BC005182;BI493106;BU620078;BU940926;CH471059;CX163866;NM_016037 AAD34089;AAF75562;AAH05182;ADZ15854;BAF84589;BAG58788;EAX07299;EAX07300;NP_057121;Q9Y3A2 Hs.472038;Hs.637686 1853838;2114729;2181741;5014051 D1S3288;D8S2278;RH17970;SHGC-74616 CGI-94;CGI94 OTTHUMP00000004725;U3 snoRNA-associated protein 11;UTP11-like protein;comparative gene identification transcript 94;probable U3 small nucleolar RNA-associated protein 11 APPROVED protein-coding ENSG00000183520 HGNC:24329 16711 609440 VALIDATED 1344153 UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) INVOLVED IN cell differentiation (inferred); meiotic cell cycle (inferred); multicellular organismal development (inferred); PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip (inferred); FOUND IN nucleus (inferred); small-subunit processome (inferred); INTERACTS WITH atrazine; cyclosporin A; paracetamol 13 13 13 q14.2 33647465 33656374 + 52598827 52607736 + 52024691 52033600 + 6480464;6907045;8554872 12477932;15057823;15289605;15489334;16354793;22285623;8889549;9039502 9724 Q08E77;Q5TAP6 ABBA01051054;AI076921;AL139082;AMYH02028040;BC089407;BC122536;CH471075;D87455;N71815;NM_021645 AAH89407;AAI22537;ACE86609;ACE87290;BAA13396;EAX08899;EAX08900;EAX08901;EAX08902;EAX08903;NP_067677;Q5TAP6 Hs.512963 1665354;1665356;1682716;1700368;1857992;2114518;2123543;2130738;2142413 A005R37;G20449;G30316;RH103804;RH94249;SHGC-3226;STS-N34663;WI-13764;WI-20648 2700066J21Rik;KIAA0266;MGC104971;UTP14B OTTHUMP00000018445;U3 small nucleolar RNA-associated protein 14 homolog C protein-coding ENSG00000253797 HGNC:20321 12346 608969 VALIDATED 1347961 UTP14A UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] X X X q26.1 129426601 129450242 + 129040097 129063738 + 129906121 129929762 + 1580863;6480464;6907045 12429849;12477932;14702039;15289605;15342556;15383276;15489334;15772651;16169070;16189514;16354793;16565220;17081983;19471022;21078665;21139048;21252943;21693764;21900206;22113938;22178446;22586326;22939629;23455924;23667531;23752268;24457600;24654937;24816145;9610721 10813 Q9BVJ6;X6RJY0 ABBA01047855;ABBA01047856;ABBA01047857;ABBA01047858;ABBA01047859;AK094408;AK291918;AK298578;AK304563;AL034405;AMYH02040465;AMYH02040466;BC001149;BC009649;BC014987;BP353997;BQ017502;BU942896;CH471107;NM_001166221;NM_006649;XM_005262363 AAH01149;AAH09649;AAH14987;ABM83475;ABM86686;BAF84607;BAG60770;BAG65355;EAX11820;NP_001159693;NP_006640;Q9BVJ6;XP_005262420 Hs.458598 1691590;1847528;2132591 A004M32;AL032566;STS-H16242 FLJ37089;KIAA0266;NY-CO-16;NYCO16;SDCCAG16;dJ537K23.3 OTTHUMP00000023994;U3 small nucleolar RNA-associated protein 14 homolog A;antigen NY-CO-16;serologically defined colon cancer antigen 16 APPROVED protein-coding ENSG00000156697 HGNC:10665 06712 300508 REVIEWED 1604578 UTP15 UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN rRNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; FOUND IN cytoplasm; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; cyclosporin A 5 5 5 q13.2 68756885 68773081 + 72861568 72878984 + 73565741 73583377 + 6480464;6907045 11076863;11230166;11256614;12429849;12477932;14702039;15489334;15489336;16136320;16381901;17567985;21139048;21890473;21906983;22505724;22586326;22797925;22939629;23000965;23166591;24457600;24816145;25011449 84135 D6RF65;H0Y8P4;Q8TED0 ABBA01061920;AC010279;AK022849;AK074217;AK300525;AK302021;AL520195;AL831972;AMYH02011562;BC013064;BP872156;BX094101;CH471084;CR457295;NM_001284430;NM_001284431;NM_032175 AAH13064;BAB14271;BAB85020;BAG62237;BAG63420;CAG33576;CAL37615;CAL38422;EAW95731;NP_001271359;NP_001271360;NP_115551;Q8TED0 Hs.406703 2128373;5037552 D8S2279;STS-T10509 FLJ12787;NET21 OTTHUMP00000222040;OTTHUMP00000222041;OTTHUMP00000222042;Src-associated protein SAW;U3 small nucleolar RNA-associated protein 15 homolog protein-coding ENSG00000164338 HGNC:25758 07796 VALIDATED 1349005 UTP18 UTP18 small subunit (SSU) processome component homolog (yeast) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN rRNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH 2-methylcholine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 17 17 17 q21.33 45799091 45836491 + 49337897 49375294 + 51260487 51297933 + 6480464;6907045;8554872 10810093;12429849;12477932;15199122;15302935;15489334;15590835;16964243;17081983;19615732;20639865;21693764;21890473;21906983;21963094;22113938;22505724;22586326;23000965;23752268;24250222;24457600;24654937;24816145;8619474;9110174 51096 F6VJE8;J3KSR7;J3QLD6;J3QR85;J3QRG0;Q9Y5J1 ABBA01041261;AC006141;AF151806;AK026355;AK314399;AMYH02033618;AY007138;BC001535;BC025276;BG723023;BM548967;CH471109;NM_016001;XM_006721930 AAD34043;AAG01999;AAH25276;BAG37023;EAW94559;NP_057085;Q9Y5J1;XP_006721993 Hs.709327 1767920;2122319;2126217;2145416;2169481;2186543 A002Q33;D17S1279;D17S2000;RH66348;STS-AA024455;STS-N27279 CGI-48;WDR50 OTTHUMP00000221917;U3 small nucleolar RNA-associated protein 18 homolog;UTP18, small subunit (SSU) processome component, homolog;WD repeat domain 50;WD repeat-containing protein 50 APPROVED protein-coding ENSG00000011260 HGNC:24274 612816 VALIDATED 1603977 UTP3 UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN brain development (ortholog); FOUND IN nucleolus; nucleus (ortholog); INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-colchicine; 5-fluorouracil 4 4 4 q13.3 68911196 68913268 + 71554196 71556268 + 70688479 70690551 + 6480464 11076863;11230166;11256614;11790298;12477932;14702039;15489334;15489336;15635413;16169070;16344560;16381901;16565220;17015728;17081983;21139048;21182205;21544627;21890473;21906983;22751105;23000965;24654937;24700029;24816145 57050 Q9NQZ2 ABBA01022935;AC009570;AF271212;AK026909;AL136590;AMYH02009424;BC004546;CH471057;CR533544;CS300532;DB021011;NM_020368 AAF91408;AAH04546;ABM83925;ABW03551;BAB15588;CAB66525;CAG38575;CAK32196;CAL37740;CAL37950;CAL38107;EAX05627;NP_065101;Q9NQZ2 Hs.322901 1647818;2150652 SHGC-56824;SHGC-67668 CRL1;CRLZ1;FLJ23256;SAS10 OTTHUMP00000160360;UTP3 homolog;charged amino acid rich leucine zipper 1 homolog;charged amino acid-rich leucine zipper 1;disrupter of silencing 10;disrupter of silencing SAS10;something about silencing protein 10 protein-coding ENSG00000132467 HGNC:24477 18016 611614 VALIDATED 1601941 UTP23 UTP23, small subunit (SSU) processome component, homolog (yeast) ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN rRNA processing (inferred); FOUND IN nucleus (inferred); small-subunit processome (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; formaldehyde 8 8 8 q24.11 113967456 113975628 + 117778742 117792449 + 116766503 116780210 + 6480464 12477932;14702039;15342556;16769905;21832049;21906983;24250222;24816145 84294 E5RG01;E5RGP0;E5RH13;E5RIC4;E5RIM0;G3XAM4;Q9BRU9 ABBA01037792;AC087350;AK055279;AK315770;AMYH02018657;AP002905;BC005955;BC022441;BP231814;CH471060;NM_032334;XM_005251080 AAH05955;AAH22441;ADZ15872;BAB70896;BAG38122;EAW91960;EAW91961;EAW91962;NP_115710;Q9BRU9;XP_005251137 Hs.86970 5016478;5020881;5022200;5022578;5022588;5022651;5037552 D11S2921;D1S1423;D5S1597E;D8S2279;GDB:434012;L17709;L18426 C8orf53;MGC14595 OTTHUMP00000228031;rRNA-processing protein UTP23 homolog protein-coding ENSG00000147679 HGNC:28224 17499 VALIDATED 1607048 UTP20 UTP20, small subunit (SSU) processome component, homolog (yeast) UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009] 12 12 12 q23 101339214 101445692 + 101673905 101780397 + 101280127 101386619 + 6480464 11790298;12150911;12429849;12837249;14503924;15302935;15590835;15635413;15656982;16053918;16458307;16565220;17498821;17652137;17903303;19471022;19596686;20197096;21139048;21151873;21890473;21963094;22108332;22586326;22939629;24250222;24457600;24816145;7566098;9673349 27340 O75691 AA306482;ABBA01053244;ABBA01053245;AC063948;AC063951;AF072718;AJ006778;AK000333;AK297739;AK307934;AMYH02027070;AMYH02027071;BX957203;CH471054;NM_014503;XM_006719343 AAG35208;BAG60089;CAA07243;EAW97652;EAW97653;EAW97654;EAW97655;EAW97656;NP_055318;O75691;XP_006719406 Hs.295732 1340552;1736208;1746279;1759349;1793444;2143002;2170569;5019737 A009L38;D12S1153E;D12S1727;G32661;G64595;PMC222913P1;RH65919;SHGC-150879 DRIM;NNP73 OTTHUMP00000243365;down regulated in metastasis;down-regulated in metastasis protein;novel nucleolar protein 73;small subunit processome component 20 homolog APPROVED protein-coding ENSG00000120800 HGNC:17897 09928 612822 VALIDATED 1603639 UTP6 UTP6, small subunit (SSU) processome component, homolog (yeast) INVOLVED IN rRNA processing (inferred); PARTICIPATES IN ribosome biogenesis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; ethyl methanesulfonate 17 17 17 q11.2 27109830 27148402 - 30190190 30228729 - 31863171 31901710 - 6480464;6907045;8554872 10843809;12097419;12429849;12477932;14702039;15489334;15635413;16138909;16147992;16189514;17380155;17632510;18029348;19299467;19454010;21139048;21890473;21906983;21963094;21987572;22586326;22939629;23752268;24457600;24816145;8125298 55813 J3KRR8;J3QSA7;Q9NYH9 ABBA01014946;ABBA01014947;ABBA01014948;AC004253;AC129917;AF116631;AF244135;AF334386;AJ272197;AK057202;AK126564;AK225448;AK299806;AK315929;AMYH02033305;BC015454;BC035325;CH471147;NM_018428;XM_005258012;XR_243780 AAF66244;AAF71054;AAH15454;AAH35325;AAO15382;BAG51883;BAG54344;BAG61681;BAH14300;CAB77268;EAW80259;NP_060898;Q9NYH9;XP_005258069 Hs.589862 1648147;2153845;5024761;5037552 D8S2279;RH123;RH36905;SHGC-34334 C17orf40;HCA66 OTTHUMP00000163709;U3 small nucleolar RNA-associated protein 6 homolog;hepatocellular carcinoma associated antigen 66;hepatocellular carcinoma-associated antigen 66;multiple hat domains protein protein-coding HGNC:18279 11020 VALIDATED 1342744 UTS2R urotensin 2 receptor ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); urotensin II receptor activity (inferred); INVOLVED IN blood circulation (inferred); G-protein coupled receptor signaling pathway (inferred); negative regulation of blood pressure (inferred); ASSOCIATED WITH Diabetic Nephropathies; Acute Kidney Injury (ortholog); Cardiomyopathies (ortholog); FOUND IN early endosome (inferred); integral component of membrane (inferred); membrane (inferred); INTERACTS WITH aflatoxin B1; atrazine; dimethyl sulfoxide 17 17 17 q25.3 76924342 76925511 + 80330647 80333528 + 82374325 82375494 + 633970;1580807;1580812;1580863;2306785;2306796;2306786;2306833;2306846;2306805;2306836;2306839;2306847;6480464 14621188;15306183;15492948;15549273;16267137;16919371;17900760;18280445;18796544;19323985;8666380 10499587;10581185;10828617;11015293;12477932;14550283;14753294;15476949;15752584;16597476;16754659;17537987;17595527;17617581;17686550;17905478;18409194;18423797;19001524;19111831;19788716;20428787;20479331;20870804;21080343;22245063;22563490;23344731;24391740;24893613;9861051 2837 Q9UKP6 ABBA01019676;AC132938;AF140631;AMYH02034153;BC136490;CH471099;NM_018949 AAD55578;AAI36491;EAW89768;NP_061822;Q9UKP6 Hs.192720 5493723;5493973 UniSTS:480604;UniSTS:493961 GPR14;UR-2-R;UTR;UTR2 G protein-coupled receptor 14;G-protein coupled receptor 14;UR-II-R;urotensin II receptor;urotensin-2 receptor protein-coding ENSG00000181408 HGNC:4468 02938 600896 PROVISIONAL 1603529 UTS2B urotensin 2B ENCODES a protein that exhibits G-protein coupled receptor binding (inferred); hormone activity (inferred); INVOLVED IN regulation of blood pressure (inferred); regulation of vasodilation (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH aflatoxin B1; copper atom; copper(0) 3 3 3 q28 189413735 189477117 - 190984944 191048325 - 191267155 191330536 - 6480464;8554872 12477932;14550283;14702039;16344560;16754659;16940699;17327028;17919235;18000598;21116278;21684671;24391740 257313 C9JU87;F2Z3I1;F8WCV4;Q765I0 AB116021;ABBA01058317;ABBA01058318;AC068645;AC126567;AK090630;AMYH02008415;AMYH02008416;AMYH02008417;AY321313;BC112166;CH471052;DB068521;NM_198152 AAI12167;AAQ83883;BAC98929;BAG52200;EAW78091;EAW78092;EAW78093;EAW78094;NP_937795;Q765I0 Hs.518492 1700272 RH103754 MGC138371;U-IIB;U2B;UIIB;URP;UTS2D OTTHUMP00000209349;OTTHUMP00000209354;prepro-URP;urotensin 2 domain containing;urotensin II-related peptide;urotensin IIB;urotensin-2 domain-containing protein;urotensin-2B APPROVED protein-coding ENSG00000188958 HGNC:30894 15630 VALIDATED 737599 UTS2 urotensin 2 This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active peptide acts as a vasoconstrictor and is expressed only in brain tissue. Despite the gene family name similarity, this gene is not homologous to urocortin, a member of the sauvagine/corticotropin-releasing factor/urotensin I family. Most of the proprotein is cleaved to make the mature peptide. Transcript variants encoding different preproprotein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36 7015352 7021232 - 7907672 7913551 - 7847612 7853491 - 1580806;1580807;1580808;1580809;1580863;2306814;2306785;2306799;2306786;2306795;2306802;2306803;2306806;2306807;2306832;2306846;2306848;2306796;2306804;2306805;2306836;6480464 12791592;15042392;15201550;15306183;15476949;15476950;15492948;15549273;15866083;16364499;16508659;17045018;17184580;17327028;17900760;18067077;18280445;18338983;18796544;19323985 10499587;10581185;11344221;11725162;12088848;12203418;12297490;12381671;12468107;12477932;12509909;12830381;12905622;12975309;15007012;15340161;15379892;15618545;15891007;16172428;16343502;16597476;16710414;16754659;16783414;16807543;16866021;17143557;17686550;17822806;18086953;18284603;18314227;18440535;18505448;18577758;19001524;19056482;19326266;19362580;19398874;19578796;19797715;20017703;20339975;20428787;20653105;20695946;21274584;21297633;21556780;21559414;21605557;21623998;21694541;22045841;22098077;22319601;22587369;23158820;23301552;23333481;23344731;23905608;23981122;24339964;24391740;25134283;9279525;9861051 10911 A0AVP6;O95399;Q5H8X8 ABBA01035491;AF104118;AF140630;AMYH02000199;AY358375;BC025776;BC126443;BC171734;CH471130;GN344139;GN344141;NM_006786;NM_021995;Z98884 AAD13070;AAD55577;AAI26444;AAQ88741;CAY56005;CAY56006;EAW71587;EAW71588;EAW71589;NP_006777;NP_068835;O95399 Hs.715862 PRO1068;U-II;UCN2;UII OTTHUMP00000001356;OTTHUMP00000001357;OTTHUMP00000001358;prepro U-II;urotensin II;urotensin-2 APPROVED protein-coding ENSG00000049247 HGNC:12636 04976 604097 REVIEWED 7384518 UXT-AS1 UXT antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) X X X p11.23 51713495 51715039 + 47518232 47519776 + 47658833 47660111 + 8554872 16344560 100133957 ABBA01052394;ABBA01052395;AK295794;AL009172;AMYH02039290;AW084183;DB182705;NR_028119 BAH12188 Hs.546106 ncrna ENSG00000267064 HGNC:49239 VALIDATED 1605974 UVSSA UV-stimulated scaffold protein A The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex to help repair UV-induced DNA damage. Defects in this gene can cause UV-sensitive syndrome 3. [provided by RefSeq, May 2012] 4 4 4 p16.3 208 1908 + 1341043 1381837 + 1347255 1388049 + 6480464;8699517;8554872;7240710 10819331;12477932;17207965;20834067;21139048;22466610;22466611;22466612;22902626;23631307;23760561;24250222 57654 H0Y924;Q2YD98 AB040963;ABBA01019363;AC078852;AC118281;AK292661;AL110229;AL390128;AMYH02008581;BC021930;BC110331;BC140901;CH471131;EL735271;NG_032753;NM_020894;XM_005272290;XM_006713897;XM_006713898;XM_006713899 AAH21930;AAI10332;AAI40902;BAA96054;BAF85350;CAH10662;EAW82584;NP_065945;Q2YD98;XP_005272347;XP_006713960;XP_006713961;XP_006713962 Hs.380475 1657080;1850229;2147230;5022450;5022649 D10S275;D11S2875;SHGC-58150;SHGC-59630;SHGC-67909 KIAA1530;MGC117169;UVSS3 OTTHUMP00000217693;OTTHUMP00000217694;OTTHUMP00000217695;hypothetical protein LOC57654;uncharacterized protein KIAA1530 APPROVED protein-coding ENSG00000163945 HGNC:29304 17216 614632;614640 REVIEWED 1347196 UXT ubiquitously-expressed, prefoldin-like chaperone The protein encoded by this gene functions as a cofactor that modulates androgen receptor-dependent transcription, and also plays a critical role in tumor necrosis factor-induced apoptosis. Expression of this gene may play a role in tumorigenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] X X X p11.23-p11.22 51706458 51713823 - 47511191 47518579 - 47651792 47659180 - 1580863;6480464;8554872 10087202;11042152;11799066;11827465;11854421;11944989;12477932;12762840;14615539;14645504;14711828;15231747;15264020;15489334;15772651;16221885;16344560;17554592;17620405;17635584;17643375;17761951;18157088;19318562;19450687;20309963;21139048;21307340;21730289;21832049;21890473;21906983;21907703;21963094;21987572;22131337;22505724;22933289;23000965;23961993;24021647;24136450;25036637;8125298 8409 Q9UBK9;S4R2Z4 ABBA01052394;AF083241;AF083242;AF092737;AK223320;AK312072;AL009172;AMYH02039290;BC000720;BC008890;BM471483;BQ681820;CH471164;CQ834162;CQ834164;DA372561;EL949569;NM_004182;NM_153477;NR_045559;NR_045560 AAD28698;AAD39839;AAD39840;AAH00720;AAH08890;BAG35008;CAH05296;CAH05297;EAW59324;EAW59325;EAW59326;NP_004173;NP_705582;Q9UBK9 Hs.172791;Hs.735566 2144406;2189433 MARC_5871-5872:991939768:1;RH18409 ART-27;STAP1 OTTHUMP00000023226;OTTHUMP00000023227;SKP2-associated alpha PFD 1;androgen receptor trapped clone 27 protein;ubiquitously expressed transcript protein APPROVED protein-coding ENSG00000126756 HGNC:12641 02209 300234 REVIEWED 735996 UXS1 UDP-glucuronate decarboxylase 1 This gene encodes an enyzme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 2 2 2 q12.2 100910185 101011254 - 106709759 106810795 - 106093303 106194339 - 6480464;6907045 11877387;12391314;12477932;12975309;14702039;15489334;15815621;16303743;16344560;19027726;19028698;19199708;19913121;20379614;20628086;20877624;21294126;23656592;24250222;8125298 80146 B3KV61;B4E3U7;C9J3T9;C9JCB7;C9JE50;C9JFU6;C9JW33;Q8NBZ7 ABBA01073843;ABBA01073844;AC018878;AI217133;AK027244;AK056022;AK075120;AK075170;AK122696;AK225592;AK290668;AK304872;AL834439;AMYH02004484;AMYH02004485;AMYH02004486;AMYH02004487;AMYH02004488;AMYH02004489;AY147934;AY358541;BC009819;BI550591;BI825770;BM472113;BX366726;CF242897;CH471127;CQ783167;CQ783244;DB379311;NM_001253875;NM_001253876;NM_025076;NR_045607;XM_006712775 AAH09819;AAN39844;AAQ88905;AAY15085;ABM84178;ABM87580;BAB15705;BAC11415;BAC11448;BAF83357;BAG53673;BAG65609;CAD39099;CAF86373;CAF86438;EAX01747;EAX01748;EAX01749;EAX01750;NP_001240804;NP_001240805;NP_079352;Q8NBZ7;XP_006712838 Hs.469561;Hs.743389 1657153;1670695;1676842;1703886;1753451;1755123;1761353;2116528;2124667;2136424 RH12428;RH18480;RH26280;RH36460;RH70063;SHGC-107402;SHGC-142052;SHGC-145369;SHGC-83592;WIAF-1518 FLJ23591;SDR6E1;UGD;UXS-1 OTTHUMP00000203222;OTTHUMP00000203223;UDP-glucuronic acid decarboxylase 1;short chain dehydrogenase/reductase family 6E, member 12 APPROVED protein-coding ENSG00000115652 HGNC:17729 15642 609749 VALIDATED 1347283 VAC14 Vac14 homolog (S. cerevisiae) The content of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) in endosomal membranes changes dynamically with fission and fusion events that generate or absorb intracellular transport vesicles. VAC14 is a component of a trimolecular complex that tightly regulates the level of PtdIns(3,5)P2. Other components of this complex are the PtdIns(3,5)P2-synthesizing enzyme PIKFYVE (MIM 609414) and the PtdIns(3,5)P2 phosphatase FIG4 (MIM 609390). VAC14 functions as an activator of PIKFYVE (Sbrissa et al., 2007 [PubMed 17556371]).[supplied by OMIM, Feb 2010] 16 16 16 q22.1 54687481 54803215 + 70721342 70835074 - 70687439 70801171 - 634487;6480464;8554872 12719380 12477932;14702039;15542851;17161399;17353931;17556371;17956977;18950639;19037259;19840946;20379614;20630877;21832049;22261722;22610972;22939629;23956138;24722188;8611628 55697 H3BN23;H3BQD9;H3BUU8;J3QLC3;Q08AM6;Q9NTB8 ABBA01010649;AC020763;AC027281;AC244605;AK001167;AK025479;AK056433;AK090627;AK093941;AK128439;AK297564;AK307766;AK310466;AL137396;AMYH02032310;BC000536;BC007214;BC110072;BC110852;BC125108;BC125109;CH471241;CR457343;KF456200;NM_018052;U25801;XM_005256038;XM_005256039;XM_005256040;XM_005256041 AAB03813;AAH00536;AAH07214;AAI25109;AAI25110;BAA91530;BAB15145;BAG51707;BAG52790;BAG59956;CAB70724;CAG33624;EAW51791;EAW51792;EAW51793;EAW51794;EAW51795;NP_060522;Q08AM6;XP_005256095;XP_005256096;XP_005256097;XP_005256098 Hs.445061 1662738;1727273;1737553;1738681;1764761;2161854;2177340;2184667 D16S2659;D16S2796;D16S3397;G63042;SHGC-148340;SHGC-61090;STS-AA011691;STS-U25801 FLJ10305;FLJ36622;FLJ46582;MGC149815;MGC149816;TAX1BP2;TRX ArPIKfyve;OTTHUMP00000174908;Tax1 (human T-cell leukemia virus type I) binding protein 1;Tax1 (human T-cell leukemia virus type I) binding protein 2;protein VAC14 homolog;tax1-binding protein 2 APPROVED protein-coding ENSG00000103043 HGNC:25507 07660 604632 VALIDATED 7244455 VAC14-AS1 VAC14 antisense RNA 1 16 16 16 q22.2 54715365 54733556 - 70788963 70807154 + 70755060 70773251 + 14702039 100130894 ABBA01010649;AC020763;AC244605;AK095020;BC035152;CH471241;DB487352;HG508231;KF456200;NR_034083 BAC04476;EAW51796 Hs.678899 1738681;5037552 D16S2796;D8S2279 RP11-394B2.4 ncrna ENSG00000214353 HGNC:48605 VALIDATED 731341 UTRN utrophin This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008] 6 6 6 q24 145353235 145914469 + 144606434 145174170 + 144286354 144853034 + 737706;1580863;2300329;6480464;8554872 17031801;9288751 10369873;10545507;10647184;10737800;10767429;10769203;10995443;11178104;11377836;11430802;11796130;11861579;11875058;11997063;12006649;12034776;12054535;12370193;12499352;12619170;12633873;1400579;1426262;1461283;14702039;15146197;15231748;16049973;16198105;16295426;16344560;16595608;16598790;16710609;16777071;16803572;16936636;17043677;17081983;17342744;17507653;18029348;18468998;18945675;19056867;19615732;19786618;19850743;19945424;2014247;20347265;20379614;20434517;20562859;20625423;20811636;21139048;21326213;21482524;21672318;21890473;21906983;2203673;22275054;22586326;22609462;22939629;23000965;23163995;23345212;23363418;23402259;23937156;24255178;24628267;24816145;2541343;7589238;7844150;7890770;8281135;8576247;8889548;8977119;9701558;9887274 7402 H0Y337;P46939;Q5JT44;Q5JT45;Q5JT49;Q5SYY2;Q5T097;Q5T098;Q6LBS5 ABBA01025734;ABBA01025735;ABBA01025736;ABBA01025737;ABBA01025738;ABBA01025739;ABBA01025740;AK023675;AK292506;AL024474;AL357149;AL513184;AL513475;AL590488;AL590704;AMYH02014645;AMYH02014646;AMYH02014647;BE817979;BM729107;BX100445;BX472896;CA449403;CH471051;CN360586;DB079517;NM_007124;X15488;X69086;XM_005267127;XM_005267128;XM_005267130;XM_005267132;XM_005267133;XM_006715559;XM_006715560 ACX32321;BAF85195;CAA33515;CAA48829;EAW47845;EAW47846;EAW47847;EAW47848;NP_009055;P46939;XP_005267184;XP_005267185;XP_005267187;XP_005267189;XP_005267190;XP_006715622;XP_006715623 Hs.133135 1650638;1652944;1661512;1676067;1693712;1722123;1739549;1773178;1787852;1847791;1850706;1852714;2119776;2123344;2147639;5021315 D6S1527;EST1F7;G60105;RH36365;RH46776;RH47553;RH79018;RH99228;SHGC-132615;SHGC-36555;SHGC-37610;SHGC-58632;STS-H71515;STS-H99088;STS-R93696;WI-18022 DMDL;DRP;DRP-1;DRP1;FLJ23678 OTTHUMP00000017350;dystrophin-related protein 1 APPROVED protein-coding ENSG00000152818 HGNC:12635 00547 128240 REVIEWED 1317170 UVRAG UV radiation resistance associated This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008] 11 11 11 q13.5 72834011 73163074 + 75526212 75855282 + 75815167 76144238 + 1580863;4889529;6480464;8554872 20034776 10798355;12477932;12928850;14702039;14737099;16344560;16799551;17106237;17891140;18495205;18552835;18641390;18843052;19270696;19608861;20163458;20379614;20562859;20643123;20724836;21139048;21241894;21597469;21606679;21963094;22314358;22493499;22542840;23200933;2332174;24550300;24980960;8125298;9169138;9533029 7405 B7Z6A0;E9PK00;E9PR71;H0YDD1;Q9P2Y5 AB012958;ABBA01017455;ABBA01017456;ABBA01017457;ABBA01017458;ABBA01017459;AK095352;AK222772;AK291011;AK293782;AK296871;AK311341;AK316133;AMYH02025123;AMYH02025124;AMYH02025125;AMYH02025126;AMYH02025127;AP002340;AP003031;AP003168;BC013176;BC064837;CH471076;DB087351;KC877436;KF511159;NM_003369;X99050;XM_005274209;XM_006718673;XM_006718674;XM_006718675 AAH64837;BAA90829;BAD96492;BAF83700;BAG53033;BAG57197;BAG59434;BAH14504;CAA67507;EAW74986;EAW74987;NP_003360;Q9P2Y5;XP_005274266;XP_006718736;XP_006718737;XP_006718738 Hs.202470 1338714;1668720;1684642;1704106;1709144;1712955;1720229;1723377;1724261;1726973;1737871;1739185;1739789;1782290;1851747;2171810;2172566;2185822 D11S1321;D11S2405;D11S3474;D11S3956;D11S4054E;G02246;G17578;G62733;RH120567;RH121273;RH123240;RH123863;RH91319;SHGC-112556;SHGC-37600;SHGC-83374;SHGC-85733;WI-11862 DHTX;VPS38;p63 OTTHUMP00000229362;OTTHUMP00000229363;UV radiation resistance-associated gene protein;beclin 1 binding protein;disrupted in heterotaxy APPROVED protein-coding HGNC:12640 03929 602493 REVIEWED 735448 VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2) The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 8089806 8093640 - 8062465 8066293 - 8159147 8162975 - 2302393;2302397;2311087;2312656;6480464;6484113;6907045 17717074;18431594;18570632;19295123 10036234;10099709;10100611;10194441;10336434;10370136;10449403;10662545;10713150;10820264;10965122;11031247;11101518;11252894;11278762;11295657;11524423;11786915;11832227;11842301;11994746;12093152;12130530;12181340;12200427;12417022;12477932;12485399;12517971;12750892;12773094;12828989;12832401;12847087;12853575;14702039;15217342;15327778;15610015;16195891;17001002;17196367;17207965;17255364;17313651;17331077;17356306;18182011;18511417;18511418;18512733;18628682;19478182;19546860;19557857;1976629;19822142;20416077;20471030;20676083;21139048;21565611;21808019;21890473;21906983;21963094;21987572;22053931;22172278;22505724;22645275;22890573;22939629;22956769;23000965;24164654;24250222;24816145;7499863;7553862;7622514;7835332;7961655;8011337;8071310;8125298;8760387;8770861;8973549;8999968;9030619;9341137;9396746;9657962;9658161;9817754;9920726 6844 F8WCA0;J3QRU4;K7ENK9;P63027 ABBA01054898;AC129492;AF135372;AJ225044;AK021522;AK225777;AK289555;AL050223;AMYH02032920;BC002737;BC019608;BC033870;BU625107;CH471108;M36201;M36202;M36203;M36204;M36205;NM_014232;XM_005256775 AAA60604;AAF15551;AAH02737;AAH19608;AAH33870;ADQ33174;BAF82244;CAA12385;CAH10733;EAW90086;EAW90087;NP_055047;P63027;XP_005256832 Hs.25348 1777252;2128038;2137839 RH44899;RH55329;WIAF-1699 FLJ11460;SYB2;VAMP-2 OTTHUMP00000196787;OTTHUMP00000196788;synaptobrevin 2;synaptobrevin-2;vesicle associated membrane protein 2;vesicle-associated membrane protein 2 APPROVED protein-coding ENSG00000220205 HGNC:12643 01717 185881 REVIEWED 736120 VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1) Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014] 12 12 12 p 8188292 8196732 - 6571403 6579843 - 6462237 6470677 - 1580863;6480464;7240710;8699517;8554872 10544008;12093152;12477932;12878157;16341674;17255364;17903296;18457912;1976629;20301317;20877624;21139048;21330375;21890473;21906983;21963094;21987572;22053931;22289120;22505724;22958904;23000965;24152687;24534378;8663154;8760387;9396746;9657962;9658161;9920726 6843 F5GZV7;P23763 ABBA01017642;AC005840;AF060538;AK289498;AK296294;AK303137;AK309184;AMYH02025951;AU279974;BC023286;BE246448;BE797045;BF338798;BF341451;BI838752;BM837373;BQ717992;CB215628;CH471116;CR542214;CR542231;CR749485;CR989458;M36196;M36197;M36198;M36199;M36200;NM_001297438;NM_014231;NM_016830;NM_199245;NR_123717;R83084;XM_006719011;XM_006719012;XM_006719013;XM_006719014;Z48924 AAA60603;AAC28336;AAH23286;BAF82187;BAG58997;BAG64241;CAA88760;CAG47010;CAG47027;CAH18312;EAW88792;EAW88793;EAW88794;EAW88795;EAW88796;NP_001284367;NP_055046;NP_058439;NP_954740;P23763;XP_006719074;XP_006719075;XP_006719076;XP_006719077 Hs.20021 1657175;1663248;1687734;1733580;1742889;1743987;1798306;2132221;2153950;2182435;7184677;7185104 D12S111E;D12S1215E;D12S900;G41275;GDB:214816;GDB:384731;RH44502;RH80806;STS-M36200;VAMP1_2267 DKFZp686H12131;SPAX1;SYB1;VAMP-1 OTTHUMP00000238453;OTTHUMP00000238454;OTTHUMP00000238455;OTTHUMP00000238560;OTTHUMP00000238561;synaptobrevin 1;synaptobrevin-1;vesicle-associated membrane protein 1 APPROVED protein-coding ENSG00000139190 HGNC:12642 01716 108600;185880 REVIEWED 1350486 VAMP5 vesicle-associated membrane protein 5 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. [provided by RefSeq, Jul 2008] 2 2 2 p11.2 85639815 85648795 + 85811531 85820511 + 85584408 85593388 + 1580863;6480464 11042152;12477932;12682051;15489334;16110299;17255364;21743467;22505724;22990118;24722188;9725904 10791 O95183;Q6FG93 ABBA01075761;AC016753;AF054825;AF077197;AF151025;AK292660;AMYH02004184;BC017891;CH471053;CR542215;NM_006634 AAC97473;AAD26992;AAF36111;AAH17891;AAY24342;ABM82898;ABM86088;BAF85349;CAG47011;EAW99508;NP_006625;O95183 Hs.534373 2110029;2151503;2163148 RH77700;SGC32754;VAMP5_9179 VAMP-5 OTTHUMP00000160670;myobrevin APPROVED protein-coding ENSG00000168899 HGNC:12646 09513 607029 REVIEWED 1347649 VAMP8 vesicle-associated membrane protein 8 This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010] 2 2 2 p12-p11.2 85632880 85637440 + 85804614 85809156 + 85577491 85582033 + 6480464 10336434;10601239;10820264;11029036;11031247;11101518;11112705;11252894;11278762;11694590;11786915;11839770;12130530;12477932;12828989;15489334;15815621;16110299;16195891;16690874;17255364;17975119;17979178;18073581;18253931;18388320;18570918;19023099;19056867;19282863;19374688;19738201;19738360;19752551;19913121;19943878;20089838;20533276;20628086;20706999;20877624;21139048;21486954;21674799;21743467;21890473;21906983;21963094;21987572;21988832;22053931;22144578;22192511;22623428;24550300;25015289;8889548;9144278;9614193;9878266 8673 B8ZZT4;C9JXZ5;Q9BV40 ABBA01075759;ABBA01075760;AC016753;AF053233;AMYH02004184;BC001634;BM702226;BQ227618;BT006700;BX092149;CD367710;CH471053;CR456995;NG_022887;NM_003761 AAC08434;AAH01634;AAP35346;AAY24341;CAG33276;EAW99506;NP_003752;Q9BV40 Hs.714302 1674545;1684064;1721665 D2S2607;G59843;RH98261 EDB;VAMP-8 OTTHUMP00000160683;OTTHUMP00000203083;vesicle-associated membrane protein 8 (endobrevin) APPROVED protein-coding ENSG00000118640 HGNC:12647 04415 603177 REVIEWED 1350434 VAMP7 vesicle-associated membrane protein 7 This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] X X;Y X;Y q28 and Yq12 155267418 155329920 + 155110943 155173433 + 57067800 57130289 + 1580863;4892310;6480464 20548331 10459012;10564831;10655549;10888671;11031247;11076863;11101518;11252894;11278762;11440841;11786915;11840509;12175335;12444103;12477932;12853575;14672948;14993220;15133481;15470500;15489334;15489336;15610015;16195891;16354670;16381901;16430921;16495485;17897319;18029348;18042464;18253931;18362137;18571410;18775314;18819912;19056867;19138172;19451649;19745841;19781582;20144992;20378544;21139048;21609427;21674799;21805468;21890473;21906983;21963094;21987572;22002060;22053931;22188132;22323709;22589474;22951367;23000965;23104059;23217169;23322049;23471971;23741335;24173214;24816145;24880616;6495485;8125298;8640232;9614185 6845 E5RH06;P51809 ABBA01028632;AI042181;AI522002;AJ271736;AJ295938;AJ549301;AK222794;AK293525;AK295605;AK297385;AK312658;AMYH02040903;BC056141;CH471247;DC341378;KF510183;NG_021435;NM_001145149;NM_001185183;NM_005638;NR_033714;NR_033715;X92396;XM_006724835;XM_006724881 AAH56141;BAD96514;BAG35541;BAG57007;BAG58491;BAG59826;CAA63133;CAB96816;CAC16891;CAD70593;CAL38010;EAW55877;EAW55878;EAW55879;EAW55880;EAW55881;EAW55882;EAW55883;NP_001138621;NP_001172112;NP_005629;P51809;XP_006724898;XP_006724944 Hs.24167 1684126;1703068;1740337;5017915 GDB:451553;RH70940;SYBL1;UniSTS:154379 FLJ53045;FLJ53762;FLJ54296;SYBL1;TI-VAMP;VAMP-7 OTTHUMP00000024258;OTTHUMP00000024259;OTTHUMP00000225953;TIVAMP;synaptobrevin-like 1;synaptobrevin-like protein 1;tetanus neurotoxin-insensitive VAMP;tetanus-insensitive VAMP APPROVED protein-coding ENSG00000124333 HGNC:11486 02084 300053 REVIEWED 1319787 VANGL2 VANGL planar cell polarity protein 2 The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011] 1 1 1 q22-q23 133439094 133467201 + 160370364 160398468 + 160400574 160428678 + 1580863;2293492;2298799;6480464;6907045;7240710;8554872;8699517 12011999;17226800 10574462;11431695;12477932;12490194;15195140;15489334;16710414;18034999;18849982;19577357;19734545;20223754;20558380;20738329;21139048;21142127;23579212 57216 A8K4L6;Q9ULK5 AB033041;ABBA01016612;AK290981;AL137558;AL445230;AMYH02002025;BC103920;BG059541;BU162175;BX420618;CH471121;NG_023420;NM_020335;XM_005245357 AAI66628;BAA86529;BAF83670;EAW52717;EAW52718;NP_065068;Q9ULK5;XP_005245414 Hs.99477 1683856;2110797;2161529 AL009375;RH92930;VANGL2__5059 KIAA1215;LPP1;LTAP;MGC119403;MGC119404;STB1;STBM;STBM1 OTTHUMP00000031861;loop-tail protein 1 homolog;loop-tail-associated protein;strabismus 1;van Gogh-like protein 2;vang, van gogh-like 2;vang-like 2 (van gogh, Drosophila);vang-like protein 2 APPROVED protein-coding ENSG00000162738 HGNC:15511 02758 182940;600533 REVIEWED 1320258 VAMP4 vesicle-associated membrane protein 4 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008] 1 1 1 q24-q25 144778698 144820780 - 171669296 171711379 - 171700156 171742239 - 6480464 10359608;10839363;11598115;11839770;12477932;12682051;14608369;14702039;15345747;15489334;15896658;16189514;16344560;17081983;20685960;21805468;21963094;22406549;23585472;23677696;23741335;23798538;8619474;9110174;9553086 8674 O75379;Q6IAZ3 ABBA01027925;AF044310;AF052100;AK056124;AK123624;AK290441;AL035296;AMYH02002142;AMYH02002143;BC005974;BC007019;BC031264;CH471067;CR457011;DB167275;NM_001185127;NM_003762;NR_033704;XR_426805;Z98751 AAC24032;AAH05974;AAH07019;AAH31264;BAF83130;CAA22896;CAG33292;EAW90904;EAW90905;EAW90906;EAW90907;EAW90908;EAW90909;NP_001172056;NP_003753;O75379 Hs.6651 1692332;1692778;1692828;1692836;1696600;1698002;1757155;1770656;2114859;2179061;2179063;2186746;5092936 A009C32;AL033823;AL034156;D1S2351;D1S2532;D1S3031;G32422;G42281;G42285;RH102530;SHGC-144585;SHGC-75917;SHGC-82902 VAMP-4;VAMP24 OTTHUMP00000190887;OTTHUMP00000190888;OTTHUMP00000233988 APPROVED protein-coding ENSG00000117533 HGNC:12645 06070 606909 REVIEWED 1343974 VARS1 valyl-tRNA synthetase 1 7406 HGNC:12650 736779 VAMP3 vesicle-associated membrane protein 3 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008] 1 1 1 p36.23 6939057 6949218 + 7831329 7841492 + 7771269 7781432 + 1580863;4892310;6480464 20548331 10820264;11101518;11278762;11786915;11809765;11839770;12130530;12477932;12556468;12665801;12828989;15489334;15525538;15610015;16169070;16354670;16710414;17255364;18195106;18628682;19061864;19159614;19478182;19781582;19910495;20098747;20299515;20416077;21094665;21102463;21139048;21832049;21890473;21906983;21963094;21987572;22053931;22505724;22573826;22699663;22797925;22939629;23000965;23353890;23813974;24373201;24654937;24816145;24850728;8973549;9396746;9614185;9701566;9817754;9885218 9341 K7EKX0;Q15836;Q6FGG2 ABBA01035489;AK316558;AMYH02000196;BC003570;BC005941;BC007050;BT007327;CH471130;CR542145;CR542154;NM_004781;U64520;Z98884 AAB05814;AAH03570;AAH05941;AAH07050;AAP35991;BAG38147;CAG46942;CAG46951;EAW71582;NP_004772;Q15836 Hs.66708 1667273;2118305;2167630 G06229;SHGC-31853;WI-19810 CEB;VAMP-3 OTTHUMP00000001361;cellubrevin;synaptobrevin-3 APPROVED protein-coding ENSG00000049245 HGNC:12644 04711 603657 REVIEWED 1346332 VARS2 valyl-tRNA synthetase 2, mitochondrial This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014] 6 6 6 p21.33 32480085 32492348 + 30881982 30894236 + 30914205 30926459 + 6480464;6907045;8699517 11572484;12477932;14702039;15779907;18400783;18624398;19116923;19851445;20041166;20186120;20503108;20848476;20877624;21682861;21890473;21906983;23449627;24250222;24827421;25058219 57176 A2ABL6;B4E0K6;B7ZCJ6;Q5ST30 AB067472;ABBA01038067;AK000511;AK025618;AK026063;AK094483;AK125069;AK293780;AK294451;AK303415;AK304807;AK315733;AL122037;AL662854;AL669830;AL773541;AMYH02013438;BC008844;BC009355;BC063427;BC073838;BC112054;BC113605;BC143534;BC143535;BC143536;BX927194;CH471081;CR759747;CR936875;DC307585;NG_034224;NM_001167733;NM_001167734;NM_020442 AAH08844;AAH09355;AAH73838;AAI12055;AAI13606;AAI43537;BAB15191;BAB15344;BAB67778;BAG38088;BAG57195;BAG57688;BAG64468;BAG65557;CAB59177;EAX03348;EAX03349;NP_001161205;NP_001161206;NP_065175;Q5ST30 Hs.597526 1712176;1719959;1759803;1790829;2121279;2160776;2182259;2189457;2220216;2220218;5022200;7184114 D6S1168E;D6S1898;D6S2698;D6S2821;D6S2946;G54139;L18426;MARC_6551-6552:992007295:1;RH123958;RH37251;SHGC-170046 COXPD20;G7a;MGC138259;MGC142165;VARS2L;VARSL;valRS OTTHUMP00000029388;valine tRNA ligase 2, mitochondrial (putative);valine--tRNA ligase;valine--tRNA ligase, mitochondrial;valyl-tRNA synthetase 2, mitochondrial (putative);valyl-tRNA synthetase 2-like;valyl-tRNA synthetase like;valyl-tRNA synthetase, mitochondrial;valyl-tRNA synthetase-like APPROVED protein-coding ENSG00000137411 HGNC:21642 11670 612802;615917 REVIEWED 1352548 VASH1 vasohibin 1 INVOLVED IN angiogenesis; negative regulation of angiogenesis; negative regulation of blood vessel endothelial cell migration; FOUND IN apical part of cell; cytoplasm; endoplasmic reticulum; INTERACTS WITH 17beta-estradiol; 2-methylcholine; 5-aza-2'-deoxycytidine 14 14 14 q24.3 57266828 57287976 + 77228235 77249363 + 76761892 76783020 + 6480464 10470851;10737800;12477932;12508121;15467828;15489334;15649403;16488400;16707096;18029348;18325046;19037993;19057892;19179360;19204325;19498005;19587360;19682397;20035291;20133819;20167561;20736312;21302448;22101788;22438034;22564651;22569265;22675166;22865127;23056314;23100270;23324451;23543668;23591203;23651239;24250222;24366689;24390792;24444468;8619474;9110174 22846 G3V4N9;Q7L8A9 AB028959;ABBA01030671;AC007376;AF055021;AF111169;AK291377;AL041425;AL832588;AMYH02029554;BC009031;BC051896;BE674799;BF741850;CH471061;NM_014909;XM_006720080 AAD44361;AAF02829;AAH09031;AAH51896;BAA82988;BAF84066;CAD89941;EAW81259;EAW81260;NP_055724;Q7L8A9;XP_006720143 Hs.525479 1672843;1679035;1680823;1713741;1777555;2165828 A007F19;IB403;RH120756;RH80391;RH99061;STS-AA021483 KIAA1036 OTTHUMP00000246192;vasohibin-1 protein-coding ENSG00000071246 HGNC:19964 12353 609011 VALIDATED 1602689 VASH2 vasohibin 2 INVOLVED IN positive regulation of angiogenesis; positive regulation of endothelial cell proliferation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH atrazine; copper atom; copper(0) 1 1 1 q32.3 186345429 186386460 + 213123887 213164986 + 212950545 212991644 + 6480464;8554872 12477932;14702039;15489334;16528006;16710414;19204325;21832049;22438034;22614011;22826464;23100270;23548203;23615928 79805 C9JY36;Q86V25 ABBA01048160;AK022567;AK096605;AK290973;AK302675;AL592449;AMYH02002652;AY834202;BC028194;BC051856;BC053836;CB960087;CH471100;DC350527;NM_001136474;NM_001136475;NM_001301056;NM_024749;XM_006711541;XR_247041 AAH28194;AAH51856;AAH53836;AAX39752;BAB14103;BAF83662;BAG63907;EAW93371;EAW93372;EAW93373;NP_001129946;NP_001129947;NP_001287985;NP_079025;Q86V25;XP_006711604 Hs.96885 1647782;1689342;2144658 L17914;RH93064;SHGC-76314 FLJ12505;RP11-275G3.1 OTTHUMP00000035013;OTTHUMP00000035017;OTTHUMP00000228345;OTTHUMP00000228346;OTTHUMP00000228347;vasohibin-2;vasohibin-like protein protein-coding ENSG00000143494 HGNC:25723 08574 610471 VALIDATED 737415 VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 18 18 18 p11.22 9797515 9843493 + 9913955 9960018 + 9913958 9960021 + 61779;1580863;6480464 9920726 10523508;10544080;11511104;12023275;12477932;12761501;14702039;15016871;15326295;15342556;15489334;16227268;16606821;16895911;18029348;18165232;18665321;18713837;19289470;19615732;19665998;19738201;20178991;20360068;20697350;21139048;21144830;21152411;21832049;21890473;21900206;21906983;21957124;21963094;22190034;22268729;22304920;22623428;22810585;22939629;23000965;23142642;23284291;23455922;23956138;24105263;24223774;24250222;24337577;24561123;24569996;24816145;24885147;25036637;9657962 9218 J3QKM9;Q9P0L0 ABBA01049960;ABBA01049961;AC006238;AF044670;AF057358;AF086627;AF154847;AK024299;AK096868;AK123434;AK292948;AK315577;AMYH02034293;BC002992;BC033947;BC042860;BG488667;BG719406;BP209270;BT019618;CH471113;NM_003574;NM_194434 AAC26508;AAD09742;AAD13576;AAF72105;AAH02992;AAV38424;BAF85637;BAG37951;EAX01590;EAX01591;EAX01592;NP_003565;NP_919415;Q9P0L0 Hs.165195 1676089;1681354;1734584;1771434;1851713;2136697;2161858;2162303;2162305;2164805;5022322 A006C24;A006V14;D11S2560;D18S1196;D18S940E;G20701;RH35901;RH76596;RH92706;SHGC-32407;SHGC-34906 MGC3745;VAMP-A;VAP-33;VAP-A;VAP33;hVAP-33 33 kDa VAMP-associated protein;OTTHUMP00000162362;OTTHUMP00000162363;VAMP-associated protein A;vesicle-associated membrane protein, associated protein a;vesicle-associated membrane protein-associated protein A APPROVED protein-coding ENSG00000101558 HGNC:12648 09299 605703 REVIEWED 1319967 VANGL1 VANGL planar cell polarity protein 1 This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 1 1 1 p13.1 114413417 114469666 + 116184574 116240845 + 115641953 115698224 + 1580863;6480464;6907045;7240710;8554872;8699517 11956595;12011995;12477932;15205336;15456783;15489334;15952208;16410243;17409324;19166844;19319979;20043994;20562859;20944126;21139048;21142127;21291170;21418393;21890473;21906983;21963094;21988832;22179838;22505724;22840317;23000965;23602568 81839 Q8TAA9;Q96J52 AB057596;AB075805;ABBA01068475;ABBA01068476;ABBA01068477;AF481859;AK312087;AL450389;AMYH02001789;BC000907;BC032773;BC065272;BC082967;BM146608;BM552933;CH471122;CS185662;HH958077;NG_016548;NM_001172411;NM_001172412;NM_138959;XM_006710935;XM_006710936 AAH00907;AAH32773;AAH65272;AAO61751;BAB86334;BAB86362;BAG35023;CAJ42843;CBX51302;EAW56630;EAW56631;EAW56632;NP_001165882;NP_001165883;NP_620409;Q8TAA9;XP_006710998;XP_006710999 Hs.515130 1342047;1660085;1676898;1678667;1692312;1697374;2168971;2180673;2184741 AL033811;D1S2687;D1S3610;RH102185;RH26190;RH70098;RH99220;SHGC-75371;SHGC-75372 LPP2;MGC5338;STB2;STBM2 KAI1 C-terminal interacting tetraspanin;KITENIN;OTTHUMP00000013750;OTTHUMP00000013751;OTTHUMP00000013752;loop-tail protein 2 homolog;strabismus 2;van Gogh-like protein 1;vang-like 1 (van gogh, Drosophila);vang-like protein 1 APPROVED protein-coding ENSG00000173218 HGNC:15512 18279 182940;600145;610132 REVIEWED 735744 VARS valyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33343541 33361958 - 31745295 31763712 - 31777518 31795935 - 1580863;6480464;6907045;8554872 12477932;14574404;14656967;15161933;15489334;15779907;16229838;17353931;18781797;1898367;19380743;19615732;19738201;19851445;19913121;20562859;20628086;21078624;21139048;21145461;21319273;21532573;21890473;21906983;21963094;22053931;22268729;22505724;22623428;22797925;22863883;22939629;23000965;23125841;23602568;24457600;2477242;24816145;24984263;25027693;2556394;3169261;8294461;8428657;8666263 7407 A2ABF4;H0Y426;P26640 ABBA01038086;AF134726;AK300033;AK302762;AL662834;AL662899;AL671762;AL929592;AMYH02013455;BA000025;BC012808;BX248133;CH471081;CR759787;CR759915;CR925765;CX167000;CX781162;M98326;NG_028229;NM_006295;X59303;XM_005249362;XM_005272869;XM_005274886;XM_005275021;XM_005275290 AAA81332;AAD21819;AAH12808;BAB63303;BAG61844;BAG63973;CAA41990;EAX03523;EAX03524;NP_006286;P26640;XP_005249419;XP_005272926;XP_005274943;XP_005275078;XP_005275347 Hs.520026 2140943;2189411 MARC_5263-5264:991939538:11;STS-AA035265 G7A;VARS1;VARS2;valRS OTTHUMP00000029422;valine tRNA ligase 1, cytoplasmic;valine--tRNA ligase;valyl-tRNA synthetase 2 APPROVED protein-coding ENSG00000204394 HGNC:12651 10362 192150 REVIEWED 1605593 VASN vasorin ENCODES a protein that exhibits transforming growth factor beta binding; INVOLVED IN negative regulation of epithelial to mesenchymal transition; negative regulation of transforming growth factor beta receptor signaling pathway; FOUND IN cell surface; extracellular space; extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 16 16 16 p13.3 4630756 4642436 + 4421849 4433529 + 4371848 4383528 + 6480464 12477932;12975309;15247411;15489334;16335952;17897319;19056867;21906983;21963094;21987572;22863883;22939629 114990 Q6EMK4 ABBA01026771;AC012676;AMYH02031323;AY166584;AY358298;AY358299;BC013767;BC068575;CH471112;NM_138440 AAH13767;AAH68575;AAO27704;AAQ88665;AAQ88666;EAW85311;NP_612449;Q6EMK4 Hs.372579 2180176 SHGC-56815 SLITL2 OTTHUMP00000159843;slit-like 2 protein-coding ENSG00000168140 HGNC:18517 10587 608843 VALIDATED 68452 VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 53704711 53762426 + 56964175 57026157 + 58389119 58451101 + 61779;1580863;5688230;6480464;7240710;8554872;8699517 15372378;9920726 10657150;10820264;10931946;11780052;12130530;12477932;12651853;12665801;12975309;14702039;15060112;15489334;15545272;16227268;16344560;16565220;16571669;16606821;16729899;16891305;16895911;17081983;17207965;17215244;17536055;17540579;17804640;17947296;18029348;18165232;18322265;18555774;18677189;18701194;18713837;19165527;19289470;19515777;19615732;20008544;20207736;20227395;20301623;20360068;20377183;20447143;20472325;20477942;20577002;20940299;21103663;21139048;21144830;21685205;21890473;21906983;21998752;22069488;22131369;22234250;22258555;22454507;22611258;22720086;22810585;22815741;22878164;22939629;23000965;23049696;23246001;23281774;23333387;23446633;23455922;23771029;23971766;24212516;24250222;24583282;24816145;24885147;25036637;8889548 9217 E5RK64;O95292;Q53XM7;Q6ZSP7 AB209665;ABBA01005978;AF086628;AF086629;AF160212;AK023241;AK024771;AK025720;AK123388;AK123538;AK124571;AK127252;AK128422;AK298036;AL035455;AL118513;AL833440;AMYH02037363;AMYH02037364;AMYH02037365;AMYH02037366;AY358464;BC001712;BM968517;BT009811;CH471077;DA450527;KF456960;NG_008073;NM_001195677;NM_004738;NR_036633;XM_006723888 AAD13577;AAD13578;AAF67013;AAH01712;AAP88813;AAQ88829;ADQ31858;BAC86901;BAC87433;BAD92902;BAG51174;BAG53909;BAG60336;EAW75493;EAW75494;EAW75495;NP_001182606;NP_004729;O95292;XP_006723951 Hs.182625 1335564;1335925;1340914;1342071;1672286;1672444;1760191;1856426;2120494;2131517;2142970;2176316;2218874;7190809 A004M26;D20S1102;D20S164;D20S171;D20S173;D20S430;RH44172;SHGC-132475;SHGC-32592;STS-AA009675;VAPB__5060;WI-16045;WI-19552 ALS8;VAMP-B;VAMP-C;VAP-B;VAP-C OTTHUMP00000031393;OTTHUMP00000174286;VAMP-B/VAMP-C;VAMP-associated 33 kDa protein;VAMP-associated protein B;VAMP-associated protein B/C;VAMP-associated protein C;VAP-B/VAP-C;vesicle-associated membrane protein, associated protein b and c;vesicle-associated membrane protein-associated protein B/C APPROVED protein-coding ENSG00000124164 HGNC:12649 09300 182980;605704;608627 REVIEWED 1605968 VAT1L vesicle amine transport 1-like ENCODES a protein that exhibits oxidoreductase activity (inferred); zinc ion binding (inferred); INVOLVED IN oxidation-reduction process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; carmustine 16 16 16 q23.1 62120178 62312112 + 77822483 78014001 + 77788586 77980104 + 6480464;8554872 10997877;12477932;14702039;15489334;17207965;19844255;20889312;21832049;23000965;23535033 57687 Q8NDE0;Q9HCJ6 AB046796;ABBA01017028;ABBA01017029;ABBA01017030;ABBA01017031;AC010650;AC092134;AK001256;AK290153;AL834240;AMYH02032431;BC033537;CH471114;NM_020927 AAH33537;ADQ31788;BAB13402;BAF82842;CAD38917;EAW95594;NP_065978;Q9HCJ6 Hs.461405 1653992;1683681;1707170;1723763;1726621;1734446;1738677;1755331;1783330 D16S2793;D17S1415E;G62545;RH118617;RH64963;RH70446;SHGC-112002;SHGC-142216;SHGC-79169 KIAA1576 synaptic vesicle membrane protein VAT-1 homolog-like;vesicle amine transport protein 1 homolog (T. californica)-like;vesicle amine transport protein 1 homolog-like (T. californica) APPROVED protein-coding ENSG00000171724 HGNC:29315 13875 PROVISIONAL 1319007 VAT1 vesicle amine transport 1 Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided by RefSeq, Jul 2008] 17 17 17 q21 37822892 37831323 - 41166622 41174459 - 43014605 43022442 - 1580863;6480464 12477932;14702039;15489334;17105775;17255364;19056867;19508442;19615732;20000738;20858461;21139048;21319273;21890473;21906983;22053931;22505724;22863883;22939629;23000965;23166591;23443559;23874603;24244333;24816145;7545954;7581362;7774926;7987831;8076819;8938427 10493 K7EJM4;K7EM19;K7ENX2;K7ER81;K7ERT7;K7ESA3;Q99536 ABBA01006393;AC055866;AC135721;AK097072;AK290460;AK298536;AK315838;AMYH02033445;AMYH02033446;AMYH02033447;BC001913;BC008725;BC014279;BC015041;BC068489;BC090858;BT007369;CH471152;L78833;NM_006373;U18009;U25779 AAA93230;AAA95990;AAC37596;AAH01913;AAH08725;AAH14279;AAH15041;AAH90858;AAP36033;ADR82767;BAF83149;BAF98729;BAG53420;BAG60736;EAW60917;EAW60918;NP_006364;Q99536 Hs.514199 1647686;2108987;2109425;2115001;2138751;2145191;2172886 A002O37;G30666;HSC1IB122;IFI35_8415;RH79132;STS-AA025690;VAT1_9121 FLJ20230;VATI membrane protein of cholinergic synaptic vesicles;synaptic vesicle membrane protein VAT-1 homolog;vesicle amine transport protein 1 homolog (T. californica);vesicle amine transport protein 1 homolog (t californica) APPROVED protein-coding ENSG00000108828 HGNC:16919 05220 604631 VALIDATED 1323055 VASP vasodilator-stimulated phosphoprotein Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 42816794 42836352 + 46010688 46030247 + 45507430 45526989 + 1580863;6480464;6484113 10087267;10438535;10637295;10747096;10801818;10851246;10882740;10892742;10922374;10990454;11093254;11313394;11598004;11756574;12087107;12220179;12372613;12397215;12477932;12492113;12566781;12571287;12576312;12652017;12665801;12695497;12805219;1318192;1319722;14506234;14557252;14592989;14679200;14706852;15148305;15158464;15178555;15469845;15469846;15489334;15569942;15592455;15634270;15642358;15939738;16046415;16055720;16189514;16197368;16336193;16531412;16631741;16940418;17082196;17167837;17351763;17488353;17599063;17684063;17914456;17938817;18029348;18064332;18217157;18278200;18559661;18569864;18680720;18813837;18832777;18845790;18923426;19056867;19059569;19060904;19081821;19115233;19380743;19435808;19463377;19542561;19608861;19690214;19738201;19798690;19825941;19885626;19902490;19943879;20044140;20110575;20195357;20589315;20618440;20624010;20695985;20802179;20822337;20826790;20945373;21041447;21139048;21158099;21163344;21398369;21423205;21702043;21814501;21827504;21874265;21890473;21906983;22014333;22210825;22212857;22320863;22623428;22863883;22939629;23000965;23402259;23436459;23443559;23469931;23685951;23846685;24816145;24857403;7644520;7737110;7828592;7925440;8182057;8812448 7408 K7EIG8;K7EM16;K7ENL7;K7ENR7;K7EQD0;P50552 ABBA01040932;ABBA01040933;ABBA01040934;ABBA01040935;AC006117;AK314812;AL556269;AMYH02036200;AMYH02036201;AMYH02036202;AMYH02036203;BC026019;BC038224;BG751094;BG825983;CH471126;NM_003370;X98534;XM_005259199;XM_005259200;Z46389 AAH26019;AAH38224;BAG37336;CAA67147;CAA86523;EAW57362;EAW57363;EAW57364;EAW57365;NP_003361;P50552;XP_005259256;XP_005259257 Hs.515469 1662489;2108985;2189545 D19S1038;UniSTS:235612;VASP_8715 APPROVED protein-coding ENSG00000125753 HGNC:12652 03415 601703 REVIEWED 6480816 VAV3-AS1 VAV3 antisense RNA 1 1 1 108507065 108537229 + 107964443 107994607 + 11329013 100873946 ABBA01028423;ABBA01028424;AL390036;AL391235;AMYH02001660;BG193383;CR744964;HG492359;NR_046653 Hs.568676 1688586 RH92835 RP11-356N1.1 APPROVED ncrna ENSG00000230489 HGNC:40608 VALIDATED 1342500 UTY ubiquitously transcribed tetratricopeptide repeat containing, Y-linked This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012] X Y Y q11 2342975 2575256 - 15360259 15592550 - 13248379 13480670 - 1580863;6480464 10679124;10767340;10861003;11049993;12477932;12665801;12815422;14660691;15758204;17452356;18029348;18511697;18976975;19047629;21329462;21988832;8944031;9381176;9499428;9854018 7404 A6NCS7;E1NZ93;E1U198;E1U1M3;E1U1M9;F4MH27;F4MH29;F4MH30;F4MH31;F4MH32;F4MH35;F4MH36;F4MH40;F4MH46;F4MH47;F4MH50;F4MH51;F4MH58;F4MH60;F4MH62;F4MH91;F4MH92;F4MHE7;F5GWV3;F5H3N7;F5H8B4;O14607 ABBA01065511;ABBA01065512;ABBA01065513;ABBA01065514;ABBA01065515;ABBA01065516;ABBA01065517;ABBA01065518;ABBA01065519;ABBA01065520;ABBA01065521;ABBA01065522;ABBA01065523;ABBA01065524;ABBA01065525;ABBA01065526;ABBA01065527;ABBA01065528;ABBA01065529;ABBA01065530;ABBA01065531;ABBA01065532;ABBA01065533;ABBA01065534;ABBA01065535;ABBA01065536;ABBA01065537;ABBA01065538;ABBA01065539;ABBA01065540;ABBA01065541;ABBA01065542;ABBA01065543;ABBA01065544;ABBA01065545;ABBA01065546;ABBA01065547;ABBA01065548;ABBA01065549;ABBA01065550;ABBA01065551;AC005820;AC006376;AC010877;AF000994;AF000995;AF000996;AF132076;AF265575;AK292858;AK308952;AY591407;AY682463;AY730613;AY769061;AY769062;AY769063;AY769064;AY769065;AY769066;AY769067;AY769068;AY769069;AY934848;AY934849;AY934850;AY934851;AY934852;AY934853;AY934854;AY934855;AY934856;AY934857;BC012581;BC029389;BC051718;BC071744;CH471155;CR936684;DQ012094;DQ140388;DQ140389;DQ140390;DQ341385;DQ341386;DQ341387;DQ345542;DQ345543;DQ345544;DQ350456;DQ350457;DQ350458;DQ350459;EF491796;EF612660;EF612661;EF612662;EF612663;EF612664;EF612665;EF612666;EF612667;EF612668;EF612669;EF612670;EF612671;EF612672;EF612673;EF612674;EF612675;EF612676;EF612677;EF612678;EF612679;EF612680;EF612681;EF612682;EF612683;EF612684;EF612685;EF612686;EF612687;EF612688;EF612689;EF612690;EF612691;EF612692;EF612693;EF612694;EF612695;EF612696;EF612697;EF612698;EF612699;EF653165;EF653166;EF653167;EF653168;EF653169;EF653170;EF653171;EF653172;EF653173;EF653174;EF653175;EF653176;EF653177;EF653178;EF653179;EF653180;EF653181;EF653182;EF653183;EF653184;EF653185;EF653186;EF653187;EF653188;EF653189;EF653190;EF653191;EF653192;EF653193;EF653194;EF653195;EF653196;EF653197;EF653198;EF653199;EF653200;EF653201;EF653202;EF653203;EF653204;EF653205;EF653206;EF653207;EF653208;EF653209;EF653210;EF653211;EF653212;EF653213;EF653214;EF653215;EF653216;EF653217;EF653218;EF653219;EF653220;EF653221;EF653222;EF653223;EF653224;EF685283;EF685284;EF685285;EF685286;EF685287;EF685288;EF685289;EF685290;EF685291;EF685292;EF685293;EF685294;EF685295;EF685296;EF685297;EF685298;EF685299;EF685300;EF685301;EF685302;EF685303;EF685304;EF685305;EF685306;EF685307;EF685308;EF685309;EF685310;EF685311;EF685312;EF685313;EF685314;EF685315;EF685316;EF685317;EF685318;EF685319;EF685320;EF685321;EF685322;EF685323;EF685324;EF685325;EF685326;EF685327;EF685328;EF685329;EF685330;EF685331;EF685332;EF685333;EF685334;EF685335;EF685336;EF685337;EF685338;EF685339;EF685340;EF685341;EF685342;EU026275;EU026276;EU026277;EU026278;EU026279;EU026280;EU026281;EU026282;EU026284;EU026285;EU026286;EU026287;EU026288;EU026289;EU026290;EU026292;EU026293;EU026294;EU026295;EU026296;EU026297;EU026298;EU026299;EU026300;EU026301;EU026302;EU026303;EU026304;EU026305;EU026306;EU026307;EU026308;EU026309;EU026310;EU026311;EU026312;EU026313;EU026314;EU026315;EU026316;EU026317;EU026318;EU026319;EU026320;EU026321;EU026322;EU026323;EU026324;EU026325;EU026326;EU026327;EU026328;EU026329;EU026330;EU026331;EU026332;EU026333;EU026334;EU026335;EU026336;EU026337;EU026338;EU026339;EU026340;EU026341;EU026342;EU026343;EU026344;EU026345;EU026346;EU026347;EU026348;EU026349;EU026350;EU026351;EU116343;EU116344;EU116345;EU116346;EU116347;EU116348;EU116349;EU116350;EU116351;EU116352;EU116353;EU163941;EU163942;EU163943;NM_001258249;NM_001258250;NM_001258251;NM_001258252;NM_001258253;NM_001258254;NM_001258255;NM_001258256;NM_001258257;NM_001258258;NM_001258259;NM_001258260;NM_001258261;NM_001258262;NM_001258263;NM_001258264;NM_001258265;NM_001258266;NM_001258267;NM_001258268;NM_001258269;NM_001258270;NM_007125;NM_182659;NM_182660;NR_047596;NR_047597;NR_047598;NR_047599;NR_047600;NR_047601;NR_047602;NR_047603;NR_047604;NR_047605;NR_047606;NR_047607;NR_047608;NR_047609;NR_047610;NR_047611;NR_047612;NR_047613;NR_047614;NR_047615;NR_047616;NR_047617;NR_047618;NR_047619;NR_047620;NR_047621;NR_047622;NR_047623;NR_047624;NR_047625;NR_047626;NR_047627;NR_047628;NR_047629;NR_047630;NR_047631;NR_047632;NR_047633;NR_047634;NR_047635;NR_047636;NR_047637;NR_047638;NR_047639;NR_047640;NR_047641;NR_047642;NR_047643;NR_047644;NR_047645;NR_047646;NR_047647;XM_005262518;XM_006724875;XM_006724876 AAC51841;AAC51842;AAC51843;AAF36521;AAF77052;AAH51718;AAH71744;AAI40392;AAT86083;AAU87837;AAU93524;AAX07231;AAX07232;AAX07233;AAX07234;AAX07235;AAX07236;AAX07237;AAX07238;AAX07239;AAY16579;AAY16580;AAY16581;AAY16582;AAY16583;AAY16584;AAY16585;AAY16586;AAY16587;AAY16588;AAY68207;ABA25869;ABA25870;ABA25871;ABC73373;ABC73374;ABC73375;ABC73376;ABC75707;ABC75708;ABC75709;ABC87284;ABC87285;ABC87286;ABR09226;ABR09227;ABR09228;ABR09229;ABR09230;ABR09231;ABR09232;ABR09233;ABR09234;ABR09235;ABR09236;ABR09237;ABR09238;ABR09239;ABR09240;ABR09241;ABR09242;ABR09243;ABR09244;ABR09245;ABR09246;ABR09247;ABR09248;ABR09249;ABR09250;ABR09251;ABR09252;ABR09253;ABR09254;ABR09255;ABR09256;ABR09257;ABR09258;ABR09259;ABR09260;ABR09261;ABR09262;ABR09263;ABR09264;ABR09265;ABS19004;ABS19005;ABS19006;ABS19007;ABS19008;ABS19009;ABS19010;ABS19011;ABS19012;ABS19013;ABS19014;ABS19015;ABS19016;ABS19017;ABS19018;ABS19019;ABS19020;ABS19021;ABS19022;ABS19023;ABS19024;ABS19025;ABS19026;ABS19027;ABS19028;ABS19029;ABS19030;ABS19031;ABS19032;ABS19033;ABS19034;ABS19035;ABS19036;ABS19037;ABS19038;ABS19039;ABS19040;ABS19041;ABS19042;ABS19043;ABS19044;ABS19045;ABS19046;ABS19047;ABS19048;ABS19049;ABS19050;ABS19051;ABS19052;ABS19053;ABS19054;ABS19055;ABS19056;ABS19057;ABS19058;ABS19059;ABS19060;ABS19061;ABS19062;ABS19063;ABV49411;ABV49412;ABV49413;ABV49414;ABV49415;ABV49416;ABV49417;ABV49418;ABV49419;ABV49420;ABV49421;ABV49422;ABV49423;ABV49424;ABV49425;ABV49426;ABV49427;ABV49428;ABV49429;ABV49430;ABV49431;ABV49432;ABV49433;ABV49434;ABV49435;ABV49436;ABV49437;ABV49438;ABV49439;ABV49440;ABV49441;ABV49442;ABV49443;ABV49444;ABV49445;ABV49446;ABV49447;ABV49448;ABV49449;ABV49450;ABV49451;ABV49452;ABV49453;ABV49454;ABV49455;ABV49456;ABV49457;ABV49458;ABV49459;ABV49460;ABV49461;ABV49462;ABV49463;ABV49464;ABV49465;ABV49466;ABV49467;ABV49468;ABV49469;ABV49470;ABV82606;ABV82607;ABV82608;ABV82609;ABV82610;ABV82611;ABV82612;ABV82613;ABV82615;ABV82616;ABV82617;ABV82618;ABV82619;ABV82620;ABV82621;ABV82623;ABV82624;ABV82625;ABV82626;ABV82627;ABV82628;ABV82629;ABV82630;ABV82631;ABV82632;ABV82633;ABV82634;ABV82635;ABV82636;ABV82637;ABV82638;ABV82639;ABV82640;ABV82641;ABV82642;ABV82643;ABV82644;ABV82645;ABV82646;ABV82647;ABV82648;ABV82649;ABV82650;ABV82651;ABV82652;ABV82653;ABV82654;ABV82655;ABV82656;ABV82657;ABV82658;ABV82659;ABV82660;ABV82661;ABV82662;ABV82663;ABV82664;ABV82665;ABV82666;ABV82667;ABV82668;ABV82669;ABV82670;ABV82671;ABV82672;ABV82673;ABV82674;ABV82675;ABV82676;ABV82677;ABV82678;ABV82679;ABV82680;ABV82681;ABV82682;ABV82683;ABV82684;ABV82685;ABV82686;ABV82687;ABV82688;ABV82689;ABV82690;ABV82691;ABV82692;ABV82693;ABW16939;ABW16940;ABW16941;BAF85547;EAW91613;NP_001245178;NP_001245179;NP_001245180;NP_001245181;NP_001245182;NP_001245183;NP_001245184;NP_001245185;NP_001245186;NP_001245187;NP_001245188;NP_001245189;NP_001245190;NP_001245191;NP_001245192;NP_001245193;NP_001245194;NP_001245195;NP_001245196;NP_001245197;NP_001245198;NP_001245199;NP_009056;NP_872600;NP_872601;O14607;XP_005262575;XP_006724938;XP_006724939 Hs.115277 1646321;1690804;1711874;1747093;1747303;1747305;1747307;1747309;1747311;1747313;1747315;1747317;1747319;1747321;1747323;1747325;1747327;1747329;1789691;2113586;2151735;2188367;2188373;2188829;2188831;2188875;2190405;2190407;2190409;2190411;2190413;2190415;5021660;5021662;5021664;5021666;5021750;5021830;5022909;5022911;5022913;5022915;5023027;5093774;5115778;5115780;5115782;5115784;5115786;5115788;5115790;5115792;5115794;5115796;5115798;5115800;5115802;5115804;5115806;5115808;5115810;5115812;5115814;5115816;5115818;5115976;5116372;5116374;5116384;5116386 A009W21;G32915;G34977;G49471;G64986;G65227;G65228;G65229;G65230;G65231;G65232;G65233;G65241;G65246;G65247;G65248;G65249;G65250;G65251;G65841;G65842;G65947;G66222;G66226;M225;M229;M230;M231;M233;M234;RH79927;UTY-1;UTY-10;UTY-11;UTY-12;UTY-13;UTY-14;UTY-15;UTY-16-1;UTY-16-2;UTY-17;UTY-18;UTY-19;UTY-2;UTY-20;UTY-20a;UTY-21;UTY-22;UTY-23;UTY-24;UTY-25;UTY-26;UTY-27;UTY-28;UTY-3;UTY-4;UTY-5;UTY-6;UTY-7;UTY-9;UTY3pe;sY1231;sY1767;sY1769;sY2930;sY2931;sY2932;sY2938;sY2939;sY2943 DKFZp686L12190;KDM6AL;UTY1 OTTHUMP00000034500;OTTHUMP00000034501;OTTHUMP00000034502;histone demethylase UTY;tetratricopeptide repeat protein;ubiquitous TPR motif protein UTY;ubiquitously transcribed TPR gene on Y chromosome;ubiquitously transcribed TPR protein on the Y chromosome;ubiquitously transcribed Y chromosome tetratricopeptide repeat protein;ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome;ubiquitously transcribed tetratricopeptide repeat gene, Y-linked;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 10;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 100;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 101;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 102;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 103;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 104;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 105;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 106;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 107;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 108;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 109;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 11;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 110;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 111;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 112;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 113;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 114;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 115;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 116;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 117;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 118;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 119;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 12;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 120;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 121;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 122;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 123;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 124;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 125;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 126;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 127;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 128;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 129;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 13;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 130;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 131;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 132;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 133;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 134;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 135;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 136;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 137;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 138;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 139;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 14;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 140;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 141;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 142;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 143;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 144;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 145;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 146;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 147;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 148;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 149;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 15;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 150;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 151;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 152;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 153;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 154;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 155;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 156;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 157;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 158;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 159;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 16;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 160;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 161;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 162;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 163;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 164;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 165;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 166;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 167;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 168;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 169;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 17;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 170;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 171;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 172;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 173;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 174;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 175;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 176;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 177;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 178;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 179;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 18;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 180;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 181;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 182;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 183;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 184;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 185;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 186;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 187;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 188;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 189;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 19;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 190;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 191;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 192;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 193;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 194;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 195;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 196;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 197;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 198;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 199;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 20;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 200;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 201;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 202;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 203;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 204;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 205;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 206;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 207;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 208;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 209;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 21;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 210;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 211;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 212;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 213;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 214;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 215;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 216;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 217;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 218;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 219;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 22;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 220;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 221;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 222;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 223;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 224;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 225;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 226;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 227;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 228;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 229;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 23;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 230;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 231;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 232;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 233;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 234;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 235;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 236;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 237;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 238;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 239;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 24;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 240;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 241;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 242;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 243;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 244;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 245;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 246;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 247;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 248;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 249;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 25;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 250;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 251;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 252;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 253;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 254;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 255;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 256;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 257;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 258;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 259;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 26;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 260;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 261;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 262;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 263;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 264;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 265;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 266;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 267;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 268;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 269;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 27;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 270;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 271;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 272;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 273;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 274;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 275;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 276;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 277;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 278;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 279;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 28;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 280;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 281;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 282;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 283;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 284;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 285;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 286;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 287;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 29;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 30;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 31;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 32;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 33;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 34;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 35;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 36;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 37;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 38;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 39;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 40;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 41;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 42;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 43;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 44;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 45;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 46;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 47;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 48;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 49;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 50;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 51;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 52;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 53;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 54;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 55;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 56;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 57;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 58;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 59;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 60;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 61;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 62;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 63;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 64;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 65;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 66;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 67;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 68;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 69;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 70;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 71;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 72;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 73;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 74;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 75;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 76;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 77;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 78;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 79;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 80;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 81;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 82;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 83;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 84;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 85;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 86;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 87;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 88;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 89;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 90;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 91;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 92;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 93;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 94;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 95;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 96;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 97;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 98;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 99;ubiquitously-transcribed TPR protein on the Y chromosome;ubiquitously-transcribed Y chromosome tetratricopeptide repeat protein APPROVED protein-coding ENSG00000183878;ENSG00000279947 HGNC:12638 02451 400009 REVIEWED 731657 VAX2 ventral anterior homeobox 2 This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008] 2 2 2 p13 70978415 71011262 + 71127720 71160576 + 70900590 70933446 + 724805;1580863;6480464 10485894 12477932;15489334;16953426;17963489;19913121;20628086;21697133;23322567 25806 F1T0K5;Q9UIW0 AB593145;ABBA01075545;AC007040;AMYH02004044;AMYH02004045;AMYH02004046;BC006336;BT007035;CH471053;NG_030009;NM_012476;XM_006711982;Y17791 AAH06336;AAP35683;BAJ84079;CAB56166;EAW99792;NP_036608;Q9UIW0;XP_006712045 Hs.249170 1775216;1792984 PMC17951P1;RH77957 DRES93 OTTHUMP00000160128 APPROVED protein-coding ENSG00000116035 HGNC:12661 05051 604295 REVIEWED 1351722 VAX1 ventral anterior homeobox 1 This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q26.1 112617376 112627160 - 118888032 118897812 - 117128521 117138301 - 6480464;8699517;7240710;8554872 10485894;12477932;14702039;15164054;15489334;17963489;20023658;20301552;22095910;23081944;23463464;23679094;8889548;9636075 11023 Q5SQQ9 ABBA01062950;ABBA01062951;AK127095;AL731557;AMYH02023880;BC101694;BC101696;CH471066;NG_012317;NM_001112704;NM_199131 AAI01695;AAI01697;ABZ92468;BAC86826;EAW49432;EAW49433;NP_001106175;NP_954582;Q5SQQ9 Hs.441536 2141769;2218876;5492329 SHGC-13026;VAX1__5061;Vax1 MCOPS11;MGC126743;MGC126745 OTTHUMP00000020574;OTTHUMP00000180555 APPROVED protein-coding ENSG00000148704 HGNC:12660 16052 604294;614402 REVIEWED 737234 VAV1 vav 1 guanine nucleotide exchange factor This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012] 19 19 19 p13.2 6714968 6799596 + 6772679 6857377 + 6772668 6857366 + 1580863;2303708;2306005;2306008;6480464;6484113;6907045;8554872 10433093;17845203;2064726 10022833;10207103;10347175;10394361;10620604;10662792;10664460;10669724;10669745;10673353;10713703;10725744;10747851;10748082;10760587;10780782;10790433;10867021;10938113;10981967;11133830;11262396;11287617;11328862;11331248;11368773;11390470;11463741;11525746;11716957;11756498;11790798;11839310;11857085;11859076;12055221;12084069;12186560;12234921;12376548;12376551;12386169;12393632;12400014;12477932;12496381;12616499;12734410;12755701;12787561;12881521;12884293;12885870;12917349;12920122;1375396;14597672;14673152;14709332;14757747;15182247;15345594;15546961;15558030;15592455;15618286;15618472;15652748;1565462;15688026;15696170;15699036;15817684;15850391;15872091;15878332;15882624;16091223;16273093;16289966;16339550;16356860;16397238;16454711;16461343;16467851;16728400;17015707;17050525;17060455;17237383;17275330;17306257;17550897;17590270;17707624;17716865;18029348;18067320;18094167;18160397;18160398;18295596;18473783;18589439;18692475;18835194;18974050;19018007;19149577;19207108;19597340;19635790;19747912;19880579;19913121;20011522;20028078;2005887;20141838;20155735;20189481;20237496;20439986;20562827;20628086;2069873;21151158;21206905;21344162;21386095;21632469;21647562;21738584;21756249;21856460;21890473;21900206;21906983;21948080;21994733;22253833;22323535;22351766;22395814;22505724;22534133;22745667;22844345;22864683;22974441;23022380;23058036;23271736;23325923;23342133;23376399;23420881;23459936;23537630;23559827;23847689;23856093;23986795;24332539;2477241;24816145;7478592;7528218;7530656;7535775;7651724;7768923;7798261;7809090;7862126;8051112;8125298;8432525;8524317;8530437;8554611;8570203;8621483;8622875;8632004;8649418;8703037;8900182;8986718;9013873;9032261;9047237;9115846;9162069;9200440;9201297;9269777;9341187;9399639;9400828;9438848;9489702;9620604;9697839;9822663;9880513;9891995 7409 B2R8B5;F5H5P4;P15498;Q96D37 ABBA01051474;ABBA01051475;ABBA01051476;AC010647;AC020895;AC020954;AC022156;AF030201;AF030202;AF030203;AF030204;AF030205;AF030206;AF030207;AF030208;AF030209;AF030210;AF030211;AF030212;AF030213;AF030214;AF030215;AF030216;AF030217;AF030218;AF030219;AF030220;AF030221;AF030222;AF030223;AF030224;AF030225;AF030226;AF030227;AF216848;AF216849;AF216850;AF216851;AK225710;AK301128;AK313307;AMYH02035362;AW105491;BC013361;CH471139;DC408645;M59834;NM_001258206;NM_001258207;NM_005428;X16316;X83931;XM_005259642 AAA63267;AAC25011;AAH13361;BAG36112;BAG62721;CAA34383;CAA58783;EAW69057;EAW69058;NP_001245135;NP_001245136;NP_005419;P15498;XP_005259699 Hs.116237 1688314;1732217;2190991 D19S534;MARC_12285-12286:1005663674:1;RH80857 VAV oncogene vav;proto-oncogene vav;vav 1 oncogene;vav proto-oncogene APPROVED protein-coding ENSG00000141968 HGNC:12657 01284 164875 REVIEWED 1352433 VBP1 von Hippel-Lindau binding protein 1 The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. Because it functions as a chaperone protein, it is suspected that it may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear granules to the nucleus or cytoplasm. [provided by RefSeq, Jul 2008] X X X q28 154603029 154626576 + 154425290 154468098 + 155197013 155239817 + 6480464 10441001;12169691;12477932;12579260;12591739;12613020;14634002;14729622;15063765;15489334;15572213;15772651;16344560;16856496;17698809;18029348;19156129;19232540;19615732;20360068;21139048;21572988;21890473;21900206;21906983;22190034;22844532;22863883;22939629;23000965;23349634;23602568;23752268;23863879;23964080;24816145;25036637;8674032;9339366;9630229;9931330 7411 B4DWR3;F5H2A7;P61758 AA781721;ABBA01029132;ABBA01029133;AK301646;AK313420;AL356738;AMYH02040867;BC009570;BC040002;BC046094;BG575380;BT019604;BX682237;CH471172;CR541932;DA610631;NG_013269;NM_003372;U56833;U96759;XM_005274729;Y17394 AAC23907;AAC50617;AAH46094;AAV38411;BAG36212;BAG63125;CAA76761;CAG46730;CAI41469;EAW72627;EAW72628;EAW72629;EAW72630;NP_003363;P61758;XP_005274786 Hs.436803 1653160;1680325;1721043;1855611;2135068;2218878 G59503;RH35912;RH36657;VBP1__5062;WI-15153;WIAF-2536 PFD3;PFDN3;VBP-1 HIBBJ46;OTTHUMP00000024252;VHL binding protein-1;VHL-binding protein 1;prefoldin 3;prefoldin subunit 3;von Hippel-Lindau-binding protein 1 APPROVED protein-coding ENSG00000155959 HGNC:12662 02135 300133 REVIEWED 1314818 VAV2 vav 2 guanine nucleotide exchange factor VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 9 9 9 q34.1 107174789 107404640 - 136627016 136857496 - 133761894 133992374 - 1580863;6480464;6484113;6907045;8554872 10022833;10394361;10618391;10938113;10982832;11076863;11080163;11262396;11313921;11390470;11448999;11463741;11516622;11525746;11606575;11756498;11909943;12376548;12376551;12454019;12477932;12734410;12787561;12810717;12884293;14597672;14702039;15345594;15479739;15489336;15618286;15848800;15850391;16091223;16273093;16356860;16381901;16397238;16454711;17234718;17686471;17707624;18067320;18094167;18271526;18473783;18654987;18729074;18829495;19149577;19322201;19451809;19531499;19826000;19911011;20140013;20140222;20298788;20463313;20598377;20808760;20940296;21738584;21810271;22554804;22750419;22939629;22946057;23033535;23033540;23382691;23402756;23615439;23724134;23847689;23986795;24797263;7762982;8621483;8986718;9115846;9269777;9399639;9438848 7410 P52735 ABBA01021978;ABBA01021979;ABBA01021980;ABBA01021981;ABBA01021982;ABBA01021983;ABBA01021984;ABBA01021985;ABBA01021986;AJ420448;AK091622;AK123314;AK124271;AK130575;AL357934;AL445931;AL590710;AMYH02021838;AMYH02021839;AMYH02021840;AMYH02021841;AMYH02021842;AMYH02021843;AY563001;BC033187;BC043615;BC128448;BC132965;BC132967;BQ050947;BQ071939;BX640754;CH471090;NG_029725;NM_001134398;NM_003371;S76992;XM_005272213;XM_006717277 AAB34377;AAH33187;AAI32966;AAI32968;AAS75591;BAC85822;CAE45861;CAL37891;CAL38383;EAW88107;EAW88108;EAW88109;NP_001127870;NP_003362;P52735;XP_005272270;XP_006717340 Hs.369921;Hs.689325 1659438;1711212;1721215;1721297;1721891;1722171;1729823;1738297;1738319;1738325;1738327;1738333;1738339;1738345;1738349;1738353;1789595;2108989;2115282;2145094;2157140;2164294;5019865;5094172;5094224;7183838;7184634 D9S10;D9S1336;D9S1337;D9S1339;D9S1347;D9S1350;D9S1351;D9S1358;D9S1361;D9S66;G54584;G54588;G54622;G59448;G59645;G59976;G60137;GL4-1;RH47757;RH65704;SHGC-2757;SHGC-31720;SHGC-85362;VAV2_8717;WI-16717 VAV-2 OTTHUMP00000022507;OTTHUMP00000022508;OTTHUMP00000022509;guanine nucleotide exchange factor VAV2;oncogene VAV2;vav 2 oncogene APPROVED protein-coding ENSG00000160293 HGNC:12658 02694 600428 REVIEWED 6481395 VCAN-AS1 VCAN antisense RNA 1 q14.3 100873929 AC026696;AI819270 Hs.643801 APPROVED ncrna HGNC:40163 1353825 VCF velocardiofacial syndrome 1360769 7413 HGNC:12664 1343957 VAV3 vav 3 guanine nucleotide exchange factor This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 106288518 106682258 - 108113782 108507545 - 107571160 107964923 - 1580863;6480464;6484113;6907045 10523675;10713454;10938113;11094073;11756498;11805146;12376548;12400014;12477932;12577067;12787561;14702039;14757747;15456756;15708849;16273093;16384856;16762975;17875758;18079321;18518979;18654987;19008376;19429868;19546854;19911011;19913121;20126983;20140222;20379614;20463313;20628086;20936779;21455584;21706016;21765461;21822214;21906983;22416266;22493691;22544459;22659453;23023561;23033535;23033540;23281476;23402756;23403204;23566222;23648065;24072493;24388013;24816145;8622875;9269777;9705494 10451 E9PMJ5;H0YCG7;H0YDG2;Q9UKW4 ABBA01028424;ABBA01028425;ABBA01028426;ABBA01028427;ABBA01028428;AC114491;AF035442;AF067817;AF118886;AF118887;AI304566;AK097750;AK295166;AK296537;AK300474;AK304088;AK316295;AL353892;AL391235;AL513206;AL591042;AMYH02001658;AMYH02001659;AMYH02001660;BC143969;CH471156;DR002311;NM_001079874;NM_006113;XM_005270359;XM_005270360;XM_005270361 AAC79695;AAD03799;AAD20348;AAD20349;AAI43970;AAI46366;AAI56727;BAG58178;BAG62191;BAG64994;BAH12381;BAH14666;EAW51251;EAW51252;NP_001073343;NP_006104;Q9UKW4;XP_005270416;XP_005270417;XP_005270418 Hs.267659 1658812;1669238;1692082;1692556;1704250;1713427;1781568;1857048;2141197;2157751;5106769 AL009700;AL009945;AL033681;AL033925;D1S1574;RH119571;SHGC-145896;SHGC-75253;SHGC-75257;SHGC-83256;STS-AA009655 FLJ40431;VAV-3 OTTHUMP00000012665;OTTHUMP00000233732;OTTHUMP00000233734;OTTHUMP00000233737;guanine nucleotide exchange factor VAV3;vav 3 oncogene APPROVED protein-coding ENSG00000134215 HGNC:12659 05706 605541 REVIEWED 1604797 VCPIP1 valosin containing protein (p97)/p47 complex interacting protein 1 ENCODES a protein that exhibits ubiquitin-specific protease activity; INVOLVED IN protein K11-linked deubiquitination; protein K48-linked deubiquitination; protein ubiquitination (ortholog); FOUND IN cytoplasm; INTERACTS WITH arsenous acid; benzo[a]pyrene; clorgyline 8 8 8 q13 63535483 63572240 - 67542488 67579452 - 66630253 66667217 - 6480464 11076863;11230166;11256614;11347906;12473691;12477932;12509440;14702039;15037600;15231748;15302935;15489334;15489336;16381901;17370265;18654987;18775313;19615732;21139048;21811234;21890473;21906983;21963094;22118674;22505724;22797925;22863883;22902628;23000965;23500464;23827681;24163436;24816145;8125298;8889548 80124 Q96JH7 AB058753;ABBA01041873;ABBA01041874;ABBA01041875;ABBA01041876;AC090154;AK026785;AK225580;AK297345;AL832606;AL834476;AMYH02018109;BC012498;BC049379;BC062426;BC094799;BC118917;BM980302;CH471068;CR936659;NM_025054 AAH49379;AAH94799;BAB15552;BAB47479;BAG59796;CAD39135;CAD89944;CAL37527;CAL38641;EAW86916;NP_079330;Q96JH7 Hs.632066 1341903;1657236;2164904;2169102 D8S1785;RH45986;SGC44568;SHGC-44568 DKFZp686G038;DUBA3;FLJ23132;FLJ60694;KIAA1850;VCIP135 OTTHUMP00000226960;VCP/p47 complex-interacting 135-kDa protein;deubiquitinating protein VCIP135;valosin-containing protein (p97)/p47 complex-interacting protein p135;valosin-containing protein p97/p47 complex-interacting protein 1;valosin-containing protein p97/p47 complex-interacting protein p135 protein-coding ENSG00000175073 HGNC:30897 15645 611745 VALIDATED 1349729 VCAN versican This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 5 5 5 q14.3 78672557 78783162 + 82767493 82878122 + 83471674 83582303 + 1598495;1598496;1598497;1580863;6480464;7240710;8554872;8699517 16311904;16877430;16917090 10198161;10397680;10400671;10571340;10950950;11038354;11083865;11278559;11566024;11726670;11805102;11839575;11932252;12221092;12438652;12477932;12553048;12888576;12907688;12972299;1429726;14558097;14724283;1478664;15073129;15142969;15146197;15336555;15342556;15522894;15590670;15599946;15712181;15748997;15871917;16043844;16110303;16210410;16344560;16431924;16493581;16636652;16648628;16839865;17065588;17097211;17213182;17363913;17453002;17728259;18431253;18484070;18621549;18704747;18819099;19073385;19160015;19269971;19506372;19655167;19662655;19669783;19700613;19717812;19901218;20053631;20201926;20204274;20301747;20379614;20452482;20489207;20516156;20619446;20673868;20729814;21063030;21078678;21136024;21185131;21185747;21244575;21505857;21546273;21596823;21738396;21791066;21828051;21906983;22096483;22155153;22318369;22360420;22393310;22406535;22493503;22711178;22739342;22951719;23002209;23024773;23099107;23180826;23201264;23383108;23424670;23568740;23571384;23963449;24005989;24174867;24180670;2466833;2469524;25036637;2583089;2820964;7528742;7566098;7748141;7806529;7876137;7921538;8601689;8627343;8824283;9294172;9848887 1462 D6RGZ6;E9PF17;P13611;Q59FG9;Q6MZK8;Q86W61 AA320958;AA426499;AA478645;AB209491;ABBA01062084;AC016568;AC020921;AC026696;AF084545;AK296285;AK299770;AK307642;AMYH02011715;BC050524;BP332680;BX641036;CH471084;CN312093;D32039;DA361670;DB497892;DT217515;J02814;NG_012682;NM_001126336;NM_001164097;NM_001164098;NM_004385;S52488;U16306;U26555;X15998 AAA36437;AAA65018;AAA67565;AAB24878;AAD48545;AAH50524;AAI72276;BAA06801;BAD92728;BAH12302;BAH13124;CAA34128;CAE46022;EAW95904;EAW95905;EAW95906;EAW95907;EAW95908;EAW95909;EAW95910;EAW95911;NP_001119808;NP_001157569;NP_001157570;NP_004376;P13611 Hs.643801 1646333;1653937;1670837;1695360;1710054;1765263;1856891;2129982;2170745;5017718 CSPG2;L28255;RH17573;RH35859;RH45290;RH69411;SHGC-148767;SHGC-68433;SHGC-82303;STS-W72577 CSPG2;DKFZp686K06110;ERVR;GHAP;PG-M;WGN;WGN1 OTTHUMP00000161998;OTTHUMP00000222355;OTTHUMP00000222358;chondroitin sulfate proteoglycan 2;chondroitin sulfate proteoglycan 2 (versican);chondroitin sulfate proteoglycan core protein 2;glial hyaluronate-binding protein;large fibroblast proteoglycan;versican core protein;versican proteoglycan APPROVED protein-coding ENSG00000038427 HGNC:2464 00340 118661;143200 REVIEWED 1314724 VCPKMT valosin containing protein lysine (K) methyltransferase ENCODES a protein that exhibits protein-lysine N-methyltransferase activity; INVOLVED IN peptidyl-lysine trimethylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; bisphenol A; copper(2+) sulfate 14 14 14 q21.3 30442491 30450433 - 50572967 50583626 - 50106211 50116579 - 6480464;8554872 12477932;14702039;15489334;22948820;23349634 79609 Q9H867 ABBA01018131;AK023982;AK129564;AL109758;AMYH02029163;AMYH02029164;AX881055;BC027585;BC105118;BC143673;BC143674;BI753530;BI767189;BX247997;NM_001040662;NM_024558;NR_049738;NR_049739;XM_005268060;XM_005268061;XM_006720254;XR_429329 AAI05119;AAI43674;AAI43675;BAB14752;BAC85183;CAD62329;CAE91187;NP_001035752;NP_078834;Q9H867;XP_005268117;XP_005268118;XP_006720317 Hs.558541 1670986;1676630;1684359;2180665 D13S1686;RH65681;RH80099;SHGC-64140 C14orf138;FLJ13920;METTL21D;VCP-KMT OTTHUMP00000178974;VCP lysine methyltransferase;hypothetical protein LOC79609;methyltransferase like 21D;methyltransferase-like protein 21D;protein-lysine methyltransferase METTL21D;valosin-containing protein lysine methyltransferase APPROVED protein-coding ENSG00000100483 HGNC:20352 16605 615260 VALIDATED 1343537 VCX variable charge, X-linked This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 10 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008] X X X p22 11985704 11987525 + 7810303 7812184 + 7842262 7844143 + 1580863;6480464 10607842;10903929;12477932;12826317;12862317;17342728 26609 J3KNW2;Q9H320 ABBA01029288;AC005296;AF159129;AF167081;AMYH02038815;BC098123;BC126903;NM_013452 AAF28174;AAG41767;AAH98123;AAI26904;NP_038480;Q9H320 Hs.567503 1740627;5492783 DXS8175;UniSTS:482528 MGC118975;VCX-10r;VCX-B1;VCX1;VCX10R;VCXB1 OTTHUMP00000027889;variable charge X-linked protein 1;variable charge protein on X with ten repeats;variable charge, X chromosome;variably charged protein X-B1 APPROVED protein-coding ENSG00000182583 HGNC:12667 02206 300229 REVIEWED 1350692 VCX2 variable charge, X-linked 2 This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 2 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008] X X X p22.32 10678570 10679663 - 8137985 8139308 - 8169944 8171267 - 6480464 10607842;10903929;11337467;12477932;15489334 51480 Q4V780;Q9H322 ABBA01029330;AC097626;AF159127;AF167079;AI015625;AMYH02038818;AU099954;BC096715;BC098101;BC098113;BC098163;BC104153;BC104167;BC104168;BC134350;NM_016378 AAF28172;AAG41765;AAH96715;AAH98101;AAH98113;AAH98163;AAI04154;AAI04168;AAI04169;AAI34351;NP_057462;Q9H322 Hs.279737 5124944 RH93694 MGC118977;MGC125729;MGC125794;MGC125795;VCX-2r;VCX-B;VCX2R;VCXB OTTHUMP00000022871;variable charge X-linked protein 2;variable charge protein on X with two repeats;variably charged X-B;variably charged protein X-B APPROVED protein-coding ENSG00000177504 HGNC:18158 06749 300532 REVIEWED 1603458 VCX3B variable charge, X-linked 3B This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22, and the Y-linked members are two identical copies of the gene within a palindromic region on chromosome Yq11. The family members share a high degree of sequence identity, with the exception that a 30-nt unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This family member, as represented by the reference genome allele, contains 14 copies of the 30-nt repeat unit. VCX/Y genes encode small and highly charged proteins containing putative bipartite nuclear localization signals. Although the exact function of this family member has yet to be determined, a role in mRNA stability regulation can be inferred from the ability of the highly similar family member, VCX-A, to inhibit mRNA decapping. A possible role in the regulation of ribosome assembly during spermatogenesis has also been suggested. [provided by RefSeq, Aug 2010] X X X p22.31 12610915 12612595 + 8432871 8434551 + 8464830 8466510 + 6480464 10903929;12477932;12862317;15008409;15888481;16470742;17342728;18076704;19734545;19812318 425054 B5MDK9;E7EUP4;Q9H321 AA883225;AC006062;AF167080;AMYH02038819;BC098143;CH471074;NM_001001888 AAG41766;AAH98143;EAW98743;NP_001001888;Q9H321 Hs.279737;Hs.534814 MGC119815;VCX-C;VCXC OTTHUMP00000022872;variable charge X-linked protein 3B;variably charged protein X-C APPROVED protein-coding ENSG00000205642 HGNC:31838 15646 REVIEWED 1345952 VCY variable charge, Y-linked The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008] X Y Y q11.221 3154171 3154827 + 16097652 16098392 - 13985772 13986512 - 6480464 10607842;12477932;12815422;15489334;17342728;20301513;9381176;9847074 9084 O14598;Q4KN35 AC006370;AF000979;AI149997;BC096729;NG_032915;NM_004679 AAC51827;AAF03503;AAH96729;NP_004670;O14598 Hs.632284 1740629;2135083;5022971;5024888;5115908;5124944 DYS413;G34985;RH93694;sY1220;sY1282;sY1922 BPY1;MGC119817;VCY1;VCY1A;VCY1B OTTHUMP00000034580;OTTHUMP00000034581;basic charge, Y-linked 1;basic protein on Y chromosome, 1;testis-specific basic protein Y 1;testis-specific basic protein on Y, 1;variable charge, Y chromosome;variably charged protein Y APPROVED protein-coding ENSG00000129864 HGNC:12668 02453 400012 REVIEWED 1322560 VCL vinculin Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 10 10 10 q22.2 69043066 69165189 + 75757836 75879918 + 73998078 74120160 + 1580356;1580863;6480464;6484113;6907045;7240710;8554872;8699517 16236538 10085297;10224093;10320340;10320934;10330411;10521485;10545505;10882740;10908164;11113628;11358843;11409571;11541859;11577104;11693560;11724819;11741957;12473693;12477932;12665801;12719976;12765336;1339348;14597672;14627618;14630798;14702644;1505973;15070891;15163412;15164054;15229287;15231748;15489334;15494027;15501673;15547664;15728584;15883197;15988023;16097034;16130169;16169070;16189514;16385451;16407302;16608855;16712796;16803572;16826238;16949038;17081983;17082770;17088427;17591693;17709988;17932491;18028034;18056416;18341635;18353764;18513529;18554503;18781797;19052772;19056867;19148538;19422016;19738201;19883375;19913121;19952892;20086044;20301486;20360068;20474083;20502710;20628086;20634891;21076462;21139048;2116004;21171262;21319273;21486952;21525010;21763488;21841197;21890473;21906983;21963094;22017400;22053931;22235119;22309306;22391038;22493458;22586326;22613835;22623428;22709580;22797925;22863883;22939629;22940724;23000965;23077236;23159629;23383273;23389630;23466368;23627409;23679094;23687380;23704328;24219282;24337577;24452377;24466349;24654937;24698962;24751539;24816145;25027693;2503380;6457647;7525621;7534286;7566098;7682697;7816144;7994488;8276759;8440716;8609175;8610074;8612698;8922390;8994410;9054445;9405455;9415431;9535896;9700171;9858471;9885244 7414 B3KXA2;B4DTM7;P18206;Q5JQ13;V9HWK2 AA368699;ABBA01020295;ABBA01020296;ABBA01020297;AI290052;AK126978;AK296509;AK300280;AK304823;AL596247;AL700886;AL708715;AL731576;AL832130;AMYH02023343;AMYH02023344;BC013847;BC039174;BX537994;CH471083;EU794673;L04933;M33308;NG_008868;NM_003373;NM_014000;S87180;S87223;XM_005270142;XM_005270143 AAA61271;AAA61283;AAB21656;AAB21657;AAH39174;ABM85606;ACJ13727;BAG54414;BAG59141;BAG62039;BAG65571;CAD97952;EAW54547;EAW54548;EAW54549;EAW54550;EAW54551;NP_003364;NP_054706;P18206;XP_005270199;XP_005270200 Hs.643896 1649532;1655682;1704640;1742257;2114487;2166027;2190821 D10S2142;D10S2208;D10S2342;GDB:193875;SHGC-77943;STS-M33308;VCL CMD1W;CMH15;HEL114;MV;MVCL OTTHUMP00000019861;OTTHUMP00000019862;epididymis luminal protein 114;metavinculin APPROVED protein-coding ENSG00000035403 HGNC:12665 01900 193065;611407;613255 REVIEWED 1343029 VDAC1P1 voltage-dependent anion channel 1 pseudogene 1 INTERACTS WITH valproic acid X X X q21.1 80425069 80426846 + 80184923 80186706 + 80929424 80931207 + 6480464 10049775;10415331;7517385;8420959 642585 ABBA01049161;AF107839;AL359755;AMYH02039850;NG_001224 VDAC1P APPROVED pseudo HGNC:12671 INFERRED 730988 VCAM1 vascular cell adhesion molecule 1 This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010] 1 1 1 p32-p31 99446448 99465752 + 101185196 101204601 + 100719640 100739045 + 1580349;1580350;1580351;1580352;737738;2312764;2312766;2313108;2298843;2313112;2312761;2312760;2312763;2313107;2312762;2306988;2313109;2313110;2312765;2325163;2325162;6480464;6484113;6907045;7240523;7241033;7241034;7241036;7241211;7241215;7241232;7241234;7241235;7241237;7241238;7241032;7241202;7207796;7207803;7240511;7240515;7240517;7207802;7240508;4145364;7207783;7207785;7240507;7207792;8554872 11882338;12086338;12172318;12393616;12923961;15666579;17652277;17873024;17934115;18093596;18159007;18299691;18574676;18619052;18693542;18718174;18813897;18974656;18983856;19080338;19237221;19260948;19414982;19717975;19915157;19958991;20061033;20065945;20129688;20138682;20164827;20569722;20820841;21111939;21512820;21604443;22210567;22261574;22441309;22677566;22788914;23052973;23069071;23199547;23303408;23460853 10209034;10377075;10438935;10477700;10556825;10602408;10623819;10944555;11123288;11517385;11520773;11776680;11817523;11847011;11904449;11922919;11929779;11935152;11961404;11963839;11983205;12006387;12082081;12097820;12105209;12115600;12172576;12193695;12351381;12387879;12433638;12477932;12493764;12587980;12601490;12643440;12650924;12673844;12682249;12700137;12704784;12714597;12759453;12788528;1281211;12871600;12940514;12958610;12969778;1377228;1379595;1381355;14534081;14550782;14592496;14615367;14684616;14691297;14741380;14748068;14762656;14984317;15009098;15059493;15078922;15080580;15116247;15175347;15194470;15220135;15225366;15265790;15299708;15304054;15308572;15340161;15489334;15489374;15489375;15525877;15548573;15661077;15661918;15710215;15784173;15805138;15806475;15845907;15979542;16002075;16015337;16127297;16184405;16230423;16242117;16317091;16327982;16335952;16344560;16498082;16585601;16644735;16722038;16790997;16809613;16874958;16902065;16914554;16977262;16987074;1699207;17008592;17022986;1707234;1707873;17090406;17115186;17116732;17126824;1713772;17142773;1715583;1715889;17167725;17192354;17255534;17258924;17292586;17303384;17334226;17352405;17430469;17431880;17437524;17497038;17517105;17521609;17530710;17531998;17560459;17564956;17586618;17597073;17599409;17616653;17657162;17678915;17702963;17703412;17706337;17706953;17714716;17891599;17906965;17922685;17943642;17962718;17963163;17964973;17983593;18078450;18160848;18197885;18212564;18227515;18284603;18308860;18326231;18383329;18406566;18420209;18421029;18449421;18462748;18473733;18482273;18490752;18504269;18554449;18564921;18582564;18597403;18600396;18613029;18618671;18628303;18633131;18636124;18656701;18666029;18676680;18676870;18692491;18707907;18761738;18778820;18787016;18787184;18791689;18813849;18828734;18834676;18846968;18930765;18974842;19002703;19021457;19022587;19028820;19057841;19074885;19131662;19134480;19136619;19170196;19208843;19210349;19225544;19229069;19236760;19242838;19247692;19249917;19258923;19281832;19342863;19353432;19379571;19391499;19399399;19407977;19407978;19417018;19422386;19423540;19452728;19479237;19520742;19526283;19540498;19542447;19554506;19559392;19573080;19597294;19604093;19625176;19692168;19729601;19738201;19771922;19773279;19812370;19887846;19913121;19948975;20039412;20056178;20112284;20164172;20184510;20197690;20217071;20219985;20233927;20237496;20360250;20405289;20406964;20416077;20430730;20438785;20447702;20482449;20485444;20503287;20508517;20536507;20568250;20573493;20602615;20603037;20628086;20685094;20714774;20851866;20864106;20880684;20929696;20935502;20966071;21030716;21037509;21073443;21099224;21144825;21162967;21172429;21177856;21183871;21184654;21214384;21236267;21381877;21520070;21540635;21562063;21594636;21632263;21641584;21804483;21808112;21833088;21843619;21895545;21900123;22001052;22014578;22031842;22093255;22137570;22137794;22183741;22195873;22209080;22209338;22269951;22298164;22324942;22366735;22374129;22384064;22448134;22463742;22497223;22505707;22539325;22552687;22591361;22593994;22623428;22664325;22694757;22717098;22719189;22734001;22740338;22742445;22874466;22879387;22905988;22976263;23042271;23057424;23058024;23117931;23185512;23232649;23242661;23285079;23313051;23336423;23344094;23349048;23396735;23463506;23665024;23677452;23679262;23704882;23728723;23770055;23792525;23911532;23934855;23953534;24002113;24002898;24045955;24055812;24075742;24088748;24157824;24189753;24282904;24324686;24378362;24599548;24640675;2688898;7521694;7531291;7534402;7539925;7545397;7691867;7884872;8125298;8607877;8825878;8977311;9117345;9184636;9269771;9290466;9443894;9603478;9792375;9973426 7412 E9PDD2;P19320 ABBA01045435;AC093428;AF536818;AK223266;AK291732;AK296692;AL592446;AMYH02001561;AU121762;BC017276;BC068490;BC085003;BF791565;BF968655;CH471097;CR749464;DB096825;M30257;M60335;M73255;M92431;NG_023034;NM_001078;NM_001199834;NM_080682;S50587;X53051 AAA51917;AAA61269;AAA61270;AAH17276;AAH68490;AAH85003;AAM96190;ACE86744;ACE87430;BAD96986;BAF84421;BAG59286;CAA37218;CAH18296;EAW72949;EAW72950;NP_001069;NP_001186763;NP_542413;P19320 Hs.109225 1643806;1669761;1680609;1693194;1742159;1742943;1790465;1790467;1790469;1790471;1790473;1790475;1790477;1790479;1790483;1790485;1790487;1790489;1790491;1790493;1790495;1790497;1790499;1790501;1790503;1797030;2136486;2159068 AL009440;AL010034;AL034328;GDB:192501;GDB:216806;RH39988;SGV-R135;SGV-R136;SGV-R137;SGV-R144;SGV-R165;SGV-R169;SGV-R170;SGV-R171;SGV-R173;SGV-R178;SGV-R230;SGV-R231;SGV-R232;SGV-R233;SGV-R234;SGV-R235;SGV-R236;SGV-R239;SGV-R240;SHGC-12401;VCAM1_385;WI-18941 CD106;DKFZp779G2333;INCAM-100;MGC99561 CD106 antigen;OTTHUMP00000012650;OTTHUMP00000012651;OTTHUMP00000012652;OTTHUMP00000038305;vascular cell adhesion protein 1 APPROVED protein-coding ENSG00000162692 HGNC:12663 01888 192225 REVIEWED 2799525 VDAC1P11 voltage-dependent anion channel 1 pseudogene 11 9 9 9 67490337 67492419 - 97048814 97050837 - 94286532 94288555 - 100310841 ABBA01017674;ABBA01017675;AL691447;AMYH02021255;NG_013294 pseudo HGNC:37480 INFERRED 2793636 VDAC1P10 voltage-dependent anion channel 1 pseudogene 10 1 1 1 q41 188773571 188775362 + 215549841 215551581 + 215376498 215378238 + 643536 ABBA01048131;AL450990;AMYH02002675;NG_013293 pseudo HGNC:37479 INFERRED 1345932 VCX3A variable charge, X-linked 3A This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008] X X X p22 10678572 10679663 - 6451659 6453159 - 6533618 6535118 - 6480464 10607842;10903929;11076863;12477932;15489336;1549475;16381901;17157254;18076704;19812318 51481 E7ESE9;Q9NNX9 AC108684;AF159128;AF167078;AJ243947;AMYH02038808;BC039722;BC098149;BC104154;BC126902;CH471074;NG_011539;NM_016379;XM_006724494 AAF28173;AAG41764;AAH98149;AAI04155;AAI26903;CAB56197;CAL38296;EAW98750;NP_057463;Q9NNX9;XP_006724557 Hs.170076;Hs.278906 1653348;1703028;1740323;1740325;1740327;1740627;5492783 DXS1255;DXS7728;DXS7973;DXS7974;DXS7976;DXS8175;UniSTS:482528 MGC118976;MGC125730;MGC125796;VCX-8r;VCX-A;VCX3;VCX8R;VCXA OTTHUMP00000022866;variable charge X-linked protein 3;variable charge protein on X with eight repeats;variably charged X-A;variably charged protein X-A APPROVED protein-coding ENSG00000169059 HGNC:18159 18280 300533 REVIEWED 1346903 VCY1B variable charge, Y-linked 1B The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008] X Y Y q11.21 3086190 3086727 - 16168102 16168838 + 14056222 14056958 + 10607842;12477932;12815422;15489334;17207965;21832049;9381176;9847074 353513 O14598 ABBA01065462;AC018677;BC056508;NM_181880 AAH56508;ADQ32113;NP_870996;O14598 Hs.170076 1740629;2135083;5022971;5024888;5115908;5124944 DYS413;G34985;RH93694;sY1220;sY1282;sY1922 BPY1;BPY1B;VCY;VCY1 OTTHUMP00000034580;OTTHUMP00000034581;basic charge, Y-linked 1;basic protein on Y chromosome, 1;testis-specific basic protein Y 1;testis-specific basic protein on Y, 1;variably charged protein Y APPROVED protein-coding ENSG00000129862 HGNC:31751 18602 REVIEWED 1347327 VDAC1P2 voltage-dependent anion channel 1 pseudogene 2 X X X p11.2 53465767 53467531 - 49396238 49397962 - 49631635 49633359 - 10049775;7517385 10064 AC142496;AC142497;AC231643;AJ012218;AMYH02039349;NG_001223 VDAC1LP APPROVED pseudo HGNC:12670 INFERRED 3398736 VDAC1P3 voltage-dependent anion channel 1 pseudogene 3 INTERACTS WITH all-trans-retinoic acid; tamibarotene X X X 91736833 91738629 - 91236803 91238513 - 91981804 91983514 - 6480464 7517385;8420959 100310838 AC004478;AJ002428;AMYH02039952;NG_013287 2152259;2169405 DXS8365;DXYS221 pseudo HGNC:37478 INFERRED 6481121 VDAC1P12 voltage-dependent anion channel 1 pseudogene 12 13 13 34656914 34657447 - 34082777 34083310 - 100874289 ABBA01010164;AL160394;AMYH02027842;NG_032346 pseudo HGNC:39680 INFERRED 8656972 VDAC1P13 voltage-dependent anion channel 1 pseudogene 13 2 2 2 42530603 42531441 - 42690279 42691137 - 42463139 42463997 - 100420568 ABBA01075061;AC025750;AMYH02003675;NG_023558 pseudo HGNC:50515 INFERRED 1344182 VDAC1P5 voltage-dependent anion channel 1 pseudogene 5 12 12 12 q13.2 54847563 54849306 - 55195669 55197407 - 54801885 54803623 - 1580863 7517385 10187 Q36731 ABBA01008377;AC117496;AMYH02026539;NG_000882;S75494 AAD14175 VDAC3;VDAC5P APPROVED pseudo HGNC:12676 INFERRED 1349971 VDAC1P4 voltage-dependent anion channel 1 pseudogene 4 VDAC4 belongs to a family of small, abundant pore-forming proteins found in the outer mitochondrial membrane. These channels are thought to form the major pathway for movement of adenine nucleotides through the outer membrane and may also function as the mitochondrial binding site for hexokinase (see HK1; MIM 142600) and glycerol kinase (GK; MIM 300474) (Blachly-Dyson et al., 1994 [PubMed 7517385]).[supplied by OMIM, Mar 2008] 1 1 1 q24-q25 153510758 153512803 + 180403931 180405937 + 180434796 180436802 + 1580863 7517385 7418 ABBA01027794;AL445469;AMYH02002243;NG_007502;S75651 AAD14180 VDAC4;VDAC4P voltage-dependent anion channel 4 APPROVED pseudo HGNC:12675 610030 INFERRED 2923822 VDAC1P6 voltage-dependent anion channel 1 pseudogene 6 X Y Y p11.2 91736833 91738629 - 5074408 5076119 - 5206367 5208078 - 12815422;9847074 359800 ABBA01069894;AC010685;NG_002825;NG_011652 2152259;2169405 DXS8365;DXYS221 pseudo HGNC:37481 INFERRED 3398735 VDAC1P7 voltage-dependent anion channel 1 pseudogene 7 3 3 3 78106887 78108688 - 77365047 77366767 - 77315896 77317616 - 100310839 ABBA01031011;AC131005;AMYH02007103;NG_013290 pseudo HGNC:37482 INFERRED 3398734 VDAC1P8 voltage-dependent anion channel 1 pseudogene 8 6 6 6 144552023 144553758 + 143811645 143813334 + 143490508 143492197 + 100310840 ABBA01025747;AL031320;AMYH02014634;NG_013291 1796510 PEX3_1035 pseudo HGNC:37483 INFERRED 2802461 VDAC2P2 voltage-dependent anion channel 2 pseudogene 2 12 12 12 p13.31 10726237 10727474 + 9188920 9190119 + 9036324 9037523 + 10049775 643996 ABBA01012257;AC007436;AMYH02025997;NG_021271 pseudo HGNC:32693 INFERRED 1352139 VDAC2P1 voltage-dependent anion channel 2 pseudogene 1 21 21 21 q11.2 2636786 2638069 - 17466509 17467792 - 16094189 16095472 - 10049775;10830953 54015 ABBA01057095;AMYH02037536;AP001346;AP001666;NG_000899 VDAC2P APPROVED pseudo HGNC:12673 INFERRED 732557 VDAC1 voltage-dependent anion channel 1 This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across the outer mitochondrial membrane and may regulate mitochondrial functions. This protein also forms channels in the plasma membrane and may be involved in transmembrane electron transport. Alternate splicing results in multiple transcript variants. Multiple pseudogenes of this gene are found on chromosomes 1, 2 3, 6, 9, 12, X and Y.[provided by RefSeq, Sep 2010] 5 5 5 q31 129431292 129464120 - 133307566 133341300 - 133971875 134005389 - 1580863;6480464;6907045;7240710 10049775;10365962;10501981;10620603;10639121;10661876;10737788;10772903;10922061;10978502;11039896;11091140;11181702;11602586;11845315;12009301;12079506;12087096;12118373;12243190;12477932;12663490;12698369;12736244;12767928;1373486;14573604;14647451;14702039;15033708;15047060;15302935;15372022;15489334;15592455;15630200;15635413;15637055;15644312;15952740;1602151;16185087;16196087;16201016;16236267;16344560;16565220;1657034;16585511;17081983;17209561;17254575;17336328;17353931;17500595;17828567;18063578;18250166;18308720;18362892;18381814;18568384;18607100;18614564;18690523;18755977;18832158;19049977;19056867;19094960;19595769;19668262;19669810;19717555;19738201;19847302;20098416;20117113;20132430;20186120;20192921;20230784;20237496;20347420;20360068;20404552;20434446;20435015;20846459;20877624;20890124;20937774;21081666;21139048;21148773;21281574;21281575;21319273;21442216;21720385;21890473;21900206;21906983;21963094;21987572;22117062;22159995;22164227;22190034;22304920;22315232;22325275;22389449;22397371;22435461;22505724;22586326;22589539;22616995;22841291;22926141;22939629;22990118;23000965;23060438;23068103;23161549;23182705;23254330;23503661;23555273;23824909;23874603;24063855;24211404;24272356;24324700;24337577;24561123;24583282;24654937;24668813;24704533;24816145;24960163;25015289;2559745;7517385;7525559;7539795;7685903;8420959;9119086;9644232;9843949;9874241 7416 B3KTS5;C9JI87;P21796 ABBA01068770;AC005200;AC008608;AC025177;AF151097;AJ250032;AK095989;AK122953;AK293639;AMYH02012236;BC008482;BC071168;BC090042;CH471062;DA072915;DB475162;KC877121;L06132;NG_027817;NM_003374;NR_036624;NR_036625;XM_005272075 AAA61272;AAC24723;AAD54939;AAH08482;AAH71168;AAH90042;ABM84109;ABM87491;BAG53187;BAG53816;BAG57094;CAB58127;EAW62281;EAW62282;EAW62283;EAW62284;EAW62285;EAW62286;NP_003365;P21796;XP_005272132 Hs.519320 1335938;1658291;1848339;2121794;5019268;5020453;5124905 D17S2116;D5S1995;D5S2665;D8S1135;DXS1261;RH38718;WI-7287 MGC111064;VDAC-1;hVDAC1 OTTHUMP00000159381;OTTHUMP00000165946;OTTHUMP00000165947;outer mitochondrial membrane protein porin 1;plasmalemmal porin;porin;porin 31HL;porin 31HM;porin-31-HL;voltage-dependent anion-selective channel protein 1 APPROVED protein-coding ENSG00000213585 HGNC:12669 05137 604492 REVIEWED 731822 VDAC2 voltage-dependent anion channel 2 This gene encodes a member of the voltage-dependent anion channel pore-forming family of proteins that are considered the main pathway for metabolite diffusion across the mitochondrial outer membrane. The encoded protein is also thought to be involved in the mitochondrial apoptotic pathway via regulation of BCL2-antagonist/killer 1 protein activity. Pseudogenes have been identified on chromosomes 1, 2, 12 and 21, and alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 10 10 10 q22 70258168 70279465 + 76969912 76991206 + 75210154 75231448 + 1580863;6480464;6907045 10049775;10501981;11197169;12477932;12881569;14739283;15047060;15082785;15164054;15489334;15635413;15757910;15952740;16196087;16344560;16385451;17081983;17254575;17342744;17353931;17500595;17553172;17828567;18029348;18063578;18278581;18614564;18781797;19013129;19725029;19738201;19953087;20138821;20562859;20809416;20877624;21081666;21139048;21241999;21319273;21347391;21832049;21890473;21906983;21963094;21987572;22114330;22119777;22190034;22268729;22304920;22505724;22623428;22842492;22939629;22990118;23000965;23060438;23068103;23455922;23503661;23798571;23873934;23874603;24250222;24561123;24583282;7517385;7539795;7685033;8420959;8889548;9615439 7417 A2A3S1;B4DKM5;P45880;Q5JSD1;Q5JSD2 ABBA01020260;ABBA01020261;AF152227;AK296635;AK315919;AL390034;AL392111;AMYH02023363;BC000165;BC012883;BC072407;BE545584;BU171142;CF122447;CH471083;CR456964;DA608755;L06328;L08666;NM_001184783;NM_001184823;NM_003375;NR_033675;XM_006717961 AAA60144;AAA60145;AAB59457;AAD40241;AAH00165;AAH12883;AAH72407;ABM81860;ABM85023;BAG59237;BAH14290;CAG33245;EAW54569;EAW54570;EAW54571;EAW54572;EAW54573;EAW54574;NP_001171712;NP_001171752;NP_003366;P45880;XP_006718024 Hs.355927 1656105;1680491;1680695;1754185;5094072 D10S2411;G34956;RH67025;RH80786;SHGC-132209 FLJ23841;POR OTTHUMP00000019876;OTTHUMP00000019877;OTTHUMP00000019878;OTTHUMP00000019879;OTTHUMP00000019880;outer mitochondrial membrane protein porin 2;voltage-dependent anion-selective channel protein 2 APPROVED protein-coding ENSG00000165637 HGNC:12672 01904 193245 REVIEWED 733844 VDAC3 voltage-dependent anion channel 3 This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 8 8 8 p11.2 41194068 41208137 + 42249279 42263455 + 42391624 42405937 + 1298632;1580863;6480464;6907045;8554872 9653160 10501981;10833333;11042152;11076863;11507092;12477932;14739283;15047060;15489334;15489336;15592455;16169070;16196087;16344560;16381901;17207965;17254575;17353931;17500595;17683036;18029348;18781797;19056867;20138821;20186120;20360068;20434446;20877624;21139048;21890473;21906983;21963094;21987572;22190034;22268729;22304920;22505724;22935710;22939629;23000965;23060438;23068103;23388454;23503661;24250222;24457600;24654937;9228078;9781040;9804816 7419 E5RFL1;E5RFP6;E5RHE1;E5RHZ6;E5RJN6;E5RK27;Q9Y277 ABBA01021155;AC107885;AF038962;AK058201;AK307224;AK308760;AMYH02017896;BC056870;BQ001504;BX643099;CH471080;DA930673;DB484671;NM_001135694;NM_005662;U90943;XM_006716394 AAB93872;AAC39876;AAH56870;ADQ32542;CAL38200;CAL38446;EAW63217;EAW63218;EAW63219;NP_001129166;NP_005653;Q9Y277;XP_006716457 Hs.699301 1679139;1680839;5491866 RH40477;RH79876;VDAC3 HD-VDAC3;VDAC-3;hVDAC3 OTTHUMP00000226057;OTTHUMP00000226059;OTTHUMP00000226060;mitochondrial voltage dependent anion channel 3;outer mitochondrial membrane protein porin 3;voltage-dependent anion-selective channel protein 3 APPROVED protein-coding ENSG00000078668 HGNC:12674 06750 610029 REVIEWED 1347941 VDI vesicular stomatitis virus defective interfering particle suppression 6275129 7420 HGNC:12678 125260 2794720 VDAC1P9 voltage-dependent anion channel 1 pseudogene 9 1 1 1 q23.1 130765171 130765997 - 157693990 157694816 - 157724200 157725026 - 391106 ABBA01016637;AL356276;AMYH02001997;NG_013292 pseudo HGNC:37484 INFERRED 731621 VCP valosin containing protein The protein encoded by this gene is a member of a family that includes putative ATP-binding proteins involved in vesicle transport and fusion, 26S proteasome function, and assembly of peroxisomes. This protein, as a structural protein, is associated with clathrin, and heat-shock protein Hsc70, to form a complex. It has been implicated in a number of cellular events that are regulated during mitosis, including homotypic membrane fusion, spindle pole body function, and ubiquitin-dependent protein degradation. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 34988041 35004706 - 35056065 35072739 - 35056068 35072742 - 1599735;1580863;6480464;6907045;7240710;7364778;7364791;8554872;8699517;8661237;8661242 15034582;21884200;22906475;24002223;24326623 10350210;10364224;10855792;10930447;10931946;11087817;11252708;11483959;11689694;11913976;11927012;12351637;12473691;12477932;12504083;12509440;12529442;12560433;12663780;12665801;12807884;12810701;12937274;12938929;12944474;14532270;14749733;14760088;15037256;15189447;15215856;15331598;15362974;15371428;15452376;15456787;15588985;15592455;15723043;15732117;15743842;15752563;15852347;15883021;15932873;15952740;16009940;1602151;16027165;16051665;16130169;16140914;16159877;16168377;16186509;16186510;16196087;16212419;16234241;16236267;16247064;16275660;16289116;16306228;16335966;16344560;16386250;16449189;16461343;16513638;16525503;16551632;16621797;16723740;16783167;16807242;16822850;16901789;16914519;16954204;16966435;16968747;16987818;17110338;17141156;17200190;17203973;17220478;17272822;17311810;17314412;17346713;17353931;17368566;17457594;17493577;17525332;17550899;17618707;17620599;17622780;17626287;17681147;17683050;17763460;17872946;17889967;17907600;17935506;18022694;18029348;18044963;18048502;18160415;18166610;18199748;18216283;18279508;18341608;18400946;18544453;18550891;18586029;18654987;18656546;18675248;18706391;18711132;18775313;18781797;18811591;18835813;19056867;19164805;19174149;19175675;19193609;19208399;19237541;19240031;19275885;19286132;19356220;19364651;19471022;19506019;19596686;19615732;19704082;19730691;19738201;19815544;19815549;19818707;19822669;19826004;19828134;19828315;19843543;19887378;19913121;20008565;20020773;20057067;20085233;20097236;20100830;20104022;20116073;20126661;20301623;20301649;20335036;20360068;20395553;20410307;20414249;20427671;20435896;20442859;20508983;20512113;20628086;20639865;20702414;20876349;20935584;20938780;21081666;21118995;21135095;21139048;21145000;21145461;21152665;21173115;21186355;21249466;21282470;21319273;21320982;21343306;21387114;21501964;21556036;21636303;21645854;21684747;21693764;21733848;21741246;21781992;21811234;21822278;21832065;21853274;21857022;21890473;21896481;21900206;21906983;21909096;21909394;21914798;21918864;21920633;21949850;21959292;21963094;21981919;21983102;21984748;21987572;21988832;22040362;22053931;22078486;22090097;22102026;22105171;22108332;22118674;22120668;22137929;22190034;22196955;22207755;22210628;22216170;22270372;22298039;22321369;22328510;22337587;22349865;22350894;22355145;22360420;22379090;22466964;22505724;22536440;22572540;22579784;22586326;22623428;22686199;22699758;22789697;22795130;22797925;22863883;22870330;22900631;22902628;22939629;22948820;22970133;23000505;23000965;23042605;23042607;23077236;23097496;23102936;23108140;23140793;23152587;23184937;23190606;23246001;23250913;23293021;23297223;23333620;23335559;23349634;23383273;23393163;23402259;23412975;23438482;23443559;23457492;23498974;23498975;23500464;23503661;23533167;23618873;23652004;23665563;23722536;23747512;23782134;23791177;23798571;23844095;23862649;23867461;23907667;23964080;24019527;24025715;24085347;24089527;24100225;24129571;24147044;24152492;24160817;24163436;24196352;24196964;24215292;24248593;24417208;24429874;24457600;24583282;24598262;24610782;24654937;24722188;24726323;24726327;24811749;24816145;24820123;24855649;24885147;25015289;25027693;25084388;7553851;8413590;8595912;9286697;9321476;9452483;9506515 7415 C9IZA5;C9JUP7;P55072;Q96IF9;V9HW80 ABBA01064998;AC004472;AF100752;AF313485;AF313486;AI343015;AK307735;AK312310;AL137377;AL353795;AMYH02019455;BC007562;BC012195;BC017171;BC096751;BC110913;BC121794;BC122550;CH471071;CQ871270;DA880782;DB524539;FJ224344;FJ224352;NG_007887;NM_007126;Z70768 AAC07984;AAD43016;AAG29873;AAG29874;AAH07562;AAI10914;AAI21795;AAI22551;ACI46036;ACI46044;BAG35235;CAA94809;CAB70717;CAH56816;EAW58403;EAW58404;NP_009057;P55072 Hs.529782 1340568;1644177;1698294;2115396;2124063;2128583;2180020;2217316 A002I21;D9S1791;FANCG_2802;RH102684;RH11835;RH15902;STS-R69121;WI-13566 ALS14;HEL-220;HEL-S-70;IBMPFD;IBMPFD1;MGC131997;MGC148092;MGC8560;TERA;p97 15S Mg(2+)-ATPase p97 subunit;OTTHUMP00000021326;TER ATPase;epididymis luminal protein 220;epididymis secretory protein Li 70;transitional endoplasmic reticulum ATPase;valosin-containing protein;yeast Cdc48p homolog APPROVED protein-coding ENSG00000165280 HGNC:12666 03013 167320;601023;613954 REVIEWED 1602836 VENTXP1 VENT homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] X X X p21.3 30703901 30706616 + 26576454 26579169 + 26558337 26561052 + 10790436;11549314;23319000 139538 P0C5K6 ABBA01072545;ABBA01072546;AC079178;AF164963;AMYH02039067;NR_001559 P0C5K6 Hs.447377 CT18;NA88A;VENTX2P1 APPROVED pseudo ENSG00000259849 HGNC:30900 VALIDATED 1343221 VEGFB vascular endothelial growth factor B This gene encodes a member of the PDGF (platelet-derived growth factor)/VEGF (vascular endothelial growth factor) family. The VEGF family members regulate the formation of blood vessels and are involved in endothelial cell physiology. This member is a ligand for VEGFR-1 (vascular endothelial growth factor receptor 1) and NRP-1 (neuropilin-1). Studies in mice showed that this gene was co-expressed with nuclear-encoded mitochondrial genes and the encoded protein specifically controlled endothelial uptake of fatty acids. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Sep 2011] 11 11 11 q13 61312403 61333143 + 64002056 64006736 + 64234584 64239264 + 1625708;1580574;1580863;2298727;2314323;2313725;2314324;5490120;6480464;6907045;8554872 12230324;12547729;16633338;16816123;17975666;19369214;21487926 10409677;11122379;12366396;12477932;12652295;12881472;15009103;15489334;16109918;16570043;16616187;16839256;17082651;18259607;18317782;18511699;18537151;18564921;18757827;18930733;19275959;19424629;19483306;19910455;19913121;19948975;20223440;20228789;20308035;20452482;20501651;20628086;20673868;21636803;22172722;22872519;23301033;23350126;23417498;23444216;23553333;23697367;23728940;24374930;24561123;24987005;25001655;8637916;8702615;8889548;8919691;9365524;9684805;9751730 7423 H0YGB6;P49765;Q7LAP4 ABBA01003291;AF468110;AMYH02024932;AP001453;BC008818;BG031449;BM694361;BU730521;CH471076;CS067228;CS367408;EU332866;JX512460;NG_029823;NM_001243733;NM_003377;U43368;U43369;U43370;U48801;U52819 AAA91462;AAA91463;AAA91464;AAB06274;AAC50721;AAH08818;AAL79000;AAL79001;ABM83559;ABM86796;ABM86798;ABY87555;AGC09607;CAI84577;CAL33849;EAW74221;EAW74222;EAW74223;NP_001230662;NP_003368;P49765 Hs.732095 1681255;1683890;1706624;1798308;2125627;2138103;2153127;2185863 G33073;RH27714;RH41986;RH79811;SHGC-82715;VEGFB_2536;WI-14122;WI-16915 VEGF-B;VEGFL;VRF OTTHUMP00000236927;OTTHUMP00000236928;VEGF-related factor APPROVED protein-coding HGNC:12681 03237 601398 REVIEWED 1354153 VENTX VENT homeobox This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128461096 128465122 - 135051408 135055433 + 133237904 133241930 + 1580863;6480464 10790436;11549314;12107410;12477932;15146197;17963489;20028861;20211142;20833819;21325273;21670496;22791709 27287 O95231 ABBA01006207;AF068006;AF288039;AL445199;AL592071;AMYH02024087;AMYH02024088;BC108915;BC108916;BX089390;CA390754;CH471211;CN305392;NM_014468 AAC82375;AAI08916;AAI08917;AAK83043;ABZ92230;EAW61323;NP_055283;O95231 Hs.125231 1798310;5022578 D1S1423;VENTX2_2047 HPX42B;MGC119910;MGC119911;NA88A;VENTX2 OTTHUMP00000020791;VENT homeobox homolog;VENT-like homeobox 2;VENT-like homeobox protein 2;hemopoietic progenitor homeobox protein VENTX2;homeobox protein VENTX APPROVED protein-coding ENSG00000151650 HGNC:13639 06197 607158 REVIEWED 1344230 VDAC3P1 voltage-dependent anion channel 3 pseudogene 1 14 14 14 q32.2 80485722 80486568 + 100430866 100431712 + 99964529 99965375 + 338454;341965 ABBA01048544;AL133368;AMYH02029846;NG_022864 VDAC3P APPROVED pseudo HGNC:20722 INFERRED 1604697 VENTXP2 VENT homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the VENT homeobox gene family [provided by RefSeq, Mar 2013] 13 13 13 q31.1 65379015 65379550 - 84481439 84481974 - 83907304 83907839 - 17963489 100287345 ABBA01021740;AL355481;AMYH02028386;NG_021962 VENTX2P2 APPROVED pseudo HGNC:30901 INFERRED 1606955 VENTXP4 VENT homeobox pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] 3 3 3 p24.2 26324453 26325915 - 26387754 26389216 - 26346263 26347725 - 17963489 152101 ABBA01025008;AC098615;AMYH02006429;NG_002906 VENTX2P4 APPROVED pseudo HGNC:30903 INFERRED 1606061 VENTXP5 VENT homeobox pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] 8 8 8 p12 32528503 32530411 - 33578698 33580606 - 33721194 33723089 - 17963489;22542470 442384 ABBA01023601;AC015779;AMYH02017771;NG_005091 5022000 D8Ulb3 APPROVED pseudo HGNC:32214 INFERRED 1606058 VENTXP6 VENT homeobox pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] 8 8 8 q21.11 70560804 70562160 + 74563245 74564176 + 73651010 73651941 + 552879 ABBA01041969;AC027018;AC100784;AMYH02018216;NG_005090 APPROVED pseudo HGNC:32216 INFERRED 1352191 VENTXP7 VENT homeobox pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] 3 3 3 p24.3 21389130 21390112 + 21447218 21448200 + 21405726 21406708 + 11549314;24324551;7518789 391518 Q14560 ABBA01025062;AC104183;AMYH02006382;NR_002311;X74864 CAA52857 Hs.543226 HPX42;VENTX1 APPROVED pseudo HGNC:13638 PROVISIONAL 1626256 VEZF1P1 vascular endothelial zinc finger 1 pseudogene 1 3 3 3 q29 191296686 191300446 - 192871326 192875088 - 193153537 193157299 - 647319 ABBA01058292;AC092966;AMYH02008436;NG_006550 1682441;1784878;2131103;5015999 RH39292;SHGC-31081;Vezf1;WI-19455 VEZF1L1;ZNF161L1 APPROVED pseudo HGNC:32320 INFERRED 1606649 VENTXP3 VENT homeobox pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] 12 12 12 q21.1 74352920 74354939 + 74686093 74688112 + 74292313 74294332 + 17963489 349814 ABBA01026481;AC128678;AMYH02026760;NG_002911 VENTX2P3 APPROVED pseudo HGNC:30902 INFERRED 1353776 VEPH1 ventricular zone expressed PH domain-containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; arsane 3 3 3 q24-q25 155401211 155645090 - 156977531 157221415 - 157259742 157503626 - 6480464;8554872 11214970;11329013;12477932;14702039;15388229;15761153;16344560;19913121;20237496;20379614;20628086;21441570 79674 C9IZY4;C9J379;C9J4U8;C9JRT0;F8WBD3;F8WBQ3;Q14D04 AB051479;ABBA01058829;ABBA01058830;ABBA01058831;AC020630;AC092944;AK022666;AK027625;AL713656;AMYH02007981;AMYH02007982;AMYH02007983;AX713110;BC026235;BC042159;BC057999;BC078142;BC101660;BC111017;BC113555;BG194590;CH471052;DA887051;NM_001167911;NM_001167912;NM_001167915;NM_001167916;NM_001167917;NM_024621;XM_005247767;XM_005247768 AAH42159;AAH57999;AAI01661;AAI11018;AAI13556;ADR83278;BAB14165;BAB21783;BAB55243;CAD28465;CAD88637;EAW78705;EAW78706;EAW78707;NP_001161383;NP_001161384;NP_001161387;NP_001161388;NP_001161389;NP_078897;Q14D04;XP_005247824;XP_005247825 Hs.658046 1647734;1648702;1662040;1679193;1701146;1743093;1749099;1749387;1798060;2164179;2184729 G16597;GDB:252088;PTX3_470;RH104201;RH36147;RH98708;SHGC-110753;SHGC-111134;SHGC-77484;SHGC-77488;WI-7070 FLJ12604;KIAA1692;MELT;MGC111426;MGC126709;MGC142115;VEPH OTTHUMP00000213308;OTTHUMP00000213309;OTTHUMP00000213310;OTTHUMP00000213311;OTTHUMP00000213312;OTTHUMP00000213317;protein melted;ventricular zone expressed PH domain homolog 1;ventricular zone-expressed PH domain-containing protein homolog 1 APPROVED protein-coding ENSG00000197415 HGNC:25735 07782 609594 VALIDATED 1602106 VEZT vezatin, adherens junctions transmembrane protein This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a target sequence in the 3' UTR of the transcripts. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] 12 12 12 q22 95282459 95367461 + 95611522 95696566 + 95217746 95302790 + 6480464;8554872 11080149;12126233;12477932;14702039;16199027;16344560;19322201;21139048;21156161;21906983;21963094;23104006;23472165;24069310;24816145;8125298 55591 F2Z3A6;F8VPN9;F8VRY3;F8VS43;F8VUB7;F8VUG0;F8VVS3;F8VXA0;F8W048;F8W088;F8W0S0;F8W8C2;Q9HBM0 ABBA01053339;ABBA01053340;AC084879;AC127165;AF216644;AF225417;AF277625;AK001338;AK225303;AK225356;AK307649;AK307864;AK309943;AL133113;AL137497;AMYH02026970;AMYH02026971;AMYH02026972;BC014443;BC028597;BC040845;BC064939;BI835735;BQ023048;CH471054;DB136255;KF455699;NG_028987;NM_017599;NR_038241;NR_038242;XM_006719477;XM_006719478;XM_006719479;XM_006719480;XM_006719481;XM_006719482;XM_006719483;XM_006719484;XM_006719485;XM_006719486;XM_006719487;XM_006719488;XM_006719489;XM_006719490 AAG09719;AAG38485;AAG38514;AAH64939;BAA91634;CAB61416;CAB70772;EAW97524;EAW97525;EAW97526;EAW97527;EAW97528;EAW97529;EAW97530;EAW97531;EAW97532;EAW97533;EAW97534;EAW97535;EAW97536;NP_060069;Q9HBM0;XP_006719540;XP_006719541;XP_006719542;XP_006719543;XP_006719544;XP_006719545;XP_006719546;XP_006719547;XP_006719548;XP_006719549;XP_006719550;XP_006719551;XP_006719552;XP_006719553 Hs.24135 1666417;1685674;1686414;1694650;1699036;1736288;1739811;1782520;2168771;5014063;5015861;5020948;5022200;5022651;5037552;5093174;7185938 A009I16;D10S16;D11S2921;D12S1238E;D12S1528E;D15S1390;D8S2279;G32563;G35510;G43502;L18426;RH103091;RH26488;RH65117;SHGC-104013;STS-AA001856 DKFZp761C241 OTTHUMP00000243135;OTTHUMP00000243143;transmembrane protein vezatin;vezatin APPROVED protein-coding ENSG00000028203 HGNC:18258 11671 REVIEWED 1352400 VGLL1 vestigial-like family member 1 The protein encoded by this gene binds proteins of the TEA domain family of transcription factors (TEFs) through the Vg (vestigial) homology region found in its N-terminus. It may thus function as a specific coactivator for the mammalian TEFs. [provided by RefSeq, Sep 2009] X X X q26.3 135977966 136002613 + 135614311 135638966 + 136532152 136556807 + 1580863;6480464 10518497;12477932;15489334;15772651;24891455 51442 H0Y5G3;Q5H916;Q99990 ABBA01055918;ABBA01055919;ABBA01055920;ABBA01055921;ABBA01055922;AC000115;AF137387;AI207291;AK309912;AMYH02040579;BC000045;BC003362;CH471150;KF459427;NG_013270;NM_016267;Z97632 AAB46354;AAB46355;AAF13149;AAH00045;AAH03362;ABM81854;ABW03331;EAW88466;EAW88467;NP_057351;Q99990 Hs.496843 1683253;2115373;2218138 DXS9757;RH91434;VGLL1_2777 TDU;VGL1;vgl-1 OTTHUMP00000024123;OTTHUMP00000024124;OTTHUMP00000024125;TONDU;WUGSC:H_GS188P18.1b;transcription cofactor vestigial-like protein 1;vestigial like 1 APPROVED protein-coding ENSG00000102243 HGNC:20985 06751 300583 REVIEWED 1317608 VEZF1 vascular endothelial zinc finger 1 Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM, Sep 2008] 17 17 17 q22 52510684 52527395 - 56048908 56065615 - 57971547 57988254 - 1580863;6480464 11504723;16335786;18029348;19322201;21890473;22308494;8035792;9865462 7716 J3QLN5;J3QSH4;J9JIC7;Q14119 AA195154;ABBA01041323;AC015813;AK058024;AMYH02033681;BG718897;BX648862;CH471109;D28118;NM_007146;XM_005257643;XM_005257644 AAI52727;BAA05663;EAW94494;EAW94495;EAW94496;EAW94497;NP_009077;Q14119;XP_005257700;XP_005257701 Hs.463569 1679413;1682441;1739151;1784878;2127085;2142684;2178219;2181429;5015999 A002Q40;D17S1375E;D17S1627;D17S1665;RH11817;RH39292;RH47497;SHGC-31081;Vezf1 DB1;ZNF161 putative transcription factor DB1;zinc finger protein 161 APPROVED protein-coding HGNC:12949 08416 606747 VALIDATED 1323604 VGLL2 vestigial-like family member 2 This gene encodes a protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012] 6 6 6 q22.1 118329639 118337646 + 117586721 117594728 + 117265558 117273565 + 6480464 12376544;12477932;14516696;14702039;14762206;17207965;20881960;22218741 245806 Q8N8G2 ABBA01026042;AJ578053;AK096878;AMYH02014360;AY056583;BC069316;BC100798;BC100799;BC118545;BC118622;CH471051;NM_153453;NM_182645;XM_005266883;XM_005266884;Z98880 AAH69316;AAI00799;AAI00800;AAI18546;AAI18623;AAI56483;AAI72539;AAL17720;ADQ32953;BAC04881;CAE17331;EAW48210;EAW48211;NP_703154;NP_872586;Q8N8G2;XP_005266940;XP_005266941 Hs.99324 1666697;1678609;1798312 G10032;RH92909;VGLL2_2092 VGL2;VITO1;vgl-2 OTTHUMP00000017081;OTTHUMP00000017082;Vestigial and Tondu related protein 1;transcription cofactor vestigial-like 2;transcription cofactor vestigial-like protein 2;vestigial like 2;vestigial-like 2 APPROVED protein-coding ENSG00000170162 HGNC:20232 18282 609979 REVIEWED 69439 VGF VGF nerve growth factor inducible This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 95814146 95817208 - 100805790 100810862 - 101162509 101167581 - 1580863;6480464 10381005;12477932;15706611;16481598;17440014;17684500;18432310;19598235;20164831;20471433;20631166;21151573;21621608;22808091;24086249;24244333;24250222;24457600;8125298;9084409;9344675 7425 O15240;Q05BJ3 ABBA01011348;ABBA01011349;AC004876;AK225839;AMYH02016400;BC006217;BC036537;BC044212;BC063835;CH471197;HI573992;NM_003378;XM_005250560;XM_005250561;Y09938;Y12661 AAD45830;AAH44212;AAH63835;CAA73210;CBX47485;EAW50201;NP_003369;O15240;XP_005250617;XP_005250618 Hs.587325 OTTHUMP00000211481;OTTHUMP00000211482;neuro-endocrine specific protein VGF;neurosecretory protein VGF APPROVED protein-coding ENSG00000128564 HGNC:12684 03717 602186 REVIEWED 1602804 VGLL3 vestigial-like family member 3 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; aflatoxin B1 3 3 3 p12.1 87739047 87793404 - 86987123 87040412 - 86937973 86991260 - 6480464;8554872 11819507;12376544;12477932;14702039;15146197;19336002;20842732;21102462;22219177;23152581;23251661;23415753;23449627 389136 A8MV65;H7C571 AA455617;ABBA01004627;AC108709;AF099505;AI379920;AK095826;AMYH02007206;AMYH02007207;BC017383;BC062478;BC094780;BX369995;BX391744;CF995043;CH471110;CN287582;CR936700;HH756203;HH756215;HH792471;HH792483;NM_016206;XM_005264752;XM_005264753;XM_006713138;XM_006713139 A8MV65;AAF00091;AAH94780;CBX78569;CBX78571;CBX87123;CBX87124;EAW68870;EAW68871;NP_057290;XP_005264809;XP_005264810;XP_006713201;XP_006713202 Hs.606507;Hs.744116 1669004;1695382;1698306;2121027;2121029;2137296;2169357;2169697;2173375;2173377;2179507;2181831;5493593 A004P25;A005R17;A006B39;D15S1269;G20437;G20685;RH102693;RH45063;RH69879;SHGC-68425;SHGC-77128;SHGC-77133;UniSTS:487342 DKFZp686O1845;FLJ38507;VGL-3;VGL3 OTTHUMP00000213809;OTTHUMP00000213810;colon carcinoma related protein;transcription cofactor vestigial-like protein 3;vestigial like 3;vestigial-like 3 APPROVED protein-coding ENSG00000206538 HGNC:24327 13431 609980 VALIDATED 732214 VEGFC vascular endothelial growth factor C The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014] 4 4 4 q34.3 174932577 175041751 - 177604689 177713899 - 176683538 176792745 - 1580863;1334463;2298727;2315469;2315471;2315477;2315474;2315475;2315476;2315481;2315482;2315484;2315470;2315487;2315488;6480464;6484113;6907045;7483588;7488946;8548457;7483611;8699517;8554872 12203051;15289890;15563310;16633338;17034609;17094484;17257131;18424890;18704465;19382240;19500329;19589137;19608016;19885590;19911196;19923084;22206010;22801834 11332691;11877295;11920583;11999550;12168824;12213723;12388793;12452004;12469214;12471041;12477932;12594815;12792749;12810700;12819011;12915657;12963694;14534690;14558949;14568550;14634646;14676121;14744769;14760756;14966375;15009103;15040017;15151619;15173661;15240540;15272284;15340161;15484296;15489334;15590642;15623620;15668894;15756450;15870511;15880525;15943035;16044920;16049374;16116610;16299237;16322297;16344560;16375119;16465426;16467091;16474989;16525158;16525637;16525666;16530705;16570043;16584091;16755294;16816121;16874878;16879394;16924525;16944571;16964283;17203176;17216674;17222375;17230534;17353919;17393109;17409493;17465468;17536453;17640671;17641542;17676294;17686546;17926187;17931169;17935478;17970036;18006056;18035072;18057235;18061373;18190720;18192971;18205092;18245556;18250037;18261985;18292935;18295452;18307927;18399170;18440723;18476628;18509004;18512120;18538739;18561194;18564921;18609713;18614759;18627789;18630523;18652765;18679715;18717190;18773737;18798279;18826121;18924431;18953835;18974119;18983460;19002718;19024518;19041000;19066962;19084972;19099632;19107364;19117016;19141404;19151999;19152186;19275959;19276682;19280060;19291182;19299706;19302703;19304526;19347719;19347725;19351758;19412173;19420963;19462898;19629892;19648590;19671876;19701853;19717640;19771906;19779139;19781195;19813623;19821158;19825968;19828679;19910455;19913121;19934313;19956642;20021832;20107934;20119692;20120873;20137690;20145116;20179201;20215856;20223440;20237496;20336393;20379614;20429385;20429915;20448355;20450586;20452482;20522712;20584281;20608938;20628086;20628624;20651394;20654122;20672317;20673868;20723431;20734221;20819530;20825419;20827282;20864667;20878580;21069476;21159248;21199729;21264536;21269982;21279519;21302621;21330458;21374591;21411409;21448429;21482472;21520987;21600223;21666710;21676077;21680174;21698469;21732038;21767323;21804602;21821075;21839498;21910784;21947598;21972089;21986134;21999474;22008106;22023263;22049531;22057733;22082308;22174851;22179834;22199311;22292658;22326635;22335030;22336204;22366442;22466647;22496919;22502683;22537619;22552325;22574929;22607367;22626857;22649204;22696643;22804631;22817694;22833169;22906075;22938476;22965194;22967508;23054001;23059773;23059885;23065569;23111735;23125006;23137522;23147541;23149913;23158987;23225420;23242251;23242981;23301033;23317352;23327061;23334337;23336661;23350126;23383322;23410910;23424645;23536282;23574654;23585340;23593187;23593282;23651239;23737988;23809761;23866030;23870768;23878260;23879170;23963849;23990681;24023336;24078449;24101199;24146275;24173916;24184161;24222146;24333721;24337012;24398987;24429550;24607909;8612600;8617204;8653826;8700872;9233800;9247316;9684805 7424 P49767;Q6FH59 ABBA01070416;ABBA01070417;AC092673;AC093801;AF020393;AK313879;AMYH02010558;AMYH02010559;AW294939;BC035212;BC063685;BF528469;CH471056;CQ858314;CR541897;CS023800;CS037003;CS067230;CS148543;CS172365;CS172813;CS367313;DA044965;FB510793;HC040685;KF573691;NG_034216;NM_005429;U43142;U58111;X94216 AAA85214;AAB02909;AAB82540;AAH35212;AAH63685;ABM82088;ABM84271;ABM85407;ABM87665;BAG36605;CAA63907;CAG46695;CAH23418;CAI59112;CAI63838;CAI84578;CAJ29667;CAJ32890;CAJ32903;CAL32724;CAV32970;CBH30535;EAX04717;NP_005420;P49767 Hs.435215 1727865;1756527;1760347;1850334;1855456;2159949;2218136 G01971;G63349;SHGC-141922;SHGC-143559;SHGC-53939;SHGC-59791;VEGFC_3346 Flt4-L;LMPH1D;VEGF-C;VRP FLT4 ligand DHM;OTTHUMP00000218843;vascular endothelial growth factor-related protein APPROVED protein-coding ENSG00000150630 HGNC:12682 03317 601528;615907 REVIEWED 1323223 VGLL4 vestigial-like family member 4 INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; arsenous acid; benzo[a]pyrene 3 3 3 p25.3 11532949 11697489 - 11597543 11762220 - 11556067 11720768 - 1580863;6480464 12477932;14702039;15140898;15489334;16344560;18029348;19240061;19322201;20379614;20702774;21044950;21079607;21839727;22094256;23319000;24068947;24525233;8590280;8889548 9686 C9JBN2;C9JX59;E7EQU6;E7ERW0;E7EUJ2;E7EWF5;F8W708;F8WBN7;G5E9F4;G5E9M7;G5E9M9;Q14135 ABBA01025216;ABBA01025217;AC022001;AC090939;AI809612;AK126479;AK130542;AK300344;AK307708;AK308761;AMYH02006276;AMYH02006277;AMYH02006278;BC000763;BC001514;BC003038;BU682809;CH471055;D50911;DA301780;DA321008;DA383197;DA386938;DA496407;DA525713;DA798358;DR159250;HY020255;KF457586;KF457588;NM_001128219;NM_001128220;NM_001128221;NM_001284390;NM_001284391;NM_014667;XM_006713423 AAH01514;AAH03038;ACE86422;ACE87097;BAA09470;BAC85375;BAG62089;EAW64098;EAW64099;EAW64100;EAW64101;EAW64102;EAW64103;EAW64104;EAW64105;EAW64106;NP_001121691;NP_001121692;NP_001121693;NP_001271319;NP_001271320;NP_055482;Q14135;XP_006713486 Hs.740389 1335445;1340089;1644359;1656942;1686640;1757349;1852170;2129515;2134684;2164110;2178262 D3S3680;D3S3714;D3S3828;RH15949;RH25345;RH36277;RH48202;SHGC-144750;SHGC-76706;SHGC-76714;SHGC-76717 KIAA0121;VGL-4 OTTHUMP00000160156;OTTHUMP00000207604;OTTHUMP00000207651;OTTHUMP00000207654;OTTHUMP00000209401;OTTHUMP00000209402;OTTHUMP00000209403;Vestigial-like 4;transcription cofactor vestigial-like protein 4;vestigial like 4 APPROVED protein-coding ENSG00000144560 HGNC:28966 11672 VALIDATED 1603820 VHLL von Hippel-Lindau tumor suppressor-like Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that selectively ubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediated degradation. Inactivation of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog that lacks one of two key domains necessary for VHL function. This gene may contribute to the regulation of oxygen homeostasis and neovascularization during placenta development. This gene is intronless, and can also be interpreted as a retrotransposed pseudogene of the VHL locus located on chromosome 3. However, the protein is represented in this RefSeq due to evidence in PMID:14757845 that strongly suggests it is translated. The same publication also indicates that this protein binds HIF alpha but fails to recruit the E3 ubiquitin ligase complex, and it therefore functions as a dominant-negative VHL protein and a protector of HIF alpha. [provided by RefSeq, Jan 2010] 1 1 1 q22 129341390 129342403 - 156268415 156269428 - 156298624 156299637 - 6480464;8554872 10475385;12477932;14757845;20139978;7566098 391104 Q6RSH7 AA324790;ABBA01016664;AL589685;AMYH02001970;AY494836;BC130596;BC130598;NG_012639;NM_001004319 AAI30597;AAI30599;AAS48916;NP_001004319;Q6RSH7 Hs.532378 VHLP;VLP VHL pseudogene;VHL-like protein;von Hippel-Lindau-like protein APPROVED protein-coding HGNC:30666 15648 REVIEWED 1349598 VHLP VHL pseudogene 10475385 27444 HGNC:12688 7207570 VIM-AS1 VIM antisense RNA 1 ASSOCIATED WITH Cataract, Nuclear Diffuse Nonprogressive (inferred); Melanoma (inferred) 10 10 10 p13 17189505 17202159 - 17256245 17258871 - 17214239 17229985 - 8554872 12477932;24097068 100507347 ABBA01034559;AL133415;AMYH02022245;BC078172;BG492614;BG495699;BM923888;H08157;HG502702;HG502703;NR_108060;NR_108061 Hs.740502 1652393 A005E29 RP11-124N14.4 ncrna ENSG00000229124 HGNC:44879 VALIDATED 1347824 VILL villin-like The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 37969450 37983047 + 38032217 38048676 + 37990726 38007185 + 737633;1580863;6480464 12477932 15489334;16921170;18006815;18022635;9179494 50853 C9JUR8;D6R9H2;E9PFV5;H7BZ43;O15195 AB209574;ABBA01024840;AC105752;AC144536;AK309304;AL702875;AMYH02006564;BC000243;BC004300;CH471055;D88154;NM_015873;XM_005265191;XM_005265192;XM_006713183;XM_006713184;XM_006713185;XR_245137 AAH00243;AAH04300;ABM83469;ABM86680;BAA21668;BAD92811;EAW64506;NP_056957;O15195;XP_005265248;XP_005265249;XP_006713246;XP_006713247;XP_006713248 Hs.103665 1337551;1706160;1712526;2159839;2191415;7185231;7186258 AU047556;D3S1298;MARC_21622-21623:1033069530:1;SHGC-76834;SHGC-80604 OTTHUMP00000161384;villin-like protein APPROVED protein-coding ENSG00000136059 HGNC:30906 18283 REVIEWED 1316011 VIL1 villin 1 This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008] 2 2 2 q35 213050445 213080856 + 219283838 219314248 + 218419115 218449525 + 1580863;6480464;8554872 11500485;12445810;12477932;12937273;14594952;15272027;15342556;15342783;15576363;16189514;16921170;17182858;17229814;17353931;17537734;17606613;17847007;18029348;18054784;18307996;19056867;19371634;19377296;1961750;19808673;21623163;21741320;22530999;23383273;23533167;2846586;2892781;3453110;3510866;3793760;6893424;8125298 7429 B4DV78;C9J2B5;H7C0B6;P09327;Q53F91 A07400;A14103;ABBA01023868;AC021016;AC073838;AK223398;AK300965;AK313709;AMYH02005792;BC017303;BP329402;CH471063;CS223375;NM_007127;X04657;X12901 AAH17303;AAY14886;BAD97118;BAG36454;BAG62590;CAA00664;CAA01148;CAA28355;CAA31386;CAJ46927;EAW70619;EAW70620;NP_009058;P09327 Hs.654595 1744585;2108991;2173833 D2S2722;GDB:542905;VIL1_8718 D2S1471;VIL OTTHUMP00000164145;OTTHUMP00000207159;villin-1 APPROVED protein-coding HGNC:12690 01898 193040 REVIEWED 6482766 VIM2P vimentin 2, pseudogene (functional) 6 6 6 q22.32 127665793 127667089 - 126923501 126924797 - 126602355 126603651 - 24338898;24757148 100130535 ABBA01025941;AL359535;AL450347;AMYH02014440;NG_022326 1716169 RH121107 VIM2;VIMP1;lncRNA-CIR APPROVED pseudo HGNC:43891 INFERRED 619561 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011] 12 12 12 q13.11 47032871 47096518 - 48235320 48298814 - 47841537 47905031 - 1331525;1580363;1580364;1580365;1580366;1624354;1580863;4889847;4889867;4889839;4889845;4889866;4889830;4889868;4889914;4889842;4889853;4889854;4889843;4889849;4889864;4889832;4889871;5147559;4889833;4889851;6480464;6907045;7240710;8157631;8158062;8158065;8157624;8157625;8157626;8157627;8157632;8158056;8158061;8158067;8158081;8158058;8158073;8157628;8157635;8158069;8158077;8158063;8157629;8157620;8158054;8158055;8158057;8158064;8158080;8158053;8158060;8158066;8158068;8158076;8158072;8158074;8158082;8158083;8157637;8158085;8157630;8157634;8158070;8158075;8157633;8157636;8158071;8554872;8663430;8699517 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7421 B4DRV7;F1D8P8;F8VPF8;F8VRJ4;F8VVY8;F8VXQ9;P11473 AB002168;AB307700;ABBA01031471;ABBA01031472;ABBA01031473;AC004466;AC121338;AF026260;AK024830;AK225844;AK299446;AK312267;AMYH02026416;AX151193;AY342401;AY427834;AY827087;BC033465;BC060832;BM685276;BM908433;BQ002808;BX355584;CF138099;CH471111;DA721726;HQ692836;J03258;M65208;NG_008731;NM_000376;NM_001017535;NM_001017536;X67482;XM_006719587 AAA61273;AAA61274;AAB95155;AAH60832;AAP88938;AAR10771;AAV85448;ABZ92194;ACE86616;ACE87297;ADZ17347;BAA83389;BAG35198;BAG61419;BAH02291;CAA47824;CAC42552;EAW57959;EAW57960;EAW57961;EAW57962;EAW57963;NP_000367;NP_001017535;NP_001017536;P11473;XP_006719650 Hs.524368 1653008;1744035;1755119;2162573;2218904;2218906;2218908;2218910;2218920;2218922;2218924;2218928;2218930;2218932;2218934;2218936;2218938;2218940;2218944;2218946;2218950;2218952;2218954;2218956;2218958;2218960;2218962;2218964;5017005;5022699;5094566 1b-2k;1c-12h;1c-2kb;1c-8h;1gA;1gB;1gC;GDB:384887;RH17584;SHGC-142050;VDR;VDR1d+7h;VDRU1;VDRU2;VDRU3;VDRU4;VDRU5;VDRU5-PoA;VDRU6;VDR_1a-10h;VDR_1a-5h;VDR_1ad;VDR_E1c;VDR_E2;VDR_E3;VDR_E4;VDR_E5;VDR_E6;VDR_E78;VDR_E9;WI-17447 NR1I1;PPP1R163 1,25-dihydroxyvitamin D3 receptor;OTTHUMP00000242391;OTTHUMP00000242392;OTTHUMP00000242393;nuclear receptor subfamily 1 group I member 1;vitamin D nuclear receptor variant 1;vitamin D3 receptor;vitamin d (1,25-dihydroxyvitamin d3) receptor 1643456;2289507 BW448_H;BW74_H APPROVED protein-coding ENSG00000111424 HGNC:12679 03463 166710;277440;601769 REVIEWED 1601754 VIMP VCP-interacting membrane protein This gene encodes a member of the selenoprotein family, characterized by a selenocysteine (Sec) residue at the active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Studies suggest that this protein may regulate cytokine production, and thus play a key role in the control of the inflammatory response. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] 15 15 15 q26.3 78224059 78230545 - 101811214 101817700 - 101270909 101277520 - 6480464;7240710 10931946;12031974;12477932;12663463;12775843;14702039;15063746;15161744;15215856;15229221;15489334;16186509;16186510;16227999;16289116;16574427;16751776;17210132;17374524;17641917;17661913;17872946;17880573;18029348;18068137;18199748;18625033;18675776;18710632;18728048;18974842;19144102;19164805;19336475;19398551;19948975;20114070;20378690;20619427;21052528;21456042;21832065;21890473;21906983;22479358;22505724;22700979;22708491;23161441;23602568;23614019;23776519;23829426;23867461;23914919;24068947;24089527;24471570;24816145;7829101;8125298;8889548 55829 E9PJB8;E9PN30;Q6GYA4;Q9BQE4 AA487772;ABBA01020524;AC023024;AF157317;AF328864;AI673590;AK026455;AK097011;AK225955;AK314723;AMYH02031170;AY324824;AY618665;BC005840;BC107774;BG829960;BI494034;BQ014190;BU740863;CH471101;DQ578816;DW430970;NG_013322;NM_018445;NM_203472 AAF67483;AAH05840;AAI07775;AAK15708;AAP85541;AAT46592;EAX02295;NP_060915;NP_982298;Q9BQE4 Hs.32148 1654841;1696974;5106027 RH101959;RH46969;SHGC-146438 AD-015;ADO15;MGC104346;MGC2553;SBBI8;SELS;SEPS1 OTTHUMP00000232899;OTTHUMP00000232904;OTTHUMP00000232905;OTTHUMP00000232906;selenoprotein S APPROVED protein-coding ENSG00000131871 HGNC:30396 12133 607918 REVIEWED 6481353 VIPR1-AS1 VIPR1 antisense RNA 1 p22.1 100874007 AA620928;AC092047;NR_046654 Hs.600642 APPROVED ncrna HGNC:40610 VALIDATED 1351893 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 14 14 14 q24.3-q31 57931580 57962552 - 77893018 77923983 - 77426675 77457640 - 6480464;7240710;8554872;8699517 12477932;12508121;14702039;15345747;15489334;15592455;16189514;16344560;19109425;20190753;20578233;21145461;22677173;22753090;22939629;23002115;23918659;24255178;24816145;8125298;8889549 63894 B4DMB7;G3V4K3;G3V549;Q6IA61;Q9H9C1 AA010625;ABBA01030647;ABBA01030648;AF111168;AK022769;AK022925;AK024661;AK098254;AK222706;AK297388;AK298354;AMYH02029571;AW629161;BC015054;CH471061;CR457294;DA794284;NG_023421;NM_001193314;NM_001193315;NM_001193316;NM_001193317;NM_022067 AAD09624;AAH15054;BAB14237;BAB14310;BAB14951;BAD96426;BAG53601;BAG59829;BAG60598;CAG33575;EAW81286;EAW81287;EAW81288;EAW81289;EAW81290;NP_001180243;NP_001180244;NP_001180245;NP_001180246;NP_071350;Q9H9C1 Hs.16157 1650850;1680290;1695004;2123500;2145874 G35725;G35916;G44715;RH11279;RH77763 C14orf133;FLJ12707;SPE-39;SPE39;VPS16B;hSPE-39 OTTHUMP00000246365;OTTHUMP00000246366;OTTHUMP00000246367;OTTHUMP00000246368;OTTHUMP00000246369;VIPAR;VPS33B interacting protein, apical-basolateral polarity regulator;VPS33B-interacting protein;VPS33B-interacting protein in apical-basolateral polarity regulator;VPS33B-interacting protein in polarity and apical restriction;VPS33B-interacting protein involved in polarity and apical protein restriction;protein spe-39 homolog;spermatogenesis-defective protein 39 homolog APPROVED protein-coding ENSG00000151445 HGNC:20347 10710 613401;613404 REVIEWED 735637 VIPR1 vasoactive intestinal peptide receptor 1 This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 3 3 3 p22 42484508 42519469 + 42530791 42579065 + 42489299 42537573 + 1580863;5685626;6480464;5685622;5685618;8554872 17611633;19309439;21129425 10867004;11027527;11072126;11160313;11812005;11812772;11834941;11859927;11859928;11930171;11981043;12036966;12050216;12094871;12133828;12225791;12429744;12446722;12477932;12690118;14599709;14702039;15171718;15247290;15451021;15452121;15670850;15932876;16037943;16344560;16520374;16552823;16554109;16888162;16888167;16888206;16888207;16934434;17077178;17110338;17651798;17883247;17885205;18000164;18029348;18174366;18240029;18351280;18383379;18577758;18597186;18663606;18668120;19086053;19598235;20014941;20026142;20424473;20691743;20706588;20922191;21711977;21769421;21896307;21988832;22166542;22291440;22763881;23651810;23898208;24671823;24788249;7708752;7818527;7917790;807467;8179610;8389448;8390245;8639654;8886855;8889548;9927997;9928020;9973484 7433 B4DNY6;C9JDT8;C9JH33;F2Z2U6;P32241 AB065669;ABBA01024768;AC092047;AK056819;AK123943;AK126759;AK293548;AK294609;AK298115;AK314334;AMYH02006628;AMYH02006629;BC064424;BU681817;CH471055;DA200439;EF577396;FB659868;L13288;L20295;NG_030371;NM_001251882;NM_001251883;NM_001251884;NM_001251885;NM_004624;U11079;U11080;U11081;U11082;U11083;U11084;U11085;U11086;U11087;X75299;XM_005265437;XM_005265438;XM_005265439;XM_005265440;XM_005265441;XM_006713323 AAA36802;AAA36805;AAB60362;AAH64424;ABQ52416;BAC05895;BAG36980;BAG51813;BAG57026;BAG57795;BAG60398;CAA53046;CAS01788;EAW64649;EAW64650;EAW64651;EAW64652;NP_001238811;NP_001238812;NP_001238813;NP_001238814;NP_004615;P32241;XP_005265494;XP_005265495;XP_005265496;XP_005265497;XP_005265498;XP_006713386 Hs.348500 1708574;1721219;1733828;1797034;2119878;2124329;5094705;5117278 D3S1497;G59451;GDB:455353;MARC_17029-17030:1023294211:1;RH68684;SHGC-76862;SHGC-85073;VIPR1_387 FLJ41949;HVR1;II;PACAP-R-2;PACAP-R2;RDC1;V1RG;VAPC1;VIP-R-1;VIPR;VIRG;VPAC1;VPAC1R;VPCAP1R OTTHUMP00000162603;OTTHUMP00000209290;PACAP type II receptor;VIP and PACAP receptor 1;VIP receptor, type I;pituitary adenylate cyclase activating polypeptide receptor, type II;pituitary adenylate cyclase-activating polypeptide type II receptor;vasoactive intestinal polypeptide receptor 1 APPROVED protein-coding ENSG00000114812 HGNC:12694 01890 192321 REVIEWED 1352794 VIS1 viral integration site 1 1682866 7435 U56440 HGNC:12696 164755 1353199 VIT vitrin ENCODES a protein that exhibits glycosaminoglycan binding (inferred); INVOLVED IN extracellular matrix organization (inferred); positive regulation of cell-substrate adhesion (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN interstitial matrix (inferred); INTERACTS WITH arsenous acid; benzo[a]pyrene; cadmium atom 2 2 2 p22.2 36764899 36882980 + 36923833 37041937 + 36696690 36814794 + 6480464;8554872 10830112;12388743;12477932;12766061;12975309;14702039;15489334;20379614;9847074 5212 B5MD45;C9J6F5;H7C587;Q6UXI7 ABBA01074966;ABBA01074967;ABBA01074968;AC007363;AF063833;AK056772;AK292149;AK299426;AL832679;AMYH02003606;AY358338;BC061519;BC128260;CD679226;CH471053;NM_001177969;NM_001177970;NM_001177971;NM_001177972;NM_053276;XM_005264367 AAF19243;AAH61519;AAI28261;AAL18263;AAQ88704;BAB71279;BAF84838;BAG61406;EAX00416;EAX00417;EAX00418;EAX00419;NP_001171440;NP_001171441;NP_001171442;NP_001171443;NP_444506;Q6UXI7;XP_005264424 Hs.137415 1340706;1670266;1722547;1781828;1854160;2150951 D6S1558;G60201;RH45772;RH68949;SHGC-172307;SHGC-57668 DKFZp313L1517;MGC149746;MGC70561 OTTHUMP00000201298;OTTHUMP00000201299;OTTHUMP00000201300;OTTHUMP00000214286;OTTHUMP00000214317 protein-coding ENSG00000205221 HGNC:12697 18284 VALIDATED 737311 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 3 3 3 p25.3 10118983 10129426 + 10183319 10195354 + 10141635 10153670 + 1580368;1580369;1580371;1358257;1559297;1580561;2325176;2325181;2325183;625549;2325022;2325190;2325169;6480464;6483358;6484113;6907133;6907045;7240710;8554872;8699517 11880179;12500216;15063765;15601820;15611513;15932632;16210343;19065635;19364912;19399409;19690016;20125055;20302395;22035299;9488521 10205047;10318914;10353251;10364675;10408776;10421634;10449727;10491320;10523847;10533030;10535940;10587522;10627136;10635329;10823831;10850420;10878807;10944113;10973499;11024059;11226425;11292861;11292862;11331613;11358837;11384984;11483638;11504942;11517223;11545595;11566883;11574546;11641274;11709017;11739384;11749004;11779168;11840338;11865071;11865075;11908068;11921283;11986208;11987242;11990703;12000816;12004076;12016154;12032852;12036906;12048197;12050673;12056827;12086860;12086861;12097293;12114475;12114495;12169691;12205091;12209156;12351678;12374282;12378530;12393546;12414898;12415268;12460920;12464182;12468553;12477932;12482756;12490973;12510195;12511881;12538644;12586829;12604794;12606543;12609565;12640117;12644949;12673678;12682018;12682336;12684640;12692265;12697815;12743597;12767066;12781449;12808024;12810083;12821933;12839965;12844285;12912922;12925778;12937142;13679920;13985160;14506252;14517280;14531799;14556007;14600153;14604959;14636579;14667507;14691445;14691554;14722919;14726398;14729622;14767570;14963040;14973063;14985465;15060148;15082527;15084514;15122713;15162797;15231748;15300849;15448019;15467305;15530850;15572213;15604095;15607616;15608669;15611064;15696489;15721254;15750626;15777842;15805242;15809750;15824109;15824735;15849821;15893810;15921386;15935760;15962286;15966899;15985433;15998523;16107702;16140212;16142346;16144691;16170373;16208141;16234850;16261165;16278378;16314641;16325183;16407835;16503656;16506218;16511565;16611863;16669786;16678111;16707008;1673491;16768548;16769276;16849532;16856496;16884327;16892044;16951198;16983094;17006605;17047048;17060462;17069461;17101696;17102080;17132228;17200123;17244529;17245122;17255293;17264095;17296901;17339318;17344222;17350623;17353931;17407064;17438007;17439941;17450132;17486080;17526729;17555795;17558023;17568584;17639058;17661816;17680521;17688370;17696210;17698809;17786294;17825299;17828303;17846357;17898043;17906660;17912253;17919893;17922844;17936701;17954272;17967880;17973242;17973296;17981124;17986458;17997830;17998064;18072267;18073334;18079682;18085246;18094722;18162774;18173839;18187417;18212329;18222538;18223282;18245539;18264140;18285459;18305400;18323857;18359287;18389622;18408496;18416845;18423895;18424433;18426857;18446368;18474617;18517280;18551016;18559510;18607865;18635227;18676741;18685280;18694926;18751708;18751980;18775313;18780286;18806787;18836774;18950731;18985005;18998488;19018165;19029228;19030229;19056930;19061835;19062180;19064569;19073886;19123984;19133167;19145771;19147576;19158274;19159641;19162062;19208735;19215943;19216840;19223516;19228690;19238077;19252526;19258401;19280651;19288063;19305426;19322201;19336503;19336759;19340311;19343621;19351817;19399650;19401348;19408298;19411751;19419968;19458911;19464057;19464396;19525194;19574279;19584355;19602254;19620968;19629420;19649731;19695223;19706539;19759417;19764026;19801654;19806577;19808854;19814753;19825962;19906784;19913121;19915015;19915370;19933033;19940151;19940550;20049704;20068166;20137853;20145706;20151405;20185829;20205103;20208144;20300531;20301636;20301715;20375333;20382342;20382408;20420027;20431476;20447124;20453000;20560986;20567917;20599784;20628086;20637892;20639871;20651059;20680678;20724477;20802534;20844582;20855504;20863722;20871634;20952286;20964835;20973793;20978146;20978319;20980436;21042786;21139048;21145461;21151099;21204227;21233420;21258414;21299348;21332579;21335603;21358672;21362373;21386872;21386990;21415706;21436690;21463266;21493813;21528828;21547579;21556796;21602888;21602890;21606165;21625219;21632985;21642472;21658608;21685785;21685897;21715564;21725364;21763962;21778301;21791076;21798997;21832049;21876117;21888897;21890473;21942715;21949687;21962529;21972040;21993671;22006925;22020339;22022277;22071692;22084938;22086907;22105711;22125026;22150821;22156657;22234250;22270996;22284679;22286099;22286234;22351759;22357542;22389506;22393103;22438210;22462637;22516261;22532874;22585604;22642103;22649212;22673518;22673568;22714833;22718905;22799452;22806541;22825683;22906772;22931246;22932900;22946750;22948661;23011899;23063455;23074928;23079206;23151618;23159849;23203444;23217559;23224817;23255108;23298237;23315288;23318261;23338840;23387829;23393199;23395608;23401859;23403324;23407919;23434161;23455319;23455924;23473032;23481210;23558940;23580587;23601303;23611775;23612971;23626751;23673869;23730213;23785518;23788249;23840444;23842656;23872148;23881929;23902947;23928302;23961993;23964080;23976881;23990666;24002598;24015760;24029645;24067370;24112038;24145437;24149047;24149212;24166983;24250222;24288256;24316222;24335534;24344197;24359042;24394472;24422631;24446253;24469044;24550497;24581539;24583008;24650032;24715760;24899725;7563486;7566098;7604013;7660122;7660130;7690964;7728151;7759077;7829101;7987306;7987327;8069849;8183553;8270255;8493574;8522307;8550742;8592333;8634692;8674032;8700833;8730290;8733131;8765323;8825918;8863170;8931697;8956040;9122164;9156047;9271438;9341197;9399847;9447969;9651579;9663592;9671762;9751722;9829911;9829912;9880225 7428 B4E1V7;P40337 AA361862;ABBA01020389;AC034193;AF010238;AF088066;AK304002;AK309560;AK315799;AMYH02006250;AMYH02006251;AMYH02006252;AW022843;BC027957;BC058831;BG284971;BG288777;BG914051;BM564781;BX100230;CH471055;D58014;HI574030;HI574032;L15409;NG_008212;NM_000551;NM_198156;U54612;X96489 AAA98614;AAB64200;AAH27957;AAH58831;BAG38142;BAG64919;CAA65343;CBX47504;CBX47505;EAW64064;EAW64065;EAW64066;EAW64067;EAW64068;NP_000542;NP_937799;P40337 Hs.517792 1674494;1743135;1743613;1743615;1743617;1743619;1743621;1743895;1744557;1744559;1744561;1744563;1744565;1774601;2146842;2184369;2184443;2219752;5015404;5015961;5016478;5016596;5016700;5017215;5020414;5020946;5022200;5022578;5022588;5117897 D15S1477;D1S1423;D5S1597E;GDB:270439;GDB:361137;GDB:361141;GDB:361144;GDB:361147;GDB:361151;GDB:375126;GDB:434012;GDB:532940;GDB:532945;GDB:532951;GDB:532957;GDB:532965;GDB:631802;GDB:631813;L17688;L17705;L17971;L18426;RH16642;RH71303;RH79802;SHGC-31692;SHGC-33879;SHGC-57727;STS-L15409;VHL__5065 HRCA1;RCA1;VHL1;pVHL OTTHUMP00000158850;OTTHUMP00000158851;elongin binding protein;protein G7;von Hippel-Lindau disease tumor suppressor;von hippel-lindau syndrome homolog APPROVED protein-coding HGNC:12687 01905 144700;171300;193300;263400;608537 REVIEWED 1604423 VKORC1P1 VKORC1 pseudogene 1 X X X p22.11 32010235 32011065 + 27881949 27882779 + 27863832 27864662 + 414355 ABBA01072680;AC112492;AMYH02039076;NG_004115 pseudo HGNC:33182 INFERRED 1353419 VKORC1L1 vitamin K epoxide reductase complex, subunit 1-like 1 ENCODES a protein that exhibits vitamin-K-epoxide reductase (warfarin-sensitive) activity; INVOLVED IN cellular response to oxidative stress; peptidyl-glutamic acid carboxylation; vitamin K metabolic process; FOUND IN endoplasmic reticulum membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; benzo[a]pyrene diol epoxide I 7 7 7 q11.21 66693876 66775381 - 65338257 65424545 + 65873270 65959563 + 1580863;6480464 12477932;14702039;14765194;15489334;16751776;17207965;17996924;19322201;20379614;21103663;21139048;21367861;21890473;21963094;23284715;23291589;23928358;24068962;24250222;24532791;24816145 154807 A8K0F7;Q8N0U8 ABBA01049011;ABBA01049012;ABBA01049013;ABBA01049014;ABBA01049015;AC073261;AC093485;AC093582;AK000750;AK001747;AK055860;AK124688;AK289522;AK304077;AL137548;AMYH02015894;AY423045;BC007465;BC014249;BC027734;BM991935;BX647631;CH471140;CR627471;DQ572761;NM_001284342;NM_173517;XM_006715857 AAH27734;AAR82915;ADQ32268;BAF82211;BAG64984;CAH10673;EAX07952;NP_001271271;NP_775788;Q8N0U8;XP_006715920 Hs.427232 1341340;1676704;1677000;1680276;1682634;1686832;1687179;5015881;5015961;5016478;5017170;5022463;5022578;5024761;5037552;7188006 D15S1477;D1S1423;D3S1673;D7S2549;D8S2279;GDB:335751;GDB:434012;L29953;RH36905;RH40696;RH47576;RH69342;RH69426;RH92824;RH93933 DKFZp762H0113 OTTHUMP00000159822;VKORC1-like protein 1;vitamin K epoxide reductase complex subunit 1-like protein 1 protein-coding ENSG00000196715 HGNC:21492 12312 608838 VALIDATED 1604306 VKORC1 vitamin K epoxide reductase complex, subunit 1 Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 29191224 29195328 + 31102175 31106699 - 31090854 31094955 - 2315841;6480464;7240710;8554872;8699517 19884975 11154138;12384421;12477932;12975309;14765194;14765195;15276181;15358623;15489334;15630486;15716279;15790782;15883587;15888487;15930419;15947090;15972850;15978113;16030016;16141794;16201835;16270629;16270630;16420583;16424822;16432637;16513444;16549638;16580898;16611310;16611750;16634640;16676068;16677080;16700826;16815313;16847429;16879214;16890578;17015052;17031720;17048007;17049586;17110455;17111199;17164330;17189218;17192772;17301738;17325732;17329985;17391071;17413769;17510308;17549303;17596133;17653141;17666014;17721328;17764537;17849045;17883698;17883699;17899045;17961434;17989110;17995970;18030307;18034618;18034619;18183038;18218987;18240904;18252229;18281915;18305455;18322281;18370846;18449434;18466099;18466315;18480003;18516070;18523153;18532998;18535201;18542936;18559094;18574025;18629445;18680536;18680736;18690342;18698879;18754001;18781852;18805772;18813101;18826394;18841283;18848323;18855533;18950464;19018718;19018719;19025725;19034590;19056482;19074728;19077919;19099951;19117406;19124480;19135231;19139476;19172700;19177029;19181737;19207028;19225451;19233910;19297219;19300499;19319511;19320825;19324988;19376320;19387626;19436136;19530970;19538716;19545555;19567378;19578179;19652895;19663669;19738376;19745563;19780415;19781295;19794411;19842934;19874474;19875892;19941044;19942260;19948975;19958090;20020283;20043560;20072124;20073138;20075209;20121287;20149073;20163834;20193673;20203262;20204461;20210733;20226775;20228265;20339191;20339978;20354686;20359285;20376629;20381283;20386359;20421126;20434758;20442691;20459419;20488169;20499136;20504253;20532885;20553802;20555338;20569971;20575749;20579077;20581661;20585445;20585834;20597268;20602615;20615525;20621035;20637959;20653674;20653676;20696932;20709439;20716240;20733952;20811787;20831047;20833655;20833980;20842355;20854800;20860466;20885015;20930419;20946155;20978134;21044367;21057703;21063236;21103663;21110192;21127708;21148049;21176721;21179214;21179439;21215088;21248432;21362126;21544933;21562135;21638223;21639946;21651319;21725053;21766908;21767890;21800014;21883387;21939388;22010099;22023024;22075505;22130532;22130800;22173503;22188360;22198820;22252093;22290467;22349464;22393834;22394334;22409277;22452429;22496424;22528326;22533669;22534826;22571356;22592842;22808915;22854539;22855348;22864379;22871975;22915323;22923610;22952875;22990118;23018470;23039877;23065265;23113310;23124848;23154637;23159639;23183958;23201087;23279643;23285254;23362849;23452238;23455922;23473641;23481074;23563037;23571513;23586031;23691226;23703341;23710884;23726967;23732872;23774101;23800980;23918929;23928358;23932037;23972066;23982176;24029542;24198402;24288433;24399734;24474498;24601977;24816145;24855061;24939302 79001 A8MV79;F2Z3Q2;F8W9H0;H0YF24;I3L1P9;Q9BQB6 ABBA01042077;AC135050;AF176924;AK125618;AK129513;AK289790;AK312005;AMYH02031842;AMYH02031843;AY423044;AY466113;AY521634;AY587020;BC000828;BC002911;BI822140;CD249837;CH471192;CS811288;NG_011564;NM_024006;NM_206824 AAH02911;AAQ13668;AAR28759;AAR82914;AAS01052;AAS83106;ADZ15766;BAC86222;BAF82479;BAG34943;CAP58832;EAW52165;EAW52166;EAW52167;EAW52168;NP_076869;NP_996560;Q9BQB6 Hs.324844 1338621;1340651;1687367;1687902;5020948;5109281;5117897 D16S3131;D16S419;D1S1425;G35510;GDB:631813;RH64898;RH69900 EDTP308;FLJ00289;IMAGE3455200;MGC2694;MST134;MST576;VKCFD2;VKOR OTTHUMP00000045061;OTTHUMP00000045062;OTTHUMP00000045063;OTTHUMP00000045064;phylloquinone epoxide reductase;vitamin K dependent clotting factors deficiency 2;vitamin K epoxide reductase complex subunit 1;vitamin K1 2,3-epoxide reductase subunit 1;vitamin K1 epoxide reductase (warfarin-sensitive) APPROVED protein-coding ENSG00000167397 HGNC:23663 10540 122700;607473;608547 REVIEWED 1604422 VKORC1P2 VKORC1 pseudogene 2 1 1 1 p32 56979103 56979699 - 58694087 58694683 - 58228415 58229011 - 414357 ABBA01074662;AL357373;AMYH02001092;NG_004116 pseudo HGNC:33183 INFERRED 1604972 VMA21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012] X X X q28 150814162 150826340 + 150565657 150577836 + 151397185 151409364 + 6480464;7240710 10757644;10805342;11076863;12477932;14702039;15489336;15977643;16344560;16381901;19322201;19379689;20616343;21139048;22810585;22939629;23315026;23850239;24250222;2892402 203547 Q3ZAQ7 ABBA01037219;AF003627;AF086459;AK025798;AK091301;AK096835;AL833596;AMYH02040778;BC103701;BC103702;BC105693;BC105694;BC110800;CH471169;DA224893;NG_016761;NM_001017980 AAI03702;AAI03703;AAI05694;AAI05695;AAI10801;BAG53371;CAL37544;EAW99403;EAW99404;NP_001017980;Q3ZAQ7 Hs.58633 1687774;1701794;1701914;5015619;5024039;5037552;5109281 D11S3114;D16S325;D1S1425;D8S2279;DXS7076;DXS963E;RH93612 MEAX;MGC125514;MGC125516;MGC131652;XMEA OTTHUMP00000025870;myopathy with excessive autophagy protein;vacuolar ATPase assembly integral membrane protein VMA21 APPROVED protein-coding ENSG00000160131 HGNC:22082 18578 300913 REVIEWED 1606370 VMAC vimentin-type intermediate filament associated coiled-coil protein FOUND IN cytoplasm (inferred); INTERACTS WITH amiodarone; C60 fullerene (ortholog); cadmium dichloride (ortholog) 19 19 19 p13.3 5843814 5849226 + 5904852 5910263 + 5904841 5910252 + 6480464 12477932;14985129;16344560;24250222 400673 Q2NL98 ABBA01055983;AC104532;AK124162;AMYH02035342;BC110802;CH471139;DA541168;NM_001017921 AAI10803;BAG54017;EAW69129;EAW69130;NP_001017921;Q2NL98 Hs.620821 MGC131658 vimentin-type IF-associated coiled-coil protein;vimentin-type intermediate filament-associated coiled-coil protein protein-coding HGNC:33803 18623 VALIDATED 1344797 VMD1 vitelliform macular dystrophy, atypical ASSOCIATED WITH Macular dystrophy, atypical vitelliform (inferred) 7240710 7438 HGNC:12702 153840 733926 VLDLR very low density lipoprotein receptor The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009] 9 9 9 p24 2540058 2572749 + 2621679 2654485 + 2621774 2654485 + 1580813;737740;1625573;1625579;1625568;1625577;1625575;1625570;737739;1358346;1580863;1358468;2317973;2324668;2324671;6480464;6484113;7240710;8554872;8699517 10985956;11342683;11557677;11786096;12764038;12893944;15820235;15878964;15979629;7550352;8603509;8636110;9186864;9507207 10380922;10391209;10571240;10571241;10629142;10827173;11266465;11931574;12167620;12169628;12363388;12477932;12670700;12824284;12857919;12899622;14702039;15064754;15082773;15164053;15863833;15950758;15950998;15953542;16080122;16384981;17330141;17472347;17854420;17890782;17936586;18032585;18039658;18043714;18056683;18277139;18326629;18364738;18685438;19015224;19224153;19393635;19913121;20301729;20427281;20624392;20628086;21047397;21063833;21601501;21642441;21734303;21757650;21890473;21963094;21987572;22005931;22109552;22170052;22189190;22355348;22419519;22532556;22780124;22876580;22973972;23000965;23185271;23670308;23701949;23811271;23813796;24076391;24097068;24733846;7592875;7797576;7828550;8020981;8069294;8083232;8128315;8294473;9132912;9555943;9630508 7436 P98155;Q5VVF5;Q5VVF8;Q8NAN7 AA758887;AB208822;ABBA01065439;AK092381;AK095744;AK289527;AL450467;AMYH02019051;BC136562;BC142653;BC144245;CH471071;D16493;D16494;D16532;DQ067198;L20470;L22431;NG_012741;NM_001018056;NM_003383;S73849;XM_006716864;XM_006716865 AAA53684;AAA61344;AAB31735;AAI36563;AAI42654;AAI44246;AAY46157;BAA03945;BAA03946;BAA03969;BAC03874;BAD92059;BAF82216;BAG53118;EAW58804;EAW58805;EAW58806;EAW58807;EAW58808;NP_001018066;NP_003374;P98155;XP_006716927;XP_006716928 Hs.370422 1745669;1745671;1757951;1774144;1787120;2152525;2153630;2159923;2164329;2170290;2171167;2171382;5093444;5093558;5491860 A009P01;A009Q38;G32721;G32789;GDB:631759;GDB:631760;RH16191;RH17486;SHGC-12535;SHGC-146930;SHGC-155211;SHGC-34403;SHGC-34405;VLDLR;WI-18746 CARMQ1;CHRMQ1;FLJ35024;VLDL-R;VLDLRCH OTTHUMP00000020982;OTTHUMP00000020983;OTTHUMP00000020984;VLDL receptor;very low-density lipoprotein receptor 1643245 BW137_H APPROVED protein-coding ENSG00000147852 HGNC:12698 01895 192977;224050 REVIEWED 1348931 VIP vasoactive intestinal peptide The protein encoded by this gene belongs to the glucagon family. It stimulates myocardial contractility, causes vasodilation, increases glycogenolysis, lowers arterial blood pressure and relaxes the smooth muscle of trachea, stomach and gall bladder. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 6 6 6 q25 153805638 153814605 + 153071932 153080900 + 152750376 152759765 + 1580863;5685613;5685623;5685605;5685615;5685620;5685622;5685624;5685634;5685386;5685387;5685379;4889998;5685380;5685382;5685606;5685612;5685617;5685619;5685602;5685608;4145303;5685374;5685381;5685388;5685375;5685610;5685376;5685601;6480464 15808913;16782752;18158987;18928861;19037032;19055696;19222997;19232006;19467283;19476518;19661153;19792856;19906107;20309012;20340024;20369387;20441697;20442436;20978211;21129425;21281617;21419198;21666233;21693218;21998117;22059987;22140628;22143367 10096039;10446313;10527688;10801840;10933622;11027527;11278902;11713978;11884208;12036966;12220738;12225791;12409228;12477932;12670727;12754213;1318039;14574404;15009665;15093699;15155712;15169929;15247290;15489334;1617429;16189514;16226889;16344560;16697281;16713569;16728406;16893891;16965837;17003842;17087112;17175032;17207965;17275031;17430171;17430175;17448763;17466601;17683807;17703412;17804556;17885205;18234640;18240029;18351280;18383383;18441300;1863695;18663606;18682798;19086053;19136032;19143025;19239625;19258923;19272598;19470168;19508420;19685709;19712974;19950799;20007697;20072116;20180986;20237496;20379146;20398908;20503287;20529207;20554694;20675276;20691743;20692311;21167238;21426768;21969302;22108610;22140573;22207455;22555304;22728770;22914463;22959974;22995328;23168411;23220033;23490535;23517078;23771668;23800435;23864142;23915857;24041830;24228003;2434617;24409325;24492467;24788249;2839091;2987932;2995945;3025882;3202886;3654650;3748844;3899557;4035357;6139527;6571696;807467;8146174;8389448;8889548;9313778;9454823;9603988 7432 H0Y763;P01282 ABBA01025616;AK291959;AK313950;AL133356;AMYH02014745;BC009794;BM971673;CH471051;DA914915;L00157;L00158;M11553;M11554;M14623;M32162;M33027;M36610;M36634;M54930;NM_003381;NM_194435;XM_005267135;XM_006715562 AAA61284;AAA61285;AAA61286;AAA61287;AAA61288;AAA61289;AAA63268;AAA69515;AAH09794;ADQ32372;BAF84648;EAW47724;EAW47725;NP_003372;NP_919416;P01282;XP_005267192;XP_006715625 Hs.53973 1655905;2110033;5014927 RH46694;RH69136;VIP_8719 MGC13587;PHM27 OTTHUMP00000017450;OTTHUMP00000017451;OTTHUMP00000017452;VIP peptides;prepro-VIP APPROVED protein-coding ENSG00000146469 HGNC:12693 15950 192320 REVIEWED 1351062 VIPR2 vasoactive intestinal peptide receptor 2 This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq, Aug 2011] 7 7 7 q36.3 153254268 153370389 - 158820866 158937649 - 159028175 159144957 - 1580863;5685384;6480464;8554872 21295288 10481065;10764955;10801840;11072126;11160313;11193874;11351046;11728828;12036966;12150135;12477932;12690205;15090046;15123239;15302876;15489334;16500728;16552823;16572459;16888203;16934434;17077178;17257640;17883247;18240029;18383383;18577758;19086053;19269029;19470168;19851296;20026142;20072116;20180986;20198315;20379146;20395540;20554694;20691743;21346763;21711977;21721910;21769421;21832049;22763881;22886412;22961270;23073313;23406873;23637909;23818986;24722188;24827637;7733904;7811244;8146174;8757618;8933357;8938447;9454823;9541464;9629281 7434 C9JCP7;E9PCR5;P41587;X5D7Q6 ABBA01032299;ABBA01032300;ABBA01032301;AC004863;AC007269;AF027390;AK131406;AK308955;AK310386;AMYH02017189;AMYH02017190;BC010569;BT007118;CA449700;CH236954;CH471149;KC877184;KF458653;KF510282;KJ534960;KJ534961;KJ534970;L36566;L40764;NM_003382;U18810;X95097;XM_005249561;XM_006716107;XM_006716108;XR_242047;Y18423 AAC09171;AAC37569;AAC41756;AAC50872;AAH10569;AAP35782;ABM84658;ABM92188;AHW56600;AHW56601;AHW56610;BAD18553;CAA64474;CAB41899;EAL23936;EAL23937;EAX04596;NP_003373;P41587;XP_005249618;XP_006716170;XP_006716171 Hs.585052 1689765;1786364;2134104;2138324;5014051;5037552 D7S427;D7S749;D8S2278;D8S2279;RH93213;SHGC-171691 C16DUPq36.3;DUP7q36.3;FLJ16511;PACAP-R-3;PACAP-R3;SCZD16;VIP-R-2;VPAC2;VPAC2R;VPCAP2R OTTHUMP00000200015;OTTHUMP00000200016;OTTHUMP00000200017;PACAP type III receptor;VIP and PACAP receptor 2;helodermin-preferring VIP receptor;pituitary adenylate cyclase-activating polypeptide type III receptor;vasoactive intestinal polypeptide receptor 2 APPROVED protein-coding ENSG00000106018 HGNC:12695 03576 601970 VALIDATED 1318565 VN1R1 vomeronasal 1 receptor 1 Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein encoded by this gene is similar to pheromone receptors and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 55010244 55011556 - 57966542 57968107 - 57455174 57456739 - 1580863;6480464 10973240;11116092;11163270;12044878;12477932;12826614;14702039;15489334;17627382;19952141;20379614;22355687 57191 Q9GZP7 AB083606;ABBA01020808;AC004076;AF255342;AF302903;AK094452;AMYH02036517;AY312477;AY312478;AY312479;BC095508;BG167434;CH471135;NM_020633 AAG10698;AAG22545;AAH95508;AAP85612;AAP85613;AAP85614;BAB89319;BAG52867;EAW72503;NP_065684;Q9GZP7 Hs.677423;Hs.736494 5493199 UniSTS:484716 V1RL1;VNR19I1;ZVNH1;ZVNR1 G-protein coupled receptor GPCR24;V1R-like 1;V1r-like receptor 1;V3r-related gene protein;hGPCR24;vomeronasal olfactory receptor chromosome 19 subtype I member 1;vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1;vomeronasal type-1 receptor 1 APPROVED protein-coding HGNC:13548 05571 605234 REVIEWED 2923010 VN1R100P vomeronasal 1 receptor 100 pseudogene 19 19 19 q13.41 49816773 49817205 + 52767219 52767651 + 52263966 52264398 + 19952141 100312846 ABBA01068260;AC010320;AMYH02036397;NG_015704 pseudo HGNC:37420 INFERRED 3184214 VN1R101P vomeronasal 1 receptor 101 pseudogene 19 19 19 q13.42 50967476 50968384 + 53926051 53926942 + 53422798 53423689 + 19952141 729885 ABBA01068215;AC022137;AMYH02036425;NG_013420 pseudo HGNC:37424 INFERRED 2923009 VN1R102P vomeronasal 1 receptor 102 pseudogene 19 19 19 q13.42 51007652 51007837 - 53966222 53966407 - 53462968 53463153 - 19952141 100312847 ABBA01068215;AC022137;AMYH02036425;NG_015705 pseudo HGNC:37425 INFERRED 3129704 VN1R103P vomeronasal 1 receptor 103 pseudogene 19 19 19 q13.42 51048103 51048969 + 54006646 54007537 + 53503392 53504283 + 19952141 730066 ABBA01068214;AC022137;AMYH02036425;NG_013421 pseudo HGNC:37426 INFERRED 7966955 VLDLR-AS1 VLDLR antisense RNA 1 INTERACTS WITH silicon dioxide 9 9 9 p24.2 2453884 2540638 - 2535652 2622373 - 2535652 2622373 - 6480464 12477932;14702039;22780124 401491 ABBA01065439;ABBA01065440;AF424541;AK092343;AL353614;AL450467;AMYH02019051;BC004474;BC090887;CR627004;HG501855;HG501856;KF458890;NR_015375 AAP97294;BAG52534 Hs.416043 RP11-125B21.2 ncrna ENSG00000236404 HGNC:49621 PREDICTED 2974686 VN1R104P vomeronasal 1 receptor 104 pseudogene 19 19 19 q13.42 51872424 51873341 - 54831506 54832423 - 54320234 54321151 - 19952141 100288195 ABBA01068167;AC008984;AC245884;CU104682;CU457734;CU467018;NG_014074 1815690;1817220;1840716;2042722;2042724;2042726;2042728;2042730;2042732;2042734;2042736;2042738;2042740;2042742;2042744;2103856;2103858 ECD08883;ECD09660;ECD21549;REN92407;REN92408;REN92409;REN92410;REN92411;REN92412;REN92413;REN92414;REN92415;REN92416;REN92417;REN92418;stSG605969;stSG605971 pseudo HGNC:37427 INFERRED 2946935 VN1R105P vomeronasal 1 receptor 105 pseudogene 19 19 19 q13.42 52199500 52200454 + 55159360 55160314 + 54647911 54648865 + 19952141 100288264 ABBA01068150;AC009892;AC245036;CU024913;CU459007;CU467612;NG_014075 1824410;1825740;2045228;2045230;2045232;2045234;2045236;2045238;2045240;2045242;2045244;2045246;2045248;2045250;2045252;2104154;2104156 ECD13303;ECD13978;REN93686;REN93687;REN93688;REN93689;REN93690;REN93691;REN93692;REN93693;REN93694;REN93695;REN93696;REN93697;REN93698;stSG606218;stSG606219 pseudo HGNC:37428 INFERRED 2923008 VN1R106P vomeronasal 1 receptor 106 pseudogene 19 19 19 q13.42 53261237 53261518 + 56218943 56219224 + 55707577 55707858 + 11181995;19952141 100312848 Q9BZ77 ABBA01020859;AC008749;AC010525;AMYH02036474;CH471135;NG_015706 EAW72410 FKSG41 hypothetical protein LOC100132178;uncharacterized protein LOC100132178 pseudo HGNC:37429 INFERRED 2922961 VN1R107P vomeronasal 1 receptor 107 pseudogene 19 19 19 q13.43 55014990 55015199 + 57971279 57971488 + 57459911 57460120 + 19952141 100312849 ABBA01020808;AC004076;AMYH02036517;NG_015707 pseudo HGNC:37431 INFERRED 2922959 VN1R108P vomeronasal 1 receptor 108 pseudogene 20 20 20 p11.1 25788480 25789365 + 25714865 25715750 + 25734229 25735114 + 19952141 100312850 ABBA01048714;AL390198;AMYH02036856;NG_015708 pseudo HGNC:37432 INFERRED 1605251 VMO1 vitelline membrane outer layer 1 homolog (chicken) FOUND IN extracellular vesicular exosome; INTERACTS WITH 8-bromo-3',5'-cyclic AMP; benzene; medroxyprogesterone acetate 17 17 17 p13.2 4703786 4704935 - 4688580 4689729 - 4785285 4786434 - 6480464 12477932;12975309;15340161;15489334;19056867;22025569 284013 Q7Z5L0 ABBA01054775;AC109333;AC233723;AF521892;AMYH02032833;AY359099;BC038467;BC104194;BC104195;BI836994;CD367284;CD367473;CH471108;NM_001144939;NM_001144940;NM_001144941;NM_182566 AAH38467;AAI04195;AAI04196;AAP80865;AAQ89457;EAW90410;EAW90411;NP_001138411;NP_001138412;NP_001138413;NP_872372;Q7Z5L0 Hs.122561 5493647 UniSTS:490057 ERGA6350;MGC125880;MGC125881;PRO21055 vitelline membrane outer layer protein 1 homolog protein-coding ENSG00000182853 HGNC:30387 17333 VALIDATED 2923052 VN1R110P vomeronasal 1 receptor 110 pseudogene X X X p11.23 53170202 53171134 - 48494616 48495547 + 48636228 48637159 + 19952141 100312803 ABBA01046035;AC115618;AMYH02039306;NG_015661 pseudo HGNC:37438 INFERRED 2922956 VN1R109P vomeronasal 1 receptor 109 pseudogene 21 21 q11.2 14463937 14464410 - 13091616 13092089 - 19952141 100312851 AJ239321;AMYH02037511;NG_015709 pseudo HGNC:37434 INFERRED 1352823 VN1R10P vomeronasal 1 receptor 10 pseudogene 6 6 6 p22.1 28898708 28899644 + 27292540 27293742 + 27324761 27325963 + 11181995;12477932;19952141 387316 Q9BX81 ABBA01037993;AF336874;AF352327;AL021808;AMYH02013382;BC107050;CH471081;NR_045612 AAI07051;AAK21300;AAK32715;EAX03091;EAX03092 Hs.326753 FKSG83;MGC129573;VNR6I1P;b24o18.2;hs6V1-1p pseudo HGNC:13550 VALIDATED 731420 VMP1 vacuole membrane protein 1 INVOLVED IN cell junction assembly; single organismal cell-cell adhesion; regulation of autophagy (ortholog); FOUND IN endoplasmic reticulum; autophagic vacuole membrane (ortholog); INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; 2,3,7,8-tetrachlorodibenzodioxine; actinomycin D 17 17 17 q23.1 54248613 54381467 + 57784553 57919610 + 59707502 59840593 + 6480464 11076863;11230166;11256614;11785947;12477932;15466293;15489336;16381901;17724469;17940279;18384814;18550798;19019082;19056683;19322201;19850743;20299819;21173155;21467264;21906983;22144109;22333543;22404213;22535956;22971212;23118302;23316280;23460482;23710913;24365149;24816145 81671 B4DED7;B4DGZ7;K7EK01;K7EL46;K7EL74;K7EL93;K7ELS2;K7EM96;K7EMI0;K7EMN6;K7ENU2;K7EPE7;Q96GC9 AB047551;ABBA01003172;ABBA01003173;ABBA01003174;ABBA01003175;ABBA01003176;ABBA01003177;AC004686;AC025858;AC040904;AC091271;AC244499;AF161410;AF214006;AK024969;AK025987;AK293578;AK293664;AK294854;AK301254;AL136711;AX083452;AX775965;BC009758;BC024020;CH471109;CR533521;DC428792;NM_030938 AAF28970;AAH09758;AAL36461;ABM83495;BAF47368;BAG57048;BAG57110;BAG57958;BAG62821;CAB66646;CAC33315;CAE11682;CAG38552;CAL38428;CAL38503;EAW94390;EAW94391;EAW94392;EAW94393;NP_112200;Q96GC9 Hs.444569;Hs.708260 1650041;1675367;1691716;1691772;1693434;1693442;2131691;2135943 G42203;G42241;G42376;G42384;RH46129;RH48465;RH91780;SHGC-64257 DKFZp566I133;EPG3;TANGO5;TMEM49 ectopic P-granules autophagy protein 3 homolog;transmembrane protein 49;transport and golgi organization 5 homolog APPROVED protein-coding ENSG00000062716 HGNC:29559 15649 611753 VALIDATED 2922953 VN1R112P vomeronasal 1 receptor 112 pseudogene 22 22 22 548 700 - 58708 58860 - 58708 58860 - 19952141 100312854 AL592188;NG_015712 pseudo HGNC:37437 INFERRED 2922955 VN1R111P vomeronasal 1 receptor 111 pseudogene 13 13 13 10495 10728 + 9142 9375 - 18180390 18180623 - 19952141 100312852 ABBA01048751;AL356585;NG_015710 pseudo HGNC:37332 INFERRED 1342547 VN1R11P vomeronasal 1 receptor 11 pseudogene 6 6 6 p21 28656712 28657636 + 27051071 27051995 + 27083292 27084216 + 19952141 387317 ABBA01037986;AL021807;AMYH02013375;NG_015637 VNR6I2P;dJ86C11.7;hs6V1-2p pseudo HGNC:13551 INFERRED 1348597 VN1R12P vomeronasal 1 receptor 12 pseudogene 6 6 6 p21 28606785 28607782 - 27001125 27002122 - 27033346 27034343 - 19952141 387321 ABBA01037986;AL590062;AMYH02013375;NG_015635 VNR6I3P;bA373D17.2;hs6V1-3p pseudo HGNC:18722 INFERRED 733128 VIM vimentin This gene encodes a member of the intermediate filament family. Intermediate filamentents, along with microtubules and actin microfilaments, make up the cytoskeleton. The protein encoded by this gene is responsible for maintaining cell shape, integrity of the cytoplasm, and stabilizing cytoskeletal interactions. It is also involved in the immune response, and controls the transport of low-density lipoprotein (LDL)-derived cholesterol from a lysosome to the site of esterification. It functions as an organizer of a number of critical proteins involved in attachment, migration, and cell signaling. Mutations in this gene causes a dominant, pulverulent cataract.[provided by RefSeq, Jun 2009] 10 10 10 p13 17203520 17212854 + 17269934 17279592 + 17227935 17237593 + 1580863;6480531;6480447;6480471;6480440;6480443;6480618;6480476;6480477;6480511;6480527;1304397;6480519;6480622;6480508;6480446;6480617;6480626;6480480;6480464;6480538;7240710;8552898;6480442;8554872;8699517 10225952;12834255;15527750;15684657;16418842;17306450;18687349;18761105;18802758;19199359;19728994;21250919;21362765;21792832;21938407;21958862;22199233;3780056;6352937;7516431;8833197 10469173;10491200;10613270;10625659;10845700;10852826;10852918;10887173;11082283;11160829;11172097;11243787;11278417;11375989;11423904;11441066;11514563;11581269;11744725;11802775;11827972;11889032;11895474;11911279;12003790;12084347;12099690;12169273;12194205;12202484;12210485;12226091;12244133;12358155;12366696;12429849;12441134;12466525;12477932;12483219;12600646;12639940;12706117;12727854;12750294;12761892;12829607;12906105;14595690;14600259;14702039;14760703;14762106;1478967;14996095;15047060;1516138;15161933;15164054;15231822;15255035;15324660;15345747;15383276;15456890;15489334;15527767;15556930;15592455;15604093;15777792;15846844;16009940;16130169;16159877;16169070;16189514;16226712;16236267;16270034;16289162;16298568;16365157;16487365;16510139;16565220;16568083;16703512;16712842;16769727;16901892;16912072;16944923;16964243;17031402;17050693;17056548;17081983;17083913;1722806;1726101;17266347;17289402;17361185;17373842;17400507;17403663;17476115;17585878;17601350;17620599;17652163;17663720;17703067;17719575;17881773;17960581;18029348;18046501;1812754;18155753;18160415;18176708;18184460;18219106;18241054;18407667;18464297;18632620;18653473;18681838;18695932;18723680;18790770;18811945;18947333;18977241;18985028;18985821;19013628;19117942;19126778;19165527;19168853;1918147;19252475;19270731;19331162;19366731;19386766;19403668;19404921;19420356;19422834;19447876;19476621;19528485;19596686;19617759;19655254;19690979;19695088;19696622;19738201;19765186;19776392;19806221;19826009;19888472;1991513;19915524;19937731;20104255;20109457;20121168;20169076;20171211;20176112;20350213;20358301;20422486;20447406;20468064;20471030;20473970;20516061;20585571;20588206;2059552;20602472;20609218;20618440;20639865;20651380;20701774;20729920;20797700;20856200;20972266;20975101;21057535;21094801;21139048;21145461;21187483;21199468;21203488;21217813;21317457;21319273;21327330;21346197;21442485;21448168;21465480;21491466;21508377;21515330;21664858;21699783;21746880;21769486;21803052;21803859;21832049;21853274;21875946;21890473;21900206;21906983;21914078;21963094;21987572;21988832;2201025;22022619;2203542;22053931;22178446;22216242;22221700;22236966;22251609;22266860;22268729;22304920;22307379;22315367;22340393;22345628;22367194;22395512;22407449;22476851;22505724;2251132;22535769;22584948;22623428;22644514;22659602;22684479;22704062;22730818;22740688;22751105;22759266;22763828;22766839;22797925;22863883;22869704;22879973;22886823;22929228;22939629;22944692;22971934;23000965;23049725;23056278;23072594;23084401;23125841;23135265;23184937;23221510;23224145;2323579;23239149;23254330;23280360;23291835;23292832;23295955;23354842;23357686;23383273;23398456;23412770;23418544;23418554;23455922;23482564;23504025;23562674;23576498;23614934;23663103;23674515;23677639;23682784;23717685;23751022;23773638;23785295;23824807;23824909;23831462;23862649;23873106;23874603;23885119;23885566;23974215;23991044;24001454;24005669;24061457;24075276;24097068;24139214;24173714;24196446;24244333;24284321;24337577;24457600;24474778;24505633;24623428;24642750;24652946;24654937;24657653;2472876;24729088;24736615;24816145;24843142;24942637;24978037;24999993;25001935;2500966;25015289;25027693;25211928;2806127;3027087;3371665;3467175;3661560;3792301;7644499;7842474;7925640;7983050;8125298;8381971;8424456;8523563;8822624;8997639;9150946;9175763;9188594;9190204;9261168;9565595 7431 B0YJC4;B0YJC5;P08670;Q5JVS8;V9HWE1 ABBA01034559;AF328728;AK056766;AK091813;AK093924;AK097336;AK098444;AK222482;AK222507;AK222602;AK290643;AL133415;AMYH02022245;BC000163;BC030573;BC031031;BC066956;BQ050765;CH471072;CR407690;EF445046;EU794672;M14144;M18895;M25246;NG_012413;NM_003380;X16478;X56134;XM_006717500;Z19554 AAA61279;AAA61281;AAA61282;AAH00163;AAH30573;AAH66956;AAN09720;ACA06100;ACA06101;ACA06102;ACA06103;ACJ13726;BAB71275;BAC05002;BAD96202;BAD96227;BAD96322;BAF83332;BAG52420;CAA34499;CAA39600;CAA79613;CAG28618;EAW86215;EAW86216;NP_003371;P08670;XP_006717563 Hs.455493;Hs.691131 1742259;1790305;1798314;2128051;5111937 G43223;GDB:193876;RH11024;VIM;VIM_2538 CTRCT30;FLJ36605;HEL113 OTTHUMP00000019224;OTTHUMP00000019225;epididymis luminal protein 113 APPROVED protein-coding ENSG00000026025 HGNC:12692 01899 116300;193060 REVIEWED 1348444 VN1R13P vomeronasal 1 receptor 13 pseudogene 6 6 6 p21 28633799 28634696 - 27028149 27029046 - 27060370 27061267 - 19952141 387322 ABBA01037986;AL590062;AMYH02013375;NG_015636 VNR6I4P;bA373D17.3;hs6V1-4p pseudo HGNC:18723 INFERRED 1348260 VN1R14P vomeronasal 1 receptor 14 pseudogene 6 6 6 p22-p21 27860618 27861269 - 26631313 26631964 - 26631085 26631736 - 19952141 387320 ABBA01066560;AL513548;AMYH02013354;NG_015634 VNR6I5P;bA457M11.4;hs6M1-5p pseudo HGNC:18721 INFERRED 731072 VEGFA vascular endothelial growth factor A This gene is a member of the PDGF/VEGF growth factor family and encodes a protein that is often found as a disulfide linked homodimer. This protein is a glycosylated mitogen that specifically acts on endothelial cells and has various effects, including mediating increased vascular permeability, inducing angiogenesis, vasculogenesis and endothelial cell growth, promoting cell migration, and inhibiting apoptosis. Elevated levels of this protein is linked to POEMS syndrome, also known as Crow-Fukase syndrome. Mutations in this gene have been associated with proliferative and nonproliferative diabetic retinopathy. Alternatively spliced transcript variants, encoding either freely secreted or cell-associated isoforms, have been characterized. There is also evidence for the use of non-AUG (CUG) translation initiation sites upstream of, and in-frame with the first AUG, leading to additional isoforms. [provided by RefSeq, Jul 2008] 6 6 6 p12 45289570 45305849 + 43737946 43754224 + 43770209 43786487 + 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7422 A2A2V4;H0YBI8;H0YBZ0;H3BLW8;J3KPA4;P15692 AB021221;AB209485;AB451322;AB451451;ABBA01050660;AF022375;AF024710;AF062645;AF091352;AF095785;AF214570;AF323587;AF430806;AF437895;AF486837;AJ010438;AK056914;AK125666;AL136131;AMYH02013650;AY047581;AY263145;AY500353;AY766116;BC011177;BC019867;BC058855;BC065522;BF700556;BM661679;BQ880667;BU153227;BX442364;CH471081;CN256173;CQ858312;CS067226;CS172363;CS172373;CS367293;CS367438;CX756573;DA237741;DQ229900;HC040683;HC040693;HY066915;M27281;M32977;M63978;NG_008732;NM_001025366;NM_001025367;NM_001025368;NM_001025369;NM_001025370;NM_001033756;NM_001171622;NM_001171623;NM_001171624;NM_001171625;NM_001171626;NM_001171627;NM_001171628;NM_001171629;NM_001171630;NM_001204384;NM_001204385;NM_001287044;NM_003376;S85192;X62568 AAA35789;AAA36804;AAA36807;AAC16730;AAC63102;AAC63143;AAD04918;AAD55345;AAF19659;AAH11177;AAH65522;AAI72307;AAK95847;AAL27435;AAL27630;AAM03108;AAP86646;AAQ14857;AAV34601;ABB58912;ACE87825;ACT64542;BAA78418;BAD92722;BAG70136;BAG70265;CAA09179;CAA44447;CAH23417;CAI84576;CAJ32889;CAJ33665;CAL32723;CAL33850;CBH30534;CBH30539;EAX04227;EAX04228;EAX04229;EAX04230;EAX04231;EAX04232;EAX04233;EAX04234;EAX04235;NP_001020537;NP_001020538;NP_001020539;NP_001020540;NP_001020541;NP_001028928;NP_001165093;NP_001165094;NP_001165095;NP_001165096;NP_001165097;NP_001165098;NP_001165099;NP_001165100;NP_001165101;NP_001191313;NP_001191314;NP_001273973;NP_003367;P15692 Hs.73793 1695882;1755927;1769920;1793678;1793680;1797032;2131773;2141234;2148351;2183188;2189763;5117572 D2Wox60;D6S2083;GDB:580706;PMC25276P1;PMC25276P2;RH16204;RH46691;SHGC-142757;SHGC-32834;SHGC-78839;STS-M32977;VEGF_1127 MGC70609;MVCD1;VEGF;VEGF-A;VPF OTTHUMP00000016487;OTTHUMP00000016488;OTTHUMP00000165985;OTTHUMP00000165986;OTTHUMP00000165987;OTTHUMP00000224107;OTTHUMP00000224108;OTTHUMP00000224109;OTTHUMP00000224153;OTTHUMP00000224154;OTTHUMP00000224423;OTTHUMP00000224424;OTTHUMP00000224425;OTTHUMP00000224426;OTTHUMP00000224427;OTTHUMP00000224428;OTTHUMP00000224429;OTTHUMP00000224430;vascular endothelial growth factor;vascular permeability factor APPROVED protein-coding ENSG00000112715 HGNC:12680 01889 192240 REVIEWED 2923050 VN1R15P vomeronasal 1 receptor 15 pseudogene 1 1 1 q42.13 201038750 201039313 + 227846868 227847431 + 227659167 227659730 + 19952141 100312804 ABBA01009609;AL592310;AMYH02002829;NG_015662 1686250;1698152 RH102609;RH80566 pseudo HGNC:37327 INFERRED 2923055 VN1R16P vomeronasal 1 receptor 16 pseudogene 1 1 1 q44 220639744 220640658 + 247343351 247344265 + 247180049 247180963 + 19952141 100312805 ABBA01031782;AL390728;AMYH02003132;NG_015663 2131716 D1S3136 pseudo HGNC:37330 INFERRED 2923013 VN1R19P vomeronasal 1 receptor 19 pseudogene 2 2 2 q21.2 126586216 126586631 + 132866163 132866578 + 132108590 132109005 + 19952141 100312843 ABBA01028224;AC098826;AMYH02004813;NG_015701 pseudo HGNC:37328 INFERRED 2946911 VN1R20P vomeronasal 1 receptor 20 pseudogene 3 3 3 p25.1 13906666 13907565 + 13968358 13969257 + 13926861 13927760 + 19952141 100312775 ABBA01025163;AC069462;AC090884;AMYH02006316;NG_015633 pseudo HGNC:37335 INFERRED 1353808 VN1R2 vomeronasal 1 receptor 2 ENCODES a protein that exhibits pheromone receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); response to pheromone (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH cadmium dichloride; dimethyl sulfoxide; 17beta-estradiol (ortholog) 19 19 19 q13.42 50803443 50804753 + 53761545 53762855 + 53258292 53259602 + 1580863;6480464;8554872 12044878;12123587;12477932;12826614;19952141 317701 Q8NFZ6 AB083607;ABBA01068218;AC092070;AF370359;AMYH02036423;AY312480;AY312481;AY312482;BC130356;BC130358;CH471135;CS248074;NM_173856 AAI30357;AAI30359;AAM83034;AAP85615;AAP85616;AAP85617;ADR82959;BAB89320;CAJ56564;EAW72126;NP_776255;Q8NFZ6 Hs.553684 5492845;5493729 UniSTS:483021;UniSTS:494436 V1RL2 G-protein coupled receptor GPCR25;V1R-like 2;V1r-like receptor 2;hGPCR25;pheromone receptor;vomeronasal type-1 receptor 2 protein-coding ENSG00000196131 HGNC:19872 18286 VALIDATED 2923012 VN1R22P vomeronasal 1 receptor 22 pseudogene 4 4 4 q25 105355717 105356115 + 108056814 108057212 + 107135657 107136055 + 19952141 100312844 ABBA01063748;AMYH02009869;AP001819;NG_015702 pseudo HGNC:37337 INFERRED 2946903 VN1R24P vomeronasal 1 receptor 24 pseudogene 7 7 7 p11.2 67675033 67675291 - 56568578 56568836 - 56500885 56501143 - 19952141 100312781 ABBA01061872;AC092447;AMYH02015759;NG_015639 pseudo HGNC:37344 INFERRED 2946908 VN1R25P vomeronasal 1 receptor 25 pseudogene 7 7 7 p11.2 67733225 67734136 + 56626806 56627717 + 56559113 56560024 + 19952141 100312782 ABBA01061873;AC092447;AMYH02015759;NG_015640 pseudo HGNC:37345 INFERRED 3378732 VN1R17P vomeronasal 1 receptor 17 pseudogene ENCODES a protein that exhibits pheromone receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); response to pheromone (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH tunicamycin (ortholog) 1 1 1 q44 220696893 220697519 - 247400526 247401152 - 247237224 247237850 - 6480464 12044878;16620963;19952141 441931 Q8TDU5 AB083605;ABBA01031783;AC104335;AMYH02003132;NG_011997 BAB89318;Q8TDU5 GPCR pseudo HGNC:37331 INFERRED 2946899 VN1R28P vomeronasal 1 receptor 28 pseudogene 7 7 7 p11.2 56207055 56207973 - 57482489 57483407 - 57422785 57423703 - 19952141 100312785 ABBA01028302;AC073057;AC237221;AMYH02015779;NG_015643 pseudo HGNC:37348 INFERRED 2946901 VN1R29P vomeronasal 1 receptor 29 pseudogene 7 7 7 p11.2 56260912 56261782 + 57536328 57537198 + 57476622 57477492 + 19952141 100312786 ABBA01028304;AC092175;AMYH02015779;NG_015644 pseudo HGNC:37349 INFERRED 3254955 VN1R18P vomeronasal 1 receptor 18 pseudogene 2 2 2 p16.3 48056559 48057495 + 48216764 48217700 + 47989625 47990561 + 19952141 100133087 ABBA01075182;AC092650;AMYH02003770;NG_014058 pseudo HGNC:37334 INFERRED 1313180 VN1R3 vomeronasal 1 receptor 3 (gene/pseudogene) ENCODES a protein that exhibits pheromone receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); response to pheromone (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH (+)-catechin; disodium selenite 16 16 16 p11.2 28488651 28489907 + 31818911 31820167 - 31807590 31808846 - 1580863;6480464 12123587;12477932;12826614;19952141 317702 Q9BXE9 ABBA01042102;AC002519;AF336873;AMYH02031856;BC107073;BC107074;CH471192;NG_005664 AAK21299;EAW52107;Q9BXE9 Hs.257746 5493075 UniSTS:484170 FKSG46;MGC129709;MGC129710;V1RL3;V1RL3p APPROVED pseudo HGNC:19867 INFERRED 3028785 VN1R30P vomeronasal 1 receptor 30 pseudogene 7 7 7 q11.21 59672985 59673877 - 62806218 62807110 + 63345840 63346732 + 19952141 100287919 ABBA01018529;AC006455;AMYH02015822;NG_014072 pseudo HGNC:37350 INFERRED 2946900 VN1R31P vomeronasal 1 receptor 31 pseudogene 7 7 7 q11.21 59651533 59652375 + 62827703 62828545 - 63367325 63368167 - 19952141 100312787 ABBA01018529;AC073188;AMYH02015826;NG_015645 pseudo HGNC:37351 INFERRED 2946898 VN1R32P vomeronasal 1 receptor 32 pseudogene 7 7 7 q11.21 59641451 59642367 - 62837711 62838627 + 63377333 63378249 + 19952141 100312788 ABBA01018529;AC073188;AMYH02015826;NG_015646 pseudo HGNC:37352 INFERRED 3003944 VN1R33P vomeronasal 1 receptor 33 pseudogene 7 7 7 q11.21 59672985 59673877 - 62861757 62862649 - 63401379 63402271 - 19952141 100288022 ABBA01018529;AC073188;NG_015943 pseudo HGNC:37353 INFERRED 3254956 VN1R34P vomeronasal 1 receptor 34 pseudogene 7 7 7 q11.21 57113678 57114545 - 63394842 63395709 - 63934464 63935331 - 19952141 100129587 ABBA01027968;AC092634;AMYH02015847;NG_014051 pseudo HGNC:37354 INFERRED 2946896 VN1R35P vomeronasal 1 receptor 35 pseudogene 7 7 7 q11.21 57142645 57143306 - 63423809 63424470 - 63963431 63964092 - 19952141 100312789 ABBA01027969;AC092634;AMYH02015847;NG_015647 pseudo HGNC:37355 INFERRED 2946897 VN1R36P vomeronasal 1 receptor 36 pseudogene 7 7 7 q11.21 57144992 57145362 - 63426156 63426526 - 63965778 63966148 - 19952141 100312790 ABBA01027969;AC092634;AMYH02015847;NG_015648 1753125 SHGC-68733 pseudo HGNC:37356 INFERRED 2946902 VN1R27P vomeronasal 1 receptor 27 pseudogene 7 7 7 p11.2 55947628 55948001 - 57227866 57228239 - 57160159 57160532 - 19952141 100312784 ABBA01028298;AC099654;AMYH02015776;NG_015642 pseudo HGNC:37347 INFERRED 1347041 VN1R4 vomeronasal 1 receptor 4 ENCODES a protein that exhibits pheromone receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); response to pheromone (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH arsenite(3-); benzo[a]pyrene; 17beta-estradiol (ortholog) 19 19 19 q13.42 50811899 50812804 - 53770013 53770918 - 53266760 53267665 - 6480464 12044878;12123587;12477932;12826614;15489334;18029348;19952141 317703 Q7Z5H5 AB083609;ABBA01068217;AC092070;AMYH02036423;AY114733;AY312485;AY312486;AY312487;AY312488;BC104935;BC104939;CS248620;NM_173857 AAI04936;AAI04940;AAM66754;AAP85618;AAP85619;AAP85620;AAP85621;BAB89322;CAJ56825;NP_776256;Q7Z5H5 Hs.553685 1334956;5493283 D19S921;UniSTS:485589 V1RL4 G-protein coupled receptor GPCR27;V1R-like 4;V1r-like receptor 4;hGPCR27;pheromone receptor;vomeronasal type-1 receptor 4 protein-coding ENSG00000228567 HGNC:19871 18287 VALIDATED 2837778 VN1R37P vomeronasal 1 receptor 37 pseudogene 7 7 7 q11.21 57329113 57330023 - 63609997 63610907 - 64149619 64150529 - 19952141 402273 ABBA01027974;AC091685;AMYH02015848;NG_013382 1339523;1644798;7187810 D7S2530;GDB:3754411 pseudo HGNC:37357 INFERRED 2946895 VN1R39P vomeronasal 1 receptor 39 pseudogene 7 7 7 q11.21 57453586 57454037 + 63733916 63734367 + 64273538 64273989 + 19952141 100312791 ABBA01027976;AC073270;AMYH02015848;NG_015649 pseudo HGNC:37359 INFERRED 2923011 VN1R23P vomeronasal 1 receptor 23 pseudogene 4 4 4 q25 105357050 105357345 - 108058147 108058446 - 107136990 107137289 - 19952141 100312845 ABBA01063748;AMYH02009869;AP001819;NG_015703 pseudo HGNC:37338 INFERRED 2881180 VN1R38P vomeronasal 1 receptor 38 pseudogene 7 7 7 q11.21 57359453 57360379 - 63640366 63641294 - 64179988 64180916 - 19952141 100131065 ABBA01027974;AC091685;AMYH02015848;NG_014053 pseudo HGNC:37358 INFERRED 2946894 VN1R40P vomeronasal 1 receptor 40 pseudogene 7 7 7 q11.21 57623905 57624821 - 63904138 63905054 - 64443760 64444676 - 19952141 100312792 ABBA01027977;AC022202;AMYH02015849;NG_015650 pseudo HGNC:37360 INFERRED 2946904 VN1R26P vomeronasal 1 receptor 26 pseudogene 7 7 7 p11.2 67855244 67855756 - 56748838 56749350 - 56681145 56681657 - 19952141 100312783 ABBA01061874;AC095038;AMYH02015762;NG_015641 pseudo HGNC:37346 INFERRED 2946891 VN1R41P vomeronasal 1 receptor 41 pseudogene 7 7 7 q11.21 57655704 57656309 + 63935935 63936540 + 64475557 64476162 + 19952141 100312793 ABBA01027977;AC022202;AMYH02015849;NG_015651 pseudo HGNC:37361 INFERRED 2946892 VN1R42P vomeronasal 1 receptor 42 pseudogene 7 7 7 q11.21 58112733 58113211 + 64393651 64394129 + 64933273 64933751 + 19952141 100312794 ABBA01027988;AC092161;AMYH02015860;NG_015652 2175663 GDB:1318354 pseudo HGNC:37362 INFERRED 2922958 VN1R44P vomeronasal 1 receptor 44 pseudogene 7 7 114858 115287 - 114858 115287 - 19952141 100312855 AC011043;NG_015713 pseudo HGNC:37364 INFERRED 2946890 VN1R45P vomeronasal 1 receptor 45 pseudogene 8 8 8 p11.21 42019334 42019463 - 43071627 43071756 - 43216484 43216613 - 19952141 100312796 ABBA01021194;AC022616;AMYH02017915;NG_015654 pseudo HGNC:37365 INFERRED 3497434 VN1R21P vomeronasal 1 receptor 21 pseudogene 3 3 3 p25.1 14068860 14069665 - 14130553 14131358 - 14089053 14089858 - 19952141 100128368 ABBA01025161;AC090004;AMYH02006318;NG_014048 pseudo HGNC:37336 INFERRED 3516402 VN1R46P vomeronasal 1 receptor 46 pseudogene 8 8 8 p11.21 42023102 42023983 - 43075071 43075952 - 43219928 43220809 - 19952141 100131789 ABBA01021195;AC022616;AMYH02017915;NG_014057 pseudo HGNC:37366 INFERRED 2946893 VN1R43P vomeronasal 1 receptor 43 pseudogene 7 7 7 q11.21 58152364 58152671 - 64433295 64433602 - 64972917 64973224 - 19952141 100312795 ABBA01027989;AC073210;AMYH02015862;NG_015653 1654032;1680226 RH17834;SHGC-36553 pseudo HGNC:37363 INFERRED 2946887 VN1R47P vomeronasal 1 receptor 47 pseudogene 9 9 9 p13.3 33442598 33442781 - 33512524 33512707 - 33512526 33512709 - 19952141 100312797 ABBA01065049;AL139008;AMYH02019423;NG_015655 pseudo HGNC:37367 INFERRED 2946888 VN1R48P vomeronasal 1 receptor 48 pseudogene 9 9 9 p13.1 38437433 38438369 - 38504498 38505434 - 38504501 38505437 - 19952141 100312798 ABBA01050379;AL390726;AMYH02019511;NG_015656 pseudo HGNC:37368 INFERRED 2946889 VN1R49P vomeronasal 1 receptor 49 pseudogene 9 9 q13 66669094 66669628 + 64839539 64840073 + 19952141 100312799 ABBA01193644;AL359955;AL954185;FP325315;NG_015657 VN1R50P pseudo HGNC:37369 INFERRED 2923054 VN1R51P vomeronasal 1 receptor 51 pseudogene 9 9 9 q22.33 70370300 70371202 - 99856018 99856920 - 97093736 97094638 - 19952141 100312801 ABBA01042939;AL445670;AMYH02021304;NG_015659 pseudo HGNC:37371 INFERRED 1352631 VN1R5 vomeronasal 1 receptor 5 (gene/pseudogene) ENCODES a protein that exhibits pheromone receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); response to pheromone (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 1 1 1 q44 220715747 220716820 + 247419374 247420447 + 247256072 247257145 + 6480464 12044878;12123587;12477932;12826614;15489334;19952141 317705 Q7Z5H4 AB083608;ABBA01031783;AC104335;AMYH02003132;AY114735;AY312489;AY312491;BC126341;BC126367;CH471148;NM_173858 AAI26342;AAI26368;AAM66756;AAP85622;AAP85623;BAB89321;EAW77177;NP_776257;Q7Z5H4 Hs.553686 5493081;5493807 UniSTS:484163;UniSTS:494906 V1RL5 G-protein coupled receptor GPCR26;V1R-like 5;V1r-like receptor 5;hGPCR26;pheromone receptor;vomeronasal type-1 receptor 5 APPROVED protein-coding HGNC:19870 18288 VALIDATED 2923053 VN1R50P vomeronasal 1 receptor 50 pseudogene 9 q21.11 69851957 69852491 + 19952141 100312800 AL359955;NG_015658 pseudo HGNC:37370 INFERRED 2923049 VN1R54P vomeronasal 1 receptor 54 pseudogene 10 10 10 q11.21 39159677 39160563 + 43156292 43157178 + 42660844 42661730 + 19952141 100312807 ABBA01049992;AL022344;AMYH02022702;NG_015665 pseudo HGNC:37374 INFERRED 2923051 VN1R53P vomeronasal 1 receptor 53 pseudogene 10 10 10 p11.21 37408321 37409172 + 37637544 37638396 + 37348616 37349468 + 19952141 100312806 ABBA01033303;AL157387;AMYH02022654;NG_015664 pseudo HGNC:37373 INFERRED 2923046 VN1R57P vomeronasal 1 receptor 57 pseudogene 12 12 12 q21.31 81929921 81930651 + 82262147 82262877 + 81868368 81869098 + 19952141 100312809 ABBA01053480;AC091515;AMYH02026844;NG_015667 pseudo HGNC:37377 INFERRED 2923048 VN1R55P vomeronasal 1 receptor 55 pseudogene 10 10 10 q23.31 83765186 83765932 - 90018314 90019060 - 88258557 88259303 - 19952141 100312808 ABBA01021956;AL353149;AMYH02023502;NG_015666 pseudo HGNC:37375 INFERRED 2946905 VN1R56P vomeronasal 1 receptor 56 pseudogene 11 11 11 p15.4 3359947 3360390 - 3370404 3370847 - 3349174 3349617 - 19952141 100312774 ABBA01032065;AC123788;AMYH02024222;NG_015632 pseudo HGNC:37376 INFERRED 2923047 VN1R58P vomeronasal 1 receptor 58 pseudogene 13 13 q11 19037570 19038043 - 18463430 18463903 - 19952141 100312810 AL138715;AMYH02027600;NG_015668 pseudo HGNC:37378 INFERRED 2923045 VN1R59P vomeronasal 1 receptor 59 pseudogene 14 14 14 q23.1 41061247 41061609 + 61011112 61011474 + 60544394 60544756 + 19952141 100312811 ABBA01018282;AL049874;AMYH02029296;NG_015669 pseudo HGNC:37379 INFERRED 2923044 VN1R60P vomeronasal 1 receptor 60 pseudogene 15 15 15 q11.2 1552 2050 + 21095446 21095944 - 20890117 20890615 - 19952141 100312812 ABBA01177140;AC012414;NG_015670 1700614 RH103929 pseudo HGNC:37380 INFERRED 2923043 VN1R61P vomeronasal 1 receptor 61 pseudogene 15 15 q11.2 21098436 21099291 - 20893107 20893962 - 19952141 100312813 ABBA01177140;AC037471;NG_015671 pseudo HGNC:37381 INFERRED 2923040 VN1R62P vomeronasal 1 receptor 62 pseudogene 15 15 q11.2 22106621 22107119 - 21901097 21901595 - 19952141 100312814 AC183089;NG_015672 1700614 RH103929 pseudo HGNC:37382 INFERRED 2923041 VN1R63P vomeronasal 1 receptor 63 pseudogene 15 15 15 q11.2 1461 2316 - 22109611 22110466 - 21904087 21904942 - 19952141 100312815 AC183089;AMYH02030012;NG_015673 pseudo HGNC:37383 INFERRED 2923056 VN1R52P vomeronasal 1 receptor 52 pseudogene 9 9 9 q22.33 70511842 70512027 + 99997550 99997735 + 97235268 97235453 + 19952141 100312802 ABBA01042936;AL590705;AMYH02021305;NG_015660 pseudo HGNC:37372 INFERRED 3539537 VN1R68P vomeronasal 1 receptor 68 pseudogene 6 16 16 p11.2 66737521 66738341 - 34352543 34353363 - 35118172 35118992 - 19952141 100131688 ABBA01002118;AC023824;AC092133;AMYH02031950;NG_014056 pseudo HGNC:37389 INFERRED 1349927 VN1R6P vomeronasal 1 receptor 6 pseudogene 19 19 19 q13.42 50860015 50861067 + 53818331 53819385 + 53315078 53316132 + 653753 ABBA01068217;AC010467;AMYH02036424;NG_012999 1334956 D19S921 VNR19I2;ZVNH2;ZVNR2 pseudo HGNC:13712 INFERRED 3129620 VN1R70P vomeronasal 1 receptor 70 pseudogene 6 16 16 p11.1 67455931 67456870 + 35071223 35072162 + 35836852 35837791 + 19952141 100130059 ABBA01002109;AC106785;AMYH02031961;NG_014052 pseudo HGNC:37391 INFERRED 2923038 VN1R71P vomeronasal 1 receptor 71 pseudogene 17 17 17 q11.1 22249872 22250819 + 25384424 25385371 + 27057398 27058345 + 19952141 100312817 ABBA01015073;AC069061;AMYH02033205;NG_015675 pseudo HGNC:37392 INFERRED 3102884 VN1R64P vomeronasal 1 receptor 64 pseudogene 16 16 16 p11.2 28749701 28750633 - 31558126 31559058 + 31546805 31547737 + 19952141 730196 ABBA01042096;AC106730;AMYH02031854;NG_013422 pseudo HGNC:37384 INFERRED 2859190 VN1R67P vomeronasal 1 receptor 67 pseudogene 16 16 16 p11.2 28495016 28495891 + 31812927 31813802 - 31801606 31802481 - 19952141 100131118 ABBA01042102;AC002519;AMYH02031856;NG_014054 pseudo HGNC:37387 INFERRED 2922960 VN1R72P vomeronasal 1 receptor 72 pseudogene 19952141 100312853 AC011841;AC241542;NG_015711 pseudo HGNC:37393 INFERRED 3497433 VN1R65P vomeronasal 1 receptor 65 pseudogene 16 16 16 p11.2 28742511 28743385 - 31565374 31566248 + 31554053 31554927 + 19952141 100128384 ABBA01042096;ABBA01042097;AC106730;AMYH02031854;NG_014049 1688566;1720529 G59218;RH99239 pseudo HGNC:37385 INFERRED 3302175 VN1R66P vomeronasal 1 receptor 66 pseudogene 16 16 16 p11.2 28648251 28649164 - 31659639 31660552 + 31648318 31649231 + 19952141 100129315 ABBA01042101;AC106730;AMYH02031854;NG_014050 pseudo HGNC:37386 INFERRED 2923035 VN1R73P vomeronasal 1 receptor 73 pseudogene 18 18 18 p11.21 13957413 13957913 - 14075239 14075739 - 14075240 14075740 - 19952141 100312818 ABBA01074043;AC006557;AMYH02034357;NG_015676 7187967 D18S360E pseudo HGNC:37394 INFERRED 2923034 VN1R74P vomeronasal 1 receptor 74 pseudogene 18 18 18 p11.21 6400 7316 + 14680405 14681321 - 14680406 14681322 - 19952141 100312819 ABBA01074081;AMYH02034359;AP006564;NG_015677 pseudo HGNC:37395 INFERRED 2923037 VN1R75P vomeronasal 1 receptor 75 pseudogene 18 18 p11.21 15276414 15276887 + 15276415 15276888 + 19952141 100312820 AMYH02034362;AP005901;NG_015678 pseudo HGNC:37396 INFERRED 2923042 VN1R69P vomeronasal 1 receptor 69 pseudogene 6 16 16 p11.2 66753773 66754731 + 34368836 34369794 + 35134465 35135423 + 19952141 100312816 ABBA01002118;AC023824;AMYH02031951;NG_015674 pseudo HGNC:37390 INFERRED 2923032 VN1R76P vomeronasal 1 receptor 76 pseudogene 18 18 18 q21.2 46801372 46801868 - 49945527 49946023 - 52419157 52419653 - 19952141 100312821 ABBA01018698;AC011155;AMYH02034729;NG_015679 pseudo HGNC:37397 INFERRED 2923031 VN1R79P vomeronasal 1 receptor 79 pseudogene 19 19 19 p12 20775710 20776384 + 20941270 20941944 + 20758464 20759138 + 19952141 100312824 ABBA01051359;AC010329;AMYH02035794;NG_015682 pseudo HGNC:37400 INFERRED 2923030 VN1R78P vomeronasal 1 receptor 78 pseudogene 19 19 19 p12 20600148 20600865 - 20765736 20766453 - 20582930 20583647 - 19952141 100312823 ABBA01051357;AC010636;AMYH02035790;NG_015681 pseudo HGNC:37399 INFERRED 2923033 VN1R77P vomeronasal 1 receptor 77 pseudogene 19 19 19 p12 19995492 19995811 - 20090100 20090419 - 19979291 19979610 - 19952141 100312822 ABBA01051344;AC007204;AMYH02035773;NG_015680 pseudo HGNC:37398 INFERRED 1349341 VN1R7P vomeronasal 1 receptor 7 pseudogene 21 21 p11.2 11153077 11154804 - 10357653 10359380 + 10830953;11116092 100132759 AF253314;AF254983;AMYH02037510;AP003900;NG_002218 1730841;1737415;1772188;2143973 D13S989;D21S383;D22S1110;DXS7321 ORLP1;PHB4C5 pseudo HGNC:8496 INFERRED 2923027 VN1R82P vomeronasal 1 receptor 82 pseudogene 19 19 19 p12 21206280 21206832 + 21371343 21371895 + 21188540 21189092 + 19952141 100312827 ABBA01051370;AC010620;AMYH02035800;NG_015685 pseudo HGNC:37402 INFERRED 2923039 VN1R81P vomeronasal 1 receptor 81 pseudogene 19 19 19 p12 21141589 21142304 + 21306620 21307335 + 21123817 21124532 + 19952141 100312826 ABBA01051368;AC010620;AMYH02035799;NG_015684 pseudo HGNC:37401 INFERRED 2923036 VN1R80P vomeronasal 1 receptor 80 pseudogene 19 19 19 p12 21081687 21082024 + 21246730 21247067 + 21063924 21064261 + 19952141 100312825 ABBA01051365;AC012627;AMYH02035798;NG_015683 pseudo HGNC:37329 INFERRED 2923028 VN1R83P vomeronasal 1 receptor 83 pseudogene 19 19 19 p12 21307287 21307729 - 21472356 21472800 - 21289554 21289998 - 19952141 100312828 ABBA01051370;AC022432;AMYH02035802;NG_015686 pseudo HGNC:37403 INFERRED 2923029 VN1R84P vomeronasal 1 receptor 84 pseudogene 19 19 19 p12 21737223 21737736 - 21902429 21902942 - 21719627 21720140 - 19952141 100312829 ABBA01032165;AC092364;AMYH02035808;NG_015687 pseudo HGNC:37404 INFERRED 2923026 VN1R85P vomeronasal 1 receptor 85 pseudogene 19 19 19 p12 22189818 22190243 - 22357568 22357993 - 22174766 22175191 - 19952141 100312830 ABBA01051403;AC073539;AMYH02035819;NG_015688 pseudo HGNC:37405 INFERRED 2923024 VN1R87P vomeronasal 1 receptor 87 pseudogene 19 19 19 p12 22759993 22760479 - 22925726 22926212 - 22742924 22743410 - 19952141 100312832 ABBA01051416;AC024563;AMYH02035829;NG_015690 pseudo HGNC:37407 INFERRED 2923025 VN1R86P vomeronasal 1 receptor 86 pseudogene 19 19 19 p12 22491321 22491629 + 22659308 22659616 + 22476506 22476814 + 19952141 100312831 ABBA01051411;AC004004;AMYH02035824;NG_015689 pseudo HGNC:37406 INFERRED 2923023 VN1R88P vomeronasal 1 receptor 88 pseudogene 19 19 19 p12 22878042 22878443 + 23044007 23044408 + 22861205 22861606 + 19952141 100312833 ABBA01051421;AC022145;AMYH02035832;NG_015691 pseudo HGNC:37408 INFERRED 2923022 VN1R89P vomeronasal 1 receptor 89 pseudogene 19 19 19 p12 22984845 22985239 - 23153324 23153718 - 22970522 22970916 - 19952141 100312834 ABBA01051424;AC022145;AMYH02035832;NG_015692 pseudo HGNC:37409 INFERRED 2923021 VN1R90P vomeronasal 1 receptor 90 pseudogene 19 19 19 p12 23302914 23303658 + 23471416 23472160 + 23288614 23289358 + 19952141 100312835 ABBA01051430;AC010300;AMYH02035837;NG_015693 pseudo HGNC:37410 INFERRED 2923020 VN1R91P vomeronasal 1 receptor 91 pseudogene 19 19 19 p12 23304389 23305277 + 23472931 23473819 + 23290129 23291017 + 19952141 100312836 ABBA01051430;AC010300;AMYH02035837;NG_015694 pseudo HGNC:37411 INFERRED 2923019 VN1R92P vomeronasal 1 receptor 92 pseudogene 19 19 19 p12 23461445 23462346 + 23627090 23627991 + 23444288 23445189 + 19952141 100312837 ABBA01051432;AC022409;AMYH02035840;NG_015695 pseudo HGNC:37412 INFERRED 2923018 VN1R93P vomeronasal 1 receptor 93 pseudogene 19 19 19 p12 23621968 23622520 + 23785369 23785921 + 23602567 23603119 + 19952141 100312838 ABBA01051435;AC073544;AMYH02035842;NG_015696 pseudo HGNC:37413 INFERRED 2923016 VN1R97P vomeronasal 1 receptor 97 pseudogene 19 19 19 q13.33 45620250 45620597 + 48755012 48755359 + 48251755 48252102 + 19952141 100312840 ABBA01033008;AC008392;AMYH02036289;NG_015698;NG_029574 pseudo HGNC:37417 INFERRED 2923017 VN1R94P vomeronasal 1 receptor 94 pseudogene 19 19 19 p12 23760400 23760713 - 23922404 23922717 - 23739602 23739915 - 19952141 100312839 ABBA01051443;AC073544;AMYH02035843;NG_015697 pseudo HGNC:37414 INFERRED 2923014 VN1R99P vomeronasal 1 receptor 99 pseudogene 19 19 19 q13.41 49794536 49795278 - 52744982 52745724 - 52241729 52242471 - 19952141 100312842 ABBA01068260;AC010320;AMYH02036397;NG_015700 pseudo HGNC:37419 INFERRED 1344481 VN1R9P vomeronasal 1 receptor 9 pseudogene 22 22 22 q11.1 1124517 1125432 - 17502245 17503160 - 17021355 17022270 - 19952141 317691 ABBA01001460;AC006548;AMYH02037984;NG_015792 VN1R22-1P pseudo HGNC:20257 INFERRED 1625461 VN2R10P vomeronasal 2 receptor 10 pseudogene 16 16 16 q23.1 61551827 61552697 + 77254291 77255161 + 77220394 77221264 + 100033398 ABBA01017037;AC009139;AMYH02032426;NG_006059 pseudo HGNC:33216 INFERRED 2923015 VN1R98P vomeronasal 1 receptor 98 pseudogene 19 19 19 q13.41 49409511 49409822 - 52359953 52360264 - 51856700 51857011 - 19952141 100312841 ABBA01068262;AC006272;AMYH02036393;NG_015699 1686384;1696908;1789138 G65705;RH101921;RH79636 pseudo HGNC:37418 INFERRED 1349116 VN1R8P vomeronasal 1 receptor 8 pseudogene 21 21 21 q11 166988 168037 + 14848562 14849776 + 13476241 13477455 + 10830953;19952141 54041 AL050302;AL078475;AMYH02037513;NG_002647 ORLP2 pseudo HGNC:8497 INFERRED 1625459 VN2R12P vomeronasal 2 receptor 12 pseudogene 19 19 19 p13.2 11625883 11626205 - 11731717 11732039 - 11620902 11621224 - 100033400 ABBA01029830;AC104527;AMYH02035533;NG_006061 pseudo HGNC:33218 INFERRED 1625460 VN2R11P vomeronasal 2 receptor 11 pseudogene 19 19 19 p13.3 532027 532716 - 279554 280243 + 279554 280243 + 100033399 ABBA01002551;AC016588;AMYH02035102;NG_006060 pseudo HGNC:33217 INFERRED 1625458 VN2R13P vomeronasal 2 receptor 13 pseudogene 19 19 19 p13.2 11841621 11841856 - 11947251 11947486 - 11836436 11836671 - 100033401 ABBA01029823;AC008543;AMYH02035539;NG_006062 pseudo HGNC:33219 INFERRED 1625457 VN2R14P vomeronasal 2 receptor 14 pseudogene 19 19 19 p13.2 11876811 11877045 - 11982437 11982671 - 11871622 11871856 - 100033402 ABBA01029822;AC008770;AMYH02035539;NG_006063 pseudo HGNC:33220 INFERRED 2291771 VN2R15P vomeronasal 2 receptor 15 pseudogene 19 19 19 p13.2 11920515 11920750 - 12026141 12026376 - 11915326 11915561 - 100033403 ABBA01029821;AC008770;AMYH02035539;NG_007173 pseudo HGNC:33221 INFERRED 1625841 VN2R16P vomeronasal 2 receptor 16 pseudogene 19 19 19 p13.2 12608370 12608516 - 12718646 12718792 - 12607832 12607978 - 100033404 ABBA01029788;AC010422;AMYH02035550;NG_006108 pseudo HGNC:33222 INFERRED 2859164 VN1R95P vomeronasal 1 receptor 95 pseudogene 19 19 19 q11 24994716 24995567 + 28294449 28295300 + 27803541 27804392 + 19952141 100131141 ABBA01039519;AC006504;AMYH02035858;NG_014055 1340055;1675361;1688052;1693728;1703248;1777693 D19S419;RH18236;RH92307;SGC32471;SGC33806;SHGC-58650 pseudo HGNC:37415 INFERRED 1625095 VN2R17P vomeronasal 2 receptor 17 pseudogene 19 19 19 q13.43 53871756 53872358 - 56828652 56829254 - 56317283 56317885 - 649186 Q8NGA3 AB065923;ABBA01020837;AC006116;AMYH02036490;NG_006107 BAC06138 pseudo HGNC:33223 INFERRED 2802020 VN1R96P vomeronasal 1 receptor 96 pseudogene 19 19 19 q13.2 37425597 37426504 - 40627230 40628137 - 40121323 40122230 - 19952141 100127969 ABBA01040740;AC011496;AC245507;NG_014047 1335172 D19S552 pseudo HGNC:37416 INFERRED 2291770 VN2R18P vomeronasal 2 receptor 18 pseudogene 19 19 19 q13.43 53892698 53893385 - 56849587 56850274 - 56338218 56338905 - 17382427 100033406 ABBA01020837;AC006116;AMYH02036491;NG_007172 pseudo HGNC:33224 INFERRED 1625456 VN2R19P vomeronasal 2 receptor 19 pseudogene 19 19 19 q13.43 55567436 55568280 - 58523954 58524798 - 58012586 58013430 - 100033407 ABBA01020788;AC008969;AMYH02036525;NG_006064 pseudo HGNC:33225 INFERRED 1606395 VN2R1P vomeronasal 2 receptor 1 pseudogene 3 3 3 q25.31 154158192 154177362 + 155751371 155755436 + 156033582 156037647 + 6480464 12044878 344760 Q8TDU1 AB065664;AB083610;ABBA01058844;ABBA01058845;AC067721;AMYH02007968;NG_006066 BAB89323;BAC05890 1700506;1856700 RH103874;SHGC-53910 CASRL1;GPRC2B pseudo HGNC:30344 INFERRED 1625468 VN2R2P vomeronasal 2 receptor 2 pseudogene 5 5 5 q35.3 173716500 173717185 + 178089169 178089854 + 178662168 178662853 + 100033391 ABBA01010004;AC022096;AMYH02012866;NG_006052 pseudo HGNC:33208 INFERRED 2291769 VN2R21P vomeronasal 2 receptor 21 pseudogene 19 19 19 p13.2 11958381 11958666 - 12064004 12064289 - 11953189 11953474 - 100127050 ABBA01029818;AC008770;AMYH02035539;NG_007174 1778054;2122593 D19S1118;STS-AA035593 pseudo HGNC:33938 INFERRED 1625455 VN2R20P vomeronasal 2 receptor 20 pseudogene 21 21 21 q21.2 10464569 10464799 + 25282442 25282672 + 23910126 23910356 + 100033408 ABBA01057193;AMYH02037635;AP000474;NG_006065 pseudo HGNC:33226 INFERRED 1625466 VN2R4P vomeronasal 2 receptor 4 pseudogene 9 p13.1 40063114 40076067 - 100033393 AL353791;NG_006054 pseudo HGNC:33210 INFERRED 1625467 VN2R3P vomeronasal 2 receptor 3 pseudogene 9 9 9 p13.1 5570 6009 - 39026653 39039601 + 39026656 39039604 + 100033392 AC025861;AL353729;AL353791;AL592525;AMYH02019533;NG_006053 VN2R4P;VN2R5P;VN2R8P pseudo HGNC:33209 INFERRED 1625464 VN2R6P vomeronasal 2 receptor 6 pseudogene 9 9 p11.1 47253859 47264888 + 41848318 41859347 + 100033395 AL953854;FP700058;NG_006056 pseudo HGNC:33212 INFERRED 1625462 VN2R8P vomeronasal 2 receptor 8 pseudogene 100033397 AC025861;NG_006058 pseudo HGNC:33214 1625463 VN2R7P vomeronasal 2 receptor 7 pseudogene 9 9 9 q12 5491 6009 - 65696613 65707642 - 67328114 67339143 - 100033396 BX005195;FP325309;NG_006057 pseudo HGNC:33213 INFERRED 1625465 VN2R5P vomeronasal 2 receptor 5 pseudogene 9 p12 40371834 40384803 - 100033394 AC025861;AL592525;NG_006055 VN2R8P pseudo HGNC:33211 INFERRED 1604409 VN2R9P vomeronasal 2 receptor 9 pseudogene 11 11 11 q12.1 55165301 55191412 - 57808240 57834431 - 58040768 58066959 - 12477932 648315 ABBA01021483;ABBA01021484;ABBA01021485;AMYH02024854;AMYH02024855;AMYH02024856;AMYH02024857;AP004247;BC067882;NG_005898 Hs.652053 pseudo HGNC:33215 INFERRED 1320770 VNN1 vanin 1 This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009] 6 6 6 q23-q24 133748822 133782014 - 133001997 133035194 - 132680858 132714055 - 1580863;1300048;6480464;6907045;7240710;8554872 10567687;11491533;12477932;14574404;14702039;14966568;15084671;15282320;15489334;16335952;17145956;17312006;18043751;19322213;20571492;20641033;21325602;21544065;21550219;21907259;23185446;23949622;23978960;24106341;24140347;8934567;9790769 8876 O95497 ABBA01025878;AJ132099;AK095461;AK290425;AK314265;AL032821;AMYH02014503;BC096265;BC096266;BC096267;BC096268;BJ995136;CH471051;DQ100297;NG_012147;NM_004666;U39664 AAF21453;AAH96265;AAH96266;AAH96267;AAH96268;AAY88742;BAF83114;BAG36929;CAA10568;EAW48020;NP_004657;O95497 Hs.12114;Hs.720659 5021670 VNN1 HDLCQ8;MGC116930;MGC116931;MGC116932;MGC116933;Tiff66 OTTHUMP00000017227;pantetheinase;pantetheine hydrolase;vanin-1;vannin 1;vascular non-inflammatory molecule 1 APPROVED protein-coding ENSG00000112299 HGNC:12705 04651 603570 REVIEWED 1349344 VP variegate porphyria ASSOCIATED WITH Diabetes Insipidus, Neurogenic (inferred) 7240710 HGNC:12707 125700 1353663 VNN2 vanin 2 This gene product is a member of the Vanin family of proteins that share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] 6 6 6 q23-q24 133811840 133831427 - 133065009 133084598 - 132743870 132763459 - 1580863;6480464;6907045 10201959;11200068;11491533;12056825;12477932;12749849;12777063;12967480;14574404;14748512;15489334;16335952;17543284;18095154;18805469;21666788;9790769 8875 B4DQB2;E9PK31;E9PL76;E9PLK5;E9PQ75;E9PRD9;J3KQ55;J3KQQ7;J3QT03;O95498 AB026705;AB435062;AB435063;AB435064;AB435065;ABBA01025876;ABBA01025877;AJ132100;AK290908;AK292125;AK298719;AL032821;AMYH02014503;BC064641;BC126145;BC126147;BC144064;BM153251;CH471051;D89974;DC412933;DC428640;DC428943;DQ249347;NM_001242350;NM_004665;NM_078488;NR_034173;NR_034174;NR_110143;NR_110144;NR_110145;NR_110146;XM_006715593 AAI26146;AAI26148;ABB72673;ADR83036;ADR83203;BAA82525;BAB61019;BAF83597;BAF84814;BAG30934;BAG30935;BAG30936;BAG30937;BAG60874;CAA10569;EAW48015;EAW48016;NP_001229279;NP_004656;NP_511043;O95498;XP_006715656 Hs.293130 1701554 RH104410 FOAP-4;GPI-80 GPI-80 variant protein 1;GPI-80 variant protein 2;GPI-80 variant protein 3;GPI-80 variant protein 4;OTTHUMP00000017228;OTTHUMP00000233789;OTTHUMP00000233791;Vannin 2;glycosylphosphatidyl inositol-anchored protein GPI-80;pantetheinase;vanin-2;vascular non-inflammatory molecule 2 APPROVED protein-coding ENSG00000112303 HGNC:12706 04652 603571 REVIEWED 1351839 VNN3 vanin 3 This gene is the central gene in a cluster of three vanin genes on chromosome 6q23-q24. Extensive alternative splicing has been described; the two most common variants are represented as RefSeqs. [provided by RefSeq, Apr 2014] 6 6 6 q23.2 133790754 133802735 - 133043926 133055904 - 132722787 132734765 - 1580863;6480464;8554872 10501839;11491533;12477932;14574404;16344560;18805469;19322213;19932582 55350 B2RBK8;F5GYI1;F5GYM6;H0YFQ7;Q9NY84 AA461448;AA461622;AB435052;AB435053;AB435054;AB435055;AB435056;AB435057;AB435058;AB435059;AB435060;AB435061;ABBA01025877;AJ238982;AK075110;AK314708;AL032821;AMYH02014503;BC104416;BC104417;BC113022;BC113023;BC148317;CH471051;DA670661;DQ220706;NM_001291702;NM_001291703;NR_028290;NR_028291 AAI04417;AAI04418;AAI13023;AAI13024;AAI48318;ABA60895;BAG30924;BAG30925;BAG30926;BAG30927;BAG30928;BAG30929;BAG30930;BAG30931;BAG30932;BAG30933;BAG37255;CAB76824;EAW48017;EAW48018;EAW48019;NP_001278631;NP_001278632;Q9NY84 Hs.183656 2159550;2180722 G29492;STS-H59891 HSA238982;MGC171203;PAGEL-beta;PAGEL-eta;PAGEL-zeta pantetheinase pseudogene;pantetheinase-associated gene expressed in leukocytes (PAGEL)-alpha;vanin 1 pseudogene;vanin-3;vascular non-inflammatory molecule 3 APPROVED protein-coding ENSG00000093134 HGNC:16431 09420 606592 REVIEWED 1347336 VPREB1 pre-B lymphocyte 1 The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. [provided by RefSeq, Oct 2008] 22 22 22 q11.22 6416633 6417359 + 22599200 22599926 + 22244788 22245514 + 1580863;6480464 11564802;11994467;12271131;12477932;15461802;16818733;17474147;20237496;21144590;2117639;23881307;24024966;3139558;3258819;7935499;7961773;8020565;9058786;9074928 7441 F8W8C9;P12018 ABBA01055082;AC245060;BC017922;CH471095;CR456609;D86992;D88270;M34927;NG_000002;NG_029387;NM_007128;S74019 AAA61292;AAB32118;AAI52787;BAA19987;BAA20030;CAG30495;CAK54636;CAK54935;EAW59498;NP_009059;P12018 Hs.247979 1678495 WIAF-2544 CD179a;IGI;IGVPB;VPREB CD179 antigen-like family member A;OTTHUMP00000199011;OTTHUMP00000199012;immunoglobulin iota chain;v(pre)B protein APPROVED protein-coding ENSG00000169575 HGNC:12709 05505 605141 REVIEWED 1602094 VOPP1 vesicular, overexpressed in cancer, prosurvival protein 1 ENCODES a protein that exhibits signal transducer activity; INVOLVED IN signal transduction; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasmic vesicle membrane; endosome; integral component of organelle membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-chloro-7-iodoquinolin-8-ol; benzene 7 7 7 p11.2 55641499 55692013 - 55538303 55640200 - 55470608 55572507 - 6480464;8554872 11076863;11230166;11256614;12477932;12690205;12761501;14702039;15146197;15489336;15735698;16303743;16344560;16381901;16943533;17515955;19505301;19525979;19851296;20198315;21139048;21519330;22118674;23243056;8125298 81552 C9J548;C9J827;C9JF99;C9JIM1;C9JQ18;C9JTY8;C9JVH1;F8WDC2;Q96AW1 AB097004;ABBA01011854;AC073237;AC073347;AC099681;AF395824;AK000539;AK075391;AK090825;AK092992;AK126848;AK225755;AK309288;AK314338;AK315882;AL136610;AMYH02015734;AMYH02015735;BC016650;CH236957;CH471201;CN299440;CR533483;DA814621;HY073578;HY076549;NM_001284282;NM_001284283;NM_001284284;NM_030796 AAH16650;AAK82888;BAC11590;BAC77357;BAF98773;BAG36981;BAG52634;CAB66545;CAG38514;CAL37999;EAL23811;EAW50969;EAW50970;EAW50971;EAW50972;NP_001271211;NP_001271212;NP_001271213;NP_110423;Q96AW1 Hs.488307;Hs.680358 1340525;1674691;1678707;1691234;1695544;1758883;1786488;2137713;2145587;2161697;2180119;7184009 Cda1dc11;D7S2871;D7S499;G17132;RH78018;SHGC-151050;SHGC-30962;SHGC-63593;SHGC-68707;SHGC-79617;STS-AA019598 DKFZp564K0822;ECOP;FLJ20532;GASP EGFR-coamplified and overexpressed protein;Glioblastoma-amplified secreted protein;OTTHUMP00000209214;OTTHUMP00000209217;OTTHUMP00000209218;OTTHUMP00000209221;hypothetical protein DKFZp564K0822;putative NF-kappa-B-activating protein 055N APPROVED protein-coding ENSG00000154978 HGNC:34518 08526 611915 VALIDATED 1315630 VPREB3 pre-B lymphocyte 3 The protein encoded by this gene is the human homolog of the mouse VpreB3 (8HS20) protein, and is specifically expressed in cell lines representative of all stages of B-cell differentiation. It is also related to VPREB1 and other members of the immunoglobulin supergene family. This protein associates with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. The precise function of the protein is not known, but it may contribute to mu chain transport in pre-B cells. [provided by RefSeq, Sep 2008] 22 22 22 q11.23 7934023 7935723 - 24094930 24096630 - 23752743 23754443 - 1580863;6480464 10702669;12477932;12975309;14670953;15461802;15489334;15757909;18029348;20823132;7961773;8166770 29802 A8MX21;Q9UKI3 AB050772;ABBA01055120;AF163825;AK312098;AMYH02038133;AP000348;AY359000;BC020666;BQ899182;CH471095;CR456610;NM_013378 AAF09451;AAH20666;AAQ89359;ABM84032;ABM87378;BAB83034;BAG35034;CAG30496;CAK54637;CAK54936;EAW59598;NP_037510;Q9UKI3 Hs.136713 8HS20;N27C7-2 OTTHUMP00000198415;OTTHUMP00000198416;pre-B lymphocyte gene 3;pre-B lymphocyte protein 3 APPROVED protein-coding ENSG00000128218 HGNC:12710 05426 605017 REVIEWED 1605417 VPRBP Vpr (HIV-1) binding protein ENCODES a protein that exhibits histone kinase activity (H2A-T120 specific); INVOLVED IN cell competition in a multicellular organism; histone H2A-T120 phosphorylation; negative regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Melanoma (inferred); FOUND IN COP9 signalosome; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 3 3 3 p21.2 51407652 51511665 - 51433298 51534018 - 51395867 51505611 - 6480464;8554872 11223251;12111997;12237292;12477932;14702039;15342556;15385968;16888644;16949367;17079684;17314515;17370265;17559673;17609381;17620334;17626091;17630831;17855541;18187620;18332868;18464893;18514189;18541215;18606781;18775313;18829761;18850735;19029839;19264781;19275579;19275585;19275588;19287380;19295130;19380743;19458171;19615732;19657269;19667756;19798433;19838296;19923175;20008788;20012529;20018238;20069611;20089662;20178741;20347598;20360068;20380700;20562859;20824083;20870715;21139048;21145461;21226479;21318276;21489275;21526938;21566118;21696578;21890473;21906983;21918813;21957298;21963094;21987572;21994772;22072767;22157821;22184063;22190034;22190037;22292079;22362772;22386056;22422068;22438978;22570418;22776683;22939629;22963397;23000965;23062609;23063525;23362280;23443559;23612978;23667531;23677995;23849790;24116224;24140421;24239288;24250222;24336198;24412650;24558487;24703702;24706749;24778252;24816145;24912773;24912982;25026211;8195203;9520381;9872452 9730 D6RAK9;H0Y4P3;Q9Y4B6 AB018343;ABBA01024525;ABBA01024526;ABBA01024527;ABBA01024528;ABBA01024529;ABBA01024530;ABBA01024531;AC092037;AC233756;AF061935;AF086402;AK023239;AL080145;AMYH02006783;AMYH02006784;AMYH02006785;BC022792;BC110371;BP222559;CH471055;CR986856;NM_001171904;NM_014703;XM_005276751;XM_005276752;XM_005276753;XM_005276754;XM_005276755;XM_006713426;XM_006713427;XM_006713428;XR_254197;XR_254198;XR_427298;XR_427299 AAG27134;AAH22792;AAI10372;BAA34520;BAG51173;CAB45738;EAW65140;EAW65141;EAW65142;EAW65143;NP_001165375;NP_055518;Q9Y4B6;XP_005276808;XP_005276809;XP_005276810;XP_005276811;XP_005276812;XP_006713489;XP_006713490;XP_006713491 Hs.716623 1671622;1675214;1691138;1778665;1850926;2109415;2112752 D3S2871E;D3S3947;D3S4443;HUMAGCGB_9597;RH41778;RH93354;SHGC-57673 DCAF1;KIAA0800;MGC102804 DDB1 and CUL4 associated factor 1;DDB1- and CUL4-associated factor 1;HIV-1 Vpr-binding protein;OTTHUMP00000222417;Vpr-binding protein;serine/threonine-protein kinase VPRBP;vpr-interacting protein protein-coding ENSG00000145041 HGNC:30911 11674 VALIDATED 6769546 VPS13A-AS1 VPS13A antisense RNA 1 9 9 9 q21.2 50368795 50369956 - 79791672 79792833 - 77176756 77177917 - 100286938 AA626167;ABBA01033926;AL353710;AMYH02021032;DB509755;NR_026668 Hs.662256 APPROVED ncrna ENSG00000232998 HGNC:44167 VALIDATED 1317575 VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 11 11 11 q23 116096175 116110109 + 118938493 118952688 + 119067782 119081978 + 1580863;6480464;8554872 11250079;11382755;12477932;14623309;14702039;15231747;15489334;15498874;16169070;16203730;16996030;17897319;18552835;19109425;19549727;19913121;20434987;20628086;20682791;21890473;21906983;22493164;22939629;23022380;23455924;24816145;8125298;9645692 55823 B7Z879;Q658K0;Q9H270 AB027508;ABBA01039679;ABBA01039680;AF258558;AF308800;AK023279;AK026012;AK056701;AK223158;AK302973;AL834218;AMYH02025659;AMYH02025660;AP003392;BC012051;BC065563;BI561271;CH471065;KF511489;NG_029670;NM_001290185;NM_021729 AAG23761;AAG34677;AAH12051;AAH65563;BAA95163;BAB15320;BAD96878;BAG51790;BAH13865;CAH56401;EAW67444;EAW67445;EAW67446;NP_001277114;NP_068375;Q9H270 Hs.234282 1671862;1712330;1737771;1773669;2147890;2189503 A004G17;D11S3369;G54074;MARC_7601-7602:992008552:1;STS-Z40836;WI-11749 END1;PEP5;RNF108;hVPS11 RING finger protein 108;vacuolar protein sorting protein 11;vacuolar protein sorting-associated protein 11 homolog APPROVED protein-coding ENSG00000160695 HGNC:14583 12258 608549 REVIEWED 1312307 VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 9 9 9 q21 50369484 50609533 + 79792269 80032399 + 77177353 77417483 + 1599747;6480464;7240710;8554872;8699517 11381253 10231032;10737800;11381254;12477932;12671946;14702039;15146197;15164053;15489334;15498460;15918062;17474147;17673232;17998451;20301334;20301561;20379614;20972266;21139048;21598378;21733561;21890473;21906983;21963094;21987550;21987572;22038564;22227296;22366033;23568775;23746940;24129186;24250222;9382101 23230 H0Y7P8;H0YF78;H0YG53;Q96RL7 AB023203;AB054005;ABBA01033926;ABBA01033927;AF337532;AJ608769;AJ626859;AK000273;AK022967;AK027023;AK124024;AL158159;AL353710;AL359204;AMYH02021032;AMYH02021033;AMYH02021034;AW303378;BC020576;BC041852;BF801459;BI828209;BQ011213;CB104862;CD109338;CH471089;CN348731;EB387114;NG_008931;NM_001018037;NM_001018038;NM_015186;NM_033305;XR_242579;XR_242580 AAH20576;AAH41852;AAI72755;AAK61861;BAA76830;BAB14337;BAB59128;BAG53993;CAE75581;CAF25186;EAW62597;EAW62598;EAW62599;EAW62600;EAW62601;EAW62602;NP_001018047;NP_001018048;NP_056001;NP_150648;Q96RL7 Hs.459790;Hs.662256 1338616;1665903;1758835;1778853;2114044;2140062 AB055267;D9S1674;D9S1768;D9S2082;SHGC-150824;SHGC-32427 CHAC;FLJ42030;KIAA0986 CHOREIN;OTTHUMP00000021513;OTTHUMP00000021514;OTTHUMP00000240008;OTTHUMP00000240059;chorea-acanthocytosis protein;vacuolar protein sorting 13A;vacuolar protein sorting-associated protein 13A APPROVED protein-coding ENSG00000197969 HGNC:1908 05814 200150;605978 REVIEWED 1345721 VPS16 vacuolar protein sorting 16 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] 20 20 20 p13 2882628 2909733 + 2821373 2847378 + 2840697 2866732 + 1580863;6480464;8554872 11250079;11382755;11780052;12477932;14702039;15489334;16203730;17897319;18552835;18799622;19109425;20434987;21139048;21890473;21906983;21963094;21987572;22505724;22939629;23000965;23901104;24816145 64601 Q5JUA8;Q5JUA9;Q5JUB0;Q9H269 ABBA01053799;AF308801;AK055787;AL161656;AL834401;AMYH02036588;AMYH02036589;BC012422;BC021291;BC030571;BC044662;BC064406;BC073959;BC126431;BM468030;BU845142;CH471133;CN483115;NM_022575;NM_080413 AAG34678;AAH12422;AAH21291;AAH64406;AAH73959;AAI26432;BAB71013;CAD39063;EAX10564;EAX10565;EAX10566;NP_072097;NP_536338;Q9H269 Hs.269577 1761573;2134405;5021500 RH66062;SHGC-145577;SHGC-30809 hVPS16 OTTHUMP00000030047;OTTHUMP00000030048;vacuolar protein sorting 16 (yeast);vacuolar protein sorting 16 homolog A (S. cerevisiae);vacuolar protein sorting protein 16;vacuolar protein sorting-associated protein 16 homolog APPROVED protein-coding ENSG00000215305 HGNC:14584 12259 608550 REVIEWED 1323077 VPS18 vacuolar protein sorting 18 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008] 15 15 15 q14-q15 17954509 17964054 + 41186628 41196173 + 40894430 40903975 + 1580863;6480464;8554872 10819331;11250079;11382755;12477932;14623309;15489334;16203730;16996030;17081983;17353931;17897319;18552835;18799622;19109425;20434987;20562859;21139048;21450827;21963094;21988832;22589738;22761998;22939624;22939629;23434281;24816145 57617 H0YLM6;H0YMC9;Q9P253 AB040908;ABBA01038428;AC025166;AF308802;AL713725;AMYH02030255;BC001513;CH471125;NM_020857 AAG34679;AAH01513;ABM83678;ABM86974;BAA95999;CAD28515;EAW92461;EAW92462;EAW92463;EAW92464;EAW92465;NP_065908;Q9P253 Hs.23876 2125121 STS-AA037759 KIAA1475;PEP3;hVPS18 OTTHUMP00000160630;vacuolar protein sorting protein 18;vacuolar protein sorting-associated protein 18 homolog APPROVED protein-coding ENSG00000104142 HGNC:15972 09776 608551 REVIEWED 1318152 VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 11403306 11683636 + 12290101 12572099 + 12230056 12512047 + 6480464;8554872 12421765;12477932;14702039;15489334;15498460;16710414;19056867;20379614;20610895;21139048;21182205;8619474;9110174;9455484 55187 F5GX56;H3BLS7;Q5THJ4;R4GMW1 AB007922;ABBA01003076;ABBA01003077;ABBA01003078;ABBA01003079;ABBA01003080;ABBA01003081;ABBA01003082;ABBA01003083;ABBA01003084;ABBA01003085;AC243836;AF052104;AI290874;AJ608774;AJ608775;AK001481;AK026719;AK057675;AK074350;AK125118;AK295882;AK304850;AL031276;AL031296;AL109757;AL162331;AL833079;AL833320;AMYH02000307;BC025329;BC028115;BC051804;BQ883441;BX641035;BX682532;BX784395;BX784396;CH471130;FO535326;NM_015378;NM_018156 AAH28115;AAH51804;BAA32298;BAC86054;BAG58678;BAH14269;CAB82724;CAE46021;CAE75586;CAE75587;CAI19411;CAI19412;CAI19413;CAI19414;EAW71737;EAW71738;EAW71739;NP_056193;NP_060626;Q5THJ4 Hs.439381 1342089;1663576;1672719;1680080;1688474;1690478;1691874;1692358;1692944;1714699;1720493;1732838;1848227;2107759;2114295;2126293;2136870;2150770;2169399;2169401;2176693;2181328;5123861;7187639 A001Y09;AL009397;AL010021;AL033990;AL034037;AL034187;D1S1279;D1S1907E;D1S2169;D1S434;G19775;G31119;G34866;G59200;RH11824;RH120014;RH79962;RH80215;RH91951;SHGC-24271;SHGC-33665;SHGC-74229;VPS13D__5075 FLJ23066 OTTHUMP00000015345;OTTHUMP00000015346;OTTHUMP00000215031;vacuolar protein sorting 13D;vacuolar protein sorting 13d (yeast);vacuolar protein sorting-associated protein 13D APPROVED protein-coding ENSG00000048707 HGNC:23595 10593 608877 REVIEWED 1317598 VPS13B vacuolar protein sorting 13 homolog B (yeast) This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 8 8 8 q22.2 96211225 97075608 + 100025299 100890447 + 99011179 99878219 + 1357205;1580863;6480464;7240710;8554872;8699517 12730828 12477932;14702039;15141358;15154116;15498460;17081983;17990063;18655112;19006247;19320733;19533689;19680589;19913121;20301655;20360068;20461111;20628086;20656880;21139048;21353197;21865173;21906983;22745009;23455922;24311531;7920642;8125298;9359041;9628581 157680 H0YB72;Q7Z7G8 AB011104;ABBA01037546;ABBA01037547;ABBA01037548;ABBA01037549;ABBA01037550;ABBA01037551;ABBA01037552;ABBA01037553;ABBA01037554;ABBA01037555;ABBA01037556;ABBA01037557;ABBA01037558;AC018442;AC023933;AC026827;AC104986;AC105195;AC105328;AC107909;AJ608772;AJ608773;AK000590;AK091431;AK223122;AMYH02018487;AMYH02018488;AMYH02018489;AMYH02018490;AMYH02018491;AMYH02018492;AMYH02018493;AMYH02018494;AMYH02018495;AMYH02018496;AMYH02018497;AP004289;AP004290;AY223814;AY223815;AY223816;AY223817;AY223818;BC020813;BC033121;BC094749;BC132976;BC132978;BC144379;BX098890;BX647561;BX648610;CA447487;CH471060;KC877278;NG_007098;NM_015243;NM_017890;NM_152564;NM_181661;NR_047582;XM_005250800;XM_005250801;XM_006716510;XM_006716511 AAH20813;AAH33121;AAP41102;AAP41103;AAP41104;AAP41105;AAP41106;BAA25458;BAA91275;BAC03664;BAD96842;CAE75584;CAE75585;EAW91786;EAW91787;EAW91788;NP_056058;NP_060360;NP_689777;NP_858047;Q7Z7G8;XP_005250857;XP_005250858;XP_006716573;XP_006716574 Hs.191540 1335083;1336191;1336773;1339460;1654872;1686744;1698516;1707676;1718909;1732063;1735802;1735822;1747771;1749831;1757527;1759073;1769690;1769883;1786562;1852472;1852962;2114743;2123625;2126915;2130120;2134642;2137879;2143853;2169197;2170857;2171735;2180534;2219058;5015961;5022578;5024756;5094082;5094130;5116978 1734;A003B20;A006N10;A008R07;COH1__4613;D15S1477;D1S1423;D8S1415E;D8S1427E;D8S1649;D8S1762;D8S1789;D8S1808;D8S470;D8S546;D8S590;D8S600;G17262;G32151;G32190;G34962;G54563;G66806;RH102808;RH123160;RH67322;RH68094;RH80030;SHGC-111567;SHGC-112138;SHGC-144958;SHGC-150813;SHGC-52565;SHGC-82008;STS-N66159;WI-11650;WI-14296;WI-17906;ha3298 CHS1;COH1;DKFZp313I0811;KIAA0532 OTTHUMP00000179146;OTTHUMP00000179147;OTTHUMP00000179148;OTTHUMP00000227256;cohen syndrome protein 1;vacuolar protein sorting 13B;vacuolar protein sorting-associated protein 13B APPROVED protein-coding ENSG00000132549 HGNC:2183 06379 216550;607817 REVIEWED 1343417 VPS26A vacuolar protein sorting 26 homolog A (S. pombe) This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 10 10 10 q21.1 64159753 64208441 + 70883908 70932617 + 69124152 69172861 + 1298632;1580863;6480464 9653160 11042152;11102511;11598206;12477932;14702039;15164054;15247922;15282546;15489334;16190980;16196087;16315276;1638986;16407403;16732284;16784798;17101778;18781797;19322201;19531583;19738201;20619655;20682791;21139048;21874001;21875946;21890473;21906983;21920005;21963094;22053931;22284051;22354992;22610502;22863883;22939629;23000965;23452853;23455922;23903356;24654937;24816145;25027693 9559 O75436;S4R2Y3;S4R3Q6 ABBA01019600;ABBA01019601;ABBA01019602;AF054179;AF175266;AK022992;AK290536;AK297142;AK309021;AK315496;AL110166;AL442635;AL596223;AMYH02023269;BC022505;BQ048905;BX647725;BX649092;CD358963;CH471083;NM_001035260;NM_004896 AAC39912;AAF89954;AAH22505;ACE86963;ACE87653;BAB14351;BAF83225;BAG37880;BAG59643;EAW54311;EAW54312;EAW54313;NP_001030337;NP_004887;O75436 Hs.499925 1645066;1701540;2113638;2172833;2183651;5014740;5093202 A009J19;D17S610;G32580;RH104403;RH11330;UniSTS:478961;WI-11750 FLJ12930;HB58;Hbeta58;PEP8A;VPS26;hVPS26 OTTHUMP00000019721;vacuolar protein sorting 26 (yeast);vacuolar protein sorting-associated protein 26A;vesicle protein sorting 26A APPROVED protein-coding ENSG00000122958 HGNC:12711 08385 605506 REVIEWED 7175203 VPS26AP1 VPS26A pseudogene 1 3 3 3 112046564 112047539 + 113638069 113639044 + 113919222 113920197 + 100421731 ABBA01061641;AC128687;AMYH02007456;NG_025727 1645066 A009J19 APPROVED pseudo HGNC:44611 INFERRED 7175202 VPS26BP1 VPS26B pseudogene 1 3 3 3 47951322 47952073 - 48001820 48002571 - 47960330 47961081 - 100421729 ABBA01024665;AC139667;AMYH02006711;NG_025575 APPROVED pseudo HGNC:44612 INFERRED 1315210 VPS28 vacuolar protein sorting 28 homolog (S. cerevisiae) This gene encodes a protein subunit of the ESCRT-I complex (endosomal complexes required for transport), which functions in the transport and sorting of proteins into subcellular vesicles. This complex can also be hijacked to facilitate the budding of enveloped viruses from the cell membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 8 8 8 q24.3 141823433 141828362 - 145648984 145653946 - 144423601 144428563 - 1580863;6480464;6907045 11031247;11134028;11591653;11916981;12477932;12588984;12663786;12857913;12892785;14505570;14519844;14702039;15218037;15240819;15342556;15489334;15509564;16004603;16169070;16189514;16778200;16940516;17853893;17940959;17982468;18005716;18077552;18539118;19056867;19060904;19524996;19738201;20360068;20708039;21139048;21543492;21596998;21757351;21762798;21963094;22004035;22405001;23000965;23027949;23305486;23895345;24250222;24284069;24816145 51160 E9PLM9;E9PM90;E9PQR7;E9PR04;Q548N1;Q9UK41 ABBA01005205;AC233992;AF182844;AF205589;AF316887;AF445417;AK026865;AK090942;AK091979;AK310062;AMYH02019006;BC006485;BC019321;BC050438;BC050712;BC050713;BP380505;BU658837;CH471162;N31929;NG_029456;NM_016208;NM_183057;R72904;XM_005272323;XM_005272324;XM_005272325;XM_006716577;XM_006716578;XM_006716579;XM_006716580;XM_006716581 AAF00499;AAH06485;AAH19321;AAH50713;AAK00314;AAQ04641;ADZ15838;EAW82094;EAW82095;EAW82096;EAW82097;EAW82098;EAW82099;EAW82100;NP_057292;NP_898880;Q9UK41;XP_005272380;XP_005272381;XP_005272382;XP_006716640;XP_006716641;XP_006716642;XP_006716643;XP_006716644 Hs.418175 1683823;2165922;2191455;5015861;7185938 A006J21;D10S16;MARC_23623-23624:1027527533:1;RH16000 MGC60323 ESCRT-I complex subunit VPS28;H-Vps28;OTTHUMP00000228917;OTTHUMP00000228919;OTTHUMP00000228927;OTTHUMP00000228928;vacuolar protein sorting 28 (yeast);vacuolar protein sorting-associated protein 28 homolog;yeast class E protein Vps28p homolog APPROVED protein-coding ENSG00000160948 HGNC:18178 11675 611952 REVIEWED 1603949 VPS25 vacuolar protein sorting 25 homolog (S. cerevisiae) This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Jul 2013] 17 17 17 q21.31 37581441 37587604 + 40925454 40931618 + 42773436 42779600 + 6480464;6907045 11031247;11278625;12477932;14505570;14519844;15007060;15218037;15489334;15511219;15755741;16189514;16371348;16730941;16973552;17010938;17207965;18539118;19056867;19686684;19913121;20628086;21139048;21543492;21890473;21906983;21963094;22053931;22863883;22939629;23305486 84313 K7EKV4;K7ENE3;K7EP45;Q9BRG1 AB014763;ABBA01006408;AC100793;AK312092;AMYH02033437;BC006282;BU630023;CH471152;NM_032353 AAH06282;ADQ32783;BAB87804;BAG35028;EAW60879;EAW60880;NP_115729;Q9BRG1 Hs.500165 1685133;2133724;2171562;2191605 D17S1199;D7S2800;MARC_27470-27471:1034353500:1;RH66580 DERP9;EAP20;FAP20;MGC10540;hVps25 ELL-associated protein of 20 kDa;ESCRT-II complex subunit VPS25;dermal papilla-derived protein 9;vacuolar protein-sorting-associated protein 25 APPROVED protein-coding ENSG00000131475 HGNC:28122 14396 610907 REVIEWED 731826 VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 122305460 122340912 - 122714111 122751068 - 122231547 122266521 - 1580863;6480464;8554872 11250079;11382755;12477932;12538872;14702039;15342556;15489334;15790593;16203730;17897319;18552835;19109425;20434987;20562859;21139048;21890473;21906983;21963094;22053931;22203954;22939629;23000965;23667531;24816145;8996080 65082 F5H2X5;F5H6Y0;F5H7N5;Q96AX1 ABBA01060475;AC048338;AF439857;AK026048;AK026840;AK315545;AMYH02027417;AMYH02027418;BC016617;BI551252;BP199163;CH471054;NM_022916 AAH16617;AAL33577;ABW03704;BAB15336;BAB15570;BAG37923;EAW98319;NP_075067;Q96AX1 Hs.592009 1672357;1675243;1739227;1773766;2165022;5015861;5093036;7185938 A009E34;D10S16;D6S1375;G32482;RH44549;SGC34693;STS-R99269 FLJ22395;FLJ23187 OTTHUMP00000239751;OTTHUMP00000239752;hVPS33A;vacuolar protein sorting 33A;vacuolar protein sorting protein 33a;vacuolar protein sorting-associated protein 33A APPROVED protein-coding HGNC:18179 15651 610034 VALIDATED 732726 VPS33B vacuolar protein sorting 33 homolog B (yeast) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 15 15 15 q26.1 67950993 67975048 - 91541774 91565833 - 90998416 91022621 - 730029;1599749;1580863;6480464;7240710;8554872;8699517 15052268;8996080 10894945;11250079;12477932;14702039;15489334;15790593;16123220;16189514;16344560;18347289;18367154;18474358;18552835;19109425;19274792;21139048;21832049;21890473;21900206;21906983;22677173;22753090;22939629;23002115;23918659;24163370;24255178;24415890;24816145 26276 B7Z1N4;F5H008;G3V3F9;Q9H267 ABBA01053075;AC068831;AF201694;AF308803;AJ713428;AK027754;AK074863;AK293688;AK300608;AK308480;AK315721;AL357472;AMYH02031058;AMYH02031059;AMYH02031060;BC016445;CB048637;CH471101;CQ783712;DA020491;DC397488;NG_012162;NM_001289148;NM_001289149;NM_018668;XM_005254884;XM_005254887;XM_005254888;XM_006720471 AAF91174;AAG34680;AAH16445;BAB55345;BAG52018;BAH11570;BAH13313;CAB93109;CAF86824;EAX02139;EAX02140;NP_001276077;NP_001276078;NP_061138;Q9H267;XP_005254941;XP_005254944;XP_005254945;XP_006720534 Hs.745007 2134509;2144489 RH44068;WI-22047 FLJ14848 OTTHUMP00000194751;OTTHUMP00000246709;hVPS33B;vacuolar protein sorting 33B;vacuolar protein sorting homolog r-vps33b;vacuolar protein sorting-associated protein 33B APPROVED protein-coding ENSG00000184056 HGNC:12712 10541 208085;608552 REVIEWED 1603929 VPS26B vacuolar protein sorting 26 homolog B (S. pombe) INVOLVED IN protein transport (inferred); FOUND IN intracellular membrane-bounded organelle; cytosol (ortholog); INTERACTS WITH atrazine; diazinon; uranium atom 11 11 11 q25 131267426 131290549 + 134094561 134117686 + 134224667 134247792 + 6480464 11102511;12477932;15489334;16190980;21139048;21920005;22354992;22939629;24250222;24816145 112936 H0YCI7;Q4G0F5 ABBA01031113;ABBA01031114;AF452718;AMYH02025834;AP000859;BC007799;BC009747;BC013255;BC014128;BC098386;CD369199;CH471065;KC877501;NM_052875 AAH09747;AAH14128;AAH98386;AAP13353;ABW03510;ABW03822;EAW67825;EAW67826;EAW67827;NP_443107;Q4G0F5 Hs.334684 1684026;1686786;1740155;2121654;2144307;2147884 A003B43;A004P16;Cda16f12;D11S4071;RH12238;RH65284 MGC10485;Pep8b OTTHUMP00000235414;OTTHUMP00000235415;vacuolar protein sorting-associated protein 26B;vesicle protein sorting 26B protein-coding ENSG00000151502 HGNC:28119 14395 610027 VALIDATED 6783163 VPS25P1 VPS25 pseudogene 1 1 1 1 p12 116319709 116320209 + 118092037 118092537 + 117549415 117549915 + 441899 ABBA01068503;AL157902;AMYH02001801;NG_022801 1685133 RH66580 APPROVED pseudo HGNC:44250 INFERRED 1320260 VPS36 vacuolar protein sorting 36 homolog (S. cerevisiae) This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013] 13 13 13 q14.3 33972434 34010460 + 52986737 53024798 - 52412602 52450678 - 6480464;6907045;8554872 10810093;11031247;11278625;12477932;14505570;14519844;14702039;15057823;15218037;15489334;15755741;16344560;16371348;16973552;17010938;17057716;18539118;19056867;19322201;20682791;21139048;21145461;21543492;21890473;22863883;22939629 51028 Q59H03;Q86VN1 AB208956;ABBA01006537;ABBA01006538;ABBA01006539;AF151903;AI221133;AI352102;AK022911;AK023182;AK289740;AL359513;AMYH02028045;AMYH02028046;BC037279;BC050439;BG400860;BX537689;BX647847;CB959894;CH471274;CR933653;DA461148;NM_001282168;NM_001282169;NM_016075 AAD34140;AAH37279;AAH50439;BAB14451;BAD92193;BAF82429;CAI45953;EAW55895;NP_001269097;NP_001269098;NP_057159;Q86VN1 Hs.109520 1668874;1853120;2111150;2139063;5037552 A002M11;D13S298;D8S2279;RH183;SGC32898 C13orf9;CGI-145;DKFZp781E0871;EAP45 ELL-associated protein of 45 kDa;ELL-associated protein, 45 kDa;ESCRT-II complex subunit VPS36;OTTHUMP00000018449;chromosome 13 open reading frame 9;vacuolar protein-sorting-associated protein 36 APPROVED protein-coding ENSG00000136100 HGNC:20312 12620 610903 REVIEWED 1604528 VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 8 8 8 p22 16070442 16121576 + 17104401 17155533 + 17246892 17298024 + 6480464;6907045;8699517;7240710;8554872 11031247;12477932;14623289;14702039;15218037;15240819;15509564;16004603;17207965;17903302;18005716;18029348;20301682;20654576;21139048;21757351;21832049;21906983;22016507;22405001;22717650;23455924;24284069;24816145;9875212 137492 E5RG91;E5RHB8;E5RJ10;E5RJX6;H0YBN0;Q8NEZ2 ABBA01021585;AC091050;AC124074;AC142097;AF547097;AK057204;AK090607;AK124607;AMYH02017530;AY033079;BC022363;BC067754;CH471080;NG_032996;NM_001145152;NM_152415;XM_005273400;XM_005273401;XM_006716286 AAH22363;AAH67754;AAK54349;AAQ12067;ADQ31942;BAB71381;BAG54057;EAW63817;EAW63818;EAW63819;NP_001138624;NP_689628;Q8NEZ2;XP_005273457;XP_005273458;XP_006716349 Hs.343873 1683884;1684692;1794218;1794220;2132101;2148971;2152026;5093152 A008M23;A009H32;G32551;PMC310830P26;PMC310830P27;RH40514;RH99119;STS-H02020 FLJ32642;FLJ42616;HCRP1;PQBP2;SPG53 ESCRT-I complex subunit VPS37A;OTTHUMP00000161346;OTTHUMP00000225268;hVps37A;hepatocellular carcinoma related protein 1;hepatocellular carcinoma-related protein 1;polyglutamine binding protein 2;vacuolar protein sorting 37A;vacuolar protein sorting-associated protein 37A protein-coding ENSG00000155975 HGNC:24928 13410 609927;614898 REVIEWED 1350372 VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008] 16 16 16 q12 31201751 31231306 - 46693589 46723144 - 46659677 46689232 - 1300445;1580863;6480464;8699517;7240710;8554872 11112353 11062004;11076863;11102511;11230166;11256614;12477932;14702039;15231748;15247922;15282546;15489334;15489336;16190980;16196087;16335966;16344560;16381901;17101778;17215244;17353931;17620599;17891154;17897319;17916227;18029348;18781797;19056867;19322201;19531583;19553991;19615732;19738201;19874558;20000738;20164305;20301402;20619655;20923837;21139048;21319273;21515373;21733561;21763482;21763483;21822266;21832049;21849449;21875946;21890473;21903422;21906983;21988832;22053931;22154191;22278960;22284051;22336192;22354992;22410496;22513087;22517097;22623428;22673036;22673115;22797925;22801713;22863883;22891780;22939629;22991136;23125461;23166591;23261770;23408866;23411763;23452853;23455922;23463506;23536430;23726718;24152121;24250222;24262182;24654937;24816145;25027693;8125298;8619474;8889548;9110174 55737 H3BRJ7;I3L4P4;I3L4S0;Q96QK1 ABBA01013771;ABBA01013772;AC007225;AC012186;AF086051;AF175265;AF183418;AF186382;AF191298;AK000395;AK001614;AK023650;AK025774;AK223218;AL136888;AL512769;AMYH02031966;AMYH02031967;AY007112;BC002414;BC010362;BC041367;BC093036;BM971213;BQ574179;BX647213;CH471092;DB049686;NG_029970;NM_018206;XM_005256045 AAF02778;AAF89953;AAG01989;AAG09687;AAG40619;AAH02414;AAH10362;AAH93036;BAA91137;BAA91790;BAB14626;BAD96938;CAB66822;CAC21686;CAI46268;CAL38615;EAW82683;EAW82684;NP_060676;Q96QK1;XP_005256102 Hs.454528 1684331;2118454 D16S3222;RH79844 DKFZp434E1211;DKFZp434P1672;FLJ10752;FLJ13588;FLJ20388;MEM3;PARK17;hVPS35 OTTHUMP00000163364;maternal-embryonic 3;vacuolar protein sorting-associated protein 35;vesicle protein sorting 35 APPROVED protein-coding HGNC:13487 06085 601501;614203 REVIEWED 1348377 VPS13C vacuolar protein sorting 13 homolog C (S. cerevisiae) This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 15 15 15 q22.2 39034037 39241888 - 62144588 62352664 - 61852389 62060465 - 6480464;8554872 10718198;12477932;14702039;15489334;15498460;17081983;17370265;19056867;20081857;20889312;21139048;21249489;21789219;21873549;21890473;21906983;22505724;22581228;22956255;23000965;23382691;24250222;24816145 54832 Q6ZQY1;Q709C8 AB037842;ABBA01038928;ABBA01038929;ABBA01038930;AC009554;AC104590;AJ608770;AJ608771;AJ626860;AJ626861;AK000143;AK001243;AK025014;AK025364;AK123851;AK128650;AK304408;AK307518;AL833377;AMYH02030571;AMYH02030572;AMYH02030573;AMYH02030574;BC069387;BX648470;BX648766;CH471082;CR936716;H05069;NG_027782;NM_001018088;NM_017684;NM_018080;NM_020821 AAH69387;BAA90972;BAA92659;BAC87549;BAG53972;BAG65241;CAE75582;CAE75583;CAF25187;CAF25188;EAW77599;EAW77600;EAW77601;EAW77602;EAW77603;EAW77604;EAW77605;EAW77606;EAW77607;NP_001018098;NP_060154;NP_060550;NP_065872;Q709C8 Hs.511668 1644991;1653403;1680551;1700130;1704790;1739415;2182802;5015861;5017495;7185938 AFMB317XG9;D10S16;D15S872E;G17875;RH103678;RH92101;SHGC-79862;VPS13C;WI-14756 DKFZp686E0570;FLJ21361 OTTHUMP00000163686;vacuolar protein sorting 13C;vacuolar protein sorting 13c (yeast);vacuolar protein sorting-associated protein 13C APPROVED protein-coding ENSG00000129003 HGNC:23594 12323 608879 REVIEWED 1605953 VPS37B vacuolar protein sorting 37 homolog B (S. cerevisiae) INVOLVED IN endosomal transport (inferred); intracellular transport of virus (inferred); membrane organization (inferred); PARTICIPATES IN endocytosis pathway; FOUND IN ESCRT I complex; extracellular vesicular exosome; midbody; INTERACTS WITH 2-methylcholine; aflatoxin B1; cadmium atom 12 12 12 q24.31 122941170 122971994 - 123349875 123380712 - 122865328 122896165 - 6480464;6907045 11031247;12477932;14702039;15218037;15240819;17853893;18005716;19056867;19129479;19531213;19542561;20379614;21139048;21762798;21906983;22004035;22405001;22939629;23027949;23305486;23895345;23924735;24284069;24816145 79720 F5H1F6;F5H4M0;Q9H9H4 ABBA01060444;ABBA01060445;ABBA01060446;AC027290;AK022812;AMYH02027441;AMYH02027442;BC005882;BU629695;CH471054;NM_024667;XM_005253621;XM_005253622;XM_006719602 AAH05882;BAB14255;EAW98348;EAW98349;EAW98350;EAW98351;NP_078943;Q9H9H4;XP_005253678;XP_005253679;XP_006719665 Hs.507162 1676576;1678159;1851398 BCD1833;RH80051;RH98647 FLJ12750 ESCRT-I complex subunit VPS37B;OTTHUMP00000239379;OTTHUMP00000239380;OTTHUMP00000239381;hVps37B;vacuolar protein sorting 37B;vacuolar protein sorting-associated protein 37B protein-coding ENSG00000139722 HGNC:25754 07794 610037 VALIDATED 1605989 VPS37C vacuolar protein sorting 37 homolog C (S. cerevisiae) VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM, Mar 2008] 11 11 11 q12.2 58257905 58289087 - 60897728 60928916 - 61130256 61161444 - 6480464;6907045 11031247;12477932;14702039;15218037;15509564;17853893;18029348;19056867;19773279;20360068;20379614;21139048;21757351;21832049;23314748;23924735;24284069;24390342 55048 A5D8V6;F5H4Q5 ABBA01003191;AC244206;AK000854;AK097326;AK302384;AL834261;AMYH02024877;AP000437;BC005805;BC062604;BC141827;BC142702;BM450171;CH471076;CR457250;NM_017966;XM_005274077;XM_005274078;XM_005274079 A5D8V6;AAI41828;AAI42703;BAA91399;BAG63701;CAD38936;CAG33531;EAW73925;EAW73926;EAW73927;NP_060436;XP_005274134;XP_005274135;XP_005274136 Hs.523715 2129066;2179681 RH12137;SHGC-31731 FLJ20847 ESCRT-I complex subunit VPS37C;OTTHUMP00000236974;OTTHUMP00000236975;hVps37C;vacuolar protein sorting 37C;vacuolar protein sorting-associated protein 37C APPROVED protein-coding ENSG00000167987 HGNC:26097 15652 610038 VALIDATED 1349183 VPS37D vacuolar protein sorting 37 homolog D (S. cerevisiae) INVOLVED IN endosomal transport (inferred); intracellular transport of virus (inferred); membrane organization (inferred); PARTICIPATES IN endocytosis pathway; FOUND IN ESCRT I complex; extracellular vesicular exosome; INTERACTS WITH 2-methylcholine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); choline (ortholog) 7 7 7 q11.23 68560386 68564652 + 73082174 73086440 + 73667844 73672110 + 6907045;6480464 11031247;12477932;15218037;17853893;19056867;23505323 155382 C9JYT9;Q86XT2 ABBA01063942;AC073846;AMYH02016027;AY081952;BC029730;BC064621;CH471200;NM_001077621 AAH64621;AAI56355;AAI57107;AAL91075;EAW69659;NP_001071089;Q86XT2 Hs.647037 MGC35352;WBSCR24 ESCRT-I complex subunit VPS37D;OTTHUMP00000211797;Williams Beuren syndrome chromosome region 24;Williams-Beuren syndrome critical region protein 24;vacuolar protein sorting 37D;vacuolar protein sorting-associated protein 37D;williams-Beuren syndrome chromosomal region 24 protein;williams-Beuren syndrome region protein 24 protein-coding ENSG00000176428 HGNC:18287 610039 VALIDATED 1318040 VPS29 vacuolar protein sorting 29 homolog (S. cerevisiae) This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a component of a large multimeric complex, termed the retromer complex, which is involved in retrograde transport of proteins from endosomes to the trans-Golgi network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrograde vesicles leaving the prevacuolar compartment. Alternative splice variants encoding different isoforms and representing non-protein coding transcripts have been found for this gene. [provided by RefSeq, Aug 2013] 12 12 12 q24 110556089 110566675 - 110929330 110939916 - 110491523 110502140 - 1580863;6480464 11062004;11076863;11102511;11230166;11256614;12477932;15247922;15282546;15489334;15489336;15788412;16169070;16381901;16712791;16737443;17101778;17891154;19531583;20923837;21629666;21832049;21900206;21906983;22354992;22863883;22939629;23452853;8889549;9700157 51699 F8VXU5;Q05DG7;Q9UBQ0 AA148059;AB578890;AB578891;AB578892;AB618733;ABBA01005110;AC002350;AF086379;AF168716;AF175264;AF193795;AF201936;AF201946;AK000499;AK129767;AK130510;AL136614;AL832866;AMYH02027186;BC000880;BC015095;BC017964;BC032462;BC095446;BF030144;BG707325;BM806646;BU568689;CB158821;CH471054;CR457182;CR533468;NM_001282150;NM_001282151;NM_016226;NM_057180;NR_104099;NR_104100;NR_104101;NR_104102;XM_006719459;XM_006719460;XM_006719461;XM_006719462 AAF04596;AAF17238;AAF86872;AAF87318;AAF89952;AAH00880;AAH15095;AAH32462;AAH95446;BAJ83889;CAB66549;CAG33463;CAG38499;CAI46196;CAL37713;EAW97918;EAW97919;NP_001269079;NP_001269080;NP_057310;NP_476528;Q9UBQ0;XP_006719522;XP_006719523;XP_006719524;XP_006719525 Hs.600114 1679870;1774585;5015881;5022576;5037552 D1S1361;D8S2279;GDB:335751;RH47395;RH80970 DC15;DC7;DKFZp564F0223;FLJ20492;PEP11;hVPS29 OTTHUMP00000241436;OTTHUMP00000241437;OTTHUMP00000241439;PEP11 homolog;retromer protein;vacuolar protein sorting 29 (yeast);vacuolar protein sorting-associated protein 29;vacuolar sorting protein VPS29/PEP11;vesicle protein sorting 29;x 007 protein APPROVED protein-coding ENSG00000111237 HGNC:14340 09499 606932 REVIEWED 732754 VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] 1 1 1 q21.2 123155097 123233224 + 150039350 150117505 + 150067293 150145327 + 730029;1580863;6480464;6907045;8699517;7240710;8554872 8996080 10404641;11062261;11788822;12110575;12477932;14623309;14702039;15016378;15489334;16344560;19931244;21139048;21890473;21906983;21963094;22053931;22505724;22939629;23000965;23599270;23738510;24816145;8125298;9045632 11311 B7Z360;B7Z5D4;B7Z5E4;F5GYC3;F6UM60;Q5T4Q0;Q9NRW7 ABBA01049319;ABBA01049320;ABBA01049321;ABBA01049322;AC242988;AC244033;AF165513;AJ133421;AK023170;AK223214;AK293555;AK295529;AK298786;AK298835;AK301994;AK307949;AL358073;AY453586;BC012932;BC028382;BG176899;CH471121;CR743023;DA122826;DA374440;NG_033910;NM_001279353;NM_001279354;NM_001279355;NM_007259;NR_103998;U35246;XM_006711142 AAC50931;AAF86643;AAH12932;AAH28382;AAS49034;ADZ15530;BAB14443;BAD96934;BAH11533;BAH12096;BAH12870;BAH12880;BAH13603;CAB40417;CAI14265;CAI14266;EAW53584;EAW53585;NP_001266282;NP_001266283;NP_001266284;NP_009190;Q9NRW7;XP_006711205 Hs.443750 1847735;1856185;2108641;2149927;2149929;2178565 D1S3029;D1S3132;G34838;RH11755;VPS45A_9258;WI-14283 H1;H1VPS45;SCN5;VPS45A;VPS45B;VPS54A;VSP45;VSP45A OTTHUMP00000014482;hlVps45;leucocyte vacuolar protein sorting 45;vacuolar protein sorting 45A;vacuolar protein sorting-associated protein 45;vesicular transport protein rvps45 APPROVED protein-coding ENSG00000136631 HGNC:14579 10301 610035;615285 REVIEWED 1351540 VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae) This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 11 11 11 q13 62189983 62205480 + 64863587 64879332 + 65096115 65111860 + 6480464 12477932;14702039;15489334;20685960;21139048;21890473;21900206;21906983;21987572;21988832;22053931;22939629;23932592;24816145;9286704;9615229 738 E9PJ36;E9PKE5;E9PKX7;E9PMB6;E9PQD5;E9PQN6;E9PRV0;H0YCB7;H0YDX9;H0YEE1;Q9UID3 ABBA01024136;AF024631;AK023941;AK093791;AL833818;AMYH02024952;AMYH02024953;AP003068;AW007399;BC006555;BC007198;BC009285;BC010540;BC010872;BC017438;BG391473;BI752026;BI823833;BI828867;BX401315;CD388131;CH471076;HY270070;NM_013265;NR_073519 AAF21627;AAH06555;AAH07198;AAH09285;AAH10540;AAH17438;CAD38681;EAW74347;NP_037397;Q9UID3 Hs.277517;Hs.732951 5015404;5015961;5020740;5022463;5024413;5037552;5117897 D15S1477;D3S1673;D8S2279;GDB:631813;L17705;L17809;L17877 ANG2;ANG3;C11orf2;C11orf3;FFR;FLJ13879;FLJ36472 OTTHUMP00000230395;another new gene 2 protein;fat-free homolog;vacuolar protein sorting-associated protein 51 homolog APPROVED protein-coding ENSG00000149823 HGNC:1172 12605 615738 REVIEWED 1312537 VPS39 vacuolar protein sorting 39 homolog (S. cerevisiae) This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] 15 15 15 q15.1 19218602 19268201 - 42450899 42500524 - 42158701 42208308 - 1580863;6480464;8554872 11076863;11230166;11448994;12168954;12477932;12941698;15489334;15489336;16381901;17897319;18552835;18799622;19109425;19913121;20363736;20628086;21139048;21319273;21454559;21906983;22939629;23022380;23167963;23418473;9872452 23339 H3BTU0;Q96JC1 AB018313;ABBA01038379;ABBA01038380;ABBA01038381;AC036103;AF280814;AF281052;AF334400;AK025334;AK074193;AK128403;AL117456;AMYH02030281;AMYH02030282;BC015817;BC068559;BX537404;CH471125;DB461120;NM_001301138;NM_015289;XM_005254259 AAH15817;AAH68559;AAK58862;AAK72222;AAQ05978;BAA34490;BAG54672;CAD97646;CAL37416;CAL38644;EAW92535;EAW92536;EAW92537;EAW92538;EAW92539;NP_001288067;NP_056104;Q96JC1;XP_005254316 Hs.88025 1661167;1687812;1690027;1736502;1775222;2124943;2169928;2182063;2183584;2183586;2185394;5023664 A002O28;A008B09;D15S1187;D15S1198;D15S708E;D15S793;D15S802;D15S897;RH46885;RH79193;RH93569;STS-H78300 FLJ21681;FLJ46546;KIAA0770;TLP;VAM6;hVam6p OTTHUMP00000161027;TRAP1-like protein;vam6/Vps39-like protein APPROVED protein-coding ENSG00000166887 HGNC:20593 10300 612188 REVIEWED 1314314 VPS4B vacuolar protein sorting 4 homolog B (S. cerevisiae) The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008] 18 18 18 q21.33 57776059 57809388 - 61056423 61089752 - 63389190 63422519 - 1580863;6480464;6907045 10393249;10637304;11031247;11042152;11559748;11563910;12477932;12594041;14505569;14505570;15024011;15173323;15489334;16004603;16018968;16174732;16193069;16344560;16757520;17014699;17081983;17207965;17266347;17553870;17601348;17928862;18796009;19056867;19129479;19322201;19403684;19524996;19615732;19690890;20164219;20616062;20621136;20972266;21139048;21145461;21248205;21304933;21841072;21890473;22252323;22684550;22939629;23000965;23737133;24107264;24250222;24268138;24440309;8082782;9653160 9525 K7EKZ3;K7EL71;O75351 ABBA01056216;ABBA01056217;ABBA01056218;AC036176;AF038960;AF195514;AF282904;AK290932;AK291253;AK308892;AK309322;AK311041;AMYH02034885;AY232629;BC009692;BC039574;CH471096;DA306069;NM_004869;XM_006722582 AAC39874;AAG01471;AAG33022;AAH09692;AAH39574;AAP59551;ACE86582;ACE87266;ADQ33040;BAF83621;BAF83942;EAW63143;EAW63144;NP_004860;O75351;XP_006722645 Hs.126550 1677164;1704356;1734572;1752501;5037552 D18S934E;D8S2279;RH99091;SHGC-106325;SHGC-78169 MIG1;SKD1;SKD1B;VPS4-2 OTTHUMP00000163679;cell migration-inducing 1;cell migration-inducing gene 1 protein;suppressor of K(+) transport growth defect 1;suppressor of K+ transport defect 1;vacuolar protein sorting 4B;vacuolar protein sorting 4b (yeast);vacuolar protein sorting-associated protein 4B APPROVED protein-coding ENSG00000119541 HGNC:10895 15653 609983 REVIEWED 1604402 VPS52 vacuolar protein sorting 52 homolog (S. cerevisiae) This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] 6 6 6 p21.3 34772418 34794017 - 33218049 33239723 - 33250272 33271965 - 6480464;8554872 10452889;12210484;12366783;12477932;14574404;14702039;15489334;15878329;18367545;18985028;19620288;19851445;20685960;21078624;21906983;21963094;22939629;24722188;24816145;8125298;9790748 6293 B3KMF7;B4DS44;E9PI03;Q8N1B4 ABBA01038138;ABBA01038139;AJ006026;AJ223319;AK001725;AK093057;AK222867;AK297935;AK299563;AK300308;AK300430;AK304080;AL031228;AL390171;AL559461;AL645940;AL713971;AL844527;AMYH02013481;AMYH02013482;AMYH02013483;AW150166;AX775737;BC032108;BC040114;BQ022405;BU167150;BX248408;CH471081;CR547129;CR759786;CR759817;CR762434;DC395438;DC400338;NM_001289174;NM_001289175;NM_001289176;NM_022553;XM_006715163;XM_006715164;XM_006725495;XM_006725496;XM_006725709;XM_006725710;XM_006725918;XM_006725919;XM_006726011;XM_006726012;XM_006726105;XM_006726106 AAH32108;AAH40114;BAD96587;BAG50969;BAG60251;BAG61506;BAG62061;BAG62156;BAG64987;CAA06821;CAA11260;CAB99099;CAE11568;CAI95618;CAI95619;EAX03686;EAX03687;EAX03688;EAX03689;EAX03690;EAX03691;EAX03692;EAX03693;NP_001276103;NP_001276104;NP_001276105;NP_072047;Q8N1B4;XP_006715226;XP_006715227;XP_006725558;XP_006725559;XP_006725772;XP_006725773;XP_006725981;XP_006725982;XP_006726074;XP_006726075;XP_006726168;XP_006726169 Hs.480356 1683924;2106409;2148587;2189719;5491346 D6S2761;G19781;M2_2_3;RH10585;Sacm2l ARE1;DKFZp547I194;RP5-1033B10;SAC2;SACM2L;dJ1033B10.5 OTTHUMP00000029414;SAC2 suppressor of actin mutations 2-like protein;vacuolar protein sorting-associated protein 52 homolog APPROVED protein-coding ENSG00000223501 HGNC:10518 09142 603443 REVIEWED 1605366 VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae) This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 423924 629862 - 411908 618096 - 508668 714856 - 6480464;8699517;7240710;8554872 12477932;12565177;12621583;14702039;15489334;15498874;15878329;16953216;17666431;18187620;18367545;19620288;20685960;21139048;21890473;22939629;23383273;23535732;24816145;8889548 55275 B3KS06;E7EVT8;F6VX93;I3L0S6;I3L184;I3L1W6;I3L4P9;Q5VIR6 ABBA01054614;ABBA01054615;ABBA01054616;ABBA01054617;AC015853;AC027455;AF085927;AF246287;AF318335;AK001841;AK056323;AK057942;AK091388;AK092532;AK123107;AK290343;AK299543;AL701573;AMYH02032718;AY444797;BC006116;BC029560;BC039432;BC040223;CB851054;CH471108;EU021218;EU434648;EU434649;EU434650;KC877627;KC877635;NG_034190;NM_001128159;NM_018289;XM_005256715;XM_005256716;XM_006721554;XM_006721555 AAH06116;AAH29560;AAK27973;AAL55842;AAS20944;ABW03005;ACA21423;ACA21424;ACA21425;BAA91935;BAF83032;BAG52568;BAH13062;EAW90658;EAW90659;EAW90660;EAW90661;EAW90662;NP_001121631;NP_060759;Q5VIR6;XP_005256772;XP_005256773;XP_006721617;XP_006721618 Hs.461819 1339405;1672202;1675622;1739871;1758621;2132549;2133118;2167812;2182405;5015404;5015861;5016478;5020740;5020946;5021369;5022200;5022463;5022651;5024413;5024761;5037552;5037738;7185443;7185938 A006Y45;D10S16;D11S2921;D17S849;D1S2511;D1S3689;D3S1673;D8S2279;GDB:434012;L17705;L17796;L17809;L17877;L17971;L18426;RH11875;RH18545;RH36905;RH80070;SHGC-148941;STS-R19362;WI-14673 FLJ10979;FLJ41112;FLJ61757;HCCS1;MGC39512;PCH2E;hVps53L;pp13624 vacuolar protein sorting-associated protein 53 homolog APPROVED protein-coding ENSG00000141252 HGNC:25608 07720 615850;615851 REVIEWED 1353898 VPS41 vacuolar protein sorting 41 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008] 7 7 7 p14-p13 38751388 38936638 - 38763543 38948800 - 38723943 38909200 - 1580863;6480464;8554872 10559961;11412045;12477932;12853948;15231748;17897319;18799622;19109425;19690564;19734545;19850127;20379614;20434987;21139048;21832049;21890473;21906983;22323726;22939624;22939629;23167963;23322049;7596406;9159129;9847074 27072 C9J2U9;C9J3F8;C9JU58;C9JZ11;H7BXH3;H7BZX6;H7C0K2;P49754 ABBA01056931;AC004850;AC005247;AK026848;AK074325;AK299143;AK314556;AMYH02015557;AMYH02015558;BC044851;BX648347;CH236951;CH471073;L40398;NM_014396;NM_080631;U87281;U87309 AAB47563;AAB47758;AAC42004;AAH44851;AAQ96883;AAS00372;AAS00373;ADR82667;BAG37141;BAG61195;EAW94113;EAW94114;NP_055211;NP_542198;P49754 Hs.592184 1336724;1654078;1661443;1671546;1695880;1717287;1753411;1768203;1771115;7186141 D7S2507;GDB:1317280;GDB:1318016;GDB:314167;RH122058;SHGC-107203;SHGC-24379;SHGC-56039;SHGC-78828 HVPS41;HVSP41;S53;hVps41p OTTHUMP00000135322;OTTHUMP00000135323;vacuolar assembly protein 41;vacuolar protein sorting-associated protein 41 homolog APPROVED protein-coding ENSG00000006715 HGNC:12713 10402 605485 REVIEWED 1350552 VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae) This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008] 2 2 2 p13-p14 63964934 64091495 - 64119280 64246526 - 63892146 64019355 - 619586;1580863;6480464;8554872 12039048 12174196;12477932;14702039;15489334;15878329;18367545;18574757;19389623;19620288;20379614;20615984;20685960;21087364 51542 Q9P1Q0 ABBA01075410;ABBA01075411;ABBA01075412;AC092588;AF102177;AK002205;AK025545;AK094019;AK124436;AK292669;AK292889;AL137604;AL359939;AL514510;AMYH02003961;AMYH02003962;AMYH02003963;AW452246;AY444798;BC030275;BC041868;CH471053;CR749701;NM_001005739;NM_016516;XM_006712029;XR_244939 AAF37319;AAH30275;AAH41868;AAS20945;ABM82006;ABM85188;BAA92134;BAF85358;BAF85578;CAB70837;CAB95772;CAH18479;EAW99952;NP_001005739;NP_057600;Q9P1Q0;XP_006712092 Hs.48499 1342181;1687688;2150732;7185330 D2S147;RH46124;RH93801 HCC8;PPP1R164;SLP-8p;VPS54L;WR;hVps54L OTTHUMP00000202089;OTTHUMP00000202090;OTTHUMP00000202091;hepatocellular carcinoma protein 8;tumor antigen HOM-HCC-8;tumor antigen SLP-8p;vacuolar protein sorting 54 (yeast);vacuolar protein sorting-associated protein 54 APPROVED protein-coding ENSG00000143952 HGNC:18652 10302 614633 REVIEWED 1314551 VPS72 vacuolar protein sorting 72 homolog (S. cerevisiae) The protein encoded by this gene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling SRCAP-containing complex. The TRRAP/TIP60 complex acetylates nucleosomal histones important for transcriptional regulation, double strand DNA break repair and apoptosis. The SRCAP-containing complex catalyzes the exchange of histone H2A with the histone variant Htz1 (H2AFZ) into nucleosomes. This protein may be responsible for binding H2AFZ, which has a role in chromosome segregation. This protein may also have a role in regulating long-term hematopoietic stem cell activity. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 1 1 1 q21 124264225 124277931 - 151148776 151162689 - 151176300 151190213 - 1580863;6480464;9495926 21502417 12477932;14966270;15489334;15647280;16189514;16230350;16710414;17567994;18218781;18239623;19322201;19471022;20946988;21693764;22096247;22467210;22939629;23455924;24816145;7664828;7702631;8125298;8889549 6944 Q15906 AA128103;ABBA01049381;ABBA01049382;AK222935;AK222939;AK225130;AK297565;AK310045;AL592424;AMYH02001873;AW194498;BC003151;BT019356;BT019357;BU539181;CH471121;CT003766;CX163016;D43642;DQ655941;DQ656047;NM_001271087;NM_001271088;NM_005997 AAH03151;AAV38163;AAV38164;ABM83866;ABM87188;BAA07757;BAD96655;BAD96659;BAG59957;EAW53462;NP_001258016;NP_001258017;NP_005988;Q15906 Hs.2430 1696098;1773631;1805980;1818706;1819076;1824912;1924666;1924668;1924670;1924672;1924674;1924676;1924678;1924680;1924682;1924684;1924686;1924688;1924690;1924692;1924694;1924696;1924698;1924700;1924702;1924704;1924706;1924708;1924710;1924712;1924714;2106705;2130889;2207448;2207450;2207452;2207454 Cda0ge12;ECD03943;ECD10417;ECD10604;ECD13555;REN33158;REN33159;REN33160;REN33161;REN33162;REN33163;REN33164;REN33165;REN33166;REN33167;REN33168;REN33169;REN33170;REN33171;REN33172;REN33173;REN33174;REN33175;REN33176;REN33177;REN33178;REN33179;REN33180;REN33181;REN33182;RH12845;SHGC-79127;TCFL1__5229;stSG627004;stSG627005;stSG627006;stSG627007 CFL1;Swc2;TCFL1;YL-1;YL1 OTTHUMP00000014278;OTTHUMP00000196170;transcription factor-like 1;transcription factor-like 1 (YL-1);transformation suppressor gene YL-1;vacuolar protein sorting-associated protein 72 homolog APPROVED protein-coding ENSG00000163159 HGNC:11644 02791 600607 REVIEWED 1352238 VPS9D1 VPS9 domain containing 1 ENCODES a protein that exhibits GTPase activator activity (inferred); transporter activity (inferred); INVOLVED IN ATP synthesis coupled proton transport (inferred); positive regulation of GTPase activity (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; clofibrate (ortholog); pirinixic acid (ortholog) 16 16 16 q24 74837975 74851643 - 89773541 89787398 - 89707133 89720986 - 6480464;8554872 10231027;12477932;16368877;18029348;19850743 9605 H3BM58;H3BNK1;H3BQI2;Q9Y2B5 AB018551;ABBA01014134;ABBA01014135;ABBA01014136;AC010538;AI458261;AMYH02032680;BC052626;BM920493;BY795348;CA428853;CH471184;NM_004913;XM_005256329;XM_005256330;XM_005256331;XM_006721350 AAI40443;AAI48702;BAA76711;EAW66694;EAW66695;EAW66696;NP_004904;Q9Y2B5;XP_005256386;XP_005256387;XP_005256388;XP_006721413 Hs.164410 5020274;5022588;5037552;5118444 D11S3316;D5S1597E;D8S2279;L18441 ATP-BL;C16orf7 ATP synthase, subunit b-like;VPS9 domain-containing protein 1;chromosome 16 open reading frame 7;hypothetical protein LOC9605;uncharacterized protein C16orf7 APPROVED protein-coding ENSG00000075399 HGNC:13526 08508 VALIDATED 1603690 VPS8 vacuolar protein sorting 8 homolog (S. cerevisiae) ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; potassium chromate 3 3 3 q27.2 182976573 183217415 + 184529925 184770402 + 184812137 185052614 + 6480464;8554872 12477932;14702039;15231748;15489334;16344560;20379614;21810271;24250222;9872452 23355 B3KPR6;C9JG07;C9JIA0;C9JJN9;C9JKL0;C9JP71;C9JPI1;F8WB24;H7C058;H7C1G7;H7C322;H7C3U0;H7C490;Q8N3P4 AB018347;ABBA01058429;ABBA01058430;ABBA01058431;ABBA01058432;ABBA01058433;AC025573;AC107294;AC117436;AK022945;AK056661;AK292423;AK309244;AL833838;AMYH02008313;AMYH02008314;AMYH02008315;AMYH02008316;AMYH02008317;AMYH02008318;BC001001;BC036005;BC140768;BI914013;BX647915;CH471052;DA218768;DA340096;NM_001009921;NM_015303;XM_005247251;XM_005247253;XM_006713556 AAH01001;AAI40769;BAA34524;BAB14322;BAF85112;BAG51778;CAD38698;CAH56195;EAW78233;EAW78234;NP_001009921;NP_056118;Q8N3P4;XP_005247308;XP_005247310;XP_006713619 Hs.269263 1682249;1701208;1701292;1707632;1717915;1747863;1784914;1852285;2133953;2134254;5091966 G66857;RH104232;RH104275;RH122785;RH93134;SHGC-32608;SHGC-77614;SHGC-77636;SHGC-84430;SHGC-84632;WI-11224 FLJ32099;KIAA0804 OTTHUMP00000210436;OTTHUMP00000210437;OTTHUMP00000210449;vacuolar protein sorting-associated protein 8 homolog protein-coding ENSG00000156931 HGNC:29122 11111 VALIDATED 7247360 VPS9D1-AS1 VPS9D1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin 16 16 16 q24.3 74842702 74848822 + 89778264 89784573 + 89711856 89718165 + 8554872 12477932;14702039 100128881 ABBA01014134;ABBA01014135;ABBA01014136;AC010538;AK096286;AMYH02032680;BC061904;HG508511;HG508512;NR_036480 Hs.666282 RP11-368I7.2 ncrna ENSG00000261373 HGNC:48915 VALIDATED 732193 VPS4A vacuolar protein sorting 4 homolog A (S. cerevisiae) The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 53859828 53873486 + 69345242 69358951 + 69311384 69325043 + 4892619;6480464;6907045 19535733 10393249;10931946;11031247;11559748;11563910;11931639;11937716;12417987;12477932;12594041;12860994;14505569;14505570;14602072;15075231;15489334;15632132;16174732;16730941;16757520;16841193;17110338;17553870;17601348;17725712;17853893;17913808;17928862;18606141;18621683;18976975;19129479;19199708;19403684;19524996;19615732;19640981;19828764;20164219;20339000;20427536;20616062;20621136;20805225;20972266;21139048;21248205;21304933;21394083;21394086;21494275;21543490;21762796;21841072;21890473;22004035;22216284;22231449;22268729;22754649;22762019;23000965;23009658;24107264;24268138;24814515 27183 Q9UN37 ABBA01025526;AC026464;AF112215;AF132747;AF155740;AF159063;AF255952;AF282903;AK000200;AK025850;AK315026;AL133634;AMYH02032276;BC013021;BC035121;BC047932;CH471092;NM_013245 AAD42971;AAD49227;AAF17203;AAG01470;AAH35121;AAH47932;AAK52408;AAL75948;ACE86581;BAA91005;BAG37514;CAB63758;EAW83261;EAW83262;EAW83263;EAW83264;NP_037377;Q9UN37 Hs.128420 1672573;5015741;5109549 D20S994;D21S1698;RH69710 FLJ22197;SKD1;SKD1A;SKD2;VPS4;VPS4-1;hVPS4 SKD1-homolog;vacuolar protein sorting factor 4A;vacuolar protein sorting-associated protein 4A;vacuolar sorting protein 4 APPROVED protein-coding HGNC:13488 11676 609982 REVIEWED 1342732 VRNI vitreoretinopathy, neovascular inflammatory ASSOCIATED WITH VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (inferred) 7240710 7445 HGNC:12720 193235 1346794 VRK3PS vaccinia related kinase 3 pseudogene 369009 HGNC:23021 1347442 VRTN vertebrae development associated ENCODES a protein that exhibits sequence-specific DNA binding (inferred); transposase activity (inferred); INVOLVED IN transposition, DNA-mediated (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; pirinixic acid; valproic acid 14 14 14 q24.3 54852482 54864028 + 74815166 74826711 + 74348463 74360008 + 6480464;8554872 12477932;14702039;15489334;18029348;21232157 55237 G3V537;Q9H8Y1 ABBA01030720;ABBA01030721;AC005519;AK001673;AK023213;AMYH02029517;BC053325;CH471061;CS300723;CX165172;NM_018228 AAH53325;BAA91826;BAB14466;CAK32387;EAW81173;NP_060698;Q9H8Y1 Hs.578167 1757193 SHGC-144610 C14orf115;FLJ10811 OTTHUMP00000245448;hypothetical protein LOC55237;vertebrae development homolog (pig);vertnin APPROVED protein-coding ENSG00000133980 HGNC:20223 16593 VALIDATED 1347101 VSIG1 V-set and immunoglobulin domain containing 1 This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q22.3 107759672 107793886 + 107288160 107322414 + 108044970 108079184 + 737633;6480464 12477932 16405301;22095633 340547 C9JY48;Q86XK7 ABBA01035969;ABBA01035970;ABBA01035971;ABBA01035972;AK292472;AK301311;AK301783;AK315846;AL031177;AL953860;AMYH02040220;BC043216;BK005767;BX640913;BX648658;CH471120;JA738621;NG_016264;NM_001170553;NM_182607;XM_005262127 AAH43216;BAF85161;BAF98737;BAG62862;BAG63239;CAE45954;CAH56142;CCF76963;DAA05750;EAX02699;NP_001164024;NP_872413;Q86XK7;XP_005262184 Hs.177164 5015961;5037552;5109281 D15S1477;D1S1425;D8S2279 1700062D20Rik;GPA34;MGC44287;dJ889N15.1 OTTHUMP00000023820;V-set and immunoglobulin domain-containing protein 1;cell surface A33 antigen;glycoprotein A34 APPROVED protein-coding ENSG00000101842 HGNC:28675 06655 300620 REVIEWED 1607028 VSIG10 V-set and immunoglobulin domain containing 10 FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; paracetamol 12 12 12 q24.23 118131984 118172906 - 118501398 118541810 - 118063593 118104005 - 6480464 12477932;14702039;16344560;19322201;21906983;23251661 54621 F5H724;Q8N0Z9 ABBA01020048;ABBA01020049;AC026366;AC131238;AK000681;AK094977;AMYH02027325;AMYH02027326;AMYH02027327;AMYH02027328;BC001437;BC028698;BC034471;CH471054;DA995625;DB174919;NM_019086;XM_005253908;XM_006719467;XM_006719468;XR_243018 AAH28698;AAH34471;BAA91322;EAW98119;EAW98120;EAW98121;NP_061959;Q8N0Z9;XP_005253965;XP_006719530;XP_006719531 Hs.187624 1781498;1782594;2147351;2147353;2177007 A005Q47;G20427;RH44532;SHGC-141508;SHGC-141509 FLJ20674;MGC1013 OTTHUMP00000239575;V-set and immunoglobulin domain-containing protein 10 APPROVED protein-coding ENSG00000176834 HGNC:26078 07941 VALIDATED 1344618 VSIG2 V-set and immunoglobulin domain containing 2 FOUND IN integral component of plasma membrane (inferred); membrane (inferred); INTERACTS WITH atrazine; quercetin; bisphenol A (ortholog) 11 11 11 q24 121777547 121782286 - 124617370 124622109 - 124747472 124752585 - 1580863;6480464 12477932;12975309;14702039;15340161;15489334;17192395;20659327;9862345 23584 Q96IQ7 ABBA01031254;AF061022;AK000460;AMYH02025724;AP000866;AY358897;BC007313;BC012567;CH471065;NM_014312;XM_006718806;XR_428973 AAD17522;AAH07313;AAQ89256;ABW03533;ABW03837;BAA91179;EAW67595;EAW67596;EAW67597;NP_055127;Q96IQ7;XP_006718869 Hs.112377 1853260;2118266;2148026 RH18180;STS-R69114;WI-16853 2210413P10Rik;CTH;CTXL CT-like protein;OTTHUMP00000197171;OTTHUMP00000197172;V-set and immunoglobulin domain-containing protein 2;cortical thymocyte receptor (X. laevis CTX) like;cortical thymocyte-like protein protein-coding ENSG00000019102 HGNC:17149 08390 606011 PROVISIONAL 1314472 VRK1 vaccinia related kinase 1 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008] 14 14 14 q32 77319099 77403366 + 97263684 97347951 + 96797347 96881614 + 1580863;6480464;7240710;8554872;8699517 10083742;10747897;10951572;11709713;11883897;12477932;14645249;14747564;15105425;15378002;15489334;15542844;15635413;16547155;16782868;17617371;17689819;17938195;17951261;18029348;18257281;18286197;18612383;18617507;18713830;19103756;19505873;19646678;21139048;21386980;21507922;21543316;21890473;21906983;21920476;21963094;22194607;22505724;22621922;22939629;23082977;23223570;23455922;23602568;24126608;24492002;24797263;24816145;9344656 7443 H0YJ50;H0YJF7;H0YJJ9;Q99986 AB000449;ABBA01048581;AK290110;AL133168;AMYH02029810;BC005970;BC103761;BC112075;BC113510;BU535261;CA436761;CH471061;NG_016293;NM_003384;XM_005268041;XM_006720247 AAI03762;AAI12076;AAI13511;BAA19108;BAF82799;EAW81653;EAW81654;NP_003375;Q99986;XP_005268098;XP_006720310 Hs.422662 1663409;1668683;1677858;5106413 RH44891;RH48802;RH80743;SHGC-33619 MGC117401;MGC138280;MGC142070;PCH1;PCH1A OTTHUMP00000246088;serine/threonine-protein kinase VRK1;vaccinia virus B1R-related kinase 1;vaccinia-related kinase 1 APPROVED protein-coding ENSG00000100749 HGNC:12718 03701 602168;607596 REVIEWED 1354021 VSIG4 V-set and immunoglobulin domain containing 4 This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X X q12-q13.3 65588725 65607111 - 65241580 65259967 - 66021738 66040125 - 1580863;6480464 11004523;11997108;12477932;12975309;15340161;15342556;15489334;16009265;16303743;16530040;16882875;17016555;17016562;17051150;18029348;18727628;18752851;19797726;19914289;20399148;21768202;21832049;21988832;23284715;23383108;24349325;24862966 11326 H7C062;Q9Y279 ABBA01067079;ABBA01067080;ABBA01067081;ABBA01067082;ABBA01067083;AJ132502;AK075153;AK075171;AK293215;AK297050;AK298389;AK301417;AL034397;AL542949;AL552873;AL553835;AMYH02039615;AMYH02039616;AMYH02039617;AY358341;BC010525;BP292528;BX482258;CA310184;CA405669;CH471132;CQ789678;GM881262;GM881264;HC190740;HC190742;NG_021306;NM_001100431;NM_001184830;NM_001184831;NM_001257403;NM_007268 AAH10525;AAQ88707;ABM82696;ABM85879;BAG52076;BAG56754;BAG59576;BAG60624;BAG62947;CAB51536;CAG24387;CAV28320;CAV28321;CBI69253;CBI69254;EAX05393;EAX05394;EAX05395;NP_001093901;NP_001171759;NP_001171760;NP_001244332;NP_009199;Q9Y279 Hs.8904 1648174;1665709;2108993;2142621 A004A09;DXS7023E;DXS9792;VSIG4_9263 CRIg;Z39IG Ig superfamily protein;OTTHUMP00000023439;OTTHUMP00000023441;OTTHUMP00000023442;V-set and immunoglobulin domain-containing protein 4;complement receptor of the immunoglobulin superfamily APPROVED protein-coding ENSG00000155659 HGNC:17032 02286 300353 REVIEWED 1602403 VSIG6 V-set and immunoglobulin domain containing 6 FOUND IN extracellular region (inferred) 15 q11.2 19963000 19963816 - 388078 AC010760;XM_370835 A6NJ16;XP_370835 protein-coding HGNC:32352 1350616 VRK3 vaccinia related kinase 3 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 19 q13 47348980 47398065 - 50479724 50529274 - 49976467 50026017 - 1580863;6480464;8554872 12477932;14645249;15489334;17353931;18617507;21890473;21900206;23082977;24250222;8125298 51231 B4DGW1;M0QX88;M0QXD7;M0QXV1;M0QYA8;M0QYG0;M0QZ79;M0R025;M0R073;M0R164;M0R200;M0R3H2;Q8IV63 AB031052;ABBA01032905;ABBA01032906;AC011452;AF514788;AK074461;AK123892;AK125747;AK225154;AK292918;AK294802;AK303010;AK303529;AK311220;AMYH02036335;AV706241;BC003546;BC023556;BC095449;BG421578;CH471177;NM_001025778;NM_016440;XM_005258971;XM_005258972;XM_005258974;XM_006723237;XM_006723238;XR_243939 AAH23556;AAH95449;AAP47180;BAA90769;BAF85607;BAG57922;BAG64141;BAG64557;EAW52588;EAW52589;EAW52590;EAW52591;EAW52592;NP_001020949;NP_057524;Q8IV63;XP_005259028;XP_005259029;XP_005259031;XP_006723300;XP_006723301 Hs.443330 2171964;2177476;5014051;5015619;5015959;5020229;5021872;5022200;5022578;5022651;5037552;5107715 D10S2448;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;L17770;L18426;RH66373;STS-R49148;WI-15269;sY3084 inactive serine/threonine-protein kinase VRK3;serine/threonine-protein kinase VRK3;serine/threonine-protein pseudokinase VRK3;vaccinia-related kinase 3 APPROVED protein-coding ENSG00000105053 HGNC:18996 18289 REVIEWED 1603819 VSIG8 V-set and immunoglobulin domain containing 8 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN integral component of membrane (inferred); intracellular (inferred) 1 1 1 q23.2 132892533 132900874 - 159824106 159832447 - 159854316 159862657 - 6480464 12477932;19380743;19615732;22990118 391123 Q5VU13 ABBA01016617;AL590560;AMYH02002018;BC132893;BC132895;NM_001013661 AAI32894;AAI32896;ADR83364;CAH71106;NP_001013683;Q5VU13 Hs.647718 1663993 RH70397 OTTHUMP00000033460;V-set and immunoglobulin domain-containing protein 8 protein-coding ENSG00000243284 HGNC:32063 18404 VALIDATED 1323120 VRK2 vaccinia related kinase 2 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014] 2 2 2 p16.1 58116828 58230225 + 58273777 58387055 + 57907651 58159920 + 6480464 12477932;14645249;15489334;16344560;16495336;16704422;16963744;17709393;18286207;18612383;18617507;19141289;19571808;20679487;20936779;21139048;21791550;21829721;21906983;21920476;21963094;22412018;22752157;22889411;22949513;23000965;23082977;23102693;23105117;23449449;23483238;24298020;24447338;8125298;9344656 7444 A8K9L2;E7ERS5;E9PBU1;Q86Y07 AB000450;ABBA01075306;ABBA01075307;ABBA01075308;AC007250;AC068193;AC073215;AJ512204;AK058199;AK223540;AK292727;AK295193;AK296611;AK307113;AK311205;AMYH02003885;AMYH02003886;AMYH02003887;AY228367;AY228368;AY228369;AY228370;AY228371;AY228372;BC021663;BC027854;BC036434;BI906749;CH471053;DA273734;DB227029;NG_029717;NM_001130480;NM_001130481;NM_001130482;NM_001130483;NM_001288836;NM_001288837;NM_001288838;NM_001288839;NM_006296;XM_005264540;XM_005264541;XM_006712090;XM_006712091;XM_006712092;XM_006712093 AAH21663;AAH27854;AAO73047;AAO73048;AAO73049;AAO73050;AAO73051;AAO73052;AAX93262;AAY14648;AAY15019;ABM81858;ABM85020;BAA19109;BAD97260;BAF85416;BAG59222;BAH12007;CAD54446;EAX00062;EAX00063;EAX00064;EAX00065;EAX00066;EAX00067;EAX00068;NP_001123952;NP_001123953;NP_001123954;NP_001123955;NP_001275765;NP_001275766;NP_001275767;NP_001275768;NP_006287;Q86Y07;XP_005264597;XP_005264598;XP_006712153;XP_006712154;XP_006712155;XP_006712156 Hs.715298;Hs.744058 1644000;1648059;1797196;2107079;2140251;2146765 D2S2913;FANCL__7636;RH66429;RH78793;SHGC-35879;VRK2 OTTHUMP00000159702;OTTHUMP00000201223;OTTHUMP00000201224;OTTHUMP00000225744;serine/threonine-protein kinase VRK2;vaccinia virus B1R-related kinase 2;vaccinia-related kinase 2;vaccinia-related kinase-2 APPROVED protein-coding ENSG00000028116 HGNC:12719 03702 602169 REVIEWED 737420 VSNL1 visinin-like 1 This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 p24.3 17601622 17717516 + 17721807 17837706 + 17540540 17656439 + 6480464 10520747;10851344;11579136;11592857;11930147;12196554;12200122;12202488;12445467;12477932;12681369;1375457;15489334;15735716;16189514;16703469;16713569;16731532;17615261;18301774;18691652;18922787;19034380;19063970;19065602;19674972;20079378;20347265;21169352;21823155;22005930;2202488;22052372;22331379;22357717;22832524;23800322;25019684;8530085;8780737;9109541 7447 E7ER47;E9PE24;P62760 AB001104;ABBA01018508;AC079839;AC097377;AF039555;AI143139;AK308816;AMYH02003340;AMYH02003341;BC022012;BF055598;BI544338;CH471053;NM_003385;U14747 AAA91295;AAD02174;AAH22012;AAX88850;AAY24036;ABM81726;ABM84881;BAA86891;EAX00870;EAX00871;EAX00872;EAX00873;EAX00874;EAX00875;NP_003376;P62760 Hs.444212 1667049;1675595;1734868;1783972;1790239;1853084;5020629;5020631;5023733 AU048745;BMON121;D2S1414;D2S1629E;D6Arb7;D6Rat38;RH80046;SHGC-133056;SHGC-63465 HLP3;HPCAL3;HUVISL1;VILIP-1;VLP-1 OTTHUMP00000115804;OTTHUMP00000200482;OTTHUMP00000200483;VILIP;hippocalcin-like protein 3;visinin-like protein 1 APPROVED protein-coding ENSG00000163032 HGNC:12722 02890 600817 REVIEWED 8662669 VSTM2A-OT1 VSTM2A overlapping transcript 1 ASSOCIATED WITH Melanoma (inferred) 7 7 p11.2 54624663 54639419 + 54556970 54571726 + 8554872 12477932;9847074 285878 ABBA01011844;AC011228;AC069313;AMYH02015727;BC037834;BI756787;HG500269;NR_038994 Hs.335933 GS1-18A18.1 ncrna HGNC:50770 VALIDATED 1604181 VSTM1 V-set and transmembrane domain containing 1 ENCODES a protein that exhibits cytokine activity (inferred); INVOLVED IN immune system process (inferred); FOUND IN extracellular space (inferred); integral component of membrane (inferred); INTERACTS WITH 3-methylcholanthrene 19 19 19 q13.42 51583732 51606871 - 54544079 54567207 - 54040825 54063953 - 6480464 11329013;12477932;12975309;15340161;15489334;20375307;23436183 284415 D2DJS5;D2DJS6;F5GZW9;G8JLN4;H7C340;Q6UX27 ABBA01068177;ABBA01068178;ABBA01068179;AC012314;AI457604;AMYH02036444;AY358542;BC100942;BC100943;BG189223;BQ446114;CH471135;DQ479397;FJ584316;FJ584317;FJ584318;FJ584319;FJ584320;FJ882051;FN398145;NM_001288791;NM_001288792;NM_001288793;NM_198481;NR_110142;XR_430197;XR_430910;XR_430950;XR_430983;XR_431003;XR_431022;XR_431053;XR_431064;XR_431089;XR_431098 AAI00943;AAI00944;AAQ88906;ABF19807;ACU00108;ACU00109;ACU00110;ACU00111;ACU00112;ACZ51446;CAZ61324;EAW72173;NP_001275720;NP_001275721;NP_001275722;NP_940883;Q6UX27 Hs.444431 1812738;1819390;1824956;1826962;1827316;1831086;1831380;1832808;1832854;1833254;1833584;1834618;1834682;1836700;1840874;1844918;2040644;2040646;2040648;2040650;2040652;2040654;2040656;2040658;2040660;2040662;2040664;2040666;2040668;2040670;2040672;2040674;2040676;2040678;2040680;2040682;2040684;2040686;2040688;2040690;2040692;2040694;2040696;2040698;2040700;2040702;2040704;2040706;2040708;2040710;2040712;2040714;2040716;2040718;2040720;2040722;2040724;2040726;2040728;2040730;2040732;2040734;2040736;2040738;2040740;2040742;2040744;2103484;2103486;2103488;2103490;2103492;2103494;2103496;2103498;2103500;2103502;2103504;2103506;2103508;2103510 ECD07380;ECD10762;ECD13577;ECD14596;ECD14773;ECD16679;ECD16826;ECD17545;ECD17568;ECD17769;ECD17936;ECD18457;ECD18489;ECD19514;ECD21630;ECD23675;REN91356;REN91357;REN91358;REN91359;REN91360;REN91361;REN91362;REN91363;REN91364;REN91365;REN91366;REN91367;REN91368;REN91369;REN91370;REN91371;REN91372;REN91373;REN91374;REN91375;REN91376;REN91377;REN91378;REN91379;REN91380;REN91381;REN91382;REN91383;REN91384;REN91385;REN91386;REN91387;REN91388;REN91389;REN91390;REN91391;REN91392;REN91393;REN91394;REN91395;REN91396;REN91397;REN91398;REN91399;REN91400;REN91401;REN91402;REN91403;REN91404;REN91405;REN91406;stSG605740;stSG605741;stSG605742;stSG605743;stSG605744;stSG605746;stSG605747;stSG605748;stSG605749;stSG605752;stSG605753;stSG605754;stSG605755;stSG605756 MGC119160;MGC119161;SIRL-1;SIRL1;UNQ3033 LAIR homolog;OSCAR-like transcript-1;OTTHUMP00000067374;OTTHUMP00000067382;V-set and transmembrane domain-containing protein 1;signal inhibitory receptor on leukocytes-1 protein-coding ENSG00000189068 HGNC:29455 15615 VALIDATED 1626689 VSTM2B V-set and transmembrane domain containing 2B ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); cadmium dichloride (ortholog) 19 19 19 q12 26715235 26753005 + 30017491 30055458 + 29526584 29564551 + 6480464;8554872 15057824;19240061;21441570;23568457 342865 A6NLU5 ABBA01039541;ABBA01039542;AC011474;AMYH02035875;AMYH02035876;NM_001146339;XM_005258856 A6NLU5;NP_001139811;XP_005258913 Hs.451618 1715635;2168345 RH119262;SHGC-33351 V-set and transmembrane domain-containing protein 2B protein-coding ENSG00000187135 HGNC:33595 VALIDATED 1313925 VSTM2L V-set and transmembrane domain containing 2 like INTERACTS WITH benzo[a]pyrene; calcitriol; cyclosporin A 20 20 20 q11.23 33238553 33280802 + 36531499 36573752 + 37903097 37945350 + 6480464 11553796;11780052;12477932;14702039;15489334;16713569;21393573 128434 Q96N03 ABBA01006631;ABBA01006632;ABBA01006633;ABBA01006634;AK056177;AL109964;AL834410;AMYH02037053;BC033818;BE905791;CH471077;NM_080607 AAH33818;ADZ15799;BAB71113;CAD39072;EAW76051;EAW76053;NP_542174;Q96N03 Hs.517029 1644026;1659575;1704650 D20S429;SHGC-77954;STS-R38512 C20orf102;dJ1118M15.2 OTTHUMP00000030945;OTTHUMP00000030947;V-set and transmembrane domain-containing protein 2-like protein protein-coding ENSG00000132821 HGNC:16096 12735 VALIDATED 2301112 VSTM5 V-set and transmembrane domain containing 5 FOUND IN integral component of membrane (inferred) 11 11 11 q21 90845176 90875111 - 93553735 93583668 - 93820569 93850502 - 16554811 387804 A8MXK1;H0Y3Q1 ABBA01040039;AMYH02025367;AP001894;CH471065;DY654877;DY655155;NM_001144871 A8MXK1;EAW66922;NP_001138343 Hs.512252 1679571;1682087;1737635;1751135;2151324 D11S2057;D11S3233;RH65009;RH70426;SHGC-105037 C11orf90 OTTHUMP00000205194;Uncharacterized protein ENSP00000381277;V-set and transmembrane domain-containing protein 5;hypothetical protein LOC387804 APPROVED protein-coding HGNC:34443 VALIDATED 3440350 VSIG10L V-set and immunoglobulin domain containing 10 like FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; quercetin 19 19 19 q13.41 48886398 48896982 - 51834795 51845378 - 51331541 51342124 - 6480464 12477932 147645 M0R380;Q86VR7 ABBA01068275;ABBA01068276;AC008750;AC063977;AF086436;AMYH02036379;BC016993;BC032383;BC049212;BC131493;NM_001163922 AAH49212;AAI31494;NP_001157394;Q86VR7 Hs.293236 1775092 SHGC-57988 V-set and immunoglobulin domain-containing protein 10-like protein-coding ENSG00000186806 HGNC:27111 PROVISIONAL 1348218 VSX2 visual system homeobox 2 This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009] 14 14 14 q24.3 54743463 54766749 + 74706175 74729441 + 74239472 74262738 + 734779;1580863;6480464;8554872;8699517 10932181 11069920;12477932;12508121;15257456;15647262;15909363;16236706;17661825;18029348;18385794;18514541;18648522;19638341;1973146;19843539;20057906;20301552;20414678;20494911;20565746;21976963;9847074 338917 P58304 ABBA01030724;ABBA01030725;ABBA01030726;AC005519;AC006349;AMYH02029514;AY336059;BC128153;CH471061;NG_013092;NM_182894 AAI28154;AAQ01593;EAW81163;EAW81164;NP_878314;P58304 Hs.449771 1740679;1740681 D14S1175;D14S1271 CHX10;HOX10;MCOP2;MCOPCB3;RET1 OTTHUMP00000245436;ceh-10 homeo domain containing homolog;ceh-10 homeo domain containing homolog (c. elegans);ceh-10 homeodomain-containing homolog;homeobox protein CHX10 APPROVED protein-coding ENSG00000119614 HGNC:1975 08852 142993 REVIEWED 8655272 VTA1P2 vesicle (multivesicular body) trafficking 1 pseudogene 2 8 8 8 q21.3 84782595 84783450 - 88587879 88588734 - 87575651 87576506 - 100128412 ABBA01037374;AF121898;AMYH02018371;NG_022395 pseudo HGNC:50484 INFERRED 1313832 VSX1 visual system homeobox 1 The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 25129909 25136577 - 25051521 25063015 - 25070885 25082379 - 1599773;1580863;6480464;7240710;8554872;8657052;8699517;8657045;8657029;8657036;8657037;8657034;8657032 11978762;15051220;15623752;16384943;17960127;18216574;18626569;21976959 10673340;10903837;11780052;12477932;15489334;15647262;16799019;17122109;18253095;18484309;19011015;19507099;19763142;19956409;20023586;20379614;20664914;21139977;21365019;21403853;21437200;22171159;22531431;23289806;23506487;23592923;24107477;8889548 30813 Q9NZR4 ABBA01048732;AF176797;AF251033;AF251034;AL080312;AMYH02036843;BC126228;BC136497;BM680858;BM712470;CH471133;DQ854807;DQ854808;DQ854809;DQ854810;DQ854811;DQ854812;NG_008101;NM_001256271;NM_001256272;NM_014588;NM_199425;NR_045948;NR_045951 AAF37425;AAF99656;AAF99657;AAI26229;AAI36498;ABI23973;ABI23974;ABI23975;ABI23976;ABI23977;ABI23978;EAX10104;EAX10105;NP_001243200;NP_001243201;NP_055403;NP_955457;Q9NZR4 Hs.274264 KTCN;KTCN1;PPCD;PPCD1;PPD;RINX CAASDS;OTTHUMP00000030468;OTTHUMP00000205188;OTTHUMP00000205189;OTTHUMP00000205190;OTTHUMP00000205191;OTTHUMP00000205192;homeodomain protein RINX;retinal inner nuclear layer homeobox protein;transcription factor VSX1;visual system homeobox 1 homolog, CHX10-like APPROVED protein-coding ENSG00000100987 HGNC:12723 09232 122000;148300;605020;614195 REVIEWED 1312819 VTA1 vesicle (multivesicular body) trafficking 1 C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008] 6 6 6 q24.1 143208886 143282564 + 142468372 142542085 + 142147162 142220948 + 6480464;6907045 11031247;11042152;11230166;11489251;11984006;12477932;14702039;15173323;15489334;15644320;16189514;16730941;16777077;17261583;19056867;19129479;19129480;19322201;19738201;20164219;20358264;20368287;20881960;21060863;21139048;21543490;21832049;21988832;22863883;22939629;23105106;23400010;24816145;8619474;9110174 51534 Q5TGM0;Q9NP79 ABBA01025757;ABBA01025758;AF060225;AF141341;AF151062;AF271994;AJ420507;AK000051;AK130738;AK301376;AL033522;AL136684;AMYH02014624;AMYH02014625;AMYH02014626;AMYH02014627;AY007093;BC005937;BC006989;BC013217;BC022536;BM806661;CH471051;CR457207;DA299959;KF458307;NM_001286371;NM_001286372;NM_016485 AAF36148;AAF76210;AAG43125;AAG49444;AAH05937;AAH06989;AAH22536;ABM84446;ABM87503;BAA90909;BAG62917;CAB66619;CAG33488;EAW47883;EAW47884;EAW47885;NP_001273300;NP_001273301;NP_057569;Q9NP79 Hs.431367 1701286;1721963;1723661;2143274;2150394;2157238;2164151;2178762;5108188 A004F48;D6S1181E;D6S1192E;G30318;G59867;RH104272;RH118728;RH46769;RH46840 C6orf55;DRG-1;DRG1;FLJ27228;HSPC228;LIP5;My012;SBP1 LYST-interacting protein 5;OTTHUMP00000017318;OTTHUMP00000017319;SKD1-binding protein 1;Vps20-associated 1 homolog;chromosome 6 open reading frame 55;dopamine-responsive gene 1 protein;homolog of mouse SKD1-binding protein 1;vacuolar protein sorting-associated protein VTA1 homolog APPROVED protein-coding ENSG00000009844 HGNC:20954 09855 610902 VALIDATED 1604199 VSTM2A V-set and transmembrane domain containing 2A ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH all-trans-retinoic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 p11.2 54714731 54741659 + 54610019 54636948 + 54542315 54574114 + 6480464;8554872 12477932;12690205;15489334;17207965 222008 B5MCX6;F8W8J5;Q8TAG5 AB074160;ABBA01011843;ABBA01011844;AC011228;AC069313;AMYH02015727;BC028404;BC045679;BI458531;BI752069;BI754879;BI755592;BI758069;BQ639021;CH236957;CH471201;DN991717;DN991972;EY892386;NM_001301009;NM_182546;R40993;XM_006715663;XM_006715664;XM_006715665;XM_006715666 AAH28404;ADQ32694;EAL23809;EAW50952;EAW50953;EAW50954;NP_001287938;NP_872352;Q8TAG5;XP_006715726;XP_006715727;XP_006715728;XP_006715729 Hs.335933;Hs.731937 1650975;1735698;1762923;2131310;2165012;2187503;2190909 D7S2151E;D7S2824;MARC_11447-11448:1000476280:1;RH47359;SGC34528;SHGC-146677;WI-15640 MGC33530;VSTM2 OTTHUMP00000159589;OTTHUMP00000197700;OTTHUMP00000197701;V-set and transmembrane domain containing 2;V-set and transmembrane domain-containing protein 2A;hypothetical protein MGC33530 protein-coding HGNC:28499 14566 VALIDATED 1321317 VSTM4 V-set and transmembrane domain containing 4 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); plasma membrane (inferred); INTERACTS WITH 17beta-estradiol; fonofos; parathion 10 10 10 q11.23 43807921 43909146 - 50222333 50323559 - 49014245 49115532 - 6480464;8554872 12477932;14702039;15489334;16344560;16385451;20379614;21294900;21382349;23793025 196740 Q8IW00 ABBA01041076;ABBA01041077;ABBA01047231;AC060234;AC084727;AK001062;AK021993;AK056299;AK297931;AL080114;AMYH02022983;AMYH02022984;AW058485;BC017010;BC041414;CH471187;DA176757;DA920289;HY112498;NM_001031746;NM_144984;XM_006717689;XR_246075 AAH41414;BAB71142;BAG60248;EAW93115;EAW93116;NP_001026916;NP_659421;Q8IW00;XP_006717752 Hs.522928 1647872;1656633;1693812;1760247;2150405;2167283;5022200;5037552;5109362 D10S2216;D10S2381;D17S1239;D8S2279;L18426;RH48264;SHGC-132546;SHGC-35721;SHGC-56414 C10orf72;FLJ31737;MGC44086 OTTHUMP00000019569;OTTHUMP00000019570;V-set and transmembrane domain-containing protein 4;hypothetical protein LOC196740 APPROVED protein-coding ENSG00000165633 HGNC:26470 08503 VALIDATED 1606221 VTCN1 V-set domain containing T cell activation inhibitor 1 This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 1 p13.1 115914867 115982183 - 117686209 117753582 - 117143587 117210960 - 6480464 12477932;12796776;12818165;12818166;12920180;12975309;14568939;15146197;15878339;16344560;16606666;16782226;16785496;16798883;17051145;17498784;17509674;18376314;18676826;19116933;19788399;19903360;19954668;19955922;20038306;20499308;20725832;20731031;20872810;21120594;21190056;21378130;21478111;21519829;21748517;22013483;22323440;22530960;22613410;22910694;23147549;23318460;23455497;23660627;23722540;23873101;23973734;24125968;24280570;24326367;24347572;24658839;8125298 79679 Q5T2L0;Q7Z7D3 ABBA01068499;AI686571;AK026071;AK225413;AK303466;AK310812;AL391476;AMYH02001797;AY280972;AY346100;AY358352;AY442303;BC065717;BC074729;BX648021;CH471122;CN259811;DB198367;DC347131;DQ103757;DQ836392;NM_001253849;NM_001253850;NM_024626;NR_045603;NR_045604 AAH65717;AAH74729;AAP37283;AAQ24206;AAQ88718;AAS13400;AAZ17406;ABI16083;BAB15349;BAH13967;EAW56671;EAW56672;EAW56673;NP_001240778;NP_001240779;NP_078902;Q7Z7D3 Hs.546434 1655018;1693234;2135902;2159720;2178570 AL009459;AL033564;DXS7636;SHGC-1545;SHGC-75394 B7-H4;B7H4;B7S1;B7X;B7h.5;FLJ22418;PRO1291;RP11-229A19.4;VCTN1 B7 family member, H4;B7 superfamily member 1;OTTHUMP00000013947;OTTHUMP00000013948;T cell costimulatory molecule B7x;T-cell costimulatory molecule B7x;V-set domain-containing T-cell activation inhibitor 1;immune costimulatory protein B7-H4 APPROVED protein-coding ENSG00000134258 HGNC:28873 06429 608162 VALIDATED 5687891 VTI1BP2 vesicle transport through interaction with t-SNAREs 1B pseudogene 2 4 4 4 q35.1 181737352 181738418 + 184404503 184405569 + 183483350 183484416 + 9847074 389246 ABBA01070501;AC107214;AMYH02010638;NG_005181 APPROVED pseudo HGNC:43728 INFERRED 5687904 VTI1BP1 vesicle transport through interaction with t-SNAREs 1B pseudogene 1 3 3 3 q12.1 98334817 98335513 + 99944218 99944914 + 100225374 100226070 + 391559 ABBA01061795;AC129803;AMYH02007301;NG_022260 APPROVED pseudo HGNC:43727 INFERRED 736863 VTI1A vesicle transport through interaction with t-SNAREs 1A ENCODES a protein that exhibits SNAP receptor activity; INVOLVED IN retrograde transport, endosome to Golgi; ER to Golgi vesicle-mediated transport (ortholog); vesicle fusion with Golgi apparatus (ortholog); ASSOCIATED WITH Arthrogryposis multiplex congenita (inferred); Autosomal recessive inheritance (inferred); Cerebral atrophy (inferred); FOUND IN Golgi apparatus; clathrin-coated vesicle (ortholog); endosome (ortholog); INTERACTS WITH atrazine; benzo[a]pyrene; valproic acid 10 10 10 q25.2 107934279 108306193 + 114206756 114578503 + 112446998 112855364 + 1580863;6480464;8699517;7240710;8554872 11101518;11839770;12477932;12938929;15215310;15489334;16344560;16385451;17975119;18195106;19023099;19138172;19224922;20379614;21139048;21892161;21906983;21988832;22190034;23000965;23143601;23412934;23677696;24816145;9446565 143187 Q96AJ9 ABBA01063002;ABBA01063003;ABBA01063004;ABBA01063005;AC022018;AI610960;AI797732;AK303646;AL133323;AL139120;AL158212;AL512270;AMYH02023820;AMYH02023821;AMYH02023822;AMYH02023823;AMYH02023824;AMYH02023825;AMYH02023826;BC017052;BC067241;BI909044;CH471066;DA324398;DA472521;KF510328;NM_145206;XM_005269543;XM_005269544;XM_005269545;XM_005269546;XM_005269547;XM_005269548;XM_006717636;XM_006717637 AAH17052;ADZ15820;BAG64649;EAW49524;EAW49525;NP_660207;Q96AJ9;XP_005269600;XP_005269601;XP_005269602;XP_005269603;XP_005269604;XP_005269605;XP_006717699;XP_006717700 Hs.194554 1337592;1700248;1701426;1719269;1724201;1739597;1753393;1755059;1771572;1778940;1781914;1781946;1782050;2107761;2119768;2131344;2135916;2157632;2170741;2171023;2173835;2175263;2182649;5093956 A009Z29;CHLC.GGAT3D06;D10S1207;D10S1269;D10S1445;D11S4048E;G29168;G33022;L18447;RH103741;RH104345;RH121236;RH123356;RH1567;RH65359;SHGC-107210;SHGC-107221;SHGC-132763;SHGC-141998;SHGC-152845;STS-H51777;STS-T91988;VTI1A__5078;WI-14968 MMDS3;MVti1;VTI1RP2;Vti1-rp2 OTTHUMP00000020493;OTTHUMP00000194791;SNARE Vti1a-beta protein;vesicle transport through interaction with t-SNAREs homolog 1A;vesicle transport v-SNARE protein Vti1-like 2 APPROVED protein-coding ENSG00000151532 HGNC:17792 18290 614316;615330 VALIDATED 1352901 VTI1B vesicle transport through interaction with t-SNAREs 1B ENCODES a protein that exhibits SNARE binding; INVOLVED IN cell proliferation (inferred); intracellular protein transport (inferred); membrane fusion (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus; late endosome membrane; lysosomal membrane; INTERACTS WITH copper(2+) sulfate; cyclosporin A; heroin 14 14 14 q24.1 48176927 48200645 - 68113621 68141700 - 67651149 67674885 - 1580863;6480464;8554872 10683148;11101518;11252894;11278762;11786915;11839770;11927603;12067063;12114520;12175335;12477932;12853575;14769786;15371541;15489334;16169070;18570918;19224922;20089838;20562859;21139048;21562157;21674799;21890473;22875976;23000965;9446565;9636656 10490 G3V5I2;H0YJJ5;H0YJL5;J3KMW2;Q9UEU0 ABBA01023707;AF035824;AF060902;AK291689;AK310839;AK316572;AL049779;AMYH02029403;BC003142;BC042390;BI597967;BT019348;BT019960;CH471061;CR456757;CR542095;NM_006370 AAC52016;AAC73059;AAH03142;AAV38155;AAV38763;BAF84378;BAG38161;CAG33038;CAG46892;EAW80945;EAW80946;EAW80947;NP_006361;Q9UEU0 Hs.741177 1660435;1661399;1736472;1754183;1772621;1777644;1851799;2133381;2149917;2174071 A007B39;A008X14;D14S1294;D14S721E;RH44731;RH68231;SHGC-132208;SHGC-30820;WI-18578;WI-19297 VTI1;VTI1-LIKE;VTI1L;VTI2;v-SNARE;vti1-rp1 OTTHUMP00000245581;vesicle transport through interaction with t-SNAREs homolog 1B;vesicle transport v-SNARE protein Vti1-like 1;vesicle-associated soluble NSF attachment protein receptor APPROVED protein-coding HGNC:17793 04440 603207 VALIDATED 5687905 VTI1BP4 vesicle transport through interaction with t-SNAREs 1B pseudogene 4 9 9 9 102064082 102065238 + 131413277 131414429 + 128650998 128652150 + 100422540 AL356481;AMYH02021718;NG_023958;NG_034056 APPROVED pseudo HGNC:43730 INFERRED 5687906 VTI1BP3 vesicle transport through interaction with t-SNAREs 1B pseudogene 3 12 12 12 q13.13 53173027 53173664 + 53525134 53525771 + 53131350 53131987 + 100127976 ABBA01008314;AC073573;AMYH02026514;NG_021720 APPROVED pseudo HGNC:43729 INFERRED 1348253 VTNR vitronectin receptor 7449 HGNC:12725 1351150 VTRNA1-1 vault RNA 1-1 Vaults are large cytoplasmic ribonucleoproteins of about 13 MD. They are composed of a major vault protein, MVP (MIM 605088), 2 minor vault proteins, TEP1 (MIM 601686) and PARP4 (MIM 607519), and a nontranslated RNA component, VTRNA1-1 (Kickhoefer et al., 1999 [PubMed 10551828]).[supplied by OMIM, Mar 2009] 5 5 5 q31.3 136167609 136167706 + 140090861 140090958 + 140711276 140711373 + 10551828;19298825;19491402;21555518;9535882 56664 ABBA01026422;AC116353;AF045143;AMYH02012340;BD247418;NR_026703 HVG1;VAULTRC1;VR1;hvg-1;vRNA APPROVED ncrna ENSG00000199990 HGNC:12654 612695 PROVISIONAL 1347664 VTRNA1-2 vault RNA 1-2 5 5 5 q31.3 136175259 136175346 + 140098511 140098598 + 140718926 140719013 + 10551828;19298825;19491402;21555518;9535882 56663 ABBA01026422;AC116353;AF045144;AMYH02012340;BD247419;NR_026704 HVG2;VAULTRC2;VR2;hvg-2 ncrna ENSG00000202111 HGNC:12655 612696 PROVISIONAL 1347028 VTRNA1-3 vault RNA 1-3 5 5 5 q31.3 136182493 136182580 + 140105744 140105831 + 140726159 140726246 + 19298825;19491402;9535882 56662 ABBA01026422;AC116353;AF045145;AMYH02012341;NR_026705 HVG3;VAULTRC3;VR3;hvg-3 ncrna ENSG00000202515 HGNC:12656 612697 PROVISIONAL 2290254 VTRNA2-1 vault RNA 2-1 INTERACTS WITH arecoline 5 5 5 q31.1 131540929 131541028 - 135416187 135416286 - 136080498 136080597 - 6480464 16381832;17478510;17604727;19298825;19491402;20413673;21179442;21518807;21998631;22058117;22764244;22926522;22986343;23592755 100126299 ABBA01068719;AC005219;AMYH02012261;NR_030583 CBL-3;CBL3;MIR886;MIRN886;VTRNA2;hsa-mir-886;hvg-5;nc886 APPROVED ncrna ENSG00000278815 HGNC:37054 614938 VALIDATED 2292049 VTRNA3-1P vault RNA 3-1, pseudogene X X X p11.22 57320715 57320815 + 53489151 53489251 + 53462210 53462310 + 10551828;12758122;19298825;19491402;19839995;9535882 100144435 ABBA01056419;AC233728;AMYH02039464;BD247421;NG_007501;Z97054 2185623 DXS9723 FLJ20516;HVG4;HVGX;VAULTRC4;VTRNA3P;hvg-4 APPROVED pseudo HGNC:23027 INFERRED 736955 VTN vitronectin The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. [provided by RefSeq, Jul 2008] 17 17 17 q11 23556056 23559131 - 26694298 26697373 - 28367277 28370352 - 1580814;1580815;1580816;1580817;1580818;1580863;5129484;6480464;6484113;6907045 12126637;12913402;15069014;15678274;20510197;7536680 10022831;10329419;10342887;10586957;10835423;10887113;11113116;11156415;11419941;11437656;11744726;11751588;11756447;11785953;11796716;11796824;11864711;12019263;12071840;12091360;12437099;12477932;12565847;12757937;12808446;12810534;1372588;1377736;14586734;14681059;14718574;14760718;15123712;15123885;15140223;15489334;15641781;15717924;15777802;15799029;15843372;15905170;15914035;16195248;1632457;16335952;16502470;16785539;16807684;16815299;1694173;1695900;1696913;1704366;1706595;17081983;1709100;17344041;17766387;18174166;18200066;18340378;18362146;18376415;18516040;18624398;18658131;18781095;18842294;19118218;19162023;19193026;19199708;19267251;19288063;19408099;19635912;19657137;19730683;19893454;19913121;19998373;20031688;20066177;20121701;20195466;20199596;20358426;20492459;20502634;20600001;20628086;21048021;21193465;21253761;21316840;21542857;21800006;21832049;21988832;22050461;22810367;22939629;23041018;23124223;23327926;23387957;23474333;23603906;23722547;23811340;23867815;2414098;2418831;2433863;24371140;24457600;2447940;2448300;2454751;24603119;2475499;2479556;3004934;6210287;631332;7490129;7518183;7522053;7522689;7545318;7559467;7682219;7690138;8120056;8567871;8626514;8663085;8830783;8837777;8900153;8920805;9030777;9065424;9151113;9443892;9718986;9733784 7448 D9ZGG2;P04004 ABBA01015060;AC002094;AF382388;AI352496;AK298441;AK312968;AMYH02033222;BC005046;BG470977;BI758517;CH471159;HM015600;NM_000638;X03168;X05006 AAH05046;AAK60270;ABM84320;ABM87715;ADL14521;BAG35807;BAH12789;CAA26933;CAA28659;EAW51082;NP_000629;P04004 Hs.2257 1678371;1682197;1689139;1694928;1741909;1790371 G44355;GDB:186726;RH11584;RH12566;RH39314;VTN V75;VN;VNT OTTHUMP00000163323;S-protein;complement S-protein;epibolin;serum spreading factor;serum-spreading factor;somatomedin B;vitronectin (serum spreading factor, somatomedin B, complement S-protein) APPROVED protein-coding HGNC:12724 01902 193190 REVIEWED 1603244 VWA2 von Willebrand factor A domain containing 2 This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013] 10 10 10 q25.3 109728184 109778935 + 115999013 116054259 + 114239254 114294500 + 6480464;8554872 10737800;12477932;14506275;15580307;15699509;16344560;16385451;18434322;18492952;19199708;21385852;22685543 340706 Q5GFL6 ABBA01062980;ABBA01062981;ABBA01062982;AC005383;AC022023;AI870708;AJ536328;AJ616914;AK122716;AK127756;AMYH02023849;AMYH02023850;AY572972;AY572973;BC128588;BC143380;BF355787;BF754676;BF802655;BF849816;CA487263;CH471066;DA170480;DB210781;DB349964;NM_001272046 AAI28589;AAT77225;AAT77226;BAC85505;BAC87116;CAD60276;CAE83814;EAW49475;NP_001258975;Q5GFL6 Hs.197741 1298177;1705520;1759029;5016596;7184188;7185481;7185938 D10S16;D10S554;GDB:631802;SHGC-2018;SHGC-83858 CCSP-2;MGC157755;NET42 A-domain containing protein similar to matrilin and collagen;AMACO;OTTHUMP00000020524;OTTHUMP00000043931;a domain-containing protein similar to matrilin and collagen;colon cancer diagnostic marker;colon cancer secreted protein 2;colon cancer secreted protein-2;von Willebrand factor A domain-containing protein 2 protein-coding HGNC:24709 16481 REVIEWED 1641961 VWA3A von Willebrand factor A domain containing 3A FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; copper(2+) sulfate; hydroquinone O-beta-D-glucopyranoside 16 16 16 p12.2 20883746 20948192 + 22019462 22168287 + 22092087 22156966 + 6480464 11181995;12477932;14702039;16344560 146177 A6NCI4;H3BTG8;H3BTX3;H3BUS3;H7BXL8 ABBA01003846;ABBA01003847;ABBA01003848;ABBA01003849;AC009019;AC241411;AC243828;AK093467;AK098260;AK128606;AK307544;AY360464;BC038400;BC109294;BC109295;CH471249;DA102773;DA240074;DA317287;NG_034015;NM_173615;XM_006721021 A6NCI4;AAH38400;AAI09296;AAQ62968;BAC04176;BAC05271;BAC87526;EAW50597;EAW50598;EAW50599;EAW50600;NP_775886;XP_006721084 Hs.10697 1664748;1768862 RH78975;SHGC-37352 FLJ40941;FLJ46765 von Willebrand factor A domain-containing protein 3A protein-coding ENSG00000175267 HGNC:27088 VALIDATED 1603168 VWA3B von Willebrand factor A domain containing 3B ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; lead diacetate (ortholog); pirinixic acid (ortholog) 2 2 2 q11.2 92907511 93133132 + 98703595 98929410 + 98087132 98312947 + 6480464;8554872 12477932;14702039;16344560;17452356;20379614 200403 B7Z7Q7;F8W737;F8WBX4;F8WD48;F8WD56;H0YCW7;H0YDS6;H0YEM4;H0YF54;Q502W6 ABBA01073968;ABBA01073969;ABBA01073970;AC018691;AC092675;AC112788;AK057248;AK090786;AK093084;AK098841;AK292397;AK295743;AK302390;AL832635;AL832761;AL834173;AL834385;AMYH02004382;AMYH02004383;AMYH02004384;BC022028;BC026091;BC095480;BC150653;CH471127;DB090320;EF491791;EF491813;KF456688;NM_144992;XM_005263897;XM_006712356;XM_006712357;XM_006712358;XM_006712359;XM_006712360;XR_244881 AAH22028;AAH95480;AAI50654;AAY24027;AAY24180;BAC03518;BAC04047;BAC05431;BAF85086;BAH12174;BAH13693;CAD38871;CAD39048;CAD89964;EAX01912;EAX01913;EAX01914;NP_659429;Q502W6;XP_005263954;XP_006712419;XP_006712420;XP_006712421;XP_006712422;XP_006712423 Hs.269977 1338303;1703766;1757297;1783930;2126509 D2S2175;SHGC-111733;SHGC-144701;SHGC-83203;T16066 FLJ32686;MGC26733 OTTHUMP00000214154;von Willebrand factor A domain-containing protein 3B protein-coding ENSG00000168658 HGNC:28385 14510 PROVISIONAL 1323359 VWA5A von Willebrand factor A domain containing 5A ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin; arsenite(3-); benzo[a]pyrene 11 11 11 q24.1 121145259 121176768 + 123986111 124017619 + 124115404 124146912 + 1302758;1580863;6480464;8554872 9417908 12477932;14504409;15489334;18029348;19656157;20972266;21782286;21803008;21832049;21963094;21987572;22594792;22939629;23251661;8889548 4013 B4DHS6;O00534 ABBA01031263;AF002672;AK291698;AK295247;AK314934;AMYH02025719;AP000818;AY366501;AY366503;AY366504;AY366505;AY366506;AY366507;AY366508;BC001234;BM990294;BT006655;CB243896;CH471065;KF455551;NM_001130142;NM_014622;NM_198315 AAB60942;AAH01234;AAP35301;AAQ94867;AAQ94868;AAQ94869;AAQ94871;AAQ94872;AAQ94873;AAQ94874;AAQ94875;AAQ94876;BAF84387;BAG37440;BAG58238;EAW67570;EAW67571;EAW67572;EAW67573;NP_001123614;NP_055437;NP_938057;O00534 Hs.152944 2108205;2124990 LOH11CR2A_8439;STS-N22577 BCSC-1;BCSC1;LOH11CR2A OTTHUMP00000231621;OTTHUMP00000231622;OTTHUMP00000231623;OTTHUMP00000231626;breast cancer suppressor candidate 1;loss of heterozygosity 11 chromosomal region 2 gene A protein;loss of heterozygosity, 11, chromosomal region 2, gene A;ortholog of mouse AW551984;von Willebrand factor A domain-containing protein 5A protein-coding ENSG00000110002 HGNC:6658 04238 602929 VALIDATED 1606163 VWA5B1 von Willebrand factor A domain containing 5B1 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chlorpyrifos (ortholog) 1 1 1 p36.12 18940501 19004478 + 20617412 20681662 + 20290919 20355169 + 6480464;8554872 12477932;14702039;16344560;20379614 127731 E7EM39;E9PMB3;E9PNX8;E9PP07;E9PQ62;H0YED8;Q5TIE3 ABBA01059776;ABBA01059777;AK057346;AK125833;AK295797;AL020998;AMYH02000429;BC101378;BC101379;BC101380;BC101381;CH471134;DA806846;NM_001039500;XM_006710360 AAI01379;AAI01380;AAI01381;AAI01382;BAB71439;BAC86312;BAG58617;EAW94921;NP_001034589;Q5TIE3;XP_006710423 Hs.205178 1341357;1759615;2144716;5016781;5037552 AL009820;D1S2732;D8S2279;SHGC-150963;SHGC-67307 FLJ32784;FLJ43845 OTTHUMP00000002878;von Willebrand factor A domain-containing protein 5B1 protein-coding ENSG00000158816 HGNC:26538 08732 VALIDATED 1603968 VWA1 von Willebrand factor A domain containing 1 VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010] 1 1 1 p36.33 1201090 1208450 - 1370903 1378262 + 1435523 1442882 + 6480464 12062410;12477932;14527666;14702039;16407285;16502470;17187823;19199708;20971096;23300779;23523902 64856 J3QLP3;J3QRR0;Q6PCB0 ABBA01016042;ABBA01016043;ABBA01016044;AK025868;AK075366;AK096773;AK291557;AL137722;AL391244;AMYH02000098;BC003543;BC059409;BG370349;BQ100861;BU949921;CH471183;DB452905;NM_022834;NM_199121 AAH03543;AAH59409;BAB15264;BAF84246;BAG53363;EAW56197;EAW56198;EAW56199;EAW56200;EAW56201;NP_073745;NP_954572;Q6PCB0 Hs.449009 1678111;1712268;1766709;2127011;2167843 G54042;RH47517;RH80201;SHGC-149988;SHGC-74099 DKFZp761O051;FLJ22215;VWA-1;WARP OTTHUMP00000003018;OTTHUMP00000220538;von Willebrand factor A domain-containing protein 1;von Willebrand factor A domain-related protein APPROVED protein-coding ENSG00000179403 HGNC:30910 18292 611901 VALIDATED 2300034 VWA5B2 von Willebrand factor A domain containing 5B2 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); C60 fullerene (ortholog) 3 3 3 q27.1 182389082 182400881 + 183948317 183960117 + 184229682 184242329 + 6480464;8554872 12477932;15231747;22472876 90113 E9PF42;Q8N398;Q9BVH8 ABBA01058452;ABBA01058453;ABBA01058454;AC061705;AK293885;AL834499;AMYH02008305;BC001200;BC009862;BC136609;DC308467;DC310771;NM_138345;XM_006713818;XM_006713819 AAH01200;AAI36610;BAG57274;CAD39157;NP_612354;Q8N398;XP_006713881;XP_006713882 Hs.584997 1709114;2146651 RH118405;SHGC-85715 OTTHUMP00000210691;OTTHUMP00000210692;von Willebrand factor A domain-containing protein 5B2 protein-coding ENSG00000145198 HGNC:25144 PROVISIONAL 6893185 VWA8-AS1 VWA8 antisense RNA 1 (head to head) 13 13 13 23592982 23613378 + 42535305 42555701 + 41961169 41981565 + 14702039;8889548 100507240 ABBA01021262;AK092199;AL442203;AMYH02027928;CA310831;LK938496;LK938497;NR_039974 Hs.147766 ncrna ENSG00000278338 HGNC:44270 VALIDATED 1342662 VWA7 von Willebrand factor A domain containing 7 ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH atrazine; aflatoxin B1 (ortholog); cadmium dichloride (ortholog) 6 6 6 p21.33 33331616 33343354 - 31733178 31745108 - 31765401 31777331 - 6480464;8554872 10803853;11261934;12477932;14574404;14656967;19143814;19204726;19851445;20466734;21145461;8812450 80737 Q9Y334 ABBA01038086;AF134726;AJ245418;AK304058;AK304266;AL662834;AL662899;AMYH02013453;AMYH02013454;AMYH02013455;BA000025;BC114625;BX248133;CH471081;CR759787;CR759915;CR925765;DC323829;NM_025258;XM_005249427;XM_005249428;XM_005249429;XM_005272904;XM_005272905;XM_005272906;XM_005274894;XM_005274895;XM_005274896;XM_005275059;XM_005275060;XM_005275061;XM_005275316;XM_005275317;XM_005275318;XM_005275620;XM_005275621;XM_005275622;XM_006715220;XM_006725050;XM_006725529;XM_006725748;XM_006725944;XM_006726133 AAD21820;AAI67823;BAB63304;BAG64965;BAG65129;CAB52192;EAX03521;EAX03522;NP_079534;Q9Y334;XP_005249484;XP_005249485;XP_005249486;XP_005272961;XP_005272962;XP_005272963;XP_005274951;XP_005274952;XP_005274953;XP_005275116;XP_005275117;XP_005275118;XP_005275373;XP_005275374;XP_005275375;XP_005275677;XP_005275678;XP_005275679;XP_006715283;XP_006725113;XP_006725592;XP_006725811;XP_006726007;XP_006726196 Hs.558553 2120622 RH47649 C6orf27;FLJ25524;G7c;NG37 OTTHUMP00000029181;von Willebrand factor A domain-containing protein 7 APPROVED protein-coding ENSG00000204396 HGNC:13939 12880 609693 VALIDATED 1603838 VWC2 von Willebrand factor C domain containing 2 This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009] 7 7 7 p12.2 49907441 50046308 + 49813257 49961546 + 49773661 49921951 + 6480464;8554872 12477932;12975309;17400546;17483092 375567 Q2TAL6 AB292671;ABBA01008173;ABBA01008174;AC034145;AC093775;AMYH02015683;AMYH02015684;AMYH02015685;AY358393;BC110857;CH236955;CH471128;NM_198570;XR_242082 AAI10858;AAQ88759;BAF51551;EAL23904;EAW60985;NP_940972;Q2TAL6 Hs.629302 1786502;2147953 D7S1433;SHGC-82868 MGC131845;PSST739;UNQ739 OTTHUMP00000159581;brain-specific chordin-like protein;brorin;von Willebrand factor C domain-containing protein 2 APPROVED protein-coding HGNC:30200 18271 611108 REVIEWED 2859445 VWC2L von Willebrand factor C domain containing protein 2-like INVOLVED IN negative regulation of BMP signaling pathway (inferred); positive regulation of neuron differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (inferred); cell junction (inferred); extracellular space (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); lead diacetate (ortholog) 2 2 2 q34-q35 209044703 209208866 + 215276292 215440774 + 214411568 214575929 + 6480464;8554872 12477932;18187620;20379614;20468071;22209847;23534349 402117 B2RUY7;B7ZW27 AB374231;ABBA01062781;AC068051;AC107218;AMYH02005732;AMYH02005733;BC146903;BC146911;BC146931;BC146935;BC171841;EF552207;EU541473;KF456773;KF456778;NM_001080500;XM_006712525 AAI46904;AAI46912;AAI46932;AAI46936;AAI71841;ABU41137;ACD62527;B2RUY7;BAH04176;NP_001073969;XP_006712588 Hs.534834 1750697;1765017;1776958 D2S107;SHGC-112180;SHGC-148566 OTTHUMP00000206731;brorin-like;von Willebrand factor C domain-containing protein 2-like APPROVED protein-coding HGNC:37203 PROVISIONAL 6483995 VWC2L-IT1 VWC2L intronic transcript 1 (non-protein coding) 2 2 q35 215374906 215401614 + 214510182 214536890 + 100885780 AA868132;ABBA01062781;AC107218;AMYH02005733;HG495188;KF456773;KF456778;NR_047698 Hs.665982 AC107218.2 ncrna HGNC:41508 VALIDATED 1604589 VWA9 von Willebrand factor A domain containing 9 FOUND IN cytoplasm; INTERACTS WITH atrazine; copper(2+) sulfate; dioxygen 15 15 15 q22.31 42737603 42781299 - 65871095 65903627 - 65578757 65611289 - 6480464 11076863;11230166;11256614;12477932;15342556;15489336;16381901;20133760;20139978;21139048;21890473;21906983;21907836;21963094;23667531 81556 B4DJL6;B4DVT3;B4DWZ3;H3BMK7;H3BN95;H3BNR6;H3BP17;H3BRY6;H3BT02;H3BV25;Q96SY0 AA745705;ABBA01038847;AC027220;AK027475;AK293207;AK296134;AK301033;AK301222;AK301742;AK310857;AL136662;AMYH02030631;BC007991;BC037823;BM558754;BP315446;CA414283;CH471082;DC298728;DC313962;DC316545;DC376467;DC384988;NM_001136043;NM_001207058;NM_001207059;NR_045104;NR_045105;NR_045106;NR_045107;NR_045901;XM_006720708;XM_006720709;XM_006720710;XM_006720711 AAH07991;AAH37823;BAB55140;BAG56747;BAG58878;BAG62647;BAG62795;BAG63205;CAB66597;CAL37792;EAW77737;EAW77738;NP_001129515;NP_001193987;NP_001193988;Q96SY0;XP_006720771;XP_006720772;XP_006720773;XP_006720774 Hs.6686 1652022;1772144;1856125;2124128 A002H06;D15S1090;RH44496;RH45206 C15orf44;DKFZp564O1664 OTTHUMP00000164211;UPF0464 protein C15orf44;hypothetical protein LOC81556;von Willebrand factor A domain-containing protein 9 APPROVED protein-coding ENSG00000138614 HGNC:25372 13175 VALIDATED 2299987 VWDE von Willebrand factor D and EGF domains ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH benzo[a]pyrene; cyclosporin A; trichostatin A 7 7 7 p21.3 12348231 12421579 - 12370509 12443852 - 12330883 12404226 - 6480464;8554872 12477932;14702039;16303743;20379614;22268729;23006423 221806 E5RG96;J3KQJ9;Q8N2E2 ABBA01056569;AC007321;AC013470;AK027618;AK075525;AMYH02015244;BC144316;BC144319;CH236948;CH471073;NM_001135924;XM_005249641 AAI44320;BAB55237;BAC11671;EAW93643;EAW93644;NP_001129396;Q8N2E2;XP_005249698 Hs.669526 1662095;1755557;2121735;2180444 D7S2376;GDB:1318156;RH47773;SHGC-142411 FLJ14712 OTTHUMP00000201468;OTTHUMP00000225163;von Willebrand factor D and EGF domain-containing protein protein-coding ENSG00000146530 HGNC:21897 PROVISIONAL 1346863 VWFP1 von Willebrand factor pseudogene 1 22 22 22 q11.1 793068 807644 - 17170925 17185351 - 16690035 16704461 - 1487245;1988024 7451 AC005301;NG_001212;X66120 1742263;1743999;2142900 D22S543;GDB:194282;GDB:384761 F8VWFL;F8VWFP;VWFP APPROVED pseudo HGNC:12727 INFERRED 1352980 VWS Van der Woude syndrome ASSOCIATED WITH OROFACIAL CLEFT 6, SUSCEPTIBILITY TO (inferred); Popliteal Pterygium Syndrome (inferred); Van der Woude syndrome (inferred) 7240710 7452 HGNC:12728 119300;119500;608864 1318471 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 1 p12 117804670 117914139 - 119573839 119683404 - 119031216 119140788 - 1580863;6480464;6907045 10072595;10828066;12477932;14757836;15489334;16341674;16710414;17207965;17726052;20877624;20935629;21832049;24250222;24816145;8125298 10352 B7Z448;B7Z5X7;B7Z6G7;Q9UGM6 ABBA01068510;ABBA01068511;AJ242739;AK223197;AK296799;AK299547;AK300295;AK313740;AL139420;AL359823;AL590288;AMYH02001811;AMYH02001812;BC021722;BC039889;BC044575;BM834499;CH471122;KF455027;NM_015836;NM_201263;XM_005270350;XM_005270352;XM_006710283;XM_006710284 AAH44575;ADQ32964;BAD96917;BAG36481;BAH12434;BAH13063;BAH13253;CAB63107;EAW56693;EAW56694;NP_056651;NP_957715;Q9UGM6;XP_005270407;XP_005270409;XP_006710346;XP_006710347 Hs.523506 1338626;1659853;1659855;1690222;1701682;1761853;1781500;2170503;2187446 D1S2242;D1S534;G31199;RH36716;SHGC-141512;SHGC-145801;SHGC-64122;SHGC-75395;SHGC-75398 TrpRS (Mt)TrpRS;OTTHUMP00000014272;OTTHUMP00000014273;tryptophan tRNA ligase 2, mitochondrial;tryptophan--tRNA ligase;tryptophan--tRNA ligase, mitochondrial;tryptophan-tRNA ligase;tryptophanyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000116874 HGNC:12730 05295 604733 REVIEWED 7096862 WAC-AS1 WAC antisense RNA 1 (head to head) 10 10 10 p11.23 28572802 28585368 - 28808846 28821460 - 28519917 28532354 - 12477932;14702039;16751776 220906 ABBA01034374;AK001143;AL358234;AMYH02022535;BC043365;BC045818;DQ590761;HG502760;HG502761;NR_033805 Hs.403253 1756201;2190103;5015961;5024756;5124377 99-511;D15S1477;RH79851;RH80030;SHGC-143066 RP11-164A7.1 ncrna HGNC:27347 VALIDATED 1319037 WAPAL wings apart-like homolog (Drosophila) INVOLVED IN negative regulation of chromatin binding; negative regulation of DNA replication; negative regulation of sister chromatid cohesion; ASSOCIATED WITH Melanoma (inferred); FOUND IN chromatin; cohesin complex; cytoplasm; INTERACTS WITH alpha-naphthoflavone; arsenous acid; atrazine 10 10 10 q23.2 82193855 82283880 - 88195013 88281541 - 86435256 86521821 - 6480464;8554872 11111111;12477932;15164054;15231747;15302935;15345747;15383329;15620708;16159877;16385451;17081983;17112726;17113138;17349791;17382297;18029348;18187866;18662753;19322201;19471022;19696148;19907496;20360068;20379614;21111234;21139048;21252943;21275903;22145905;22699663;22751501;22939629;23383273;23776203;23793025;24250222;24332808;24529757;24816145;9039502 23063 B2RTX8;Q7Z5K2;Q8WVX6 AB065003;AB426821;AB426822;AB426823;AB426824;AB426825;AB426826;AB426827;AB426828;AB426829;AB426830;AB426831;AB426832;AB426833;AB426834;AB426835;AB426836;AB426837;AB426838;ABBA01033670;ABBA01033671;ABBA01033672;ABBA01033673;ABBA01033674;AF479418;AK000849;AK027005;AK290138;AL731569;AL844892;AMYH02023480;BC017393;BC036507;BC105991;BC140858;BC150269;CH471142;D87450;NM_015045;XM_006717726;XM_006717727;XM_006717728;XM_006717729 AAH17393;AAI40859;AAI50270;AAO14651;BAA13391;BAC78631;BAF82827;BAG55435;BAG55436;BAG55437;BAG55438;BAG55439;BAG55440;BAG55441;BAG55442;BAG55443;BAG55444;BAG55445;BAG55446;BAG55447;BAG55448;BAG55449;BAG55450;BAG55451;BAG55452;EAW80334;EAW80335;EAW80336;EAW80337;NP_055860;Q7Z5K2;XP_006717789;XP_006717790;XP_006717791;XP_006717792 Hs.203099;Hs.714876 1661700;1682798;1714425;1760069;1788758;2165367;5491445 MARC_12283-12284:1005150312:1;RH120205;RH130055;RH68106;RH79889;SHGC-107756;STS-H98757 FOE;KIAA0261;WAPL OTTHUMP00000020004;friend of EBNA2 (Epstein-Barr virus nuclear protein 2);friend of EBNA2 protein;wings apart-like protein homolog protein-coding ENSG00000062650 HGNC:23293 11072 610754 VALIDATED 1317961 WARS tryptophanyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q32.31 80854751 80897310 - 100800125 100842680 - 100333788 100376343 - 1580863;6480464;6907045 11474204;11773625;11773626;11829477;11834741;12416978;12477932;1286667;1373391;14630953;14660560;14671330;14702039;1537332;15489334;15628863;15939065;16009940;16083285;16130169;16169070;16341674;16702215;16724112;16798914;1761529;1763065;1765274;17877375;17999956;18180246;19363598;19768679;19900940;19913121;20562859;20628086;20963594;21044950;21139048;21442253;21832049;21890473;21900206;21906983;21926542;21963094;22079093;22586326;22863883;22939629;22990118;23000965;23463506;23651343;23670221;24816145;25015289;25027693;7685728;7925483;8496617;8646895;8724762;8864140;9731757 7453 G3V227;G3V277;G3V2C0;G3V2F2;G3V2Y7;G3V313;G3V339;G3V3H8;G3V3P2;G3V3R3;G3V3S7;G3V3X0;G3V3Y5;G3V423;G3V456;G3V4A3;G3V4C7;G3V4N0;G3V4N8;G3V4Q0;G3V4S4;G3V5H5;G3V5U1;G3V5W1;H0YJP3;P23381;P78534 ABBA01048530;ABBA01048531;AK025487;AK056100;AK130698;AK291141;AK300255;AL135838;AL157871;AMYH02029854;AV710027;BC017489;BC095453;BG717903;BM561448;BM834473;BX248006;CH471061;M61715;M77804;NG_029914;NM_004184;NM_173701;NM_213645;NM_213646;S82904;S82905;X59892;X62570;X67923;XM_005268044;XM_006720248;XM_006720249 AAA61298;AAA67324;AAB39380;AAB39381;AAH17489;AAH95453;BAF83830;BAG51626;BAG62020;CAA42545;CAA44450;CAB94199;CAD62335;EAW81700;EAW81701;EAW81702;EAW81703;NP_004175;NP_776049;NP_998810;NP_998811;P23381;XP_005268101;XP_006720311;XP_006720312 Hs.497599 1651432;1660608;1674867;1700072;2110799;2133894;2182001;2185950 G35834;RH103649;RH44843;RH65341;RH70848;WARS_8724;WI-12109;WI-12287 GAMMA-2;IFI53;IFP53;hWRS;trpRS OTTHUMP00000246493;OTTHUMP00000246494;OTTHUMP00000246495;OTTHUMP00000246496;OTTHUMP00000246497;OTTHUMP00000246498;interferon-induced protein 53;tryptophan tRNA ligase 1, cytoplasmic;tryptophan--tRNA ligase;tryptophan--tRNA ligase, cytoplasmic;tryptophanyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000140105 HGNC:12729 01845 191050 REVIEWED 1602968 VWCE von Willebrand factor C and EGF domains ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular region (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; aflatoxin B1 11 11 11 q12.2 58361797 58398795 - 61025758 61062788 - 61258286 61295316 - 6480464;8554872 12477932;12869306;14702039;16344560;16496348;19413886;19900406;23828164;7566098 220001 B4DS56;B4DY31;Q96DN2 AA328361;ABBA01003196;ABBA01003197;AC244206;AK056571;AK299583;AK302241;AP003037;AY205235;BC042143;BC052564;BC077719;BC142624;CH471076;DB126089;NM_152718;XM_005273836;XM_006718460;XM_006718461;XM_006718462;XM_006718463 AAI42625;AAO47606;BAB71219;BAG61518;BAG63593;EAW73929;EAW73930;EAW73931;EAW73932;NP_689931;Q96DN2;XP_005273893;XP_006718523;XP_006718524;XP_006718525;XP_006718526 Hs.60640 1699128;2134355 RH103140;STS-AA017051 FLJ32009;URG11;VWC1 HBV X protein up-regulated gene 11 protein;HBxAg up-regulated gene 11 protein;OTTHUMP00000238313;von Willebrand factor C and EGF domain-containing protein protein-coding ENSG00000167992 HGNC:26487 08116 611115 VALIDATED 7241104 WARS2P1 tryptophanyl tRNA synthetase 2 pseudogene 1 10 10 10 76693885 76694448 - 82700400 82700963 - 80940644 80941207 - 100421633 ABBA01003788;AC013242;AMYH02023425;NG_025451 pseudo HGNC:45116 INFERRED 1605391 WAC WW domain containing adaptor with coiled-coil The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 10 10 10 p12.1 28585512 28673953 + 28821355 28912041 + 28532426 28623112 + 6480464 11042152;11223034;11347906;11827461;12477932;14702039;15146197;15164054;15489334;16189514;16712791;16713569;16964243;17043677;17081983;17500595;18781797;21329877;21811234;21832049;21890473;21906983;21988832;22053931;22087225;22354037;22939629;23000965;23500464;24250222;24654937;24722188;8125298 51322 C9JD58;C9JMU2;C9JVK6;E9PMZ7;J3QT76;J3QTA0;Q9BTA9 AA424883;AB058747;ABBA01034373;ABBA01034374;AF116666;AF208858;AK055852;AK091453;AK223600;AK225846;AK290174;AK297460;AL161936;AL358234;AL713727;AMYH02022535;AMYH02022536;AMYH02022537;BC004258;BC010356;BI226998;BI463901;CB143386;CH471072;CN415473;NM_016628;NM_100264;NM_100486;NR_024557;XM_005252454;XM_005252457;XM_005252459 AAF64272;AAF71086;AAH04258;AAH10356;ADZ15977;BAB47473;BAB71029;BAD97320;BAF82863;BAG59883;CAD28517;EAW86032;EAW86033;EAW86034;EAW86035;EAW86036;EAW86037;EAW86038;EAW86039;EAW86040;EAW86041;EAW86042;NP_057712;NP_567822;NP_567823;Q9BTA9;XP_005252511;XP_005252514;XP_005252516 Hs.743224 1339766;1643846;1777587;1788734;1789096;1857141;2131560;2172031;5015961;5021343;5022322;5022578;7190557;7190561 D10S1462;D10S1559;D10S1605;D10S1639;D10S2157;D11S2560;D15S1477;D1S1423;G65682;MARC_12205-12206:1004715700:1;RH136094;STS-N29472 BM-016;MGC10753;PRO1741;Wwp4;bA48B24;bA48B24.1 1110067P07Rik;OTTHUMP00000019380;OTTHUMP00000019381;OTTHUMP00000019382;OTTHUMP00000019383;WW domain-containing adapter protein with coiled-coil;WW domain-containing adaptor with coiled coil APPROVED protein-coding ENSG00000095787 HGNC:17327 18291 615049 REVIEWED 8655284 WARSP1 tryptophanyl-tRNA synthetase pseudogene 1 11 11 q12.1 56382608 56386732 + 59022850 59026973 + 341112 AP002358;CH471076;XM_001714687;XM_003119182 EAW73840;XP_001714739;XP_003119230 protein-coding HGNC:50482 1604630 VWA8 von Willebrand factor A domain containing 8 ENCODES a protein that exhibits ATP binding (inferred); ATPase activity (inferred); INVOLVED IN ATP catabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN extracellular region (inferred); mitochondrion (inferred); INTERACTS WITH benzo[a]pyrene; paracetamol; valproic acid 13 13 13 q14.11 23199011 23592898 - 42140961 42535221 - 41566825 41961102 - 6480464;8554872 12421765;12477932;14702039;19615732;20379614;20528957;20663923;24057671;24639526;24816145;25036637;9628581 23078 A3KMH1 AA648780;AB011136;ABBA01021262;ABBA01021263;ABBA01021264;AK025432;AK095155;AK308568;AL160252;AL161417;AL163544;AL354833;AL442203;AL834181;AMYH02027922;AMYH02027923;AMYH02027924;AMYH02027925;AMYH02027926;AMYH02027927;AMYH02027928;BC042924;BC053674;BC131802;CH471075;NM_001009814;NM_015058;XM_006719790;XM_006719791;XM_006719792 A3KMH1;AAH42924;AAH53674;AAI31803;BAA25490;BAG52993;CAD38878;EAX08665;EAX08666;EAX08667;NP_001009814;NP_055873;XP_006719853;XP_006719854;XP_006719855 Hs.368282 1657668;1672087;1674642;1687834;1706992;1716491;1718415;1737527;1738437;1750055;2132534;2152503;2178952;2183447;2186249;2186755;2191023 A008J03;D13S1053;D13S1089E;D13S898;G19267;MARC_13466-13467:1002299828:1;RH121531;RH122409;RH12700;RH44589;RH64931;RH65794;SHGC-112321;SHGC-34907;SHGC-61044;SHGC-80996;WI-11109 FLJ21779;KIAA0564 OTTHUMP00000018323;OTTHUMP00000018324;OTTHUMP00000214985;hypothetical protein LOC23078;uncharacterized protein KIAA0564;von Willebrand factor A domain-containing protein 8 APPROVED protein-coding ENSG00000102763 HGNC:29071 17194 VALIDATED 6481270 WASF3-AS1 WASF3 antisense RNA 1 q12.13 100874061 AL163538;AW070512 APPROVED ncrna HGNC:39841 1343996 WASF1 WAS protein family, member 1 The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q21 111167684 111247873 - 110421022 110501219 - 110099819 110180016 - 1580863;6480464;6907045 10381382;10532312;10563804;10970852;11052943;11130076;11146629;12181570;12429845;12447388;12477932;12855698;12872157;12931191;14506234;14702039;15048123;15048733;15280206;15489334;15494313;15506982;15659634;15670045;15834156;16530190;16862120;17101133;17696648;17901257;17939402;18029348;18287015;18516090;18559503;18947485;18995840;19222940;19497998;19631450;19731823;19890377;20368433;20426950;21139048;21844371;21875946;22179776;22721732;22939629;23273897;23452202;23680521;2775266;8605018;9039502;9307968;9463375;9732292;9804817;9843499;9889097 8936 Q5SZK3;Q5SZK4;Q5SZK5;Q92558 ABBA01026121;AF134303;AI928895;AK097838;AL590009;AL590549;AL671518;AMYH02014283;AMYH02014284;AMYH02014285;AX127720;AX167525;BC044591;BC068546;BG719023;BI461486;CH471051;D87459;NM_001024934;NM_001024935;NM_001024936;NM_003931;XM_005267203;XM_005267204;XM_005267205;XM_005267206;XM_005267207;XM_005267208;XM_006715595 AAD33052;AAH44591;BAA13399;CAC38904;CAC43533;EAW48325;EAW48326;EAW48327;EAW48328;EAW48329;EAW48330;NP_001020105;NP_001020106;NP_001020107;NP_003922;Q92558;XP_005267260;XP_005267261;XP_005267262;XP_005267263;XP_005267264;XP_005267265;XP_006715658 Hs.75850 1665117;1670433;1778485;2106743;2139026;2139028;2154095 1634;A001U21;A007F39;D6S1324;G19661;RH12604;WASF1_3919 FLJ31482;KIAA0269;SCAR1;WAVE;WAVE1 OTTHUMP00000016990;OTTHUMP00000016992;WASP family protein member 1;homology of dictyostelium scar 1;protein WAVE-1;verprolin homology domain-containing protein 1;wiskott-Aldrich syndrome protein family member 1 APPROVED protein-coding ENSG00000112290 HGNC:12732 05434 605035 REVIEWED 1626545 WASF4P WAS protein family, member 4, pseudogene This gene is a pseudogene belonging to the family of genes encoding Wiskott-Aldrich syndrome (WAS) proteins, which are involved in the transmission of signals to the actin cytoskeleton. Wiskott-Aldrich syndrome is a disease of the immune system. This pseudogene, which is apparently not transcribed, most closely resembles the gene encoding the WAS protein family member 2, which is located on chromosome 1. [provided by RefSeq, Jul 2008] X X X p11.23 51857872 51862058 + 47662546 47666932 + 47803147 47807533 + 644739 ABBA01052407;AJ509090;AL022578;AMYH02039291;NG_007616 CAD48858 1776543;1797198;1852496;2113234;2126484 AL023620;DXS9892;G06203;RH68756;WASF2 WASF4 APPROVED pseudo HGNC:20801 INFERRED 1346468 WASF3 WAS protein family, member 3 This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014] 13 13 13 q12 8256077 8332052 + 27131840 27263082 + 26557703 26688945 + 1580863;6480464;8554872 10048485;10381382;11073096;11146629;11246027;12168954;12185600;12477932;12856283;15057823;15280206;15670045;15752430;15826941;15907837;17623672;19395286;19801681;21105030;21544801;21875946;21906983;21988832;22315230;22581642;22806308;22909346;22952619;23318438;23677069;24197660;8137235;8889548;9732292 10810 Q5T8P4;Q9UPY6 AB020707;AB026543;ABBA01007917;ABBA01007918;AF134305;AF454702;AK289845;AK294725;AL133590;AL159978;AL163538;AL353789;AMYH02027735;AMYH02027736;AMYH02027737;BC050283;BU736040;CH471075;NM_001291965;NM_006646;S69790;XM_005266239 AAD33054;AAH50283;AAL51032;BAA74923;BAA81796;BAF82534;BAG57872;EAX08388;EAX08389;NP_001278894;NP_006637;Q9UPY6;XP_005266296 Hs.618732 1336249;1653316;1736352;1857443;1858064;1858066;2147605;2218142;5023321 A006B03;A008C17;D13S861E;D6S1660;G20666;RH46898;STS-Z40472;WASF3_3777;WI-22261 Brush-1;KIAA0900;SCAR3;WAVE3 OTTHUMP00000018160;WASP family Verprolin-homologous protein 3;WASP family protein member 3;protein WAVE-3;verprolin homology domain-containing protein 3;wiskott-Aldrich syndrome protein family member 3 APPROVED protein-coding ENSG00000132970 HGNC:12734 05458 605068 REVIEWED 1353645 WASF5P WAS protein family, member 5, pseudogene This gene is a pseudogene belonging to the family of genes encoding Wiskott-Aldrich syndrome (WAS) proteins, which are involved in the transmission of signals to the actin cytoskeleton. Wiskott-Aldrich syndrome is a disease of the immune system. This pseudogene, which is apparently not transcribed, resembles the gene encoding the WAS protein family member 3, which is located on chromosome 13. [provided by RefSeq, Jul 2008] 6 6 6 p21.33 32853833 32855612 - 31255162 31256941 - 31287385 31289164 - 19115949;20041166 387122 ABBA01038073;AL662833;AL671883;AL845443;AMYH02013447;BX248310;BX927178;CR759814;CR759828;NG_007617 APPROVED pseudo HGNC:21665 INFERRED 1349471 WAS Wiskott-Aldrich syndrome The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008] X X X p11.4-p11.21 53114189 53121821 - 48542186 48549818 + 48683797 48691427 + 1599803;1580863;6480464;6907045;7240710;8554872;8699517 8069912 10066431;10068673;10202051;10224664;10358777;10360578;10360579;10381382;10427990;10447259;10532312;10563804;10684602;10713100;10724160;10747096;10759756;10802735;10967094;11052943;11146629;11242115;11313252;11340081;11598004;11711533;11721045;11748279;11793485;11877312;11943145;11950596;12029088;12073025;12124997;12135674;12177428;12196287;12200375;12213210;12235133;12351383;12429845;12431372;12477932;12504004;12530983;12591280;12600272;12665801;12727931;12769846;12769847;12791263;12872157;12969986;14504083;14559906;14707117;15001467;15075243;15130947;15166239;15235593;15361624;15389128;15469902;15489334;15494313;15497008;15558067;15588985;15592455;15652748;15699074;15728466;15735674;15772651;15821030;15824104;15985539;16002738;16055720;16107303;16246732;16257963;16278221;16285728;16293614;16360341;16372137;16418535;16488394;16511828;16582881;16709815;16804117;16901726;17065640;17242350;17296785;17390083;17400488;17703096;17711847;17719003;17724125;17890224;18029348;18043243;18332229;18539136;18654788;18941616;18948384;18995840;19006568;19041431;19155218;19167335;19487689;19561083;19630517;19808890;19817875;19859091;20232122;20301357;20354175;20574068;20936779;21178275;21185603;21383498;21562048;21676863;21690559;21711396;21890473;21988832;22038941;22311461;22505724;22558309;22585739;22665495;22804504;22921828;22944692;23119100;23148219;23160469;23237501;23264413;23301916;23455509;23684068;24115682;24133214;24287595;24440360;24816145;24872192;2904289;4161668;7565724;7753869;7795648;8528198;8528199;8625410;8643625;8757563;8805223;8805332;8810341;8824280;8892607;9098856;9126958;9307968;9405671;9445409;9488710;9660763;9683546;9694849;9713366;9742969;9889097 7454 C9J3B7;P42768 ABBA01046045;AC115618;AF115548;AF115549;AF196970;AMYH02039306;BC002961;BC012738;BI910072;CF529565;CH471224;NG_007877;NM_000377;U12707;U18935;U19927 AAA60381;AAA62663;AAC50140;AAD26691;AAH02961;AAH12738;ABW03900;EAW50758;EAW50759;NP_000368;P42768 Hs.2157 1677530;1689155 RH79911;RH91122 IMD2;SCNX;THC;THC1;WASP OTTHUMP00000032395;eczema-thrombocytopenia;thrombocytopenia 1 (X-linked);wiskott-Aldrich syndrome protein APPROVED protein-coding ENSG00000015285 HGNC:12731 02314 300299;300392;301000;313900 REVIEWED 2299988 WASH2P WAS protein family homolog 2 pseudogene ENCODES a protein that exhibits alpha-tubulin binding (ortholog); INVOLVED IN Arp2/3 complex-mediated actin nucleation (ortholog); endosomal transport (ortholog); retrograde transport, endosome to Golgi (ortholog); FOUND IN early endosome (ortholog); recycling endosome (ortholog); WASH complex (ortholog); INTERACTS WITH quercetin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 2 2 q13 114341230 114356614 + 113583653 113599037 + 6480464 10655549;11701968;12477932;15233989;16344560;18159949;20936779;21832049;21900206;21906983;21988832;24816145 375260 Q6VEQ4;Q6VEQ5 AC245097;AF328424;AK292759;AK308574;AL078621;AL137714;AY217347;AY341936;AY341937;BC015400;BC027921;BC063459;BC073149;BC073913;BC082240;BC093083;BC106020;BX377099;BX537637;DA685507;NR_024077 AAO45100;AAQ76875;AAQ76876;BAF85448;CAB70887;CAD97803 Hs.446466;Hs.459573;Hs.709408 1687457;1813658;5014053;5014366;5038400;5096857 D1S3693;ECD03212;ECD07852;ECD09355;ECD12236;RH26395 DKFZp434K1323;FAM39B;FLJ77647;FLJ98615;MGC104889;MGC111476;MGC117230;MGC52000;MGC90409 pseudo ENSG00000146556 HGNC:33145 17562 VALIDATED 1626557 WASH1 WAS protein family homolog 1 ENCODES a protein that exhibits alpha-tubulin binding; ubiquitin protein ligase binding; INVOLVED IN Arp2/3 complex-mediated actin nucleation; retrograde transport, endosome to Golgi; endosomal transport (ortholog); FOUND IN early endosome; WASH complex; recycling endosome (ortholog); INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine 9 9 p24.3 14469 29739 - 14511 29739 - 6480464 10655549;11701968;12477932;14702039;15146197;15233989;18159949;19922874;19922875;20175130;20923837;21906983;22114305;22513087;22939629;23452853;23974797;24344185;24816145;24980959;8889548 100287171 A8K0Z3;Q9NSV7 AK024448;AK024481;AK289708;AK309568;AL928970;AMYH02019022;BC014406;BC063893;BC094860;BM970740;CN404407;NM_182905 A8K0Z3;AAI56860;AAI60141;BAB15738;BAB15771;BAF82397;NP_878908 Hs.446466;Hs.459573;Hs.461200;Hs.521961;Hs.585931;Hs.709408 1687457;1712126;5014366;5038400;5105066;5105068;5105070 ECD09355;ECD12236;G54113;RH26395;stSG608804;stSG608805;stSG608806 DKFZp434K1323;FAM39E;FLJ00038;FLJ75027;FLJ99609;MGC190539;MGC193256;WASH CXYorf1-like protein on chromosome 9;FLJ00075 protein;family with sequence similarity 39, member E protein-coding ENSG00000181404 HGNC:24361 613632 VALIDATED 1606388 WASH4P WAS protein family homolog 4 pseudogene ENCODES a protein that exhibits alpha-tubulin binding (ortholog); INVOLVED IN Arp2/3 complex-mediated actin nucleation (ortholog); endosomal transport (ortholog); retrograde transport, endosome to Golgi (ortholog); FOUND IN early endosome (ortholog); recycling endosome (ortholog); WASH complex (ortholog) 16 16 p13.3 64079 68091 - 14079 18091 - 11701968;15616553;18029348;18159949;24816145;9054936 374677 A8MWX3;F5GYV6;H3BUR0;H3BV49 AMYH02031177;NG_003159;Z84812 1813658;2104304 ECD07852;stSG608807 CXYorf1P;FAM39CP;FLJ31670 pseudo HGNC:14126 INFERRED 1602140 WASH6P WAS protein family homolog 6 pseudogene ENCODES a protein that exhibits alpha-tubulin binding (ortholog); INVOLVED IN Arp2/3 complex-mediated actin nucleation (ortholog); endosomal transport (ortholog); retrograde transport, endosome to Golgi (ortholog); FOUND IN early endosome (ortholog); recycling endosome (ortholog); WASH complex (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); dibutyl phthalate (ortholog) X;Y X;Y q28;Yq12 155251323 155255337 + 57208178 57212192 + 6480464 10655549;11701968;12477932;12566406;14702039;15233989;15252450;18029348;18159949;20308062;20498093;21906983;24816145 653440 Q9NQA3 AJ271736;BC029274;EU240546;EU240556;NG_008380 ABX71499;ABX71509;CAB96818;Q9NQA3 1815082;1831326;1838628;2104304;2104306;2104308;2104310;5096857 ECD03212;ECD08574;ECD16799;ECD20488;stSG608807;stSG608809;stSG608810;stSG608811 CXYorf1;FAM39A;FLJ77647;WASH pseudo HGNC:31685 16814 INFERRED 1606389 WASH3P WAS protein family homolog 3 pseudogene ENCODES a protein that exhibits alpha-tubulin binding (ortholog); INVOLVED IN Arp2/3 complex-mediated actin nucleation; endosomal transport (ortholog); retrograde transport, endosome to Golgi (ortholog); FOUND IN filopodium; lamellipodium; early endosome (ortholog); INTERACTS WITH 2-methylcholine; coumestrol; ethyl methanesulfonate 15 15 q26.3 102501016 102516808 + 101960813 101976605 + 6480464 10655549;11701968;12477932;14702039;15489334;16341674;16344560;16572171;18159949;21832049;21906983;24816145 374666 C4AMC7 ABBA01001210;AC140725;AF282037;AK056232;AK057951;AK095183;AK097269;AK290087;AK291582;AK295256;AK300161;AMYH02031175;AW604905;BC048328;BC063555;BC067227;BC110991;BC110996;BI830790;BI830792;BM839085;BQ722707;BQ935819;BQ937971;BX452679;DA065132;NR_003659;XR_426464 BAF82776;BAF84271;BAG53001;BAG58245;BAG61944;C4AMC7 Hs.459573;Hs.585931 1712126;5038310 ECD06306;G54113 FAM39DP;FLJ25222;FLJ57306;FLJ75027;FLJ77846;FLJ78059;MGC117230;MGC52000 pseudo HGNC:24362 16921 VALIDATED 4140866 WASIR1 WASH and IL9R antisense RNA 1 X X q28; Yq12 155400938 155403224 - 155244602 155246576 - 11181995 100128260 AJ271736;CH471247;XM_003119200;XR_110938;XR_113324 EAW55887;XP_003119248 1815082;1831326;1838628;2046584;2104306;2104308;2104310 ECD08574;ECD16799;ECD20488;REN94418;stSG608809;stSG608810;stSG608811 NCRNA00286B hCG_1742852;non-protein coding RNA 286B APPROVED ncrna HGNC:38513 4145492 WASH7P WAS protein family homolog 7 pseudogene 1 1 p36.33 14362 29370 - 14362 29370 - 12477932;14702039;16344560;18159949 653635 AK092583;AK294377;AK296182;AK302089;AK308540;AK308566;AK309926;AK310121;AK310139;AK316487;AL627309;BC053987;BC063470;BC094698;BU616084;DA054875;DA143319;NR_024540 BAG52575;BAG57635;BAG58914;BAG63476;BAH14858 Hs.446466;Hs.459573;Hs.461200;Hs.585931;Hs.709408 1712126;5014366;5038400;5105066 ECD09355;ECD12236;G54113;stSG608804 FAM39F;FLJ35264;FLJ50976;FLJ51139;FLJ99967;WASH5P pseudo HGNC:38034 VALIDATED 1347936 VWF von Willebrand factor The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand's disease. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008] 12 12 12 p13.3 7677686 7853476 - 6058040 6233836 - 5948874 6124670 - 1580642;1580643;1580647;1580648;1625712;1625709;1625710;1625711;1580644;1580645;1580863;1580446;6480464;6907045;7207029;7240710;7205646;7205649;7205650;7207026;7207027;7205639;7205641;7207031;7207032;7207039;7205648;1331525;8554872;8699517 10077454;11487006;11864703;14507115;14717981;14727254;15118671;15849757;16631442;16739871;16764036;17546272;19722571;19839997;20439183;21153061;21378155;21497043;21953673;22091998;22189209;22295953;22596213;22771326 10480607;10607717;10737800;10764791;10831592;10880054;10887119;10887121;10961880;11056094;11236861;11583318;11698279;11722428;11736957;11755948;11756664;11776313;11776314;11843285;11843287;11843298;11859851;11869299;11877281;11914659;11920243;11943773;11992236;11992244;12006654;12036871;12036879;12069583;12070018;12082590;12083486;12087105;12091053;12121649;12163004;12183630;12215337;12361948;12362242;12381897;12393671;12393698;12393736;12406074;12445472;12447349;12456504;12477932;12511565;12543870;12579041;12582178;12624629;12646253;12649144;12665801;12668663;12676191;12719775;12729795;12737944;12775718;12791651;12792699;12815111;12851529;12860973;12871266;12871466;12871509;12883448;12958606;1409710;1419803;1419804;1420817;1429668;1439770;14512308;14517489;14525793;14604963;14630802;14691575;14717782;14717980;14718574;14727255;14755371;14760718;14995987;15005754;15029268;15039442;15079089;15087444;15102023;15150074;15182579;15203711;15219197;15226181;15231748;15249683;15257287;15322948;15331450;15377475;15382239;15459008;15467896;15471879;15514009;1571548;15735796;15748246;15748247;15764659;15799029;15809291;15816602;15824096;15831502;15842373;15842374;15842375;15886321;15886817;15933060;15946218;15946221;15975930;16005629;16102036;16102037;16141351;16194200;16203734;16221672;16247740;16286459;16314412;16320153;16321553;16322474;16324758;16344560;16373331;16409464;16418330;16420575;16424652;16435187;16449527;16581250;16634765;16676067;1672694;1673047;16735600;16774914;16805860;16835381;16839358;16870550;16894469;16899464;16912226;16953269;16953272;16985174;16990571;17010412;17052980;17053057;17087728;17090649;17098004;17100655;17109387;17119126;17121983;17137217;17146059;17159336;17159339;17190853;17275499;17296575;1729889;17370265;17371490;1737795;17393012;17393013;17408405;17408410;17414220;17472573;17490730;17493665;17597991;17598011;17598021;1761120;17619827;17622488;17650077;17681836;17721608;17723135;17764538;17786534;17849054;17883593;17890957;17901248;17908278;17922807;17949477;17958741;17975018;17996280;18029348;18042361;18045606;18064343;18094571;18173757;18194418;18263586;18315546;18315556;18327408;1832934;18344423;18347221;18388497;18433456;18433458;18449422;18485092;18492805;18503632;18515885;18521502;18521510;18535282;18549909;18577516;18600088;18612539;18618671;18637125;18647229;18665926;18690339;18712522;18724972;18725999;18752579;18761720;18771467;18776767;18809794;18841300;18848323;18854154;18855616;18923835;18927433;18945966;18981290;18983499;18983500;18985028;18996572;19021456;19029465;19056867;19060241;1906179;19088379;19110358;19175495;19190805;19190813;19190814;19192112;19277422;19286880;19289057;19298374;19346881;19350125;19372260;1939645;19420105;19422343;19422453;19436051;19470641;19477487;19496923;19498171;19506352;19506353;19506354;19506355;19506356;19506357;19506358;19506359;19506360;19506361;19506362;19541819;19566550;19570985;19587373;19608674;19624459;19630761;19630816;19647361;19682236;19687512;19718474;19718479;19726719;19729451;19730683;19732980;19740526;19765212;19765213;19773258;19812385;19817991;19820200;19840363;19874459;19875727;1988024;1988154;19897581;19897584;19913121;19933990;19943880;19944670;19948975;19965639;20021313;20024497;20030949;20032502;20036902;20058209;20060388;20062916;20063990;20075158;2010538;2011604;20118404;20142117;20156642;20197612;20201926;20218000;20231421;20231535;20301765;20303469;20335223;20346360;20351307;20354169;20403097;20418283;20424473;20431063;20452482;20491956;20492463;20498367;20505748;20508517;20561182;2056120;20565774;20570857;20586924;20589313;20589314;20589320;20605782;20627205;20628086;20650506;20651279;20673868;20675279;20682599;20695979;20696943;20696945;20701764;20704649;20705333;20723310;20725043;20729548;20737318;20806106;20806123;20851871;20854374;20936779;20940418;20941784;20946172;20958794;20979592;21029358;21037087;21044367;21048155;21078624;21083900;21094987;21136020;21143374;21150180;21163921;21174003;21266777;21304226;21342431;21343614;21346256;21352469;21362127;21393328;21410641;21471547;21474661;21507943;21512165;21518247;21592258;21592973;21596755;21605335;21612582;21629201;21638248;21705658;21711445;21715306;21729570;21779388;21792464;21810271;21831097;21839029;21844207;21847508;21857647;21896483;21904649;21909423;21911836;21917758;21937160;21940821;21988832;22004444;22032085;22056526;22070827;22077817;22095559;22096550;22100896;22110247;22125593;22139419;22163125;22178067;22197721;22207689;22219226;22244714;22257027;22267483;22268915;22282355;22298244;22357761;22370688;22429825;22431572;22431729;22452980;22466813;22477538;22479377;22487084;22490677;22503077;22507569;22507806;2251280;22517896;22532296;22537243;22545467;22559004;22568520;22593709;22612323;22674667;22688555;22718838;22740102;22781599;22812646;22849435;22854959;22871923;22896002;22922961;22923007;22952809;22972845;22982001;23020229;23041092;23104847;23168412;23179108;23216583;23266519;23267103;23311757;23335371;23349392;23354996;23355534;23358615;23383177;23407766;23426949;23433535;23446343;23481506;23520336;23529929;23539537;23621778;23636243;23682841;23690449;23702511;23720451;23737952;23757730;23775583;23775931;23812299;23819767;23834637;23902764;23991205;24008159;24010664;24014239;24056772;24062306;24075746;24097977;24106205;24211824;24270421;24327155;24338608;24351199;24357063;24391089;24394662;24406064;24449821;24465435;24550384;24558203;24640675;24642750;24700780;24733925;24790143;24951428;2557900;2584182;2786201;2828057;2839553;2864688;3019665;3033024;3082891;3087627;3089784;3121636;3134349;3488076;3488775;3489483;3489923;3490481;3495266;3496594;3502076;3524673;3872140;3873280;3874428;3875078;6336654;6754744;7505120;7620154;7721887;7734373;7756647;7789955;7989040;8011991;8088787;8123843;8123844;8318738;8338947;8348943;8376405;8435341;8486782;8547152;8565074;8590955;8622978;8839833;8874190;9079671;9215757;9218428;9312128;9331419;9351824;9373253;9407109;9553097;9570915;9759493 7450 I3L4K4;P04275 ABBA01017627;ABBA01017628;ABBA01017629;AC005845;AC005846;AC005904;AF086470;AK292122;AK297600;AK298097;AK301216;AMYH02025939;AMYH02025940;AMYH02025941;AMYH02025942;BC022258;BG951111;BQ898017;CH471116;DB293903;HI552225;JB767221;K03028;KC877500;M10321;M16946;M17588;M25828;M25865;M60675;NG_009072;NM_000552;U81237;X02672;X04146;X04385;X06829 AAA61293;AAA61294;AAA61295;AAA65940;AAB39987;AAB59458;AAB59512;AAH22258;ACX32324;BAF84811;BAG59985;BAG60382;BAG62791;CAA26503;CAA27765;CAA27972;CBX54458;CDI44165;EAW88814;EAW88815;EAW88816;EAW88817;EAW88818;NP_000543;P04275 Hs.440848 1661131;1724715;1733530;1736848;1736860;1740913;1741073;1741227;1741229;1741273;1741667;1741721;1742013;1742591;1743999;1778808;1849800;1855670;2127489;2161022;2180764;2183719;2189773;2218140;5119581;5119645;5119647;7183174 D12S1259;D12S1264;D12S289;D12S825;D12S877;G41270;G41271;G41272;GDB:176284;GDB:177382;GDB:177623;GDB:177624;GDB:177640;GDB:178699;GDB:178806;GDB:180294;GDB:181639;GDB:182362;GDB:186564;GDB:188761;GDB:190877;GDB:197913;GDB:384761;RH122561;VWA;VWF_2697;WI-6010 F8VWF;VWD OTTHUMP00000238431;coagulation factor VIII VWF APPROVED protein-coding ENSG00000110799 HGNC:12726 01906 193400;277480;613160;613554 REVIEWED 2302258 WASH5P WAS protein family homolog 5 pseudogene X 19 19 p13.3 155394459 155407034 + 60951 70966 - 60951 70966 - 14702039 375690 AC008993;AK308635;NR_033266 Hs.521961;Hs.572592 2046584 REN94418 FAM39F;FLJ35264;FLJ50976;FLJ51139;FLJ98676;FLJ99967 pseudo ENSG00000225373 HGNC:33884 VALIDATED 1316411 WASF2 WAS protein family, member 2 This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 1 1 1 p36.11 26129424 26213972 - 27730734 27816678 - 27404230 27490167 - 1580863;6480464;6484113;6907045;8554872 10202051;10381382;10427990;10532312;10970852;11073096;11130076;11146629;11246027;11773052;12054568;12181570;12477932;15048123;15070726;15107862;15280206;15489334;15657136;15670045;15772651;16055720;16401421;16417406;16638851;16702231;16710414;16751776;16899465;17020969;17081983;17101133;17459058;17501982;17591693;18509249;18514191;18560548;18795939;18809728;18856062;19012317;19162178;19303398;19576655;19917258;19925864;20585556;20621182;21119216;21139048;21184743;21383498;21419341;21769917;21875946;21906983;22558309;22863883;22939629;23051739;23161539;23435376;23444366;23518928;23691243;24125947;24415754;24469447;24778020;24816145;8619474;9110174;9307968;9732292;9804817;9889097;9950691 10163 Q8NBU0;Q9Y6W5 AB026542;ABBA01034971;ABBA01034972;ABBA01034973;ABBA01034974;AJ431612;AK024540;AK025566;AK075231;AK303011;AK304750;AL096774;AL663122;AMYH02000599;AMYH02000600;AMYH02000601;AMYH02000602;AY007122;BC001524;BC001855;BC012329;BC032380;BC032724;BC040943;BX293535;CH471059;DC376823;FO393419;NM_001201404;NM_006990 AAH32724;AAH40943;BAA81795;BAC11488;BAG64142;BAG65507;CAC18518;EAX07753;NP_001188333;NP_008921;Q9Y6W5 Hs.469244 1773223;1776543;1797198;1798316;1852496;2126484 AL023620;D20S1108;G06203;RH68756;WASF2;WASF2_2055 IMD2;SCAR2;WASF4;WAVE2;dJ393P12.2 OTTHUMP00000003471;Putative Wiskott-Aldrich syndrome protein family member 4;WASP family Verprolin-homologous protein 2;WASP family protein member 2;WASP family protein member 4;protein WAVE-2;suppressor of cyclic-AMP receptor (WASP-family);verprolin homology domain-containing protein 2;wiskott-Aldrich syndrome protein family member 2 APPROVED protein-coding ENSG00000158195 HGNC:12733 05796 605875 REVIEWED 1312705 WBP1 WW domain binding protein 1 The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011] 2 2 2 p12 74516766 74519199 + 74684996 74688018 + 74458400 74460891 + 1580863;6480464 11604498;12477932;14702039;15064722;15146197;15489334;21078624;21841196;21981024;7644498;9169421;9202023 23559 A8MX15;B8ZZ95;C9JLM6;Q96G27 AA635803;ABBA01075601;AC005041;AF087888;AK094297;AK315745;AMYH02004091;BC010012;BC064482;BC071626;BC071850;CH471053;CN403791;NM_012477;U79457 AAD10950;AAH10012;AAH64482;AAH71626;AAH71850;AAP97187;ABM84001;ABW03564;BAG38099;EAW99656;EAW99657;EAW99662;EAW99664;NP_036609;Q96G27 Hs.516114 1651222;1770666;1797200;2110801;5019555;5111436;7187585 D2S1978;D6S304;G54081;RH78317;SHGC-31624;WBP1;WBP1_9371 MGC15305;WBP-1 OTTHUMP00000160417;OTTHUMP00000160418;OTTHUMP00000202627;OTTHUMP00000202628;WW domain-binding protein 1 APPROVED protein-coding ENSG00000239779 HGNC:12737 09510 606961 REVIEWED 1317378 WBP11 WW domain binding protein 11 This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008] 12 12 12 p12.3 20084400 20101388 - 14937513 14956420 - 14786478 14803467 - 1580863;6480464;6907045;8554872 10593949;10744724;11054566;11375989;12477932;14640981;15489334;15635413;16000308;16055720;16120600;16162498;16169070;16189514;16713569;17081983;17332742;18654987;19592703;21139048;21890473;21988832;22321011;22365833;22939629;23080069;24163370;24457600;24816145 51729 F5GXS9;F5H5G4;Q9Y2W2 AB029309;ABBA01067886;AC007655;AC010168;AF118023;AK297410;AK302244;AMYH02026095;BC001621;BC016441;BC023532;BX647347;CH471094;NM_016312 AAD30425;AAH01621;AAH16441;AAH23532;ABM83466;ABM86677;BAA88410;BAG59845;BAG63596;EAW96328;EAW96329;NP_057396;Q9Y2W2 Hs.655138 1665939;1733604;1736308;2126361 D12S1247E;D12S932;STS-H03835;WI-18587 DKFZp779M1063;NPWBP;PPP1R165;SIPP1;WBP-11 Npw38-binding protein NpwBP;OTTHUMP00000239327;OTTHUMP00000239328;SH3 domain-binding protein SNP70;WW domain-binding protein 11;splicing factor that interacts with PQBP-1 and PP1;splicing factor, PQBP1 and PP1 interacting APPROVED protein-coding HGNC:16461 18293 REVIEWED 1625137 WBP11P1 WW domain binding protein 11 pseudogene 1 18 18 18 q12.1 26898592 26901563 + 30091626 30094597 + 32511663 32514634 + 12477932 441818 ABBA01022484;AC009835;AMYH02034524;BC059403;NR_003558 Hs.549773 HsT3017 pseudo ENSG00000260389 HGNC:26250 PROVISIONAL 1347655 WASL Wiskott-Aldrich syndrome-like This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013] 7 7 7 q31.3 118125741 118192900 - 123321981 123389125 - 123681927 123749071 - 1299640;1580863;6480464;6484113;6907045 9322739 10087612;10381382;10467124;10491394;10563804;10704453;10724160;10781580;10867004;11052943;11082044;11146629;11179684;11231575;11331876;11340081;11584276;11698281;11830518;12372256;12437929;12456725;12477932;12672817;12732638;12853948;12871950;12872157;14506234;14702039;14732713;15102814;15169891;15260990;15489334;15699051;15791211;15894313;16055720;16246732;16253999;16293614;16344560;16418535;16531231;16687395;16767080;16885158;17085436;17474147;17573773;17985201;18029348;18191793;18388313;18430734;18662323;18667055;18708039;19056867;19213734;19262673;19322201;19531213;20095995;20146487;20678498;20730103;20880986;20936779;21533546;21610097;21677511;21706016;21769917;21785420;21832049;21988832;22139419;22558309;22559840;22585739;22847007;22939629;23212915;23273897;23549080;23690407;23760605;23793025;24069415;24284073;24550385;24639526;9422512;9582270;9822597;9950691 8976 O00401 ABBA01057728;ABBA01057729;AC006333;AK023554;AK131016;AK289795;AM295156;AMYH02016683;BC013776;BC028602;BC052955;CB990698;CF593336;CH236947;CH471070;CR749438;D88460;DB380642;E15468;NM_003941 AAH52955;BAA20128;BAF82484;CAH18276;CAL26602;EAL24333;EAW83599;NP_003932;O00401 Hs.143728;Hs.731519 1336398;1754709;1757465;1773619;2146062;7187509 D7S2879;D7S487;RH69244;SHGC-144840;SHGC-152662 DKFZp779G0847;MGC48327;N-WASP;NWASP OTTHUMP00000211994;Wiskott-Aldrich syndrome gene-like;neural Wiskott-Aldrich syndrome protein APPROVED protein-coding ENSG00000106299 HGNC:12735 05448 605056 REVIEWED 6483731 WBP1LP2 WW domain binding protein 1-like pseudogene 2 7 7 7 102074220 102075404 + 107268911 107269992 + 107628466 107629547 + 100506330 ABBA01057906;AC078937;AMYH02016516;NG_029261 1690288 RH91995 pseudo HGNC:43949 INFERRED 1314041 WBP1L WW domain binding protein 1-like ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; benzo[a]pyrene 10 10 10 q24.32 98244781 98316734 + 104503727 104576022 + 102743970 102816264 + 6480464;8554872 12477932;12934113;14702039;15164054;15489334;16344560;16385451;16709928;16712791;21139048;21906983;22120523;22990118;23535732;23974872;8619474;9110174 54838 Q9NX94;Q9NXM7 ABBA01063132;ABBA01063133;ABBA01063134;ABBA01063135;ABBA01063136;AF070644;AK000161;AK000374;AK056285;AK300871;AK308843;AK316452;AL353727;AL358790;AL391121;AMYH02023705;AMYH02023706;AMYH02023707;AMYH02023708;AMYH02023709;AMYH02023710;AU253840;AY656171;AY656172;AY656174;AY656175;BC010506;BC063659;BC073886;BC113857;BC114465;BE207569;BI601510;BQ924256;CB130248;CF455358;CH471066;CX163170;DA797839;NM_001083913;NM_017787 AAI13858;AAI14466;AAV68559;AAV68560;AAV68561;AAV68562;BAA90983;BAA91122;BAG51666;BAH13363;BAH14823;EAW49673;EAW49674;NP_001077382;NP_060257;Q9NX94 Hs.500897;Hs.693257;Hs.707763 1781984;1855933;2129275 D16S3342;RH64833;SHGC-144687 C10orf26;FLJ20154;FLJ20367;MGC125648;OPA1L;OPAL1 OTTHUMP00000020381;outcome predictor in acute leukemia 1 APPROVED protein-coding ENSG00000166272 HGNC:23510 12567 611129 VALIDATED 1348215 WBP2 WW domain binding protein 2 The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein, which binds to the WW domain of Yes kinase-associated protein by its PY motifs. The function of this protein has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 q25 70431829 70441550 - 73841780 73851501 - 75845699 75855420 - 1580863;6480464;8554872 11042109;12477932;14531730;14702039;15489334;16055720;16094384;16169070;16196087;16344560;16751776;16772533;18624398;19364824;19953087;20972459;21139048;21399621;21906983;21963094;21981024;22939629;23000965;23233354;23824909;24255178;24550385;24654937;25036637;7644498;9169421;9202023 23558 A6NG10;B4DFG2;K7EIJ0;K7EIK1;K7EIN1;K7EJ75;K7EMC9;K7ENL2;K7ESN4;Q969T9 ABBA01028767;AC087289;AF087866;AK057881;AK094458;AK128407;AK293214;AK294082;AK294155;AK300875;AL049981;AMYH02034001;BC007452;BC010616;CH471099;DA278794;DQ570783;NM_012478 AAH07452;AAH10616;AAP97175;ABM81978;ABM85157;BAG56753;BAG57423;BAG57479;BAG62519;CAH56417;EAW89325;EAW89326;EAW89327;EAW89328;EAW89329;NP_036610;Q969T9 Hs.514489 1694466;2110035;5037552 D8S2279;G42954;WBP2_9370 MGC18269;WBP-2 WW domain-binding protein 2 APPROVED protein-coding ENSG00000132471 HGNC:12738 06097 606962 REVIEWED 2301390 WBP2P1 WW domain binding protein 2 pseudogene 1 18 18 18 q11.2 19411377 19412147 - 22596397 22597167 - 25016433 25017203 - 11181995 147468 ABBA01022594;AC104961;AMYH02034441;CH471088;NG_006941 EAX01199 pseudo HGNC:31695 INFERRED 1344485 WBS2 Williams-Beuren syndrome type 2 1583646 7457 HGNC:12740 1352656 WBP5 WW domain binding protein 5 The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein. This gene also encodes a domain with similarity to the transcription elongation factor A, SII-related family. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] X X X q22.2 103050382 103052399 + 102611380 102613397 + 103356452 103358469 + 737633;6480464 12477932 10931946;15489334;15772651;16221301;17353931;21139048;21890473;21906983;21963094;22505724;23000965;9171351 51186 Q9UHQ7 ABBA01021041;AF125535;AK312190;AL833152;AMYH02040168;BC023544;BG400091;BQ003038;CH471190;NM_001006612;NM_001006613;NM_001006614;NM_016303;Z92846 AAF17229;AAH23544;ABZ92330;BAG35123;EAW54713;NP_001006613;NP_001006614;NP_001006615;NP_057387;Q9UHQ7 Hs.533287 2141480;2141482 A006A03;G20641 DKFZp313K1940;TCEAL9;WBP-5;WEX6 OTTHUMP00000023739;OTTHUMP00000023740;WW domain binding protein 1;WW domain-binding protein 5;pp21 homolog APPROVED protein-coding ENSG00000185222 HGNC:30084 06621 REVIEWED 1348548 WBP4 WW domain binding protein 4 This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008] 13 13 13 q14.11 22693135 22715573 + 41634973 41658142 + 41061561 41084006 + 727741;1580863;6480464 9724750 10748127;11604498;12477932;14702039;15057823;15489334;15837427;16055720;17500595;18029348;18854154;19592703;21917930;23000965;23266558;24816145;8605874;9171351 11193 O75554 ABBA01021283;AF071185;AK000979;AK001557;AK297536;AK314525;AL157877;AMYH02027917;BC104879;BC108310;CH471075;NM_007187;XM_005266245 AAC34811;AAI04880;AAI08311;BAG37119;BAG50940;BAH12608;EAX08643;EAX08644;NP_009118;O75554;XP_005266302 Hs.411300 2110037;2170229;5017757 A007J30;WBP4;WBP4_9240 FBP21;MGC117310;WBP-4 OTTHUMP00000018311;WW domain-binding protein 4;WW domain-containing binding protein 4;WW domain-containing-binding protein 4;domain-containing binding protein 4;formin binding protein 21;formin-binding protein 21 APPROVED protein-coding ENSG00000120688 HGNC:12739 16086 604981 REVIEWED 1351341 WBSCR2 Williams-Beuren syndrome chromosome region 2 8812460 7459 HGNC:12746 1604730 WBP2NL WBP2 N-terminal like WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008] 22 22 22 q13.2 26200953 26230676 + 42391607 42428935 + 41998725 42032931 + 6480464 12477932;15461802;16344560;17289678;24907910 164684 F5H7L2;F8WCF8;F8WDR4;Q6ICG8 ABBA01055660;ABBA01055661;AF393575;AK128138;AK129656;AK296138;AMYH02038451;AMYH02038452;BC022546;BC022549;CH471095;CR456400;DB079211;NM_152613;XR_244353;XR_244354;XR_430402;Z99716 AAH22546;AAH22549;AAQ02873;BAG54636;BAG58880;CAG30286;EAW60483;NP_689826;Q6ICG8 Hs.655541 1662902;1687323;2160451 AL008657;D22S1261;D22S410E FLJ26145;MGC26816;PAWP OTTHUMP00000199645;OTTHUMP00000199646;OTTHUMP00000199647;OTTHUMP00000199648;WW domain-binding protein 2-like;postacrosomal sheath WW domain-binding protein APPROVED protein-coding ENSG00000183066 HGNC:28389 14512 610981 VALIDATED 1354166 WBSCR23 Williams-Beuren syndrome chromosome region 23 This gene is intronless and mapped to the commonly deleted region for Williams-Beuren Syndrome. q11.23 1580863 12477932;12853948;14702039 80112 A0AVD7;Q9H6D5 AC004851;AK026020;BC126309;CH471200;NM_001039145 A0AVD7;AAI26310;AAS00363;BAB15324;EAW69602;NP_001034234;Q9H6D5 Hs.677364 FLJ22367 protein-coding HGNC:16498 15660 1347580 WBSCR25 Williams Beuren syndrome chromosome region 25 171021 HGNC:18288 1342451 WBSCR17 Williams-Beuren syndrome chromosome region 17 This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013] 7 7 7 q11.23 63974185 64554073 + 70597523 71178586 + 71132537 71713601 + 6480464;6907045;8554872 11013070;12073013;12477932;12690205;14702039;15489334;15744064;19240061;20379614;22566498;22787146;23377640;7566098 64409 H7BZX9;Q2L4S5;Q6IS24 AB078148;ABBA01064015;ABBA01064016;ABBA01064017;ABBA01064018;ABBA01064019;ABBA01064020;ABBA01064021;ABBA01064022;ABBA01064023;AC004874;AC004963;AC073330;AC079398;AC091731;AC092021;AF410457;AJ626726;AK022143;AK091379;AK094958;AK126044;AK290036;AL137431;AMYH02015993;AMYH02015994;AMYH02015995;AMYH02015996;AMYH02015997;AMYH02015998;AMYH02015999;AMYH02016000;BC067524;BC067525;BC069624;BC069628;BC069636;BC069645;BC069997;BE669980;CH236952;CH471140;CR749675;KF511044;NM_022479 AAH67524;AAH67525;AAH69624;AAH69628;AAH69636;AAH69645;AAH69997;AAM62306;BAD93180;BAF82725;BAG52344;BAG52964;BAG54282;CAB70734;CAF25037;CAH18466;EAL23969;EAX07897;EAX07898;EAX07899;EAX07900;NP_071924;Q6IS24 Hs.488591 1339563;1653337;1654048;1655936;1674159;1689149;1750987;1779248;1786504;1786508;1851548;1854595;1855693;1855784;1856611;2143835;2146826;2165016;2165643;5094422 D7S1407;D7S1568;D7S1979;D7S2270E;D7S2516;G17161;G54788;GDB:1317364;GDB:3754866;GDB:3778209;GDB:4584959;GDB:4585200;RH65189;RH66296;SHGC-104886;SHGC-153010;SHGC-83093;SHGC-84166;STS-H15176;WI-20075 DKFZp434I2216;DKFZp761D2324;GALNACT17;GALNT16;GALNT20;GALNTL3;GalNAc-T5L OTTHUMP00000160211;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16;galNAc-T-like protein 3;polypeptide GalNAc transferase 3;polypeptide GalNAc transferase-like protein 3;polypeptide N-acetylgalactosaminyltransferase WBSCR17;polypeptide N-acetylgalactosaminyltransferase-like 3;pp-GaNTase-like protein 3;pp-GalNAc-transferase 20;protein-UDP acetylgalactosaminyltransferase-like protein 3;putative polypeptide N-acetylgalactosaminyltransferase-like protein 3;williams-Beuren syndrome chromosomal region 17 protein APPROVED protein-coding ENSG00000185274 HGNC:16347 15655 615137 REVIEWED 1316823 WBSCR16 Williams-Beuren syndrome chromosome region 16 This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 7 7 7 q11.23 68097529 68130598 - 74441223 74489717 - 75027119 75073881 - 1580600;1580863;6480464 12073013 11076863;11230166;12477932;12853948;15489334;15489336;16381901;18624398;20186120;21139048;21906983;21988832;22939629;22990118;23275563 81554 Q96I51 ABBA01014633;ABBA01014634;AC118138;AC124781;AC245150;AF410455;AI701939;AK057870;AK309117;AL136804;AL536085;BC007823;BC019008;BC032712;BC040695;BC157844;BU625907;CH471292;NM_001281441;NM_030798;NM_148842 AAH07823;AAH19008;AAH32712;AAH40695;AAI57845;AAM62304;ABM84095;CAB66738;CAL37561;EAW52090;EAW52091;EAW52092;NP_001268370;NP_110425;NP_683682;Q96I51 Hs.529623;Hs.723684 1684950;1768303;1790427;1791149;2150838;2160106;2174042;5110708 A002S25;D7S1411;D7S3286;GDB:4585211;RH93206;SHGC-31781;SHGC-56087;WBStel1_(HSC246) DKFZp434D0421;MGC189739;MGC44931 OTTHUMP00000160908;RCC1-like G exchanging factor-like protein;Williams-Beuren syndrome chromosomal region 16 protein APPROVED protein-coding ENSG00000274523 HGNC:14948 15654 REVIEWED 1602434 WBSCR28 Williams-Beuren syndrome chromosome region 28 FOUND IN integral component of membrane (inferred); INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; 3,4-methylenedioxymethamphetamine (ortholog); cefaloridine (ortholog) 7 7 7 q11.23 68754191 68758926 + 73275489 73280223 + 73861159 73865893 + 6480464 12477932;23824909;8812460 135886 Q6UE05 AA426067;ABBA01063934;ABBA01063935;AC093168;AMYH02016031;AY372053;AY372054;BC030643;CH471200;HC007380;HC044591;NM_182504 AAH30643;AAQ74835;AAQ74836;ACT64528;ACT64529;CBH19495;CBH30625;EAW69637;NP_872310;Q6UE05 Hs.647026 1676268;1746477 G64384;RH99041 MGC26719 OTTHUMP00000211821;Williams-Beuren syndrome chromosomal region 28 protein;Williams-Beuren syndrome critical region 28 protein-coding ENSG00000175877 HGNC:23018 15662 612547 VALIDATED 1352777 WBSCR27 Williams Beuren syndrome chromosome region 27 This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68727572 68735487 - 73248920 73256855 - 73834590 73842525 - 6480464 12477932;15489334;15961456;18398435;21906983;23455924 155368 B4DWM3;Q8N6F8 ABBA01063936;ABBA01063937;AC093168;AF534110;AK301597;AMYH02016030;AY354928;BC030295;CH471200;NG_023289;NM_152559 AAH30295;AAN63884;AAQ55828;ABM85581;BAG63085;EAW69638;NP_689772;Q8N6F8 Hs.647042 MGC40131 OTTHUMP00000160508;Williams-Beuren syndrome chromosomal region 27 protein APPROVED protein-coding ENSG00000165171 HGNC:19068 15661 612546 REVIEWED 1353299 WBSCR3 Williams-Beuren syndrome chromosome region 3 8812460 7460 HGNC:12747 1314357 WDFY1 WD repeat and FYVE domain containing 1 The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate (PtdIns(3)P)-containing membranes. This gene encodes a protein which contains a single FYVE domain and multiple WD40 repeats. This protein is localized to endosomes. [provided by RefSeq, Jul 2008] 2 2 2 q36.1 218505977 218575969 - 224740065 224810104 - 223875348 223945335 - 6480464 10718198;11739631;12477932;14702039;15489334;17207965;19322201;22939629;24654937 57590 C9JJ54;Q8IWB7;Q9H8N9 AA411290;AB037856;ABBA01023779;ABBA01023780;ABBA01023781;ABBA01023782;ABBA01023783;AC073641;AF411977;AJ310568;AK022888;AK023415;AMYH02005879;AMYH02005880;AMYH02005881;AMYH02005882;BC040525;BC065934;BF223120;CH471063;N27710;NM_020830 AAH40525;AAH65934;AAL04161;AAY14924;ADQ32465;BAA92673;BAB14294;BAB14569;CAC83947;EAW70817;EAW70818;NP_065881;Q8IWB7 Hs.368359 1651782;1673846;1700540;1725117;2107765;2142443;5491515 MARC_16705-16706:1018020718:3;RH103891;RH118856;SGC33461;WDFY1__5083;WI-11505;WI-12299 FENS-1;WDF1;ZFYVE17 OTTHUMP00000203772;WD repeat and FYVE domain-containing protein 1;WD40 and FYVE domain containing 1;WD40- and FYVE domain-containing protein 1;phosphoinositide-binding protein 1;phosphoinositide-binding protein SR1;zinc finger FYVE domain-containing protein 17 APPROVED protein-coding ENSG00000085449 HGNC:20451 15663 REVIEWED 1316474 WDFY2 WD repeat and FYVE domain containing 2 This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008] 13 13 13 q14.3 33207683 33385373 + 52158484 52340935 + 51584348 51762035 + 6480464 12477932;14702039;15489334;16344560;16792529;16873553;17207965;17313651;24250222 115825 Q96LK4;Q96P53 ABBA01051050;ABBA01051051;AF411978;AK058149;AK093224;AK095358;AK309815;AK311177;AL136525;AL139183;AMYH02028034;AMYH02028035;AMYH02028036;AMYH02028037;BC014004;CH471075;DA124107;NM_052950;XM_006719764;XR_429213 AAH14004;AAL04162;ADQ32635;BAB71687;EAX08883;NP_443182;Q96P53;XP_006719827 Hs.208550;Hs.46506 1652916;1676113;1693940;1718095;1760441;2113430;2142424;2173094;5093918 A009Y48;D13S1683;D13S1779;G33000;G42664;G57756;RH68761;RH80537;SHGC-142696 PROF;RP11-147H23.1;WDF2;ZFYVE22 OTTHUMP00000018795;WD repeat and FYVE domain-containing protein 2;WD40 and FYVE domain containing 2;WD40- and FYVE domain-containing protein 2;propeller-FYVE protein;zinc finger FYVE domain-containing protein 22 APPROVED protein-coding HGNC:20482 18294 610418 REVIEWED 6481372 WDFY3-AS1 WDFY3 antisense RNA 1 100874023 AC095046 APPROVED ncrna HGNC:40935 2290199 WDFY3-AS2 WDFY3 antisense RNA 2 INTERACTS WITH (+)-catechin; valproic acid 4 4 4 q21.3 83178285 83218557 + 85887895 85929896 + 84966818 85007015 + 6480464 12136098;12477932;14702039;15580561 404201 ABBA01063485;ABBA01063486;AC108021;AJ333364;AK124663;AMYH02009638;AY250185;BC019264;BC033127;BC101193;BC101194;BC101195;BC101196;CH471057;NR_015359 AAP76295;EAX05957;EAX05958 Hs.720920 1646303;1680413;1715783;1719561;1857598;2165857;2220660 D4S1204;RH119340;RH123684;RH93412;SHGC-50898;SHGC-53374;UniSTS:487344 C4orf12;FBI4;MGC120078;MGC120079;NCRNA00247 APPROVED ncrna ENSG00000180769 HGNC:21603 13317 PREDICTED 1344086 WBSCR22 Williams Beuren syndrome chromosome region 22 This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011] 7 7 7 q11.23 68576112 68590746 + 73097898 73112551 + 73683568 73698221 + 1580601;1580863;6480464;6907045;8554872 11978965 11124703;12073013;12477932;12853948;14702039;15342556;15489334;15498874;15635413;16341674;16344560;17207965;17213182;19471022;20972266;21139048;21145461;21148752;21890473;21906983;21963094;21988832;22505724;22939629;23000965;24086612;24488492;8889548;8889549 114049 B3KR83;E9PCQ7;F2Z3D9;F8WD67;F8WD87;H7C0G4;H7C170;H7C439;O43709;Q75ME3 AA099700;AA508840;ABBA01063942;AC073846;AF218007;AF412034;AF420248;AJ224442;AK091162;AK126224;AK291116;AK296375;AK309574;AK315032;AMYH02016029;BC000169;BC001780;BC011696;BG108222;BM671506;BM794274;BP280183;BQ927478;BQ930813;BQ961799;CH471200;DB276687;DT220127;NM_001202560;NM_017528;NR_037776;NR_045512;XM_006715847;XM_006715848 AAG17249;AAH00169;AAH01780;AAH11696;AAL16066;AAM62316;AAS07473;AAS07474;ADQ31623;BAF83805;BAG37517;BAG52295;BAG59049;CAA11944;EAW69656;EAW69657;NP_001189489;NP_059998;O43709;XP_006715910;XP_006715911 Hs.647063 1673110;1700118;1780058;2107763 RH103672;SHGC-154307;SHGC-56098;WBSCR18__5080 FLJ44236;HASJ4442;HUSSY-3;MERM1;MGC19709;MGC2022;MGC5140;PP3381;WBMT OTTHUMP00000160499;OTTHUMP00000211784;Williams Beuren syndrome chromosome region 22 protein;Williams-Beuren candidate region putative methyltransferase;Williams-Beuren syndrome chromosomal region 22 protein;metastasis-related methyltransferase 1;ribosome biogenesis methyltransferase WBSCR22;uncharacterized methyltransferase WBSCR22 APPROVED protein-coding ENSG00000071462 HGNC:16405 15659 615733 REVIEWED 1316086 WDFY3 WD repeat and FYVE domain containing 3 This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010] 4 4 4 q21.23 82881176 83177858 - 85590690 85887544 - 84669537 84966391 - 6480464 10231032;12168954;12477932;14702039;15292400;15489334;17207965;17452356;20168092;20379614;20417604;20493804;20971078;21139048;21150266;21890473;21906983;23455922;23455924;23824909;24128730;8619474;8889548;9110174;9847074 23001 D6RJE4;H0Y9T6;H0YAD8;Q8IZQ1 AB023210;ABBA01063483;ABBA01063484;ABBA01063485;AC095046;AC104082;AC108021;AC110806;AF131845;AF538685;AI393222;AI962188;AK055806;AK092019;AK092394;AK094910;AMYH02009633;AMYH02009634;AMYH02009635;AMYH02009636;AMYH02009637;AMYH02009638;BC013377;BC015214;BC065502;BC119633;BC148294;BC148298;BC150246;BE221984;BM676710;BQ003872;BX648077;BX648153;CH471057;EF491804;EF491819;NM_014991;XM_005262858;XM_006714151;XM_006714152 AAH13377;AAH15214;AAH65502;AAI19634;AAI48295;AAI48299;AAI50247;AAN15137;AAY40903;ADQ31600;BAA76837;BAB71020;BAC04455;EAX05952;EAX05953;EAX05954;EAX05955;EAX05956;NP_055806;Q8IZQ1;XP_005262915;XP_006714214;XP_006714215 Hs.480116;Hs.726339 1647193;1654443;1665584;1674367;1679924;1856934;2117001;2130875;2157640;2220660;5093072 A009F15;G32503;RH98912;SHGC-24706;SHGC-36045;SHGC-59568;SHGC-59794;SHGC-60031;SHGC-67812;STS-N26993;UniSTS:487344 ALFY;KIAA0993;MGC16461;ZFYVE25 OTTHUMP00000160978;WD repeat and FYVE domain-containing protein 3;autophagy-linked FYVE protein APPROVED protein-coding ENSG00000163625 HGNC:20751 10304 REVIEWED 6769088 WDR11-AS1 WDR11 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 10 10 10 q26.13 116252602 116342872 - 122521324 122610691 - 120761812 120851179 - 8554872 14702039;23251661 283089 ABBA01062871;ABBA01062872;ABBA01062873;AK094649;AL391425;AMYH02023928;AMYH02023929;AMYH02023930;BC043378;HG503310;HG503312;NR_033850 Hs.568750 1782174;5015861;5024761;5037552;5118444;7185938 D10S16;D11S3316;D8S2279;RH36905;SHGC-155977 RP11-323P17.1 APPROVED ncrna ENSG00000227165 HGNC:27437 VALIDATED 1603046 WDPCP WD repeat containing planar cell polarity effector This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] 2 2 2 p15 63193063 63660892 - 63348518 63815867 - 63121383 63588733 - 6480464;8699517;8554872 12477932;14702039;15654087;18464913;19913121;20301537;20628086;20671153;21642631;22004009;23251661;8619474;9110174 51057 C9JDS5;E9PFG9;F8WBT2;H7BZ13;H7C375;O95876 ABBA01075398;ABBA01075399;ABBA01075400;ABBA01075401;ABBA01075402;ABBA01075403;ABBA01075404;AC009501;AC016734;AC067953;AC074367;AC079353;AF131737;AK001849;AK022647;AK055030;AK309028;AK310290;AL833623;AMYH02003955;AMYH02003956;AMYH02003957;BC093752;BC093754;BC143426;BX538331;BX647132;CH471053;KF510823;NG_028144;NM_001042692;NM_015910;NR_122106;XM_005264348;XM_005264349;XM_005264350;XR_244934;XR_244935;XR_244936 AAD20026;AAH93752;AAH93754;AAX93089;AAX93096;AAY24034;AAY24358;BAG51100;CAD98100;EAW99964;EAW99965;NP_001036157;NP_056994;O95876;XP_005264405;XP_005264406;XP_005264407 Hs.414952 1659947;1716901;1731799;1739033;1787706;2136282;2143653;2185367;5015607;5015609;5022637;5022651;5024266;5109913;5118412 D11S2715;D11S2766;D11S2921;D11S3014;D11S3026;D11S3270;D2S1745;D2S1885;D2S2753;D2S402;RH12136;RH121743;RH36254;SHGC-15055;SHGC-172996 BBS15;C2orf86;DKFZp686C12204;FRITZ;FRTZ;hFrtz Bardet-Biedl syndrome 15 protein;OTTHUMP00000201953;OTTHUMP00000201980;OTTHUMP00000201982;OTTHUMP00000201983;OTTHUMP00000201984;OTTHUMP00000201985;WD repeat-containing and planar cell polarity effector protein;WD repeat-containing and planar cell polarity effector protein fritz homolog;WD repeat-containing protein C2orf86 APPROVED protein-coding ENSG00000143951 HGNC:28027 14228 209900;613580 REVIEWED 1314033 WDR1 WD repeat domain 1 This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 10558329 10600940 - 10075963 10118612 - 10074339 10116949 - 1580863;6480464 10036186;10366597;12477932;12665801;14630798;15231747;15489334;15592455;15629458;16009940;1602151;17293856;18179892;18494608;18624398;18781797;19056867;19165527;19818632;20631256;21139048;21294900;21319273;21890473;21900206;21906983;21943158;21963094;22229870;22505724;22863883;22939629;23000965;23215816;23293323;23382044;23524849;23707566;23824909;24250222;24654937;24816145;25011449;25027693;6457647;8125298 9948 D6RD66;O75083;V9HWG7 AB010427;AB209746;ABBA01032511;ABBA01032512;ABBA01032513;ABBA01032514;ABBA01032515;AC005674;AC093664;AF020056;AF020260;AF274954;AK127665;AK222764;AK222897;AK225276;AK291614;AK299602;AK302209;AK303132;AL050108;AL110208;AMYH02008744;AMYH02008745;BC000201;BC002489;BC030541;BG724171;BI831941;BX648190;CH471069;EU794675;NG_027876;NM_005112;NM_017491;XM_006713988 AAD05044;AAD05045;AAH00201;AAH02489;AAH30541;AAK07530;ACJ13729;BAA31855;BAD92983;BAD96484;BAD96617;BAF84303;BAG54546;BAG61533;BAG63567;BAG64237;CAB43276;CAB53674;EAW92686;EAW92687;EAW92688;EAW92689;NP_005103;NP_059830;O75083;XP_006714051 Hs.128548 1645075;1731471;1853626;2122204;2166261;2174957;2189231 D4S438E;G41952;G65140;SHGC-33408;SHGC-67675;SHGC-67857;STS-M78652 AIP1;HEL-S-52;NORI-1 OTTHUMP00000217863;OTTHUMP00000217864;WD repeat-containing protein 1;actin interacting protein 1;actin-interacting protein 1;epididymis secretory protein Li 52 APPROVED protein-coding ENSG00000071127 HGNC:12754 09199 604734 REVIEWED 1350991 WDFY4 WDFY family member 4 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH benzo[a]pyrene; ethyl methanesulfonate; formaldehyde 10 10 10 q11.23 43479368 43776620 + 49892907 50191001 + 48684862 48982956 + 737633;6480464;8554872 12477932 10997877;11181995;14702039;15489334;16385451;17903303;18519826;19165918;19838193;20169177;20379614;21890473;22041458;22972472;23273568;24390342;25011449;8889548 57705 H3BLT2;H7BYA1;Q6ZS81 AB046827;ABBA01047227;ABBA01047228;ABBA01047229;ABBA01047230;ABBA01047231;AC035139;AC060234;AC068898;AK024502;AK074085;AK074443;AK093607;AK127650;AK301736;AK310374;AL833669;AMYH02022981;BC015694;BC032420;BC034937;BC047574;BM470200;CF142817;CH471187;JA738647;NM_020945;XM_005270004;XM_005270005;XM_005270006;XM_005270007 AAH15694;AAH32420;AAH34937;AAH47574;BAB13433;BAB15792;BAB84911;BAC87073;BAG63201;CCF76976;EAW93117;EAW93118;EAW93119;EAW93120;EAW93121;EAW93122;NP_065996;Q6ZS81;XP_005270061;XP_005270062;XP_005270063;XP_005270064 Hs.287379 1335089;1340447;1712717;1716747;1759243;1759355;1765749;1766865;1771301;1782010;2136349;5019196 D10S1772;D10S1793;RH104460;RH121055;RH121666;SHGC-13327;SHGC-147577;SHGC-149181;SHGC-150840;SHGC-151177;SHGC-152280;WI-10599 C10orf64;FLJ17416;FLJ36288;FLJ45748;KIAA1607;MGC40604;MGC45899 OTTHUMP00000019564;WD repeat- and FYVE domain-containing protein 4 protein-coding ENSG00000128815 HGNC:29323 613316 VALIDATED 1318273 WDR11 WD repeat domain 11 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008] 10 10 10 q26 116342868 116401238 + 122610687 122669038 + 120851175 120909526 + 1580863;6480464;8699517;8554872;7240710 10718198;11536051;12477932;12684685;12684693;14702039;15164054;15489334;16385451;17897319;18775313;19946888;20562859;20887964;21139048;21822266;21890473;21906983;22589738;23022380;23251661;24105470 55717 Q659C9;Q9BZH6;S4R3P9;S4R3Z0;S4R451 AB037772;ABBA01062871;AC010998;AF320223;AK000579;AK001368;AK025050;AK124522;AK299524;AK301761;AK315145;AL137699;AL391425;AMYH02023930;BC040469;BC071564;BI912281;CH471066;DC342128;NG_023290;NM_018117;W16996;XM_005269962;XM_005269963;XM_005269964;XR_246098;XR_428707 AAH40469;AAH71564;AAK08064;BAA91269;BAA91652;BAA92589;BAG37593;BAG61474;BAG63221;CAH56385;EAW49363;EAW49364;EAW49365;EAW49366;NP_060587;Q9BZH6;XP_005270019;XP_005270020;XP_005270021 Hs.144447 1679726;1705988;2115516;2117599;2117733;2139338;2159204;2176370;5022651 D11S2921;RH44312;RH81052;SHGC-36304;SHGC-36479;SHGC-64316;SHGC-78627;STS-H54750;STS-R08557 BRWD2;DKFZp434L1715;DR11;FLJ42531;HH14;WDR15 OTTHUMP00000020620;WD repeat domain 15;WD repeat-containing protein 11;WD repeat-containing protein 15;WD40 repeat domain 11 protein;bromodomain and WD repeat domain containing 2;bromodomain and WD repeat-containing protein 2 APPROVED protein-coding ENSG00000120008 HGNC:13831 16218 606417;614858 REVIEWED 1320961 WDHD1 WD repeat and HMG-box DNA binding protein 1 The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 14 14 14 q22.2 35455145 35543313 - 55405656 55493819 - 54938938 55027101 - 1580863;6480464;8554872 12477932;14702039;15302935;15489334;16051665;16344560;17081983;17761813;18029348;19423540;19439411;19471022;19805216;20028748;20089864;20379614;20406964;20438785;21139048;21252943;21725360;21890473;21906983;21987584;22505724;22863883;22939629;22990118;23000965;23093411;23184928;23862649;24250222;24255107;24332808;24816145;9175701 11169 C9JYB3;H3BSQ1;O75717 ABBA01018200;AJ006266;AK001538;AK001585;AK001620;AK293005;AL160471;AMYH02029227;AMYH02029228;AMYH02029229;AMYH02029230;AY517556;BC000622;BC005040;BC043349;BC063041;BQ420741;CB053003;CH471061;DA189308;DB082418;NM_001008396;NM_007086;XM_005267294;XM_006720012 AAH00622;AAH05040;AAH43349;AAH63041;AAT44529;BAF85694;BAG50934;BAG50944;BAG50951;CAA06932;EAW80654;NP_001008397;NP_009017;O75717;XP_005267351;XP_006720075 Hs.385998 1661600;1698466;1701612;1717837;2136576 G35898;RH102782;RH104447;RH121830;RH45114 AND-1;CHTF4;CTF4 Acidic nucleoplasmic DNA-binding protein 1;CTF4, chromosome transmission fidelity factor 4 homolog;OTTHUMP00000178995;WD repeat and HMG-box DNA-binding protein 1 APPROVED protein-coding ENSG00000198554 HGNC:23170 10483 608126 REVIEWED 1347566 WDR13 WD repeat domain 13 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is widely expressed in various tissues. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2009] X X X p11.23 53202158 53209859 - 48455880 48463582 + 48590270 48605194 + 1580863;6480464 12477932;12659815;14702039;15489334;15761153;17207965;18029348;21906983;21987572;24250222;8125298 64743 Q9H1Z4 ABBA01046025;ABBA01046026;ABBA01046027;AC115618;AF149817;AF158978;AF329819;AK000570;AK225542;AK301186;AK314739;AMYH02039305;BC002507;BC067094;BC080579;BI554303;BX649101;CH471224;DQ907252;DQ907253;DQ907254;DQ907255;KF459106;L08237;NG_015879;NM_001166426;NM_017883;NR_029427;XM_006724539;XM_006724540;XM_006724541 AAA74509;AAG47845;AAH02507;AAH67094;AAH80579;AAK13247;ABI93266;ABI93267;ABI93268;ABI93269;ACE87070;ACE87751;ADQ32017;BAA91261;BAG37280;BAG62769;EAW50760;EAW50761;EAW50762;NP_001159898;NP_060353;Q9H1Z4;XP_006724602;XP_006724603;XP_006724604 Hs.521973 1651917;1701710;2112846;2124226;5014051;5037552;5491619 A007K03;D8S2278;D8S2279;DXS7467E;DXS9867E;MARC_26104-26105:1032794768:1;RH17605 DKFZp779C2057;FLJ20563;MG21 OTTHUMP00000025798;OTTHUMP00000025799;WD repeat-containing protein 13 APPROVED protein-coding ENSG00000101940 HGNC:14352 06753 300512 REVIEWED 1353160 WDR12 WD repeat domain 12 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008] 2 2 2 q33.2 197498009 197529627 - 203745323 203776949 - 202880600 202912226 - 1580863;6480464 11790298;11827460;12429849;12477932;14702039;15489334;15635413;16043514;16738141;17041588;17353269;18258596;19198609;19471022;20738937;20971364;21139048;21378990;21890473;22586326;22863883;22939629;22952844;24262325;24457600;24816145 55759 Q53T99;Q9GZL7 ABBA01062591;AC010900;AF242546;AK001743;AK022781;AK022782;AK056092;AK299489;AMYH02005582;AMYH02005583;AMYH02005584;BC008082;BU633688;CH471063;EF011617;NM_018256 AAF60355;AAH08082;AAY24287;ABK41107;ABM83800;ABM87122;BAA91875;BAB14242;BAB14243;BAG51621;BAG61449;EAW70318;EAW70319;NP_060726;Q9GZL7 Hs.73291 1675441;1727833 G63182;RH65532 FLJ10881;FLJ12719;FLJ12720;YTM1 OTTHUMP00000163754;WD repeat-containing protein 12;ribosome biogenesis protein WDR12 APPROVED protein-coding HGNC:14098 18295 REVIEWED 1321673 WDR18 WD repeat domain 18 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 916678 926912 + 984328 994569 + 984328 994570 + 6480464;8554872 11790298;12477932;15057824;15489334;15635413;16169070;19615732;20360068;21139048;21145461;21182205;21326211;21549307;21900206;21906983;21963094;22190735;22505724;22586326;22939629;22990118;23602568;24654937;24778252;25027693 57418 K7EIR0;K7EKX5;K7EML4;Q9BV38;U3KQC1;U3KQK3;U3KQQ3 ABBA01002616;AC004528;AC005391;AK131009;AL560525;AMYH02035131;BC000040;BC001648;CB991338;CH471139;KF511282;NM_024100 AAC12679;AAH00040;AAH01648;EAW69578;NP_077005;Q9BV38 Hs.325321 Ipi3;MGC2436;R32184_1 Involved in Processing ITS2 3 homolog;WD repeat-containing protein 18 APPROVED protein-coding ENSG00000065268 HGNC:17956 18296 REVIEWED 1349408 WDR17 WD repeat domain 17 This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009] 4 4 4 q34 174315002 174431966 + 176986985 177103979 + 176065834 176182828 + 6480464;8554872 12401215;12477932;15342556;17286855;19727342;20379614 116966 E7ESC9;E9PFA2;H0YAE4;H0YAG1;Q8IZU2 ABBA01070410;AC093605;AF492460;AK098748;AK130128;AMYH02010550;AMYH02010551;AMYH02010552;BC118549;BC118627;BC146812;BI713506;BI713775;BM875452;BQ270403;BX648508;CH471056;DB443937;DQ426895;DQ426896;NM_170710;NM_181265;XM_005262722;XM_005262723;XM_005262725;XM_006714078 AAI66623;AAN64030;ABD90546;ABD90547;BAC05402;EAX04723;NP_733828;NP_851782;Q8IZU2;XP_005262779;XP_005262780;XP_005262782;XP_006714141 Hs.532056;Hs.693278 1749249;2107767;5107143 G65596;SHGC-110938;WDR17__5085 FLJ26618 OTTHUMP00000218990;OTTHUMP00000218991;OTTHUMP00000218992;WD repeat-containing protein 17 APPROVED protein-coding HGNC:16661 16417 609005 REVIEWED 1353133 WDR19 WD repeat domain 19 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains six WD repeats, a clathrin heavy-chain repeat, and three transmembrane domains. This gene is conserved from C. elegans to human. It may participate in androgen-regulated signaling mechanisms or in the vesicular trafficking of androgen-regulated secretory processes. Alternatively spliced transcript variants encoding distinct isoforms have been reported but the full-length nature of one of these variants has not been defined. [provided by RefSeq, Jul 2008] 4 4 4 p14 39621888 39725263 + 39184024 39287430 + 39182404 39285810 + 6480464;8699517;8554872;7240710 10997877;12477932;12906858;14702039;15489334;18316561;20301743;21963094;22019273;23559409;23683095;24027799;24250222;8125298 57728 B4DGR6;D6R9P6;D6RAI4;D6RBA0;D6RCF7;D6RE75;D6RIE4;H0Y8K9;Q8NEZ3 AB046858;ABBA01004119;ABBA01004120;ABBA01004121;AC093855;AK026780;AK122908;AK225588;AK294730;AK296112;AK304161;AK308803;AMYH02009045;AMYH02009046;AMYH02009047;AMYH02009048;AMYH02009049;AY029257;BC032578;BC131501;CH471069;NG_031813;NM_025132;XM_005262658;XM_006714025;XM_006714026 AAH32578;AAI72278;AAK38745;BAB13464;BAB15550;BAG57877;BAG58861;BAG65048;EAW92915;EAW92916;EAW92917;EAW92918;EAW92919;EAW92920;EAW92921;NP_079408;Q8NEZ3;XP_005262715;XP_006714088;XP_006714089 Hs.438482 1690880;1731457;1856537;5014865;5022578;5109281;5109360 D12S1332;D17S1238;D1S1423;D1S1425;D4S642;RH98905;SHGC-68104 ATD5;CED4;DYF-2;FLJ23127;IFT144;KIAA1638;NPHP13;ORF26;Oseg6;PWDMP;SRTD5 OTTHUMP00000218257;WD repeat membrane protein PWDMP;WD repeat-containing protein 19;intraflagellar transport 144 homolog APPROVED protein-coding ENSG00000157796 HGNC:18340 10489 608151;614376;614377;614378;615377 REVIEWED 1606781 WDR25 WD repeat domain 25 INTERACTS WITH (-)-epigallocatechin 3-gallate; cyclosporin A; potassium chromate 14 14 14 q32.2 80897385 81051752 + 100842755 100996640 + 100376418 100530303 + 6480464 12477932;15489334;15587985;16189514 79446 G3V2K8;G3V367;H0YJW0;Q64LD2 ABBA01048526;ABBA01048527;ABBA01048528;ABBA01048529;ABBA01048530;AK291960;AL135838;AL845552;AMYH02029854;AMYH02029855;AMYH02029856;AMYH02029857;AY295082;BC003641;BC007953;BC067872;BX248767;CH471061;CT003969;NM_001161476;NM_024515;XM_005268056;XM_005268057;XM_005268058 AAH03641;AAQ63174;BAF84649;CAD66574;EAW81704;EAW81705;EAW81706;NP_001154948;NP_078791;Q64LD2;XP_005268113;XP_005268114;XP_005268115 Hs.497600 1645254;1674818;1774611;1777118;1855246;2106211;5093884 A007H17;A009Y18;D6S2780;G32980;G35906;RH15763;SHGC-34616 C14orf67;MGC4645 OTTHUMP00000246542;OTTHUMP00000246543;OTTHUMP00000246544;OTTHUMP00000246547;WD repeat-containing protein 25;pre-mRNA splicing factor-like protein-coding ENSG00000176473 HGNC:21064 14649 VALIDATED 1344935 WDR24 WD repeat domain 24 INTERACTS WITH benzo[a]pyrene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4,6-trinitrotoluene (ortholog) 16 16 16 p13.3 934859 940557 - 734622 740608 - 684702 690400 - 6480464 11076863;11157797;11230166;12477932;15489334;15489336;16189514;16381901;19615732 84219 B4DVM5;Q96S15 ABBA01030356;AE006464;AK301146;AL136863;AMYH02031202;BC008025;BC009761;CH471112;NM_032259;Z92544 AAH08025;AAH09761;AAK61244;BAG62737;CAB66797;CAL38177;EAW85751;EAW85752;EAW85753;NP_115635;Q96S15 Hs.459632 C16orf21;DKFZp434F054;JFP7 OTTHUMP00000115488;WD repeat-containing protein 24 protein-coding ENSG00000127580 HGNC:20852 15665 PROVISIONAL 1348746 WDR26 WD repeat domain 26 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 197763775 197812936 - 224572845 224622001 - 224385143 224434299 - 6480464 11483580;12477932;14702039;15146197;15378603;15489334;16196087;17041588;17081983;17620599;18029348;18775313;19446606;19542561;19615732;20171191;21042317;21139048;21183687;21320693;21890473;21900206;21906983;22065575;22797925;22863883;22939629;22990118;23000965;23402259;23625927;23667531;23956138;8125298;8889548 80232 C9JCS7;H0Y917;H0Y9R3;Q9H7D7 AB209887;ABBA01009695;ABBA01009696;AC099790;AF130049;AK023023;AK024669;AK027236;AK225061;AK299230;AK307909;AMYH02002773;AMYH02002774;AMYH02002775;AY221751;AY304473;BC031471;BC034498;BC041978;BC052301;BC063817;BF509638;BG744504;BU673957;CF786114;CH471098;CN283908;CT002105;EF011612;NM_001115113;NM_025160;XM_005273273;XM_006711817;XR_247043 AAG35477;AAH31471;AAH34498;AAH52301;AAH63817;AAO67709;AAQ74770;ABK41102;BAB14955;BAD93124;BAG61262;EAW69720;EAW69721;EAW69722;EAW69723;EAW69724;NP_001108585;NP_079436;Q9H7D7;XP_005273330;XP_006711880 Hs.497873;Hs.729289 1649144;1688074;1750491;1848132;1855795;1858106;2137810;2141953;2183667;5020948 AL009443;G35510;RH99062;SGC32093;SHGC-111798;SHGC-32811;SHGC-56807;SHGC-76410;SHGC-76417;SHGC-76418 CDW2;FLJ21016;GID7;MIP2 CUL4- and DDB1-associated WDR protein 2;GID complex subunit 7 homolog;OTTHUMP00000035756;WD repeat-containing protein 26;myocardial ischemic preconditioning up-regulated protein 2;myocardial ischemic preconditioning upregulated protein 2 APPROVED protein-coding ENSG00000162923 HGNC:21208 18298 REVIEWED 1351994 WDR27 WD repeat domain 27 FOUND IN nucleus; INTERACTS WITH lead(0); lead(2+); methyl methanesulfonate 6 6 6 q27 170567481 170812344 - 169857303 170102159 - 169457208 169702063 - 6480464 12477932;16344560;18925368;19913121;20041166;20379614;20451393;20628086;21980299 253769 A2RRH5;B4DDD4;F8VUY7;H7C3H5 ABBA01016112;ABBA01016113;ABBA01016114;ABBA01016115;ABBA01016116;ABBA01016117;ABBA01016118;AK128656;AK131435;AK293148;AL031315;AL135910;AL441927;AL513547;AMYH02015001;AMYH02015002;AW194823;BC035289;BC040606;BC073148;BC131633;BC142982;BX648854;CH471051;DB292377;DB457719;KF510271;NM_001202550;NM_182552;XM_006715433;XM_006715434;XM_006715435;XR_427967 A2RRH5;AAI31634;AAI42983;BAC87552;BAD18581;BAG56695;EAW47447;EAW47448;EAW47449;EAW47450;NP_001189479;NP_872358;XP_006715496;XP_006715497;XP_006715498 Hs.131903 1298145;1666454;1672773;1699876;1756169;1757763;1857919;2075148;2139882;2159401;2180631;2181966;7183786;7186771 AFM234YF4;AL022496;D6S281;REN108774;RH103546;RH16333;RH45974;RH46814;SHGC-143020;SHGC-146475;SHGC-35081;WI-18460 MGC43690 OTTHUMP00000242857;WD repeat-containing protein 27 protein-coding ENSG00000184465 HGNC:21248 11352 VALIDATED 1316699 WDR3 WD repeat domain 3 This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008] 1 1 1 p12 116700037 116730713 + 118472372 118503049 + 117929749 117960426 + 1580863;6480464;6907045 10395803;11790298;12429849;12477932;14702039;15342556;15635413;16169070;16565220;18029348;19471022;19615732;20392698;20578902;21139048;21252943;21693764;21890473;21906983;21963094;22174317;22178446;22505724;22586326;22939629;23049746;23667531;24332808;24457600;24816145;8889548;9628821 10885 Q5TDG3;Q6PDA5;Q9UNX4 AA258068;AB209201;ABBA01068504;AF083217;AK022858;AK292438;AL121993;AMYH02001801;BC058836;BP281064;BU685597;CH471122;KF455030;NM_006784 AAD45865;AAH58836;BAD92438;BAF85127;BAG51127;EAW56684;EAW56685;EAW56686;NP_006775;Q9UNX4 Hs.310809 1336043;2107769;2219492 D1S2669;PF6__5669;WDR3__5087 DIP2;FLJ12796;UTP12 OTTHUMP00000014051;WD repeat-containing protein 3;dJ776P7.2 (WD repeat domain 3) APPROVED protein-coding HGNC:12755 16066 604737 REVIEWED 1319678 WDR31 WD repeat domain 31 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 9 9 9 q32 86725549 86750228 - 116075502 116102620 - 113313222 113340340 - 737633;6480464;8554872 12477932 114987;14702039;15489334;16344560;17975119;19023099 114987 C9JWF1;F8WDK4;G5E996;Q8NA23 ABBA01042688;ABBA01042689;AK074891;AK093240;AK129868;AK313843;AL137066;AL449305;AL833635;AMYH02021509;BC012352;BC022982;BE870625;BX279630;CH471090;DA209351;DA305733;NM_001012361;NM_145241;XM_005251690 AAH12352;ABM84561;ABW03487;BAC04106;BAC11271;EAW87368;EAW87369;EAW87370;EAW87371;EAW87372;EAW87373;NP_001012361;NP_660284;Q8NA23;XP_005251747 Hs.133331 1662434;1678621;1730353;1787122;5015365;5015619;5015861;5015961;5016596;5022322;5022578;5022651;5037552;7185938 D10S16;D11S2560;D11S2921;D11S3114;D15S1477;D1S1423;D8S2279;D9S1700;D9S192E;GDB:631802;RH16588;RH92390;SHGC-155271 FLJ35921 OTTHUMP00000021958;OTTHUMP00000215534;WD repeat-containing protein 31 APPROVED protein-coding ENSG00000148225 HGNC:21421 18299 REVIEWED 1319455 WDR33 WD repeat domain 33 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q14.3 121772751 121879694 - 128461808 128568761 - 127704234 127811187 - 1580863;6480464;8554872 11162572;12477932;14702039;15761153;16009940;16055720;16169070;16344560;17081983;17353931;18029348;19322201;19596686;21139048;21549307;21890473;21906983;21963094;22094256;22446626;22505724;22939629;22990118;23602568;23752268;23870195;24023788;24332808;24457600;24550385;24654937;8125298;8889548;8889549 55339 B9A053;C9J8B4;Q9C0J8 AA142986;AB044749;ABBA01040195;ABBA01040196;ABBA01040197;ABBA01040198;ABBA01040199;AC006011;AI039494;AK002156;AK098003;AK123510;AK223319;AL043051;AL834365;AMYH02004739;AMYH02004740;AMYH02004741;BC005401;BC010283;BC013990;BC068484;BC108671;BM673679;BQ896760;BU597855;CH471103;DA768238;DB324904;NM_001006622;NM_001006623;NM_018383;XM_005263697 AAH05401;AAH13990;AAH68484;AAX82033;BAA92113;BAB32435;BAD97039;CAH10688;EAW95342;EAW95343;NP_001006623;NP_001006624;NP_060853;Q9C0J8;XP_005263754 Hs.554831 1643864;1649734;1650278;1654858;1654860;1701504;2124533;2180704;5127154 A006B44;G20687;RH104385;RH15869;RH68215;SGC31777;SHGC-17215;SHGC-30980;SHGC-37059 FLJ11294;NET14;WDC146 OTTHUMP00000203869;OTTHUMP00000203870;OTTHUMP00000203871;OTTHUMP00000205989;WD repeat-containing protein 33;WD repeat-containing protein WDC146;pre-mRNA 3' end processing protein WDR33 APPROVED protein-coding ENSG00000136709 HGNC:25651 11680 REVIEWED 1342520 WDR34 WD repeat domain 34 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014] 9 9 9 q34.11 102046739 102069942 - 131395940 131419129 - 128633661 128656850 - 737633;6480464;8699517;7240710;8554872 12477932 15164053;15489334;19521662;20360068;21139048;21900206;21906983;21953912;21963094;22505724;23568457;24144296;24183449;24183451 89891 A2A3F8;A2A3F9;Q96EX3 ABBA01043891;AK302098;AL356481;AL555205;AMYH02021718;AMYH02021719;BC001614;BC011874;BG177634;BI910783;CH471090;NG_034056;NM_052844 AAH01614;AAH11874;BAG63480;EAW87814;EAW87815;EAW87816;NP_443076;Q96EX3 Hs.495240 1679069;2118741;2170485;2183097 A006J25;RH12836;RH45959;SHGC-8025 DIC5;FAP133;MGC20486;RP11-216B9.5;SRTD11;bA216B9.3 OTTHUMP00000022282;WD repeat-containing protein 34 APPROVED protein-coding ENSG00000119333 HGNC:28296 15666 613363;615633 REVIEWED 1313630 WDR36 WD repeat domain 36 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008] 5 5 5 q22.1 106373809 106412142 + 110427870 110466200 + 111092172 111130502 + 1580863;6480464;6907045;7240710;8548466;8548464;8548460;8548465;8548463;8548461;8548462;8554872;8699517 15677485;16723468;16876519;17960130;19347049;20631153;22025897 12477932;14702039;15177553;15590835;15635413;16518310;16966629;17353431;17563723;18172102;18195223;19145250;19150991;19198610;19615732;19860791;20198978;20208534;20813748;20816195;21139048;21182205;21252943;21693764;21890473;21906983;21907836;21931130;21940795;21963094;22174317;22178446;22505724;22586326;22678362;22939629;23000965;23752268;23817569;23817571;24024966;24163370;24388013;24457600;24816145 134430 Q8NI36 ABBA01069071;AC008572;AF385437;AK055664;AK074202;AK095312;AL832494;AMYH02011964;BC037427;BC133025;BC136517;CH471086;CR749211;KF510258;KF510878;NG_008979;NM_139281 AAI33026;AAI36518;AAM43838;BAC04527;CAH18068;EAW49035;EAW49036;NP_644810;Q8NI36 Hs.533237 1673286;1698288;2121731;2142396;2147837 RH102681;RH35945;RH47364;RH47684;RH71412 DKFZp686I1650;GLC1G;TA-WDRP;TAWDRP;UTP21 OTTHUMP00000158997;OTTHUMP00000223490;OTTHUMP00000223962;OTTHUMP00000223963;T-cell activation WD repeat protein;T-cell activation WD repeat-containing protein;WD repeat-containing protein 36 APPROVED protein-coding ENSG00000134987 HGNC:30696 10305 609669;609887 REVIEWED 1314666 WDR37 WD repeat domain 37 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008] 10 10 10 p15.3 1052188 1127352 + 1095423 1178237 + 1056836 1132297 + 6480464 10231032;11076863;11230166;12477932;14702039;15164054;15489336;16189514;16381901;19724895;19851296;20198315;20379614;20383146;20677014;21139048;23400010 22884 C9JGR9;E7EQ49;Q9Y2I8 AB023199;ABBA01035259;ABBA01035260;AC022536;AK024605;AK125050;AK128194;AK292591;AK307259;AL136827;AL607085;AMYH02021985;AMYH02021986;BC018044;CH471072;NM_014023 AAH18044;BAA76826;BAF85280;CAB66761;CAL37555;EAW86513;EAW86514;EAW86515;EAW86516;EAW86517;NP_054742;Q9Y2I8 Hs.188495 1705180;1725557;1736122;1771540;2111099;2132508;2144109;2154587;2172041;5015404;5020740;5022200;5022651;5024413;5037552;5092894 A009B42;D10S1388E;D10S2279;D10S488E;D11S2921;D8S2279;G32396;L17705;L17809;L17877;L18426;RH119177;RH44795;SHGC-80039;STS-M78768;STS-T96998 FLJ40354;KIAA0982;RP11-529L18.2 OTTHUMP00000018956;OTTHUMP00000018957;WD repeat-containing protein 37 APPROVED protein-coding ENSG00000047056 HGNC:31406 15668 REVIEWED 1315150 WDR20 WD repeat domain 20 This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011] 14 14 14 q32.31 82660708 82744515 + 102606189 102690010 + 102139837 102224839 + 6480464 12477932;14702039;15342556;15489334;17081983;18029348;18925368;19615732;19850743;19913121;20147737;20628086;21183687;22990118;23444366;24250222;24816145;8125298 91833 B3KPG5;B3KR43;G3V5V2;H0YK31;H0YKE8;H0YNU0;Q5JPH5;Q8TBZ3 AB209148;ABBA01048489;ABBA01048490;ABBA01048491;AF327354;AK054748;AK056330;AK090580;AK090978;AK130824;AK225852;AK297727;AL133223;AL133558;AL359402;AL832242;AL832500;AMYH02029892;AMYH02029893;BC028387;BC030654;BP363522;BX248274;BX647751;CH471061;KF456012;NM_001242414;NM_001242415;NM_001242416;NM_001242417;NM_001242418;NM_144574;NM_181291;NM_181308;NR_038354;XM_006720306;XM_006720307;XM_006720308;XM_006720309;XM_006720310;XM_006720311;XM_006720312;XM_006720313;XM_006720314;XM_006720315;XM_006720316;XM_006720317;XM_006720318;XM_006720319;XM_006720320 AAH28387;AAH30654;AAL56014;ABM82456;ABM85645;ACE86604;ACE87285;BAD92385;BAG51677;BAG52190;BAG52255;BAG60080;CAB63713;CAD62602;CAI46118;EAW81769;EAW81770;EAW81771;NP_001229343;NP_001229344;NP_001229345;NP_001229346;NP_001229347;NP_653175;NP_851808;NP_851825;Q8TBZ3;XP_006720369;XP_006720370;XP_006720371;XP_006720372;XP_006720373;XP_006720374;XP_006720375;XP_006720376;XP_006720377;XP_006720378;XP_006720379;XP_006720380;XP_006720381;XP_006720382;XP_006720383 Hs.36859 1643616;1690344;1767723;1777757;1788938;1849290;2126634;2162881;2164871;2187208;5037552 A006R04;D8S2279;G09860;G35612;G35770;RH17817;RH44614;RH44863;RH94146;SHGC-34741;UniSTS:224875 DKFZp686B2131;DMR;FLJ27314;FLJ33659;MGC33177;MGC33183 OTTHUMP00000246770;OTTHUMP00000246771;OTTHUMP00000246773;OTTHUMP00000246774;OTTHUMP00000246776;WD repeat-containing protein 20 APPROVED protein-coding ENSG00000140153 HGNC:19667 11679 REVIEWED 1314938 WDR41 WD repeat domain 41 FOUND IN lysosomal membrane; INTERACTS WITH arsenous acid; cyclosporin A; diarsenic trioxide 5 5 5 q13.3 72622605 72682854 - 76727622 76788332 - 77426652 77492507 - 737633;6480464 12477932 14702039;15489334;16341674;17897319;19913121;20379614;20628086;21139048;21502949;21906983;21963094;21987572;22678362 55255 B4DHS8;B4DK73;B4E2L4;D6R9E7;D6R9M1;D6RA22;D6RB94;D6RBY6;D6RE66;D6RGW4;D6RH33;D6RIX6;D6RJA5;H0Y9Z3;H0YAA3;H0YAI6;Q9HAD4 ABBA01061981;AC010234;AF115511;AK001766;AK021855;AK023977;AK293316;AK295249;AK296423;AK300058;AK304329;AL834138;AMYH02011617;AMYH02011618;AMYH02011619;BC001807;BC040241;BM818066;CH471084;NM_018268;XM_005248551;XM_005248552;XM_006714656;XR_427715 AAH40241;AAO06948;ADZ16017;BAA91895;BAB13915;BAB14749;BAG56835;BAG58240;BAG59085;BAG61867;BAG65176;CAD38853;EAW95805;EAW95806;EAW95807;NP_060738;Q9HAD4;XP_005248608;XP_005248609;XP_006714719 Hs.482573 1644826;1664184;1684170;1760309;2127174;2167702;2172344;2176797;2180515;2186581 D5S2319;RH44320;RH44392;RH80473;SHGC-133093;SHGC-36223;SHGC-36700;SHGC-57669;SHGC-64313;WI-20907 FLJ10904;MSTP048 OTTHUMP00000128362;OTTHUMP00000222207;OTTHUMP00000222209;WD repeat-containing protein 41 protein-coding HGNC:25601 07714 VALIDATED 1344839 WDR43 WD repeat domain 43 ENCODES a protein that exhibits poly(A) RNA binding; PARTICIPATES IN ribosome biogenesis pathway; FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; cyclosporin A 2 2 2 p23.2 28962215 29015725 + 29117533 29171080 + 28894667 28948214 + 1580863;6480464;6907045 12429849;12477932;16344560;16565220;16964243;17081983;17699751;19471022;20360068;21139048;21693764;21890473;21906983;21963094;22178446;22586326;22939629;23000965;23383273;23891004;24250222;24457600;24654937;24754225;7584026;7584028;8889548 23160 C9IZK7;C9JEE7;C9JH61;H7C2H8;Q15061;Q8TB67 ABBA01045243;AC097720;AK000836;AMYH02003502;AW593733;BC024234;BC033206;CA311794;CH471053;D26488;D87716;DA654485;DA943836;NM_015131 AAH24234;AAI72316;BAA05499;BAA13441;EAX00522;NP_055946;Q15061 Hs.622982;Hs.709228 1658466;1757403;1768695;2122515;2126719;2146535;2177194 D2S2646;RH25248;RH47397;RH66494;RH68233;SHGC-144795;SHGC-56576 NET12;UTP5 OTTHUMP00000200981;UTP5, small subunit (SSU) processome component, homolog;WD repeat-containing protein 43 protein-coding ENSG00000163811 HGNC:28945 VALIDATED 1348946 WDR44 WD repeat domain 44 This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] X X X q24 117934854 118038746 + 117480036 117583924 + 118346073 118449961 + 737633;6480464;8554872 12477932 10077598;10464283;10747849;11076863;11230166;12665801;14702039;15302935;15489334;15489336;15772651;16381901;16964243;17081983;19240061;19322201;20936779;21139048;21706016;21890473;21906983;22113938;22863883;22939629;23000965;24035498;24250222;24816145;24885147 54521 H7BY83;Q5JSH3 ABBA01036795;ABBA01036796;ABBA01036797;ABBA01036798;ABBA01036799;ABBA01036800;ABBA01036801;ABBA01036802;ABBA01036803;ABBA01036804;ABBA01036805;ABBA01036806;ABBA01036807;ABBA01036808;ABBA01036809;ABBA01036810;ABBA01036811;ABBA01036812;ABBA01036813;AK001978;AK023292;AK092077;AK127556;AK299711;AK304432;AL391474;AL391803;AL391830;AL833605;AL834210;AMYH02040313;AMYH02040314;AMYH02040315;BC013924;BC028697;BX470418;BX537578;BX538087;BX648150;CH471161;FB343007;FB711130;KF459316;NG_021368;NM_001184965;NM_001184966;NM_019045 AAH28697;ACE86699;ACE87383;BAA92015;BAC03799;BAC87033;BAG61611;BAH14183;CAD38894;CAD97788;CAD98010;CAL38210;CAL38662;CAR81502;CAS91518;EAW89896;EAW89897;NP_001171894;NP_001171895;NP_061918;Q5JSH3 Hs.98510 1660847;1774091;2110039;5015404;5015619;5016700;5017170;5020946;5021872;5022578;5024413;5118718;7186695 D11S3114;D11S3590;D1S1423;L17705;L17877;L17971;L29953;RH68593;RH79802;STS-W80619;WDR44_9794;sY3084 DKFZp686L20145;FLJ13230;MGC26781;RAB11BP;RPH11 OTTHUMP00000023886;OTTHUMP00000023887;OTTHUMP00000023888;WD repeat-containing protein 44;rabphilin-11 APPROVED protein-coding ENSG00000131725 HGNC:30512 11682 REVIEWED 1348509 WDR45 WD repeat domain 45 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008] X X X p11.23 52706432 52732399 + 48932092 48958059 - 49074433 49101121 - 737633;6480464;8699517;7240710;8554872 12477932 14671302;14702039;15020712;15489334;15602573;18781797;18984161;20301334;20562859;21139048;21832049;21906983;21963094;23176820;23435086;23447832;23687123;24250222;8125298 11152 A6NM71;C9J0A8;C9J471;C9J5L0;C9J7Q8;C9JBX7;C9JE01;C9JUS5;C9JVT3;C9JYH8;G8JLI5;H0Y329;H7C4N7;H7C5B4;Q9Y484 ABBA01046110;ABBA01046111;ABBA01046112;ABBA01046113;ABBA01046114;ABBA01046115;ABBA01046116;ABBA01046117;ABBA01046118;AC231657;AF196779;AJ005897;AK023344;AK225122;AK301084;AK315717;AMYH02039318;AMYH02039319;AY408066;AY691428;BC000464;BC003037;BC009027;BC035979;BC069206;BQ068083;CH471224;CR456725;NG_033004;NM_001029896;NM_007075 AAH00464;AAH03037;AAH09027;AAH69206;AAV80764;ABM83171;ABM86372;BAG62688;CAA06754;CAG33006;EAW50695;EAW50696;EAW50697;EAW50698;EAW50699;EAW50700;EAW50701;EAW50702;EAW50703;EAW50704;NP_001025067;NP_009006;Q9Y484 Hs.632807 2116741;2190867;5022200 DXS8228;L18426;MARC_10039-10040:997207294:1 JM5;NBIA4;NBIA5;WDRX1;WIPI-4;WIPI4 OTTHUMP00000032409;OTTHUMP00000032410;OTTHUMP00000032411;OTTHUMP00000032412;OTTHUMP00000032414;OTTHUMP00000216324;OTTHUMP00000216326;OTTHUMP00000216333;OTTHUMP00000216336;WD repeat domain phosphoinositide-interacting protein 4;WD repeat domain, X-linked 1;WD repeat-containing protein 45;WD45 repeat protein interacting with phosphoinositides 4;neurodegeneration with brain iron accumulation 4;neurodegeneration with brain iron accumulation 5 APPROVED protein-coding ENSG00000196998 HGNC:28912 06597 300526;300894 REVIEWED 1625454 WDR38 WD repeat domain 38 INVOLVED IN hematopoietic progenitor cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH lead(0); lead(2+); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 9 9 9 q33.3 98263706 98268110 + 127615627 127620170 + 124853348 124857891 + 6480464;8554872 12477932 401551 B7ZW23;B7ZW24;B9EK65;Q5JTN6 AA867995;ABBA01043757;AL354928;AMYH02021636;BC127949;BC150645;BC171828;BC171830;BC171837;NM_001045476;NM_001276374;NM_001276375;NM_001276376;XM_005251987;XM_006717107 AAI27950;AAI50646;AAI71828;AAI71830;NP_001038941;NP_001263303;NP_001263304;NP_001263305;Q5JTN6;XP_005252044;XP_006717170 Hs.343383 OTTHUMP00000022116;WD repeat-containing protein 38 protein-coding ENSG00000136918 HGNC:23745 VALIDATED 1315220 WDR35 WD repeat domain 35 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010] 2 2 2 p24.1 19972385 20052221 - 20110024 20189884 - 19910263 19990123 - 737633;1580863;6480464;7240710;8554872;8699517 12477932 10718198;12168954;14702039;15489334;16147992;20193664;20817137;21473986;21890473;21906983;21963094;22486404;22751097;22939629;22987818;24027799;25011449 57539 B3KR94;F8WB94;H0Y6C0;H7BZK8;Q9P2L0 AB037757;ABBA01018485;ABBA01018486;ABBA01018487;AC013400;AC079145;AK022866;AK091205;AK122917;AK315094;AL832903;AMYH02003363;AMYH02003364;BC033951;BC036659;BX476609;CH471053;NG_021212;NM_001006657;NM_020779;XR_426989 AAH36659;AAX88936;BAA92574;BAG52306;BAG53797;CAH10636;EAX00838;EAX00839;EAX00840;EAX00841;NP_001006658;NP_065830;Q9P2L0 Hs.205427 1774276;1776481;2169952 D2S1845;RH78124;SHGC-61990 CED2;IFT121;IFTA1;KIAA1336;MGC33196;SRTD7 OTTHUMP00000115921;OTTHUMP00000115922;OTTHUMP00000200517;WD repeat-containing protein 35;intraflagellar transport protein 121 homolog;naofen APPROVED protein-coding ENSG00000118965 HGNC:29250 15667 613602;613610;614091 REVIEWED 1350558 WDR45B WD repeat domain 45B This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 77166614 77200663 - 80572438 80606411 - 82614562 82648535 - 737633;6480464 12477932 11181995;15020712;15146197;15489334;15602573;19322201;21139048;21832049;21890473;21906983;22939629;23000965;24816145 56270 I3L1D0;I3L3A5;I3L4L8;I3L4S6;Q5MNZ6 AA861045;ABBA01019690;ABBA01019691;ABBA01019692;AC124283;AF091083;AK297477;AM182326;AMYH02034162;AMYH02034163;AMYH02034164;AMYH02034165;AY691427;BC000974;BC007838;CH471099;CN262716;CR456770;NM_019613;XM_005256377;XM_005256378;XM_006722285;XR_243524 AAC72952;AAV80763;ABZ92353;BAG59898;CAG33051;CAJ57996;EAW89808;EAW89809;EAW89810;EAW89811;EAW89812;EAW89813;EAW89814;NP_062559;Q5MNZ6;XP_005256434;XP_005256435;XP_006722348 Hs.132161 1710576;1849121;1852502;2149976 Bda09c07;RH65862;RH79180;SHGC-82391 WDR45L;WIPI-3;WIPI3 OTTHUMP00000196431;WD repeat domain phosphoinositide-interacting protein 3;WD repeat protein 45-like;WD repeat-containing protein 45-like;WD repeat-containing protein 45B;WDR45-like;WIPI49-like protein APPROVED protein-coding ENSG00000141580 HGNC:25072 15669 609226 REVIEWED 1320425 WDR4 WD repeat domain 4 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] 21 21 21 q22.3 29412800 29449250 - 44263190 44299699 - 42843080 42879589 - 1580863;6480464 10950928;12403464;12477932;14702039;15489334;15861136;16189514;16344560;16780588;17081983;18029348;21044950;21139048;22863883;22939629;24250222;24639526 10785 P57081 AB039887;ABBA01004526;ABBA01004527;AJ243912;AJ243913;AK056343;AK292923;AK298015;AK315008;AMYH02037880;AMYH02037881;AP001628;AP001629;AX118939;BC001074;BC006341;BC018866;BG722541;BQ447230;BU541429;BU558089;CD368164;CH471079;DA029985;DC303088;NM_001260474;NM_001260475;NM_001260476;NM_001260477;NM_018669;NM_033661;NR_048535;XM_006723959 AAH01074;AAH06341;ABM83893;ABM87214;BAB13726;BAF85612;BAG37500;BAG51684;BAG60319;CAB93144;CAB93145;CAC38543;EAX09527;EAX09528;EAX09529;NP_001247403;NP_001247404;NP_001247405;NP_001247406;NP_061139;NP_387510;P57081;XP_006724022 Hs.248815;Hs.711744 1684120;1748999;1763971;1773271;1784462;1790647;1852506;2131243;2169098;2176269;2187196;5092890;5113451 A009B40;G32394;RH46358;RH98886;SHGC-105330;SHGC-147624;SHGC-156262;SHGC-52043;SHGC-56970;SHGC-58110;SHGC-58188;STS_CEB278;WI-13399 TRM82;TRMT82 OTTHUMP00000109401;OTTHUMP00000109402;TRM82 tRNA methyltransferase 82 homolog;WD repeat-containing protein 4;tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4;tRNA (guanine-N(7)-)-methyltransferase subunit WDR4 APPROVED protein-coding ENSG00000160193 HGNC:12756 09330 605924 REVIEWED 1353590 WDR46 WD repeat domain 46 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH atrazine; cisplatin; cyclosporin A 6 6 6 p21.3 34801238 34811662 - 33246682 33257304 - 33278905 33289527 - 1300397;6480464;8554872 9545376 11790298;12477932;14574404;15342556;15489334;15498874;15635413;16344560;16565220;19851445;21139048;22586326;22754713;22797925;23848194;24457600;9521053 9277 A8K806;B4DP15;H0Y6G3;O15213 ABBA01038139;ABBA01038140;AF447870;AI867295;AK292171;AK292616;AK297925;AK298151;AK308534;AK311388;AK315616;AL031228;AL662820;AL662827;AL844527;AMYH02013483;BC000388;BP344599;BX000343;BX439421;CH471081;CR759786;CR759817;DB272479;NM_001164267;NM_005452;XM_005249481;XM_005272908;XM_005275064;XM_005275320;XM_005275491;Z97184 AAH00388;AAQ04645;BAF84860;BAF85305;BAG37984;BAG60242;BAG60427;CAA20229;CAB09994;EAX03701;EAX03702;EAX03703;EAX03704;NP_001157739;NP_005443;O15213;XP_005249538;XP_005272965;XP_005275121;XP_005275377;XP_005275548 Hs.520063;Hs.671763 1694606;1759815;1767406;2123082;2184242 D6S1234E;G43302;HSC0YF092;RH12439;SHGC-170354 BING4;C6orf11;FP221;UTP7 OTTHUMP00000029279;OTTHUMP00000178637;WD repeat-containing protein 46;WD repeat-containing protein BING4;chromosome 6 open reading frame 11 protein-coding ENSG00000227057 HGNC:13923 12839 611440 VALIDATED 1343602 WDR47 WD repeat domain 47 INVOLVED IN multicellular organismal development (inferred); FOUND IN cytoplasm (inferred); microtubule (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-azacytidine; aflatoxin B1 1 1 1 p13.3 107782247 107854996 - 109512835 109584860 - 108970213 109042228 - 737633;6480464 12477932 10048485;15489334;16169070;16341674;16344560;22523538;8125298 22911 E9PKZ6;E9PN15;E9PNF6;E9PR96;O94967 AB020700;ABBA01068357;ABBA01068358;ABBA01068359;ABBA01068360;ABBA01068361;ABBA01068362;ABBA01068363;AK074616;AK225781;AK289789;AK294998;AL449266;AMYH02001702;BC034964;BC039254;BM793705;BX679664;CH471122;DA221069;NM_001142550;NM_001142551;NM_014969;XM_006710460;XM_006710461 AAH34964;AAH39254;ADZ15520;BAA74916;BAF82478;BAG58062;EAW56350;EAW56351;NP_001136022;NP_001136023;NP_055784;O94967;XP_006710523;XP_006710524 Hs.570055 1644519;1647127;1723233;1849115;1849117 A001X08;D1S3421;G19739;R58914;RH122300 FLJ90135;KIAA0893 OTTHUMP00000013443;OTTHUMP00000013444;OTTHUMP00000013445;OTTHUMP00000233693;WD repeat-containing protein 47;nemitin;neuronal enriched MAP interacting protein protein-coding ENSG00000085433 HGNC:29141 15670 615734 VALIDATED 1354020 WDR49 WD repeat domain 49 ENCODES a protein that exhibits calcium ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH titanium dioxide (ortholog) 3 3 3 q26.1 165595023 165769739 - 167196289 167371747 - 167478684 167653501 - 737633;6480464;8554872 12477932 14702039;15489334;20379614;22589738 151790 C9IZ29;C9JY37;E9PDB0;F8WAZ9;F8WBC8;H0Y8A5;H7C4Y4;Q8IV35 ABBA01058725;ABBA01058726;ABBA01058727;ABBA01058728;ABBA01058729;ABBA01058730;AC069530;AC079822;AC117425;AK090939;AK097556;AK294387;AMYH02008082;BC035512;CH471052;NM_178824 AAH35512;ADZ15441;BAC03552;BAC05100;BAG57644;EAW78583;EAW78584;NP_849146;Q8IV35 Hs.213762 1340780;1341149;1341755;1648487;2140337 D3S1253;D3S1264;D3S1763;D3S3035;D3S3122 FLJ33620 OTTHUMP00000212749;OTTHUMP00000212883;OTTHUMP00000212884;WD repeat-containing protein 49 protein-coding ENSG00000174776 HGNC:26587 08160 PROVISIONAL 1347717 WDR54 WD repeat domain 54 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene; cisplatin 2 2 2 p13.1 74480074 74484071 + 74648863 74652882 + 74421735 74425755 + 737633;6480464;8554872 12477932 14702039;15489334;15592455;17207965;21139048;8125298 84058 B9A049;C9J016;Q9H977 ABBA01075600;AC005041;AK023015;AK222696;AK311621;AMYH02004091;AX880035;BC032428;BC051753;BC051848;CH471053;NM_032118;XM_005264586;XM_006712111;XM_006712112 AAH51848;ADQ33058;BAB14358;BAD96416;CAE90773;EAW99677;EAW99678;EAW99679;EAW99680;EAW99681;NP_115494;Q9H977;XP_005264643;XP_006712174;XP_006712175 Hs.643480 1734922;2147387;2159850;5015961;5126371 A005N24;D15S1477;D2S1691E;RH16671;WI-14006 FLJ12953 OTTHUMP00000160409;OTTHUMP00000202528;WD repeat-containing protein 54 protein-coding ENSG00000005448 HGNC:25770 08577 PROVISIONAL 1348914 WDR45BP1 WD repeat domain 45B pseudogene 1 17 17 17 q11.2 27347782 27350287 - 30437209 30439714 - 32110190 32112695 - 446205;646086 ABBA01000702;AC090616;AC116407;AMYH02033311;NG_005857 1710576 SHGC-82391 WDR45LP1 APPROVED pseudo HGNC:26605 INFERRED 1347511 WDR48 WD repeat domain 48 INVOLVED IN protein deubiquitination; FOUND IN intracellular membrane-bounded organelle; nucleus; INTERACTS WITH formaldehyde; phenobarbital; testosterone enanthate 3 3 3 p21.33 39033745 39078385 + 39093477 39138155 + 39051986 39096664 + 1580863;6480464 10819331;12168954;12196293;12477932;12885920;15489334;18029348;18032488;18082604;19075014;19615732;20147293;20147737;21139048;21183687;21890473;21896657;21906983;21963094;22079093;22278251;22505724;22701671;22778262;22990118;23000965;23116119;24035498;24145035;24482476;24816145;24850727;25011449 57599 C9JC24;F8W6P2;F8W7Q3;F8W7Y5;F8W9K4;Q8TAF3 AB040882;ABBA01024812;ABBA01024813;ABBA01024814;AC123903;AC138124;AF468833;AK025513;AK074278;AK297349;AK298810;AK302307;AL162064;AL832926;AMYH02006579;BC012861;BC026353;BC037168;BX649170;CH471055;NM_020839;XM_005265346 AAH26353;AAH37168;AAL78650;BAA95973;BAG59798;BAG60944;BAG63646;CAB82402;CAH56182;CAH56300;EAW64548;EAW64549;EAW64550;EAW64551;NP_065890;Q8TAF3;XP_005265403 Hs.109778 1779602;2112696;2115792;2126634;2127321;2141008;2141959;2141961;2144641;2153718;2155422;2163225 A001Z36;D3S2895E;D3S4408;G09860;G19825;RH48643;SHGC-153576;SHGC-30045;SHGC-30755;SHGC-76837;SHGC-76850;SHGC-76851 DKFZp686G1794;KIAA1449;P80;SPG60;UAF1 OTTHUMP00000208993;USP1 associated factor 1;USP1-associated factor 1;WD repeat endosomal protein;WD repeat-containing protein 48 protein-coding ENSG00000114742 HGNC:30914 11146 612167 PROVISIONAL 1349800 WDR5 WD repeat domain 5 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 9 9 9 q34 107546368 107570384 + 137000801 137025094 + 134135679 134159972 + 6480464;9479074;9479053 22663077;23642229 11551928;12477932;12670868;14657013;14702039;14992727;15199122;15489334;15635413;15960974;15960975;16189514;16196087;16236267;16253997;16340128;16600877;16603732;16713569;16829959;16829960;16878130;16946699;17021013;17041588;17207965;17353931;17355966;17500065;17761849;17825402;17846119;17925232;17998332;18066051;18082152;18247557;18258596;18378692;18482256;18680430;18829457;18829459;18838386;18838538;18840606;19047629;19131338;19433449;19453261;19454010;19471022;19496786;19556245;19660582;19854137;20018852;20080758;20085832;20093773;20098747;20208542;20305087;20306291;20360068;20479123;20508642;20516061;20581860;20670891;20811636;20937768;20939513;20946988;21044950;21070969;21081666;21124902;21135039;21139048;21145461;21220120;21285357;21477851;21502505;21531708;21653943;21816345;21832049;21884981;21890473;21906983;21907836;22079093;22266653;22325352;22523547;22665483;22689669;22829784;22939629;22989411;22990118;23000965;23455922;23602568;23752268;24051437;24235145;24250222;24457600;24491801;24793694;24816145;24930734 11091 P61964;Q9H7J6;V9GYQ5;V9GZ59 AA490313;ABBA01021992;ABBA01021993;ABBA01021994;AJ011376;AK000552;AK024484;AK025810;AMYH02021846;AX405754;BC001635;BC015594;BC029769;BG773451;BX649632;CH471090;KF458945;NM_017588;NM_052821;XM_005272163 AAH01635;ADQ32719;BAA91248;BAB15774;CAB66159;CAD34861;EAW88117;EAW88118;EAW88119;EAW88120;NP_060058;NP_438172;P61964;XP_005272220 Hs.397638 1686342;1738315;1738323;2108997 D9S1345;D9S1349;RH98879;WDR5_9217 BIG-3;CFAP89;SWD3 BMP2-induced 3-kb gene protein;OTTHUMP00000162494;SWD3, Set1c WD40 repeat protein, homolog;WD repeat-containing protein 5;WD-repeat protein 5;cilia and flagella associated protein 89 APPROVED protein-coding ENSG00000196363 HGNC:12757 10614 609012 REVIEWED 1603214 WDR55 WD repeat domain 55 INVOLVED IN rRNA processing (ortholog); FOUND IN nucleolus (ortholog); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 5 5 5 q31.3 136121131 136127300 + 140044384 140051930 + 140664799 140672345 + 6480464 12477932;14702039;15489334;16344560;17975119;19023099;19322201;21890473;22113938;23602568 54853 D6RGJ8;G3V1J0;Q9H6Y2 AA974187;ABBA01026423;AC116353;AK000202;AK025355;AK056861;AK122862;AK293417;AMYH02012340;BC002482;BC041687;BC068485;BQ069026;CH471062;DB210296;NM_017706;XM_005268469;XM_005268471;XM_006714788 AAH68485;BAA91006;BAB15118;BAG56924;EAW62024;EAW62025;EAW62026;NP_060176;Q9H6Y2;XP_005268526;XP_005268528;XP_006714851 Hs.286261 5015619;5015879;5016478;5024413;5037552 D11S3114;D8S2279;GDB:314949;GDB:434012;L17877 FLJ20195;FLJ21702 OTTHUMP00000159891;WD repeat-containing protein 55 protein-coding HGNC:25971 08614 VALIDATED 1344468 WDR53 WD repeat domain 53 This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008] 3 3 3 q29 194863098 194877452 - 196281024 196295627 - 196554153 196568756 - 737633;6480464;8554872 12477932 15489334;17041588;17207965 348793 C9JBE7;C9JDR5;C9JJZ8;C9JQN1;Q7Z5U6 ABBA01033744;AC092933;AI803796;AK314105;AMYH02008490;BC054030;CH471191;EF011620;KF457729;NM_182627;XM_005269319;XM_005269320 AAH54030;ABK41110;ADQ32581;BAG36798;EAW53645;EAW53646;EAW53647;NP_872433;Q7Z5U6;XP_005269376;XP_005269377 Hs.385865 1680262;1771538 RH99296;SHGC-56745 MGC12928;MGC64882 OTTHUMP00000208259;OTTHUMP00000208263;WD domain, G-beta repeat-containing protein;WD repeat-containing protein 53 APPROVED protein-coding ENSG00000185798 HGNC:28786 14700 615110 PROVISIONAL 1318414 WDR5B WD repeat domain 5B This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. [provided by RefSeq, Jul 2008] 3 3 3 q21.1 120540328 120544510 - 122130700 122134882 - 122411853 122416035 - 1580863;6480464 10369878;12477932;14702039;15489334;17041588;20705733;22645275;24250222;7566098;8889548 54554 Q86VZ2 AA310178;AA587370;ABBA01016470;AC083798;AK002149;AK315186;AMYH02007537;BC025762;BC043494;BU678251;CH471052;CR457279;NM_019069 AAH43494;BAA92110;BAG37626;CAG33560;EAW79485;NP_061942;Q86VZ2 Hs.567513;Hs.594258 1674681;1685237;2122457;2166469;5092686 A005Q08;G32264;RH91836;SHGC-77265;WIAF-2146 FLJ11287;MGC49879 OTTHUMP00000215571;WD repeat-containing protein 5B APPROVED protein-coding ENSG00000196981 HGNC:17826 18302 REVIEWED 1605950 WDR59 WD repeat domain 59 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; formaldehyde 16 16 16 q23.1 59200469 59311988 - 74907468 75019026 - 74873570 74985128 - 6480464;8554872 11572484;12477932;14702039;15489334;15498874;17041588;19615732;19844255;20379614;21139048;21906983;21988832;22505724;23251661 79726 H3BMH3;H3BNY4;H3BR95;H3BUE9;H3BV71;Q6PJI9 AB067510;ABBA01058113;ABBA01058114;ABBA01058115;ABBA01058116;ABBA01058117;ABBA01058118;ABBA01058119;ABBA01058120;AC009132;AC092383;AF370390;AK022332;AK091316;AK302557;AL832078;AMYH02032387;AMYH02032388;AMYH02032389;AMYH02032390;BC004519;BC014887;CA777098;CH471114;NM_030581;XM_005256146;XM_005256147 AAH04519;AAH14887;AAQ15226;BAB14015;BAB67816;BAG52335;BAH13742;EAW95672;EAW95673;EAW95674;EAW95675;EAW95676;NP_085058;Q6PJI9;XP_005256203;XP_005256204 Hs.280951 1650140;1680501;1698210;1715861;1726935;1846623;2152665;5015861 D10S16;G62712;RH102641;RH119625;RH70757;RH91801;SHGC-1232;SHGC-33475 FLJ12270;FP977;MGC11230 OTTHUMP00000244516;WD repeat-containing protein 59 protein-coding HGNC:25706 13351 VALIDATED 1315489 WDR62 WD repeat domain 62 This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011] 19 19 19 q13.12 33259959 33310190 + 36545783 36596012 + 36054881 36105110 + 6480464;7240710;8554872;8699517 10573015;12477932;14702039;15057824;15302935;15489334;16169070;16189514;16565220;17081983;19910486;20301772;20360068;20562859;20729831;20890278;20890279;20980985;21139048;21496009;21749326;21834044;21961505;22308068;23065275;23341463;23602568;23920402;24228726;24250222;24255178;24388750;8889548 284403 H7C3R4;O43379 ABBA01018777;ABBA01018778;ABBA01018779;AC004144;AD000813;AK090617;AL041673;AL117438;AL133651;AMYH02035999;AMYH02036000;AW029580;BC017261;BC058939;BC151839;BQ880028;BQ960310;BU508347;BX647726;CF142643;NG_028101;NM_001083961;NM_173636;XM_005258809 AAC27979;AAH17261;ADZ15467;BAC03488;CAB55924;CAH56191;CAH56390;NP_001077430;NP_775907;O43379;XP_005258866 Hs.116244 1337579;1340469;2168811;5015861;5016352;5022200;5022578;5037552;7185938 D10S16;D19S416;D19S420;D1S1423;D8S2279;L18426;L30021;SHGC-23212 C19orf14;DKFZp434J046;DKFZp686G1024;FLJ33298;MCPH2;MGC166976 WD repeat-containing protein 62;microcephaly, primary autosomal recessive 2 APPROVED protein-coding ENSG00000075702 HGNC:24502 10721 604317;613583 REVIEWED 1601957 WDR61 WD repeat domain 61 WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008] 15 15 15 q25.1 55512089 55528455 - 78575575 78591977 - 78283233 78299598 - 6480464;8554872 12477932;14702039;15161933;15489334;15761153;16024656;16169070;17041588;17148452;17203973;17207965;18029348;20178742;20305087;20360068;20541477;21070969;21139048;21145461;21726809;21906983;21963094;22190034;22451921;22863883;22939629;22990118;23524849;23891004;24337577;25027693 80349 H0YL19;H0YLA1;H0YM76;H0YMF9;H0YN81;H3BQA8;Q9GZS3 ABBA01060582;AC090607;AF100786;AF127799;AF309553;AK024754;AK300838;AK304617;AK311320;AMYH02030861;BC010080;CH471136;CR457333;NM_025234;XM_005254698 AAG31639;AAH10080;AAP97225;AAP97249;ADQ31674;BAB14986;BAG62489;BAG65399;CAG33614;EAW99173;EAW99174;EAW99175;NP_079510;Q9GZS3;XP_005254755 Hs.513055 1680180;2113158;2183475 D15S1485;RH26799;RH44802 REC14;SKI8 OTTHUMP00000184910;SKI8 homolog;WD repeat-containing protein 61;meiotic recombination REC14 protein homolog;recombination protein REC14 APPROVED protein-coding ENSG00000140395 HGNC:30300 15236 609540 PROVISIONAL 1605003 WDR63 WD repeat domain 63 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; formaldehyde 1 1 1 p22.3 83771898 83842741 + 85527993 85598821 + 85062298 85133138 + 6480464;8554872 12477932;14702039;15489334;16344560;16710414;20379614;21953912;23509962;24515614 126820 E9PLK2;E9PLW4;H0YEC9;Q8IWG1 ABBA01045643;ABBA01045644;ABBA01045645;AK054629;AK292603;AL358789;AMYH02001381;AMYH02001382;AY049724;BC040265;BX648851;CH471097;DB075669;DB085334;NM_001288563;NM_145172;XM_005270438;XM_006710340 AAH40265;AAL06239;BAB70778;BAF85292;EAW73212;EAW73213;EAW73214;NP_001275492;NP_660155;Q8IWG1;XP_005270495;XP_006710403 Hs.97933 1643685;1677796 AL009692;RH98390 DIC3;FLJ30067;NYD-SP29;RP11-507C22.2 OTTHUMP00000011612;OTTHUMP00000011613;OTTHUMP00000036081;WD repeat-containing protein 63;testis development protein NYD-SP29 (NYD-SP29) protein-coding ENSG00000162643 HGNC:30711 11409 VALIDATED 1606715 WDR66 WD repeat domain 66 This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011] 12 12 12 q24.31 121994080 122079717 + 122356463 122441839 + 121918557 122003927 + 6480464;8554872 10322433;11814058;12477932;14702039;17967944;18925368;19110211;19773279;19820697;21572414;22139419;22552337;23000965;23514407;24026423;8090199;8889548 144406 Q8TBY9 AA853421;AA858079;ABBA01020193;ABBA01020194;ABBA01020195;ABBA01020196;ABBA01020197;AC069503;AK097102;AL833930;AMYH02027405;AMYH02027406;AMYH02027407;BC028421;BC036233;BE870554;BG717296;CA503090;CA944646;CH471054;CN480050;DB462471;NG_021364;NM_001178003;NM_144668 AAH28421;AAH36233;CAD38786;EAW98298;EAW98299;NP_001171474;NP_653269;Q8TBY9 Hs.709837 1758525;1798030;5093400;5124142 G32696;PSMD9_1060.2;RH92394;SHGC-148598 CaM-IP4;FLJ39783;MGC33630 OTTHUMP00000239802;OTTHUMP00000239803;WD repeat-containing protein 66 APPROVED protein-coding ENSG00000158023 HGNC:28506 14570 REVIEWED 1605299 WDR64 WD repeat domain 64 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cobalt atom; cobalt dichloride; pirinixic acid (ortholog) 1 1 1 q43 215070686 215220995 + 241815580 241965435 + 241652278 241802133 + 6480464;8554872 14702039;19626040;20379614;20923822;23942779 128025 B1ANS9;H0Y6L4 ABBA01033253;ABBA01033254;ABBA01033255;ABBA01033256;ABBA01033257;ABBA01033258;ABBA01033259;AK057540;AK122927;AL365366;AMYH02003038;AMYH02003039;AMYH02003040;AY327404;BE673668;BX248405;BX322532;CH471098;NM_144625;XM_006711736 AAI48603;AAI56933;AAP92796;B1ANS9;BAB71525;EAW70101;EAW70102;NP_653226;XP_006711799 Hs.97527 1335550;1660475;1682241;1767206;1850987;2115134;2187562 AL009541;AL009818;D1S321;RH93246;SHGC-642;SHGC-76596;SHGC-76606 FLJ32978 OTTHUMP00000037771;WD repeat-containing protein 64 protein-coding ENSG00000162843 HGNC:26570 13412 VALIDATED 1605671 WDR60 WD repeat domain 60 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014] 7 7 7 q36.3 153081253 153173045 + 158649269 158738883 + 158856578 158946192 + 6480464;8699517;7240710;8554872 12477932;12690205;14702039;15489334;16344560;18391950;20360068;21900206;23910462;24250222;8889548 55112 H7BYQ2;H7C022;H7C1E8;Q8WVS4 ABBA01032302;ABBA01032303;ABBA01032304;ABBA01032305;AC004863;AC124833;AK001162;AK027228;AL137660;AMYH02017185;AMYH02017186;AMYH02017187;AMYH02017188;BC014491;BM718580;BU628311;CH236954;CH471149;CR627036;DB072968;NG_034051;NM_018051;XM_005249549;XM_005249550;XM_006716041;XR_242045;XR_428179 AAH14491;BAA91528;CAH10360;EAL23932;EAX04592;NP_060521;Q8WVS4;XP_005249606;XP_005249607;XP_006716104 Hs.389945 1689149;1768262;2133432 GDB:1317300;RH65189;RH65943 FAP163;FLJ10300;FLJ23575;SRPS6;SRTD8 OTTHUMP00000200011;WD repeat-containing protein 60 protein-coding ENSG00000126870 HGNC:21862 08545 615462;615503 REVIEWED 1316962 WDR6 WD repeat domain 6 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. [provided by RefSeq, Aug 2008] 3 3 3 p21.31 2406 6725 - 49044637 49053386 + 49007204 49015953 + 6480464;8554872 10903905;11814058;12477932;14702039;15489334;16189514;16751776;17216128;17720279;18029348;18247557;18850735;19910486;21139048;21145461;21706016;21890473;21906983;21963094;22118674;22505724;22586326;22939629;22990118;23000965;23022380;23443559;23455922;23602568;25036637;8125298 11180 B3KRR8;C9JFP6;C9K020;E5RFX3;E9PBK6;E9PDU5;F8WE36;Q9H9M3;Q9NNW5;V9GYU1;V9GZ48;V9GZ65 ABBA01024618;ABBA01024619;ABBA01024620;AC137630;AF099100;AI636120;AK001080;AK022719;AK092079;AK225653;AK295145;AK296387;AK297090;AK304117;AK309913;AL133589;AL833910;AMYH02006735;BC002826;BC078176;BC101707;BC113467;BC143486;BC143488;DC389885;DC400613;NG_029915;NM_018031;XM_005264837 AAF80244;AAH02826;AAH78176;AAI01708;AAI13468;BAA91497;BAB14201;BAG52480;BAG58164;BAG59057;BAG59605;BAG65018;CAB63730;CAD38766;NP_060501;Q9NNW5;XP_005264894 Hs.654815 1679730;2107495;2110041;2176084 PH-4__6983;RH80256;SHGC-76942;WDR6_9235 FLJ10218;FLJ52552;FLJ56107;MGC126756;MGC142027 OTTHUMP00000164827;OTTHUMP00000208907;OTTHUMP00000208909;WD repeat-containing protein 6 APPROVED protein-coding ENSG00000178252 HGNC:12758 06912 606031 REVIEWED 1605675 WDR70 WD repeat domain 70 ENCODES a protein that exhibits enzyme binding; INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 5 5 5 p13.2 37266337 37639153 + 37379391 37752774 + 37379265 37752672 + 6480464 12477932;14702039;19615732;21906983;21963094;22412018;22939629;23000965;23382074 55100 D6RIW8;Q9NW82 ABBA01024184;ABBA01024185;ABBA01024186;ABBA01024187;ABBA01024188;ABBA01024189;ABBA01024190;ABBA01024191;ABBA01024192;ABBA01024193;AC025469;AC093269;AC117532;AK001095;AK291179;AK310901;AL512685;AMYH02011176;AMYH02011177;AMYH02011178;AMYH02011179;AMYH02011180;AMYH02011181;AMYH02011182;AMYH02011183;BC009648;BC025315;BX537655;CH471119;KC876962;NM_018034;XM_005248318;XM_006714478 AAH09648;AAH25315;BAA91502;BAF83868;CAC21644;EAW55960;EAW55961;NP_060504;Q9NW82;XP_005248375;XP_006714541 Hs.213690 1338135;1685469;1706028;1735448;1770950;1785562;1785654;1855648;2111069;2144012;2183688 1858;D5S1578E;D5S1998;D5S566E;G19189;RH48890;SHGC-154968;SHGC-172433;SHGC-78651;STS-N74440;WI-11355 FLJ10233 OTTHUMP00000221780;WD repeat-containing protein 70 protein-coding ENSG00000082068 HGNC:25495 08542 PROVISIONAL 1602852 WDR73 WD repeat domain 73 INTERACTS WITH atrazine; cobalt dichloride; copper(2+) sulfate 15 15 15 q25.2 61611526 61623048 - 85185607 85197521 - 84642376 84654290 - 6480464 12477932;14702039;21139048;21890473;21900206;22939629;24024966;24816145;25015289;8125298 84942 H0YLH0;H0YMT3;H0YMX2;Q6P4I2 ABBA01052944;AC048382;AC244519;AF161382;AK027200;AK027794;AK055578;AK055729;AK090406;AK225068;AK225199;AK295372;AMYH02030952;BC014115;BC020252;BC050648;BC063392;CH471101;NM_032856;XM_005254983;XM_006720724;XR_243214;XR_243215 AAF28942;AAH14115;AAH50648;AAH63392;BAB55373;BAC03387;BAG51562;BAG58332;EAX01945;EAX01946;EAX01947;EAX01948;EAX01949;NP_116245;Q6P4I2;XP_005255040;XP_006720787 Hs.745027 2158765;5015619;5016478;5037552 D11S3114;D2S2557;D8S2279;GDB:434012 FLJ14888;HSPC264 FLJ00296 protein;WD repeat-containing protein 73 protein-coding HGNC:25928 08608 VALIDATED 1603395 WDR74 WD repeat domain 74 INVOLVED IN blastocyst formation (inferred); RNA metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH all-trans-retinoic acid; biochanin A; copper(2+) sulfate 11 11 11 q12.3 59929980 59931022 - 62600380 62608044 - 62832908 62840572 - 6480464;8554872 11790298;12429849;12477932;14702039;14742713;15489334;16169070;17207965;18029348;20972266;21890473;21900206;21906983;21963094;21987572;22505724;22797925;22939629;23752268;24816145 54663 E9PS41;F5GYL6;F5H0Q8;H0YFP2;Q6RFH5 ABBA01003246;AK001301;AK025383;AK292330;AK303186;AMYH02024900;AP001160;AY500828;BC006351;CH471076;CS300592;NM_018093;XM_005274055 AAH06351;AAS48499;ADQ32363;BAA91610;BAB15122;BAF85019;BAG64280;CAK32256;EAW74111;EAW74112;NP_060563;Q6RFH5;XP_005274112 Hs.654620 1649902;1697102;1700744;1792376;2116031;2137583;5106391 PMC150226P1;RH102034;RH103997;RH16519;SGC33051;SHGC-2475;WI-15662 FLJ10439;FLJ21730 NOP seven-associated protein 1;OTTHUMP00000236505;OTTHUMP00000236506;OTTHUMP00000236507;OTTHUMP00000236508;WD repeat-containing protein 74 protein-coding ENSG00000133316 HGNC:25529 08548 VALIDATED 1604581 WDR75 WD repeat domain 75 ENCODES a protein that exhibits poly(A) RNA binding; PARTICIPATES IN ribosome biogenesis pathway; FOUND IN nucleus; INTERACTS WITH aflatoxin B1; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 2 2 2 q32.2 183901218 183935325 + 190306159 190340287 + 189441433 189475538 + 6480464;6907045 12429849;12477932;14702039;15489334;15815621;16565220;17081983;17699751;18029348;19615732;21139048;21890473;21906983;22586326;23000965;23891004 84128 F8WC81;F8WE20;Q8IWA0 ABBA01062379;AC013439;AK022581;AK022607;AK023276;AK091546;AK290445;AL122097;AMYH02005426;BC006816;BC018689;BC040567;CH471058;CR749440;NM_032168 AAH06816;AAH18689;AAH40567;AAX93081;BAB14111;BAB14126;BAB14503;BAF83134;CAB59265;CAH18278;EAX10903;EAX10904;EAX10905;NP_115544;Q8IWA0 Hs.399984 1655315;1655317 A005T33;G20486 DKFZp781N1244;FLJ12519;NET16;UTP17 OTTHUMP00000163494;UTP17, small subunit (SSU) processome component, homolog;WD repeat-containing protein 75 protein-coding ENSG00000115368 HGNC:25725 07775 PROVISIONAL 1602418 WDR72 WD repeat domain 72 This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 15 15 15 q21.3 30700883 30946788 - 53805938 54055075 - 53513741 53762878 - 6480464;7240710;8554872;8699517 12477932;14702039;15489334;16344560;19853237;19875614;20139978;20379614;20383146;20834067;20938048;21196691;21294870;21597265;22126837;22243262;22797727;23293580;25008349;8889548 256764 H0YKE0;H0YLX4;H0YN02;Q3MJ13 ABBA01039043;ABBA01039044;ABBA01039045;AC024061;AC066611;AC066614;AK096055;AK123805;AK125130;AK310211;AK311300;AMYH02030460;AMYH02030461;AMYH02030462;BC058026;BC101614;BC101616;BX537884;BX648571;BX648751;CH471082;CK299278;DA736178;DA748816;NG_017034;NM_001277176;NM_182758;NR_102334;NR_102335;NR_102336 AAI01615;AAI01617;ACE86676;ACE87361;BAC04689;CAD97880;EAW77462;NP_001264105;NP_877435;Q3MJ13 Hs.122125 1341377;1690642;1698242;1698716;1706654;1717847;1731319;1747919;1753569;1756983;1763537 D15S1003;D15S170;G66901;RH102657;RH102918;RH122755;RH92120;SHGC-107461;SHGC-141520;SHGC-147238;SHGC-82811 AI2A3;FLJ38736;MGC126663;MGC126665 OTTHUMP00000162771;WD repeat-containing protein 72 APPROVED protein-coding ENSG00000166415 HGNC:26790 10987 613211;613214 REVIEWED 736419 WDR7 WD repeat domain 7 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 18 18 18 q21.31 51035752 51414043 + 54318590 54697036 + 56651385 57029805 + 6480464;8554872 10828621;12477932;12786944;14702039;15489334;19010793;19240061;20379614;22064162;9628581 23335 K7EMB8;K7EMF3;K7EPQ4;K7EPY9;Q9Y4E6 AB011113;ABBA01056125;ABBA01056126;ABBA01056127;AC007052;AC008006;AC012301;AF188125;AK057141;AMYH02034781;AMYH02034782;AMYH02034783;AY099325;BC050352;BC131558;BC150282;CH471096;NM_015285;NM_052834;XM_005266674;XM_006722431 AAH50352;AAI31559;AAI50283;AAL03983;AAM33134;BAA25467;EAW63037;EAW63038;EAW63039;EAW63040;NP_056100;NP_443066;Q9Y4E6;XP_005266731;XP_006722494 Hs.465213 1683487;1693816;1718499;1728017;1731787;1760175;1767759;1768042;2119315;2130827;2147434;2147436;2158772;7184798 A006I33;D18S1324;D18S18;G18043;G20853;G63279;RH122452;RH46177;RH78349;SHGC-132450;SHGC-32006;SHGC-56429;STS-D59348 KIAA0541;TRAG OTTHUMP00000163595;OTTHUMP00000163596;TGF-beta resistance associated;TGF-beta resistance-associated protein TRAG;WD repeat-containing protein 7;rabconnectin-3 beta APPROVED protein-coding ENSG00000091157 HGNC:13490 10306 613473 REVIEWED 1605336 WDR76 WD repeat domain 76 INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4',5-pentachlorobiphenyl 15 15 15 q15.3 21008572 21050076 + 44119112 44160617 + 43826914 43868419 + 6480464 12477932;12499253;12860291;14702039;15146197;15489334;16344560;17041588;19913121;20628086;21906983;22505724;23022100;24816145;25011449 79968 C9JE56;Q9H967 AA743653;AA810149;ABBA01039220;ABBA01039221;ABBA01039222;AC018512;AC023356;AK023035;AK290933;AMYH02030324;AMYH02030325;AMYH02030326;AMYH02030327;BC025247;BC051855;BQ183396;BX374706;CH471082;CN259143;DA439086;EF011624;NM_001167941;NM_024908;XM_005254680;XM_005254681 AAH25247;AAH51855;ABK41114;BAB14369;BAF83622;EAW77248;NP_001161413;NP_079184;Q9H967;XP_005254737;XP_005254738 Hs.250154 1716131;1804518;1813134;1813760;1814734;1815362;1815444;1815926;1825094;1825314;1829862;1832002;1832608;1832734;1832784;1834426;1834802;1835286;1836314;1836842;1836950;1837544;1838444;1839278;1843618;1843858;1844740;1845472;1846114;1933964;1933966;1933968;1933970;1933972;1933974;1933976;1933978;1933980;1933982;1933984;1933986;1933988;1933990;1933992;1933994;1933996;1933998;1934000;1934002;1934004;1934006;1934008;1934010;1934012;1934014;1934016;1934018;1934020;1934022;1934024;1934026;1934028;1934030;1934032;1934034;1934036;1934038;1934040;1934042;1934044;1934046;1934048;1934050;1934052;1934054;1934056;1934058;1934060;1934062;1934064;1934066;1934068;1934070;1934072;1934074;1934076;1934078;1934080;1934082;1934084;1934086;1934088;1934090;1934092;1934094;1934096;1934098;1934100;1934102;1934104;1934106;1934108;1934110;1934112;1934114;1934116;1934118;1934120;1934122;1934124;1934126;1934128;1934130;1934132;1934134;1934136;1934138;1934140;1934142;1934144;1934146;1934148;1934150;1934152;1934154;1934156;1934158;1934160;1934162;1934164;1934166;1934168;1934170;1934172;1934174;1934176;1934178;1934180;1934182;1934184;1934186;1934188;1934190;1934192;1934194;1934196;1934198;1934200;1934202;1934204;1934206;1934208;1934210;1934212;1934214;1934216;1934218;1934220;1934222;1934224;1934226;1934228;1934230;1934232;1934234;1934236;1934238;1934240;1934242;1934244;1934246;1934248;1934250;1934252;1934254;1934256;1934258;1934260;1934262;1934264;1934266;1934268;1934270;1934272;1934274;1934276;1934278;1934280;1934282;1934284;1934286;1934288;2209126;2209128;2209130;2209132;2209134;2209136;2209138;2209140;2209142;2209144;2209146;2209148;2209150;2209152;2209154;2209156;2209158;2209160;2209162;2209164;2209166;2209168;5037552 D8S2279;ECD03188;ECD07586;ECD07903;ECD08398;ECD08717;ECD08758;ECD09003;ECD13648;ECD13763;ECD16064;ECD17139;ECD17444;ECD17508;ECD17533;ECD18361;ECD18549;ECD18798;ECD19319;ECD19585;ECD19639;ECD19939;ECD20396;ECD20819;ECD23019;ECD23140;ECD23585;ECD23954;ECD24277;REN37815;REN37816;REN37817;REN37818;REN37819;REN37820;REN37821;REN37822;REN37823;REN37824;REN37825;REN37826;REN37827;REN37828;REN37829;REN37830;REN37831;REN37832;REN37833;REN37834;REN37835;REN37836;REN37837;REN37838;REN37839;REN37840;REN37841;REN37842;REN37843;REN37844;REN37845;REN37846;REN37847;REN37848;REN37849;REN37850;REN37851;REN37852;REN37853;REN37854;REN37855;REN37856;REN37857;REN37858;REN37859;REN37860;REN37861;REN37862;REN37863;REN37864;REN37865;REN37866;REN37867;REN37868;REN37869;REN37870;REN37871;REN37872;REN37873;REN37874;REN37875;REN37876;REN37877;REN37878;REN37879;REN37880;REN37881;REN37882;REN37883;REN37884;REN37885;REN37886;REN37887;REN37888;REN37889;REN37890;REN37891;REN37892;REN37893;REN37894;REN37895;REN37896;REN37897;REN37898;REN37899;REN37900;REN37901;REN37902;REN37903;REN37904;REN37905;REN37906;REN37907;REN37908;REN37909;REN37910;REN37911;REN37912;REN37913;REN37914;REN37915;REN37916;REN37917;REN37918;REN37919;REN37920;REN37921;REN37922;REN37923;REN37924;REN37925;REN37926;REN37927;REN37928;REN37929;REN37930;REN37931;REN37932;REN37933;REN37934;REN37935;REN37936;REN37937;REN37938;REN37939;REN37940;REN37941;REN37942;REN37943;REN37944;REN37945;REN37946;REN37947;REN37948;REN37949;REN37950;REN37951;REN37952;REN37953;REN37954;REN37955;REN37956;REN37957;REN37958;REN37959;REN37960;REN37961;REN37962;REN37963;REN37964;REN37965;REN37966;REN37967;REN37968;REN37969;REN37970;REN37971;REN37972;REN37973;REN37974;REN37975;REN37976;REN37977;RH121030;stSG627978;stSG627979;stSG627980;stSG627981;stSG627983;stSG627984;stSG627985;stSG627986;stSG627987;stSG627989;stSG627990;stSG627991;stSG627992;stSG627994;stSG627995;stSG627996;stSG627997;stSG627998;stSG627999;stSG628000;stSG628001;stSG628002 CDW14;FLJ12973 OTTHUMP00000066509;OTTHUMP00000196079;WD repeat-containing protein 76 protein-coding ENSG00000092470 HGNC:25773 07804 VALIDATED 1605635 WDR78 WD repeat domain 78 INVOLVED IN hematopoietic progenitor cell differentiation (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; copper atom; copper(0) 1 1 1 p31.3 65568539 65680519 - 67278568 67390907 - 66812885 66925224 - 6480464;8554872 12477932;14702039;15489334;16344560;16710414;21953912;24250222;8889548 79819 A0AVI9;E9PQT5;H0YCX1;H0YD49;H0YD58;H0YDI6;H0YEH4;H0YES1;Q5TAD8;Q5VTH9 ABBA01074525;ABBA01074526;ABBA01074527;AK026782;AK091603;AK127011;AK292830;AL133617;AL139216;AL354978;AL516734;AL592161;AMYH02001195;AMYH02001196;AMYH02001197;BC032406;BC126379;BC126381;BM968567;BX648840;CH471059;DA916550;KF495969;NM_024763;NM_207014;XM_005271212;XM_005271213 AAH32406;AAI26380;AAI26382;ADR83283;BAB15551;BAF85519;CAB63744;EAX06513;EAX06514;EAX06515;NP_079039;NP_996897;Q5VTH9;XP_005271269;XP_005271270 Hs.49421 1851026;2126432;5017587;5024039;5037552 D16S325;D8S2279;MIER1;SHGC-56558;SHGC-74959 DIC4;FLJ23129;RP11-342H21.1 OTTHUMP00000010745;OTTHUMP00000010746;OTTHUMP00000232387;WD repeat-containing protein 78 protein-coding ENSG00000152763 HGNC:26252 08017 VALIDATED 1604293 WDR77 WD repeat domain 77 WDR77 is a component of the 20S PRMT5 (MIM 604045)-containing methyltransferase complex, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins (see MIM 601061). This modification targets Sm proteins to the survival of motor neurons (SMN) complex (see MIM 600354) for assembly into small nuclear ribonucleoprotein core particles (Friesen et al., 2002 [PubMed 11756452]).[supplied by OMIM, Mar 2008] 1 1 1 p13.2 110229435 110238753 - 111982512 111991915 - 111439890 111449208 - 6480464 11756452;12477932;12560496;12972618;14702039;15130578;15221005;15324660;15489334;15670829;16087681;16196087;16253997;16300736;16710414;16712789;16980624;17032745;17081983;17158748;17207965;17314511;17437848;17620599;17643375;17707232;18029348;18356297;18404153;18457437;18562274;18984161;19167051;19188445;19840198;20360068;20951943;21139048;21145461;21183687;21316606;21385873;21706016;21789256;21963094;22022581;22169276;22268729;22365833;22505724;22863883;23071334;23084401;23145110;23184937;23246001;23398456;23455924;23734213;24337577;24550385;24657165;24816145;25011449;8125298;8619474;9110174 79084 H0Y711;Q9BQA1 AB073603;AB074171;ABBA01068397;AF052183;AF478464;AK022860;AK223189;AK296163;AK298179;AL390195;AMYH02001727;AY225316;BC001679;BC006477;BC009411;BC011778;BC016946;CH471122;NM_024102 AAH01679;AAH06477;AAH09411;AAH11778;AAH16946;AAL79917;AAP79114;ADQ32672;BAD38641;BAD96909;BAE45736;BAG51128;BAG58902;BAG60450;EAW56493;EAW56494;NP_077007;Q9BQA1 Hs.204773 1674258;1687586;1692086;1777741;2134175 AL033683;D1S2199;NIB1144;RH11857;SHGC-75307 HKMT1069;MEP-50;MEP50;MGC2722;Nbla10071;RP11-552M11.3;p44;p44/Mep50 OTTHUMP00000013472;OTTHUMP00000013473;WD repeat-containing protein 77;androgen receptor cofactor p44;methylosome protein 50 APPROVED protein-coding ENSG00000116455 HGNC:29652 14387 611734 PROVISIONAL 1626141 WDR82P1 WD repeat domain 82 pseudogene 1 3 3 3 q11.2 93041883 93044568 - 94654443 94657128 - 94935599 94938284 - 11181995;16253997 728505 ABBA01026961;ABBA01026962;AC140059;AMYH02007256;CH471052;NG_006256 EAW79892 1727943 G63391 SW2;SWD2;WDR82;WDR82B;hCG26824 pseudo HGNC:32447 INFERRED 1626190 WDR82P2 WD repeat domain 82 pseudogene 2 1 1 1 p22.2 90244550 90248121 - 91997679 92001426 - 91532122 91535869 - 441891 ABBA01045565;AL355871;AMYH02001465;NG_006032 1676554 RH65382 WDR82C pseudo HGNC:33513 INFERRED 1604285 WDR82 WD repeat domain 82 TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010] 3 3 3 p21.2 52267750 52291971 - 52288438 52312659 - 52254422 52278643 - 6480464;9479053 22663077 12477932;12975309;14702039;16253997;17041588;17355966;17998332;18680430;18838538;19433449;20360068;20516061;21139048;21890473;21900206;21906983;21926972;21963094;22446626;22505724;22939629;22952844;23000965;23110726;23383273;23524849;23974872;24332808;24816145;25027693 80335 C9J355;C9JBU3;Q6UXN9 ABBA01024510;AC092045;AF132207;AF173977;AI478905;AK074290;AK098435;AK123860;AK130177;AK291380;AMYH02006799;AY358264;BC011760;BC018941;BX648628;CH471055;DB500464;NM_025222 AAG35553;AAH11760;AAH18941;AAQ13620;AAQ88631;BAB85039;BAF84069;EAW65202;EAW65203;NP_079498;Q6UXN9 Hs.194110 1670334;1674307;1676554;1718401;1721573;1740217;1746045;1767938;2112578;2179580;2185928;5015961;5022322;5037552;7186165 D11S2560;D15S1477;D3S1648;D3S3025;D3S4423;D8S2279;G59796;RH122975;RH125637;RH65382;SHGC-34682;SHGC-77002;STS-H08817;STS-N92524 MST107;MSTP107;PRO2730;PRO34047;SWD2;TMEM113;WDR82A OTTHUMP00000197255;WD repeat-containing protein 82;transmembrane protein 113 APPROVED protein-coding ENSG00000164091 HGNC:28826 15183 611059 VALIDATED 1601942 WDR83 WD repeat domain 83 This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 19 19 19 p13.2 12667332 12676360 + 12777618 12786646 + 12666804 12675832 + 6480464;8554872 11991638;12477932;15118098;15489334;16407229;16712791;17058450;17207965;19429104;22365833;22491477;22505724;23439680;23455924;7757816;8125298 84292 F8VSE4;G3V221;H0YIE8;H7C0S9;Q9BRX9 ABBA01029782;ABBA01029783;AC010422;AK074525;AK223195;AK314164;AMYH02035550;BC005870;CB143206;CH471106;NG_015814;NM_001099737;NM_032332;NR_029375;Z46189 AAH05870;ADQ32315;BAD96915;BAG36848;EAW84282;EAW84283;EAW84284;NP_001093207;NP_115708;Q9BRX9 Hs.657204 1734672;1743445;2118878;2119630;5491691 D19S677E;GDB:335318;MARC_7999-8000:996688236:1;WI-18725;WI-19573 MGC4238;MORG1 MAPK organizer 1;OTTHUMP00000240871;OTTHUMP00000240876;WD repeat domain-containing protein 83;mitogen-activated protein kinase organizer 1 APPROVED protein-coding ENSG00000123154 HGNC:32672 14730 REVIEWED 6769350 WDR86-AS1 WDR86 antisense RNA 1 7 7 7 q36.1 145663790 145667602 + 151106322 151110134 + 151409161 151413354 + 14702039;16344560 100131176 ABBA01035154;AC005996;AK095986;AMYH02017074;BC043579;BX092283;DA818594;NR_034012;NR_034013;NR_109857 Hs.659231 2163518 GDB:4585553 APPROVED ncrna ENSG00000243836 HGNC:41186 VALIDATED 1605383 WDR83OS WD repeat domain 83 opposite strand ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); bis(2-ethylhexyl) phthalate (ortholog) 19 19 19 p13.2 12668595 12670179 - 12778881 12780465 - 12668067 12669651 - 6480464;8554872 10810093;12477932;14702039;15489334;17207965;22645275 51398 M0R1D5;Q9Y284 AA694460;ABBA01029783;AC010422;AF059620;AF078861;AF151898;AK091030;AK311944;AMYH02035550;BC001192;BC042919;BC061912;BG818399;CH471106;CQ834262;CS488890;NG_008318;NG_015814;NM_016145 AAD34135;AAD44493;AAG43119;AAH01192;AAH42919;AAH61912;ADQ33050;BAG34885;CAH05346;CAM55964;EAW84285;EAW84286;NP_057229;Q9Y284 Hs.108969;Hs.657204 2119630;5491691 MARC_7999-8000:996688236:1;WI-18725 C19orf56;PTD008 UPF0139 membrane protein C19orf56;WDR83 opposite strand;hypothetical protein LOC51398;protein Asterix APPROVED protein-coding HGNC:30203 17922 VALIDATED 1602453 WDR87 WD repeat domain 87 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (+)-catechin 19 19 19 q13.13 35176408 35198258 - 38375213 38397317 - 37884573 37906677 - 8554872 21139048 83889 B4DZG8;E7ESW6;Q6ZQQ6 ABBA01040648;ABBA01040649;ABBA01040650;AC016582;AK128826;AK301941;AK302913;AMYH02036054;AMYH02036055;AMYH02036056;AY026504;HY010892;NM_001291088;NM_031951;XM_005259304;XM_005259305;XM_006723411 AAK20167;BAC87627;BAG63361;BAG64080;NP_001278017;NP_114157;Q6ZQQ6;XP_005259361;XP_005259362;XP_006723474 Hs.664194 2219216 NYD-SP11__6094 FLJ52608;NYD-SP11 OTTHUMP00000045857;OTTHUMP00000195587;WD repeat-containing protein 87;testis development protein NYD-SP11 protein-coding ENSG00000171804 HGNC:29934 VALIDATED 1604947 WDR86 WD repeat domain 86 INTERACTS WITH all-trans-retinoic acid; valproic acid; benzo[a]pyrene (ortholog) 7 7 7 q36.1 145635453 145664592 - 151077536 151107775 - 151380450 151410705 - 6480464 12477932;16344560 349136 Q86TI4 AACC02000108;ABBA01035154;ABBA01035155;AC005486;AC005996;AK125347;AK296049;AK301628;AMYH02017073;AMYH02017074;BC047921;BC107125;BI757623;BX338490;BX390499;CH471173;DA267732;NM_001284260;NM_001284261;NM_001284262;NM_198285;XM_005249989;XM_005249990;XM_006715966 AAI07126;BAC86140;BAG58813;BAG63113;EAL24513;EAW53995;EAW53996;EAW53997;EAW53998;NP_001271189;NP_001271190;NP_001271191;NP_938026;Q86TI4;XP_005250046;XP_005250047;XP_006716029 Hs.647083 1754611;1775096;2122317;2141505;2163518 D7S2841;GDB:4585257;GDB:4585553;SHGC-132944;SHGC-57659 FLJ51355;MGC129839 OTTHUMP00000198463;OTTHUMP00000212012;WD repeat-containing protein 86 protein-coding ENSG00000187260 HGNC:28020 14183 VALIDATED 1606735 WDR88 WD repeat domain 88 INTERACTS WITH aflatoxin B1; arsane; arsenic atom 19 19 19 q13.11 30316626 30360287 + 33622949 33667830 + 33132043 33176923 + 6480464 12477932;19850743;21832049 126248 K7EPH1;Q6ZMY6 ABBA01039615;ABBA01039616;ABBA01039617;ABBA01039618;AC008738;AI982942;AK131444;AMYH02035934;AMYH02035935;AMYH02035936;BC031227;HC007384;NM_173479;XM_006723012;XM_006723013 AAH31227;AAI48667;BAD18589;CBH19497;NP_775750;Q6ZMY6;XP_006723075;XP_006723076 Hs.211046 PQWD PQQ repeat and WD repeat domain containing;PQQ repeat and WD repeat-containing protein;WD repeat-containing protein 88 protein-coding ENSG00000166359 HGNC:26999 14033 VALIDATED 1316567 WDR89 WD repeat domain 89 INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; copper(2+) sulfate 14 14 14 q23.2 44114416 44159247 - 64063757 64108641 - 63597039 63641923 - 6480464 12477932;14702039;15342556;15489334;15635413;16169070;16344560;17207965;18029348;21832049;21906983;21963094;21988832 112840 G3V4B8;Q96FK6 ABBA01018330;ABBA01018331;ABBA01018332;ABBA01018333;AF115513;AK095324;AL136038;AMYH02029339;BC010698;BI603622;BP278550;BX248008;CH471061;DA882425;DB178690;NM_001008726;NM_001258272;NM_080666 AAH10698;AAO06950;ADQ32353;BAC04530;CAD62336;EAW80831;EAW80832;NP_001008726;NP_001245201;NP_542397;Q96FK6 Hs.655666;Hs.741323 1336741;1850207;2145268 D14S1001;SHGC-30609;SHGC-36643 C14orf150;MGC9907;MSTP050 OTTHUMP00000179056;OTTHUMP00000245216;WD repeat-containing protein 89 protein-coding HGNC:20489 12635 VALIDATED 1604213 WDR90 WD repeat domain 90 INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 16 16 16 p13.3 899531 917986 + 699363 717833 + 649363 667833 + 6480464 11157797;11572484;12477932;14702039;23446634;25011449 197335 F8VUX9;G3V201;H0YHN4;H0YHV6;H0YI59;H0YIW5;Q96KV7 AB067511;ABBA01030359;AE006464;AK091062;AK092719;AK093609;AK093802;AK126622;AK131510;AL022341;AMYH02031201;AMYH02031202;BC062304;BC065836;BC121185;BC121186;KF456137;NM_145294;XM_005255160;XM_005255161;XM_006720860;XM_006720861;XM_006720862;XM_006720863;XR_429637;Z92544 AAH65836;AAI21186;AAI21187;AAK61239;BAB67817;BAC03575;BAC04205;BAC04225;BAD18654;NP_660337;Q96KV7;XP_005255217;XP_005255218;XP_006720923;XP_006720924;XP_006720925;XP_006720926 Hs.511903 1686861;1689853;1697220;2126835;2126837;5016352;5022200;5022578 A005Y21;D1S1423;G20595;L18426;L30021;RH102102;RH36857;RH80151 C16orf15;C16orf16;C16orf17;C16orf18;C16orf19;FLJ36483;FLJ44660;KIAA1924 OTTHUMP00000045700;OTTHUMP00000241275;WD repeat-containing protein 90 protein-coding ENSG00000161996 HGNC:26960 08311;14118 PROVISIONAL 6481557 WDR95P WD repeat domain 95, pseudogene 13 13 31651391 31689836 + 31077254 31115699 + 100873795 ABBA01010121;AL137142;AL158065;AMYH02027804;AMYH02027805;AMYH02027806;NG_032519 APPROVED pseudo HGNC:42637 INFERRED 1605887 WDR92 WD repeat domain 92 This gene encodes a protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 2 2 2 p14 68206901 68234275 - 68357281 68384692 - 68130149 68157560 - 6480464 12477932;14676191;14702039;15342556;16487927;16600877;18538670;19450687;21139048;21906983;22610502;22863883;22939629;23844004;24255178;24324551;24816145;25036637 116143 H7C389;Q8ND98;Q96MX6 ABBA01075479;ABBA01075480;AC017083;AK056303;AK058090;AK090527;AL834142;AMYH02004004;AMYH02004005;AY541587;BC014022;BC020271;BC036904;BC066657;BP271204;CH471053;NM_001256476;NM_138458;NR_046234 AAH14022;AAH66657;AAS48106;AAY14713;ACE86470;ACE87151;ACE87810;ACT64497;BAB71143;BAB71660;CAD38855;EAW99880;EAW99881;EAW99882;EAW99883;NP_001243405;NP_612467;Q96MX6 Hs.631877 1670511;5014039;5014051;5015619;5037552 D11S3114;D22S1584;D8S2278;D8S2279;RH68554 FLJ31741 OTTHUMP00000159961;OTTHUMP00000205522;WD repeat-containing protein 92;WD repeat-containing protein Monad;monad APPROVED protein-coding ENSG00000243667 HGNC:25176 14012 610729 VALIDATED 1606736 WDR81 WD repeat domain 81 This gene encodes a multi-domain transmembrane protein, which is predominantly expressed in the brain. Mutations in this gene are associated with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 17 17 17 p13.3 1635525 1657607 + 1619817 1641893 + 1716523 1738599 + 6480464;7240710;8699517;8554872 12477932;14702039;15489334;19156129;19389623;20705733;21145461;21822214;21906983;21963094;21987572;22505724;22686558;23022100;23602568;24068962 124997 B7Z6V3;C9JCF9;C9JD20;E9PDG3;I3L1G2;I3L3U7;K7ELV8;Q24JR4;Q562E7 ABBA01054671;ABBA01054672;AC130343;AC206360;AI168277;AI916244;AK074111;AK074356;AK091136;AK122972;AK123896;AK127946;AK298567;AK300986;AL834379;AMYH02032751;BC092513;BC114519;BC114568;CH471108;NG_032811;NM_001163673;NM_001163809;NM_001163811;NM_152348;XM_005256454;XM_006725254 AAH92513;AAI14520;AAI14569;BAB84937;BAC03593;BAG53978;BAG54603;BAH12815;BAH13389;CAD39042;EAW90582;EAW90583;EAW90584;NP_001157145;NP_001157281;NP_001157283;NP_689561;Q562E7;XP_005256511;XP_006725317 Hs.234572 1734540;2121272;2165805;2187403 D17S1468E;RH15862;SHGC-32238;WIAF-2225 CAMRQ2;FLJ23776;FLJ33817;PPP1R166 OTTHUMP00000204690;OTTHUMP00000207123;OTTHUMP00000208973;OTTHUMP00000208974;WD repeat-containing protein 81 APPROVED protein-coding ENSG00000167716 HGNC:26600 08748 610185;614218 REVIEWED 1604328 WDR93 WD repeat domain 93 ENCODES a protein that exhibits oxidoreductase activity, acting on NAD(P)H (inferred); INVOLVED IN electron transport chain (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); pirinixic acid (ortholog) 15 15 15 q26.1 66636801 66689635 + 90234028 90286869 + 89690797 89743655 + 6480464;8554872 12477932;14702039 56964 B4DXL7;B4E3E2;Q6P2C0 ABBA01053019;AC013787;AC079075;AK097525;AK302032;AK304683;AL390084;AL390085;AMYH02031026;BC051026;BC064626;CH471101;NM_001284395;NM_001284396;NM_020212;XM_006720614;XM_006720615;XM_006720616;XM_006720617;XM_006720618 AAH64626;BAC05088;BAG63429;BAG65454;CAB98208;CAB98209;EAX02063;EAX02064;EAX02065;NP_001271324;NP_001271325;NP_064597;Q6P2C0;XP_006720677;XP_006720678;XP_006720679;XP_006720680;XP_006720681 Hs.177557 1777362 RH47277 WD repeat-containing protein 93 protein-coding ENSG00000140527 HGNC:26924 14253 VALIDATED 1346298 WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 ENCODES a protein that exhibits ubiquitin-protein transferase activity (inferred); INVOLVED IN protein ubiquitination (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; cadmium atom 2 2 2 q24.2 153706784 153757716 - 160092304 160143304 - 159235793 159286793 - 737633;1580863;6480464 12477932 11329013;14702039;15489334;15815621;23940030;24250222;8889548 151525 B8ZZF2;D3DPA6;Q8N9V3 ABBA01004860;ABBA01004861;AC008277;AC009307;AK093494;AK129983;AL040518;AMYH02005067;AMYH02005068;BC029520;BG186973;CB240898;CH471058;DR000438;KF456729;NM_001128212;NM_001128213;NM_152528;XM_005246355;XM_005246356;XM_006712341;XM_006712342 AAH29520;AAX93043;BAC04184;EAX11408;EAX11409;EAX11410;EAX11411;EAX11412;EAX11413;EAX11414;EAX11415;EAX11416;NP_001121684;NP_001121685;NP_689741;Q8N9V3;XP_005246412;XP_005246413;XP_006712404;XP_006712405 Hs.20848 1337695;1758861;1769421 D2S2190;RH68828;SHGC-150979 FLJ36175;UBOX6;WDSAM1 2610014F08Rik;OTTHUMP00000162899;OTTHUMP00000204785;OTTHUMP00000204786;OTTHUMP00000204788;WD repeat and SAM domain containing 1;WD repeat, SAM and U-box domain containing 1;WD repeat, SAM and U-box domain-containing protein 1 protein-coding ENSG00000196151 HGNC:26697 08773 VALIDATED 1321224 WDTC1 WD and tetratricopeptide repeats 1 ENCODES a protein that exhibits enzyme inhibitor activity (inferred); histone binding (inferred); histone deacetylase binding (inferred); INVOLVED IN cellular chemical homeostasis (inferred); cellular response to insulin stimulus (inferred); glucose metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; diazinon; paracetamol 1 1 1 p36.11 25958352 26032299 + 27561007 27635124 + 27234516 27308633 + 737633;6480464;8554872 12477932 10470851;12421765;12717455;14702039;15489334;16344560;16949367;16964240;18029348;18187620;19238144;19295130;19615732;20360068;20508642;20562859;21139048;21145461;21987572;22053931;22797925;24250222;25011449 23038 H0YEI6;Q8N5D0 AB028960;ABBA01034964;ABBA01034965;ABBA01034966;ABBA01034967;ABBA01034968;ABBA01034969;AK001734;AK023101;AK023778;AK315564;AL590640;AMYH02000596;AMYH02000597;AMYH02000598;BC032523;CH471059;DA185355;DB072151;FO393419;HY218382;NM_001276252;NM_015023 AAH32523;ADZ15959;BAA82989;BAA91868;BAB14675;EAX07769;EAX07770;EAX07771;EAX07772;NP_001263181;NP_055838;Q8N5D0 Hs.469154 1775555;2115333;2146615 D1S2361;RH69371;SHGC-74467 ADP;DCAF9;KIAA1037 DDB1 and CUL4 associated factor 9;OTTHUMP00000004473;OTTHUMP00000004626;WD and tetratricopeptide repeats protein 1;adipose homolog protein-coding ENSG00000142784 HGNC:29175 10307 VALIDATED 1606020 WDR91 WD repeat domain 91 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH benzene; bisphenol A; 17beta-estradiol (ortholog) 7 7 7 q33 129606070 129633795 - 134868590 134896316 - 135183838 135211564 - 6480464;8554872 11042152;11076863;11230166;12477932;14702039;15489336;16169070;16381901;19460752;24550385;25011449 29062 A4D1P6;C9J1X0 ABBA01001113;ABBA01001114;AC009542;AC083862;AF161534;AK001606;AK022935;AK074466;AL136940;AMYH02016814;BC009939;BC017246;BC063394;BX640957;CH236950;CH471070;CR533561;NM_014149;XM_005250285;XR_242231;XR_242232 A4D1P6;AAF29021;AAH09939;AAH17246;AAH63394;BAA91785;BAB14316;CAB66874;CAE45977;CAG38592;CAL38087;EAL24062;EAW83842;EAW83843;EAW83844;EAW83845;NP_054868;XP_005250342 Hs.459858 1645531;1647766;1660964;2156100;5491461 GDB:1317916;MARC_13897-13898:1007564522:1;RH12504;RH45889;WI-12424 HSPC049 OTTHUMP00000207985;OTTHUMP00000207986;WD repeat-containing protein 91 protein-coding ENSG00000105875 HGNC:24997 11035 VALIDATED 1602877 WDYHV1 WDYHV motif containing 1 ENCODES a protein that exhibits protein-N-terminal glutamine amidohydrolase activity (ortholog); INVOLVED IN cellular protein modification process (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (ortholog); nucleus (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; cyclosporin A 8 8 8 q24.13 120616625 120641908 + 124428965 124454261 + 123416725 123442240 + 6480464;8554872 12477932;14702039;16189514;16344560;16713569;17207965;19060904;8125298 55093 E5RHC2;E5RIY9;E9PRB7;H0YBV4;Q96HA8 ABBA01037874;ABBA01037875;ABBA01037876;ABBA01037877;AC021305;AK001066;AK225643;AK293492;AMYH02018705;AMYH02018706;AU119047;BC008781;BG528966;CH471060;KF458841;NM_001283024;NM_001283027;NM_018024;XM_006716597 AAH08781;ADQ32795;BAA91488;BAG56979;EAW92037;EAW92038;EAW92039;NP_001269953;NP_001269956;NP_060494;Q96HA8;XP_006716660 Hs.18029 1671259;1711916 G49569;SGC30243 C8orf32;FLJ10204 N-terminal Gln amidase;OTTHUMP00000228396;OTTHUMP00000228397;OTTHUMP00000228399;WDYHV motif-containing protein 1;nt(Q)-amidase;protein N-terminal glutamine amidohydrolase;protein NH2-terminal glutamine deamidase protein-coding ENSG00000156795 HGNC:25490 07653 VALIDATED 1352233 WEE2 WEE1 homolog 2 (S. pombe) ENCODES a protein that exhibits ATP binding (inferred); magnesium ion binding (inferred); non-membrane spanning protein tyrosine kinase activity (inferred); INVOLVED IN female meiotic division (ortholog); female pronucleus assembly (ortholog); negative regulation of oocyte maturation (ortholog); PARTICIPATES IN cell cycle pathway, mitotic; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus 7 7 7 q32 136129792 136152709 + 141408153 141431071 + 141708353 141731271 + 6907045;8554872 11029659;11181995;14702039;16341674;18029348;22623531;23568457 494551 H7C5P0;P0C1S8 ABBA01034109;AC004918;AK131218;AMYH02016923;BG402079;BM790836;CH236950;CH471070;NM_001105558 AAI72300;EAW83977;NP_001099028;P0C1S8 Hs.657927 1341880;1644295;7184454 D7S2513;G31021 FLJ16107;WEE1B OTTHUMP00000212265;wee1-like protein kinase 1B;wee1-like protein kinase 2;wee1B kinase protein-coding ENSG00000214102 HGNC:19684 614084 VALIDATED 1315782 WFDC10A WAP four-disulfide core domain 10A This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40966905 40968351 + 44258385 44259831 + 45629746 45631192 + 1580863;6480464 11780052;12206714;12477932;15950183;23292442 140832 Q9H1F0 ABBA01052662;AL031671;AMYH02037151;AY038182;BC131579;CH471077;NM_080753 AAI31580;AAK72469;EAW75827;NP_542791;Q9H1F0 Hs.199380 5492873 UniSTS:483098 C20orf146;WAP10;dJ688G8.3 OTTHUMP00000043659;WAP four-disulfide core domain protein 10A;putative protease inhibitor WAP10A APPROVED protein-coding HGNC:16139 15671 REVIEWED 1601701 WEE2-AS1 WEE2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 7 7 7 q34 136125771 136159662 - 141404052 141438031 - 141704338 141738230 - 8554872 12477932;14702039;16751776 285962 ABBA01034109;AC004918;AC211775;AK098171;AMYH02016923;BC101358;BC101359;BC101360;BC131564;CH236950;CH471070;DQ593963;HG500673;HG500674;HG500675;HG500676;HG500677;HG500678;HG500679;HG500680;HG500681;NR_015392 EAW83976 Hs.17589 1341880;1644295;1690220;7184454 D7S2513;G31021;RH80733 RP5-894A10.5 APPROVED ncrna ENSG00000228775 HGNC:48669 08286 VALIDATED 1343114 WFDC10B WAP four-disulfide core domain 10B This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41021789 41042162 - 44313290 44333658 - 45684651 45705019 - 6480464 11780052;12206714;12477932;15489334;15950183;23292442 280664 Q8IUB3 ABBA01052664;ABBA01052665;AF454506;AF454507;AL031671;AL109656;AMYH02037152;BC121071;BC121072;CH471077;NM_172006;NM_172131 AAI21072;AAI21073;AAN70989;AAN70990;EAW75822;EAW75823;NP_742003;NP_742143;Q8IUB3 Hs.237392 2128595;2172664;5492873 RH66090;SHGC-31227;UniSTS:483098 WAP12 OTTHUMP00000160718;OTTHUMP00000196689;protease inhibitor WAP12 APPROVED protein-coding ENSG00000182931 HGNC:20479 15672 REVIEWED 1351256 WFDC11 WAP four-disulfide core domain 11 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40985710 41007377 - 44277202 44298878 - 45648563 45670239 - 11780052;12206714;12477932;15489334;15950183;17207965;20379614;23292442 259239 Q8NEX6 ABBA01052663;ABBA01052664;AL031671;AMYH02037152;AY047609;BC062670;CH471077;NM_147197 AAH62670;AAK97771;ADQ32079;EAW75824;EAW75825;NP_671730;Q8NEX6 Hs.374924 1857354 Z94559 MGC71905;WAP11 OTTHUMP00000043657;OTTHUMP00000043658;protease inhibitor WAP11 APPROVED protein-coding ENSG00000180083 HGNC:20478 15673 REVIEWED 1317355 WEE1 WEE1 G2 checkpoint kinase This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 9716710 9732726 + 9595197 9615016 + 9573650 9593468 + 1580863;6480464;6907045 10564259;10775038;11528126;11531413;11691994;11839808;12186947;12214061;12477932;12525641;12601350;12669309;12679038;1384126;1396589;14534529;14702039;14760118;15070733;15142377;15150265;15161933;15175024;15253423;15254189;15265780;15302935;15324660;15583029;15725353;15735666;15735702;15761153;15778465;15780175;15817944;15837193;15964826;16085715;16354571;16429131;16533053;17081983;17192257;17431037;17586317;17620599;17687495;17764157;18385244;1840647;18514189;18560763;18820127;18950845;19020832;19126550;19275588;19821025;19858290;19903823;19913121;19953087;20012529;20038582;20360068;20367638;20372791;20508983;20628086;20668041;20832752;21318276;21358821;21529352;21859861;22017875;22112940;22118674;22289989;22623531;22641220;22692537;22719872;22847610;22907750;22935698;22942255;22990118;23051732;23416158;23531080;23538902;23767999;24158819;24336073;24536047;24626094;7673359;7743995;7774574;8084605;8348613;8428596;8432534;9268380;9499405;9618490 7465 E9PQ51;E9PRI3;E9PRU3;H0YEJ2;P30291;Q86V29 AB019580;AB019581;ABBA01061170;ABBA01061171;AC011979;AC122179;AJ277546;AK122837;AMYH02024321;BC051831;BC070052;BQ024511;BX641032;CH471064;NM_001143976;NM_003390;U10564;X62048;XM_005253118;XM_005253119 AAB60401;AAH51831;AAH70052;ACE86895;ACE87582;BAG53753;CAA43979;CAC14173;CAE46020;EAW68586;EAW68587;EAW68588;NP_001137448;NP_003381;P30291;XP_005253175;XP_005253176 Hs.249441 1738099;1771040;2141257;2191319;5015861;5037552;7185938 D10S16;D11S3727;D8S2279;MARC_17360-17361:1021651098:1;RH18120;WEE1 DKFZp686I18166;FLJ16446;WEE1A;WEE1hu OTTHUMP00000231338;OTTHUMP00000231339;WEE1 homolog;WEE1+ homolog;wee1-like protein kinase;wee1A kinase APPROVED protein-coding ENSG00000166483 HGNC:12761 01907 193525 REVIEWED 1352525 WFDC13 WAP four-disulfide core domain 13 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41039159 41045960 + 44330655 44337456 + 45702016 45708817 + 6480464 11780052;12206714;12477932;15950183;23292442 164237 Q8IUB5 ABBA01052665;AF454505;AL109656;AMYH02037152;BC104423;CH471077;FB746608;FB746702;NM_172005 AAI72328;AAN70988;CAT04632;CAT04669;EAW75820;EAW75821;NP_742002;Q8IUB5 Hs.406733;Hs.690734 2218642 WFDC13__4900 C20orf138;WAP13;dJ601O1.3 OTTHUMP00000043661;WAP four-disulfide core domain protein 13;protease inhibitor WAP13 APPROVED protein-coding ENSG00000168634 HGNC:16131 15675 REVIEWED 68974 WFDC1 WAP four-disulfide core domain 1 This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. This gene is downregulated in many cancer types and may be involved in the inhibition of cell proliferation. The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 16 16 16 q24.3 68630194 68665222 + 84328244 84363450 + 84294645 84329851 + 1580863;2291859;2291860;6480464 15305341;15305342 10967136;12032731;12477932;14522910;14702039;15489334;16303743;17942534;18842679;19460752;19488830;20090771;21545747;21936827;21936828;21936833;21988832;22589738;23502471;24376456 58189 Q9HC57 ABBA01016913;ABBA01016914;ABBA01016915;AC010551;AF169631;AF302109;AK075061;AL713785;AMYH02032564;BC029159;BQ670532;BQ671964;CD519223;CH471114;HY179606;NM_001282466;NM_001282467;NM_021197;W49668;XM_005256079 AAG15263;AAG16647;AAH29159;ABM84291;ABM87681;BAC11377;EAW95486;EAW95487;NP_001269395;NP_001269396;NP_067020;Q9HC57;XP_005256136 Hs.36688 1676162;1697850;1712310;5015619;5022578 D11S3114;D1S1423;G54064;RH102452;RH93139 PS20 OTTHUMP00000174994;WAP four-disulfide core domain 1 homolog;WAP four-disulfide core domain protein 1;prostate stromal protein ps20;ps20 growth inhibitor APPROVED protein-coding ENSG00000103175 HGNC:15466 05614 605322 REVIEWED 8662735 WFDC21P WAP four-disulfide core domain 21, pseudogene 17 17 17 q23.1 54624444 54629345 - 58160927 58165828 - 60083566 60088467 - 24744378 645638 ABBA01035418;AC025048;AC245758;AF086204;NR_030732 Hs.463652 LNCDC;lnc-DC pseudo ENSG00000261040 HGNC:50357 615772 VALIDATED 1313240 WFDC3 WAP four-disulfide core domain 3 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41113350 41131041 - 44402847 44420547 - 45774208 45791908 - 1580863;6480464;8554872 10680116;11780052;12206714;12477932;15489334;15950183;20467438;23292442 140686 F2Z2G4;F2Z2G5;H0Y2V5;Q8IUB2 ABBA01052667;AF488306;AL050348;AL591713;AMYH02037153;BC026014;BC102013;BC102014;BX091378;CH471077;NM_080614 AAH26014;AAI02014;AAI02015;AAI46427;AAI48861;AAN70993;CAC39444;EAW75813;EAW75814;EAW75815;EAW75816;EAW75817;NP_542181;Q8IUB2 Hs.419126 1649595;1855414;2126913;2183988 G01538;G18105;Z94517;Z94564 WAP14;dJ447F3.3 OTTHUMP00000031166;OTTHUMP00000196627;OTTHUMP00000196629;WAP four-disulfide core domain protein 3;protease inhibitor WAP14;putative protease inhibitor WAP14;whey acidic protein 14 APPROVED protein-coding ENSG00000124116 HGNC:15957 15676 REVIEWED 1344525 WFDC2 WAP four-disulfide core domain 2 This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40806906 40818684 + 44098229 44110172 + 45469754 45481532 + 1580863;6480464 10570965;11780052;11965550;12206714;12477932;12839961;15489334;15781627;15950183;16169070;16600032;16740002;1686187;1693137;17207965;17448597;18546615;19337252;19732003;19774626;19927341;20171287;20360068;20381233;20490961;20593939;21115941;21633297;21720250;21738039;21833668;21923475;22015929;22037318;22105734;22117965;22284961;22301440;22342977;22373583;22426406;22430259;22524132;22525819;22684816;22745553;22875782;22962406;22967799;22993374;23001907;23084584;23093276;23093277;23095772;23096757;23129262;23139753;23234010;23343214;23353556;23426716;23464464;23608327;23640061;23894390;23970060;24012857;24025389;24034113;24068567;24083699;24252907;24389815;24403483;24748235;24771264;25051914;8125298;9685187 10406 A8K2M3;Q14508 ABBA01052660;AF330259;AF330260;AF330261;AF330262;AK225528;AK290288;AK311966;AL031663;AMYH02037151;AY212888;BC039816;BC046106;BI759775;CH471077;CR456977;GM744623;GM744625;GN341844;NM_006103;X63187 AAH46106;AAL37485;AAL37486;AAL37487;AAL37488;AAO52683;ACE86584;ACE87267;ADQ32963;BAF82977;CAA44869;CAG33258;CAV31701;CAV31702;CAY39341;EAW75836;EAW75837;EAW75838;EAW75839;EAW75840;NP_006094;Q14508 Hs.2719 1675144;2154897 A008O33;SGC30446 EDDM4;HE4;MGC57529;WAP5;dJ461P17.6 OTTHUMP00000031141;WAP domain containing protein HE4-V4;WAP four-disulfide core domain protein 2;epididymal protein 4;epididymal secretory protein E4;epididymis-specific, whey-acidic protein type, four-disulfide core;major epididymis-specific protein E4;putative protease inhibitor WAP5 APPROVED protein-coding ENSG00000101443 HGNC:15939 11684 REVIEWED 1312741 WFDC5 WAP four-disulfide core domain 5 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC domain, and this encoded protein contains two WFDC domains. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40446736 40452445 - 43738093 43743813 - 45109452 45115172 - 1580863;6480464;8554872 10441517;10680116;11780052;12206714;12477932;12975309;15489334;16462094;17112726;17113138;17207965;17511965;19906707;23292442 149708 Q8TCV5 ABBA01052657;AMYH02037147;AY038181;AY358822;BC039173;CH471077;NM_145652;Z93016 AAH39173;AAK72468;AAQ89181;ADQ32433;EAW75877;EAW75878;NP_663627;Q8TCV5 Hs.375031 2218880 WFDC5__4901 PRG5;WAP1;dJ211D12.5 OTTHUMP00000043833;OTTHUMP00000043834;WAP four-disulfide core domain protein 5;p53-responsive gene 5 protein;protease inhibitor WAP1;putative protease inhibitor WAP1 APPROVED protein-coding ENSG00000175121 HGNC:20477 605161 REVIEWED 1352143 WFDC6 WAP four-disulfide core domain 6 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Read-through transcription exists between this gene and the upstream SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) gene. [provided by RefSeq, Nov 2010] 20 20 20 q13.12 40871355 40876654 - 44162836 44168134 - 45534197 45539495 - 1580863;6480464;8554872 11780052;12206714;12477932;15950183;23292442 140870 Q9BQY6 ABBA01052660;AF411861;AL031663;AMYH02037151;BC101600;BC101604;CH471077;NM_080827 AAI01601;AAI01605;AAN03684;CAI21404;CAI21405;EAW75833;EAW75834;EAW75835;NP_543017;Q9BQY6 Hs.673237 C20orf171;MGC126649;MGC126653;WAP6;dJ461P17.11 OTTHUMP00000043709;OTTHUMP00000043710;WAP four-disulfide core domain protein 6;protease inhibitor WAP6;putative protease inhibitor WAP6 APPROVED protein-coding ENSG00000243543 HGNC:16164 15677 REVIEWED 1347537 WFDC8 WAP four-disulfide core domain 8 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40888320 40916496 - 44179791 44207989 - 45551152 45579350 - 1580863 11780052;12206714;15950183;21536719;23292442;23314748 90199 Q8IUA0 ABBA01052660;ABBA01052661;AF492015;AF492016;AL031663;AL121778;AL133571;AL591715;AMYH02037151;CH471077;HC007386;NM_130896;NM_181510;XM_005260607 AAI72333;AAN70997;AAN70998;CAC39449;CAI21403;CBH19498;EAW75828;EAW75829;NP_570966;NP_852611;Q8IUA0;XP_005260664 Hs.116128 2219754;5037552 D8S2279;WFDC8__4902 C20orf170;WAP8;dJ461P17.1 OTTHUMP00000043672;OTTHUMP00000043673;WAP four-disulfide core domain protein 8;WAP motif protein 1;protease inhibitor WAP8;putative protease inhibitor WAP8 APPROVED protein-coding ENSG00000158901 HGNC:16163 11685 REVIEWED 1350341 WFDC9 WAP four-disulfide core domain 9 The WAP-type four-disulfide core (WFDC) domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40945098 40968427 - 44236578 44259907 - 45607939 45631268 - 11780052;12206714;12477932;15489334;15950183;18976975;23292442 259240 Q8NEX5 ABBA01052662;AL031671;AMYH02037151;AW269752;AY047610;BC069295;BC101652;BC101656;CH471077;NM_147198 AAH69295;AAI01653;AAI01657;AAK97772;ADR82723;EAW75826;NP_671731;Q8NEX5 Hs.249828 1774501 Z94589 MGC126701;MGC126705;WAP9;dJ688G8.2 OTTHUMP00000043660 APPROVED protein-coding ENSG00000180205 HGNC:20380 15678 VALIDATED 1349049 WFDC12 WAP four-disulfide core domain 12 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40460700 40461739 - 43752067 43753106 - 45123426 45124465 - 1580863;6480464;8554872 11779191;11780052;12206714;12975309;15950183;23292442 128488 Q8WWY7 ABBA01052657;AMYH02037147;AY037803;AY358678;CH471077;NM_080869;Z93016 AAI40218;AAI46515;AAK68848;AAQ89041;EAW75875;EAW75876;NP_543145;Q8WWY7 Hs.352180 1657195;5493065;5493743 AL023482;UniSTS:484093;UniSTS:494508 C20orf122;SWAM2;WAP2;dJ211D12.4 OTTHUMP00000043835;WAP four-disulfide core domain protein 12;protease inhibitor WAP2;putative protease inhibitor WAP12;single WAP motif protein 2;whey acidic protein 2 APPROVED protein-coding ENSG00000168703 HGNC:16115 15674 609872 REVIEWED 1353350 WFS2 Wolfram syndrome 2 ASSOCIATED WITH Wolfram Syndrome 2 (inferred) 7240710 10739754 54117 HGNC:12763 604928 1346693 WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008] 17 17 17 q21.33 45373930 45381027 + 48912011 48919709 + 50835244 50842348 + 6480464;8554872 11329013;11928817;12477932;12595574;12709070;12975309;16344560;18596030;20026378;21054789;22395277;23829672 124857 C9J6G4;Q8TEU8 ABBA01041248;AC091062;AF468657;AK127743;AK131196;AK312821;AL537450;AMYH02033602;AY358142;BC140842;BC140844;BG221308;BQ954191;CH471109;DB235333;NM_175575 AAI40843;AAI40845;AAL77058;AAQ88509;BAD18391;BAG35678;BAG54563;EAW94579;EAW94580;NP_783165;Q8TEU8 Hs.211475 GASP-1;WFDC20B;WFIKKNRP;hGASP-1 OTTHUMP00000221801;WAP four-disulfide core domain 20B;WAP, FS, Ig, two KU and NTR module related protein;WAP, follistatin, immunoglobulin, kunitz and NTR domain-containing-related protein;WAP, kazal, immunoglobulin, kunitz and NTR domain-containing protein 2;WFIKKN-related protein;growth and differentiation factor-associated serum protein 1;multivalent protease inhibitor protein APPROVED protein-coding ENSG00000173714 HGNC:30916 18303 610895 REVIEWED 1342711 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 881146 884250 + 681012 684116 + 631012 634116 + 1580863;6480464 11157797;11274388;11928817;12477932;12709070;15146197;16791741;18596030;21054789;21900206;23829672 117166 Q96NZ8 ABBA01030360;ABBA01030361;AE006464;AF422194;AK075356;AK128777;AK314757;AMYH02031198;BC101602;BC101606;CH471112;CN425794;NM_053284;Z84479 AAI01603;AAI01607;AAK61237;AAL18839;BAC11566;BAG37295;EAW85790;NP_444514;Q96NZ8 Hs.345818 1856827;2122978;2131570;5093330 A009L31;G32656;RH41911;SHGC-60694 C16orf12;GASP-2;MGC126651;MGC126655;RJD2;WFDC20A;WFIKKN;hGASP-2 OTTHUMP00000115417;WAP four-disulfide core domain 20A;WAP, FS, Ig, KU, and NTR-containing protein;WAP, follistatin, immunoglobulin, kunitz and NTR domain-containing protein;WAP, kazal, immunoglobulin, kunitz and NTR domain-containing protein 1;growth and differentiation factor-associated serum protein 2 APPROVED protein-coding ENSG00000127578 HGNC:30912 12153 608021 REVIEWED 6769470 WHAMMP1 WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 1 15 15 q13.3 32812049 32825942 - 32519848 32533741 - 12477932 100288615 ABBA01007967;ABBA01157829;AC009673;AC135983;AC243655;BC117556;BI910970;BX643549;CA841617;NR_036650 Hs.562620;Hs.668734 1857453;5024413 L17877;STS-T03898 WHDC1P1 pseudo HGNC:32361 VALIDATED 1606472 WHAMM WAS protein homolog associated with actin, golgi membranes and microtubules This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013] 15 15 15 q25.2 61077027 61102654 - 83476959 83503613 + 82808218 82834861 + 6480464 11853319;14702039;18029348;18226259;18614018;18812086;23027905;23087206 123720 Q8TF30 AB075851;ABBA01029430;AC044907;AI377476;AK097947;AK126887;AMYH02030914;AMYH02030915;CH471188;NM_001080435;XM_005272421;XM_005272422;XM_005272423;XM_005272424;XR_246658 AAI67774;BAB85557;BAC05201;EAW62438;NP_001073904;Q8TF30;XP_005272478;XP_005272479;XP_005272480;XP_005272481 Hs.377360 2122417;2140753;5014051;5016478;5020948;5022200;5037552 D8S2278;D8S2279;G35510;GDB:434012;L18426;RH45182;STS-R78892 KIAA1971;WHDC1 WAS protein homology region 2 domain containing 1;WAS protein homology region 2 domain-containing protein 1;WASP homolog-associated protein with actin, membranes and microtubules;WH2 domain-containing protein 1 protein-coding HGNC:30493 612393 REVIEWED 1346353 WHCR Wolf-Hirschhorn syndrome chromosome region 7240710 7467 HGNC:12764 1602145 WHAMMP2 WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2 15 15 15 q13.1 2323 2776 - 28982729 29003508 + 28737583 28758362 + 10332034;12477932;14702039 440253 AC055876;AC243657;AF129926;AK091254;BC035099;BC066982;BC150524;NR_026589 Hs.558967;Hs.733870 1849107;2143101;2179733;5014740;5037552 D17S610;D8S2279;G29658;RH44663;SHGC-32610 FLJ33935;WHAMML2;WHDC1L2 APPROVED pseudo HGNC:32360 PROVISIONAL 1604174 WHAMMP3 WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 INTERACTS WITH (+)-catechin; hydrogen peroxide; theophylline 15 15 15 q11.2 2323 2776 - 23187728 23208357 - 22664739 22685368 + 6480464 12477932;14702039;18226259 339005 Q1A5X7 ABBA01040232;ABBA01040233;AC138649;AL833132;AMYH02030038;AMYH02030039;BC018097;BC044610;BC048987;BC093703;BC093705;DQ309039;DQ309040;NR_003521 ABD73923;ABD73924 Hs.212670 2143101;2179733;5014740;5015619;5022322;5037552 D11S2560;D11S3114;D17S610;D8S2279;G29658;RH44663 WHAMML1;WHDC1L1 APPROVED pseudo HGNC:27892 VALIDATED 731649 WFS1 Wolfram syndrome 1 (wolframin) This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 4 p16.1 6172234 6205670 + 6271577 6304992 + 6269850 6303265 + 1599813;1580863;6480464;6907045;7240710;7800683;8694398;8694400;8554872;8694393;8694408;8694404;8699517;8694407;8694394;8694396;8694401;8694399;8694405;8694403;8694402 10679252;11709537;11916957;12107816;15008830;15056606;17719176;17968352;18040659;18060660;19799711;21538838;21713316;23595122;9771706 10424813;10521293;10624825;10760554;11161832;11181517;11181571;11295831;11317350;11709538;11920861;12073007;12477932;12605098;12650912;12707947;12754709;12782971;12913071;12955714;14527944;14968315;15234338;15277431;15473915;15489334;15605410;15852062;15912360;15994758;16005363;16043233;16087305;16151413;16169070;16195229;16408729;16550584;16806192;16876316;16965966;16989814;17492394;17517145;17568405;17603484;17947299;18197395;18212765;18426861;18518985;18544103;18566338;18568334;18591388;18597214;18660851;18688868;18694974;18806274;18853134;18984664;18991055;19020324;19042979;19082521;19115052;19139842;19258404;19258739;19279076;19324937;19328217;19330314;19380854;19502414;19598235;19602701;19720844;19734900;19741467;19794065;19814620;19833888;19862325;19877185;19913121;20028947;20069065;20160352;20203524;20215779;20301607;20301750;20361036;20384434;20490451;20509872;20571754;20580033;20581827;20628086;20712903;20802253;20816152;20879858;20889853;21044950;21127832;21143470;21356526;21454619;21564155;21623591;21632151;21823543;21900206;21906983;21963094;21968327;22240535;22498363;22662265;22781099;22983116;23035048;23103830;23144361;23257691;23373429;23499253;23531866;23650218;23845777;23903355;7987399;8595423;9817917 7466 H0Y9G5;O76024 ABBA01012718;AC116317;AF084481;AK295986;AK312897;AMYH02008664;BC030130;BC069213;CH471131;NG_011700;NM_001145853;NM_006005;Y18064 AAC64943;AAH30130;ABW03561;BAG35744;BAG58761;CAA77022;EAW82396;EAW82397;EAW82398;NP_001139325;NP_005996;O76024 Hs.518602;Hs.727283 1335107;1335860;1668265;1729992;1772522;2119611;2219756 D4S126;D4S3007;D4S3023;G01790;SHGC-59709;WFS1__4904;WI-21965 CTRCT41;FLJ51211;WFRS;WFS;WFSL OTTHUMP00000115499;OTTHUMP00000217278;wolframin APPROVED protein-coding ENSG00000109501 HGNC:12762 05864 116400;125853;222300;600965;606201;614296 REVIEWED 1346591 WHSC1L2P Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene 17 17 17 q21.31 38503687 38505809 - 41795682 41797804 - 43718314 43720436 - 11549311 100128016 ABBA01028401;ABBA01028402;AC055813;AMYH02033463;NG_008078;NG_009508 HsT36289;NSD4P;WHSC1L1P APPROVED pseudo HGNC:14647 INFERRED 1601845 WIBG within bgcn homolog (Drosophila) ENCODES a protein that exhibits poly(A) RNA binding; ribosome binding; INVOLVED IN nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; positive regulation of translation; PARTICIPATES IN mRNA decay pathway; FOUND IN exon-exon junction complex; INTERACTS WITH (+)-catechin; benzo[a]pyrene; copper(2+) sulfate 12 12 12 q13.2 55948454 55974296 - 56295197 56321697 - 55901413 55927913 - 6480464;6907045 12438415;12477932;12483225;14702039;16009940;18026120;18029348;18482256;19410547;19953087;20020773;21044950;21139048;21832049;22863883;22939629;23084401;24816145 84305 F8VT68;F8VXH2;G3V5P2;H0YJW5;Q9BRP8 ABBA01008393;ABBA01008394;AC023055;AC025162;AJ459406;AK096922;AMYH02026554;AMYH02026555;BC006135;BC008292;BC009627;BC014976;CH471054;DB466388;NM_001143853;NM_032345 AAH06135;AAH09627;AAH14976;BAC04897;CAD30677;EAW96847;EAW96848;NP_001137325;NP_115721;Q9BRP8 Hs.505687;Hs.524488 1699600;2140319;5015619 D11S3114;RH103401;RH11289 MGC13064;PYM OTTHUMP00000243306;OTTHUMP00000243307;partner of Y14 and mago;protein wibg homolog protein-coding ENSG00000170473 HGNC:30258 17940 VALIDATED 731989 WIF1 WNT inhibitory factor 1 The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010] 12 12 12 q14.3 65109871 65180833 - 65444404 65515346 - 65050624 65121566 - 1580863;2291868;727214;2291870;1643593;2291869;2293188;2298535;2291871;6480464;6907045;8554872 14517837;16436637;16488995;16501252;16575872;17145819;18325051;18432252 10201374;12477932;12975309;15351726;15377999;15389810;15489334;15735743;16007117;16427602;16428476;16476441;16516163;16525492;16609023;17012225;17094650;17171686;17384664;18005197;18079202;18093228;18256869;18701434;19054571;19085002;19174556;19188438;19307728;19453261;19496188;19528461;19570204;19690140;19773381;19787276;19885602;19887605;19926868;20066439;20119713;20197388;20334650;20364027;20376066;20395289;20421722;20573255;20596629;20697356;20811686;20844743;20874008;21052890;21642372;21743455;21819494;21873353;21928342;21988832;22002305;22315090;22333550;22504421;22901505;22951645;22951732;22986341;23193918;23316316;23328978;23358094;23417837;23686431;23746174;23939044;24118380;24131586;24289328;24561119 11197 F5H8A3;H0YFK7;Q9Y5W5 ABBA01026592;AC026124;AC135895;AF122922;AK301818;AL711431;AMYH02026671;AY358344;BC018037;BX647427;CH471054;DB560069;DC315426;NM_007191 AAD25402;AAH18037;AAQ88710;ABM83320;ABM86535;BAG63265;EAW97146;EAW97147;NP_009122;Q9Y5W5 Hs.284122 1705802;1719519;2108643;2135759;2140429;2175971 D12S1508;RH123480;SHGC-36877;SHGC-78985;STS-N90902;WIF1_7996 WIF-1 OTTHUMP00000239565 APPROVED protein-coding ENSG00000156076 HGNC:18081 05541 605186 REVIEWED 1317450 WHSC1 Wolf-Hirschhorn syndrome candidate 1 This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 1806735 1896162 + 1873123 1983934 + 1871396 1982207 + 1580863;6480464;6907045;7240710;8554872 10470851;10945609;11152655;11252005;11337357;12433679;12477932;12715353;15257719;15489334;15677557;15734578;16115125;16197452;16682010;17081983;17239852;17719568;17942756;18029348;18036184;18156491;18172012;18182627;19059936;19121287;19454010;19481544;20301362;20634891;20974671;21139048;21293379;21385930;21527557;21720545;21788515;21832049;22028615;22099308;22586326;22645312;22751105;22797064;22939629;22972034;23159737;23225158;23241889;23269674;23566000;23823660;23900284;24019522;24809779;24816145;8889548;9063753;9207791;9354676;9618163;9787135 7468 D6R9V2;D6RFE7;D6RIS1;H0Y9L4;H0Y9U6;O96028 AB029013;ABBA01029524;AC105448;AF071593;AF071594;AF083386;AF083387;AF083388;AF083389;AF083390;AF083391;AF178206;AF178219;AF330040;AI339675;AI695058;AJ007042;AK026939;AK289697;AL132868;AMYH02008592;AMYH02008593;AMYH02008594;AMYH02008595;AMYH02008596;AY694128;BC020545;BC032731;BC052254;BC070176;BC094825;BC110899;BC141815;BC144464;BC152412;BM982021;CH471131;CX866583;DQ185035;NG_009269;NM_001042424;NM_007331;NM_133330;NM_133331;NM_133334;NM_133335;XM_005248001;XM_005248002;XM_005248005;XM_006713914;XM_006713915 AAC24150;AAC24151;AAD19343;AAD19344;AAD19345;AAD19346;AAD21770;AAD21771;AAF23369;AAF23370;AAH20545;AAH52254;AAH70176;AAH94825;AAI41816;AAI52413;AAI66668;AAK00344;AAU09264;BAA83042;BAF82386;CAB45386;EAW82548;EAW82549;EAW82550;EAW82551;EAW82552;EAW82553;EAW82554;EAW82555;EAW82556;EAW82557;EAW82558;NP_001035889;NP_015627;NP_579877;NP_579878;NP_579889;NP_579890;O96028;XP_005248058;XP_005248059;XP_005248062;XP_006713977;XP_006713978 Hs.113876 1656702;1665493;1672617;1677376;1678205;1695900;1698730;1700088;1731487;1768619;1770218;1789240;1846258;1849887;1911926;1911928;2120187;2125557;2128473;2154891;2218644;5015861;5016478;5020948;5022578;5037552;5109281;7185938 A006P34;D10S16;D1S1423;D1S1425;D4S114;D4S1184;D4S2522E;D4S2799;D4S521;D8S2279;ECD24349;G35510;G65620;GDB:434012;REN26772;REN26773;RH102926;RH103657;RH92099;SHGC-31432;SHGC-59511;SHGC-59822;SHGC-63596;SHGC-67304;SHGC-67654;SHGC-78855;WHSC1__4905 FLJ23286;KIAA1090;MGC176638;MMSET;NSD2;REIIBP;TRX5;WHS IL5 promoter REII region-binding protein;OTTHUMP00000159146;OTTHUMP00000196943;OTTHUMP00000220792;OTTHUMP00000220795;OTTHUMP00000220796;OTTHUMP00000220798;OTTHUMP00000220830;histone-lysine N-methyltransferase NSD2;multiple myeloma SET domain containing protein type III;multiple myeloma SET domain-containing protein;nuclear SET domain-containing protein 2;probable histone-lysine N-methyltransferase NSD2;protein trithorax-5;trithorax/ash1-related protein 5;wolf-Hirschhorn syndrome candidate 1 protein APPROVED protein-coding ENSG00000109685 HGNC:12766 04259 602952 REVIEWED 1603178 WIPF2 WAS/WASL interacting protein family, member 2 This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated organization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived growth factor receptor and the actin polymerization machinery. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35036339 35098581 + 38375556 38438944 + 40219322 40282692 + 6480464;8554872 11829459;12213210;12477932;14506234;14702039;15146197;15489334;15498874;16055720;16344560;16751776;19531213;20936779;21706016;21988832;22558309;22939629;23295955;24324551;24550385;8619474;8889548 147179 A8MWR2;J3KSA3;J3QKM5;J3QQS0;Q8TF74 AB043786;ABBA01031833;ABBA01031834;ABBA01031835;ABBA01031836;AC068669;AC080112;AF370396;AJ431177;AK026913;AK055025;AK055057;AK289578;AK289779;AK290301;AK311544;AK315836;AL834239;AMYH02033395;AMYH02033396;AMYH02033397;AU138315;BC019706;BC025965;BC030561;BC043408;BC047435;BC064504;BC065551;CB240594;CH471152;CN404607;DQ586635;NM_133264;U90911;XM_005257083;XM_005257084 AAH65551;AAQ15232;BAB85113;BAF82267;BAF82468;BAF82990;BAF98727;BAG51456;CAD24007;CAH56360;EAW60648;EAW60649;NP_573571;Q8TF74;XP_005257140;XP_005257141 Hs.421622;Hs.705989;Hs.731598 1663946;1673989;1739427;1754111;1848251;2126253;2168134;2170711;2182733;5015619;5015961;5016596;5022651;7185187 D11S2921;D11S3114;D15S1477;D16S2929E;D17S1423E;D17S1428E;D17S1984;GDB:631802;RH18444;SHGC-132143;STS-H26178;WI-15402;WI-20730 WICH;WIRE OTTHUMP00000164467;OTTHUMP00000164468;WAS/WASL-interacting protein family member 2;WASP-binding protein;WASP-interacting protein-related protein;WIP- and CR16-homologous protein;WIP-related protein APPROVED protein-coding ENSG00000171475 HGNC:30923 18304 609692 VALIDATED 1605986 WIPI1 WD repeat domain, phosphoinositide interacting 1 WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI1, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008] 17 17 17 q24.2 62988989 63025394 - 66417422 66453653 - 68421281 68457512 - 6480464 12477932;14702039;15020712;15489334;15602573;16169070;17618624;19936222;20562859;21317285;21564513 55062 G5EA37;K7EK57;K7EKC5;K7EKN0;K7ELY0;Q5MNZ9 ABBA01028960;AC007780;AK000917;AK301830;AMYH02033871;AMYH02033872;AMYH02033873;AY691424;BC039867;CH471099;DC380076;NG_007093;NM_017983;XM_005257497 AAH39867;AAV80760;ADZ15640;BAA91423;BAG63275;EAW89057;EAW89058;EAW89059;NP_060453;Q5MNZ9;XP_005257554 Hs.463964 1669646;1675738;1679964;1703658;1717925;1762277;1762473;1783580;2146667 RH122789;RH16580;RH80612;RH93843;SHGC-146131;SHGC-146295;SHGC-155164;SHGC-78791;STS-N51941 ATG18;ATG18A;FLJ10055;WIPI49 WD repeat domain phosphoinositide-interacting protein 1;WD40 repeat protein Interacting with phosphoInositides of 49kDa;WD40 repeat protein interacting with phosphoinositides of 49 kDa;WIPI 49 kDa;WIPI-1 alpha;atg18 protein homolog APPROVED protein-coding ENSG00000070540 HGNC:25471 08540 609224 VALIDATED 736993 WIPF1 WAS/WASL interacting protein family, member 1 This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 169037733 169161112 - 175424302 175547667 - 174559574 174682899 - 1580863;6480464;8699517;8554872;7240710 10087612;10202051;10358064;10878810;11331876;11687573;11869681;12029088;12147689;12372256;12437929;12477932;12504004;12591280;12620186;14702039;15469902;15489334;16055720;16344560;16488394;16606694;17213309;17474147;17711847;17890224;17949983;18029348;18258743;19041431;19155218;19322201;19399471;19531213;19817875;20936779;21139048;21706016;21810783;21988832;22231303;22558309;23824909;9405671;9694849 7456 B8ZZ90;C9JB04;C9JTB9;E9PB87;O43516;Q2YDC4 AA599214;AA903457;ABBA01062195;ABBA01062196;AC010894;AC104595;AF031588;AF106062;AK097901;AK301271;AK304194;AL529597;AL832275;AMYH02005279;AMYH02005280;AMYH02005281;BC002914;BC045584;BC110288;BG820214;BM475558;BM542331;BQ016063;BQ441937;BX640870;CH471058;DA674627;NG_032009;NM_001077269;NM_003387;X86019;XM_006712727 AAC03767;AAD45972;AAH02914;AAI10289;AAY14708;ACE86810;ACE87497;BAG62833;BAG65074;CAA60014;CAE45928;EAX11129;EAX11130;EAX11131;EAX11132;EAX11133;EAX11134;EAX11135;NP_001070737;NP_003378;O43516;XP_006712790 Hs.128067 1334809;1662097;1687043;1700792;1739797;1754121;1754283;1765285;1787746;2136288;2140557;2142627;2154135;2156385;2169122 D2S2108E;D2S2307;D2S2630;D2S2870;RH104021;RH45506;RH68869;RH69595;RH69899;RH70933;RH92504;SHGC-132156;SHGC-132298;SHGC-148783;SHGC-173347 MGC111041;PRPL-2;WIP OTTHUMP00000163172;OTTHUMP00000163178;OTTHUMP00000205182;OTTHUMP00000205183;OTTHUMP00000205184;WAS/WASL-interacting protein family member 1;WASP-interacting protein;WASPIP;Wiskott-Aldrich syndrome protein interacting protein;wiskott-Aldrich syndrome protein-interacting protein APPROVED protein-coding ENSG00000115935 HGNC:12736 03835 602357;614493 REVIEWED 1605143 WIPF3 WAS/WASL interacting protein family, member 3 ENCODES a protein that exhibits actin binding (inferred); INVOLVED IN cell differentiation (inferred); Fc-gamma receptor signaling pathway involved in phagocytosis (inferred); innate immune response (inferred); FOUND IN cytosol (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog) 7 7 7 p14.3 29904882 29935185 + 29846170 29956682 + 29806554 29917066 + 6480464 11553796;12372256;12853948;14506234;14702039;17573773;18029348;21348202;21706016;22969067 644150 A6NGB9 ABBA01056804;ABBA01056805;ABBA01056806;AC004912;AK094250;AMYH02015447;AMYH02015448;AMYH02015449;AW105171;BX107905;CH471073;NM_001080529;XM_005249822 A6NGB9;AAI56552;EAW93924;NP_001073998;XP_005249879 Hs.380698 1651933;1654084;1684610;1711856;1767363;2127903;5492025 D7S2044E;G49460;GDB:1317444;RH36247;RH41875;RH92582;ha2063 CR16;FLJ36931 Corticosteroids and regional expression protein 16 homolog;OTTHUMP00000202318;OTTHUMP00000202319;WAS/WASL-interacting protein family member 3 protein-coding ENSG00000122574 HGNC:22004 612432 VALIDATED 1319069 WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. The function of the protein has not been determined. Two alternatively spliced variants have been described. [provided by RefSeq, Jul 2008] 8 8 8 p11.2 37085612 37192859 - 38127217 38239872 - 38269699 38382354 - 1599847;6480464;6907045;7240710;7242632;8699517 11986249;23200123 10802047;11374904;11549311;12477932;14702039;15489334;15983384;16682010;18029348;19471022;20599755;20670891;20936779;20940404;20972266;21555454;22037555;23011637;23269674;23455924;24051013 54904 E9PKA2;E9PKL3;E9PQ95;H0YE68;Q9BZ95 ABBA01023536;ABBA01023537;ABBA01023538;ABBA01023539;AC087362;AC087623;AF255649;AF318339;AF332468;AF332469;AJ295990;AJ295991;AJ295992;AK000360;AK022560;AK023534;AK025702;AK092166;AK127594;AL832895;AMYH02017827;AMYH02017828;AMYH02017829;AMYH02017830;BC000030;BC007787;BC012059;BC062631;BC073858;BC101717;BC107734;BC113469;BC115006;BC115007;BC143510;CH471080;NG_023292;NM_017778;NM_023034;XM_005273547;XM_005273548 AAG44637;AAH12059;AAH62631;AAI01718;AAI07735;AAI13470;AAI15007;AAI43511;AAK00354;AAK00355;AAL55846;ADZ15361;BAA91110;BAB14099;CAC28350;CAC28351;CAC28352;EAW63319;EAW63320;EAW63321;EAW63322;NP_060248;NP_075447;Q9BZ95;XP_005273604;XP_005273605 Hs.434966;Hs.608111;Hs.655314 1335043;1658027;1704834;1735748;1771775;1772095;2106745;2116759;2132117;2172338 A006Q29;D8S1361E;D8S1791;G17256;SHGC-2825;SHGC-57894;SHGC-64109;SHGC-79887;WHSC1L1__4906;WI-17448 DKFZp667H044;FLJ20353;MGC126766;MGC142029;NSD3;pp14328 OTTHUMP00000228478;OTTHUMP00000228479;OTTHUMP00000228480;OTTHUMP00000228487;WHSC1-like 1 isoform 9 with methyltransferase activity to lysine;WHSC1-like protein 1;Wolf-Hirschhorn syndrome candidate 1-like 1 protein;histone-lysine N-methyltransferase NSD3;nuclear SET domain-containing protein 3;protein whistle;wolf-Hirschhorn syndrome candidate 1-like protein 1 APPROVED protein-coding ENSG00000147548 HGNC:12767 06155 601626;607083 REVIEWED 69487 WISP1 WNT1 inducible signaling pathway protein 1 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011] 8 8 8 q24.22 130380567 130419496 + 134203282 134243933 + 133191039 133231690 + 1580863;6480464 10716946;11571650;11598131;11751417;11782444;11855747;12477932;12529380;12717393;12805222;15489334;15650268;16421571;17353931;17381509;17406949;17579708;17593496;17657846;18006828;18029348;18404666;18701807;19069651;19180479;19238344;19240061;19282865;19287097;19339243;19453261;19926868;20010302;20074638;20372786;20379614;20403915;20506641;20628624;20677014;20684029;21109017;21321938;21453685;21498727;21516124;22778029;22873724;23300278;23313051;23316072;23612905;23977121;9843955 8840 E5RG88;O95388 AB034725;ABBA01014197;ABBA01014198;ABBA01014199;AF100779;AF192304;AF223404;AI347990;AK027294;AK293031;AK301508;AK315822;AMYH02018811;AMYH02018812;AW291472;AY196486;AY196487;AY196488;BC074840;BC074841;BX476382;CH471060;DN997366;EF025923;HG501717;KC877346;KC877347;KC877349;KC877350;KC877352;KC877353;KC877371;NG_029529;NM_001204869;NM_001204870;NM_003882;NM_080838;NR_037944;XM_006716680 AAC96321;AAF35350;AAH74840;AAH74841;AAP43924;AAP43925;AAP43926;ABK13678;BAB17849;BAF85720;BAF98713;BAG63017;EAW92162;EAW92163;NP_001191798;NP_001191799;NP_003873;NP_543028;O95388;XP_006716743 Hs.492974 1690430;1698652 RH102883;RH76344 CCN4;CTC-458A3.8;FLJ14388;WISP-1;WISP1c;WISP1i;WISP1tc CCN family member 4;OTTHUMP00000226716;OTTHUMP00000226718;OTTHUMP00000226719;OTTHUMP00000226720;WNT1 induced secreted protein 1;WNT1-inducible-signaling pathway protein 1;Wnt-1 inducible signaling pathway protein 1;wnt-1 signaling pathway protein 1;wnt-1-induced secreted protein APPROVED protein-coding HGNC:12769 16019 603398 REVIEWED 1351496 WISP2 WNT1 inducible signaling pathway protein 2 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40052537 40065103 + 43343493 43356453 + 44714993 44727811 + 1580863;6480464 10358067;11780052;11855747;12056810;12477932;12659671;12975309;14767469;14981145;15340161;15489334;15798095;16038875;16525711;16939222;17383817;17406949;18070926;18559502;18794149;18976975;19453261;20010302;20372786;21262769;22020939;22616691;23251661;23359679;23893926;24276150;24451367;9843955 8839 O76076 ABBA01052650;ABBA01052651;AF074604;AF083500;AF100780;AK129660;AK313853;AL139352;AMYH02037138;AY358915;BC017782;BC058074;BC064379;CH471077;NM_003881;XM_005260603 AAC26794;AAC70350;AAC96322;AAH17782;AAH58074;AAH64379;AAQ89274;BAC85210;BAG36581;EAW75902;EAW75903;NP_003872;O76076;XP_005260660 Hs.592145 CCN5;CT58;CTGF-L;WISP-2 CCN family member 5;OTTHUMP00000031770;OTTHUMP00000063227;WNT1-inducible-signaling pathway protein 2;connective tissue growth factor-like protein;connective tissue growth factor-related protein 58;wnt-1 signaling pathway protein 2 APPROVED protein-coding ENSG00000064205 HGNC:12770 16020 603399 REVIEWED 1343607 WMS Weill-Marchesani syndrome 8914744 HGNC:12772 1607009 WIZ widely interspaced zinc finger motifs ENCODES a protein that exhibits metal ion binding (inferred); SET domain binding (inferred); INVOLVED IN positive regulation of nuclear cell cycle DNA replication; protein heterotrimerization; protein stabilization; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; nucleus; INTERACTS WITH coumestrol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); cadmium dichloride (ortholog) 19 19 19 p13.1 15427962 15457580 - 15532318 15560767 - 15421507 15449956 - 6480464;8554872 12226707;12477932;14702039;16702210;17967884;19056867;19505873;20562864;21098080;21139048;21258344;21549307;21693764;21890473;21900206;21963094;21987572;22505724;22939629;23000965;23022380;23455924;24163370;24457600;24654937;24657165;24816145;25015289;9790763;9795207 58525 B3KVH1;M0QXA7;M0QXF8;O95785 ABBA01051112;ABBA01051113;ABBA01051114;AC006128;AC007059;AC011492;AK027615;AK091183;AK122890;AK131404;AL390184;AMYH02035657;AMYH02035658;AMYH02035659;BC002329;BC007551;BC014220;BC048293;BC062360;BC098445;BC136641;BC144332;CH471106;NM_021241;XM_005260004;XM_005260005;XM_005260006;XM_005260007;XM_005260008;XM_005260009;XM_005260010;XM_005260011;XM_005260012;XM_006722828 AAC97985;AAD19817;AAD19818;AAH02329;AAH07551;AAH62360;AAH98445;AAI36642;AAI44333;BAB55234;BAD18551;BAG52301;BAG53783;CAB99102;EAW84480;NP_067064;O95785;XP_005260061;XP_005260062;XP_005260063;XP_005260064;XP_005260065;XP_005260066;XP_005260067;XP_005260068;XP_005260069;XP_006722891 Hs.442138 1669456;1753805;1768243;1791286;2121205 MARC_9986-9987:996688740:1;SHGC-108020;SHGC-35181;STS-Z41441;WI-19262 ZNF803 WIZ zinc finger;widely-interspaced zinc finger motifs;widely-interspaced zinc finger-containing protein;zinc finger protein 803 protein-coding ENSG00000011451 HGNC:30917 VALIDATED 1345324 WISP3 WNT1 inducible signaling pathway protein 3 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q21 113116562 113132191 + 112375278 112390889 + 112025707 112069686 + 1599850;1580863;6480464;7240710;8554872;8699517 10471507 12082632;12105881;12477932;12975309;14574404;15300987;15517620;15601861;15650268;16457688;16480948;17286957;17363178;17406949;17483925;18321996;19064006;19453261;20014943;20372786;20395207;20403915;21159247;21391218;21525039;21528827;21628462;21921419;21993478;22294415;22685593;22791401;22805309;22987568;23226100;23424195;7687569;9843955 8838 F8WC24;G3V0J1;I6L968;O95389;O95958;Q3T1A9 AB075040;ABBA01026080;AF100781;AF143679;AL512299;AMYH02014311;AY358349;AY358350;BC012028;BC035250;BC102031;BC105940;BC105941;BG928545;CH471051;NG_011748;NM_003880;NM_198239;NR_125353;NR_125354;XM_005267195;XM_006715590;Z99289 AAC96323;AAD31517;AAH12028;AAI02032;AAI05941;AAI05942;AAQ88715;AAQ88716;BAB78569;EAW48273;EAW48274;EAW48275;EAW48276;EAW48277;NP_003871;NP_937882;O95389;XP_005267252;XP_006715653 Hs.558428 1698600;2107771;2156489 AL022440;RH102853;WISP3_7927 CCN6;LIBC;MGC125987;MGC125988;MGC125989;PPAC;PPD;WISP-3 CCN family member 6;OTTHUMP00000017037;OTTHUMP00000203189;OTTHUMP00000203320;WNT1-inducible-signaling pathway protein 3 APPROVED protein-coding ENSG00000112761 HGNC:12771 04550 208230;603400 REVIEWED 1606810 WIPI2 WD repeat domain, phosphoinositide interacting 2 WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008] 7 7 7 p22.1 5188959 5232605 + 5229835 5273486 + 5190204 5233855 + 6480464 10810093;11076863;11230166;11256614;12477932;12853948;14702039;15489334;15489336;15602573;16169070;16381901;18029348;20505359;20562859;21044950;21139048;21145461;21564513;21906983;21963094;22505724;22939629;24250222;9847074 26100 Q9Y4P8 ABBA01039444;AC093376;AF151808;AI074985;AK023041;AK024279;AK124974;AK125007;AK315468;AL080155;AMYH02015131;AMYH02015132;AY691425;AY691426;BC004116;BC007596;BC016912;BC021012;BC021068;BC021200;BI561383;BX537624;CH471144;CR533530;NM_001033518;NM_001033519;NM_001033520;NM_001278299;NM_015610;NM_016003;XM_006715685 AAD34045;AAH04116;AAH07596;AAH21200;AAQ96865;AAQ96866;AAQ96867;AAV80761;AAV80762;BAC86012;BAG51152;BAG51284;CAB45746;CAG38561;CAH56163;CAL37779;CAL38494;CAL38504;EAW87324;EAW87325;EAW87326;EAW87327;EAW87328;NP_001028690;NP_001028691;NP_001028692;NP_001265228;NP_056425;NP_057087;Q9Y4P8;XP_006715748 Hs.122363 1687614;1775535;1777358;2128234;2145270;2181624 A003P36;RH12207;RH45406;RH93080;WI-17069;WI-20761 ATG18B;Atg21;CGI-50;DKFZp434J154;DKFZp686P02188;FLJ12979;FLJ14217;FLJ42984;WIPI-2 OTTHUMP00000149993;OTTHUMP00000200571;OTTHUMP00000200572;OTTHUMP00000200587;OTTHUMP00000225005;WD repeat domain phosphoinositide-interacting protein 2;WD40 repeat protein interacting with phosphoinositides 2;WIPI49-like protein 2 APPROVED protein-coding ENSG00000157954 HGNC:32225 15679 609225 VALIDATED 1349205 WNK2 WNK lysine deficient protein kinase 2 The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostasis, cell signaling survival, and proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 9 9 9 q22.3 66388916 66525074 + 95946437 96082854 + 93184155 93320572 + 6480464;8554872 11214970;11280764;11498583;11571656;12477932;14702039;15489334;16713569;17474147;17578925;17667937;18593598;18768590;19001526;19724895;19851296;20198315;20379614;20525693;20936779;21733846;21988832;23035050;23387299;23797875;23838290;23912455;9610721 65268 A6PVV2;E9PCD1;F8W9F9;H0Y493;H0Y7J9;H0Y7R3;H0Y7T5;Q9Y3S1 AB044546;AB051547;ABBA01018604;ABBA01018605;ABBA01018606;ABBA01018607;AF039702;AJ242724;AK000694;AK093910;AK096968;AK124314;AK310390;AL354991;AL390760;AL583839;AMYH02021234;AMYH02021235;AMYH02021236;BC037965;CH471089;HY151846;NM_001282394;NM_006648;XM_005252137;XM_005252138;XM_005252139;XM_005252140;XM_005252141;XM_005252142;XM_005252143;XM_005252144;XM_006717237;XM_006717238;XM_006717239;XM_006717240 AAC18051;AAH37965;BAB18648;BAB21851;CAB44308;EAW62857;EAW62858;EAW62859;EAW62860;NP_001269323;NP_006639;Q9Y3S1;XP_005252194;XP_005252195;XP_005252196;XP_005252197;XP_005252198;XP_005252199;XP_005252200;XP_005252201;XP_006717300;XP_006717301;XP_006717302;XP_006717303 Hs.654856 1334625;1643634;1693692;1768531;2116753;2169832 D9S1803;IB543;RH66306;SGC30759;SHGC-58613;WI-15809 KIAA1760;NY-CO-43;P/OKcl.13;PRKWNK2;SDCCAG43 OTTHUMP00000196927;OTTHUMP00000196928;OTTHUMP00000196929;antigen NY-CO-43;mitogen-activated protein kinase kinase kinase;protein kinase lysine-deficient 2;protein kinase with no lysine 2;protein kinase, lysine deficient 2;serine/threonine-protein kinase WNK2;serologically defined colon cancer antigen 43 APPROVED protein-coding ENSG00000165238 HGNC:14542 06951 606249 REVIEWED 1346670 WNK3 WNK lysine deficient protein kinase 3 This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X X p11.22 58050484 58215673 - 54219256 54384438 - 54192823 54358005 - 6480464;8554872 10997877;11498583;11571656;14702039;15194194;15772651;16275913;16501604;17673510;17961084;17975670;18498374;18701621;18768590;19470686;19636250;19913121;20094755;20525693;20628086;20819979;21139048;21613606;21813709;22864523;23387299;23482566;23838290;24250222;24641320;24920754;7757816 65267 B1AQN8;Q9BYP7 AB046786;ABBA01069642;ABBA01069643;ABBA01069644;ABBA01069645;ABBA01069646;ABBA01069647;ABBA01069648;ABBA01069649;ABBA01069650;ABBA01069651;ABBA01069652;ABBA01069653;ABBA01069654;ABBA01069655;ABBA01069656;ABBA01069657;ABBA01069658;ABBA01069659;ABBA01069660;ABBA01069661;ABBA01069662;ABBA01069663;AJ409088;AK054999;AK124653;AL049793;AL591766;AMYH02039486;AMYH02039487;AMYH02039488;AY082340;AY352048;CH471154;KF459111;NG_021259;NM_001002838;NM_020922;R44257;XM_006724593;XM_006724594;Z44479;Z84469 AAI56470;AAL99253;AAR89465;BAB13392;CAC32455;EAW93175;EAW93176;NP_001002838;NP_065973;Q9BYP7;XP_006724656;XP_006724657 Hs.92423 1645510;1675403;1682179;1691042;1702238;1787210;1787262;2121879;2145999;2166902;2180927;2182482;5024541;5037552 D1S3688;D8S2279;DXS1013E;DXS7533;DXS7567;DXS8325;RH26059;RH98462;RH99195;SGC31719;SHGC-106582;SHGC-144031;STS-M78294;X99131 FLJ30437;FLJ42662;KIAA1566;PRKWNK3 OTTHUMP00000023369;OTTHUMP00000023370;protein kinase with no lysine 3;serine/threonine-protein kinase WNK3 APPROVED protein-coding ENSG00000196632 HGNC:14543 02289 300358 REVIEWED 1315958 WNT10A wingless-type MMTV integration site family, member 10A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is strongly expressed in the cell lines of promyelocytic leukemia and Burkitt's lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. [provided by RefSeq, Jul 2008] 2 2 2 q35 213515015 213528391 + 219745255 219758651 + 218880533 218893929 + 1580863;2313743;2300202;2300201;2301993;6480464;6907045;7240710;8554872;8699517 15789446;17286598;18765832 11350055;12477932;14702039;15040835;15489334;16953426;17847007;18787224;19453261;19471313;19559398;19863181;19896111;20585627;20979233;21143469;21203463;21279306;21547848;22581971;23094073;23135473;23167694;23358095;23401279;24043634;24311251;24312213;24449199;24554542 80326 H7BZB8;Q9GZT5 AB059569;ABBA01023855;ABBA01023856;AC073128;AF315943;AK024363;AK315081;AMYH02005810;AY009400;BC003544;BC034352;BC040026;BC052234;CH471063;CQ970134;NG_012179;NM_025216 AAG38660;AAG45153;AAH03544;AAH34352;AAH52234;AAY24175;ACE86419;BAB14898;BAB55602;BAG37548;CAI38654;EAW70659;NP_079492;Q9GZT5 Hs.121540 1337443 D2S2250 FLJ14301;OODD;SSPS;STHAG4 OTTHUMP00000164103;protein Wnt-10a APPROVED protein-coding ENSG00000135925 HGNC:13829 16207 150400;224750;257980;606268 REVIEWED 1353270 WNK4 WNK lysine deficient protein kinase 4 This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009] 17 17 17 q21-q22 37588637 37605071 + 40932632 40949084 + 42780614 42797066 + 1580828;1580830;629611;2298790;6480464;8699517;7240710;8554872 11498583;12642508;15110905;18547946 11571656;12107410;12477932;12515852;12719438;12905707;14563843;14616768;14702039;14769928;14967840;15070779;15292344;15309683;15824464;15930150;16147992;16403833;16688122;16820787;17018846;17360471;17634397;17673510;17721439;18096992;18312414;18703016;18755144;18793746;19016006;19330605;19340547;19401467;19706464;19875813;20513278;20525693;20561597;20618440;20931534;20943203;21118716;21187068;21196779;21236712;21613417;21704025;21807898;22073419;22939624;23054253;23387299;23453970;23576762;23594824;23665031;23838290;23885063;23962426;24641320;8889548 65266 K7ENT7;K7EPB3;Q96J92 ABBA01006407;ABBA01006408;AC016889;AC100793;AF390018;AJ309861;AJ316534;AK096003;AK096052;AK301963;AMYH02033437;BC136664;BC144356;BM683764;CA388932;CH471152;EU332870;NG_016227;NM_032387;XM_005257595;XM_005257596;XM_005257597;XM_005257598;XM_006722020;XM_006722021;XM_006722022 AAI36665;AAK91995;ABY87559;BAC04669;BAC04688;BAG63376;CAC32991;CAC48387;EAW60881;EAW60882;NP_115763;Q96J92;XP_005257652;XP_005257653;XP_005257654;XP_005257655;XP_006722083;XP_006722084;XP_006722085 Hs.105448 1685133;1733374;2147379;2169565;2171562;5015621;5022200;5022651 D11S2921;D11S3732;D17S1186;D7S2800;L18426;RH45445;RH47257;RH66580 PHA2B;PRKWNK4 protein kinase lysine-deficient 4;protein kinase with no lysine 4;serine/threonine-protein kinase WNK4 APPROVED protein-coding ENSG00000126562 HGNC:14544 03505 601844;614491 REVIEWED 1344355 WNT1 wingless-type MMTV integration site family, member 1 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008] 12 12 12 q13 48167028 48171188 + 49372236 49376396 + 48978453 48982613 + 1580863;2313743;2298848;2298804;2298863;2301993;6480464;6907045;8699517;7240710;8554872 10918574;18765832;8065359;9419423 10347172;10511339;10557084;10644691;10654605;10866835;11029007;11336703;11350055;11448771;11782388;11793365;11832495;12014624;12154096;12209999;12477932;14644163;14960582;15149841;15194563;15454084;15489334;15580286;15592430;15824740;15841445;15913453;16194878;16329837;16427602;16474850;16495219;16501043;16565090;16756720;16760136;16930536;17035233;17072303;17143299;17289346;17306035;17875805;17947472;17982423;18056036;18059186;18097596;18187620;18218837;18297060;18461473;18469861;18562274;18593917;18636547;18676739;18705344;18762249;18769115;18769117;18790633;18824543;18838960;18844223;18936100;19061838;19148501;19174556;19349579;19398721;19401692;19448422;19453261;19473496;19628668;19693690;19711366;19729480;19734317;19756656;19778454;19781444;19847889;19885602;19924227;19956716;19956832;20334650;20491588;20564229;20664938;20809334;20865400;21044957;21259057;21317455;21321190;21336184;21344486;21505183;21678109;21680704;21781302;21851818;21858154;21971039;2202907;22117039;22123293;22139084;22270359;22351518;22388478;22391424;22392999;22406377;22494971;22546285;22696217;22815884;22823957;22859293;22954590;23134367;23152495;23152614;23284750;23379509;23434763;23499309;23499310;23551536;23605563;23613467;23656646;23851184;23913826;24002087;24067880;24305876;24374807;24416131;24481453;24659666;2534596;2998762;3281802;3329717;9147651 7471 P04628 ABBA01031498;AC073610;AMYH02026429;BC074798;BC074799;BT019429;CH471111;CQ970104;NG_033141;NM_005430;X03072 AAH74798;AAH74799;AAV38236;CAA26874;CAI38639;EAW58030;NP_005421;P04628 Hs.248164 5492096 Wnt1 BMND16;INT1;OI15 OTTHUMP00000243705;proto-oncogene Int-1 homolog;proto-oncogene Wnt-1;wingless-type MMTV integration site family, member 1 (oncogene INT1) APPROVED protein-coding HGNC:12774 01276 164820;615220;615221 REVIEWED 1605334 WLS wntless Wnt ligand secretion mediator ENCODES a protein that exhibits signal transducer activity (ortholog); INVOLVED IN positive regulation of canonical Wnt signaling pathway; positive regulation of I-kappaB kinase/NF-kappaB signaling (ortholog); PARTICIPATES IN Wnt signaling, canonical pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasmic vesicle (inferred); early endosome membrane (inferred); Golgi apparatus (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',5-triiodo-L-thyronine 1 1 1 p31.3 66854843 66988904 - 68564142 68698284 - 68098459 68232601 - 6480464;7365109;8554872 23439944 12477932;12761501;12975309;14702039;15489334;16303743;16344560;16678095;16710414;17804805;18781797;19801982;20200978;20214800;20548944;20652957;21890473;21906983;21963094;21987572;22027831;22147553;22504420;22837378;23000965;23129487;23188710;23566366;23648065;23918954;24162018;24249740;24768165 79971 E9PJW4;E9PKJ0;E9PM23;E9PM62;E9PQK1;H0YCG9;H0YDL2;Q5T9L3;Q7Z430 AB097018;ABBA01074511;AI217373;AK026744;AK074583;AK074984;AK301613;AK309779;AL157407;AL513284;AMYH02001210;AMYH02001211;AMYH02001212;AMYH02001213;AMYH02001214;AMYH02001215;AW137622;AY359035;BC007211;BC110826;BC137109;BC137113;BG701224;BX537492;BX538320;BX648748;CA438784;CH471059;CQ782961;DA753300;DB478499;DQ323735;NM_001002292;NM_001193334;NM_024911 AAH07211;AAI10827;AAI37110;AAI37114;AAQ89394;ABD58927;BAB15540;BAC11072;BAC11333;BAC77371;BAH13523;CAD98094;CAF86190;EAX06479;EAX06480;EAX06481;NP_001002292;NP_001180263;NP_079187;Q5T9L3 Hs.647659 1649182;1652881;1688761;1718147;1722449;2133696;2146116;2146991;2146993;2148825;2181494;2185904 A004O04;A006C26;A006M39;D1S1583;G09848;G20702;G60301;HSC2OB072;RH122841;RH64518;RH68355;RH92980 C1orf139;DKFZp686I0788;EVI;FLJ23091;GPR177;MGC131760;MGC14878;MRP;mig-14 G protein-coupled receptor 177;OTTHUMP00000010725;OTTHUMP00000010726;OTTHUMP00000010727;integral membrane protein GPR177;protein evenness interrupted homolog;protein wntless homolog;putative NF-kappa-B-activating protein 373;putative NFkB activating protein 373 APPROVED protein-coding ENSG00000116729 HGNC:30238 10980 611514 VALIDATED 1345805 WNT16 wingless-type MMTV integration site family, member 16 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008] 7 7 7 q31 115774608 115790350 + 120965421 120981158 + 121325367 121341104 + 1580863;2313743;2301993;6480464;6907045 18765832 10500199;11095990;12477932;12853948;15489334;15756456;16007226;16147992;16258938;16769578;16808837;17200136;19101069;19863181;19951988;22504420;22792070;22792071;22863786;23074152;23417354;23617586;24082114;24185276;24249740;24430505;8167409 51384 E9PH60;Q9UBV4 ABBA01057760;AC006364;AF152584;AF169963;AMYH02016666;BC104919;BC104945;CH236947;CH471070;CQ970140;EU190890;NG_029242;NM_016087;NM_057168 AAD38052;AAD49351;AAI04920;AAI04946;AAQ96872;ABW69190;CAI38657;EAL24346;EAL24347;EAW83556;EAW83557;NP_057171;NP_476509;Q9UBV4 Hs.272375 1342295;1708546;2109001;7183812;7185613 D7S480;SHGC-85052;WNT16_8043 OTTHUMP00000211164;OTTHUMP00000211165;protein Wnt-16;wingless-type MMTV integration site family member 16b APPROVED protein-coding ENSG00000002745 HGNC:16267 05882 606267 REVIEWED 1312744 WNT10B wingless-type MMTV integration site family, member 10B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008] 12 12 12 q13 48153932 48160449 - 49359123 49365641 - 48965340 48971858 - 1580863;2313743;2300029;2301993;2326237;6480464;6907045;7240710;8554872;8699517 16477437;17578883;18765832 10937998;11350055;11713588;12437293;12477932;15135146;15489334;16344560;17761539;18465804;18515319;19016593;19056892;19075223;19453261;19458884;19913121;20579865;20628086;20628624;20635353;21321991;21554266;22041457;22118674;22189080;22890324;23104151;23135473;23307470;23325361;23900840;24211389;8167409;9121776;9284937;9441749;9787155 7480 B5MCC8;C9J3H3;C9JCI2;O00744 AB070724;ABBA01031497;AC073610;AF028700;AK312906;AMYH02026429;BC096353;BC096354;BC096355;BC096356;CH471111;CQ970136;DA530656;NG_023347;NM_003394;U81787;X97057 AAB51685;AAC39549;AAH96353;AAH96354;AAH96355;AAH96356;BAB72181;BAG35752;CAA65769;CAI38655;EAW58028;EAW58029;NP_003385;O00744 Hs.91985 1680178;1847041;2107773;5093228;5492108 A009J45;G32596;RH91791;WNT10B_7903;Wnt10b SHFM6;WNT-12 OTTHUMP00000198403;OTTHUMP00000198404;OTTHUMP00000198405;WNT-10B protein;protein Wnt-10b APPROVED protein-coding ENSG00000169884 HGNC:12775 03548 225300;601906 REVIEWED 1343905 WNK1 WNK lysine deficient protein kinase 1 This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010] 12 12 12 p13.3 2468382 2626915 + 861759 1020618 + 752593 911452 + 1580828;1580829;2298790;2298532;6480464;7240710;8554872 11498583;16301342;16376520;18547946 10660600;10869238;11571656;12168954;12374799;12477932;12748276;14611643;14645531;14681216;15060842;15203218;15231747;15324660;15350218;15455397;15489334;15561718;15583131;15686619;15883153;15911806;16006511;16172412;16204408;16263722;16344560;16403833;16428287;16534117;16541075;16669787;16713569;16820787;16832045;16949040;16964243;17081983;17190791;17289029;17380208;17392271;17456004;17456239;17673510;17957199;18187620;18521183;18550644;18591455;18809789;18955660;18976975;19068477;19228968;19244242;19347040;19361385;19363035;19389623;19609280;19651702;19739668;19850743;19913121;20379614;20410525;20525693;20628086;20936779;20937822;21089229;21139048;21220314;21242704;21317537;21355052;21520334;21530900;21625937;21704025;21988832;22073419;22080857;22119528;22623531;22678362;22701532;22863883;22934535;22989884;23059770;23383273;23387299;23444366;23576762;23797875;23838290;23891004;24255178;24555568;24561123;24641320;24816145;2507249;4351257;8889548;8889549;9205841 65125 A5D8Z4;F5GWT4;F5H2M7;F6UYG0;H0YF81;H0YFF1;H0YFK5;H0YFP5;H0YH68;H0YH79;I3L251;Q9H4A3 AB002342;ABBA01048835;ABBA01048836;ABBA01048837;ABBA01048838;ABBA01048839;ABBA01048840;AC004765;AC004803;AF061944;AI074334;AJ296290;AMYH02025857;AMYH02025858;AY231477;BC013629;BC021121;BC035146;BC044600;BC071959;BC094862;BC130467;BC130469;BC141881;BJ997509;BK004108;BM716053;BX644268;CD629562;CH471116;DA720959;DQ925669;DQ925671;DQ925672;FJ515833;JQ358908;N57692;NG_007984;NM_001184985;NM_014823;NM_018979;NM_213655;XM_005253734;XM_005253735;XM_005253736;XM_005253737;XM_005253738;XM_005253739;XM_005253740;XM_005253741;XM_005253743;XM_006718998;XM_006718999;XM_006719000;XM_006719001;XM_006719002;XM_006719003;XM_006719004 AAF31483;AAH13629;AAI30468;AAI30470;AAI41882;AAI72444;AAO46160;ABL59896;ABL59898;ABL59899;ACS13726;AEY99342;BAA20802;CAC15059;DAA04494;EAW88951;EAW88952;EAW88953;EAW88954;EAW88955;EAW88956;EAW88957;EAW88958;NP_001171914;NP_055638;NP_061852;NP_998820;Q9H4A3;XP_005253791;XP_005253792;XP_005253793;XP_005253794;XP_005253795;XP_005253796;XP_005253797;XP_005253798;XP_005253800;XP_006719061;XP_006719062;XP_006719063;XP_006719064;XP_006719065;XP_006719066;XP_006719067 Hs.744906 1341180;1341742;1643606;1651271;1651479;1667304;1671583;1676172;1683088;1693852;1733576;1778107;1782782;2116115;2116479;2117005;2123754;2153659;2156270;2166025;2167289;2167698;2168907;5093752;5493591;5493849;7185239 A009W04;AFM206ze5;D12S1397;D12S1913;D12S2148;D12S888;D12S91;D12S94;G32902;G41015;G41016;G41230;G41780;G41789;G42615;RH11028;RH68501;RH78846;RH80475;SGC33532;SGC34797;SHGC-36515;SHGC-70148;STS-N22269;UniSTS:487339;UniSTS:495281 HSAN2;HSN2;KDP;KIAA0344;MGC163339;MGC163341;PHA2C;PPP1R167;PRKWNK1;PSK;p65 OTTHUMP00000115370;OTTHUMP00000237889;WNK lysine deficient protein kinase 1 isoform;erythrocyte 65 kDa protein;prostate-derived sterile 20-like kinase;protein kinase lysine-deficient 1;protein kinase with no lysine 1;protein kinase, lysine deficient 1;serine/threonine-protein kinase WNK1 APPROVED protein-coding ENSG00000060237 HGNC:14540 05570 201300;605232;614492 REVIEWED 1344120 WNT3 wingless-type MMTV integration site family, member 3 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008] 17 17 17 q21 41291175 41345584 - 44839872 44896126 - 46762506 46818760 - 1599852;1580863;2313743;2298804;2298802;2298848;2291875;2301993;6480464;6907045;7240710;8554872;8699517 10918574;11604997;14872406;18765832;9099960;9419423 10431240;10557084;11076863;11788904;12477932;15293277;15489334;15588944;16890161;18044981;18309246;18313787;18413325;1846319;18563180;18606139;18787224;19365403;19421142;19724895;19851296;19863181;20190752;20198315;20301453;20672350;20709709;20890934;21314951;21789800;21812969;22070884;22112025;22288914;22451204;23071104;24162018;24303070;24344732;8167409;8168088;8244403 7473 P56703 AB067628;ABBA01041103;ABBA01041104;ABBA01041105;AC004098;AC019319;AC217780;AC243685;AC243906;AY009397;BC112116;BC112118;BC114219;BF515681;CH471231;CQ970110;CX872929;DB462855;NG_008084;NM_030753 AAG38657;AAI11601;AAI12117;AAI12119;AAI14220;BAB70502;CAI38642;EAW57705;NP_110380;P56703 Hs.445884;Hs.745220 1338925;1649433;1729859;1742305;1770487;2185256;2218148;5021951;7185579 D17S728;D17S791;G17967;G17970;GDB:196138;WI-10450;WNT3_2862;Wnt3 INT4;MGC131950;MGC138321;MGC138323 WNT-3 proto-oncogene protein;proto-oncogene Int-4 homolog;proto-oncogene Wnt-3 APPROVED protein-coding ENSG00000108379 HGNC:12782 01318 165330;273395 REVIEWED 1344477 WNT11 wingless-type MMTV integration site family, member 11 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq, Jul 2008] 11 11 11 q13.5 73205187 73225391 - 75897370 75921803 - 76186326 76210759 - 1580863;2299946;2313743;1304321;2299947;634517;2301993;6480464;6907045;8554872 11712081;12072409;15084607;15520198;18765832 12477932;15489334;15543138;15701629;15708567;16303743;17967789;18413325;18572162;19265664;19453261;19847889;20062060;20103596;20219091;20379614;20819778;20870744;20890934;21139048;21242973;21280163;21903761;22161723;23549873;24082114;8167409;9757009 7481 O96014 AB070218;ABBA01017454;AK075540;AK313570;AMYH02025127;AP000785;BC074790;BC074791;BC113386;BC113388;BT019492;CH471076;CQ970138;JF800675;JQ715612;JQ715613;NM_004626;XM_005274231;Y12692;Y13843 AAH74790;AAH74791;AAI13387;AAI13389;AAV38299;AEG64815;AGA11741;AGA11742;BAB72099;BAC11683;BAG36343;CAA73223;CAA74159;CAI38656;EAW74988;EAW74989;NP_004617;O96014;XP_005274288 Hs.108219 1854321;2161767;2162575;2218144;5096714 D11S2457;SGC44542;SHGC-36303;STS-W81325;WNT11_3888 HWNT11;MGC141946;MGC141948 OTTHUMP00000229154;protein Wnt-11 APPROVED protein-coding ENSG00000085741 HGNC:12776 04741 603699 REVIEWED 733303 WNT2B wingless-type MMTV integration site family, member 2B This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation and are characterized by a WNT-core domain. This gene may play a role in human development as well as carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 1 1 1 p13 111240572 111294438 + 113010040 113063910 + 112467418 112521288 + 1580863;2313743;2298800;634517;2301993;6480464;6907045;8554872 12072409;16822086;18765832 10944466;11712082;11741304;11746496;12477932;14702039;15135146;15164427;15754012;16258938;16273293;16407296;17649721;17848411;18155664;18606951;19360354;19650845;19913121;20628086;20819778;20844743;22145905;22635028;23583221;23785285;8167409;8761309;9441749;9787155 7482 Q5TEH8;Q93097 AB045116;AB045117;ABBA01068406;ABBA01068407;ABBA01068408;ABBA01068409;AF028701;AK127449;AK307185;AK312696;AL109932;AL354760;AMYH02001738;BC141825;CH471122;CQ970108;NM_001291880;NM_004185;NM_024494 AAC39552;AAI41826;BAB11984;BAB11985;BAG35575;CAI38641;EAW56519;NP_001278809;NP_004176;NP_078613;Q93097 Hs.258575 1341643;1663983;1679557;1698406;2137267;2180475;2218146;5094080 D1S2746;G34961;RH102745;RH67266;SHGC-75324;SHGC-75329;SHGC-75345;WNT2B_3889 WNT13;XWNT2 OTTHUMP00000012856;OTTHUMP00000012857;OTTHUMP00000012858;XWNT2, Xenopus, homolog of;protein Wnt-2b;wingless-type MMTV integration site family, member 13 APPROVED protein-coding HGNC:12781 03574 601968 REVIEWED 6481355 WNT5A-AS1 WNT5A antisense RNA 1 100874008 AC121764 APPROVED ncrna HGNC:40616 733867 WNT4 wingless-type MMTV integration site family, member 4 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008] 1 1 1 p36.23-p35.1 20766732 20792452 - 22443798 22470474 - 22117305 22143026 - 1599857;1580863;2291878;2313743;2291875;2301993;727218;6480464;6907045;7240710;8554872;8699517 12707392;15317892;18765832;8168088;9099960 10654605;10866835;11283799;11287180;12142017;12477932;12768078;12841867;12844346;12949260;12975309;15040835;15149334;15265686;15312687;15389636;15489334;15589122;15717329;16343436;16368682;16442268;16710414;16959810;16981135;17720811;17848411;17976063;18001722;18179883;18182450;18281035;18553255;19034702;19171330;19421142;19453261;19849868;19863181;19962424;20060343;20161747;20301714;20502698;20601957;20634891;20709709;21280163;21377155;21624127;21732829;21832049;21988832;22041457;22503279;22504420;2279700;22951804;23044875;23104006;23142796;23142810;23251661;23463699;23472165;23520208;24130753;24200887;24274766;8167409;9853965;9989404 54361 B1AJZ6;H0Y663;P56705 AA984007;AB061675;ABBA01059842;AF086347;AF316543;AF335591;AK296058;AL031281;AL445253;AMYH02000468;AY009398;AY358947;BC007386;BC057781;BT020125;CH471134;CQ970114;NG_008974;NM_030761;XM_005245897 AAG38658;AAH57781;AAK25765;AAK51699;AAQ89306;AAV38928;ADZ15971;BAC23080;BAG58821;CAI38644;EAW95010;NP_110388;P56705;XP_005245954 Hs.25766 1656665;1661159;1733026;1752503;1798318 D1S1386;SHGC-106323;SHGC-74348;SHGC-74353;WNT4_1928 WNT-4 OTTHUMP00000002937;SERKAL APPROVED protein-coding ENSG00000162552 HGNC:12783 04601 158330;603490;611812 REVIEWED 1346792 WNT5B wingless-type MMTV integration site family, member 5B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 12 12 12 p13.3 3334306 3364399 + 1683823 1756379 + 1617056 1647213 + 1580863;2313743;2298863;2298848;2298808;2301993;6480464;6907045;8554872 15972578;18765832;8065359;9419423 10866835;11445850;12165812;12477932;15135146;15386214;15489334;15731909;16189514;16258938;18555673;19056867;19453261;19486338;19577541;19863181;21766608;21963094;21980498;24040439;24220306;24344732;24399733;8167409 81029 F5GYM2;F5H034;F5H364;F5H7Q6;Q9H1J7 AB060966;AB209228;ABBA01048821;ABBA01048822;AC005182;AK290430;AMYH02025873;AMYH02025874;AY009399;BC001749;CH471116;CQ970118;NM_030775;NM_032642;XM_005253792;XM_006719019 AAG38659;AAH01749;ABM82782;ABM85971;BAB62039;BAD92465;BAF83119;CAI38646;EAW88925;EAW88926;EAW88927;NP_110402;NP_116031;Q9H1J7;XP_005253849;XP_006719082 Hs.306051 1848698;2218150 D12S2103;WNT5B_3683 MGC2648 OTTHUMP00000115433;OTTHUMP00000237811;OTTHUMP00000237812;OTTHUMP00000237813;WNT-5B protein;protein Wnt-5b APPROVED protein-coding ENSG00000111186 HGNC:16265 05899 606361 REVIEWED 1312067 WNT6 wingless-type MMTV integration site family, member 6 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level. [provided by RefSeq, Jul 2008] 2 2 2 q35 213494308 213508717 + 219724546 219738954 + 218859823 218874232 + 1580863;2313743;2298863;2298848;2298845;2301993;6480464;6907045 18649356;18765832;8065359;9419423 10343101;10866835;11350055;12477932;15489334;16258938;16303743;16953426;17847007;20113781;20634891;21547848;22370641;2279700;8167409;9407023 7475 Q8N2E5;Q9Y6F9 AB059570;ABBA01023856;AC009974;AC073128;AF079522;AF315943;AK075522;AMYH02005810;AY009401;BC004329;BT007456;CB960823;CH471063;CQ970120;KF510782;NM_006522 AAD41674;AAG38661;AAG45154;AAH04329;AAP36124;AAY24174;ABM81696;BAB55603;BAC11668;CAI38647;EAW70658;NP_006513;Q9Y6F9 Hs.29764 2118391 RH70053 OTTHUMP00000164100;protein Wnt-6 APPROVED protein-coding ENSG00000115596 HGNC:12785 05233 604663 REVIEWED 1353257 WNT5A wingless-type MMTV integration site family, member 5A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 3 3 3 p21-p14 55465957 55488272 - 55499743 55521670 - 55465715 55487642 - 1580863;2313743;634517;2291875;2301993;6480464;6484113;6907045;8699517;7240710;8554872 12072409;18765832;9099960 10491302;10557084;11956659;12086864;12165812;12244165;12477932;12482967;12805222;12839624;12841867;12952940;14702039;15040835;15067324;15389636;15588944;15592517;15735754;16169547;16258938;16344560;16569699;16601243;16880514;16914445;16996564;17035633;17227781;17426020;17458904;17463182;17486081;17525119;17546602;17709179;17848411;17937436;17952396;17956663;17967789;17976063;17986384;17992121;18032022;18172252;18174174;18174455;18287027;18413325;18420933;18456733;18462958;18477650;18541964;18615587;18632632;18656562;18703641;18794093;18990694;19048125;19061910;19063862;19074888;19099253;19148501;19171330;19177143;19244247;19251946;19277043;19399181;19453261;19467340;19473452;19492056;19520808;19561643;19582886;19651774;19696445;19760930;19802008;19847889;19849855;19874313;19878652;19910923;19918918;19940551;19946729;19956879;20008136;20032469;20083703;20101234;20376066;20379614;20429785;20454608;20518933;20525402;20554957;20603606;20628624;20634891;20639201;20890934;20955350;21069266;21115903;21165581;21205070;21209903;21270611;21285942;21342370;21344486;21352264;21365928;21431850;21461571;21587258;21672426;21816908;21871017;21918189;21963094;21980498;22039506;22101459;22124122;22128168;22162112;22293903;22384081;22384249;22485170;22493546;22547701;22609948;22655072;22694338;22781592;22825874;23001722;23046419;23054609;23075330;23159080;23178630;23254341;23265959;23266365;23271023;23278988;23342259;23349696;23353182;23359789;23396967;23417837;23462101;23469623;23484019;23539626;23615002;23653377;23660959;23679576;23716599;23764752;23947922;23963164;24091015;24139281;24156409;24185202;24250222;24260410;24293407;24335906;24346691;24399733;24416340;24518599;24658506;24706725;24865425;8167409;8288227;8537388;8889548;9054360;9787155 7474 B3KQX9;C9J8I8;P41221 ABBA01024455;ABBA01024456;AC121764;AI634753;AK021503;AK090582;AK290375;AK290869;AMYH02006843;AU118341;BC064694;BC074783;BF218039;BM728706;BU742635;CH471055;CQ970116;DB224740;EF028086;GN095169;GN368162;L20861;NG_031992;NM_001256105;NM_003392;U39837;XM_006713324 AAA16842;AAH64694;AAH74783;ABK20872;ADZ15627;BAF83064;BAF83558;BAG52191;CAI38645;CAY02596;CAY86018;EAW65310;EAW65311;NP_001243034;NP_003383;P41221;XP_006713387 Hs.643085 1647090;1648540;1689558;1697050;2178128;5120879;5494065 G15856;G35315;RH102004;RH78427;RH80790;SHGC-77018;Wnt5a hWNT5A OTTHUMP00000212837;OTTHUMP00000212861;WNT-5A protein;protein Wnt-5a APPROVED protein-coding ENSG00000114251 HGNC:12784 01293 164975;180700 REVIEWED 1317606 WNT3A wingless-type MMTV integration site family, member 3A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 96% amino acid identity to mouse Wnt3A protein, and 84% to human WNT3 protein, another WNT gene product. This gene is clustered with WNT14 gene, another family member, in chromosome 1q42 region. [provided by RefSeq, Jul 2008] 1 1 1 q42 201384988 201439196 + 228194723 228248972 + 228007022 228061271 + 1580863;2313743;2298863;2298848;2300202;2301993;2303791;6480464;6484113;6907045;8554872 15789446;18765832;19233274;8065359;9419423 10557084;10654605;10866835;11414706;11788904;11836627;12052822;12067714;12477932;12556519;12629517;12805222;12897152;14702039;14722104;14739301;15454084;15489334;16227623;16344560;16565323;16621789;16710414;16799642;16890161;17137849;17211448;17458904;17544413;17546602;17595165;17698587;17822920;17888180;17976063;17990294;18242164;18305214;18344425;18413325;18462958;18505824;18555765;18615587;18632632;18719101;18724388;18941195;19072540;19101069;19144919;19265664;19351711;19453261;19523451;19736317;19816934;19881541;19887570;19901330;19910923;20085589;20093360;20227366;20336604;20347274;20634891;20693288;20723538;20735988;20932509;21123170;21422228;21536751;21600099;21606194;21667018;21670201;21957254;22005028;22110662;22396540;22550094;22705156;22714865;22789636;22824791;22876125;22941468;23168335;23204070;23268410;23276938;23337036;23382209;23396967;23396968;23509994;23559372;23893409;23954131;23999248;24265322;24321072;24340027;24346024;24736394;24991956;8167409;8168088 89780 P56704 AB060284;ABBA01005826;ABBA01005827;ABBA01005828;AK056278;AL136379;AMYH02002836;AMYH02002837;BC103921;BC103922;BC103923;CA437424;CH471098;CQ970112;DA742143;JB345840;NM_033131 AAI03922;AAI03923;AAI03924;BAB61052;BAB71136;CAI38643;CDH92868;EAW69829;NP_149122;P56704 Hs.336930 1667610;1720119 D1S1601;RH123801 MGC119418;MGC119419;MGC119420 OTTHUMP00000035713;protein Wnt-3a APPROVED protein-coding ENSG00000154342 HGNC:15983 05897 606359 REVIEWED 69159 WNT7A wingless-type MMTV integration site family, member 7A This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008] 3 3 3 p25 13798391 13859925 - 13860082 13921618 - 13818585 13880121 - 1601222;1580863;2313743;2298863;2298848;2301993;2298847;4107045;6480464;6907045;7240710;8554872;8699517 11232041;16164600;18567805;18765832;8065359;9419423 11070089;11784006;12477932;12843296;12857724;12893825;12937339;14550385;15040835;15082716;15705594;15802269;16169070;16258938;16826533;16835228;17201809;17202865;17588571;18230341;18413325;18538017;18606951;18986540;19054571;19159115;19171330;19453261;19849868;20083228;20219685;20379614;20470940;20501643;20503388;20709709;20845993;20949531;21271649;21344627;22177312;22232518;22294752;22403725;22987443;23056560;23144326;23321718;23727605;24711502;25030175;8167409;8168088;8893824;9161407;9790192 7476 O00755 ABBA01025165;ABBA01025166;ABBA01025167;AC090646;AMYH02006315;BC008811;CH471055;CQ970122;D83175;NG_008088;NM_004625;U53476 AAC51319;AAH08811;ABM83949;ABM87266;BAA82509;CAI38648;EAW64173;EAW64174;NP_004616;O00755 Hs.72290 1342243;2136903 D3S2385;SHGC-76734 OTTHUMP00000160234;protein Wnt-7a;proto-oncogene Wnt7a protein;wingless-related mmtv integration site 7a APPROVED protein-coding HGNC:12786 03341 228930;276820;601570 REVIEWED 1322906 WNT7B wingless-type MMTV integration site family, member 7B This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 2008] 22 22 22 q13 1 2432 - 46316246 46373008 - 45920366 45977128 - 1581694;1601222;1580863;2313743;2298699;2292645;2298863;2299932;2298848;2293491;2301993;2291878;6480464;6907045 15492823;15608632;15923619;16164600;18177422;18765832;8065359;8168088;9419423;9461004 10866835;11562755;12239632;12429992;12477932;14702039;15164427;15489334;16227623;16258938;17207965;19734317;19863181;20634891;21732829;21988832;22838404;22949635;23386686;23416978;24638982;8167409;8889548;9284940 7477 A8K0G1;B8A595;B8A597;B8A598;P56706 AB062766;ABBA01007141;AF416743;AK123019;AK289526;AMYH02038528;BC034923;BM047487;BX511035;CB853639;CH471138;CQ970124;CR536603;NM_058238 AAH34923;AAN32640;ACE86479;ACE87160;ADQ32118;BAB68399;BAF82215;CAI38649;EAW73394;NP_478679;P56706 Hs.512714 1701816;1740055;2106801;2180109;5015861;7185938 AL022549;D10S16;D22S1130;DXS7011E;UniSTS:465426 OTTHUMP00000206327;OTTHUMP00000206328;OTTHUMP00000206329;OTTHUMP00000206331;protein Wnt-7b APPROVED protein-coding ENSG00000188064 HGNC:12787 03573 601967 REVIEWED 1316953 WNT8B wingless-type MMTV integration site family, member 8B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008] 10 10 10 q24 95960656 95981247 + 102222812 102243399 + 100463055 100483642 + 1580863;2313743;2301993;6907045 18765832 11788899;11956596;15146197;15164054;16385451;17390031;20972907;23362303;7635061;8167409;8661156;9536085 7479 Q93098 AB073637;ABBA01063226;ABBA01063227;AL133352;AL359759;AMYH02023657;CH471066;CN276452;CQ970128;NM_003393;X91940;Y11094;Y11108 AAI56633;BAB83924;CAA63017;CAA71968;CAA71994;CAI38651;EAW49825;NP_003384;Q93098 Hs.421281 2218152 WNT8B_3887 OTTHUMP00000020285;protein Wnt-8b APPROVED protein-coding ENSG00000075290 HGNC:12789 03235 601396 REVIEWED 1312797 WNT9A wingless-type MMTV integration site family, member 9A The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is expressed in gastric cancer cell lines. The protein encoded by this gene shows 75% amino acid identity to chicken Wnt14, which has been shown to play a central role in initiating synovial joint formation in the chick limb. This gene is clustered with another family member, WNT3A, in the chromosome 1q42 region. [provided by RefSeq, Jul 2008] 1 1 1 q42 201300553 201327066 - 228109165 228135676 - 227921464 227947975 - 1580863;2313743;2299944;2301993;2300156;6480464;6907045;5490966;8554872 11713592;16818445;18765832;18772397 11239392;11414706;11836627;12477932;12573259;15489334;15809769;16258938;16710414;17351820;17429723;19453261;19863181;20613673;20854080;23154410;24778176;8167409;9441749 7483 D9ZGG3;O14904 AB060283;ABBA01005823;AF028702;AK131041;AL360269;AMYH02002835;BC111960;BC113431;CH471098;CQ970130;HM015601;NM_003395 AAC39550;AAI11961;AAI13432;ADL14522;ADR82984;BAB61051;CAI38652;EAW69821;NP_003386;O14904 Hs.149504 1692274 AL033796 MGC138165;MGC141991;WNT14 OTTHUMP00000035712;protein Wnt-9a;wingless-type MMTV integration site family, member 14 APPROVED protein-coding HGNC:12778 04179 602863 VALIDATED 1319983 WNT9B wingless-type MMTV integration site family, member 9B The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008] 17 17 17 q21 41378455 41403922 + 44928952 44964096 + 46851586 46886730 + 1580863;2313743;2301993;6480464;6907045 18765832 11604992;11713592;12477932;12573259;12975309;16226712;16258938;18413325;19171330;20379614;20634891;20672350;20890934;22808956;23785285;23974041;24268733;8167409;9441749 7484 E7EPC3;I3L0L8;O14905 AB063483;ABBA01041105;AC015855;AC243685;AF028703;AK127268;AK127615;AMYH02033514;AY358217;BC064534;CH471231;CQ970132;NG_029164;NM_003396;XM_005257637;XM_006725631 AAC39551;AAH64534;AAQ88584;BAB70499;BAC86908;BAC87058;CAI38653;EAW57702;EAW57703;NP_003387;O14905;XP_005257694;XP_006725694 Hs.326420 1734424;2116534;2218154;5014051;5015404;5016851;5024756;5037552 D17S1399E;D17S2024;D8S2278;D8S2279;L17705;RH80030;RH80031;WNT9B_3891 WNT14B;WNT15 protein Wnt-14b;protein Wnt-9b;wingless-type MMTV integration site family, member 15 APPROVED protein-coding ENSG00000158955 HGNC:12779 04180 602864 REVIEWED 1350775 WRAP73 WD repeat containing, antisense to TP73 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Studies of the related mouse protein suggest that the encoded protein may play a role in the process of ossification. [provided by RefSeq, Mar 2009] 1 1 1 p36.3 2802433 2821099 - 3547331 3566671 - 3630767 3650107 - 6480464;8554872 11401440;12477932;14702039;15489334;16710414;17207965;17353931;19615732;20360068;21890473;21906983;8125298 49856 J3KTP2;Q5T0D5;Q5TBW1;Q9P2S5 AB034912;ABBA01073655;AI376011;AK000437;AK225525;AK302397;AL136528;AL513320;AMYH02000137;BC002611;BC086311;CH471130;DC380547;EF494669;NG_033937;NM_017818;XM_005244754;XM_005244755 AAH86311;ADQ32406;BAA91164;BAA92312;BAG63711;EAW71459;EAW71460;EAW71461;NP_060288;Q9P2S5;XP_005244811;XP_005244812 Hs.31714 1687341;1706342;2175697 RH93413;SHGC-32565;SHGC-80737 FLJ20430;MGC99569;WDR8 OTTHUMP00000000664;OTTHUMP00000000665;OTTHUMP00000000666;WD repeat domain 8;WD repeat-containing protein 8;WD repeat-containing protein WRAP73;WD repeat-containing protein antisense to TP73 APPROVED protein-coding ENSG00000116213 HGNC:12759 06918 606040 REVIEWED 6483967 WRBP1 tryptophan rich basic protein pseudogene 1 4 4 4 q25 110906202 110906555 - 113614594 113614947 - 112693438 112693791 - 11181995 256085 ABBA01063820;AC106864;AMYH02009938;CH471057;NG_006948 EAX06286 pseudo HGNC:44010 INFERRED 736431 WNT2 wingless-type MMTV integration site family member 2 This gene is a member of the WNT gene family. The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q31.2 111724862 111771525 - 116916685 116963343 - 117276631 117323289 - 1580863;2291875;2291878;2291879;2313743;2291877;2298863;2298848;2301993;2291874;727214;2326231;6480464;6907045;8554872 14517837;14625142;15736421;18765832;7903963;8064891;8065359;8168088;9099960;9419423 10347172;10557084;11290296;11449391;11712082;11840514;12063568;12138115;12147710;12477932;12690205;12853948;14533014;14702039;15040835;15048648;15489334;15507471;15878915;15896469;15900580;16132582;16258938;16407829;17386109;17534895;17948129;18184402;1846319;18600204;18703315;18949017;19038973;19058789;19239325;19421142;19444628;19666519;19734317;19857041;19895723;19913121;20492734;20628086;20628624;21474991;21575668;21732829;21988832;22041457;22489561;22522212;22763454;22872573;22949635;23268410;23322712;23603171;23694962;23815780;2971536;8167409 7472 C9JUI2;F8WDR1;P09544 ABBA01057800;ABBA01057801;AC002465;AC006326;AK056742;AMYH02016636;BC029854;BC078170;BT019608;CH236947;CH471070;CQ970106;NM_003391;NR_024047;X07876;XM_006716109 AAB67043;AAD28351;AAH29854;AAH78170;AAV38415;ABM83383;ABM86595;BAG51800;CAA30725;CAI38640;EAL24355;EAW83525;NP_003382;P09544;XP_006716172 Hs.567356 1711868;1729423;1777211;1797036;1798864;1799208;1800082;1801310;1805836;1805838;1806052;1807266;1807414;1808152;1808224;1809610;1809676;1810600;1811854;1812558;1813940;1814410;1815134;1816742;1816970;1817056;1817788;1818142;1818478;1820830;1821308;1822352;1823040;1823042;1823176;1824072;1824702;1825498;1825648;1825974;1828304;1828306;1828952;1831968;1833354;1834772;1836220;1837494;1838088;1838134;1839446;1839706;1839764;1839840;1841248;1841310;1841914;1842178;1842552;1844430;1845640;1845934;1858554;1986076;1986078;1986080;1986082;1986084;1986086;1986088;1986090;1986092;1986094;1986096;1986098;1986100;1986102;1986104;1986106;1986108;1986110;1986112;1986114;1986116;1986118;1986120;1986122;1986124;1986126;1986128;1986130;1986132;1986134;1986136;1986138;1986140;1986142;1986144;1986146;1986148;1986150;1986152;1986154;1986156;1986158;1986160;1986162;1986164;1986166;1986168;1986170;1986172;1986174;1986176;1986178;1986180;1986182;1986184;1986186;1986188;1986190;1986192;1986194;1986196;1986198;1986200;1986202;1986204;1986206;1986208;1986210;1986212;1986214;1986216;1986218;1986220;1986222;1986224;1986226;1986228;1986230;1986232;1986234;1986236;1986238;1986240;1986242;1986244;1986246;1986248;1986250;1986252;1986254;1986256;1986258;1986260;1986262;1986264;1986266;1986268;1986270;1986272;1986274;1986276;1986278;1986280;1986282;1986284;1986286;1986288;1986290;1986292;1986294;1986296;1986298;1986300;1986302;1986304;1986306;1986308;1986310;1986312;1986314;1986316;1986318;1986320;1986322;1986324;1986326;1986328;1986330;1986332;1986334;1986336;1986338;1986340;1986342;1986344;1986346;1986348;1986350;1986352;1986354;1986356;1986358;1986360;1986362;1986364;1986366;1986368;1986370;1986372;1986374;1986376;1986378;1986380;1986382;1986384;1986386;1986388;1986390;1986392;1986394;1986396;1986398;1986400;1986402;1986404;1986406;1986408;1986410;1986412;1986414;1986416;1986418;1986420;1986422;1986424;1986426;1986428;1986430;1986432;1986434;1986436;1986438;1986440;1986442;1986444;1986446;1986448;2094324;2094326;2094328;2094330;2094332;2094334;2094336;2094338;2094340;2094342;2094344;2094346;2094348;2094350;2094352;2094354;2094356;2094358;2094360;2094362;2094364;2094366;2094368;2094370;2094372;2094374;2094376;2094378;2094380;2094382;2094384;2094386;2094388;2094390;2094392;2094394;2094396;2094398;2094400;2094402;2094404;2143845;7184040;7184472;7184608;7184621;7184623 D7S23;D7S2769;ECD00272;ECD00452;ECD00896;ECD01527;ECD03869;ECD03870;ECD03979;ECD04601;ECD04678;ECD05057;ECD05093;ECD05797;ECD05830;ECD06293;ECD06931;ECD07289;ECD07997;ECD08234;ECD08601;ECD09415;ECD09534;ECD09577;ECD09948;ECD10127;ECD10300;ECD11491;ECD11734;ECD12264;ECD12608;ECD12609;ECD12676;ECD13132;ECD13449;ECD13857;ECD13932;ECD14096;ECD15277;ECD15278;ECD15603;ECD17122;ECD17820;ECD18534;ECD19271;ECD19914;ECD20215;ECD20239;ECD20905;ECD21036;ECD21065;ECD21103;ECD21820;ECD21851;ECD22159;ECD22292;ECD22483;ECD23429;ECD24038;ECD24187;G49397;REN63940;REN63941;REN63942;REN63943;REN63944;REN63945;REN63946;REN63947;REN63948;REN63949;REN63950;REN63951;REN63952;REN63953;REN63954;REN63955;REN63956;REN63957;REN63958;REN63959;REN63960;REN63961;REN63962;REN63963;REN63964;REN63965;REN63966;REN63967;REN63968;REN63969;REN63970;REN63971;REN63972;REN63973;REN63974;REN63975;REN63976;REN63977;REN63978;REN63979;REN63980;REN63981;REN63982;REN63983;REN63984;REN63985;REN63986;REN63987;REN63988;REN63989;REN63990;REN63991;REN63992;REN63993;REN63994;REN63995;REN63996;REN63997;REN63998;REN63999;REN64000;REN64001;REN64002;REN64003;REN64004;REN64005;REN64006;REN64007;REN64008;REN64009;REN64010;REN64011;REN64012;REN64013;REN64014;REN64015;REN64016;REN64017;REN64018;REN64019;REN64020;REN64021;REN64022;REN64023;REN64024;REN64025;REN64026;REN64027;REN64028;REN64029;REN64030;REN64031;REN64032;REN64033;REN64034;REN64035;REN64036;REN64037;REN64038;REN64039;REN64040;REN64041;REN64042;REN64043;REN64044;REN64045;REN64046;REN64047;REN64048;REN64049;REN64050;REN64051;REN64052;REN64053;REN64054;REN64055;REN64056;REN64057;REN64058;REN64059;REN64060;REN64061;REN64062;REN64063;REN64064;REN64065;REN64066;REN64067;REN64068;REN64069;REN64070;REN64071;REN64072;REN64073;REN64074;REN64075;REN64076;REN64077;REN64078;REN64079;REN64080;REN64081;REN64082;REN64083;REN64084;REN64085;REN64086;REN64087;REN64088;REN64089;REN64090;REN64091;REN64092;REN64093;REN64094;REN64095;REN64096;REN64097;REN64098;REN64099;REN64100;REN64101;REN64102;REN64103;REN64104;REN64105;REN64106;REN64107;REN64108;REN64109;REN64110;REN64111;REN64112;REN64113;REN64114;REN64115;REN64116;REN64117;REN64118;REN64119;REN64120;REN64121;REN64122;REN64123;REN64124;REN64125;REN64126;RH17465;STS-X07876;WNT2_738;stSG598541;stSG598542;stSG598543;stSG598544;stSG598545;stSG598546;stSG598547;stSG598548;stSG598549;stSG598550;stSG598551;stSG598552;stSG598553;stSG598554;stSG598555;stSG598556;stSG598557;stSG598558;stSG598559;stSG598560;stSG598561;stSG598562;stSG598563;stSG598564;stSG598565;stSG598566;stSG598567;stSG598568;stSG598569;stSG598570;stSG598571;stSG598572;stSG598573;stSG598574;stSG598575;stSG598576;stSG598577;stSG598578;stSG598579;stSG598580;stSG598581 INT1L1;IRP Int-1-related protein;OTTHUMP00000025046;int-1-like protein 1;protein Wnt-2;secreted growth factor;wingless-related mmtv integration site 2 APPROVED protein-coding ENSG00000105989 HGNC:12780 00999 147870 REVIEWED 1314861 WNT8A wingless-type MMTV integration site family, member 8A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014] 5 5 5 q31 133541722 133549145 + 137419581 137428337 + 138083892 138092648 + 1580863;2313743;2301993;6480464;6907045;8554872 18765832 11408932;11956596;12477932;18413325;20890934;22544366;22889411;23836442;8167409 7478 D6RF47;D6RF94;Q9H1J5 AB057725;ABBA01068697;ABBA01068698;AC113382;AMYH02012279;AMYH02012280;AY009402;BC144001;BC144497;CH471062;CQ970126;NM_001300938;NM_001300939;NM_058244;NR_125351;XM_005272076;XM_005272077 AAG38662;AAI56845;BAB60960;CAI38650;EAW62165;EAW62166;EAW62167;EAW62168;NP_001287867;NP_001287868;NP_490645;Q9H1J5;XP_005272133;XP_005272134 Hs.591274 WNT8D;Wnt-8a;Wnt-8d OTTHUMP00000180556;OTTHUMP00000210921;OTTHUMP00000223361;OTTHUMP00000223458 APPROVED protein-coding ENSG00000061492 HGNC:12788 05898 606360 REVIEWED 1353229 WS2A Waardenburg syndrome, type 2A ASSOCIATED WITH Albinism ocular late onset sensorineural deafness (inferred); MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (inferred); MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (inferred) 7240710 7951321 7487 HGNC:12793 103470;103500;193510;614456 1346094 WRNIP1 Werner helicase interacting protein 1 Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012] 6 6 6 p25.2 3994624 4014940 + 2765575 2785979 + 2765341 2785745 + 727771;1580863;6480464 11301316 12477932;14574404;14702039;15302935;15489334;15592455;15670210;16055720;17081983;17203973;17550899;17888034;18029348;18613717;18729074;18842586;19556710;19615732;19946888;20676042;21139048;21252943;21890473;21903422;21906983;21963094;21987572;22053931;22118674;22209848;22505724;22863883;22939629;23000965;23110726;23275444;23314748;23383273;23752268;24250222;24726327;24816145;25015289;8125298 56897 B3KT25;Q96S55 AB056152;AB209723;ABBA01048628;AF218313;AK026179;AK094823;AK223593;AK315047;AK315471;AL139092;AMYH02012986;BC018923;CH471087;FB750028;NM_020135;NM_130395;U56249;XM_005249232;XM_005249234 AAF80563;AAH18923;ABM82876;ABM86062;BAB15383;BAB60709;BAD92960;BAD97313;BAG37857;BAG52937;CAT02184;EAW55085;EAW55086;EAW55087;EAW55088;NP_064520;NP_569079;Q96S55;XP_005249289;XP_005249291 Hs.236828 1646335;1677282;1704038;1719945;1770349;2122266;2155663;5014053;5092828 A002J08;A006H22;D1S3693;G32355;RH123951;RH92011;SGC33420;SHGC-34828;SHGC-77842 FLJ22526;RP11-420G6.2;WHIP;bA420G6.2 ATPase WRNIP1;OTTHUMP00000015944;OTTHUMP00000015945;OTTHUMP00000015946;OTTHUMP00000015947;Werner helicase-interacting protein 1;putative helicase RUVBL APPROVED protein-coding ENSG00000124535 HGNC:20876 10494 608196 REVIEWED 1352136 WRB tryptophan rich basic protein This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 21 21 21 q22.3 25949901 25967508 + 40752213 40769815 + 39380287 39397889 + 1580863;6480464 10830953;12189208;12477932;15489334;18029348;20200978;21139048;21444755;21906983;23041287;24250222;24816145;9480850;9544840 7485 B7Z1T1;C9JLV3;H7BYE5;H7C384;O00258 ABBA01009338;ABBA01009339;AF064861;AK293113;AK293866;AK297186;AK299144;AK299245;AK310268;AL163279;AMYH02037832;AW001614;BC012415;BC111393;CH471079;DB498697;DB500750;NM_001146218;NM_004627;XM_005261059;XM_005261060;XM_005261061;Y12478 AAH12415;AAI11394;BAF85802;BAG59675;BAG61196;BAG61276;BAH11617;CAA73081;CAB90454;EAX09645;EAX09646;EAX09647;EAX09648;EAX09649;NP_001139690;NP_004618;O00258;XP_005261116;XP_005261117;XP_005261118 Hs.198308;Hs.744958 1337919;1677931;1798852;1798958;1800884;1802818;1802930;1805972;1812668;1815356;1816246;1818322;1828558;1830256;1832318;1899096;1899098;1899100;1899102;1899104;1899106;1899108;1899110;1899112;1899114;1899116;1899118;1899120;1899122;1899124;1899126;1899128;1899130;1899132;1899134;1899136;1899138;1899140;1899142;1899144;1899146;1899148;1899150;1899152;1899154;1899156;1899158;1899160;1899162;1899164;1899166;1899168;1899170;1899172;1899174;1899176;1899178;1899180;1899182;1899184;1899186;1899188;1899190;1899192;1899194;1899196;1899198;1899200;1899202;1899204;1899206;1899208;1899210;1899212;1899214;1899216;1899218;1899220;1899222;1899224;1899226;1899228;1899230;1899232;1899234;1899236;1899238;1899240;1899242;1899244;1899246;1899248;1899386;2174606;2203168;2203170;2203172;2203174;2203176;2203178;2203180;2203182;2203184;2203186;2203188;2203190;2203192 D21S1412;ECD00266;ECD00321;ECD01307;ECD02297;ECD02355;ECD03939;ECD07345;ECD08714;ECD09164;ECD10218;ECD15406;ECD16262;ECD17298;REN20346;REN20347;REN20348;REN20349;REN20350;REN20351;REN20352;REN20353;REN20354;REN20355;REN20356;REN20357;REN20358;REN20359;REN20360;REN20361;REN20362;REN20363;REN20364;REN20365;REN20366;REN20367;REN20368;REN20369;REN20370;REN20371;REN20372;REN20373;REN20374;REN20375;REN20376;REN20377;REN20378;REN20379;REN20380;REN20381;REN20382;REN20383;REN20384;REN20385;REN20386;REN20387;REN20388;REN20389;REN20390;REN20391;REN20392;REN20393;REN20394;REN20395;REN20396;REN20397;REN20398;REN20399;REN20400;REN20401;REN20402;REN20403;REN20404;REN20405;REN20406;REN20407;REN20408;REN20409;REN20410;REN20411;REN20412;REN20413;REN20414;REN20415;REN20416;REN20417;REN20418;REN20419;REN20420;REN20421;REN20422;REN20491;RH65241;SHGC-24182;stSG622737;stSG622738;stSG622739;stSG622740;stSG622741;stSG622742;stSG622743;stSG622744;stSG622745;stSG622746;stSG622747;stSG622748;stSG622749 CHD5;FLJ51808 OTTHUMP00000069044;OTTHUMP00000069046;OTTHUMP00000109172;OTTHUMP00000165173;congenital heart disease 5 protein;tail-anchored protein insertion receptor WRB;tryptophan-rich basic protein;tryptophan-rich protein APPROVED protein-coding ENSG00000182093 HGNC:12790 04224 602915 REVIEWED 1344742 WS2B Waardenburg syndrome, type 2B ASSOCIATED WITH Waardenburg syndrome type 2B (inferred) 7240710 7951321 7488 HGNC:12794 600193 1346731 WSB2 WD repeat and SOCS box containing 2 This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 12 12 12 q24.23 118100954 118120938 - 118470492 118499979 - 118032687 118062174 - 1580863;6480464 11819827;12076535;12477932;15489334;16169070;16344560;17001306;17079684;17207965;19322201;20059963;20379614;21070969;21145461;22082156;22939624;8619474;9110174 55884 B4DFS1;F5GXB6;F5H024;F5H280;F5H2L7;Q9NYS7 ABBA01020046;ABBA01020047;ABBA01020048;AC131159;AC131238;AF038187;AF163324;AF229181;AK294230;AK295555;AK298513;AK310892;AMYH02027325;BC015887;CA419381;CA443120;CH471054;DA772463;NM_001278557;NM_001278558;NM_018639 AAF71302;AAF80478;AAH15887;ADQ31750;BAG57532;BAG58458;BAG60718;EAW98117;EAW98118;NP_001265486;NP_001265487;NP_061109;Q9NYS7 Hs.506985 1666638;1667938;1684421;2128858;2180740;5016781 Bdaa5h08;D12S1213E;D12S1776;HUMHM01G06;SHGC-67307;WI-13177 MGC10210;SBA2;WSB-2 CS box-containing WD protein;OTTHUMP00000239708;OTTHUMP00000239709;OTTHUMP00000239710;WD repeat and SOCS box containing protein 2;WD repeat and SOCS box-containing 2;WD repeat and SOCS box-containing protein 2 APPROVED protein-coding ENSG00000176871 HGNC:19222 18305 REVIEWED 1605665 WRAP53 WD repeat containing, antisense to TP53 This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011] 17 17 17 p13.1 7615750 7633180 + 7589389 7606820 + 7686071 7703502 + 6480464;8699517;7240710;8554872 12477932;14702039;15302935;15489334;17081983;17683073;18029348;18676680;18978339;19170196;19179534;19250907;19339270;19342896;19571673;19625176;19692168;19797907;20301779;20360068;20494116;21072240;21205863;21368886;21441950;21963094;22547674;22805008;22939629;23192612;23886136;8125298 55135 E9PMG4;E9PMR3;K7EJ50;Q9BUR4 ABBA01054880;ABBA01054881;ABBA01054882;AC087388;AK001247;AK056669;AK092370;AK225273;AK225411;AK303246;AMYH02032910;AMYH02032911;AY766322;AY766323;BC002336;CH471108;DQ431240;DQ431241;NG_028245;NM_001143990;NM_001143991;NM_001143992;NM_018081;XR_429818 AAH02336;AAW92115;AAW92116;ABD92817;ABD92818;BAA91579;BAG51781;BAG64330;EAW90136;EAW90137;EAW90138;EAW90139;NP_001137462;NP_001137463;NP_001137464;NP_060551;Q9BUR4 Hs.408312 1656789;1698792;1741649;1743427;2189385 D17S634;GDB:181608;GDB:316876;MARC_3409-3410:991937215:1;RH102959 DKCB3;FLJ10385;TCAB1;WDR79 OTTHUMP00000166046;OTTHUMP00000166047;OTTHUMP00000233829;OTTHUMP00000233830;OTTHUMP00000233831;WD repeat domain 79;WD repeat-containing protein 79;WD-encoding RNA antisense to p53;WD40 protein Wrap53;WD40 repeat-containing protein encoding RNA antisense to p53;telomerase Cajal body protein 1 APPROVED protein-coding ENSG00000141499 HGNC:25522 07670 612661;613988 REVIEWED 1317261 WSB1 WD repeat and SOCS box containing 1 This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q11.1 22482487 22502023 + 25621106 25640659 + 27294080 27313633 + 6480464;8554872 10354473;10931946;11076863;11230166;11256614;11384984;12076535;12477932;14702039;15489334;15489336;15965468;16381901;16498413;16804916;17001306;17079684;17207965;17452445;18029348;18093972;18187417;18575577;18978678;19159283;20487506;21145461;21540461;21890473;21900206;21906983;21963094;23064961;23792163;25074266;8125298 26118 B4DGB8;B4DTL1;J3KRG6;J3KS88;J3KSQ3;J3KT03;J3KTB3;J3QLM8;Q9Y6I7 ABBA01015072;AC026254;AF069313;AF072880;AF106683;AF106684;AF112205;AF147442;AF240696;AK057082;AK074917;AK222576;AK294516;AK300262;AK307114;AL110243;AL110269;AMYH02033208;AMYH02033209;BC005226;BC021110;BC048007;BU189299;CH471159;NM_015626;NM_134265;XM_005257963;XR_243778;XR_429881 AAD20954;AAD28808;AAD43036;AAD43037;AAF17193;AAF82746;AAH05226;AAH21110;ADQ32224;BAC11291;BAD96296;BAG57729;BAG62023;CAB53693;CAB53708;CAL38287;CAL38541;EAW51026;EAW51027;EAW51028;EAW51029;EAW51030;EAW51031;NP_056441;NP_599027;Q9Y6I7;XP_005258020 Hs.446017 1677586;1678275;1739481;2159594;5037552 D17S1698;D8S2279;G24371;RH68596;RH69336 SWIP1;WSB-1 OTTHUMP00000163132;OTTHUMP00000163133;SOCS box-containing WD protein SWiP-1;WD repeat and SOCS box-containing 1;WD repeat and SOCS box-containing protein 1 APPROVED protein-coding ENSG00000109046 HGNC:19221 15680 610091 REVIEWED 1346811 WSN Waisman syndrome ASSOCIATED WITH Parkinsonism, early onset with mental retardation (inferred) 7240710 7489 HGNC:12795 311510 1603698 WSCD1 WSC domain containing 1 ENCODES a protein that exhibits sulfotransferase activity (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH trichostatin A; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 p13.2 5989799 6043603 + 5972426 6027747 + 6069106 6124427 + 6480464;8554872 12477932;19460752;23740775;9628581 23302 I3L0U0;I3L127;I3L2Y9;I3L3E6;I3L3G4;I3L4Y7;I3NI40;Q658N2 AB011095;ABBA01054824;AC001231;AC104770;AK000243;AK289603;AK309645;AL833730;AMYH02032867;BC009975;BE504506;CH471108;NM_015253;XM_005256572;XM_005256573 AAH09975;BAA25449;BAF82292;CAH56249;EAW90316;EAW90317;EAW90318;EAW90319;NP_056068;Q658N2;XP_005256629;XP_005256630 Hs.370166 1338832;1759591;2184351 D17S1414E;D17S1832;SHGC-150915 KIAA0523 WSC domain-containing protein 1 protein-coding ENSG00000179314 HGNC:29060 17193 VALIDATED 1605710 WSCD2 WSC domain containing 2 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 12 12 12 q23.3 108192896 108313742 + 108523511 108644314 + 108129567 108250537 + 6480464;8554872 12477932;14702039;18003638;22365631;9872452 9671 F8W030;Q2TBF2 AB018332;ABBA01053141;ABBA01053142;AC009729;AK098069;AK293764;AMYH02027152;AMYH02027153;BC010411;BC037969;BC110330;BC136687;BC136688;BM511109;BX488602;BX647283;CH471054;NM_014653;XM_006719702;XM_006719703;XM_006719704 AAH37969;AAI10331;AAI36688;AAI36689;BAA34509;BAG57182;EAW97807;EAW97808;EAW97809;NP_055468;Q2TBF2;XP_006719765;XP_006719766;XP_006719767 Hs.143591 1712498;1738863;1770814;2168546 D12S1254;D16S2908;G54198;NIB1630 KIAA0789;MGC117165 OTTHUMP00000241594;OTTHUMP00000241930;OTTHUMP00000241931;WSC domain-containing protein 2 protein-coding ENSG00000075035 HGNC:29117 17196 VALIDATED 1318280 WRN Werner syndrome, RecQ helicase-like This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008] 8 8 8 p12 29850819 29989925 + 30890778 31031277 + 31033262 31173761 + 1580819;1580820;1580821;1580825;1580824;1599418;1580863;6480464;7240710;8554872;8699517 10220139;11186893;15246744;15916825;16673358;9021029 10049920;10069711;10206685;10373438;10608806;10779560;10783163;10839545;10871373;10871376;10880505;11027336;11161804;11252893;11301316;11328876;11399766;11420665;11427532;11433031;11498731;11598021;11798788;11809708;11863428;11889123;11919194;11971179;12020873;12034829;12067711;12080066;12177300;12181313;12242278;12244128;12356323;12384494;12629512;12633936;12665521;12704184;12750383;12810661;12842909;12882351;12934712;12937274;12944467;14499497;14534320;14578343;14596914;14612404;14657243;14688284;14734561;15026416;15037256;15084309;15140983;15149862;15187093;15336909;15342556;15355988;15385537;15467456;15489508;15591207;15733840;15735006;15845538;15965237;15995249;16030011;16087220;16098926;16132834;16150736;16223718;16287861;16326861;16339893;16380375;16405962;16412221;16449207;16524884;16622405;16723399;16728435;16738949;16804003;16807477;16906373;17015833;17043893;17115688;17118963;17148451;17173071;17266675;17301258;17317667;1741060;17498979;17521388;17541157;17563354;17611195;17624410;17715146;17764108;17875398;17903301;17911100;17996922;18029348;18084250;18203716;18209099;18212065;18250621;18270339;18271933;18312663;18524993;18558713;18596042;18596239;18639560;18670736;18676680;18677484;18771289;18830263;18852298;18978339;18982914;19056482;19077115;19116388;19170196;19205873;19262689;19282863;19343720;19471022;19487340;19502800;19554081;19573080;19591272;19596686;19615732;19625176;19652551;19692168;19734539;19773279;19896421;19913121;19945966;19948975;19966859;20008939;20157511;20157518;20300059;20301687;20346739;20379614;20428248;20443122;20447876;20453000;20477760;20508983;20516064;20522537;20585393;20600238;20628086;20657174;20691646;20708636;20808731;20813000;20855428;21098121;21107010;21123451;21139048;21210717;21267443;21285356;21365542;21389352;21558802;21558813;21639834;21679440;21736299;21763283;21906983;22037268;22159421;22173703;22272300;22351772;22390926;22410776;22505724;22547774;22562358;22659133;22675465;22689923;22713343;22766507;22787159;22797812;22871734;22989712;23045531;23253856;23322570;23329665;23334603;23523974;23619945;23671665;23849162;23867477;24250222;24332808;24359226;24429382;24816145;8602509;9225981;9288107;9450180;9618508;9671808;9681877;9774636 7486 Q14191;Q59F09 AB003173;AB209652;ABBA01023642;ABBA01023643;ABBA01023644;ABBA01023645;AC009563;AC084736;AF032113;AF091214;AF181896;AF181897;AL833572;AMYH02017727;AMYH02017728;AMYH02017729;AMYH02017730;AY442327;AY818673;BP279291;CH471080;L76937;NG_008870;NM_000553 AAC41981;AAC63361;AAF06162;AAR05448;AAX21098;BAD92889;EAW63424;EAW63425;EAW63426;NP_000544;Q14191 Hs.632050 1666382;1679974;1728285;1752659;1786552;1790093;1790095;1790097;1790099;1790101;1790103;1790105;1790107;1790109;1790111;1790113;1790115;1790117;1790119;1790121;1790123;1790125;1790127;1790129;1790131;1791394;1791608;2112038;2112044;2112116;2112118;2112120;2112122;2113076;2114217 D8S2162;D8S2170;D8S2233;D8S2234;D8S2236;D8S2237;D8S2300;G63421;PMC109206P1;PMC117198P1;RH64913;SHGC-106496;SHGC-111489;SHGC-37564;WI-17945;csnpwrn-pcr13-1;csnpwrn-pcr14-1;csnpwrn-pcr15-1;csnpwrn-pcr18-1;csnpwrn-pcr2-1;csnpwrn-pcr20-1;csnpwrn-pcr21-1;csnpwrn-pcr22-1;csnpwrn-pcr23-1;csnpwrn-pcr25-1;csnpwrn-pcr26-1;csnpwrn-pcr27-1;csnpwrn-pcr29-1;csnpwrn-pcr30-1;csnpwrn-pcr31-1;csnpwrn-pcr34-1;csnpwrn-pcr4-1;csnpwrn-pcr5-1;csnpwrn-pcr6-1;csnpwrn-pcr7-1 DKFZp686C2056;RECQ3;RECQL2;RECQL3 DNA helicase, RecQ-like type 3;OTTHUMP00000225301;Werner syndrome ATP-dependent helicase;exonuclease WRN;recQ protein-like 2 APPROVED protein-coding ENSG00000165392 HGNC:12791 05212 277700;604611 REVIEWED 1354232 WT2 Wilms tumor 2 ASSOCIATED WITH Beckwith-Wiedemann Syndrome (inferred); Familial Wilms tumor 2 (inferred); Silver-Russell Syndrome (inferred) 7240710 7491 HGNC:12797 130650;180860;194071 6766607 WTAPP1 Wilms tumor 1 associated protein pseudogene 1 11 11 11 q22.2 99816062 99869104 + 102654407 102707497 + 102783676 102836766 + 14702039;19913121;20031604;20628086 100288077 ABBA01039931;AK097805;AMYH02025488;AMYH02025489;AP000619;AP000789;CH471065;KF495669;NR_038390 EAW67030 Hs.661772 1653581;1661212;1703478;1712110;1742571;1791792;1791796;1792474;1792476;1794890;1794922;1855507;2115489;2151235 D14S1188;G54104;GDB:197898;MMP1;PMC125702P3;PMC125702P5;PMC151710P3;PMC151710P4;PMC65699P1;PMC85083P2;RH17661;SHGC-11954;SHGC-82595;STS-X05232 pseudo ENSG00000255282 HGNC:44115 VALIDATED 1605386 WT1-AS WT1 antisense RNA This gene is located upstream of the Wilms tumor 1 (WT1) gene; these two genes are bi-directionally transcribed from the same promoter region. This gene is imprinted in kidney, with preferential expression from the paternal allele. Imprinting defects at chromosome 11p13 may contribute to tumorigenesis. [provided by RefSeq, May 2014] 11 11 11 p13 32604017 32608368 + 32457285 32461636 + 32435739 32440090 + 6480464 10340388;12477932;15489334;15687485;16134181;16344560;16554811;17210670;17940140;2173145;8208551;8290269;8406502;8414514 51352 Q06250 ABBA01060912;AL049692;AMYH02024557;AW194904;BC002734;BC096708;BC098290;BC100673;BM543913;BX110205;BX387533;BX387534;CH471064;DA743604;DB262871;DQ289488;DQ289489;DQ289490;HG503666;L25110;M60614;NG_009272;NR_023920;NR_120546;NR_120547;NR_120548;NR_120549;X69950 AAA63269;CAA49572;EAW68219;Q06250 Hs.567499;Hs.738474 1743031;1743737;1743739;1743741;1743743;1743745;1743747;1743749;1744531;1744533;1745171;1745173;1745175;1745177;1745181;1778927;2151970;5493191 D11S4382;GDB:250580;GDB:371622;GDB:371627;GDB:371630;GDB:371633;GDB:371636;GDB:371639;GDB:371642;GDB:512306;GDB:512315;GDB:595974;GDB:595983;GDB:595991;GDB:596004;GDB:596045;RH17710;UniSTS:484689 MGC120207;MGC120208;MGC120209;WIT-1;WIT1;WT1-AS1;WT1AS;dJ74J1.1 APPROVED ncrna HGNC:18135 07439 607899 VALIDATED 1342868 WTS Wilson-Turner X-linked mental retardation syndrome ASSOCIATED WITH CORNELIA DE LANGE SYNDROME 5 (inferred); Wilson-Turner X-linked mental retardation syndrome (inferred) 7240710 1605216;1746601 7492 1694318 DXS94 HGNC:12798 300882;309585 1343375 WTIP Wilms tumor 1 interacting protein ENCODES a protein that exhibits transcription corepressor activity (inferred); zinc ion binding (inferred); INVOLVED IN cytoskeleton organization; gene silencing by miRNA; negative regulation of hippo signaling; FOUND IN cytoplasmic mRNA processing body; INTERACTS WITH leptomycin B; 3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine (ortholog); benzo[a]pyrene (ortholog) 19 19 19 q13.11 31685286 31704490 + 34972880 34992085 + 34481900 34501180 + 6480464 12477932;14736876;18331720;19785987;20086015;20133701;21686224;21900451;22286099 126374 A6NIX2;K7EKM1 ABBA01018721;ABBA01018722;ABBA01018723;AC008747;AK130059;AMYH02035963;BC030216;NM_001080436;XM_005258518;XM_006723014 A6NIX2;AAI60027;NP_001073905;XP_005258575;XP_006723077 Hs.585010 1649449;1689460 RH91502;STS-AA025297 WT1-interacting protein;Wilms tumor protein 1-interacting protein protein-coding HGNC:20964 614790 PROVISIONAL 1321461 WTAP Wilms tumor 1 associated protein The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in several transcript variants encoding three different isoforms. [provided by RefSeq, Jul 2012] 6 6 6 q25-q27 160794229 160823430 + 160147712 160177351 + 159726998 159756319 + 6480464 10942595;11001926;12444081;12477932;12522145;14675924;15009096;15146197;15161933;15302935;15489334;16189514;16344560;16912181;17088532;17095724;17207965;18029348;18505803;19084217;19322201;19531213;19605357;19969384;21139048;21890473;21906983;21963094;21988832;22505724;22678362;22939629;22957919;23000965;23354623;24100041;24407421;24413322;24816145;7788527 9589 Q15007;Q9BZS4 AA706250;ABBA01021063;ABBA01021064;AF277190;AF374416;AJ276706;AK127822;AK131393;AK290854;AL135914;AL583911;AMYH02014871;AMYH02014872;BC000383;BC004432;BC028180;BC069192;BE906617;BG702882;BQ778248;BQ948913;BX387163;CH471051;CN284477;CR627456;D14661;DA138013;DA561768;NM_001270531;NM_001270532;NM_001270533;NM_004906;NM_152857;NM_152858 AAH00383;AAH04432;AAH69192;AAK07548;AAK54764;ADQ32040;BAA03495;BAF83543;BAG54579;CAC10188;CAC29495;CAH10537;EAW47622;EAW47623;EAW47624;EAW47625;EAW47626;EAW47627;EAW47628;NP_001257460;NP_001257461;NP_001257462;NP_004897;NP_690596;NP_690597;Q15007 Hs.446091 1663184;1669092;1677226;1689722;2153137;2175359;2179953;2181556 D6S1433;RH25332;RH40826;RH45141;RH45346;RH45351;SHGC-56705;SHGC-56803 DKFZp686F20131;KIAA0105;MGC3925 OTTHUMP00000017522;OTTHUMP00000017523;PNAS-132;WT1-associated protein;Wilms' tumour 1-associating protein;female-lethal(2)D homolog;hFL(2)D;pre-mRNA-splicing regulator WTAP;putative pre-mRNA splicing regulator female-lethal(2D);wilms tumor 1-associating protein APPROVED protein-coding ENSG00000146457 HGNC:16846 09259 605442 REVIEWED 6481417 WWC3-AS1 WWC3 antisense RNA 1 p22.2 100873953 AC002365;BU754164;HG512430 Hs.686054 APPROVED ncrna HGNC:41236 1602647 WWC2-AS2 WWC2 antisense RNA 2 INTERACTS WITH diazinon; disodium selenite 4 4 4 q35.1 181352185 181354363 - 184018174 184020352 - 183097021 183099199 - 6480464 12477932;14702039 152641 Q96NR7 ABBA01070496;AC019193;AK054839;AMYH02010634;BC126477;BC126479;CH471056;NR_024008 BAB70812;EAX04695 Hs.745108 1690782;5493165;5493839 RH99022;UniSTS:484523;UniSTS:495257 C4orf38;FLJ30277;FLJ30278;MGC161755;MGC161757 APPROVED ncrna ENSG00000251359 HGNC:26390 08082 VALIDATED 1605043 WWC2 WW and C2 domain containing 2 ENCODES a protein that exhibits kinase binding; protein complex scaffold; INVOLVED IN negative regulation of hippo signaling; negative regulation of organ growth; negative regulation of transcription from RNA polymerase II promoter; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 4 4 4 q35.1 181354474 181575877 + 184020463 184241930 + 183099273 183320777 + 6480464;8554872 12477932;14702039;15161933;15302935;19913121;20628086;20881960;21988832;22948661;8125298 80014 D6R9P8;F8WET3;Q6AWC2 ABBA01070496;ABBA01070497;ABBA01070498;AC019193;AC093844;AC099397;AJ566366;AK025682;AK074260;AK091401;AK126057;AK127061;AK225323;AL832424;AMYH02010634;AMYH02010635;AMYH02010636;BC017957;BC053873;BC107683;BM046889;BX647378;BX647704;CH471056;DN999977;NM_024949;XM_006714312;XM_006714313 AAH17957;AAH53873;AAI07684;BAB15215;BAB85032;BAC86418;BAC86807;CAD97477;CAH10569;CAH10570;CAH10641;EAX04694;NP_079225;Q6AWC2;XP_006714375;XP_006714376 Hs.333179 1651315;1667942;1673953;1679942;1683160;1690782;1724403;1748783;1764733;1773661;1774954;1857028;2106447;2117730;2129260;2129932;2136327;2144528;2149671;2170894;2182082 BOMB_4459;D4S2865;D4S3306;G16725;G33625;RH122363;RH36596;RH75012;RH99022;SHGC-110403;SHGC-148320;SHGC-24797;SHGC-25154;SHGC-35220;SHGC-50189;SHGC-50362;SHGC-59360;SHGC-59361;SHGC-59814;SHGC-59862;SHGC-67248 BOMB;FLJ22029;FLJ34082 BH-3-only member B;BH3-only member B protein;OTTHUMP00000198246;OTTHUMP00000218735;OTTHUMP00000218736;OTTHUMP00000218737;WW domain-containing protein 2;WW, C2 and coiled-coil domain containing 2 protein-coding ENSG00000151718 HGNC:24148 12529 VALIDATED 1601752 WWC3 WWC family member 3 This gene encodes a member of the WWC family of proteins, which also includes the WWC1 (KIBRA) gene product and the WWC2 gene product. The protein encoded by this gene includes a C2 domain, which is known to mediate homodimerization in the related WWC1 gene product. [provided by RefSeq, Sep 2011] X X X p22.32 14155064 14283798 + 9983795 10112518 + 10015755 10144478 + 6480464 10574462;12477932;14702039;15489334;16344560;21832049;23535732 55841 Q9ULE0 AA401229;AB033106;ABBA01070787;ABBA01070788;ABBA01070789;ABBA01070790;ABBA01070791;ABBA01070792;ABBA01070793;ABBA01070794;ABBA01070795;ABBA01070796;ABBA01070797;AC002359;AC002364;AC002365;AC121345;AI130747;AI306162;AK024683;AK091936;AK292961;AK301129;AL353937;AMYH02038843;AMYH02038844;AMYH02038845;BC003527;BC032447;BC035601;BC098455;BU500300;BU500742;CH471074;DA728210;DB636564;KC987947;KF458970;KF458975;KF458977;KF458982;NG_021467;NM_015691 AAH03527;AAH32447;AAI56329;AAI57115;AGV22437;BAA86594;BAF85650;BAG52444;BAG62722;CAH56367;EAW98775;NP_056506;Q9ULE0 Hs.527524 1647212;1664714;1694002;1694006;1694026;1702840;2151774;2188245 A004I46;AF003657;AF003659;AF003671;DXS410;DXS8188;G66296;WI-17390 BM042;KIAA1280 OTTHUMP00000022889 APPROVED protein-coding ENSG00000047644 HGNC:29237 11136 VALIDATED 7248316 WWP1P1 WW domain containing E3 ubiquitin protein ligase 1 pseudogene 1 3 3 3 q12.1 96768345 96771110 + 98376453 98379611 + 98657609 98660767 + 339843 ABBA01026928;AC016962;AMYH02007289;NG_022259 pseudo HGNC:48944 INFERRED 1351210 WWS Wieacker-Wolff syndrome ASSOCIATED WITH Wieacker syndrome (inferred) 7240710 7493 HGNC:12800 314580 1323344 WWP1 WW domain containing E3 ubiquitin protein ligase 1 WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008] 8 8 8 q21 83549943 83675018 + 87354965 87480181 + 86342736 86468265 + 1580863;2302550;6480464;6484113;6907045;8554872 17726579 11230166;11375995;11779188;12223491;12450395;12477932;12535537;14556380;15003522;15161933;15163754;15221015;15231748;15359284;15489334;16189514;16223724;16713569;16728642;16785210;16924229;17013377;17016436;17081983;17330240;17609263;18724389;18806757;19035836;19047365;19267401;19307600;19343052;19366705;19447967;19561640;19580544;19765186;20211142;20694673;20951678;21048031;21191027;21480222;21487105;21532586;21572392;21795702;21890473;21906983;21963094;21988832;21996799;22045023;22051607;22087225;22266093;22379092;22629406;22773947;22939624;22948661;23000965;23293026;23573293;23799152;23849376;24250222;24457600;24792179;24850914;25092867;8889548;9169421;9647693;9753456 11059 H0YBA4;H0YBS9;Q9H0M0 ABBA01037359;ABBA01037360;ABBA01037361;ABBA01037362;AC083845;AC103760;AC103817;AK292800;AK310683;AL050082;AL136739;AMYH02018360;AMYH02018361;AMYH02018362;AW137654;AY043361;AY345857;BC015380;BC036065;BM664090;CH471060;KF458790;NM_007013;U96113;XM_005250760;XM_005250761 AAC51324;AAH15380;AAH36065;AAK94668;AAQ22764;ACE86844;ACE87531;BAF85489;CAB66673;EAW91634;EAW91635;EAW91636;EAW91637;NP_008944;Q9H0M0;XP_005250817;XP_005250818 Hs.655189 1648149;1673120;1717053;1846645;1854765;1856819 RH124031;RH17838;SGC38286;SHGC-58053;SHGC-77138;STS-H20821 AIP5;DKFZp434D2111;Tiul1;hSDRP1 NEDD4-like E3 ubiquitin-protein ligase WWP1;Nedd-4-like ubiquitin-protein ligase;OTTHUMP00000224542;TGIF-interacting ubiquitin ligase 1;WW domain-containing protein 1;atrophin-1 interacting protein 5;atrophin-1-interacting protein 5 APPROVED protein-coding ENSG00000123124 HGNC:17004 03811 602307 VALIDATED 1601880 WWC1 WW and C2 domain containing 1 The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 5 q34 163754431 163934646 + 167719065 167899308 + 168292060 168472303 + 6480464;8554872 10048485;12477932;12559952;14702039;15081397;15489334;16169070;16484223;16684779;17010949;17043677;17053149;17353070;17707552;17994011;18029348;18190796;18194457;18205171;18378080;18596123;18672031;18789830;19058786;19397951;19606085;19804789;20125193;20150879;20185150;20379614;20509760;20691427;20881395;21173572;21185624;21204039;21233212;21346737;21497093;21643791;21878642;21900206;21943600;21976506;22129841;22430796;22614006;22699663;22784093;22794909;22904328;22948661;23065961;23163744;23266749;23778582;23926262;24072042;24190487;24255178;24269383;8889548 23286 H0YAU4;H0YBE8;H3BLZ3;Q8IX03 AB020676;ABBA01044126;ABBA01044127;ABBA01044128;ABBA01044129;ABBA01044130;ABBA01044131;AC020894;AC026689;AF506799;AF530058;AK001727;AK027022;AK126376;AK296323;AMYH02012698;AY189820;BC004394;BC017746;BC038463;BC042553;BX640827;CA313640;CH471062;DR001014;JC181853;JC232144;NG_016712;NM_001161661;NM_001161662;NM_015238;XM_005265850;XM_005265851;XM_005265852;XM_005265853;XM_006714835;XM_006714836 AAH04394;AAH17746;AAH42553;AAI56528;AAI72519;AAO15881;AAO73817;AAQ09942;BAA74892;BAG54317;BAG59017;CAE45903;CDM21935;CDM22293;EAW61508;EAW61509;EAW61510;NP_001155133;NP_001155134;NP_056053;Q8IX03;XP_005265907;XP_005265908;XP_005265909;XP_005265910;XP_006714898;XP_006714899 Hs.484047 1336874;1337129;1654278;1654547;1659214;1684325;1688526;1722879;1740509;1754939;1762321;1765819;1770393;1785462;2120863;2125666;2129647;2133422;2136302;5015404;5016478;5024413;5037552 A008Y41;D5S1651E;D5S1974;D5S2299E;D5S2709;D5S671;D8S2279;G60534;GDB:434012;L17705;L17877;RH12681;RH46531;RH48307;RH98746;SGC34514;SGC38213;SHGC-141859;SHGC-146166;SHGC-149247;SHGC-149466;SHGC-1819;WI-16909 FLJ10865;FLJ23369;HBEBP3;HBEBP36;KIAA0869;PPP1R168 HBeAg-binding protein 3;KIBRA;MEMRYQTL;OTTHUMP00000160959;OTTHUMP00000222978;OTTHUMP00000222979;OTTHUMP00000223030;WW, C2 and coiled-coil domain containing 1;kidney and brain protein APPROVED protein-coding ENSG00000113645 HGNC:29435 10033 610533;615602 REVIEWED 1349820 WWTR1 WW domain containing transcription regulator 1 ENCODES a protein that exhibits transcription coactivator activity; INVOLVED IN hippo signaling; negative regulation of canonical Wnt signaling pathway; negative regulation of catenin import into nucleus; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 17beta-estradiol; 4-phenylbutyric acid; 5-azacytidine 3 3 3 q23-q24 147646975 147833799 - 149235022 149421060 - 149517235 149703273 - 1580863;6480464;8554872 11118213;12477932;14702039;14970209;15096513;15489334;16099986;16189514;16300735;16344560;16964398;17927494;18029348;18227151;18374411;18413727;18568018;19010321;19324876;19324877;19460752;19538860;19542741;19948975;20049872;20164440;20850437;20858893;20936779;20972459;21131195;21189257;21224387;21349946;21555462;21584898;21654799;22045023;22078877;22108137;22190458;22234184;22429593;22470139;22481233;22692215;22717556;22825057;22895435;23022380;23026745;23245942;23258147;23551011;23727052;23954413;23959471;24093814 25937 C9J038;C9J337;C9J588;C9JQS8;C9JR84;H7C4Q0;H7C4Z7;Q9GZV5 ABBA01058941;ABBA01058942;ABBA01058943;AC012014;AC108672;AJ299431;AK022036;AK025216;AK127620;AK130514;AL050107;AL833852;AMYH02007884;AMYH02007885;AX878884;BC014052;CH471052;DA338432;DA760311;DA854089;NM_001168278;NM_001168280;NM_015472 AAH14052;ABM84304;ABM87698;BAB13957;CAB43275;CAC17722;CAD38711;CAE90288;EAW78868;EAW78869;NP_001161750;NP_001161752;NP_056287;Q9GZV5 Hs.477921 1651951;1695574;1718675;1719295;1793906;2108555;2133702;2165649;2175421;5022578;5037552 D1S1423;D3S3338;D8S2279;PMC305881P1;RH123028;RH123370;SHGC-53777;SHGC-68770;SHGC-77442;SHGC-77443;TAZ_8018 DKFZp586I1419;FLJ27004;FLJ45718;TAZ OTTHUMP00000215994;OTTHUMP00000215995;OTTHUMP00000215996;OTTHUMP00000216001;WW domain-containing transcription regulator protein 1;transcriptional co-activator with PDZ-binding motif;transcriptional coactivator with PDZ-binding motif protein-coding ENSG00000018408 HGNC:24042 09580 607392 VALIDATED 5132481 WWTR1-AS1 WWTR1 antisense RNA 1 3 3 3 q25.1 147685649 147788830 + 149375997 149379151 + 149658210 149661364 + 12477932 100128025 ABBA01058942;AC012014;AK130903;AK309441;AMYH02007885;BC041444;HG496173;NR_040250 Hs.594912;Hs.680428 1651951;2175421;5016478 D3S3338;GDB:434012;SHGC-77442 FLJ27393;RP11-255N4.2 APPROVED ncrna ENSG00000241313 HGNC:41035 VALIDATED 1342496 XAB2 XPA binding protein 2 INVOLVED IN transcription, DNA-templated; transcription-coupled nucleotide-excision repair; PARTICIPATES IN nucleotide excision repair pathway; spliceosome pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN catalytic step 2 spliceosome; membrane; INTERACTS WITH 5-aza-2'-deoxycytidine; all-trans-retinoic acid; atrazine 19 19 19 p13.2 7555595 7565623 - 7684411 7694439 - 7619525 7629553 - 1580863;6480464;6907045;7246919;8554872 22824526 10574461;10944529;11313499;11991638;12421765;12477932;14702039;15231748;15489334;15498874;16189514;16916636;17289029;17981804;18854154;19471022;19946888;20360068;20508642;20522537;21145461;21252943;21890473;21906983;21963094;22365833;22446626;22505724;22586326;22939629;23000965;23084401;23752268;24457600;24550385;24816145;25027693 56949 Q9HCS7 AB026111;AB033003;ABBA01010894;AC008763;AF226051;AF258567;AF272147;AF547265;AK025858;AK074035;AMYH02035403;BC007208;BC008778;CH471139;CR749864;NM_020196 AAF86951;AAG23770;AAH07208;AAH08778;AAN17847;AAQ14304;ABM84113;ABM87507;BAA86491;BAB15807;BAB84861;CAH18708;EAW69022;EAW69023;EAW69024;NP_064581;Q9HCS7 Hs.9822 1734678 D19S684E DKFZp762C1015;HCNP;HCRN;NTC90;SYF1 SYF1 homolog, RNA splicing factor;SYF1 pre-mRNA-splicing factor;XPA-binding protein 2;crn-related protein kim1;pre-mRNA-splicing factor SYF1 protein-coding ENSG00000076924 HGNC:14089 18306 610850 VALIDATED 1606793 XAF1 XIAP associated factor 1 This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 17 17 17 p13.1 6684938 6704750 + 6658716 6678966 + 6755837 6775647 + 6480464 11087668;11175744;12029096;12107411;12477932;14612497;14702039;15610524;16303760;16343440;16353137;16459719;16801630;16909101;17087954;17331366;17376236;17449173;17471152;17570219;17613533;17884799;18035482;18192275;18250043;18362468;18555708;18830757;18979398;19056926;19358264;19397802;19549372;19628579;19664236;19731821;19847196;19922503;20198350;21143993;21678496;21832049;22088514;22719195;22759793;22811387;22944270;23207547;23333304;23645206;23645777;24249729 54739 B3KPW1;C9J7Z8;I3L2B3;I3L3B3;I3L3D9;I3L3Q2;I3L509;I3L534;Q6GPH4 ABBA01054838;AC034305;AK056908;AK091799;AK290276;AK292710;AK292848;AMYH02032877;BC032776;BC058017;BC073156;BM153640;BM459605;BM475564;BQ639060;BX648588;BX649188;CH471108;EF028165;EF028166;NM_017523;NM_199139;NR_046396;NR_046397;NR_046398;X99699;XM_005256706;XM_005256707;XM_005256708;XM_006721550;XM_006721551;XM_006721552;XR_429816;XR_429817 AAH32776;AAH73156;ABM74556;ABM74557;BAF82965;BAF85399;BAF85537;BAG51823;CAA68030;CAE46206;EAW90287;EAW90288;EAW90289;EAW90290;EAW90291;NP_059993;NP_954590;Q6GPH4;XP_005256763;XP_005256764;XP_005256765;XP_006721613;XP_006721614;XP_006721615 Hs.441975 1660238;5015961;5018953;5022450;5037552;5124034 D10S275;D15S1477;D8S2279;G42236;RH48221;RH71308 BIRC4BP;HSXIAPAF1;XIAPAF1 BIRC4 binding protein;BIRC4-binding protein;XIAP-associated factor 1 APPROVED protein-coding ENSG00000132530 HGNC:30932 06978 606717 VALIDATED 1606029 XAGE1A X antigen family, member 1A This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] X p11.22 52255219 52260363 - 6480464 10197611;10987281;11774264;11992404;12479262;14696120;14747957;15800911;15905609;16061866;16468707;16715135;17332921;17335148;17666327;17704638;18045611;18752338;18803763;19498007;20178013;20704819;21305256;21413013;23625514 653219 AF251237;AJ290447;AJ318878;AJ318879;AJ400997;AX455517;BC009538;BT007099;BX088602;CS134500;NM_001097592;NM_001097593;NR_033253;XM_005262043 AAG01401;AAH09538;AAP35763;CAC38107;CAC38108;CAC82986;CAC82987;CAD38240;CAJ21130;NP_001091061;NP_001091062;Q9HD64;XP_005262100 Hs.112208;Hs.546096;Hs.584511 CT12.1;CT12.1a;CTP9;GAGED2;XAGE-1;XAGE1;XAGE1B;XAGE1C;XAGE1D;XAGE1E G antigen family D member 2;G antigen, family D, 2;OTTHUMP00000023312;OTTHUMP00000042363;X antigen family member 1;cancer/testis antigen 12.1;cancer/testis antigen family 12, member 1a;cancer/testis associated protein APPROVED protein-coding ENSG00000204379 HGNC:4111 300742 REVIEWED 1625833 XAGE1B X antigen family, member 1B This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] X X X p11.22 995 6131 - 52238810 52243954 + 52495668 52500812 + 6480464 10197611;10987281;11774264;11992404;12479262;14696120;14747957;15800911;15905609;16061866;16468707;16715135;17332921;17335148;17666327;17704638;18045611;18752338;18803763;19498007;20178013;20704819;21305256;21413013;23625514;24008415;24304136 653220 Q9HD64 AF251237;AJ290447;AJ318878;AJ318879;BC009538;BT007099;BX088602;BX510359;CS134500;NM_001097594;NM_001097596;NR_033254;XM_006724597;XM_006724598 AAG01401;AAH09538;AAP35763;CAC38107;CAC82986;CAC82987;CAJ21130;NP_001091063;NP_001091065;Q9HD64;XP_006724660;XP_006724661 Hs.112208;Hs.546096;Hs.584511 CT12.1;CT12.1A;CT12.1b;CTP9;GAGED2;XAGE-1;XAGE1;XAGE1A;XAGE1C;XAGE1D;XAGE1E;XAGE1E. G antigen family D member 2;OTTHUMP00000039566;OTTHUMP00000039567;OTTHUMP00000224391;X antigen family member 1;X antigen family, member 1A;cancer/testis antigen 12.1;cancer/testis antigen family 12, member 1a;cancer/testis antigen family 12, member 1b;cancer/testis associated protein APPROVED protein-coding ENSG00000204379 HGNC:25400 300742;300743 REVIEWED 1320797 WWP2 WW domain containing E3 ubiquitin protein ligase 2 This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012] 16 16 16 q22.1 54311024 54490955 + 69796187 69975644 + 69762284 69941741 + 6480464;6907045 11046148;11244092;11748237;12167593;12450395;12477932;15047715;15231748;15252135;15489334;15548568;15717329;16189514;16344560;16713569;16964243;17289006;17526739;17719543;18570872;18729074;18776082;19144635;19158374;19274063;19307600;19343052;19366705;19651900;19946888;20379614;20522958;21139048;21145461;21191027;21258410;21532586;21555855;21572392;21750408;21847096;21890473;21956701;22315426;22387393;22427670;22496338;22773947;22939629;22948661;23146381;23236378;23644597;23651516;23938591;24063548;24365151;24457600;24850914;25092867;9169421;9595660;9647693 11060 B4DHF6;H3BPJ8;H3BRX8;H3BS79;O00308 ABBA01025540;ABBA01025541;ABBA01025542;ABBA01025543;ABBA01025544;ABBA01025545;ABBA01025546;ABBA01025547;AC026468;AC092115;AI494370;AI635734;AJ001982;AK126332;AK295070;AK295701;AK300266;AK312792;AK316097;AL527115;AL583085;AMYH02032288;AMYH02032289;AMYH02032290;AMYH02032291;AMYH02032292;BC000108;BC013645;BC064531;BQ183829;BU167468;BX372347;CH471092;DB288556;DC402912;JN712744;NM_001270453;NM_001270454;NM_001270455;NM_007014;NM_199424;U96114;XM_005255778 AAC51325;AAH00108;AAH13645;AAH64531;ABM82100;ABM85282;AFK29253;BAC86528;BAG35653;BAG58117;BAG58549;BAG62027;BAH14468;EAW83287;EAW83288;EAW83289;NP_001257382;NP_001257383;NP_001257384;NP_008945;NP_955456;O00308;XP_005255835 Hs.408458 1340159;1779682;2185672;2187565;2187809 D16S3095;G69462;RH68624;RH69974;SHGC-153661 AIP2;WWp2-like NEDD4-like E3 ubiquitin-protein ligase WWP2;Nedd-4-like ubiquitin-protein ligase;OTTHUMP00000174895;WW domain-containing protein 2;atrophin-1 interacting protein 2;atrophin-1-interacting protein 2 APPROVED protein-coding ENSG00000198373 HGNC:16804 03812 602308 REVIEWED 1320534 WWOX WW domain containing oxidoreductase This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] 16 16 16 q23 62433225 63546286 + 78133310 79246567 + 78099430 79212667 + 1599874;6480464;7240710;8699517;8554872 11956080 10786676;10861292;11058590;11572989;11719429;12477932;12514174;14526170;14695174;14965474;15026124;15044096;15064722;15070730;15073125;15073846;15126504;15131042;15266310;15345747;15489334;15548692;15580310;15674328;15761153;15798093;15982416;15998374;16055720;16061658;16115915;16152610;16219768;16223882;16288044;16344560;16360296;16438931;16818616;16941225;17163164;17178850;17200365;17289881;17609426;17704139;17909041;17947476;18047428;18061530;18273838;18365142;18371080;18452537;18460020;18487609;18620777;18629536;18674750;19027726;19035517;19047365;19087571;19130459;19144635;19188760;19352382;19366691;19434452;19458077;19465938;19484134;19584346;19708029;19844255;19896763;19950548;19957554;20060354;20074932;20146584;20367991;20379614;20401669;20480411;20510001;20530675;20535528;20556583;20737170;20800603;20923822;20942981;21107309;21138684;21139048;21165567;21276135;21332605;21347750;21466786;21476439;21499303;21520031;21552555;21612698;21685375;21767287;21906983;21946350;21983861;22158537;22193544;22202011;22213016;22226915;22248280;22317867;22412018;22479346;22484428;22505724;22555346;22584572;22634283;22693020;22717556;22736928;22842668;22869583;22898080;22952603;23030478;23197378;23284291;23319000;23339925;23370280;23381945;23446842;23525362;23525648;23566416;23568457;23675860;23765596;23770367;23824713;24008736;24044959;24126431;24127039;24299313;24308844;24322204;24330518;24330824;24369382;24393846;24520212;24550385;24585490;24648952;24816145 51741 F5H3R5;H3BMD1;Q9NZC7 ABBA01017012;ABBA01017013;ABBA01017014;ABBA01017015;ABBA01017016;ABBA01017017;ABBA01017018;ABBA01017019;ABBA01017020;ABBA01017021;ABBA01017022;ABBA01017023;ABBA01017024;ABBA01017025;ABBA01017026;AC009044;AC009141;AC009145;AC027279;AC046158;AC079414;AC092376;AC106743;AC109134;AC136603;AF187015;AF211943;AF212843;AF227526;AF227527;AF227528;AF227529;AF325423;AF325429;AF325432;AF395123;AF395124;AK027626;AK290438;AK291300;AK298322;AMYH02032437;AMYH02032438;AMYH02032439;AMYH02032440;AMYH02032441;AMYH02032442;AMYH02032443;AMYH02032444;AMYH02032445;AMYH02032446;AMYH02032447;AMYH02032448;AMYH02032449;AMYH02032450;AMYH02032451;AMYH02032452;AMYH02032453;AMYH02032454;AMYH02032455;AMYH02032456;AMYH02032457;AMYH02032458;AMYH02032459;AMYH02032460;AMYH02032461;AMYH02032462;AMYH02032463;AMYH02032464;AMYH02032465;AMYH02032466;AMYH02032467;AMYH02032468;AMYH02032469;AW874692;AW874693;AY256821;BC003184;BT007445;BU157392;CH471114;DB035405;NG_011698;NM_001291997;NM_016373;NM_130791;NM_130844;NR_120435;NR_120436;U13395;XM_006721195;XR_243411 AAA21465;AAF27049;AAF27050;AAF31694;AAF82053;AAF82054;AAF82055;AAF82056;AAH03184;AAK81727;AAK81728;AAL05449;AAL05450;AAL05451;AAP36113;AAP94227;BAF83127;BAF83989;BAG51361;BAG60575;EAW95579;EAW95580;NP_001278926;NP_057457;NP_570607;NP_570859;Q9NZC7;XP_006721258 Hs.461453 1298258;1336413;1337693;1337881;1339251;1341069;1341106;1655178;1657874;1665206;1677860;1679734;1686230;1686534;1689510;1694592;1715765;1717485;1721361;1721705;1721735;1723089;1725339;1730225;1736578;1738485;1738505;1738585;1738703;1738731;1738773;1749669;1755743;1758041;1759399;1763699;1764319;1766881;1776029;1777854;1778929;1783326;1783366;1783420;1847093;1853919;1856734;2117601;2118819;2119808;2121782;2132701;2143564;2147576;2158543;2159226;2170860;2175532;2180827;2182189;5017671;5093104;5094368;5094743;5094745;5107597;5108747;5121783;7186290;7187440;7187563 A009G06;A336YG9;AF007377;AFM350VD1;D14S164;D16S2571E;D16S2683;D16S2694;D16S2742;D16S2812;D16S2830;D16S2854;D16S2957;D16S3029;D16S3049;D16S3096;D16S3213;D16S3307;D16S3324;D16S3344;D16S435E;D16S504;D16S516;D16S518;D16S684;G15863;G19118;G29254;G32522;G43289;G54637;G59680;G59715;G59732;MFD466-TTA;RH11464;RH118987;RH119330;RH120880;RH12208;RH122248;RH15657;RH27913;RH65116;RH65187;RH65206;RH65299;RH69741;RH70047;RH70328;RH78191;SHGC-111352;SHGC-111467;SHGC-142593;SHGC-147192;SHGC-147374;SHGC-147929;SHGC-147930;SHGC-151189;SHGC-152307;SHGC-155340;SHGC-36289;SHGC-60733;SHGC-60781;STS-AA010189;STS-T69772;U48593;UMNe096 D16S432E;FOR;FRA16D;HHCMA56;PRO0128;SCAR12;SDR41C1;WOX1 WW domain-containing oxidoreductase;WW domain-containing protein WWOX;fragile site FRA16D oxidoreductase;short chain dehydrogenase/reductase family 41C, member 1 APPROVED protein-coding ENSG00000186153 HGNC:12799 05501 133239;605131;614322 REVIEWED 69122 WT1 Wilms tumor 1 This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilm's tumors. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation site upstream of and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Oct 2010] 11 11 11 p13 32556060 32603819 - 32408789 32457104 - 32387775 32435535 - 1331525;1580623;1580624;1580863;2315543;2315539;2315541;2315542;2315545;2315544;6480464;7240710;8554872;8699517 12161615;12914969;1316081;15118671;19407365;19443388;19543245;19856421;8381965 10101119;10490105;10571943;10744705;10838070;11001926;11182928;11237525;11278547;11595161;11738793;11889045;11912180;11919196;11933209;11939727;11960373;11986946;12070003;12111123;12127961;12133898;12151099;12199781;12200377;12213901;12239212;12411326;12444079;12471221;12477932;12665546;12681485;12761165;12802290;12824878;12824921;12829997;12841384;12841869;12901797;12960088;12961083;12970737;1302008;1313285;1317572;1332065;1338906;14603255;14666652;14681303;14701728;14702039;14736876;14767530;14962262;14988020;14988155;15084838;15150775;15223639;15253707;15266301;15286719;15297187;15339675;15365188;15483024;15489334;15504250;15504938;15506928;15510596;15518539;15520190;15534117;15538407;15540161;15661271;15674342;15687485;15696971;1572653;15780077;15838390;15845894;15878620;15894924;15927676;15957141;15961562;15982325;16087727;16260903;16467207;16502587;16518414;1654525;1655284;16554811;1658787;1662794;1671709;16780544;16828156;16857797;16876863;16883592;16909243;16920711;16924231;16927106;16934801;16966277;16987884;16990584;17160023;17205055;17206472;17210670;17216259;17371932;17487399;17496156;17508006;17524167;17531467;17540436;17541636;17551084;17579045;17599043;17605875;17630404;17665418;17688410;17706117;17716689;17721194;17728783;17803653;17848411;17853480;17869219;17886559;17912546;17934764;17939399;17940140;17947653;17956689;17972942;18034345;18042071;18058136;18064385;18064689;18065803;18081724;18094593;18181329;18202757;18212735;18231640;18231915;18255279;18260155;18271004;18273617;18292948;18311776;18371184;18385267;18424770;18425046;18443273;18464243;18466223;18469795;18516627;18528287;18559874;18590714;18591546;18604725;18618575;18644985;18666806;18688870;18703217;18708366;18722603;18751389;18752126;18756326;18801058;18929401;18950857;18972317;19017365;19050011;19067769;19097357;19099861;19120973;19137020;19141860;19169475;19171881;19190340;19205749;19212333;19221039;19236519;19250757;19321755;19322206;19351817;19404640;19416806;19437143;19447967;19494353;19536888;19549856;19578047;19605546;19615003;19618455;19638168;19730683;19747485;19749460;19752335;19776535;19811333;19817904;19847202;19951528;20013787;20016532;20025481;20038731;20092642;20122399;20150449;20174665;20204298;20301471;20301533;20301534;20332316;20368469;20368538;20376582;20379614;20412098;20413658;20435628;20442368;20442690;20450766;20507940;20561402;20591825;20592250;20595692;20619105;20619457;20644087;20651072;20678218;20736771;20842112;20849384;20861915;20871039;20880116;20885852;20959405;20971509;20972333;20974136;21057459;21097671;21135860;21189373;21189390;21209057;21256590;21269271;21269566;21344764;21378168;21390327;21447831;21499692;21504297;21508141;2154335;2154702;21607557;21643023;21658388;21659357;21673345;21697701;21710692;2173145;21734473;21760594;21798259;21804407;21851196;21867623;21888469;21896989;21898091;21900206;21909685;21942328;21967832;21980157;21985433;21988832;22015946;22030397;22040952;22093791;22148937;22152856;22172722;22238403;22242671;22246978;22261458;22276610;22306650;22313360;22382985;22391154;22415091;22434317;22506617;22510877;22555024;22558480;22585769;22623625;22672247;22673530;22688351;22796116;22797561;22800892;22875062;22876585;22895555;22898820;22915059;22925896;22939983;23042785;23070125;23110324;23110703;23111196;23142971;23207289;23298185;23338265;23362234;23392705;23394625;23403166;23460320;23480492;23484026;23517654;23544132;23550799;23550990;23554000;23584566;23672350;23699597;23706170;23715653;23788249;23832418;23871158;23874238;23898100;23936312;23945386;23956224;23979985;24057671;24161391;24190574;24211094;24257751;24265486;24321497;24338413;24373193;24393438;24405639;24413855;24503796;24596380;24607494;24633336;24778040;24894814;24927120;6088386;7585606;7588596;7720589;7731725;7856737;7862533;7862627;7926762;8012395;8086342;8098976;8112732;8119964;8290269;8295405;8306891;8388765;8389468;8393820;8401592;8414514;8621495;8798754;8943350;8956030;9006935;9108089;9178767;9361029;9366517;9475094;9529364;9553041;9556563;9765217;9784496;9815658 7490 E9PKS2;E9PPW3;H0Y3F0;H0Y7K5;H0YED9;J3KNN9;P19544;Q6PI38 ABBA01060912;AK093168;AK291736;AL049692;AMYH02024556;AMYH02024557;AY245105;BC032861;BC046461;BG718348;CH471064;M30393;M80217;M80232;NG_009272;NM_000378;NM_001198551;NM_001198552;NM_024424;NM_024426;S60755;S61515;S74529;S75264;S77896;U06486;U77682;X51630;X61631;X72314;X74840;X77549 AAA36810;AAA61299;AAA62865;AAB20110;AAB33427;AAB33443;AAC60605;AAD14879;AAH32861;AAH46461;AAO61088;ADZ15874;BAF84425;BAG52667;CAA35956;CAA43819;CAA51057;EAW68220;EAW68221;EAW68222;EAW68223;EAW68224;EAW68225;EAW68226;NP_000369;NP_001185480;NP_001185481;NP_077742;NP_077744;P19544 Hs.591980 1662664;1664674;1721327;1737895;1741225;1741901;1743031;1743033;1743035;1743037;1743039;1743041;1743043;1743419;1743737;1743739;1743741;1743743;1743745;1743747;1743749;1743751;1743753;1743755;1743757;1743759;1743761;1743763;1743765;1743767;1744531;1744533;1745171;1745173;1745175;1745177;1745181;1790317;1793286;1797040;2179707;5016498;5094152;5120369;5120457;5120714;5125946;5491352;7188331 D11S3501;D11S813E;G15888;G54575;G59663;GDB:178695;GDB:186603;GDB:250580;GDB:250581;GDB:250582;GDB:250583;GDB:250584;GDB:250585;GDB:250586;GDB:313098;GDB:316182;GDB:316186;GDB:371622;GDB:371627;GDB:371630;GDB:371633;GDB:371636;GDB:371639;GDB:371642;GDB:371645;GDB:371654;GDB:371660;GDB:371667;GDB:371670;GDB:371673;GDB:371676;GDB:371679;GDB:371682;GDB:371686;GDB:512306;GDB:512315;GDB:568832;GDB:595974;GDB:595983;GDB:595991;GDB:596004;GDB:596045;PMC20552P1;RH18097;UniSTS:148287;WT;WT1;WT1-2;WT1_1108 AWT1;EWS-WT1;GUD;NPHS4;WAGR;WIT-2;WT33 OTTHUMP00000037553;OTTHUMP00000037554;OTTHUMP00000037555;OTTHUMP00000037556;OTTHUMP00000238018;Wilms tumor protein;amino-terminal domain of EWS|last three zinc fingers of the DNA-binding domain of WT1 APPROVED protein-coding ENSG00000184937 HGNC:12796 06163 136680;156240;194070;194080;256370;607102;608978 REVIEWED 1625844 XAGE1C X antigen family, member 1C This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] X p11.22 52511761 52516905 + 10197611;10987281;11774264;11992404;12479262;14696120;14747957;15800911;15905609;16061866;16468707;16715135;17332921;17335148;17666327;17704638;18045611;18752338;18803763;19498007;20704819;21139048;21305256;21413013;21906983;23000965 653048 ABBA01146537;AF251237;AJ290447;AJ318878;AJ318879;AL772246;AMYH02039395;AX455515;BC009538;BT007099;NM_001097597;NM_001097598;NR_033251 AAG01401;AAH09538;AAP35763;CAC38107;CAC82986;CAC82987;CAD38238;CAI41526;CAI41527;CAI41528;NP_001091066;NP_001091067;Q9HD64 Hs.112208;Hs.546096;Hs.584511 CT12.1;CT12.1C;CTP9;GAGED2;XAGE-1;XAGE1A;XAGE1B;XAGE1D;XAGE1E G antigen family D member 2;OTTHUMP00000023314;OTTHUMP00000042365;X antigen family member 1;cancer/testis antigen 12.1;cancer/testis antigen family 12, member 1c;cancer/testis associated protein APPROVED protein-coding ENSG00000183461 HGNC:30679 300744 REVIEWED 1350959 XAGE2 X antigen family, member 2 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in normal testis, and in Ewing's sarcoma, rhabdomyosarcoma, a breast cancer and a germ cell tumor. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008] X X X p11.22 55607877 55614622 - 52111931 52118826 + 52368788 52375683 + 6480464 10197611;11181995;11992404;12477932;15489334;15772651;16189514;21044950 9502 Q96GT9 ABBA01048028;ABBA01048029;AC231759;AI740470;AJ318880;AJ318891;AX359705;BC009232;BC066311;BX293536;H53211;NM_130777;XM_006724614 AAH09232;AAH66311;ABM84073;ABM87441;CAC83007;CAC88125;CAD23342;NP_570133;Q96GT9;XP_006724677 Hs.409726;Hs.522654 1857119 RH68333 CT12.2;GAGED3;XAGE-2;XAGE2B G antigen family D member 3;G antigen, family D, 3;OTTHUMP00000023313;X antigen family member 2;X antigen family, member 2B;cancer/testis antigen 12.2;cancer/testis antigen family 12, member 2 APPROVED protein-coding ENSG00000155622 HGNC:4112 02332 300416 REVIEWED 1642398 XAGE1D X antigen family, member 1D This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] X p11.22 52528159 52533303 - 6480464 10197611;10987281;11774264;11992404;12477932;12479262;14696120;14747957;15489334;15772651;15800911;15905609;16061866;16468707;16715135;17332921;17335148;17666327;17704638;18045611;18752338;18803763;19498007;20704819;21139048;21305256;21413013;22990118;23000965 9503 AF251237;AJ290447;AJ318878;AJ318879;AL772246;BC009538;BT007099;CS134502;NG_029951;NM_020411;NM_133430;NR_033256 AAG01401;AAH09538;AAI60078;AAP35763;CAC38107;CAC82986;CAC82987;CAI41530;CAI41531;CAJ21131;NP_065144;NP_597673;Q9HD64 Hs.112208;Hs.584511 CT12.1;CT12.1d;CTP9;XAGE1A;XAGE1B;XAGE1C;XAGE1E G antigen family D member 2;OTTHUMP00000023315;OTTHUMP00000218307;X antigen family member 1;cancer/testis antigen 12.1;cancer/testis antigen family 12, member 1d;cancer/testis associated protein;protein XAGE-1 APPROVED protein-coding ENSG00000204376 HGNC:21508 02241 300289 REVIEWED 1625843 XAGE1E X antigen family, member 1E This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] X X X p11.22 995 6131 - 52541053 52546197 - 52512077 52517221 - 6480464 10197611;10987281;11774264;11992404;12477932;12479262;14696120;14747957;15489334;15772651;15800911;15905609;16061866;16468707;16715135;17332921;17335148;17666327;17704638;18045611;18330356;18752338;18803763;19498007;20704819;21139048;21305256;21413013;21906983;22990118;23000965 653067 Q9HD64 AF251237;AJ290447;AJ318878;AJ318879;AL772246;AMYH02039403;BC009538;BT007099;BX510359;NG_029951;NM_001097597;NM_001097598;NM_001097604;NM_001097605;NM_020411;NR_033251;NR_033257;XM_006724595;XM_006724596;XM_006726846 AAG01401;AAH09538;AAI60078;AAP35763;CAC38107;CAC82986;CAC82987;CAI41526;CAI41527;CAI41528;CAI41530;CAI41531;CAI41532;CAI41533;CAI41534;NP_001091066;NP_001091067;NP_001091073;NP_001091074;NP_065144;Q9HD64;XP_006724658;XP_006724659;XP_006726909 Hs.112208;Hs.546096;Hs.584511 CT12.1;CT12.1C;CT12.1D;CT12.1E;CTP9;GAGED2;XAGE-1;XAGE1;XAGE1A;XAGE1B;XAGE1C;XAGE1D G antigen family D member 2;OTTHUMP00000023316;OTTHUMP00000042369;X antigen family member 1;X antigen family, member 1C;X antigen family, member 1D;cancer/testis antigen 12.1;cancer/testis antigen family 12, member 1c;cancer/testis antigen family 12, member 1d;cancer/testis antigen family 12, member 1e;cancer/testis associated protein APPROVED protein-coding ENSG00000204382 HGNC:18372 300289;300744;300745 REVIEWED 1353781 XAGE5 X antigen family, member 5 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008] X X X p11.22 56663775 56669869 + 52840366 52847325 + 52811342 52818298 + 737633;8554872 12477932 11992404;15489334;15772651 170627 Q3SY49;Q8WWM1 ABBA01056333;AC244505;AJ318894;AL445236;AMYH02039427;BC069129;BC103962;BC103963;BC103964;CH471283;NM_130775;XM_005261994 AAH69129;AAI03963;CAC83015;CAI41618;EAW57550;EAW57551;NP_570131;Q8WWM1;XP_005262051 Hs.356874 CT12.5;GAGED5;MGC119799;MGC119800;XAGE-5 G antigen family D member 5;G antigen, family D, 5;OTTHUMP00000023321;X antigen family member 5;cancer/testis antigen 12.5;cancer/testis antigen family 12, member 5 APPROVED protein-coding ENSG00000171405 HGNC:30930 06754 REVIEWED 1352765 XBP1P1 X-box binding protein 1 pseudogene 1 5 5 5 q22.2 108166391 108167931 + 112220838 112222378 + 112885141 112886681 + 10801852;12080057;14706819;1718857 7495 ABBA01069051;AC008536;AMYH02011979;NG_003037 XBP;XBP1;XBPP1 APPROVED pseudo HGNC:12802 INFERRED 1349076 XBX1 xylan 1,4-beta-xylosidase 1 p36.3 1580863 9653645 7496 O76044 U88969 AAC34952;O76044 protein-coding HGNC:12803 1353439 XCE X chromosome controlling element ASSOCIATED WITH ARTHROGRYPOSIS, DISTAL, TYPE 5D (inferred); X Inactivation, Familial Skewed, 1 (inferred) 7240710 5480753;8118102 7497 HGNC:12804 300074;300087;615065 1352787 XBP1 X-box binding protein 1 This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq, Jul 2008] 22 22 22 q12.1 12990518 12996530 - 29190548 29196560 - 28794560 28800572 - 1580863;2326004;6480464;6484113;6907045;7240710 15486293 10591208;10652269;11076863;11256614;11779464;11813207;12067985;12477932;12586069;12713871;12805554;12949534;12954762;14576841;14634507;14702039;15063770;15149721;15184063;15298659;15331160;15351732;15380296;15461802;15489334;15489336;15598891;15882996;15892135;15927087;15936534;16002735;16009131;16154272;16327981;16342282;16381901;16461360;16645094;16958950;17026957;17034899;17092596;1718857;17418411;17442311;17660348;17884689;17898050;17906960;17928342;17932454;18082745;18191223;18192112;18386815;18417469;18552212;18583979;18635891;18676680;18775308;18840095;18840627;19009018;1903538;19112081;19122331;19154631;19170196;19176362;19237300;19265690;19321437;19380033;19389935;19403667;19412428;19416856;19420237;19435892;19470730;19471022;19530237;19543371;19564049;19609461;19622636;19625176;19669932;19692168;19722195;19735688;19751410;19941857;19958799;20013084;20170659;20211142;20368688;20421453;20688044;20955178;20980528;21050047;21061914;21085187;21129256;21129257;21138464;21138840;21233347;21385877;21423203;21660045;21677677;21693764;21858728;21906983;21924241;2196176;21963094;22002058;22370484;22422988;22427205;22445760;22469468;22505724;22644804;22669460;22679299;22787145;22925926;22960999;23184933;2321018;23277279;23335490;23421912;23447676;23470653;23510626;23560553;23661758;23737521;23930139;24027308;24029229;24165480;24269637;24497562;24670641;24821775;24909686;8349596;8657566;9563853 7494 B1AHH1;B1AHH2;P17861 AB076383;AB076384;ABBA01055242;AK093842;AK292188;AK313761;AMYH02038193;BC000938;BC012841;BC015709;BI545390;CH471095;CR456611;L13850;M31627;NG_012266;NM_001079539;NM_005080;X55543;Z93930 AAA36031;AAH00938;AAH12841;AAH15709;ABM81915;ABM85091;BAB82981;BAB82982;BAF84877;CAA39149;CAG30497;CAK54638;CAK54937;CAL38516;EAW59763;EAW59764;EAW59765;NP_001073007;NP_005071;P17861 Hs.437638 1668946;1685403;1700564;2155934;2179338;2219758 D22S1031;DXS9738;RH103903;RH27882;STS-M31627;XBP1_3218 TREB5;XBP-1;XBP2 OTTHUMP00000199111;OTTHUMP00000199113;OTTHUMP00000199114;X-box-binding protein 1;tax-responsive element-binding protein 5 2315442 GLUCO141_H APPROVED protein-coding ENSG00000100219 HGNC:12801 01908 194355;612371 REVIEWED 2306250 XAGE2B X antigen family, member 2B X p11.22 52113158 52118734 + 10197611;11181995;11992404;15489334;15772651;16189514 728242 AC231532;AJ318880;AL953874;AX359705;BC009232;BC066311;CH471230;NM_001079538 AAH09232;AAH66311;CAC83007;CAD23342;CAI41681;EAW62883;EAW62884;NP_001073006;Q96GT9 Hs.522654 1857119 RH68333 CT12.2;XAGE-2;XAGE2 G antigen family D member 3;OTTHUMP00000023310;X antigen family member 2;X antigen family, member 2-like;cancer/testis antigen 12.2 protein-coding HGNC:30680 VALIDATED 1350360 XCL1 chemokine (C motif) ligand 1 This antimicrobial gene encodes a member of the chemokine superfamily. Chemokines function in inflammatory and immunological responses, inducing leukocyte migration and activation. The encoded protein is a member of the C-chemokine subfamily, retaining only two of four cysteines conserved in other chemokines, and is thought to be specifically chemotactic for T cells. This gene and a closely related family member are located on the long arm of chromosome 1. [provided by RefSeq, Sep 2014] 1 1 1 q23 141655651 141661108 + 168545711 168551315 + 168576473 168582077 + 1580863;6480464;8693304 9717977 10433555;10887101;11083865;11154210;11303872;11446740;11601972;11683588;11878903;11889129;12053063;12393716;12477932;12847680;12949249;14568926;14707146;14734774;15489334;15857508;16710414;16923584;17077010;17903295;18322986;18364395;18832695;18838386;19064610;19074885;19536175;19797511;20237496;20541533;21270681;24385911;7602097;7615002;7875320;7973732;8849694;8977329;9029087;9079718;9199871;9632725 6375 P47992 ABBA01047231;AL031736;AMYH02002108;BC069817;BC070309;BF433809;CH471067;D43768;D63790;NM_002995;U23772;X86474 AAC50164;AAH69817;AAH70309;BAA07825;BAA09859;CAA60198;EAW90828;NP_002986;P47992 Hs.546295 1680525;1706968;1797042;2134263 RH91674;SHGC-35495;SHGC-80982;XCL1_1110 ATAC;LPTN;LTN;SCM-1;SCM-1a;SCM1;SCM1A;SCYC1 OTTHUMP00000032498;SCM-1-alpha;XC chemokine ligand 1;c motif chemokine 1;cytokine SCM-1;lymphotactin;lymphotaxin;single cysteine motif 1a;small inducible cytokine subfamily C, member 1 (lymphotactin);small-inducible cytokine C1 APPROVED protein-coding ENSG00000143184 HGNC:10645 02595 600250 REVIEWED 1354104 XCL2 chemokine (C motif) ligand 2 ENCODES a protein that exhibits chemokine activity (inferred); INVOLVED IN blood circulation (inferred); cell chemotaxis (inferred); immune response (inferred); FOUND IN extracellular region (inferred); extracellular space (inferred); INTERACTS WITH 17beta-estradiol; 3-chlorophenol; calcitriol 1 1 1 q24.2 141619816 141623048 - 168510003 168513235 - 168540765 168543997 - 1580863;6480464 11181995;12477932;15340161;15489334;16710414;16754659;17763208;18618175;7875320;8849694;9632725 6846 Q9UBD3 ABBA01047231;AL031736;AMYH02002108;BC069360;BC070308;BE218461;CD521967;CH471067;D63789;NM_003175 AAH69360;AAH70308;BAA09858;EAW90827;NP_003166;Q9UBD3 Hs.458346 1680525;2134263 RH91674;SHGC-35495 SCM-1b;SCM1B;SCYC2 OTTHUMP00000032499;XC chemokine ligand 2;c motif chemokine 2;cytokine SCM-1 beta;small inducible cytokine subfamily C, member 2 protein-coding ENSG00000143185 HGNC:10646 05317 604828 VALIDATED 1322962 XCR1 chemokine (C motif) receptor 1 The protein encoded by this gene is a chemokine receptor belonging to the G protein-coupled receptor superfamily. The family members are characterized by the presence of 7 transmembrane domains and numerous conserved amino acids. This receptor is most closely related to RBS11 and the MIP1-alpha/RANTES receptor. It transduces a signal by increasing the intracellular calcium ions level. The viral macrophage inflammatory protein-II is an antagonist of this receptor and blocks signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 45999653 46006341 - 46062291 46068979 - 46020799 46027487 - 1580863;6480464;8554872 10400311;10679309;10702689;11446740;12477932;15489334;15777643;16754659;17135764;17403668;18426556;20237496;20479115;20479118;20541533;21411777;21514207;21948982;22964431;7683036;7832990;9632725 2829 P46094;Q502V0;Q689E2 AB189434;AB189435;ABBA01024719;AC099782;AC133140;AK314277;AMYH02006668;AY275469;BC069075;BC069589;BC095533;CH471055;L36149;NM_001024644;NM_005283 AAA62837;AAH69075;AAH69589;AAH95533;AAP32301;BAD38891;BAD38892;BAG36937;EAW64755;NP_001019815;NP_005274;P46094 Hs.248116 1655813;1660610;1735260;1792064;5492383 D3S2919E;D3S3411;PMC135988P13;SHGC-76898;UniSTS:480894 CCXCR1;GPR5 G protein-coupled receptor 5;G-protein coupled receptor 5;OTTHUMP00000164652;OTTHUMP00000209999;XC chemokine receptor 1;chemokine (C motif) XC receptor 1;chemokine XC receptor 1;lymphotactin receptor APPROVED protein-coding HGNC:1625 02774 600552 REVIEWED 1353420 XGR expression of XG and MIC2 on erythrocytes ASSOCIATED WITH Abnormality of blood and blood-forming tissues (inferred); Neoplasm (inferred) 8699517 7501 HGNC:12808 314705;489500 1602009 XGY1 Xg pseudogene, Y-linked 1 X Y Y q11.21 1582514 1599148 - 14596277 14619148 - 12484477 12507346 - 12815422;7633446 7500 ABBA01065642;ABBA01065643;ABBA01065644;AC004617;AC245170;NG_005784 XGPY;XGPY1 APPROVED pseudo HGNC:12807 INFERRED 2292082 XGY2 Xg pseudogene, Y-linked 2 X Y Y p11.31 6950786 6973473 + 2620337 2643037 + 2752296 2774996 + 7633446;8054981 100132596 AC006209;NR_003254;Z48518;Z48519 Hs.179675 1746049;2123497;2135669;2166537;2166539;2188099;5021816;5115936;5115938;5116244;5116278;5116306 DXYF134S1;DYS148;DYS389;G49201;G66055;SHGC-12992;sY1743;sY1744;sY2841;sY2864;sY2884;sY2885 XG;XGPY;XGPY2 APPROVED pseudo HGNC:34022 PROVISIONAL 1348452 XDH xanthine dehydrogenase Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014] 2 2 2 p23.1 31399873 31481045 - 31557188 31637611 - 31334322 31414745 - 1624377;1580863;5135059;6480464;6907045;7240710;7247633;7247638;7247655;7247657;7247699;7247637;7247639;7247641;7247647;7247642;7247644;7247645;7247643;7247648;7247651;7247636;7247700;7247656;7247630;7247631;7247654;7247653;7247695;7247701;7247640;7247697;7247698;7247649;7247650;8554872;8699517 14728722;17697859;179860;18539378;18629585;18712049;18728266;19458127;19628223;19667249;19751566;20087949;20616412;21719783;22302365;22350467;22436129;22571266;22622455;22690247;22856880;22995295;23024809;23137955;23192770;23403765;23746952;23751350;23769121;23843977;9153281 10968141;11034305;11960915;11993848;12080414;12168784;12456835;12637268;12774669;14761964;15451061;16502470;16758302;16935971;17081983;17301077;17523077;17622935;17906999;18300946;18386220;18569334;18635756;18649358;18678861;18767115;18772145;18775690;18818408;18821156;18823306;18840375;19196876;19423540;19500084;19505917;19531472;19539448;19567609;19628957;19693777;19765958;19898482;20077140;20346360;20360068;20406964;20438785;20570389;20930425;21059659;21139048;21150319;21382276;21644044;21775420;21826556;21963464;22029190;22044687;22105431;22168506;22266962;22495427;22678977;22981351;23142692;23249873;23251661;23315321;23340314;23597150;23819009;23892358;24024171;24357442;25185415;7575623;7829092;7956358;7956361;8135849;8224915;8373410;8661045;8670112;8829220;9023782;9388748 7498 P47989;Q9UH91 ABBA01074853;ABBA01074854;ABBA01074855;AC010743;AF203979;AK130114;AL121654;AL121657;AMYH02003525;AMYH02003526;AMYH02003527;CH471053;CV574002;D11456;DQ089481;FB789768;FB794693;FB798940;FB811711;FB848246;FB866508;FB885374;FB890761;FB896521;GN364796;HB659827;HB664752;HB668999;HB681770;HB718305;HB736567;HB755433;HB760820;HB766580;KF456645;NG_008871;NM_000379;U06117;U39487 AAA75287;AAB08399;AAF15890;AAI66696;AAX76512;AAY68219;BAA02013;CAW36700;CAW39049;CAW41215;CAW47231;CAW63651;CAW71881;CAW80373;CAW82865;CAW86283;CAY77138;CBC02653;CBC04906;CBC06866;CBC13019;CBC45853;CBC62270;CBC79202;CBC84152;CBC89109;EAX00479;NP_000370;P47989 Hs.250 1339200;1773600;1787798;2107775;2150985;5014051;5022200;5491820 D2S2203;D8S2278;L18426;SHGC-12567;SHGC-173237;WI-11213;XDH;XDH_7904 XO;XOR OTTHUMP00000125231;xanthene dehydrogenase;xanthine dehydrogenase/oxidase;xanthine oxidase;xanthine oxidoreductase APPROVED protein-coding ENSG00000158125 HGNC:12805 06363 278300;607633 REVIEWED 1348257 XAGE3 X antigen family, member 3 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is expressed in placenta and fetal liver/spleen, and may function in inhibiting cancer cell growth. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene generates 2 transcript variants differing in the 5' UTR. [provided by RefSeq, Jul 2008] X X X p11.22 56714096 56719656 - 52891557 52897119 - 52862528 52868088 - 10197611;11992404;12477932;15489334;15498874;15772651;17207965;23275563 170626 Q8WTP9 ABBA01056339;ABBA01056340;AC234031;AC244505;AF318372;AJ318881;AJ318893;AL445236;AMYH02039427;BC062680;CH471283;NM_130776;NM_133179 AAH62680;AAL55879;ADQ32023;CAC83008;CAC83014;CAI41615;EAW57548;EAW57549;NP_570132;NP_573440;Q8WTP9 Hs.43879 5020482 STS-N32547 CT12.3;CT12.3a;CT12.3b;GAGED4;MGC71925;PLAC6;XAGE-3;pp9012 G antigen family D member 4;G antigen, family D, 4;OTTHUMP00000023319;OTTHUMP00000023320;X antigen family member 3;cancer/testis antigen 12.3;cancer/testis antigen family 12, member 3a;cancer/testis antigen family 12, member 3b;placenta-specific 6;placenta-specific gene 6 protein APPROVED protein-coding ENSG00000171402 HGNC:14618 06676 300740 REVIEWED 1350745 XIC X chromosome inactivation center ASSOCIATED WITH X Inactivation, Familial Skewed, 1 (inferred) 7240710 1985270;6198418 7502 HGNC:12809 300087 1312413 XIRP1 xin actin-binding repeat containing 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cardiac muscle cell development (inferred); negative regulation of cell proliferation (inferred); regulation of membrane potential (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN fascia adherens (inferred); INTERACTS WITH 1,3-dinitrobenzene (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 3 3 3 p22.2 39166370 39175740 - 39224706 39234112 - 39183215 39192621 - 6480464;8554872 10021346;12203715;12477932;14702039;15454575;16631741;18029348;19151983;20657180;23115302;23333304;23985323;24225086 165904 Q702N8 ABBA01024810;AC092053;AJ271461;AJ626899;AJ626900;AK095941;AK096421;AK122723;AK126299;AL713648;AL831956;AL832020;AL832459;AMYH02006582;AY375160;BC127119;BC139782;BX648565;CH471055;CR749430;NM_001198621;NM_194293;XM_005264909 AAI27120;AAI39783;AAI72374;AAQ64003;BAC04655;BAC04783;BAC86519;BAG53689;CAC81057;CAD28459;CAF25191;CAF25192;CAH18268;EAW64572;EAW64573;EAW64574;NP_001185550;NP_919269;Q702N8;XP_005264966 Hs.447868;Hs.737550 1334555;1680347;1735152;1735170;2218390 CMYA1_4597;D3S2809E;D3S2819E;D3S3593;RH92668 CMYA1;DKFZp451D042;DKFZp779C1255;DKFZp779C1947;Xin OTTHUMP00000161971;OTTHUMP00000208992;OTTHUMP00000209004;cardiomyopathy associated 1;cardiomyopathy-associated protein 1;xin actin-binding repeat-containing protein 1 protein-coding ENSG00000168334 HGNC:14301 16727 609777 PROVISIONAL 6481356 XIRP2-AS1 XIRP2 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 2 q24.3 167122809 167140955 - 8554872 16344560 100874011 ABBA01004940;AC108494;AMYH02005157;BU569857;DB050454;NR_046665 APPROVED ncrna HGNC:40679 VALIDATED 1349793 XG Xg blood group This gene encodes the XG blood group antigen, and is located at the pseudoautosomal boundary on the short (p) arm of chromosome X. The three 5' exons reside in the pseudoautosomal region and the remaining exons within the X-specific end. A truncated copy of this gene is found on the Y chromosome at the pseudoautosomal boundary. It is transcribed, but not expected to make a Y-chromosome specific gene product. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] X X X p22.33 6950542 7014968 + 2670069 2734541 + 2752028 2816500 + 1580863;6480464 10688843;10941840;12477932;18789743;24132906;3007328;6482910;7533029;7633446;8054981 7499 B4E289;E5RH28;P55808 ABBA01038609;ABBA01038610;ABBA01038611;ABBA01038612;ABBA01038613;AC006209;AC138085;AF380356;AF534880;AK304164;AMYH02038711;AMYH02038712;BC100764;BC100765;BC100766;BC100767;BX098030;BX379565;CH471074;NG_011627;NM_001141919;NM_001141920;NM_175569;XM_005274587;XM_006724512;Z48517 AAI00765;AAI00766;AAI00767;AAI00768;AAL04055;AAN03481;BAG65051;EAW98701;EAW98702;EAW98703;NP_001135391;NP_001135392;NP_780778;P55808;XP_005274644;XP_006724575 Hs.179675 1694736;1702378;1702386;1719669;2109003;2156351 G18194;G43566;GDB:293911;GDB:453371;RH123526;XG_8728 MGC118758;MGC118759;MGC118760;MGC118761;PBDX OTTHUMP00000022846;OTTHUMP00000225758;OTTHUMP00000225759;XG glycoprotein;Xg blood group (pseudoautosomal boundary-divided on the X chromosome);glycoprotein Xg APPROVED protein-coding ENSG00000124343 HGNC:12806 02443 300879 REVIEWED 1602431 XKR3 XK, Kell blood group complex subunit-related family, member 3 XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008] 22 22 22 q11.1 886539 924857 - 17264302 17302584 - 16783412 16821694 - 6480464;8554872 12477932;14702039;16344560;16431037;20560530 150165 Q5GH77 ABBA01001462;AC005301;AC007064;AK098608;AMYH02037983;AY534240;AY989815;BC045548;BC137521;BC137522;BC144679;CH471193;DB046546;HC007170;NM_175878 AAI37522;AAI37523;AAI44680;AAT07089;AAX86010;BAC05352;CBH19390;EAW57723;NP_787074;Q5GH77 Hs.356069 1692750;1733240;2139789 AL034139;D22S580;D22S581 MGC57211;XRG3;XTES OTTHUMP00000184896;X Kell blood group precursor-related family, member 3;XK-related protein 3;expressed in testis;x Kell blood group-related 3 APPROVED protein-coding ENSG00000172967 HGNC:28778 14692 611674 VALIDATED 1353468 XIST X inactive specific transcript (non-protein coding) X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012] X X X q13.2 73323975 73356069 - 73040486 73072588 - 73820651 73852753 - 6480464;8699517;7240710 10723727;12072569;12419249;12629412;1423611;14702039;15065664;15731119;16751776;16769694;17333237;17537922;17545591;18854511;19440381;19704020;19812237;1985261;1985270;20052282;20211024;2034279;21212949;21765457;21820484;22375145;22386265;23595112;2612213;8265665;8636206;9069284;9185579;9239711;9245976;9245982;9354806 7503 ABBA01059637;ABBA01059638;ABBA01059639;ABBA01059640;ABBA01059641;AI640908;AK025198;AK054860;AK295558;AL353804;AMYH02039772;AMYH02039773;BX648323;CR749383;DQ583411;HG512583;HG512585;HG512587;HG512588;M97168;NG_016172;NR_001564;X56196;X56197;X56198;X56199 Hs.529901;Hs.655450 1700636;1702488;1742043;1744455;1775022;1793604;1793606;1793608;1793610;1793612;1793614;1793616;2118761;2138767;2141630;2141963;2141965;2178309;2182034;2182036;7184007 1206;A006G16;A006J28;DXS9733;G20784;G20873;GDB:190003;GDB:265297;GDB:454788;PMC24149P11;PMC24149P12;PMC24149P13;PMC24149P14;PMC24149P15;PMC24149P16;PMC24149P17;RH103941;RH16556;RH18196;RH47941 DKFZp779P0129;DXS1089;DXS399E;LINC00001;NCRNA00001;SXI1;XCE;XIC;swd66 APPROVED ncrna ENSG00000229807 HGNC:12810 300087;314670 REVIEWED 1351512 XK X-linked Kx blood group This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008] X X X p21.1 41682795 41729061 + 37545133 37591383 + 37685880 37732130 + 1354522;1580863;6480464;7240710;8699517;8554872 8004674 10426139;10556484;10849386;11261514;11703337;11761473;1191546;11961232;12477932;12775719;12823753;15107016;15489334;17081983;17302777;17379193;17469188;19322201;19380743;20301334;20301528;21145924;21463873;21988832;3358422;7737196;8619554;871435;9074432;9593744;9647734;9784384 7504 P51811;Q2Z218 AB214532;ABBA01047095;ABBA01047096;ABBA01047097;ABBA01047098;ABBA01047099;ABBA01047100;AC233292;AC233297;AL121577;AMYH02039170;AY534238;BC036019;CH471141;DQ062746;FB659844;NG_007473;NM_021083;Z32684 AAH36019;AAT07087;AAY43132;BAE48708;CAA83632;CAS01776;EAW59454;NP_066569;P51811 Hs.78919 1704418;1743775;1743777;2117697;2218646;5120724 DXS6997E;GDB:373289;GDB:373292;GDB:373297;SHGC-82907;XK__4911 KX;MCLDS;NA;NAC;X1k;XKR1 Kell blood group precursor (McLeod phenotype);Kx antigen;OTTHUMP00000031911;XK, Kell blood group complex subunit (McLeod syndrome);XK-related protein 1;kell complex 37 kDa component;membrane transport protein XK;neuroacanthocytosis;neurocanthocytosis APPROVED protein-coding ENSG00000047597 HGNC:12811 02444 300842;314850 REVIEWED 1604445 XKR5 XK, Kell blood group complex subunit-related family, member 5 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH calcitriol; testosterone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 8 8 8 p23.1 6643512 6670635 - 6666038 6693166 - 6808517 6835644 - 6480464;8554872 12975309 389610 Q6UX68 ABBA01007052;ABBA01007053;ABBA01007054;ABBA01007055;AC247054;AF233439;AY358489;AY534242;AY534243;CH471153;KF495715;NM_001289973;NM_207411 AAQ88853;AAT07091;AAT07092;EAW80479;EAW80480;NP_001276902;NP_997294;Q6UX68 Hs.558840 1696776;2189901;5015861;7185938 99-12956;D10S16;SHGC-77969 HARL2754;UNQ2754;XRG5BM;XRG5a;XRG5b X Kell blood group precursor-related family, member 5;XK-related protein 5;XK-related protein 5a protein-coding ENSG00000275591 HGNC:20782 18308 VALIDATED 1605535 XKR7 XK, Kell blood group complex subunit-related family, member 7 ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 20 20 20 q11.21 27312161 27342614 + 30555805 30586256 + 31968002 31998453 + 6480464;8554872 11780052 343702 Q5GH72 ABBA01019287;AL031658;AMYH02036911;AMYH02036912;AY534245;CH471077;NM_001011718 AAT07094;EAW76398;NP_001011718;Q5GH72 Hs.666444 1338438;1340535 D20S863;D20S872 C20orf159;dJ310O13.4 OTTHUMP00000030573;X Kell blood group precursor-related family, member 7;XK-related protein 7 protein-coding HGNC:23062 17359 PROVISIONAL 1604439 XKR9 XK, Kell blood group complex subunit-related family, member 9 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH cadmium atom; cadmium dichloride (ortholog) 8 8 8 q13.3 67579235 67644725 + 71581600 71648177 + 70669365 70735942 + 6480464;8554872 12477932;22504420 389668 E5RFF6;E5RI45;Q5GH70 ABBA01041942;ABBA01041943;AC020987;AC022731;AMYH02018179;AMYH02018180;AMYH02018181;AMYH02018182;AY534247;BC111381;BC137104;BC137105;BC151845;CH471068;NM_001011720;NM_001287258;NM_001287259;NM_001287260;XM_006716447 AAI37105;AAI37106;AAT07096;EAW86971;NP_001011720;NP_001274187;NP_001274188;NP_001274189;Q5GH70;XP_006716510 Hs.458938 XRG9 OTTHUMP00000226694;OTTHUMP00000226695;X Kell blood group precursor-related family, member 9;XK-related protein 9 protein-coding ENSG00000221947 HGNC:20937 18309 VALIDATED 1602706 XKR8 XK, Kell blood group complex subunit-related family, member 8 INVOLVED IN engulfment of apoptotic cell; phosphatidylserine exposure on apoptotic cell surface; FOUND IN plasma membrane; INTERACTS WITH diazinon; disodium selenite; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p35.3 26682123 26690220 + 28286504 28294604 + 27959993 27968093 + 6480464 12477932;14702039;15489334;16710414;23845944 55113 Q9H6D3;Q9NW55 ABBA01035006;ABBA01035007;AK001169;AK026024;AK054909;AK091615;AL512288;AMYH02000614;AY534246;BC003606;BC013379;BC028564;CH471059;CQ834414;CQ834522;NM_018053 AAH03606;AAH13379;AAH28564;AAT07095;BAA91531;BAB15326;CAH05422;CAH05476;EAX07717;EAX07718;EAX07719;EAX07720;NP_060523;Q9H6D3 Hs.55024 2127780 SHGC-56999 FLJ10307;RP11-460I13.3;XRG8;hXkr8 OTTHUMP00000004007;X Kell blood group precursor-related family, member 8;XK-related protein 8 protein-coding ENSG00000158156 HGNC:25508 07661 PROVISIONAL 1321790 XKR6 XK, Kell blood group complex subunit-related family, member 6 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 8 8 8 p23.1 9881570 10186826 - 10753654 11058875 - 10896144 11201366 - 737633;6480464;8554872 12477932 11181995;11896452;14702039;15489334;19060906;19322201;20160193;20686565;20962850;20972250;21060863;24388013 286046 H0YEU9;H7BYF9;Q5GH73;Q96KT3 AB073660;ABBA01026883;ABBA01026884;ABBA01026885;ABBA01026886;AC011008;AC105107;AC105108;AF131215;AJ301560;AJ305312;AK056119;AMYH02017429;AMYH02017430;AMYH02017431;AMYH02017432;AMYH02017433;AMYH02017434;AMYH02017435;AY534244;BC024146;CH471157;KF458681;KF458683;KF458688;KF511055;NM_173683 AAH24146;AAT07093;CAC82736;CAC83680;EAW65599;EAW65601;EAW65605;NP_775954;Q5GH73 Hs.657083;Hs.665456;Hs.666146 1335747;1337321;1340559;1757239;1774547;2138645;2159766;2179358;5023095;7184036 D8S1755;D8S376;D8S415;D8S550;RH67953;SHGC-144660;SHGC-52603;SHGC-59893;XKR6 C8orf21;C8orf5;C8orf7;FLJ31557;XRG6 OTTHUMP00000229688;Transmembrane protein C8orf5;X Kell blood group precursor-related family, member 6;XK-related protein 6;chromosome 8 open reading frame 21 protein-coding ENSG00000171044 HGNC:27806 12926 PROVISIONAL 1347436 XIRP2 xin actin-binding repeat containing 2 ENCODES a protein that exhibits actin binding (inferred); alpha-actinin binding (inferred); INVOLVED IN actin cytoskeleton organization (inferred); cardiac muscle tissue morphogenesis (inferred); cell-cell junction organization (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cell junction (inferred); Z disc (inferred); INTERACTS WITH benzo[a]pyrene; ethyl methanesulfonate; formaldehyde 2 2 2 q24.3 161368680 161725410 + 167744997 168116263 + 166888487 167259753 + 6480464;8554872 12203715;12477932;14687087;14702039;15454575;16205742;16344560;17046827;20379614;20520587;20562859;22145905;23115302;23985323 129446 A4UGR9 AA665183;ABBA01004934;ABBA01004935;ABBA01004936;ABBA01004937;ABBA01004938;ABBA01004939;ABBA01004940;ABBA01004941;ABBA01004942;AC092601;AC093684;AC108494;AC133782;AJ626901;AK056582;AK092683;AK096430;AK096907;AK097519;AK122889;AK123963;AK125495;AL831970;AL831985;AL832011;AL832331;AL832336;AL832360;AL832375;AL832382;AL832452;AL833291;AMYH02005153;AMYH02005154;AMYH02005155;AMYH02005156;AMYH02005157;AY820969;BC016370;BC018673;BC022446;BC022887;BC022888;BC070143;BC107799;BX647448;BX647645;BX647844;BX647845;BX647848;CH471058;DB079087;EF119711;EF119717;EF119718;EF119719;EF119720;EF119721;EF119722;KF456733;NM_001079810;NM_001199143;NM_001199144;NM_001199145;NM_152381;XM_006712256 A4UGR9;AAH18673;AAV87913;AAY24138;ABO69245;ABO69246;ABO69247;ABO69248;ABO69249;ABO69250;ABO69251;BAG53782;CAD38624;CAD89919;CAD89958;CAD91137;CAD91139;CAD91141;CAD91146;CAD91154;CAD91156;CAF25193;EAX11311;NP_001073278;NP_001186072;NP_001186073;NP_001186074;NP_689594;XP_006712319 Hs.73680 1334855;1336072;1662238;1666394;1713953;1734768;1761483;1783922;1851055;7186590 D2S1379;D2S1395;D2S1531E;D2S1549E;D2S399;RH119405;RH65349;SHGC-107530;SHGC-145487 CMYA3;DKFZp451G055;DKFZp779G1747;FLJ39111;FLJ40200 OTTHUMP00000204894;OTTHUMP00000204895;OTTHUMP00000204896;OTTHUMP00000204897;OTTHUMP00000206012;OTTHUMP00000206013;beta-xin;cardiomyopathy associated 3;cardiomyopathy-associated protein 3;myomaxin;xeplin;xin actin-binding repeat-containing protein 2;xin repeat protein 2 protein-coding ENSG00000163092 HGNC:14303 10267 609778 VALIDATED 1606184 XKR4 XK, Kell blood group complex subunit-related family, member 4 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; trichostatin A; valproic acid 8 8 8 q12.1 52005765 52428770 + 56015017 56438714 + 55102457 55526155 + 6480464;8554872 11572484;18187620;18521090;19573479;20379614;20607790;22610502 114786 Q5GH76 AB067476;ABBA01041746;ABBA01041747;ABBA01041748;AC022679;AC090200;AC103716;AC103953;AF165144;AMYH02018007;AMYH02018008;AMYH02018009;AY534241;KC877230;KC877232;KC877234;KC877239;KC877241;KF458757;KF458760;KF459911;KF511077;NM_052898 AAI56156;AAT07090;BAB67782;NP_443130;Q5GH76 Hs.130197 1336603;1662578;1673900;1685632;1690083;1703770;1716307;1716605;1719697;1779280;1786550;1786888;1849305;2173072;2173074;2177312;2177909 A005A23;D8S165;D8S1997;D8S2002;D8S2332;G20264;RH121183;RH121648;RH123537;RH47520;RH98439;SHGC-111478;SHGC-153278;SHGC-5783;SHGC-83208;SHGC-89410;STS-T23637 KIAA1889;XRG4 OTTHUMP00000226372;X Kell blood group precursor-related family, member 4;XK-related protein 4 protein-coding HGNC:29394 17228 PROVISIONAL 1344352 XKRY XK, Kell blood group complex subunit-related, Y-linked This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.222 5229495 5231075 - 19880860 19882440 - 17768980 17770560 - 1580863 12477932;12815422;20301513;9381176;9647734 9082 A2RUG3;O14609 ABBA01007791;AC007742;AF000997;BC132883;BC132885;CH471194;NG_004636;NG_032917;NM_004677 A2RUG3;AAC51844;AAI32884;AAI32886;AAI48608;AAI53174;EAW69704;NP_004668;O14609 Hs.158346 2113592;2116623;2188613;2188835;5493963 G34987;G65846;G66358;UniSTS:480532;sY1235 XKRY1;XKRY2 Testis-specific XK-related protein on Y;X Kell blood group precursor-related, Y-linked;testis-specific XK-related protein, Y-linked 2 APPROVED protein-coding HGNC:18571 02456 400015 REVIEWED 1345703 XKRX XK, Kell blood group complex subunit-related, X-linked This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010] X X X q22.1 100687232 100702698 - 100168431 100184422 - 100913442 100929433 - 6480464 12477932;15772651;16431037 402415 C9JYI8;Q6PP77 ABBA01064118;ABBA01064119;AI087330;AK296711;AMYH02040061;AY534239;AY589511;BC137010;BC137011;CH471115;NG_021224;NM_212559;XM_005262130;Z73417 AAI37011;AAI37012;AAT00456;AAT07088;BAG59304;EAX02827;NP_997724;Q6PP77;XP_005262187 Hs.364911;Hs.745071 2106747;2183887 RH44986;XKRX__4912 FLJ60646;XKR2;XPLAC;XRG2 OTTHUMP00000023661;X Kell blood group precursor-related, X-linked;XK-related protein 2;membrane protein XPLAC APPROVED protein-coding ENSG00000182489 HGNC:29845 11687 300684 REVIEWED 1353485 XKRY2 XK, Kell blood group complex subunit-related, Y-linked 2 This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.221 5229495 5231075 - 20297335 20298915 + 18135449 18137029 + 12477932;12815422;9381176;9847074 353515 A2RUG3 AC024183;BC132901;BC132903;NG_004636;NM_001002906 A2RUG3;AAI32902;AAI32904;AAI41490;AAI48773;NP_001002906 Hs.632286 2113592;2116623;2188613;2188835;5493963 G34987;G65846;G66358;UniSTS:480532;sY1235 XKRYP7 X Kell blood group precursor-related, Y-linked 2;X Kell blood group precursor-related, Y-linked pseudogene 7;testis-specific XK-related protein, Y-linked 2 APPROVED protein-coding HGNC:23922 18603 REVIEWED 1604932 XKRYP1 XK, Kell blood group complex subunit-related, Y-linked pseudogene 1 Y Y q11.221 20669698 20671494 + 18507812 18509608 + 12815422;9847074 379028 AC068541;NG_004636 1778178;2188617;2188623 DYS211;G66360;G66364 pseudo HGNC:23908 VALIDATED 1604931 XKRYP2 XK, Kell blood group complex subunit-related, Y-linked pseudogene 2 Y Y Y q11.222 6793498 6801728 + 20972684 20974480 - 18810798 18812594 - 12815422;9847074 379029 AC007379;NG_004636 1778178;2188617;2188623;5115888 DYS211;G66360;G66364;sY1168 pseudo HGNC:23909 VALIDATED 1604930 XKRYP3 XK, Kell blood group complex subunit-related, Y-linked pseudogene 3 Y Y Y q11.223 9935289 9937087 - 25861834 25863632 - 23715687 23717485 - 12815422;9847074 379030 AC016752;NG_004755 5022999;5115932;5115934;5116270 sY1740;sY1742;sY2835;sY2858 pseudo HGNC:23910 VALIDATED 1604929 XKRYP4 XK, Kell blood group complex subunit-related, Y-linked pseudogene 4 Y Y Y q11.223 10136275 10138073 - 26062843 26064641 - 23916696 23918494 - 12815422 379031 AC073649;NG_004755 pseudo HGNC:23911 VALIDATED 1604928 XKRYP5 XK, Kell blood group complex subunit-related, Y-linked pseudogene 5 Y Y Y q11.223 10136275 10138073 - 27897764 27899562 + 25751617 25753415 + 12815422;9847074 379032 AC010682;NG_004755 pseudo HGNC:23912 VALIDATED 1604927 XKRYP6 XK, Kell blood group complex subunit-related, Y-linked pseudogene 6 Y Y Y q11.23 9935289 9937087 - 28098737 28100534 + 25952590 25954387 + 12815422;9847074 379033 AC007965;NG_004755 5022999;5115932;5115934;5116270 sY1740;sY1742;sY2835;sY2858 pseudo HGNC:23913 VALIDATED 1346293 XM Xm(a) antigen 7506 HGNC:12813 314900 1342861 XLRL X-linked lymphocyte-regulated-like 1 (mouse) 8535073 7505 HGNC:12812 1353417 XIAP X-linked inhibitor of apoptosis This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011] X X X q25 123378893 123432624 + 122993662 123047829 + 123859812 123913979 + 1580863;2314390;2315847;2315848;2315849;2315850;2315851;2315852;2315854;2315853;6480464;6484113;6907045;7240710;8554872;8699517 17332931;17350670;17869439;17947468;18259199;18325467;19415464;19563669;19758744 10929712;11140637;11175744;11242052;11257230;11257231;11257232;11356828;11359776;11379817;11390657;11447297;11546791;11583623;11597143;11598496;11602612;11604410;11606597;11724934;11801603;11803371;11807766;11832478;11865055;11927604;11972398;12021770;12048196;12121969;12121983;12218061;12243753;12388702;12477932;12482981;12511567;12525502;12592339;12620238;12624662;12660240;12691733;12725530;12747801;12835328;12851723;12855663;12865429;12970762;14512414;14523016;14532997;14570909;14645242;14685242;14685266;14759516;15029247;15037009;15044484;15078891;15173080;15178455;15200957;15201285;15207275;15218035;15280366;15282301;15292176;15297970;15300255;15337764;15353805;15359644;15489334;15507451;15531913;15541727;15570290;15580265;15650747;15665297;15677500;15749826;15772651;15781261;16007220;16142363;16189514;16211302;16263936;16278380;16282325;16322207;16338389;16343440;16344307;16344560;16394139;16543147;16603637;16701639;16732928;16775419;16799641;16868249;16869888;16887178;16932741;16964381;16972754;16983704;17008917;17016456;17035597;17050666;17069460;17080092;17094439;17144666;17179183;17287399;17291493;17318174;17331366;17332680;17339366;17350081;17382285;17437405;17440816;17450518;17471152;17534699;17579071;17603079;17611394;17613533;17626072;17630106;17698078;17721914;17724022;17906618;17936246;17951200;17967870;17993464;18022123;18022362;18024305;18041764;18049476;18068114;18068526;18071906;18187663;18251743;18309651;18414036;18415656;18432259;18438971;18467439;18520160;18521960;18560353;18566024;18570872;18590777;18645029;18647593;18666224;18703998;18704457;18723680;18755525;18761086;18767116;18795889;18807090;18820704;18829553;18831009;18851976;18854154;18931663;19001278;19011619;19153467;19171073;19176394;19223549;19273858;19288545;19289587;19322201;19355825;19369629;19393243;19397802;19398375;19411066;19473982;19506082;19506533;19531477;19549727;19562673;19584092;19615732;19649722;19654940;19667203;19670614;19698783;19723899;19726736;19738422;19763917;19782107;19787196;19815541;19854829;19859091;19875445;19877056;19885569;19897582;19913121;19946707;19949310;20067634;20154138;20171186;20213810;20301580;20381828;20395960;20406824;20406946;20431038;20484174;20515940;20517649;20582956;20625944;20628086;20632385;20670888;20676365;20677802;20682709;20712893;20819778;20856198;20862799;20932476;20938744;20957035;20959405;20972266;20979872;20980180;21102524;21113135;21119115;21139048;21185211;21255191;21317880;21325798;21354220;21364655;21367892;21387310;21402697;21442307;21518480;21535957;21543760;21628460;21653699;21674762;21712378;21849505;21869827;21890473;21903422;21906983;21908615;21931591;21935275;21963094;22039248;22072751;22083305;22103349;22117219;22185822;22194841;22273571;22320973;22333553;22343716;22393046;22403616;22427670;22459568;22493164;22505724;22532870;22584050;22607974;22653317;22653319;22683311;22696161;22711539;22733138;22776562;22797576;22811387;22815893;22825849;22867709;22886722;22896709;22934750;22939629;23000965;23074197;23156805;23190606;23201124;23222509;23223428;23259674;23306356;23354694;23397285;23418891;23492187;23553333;23640046;23669290;23720779;23742934;23749209;23817665;23818254;23828693;23833193;23891189;23900601;23906794;23955808;23973892;23979166;23999295;24038028;24043286;24083782;24093940;24145606;24188482;24194568;24247248;24305822;24344018;24371121;24422988;24425875;24446252;24552816;24661516;24802394;24853184;24947323;24975362;8552191;8654366;8938457;9205126;9230442;9384571;9525868;9545235;9878061 331 B1AKU2;B1AKU3;B2R9R2;P98170 ABBA01036394;ABBA01036395;ABBA01036396;ABBA01036397;ABBA01036398;ABBA01036399;ABBA01036400;ABBA01036401;ABBA01036402;ABBA01036403;ABBA01036404;ABBA01036405;ABBA01036406;ABBA01036407;ABBA01036408;ABBA01036409;AK130423;AK309704;AK313883;AL022156;AL121601;AL591583;AMYH02040409;AMYH02040410;AMYH02040411;AMYH02040412;AMYH02040413;AMYH02040414;AMYH02040415;AMYH02040416;AY886519;BC030771;BC032729;BQ423165;CH471107;DA316362;FB777841;FB777857;H09548;NG_007264;NM_001167;NM_001204401;NR_037916;U32974;XM_006724754 AAC50518;AAH32729;AAW62257;ABM81783;ABM84938;BAG36609;CAW32364;CAW32374;EAX11858;EAX11859;EAX11860;EAX11861;NP_001158;NP_001191330;P98170;XP_006724817 Hs.356076;Hs.736565 1693764;1702228;1781212;1792296;1792896;1794168;1798962;1801800;1805438;1806736;1811672;1812906;1815382;1816602;1818402;1819430;1821246;1822852;1828840;1829262;1832282;1833172;1834708;1836032;1836318;1836608;1836668;1836960;1837278;1837892;1838292;1838346;1839566;1839752;1840492;1840922;1841732;1844282;1846394;1851965;1853395;1853397;1961428;1961430;1961432;1961434;1961436;1961438;1961440;1961442;1961444;1961446;1961448;1961450;1961452;1961454;1961456;1961458;1961460;1961462;1961464;1961466;1961468;1961470;1961472;1961474;1961476;1961478;1961480;1961482;1961484;1961486;1961488;1961490;1961492;1961494;1961496;1961498;1961500;1961502;1961504;1961506;1961508;1961510;1961512;1961514;1961516;1961518;1961520;1961522;1961524;1961526;1961528;1961530;1961532;1961534;1961536;1961538;1961540;1961542;1961544;1961546;1961548;1961550;1961552;1961554;1961556;1961558;1961560;1961562;1961564;1961566;1961568;1961570;1961572;1961574;1961576;1961578;1961580;1961582;1961584;1961586;1961588;1961590;1961592;1961594;1961596;1961598;1961600;1961602;1961604;1961606;1961608;1961610;1961612;1961614;1961616;1961618;1961620;1961622;1961624;1961626;1961628;1961630;1961632;1961634;1961636;1961638;1961640;1961642;1961644;1961646;1961648;1961650;1961652;1961654;1961656;1961658;1961660;1961662;1961664;1961666;1961668;1961670;1961672;1961674;1961676;1961678;1961680;1961682;1961684;1961686;1961688;1961690;1961692;1961694;1961696;1961698;1961700;1961702;1961704;1961706;1961708;1961710;1961712;1961714;1961716;1961718;1961720;1961722;1961724;1961726;1961728;1961730;1961732;1961734;1961736;1961738;1961740;1961742;1961744;1961746;1961748;1961750;1961752;1961754;1961756;1961758;1961760;1961762;1961764;1961766;1961768;1961770;1961772;1961774;1961776;1961778;1961780;1961782;1961784;1961786;1961788;1961790;1961792;1961794;1961796;1961798;1961800;1961802;1961804;1961806;1961808;1961810;1961812;1961814;1961816;1961818;1961820;1961822;1961824;2159149;2213488;2213490;2213492;2213494;2213496;2213498;2213500;2213502;2213504;2213506;2213508;2213510;2213512;2213514;2213516;2213518;2213520;2213522;2213524;2213526;2213528;2213530;2213532;2213534;2213536;2213538;2213540;2213542;2213544;2213546;2213548;2213550;2213552;2213554;2213556;2213558;2213560;2213562;2213564;2213566;2213568;2213570;5014051;5015619;5015961;5016478;5016700;5020740;5021872;5022200;5022322;5022463;5022578;5022651;5024756;5037552;5095078;5117897 A006G12;AL008894;BIRC4;D11S2560;D11S2921;D11S3114;D15S1477;D1S1423;D3S1673;D8S2278;D8S2279;DXS7864;ECD00323;ECD01781;ECD03666;ECD04326;ECD06840;ECD07467;ECD08727;ECD09343;ECD10259;ECD10782;ECD11700;ECD12514;ECD15547;ECD15760;ECD17279;ECD17728;ECD18502;ECD19177;ECD19321;ECD19468;ECD19498;ECD19644;ECD19806;ECD20116;ECD20320;ECD20347;ECD20966;ECD21059;ECD21433;ECD21654;ECD22065;ECD23355;ECD24417;G20782;GDB:434012;GDB:631813;L17809;L18426;PMC140676P1;PMC166414P3;PMC310799P3;REN51587;REN51588;REN51589;REN51590;REN51591;REN51592;REN51593;REN51594;REN51595;REN51596;REN51597;REN51598;REN51599;REN51600;REN51601;REN51602;REN51603;REN51604;REN51605;REN51606;REN51607;REN51608;REN51609;REN51610;REN51611;REN51612;REN51613;REN51614;REN51615;REN51616;REN51617;REN51618;REN51619;REN51620;REN51621;REN51622;REN51623;REN51624;REN51625;REN51626;REN51627;REN51628;REN51629;REN51630;REN51631;REN51632;REN51633;REN51634;REN51635;REN51636;REN51637;REN51638;REN51639;REN51640;REN51641;REN51642;REN51643;REN51644;REN51645;REN51646;REN51647;REN51648;REN51649;REN51650;REN51651;REN51652;REN51653;REN51654;REN51655;REN51656;REN51657;REN51658;REN51659;REN51660;REN51661;REN51662;REN51663;REN51664;REN51665;REN51666;REN51667;REN51668;REN51669;REN51670;REN51671;REN51672;REN51673;REN51674;REN51675;REN51676;REN51677;REN51678;REN51679;REN51680;REN51681;REN51682;REN51683;REN51684;REN51685;REN51686;REN51687;REN51688;REN51689;REN51690;REN51691;REN51692;REN51693;REN51694;REN51695;REN51696;REN51697;REN51698;REN51699;REN51700;REN51701;REN51702;REN51703;REN51704;REN51705;REN51706;REN51707;REN51708;REN51709;REN51710;REN51711;REN51712;REN51713;REN51714;REN51715;REN51716;REN51717;REN51718;REN51719;REN51720;REN51721;REN51722;REN51723;REN51724;REN51725;REN51726;REN51727;REN51728;REN51729;REN51730;REN51731;REN51732;REN51733;REN51734;REN51735;REN51736;REN51737;REN51738;REN51739;REN51740;REN51741;REN51742;REN51743;REN51744;REN51745;REN51746;REN51747;REN51748;REN51749;REN51750;REN51751;REN51752;REN51753;REN51754;REN51755;REN51756;REN51757;REN51758;REN51759;REN51760;REN51761;REN51762;REN51763;REN51764;REN51765;REN51766;REN51767;REN51768;REN51769;REN51770;REN51771;REN51772;REN51773;REN51774;REN51775;REN51776;REN51777;REN51778;REN51779;REN51780;REN51781;REN51782;REN51783;REN51784;REN51785;RH47562;RH79802;RH80030;SHGC-58836;sY3084;stSG38423;stSG633501;stSG633502;stSG633503;stSG633504;stSG633505;stSG633506;stSG633507;stSG633508;stSG633509;stSG633510;stSG633511;stSG633512;stSG633513;stSG633514;stSG633515;stSG633516;stSG633517;stSG633518;stSG633519;stSG633520;stSG633521;stSG633522;stSG633523;stSG633524;stSG633525;stSG633526;stSG633527;stSG633528;stSG633529;stSG633530;stSG633531;stSG633532;stSG633533;stSG633534;stSG633535;stSG633536;stSG633537;stSG633538;stSG633539;stSG633540;stSG633541;stSG633542 API3;BIRC4;FLJ26913;IAP-3;ILP1;MIHA;XLP2;hIAP-3;hIAP3 E3 ubiquitin-protein ligase XIAP;IAP-like protein;OTTHUMP00000023975;OTTHUMP00000196392;X-linked IAP;X-linked inhibitor of apoptosis protein;apoptosis inhibitor 3;baculoviral IAP repeat-containing protein 4;inhibitor of apoptosis protein 3 APPROVED protein-coding ENSG00000101966 HGNC:592 02094 300079;300635 REVIEWED 1603202 XPNPEP3 X-prolyl aminopeptidase (aminopeptidase P) 3, putative The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011] 22 22 22 q13.2 25056765 25127557 + 41253085 41328823 + 40857081 40932819 + 6480464;7240710;8554872;8699517 10591208;12477932;14743216;15342556;15461802;15489334;15708373;17110338;18029348;19287380;20179356;21068128;21139048;21145461;21906983;23824909;24816145;8889548 63929 F2Z316;Q9NQH7 ABBA01055609;ABBA01055610;ABBA01055611;AI446638;AK301635;AK310502;AK313770;AL035450;AL080242;AL365514;AL834310;AMYH02038422;AMYH02038423;AMYH02038424;BC001208;BC001681;BC004989;BC005331;BC011632;BC016735;BC023654;BC032537;BC037424;BC045166;BC053556;BM980889;BP346902;BX648018;CH471095;CR456442;CR457396;NG_028221;NM_001204827;NM_022098;Z98048 AAH01208;AAH01681;AAH04989;BAG36508;BAH13526;CAB97210;CAD38980;CAG30328;CAG33677;EAW60397;EAW60398;EAW60399;EAW60400;NP_001191756;NP_071381;Q9NQH7 Hs.529163 1671548;1676888;1681308;1731369;1781154;1858542;2130245;5014051;5015404;5015619;5015879;5015961;5016478;5016596;5016700;5020740;5020946;5021872;5022200;5022450;5022588;5022651;5024413;5024756;5024761;5037552;5117897;7184802;7184975 D10S275;D11S2921;D11S3114;D15S1477;D18S21;D22S1256;D5S1597E;D8S2278;D8S2279;GDB:314949;GDB:434012;GDB:631802;GDB:631813;L17705;L17809;L17877;L17971;L18426;RH36905;RH79802;RH80030;RH92006;RH94212;STS-N20670;WI-11646;sY3084;stdJ997M22T APP3;NPHPL1 OTTHUMP00000199806;X-Pro aminopeptidase 3;aminopeptidase P3;probable Xaa-Pro aminopeptidase 3 APPROVED protein-coding ENSG00000196236 HGNC:28052 10052 613159;613553 REVIEWED 734376 XPNPEP2 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq, Jul 2008] X X X q25 129259509 129290027 + 128872946 128903525 + 129738970 129769549 + 1580863;6480464;7401223;8554872 16177542 10737800;10894934;12477932;1510698;15203218;15342556;15489334;15772651;16175507;17003818;18158172;18515364;19056867;19178938;19460752;20625347;21052031;21898657;23276181;9375790;9628831;9765967 7512 O43895;Q5JZ40 ABBA01047834;ABBA01047835;ABBA01047836;ABBA01047837;AF086417;AF195953;AK300954;AL023653;AMYH02040464;BC126174;BC143901;BF830085;BP270314;BQ224207;BX386512;CD617070;CH471107;NG_011479;NM_003399;U90724 AAB96394;AAG28480;AAI26175;AAI43902;BAG62582;EAX11827;NP_003390;O43895 Hs.170499 1691638;1743415;2161787;2168891 AL008958;AL032550;GDB:316041;SHGC-57484 APP2;mAmP AEACEI;OTTHUMP00000023987;X-Pro aminopeptidase 2;aminoacylproline aminopeptidase;membrane-bound APP;membrane-bound AmP;membrane-bound aminopeptidase P;xaa-Pro aminopeptidase 2 APPROVED protein-coding ENSG00000122121 HGNC:12823 02144 300145;300909 REVIEWED 733430 XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009] 10 10 10 q25.3 105356208 105414975 - 111624524 111683311 - 109864766 109923553 - 6480464;7401223;8554872 16177542 10871044;11106490;12477932;12665801;14702039;1510698;15164054;15489334;16169070;16344560;16385451;17043677;18029348;18515364;19126663;20379614;20460270;21052031;21139048;21900206;21906983;22505724;22863883;22939629;23314748;23824909;24816145;25027693;3141711;8125298;9465902 7511 Q5T6H2;Q5T6H3;Q5T6H7;Q9NQW7 ABBA01063040;AF195530;AF272981;AK093693;AK095447;AK223513;AK289436;AK295756;AK304367;AL354951;AL833411;AMYH02023792;BC005126;BC007579;BC013417;BX537682;CH471066;CR456922;DA484161;NM_001167604;NM_020383;NR_030724;X95762;XM_005270144;XM_005270145;XM_006717962;XM_006717963 AAF75795;AAF97866;AAH05126;AAH07579;AAH13417;ABW03612;ABW03865;BAD97233;BAF82125;BAG52749;BAG58586;BAG65206;CAA65068;CAD38640;CAG33203;CAH18706;EAW49576;EAW49577;NP_001161076;NP_065116;Q9NQW7;XP_005270201;XP_005270202;XP_006718025;XP_006718026 Hs.390623 1696674;1727321;2109005;2116257;2123001;2129594 D9S58;G63068;SHGC-83015;STS-W32419;WI-15620;XPNPEP1_8729 APP1;SAMP;XPNPEP;XPNPEPL;XPNPEPL1 OTTHUMP00000020457;OTTHUMP00000020458;X-Pro aminopeptidase 1;X-prolyl aminopeptidase (aminopeptidase P)-like;X-prolyl aminopeptidase 1, soluble;aminoacylproline aminopeptidase;aminopeptidase P, cytosolic;cytosolic aminopeptidase P;soluble aminopeptidase P;xaa-Pro aminopeptidase 1 APPROVED protein-coding ENSG00000108039 HGNC:12822 03899 602443 REVIEWED 1323777 XPO4 exportin 4 XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, Mar 2009] 13 13 13 q11 2413409 2538856 - 21351468 21476913 - 20777329 20902774 - 1580863;6480464;8554872 10944119;11214970;12477932;14702039;15057823;15282309;16344560;16449645;17081983;17353931;19240061;19322201;21332550;21532573;21890473;21991335;22190034;22939629;23956138;8889548 64328 F2Z2X4;Q9C0E2 AA418037;AB051508;ABBA01068592;ABBA01068593;AK023108;AK057924;AK129848;AK302760;AL356285;AL512652;AL831819;AMYH02027647;AMYH02027648;BC042504;BC050680;BC098402;BC113571;BC113573;BQ184183;BX647843;CH471075;DA119417;NM_022459;XM_005266502;XM_005266503;XM_005266504 AAH42504;AAH50680;AAI13572;AAI13574;ADR83437;BAB14409;BAB21812;BAG63971;CAD38533;EAX08281;EAX08282;EAX08283;NP_071904;Q9C0E2;XP_005266559;XP_005266560;XP_005266561 Hs.507452 1649732;1681080;1699190;1708538;1755609;1849681;1849683;1855384;2150353;5014051;5015881;5015961;5022200 A005P28;D13S1691;D15S1477;D8S2278;G20400;G27736;GDB:335751;L18426;RH103175;RH68088;RH91537;SHGC-142462;SHGC-85047 FLJ13046;KIAA1721;exp4 OTTHUMP00000018105;exportin-4 APPROVED protein-coding ENSG00000132953 HGNC:17796 18307 611449 VALIDATED 1354083 XPOTP1 exportin, tRNA pseudogene 1 20 20 20 q11.22 29554076 29556674 - 32801101 32803699 - 34213295 34215893 - 170559 ABBA01019210;AL035458;AMYH02036967;NG_001062 XPO3P1;dJ785G19.1 APPROVED pseudo HGNC:16586 INFERRED 1322976 XPO6 exportin 6 The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 16 16 16 p11.2 26887565 27001783 - 28109297 28223281 - 28097976 28211960 - 1580863;6480464 12168954;12477932;14592989;14702039;15302935;15489334;16189514;16847355;17353931;18029348;18614847;18676839;20379614;21195711;21556326;21906983;22323606;22939629;23956138;8125298;9205841 23214 B3KW08;H3BMW9;H3BPG8;H3BR41;H3BRJ6;H3BRV5;H3BUP8;I3L0S8;I3L2D7;I3L2K0;Q96QU8 AB002368;ABBA01017168;ABBA01017169;AC136611;AK026172;AK123846;AK223043;AMYH02031775;AY026388;BC004403;BC014071;BC078674;BC108286;BC130304;BC144189;BI465054;BX346769;CH471145;NM_001270940;NM_015171;XM_005255195;XM_005255197;XM_005255198;XM_005255199;XM_005255200 AAH04403;AAH14071;AAH78674;AAI08287;AAI30305;AAI44190;AAK01471;BAA20825;BAD96763;BAG53970;EAW55736;EAW55737;EAW55738;EAW55739;NP_001257869;NP_055986;Q96QU8;XP_005255252;XP_005255254;XP_005255255;XP_005255256;XP_005255257 Hs.460468 1657366;1680357;1733270;1745981;1760363;2121182;2144815;2218648 AFM234XE9;D16S721;G36825;RH11596;RH125206;SHGC-141994;SHGC-6754;XPO6__4913 EXP6;FLJ22519;KIAA0370;RANBP20 RAN binding protein 20;exportin-6;ran-binding protein 20 APPROVED protein-coding ENSG00000169180 HGNC:19733 10525 608411 REVIEWED 1322111 XPO7 exportin 7 The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002] 8 8 8 p21 20739441 20826178 + 21777180 21864096 + 21919669 22006585 + 1580863;6480464;8554872 11024021;11071879;12477932;15161980;15282546;15489334;16169070;17353931;18256292;20139978;20503194;21139048;21900206;22505724;22586326;22797925;22863883;22939629;23906023;23956138;24038355;24250222;24816145;9872452 23039 E5RIW1;E7ESC6;H0YBE1;Q9UIA9 AB018288;ABBA01005497;AC087363;AC091171;AF064729;AK291472;AK299848;AK311616;AL597247;AMYH02017587;BC014219;BC030785;CH471080;CN479571;DB460798;DC332379;NM_015024 AAF21771;AAH14219;AAH30785;BAA34465;BAF84161;BAG61710;EAW63733;EAW63734;EAW63735;EAW63736;NP_055839;Q9UIA9 Hs.172685 1653464;1659220;1672482;1715959;1735000;1758213;1759969;1759989;1770571;1786640;1786652;2134630;2159507 D20S527E;D8S1937;RH122722;RH17792;RH46213;SHGC-111641;SHGC-111915;SHGC-147676;SHGC-149145;SHGC-149578;SHGC-33989;SHGC-57382;STS-R93526 EXP7;KIAA0745;RANBP16 OTTHUMP00000224893;OTTHUMP00000224896;RAN binding protein 16;exportin-7;ran-binding protein 16 APPROVED protein-coding ENSG00000130227 HGNC:14108 05846 606140 VALIDATED 1318735 XPA xeroderma pigmentosum, complementation group A This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] 9 9 9 q22.3 70951417 70973928 - 100437191 100459691 - 97634451 97697409 - 1331525;1599876;1580863;6480464;6907045;7240710;7246926;7246919;8554872;8699517 15118671;19154342;2234061;22824526 10214908;10447254;10583946;10783332;10888881;10944529;10946233;11058119;11081631;11259578;11268218;11859086;11906820;11972036;12082027;12376498;12390028;12459522;12477932;12486030;12527904;12663511;12897146;1339397;1372103;15095299;15213713;15333465;15471894;15489334;15598786;15746040;15837542;15844177;15882075;1601884;16195237;16284373;16393248;16413230;16491090;16507781;16513681;16540648;16613913;16675950;16712791;16905156;16916636;16979838;16985021;1702221;17040931;17078101;17154534;17176115;17363013;17379210;17531525;17575242;17653764;17685459;17687452;17720715;17765667;17825393;17848622;17913280;17932351;17932354;18035379;18204222;18240296;18442012;18478970;18559563;18585952;18645534;18676680;18711149;18774935;18854777;18990233;18990748;19029193;19056823;19074750;19116388;19170196;19173862;19177501;1918083;19197159;19237606;19270000;19332728;19430706;19434073;19446504;19468048;19536092;19538122;19586908;19692168;19789190;19878615;19892827;19940136;19954624;20056640;20061190;20232390;20301571;20304803;20350937;20368362;20391138;20429839;20431719;20453000;20496165;20522537;20534089;20541997;20557883;20574439;20575039;20644561;20651370;20670893;20720310;20731661;20817763;20864414;20865363;20957144;20981350;21148310;21611749;21866550;21880556;22081045;22174788;22314912;22321329;22379092;22467238;22941172;23038248;23152873;23178497;23194742;23251661;23272099;23746523;23818366;23861882;24063568;24083246;24135642;24249729;24250222;24696258;24950377;7565690;7598728;7700386;7835901;7876263;8197174;8197175;8294029;8504220;8543191;8954802;8999876;9013642;9653453;9671271;9698541 7507 F2Z2T2;P23025 ABBA01042928;AF503166;AI961077;AL162385;AL445531;AL531629;AMYH02021310;BC014965;BT019518;CB155090;CH471105;D14533;HG502281;KC899693;NG_011642;NM_000380;NR_027302;S89853;U10347;U16815;XM_006717278;XR_428536 AAA92883;AAB21861;AAB60404;AAH14965;AAM18969;AAV38325;ABM84550;ABM86349;AHF45877;BAA03403;EAW58855;NP_000371;P23025;XP_006717341 Hs.654364 1664525;1673282;1797044;2126125;2166953 D9S1714;RH46402;RH65875;STS-D14533;XPA_1273 RP11-244N9.4;XP1;XPAC DNA repair protein complementing XP-A cells;OTTHUMP00000021751;OTTHUMP00000021752;excision repair-controlling;mutant xeroderma pigmentosum complementation group A;xeroderma pigmentosum group A-complementing protein APPROVED protein-coding ENSG00000136936 HGNC:12814 02045 278700;611153 REVIEWED 1313662 XPOT exportin, tRNA This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008] 12 12 12 q14.2 64462903 64506901 + 64798153 64842464 + 64404373 64448684 + 1580863;6480464;8554872 10657246;10944119;11024021;12138183;12477932;15489334;16707848;17224653;17314511;18457437;18781797;20085707;20379614;20473970;20562859;21081666;21139048;21145461;21565611;21890473;22268729;22586326;22797925;22863883;22939629;22990118;23000965;23181366;23956138;24457600;24816145;25027693;9512417;9660920;9857198 11260 A8KA19;F5GYW6;F5GZM3;F8WDU6;O43592 ABBA01026603;AC135279;AF039022;AK292884;AK308108;AMYH02026662;BC000950;BC020569;BQ215290;CH471054;CR979468;NM_007235;Y16414 AAC39793;AAH00950;AAH20569;BAF85573;CAA76202;EAW97128;EAW97129;EAW97130;EAW97131;EAW97132;NP_009166;O43592 Hs.85951 2136067;2147125;2166257;5124966 D12S1146E;G17621;G20240;RH16726 XPO3 OTTHUMP00000239487;exportin(tRNA);exportin, tRNA (nuclear export receptor for tRNAs);exportin-T;tRNA exportin APPROVED protein-coding HGNC:12826 04418 603180 REVIEWED 1315237 XPR1 xenotropic and polytropic retrovirus receptor 1 ENCODES a protein that exhibits G-protein coupled receptor activity (inferred); receptor activity (inferred); transmembrane signaling receptor activity (inferred); INVOLVED IN G-protein coupled receptor signaling pathway (inferred); response to virus (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN integral component of plasma membrane (inferred); plasma membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; benzo[a]pyrene 1 1 1 q25.1 153708013 153966433 + 180601146 180859415 + 180632010 180890279 + 1580863;6480464;8554872 12477932;16354307;19322201;20379614;20410264;21139048;21890473;21906983;21963094;22090134;23829686;24255178;8619474;9110174;9927670;9988277;9990033 9213 Q9UBH6 AA425354;AB075495;ABBA01027789;ABBA01027790;ABBA01027791;AF089744;AF099082;AF115389;AK074789;AK309750;AL133058;AL137583;AL162431;AL358434;AL590085;AL603884;AMYH02002246;AMYH02002247;AMYH02002248;AMYH02002249;AMYH02002250;AMYH02002251;BC028576;BC041142;CH471067;CQ834682;CQ834686;DB461474;NM_001135669;NM_004736;U79279 AAD08928;AAD10196;AAD17211;AAH41142;CAB61383;CAB70825;CAH05556;CAH05558;EAW91086;EAW91087;NP_001129141;NP_004727;Q9UBH6 Hs.227656 1336602;1659883;1674460;1690936;1691190;1739005;1739917;1790197;1855710;1855712;2110043;2129852;2130849;2136312;2141409;2172037;2174440;2180729;2180731;5015619;5022598;5037552 1004;A005O32;A009E27;AL009988;AW531572;D11S3114;D1S117;D1S1967E;D1S2247;D1S2357;D1S2516;D1S2640;D1S308E;D1S3379;D8S2279;G20381;RH91144;RH93926;SHGC-75996;SHGC-76010;STS-N52057;XPR1_8914 FLJ90308;SYG1;X3 OTTHUMP00000033084;OTTHUMP00000033085;X-receptor;protein SYG1 homolog;xenotropic and polytropic murine leukemia virus receptor X3 APPROVED protein-coding ENSG00000143324 HGNC:12827 05574 605237 VALIDATED 1349181 XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2 This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 146907598 146937489 - 152343583 152373250 - 152646498 152676165 - 1580863;2317365;2317507;6480464;6907045;8662366;8554872 16540687;17986315;20690856 10422536;10517641;10749867;10871607;11285194;11301337;11744692;11751635;11834724;11842112;11842113;12023982;12023985;12477932;12975363;14578164;14645207;14704354;15010895;15065660;15066914;15115758;15123651;15126335;15184273;15339847;15364127;15386379;15459223;15489334;15734952;15958648;16195237;16214912;16284380;16284386;16485136;16609022;17018785;17078101;17141189;17557904;17604576;17685459;17922422;18046624;18086758;18188695;18270339;18383855;18410587;18579371;18824251;18830263;18990028;18990748;19064565;19064572;19074885;19116388;19124506;19124519;19127255;19192406;19237606;19339270;19367277;19536092;19573080;19690184;19692168;19772428;19773279;19789190;20004634;20127279;20150366;20189471;20403997;20453000;20496165;20522537;20610542;20813000;21104022;21276791;21632523;21906983;21974800;21988832;22464251;22611952;23054243;23362303;23539294;24189466;24250222;24414483;7607692;7711722;9126486;9628903;9660962 7516 O43543;Q68DV8 ABBA01035119;ABBA01035120;ABBA01035121;AC003109;AC104843;AF035587;AF520762;AK313607;AMYH02017096;AMYH02017097;BC042137;CH471173;CR749256;KF458636;NG_027988;NM_005431;Y08837;Y17033 AAC05369;AAC05802;AAH42137;AAM55241;BAG36372;CAA70065;CAA76597;CAH18112;EAW53967;EAW53968;NP_005422;O43543 Hs.647093 1746543;5016478;5020635;5024761 D7S3207;G64488;GDB:434012;RH36905 DKFZp781P0919 DNA repair protein XRCC2;OTTHUMP00000200066;RAD51-like;X-ray repair cross-complementing protein 2;X-ray repair, complementing defective, repair in Chinese hamster APPROVED protein-coding ENSG00000196584 HGNC:12829 02656 600375 REVIEWED 1353234 XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. The non-homologous end-joining pathway is required both for normal development and for suppression of tumors. This gene functionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks produced by ionizing radiation and restriction enzymes. Alternative transcription initiation and alternative splicing generates several transcript variants. [provided by RefSeq, Sep 2008] 5 5 5 q14.2 78277921 78554649 + 82373317 82649579 + 83077498 83353760 + 6480464;6907045;8662352;8698655;8554872 17901044;20192759 10202163;10320474;10757784;10786799;10854421;10945980;11062157;11702069;11809878;12091904;12218164;12477932;12509254;12517771;12547193;12589063;12750264;14561766;14576825;14607114;15177040;15177042;15194694;15380105;15385968;15489334;15520013;15680411;15746160;15840729;16169070;16189514;16275660;16291214;16344560;16412978;16439205;16478998;16485136;16571728;16713569;16728435;16741161;16835328;16964241;1697445;17097754;17124166;17241822;17272270;17290226;17317666;17353931;17396150;17557904;17567543;17606631;17963495;17987338;18029348;18046455;18158905;18164646;18165945;18177646;18246529;18270339;18383855;18410587;18458108;18579371;18630527;18676680;18768505;18773976;18830263;18852222;18952251;18990028;19064572;19074885;19092295;19103754;19116388;19170196;19237606;19332554;19408343;19443403;19471022;19536092;19573080;19625176;19661089;19692168;19729825;19773279;19789190;19837014;19861517;20150366;20232359;20331623;20332465;20453000;20496165;20522537;20610542;20683005;20726224;20811692;20813000;20844317;20852255;20920336;20975951;21139048;21353781;21506695;21575865;21617942;21768349;21775435;21785230;21788800;21890473;21906983;21936820;21982441;21987080;22102241;22183071;22287571;22659345;22939629;22994773;23390017;23442139;23620595;23663450;23788213;23794378;23924833;23994631;24053728;24062231;7665175;8548796;9242410;9259561;9259651;9352367;9430729;9809069;9875844 7518 Q13426;Q7Z763 AB017445;ABBA01062079;ABBA01062080;ABBA01062081;ABBA01062082;ABBA01062083;ABBA01062084;AC016568;AC022416;AC034211;AC094085;AF055278;AF055279;AK290739;AMYH02011710;AMYH02011711;AMYH02011712;AMYH02011713;AY940097;BC005259;BC010655;BC016314;BT007216;CH471084;DA067761;NM_003401;NM_022406;NM_022550;U40622;XM_005248595 AAC50339;AAD47297;AAD47298;AAH05259;AAH10655;AAH16314;AAP35880;AAX14046;ACE87045;BAB20668;BAF83428;EAW95897;EAW95898;EAW95899;EAW95900;EAW95901;EAW95902;NP_003392;NP_071801;NP_072044;Q13426;XP_005248652 Hs.567359 1335585;1339027;1661482;1709222;1722841;1785766;1788180;1788644;2118078;2132081 D5S1959;D5S2094;D5S2537;G16995;G60363;G67284;RH18150;RH66238;SHGC-83773;SHGC-85795 DNA repair protein XRCC4;OTTHUMP00000161995;OTTHUMP00000161996;OTTHUMP00000222360;OTTHUMP00000222361;X-ray repair cross-complementing protein 4;X-ray repair, complementing defective, repair in Chinese hamster APPROVED protein-coding ENSG00000152422 HGNC:12831 15951 194363 REVIEWED 1313986 XPC xeroderma pigmentosum, complementation group C This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] 3 3 3 p25.1 14124954 14158401 - 14186647 14220172 - 14145147 14178672 - 1599878;1580863;2317130;6480464;6907045;7240710;7246920;7246919;7246922;8554872;8699517 18559563;21763452;22572993;22824526;8298653 10214908;10447254;10488153;10583946;10734143;10873465;11259578;11279143;11872635;12177305;12242345;12477932;12486030;12496474;12505994;12509299;12713809;12815074;12890685;12944386;1461286;14688016;14690560;14729591;15010895;15107491;1522891;15231747;15231748;15302935;15353127;15471894;15489334;15494739;15533908;15623356;15657918;15661662;15700316;15729698;15731165;15746160;15837542;15849729;15863269;15878910;15882621;15886698;15914210;15914671;15922480;15964821;15992842;16002061;16030353;16043197;16061005;16081512;16086280;16105547;16258177;16284373;16351803;16373199;16393248;16399771;16492920;16510122;16527807;16533048;16537713;16571649;16627479;16794584;16820684;16823510;16858626;16957781;16965652;16985021;17052994;17078101;17081983;17086695;17088560;17119055;17154534;17164380;17164382;17196815;17325666;17363013;17374967;17438703;17498315;17508409;17531525;17550899;17575242;17653764;17657713;17682058;17684138;17685459;17705814;17712032;17825393;17882560;17897675;17913280;17923445;17932354;18024891;18035379;18053706;18067564;18089819;18097734;18177054;18196582;18270339;18285822;18320070;18478970;18544627;18574675;18630471;18645534;18676680;18682493;18685619;18701435;18709642;18771913;18774935;18785488;18809580;18830263;18838045;18854777;18955168;19027756;19059499;19074885;19116388;19124519;19170196;19177501;19237606;19270000;19280628;19350405;19434073;19446504;19471022;19478817;19536092;19538122;19609301;19625176;19661089;19692168;19706757;19714462;19759913;19789190;19805520;19878615;19889839;19892827;19902366;19924443;19941824;19953607;20054342;20056640;20061190;20106949;20150366;20157331;20193233;20199546;20201926;20232359;20301571;20360068;20368362;20369554;20377134;20391138;20429839;20453000;20460046;20488473;20496165;20522537;20571354;20575039;20601096;20616346;20649433;20649465;20658464;20731661;20817763;20887739;21047201;21104992;21113018;21123941;21139048;21149730;21167810;21192964;21273643;21327329;21338203;21390502;21426550;21482201;21559836;21671483;21676658;21689419;21693764;21733660;21751198;21861227;21890473;21906983;21962512;21963094;21987572;22038723;22039351;22126485;22166526;22174370;22211393;22213216;22321329;22331493;22431748;22505326;22505724;22519360;22682619;22902050;22939629;22941172;22968471;23000965;23143338;23244095;23246108;23253478;23269608;23319653;23381646;23400628;23422745;23604128;23621265;23673479;23751493;23776089;23801864;23819639;23830927;23892089;23984341;24051049;24093803;24258024;24264314;24277375;24318982;24338715;24375193;24385304;24607854;24722188;24816145;25118285;8088800;8125298;8168482;8604333;8692695;9164480;9372923;9372924;9415314;9734359;9804340 7508 E7EUB5;Q01831;X5DRB1 ABBA01025161;AC093495;AF261901;AI091587;AK222844;AK289761;AK295711;AK311039;AL710884;AMYH02006318;AY131066;BC016620;CH471055;D21089;EU530522;EU530523;EU530524;EU530525;EU530526;EU530527;EU530529;EU530531;EU530532;EU530533;EU530534;FJ695191;FJ695192;HM113488;KJ534962;KJ535085;NG_011763;NM_001145769;NM_004628;NR_027299;X65024;XR_427290 AAF87574;AAH16620;AAM77801;ACD74563;ACD74564;ACD74565;ACD74566;ACD74567;ACD74568;ACD74569;ACD74570;ACD74571;ACD74572;ACD74573;ADI50189;AHW56602;AHW56724;BAA04651;BAD96564;BAF82450;BAG58555;CAA46158;EAW64188;EAW64189;NP_001139241;NP_004619;Q01831 Hs.475538;Hs.739296 1675141;1731223;1731225;1797046;2173519 D3S1440;D3S1441;RH69460;STS-X65024;XPC_1288 RAD4;XP3;XPCC;p125 DNA repair protein complementing XP-C cells;OTTHUMP00000218039;mutant xeroderma pigmentosum group C APPROVED protein-coding ENSG00000154767 HGNC:12816 02046 278720;613208 REVIEWED 1315699 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 14 14 14 q32.3 84218198 84236079 - 104163945 104181823 - 103697608 103715486 - 1580863;1331525;2317130;6480464;6907045;7240710;8662366;8554872 15118671;18559563;20690856 10422536;10541549;11059748;11285194;11304692;11331762;11459987;11532866;11744692;11751635;11842113;12023982;12036913;12082022;12115490;12223443;12376526;12393447;12477932;12565173;12815008;12869411;12917199;14511439;14534887;14578164;14643949;14652281;14652287;14688016;14702039;14704354;14716019;14729591;15009726;15010895;15019159;15065660;15066914;15066923;15102670;15115758;15126335;15184273;15199549;15292210;15312685;15313891;15333465;15354414;15372620;15386379;15450429;15459223;15468052;15489334;15491645;15679883;15680411;15734952;15737490;15746160;15767338;15824172;15843498;15878096;15878910;15887211;15887293;15914210;15914277;15933498;15971256;15990020;15992842;16002061;16030112;16037119;16137195;16195237;16214912;16215984;16234265;16271954;16284380;16284386;16308313;16343742;16344560;16357593;16369171;16373199;16407418;16425350;16475125;16485136;16492913;16501254;16505003;16510122;16540687;16542436;16551674;16564556;16571649;16609022;16621732;16622263;16638864;16652373;16707649;16728435;16791138;16824555;16940014;16963196;16966185;16981340;16997330;17018785;17034901;17063276;17063279;17078101;17114795;17116943;17131345;17158087;17159780;17164360;17177211;17191090;17197435;17351336;17374967;17401013;17410042;17476281;17535647;17549067;17557904;17605237;17614221;17617021;17627014;17630853;17685459;17701750;17705814;17712032;17898541;17901044;17953974;17971348;17986315;18033323;18046624;18067130;18086758;18095557;18188695;18204928;18212739;18270339;18300452;18330515;18335219;18336773;18365755;18410587;18448328;18495522;18504145;18543213;18551366;18579371;18581889;18582155;18627000;18630471;18676680;18701435;18708406;18712175;18752184;18756535;18768166;18824251;18829510;18830263;18852222;18977234;18987609;18990748;19012493;19027952;19031937;19064565;19064572;19092295;19096231;19116388;19124506;19127255;19170196;19177501;19237606;19251090;19280628;19286843;19330829;19339270;19367277;19393248;19414392;19426727;19429237;19481674;19536092;19549356;19573080;19625176;19656722;19661089;19692168;19724896;19733688;19772428;19773279;19789190;19789975;19815090;19886181;19913121;19914098;19915856;19962393;20004634;20049524;20054644;20061190;20140625;20150366;20199546;20211142;20229274;20301425;20306073;20331623;20334523;20368715;20429839;20450923;20453000;20462983;20496165;20500515;20522537;20530453;20549576;20590474;20601096;20610542;20628086;20634891;20644561;20687897;20708344;20731661;20804747;20813000;20817763;20947146;20976253;21035470;21047201;21104022;21113933;21139048;21176850;21183201;21283680;21296419;21397596;21560306;21725251;21725594;21726821;21729596;21749698;21790234;21906983;21937297;21951951;21965664;21974800;22092501;22161248;22224629;22299591;22370935;22374424;22427030;22456434;22524842;22568010;22580644;22611952;22613844;22740138;22752646;22775506;22864780;23044807;23075580;23108668;23167352;23244079;23244135;23271025;23271134;23289442;23300009;23355119;23368530;23397959;23409158;23438602;23464476;23504553;23526128;23534771;23539294;23558966;23562721;23740134;23747401;23749486;23824570;23873110;23918307;23924833;23940523;23959014;23977219;23982880;23990458;23990873;23991984;24053728;24061639;24085356;24104500;24116071;24116196;24166604;24186073;24197973;24197974;24197983;24254304;24277376;24307625;24453273;24523020;24561991;24633885;24922659;7603995;9542526;9660962;975276 7517 G3V2L7;G3V2P3;G3V399;G3V3C8;G3V3H9;G3V3Q2;G3V5K0;O43542;Q53XC8 ABBA01048412;AF035586;AF037222;AF508041;AK022829;AK023646;AK124498;AK126706;AL049840;AMYH02029930;AX879837;AX883082;BC001036;BC002949;BC011725;BC073820;BT007417;BX161398;CH471061;DB041321;NG_011516;NM_001100118;NM_001100119;NM_005432;XM_005268046 AAC04805;AAC05368;AAH01036;AAH02949;AAH11725;AAM23015;AAP36085;ABM83088;ABM86281;BAG51121;BAG51212;BAG54042;CAD61884;CAE90683;CAE91829;EAW81837;EAW81838;EAW81839;EAW81840;EAW81841;EAW81842;NP_001093588;NP_001093589;NP_005423;O43542;XP_005268103 Hs.592325;Hs.733412 1688000;1797048;2132027 G36094;RH93079;XRCC3_1114 CMM6 DNA repair protein XRCC3;OTTHUMP00000240458;OTTHUMP00000246666;OTTHUMP00000246667;OTTHUMP00000246668;RAD51-like;X-ray repair cross-complementing protein 3 APPROVED protein-coding ENSG00000126215 HGNC:12830 07201 114480;600675;613972 REVIEWED 1602597 XRCC6BP2 XRCC6 binding protein 2 q32.11 10219089 654443 Q9Y6H2 AF078528 AAD31086;Q9Y6H2 KUB4 protein-coding HGNC:32439 1323025 XPO5 exportin 5 This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011] 6 6 6 p21.1 45041689 45095433 - 43490068 43543812 - 43522330 43576075 - 4144860;6480464;8554872 19965479 10574462;11777942;12168954;12426392;12426393;12477932;12509441;12702765;14570900;14574404;14631048;14681208;14702039;14730017;15231748;15254228;15489334;15613540;16196087;16344560;17314511;17353931;18029348;19047128;19124606;19138993;19738201;20211803;20379614;20467438;20585341;20721975;20732906;20819778;20951941;21048991;21139048;21297638;21890473;21906983;21963094;22190034;22539802;22586326;22623428;22678362;22766726;22863883;22939629;23000965;23022380;23181366;23464991;23549446;23667531;23956138;24057215;24209753;24250222;24816145;25036637 57510 E2QRM3;H0Y3Q8;H0Y3W3;H0Y9I3;H0YA57;Q9HAV4 AB033117;ABBA01050673;ABBA01050674;ABBA01050675;ABBA01050676;ABBA01050677;ABBA01050678;AF271159;AF298880;AK001195;AK022718;AK023431;AK024301;AK025864;AK056619;AK127513;AK291452;AL137467;AL355802;AL834207;AMYH02013648;AMYH02013649;AMYH02013650;BC000129;BC008347;BC009969;BC062635;BF108994;CH471081;DB068849;KF458158;KF510953;NM_020750 AAG17907;AAG53603;AAH00129;AAH08347;AAH09969;AAH62635;BAA86605;BAA91547;BAB14200;BAB14572;BAF84141;BAG51288;BAG51767;CAB70753;EAX04206;EAX04207;NP_065801;Q9HAV4 Hs.203206 1339486;1753367;1854795;1856171;2178284;2182049;2190889;7185385;7186157 D6S1161E;D6S1340;D6S1888;D6S271;MARC_10377-10378:999102157:1;RH18413;SHGC-107161 FLJ14239;FLJ32057;FLJ45606;KIAA1291;exp5 OTTHUMP00000016472;OTTHUMP00000224035;exportin-5;ran-binding protein 21 APPROVED protein-coding ENSG00000124571 HGNC:17675 06385 607845 VALIDATED 1605901 XRCC6BP1 XRCC6 binding protein 1 ENCODES a protein that exhibits DNA-dependent protein kinase activity (inferred); metal ion binding (inferred); metalloendopeptidase activity (inferred); INVOLVED IN double-strand break repair via nonhomologous end joining (inferred); protein phosphorylation (inferred); proteolysis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; calcitriol 12 12 12 q14.1 57994050 58009658 + 58335324 58351052 + 57941541 57957269 + 6480464;8554872 10219089;11571779;12477932;23670597 91419 H0YIJ9;Q9Y6H3 ABBA01026690;AC084033;AF078164;AMYH02026599;BC012776;BC033881;BC115381;BC115382;CH471054;NM_033276;XM_005269223;XM_005276865;XM_006719689;XM_006725148 AAD31085;AAH12776;AAH33881;AAI15382;AAI15383;ADZ16060;EAW97091;NP_150592;Q9Y6H3;XP_005269280;XP_005276922;XP_006719752;XP_006725211 Hs.61188 1675602;1677216 RH79979;RH94258 KUB3;MGC134817;MGC134818 Ku70 binding protein 3;Ku70-binding protein 3;OTTHUMP00000243933;XRCC6-binding protein 1;mitochondrial inner membrane protease ATP23 homolog protein-coding ENSG00000166896 HGNC:29452 17256 PROVISIONAL 735365 XPO1 exportin 1 The protein encoded by this gene mediates leucine-rich nuclear export signal (NES)-dependent protein transport. Exportin 1 specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jul 2008] 2 2 2 p15 61550297 61610634 - 61705069 61765440 - 61477934 61538305 - 1580863;6480464;6484113;6907045;8554872 10202161;10209022;10330396;10347184;10358091;10381392;10430904;10518602;10601307;10604476;10611974;10668806;10779340;10786834;10835362;10875611;10882110;10891499;10944119;11118210;11119609;11149927;11152524;11238447;11309306;11313479;11425870;11545741;11551912;11571268;11604520;11716535;11779848;11782423;11836381;11839808;11884594;11889117;11932251;12065584;12070164;12089160;12134013;12134041;12176322;12196506;12210765;12217955;12239324;12477932;12493914;12517958;12519765;12529437;12676962;12724356;12773398;12805458;12821127;12860972;12861014;12915405;14554087;14612415;14617633;14630927;14702039;14729966;15117971;15126627;15175654;15189895;15239126;15302935;15364930;15489334;15507209;15513923;15556946;15574331;15574332;15574333;15632073;15635413;15790592;15814838;15815621;15908946;16041368;16140268;16196087;16263121;16294017;16314522;16319068;16354571;16449650;16484227;1648487;16504563;16511568;16552725;16580684;16675447;16707848;16895915;16943420;17053781;17064665;17099693;17110338;17141982;17142760;17148452;17314511;17363900;17405816;17616652;17643375;17661632;17711849;17715235;17726064;17764157;17869244;18059333;18245089;18246793;18256292;18306389;18316374;18508616;18606808;18624354;18641393;18687685;18715912;18781797;18809582;18923137;18976462;18976975;19020832;19082467;19117056;19149558;19149559;19322201;19339969;19339972;19342232;19412186;19435492;19454010;19471022;19522705;19535902;19536614;19545931;19574837;19591226;19738201;19812309;19828735;19858290;19946888;20003838;20012529;20018238;20018851;20026644;20085707;20127713;20151187;20233715;20360068;20473970;20562859;20712566;20805509;20857263;20935510;20953181;20972448;21044950;21048991;21064154;21081666;21139048;21251165;21252943;21268017;21358275;21364925;21364984;21378169;21518760;21522132;21613532;21683812;21708948;21750575;21799930;21888622;21890473;21906983;21909257;21953454;21963094;21988832;22053931;22111374;22114565;22171254;22174317;22190034;22250199;22262852;22266855;22284678;22289179;22318151;22334690;22348310;22355797;22421880;22448038;22500989;22505724;22555597;22586326;22623428;22675540;22677130;22678362;22783232;22832492;22833565;22846997;22863883;22933280;22939629;22965172;23000965;23034282;23079374;23082981;23115280;23125841;23175358;23181366;23242554;23251541;23264634;23275444;23464991;23471078;23564911;23588715;23729730;23752175;23754689;23825024;23850451;23850454;23950892;23956138;24013421;24018641;24026662;24113472;24457600;24478440;24530126;24686850;24816145;25027693;25036637;7543368;7634337;7637788;7745679;7878053;8633082;9049309;9070945;9111043;9205132;9311922;9323132;9323133;9368044;9368759;9837918 7514 B3KWD0;C9IYM2;C9IZS4;C9J673;C9JF49;C9JKM9;C9JQ02;C9JV99;F8WF71;H7BZC5;O14980 ABBA01075356;ABBA01075357;ABBA01075358;ABBA01075359;ABBA01075360;AC016727;AK094339;AK124769;AK289920;AK299039;AK312426;AK316481;AL833550;AMYH02003928;AMYH02003929;AMYH02003930;BC032847;BX492941;BX643790;BX647758;BX954288;CH471053;CR749840;D89729;NM_003400;XM_005264544;XM_005264546;XM_006712094;XM_006712095;XM_006712096;XM_006712097;Y08614 AAH32847;AAY14949;ABM82197;BAA23415;BAF82609;BAG54092;BAG61113;BAH14852;CAA69905;CAH18695;CAH56174;EAW99993;EAW99994;EAW99995;NP_003391;O14980;XP_005264601;XP_005264603;XP_006712157;XP_006712158;XP_006712159;XP_006712160 Hs.370770 1685279;2133973;2160538;5015404;5016478;5021872;5022200;5022322;5022578;5024605;5037552 D11S2560;D1S1423;D8S2279;GDB:434012;L17705;L18426;RH12025;RH46337;RH75489;RH80312;sY3084 CRM1;DKFZp686B1823;emb;exp1 CRM1, yeast, homolog;Exportin-1 (required for chromosome region maintenance);OTTHUMP00000201470;OTTHUMP00000201494;OTTHUMP00000201496;chromosome region maintenance 1 homolog;chromosome region maintenance 1 protein homolog;exportin 1 (CRM1 homolog, yeast);exportin 1 (CRM1, yeast, homolog);exportin-1 APPROVED protein-coding ENSG00000082898 HGNC:12825 03975 602559 REVIEWED 7241631 XRCC6P1 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 1 10 10 10 q23.33 88707828 88710598 - 94966412 94968921 - 93206655 93209164 - 387703 ABBA01021878;AL159171;AMYH02023551;NG_028753 1675275 SGC34657 pseudo HGNC:45183 INFERRED 7241748 XRCC6P2 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 2 X X X q28 149647364 149657368 - 149399267 149438002 - 150231047 150269789 - 15640154;15778293;22108332;22118674 389901 ABBA01037093;ABBA01037094;AC235697;AMYH02040761 1341199;1675275;1787412;2127601;2167010 AFMB021XF1;D22S1245;DXS8086;SGC34657;SHGC-79468 pseudo HGNC:45184 MODEL 7241604 XRCC6P3 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 3 1 1 1 q41 193706287 193708279 - 220487051 220489072 - 220313709 220315730 - 17455244 127086 ABBA01048080;AL451081;AMYH02002731;NG_022752 pseudo HGNC:45185 INFERRED 1350899 XRCC8 X-ray repair complementing defective repair in Chinese hamster cells 8 8879275 7521 HGNC:12834 7241677 XRCC6P5 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 5 X X X q22.1 99237095 99715342 - 98716600 99194841 - 99461602 99939843 - 17712032 442459 ABBA01064225;ABBA01064226;ABBA01064227;ABBA01064228;ABBA01064229;ABBA01064230;ABBA01064231;ABBA01064232;ABBA01064233;ABBA01064234;ABBA01064235;ABBA01064236;ABBA01064237;ABBA01064238;ABBA01064239;ABBA01064240;ABBA01064241;ABBA01064242;ABBA01064243;ABBA01064244;ABBA01064245;ABBA01064246;ABBA01064247;ABBA01064248;ABBA01064249;ABBA01064250;ABBA01064251;ABBA01064252;ABBA01064253;ABBA01064254;ABBA01064255;ABBA01064256;ABBA01064257;ABBA01064258;ABBA01064259;ABBA01064260;ABBA01064261;ABBA01064262;ABBA01064263;ABBA01064264;ABBA01064265;ABBA01064266;ABBA01064267;ABBA01064268;ABBA01064269;ABBA01064270;ABBA01064271;ABBA01064272;ABBA01064273;AL022148;AL137843;AL358953;AL390027;AL590293;AL606759;AMYH02040045;AMYH02040046;AMYH02040047;AMYH02040048;AMYH02040049;AMYH02040050;AMYH02040051;EU224311;KF459247;KF459253;KF459254;NR_024608 ABW96212 Hs.706599 1737175;2057666;2123164;2140447;2151150;2164852 D11S3038;DXS7136;DXS7148;L30070;L38944;REN100006 pseudo HGNC:45187 VALIDATED 7241793 XRCC6P4 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 4 8 8 8 59757761 59759783 - 63767644 63769693 - 62855085 62857100 - 100422546 ABBA01041833;AC087358;AMYH02018068;NG_026031 pseudo HGNC:45186 INFERRED 1349596 XS X-linked suppressor of LU antigens 7523 HGNC:12837 309050 732846 XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 25823724 25866486 + 42017250 42060052 + 41621163 41664048 + 1580863;704404;6480464;6907045;8662352;8698657 16497868;20192759 10026262;10064605;10207052;10213687;10219089;10377944;10400681;10409678;10446239;10508516;10514012;10570175;10591208;10750018;10757784;10783163;10823961;10880505;10984620;11070027;11112778;11158303;11162511;11196700;11238996;11239001;11279128;11314007;11328876;11406603;11457852;11493912;11749722;11790298;11796732;11821378;12023295;12065431;12091904;12145306;12145307;12145308;12145309;12171929;12177300;12324457;12368356;12377759;12467650;12477932;12494870;12509254;12518983;12519782;12547193;12551933;12664628;12664629;12672812;12750264;12756247;12867423;12897160;14570916;14627815;14702039;14734561;14991539;15019772;15023334;15075319;15100233;15123719;15140983;15159402;15220460;15231748;15302935;15367688;1537839;15383276;15385968;15461802;15489334;15520013;15613478;15635413;15640154;15723802;15782130;15824061;15827325;15905197;15910003;15958648;16009940;16051665;16055720;1608402;16097034;16159877;16166097;16169070;16196087;16226712;16291214;16344560;16360032;1639139;16407974;16440001;16448389;16490787;16541024;16713581;16794079;16857680;17124166;17159921;17187679;17202845;17213819;17220478;17242407;17283121;17304248;17308091;17314511;17334224;17361185;17389609;17389650;17479409;17496833;17617666;17620599;17671430;17714764;17725712;17768380;17885668;17952468;17971348;17982634;18000863;18164703;18208821;18303113;18362350;18374504;18385154;18406329;18487076;18546291;18706726;18710944;18757043;18768166;18781797;18809223;18850631;18990028;19041431;19064572;19074885;19116388;19118032;19134120;19135240;19177010;19181665;19219618;19237606;19247369;19251090;19265193;19303849;19394292;19408343;19467273;19471022;19661379;19666485;19672258;19692349;19738201;19750561;19794960;19805454;19809793;19833092;19906305;19913121;19946888;20020773;20047046;20080577;20127252;20157594;20224553;20360068;20368362;20383123;20394854;20453000;20493174;20496165;20496270;20504901;20522537;20538911;20570964;20610542;20628086;20697560;20711232;20718578;21042724;21042904;21044950;21070772;21075794;21081666;21107697;21108727;21113133;21116096;21139048;21145461;21146485;21172662;21187428;21209461;21252943;21256093;21304054;21349273;21398614;21423092;21454661;21512205;21521024;21549307;21556760;21575261;21575865;21671178;21679440;21693764;21756904;21825151;21847364;21853274;21888893;21890473;21900206;21906983;21907836;21963094;21969602;21972126;21987572;21988832;22037767;22053931;22079093;22108332;22118674;22178446;22179609;22226402;22322857;22399625;22412018;22442688;22446626;22455395;22505724;22524845;22535209;22586326;22593040;22617044;22623428;22745744;22751105;22797925;22863883;22939629;22990118;22993329;23000965;23098447;23145133;23154512;23182705;23184937;23247197;23271361;23322783;23329831;23349316;23393345;23443559;23457464;23463506;23620595;23624778;23650516;23677788;23745766;23863879;23926104;24140708;24147044;24187467;24244333;24250222;24305947;24324074;24332808;24382701;24457600;24583282;2466842;24695737;24816145;25027693;2917966;7882982;7957065;8240370;8422676;8524317;8621488;8702520;8760815;8954777;9200330;9223317;9312071;9362500;9430697;9488450;9742108;9798959;9826654;9914162 2547 B1AHC9;B4DE32;B4E356;F5H1I8;P12956 ABBA01055648;ABBA01055649;ABBA01055650;AK055786;AK293439;AK304580;AK315618;AMYH02038444;AMYH02038445;AMYH02038446;AY870329;BC001583;BC008343;BC010034;BC012154;BC018259;BC072449;BI222708;BQ217843;BU584415;BU751953;BU902323;CD683757;CH471095;CR456492;CR542219;CS330042;CS545602;DA647513;DA718140;DB057280;DC383335;DC386009;HH794620;J04607;J04611;M32865;NM_001288976;NM_001288977;NM_001288978;NM_001469;S38729;Z83840 AAA36155;AAA51733;AAA61177;AAB22381;AAH08343;AAH10034;AAH12154;AAH18259;AAH72449;AAW34364;ABZ92421;ACE86491;ACE87172;BAG37986;BAG51575;BAG56943;BAG65368;CAG30378;CAG47015;CAK54520;CAK54819;CAL00149;CAN36299;CBX87167;EAW60446;EAW60447;EAW60448;NP_001275905;NP_001275906;NP_001275907;NP_001460;P12956 Hs.292493;Hs.730702 1675275;1682361;1689486;1788314;1789835;1847511;2127601;2127603;2218540;5015837;5022172;5022333 D10S2161;D22S1245;D22S1267;D22S731;G22P1_2710;G67490;GDB:190933;RH11334;RH27888;SGC34657;WI-18866;csnpg22p1-pcr12-2 CTC75;CTCBF;G22P1;KU70;ML8;TLAA 5'-dRP lyase Ku70;5'-deoxyribose-5-phosphate lyase Ku70;70 kDa subunit of Ku antigen;ATP-dependent DNA helicase 2 subunit 1;ATP-dependent DNA helicase II 70 kDa subunit;ATP-dependent DNA helicase II, 70 kDa subunit;CTC box binding factor 75 kDa subunit;CTC box-binding factor 75 kDa subunit;DNA repair protein XRCC6;Ku autoantigen p70 subunit;Ku autoantigen, 70kDa;OTTHUMP00000199331;OTTHUMP00000199332;OTTHUMP00000199333;OTTHUMP00000199334;OTTHUMP00000199335;OTTHUMP00000199349;X-ray repair cross-complementing protein 6;lupus Ku autoantigen protein p70;thyroid autoantigen 70kD (Ku antigen);thyroid autoantigen 70kDa (Ku antigen);thyroid-lupus autoantigen p70 APPROVED protein-coding ENSG00000196419 HGNC:4055 01071 152690 REVIEWED 733855 XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008] 2 2 2 q35 210743609 210840560 + 216972381 217071016 + 216107658 216206293 + 1580863;6480464;6907045;8662352;8698657;8698653;8698655 16497868;17901044;20192759;20463177 10026262;10207052;10213687;10219089;10340383;10400681;10409678;10446239;10514012;10535943;10673353;10750018;10757784;10783163;10823961;10880505;10984620;11070027;11158303;11196700;11239001;11279128;11328876;11406603;11443112;11493912;11739746;11741501;11937624;11985783;12017286;12023295;12065431;12077346;12091904;12145306;12145310;12145311;12145312;12171929;12177300;12324457;12377759;12391174;12393188;12403924;12467650;12477932;12518983;12519782;12547193;12672812;12750264;12756247;12867423;12897160;12937274;14511439;14617623;14702039;14704337;14734561;15023334;1505945;15075319;15100233;15123719;15140983;15220460;15342556;15367688;15377652;1537839;15383534;15385968;15489334;15520013;15561718;15613478;15635413;15640154;15680411;15723802;15758953;15817152;15824061;15824172;15910003;16009940;16014171;16051665;16137195;16166097;16196087;16212417;16291214;1631138;16440001;16448389;16490787;16537541;16541024;16713581;16794079;16857680;17124166;17158748;17159921;17187679;17214517;17220478;17242407;17283121;17289874;17308091;17314511;17342744;17355791;17389609;17389650;17396150;17496833;17507472;17534116;17620599;17626748;17671430;17725712;17904587;17943968;17982634;17984099;18000863;18029348;18164703;18252799;18385154;18386192;18403903;18406329;18415044;18457437;18579371;18676680;18706726;18768166;18781797;18809223;18936166;19013454;19064572;19074885;19118032;19170196;19177010;19181665;19192406;19205005;19217823;19237606;19251090;19303849;19341103;19394292;19408343;19414375;19471022;19528488;19536092;19625176;19661089;19661379;19666485;19672258;19692168;19715578;19738201;19750561;19794960;19805454;19833092;19893054;19906305;19946888;20020773;20023628;20044645;20047046;20080577;20157594;20195511;20201926;20232390;20379614;20453000;20496165;20504901;20522537;20610542;20639865;20644561;20668194;20711232;20811636;20811692;20819778;20873769;20890109;21042724;21070772;21075794;21081666;21113133;21116096;21123545;21137076;21139048;21145461;21172662;21196465;21209461;21252943;21304054;21319273;21349273;21349997;21454661;21512205;21521024;21547134;21549307;21575865;21640108;21663524;21679440;21684294;21756904;21825151;21853274;21855630;21877955;21890473;21906983;21907836;21942715;21963094;21971347;21987572;21988832;22027142;22053931;22079093;2211668;22118674;2212941;22226402;22226916;22265216;22266820;22362780;22404984;22446626;22505724;22535209;22586326;22623428;22751105;22863883;22939629;22952844;22990118;23000965;23020778;23022196;2308937;23098447;23178593;23181744;23182705;23184937;23220236;23322783;23329831;23344954;23438482;23457464;23463506;23620595;23621240;23667531;23677788;23703321;23788213;23910615;23922776;23982877;24140708;24187467;24250222;24271118;24332808;24390425;24457600;24583282;24654937;24816145;25015289;25027693;2760028;7882982;7957065;8021251;8031790;8073286;8088837;8125298;8240370;8586433;8621488;8702520;8760815;9214634;9312071;9325337;9358055;9442054;9488450;9542526;9636207 7520 C9JZ81;H7C0H9;P13010 ABBA01062812;ABBA01062813;AC008123;AC009521;AC010686;AC012513;AF039597;AK026166;AK096408;AK222603;AK290740;AMYH02005757;BC019027;BC095442;BG717693;BP375944;BU184024;CH471063;DQ787434;HH794622;J04977;M30938;NG_029780;NM_021141;X57500;XM_005246836;XM_005246837 AAA36154;AAA59475;AAC52087;AAH19027;AAH95442;AAY14659;AAY24231;ABG46942;ABM83586;ABM86851;BAD96323;BAF83429;CAA40736;CBX87168;EAW70562;EAW70563;NP_066964;P13010;XP_005246893;XP_005246894 Hs.388739 1339562;1668421;1701312;1788076;1788078;1788080;1788082;1788084;1791618;1791620;1793514;1798320;1848326;2119441;2125793;2128181;2167890 A004W06;D2S2382;D2S2606;D2S2881;G67228;G67229;G67230;G67231;G67232;HSC2AF082;PMC117391P1;PMC117391P2;PMC22716P1;RH104285;SHGC-11966;SHGC-33338;XRCC5_1894 CTC85;CTCBF;FLJ39089;KARP-1;KARP1;KU80;KUB2;Ku86;NFIV;TLAA 86 kDa subunit of Ku antigen;ATP-dependent DNA helicase 2 subunit 2;ATP-dependent DNA helicase II 80 kDa subunit;CTC box-binding factor 85 kDa subunit;DNA repair protein XRCC5;Ku autoantigen, 80kDa;Ku86 autoantigen related protein 1;OTTHUMP00000164061;OTTHUMP00000206791;X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining, Ku autoantigen, 80kD);X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining, Ku autoantigen, 80kDa);X-ray repair cross-complementing protein 5;X-ray repair, complementing defective, repair in Chinese hamster;lupus Ku autoantigen protein p86;nuclear factor IV;thyroid-lupus autoantigen;x-ray repair complementing defective repair in chinese hamster cells 5 APPROVED protein-coding ENSG00000079246 HGNC:12833 08935 194364 REVIEWED 1320991 XRN2 5'-3' exoribonuclease 2 This gene shares similarity with the mouse Dhm1 and the yeast dhp1 gene. The yeast gene is involved in homologous recombination and RNA metabolism, such as RNA synthesis and RNA trafficking. Complementation studies show that Dhm1 has a similar function in mouse as dhp1. The function of the human gene has not yet been determined. Transcript variants encoding different isoforms have been noted for this gene; however, their full-length nature is not known. [provided by RefSeq, Jul 2008] 20 20 20 p11.2-p11.1 21360521 21444351 + 21283942 21370463 + 21303304 21389825 + 1580863;6480464;6907045;8554872 10409438;11230166;11780052;12429849;12477932;14527413;14702039;15231747;15302935;15489334;15565158;15635413;16147866;16648491;16964243;17043677;17081983;17639083;18029348;18955505;19915612;19946888;20020773;21139048;21145461;21252943;21700224;21890473;21903422;21906983;21963094;21987572;22113938;22178446;22446626;22483619;22505724;22522706;22586326;22939629;22980978;23000965;23277564;23398456;23443559;23857582;24332808;24457600;24550385;24591637;24778252;24816145;25027693 22803 B4DZC3;Q9H0D6 ABBA01054101;ABBA01054102;ABBA01054103;AF064257;AF152169;AK000084;AK001573;AK172858;AK302846;AK303312;AK314602;AL117332;AL136841;AL158013;AMYH02036814;AMYH02036815;AMYH02036816;AY382900;BC000315;BC006417;BC032075;BC131775;BC142960;BF665945;BU620774;CF994999;CH471133;NM_012255 AAD55138;AAH06417;AAI31776;AAI60100;AAQ13577;AAR24369;BAA90934;BAG50941;BAG64035;BAG64381;CAB66775;EAX10186;EAX10187;NP_036387;Q9H0D6 Hs.255932 1334874;1686546;1727237;1754577;2140099;2147413;2170877;7186215 D20S190;G62873;RH65531;RH93448;SHGC-132862;SHGC-53620;WI-10427 DHP protein;Dhm1-like protein (mouse homolog);OTTHUMP00000030403 APPROVED protein-coding ENSG00000088930 HGNC:12836 10309 608851 REVIEWED 1353683 XWNPEP X-tryptophanyl aminopeptidase (aminopeptidase W) 7524 HGNC:12838 6480859 XXYLT1-AS1 XXYLT1 antisense RNA 1 3 q29 195094588 195096057 + 100874528 ABBA01001619;AC106705;AMYH02008462;BF509707;HG496538;NR_104188 Hs.581659 AC106705.2 APPROVED ncrna ENSG00000233303 HGNC:41153 VALIDATED 732968 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 40850091 40882209 - 44047464 44079730 - 43543312 43575578 - 1331525;1580863;1578408;2302570;2302571;2302572;2302567;2302568;2302577;2302578;2302580;2302573;2302574;2302569;2302575;2302566;2302852;2293824;2302576;2302855;2317128;2317367;6480464;6907045;7246935;8552678;8554872 15118671;15760950;15854596;16221808;16510122;16520463;16596238;16596326;16963196;17290401;17381415;17412650;17425776;17491266;18199464;18582155;18752184;18765423;18851872;19051060;19266243;21601536;9763211 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997;20411322;20426969;20429839;20431719;20439344;20442803;20450747;20453000;20466601;20471329;20477822;20495366;20496165;20504250;20511665;20514470;20522537;20530453;20549339;20553853;20574454;20577654;20601096;20610542;20628086;20634891;20644561;20652227;20708344;20719408;20723587;20731661;20734048;20802378;20805321;20813000;20814250;20817763;20819327;20850372;20852942;20863523;20863780;20868244;20935060;20935063;20957144;20975374;20976253;20978448;20981350;21029695;21037106;21047201;21048041;21057378;21091896;21129812;21145461;21167658;21183201;21204762;21216841;21234761;21245954;21252943;21267572;21277872;21290343;21345510;21351625;21351626;21352951;21353781;21376741;21418871;21420246;21423097;21427728;21435086;21463129;21463130;21499756;21518531;21520294;21570215;21586140;21599457;21604176;21612998;21617750;21622940;21627375;21643959;21645210;21647176;21670956;21682595;21704413;21722819;21749698;21784313;21788800;21790234;21797115;21808882;21816818;21825151;21843798;21860547;21866464;21890473;21909257;21928248;21945240;21950097;21971103;21974800;21983886;21987112;22009704;22041025;22047709;22053659;22081374;22106831;22110224;22129893;22135187;22183071;22186158;22193858;22224629;22242598;22266871;22281126;22296363;22296379;22302399;22306120;22320953;22332413;22339849;22374554;22393969;22393975;22427030;22452940;22456434;2247054;22502651;22502666;22505724;22524842;22529951;22537351;22549274;22551904;22565339;22568010;22575451;22579466;22580644;22611936;22639094;22659345;22664944;22687647;22705987;22712837;22729882;22730687;22775506;22798271;22821704;22825692;22843073;22850545;22868082;22894650;22901125;22919255;22931768;22932335;22939629;22951806;22975644;22982660;22983827;22984511;22992732;23001975;23044807;23055018;23055199;23057594;23096083;23098440;23101479;23103366;23125080;23161045;23167352;23167354;23167420;23177933;23188703;23212324;23225521;23233244;23238971;23244082;23244100;23244143;23271025;23271134;23299794;23313170;23317230;23317245;23320983;23334690;23355608;23359058;23360319;23375119;23383237;23397959;23409158;23425027;23430444;23435956;23451157;23454624;23464463;23464469;23464476;23479135;23479765;23493666;23496911;23499241;23534722;23534771;23543084;23546985;23552977;23553206;23618615;23636799;23653378;23662987;23669291;23673479;23679314;23681796;23684781;23700156;23704969;23708312;23712607;23712778;23717668;23733202;23740134;23774147;23780894;23807675;23857281;23868975;23872202;23884604;23886187;23892592;23893380;23918303;23919819;23943371;23959014;23983608;23984316;23990873;23996617;24018491;24039945;24048757;24052436;24053728;24057881;24096581;24157118;24175813;24175846;24176953;24194393;24205020;24205095;24250222;24258108;24277466;24289608;24292986;24332808;24363792;24377605;24390232;24402573;24409475;24414482;24435745;24446299;24457600;24470137;24477575;24492938;24511730;24519065;24526467;24590265;24590266;24694255;24816145;24922669;2591959;7545953;7585546;7789989;8264637;8432525;8978692;9136882;9485007;9542526;9584196;9705932;9776979 7515 B2RCY5;F5H8D7;M0QYS5;M0QZ96;M0R0D2;M0R1U8;P18887;Q59HH7 AB208781;ABBA01040862;ABBA01040863;AC018758;AF512504;AK293542;AK300163;AK315332;AMYH02036166;AMYH02036167;BC023593;BP349667;CH471126;CR456728;KC877750;L34079;M36089;NG_033799;NM_006297;Z23736 AAA63270;AAG09061;AAH23593;AAM34791;BAD92018;BAG37732;BAG57023;BAG61945;CAG33009;EAW57201;EAW57202;EAW57203;NP_006288;P18887 Hs.98493 1340506;1659188;1688847;1729283;1729345;1729347;1729349;1729351;1729353;1729355;2123487;2128125;2134605 D10S2482;D19S408;G64133;G64145;G64146;G64148;G64149;G64150;G64200;RH17697;RH48808;SHGC-2304;SHGC-30018 RCC DNA repair protein XRCC1;X-ray repair cross-complementing protein 1;X-ray-repair, complementing defective, repair in Chinese hamster;x-ray repair cross-complementing group 1 protein APPROVED protein-coding ENSG00000073050 HGNC:12828 01909 194360 REVIEWED 1345440 XXYLT1 xyloside xylosyltransferase 1 ENCODES a protein that exhibits transferase activity, transferring pentosyl groups (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; cobalt dichloride 3 3 3 q29 193204274 193400324 - 194789008 194991895 - 195068279 195271166 - 737633;6480464;8554872 12477932 14702039;15489334;16303743;16344560;19322201;20876614;21145461;21890473;21963094;22117070 152002 F8WEN6;H7C2F4;Q8NBI6 ABBA01001612;ABBA01001613;ABBA01001614;ABBA01001615;ABBA01001616;ABBA01001617;ABBA01001618;ABBA01001619;AC090018;AC106705;AK057046;AK075551;AK092474;AK301133;AMYH02008462;AMYH02008463;AMYH02008464;AMYH02008465;BC019036;BC039067;CH471052;CS051443;DA575404;NM_152531;XM_005269282;XM_005269283;XM_005269284;XM_005269285;XM_005269286;XM_005269287;XM_005269288;XM_006713511;XM_006713512 AAH19036;AAH39067;BAB71355;BAC03899;BAC11694;BAG62725;CAI72215;EAW78028;EAW78029;EAW78030;NP_689744;Q8NBI6;XP_005269339;XP_005269340;XP_005269341;XP_005269342;XP_005269343;XP_005269344;XP_005269345;XP_006713574;XP_006713575 Hs.478741;Hs.744847 1720517;1757043;1765957;2115159 A002S34;G59212;SHGC-144408;SHGC-149353 C3orf21;FLJ35155 OTTHUMP00000208915;OTTHUMP00000208916;UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase;hypothetical protein LOC152002;uncharacterized protein C3orf21 APPROVED protein-coding ENSG00000173950 HGNC:26639 08757 614552 VALIDATED 7243080 XXYLT1-AS2 XXYLT1 antisense RNA 2 3 3 q29 194868600 194873585 + 195147871 195152856 + 7566098 101410543 AA344494;AA344559;ABBA01001617;AC106705;AI307804;AMYH02008463;AW963078;NR_102710;NR_102711;R83154 Hs.658170 ncrna ENSG00000230266 HGNC:41154 VALIDATED 1348971 XRN1 5'-3' exoribonuclease 1 This gene encodes a member of the 5'-3' exonuclease family. The encoded protein may be involved in replication-dependent histone mRNA degradation, and interacts directly with the enhancer of mRNA-decapping protein 4. In addition to mRNA metabolism, a similar protein in yeast has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly. Mutations in this gene are associated with osteosarcoma, suggesting that the encoded protein may also play a role in bone formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 3 3 3 q23 140448929 140590249 - 142025449 142166904 - 142306607 142448062 - 1580863;6480464;6907045;8554872 11329013;12426100;12477932;12515382;14527413;14580940;14702039;15231747;15489334;17081983;17148452;17314511;17545563;18029348;18172165;18423202;19946888;20020773;21139048;21145460;21890473;21906983;22505724;22586326;23142987;23248316;23471000;23517755;24163370;24332808;24457600;24816145;9049243;9802570 54464 B4E2K3;C9JCZ8;F8WDA0;H7C583;H7C5E4;Q8IZH2 ABBA01059024;ABBA01059025;ABBA01059026;ABBA01059027;ABBA01059028;ABBA01059029;AC023508;AC109992;AK096177;AK123897;AK304312;AL117516;AL133623;AMYH02007815;AMYH02007816;AMYH02007817;AMYH02007818;AY137776;BC039314;BC048104;BC078146;BG197321;BX640905;CH471052;CR627160;CR627396;CR749518;HC879400;HD033109;NM_001282857;NM_001282859;NM_019001;XM_005247544;XM_006713671;XM_006713672;XM_006713673 AAH39314;AAH48104;AAI41556;AAN11306;BAC04718;BAG53979;BAG65165;CAB63749;CAE45950;CAH10490;CAH18332;CBM42916;CBV35649;EAW78971;EAW78972;EAW78973;NP_001269786;NP_001269788;NP_061874;Q8IZH2;XP_005247601;XP_006713734;XP_006713735;XP_006713736 Hs.435103 1654297;1656842;1657991;1674581;1700872;1724219;1851007;2113724;2150490;5491826 16STS01;AB048929;RH104062;RH121246;RH46274;SHGC-33459;SHGC-56571;STS-T66948;STS-U76308;WI-13749 DKFZp434P0721;DKFZp686B22225;DKFZp686F19113;FLJ41903;SEP1 OTTHUMP00000214507;OTTHUMP00000214577;OTTHUMP00000214578;strand-exchange protein 1 homolog APPROVED protein-coding ENSG00000114127 HGNC:30654 10470 607994 REVIEWED 737486 XYLT1 xylosyltransferase I This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009] 16 16 16 p12.3 16738145 17106289 - 17196181 17564738 - 17102324 17470881 - 634510;1580863;2313138;2313142;2313145;2313136;2313146;6480464;6907045;7240710;8699517;8554872 11099377;16759312;17003309;18095597;18765417;19001053 10383739;11087729;11814476;12477932;15294915;15461586;16133423;16164625;16225459;16569644;16571645;16778156;17189266;17635914;17980567;18029348;18294457;18763033;19014925;19197251;19762916;20301292;20379614;21150319;22479506;23223231;23322567;23333304;23747722;23982343;24581741 64131 Q86Y38 ABBA01006948;ABBA01006949;ABBA01006950;ABBA01006951;AC009152;AC099494;AC109446;AI524006;AJ277441;AJ539163;AK000198;AL050125;AMYH02031550;AMYH02031551;AMYH02031552;BC036692;BC045778;BU620961;BX647541;CH471203;KC877595;NG_015843;NM_022166 AAI56040;CAC16787;CAD62248;EAW50949;NP_071449;Q86Y38 Hs.22907;Hs.737758 1339571;1340285;1649867;1661294;1677456;1717073;1718795;1755183;1767411;1783402;2137828;2146647 D16S3017;D16S3103;G17888;RH121453;RH123101;RH48006;RH48339;RH48694;RH98909;SHGC-142101;SHGC-154898;SHGC-6763 DBQD2;PXYLT1;XT-I;XT1;XTI;xylT-I O-xylosyltransferase 1;OTTHUMP00000160436;XYLTI;beta-D-xylosyltransferase 1;peptide O-xylosyltransferase 1;xylosyltransferase 1;xylosyltransferase iota APPROVED protein-coding ENSG00000103489 HGNC:15516 12168 264800;608124;615777 REVIEWED 1316534 XYLB xylulokinase homolog (H. influenzae) The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. [provided by RefSeq, Aug 2009] 3 3 3 p22-p21.3 38323884 38392347 + 38388251 38456467 + 38346760 38414976 + 1580863;6480464;6907045 10231028;12477932;14702039;19389651;20379614;21890473;21906983;21963094;22939629;23027762;23179721;9763671 9942 C9J0N9;F8WBF6;O75191 AB015046;ABBA01024820;ABBA01024821;ABBA01024822;ABBA01024823;ABBA01024824;ABBA01024825;AK001205;AK022601;AK025728;AK293325;AK314386;AMYH02006568;AMYH02006569;AMYH02006570;AP006191;AP006193;BC030231;BC039712;BC052984;BC137076;BC137080;BI090475;CH471055;NM_005108;XM_006713448;XM_006713449;XM_006713450;XR_245171 AAH30231;AAI37077;AAI37081;BAA31527;BAG37011;BAG50868;BAG56843;EAW64531;EAW64532;EAW64533;EAW64534;NP_005099;O75191;XP_006713511;XP_006713512;XP_006713513 Hs.659985 1335766;1340758;2218882;5015619;5037552;7186241 D11S3114;D3S1260;D3S3639;D8S2279;XYLB__4916 FLJ10343;FLJ12539;FLJ22075 OTTHUMP00000161968;xylulose kinase APPROVED protein-coding ENSG00000093217 HGNC:12839 06812 604049 REVIEWED 1315329 YAE1D1 Yae1 domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; copper(2+) sulfate 7 7 7 p14.1 39593539 39600016 + 39605984 39651681 + 39566376 39612089 + 737633;6480464;8554872 12477932 12690205;12853948;14702039;15489334;16169070;16341674;19615732;21145461;21832049;21900206;23318452;23891004;8889549;9847074 57002 B2RC46;C9IZ57;Q9NRH1 AA157293;ABBA01058143;AC004837;AC011290;AF226046;AK096857;AK293511;AK314937;AMYH02015562;AMYH02015563;BC022043;BM767075;CH236951;CH471073;CR457198;NM_001282446;NM_020192 AAF86946;AAH22043;AAQ96864;ABM83755;ABM87073;ABM87074;BAG37443;BAG56994;CAG33479;EAL23993;EAW94120;NP_001269375;NP_064577;Q9NRH1 Hs.72168;Hs.83313 1689005;1723055;2141808;2168684 RH121880;RH65082;SHGC-33366;SHGC-57265 C7orf36;GK003 OTTHUMP00000158871;OTTHUMP00000207664;hypothetical protein LOC57002;uncharacterized protein C7orf36;yae1 domain-containing protein 1 APPROVED protein-coding ENSG00000241127 HGNC:24857 16669 VALIDATED 1313568 XRRA1 X-ray radiation resistance associated 1 INVOLVED IN response to X-ray; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH cyclosporin A; potassium dichromate (ortholog) 11 11 11 q13.4 71858507 71966797 - 74550655 74660232 - 74840910 74949187 - 6480464;8554872 12477932;12908878;14702039;16344560;16751776;17295261 143570 E9PIR2;E9PJ58;E9PL06;E9PMT6;E9PP69;H0YD10;Q6P2D8;Q8TEH2 ABBA01017476;ABBA01017477;AF439934;AK056364;AK074152;AK091449;AMYH02025111;AP000560;AP001992;AY163836;BC037294;BC040541;BC064584;BK000541;CH471076;CR749605;DA104497;DB040217;DB082524;DQ581943;DQ587665;KC877432;NM_001270380;NM_001270381;NM_182969;XM_005273765;XM_005273766;XM_005273767;XM_005273768;XM_005273769;XM_005273770;XM_005273771;XM_005273773;XM_005273774;XM_006718432;XM_006718433;XM_006718434;XM_006718435;XM_006718436 AAH64584;AAO23657;AAP97315;BAB84978;BAG52364;CAH18400;DAA00367;EAW74950;EAW74951;NP_001257309;NP_001257310;NP_892014;Q6P2D8;XP_005273822;XP_005273823;XP_005273824;XP_005273825;XP_005273826;XP_005273827;XP_005273828;XP_005273830;XP_005273831;XP_006718495;XP_006718496;XP_006718497;XP_006718498;XP_006718499 Hs.370145 1644329;1651515;1656321;1689031;1697494;1775687;1782488;1848059;1986748;2150460;2167804;2180912;2181426;5493928 AB072776;D11S1230;D11S2255E;D11S3966;REN64276;RH102249;RH17472;RH18485;RH35834;RH67963;RH93541;SGC34365;SHGC-172586;STS-R11335 OTTHUMP00000230030;OTTHUMP00000230109;X-ray radiation resistance-associated protein 1;XRRA1 {ECO:0000312|EMBL:AAH64584.1} protein-coding ENSG00000166435 HGNC:18868 609788 VALIDATED 3277197 YAP1P2 Yes-associated protein 1 pseudogene 2 X X X 114738814 114739599 + 114303639 114304424 + 115069076 115069861 + 100419909 ABBA01053641;AL121878;AMYH02040272;NG_022692 pseudo HGNC:38017 INFERRED 6482764 YAP1P3 Yes-associated protein 1 pseudogene 3 6 6 6 127690894 127692072 - 126948623 126949801 - 126627477 126628655 - 100419883 ABBA01025941;AL359535;AMYH02014442;NG_025861 pseudo HGNC:43890 INFERRED 1316914 YARS tyrosyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008] 1 1 1 p35.1 31509662 31552283 - 33240840 33283633 - 32775239 32818032 - 1580863;6480464;7240710;8554872;8699517 10102815;10438485;11856731;11927599;11956181;12016229;12416978;12427973;12477932;12509991;12665801;14606043;14671330;14702039;15489334;15779907;15840810;16196087;16429158;17353931;17676665;18029348;18096501;18976975;19477417;19561293;19738201;20301532;20639865;20972266;21139048;21319273;21442253;21732632;21890473;21906983;21963094;22053931;22291016;22505724;22623428;22863883;22939629;23000965;23334919;24611875;24654937;24816145;25015289;8125298;8552597;9162081;9427763 8565 P54577 ABBA01023398;ABBA01023399;ABBA01023400;ABBA01023401;ABBA01023402;ABBA01023403;ABBA01023404;AC114489;AC114493;AK026535;AK125213;AK126444;AK127182;AK127879;AK223608;AMYH02000718;AMYH02000719;AMYH02000720;BC001933;BC004151;BC016689;BC035242;CH471059;HB892438;HB904994;HB909583;HB931028;HC949847;HC962403;HC966992;HC988437;HI179134;NG_008408;NM_003680;U40714;U89436 AAB39406;AAB88409;AAH01933;AAH04151;AAH16689;ABM82592;ABM85779;BAD97328;BAG54166;CBF71274;CBF84232;CBF89282;CBG00408;CBU95132;CBV01176;CBV03421;CBV13928;CBX53875;EAX07506;EAX07507;EAX07508;NP_003671;P54577 Hs.213264 1643937;1659521;1666576;1781110;1848292;1854752;2108645;2134998;2185414;2187658;5014051;5015619;5015861;5015961;5022578;5022651;5024039;5024510;5037552;7183248;7185938 AL009604;D10S16;D11S2921;D11S3114;D13S1552;D15S1477;D16S325;D1S1423;D1S233;D5S1389;D8S2278;D8S2279;RH64745;SHGC-74484;SHGC-74542;SHGC-74549;SHGC-74550;STS-R16166;YARS_8832;stdJ1070N10T7 CMTDIC;TYRRS;YRS;YTS OTTHUMP00000004027;tyrosine tRNA ligase 1, cytoplasmic;tyrosine--tRNA ligase, cytoplasmic;tyrosyl--tRNA ligase;tyrosyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000134684 HGNC:12840 09153 603623;608323 REVIEWED 1314421 YAP1 Yes-associated protein 1 This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013] 11 11 11 q13 99142746 99265700 + 101981151 102104154 + 102110420 102233423 + 1580863;6480464;6484113;8699517;7240710;8554872 10228168;10562288;11278422;11278685;11358867;11604498;11743730;12118366;12477932;12535517;12807903;15023535;15096513;15161933;15302935;15324660;15800888;15893728;16061658;16596258;16772533;16894141;16964243;17081983;17110958;17438369;17502622;17823615;17889654;17889669;17974916;17980593;18158288;18175224;18280240;18413746;18565851;18617895;18640976;18701449;18703216;18725387;18953429;19015275;19047365;19111660;19158374;19322201;19371381;19615732;19705503;19797269;19914168;19919647;19935651;19952108;20016275;20048001;20153295;20219076;20226166;20379614;20677011;20729916;20823509;20841485;20842732;20868367;20947521;20951342;21041410;21041411;21076472;21112960;21116278;21118971;21139048;21170084;21187284;21205866;21224387;21317925;21346147;21364637;21383157;21399893;21454516;21610251;21654799;21666501;21685363;21685940;21708480;21800344;21832154;21856745;21874045;21900206;21906983;21909427;21981024;22012126;22017875;22024089;22042863;22056638;22096589;22098159;22234184;22286761;22308035;22337891;22385262;22396793;22436626;22499345;22544757;22558212;22609549;22618028;22632819;22641346;22689061;22707013;22843909;22863277;22863883;22885925;22895435;22921829;22939629;22939869;22948661;22993325;23027127;23027379;23058008;23060277;23158133;23160371;23178811;23232767;23245941;23298488;23298489;23333314;23333315;23340296;23422184;23449627;23502453;23527718;23532963;23535732;23542177;23544078;23558963;23564455;23576552;23594797;23613971;23667252;23673988;23685355;23727052;23737213;23760493;23762387;23870412;23897276;23949920;23994529;23994632;24003252;24003254;24023255;24086533;24101154;24101467;24101513;24106267;24106282;24115727;24211253;24223879;24225952;24255178;24268772;24324261;24362629;24367099;24369055;24380865;24462371;24482231;24511017;24606817;24648515;24682895;24726915;24728461;24813251;24833660;24884509;24954536;7644498;7782338;9202023;9305852 10413 H0YCI3;K0KVU2;P46937;Q86T74 AA854862;AB567720;AB567721;ABBA01039941;ABBA01039942;ABBA01039943;ABBA01039944;ABBA01039945;ABBA01039946;ABBA01039947;AI128142;AK300414;AK304485;AK310620;AK316116;AL832620;AMYH02025477;AMYH02025478;AMYH02025479;AMYH02025480;AMYH02025481;AP000942;AP001527;AP002777;AY316529;BC026212;BC038235;BU073244;CH471065;CX780993;DC419625;HE864159;HE864160;HE864161;HE864162;HE864163;JA780906;JA780908;KF495838;NG_029530;NM_001130145;NM_001195044;NM_001195045;NM_001282097;NM_001282098;NM_001282099;NM_001282100;NM_001282101;NM_006106;X80507;XM_005271378;XM_005271380;XM_005271381;XM_005271383 AAH38235;AAP92710;BAG62143;BAG65295;BAH14487;BAJ41471;BAJ41472;CAA56672;CAD89963;CCH22597;CCH22598;CCI79618;CCI79619;CCI79620;CCI79621;CCI79622;EAW67011;EAW67012;EAW67013;EAW67014;EAW67015;NP_001123617;NP_001181973;NP_001181974;NP_001269026;NP_001269027;NP_001269028;NP_001269029;NP_001269030;NP_006097;P46937;XP_005271435;XP_005271437;XP_005271438;XP_005271440 Hs.503692 1340595;1342105;1675830;1676590;1688869;1704672;1718849;1748471;1753177;2121891;2127199;7186499 D11S1339;D11S1762;D11S2249E;HUM000S656;RH123128;RH41050;RH47129;RH91842;SHGC-110032;SHGC-32695;SHGC-77975 COB1;YAP;YAP2;YAP65;YKI 65 kDa Yes-associated protein;OTTHUMP00000235694;OTTHUMP00000235695;OTTHUMP00000235696;OTTHUMP00000235697;Yes-associated protein 1, 65kDa;yes-associated protein 2;yes-associated protein beta;yes-associated protein delta;yorkie homolog APPROVED protein-coding ENSG00000137693 HGNC:16262 09424 120433;606608 REVIEWED 1606290 YARS2 tyrosyl-tRNA synthetase 2, mitochondrial This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011] 12 12 12 p11.21 12720156 12729572 - 32878195 32908895 - 32725361 32755961 - 6480464;7240710;8554872;8699517 10810093;12477932;14702039;15489334;15779907;15840810;16344560;17353931;17672918;17997975;19615732;20186120;20360068;20598274;20877624;21139048;21145461;21963094;22504945;22939629;24250222;24344687;24457600;24816145;8889548 51067 H0YHS6;Q9Y2Z4 ABBA01031704;AC084824;AC087588;AF132939;AI861961;AK024057;AK026619;AK130935;AMYH02026307;BC015625;BM979973;CF594113;CH471116;DA748673;EB386795;NG_028122;NM_001040436;XM_005253381;XR_242891;XR_242892;XR_429036 AAD27714;AAH15625;ABM83989;ABM87314;BAB14806;EAW88517;EAW88518;NP_001035526;Q9Y2Z4;XP_005253438 Hs.505231;Hs.706015 2183680 G35326 CGI-04;FLJ13995;MLASA2;TYRRS;mt-TyrRS OTTHUMP00000241174;tyrosine tRNA ligase 2, mitochondrial;tyrosine--tRNA ligase;tyrosine--tRNA ligase, mitochondrial;tyrosyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000139131 HGNC:24249 13025 610957;613561 REVIEWED 1314010 YAF2 YY1 associated factor 2 The protein encoded by this gene interacts with YY1, a zinc finger protein involved in negative regulation of muscle-restricted genes. This gene product itself contains a single N-terminal C2-X10-C2 zinc finger, and in contrast to YY1, is up-regulated during myogenic differentiation. It also facilitates proteolytic cleavage of YY1 by the calcium- activated protease, m-calpain, suggesting a mechanism by which this protein antagonizes the negative effect of YY1. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010] 12 12 12 q12 41352740 41433972 - 42550906 42632154 - 42157104 42238352 - 6480464 11593398;11953439;12004135;12477932;12706874;15489334;16344560;17081983;18029348;19240061;20379614;21145461;21530438;21890473;22325352;23000965;23455922;24457600;9016636 10138 F8VRE5;F8VZR2;F8W0B9;G3V1X5;G3V212;G3V219;J3KNM5;Q8IY57 AA789222;ABBA01031396;ABBA01031397;ABBA01031398;AC020629;AI654632;AK127531;AK291355;AK294260;AK296191;AMYH02026353;AMYH02026354;AMYH02026355;BC037777;BX649019;CH471111;DA011078;DA491895;NM_001190977;NM_001190979;NM_001190980;NM_005748;NR_034000;XM_006719183;XM_006719184;XM_006719185;XR_245884;XR_245886 AAH37777;ABZ92154;ABZ92285;BAF84044;BAG57554;BAG58921;EAW57834;EAW57835;EAW57836;EAW57837;EAW57838;EAW57839;EAW57840;NP_001177906;NP_001177908;NP_001177909;NP_005739;Q8IY57;XP_006719246;XP_006719247;XP_006719248 Hs.649195;Hs.708084 1856855;2118145;2219760;5017601;5022651;5037552 D11S2921;D12S1198E;D12S1424;D8S2279;YAF2;YAF2__4917 DKFZp779H1820;MGC41856 OTTHUMP00000240953;OTTHUMP00000240954;OTTHUMP00000240955;YY1-associated factor 2 APPROVED protein-coding ENSG00000015153 HGNC:17363 09606 607534 REVIEWED 3322381 YAP1P1 Yes-associated protein 1 pseudogene 1 6 6 6 q24.3 148468469 148469861 + 147728025 147729417 + 147406889 147408281 + 23897914 442266 ABBA01025713;ABBA01025714;AL355365;AMYH02014666;NG_022376 pseudo HGNC:38016 INFERRED 1344488 YBX1P1 Y box binding protein 1 pseudogene 1 14 14 14 q23.3 46538216 46539711 - 66479151 66480651 - 66012433 66013933 - 2977358;7628487 50631 ABBA01023729;AL391261;AMYH02029383;L37516;NG_001276 2173356;5021326 RH70784;Ybx1 NSEP1P;PSDBPB1 pseudo HGNC:8015 INFERRED 1626569 YBX1P2 Y box binding protein 1 pseudogene 2 INTERACTS WITH (-)-epigallocatechin 3-gallate; cadmium atom; paracetamol 7 7 7 q22.3 100027420 100028958 - 105222302 105223854 - 105581855 105583407 - 6480464 21906983 646531 ABBA01057943;AC073073;AMYH02016482;CH236947;NG_006863 1791840 PMC127671P1 pseudo HGNC:22635 INFERRED 5144333 YBX1P10 Y box binding protein 1 pseudogene 10 9 9 9 p13.1 35904511 35906024 - 35970941 35972454 - 35970944 35972457 - 7628487 158373 ABBA01023129;AL135841;AMYH02019469;NG_003008 1791840;5021326 PMC127671P1;Ybx1 BA327L3.4 pseudo HGNC:42432 INFERRED 731564 XYLT2 xylosyltransferase II The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] 17 17 17 q21.33 44884666 44899786 + 48423393 48440512 + 50346032 50361185 + 634510;6480464;6907045;7240710;8554872 11099377 10383739;11087729;11814476;12477932;12975309;15489334;16164625;16569644;17003309;17194707;18023272;18763033;18789912;19014925;19197251;19289103;19389916;20301292;22886070;8889548;9588955 64132 B4DT06;D6RCT0;H0YB00;I3L3K2;Q9H1B5 ABBA01041239;AC015909;AJ277442;AK299999;AMYH02033589;AY358090;BC017084;BC036069;BC052262;BM726479;BQ018370;CH471109;NG_012175;NM_022167;NR_110010;XM_005257572 AAH52262;AAI56445;AAQ88457;BAG61818;CAC16788;EAW94626;EAW94627;NP_071450;Q9H1B5;XP_005257629 Hs.463416;Hs.718822 2164269;5022578;5024039;5037552 D16S325;D1S1423;D8S2279;RH69808 PXYLT2;XT-II;XT2;xylT-II OTTHUMP00000221156;OTTHUMP00000221157;OTTHUMP00000221158;UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase;peptide O-xylosyltransferase 1;xylosyltransferase 2 APPROVED protein-coding ENSG00000015532 HGNC:15517 16286 264800;608125 REVIEWED 5687833 YBX1P3 Y box binding protein 1 pseudogene 3 3 3 q13.31 114649388 114650296 + 114930541 114931449 + 100861556 ABBA01061634;AC092915;AMYH02007462;NG_032054 pseudo HGNC:42424 INFERRED 1318661 YBEY ybeY metallopeptidase (putative) ENCODES a protein that exhibits metal ion binding (inferred); metalloendopeptidase activity (inferred); INVOLVED IN proteolysis (inferred); rRNA processing (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; paracetamol; valproic acid 21 21 21 q22.3 32818701 32831436 + 47706250 47733020 + 46286336 46313102 + 6480464 10830953;11707072;12477932;16341674;18624398;20877624 54059 P58557;Q8TBC8 ABBA01021761;ABBA01021762;AI262212;AK128875;AK294975;AMYH02037954;AMYH02037955;AP000471;AY040873;AY040874;AY040875;AY040876;BC022828;BC068100;BC119770;BC122865;BC131553;BG473705;BM796288;CH471079;NM_001006114;NM_058181;XM_005261153;XM_005261154;XM_005261155;XM_005261156 AAH22828;AAI19771;AAI22866;AAI31554;AAK74138;AAK74139;AAK74140;AAK74141;BAH11937;EAX09288;EAX09289;EAX09290;EAX09291;EAX09292;EAX09293;EAX09294;EAX09295;NP_001006114;NP_478061;P58557;XP_005261210;XP_005261211;XP_005261212;XP_005261213 Hs.474066 1673018;2182680 SHGC-52108;SHGC-87728 C21orf57;FLJ46907 OTTHUMP00000115778;OTTHUMP00000115779;OTTHUMP00000115780;OTTHUMP00000115782;OTTHUMP00000115783;putative metalloprotease C21orf57;putative ribonuclease;rRNA maturation factor homolog APPROVED protein-coding ENSG00000182362 HGNC:1299 10754 VALIDATED 5687832 YBX1P5 Y box binding protein 1 pseudogene 5 5 5 q13.2 71713387 71714161 + 72417560 72418334 + 100861569 ABBA01061905;AC093278;AMYH02011553;NG_032056 pseudo HGNC:42426 INFERRED 5144729 YBX1P6 Y box binding protein 1 pseudogene 6 9 9 9 q31.3 82794460 82795913 - 112294786 112296751 - 109532506 109534471 - 402375 ABBA01042761;AL162733;AMYH02021439;AMYH02021440;NG_030460 pseudo HGNC:42427 INFERRED 5686984 YBX1P8 Y box binding protein 1 pseudogene 8 X X p11.23 46544223 46544933 - 46684788 46685498 - 100861476 ABBA01052241;AL022165;AMYH02039261;NG_032031 FLJ20344 pseudo HGNC:42429 INFERRED 5685723 YBX1P7 Y box binding protein 1 pseudogene 7 2 2 133246128 133246968 - 132488555 132489395 - 100861431 ABBA01028213;AC098800;AMYH02004815;NG_032001 pseudo HGNC:42428 INFERRED 5686948 YBX1P9 Y box binding protein 1 pseudogene 9 1 1 q42.12 226505715 226506404 - 226318014 226318703 - 100861470 ABBA01009641;AL359742;AMYH02002815;NG_032027 pseudo HGNC:42430 INFERRED 7823599 YBX2P1 Y box binding protein 2 pseudogene 1 10 10 q 125751207 125752187 + 123991691 123992671 + 100124332 ABBA01016372;AL683842;AMYH02023972;NG_006652 pseudo HGNC:49498 INFERRED 1346098 YBX3P1 Y box binding protein 3 pseudogene 1 16 16 16 p11.2 28714040 28729685 + 31579088 31580845 - 31567767 31569524 - 10343102 440359 ABBA01042098;AC106730;AI183563;AMYH02031854;BI826429;DB451883;DB459603;DB520886;DB525052;NR_027011;Y17508 Hs.650902 1685892;1725805;1736542;1853284;2151003;2173601 D16S2544E;G07129;G61989;IB391;RH69102;WI-20104 CSDAP1 APPROVED pseudo HGNC:2429 PROVISIONAL 1604990 YDJC YdjC homolog (bacterial) ENCODES a protein that exhibits hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (inferred); INVOLVED IN carbohydrate metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; copper atom; copper(0) 22 22 22 q11.21 5799918 5801880 - 21982378 21999017 - 21628089 21644728 - 6480464;8554872 12477932;18177738;20190752;21102463;21383967;21963094;22505724;23128233;23222517;24390342 150223 A8MPS7 ABBA01055055;AMYH02038120;AP000553;BC017281;BC053663;BC057814;BC096754;BC110075;BC110799;BC133043;BC133047;BI597711;BQ050386;CH471095;NM_001017964;XM_005261347;XM_005261348 A8MPS7;AAI10076;AAI33044;AAI33048;EAW59461;EAW59462;EAW59463;EAW59464;NP_001017964;XP_005261404;XP_005261405 Hs.355952 1681690 RH94069 MGC133160 OTTHUMP00000198563;UPF0249 protein ydjC homolog;YdjC homolog protein-coding ENSG00000161179 HGNC:27158 18559 VALIDATED 732883 YBX1 Y box binding protein 1 ENCODES a protein that exhibits DNA binding; poly(A) RNA binding; RNA binding; INVOLVED IN CRD-mediated mRNA stabilization; regulation of transcription, DNA-templated; PARTICIPATES IN cisplatin drug pathway; p53 signaling pathway; ASSOCIATED WITH Anemia, Refractory; Myocardial Infarction (ortholog); FOUND IN CRD-mediated mRNA stability complex; cytoplasm; cytoplasmic stress granule; INTERACTS WITH (Z)-3-butylidenephthalide; 5-fluorouracil; all-trans-retinoic acid 1 1 1 p34 41429993 41449949 + 43148060 43168024 + 42682389 42702353 + 1580637;1580630;6480464;8548475;8662965 14604279;16002047;20046924;20679336 10082537;10318844;10559330;10573156;10809782;10817758;10906122;11162447;11175333;11698476;11731270;11751932;11788582;11851341;11907223;11973333;12080043;12168660;12192037;12226669;12379116;12477932;12565174;12604611;12646178;12674497;12695516;12743601;12777385;12917425;14559993;14718551;14752049;15123725;15136035;15146077;15146197;15229244;15327898;15489334;15592455;15615704;15702969;15735691;15750632;15806160;15840729;16055720;16093352;16101161;16159877;16196087;16198352;16251272;16354698;16415342;16455055;16508950;16797541;17081983;17267499;17289661;17332742;17339575;17361185;1738588;17418094;17459055;17572683;17595327;17620599;17643375;17674968;17686777;17822788;17967494;18029348;18075498;18172301;18258596;18307537;18316615;18335541;18377424;18571458;18781797;18800033;18809583;18851979;18854154;1891370;18978732;19029303;19036157;19098458;19135240;19151767;19167051;19174163;19323802;19343720;19411069;19454010;19483673;19517610;19523114;19561594;19648825;19713745;19738201;19805454;19838214;19901122;19930682;19996271;20004191;20011972;20017303;20190818;20332234;20398058;20431927;20596676;20599698;20696395;20838384;20844753;20856196;20929136;20929326;20972266;20972445;21067243;21083641;21138866;21139048;21145461;21150319;21151833;21170361;21182205;21245151;21282530;21344396;21369783;21392397;21423216;21518489;21565611;21595987;21630125;21642987;21652770;21695211;21730024;21781495;21849455;21890473;21906983;21909940;21963094;21968648;21987172;21987572;21988832;22053931;22095225;22095791;22113938;22118674;22134169;22145905;22215526;22268729;22280412;22284440;22339596;22365833;22417301;22505724;22519956;22590640;22615490;22619371;22623428;22674792;22730292;22772059;22787154;22797925;22843890;22855482;22863883;22939629;22967496;22990118;23000965;23084401;23125841;23151878;23160378;23178914;23184937;23216250;23254330;23285076;23398456;23402259;23438482;23443559;23462806;23463506;23499936;23589019;23613305;23658892;23672612;23749898;23775496;23804301;23822148;23825951;23838318;23851501;23872051;23973329;23986595;24044901;24075827;24107631;24165022;24211838;24217978;24260353;24260892;24335958;24378923;24443788;24457600;24729449;24816145;25027693;2977358;3174636;7628487;7651426;7862639;8188694;8254772;8657568;8871564;9409758;9461420;9472608;9830047;9927044 4904 C9J5V9;H0Y449;P67809 ABBA01023129;ABBA01050974;AC098484;AK309996;AK311708;AMYH02000881;BC000064;BC002411;BC010430;BC013838;BC015208;BC018393;BC020164;BC038384;BC065571;BC070084;BC071708;BC072014;BC090038;BC098435;BC106045;CH471059;CN353145;J03827;L28809;M24070;M83234;M85234;NM_004559;X96666;XM_005270904;Z70765 AAA20871;AAA35750;AAA36569;AAA59949;AAA61308;AAH00064;AAH02411;AAH10430;AAH15208;AAH18393;AAH20164;AAH38384;AAH65571;AAH70084;AAH71708;AAH72014;AAH90038;AAH98435;AAI06046;ABM82535;ABM85728;CAA65446;EAX07148;EAX07149;NP_004550;P67809;XP_005270961 Hs.473583 1692196;1766141;1791840;5021326;5024642 AL033735;PMC127671P1;RH79815;SHGC-149519;Ybx1 BP-8;CBF-A;CSDA2;CSDB;DBPB;EFI-A;MDR-NF1;MGC104858;MGC110976;MGC117250;NSEP-1;NSEP1;YB-1;YB1 CCAAT-binding transcription factor I subunit A;DNA-binding protein B;OTTHUMP00000008731;OTTHUMP00000008732;OTTHUMP00000038221;Y-box transcription factor;Y-box-binding protein 1;enhancer factor I subunit A;major histocompatibility complex, class II, Y box-binding protein I;nuclease sensitive element binding protein 1;nuclease-sensitive element-binding protein 1 protein-coding ENSG00000065978 HGNC:8014 01095 154030 VALIDATED 5144723 YBX1P4 Y box binding protein 1 pseudogene 4 7 7 7 q36.1 146383481 146384301 + 151825922 151826741 + 152128837 152129656 + 100131012 ABBA01035141;AC006017;AMYH02017083;NG_011685 2183661 STS-AA004589 pseudo HGNC:42425 INFERRED 1347752 YEATS2 YEATS domain containing 2 YEATS2 is a scaffolding subunit of the ADA2A (TADA2A; MIM 602276)-containing (ATAC) histone acetyltransferase complex (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010] 3 3 3 q27.1 181858780 181973588 + 183415587 183530413 + 183697799 183812625 + 1580863;6480464;8554872 10574462;12477932;14702039;15302935;15489334;18838386;19471022;19505873;20379614;21139048;21252943;21693764;21906983;21963094;22145905;22939629 55689 H0Y6M6;Q9ULM3 AB033023;ABBA01058472;ABBA01058473;AC068769;AC131160;AK001063;AK022903;AK023370;AK090720;AK091654;AMYH02008292;AMYH02008293;AMYH02008294;AMYH02008295;AMYH02008296;BC009276;BC032368;BC043393;BC082270;BC150273;CA416892;CH471052;NM_018023;XM_005247597;XM_005247598;XM_006713688;XR_427369 AAH32368;AAH82270;AAI50274;BAA86511;BAB14546;EAW78315;EAW78316;EAW78317;NP_060493;Q9ULM3;XP_005247654;XP_005247655;XP_006713751 Hs.632575 1339688;1656403;1686382;1762799;1766301;1849189;2116464;2116466;2169713;2172113;5015881;5016478;5022450;5022578;5022651;5037552;5109281;5491360 D10S275;D11S2921;D18S817;D1S1423;D1S1425;D3S3830;D3S4245;D8S2279;FH3117;GDB:335751;GDB:434012;RH93286;SHGC-146579;SHGC-149652;SHGC-77589;SHGC-77593;SHGC-77596;STS-R06585 FLJ10201;FLJ12841;FLJ13308;FLJ33401;FLJ34335;KIAA1197 OTTHUMP00000210964;YEATS domain-containing protein 2 APPROVED protein-coding ENSG00000163872 HGNC:25489 07652 613373 VALIDATED 6481197 YEATS2-AS1 YEATS2 antisense RNA 1 100874113 AC131160 APPROVED ncrna HGNC:41101 1606288 YBX2 Y box binding protein 2 This gene encodes a nucleic acid binding protein which is highly expressed in germ cells. The encoded protein binds to a Y-box element in the promoters of certain genes but also binds to mRNA transcribed from these genes. Pseudogenes for this gene are located on chromosome 10 and 15. [provided by RefSeq, Feb 2012] 17 17 17 p13.1 7216218 7222523 - 7191571 7197876 - 7288252 7294557 - 6480464;8554872 10100484;12477932;14702039;15489334;16344560;16479255;16624424;16751776;18339382;18372033;20378615;21890473;21906983;21963094;21987572;22505724;23000965;23463506;23752268;9780336 51087 I3L2D6;Q9Y2T7 AB208818;ABBA01054857;AC003688;AF096834;AI805280;AK092747;AK315035;AMYH02032896;BC033800;BC047760;CH471108;DB065912;NM_015982 AAD30662;AAH33800;AAH47760;BAD92055;BAG37519;EAW90223;EAW90224;EAW90225;NP_057066;Q9Y2T7 Hs.567494 1652841;2182995 RH78284;STS-T79836 CSDA3;DBPC;MGC45104;MSY2 CONTRIN;DNA-binding protein C;MSY2 homolog;Y-box-binding protein 2;germ cell specific Y-box binding protein;germ cell-specific Y-box-binding protein APPROVED protein-coding ENSG00000006047 HGNC:17948 18311 611447 VALIDATED 733766 YBX3 Y box binding protein 3 ENCODES a protein that exhibits poly(A) RNA binding; mRNA 3'-UTR binding (ortholog); Rho GTPase binding (ortholog); INVOLVED IN cellular hyperosmotic response; cellular response to tumor necrosis factor; negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress; ASSOCIATED WITH Optic Nerve Injuries (ortholog); FOUND IN cytoplasm; nucleus (ortholog); perinuclear region of cytoplasm (ortholog); INTERACTS WITH 4-hydroxynon-2-enal; aflatoxin B1; arsenite(3-) 12 12 12 p13.1 16000000 16024276 - 10851676 10876047 - 10699077 10723354 - 1580863;2311250;6480464 11750989 10343102;11799066;12239625;12477932;14728692;15302935;15313206;15489334;15592429;16094384;16159877;16196087;16198352;16344560;16508013;17081983;17620599;17643375;18029348;18781797;19240061;19322201;19328795;19369198;19710015;19734347;19749785;19805454;20020773;20133480;20431927;21139048;21145461;21182205;21282530;21473684;21642987;21890473;21906983;21963094;21987572;22053931;22159460;22505724;22711822;22863883;22939629;22990118;23000965;23084401;23151878;23398456;23443559;23463506;23602568;23752268;24244333;24457600;24816145;24885929;25015289;2977358;7628487;8710501;8871564;9442396 8531 H0YG22;P16989 AA621593;AB209896;ABBA01067806;AC021049;AK314846;AMYH02026029;AU117252;BC008801;BC009744;BC015564;BC015913;BC021926;BC150580;CH471094;L29064;M24069;NM_001145426;NM_003651;X72712;X95325 AAA35749;AAA79243;AAH08801;AAH09744;AAH15564;AAH15913;AAH21926;ABM83612;ABM86856;BAD93133;BAG37363;CAA51261;CAA64631;EAW96201;EAW96202;EAW96203;EAW96204;EAW96205;NP_001138898;NP_003642;P16989 Hs.221889 1681472;1685892;1725805;1726079;1736542;1853284;2151003;2173601 D16S2544E;G07129;G61989;G62320;IB391;RH69102;RH92531;WI-20104 CSDA;CSDA1;DBPA DNA-binding protein A;OTTHUMP00000238732;OTTHUMP00000238733;Y-box-binding protein 3;ZO-1-associated nucleic acid-binding protein;ZONAB;cold shock domain protein A;cold shock domain-containing protein A;cold-shock domain containing A1;cold-shock domain protein A;single-strand DNA-binding protein NF-GMB APPROVED protein-coding ENSG00000060138 HGNC:2428 10347 603437 VALIDATED 1346157 YES1P1 YES1 pseudogene 1 22 22 22 q12.1 9847285 9852179 + 26043108 26048002 + 25647141 25652035 + 3137198 7526 ABBA01055181;AL022329;AMYH02038159;D00333;NG_001213 D22S670;SYR;YES2;YESP APPROVED pseudo HGNC:12842 INFERRED 1353043 YEATS4 YEATS domain containing 4 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] 12 12 12 q13-q15 69417212 69448257 + 69753490 69784576 + 69359710 69390796 + 1580863;6480464;9495926 21502417 10913114;11521196;11756182;11901157;11903063;12477932;12620397;12963728;14702039;14966270;15196461;15489334;15647280;16387653;16698963;16705155;17643375;18214854;18391951;18591461;19454010;20618999;21139048;21317290;21890473;21906983;22068108;22350108;22467210;22619067;22939629;23503679;23509962;24163370;24170126;24250222;24816145;8733125;9302258 8089 F8VTR4;F8W0J4;F8W1B9;O95619 ABBA01026542;AC117502;AJ245746;AK001413;AMYH02026710;BC000994;CA775118;CH471054;CK820576;DN915967;NM_001300950;NM_006530;U61384;XM_005269163 AAD12188;AAH00994;ABZ92455;BAA91678;CAC01935;EAW97223;EAW97224;NP_001287879;NP_006521;O95619;XP_005269220 Hs.4029 1730359;2108647;7185457 D12S107E;YEATS4_8778 4930573H17Rik;B230215M10Rik;GAS41;NUBI-1;YAF9;nuBI1 NuMA binding protein 1;OTTHUMP00000240879;OTTHUMP00000240880;OTTHUMP00000240882;YEATS domain-containing protein 4;glioma-amplified sequence 41;glioma-amplified sequence-41;nuMA-binding protein 1 APPROVED protein-coding ENSG00000127337 HGNC:24859 03666 602116 REVIEWED 1604600 YIPF2 Yip1 domain family, member 2 FOUND IN transport vesicle; INTERACTS WITH tert-butyl hydroperoxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p13.2 10928285 10934198 - 11033444 11039357 - 10922768 10928681 - 6480464 11076863;11256614;12477932;15489334;15489336;16189514;16381901;19322201;24250222 78992 K7EIP7;K7EJN9;K7EL70;K7EM92;K7ENM8;K7ENZ5;K7EQH3;K7ERW0;Q9BWQ6 ABBA01029885;AC011442;AMYH02035513;BC000056;BC013014;CH471106;NM_024029;XM_005260069;XM_005260070;XM_005260071 AAH00056;AAH13014;CAL37510;EAW84157;EAW84158;EAW84159;NP_076934;Q9BWQ6;XP_005260126;XP_005260127;XP_005260128 Hs.720136 1657748;1684954;1713683;2162847 G09492;RH120724;RH80445;STS-AA004344 FinGER2;MGC3262 YIP1 family member 2 protein-coding ENSG00000130733 HGNC:28476 11332 PROVISIONAL 1604013 YIPF1 Yip1 domain family, member 1 ASSOCIATED WITH Melanoma (inferred); FOUND IN transport vesicle; INTERACTS WITH 2-methylcholine; disodium selenite; 17alpha-ethynylestradiol (ortholog) 1 1 1 p33-p32.1 52605075 52643123 - 54317392 54355487 - 53851719 53889818 - 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15146197;15466293;15489334;15489336;16381901;21890473;21906983;22719876;23000965 54432 B7Z6F5;C9JFB2;Q9Y548 ABBA01074729;ABBA01074730;AK000823;AK300240;AK315183;AL031427;AL391003;AL596480;AL713668;AMYH02001043;BC009674;BC064590;BI757212;CH471059;CN308348;NM_018982;NR_036639;NR_036640;XR_426612;XR_426613 AAH09674;AAH64590;BAA91389;BAG37624;BAH13241;CAD28474;CAL37672;EAX06727;EAX06728;EAX06729;EAX06730;NP_061855;Q9Y548 Hs.11923 1339526;1690510;1773463;1853600;2170637 AL009506;D1S2661;RH35802;RH80519;SHGC-64267 DJ167A19.1;FinGER1 OTTHUMP00000009748;OTTHUMP00000010047;YIP1 family member 1 protein-coding ENSG00000058799 HGNC:25231 13147 VALIDATED 732225 YIF1A Yip1 interacting factor homolog A (S. cerevisiae) INVOLVED IN activation of signaling protein activity involved in unfolded protein response (inferred); cellular protein metabolic process (inferred); endoplasmic reticulum unfolded protein response (inferred); FOUND IN endoplasmic reticulum-Golgi intermediate compartment; Golgi apparatus; intracellular membrane-bounded organelle; INTERACTS WITH 5-fluorouracil; atrazine; cobalt dichloride 11 11 11 q13 63371864 63376451 - 66052051 66056638 - 66284580 66289167 - 634527;1580863;6480464 10970842 11099500;11943201;12477932;15308636;15489334;15990086;16344560;18029348;18718466;21103663;21139048;21900206;21906983;21926972;21963094;21987572;22645275;24250222;8125298;8824393 10897 A6NGW1;A8K509;C9JST7;E9PIZ0;E9PK42;E9PP02;E9PS11;O95070 ABBA01024086;AF004876;AK226003;AK291124;AK308988;AK310521;AMYH02024975;AP001107;BC001299;BC009892;BG397210;CH471076;CQ834898;CR456710;DB085949;NM_001300861;NM_020470;S83365;XM_005273720;XM_005273721 AAB50850;AAD01206;AAH01299;AAH09892;BAF83813;CAG32991;CAH05664;EAW74509;NP_001287790;NP_065203;O95070;XP_005273777;XP_005273778 Hs.446445 1645405;2140230;2154036;2191589 MARC_26754-26755:1034172688:10;SGC34590;SHGC-64947;STS-R15443 54TM;54TMp;FinGER7;YIF1;YIF1P OTTHUMP00000128268;OTTHUMP00000128270;OTTHUMP00000128271;OTTHUMP00000128272;YIP1-interacting factor homolog A;Yip1p-interacting factor;putative Rab5-interacting protein;putative transmembrane protein 54TMp protein-coding ENSG00000174851 HGNC:16688 06755 611484 VALIDATED 1317816 YIPF3 Yip1 domain family, member 3 INVOLVED IN cell differentiation (inferred); FOUND IN Golgi apparatus; intracellular membrane-bounded organelle; transport vesicle; INTERACTS WITH elemental selenium; methyl methanesulfonate; selenium atom 6 6 6 p21.1 45031186 45036349 - 43479565 43484728 - 43511827 43516990 - 6480464 11076863;11230166;11256614;12477932;12490290;14574404;14702039;15489334;15489336;16189514;16341674;16381901;18029348;21757827;21890473;21903422;21906983;21963094;21987572;22505724;24250222 25844 D6RA04;D6RAY4;D6RBQ1;D6RFI3;D6RGY8;E7EQR8;H0Y9A1;Q5JTD5;Q9GZM5 ABBA01050679;ABBA01050680;AF162672;AK000946;AK021433;AK021655;AK022757;AK298150;AK308961;AL050274;AL355802;AMYH02013648;BC019297;BE562740;BM836904;CA308984;CH471081;CR533541;DC387416;NM_015388;XM_005248989;XM_005248990 AAH19297;AAM21161;BAA91439;BAB13824;BAB13866;BAB14231;BAG60426;CAB43375;CAG38572;CAL38524;CAL38604;EAX04203;NP_056203;Q9GZM5;XP_005249046;XP_005249047 Hs.440950 2154952;2159452;2186339 D6S2069;RH46607;STS-D29507 C6orf109;DKFZp566C243;FinGER3;KLIP1;RP3-337H4.3;dJ337H4.3 OTTHUMP00000016461;OTTHUMP00000016462;OTTHUMP00000016463;OTTHUMP00000217265;OTTHUMP00000217266;OTTHUMP00000217267;OTTHUMP00000217268;OTTHUMP00000217272;killer lineage protein 1;natural killer cell-specific antigen KLIP1 protein-coding ENSG00000137207 HGNC:21023 09852 609775 VALIDATED 1321347 YES1 YES proto-oncogene 1, Src family tyrosine kinase This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008] 18 18 18 p11.31-p11.21 595885 635919 - 721592 812327 - 721588 812326 - 1580863;6480464;6484113 10339567;10562288;10829062;10858437;11039464;11071635;11127814;11278422;11312300;11546805;11684709;11901164;11950934;12080032;12138090;12456296;12477932;12509223;12538589;12558988;12640114;12668668;12846735;1384720;14980517;15039424;15148312;15190072;15231748;1544885;15489334;15557335;15588985;15592455;15657067;15951569;16094384;16289864;16344560;16374509;16400523;16434389;16439366;16537602;16880514;16964398;17007035;17081983;17109515;17143518;1715582;17192257;1720539;17254967;17418139;17620599;17692281;17898870;18029348;18067320;18155796;18328427;19199708;19240061;19258394;19267251;19322201;19738201;19757166;19797678;19807924;19893451;19953087;20056178;20098684;20360068;20605918;2067846;20796316;21139048;21190720;21309750;21390316;21454696;21890473;21963094;22430206;22623531;2267131;22745667;22936677;22939624;22939629;22948717;23000965;23318429;23398456;23497302;23541324;23898208;24324551;2436037;24610809;24797263;2983418;3332005;7521304;7537495;7641887;7681396;7685273;7929439;8449516;8702385;8889548;8918464;9632142;9794236;9892651 7525 J3QRU1;P07947 ABBA01049818;AK314063;AMYH02034191;AMYH02034192;AMYH02034193;AMYH02034194;AP000894;AP001020;AP001178;AU123956;BC031080;BC048960;BM969640;BU753688;CH471113;H80401;KF510457;M15990;NM_005433;XM_005258139 AAA35735;AAH48960;BAG36767;EAX01709;EAX01710;NP_005424;P07947;XP_005258196 Hs.194148 1664182;1680242;1742387;1852221;2128835;2135884;2153602;2168077;5021024;5022200;5022578;5022651;5037552 D11S2921;D18S1274;D1S1423;D22S1032;D8S2279;GDB:196598;L18426;RH65978;RH68784;RH69080;RH69573;STS-M15990;STS-R69158 HsT441;P61-YES;Yes;c-yes OTTHUMP00000162194;YES1 proto-oncogene, Src family tyrosine kinase;Yamaguchi sarcoma oncogene;cellular yes-1 protein;proto-oncogene c-Yes;proto-oncogene tyrosine-protein kinase Yes;tyrosine-protein kinase Yes;v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 APPROVED protein-coding ENSG00000176105 HGNC:12841 01285 164880 REVIEWED 1604267 YIPF4 Yip1 domain family, member 4 FOUND IN endoplasmic reticulum; Golgi apparatus; intracellular membrane-bounded organelle; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; hydrogen peroxide 2 2 2 p22.3 32347749 32376450 + 32502958 32533074 + 32277889 32308005 + 6480464 11076863;11256614;12477932;12880961;14702039;15342556;15489334;15489336;16189514;16381901;20360068;21139048;21757827;21890473;21906983;21963094;21987572;23000965;8889548 84272 H7C0D5;H7C3X2;Q9BSR8 AB072898;ABBA01074882;AK098486;AL121653;AMYH02003547;BC004875;BP207600;BU608699;CH471053;NM_032312;XM_005264599 AAH04875;BAC05315;BAE45710;CAL38397;EAX00448;EAX00449;EAX00450;NP_115688;Q9BSR8;XP_005264656 Hs.468099 1734242;1769901;1855189;2144000;2179553;5123893 D2S1497E;RH11547;RH46370;SHGC-56665;SHGC-56786;WI-11827 FinGER4;MGC11061;Nbla11189 OTTHUMP00000158568;YIP1 family member 4;putative protein product of Nbla11189 protein-coding HGNC:28145 14410 VALIDATED 1605821 YIPF6 Yip1 domain family, member 6 ENCODES a protein that exhibits identical protein binding (inferred); INVOLVED IN intestinal epithelial cell development (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH copper atom; copper(0); hydrogen peroxide X X X q12 68070045 68103397 + 67718624 67757127 + 68498782 68537285 + 6480464 11076863;11256614;12477932;14702039;15146197;15489334;15489336;15772651;16189514;16381901;18029348;19322201;23142642 286451 B1AV70;Q96EC8 ABBA01067362;ABBA01067363;ABBA01067364;AK024673;AK026979;AK095555;AK292835;AK303992;AL117461;AL672138;AL928603;AMYH02039645;BC012469;CH471132;CN311465;NM_001195214;NM_173834;XR_430520 AAH12469;BAF85524;BAG64909;CAL38630;EAX05376;EAX05377;NP_001182143;NP_776195;Q96EC8 Hs.82719 1733406;2141784;2141941;2158964;2158966;2184562;2187034;5015619;5015861;5016478;5016700;5020274;5022450;5037552;5118576;7185938 A002S27;A006J32;A009F06;D10S16;D10S275;D11S3114;D11S3430;D8S2279;DXS6705;G20877;GDB:434012;L18441;RH79802;SHGC-17240;WI-20895 FinGER6;MGC21416;RP13-253K9.1 OTTHUMP00000023452;OTTHUMP00000023453;YIP1 family member 6 protein-coding ENSG00000181704 HGNC:28304 06639 VALIDATED 1604708 YIPF7 Yip1 domain family, member 7 ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); Aroclor 1254 (ortholog); benzo[a]pyrene (ortholog) 4 4 4 p12 45072378 45101680 - 44624354 44653658 - 44622006 44651641 - 6480464;8554872 12477932;14702039;16344560;9847074 285525 J3KR00;Q8N8F6;V9GZ30 ABBA01014311;AC093852;AC096586;AC108478;AK096895;AMYH02009136;AMYH02009137;BC103995;BC103996;CH471069;DB299886;NM_182592;XM_006714004 AAI03996;AAI03997;BAC04887;EAW93015;EAW93016;NP_872398;Q8N8F6;XP_006714067 Hs.596000 1853212;1854359 SHGC-10616;SHGC-50721 FLJ39576;FinGER9;MGC120164 OTTHUMP00000219755;YIP1 family member 7;five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 9 protein-coding ENSG00000177752 HGNC:26825 08259 VALIDATED 1602093 YIPF5 Yip1 domain family, member 5 INVOLVED IN protein transport (inferred); regulation of ER to Golgi vesicle-mediated transport (inferred); vesicle-mediated transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum exit site (inferred); ER to Golgi transport vesicle (inferred); Golgi apparatus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 5 5 5 q31.3 139619111 139631663 - 143537723 143550278 - 144158159 144170714 - 6480464;8554872 11489904;12477932;12975309;14702039;15342556;15489334;15498874;15592455;15611160;15922870;15990086;17207965;18718466;19509059;19845895;20237155;21139048;21903422;23342155;24250222;8125298 81555 E5RGR9;E5RHH4;Q969M3 AA811265;AB014733;ABBA01026359;AC008383;AF140225;AF318329;AK054576;AK124065;AK223515;AK307251;AMYH02012388;AY037152;AY358863;AY640925;AY640926;AY640927;AY640928;AY640929;AY640934;BC007829;BC014253;BC024737;BP310538;BX647859;CH471062;CR749463;NM_001024947;NM_001271732;NM_030799 AAG48521;AAH07829;AAH14253;AAH24737;AAK67644;AAL55836;AAQ89222;AAV51256;AAV51257;AAV51258;AAV51259;AAV51260;ADQ31662;BAB20270;BAB70763;BAD97235;BAG53996;CAH18295;EAW61863;EAW61864;EAW61865;NP_001020118;NP_001258661;NP_110426;Q969M3 Hs.372050 1657240;1661502;1670200;2187413;5022200 L18426;RH45973;STS-AA040621;STS-N40203;STS-N54466 DKFZp313L2216;FinGER5;SB140;SMAP-5;SMAP5;YIP1A OTTHUMP00000160087;OTTHUMP00000223243;OTTHUMP00000223244;OTTHUMP00000225743;YIP1 family member 5;YPT-interacting protein 1 A;five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 5;golgi membrane protein SB140;smooth muscle cell associated protein 5;smooth muscle cell-associated protein 5 protein-coding ENSG00000145817 HGNC:24877 18071 611483 VALIDATED 1605797 YJEFN3 YjeF N-terminal domain containing 3 INTERACTS WITH ketamine (ortholog); pirinixic acid (ortholog) 19 19 19 p13.11 19543732 19552455 + 19639670 19648393 + 19528861 19537584 + 6480464 12477932;14702039;15057824;15489334;17533573;23974872 374887 A6XGL0;E7ENQ6;Q6ZT45 ABBA01051335;AC011448;AK094976;AK126916;AMYH02035759;BC020948;BC093948;BC112285;BI520231;BX097402;CH471106;DB551327;DQ778079;DQ778080;NM_001190328;NM_198537;XM_005259903;XM_006722748 A6XGL0;AAH93948;AAI12286;AAI48457;ABI63344;ABI63349;BAC86749;EAW84827;EAW84828;EAW84829;NP_001177257;NP_940939;XP_005259960;XP_006722811 Hs.729508 1794590;5493147 PMC321570P5;UniSTS:484449 FLJ44968;MGC138490 OTTHUMP00000221708;OTTHUMP00000221709;apolipoprotein A1 binding protein;hYjeF_N3;hYjeF_N3-19p13.11;yjeF N-terminal domain-containing protein 3;yjeF_N3 protein-coding ENSG00000250067 HGNC:24785 13498 VALIDATED 1604767 YIF1B Yip1 interacting factor homolog B (S. cerevisiae) FOUND IN integral component of membrane (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; cyclosporin A 19 19 19 q13.2 35596436 35608842 - 38794200 38806615 - 38303560 38315972 - 6480464 11181995;12477932;12975309;17207965;18685031;18781797;21139048;21906983;21963094;22939629;8889548 90522 K7EJQ6;K7EPQ7;K7ERQ0;K7ERY2;Q5BJH7;Q9H5F7 ABBA01040678;AC011479;AF258578;AK027130;AK304479;AL833382;AMYH02036066;AMYH02036067;AMYH02036068;AW630507;AY358965;BC007644;BC014974;BC025257;BC091477;BE877226;BG765536;BM703847;BX379501;C02248;CA487891;CA488303;CF127536;CH471126;NM_001039671;NM_001039672;NM_001039673;NM_001145461;NM_001145462;NM_001145463;NM_033557;XM_005259384;XM_005259385 AAG23781;AAH07644;AAH14974;AAH25257;AAH91477;AAQ89324;ADQ31664;BAB15669;BAH14197;CAI46138;EAW56771;EAW56772;EAW56773;EAW56774;NP_001034760;NP_001034761;NP_001034762;NP_001138933;NP_001138934;NP_001138935;NP_291035;Q5BJH7;XP_005259441;XP_005259442 Hs.280741 1685772;1728323;5037552 D8S2279;G63443;RH94089 FLJ23477;FLJ50074;FinGER8;MGC39135 YIP1-interacting factor homolog B protein-coding ENSG00000167645 HGNC:30511 11277 VALIDATED 1349839 YME1L1P1 YME1L1 pseudogene 1 22 22 q11.1 16485396 16487979 - 15489984 15492567 + 10591208 23749 AMYH02037970;AP000535;NG_002636 YME1L2 APPROVED pseudo HGNC:12844 INFERRED 1604806 YOD1 YOD1 deubiquitinase Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. The protein encoded by this gene belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 1 1 1 q32.2 180468698 180475926 - 207217194 207226325 - 207043849 207052980 - 6480464;6907045 12477932;14702039;16710414;19322201;19615732;19818707;20435896;21139048;21906983;22053931;22118674;22505724;22626734;23827681;24068323;24417208;7644498 55432 Q5VVQ6 ABBA01048247;AC247050;AK128014;AL445493;AL833081;BC137166;BC137167;CH471100;NM_001276320;NM_018566;XR_247031 AAI37167;AAI37168;BAC87233;CAD89975;EAW93509;NP_001263249;NP_061036;Q5VVQ6 Hs.567533;Hs.745490 1850470;2138185 AL009762;D8S2025 DKFZp451J1719;DUBA-8;DUBA8;HIN-7;OTUD2;PRO0907;RP11-164O23.1;hsHIN7 HIV-1-induced protease 7;OTTHUMP00000034284;OTU domain containing 2;OTU domain-containing protein 2;YOD1 OTU deubiquinating enzyme 1 homolog ( yeast);ubiquitin thioesterase OTU1 APPROVED protein-coding ENSG00000180667 HGNC:25035 10312 612023 VALIDATED 1351763 YPEL1 yippee-like 1 (Drosophila) This gene encodes a potential zinc-binding protein and is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein may play a role in the regulation of cellular morphology and may function during craniofacial development. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 5869356 5907602 - 22051825 22090071 - 21697536 21757876 - 1580863;6480464 11473580;12477932;14702039;15461802;15489334;15556292;20379614;20508983;7757816 29799 B5MCX2;O60688 AB098734;AB098735;ABBA01055061;ABBA01055062;ABBA01055063;ABBA01055064;ABBA01055065;AF060862;AF305069;AI004498;AK096530;AMYH02038121;AP000553;AW006162;AW161786;BC015229;BC034486;BC048303;BC074501;BI461654;BI559478;BI836931;BQ422551;CH471095;CR456376;CR933630;NM_013313;XM_006724237;XM_006724238;Z41424 AAC15461;AAH34486;AAH74501;AAL09353;BAD51375;BAD51376;CAG30262;CAI45937;CAK54512;CAK54811;EAW59478;NP_037445;O60688;XP_006724300;XP_006724301 Hs.517436 1651470;1654695;1676154;1722001;2110045;2125646;2126813;2128404;2140969;2155843;2163238;5022450 A002V26;A006V27;D10S275;D22S1003E;D22S1014E;G31074;G59886;RH48265;RH77810;SHGC-34311;WI-13436;YPEL1_9589 FKSG3;MGC64992 DiGeorge syndrome-related protein;OTTHUMP00000198576;protein yippee-like 1 APPROVED protein-coding ENSG00000100027 HGNC:12845 16277 608082 REVIEWED 733459 YME1L1 YME1-like 1 ATPase The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p14 27115834 27159778 - 27399040 27443349 - 27110111 27154420 - 1580863;727774;6480464;8554872 10843804 10930580;11042152;12214059;12477932;12975309;14702039;15164054;15489334;16344560;16385451;19946888;20186120;20877624;20972266;21139048;21890473;21906983;21963094;21988832;22262461;22939629;23000965;23455922;23602568;24816145 10730 Q5T8D1;Q5T8D2;Q6PJ89;Q96TA2;R4GNA5 ABBA01034402;ABBA01034403;AF018171;AF070656;AF151782;AI042625;AJ132637;AJ295618;AK001259;AK022930;AK291292;AK297973;AK309708;AK314372;AL160291;AL162272;AMYH02022508;AY358484;BC007795;BC019602;BC023507;BC024032;CH471072;DA395557;DA489399;HB871143;HB885661;HC928552;HC943070;NM_001253866;NM_014263;NM_139312 AAB70570;AAD20962;AAH07795;AAH19602;AAH23507;AAH24032;AAK57555;AAQ88848;BAF83981;BAG60283;CAB51858;CAB99462;CBF59687;CBF67033;CBU84931;CBU91906;EAW86068;EAW86069;EAW86070;EAW86071;EAW86072;NP_001240795;NP_055078;NP_647473;Q96TA2 Hs.499145;Hs.74647 1647941;1681221;1686881;1751399;1775366;2042242;2138320;2164037;2164039;5023453 A005X27;G20575;REN92160;RH25555;RH66293;RH93714;SHGC-105218;SHGC-32086;STS-N30424;T03326 FTSH;MEG4;PAMP;YME1L;meg-4 ATP-dependent metalloprotease FtsH1 homolog;ATP-dependent metalloprotease YME1L1;ATP-dependent zinc metalloprotease YME1L1;OTTHUMP00000019360;OTTHUMP00000019361;YME1-like protein 1;presenilin-associated metalloprotease APPROVED protein-coding ENSG00000136758 HGNC:12843 06981 607472 REVIEWED 1351286 YLPM1 YLP motif containing 1 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); regulation of telomere maintenance (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; cobalt dichloride 14 14 14 q24.3 55268437 55342377 + 75230025 75304013 + 74763322 74837310 + 1302519;1580863;6480464;8554872 7596406 12477932;12508121;14702039;15231748;15302935;15489334;15511642;16055720;16169070;16344560;17081983;17148452;17890166;19041431;19615732;20360068;20562859;21078624;21139048;21145461;21382349;21890473;21988832;22108332;22321011;22323290;22558309;22586326;22939629;23000965;23080069;23752268;24457600;24550385;24639526;24778252;24816145 56252 F8VU51;H0YI23;H0YIQ2;P49750;Q8NF45;U3KQT9 ABBA01030712;ABBA01030713;AC006530;AC007956;AK090435;AK095760;AK297582;AL832365;AMYH02029525;BC007792;BC023570;BC044636;BX102033;DB096717;L40396;L40400;L40403;NM_019589;XM_005267860;XR_245704 AAC42006;AAC42008;AAF61275;AAH07792;AAH23570;AAH44636;AAI72585;BAC03416;BAG59971;NP_062535;P49750;XP_005267917 Hs.531111 1658005;1663764;1740673;1852269;2117771;2121744;2138350;2155995;2165429;2168115;5093230 A004I09;A007A13;A009J47;D14S1173;D14S907;G32597;G35846;G36074;G36160;RH78917;WI-14687 C14orf170;PPP1R169;ZAP;ZAP113;ZAP3 OTTHUMP00000241344;OTTHUMP00000241345;OTTHUMP00000241346;YLP motif-containing protein 1;nuclear protein ZAP;nuclear protein ZAP3 protein-coding ENSG00000119596 HGNC:17798 VALIDATED 1604154 YPEL2 yippee-like 2 (Drosophila) ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 17 17 17 q22 53871908 53941133 + 57409053 57479095 + 59331692 59401734 + 6480464;8554872 12477932;14702039;15489334;15556292;19107206;20056645;20508983;23602568 388403 Q96QA6 AA604677;AB098736;ABBA01041376;ABBA01041377;ABBA01041378;AC091059;AF305195;AI540782;AK096866;AK097253;AL831930;AMYH02033710;AMYH02033711;AMYH02033712;BC127924;BC132884;BC132886;CH471109;NM_001005404 AAI27925;AAI32885;AAI32887;AAL09354;ADR83473;BAD51377;EAW94407;EAW94408;EAW94409;EAW94410;NP_001005404;Q96QA6 Hs.463613 1672831;1691778;1691784;1760361;1794016;2145720;2149836;2176735 G42245;G42249;PMC310730P4;RH71425;SGC35938;SHGC-141991;SHGC-33700;STS-T95031 DKFZp761C2021;FKSG4 DiGeorge syndrome-related protein;protein yippee-like 2 protein-coding ENSG00000175155 HGNC:18326 15682 609723 VALIDATED 8656919 YPEL5P1 yippee-like 5 (Drosophila) pseudogene 1 1 1 1 q25.3 155259877 155260959 - 182151173 182152255 - 182182038 182183120 - 100130996 ABBA01027773;AL390856;AMYH02002266;CH471067;NG_023360 EAW91115 pseudo HGNC:50555 INFERRED 1345149 YPEL4 yippee-like 4 (Drosophila) FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; tunicamycin; benzo[a]pyrene (ortholog) 11 11 11 q12.1 54769044 54773901 - 57412560 57417417 - 57645087 57649944 - 1580863;6480464 12477932;14702039;15489334;15556292;20508983;20555386 219539 E9PNP5;E9PRC4;Q96NS1 AB098738;ABBA01021474;ABBA01021475;AK054775;AK054967;AK124577;AMYH02024844;AP000662;BC029228;BC064995;BC104781;BC111012;BC112119;CH471076;NM_145008 AAH29228;AAI04782;AAI11013;AAI12120;BAB70805;BAD51379;BAG51446;BAG54054;EAW73765;EAW73766;EAW73767;EAW73768;EAW73769;NP_659445;Q96NS1 Hs.135978 1646462 RH15915 FLJ30213;MGC102723;MGC138324 OTTHUMP00000235292;OTTHUMP00000235293;OTTHUMP00000235346;OTTHUMP00000235347;protein yippee-like 4 protein-coding ENSG00000166793 HGNC:18328 08081 609725 VALIDATED 1347620 YPEL3 yippee-like 3 (Drosophila) FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 16 16 16 p11.2 72688182 72692085 + 30103635 30108248 - 30092314 30096216 - 6480464 12477932;14702039;15489334;15556292;20388804;20508983;21196260;21267786;21671470;21832049;23602568 83719 H3BME7;H3BNP5;H3BRF0;H3BUE2;P61236 AB098737;ABBA01013105;AC012645;AC243947;AF305622;AK022409;AK026047;BC005009;BC050664;CH471238;NG_023283;NM_001145524;NM_031477 AAH05009;AAH50664;AAL09365;BAD51378;EAW79922;EAW79923;EAW79924;EAW79925;NP_001138996;NP_113665;P61236 Hs.513491 1680234;2155059;5111645 RH64991;RH81090;SHGC-57827 MGC10500 protein yippee-like 3 protein-coding ENSG00000090238 HGNC:18327 15683 609724 VALIDATED 8656846 YPEL5P3 yippee-like 5 (Drosophila) pseudogene 3 12 12 96453118 96454208 - 96059340 96060430 - 100653396 ABBA01053319;AC007298;AMYH02026994;NG_029645 pseudo HGNC:50557 INFERRED 8656538 YPEL5P2 yippee-like 5 (Drosophila) pseudogene 2 11 11 11 p11.2 48010862 48011861 + 47862782 47863239 + 47841230 47841687 + 100132562 ABBA01060691;AC021443;AMYH02024743;NG_028134 pseudo HGNC:50556 INFERRED 1320113 YPEL5 yippee-like 5 (Drosophila) ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 2 2 2 p23.1 30212614 30226263 + 30369750 30383399 + 30146884 30160533 + 6480464;8554872 10810093;11240639;12477932;15489334;15556292;15815621;19322201;20508983;20580816;21139048;21890473;21906983;23000965;23382248;23667531 51646 P62699 AB098739;ABBA01074834;ABBA01074835;AC016907;AF135161;AF151885;AF172940;AK025730;AK307099;AMYH02003515;BC000836;BC047237;CH471053;DB484378;NM_001127399;NM_001127400;NM_001127401;NM_016061 AAD34122;AAD47882;AAF43785;AAH00836;AAH47237;AAY14780;BAD51380;EAX00499;EAX00500;EAX00501;EAX00502;EAX00503;EAX00504;EAX00505;NP_001120871;NP_001120872;NP_001120873;NP_057145;P62699 Hs.515890 1648442;1670911;1768457;1777971;2110047 RH11964;RH45720;RH68446;SHGC-53251;YPEL5_9745 CGI-127 OTTHUMP00000123520;OTTHUMP00000123521;OTTHUMP00000123522;OTTHUMP00000201251;protein yippee-like 5;yippee protein protein-coding ENSG00000119801 HGNC:18329 18312 609726 VALIDATED 735770 YKT6 YKT6 v-SNARE homolog (S. cerevisiae) This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a membrane associated, isoprenylated protein that functions at the endoplasmic reticulum-Golgi transport step. This protein is highly conserved from yeast to human and can functionally complement the loss of the yeast homolog in the yeast secretory pathway. [provided by RefSeq, Jul 2008] 7 7 7 p15.1 44338544 44351859 + 44240577 44253893 + 44200968 44214294 + 6480464 11474112;11884350;11927603;12388752;12477932;12690205;14607937;14702039;15044687;15215310;15479160;15489334;15544955;16344560;16354670;16821082;17643375;18029348;21139048;21890473;21906983;22412018;22939629;23000965;23824909;24816145;8125298;9211930 10652 A4D2J0;H7C3K7;O15498 AB451317;AB451447;ABBA01058215;AC006454;AF091079;AK075018;AK097209;AK223488;AK299158;AK312622;AMYH02015616;AU130339;BC007319;BT007078;CH236960;CH471128;CR456989;CR542008;NM_006555;U95735;XM_005249582 AAB81131;AAC72948;AAH07319;AAP35741;ABM81579;ABM84759;BAD97208;BAG35508;BAG61206;BAG70131;BAG70261;CAG33270;CAG46805;EAL23763;EAW61111;EAW61112;EAW61113;NP_006546;O15498;XP_005249639 Hs.520794 1652891;1777078;2110805;2131432;2167939 D7S2060E;GDB:594252;RH12548;STS-AA037832;YKT6_9161 OTTHUMP00000159348;OTTHUMP00000209267;OTTHUMP00000209268;R-SNARE;SNARE protein Ykt6;YKT6 v-SNARE protein;YKT6, S. cerevisiae, homolog of;prenylated snare protein;synaptobrevin homolog YKT6 APPROVED protein-coding ENSG00000106636 HGNC:16959 16205 606209 REVIEWED 1606217 YRDC yrdC N(6)-threonylcarbamoyltransferase domain containing ENCODES a protein that exhibits double-stranded RNA binding (inferred); INVOLVED IN negative regulation of transport; FOUND IN membrane (inferred); mitochondrion (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2-methylcholine 1 1 1 p34.3 36546438 36551689 - 38268614 38273865 - 37802942 37808193 - 6480464 12477932;12730717;16024787;16196087;17643375;19279227;21906983;22939629;24816145;2675563 79693 Q86U90 ABBA01023263;AF250397;AK027129;AK129676;AL524812;AL929472;AMYH02000803;AY172561;AY286019;AY286020;BC008984;BC067857;BC068057;BC080186;CH471059;NM_024640 AAH08984;AAH67857;AAH68057;AAH80186;AAO41711;AAP37053;AAP37054;AAQ14263;BAB15668;EAX07317;EAX07318;NP_078916;Q86U90 Hs.301564 1672595;2142801;2142803;5037552 A005X20;D8S2279;G20571;G30948 DRIP3;FLJ23476;FLJ26165;IRIP;RP11-109P14.4;SUA5 OTTHUMP00000004511;dopamine receptor interacting protein 3;dopamine receptor-interacting protein 3;hIRIP;ischemia/reperfusion inducible protein;ischemia/reperfusion-inducible protein homolog;yrdC domain containing;yrdC domain-containing protein, mitochondrial APPROVED protein-coding ENSG00000196449 HGNC:28905 18313 612276 VALIDATED 5131389 YRDCP1 yrdC N(6)-threonylcarbamoyltransferase domain containing pseudogene 1 9 9 9 67636120 67636742 - 97194916 97195538 - 94432634 94433256 - 100420501 AL358232;AMYH02021257;NG_023852 APPROVED pseudo HGNC:39919 INFERRED 5685719 YRDCP3 yrdC N(6)-threonylcarbamoyltransferase domain containing pseudogene 3 21 21 42235944 42236396 + 40864018 40864470 + 10830953 100861429 ABBA01044672;AF043945;AMYH02037854;NG_031997 APPROVED pseudo HGNC:39921 INFERRED 1344237 YTHDF1P1 YTH domain family, member 1 pseudogene 1 5 5 5 q15 92589258 92591290 + 96704291 96706323 + 97368587 97370619 + 402220 ABBA01069220;AC106748;AMYH02011839;NG_004396 YTHDF1P APPROVED pseudo HGNC:31681 INFERRED 732940 YTHDC1 YTH domain containing 1 ENCODES a protein that exhibits poly(A) RNA binding; RNA binding; INVOLVED IN mRNA splice site selection; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; arsenous acid 4 4 4 q13.2 66635442 66675796 - 69176105 69215824 - 68310387 68350106 - 6480464;8554872 10564280;10973987;11118435;11853319;12368078;12477932;12755701;14702039;15175272;15302935;15345239;15489334;15815621;16009940;16196087;16344560;16565220;16964243;17081983;19282290;20686370;21139048;21628590;21988832;23084401;23251661;23602568;23865345;24250222;24457600;24654937;24816145;25027693;9473574 91746 J3KRG5;J3KRW0;J3KS01;J3QR07;Q96MU7 AB075846;ABBA01022909;ABBA01022910;AC074378;AC247056;AK056430;AK090836;AK098515;AL157447;AL832559;BC041119;BC053863;CH471057;DA191646;NM_001031732;NM_133370;XM_005265706;XM_005265707;XM_005265708;XM_005275637;XM_005275638;XM_005275639 AAH41119;AAH53863;AAY41024;BAB71181;BAB85552;EAX05570;EAX05571;NP_001026902;NP_588611;Q96MU7;XP_005265763;XP_005265764;XP_005265765;XP_005275694;XP_005275695;XP_005275696 Hs.175955 1675485;1682722;1689480;2160203;2164473;5022666 RH91333;RH91859;RH93535;SHGC-24716;SHGC-67387;YTHDC1 KIAA1966;YT521;YT521-B OTTHUMP00000159642;OTTHUMP00000159643;YTH domain-containing protein 1;putative splicing factor YT521;splicing factor YT521-B protein-coding ENSG00000083896 HGNC:30626 11689 VALIDATED 1318986 YTHDF1 YTH domain family, member 1 ENCODES a protein that exhibits N6-methyladenosine-containing RNA binding; poly(A) RNA binding; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 2,3,7,8-tetrachlorodibenzodioxine 20 20 20 q13.33 58504268 58525021 - 61826781 61847538 - 63195429 63216186 - 6480464 11780052;12477932;14702039;15489334;18654987;19322201;19615732;20467438;20811636;21139048;21145461;21903422;21906983;22939629;23443559;24250222;24332808;24457600;24483146;24778252;25015289 54915 Q5JXC6;Q9BYJ9 AB055518;ABBA01021391;ABBA01021392;AK000398;AK024546;AK095795;AL096828;AL834366;AMYH02037450;BC003681;BC016920;BC025264;BC050284;CH471077;CQ834648;NM_017798 AAH03681;AAH16920;AAH25264;AAH50284;BAA91138;BAB62751;BAG53130;CAD39029;CAH05539;EAW75305;EAW75306;NP_060268;Q9BYJ9 Hs.744852 1687510;1688072 RH80054;RH93642 C20orf21;DACA-1;FLJ20391 OTTHUMP00000031533;OTTHUMP00000031534;YTH domain family 1;YTH domain family protein 1;YTH domain-containing family protein 1;dermatomyositis associated with cancer putative autoantigen 1 protein-coding ENSG00000149658 HGNC:15867 11691 VALIDATED 1352303 YTHDF2P1 YTH domain family, member 2 pseudogene 1 14 14 14 q21.1 19548903 19550998 + 39684268 39686363 + 39215064 39217159 + 10508479 400209 ABBA01061551;AL132639;AMYH02029051;NG_004109 1739407;1797124;2173394;2173396 A001V19;D14S811E;G19682;HGRG8 HGRG8;NY-REN-2;YTHDF2P APPROVED pseudo HGNC:19865 INFERRED 1322711 YTHDF2 YTH domain family, member 2 This gene encodes a member of the YTH (YT521-B homology) superfamily containing YTH domain. The YTH domain is typical for the eukaryotes and is particularly abundant in plants. The YTH domain is usually located in the middle of the protein sequence and may function in binding to RNA. In addition to a YTH domain, this protein has a proline rich region which may be involved in signal transduction. An Alu-rich domain has been identified in one of the introns of this gene, which is thought to be associated with human longevity. In addition, reciprocal translocations between this gene and the Runx1 (AML1) gene on chromosome 21 has been observed in patients with acute myeloid leukemia. This gene was initially mapped to chromosome 14, which was later turned out to be a pseudogene. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Oct 2012] 1 1 1 p35 27459395 27492550 + 29063133 29096287 + 28736621 28769775 + 1580863;6480464;8554872 10508479;12368078;12477932;15342556;16344560;16799135;16858696;17643375;18729074;19322201;19738201;20020773;20811636;21139048;21145461;21182205;21832049;21890473;21906983;21963094;22268729;22505724;22863883;23000965;23275444;23602568;24284625;24332808;24457600;24816145 51441 Q9Y5A9;S4R3J8;S4R3V3 AA603037;AB451335;AB451484;ABBA01035060;ABBA01035061;AF155095;AF192968;AF432214;AK074276;AK292581;AK303833;AL356786;AL645729;AMYH02000635;BC002559;BF792382;BP320783;CH471059;CQ834214;CQ834216;DA697091;DC425394;NG_016746;NM_001172828;NM_001173128;NM_016258 AAD42861;AAF08813;AAH02559;AAL99921;ABM83083;ABM86278;BAF85270;BAG64779;BAG70149;BAG70298;CAH05322;CAH05323;EAX07673;EAX07674;EAX07675;NP_001166299;NP_001166599;NP_057342;Q9Y5A9 Hs.532286 1739407;1797124;2173394;2173396 A001V19;D14S811E;G19682;HGRG8 HGRG8;NY-REN-2 9430020E02Rik;CLL-associated antigen KW-14;OTTHUMP00000003782;YTH domain family protein 2;YTH domain-containing family protein 2;high-glucose-regulated protein 8;renal carcinoma antigen NY-REN-2;yth domain family 2 APPROVED protein-coding ENSG00000198492 HGNC:31675 06587 610640 REVIEWED 1349494 YWHAA tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide 7527 HGNC:12848 1313142 YTHDF3 YTH domain family, member 3 This gene encodes a member of the YTH (YT521-B homology) domain protein family. The YTH domain is common in eukaryotes, is often found in the middle of the protein sequence, and may function in binding to RNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 8 8 8 q12.3 60071751 60115983 + 64081112 64125346 + 63168553 63212788 + 737633;6480464;8554872 12477932 11076863;11230166;11256614;12368078;14702039;15146197;15342556;15489334;15489336;16009940;16381901;18669648;20068231;20463905;20811636;21139048;21269460;22190034;22194214;24163370;24332808;24457600 253943 B4DPX9;Q658Z6;Q7Z739;Q8N3V9;Q8NA80;Q96MZ5;R4GN55;S4R373 ABBA01041834;AC011978;AK002173;AK056219;AK093081;AK127574;AK298544;AL050081;AL831816;AL832005;AL832335;AL832369;AMYH02018073;AMYH02018074;AMYH02018075;AW673093;BC037492;BC052970;BP223018;BP354748;BX537996;CH471068;CN335163;DC419051;KF459652;NG_033226;NM_001277813;NM_001277814;NM_001277815;NM_001277816;NM_001277817;NM_001277818;NM_152758;NR_102434 AAH52970;BAB71122;BAC04046;BAG54526;BAG60741;CAD38530;CAH56223;CAH56224;CAH56480;CAL38359;CAL38736;EAW86864;EAW86865;EAW86866;EAW86867;NP_001264742;NP_001264743;NP_001264744;NP_001264745;NP_001264746;NP_001264747;NP_689971;Q7Z739 Hs.491861 1657672;1666145;1682169;1689967;1735756;1776738;1848878;1848880;2147964 A001Y04;D8S1366E;G19771;RH68329;RH80212;RH93113;SHGC-31794;STS-H02876;WI-19603 FLJ31657 YTH domain family protein 3;YTH domain-containing family protein 3 protein-coding ENSG00000185728 HGNC:26465 08106 REVIEWED 5131393 YRDCP2 yrdC N(6)-threonylcarbamoyltransferase domain containing pseudogene 2 9 9 9 q22.33 67636120 67636742 - 99717118 99717740 + 96954836 96955458 + 100128237 ABBA01043564;AL158827;AMYH02021303;NG_021668 APPROVED pseudo HGNC:39920 INFERRED 8552050 YWHABP1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta pseudogene 1 9 9 9 p13.1 38579313 38580044 + 38643036 38643767 + 38643039 38643770 + 647051 ABBA01050373;AL591543;AMYH02019512;NG_021647 pseudo HGNC:50294 INFERRED 8552213 YWHABP2 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta pseudogene 2 11 11 11 18647391 18648106 - 18511786 18512501 - 18490239 18490954 - 100422666 ABBA01061055;AC027544;AMYH02024397;NG_024320 pseudo HGNC:50295 INFERRED 1354151 YWHAD tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide 7530 HGNC:12850 7490436 YWHAEP1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 1 7 7 7 q11.21 57613831 57615654 + 63894071 63895898 + 64433693 64435520 + 16344560 649395 ABBA01027977;AC022202;AMYH02015849;DB053774;NR_029404 Hs.728871 pseudo HGNC:49442 INFERRED 7246116 YTHDF3-AS1 YTHDF3 antisense RNA 1 (head to head) 8 8 q 64080284 64081001 - 63167725 63168442 - 101410533 ABBA01041834;AC011978;AMYH02018073;BM681776;BM967225;BQ631682;NG_033226;NR_102684 Hs.163027 ncrna ENSG00000270673 HGNC:48728 VALIDATED 7494042 YWHAEP5 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 5 2 2 2 q22.1 132756513 132758263 - 139044700 139046450 - 138287130 138288880 - 20800603;22118674 440917 ABBA01028128;AC097523;AMYH02004873;NG_023209 pseudo HGNC:49439 INFERRED 1348696 YTHDC2 YTH domain containing 2 ENCODES a protein that exhibits poly(A) RNA binding; RNA polymerase binding; RNA-dependent ATPase activity; INVOLVED IN ATP catabolic process; positive regulation by host of viral genome replication; response to interleukin-1; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; copper(2+) sulfate 5 5 5 q22.2 108797205 108878222 + 112849391 112930984 + 113513694 113595287 + 737633;6480464;8554872 12477932 14702039;15302935;16341674;17081983;18187620;19615732;19875381;20020773;21139048;21145461;21282530;21326311;21559518;21890473;21903422;21906983;22586326;24269672;24816145;25015289;8125298 64848 D6R9T8;D6RA70;D6RF50;Q9H6S0 ABBA01069044;ABBA01069045;AC010389;AC093208;AK000915;AK025593;AK095368;AK096486;AK131450;AK225316;AK310855;AL049305;AMYH02011984;AMYH02011985;AW052121;BC019100;BC137285;BE295472;BM827416;CA943109;CB268902;CH471086;CR627037;NM_022828;XM_005272052;XR_246540 AAI37286;BAB15183;BAD18595;EAW48978;EAW48979;EAW48980;NP_073739;Q9H6S0;XP_005272109 Hs.231942 1341870;1671275;1724589;1852127;5019213;5094953 CDR1;D5S421;RH121291;RH66654;STS-H71891;YTHDC2 CAHL CsA-associated helicase-like protein;OTTHUMP00000159057;OTTHUMP00000222864;probable ATP-dependent RNA helicase YTHDC2 protein-coding ENSG00000047188 HGNC:24721 11690 VALIDATED 7494974 YWHAEP7 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 7 17 17 17 q12 33026569 33067360 - 36202573 36244363 - 37842949 37884743 - 12477932;14702039;24312300 284100 ABBA01001357;AC113211;AC243569;AC243571;AK094896;BC132826;BC144329;NR_024178 AAI44330;BAG52949 Hs.434159 pseudo ENSG00000276715 HGNC:49437 VALIDATED 1353658 YWHAQP1 YWHAQ pseudogene 1 14 14 14 q21.1 23136728 23137632 - 43276320 43277224 - 42807117 42808021 - 319121 ABBA01018020;AL356800;AMYH02029081;NG_002502 YWHAQP APPROVED pseudo HGNC:19937 INFERRED 1350802 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008] 17 17 17 p13.3 1261362 1317358 - 1247833 1303669 - 1344540 1400375 - 6480464;6484113;6907045 10088721;10330186;10358015;10407019;10441394;10449590;10559254;10644344;10681541;10713667;10788521;10869435;10887173;11076968;11114197;11118213;11172812;11208609;11278287;11486037;11504882;11531413;11533041;11697890;11782387;11784866;11864996;11912194;11953308;11985497;12042314;12154078;12176984;12221128;12433946;12438239;12477932;12507503;12621583;12657644;1266503;12665801;12757707;12787561;12796778;12852856;12917326;12919677;14505491;14517258;14559997;14676191;14679215;14702039;14966136;14970201;15023544;15057270;15142377;15166223;15229649;15265780;15364926;15369779;15459208;15489334;15494311;15635413;15696159;15708996;15722337;15791647;15838597;15883043;16027165;16041367;16043481;16045749;16093354;16159877;16189514;16196087;16227609;16246723;16306228;16341674;16376338;16407301;16462731;16482218;16511560;16511572;16581770;16679322;16775625;16868027;16888623;16923798;16968670;16968750;17043677;17081065;17278997;17314511;17369396;17430600;17620012;17620599;17643375;17720156;17728103;17979178;18029348;18160415;18356162;18573912;18658164;18779327;18781797;19056867;19172738;19173300;19338310;19558434;19584063;19608861;19615732;19635726;19738201;19766566;19946888;19996099;20000738;20012529;20224040;20388496;20417184;20452996;20458337;20462248;20478393;20508983;20562859;20565895;20603015;20618440;20639865;20642453;20936779;21044950;21081666;21139048;21145461;21145499;21184166;21189257;21242966;21282530;21319273;21346153;21401702;21492476;21533173;21693764;21706016;21890473;21900206;21906983;21935479;21963094;21987572;21988832;22053931;22118674;22151054;22178446;22190034;22222486;22223660;22246185;22268729;22456610;22505724;22580067;22588126;22607805;22623428;22863883;22887762;22899242;22934705;22939629;22944692;22948661;22982899;22984113;22984265;23000965;23035971;23140658;23151878;23246001;23266643;23271436;23275563;23383273;23398456;23402259;23428871;23438482;23443559;23444366;23455922;23472066;23483955;23599159;23752268;23813913;23824909;23862649;23938468;23982958;24129571;24161943;24244333;24255178;24269678;24450199;24536031;24816145;25015289;25036637;7615088;7644510;7790358;8684458;8702721;8858348;9111084;9144171;9312143;9369453;9371399;9427749;9452471;9524113 7531 B4DJF2;I3L0W5;I3L3T1;K7EIT4;K7EM20;P62258;V9HW98 AB017103;ABBA01054655;ABBA01054656;ABBA01054657;ABBA01054658;ABBA01054659;ABBA01054660;AC032044;AK128785;AK295260;AK295997;AK296050;AK296555;AK316185;AK316201;AMYH02032737;AMYH02032738;AMYH02032739;AMYH02032740;AY883089;BC000179;BC001440;BM755263;BT007161;CH471108;DC365395;EU794581;NG_009233;NM_006761;NR_024058;U20972;U28936;U43399;U43430;U54778;XM_005256784;XM_006725298 AAA75301;AAC50175;AAC50625;AAC50710;AAD00026;AAH00179;AAH01440;AAP35825;AAX68683;ABW03326;ACJ13635;BAA32538;BAG54733;BAG58249;BAG58772;BAG58814;BAG59178;BAH14556;BAH14572;EAW90627;EAW90628;EAW90629;NP_006752;P62258;XP_005256841;XP_006725361 Hs.513851 1647168;1675957;1679373;1736670;1737545;1854192;2186969;5016707 D17S1499E;D17S1582;G19934;RH104444;RH47135;RH66862;RH70591;STS-T60849 14-3-3E;FLJ45465;FLJ53559;HEL2;KCIP-1;MDCR;MDS 14-3-3 epsilon;14-3-3 protein epsilon;OTTHUMP00000166035;epididymis luminal protein 2;mitochondrial import stimulation factor L subunit;protein kinase C inhibitor protein-1;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide;tyrosine 3/tryptophan 5 -monooxygenase activation protein, epsilon polypeptide APPROVED protein-coding ENSG00000108953 HGNC:12851 05457 605066 REVIEWED 3378365 YWHAQP3 YWHAQ pseudogene 3 12 12 12 q13.3 56919376 56919982 + 57265582 57266188 + 56871798 56872404 + 100128944 ABBA01008444;AC121758;AMYH02026577;NG_028176 pseudo HGNC:37682 INFERRED 736065 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 70824607 70856862 - 75956108 75988342 - 76326791 76359025 - 6480464;6484113;6907045 10433554;10486217;10559254;10620507;10785390;10880354;11076968;11237865;11504882;11531413;11824616;11886850;11996670;12154078;12176984;12221128;12364343;12433946;12438239;12477932;12482592;12506198;12507503;12665801;12819209;12852856;12853948;14505491;14702039;14743216;15057270;15116094;15142377;15159416;15265780;15324659;15324660;15489334;15598710;15696159;15708996;15778465;15791647;15883043;16027165;16041367;16045749;16093354;16189514;16196087;16223726;16246723;16462731;16511560;16511572;16516142;16581770;16888623;17109079;17284169;17353931;17394238;17500595;17611984;17620599;17720156;17979178;18054924;18160415;18274552;18426801;18779327;18781797;18843201;18951085;19034380;19056867;19172738;19173300;19322201;19380743;19558434;19738201;19772960;19801645;19946888;20012529;20146355;20381070;20388496;20478393;20508983;20618440;20639859;20639865;20642453;20870266;20936779;21044950;21081666;21109226;21118956;21139048;21145461;21145499;21148311;21152872;21319273;21416292;21420405;21654844;21706016;21867493;21890473;21903422;21906983;21963094;21987572;21988832;22053931;22178446;22190034;22222486;22268729;22304920;22366688;22505724;22556425;22623428;22658894;22856523;22863883;22952844;23000965;23115241;23151878;23166591;23189152;23383273;23428871;23438482;23444366;23500129;23695676;23752268;23824909;23851690;23938468;24055376;24101513;24190973;24255178;24269678;24284060;24654937;24816145;25027693;25036637;7790358;7829101;7939645;8037685;8702721;8930394;9524113 7532 B4DHC4;P61981 AB024334;ABBA01005914;ABBA01005915;AC005522;AC006388;AF142498;AK024230;AK293505;AK295029;AMYH02016084;AMYH02016085;BC020963;BI495132;CH471220;CR541904;CR541925;DC343104;NM_012479 AAD48408;AAH20963;BAA85184;BAG51276;BAG56989;BAG58085;CAG46702;CAG46723;EAW71804;NP_036611;P61981 Hs.744840 1667139;1735642;1854053;2111376;2118834;2156298;2165079;2174590 1138;A002D37;D7S1878E;D7S2057E;D7S551E;G19981;GDB:1317208;RH12457 KCIP-1;PPP1R170 14-3-3 gamma;14-3-3 protein gamma;14-3-3GAMMA;OTTHUMP00000161136;protein kinase C inhibitor protein 1;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide APPROVED protein-coding ENSG00000170027 HGNC:12852 05639 605356 REVIEWED 1348668 YWHAQP2 YWHAQ pseudogene 2 22 22 22 q13.2 27952051 27953085 + 44040722 44041756 + 43644842 43645876 + 11080204 246716 ABBA01014578;AMYH02038478;NG_001580;NG_030019;Z82201 pseudo HGNC:23211 INFERRED 2902539 YWHAQP4 YWHAQ pseudogene 4 4 4 4 q32.3 162186284 162186995 + 164853684 164854395 + 163932532 163933243 + 19906423;9847074 646954 ABBA01070277;AC112247;AMYH02010421;NG_028173 2132872;2146357 1026;D4S2332 pseudo HGNC:37683 INFERRED 4109591 YWHAQP6 YWHAQ pseudogene 6 3 3 3 q23 139742896 139743307 + 141318086 141319535 - 141599244 141600693 - 101290504 ABBA01059044;AC092977;AMYH02007805;NG_033174 pseudo ENSG00000249986 HGNC:37685 INFERRED 5131593 YWHAQP7 YWHAQ pseudogene 7 12 12 77013160 77013825 + 76619380 76620045 + 100422674 ABBA01053543;AC107032;AMYH02026786;NG_028769 pseudo HGNC:37686 INFERRED 734393 YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008] 2 2 2 p25.1 9635980 9682954 - 9724096 9771184 - 9583967 9631055 - 1580863;6480464;6484113;6907045 10066823;10092600;10441394;10611249;10620507;10664457;10713667;10757792;10785390;10831594;10835362;10862767;10954706;11024037;11076863;11080204;11266503;11433030;11470791;11697890;11864996;11984006;12042314;12176984;12177059;12426317;12433946;12438239;12477932;12501243;12513910;12535517;12665801;12816952;12853467;12911633;12919677;12941695;14505491;14597563;14675149;14743216;14970201;15014438;15023544;15094368;15159416;15161933;15163635;15196694;15231748;15265780;15280438;15324660;15367659;15454081;15489334;15489336;15494392;15618521;15629715;15650334;15694340;15696159;15708996;15791647;15883043;15902271;15930726;15964851;16041367;16045749;16093354;16123141;16176975;16196087;16215457;16367866;16368544;16381901;16511560;16516142;16581770;16679322;16713569;16775625;16868027;16888623;16943424;16956611;16980613;17043677;17110929;17190946;17215244;17314511;17331040;17353931;17369396;17369524;17389591;17389761;17457084;17470459;17617058;17620012;17620599;17913709;17973628;17979178;18029348;18059471;18089831;18215133;18249187;18292392;18332145;18356162;18439900;18445273;18550856;18569453;18626620;18779327;18781797;18794547;18950845;18952052;19010391;19011111;19056867;19139046;19172738;19173300;19380743;19416966;19429675;19458171;19471022;19553522;19558434;19592491;19738201;19786833;19801645;19933840;19935702;19946888;19996285;20012529;20069457;20086099;20110348;2015305;20308060;20388496;20451386;20454448;20478393;20618440;20642453;20679480;20716686;20936779;21046037;21081666;21118956;21139048;21145461;21145499;21152872;21209461;21319273;21332526;21395556;21555462;21624135;21655264;21706016;21726808;21728994;21827211;21876254;21890473;21900244;21903422;21906983;21946067;21963094;21987572;21988832;22010828;22027839;22053931;22115752;22174390;22178446;22222486;22268729;22405925;22462548;22466704;22505724;22575644;22580824;22588126;22612223;22649097;22677168;22797923;22863277;22863883;22952583;22952844;22967481;22978167;23000965;23012332;23125841;23159940;23333852;23383273;23386617;23393134;23438482;23443559;23444366;23752268;23774214;23824909;23862649;23938468;24038028;24255178;24269678;24583282;24681339;24816145;25015289;25027693;25036637;7479742;7603573;8515476;8619474;8663231;8668348;8816492;8929531;9058808;9092538;9110174;9197417;9360956;9369453;9524113;9543386;9689060 10971 B4DMT8;E9PG15;P27348 AA729400;ABBA01015592;AC073195;AC082651;AF070556;AK297624;AK302208;AK309462;AK316158;AMYH02003252;AMYH02003253;BC001197;BC050601;BC056867;BC093019;BT020014;CH471053;CS185527;HY044745;NM_006826;X56468;X57347 AAC28640;AAH50601;AAH56867;AAH93019;AAV38817;AAX93143;AAY24326;BAG60000;BAG63566;BAH14529;CAA39840;CAA40622;CAJ42708;CAL38208;CAL38216;CAL38236;CAL38550;EAX00977;EAX00978;EAX00979;NP_006817;P27348 Hs.74405 1797054;5016745;5113601;5114051;5126351 D10S2166;D22S1126;RH15607;RH70237;YWHAQ_1656 14-3-3;1C5;HS1 14-3-3 protein T-cell;14-3-3 protein tau;14-3-3 protein theta;OTTHUMP00000015730;OTTHUMP00000165887;protein tau;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide APPROVED protein-coding ENSG00000134308 HGNC:12854 00886 609009 REVIEWED 6480159 YWHAQP9 YWHAQ pseudogene 9 1 1 q43 238269754 238271890 - 238106454 238108590 - 101290508 ABBA01033191;AL359203;AMYH02002998;NG_033177 pseudo ENSG00000230019 HGNC:37688 INFERRED 3051037 YWHAQP5 YWHAQ pseudogene 5 2 2 2 q11.2 93515782 93517160 + 99310578 99311956 + 98694115 98695493 + 100130391 ABBA01073965;ABBA01073966;AC064860;AMYH02004388;NG_028174 2116518;5092652 A005M31;G32240 pseudo HGNC:37684 INFERRED 737555 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009] 22 22 22 q12.3 16140927 16154032 + 32340479 32353590 + 31944493 31957603 + 1331525;1580863;6480464;6484113;6907045 15118671 10206237;10330186;10441394;10591208;10620507;10713667;11121172;11266503;11352901;11531413;11533041;11697890;11864996;11886850;11953308;11969417;11996670;12042314;12176984;12176995;12177059;12433946;12438239;12477932;12480176;12507503;12595070;12665801;12730237;12871946;12919677;14505491;14676191;14690447;14743216;15023544;15116094;15142377;15265780;15324660;15461802;15489334;15580267;15696159;15708996;1578511;15790729;15791647;16041367;16045749;16093354;16096643;16459651;16511560;16545136;16581770;16716084;16728661;16775625;16868027;16888623;16902409;16968670;17255105;17611984;17620599;17979178;18274552;18397886;18779327;18781797;18950845;19034380;19056867;19160447;19172738;19322201;19558434;19615732;19738201;20012529;20224040;20388496;20478393;20562859;20618440;20639865;20642453;20936779;21081666;21139048;21145461;21145499;21318276;21319273;21416292;21432775;21706016;21739144;21890473;21903422;21906983;21963094;21987572;21988832;22053931;22222486;22505724;22562251;22588126;22706160;22863883;23000965;23383273;23428871;23444366;23658844;23752268;23824909;23938468;24250222;24255178;24654937;24816145;25027693;25036637;2902623;7499362;7615088;7690594;8218406;8515476;8561965;8617504;8619474;8668348;8702721;8812417;9079630;9110174;9197417;9278512;9299557;9369453;9428519;9524113;9705322;9738002;9799109 7533 A2IDB1;A2IDB2;F8WEB6;Q04917;Q9H4N8 ABBA01055356;ABBA01055357;AK312650;AMYH02038258;AY007132;BC003047;CH471095;CR456612;D78577;KF510584;L08439;L20422;NM_003405;S80794;X57345;X78138;X80536;Z82248 AAA35483;AAB36036;AAG01995;AAH03047;BAA11418;BAG35533;CAA40620;CAA55017;CAA56676;CAG30498;CAK54639;CAK54938;EAW60001;EAW60002;EAW60003;NP_003396;Q04917 Hs.226755 1744377;1797052;1800244;1804876;1805044;1806510;1806806;1807210;1807346;1807882;1808866;1814548;1823110;1829682;1830182;1830980;1834336;1838356;1840782;1858526;2009922;2009924;2009926;2009928;2009930;2009932;2009934;2009936;2009938;2009940;2009942;2009944;2009946;2009948;2009950;2009952;2009954;2009956;2009958;2009960;2009962;2009964;2009966;2009968;2009970;2009972;2009974;2009976;2009978;2009980;2009982;2009984;2009986;2009988;2009990;2009992;2009994;2009996;2009998;2010000;2010002;2010004;2010006;2010008;2010010;2010012;2010014;2010016;2010018;2010020;2010022;2010024;2010026;2010028;2010030;2010032;2010034;2010036;2010038;2010040;2010042;2010044;2010046;2010048;2010050;2010052;2098080;2098082;2098084;2098086;2098088;2098090;2098092;2098094;2098096;2098098;2098100;2121958;2138413;2152092 ECD00980;ECD03373;ECD03463;ECD04212;ECD04365;ECD04571;ECD04644;ECD04916;ECD05416;ECD08304;ECD12643;ECD15973;ECD16224;ECD16626;ECD18316;ECD20352;ECD21582;GDB:452620;REN75882;REN75883;REN75884;REN75885;REN75886;REN75887;REN75888;REN75889;REN75890;REN75891;REN75892;REN75893;REN75894;REN75895;REN75896;REN75897;REN75898;REN75899;REN75900;REN75901;REN75902;REN75903;REN75904;REN75905;REN75906;REN75907;REN75908;REN75909;REN75910;REN75911;REN75912;REN75913;REN75914;REN75915;REN75916;REN75917;REN75918;REN75919;REN75920;REN75921;REN75922;REN75923;REN75924;REN75925;REN75926;REN75927;REN75928;REN75929;REN75930;REN75931;REN75932;REN75933;REN75934;REN75935;REN75936;REN75937;REN75938;REN75939;REN75940;REN75941;REN75942;REN75943;REN75944;REN75945;REN75946;REN75947;RH18134;SHGC-37700;SHGC-4185;WI-15366;YWHAH_1118;stSG602414;stSG602416;stSG602417;stSG602418;stSG602419;stSG602420;stSG602421;stSG602422;stSG602423;stSG602424;stSG602425 YWHA1 14-3-3 eta;14-3-3 protein eta;OTTHUMP00000028905;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide APPROVED protein-coding ENSG00000128245 HGNC:12853 00215 113508 REVIEWED 737527 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.1 40222982 40245799 + 43514240 43537173 + 44885599 44908532 + 1331525;1580863;2306031;2298728;6480464;6484113;6907045 12786973;15118671;15902199 10195903;10407019;10409742;10441394;10559254;10620507;10644344;10681541;10712923;10713667;10775038;10785390;10840038;10848612;10862767;10869435;10931830;10958686;11157475;11279064;11313964;11520933;11531413;11549316;11555644;11697890;11700305;11780052;11784866;11886850;11912194;11984006;11985497;11996670;12176984;12360521;12364343;12424248;12433946;12437930;12438239;12446771;12453887;12468542;12477932;12482592;12507503;12582162;12618428;12619878;12620389;12657644;12665801;12669242;12871587;12911633;12919677;12937170;12963375;14505491;14651979;14675149;14676191;14679215;14680818;14701738;14743216;15022330;15032605;15057270;15103018;15142377;15159416;15163635;15229649;15231831;15265780;15284440;15324659;15324660;15389601;15454081;15489334;15629149;15696159;15708996;15726117;15791647;15883043;16024783;16041367;16045749;16093354;16099816;16166738;16196087;16205633;16227609;16246723;16282323;16368544;16511560;16581770;16636147;16679322;16775625;16868027;16888623;16968670;17030608;17081065;17098443;17229891;17255105;17292828;17314511;17353931;17369396;17531190;17620012;17620599;17717073;17974916;17979178;18029035;18029348;18094049;18160415;18239087;18356162;18460465;18626018;18762889;18779327;18781797;19135240;19172738;19173300;19199708;19270694;19322201;19360691;19380743;19471022;19558434;19615732;19725029;19738201;19821490;19940129;19946888;20000738;20012529;20070120;20194617;20338996;20381070;20388496;20478393;20562859;20598904;20618440;20639865;20642453;20936779;21081666;21135113;21139048;21145461;21145499;21147917;21209461;21262972;21282530;21396404;21416292;21533173;21553213;21565611;21598387;21706016;21708191;21832049;21890473;21900206;21903422;21906983;21925390;21935479;21948273;21963094;21972092;21987572;22053931;22125622;22178446;22190034;22222486;22278744;22304920;22505724;22588126;22623428;22785534;22863883;22939629;22948661;22952844;22990118;23000965;23053962;23383273;23444366;23602568;23752268;23772394;23824909;23938468;24038028;24255178;24269229;24636949;24654937;24816145;25027693;25036637;7644510;7890696;8037685;8515476;8617504;8702721;9069260;9069267;9144171;9341175;9367879;9369453;9422753;9428519;9524113;9543386;9581554;9705322;9921901 7529 P31946;Q4VY19;Q4VY20;V9HWD6 AA845374;AB209759;AB451260;AB451386;ABBA01052654;ABBA01052655;AF064847;AF107406;AK292717;AL008725;AL834170;AMYH02037142;AMYH02037143;BC001359;BC010352;BF316820;CH471077;DB443535;EU794580;NM_003404;NM_139323;X57346 AAD44524;AAH01359;ACE86904;ACE87591;ACJ13634;BAD92996;BAF85406;BAG70074;BAG70200;CAA40621;EAW75893;EAW75894;EAW75895;EAW75896;NP_003395;NP_647539;P31946 Hs.643544 1657177;1683809;1735002;1797050;1848354;2153160;2165363;5016455;5016727;5091784 AL022350;D20S528E;D20S556E;D20S586E;RH66089;SHGC-37252;STS-N23075;STS-X57346;YWHAB__1218;Z94504 GW128;HEL-S-1;HS1;KCIP-1 14-3-3 alpha;14-3-3 protein beta/alpha;OTTHUMP00000031075;OTTHUMP00000031076;YWHAA;brain protein 14-3-3, beta isoform;epididymis secretory protein Li 1;protein 1054;protein kinase C inhibitor protein 1;protein kinase C inhibitor protein-1;tyrosine 3-monooxgenase/tryptophan 5 monooxgenase activation protein, beta polypeptide;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide APPROVED protein-coding ENSG00000166913 HGNC:12849 03184 601289 REVIEWED 1346698 YWHAZP1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 1 14 14 14 q21.2 24620035 24621207 - 44759862 44761034 - 44290659 44291831 - 319120 ABBA01018035;AL355888;AMYH02029092;NG_002501 YWHAZP;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene pseudo HGNC:19938 INFERRED 3457459 YWHAQP8 YWHAQ pseudogene 8 X X X q22.1 100964214 100965227 - 100445448 100446461 - 101190459 101191472 - 21906983 392510 ABBA01044951;AMYH02040065;DQ145510;NG_005333;Z70280 Hs.558883 pseudo HGNC:37687 INFERRED 1354163 YWHAZP3 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 3 10 10 10 p12.2 23113367 23116309 + 23425839 23428707 + 23136910 23139778 + 143371 ABBA01034470;AL139281;AMYH02022444;NG_001545 pseudo HGNC:31101 INFERRED 1604196 YWHAZP4 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 4 6 6 6 q23.1 128419080 128422263 + 127676817 127680000 + 127355672 127358855 + 246737 ABBA01025934;AL109939;AMYH02014447;NG_001587 pseudo HGNC:30851 INFERRED 1626537 YWHAZP5 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 5 10 10 10 q25.1 101186332 101189840 + 107446066 107449482 + 105686308 105689724 + 86123 ABBA01063077;AL591363;AMYH02023749;NG_001531 pseudo HGNC:30564 INFERRED 4144257 YWHAZP6 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 6 9 9 9 p13.3 34852739 34854571 - 34921184 34923016 - 34921187 34923019 - 158383 ABBA01065003;AL355377;AMYH02019454;NG_001561 pseudo HGNC:30849 INFERRED 4144422 YWHAZP7 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 7 X X X q11.2 64179243 64179760 - 63832030 63833298 - 64612150 64613418 - 100130640 ABBA01066916;AL356265;AMYH02039601;NG_028959 2128179 WI-16836 pseudo HGNC:39028 INFERRED 4144301 YWHAZP8 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 8 X X X q13.2 72778127 72778858 + 72494621 72495352 + 73274785 73275516 + 646016 ABBA01059693;AC004074;AMYH02039769;NG_022672 1682948;1683417;1702436 D1S2271;DXS1677;RH28291 pseudo HGNC:39029 INFERRED 7241119 YY1P1 YY1 transcription factor pseudogene 1 10 10 10 65526574 65527191 - 72245473 72246090 - 70485717 70486334 - 100419963 ABBA01019628;AC022532;AMYH02023287;NG_025445 pseudo HGNC:45094 INFERRED 7240970 YY1P2 YY1 transcription factor pseudogene 2 2 2 2 q22.1 133366478 133368331 + 139654894 139656744 + 138897324 138899174 + 647012 ABBA01028117;AC023468;AMYH02004878;BC042175;BI915156;NR_033658 Hs.639411 pseudo HGNC:45095 VALIDATED 1342734 YWHAZP2 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 2 2 2 2 q14.3 120628572 120631535 - 127312878 127315756 - 126555301 126558179 - 9847074 150554 ABBA01040224;AC013474;AMYH02004726;NG_001553 pseudo HGNC:31078 INFERRED 1605369 YY1AP1 YY1 associated protein 1 The encoded gene product presumably interacts with YY1 protein; however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 1 q22 128702315 128731875 - 155629233 155658823 - 155659442 155689032 - 6480464;8554872 11076863;11230166;11710830;11856496;12118372;12477932;14702039;14744866;15302935;15489334;15489336;16189514;16381901;16710414;16713569;17541814;17986458;18029348;19471022;20936779;21139048;21278236;21693764;21900206;21963094;21988832;22895435;23184937;23258147;23450633;23769673;23954413;24250222;24747426;8125298 55249 A3KFK1;A3KFK2;B0QZ55;B4DQQ0;B4DZQ4;F8WD62;I6L9C2;Q68CT8;Q9H869 ABBA01016688;ABBA01016689;ABBA01016690;AF203474;AF206328;AF466401;AK001737;AK023976;AK125590;AK225883;AK297562;AK298904;AK303046;AK303386;AK303944;AK309701;AK315049;AL162734;AMYH02001952;AY604179;BC001655;BC001843;BC003500;BC008766;BC009358;BC014906;BC025272;BC044887;BG325066;BX088689;CH471121;CR749789;DC300265;DC346197;DC388975;DC399389;DC406177;NM_001198899;NM_001198900;NM_001198901;NM_001198902;NM_001198903;NM_001198904;NM_001198905;NM_001198906;NM_018253;NM_139118;NM_139119;NM_139121;XM_006711432;XM_006711433;XM_006711434;XM_006711435;XM_006711436;XR_426788 AAH01655;AAH01843;AAH08766;AAH09358;AAH14906;AAH44887;AAL74055;AAL75971;AAO13249;AAT34990;BAA91871;BAB14748;BAG59954;BAG61012;BAG64166;BAG64442;BAG64872;CAH18650;CAL38222;CAL38727;EAW53052;EAW53053;EAW53054;EAW53055;EAW53056;EAW53057;EAW53058;EAW53059;EAW53060;NP_001185828;NP_001185829;NP_001185830;NP_001185831;NP_001185832;NP_001185833;NP_001185834;NP_001185835;NP_060723;NP_620829;NP_620830;NP_620832;Q9H869;XP_006711495;XP_006711496;XP_006711497;XP_006711498;XP_006711499 Hs.584927 1701670;1775355;2113580;2143406;2150144;2181845;5022200;5037552 D1S1799E;D1S2539;D8S2279;L18426;RH104507;RH12294;RH15932;YAP_v447 FLJ10875;FLJ13914;HCCA1;HCCA2;YAP;YY1AP OTTHUMP00000033473;OTTHUMP00000033474;OTTHUMP00000033475;OTTHUMP00000033476;OTTHUMP00000033477;OTTHUMP00000033478;OTTHUMP00000033479;OTTHUMP00000200831;OTTHUMP00000200832;OTTHUMP00000200833;OTTHUMP00000200836;OTTHUMP00000200837;YY1-associated protein 1;hepatocellular carcinoma susceptibility protein;hepatocellular carcinoma-associated protein 2 APPROVED protein-coding ENSG00000163374 HGNC:30935 08485 607860 REVIEWED 1354472 YY2 YY2 transcription factor The protein encoded by this gene is a transcription factor that includes several Kruppel-like zinc fingers in its C-terminal region. It possesses both activation and repression domains, and it can therefore have both positive and negative effects on the transcription of target genes. This gene has an intronless coding region, and it appears to have arisen by retrotransposition of the related YY1 transcription factor gene, which is located on chromosome 14. [provided by RefSeq, May 2010] X X X p22.2-p22.1 25995801 25998522 + 21874105 21876845 + 21855987 21858727 + 737633;6480464 12477932 14702039;15087442;16260628;16344560;16377127;17478514;18029348;19026728;19471022;19710015;20215434;21530438;22248057 404281 O15391 ABBA01072007;AK091850;AMYH02039002;AY567472;BC137215;BC137217;CH471074;DA961884;DB029513;DB459498;NG_012797;NG_021268;NM_206923;U73479 AAD08633;AAI37216;AAI37218;AAS68634;BAG52427;EAW98983;NP_996806;O15391 Hs.673601 ZNF631 OTTHUMP00000023045;transcription factor YY2;transcription factor yin yang 2;yin and yang 2;zinc finger protein 631 APPROVED protein-coding ENSG00000230797 HGNC:31684 15684 300570 REVIEWED 4144424 YWHAZP9 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 9 11 11 11 q12.1 57209086 57212426 + 59844701 59848044 + 60077228 60080571 + 441609 ABBA01021510;AMYH02024870;AP000790;NG_005491 pseudo HGNC:39030 INFERRED 1604695 ZACN zinc activated ligand-gated ion channel LGICZ1 is a zinc-activated ligand-gated ion channel that defines a new subgroup of the cysteine-loop superfamily of ligand-gated ion channels (Davies et al., 2003 [PubMed 12381728]).[supplied by OMIM, Mar 2008] 17 17 17 q25.3 70669095 70672716 + 74075263 74078885 + 76079182 76082804 + 6480464 12381728;12477932;15286800;16083862;16344560 353174 Q401N2 AB223030;ABBA01028759;AC018665;AF512521;AK122638;AMYH02034006;BC110596;BC110597;CH471099;DB119720;NG_030672;NM_180990;XM_006721863 AAI10598;AAO20969;BAE19924;EAW89365;EAW89366;NP_851321;Q401N2;XP_006721926 Hs.714919 2108071;2143434 EXOC7__7609;SHGC-36023 L2;LGICZ;LGICZ1;MGC129841;ZAC;ZAC1 OTTHUMP00000211661;ligand-gated ion channel subunit;ligand-gated ion channel zinc-activated 1;ligand-gated ion channel, zinc activated 1;ligand-gated ion-channel receptor L2;zinc activated ligand-gated ion channel 1;zinc-activated ligand-gated ion channel APPROVED protein-coding ENSG00000186919 HGNC:29504 17271 610935 VALIDATED 1320648 ZADH2 zinc binding alcohol dehydrogenase domain containing 2 ENCODES a protein that exhibits oxidoreductase activity (inferred); zinc ion binding (inferred); INVOLVED IN oxidation-reduction process (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN peroxisome (ortholog); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl 18 18 18 q22.3 69727946 69739950 - 72909278 72921281 - 75197323 75209326 - 737633;1580863;6480464;8554872 12477932 15489334;17207965;19322201;19690890;19953087;20877624;21139048;21832049;22002062;22087225;25027693 284273 J3KTQ8;J3QQQ7;Q4G1C4;Q8N4Q0 ABBA01015267;ABBA01015268;AC025105;AK292880;AK302801;AMYH02034997;BC010734;BC018081;BC033780;BC064618;BC075853;BC078661;BX647730;CH471117;HH961818;NM_175907;XM_005266686;XM_005266687 AAH18081;AAH33780;AAH78661;ADQ31749;BAF85569;BAG64003;CBX51382;EAW66569;NP_787103;Q8N4Q0;XP_005266743;XP_005266744 Hs.465433 1672941;1700538;1778520;2126924 RH103890;RH47795;RH78532;WI-22260 MGC45594 OTTHUMP00000163757;zinc-binding alcohol dehydrogenase domain-containing protein 2 protein-coding HGNC:28697 15685 VALIDATED 1351487 ZAR1 zygote arrest 1 This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation of embryogenesis. A similar protein in mouse is required for female fertility. [provided by RefSeq, Jul 2013] 4 4 4 p11 48941100 48945109 + 48492269 48496406 + 48490252 48494389 + 1580863;6480464 12477932;12539046;12773403;16551357;20654783;21206179;23583134 326340 B9EG67;Q86SH2 ABBA01014350;AC096952;AI217763;AMYH02009168;AY191416;AY193890;BC136265;CH471069;NM_175619 AAI36266;AAO24707;AAO24709;EAW93062;NP_783318;Q86SH2 Hs.276457 Z3CXXC6 OTTHUMP00000128286;oocyte-specific maternal effect factor;zinc finger, 3CxxC-type 6;zygote arrest protein 1 APPROVED protein-coding ENSG00000182223 HGNC:20436 09599 607520 REVIEWED 736756 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008] 8 8 8 q23.1 98115836 98150667 - 101930804 101965717 - 100918576 100953489 - 1625714;6480464;6484113;6907045;9587483;9479074;9587480;9587478 16981892;17927670;21310218;22984478;23642229 10026197;10102273;10224112;10358015;10407019;10411906;10441394;10455159;10477722;10488331;10559254;10611249;10620507;10627461;10642536;10644344;10681541;10713667;10785390;10835362;10840038;10864927;10887173;11124266;11178869;11237865;11257119;11287646;11331285;11336675;11359875;11410287;11427721;11486037;11504882;11531413;11533041;11563969;11697890;11700305;11912194;11912208;11917136;11950841;11956222;11984006;11985497;12176984;12176995;12215538;12323073;12361576;12364343;12433946;12438239;12468542;12477932;12589811;12615066;12665801;12757707;12764136;12819209;12853467;12861023;12893243;12919677;12963375;14505491;14676191;14690436;14702098;14743216;14970201;15003508;15023544;15028637;15032605;15036595;15037601;15054037;15057270;15073173;15142377;15146197;15159416;15161933;15163635;15225635;15229649;15234461;15265780;15324659;15324660;15347690;15363479;15364926;15389569;15489334;15492215;15616007;15629715;15650334;15660133;15664191;15696159;15708996;15721295;1577711;15778465;15791647;15883043;16027165;16041367;16045749;16093354;16114898;16123035;16130169;16169070;16196087;16223362;16226712;16246723;16306228;16341674;16368544;16376338;16413928;16420525;16502470;16511560;16516142;16581770;16679322;16868027;16888623;16968670;16968750;17043677;17081065;17081983;17292828;17317006;17353931;17361185;17620599;17630505;17643375;17704798;17719568;17720156;17764575;17918986;17979178;18039662;18078716;18160415;18162532;18290843;18319590;18356162;18472156;18559254;18573912;18618111;18779327;18951430;19034380;19056867;19062179;19135240;19138662;19172738;19173300;19184136;19198587;19218246;19338310;19371722;19401330;19471022;19525224;19531499;19647741;19662078;19667065;19725029;19732720;19738201;19766566;19860830;19875727;20000738;20012529;20129940;20224040;20308060;20379614;20381070;20384366;20388496;20471030;20478393;20603015;20618440;20639865;20642453;20843328;20885446;20936779;21028892;21076048;21081103;21081666;21118500;21139048;21145461;21145499;21209461;21242845;21282530;21302295;21319273;21334806;21533173;21554249;21621563;21706016;21707964;21743495;21800051;21832049;21890473;21900206;21903422;21906983;21963094;21965683;21978388;21987572;21988832;22001647;22010828;22053931;22069327;22072711;22124272;22178446;22190034;22222486;22268729;22279540;22450169;22505724;22588126;22623428;22794279;22797925;22808202;22863883;22904106;22912335;22922483;22939629;22948661;22952844;22989890;22990118;23000965;23125841;23175360;23269842;23271328;23316005;23318431;23364796;23383273;23402259;23422756;23428871;23438482;23444366;23455924;23603156;23622247;23667531;23752268;23754751;23824909;23956138;23962087;24043626;24114522;24129571;24250222;24255178;24269678;24367683;24550385;24583282;24603438;24804299;24812321;24816145;24956593;25015289;25027693;25036637;7536343;7547034;7559537;7603574;7628630;7890696;7939632;7939633;8024705;8034572;8037685;8101440;8278375;8617504;8631758;8668348;8702721;9092538;9115393;9144171;9153224;9197417;9261098;9299557;9312143;9360956;9367879;9398266;9425086;9428519;9452471;9454760;9512661;9524113;9581554;9620776;9632690;9705322;9858547 7534 B0AZS6;B7Z2E6;D0PNI1;E5RGE1;E5RIR4;E7ESK7;E7EVZ2;E7EX29;E9PD24;H0YB80;P63104 AA830489;ABBA01037589;AC018781;AC027373;AK289945;AK294647;AK296902;AK307506;AK315867;AMYH02018509;AMYH02018510;AMYH02018511;BC003623;BC013265;BC051814;BC063824;BC068456;BC070389;BC072426;BC073141;BC083508;BC099904;BC101483;BC108281;BC111951;BM783874;BQ605329;CH471060;CN276619;CN276627;CR996247;DB472116;DC298291;DQ185048;EF094937;EU794582;EU794583;M86400;NM_001135699;NM_001135700;NM_001135701;NM_001135702;NM_003406;NM_145690;S79449;U28964;XM_005251060;XM_005251061;XM_005251062;XM_005251063 AAA36446;AAC52052;AAD14300;AAH03623;AAH51814;AAH63824;AAH68456;AAH72426;AAH73141;AAH83508;AAH99904;AAI01484;AAI08282;AAI11952;ABD14427;ABM82632;ABM85810;ABO15003;ACJ13636;ACJ13637;BAF82634;BAF98758;BAH11832;BAH12451;EAW91823;EAW91824;EAW91825;EAW91826;EAW91827;EAW91828;EAW91829;NP_001129171;NP_001129172;NP_001129173;NP_001129174;NP_003397;NP_663723;P63104;XP_005251117;XP_005251118;XP_005251119;XP_005251120 Hs.492407 1648435;1791818;5126843 PMC126239P3;PMC150726P7;SHGC-35187 14-3-3-zeta;HEL-S-3;HEL4;KCIP-1;MGC111427;MGC126532;MGC138156 14-3-3 delta;14-3-3 protein zeta/delta;14-3-3 protein/cytosolic phospholipase A2;14-3-3 zeta;OTTHUMP00000165851;OTTHUMP00000165852;OTTHUMP00000165854;OTTHUMP00000165857;OTTHUMP00000165858;OTTHUMP00000165859;OTTHUMP00000165860;OTTHUMP00000227482;OTTHUMP00000227483;OTTHUMP00000227485;YWHAD;epididymis luminal protein 4;epididymis secretory protein Li 3;phospholipase A2;protein kinase C inhibitor protein 1;protein kinase C inhibitor protein-1;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide;tyrosine 3/tryptophan 5 -monooxygenase activation protein, zeta polypeptide APPROVED protein-coding ENSG00000164924 HGNC:12855 03183 601288 REVIEWED 736235 YY1 YY1 transcription factor YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [provided by RefSeq, Jul 2008] 14 14 14 q 80759739 80799431 + 100705102 100745371 + 100238765 100279034 + 1580831;1580832;628455;1580863;6480464;6484113;9495926;8554872 11487577;12754214;15567155;21502417 10224053;10369680;10452940;10866666;10888618;11158321;11287625;11448987;11486036;11532945;11777930;11940654;11953439;12393438;12411495;12477932;12483538;12571248;12588874;12704081;12788099;12805085;12808092;12913000;12920132;14610174;14707079;15084399;15153544;15210108;15291746;15295102;15302935;15367688;15489334;15520282;15576338;15586248;15782117;15805285;15831475;15870067;15899857;15942652;15955096;16143308;16147992;16170350;16260628;16314465;16344560;1655281;16565220;16624538;16769183;16822951;16878156;16918502;16922677;16954376;16963455;17192956;17218270;17287852;17353273;17434929;17510411;17549406;17556661;17721549;17827154;17925399;17973082;17973241;17980704;17990281;18026119;18029348;18339860;18389627;18391986;18423564;18424742;18480431;18485096;18488713;18542060;18558095;18632988;18634613;18729074;18753137;18922472;18940814;18950698;19013255;19034670;19129193;19139378;19164126;19235591;19279113;19297611;19322201;19360355;19454010;1946405;19483472;19553391;19566924;19575798;19685047;19712462;19720140;19793915;19879840;19913121;19953087;20025767;20081364;20081375;20105288;20138641;20211142;20215434;20233728;20237276;20309604;20430007;20431063;20504995;20519390;20596523;20660740;20663886;20666933;20686494;20805357;20811636;21048031;21057508;21139048;21182263;21252943;21253604;21282644;21303910;21326896;21332389;21335086;21345358;21376359;21378158;21385102;21454521;21549307;21565439;21666725;21693764;21792014;21795679;21832049;21839814;21906983;21952639;21963094;21987572;21988832;22065573;22169291;22184066;22210892;22248053;22248054;22248055;22248056;22248057;22248058;22248059;22253417;22262839;22267549;22292071;22391813;22440256;22467534;22505724;22536409;22659184;22776217;22907428;22929025;22939629;22944692;23000965;23208495;23226345;23287719;23328582;23348961;23403125;23523134;23539139;23560079;23630070;23757039;23776572;23803414;23813057;23874387;23919806;24026176;24116200;24326773;24369345;24418559;24457600;24508259;24515614;24803334;24816145;7541038;7758944;7769693;7912122;8266081;8268924;8289393;8327494;8917507;8942976;9016636;9199306;9278494;9346952;9371597;9493912;9642075;9685495;9857059 7528 G3V3M8;H0YJU4;H0YJV7;P25490 ABBA01048531;ABBA01048532;ABBA01048533;AF047455;AF147416;AK025731;AK026497;AL157871;AMYH02029848;AMYH02029849;AMYH02029850;AMYH02029851;BC014138;BC020324;BC037308;BC065366;CH471061;DA234524;M76541;M77698;NM_003403;Z14077 AAA59467;AAA59926;AAH37308;AAH65366;ABM82564;ABW03401;CAA78455;EAW81689;EAW81690;NP_003394;P25490 Hs.388927;Hs.603118 1748531;1854152;2131611;2134813;2138858;2142922;2145166;2147578;2154081;2154186;2156571;2157893;2163418;2173134;2218650 A006N16;D14S1203;D14S1300;G06170;G35620;G36215;G36321;HUM000HE11;RH1618;RH44921;RH68412;SHGC-32732;SHGC-87;WI-19259;YY1__3892 INO80S;NF-E1;UCRBP;YIN-YANG-1;YY-1 DELTA;INO80 complex subunit S;OTTHUMP00000197459;OTTHUMP00000246388;Yin and Yang 1 protein;delta transcription factor;transcriptional repressor protein YY1 APPROVED protein-coding HGNC:12856 02482 600013 REVIEWED 1601997 ZAK sterile alpha motif and leucine zipper containing kinase AZK This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 2 q24.2 167553959 167746148 + 173940440 174132737 + 173075837 173268009 + 2293875;6480464;6907045;7240533;8554872 17306896;20626350 10924358;11042189;11549352;11836244;12220515;12477932;12535642;12761180;14702039;15172994;15324660;15342622;15465036;15485649;15489334;15684425;15737997;15778465;15815621;16189514;16344560;16964243;17192257;18029348;18331592;19322201;19953087;20331627;20379614;20408143;21139048;21305317;21890473;21900206;21988832;23000965;23319595;24170769;24255178;24816145 51776 D4Q8H0;Q9NYL2 AA258354;AB030034;AB041883;AB049733;AB049734;AB208974;ABBA01020746;ABBA01020747;AC013461;AC019046;AC092573;AF238255;AF251441;AF325454;AF465843;AF480461;AF480462;AI799498;AK056310;AK095825;AK096877;AK291825;AK298634;AL833180;AMYH02005248;AMYH02005249;AMYH02005250;BC001401;BF055268;CB955745;CH471058;CQ834626;DA993056;KF456740;NG_029373;NM_016653;NM_133646;XM_005246640 AAF63490;AAF65822;AAH01401;AAK11615;AAL85891;AAL85892;AAO33376;AAX82002;AAX93067;BAB12040;BAB16444;BAB16445;BAD92211;BAF84514;BAG51674;BAG60809;BAJ05400;CAH05528;EAX11164;EAX11165;EAX11166;NP_057737;NP_598407;Q9NYL2;XP_005246697 Hs.444451 1675015;1684058;1697958;1708400;1709028;1725305;2137141;2148274;5014051;5016478;5016781;5020274;5022578;5024516;5037552;5093168 A009I04;D13S1568;D1S1423;D8S2278;D8S2279;G32560;GDB:434012;L18441;RH102508;RH11697;RH118970;RH69341;RH80553;SHGC-67307;SHGC-79584;SHGC-82889 AZK;HCCS-4;MLK7;MLT;MLTK;MRK;mlklak;pk MLK-like mitogen-activated protein triple kinase;MLK-related kinase;OTTHUMP00000163140;OTTHUMP00000163141;OTTHUMP00000205097;cervical cancer suppressor gene 4 protein;human cervical cancer suppressor gene 4 protein;leucine zipper- and sterile alpha motif-containing kinase;mitogen-activated protein kinase kinase kinase MLT;mixed lineage kinase 7;mixed lineage kinase with a leucine zipper and a sterile alpha motif;mixed lineage kinase-related kinase MRK-beta;protein kinase;sterile alpha motif- and leucine zipper-containing kinase AZK APPROVED protein-coding ENSG00000091436 11791 609479 REVIEWED 1602864 ZBBX zinc finger, B-box domain containing ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular (inferred); INTERACTS WITH pirinixic acid; valproic acid; zinc atom 3 3 3 q26.1 165356741 165496610 - 166958075 167098193 - 167240287 167380405 - 6480464;8554872 12477932;14702039;16344560;8889548 79740 A8MT70;B7ZMD2;C9J608;C9JVV2;H7C4M7;H7C534;H7C590 ABBA01058730;ABBA01058731;AC107311;AC117463;AK026702;AK093296;AMYH02008082;BC034229;BC144444;CB321707;CH471052;DA590037;DB078376;NM_001199201;NM_001199202;NM_024687;XM_005247777;XM_005247779;XM_006713747;XM_006713748 A8MT70;AAI44445;BAB15532;BAG52683;EAW78589;NP_001186130;NP_001186131;NP_078963;XP_005247834;XP_005247836;XP_006713810;XP_006713811 Hs.478143 1336284;1756509;1768422;1784626;5024725 D3S2356;D3S3712;RH92014;SHGC-112354;SHGC-143529 FLJ23049 OTTHUMP00000164910;OTTHUMP00000164931;OTTHUMP00000164932;hypothetical protein flj23049;zinc finger B-box domain-containing protein 1 protein-coding ENSG00000169064 HGNC:26245 08015 VALIDATED 2311474 ZAR1L zygote arrest 1-like This gene encodes a member of the ZAR1 family that is predominantly expressed in oocytes and early embryos. The protein may function as an RNA regulator in early embryos. [provided by RefSeq, Apr 2010] 13 13 13 q13.1 13944739 13952921 - 32877908 32886091 - 32303771 32311954 - 8554872 12477932;15057823;18442940;19913121;20202217;20628086 646799 A6NP61 ABBA01010133;ABBA01010134;AL445212;AMYH02027822;AMYH02027823;BC146956;BC146965;HC044869;NG_017006;NM_001136571 A6NP61;AAI46957;AAI46966;CBH30764;NP_001130043 Hs.569254 RP11-37E23.4;Z3CXXC7;ZAR2 OTTHUMP00000204129;ZAR1-like protein;zinc finger, 3CxxC-type 7 APPROVED protein-coding ENSG00000189167 HGNC:37116 REVIEWED 6484013 ZBED1P1 zinc finger, BED-type containing 1 pseudogene 1 4 4 4 q25 108492507 108508899 + 111198425 111214816 + 110277269 110293660 + 645145 ABBA01063797;AC005187;AC108145;AMYH02009910;NG_008326 2138195 SHGC-23236 ZBED1P pseudo HGNC:44004 INFERRED 1349191 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q12 92533995 92560286 + 98330031 98356990 + 97713568 97739860 + 1580863;1599880;6480464;6484113;6907045;7240710;8699517;8554872 8124727 10037717;10074432;10078535;10209036;10221598;10318843;10419455;10449770;10458769;10660534;10779765;10790433;10867021;10966114;10979964;11048639;11133830;11279207;11353765;11368773;11390470;11412303;11572860;11781312;11855827;11891219;11964272;11976341;12051764;12084069;12150984;12154360;12165490;12186560;12190313;12359715;12387734;12393534;12447358;12450381;12477932;12504004;12522270;12595313;12646565;12648457;12778467;12817019;12847255;1423621;14523017;14557276;14560012;14672952;14766232;14985102;15059847;15084271;15100278;15133473;15143214;15144186;15190462;15292186;15358536;15370248;15489334;15514014;15536084;15588985;15592455;15688026;15699074;15735648;15759031;15800671;15856008;15861514;15923611;15972449;15996927;16079094;16079107;16094384;16096284;16219325;16263570;16273093;16291755;16300468;16339550;16406604;16412387;16418492;16461343;16467082;16467851;16503409;16538501;16642047;16823829;16888650;16906159;16932341;17038529;17051526;17192257;17215865;17222799;17375875;17492476;17512407;17534928;17577788;17652306;17702857;17767948;17785822;17926183;17931624;17948236;18005690;18022252;18025306;18029348;18048647;18190465;18203013;18311544;18322442;18333847;18424730;18453590;18519230;18577710;18616755;18683785;18687687;18689273;18757853;18770822;18770856;18818202;18854088;19018007;19021053;19050243;19136305;19230824;19267204;19297020;19298946;19377082;19454010;19575876;19679010;19710135;19727816;19826250;19907441;19920178;19944462;20001236;20014315;20029467;20056178;20132303;20145264;20164537;20228263;20301777;20488542;20534575;20575031;20637659;20657554;20702582;20842205;20864151;20890395;21055809;21079155;21200022;21205967;21344162;21453975;21463115;21607290;21716207;21725281;21832049;21856938;21887278;21945028;21988832;22002134;22151263;22171799;22207134;22266821;22338471;22362302;22505724;22564988;22664044;22802418;22839722;22844345;22888118;22965421;22971532;22984268;23097993;23124046;23227982;23245794;23267066;23293025;23406209;23514740;23530057;23572149;23620790;23686733;23786282;23916875;23981382;24103478;24164480;24166938;24204825;24219331;24256567;24312539;24816145;24868078;7522245;7528772;7539035;7629168;7630421;7737297;7760813;7761456;7798261;7819147;7961936;8082894;8176201;8202712;8202713;8366117;8530437;8613493;8621646;8638162;8702662;8756661;8761298;8798643;8906806;8943371;9036949;9047237;9169414;9269777;9362531;9378960;9403695;9407100;9464824;9490415;9685404;9698567;9846481;9988730 7535 P43403 AB083211;ABBA01073975;AC016699;AC017099;AK303341;AK310628;AK310637;AL832287;AMYH02004379;BC039039;BC053878;CH471127;L05148;NG_007727;NM_001079;NM_207519;XM_005264015;XM_006712728;XM_006712729 AAH39039;AAH53878;AAX93187;BAC43747;BAG64404;EAX01918;EAX01919;NP_001070;NP_997402;P43403;XP_005264072;XP_006712791;XP_006712792 Hs.234569 FLJ17670;FLJ17679;SRK;STCD;STD;TZK;ZAP-70 70 kDa zeta-associated protein;70 kDa zeta-chain associated protein;OTTHUMP00000203013;OTTHUMP00000216626;syk-related tyrosine kinase;tyrosine-protein kinase ZAP-70;zeta-chain associated protein kinase, 70kD APPROVED protein-coding ENSG00000115085 HGNC:12858 01495 176947;269840 REVIEWED 1348309 ZBED2 zinc finger, BED-type containing 2 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; arachidonic acid; fonofos 3 3 3 q13.2 109711433 109713852 - 111311747 111314182 - 111592900 111595335 - 1580863;6480464;8554872 12477932;15489334;16341674;21906983;21988832;23533661 79413 Q9BTP6 ABBA01061670;AC055748;AMYH02007430;BC003536;BC071956;BE740032;BM847001;CH471052;CV575511;D78844;NG_012156;NM_024508 AAH03536;AAH71956;EAW79699;EAW79700;NP_078784;Q9BTP6 Hs.136912 MGC10796 OTTHUMP00000082693;zinc finger BED domain-containing protein 2;zinc finger, BED domain containing 2 protein-coding ENSG00000177494 HGNC:20710 15686 615246 VALIDATED 1348579 ZBED1 zinc finger, BED-type containing 1 This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It was earlier identified as a gene with similarity to Ac transposable elements, however, was found not to have transposase activity. Later studies show that this gene product is localized in the nucleus and functions as a transcription factor. It binds to DNA elements found in the promoter regions of several genes related to cell proliferation, such as histone H1, hence may have a role in regulating genes related to cell proliferation. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene. [provided by RefSeq, Jan 2010] X X;Y X;Y p22.33;Yp11 6684174 6699189 - 2354455 2369008 - 2486414 2500967 - 6480464 12477932;12663651;15489334;16189514;16344560;16713569;17209048;17220279;19394292;19447967;19471022;21139048;21693764;21890473;21900206;21963094;22021382;22939629;23533661;24722188;8889548;9872452;9887332 9189 C9JXP4;O96006 AB018328;ABBA01038598;AC079176;AMYH02038710;BC015030;BM980254;CH471074;DA625185;NG_016364;NM_001171135;NM_001171136;NM_004729;Y16947;Y17156 AAH15030;ABM84566;ABM86530;BAA34505;CAA76545;CAA76660;EAW98691;EAW98692;NP_001164606;NP_001164607;NP_004720;O96006 Hs.131452 1679842;1702108;1702890;2188081;2188085;5017881;5020274;7187872 DXYS102;G66046;G66048;L18441;RH38668;UniSTS:99122;ZBED1 ALTE;DREF;KIAA0785;TRAMP;hDREF Ac-like transposable element;BED-type zinc finger domain-containing protein 1;DNA replication-related element binding factor;OTTHUMP00000022839;OTTHUMP00000070388;OTTHUMP00000214863;dREF homolog;putative Ac-like transposable element;putative Ac-like transposon;zinc finger BED domain-containing protein 1;zinc finger, bed domain containing 1 APPROVED protein-coding ENSG00000214717 HGNC:447 02170 300178 REVIEWED 1320128 ZBED3 zinc finger, BED-type containing 3 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN negative regulation of protein phosphorylation (ortholog); positive regulation of canonical Wnt signaling pathway (ortholog); positive regulation of transcription from RNA polymerase II promoter (ortholog); FOUND IN cytosol (ortholog); membrane (ortholog); INTERACTS WITH aflatoxin B1; amiodarone; atrazine 5 5 5 q13.3 72266829 72277326 - 76372532 76383030 - 77076707 77087205 - 1580863;6480464 12477932;15489334;19141611;19322201;20581827;20889853;23533661;24283382;8125298 84327 D6RIC4;Q96IU2 ABBA01061977;ABBA01061978;AC008581;AK223624;AMYH02011613;BC007239;CH471084;NM_032367 AAH07239;BAD97344;EAW95790;EAW95791;NP_115743;Q96IU2 Hs.584988 MGC15435 2610005H11Rik;OTTHUMP00000128326;OTTHUMP00000222091;axin-interacting protein;zinc finger BED domain-containing protein 3;zinc finger, BED domain containing 3 protein-coding HGNC:20711 15687 615250 PROVISIONAL 6770267 ZBED3-AS1 ZBED3 antisense RNA 1 5 5 5 q13.3 72276919 72338418 + 76382623 76444176 + 77086798 77148351 + 12477932;14702039;16344560;20581827 728723 ABBA01061978;ABBA01061979;AC008581;AK055144;AK311179;AMYH02011613;AMYH02011614;BC026963;BF111934;CX786597;DA293448;HG498099;HG498102;HG498104;HG498105;NR_024398 Hs.161338 1680232;1785262;2130570 L28304;RH93132;SHGC-106188 APPROVED ncrna HGNC:44188 VALIDATED 1314283 ZBED4 zinc finger, BED-type containing 4 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); protein dimerization activity (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; aflatoxin B1 22 22 22 q13.33 34169009 34205150 + 50247497 50283726 + 49853849 49890078 + 1580863;6480464;8554872 10591208;12477932;15461802;17209048;18029348;19369242;19693800;20238005;22939624;23022380;23533661;24250222;9734811 9889 O75132 AA809789;AB014537;ABBA01031321;ABBA01031322;ABBA01031323;ABBA01031324;AL117328;AMYH02038585;AMYH02038586;AMYH02038587;AMYH02038588;BC117670;BC117671;BC167155;CH471138;CR456387;DB457646;NM_014838;XM_005261875 AAI17671;AAI67155;BAA31612;CAG30273;CAK54377;CAK54676;EAW73479;NP_055653;O75132;XP_005261932 Hs.475208 1688965;1712332;1849270 A004G14;G54075;RH80531 OTTHUMP00000196971;zinc finger BED domain-containing protein 4;zinc finger, BED domain containing 4 protein-coding ENSG00000100426 HGNC:20721 11692 612552 VALIDATED 7245734 ZBED5-AS1 ZBED5 antisense RNA 1 11 11 11 p15.3 11001430 11022491 + 10878383 10900823 + 10858217 10879276 + 729013 ABBA01061153;AC069360;AMYH02024329;BC014360;BC036635;BG618678;HG503531;KF455323;NR_034137 Hs.726427 1666411;1677516;2169124 RH99141;STS-R86769;WI-14576 ncrna ENSG00000247271 HGNC:48646 VALIDATED 1603615 ZBED5 zinc finger, BED-type containing 5 This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009] 11 11 11 p15.3 10995917 11001286 - 10874251 10879620 - 10852704 10858073 - 6480464;8554872 10607616;12477932;14702039;15231748;16344560;18976975;20379614;20877624;23166581;23533661 58486 E9PJ57;E9PJT5;E9PM71;E9PNT1;Q49AG3 ABBA01061153;AC069360;AF205600;AF205601;AK022942;AK025407;AK025829;AK123233;AK126323;AK315033;AL137577;AMYH02024329;BC017803;BC026354;BC038508;BC047754;BQ028130;CH471064;DA059122;DA785416;DB100756;NM_001143667;NM_021211 AAF18454;AAF18455;AAH17803;AAH47754;BAG37518;BAG51140;CAB70820;EAW68550;NP_001137139;NP_067034;Q49AG3 Hs.655066;Hs.728118 1852142;2167824;2169124 D11S2306E;RH18452;WI-14576 Buster1;FLJ41239 OTTHUMP00000197107;OTTHUMP00000231034;OTTHUMP00000231035;OTTHUMP00000231038;transposon-derived Buster1 transposase-like protein;zinc finger BED domain-containing protein 5 APPROVED protein-coding ENSG00000236287 HGNC:30803 17429 615251 REVIEWED 3322020 ZBED6 zinc finger, BED-type containing 6 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); protein dimerization activity (inferred); INVOLVED IN negative regulation of transcription, DNA-templated (ortholog); FOUND IN nucleolus (ortholog); nucleus (ortholog); INTERACTS WITH valproic acid; phenobarbital (ortholog) 1 1 1 q32.1 176897113 176900052 + 203766651 203769590 + 203797523 203800462 + 6480464 16710414;20016685;20134481;20375320;23533661 100381270 P86452 ABBA01027469;AC114402;AMYH02002518;NM_001174108 NP_001167579;P86452 Hs.716666 1670697;1687109;1697896;1856908;2125797 AL009827;AL010093;RH102476;RH99217;SHGC-57057 MGR OTTHUMP00000243760;zinc finger BED domain-containing protein 6;zinc finger, BED domain containing 6 protein-coding HGNC:33273 613512 PROVISIONAL 1606516 ZBED8 zinc finger, BED-type containing 8 ENCODES a protein that exhibits nucleic acid binding (inferred); FOUND IN mitochondrion (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; benzo[a]pyrene 5 5 5 q33.3 155852618 155859521 - 159820155 159827060 - 160393148 160400053 - 6480464 10607616;12477932;21890473;21900206;23533661;23643386;24250222 63920 Q8IZ13 AA728782;ABBA01044219;AC091842;AF205598;AK026754;AMYH02012605;BC032603;BC112128;BC112130;BM457021;BM903536;BQ959342;CH471062;NM_022090;XM_005265958 AAF18452;AAH32603;AAI12129;AAI12131;BAB15542;EAW61557;EAW61558;EAW61559;EAW61560;NP_071373;Q8IZ13;XP_005266015 Hs.529464 1644181;1646299;1691218 A007J26;D5S2666;RH93457 Buster3;C5orf54 OTTHUMP00000224268;transposon-derived Buster3 transposase-like protein;zinc finger BED domain-containing protein 8 APPROVED protein-coding ENSG00000221886 HGNC:30804 17430 615253 VALIDATED 1312837 ZAN zonadhesin This gene encodes a protein that functions in the species specificity of sperm adhesion to the egg zona pellucida. The encoded protein is located in the acrosome and may be involved in signaling or gamete recognition. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2014] 7 7 7 q22 95061816 95125973 + 100331249 100395419 + 100733626 100797797 + 1580863;6480464;8554872 11239002;14759258;15927490;16185823;17031461;17033959;17348940;18649290;19724880;19794156;19862010;19913121;20628086;21602212;9126492;9799793 7455 B4DYT6;F5GX59;F5GZI5;F5H0T8;F5H4B5;Q9Y493 ABBA01013181;ABBA01013182;ABBA01013183;ABBA01013184;ABBA01013185;ABBA01013186;ABBA01013187;ABBA01013188;ABBA01231129;AC009488;AC011895;AF312032;AF332975;AF332976;AF332977;AF332978;AF332979;AF332980;AK302596;AMYH02016388;AMYH02016389;AMYH02016390;AMYH02016391;AY046055;CH471091;KF570250;NG_029544;NM_003386;NM_173059;NR_111917;NR_111918;NR_111919;U83191 AAC51208;AAK01431;AAK01432;AAK01433;AAK01434;AAK01435;AAK01436;AAK21011;AAL04410;AAL04411;AAL04412;AAL04413;AAL04414;AAL04415;BAG63848;EAW76487;EAW76488;EAW76489;EAW76490;EAW76491;EAW76492;NP_003377;NP_775082;Q9Y493 Hs.307004 1770161 GDB:1317242 OTTHUMP00000211358;OTTHUMP00000211359;OTTHUMP00000211360;OTTHUMP00000211361;OTTHUMP00000211362;OTTHUMP00000211363 APPROVED protein-coding ENSG00000146839 HGNC:12857 03846 602372 REVIEWED 1351610 ZBED9 zinc finger, BED-type containing 9 ENCODES a protein that exhibits nucleic acid binding (inferred); protein dimerization activity (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN DNA integration (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene 6 6 6 p22.1 30145800 30161506 - 28539407 28555112 - 28571630 28587335 - 6480464;8554872 11076863;11230166;11572484;12477932;14574404;14702039;15489334;15489336;16381901;18029348;23533661;23550032 114821 Q6R2W3 AB067512;ABBA01038022;ABBA01038023;AK056369;AL049543;AL671879;AL713690;AL832486;AMYH02013396;AY517631;BC110834;BC111741;BC111742;BX647791;CH471081;NM_052923;XM_006725471 AAI10835;AAI11742;AAI11743;AAS01734;BAB67818;BAB71166;CAD28490;CAL37757;CAL38739;EAX03170;NP_443155;Q6R2W3;XP_006725534 Hs.176980 1677578 RH93273 Buster4;DKFZp434N092;FLJ31087;KIAA1925;MGC131782;MGC133310;MGC133311;SCAND3;ZFP38-L;ZNF305P2;ZNF452;dJ1186N24.3 OTTHUMP00000017861;SCAN domain containing 3;SCAN domain-containing protein 3;dJ1186N24.3 (novel zinc finger protein);transposon-derived Buster4 transposase-like protein;zinc finger BED domain-containing protein 9;zinc finger protein 305 pseudogene 2;zinc finger protein 452 APPROVED protein-coding ENSG00000232040 HGNC:13851 11720 615254 PROVISIONAL 1343689 ZBTB1 zinc finger and BTB domain containing 1 ENCODES a protein that exhibits protein heterodimerization activity; protein homodimerization activity; INVOLVED IN mRNA transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; protein homooligomerization; ASSOCIATED WITH Melanoma (inferred); FOUND IN nuclear body; nucleoplasm; nucleus; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 3,4-dichloroaniline 14 14 14 q23.3 45029022 45058137 + 64971292 65000408 + 64504574 64533690 + 1580863;6480464;8554872 10231032;12477932;15146197;15175327;15334068;15489334;19762545;20211142;20797634;21693764;21706167;21963094;23000965;24657165;24722188;8889548 22890 G3V2I8;G3V3N0;G3V447;Q9Y2K1 AB023214;ABBA01018363;AK291743;AL049869;AMYH02029358;AMYH02029359;AW965994;AY598321;BC050719;BM975910;BX248777;BX537646;CH471061;CN362091;NM_001123329;NM_014950;XM_005267410;XM_005267411 AAH50719;AAT06732;ABZ92308;BAA76841;BAF84432;CAD66584;EAW80863;NP_001116801;NP_055765;Q9Y2K1;XP_005267467;XP_005267468 Hs.605143 1646635;1653678;1660598;1668876;1676954;2186830;5021939 A007C14;AF005211;D14S1194;D14S1339;RH94359;STS-AA019734;Zbtb1 KIAA0997;ZNF909 OTTHUMP00000245237;zinc finger and BTB domain-containing protein 1 protein-coding ENSG00000126804 HGNC:20259 15688 VALIDATED 1317955 ZBTB11 zinc finger and BTB domain containing 11 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 3 3 3 q12.3 99761387 99789095 - 101368283 101395988 - 101649439 101677144 - 1580863;6480464;8554872 12477932;14702039;15231748;16344560;18029348;18781797;21139048;21906983;21987572;22321011;22505724;22586326;24778252;24816145 27107 C9J2L2;O95625;Q59H97 AB208862;ABBA01061772;AC084198;AI636025;AK023488;AK312859;AMYH02007317;BC028062;BC029342;BC111700;CH471052;DA907277;NM_014415;U69274 AAD00172;AAI11701;BAD92099;BAG35711;BAG51200;EAW79786;NP_055230;O95625 Hs.655286;Hs.743292 1666804;2158938 SGC38178;SHGC-77155 FLJ13426;MGC133303;ZNF-U69274;ZNF913 OTTHUMP00000214139;zinc finger and BTB domain-containing protein 11 protein-coding ENSG00000066422 HGNC:16740 15690 VALIDATED 1321295 ZBED6CL ZBED6 C-terminal like ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; cyclosporin A 7 7 7 q36.1 144584028 144586900 + 150026938 150029810 + 150329849 150332721 + 6480464;8554872 12477932;12690205;12853948;15489334;17207965;21988832;23533661 113763 Q96FA7 AACC02000108;ABBA01035192;AC005586;AL832660;AMYH02017057;BC011406;CH471173;NM_138434 AAH11406;AAP21891;ADQ31596;EAL24471;EAW54126;NP_612443;Q96FA7 Hs.655915 C7orf29 OTTHUMP00000212805;ZBED6 C-terminal-like protein;hypothetical protein LOC113763;uncharacterized protein C7orf29 APPROVED protein-coding ENSG00000188707 HGNC:21720 12917 615252 VALIDATED 1348951 ZBTB10 zinc finger and BTB domain containing 10 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one 8 8 8 q13-q21.1 77403411 77439573 + 81397854 81438500 + 80485619 80526265 + 737633;6480464 12477932 14702039;15489334;18029348;19471022;20382698;21145461;21693764;21890473;22197932;22493691;22829776;22895009;22939629;22990118;23000965;23254909;23471840;23667531;23817569;24035498;24239288;24388013 65986 Q96DT7;Q9H9H3 ABBA01004061;AC009812;AI627858;AJ319673;AJ507398;AK022814;AK056913;AMYH02018304;AMYH02018305;BC050061;BC127097;BC127098;BC148254;CA865977;CH471068;NM_001105539;NM_001277145;NM_023929;XM_005251287 AAH50061;AAI27099;AAI48255;BAB14256;BAB71309;CAC40989;CAD45447;EAW87075;EAW87076;EAW87077;EAW87078;EAW87079;NP_001099009;NP_001264074;NP_076418;Q96DT7;XP_005251344 Hs.591868 1651990;1697444;1714921;2162689;2187375;2218652 RH102223;RH11916;RH120455;RH68928;RH78774;ZBTB10__4922 FLJ12752;RINZF OTTHUMP00000207119;OTTHUMP00000226939;OTTHUMP00000226940;OTTHUMP00000226941;zinc finger and BTB domain-containing protein 10;zinc finger protein RIN ZF;zinc finger protein RINZF protein-coding ENSG00000205189 HGNC:30953 15689 VALIDATED 7249450 ZBTB11-AS1 ZBTB11 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 3 3 3 q12.3 99788381 99791168 + 101395274 101398061 + 101676430 101679217 + 8554872 11181995;12477932;14702039;15489334 100009676 ABBA01061772;AC084198;AK022880;AMYH02007317;BC003066;BC016930;CH471052;NR_024407 EAW79785 Hs.743292 2154404;5021872 D8S2078;sY3084 ncrna ENSG00000256628 HGNC:48573 VALIDATED 1342499 ZBTB12 zinc finger and BTB domain containing 12 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; ciguatoxin CTX1B (ortholog); paracetamol (ortholog) 6 6 6 p21.33 33465978 33468353 - 31867394 31869769 - 31899617 31901992 - 1300397;1580863;6480464 9545376 12477932;14574404;14656967;15489334;21764829;22566634;23079975;23263863;8939933 221527 Q9Y330 ABBA01038093;ABBA01038094;AF134726;AL662834;AL671762;AL844853;AMYH02013456;BA000025;BC043609;CH471081;CR388219;CR759784;NM_181842 AAD21810;AAH43609;BAB63293;EAX03545;EAX03546;EAX03547;NP_862825;Q9Y330 Hs.234027 Bat9;C6orf46;D6S59E;G10;NG35 HLA-B-associated transcript 9;OTTHUMP00000029235;zinc finger and BTB domain-containing protein 12 protein-coding ENSG00000204366 HGNC:19066 15691 VALIDATED 1352454 ZBTB16 zinc finger and BTB domain containing 16 This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 11 11 11 q23.1 111083317 111274300 + 113930289 114126702 + 114059567 114250676 + 1599922;1580863;2312786;6480464;6907045;7240710;5133679;8554872;8699517 19191224;20889352;8387545 10433962;10497277;10500192;10537309;10572087;10688654;10791968;11090081;11106752;11161217;11175338;11719366;11865059;11920278;11929873;11964310;12004059;12145280;12242665;12408802;12460926;12477932;12590135;12802276;12821938;12970399;14521715;14527952;14597771;14645547;14657020;14702039;14982881;15065091;15077196;15196694;15219838;15231748;15467736;15489334;15623533;15949438;15964811;15968309;16024608;16169070;16189514;16637071;16676348;16828757;17082479;17118363;17340613;17498654;17515885;17537403;17881917;18000064;18029348;18262754;18348865;18417445;18448589;18568019;18611983;18703361;18771349;18846501;19421145;19444914;19451220;19648967;19723763;19762545;19796243;19855079;19913121;20010871;20038602;20098615;20211142;20379614;20628086;20945532;21547890;21632718;21900206;21915328;21988832;22292015;22555178;23088713;23223428;23280881;23333304;23416030;23804241;23898169;24348178;24359566;24416448;24764561;24821727;24821728;8384553;8541544;8622986;8889548;9256429;9294197;9486654;9531570;9627120;9765306;9770450 7704 F5H5Y7;F5H6C3;H0YGW2;Q05516 AB208916;ABBA01039773;ABBA01039774;AF060568;AF076613;AF076615;AF076616;AK126422;AMYH02025597;AMYH02025598;AMYH02025599;AP000908;AP002518;AP002755;BC026902;BC029812;BM969145;BX648973;CH471065;NG_012140;NM_001018011;NM_006006;S60093;XM_005271658;XM_006718899;Z19002 AAC32847;AAC32848;AAC32849;AAC60590;AAD03619;AAH26902;AAH29812;ABZ92254;BAD92153;CAA79489;EAW67241;EAW67242;NP_001018011;NP_005997;Q05516;XP_005271715;XP_006718962 Hs.591945;Hs.682144 1337886;1646917;1654082;1659325;1702102;1702266;1706436;1733726;1737689;1737859;1767790;2108649;2133784;2152610;2186413;5015881;5494120 A008C32;D11S1104;D11S1191;D11S1792;D11S2076;D11S3293;D11S3462;D11S4022;GDB:335751;RH16530;SHGC-33207;SHGC-80797;UniSTS:99119;UniSTS:99223;ZBTB16_8745;ZNF145;fj34c06.x1 PLZF;ZNF145 OTTHUMP00000238379;OTTHUMP00000238382;promyelocytic leukaemia zinc finger;zinc finger and BTB domain-containing protein 16;zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia);zinc finger protein PLZF APPROVED protein-coding ENSG00000109906 HGNC:12930 11762 176797;612447 REVIEWED 1346592 ZBTB18 zinc finger and BTB domain containing 18 This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 1 q44 217504910 217511127 + 244212241 244220778 + 244048939 244057476 + 1580863;6480464;8699517;7240710;8554872 10721697;11350943;12477932;15146197;15489334;16710414;19322201;20059953;20103640;20936779;21139048;21988832;22095278;24035498;24722188;7566098;7633419;9013868;9568537;9756912;9770450 10472 Q99592 ABBA01047204;AJ001388;AJ223321;AK291408;AK293892;AL050055;AL590483;AMYH02003078;BC036677;BC078175;CH471148;CN409673;DC377579;NG_033841;NM_001278196;NM_006352;NM_205768;U38896;W68199;X95072;XM_005273006 AAA81368;AAH36677;BAF84097;BAG57281;CAA04718;CAA11262;CAA64468;EAW77097;EAW77098;EAW77099;NP_001265125;NP_006343;NP_991331;Q99592;XP_005273063 Hs.69997 1667325;1735964;1774372;2127212;5019339 D1S1950E;MARC_9941-9942:996688685:2;RH104472;RH16021;SHGC-76612 C2H2-171;MRD22;RP58;TAZ-1;ZNF238 58 kDa repressor protein;OTTHUMP00000037918;transcriptional repressor RP58;translin-associated zinc finger protein 1;zinc finger and BTB domain-containing protein 18;zinc finger protein 238;zinc finger protein C2H2-171 APPROVED protein-coding ENSG00000179456 HGNC:13030 12231 608433;612337 REVIEWED 1345499 ZBTB14 zinc finger and BTB domain containing 14 ENCODES a protein that exhibits sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; INVOLVED IN negative regulation of transcription, DNA-templated; FOUND IN nucleus; INTERACTS WITH (-)-demecolcine; cobalt dichloride; formaldehyde 18 18 18 p11.31 5173448 5180808 - 5289018 5297052 - 5289019 5297053 - 727770;1580863;6480464 9244432 10049742;10080939;12183049;12477932;14706637;15489334;15629158;15639979;16344560;16805315;17714511;19121354;19299493;19322201;20141036;21880590;21890473;23000965;24250222;8367294;9177479 7541 B2R850;J3KRQ2;J3QL74;J3QLI2;O43829 ABBA01049876;ABBA01049877;AK313236;AMYH02034241;AMYH02034242;AMYH02034243;AP001496;AW338628;BC057282;BC110519;BI561601;CH471113;CQ834630;CQ859724;D89859;DA817685;DB442630;NM_001143823;NM_001243702;NM_001243704;NM_003409;Y12726 AAI10520;ABZ92244;BAA20131;BAG36047;CAA73258;CAH05530;CAH25912;EAX01647;NP_001137295;NP_001230631;NP_001230633;NP_003400;O43829 Hs.592340 1674193;1775268;2131753;2218664 SHGC-56450;WI-11323;WI-11324;ZFP161__4941 MGC126126;ZF5;ZFP-161;ZFP-5;ZFP161;ZNF478;hZF5 OTTHUMP00000162301;ZFP161 zinc finger protein;zinc finger and BTB domain-containing protein 14;zinc finger protein 161 homolog;zinc finger protein 478;zinc finger protein 5 homolog;zinc finger protein homologous to Zfp161 in mouse APPROVED protein-coding ENSG00000198081 HGNC:12860 03674 602126 VALIDATED 1315344 ZBTB2 zinc finger and BTB domain containing 2 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 4-phenylbutyric acid; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 6 6 6 q25.1 152419132 152446560 - 151685250 151712677 - 151364115 151391542 - 1580863;6480464;8554872 10819331;12477932;14574404;14702039;15489334;16051665;18187620;19322201;19380588;19394292;19471022;19615732;20211142;21139048;21540461;21693764;23022380;23752268;24250222;24607898;24654937;24657165;25027693 57621 Q658W5;Q8N680 AB040916;ABBA01025640;ABBA01025641;AJ420526;AK092886;AK291942;AL590413;AL832957;AMYH02014723;BC020172;CH471051;NM_020861;XM_005267076;XM_005267078 AAH20172;ABZ92365;BAA96007;BAF84631;CAH56321;EAW47751;EAW47752;NP_065912;Q8N680;XP_005267133;XP_005267135 Hs.520073 1767895;1785910 RH36531;SHGC-142005 ZNF437 OTTHUMP00000017428;zinc finger and BTB domain-containing protein 2 protein-coding ENSG00000181472 HGNC:20868 10314 PROVISIONAL 1347626 ZBTB17 zinc finger and BTB domain containing 17 This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008] 1 1 1 p36.13 14748238 14782515 - 16268364 16302627 - 15941869 15976132 - 1580863;6480464;6907045 11068878;11117529;11283613;11545736;12193603;12244100;12408820;12477932;12545156;12840021;12904288;14739298;1505991;15095404;15231747;15489334;15616584;15752756;15856024;16167342;16344560;16352593;16537485;16710414;17006541;17050536;17082179;17418410;17880999;17947461;18923429;19160485;19164764;19419955;1946370;19549844;19786833;19815509;19901969;20308430;20426839;20493880;20697356;21459883;21906983;21908575;22099967;22184250;22939624;23570452;24250222;24296348;24618291;24816145;7557990;8125298;9256341;9308237;9312026 7709 H0Y6X2;H7C1K8;Q13105;Q53EM1 ABBA01004687;AK223618;AK226168;AK294796;AK299820;AK301896;AK302610;AK303823;AK309081;AK311083;AK315201;AL034555;AL355994;AMYH02000375;BC126163;BC143965;BC143968;BQ575263;BU634371;CH471167;DB064089;M88369;NM_001242884;NM_001287603;NM_001287604;NM_003443;U20647;XM_005245986;XM_005245987;Y09723 AAA61327;AAC50256;AAI26164;AAI43966;BAD97338;BAG37639;BAG57917;BAG61689;BAG63326;BAG63857;BAG64771;CAA70889;EAW51757;EAW51758;NP_001229813;NP_001274532;NP_001274533;NP_003434;Q13105;XP_005246043;XP_005246044 Hs.433764 1660859;1732940;2108651;2171623;2171625;2172255;2186068;5020913 A005O01;D1S1336;RH64190;RH70580;SHGC-31102;SHGC-74246;STS-AA013259;ZBTB17_8746 MIZ-1;ZNF151;ZNF60;pHZ-67 Myc-interacting Zn finger protein-1;OTTHUMP00000010985;myc-interacting zinc finger protein 1;zinc finger and BTB domain-containing protein 17;zinc finger protein 151 (pHZ-67);zinc finger protein 60 APPROVED protein-coding ENSG00000116809 HGNC:12936 04968 604084 VALIDATED 1351033 ZBP1 Z-DNA binding protein 1 This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 20 20 20 q13.31 52919278 52936016 - 56178902 56195632 - 57603846 57620576 - 632620;1580863;6480464 11842111 10364558;11524677;11780052;12477932;14702039;15489334;16344560;16448869;17618271;18771559;18941233;19095800;19158679;19461076;19590578;19668339;19846511;20237496;20599623;21296080;21471454;21903422;22114317;22240322;23149075;23283962;23553627;24080302 81030 H0Y6D1;Q9H171 ABBA01052931;AI659939;AI925506;AJ300575;AK122761;AK128405;AK290918;AK314062;AL035541;AMYH02037355;AX775973;AX775975;BC028218;BC131706;BF511589;CH471077;CT002036;DA674238;DA676308;DB331848;NG_031836;NM_001160417;NM_001160418;NM_001160419;NM_030776;XM_006723878 AAH28218;AAI31707;BAF83607;BAG53713;CAC18810;CAE11686;CAE11687;EAW75509;EAW75510;EAW75511;EAW75512;EAW75513;NP_001153889;NP_001153890;NP_001153891;NP_110403;Q9H171;XP_006723941 Hs.302123 5014051;5015881 D8S2278;GDB:335751 C20orf183;DAI;DLM-1;DLM1 DNA-dependent activator of IFN-regulatory factors;DNA-dependent activator of IRFs;DNA-dependent activator of interferon regulatory factors;OTTHUMP00000031373;OTTHUMP00000174290;OTTHUMP00000237854;Z-DNA-binding protein 1;tumor stroma and activated macrophage protein DLM-1 APPROVED protein-coding ENSG00000124256 HGNC:16176 09484 606750 REVIEWED 5144697 ZBTB20-AS2 ZBTB20 antisense RNA 2 3 3 112810764 112813806 + 114403427 114406469 + 100506673 XR_108468;XR_112531 APPROVED ncrna HGNC:42421 6481224 ZBTB20-AS4 ZBTB20 antisense RNA 4 q13.31 16344560 100874131 AC069063;DA196340;DA301952;NR_046877 APPROVED ncrna HGNC:42423 VALIDATED 4109588 ZBTB12P1 zinc finger and BTB domain containing 12 pseudogene 1 4 4 p14 39771381 39773241 - 39769761 39771621 - 9847074 100499252 ABBA01004135;AC105287;AMYH02009059;NG_023432 ZBTB12B;ZNF920 zinc finger and BTB domain containing 12B;zinc finger and BTB domain containing 12B, pseudogene APPROVED pseudo HGNC:37702 INFERRED 1351632 ZBTB20 zinc finger and BTB domain containing 20 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Absent axillary hair (inferred); Absent facial hair (inferred); Aggressive behavior (inferred); FOUND IN nucleus; INTERACTS WITH 5-fluorouracil; aflatoxin B1; all-trans-retinoic acid 3 3 3 q13.2 112464305 113273740 - 114033348 114866132 - 114598694 114766108 - 1580863;6480464;8699517;8554872 10737800;10965110;11076863;11230166;11352661;12477932;14702039;15489336;16344560;16381901;18029348;19240061;19322201;19850283;19913121;19955470;20211142;20379614;20628086;21532573;21702992;22037551;22939624;23861218;8125298 26137 A8K251;B2RCW4;C9JCX0;C9JUH0;Q9HC78 ABBA01061631;ABBA01061632;ABBA01061633;ABBA01061634;ABBA01061635;ABBA01061636;ABBA01061637;ABBA01061638;AC055739;AC069063;AC069506;AC078986;AC083886;AC092915;AC093010;AC131152;AC138977;AF139460;AK001020;AK022228;AK023302;AK091904;AK129968;AK225788;AK290116;AK315307;AL049423;AL050276;AMYH02007457;AMYH02007458;AMYH02007459;AMYH02007460;AMYH02007461;AMYH02007462;AMYH02007463;BC010934;BC015587;BC016962;BC029041;BC035518;BC090936;BF327758;BG993862;BX647778;BX648237;CB164748;CH471052;DA120543;DB131355;DB268190;HG495949;NM_001164342;NM_001164343;NM_001164344;NM_001164345;NM_001164346;NM_001164347;NM_015642;NR_121662;XM_005247339;XM_005247340;XM_005247341;XM_005247342;XM_005247343;XM_006713577;XM_006713578;XM_006713579;XM_006713580;XM_006713581;XM_006713833 AAG28340;AAH29041;ABZ92319;BAF82805;BAG37711;CAB43377;CAH56190;CAL37476;EAW79598;NP_001157814;NP_001157815;NP_001157816;NP_001157817;NP_001157818;NP_001157819;NP_056457;Q9HC78;XP_005247396;XP_005247397;XP_005247398;XP_005247399;XP_005247400;XP_006713640;XP_006713641;XP_006713642;XP_006713643;XP_006713644;XP_006713896 Hs.202577;Hs.592414;Hs.655108;Hs.661491;Hs.732516;Hs.744879 1336391;1336883;1337086;1340326;1648314;1654968;1659561;1664763;1665929;1666551;1669322;1673821;1674912;1676698;1716195;1724095;1724633;1735080;1750877;1752179;1757737;1758773;1759709;1784760;2110051;2122179;2122848;2127357;2139088;2151930;2158738;2162390;2164698;2178442;2180910;5093900;7183998 044XB2;A009Y32;D3S1310;D3S1518;D3S2767E;D3S3421;D3S3526;D3S3665;D3S3984;G09418;G32990;L77282;RH118789;RH121121;RH121317;RH45320;RH66252;RH68645;RH70464;RH94381;SGC34980;SHGC-104625;SHGC-106103;SHGC-14186;SHGC-146401;SHGC-150762;SHGC-151001;SHGC-154562;SHGC-33762;SHGC-33976;SHGC-77220;STS-R45221;STS-R97981;WI-11302;WI-4825;ZBTB20_9462 DKFZp566F123;DPZF;FLJ26458;HOF;ODA-8S;PRIMS;RP11-553L6.5;ZNF288 BTB/POZ zinc finger protein DPZF;OTTHUMP00000215066;OTTHUMP00000215067;OTTHUMP00000215068;OTTHUMP00000215069;OTTHUMP00000215070;OTTHUMP00000215071;dendritic cell-derived BTB/POZ zinc finger;dendritic-derived BTB/POZ zinc finger protein;zinc finger and BTB domain-containing protein 20;zinc finger protein 288 protein-coding ENSG00000181722 HGNC:13503 05822 259050;606025 VALIDATED 1321974 ZBTB21 zinc finger and BTB domain containing 21 ENCODES a protein that exhibits methyl-CpG binding; INVOLVED IN negative regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; crocidolite asbestos 21 21 21 q22.3 28554479 28578036 - 43406940 43430496 - 41986831 42010387 - 1580863;6480464;8554872 10574462;10830953;12107410;12477932;15302935;15324660;15342556;15489334;15629158;17081983;19156129;19471022;20379614;21693764;24250222;24778252;25027693 49854 E7EVF9;Q5KS07;Q9ULJ3 AB033053;AB041014;AB041015;AB190372;AB190373;AB190374;ABBA01014179;AI291220;AK300291;AK308179;AL562200;AMYH02037870;AP001619;AP001620;AP001745;BC063290;BI767542;BM893936;BP230048;CA397608;CH471079;CR933655;NM_001098402;NM_001098403;NM_020727;XM_005261121;XM_005261123 AAH63290;BAA86541;BAA95529;BAD74063;BAD74064;BAD86526;BAD86527;BAD86528;BAG62048;CAI45954;EAX09579;EAX09580;EAX09581;NP_001091872;NP_001091873;NP_065778;Q9ULJ3;XP_005261178;XP_005261180 Hs.434947;Hs.618406 1653154;1688336;1730871;1775786;1791169;2110085;2120723;2153139 D21S1955;D21S399;G31145;RH93963;SGC44320;SHGC-51809;UniSTS:259175;ZNF295_9637 DKFZp781N1974;ZNF295 OTTHUMP00000109314;OTTHUMP00000109315;OTTHUMP00000109316;OTTHUMP00000109317;OTTHUMP00000109318;OTTHUMP00000109319;OTTHUMP00000109320;zinc finger and BTB domain-containing protein 21;zinc finger protein 295 APPROVED protein-coding ENSG00000173276 HGNC:13083 10328 VALIDATED 1352119 ZBTB22 zinc finger and BTB domain containing 22 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; atrazine 6 6 6 p21.3 34836547 34840085 - 33282182 33285719 - 33314405 33317942 - 1580863;6480464;8554872 12477932;14574404;14702039;15489334;16169070;16189514;16344560;19851445;20211142;21988832;9521053;9545376 9278 A2AB93;O15209 ABBA01038141;AK095978;AK315747;AL662820;AL662827;AMYH02013483;AMYH02013484;BC018541;BQ002626;BX248088;BX459194;CD369813;CH471081;CR759786;CR759817;DA625357;DA777388;NG_009876;NM_001145338;NM_005453;Z97183;Z97184 AAH18541;ADZ15588;BAG38101;BAG53184;CAB09990;EAX03721;NP_001138810;NP_005444;O15209 Hs.206770 2108673;2180771 RH37250;ZNF297_8921 BING1;ZBTB22A;ZNF297;ZNF297A;fru OTTHUMP00000029145;OTTHUMP00000178695;fruitless;zinc finger and BTB domain-containing protein 22;zinc finger and BTB domain-containing protein 22A;zinc finger protein 297 protein-coding ENSG00000236104 HGNC:13085 15761 611439 VALIDATED 1315856 ZBTB24 zinc finger and BTB domain containing 24 This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011] 6 6 6 q21 110530317 110551038 - 109783719 109804440 - 109462516 109483237 - 1580863;6480464;8699517;7240710;8554872 12168954;12477932;14574404;15489334;15840729;16189514;17353931;18391951;19060904;20881960;21596365;21906047;23455924;23486536;23739126;24175288;24250222;24778252;9455477 9841 O43167 AB007901;ABBA01026125;ABBA01026126;AK309697;AL109947;AMYH02014279;AMYH02014280;BC036731;BC117374;BC117376;BC143843;BX648883;CH471051;NG_029388;NM_001164313;NM_014797 AAH36731;AAI17375;AAI17377;ADR83233;BAA23713;EAW48338;NP_001157785;NP_055612;O43167 Hs.409876 1657980;2134401;2176659 RH46701;STS-N24789;WI-15119 BIF1;ICF2;PATZ2;ZNF450 Bax-interacting factor-1;OTTHUMP00000016968;POZ (BTB) and AT hook containing zinc finger 2;zinc finger and BTB domain-containing protein 24;zinc finger protein 450 APPROVED protein-coding ENSG00000112365 HGNC:21143 18315 614064;614069 REVIEWED 1318405 ZBTB26 zinc finger and BTB domain containing 26 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; coumestrol; cyclosporin A 9 9 9 q33.2 96328698 96342098 - 125677845 125693792 - 122918099 122931500 - 1580863;6480464;8554872 10997877;12477932;14702039;15489334;21988832 57684 Q9HCK0 AB046792;ABBA01043718;AC007066;AF323460;AK057445;AK058083;AMYH02021596;BC018748;CS300792;NM_020924 AAH18748;AAL55969;ABZ92366;BAB13398;BAG51915;CAK32456;NP_065975;Q9HCK0 Hs.5638 1790201;2171589;2173101 BE099743;G16510;RH69232 KIAA1572;ZNF481 OTTHUMP00000022072;bioref;zinc finger and BTB domain-containing protein 26;zinc finger protein 481;zinc finger protein 483;zinc finger protein Bioref protein-coding HGNC:23383 15692 PROVISIONAL 5144405 ZBTB20-AS1 ZBTB20 antisense RNA 1 3 3 3 q13.31 112478038 112515175 + 114070658 114107825 + 114351811 114388978 + 14702039;16344560 100131117 ABBA01061638;AC083886;AC131152;AK098660;AMYH02007457;BI831211;DB037313;DB047976;HG495950;HG495951;HG495952;HG495954;NR_038993 Hs.122417;Hs.745259 RP11-364F11.1 APPROVED ncrna ENSG00000241560 HGNC:40640 VALIDATED 1353634 ZBTB3 zinc finger and BTB domain containing 3 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; formaldehyde 11 11 11 q12.3 59847033 59850254 - 62518435 62521656 - 62750963 62754184 - 1580863;6480464 12477932;14702039;15231748;15489334;16344560;19322201;20211142;23824909 79842 E9PPE9;Q9H5J0 ABBA01003242;AK027045;AMYH02024898;AP001160;BC025249;CH471076;DA770074;NM_024784 AAH25249;ABM83768;ABW03537;BAB15636;EAW74088;EAW74089;NP_079060;Q9H5J0 Hs.147554 5014051;5015619;5020740;5020881;5022200;5037552 D11S3114;D8S2278;D8S2279;L17709;L17809;L18426 FLJ23392 OTTHUMP00000236337;zinc finger and BTB domain-containing protein 3 protein-coding ENSG00000185670 HGNC:22918 15693 VALIDATED 1604369 ZBTB32 zinc finger and BTB domain containing 32 ENCODES a protein that exhibits DNA binding (ortholog); zinc ion binding (ortholog); INVOLVED IN DNA repair (inferred); hemopoiesis (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nuclear chromosome (inferred); nucleoplasm (inferred); nucleus (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; arsenite(3-); ethyl methanesulfonate 19 19 19 q13.1 32917304 32921414 + 36195389 36207940 + 35704487 35717038 + 6480464;8554872 10544010;10572087;11964310;11986317;12477932;12821938;14499622;15489334;16189514;16713569;17171645;18082604;19447967;20147518;20211142;20493880;23088713;24722188;25011449 27033 K7EMJ1;Q9Y2Y4 ABBA01018760;AC002314;AD000671;AF130255;AF165097;AMYH02035988;BC017700;NM_014383;XM_005258739;XM_006723139;XR_430195 AAD27708;AAD48448;AAH17700;NP_055198;Q9Y2Y4;XP_005258796;XP_006723202 Hs.99430 2218130 TZFP_3812 FAXF;FAZF;Rog;TZFP;ZNF538 FANCC-interacting protein;OTTHUMP00000045790;fanconi anemia zinc finger protein;repressor of GATA;testis zinc finger protein;zinc finger and BTB domain-containing protein 32;zinc finger protein 538 protein-coding ENSG00000011590 HGNC:16763 12055 605859 PROVISIONAL 1353753 ZBTB34 zinc finger and BTB domain containing 34 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; cisplatin 9 9 9 q33.3 100275414 100302734 + 129622944 129648157 + 126860665 126885878 + 6480464 12056414;12477932;14702039;16718364;18029348 403341 Q8NCN2 AB082524;ABBA01043817;ABBA01043818;ABBA01043819;AK055661;AK074274;AL160169;AL354944;AMYH02021672;AMYH02021673;BC020929;BC035710;DQ227306;NM_001099270;XM_005251989 AAI60177;ABA86591;BAC02702;NP_001092740;Q8NCN2;XP_005252046 Hs.177633 1856667;2115499 D9S1771;WI-15601 FLJ22470;KIAA1993;MGC24652;RP11-106H5.1;ZNF918 OTTHUMP00000022158;zinc finger and BTB domain-containing protein 34 protein-coding ENSG00000177125 HGNC:31446 611692 VALIDATED 1351169 ZBTB33 zinc finger and BTB domain containing 33 This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-α2 (also known as karyopherin alpha2 or RAG cohort 1), which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, May 2010] X X X q23 119850192 119857836 + 119384607 119392251 + 120250752 120258396 + 6480464;8695954;8554872 23324617 10207085;11076863;11230166;11445535;11461664;12477932;14527417;14699141;14702039;15489334;15489336;15543138;15548582;15564377;15592455;15772651;15781635;15817151;15953356;16230345;16354688;16381901;16530985;18029348;18653469;18794111;19322201;19394292;19471022;19502788;19508730;19615732;19615783;20169156;20382170;20586187;21070476;21139048;21252943;21670201;21693764;21890473;21906983;21963094;21987572;22276175;22300642;22412018;22590627;22662240;22833212;22949637;22974583;23226276;23251453;23888785;24474278;24570268;25027693 10009 Q86T24 ABBA01049614;AC002086;AK092998;AK094230;AK312321;AL833604;AL833856;AMYH02040358;BC042753;BX538016;BX538101;CH471107;DB468333;NG_021334;NM_001184742;NM_006777 AAB54087;AAH42753;BAG35243;CAD38715;CAD91170;CAD97963;CAD98016;CAL38182;EAX11891;NP_001171671;NP_006768;Q86T24 Hs.143604 1648724;1675682;2122884;2187476 AL008944;RH47097;RH78409;SHGC-30611 ZNF-kaiso;ZNF348 OTTHUMP00000023933;OTTHUMP00000023935;OTTHUMP00000245265;WUGSC:H_DJ525N14.1;kaiso transcription factor;transcriptional regulator Kaiso;zinc finger and BTB domain-containing protein 33 APPROVED protein-coding ENSG00000177485 HGNC:16682 02269 300329 REVIEWED 1344853 ZBTB25 zinc finger and BTB domain containing 25 ENCODES a protein that exhibits DNA binding; INVOLVED IN gene expression; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH arsane; arsenic atom; bisphenol A 14 14 14 q23-q24 45011284 45028284 - 64916285 64970656 - 64449610 64504512 - 1580863;6480464;8554872 12477932;14702039;15489334;16189514;16713569;19394292;20211142;2027750;20410506;21906983;21988832 7597 G3V2K3;G3V351;P24278 ABBA01018363;AK098181;AK313889;AL049869;AL122035;AMYH02029358;BC035804;BM550005;CH471061;NM_006977;X16576;XM_005268049;XM_005268051;XM_005268052;XM_005268053;XM_006720250;XM_006720251;XM_006720252;XM_006720253 AAH35804;ABZ92441;ADZ15350;BAG53588;CAA34595;EAW80859;EAW80860;EAW80861;NP_008908;P24278;XP_005268106;XP_005268108;XP_005268109;XP_005268110;XP_006720313;XP_006720314;XP_006720315;XP_006720316 Hs.654571 2108677;5020988 D22S958;ZNF46_8738 C14orf51;KUP;ZNF46 OTTHUMP00000180662;OTTHUMP00000180663;zinc finger and BTB domain-containing protein 25;zinc finger protein 46;zinc finger protein KUP protein-coding HGNC:13112 01926 194541 VALIDATED 1352612 ZBTB37 zinc finger and BTB domain containing 37 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH clofibrate (ortholog); flutamide (ortholog); thioacetamide (ortholog) 1 1 1 q25.1 146946962 146965241 + 173837220 173856596 + 173868297 173887458 + 737633;6480464 12477932 14702039;15489334;16344560;16710414;18654987;19240061 84614 Q5TC79;Q8WYT0 ABBA01027895;ABBA01027896;AF318371;AK057310;AK302696;AL136170;AMYH02002157;BC003116;BC006315;CH471067;DA790498;DA796002;NM_001122770;NM_032522;XM_005245546;XM_005245547;XM_006711578;XM_006711579;XM_006711580 AAH03116;AAH06315;AAL55878;BAB71422;BAH13780;EAW90967;EAW90968;NP_001116242;NP_115911;Q5TC79;XP_005245603;XP_005245604;XP_006711641;XP_006711642;XP_006711643 Hs.668497 D430004I08Rik;MGC2629;ZNF908 OTTHUMP00000035388;OTTHUMP00000035389;OTTHUMP00000035391;zinc finger and BTB domain-containing protein 37 protein-coding ENSG00000185278 HGNC:28365 15694 PROVISIONAL 1605102 ZBTB39 zinc finger and BTB domain containing 39 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); benzo[a]pyrene (ortholog) 12 12 12 q13.3 57046548 57054160 - 57392617 57400297 - 56998833 57006513 - 6480464;8554872 12477932;19322201;21139048;9205841 9880 O15060 AB002350;ABBA01008446;AC026120;AK292468;AMYH02026577;BC140890;BC146867;BC152461;CH471054;NM_014830 AAI40891;AAI46868;AAI52462;BAA20809;BAF85157;EAW96971;NP_055645;O15060 Hs.591025 1676894;1857397 RH79858;WI-22389 KIAA0352;ZNF922 OTTHUMP00000244866;zinc finger and BTB domain-containing protein 39 protein-coding ENSG00000166860 HGNC:29014 13796 VALIDATED 6481061 ZBTB40-IT1 ZBTB40 intronic transcript 1 (non-protein coding) p36.12 10737800 100874345 AL035703;BF359992 Hs.677539 ncrna HGNC:41493 1316223 ZBTB4 zinc finger and BTB domain containing 4 ENCODES a protein that exhibits methyl-CpG binding; methyl-CpNpG binding; protein homodimerization activity; INVOLVED IN cellular response to DNA damage stimulus; negative regulation of transcription, DNA-templated; PARTICIPATES IN DNA modification pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene; benzo[a]pyrene 17 17 17 p13.1 7388636 7413835 - 7362685 7387568 - 7459366 7484249 - 737633;1580863;6480464;8695954;8554872 12477932;23324617 10819331;14702039;16344560;16354688;16751776;18451802;19448668;19471022;20085233;20403812;21693764;21765466;23251453;24250222;25027693 57659 B3KVD4;Q9P1Z0 AB040971;ABBA01054869;ABBA01054870;ABBA01054871;AC113189;AK027143;AK122826;AK122971;AMYH02032903;AMYH02032904;AMYH02032905;AY302699;BC015902;BC033259;BC043352;BC131774;CH471108;DA125392;NM_001128833;NM_020899;XM_006721563;XM_006721564 AAH33259;AAH43352;AAI31775;AAP59447;BAA96062;BAG53746;BAG53828;EAW90185;NP_001122305;NP_065950;Q9P1Z0;XP_006721626;XP_006721627 Hs.35096 1689550;1694780;1777169 G43606;RH44508;WI-21649 KAISO-L1;KIAA1538;ZNF903 KAISO-like zinc finger protein 1;OTTHUMP00000135276;zinc finger and BTB domain-containing protein 4 protein-coding ENSG00000174282 HGNC:23847 11693 612308 VALIDATED 1603531 ZBTB38 zinc finger and BTB domain containing 38 The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010] 3 3 3 q23 139466550 139592174 + 141043055 141168634 + 141324213 141449792 + 6480464;8695954 23324617 12477932;14702039;16344560;16354688;16641997;17081983;18029348;18193045;18391950;18391951;18391952;18851979;19266077;19343178;19389623;19396169;19893584;20189936;20546612;20846217;20881960;20966902;21188497;21743467;21906983;21998595;22210626;22379092;23251453;23302005;23563607 253461 D6R9I1;D6R9J6;D6R9U6;D6RAC4;D6RBC4;D6RC86;D6RE69;D6RGK1;D6RHD1;D6RJE1;J3KPK6;Q8NAP3;Q9H6F0 AA683353;ABBA01059048;AC010184;AC117383;AK025985;AK055693;AK092355;AK094201;AK302568;AK307452;AK311501;AL833148;AMYH02007802;BC008901;BC015444;BC022936;BC051734;BC072415;BC107745;CH471052;DA347543;DC420906;NG_021426;NM_001080412;XM_005247255;XM_005247256;XM_005247257;XM_005247258;XM_005247261;XM_005247262;XM_005247263;XM_006713559 AAI07746;AAI72286;BAB15309;BAB70986;BAC03868;BAG52843;BAG63830;EAW79004;EAW79005;NP_001073881;Q8NAP3;XP_005247312;XP_005247313;XP_005247314;XP_005247315;XP_005247318;XP_005247319;XP_005247320;XP_006713622 Hs.518301 1646063;1735246;1735346;1768309;1846747;1846793;1851791;1853475;2151217 A006U06;D3S2830E;D3S2911E;D3S2965E;D3S3106;RH65567;SHGC-58314;STS-D60661;WI-17024 CIBZ;FLJ22332;FLJ31131;FLJ35036;PPP1R171;ZNF921 OTTHUMP00000217600;OTTHUMP00000217601;OTTHUMP00000217602;OTTHUMP00000217603;OTTHUMP00000217654;OTTHUMP00000217655;OTTHUMP00000217656;OTTHUMP00000217657;OTTHUMP00000217658;OTTHUMP00000217659;OTTHUMP00000217660;zinc finger and BTB domain-containing protein 38 APPROVED protein-coding HGNC:26636 612218 REVIEWED 1604838 ZBTB40 zinc finger and BTB domain containing 40 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN cellular response to DNA damage stimulus; FOUND IN nucleus; INTERACTS WITH atrazine; copper(2+) sulfate; hydrogen peroxide 1 1 1 p36 21101713 21181052 + 22778344 22857650 + 22451851 22531157 + 6480464 10737800;12168954;12477932;14702039;15302935;16344560;16710414;17525332;18445777;19471022;19801982;20379614;20467438;20554715;21139048;21533022;22504420;22824048;23472165;24249740;9455484 9923 B1AKC8;B3KR52;F8WAI8;Q1RMZ5;Q9NUA8 AB007947;ABBA01059848;AK091019;AK095273;AK314747;AL035703;AL358788;AMYH02000474;AMYH02000475;AMYH02000476;BC114607;BF919358;CH471134;DA248977;DA326727;DA787818;NM_001083621;NM_014870 AAI14608;BAA32323;BAC04518;BAG37287;BAG52264;EAW95011;EAW95012;NP_001077090;NP_055685;Q9NUA8 Hs.418966 1689945;1692700;1698106;1719205;1732810;1852049;2129529;2183481;2191211;5022200;5037744 AL033956;D1S1261;D1S2179;D1S3694;L18426;MARC_16295-16296:1017412991:1;RH102585;RH123321;RH12833;RH80410;SHGC-56900 KIAA0478;MGC133098;ZNF923 OTTHUMP00000002942;zinc finger and BTB domain-containing protein 40 protein-coding ENSG00000184677 HGNC:29045 11086 612106 VALIDATED 2290506 ZBTB42 zinc finger and BTB domain containing 42 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus; nucleoplasm (ortholog); INTERACTS WITH benzene-1,2,4-triol; aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 14 14 14 q32.33 85322008 85326127 + 105266933 105271049 + 104800596 104804712 + 6480464 12477932;15489334;19913121;20628086;21193930;24097068 100128927 B2RXF5 ABBA01002983;ABBA01002984;ABBA01002985;AK125003;AL138144;AL590327;AMYH02029952;AX721091;BC157833;BC171822;NM_001137601 AAI57834;AAI71822;B2RXF5;NP_001131073 Hs.170853 1661930 RH78057 FLJ43013;MGC189728;ZNF925 OTTHUMP00000244404;zinc finger and BTB domain-containing protein 42 protein-coding HGNC:32550 613915 VALIDATED 1603485 ZBTB41 zinc finger and BTB domain containing 41 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; cyclosporin A 1 1 1 q31.3 170248322 170295159 - 197122814 197169672 - 197153684 197200542 - 6480464;8554872 10737800;12477932;14702039;16710414;19322201;21890473;23381943 360023 Q5SVQ8;Q8N9U5 ABBA01027596;AK128549;AL356315;AL627208;AMYH02002428;AW856335;AY163816;AY336933;BC043426;BC132818;BC136600;BX640886;CH471067;NM_194314 AAI32819;AAI36601;AAN71742;AAP97434;BAC87496;CAE45940;EAW91275;NP_919290;Q5SVQ8 Hs.529439 1670578;1698892 RH103014;SHGC-76088 DKFZp686C06120;FLJ36199;FRBZ1;RP11-469L3.1;ZNF924 FRBZ1 protein (FRBZ1);OTTHUMP00000034407;zinc finger and BTB domain-containing protein 41 protein-coding ENSG00000177888 HGNC:24819 17017 VALIDATED 1321100 ZBTB43 zinc finger and BTB domain containing 43 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; celastrol 9 9 9 q33.3 100219618 100252944 + 129567285 129600489 + 126805006 126838210 + 1580863;6480464;8554872 12477932;15489334;16189514;16344560;16542149;18029348;19322201;19847924;22939629;24250222;9455477 23099 O43298;Q5JU97 AB007874;ABBA01043817;AF049907;AK026123;AL161731;AL354944;AMYH02021671;AMYH02021672;BC008828;BT007194;CH471090;DA500531;DA864775;NM_001135776;NM_014007;XM_005251835;XM_005251836 AAC05500;AAH08828;AAP35858;BAA24844;EAW87643;NP_001129248;NP_054726;O43298;XP_005251892;XP_005251893 Hs.355581 1657227;1662484;1687251;1786960;1847964;2108671;5015861;5015961;5019657;5022578;7185938 A006K05;D10S16;D15S1477;D1S1423;G32368;HSC2FG042;RH92108;SHGC-144523;SHGC-3313;ZNF297B_9305 ZBTB22B;ZNF-X;ZNF297B OTTHUMP00000022155;OTTHUMP00000022156;OTTHUMP00000022157;zinc finger and BTB domain-containing protein 22B;zinc finger and BTB domain-containing protein 43;zinc finger protein 297B protein-coding ENSG00000169155 HGNC:17908 08346 VALIDATED 1606019 ZBTB44 zinc finger and BTB domain containing 44 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; benzo[a]pyrene diol epoxide I; disodium selenite 11 11 11 q24.3 127264450 127352483 - 130096572 130184663 - 130226677 130314766 - 6480464 11042152;12107412;12477932;14702039;15146197;15231748;15489334 29068 H0YCZ0;H0YEM9;H7BY22;Q8NCP5 ABBA01023033;AC019227;AF161548;AI446067;AK023933;AK024659;AK026770;AK096676;AK130071;AK314701;AMYH02025787;AMYH02025788;AP001183;BC030580;BC040658;BC049375;BC050723;BC071729;CD671410;CH471065;CN423489;NM_001301098;NM_001301099;NM_014155;XM_005271521;XM_005271522;XM_005271523;XM_005271524;XM_005271525;XM_005271526;XM_006718825;XM_006718826;XR_246421;XR_246423 AAF29035;AAH30580;AAH49375;AAH50723;AAH71729;ABM81802;ABM84957;BAG37249;EAW67777;NP_001288027;NP_001288028;NP_054874;Q8NCP5;XP_005271578;XP_005271579;XP_005271580;XP_005271581;XP_005271582;XP_005271583;XP_006718888;XP_006718889 Hs.721470 1671203;1701284;1737035;1771268;1772150;1857921;2133181;2170052 A003N22;A003N24;D11S2784;RH104271;RH11664;SGC31184;SHGC-31843;WI-15664 BTBD15;HSPC063;MGC26123;MGC57431;MGC60348;MGC88058;ZNF851 BTB (POZ) domain containing 15;BTB/POZ domain-containing protein 15;OTTHUMP00000230934;OTTHUMP00000230935;OTTHUMP00000230937;OTTHUMP00000230938;zinc finger and BTB domain-containing protein 44;zinc finger protein 851 protein-coding ENSG00000196323 HGNC:25001 13692 VALIDATED 1322100 ZBTB45 zinc finger and BTB domain containing 45 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; atrazine; bucladesine 19 19 19 q13.43 56069007 56075032 - 59024897 59031845 - 58513530 58520478 - 1580863;6480464;8554872 12477932;14702039;15489334;16169070 84878 M0QZ57;M0R1I4;Q96K62 ABBA01020764;AC012313;AK027392;AL831909;AMYH02036538;AX882156;BC024738;CH471135;NM_032792;XM_005259341;XM_005259342;XM_006723445 AAH24738;ABZ92075;BAB55079;CAD38572;CAE91462;EAW72602;EAW72603;EAW72604;NP_116181;Q96K62;XP_005259398;XP_005259399;XP_006723508 Hs.515662 1664829 SHGC-57775 DKFZp547H249;FLJ14486;ZNF499 zinc finger and BTB domain-containing protein 45;zinc finger protein 499 protein-coding ENSG00000119574 HGNC:23715 15808 PROVISIONAL 8661968 ZBTB46-AS1 ZBTB46 antisense RNA 1 20 20 62439170 62454368 + 63808076 63823015 + 12477932 101928604 ABBA01021426;AL121845;AL158091;AMYH02037473;AMYH02037474;BC002534;BI089231;BX283586;NR_110081 Hs.676054 ncrna HGNC:40753 VALIDATED 7367946 ZBTB45P2 zinc finger and BTB domain containing 45 pseudogene 2 2 2 2 q13 102787444 102788975 - 111140689 111142220 + 110383111 110384843 + 729248 ABBA01006019;AC112229;AC245043;NG_021578 pseudo HGNC:49228 INFERRED 1343623 ZBTB47 zinc finger and BTB domain containing 47 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 3 3 3 p22.1 42635572 42649469 + 42695176 42709072 + 42653034 42667580 + 737633;6480464;8554872 12477932 10574461;15489334;20116376 92999 D6RDG5;Q9UFB7 AB033016;ABBA01024763;AC006059;AK127065;AL133062;AMYH02006629;BC021855;BF509106;CH471055;NM_145166;XM_005265582;XM_006713415 AAH21855;ADZ15904;BAA86504;BAC86810;CAB61386;EAW64662;NP_660149;Q9UFB7;XP_005265639;XP_006713478 Hs.409561 1663631;1848498;2172953 A002A29;HSC1MF122;SHGC-76863 DKFZp434N0615;KIAA1190;ZNF651 OTTHUMP00000209479;OTTHUMP00000221940;zinc finger and BTB domain-containing protein 47;zinc finger protein 651 protein-coding HGNC:26955 15888 VALIDATED 1345627 ZBTB46 zinc finger and BTB domain containing 46 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of dendritic cell differentiation (inferred); negative regulation of granulocyte differentiation (inferred); negative regulation of macrophage differentiation (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; arsenite(3-); cisplatin 20 20 20 q13.33 59060148 59121043 - 62375021 62463731 - 63743668 63832377 - 6480464 11780052;12136098;12477932;14702039;15489334;19322201;21145461;21297633;21833088;22370726;23251661;23739915 140685 Q6ZMU8;Q86UZ6 ABBA01021419;ABBA01021420;ABBA01021421;ABBA01021422;ABBA01021423;ABBA01021424;ABBA01021425;AK023564;AK126720;AK131482;AL121845;AL158091;AMYH02037469;AMYH02037470;AMYH02037471;AMYH02037472;AMYH02037473;BC052269;BC073800;CH471077;NM_025224;XM_005260195;XM_005260196;XM_005260197;XM_005260198;XM_006723700;XM_006723701;XR_430293 AAH52269;AAH73800;BAD18627;EAW75205;EAW75206;NP_079500;Q86UZ6;XP_005260252;XP_005260253;XP_005260254;XP_005260255;XP_006723763;XP_006723764 Hs.585028 1682802;1686156;1687716;2125077 D20S568E;RH12285;RH98655;SHGC-31176 BTBD4;BZEL;FLJ13502;RINZF;ZNF340;dJ583P15.7;dJ583P15.8 BTB (POZ) domain containing 4;BTB-ZF protein expressed in effector lymphocytes;BTB/POZ domain-containing protein 4;OTTHUMP00000031601;zinc finger and BTB domain-containing protein 46;zinc finger protein 340 protein-coding ENSG00000130584 HGNC:16094 16567 614639 VALIDATED 1346774 ZBTB48 zinc finger and BTB domain containing 48 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH methyl methanesulfonate; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 p36.3 5753931 5763198 + 6640051 6649340 + 6579991 6589280 + 1580863;6480464;8554872 12477932;15231747;15342556;15489334;16189514;18029348;21900206;24382891;2850480;7969177;8661141;9516840 3104 A8K291;B2R702;K7EM76;K7ENV2;P10074;Q5SY20;Q5SY21 AA765826;ABBA01035458;AF318381;AK290156;AK312786;AL591866;AMYH02000179;BC013573;BI913659;BP281477;BX648395;CH471130;HY047768;L16896;M20677;NM_001278647;NM_001278648;NM_005341;U45324;U45325;XM_006710591;XM_006710592;XR_426603 AAA35989;AAA65124;AAB08973;AAB08974;AAH13573;AAL55888;ABM85099;ABM85100;BAF82845;BAG35649;EAW71555;EAW71556;EAW71557;NP_001265576;NP_001265577;NP_005332;P10074;XP_006710654;XP_006710655 Hs.502330 1656496;1761723;2109393;2112922;2112926;2119281;2134215;5107044;5107046 D1S3041;D1S3700E;D1S3702;D1S3712;D1S3713;HKR3_8403;RH78576;SHGC-145696;SHGC-74160 HKR3;ZNF855;pp9964 GLI-Kruppel family member HKR3;OTTHUMP00000001574;krueppel-related zinc finger protein 3;zinc finger and BTB domain-containing protein 48;zinc finger protein 855 protein-coding ENSG00000204859 HGNC:4930 01316 165270 VALIDATED 1316525 ZBTB5 zinc finger and BTB domain containing 5 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; ethyl methanesulfonate; formaldehyde 9 9 9 p13.2 37371332 37398639 - 37438099 37465407 - 37438102 37465410 - 1580863;6480464;8554872 12477932;12586822;15489334;16169070;16189514;19491398;20211142;21693764;21906983;21988832;23000965;23667531;9205841 9925 O15062;Q5T942 AB002352;ABBA01050395;ABBA01050396;AK292404;AL158155;AMYH02019496;AW075599;BC010007;CH471071;DB457364;NM_014872;XM_005251634 AAH10007;ADZ16014;BAA20811;BAF85093;EAW58282;NP_055687;O15062;XP_005251691 Hs.161276 1653090;1849634;1849636 A005W48;G20561;G21184 OTTHUMP00000021384;zinc finger and BTB domain-containing protein 5 protein-coding ENSG00000168795 HGNC:23836 08829 VALIDATED 1314374 ZBTB6 zinc finger and BTB domain containing 6 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH formaldehyde; silicon dioxide; trichostatin A 9 9 9 q33.2 96318642 96323916 - 125670335 125676365 - 122908056 122913328 - 1580863;6480464 12477932;15231748;15489334;19121354;20211142;7958847 10773 Q15916 ABBA01043718;AC007066;AK098650;AK292401;AMYH02021595;BC037282;BU600946;BX390688;BX641237;CH471090;NM_006626;X82018 AAH37282;ABZ92297;BAF85090;CAA57543;EAW87552;NP_006617;Q15916 Hs.654596 ZID;ZNF482 OTTHUMP00000022074;zinc finger and BTB domain-containing protein 6;zinc finger protein 482;zinc finger protein with interaction domain protein-coding ENSG00000186130 HGNC:16764 09341 605976 VALIDATED 7368894 ZBTB45P1 zinc finger and BTB domain containing 45 pseudogene 1 2 2 2 q13 102787119 102788547 - 110744114 110745542 - 109986346 109988164 - 9847074 645129 AC013268;NG_011684 pseudo HGNC:49227 INFERRED 1350408 ZBTB7A zinc finger and BTB domain containing 7A ENCODES a protein that exhibits DNA binding (ortholog); histone acetyltransferase binding (ortholog); INVOLVED IN negative regulation of transcription, DNA-templated (ortholog); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-fluorouracil; atrazine; copper(2+) sulfate 19 19 19 p13.3 3984710 4006260 - 4045216 4066816 - 4045218 4066818 - 6480464;8554872 11907272;12004059;12477932;12750370;14701838;15302935;15337766;15489334;15662416;15917220;16341674;17081983;17189472;17595526;18355317;18368381;18482847;18550205;18682402;18801742;19244234;19444642;19471022;19471103;19505873;20336405;20394500;20812024;20923760;21176152;21251909;21392388;21590684;21640721;21693764;21713761;21771706;21985851;21988832;22242598;22447046;22847180;22939629;23054188;23300578;23396304;23667531;23727861;23874836;23911422;23924858;24261083;24326827;24382891;24393848;8889548;9927193;9973611 51341 O95365;Q8TB76 ABBA01056095;ABBA01056096;ABBA01056097;ABBA01056098;ABBA01056099;AC016586;AF000561;AF097916;AL390151;AMYH02035273;AMYH02035274;BC019108;BC080608;BC084568;BC113511;BM696365;BQ082585;BQ711712;CB047382;CB242327;CH471139;NM_015898;XM_005259570;XM_005259571;XM_005259572 AAB58414;AAC72973;AAH19108;AAH84568;AAI13512;EAW69266;EAW69267;EAW69268;EAW69269;EAW69270;EAW69271;EAW69272;NP_056982;O95365;XP_005259627;XP_005259628;XP_005259629 Hs.591384 1647981;1675529;2126315;2171177;2191391 A006W32;MARC_21177-21178:1027091454:1;RH47736;RH79859;STS-R06252 DKFZp547O146;FBI-1;FBI1;LRF;MGC99631;TIP21;ZBTB7;ZNF857A HIV-1 1st-binding protein 1;HIV-1 inducer of short transcripts binding protein;POK erythroid myeloid ontogenic factor;POZ and Krueppel erythroid myeloid ontogenic factor;TTF-I-interacting peptide 21;factor binding IST protein 1;factor that binds to inducer of short transcripts protein 1;leukemia/lymphoma-related factor;lymphoma related factor;pokemon;zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein;zinc finger and BTB domain-containing protein 7A;zinc finger and btb domain containing 7;zinc finger protein 857A protein-coding ENSG00000178951 HGNC:18078 10433 605878 VALIDATED 1606940 ZBTB7C zinc finger and BTB domain containing 7C ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INTERACTS WITH 17alpha-ethynylestradiol; 4-hydroxynon-2-enal (ortholog); cisplatin (ortholog) 18 18 18 q21.1 42403417 42417178 - 45553043 45935793 - 48026672 48409422 - 6480464 14702039;1716694;17932560;22253232;22331133;23006423;23456168;9427755 201501 A1YPR0;B2RG49;B2RG53;B2RG63;B2RG76;B2RGG0;K7EPC3 ABBA01018630;ABBA01018631;AC024288;AC091150;AC105042;AC105101;AK095226;AM988836;AM988837;AM988838;AM988839;AM989328;AM989329;AM989330;AM989331;AM991276;AM991277;AM991278;AM991279;AM991280;AM991281;AM991282;AM991283;AM991284;AM991959;AM991960;AM991961;AM991962;AM991963;AM991964;AM991965;AM991966;AM991967;AM991968;AM991969;AM991970;AM998476;AM998477;AM998478;AM998479;AM998480;AM998481;AM998482;AM998483;AM998484;AM998485;AM998486;AM998487;AM998488;AMYH02034679;CD366839;EF120357;EU669438;NM_001039360;XM_005258227;XM_005258229;XM_005258230;XM_006722417;XM_006722418 A1YPR0;AAI67847;ABL98073;ACD63426;CAQ43041;CAQ43042;CAQ43043;CAQ43044;CAQ43090;CAQ43091;CAQ43092;CAQ43093;CAQ51259;CAQ51260;CAQ51261;CAQ51262;CAQ51263;CAQ51264;CAQ51265;CAQ51266;CAQ51267;CAQ51321;CAQ51322;CAQ51323;CAQ51324;CAQ51325;CAQ51326;CAQ51327;CAQ51328;CAQ51329;CAQ51330;CAQ51331;CAQ51332;CAQ53083;CAQ53084;CAQ53085;CAQ53086;CAQ53087;CAQ53088;CAQ53089;CAQ53090;CAQ53091;CAQ53092;CAQ53093;CAQ53094;CAQ53095;NP_001034449;XP_005258284;XP_005258286;XP_005258287;XP_006722480;XP_006722481 Hs.515388;Hs.730374;Hs.732162 1686144;1757845;1783666;1783700;1786714 D20S574E;SHGC-144188;SHGC-146679;SHGC-154054;SHGC-154857 APM-1;APM1;FLJ37907;ZBTB36;ZNF857C B230208J24Rik;BTB/POZ-zinc finger protein-like;affected by papillomavirus DNA integration in ME180 cells protein 1;zinc finger and BTB domain containing 36;zinc finger and BTB domain-containing 7C;zinc finger and BTB domain-containing protein 36;zinc finger and BTB domain-containing protein 7C;zinc finger protein 857C protein-coding ENSG00000184828 HGNC:31700 VALIDATED 2307066 ZBTB8B zinc finger and BTB domain containing 8B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 1 1 1 p35.1 31198480 31221280 + 32930658 32953460 + 32465057 32487859 + 6480464 14702039;15761153;16189514;16710414;22939629 728116 Q8NAP8 ABBA01023419;ABBA01023420;ABBA01023421;AL356986;AL442095;AMYH02000711;NM_001145720 CAH10660;NP_001139192;Q8NAP8 Hs.647658 5015861;7185938 D10S16 DKFZp547H154;RP1-27O5.1;ZNF916B OTTHUMP00000235076;putative zinc finger and BTB domain-containing protein 8B;zinc finger and BTB domain-containing protein 8B protein-coding HGNC:37057 PROVISIONAL 1318711 ZBTB8A zinc finger and BTB domain containing 8A ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsane; arsenic atom; cyclosporin A 1 1 1 p35.1 31272592 31340211 + 33004772 33071542 + 32539171 32605941 + 737633;1580863;6480464 12477932 14702039;16189514;16344560;16710414;16959974;17207965;20379614;21988832;23329847 653121 D3DPQ1;Q96BR9 ABBA01023413;ABBA01023414;ABBA01023415;AF548353;AK074546;AL033529;AMYH02000711;AMYH02000712;AMYH02000713;AMYH02000714;AMYH02000715;AY157873;BC015067;BC015239;BC029654;BQ723271;CH471059;CQ783479;DA530035;HY034825;KF495898;NM_001040441;NM_001291496;NR_111980 AAH15067;AAH15239;AAH29654;AAN40800;AAN77376;ADQ32703;BAC11050;CAF86667;EAX07521;EAX07522;EAX07523;NP_001035531;NP_001278425;Q96BR9 Hs.546479 1732826;1746749;5015404;5015619;5015959;5015961;5016478;5016596;5020242;5021369;5022450;5022588;5022651;5024756;5037552;5037554 D10S2448;D10S275;D11S2612;D11S2921;D11S3114;D15S1477;D1S1270;D5S1597E;D8S2279;D8S2282;G64793;GDB:434012;GDB:631802;L17705;L17796;RH80030 BOZ-F1;BOZF1;FLJ90065;MGC17919;ZBTB8;ZNF916A BTB/POZ and zinc-finger domain-containing factor;BTB/POZ and zinc-finger domains factor on chromosome 1;OTTHUMP00000009579;OTTHUMP00000009580;zinc finger and BTB domain containing 8;zinc finger and BTB domain-containing protein 8A protein-coding ENSG00000160062 HGNC:24172 10315 VALIDATED 1315520 ZBTB49 zinc finger and BTB domain containing 49 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH amiodarone; cyclosporin A; 2,4-diaminotoluene (ortholog) 4 4 4 p16.3 4189549 4221151 + 4291924 4323513 + 4290197 4321786 + 737633;6480464;8554872 12477932 14702039;15489334;21988832;22939624;24250222 166793 A8K936;D6RB16;D6RC96;D6RJ00;H0Y8P2;H0YAD4;Q32MK9;Q32ML0;Q6ZSB9 AB209466;ABBA01008244;AC011744;AC105415;AK095878;AK127560;AK292551;AL832751;AMYH02008640;BC016477;BC089401;BC109087;BC109088;CA435417;CH471131;NM_145291;XM_005247951;XM_006713864;XR_241646;XR_427470 AAH16477;AAH89401;AAI09088;AAI09089;BAC87035;BAD92703;BAF85240;EAW82433;EAW82436;NP_660334;Q6ZSB9;XP_005248008;XP_006713927 Hs.419997 1335107;1655561;1685974;1769462;1770287;2178644;2218686 D4S1359;D4S3023;G34214;RH92400;SHGC-24756;SHGC-50475;ZNF509__4862 FLJ38559;MGC126279;MGC126280;ZNF509 OTTHUMP00000115375;zinc finger and BTB domain-containing protein 49;zinc finger protein 509 APPROVED protein-coding ENSG00000168826 HGNC:19883 10335 VALIDATED 1603245 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN tRNA splicing, via endonucleolytic cleavage and ligation; FOUND IN extracellular vesicular exosome; nucleus; tRNA-splicing ligase complex; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; benzo[a]pyrene 1 1 1 p35.1 31355962 31384864 - 33086421 33116565 - 32620820 32651000 - 6480464 12477932;20936779;21139048;21890473;24250222;24870230 339487 A8K0B5;H7C3R6;Q7Z617;Q8IWT0;S4R426 ABBA01023410;ABBA01023411;ABBA01023412;ABBA01023413;AC114489;AK289480;AL033529;AL138800;AMYH02000715;AMYH02000716;AMYH02000717;AY099493;AY099494;AY151084;AY151085;AY158005;BC058843;CH471059;NM_178547;XM_005270799;XM_005270801;XM_005270802 AAH58843;AAM34477;AAM34478;AAN75223;AAN75224;AAO16589;BAF82169;EAX07516;EAX07517;EAX07518;EAX07519;NP_848642;Q8IWT0;XP_005270856;XP_005270858;XP_005270859 Hs.655921 ARCH;ARCH2;MGC62007 OTTHUMP00000009581;OTTHUMP00000036124;archease (ARCH);archease-like protein;protein archease;zinc finger and BTB domain-containing opposite strand protein 8 protein-coding ENSG00000176261 HGNC:24094 12470 615891 PROVISIONAL 5134876 ZBTB8OSP1 zinc finger and BTB domain containing 8 opposite strand pseudogene 1 4 4 4 q31.3 148961565 148962022 + 151642127 151642768 + 150720975 150721616 + 729566 ABBA01070094;AC092544;AMYH02010296;NG_029802;NG_032855 1652487;1708942;2151959 D4S861;G17087;SHGC-79526 pseudo HGNC:19043 INFERRED 1354226 ZBTB9 zinc finger and BTB domain containing 9 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; atrazine; copper(2+) sulfate 6 6 6 p21.32 34976782 34979747 + 33422356 33425321 + 33454579 33457544 + 737633;1580863;6480464 12477932 14702039;15489334;17207965;18029348;19471022;19851445;20211142;21139048;21685187;21693764;21906983;24163370 221504 Q96C00 ABBA01038152;AK122644;AK313571;AL662799;AMYH02013489;BC014978;BC048321;BX088650;BX488390;CH471081;NM_152735 AAH14978;ADQ32645;BAG36344;BAG53637;EAX03739;NP_689948;Q96C00 Hs.591805 1666448;2108549;5127011 RH36442;RH78785;SYNGAP1_8862 MGC23166;ZNF919 OTTHUMP00000178750;zinc finger and BTB domain-containing protein 9 protein-coding ENSG00000213588 HGNC:28323 15695 VALIDATED 1602891 ZC2HC1A zinc finger, C2HC-type containing 1A ENCODES a protein that exhibits metal ion binding (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; copper(2+) sulfate 8 8 8 q21.12 75582002 75635724 + 79578282 79632000 + 78666047 78719765 + 6480464 10810093;12477932;14702039;15489334;16344560;16964243;17207965;19322201;21832049;24816145 51101 B2R9B8;H0YAP0;Q96GY0 ABBA01004083;ABBA01004084;ABBA01004085;AC100854;AF151820;AK024711;AK094296;AK313723;AMYH02018271;AMYH02018272;BC009074;BC035905;BU075578;CH471068;DA137885;NM_016010;XM_005251256;XM_006716454 AAD34057;AAH09074;ADQ32292;BAG36465;EAW87059;NP_057094;Q96GY0;XP_005251313;XP_006716517 Hs.271876 1673160;1698808;1723929 RH102967;RH118695;RH47335 C8orf70;CGI-62;FAM164A OTTHUMP00000227042;family with sequence similarity 164, member A;hypothetical protein LOC51101;zinc finger C2HC domain-containing protein 1A APPROVED protein-coding ENSG00000104427 HGNC:24277 13039 VALIDATED 1349089 ZC2HC1B zinc finger, C2HC-type containing 1B ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH paracetamol (ortholog); pirinixic acid (ortholog) 6 6 6 q24.2 144925982 144999908 + 144185573 144259483 + 143864436 143938346 + 6480464;8554872 12477932;14574404 153918 B7ZW40;H7C2Y9;Q5TFG8 ABBA01025743;ABBA01025744;AL049844;AMYH02014640;AMYH02014641;BC146950;BC146969;BC171862;CH471051;DB515645;KF458310;NM_001013623 AAI46951;AAI46970;AAI71862;EAW47857;NP_001013645;Q5TFG8 Hs.121188 1686758 RH99001 C6orf94;FAM164B;dJ468K18.5 OTTHUMP00000017341;family with sequence similarity 164, member B;hypothetical protein LOC153918;zinc finger C2HC domain-containing protein 1B APPROVED protein-coding ENSG00000118491 HGNC:21174 10178 VALIDATED 1316129 ZC2HC1C zinc finger, C2HC-type containing 1C ENCODES a protein that exhibits metal ion binding (inferred); INTERACTS WITH copper(2+) sulfate; quercetin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q24.3 55573960 55582456 + 75535935 75544799 + 75068922 75079987 + 6480464 12477932;14702039;15489334;16189514;24250222 79696 E9PJ43;E9PMG6;E9PNG2;G3V3E3;H0YE08;J3KMY6;Q53FD0 ABBA01030707;AK026746;AK223359;AK303882;AL049780;AMYH02029530;BC004259;BQ061857;BX110341;CH471061;HY031397;N62812;NM_001042430;NM_024643;NR_110315;XM_005268062;XM_005268063;XM_006720255 AAH04259;BAB15541;BAD97079;BAG64818;EAW81217;EAW81218;EAW81219;NP_001035895;NP_078919;Q53FD0;XP_005268119;XP_005268120;XP_006720318 Hs.48642 1697708;2129232 G36089;RH102372 C14orf140;FAM164C;FLJ23093 OTTHUMP00000235939;OTTHUMP00000235940;OTTHUMP00000246808;chromosome 14 open reading frame 140;family with sequence similarity 164, member C;hypothetical protein LOC79696;zinc finger C2HC domain-containing protein 1C APPROVED protein-coding ENSG00000119703 HGNC:20354 16607 VALIDATED 1602996 ZC3H10 zinc finger CCCH-type containing 10 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH atrazine; diazinon; genistein 12 12 12 q13.2 56164175 56168423 + 56512030 56517143 + 56118246 56122494 + 6480464 12477932;14702039;15489334;16189514;16713569;18814840;19060904;19240061;21145461;23275563 84872 F8VQT2;F8VSG0;F8VYY3;Q96K80 ABBA01008405;AC034102;AK027357;AMYH02026562;AX883563;BC018708;CH471054;NM_032786 AAH18708;ACE87035;ACE87719;BAB55059;CAE92022;EAW96888;EAW96889;NP_116175;Q96K80 Hs.632706 1646297;1699182;1771706;2128149;2137395 D12S1978;RH103171;RH46352;RP_L41_1;STS-AA035449 FLJ14451;ZC3HDC10 OTTHUMP00000243152;OTTHUMP00000243201;zinc finger CCCH domain-containing protein 10;zinc finger CCCH-type domain containing 10 protein-coding HGNC:25893 07860 PROVISIONAL 1314302 ZBTB7B zinc finger and BTB domain containing 7B This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 1 1 1 q21.3 128046136 128062022 + 154975106 154991001 + 155002627 155018525 + 1580863;6480464 10856292;11691585;12477932;15489334;16189514;16344560;16710414;17698844;18029348;18298657;18800158;19453261;19479890;19505873;19696430;19886737;20211142;20307210;20809492;20810990;20847520;20969593;21357543;21762816;21948191;21988832;22139845;22246292;22730529;23315079;23349906;23535732;23609452;24457600;24722188;7937772;9370309;9421237 51043 O15156 ABBA01016720;ABBA01016721;ABBA01016722;AF007833;AI270090;AK127884;AK291619;AK304762;AL451085;AMYH02001938;AW663133;BC012070;BC128176;BF510901;BM801567;BX114870;CH471121;CK820289;CR749303;CV572166;DA970906;DB241444;NM_001252406;NM_001256455;NR_045515;NR_046206;NR_049765;XM_006711349;XM_006711350;XM_006711351;XM_006711352;XM_006711353;XM_006711354;XM_006711355;XM_006711356;XM_006711357;XM_006711358;XM_006711359 AAC51847;AAH12070;ABZ92023;ACE86946;ACE86993;ACE86999;ACE87634;ACE87682;ACE87688;BAF84308;BAG65517;CAH18158;EAW53149;EAW53150;EAW53151;NP_001239335;NP_001243384;O15156;XP_006711412;XP_006711413;XP_006711414;XP_006711415;XP_006711416;XP_006711417;XP_006711418;XP_006711419;XP_006711420;XP_006711421;XP_006711422 Hs.729279;Hs.744441 1670517;1707974;2110059 L17988;SHGC-84651;ZFP67__4945 CKROX;DKFZp686G01254;THPOK;ZBTB15;ZFP-67;ZFP67;ZNF857B;c-Krox;hcKrox OTTHUMP00000035544;OTTHUMP00000035545;T-helper-inducing POZ/Krueppel-like factor;krueppel-related zinc finger protein cKrox;kruppel-related zinc finger protein hcKrox;zinc finger and BTB domain containing 15;zinc finger and BTB domain-containing protein 15;zinc finger and BTB domain-containing protein 7B;zinc finger protein 67 homolog;zinc finger protein 67 homolog (mouse);zinc finger protein 857B;zinc finger protein Th-POK APPROVED protein-coding ENSG00000160685 HGNC:18668 09625 607646 REVIEWED 4144726 ZBTB8OSP2 zinc finger and BTB domain containing 8 opposite strand pseudogene 2 2 2 2 q37.1 226075026 226075489 - 232298483 232299141 - 231433772 231434430 - 729898 ABBA01002057;AC017104;AMYH02005967;NG_028934 pseudo HGNC:30326 INFERRED 1605103 ZC3H11A zinc finger CCCH-type containing 11A ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN poly(A)+ mRNA export from nucleus; ASSOCIATED WITH Melanoma (inferred); FOUND IN transcription export complex; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene diol epoxide I; bisphenol A 1 1 1 q32.1 176894976 176957901 + 203764665 203823256 + 203795537 203854128 + 6480464;8554872 11181995;12477932;14702039;15302935;15489334;16189514;16344560;16565220;16964243;17081983;19060904;19471022;19536175;19596686;20020773;21139048;21252943;21628590;21693764;21906983;22505724;22586326;22939629;23752268;24457600;24722188;24778252;24816145;9734811 9877 C9J0L0;E9PBY7;E9PQ61;O75152 AB014563;ABBA01027467;ABBA01027468;ABBA01027469;ABBA01027470;AC114402;AK095858;AK296983;AK310470;AL049419;AMYH02002518;AMYH02002519;BC014268;BC038513;BC046137;BC048271;BX648271;BX649148;CA419266;CH471067;CR627439;CR627446;DA800934;NM_014827;XM_005245643;XM_005245644;XM_005245646;XM_006711673 AAH14268;AAH46137;BAA31638;BAG59524;CAH10525;CAH10530;CAH10553;CAH10566;EAW91492;EAW91493;NP_055642;O75152;XP_005245700;XP_005245701;XP_005245703;XP_006711736 Hs.532399 1670697;1687109;1697896;1773432;1856908;2125797;5092766;5113076;5117212;5124964 A006B32;AL009827;AL010093;G32317;GDB:451791;RH102476;RH79757;RH80717;RH99217;SHGC-57057 DKFZp686D03108;DKFZp686F14109;DKFZp781G2455;KIAA0663;ZC3HDC11A OTTHUMP00000034096;OTTHUMP00000034097;OTTHUMP00000034213;OTTHUMP00000034214;OTTHUMP00000034215;OTTHUMP00000034216;zinc finger CCCH domain-containing protein 11A;zinc finger CCCH-type domain containing 11A protein-coding ENSG00000058673 HGNC:29093 11100 613513 VALIDATED 1603332 ZC3H11B zinc finger CCCH-type containing 11B pseudogene 6 1 1 q41 64178432 64183656 + 219781269 219786487 - 219607927 219613145 - 22685421;23754948;24144296 643136 ABBA01048092;AC096643;AL356364;AMYH02002726;CH471100;NG_007367 EAW93317 1762703 SHGC-146498 ZC3HDC11B pseudo HGNC:25659 INFERRED 1601698 ZC3H12B zinc finger CCCH-type containing 12B The protein encoded by this gene belongs to a family of CCCH-type zinc finger proteins that are involved in the proinflammatory activation of macrophages. The exact function of this family member is unknown, but it is thought to function as a ribonuclease. [provided by RefSeq, May 2010] X X X q12 65055755 65074911 + 64708058 64727767 + 65488178 65507887 + 6480464 12477932;14702039;15772651;16344560;18029348;18178554;8889548 340554 Q5HYM0 ABBA01067020;ABBA01067021;ABBA01067022;AK091685;AL050306;AL712229;AMYH02039609;BC140767;BC171781;BU688472;BX415643;BX647241;CH471132;DA401831;DY655010;KF459147;NG_021264;NM_001010888;XM_005262260;Z83841 AAI40768;AAI71781;CAI46044;EAX05405;EAX05406;NP_001010888;Q5HYM0;XP_005262317 Hs.21249 1661613;1702400;1846850;2138641;5019639 A005W20;DXS910;G32300;RH12487;SHGC-32201 CXorf32;MCPIP2 MCP-induced protein 2;OTTHUMP00000023434;OTTHUMP00000226684;probable ribonuclease ZC3H12B;zinc finger CCCH domain-containing protein 12B APPROVED protein-coding ENSG00000102053 HGNC:17407 16774 300889 REVIEWED 1602205 ZC3H12A zinc finger CCCH-type containing 12A ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008] 1 1 1 p34.3 36218067 36227926 + 37940119 37949978 + 37474518 37484377 + 6480464;8554872 12477932;14702039;15862967;16189514;16344560;16574901;18029348;18178554;18364357;19185603;19747262;20807520;21115689;21900206;21903422;21971051;21988832;22055188;22132693;22196138;22505724;22820500;23185455;23355615;23658019;24008336;24048733;24191027;24270572 80149 Q5D1E8;R4GN17 ABBA01023277;ABBA01023278;AK026884;AK093343;AL034379;AL449284;AMYH02000797;AY920403;BC005001;CH471059;CR457364;CR995909;DA601465;FJ695517;NM_025079;XM_005271226;XM_005271227;XM_006710925;XM_006710926 AAH05001;AAX14017;ACN39723;BAB15581;BAG52695;CAG33645;EAX07346;EAX07347;EAX07348;NP_079355;Q5D1E8;XP_005271283;XP_005271284;XP_006710988;XP_006710989 Hs.656294 1701636 RH104462 FLJ23231;MCPIP;MCPIP1;RP3-423B22.1;dJ423B22.1 MCP induced protein 1;MCP-1 treatment-induced protein;MCP-induced protein 1;OTTHUMP00000004398;OTTHUMP00000004399;ZC3H12A {ECO:0000312|EMBL:EAX07346.1};ribonuclease ZC3H12A;zinc finger CCCH domain-containing protein 12A APPROVED protein-coding ENSG00000163874 HGNC:26259 08021 610562 VALIDATED 1602083 ZC3H12C zinc finger CCCH-type containing 12C ENCODES a protein that exhibits endonuclease activity (inferred); metal ion binding (inferred); INVOLVED IN nucleic acid phosphodiester bond hydrolysis (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH calcitriol; crocidolite asbestos; cyclosporin A 11 11 11 q22.3 107117954 107196032 + 109963673 110042566 + 110092947 110171841 + 6480464;8554872 11214970;14702039;17114934;17903301;18178554;20379614;21903422;23360436 85463 E9PP00;Q9C0D7 AB051513;AB096241;ABBA01039839;ABBA01039840;AK095101;AK295437;AK299100;AL832893;AMYH02025565;AP000901;AP001889;KF511113;NM_033390;XM_005271715;XM_005271717 BAB21817;BAG58377;BAG61159;NP_203748;Q9C0D7;XP_005271772;XP_005271774 Hs.376289 1671751;1672581;1732393;1737787;1763099;1769322;2111766;2147568;2151771 D11S1865;D11S3389;D11S4469;D11S4676;RH47345;RH66754;SHGC-146834;SHGC-34524;STS-D59827 KIAA1726;MCPIP3 MCP induced protein 3;MCP-induced protein 3;OTTHUMP00000233504;OTTHUMP00000233505;OTTHUMP00000233506;probable ribonuclease ZC3H12C;zinc finger CCCH domain-containing protein 12C protein-coding ENSG00000149289 HGNC:29362 615001 VALIDATED 1345806 ZC3H12D zinc finger CCCH-type containing 12D ENCODES a protein that exhibits endonuclease activity (inferred); metal ion binding (inferred); INVOLVED IN negative regulation of cell growth; negative regulation of G1/S transition of mitotic cell cycle; FOUND IN cytoplasm; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 6 6 6 q25.1 150503861 150541240 - 149768766 149806148 - 149447630 149485012 - 6480464 12477932;14574404;14702039;15489334;17210687;17854321;18029348;18178554;19531561;21732829;22036805 340152 A2A288;B7ZBA4;H0Y4Y6 AB458221;AB458222;ABBA01025682;AK090441;AK127932;AL031133;AMYH02014690;BC127762;BC157832;NM_207360 A2A288;AAI27763;AAI57833;BAC03422;BAC87196;BAH28268;BAH28269;CAX11886;CAX11887;NP_997243 Hs.632618 1338402;1724739;1774208;5015861;5015961;5016596;5020740;5022578;5022651;5024413;5037552;7185938 D10S16;D11S2921;D15S1477;D1S1423;D6S1303;D6S1553;D8S2279;GDB:631802;L17809;L17877;RH122574 C6orf95;FLJ00361;FLJ46041;MCPIP4;TFL;dJ281H8.1;p34 MCP induced protein 4;MCP-induced protein 4;MCP-induced protein 4 {ECO:0000303|PubMed:18178554};OTTHUMP00000183473;Zinc finger CCCH domain-containing protein 12D;chromosome 6 open reading frame 95;p34 {ECO:0000303|PubMed:17210687};probable ribonuclease ZC3H12D;transformed follicular lymphoma;tumor suppressor TFL protein-coding ENSG00000178199 HGNC:21175 611106 VALIDATED 1601751 ZC3H15 zinc finger CCCH-type containing 15 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN cytokine-mediated signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH 2-methylcholine; cadmium dichloride; disodium selenite 2 2 2 q32.1 180946684 180969891 + 187350885 187374088 + 186486158 186509361 + 6480464;8554872 10880228;12477932;14702039;15676025;16009940;17207965;18029348;19819225;20925576;21139048;21890473;21900206;21906983;22053931;22113938;22939629;23000965;23125841;23455922;23624947;23711155;24244333;24250222;24457600;24816145 55854 F8WB26;F8WF67;H7C466;Q8WU90 ABBA01062338;ABBA01062339;AC018867;AF109366;AF147724;AF161421;AF220184;AF289586;AK001901;AK297658;AK298615;AL040058;AMYH02005405;BC012336;BC021102;CH471058;NM_018471 AAF28981;AAF67649;AAH21102;AAL55770;AAQ13514;AAX88885;ABW03804;ADQ32272;BAA91968;BAG60024;BAH12828;EAX10935;EAX10936;NP_060941;Q8WU90 Hs.741180 1724165;1776861;2152657;2170770;5093594 A009S24;G32811;RH121216;RH70209;T16069 HT010;LEREPO4;MSTP012 DRG family-regulatory protein 1;OTTHUMP00000205376;likely ortholog of mouse immediate early response erythropoietin 4;zinc finger CCCH domain-containing protein 15 protein-coding ENSG00000065548 HGNC:29528 13988 VALIDATED 1317090 ZC3H13 zinc finger CCCH-type containing 13 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH carmustine; formaldehyde; indometacin 13 13 13 q14.13 27591025 27681609 - 46528600 46626896 - 45954465 46052761 - 6480464;8554872 10048485;11230166;12477932;14702039;15009096;15057823;15144186;15146197;15161933;15302935;15998806;16964243;17081983;19596686;19850743;20133760;20195357;20805357;20811636;22113938;22586326;22939629;23084401;24457600;24816145 23091 A0PJJ2;Q5T200;Q5T9K0 AB020660;ABBA01050982;AK001815;AK056422;AK074924;AK092988;AL136745;AL157758;AL445232;AL831833;AMYH02027981;AMYH02027982;AMYH02027983;AY283618;BC019000;BC032425;BC050658;BC062685;BC107864;CH471075;CN262326;DA498537;NM_015070;XM_005266301;XM_005266302;XM_005266303;XM_005266304;XM_005266305;XM_005266306;XM_005266307;XM_005266308;XM_005266309;XM_005266310;XM_005266311;XM_005266312 AAH19000;AAH32425;AAI07865;AAI56056;AAI57033;AAP37483;BAA74876;BAG50980;BAG52030;CAB66679;CAD38544;EAX08750;EAX08751;EAX08752;NP_055885;Q5T200;XP_005266358;XP_005266359;XP_005266360;XP_005266361;XP_005266362;XP_005266363;XP_005266364;XP_005266365;XP_005266366;XP_005266367;XP_005266368;XP_005266369 Hs.136102 1643642;1651032;1664226;1672988;1687808;1721919;1736332;1773231;1777842;1788200;2111538;2111724;2128351;2174121;2177044;2217188;7184668;7186794 CPB2_3955;D13S1161;D13S1506;D13S1628;D13S181E;D13S833E;G59992;G67450;RH45819;RH92354;SGC34601;SGC38098;SHGC-53446;SHGC-56715;T03607;WIAF-1544 DKFZp434D1812;FLJ35669;KIAA0853 OTTHUMP00000018356;OTTHUMP00000018357;zinc finger CCCH domain-containing protein 13 protein-coding ENSG00000123200 HGNC:20368 08307 VALIDATED 1602304 ZC3H18 zinc finger CCCH-type containing 18 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH aflatoxin B1; atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 q24.2 73707153 73768044 + 88636789 88698372 + 88570381 88631964 + 6480464;8554872 12477932;14702039;15146197;15302935;16344560;17332742;17579712;18029348;19596686;19615732;20379614;21044950;21139048;21145461;21549307;22586326;22939629;23455922;24250222;24639526;24816145;8125298 124245 E7ERS3;H3BP01;H3BPD0;H3BRH3;H3BRN6;Q86VM9 ABBA01015842;ABBA01015843;AC116552;AK026317;AK091849;AK093394;AK122593;AK225807;AK300254;AK302716;AMYH02032638;AMYH02032639;AMYH02032640;AMYH02032641;BC001584;BC050463;CH471184;CN299704;CN299707;DA313229;DB007291;NM_001294340;NM_144604;XM_005256282 AAH01584;AAH50463;ACE86893;ACE87580;BAC56934;BAG52426;BAG52705;BAG62019;BAG63936;EAW66799;EAW66800;EAW66801;EAW66802;EAW66803;EAW66804;EAW66805;NP_001281269;NP_653205;Q86VM9;XP_005256339 Hs.93670 1699574;1740861;1751123;1853632 D16S3249;RH103388;RH69310;SHGC-105016 FLJ22664;FLJ34530;FLJ36075;NHN1 OTTHUMP00000175044;conserved nuclear protein NHN1;nuclear protein NHN1;zinc finger CCCH domain-containing protein 18 protein-coding ENSG00000158545 HGNC:25091 11232 VALIDATED 1316375 ZC3H3 zinc finger CCCH-type containing 3 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN mRNA polyadenylation; poly(A)+ mRNA export from nucleus; regulation of mRNA export from nucleus; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 5-aza-2'-deoxycytidine; 5-fluorouracil; aflatoxin B1 8 8 8 q24.3 140831713 140933556 - 144519825 144624449 - 143437655 143553494 - 737633;6480464;8554872 12477932 15489334;16115198;19364924;19851296;20198315;21139048;23509962;24163370;24250222;8590280 23144 H0YEY2;Q8IXZ2 AA806585;ABBA01005251;AC067930;AC105118;AMYH02018940;AMYH02018941;BC038670;BM148116;CH471162;D63484;NM_015117;XM_006716530;XM_006716531;XM_006716532;XM_006716533;XM_006716534;XM_006716535;XM_006716536;XM_006716537 AAH38670;BAA09771;EAW82249;NP_055932;Q8IXZ2;XP_006716593;XP_006716594;XP_006716595;XP_006716596;XP_006716597;XP_006716598;XP_006716599;XP_006716600 Hs.521915 1735794;2148722;2156668 D8S1406E;D8S1998;RH25370 KIAA0150;ZC3HDC3 OTTHUMP00000228527;zinc finger CCCH domain-containing protein 3;zinc finger CCCH type domain containing 3;zinc finger CCCH-type domain containing 3 protein-coding ENSG00000014164 HGNC:28972 15697 VALIDATED 1322317 ZC3H6 zinc finger CCCH-type containing 6 ENCODES a protein that exhibits metal ion binding (inferred); INTERACTS WITH aflatoxin B1; copper atom; copper(0) 2 2 2 q13 105948735 105989201 - 113033178 113097640 + 112275594 112340063 + 6480464 12477932;14702039;15815621;16344560;24337577;8889548 376940 P61129;Q6ZN12 AB111887;ABBA01005776;ABBA01005777;ABBA01005778;ABBA01005779;ABBA01005780;AC115115;AK123404;AK127776;AK131416;AL831901;AMYH02004585;BC155540;BC167154;BM683817;BX649154;DA334613;NM_198581;XM_006712519;XM_006712520 AAI55541;AAI67154;BAC85608;BAC87128;BAC98375;BAD18563;NP_940983;P61129;XP_006712582;XP_006712583 Hs.190477 2127901;2141660;2218886;5015404;5020946;5022200;5024413 L17705;L17877;L17971;L18426;RH17794;RH69414;ZC3HDC6__4926 FLJ16526;FLJ41410;FLJ45877;KIAA2035;ZC3HDC6 OTTHUMP00000203604;zinc finger CCCH domain-containing protein 6;zinc finger CCCH type domain containing 6;zinc finger CCCH-type domain containing 6 protein-coding ENSG00000188177 HGNC:24762 15698 VALIDATED 1322571 ZC3H7A zinc finger CCCH-type containing 7A ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (S)-nicotine; benzo[a]pyrene diol epoxide I; ethyl methanesulfonate 16 16 16 p13-p12 12018794 12050728 - 11844442 11891114 - 11750586 11797258 - 737633;1580863;6480464;8554872 12477932 11042152;14702039;15489334;16169070;16344560;17081983;19305408;20936779;21139048;21890473;21906983;21963094;21988832;22118674;22505724;23000965;24457600;24816145 29066 I3L1Y3;I3L282;I3L2K5;I3L2N8;I3L323;I3L382;I3L3F9;I3L3S2;Q8IWR0 ABBA01006830;ABBA01006831;ABBA01006832;AC007613;AC010654;AF161540;AK000325;AK000889;AK001869;AK026827;AK026956;AK091803;AMYH02031478;AMYH02031479;AMYH02031480;AMYH02031481;AY163807;BC012575;BC036857;BC046363;BX647154;CH471112;DA160892;NM_014153;XM_005255270;XM_005255272;XM_005255273;XM_006720877 AAF29027;AAH12575;AAH36857;AAH46363;AAO06906;BAA91087;BAA91408;BAA91952;EAW85138;EAW85139;EAW85140;NP_054872;Q8IWR0;XP_005255327;XP_005255329;XP_005255330;XP_006720940 Hs.371856 1660483;1676968;1690836;2119874;2155882 RH65161;RH68328;RH68685;RH76661;SHGC-35050 FLJ10027;FLJ20318;HSPC055;ZC3H7;ZC3HDC7 OTTHUMP00000160260;zinc finger CCCH domain-containing protein 7A;zinc finger CCCH type domain containing 7;zinc finger CCCH-type domain containing 7;zinc-finger protein AY163807 protein-coding ENSG00000122299 HGNC:30959 11694 VALIDATED 1321369 ZC3H8 zinc finger CCCH-type containing 8 ENCODES a protein that exhibits poly(A) RNA binding; sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding (ortholog); INVOLVED IN negative regulation of T cell differentiation in thymus; negative regulation of transcription, DNA-templated; positive regulation of thymocyte apoptotic process; FOUND IN Cajal body; histone locus body; transcription elongation factor complex; INTERACTS WITH atrazine; cyclosporin A; ethyl methanesulfonate 2 2 2 q13 106033603 106072833 + 112973439 113012664 - 112215862 112255087 - 737633;1580863;6480464 12477932 12077251;12153508;15489334;17207965;22113938 84524 Q53RD8;Q8N5P1 ABBA01005781;ABBA01005782;AC092645;AC115115;AF334161;AK315329;AMYH02004584;AMYH02004585;BC032001;BG773518;CH471245;CV574571;NM_032494;XM_005263826 AAH32001;AAK13496;AAY14855;AAY24050;ADQ33156;EAW52103;NP_115883;Q8N5P1;XP_005263883 Hs.418416 1340718;1662714;1687648;2218654;7185112 D2S160;RH93396;STS-AA007304;ZC3HDC8__4927 Fliz1;ZC3HDC8 OTTHUMP00000203585;zinc finger CCCH domain-containing protein 8;zinc finger CCCH type domain containing 8;zinc finger CCCH-type domain containing 8 protein-coding ENSG00000144161 HGNC:30941 11695 VALIDATED 736106 ZC3HAV1 zinc finger CCCH-type, antiviral 1 This gene encodes a CCCH-type zinc finger protein that is thought to prevent infection by retroviruses. Studies of the rat homolog indicate that the protein may primarily function to inhibit viral gene expression and induce an innate immunity to viral infection. Alternative splicing occurs at this locus and two variants, each encoding distinct isoforms, are described. [provided by RefSeq, Jul 2008] 7 7 7 q34 133466056 133532619 - 138728266 138794466 - 139043520 139109720 - 6480464 11483580;12215647;12477932;12690205;12851707;14557641;14702039;15302935;15489334;16009940;16449650;16964243;17081983;17928353;18029348;18225958;18781797;19156129;19322201;19596686;20020773;20048147;20451500;21102435;21139048;21145461;21182203;21832049;21876179;21890473;21907836;21987572;22053931;22319148;22505724;22586326;22939629;22944692;22951821;23000965;23254330;23443559;23776219;23825951;23853601;24457600;24457973;24654937;24778252;24816145;25027693 56829 C9J6P4;H7C5K1;Q7Z2W4 ABBA01001182;ABBA01001183;AC018644;AC083868;AF138863;AK023350;AK055851;AK098308;AK292811;AMYH02016879;AMYH02016880;AMYH02016881;AMYH02016882;BC002935;BC025308;BC027462;BC033105;BC038809;BC040956;BX571742;BX647138;BX647974;CH236950;CH471070;NG_029457;NM_020119;NM_024625;XM_005250501 AAF61195;AAH02935;AAH25308;AAH27462;AAH33105;AAH40956;BAB14537;BAB71028;BAF85500;CAE11868;EAL24040;EAL24041;EAW83902;EAW83903;EAW83904;EAW83905;NP_064504;NP_078901;Q7Z2W4;XP_005250558 Hs.133512 1337843;1650431;1653961;1660614;1705736;1789532;1789534;1797056;1850030;2144051;2162997;5016781;5022578;5037552;7185184 D1S1423;D7S2505;D7S2900;D7S3188;D7S3189;D8S2279;GDB:1317546;GDB:1317718;RH18282;RH45679;SGC44417;SHGC-67307;SHGC-83458;ZAP_1348 ARTD13;DKFZp686F2052;DKFZp686H1869;DKFZp686O19171;FLB6421;FLJ13288;MGC48898;PARP13;ZAP;ZC3H2;ZC3HDC2 ADP-ribosyltransferase diphtheria toxin-like 13;CCCH-type zinc finger antiviral protein;OTTHUMP00000212199;OTTHUMP00000212200;OTTHUMP00000212201;ccch-type zinc finger antiviral protein (zap);zinc finger CCCH domain-containing protein 2;zinc finger CCCH type, antiviral 1;zinc finger CCCH-type antiviral protein 1;zinc finger antiviral protein APPROVED protein-coding ENSG00000105939 HGNC:23721 09534 607312 REVIEWED 1601882 ZC3H7B zinc finger CCCH-type containing 7B This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 25503966 25562550 + 41697507 41756151 + 41301503 41360147 + 6480464 10470851;10591208;11230166;12477932;14702039;15047801;15489334;15592455;16713569;18799579;18854154;20379614;21139048;22118674;22505724;22939624;22939629;23580382;24163370;24816145;8125298 23264 Q9BSS8;Q9UGR2 AB028954;ABBA01055628;ABBA01055629;AF188530;AK023849;AK225891;AK315009;AL035659;AL136802;AMYH02038435;AMYH02038436;AMYH02038437;AMYH02038438;BC004857;BC024313;BC047002;BC056860;BC098378;BC152558;CH471095;NM_017590 AAF05541;AAH04857;AAH24313;AAI52559;AAI67846;BAA82983;BAG37501;EAW60425;EAW60426;EAW60427;EAW60428;EAW60429;NP_060060;Q9UGR2 Hs.592188 2142992;5020274;5037552 D22S1546;D8S2279;L18441 DKFZp434K0920;FLJ13787;KIAA1031 OTTHUMP00000198832;RoXaN;Rotavirus 'X' associated non-structural protein;rotavirus 'X'-associated non-structural protein;rotavirus X protein associated with NSP3;ubiquitous tetratricopeptide containing protein RoXaN;zinc finger CCCH domain-containing protein 7B APPROVED protein-coding ENSG00000100403 HGNC:30869 06711 REVIEWED 732811 ZC3H14 zinc finger CCCH-type containing 14 ZC3H14 belongs to a family of poly(A)-binding proteins that influence gene expression by regulating mRNA stability, nuclear export, and translation (Kelly et al., 2007 [PubMed 17630287]).[supplied by OMIM, Mar 2010] 14 14 14 q31.3 69074847 69125490 + 89029253 89079853 + 88562909 88613509 + 6480464;8554872 10508479;12477932;14702039;16159877;16189514;16344560;17630287;18029348;19273536;19303045;19471022;20658987;21139048;21355046;21734151;21890473;21906983;22505724;22586326;22939629;23000965;24163370;24250222;24457600;24671764;24816145 79882 G3V240;G3V256;G3V2X4;G3V3R9;G3V3Y4;G3V411;G3V473;G3V4R5;G3V572;G3V5I6;H0YJ51;H0YJ87;H0YJA2;Q6PJT7 ABBA01030527;ABBA01030528;ABBA01030529;AF155107;AF474376;AK021868;AK090809;AK302136;AK303123;AK304275;AL162171;AL359625;AL834215;AMYH02029700;AMYH02029701;AY578060;AY578061;AY578062;AY578063;BC011793;BC023641;BC027607;BC034274;BX248265;BX248281;BX248769;BX640716;BX640876;CH471061;DB050247;DB452844;KF495808;NM_001160103;NM_001160104;NM_024824;NM_207660;NM_207661;NM_207662;XM_005268067;XM_005268068;XM_005268069;XM_005268070;XM_005268071;XM_005268073;XM_006720257 AAD42873;AAH11793;AAH23641;AAH27607;AAL83289;AAS90299;AAS90300;AAS90301;AAS90302;ACE86966;ACE87656;BAG63510;BAG64229;BAG65136;CAD38897;CAD62593;CAD62609;CAD66576;CAE45835;CAE45933;EAW81384;EAW81385;EAW81386;EAW81387;EAW81388;EAW81389;EAW81390;EAW81391;EAW81392;NP_001153575;NP_001153576;NP_079100;NP_997543;NP_997544;NP_997545;Q6PJT7;XP_005268124;XP_005268125;XP_005268126;XP_005268127;XP_005268128;XP_005268130;XP_006720320 Hs.686171 1673769;5110559 D14S1346;RH45165 FLJ11806;MGC26892;MSUT-2;NY-REN-37;SUT2;UKp68 OTTHUMP00000244412;OTTHUMP00000244413;OTTHUMP00000244416;OTTHUMP00000244418;OTTHUMP00000244420;OTTHUMP00000244421;OTTHUMP00000244422;OTTHUMP00000244425;OTTHUMP00000244427;OTTHUMP00000244428;OTTHUMP00000244429;mammalian suppressor of tau pathology-2;nuclear protein UKp68;renal carcinoma antigen NY-REN-37;zinc finger CCCH domain-containing protein 14 APPROVED protein-coding HGNC:20509 13348 613279 VALIDATED 1349237 ZC4H2 zinc finger, C4H2 domain containing This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] X X X q11.2 64483059 64601403 - 64135682 64254624 - 64915802 65034744 - 6480464;7240710;8699517;8554872 10574461;12097419;12477932;14702039;15342556;15489334;15772651;16189514;16344560;17210253;17474147;19132878;20932654;21668950;23623388;24250222;24722188;8125298 55906 Q9NQZ6 AB032992;ABBA01066949;ABBA01066950;ABBA01066951;ABBA01066952;ABBA01066953;ABBA01066954;ABBA01066955;ABBA01066956;ABBA01066957;ABBA01066958;ABBA01066959;ABBA01066960;ABBA01066961;ABBA01066962;ABBA01066963;ABBA01066964;ABBA01066965;ABBA01066966;ABBA01066967;AF270491;AK001547;AK022807;AK022918;AK123763;AK222708;AK293570;AK315485;AL355606;AMYH02039602;AX879795;BC004411;BI770655;BP376634;CH471132;CX782941;DA037517;KF459134;NG_021200;NM_001178032;NM_001178033;NM_001243804;NM_018684;NR_045044 AAF75787;AAH04411;ADZ16079;BAA86480;BAB14252;BAB14308;BAD96428;BAG37869;BAG53957;BAG57041;CAE90665;EAX05408;EAX05409;NP_001171503;NP_001171504;NP_001230733;NP_061154;Q9NQZ6 Hs.28249 1776742;2122187;5093222 A009J37;G32592;UniSTS:14125 HCA127;KIAA1166;WRWF;WWS OTTHUMP00000023432;OTTHUMP00000023433;hepatocellular carcinoma-associated antigen 127;zinc finger C4H2 domain-containing protein APPROVED protein-coding ENSG00000126970 HGNC:24931 06584 300897;314580 REVIEWED 1316321 ZC3H4 zinc finger CCCH-type containing 4 This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011] 19 19 19 q13.32 44371326 44420889 - 47567444 47617009 - 47064187 47113752 - 6480464;8554872 10470851;11554449;12168954;14702039;15146197;15302935;15718139;15963892;16964243;17081983;19596686;20360068;20935630;22939629;23251661;24457600;24816145 23211 M0QY97;Q9UPT8 AB028987;ABBA01041002;ABBA01041003;AC008755;AK074282;AK125279;AL050155;AMYH02036244;AW603637;CN300565;NG_027798;NM_015168;XM_005258676;XM_005258677;XM_005258678;XM_006723113 BAA83016;CAB43296;NP_055983;Q9UPT8;XP_005258733;XP_005258734;XP_005258735;XP_006723176 Hs.104661 1683521;1703882;1720557;1778832;2137599 G59232;RH16434;RH48410;RH92750;SHGC-83586 C19orf7;KIAA1064 zinc finger CCCH domain-containing protein 4 APPROVED protein-coding ENSG00000130749 HGNC:17808 VALIDATED 1347342 ZC3HC1 zinc finger, C3HC-type containing 1 This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires the interaction of the proteins cyclin B1 and cyclin-dependent kinase 1. The activated ubiquitin ligase complex targets the protein cyclin B1 for degradation, preventing this transition to mitosis. [provided by RefSeq, Aug 2013] 7 7 7 q32.2 124453864 124486984 - 129658126 129691233 - 130018286 130051451 - 737633;6480464 12477932 10737800;11042152;11076863;11256614;12748172;12853948;14702039;15489334;15489336;16009132;16105984;16344560;16381901;16964243;17081983;17389604;18029348;21139048;21378990;21832049;21900206;21906983;22205987;22505724;22863883;22955283;24262325;24286297;24816145 51530 C9J0I9;C9J672;F8WAU5;F8WBD7;F8WDK5;F8WF13;Q86WB0;Q9BWJ8 ABBA01057601;ABBA01057602;ABBA01057603;ABBA01057604;ABBA01057605;ABBA01057606;AC073320;AC087071;AF151050;AJ537494;AK001317;AK022373;AMYH02016746;AMYH02016747;AMYH02016748;AMYH02016749;AX876485;BC000190;BC011551;BC028917;BF745935;BI830062;BM013594;BX490781;CH236950;CH471070;DA066102;NM_001282190;NM_001282191;NM_016478;XM_005250403 AAF36136;AAH00190;AAH11551;AAH28917;AAS07546;AAS07547;BAA91619;BAB14024;CAD61161;CAE89297;CAL38293;EAL24097;EAW83738;EAW83739;EAW83740;EAW83741;EAW83742;EAW83743;NP_001269119;NP_001269120;NP_057562;Q86WB0;XP_005250460 Hs.194157 1700634;2114520;2171508;2184468;2219182;5092992;5094881 A009D40;G32457;NIPA__6055;RH103940;RH12411;RH69855;ZC3HC1 1110054L24Rik;FBXO50;HSPC216;NIPA OTTHUMP00000212327;OTTHUMP00000212328;OTTHUMP00000212330;hNIPA;hematopoietic stem/progenitor cell protein 216;nuclear interacting partner of anaplastic lymphoma kinase (ALK);nuclear interaction partner of ALK;nuclear-interacting partner of ALK;nuclear-interacting partner of anaplastic lymphoma kinase;zinc finger C3HC-type protein 1;zinc finger, C3HC type 1 protein-coding ENSG00000091732 HGNC:29913 REVIEWED 1317755 ZCCHC10 zinc finger, CCHC domain containing 10 ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); INTERACTS WITH all-trans-retinoic acid; cobalt dichloride; coumestrol 5 5 5 q31.1 128462702 128492173 - 132332677 132362275 - 132996985 133026583 - 737633;1580863;6480464 12477932 14702039;15489334;16169070;16189514;17207965;22365833 54819 B3KVL5;D6R9G7;D6RHC2;D6RIV3;G3XAM1;Q8TBK6 ABBA01068786;ABBA01068787;AC113410;AF086446;AK000101;AK122970;AK300543;AMYH02012221;AMYH02012222;AMYH02012223;BC005211;BC015986;BC022443;BG699335;BM470321;BU165290;CB112418;CH471062;DA466245;NM_001300816;NM_001300817;NM_001300818;NM_001300819;NM_001300822;NM_001300825;NM_017665;NR_125337;XM_005272024;XM_005272025;XM_005272026;XM_005272027 AAH05211;AAH22443;ADQ32238;BAA90946;BAG53827;BAG62251;EAW62296;EAW62297;EAW62298;EAW62299;EAW62300;NP_001287745;NP_001287746;NP_001287747;NP_001287748;NP_001287751;NP_001287754;NP_060135;Q8TBK6;XP_005272081;XP_005272082;XP_005272083;XP_005272084 Hs.29700 1780618;5124643 RH66003;bac51420T FLJ20094 OTTHUMP00000159263;OTTHUMP00000222568;OTTHUMP00000222569;OTTHUMP00000222570;OTTHUMP00000222572;OTTHUMP00000222573;zinc finger CCHC domain-containing protein 10 protein-coding ENSG00000155329 HGNC:25954 15699 VALIDATED 1342670 ZCCHC12 zinc finger, CCHC domain containing 12 ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid X X X q24 118412636 118415780 + 117957787 117960931 + 118823824 118826968 + 737633;6480464;8554872 12477932 14702039;15489334;16189514;16524884;17207965;18160706;18798319;19416967;19578717;21139048;21739307;21832049;21906983 170261 Q6PEW1 ABBA01036751;ABBA01036752;AC006965;AK122676;AMYH02040321;BC018066;BC031241;BC033958;BC036572;BC057841;CH471161;NM_173798 AAH31241;AAH36572;AAH57841;ADQ32984;BAG53660;EAW89892;NP_776159;Q6PEW1 Hs.21417 1690844;1702964;2154492 DXS7040E;RH81071;WI-21204 FLJ16123;PNMA7A;SIZN;SIZN1 2810028A01Rik;OTTHUMP00000023892;paraneoplastic Ma antigen family member 7A;smad-interacting zinc finger protein 1;zinc finger CCHC domain-containing protein 12 protein-coding ENSG00000174460 HGNC:27273 06616 300701 PROVISIONAL 1601938 ZC3HAV1L zinc finger CCCH-type, antiviral 1-like INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; atrazine 7 7 7 q34 133448242 133458565 - 138710452 138720775 - 139025706 139036029 - 6480464 12477932;12938929;19953087;20811636;21139048;21628590;21832049;22118674;22939629;23273016;24457600 92092 Q96H79 ABBA01001182;AC083868;AMYH02016879;BC008842;BC020784;CH236950;CH471070;NM_080660;XM_005250692;XM_006716176 AAH08842;AAH20784;EAW83900;NP_542391;Q96H79;XP_005250749;XP_006716239 Hs.512833;Hs.659143 2157530;5014063;5022651 D11S2921;D15S1390;RH65923 C7orf39;MGC14289 OTTHUMP00000211808;zinc finger CCCH-type antiviral protein 1-like protein-coding ENSG00000146858 HGNC:22423 14440 VALIDATED 1346047 ZCCHC13 zinc finger, CCHC domain containing 13 This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 3. However, the CDS of this intronless gene remains relatively intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. The encoded protein contains six CCHC-type zinc fingers, and is thus thought to function as a transcription factor. [provided by RefSeq, May 2010] X X X q13.2 73807493 73808337 + 73524025 73524869 + 74304190 74305034 + 1580863;6480464 12045143;12477932;15489334;15961456;16713569;18312684 389874 Q8WW36 ABBA01059582;AC004386;AMYH02039776;BC021176;BX109166;CH471104;HC044691;NG_021228;NM_203303 AAH21176;ABZ92476;ACE86623;ACE87304;CBH30675;EAW98646;EAW98647;NP_976048;Q8WW36 Hs.157231 Cnbp2;ZNF9L OTTHUMP00000023572;cellular nucleic acid binding protein-like;zinc finger CCHC domain-containing protein 13 APPROVED protein-coding ENSG00000187969 HGNC:31749 10050 REVIEWED 1349569 ZCCHC14 zinc finger, CCHC domain containing 14 ENCODES a protein that exhibits nucleic acid binding (inferred); phosphatidylinositol binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; all-trans-retinoic acid 16 16 16 q24.2 71736619 71822230 - 87439852 87525870 - 87406246 87492263 - 737633;1580863;6480464;8554872 12477932 12168954;15146197;16189514;16344560;19322201;19460752;21988832;22472876;23824909;9628581 23174 H3BS18;Q8WYQ9 AB011151;AB030243;ABBA01034330;ABBA01034331;ABBA01034332;AC010531;AC092720;AC105429;AK289682;AL117532;AMYH02032615;BC028304;BC038944;BC101478;CH471114;CN352228;DB038312;NM_015144;XM_005255858;XR_243401 AAI01479;BAA25505;BAB83129;BAF82371;CAB55981;EAW95388;EAW95389;EAW95390;EAW95391;NP_055959;Q8WYQ9;XP_005255915 Hs.156231 1704718;2114655;2172021;5106373 RH48496;SHGC-61175;SHGC-79020;STS-Z40721 BDG-29;BDG29;MGC126527;MGC14139 OTTHUMP00000175010;zinc finger CCHC domain-containing protein 14 protein-coding ENSG00000140948 HGNC:24134 18316 VALIDATED 1603494 ZCCHC16 zinc finger, CCHC domain containing 16 ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) X X X q23 111805763 112184591 + 111326253 111700473 + 112083025 112457245 + 8554872 12477932;14702039;15716091;16093683;18029348;19260141 340595 Q6ZR62 ABBA01043174;ABBA01043175;ABBA01043176;ABBA01043177;ABBA01043178;ABBA01043179;ABBA01043180;ABBA01043181;ABBA01043182;ABBA01043183;ABBA01043184;ABBA01043185;ABBA01043186;ABBA01043187;ABBA01043188;ABBA01043189;ABBA01043190;ABBA01043191;ABBA01043192;ABBA01043193;ABBA01043194;ABBA01043195;ABBA01043196;ABBA01043197;ABBA01043198;ABBA01043199;ABBA01043200;ABBA01043201;ABBA01043202;ABBA01043203;ABBA01043204;ABBA01043205;ABBA01043206;ABBA01043207;ABBA01043208;ABBA01043209;ABBA01043210;ABBA01043211;ABBA01043212;ABBA01043213;ABBA01043214;ABBA01043215;ABBA01043216;ABBA01043217;ABBA01043218;ABBA01043219;ABBA01043220;ABBA01043221;ABBA01043222;ABBA01043223;ABBA01043224;ABBA01043225;ABBA01043226;AK128465;AL031176;AL031223;AL031388;AL392112;AL929583;AMYH02040240;AMYH02040241;AMYH02040242;AMYH02040243;AMYH02040244;BC137430;BC137433;BX088563;BX119929;KF459305;NM_001004308 AAI37431;AAI37434;BAC87453;NP_001004308;Q6ZR62 Hs.368140 1337304;1340778;1645442;1650926;1667133;1691540;1691556;1727799;1775885;1787414;1852436;1856781;2117114;2117116;2154572;2157454;2162889;2169301;2181395;2183895;7187401 A006C05;AL008893;AL021629;AL031553;AL031567;AL032556;AL032613;DXS1059;DXS7299;DXS7360;DXS7369;DXS7801;DXS8021;DXS8375;G20691;G63165;RH47718;SHGC-81698;WI-10731;WI-18604 FLJ46608;Mar4;Mart4 mammalian retrotransposon-derived protein 4;zinc finger CCHC domain-containing protein 16 protein-coding HGNC:25214 17003 VALIDATED 2291777 ZCCHC18 zinc finger, CCHC domain containing 18 ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; progesterone X X X q22.2 103831726 103835152 + 103357107 103360533 + 104112526 104115847 + 6480464 15146197;15772651;16344560;22340173 644353 P0CG32 ABBA01019075;AC234783;AF086548;AI656548;AMYH02040176;CN272796;DA166381;DA503483;DA781887;DA790216;DA808943;NM_001143978;NR_026694;Z82254 NP_001137450;P0CG32 Hs.648338 1671995;1672758;1688823;1701170;1754643;1854656;2121201;2150931;2163099 L77846;L77847;RH104213;RH69847;RH79967;SGC33118;SGC34091;SHGC-132991;SHGC-58402 PNMA7B;Sizn2 Putative zinc finger CCHC domain-containing protein 18;paraneoplastic Ma antigen family member 7B;zinc finger, CCHC domain containing 12 pseudogene 1;zinc finger, CCHC domain containing 18 pseudogene protein-coding ENSG00000166707 HGNC:32459 VALIDATED 1604815 ZCCHC17 zinc finger, CCHC domain containing 17 ENCODES a protein that exhibits poly(A) RNA binding; FOUND IN cytosolic large ribosomal subunit (inferred); nucleolus (inferred); INTERACTS WITH 2-methylcholine; diazinon; pirinixic acid 1 1 1 p35.2 30026341 30094350 + 31769832 31838569 + 31296982 31365722 + 6480464 11042152;12202495;12477932;12893261;14702039;15489334;16189514;16710414;18854154;19471022;21078624;21832049;23455491;23455924;24163370 51538 B4DYA9;E7EPF0;Q9NP64 ABBA01023469;AF151077;AF151085;AF247661;AK001929;AK022506;AK024049;AK302248;AK302343;AK307478;AL451070;AMYH02000678;AMYH02000679;AX877842;AX879219;AX881170;BC000685;BC007446;BC050609;BF309574;BP309837;BP371153;CH471059;CN423139;DA737244;DC366453;NM_001282566;NM_001282567;NM_001282568;NM_001282569;NM_001282570;NM_001282571;NM_001282572;NM_001282573;NM_001282574;NM_016505;XM_006710681;XM_006710682 AAF36163;AAF36171;AAF72518;AAH00685;AAH07446;AAH50609;ABM84172;ABM87574;BAA91984;BAB14066;BAB14799;BAG63600;BAG63671;CAE89901;CAE90415;CAE91240;EAX07620;EAX07621;EAX07622;EAX07623;EAX07624;EAX07625;NP_001269495;NP_001269496;NP_001269497;NP_001269498;NP_001269499;NP_001269500;NP_001269501;NP_001269502;NP_001269503;NP_057589;Q9NP64;XP_006710744;XP_006710745 Hs.524094 1674563;1733100;1756193 D1S1430;SHGC-143051;SHGC-74490 HSPC251;PS1D;RP11-266K22.1;pNO40 OTTHUMP00000003890;OTTHUMP00000003891;nucleolar protein 40;nucleolar protein of 40 kDa;pnn-interacting nucleolar protein;putative S1 RNA binding domain protein;putative S1 RNA-binding domain protein;zinc finger CCHC domain-containing protein 17 protein-coding ENSG00000121766 HGNC:30246 15189 VALIDATED 1343061 ZCCHC2 zinc finger, CCHC domain containing 2 ENCODES a protein that exhibits nucleic acid binding (inferred); phosphatidylinositol binding (inferred); zinc ion binding (inferred); FOUND IN cytoplasm; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3-methylcholanthrene 18 18 18 q21.33 56910014 56965120 + 60190658 60254942 + 62523425 62587709 + 1580863;6480464 10737800;11076863;11214970;11230166;11256614;12477932;12975309;14702039;15489336;16381901;17081983;21890473;23022100;8889548 54877 K7EKB8;K7ERQ9;K7ESN2;Q9BRD4;Q9C0B9 AA903206;AB051531;ABBA01056195;AC064801;AK000288;AK098132;AMYH02034869;AMYH02034870;BC006340;BC137435;BI023990;BU675299;BX485381;CD365705;CH471096;DN997998;NM_017742;XM_006722493;XM_006722494;XR_245462;XR_430076 AAH06340;AAI37436;BAA91057;BAB21835;BAG53581;CAL38351;EAW63126;EAW63127;EAW63128;NP_060212;Q9C0B9;XP_006722556;XP_006722557 Hs.114191;Hs.714637 1655901;1682317;1731733;2121514;2143140;2160640;5093806 A009X09;D18S507;G32935;RH70477;RH91360;SHGC-33768;STS-N54297 C18orf49;DKFZp451A185;FLJ20281;KIAA1744;MGC13269 zinc finger CCHC domain-containing protein 2 protein-coding ENSG00000141664 HGNC:22916 11696 VALIDATED 1314625 ZCCHC24 zinc finger, CCHC domain containing 24 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; copper(2+) sulfate 10 10 10 q22.3 74428216 74491539 - 81142081 81205383 - 79382325 79445627 - 737633;6480464;8554872 12477932 14702039;15164054;15489334;16385451;17081983;20379614;21103663;24159190 219654 Q5W133;Q8N2G6 ABBA01020210;AK024784;AK075279;AK293361;AK303734;AK308876;AL049949;AL133481;AMYH02023398;AMYH02023399;AMYH02023400;BC016959;BC028617;BC032450;BC039249;BC053564;BX648607;CH471083;CQ783407;NM_153367;XM_005269604 AAH28617;AAH39249;AAH53564;ADZ15987;BAC11516;BAG56877;BAG64708;CAF86612;EAW54649;EAW54650;NP_699198;Q8N2G6;XP_005269661 Hs.523080 1335142;1649935;1701056;1730986;1739377;2118420;2163677;2172236;2181668 A004Y13;A006U24;D10S1550E;D10S1777;D10S314;RH104155;STS-AA040726;STS-Z41445;WI-12518 C10orf56;FLJ90798;Z3CXXC8 OTTHUMP00000019923;OTTHUMP00000019924;zinc finger CCHC domain-containing protein 24;zinc finger, 3CxxC-type 8 protein-coding ENSG00000165424 HGNC:26911 08299 VALIDATED 1320865 ZCCHC11 zinc finger, CCHC domain containing 11 ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011] 1 1 1 p32.3 51175645 51305459 - 52888947 53018764 - 52423275 52553099 - 6480464;8554872 12239557;12477932;14702039;15489334;16344560;16643855;16710414;18029348;18172165;19056867;19322201;19701194;19703396;19913121;20379614;20628086;21145461;21150319;21890473;21906983;22006926;22898984;23063654;24816145;8724849 23318 E9PJN7;E9PKX1;E9PKY2;E9PQS7;E9PRG2;H0YCX5;H0YDJ1;H0YDZ6;H0YEE8;H0YEY0;H0YF28;Q5TAX3;X6R5G7 ABBA01074769;ABBA01074770;ABBA01074771;ABBA01074772;ABBA01074773;ABBA01074774;AK025698;AK095733;AK124868;AK307579;AK308427;AL138849;AL591167;AMYH02001018;AMYH02001019;AMYH02001020;BC012047;BC018753;BC035820;BC048301;BC131734;BX439159;BX648248;BX648783;BX649065;CH471059;D83776;DA748708;KF495951;NM_001009881;NM_015269;R60512;XM_005270676;XM_005270678;XM_005270679;XM_005270680;XM_005270681;XM_005270682;XM_005270683;XM_005270684;XM_005270685;XM_006710498;XM_006710499;XM_006710500 AAI31735;BAA12105;EAX06778;EAX06780;NP_001009881;NP_056084;Q5TAX3;XP_005270733;XP_005270735;XP_005270736;XP_005270737;XP_005270738;XP_005270739;XP_005270740;XP_005270741;XP_005270742;XP_006710561;XP_006710562;XP_006710563 Hs.655407 1671797;1720403;1770307;2115812;2128831;2173373;2218656;5015961;5022322;5022578;5037552 AL009951;D11S2560;D15S1477;D1S1423;D8S2279;G16320;G59004;RH25404;SHGC-35033;SHGC-74827;ZCCHC11__4928 DKFZp779C1943;FLJ42878;PAPD3;TUT4 OTTHUMP00000009913;OTTHUMP00000231835;OTTHUMP00000231840;OTTHUMP00000231841;PAP associated domain containing 3;TUTase 4;terminal uridylyltransferase 4;zinc finger CCHC domain-containing protein 11 APPROVED protein-coding ENSG00000134744 HGNC:28981 15700 613692 VALIDATED 1352502 ZCCHC3 zinc finger, CCHC domain containing 3 ENCODES a protein that exhibits poly(A) RNA binding; INTERACTS WITH (-)-epigallocatechin 3-gallate; methyl methanesulfonate; potassium chromate 20 20 20 p13-p12.2 373047 375805 + 278204 280965 + 297563 300321 + 1580863;6480464 11780052;12477932;15489334;15592455;17370265;19322201;21139048;21145461;21282530;22586326;22797925;24457600;24778252;24816145 85364 Q9NUD5 ABBA01053745;AK025768;AL034548;AMYH02036546;BC020460;BC036469;BC069238;BC107584;CH471133;KF495703;NM_033089 AAH69238;AAI07585;EAX10684;NP_149080;Q9NUD5 Hs.28608;Hs.603608 1645681;1703230;1770226;1773842;2132265 HUMHM02E01;SGC31957;SGC34218;WI-15102;WIAF-1720 C20orf99;MGC104290 OTTHUMP00000029913;zinc finger CCHC domain-containing protein 3 protein-coding ENSG00000247315 HGNC:16230 15701 VALIDATED 1322864 ZCCHC4 zinc finger, CCHC domain containing 4 ENCODES a protein that exhibits methyltransferase activity (inferred); nucleic acid binding (inferred); zinc ion binding (inferred); INVOLVED IN methylation (inferred); INTERACTS WITH 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog); paracetamol (ortholog) 4 4 4 p15.2 25763095 25820709 + 25314396 25374190 + 25312774 25370383 + 1580863;6480464 11042152;12477932;14702039;15225602;15489334;17081983 29063 H0Y8V8;Q9H5U6 ABBA01032695;ABBA01032696;AC108218;AF161537;AK026677;AK299211;AK309675;AMYH02008911;AY629351;BC016914;BC157834;BC171821;BG719159;CH471069;NM_024936;XM_005248155;XM_005248156;XM_005248157 AAF29024;AAH16914;AAI57835;AAI71821;AAV41218;BAB15524;BAG61250;EAW92837;NP_079212;Q9H5U6;XP_005248212;XP_005248213;XP_005248214 Hs.278945 1646232;1650451;1749965;1769994;5015619;5024039;5037552 D11S3114;D16S325;D4S2705;D8S2279;G33686;SHGC-111674;STS-R91167 HSPC052;MGC21108;ZGRF4 DHHC domain-containing zinc finger protein;OTTHUMP00000218482;OTTHUMP00000218484;zinc finger CCHC domain-containing protein 4;zinc finger, GRF-type containing 4 protein-coding ENSG00000168228 HGNC:22917 611792 VALIDATED 1346934 ZCCHC5 zinc finger, CCHC domain containing 5 This gene is a member of a family of gag-related retrotransposon genes. These genes appear to have lost the ability to retrotranspose; however, their open reading frames have remained intact, which may indicate that these genes have acquired new functions in the cell. [provided by RefSeq, Nov 2009] X X X q21.1 78152142 78155399 - 77911566 77914825 - 78656069 78659328 - 1580863;6480464;8554872 12477932;14702039;15716091;15772651;16093683 203430 Q8N8U3 ABBA01030126;AI091777;AK096184;AL662885;AMYH02039830;BC136548;BC136549;CH471104;NG_015973;NM_152694 AAI36549;AAI36550;BAC04719;EAW98597;NP_689907;Q8N8U3 Hs.134873 5493069;5493731 UniSTS:484135;UniSTS:494432 FLJ38865;Mar3;Mart3;ZHC5 OTTHUMP00000023597;mammalian retrotransposon-derived 3;zinc finger CCHC domain-containing protein 5 APPROVED protein-coding ENSG00000179300 HGNC:22997 06756 REVIEWED 1321384 ZCCHC7 zinc finger, CCHC domain containing 7 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; nucleus; INTERACTS WITH 2-methylcholine; all-trans-retinoic acid; benzo[a]pyrene 9 9 9 p13.2 37053823 37291368 + 37120161 37358146 + 37120164 37358149 + 737633;1580863;6480464;8554872 12477932 14702039;15164053;15231748;15342556;15489334;16524884;18029348;19322201;19586940;20467438;21878619;21906983;23503679;24250222 84186 B4E024;Q05DN1;Q8N3Z6;X6R4A7 ABBA01050399;ABBA01050400;ABBA01050401;ABBA01050402;ABBA01050403;ABBA01050404;ABBA01050405;ABBA01050406;ABBA01050407;AF161349;AI458621;AK026264;AK074608;AK303193;AK315128;AL158155;AL358118;AL512604;AMYH02019483;AMYH02019484;AMYH02019485;AMYH02019486;AMYH02019487;AMYH02019488;AMYH02019489;AMYH02019490;AMYH02019491;AMYH02019492;AMYH02019493;BC005990;BC022434;BC034022;BC036940;BP216150;BP246540;CH471071;NM_001289119;NM_001289120;NM_001289121;NM_032226;NR_110317;XM_005251608;XM_005251609;XM_005251611;XM_005251612 AAF28909;AAH05990;AAH22434;AAH36940;ADR82669;BAB15418;BAC11087;BAG37581;BAG64286;EAW58288;EAW58289;EAW58290;EAW58291;NP_001276048;NP_001276049;NP_001276050;NP_115602;Q8N3Z6;XP_005251665;XP_005251666;XP_005251668;XP_005251669 Hs.654700 1299940;1644259;1686748;1713581;1715857;1738259;1738269;2143430;2152309;2164445;2164723;2171930;5093776 A008X03;A009W22;BCD1429;D9S1219;D9S1225;D9S1874;D9S786;G32916;RH119623;RH120286;RH16516;RH45215;RH46563 AIR1;FLJ22611;HSPC086;RP11-397D12.1 OTTHUMP00000021383;TRAMP-like complex RNA-binding factor ZCCHC7;zinc finger CCHC domain-containing protein 7 protein-coding ENSG00000147905 HGNC:26209 15703 VALIDATED 1344359 ZCCHC6 zinc finger, CCHC domain containing 6 ENCODES a protein that exhibits poly(A) RNA binding; RNA uridylyltransferase activity; INVOLVED IN RNA 3'-end processing; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; clorgyline; copper(2+) sulfate 9 9 9 q21 59472766 59539516 - 88902648 88969402 - 86287733 86354487 - 737633;6480464;8554872 12477932 11076863;11214970;11230166;14702039;15164053;15489334;15489336;16381901;17353264;18172165;20881960;21139048;21832049;22505724;22586326;22898984;22939629;23063654;24816145;8889548 79670 Q5VYS8;Q5VYS9;Q5VYT0;Q96KX5;X6R3Q3 AB051498;ABBA01016309;ABBA01016310;AK023471;AK055546;AK055948;AK058021;AL137849;AL353678;AL832026;AL832193;AL832965;AL832988;AMYH02021154;BC015897;BC016387;BC032456;BC111003;BC144523;BU734789;BX641077;CA773862;CH471089;CR933643;CR933644;CR936608;DC377509;HI574282;NM_001185059;NM_001185074;NM_024617;XM_005252207;XM_005252208;XM_005252209;XM_006717283;XM_006717284;XM_006717285;XM_006717286 AAH16387;AAH32456;BAB14584;BAB21802;BAB70951;BAB71052;CAE46038;CAH56214;CAH56219;CAI45944;CAI45945;CAI56753;CAL37899;CAL38400;CBX47630;EAW62714;EAW62715;EAW62716;EAW62717;EAW62718;NP_001171988;NP_001172003;NP_078893;Q5VYS8;XP_005252264;XP_005252265;XP_005252266;XP_006717346;XP_006717347;XP_006717348;XP_006717349 Hs.597057 1656871;1698418;1725331;1850390;2166137;2168325;5093784 A009W34;G32922;RH102753;RH118983;RH41959;STS-D20387;STS-F09563 DKFZp666B142;DKFZp686C11112;DKFZp686F119;DKFZp686I1269;PAPD6;TUT7 OTTHUMP00000021593;OTTHUMP00000021596;PAP associated domain containing 6;TUTase 7;terminal uridylyltransferase 7;zinc finger CCHC domain-containing protein 6 protein-coding ENSG00000083223 HGNC:25817 11697 VALIDATED 1316648 ZCCHC9 zinc finger, CCHC domain containing 9 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN negative regulation of phosphatase activity; INTERACTS WITH (-)-epigallocatechin 3-gallate; (S)-nicotine; 2-methylcholine 5 5 5 q14.1 76501670 76513252 + 80597402 80608966 + 81301583 81313147 + 737633;1580863;6480464 12477932 15146197;15489334;15635413;16712791;19389623 84240 Q8N567 ABBA01062054;AC008411;AI961614;AK314160;AL512712;AMYH02011680;AMYH02011681;BC014841;BC022799;BC032736;BG776648;CB126982;CH471084;CN261947;NM_001131035;NM_001131036;NM_032280;XM_005248616 AAH32736;BAG36844;CAC21654;EAW95870;EAW95871;EAW95872;EAW95873;NP_001124507;NP_001124508;NP_115656;Q8N567;XP_005248673 Hs.15536 1654597;1673273;5016596;5037552;5494067 D8S2279;DKFZp761J139;G09206;GDB:631802;WI-20867 DKFZp761J139;PPP1R41 OTTHUMP00000147543;OTTHUMP00000147544;OTTHUMP00000222348;OTTHUMP00000222349;protein phosphatase 1, regulatory subunit 41;zinc finger CCHC domain-containing protein 9 protein-coding ENSG00000131732 HGNC:25424 15704 VALIDATED 1604568 ZCRB1 zinc finger CCHC-type and RNA binding motif 1 Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008] 12 12 12 q12 41507709 41521753 - 42705888 42719932 - 42312086 42326130 - 6480464;8554872 12477932;15146077;15489334;16959469;17081983;19322201;21139048;22362731;22939629 85437 F8VXY6;G3V1V1;Q8TBF4 AB062361;ABBA01031404;AC079684;AK308244;AMYH02026359;BC005099;BC010177;BC022543;BI666919;BK005200;CH471111;NM_033114 AAH05099;AAH10177;AAH22543;ABM83017;ABM86210;BAB56132;DAA05498;EAW57842;EAW57843;EAW57844;NP_149105;Q8TBF4 Hs.496279 1695342;2176644;5127713 SHGC-64084;SHGC-64773;STS-N26725 MADP-1;MADP1;MGC26805;RBM36;SNRNP31;ZCCHC19 OTTHUMP00000240972;OTTHUMP00000240973;U11/U12 small nuclear ribonucleoprotein 31 kDa protein;U11/U12 snRNP 31 kDa protein;U11/U12 snRNP 31K;U11/U12-31K;zinc finger CCHC-type and RNA-binding motif-containing protein 1 APPROVED protein-coding ENSG00000139168 HGNC:29620 14344 610750 REVIEWED 1347606 ZCWPW2 zinc finger, CW type with PWWP domain 2 ENCODES a protein that exhibits zinc ion binding (inferred); INTERACTS WITH (+)-catechin; bisphenol A (ortholog); rosiglitazone (ortholog) 3 3 3 p24.1 28368439 28503337 + 28390372 28566633 + 28348948 28525142 + 6480464 12477932;12600744;14607086;23314748 152098 C9JFK0;H7C087;H7C0K4;H7C0L9;Q504Y3 AB087877;ABBA01024976;ABBA01024977;AC093142;AC098616;AJ519236;AMYH02006457;AMYH02006458;AMYH02006459;AMYH02006460;BC065764;BC094696;CH471055;KF457617;NM_001040432;XM_005264892;XM_005264893;XM_006712993;XR_245097;XR_427253;XR_427254 AAH94696;BAC55088;CAD60297;EAW64399;NP_001035522;Q504Y3;XP_005264949;XP_005264950;XP_006713056 Hs.510635;Hs.539824;Hs.659030 1737919;1850187 D11S3526;D3S2350 ZCW2 OTTHUMP00000208511;OTTHUMP00000208512;zinc finger CW-type PWWP domain protein 2 protein-coding ENSG00000206559 HGNC:23574 PROVISIONAL 1605970 ZDBF2 zinc finger, DBF-type containing 2 ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH cyclosporin A; dioxygen; methyl methanesulfonate 2 2 2 q33.3 200901474 200941000 + 207139523 207179162 + 206274641 206314438 + 6480464;8554872 10997877;14702039;19200453;21890473;22688191;23080069;23667531;23764515 57683 N0DVB2;N0DVX5;Q9HCK1 AB046791;AB775780;AB775781;ABBA01062655;ABBA01062656;AC017081;AK024339;AK127271;AK130893;AMYH02005628;BQ021839;NM_001285549;NM_020923;XM_005246711;XM_005246712;XM_005246713;XM_006712656;XM_006712657;XM_006712658 BAB13397;BAC85454;BAN18187;BAN18188;NP_001272478;NP_065974;Q9HCK1;XP_005246768;XP_005246769;XP_005246770;XP_006712719;XP_006712720;XP_006712721 Hs.110489 1693926;5022651;5037552 D11S2921;D8S2279;G42654 FLJ45338;KIAA1571 DBF4-type zinc finger-containing protein 2;OTTHUMP00000206348;zinc finger DBF-type containing 2 vesion 1;zinc finger DBF-type containing 2 vesion 2 protein-coding ENSG00000204186 HGNC:29313 VALIDATED 1351702 ZDHHC10 zinc finger, DHHC domain containing 10 93950 HGNC:15978 1348828 ZDHHC1 zinc finger, DHHC-type containing 1 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN protein palmitoylation; ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; extracellular vesicular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); trimellitic anhydride (ortholog) 16 16 16 q22.1 51936522 51958539 - 67428322 67450339 - 67394419 67416436 - 1580863;6480464;8554872 10395086;12477932;15489334;16647879;19056867;20549515;21906983;23687301 29800 I3L202;Q8WTX9 ABBA01025435;ABBA01025436;AC009061;AK307155;AMYH02032232;BC021908;BC045169;CA432496;CH471092;NM_013304;U90653;XM_005255914;XM_005255915;XM_006721185 AAB86591;AAH21908;EAW83132;EAW83133;NP_037436;Q8WTX9;XP_005255971;XP_005255972;XP_006721248 Hs.624541;Hs.658333 C16orf1;DHHC-1;HSU90653;ZNF377 DHHC domain-containing cysteine-rich protein 1;DHHC-domain-containing cysteine-rich protein;OTTHUMP00000174819;probable palmitoyltransferase ZDHHC1;zinc finger DHHC domain-containing protein 1;zinc finger protein 377;zinc finger, DHHC domain containing 1 protein-coding ENSG00000159714 HGNC:17916 15707 VALIDATED 1602781 ZDHHC11B zinc finger, DHHC-type containing 11B ENCODES a protein that exhibits protein-cysteine S-palmitoyltransferase activity (inferred); zinc ion binding (inferred); INVOLVED IN metabolic process (inferred); FOUND IN integral component of membrane (inferred) 5 5 p15.33 710470 784857 - 710355 784742 - 15372022 653082 F5H7P5;P0C7U3 ABBA01034240;ABBA01034241;ABBA01034242;ABBA01034243;ABBA01034244;AC026740;AMYH02010756;AMYH02010757;XM_003118532;XM_006710165;XM_006726417 P0C7U3;XP_003118580;XP_006710228;XP_006726480 1689552;1740451;2162603 A008P27;D5S2254E;RH91350 DHHC-11B OTTHUMP00000239654;Probable palmitoyltransferase ZDHHC11B;Zinc finger DHHC domain-containing protein 11B protein-coding HGNC:32962 MODEL 1343630 ZDHHC11 zinc finger, DHHC-type containing 11 ENCODES a protein that exhibits protein-cysteine S-palmitoyltransferase activity (inferred); zinc ion binding (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH 1-nitropyrene; all-trans-retinoic acid; benzo[a]pyrene 5 5 5 p15.33 4577 11091 + 795720 859088 - 795605 858973 - 1580863;6480464;8554872 12477932;12975309;14702039;15489334;16647879;18025801;20379614;23687301 79844 D6RE92;H0Y9D0;Q9H8X9 ABBA01034227;ABBA01034228;ABBA01034229;ABBA01034230;ABBA01034231;ABBA01034232;ABBA01034233;ABBA01034234;ABBA01034235;ABBA01034236;AC010427;AC026740;AC122719;AF267859;AK023215;AK024233;AMYH02010757;AX882701;AY358673;BC032000;CH471304;NM_024786;XM_005248369;XM_005248370;XM_005248372;XM_006714499;XR_427665 AAG44728;AAH32000;AAQ89036;BAB14468;CAE91692;EAW52307;NP_079062;Q9H8X9;XP_005248426;XP_005248427;XP_005248429;XP_006714562 Hs.732788 1689552;1740451;2162603 A008P27;D5S2254E;RH91350 FLJ13153;ZNF399 DHHC-11;OTTHUMP00000115368;probable palmitoyltransferase ZDHHC11;zinc finger DHHC domain-containing protein 11;zinc finger protein 399;zinc finger, DHHC domain containing 11 protein-coding ENSG00000188818 HGNC:19158 15708 VALIDATED 1315298 ZDHHC12 zinc finger, DHHC-type containing 12 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN protein palmitoylation; FOUND IN endoplasmic reticulum; Golgi apparatus; INTERACTS WITH copper(2+) sulfate; cyclosporin A; phenobarbital 9 9 9 q34.11 102133934 102137194 - 131483148 131486451 - 128720869 128724129 - 1580863;6480464 12477932;14702039;15164053;15489334;16303743;16647879;17207965;20467438;21139048;21988832;23568457;24144296;24250222 84885 Q5T266;Q5T269;Q96GR4;X6RBN4 ABBA01043898;ABBA01043899;AK027430;AK075332;AK092843;AK315746;AL441992;AMYH02021724;BC009280;BC048251;BU506687;CH471090;NM_032799;XM_005252279 AAH09280;AAH48251;ADQ33049;BAB55104;BAC11553;BAG38100;EAW87826;EAW87827;EAW87828;NP_116188;Q96GR4;XP_005252336 Hs.133122 1655580;2109665 PKN3_9611;STS-N29855 FLJ14524;MGC13153;MGC54050;ZNF400 DHHC-12;OTTHUMP00000022288;OTTHUMP00000022289;OTTHUMP00000022290;OTTHUMP00000022291;OTTHUMP00000022292;probable palmitoyltransferase ZDHHC12;zinc finger DHHC domain-containing protein 12;zinc finger protein 400;zinc finger, DHHC domain containing 12 protein-coding ENSG00000160446 HGNC:19159 15709 VALIDATED 1320234 ZDHHC13 zinc finger, DHHC-type containing 13 ENCODES a protein that exhibits signal transducer activity; magnesium ion transmembrane transporter activity (ortholog); palmitoyltransferase activity (ortholog); INVOLVED IN positive regulation of I-kappaB kinase/NF-kappaB signaling; signal transduction; metabolic process (ortholog); FOUND IN endoplasmic reticulum; Golgi apparatus; intracellular membrane-bounded organelle; INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; disodium selenite 11 11 11 p15.1 19271160 19330447 + 19138681 19197967 + 19117145 19176420 + 1580863;6480464 12393793;12477932;12761501;14702039;15489334;16647879;18029348;18794299;19946888;21139048;21890473;21906983;22505724 54503 Q8IUH4 AB024495;AB097014;AB097027;ABBA01061038;AC009652;AK001714;AK001831;AK123539;AK291348;AL833714;AMYH02024404;BC036020;BC050690;BC056152;BX648156;CH471064;NM_001001483;NM_019028;XM_005252996 AAH36020;AAH50690;AAH56152;BAA91856;BAA91930;BAC22090;BAC77367;BAC77380;BAF84037;EAW68357;EAW68358;NP_001001483;NP_061901;Q8IUH4;XP_005253053 Hs.188569 1707416;1854996;2218658 SHGC-84498;WI-17833;ZDHHC13__4933 FLJ10852;FLJ10941;HIP14L;HIP3RP;MGC64994 DHHC-13;HIP14-like;HIP14-related protein;OTTHUMP00000231890;OTTHUMP00000231891;huntingtin interacting protein HIP3RP;huntingtin-interacting protein 14-related protein;huntingtin-interacting protein HIP3RP;palmitoyltransferase ZDHHC13;probable palmitoyltransferase ZDHHC13;putative MAPK-activating protein PM03;putative NF-kappa-B-activating protein 209;zinc finger DHHC domain-containing protein 13;zinc finger, DHHC domain containing 13 protein-coding ENSG00000177054 HGNC:18413 15710 612815 VALIDATED 1320291 ZCCHC8 zinc finger, CCHC domain containing 8 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA splicing, via spliceosome (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN catalytic step 2 spliceosome; nucleus; INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; cobalt dichloride 12 12 12 q24.31 122549115 122577860 - 122956146 122985543 - 122471599 122501073 - 737633;6480464;8554872 12477932 11991638;12154087;14702039;15231748;15302935;15489334;16263084;16344560;16964243;17525332;18029348;19156129;21139048;21145461;21832049;21890473;22586326;22939629;23602568;23667531;24255178;24332808;24457600;24778252;24816145 55596 F5GX80;F5GXQ6;F5GYI9;F5H6J5;F5H803;Q6NZY4 AA447641;ABBA01060462;ABBA01060463;ABBA01060464;ABBA01060465;AC127002;AK026831;AK027702;AK074638;AK291174;AK307318;AL157433;AMYH02027427;AMYH02027428;AX405793;BC017704;BC065918;BE048845;CH471054;DB048019;DB456426;LK938814;NM_017612;XM_005253581;XM_006719491;XM_006719492 AAH17704;AAH65918;BAB55308;BAC11105;BAF83863;CAB75657;CAD34900;EAW98325;EAW98326;NP_060082;Q6NZY4;XP_005253638;XP_006719554;XP_006719555 Hs.37706 1677939;2121618;2183057;5014740;5015619;5015961;5037552 D11S3114;D15S1477;D17S610;D8S2279;RH44605;RH92423;STS-H75490 DKFZp434E2220 TRAMP-like complex RNA-binding factor ZCCHC8;zinc finger CCHC domain-containing protein 8 protein-coding HGNC:25265 11698 VALIDATED 1313418 ZCWPW1 zinc finger, CW type with PWWP domain 1 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; elemental selenium 7 7 7 q22.1 94728294 94756101 - 99998449 100027037 - 100400826 100429414 - 1580863;6480464;8554872 11230166;12477932;14607086;14702039;15489334;20826339;24162737;24250222 55063 C9JUV7;H7C4V9;Q9H0M4 ABBA01013213;ABBA01013214;ABBA01013215;ABBA01013216;ABBA01013217;AC005071;AC092849;AK000919;AK093038;AK299989;AK300745;AK302108;AK316553;AL136735;AMYH02016379;BC002725;CH236956;CH471091;DB447154;DC413605;NM_001258008;NM_017984;XM_005250479;XM_005250480;XM_005250481;XM_006716035;XM_006716036;XM_006716037;XM_006716038;XM_006716039;XM_006716040 AAH02725;BAA91424;BAC04028;BAG61810;BAG62414;BAG63489;BAG65631;CAB66669;EAW76538;EAW76539;EAW76540;EAW76541;NP_001244937;NP_060454;Q9H0M4;XP_005250536;XP_005250537;XP_005250538;XP_006716098;XP_006716099;XP_006716100;XP_006716101;XP_006716102;XP_006716103 Hs.105191;Hs.742544 1688534;1700950;1769184;2110053;2174735 D7S1765;D7S2930;RH104102;RH94035;ZCWPW1_9870 DKFZp434N0510;FLJ10057;ZCW1 OTTHUMP00000215760;OTTHUMP00000215761;OTTHUMP00000215762;zinc finger CW-type PWWP domain protein 1;zinc finger, CW-type with PWWP domain 1 protein-coding ENSG00000078487 HGNC:23486 15706 VALIDATED 1352800 ZDHHC14 zinc finger, DHHC-type containing 14 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN protein palmitoylation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH aflatoxin B1; benzene; benzo[a]pyrene 6 6 6 q25.3 158441700 158739011 + 157802557 158098293 + 157381525 157677261 + 1580863;6480464;8554872 12477932;14574404;14702039;15489334;16647879;19322201;22041458;24407904 79683 H0Y2Y4;H0YAX0;Q8IZN3 ABBA01021115;ABBA01021116;ABBA01021117;ABBA01021118;AF542388;AF542389;AJ420552;AK024637;AK092380;AK123429;AK124573;AK128773;AK309408;AL117344;AL133510;AL450328;AMYH02014826;AMYH02014827;AMYH02014828;AMYH02014829;BC008978;BC029881;BC040707;BC056399;BC125072;BC125073;CH471051;NM_024630;NM_153746;XM_005267146 AAH56399;AAI25073;AAI25074;AAN47142;AAN47143;BAB14941;BAG52543;BAG54053;EAW47670;EAW47671;EAW47672;EAW47673;EAW47674;EAW47675;NP_078906;NP_714968;Q8IZN3;XP_005267203 Hs.596214;Hs.745003 1339786;1340433;1651424;1653275;1761209;1763655;1779306;2124289;2129113;2129483;2155406;2158328;2164489;2170799;7184910;7185612 D6S1007;D6S1983;D6S2433;D6S415;RH36302;RH46611;RH69780;RH70412;SHGC-145220;SHGC-147341;SHGC-153308;SHGC-34875;SHGC-58189;WI-14340 FLJ20984;NEW1CP DHHC-14;NEW1 domain containing protein;NEW1 domain-containing protein;OTTHUMP00000017483;OTTHUMP00000017484;OTTHUMP00000017486;probable palmitoyltransferase ZDHHC14;zinc finger DHHC domain-containing protein 14;zinc finger, DHHC domain containing 14 protein-coding ENSG00000175048 HGNC:20341 15711 PROVISIONAL 1345155 ZDHHC15 zinc finger, DHHC-type containing 15 The protein encoded by this gene belongs to the DHHC palmitoyltransferase family. Mutations in this gene are associated with mental retardatio X-linked type 91 (MRX91). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X q13.3 74871681 75026653 - 74588262 74743337 - 75368427 75523502 - 1580863;6480464;7240710;8699517;8554872 12477932;12975309;14702039;15489334;15772651;15915161;16344560;16647879 158866 B3KY34;B7Z8U0;Q96MV8 ABBA01059439;ABBA01059440;ABBA01059441;ABBA01059442;ABBA01059443;ABBA01059444;ABBA01059445;ABBA01059446;ABBA01059447;ABBA01059448;ABBA01059449;ABBA01059450;ABBA01059451;ABBA01059452;ABBA01059453;ABBA01059454;ABBA01059455;ABBA01059456;ABBA01059457;ABBA01059458;ABBA01059459;ABBA01059460;ABBA01059461;AC020717;AK056374;AK122885;AK123754;AK128587;AK303896;AL137013;AL391055;AMYH02039788;AMYH02039789;AMYH02039790;AY358786;BC103980;BC103981;BC103982;BQ028106;CH471104;DA439027;DC366734;NG_012974;NM_001146256;NM_001146257;NM_144969;XM_006724624 AAI03981;AAI03982;AAI03983;AAQ89146;BAB71168;BAG53779;BAG54696;BAH14076;EAW98627;EAW98628;EAW98629;NP_001139728;NP_001139729;NP_659406;Q96MV8;XP_006724687 Hs.253211 1754077;1754581;2173763;5015961;5037552;5111515 D15S1477;D8S2279;SHGC-12900;SHGC-132114;SHGC-132866;SHGC-53767 FLJ31812;MGC119974;MGC119975;MGC119976;MRX91 DHHC-15;OTTHUMP00000023583;palmitoyltransferase ZDHHC15;zinc finger DHHC domain-containing protein 15;zinc finger, DHHC domain containing 15 APPROVED protein-coding ENSG00000102383 HGNC:20342 06758 300576;300577 REVIEWED 1604262 ZDHHC16 zinc finger, DHHC-type containing 16 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN protein palmitoylation; FOUND IN endoplasmic reticulum (inferred); integral component of membrane (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine; atrazine 10 10 10 q24.1 92943986 92955183 + 99205900 99217127 + 97446131 97457370 + 6480464 12021275;12477932;12975309;15164054;15489334;16385451;17123647;17207965;24250222;8889548 84287 B1AMT9;B1AMU0;B1AMU5;B4DNL2;H0Y536;H0Y6E9;Q969W1 ABBA01021803;AF258563;AJ294945;AK074427;AK297962;AL355490;AMYH02023609;AY359080;BC004535;BC008074;BC011749;BC012830;BC033157;BC050652;BG769550;BM678689;BU500243;BX353685;CH471066;DC399731;NM_001287803;NM_001287804;NM_032327;NM_198043;NM_198044;NM_198045;NM_198046;NR_109895;XM_006718021;XM_006718022;XM_006718023;XM_006718024;XM_006718025;XM_006718026 AAG23766;AAH04535;AAH08074;AAH11749;AAH12830;AAH33157;AAQ89439;ADQ32335;BAG60274;CAC82556;EAW49929;EAW49930;EAW49931;EAW49932;EAW49933;EAW49934;EAW49935;NP_001274732;NP_001274733;NP_115703;NP_932160;NP_932161;NP_932162;NP_932163;Q969W1;XP_006718084;XP_006718085;XP_006718086;XP_006718087;XP_006718088;XP_006718089 Hs.76662 1662152;1689747;2164321;2172744;5015881;5020988 A002I07;D22S958;GDB:335751;RH11297;RH93293;SHGC-31924 APH2;DHHC-16;MGC2993 Abl-philin 2;OTTHUMP00000020191;OTTHUMP00000020192;OTTHUMP00000020193;OTTHUMP00000020194;OTTHUMP00000020195;OTTHUMP00000020197;OTTHUMP00000020198;OTTHUMP00000020199;OTTHUMP00000020200;probable palmitoyltransferase ZDHHC16;zinc finger DHHC domain-containing protein 16;zinc finger, DHHC domain containing 16 protein-coding ENSG00000171307 HGNC:20714 15712 VALIDATED 6481188 ZDHHC20-AS1 ZDHHC20 antisense RNA 1 100874230 AL136219 APPROVED miscrna HGNC:39899 1319625 ZDHHC18 zinc finger, DHHC-type containing 18 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN protein palmitoylation; FOUND IN Golgi apparatus; INTERACTS WITH aflatoxin B1; copper(2+) sulfate; nickel sulfate 1 1 1 p36.11 25550302 25579306 + 27153201 27184092 + 26826710 26855720 + 1580863;6480464 12477932;14702039;15489334;16647879;16710414 84243 E9PJS3;H0YEN1;Q9NUE0 ABBA01034929;ABBA01034930;ABBA01034931;ABBA01034932;AK056427;AK298683;AL034380;AL512765;AMYH02000578;AMYH02000579;AMYH02000580;BC066776;CH471059;NM_032283 AAH66776;BAG60846;CAC21682;EAX07788;EAX07789;NP_115659;Q9NUE0 Hs.523710 1849541;1849543;2127593;2145990;2148804;5106525 A002B28;AL009289;G19894;G38319;RH12522;SHGC-74485 DHHC-18;DHHC18;DKFZp667O2416 OTTHUMP00000004241;OTTHUMP00000228404;palmitoyltransferase ZDHHC18;zinc finger DHHC domain-containing protein 18;zinc finger, DHHC domain containing 18 protein-coding HGNC:20712 15713 VALIDATED 1351838 ZDHHC17 zinc finger, DHHC-type containing 17 ENCODES a protein that exhibits identical protein binding; magnesium ion transmembrane transporter activity; palmitoyltransferase activity; INVOLVED IN lipoprotein transport; magnesium ion transport; positive regulation of I-kappaB kinase/NF-kappaB signaling; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; Golgi apparatus; Golgi membrane; INTERACTS WITH coumestrol; hydralazine; valproic acid 12 12 12 q21.2 76823537 76912998 + 77157854 77247481 + 76764074 76853872 + 6480464;8554872 10231032;12393793;12477932;12761501;15489334;15489887;15603740;16344560;16647879;16847693;18029348;18794299;19322201;19434754;19955568;20507996;20936779;21705657;21849558;22505724;22649491;23275563;24001771;9700202 23390 F8VPW2;F8VUG7;F8VX48;H0YHF0;H0YHW0;H0YI74;H0YIK0;H0YIN1;H0YIP7;Q8IUH5 AB023163;AB024494;AB097013;AB097035;ABBA01053537;ABBA01053538;ABBA01053539;ABBA01053540;AC093014;AC124784;AF049612;AF161412;AK292866;AK299089;AMYH02026789;AMYH02026790;BC030990;BC050324;CH471054;DA227374;NM_015336;XM_005268749;XM_005268750;XM_005268751 AAC26848;AAF28972;AAH30990;AAH50324;BAA76790;BAC22089;BAC77366;BAC77388;BAF85555;BAG61151;EAW97331;EAW97332;EAW97333;EAW97334;EAW97335;NP_056151;Q8IUH5;XP_005268806;XP_005268807;XP_005268808 Hs.4014 1342016;1668610;1668612;1718337;1746235;1749071;2116029;2185000;5021110;5038569 D12S1709;D12S1912;G31144;G64414;RH11174;RH122940;SGC44319;SHGC-110735;SHGC-44319;WI-19323 DHHC-17;HIP-14;HIP-3;HIP14;HIP3;HSPC294;HYPH;KIAA0946 Huntingtin interacting protein H;OTTHUMP00000242466;huntingtin interacting protein 14;huntingtin interacting protein 3;huntingtin yeast partner H;huntingtin-interacting protein 14;huntingtin-interacting protein 3;huntingtin-interacting protein H;palmitoyltransferase ZDHHC17;putative MAPK-activating protein PM11;putative NF-kappa-B-activating protein 205;zinc finger DHHC domain-containing protein 17;zinc finger, DHHC domain containing 17 protein-coding ENSG00000186908 HGNC:18412 09697 607799 VALIDATED 6480958 ZDHHC20-IT1 ZDHHC20 intronic transcript 1 (non-protein coding) 100874367 AL136219 ncrna HGNC:39900 1346417 ZDHHC19 zinc finger, DHHC-type containing 19 ENCODES a protein that exhibits protein-cysteine S-palmitoyltransferase activity (inferred); zinc ion binding (inferred); INVOLVED IN metabolic process (inferred); FOUND IN endoplasmic reticulum; INTERACTS WITH 5-aza-2'-deoxycytidine; atrazine; cisplatin 3 3 3 q29 194504929 194518767 - 195924323 195938308 - 196197452 196211437 - 1580863;6480464 12477932;14702039;15489334;16647879;20074548;20139978;21160409 131540 Q8WVZ1 ABBA01033721;ABBA01033722;ABBA01033723;AC069257;AC246794;AK122907;BC022078;BC034801;BG721568;BU929650;CH471191;HC044725;NM_001039617;XM_005269277;XM_005269278;XM_005269279;XM_006713493;XM_006713494;XR_246038 AAH22078;BAG53793;CBH30692;EAW53666;EAW53667;EAW53668;EAW53669;NP_001034706;Q8WVZ1;XP_005269334;XP_005269335;XP_005269336;XP_006713556;XP_006713557 Hs.111591 1685275 RH92567 DHHC19;MGC33345 DHHC-19;OTTHUMP00000208528;OTTHUMP00000208529;OTTHUMP00000208596;probable palmitoyltransferase ZDHHC19;zinc finger DHHC domain-containing protein 19;zinc finger, DHHC domain containing 19 protein-coding ENSG00000163958 HGNC:20713 15714 VALIDATED 1606124 ZDHHC20 zinc finger, DHHC-type containing 20 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN protein palmitoylation; FOUND IN membrane; plasma membrane; INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; kojic acid 13 13 13 q12.11 3012184 3095519 - 21946710 22033508 - 21372571 21459370 - 6480464 12477932;14702039;15057823;15489334;16647879;18976975;19946888;20334580;21139048;21890473;21906983;23000965;23400010;24816145;8889548 253832 B4DRN8;Q5W0Z9 ABBA01068604;ABBA01068605;ABBA01068606;ABBA01068607;AK090979;AK098818;AK295804;AK299354;AL136219;AL833626;AMYH02027659;AMYH02027660;BC034944;BC036691;BC037336;BC050367;BC067898;BC110517;BG720734;BU685378;CH471075;NM_001286638;NM_153251;NR_104486;NR_104487;XM_006719795;XM_006719796;XM_006719797;XM_006719798;XR_429215 AAH34944;AAH50367;AAH67898;AAI10518;BAC05422;BAG58622;BAG61350;EAX08307;EAX08308;EAX08309;EAX08310;NP_001273567;NP_694983;Q5W0Z9;XP_006719858;XP_006719859;XP_006719860;XP_006719861 Hs.564611 1700508;2111594;2168492;5022651;5117897;5125399 D11S2921;D13S1540;GDB:631813;RH103875;RH11201;RH69325 4933421L13Rik;DHHC-20;FLJ25952;MGC126005 DHHC-containing protein 20;OTTHUMP00000018802;probable palmitoyltransferase ZDHHC20;zinc finger DHHC domain-containing protein 20;zinc finger, DHHC domain containing 20 protein-coding ENSG00000180776 HGNC:20749 08078 VALIDATED 5134875 ZDHHC20P1 zinc finger, DHHC-type containing 20 pseudogene 1 6 6 p21.3 29675918 29676324 - 29708141 29708547 - 100048907 ABBA01038036;AL645939;AL669813;AL844851;AMYH02013417;BX005428;BX927250;CR388408;CR759790;NG_029279 pseudo HGNC:33456 INFERRED 6481063 ZDHHC20P3 zinc finger, DHHC-type containing 20 pseudogene 3 11 11 74939359 74939697 - 75228314 75228652 - 100874348 ABBA01017472;AMYH02025112;AP001972;NG_032357 pseudo HGNC:39775 INFERRED 5130599 ZDHHC20P4 zinc finger, DHHC-type containing 20 pseudogene 4 13 13 13 q21.33 50461410 50462793 + 69559075 69560458 + 68984943 68986326 + 730239 ABBA01050299;AL359394;AMYH02028212;NG_011414 pseudo HGNC:39776 INFERRED 5134855 ZDHHC20P2 zinc finger, DHHC-type containing 20 pseudogene 2 6 6 p21.3 31348185 31348616 + 31380408 31380839 + 20205591 100048908 ABBA01038073;AL669854;AL671883;AL845443;AMYH02013449;BX119958;CR318637;NG_029280 pseudo HGNC:33457 INFERRED 1318218 ZDHHC22 zinc finger, DHHC-type containing 22 ENCODES a protein that exhibits protein-cysteine S-palmitoyltransferase activity (inferred); zinc ion binding (inferred); INVOLVED IN protein localization to plasma membrane (inferred); protein palmitoylation (inferred); FOUND IN endoplasmic reticulum; Golgi apparatus; INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog) 14 14 14 q24.3 57636210 57646730 - 77597613 77608134 - 77127827 77141791 - 1580863;6480464 11181995;12477932;14702039;15489334;16344560;16647879;24262325 283576 G3V259;G3V3N3;Q8N966 ABBA01030663;AC007375;AK095612;AK294840;AMYH02029566;BC035881;BC117676;CH471061;DA496626;NM_174976;XM_006720119;XM_006720120 AAI17677;BAC04590;BAH11901;EAW81271;NP_777636;Q8N966;XP_006720182;XP_006720183 Hs.525485 2218660 ZDHHC22__4935 C14orf59 DHHC-22;OTTHUMP00000246535;palmitoyltransferase ZDHHC22;putative palmitoyltransferase ZDHHC22;zinc finger DHHC domain-containing protein 22;zinc finger, DHHC domain containing 22 protein-coding ENSG00000177108 HGNC:20106 12655 VALIDATED 1313969 ZDHHC21 zinc finger, DHHC-type containing 21 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN peptidyl-L-cysteine S-palmitoylation; protein palmitoylation; FOUND IN Golgi apparatus; plasma membrane; INTERACTS WITH all-trans-retinoic acid; cobalt dichloride; methyl methanesulfonate 9 9 9 p22.3 14544591 14626897 - 14611069 14693480 - 14611071 14693482 - 6480464 12477932;14702039;15164053;15489334;16647879;17207965;19754311;19956733;22031296;22493691;22496122;22589738 340481 Q8IVQ6;Q9P0D9 ABBA01065298;ABBA01065299;AF161360;AK026322;AK096860;AK124263;AK127313;AK292960;AL390732;AMYH02019196;AMYH02019197;AMYH02019198;BC042439;BC042558;CH471071;NM_178566;XM_006716760;XM_006716761;XM_006716762;XM_006716763 AAF28920;AAH42558;ADQ32464;BAF85649;EAW58692;EAW58693;NP_848661;Q8IVQ6;XP_006716823;XP_006716824;XP_006716825;XP_006716826 Hs.649522;Hs.714266 1672478;1677314;1682686;1688722;1699266;1709190 RH103215;RH80954;RH92721;RH94088;SHGC-85763;STS-N34905 9130404H11Rik;DHHC-21;DHHC21;DNZ1;HSPC097 OTTHUMP00000021060;palmitoyltransferase ZDHHC21;probable palmitoyltransferase ZDHHC21;zinc finger DHHC domain-containing protein 21;zinc finger, DHHC domain containing 21 protein-coding ENSG00000175893 HGNC:20750 15716 614605 VALIDATED 736613 ZDHHC2 zinc finger, DHHC-type containing 2 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN protein palmitoylation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN endoplasmic reticulum; Golgi apparatus; INTERACTS WITH 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; arsenous acid; cobalt dichloride 8 8 8 p22 15979980 16046302 + 17013836 17080241 + 17156327 17224965 + 1580863;6480464;8554872 10918388;12021275;12477932;14702039;15489334;16647879;18296695;18508921;19144824;20211142;20379614;21343290;21471008;22034844;23000965;23457560 51201 E5RFZ7;Q9UIJ5 AB023584;ABBA01021585;ABBA01021586;AC079193;AC091050;AK001608;AMYH02017526;AMYH02017527;AMYH02017528;AMYH02017529;BC039253;BC050272;CH471080;HI931683;NM_016353;XM_006716351 AAH39253;AAH50272;BAA88923;BAG50948;CBY79708;EAW63824;EAW63825;NP_057437;Q9UIJ5;XP_006716414 Hs.744097 1650248;1699746;1744077;1759783;1848512 G32164;GDB:386001;RH103479;RH36493;SHGC-170023 DHHC-2;DHHC2;ZNF372;ream;rec OTTHUMP00000225183;palmitoyltransferase ZDHHC2;reduced expression associated with metastasis protein;reduced expression in cancer protein;zinc finger DHHC domain-containing protein 2;zinc finger protein 372;zinc finger, DHHC domain containing 2 protein-coding ENSG00000104219 HGNC:18469 15715 VALIDATED 4891558 ZDHHC4P1 zinc finger, DHHC-type containing 4 pseudogene 1 13 13 13 24565663 24566918 + 43507813 43509068 + 42933677 42934932 + 100420920 ABBA01021248;AL137878;AMYH02027937;NG_024919 pseudo HGNC:39443 INFERRED 1602172 ZDHHC24 zinc finger, DHHC-type containing 24 ENCODES a protein that exhibits protein-cysteine S-palmitoyltransferase activity (inferred); zinc ion binding (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Bardet-Biedl Syndrome (inferred); Bardet-Biedl syndrome 1 (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH atrazine; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 11 11 11 q13.2 63627011 63633947 - 66288854 66313709 - 66521384 66546238 - 6480464;8554872 12477932;12975309;15489334;19913121;20628086;21926972 254359 E9PI61;E9PLR9;Q6UX98 ABBA01024074;AK301787;AK310561;AMYH02024979;AP002748;AY358448;BC005015;BC057833;CH471076;NM_207340;XM_005273873;XM_005273874 AAH05015;AAH57833;AAQ88813;ADZ15618;BAG63243;EAW74545;NP_997223;Q6UX98;XP_005273930;XP_005273931 Hs.659933 DHHC-24;OTTHUMP00000235141;probable palmitoyltransferase ZDHHC24;zinc finger DHHC domain-containing protein 24;zinc finger, DHHC domain containing 24 protein-coding HGNC:27387 17325 PROVISIONAL 1345232 ZDHHC23 zinc finger, DHHC-type containing 23 ENCODES a protein that exhibits protein-cysteine S-palmitoyltransferase activity (inferred); zinc ion binding (inferred); INVOLVED IN metabolic process (inferred); protein localization to plasma membrane (inferred); protein palmitoylation (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; hydrogen peroxide 3 3 3 q13.31 112075199 112090278 + 113666748 113705706 + 113947901 113986859 + 737633;1580863;6480464 12477932 14702039;15105416;15489334;21832049;22482804;8619474;9110174 254887 B3KXV3;C9JPJ8;E9PAP7;H7C4L2;Q8IYP9 ABBA01061640;AC128687;AF131818;AK022842;AK127025;AK127260;AK127996;AMYH02007456;BC035230;CH471052;NM_173570;XM_005247265;XM_005247266;XM_005247267;XM_005247269;XM_005247270;XM_006713561;XM_006713562;XR_241478;XR_241479 AAH35230;BAG54425;BAG54615;EAW79616;EAW79617;EAW79618;EAW79619;EAW79620;NP_775841;Q8IYP9;XP_005247322;XP_005247323;XP_005247324;XP_005247326;XP_005247327;XP_006713624;XP_006713625 Hs.21902 1335839;1660949;1687097;1735192;2122736;2162855;2162857 A005A39;D3S2836E;D3S3313;D3S3585;G20226;RH12338;RH93691 MGC42530;NIDD DHHC-23;OTTHUMP00000214912;OTTHUMP00000214913;OTTHUMP00000214914;palmitoyltransferase ZDHHC23;probable palmitoyltransferase ZDHHC23;zinc finger DHHC domain-containing protein 23;zinc finger, DHHC domain containing 23 protein-coding ENSG00000184307 HGNC:28654 15717 VALIDATED 1319160 ZDHHC3 zinc finger, DHHC-type containing 3 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN protein palmitoylation; FOUND IN Golgi apparatus; membrane; INTERACTS WITH atrazine; cyclosporin A; valproic acid 3 3 3 p21.31 44894716 44955634 - 44956753 45017674 - 44915261 44976182 - 1580863;6480464 12163046;12477932;15229235;15231748;15489334;16189514;16647879;16713569;19322201;19946888;19953087;19955568;22240897;22314500;23687301;8619474;9110174 51304 B4DSK2;C9JIA9;C9JNU5;F8W6M3;H0Y6A5;H7C1U6;H7C365;Q9NYG2 AA778122;ABBA01024735;AC098649;AC104165;AF052182;AF247703;AF441791;AK000216;AK127837;AK299782;AL832057;AMYH02006652;AY605661;BC015467;BC020350;BC020424;BC038436;BC101284;BC101285;BC101286;BC101287;BC113070;CH471055;DB636483;NM_001135179;NM_016598;XM_005265209;XM_005265212;XM_006713189;XM_006713190;XM_006713191;XM_006713192;XM_006713193;XM_006713194 AAF63570;AAH15467;AAL34547;AAV83779;ACE86719;ACE87405;ACT64532;ACT64533;BAG61664;EAW64729;EAW64730;NP_001128651;NP_057682;Q9NYG2;XP_005265266;XP_005265269;XP_006713252;XP_006713253;XP_006713254;XP_006713255;XP_006713256;XP_006713257 Hs.61430 1652906;1689899;1699246;1739043;1854896;1854898;2112662;2119652;2218662;5014051;5016851;5022200;5493201 A005U27;D3S3243;D3S4221;D3S4426;D8S2278;G20511;L18426;RH103204;RH80031;RH98231;STS-AA027089;UniSTS:484717;ZDHHC3__4936 DHHC-3;DKFZp313D2314;FLJ20209;FLJ45940;GODZ;ZNF373 DHHC1 protein;Golgi apparatus-specific protein with DHHC zinc finger domain;OTTHUMP00000164123;OTTHUMP00000211255;OTTHUMP00000211257;OTTHUMP00000211300;golgi-specific DHHC Zinc Finger Protein;palmitoyltransferase ZDHHC3;zinc finger DHHC domain-containing protein 3;zinc finger protein 373;zinc finger, DHHC domain containing 3 protein-coding ENSG00000163812 HGNC:18470 15718 VALIDATED 1314627 ZDHHC5 zinc finger, DHHC-type containing 5 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN protein palmitoylation; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN membrane; plasma membrane; INTERACTS WITH atrazine; paracetamol; valproic acid 11 11 11 q12.1 54791959 54825136 + 57435223 57468659 + 57668002 57701187 + 1580863;6480464;8554872 11214970;12477932;14702039;15489334;16647879;17081983;19801377;19946888;21820437;21890473;21906983;22939629;22990118;23000965 25921 E9PJ97;E9PMA5;H0YEF4;Q9C0B5 AB051535;ABBA01021475;AK023130;AK172807;AL117662;AMYH02024844;AP000662;AY894889;BC026967;BX647707;CB989150;CH471076;NM_015457 AAH26967;AAX73368;ABM83376;ABM86588;BAB14420;BAB21839;BAD18778;CAB56033;EAW73771;EAW73772;EAW73773;NP_056272;Q9C0B5 Hs.27239 1338298;1664831;1720561;2110055;2128825;2128939;2129234 A003A41;D11S1777;D11S2272E;D11S4384;G59234;RH45501;ZDHHC5_9432 DHHC-5;DHHC5;DKFZp586K0524;KIAA1748;ZNF375 OTTHUMP00000235460;OTTHUMP00000235461;membrane-associated DHHC5 zinc finger protein;palmitoyltransferase ZDHHC5;probable palmitoyltransferase ZDHHC5;zinc finger DHHC domain-containing protein 5;zinc finger protein 375;zinc finger, DHHC domain containing 5 protein-coding ENSG00000156599 HGNC:18472 15720 614586 VALIDATED 1312223 ZDHHC6 zinc finger, DHHC-type containing 6 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN protein palmitoylation; FOUND IN endoplasmic reticulum; INTERACTS WITH 2-methylcholine; arsenous acid; coumestrol 10 10 10 q25.2 107917581 107934195 - 114190058 114207301 - 112430300 112447147 - 1580863;6480464 12477932;14702039;15489334;16169070;16647879;19801377;20379614;21906983;21963094;22745667;23793025;8125298 64429 Q9H6R6 ABBA01063005;AC022018;AF267740;AK025605;AK026369;AK223086;AK308026;AMYH02023820;BC007213;BC017434;BX647270;CH471066;NM_022494;XM_005270051;XM_005270052;XM_006717948;XM_006717949 AAH07213;AAH17434;AAL56663;ADZ15349;BAB15187;BAB15462;BAD96806;EAW49526;EAW49527;EAW49528;EAW49529;EAW49530;EAW49531;NP_071939;Q9H6R6;XP_005270108;XP_005270109;XP_006718011;XP_006718012 Hs.196990 1646852;1646854;1736124;2149266 A006C33;D10S1390E;D10S1564;G20705 DHHC-6;FLJ21952;ZNF376 OTTHUMP00000020491;OTTHUMP00000020492;palmitoyltransferase ZDHHC6;probable palmitoyltransferase ZDHHC6;transmembrane protein H4;zinc finger DHHC domain-containing protein 6;zinc finger protein 376;zinc finger, DHHC domain containing 6 protein-coding ENSG00000023041 HGNC:19160 15721 PROVISIONAL 1318128 ZDHHC4 zinc finger, DHHC-type containing 4 ENCODES a protein that exhibits protein-cysteine S-palmitoyltransferase activity (inferred); zinc ion binding (inferred); INVOLVED IN metabolic process (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus; INTERACTS WITH copper(2+) sulfate; fonofos; parathion 7 7 7 p22.1 6106568 6118126 - 6617065 6628610 + 6577434 6588979 + 1580863;6480464;8554872 11230166;12477932;12690205;12975309;14702039;15146197;15489334;15527767;16647879;16751776;8125298;8889548 55146 C9J5I9;Q9NPG8 ABBA01056494;ABBA01056495;AC079742;AF201931;AK001341;AK223532;AK308971;AL136674;AMYH02015178;AY359090;BC001239;BQ185277;BQ925460;CH236963;CH878731;CN365375;CR533511;CS072288;NM_001134387;NM_001134388;NM_001134389;NM_018106;XM_005249793;XM_005249794;XM_005249795;XM_005249796;XM_006715750 AAF86867;AAH01239;AAQ89448;ABM82742;ABM85929;BAA91636;BAD97252;CAB66609;CAG38542;CAI93426;EAL23725;EAW55023;EAW55024;EAW55025;EAW55026;EAW55027;NP_001127859;NP_001127860;NP_001127861;NP_060576;Q9NPG8;XP_005249850;XP_005249851;XP_005249852;XP_005249853;XP_006715813 Hs.5268 1752675;1847113;2117094;2120538;2131161;5113697 A008D23;D7S2646;GDB:4585098;RH93371;SHGC-106502;STS-Z41394 DHHC-4;FLJ10479;ZNF374 OTTHUMP00000025197;OTTHUMP00000115925;OTTHUMP00000115926;OTTHUMP00000115927;OTTHUMP00000200654;probable palmitoyltransferase ZDHHC4;zinc finger DHHC domain-containing protein 4;zinc finger protein 374;zinc finger, DHHC domain containing 4 protein-coding ENSG00000136247 HGNC:18471 15719 VALIDATED 1604989 ZDHHC8P1 zinc finger, DHHC-type containing 8 pseudogene 1 INTERACTS WITH all-trans-retinoic acid; diazinon 22 22 22 q11.23 7547252 7559257 - 23732792 23744799 - 23390605 23402612 - 6480464 12477932;14702039;15146197;16344560;8889549 150244 Q96N15 AA126252;ABBA01055107;ABBA01055108;AK056130;AK092530;AK092581;AMYH02038124;AP000344;BC063382;BC105936;BC105937;BC107600;CH471095;CK902416;CN269046;DA485168;NR_003950 BAB71099;BAC03919;BAG52567;EAW59574;EAW59575;EAW59576;EAW59577 Hs.386693 1651501;1681478;5015861;5024039;5037552;5109281;7185938 A008R36;D10S16;D16S325;D1S1425;D8S2279;RH91790 FLJ31568;MGC126046;MGC126047;ZDHHC8P APPROVED pseudo HGNC:26461 08104 VALIDATED 1351877 ZDHHC7 zinc finger, DHHC-type containing 7 ENCODES a protein that exhibits palmitoyltransferase activity; INVOLVED IN peptidyl-L-cysteine S-palmitoylation; protein palmitoylation; FOUND IN Golgi apparatus; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; coumestrol 16 16 16 q24.1 69310278 69347352 - 85008066 85045141 - 84974460 85011535 - 1580863;6480464 12477932;14667819;14702039;15146197;15489334;16344560;16647879;18391951;21832049;21906983;22031296;8125298 55625 H3BMI0;H3BNQ9;Q9NXF8 ABBA01016893;ABBA01016894;ABBA01016895;ABBA01016896;AC092341;AK000286;AK001654;AK023428;AK130081;AK225768;AMYH02032573;AMYH02032574;AW235073;BC017702;BC018772;CH471114;CN427219;DA507340;NM_001145548;NM_017740;XR_429724 AAH17702;AAH18772;ABM82894;ABM86083;BAA91055;BAA91814;EAW95463;EAW95464;EAW95465;NP_001139020;NP_060210;Q9NXF8 Hs.461610;Hs.723447 1768617 D16S3320 DHHC-7;DHHC7;FLJ10792;FLJ20279;SERZ-B;SERZ1;ZNF370 OTTHUMP00000174997;Sertoli cell gene with zinc finger domain-βSertoli cell gene with zinc finger domain-β;palmitoyltransferase ZDHHC7;zinc finger DHHC domain-containing protein 7;zinc finger protein 370;zinc finger, DHHC domain containing 7 protein-coding ENSG00000153786 HGNC:18459 15722 614604 VALIDATED 1318899 ZDHHC8 zinc finger, DHHC-type containing 8 This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010] 22 22 22 q11.21 3971414 3987580 + 20119364 20135530 + 20131841 20148007 + 1331525;1580863;6480464 15118671 10574462;10591208;12477932;14702039;15184899;15461802;15489219;15489334;15631889;15992527;16150541;16225675;16647879;16860541;17728672;18075473;18583979;19156168;19556522;19801377;20468064;20468065;20661937;21890473;21906983;22763378;23000965;23403413 29801 C9JVM2;Q9ULC8 AB033118;ABBA01005393;AC006547;AK131238;AMYH02038056;AY894890;BC009442;BC015243;BC053544;CH471176;CR456357;NG_021420;NM_001185024;NM_013373;XM_006724239 AAH09442;AAH53544;AAX73369;BAA86606;BAD18420;CAG30243;CAK54498;CAK54797;EAX02982;EAX02983;EAX02984;NP_001171953;NP_037505;Q9ULC8;XP_006724302 Hs.63128 1651501;1681478;1693800 A008R36;RH91790;SHGC-58939 DHHC8;ZDHHCL1;ZNF378 OTTHUMP00000197629;OTTHUMP00000197630;OTTHUMP00000197631;membrane-associated DHHC8 zinc finger protein;probable palmitoyltransferase ZDHHC8;zinc finger protein 378;zinc finger, DHHC domain like containing 1 APPROVED protein-coding ENSG00000099904 HGNC:18474 12298 608784 REVIEWED 5134903 ZEB1-AS1 ZEB1 antisense RNA 1 INTERACTS WITH valproic acid 10 10 10 p11.22 31370728 31373295 - 31605457 31608024 - 31316528 31319095 - 6480464 12477932;16344560 220930 ABBA01033402;AK026657;AK296146;AL117340;AMYH02022571;BC042008;BX446976;DB121883;DB127940;NG_017048;NR_024284 BAG58885 Hs.372654 APPROVED ncrna HGNC:42354 PREDICTED 2800586 ZEB2-AS1 ZEB2 antisense RNA 1 2 2 q22.3 145277181 145278466 + 144519614 144520899 + 18347095 100303491 ABBA01028051;AC009951;AI760227;AMYH02004921;AMYH02004922;BE048858;BG054540;HG494684;HG494687;HG494688;NR_040248 Hs.560789 ZEB2-AS;ZEB2AS;ZEB2NAT APPROVED ncrna ENSG00000238057 HGNC:37149 VALIDATED 1348132 ZDHHC9 zinc finger, DHHC-type containing 9 This gene encodes an integral membrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein forms a complex with golgin subfamily A member 7 and functions as a palmitoyltransferase. This protein specifically palmitoylates HRAS and NRAS. Mutations in this gene are associated with X-linked mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, May 2010] X X X q26.1 129323767 129364414 - 128937264 128977910 - 129803288 129843934 - 1580863;6480464;7240710;8554872;8699517 10810093;12477932;12975309;14702039;15203218;15489334;15772651;15790807;16000296;16193335;16344560;16647879;17436253;17519897;18029348;21139048;21388813;21890473;21963094;22230506;24248599 51114 H0Y6K6;Q5JYE8;Q9Y397 AB209807;ABBA01047840;ABBA01047841;ABBA01047842;ABBA01047843;ABBA01047844;ABBA01047845;AF151847;AK001112;AK001424;AK001524;AK096967;AL034405;AL161962;AL359542;AMYH02040464;AY358558;AY952881;BC000035;BC003128;BC006200;BC012826;BM272779;BM909699;CD627424;CH471107;DA493628;DA768650;NG_021387;NM_001008222;NM_016032 AAD34084;AAH00035;AAH03128;AAH06200;AAH12826;AAQ88922;ACE86503;ACE87184;ACF60379;BAA91683;BAA91740;BAD93044;BAG50857;BAG53403;CAB82308;EAX11822;EAX11823;EAX11824;EAX11825;NP_001008223;NP_057116;Q9Y397 Hs.193566 1646429;1691558;1691658;2117751;5017917 AL032594;AL032614;STS-R49987;WI-13538;ZDHHC9 CGI-89;CGI89;CXorf11;DHHC9;MMSA-1;MMSA1;MRXSZ;ZDHHC10;ZNF379;ZNF380 Asp-His-His-Cys domain containing protein 9;OTTHUMP00000023989;OTTHUMP00000023990;OTTHUMP00000023992;antigen MMSA-1;palmitoyltransferase ZDHHC9;zinc finger protein 379;zinc finger protein 380;zinc finger, DHHC domain containing 10;zinc finger, dhhc domain containing 9 APPROVED protein-coding ENSG00000188706 HGNC:18475 06759 300646;300799 REVIEWED 5509856 ZEB2P1 zinc finger E-box binding homeobox 2 pseudogene 1 4 4 4 p15.32 16827549 16828684 - 16362314 16363449 - 16360691 16361826 - 100420926 ABBA01032583;AC006427;AMYH02008809;NG_025087 ZEB1P1 pseudo HGNC:33346 INFERRED 1321095 ZER1 zyg-11 related, cell cycle regulator This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012] 9 9 9 q34.11 102142849 102184970 - 131492065 131534220 - 128729786 128771941 - 737633;6480464 12477932 11719588;15164053;15489334;17304241;18187417;20706999;21139048;21890473;21906983;21963094;21987572;22053931;23568457;24144296 10444 Q05BR7;Q7Z7L7;X6RC68;X6RD87 ABBA01043899;ABBA01043900;ABBA01043901;AK314911;AL441992;AMYH02021724;AMYH02021725;AMYH02021726;AMYH02021727;BC001447;BC033884;BC052563;CH471090;HY170548;NM_006336;X99802;XM_005251645;XM_005251646 AAH33884;AAH52563;BAG37423;CAA68137;EAW87829;EAW87830;EAW87831;NP_006327;Q7Z7L7;XP_005251702;XP_005251703 Hs.147950;Hs.744180 1668372;1689925;1778414;1858243;2141728;2156537;2172027;5106655;7186271 A005A01;A007G01;A009Q15;D9S290;RH12806;RH15914;RH77924;RH94051;SHGC-53023 C9orf60;Hzyg;RP11-545E17.4;ZYG;ZYG11BL OTTHUMP00000022294;ZYG homolog;chromosome 9 open reading frame 60;homolog of Zyg-11;zer-1 homolog;zyg-11 homolog B-like protein APPROVED protein-coding ENSG00000160445 HGNC:30960 10802 REVIEWED 1605942 ZFAND1 zinc finger, AN1-type domain 1 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A; kojic acid 8 8 8 q21.13 78618071 78638022 - 82613566 82633539 - 81701331 81721304 - 6480464;8554872 12477932;14702039;15489334;17207965;19322201;23535730;24816145;8125298;8889548 79752 E5RFE5;E5RFU1;E5RG60;E5RGE5;E5RHR9;E5RI74;E5RIH7;E5RIS3;E5RJ74;E5RK75;H0YBX7;Q8TCF1 ABBA01004050;ABBA01004051;AC132219;AK024069;AK225195;AK304111;AL833030;AMYH02018315;BC022251;BC051857;BC056877;BG618233;BQ427843;BQ435400;BU624414;BU678501;CA412820;CH471068;CR457323;NM_001170796;NM_001170797;NM_024699;NR_033193;NR_033194;NR_033195;NR_033196 AAH22251;AAH51857;AAH56877;ADQ32185;BAB14813;BAG65013;CAG33604;CAH56344;EAW87103;EAW87104;EAW87105;EAW87106;NP_001164267;NP_001164268;NP_078975;Q8TCF1 Hs.655453 1674208;1684413;1851825 A009A23;RH45131;RH92477 FLJ14007 AN1-type zinc finger protein 1;OTTHUMP00000227213;OTTHUMP00000227214;OTTHUMP00000227607;OTTHUMP00000227612 protein-coding ENSG00000104231 HGNC:25858 07847 VALIDATED 1299953 ZEB1 zinc finger E-box binding homeobox 1 This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010] 10 10 10 p11.2 31373372 31583958 + 31607825 31818742 + 31319172 31529814 + 1580863;6480464;7240710;8554872;8699517 10359772;10567582;11275565;11760832;11810028;12161443;12163027;12477932;12714599;12743038;12743039;12937339;1427828;14702039;14965470;15302935;15384081;15674322;16061479;16087177;16203744;16252232;16385451;16804902;16952552;17081983;17391671;17437275;17486063;17546044;17610840;17935237;17936922;17967884;18029348;18172091;18199550;18321996;18376396;1840704;18411277;18467597;18483486;18487993;18622689;18829540;18984674;19116136;19116147;19147758;19153669;19177200;19194497;19208835;19225155;19432861;19471022;19584296;19651985;19754958;19921427;19935649;19997581;20036349;20175752;20375168;20418909;20424117;20452118;20514018;20729552;20731704;20935629;20970163;20980099;21067486;21079000;21224848;21241837;21315410;21317430;21324165;21411626;21518799;21525039;21527937;21532573;21584833;21593765;21643654;21693764;21717425;21747944;21791114;21890822;21955614;22080605;22086445;22094256;22095522;22162761;22199242;22205702;22205962;22212097;22213004;22213144;22249256;22262832;22286765;22391641;22466758;22481253;22652173;22685266;22820858;22847613;22850877;22892238;22939629;23013135;23030626;23038259;23065281;23190132;23255418;23285017;23318438;23381389;23412770;23559851;23565224;23584475;23591815;23599324;23667256;23690952;23743934;23765923;23791009;23807282;23818228;23827675;23844063;23869586;23890107;23957009;23994666;24067373;24113819;24127332;24154725;24165969;24257549;24277930;24304426;24304617;24305877;24306957;24348007;24468793;24615544;24654937;24762440;24929761;7935395;8138542;9418848;9724649 6935 B2RBI8;F6TDF5;F6U0D0;H0YMD3;H0YMN2;H0YND9;P37275 ABBA01033399;ABBA01033400;ABBA01033401;AI086650;AK091478;AK294775;AK296244;AK299541;AK299666;AK300830;AK307510;AK308785;AK308822;AK309331;AK309399;AK310924;AK311116;AK311137;AK311187;AK311201;AK311372;AK311557;AK314683;AL117340;AL158080;AL161935;AL355148;AL831979;AMYH02022572;AMYH02022573;AMYH02022574;AMYH02022575;BC009572;BC065705;BC107781;BC112392;BQ003893;BX111519;BX647794;CH471072;DB442432;DC299346;KF455221;KF511092;M81699;NG_017048;NM_001128128;NM_001174093;NM_001174094;NM_001174095;NM_001174096;NM_030751;U12170;XM_005252575;XM_005252576;XM_006717497;XM_006717498;XM_006717499 AAA20602;AAH09572;AAI07782;AAI12393;BAC03673;BAG37235;BAG57903;BAG58962;BAG61488;BAG61580;BAG62481;EAW85989;EAW85990;NP_001121600;NP_001167564;NP_001167565;NP_001167566;NP_001167567;NP_110378;P37275;XP_005252632;XP_005252633;XP_006717560;XP_006717561;XP_006717562 Hs.124503 1298240;1298290;1339314;1340795;1341850;1660505;1678739;1686442;1697150;1758825;1767023;2119682;2156919;7185549;7186340 D10S1780;D10S1781;D10S183;D10S208;D10S565;RH102061;RH68664;RH92798;RH93105;SHGC-150616;SHGC-152671;SHGC-31480;STS-AA017128 AREB6;BZP;DELTA-EF1;DELTAEF1;FECD6;MGC133261;NIL-2-A;NIL-2A;NIL2A;PPCD3;TCF8;ZEB;ZFHEP;ZFHX1A OTTHUMP00000019404;OTTHUMP00000019405;OTTHUMP00000019406;delta-crystallin enhancer binding factor 1;negative regulator of IL2;posterior polymorphous corneal dystrophy 3;transcription factor 8 (represses interleukin 2 expression);zinc finger E-box-binding homeobox 1;zinc finger homeodomain enhancer-binding protein 1643505;1643515 BW286_H;BW287_H APPROVED protein-coding ENSG00000148516 HGNC:11642 01798 189909;609141;613270 REVIEWED 1604554 ZFAND2A zinc finger, AN1-type domain 2A ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN cellular response to arsenic-containing substance (inferred); positive regulation of proteasomal ubiquitin-dependent protein catabolic process (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); proteasome complex (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; 17beta-estradiol 7 7 7 p22.3 1156001 1163022 - 1192543 1199855 - 1152907 1160219 - 6480464 12477932;15489334;20185824;21906983;21988832;22505724;22990118;24250222;24619424 90637 A8MYA3;I3L1X3;J3KQ25;Q8N6M9 ABBA01039320;AC091729;AI435373;AK027118;AK290170;AMYH02015041;BC016963;BC029558;CH236953;CH471144;NM_182491 AAH29558;BAF82859;EAL23939;EAW87196;EAW87197;NP_872297;Q8N6M9 Hs.648111 1764077 SHGC-147733 AIRAP;AN1-type zinc finger protein 2A;OTTHUMP00000147550;OTTHUMP00000147551;OTTHUMP00000200091;arsenite inducible RNA associated protein protein-coding ENSG00000178381 HGNC:28073 14277 610699 VALIDATED 1602437 ZFAND2B zinc finger, AN1-type domain 2B This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 2 2 2 q35 213841245 213844076 + 220071506 220074373 + 219206784 219209651 + 6480464 12477932;14702039;15489334;16189514;16341674;17207965;18467495;19060904;19414486;21139048;2132133;21906983;21963094;22505724;24160817;24811749 130617 B4DEN4;B8ZZ56;C9J1R6;E7EV05;E9PFU9;F8WEE4;H7C491;Q8WV99 ABBA01023847;AC068946;AK074571;AK091345;AK292622;AK293714;AMYH02005819;BC018415;BE742808;BM852092;BU195818;CH471063;NM_001270998;NM_001270999;NM_138802;XM_006712285;XM_006712286 AAH18415;ADQ31849;BAC03642;BAF85311;BAG51972;BAG57145;EAW70690;EAW70691;EAW70692;EAW70693;NP_001257927;NP_001257928;NP_620157;Q8WV99;XP_006712348;XP_006712349 Hs.534540 1856492;2123571 D2S2921;RH18248 AIRAP-like protein;AIRAPL;AN1-type zinc finger protein 2B;OTTHUMP00000164175;OTTHUMP00000206129;OTTHUMP00000206130;OTTHUMP00000206132;OTTHUMP00000206133;arsenite inducible RNA associated protein-like;arsenite-inducible RNA-associated protein-like protein;zinc finger, AN1-type 2B APPROVED protein-coding ENSG00000158552 HGNC:25206 11234 613474 REVIEWED 1316115 ZFAND3 zinc finger, AN1-type domain 3 ENCODES a protein that exhibits DNA binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH benzo[a]pyrene; cobalt dichloride; copper(2+) sulfate 6 6 6 p21.2 39342340 39675929 + 37787272 38161637 + 37819496 38154624 + 1580863;6480464;8554872 10366431;12477932;14574404;14702039;15342556;15489334;16169070;19285159;20379614;21901158;22158537;23443559;24250222;7829101;8703127 60685 C9JQ48;E2QRF5;H0Y398;Q9H8U3 ABBA01038292;ABBA01038293;ABBA01038294;ABBA01038295;AI817165;AK023284;AK310757;AL121574;AL133377;AL137302;AL589655;AMYH02013576;AMYH02013577;AMYH02013578;AMYH02013579;AMYH02013580;AW023961;BC031481;BP305887;CH471081;NM_021943;XM_005249269;XM_006715155 AAH31481;ABM82059;ABM85238;BAB14508;EAX03955;EAX03956;NP_068762;Q9H8U3;XP_005249326;XP_006715218 Hs.36959 1653145;1657528;1661569;1680008;1705198;1735596;1767198;2131286;2133522;2146474;2164959;2172393;2175351;2186265 D6S1141E;D6S1416;G17027;IB1507;RH27223;RH36227;RH44516;RH45966;RH63715;RH66422;RH79062;SHGC-58151;SHGC-80051;STS-T86742 FLJ13222;FLJ17799;TEX27 AN1-type zinc finger protein 3;OTTHUMP00000016333;OTTHUMP00000016334;OTTHUMP00000016335;OTTHUMP00000216689;testis expressed sequence 27;testis-expressed sequence 27 protein-coding ENSG00000156639 HGNC:18019 12121 607455 VALIDATED 1347960 ZFAND4 zinc finger, AN1-type domain 4 ENCODES a protein that exhibits zinc ion binding (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog) 10 10 10 q11.22 42108967 42166179 - 46111039 46168251 - 45615501 45672813 - 1580863;6480464 12477932;14702039;15164054;15489334;16344560;16385451;21988832 93550 A8K8Q5;F2Z2H4;J3KPC0;Q5VVY2;Q5VVY4;Q5VVY6;Q86WR3;Q86XD8 AA813695;ABBA01050033;ABBA01050034;ABBA01050035;ABBA01050036;ABBA01050037;AF311324;AK090704;AK097504;AK097924;AK292420;AK292469;AK314395;AL445201;AMYH02022735;AMYH02022736;BC017591;BC045587;BC048968;CH471160;CR741609;DB079347;DB454939;DB456684;DB522994;NM_001128324;NM_001282905;NM_001282906;NM_174890;NR_104256;XM_005271837;XM_005271840;XM_005271841;XM_005271842;XM_005271843;XM_005271844;XM_006718073;XM_006718074 AAG33850;AAH45587;AAH48968;ADZ15556;BAF85109;BAF85158;BAG37019;BAG52215;BAG53478;BAG53552;EAW86653;EAW86654;EAW86655;EAW86656;NP_001121796;NP_001269834;NP_001269835;NP_777550;Q86XD8;XP_005271894;XP_005271897;XP_005271898;XP_005271899;XP_005271900;XP_005271901;XP_006718136;XP_006718137 Hs.659717;Hs.89029 1652957;1686000;1736024;1781952 D10S1302E;RH93839;SHGC-132871;SHGC-53860 ANUBL1;FLJ40185 AN1, ubiquitin-like, homolog;AN1-type zinc finger and ubiquitin domain-containing protein 1;AN1-type zinc finger and ubiquitin domain-containing protein-like 1;AN1-type zinc finger protein 4;OTTHUMP00000019503;OTTHUMP00000019507 APPROVED protein-coding ENSG00000172671 HGNC:23504 16494 VALIDATED 5490868 ZFAND6P1 zinc finger, AN1-type domain 6 pseudogene 1 9 9 p 35449637 35451105 + 35449640 35451108 + 100631382 ABBA01064993;AL133476;AMYH02019459;NG_029329 KIAA0375 pseudo HGNC:42978 INFERRED 1349305 ZFAND5 zinc finger, AN1-type domain 5 ENCODES a protein that exhibits DNA binding (inferred); zinc ion binding (inferred); INVOLVED IN face development (inferred); fibroblast migration (inferred); in utero embryonic development (inferred); FOUND IN cytoplasm (inferred); INTERACTS WITH arsenous acid; atrazine; benzo[a]pyrene 9 9 9 q13-q21 45539096 45552933 - 74966341 74980163 - 72351425 72365247 - 1580863;6480464 12477932;14754897;15164053;15489334;16194934;16344560;16424905;19913121;20628086;21139048;21832049;21906983;21923101;21963094;21987572;22505724;22665488;22939629;24816145;9758550 7763 O76080;Q5QPB1 AA837106;ABBA01033854;AF062072;AF062346;AF062347;AI379933;AK025782;AK290849;AK307376;AL135924;AMYH02020976;AW161082;BC011018;BC027707;BC073131;BG772839;BX489434;BX648551;BX649046;CH471089;DA290666;DA392231;DA914616;NM_001102420;NM_001102421;NM_001278243;NM_001278244;NM_001278245;NM_006007;X75687 AAC42601;AAC42602;AAC61801;AAH11018;AAH27707;AAH73131;ABZ92260;BAF83538;EAW62533;EAW62534;EAW62535;EAW62536;EAW62537;NP_001095890;NP_001095891;NP_001265172;NP_001265173;NP_001265174;NP_005998;O76080 Hs.406096 1643756;1679265;1680307;1694584;1735880;1735922;1780416;2117377;2127646;2191601;5016478;5020948;5022322;5022450;5037552;5491709 AU021721;D10S275;D11S2560;D8S2279;D9S1001E;D9S1058E;D9S1985;D9S1986;G19752;G35510;G43282;GDB:434012;MARC_26819-26820:1034280769:3;RH10556;RH124463;RH79808 ZA20D2;ZFAND5A;ZNF216 AN1-type zinc finger protein 5;OTTHUMP00000021469;OTTHUMP00000021470;OTTHUMP00000021471;OTTHUMP00000021472;zinc finger A20 domain-containing protein 2;zinc finger protein 216;zinc finger, A20 domain containing 2 protein-coding ENSG00000107372 HGNC:13008 05302 604761 VALIDATED 1603447 ZFAS1 ZNFX1 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; (-)-epigallocatechin 3-gallate; 17beta-estradiol 20 20 20 q13.13 44599320 44610404 + 47894715 47905797 + 49278178 49289260 + 6480464;8554872 11780052;12477932;16341674;16712791;20881960;21460236;8889548 441951 ABBA01052741;AK124175;AL049766;AMYH02037210;AY339614;AY513722;AY513723;BC032480;BC042807;BC060315;BC062222;BC062447;BC105282;BM706184;BM745942;CB137861;CR936805;HG511413;HG511414;HG511415;HG511416;HG511417;HG511418;HG511419;LK937940;NR_003604;NR_003605;NR_003606;NR_036658;NR_036659 AAS76638;AAS76639 Hs.356766 1668520;5015861;5037552;7185938 D10S16;D8S2279;RH15910 C20orf199;HSUP1;HSUP2;NCRNA00275;ZNFX1-AS1 APPROVED ncrna ENSG00000177410 HGNC:33101 VALIDATED 1345898 ZFAND6 zinc finger, AN1-type domain 6 ENCODES a protein that exhibits polyubiquitin binding (ortholog); INVOLVED IN cellular response to tumor necrosis factor; negative regulation of apoptotic process; regulation of I-kappaB kinase/NF-kappaB signaling; FOUND IN cytoplasm (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; arsane 15 15 15 q25.1 57289219 57367921 + 80351910 80430735 + 80059568 80138393 + 737633;6480464 12477932 11054541;11230166;11256614;14702039;15146197;15342556;15489334;15698998;16169070;16189514;16344560;19285159;20379614;20549515;20581827;20889853;21810480;21890473;21963094;22505724;22939629;23314748;23443559;24816145 54469 H0YK21;H0YK54;H0YLR2;H0YME2;H0YMG0;H0YMR5;H3BM82;H3BMJ5;H3BP46;H3BPX9;H3BT16;Q6FIF0 ABBA01060622;AC092701;AF061739;AF261138;AJ251095;AK055881;AK312646;AL136598;AMYH02030881;AW571396;BC005283;BG720174;BI562073;BP231220;BP234517;BX363429;CH471136;CN428457;CR533476;DA091136;DB050060;DR762914;KF456103;NM_001242911;NM_001242912;NM_001242913;NM_001242914;NM_001242915;NM_001242916;NM_001242917;NM_001242918;NM_001242919;NM_019006;XM_006720574 AAD17528;AAG44674;AAH05283;ABZ92339;ACE86853;ACE87540;BAG35530;CAB66533;CAC14876;CAG38507;EAW99122;EAW99123;EAW99124;EAW99125;EAW99126;EAW99127;NP_001229840;NP_001229841;NP_001229842;NP_001229843;NP_001229844;NP_001229845;NP_001229846;NP_001229847;NP_001229848;NP_061879;Q6FIF0;XP_006720637 Hs.596679;Hs.744030 1337490;1690498;2120836;2130201 D15S969;RH94373;WI-11220;WI-15537 AWP1;ZA20D3;ZFAND5B AN1-type zinc finger protein 6;OTTHUMP00000185562;associated with PRK1 protein;protein associated with PRK1;zinc finger A20 domain-containing protein 3;zinc finger, A20 domain containing 3 protein-coding ENSG00000086666 HGNC:30164 18314 610183 VALIDATED 2290026 ZFAT-AS1 ZFAT antisense RNA 1 This gene encodes a small antisense RNA that may be involved in regulating the sense strand locus, zinc finger and AT hook domain containing. This RNA may play a role in B cell function. A single nucleotide polymorphism in the promoter of this gene is associated with an increased risk of autoimmune thyroid disease.[provided by RefSeq, Jan 2010] 8 8 8 q24.22 131783466 131786084 + 135610314 135612932 + 134598071 134600689 + 15294872;22894909 594840 AB167742;ABBA01012700;AC015599;AMYH02018821;NG_016356;NR_002438 Hs.626298 NCRNA00070;SAS-ZFAT;ZFAT-AS ZFATAS APPROVED ncrna ENSG00000248492 HGNC:33992 REVIEWED 1606690 ZFC3H1 zinc finger, C3H1-type containing ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN RNA processing (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH arsane; arsenic atom; atrazine 12 12 12 q21.1 71665713 71720096 - 72003379 72057749 - 71609599 71663969 - 6480464;8554872 12477932;16189514;18029348;19596686;21139048;21832049;21890473;22113938;22939629;23275563;24239288;24639526;9628581 196441 G3V1X1;O60293 AB011118;ABBA01026512;ABBA01026513;AC073612;AC078860;AI015547;AK125035;AMYH02026737;AMYH02026738;BC015679;BC064336;BC073843;BX647709;CH471054;NM_144982 AAH64336;AAH73843;AAI52904;AAI56733;BAA25472;BAC86028;EAW97260;EAW97261;EAW97262;EAW97263;EAW97264;NP_659419;O60293 Hs.245798;Hs.527874 1335874;2107367;2126042;2159544;2160197 AF021117;D12S80;MGC23401__7691;RH77945;SGC38359 CCDC131;DKFZp686A0722;KIAA0546;MGC23401;MGC90200;PSRC2 OTTHUMP00000241507;OTTHUMP00000241508;coiled-coil domain containing 131;coiled-coil domain-containing protein 131;proline/serine-rich coiled-coil 2;proline/serine-rich coiled-coil protein 2;zinc finger C3H1 domain-containing protein protein-coding ENSG00000133858 HGNC:28328 14489 VALIDATED 1351762 ZFHX2 zinc finger homeobox 2 ENCODES a protein that exhibits metal ion binding (inferred); sequence-specific DNA binding (inferred); zinc ion binding (inferred); INVOLVED IN adult behavior (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; tunicamycin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 14 14 14 q11.2 3852721 3867194 - 23990064 24025199 - 23520855 23555990 - 1580863;6480464;8554872 10470851;10737800;11214970;12477932;15161980;18029348 85446 B7ZM83;B9EK48;C9JSX6;G3V3N5;Q9C0A1 AB028979;AB051549;ABBA01061321;AI093184;AL132855;AL135999;AMYH02028870;BC131533;BC144336;BC150606;BI008981;CH471078;NM_033400;XM_005268134;XM_005268135;XM_006720282 AAI31534;AAI44337;AAI50607;BAA83008;BAB21853;EAW66142;EAW66143;EAW66144;EAW66145;NP_207646;Q9C0A1;XP_005268191;XP_005268192;XP_006720345 Hs.508937 2101144;2110057;2110815;2113866;5022450 AB055275;D10S275;ZFHX2_4939;ZNF409__4840;stSG607119 FLJ17566;FLJ42478;KIAA1056;KIAA1762;MGC141820;ZFH-2;ZFH-5;ZNF409 OTTHUMP00000210950;zinc finger homeobox protein 2;zinc finger homeodomain protein 2;zinc finger protein 409 protein-coding ENSG00000136367 HGNC:20152 18318 VALIDATED 1346362 ZFHX4 zinc finger homeobox 4 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); zinc ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Autosomal dominant inheritance (inferred); Congenital ptosis (inferred); Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 8 8 8 q21.11 73586882 73772899 + 77593515 77779521 + 76681280 76867285 + 1580863;6480464;7240710;8699517;8554872 10873665;11935336;12477932;14702039;16344560;16946494;18029348;18391951;19913121;20379614;20546612;20628086;21139048;22505724;23667531;23667675;24440720 79776 E5RG79;E5RGK3;E5RHS1;E5RI93;E7EVZ1;H0YBV0;H0YC81;Q86UP3 AB083343;ABBA01041997;ABBA01041998;AC011716;AC023200;AC087110;AF086273;AK024633;AK095274;AK131399;AK131408;AK131462;AMYH02018253;AMYH02018254;AY260762;BC047745;BC074736;BC085610;BX649074;CA430749;CH471068;DA658176;KF511474;NM_024721 AAH47745;AAH74736;AAH85610;AAP20225;BAB14939;BAD18546;BAD18607;BAE96598;EAW87049;EAW87050;EAW87051;NP_078997;Q86UP3 Hs.458973 1334857;1673205;1710922;1716883;1764725;2160449;2161941;2166267;2186521;2219762;5492649 D8S1081;D8S1134;RH121734;RH45950;RH68544;SHGC-148315;SHGC-57975;SHGC-84084;STS-AA010197;UniSTS:481900;ZFH4__4938 FLJ16514;FLJ20980;ZFH-4;ZFH4;ZHF4 OTTHUMP00000226942;OTTHUMP00000226948;zinc finger homeobox protein 4;zinc finger homeodomain protein 4;zinc-finger homeodomain protein 4 protein-coding ENSG00000091656 HGNC:30939 09503 178300;606940 VALIDATED 1319399 ZFHX3 zinc finger homeobox 3 This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 16 16 16 q22.3 57132611 57398274 - 72816784 73092534 - 72782885 73058635 - 1580863;2315696;2315697;2315694;2315695;6480464;7240710;8554872 11812077;15671546;15750593;16637072 10318867;10493829;10855793;11312261;12477932;14654895;14715251;15616553;16189514;16932943;17081983;1719379;17330845;17671116;18312352;18416817;18796146;19035517;19132087;19322201;19471022;19597491;19597492;20201926;20379614;20586826;20599712;20854080;20876357;21107608;21347282;21367855;22452784;22544366;22791392;22916037;23041239;23042660;23132824;23144151;23159610;23251482;23317484;7592926;8666409;9171351 463 Q15911;Q8N2Y6 ABBA01016805;ABBA01016806;ABBA01016807;ABBA01016808;ABBA01016809;ABBA01016810;ABBA01016811;AC002044;AC004943;AC116667;AC132068;AMYH02032346;AMYH02032347;AMYH02032348;AMYH02032349;AMYH02032350;AMYH02032351;AMYH02032352;AMYH02032353;AY424268;BC029653;BC043190;CH471166;D10250;L32832;NG_013211;NM_001164766;NM_006885;XM_005255957 AAC14462;AAC31674;AAC79153;AAH29653;AAR26475;BAA01095;EAW59168;EAW59169;EAW59170;NP_001158238;NP_008816;Q15911;XP_005256014 Hs.598297 1713295;1714503;1783404;1850181;2125489;2136251;2143209;2148736;2219016 ATBF1_4388;RH119763;RH120639;RH65127;RH65836;RH68561;RH69880;SHGC-154914;WI-22495 ATBF1;ATBT;ZFH-3;ZNF927 AT motif-binding factor 1;AT-binding transcription factor 1;OTTHUMP00000174934;alpha-fetoprotein enhancer binding protein;alpha-fetoprotein enhancer-binding protein;zinc finger homeobox protein 3;zinc finger homeodomain protein 3 APPROVED protein-coding ENSG00000140836 HGNC:777 00075 104155;176807 REVIEWED 1351790 ZFP1 ZFP1 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; formaldehyde; valproic acid 16 16 16 q23.1 59475364 59499098 + 75182392 75206132 + 75148494 75172234 + 6480464;8554872 12477932;14702039;15489334;19844255;20360068;20562864;21540836;21890473;21906983;22505724;23000965;24250222;2574853 162239 H3BM94;H3BV40;J3KNQ1;Q6P2D0 ABBA01058124;AC009078;AC099508;AK091562;AK094761;AK291372;AK296560;AK308134;AL038510;AL038511;AL538214;AMYH02032394;AMYH02032395;BC033774;BC064604;BC113863;BC114471;BC127184;BX647144;CH471114;NM_153688;XM_005255815;XM_005255817;XM_005255819;XM_005255820;XM_006721155 AAH33774;AAH64604;AAI13864;AAI14472;AAI27185;AAI60028;BAC04417;BAF84061;BAG59181;EAW95662;EAW95663;NP_710155;Q6P2D0;XP_005255872;XP_005255874;XP_005255876;XP_005255877;XP_006721218 Hs.388813 1698624;2167215 RH102867;SHGC-57025 FLJ34243;ZNF475;zfp-1 OTTHUMP00000174939;zinc finger protein 1 homolog;zinc finger protein 475 APPROVED protein-coding ENSG00000184517 HGNC:23328 15724 VALIDATED 6770867 ZFHX4-AS1 ZFHX4 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred); INTERACTS WITH valproic acid 8 8 8 q21.11 73516536 73588877 - 77523114 77595510 - 76610879 76683275 - 6480464;8554872 12477932;16344560 100192378 ABBA01041996;ABBA01041997;AC011716;AMYH02018251;AMYH02018252;AMYH02018253;BC037827;BF513146;DA140947;HG501362;NR_024360 Hs.596420 1660040;1778555;2127742 D8S460;RH77837;SHGC-57962 RP11-65D13.1 APPROVED ncrna ENSG00000253661 HGNC:44165 PREDICTED 1605971 ZFP14 ZFP14 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH methotrexate; trichostatin A; valproic acid 19 19 19 q13.12 33612110 33655026 - 36825355 36870126 - 36334453 36379224 - 6480464 10997877;12477932;21906983;22505724;23602568;24250222 57677 K7EM99;Q9HCL3 AB046779;ABBA01016208;AC092296;AK293103;AL699477;AMYH02036012;AMYH02036013;AMYH02036014;BC144691;BC152446;H17024;NM_001297619;NM_020917;XM_005259110 AAI52447;BAB13385;BAF85792;NP_001284548;NP_065968;Q9HCL3;XP_005259167 Hs.35524 1698454;1721725;2151818;5015404;5015961;5016781;5020740;5020946;5021228;5022463;5024413;5037552 D15S1477;D3S1673;D8S2279;G59727;GDB:312794;L17705;L17809;L17877;L17971;RH102776;SHGC-67307;WI-16083 KIAA1559;ZNF531;zfp-14 zinc finger protein 14 homolog;zinc finger protein 14-like;zinc finger protein 531 APPROVED protein-coding ENSG00000142065 HGNC:29312 17217 VALIDATED 1316368 ZEB2 zinc finger E-box binding homeobox 2 The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010] 2 2 2 q22.3 138854690 138990641 - 145141942 145277958 - 144384375 144520391 - 1599885;1580863;6480464;7240710;8554872;8699517 11279515 10400677;11430829;11448942;11477103;11592033;11595972;11891681;12149685;12161443;12175509;12451214;12477932;12714599;12743038;12743039;12746390;12920073;15006694;15026811;15121779;15231748;15342556;15384097;15489334;15742334;16053902;16061479;16169070;16273209;16344560;16532472;16568083;16688751;17060462;17082780;17203459;17360662;17585049;17855508;17932455;17958891;18029348;18182442;18259761;18376396;18411277;18829540;19006215;19183406;19215041;19322201;19336370;19381684;19486012;19651985;19706487;19830559;19842203;19931509;20074535;20145308;20219685;20301585;20301612;20375168;20379614;20424117;20515682;20551052;20585627;20634891;20682777;21079000;21139048;21411626;21426561;21518799;21529905;21645397;21747944;21832049;21890473;21890822;22042972;22103974;22213144;22227038;22311119;22350782;22393452;22414880;22486326;22685266;22761708;22892238;22949513;23052737;23143680;23184150;23251661;23312517;23312518;23352789;23376074;23381389;23412770;23427518;23466526;23479023;23658743;23667531;23813959;23933737;23974872;24005989;24127332;24130169;24165969;24306957;24576558;24722188;24769353;8889548;9628581;9853615 9839 C9JU62;C9JUQ1;E7ESP8;E7EUW9;E7EVG9;H7C0G0;O60315;U3KPV5;U3KQ33;U3KQ51 AB011141;AB015341;AB056507;AB193095;AB193096;ABBA01028051;ABBA01028052;ABBA01028053;AC009951;AC010130;AF085983;AF161345;AI341193;AI858477;AK124806;AK294928;AK308124;AK308445;AL118674;AMYH02004920;AMYH02004921;AY029472;BC025696;BC025730;BC035706;BC037975;BC060819;BC127101;BC127102;BP218652;BU688017;CH471058;DA305985;NG_016431;NM_001171653;NM_014795;NR_033258;XM_006712881;XM_006712882 AAF28905;AAI27102;AAI27103;AAK52081;AAX93269;AAX93276;BAA25495;BAA34798;BAB40819;BAD60927;BAD60928;BAH11928;EAX11575;EAX11576;EAX11577;NP_001165124;NP_055610;O60315;XP_006712944;XP_006712945 Hs.34871 1650417;1682660;1704872;1710344;1714067;1767868;1769178;1773428;1848175;1858171;2114188;2132995;2183184;5014051;5015619;5021872;5022200;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;L18426;RH119637;RH16338;RH16638;RH68819;RH69384;RH98161;SHGC-32375;SHGC-32856;SHGC-35092;SHGC-79910;SHGC-82424;STS-T23699;WI-17978;sY3084 FLJ42816;HSPC082;KIAA0569;SIP-1;SIP1;SMADIP1;ZFHX1B OTTHUMP00000162653;OTTHUMP00000204540;OTTHUMP00000204541;OTTHUMP00000204542;SMAD interacting protein 1;Smad-interacting protein 1;zinc finger E-box-binding homeobox 2;zinc finger homeobox 1b;zinc finger homeobox protein 1b APPROVED protein-coding HGNC:14881 05780 235730;605802 REVIEWED 1604799 ZFP2 ZFP2 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH silicon dioxide; trichostatin A; valproic acid 5 5 5 q35.3 173950355 173987691 + 178322899 178360213 + 178895915 178933209 + 6480464;8554872 12477932;15231748;20211142;22505724 80108 E5RJD3;Q6ZN57 ABBA01010008;ABBA01010009;AC104117;AC126915;AK025281;AK131367;AMYH02012867;BC132779;BC132781;BC142989;BC144213;BC144216;NM_030613 AAI32780;AAI32782;AAI42990;AAI44214;AAI44217;ADR82991;ADR83165;BAB15104;BAD18518;NP_085116;Q6ZN57 Hs.654533 1774742;1785680;1849013;1849015;2146426;5492387 A005N34;G20358;SHGC-13266;SHGC-77987;STS-R02328;UniSTS:480899 FLJ21628;ZNF751;zfp-2 OTTHUMP00000161485;OTTHUMP00000224387;OTTHUMP00000225381;OTTHUMP00000225382;zinc finger protein 2 homolog;zinc finger protein 751 APPROVED protein-coding ENSG00000198939 HGNC:26138 08639 PROVISIONAL 1346211 ZFP3 ZFP3 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; atrazine; valproic acid 17 17 17 p13.2 4999378 5017292 + 4981754 4999669 + 5078459 5096374 + 6480464 12477932;14702039;15342556 124961 Q6ZUG2;Q96NJ6 ABBA01054793;ABBA01054794;AC012146;AK055288;AK125731;AK290549;AMYH02032843;BC142962;BP250703;BX647638;CH471108;NM_153018 AAI42963;AAI43074;AAI43075;BAB70898;BAC86263;BAF83238;EAW90362;NP_694563;Q96NJ6 Hs.48832 1647107;1697142;2160947 RH102057;RH66195;STS-AA018406 FLJ30726;ZNF752;zfp-3 zinc finger protein 3 homolog;zinc finger protein 752;zinc finger protein homologous to Zfp-3 in mouse;zinc finger protein-3 APPROVED protein-coding ENSG00000180787 HGNC:12861 08705 194480 VALIDATED 1605092 ZFP30 ZFP30 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH formaldehyde; valproic acid; vanadyl sulfate 19 19 19 q13.12 34924083 34947014 - 38123386 38148129 - 37632488 37655465 - 6480464 10231032;12477932;15489334;16344560;19851296;20198315;24250222;7849402 22835 D3Y2A0;K7EK76;K7EMM3;K7EPH5;Q9Y2G7 AB023178;ABBA01040631;AC022148;AC093227;AK297301;AMYH02036046;BC041087;BC050542;CH471126;DA479602;GU388430;NM_014898;XM_005258665;XM_006723087;XM_006723088;XM_006723089 AAH41087;ABZ92306;ADC93803;BAA76805;BAG59769;EAW56743;EAW56744;EAW56745;NP_055713;Q9Y2G7;XP_005258722;XP_006723150;XP_006723151;XP_006723152 Hs.716719;Hs.722657 1701192;5016596;5022578;5109281 D1S1423;D1S1425;GDB:631802;RH104224 KIAA0961;ZNF745;zfp-30 OTTHUMP00000045852;zinc finger protein 30 homolog;zinc finger protein 745 APPROVED protein-coding ENSG00000120784 HGNC:29555 17201 VALIDATED 1347669 ZFP28 ZFP28 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsenite(3-); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); chloroprene (ortholog) 19 19 19 54093305 54111158 + 57050317 57068170 + 56538948 56556801 + 1580863;6480464 10718198;12127974;12477932;15489334;19329283;21900206;22505724;23455924;24250222 140612 K7EL00;Q8NHY6 AB037852;ABBA01020832;AC005498;AC007228;AF226995;AF507045;AK289583;AMYH02036495;BC028416;BC099903;BC127002;BC127003;CH471135;CR749659;NM_020828;XM_005258523 AAC32423;AAD23606;AAH28416;AAH99903;AAI27003;AAI27004;AAK28320;AAM28892;BAA92669;BAF82272;CAH18453;EAW72463;EAW72464;EAW72465;NP_065879;Q8NHY6;XP_005258580 Hs.14794 1783844;2122914 SHGC-172289;STS-H93611 DKFZp686K03205;KIAA1431;MGC104540;mkr5;zfp-28 krueppel-like zinc finger factor X6;zinc finger factor X6;zinc finger protein 28 homolog APPROVED protein-coding ENSG00000196867 HGNC:17801 15725 PROVISIONAL 1318953 ZFP36L2 ZFP36 ring finger protein-like 2 This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. [provided by RefSeq, Jul 2008] 2 2 2 p22.3-p21 43288996 43293200 - 43449541 43453745 - 43222402 43226606 - 1580863;6480464 12477932;14604009;14981510;15489334;17172869;17979178;20506496;21109922;21145461;21151128;21278925;21509594;21963094;24255178;7835719;8545129;8889549 678 P47974 ABBA01075087;AC010883;AMYH02003692;BC005010;BC020369;BE222042;BI489986;BI548620;CH471053;N67537;NM_006887;U07802;X78992 AAA91778;AAH05010;AAY14992;ABM84325;ABM87781;CAA55592;EAX00305;EAX00306;NP_008818;P47974 Hs.503093 1672351;1734236;1735806;2126070;2144949;2148607 D2S1494E;D2S2709;D8S1420E;RH66801;SGC34340;SHGC-30127 BRF2;ERF-2;ERF2;RNF162C;TIS11D EGF-response factor 2;OTTHUMP00000158808;ZFP36-like 2;butyrate response factor 2;zinc finger protein 36, C3H type-like 1;zinc finger protein 36, C3H type-like 2;zinc finger protein 36, C3H1 type-like 2;zinc finger protein, C3H type, 36-like 2 APPROVED protein-coding ENSG00000152518 HGNC:1108 18319 612053 REVIEWED 736935 ZFP37 ZFP37 zinc finger protein This gene encodes a transcription factor that belongs to a large family of zinc finger proteins. A similar protein in mouse is thought to play a role in regulating the structures of the nucleolus and centromere in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 9 9 9 q32 86148311 86163133 + 115804144 115819043 - 113041815 113056791 - 1580863;6480464;8554872 12477932;16344560;9535899;9585434 7539 Q9Y6Q3 ABBA01042692;AF022158;AI002852;AI005346;AK301275;AL162588;AMYH02021496;BC126390;BC144145;CH878453;DA738387;NM_001282515;NM_001282518;NM_003408 AAC28425;AAI26391;ADR83336;BAG62836;EAW50556;NP_001269444;NP_001269447;NP_003399;Q9Y6Q3 Hs.150406 1699676;1760049 RH103443;SHGC-68309 FLJ38524;ZNF906;zfp-37 OTTHUMP00000022750;OTTHUMP00000244044;OTTHUMP00000244045;Zinc finger protein-37, mouse, homolog of;zinc finger protein 37;zinc finger protein 37 homolog;zinc finger protein homologous to Zfp37 in mouse APPROVED protein-coding ENSG00000136866 HGNC:12863 04258 602951 REVIEWED 732154 ZFP36L1 ZFP36 ring finger protein-like 1 This gene is a member of the TIS11 family of early response genes, which are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. This gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 14 14 14 q22-q24 49313123 49318532 - 69254372 69263184 - 68787655 68796243 - 1580863;6480464 12477932;14604009;14702039;15342556;15465005;15467755;15489334;16169070;16189514;16344560;17030608;18326031;18418350;19092855;19322201;19417104;19417105;19430480;19801654;20166898;20190752;20702587;20967262;21044950;21102463;21278925;21833088;21906983;22505724;23000965;23128233;23535732;24086717;8024689;8346037;8595910;8889548;8898945 677 B3KNA8;G3V2D5;G3V2P5;G3V382;G3V515;Q07352 ABBA01023685;AI809725;AK024202;AK294363;AK303917;AL132986;AMYH02029424;BC018340;BM712842;BP353132;BQ004874;BQ894292;BT019468;CH471061;DA633985;DA876968;DR423896;FY210721;NM_001244698;NM_001244701;NM_004926;X79066;X79067;X99404 AAH18340;AAV38275;ABM82275;ABM85455;BAG51270;BAG57626;BAG64845;CAA55670;CAA67781;EAW80967;EAW80968;NP_001231627;NP_001231630;NP_004917;Q07352 Hs.707091;Hs.85155 1653833;1662036;1669037;1677148;1791812;2124871;2158360 G15966;PMC126184P2;RH68093;RH70918;RH70919;SHGC-12024;SHGC-64127 BRF1;Berg36;ERF-1;ERF1;RNF162B;TIS11B;cMG1 EGF-response factor 1;OTTHUMP00000245935;butyrate response factor 1;early response factor Berg36;zinc finger protein 36, C3H type-like 1;zinc finger protein 36, C3H1 type-like 1;zinc finger protein, C3H type, 36-like 1 APPROVED protein-coding ENSG00000185650 HGNC:1107 03041 601064 REVIEWED 1349108 ZFP40 zinc finger protein 40 homolog (mouse) 7540 HGNC:12864 1322045 ZFAT zinc finger and AT hook domain containing This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009] 8 8 8 q24.22 131694988 131897996 - 135490031 135725292 - 134477788 134713049 - 1580863;6480464;8554872 10819331;11440990;12477932;14702039;15294872;15489334;18329245;19162026;19847924;20379614;20453441;20549515;20645017;20881960;21988832;21998595;22589738;22706687;22894909;8889548 57623 B7Z6H1;E5RGN2;E5RH37;E5RJL9;E5RJT2;E9PBN4;F8W7M8;H0YBJ1;H0YC51;Q4KMQ4;Q6PJQ2;Q9P243 AB040918;AB167738;AB167739;AB167740;AB167741;ABBA01012699;ABBA01012700;ABBA01012701;AC015599;AC087045;AC135075;AK094089;AK300133;AK300324;AK300471;AK301413;AK311494;AL832066;AMYH02018821;BC012989;BC025423;BC039059;BC046180;BC070097;BC098405;BC101766;BC101768;BC143519;BI964061;BM685256;CH471060;DC333809;KF458872;NG_016356;NM_001029939;NM_001167583;NM_001174157;NM_001174158;NM_001289394;NM_020863;NR_110323;XM_006716611 AAH12989;AAH25423;AAH46180;AAH98405;AAI01767;AAI01769;AAI43520;BAA96009;BAD12567;BAD12568;BAD12569;BAD12570;BAH13220;BAH13257;BAH13290;BAH13477;EAW92179;NP_001025110;NP_001161055;NP_001167628;NP_001167629;NP_001276323;NP_065914;Q9P243;XP_006716674 Hs.446172 1338546;1646545;1649335;1650936;1696084;1747129;1752113;1771209;2185408;2185410;5112093 A005O43;D8S1624;D8S1710;G20385;G64002;RH41946;SHGC-106070;SHGC-79106;SHGC-79115;WI-11309;WI-16742 AITD3;KIAA1485;MGC126815;MGC126817;ZFAT1;ZNF406 OTTHUMP00000226455;OTTHUMP00000226456;OTTHUMP00000226457;OTTHUMP00000226458;OTTHUMP00000226460;OTTHUMP00000226461;OTTHUMP00000226463;ZFAT zinc finger 1;zinc finger gene in autoimmune thyroid disease;zinc finger protein 406;zinc finger protein ZFAT;zinc-finger gene in AITD susceptibility region APPROVED protein-coding ENSG00000066827 HGNC:19899 11712 610931 REVIEWED 1606971 ZFP42 ZFP42 zinc finger protein ENCODES a protein that exhibits metal ion binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN female gonad development; male gonad development; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH all-trans-retinoic acid; arsenite(3-); elemental selenium 4 4 4 q35.2 186226500 186235743 + 188916925 188926199 + 187995771 188005045 + 6480464;8554872 12110702;14688391;14702039;15146197;15790780;16344273;16865673;17211834;18281244;20232320;21446939;21530438;21906983;23939908 132625 Q96MM3 ABBA01070585;ABBA01070586;AC108073;AF450454;AK056719;AMYH02010701;AX399986;AY429593;BE301754;CH471056;CN420210;NM_174900 AAI60056;AAL47167;AAR07993;BAB71264;CAD33430;EAX04610;EAX04611;EAX04612;NP_777560;Q96MM3 Hs.335787 1687908;5022200;5022588;5493079 D5S1597E;L18426;RH38986;UniSTS:484166 REX-1;REX1;ZNF754;hREX-1;zfp-42 OTTHUMP00000217833;OTTHUMP00000217834;REX1 transcription factor;reduced expression protein 1;zinc finger protein 42 homolog;zinc finger protein 754 APPROVED protein-coding ENSG00000179059 HGNC:30949 15726 614572 VALIDATED 1606662 ZFP41 ZFP41 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; dioxygen; manganese atom 8 8 8 q24.3 140638670 140654116 + 144328991 144344875 + 143246821 143262705 + 6480464 11214971;12477932;1397691;14702039 286128 Q69YS5;Q8N8Y5 ABBA01005261;ABBA01005262;AC138696;AK021976;AK024438;AK096024;AL831951;AMYH02018937;AW576245;BC034608;CH471162;CR992458;DA092421;DA216172;KF458885;NM_001271156;NM_173832 AAH34608;BAB15728;BAC04676;CAH10581;EAW82273;EAW82274;EAW82275;NP_001258085;NP_776193;Q8N8Y5 Hs.668016 1694620;1722323;1786848;2169424;5022200;5022651 A009A25;D11S2921;G43337;G60228;L18426;SHGC-172469 DKFZp761O1618;FLJ00028;FLJ38705;ZNF753;zfp-41 OTTHUMP00000228002;zinc finger protein 41 homolog APPROVED protein-coding ENSG00000181638 HGNC:26786 08244 VALIDATED 1346738 ZFP64P1 ZFP64 zinc finger protein pseudogene 1 14 14 14 q22.1 31037723 31039240 - 51170712 51172229 - 50703994 50705511 - 20125193 319123 ABBA01018142;AL606834;AMYH02029169;NG_002504 ZNF405P APPROVED pseudo HGNC:19820 INFERRED 1353379 ZFP62 ZFP62 zinc finger protein ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 1-nitropyrene; copper(2+) sulfate; ethyl methanesulfonate 5 5 5 q35.3 175898535 175912206 - 180272435 180288334 - 180845435 180861338 - 1580863;6480464 12477932;14702039;15146197;16344560;17924679;20379614;21890473;22505724;23000965;8808410 643836 D6R9C0;D6RBG3;D6RCF6;Q8NB50 ABBA01010086;AC016572;AC022413;AI269000;AI689837;AK002206;AK091376;AK091550;AK295714;AK303450;AL832408;AMYH02012913;AMYH02012914;BC029573;BC140761;BC171780;DA216419;DA323041;NM_001172638;NM_152283;XM_005265963;XM_005265964;XM_006714905;XM_006714906;XM_006714907;XM_006714908;XM_006714909;XM_006714910 AAI40762;AAI71780;BAC03691;BAG58558;BAG64495;CAI46133;NP_001166109;NP_689496;Q8NB50;XP_005266020;XP_005266021;XP_006714968;XP_006714969;XP_006714970;XP_006714971;XP_006714972;XP_006714973 Hs.509227;Hs.735373 2140610;2220020 WI-15997;ZFP62__4944 DKFZp667F2013;FLJ11344;FLJ34057;FLJ34231;FLJ58781;FLJ59694;MGC176438;ZET;ZNF755;zfp-62 OTTHUMP00000221794;OTTHUMP00000221813;OTTHUMP00000221814;OTTHUMP00000221815;OTTHUMP00000221816;zinc finger protein 62 homolog APPROVED protein-coding ENSG00000196670 HGNC:23241 610281 VALIDATED 1344217 ZFP57 ZFP57 zinc finger protein The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009] 6 6 6 p22.1 31246246 31251015 - 29640169 29644931 - 29672392 29681136 - 6480464;7240710;8554872;8699517;8695954 23324617 12477932;15070898;18622393;18854139;19632365;19851445;20301706;21863059;22055183;23499433;23748067;24135613;8120052 346171 B7ZW61;Q9NU63 ABBA01038034;ABBA01038035;AL050328;AL645936;AL669813;AL929591;AMYH02013415;BC157878;BC171888;BX120002;BX927250;CR388408;CR759766;CR936483;NG_013045;NM_001109809;XM_006715087;XM_006725485;XM_006725486;XM_006725487;XM_006725701;XM_006725818;XM_006725910;XM_006726000;XM_006726093 AAI57879;AAI71888;AAI72354;CAB89275;NP_001103279;Q9NU63;XP_006715150;XP_006725548;XP_006725549;XP_006725550;XP_006725764;XP_006725881;XP_006725973;XP_006726063;XP_006726156 Hs.156326 1743295;1785928;1789609;2163338;2189641;2189643;2220066;2220068;2220070;2220074;2220312 D6S2831;D6S2832;D6S2869;D6S2909;GDB:314693;JA07;MOGCA;MOGb;MOGc;SHGC-143535;STS-Z48051 C6orf40;TNDM1;ZNF698;bA145L22;bA145L22.2;zfp-57 OTTHUMP00000065879;OTTHUMP00000215586;chromosome 6 open reading frame 40;zinc finger protein 57 homolog;zinc finger protein 698 APPROVED protein-coding ENSG00000204644 HGNC:18791 601410;612192 REVIEWED 1317439 ZFP64 ZFP64 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-azacytidine; all-trans-retinoic acid; benzo[a]pyrene 20 20 20 q13.2 47405209 47513189 - 50700550 50808524 - 52084011 52191985 - 6480464;8554872 11780052;12477932;14702039;15489334;16169070;16189514;17362836;20211142;20306291;20531441;22589738;22990118;24163370;24457600;8125298;9034307 55734 A2A2N5;A2A2N6;B3KQX0;H0Y669;Q9NPA5;Q9NTW7 ABBA01052828;ABBA01052829;ABBA01052830;ABBA01052831;ABBA01052832;AK001596;AK001744;AK022690;AK024671;AK090547;AK222712;AL109984;AL121771;AMYH02037276;AMYH02037277;AMYH02037278;AMYH02037279;AX879616;BC012759;BC021087;BC031524;BC041622;BT009760;CH471077;NM_018197;NM_022088;NM_199426;NM_199427;XM_005260449;XM_005260450;XM_006723821;XM_006723822 AAH12759;AAH41622;AAP88762;BAA91777;BAA91876;BAB14182;BAD96432;BAG52182;CAE90589;EAW75590;EAW75591;EAW75592;EAW75593;NP_060667;NP_071371;NP_955458;NP_955459;Q9NPA5;Q9NTW7;XP_005260506;XP_005260507;XP_006723884;XP_006723885 Hs.473082 1661065;1688156;1769072;2148396;5022651 D11S2921;RH36377;RH94187;SHGC-31784;SHGC-58065 MGC940;ZNF338 OTTHUMP00000031300;OTTHUMP00000031301;OTTHUMP00000031302;OTTHUMP00000031305;OTTHUMP00000165904;zinc finger protein 338;zinc finger protein 64;zinc finger protein 64 homolog APPROVED protein-coding ENSG00000020256 HGNC:15940 15728 VALIDATED 1343701 ZFP69 ZFP69 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); formaldehyde; quercetin 1 1 1 p34.2 39225688 39244405 + 40943043 40962015 + 40477215 40496343 + 6480464 10737800;12477932;14702039;15489334;16344560;16710414;19578398;20379614;8889548 339559 Q49AA0 ABBA01023174;ABBA01023175;AK122618;AL603839;AMYH02000854;AMYH02000855;BC041873;BC078148;BC144174;BM677727;CH471059;CV374692;CX871163;DA687888;NM_198494;XM_005270808;XM_005270809;XM_005270810;XM_006710605;XM_006710606;XM_006710607 AAH41873;BAC85492;EAX07215;NP_940896;Q49AA0;XP_005270865;XP_005270866;XP_005270867;XP_006710668;XP_006710669;XP_006710670 Hs.434385 FLJ16030;RP11-656D10.2;ZFP69A;ZKSCAN23A;ZNF642;ZSCAN54A OTTHUMP00000008381;OTTHUMP00000008382;ZFP69 zinc finger protein A;zinc finger protein 642;zinc finger protein ZFP69 APPROVED protein-coding ENSG00000187815 HGNC:24708 15883 VALIDATED 1350662 ZFP69B ZFP69 zinc finger protein B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 1 1 1 p34.2 39198705 39211763 + 40915774 40929390 + 40450102 40463718 + 737633;1580863;6480464 12477932 14702039;15146197;15489334;24250222 65243 D3DPV3;E9PS66;Q9UJL9 ABBA01023175;ABBA01023176;AK091612;AL031985;AL137241;AMYH02000854;BC017498;CH471059;CN256362;NM_023070;XM_005271136;XM_005271137;XM_005271138;XM_005271139 AAH17498;ABZ92050;ADZ15976;BAG52392;CAB70626;EAX07216;EAX07217;EAX07218;EAX07219;NP_075558;Q9UJL9;XP_005271193;XP_005271194;XP_005271195;XP_005271196 Hs.133034 FLJ34293;RP11-656D10.1;ZKSCAN23B;ZNF643;ZSCAN54B OTTHUMP00000008379;OTTHUMP00000228583;novel zinc finger protein;zinc finger protein 643;zinc finger protein ZFP69B APPROVED protein-coding ENSG00000187801 HGNC:28053 15884 VALIDATED 737182 ZFP36 ZFP36 ring finger protein ENCODES a protein that exhibits 14-3-3 protein binding; AU-rich element binding; C-C chemokine binding; INVOLVED IN 3'-UTR-mediated mRNA stabilization; mRNA catabolic process; negative regulation of transcription from RNA polymerase II promoter; FOUND IN cytoplasm; cytoplasmic stress granule; cytosol; INTERACTS WITH (S)-nicotine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 19 19 19 q13.1 36699177 36701735 + 39897487 39900052 + 39406847 39409412 + 1580863;6480464 10330172;10751406;11748221;11782475;11886850;12115244;12440952;12477932;12515557;12578825;12578839;12639954;12646273;12705825;12748283;12751757;12754205;12823857;14604009;14679154;14688255;14766228;15014438;15067324;15117938;15170914;15187092;15187101;15231747;15280467;15489334;15504035;15535838;15766526;15778452;16189514;16262601;16364915;16546352;16596264;16614304;16820934;16935542;1699942;17369404;17517366;17546847;17599736;17606294;17855506;17893259;18029348;18250465;18367721;18536977;18814951;19258311;19363120;19654331;19697322;19738286;19962963;19995385;20038433;20042592;20157568;20211142;20221403;20335167;20498646;2062660;20691152;20828164;21078877;21278925;21507959;21593445;21606497;21611196;21656745;21775632;21784977;21818148;21830391;21832049;21875902;21964062;2204625;22094256;22138182;22203041;22203679;22210895;22268119;22387927;22426177;22428029;22433566;22452791;22544323;22700982;22863009;22865915;22907529;22918951;22960231;22968621;23030431;23212617;23241166;23269677;23349315;23401122;23525947;23583445;23595149;23644599;23744329;24253039;24737323;25056949;7768935;8422274;8478004;9703499 7538 M0QY76;M0QZ04;M0R0H3;M0R252;P26651 ABBA01040729;AC011500;AK314042;AMYH02036093;AY771351;BC009693;BM055332;CH471126;HI574314;M63625;M92843;M92844;NM_003407 AAA58489;AAA61240;AAC37600;AAH09693;AAV28731;ABZ92243;ACE86842;ACE87529;BAG36751;CBX47646;EAW56885;EAW56886;NP_003398;P26651 Hs.534052 1646990;1675363;1686176;1734628;1794586;1797202;1852956 D19S633E;PMC321570P3;RH80286;RH81038;STS-H28008;STS-M92843;ZFP36 G0S24;GOS24;NUP475;RNF162A;TIS11;TTP;zfp-36 G0/G1 switch regulatory protein 24;growth factor-inducible nuclear protein NUP475;tristetraprolin;tristetraproline;zinc finger protein 36;zinc finger protein 36 homolog;zinc finger protein 36, C3H type, homolog;zinc finger protein, C3H type, 36 homolog APPROVED protein-coding ENSG00000128016 HGNC:12862 01835 190700 VALIDATED 1345340 ZFP82 ZFP82 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); atrazine; fonofos 19 19 19 q13.12 33667812 33694507 - 36882861 36909550 - 36391959 36418648 - 737633;1580863;6480464;8554872 12477932 11853319;14702039;15489334;20562864;22580414 284406 D3Y299;K7ERD5;Q8N141 AB075828;ABBA01016207;ABBA01016208;AC092296;AK074942;AK315709;AL834267;AMYH02036014;AMYH02036015;BC032577;GU388429;NM_133466;XM_005258810;XM_006723165 AAH32577;ABZ92158;ACE86866;ACE87554;ADC93802;BAB85534;BAC11308;CAD38942;NP_597723;Q8N141;XP_005258867;XP_006723228 Hs.558734 2140625;2177603;5022200;5022578;5022651;5024898;5037552;5109281 A005D28;D11S2921;D1S1423;D1S1425;D6S2794;D8S2279;L18426;STS-N51567 KIAA1948;MGC45380;ZNF545;zfp-82 OTTHUMP00000232098;zinc finger protein 545;zinc finger protein 82 homolog;zinc finger protein 85 APPROVED protein-coding ENSG00000181007 HGNC:28682 11725 PROVISIONAL 1642406 ZFP91-CNTF ZFP91-CNTF readthrough (NMD candidate) This gene represents a read-through transcript composed of ZFP91 and CNTF sequence. This transcript is thought to be non-coding because it would be subject to nonsense-mediated mRNA decay (NMD). Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Aug 2008] 11 11 11 q12.2 55705690 55752306 + 58346587 58393206 + 58579114 58625733 + 6480464 11058868;11361095;12477932;12738986;15009096;15302935;16400609;16582619;17081983;1840538;19322201;20967262;23349640 386607 H3BTR0 AB057443;ABBA01021490;ABBA01021491;AMYH02024860;AP001350;BG721319;NR_024091 BAB63374 Hs.524920 1342203;1651758;1668662;1672557;1682974;1737993;1742269;1743609;1752531;1768697;1777786;1797416;2110061;2113960 CNTF;CNTF_1913;D11S3594;D11S4202;D11S4596;GDB:194646;GDB:360980;RH78256;RH79883;SHGC-106382;SHGC-30116;STS-AA036951;WI-12111;ZFP91__4947 MGC51126 APPROVED ncrna ENSG00000255073 HGNC:33441 VALIDATED 1354161 ZFP91 ZFP91 zinc finger protein The protein encoded by this gene is a member of the zinc finger family of proteins. The gene product contains C2H2-type domains, which are the classical zinc finger domains found in numerous nucleic acid-binding proteins. This protein functions as a regulator of the non-canonical NF-kappaB pathway in lymphotoxin-beta receptor signaling. Alternative splicing results in multiple transcript variants. A read-through transcript variant composed of ZFP91 and the downstream CNTF gene sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. A ZFP91-related pseudogene has also been identified on chromosome 2. [provided by RefSeq, Oct 2010] 11 11 11 q12 55705690 55747615 + 58346587 58389023 + 58579114 58621550 + 6480464 11058868;11361095;11483580;12477932;12738986;15009096;15302935;15342556;15489334;15576338;16582619;17081983;18029348;19322201;19471022;20434516;20682767;20804734;21890473;21987572;22190034;22939629;23000965;23349640;24457600;24816145;7835706 80829 Q96JP5 AB056107;ABBA01021490;ABBA01021491;AF305825;AF310246;AI687439;AJ270692;AK025502;AK295700;AMYH02024860;AP001350;AP003557;BC051743;BP219969;CH471076;NM_001197051;NM_053023 AAH51743;AAK55528;AAL09963;BAB63373;BAG58548;EAW73811;EAW73813;EAW73816;EAW73817;EAW73818;NP_001183980;NP_444251;Q96JP5 Hs.524920 1342203;1651758;1668662;1672557;1682974;1737993;1752531;1777786 D11S3594;D11S4202;RH78256;RH79883;SHGC-106382;SHGC-30116;STS-AA036951;WI-12111 DMS-8;DSM-8;FKSG11;FLJ57065;PZF;ZFP-91;ZNF757 E3 ubiquitin-protein ligase ZFP91;OTTHUMP00000174732;OTTHUMP00000196612;OTTHUMP00000196613;OTTHUMP00000232451;drug resistance-associated sequence in melanoma 8;penta zinc finger protein;zinc finger protein 757;zinc finger protein 91 homolog;zinc finger protein homologous to Zfp91 in mouse APPROVED protein-coding ENSG00000186660 HGNC:14983 11700 REVIEWED 1344727 ZFP92 ZFP92 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) X X X q28 152917504 152920809 + 152676957 152691939 + 153411499 153426481 + 6480464 10854409;9099879 139735 A6NM28 ABBA01045403;AK057819;AMYH02040833;HG512775;NM_001136273;U82695;XM_005274652 A6NM28;NP_001129745;XP_005274709 Hs.534554;Hs.552181 ZNF897;zfp-92 zinc finger protein 92 homolog;zinc finger protein homologous to Zfp92 in mouse APPROVED protein-coding ENSG00000189420 HGNC:12865 VALIDATED 1350266 ZFP90 ZFP90 zinc finger protein ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN positive regulation of transcription, DNA-templated; FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; atrazine 16 16 16 q22.1 53082214 53109582 + 68573192 68609975 + 68539289 68576072 + 1580863;6480464 11853319;12477932;14702039;15489334;15852396;16344560;19915572;20379614;21107309;21297633;22174851;23128233;7576184 146198 H3BMI1;H3BVC6;I3L0T2;I3L0X7;I3L1L4;I3L2Q3;I3L3M0;J3QKQ8;L7S2P3;Q8TF47 AB075834;ABBA01025489;AC009162;AC126773;AK056596;AK074332;AK122847;AK123121;AK126167;AK304152;AK316251;AMYH02032250;BC033165;BC040486;BC040871;BC140886;BC140887;CH471092;DA803284;KC249978;NM_133458;XM_005255802;XM_005255803;XM_005255804;XM_005255805;XM_005255806;XM_006721136;XM_006721137;XR_429712 AAH33165;AAI40887;AAI40888;AGC13464;BAB71228;BAB85540;BAC86467;BAG53759;BAG65042;BAH14622;EAW83234;EAW83235;NP_597715;Q8TF47;XP_005255859;XP_005255860;XP_005255861;XP_005255862;XP_005255863;XP_006721199;XP_006721200 Hs.461074;Hs.709017 1340947;1650500;1665227;1769627;1850533;1854217;2111400;2119142;2119144;2138291;2143525;2143527;2153001;2171156;5110864 A002L44;A005R23;D11S1889;D11S1908;D16S2533E;DBEST27813;G20440;G29138;RH66667;RH68222;RH68732;SHGC-10921;SHGC-10922;SHGC-60815;SHGC-7464 FIK;NK10;ZNF756;zfp-90 FOXP3-interacting KRAB domain-containing protein;zinc finger protein 476;zinc finger protein 756;zinc finger protein 90 homolog APPROVED protein-coding ENSG00000184939 HGNC:23329 18729 609451 PROVISIONAL 9068537 ZFPM2-AS1 ZFPM2 antisense RNA 1 8 q23.1 105785200 105788661 - 102723356 ABBA01037676;AC090802;AC106856;AMYH02018567;AP005362;BF244158;BF977562;BU959299;NR_125796;NR_125797;XR_426349;XR_428396;XR_432342 Hs.571413 ncrna HGNC:50698 VALIDATED 1350269 ZFPL1 zinc finger protein-like 1 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN vesicle-mediated transport (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN Golgi apparatus; INTERACTS WITH atrazine; benzo[a]pyrene diol epoxide I; cyclosporin A 11 11 11 q13 62177992 62182172 + 64851694 64855874 + 65084222 65088402 + 1580863;6480464;8554872 12477932;12878157;14671302;15489334;16169070;18029348;18323775;21139048;24816145;9253601;9653652 7542 E9PJ47;E9PJX1;E9PMQ3;E9PNY1;E9PQ47;E9PQA5;H0YCU8;O95159 ABBA01024136;AF001891;AF030291;AF043611;AI207587;AK291964;AK295279;AK308740;AK316044;AMYH02024952;AP003068;AU279924;AY411288;BC012530;BC012814;CH471076;NM_006782 AAB86533;AAD08644;AAF21634;AAH12530;AAH12814;BAF84653;BAG58263;BAH14415;EAW74344;EAW74345;EAW74346;NP_006773;O95159 Hs.712317;Hs.98170 1663242;1689843;2004072;2155693;2220022 REN72948;RH11465;RH92166;SGC33858;ZFPL1__4949 D11S750;MCG4 OTTHUMP00000230383;OTTHUMP00000230384;zinc finger protein MCG4;zinc-finger protein in MEN1 region protein-coding ENSG00000162300 HGNC:12868 15729 VALIDATED 1314245 ZFPM1 zinc finger protein, FOG family member 1 ENCODES a protein that exhibits RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription; RNA polymerase II transcription factor binding; transcription factor binding; INVOLVED IN negative regulation of interleukin-4 biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; platelet formation; FOUND IN transcription factor complex; transcriptional repressor complex; INTERACTS WITH atrazine; coumestrol; diazinon 16 16 16 q24.2 73590446 73671847 + 88520014 88601574 + 88453606 88535166 + 1580863;6480464 11675338;12200364;12483298;15231747;15302935;15644435;15920471;16127162;17118455;17207461;18063754;18676680;19170196;19513100;19625176;19654328;19692168;20586925;21047798;21646796;21988832;24049095;24179092;9230307;9724649 161882 Q8IX07 ABBA01015836;ABBA01015837;ABBA01015838;ABBA01015839;ABBA01015840;AC116552;AC135049;AF488691;AMYH02032632;AMYH02032633;AMYH02032634;AMYH02032635;AMYH02032636;BE219988;CH471184;NM_153813 AAN45858;EAW66806;EAW66807;EAW66808;NP_722520;Q8IX07 Hs.632218 1339258;1722849;2117739 D16S3023;G60367;RH47756 FOG;FOG-1;FOG1;ZC2HC11A;ZNF408;ZNF89A friend of GATA 1;friend of GATA protein 1;friend of GATA-1;zinc finger protein 89A;zinc finger protein ZFPM1;zinc finger protein, multitype 1 APPROVED protein-coding HGNC:19762 11800 601950 VALIDATED 3277535 ZFRP1 zinc finger RNA binding protein pseudogene 1 1 X X q11.1 120244016 120244758 + 62103542 62104378 - 62884072 62884908 - 100129438 ABBA01027357;AMYH02039557;BX119964;NG_023000 pseudo HGNC:38030 INFERRED 1312353 ZFR2 zinc finger RNA binding protein 2 ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 19 19 19 p13.3 3741663 3806609 - 3804022 3869027 - 3804024 3869029 - 1580863;6480464;8554872 10470851;12477932;16344560 23217 B4DHD0;K7EKD7;K7EPY6;K7EQC0;Q9UPR6 AB029009;ABBA01002847;ABBA01002848;ABBA01002849;ABBA01002850;ABBA01002851;AC004598;AC005777;AC093078;AK295037;AL365406;AMYH02035264;AMYH02035265;BC034005;DA333602;NM_001145640;NM_015174;NR_027149 BAA83038;BAG58091;NP_001139112;NP_055989;Q9UPR6 Hs.65750 1646481;1687169;1699488;1734666;2120877;5021396 D19S670E;G18047;GDB:313783;RH103337;RH79663;WI-18563 KIAA1086 zinc finger RNA-binding protein 2 protein-coding ENSG00000105278 HGNC:29189 VALIDATED 1323583 ZFR zinc finger RNA binding protein ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN multicellular organismal development (inferred); FOUND IN nucleus; INTERACTS WITH (S)-nicotine; 2-methylcholine; benzo[a]pyrene diol epoxide I 5 5 5 p13.3 32236180 32326535 - 32354456 32444844 - 32354350 32444761 - 1580863;6480464 11574164;12477932;14702039;14729963;15635413;17643375;18029348;19322201;19615732;20020773;20360068;20467438;21139048;21145461;21282530;21890473;21906983;22178446;22446626;22586326;22751105;22939629;23000965;23125841;23383273;23752268;24250222;24332808;24457600;24482476;24778252;24816145;25027693 51663 H0Y8W1;Q05D65;Q96KR1 ABBA01066741;ABBA01066742;AC008949;AF100742;AJ314790;AK025481;AK055938;AK123306;AK292214;AK295297;AK307808;AK309638;AL137258;AMYH02011126;BC017879;BC030540;BC038973;BC051893;BC062986;BC107417;BC137084;BC137085;CH471118;KF510263;KF510922;NM_016107;XM_006714477;XR_427659 AAD40385;AAH17879;AAH30540;AAH51893;AAH62986;AAI07418;AAI37085;AAI37086;BAB15147;BAF84903;BAG51594;BAG53886;BAG58279;CAB70659;CAC40818;EAX10789;EAX10790;EAX10791;NP_057191;Q96KR1;XP_006714540 Hs.435231 1650722;1687283;1735470;1739607;1760653;1787844;1788638;2163164;2177130 D5S1592E;D5S1926E;D5S2633;RH18147;RH81088;SHGC-132621;SHGC-144201;SHGC-36633;SHGC-52706 FLJ41312;SPG71;ZFR1;hZFR M-phase phosphoprotein homolog;OTTHUMP00000220926;zinc finger RNA-binding protein protein-coding ENSG00000056097 HGNC:17277 15730 615635 VALIDATED 6481388 ZFX-AS1 ZFX antisense RNA 1 X X 24164342 24167771 - 24146225 24149654 - 100873922 ABBA01072294;AC002404;AMYH02039044;HG512465;NR_046657 Hs.609207 RP1-290C9.2 APPROVED ncrna ENSG00000234230 HGNC:40617 PREDICTED 5490869 ZFY-AS1 ZFY antisense RNA 1 X Y 89024403 89060210 - 2834873 2870667 - 100506003 XR_109785 1647589;1677714;1684487;1685888;1686028;1730057;1797058;2163760 DYS251;G38352;RH38672;RH38678;RH76207;RH78934;SHGC-35340;ZFX_1122 ZFY-AS ZFYAS APPROVED ncrna HGNC:38798 1344344 ZFX zinc finger protein, X-linked This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010] X X X p21.3 28291063 28357675 + 24167047 24234372 + 24148934 24216255 + 1580863;6480464;8699517;8554872 11214319;12477932;14660691;15060604;15302935;16344560;18029348;2041734;2105457;21890473;22009483;22185393;22357206;22879936;22955854;2308929;23322077;23461064;23587796;23860324;23866268;24228108;24585547;24654937;2497060;2500252;2512506;9364438 7543 C9J682;C9JGU9;E9PEP7;P17010;Q59EB9;Q8WXB7 AB209892;ABBA01072294;ABBA01072295;ABBA01072296;ABBA01072297;ABBA01072298;ABBA01072299;ABBA01072300;ABBA01072301;AC002404;AF045781;AF454948;AF454949;AF454950;AF505615;AF505616;AF505617;AF505618;AF505619;AMYH02039044;AY012072;AY072770;BC030756;BC136308;BC136309;CH471074;DA848249;DA995443;KF459035;M30608;NG_021253;NM_001178084;NM_001178085;NM_001178086;NM_001178095;NM_003410;X59738;X59739;X59740;XM_005274591;XM_005274592;XM_005274594;XM_006724513;XM_006724514;XM_006724515 AAA61309;AAC03062;AAG38815;AAI36309;AAI36310;AAL51082;AAL51083;AAL51084;AAL67136;AAM33383;AAM33384;AAM33385;AAM33386;AAM33387;BAD93129;CAA42416;CAA42417;CAA42418;EAW99013;EAW99014;EAW99015;EAW99016;NP_001171555;NP_001171556;NP_001171557;NP_001171566;NP_003401;P17010;XP_005274648;XP_005274649;XP_005274651;XP_006724576;XP_006724577;XP_006724578 Hs.336681 1689919;1701906;1728911;1742951;1793602;1793636;1793638;1793640;1798322;2117062;2136584;2190475 DXS7788;Fabian_Werner_1;G10526;G42693;GDB:216882;PMC24149P10;PMC24149P7;PMC24149P8;PMC24149P9;RH98610;ZFX;ZFX_2118 ZNF926 OTTHUMP00000023078;OTTHUMP00000023079;OTTHUMP00000023080;X-linked zinc finger protein;zinc finger X-chromosomal protein APPROVED protein-coding ENSG00000005889 HGNC:12869 02445 314980 REVIEWED 1317194 ZFYVE1 zinc finger, FYVE domain containing 1 The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 14 14 14 q24.2 53499299 53557223 - 73436152 73493920 - 72969445 73027212 - 6480464;8554872 10997877;11024279;11256955;11739631;11804589;12477932;12508121;14702039;15489334;15498874;16344560;19389623;19898463;21832049;21900206;22178386 53349 G3V5N8;Q9HBF4 AB046809;ABBA01030773;ABBA01030774;ABBA01030775;ABBA01030776;ABBA01030777;AF251025;AF311602;AF318319;AI073571;AJ310569;AK027399;AK098542;AL442663;AMYH02029479;AMYH02029480;AMYH02029481;AW070816;BC014902;BC053520;BU740588;BX339655;CH471061;CK005173;DA324499;DB059103;EL734498;HY248287;NM_001281734;NM_001281735;NM_021260;NM_178441 AAG23748;AAH53520;AAK27339;AAL55826;BAB13415;BAB55085;CAC83950;EAW81084;EAW81085;NP_001268663;NP_001268664;NP_067083;NP_848535;Q9HBF4 Hs.335106 1645954;1651625;1659966;1668822;1684852;1685451;1728611;1740697;1776597;1778688;1846606;2112132;2112148;2112158;2112162;2128469;2144648;2155684;2186015 D14S1270;D14S1353;D14S1373;D14S1387;D14S1391;G35458;G35461;G35785;G35961;G38063;G38147;G38161;G38191;G38233;G38241;G38325;G63597;RH26227;RH64886 DFCP1;KIAA1589;PPP1R172;SR3;TAFF1;ZNFN2A1 OTTHUMP00000245915;OTTHUMP00000245916;OTTHUMP00000245917;OTTHUMP00000245918;OTTHUMP00000245919;double FYVE-containing protein 1;phosphoinositide-binding protein SR3;tandem FYVE fingers-1 protein;zinc finger FYVE domain-containing protein 1;zinc finger protein, subfamily 2A (FYVE domain containing), 1;zinc finger protein, subfamily 2A, member 1 APPROVED protein-coding ENSG00000165861 HGNC:13180 12017 605471 REVIEWED 1345411 ZFYVE19 zinc finger, FYVE domain containing 19 ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding; INVOLVED IN abscission; cytokinesis checkpoint; negative regulation of cytokinesis; ASSOCIATED WITH Melanoma (inferred); FOUND IN centrosome; cleavage furrow; midbody; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2-methylcholine 15 15 15 q15.1 17867170 17874666 + 41099274 41106767 + 40807076 40814569 + 1580863;6480464;8554872 12477932;12618766;14702039;15489334;16344560;17081983;17500595;22863883;22939629;23275563;24814515;24816145;8125298 84936 H3BN64;H3BP54;H3BRF9;H3BRM1;H3BS07;H3BSF5;H3BUW6;H3BVF5;Q96K21 AB209224;ABBA01038431;AC012476;AF445414;AK027746;AK122779;AK225553;AMYH02030255;BC015738;BC021092;BI860679;CH471125;DA611931;DA653225;DB012963;NM_001077268;NM_001258420;NM_001258421;NM_032850 AAH21092;AAO73862;BAB55338;BAD92461;BAG53724;EAW92447;EAW92448;EAW92449;EAW92450;EAW92451;EAW92452;EAW92453;EAW92454;EAW92455;NP_001070736;NP_001245349;NP_001245350;NP_116239;Q96K21 Hs.121676 2180332;5015619;5037552 D11S3114;D8S2279;WI-21808 ANCHR;FLJ14840 MLL partner containing FYVE domain;MPFYVE;abscission/NoCut checkpoint regulator;zinc finger FYVE domain-containing protein 19 protein-coding ENSG00000166140 HGNC:20758 15731 VALIDATED 1348980 ZFYVE16 zinc finger, FYVE domain containing 16 This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] 5 5 5 q14 75605155 75676813 + 79703386 79775498 + 80407570 80479869 + 1580863;6480464;6484113;6907045 11433298;11546807;12477932;14613930;14702039;15144186;15231748;15489334;15592455;15621726;16344560;16775010;17272273;17356069;17570516;18029348;18781797;19887107;21139048;21832049;21890473;21906983;21963094;21987572;22053931;22939629;23000965;24250222;24816145;8889548;9205841 9765 D6RC80;H0Y8R0;H0YAA4;H0YAB1;Q7Z3T8 AB002303;ABBA01062039;AC008771;AF434817;AK090896;AK127003;AL833087;AMYH02011664;AMYH02011665;AMYH02011666;AW952550;BC030808;BC032227;BX537424;BX649172;BX956000;CB854699;CH471084;CR933621;DA216169;DB208042;DR005686;KC877016;NM_001105251;NM_001284236;NM_001284237;NM_014733;XM_005248632;XM_005248634 AAH30808;AAL30772;BAA20764;BAG54419;CAD89968;CAD97666;CAI45932;EAW95850;EAW95851;NP_001098721;NP_001271165;NP_001271166;NP_055548;Q7Z3T8;XP_005248689;XP_005248691 Hs.482660;Hs.660410 1652831;1657883;1711256;2141503;2177288;5015961;5037552;5491810 D15S1477;D8S2279;RH70374;SHGC-84992;STS-R68242;WI-15051;WI-17790;ZFYVE16 DKFZp686E13162;KIAA0305;PPP1R69 ENDOFIN;OTTHUMP00000135318;OTTHUMP00000222226;OTTHUMP00000222227;endosome-associated FYVE domain protein;endosome-associated FYVE-domain protein;protein phosphatase 1, regulatory subunit 69;zinc finger FYVE domain-containing protein 16 APPROVED protein-coding ENSG00000039319 HGNC:20756 10319 608880 REVIEWED 1347591 ZFY zinc finger protein, Y-linked This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq, Jul 2008] X Y Y p11.3 88992656 89040090 + 2803112 2850547 + 2935071 2982506 + 1580863;6480464;8699517 10779541;11173854;11750730;12477932;12815422;15489334;1849423;1854720;20211142;2041734;21890473;22407129;2308929;24457600;2497060;2498838;2511751;3690661;7680890 7544 C9JQM1;P08048 ABBA01069763;ABBA01069764;ABBA01069765;ABBA01069766;ABBA01069767;ABBA01069768;ABBA01069769;ABBA01069770;ABBA01069771;ABBA01069772;AC006157;AF114156;AI469059;AI763177;AK301061;AK310553;AL137603;BC114526;BC114960;L10393;M30607;NG_008113;NM_001145275;NM_001145276;NM_003411;X15470;XM_005262570;XM_005262571;XM_006724873 AAA61310;AAA72344;AAD15612;AAF21973;AAI14527;AAI14961;BAG62669;CAA33498;NP_001138747;NP_001138748;NP_003402;P08048;XP_005262627;XP_005262628;XP_006724936 Hs.522845 1647589;1677714;1684487;1685888;1686028;1686929;1730057;1753061;1797058;2163760;5014051;5021672;5021872;5022917;5115820;5115822;5115824;5115826;5115828;5116540 D8S2278;DYS251;G38352;RH38667;RH38672;RH38678;RH76207;RH78934;SHGC-35340;SHGC-79636;ZFX_1122;ZFY-10;ZFY-4;ZFY-5;ZFY-6;ZFY-7;ZFY-8;ZFY-9;sY3047;sY3084 MGC138710;ZNF911 OTTHUMP00000034366;zinc finger Y-chromosomal protein APPROVED protein-coding ENSG00000067646 HGNC:12870 02466 490000 REVIEWED 1314398 ZFPM2 zinc finger protein, FOG family member 2 The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008] 8 8 8 q23 102518281 103003726 + 106330917 106816767 + 105318690 105804539 + 1580641;1580640;6480464;7240710;8554872;8699517 14517948;15705784 10329627;10438528;10801815;11297508;12477932;12606418;14985365;15220332;15489334;15643620;16103912;16713569;17309641;17568391;18067919;18252717;18658259;19723756;20005803;20379614;20705609;20807224;21525063;21658281;21757650;21919901;21947317;21988832;22139419;22558309;22570617;23029311;23453885;23870195;24057671;24179092;9927675 23414 E5RJX0;E7ET52;Q8WW38;Q9NPQ0 AB073894;ABBA01037659;ABBA01037660;ABBA01037661;ABBA01037662;ABBA01037663;ABBA01037664;ABBA01037665;ABBA01037666;ABBA01037667;ABBA01037668;ABBA01037669;ABBA01037670;ABBA01037671;ABBA01037672;ABBA01037673;ABBA01037674;ABBA01037675;ABBA01037676;ABBA01037677;AC018525;AC022721;AC041039;AC090802;AC103853;AF119334;AK296997;AK303058;AK316426;AL389974;AL389987;AL389988;AL389989;AMYH02018562;AMYH02018563;AMYH02018564;AMYH02018565;AMYH02018566;AMYH02018567;BC020928;BC109222;BC109223;CH471060;KF458822;NG_011723;NM_012082;XM_005250850 AAD49558;AAH20928;AAI09223;AAI09224;BAG59535;BAG64175;BAH14797;CAB97539;CAB97540;CAB97541;EAW91899;NP_036214;Q8WW38;XP_005250907 Hs.431009 1336225;1341139;1658397;1672363;1690192;1705682;1709214;1711940;1749151;1848199;2108653;2140725;2149408;2174279;2174910;2184788 A007K30;D8S1487;D8S1703;D8S1768;D8S1897;D8S2005;G49581;RH18423;RH48595;RH68588;RH79250;RH93255;SHGC-110826;SHGC-83420;SHGC-85791;ZFPM2_8010 DIH3;FOG-2;FOG2;MGC129663;MGC129664;ZC2HC11B;ZNF89B;hFOG-2 Friend of GATA2;OTTHUMP00000227730;friend of GATA 2;friend of GATA protein 2;transcription factor GATA4, modulator of;zinc finger protein 89B;zinc finger protein ZFPM2;zinc finger protein, multitype 2 2315771 GLUCO144_H APPROVED protein-coding ENSG00000169946 HGNC:16700 04737 187500;603693;610187 REVIEWED 1322277 ZFYVE21 zinc finger, FYVE domain containing 21 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cell junction (inferred); cytoplasmic vesicle (inferred); endosome (inferred); INTERACTS WITH 2-methylcholine; copper(2+) sulfate; menadione 14 14 14 q32.33 84236401 84254256 + 104182081 104200005 + 103715744 103733668 + 6480464;8554872 12477932;12524540;14702039;15489334;19773279;20439989;20601096;20890123;21139048;21768110;22939629;23382803;8889548 79038 G3V2M2;G3V5D6;Q9BQ24;R4GN42 ABBA01048412;AK001921;AK057816;AK226142;AK290519;AL049840;AMYH02029930;AY395756;BC001130;BC005999;BX248261;CA311020;CH471061;CX786145;NM_001198953;NM_024071 AAH01130;AAH05999;AAR14313;BAB71589;BAF83208;CAD62589;EAW81843;EAW81844;NP_001185882;NP_076976;Q9BQ24 Hs.592322 1671579;1671581;1688000;2124524;2126454;2161811;5015861;7185938 A001V41;D10S16;G19698;HSC0RB112;RH69614;RH78568;RH93079 MGC2550;ZF21 FYVE domain containing 21;OTTHUMP00000246660;OTTHUMP00000246661;zinc finger FYVE domain-containing protein 21 protein-coding ENSG00000100711 HGNC:20760 15733 613504 VALIDATED 1317236 ZFYVE26 zinc finger, FYVE domain containing 26 This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008] 14 14 14 q24.1 48272248 48342326 - 68213237 68283306 - 67728892 67816590 - 6480464;7240710;8554872;8699517 11342696;12477932;17661097;17897319;18332254;18394578;19805727;19917823;20208530;20301682;20379614;21455500;21545838;21906983;23825025;24030950;24366652;24529757;9205841 23503 G3V230;G3V2D8;Q68DK2;Q96H43 AB002319;AB425197;ABBA01023705;ABBA01023706;AK024743;AK304428;AK308233;AL049779;AL121595;AMYH02029404;AMYH02029405;BC008927;BC013909;BC033235;BC144594;BX537886;BX538025;BX648036;BX648683;CH471061;CR749276;CR749365;NG_011836;NM_015346;XM_006720093 AAH08927;AAH33235;AAI72413;BAA20779;BAG11658;BAG65255;CAD97882;CAD97971;CAH10379;CAH18131;CAH18218;EAW80952;EAW80953;EAW80954;EAW80955;EAW80956;NP_056161;Q68DK2;XP_006720156 Hs.98041 1338651;1663169;2108025;2110065;2118086;2156034;2159397;2182655;5126807 A008C26;D14S77;DNAJC9_8008;G35820;MARC_5453-5454:996690402:1;RH45584;RH70433;SHGC-58403;ZFYVE26_9355 DKFZp686F19106;DKFZp781H1112;FYVE-CENT;KIAA0321;SPG15 FYVE domain-containing centrosomal protein;OTTHUMP00000245710;OTTHUMP00000245713;spastizin;zinc finger FYVE domain-containing protein 26 APPROVED protein-coding ENSG00000072121 HGNC:20761 15734 270700;612012 REVIEWED 4144230 ZFYVE9P1 zinc finger, FYVE domain containing 9 pseudogene 1 X X X q26.3 137108659 137110382 + 136742678 136744401 + 137660519 137662242 + 100289259 ABBA01065849;AL591398;AMYH02040594;NG_022707 pseudo HGNC:33359 INFERRED 1320885 ZFYVE28 zinc finger, FYVE domain containing 28 ENCODES a protein that exhibits phosphatidylinositol-3-phosphate binding; INVOLVED IN negative regulation of epidermal growth factor receptor signaling pathway; negative regulation of epidermal growth factor-activated receptor activity; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytosol; early endosome membrane; INTERACTS WITH 5-aza-2'-deoxycytidine; benzo[a]pyrene 4 4 4 p16.3 2183673 2332010 - 2271324 2420370 - 2269597 2418674 - 1580863;6480464;8554872 10997877;12477932;18482256;19460345;20379614;21890473;21906983;21963094;21987572;22505724;23000965;23212062;24324551 57732 D6RID3;Q49AA1;Q9HCC9 AB046863;ABBA01029508;ABBA01029509;ABBA01029510;ABBA01029511;ABBA01029512;ABBA01029513;ABBA01029514;ABBA01029515;AK126692;AK293775;AK294710;AK294874;AK316484;AL158068;AL645924;AMYH02008604;AMYH02008605;AMYH02008606;AMYH02008607;BC032605;BC035793;BC041866;BC053664;BC137309;BC137310;BM128958;CH471131;NM_001172656;NM_001172657;NM_001172658;NM_001172659;NM_001172660;NM_020972;XM_006713900;XM_006713901;XM_006713902;XM_006713903;XM_006713904 AAH41866;AAH53664;AAI37310;AAI37311;BAB13469;BAG54362;BAH11593;BAH11855;BAH11908;BAH14855;EAW82528;EAW82529;NP_001166127;NP_001166128;NP_001166129;NP_001166130;NP_001166131;NP_066023;Q9HCC9;XP_006713963;XP_006713964;XP_006713965;XP_006713966;XP_006713967 Hs.292056 1651334;1729538;2119160;2131894;2172488;7184651;7184661;7184667;7184781 D4S1193;D4S43;D4S522;G34099;SHGC-31255 LST2;LYST2;MGC43699;MGC61592;hLst2 OTTHUMP00000217954;OTTHUMP00000217955;OTTHUMP00000217956;OTTHUMP00000217958;OTTHUMP00000217959;OTTHUMP00000217960;lateral signaling target protein 2 homolog;zinc finger FYVE domain-containing protein 28 protein-coding ENSG00000159733 HGNC:29334 11701 614176 VALIDATED 4888870 ZFYVE9P2 zinc finger, FYVE domain containing 9 pseudogene 2 2 2 2 17345219 17345831 + 17465552 17466164 + 17284285 17284897 + 100420972 ABBA01018510;AC068614;AMYH02003338;NG_023679 1690444 RH48831 pseudo HGNC:39046 INFERRED 1321999 ZFYVE9 zinc finger, FYVE domain containing 9 This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 1 1 1 p32.3 50895521 51099052 + 52607678 52812358 + 52142094 52346686 + 1580863;2298922;6480464;6484113;6907045;8554872 12809600 10615055;11094085;11100470;11877415;11918675;12154125;12432064;12477932;12554698;12809483;14759258;15231748;15231848;15356634;15489334;15613484;16775010;16916642;17356069;17693260;18511908;18729074;19620243;20515759;21200089;21266541;21878490;22321011;22819827;22942286;23222715;23687300;24377927;9582421;9865696 9372 O95405;Q59GI4 AB209125;ABBA01074775;ABBA01074776;ABBA01074777;ABBA01074778;AC105754;AF104304;AF130419;AF130420;AL139156;AL513218;AMYH02001011;AMYH02001012;AMYH02001013;AMYH02001014;AMYH02001015;AMYH02001016;AMYH02001017;AMYH02001018;BC032680;CH471059;DR005493;NM_004799;NM_007324 AAC99462;AAD31694;AAD31695;AAH32680;ABW03369;BAD92362;EAX06790;EAX06791;EAX06792;NP_004790;NP_015563;O95405 Hs.532345 1658416;1684475;1690444;1752027;1769283;2110067 D1S546;RH44636;RH48831;SHGC-105945;SHGC-74831;ZFYVE9_8927 NSP;PPP1R173;SARA MAD homolog interacting protein;MAD, mothers against decapentaplegic homolog interacting protein, receptor activation anchor;MADH-interacting protein;MADHIP;OTTHUMP00000009739;OTTHUMP00000009740;OTTHUMP00000009741;SMADIP;hSARA;mothers against decapentaplegic homolog interacting protein;mothers against decapentaplegic homolog-interacting protein;novel serine protease;receptor activation anchor;smad anchor for receptor activation;zinc finger FYVE domain-containing protein 9 APPROVED protein-coding ENSG00000157077 HGNC:6775 04782 603755 REVIEWED 732666 ZG16 zymogen granule protein 16 ENCODES a protein that exhibits carbohydrate binding (inferred); INVOLVED IN protein transport (inferred); FOUND IN extracellular matrix; Golgi lumen; INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; 1-naphthyl isothiocyanate (ortholog) 16 16 16 p11.2 73004439 73006715 - 29789561 29792969 + 29778240 29781648 + 6480464 10493829;11181995;12477932;15340161;15489334;16189514;16713569;17307141;21110947;21893569;7720729 653808 O60844 AB092813;ABBA01013118;AC002301;AC009133;AC243914;AK125559;AK312002;BC029149;BC150656;CH471238;CK904265;KF456182;NM_152338 AAC08708;AAH29149;AAI50657;ABM81721;ABM84876;BAC20361;BAG34940;BAG54214;EAW80011;NP_689551;O60844 Hs.632195 1778438 D17S2107 FLJ43571;FLJ92276;JCLN;JCLN1;MGC183567;MGC34820;ZG16A;hZG16 jacalin-like lectin domain containing;secretory lectin ZG16;zymogen granule membrane protein 16;zymogen granule protein 16 homolog APPROVED protein-coding HGNC:30961 VALIDATED 1352080 ZFYVE27 zinc finger, FYVE domain containing 27 This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010] 10 10 10 q24.2 93234147 93257930 + 99496878 99520664 + 97737121 97760907 + 737633;6480464;7240710;8554872;8699517 12477932 14702039;15164054;15489334;16385451;16712791;16826525;17082457;18606302;19289470;20301682;21832049;21976701;22573551;23969831;24250222 118813 B7Z6J9;Q5T4F4;X6RII9 ABBA01021790;AK057481;AK074876;AK097945;AK296295;AK296588;AK299735;AK300438;AL358938;AL561314;AL834235;AMYH02023612;BC030621;BF063694;BF508037;BI758753;BM544601;BU838354;BX647836;CB150532;CH471066;DC302372;NG_017075;NM_001002261;NM_001002262;NM_001174119;NM_001174120;NM_001174121;NM_001174122;NM_144588;XM_005269502;XM_005269503;XM_005269504;XM_005269505;XM_005269506;XM_005269508;XM_005269509;XM_005269510;XM_005269511 AAH30621;BAB71506;BAC05200;BAC11260;BAH12306;BAH12390;BAH13112;BAH13285;CAD38913;EAW49895;EAW49896;EAW49897;EAW49898;EAW49899;EAW49900;EAW49901;EAW49902;NP_001002261;NP_001002262;NP_001167590;NP_001167591;NP_001167592;NP_001167593;NP_653189;Q5T4F4;XP_005269559;XP_005269560;XP_005269561;XP_005269562;XP_005269563;XP_005269565;XP_005269566;XP_005269567;XP_005269568 Hs.744075 1703592;2164380;5022651 D11S2921;SHGC-64748;STS-N20191 RP11-459F3.2;SPG33 OTTHUMP00000020228;OTTHUMP00000020230;OTTHUMP00000020231;protrudin;zinc finger FYVE domain-containing protein 27 APPROVED protein-coding ENSG00000155256 HGNC:26559 15735 610243;610244 REVIEWED 1605005 ZG16B zymogen granule protein 16B ENCODES a protein that exhibits carbohydrate binding (inferred); INVOLVED IN retina homeostasis; ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; extracellular vesicular exosome; INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; aflatoxin B1; benzo[a]pyrene 16 16 16 p13.3 3080104 3082216 + 2880173 2882285 + 2830172 2832284 + 6480464;8554872 11076863;11678034;12477932;12975309;15489334;15489336;16341674;16381901;16502470;16713569;16954406;19056867;19302292;19615732;19784070;20802527;20858015;21110947;21139048;21196815;21464589;22640743;22907431;23677445;24550385 124220 G8H6I3;I3L1H9;I3L3X0;Q96DA0 ABBA01026714;AC005361;AK311810;AMYH02031274;AY359021;BC009722;BF446936;BM786200;BQ924772;CH471112;EF067313;JN411265;NM_145252 AAH09722;AAQ89380;ABM92915;AET71202;BAG34753;CAL37793;CAL38744;EAW85462;NP_660295;Q96DA0 Hs.105887 EECP;HRPE773;JCLN2;PAUF;PRO1567 OTTHUMP00000159184;endocrine and exocrine protein;jacalin-like lectin domain containing 2;pancreatic adenocarcinoma upregulated factor;zymogen granule protein 16 homolog B APPROVED protein-coding ENSG00000162078 HGNC:30456 14024 VALIDATED 1313404 ZFYVE20 zinc finger, FYVE domain containing 20 ENCODES a protein that exhibits metal ion binding (inferred); Rab GTPase binding (inferred); INVOLVED IN blood coagulation (inferred); protein transport (inferred); PARTICIPATES IN endocytosis pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular membrane-bounded organelle; INTERACTS WITH 3-methylcholanthrene; cobalt dichloride; cyclosporin A 3 3 3 p25.1 15049847 15078926 - 15111580 15140662 - 15070073 15099155 - 1580863;6480464;6907045;8554872 11062261;11788822;12477932;12493736;14702039;15020713;15328530;15489334;16034420;16138080;16964243;17043677;18029348;19931244;20329706;22308388;22488850 64145 C9JZZ1;D6RD50;F8WE50;H7C204;Q9H1K0 AB209673;ABBA01025146;AC090954;AK054598;AK092312;AK291288;AK301735;AL833545;AMYH02006327;AMYH02006328;AMYH02006329;AY009133;BC032628;BC106940;BF513881;BX640925;CH471055;NM_022340;XM_005265383;XM_005265384;XM_005265385;XM_005265386;XM_005265387;XR_427283 AAG33246;AAI06941;BAC03860;BAD92910;BAF83977;BAG63200;CAE45963;EAW64220;EAW64221;NP_071735;Q9H1K0;XP_005265440;XP_005265441;XP_005265442;XP_005265443;XP_005265444 Hs.475565;Hs.706478 1710348;1769208;2119850;2143236;2157124;2218666;5014051;5016478;5017170;5022200;5022651;5037552 D11S2921;D3S4025;D3S4113;D8S2278;D8S2279;GDB:434012;L18426;L29953;SGC34220;SHGC-82427;STS-N59228;ZFYVE20__4951 FLJ34993;MGC126210 110 kDa protein;FYVE finger-containing Rab5 effector protein rabenosyn-5;FYVE-finger-containing Rab5 effector protein rabenosyn-5;OTTHUMP00000160299;OTTHUMP00000208274;OTTHUMP00000222250;rabenosyn-5;zinc finger FYVE domain-containing protein 20 protein-coding ENSG00000131381 HGNC:20759 15732 609511 VALIDATED 1606771 ZGPAT zinc finger, CCCH-type with G patch domain ENCODES a protein that exhibits sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; INVOLVED IN negative regulation of epidermal growth factor-activated receptor activity; negative regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 2-methylcholine; copper(2+) sulfate; diazinon 20 20 20 q13.3 59023048 59051759 + 62338727 62367494 + 63707442 63736142 + 6480464;8554872 11347906;11780052;12477932;14702039;15231747;15489334;15489335;16344560;16952911;17081983;17207965;18758464;18854154;19623168;19644445;20233718;20549515;20811636;20936779;21102463;21297633;23128233;23535732;24116224;24816145 84619 Q8N5A5;X6RGY1 AB058750;ABBA01021416;ABBA01021417;ABBA01021418;AK027878;AK074961;AK314726;AL121845;AMYH02037468;BC019338;BC032612;CH471077;CV027894;DA055150;DA252406;DA848516;DB025637;NM_001083113;NM_001195653;NM_001195654;NM_032527;NM_181485 AAH19338;AAH32612;ADQ32718;BAB47476;BAB55426;BAC11317;EAW75220;EAW75221;EAW75222;EAW75223;EAW75224;EAW75225;EAW75226;EAW75227;EAW75228;EAW75229;NP_001076582;NP_001182582;NP_001182583;NP_115916;NP_852150;Q8N5A5 Hs.590868 1675744;1697038 RH101996;RH75350 GPATC6;GPATCH6;KIAA1847;MGC44880;RP4-583P15.3;ZC3H9;ZC3HDC9;ZIP OTTHUMP00000031593;OTTHUMP00000031594;OTTHUMP00000031595;OTTHUMP00000031596;g patch domain-containing protein 6;zinc finger CCCH domain-containing protein 9;zinc finger CCCH-type with G patch domain-containing protein;zinc finger and G patch domain-containing protein protein-coding ENSG00000197114 HGNC:15948 15736 VALIDATED 5507878 ZHX1-C8orf76 ZHX1-C8orf76 readthrough This locus represents naturally occurring read-through transcription between the neighboring zinc fingers and homeoboxes 1 (ZHX1) and chromosome 8 open reading frame 76 (C8orf76) genes. The read-through transcript encodes a protein that shares sequence identity with the downstream gene, but it has a distinct N-terminus encoded by exon structure from the upstream gene. [provided by RefSeq, Feb 2011] 8 8 q 124238429 124286727 - 123226189 123274487 - 6480464 12477932;15342556;20967262;21906983 100533106 Q96EF9 ABBA01037869;ABBA01037870;ABBA01037871;ABBA01037872;AC018992;AC068228;AMYH02018703;BC012379;BP340117;CA424676;NM_001204180 AAH12379;NP_001191109;Q96EF9 Hs.707401 1679143 RH93745 MGC9784 OTTHUMP00000228385;ZHX1-C8orf76 readthrough transcript protein;zinc fingers and homeoboxes protein 1, isoform 2 APPROVED protein-coding ENSG00000259305 HGNC:42975 VALIDATED 1346071 ZHX1 zinc fingers and homeoboxes 1 The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene. [provided by RefSeq, Feb 2011] 8 8 8 q24.13 120449735 120475585 - 124260690 124287781 - 123248450 123275541 - 6480464 10441475;10571058;12062805;12237128;12477932;12586822;12659632;12741956;14667819;14702039;15146197;15302935;15383276;15489334;16169070;16344560;16524884;16713569;17056598;17127430;17303076;19322201;19348505;19471022;20509910;20936779;21252943;21693764;21900206;21988832;22939629;23314748;23686912 11244 Q9UKY1;U3KPX4 ABBA01037871;ABBA01037872;AC018992;AC068228;AF106862;AF195766;AK025236;AK094451;AK289532;AMYH02018703;BC040481;BQ008088;CA776642;CH471060;CN352595;DA238313;NM_001017926;NM_007222;NR_037873;NR_037874 AAD50624;AAF35183;AAH40481;BAF82221;EAW92027;EAW92028;EAW92029;NP_001017926;NP_009153;Q9UKY1 Hs.521800 1656761;1672240;1681626;1709954;1739245;2127208;2155648;2172057;2185275;7185581 D8S1558;G30158;RH78355;RH98926;SHGC-53839;SHGC-82245;STS-D60292;STS-T66784;WI-11363 OTTHUMP00000228386;OTTHUMP00000228389;zinc finger and homeodomain protein 1;zinc fingers and homeobox 1;zinc fingers and homeoboxes protein 1;zinc-fingers and homeoboxes 1 APPROVED protein-coding ENSG00000165156 HGNC:12871 10379 604764 REVIEWED 1342946 ZHX2 zinc fingers and homeoboxes 2 The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008] 8 8 8 q24.13 119982978 120175825 + 123792510 123986755 + 122780656 122974515 + 1299601;1580863;6480464;8554872 12741956 10048485;11205744;12477932;14659886;15489334;15824104;16713569;16952470;16968750;17056598;17447851;17533377;18029348;18194454;19240061;19805522;20080650;20379614;21443521;21832049;21909108;21987443;21988832;22078940;22542470;22661463;22984075;23942779;24583282;8051160;9092538 22882 H0YKA3;Q9Y6X8 AB020661;AB083653;ABBA01037860;ABBA01037861;ABBA01037862;AC016405;AC104316;AF075099;AI334237;AMYH02018700;BC042145;BM148156;CH471060;HG501627;KF458839;KF510296;NM_014943;XM_005250836;XM_005250837 AAH42145;ABZ92223;BAA74877;BAC76615;EAW92012;NP_055758;Q9Y6X8;XP_005250893;XP_005250894 Hs.377090;Hs.658443 1338505;1648216;1714231;1721715;1748589;1749611;1750045;1764091;1766171;1851609;2134163;2134296;2136322;2151469;2154001;2163024;2186659;2187182 D8S1826;G59722;RH119894;RH16365;RH41900;RH47173;SGC34057;SGC35165;SHGC-110247;SHGC-111296;SHGC-111728;SHGC-147748;SHGC-149547;STS-AA010366;WI-12680;WI-14759;WI-16838;WI-17139 AFR1;KIAA0854;RAF;RP11-44N11.3 AFP regulator 1;OTTHUMP00000228361;alpha-fetoprotein regulator 1;regulator of AFP;transcription factor ZHX2;zinc finger and homeodomain protein 2;zinc fingers and homeoboxes protein 2;zinc-fingers and homeoboxes 2 APPROVED protein-coding ENSG00000178764 HGNC:18513 16458 609185 REVIEWED 1602323 ZGRF1 zinc finger, GRF-type containing 1 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH calcitriol; ethyl methanesulfonate; methyl methanesulfonate 4 4 4 q25 110754552 110852228 - 113460489 113558151 - 112539333 112636995 - 6480464 11181995;12477932;14702039;15146197;16344560;17081983;17974005;20332099;21832049;21906983;24250222;8889548 55345 D6RB47;D6REN9;D6REQ7;G3XAL8;I3L0G6;Q86YA3 ABBA01063816;AC023886;AC106864;AK002193;AK090556;AK126054;AK299831;AK302613;AL137700;AL708767;AMYH02009936;AMYH02009937;BC028584;BC044799;BF056790;BM721145;BX647594;CH471057;CN297341;DA199760;DB219969;NM_018392;XM_005263115 AAH44799;BAA92130;BAC86416;BAG52184;BAG61698;BAG63860;CAB70881;EAX06279;EAX06280;EAX06281;NP_060862;Q86YA3;XP_005263172 Hs.380346;Hs.713663 1750007;1785180;2173151 D4S1143;SHGC-111707;SHGC-70129 C4orf21;DKFZp313L226;DKFZp434C0927;FLJ11331;FLJ33237;FLJ44066 GRF-type zinc finger domain-containing protein 1;OTTHUMP00000163825;OTTHUMP00000218236;OTTHUMP00000219764;prematurely terminated mRNA decay factor-like;uncharacterized protein C4orf21 APPROVED protein-coding ENSG00000138658 HGNC:25654 08562 VALIDATED 3418338 ZGLP1 zinc finger, GATA-like protein 1 ENCODES a protein that exhibits sequence-specific DNA binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); zinc ion binding (inferred); INVOLVED IN multicellular organismal development (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); oocyte development (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred) 19 19 19 p13.2 10310872 10315626 - 10415479 10420233 - 10304803 10309557 - 8554872 12477932;14702039;15057824;15489334;16982049 100125288 B5MCP8;P0C6A0 ABBA01029937;AC011511;AK096830;AMYH02035489;BC029904;BC044225;CK826281;NM_001103167 NP_001096637;P0C6A0 Hs.709296 1778718;5024640 RH48407;RH93808 FLJ39511;FLJ39703;GATAD3;GLP-1;GLP1 GATA like protein 1;GATA like protein-1;GATA zinc finger domain containing 3;GATA-like protein 1;GATA-type zinc finger protein 1;OTTHUMP00000201202;OTTHUMP00000201203 protein-coding ENSG00000220201 HGNC:37245 611639 VALIDATED 1342474 ZHX3 zinc fingers and homeoboxes 3 This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008] 20 20 20 q12 36517656 36639406 - 39807089 39928766 - 41178449 41300123 - 1580863;6480464;8554872 11780052;11827452;12168954;12477932;12659632;14659886;14702039;15302935;16713569;16751776;17056598;18029348;19505873;20686565;21174497;8889548;9455477 23051 F6UBH9;F6UQN6;F6XGA7;H0Y6F5;H0YLR4;H0YMK8;H0YNY7;Q9H4I2 AB007855;AB081948;ABBA01052574;ABBA01052575;ABBA01052576;AI754653;AK090560;AK097523;AK122905;AK292415;AL022394;AL031257;AMYH02037083;AMYH02037084;AMYH02037085;AW502552;BC020258;BC047070;BC068569;BI458686;BM905948;BM980061;CH471077;DQ583641;DQ586571;DQ599687;NM_015035;XM_005260341;XM_005260343;XM_006723747;XM_006723748;XM_006723749 AAH68569;BAA23691;BAC65211;BAF85104;EAW75987;EAW75988;NP_055850;Q9H4I2;XP_005260398;XP_005260400;XP_006723810;XP_006723811;XP_006723812 Hs.380133 1650252;1668394;1668396;1751675;1798324;1849286;2128929;2146275;2155906;2164271;2168911;5014023;5015861;5017827;7185435;7185938 A002B15;D10S16;D13S1553;D20S526E;D20S571E;G19883;RH12290;RH12301;SHGC-105623;STS-N25688;WI-20100;Z94398;ZHX3;ZHX3_2146 KIAA0395;TIX1 OTTHUMP00000031006;triple homeobox 1;triple homeobox protein 1;zinc finger and homeodomain protein 3;zinc fingers and homeoboxes protein 3 APPROVED protein-coding ENSG00000174306 HGNC:15935 10320 609598 REVIEWED 735694 ZIC1 Zic family member 1 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008] 3 3 3 q24 145539633 145546958 + 147127181 147134506 + 147409394 147416719 + 1599905;1580863;6480464 15338008 10737800;11015565;11038359;11238441;12477932;12783990;14679585;14981711;15733262;17936758;18029348;18515550;19010793;19135984;20199689;20713527;20944657;21204220;21347233;21671493;22799764;23774800;23937294;24457242;24684457;8542595;8619474;9110174 7545 H7C5D8;Q15915 ABBA01058969;ABBA01058970;AC092959;AMYH02007864;AMYH02007865;BC104848;BC104850;BF920299;CH471052;NG_015886;NM_003412;U79264 AAI04849;AAI04851;EAW78915;EAW78916;NP_003403;Q15915 Hs.598590;Hs.647962 1739911;2169150 D3S3310;D3S3492 ZIC;ZNF201 OTTHUMP00000215402;Zic family member 1 (odd-paired homolog, Drosophila);Zinc finger protein of the cerebellum 1;zic protein member 1;zinc finger protein 201;zinc finger protein ZIC 1 APPROVED protein-coding ENSG00000152977 HGNC:12872 02718 600470 REVIEWED 1322491 ZIC2 Zic family member 2 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2008] 13 13 13 q32 81478855 81483555 + 100634026 100639019 + 99981772 99986765 + 1358247;1331525;1580863;6480464;6907045;7240710;8554872;8699517 15118671;15261827 10984499;11038359;11238441;11285244;11479728;11857562;11910512;11991713;12522805;12666207;13678579;14679585;15057823;15221788;15576338;15590697;17251188;18363970;18417618;19022413;19177455;19322201;19784848;19955556;20199689;20301702;20531442;20683983;21638761;21661123;21908606;21940735;22310223;22733541;22847929;22859937;22863734;23396134;24150758;8557628;9771712 7546 O95409 ABBA01027104;ABBA01027105;AF104902;AF188733;AF193855;AF339806;AL355338;AMYH02028601;AMYH02028602;CH471085;NG_007085;NM_007129 AAC96325;AAG28409;AAG38995;AAI72274;EAX09030;EAX09031;NP_009060;O95409 Hs.653700 1645105;1675509;1729111;1738401 D13S1086E;RH44495;RH80620;UniSTS:144841 HPE5 OTTHUMP00000018633;Zic family member 2 (odd-paired Drosophila homolog);Zic family member 2 (odd-paired homolog, Drosophila);Zinc finger protein of the cerebellum 2;zinc finger protein ZIC 2 APPROVED protein-coding ENSG00000043355 HGNC:12873 04353 603073;609637 REVIEWED 6481419 ZIC4-AS1 ZIC4 antisense RNA 1 100873950 AC092959 APPROVED ncrna HGNC:40920 1347201 ZIC3 Zic family member 3 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008] X X X q26.2 137014356 137020269 + 136648346 136654259 + 137566187 137572100 + 1599909;1580863;6480464;7240710;8554872;8699517 9354794 10861288;11076863;11238441;12477932;12522805;12963115;14679585;14681828;14985256;15470371;15489334;15772651;17185387;17295247;17468179;17764085;18716025;21069353;21465648;21858219;21864452;22171628;23427188;23872418;24123890;7747776;8298651;8889548 7547 O60481 ABBA01065838;AF028706;AL035443;AMYH02040592;BC113393;BC113395;BM667189;CH471150;EU532020;NG_008115;NM_003413 AAC05594;AAI11855;AAI13394;AAI13396;ACB30403;ADR83201;EAW88447;NP_003404;O60481 Hs.111227 1781204;1798326;5017911 ZIC3;ZIC3_2181;stSG20553 HTX;HTX1;ZNF203 OTTHUMP00000024142;VACTERLX;Zic family member 3 (odd-paired homolog, Drosophila);heterotaxy 1;zinc finger protein 203;zinc finger protein ZIC 3;zinc finger protein of the cerebellum 3 APPROVED protein-coding ENSG00000156925 HGNC:12874 02225 300265;306955;314390 REVIEWED 1316409 ZIC4 Zic family member 4 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009] 3 3 3 q24 145516286 145536859 - 147103835 147124596 - 147386048 147406809 - 1580863;6480464 11329013;12477932;12499499;14702039;15007130;15177559;15338008;15477575;15489334;15733262;16344560;19425501;21204220;22284968 84107 C9J6T3;C9JD04;C9JZU7;Q8N9L1 ABBA01058970;ABBA01058971;AC092959;AF332509;AK056262;AK056394;AK094286;AK124600;AK126595;AK127733;AK293981;AK294831;AMYH02007864;BC029507;BC126267;BC136339;BG208324;CH471052;DA066220;DA102161;DA106797;DA121447;DA218617;DA314072;DA411998;DA416382;DA759114;NG_009242;NM_001168378;NM_001168379;NM_001243256;NM_032153;NR_033118;NR_033119;NR_040762 AAH29507;AAI26268;AAI36340;AAK06845;ADR82934;BAC04322;BAC86605;BAG51660;BAG51696;BAG57350;BAH11898;EAW78917;EAW78918;EAW78919;NP_001161850;NP_001161851;NP_001230185;NP_115529;Q8N9L1 Hs.415766;Hs.739084 1645724;1675577;1798328;2150020;2156738;2166759;2177459;5093938;5109621 A009Z14;D3S2841E;D3S3991;G33011;RH91704;SGC30596;SHGC-31137;SHGC-77439;ZIC4_2201 FLJ42609;FLJ45833 OTTHUMP00000215404;OTTHUMP00000215406;OTTHUMP00000215407;OTTHUMP00000215408;zinc family member 4 protein HZIC4;zinc finger protein ZIC 4;zinc finger protein of the cerebellum 4 APPROVED protein-coding ENSG00000174963 HGNC:20393 12340 608948 REVIEWED 1604492 ZIK1 zinc finger protein interacting with K protein 1 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsenite(3-); atrazine; methyl methanesulfonate 19 19 19 q13.43 55139206 55147336 + 58095508 58105256 + 57584145 57593888 + 6480464;8554872 12477932;14702039;8910362 284307 F5H435;M0QYP0;M0QYQ8;M0R1S7;Q3SY52;X6R413 ABBA01020805;ABBA01020806;AC003682;AK092538;AK128340;AMYH02036518;BC047299;BC103957;BC103958;BC103959;CH471135;NM_001010879;XM_005258769 AAC24608;AAI03958;AAI03959;AAI03960;BAG52570;BAG54663;EAW72516;NP_001010879;Q3SY52;XP_005258826 Hs.454830 1682936;2119565;2184515 RH91313;SHGC-37565;STS-N64074 MGC119699;MGC119700;MGC119701;ZNF762 zinc finger protein 762;zinc finger protein interacting with K protein 1 homolog;zinc finger protein interacting with ribonucleoprotein K APPROVED protein-coding HGNC:33104 18321 PROVISIONAL 9586533 ZIM2-AS1 ZIM2 antisense RNA 1 ASSOCIATED WITH Lung Neoplasms (inferred) 19 q13.43 57183715 57311014 + 8554872 12477932;19539734 101929059 AC006115;BC036412;FJ997633;HG511085;NR_110744;XR_244018;XR_244019;XR_248596;XR_253915;XR_253916 Hs.607132 ZIM2as ncrna HGNC:51304 VALIDATED 1349311 ZIM2 zinc finger, imprinted 2 In human, ZIM2 and PEG3 (GeneID:5178) are two distinct genes that share a set of 5' exons and have a common promoter, and both genes are paternally expressed. Alternative splicing events connect the shared exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. This is in contrast to mouse and cow, where ZIM2 and PEG3 genes do not share exons in common, and the imprinting status of ZIM2 is also not conserved amongst mammals. Additional 5' alternatively spliced transcripts encoding the same protein have been found for the human ZIM2 gene. [provided by RefSeq, Oct 2010] 19 19 19 q13.4 54328020 54394184 - 57285915 57352097 - 56774547 56840729 - 1580863;6480464;8554872 10708526;12477932;15203203;15489334;24250222 23619 M0QXH8;M0QXI3;M0R155;Q9NZV7 ABBA01020829;AF166122;AI418432;AMYH02036501;BC104876;BC104878;BC143663;BC143664;CH471135;DC400394;NG_012989;NM_001146326;NM_001146327;NM_015363 AAF61478;AAI04877;AAI04879;EAW72475;EAW72479;NP_001139798;NP_001139799;NP_056178;Q9NZV7 Hs.731875 1667068;1669049;1734708;1788650;1852057;2106933;2170721;5094920;5122503 6115ef;D19S699E;PEG3;RH17474;RH18153;SGC34114;SHGC-32171;STS-W93046;WI-22317 ZNF656 zinc finger imprinted 2;zinc finger protein 656 APPROVED protein-coding ENSG00000269699 HGNC:12875 10321 REVIEWED 1320899 ZIC5 Zic family member 5 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 2, a related family member on chromosome 13. [provided by RefSeq, Jul 2008] 13 13 13 q32.3 81459810 81468714 - 100615275 100624178 - 99963021 99971924 - 1580863;6480464 11044622;15146197;15465018;20199689;20467438;20683983 85416 Q96T25 ABBA01027107;ABBA01027108;ABBA01027109;AF378304;AI699626;AL355338;AMYH02028599;CH471085;CN304220;CS501444;JA065351;JA080695;JA177774;JA177956;JA408529;NM_033132 AAK55418;CAM83951;CCA61732;CCA63952;CCA64136;CCA64137;CCD32691;EAX09029;NP_149123;Q96T25 Hs.508570 1798330;2124406 RH11313;ZIC5_2281 OTTHUMP00000018634;Zic family member 5 (odd-paired homolog, Drosophila);zinc family member 5 protein;zinc finger protein ZIC 5;zinc finger protein of the cerebellum 5 APPROVED protein-coding ENSG00000139800 HGNC:20322 15737 VALIDATED 1352082 ZIM3 zinc finger, imprinted 3 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cadmium atom 19 19 19 54689155 54700260 - 57645464 57656570 - 57134096 57145202 - 1580863;6480464;8554872 11543637;12477932;15489334;22505724 114026 Q6NTE1;Q96PE6 ABBA01020818;AC025588;AF365931;AMYH02036506;BC069071;BC114446;BC114503;CH471135;NM_052882 AAH69071;AAI14447;AAI14504;AAL11635;EAW72481;NP_443114;Q96PE6 Hs.348622 1765005;5015961 D15S1477;SHGC-148556 MGC138876;MGC138877;ZNF657 zinc finger imprinted 3;zinc finger protein 657 protein-coding ENSG00000141946 HGNC:16366 15738 PROVISIONAL 2801999 ZIK1P1 zinc finger protein interacting with K protein 1 pseudogene 1 X X X q25 123691576 123693142 - 123306782 123308348 - 124172932 124174498 - 100131493 ABBA01036439;AL391241;AMYH02040422;NG_023003;NG_033796 APPROVED pseudo HGNC:38031 INFERRED 1347183 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 The ZKSCAN1 gene encodes a transcriptional regulator of the KRAB (Kruppel-associated box) subfamily of zinc finger proteins, which contain repeated Cys2-His2 (C2H2) zinc finger domains that are connected by conserved sequences, called H/C links (summarized by Tommerup and Vissing, 1995 [PubMed 7557990]). Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. See ZNF91 (MIM 603971) for general information on zinc finger proteins.[supplied by OMIM, Jul 2010] 7 7 7 q22 94347766 94369948 + 99613204 99642803 + 100015572 100045178 + 6480464 12477932;12690205;12693554;14702039;15489334;17081983;18029348;19471022;2014798;21693764;21832049;21906983;21963094;22505724;22797925;2288909;23443559;24816145;24824930;7486829;7557990 7586 B3KNP9;B3KRF7;C9JRM9;E9PC66;P17029;Q96FA2 AA873735;ABBA01013241;ABBA01013242;AC004522;AC093619;AF454940;AK054676;AK056630;AK074116;AK090495;AK091471;AK123012;AL833578;AMYH02016370;AY260738;BC011421;BC022378;BC112224;BC113697;BX640646;CH236956;CH471091;HY140376;NM_001287054;NM_001287055;NM_003439;U09848;X52349;XM_005250565;XM_006716112 AAC50264;AAH11421;AAH22378;AAI12225;AAI13698;AAP83961;AAP97699;ABZ92438;ADR83332;BAB84942;BAG51411;BAG52369;BAG53848;CAA36575;CAE45792;EAL23861;EAW76612;EAW76613;NP_001273983;NP_001273984;NP_003430;P17029;XP_005250622;XP_006716175 Hs.615360;Hs.633338;Hs.743424 1698694;2132352;2144059;2185355;5015619;5015861;5015961;5016478;5021872;5022578;5022588;5022651;5037552;5091763;5108775;7185938 D10S16;D11S2921;D11S3114;D15S1477;D1S1423;D3S1674;D5S1597E;D7S1619;D8S2279;GDB:434012;RH102907;RH17988;SHGC-31477;ZNF139;sY3084 9130423L19Rik;KOX18;MGC138429;PHZ-37;ZNF139;ZNF36;ZSCAN33 OTTHUMP00000210079;OTTHUMP00000210080;zinc finger protein 139;zinc finger protein 36 (KOX 18);zinc finger protein KOX18;zinc finger protein with KRAB and SCAN domains 1 APPROVED protein-coding ENSG00000106261 HGNC:13101 03161 601260 VALIDATED 8549295 ZKSCAN7P1 zinc finger with KRAB and SCAN domains 7 pseudogene 1 12 12 12 23791514 23792224 + 18646009 18646719 + 18493075 18493785 + 100419827 ABBA01067922;AC087236;AMYH02026124;NG_024067 pseudo HGNC:49867 INFERRED 1319105 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; benzo[a]pyrene 6 6 6 p21 29818944 29826449 - 28212404 28227030 - 28244626 28259252 - 737633;1580863;6480464 12477932 14574404;14702039;15489334;17910948;19008334;20811636;22037552 387032 B7Z7H3;Q969J2 ABBA01038015;AK056698;AK302017;AK315783;AL022393;AL390721;AMYH02013393;AY781778;BC014031;CH471081;NM_019110;XM_005249095;XM_005249097;XM_005249098;XM_005249099;XM_005249100;XM_005249101;XM_006715095 AAH14031;AAV41023;ABM86659;ABW03500;BAB71258;BAG38129;BAH13609;EAX03142;EAX03143;EAX03144;NP_061983;Q969J2;XP_005249152;XP_005249154;XP_005249155;XP_005249156;XP_005249157;XP_005249158;XP_006715158 Hs.44720 1699378;1767773;2150625;5015961 D15S1477;D6S2281;RH103276;STS-N35344 FLJ32136;P1P373C6;ZNF307;ZNF427;ZSCAN36;p373c6.1 OTTHUMP00000016199;p373c6.1 (novel C2H2 type zinc finger protein);zinc finger protein 307;zinc finger protein 427;zinc finger protein with KRAB and SCAN domains 4 protein-coding ENSG00000187626 HGNC:13854 15768 611643 PROVISIONAL 1313974 ZKSCAN3 zinc finger with KRAB and SCAN domains 3 ENCODES a protein that exhibits chromatin binding; DNA binding; sequence-specific DNA binding; INVOLVED IN lysosome organization; negative regulation of autophagy; negative regulation of cellular senescence; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 5-fluorouracil; copper(2+) sulfate; trichostatin A 6 6 6 p22.1 29924132 29940962 + 28317691 28336954 + 28349913 28369177 + 1580863;6480464;8554872 10520746;12477932;14574404;14702039;15031282;15489334;16341674;16344560;17474147;18519692;18940803;21057542;21946350;22531714;23434374 80317 Q9BRR0 ABBA01038017;ABBA01038018;AK091225;AK122790;AK313532;AL021997;AL358785;AMYH02013394;BC006118;BM762243;BT007427;CH471081;DA440043;DB214839;DN831452;NM_001242894;NM_001242895;NM_024493;U71601;XM_005249423;XM_005249424;XM_006715215;XM_006715216;XM_006715217;XM_006715218;XM_006715219 AAB16813;AAH06118;AAP36095;BAG36309;BAG52311;BAG53732;EAX03157;EAX03158;NP_001229823;NP_001229824;NP_077819;Q9BRR0;XP_005249480;XP_005249481;XP_006715278;XP_006715279;XP_006715280;XP_006715281;XP_006715282 Hs.380930;Hs.485004 1688843;1697590;2150893;2169439;2189651;5022200;5022588;5022651;5024413 D11S2921;D5S1597E;D6S2226;L17877;L18426;RH102305;RH63707;RH66545;RH98837 FLJ33906;KIAA0426;ZF47;ZFP306;ZNF306;ZNF309;ZSCAN13;ZSCAN35;Zfp47;dJ874C20.1;dJ874C20.1.;zfp-47 OTTHUMP00000016204;zinc finger and SCAN domain-containing protein 13;zinc finger protein 306;zinc finger protein 309;zinc finger protein 47 homolog;zinc finger protein with KRAB and SCAN domains 3;zinc finger protein zfp47 protein-coding ENSG00000189298 HGNC:13853 11705 612791 VALIDATED 1313155 ZKSCAN7 zinc finger with KRAB and SCAN domains 7 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH calcitriol; copper(2+) sulfate; formaldehyde 3 3 3 p21.32 44534728 44562986 + 44596667 44624975 + 44555175 44583464 + 6480464;8554872 12477932;14702039;1505991;15489334;16189514;16344560;1946370;20211142;21282530;21890473;22505724;23000965;7814019 55888 A7MAY2;C9J6L6;E7EMM9;H7BZE7;Q0VAP0;Q9P0L1 ABBA01024739;ABBA01024740;AC099669;AF075093;AF154846;AK022800;AK291285;AMYH02006647;AMYH02006648;AY280798;BC010555;BC063020;BC120982;BC120983;BC127639;BC127640;BC148260;CH471055;DA787920;L32164;M88372;M88373;NM_001288590;NM_001288591;NM_001288592;NM_018651;NM_025169;XM_005265323 AAA36818;AAA61330;AAA61331;AAF72104;AAH10555;AAH63020;AAI20983;AAI20984;AAI27640;AAI27641;AAI48261;AAI66704;AAQ16302;BAB14250;BAF83974;EAW64711;NP_001275519;NP_001275520;NP_001275521;NP_061121;NP_079445;Q9P0L1;XP_005265380 Hs.529512;Hs.696570 1341257;1696890;1743101;1776904;1848368;2139692;2167598 D3S3350;D3S3624;G16017;GDB:252104;SHGC-76888;STS-L32164;d01504sbk FLJ12738;ZFP;ZNF167;ZNF448;ZNF64;ZSCAN39 OTTHUMP00000164124;OTTHUMP00000164125;OTTHUMP00000209704;OTTHUMP00000209705;OTTHUMP00000209707;zinc finger protein 167;zinc finger protein 448;zinc finger protein 64;zinc finger protein with KRAB and SCAN domains 7 APPROVED protein-coding ENSG00000196345 HGNC:12955 15744 VALIDATED 1605808 ZKSCAN2 zinc finger with KRAB and SCAN domains 2 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH bisphenol A; genistein; methyl methanesulfonate 16 16 16 p12.1 24027233 24048765 - 25247322 25269210 - 25236001 25257534 - 6480464;8554872 12477932;14702039;16344560 342357 B4E0P9;H3BQ35;Q63HK3 ABBA01017123;AC008741;AK026852;AK131342;AK302399;AK303472;AMYH02031742;BC130007;BC151139;BX648785;CH471145;DB120548;NM_001012981 AAI30008;AAI51140;BAD18498;BAG63712;BAG64511;CAH56131;EAW55768;NP_001012999;Q63HK3 Hs.513451 2122778;2220258 AB052171;SHGC-60667 FLJ23199;ZNF694;ZSCAN31;ZSCAN34 zinc finger and SCAN domain containing 31;zinc finger protein 694;zinc finger protein with KRAB and SCAN domains 2 protein-coding ENSG00000155592 HGNC:25677 11268 VALIDATED 1345896 ZMAT1 zinc finger, matrin-type 1 This gene encodes a protein containing Cys2-His2 (C2H2)-type zinc fingers, which are similar to those found in the nuclear matrix protein matrin 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] X X X q21 101657865 101707597 - 101137260 101187108 - 101882288 101932135 - 6480464 11347906;11361095;12477932;14702039;15718139;16344560;18029348;18253864;7531280;8889549 84460 A7MD47;Q5H9K5 AA101301;AA459272;AB058692;ABBA01045033;ABBA01045034;ABBA01045035;ABBA01045036;ABBA01045037;ABBA01045038;AK094141;AK296520;AL831883;AMYH02040070;BC028029;BC045706;BC140920;BC152470;CH471115;DA415774;DA824319;KF459260;KF510142;NG_016330;NM_001011657;NM_001282400;NM_001282401;XM_005262212;XM_005262213;XM_005262214;XM_005262216;XM_006724710;XM_006724711;XM_006724712;Z68326;Z68868;Z69304 AAI40921;AAI52471;BAB47418;BAG59151;CAD38564;EAX02897;NP_001011657;NP_001269329;NP_001269330;Q5H9K5;XP_005262269;XP_005262270;XP_005262271;XP_005262273;XP_006724773;XP_006724774;XP_006724775 Hs.496512 1685259;2122838;2159466;2175389 AF020182;RH39178;RH48787;SGC30659 KIAA1789;MGC176597;MGC176728 OTTHUMP00000023703;zinc finger matrin-type protein 1;zinc finger, matrin type 1 APPROVED protein-coding ENSG00000166432 HGNC:29377 10029 REVIEWED 1353598 ZMAT2 zinc finger, matrin-type 2 ENCODES a protein that exhibits DNA binding (inferred); nucleic acid binding (inferred); zinc ion binding (inferred); PARTICIPATES IN spliceosome pathway; FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); paracetamol (ortholog); pentachlorophenol (ortholog) 5 5 5 q31.3 136156780 136162987 + 140078265 140086248 + 140700447 140706654 + 737633;1580863;6480464;6907045 12477932 14702039;15489334;15635413;17207965;21139048;21145461;21988832;22379092;23275563;24250222;24816145 153527 Q96NC0;R4GMX9;R4GNG8 ABBA01026422;AC116353;AK055683;AMYH02012340;BC056668;CH471062;NM_144723;X97303 AAH56668;ADQ32190;BAB70983;EAW62016;EAW62017;EAW62018;NP_653324;Q96NC0 Hs.350194 1858092;2119616;2140398;2140400;2175631 A005U15;D5S2381;D5S2600;G20504;RH12406 FLJ31121;Ptg-12;Snu23;hSNU23 OTTHUMP00000159885;OTTHUMP00000223673;zinc finger matrin-type protein 2;zinc finger, matrin type 2 APPROVED protein-coding ENSG00000146007 HGNC:26433 08094 PROVISIONAL 1607019 ZMAT5 zinc finger, matrin-type 5 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN mRNA processing (inferred); RNA splicing (inferred); FOUND IN nucleus; U12-type spliceosomal complex; INTERACTS WITH atrazine; propiconazole (ortholog); toluene (ortholog) 22 22 22 cen-q12.3 13926672 13962699 - 30126945 30163000 - 29730956 29767011 - 6480464 12477932;15146077;15461802;15489334;18029348;24250222;24550385;7566098;9847074 55954 Q9UDW3 AA312132;ABBA01055277;AC004882;AK292671;AL160311;AMYH02038207;AMYH02038208;BC009717;BG285784;BK005198;BU598307;CH471095;CR456353;CR457393;NM_001003692;NM_019103;XM_005261683 AAH09717;ACE86640;ACE87322;BAF85360;CAB77284;CAG30239;CAG33674;CAK54494;CAK54793;DAA05496;EAW59837;EAW59838;NP_001003692;NP_061976;Q9UDW3;XP_005261740 Hs.713647 1682846 RH45735 SNRNP20 OTTHUMP00000199701;U11/U12 small nuclear ribonucleoprotein 20 kDa protein;U11/U12 snRNP 20 kDa protein;U11/U12 snRNP 20K;U11/U12-20K;zinc finger matrin-type protein 5;zinc finger, matrin type 5 APPROVED protein-coding ENSG00000100319 HGNC:28046 14247 VALIDATED 1602466 ZMAT3 zinc finger, matrin-type 3 This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq, Jul 2008] 3 3 3 q26.32 177164280 177219033 - 178735011 178790067 - 179017223 179072279 - 6480464;6907045;8554872 11571644;11689294;12196512;12477932;12840015;14702039;16344560;16844115;17207965;17609381;18519039;19127773;19322201;19394292;19805223;20460684;20962082;21050045;21559779;21832049;22513872;23085987;23158102;23726511;24250222;9400996 64393 C9J8H5;Q9HA38 ABBA01058546;ABBA01058547;AC117456;AF355465;AK022358;AK056245;AK122768;AMYH02008216;AMYH02008217;AMYH02008218;AMYH02008219;AX882084;AY037945;BC002896;BC036485;CH471052;DA001239;NM_022470;NM_152240;XM_005247706;XM_006713725;XM_006713726 AAH02896;AAK71491;AAK83287;ADQ31910;BAB14020;BAG53718;CAE91449;EAW78424;EAW78425;EAW78426;NP_071915;NP_689426;Q9HA38;XP_005247763;XP_006713788;XP_006713789 Hs.371609 1648811;1676546;1773312;1775454;2132257;2185335;5014051;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;L18426;RH11538;RH12069;RH46457;SHGC-77566;SHGC-77580;STS-D20222 FLJ12296;FLJ31683;MGC10613;PAG608;WIG-1;WIG1 OTTHUMP00000211906;OTTHUMP00000211907;WIG-1/PAG608 protein;p53 target zinc finger protein;p53-activated gene 608 protein;zinc finger matrin-type protein 3;zinc finger protein WIG-1;zinc finger protein WIG1;zinc finger, matrin type 3 APPROVED protein-coding ENSG00000172667 HGNC:29983 07343 606452 REVIEWED 1606216 ZMAT4 zinc finger, matrin-type 4 ENCODES a protein that exhibits DNA binding (inferred); nucleic acid binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; atrazine; dioxygen 8 8 8 p11.21 39339870 39709569 - 40388109 40755345 - 40530590 40897824 - 6480464;8554872 12477932;14702039;17903298;21269563;21832049;23396134;23602568;24163370 79698 E5RFW2;E5RGZ7;E5RIF5;Q9H898 ABBA01015900;ABBA01015901;AC018796;AC048387;AC104864;AK023904;AMYH02017857;AMYH02017858;AMYH02017859;AMYH02017860;AMYH02017861;AMYH02017862;AMYH02017863;AMYH02017864;BC019598;CH471080;NM_001135731;NM_024645;XM_005273644;XM_006716399;XM_006716400;XM_006716401 AAH19598;BAB14719;EAW63263;EAW63264;EAW63265;NP_001129203;NP_078921;Q9H898;XP_005273701;XP_006716462;XP_006716463;XP_006716464 Hs.591850 1335532;1339924;1657193;1662150;1665325;1686386;1707016;1732613;1733994;1754875 D8S1023;D8S1104;D8S1183;D8S1817;RH18476;RH44466;SHGC-141804;SHGC-32047;SHGC-5765;SHGC-81012 FLJ13842 OTTHUMP00000225690;OTTHUMP00000225691;OTTHUMP00000225692;zinc finger matrin-type protein 4;zinc finger, matrin type 4 APPROVED protein-coding ENSG00000165061 HGNC:25844 07837 VALIDATED 7240886 ZMIZ1-AS1 ZMIZ1 antisense RNA 1 10 10 10 q22.3 73989752 74113876 - 80703083 80827205 - 78943326 79067448 - 12477932;14702039;8889548 283050 ABBA01020214;ABBA01020215;ABBA01020216;AK097923;AK098249;AK126302;AL356753;AL450398;AMYH02023394;BC102000;BC102001;BC105703;BX116874;CB306489;HG503057;HG503058;NR_015429;NR_024429;NR_024431 Hs.309176 1298280;1677538;1680583 D10S2327;RH80583;RH99322 RP11-202P11.1 ncrna ENSG00000224596 HGNC:27433 VALIDATED 1322493 ZKSCAN5 zinc finger with KRAB and SCAN domains 5 This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain. A similar protein in mouse is differentially expressed in spermatogenesis. Two alternatively spliced transcript variants differing only in the 5' UTR have been described. Additional variants have been found, but their full-length sequences have not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q22 93836480 93865674 + 99102273 99131445 + 99504628 99533822 + 1580863;6480464 10231032;10585779;12477932;12690205;12853948;14702039;16314882;16344560;20211142;21533175;21900206;22939629;23455924;8889548 23660 B3KNK8;F8WBD4;Q9Y2L8 AB023232;AB742315;AB742316;AB742317;AB742318;ABBA01013256;ABBA01013257;ABBA01013258;AC005020;AC073063;AF170025;AK027714;AK096552;AMYH02016362;BC030790;BX648490;CA311067;CH236956;CH471091;DA044307;DA580238;DA773579;NM_014569;NM_145102;XM_005250242;XM_005250243;XM_006715912;XM_006715913;XM_006715914;XM_006715915 AAF24219;AAH30790;AAS02018;ABZ92473;BAA76859;BAG51370;BAG53320;BAM36945;BAM36946;BAM36947;EAL23873;EAW76654;EAW76655;EAW76656;EAW76657;EAW76658;NP_055384;NP_659570;Q9Y2L8;XP_005250299;XP_005250300;XP_006715975;XP_006715976;XP_006715977;XP_006715978 Hs.110839 1667251;1682309;2110063;2125001;5016781 D7S2923;RH94011;SHGC-67307;WI-20768;ZFP95__4948 FLJ39233;KIAA1015;MGC33710;ZFP95;ZNF914;ZSCAN37;zfp-95 OTTHUMP00000210524;OTTHUMP00000210525;OTTHUMP00000210526;OTTHUMP00000210527;zinc finger protein 95 homolog;zinc finger protein 95 homolog (mouse);zinc finger protein homologous to Zfp95 in mouse;zinc finger protein with KRAB and SCAN domains 5 APPROVED protein-coding ENSG00000196652 HGNC:12867 10318 611272 REVIEWED 1323172 ZMIZ1 zinc finger, MIZ-type containing 1 This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010] 10 10 10 q22.3 74115464 74363006 + 80828751 81076285 + 79068994 79316528 + 6480464;8554872 10574462;10737800;12421765;12477932;14609956;14702039;15626329;16385451;16777850;17512505;17584785;17967885;18007576;18711365;19525953;19795399;19879194;19915574;19929986;20159969;20190752;20379614;20453838;20467438;20473688;20526339;20881960;21102463;21833088;21890473;22190364;22482804;23128233;23161489;23426136;23453885;23468962;23535729;23563607;8619474;8889548;9110174 57178 A0JLS3;B4DSG4;Q9ULJ6 AB033050;ABBA01020212;ABBA01020213;ABBA01020214;AF070622;AF357909;AK023603;AK024490;AK025812;AK299728;AL049432;AL356753;AL358782;AL391665;AL539520;AMYH02023395;AMYH02023396;AMYH02023397;AMYH02023398;AY235683;BC007288;BC025342;BC035890;BC049845;BC068072;BC117687;BE082814;BX644960;CD657106;CF137779;CF264960;CH471083;NG_028289;NM_020338;XM_005269987;XM_005269988;XM_006717923;XM_006717924;XM_006717925 AAH07288;AAH25342;AAI17688;AAI72361;AAP13542;AAQ15173;BAA86538;BAB15780;BAG61626;EAW54639;EAW54640;EAW54641;EAW54642;EAW54643;EAW54644;NP_065071;Q9ULJ6;XP_005270044;XP_005270045;XP_006717986;XP_006717987;XP_006717988 Hs.193118 1337840;1338095;1338976;1657000;1716123;1730978;1730994;1736102;1739991;1754355;1755035;1758843;1759025;1766791;1767315;1777474;1846678;2137359;5014051;5015619;5015621;5021872;5022651;5037552;7186256 D10S1317E;D10S1379E;D10S1625;D10S1667;D10S201;D10S219;D10S267;D10S333;D11S2921;D11S3114;D11S3732;D8S2278;D8S2279;G28392;RH121026;RH47546;RH68569;RH70293;SHGC-132377;SHGC-141981;SHGC-151018;SHGC-151109;SHGC-152112;sY3084 FLJ13541;KIAA1224;MIZ;RAI17;TRAFIP10;Zimp10;hZIMP10 FLJ00092 protein;OTTHUMP00000019922;RP11-519K18.1;retinoic acid induced 17;zinc finger MIZ domain-containing protein 1;zinc finger-containing, Miz1, PIAS-like protein on chromosome 10 APPROVED protein-coding ENSG00000108175 HGNC:16493 12115 607159 REVIEWED 1319074 ZKSCAN8 zinc finger with KRAB and SCAN domains 8 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene; cisplatin; kojic acid 6 6 6 p21.3 29715776 29731298 + 28109688 28127250 + 28141910 28159472 + 1580863;6480464 10567577;10737800;12477932;14574404;15489334;18029348;18482256;8673473;8889548;9244436 7745 Q15776;Q59HG5 AA453245;AB208793;ABBA01038015;AK302402;AL358933;AMYH02013391;BC096282;BC096283;BC096284;BC113961;BC130032;BC152378;BM664529;BQ327604;CH471081;NM_001278119;NM_001278121;NM_001278122;NM_006298;U57796;U88078;U88079;U88080;XM_005249382;XM_005249383 AAB02260;AAC51656;AAH96282;AAH96283;AAH96284;AAI13962;AAI30033;AAI52379;BAD92030;BAG63713;EAX03135;EAX03136;NP_001265048;NP_001265050;NP_001265051;NP_006289;Q15776;XP_005249439;XP_005249440 Hs.57679;Hs.633128 1647066;1675417;1678713;1730505;1791742;2220036;7184806 D3S587;D6S2282;PMC123025P1;RH75895;RH93794;ZNF192__4975 LD5-1;ZNF192;ZSCAN40 OTTHUMP00000016198;zinc finger protein 192;zinc finger protein with KRAB and SCAN domains 8 APPROVED protein-coding ENSG00000198315 HGNC:12983 03760 602240 VALIDATED 1315977 ZMYM1 zinc finger, MYM-type 1 ENCODES a protein that exhibits nucleic acid binding (inferred); protein dimerization activity (inferred); zinc ion binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; ethyl methanesulfonate 1 1 1 p34.3 33818420 33854843 + 35525387 35581460 + 35059786 35115859 + 737633;6480464 12477932 14702039;16710414;19471022;20360068;21139048;21693764;21906983;21963094;24250222 79830 B3KWS9;B4DSJ9;Q5SVZ6;Q5SVZ7;Q5SW02;Q9H5R2 ABBA01023354;ABBA01023355;ABBA01023356;AK026804;AK096206;AK125741;AK299779;AK308655;AL607089;AMYH02000752;AMYH02000753;AMYH02000754;BC037313;BX537537;BX648307;CD683862;CH471059;CR936813;NM_001289088;NM_001289089;NM_001289090;NM_001289091;NM_024772;XM_005271216;XM_005271218;XM_005271219;XM_005271220;XM_005271222;XM_006710904;XR_426627 BAB15558;BAG54241;BAG61661;CAD97777;EAX07427;EAX07428;EAX07429;EAX07430;EAX07431;NP_001276017;NP_001276018;NP_001276019;NP_001276020;NP_079048;Q5SVZ6;XP_005271273;XP_005271275;XP_005271276;XP_005271277;XP_005271279;XP_006710967 Hs.471243 1693144;1772973;2174002;5037552 AL034299;D8S2279;SHGC-54630;SHGC-74582 FLJ23151;FLJ43753;MYM;RP11-181E22.4 OTTHUMP00000004598;OTTHUMP00000004599;OTTHUMP00000004600;OTTHUMP00000004601;zinc finger MYM-type protein 1;zinc finger, MYM domain containing 1 protein-coding ENSG00000197056 HGNC:26253 15739 VALIDATED 6481034 ZMYM2-IT1 ZMYM2 intronic transcript 1 (non-protein coding) 100874320 AL138688 miscrna HGNC:39936 1350026 ZMYM3 zinc finger, MYM-type 3 This gene is located on the X chromosome and is subject to X inactivation. It is highly conserved in vertebrates and most abundantly expressed in the brain. The encoded protein is a component of histone deacetylase-containing multiprotein complexes that function through modifying chromatin structure to keep genes silent. A chromosomal translocation (X;13) involving this gene is associated with X-linked mental retardation. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2010] X X X q13.1 70813352 70828925 - 70459474 70475047 - 71239624 71255197 - 1580863;6480464;8554872 10486218;10662551;12477932;12493763;12838571;15302935;15489334;15790807;16079794;16344560;17081983;18029348;20360068;20467438;20562864;21139048;21252943;21258344;21832049;21890473;21906983;21963094;21987572;22094256;22505724;22586326;22939629;23000965;23752268;24457600;24722188;24816145;25027693;8817323;8889548;9205841 9203 A6NC58;A6NHB5;A6NHN7;A6NL54;A8K3Z7;Q14202 AB002383;ABBA01067689;ABBA01067690;ABBA01067691;ABBA01067692;ABBA01067693;ABBA01067694;ABBA01067695;ABBA01067696;ABBA01067697;ABBA01067698;AK290762;AL590762;AMYH02039672;AY927528;BC013009;BC069057;BT007095;CB305871;CH471132;DA331402;DA539831;NG_016407;NM_001171162;NM_001171163;NM_005096;NM_201599;X95808;XM_005262309;XM_005262310;XM_006724715 AAH13009;AAH69057;AAP35759;BAA20839;BAF83451;CAA65075;EAX05301;EAX05302;EAX05303;NP_001164633;NP_001164634;NP_005087;NP_963893;Q14202;XP_005262366;XP_005262367;XP_006724778 Hs.522684 1675802;1681088;1767353;1770309;1793436;1793438;2118815;2135378;2191285 DXS7119;MARC_17083-17084:1023819377:2;PMC22091P4;PMC22091P5;RH1704;RH79687;RH98882;STS-X95808;WI-20232 DXS6673E;KIAA0385;MYM;XFIM;ZNF198L2;ZNF261 OTTHUMP00000023514;OTTHUMP00000023515;OTTHUMP00000023516;OTTHUMP00000023517;OTTHUMP00000023518;OTTHUMP00000023519;OTTHUMP00000023520;zinc finger MYM-type protein 3;zinc finger protein 261 APPROVED protein-coding ENSG00000147130 HGNC:13054 02088 300061 REVIEWED 5686925 ZMYM4-AS1 ZMYM4 antisense RNA 1 p34.3 11329013 100861513 AL356362;BG187713;BG208679 Hs.585397 APPROVED ncrna HGNC:40624 1605930 ZMIZ2 zinc finger, MIZ-type containing 2 ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 2010] 7 7 7 p13 44887383 44908331 + 44788168 44809480 + 44748569 44769881 + 6480464 11230166;11572484;12477932;12690205;12853948;14702039;15489334;16051670;16189514;17584785;18029348;19471022;20159969;21988832;23277564;24722188;9847074;9853615 83637 C9JDA5;E7EWM3;F8WC48;Q8NF64 AB015330;AB067473;ABBA01058232;ABBA01058233;AC004859;AC013436;AF357908;AI494261;AK057115;AK057378;AK090415;AK090841;AK097263;AK128359;AK301932;AL136572;AL831933;AMYH02015628;AY426594;BC008049;BC016968;BC021924;BC110435;BC131780;BI115680;CD367243;CH236960;CH471128;HY060154;NM_001300959;NM_031449;NM_174929;XM_005249866;XM_005249867;XM_005249868;XM_005249869;XM_005249870;XM_005249871;XM_005249872;XM_005249873;XM_005249874;XM_005249875;XM_006715787 AAH21924;AAI10436;AAI31781;AAP22367;AAP22368;AAQ15172;AAR85526;BAA34789;BAB67779;BAC03396;BAG52237;BAG63352;CAB66507;CAH56269;EAL23750;EAW61083;EAW61084;EAW61085;NP_001287888;NP_113637;NP_777589;Q8NF64;XP_005249923;XP_005249924;XP_005249925;XP_005249926;XP_005249927;XP_005249928;XP_005249929;XP_005249930;XP_005249931;XP_005249932;XP_006715850 Hs.600681;Hs.77978 1335470;2118391;2126921;2153047;7187916 D7S1488;RH70053;RH70368;RH78363 DKFZp761I2123;KIAA1886;NET27;TRAFIP20;ZIMP7;hZIMP7 OTTHUMP00000208713;OTTHUMP00000208714;OTTHUMP00000208715;OTTHUMP00000208716;PIAS-like protein Zimp7;zinc finger MIZ domain-containing protein 2 APPROVED protein-coding ENSG00000122515 HGNC:22229 13225 611196 VALIDATED 1343268 ZMYM5 zinc finger, MYM-type 5 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; atrazine; cobalt dichloride 13 13 13 q12 1459413 1499564 - 20397621 20437776 - 19823481 19863636 - 1580863;6480464 10894931;11042152;12477932;15057823;15231748;15489334;16524884;17126306;20036849;21832049;23455924;24250222 9205 H0YH25;Q9UJ78 ABBA01068566;ABBA01068567;ABBA01068568;AF161535;AJ133352;AJ133353;AJ133354;AJ133355;AK312724;AL354808;AL355001;AMYH02027622;AMYH02027623;AMYH02027624;AMYH02027625;AMYH02027626;BC007048;BI561630;BT006687;BU853478;BX647750;CH471075;NM_001039649;NM_001039650;NM_001142684;XM_005266593;XM_005266594;XM_005266595;XM_006719894 AAF29022;AAH07048;AAP35333;BAG35598;CAB57262;CAB57263;CAB57264;CAB57265;EAX08235;EAX08236;EAX08237;EAX08238;EAX08239;EAX08240;EAX08241;NP_001034738;NP_001034739;NP_001136156;Q9UJ78;XP_005266650;XP_005266651;XP_005266652;XP_006719957 Hs.530988 1701604;2171388;5022578;5022651 D11S2921;D1S1423;RH104440;SHGC-33087 HSPC050;MYM;ZNF198L1;ZNF237 OTTHUMP00000018080;OTTHUMP00000018081;OTTHUMP00000018082;OTTHUMP00000240349;zinc finger MYM-type protein 5;zinc finger protein 198-like 1;zinc finger protein 237 protein-coding ENSG00000132950 HGNC:13029 VALIDATED 1345857 ZMYM6 zinc finger, MYM-type 6 ENCODES a protein that exhibits DNA binding (inferred); zinc ion binding (inferred); INVOLVED IN cytoskeleton organization; regulation of cell morphogenesis; FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 1 1 1 p34.2 33725368 33771050 - 35451766 35497569 - 34986165 35031968 - 1580863;6480464 10486218;10718198;11282025;11884399;12477932;14702039;15489334;18029348;19471022;19615732;23533661;24250222 9204 O95789;Q7L9K1;X6RCN5 AB037774;ABBA01023356;ABBA01023357;ABBA01023358;ABBA01023359;AC114490;AK000927;AK092067;AK299293;AK301461;AK310703;AK310938;AL389985;AL607089;AL705390;AL832911;AL833263;AMYH02000751;AMYH02000752;AV734109;BC007070;BC017791;BC033903;BC043174;BC068534;BC107880;BC117463;BT007117;CH471059;NM_007167 AAH17791;AAH33903;AAH68534;AAI07881;AAI17464;AAP35781;BAA91430;BAA92591;BAG61308;BAG62982;CAH10638;EAX07433;NP_009098;O95789 Hs.533986;Hs.623978;Hs.729053 1682790;5016478;5037552;5109281 D1S1425;D8S2279;GDB:434012;RH98570 Buster2;MYM;ZBED7;ZNF198L4;ZNF258 OTTHUMP00000004335;OTTHUMP00000219405;transposon-derived Buster2 transposase-like protein;zinc finger MYM-type protein 6;zinc finger protein 258;zinc finger, BED-type containing 7;zinc finger, MYM-type containing 6 protein-coding ENSG00000163867 HGNC:13050 10325;17494 613567 VALIDATED 1313677 ZMPSTE24 zinc metallopeptidase STE24 This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008] 1 1 1 p34 39006122 39042251 + 40723722 40759856 + 40258050 40294184 + 1599910;1580863;6480464;7240710;8554872;8699517 12913070 10076063;10373325;12477932;14702039;15317753;15489334;15671064;15843403;16297189;16303743;16344560;16671095;16710414;17152860;17342744;17352743;17652517;17709742;18029348;18230615;18435794;18639527;18976975;19056867;19322201;19351612;19383993;19453269;19645629;19680556;19841875;19913121;19946888;20101687;20550970;20628086;20635340;20814950;21108632;21139048;21724554;21890473;21906983;21963094;22053931;22718200;22936788;22939629;23000965;23539603;23824909;24101728;24816145;9700155 10269 O75844 AA436253;AB016068;ABBA01023179;ABBA01023180;AF064867;AI003768;AK027874;AK074784;AK075007;AL050341;AMYH02000848;AMYH02000849;AMYH02000850;BC037283;CH471059;CQ782720;CQ782995;DA398037;DB096663;DB285015;NG_008695;NM_005857;Y13834 AAC68866;AAH37283;ABW03365;ABW03708;BAA33727;BAG51388;BAG52049;CAB46277;CAF85955;CAF86212;EAX07233;EAX07234;NP_005848;O75844 Hs.132642;Hs.721062 1666009;1673279;1679217;1788788;2114388;2136023;2154056;2176689 A002U36;AL009542;D1S1868E;RH135308;RH93804;SHGC-34567;SHGC-74699;SHGC-74731 FACE-1;FACE1;FLJ14968;HGPS;PRO1;STE24;Ste24p CAAX prenyl protease 1 homolog;Hutchinson-Gilford progeria syndrome;OTTHUMP00000006394;farnesylated proteins-converting enzyme 1;farnesylated-proteins converting enzyme 1;prenyl protein-specific endoprotease 1;zinc metallopeptidase STE24 homolog;zinc metalloproteinase Ste24 homolog APPROVED protein-coding ENSG00000084073 HGNC:12877 07349 275210;606480;608612 REVIEWED 5132761 ZMYM6NB ZMYM6 neighbor ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; zinc atom 1 1 1 p34.3 33720736 33724550 - 35447127 35450948 - 34981526 34985347 - 6480464;8554872 11181995;12477932;21103663 100506144 Q8NCS4 AA846430;ABBA01023359;AC114490;AK129824;AMYH02000751;BC029439;BU076143;CH471059;CS488910;DB447268;NM_001195156 AAH29439;CAM55984;EAX07432;NP_001182085;Q8NCS4 Hs.533986 1682790 RH98570 FLJ26314 OTTHUMP00000004330;ZMYM6 neighbor protein;hypothetical protein LOC100506144;uncharacterized protein ZMYM6NB protein-coding ENSG00000243749 HGNC:40021 VALIDATED 6481161 ZMYND10-AS1 ZMYND10 antisense RNA 1 100874210 AC002481 APPROVED ncrna HGNC:40890 1317868 ZMYM2 zinc finger, MYM-type 2 The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010] 13 13 13 q11-q12 1594586 1727769 + 20531708 20665968 + 19957568 20091829 + 1580863;6480464 10480903;10643154;11076863;11230166;11256614;12477932;12493763;12594223;12776193;14651998;14660670;15057823;15231748;15302935;15489334;15489336;15588942;15975576;16079794;16140033;16381901;16524884;16964243;17027752;17389761;17471537;18391013;18806873;19322201;19394292;19506298;19658100;20211142;20360068;20379614;20936779;21139048;21252943;21258344;21480320;22505724;22939629;23594707;23667531;23752268;24457600;25027693;8889548;9425908;9499416;9576949;9694738;9716603;9889006 7750 A8K126;B4DZH0;Q9UBW7 ABBA01068573;ABBA01068574;AF012126;AF035374;AF060181;AJ007676;AJ224901;AK226118;AK289741;AK302917;AK310505;AL136621;AL137119;AL138688;AMYH02027627;AMYH02027628;AMYH02027629;AMYH02027630;BC036372;BI460760;BM724534;BX643074;BX647944;BX648905;CH471075;KF511196;NG_023348;NM_001190964;NM_001190965;NM_003453;NM_197968;XM_005266517;XM_005266518;XM_005266519;XM_005266520;XM_005266521;XM_006719864;Y13472 AAB88464;AAC01561;AAC23591;AAH36372;ACE86558;ACE87240;BAF82430;BAG64082;CAA07604;CAA12204;CAA73875;CAB66556;CAH56193;CAL38411;CAL38487;EAX08243;EAX08244;EAX08245;EAX08246;EAX08247;EAX08248;NP_001177893;NP_001177894;NP_003444;NP_932072;Q9UBW7;XP_005266574;XP_005266575;XP_005266576;XP_005266577;XP_005266578;XP_006719927 Hs.507433 1648232;1651114;1670573;1681215;1688532;1698520;1700208;1739247;1748427;1856356;1858374;2117819;2137049;2157118;2160832;2171609;2176303 D13S1114;D13S177E;D5S1767;G23181;G64215;RH102811;RH103720;RH44888;RH45633;RH46119;RH47132;RH47151;RH71416;RH80418;RH98442;SHGC-64024;STS-H72847 FIM;MYM;RAMP;SCLL;ZNF198 OTTHUMP00000018086;OTTHUMP00000018088;fused in myeloproliferative disorder;fused in myeloproliferative disorders protein;rearranged in an atypical myeloproliferative disorder;rearranged in atypical myeloproliferative disorder protein;zinc finger MYM-type protein 2;zinc finger protein 198 APPROVED protein-coding ENSG00000121741 HGNC:12989 03745 602221 REVIEWED 1319940 ZMYM4 zinc finger, MYM-type 4 ENCODES a protein that exhibits DNA binding (inferred); zinc ion binding (inferred); INVOLVED IN cytoskeleton organization; regulation of cell morphogenesis; FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; benzo[a]pyrene diol epoxide I 1 1 1 p32-p34 34008550 34161857 + 35734444 35887545 + 35268850 35421944 + 1580863;6480464 10449923;10486218;12356764;12477932;15302935;18806873;19394292;19471022;19615732;20360068;21139048;21145461;21282530;21693764;21890473;21906983;21963094;24250222;24654937;25027693;8889548;9455477 9202 H7C1I7;Q5VZL5 AB007885;ABBA01023341;ABBA01023342;ABBA01023343;ABBA01023344;ABBA01023345;ABBA01023346;AK308320;AK309705;AL160000;AL356362;AL590434;AMYH02000761;AMYH02000762;AMYH02000763;AMYH02000764;AMYH02000765;AMYH02000766;BC012093;BC127113;BC127114;BG499626;BU683493;BX647376;BX648067;CD653525;CH471059;CR936741;NM_005095;XM_005271328;XM_005271330;XM_005271331;XM_006711034;XM_006711035;XR_246305 AAH12093;AAI27114;AAI27115;BAA24855;EAX07417;EAX07418;EAX07419;NP_005086;Q5VZL5;XP_005271385;XP_005271387;XP_005271388;XP_006711097;XP_006711098 Hs.269211 1659407;1660183;1665963;1696742;2135678;2175120 1570;AL010039;SHGC-74567;SHGC-74568;SHGC-74595;SHGC-77926 CDIR;DKFZp686B09210;DKFZp686L0547;KIAA0425;MYM;ZNF198L3;ZNF262 OTTHUMP00000004427;OTTHUMP00000004429;cell death inhibiting RNA;zinc finger MYM-type protein 4;zinc finger protein 262 protein-coding ENSG00000146463 HGNC:13055 10326 613568 VALIDATED 1351816 ZMYND10 zinc finger, MYND-type containing 10 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN inner dynein arm assembly; motile cilium assembly; outer dynein arm assembly; ASSOCIATED WITH Autosomal recessive inheritance (inferred); Bronchiectasis (inferred); Chronic bronchitis (inferred); FOUND IN cytoplasm; centriolar satellite (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; amiodarone; bisphenol A 3 3 3 p21.3 50351371 50355987 - 50378537 50383459 - 50341106 50346028 - 1580863;6480464;8699517;7240710;8554872 11076863;11085536;11230166;11256614;12477932;12629521;12794757;14702039;15122337;15489334;15489336;15540210;16189514;16381901;16641997;18616639;20394502;20877461;21988832;22246278;22349239;22766745;23329649;23628417;23891469;23891471;8125298 51364 C9JUQ8;F2Z3M9;O75800 AB209621;ABBA01024549;ABBA01024550;AC002481;AK058135;AK093455;AK096525;AK223343;AK308086;AK315123;AL833828;AMYH02006768;BC022186;BC033732;BE500984;CH471055;NG_023270;NM_015896;U70824;U70880;XM_005265216 AAB67311;AAC24726;AAC24728;AAH33732;BAD92858;BAD97063;BAG53316;CAD38688;CAL37695;CAL38065;EAW65103;EAW65104;EAW65105;NP_056980;O75800;XP_005265273 Hs.526735;Hs.627171 2154909 SHGC-56838 BLU;CILD22;FLU OTTHUMP00000210879;OTTHUMP00000210880;OTTHUMP00000210881;zinc finger MYND domain-containing protein 10;zinc finger, MYND domain containing 10 protein-coding ENSG00000004838 HGNC:19412 06145 607070;615444 VALIDATED 1316209 ZMYND12 zinc finger, MYND-type containing 12 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; pirinixic acid; aflatoxin B1 (ortholog) 1 1 1 p34.2 41177939 41203877 - 42896000 42921938 - 42430329 42456267 - 6480464;8554872 11230166;11256614;12477932;14702039;15489334;16710414;24250222 84217 B4DX70;E9PFV0;Q9H0C1 ABBA01023132;ABBA01023133;AK057384;AK301839;AL136858;AL445669;AL513331;AMYH02000879;BC024186;BQ441452;CH471059;NM_001146192;NM_032257 AAH24186;ABM82548;ABM85739;ACE86579;ACE87264;BAB71461;BAG63282;CAB66792;EAX07159;EAX07160;NP_001139664;NP_115633;Q9H0C1 Hs.294009 1675885;1787504 RH99085;SHGC-155430 DKFZp434N2435 OTTHUMP00000008434;zinc finger MYND domain-containing protein 12;zinc finger, MYND domain containing 12 protein-coding ENSG00000066185 HGNC:21192 15740 VALIDATED 1606319 ZMYND11 zinc finger, MYND-type containing 11 The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 p14 134734 255602 + 180405 300577 + 134465 254637 + 6480464 10734313;11148209;11244510;11733528;12477932;12659632;12894593;14651845;15164054;15231748;16300738;16344560;16382137;16565076;17000644;17567985;17721438;18029348;19322201;19379743;19766626;19795416;20138174;20211142;20425112;20732415;21988832;22810585;23602568;24590075;24654937;24866244;7621829;8889548;9663660 10771 B0QZE2;B7Z2J6;B7Z3Z1;E7ENI9;E7EV75;E9PE09;J3QKD2;Q15326;Q5BJG6;Q5UGI2 ABBA01035276;ABBA01035277;ABBA01035278;ABBA01035279;AI031881;AI244299;AK294469;AK294781;AK296427;AK296518;AK312570;AL589988;AL603831;AL713922;AL731539;AMYH02021967;AMYH02021968;AY732489;BC012586;BC034784;BC091489;BP873033;BU680177;CB241408;CF137216;CH471072;DB236591;DB521520;DC376390;DQ335452;DQ335453;DQ335454;DQ335455;NG_029960;NM_001202464;NM_001202465;NM_001202466;NM_001202467;NM_001202468;NM_006624;NM_212479;X86098;XM_005252359;XM_005252360;XM_005252361;XM_005252362;XM_005252363;XM_006717376 AAH12586;AAH34784;AAH91489;AAV33128;ABC72408;ABC72409;ABC72410;ABC72411;ABM82243;ABM85427;BAG35465;BAH11779;BAH11882;BAH12348;BAH12377;CAA60052;EAW86539;EAW86540;EAW86541;EAW86542;NP_001189393;NP_001189394;NP_001189395;NP_001189396;NP_001189397;NP_006615;NP_997644;Q15326;XP_005252416;XP_005252417;XP_005252418;XP_005252419;XP_005252420;XP_006717439 Hs.292265;Hs.740145 1335224;1663358;1672931;1681630;1736064;1767224;1787888;1797332;1850299;2116347;2117788;2143701;2163659;7187633 BS69_1838;D10S1340E;D10S1865;D10S249;G06312;G22469;G26357;RH45885;RH80240;SHGC-173566;SHGC-53435;STS-N33522;UniSTS:25682 BRAM1;BS69;MGC111056;RP11-486H9.1 BS69 variant 1;BS69 variant 2;BS69 variant 3;BS69 variant 4;OTTHUMP00000018935;OTTHUMP00000018936;OTTHUMP00000018937;OTTHUMP00000197455;OTTHUMP00000197456;adenovirus 5 E1A binding protein;adenovirus 5 E1A-binding protein;bone morphogenetic protein receptor-associated molecule 1;zinc finger MYND domain-containing protein 11;zinc finger, MYND domain containing 11 APPROVED protein-coding ENSG00000015171 HGNC:16966 09830 608668 REVIEWED 1320408 ZMYND15 zinc finger, MYND-type containing 15 This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] 17 17 17 p13.2 4658522 4664613 + 4643059 4649414 + 4740015 4746119 + 1580863;6480464;8699517;7240710;8554872 11230166;12477932;20675388 84225 Q9H091 AA937353;ABBA01054772;AC091153;AK302181;AK310469;AL136893;AMYH02032832;BC067296;BC090874;BC136407;CH471108;DB453494;NG_034160;NM_001136046;NM_001267822;NM_032265 BAG63547;CAB66827;EAW90414;EAW90415;NP_001129518;NP_001254751;NP_115641;Q9H091 Hs.47223;Hs.742549 1689795 RH93735 DKFZp434N127;SPGF14 OTTHUMP00000115952;zinc finger MYND domain-containing protein 15;zinc finger, MYND domain containing 15 APPROVED protein-coding ENSG00000141497 HGNC:20997 15741 614312;615842 REVIEWED 7174893 ZMYND19P1 zinc finger, MYND-type containing 19 pseudogene 1 14 14 14 58201626 58202221 + 78163112 78163707 + 77696769 77697364 + 100421055 ABBA01030646;AC008044;AMYH02029577;NG_027392 pseudo HGNC:44540 INFERRED 1353400 ZMYND19 zinc finger, MYND-type containing 19 ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008] 9 9 9 q34.3 111000209 111008592 - 140476531 140484937 - 137582076 137590485 - 1580863;6480464;8554872 12208518;12477932;15489334;16039987;16189514;18029348;19322201;24250222 116225 Q96E35 ABBA01022777;AJ298882;AL365502;AMYH02021942;AX766496;BC012948;BU147462;CH471090;NM_138462;XM_005266052;XM_006716950 AAH12948;ABM85574;CAC16691;CAE00329;EAW88402;NP_612471;Q96E35;XP_005266109;XP_006717013 Hs.128096 2149365;2149367 A005M05;G20324 RP11-48C7.4 MCH-R1-interacting zinc finger protein;MIZIP;OTTHUMP00000022706;melanin-concentrating hormone receptor 1 interacting zinc-finger protein;melanin-concentrating hormone receptor 1-interacting zinc finger protein;zinc finger MYND domain-containing protein 19;zinc finger, MYND domain containing 19 APPROVED protein-coding ENSG00000165724 HGNC:21146 15743 611424 VALIDATED 1343481 ZNF1 zinc finger protein 1 (A11-500) 7548 HGNC:12878 7204954 ZNF101P1 zinc finger protein 101 pseudogene 1 10 10 10 28391556 28393329 - 28628206 28629979 - 28339277 28341050 - 100419867 ABBA01034378;AC022021;AMYH02022527;NG_025421 pseudo HGNC:44940 INFERRED 1354323 ZNF100 zinc finger protein 100 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; methyl methanesulfonate; paracetamol 19 19 19 p12 21739120 21782699 - 21906417 21950430 - 21723615 21767628 - 737633;1580863;6480464 12477932 15146197;15489334;16344560;22505724;8467795 163227 M0R071;M0R0Q1;Q8IYN0 ABBA01051393;AC092364;AK126551;AK308798;AMYH02035811;BC031248;BC035579;BX640982;CH471106;CN302052;DA241750;NM_173531;XM_005259783;XM_005259784;XM_005259785;XM_006722662;XM_006722663;XM_006726232;XM_006726233;XM_006726234;XM_006726235 AAH31248;AAH35579;CAE45992;EAW84905;EAW84906;NP_775802;Q8IYN0;XP_005259840;XP_005259841;XP_005259842;XP_006722725;XP_006722726;XP_006726295;XP_006726296;XP_006726297;XP_006726298 Hs.365142 2220430;2220626;5015881;5024761;5037552;7186918 D8S2279;ERV3;GDB:335751;RH36905;UniSTS:481985;UniSTS:486333 FLJ44587 zinc finger protein 100 (Y1) protein-coding ENSG00000197020 HGNC:12880 10359 603982 VALIDATED 1342937 ZNF10 zinc finger protein 10 The protein encoded by this gene contains a C2H2 zinc finger, and has been shown to function as a transcriptional repressor. The Kruppel-associated box (KRAB) domain of this protein is found to be responsible for its transcriptional repression activity. RING finger containing protein TIF1 was reported to interact with the KRAB domain, and may serve as a mediator for the repression activity of this protein. [provided by RefSeq, Jul 2008] 12 12 12 q24.33 133407511 133436350 + 133707214 133736051 + 133130628 133159465 + 1580863;6480464;8554872 10022127;10653693;10748030;11405226;12477932;15489334;16904636;17043677;17512541;18029348;2014798;20176155;21170338;2288909;24250222;7649249;7865130;8262519;8769649;9016654;9278146 7556 F5GZ75;F5H0R3;F5H311;F8WD46;P21506;Q9UG14 ABBA01042528;ABBA01042529;AC026786;AI972895;AK314784;AL110188;AMYH02027598;BC024182;BE895826;CH471218;NM_015394;X52332 AAH24182;ABZ92247;BAG37318;CAA36558;CAB53668;EAW54790;EAW54791;EAW54792;NP_056209;P21506 Hs.573983 1661644;1691228;1774587;2109007;2187398 RH81094;STS-H65839;STS-R02295;STS-R81342;ZNF10_7906 KOX1 OTTHUMP00000237407;OTTHUMP00000237409;OTTHUMP00000237410;OTTHUMP00000237411;zinc finger protein 10 (KOX 1);zinc finger protein KOX1 APPROVED protein-coding ENSG00000256223 HGNC:12879 01923 194538 REVIEWED 7205172 ZNF101P2 zinc finger protein 101 pseudogene 2 1 1 1 q31.2 166072160 166073522 - 192962553 192963915 - 192993423 192994785 - 730190 ABBA01027636;AL136370;AMYH02002380;NG_022749 pseudo HGNC:44942 INFERRED 1350989 ZNF101 zinc finger protein 101 Zinc finger proteins (ZNFs), such as ZNF101, bind nucleic acids and perform many key functions, the most important of which is regulating transcription (summary by Bellefroid et al., 1993 [PubMed 8467795]). See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Nov 2010] 19 19 19 p13.11 19683733 19695212 + 19778962 19791735 + 19668153 19680926 + 737633;1580863;6480464;8554872 12477932 11441184;14702039;14727140;16189514;17081983;19060911;20864672;22094256;22359512;8467795 94039 K7EN16;K7ENV8;Q504T0;Q8IZC7 ABBA01051339;AC011458;AK097169;AL096747;AMYH02035760;AY149174;BC011502;BC094808;BC119680;BC119681;BM972114;CH471106;CR999939;DB264378;NM_001300949;NM_033204;XM_005260165;XM_006722942 AAH11502;AAH94808;AAI19681;AAN46749;BAG53429;CAB46422;EAW84855;EAW84856;EAW84857;NP_001287878;NP_149981;Q8IZC7;XP_005260222;XP_006723005 Hs.631642;Hs.63187 1852585;5015619;5037552;5109281;5109663 D11S3114;D1S1425;D7S2067E;D8S2279;SHGC-52451 DKFZp570I0164;HZF12;MGC149565;MGC149566 OTTHUMP00000236681;zinc finger protein 101 (Y2);zinc finger protein 12;zinc finger protein HZF12 APPROVED protein-coding HGNC:12881 11963 603983 VALIDATED 1344186 ZNF107 zinc finger protein 107 (Y8) 7660 C9JSF9 1671052;1677374;1679704;1680683;1719369;1790187;2117090;2133759 A008B28;D7S3260;GDB:1317884;RH123412;RH40793;RH68078;RH93588;SHGC-33722 HGNC:12887 603989 1319938 ZMYND8 zinc finger, MYND-type containing 8 The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 42552068 42699142 - 45837994 45985485 - 47209214 47356889 - 1580863;6480464 10469140;10574461;11003709;11149944;11780052;12477932;12775419;14702039;15095401;15231748;15302935;15489334;16147992;16565076;16713569;17081983;19471022;19913121;20133760;20628086;21693764;21890473;21900206;21988832;22939629;23000965;23667531;23752268;24163370;24654937;25027693;8125298 23613 A6H8Y8;H7C4X9;Q2HXV5;Q569J9;Q5TH07;Q5TH08;Q5TH12;Q9ULU4 AB032951;ABBA01052692;ABBA01052693;ABBA01052694;ABBA01052695;ABBA01052696;ABBA01052697;AF144233;AF233453;AF273045;AF454056;AI275390;AK000275;AK001175;AK026151;AK074262;AK098067;AK122966;AK225857;AK294511;AK295747;AK299899;AK309228;AL022342;AL031666;AL049540;AL137703;AMYH02037167;AMYH02037168;BC030721;BC092432;BC136608;BC144289;BC146802;BI553958;BX095755;BX641005;CH471077;DC362133;DQ082998;DQ082999;DQ368669;DQ368670;DQ368671;DQ368672;DQ368673;DQ368674;DQ368675;DQ368676;DQ368677;DQ368678;DQ368679;DQ368680;DR422399;KF456929;KF456930;NM_001281769;NM_001281771;NM_001281772;NM_001281773;NM_001281774;NM_001281775;NM_001281776;NM_001281777;NM_001281778;NM_001281779;NM_001281780;NM_001281781;NM_001281782;NM_001281783;NM_001281784;NM_012408;NM_183047;NM_183048;U48251;XM_005260356;XM_005260358;XM_005260360;XM_005260361;XM_005260362;XM_005260364;XM_005260365;XM_005260366;XM_005260369;XM_005260371;XM_005260377;XM_006723760;XM_006723761;XM_006723762;XM_006723763;XM_006723764;XM_006723765;XM_006723766;XM_006723767;XM_006723768 AAC72244;AAF06063;AAF71262;AAG34905;AAH30721;AAH92432;AAI36609;AAI44290;AAI46803;AAL50790;AAY85630;AAY85631;ABC86680;ABC86681;ABC86682;ABC86683;ABC86684;ABC86685;ABC86686;ABC86687;ABC86688;ABC86689;ABC86690;ABC86691;BAA86439;BAG53824;BAH11794;BAH12176;BAH13166;CAE46008;CAI23168;CAI23169;CAI46211;EAW75703;EAW75704;EAW75705;EAW75706;EAW75707;EAW75708;EAW75709;EAW75710;EAW75711;EAW75712;EAW75713;EAW75714;EAW75715;NP_001268698;NP_001268700;NP_001268701;NP_001268702;NP_001268703;NP_001268704;NP_001268705;NP_001268706;NP_001268707;NP_001268708;NP_001268709;NP_001268710;NP_001268711;NP_001268712;NP_001268713;NP_036540;NP_898868;NP_898869;Q9ULU4;XP_005260413;XP_005260415;XP_005260417;XP_005260418;XP_005260419;XP_005260421;XP_005260422;XP_005260423;XP_005260426;XP_005260428;XP_005260434;XP_006723823;XP_006723824;XP_006723825;XP_006723826;XP_006723827;XP_006723828;XP_006723829;XP_006723830;XP_006723831 Hs.446240;Hs.658553;Hs.668465 1335563;1653674;1656300;1667492;1667641;1668800;1681137;1686106;1740105;1847436;2117403;2130059;2131599;2133333;2142516;2155838;2165530 D20S1104;D20S692;D20S764;D20S770;D20S891;G18078;RH16216;RH36015;RH66080;RH98433;RH98976;SGC34777;SHGC-32648;STS-R11529;STS-T65756;WI-17092;Z94298 MGC31836;PRKCBP1;PRO2893;RACK7 CTCL tumor antigen se14-3;CTCL-associated antigen se14-3;OTTHUMP00000043381;OTTHUMP00000043384;OTTHUMP00000214693;OTTHUMP00000214694;OTTHUMP00000214695;OTTHUMP00000214761;OTTHUMP00000214762;OTTHUMP00000214763;cutaneous T-cell lymphoma associated antigen se14-3;cutaneous T-cell lymphoma-associated antigen se14-3;predicted protein of HQ2893;protein kinase C-binding protein 1;zinc finger MYND domain containing protein 8;zinc finger MYND domain-containing protein 8 APPROVED protein-coding ENSG00000101040 HGNC:9397 10166 615713 REVIEWED 1343281 ZNF106 zinc finger protein 106 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN insulin receptor signaling pathway (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytosol (inferred); membrane (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; lead(0); lead(2+) 15 15 15 q15.1 19472730 19517437 - 42705016 42783390 - 42412437 42491197 - 6480464;8554872 12434312;12477932;14702039;15175327;15231748;15302935;15489334;15635413;15656981;17000644;17081983;19471022;20360068;20379614;20936779;21139048;21693764;21890473;21963094;23000965 64397 E9PE29;H3BNJ4;H3BNX5;H3BRD4;H3BS99;H3BSS6;Q9H2Y7;U3KQH7 ABBA01038373;ABBA01038374;ABBA01038375;ABBA01038376;ABBA01038377;AC012651;AC018362;AF205632;AF209502;AI658947;AK024726;AK055517;AK057410;AK091929;AK127741;AK226132;AK294529;AK302735;AL831983;AL832014;AL832352;AL832367;AL832455;AL833301;AMYH02030284;AMYH02030285;BC014922;BC029366;BC058023;BC070244;BC111396;BX648629;BX649141;CH471125;DC403912;FB775578;NM_001284306;NM_001284307;NM_022473;XM_005254591;XM_005254592 AAG35666;AAH29366;AAH58023;AAH70244;AAI11397;AAI56041;AAI72483;AAL40184;BAB14976;BAB71475;BAG57738;BAG63952;CAD89926;CAD91134;CAD91142;CAD91147;CAD91149;CAD91157;CAV30746;EAW92551;EAW92552;EAW92553;EAW92554;NP_001271235;NP_001271236;NP_071918;Q9H2Y7;XP_005254648;XP_005254649 Hs.511143;Hs.735946 1647421;1652869;1666992;1675457;1685898;1688757;1698950;1733658;1736480;1736818;1736820;1736822;2120225;2145414;2163943;5015619;5037552 D11S3114;D15S627E;D15S634E;D15S690E;D15S804;D15S805;D15S806;D15S807;D8S2279;EST160846;G19633;RH103044;RH10446;RH15696;RH39514;RH44783;SHGC-57409 DKFZp451A239;FLJ34610;FLJ45841;SH3BP3;ZFP-106;ZFP106;ZNF106;ZNF474 SH3-domain binding protein 3;zinc finger protein 106 homolog;zinc finger protein 474 APPROVED protein-coding ENSG00000103994 HGNC:12886 10317 VALIDATED 1348531 ZNF115 zinc finger protein 115 (Y20) 7668 HGNC:12895 1344106 ZNF114P1 zinc finger protein 114 pseudogene 1 21 21 21 q11.2 403136 404200 - 15211051 15212115 + 13838730 13839794 + 100132509;387493 ABBA01057063;AC245051;AL109748;CH878733;NG_023336 EAW57524 pseudo HGNC:23771 INFERRED 1350257 ZNF116 zinc finger protein 116 (Y21) 7669 HGNC:12896 1313981 ZNF112 zinc finger protein 112 DISCONTINUED: This record has been withdrawn by HGNC 19 19 19 q13.2 41634798 41664883 - 44830706 44860856 - 44326553 44356704 - 1580863;6480464;8554872 12477932;12743021;14702039;15057824;16344560;8467795 7771 Q0VG01;Q9UJU3 AA449338;AA913353;ABBA01040876;AC084239;AC138473;AC245748;AF198358;AK023099;AK026230;AK130371;AK302966;AL122078;AMYH02036178;AU130692;BC101753;BC117223;CH471126;DB288887;NM_001083335;NM_013380 AAF12816;AAG23968;AAI01754;AAI17224;ADR83281;BAG51156;BAG64114;CAB59253;EAW57268;EAW57269;NP_001076804;NP_037512;Q9UJU3 Hs.48589 1704060;1721385;2120164;2138996;2220038 G59694;RH46140;SHGC-77861;STS-N62629;ZNF228__4985 ZFP112;ZNF112;ZNF228 zfp-112;zinc finger protein 112;zinc finger protein 112 (Y14);zinc finger protein 112 homolog;zinc finger protein 228 APPROVED protein-coding ENSG00000062370 HGNC:12892 15753 603994 VALIDATED 1351865 ZNF114 zinc finger protein 114 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 19 19 19 q13.33 45639894 45656094 + 48774354 48790863 + 48271079 48287606 + 6480464 12477932;19056867;8467795 163071 M0QXN8;M0R0H2;M0R0V4;Q8NC26 ABBA01033006;ABBA01033007;AC008392;AK075062;AK291575;AMYH02036289;AMYH02036290;AMYH02036291;AMYH02036292;BC014935;BC016811;BC034032;BC050996;BC125068;BC125069;BU182389;CH471177;CQ783060;DC343694;NM_001301062;NM_153608;XM_005258579;XM_005258580 AAH34032;AAI25069;AAI25070;BAC11378;BAF84264;CAF86265;EAW52326;NP_001287991;NP_705836;Q8NC26;XP_005258636;XP_005258637 Hs.511883 1789468;2110563;5015619;5021872;5022578;5022651;5037552;5109281 D11S2921;D11S3114;D1S1423;D1S1425;D8S2279;G68141;MGC17986__7682;sY3084 MGC149700;MGC17986 zinc finger protein 114 (Y18) protein-coding ENSG00000178150 HGNC:12894 14463 603996 VALIDATED 1343483 ZNF107 zinc finger protein 107 This gene encodes a protein containing multiple C2H2-type zinc finger regions. Proteins containing zinc fingers may act as transcriptional regulators, but may also have other cellular functions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 7 7 7 q11.2 57846245 57891154 + 64126461 64171960 + 64666083 64711582 + 1580863;6480464 10673043;12477932;12853948;15231748;15489334;15576338;16344560;22505724;8467795 51427 Q8WVL4;Q9H3U2;Q9UII5 AB014735;AB027251;ABBA01027981;ABBA01027982;ABBA01027983;ABBA01027984;AC016769;AC091799;AK303931;AMYH02015853;AMYH02015854;BC017809;BC047243;BC053669;CH471204;DA723595;NM_001013746;NM_001282359;NM_001282360;NM_016220;NR_104148;NR_104149;XM_005250401;XM_006716022 AAH17809;AAH47243;AAS07499;BAA85623;BAB20272;BAG64859;EAW77973;EAW77974;EAW77975;EAW77976;EAW77977;EAW77978;NP_001013768;NP_001269288;NP_001269289;NP_057304;Q9UII5;XP_005250458;XP_006716085 Hs.50216;Hs.732661 Y8;ZFD25;ZNF588;smap-7 zinc finger protein (ZFD25);zinc finger protein 588 APPROVED protein-coding ENSG00000196247 HGNC:12887 18669 603989 VALIDATED 1345056 ZNF11A zinc finger protein 11a (KOX 2) 1580863 8464732 7557 P17013 X68686 HGNC:12900 1351916 ZNF11B zinc finger protein 11b (KOX 2) ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 1580863 1639412 7558 Q06732 AJ491697;NM_006955 HGNC:12901 1346874 ZNF123P zinc finger protein 123, pseudogene 11 11 11 q24.3 126333827 126335239 - 129165098 129166510 - 129295203 129296615 - 1580863 1339395;1992479 100188891 ABBA01023019;AMYH02025774;AP002886;NG_008436;S52506 AAB24880 1677458;7185398 D11S1003 HZF-1;ZNF123 APPROVED pseudo HGNC:12906 194630 INFERRED 1354391 ZNF125 zinc finger protein 125 q23.1-q23.2 1580863;6480464 1339395 7679 S52508 AAB24882;P35274 HZF-3;HZF3 protein-coding HGNC:12908 1343353 ZNF117 zinc finger protein 117 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper atom; copper(0) 7 7 7 q11.21 58153899 58170471 - 64434830 64451414 - 64974452 64991036 - 1580863;6480464;8554872 12477932;1427907;2023909;20379614;2115127;22505724;2505992 51351 Q03924 ABBA01027989;AC073210;AF075025;AMYH02015862;AMYH02015863;BC034021;M27879;M55422;M61867;NM_015852 AAA36010;AAA58666;AAG41761;AAI56437;AAI72492;NP_056936;Q03924 Hs.250693 1654032;1665602;1675453;1680226;2149199;2220430;2220626;5016851;5037552;5127398;7186918 D8S2279;ERV3;RH17834;RH70049;RH80031;SHGC-32256;SHGC-36553;SHGC-77159;UniSTS:481985;UniSTS:486333 H-plk;HPF9;MGC22613 Krueppel-related zinc finger protein;OTTHUMP00000210209;provirus-linked krueppel;zinc finger protein 117 (hpf9);zinc finger protein HPF9 protein-coding ENSG00000152926 HGNC:12897 08937;13619 194624 VALIDATED 1352717 ZNF126 zinc finger protein 126 q13.3-q13.4 1580863 1339395 7680 S52507 AAB24881;P35275 HZF-2;HZF2 protein-coding HGNC:12909 1342983 ZNF121 zinc finger protein 121 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; amiodarone 19 19 19 p 9571743 9590665 - 9676292 9695209 - 9565616 9584533 - 6480464;8554872 12934113;15146197;17314511;21890473;22505724;22990118;8468057 7675 K7EQI1;P58317 ABBA01029970;ABBA01029971;AC008567;AC008759;AK297919;AMYH02035467;AU253046;CH471106;CN360954;CN360955;M99593;NM_001008727;XM_005260062;XM_005260064 AAI72258;AAI72553;BAG60237;EAW84042;NP_001008727;P58317;XP_005260119;XP_005260121 Hs.501537 1647896;1741835;5015961;5037552 D15S1477;D8S2279;GDB:185476;RH66019 D19S204;ZHC32;ZNF20 zinc finger protein 121 (clone ZHC32);zinc finger protein 20 protein-coding ENSG00000197961 HGNC:12904 15952 194628 VALIDATED 1347064 ZNF13 zinc finger protein 13 (KOX 5) 1580863 7560 P17016 X52336 HGNC:12913 1314784 ZNF124 zinc finger protein 124 This gene encodes a protein with an amino-terminal KRAB-A box and multiple repeated Kruppel-type (C2H2) zinc finger motifs at its carboxy terminus. The encoded protein may function as a transcription factor. Expression of this gene is increased after vascular endothelial growth factor (VEGF) stimulation in human leukemia cell lines and results in inhibition of apoptotic cell death induced by irradiation or exposure to etoposide. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2014] 1 1 1 q44 220615603 220631711 - 247285277 247335529 - 247121975 247172016 - 1580863;6480464;8554872 10667597;12142086;12477932;14702039;15489334;16344560;16710414;17431901;20360068;21314694;22082156;22505724;7916577 7678 J3QKQ6;Q15973 ABBA01031781;ABBA01031782;AK054647;AK131017;AL390728;AMYH02003131;AMYH02003132;BC013605;BC032514;BC096349;BC096350;BC096351;BC099661;BU607971;CH471148;DA610013;DA911997;DN993107;NG_029824;NM_001243740;NM_001297567;NM_001297568;NM_001297569;NM_003431;S54641;XM_005273256;XM_005273257;XM_006711813 AAB25346;AAB25347;AAH96349;AAH96350;AAH96351;AAH99661;BAG51405;EAW77169;NP_001230669;NP_001284496;NP_001284497;NP_001284498;NP_003422;Q15973;XP_005273313;XP_005273314;XP_006711876 Hs.421238;Hs.621705;Hs.655205;Hs.743338 1692546;5022651;5037552 AL034049;D11S2921;D8S2279 HZF-16;HZF16;MGC117046;ZK7 OTTHUMP00000038603;zinc finger protein HZF-16 APPROVED protein-coding ENSG00000196418 HGNC:12907 01936 194631 REVIEWED 1349914 ZNF12 zinc finger protein 12 This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 5988584 6007102 + 6728064 6746566 - 6688433 6706935 - 1580863;6480464 12477932;14702039;16806083;18187620;2026422;21890473;2288909;24250222;24816145;7865130 7559 H9KV98;P17014 AB021643;ABBA01056504;AC073343;AF505656;AI879099;AK022691;AK055709;AK293925;AMYH02015181;AMYH02015182;AY500354;BC051892;BC137068;BC137069;BC144465;BC154414;BX114779;BX640749;CH236963;CH878731;NM_006956;NM_016265;X52334;XR_242099;XR_242100 AAI37069;AAI37070;AAI54415;AAM28195;AAS55104;BAA86989;BAB14183;BAG57306;CAA36560;CAE45857;EAW55012;EAW55013;EAW55014;EAW55015;EAW55016;NP_008887;NP_057349;P17014 Hs.431471 1667287;2115130;2115952;2187311;2187313;5108151 D7S2110E;NIB1508;RH48129;RH65427;RH69242;ZNF12 GIOT-3;HZF11;KOX3;ZNF325 OTTHUMP00000200756;OTTHUMP00000200757;OTTHUMP00000200758;gonadotropin inducible transcription repressor 3;gonadotropin-inducible ovary transcription repressor 3;zinc finger protein 11;zinc finger protein 325;zinc finger protein KOX3 APPROVED protein-coding ENSG00000164631 HGNC:12902 11835;15773 194536 REVIEWED 1353025 ZNF131 zinc finger protein 131 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription from RNA polymerase II promoter (inferred); transcription from RNA polymerase II promoter (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 5 5 5 p12 43012883 43067075 + 43120985 43176351 + 43120883 43176249 + 1580863;6480464 12163020;12477932;14702039;15372022;15489334;17306895;17573780;18847501;20805357;21252943;21693764;21963094;21987572;22467880;22939629;23159625;23404503;7557990 7690 D6R9I2;D6RAT8;D6RBK1;D6RD61;D6RE06;D6RFI6;D6RJ09;D6RJH2;H0Y974;P52739 ABBA01024247;ABBA01024248;ABBA01024249;ABBA01024250;ABBA01024251;ABBA01024252;ABBA01024253;ABBA01024254;AC106800;AK057343;AK299315;AK307963;AK307974;AK307977;AK310735;AMYH02011233;AMYH02011234;AMYH02011235;AMYH02011236;AMYH02011237;AMYH02011238;BC017923;BC035875;CH471119;CN280871;DC326279;DC371902;NM_001297548;NM_003432;NR_123719;NR_123720;U09410;XM_005248359;XM_005248360;XM_005248361;XM_005248362;XM_005248363;XM_005248365;XM_005248367 AAC50251;AAH35875;BAG51904;BAG61325;EAW56046;EAW56047;EAW56048;NP_001284477;NP_003423;P52739;XP_005248416;XP_005248417;XP_005248418;XP_005248419;XP_005248420;XP_005248422;XP_005248424 Hs.535804 1667293;1669064;1669066;1670355;1686933;1785530;1794318;2181607;2220616 A006A29;G20654;PMC311006P8;RH79112;RH92085;SHGC-154585;SHGC-64136;STS-U09410;UniSTS:485831 ZBTB35;pHZ-10 OTTHUMP00000221616;OTTHUMP00000221617;OTTHUMP00000221618;OTTHUMP00000221620;OTTHUMP00000221621;zinc finger and BTB domain containing 35;zinc finger protein 131 (clone pHZ-10) protein-coding ENSG00000172262 HGNC:12915 604073 VALIDATED 1352509 ZNF134 zinc finger protein 134 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); INTERACTS WITH copper(2+) sulfate; disodium selenite; formaldehyde 19 19 19 q13.4 55169407 55177213 + 58125830 58133636 + 57614462 57622268 + 1580863;6480464 12477932;18029348;7557990 7693 M0QXC7;M0R246;P52741 ABBA01020805;AC003682;AK291763;AMYH02036518;BC011646;BC021280;BC042636;BC112294;BC113410;CH471135;NM_003435;U09412;XM_006726788 AAC24610;AAC50253;AAH11646;AAH21280;AAH42636;AAI12295;AAI13411;ABZ92445;ACE86954;ACE87645;ADR83158;BAF84452;EAW72518;NP_003426;P52741;XP_006726851 Hs.469694 1851571;2186341 D19S1016;STS-U09412 MGC138499;MGC141970;pHZ-15 zinc finger protein 134 (clone pHZ-15) protein-coding HGNC:12918 07241 604076 PROVISIONAL 1350451 ZNF132 zinc finger protein 132 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-); benzo[a]pyrene 19 19 19 q13.4 55988179 55995587 - 58944181 58951589 - 58432814 58440222 - 1580863;6480464;8554872 12477932;14702039;16751776;17975119;19023099;21445975;7557990 7691 B3KQ54;P52740 ABBA01020766;AC012313;AK057460;AK313895;AMYH02036536;BC109107;BC109108;BQ774411;CH471135;NM_003433;U09411;XM_005259210;XM_006723361 AAC50252;AAI09108;AAI09109;ABZ92444;BAG36618;BAG51916;EAW72590;EAW72591;NP_003424;P52740;XP_005259267;XP_006723424 Hs.156169 1665428;1680120;1779610;2106749 RH71196;RH98347;SHGC-153581;ZNF132__4959 MGC126390;MGC126391;pHZ-12 protein-coding ENSG00000131849 HGNC:12916 07240 604074 VALIDATED 1343941 ZNF133 zinc finger protein 133 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; arsenite(3-); copper(2+) sulfate 20 20 20 p11.23 18343191 18371711 + 18268872 18297640 + 18288283 18316996 + 1580863;6480464;8554872 11780052;12477932;14578011;15342556;15489334;16341674;16344560;16712791;17934332;18029348;20195357;21900206;7557990;7649249;8769649;9278146 7692 B4DFU5;P52736;Q5JXV9;Q5JXW0;Q5JXW1 ABBA01054045;AK123005;AK291389;AK294263;AK295273;AK295513;AK313525;AK316386;AL049646;AMYH02036778;BC001887;BJ991526;BM857132;BP329060;BP335936;BT007310;CB152672;CH471133;DA438712;DA492840;DA905894;DB270242;DC340617;DC365467;NM_001083330;NM_001282995;NM_001282996;NM_001282997;NM_001282998;NM_001282999;NM_001283000;NM_001283001;NM_001283002;NM_001283003;NM_001283004;NM_001283005;NM_001283006;NM_001283007;NM_001283008;NM_003434;XM_005260818;XM_005260819;XM_005260820;XM_005260823;XM_006723616;XM_006723617;XM_006723618;XM_006723619 AAH01887;AAP35974;BAF84078;BAG57556;BAG58259;BAG58430;BAH14757;EAX10249;EAX10250;EAX10251;EAX10252;EAX10253;NP_001076799;NP_001269924;NP_001269925;NP_001269926;NP_001269927;NP_001269928;NP_001269929;NP_001269930;NP_001269931;NP_001269932;NP_001269933;NP_001269934;NP_001269935;NP_001269936;NP_001269937;NP_003425;P52736;XP_005260875;XP_005260876;XP_005260877;XP_005260880;XP_006723679;XP_006723680;XP_006723681;XP_006723682 Hs.472221 1778512;2108655;2143076 RH66082;WI-18789;ZNF133_8742 ZNF150;pHZ-13;pHZ-66 OTTHUMP00000042628;OTTHUMP00000063118;OTTHUMP00000063119;OTTHUMP00000063121;zinc finger protein 133 (clone pHZ-13);zinc finger protein 150 (pHZ-66) protein-coding ENSG00000125846 HGNC:12917 04964 604075 VALIDATED 1345728 ZNF136 zinc finger protein 136 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); transcription corepressor activity (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; fonofos 19 19 19 p13.2 12186369 12194643 + 12273872 12300064 + 12163057 12209613 + 1580863;6480464;8554872 12477932;14702039;15489334;16189514;16344560;19060904;19156129;22505724;24136724;7557990;7649249;7865130 7695 C9J2Q9;C9JJK8;C9JR58;P52737 ABBA01029804;AC012618;AC022415;AK123008;AK291242;AK299601;AMYH02035546;AY500356;BC006421;BQ574220;CH471106;DB200139;DB369850;KF456501;NM_003437;U09367;XM_006722882 AAC50261;AAH06421;AAS55106;ADZ15422;BAF83931;BAG61532;EAW84264;NP_003428;P52737;XP_006722945 Hs.479874 1650618;2108657;2147097 D19S1165;RH79111;ZNF136_8744 pHZ-20 OTTHUMP00000209870;OTTHUMP00000209871 protein-coding ENSG00000196646 HGNC:12920 04965 604078 VALIDATED 1349048 ZNF135 zinc finger protein 135 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN cytoskeleton organization; regulation of cell morphogenesis; FOUND IN intracellular (inferred); INTERACTS WITH 17beta-estradiol; bucladesine; disodium selenite 19 19 19 q13.4 55613970 55624470 + 58570607 58581123 + 58059239 58069755 + 1580863;6480464 12477932;14702039;1505991;15146197;16344560;1946370;21900206;22505724;7557990;8478004 7694 B4DLZ7;M0R0N7;P52742;Q8N9M3 ABBA01020786;AC008751;AK094202;AK095796;AK098011;AK295110;AK297226;AL833637;AMYH02036527;BC046434;BM993886;BX647775;CH471135;CN367970;DA232862;DB117846;DB304820;M88370;NM_001164527;NM_001164529;NM_001164530;NM_001289401;NM_001289402;NM_003436;NM_007134;U09413;X65231;XM_005259211;XM_006723362;XM_006723363 AAA61328;AAC50254;AAH46434;BAC04309;BAC05214;BAG58141;BAG59709;CAA46338;EAW72552;EAW72553;EAW72554;EAW72555;EAW72556;NP_001157999;NP_001158001;NP_001158002;NP_001276330;NP_001276331;NP_003427;NP_009065;P52742;XP_005259268;XP_006723425;XP_006723426 Hs.85863 1685259;1687449;2110069;2175389;5015330 AF020182;DXS7489;RH39178;RH98773;ZNF135_8743 ZNF61;ZNF78L1;pHZ-17;pT3 OTTHUMP00000218800;OTTHUMP00000218801;OTTHUMP00000218802;OTTHUMP00000218803;OTTHUMP00000218804;zinc finger protein 135 (clone pHZ-17);zinc finger protein 61;zinc finger protein 78-like 1 (pT3) protein-coding ENSG00000176293 HGNC:12919 07242 604077 VALIDATED 1345314 ZNF137P zinc finger protein 137, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; quercetin 19 19 19 q13.4 50149203 50152671 + 53099937 53103405 + 52596684 52600152 + 1580863;6480464 12477932;15489334;20211142;7557990 7696 P52743 ABBA01068247;AC022150;AMYH02036403;BC110455;BC110456;BM988340;BQ893730;NR_023311;U09414 AAC50255 Hs.373648 1714853;2135070;5106800 RH120421;RH79113;STS-U09414 MGC119990;MGC119991;ZNF137;pHZ-30 APPROVED pseudo HGNC:12921 07243 604079 VALIDATED 1351095 ZNF140 zinc finger protein 140 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 4-(ethoxymethylene)-2-phenyloxazol-5-one; asbestos; benzo[a]pyrene diol epoxide I 12 12 12 q24.33 133357326 133384557 + 133657005 133685566 + 133080419 133108976 + 1580863;6480464 12477932;14702039;21145461;7557990;7649249;8769649 7699 F5GX08;F5H3Z2;F5H4I1;F5H644;F8WAF8;I3L0D9;I3L0I7;P52738 ABBA01042530;AC026786;AC073911;AK122741;AK296572;AK303240;AK313145;AMYH02027598;BC022291;BC040561;BM477600;BM678085;CH471218;DA121867;NM_001300776;NM_001300777;NM_001300778;NM_003440;U09368;XM_005266188;XM_005266190;XR_245353 AAC50262;AAH22291;AAH40561;BAG35963;BAG53698;BAG59192;BAG64326;EAW54794;EAW54795;EAW54796;EAW54797;EAW54798;NP_001287705;NP_001287706;NP_001287707;NP_003431;P52738;XP_005266245;XP_005266247 Hs.181552 1732021;2122498;2177069;2220026 D12S399;D17S1997;RH48873;ZNF140__4961 pHZ-39 OTTHUMP00000237394;OTTHUMP00000237395;OTTHUMP00000237396;OTTHUMP00000237398;OTTHUMP00000237399;OTTHUMP00000237400;OTTHUMP00000237402 protein-coding ENSG00000196387 HGNC:12925 04966 604082 VALIDATED 1353909 ZNF138 zinc finger protein 138 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; clorgyline 7 7 7 q11.21 57974871 58015308 + 64254766 64314178 + 64794388 64853800 + 1580863;6480464;8554872 12477932;14702039;16344560;19247474;20379614;22505724;7557990;8889549 7697 A2RRP7;C9JHF6;E7EWC5;J3QSS9;P52744 AA114243;ABBA01027986;AC073349;AK027335;AK055644;AK294302;AK298230;AL597519;AL834121;AMYH02015857;AMYH02015858;BC017945;BC037426;BC047786;BC067817;BC131762;BC141847;CH471204;DA141582;DA442912;DA624602;DA885282;DB208290;KF458472;NM_001160183;NM_001271637;NM_001271638;NM_001271639;NM_001271640;NM_001271649;NM_006524;NR_073389;NR_073391;U09847;XM_006716115;XM_006716116;XM_006716117 AAC50263;AAH17945;AAI31763;BAG51547;BAG57583;BAG60499;EAW77979;EAW77980;EAW77981;EAW77982;EAW77983;NP_001153655;NP_001258566;NP_001258567;NP_001258568;NP_001258569;NP_001258578;NP_006515;P52744;XP_006716178;XP_006716179;XP_006716180 Hs.184080 1681534;1687019;2146349;2220430;2220626;5016670;5109663;5113020;5124576;7186918 D7S2067E;ERV3;RH27227;RH36724;RH40629;RH65078;RH80873;UniSTS:481985;UniSTS:486333;ZNF138 pHZ-32 OTTHUMP00000210145;OTTHUMP00000210148;OTTHUMP00000210149;zinc finger protein 138 (clone pHZ-32) protein-coding ENSG00000197008 HGNC:12922 07244 604080 VALIDATED 1353813 ZNF141 zinc finger protein 141 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN limb morphogenesis; ASSOCIATED WITH Autosomal recessive inheritance (inferred); POLYDACTYLY, POSTAXIAL, TYPE A6 (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH clorgyline; hydroquinone O-beta-D-glucopyranoside; valproic acid 4 4 4 p16.3 273305 309402 + 331417 370076 + 337628 373953 + 1580863;6480464;8699517;7240710;8554872 12477932;15489334;15576338;16344560;22505724;23160277;8268908;9671765 7700 D6RB60;D6RIY0;Q15928 ABBA01019327;AC079140;AC092574;AMYH02008550;AMYH02008551;BC036854;BC057244;BC074853;CH471131;DA385292;L15309;NM_003441;XM_005278365 AAC37529;AAH74853;AAY41036;EAW82669;EAW82670;EAW82671;NP_003432;Q15928;XP_005278422 Hs.654355 1772902;1850146;2220430;2220626;5106791 D4S3146;G33430;SHGC-58309;UniSTS:481985;UniSTS:486333 D4S90;PAPA6;pHZ-44 OTTHUMP00000216729;OTTHUMP00000216730;OTTHUMP00000216731;zinc finger protein 141 (clone pHZ-44) protein-coding HGNC:12926 01937 194648;615226 VALIDATED 1320100 ZNF142 zinc finger protein 142 The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] 2 2 2 q35 213270397 213292019 - 219502639 219524355 - 218637916 218659632 - 1580863;6480464;8554872 12477932;14702039;16730941;17081983;20379614;20881960;20936779;21139048;22959728;7557990;8889548;9039502 7701 C9J055;C9JBL7;F2Z2H3;H7C414;P52746 ABBA01023861;ABBA01023862;AC012510;AC079810;AK095027;AMYH02005803;AMYH02005804;AMYH02005805;BC033631;BC038226;BC053849;BM719343;CH471063;D87073;NG_033099;NM_001105537;NR_073599;NR_073600;U09849;XM_006712730 AAC50265;BAA13242;EAW70630;EAW70631;EAW70632;EAW70633;NP_001099007;P52746;XP_006712793 Hs.657969 1670299;2114272;2147423;2162065 A007J36;D2S1297;G17323;RH65508 HA4654;pHZ-49 OTTHUMP00000206541;zinc finger protein 142 (clone pHZ-49) protein-coding ENSG00000115568 HGNC:12927 04967 604083 REVIEWED 1342677 ZNF146 zinc finger protein 146 ENCODES a protein that exhibits DNA binding (inferred); heparin binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleolus; INTERACTS WITH (S)-nicotine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 19 19 19 q13.1 33420667 33444866 + 36705504 36729676 + 36214602 36238774 + 1580863;6480464;8554872 10449921;11306801;12477932;12754738;15057824;15146197;15489334;15838871;15881673;16344560;18029348;21890473;22505724;23000965;23602568;24250222;8107129;8641144;8665923;9935176 7705 Q15072 ABBA01018783;AC012617;AI039686;AJ011806;AK311486;AK313460;AMYH02036002;AMYH02036003;BC005154;BC065568;BC110500;BC110501;CN409203;DA177508;DA395000;DA645504;DA806687;DB068031;DR155969;NM_001099638;NM_001099639;NM_007145;X70394;XM_005259214 AAI10501;AAI10502;CAA49844;CAB41967;NP_001093108;NP_001093109;NP_009076;Q15072;XP_005259271 Hs.643436 2144065;2177435 STS-X70394;WI-9312 MGC125660;MGC125661;OZF only zinc finger protein;zinc finger protein OZF protein-coding ENSG00000167635 HGNC:12931 03296 601505 VALIDATED 1313824 ZNF143 zinc finger protein 143 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN gene expression (inferred); regulation of transcription from RNA polymerase II promoter (inferred); regulation of transcription from RNA polymerase III promoter (inferred); FOUND IN nucleoplasm (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; copper(2+) sulfate 11 11 11 p15.4 9604193 9671660 + 9482512 9550071 + 9460965 9528524 + 1580863;6480464 11724783;12477932;14702349;15146197;15489334;17297437;17478512;17707600;17938208;18687992;20116366;20733350;20860770;21177654;21909943;22505724;23152058;23539139;24009065;24816145;7557990;7641696;9009278;9566884;9705341;9776743 7702 C9J2G7;C9JCG1;C9JRS3;C9JTC5;E7EN86;E9PJF2;E9PLN4;E9PLS7;E9PMY8;E9PPB0;E9PS81;H7C1P6;P52747 ABBA01061173;ABBA01061174;ABBA01061175;ABBA01061176;ABBA01061177;AC127030;AC132192;AF071771;AJ277546;AJ295844;AK291133;AK297214;AK313330;AMYH02024318;AMYH02024319;AMYH02024320;AMYH02024321;AW162015;BC014458;BC020219;BF515092;BG825506;CH471064;CN295530;KC877388;NM_001282656;NM_001282657;NM_003442;XM_005253121;XM_005253122;XM_005253126;XM_005253127 AAC96102;AAH20219;ABZ92446;BAF83822;BAG59697;CAC14172;CAC17610;EAW68589;NP_001269585;NP_001269586;NP_003433;P52747;XP_005253178;XP_005253179;XP_005253183;XP_005253184 Hs.523471 1662896;1670295;1699118;1760343;2149209;2155430;2183826 RH103135;RH45706;SHGC-141920;SHGC-36264;STS-AA007424;STS-H99156;STS-U09850 SBF;STAF;hStaf;pHZ-1 OTTHUMP00000195124;OTTHUMP00000195125;OTTHUMP00000195129;OTTHUMP00000231211;OTTHUMP00000231214;SPH-binding factor;selenocysteine tRNA gene transcription-activating factor;transcriptional activator Staf protein-coding ENSG00000166478 HGNC:12928 04578 603433 VALIDATED 1347937 ZNF150 zinc finger protein 150 (pHZ-66) 7708 HGNC:12935 1343254 ZNF158 zinc finger protein 158 (HZF23) 7713 HGNC:12943 1350528 ZNF159 zinc finger protein 159 (F11) 7714 HGNC:12944 1344228 ZNF157 zinc finger protein 157 This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. [provided by RefSeq, Jul 2008] X X X p11.2 51425250 51468358 + 47229999 47273098 + 47370600 47413699 + 1580863;6480464 11944989;12477932;15489334;15772651;18029348;20395239;8586441 7712 P51786 ABBA01052344;ABBA01052345;ABBA01052346;ABBA01052347;ABBA01052348;ABBA01052349;ABBA01052350;ABBA01052351;ABBA01052352;ABBA01052353;ABBA01052354;AL590223;AL591503;AMYH02039278;AMYH02039279;AMYH02039280;AMYH02039281;BC075003;CH471164;CO245585;NM_003446;U28687 AAA97578;AAH75003;ABZ92448;EAW59299;NP_003437;P51786 Hs.89897 2161345;5037552 D8S2279;STS-U28687 HZF22 OTTHUMP00000023210;zinc finger protein 22;zinc finger protein HZF22 APPROVED protein-coding HGNC:12942 02064 300024 REVIEWED 1352629 ZNF155 zinc finger protein 155 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH benzene; benzo[a]pyrene (ortholog); bis(2-chloroethyl) sulfide (ortholog) 19 19 19 q13.2-q13.32 41291854 41305968 + 44472014 44502477 + 43967862 43998325 + 1580863;6480464 12477932;12743021;14702039;15057824;15489334;16344560;17220478;18029348;7557990;8617494 7711 K7EJJ6;K7ELA0;K7ENV6;Q12901 ABBA01040872;AC006213;AC018725;AF187986;AK022875;AK297360;AK297384;AK314510;AMYH02036175;BC075050;BC075051;BC126377;BC130381;BQ893627;CH471126;DA111916;DA164828;DA504192;DC330742;DN994146;NM_001260486;NM_001260487;NM_001260488;NM_003445;NM_198089;U09852;U46188;U46190;XM_005259215 AAB03530;AAB03532;AAC50268;AAF04102;AAF18684;AAH75050;AAH75051;AAI26378;AAI30382;ABZ92447;BAB14287;BAG37110;BAG59807;BAG59825;EAW57238;EAW57239;EAW57240;NP_001247415;NP_001247416;NP_001247417;NP_003436;NP_932355;Q12901;XP_005259272 Hs.279567;Hs.502127 1696994;1769281;2118094 G31036;RH101969;STS-U46188 MGC161655;pHZ-96 KRAB A domain protein-coding ENSG00000204920 HGNC:12940 04969 604086 VALIDATED 1349269 ZNF154 zinc finger protein 154 This gene encodes a protein that belongs to the zinc finger Kruppel family of transcriptional regulators, whose members are thought to function in normal and abnormal cell growth and differentiation. Hypermethylation of this gene is associated with the recurrence of non muscle invasive bladder cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 19 19 19 q13.4 55255336 55264105 - 58208594 58220579 - 57697226 57709211 - 1580863;6480464;8554872 12477932;14702039;15146197;16344560;23056278;24149212;7557990 7710 Q13106 AB095924;ABBA01020804;AC003006;AC004017;AI949650;AK092261;AMYH02036519;BC152404;BC152426;BC152561;CH471135;CN280337;DB162039;NG_034060;NM_001085384;NR_110974;NR_110975;U20648;XM_006723364;XR_243957;XR_430210;XR_430211 AAC50257;AAI52405;AAI52427;AAI52562;AAI60120;BAC03839;BAC23100;EAW72526;EAW72527;NP_001078853;Q13106;XP_006723427 Hs.646378 1688259;1847540;2130260;5015961;5021369;5022651;5110117 19556ht2;D11S2921;D15S1477;L17796;RH18014;RH93698;SGC35348 MGC176628;MGC176661;pHZ-92 protein-coding HGNC:12939 07245 604085 REVIEWED 1342906 ZNF16 zinc finger protein 16 The protein encoded by this gene contains multiple tandem zinc finger motifs. The encoded protein is involved in the differentiation of erythroid and megakaryocytic cells. This gene is located in a cluster of related genes on chromosome 8 encoding zinc finger proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] 8 8 8 q24 142332253 142353324 - 146155744 146176274 - 144930358 144950888 - 1580863;6480464 11054286;12477932;14702039;15489334;16628192;19763908;20346131;21468593;21874239;21988832;2288909;24180487;7486829;8125298 7564 E9PNT9;E9PQV1;P17020 ABBA01005193;ABBA01005194;AF235103;AF244088;AK096815;AK127625;AK226016;AL834451;AMYH02019019;AMYH02019020;BC010996;CH471162;DQ117529;KC877385;NM_001029976;NM_006958;X52340;XM_005272341;XM_005272342 AAF75235;AAH10996;AAZ20773;BAG54536;CAA36566;CAD39111;EAW82027;EAW82028;NP_001025147;NP_008889;P17020;XP_005272398;XP_005272399 Hs.493225 1682209;2118574;2163838;2178784;5022576;5024035;5116670 D13S116;D1S1361;RH44407;SHGC-3212;STS-H17016;WI-21609;sY3122 HZF1;KOX9 OTTHUMP00000229088;OTTHUMP00000229089;OTTHUMP00000229090;zinc finger protein 16 (kox 9);zinc finger protein KOX9;zinc finger protein Kruppel type 9 APPROVED protein-coding ENSG00000170631 HGNC:12947 03163 601262 REVIEWED 1346697 ZNF164 zinc finger protein 164 7717 HGNC:12952 1351207 ZNF14 zinc finger protein 14 The protein encoded by this gene contains a zinc finger and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc finger proteins. [provided by RefSeq, Jul 2008] 19 19 19 p13.11 19725244 19749091 - 19821281 19843921 - 19710472 19733112 - 1580863;6480464 12477932;16341674;22505724;22797925;2288909;24250222;7649249;8262519 7561 P17017 AA286756;AB021644;ABBA01051339;AC011458;AC104523;AK074832;AMYH02035764;AV726241;AW675436;BC136323;BE392040;BM836276;CA414092;CD358782;CH471106;FB659866;NM_021030;X52337 AAI36324;BAA86990;CAA36563;CAS01787;EAW84858;NP_066358;P17017 Hs.659932 GIOT-4;KOX6 gonadotropin inducible transcription repressor-4;gonadotropin-inducible ovary transcription repressor 4;zinc finger protein 14 (KOX 6);zinc finger protein KOX6 APPROVED protein-coding ENSG00000105708 HGNC:12924 01933 194556 REVIEWED 1312178 ZNF169 zinc finger protein 169 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred) 9 9 9 q22.32 67463117 67506809 + 97021578 97065291 + 94259296 94303009 + 1580863 12477932;14702039;16344560;17567985;22344221;9071574;9186526;9722951 169841 Q14929;Q5SR55;Q6PJ92;Q7Z761;S4R440 ABBA01017674;ABBA01017675;AK093956;AK122832;AK289742;AL691447;AMYH02021254;AMYH02021255;BC011947;BC019228;BC035060;BC047702;BP873364;CH471089;DA490480;HY115642;NM_001301275;NM_003448;NM_194320;U28251;U28322 AAA70187;AAA70188;AAH11947;AAH19228;AAH35060;AAH47702;BAF82431;EAW62878;EAW62879;EAW62880;EAW62881;EAW62882;NP_001288204;NP_003439;NP_919301;Q14929 Hs.387623 1744725;2149475;2156407;2219764;5022578;5037552 D1S1423;D8S2279;GDB:555455;RH36567;U57808;ZNF169__4966 MGC51961 OTTHUMP00000161692 protein-coding HGNC:12957 04554 603404 VALIDATED 1343220 ZNF17 zinc finger protein 17 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 q13.4 54966237 54977016 + 57922529 57933307 + 57411161 57421939 + 6480464 11853319;14702039;15057824;16344560;17043677;2014798;2115127;2288909 7565 M0QZR3;M0R2T2;P17021 AB075827;ABBA01020809;AC003002;AK097123;AK098183;AK127948;AK128471;AMYH02036517;CH471135;DA476988;DA746547;NM_006959;X52341;XM_006723351;XM_006723352;XM_006723353 AAI52893;ABZ92248;BAB85533;BAC04956;BAC05252;BAG54604;BAG54682;CAA36567;EAW72500;NP_008890;P17021;XP_006723414;XP_006723415;XP_006723416 Hs.729403 2220032;5015861;7185938 D10S16;ZNF17__4967 FLJ40864;FLJ46058;FLJ46615;HPF3;KIAA1947;KOX10 zinc finger protein 17 (HPF3, KOX 10);zinc finger protein HPF3;zinc finger protein KOX10 protein-coding ENSG00000186272 HGNC:12958 18323 VALIDATED 1602451 ZNF160 zinc finger protein 160 The protein encoded by this gene is a Kruppel-related zinc finger protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription regulation. Three alternative transcripts encoding the same protein have been described. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 50617405 50654218 - 53569181 53606690 - 53065928 53103434 - 6480464;8554872 10997877;11214971;11410164;12477932;14702039;16344560;19846881;21139048;21988832;22505724;7774943;7865130 90338 M0QXU9;M0QZ49;M0QZI7;M0R285;Q9HCG1 AB046831;ABBA01068224;AC010328;AF027144;AF277623;AK024442;AK024789;AMYH02036417;BC000807;BC012054;BC094880;BF570224;BU430880;CH471135;CR749613;DA230397;DB078640;NM_001102603;NM_033288;NM_198893;X77744;X78928;XM_005259378;XM_005259379;XM_005259380;XM_006723461;XM_006723462 AAB84023;AAH00807;AAH94880;AAK61306;BAB13437;BAB15732;CAA55528;CAH18407;EAW72110;EAW72111;EAW72112;EAW72113;EAW72114;NP_001096073;NP_150630;NP_942596;Q9HCG1;XP_005259435;XP_005259436;XP_005259437;XP_006723524;XP_006723525 Hs.655967 1645120;1774669;5015881;5015961 D15S1477;GDB:335751;RH48199;STS-N30552 DKFZp686B16128;F11;FLJ00032;HKr18;HZF5;KIAA1611;KR18 KRAB zinc finger protein KR18;zinc finger protein 5;zinc finger protein HZF5;zinc finger protein Kr18 APPROVED protein-coding ENSG00000170949 HGNC:12948 11856 600398 REVIEWED 1343184 ZNF172 zinc finger protein 172 (clone 130) 7725 HGNC:12961 1353933 ZNF170 zinc finger protein 170 (clone 164) 7723 HGNC:12959 1346136 ZNF171 zinc finger protein 171 (clone 165) 7724 HGNC:12960 1351304 ZNF178 zinc finger protein 178 7731 HGNC:12967 1344072 ZNF176 zinc finger protein 176 7729 HGNC:12965 732332 ZNF148 zinc finger protein 148 ENCODES a protein that exhibits sequence-specific DNA binding; INVOLVED IN negative regulation of gene expression; negative regulation of transcription, DNA-templated; substantia nigra development; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; afimoxifene; all-trans-retinoic acid 3 3 3 q21 123353697 123503401 - 124944513 125094198 - 125225669 125375354 - 1580863;6480464;8554872 10359087;10727401;10899165;11416144;12393719;12477932;12759240;12771217;14712222;14963412;15175029;15302935;15489334;16344560;16384873;16517939;16825291;16827139;16964243;17019648;17560543;17663720;17940278;18029348;18250154;18496767;18854154;19275880;19322201;19362768;19471022;19583777;19875459;20379614;21139048;21693764;21828133;21890473;22111549;22214764;22372401;22939629;22982674;23000965;23314748;23576061;23954442;24654937;7557990;8355710;8943318;9144414;9457682;9685330;9925940 7707 C9J6Y6;C9JRX0;C9K0U4;G5E9X2;Q9UQR1 AA481164;ABBA01016422;ABBA01016423;ABBA01016424;ABBA01016425;AC108688;AF039019;AF432210;AJ236885;AK314203;AL833616;AMYH02007573;AMYH02007574;BC016316;BC018971;BC035591;BC050260;BC128582;BQ441085;CH471052;DA492993;DA726996;DN994032;DQ090088;L04282;NM_021964;U09851;U96633 AAA36664;AAB57692;AAC39926;AAC50267;AAH18971;AAH35591;AAH50260;AAL99917;AAY99631;BAG36879;CAA15422;EAW79394;EAW79395;EAW79396;EAW79397;EAW79398;NP_068799;Q9UQR1 Hs.592591 1662516;1682167;1729107;1739045;1774577;1797060;2127165;2147696;2173256;5017791 D3S3244;D3S3351;D3S3396;RH93652;STS-L04282;UniSTS:144823;WI-16965;WI-17698;ZNF148;ZNF148_1124 BERF-1;BFCOL1;DKFZp686L18248;HT-BETA;ZBP-89;ZFP148;pHZ-52 CACCC box-binding protein;CLL-associated antigen KW-10;OTTHUMP00000215374;OTTHUMP00000215375;OTTHUMP00000215395;OTTHUMP00000215396;transcription factor ZBP-89;zinc finger DNA-binding protein 89 protein-coding ENSG00000163848 HGNC:12933 03540 601897 VALIDATED 1322583 ZNF174 zinc finger protein 174 ENCODES a protein that exhibits protein homodimerization activity; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-templated; FOUND IN actin cytoskeleton; cytoplasm; nucleus; INTERACTS WITH copper(2+) sulfate; hydrogen peroxide; mercury atom 16 16 16 p13.3 3657974 3666144 + 3451190 3459364 + 3401190 3409364 + 1580863;6480464 10567577;11741982;12477932;15489334;15592455;15629724;16344560;17000644;17207965;18029348;18472161;20211142;22094256;24250222;7673192;8889548 7727 I3L2H2;Q15697 ABBA01026740;AC025283;AF542096;AMYH02031290;BC000876;BC001161;BI918471;BM969505;BT006923;CH471112;DA962432;NM_001032292;NM_003450;U31248 AAB04897;AAH00876;AAH01161;AAN40766;AAP35569;ADQ31653;EAW85368;NP_001027463;NP_003441;Q15697 Hs.155204 1690718;2112904;2121814;2125788;2143442 D16S2636;D16S3379;RH70598;RH91708;STS-U31248 AW-1;ZSCAN8 OTTHUMP00000159720;zinc finger and SCAN domain-containing protein 8 protein-coding ENSG00000103343 HGNC:12963 04876 603900 VALIDATED 1346277 ZNF175 zinc finger protein 175 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN defense response to virus (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm; intermediate filament cytoskeleton; nucleus; INTERACTS WITH atrazine; ethyl methanesulfonate; methotrexate 19 19 19 q13.4 49125591 49144051 + 52074531 52092991 + 51571278 51589738 + 1580863;6480464 12477932;12574502;14688346;15057824;15081264;15489334;1602151;17170456;18029348;18773297;18776638;19034669;19034670;19247725;20211142;20379614;20936779;21988832;22491018;22505724;24250222;8838321 7728 F5GZI7;G3V1K8;M0R013;Q9Y473 ABBA01068268;ABBA01068269;AC018755;AC020914;AI221738;AK292687;AMYH02036384;AMYH02036385;BC007778;BC052997;BX474148;CH471135;CQ840917;D50419;FB353527;NM_007147;XM_005259216;XM_005259217;XM_005259218 AAF87843;AAH52997;BAA23362;BAF85376;CAH05700;CAR82349;EAW72029;EAW72030;NP_009078;Q9Y473;XP_005259273;XP_005259274;XP_005259275 Hs.119014 1645974;1749049;2167810;2184228;2220028 G31547;RH12308;SHGC-110678;SHGC-32377;ZNF175__4968 OTK18 OTTHUMP00000236810;OTTHUMP00000236811;zinc finger protein OTK18 protein-coding HGNC:12964 03088 601139 VALIDATED 1312982 ZNF18 zinc finger protein 18 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; hydralazine; valproic acid 17 17 17 p11.2 11911329 11931257 - 11880756 11901736 - 11977439 11997510 - 6480464;8554872 12477932;14702039;15489334;15702252;16120570;18029348;2014798;22505724;2288909 7566 J3KS42;J3KSA1;J3KSC1;J3KTA0;P17022;Q96LU8 ABBA01054999;AC005410;AK057783;AK092656;AK127908;AMYH02032996;AMYH02032997;AY491053;BC036096;CH471108;NM_144680;X52342;XM_005256786;XM_005256791 AAH36096;AAS67595;ABZ92437;BAB71570;BAC03939;BAG54597;CAA36568;EAW89977;NP_653281;P17022;XP_005256843;XP_005256848 Hs.370473 1688480;2154499 RH93553;SHGC-64924 HDSG1;KOX11;ZKSCAN6;ZNF535;ZSCAN38;Zfp535 heart development-specific gene 1 protein;heart development-specific protein;zinc finger protein 18 (KOX 11);zinc finger protein 535;zinc finger protein KOX11;zinc finger protein with KRAB and SCAN domains 6 protein-coding ENSG00000154957 HGNC:12969 01913 194524 PROVISIONAL 1347344 ZNF182L zinc finger protein 182-like (HHZ150) 7736 HGNC:12973 1350016 ZNF181 zinc finger protein 181 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2003] 19 19 19 q13.11 31937872 31946166 + 35225103 35233774 + 34733314 34742869 + 6480464;8554872 12477932;15489334;22505724;8914611 339318 B4DM69;F8W889;M0R074;M0R1Q2;M0R361;Q2M3W8 ABBA01018726;AC020910;AI800428;AK295492;AK297316;AMYH02035967;BC043228;BC104759;BC143441;BC143442;DC299701;DC304794;NM_001029997;NM_001145665;XM_005258849;XM_005258850;XM_005258851;XM_006723183;XM_006723184 AAH43228;AAI04760;AAI43443;BAG58413;BAG59781;NP_001025168;NP_001139137;Q2M3W8;XP_005258906;XP_005258907;XP_005258908;XP_006723246;XP_006723247 Hs.720472 1697894;2126572;2220034;5016334 D19S963;RH102475;SHGC-56626;ZNF181__4972 HHZ181;MGC44316 OTTHUMP00000212232;OTTHUMP00000212233;OTTHUMP00000212234;zinc finger protein 181 (hhz181) APPROVED protein-coding ENSG00000197841 HGNC:12971 18783 606741 VALIDATED 1348239 ZNF180 zinc finger protein 180 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002] 19 19 19 q13.2 41783864 41808558 - 44978645 45004574 - 44474428 44500523 - 1580863;6480464;8554872 12477932;12743021;14702039;15057824;15342556;16344560;18957941;24250222;8914611 7733 G5E9B8;K7EMI5;K7EN00;K7EQP0;K7ES30;Q9UJW8 AA835661;ABBA01040878;AC069278;AC245748;AF192913;AI472318;AK024047;AK122688;AK315193;AU132370;BC033642;BC051903;BC113015;BP238630;CH471126;DA442282;DA947036;DB065087;DB223974;DB496139;DC358291;HG510856;NM_001278508;NM_001278509;NM_001288759;NM_001288760;NM_001288761;NM_001288762;NM_001291633;NM_013256 AAF07950;AAF71790;AAH33642;AAI13016;ABZ92257;BAG37633;BAG53668;EAW57274;EAW57275;EAW57276;EAW57277;EAW57278;EAW57279;NP_001265437;NP_001265438;NP_001275688;NP_001275689;NP_001275690;NP_001275691;NP_001278562;NP_037388;Q9UJW8 Hs.22305;Hs.720205;Hs.737614 AC069278.4;HHZ168 APPROVED protein-coding HGNC:12970 08414 606740 VALIDATED 1342847 ZNF165 zinc finger protein 165 This gene encodes a member of the Kruppel family of zinc finger proteins. Members of this DNA-binding protein family act as transcriptional regulators. This gene is located within a cluster of zinc finger family members. The encoded protein may play a role in spermatogenesis. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 29654543 29663402 + 28048482 28057341 + 28080704 28089563 + 1580863;6480464 10567577;11076058;12477932;14574404;15489334;16189514;23455924;7490084;8673473;9244436 7718 P49910;Q53Z40 ABBA01038015;AK292371;AL121944;AL546097;AL583605;AMYH02013391;AY083664;AY366500;BC026092;BC037779;CH471081;NM_003447;U78722;U88083;U88084;U88085;U88086;X84801;XM_005249371;XM_005249372;XM_005249373;XM_006715179 AAC51658;AAD04755;AAH26092;AAH37779;AAM08933;AAQ73196;ABZ92449;BAF85060;CAA59268;EAX03131;NP_003438;P49910;XP_005249428;XP_005249429;XP_005249430;XP_006715242 Hs.55481 1645340;2110071;2146574 D6S2308;RH66807;ZNF165_8747 CT53;LD65;ZSCAN7 OTTHUMP00000016195;cancer/testis antigen 53;zinc finger and SCAN domain-containing protein 7 APPROVED protein-coding ENSG00000197279 HGNC:12953 02903 600834 REVIEWED 1342789 ZNF182 zinc finger protein 182 Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2010] X X X p11.23 52029773 52058920 - 47834250 47863394 - 47974851 48003995 - 1580863;6480464 12477932;14702039;15146197;15489334;18187620;2014798;2288909;24250222;8088786;8914609 7569 P17025 ABBA01052421;ABBA01052422;ABBA01052423;ABBA01052424;ABBA01052425;ABBA01052426;AC244636;AK097687;AK122874;AK130362;AK299325;AMYH02039291;AW291763;BC106875;BC114216;BX537686;BX648401;CD642892;CH471164;CN311292;DC377274;NG_021254;NM_001007088;NM_001178099;NM_006962;X52345;Z98304 AAI06876;AAI14217;ABZ92249;BAG53772;BAG61332;CAA36571;EAW59334;EAW59335;EAW59336;NP_001007089;NP_001171570;NP_008893;P17025 Hs.189690 HHZ150;KOX14;MGC125383;MGC131713;ZNF21;Zfp182 OTTHUMP00000023233;OTTHUMP00000179115;zinc finger protein 21 (KOX 14);zinc finger protein KOX14 APPROVED protein-coding ENSG00000147118 HGNC:13001 11781 314993 REVIEWED 1344066 ZNF187P1 zinc finger protein 187 pseudogene 1 387050 HGNC:13988 1312451 ZNF184 zinc finger protein 184 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 6 6 6 p21.3 29024557 29046939 - 27418521 27440897 - 27450742 27473118 - 1580863;6480464;8554872 12477932;14702039;16344560;18029348;19571809;20211142;21988832;22505724;8889548;9073517 7738 Q6ZND3;Q99676 ABBA01037994;ABBA01037995;AK123011;AK131264;AK312804;AL021918;AL031118;AMYH02013382;BC022992;BM675205;CH471081;DB090589;NM_007149;U66561;XM_005249379;XM_005249380;XM_006715181 AAC51180;AAH22992;ABZ92258;ADZ16034;BAD18442;BAG35662;EAX03099;EAX03100;NP_009080;Q99676;XP_005249436;XP_005249437;XP_006715244 Hs.158174 2110073;2121602;2148827 RH15852;RH37566;ZNF184_8749 OTTHUMP00000016181;zinc finger protein 184 (Kruppel-like) protein-coding ENSG00000096654 HGNC:12975 03785 602277 VALIDATED 1348960 ZNF188 zinc finger protein 188 7742 HGNC:12979 1352809 ZNF185 zinc finger protein 185 (LIM domain) Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a LIM-domain zinc finger protein. The LIM domain is composed of two contiguous zinc finger domains, separated by a two-amino acid residue hydrophobic linker. The LIM domain mediates protein:protein interactions. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010] X X X q28 152417145 152476190 + 152066671 152142025 + 152898127 152973481 + 1580863;6480464 10854409;12873976;14702039;15731117;16344560;16799630;18029348;21139048;21145461;21890473;23000965;24816145;9268636 7739 B3KPM4;H0Y704;H7BZT5;H7C1R1;J3KNL4;O15231 ABBA01043675;ABBA01043676;ABBA01043677;ABBA01043678;ABBA01043679;ABBA01043680;ABBA01043681;AK056517;AK095258;AK296967;AK301530;AK304323;AMYH02040791;AY997296;BQ923456;BX537525;BX640940;CH471172;DA882423;DC305824;DC347990;DQ508022;DQ508023;DQ508024;DQ508025;DQ508026;KC877986;KF459497;KF459499;KF459500;NG_021255;NM_001178106;NM_001178107;NM_001178108;NM_001178109;NM_001178110;NM_001178113;NM_001178115;NM_007150;U82671;XM_005274730;XM_005274731;XM_005274732;XM_005274733;XM_005274734;XM_005274735;XM_005274736;XM_005274737;XM_005274738;XM_005274739;XM_005274740;XM_005274741;XM_005274742;XM_005274744;XM_005274745;XM_005274746;XM_006724843;XM_006724844;Y09538 AAI67865;AAY54245;ABF57657;ABF57658;ABF57659;ABF57660;ABF57661;BAC04511;BAG51736;BAG59511;BAG65173;BAH13507;CAA70733;CAD97773;CAE45970;EAW72893;EAW72894;EAW72895;EAW72896;NP_001171577;NP_001171578;NP_001171579;NP_001171580;NP_001171581;NP_001171584;NP_001171586;NP_009081;O15231;XP_005274787;XP_005274788;XP_005274789;XP_005274790;XP_005274791;XP_005274792;XP_005274793;XP_005274794;XP_005274795;XP_005274796;XP_005274797;XP_005274798;XP_005274799;XP_005274801;XP_005274802;XP_005274803;XP_006724906;XP_006724907 Hs.16622 1694336;1847047;2108661;2143006 A004F02;G42863;SHGC-17233;ZNF185_8750 P1-A OTTHUMP00000025904;OTTHUMP00000025907;OTTHUMP00000025909;OTTHUMP00000226014;zinc finger protein 185 APPROVED protein-coding ENSG00000147394 HGNC:12976 02306 300381 REVIEWED 1353253 ZNF177 zinc finger protein 177 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN blood microparticle; INTERACTS WITH 5-aza-2'-deoxycytidine; cyclosporin A; formaldehyde 19 19 19 p13.2 9330466 9388754 + 9473696 9493293 + 9363020 9382617 + 1580863;6480464 11549323;12477932;15342556;15489334;16344560;21988832;8661005 7730 K7EK36;K7EQU1;Q13360 ABBA01029978;AC011451;AK302274;AMYH02035466;BC012012;BP260204;BX114567;CH471106;DA338574;DA494894;NM_001172651;NM_003451;U37263 AAB09749;AAH12012;ABZ92255;BAG63619;EAW84031;NP_001166122;NP_003442;Q13360 Hs.728944 1671360;1750577;1855462;1855464;2162836;2220030 HSC11G032;SHGC-111881;SHGC-30311;SHGC-31653;WI-14794;ZNF177__4969 PIGX protein-coding ENSG00000188629;ENSG00000270011 HGNC:12966 03175 601276 VALIDATED 1347253 ZNF192P1 zinc finger protein 192 pseudogene 1 INTERACTS WITH 17beta-estradiol 6 6 6 p22.1 29735613 29743439 + 28129539 28137373 + 28161761 28169595 + 6480464 16344560;23449627;8889549 651302 ABBA01038015;AK311106;AL022393;AL358933;AMYH02013391;BF475295;CH471081;DB298810;DN994493;HY011556;NR_103448;W78742 EAX03137 Hs.172143 1651231 SHGC-57708 FLJ18148;ZNF389;ZNF389P;dJ265C24.4 zinc finger protein 389 APPROVED pseudo ENSG00000226314 HGNC:18777 VALIDATED 5490507 ZNF192P2 zinc finger protein 192 pseudogene 2 6 6 6 p22.1 29762534 29764007 + 28155716 28157189 + 28187938 28189411 + 222701 ABBA01038015;AL022393;AMYH02013392;NG_006136 1695386 SHGC-68482 pseudo HGNC:42862 INFERRED 1350446 ZNF194 zinc finger protein 194 7747 HGNC:12985 1349877 ZNF19 zinc finger protein 19 The protein encoded by this gene contains a zinc finger, a nucleic acid-binding domain present in many transcription factors. This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16. [provided by RefSeq, Jul 2008] 16 16 16 q22 55823828 55839105 - 71507976 71598992 - 71474073 71489351 - 1580863;6480464 12477932;14702039;1505991;15489334;16344560;17207965;1946370;2288909;7557990;8889548 7567 H3BMU5;H3BNH9;H3BNI0;H3BQ26;H3BQI6;H3BR98;J3KRI7;J3KSN3;J3KT56;P17023 ABBA01016777;AC010547;AK055567;AK057330;AK292260;AK311003;AL834237;AMYH02032315;BC047091;BM981699;CH471166;DB079697;M77171;NM_006961;X52343 AAA36814;AAH47091;ADQ32955;BAB70957;BAB71430;BAF84949;CAA36569;CAD38915;EAW59232;NP_008892;P17023 Hs.660076 1699404;1777973;2218888;5015619 D11S3114;RH103293;SHGC-64927;ZNF19__4974 KOX12;MGC51021 OTTHUMP00000174927;zinc finger protein 19 (KOX 12);zinc finger protein KOX12 APPROVED protein-coding ENSG00000157429 HGNC:12981 01914 194525 REVIEWED 1315167 ZNF189 zinc finger protein 189 Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010] 9 9 9 q22-q31 74674768 74686547 + 104161136 104172942 + 101398854 101410660 + 1580863;6480464 10415338;12477932;15164053;15489334;16341674;16344560;16712791;20634891;22505724;23503679;8889548;9653648 7743 B7ZLK9;O75820 ABBA01042874;AF025770;AF025771;AF025772;AK290163;AK308935;AK313655;AL046790;AL353621;AMYH02021354;BC065718;BC092425;BC126120;BC143876;BC143877;BM820380;BM996467;BX420042;BX497070;BX497641;CB162392;CB851970;CD518756;CH471105;DB077406;NM_001278231;NM_001278232;NM_001278240;NM_003452;NM_197977;NR_103480;U75454;U95991;U95992;XM_006717280;XM_006717281 AAC25909;AAC25910;AAC39798;AAC39799;AAC39800;AAD50527;AAD50528;AAH92425;AAI26121;AAI43877;AAI43878;BAF82852;BAG36409;EAW58949;EAW58950;NP_001265160;NP_001265161;NP_001265169;NP_003443;NP_932094;O75820;XP_006717343;XP_006717344 Hs.50123 1650833;1675597 D9S950;RH94369 OTTHUMP00000021808;OTTHUMP00000021809;OTTHUMP00000021810 APPROVED protein-coding ENSG00000136870 HGNC:12980 11930 603132 VALIDATED 1350640 ZNF196 zinc finger protein 196 7749 HGNC:12987 6481303 ZNF197-AS1 ZNF197 antisense RNA 1 p21.31 100874094 AC099669;BF242569;NR_046658 APPROVED ncrna HGNC:40620 VALIDATED 1348645 ZNF199 zinc finger protein 199 7751 HGNC:12990 1353796 ZNF197 zinc finger protein 197 This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein contains 20 tandemly arrayed C2H2-type zinc fingers, a Kruppel-associated box (KRAB) domain, and a SCAN box. This transcript turns over rapidly and contains 3' UTR AUUUA motifs, which are often a hallmark of rapid turnover. It is overexpressed in some thyroid papillary carcinomas. This gene is located in a cluster of zinc finger genes at 3p21. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 3 3 3 p21 44604505 44627956 + 44666511 44689963 + 44625019 44648471 + 1580863;6480464;8554872 12477932;12682018;17043677;22505724;7814019;8353497;9380504 10168 C9JQH5;F8WEU5;O14709;Q7Z6G1 ABBA01024739;AC099669;AF011573;AK314196;AL117657;AMYH02006649;AY074878;AY261677;AY279353;BC017584;BC031209;CH471055;L32163;NM_001024855;NM_006991;XM_005264783;XM_006712915;Z21707 AAA36817;AAB84385;AAH17584;AAI67827;AAL79677;AAP57399;AAQ62850;BAG36875;CAA79814;EAW64714;NP_001020026;NP_008922;O14709;XP_005264840;XP_006712978 Hs.157035 1669106;1848021;2130634;2184922;5014011;5020274 D3S1363;L18441;RH71310;SHGC-35297;SHGC-76875;STS-L32163 D3S1363E;P18;VHLaK;ZKSCAN9;ZNF166;ZNF20;ZSCAN41 OTTHUMP00000164119;OTTHUMP00000209715;OTTHUMP00000209717;OTTHUMP00000209718;VHL-associated KRAB-A domain-containing protein;pVHL-associated KRAB domain-containing protein;zinc finger protein 166;zinc finger protein 20;zinc finger protein with KRAB and SCAN domains 9 APPROVED protein-coding ENSG00000186448 HGNC:12988 10322 REVIEWED 1320138 ZNF2 zinc finger protein 2 The protein encoded by this gene belongs to the C2H2-type zinc-finger protein family. The exact function of this gene is not known, however, zinc-finger proteins are known to interact with DNA and function as transcription regulators. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014] 2 2 2 q11.2 90182375 90201252 + 95831165 95850065 + 95165417 95184317 + 1580863;6480464 10575230;12477932;14702039;15489334;15815621;16101389;16344560;1945843;21832049;23455924;24250222;8183940;8986806 7549 B0AZN8;B4DR15;Q68CY6;Q9BSG1 ABBA01003571;AC092835;AI631860;AK055072;AK290798;AK295739;AK299058;AK315762;AK315829;AMYH02004298;AV726545;BC005068;BC009976;CH471219;CR749650;DA497792;DA793506;KF459620;NG_033798;NM_001017396;NM_001282398;NM_001291604;NM_001291605;NM_021088;X60152;X60154 AAH05068;AAH09976;AAX88982;BAF83487;BAF98720;BAG38115;BAG58576;BAG61127;CAB52138;CAH18444;EAX10715;EAX10716;NP_001017396;NP_001269327;NP_001278533;NP_001278534;NP_066574;Q9BSG1 Hs.590916 2107781;5014051;5015619;5037552 D11S3114;D8S2278;D8S2279;ZNF2_7905 A1-5;ZNF661;Zfp661 OTTHUMP00000207346;OTTHUMP00000207347;OTTHUMP00000207348;OTTHUMP00000207350;zinc finger protein 2 (a1-5);zinc finger protein 2.2;zinc finger protein 661 protein-coding ENSG00000275111 HGNC:12991 11834 194500 REVIEWED 1352529 ZNF195 zinc finger protein 195 This gene encodes a protein belonging to the Krueppel C2H2-type zinc-finger protein family. These family members are transcription factors that are implicated in a variety of cellular processes. This gene is located near the centromeric border of chromosome 11p15.5, next to an imprinted domain that is associated with maternal-specific loss of heterozygosity in Wilms' tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 11 11 11 p15.5 3369603 3390049 - 3379157 3400452 - 3357927 3379222 - 1580863;6480464;8554872 10369881;12477932;14702039;1602151;16344560;20211142;20562864;21139048;21890473;22505724;7959730;9344677;9778121 7748 C9JG37;E9PIN4;E9PIT0;E9PIY8;E9PLF5;E9PLW9;E9PMX5;E9PNM0;E9PPF8;E9PSE6;H0YDV1;O14628 AB209664;ABBA01032064;ABBA01032065;AC123788;AF003540;AF028728;AK095720;AK131296;AK290099;AK293679;AK308024;AK308068;AK308209;AL833722;AMYH02024222;AMYH02024223;BC121028;BC121029;BM462194;CH471158;CX867141;DA170927;DA618142;DA713258;DA765121;DA984929;DB294374;NG_032109;NM_001130519;NM_001130520;NM_001242841;NM_001242842;NM_001242843;NM_001256823;NM_001256824;NM_001256825;NM_007152;NR_040083;NR_046381;NR_046382;XM_006718306;XM_006718307 AAB86596;AAI21029;AAI21030;BAD18466;BAD92901;BAF82788;BAG53114;BAG57121;CAH56261;EAX02548;EAX02549;NP_001123991;NP_001123992;NP_001229770;NP_001229771;NP_001229772;NP_001243752;NP_001243753;NP_001243754;NP_009083;O14628;XP_006718369;XP_006718370 Hs.386294 1650216;2111950;2151441;2220626;5014051;5022578;5022651;5037552;5127439 D11S2921;D11S4731;D1S1423;D8S2278;D8S2279;G06188;SHGC-32486;UniSTS:486333;WI-22146 DKFZp666D035;HRF1;ZNFP104 OTTHUMP00000013400;OTTHUMP00000013401;OTTHUMP00000013402;OTTHUMP00000013403;OTTHUMP00000234234;OTTHUMP00000234235;OTTHUMP00000234236;OTTHUMP00000234237;OTTHUMP00000234238;OTTHUMP00000234239;OTTHUMP00000234240;OTTHUMP00000234242;OTTHUMP00000234254;OTTHUMP00000234259;OTTHUMP00000234386;hypoxia-regulated factor-1;krueppel family zinc finger protein (znfp104) APPROVED protein-coding ENSG00000005801 HGNC:12986 03718 602187 REVIEWED 1349406 ZNF20 zinc finger protein 20 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH formaldehyde; trichostatin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.2 12137188 12145525 - 12242165 12251222 - 12131350 12140407 - 1580863;6480464 10567577;12477932;12697996;14702039;16169070;16344560;22505724;2288909;8262519 7568 C9JIP4;F8WDZ5;M0QYR3;P17024 ABBA01029806;AC022415;AK023094;AL080125;AMYH02035545;AU152520;BC036714;BC045814;BM142273;CH471106;DB034821;DB057678;NM_001203250;NM_021143;X52344 AAH36714;AAH45814;BAB14401;CAA36570;CAB45723;EAW84260;NP_001190179;NP_066966;P17024 Hs.512823 1773004 D1S3038 FLJ39241;KOX13 OTTHUMP00000209846;OTTHUMP00000209847;zinc finger protein 20 (kox 13);zinc finger protein KOX13 protein-coding ENSG00000132010 HGNC:12992 194557 VALIDATED 1349966 ZNF200 zinc finger protein 200 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (S)-colchicine; adenine; atrazine 16 16 16 p13.3 3477989 3491117 - 3272325 3286221 - 3222325 3236221 - 1580863;6480464 12477932;14702039;16344560;17584299;19322201;19850743;20211142;20467438;21988832;8401585;9288094;9653642;9787081 7752 B3KP91;I3L1E4;P98182 AA338573;AB209219;ABBA01026735;AF060866;AJ003147;AK056010;AK315036;AMYH02031286;BC012909;BC025293;BC032575;BC054005;BI459882;BI822625;BU177850;CD697565;CH471112;DA757518;DB031650;KF456146;NM_001145446;NM_001145447;NM_001145448;NM_003454;NM_198087;NM_198088;XM_005255556;XM_006720940;XM_006720941;Y14443 AAC70008;AAH12909;AAH25293;AAH32575;AAH54005;ABZ92259;BAD92456;BAG51603;CAA05905;CAA74795;EAW85384;EAW85385;EAW85386;EAW85387;EAW85388;EAW85389;NP_001138918;NP_001138919;NP_001138920;NP_003445;NP_932353;NP_932354;P98182;XP_005255613;XP_006721003;XP_006721004 Hs.632222 1668124;2155557;5016478;5016596;5037552 D8S2279;GDB:434012;GDB:631802;SHGC-60185;SHGC-7172 MGC45293 OTTHUMP00000159656;OTTHUMP00000159657;OTTHUMP00000159658 protein-coding ENSG00000010539 HGNC:12993 04452 603231 VALIDATED 1347057 ZNF204P zinc finger protein 204, pseudogene This locus represents a transcribed pseudogene, possibly of ZNF79 (GeneID 7633). The protein encoded by this locus would have significant N-terminal truncation, and would lack the KRAB domain and the C2H2 type zinc finger domain, compared to ZNF79. [provided by RefSeq, Jun 2011] 6 6 6 p21.3 28931614 28949176 - 27325602 27343153 - 27357823 27375374 - 6480464 12477932;16344560;9628832 7754 Q5DTE4 ABBA01037994;AF033199;AK296042;AL021808;AL031118;AL833520;AMYH02013382;BC067282;BU173489;CD511209;CH471081;DA147897;DB031764;DB063011;NR_002722;NR_024553 BAG58806;CAI56717;EAX03093 Hs.8198 1650634;2136825;2137800;2157148;2161034;5037552;7183251 D6S1852;D6S2329;D6S2330;D8S2279;RH63711;U80586 ZNF184-Lp;ZNF204;ZNF315P;b24o18.1 APPROVED pseudo HGNC:12995 603282 VALIDATED 1353784 ZNF202 zinc finger protein 202 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN lipid metabolic process (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (S)-colchicine; 17beta-estradiol; adenine 11 11 11 q24 120754388 120771754 - 123594997 123612383 - 123724289 123741675 - 1580863;6480464 10508479;10747874;10748193;11279031;12444922;12477932;14702039;15489334;16189514;16289551;16415175;16467280;18472161;18523156;18652945;19336475;19875103;19913121;20211142;20628086;21988832;22944692;9790754 7753 E9PJL4;E9PM99;O95125 ABBA01031269;AF027218;AF027219;AF155101;AJ276177;AK023751;AK226047;AL162031;AMYH02025719;AP000868;BC013382;BC113104;CH471065;DA770117;DQ093962;H89560;H89561;HY056142;NM_001301779;NM_001301780;NM_001301819;NM_003455;XM_005271659;XM_005271660;XM_005271661;XM_005271662;XM_005271663;XM_005271664;XM_006718900;XM_006718901;XM_006718902 AAC79940;AAC79941;AAD42867;AAH13382;AAY88738;ADZ15352;BAG51223;CAB82384;CAC21447;EAW67553;EAW67554;NP_001288708;NP_001288709;NP_001288748;NP_003446;O95125;XP_005271716;XP_005271717;XP_005271718;XP_005271719;XP_005271720;XP_005271721;XP_006718963;XP_006718964;XP_006718965 Hs.112556 1658366;1660072;1677070;1756039;2138113;2147328;2149623 D11S4600;RH64948;SGC35198;SHGC-12982;SHGC-142850;STS-AA010085;WI-22370 ZKSCAN10;ZSCAN42 OTTHUMP00000231692;OTTHUMP00000231693;OTTHUMP00000231694;zinc finger protein with KRAB and SCAN domains 10 protein-coding ENSG00000166261 HGNC:12994 04577 603430 VALIDATED 1312095 ZNF205 zinc finger protein 205 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; positive regulation of hydrogen peroxide biosynthetic process; positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH amiodarone; C60 fullerene (ortholog); cadmium dichloride (ortholog) 16 16 16 p13.3 3368041 3375998 + 3162563 3170528 + 3112562 3120527 + 1580863;6480464 12477932;15489334;16189514;16712791;16713569;18029348;19460752;20231359;21900206;22306510;9787081 7755 C9JEY6;C9JS60;I0J0A3;I3L417;O95201 AB672633;ABBA01026727;AC108134;AF060865;AK313009;AMYH02031281;AMYH02031282;BC002810;BI826058;BM924902;CB152017;CH471112;HY135124;NM_001042428;NM_001278158;NM_003456;XM_005255558 AAC70007;AAH02810;ADZ15429;BAG35845;BAM10952;EAW85396;EAW85397;EAW85398;EAW85399;EAW85400;EAW85401;NP_001035893;NP_001265087;NP_003447;O95201;XP_005255615 Hs.592088 1715037;2112894;2165570 D16S3368;RH119820;STS-W93354 RhitH;ZNF210;Zfp13 OTTHUMP00000192908;OTTHUMP00000192909;OTTHUMP00000192911;transcriptional repressor RhitH;zinc finger protein 210 protein-coding ENSG00000122386 HGNC:12996 04580 603436 VALIDATED 1350011 ZNF208 zinc finger protein 208 Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 2009] 19 19 19 p12 21981202 22026003 - 22148897 22193745 - 21966095 22010943 - 1580863;6480464;8554872 12477932;14702039;15057824;15469996;21890473;22505724;8467795;9724325 7757 M0QXL7;M0QYK4;M0R1F2;M0R293;M0R370;O43345 ABBA01051399;AC003973;AK096236;AMYH02035818;AMYH02035819;BC038199;CB997649;CH471106;NM_007153 AAB94784;EAW84911;EAW84912;EAW84913;NP_009084;O43345 Hs.732975 1783788;1851256;5016865;5113020 D17S1691;RH39204;RH80873;SHGC-112428 PMIDP;ZNF95 zinc finger protein 91-like;zinc finger protein 95 APPROVED protein-coding HGNC:12999 05998 603977 PROVISIONAL 1317710 ZNF207 zinc finger protein 207 ENCODES a protein that exhibits microtubule binding; poly(A) RNA binding; INVOLVED IN attachment of spindle microtubules to kinetochore; mitotic sister chromatid segregation; mitotic spindle assembly checkpoint; FOUND IN kinetochore; nucleus; INTERACTS WITH (-)-demecolcine; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 17 17 17 q11.2 27587373 27607677 + 30677071 30697468 + 32350138 32370449 + 1580863;6480464 12477932;12840049;15146197;15489334;15576338;15635413;16055720;17332742;18029348;19615732;20467438;21139048;21906983;21988832;22365833;22939629;24163370;9799612 7756 H0Y3M2;J3KRB6;J3KRW6;J3KS31;J3KTL1;J3QRS9;J3QS27;O43670;X6R4W8 AB209215;ABBA01000712;ABBA01000713;AC005899;AC026620;AC090616;AC116407;AF046001;AI308956;AK226172;AK291801;AK298950;AK309979;AL834501;AMYH02033315;AMYH02033316;BC000962;BC002372;BC008023;BT007365;CH471147;CN276833;NM_001032293;NM_001098507;NM_003457;XM_005258028;XM_005258029;XM_005258030 AAC78561;AAH02372;AAH08023;AAP36029;ADZ15328;BAD92452;BAF84490;BAG61049;CAD39159;EAW80231;EAW80232;EAW80233;EAW80234;EAW80235;EAW80236;EAW80237;NP_001027464;NP_001091977;NP_003448;O43670;XP_005258085;XP_005258086;XP_005258087 Hs.500775 1687475;1691186;1699714;1701474;1734468;1736672;1736698;1740151;5017679;5037552;5491545;5492003 D17S1432E;D17S1500E;D17S1516E;D17S1782;D8S2279;MARC_17513-17514:1016473117:1;RH103462;RH104369;RH48308;RH75233;ZNF207;ZNF207-1 BuGZ;DKFZp761N202 BUB3-interacting and GLEBS motif-containing protein ZNF207;OTTHUMP00000163700;OTTHUMP00000163701;OTTHUMP00000163702 protein-coding ENSG00000010244 HGNC:12998 04576 603428 VALIDATED 1351945 ZNF211 zinc finger protein 211 This gene encodes a protein containing a Kruppel-associated box domain and multiple zinc finger domains. This protein may play a role in developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 19 19 19 q13.4 55188111 55197720 + 58144535 58155409 + 57633167 57642779 + 1580863;6480464 12477932;16344560;17043677;7633419;9096115 10520 F5GY70;F5H771;H0Y3T8;Q13398 AB209273;AB209847;ABBA01020805;AC003682;AK026941;AK294869;AK296942;AK297047;AK304666;AL559417;AMYH02036518;AMYH02036519;BC018138;BC034351;BC089440;BC110856;CH471135;DA745028;DA961612;DR002950;NG_034028;NM_001265597;NM_001265598;NM_001265599;NM_001265600;NM_006385;NM_198855;NR_049752;NR_049753;NR_049754;U38904 AAA93261;AAH34351;AAH89440;AAI10857;BAD92510;BAD93084;BAG57971;BAG59491;BAG59573;BAG65441;EAW72520;EAW72521;EAW72522;NP_001252526;NP_001252527;NP_001252528;NP_001252529;NP_006376;NP_942152;Q13398 Hs.590977 2164898;2167044 RH18297;STS-U38904 C2H2-25;CH2H2-25;MGC131841;ZNF-25;ZNFC25 OTTHUMP00000237576;OTTHUMP00000237580;OTTHUMP00000237582;zinc finger protein C2H2-25 protein-coding ENSG00000121417 HGNC:13003 03512 601856 VALIDATED 8655690 ZNF213-AS1 ZNF213 antisense RNA 1 (head to head) 16 16 16 p13.3 3387148 3390359 - 3175601 3184878 - 3125600 3134877 - 23934736 100507458 ABBA01026727;ABBA01026728;AC108134;AF098968;AI934565;AMYH02031282;AMYH02031283;BC013599;BG752676;HG507665;HG507666;HG507669;NR_110900;XR_243341;XR_248273;XR_253486 Hs.522143;Hs.649638 ncrna HGNC:50505 VALIDATED 1314237 ZNF213 zinc finger protein 213 C2H2 zinc finger proteins, such as ZNF213, have bipartite structures in which one domain binds DNA or RNA and the other modulates target gene expression.[supplied by OMIM, Apr 2004] 16 16 16 p13.3 3390538 3398418 + 3185057 3192805 + 3135056 3142804 + 1580863;6480464;8554872 10023065;12477932;14702039;15489334;16344560;23314748;23934736;8889548;9653642 7760 I3L1Z4;I3L216;I3L2V8;I3L473;O14771 ABBA01026728;AC108134;AF017433;AK055337;AK289834;AK291789;AK297454;AMYH02031283;BC007287;BC007598;BC012772;BC080572;BC116445;BM974318;CH471112;DA115503;DA811482;NM_001134655;NM_004220;NR_104432;XM_006720942;XM_006720943 AAB70531;AAH07287;ADZ15594;BAF82523;BAF84478;BAG59878;EAW85393;EAW85394;NP_001128127;NP_004211;O14771;XP_006721005;XP_006721006 Hs.115284 2112906 D16S3369 CR53;ZKSCAN21;ZSCAN53 putative transcription factor CR53;zinc finger protein with KRAB and SCAN domains 21 APPROVED protein-coding ENSG00000085644 HGNC:13005 12224 608387 VALIDATED 1349128 ZNF214 zinc finger protein 214 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH lead(0); lead(2+); melphalan 11 11 11 p15.4 7139602 7160626 - 7020549 7041586 - 6999318 7020355 - 1580863;6480464;8554872 10762538;12477932;16344560;21448237;7959730 7761 Q9UL59 AA678604;ABBA01028675;AC100875;AF056617;AK313462;AMYH02024275;BC136772;BC144405;CH471064;DB262997;NM_013249;XM_005253128;XM_005253129;XM_006718308;XM_006718309;XM_006718310 AAF00004;AAI36773;AAI44406;BAG36248;EAW68669;NP_037381;Q9UL59;XP_005253185;XP_005253186;XP_006718371;XP_006718372;XP_006718373 Hs.733636 1647917;2111952 D11S1098;D11S4723 BAZ 1;BAZ-1;BAZ1 BWSCR2-associated zinc finger protein 1;OTTHUMP00000230469 protein-coding ENSG00000149050 HGNC:13006 05424 605015 VALIDATED 1346858 ZNF209P zinc finger protein 209, pseudogene 19 19 19 p12 22478737 22487151 + 22646725 22655138 + 22463923 22472336 + 9724325 441843 ABBA01051411;AC004004;AC025811;AMYH02035824;NG_021760 1749715 SHGC-111393 ZNF209 APPROVED pseudo HGNC:13000 INFERRED 1344334 ZNF215 zinc finger protein 215 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene 11 11 11 p15.4 7066721 7098348 + 6947654 7009718 + 6926423 6988487 + 1580863;6480464;8554872 10762538;12477932;22505724;22939624;24483146;7959730 7762 Q9UL58 ABBA01028674;AC090160;AC100875;AF056618;AK298365;AMYH02024275;BC014538;BX117423;CH471064;CN483744;NM_013250;XM_005253130;XM_006718311;XM_006718312 AAF00005;AAH14538;BAG60607;EAW68671;NP_037382;Q9UL58;XP_005253187;XP_006718374;XP_006718375 Hs.523457 1684672;2110807;2148109;5015861;5020948;5109281;7185938 D10S16;D1S1425;G35510;RH65576;RH98892;ZNF215_414 BAZ 2;BAZ-2;BAZ2;ZKSCAN11;ZSCAN43 BWSCR2-associated zinc finger protein 2;OTTHUMP00000230006;OTTHUMP00000230468;zinc finger protein with KRAB and SCAN domains 11 protein-coding ENSG00000149054 HGNC:13007 05425 605016 VALIDATED 7048123 ZNF205-AS1 ZNF205 antisense RNA 1 16 16 16 p13.3 3365939 3371077 - 3160461 3165599 - 3110460 3115598 - 12477932 81854 ABBA01026727;AC108134;AMYH02031281;BC001809;BC001824;BC020202;BC121099;BC121100;HG507660;NR_024166;NR_024167 Hs.669490 1715037;5015961;5022322 D11S2560;D15S1477;RH119820 RP11-473M20.15 ncrna ENSG00000263214 HGNC:28586 VALIDATED 1318379 ZNF22 zinc finger protein 22 ENCODES a protein that exhibits DNA binding (ortholog); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus; INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 10 10 10 q11 41499447 41503956 + 45496273 45500777 + 45000825 45005329 + 1580863;6480464 12477932;1421376;14630903;1505991;15489334;1639412;17207965;18029348;1946370;2014798;21139048;21832049;22505724;2288909;24816145 7570 P17026 ABBA01050024;AK291508;AK312278;AL353801;AMYH02022729;AU310379;AY137767;BC010642;BC026193;BC041139;BC053687;BT009806;CH471160;M77172;NM_006963;S50223;X52346 AAA36815;AAB24264;AAH10642;AAH41139;AAH53687;AAN15804;AAP88808;ADQ31618;BAF84197;CAA36572;EAW86632;EAW86633;NP_008894;P17026 Hs.462693;Hs.655124 1661678;1683215;1743167;2186565 GDB:280588;RH91090;WI-17820;WI-21656 HKR-T1;KOX15;ZNF422;Zfp422 OTTHUMP00000019498;krox-26 protein;zinc finger protein 22 (KOX 15);zinc finger protein KOX15;zinc finger protein Krox-26 APPROVED protein-coding ENSG00000165512 HGNC:13012 01917 194529 VALIDATED 1318226 ZNF217 zinc finger protein 217 ENCODES a protein that exhibits transcription regulatory region DNA binding; INVOLVED IN negative regulation of transcription, DNA-templated; regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN histone deacetylase complex; nucleoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; cobalt dichloride 20 20 20 q13.2 48888265 48904290 - 52183610 52210801 - 53567071 53608787 - 1580863;6480464;8554872 11171972;11245413;11780052;12477932;12493763;12700765;12845628;15302935;15489334;15756435;16079794;16140033;16203743;16940172;17130829;17572303;17967884;18425333;18625718;19242095;19322201;19403395;19754958;20429623;20467438;20661224;21059223;21139048;21483406;21908891;22139760;22593193;22728437;22815235;22843878;23251661;23436653;23752268;24615544;8134364;9671742 7764 A2A326;H0UI66;O75362;Q9BZ31 ABBA01052849;AC005808;AF041259;AK290350;AL157838;AMYH02037293;BC039055;BC113427;CH471077;NM_006526;XM_005260545;XM_006723875 AAC39895;AAI13428;BAF83039;EAW75578;EAW75579;EAW75580;EAW75581;NP_006517;O75362;XP_005260602;XP_006723938 Hs.155040;Hs.711564 1687530;1793344;2124228;2166350 PMC21140P1;RH46361;RH92975;WI-9992 ZABC1 OTTHUMP00000031307 protein-coding ENSG00000171940 HGNC:13009 04272 602967 VALIDATED 1317263 ZNF212 zinc finger protein 212 This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 143605935 143621892 + 148936741 148952700 + 149239651 149255609 + 1580863;6480464 12477932;12690205;12853948;15489334;18255255;20211142;23455924;7633419;9169157;9847074 7988 B3KQE6;F2Z3G9;H7C589;H7C5A9;Q9UDV6 AACC02000041;ABBA01033628;AC004890;AI242662;AK074821;AK315086;AMYH02017043;AMYH02017044;BC022785;CH471146;NM_012256;U38864;XM_005250055;XM_006716133;XM_006716134 AAC51296;AAD45826;AAH22785;ABZ92267;BAG37551;BAG52008;EAL24431;EAW80053;EAW80054;NP_036388;Q9UDV6;XP_005250112;XP_006716196;XP_006716197 Hs.490510 1767455;1774746;2108663;2142918 D7S2048E;GDB:4585595;SGC31646;ZNF212_8773 C2H2-150;MGC9707;ZNF182;ZNFC150 OTTHUMP00000213752;OTTHUMP00000213756;Zinc finger protein C2H2-150 APPROVED protein-coding ENSG00000170260 HGNC:13004 03859 602386 REVIEWED 1347695 ZNF219 zinc finger protein 219 ENCODES a protein that exhibits DNA binding; sequence-specific DNA binding transcription factor activity; INVOLVED IN negative regulation of transcription, DNA-templated; regulation of transcription, DNA-templated; transcription, DNA-templated; FOUND IN nucleus; INTERACTS WITH aflatoxin B1; arsenite(3-); atrazine 14 14 14 q11 1418766 1433427 - 21558205 21572863 - 21090046 21104704 - 1580863;6480464 10819330;12477932;14611647;14621294;14702039;15489334;16344560;16712791;17081983;19549071;20940257;21900206;21988832;22094256;8125298 51222 G3V2E3;G3V2Q8;G3V2W3;G3V3F2;G3V452;G3V4M7;G3V4T1;Q9P2Y4 AB015427;ABBA01061239;ABBA01061240;AK056261;AK225811;AK290700;AL161668;AMYH02028827;AMYH02028828;AMYH02028829;BC000694;BC036105;BT006956;CB152705;CH471078;DA013397;DC358466;NM_001101672;NM_001102454;NM_016423;XM_005267739;XM_006720162;XM_006720163;XM_006720164 AAH00694;AAH36105;AAP35602;BAA90526;BAF83389;EAW66404;EAW66405;EAW66406;EAW66407;NP_001095142;NP_001095924;NP_057507;Q9P2Y4;XP_005267796;XP_006720225;XP_006720226;XP_006720227 Hs.250493 1649278;1680789;2121138;2131019;2176507 RH44613;RH70501;RH92583;SGC34588;SHGC-31144 ZFP219 OTTHUMP00000164401;OTTHUMP00000218009;OTTHUMP00000245900 protein-coding ENSG00000165804 HGNC:13011 05435 605036 VALIDATED 1347890 ZNF221 zinc finger protein 221 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene (ortholog); bis(2-chloroethyl) sulfide (ortholog); bis(2-ethylhexyl) phthalate (ortholog) 19 19 19 q13.2 41258930 41275263 + 44455375 44471752 + 43951223 43967709 + 1580863;6480464;8554872 10449920;12477932;12743021;15057824;15161980;15489334 7638 K7EIT6;Q9UK13 ABBA01040872;AC006213;AC035150;AF187987;AK314207;AMYH02036175;BC111981;BC113426;BC143659;BP337374;CH471126;DA493401;KF459580;NM_001297588;NM_001297589;NM_013359;XM_005259206 AAF04103;AAF63029;AAI11982;AAI13427;ABZ92253;BAG36883;EAW57237;NP_001284517;NP_001284518;NP_037491;Q9UK13;XP_005259263 Hs.631598 MGC138186;MGC141986 protein-coding ENSG00000159905 HGNC:13014 10323 VALIDATED 1345369 ZNF222 zinc finger protein 222 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH bisphenol A; copper atom; copper(0) 19 19 19 q13.2 41332976 41340744 + 44529494 44537263 + 44025342 44033110 + 1580863;6480464;8554872 12477932;12743021;14702039;15057824;1559709;16344560;18029348;21906983 7673 K7EN43;Q9UK12 ABBA01040872;AC067968;AF187988;AK095196;AMYH02036176;BC030261;CH471126;DB185422;KF510453;M67508;NM_001129996;NM_013360;XM_005259208;XM_005259209 AAA36132;AAF04104;AAF66075;AAH30261;BAG53006;EAW57242;EAW57243;EAW57244;NP_001123468;NP_037492;Q9UK12;XP_005259265;XP_005259266 Hs.279840 1777203;2118262;2172415 RH12291;SGC35832;STS-U46189 protein-coding ENSG00000159885 HGNC:13015 15748 VALIDATED 1353320 ZNF223 zinc finger protein 223 This gene encodes a protein containing a Kruppel-associated box domain and multiple zinc finger domains. The function of this protein has yet to be determined. [provided by RefSeq, Mar 2014] 19 19 19 q13.2 41359645 41376279 + 44556164 44572142 + 44052011 44067989 + 1580863;6480464;8554872 10449920;12477932;12743021;21906983;23602568;8617494 7766 K7EPW2;K7EQ32;K7ER65;Q9UK11 ABBA01040872;ABBA01040873;AC084219;AC092072;AF187989;AK292327;AMYH02036176;BC022466;CH471126;DR761157;HY311227;NG_034021;NM_013361;U46189;XM_006723365;XM_006723366 AAB03531;AAF04105;AAG23844;AAH22466;ABZ92261;ADZ15419;BAF85016;EAW57245;EAW57246;EAW57247;EAW57248;NP_037493;Q9UK11;XP_006723428;XP_006723429 Hs.720813 1706276;1777203 SHGC-80690;STS-U46189 Homo sapiens zinc finger protein 223;KRAB A domain;Zinc finger protein ZNF223 protein-coding ENSG00000178386 HGNC:13016 15749 VALIDATED 1350705 ZNF224 zinc finger protein 224 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of transcription, DNA-templated; FOUND IN nuclear membrane; nucleus; transcriptional repressor complex; INTERACTS WITH all-trans-retinoic acid; arsenous acid; benzo[a]pyrene 19 19 19 q13.2 41402617 41416614 + 44598482 44613997 + 44094329 44109844 + 1580863;6480464 10585455;12239212;12477932;12527367;12743021;15302935;15489334;15576338;16150558;16344560;17900823;19118814;19505435;19741270;20379614;20574532;20587513;20591825;21187159;2288909;23362234 7767 K7EJ30;K7EL24;K7ENI7;Q9NZL3 ABBA01040874;AC021092;AC084219;AC114266;AF067164;AF187990;AK292500;AMYH02036177;AY148489;BC002889;BC051902;CH471126;DA245440;NM_013398;X52353;XM_005259221 AAD32448;AAF04106;AAF24968;AAG23845;AAH02889;AAH51902;AAN61121;ABZ92262;BAF85189;CAA36579;EAW57250;EAW57251;EAW57252;EAW57253;EAW57254;NP_037530;Q9NZL3;XP_005259278 Hs.585869;Hs.744152 1690500;1694694;1714811;1734712;2174706;5015961;5017170 D15S1477;D19S701E;G43534;L29953;RH120072;RH79753;WI-21930 BMZF-2;BMZF2;KOX22;ZNF255;ZNF27 bone marrow zinc finger 2;zinc finger 2, bone marrow;zinc finger protein 233;zinc finger protein 255;zinc finger protein 27 (KOX 22);zinc finger protein KOX22;zinc finger protein ZNF255 protein-coding ENSG00000267680 HGNC:13017 06094 194555 VALIDATED 1346174 ZNF225 zinc finger protein 225 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH amiodarone; copper(2+) sulfate; ethyl methanesulfonate 19 19 19 q13.2 41421682 41441389 + 44617528 44637255 + 44113375 44133102 + 1580863;6480464;8554872 10737800;12477932;12743021;15057824;15489334;16344560;8125298 7768 K7ENA2;K7ENC8;K7ERU6;Q9UK10 ABBA01040874;AC021092;AC074331;AF027138;AF187991;AK223477;AK292437;AK302106;AK313301;AMYH02036177;BC108912;BQ373092;CH471126;DA537943;NM_013362;XM_005259222;XM_005259223 AAB84017;AAF04107;AAF24967;AAF88105;AAI08913;BAD97197;BAF85126;BAG63487;EAW57255;NP_037494;Q9UK10;XP_005259279;XP_005259280 Hs.279567 MGC119735 C2-H2 type zinc finger protein protein-coding HGNC:13018 15750 VALIDATED 1348111 ZNF229 zinc finger protein 229 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; 5-aza-2'-deoxycytidine; cyclosporin A 19 19 19 q13.31 41734424 41756654 - 44930423 44952766 - 44426254 44448578 - 1580863;6480464;8554872 12477932;12743021;14702039;15057824;16344560;20694014;21890473;22505724;23000965 7772 K7EIU9;Q9UJW7 AB209357;ABBA01040878;AC084239;AC138473;AC245748;AF192979;AK091541;AY166791;BC150612;BM663713;CR936724;DA856295;NM_001278510;NM_014518;NR_103551;XM_006723372 AAF07964;AAG23970;AAI50613;AAO45840;BAC03689;BAD92594;NP_001265439;NP_055333;Q9UJW7;XP_006723435 Hs.709348 2160770 SHGC-36805 FLJ34222 protein-coding ENSG00000278318 HGNC:13022 18324 VALIDATED 1343710 ZNF226 zinc finger protein 226 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; acetaldehyde; atrazine 19 19 19 q13.2 41473314 41485931 + 44669215 44682534 + 44165062 44178381 + 1580863;6480464;8554872 12477932;12743021;14702039;15057824;15161980;15489334;16344560;20211142;21890473 7769 B2RBM0;K7EJ66;K7EK05;K7EKQ6;K7EL77;K7ELA3;K7ELM4;K7EPU4;K7EQC3;K7ERY1;K7ESM6;Q9NYT6 ABBA01040874;AC074331;AC138470;AF024707;AF070666;AF228418;AF246126;AK023091;AK314554;AK314724;AMYH02036177;AX882580;BC017786;BC024197;BI457780;BX091242;BX537487;BX648775;CD700800;CF596130;CH471126;DA178589;DA521074;DR002748;H96353;NM_001032372;NM_001032373;NM_001032374;NM_001146220;NM_015919;XM_005259224;XM_005259225;XM_005259226;XM_005259227;XM_005259228;XM_006723367;XM_006723368;XM_006723369 AAB81097;AAD20972;AAF34786;AAF76875;AAF88103;AAH17786;AAH24197;ABZ92263;ADR82702;BAB14398;BAG37139;BAG37267;CAE91637;EAW57258;EAW57259;EAW57260;NP_001027544;NP_001027545;NP_001027546;NP_001139692;NP_057003;Q9NYT6;XP_005259281;XP_005259282;XP_005259283;XP_005259284;XP_005259285;XP_006723430;XP_006723431;XP_006723432 Hs.145956 1655031;1768971;2149381;5022578;5022651 D11S2921;D1S1423;G30946;RH78817;STS-AA007349 Kruppel-associated box protein protein-coding ENSG00000167380 HGNC:13019 15751 VALIDATED 1316246 ZNF23 zinc finger protein 23 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH cisplatin; fonofos; parathion 16 16 16 q22.2 55797355 55811972 - 71481500 71496295 - 71447597 71462214 - 1580863;6480464 12127974;12477932;14702039;15489334;17137575;18384939;20211142;21832049;21965783;2288909;7865130;8500793 7571 H0Y310;H3BMC6;H3BPE6;P17027 ABBA01016777;AC010547;AF024709;AF226996;AF507946;AK091039;AK297130;AL080123;AL833815;AMYH02032314;AY500362;BC007256;BC048974;BT007400;BX537507;NM_145911;X52347 AAB81099;AAH07256;AAH48974;AAK28321;AAM33359;AAP36064;AAS55112;BAG52267;BAG59634;CAA36573;CAB45722;CAD38678;CAD97769;NP_666016;P17027 Hs.656643 1856531;2173468 SHGC-36642;SHGC-61087 KOX16;MGC57283;ZNF359;ZNF612;Zfp612 OTTHUMP00000174920;OTTHUMP00000174921;kruppel-like zinc finger factor X31;zinc finger protein 23 (KOX 16);zinc finger protein 32;zinc finger protein 359;zinc finger protein 612;zinc finger protein KOX16 APPROVED protein-coding ENSG00000167377 HGNC:13023 01915 194527 PROVISIONAL 1343277 ZNF230 zinc finger protein 230 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsane; arsenic atom; atrazine 19 19 19 q13.31 41310560 41321557 + 44507077 44518072 + 44002925 44013920 + 1580863;6480464 11672448;12477932;12743021;14702039;15057824;15489334;15640038;15952109;17043677;18584306;18676680;19170196;19625176;19684603;19692168;20379614 7773 K7EJU4;K7ELA7;K7EMK6;Q9UIE0 ABBA01040872;AC006213;AC018725;AC067968;AF024701;AK056865;AMYH02036176;BC030810;BC050340;BC066950;BC094708;CH471126;NM_006300;U95044 AAB62180;AAB81091;AAF18685;AAF66074;AAH50340;AAH94708;ABZ92264;EAW57241;NP_006291;Q9UIE0 Hs.193583 2108665;5022200;5022588;5022651 D11S2921;D5S1597E;L18426;ZNF230_8758 FDZF2 zinc finger protein FDZF2 protein-coding ENSG00000159882 HGNC:13024 15754 VALIDATED 1351628 ZNF227 zinc finger protein 227 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; ethyl methanesulfonate 19 19 19 41520778 41545508 + 44716684 44741421 + 44212528 44237268 + 6480464;8554872 12477932;12743021;14702039;15489334;16582619;20562864;21900206;21988832;7865130 7770 B7Z6M2;K7EIL7;K7EIR9;K7EJ92;K7ELS1;K7EPR2;Q658S5;Q86WZ6 ABBA01040875;AC074331;AC138470;AK092253;AK299266;AK300576;AK311670;AK316048;AL833012;AMYH02036178;AY166786;AY500355;BC047570;BU153285;CH471126;DA494064;DA514267;DA929840;DC341721;NM_001289166;NM_001289167;NM_001289168;NM_001289169;NM_001289170;NM_001289171;NM_001289172;NM_001289173;NM_182490;XM_005259232;XM_006723370;XM_006723371 AAF88107;AAH47570;AAO45835;AAS55105;ADZ15642;BAG52509;BAH12985;BAH13308;BAH14419;CAH56268;EAW57261;EAW57262;NP_001276095;NP_001276096;NP_001276097;NP_001276098;NP_001276099;NP_001276100;NP_001276101;NP_001276102;NP_872296;Q86WZ6;XP_005259289;XP_006723433;XP_006723434 Hs.298089 1778481 HSC2CF072 protein-coding ENSG00000131115 HGNC:13020 15752 VALIDATED 1353655 ZNF233 zinc finger protein 233 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH lead(0); lead(2+); valproic acid 19 19 19 q13.31 41568152 41583542 + 44764033 44779470 + 44259880 44275317 + 737633;6480464;8554872 12477932 12743021;14702039;16344560;18029348;21078624;22505724 353355 A6NK53;K7EJE5;K7EJT0;K7EN46;K7ER86;Q9NS42 ABBA01040875;ABBA01040876;AC074331;AC138470;AK055310;AK095351;AMYH02036178;AY166792;BC047795;BC136734;BC136735;CH471126;CR743367;DA393180;DB071795;NM_001207005;NM_181756 A6NK53;AAF88106;AAI36735;AAI36736;AAO45841;BAG53032;EAW57263;EAW57264;EAW57265;EAW57266;NP_001193934;NP_861421 Hs.466891 1699286;2114340;2187440 D19S1007;RH103226;WI-22227 FLJ38032 protein-coding ENSG00000159915 HGNC:30946 15756 VALIDATED 1351576 ZNF232 zinc finger protein 232 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (S)-colchicine; adenine; arsenite(3-) 17 17 17 p13.2 5026656 5044028 - 5009029 5026411 - 5105734 5123102 - 1580863;6480464 11311944;12477932;14702039;15174051;15489334;16189514;20211142;24250222;8125298 7775 B4DP49;I3L4H6;I3L4J6;Q9UNY5 ABBA01054794;ABBA01054795;AC012146;AF080169;AF080170;AF080171;AK057506;AK225622;AK297835;AK298190;AK316369;AMYH02032844;BC002852;BC016039;BQ641476;CH471108;NM_014519;XM_005256792;XM_006721574;Y15067 AAD46135;AAH16039;ABZ92452;BAG51923;BAG60169;BAG60461;BAH14740;CAB95963;EAW90358;NP_055334;Q9UNY5;XP_005256849;XP_006721637 Hs.279914 1730309;2108667;2129664;2170514;2170516;2174105;5107548 A006J03;D17S611;D17S826E;G20862;RH41805;STS-D29561;ZNF232_8759 ZSCAN11 OTTHUMP00000125302;zinc finger and SCAN domain-containing protein 11 protein-coding ENSG00000167840 HGNC:13026 15755 VALIDATED 1344990 ZNF234 zinc finger protein 234 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; copper(2+) sulfate 19 19 19 q13.31 41449810 41468561 + 44645710 44664462 + 44141557 44160309 + 1580863;6480464;8554872 12477932;12743021;15489334;18029348;18624398;19322201;23398456;7865130 10780 K7ELL2;Q14588 ABBA01040874;AC021092;AC074331;AC138470;AF027142;AF027143;AF228417;AK289843;AK314064;AMYH02036177;AY166787;AY166788;BC007303;CH471126;NM_001144824;NM_006630;X78927;XM_006722973;XM_006722974;XM_006722975 AAB84021;AAB84022;AAF34785;AAF88104;AAH07303;AAO45836;AAO45837;BAF82532;CAA55527;EAW57256;EAW57257;NP_001138296;NP_006621;Q14588;XP_006723036;XP_006723037;XP_006723038 Hs.235992 1730307;1748493;5014029;5022651;5037554;7183718;7184685 D11S2921;D13S1639;D19S239E;D8S2282;SHGC-340 HZF4;ZNF269 C2-H2 type zinc finger protein;Homo sapiens zinc finger 234;zinc finger protein 234, partial sequence;zinc finger protein 269;zinc finger protein 4;zinc finger protein HZF4 protein-coding ENSG00000263002 HGNC:13027 09206 604750 VALIDATED 1350686 ZNF235 zinc finger protein 235 This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 41594584 41613264 - 44790501 44809606 - 44286348 44305451 - 6480464 12477932;15489334;21549307;21900206;22505724;7865130;8617494;9570955 9310 K7EKI9;K7EL19;K7ES94;K7ESF8;Q14590 ABBA01040876;AC084239;AC092477;AC138470;AC138473;AF027513;AF027514;AK300317;AK307103;AK315242;AMYH02036178;BC002663;BC002800;BC105807;BC117215;BC143482;BC143484;CH471126;NM_004234;X78929;XM_005259412 AAD12728;AAD12729;AAG23969;AAI05808;AAI17216;BAG62069;CAA55529;EAW57267;NP_004225;Q14590;XP_005259469 Hs.613424;Hs.724032 1783774;1783858;2149006 G31557;SHGC-106960;SHGC-84207 ANF270;HZF6;ZFP93;ZNF270;zfp-93 zinc finger protein 270;zinc finger protein 6;zinc finger protein 93 homolog;zinc finger protein HZF6;zinc finger protein homologous to Zfp93 in mouse;zinc finger protein homologous to mouse Zfp93 APPROVED protein-coding ENSG00000159917 HGNC:12866 05299 604749 REVIEWED 1350286 ZNF241 zinc finger protein 241 22967 HGNC:13034 1342563 ZNF240 zinc finger protein 240 22968 HGNC:13033 1351594 ZNF239 zinc finger protein 239 MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM, Mar 2008] 10 10 10 q11.22-q11.23 40055429 40073702 - 44051792 44070066 - 43556344 43574618 - 1580863;6480464;8554872 12409453;12477932;15057824;15489334;16344560;16385451;17081983;17760566;19490114;19913121;20628086;20641033;8587123;8903737;9121460 8187 Q16600 ABBA01050012;AK292013;AL450326;AMYH02022716;BC026030;CH471160;DA686973;DA937379;NM_001099282;NM_001099283;NM_001099284;NM_005674;X82125;X82126;X82128;XM_005271828;XM_005271829;XM_005271831;XM_005271832;XM_006718001;XM_006718002;XM_006718003 AAH26030;ABZ92270;BAF84702;CAA57637;CAA57638;EAW86602;EAW86603;EAW86604;NP_001092752;NP_001092753;NP_001092754;NP_005665;Q16600;XP_005271885;XP_005271886;XP_005271888;XP_005271889;XP_006718064;XP_006718065;XP_006718066 Hs.25040 1681490;2107779;2176683 G17516;RH79937;ZNF239__4989 HOK-2;MOK2 OTTHUMP00000019483;OTTHUMP00000019484;zinc finger protein (C2H2) homologous to mouse MOK-2;zinc finger protein HOK-2;zinc finger protein MOK-2 APPROVED protein-coding ENSG00000196793 HGNC:13031 03044 601069 VALIDATED 1354485 ZNF242 zinc finger protein 242 22966 HGNC:13035 1352424 ZNF243 zinc finger protein 243 22965 HGNC:13036 1320136 ZNF236 zinc finger protein 236 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN cellular response to glucose stimulus; FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; formaldehyde; hydrogen peroxide 18 18 18 q22-q23 71352360 71499717 + 74535149 74682688 + 76822582 76970732 + 1580863;6480464 10458916;12477932;12906866;18029348;19240061;19690890;22505724;23648065;9299475 7776 J3QQL1;J9JID5;Q9UL36 AB208834;ABBA01015286;ABBA01015287;ABBA01015288;ABBA01015289;ABBA01015290;ABBA01015291;AC027575;AC093330;AF083213;AF085243;AF085244;AMYH02035024;AMYH02035025;AMYH02035026;BC140859;BX648028;CH471117;NM_007345;XM_005266762;XM_006722541 AAC72200;AAD55328;AAD55329;AAI40860;BAD92071;EAW66587;NP_031371;Q9UL36;XP_005266819;XP_006722604 Hs.719137 1654678;1656863;1660801;1752533;1769217;1850607;1850609;2108669;2120760;2159429 A005Q43;D18S1036;D18S1227;G20425;RH35982;RH46874;SHGC-106421;STS-H93452;WI-19917;ZNF236_8760 ZNF236A;ZNF236B regulated by glucose protein-coding ENSG00000130856 HGNC:13028 05301 604760 VALIDATED 1344102 ZNF24 zinc finger protein 24 ENCODES a protein that exhibits sequence-specific DNA binding (ortholog); INVOLVED IN negative regulation of transcription, DNA-templated; myelination (ortholog); FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; hydrogen peroxide; methyl methanesulfonate 18 18 18 q12 29720074 29732324 - 32912178 32924428 - 35332214 35344464 - 1580863;6480464 10567577;10585455;12477932;14499622;14702039;15489334;15561718;15592455;16169070;16189514;17270462;18029348;18472161;19060904;19463170;19471022;19544452;19615732;2004757;20195357;20211142;20453000;20510677;20562859;21382349;21532573;21549307;21693764;21906983;22213192;22678762;2288909;22902626;22939629;23212515;24224020 7572 K7EPL1;K7EPZ8;K7EQP8;P17028 ABBA01022450;AC116447;AF016052;AF038964;AF542097;AK021966;AK291246;AMYH02034551;BC003566;BC016801;BT006658;CH471088;CR450328;NM_006965;U68536;X52348;XM_005258341;XM_005258342 AAB37275;AAB70216;AAD19827;AAH03566;AAH16801;AAN40767;AAP35304;ADR82721;BAF83935;CAA36574;CAG29324;EAX01348;EAX01349;EAX01350;NP_008896;P17028;XP_005258398;XP_005258399 Hs.514802 1684894;1699988;1854712;2114890;2127499;2178865;5019769;5106282 A009Q31;D18S1233;G32784;RH103604;RH48366;RH91536;SHGC-37487;STS-W73139 KOX17;RSG-A;ZNF191;ZSCAN3;Zfp191 OTTHUMP00000163383;lacks zinc finger domain;retinoic acid suppression protein A;zinc finger and SCAN domain-containing protein 3;zinc finger protein 191;zinc finger protein 24 (KOX 17);zinc finger protein KOX17 protein-coding ENSG00000172466 HGNC:13032 01921 194534 VALIDATED 1347552 ZNF244 zinc finger protein 244 22964 HGNC:13037 1346616 ZNF245 zinc finger protein 245 22963 HGNC:13038 1344707 ZNF247 zinc finger protein 247 22961 HGNC:13040 1342619 ZNF246 zinc finger protein 246 22962 HGNC:13039 1350303 ZNF249 zinc finger protein 249 22959 HGNC:13042 1345050 ZNF252P zinc finger protein 252, pseudogene INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; torcetrapib 8 8 8 q24.3 142376018 142405321 - 146198975 146228285 - 144973589 145002899 - 1580863;6480464 12477932;16344560;8889548 286101 ABBA01005192;AF235103;AK027662;AK128723;AK294723;AK296398;AMYH02019020;BC016287;BC019922;BC051730;BC065734;BI254488;BX478460;CA311045;CF145574;DA489661;DB233439;KF458889;NR_023392 BAG57870;BAG59065 Hs.367856 1668899;1679916;1690746;2138936;5024761 A002E08;A002P02;RH36905;RH44072;RH65120 ZNF252 APPROVED pseudo HGNC:13046 VALIDATED 1349221 ZNF248 zinc finger protein 248 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; quercetin 10 10 10 p11.2 37888679 37917261 - 38065454 38147012 - 37744363 37858084 - 1580863;6480464;8554872 12477932;12566394;16385451;19553259;22505724;24250222 57209 A2RUI7;B1AL40;B1AL42;Q8NDW4;S4R340 AA836603;ABBA01033294;ABBA01033295;ABBA01033296;AJ245586;AJ245587;AJ491695;AJ492196;AK293936;AK293971;AK299357;AL049341;AL132657;AL135791;AMYH02022657;BC021819;BC110869;BC132915;BC132917;BC146820;CH471072;DA128760;DB073240;NM_001267597;NM_001267605;NM_001267606;NM_001267607;NM_021045;XM_005252541;XM_006717484;XM_006717485;XM_006717486;XR_428638;XR_428639;XR_428640;XR_428641;XR_428642;XR_428643;XR_428644;XR_428645;XR_428646 AAH21819;AAI10870;AAI32916;AAI32918;AAI46821;BAG57314;BAG57343;BAG61352;CAB52478;CAB52547;CAD36954;CAD37332;EAW85896;EAW85897;EAW85898;EAW85899;NP_001254526;NP_001254534;NP_001254535;NP_001254536;NP_066383;Q8NDW4;XP_005252598;XP_006717547;XP_006717548;XP_006717549 Hs.528423;Hs.742118 1652254;2153191 RH69231;WI-11092 KIAA0137;MGC131882;bA162G10.3 KRAB protein domain;Kruppel-type zinc finger protein;OTTHUMP00000019461;OTTHUMP00000019462;OTTHUMP00000019463;OTTHUMP00000019464;bA162G10.3 (zinc finger protein) protein-coding ENSG00000198105 HGNC:13041 15757 VALIDATED 2303889 ZNF252P-AS1 ZNF252P antisense RNA 1 8 8 8 q24.3 142405233 142408468 + 146228197 146231432 + 145002811 145006046 + 12477932;14702039 286103 Q0IIN9 ABBA01005192;AF235103;AK092777;AMYH02019020;BC046439;BC122544;BX104600;NR_026974 BAC03974;Q0IIN9 Hs.359978 C8orf77;MGC141859 APPROVED ncrna ENSG00000255559 HGNC:27821 VALIDATED 1344079 ZNF25 zinc finger protein 25 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH cyclosporin A; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 10 10 10 p11.1 38009589 38036247 - 38238500 38265584 - 37949572 37976656 - 1580863;6480464 10942432;12477932;12566394;14702039;15489334;16385451;1639412;22505724;2288909;8464732 219749 B1AKS7;P17030 ABBA01033291;AJ491696;AK056452;AK056635;AK091378;AK122958;AL117337;AL834125;AL834244;AMYH02022659;AMYH02022660;BC036038;CH471072;NM_145011;X52350;XM_005252384;XM_005252385;XM_005252386;XM_006717391 AAH36038;ABZ92547;BAB71187;CAA36576;CAD36955;CAD38845;EAW85895;NP_659448;P17030;XP_005252441;XP_005252442;XP_005252443;XP_006717454 Hs.499429 1682563;1689903;1742261 GDB:193877;RH44706;RH66187 DKFZp564C206;FLJ31890;KOX19;Zfp9 OTTHUMP00000020828;OTTHUMP00000020829;zinc finger protein 25 (KOX 19);zinc finger protein KOX19 protein-coding ENSG00000175395 HGNC:13043 01916 194528 PROVISIONAL 1322438 ZNF251 zinc finger protein 251 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH zinc atom; zinc(0); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 8 8 8 q24.3 142123518 142158192 - 145946294 145981285 - 144720909 144760817 - 1580863;6480464 12477932;14702039;15231748;15489334;16344560;16484223;18029348;20379614;22990118;24250222;8889548 90987 H0YCK5;Q9BRH9 ABBA01005195;AF186192;AF235103;AK000435;AK027286;AK091638;AMYH02019017;BC006258;BC093984;BC112137;BU674002;BX509447;CH471162;DA775010;DA811573;KF458886;NM_138367;XM_005272352;XM_005272353;XM_005272356;XM_006716681;XM_006716682;XM_006716683;XM_006725059;XM_006725060 AAH06258;AAI12138;EAW82060;NP_612376;Q9BRH9;XP_005272409;XP_005272410;XP_005272413;XP_006716744;XP_006716745;XP_006716746;XP_006725122;XP_006725123 Hs.534516 1786830;1786856;5493153 SHGC-172447;SHGC-172477;UniSTS:484467 FLJ34319 OTTHUMP00000228824 protein-coding ENSG00000198169 HGNC:13045 VALIDATED 1349906 ZNF250 zinc finger protein 250 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH atrazine; benzene; cyclosporin A 8 8 8 q24.3 142278872 142303378 - 146102336 146127453 - 144876951 144902068 - 737633;1580863;6480464;8554872 12477932 14702039;15489334;16189514;16344560;20360068;21900206 58500 B3KNS9;E9PJU7;E9PKP2;E9PL28;E9PPG5;E9PQX5;F6RA56;P15622;Q3B7J8 AB208810;ABBA01005194;AF235103;AK054888;AK095705;AK294282;AMYH02019019;BC017091;BC107579;BX648173;CA422363;CH471162;DB206757;DB272357;DC314684;KC877380;NM_001109689;NM_021061;X16282;XM_005272327;XM_005272328;XM_005272330;XM_005272331;XM_006716612;XM_006716613 AAH17091;AAI07580;BAC04614;BAD92047;BAG51441;BAG57567;CAA34358;EAW82029;EAW82030;EAW82031;EAW82032;NP_001103159;NP_066405;P15622;XP_005272384;XP_005272385;XP_005272387;XP_005272388;XP_006716675;XP_006716676 Hs.532277 1732013;1850928;1855908;2159346;5015404;5015619;5015961;5022425;5022450;5037552 D10S275;D11S3114;D15S1477;D22S296;D8S2279;D8S595;L17705;SHGC-12722;STS-N33590;WI-14009 FLJ57354;MGC111123;MGC9718;ZFP647;ZNF647 OTTHUMP00000229080;OTTHUMP00000229081;OTTHUMP00000229082;OTTHUMP00000229083;OTTHUMP00000229084;OTTHUMP00000229085;OTTHUMP00000229086;zinc finger protein (clone 647);zinc finger protein 647 protein-coding ENSG00000196150 HGNC:13044 15758 VALIDATED 1348327 ZNF253 zinc finger protein 253 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; formaldehyde 19 19 19 p13.11 19882103 19909687 + 19976639 20005099 + 19865905 19893484 + 1580863;6480464 10585455;12477932;22505724 56242 K7EP55;O75346 ABBA01051343;AC011477;AF038951;AK074757;AK074872;AMYH02035769;BC014148;BC022891;BC053607;BC065572;BC125063;BC125064;CH471106;NM_021047 AAC26844;AAH14148;AAH65572;AAI25064;AAI25065;BAC11185;BAC11257;EAW84863;EAW84864;NP_066385;O75346 Hs.301059 1783842;2220430;5037552;7186918 D8S2279;ERV3;SHGC-172287;UniSTS:481985 BMZF-1;BMZF1;FLJ90391;ZNF411 DNA-binding protein;bone marrow zinc finger 1;zinc finger protein 411 protein-coding HGNC:13497 06093 606954 PROVISIONAL 1350215 ZNF254 zinc finger protein 254 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002] 19 19 19 p12 24116905 24159422 + 24014991 24312770 + 23833255 24129968 + 1298632;1580863;6480464;8554872 9653160 10585455;11042152;12477932;12821146;14702039;15146197;15489334;16344560;18854154;22505724;23006423;8889548 9534 B4E0L9;F5H2M4;M0QZY2;M0R2X5;O75437;Q7Z2R1 ABBA01051450;ABBA01051451;ABBA01051452;ABBA01051453;ABBA01051454;AC011503;AC011543;AC073534;AC092279;AC139769;AF054180;AK092080;AK092150;AK092820;AK291286;AK303431;AL832713;AMYH02035850;AMYH02035851;AMYH02035852;AW503073;BC043147;BC044906;BC056243;BC139749;BM876253;BM976089;BU783464;BX281205;CH471106;CN267605;CN395850;DA101675;DA195951;DA230395;DA501852;DA684942;DA852860;DB286139;DB340394;DB539972;NM_001278661;NM_001278662;NM_001278663;NM_001278664;NM_001278665;NM_001278677;NM_001278678;NM_203282;XM_005260166;XM_005260167;XM_005260168;XM_005260169;XM_006722948;XM_006722949 AAC39913;AAH43147;AAH56243;AAI39750;BAF83975;BAG64481;EAW84960;EAW84961;NP_001265590;NP_001265591;NP_001265592;NP_001265593;NP_001265594;NP_001265606;NP_001265607;NP_975011;O75437;XP_005260223;XP_005260224;XP_005260225;XP_005260226;XP_006723011;XP_006723012 Hs.434406;Hs.729302 1685151;5113020;7186918 ERV3;RH68576;RH80873 BMZF-5;FLJ58216;HD-ZNF1;ZNF539;ZNF91L bone marrow zinc finger 5;hematopoietic cell-derived zinc finger protein 1;hematopoietic-derived zinc finger protein;zinc finger protein 539;zinc finger protein 91-like APPROVED protein-coding ENSG00000213096 HGNC:13047 05304;15826 604768 VALIDATED 1349092 ZNF259P1 zinc finger protein 259 pseudogene 1 6 6 6 q21 109852594 109854164 - 109106527 109108262 - 108785324 108787059 - 442240 ABBA01026142;AMYH02014276;CR627448;NG_009460;Z95118 Hs.626676 1672575;1694180;2004476 AL008751;REN73150;SHGC-30085 354J5;ZNF259P APPROVED pseudo HGNC:13052 INFERRED 1352745 ZNF256 zinc finger protein 256 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN negative regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH atrazine; cadmium atom; copper(2+) sulfate 19 19 19 q13.43 55495677 55502553 - 58452201 58459077 - 57940833 57947709 - 1580863;6480464;8554872 10585455;12477932;12878157;15489334;18060868;21890473 10172 M0R2X0;Q9Y2P7 ABBA01020789;ABBA01020790;AC010326;AF067165;AK314094;AMYH02036523;AU280306;BC001438;BT006853;CD656453;CH471135;NM_005773;XM_005258407 AAD32449;AAH01438;AAP35499;BAG36789;EAW72544;NP_005764;Q9Y2P7;XP_005258464 Hs.596242 BMZF-3;BMZF3 bone marrow zinc finger 3 protein-coding ENSG00000152454 HGNC:13049 06095 606956 VALIDATED 1606913 ZNF260 zinc finger protein 260 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN multicellular organismal development (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 2-methylcholine; coumestrol; disodium selenite 19 19 19 q13.12 33786507 33804162 - 37001589 37019248 - 36510687 36528346 - 6480464 12477932;14702039;15489334;16166646;16344560;18029348;21890473;7829101 339324 A8K5X7;Q3ZCT1 ABBA01016205;AC092295;AK122854;AK123830;AK291442;AMYH02036018;BC042676;BC119003;BC122549;BI493993;BQ938102;DB283305;NM_001012756;NM_001166036;NM_001166037;NM_001166038 AAH42676;AAI19004;AAI22550;BAF84131;NP_001012774;NP_001159508;NP_001159509;NP_001159510;Q3ZCT1 Hs.18103 1856047;2164275 RH69683;WI-11537 OZRF1;PEX1;ZFP260 OTTHUMP00000225000;zfp-260 protein-coding ENSG00000254004 HGNC:13499 18505 613749 VALIDATED 1342555 ZNF257 zinc finger protein 257 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsenite(3-); copper(2+) sulfate; ethyl methanesulfonate 19 19 19 q13 22067516 22106156 + 22235126 22274276 + 22052448 22091474 + 1580863;6480464;8554872 10585455;12477932;14702039;22505724 113835 M0QXX9;M0QYA6;M0R0N1;M0R321;Q9Y2Q1 ABBA01051399;ABBA01051400;ABBA01051401;AC003973;AC011482;AF070651;AK056694;AMYH02035819;BC020045;BC036446;BI553764;CH471106;NM_033468;XM_005259723;XM_005259724 AAD20957;AAH36446;ABZ92090;BAG51786;EAW84915;EAW84916;EAW84917;NP_258429;Q9Y2Q1;XP_005259780;XP_005259781 Hs.283900 1337278;2132874;2220430;2220626;5022651;7183711;7186918 D11S2921;D19S407;D1S2081;ERV3;UniSTS:481985;UniSTS:486333 BMZF-4;BMZF4 bone marrow zinc finger 4 protein-coding ENSG00000197134 HGNC:13498 06096 606957 PROVISIONAL 1347458 ZNF26 zinc finger protein 26 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 4-(ethoxymethylene)-2-phenyloxazol-5-one; copper(2+) sulfate; cyclosporin A 12 12 12 q24.33 133263250 133289352 + 133562934 133589154 + 132986348 133013914 + 6480464 12477932;14702039;15146197;15489334;16344560;2026422;2288909;8125298;8889548 7574 F5GZ77;F5H2P7;F5H6R4;P17031;V9HW07 ABBA01042534;ABBA01042535;AC073911;AK000762;AK122941;AK225296;AK291243;AL833057;AMYH02027597;AMYH02027598;BC008211;BC046206;BM718210;BT006963;BU194644;CH471218;CN268178;DA107937;DA737586;EU668356;NM_001256279;NM_001256280;NM_019591;X52351;XM_005266182;XM_005266183;XM_006719744;XM_006719745;XM_006719746;XR_429210 AAH08211;AAH46206;AAP35609;ACF94509;BAA91367;BAF83932;CAA36577;CAH56341;EAW54803;EAW54804;NP_001243208;NP_001243209;NP_062537;P17031;XP_005266239;XP_005266240;XP_006719807;XP_006719808;XP_006719809 Hs.489608 1689502;1750743;1846586;2110081;2148414;5020740;5022463;5037552 A008W21;D3S1673;D8S2279;L17809;RH91867;SHGC-34172;STS-R55615;ZNF26_8732 FLJ20755;HEL-179;KOX20 OTTHUMP00000237380;OTTHUMP00000237381;OTTHUMP00000237382;OTTHUMP00000237383;epididymis luminal protein 179;zinc finger protein 26 (kox 20);zinc finger protein KOX20 protein-coding HGNC:13053 01922 194537 VALIDATED 1349417 ZNF27 zinc finger protein 27 (KOX 22) 1580863 7575 P17033 X52353 HGNC:13063 1343571 ZNF267 zinc finger protein 267 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; arsane 16 16 16 p11.2 28380251 28423800 - 31885079 31928629 + 31873758 31917308 + 1580863;6480464;8554872 11121585;12477932;14702039;15489334;15592455;15814297;16054593;16344560;17081983;18029348;21840307;21988832;22076166;22505724;23602568;7865130 10308 H3BMG2;H3BNA3;H3BPW2;I3L4I6;Q14586 AA570774;ABBA01042104;AC034105;AF220492;AI636367;AK096390;AK292573;AL832123;AMYH02031858;AMYH02031859;BC036367;BC127088;BC127089;CH471192;DA657367;DB091947;DB484386;KF456187;NM_001265588;NM_003414;NR_049749;X78925;XM_006721005 AAF73867;AAH36367;AAI27089;AAI27090;ABZ92290;BAF85262;BAG53279;CAA55525;EAW52106;NP_001252517;NP_003405;Q14586;XP_006721068 Hs.460645 1677893;1701600 RH104437;RH70917 HZF2 zinc finger (C2H2);zinc finger protein 2;zinc finger protein HZF2 protein-coding ENSG00000185947 HGNC:13060 06883 604752 VALIDATED 1352902 ZNF266 zinc finger protein 266 This gene encodes a protein containing many tandem zinc-finger motifs. Zinc fingers are protein or nucleic acid-binding domains, and may be involved in a variety of functions, including regulation of transcription. This gene is located in a cluster of similar genes encoding zinc finger proteins on chromosome 19. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012] 19 19 19 p13.2 9418730 9441693 - 9523102 9546254 - 9412426 9435578 - 1580863;6480464;8554872 12477932;14702039;15489334;16344560;16628192;17210253;19763908;20601676;21468593;21874239;21900206;22505724;7865130 10781 K7EQP7;Q14584 AB095928;ABBA01029976;ABBA01029977;ABBA01029978;AC011451;AK027480;AL533858;AL833471;AL833503;AMYH02035466;AY376240;BC017407;BC071628;BC112919;BC126255;BC143940;BC146837;BQ015374;BX471437;BX472300;CH471106;CN484252;DA735170;NM_001271314;NM_006631;X78924;XM_005259713;XM_005259714;XM_005259716;XM_006722620;XM_006722621;XM_006722622;XM_006722623;XM_006722624;XM_006722625;XM_006722626;XM_006722627;XM_006722628;XM_006722629;XM_006722630 AAH17407;AAH71628;AAI12920;AAI26256;AAI46838;AAQ82907;ABZ92299;ADR83205;BAC23104;CAA55524;EAW84033;EAW84034;EAW84035;EAW84036;NP_001258243;NP_006622;Q14584;XP_005259770;XP_005259771;XP_005259773;XP_006722683;XP_006722684;XP_006722685;XP_006722686;XP_006722687;XP_006722688;XP_006722689;XP_006722690;XP_006722691;XP_006722692;XP_006722693 Hs.656185;Hs.743560 1770185;1848692;2110079;2174504;5016478;5022450;5022578;5109281 A008Z15;D10S275;D1S1423;D1S1425;GDB:434012;RH66800;SHGC-33755;ZNF266_9178 HZF1 zinc finger protein 1;zinc finger protein HZF1 APPROVED protein-coding ENSG00000174652 HGNC:13059 06882 604751 REVIEWED 1348682 ZNF264 zinc finger protein 264 This gene encodes a zinc finger protein and belongs to the krueppel C2H2-type zinc-finger protein family. Zinc finger proteins are often localized in the nucleus, bind nucleic acids, and regulate transcription. [provided by RefSeq, Jan 2010] 19 19 19 q13.4 54746160 54777510 + 57702868 57734214 + 57191480 57222846 + 1580863;6480464 11543637;12477932;14702039;15057824;15592455;16341674;16344560;19322201;20562864;21732829;22505724;9455477 9422 M0QXF3;M0QZJ4;M0QZT5;M0R146;O43296 AB007872;ABBA01020815;ABBA01020816;AC005261;AC025588;AK097167;AK292504;AMYH02036510;BC115410;BC115411;BF063192;BM739537;BQ020432;CH471135;DA331461;NG_016432;NM_003417;XM_005259430;XM_006723507;XR_243970 AAF42766;AAI15411;AAI15412;BAA24842;BAF85193;EAW72483;EAW72484;NP_003408;O43296;XP_005259487;XP_006723570 Hs.515634 1644384;1698618;1730305;1855254;2133252;2167995;5015861;5015961;5020740;5020946;5022588;5037552;5109663;7185938;7186485 A006Q12;D10S16;D15S1477;D19S230E;D19S600;D19S660E;D5S1597E;D7S2067E;D8S2279;L17809;L17971;RH102864;SHGC-54207 APPROVED protein-coding ENSG00000083844 HGNC:13057 05237 604668 REVIEWED 1347350 ZNF268 zinc finger protein 268 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN cellular response to tumor necrosis factor; negative regulation of apoptotic process; negative regulation of cell cycle arrest; FOUND IN cytoplasm; nucleus; INTERACTS WITH disodium selenite; ethyl methanesulfonate; formaldehyde 12 12 12 q24.33 133458293 133483993 + 133757995 133783698 + 133181409 133207112 + 1580863;6480464 11311945;12477932;12822888;14702039;15146197;15547661;16344560;16735226;16787922;16865230;18375384;18677094;18774934;18949428;22235304;23091055;23665872;7865130 10795 E7EV44;F5H1T2;F5H467;F5H670;F5H6R9;F5H7L3;F5H848;K7EIF0;K7EMS6;K7EQP6;Q14587;Q2TB61 ABBA01042527;ABBA01042528;AC026786;AC226150;AF141655;AF317549;AF385187;AF432217;AK027712;AMYH02027598;AW138703;AY583691;BC058548;BC110542;CH471218;CN255799;DB079580;DQ057356;DQ057357;DQ057358;DQ057359;DQ057360;DQ057361;KC877507;NM_001165881;NM_001165882;NM_001165883;NM_001165884;NM_001165885;NM_001165886;NM_001165887;NM_003415;NM_152943;X78926 AAG39638;AAG59817;AAI10543;AAK69307;AAL99923;BAG51369;CAA55526;EAW54786;EAW54787;EAW54788;EAW54789;NP_001159353;NP_001159354;NP_001159355;NP_001159356;NP_001159357;NP_001159358;NP_001159359;NP_003406;NP_694422;Q14587 Hs.124047 1736240;2171345 D12S1186E;D12S2117 HZF3;MGC126498 OTTHUMP00000237414;OTTHUMP00000237415;OTTHUMP00000237417;OTTHUMP00000237419;zinc finger protein 3;zinc finger protein HZF3 protein-coding HGNC:13061 05300 604753 VALIDATED 1344423 ZNF271P zinc finger protein 271, pseudogene Zinc finger proteins interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, Apr 2004] 18 18 18 q12 29678140 29698629 + 32870236 32890730 + 35290272 35310766 + 1580863;6480464 11777961;12477932;14702039;15489334;16344560;7865130 10778 Q14591 ABBA01022450;AC011815;AC116447;AF159567;AK023456;AK094216;AMYH02034551;BC004510;BC017710;BJ990003;BM992306;DA005750;DA179133;DA493437;NR_024565;NR_024566;X78930 AAD43569;ABZ92298;BAG51196;CAA55530 Hs.314246 1685181;1734596;1752241;1854057;1854059 A005X10;D18S945E;G20565;RH93256;SHGC-106165 HZF7;ZNFEB APPROVED pseudo ENSG00000257267 HGNC:13065 06884 604754 VALIDATED 1349173 ZNF279 zinc finger protein 279 10591208 23748 HGNC:13072 1347058 ZNF275 zinc finger protein 275 This gene encodes a zinc finger protein that appears to be conserved in eutheria. Its function has not yet been established. [provided by RefSeq, Jul 2010] X X X q28 152832580 152851303 + 152599613 152618384 + 153334155 153352926 + 1580863;6480464;8554872 10854409;12477932;14702039;18029348 10838 A6NFS0;Q9NSD4 ABBA01023734;ABBA01023735;ABBA01023736;ABBA01023737;AC152007;AC152008;AK122976;AK127133;AK172795;AL833683;AMYH02040833;BC001545;BC018767;BC041602;BC136634;CH471172;KF459501;NG_021432;NM_001080485;XM_005274644;XM_005274645 AAI36635;BAG53829;EAW72883;NP_001073954;Q9NSD4;XP_005274701;XP_005274702 Hs.348963 1660074;1702830;2119140;2139747;2139749;2218890 A005L01;DXS15;G20296;STS-H26680;WI-17149;ZNF275__4803 OTTHUMP00000070458 APPROVED protein-coding ENSG00000063587 HGNC:13069 VALIDATED 1347715 ZNF274 zinc finger protein 274 This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008] 19 19 19 qter 55738321 55768855 + 58694356 58724928 + 58182989 58213562 + 1580863;6480464;6907045;8554872 10520746;10545116;10777669;12477932;14702039;15489334;15498874;16344560;16954381;17474147;17512541;18029348;20562864;21170338;24128372;8125298 10782 M0QXW4;M0QY30;Q96GC6 AB029149;AB029150;ABBA01020779;ABBA01020780;ABBA01020781;AC008751;AC020915;AF275680;AF275681;AK022328;AK095162;AK222855;AK222878;AK295036;AK296929;AK297466;AK307906;AK316429;AMYH02036530;AMYH02036531;BC009763;BT007304;BX641169;CA942346;CH471135;DA050458;DC362701;DC366107;KC877757;KF573653;NM_001278734;NM_001278735;NM_016324;NM_016325;NM_133502;U71598 AAB16810;AAG24390;AAG24391;AAH09763;AAP35968;BAA88522;BAA88523;BAG58090;BAG59481;BAG59888;BAH14800;CAE46074;EAW72565;EAW72566;EAW72567;NP_001265663;NP_001265664;NP_057408;NP_057409;NP_598009;Q96GC6 Hs.83761 1678019;1766307;2218670;5015861;5024039;7185938 D10S16;D16S325;RH80850;SHGC-149655;ZNF274__4802 DKFZp686K08243;FLJ37843;HFB101;ZF2;ZKSCAN19;ZSCAN51 KRAB zinc finger protein HFB101;neurotrophin receptor-interacting factor homolog;zinc finger protein HFB101;zinc finger protein with KRAB and SCAN domains 19;zinc finger protein zfp2 APPROVED protein-coding ENSG00000171606 HGNC:13068 05682 605467 REVIEWED 1316415 ZNF263 zinc finger protein 263 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of transcription, DNA-templated (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; microtubule cytoskeleton; nucleus; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; cyclosporin A 16 16 16 p13.3 3539149 3547122 + 3333380 3351401 + 3283380 3299424 + 1580863;6480464;8554872 12477932;15489334;15616553;16189514;18029348;19887448;20211142;8586417;9256059 10127 B4DI05;D3DUC1;I3L0N0;I3L2X3;I3L393;I3L4C4;I3L538;I3NI39;O14978 ABBA01026739;AC004232;AK312421;AMYH02031288;BC008805;CH471112;D88827;NM_005741;XM_005255031;XM_006720831;XM_006720832;XM_006720833;XM_006720834;XM_006720835 AAC24490;AAH08805;ADZ15706;BAA21853;BAG35331;EAW85378;EAW85379;EAW85380;NP_005732;O14978;XP_005255088;XP_006720894;XP_006720895;XP_006720896;XP_006720897;XP_006720898 Hs.611475 1737593;2110077;2112890;2138812;2138814 A001U12;D16S2676;D16S3374;G19656;ZNF263_9047 FPM315;ZKSCAN12;ZSCAN44 OTTHUMP00000159669;zinc finger protein FPM315;zinc finger protein with KRAB and SCAN domains 12 protein-coding ENSG00000006194 HGNC:13056 05008 604191 VALIDATED 1347609 ZNF280 zinc finger protein 280 10591208 23747 HGNC:13074 1353791 ZNF277 zinc finger protein 277 ENCODES a protein that exhibits metal ion binding (inferred); RNA polymerase II core promoter sequence-specific DNA binding (inferred); INVOLVED IN cellular response to hydrogen peroxide (inferred); regulation of cellular senescence (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; cisplatin; cobalt dichloride 7 7 7 q31.1 106658932 106796266 + 111846643 111983989 + 112206588 112343934 + 1580863;6480464;8554872 10860669;11597177;12477932;12690205;12853948;16213364;16344560;16395595;16713569;17353931;19460752;20211142;22505724;22747683 11179 C9J3B6;C9JH62;E7EW13;F8WBE4;G5E9M4;H7C460;Q9NRM2 ABBA01057850;AC004111;AC004112;AC087539;AF209198;AF308819;AK027128;AK314630;AL713791;AMYH02016582;AMYH02016583;BC020626;BG924796;CH236947;CH471070;CS300564;DA285525;DB543718;NM_021994;XM_005250129 AAF85941;AAH20626;AAL55819;AAS07407;AAS07408;AAS07413;BAG37195;CAD28546;CAK32228;EAL24376;EAW83457;EAW83458;EAW83459;EAW83460;EAW83461;NP_068834;Q9NRM2;XP_005250186 Hs.655904 1688907;1690378;1735576;2123619;2142202;2162651;2162653;5109281;5125733 A004D18;A005X13;D1S1425;D5S1689E;G20568;RH46316;RH91911;RH92053;STS-N27946 NRIF4;ZNF277P OTTHUMP00000196615;OTTHUMP00000207268;nuclear receptor-interacting factor 4;zinc finger protein (C2H2 type) 277;zinc finger protein 277 pseudogene protein-coding HGNC:13070 05680 605465 VALIDATED 1351261 ZNF273 zinc finger protein 273 This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with 13 C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 7 7 7 q11.21 58082673 58111037 + 64363620 64391955 + 64893170 64931577 + 1580863;6480464 12477932;14702039;15489334;16344560;20211142;21890473;21988832;22505724;7865130;9847074 10793 E9PL30;Q14593;Q75LP1 ABBA01027987;ABBA01027988;AC092161;AK090648;AL832810;AMYH02015859;AMYH02015860;BC007078;BC008386;BC019234;BC041102;BC063818;BC108740;CH471204;DA324061;DA807335;KF458470;NM_021148;NR_003099;X78932;XM_006715840;XM_006715841 AAH08386;AAH19234;AAH63818;AAQ93371;AAQ93372;BAG52207;CAA55532;EAW77992;EAW77993;EAW77994;NP_066971;Q14593;XP_006715903;XP_006715904 Hs.520889 1677784;1694730;1772306;2110083;2123094;2175663;2220430;2220626;5015619;5022578;5022649;5037552;5113020 D11S2875;D11S3114;D1S1423;D7S734;D8S2279;G43561;GDB:1318354;RH40697;RH80873;SHGC-52453;UniSTS:481985;UniSTS:486333;ZNF273_9180 HZF9;MGC12518 OTTHUMP00000194761;zinc finger protein 9;zinc finger protein HZF9 APPROVED protein-coding HGNC:13067 07264;14424 604756 REVIEWED 1342488 ZNF280A zinc finger protein 280A This gene encodes a zinc finger protein. The encoded protein contains 4 C2H2-type zinc fingers, which are commonly found in transcription factors. A variety of functions may be performed by this type of zinc finger protein, including the binding of DNA or RNA. [provided by RefSeq, Apr 2014] 22 22 22 q11.22 6675962 6682496 - 22868060 22874613 - 22513736 22520270 - 1580863;6480464 10591208;12477932;14702039;15489334;23455924;9074928 129025 B3KS93;P59817 ABBA01055085;AC246793;AK093108;BC053901;BG473533;BP283207;CH471095;D87009;D87011;NG_000002;NM_080740 AAH53901;ADR82757;BAA20006;BAA20008;BAG52655;EAW59517;NP_542778;P59817 Hs.178665 3'OY11.1;SUHW1;ZNF280;ZNF636 OTTHUMP00000028764;suppressor of hairy wing homolog 1;zinc finger protein 280;zinc finger protein 636 APPROVED protein-coding ENSG00000169548 HGNC:18597 18129 REVIEWED 1352869 ZNF28 zinc finger protein 28 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; arsenous acid; atrazine 19 19 19 q13.41 50350064 50374196 - 53300661 53324922 - 52797408 52821669 - 1580863;6480464;8554872 12477932;14702039;15146197;21890473;21906983;22505724;2288909;23000965;24250222;8262519 7576 C9K0H3;F8WBV3;M0QXU3;M0R0U4;P17035 ABBA01068234;ABBA01068235;ABBA01068236;ABBA01068237;ABBA01068238;ABBA01068239;AC008813;AK091553;AK092385;AK131368;AK131574;AK293074;AK304704;AMYH02036409;AMYH02036410;BC070146;BC140720;BX485233;BX489697;BX640767;CH471135;CN263784;CR933598;KF456606;NM_006969;NR_036599;NR_036600;X52355;XM_006723354;XM_006723355;XM_006723356;XM_006723357 AAH70146;AAI40721;BAD18519;BAD18706;BAF85763;BAG65472;CAA36581;CAI45923;CAI46258;EAW72097;EAW72098;NP_008900;P17035;XP_006723417;XP_006723418;XP_006723419;XP_006723420 Hs.732407 1678549;1690290;2109009;2173688 RH39093;RH65111;STS-R41911;ZNF28__4805.2 DKFZp781D0275;KOX24 OTTHUMP00000206113;OTTHUMP00000206114;zinc finger protein 28 (kox 24);zinc finger protein KOX24 protein-coding ENSG00000198538 HGNC:13073 18507 VALIDATED 1348223 ZNF280B zinc finger protein 280B This gene was identified by homology to other species. Its encoded protein is approximately 78-88% identical to a predicted sheep protein of unknown function. The protein is also approximately 25% identical to the Drosophila protein suppressor of hairy wing, which is a leucine zipper protein that represses the function of transcriptional enhancers of the gypsy retrotransposon. [provided by RefSeq, Jul 2008] 22 22 22 q11.22 6646667 6671408 - 22838767 22863505 - 22484421 22509187 - 1580863;6480464 10591208;12477932;14702039;15461802;15489334;19322201;22219177;22990118;24236047;24250222;9074928 140883 B3KUN2;Q86YH2 ABBA01055084;ABBA01055085;AC009286;AC245291;AC246793;AK097608;BC035376;BC040020;BC042370;CH471095;CR456614;D87009;NG_000002;NM_080764;XM_005261338;XM_006725400;XM_006725401 AAH40020;ACE86619;ACE87300;BAA20005;BAG53494;CAG30500;CAK54642;CAK54941;EAW59515;EAW59516;NP_542942;Q86YH2;XP_005261395;XP_006725463;XP_006725464 Hs.43834 1679622;1778615;2106663;2129446;2181189 RH45724;RH93749;SHGC-57080;STS-N26665;SUHW2__5350 5'OY11.1;D87009.C22.3;SUHW2;ZNF279;ZNF632 OTTHUMP00000199058;suppressor of hairy wing homolog 2;zinc finger protein 279;zinc finger protein 632 APPROVED protein-coding ENSG00000275004 HGNC:23022 11615 REVIEWED 1349297 ZNF280C zinc finger protein 280C This gene encodes a member of the zinc finger domain-containing protein family. This family member contains multiple Cys2-His2(C2H2)-type zinc finger domains, the most common type of zinc finger domain that self-folds to form a beta-beta-alpha structure that binds a zinc ion. [provided by RefSeq, Aug 2011] X X X q26.1 129723156 129789417 - 129336673 129402922 - 130202699 130268948 - 737633;1580863;6480464;8554872 12477932 11361095;14702039;15489334;15772651;16344560;17210253;18253864;19132878;19471022;21139048;21693764;21890473;21963094;21987572;22412018;22505724;24654937 55609 Q8ND82;Q9UJJ2 AA805654;ABBA01047904;ABBA01047905;ABBA01047906;ABBA01047907;ABBA01047908;ABBA01047909;AK000102;AK290373;AL023799;AL133204;AL139234;AL834333;AMYH02040478;AMYH02040479;AMYH02040480;BC051728;CH471107;DA441065;DR003059;KF459399;NG_021388;NM_017666;XM_006724765 AAH51728;BAA90947;BAF83062;CAB61579;CAD39001;EAX11805;EAX11806;EAX11807;NP_060136;Q8ND82;XP_006724828 Hs.308418 1690212;5014051;5037552 D8S2278;D8S2279;DXS7836 FLJ20095;SUHW3;ZNF633 OTTHUMP00000024010;OTTHUMP00000024011;suppressor of hairy wing homolog 3;zinc finger protein 633 APPROVED protein-coding ENSG00000056277 HGNC:25955 06526 VALIDATED 1312996 ZNF281 zinc finger protein 281 ENCODES a protein that exhibits sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; INVOLVED IN negative regulation of gene expression; negative regulation of transcription, DNA-templated; positive regulation of transcription, DNA-templated; FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; 3-methylcholanthrene; copper(2+) sulfate 1 1 1 q32.1 173498045 173501791 - 200374075 200379186 - 200404947 200410058 - 1580863;6480464 10405178;10448078;12477932;12771217;14702039;15342556;15489334;16009940;16344560;17314511;17761849;18029348;18757296;18781797;19147588;19322201;19471022;20306291;20811636;21139048;21693764;21906983;21963094;21987572;21988832;22678362;22939629;23287719;23602568;24185900;24250222;24654937;24816145 23528 B3KMX4;Q9Y2X9 ABBA01027552;AC104461;AF086540;AF125158;AJ132591;AJ132592;AK021707;AK022916;AK022921;AK027284;AK094701;AK297233;AMYH02002463;BC016000;BC051905;BC060820;BG611294;BP216938;BQ012001;BQ013454;CH471067;CQ834814;DB150929;NM_001281293;NM_001281294;NM_012482 AAD21084;AAH51905;AAH60820;BAG51134;BAG51136;BAG51299;BAG59716;CAB70967;CAB70968;CAH05622;EAW91313;NP_001268222;NP_001268223;NP_036614;Q9Y2X9 Hs.59757;Hs.703449;Hs.735801 1770111;1854105;2162052;2218892 A007J21;RH47383;RH71424;ZNF281__4806 FLJ12859;FLJ14378;ZBP-99;ZNP-99 GC-box-binding zinc finger protein 1;OTTHUMP00000033837;OTTHUMP00000033838;ZNP-99 transcription factor;transcription factor ZBP-99;zinc finger DNA-binding protein 99 protein-coding ENSG00000162702 HGNC:13075 11702 VALIDATED 1345575 ZNF284 zinc finger protein 284 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH crotonaldehyde; trichostatin A; valproic acid 19 19 19 q13.31 41380433 41395759 + 44576297 44591623 + 44072144 44087470 + 6480464 12743021;16817023;22505724 342909 Q2VY69 ABBA01040874;AC084219;AK308295;AMYH02036176;AMYH02036177;AY166789;AY458845;CR936662;NM_001037813;XM_005258859;XM_006723187 AAI56664;AAO45838;AAS13443;NP_001032902;Q2VY69;XP_005258916;XP_006723250 Hs.445395;Hs.720813 1777203;5022578 D1S1423;STS-U46189 DKFZp781F1775;ZNF284L protein-coding HGNC:13078 PROVISIONAL 1354182 ZNF283 zinc finger protein 283 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsenous acid; cyclosporin A; diarsenic trioxide 19 19 19 q13.31 41135012 41156588 + 44331445 44353050 + 43827293 43848898 + 1580863;6480464 12477932;12743021;14702039;23535729;7865130 284349 K7EJ77;K7EL69;K7EPC6;K7ES18;K7ESH0;Q4G0N1;Q8N7M2 ABBA01040870;AC011508;AI753038;AK098175;AK294852;AMYH02036174;AY166784;AY500359;AY500364;BC045755;BE261849;DC324604;DC384756;NM_001297752;NM_181845;XM_005258784;XM_005258785;XM_005258786;XM_005258787;XM_006723158 AAH45755;AAI67809;AAO45833;AAS55109;AAS55114;ADR83378;BAC05251;BAG57956;NP_001284681;NP_862828;Q8N7M2;XP_005258841;XP_005258842;XP_005258843;XP_005258844;XP_006723221 Hs.652513 2219766 ZNF283__4808 HZF19;HZF41 zinc finger protein 41;zinc finger protein HZF19 protein-coding ENSG00000167637 HGNC:13077 VALIDATED 1342926 ZNF285 zinc finger protein 285 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH atrazine; cyclosporin A; fonofos 19 19 19 41693843 41709808 - 44889808 44905777 - 44385646 44401611 - 1580863;6480464;8554872 12477932;12743021;14702039;16344560;23049088;24250222 26974 B7ZLR9;K7EIK6;K7EQE9;K7ERT5;Q96NJ3 ABBA01040877;AC138473;AC245748;AK055309;AL833447;AY166790;BC069384;BC074824;BC074875;BC117300;BC117302;BC143984;BF343511;BM987858;CH471126;DA202784;DA793212;DA949487;NM_001291488;NM_001291489;NM_001291490;NM_001291491;NM_152354;XM_005258734;XM_005258735;XM_005258736;XM_006723138 AAH69384;AAH74824;AAH74875;AAI17301;AAI17303;AAI43985;AAO45839;BAB70901;EAW57270;EAW57271;EAW57272;NP_001278417;NP_001278418;NP_001278419;NP_001278420;NP_689567;Q96NJ3;XP_005258791;XP_005258792;XP_005258793;XP_006723201 Hs.709428 5037552;5492675 D8S2279;UniSTS:481999 FLJ30747;ZNF285A zinc finger protein 285A APPROVED protein-coding ENSG00000267508 HGNC:13079 15759 VALIDATED 1316682 ZNF276 zinc finger protein 276 ENCODES a protein that exhibits DNA binding (inferred); nucleic acid binding (inferred); zinc ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Fanconi Anemia (inferred); FOUND IN nucleus (inferred); INTERACTS WITH lead(0); lead(2+); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 q24.3 74851642 74871575 + 89786393 89807333 + 89720195 89740925 + 1580863;6480464;8554872 10936049;12477932;14605947;14702039;15489334;16189514;16344560;16713569;20813266;8889548 92822 A8K186;H3BPJ6;H3BPT7;H3BTK0;H3BTT0;I6L9I3;Q8N554 ABBA01014134;AC005360;AC010538;AI283548;AK026482;AK056405;AK096004;AK096762;AK289801;AK295770;AK315793;AMYH02032680;AW179154;BC032781;BC038839;BC105959;BC107603;BC110348;BC111408;BM921035;BM972950;BQ432535;BQ549716;CH471184;DA227038;DA523531;DA891371;HY040533;NM_001113525;NM_152287;NR_110122;NR_110126;NR_110128;NR_110129;XM_005256324;XM_005256328;XM_006721337;XR_243507;XR_429740 AAH32781;AAI05960;AAI07604;AAI10349;ABZ92087;ACE86611;ACE87292;BAF82490;BAG51699;BAG58595;EAW66687;EAW66688;EAW66689;EAW66690;EAW66691;EAW66692;EAW66693;NP_001106997;NP_689500;Q8N554;XP_005256381;XP_005256385;XP_006721400 Hs.290154 1795812;1851516;2124497;2166139;5022578;5037552;5118802 A008X39;D11S3665;D1S1423;D8S2279;FANCA_1338;SHGC-60782;SHGC-61164 CENP-Z;CENPZ;FLJ38685;FLJ77809;MGC111410;MGC126480;MGC45417;ZADT;ZFP276;ZNF477 OTTHUMP00000175353;centromere protein Z;zfp-276;zinc finger protein 276 homolog;zinc finger protein 276 homolog (mouse);zinc finger protein 477;zinc finger, AD-type protein-coding ENSG00000158805 HGNC:23330 12235 608460 VALIDATED 2303455 ZNF285B zinc finger protein 285B, pseudogene 19 19 19 q13.31 41772408 41781574 + 44968405 44977566 + 44464182 44473358 + 18957941 147711 ABBA01040878;AC069278;AC138473;AC245748;NG_009596 APPROVED pseudo HGNC:33262 INFERRED 1350825 ZNF286A zinc finger protein 286A ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene; cadmium atom; copper(2+) sulfate 17 17 17 p11.2 674 2337 - 15602891 15624101 + 15699577 15720787 + 1580863;6480464 11347906;12168954;12477932;14702039;15342556;16344560;24250222;8889548;9027492 57335 A1A525;A8MTT8;B2RCD9;J3KRD3;J3KRF9;J3KRV6;J3KSJ1;J3KSW0;J3QQV4;K7ENW2;K7EQ88;Q9HBT8 ABBA01000299;ABBA01002171;AC005324;AF086305;AF217226;AK021478;AK055651;AK092259;AK315062;AMYH02033057;BC015730;BC025260;BC128259;BC128411;BP193773;BU687070;DA096356;DA188283;DA748526;DA786711;DA796080;DA806764;DC344287;DN997307;NM_001130842;NM_001288642;NM_001288643;NM_001288644;NM_001288645;NM_001288646;NM_001288647;NM_001288648;NM_001288649;NM_020652 AAG09701;AAI28260;AAI28412;BAG37536;BAG52512;NP_001124314;NP_001275571;NP_001275572;NP_001275573;NP_001275574;NP_001275575;NP_001275576;NP_001275577;NP_001275578;NP_065703;Q9HBT8 Hs.585799;Hs.659318 1676884;1734442;1849028;5109281 A004N16;D17S1412E;D1S1425;RH18308 KIAA1874;MGC149627;MGC156181;ZNF286 OTTHUMP00000065084;OTTHUMP00000065208;zinc finger protein 286;zinc finger protein ZNF286 protein-coding ENSG00000187607 HGNC:13501 15760 VALIDATED 1318494 ZNF287 zinc finger protein 287 This gene encodes a member of the krueppel family of zinc finger proteins, suggesting a role as a transcription factor. Its specific function has not been determined. This gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16356542 16375435 - 16453626 16472520 - 16550312 16569206 - 1580863;6480464 11021307;11137451;12477932;15489334;16169070;22505724;24250222;8889548 57336 C9JAV4;Q6PEZ3;Q9HBT7 ABBA01035647;ABBA01035648;AC127540;AF027140;AF217227;AL359578;AMYH02033079;BC032002;BC041159;BC057791;BC101487;BC113363;BM685282;BM979793;CH471222;CR457194;DB514422;NM_020653;XM_005256743;XM_006721561 AAB84019;AAG09702;AAH57791;AAI01488;AAI13364;ABZ92027;CAG33475;EAX04518;NP_065704;Q9HBT7;XP_005256800;XP_006721624 Hs.99724 2218674;5015861;7185938 D10S16;ZNF287__4811 MGC126536;MGC141923;ZKSCAN13;ZSCAN45 OTTHUMP00000064976;OTTHUMP00000064977;zinc finger protein with KRAB and SCAN domains 13 APPROVED protein-coding HGNC:13502 11703 VALIDATED 2305380 ZNF295-AS1 ZNF295 antisense RNA 1 INTERACTS WITH benzo[a]pyrene 21 21 21 q22.3 28589648 28592595 + 43442113 43445060 + 42022004 42024951 + 6480464 12477932;14702039;15489334;23551011 150142 Q8N0V1 ABBA01014179;AK055167;AMYH02037870;AP001620;BC029588;BC061917;BI464310;CH471079;DB455362;HY004634;KF495992;NR_027273;NR_119384;NR_119385 EAX09578;Q8N0V1 Hs.143833;Hs.626078 C21orf121;NCRNA00318;PRED87 APPROVED ncrna HGNC:23130 10735 VALIDATED 1343580 ZNF296 zinc finger protein 296 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN spermatogenesis (ortholog); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; cadmium atom; formaldehyde 19 19 19 q13.32 42379045 42383975 - 45574758 45579688 - 45071500 45076430 - 1580863;6480464 11063263;12477932;14633674;15489334;19255975 162979 Q8IX33;Q8WUU4 ABBA01040909;ABBA01040910;AC011489;AF447583;AMYH02036189;AMYH02036190;AY040679;BC019352;CH471126;NM_145288 AAH19352;AAK84667;AAN76720;EAW57320;NP_660331;Q8WUU4 Hs.192237 ZFP296;ZNF342 zinc finger protein 342 protein-coding ENSG00000170684 HGNC:15981 15782 613226 PROVISIONAL 1354082 ZNF292 zinc finger protein 292 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN positive regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; clorgyline 6 6 6 q14.3 88284009 88392094 + 87865269 87973926 + 87155551 87264196 + 1580863;6480464;8554872 10687855;12477932;14702039;15174051;16112646;16303260;16344560;18854154;21116278;21139048;22944692;9628581 23036 E5RFE6;E5RJG2;H0YAU0;H0YB79;J3KNV1;O60281;Q3LIB3;Q6P495;Q6ZS01;Q6ZW83 AB011102;AB075508;ABBA01040491;ABBA01040492;AK023626;AK023712;AK123473;AK127835;AL139274;AL832366;AMYH02014053;AY684300;BC016386;BC040712;BC043168;BC063594;BX537746;CH471051;DA329523;NM_015021;XM_005248697;XM_005248698 AAH63594;AAI72360;AAV86070;BAA25456;BAB14622;BAB14654;BAC85621;BAC87155;BAE45755;CAD97823;EAW48607;EAW48608;NP_055836;O60281;XP_005248754;XP_005248755 Hs.485892;Hs.656621 1652924;1668432;1673167;1685492;1689009;1696024;1754429;1760155;1786104;1850781;1854119;2113830;2128203;2149627;2161954;2164261;2178632;2186402;2187092;5022651 1622;D11S2921;D6S1327;D6S1857;D6S1893;KIAA0530;RH36585;RH47315;RH66598;RH92843;SHGC-132180;SHGC-132481;SHGC-172006;SHGC-32881;SHGC-52432;SHGC-64105;SHGC-83164;STS-N33849;WI-18053;WI-21240 FLJ13564;FLJ41479;KIAA0530;Nbla00365;ZFP292;ZN-16;Zn-15;bA393I2.3 16 zinc-finger domain protein;OTTHUMP00000016826;OTTHUMP00000225270;putative protein product of Nbla00365 protein-coding ENSG00000188994 HGNC:18410 VALIDATED 1354213 ZNF299 zinc finger protein 299 pter-qter 8034323 89767 X73895 protein-coding HGNC:13087 1352271 ZNF299P zinc finger protein 299, pseudogene 21 21 21 q21.1 9643671 9645338 - 24462793 24464066 - 23090471 23091744 - 10830953;8034323 54012 ABBA01057186;AMYH02037622;AP001116;AP001686;NG_000898;X73895 ZNF299;ZNF299P1 APPROVED pseudo HGNC:13088 INFERRED 1350738 ZNF29P zinc finger protein 29, pseudogene 17 17 p12 15578790 15578957 + 15675476 15675643 + 1580863 2004757;2288909 7577 ABBA01035680;AC005324;AC018989;AMYH02033057;NG_007542;X52357 CAA36583 Hs.684886 KOX26;ZNF29 zinc finger protein 29 (kox 26) APPROVED pseudo HGNC:13080 194535 INFERRED 1314806 ZNF282 zinc finger protein 282 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN negative regulation of transcription, DNA-templated (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; cadmium atom; cobalt dichloride 7 7 7 q36.1 143561753 143592540 + 148892560 148923339 + 149195472 149226248 + 1580863;6480464 12477932;12690205;12853948;15489334;15790807;20379614;21693764;21890473;21900206;21906983;21963094;22986521;8889548;9396811;9847074 8427 Q9UDV7 AACC02000041;ABBA01033625;ABBA01033626;AC004890;AK299280;AK316282;AMYH02017042;AMYH02017043;AY927504;AY927505;BC009542;BC031686;BC041704;BC055287;BC073805;BU731447;CH471146;CV573257;D30612;KF510994;NM_003575;XM_006716151 AAH31686;AAH41704;AAH55287;AAH73805;BAA24380;BAG61297;BAH14653;EAL24430;EAW80055;EAW80056;NP_003566;Q9UDV7;XP_006716214 Hs.729056 1649678;1788614;2142617 RH127077;RH65667;SHGC-57902 HUB-1;HUB1 HTLV-I U5 repressive element-binding protein 1;HTLV-I U5RE-binding protein 1;OTTHUMP00000213781;OTTHUMP00000213782 protein-coding ENSG00000170265 HGNC:13076 04549 603397 VALIDATED 1323434 ZNF280D zinc finger protein 280D ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; clorgyline; copper(2+) sulfate 15 15 15 q21.3 33811748 33915181 - 56922374 57026279 - 56630176 56734086 - 737633;6480464;8554872 12477932 10997877;11076863;11230166;14702039;15489336;16341674;16381901;20562864;20798984;21888893;21963094;22797925;22990118;8889548 54816 H0YL38;H0YLA6;H0YN90;Q6N043 AB046804;ABBA01039001;AC090517;AC090518;AK000093;AK025073;AK289739;AK295159;AK310882;AL136634;AMYH02030512;AMYH02030513;AMYH02030514;BC015382;BC040532;BC053649;BC064359;BC130451;BC136412;BM795112;BU689457;BX640637;BX640707;BX641000;CH471082;CX788386;NM_001002843;NM_001002844;NM_001288588;NM_001288589;NM_017661;XM_005254481;XM_005254483;XM_005254484;XM_005254485;XM_006720581;XR_243105 AAH15382;AAH53649;AAH64359;AAI30452;AAI36413;BAA90940;BAB13410;BAB15059;BAF82428;BAG58173;CAB66569;CAE45785;CAE45827;CAE46003;CAL37528;CAL38620;EAW77504;EAW77505;EAW77506;EAW77507;EAW77508;NP_001002843;NP_001002844;NP_001275517;NP_001275518;NP_060131;Q6N043;XP_005254538;XP_005254540;XP_005254541;XP_005254542;XP_006720644 Hs.511477 1645992;1651907;1657207;1682417;1721625;1733668;1857751;2106665;2116722;2125927;2149775;2153930;2161337;2186062 A003N12;A008X30;D15S1225;D15S639E;D15S924;G59823;RH48191;RH68522;RH91225;SHGC-31420;SHGC-3236;SHGC-37375;SUHW4__5351;WI-21485 MGC21637;MGC61687;SUHW4;ZNF634 suppressor of hairy wing homolog 4;zinc finger protein 634 protein-coding ENSG00000137871 HGNC:25953 15448 VALIDATED 2299177 ZNF286B zinc finger protein 286B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cadmium atom; 3,4-methylenedioxymethamphetamine (ortholog); choline (ortholog) 17 17 17 p11.2 673 2192 - 18561742 18585572 - 18658429 18682259 - 6480464 12477932;16625196;21906983 729288 I3L365;I3L3U3;J3KS91;J3QKZ1;P0CG31 ABBA01035679;ABBA01035680;AC026271;AMYH02033116;NM_001145045 NP_001138517;P0CG31 Hs.534279 ZNF286C;ZNF286L;ZNF590 putative zinc finger protein 286B;zinc finger 286C pseudogene;zinc finger protein 590 APPROVED protein-coding ENSG00000249459 HGNC:33241 VALIDATED 8699461 ZNF30-AS1 ZNF30 antisense RNA 1 19 q13.11 34921374 34926826 - 12477932 102723513 AC008555;AMYH02035970;BC047554;HG510665;HY123988;HY139988;NR_110749;XR_430233;XR_433565 Hs.149702 ncrna HGNC:51179 VALIDATED 1345379 ZNF30 zinc finger protein 30 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; atrazine 19 19 19 q13.11 32131189 32149419 + 35417807 35436076 + 34926903 34945172 + 1580863;6480464 12477932;16344560;2288909;23602568;24250222 90075 P17039;V9GYJ2 ABBA01018727;AC008555;AK000569;AK290435;AK295515;AMYH02035970;AMYH02035971;AMYH02035972;BC142996;BX640666;DA504398;DA554380;DC314501;DC352784;NM_001099437;NM_001099438;NM_194325;NR_024018;X52359 AAI42997;BAF83124;BAG58432;CAA36585;CAE45802;NP_001092907;NP_001092908;NP_919306;P17039 Hs.657402 1669911;1680861;1706984;1721545;2121796;2166650 A006P11;G59777;RH48738;RH91716;SHGC-80991;STS-H09790 DKFZp686N19164;FLJ20562;KOX28 zinc finger protein 30 (KOX 28);zinc finger protein KOX28 protein-coding ENSG00000168661 HGNC:13090 15763 VALIDATED 1353778 ZNF301 zinc finger protein 301 21pter-qter 8034323 89769 X73897 ZF21-3 protein-coding HGNC:13092 1349700 ZNF300 zinc finger protein 300 The protein encoded by this gene is a C2H2-type zinc finger DNA binding protein and likely transcriptional regulator. The function of this protein is not yet known. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] 5 5 5 q33.1 146355280 146365871 - 150273954 150284545 - 150894383 150904983 - 1580863;6480464;8554872 12477932;14702039;14746915;15489334;16341674;16344560;17541838;17554300;18350257;20471086;20549515;20585888;21777376;22505724;23128233;24393131 91975 F8WE31;Q96RE9 ABBA01026269;AC010441;AF395541;AK026949;AK095642;AK096465;AK300528;AMYH02012464;BC032607;BC117248;BM824443;CH471062;CR933727;DA497503;DB094933;DC376791;DQ908918;NG_016866;NM_001172831;NM_001172832;NM_052860;XM_006714805;XM_006714806 AAI17249;AAK83888;ABI81769;ADR83084;BAG53297;BAG62240;CAI46270;EAW61698;EAW61699;EAW61700;EAW61701;EAW61702;NP_001166302;NP_001166303;NP_443092;Q96RE9;XP_006714868;XP_006714869 Hs.134885 2128424 SHGC-53373 DKFZp686B24204 OTTHUMP00000160554;OTTHUMP00000206798;kruppel-like zinc finger protein APPROVED protein-coding ENSG00000145908 HGNC:13091 15764 612429 REVIEWED 1345152 ZNF309 zinc finger protein 309 404540 HGNC:13856 1352206 ZNF304 zinc finger protein 304 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 19 19 19 q13.4 54906354 54914975 + 57862645 57871266 + 57351277 57359898 + 1580863;6480464 12051768;12477932;16344560 57343 E7EQD3;M0QZ59;Q2T9G7;Q2T9G8;Q9HCX3 ABBA01020812;AC005261;AJ276316;AMYH02036512;AMYH02036513;BC111531;BC111532;BP315423;CH471135;DA788435;NM_001290318;NM_001290319;NM_020657;XM_005259090 AAI11532;AAI11533;ABZ92361;CAC06610;EAW72493;EAW72494;NP_001277247;NP_001277248;NP_065708;Q9HCX3;XP_005259147 Hs.287374 MGC129703;MGC129704 protein-coding ENSG00000131845 HGNC:13505 15766 613840 VALIDATED 1348770 ZNF3 zinc finger protein 3 ENCODES a protein that exhibits identical protein binding; INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 3,3',5-triiodo-L-thyronine 7 7 7 q22.1 94396223 94414030 - 99661470 99680171 - 100063847 100082548 - 1580863;6480464 12477932;12690205;14702039;15489334;16344560;16751776;18029348;18255255;1945843;21555518;22505724;2288909;23824909;3380682 7551 C9J5S8;C9JE35;C9JIW8;C9JK31;F8WA60;P17036;Q86U76 ABBA01013238;ABBA01013239;AC073842;AC093619;AF027136;AF027139;AF193057;AF217988;AK000223;AK091984;AK297625;AK309719;AK315479;AMYH02016371;BC008031;BC011887;BC013603;BC025265;BQ071498;BT006918;BX647182;CA439866;CH236956;CH471091;CS185617;DA443888;DA623743;DC384519;HY096067;NM_001278284;NM_001278287;NM_001278290;NM_001278291;NM_001278292;NM_017715;NM_032924;X07290;X52356;X60153;XM_006716110;XM_006716111 AAB84015;AAB84018;AAG17231;AAG22485;AAH11887;AAH13603;AAP35564;ACE86962;ACE87652;BAA91019;BAG37863;BAG52456;BAH12633;CAA30269;CAA36582;CAB94195;CAH10562;CAJ42798;EAL23858;EAL23859;EAW76603;EAW76604;EAW76605;EAW76606;EAW76607;EAW76608;NP_001265213;NP_001265216;NP_001265219;NP_001265220;NP_001265221;NP_060185;NP_116313;P17036;XP_006716173;XP_006716174 Hs.435302 1656374;1687520;1725797;1741469;2116511;2127521;2135109;2141289;2146934;2167194;2174265;2218678;5037552 D8S2279;G62076;GDB:181232;GDB:4584975;GDB:4585163;GDB:6028554;RH16590;RH80109;SGC30599;SHGC-8018;STS-W89121;WI-13317;ZNF3__4813 A8-51;FLJ20216;HF.12;HZF3.1;KOX25;PP838;Zfp113 C2-H2 type zinc finger protein;OTTHUMP00000206232;OTTHUMP00000206970;OTTHUMP00000206972;OTTHUMP00000206973;OTTHUMP00000206974;OTTHUMP00000207034;OTTHUMP00000214592;zinc finger protein 3 (a8-51);zinc finger protein HF.12;zinc finger protein HZF3.1;zinc finger protein KOX25 protein-coding ENSG00000166526 HGNC:13089 01911 194510 VALIDATED 1344550 ZNF315P zinc finger protein 315 pseudogene 387030 HGNC:13845 1604963 ZNF311 zinc finger protein 311 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH amiodarone; trichostatin A; valproic acid 6 6 6 p22.1 30568704 30579147 - 28962562 28973037 - 28994785 29005606 - 6480464 10520746;12477932;14574404;17474147;18309376;19851445;22505724;24047820 282890 A8K1G6;Q5JNZ3 ABBA01038029;AK289881;AL662791;AL662865;AL833166;AL929561;AMYH02013405;AMYH02013406;BC136745;BC144385;BC144386;BX293545;BX927167;CH471081;CR759835;CR759957;NM_001010877;U71600;XM_005249019;XM_005249022;XM_005272794;XM_005272797;XM_005274848;XM_005274940;XM_005274943;XM_005275094;XM_005275097;XM_005275370;XM_005275373;XM_005275530;XM_005275533;XM_006715067;XM_006715068;XM_006715069;XM_006715070;XM_006725034;XM_006725035;XM_006725036;XM_006725037;XM_006725038;XM_006725479;XM_006725480;XM_006725481;XM_006725482;XM_006725693;XM_006725694;XM_006725695;XM_006725696;XM_006725811;XM_006725812;XM_006725813;XM_006725814;XM_006725992;XM_006725993;XM_006725994;XM_006725995;XM_006726082;XM_006726083;XM_006726084;XM_006726085;Z84476 AAB16812;AAI36746;BAF82570;CAB55432;EAX03178;NP_001010877;Q5JNZ3;XP_005249076;XP_005249079;XP_005272851;XP_005272854;XP_005274905;XP_005274997;XP_005275000;XP_005275151;XP_005275154;XP_005275427;XP_005275430;XP_005275587;XP_005275590;XP_006715130;XP_006715131;XP_006715132;XP_006715133;XP_006725097;XP_006725098;XP_006725099;XP_006725100;XP_006725101;XP_006725542;XP_006725543;XP_006725544;XP_006725545;XP_006725756;XP_006725757;XP_006725758;XP_006725759;XP_006725874;XP_006725875;XP_006725876;XP_006725877;XP_006726055;XP_006726056;XP_006726057;XP_006726058;XP_006726145;XP_006726146;XP_006726147;XP_006726148 Hs.148218 1710478;2220042 SHGC-86256;ZNF311__4816 zf31 OTTHUMP00000029428;zinc finger protein zfp-31;zinc finger protein zfp31 protein-coding ENSG00000197935 HGNC:13847 18325 PROVISIONAL 1351185 ZNF302 zinc finger protein 302 This gene encodes a member of the zinc-finger protein family. The encoded protein contains seven C2H2-type zinc fingers and a KRAB domain, but its function has yet to be determined. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2014] 19 19 19 q13.11 31880960 31889698 + 35168553 35177302 + 34677639 34686397 + 1580863;6480464 12477932;15489334;17207965;19019082;20562864;21145461;21549307;21988832;7865130 55900 B3KY96;B4DMN2;D6R9Q0;D6RA23;D6RAM0;E7EVR1;Q7Z4B9;Q8NC84;Q9NR11;V9GYY2 AB209226;ABBA01018726;AC020910;AF155656;AF190157;AF265236;AF326206;AI929099;AK074901;AK122855;AK131278;AK297551;AK315241;AL162002;AL515741;AL833690;AL834318;AMYH02035967;AY251166;AY500357;BC024176;BG926751;BI562204;DA297006;DA300773;DA487799;DA749741;DA773435;DA780378;DA790162;DA792042;DA793666;DB066674;DN997090;HY117192;NG_033997;NM_001012320;NM_001289181;NM_001289182;NM_001289183;NM_001289184;NM_001289185;NM_001289186;NM_001289187;NM_001289188;NM_001289189;NM_001289190;NM_001289191;NM_001289192;NM_018443;NM_018675;NR_110322 AAF67475;AAF74775;AAH24176;AAK11224;AAP20063;AAQ13701;AAS55107;ADQ31718;BAC11279;BAD92463;BAG53763;BAG54758;BAG59944;CAD38987;NP_001012320;NP_001276110;NP_001276111;NP_001276112;NP_001276113;NP_001276114;NP_001276115;NP_001276116;NP_001276117;NP_001276118;NP_001276119;NP_001276120;NP_001276121;NP_060913;NP_061145;Q9NR11 Hs.436350 1768085;2142704;5016334 A004U20;D19S963;RH15847 HSD16;MST154;MSTP154;ZNF135L;ZNF140L;ZNF327 OTTHUMP00000223607;OTTHUMP00000223608;OTTHUMP00000223610;OTTHUMP00000223611;OTTHUMP00000223613;OTTHUMP00000223614;ZNF135-like;ZNF140-like;zinc finger ZNF140-like;zinc finger protein 135-like;zinc finger protein 140-like;zinc finger protein 327 protein-coding ENSG00000089335 HGNC:13848 15765 VALIDATED 1323214 ZNF316 zinc finger protein 316 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); benzo[a]pyrene (ortholog) 7 7 7 p22.1 6040937 6053642 - 6676953 6697910 + 6637322 6658279 + 6480464 12853948;15146197;18669648;22939629 100131017 A6NFI3 ABBA01056500;AC073343;AL832182;AMYH02015180;BX393621;BX420633;CH236963;CN263497;NM_001278559;XM_006715629;XM_006715630;XM_371873 A6NFI3;NP_001265488;XP_006715692;XP_006715693 Hs.112668;Hs.720748;Hs.720750 1686392;1686979;2126109 RH47767;RH94078;RH94157 ENST00000305834;MZF-3;RP11-611L7.1;ZNF853 protein-coding ENSG00000205903 HGNC:13843 VALIDATED 5553006 ZNF317P1 zinc finger protein 317 pseudogene 1 8 8 8 q22.1 90844346 90845374 + 94658294 94659322 + 93646066 93647094 + 100288659 ABBA01037437;AC120053;AMYH02018416;NG_022426 pseudo HGNC:31062 INFERRED 4109468 ZNF300P1 zinc finger protein 300 pseudogene 1 (functional) ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN intracellular (inferred) 5 5 5 q33.1 146391325 146407473 - 150309998 150326146 - 150930436 150946584 - 12477932;14702039;23128233;24393131 134466 Q17R26 ABBA01026269;AC022106;AK091436;AK096536;AK097462;AMYH02012464;BC022559;BC117490;BC126474;NR_026867 Q17R26 Hs.661876 APPROVED pseudo HGNC:27032 VALIDATED 1345905 ZNF317 zinc finger protein 317 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus; INTERACTS WITH methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 19 19 19 p13 9146499 9169534 + 9251056 9274091 + 9140380 9163415 + 1580863;6480464 10997877;11688974;12477932;14702039;16344560;17000644;21890473 57693 K7EKT9;K7ERD6;Q96PQ6 AB046808;ABBA01029984;AC011464;AF148135;AF275255;AF307096;AF307097;AK056205;AK056570;AK304151;AK304871;AK314560;AL834126;AMYH02035460;BC001685;BC009367;BC078154;CH471106;DA757943;NM_001190791;NM_020933;NR_102435;XM_006722807;XR_430146 AAH78154;AAL29182;AAL29188;AAL29190;AAL29191;ABZ92367;BAB13414;BAG37145;BAG51752;BAG65041;BAG65608;EAW84010;EAW84011;EAW84012;EAW84013;EAW84014;EAW84015;NP_001177720;NP_065984;Q96PQ6;XP_006722870 Hs.465829 1675039;2155230;5022578;5109362 D17S1239;D1S1423;RH35935;SGC33886 KIAA1588 KRAB-containing zinc finger protein 317 protein-coding ENSG00000130803 HGNC:13507 11706 613864 VALIDATED 1351199 ZNF32-AS1 ZNF32 antisense RNA 1 10 10 q11.21 44139320 44140495 + 43643872 43645047 + 414197 ABBA01050012;AI633368;AL645634;AMYH02022716;NR_047557 Hs.605832 2169731 D10S2374 ZNF32OS1;bA402L1.8 ZNF32 antisense RNA 1 (non-protein coding);zinc finger protein 32 opposite strand 1 APPROVED ncrna ENSG00000226245 HGNC:23577 VALIDATED 1346935 ZNF32-AS2 ZNF32 antisense RNA 2 10 10 q11.21 44141390 44143467 + 43645942 43648019 + 414208 ABBA01050012;AL645634;AMYH02022716;AW188264;BI459211;HG502841;NR_047558 Hs.608956 ZNF32OS2;b402L1.7 ZNF32 antisense RNA 2 (non-protein coding);zinc finger protein 32 opposite strand 2 APPROVED ncrna ENSG00000230565 HGNC:23593 VALIDATED 1349832 ZNF32-AS3 ZNF32 antisense RNA 3 10 10 q11.21 44124265 44170147 + 43628817 43674699 + 12477932 414201 ABBA01050012;AL645634;AMYH02022716;BC033403;LN608339;NR_038867 Hs.666576 C10orf44;ZNF32-OT1;bA402L1.3 APPROVED ncrna ENSG00000223910 HGNC:23583 VALIDATED 1318587 ZNF318 zinc finger protein 318 ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); INVOLVED IN meiotic cell cycle (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 6 6 6 p21.1 44855540 44888913 - 43303808 43337181 - 43336070 43369443 - 6480464;8554872 10873617;12477932;14574404;14702039;15302935;15489334;15882980;16446156;16469430;17081983;18029348;19471022;21139048;21693764;21890473;22586326;22678362;22939629;23080069;24147044;9853615 24149 Q5VUA4;U3KQ37 AB015342;ABBA01050686;AF090114;AF121141;AK001200;AK025505;AK027061;AL583834;AL590383;AMYH02013644;BC030687;BC098434;CH471081;NM_014345 AAD17298;AAD47387;AAH98434;BAA34799;EAX04179;NP_055160;Q5VUA4 Hs.509718 1686266;1753735 RH93849;SHGC-89247 FLJ21852;HRIHFB2436;TZF;ZFP318 OTTHUMP00000016436;endocrine regulator;endocrine regulatory protein;testicular zinc finger protein-coding ENSG00000171467 HGNC:13578 11707 VALIDATED 1350572 ZNF32 zinc finger protein 32 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2-methylcholine 10 10 10 q22-q25 40142942 40147961 - 44139307 44144326 - 43643859 43648878 - 1580863;6480464 12477932;15164054;15489334;17474147;1946370;21988832;2288909;8500793;9475118 7580 P17041 ABBA01050012;AI871265;AK312132;AL645634;AMYH02022716;BC022842;BG477527;BM127643;CB067143;CD367311;CH471160;NM_001005368;NM_006973;U69645;X52361;XM_005271822;XM_005271823;XM_005271824 AAB09561;AAH22842;ABZ92250;BAG35068;CAA36587;EAW86609;EAW86610;EAW86611;NP_001005368;NP_008904;P17041;XP_005271879;XP_005271880;XP_005271881 Hs.522885 1856193;2109011;2169731 D10S2374;RH11338;ZNF32_8734 KOX30 C2H2-546;OTTHUMP00000019488;zinc finger protein 32 (KOX 30);zinc finger protein KOX30 protein-coding ENSG00000169740 HGNC:13095 01924 194539 VALIDATED 1314677 ZNF319 zinc finger protein 319 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; atrazine; cisplatin 16 16 16 q21 42525897 42531086 - 58028572 58034551 - 57994668 58000647 - 1580863;6480464 10718198;11161788;12477932;15489334;21890473;22505724 57567 H3BT69;Q9P2F9 AB037809;ABBA01025288;AC010543;AMYH02032112;BC093919;BC101767;CH471092;NM_020807;XM_005256069 AAH93919;AAI01768;ABZ92364;BAA92626;EAW82961;NP_065858;Q9P2F9;XP_005256126 Hs.129268 1688106;2218894 RH80916;ZNF319__4818 MGC126816;ZFP319 protein-coding ENSG00000166188 HGNC:13644 18326 PROVISIONAL 1605850 ZNF320 zinc finger protein 320 ZNF320 encodes a Kruppel-like zinc finger protein. Members of this protein family are involved in activation or repression of transcription.[supplied by OMIM, Jul 2002] 19 19 19 q13.41 50428706 50444171 - 53379425 53394599 - 52876172 52897693 - 6480464 11536051;12477932;14702039;21890473;22005930;22505724;23000965 162967 A2RRD8;M0QX96;M0QZA2;M0R0Z8;M0R1K6;M0R2L4;M0R2Z6;Q6ZP55 ABBA01068233;AC010487;AF086262;AK054877;AK094328;AK095630;AK096348;AK129992;AK307375;AL831902;AMYH02036411;AMYH02036412;BC064408;BC105738;BC131555;CH471135;CR933622;NM_207333;XM_006723059;XM_006723060;XM_006723061;XM_006723062 A2RRD8;AAI31556;BAC85270;CAD38570;CAI45933;EAW72101;EAW72102;NP_997216;XP_006723122;XP_006723123;XP_006723124;XP_006723125 Hs.369632 DKFZp686G16228;ZFPL zinc finger gene 320;zinc finger protein like APPROVED protein-coding ENSG00000182986 HGNC:13842 18506 606427 VALIDATED 1350144 ZNF322P1 zinc finger protein 322 pseudogene 1 INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate 9 9 9 q22.33 70473828 70476201 - 99957633 99962427 - 97195351 97200145 - 6480464 12477932;15164053 387328 ABBA01042937;AL590705;AMYH02021304;NG_032063 1679874;1709398;2110809;5492665 RH65315;SHGC-81723;UniSTS:481948;ZNF322B__4819 FLJ23393;ZNF322;ZNF322B OTTHUMP00000021740;putative zinc finger protein 322B;zinc finger protein 322B APPROVED pseudo HGNC:14003 15771 INFERRED 1605491 ZNF321P zinc finger protein 321, pseudogene INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 q13.41 50477950 50493409 - 53430388 53445847 - 52927135 52942594 - 6480464 12477932;14702039;15489334;17974005 399669 ABBA01068230;ABBA01068231;AC010487;AK096828;AMYH02036414;AMYH02036415;AMYH02036416;BC046449;BC119627;BC119628;CH471135;NR_037805 AAH46449;AAI19628;AAI19629;BAC04871;EAW72104;EAW72105;Q8N8H1 Hs.745445 5117897 GDB:631813 DKFZp781C2298;FLJ39509;MGC35402;ZNF321 KRAB domain-containing protein ZNF321;zinc finger protein 321 APPROVED pseudo HGNC:13827 14606 VALIDATED 1346383 ZNF325 zinc finger protein 325 51711 Q9ULZ6 AB021643;NM_016265 HGNC:14095 1347331 ZNF322 zinc finger protein 322 ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM, Mar 2008] 6 6 6 p22.1 27863913 27889235 - 26634611 26659980 - 26634383 26659752 - 6480464 12477932;14702039;15489334;15555580;16344560;20379614;21832049;24250222 79692 C9JP13;Q6U7Q0 ABBA01066560;AK027046;AK290038;AL513548;AMYH02013354;AY376736;BC050425;BC074772;BC119669;BC139750;BX474628;CH471087;CS185637;DA437716;DA481584;DB454351;NM_001242797;NM_001242798;NM_001242799;NM_024639 AAH50425;AAH74772;AAI19670;AAQ85127;ABZ92058;BAB15637;BAF82727;CAJ42818;EAW55594;EAW55595;EAW55596;NP_001229726;NP_001229727;NP_001229728;NP_078915;Q6U7Q0 Hs.126280;Hs.530271 1670592;1674573;1679874;1682057;1685496;1709398;1711356;2110809;5492665 D6S2290;D6S2349;RH45881;RH65315;RH69285;SHGC-81723;SHGC-89333;UniSTS:481948;ZNF322B__4819 FLJ23393;HCG12;ZNF322A;ZNF388;ZNF489;bA457M11.2;bA457M11.3 HLA complex group 12;OTTHUMP00000215822;OTTHUMP00000215823;OTTHUMP00000215824;zinc finger protein 322A;zinc finger protein 388;zinc finger protein 489 APPROVED protein-coding ENSG00000181315 HGNC:23640 15770 610847 VALIDATED 1315356 ZNF324 zinc finger protein 324 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; aflatoxin B1; diazinon 19 19 19 q13.43 56022413 56028953 + 58978412 58984945 + 58457652 58473578 + 1580863;6480464;8554872 11779640;12477932;14702039;17081983;20360068;20562864;21549307 25799 F5H1K2;M0R1C8;O75467;Q96I98 ABBA01020766;AC012313;AF060503;AF075117;AK023989;AK092341;AMYH02036536;BC007717;CH471135;NM_014347;XM_005258713;XM_006723129;XM_006723130;XM_006723131 AAC33716;AAH07717;BAB14758;BAG52533;EAW72594;EAW72595;EAW72596;NP_055162;O75467;XP_005258770;XP_006723192;XP_006723193;XP_006723194 Hs.515660 1681092 RH79767 ZF5128;ZNF324A zinc finger protein 324A;zinc finger protein ZF5128 protein-coding ENSG00000083812 HGNC:14096 11708 VALIDATED 1601703 ZNF326 zinc finger protein 326 ENCODES a protein that exhibits poly(A) RNA binding; RNA polymerase II core binding; INVOLVED IN regulation of DNA-templated transcription, elongation; RNA splicing; FOUND IN DBIRD complex; spliceosomal complex; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; hydrogen peroxide 1 1 1 p22.2 88706370 88739792 + 90460678 90494101 + 89995119 90028542 + 6480464 12477932;15489334;15635413;16344560;16710414;20197096;20360068;21139048;21145461;21252943;21890473;22178446;22446626;22666313;22797925;22939629;23000965;23383273;23752268;24457600;25027693 284695 E2QRN4;Q5BKZ1 AA857943;ABBA01045584;AK000410;AK297073;AK303707;AL161797;AL391497;AMYH02001443;BC013102;BC014899;BC038454;BC052645;BC053888;BC061521;BC070341;BC090866;BU521884;CH471097;DB111509;NM_182975;NM_182976;XM_005270779;XM_005270780 AAH52645;AAH53888;AAH70341;AAH90866;BAG59592;BAG64691;EAW73125;EAW73126;EAW73127;EAW73128;NP_892020;NP_892021;Q5BKZ1;XP_005270836;XP_005270837 Hs.306221 1687007;2119250 RH48327;RH69517 FLJ20403;MGC61591;ZAN75;ZIRD;Zfp326;dJ871E2.1 DBIRD complex subunit ZNF326;OTTHUMP00000012401;OTTHUMP00000012403;OTTHUMP00000012404;ZNF-protein interacting with nuclear mRNPs and DBC1;dJ871E2.1 (novel protein (ortholog of mouse zinc finger protein Zan75));zinc finger protein interacting with mRNPs;zinc finger protein interacting with mRNPs and DBC1 protein-coding ENSG00000162664 HGNC:14104 15774 614601 VALIDATED 1344348 ZNF328 zinc finger protein 328 64331 HGNC:14208 1348045 ZNF329 zinc finger protein 329 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cyclosporin A; disodium selenite; formaldehyde 19 19 19 q13.43 55681629 55706077 - 58637695 58666477 - 58126328 58154735 - 6480464;8554872 12477932;14702039;15231748;24250222 79673 M0R136;Q86UD4 ABBA01020782;ABBA01020783;AC008751;AF085857;AK022648;AK090893;AK095349;AK096542;AMYH02036529;BC047501;CH471135;NM_024620;XM_006723381;XM_006723382;XM_006723383;XM_006723384 AAH47501;ABZ92057;BAB14154;BAG52244;BAG53319;EAW72560;EAW72561;EAW72562;EAW72563;NP_078896;Q86UD4;XP_006723444;XP_006723445;XP_006723446;XP_006723447 Hs.458377 1653186;2115780;5022578 D1S1423;SHGC-34373;STS-H21958 FLJ12586 protein-coding ENSG00000181894 HGNC:14209 07779 VALIDATED 1316746 ZNF330 zinc finger protein 330 ENCODES a protein that exhibits zinc ion binding (inferred); FOUND IN chromosome, centromeric region; midbody; nucleolus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine; 5-aza-2'-deoxycytidine 4 4 4 q31.21 139472797 139486599 + 142142049 142155851 + 141220895 141234697 + 1580863;6480464 10593942;11528117;12477932;14702039;15231747;15489334;15592455;16344560;18781797;19895853;20585324;21139048;21890473;21906983;21963094;22053931;23516598;24654937;8125298 27309 D6R8Y9;D6R9C8;D6R9Q8;D6RBR7;D6RBS7;D6RCK7;Q9Y3S2 ABBA01069986;AC107220;AJ006591;AJ404873;AK002106;AK223609;AK294089;AK315463;AMYH02010218;BC004421;BU532661;CH471056;DA089047;NM_001292002;NM_014487 AAH04421;ACE87058;ACE87739;BAD97329;BAG37850;BAG57430;CAB43112;CAC18679;EAX05089;NP_001278931;NP_055302;Q9Y3S2 Hs.120766 2110813;2121506 STS-N21079;ZNF330_9546 HSA6591;NOA36 OTTHUMP00000164609;OTTHUMP00000220135;OTTHUMP00000220137;nucleolar autoantigen 36;nucleolar cysteine-rich protein;zinc finger autoantigen 330 protein-coding ENSG00000109445 HGNC:15462 15775 609550 VALIDATED 1352601 ZNF333 zinc finger protein 333 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsenous acid; copper atom; copper(0) 19 19 19 p13 14694891 14725784 + 14800711 14844558 + 14690040 14733746 + 1580863;6480464;8554872 11347906;12151103;12477932;14702039;15607024;23455924 84449 B3KSN8;F5H0A3;M0R0S8;M0R113;M0R1P1;Q96JL9 AB058709;ABBA01051078;AC090427;AF372702;AK094028;AK095142;AK122817;AK291471;AK307147;AK309208;AL832544;AMYH02035633;BC012344;BC048107;BC064571;BX647475;CH471106;DA103403;NM_001300912;NM_032433;XM_005260098;XM_005260101;XM_006722924 AAH48107;AAH64571;AAI66674;AAM15528;BAB47435;BAF84160;BAG52800;BAG52992;CAI56712;EAW84442;EAW84443;NP_001287841;NP_115809;Q96JL9;XP_005260155;XP_005260158;XP_006722987 Hs.515215 1756967;5022578;5037552 D1S1423;D8S2279;SHGC-144138 KIAA1806 protein-coding ENSG00000160961 HGNC:15624 15776 611811 VALIDATED 1318499 ZNF334 zinc finger protein 334 This gene encodes a member of the C2H2 zinc finger family. The encoded protein contains a Krueppel-associated box, fourteen C2H2 zinc finger domains, and four C2H2-type/integrase DNA-binding domains. Decreased expression of this gene may be a marker for rheumatoid arthritis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 20 20 20 q13.12 41841122 41853608 - 45128269 45142198 - 46499630 46513559 - 1580863;6480464;8554872 11780052;12477932;14702039;15489334;16189514;16344560;20738421 55713 M0R3E1;Q5XKG8;Q8N3P8;Q9HCZ1 ABBA01052680;AK001331;AK057717;AK095611;AL034424;AL354745;AL833936;AMYH02037160;AX405973;AX406001;BC024177;BC026321;BG720863;BG913079;CH471077;DA080528;DA101651;NM_001270497;NM_018102;NR_073026;XM_005260447;XM_006723816;XM_006723817;XM_006723818;XM_006723819;XM_006723820 AAH24177;AAH26321;ABZ92348;ADZ16015;BAA91630;BAG51955;CAD35080;CAD35108;CAD38791;EAW75732;EAW75733;EAW75734;EAW75735;NP_001257426;NP_060572;Q9HCZ1;XP_005260504;XP_006723879;XP_006723880;XP_006723881;XP_006723882;XP_006723883 Hs.147041 1693344;1696624;1784402 AL034497;SHGC-170806;SHGC-82938 OTTHUMP00000031209 APPROVED protein-coding ENSG00000198185 HGNC:15806 15777 REVIEWED 1344097 ZNF331 zinc finger protein 331 This gene encodes a zinc finger protein containing a KRAB (Kruppel-associated box) domain found in transcriptional repressors. A pseudogene of this gene is located on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 19 19 19 q13.42 51065602 51124916 + 54024177 54083523 + 53520923 53580269 + 6480464;8554872 10502321;11267678;12477932;14610350;14702039;15147412;15489334;16344560;18255255;20360068;20379614;21900206;22370639;22505724;24250222 55422 D6RH27;E7ENR0;E7EPG5;E7EPT0;E7ERM8;E7ETJ5;E7EV14;E7EWU7;Q68D63;Q71QC5;Q71QC6;Q71QC9;Q9NQX6 ABBA01068210;ABBA01068211;ABBA01068212;ABBA01068213;ABBA01068214;AC011487;AF086105;AF251515;AF272148;AF412398;AF412399;AF412400;AF412401;AF412402;AF412403;AF412404;AK075226;AK128736;AK312889;AMYH02036425;AMYH02036426;AMYH02036427;AX113689;AX405913;BC009365;BC009433;BF057584;BQ003434;CH471135;CR749560;DA060280;DA123838;DA237659;NM_001079906;NM_001079907;NM_001253798;NM_001253799;NM_001253800;NM_001253801;NM_018555;XM_005259040;XM_006723259 AAF70179;AAF78075;AAH09365;AAH09433;AAQ03245;AAQ03246;AAQ03247;AAQ03248;AAQ03249;AAQ03250;AAQ03251;ABZ92345;BAC11485;CAC37860;CAD35020;CAH18357;EAW72144;EAW72145;EAW72146;EAW72147;EAW72148;NP_001073375;NP_001073376;NP_001240727;NP_001240728;NP_001240729;NP_001240730;NP_061025;Q9NQX6;XP_005259097;XP_006723322 Hs.185674 1661012;1676922;1697164;1770281;2129727;2135345;2149149;2182840;2182842;2186003;2187835;2187859;2187861;2187865;2187867;5123935 A004A18;A006I30;G20851;G64894;G64895;G64898;G64899;G64900;RH102070;RH11970;RH45145;RH45559;RH64852;RH80163;WI-14156;WI-18576 DKFZp686L0787;RITA;ZNF361;ZNF463 C2H2-like zinc finger protein rearranged in thyroid adenomas;KRAB zinc finger protein;OTTHUMP00000223038;OTTHUMP00000223039;OTTHUMP00000223040;OTTHUMP00000223041;OTTHUMP00000223042;OTTHUMP00000223043;OTTHUMP00000223044;OTTHUMP00000223045;OTTHUMP00000223046;OTTHUMP00000223047;OTTHUMP00000223048;OTTHUMP00000223049;OTTHUMP00000223050;OTTHUMP00000223051;OTTHUMP00000223052;OTTHUMP00000223053;OTTHUMP00000223054;rearranged in thyroid adenomas;zinc finger protein 361;zinc finger protein 463 APPROVED protein-coding ENSG00000130844 HGNC:15489 05827 606043 VALIDATED 1351426 ZNF33A zinc finger protein 33A ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper atom; copper(0) 10 10 10 p11.2 38070210 38119636 + 38299578 38353946 + 38010650 38060067 + 1580863;6480464;8554872 12477932;12535642;12766061;15164054;16344560;2014798;21282530;23602568;24250222;7584044;8464732 7581 Q06730;Q9H5I4 ABBA01033289;ABBA01033290;AF063599;AF086531;AI300433;AK027057;AK292844;AK303445;AL117337;AL161931;AL712670;AMYH02022660;AY184389;BC017760;BC030511;BC126119;BF435065;CD679489;CH471072;D31763;DA276183;DA757208;DB134021;DB234051;DB235703;NM_001278170;NM_001278171;NM_001278173;NM_001278174;NM_001278175;NM_001278176;NM_001278177;NM_001278178;NM_001278179;NM_006954;NM_006974;X68686;X68687;X68689 AAG43158;AAH17760;AAH30511;AAI26120;AAO24702;ADR83385;BAA06541;BAB15642;BAF85533;BAG64490;CAA48645;CAA48646;CAA48648;EAW85888;EAW85889;EAW85890;EAW85891;EAW85892;EAW85893;EAW85894;NP_001265099;NP_001265100;NP_001265102;NP_001265103;NP_001265104;NP_001265105;NP_001265106;NP_001265107;NP_001265108;NP_008885;NP_008905;Q06730 Hs.435774 1670054;1675415;1684489;1793104;2139547;2162419;5038470 D10S2149;G15860;PMC196523P1;RH46113;RH47037;RH66219;WI-14693 FLJ23404;KIAA0065;KOX2;KOX31;KOX5;NF11A;ZNF11;ZNF11A;ZNF33;ZZAPK OTTHUMP00000019465;OTTHUMP00000019466;brain my041 protein;zinc finger and ZAK associated protein with KRAB domain;zinc finger and ZAK-associated protein with KRAB domain;zinc finger protein 11A;zinc finger protein 33a (KOX 31);zinc finger protein KOX31 protein-coding ENSG00000189180 HGNC:13096 11710 194521 VALIDATED 7204955 ZNF33BP1 zinc finger protein 33B pseudogene 1 10 10 38082866 38084103 - 37793938 37795175 - 100419868 AA805749;ABBA01033296;AL132657;AL135791;AMYH02022657;NR_051997 Hs.741719 pseudo HGNC:44975 VALIDATED 1347257 ZNF33B zinc finger protein 33B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenous acid; copper atom; copper(0) 10 10 10 q11.2 39087983 39137375 - 43084532 43134016 - 42589084 42638668 - 1580863;6480464 12477932;12566394;14702039;15164054;15383276;15489334;16169070;16385451;1639412;2014798;2288909;24250222;8464732 7582 Q06732 ABBA01049991;AF222749;AJ491697;AK025638;AK096683;AK304306;AK309564;AK310073;AL022345;AMYH02022701;BC035770;BC036398;BC048313;BC065181;BC107726;BC109232;BC160932;NM_006955;X52333;X68684;X68685;X68688;XM_005271825;XM_006717964;XM_006717965;XM_006717966;XM_006717967;XM_006717968 AAF26452;AAH48313;AAH65181;AAI07727;BAG65159;CAA36559;CAA48643;CAA48644;CAA48647;CAD36956;NP_008886;Q06732;XP_005271882;XP_006718027;XP_006718028;XP_006718029;XP_006718030;XP_006718031 Hs.732284 1667084;1674408;1681883;1684489;1688889;1793104;2122766;2139547;2174959;2220024;5024039 D16S325;G30579;PMC196523P1;RH46067;RH47037;RH70877;RH79239;STS-N26998;STS-N58295;WI-14693;ZNF11B__4957 FLJ23327;KOX2;KOX31;MGC129696;ZNF11B OTTHUMP00000019475;zinc finger protein 11b (KOX 2);zinc finger protein 33b (KOX 31);zinc finger protein KOX2 protein-coding ENSG00000196693 HGNC:13097 01912 194522 PROVISIONAL 1346802 ZNF341 zinc finger protein 341 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH disodium selenite; methyl methanesulfonate; valproic acid 20 20 20 q11.22 29072525 29132795 + 32319566 32380075 + 33731760 33792269 + 1580863;6480464 11780052;12477932;14702039;15231748;16344560;18029348;20881960;24722188 84905 B3KU97;E9PN62;E9PQQ0;Q504V9;Q9BYN7 ABBA01019218;ABBA01019219;ABBA01019220;ABBA01019221;AK027550;AK095848;AK096755;AK122943;AL050349;AMYH02036957;AMYH02036958;AMYH02036959;AMYH02036960;AMYH02036961;BC040440;BC063492;BC094738;BC132873;BC144188;BC146811;BC157823;CH471077;DB091229;KF456883;NM_001282933;NM_001282935;NM_032819;NR_104259 AAH94738;AAI32874;AAI44189;AAI46812;AAI57824;ADR83415;BAB55193;BAG53359;EAW76295;EAW76296;EAW76297;NP_001269862;NP_001269864;NP_116208;Q9BYN7 Hs.516989 1675878;2152853 RH92431;Z94663 OTTHUMP00000030670;OTTHUMP00000233911 protein-coding ENSG00000131061 HGNC:15992 15781 VALIDATED 8661941 ZNF341-AS1 ZNF341 antisense RNA 1 20 20 q11.22 32375179 32398926 - 33787373 33811120 - 101929746 AA453965;ABBA01019217;ABBA01019218;AL050349;AMYH02036961;AW136575;BX102976;HG511312;HG511313;NR_110623;XR_244165;XR_244166;XR_248928;XR_248929;XR_253956;XR_253957 Hs.504633 ncrna ENSG00000230753 HGNC:50736 VALIDATED 1344905 ZNF343 zinc finger protein 343 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; arsane; arsenic atom 20 20 20 p13 2526894 2554212 - 2462463 2489778 - 2481817 2524522 - 6480464;8554872 11780052;12477932;14702039;15489334;16344560;21558551;21832049 79175 Q6P1L6 ABBA01053791;ABBA01053792;AK055734;AK096911;AL049650;AL049712;AL133339;AMYH02036581;BC002897;BC011862;BC065009;BQ212757;CD702168;CH471133;DA034001;DA585339;DB061474;DR002765;NM_001282495;NM_001282496;NM_001282497;NM_001282498;NM_001282499;NM_024325;XM_006723625 AAH02897;AAH11862;AAH65009;BAB71000;BAC04892;EAX10594;EAX10595;NP_001269424;NP_001269425;NP_001269426;NP_001269427;NP_001269428;NP_077301;Q6P1L6;XP_006723688 Hs.516846 1682537;2107353 MGC10715__7657;RH94135 FLJ39592;MGC10715;MGC20504;dJ734P14.5 OTTHUMP00000030027;OTTHUMP00000030028;OTTHUMP00000030029;OTTHUMP00000030030;OTTHUMP00000237596 protein-coding ENSG00000088876 HGNC:16017 18327 VALIDATED 1317625 ZNF346 zinc finger protein 346 The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. [provided by RefSeq, Jul 2008] 5 5 5 q35.2 172007563 172051635 - 176449681 176508189 + 177022680 177066757 + 1580863;6480464 10488071;11076863;11230166;11256614;12477932;14702039;15254228;15489334;15489336;16381901;18029348;20020773;21139048;21145461;21715977;21903422;21988832;23382074;24457600;24778252 23567 B7Z4J8;B7Z4N4;B7Z6B6;B7Z6Q2;D6RJ07;Q9UL40 ABBA01033474;ABBA01033475;ABBA01033476;AC027317;AF083340;AK024650;AK026627;AK131469;AK295549;AK297448;AK297584;AK300065;AK300738;AL359576;AMYH02012823;AMYH02012824;BC007775;CB988061;CH471195;CR627467;CR749692;NM_012279;XM_005265860;XM_005265862;XM_005265864;XM_005265865;XM_006714837;XR_245272;XR_427802 AAD52018;AAH07775;BAD18614;BAH12103;BAH12584;BAH12620;BAH13202;BAH13338;CAH18475;CAL37677;CAL38643;EAW85038;EAW85039;EAW85040;NP_036411;Q9UL40;XP_005265917;XP_005265919;XP_005265921;XP_005265922;XP_006714900 Hs.484259 1740371;1767520;1776609;1848494;2110089;2184299 D5S2196E;D5S2703;D5S2863;RH47837;SGC32143;ZNF346__4826 DKFZp547M223;JAZ;Zfp346 OTTHUMP00000161434;OTTHUMP00000223533;OTTHUMP00000223535;OTTHUMP00000223537;double-stranded RNA-binding zinc finger protein JAZ;just another zinc finger protein APPROVED protein-coding ENSG00000113761 HGNC:16403 05606 605308 REVIEWED 1350063 ZNF345 zinc finger protein 345 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); regulation of transcription from RNA polymerase III promoter (inferred); transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH fonofos; methylseleninic acid; parathion 19 19 19 q13.12 34125551 34154766 + 37341260 37384120 + 36850358 36893218 + 1580863;6480464;8554872 12477932;14702039;15342556;15489334;16344560;7865130;9278146 25850 B2RCE4;E9PLT7;F8W8R5;K7EKZ8;K7EM63;K7EQ01;K7ESK8;Q14585 ABBA01016190;ABBA01016191;ABBA01016192;AC008733;AC020928;AK094146;AK297516;AK315069;AMYH02036027;BC010386;BC032863;BP195158;DA625929;DB028175;DB085650;DB096099;DB289823;KC877732;NM_001242472;NM_001242474;NM_001242475;NM_001242476;NM_003419;NR_038362;X78933;XM_006723132 AAH32863;ABZ92018;BAG37541;BAG52826;BAH12601;CAA55533;NP_001229401;NP_001229403;NP_001229404;NP_001229405;NP_003410;Q14585;XP_006723195 Hs.362324 1854318;5015961;5024756;5037552 D15S1477;D19S1039;D8S2279;RH80030 FLJ36827;FLJ51247;FLJ96023;HZF10;MGC33794 OTTHUMP00000232107;OTTHUMP00000232108;OTTHUMP00000232110;zinc finger protein HZF10 protein-coding ENSG00000251247 HGNC:16367 10330 VALIDATED 1343280 ZNF347 zinc finger protein 347 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; pirinixic acid; valproic acid 19 19 19 q13.42 50689168 50709538 - 53641553 53662322 - 53138300 53159069 - 1580863;6480464 12477932;14702039;16344560;21906983;22505724 84671 A8K1S9;M0QXR8;M0QZE2;M0QZJ6;M0R1E9;Q96SE7 AA776564;AA978292;ABBA01068222;AC010328;AC092070;AI366675;AK095593;AK096623;AK289994;AK314603;AL713691;AMYH02036418;AMYH02036419;AY029765;BC002938;BC015611;BC136255;BC143412;CH471135;DB214217;DB316074;NM_001172674;NM_001172675;NM_032584;XM_005259335;XM_005259336;XM_006723430;XM_006723431 AAI36256;AAK37403;BAF82683;BAG37173;BAG53339;CAD28491;EAW72119;EAW72120;EAW72121;NP_001166145;NP_001166146;NP_115973;Q96SE7;XP_005259392;XP_005259393;XP_006723493;XP_006723494 Hs.467239 1335427;1759565;1855438;2136255;5015961;5020948;5022322;5037552 Bdaa5e10;D11S2560;D15S1477;D19S888;D8S2279;G35510;SHGC-151226;STS-H93450 ZNF1111 zinc finger 1111;zinc finger protein 1111 protein-coding ENSG00000197937 HGNC:16447 15783 VALIDATED 1320503 ZNF35 zinc finger protein 35 ENCODES a protein that exhibits sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; INVOLVED IN cellular response to retinoic acid (ortholog); spermatogenesis (ortholog); ASSOCIATED WITH Autosomal dominant inheritance (inferred); Melanoma (inferred); Neoplasm (inferred); FOUND IN nucleus; perinuclear region of cytoplasm; cell (ortholog); INTERACTS WITH atrazine; copper(2+) sulfate; formaldehyde 3 3 3 p21.32 44628226 44640276 + 44690108 44702283 + 44648616 44660791 + 1580863;6480464;8699517;8554872 12477932;15342556;15489334;1572646;20211142;2108922;21832049;3380682;7814019;8477855 7584 B4DUB8;C9J011;C9JGR2;C9JGS9;P13682 ABBA01024739;AC099669;AC124045;AK300581;AK314821;AMYH02006649;BC013597;BC015892;BP237260;BT006962;CH471055;L35269;NM_003420;X07289;XM_005265442;XM_005265443;XM_005265444;XM_005265445;XM_005265446;XM_005265447 AAA85451;AAH13597;AAP35608;BAG37343;BAG62280;CAA30268;EAW64715;EAW64716;NP_003411;P13682;XP_005265499;XP_005265500;XP_005265501;XP_005265502;XP_005265503;XP_005265504 Hs.288658 2108675;2111212;2158398;2184922;5038609 D3S1751E;SHGC-76875;SHGC-76885;STS-L35269;ZNF35_8735 HF.10;HF10;Zfp105 OTTHUMP00000164121;OTTHUMP00000209722;OTTHUMP00000209724;zinc finger protein 35 (clone HF.10);zinc finger protein HF.10 protein-coding ENSG00000169981 HGNC:13099 01920 194533 VALIDATED 1342631 ZNF350 zinc finger protein 350 ENCODES a protein that exhibits DNA binding; INVOLVED IN negative regulation of transcription, DNA-templated; regulation of transcription, DNA-templated; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; transcriptional repressor complex; INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; coumestrol 19 19 19 q13.41 49517152 49539638 - 52467593 52490079 - 51964340 51986826 - 1580863;6480464;8554872 11090615;11161714;12477932;12872252;14517299;14660588;14690447;14702039;14755250;15113441;15231748;15496401;15596820;16344560;16485136;16843262;16997916;17079232;17557904;17764113;18029348;18676680;18950845;19170196;19279087;19484476;19625176;19692168;19996286;20007691;20150366;20221260;20306497;20644561;20713352;20926453;21791101;22975076;23151675;23991171;24924633;8889548 59348 M0QY52;M0QYT6;M0R017;M0R1T8;Q9GZX5 ABBA01068262;AC011460;AF295096;AF309561;AK021864;AK023467;AMYH02036394;AU135269;BC009921;BM674621;CH471135;NM_021632 AAG17439;AAG25714;AAH09921;ABM84000;ABM87330;BAB14583;EAW72056;NP_067645;Q9GZX5 Hs.407694 2115441;2157603;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;RH41908;RH48568 ZBRK1;ZFQR KRAB zinc finger protein ZFQR;zinc finger and BRCA1-interacting protein with a KRAB domain 1;zinc finger protein ZBRK1;zinc-finger protein ZBRK1 protein-coding ENSG00000256683 HGNC:16656 05663 605422 VALIDATED 1343773 ZNF34 zinc finger protein 34 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; methyl methanesulfonate 8 8 8 q24.3 142175990 142190229 - 145998499 146012725 - 144772224 144787345 - 1580863;6480464;8554872 11076863;11230166;12477932;14702039;15342556;15489334;15489336;16381901;2014798;20379614;22505724;8104631 80778 B3KU46;E9PNZ6;E9PSD0;Q8IZ26 ABBA01005195;AF086227;AF235103;AK096508;AL833814;AMYH02019017;AMYH02019018;BC004480;BC028136;BP199961;CH471162;NM_001286769;NM_001286770;NM_030580;W43004;XM_005272345;XM_005272346;XM_005272349;XM_006716662;XM_006716663 AAH04480;AAH28136;BAG53308;CAD38677;CAL37706;EAW82055;EAW82056;EAW82057;EAW82058;NP_001273698;NP_001273699;NP_085057;Q8IZ26;XP_005272402;XP_005272403;XP_005272406;XP_006716725;XP_006716726 Hs.631854 1668534;5022578;5037552;5118576 D11S3430;D1S1423;D8S2279;SHGC-57335 KOX32;MGC10520 OTTHUMP00000229060;OTTHUMP00000229061;OTTHUMP00000229063;zinc finger protein 34 (KOX 32);zinc finger protein KOX32 protein-coding ENSG00000196378 HGNC:13098 11772 194526 VALIDATED 1353304 ZNF354A zinc finger protein 354A ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription from RNA polymerase II promoter (inferred); regulation of transcription, DNA-templated (inferred); sensory perception of sound (inferred); ASSOCIATED WITH Carcinoma in Situ; Seminoma; Reperfusion Injury (ortholog); FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; coumestrol; cyclosporin A 5 5 5 q35.3 173765092 173784470 - 178138522 178157703 - 178711521 178730702 - 1580863;1300202;2291889;6480464;8554872 8382778;9788609 10842194;12477932;12943985;14760703;18187620;19460752;20628624;21139048;8889548;8986806;9465904;9919311 6940 E5RGC2;E5RHT5;O60765;V9HWI2 ABBA01010004;AC113348;AF116030;AK290711;AMYH02012866;BC036517;BC047105;BU685427;CH471165;D89928;EU794664;NM_005649 AAD05335;AAH47105;ABZ92435;ACJ13718;ADZ15554;BAA25182;BAF83400;EAW53830;NP_005640;O60765 Hs.484324 1691092 RH98503 EZNF;HEL104;HKL1;KID-1;KID1;TCF-17;TCF17 OTTHUMP00000161496;OTTHUMP00000224336;epididymis luminal protein 104;transcription factor 17;zinc finger protein eZNF protein-coding ENSG00000169131 HGNC:11628 03900 602444 VALIDATED 1346578 ZNF354B zinc finger protein 354B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (+)-catechin; copper(2+) sulfate; disodium selenite 5 5 5 q35.3 173914525 173938862 + 178286954 178311424 + 178859953 178884423 + 1580863;6480464;8554872 12477932;14702039;15489334 117608 E5RH89;Q96LW1 AA599717;ABBA01010008;AC126915;AI683630;AK057737;AK289667;AMYH02012867;BC022190;BC036466;BC104777;BC112111;CH471165;NM_058230 AAI04778;AAI12112;ABZ92127;BAB71556;BAF82356;EAW53828;NP_478137;Q96LW1 Hs.724051 1691092;2220044 RH98503;ZNF354B__4830 FLJ25008;KID2;MGC138316 OTTHUMP00000161497;OTTHUMP00000224390 protein-coding HGNC:17197 15784 VALIDATED 732123 ZNF335 zinc finger protein 335 The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41288749 41312289 - 44577292 44601560 - 45948653 45972194 - 1580863;6480464;8699517;7240710;8554872 10737800;11780052;12215545;12477932;14702039;15302935;18180299;19131338;19505873;20379614;22094256;23178126;23924207 63925 Q8IW09;Q9H4Z2 ABBA01052673;AF395833;AK026157;AK027358;AK054694;AK074214;AK092485;AK122963;AK296989;AL162458;AMYH02037155;BC041331;BC142981;BF755826;CH471077;NG_029772;NM_022095;XM_005260504;XM_005260506 AAH41331;AAI66679;AAN09900;BAB15379;BAG59529;EAW75777;NP_071378;Q9H4Z2;XP_005260561;XP_005260563 Hs.174193 1659573;1663987;1694572;1722279;2155540 G43266;G60052;NIB54;RH12680;Z94554 MCPH10;NIF-1;NIF1;NIF2 NRC-interacting factor 1;OTTHUMP00000031195;zinc-finger/leucine-zipper co-transducer NIF1 APPROVED protein-coding ENSG00000198026 HGNC:15807 11709 610827;615095 REVIEWED 1354357 ZNF337 zinc finger protein 337 This gene encodes a zinc finger domain containing protein. The function of this protein has yet to be determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] 20 20 20 p11.1 25728466 25751084 - 25654744 25677515 - 25674108 25696833 - 1580863;6480464 11780052;12477932;14702039;15489334;16169070;16189514 26152 A8K5C0;Q6ZUQ0;Q9Y3M9 ABBA01048714;AK056184;AK056466;AK125455;AK291235;AK299811;AL031673;AL049942;AMYH02036854;AMYH02036855;AMYH02036856;BC021298;BC034569;BP201424;BX113975;CH471133;NG_034058;NM_001290261;NM_015655;XM_005260702;XM_006723558;XM_006723559 AAH21298;BAC86169;BAF83924;BAG51641;BAG51720;BAG61684;CAB43216;EAX10077;EAX10078;NP_001277190;NP_056470;Q9Y3M9;XP_005260759;XP_006723621;XP_006723622 Hs.61881;Hs.633621;Hs.661684 1659782;1689324 RH92647;Z94581 OTTHUMP00000030501;OTTHUMP00000030502 protein-coding ENSG00000130684 HGNC:15809 15779 VALIDATED 736972 ZNF354C zinc finger protein 354C ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; hydralazine 5 5 5 q35 174114833 174134921 + 178487607 178510022 + 179060606 179083021 + 6480464 10786630;12477932;15489334;15555547;22505724 30832 Q86Y25;Q9NT78 ABBA01010012;AC104117;AF395540;AF525463;AL137483;AMYH02012870;AMYH02012871;BC063312;CH471165;NM_014594;XM_005265894 AAH63312;AAM69676;AAO83897;CAB70764;EAW53817;NP_055409;Q86Y25;XP_005265951 Hs.272328 1785662;2177748 SHGC-64768;STS-N32537 KID3;hKID3 KRAB-zinc finger protein synten;OTTHUMP00000161488;kidney, ischemia, and developmentally-regulated protein 3 protein-coding ENSG00000177932 HGNC:16736 15785 PROVISIONAL 3081780 ZNF33AP1 zinc finger protein 33A pseudogene 1 10 10 10 p11 37954297 37956640 + 38183521 38185864 + 37894593 37896936 + 79231 ABBA01033292;AL117337;AMYH02022658;NG_002659 BA393J16.4;ZNF33CP APPROVED pseudo HGNC:30957 INFERRED 1349739 ZNF355P zinc finger protein 355, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); arsenite(3-) (ortholog) 21 21 q11.2 14468106 14529382 - 13095785 13157061 - 6480464 10830953;1740334 100505852 Q9NSJ1 AJ239321;AL163202;AMYH02037511 CAB90395;Q9NSJ1 PRED65;ZNF834 pseudo HGNC:17218 MODEL 1345042 ZNF35P zinc finger protein 35 (clone HF.10) pseudogene 1572646 7585 HGNC:13100 1321306 ZNF358 zinc finger protein 358 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN embryonic forelimb morphogenesis (ortholog); neural tube development (ortholog); stem cell maintenance (ortholog); FOUND IN nucleus (inferred); INTERACTS WITH elemental selenium; selenium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.2 7453515 7458434 + 7580169 7585911 + 7515283 7521025 + 1580863;6480464 11013137;12036583;12477932;14702039;15489334;21890473 140467 M0R2S5;Q9NW07 ABBA01010900;AC008878;AK001252;AMYH02035399;BC003585;BC014002;BI601846;C15772;CH471139;NM_018083;XM_005272460 AAH03585;AAH14002;ABZ92101;BAA91582;EAW69035;NP_060553;Q9NW07;XP_005272517 Hs.133475 1655491;1680104 RH68764;RH93812 FLJ10390;ZFEND OTTHUMP00000196562 protein-coding ENSG00000198816 HGNC:16838 10331 VALIDATED 1603828 ZNF324B zinc finger protein 324B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH calcitriol; testosterone; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.43 56006972 56013201 + 58962971 58969199 + 58451604 58457832 + 6480464;8554872 12477932;14702039;20562864;22505724;24250222;8889548 388569 M0R090;M0R0B1;M0R1X9;M0R3B5;Q6AW86 ABBA01020766;AC012313;AK127750;AK131452;AMYH02036536;BC140881;BC140882;BM714371;BX648711;CH471135;NM_207395;XM_005258914;XM_005258915;XM_005258916;XM_005258917;XM_005258918 AAI40882;AAI40883;BAC87113;BAD18597;CAH10556;EAW72593;NP_997278;Q6AW86;XP_005258971;XP_005258972;XP_005258973;XP_005258974;XP_005258975 Hs.186970 FLJ45850 protein-coding ENSG00000249471 HGNC:33107 13515 VALIDATED 1602182 ZNF362 zinc finger protein 362 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; aflatoxin B1; benzo[a]pyrene 1 1 1 p35.1 32007735 32037981 + 33721908 33766321 + 33256307 33300720 + 6480464 10737800;12477932;17000644;19322201 149076 F5H055;Q5T0B9 ABBA01023380;AF318356;AK098342;AL513327;AMYH02000731;AMYH02000732;AW204855;BC065039;BC071632;BC103704;BC104779;BC112113;BF743001;BX283663;CH471059;NM_152493;XM_005270507;XM_005270508 AAI04780;AAI12114;AAL55863;ABZ92113;BAC05287;EAX07464;NP_689706;Q5T0B9;XP_005270564;XP_005270565 Hs.743358 1666224;1772182;1858419 G21909;SGC34497;SHGC-30968 FLJ25476;MGC138318;RN;lin-29 OTTHUMP00000004282;rotund homolog protein-coding ENSG00000160094 HGNC:18079 13394 VALIDATED 1316151 ZNF367 zinc finger protein 367 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity; INVOLVED IN regulation of transcription from RNA polymerase II promoter; FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 9 9 9 q22 69589805 69622246 - 99148223 99180669 - 96385941 96418387 - 1580863;6480464 12234665;12477932;14702039;15344908;18029348;23563607 195828 Q7RTV3 ABBA01043589;ABBA01043590;ABBA01043591;AK091289;AL133477;AL160269;AMYH02021293;AMYH02021294;AMYH02021295;AMYH02021296;AMYH02021297;AY554164;AY554165;BC126141;BK000211;BX116676;CH471174;DR000756;NM_153695 AAI26142;AAS66302;AAS66303;DAA00067;EAW92649;EAW92650;NP_710162;Q7RTV3 Hs.494557 AFF29;CDC14B;FLJ33970;ZFF29 C2H2 zinc finger protein ZFF29;C2H2 zinc finger protein ZFF29a;CDC14 cell division cycle 14 homolog B;OTTHUMP00000021721 protein-coding ENSG00000165244 HGNC:18320 18330 610160 VALIDATED 7245459 ZNF350-AS1 ZNF350 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 19 19 q13.41 52452387 52484620 + 51949134 51981367 + 8554872 12477932;16344560 101669766 ABBA01068262;AC011460;AMYH02036394;BC014606;HG510985;NR_103847 Hs.637744 HCCAT3;uc002pyc APPROVED ncrna ENSG00000269235 HGNC:48598 VALIDATED 1314635 ZNF366 zinc finger protein 366 ENCODES a protein that exhibits estrogen receptor binding; transcription corepressor activity; INVOLVED IN negative regulation of intracellular estrogen receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; response to estrogen; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; progesterone 5 5 5 q13.2 67634623 67698641 - 71738238 71803249 - 72443407 72507422 - 1580863;6480464;8554872 11076863;11230166;12234665;12477932;14702039;15489336;16381901;16393996;17085477;17903296;19525478;20379614;20478364;21122099;22473304;22615205;23440419 167465 D6R9P7;F8W732;Q8N895 ABBA01061906;AC008457;AC093278;AK097115;AMYH02011554;BC029955;BC121053;BC121054;BK000210;BX647592;CH471084;NM_152625 AAI21054;AAI21055;BAC04954;CAI46096;CAL37884;DAA00066;EAW95707;NP_689838;Q8N895 Hs.370303 1754249;2130276;2220046;5037552 D8S2279;SHGC-132270;SHGC-17917;ZNF366__4833 DCSCRIPT;FLJ39796 OTTHUMP00000126957 protein-coding HGNC:18316 18329 610159 PROVISIONAL 2796115 ZNF37C zinc finger protein 37C, pseudogene 10 10 10 p11 37943324 37943802 + 38172548 38173026 + 37883620 37884098 + 79232 ABBA01033292;AL132659;AMYH02022658;NG_002660 BA775A3.1 APPROVED pseudo HGNC:29445 INFERRED 1605085 ZNF365 zinc finger protein 365 This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010] 10 10 10 q21.2 57401050 57698970 + 64133916 64431771 + 62374157 62672011 + 6480464;7240710;8554872 10048485;11309680;12477932;12740763;15164054;15363853;15489334;16385451;16617106;16682949;17043677;17554300;18587394;19191256;19760754;20222910;20379614;20453838;21072187;21102463;21257989;21278746;21832049;21908515;22327514;22351618;22412388;22449649;22747683;22936669;23042114;23535729;23535733;23593153;23776040;23966166;24204295 22891 C9J1G1;Q08ER3;Q495P1;Q70YC4;Q70YC5 AB020651;ABBA01019489;ABBA01019490;ABBA01019491;AC024597;AC024598;AC067751;AC067752;AJ505147;AJ505148;AJ505149;AJ505150;AK289515;AK289808;AMYH02023194;AY547355;BC017841;BC035049;BC044306;BC060817;BC070073;BC101082;BC101083;BC101084;BC101085;BF512570;BX647853;BX647904;CH471083;CQ866772;DB476702;KF510342;NG_021209;NM_014951;NM_199450;NM_199451;NM_199452 AAH17841;AAH35049;AAH60817;AAI01083;AAI01084;AAI01085;AAI01086;AAI52973;AAI56629;AAT27443;BAA74867;BAF82204;BAF82497;CAD43726;CAD43727;CAD43728;CAD43729;CAH25993;CAI46100;EAW54233;EAW54234;NP_055766;NP_955522;NP_955523;NP_955524;Q70YC4;Q70YC5 Hs.22653 1338425;1650505;1658423;2219768 D10S1652;G17489;WI-13670;ZNF365__4832 KIAA0844;MGC41821;MGC87345;Su48;UAN;ZNF365D OTTHUMP00000019672;OTTHUMP00000179095;OTTHUMP00000179097;OTTHUMP00000179098;talanin APPROVED protein-coding ENSG00000138311 HGNC:18194 06380 605990;607818 REVIEWED 1606933 ZNF37BP zinc finger protein 37B, pseudogene INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; ethyl methanesulfonate 10 10 10 q11.21 39012403 39051728 - 43008958 43048280 - 42513510 42552832 - 6480464 11181995;12477932;14702039;16344560;2014798;8464732;8889548 100129482 ABBA01049990;AK026980;AK123297;AK308832;AL022345;AMYH02022699;AMYH02022700;AMYH02022701;BC045697;BM151967;BU686118;CH471160;DA132273;DA394347;DB258164;DB268359;KF455223;KF455229;NR_026777 EAW86559;EAW86560;EAW86561;EAW86562 Hs.278064;Hs.684178 1336439;1644796;1659814;1849916;1850809;2109013;2122044;5022578 A007J03;D10S1746;D1S1423;RH11329;RH78962;SHGC-37176;STS-H83279;ZNF37A_8736 FLJ23327;FLJ41303;FLJ98873;KOX21;ZNF37B APPROVED pseudo ENSG00000234420 HGNC:13103 VALIDATED 1349259 ZNF384OS zinc finger protein 384 opposite strand 404213 U80760 HGNC:25101 1352355 ZNF382 zinc finger protein 382 This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 19 19 19 q13.12 33880792 33904099 + 37096207 37119499 + 36605305 36628597 + 1580863;6480464 11154279;12459182;12477932;14519192;14702039;20682794;21876767;22505724;9835615 84911 C9JME7;K7EK67;K7EQ52;Q96SR6 ABBA01016200;ABBA01016201;AC074138;AC092295;AF513816;AK027592;AL832265;AMYH02036019;AY227449;BC038358;BC132675;CD690493;NM_001256838;NM_032825 AAI32676;AAI56540;AAI72501;AAM48246;AAO72308;BAB55217;CAI46159;NP_001243767;NP_116214;Q96SR6 Hs.631591 1708856;1719079 RH123256;SHGC-83924 FLJ14686;KS1 KRAB/zinc finger suppressor protein 1;OTTHUMP00000045834;OTTHUMP00000208122;OTTHUMP00000208123;multiple zinc finger and krueppel-associated box protein KS1;multiple-zinc-finger-Kruppel-associated box protein KS1 APPROVED protein-coding ENSG00000161298 HGNC:17409 18331 609516 REVIEWED 1323532 ZNF383 zinc finger protein 383 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); intracellular (inferred); nucleus (inferred); INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; arsenous acid 19 19 19 q13.12 34501624 34518835 + 37708828 37734828 + 37217926 37243926 + 1580863;6480464;8554872 14702039;15964543;20211142;23870195 163087 K7EJN0;K7ELW4;Q8NA42 ABBA01016184;AC012309;AK091760;AK093182;AK122892;AMYH02036032;AMYH02036033;AY260141;AY438646;NM_152604;XM_005258585;XM_005258587;XM_005258588 AAI48613;AAP20067;AAR14184;BAC04086;BAG52412;NP_689817;Q8NA42;XP_005258642;XP_005258644;XP_005258645 Hs.590975 1337835;5037552 D19S570;D8S2279 FLJ35863;HSD17 protein-coding HGNC:18609 15786 PROVISIONAL 1604507 ZNF385C zinc finger protein 385C ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; hydrogen peroxide (ortholog); pirinixic acid (ortholog) 17 17 17 q21.2 36832645 36835757 - 40177594 40205881 - 42025576 42053863 - 6480464 12477932;15146197 201181 C9J6X6;Q66K41 ABBA01006441;AC105024;AMYH02033424;BC067901;BC080613;CN264203;H06009;NM_001242704;XM_005257130;XM_006721751 AAH80613;NP_001229633;Q66K41;XP_005257187;XP_006721814 Hs.443140 1647892;1661707;1666875;1697430;1856659 D17S1211;D17S1693;RH102215;WI-12446;WI-21902 OTTHUMP00000211618;OTTHUMP00000211619 protein-coding ENSG00000187595 HGNC:33722 13245 VALIDATED 1345674 ZNF384 zinc finger protein 384 This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011] 12 12 12 p12 8392661 8415699 - 6775643 6798738 - 6666477 6689572 - 1299380;1580863;6480464;8554872 11149472 11752456;11862394;11956602;12359745;12477932;14702039;15342556;15990865;16344560;16510139;18029348;18185522;19426707;19454010;20211142;21139048;21504714;21903422;23667531;9225980 171017 E9PHB3;F5GYZ1;F5H0D6;F5H105;F5H3Z9;F5H6N8;F5H8L7;F8W6Q3;Q8TF68;R4GMR4 AB070238;ABBA01017650;AC125494;AK095734;AK298784;AK298962;AL047622;AL047623;AMYH02025953;AV689743;BC053361;BM554320;BP312309;BP363856;BX401142;CA442809;CH471116;CR987433;CR993835;DA849784;DQ323638;DQ323639;KF455592;NM_001039920;NM_001135734;NM_133476;U80738;XM_006718963;XM_006718964;XM_006718965;XM_006718966;XM_006718967;XM_006718968;XM_006718969 AAB91437;AAH53361;ABD27869;ABD27870;BAB85125;BAC04618;BAG60923;BAG61058;EAW88755;EAW88756;EAW88757;EAW88758;EAW88759;EAW88760;NP_001035009;NP_001129206;NP_597733;Q8TF68;XP_006719026;XP_006719027;XP_006719028;XP_006719029;XP_006719030;XP_006719031;XP_006719032 Hs.103315;Hs.714839 1725713;1745925;1848837;2142486;2142950;2171968;2171970 A007A30;G62054;G64275;RH44540;RH45060;SHGC-63590;WI-20949 CAGH1;CAGH1A;CIZ;ERDA2;FLJ59043;NMP4;NP;TNRC1 CAG repeat protein 1;Cas-interacting zinc finger protein;OTTHUMP00000239247;OTTHUMP00000239248;OTTHUMP00000239249;OTTHUMP00000239250;expanded repeat domain, CAG/CTG 2;nuclear matrix protein 4;nuclear matrix transcription factor 4;trinucleotide repeat containing 1;trinucleotide repeat-containing gene 1 protein APPROVED protein-coding ENSG00000126746 HGNC:11955 18332 609951 REVIEWED 6481176 ZNF385D-AS2 ZNF385D antisense RNA 2 p24.3 100874221 AC096918;AI200816;AI392623;NR_046876 Hs.160616;Hs.604962 APPROVED ncrna HGNC:42420 VALIDATED 6481171 ZNF385D-AS1 ZNF385D antisense RNA 1 p24.3 100874216 AC009429;BG776698;CR738568;NR_046731 Hs.661720 APPROVED ncrna HGNC:41136 VALIDATED 1322504 ZNF385B zinc finger protein 385B ENCODES a protein that exhibits p53 binding; INVOLVED IN intrinsic apoptotic signaling pathway by p53 class mediator; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine; aflatoxin B1 2 2 2 q31.2-q31.3 173901060 174320479 - 180306709 180726232 - 179441982 179861505 - 737633;6480464;8554872 12477932 14702039;15489334;16344560;19240061;19401682;20379614;20849254;21658281;22945289;23029477;24457600 151126 C9J0U3;C9JKK0;C9JPH4;E9PB85;Q569K4 ABBA01062260;ABBA01062261;ABBA01062262;AC062033;AC068042;AC092642;AC093604;AK057999;AK096822;AMYH02005342;BC033042;BC038422;BC048123;BC092423;BX443173;CH471058;DA993893;NM_001113397;NM_001113398;NM_001282725;NM_152520;NR_104234;XM_006712321;XM_006712322;XM_006712323;XM_006712324 AAH38422;AAH48123;AAH92423;AAY24285;AAY24322;AAY24346;BAB71629;BAC04870;EAX11004;EAX11005;NP_001106868;NP_001106869;NP_001269654;NP_689733;Q569K4;XP_006712384;XP_006712385;XP_006712386;XP_006712387 Hs.655005 1676368;1677076;1704910;1727221;1734916;1761987;1772753;1772755;1773197;1776245;2116932;2122140;2146029;2162147;2166389;2175867 A004T05;D2S1688E;G62865;HSCZWH062;RH16619;RH70245;RH79969;RH92369;SHGC-145912;SHGC-30595;SHGC-30987;SHGC-33600;SHGC-62009;SHGC-79932;WI-13543;WIAF-1675 FLJ25270;ZFN533;ZNF533 OTTHUMP00000206077;OTTHUMP00000206078;OTTHUMP00000206079;OTTHUMP00000206102;OTTHUMP00000206106;zinc finger protein 533 protein-coding ENSG00000144331 HGNC:26332 15823 612344 VALIDATED 1354143 ZNF385D zinc finger protein 385D ENCODES a protein that exhibits nucleic acid binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); methamphetamine 3 3 3 p24.3 21404079 21734374 - 21459911 22414132 - 21418419 22372641 - 737633;1580863;6480464;8554872 12477932 11181995;14702039;15489334;17207965;18711365;18821565;20205591;20379614;20522523;23192594;23362303;23382691;24024963;24024966 79750 F8WEJ0;Q9H6B1 ABBA01025060;ABBA01025061;AC009429;AC023798;AC092504;AC092505;AC096914;AC096918;AC098974;AC104183;AC138122;AK026072;AK310298;AMYH02006382;AMYH02006383;AMYH02006384;AMYH02006385;AMYH02006386;AMYH02006387;AMYH02006388;BC007212;CH471055;KC876900;KF510843;NM_024697;XM_005265485;XM_005265486;XM_005265487;XM_005265488;XM_006713336;XM_006713337 AAH07212;ADQ31786;BAB15350;EAW64312;EAW64313;EAW64317;EAW64318;NP_078973;Q9H6B1;XP_005265542;XP_005265543;XP_005265544;XP_005265545;XP_006713399;XP_006713400 Hs.21026 1668417;1681742;1695178;1705008;1718489;1739781;1760207;1774481;2115700;2121471;2122980;2160481;2177001 D3S2414;D3S3478E;G48229;RH122446;RH66256;RH92414;SHGC-132489;SHGC-33079;SHGC-76762;SHGC-76765;SHGC-76768;SHGC-78019;WI-21102 FLJ22419;ZNF659 OTTHUMP00000161051;zinc finger protein 659 protein-coding ENSG00000151789 HGNC:26191 07990 VALIDATED 1354133 ZNF394 zinc finger protein 394 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH atrazine; cobalt dichloride; copper(2+) sulfate 7 7 7 q22.1 93825054 93832084 - 99084142 99097925 - 99486519 99500302 - 6480464 12477932;12690205;14702039;15249231;15489334;22505724;8125298 84124 Q53GI3 ABBA01013259;AC073063;AJ297365;AK022360;AK172865;AK222948;AMYH02016361;AY642122;BC017051;BC025241;BC051847;CH236956;CH471091;NM_032164;XM_005250638;XM_005250639 AAH17051;AAH25241;AAH51847;AAT67053;ABZ92205;BAB14021;BAD96668;CAB95950;EAL23874;EAW76659;NP_115540;Q53GI3;XP_005250695;XP_005250696 Hs.386324 FLJ12298;ZKSCAN14;ZSCAN46 OTTHUMP00000206365;zinc finger protein 99;zinc finger protein with KRAB and SCAN domains 14 protein-coding ENSG00000160908 HGNC:18832 18333 PROVISIONAL 1606101 ZNF391 zinc finger protein 391 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; paracetamol; valproic acid 6 6 6 p22.1 28962499 28975220 + 27356524 27371683 + 27375112 27403904 + 6480464;8554872 12477932;14702039;16344560;24250222 346157 C9JUF8;Q9UJN7 ABBA01037994;AK092633;AK294965;AL031118;AMYH02013382;BC035154;BC132797;BX282552;CH471081;DB221901;NM_001076781;U80232;XM_005249082;XM_006715086 AAD00353;AAI56668;BAG58038;EAX03096;NP_001070249;Q9UJN7;XP_005249139;XP_006715149 Hs.651176;Hs.670888 dJ153G14.3 OTTHUMP00000016180;OTTHUMP00000214625 protein-coding HGNC:18779 18461 VALIDATED 1347461 ZNF396 zinc finger protein 396 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm (inferred); nucleus (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 18 18 18 q12 29754500 29765152 - 32946661 32957301 - 35366697 35377337 - 1580863;6480464 12477932;12801647;14702039;20211142;24324551 252884 K7EK38;K7ERR8;Q96N95 ABBA01022448;AC007998;AF492004;AF533251;AK055775;AMYH02034551;AMYH02034552;BC036765;BC130288;BC136314;CH471088;NM_145756;XM_005258236;XM_005258237;XM_006722432 AAI30289;AAI36315;AAM09559;AAM95992;ADR83130;BAB71010;EAX01352;EAX01353;EAX01354;NP_665699;Q96N95;XP_005258293;XP_005258294;XP_006722495 Hs.351005 1689965;5037552 D8S2279;RH76055 FLJ31213;ZSCAN14 OTTHUMP00000163379;OTTHUMP00000163380;zinc finger and SCAN domain-containing protein 14 protein-coding ENSG00000186496 HGNC:18824 18334 609600 VALIDATED 1317282 ZNF395 zinc finger protein 395 ENCODES a protein that exhibits DNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 8 8 8 p21.1 27162953 27203836 - 28203102 28243983 - 28345585 28386460 - 1580863;6480464;8554872 11853404;12477932;14625278;14702039;15289353;15489334;17531190;17897615;19018758;19322201;21988832;23142027;23760207;24086395 55893 E5RFV4;E5RG59;E5RGF1;E5RH90;H0YAN1;Q7L9C8;Q9H8N7 AB044750;AB044751;AB044752;AB057659;AB073627;ABBA01005597;ABBA01005598;AC021678;AC025871;AF263928;AI049727;AK002050;AK021850;AK023418;AK026076;AK098243;AK312078;AL137588;AMYH02017683;AMYH02017684;AX878076;BC001237;BC002919;BC008870;BC063660;BG249131;BG759384;BI917232;CB960515;CH471080;NM_018660 AAF73463;AAH01237;ABZ92352;BAA92056;BAA96783;BAA96784;BAA96785;BAB14571;BAB15352;BAB39851;BAD29734;BAG35014;BAG53599;CAE89999;EAW63519;EAW63520;EAW63521;EAW63522;EAW63523;EAW63524;NP_061130;Q9H8N7 Hs.435535;Hs.695998 1650305;1739147;1745919;1769982;1770871;1850342;1852680;2118359;2152739;2153788;2172091 1814;A002O09;D8S1065;D8S1407E;D8S1549;G09787;G64297;RH66113;RH78217;RH78605;STS-R33496 DKFZp434K1210;HDBP-2;HDBP2;HDRF-2;PBF;PRF-1;PRF1;Si-1-8-14 HD gene regulatory region-binding protein 2;HD-regulating factor 2;Huntington's disease gene regulatory region-binding protein 2;OTTHUMP00000128330;OTTHUMP00000225341;OTTHUMP00000225342;huntington disease gene regulatory region-binding protein 2;papillomavirus regulatory factor 1;papillomavirus regulatory factor PRF-1;papillomavirus-binding factor protein-coding ENSG00000186918 HGNC:18737 11711 609494 VALIDATED 1348699 ZNF39L2 zinc finger protein 39-like 2 (KOX 27) 2014798 7591 HGNC:13106 1314512 ZNF397 zinc finger protein 397 This gene encodes a protein with a N-terminal SCAN domain, and the longer isoform contains nine C2H2-type zinc finger repeats in the C-terminal domain. The protein localizes to centromeres during interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but their biological validity has not been determined. [provided by RefSeq, Oct 2009] 18 18 18 q12.2 29628890 29646298 + 32820994 32838397 + 35241030 35258433 + 1580863;6480464 12477932;12801647;14702039;1505991;15489334;16344560;18029348;18369653;20211142;21890473;21906983;22505724 84307 K7EIM5;K7ERU5;M0R288;Q8NF99;Q96K65 AA805259;ABBA01022451;AC011815;AF533250;AK027384;AK311533;AMYH02034551;AY157641;BC006172;BI772202;CH471088;DB047444;NG_015815;NM_001135178;NM_032347;XM_006722558;XM_006722559 AAH06172;AAM95991;AAN65175;ABZ92206;BAB55075;EAX01341;EAX01342;EAX01343;NP_001128650;NP_115723;Q8NF99;XP_006722621;XP_006722622 Hs.591061 1684694;1687107;1754613;2174470;2175409 RH16480;RH69802;RH78807;SHGC-132945;SHGC-34458 MGC13250;ZNF47;ZSCAN15 zinc finger and SCAN domain-containing protein 15;zinc finger protein 47 APPROVED protein-coding ENSG00000186812 HGNC:18818 18335 609601 REVIEWED 1343788 ZNF402P zinc finger protein 402, pseudogene 22 22 22 q11.1 960300 963995 - 17338026 17341721 - 16857136 16860831 - 266673 ABBA01001462;AC006548;AC007064;AMYH02037983;NG_002664 APPROVED pseudo HGNC:19292 INFERRED 1321155 ZNF409 zinc finger protein 409 q11.2 1580863 10470851;18029348 22830 AB028979;AL135999;BC131533;XM_375065;XM_941446 AAI31534;BAA83008;Q9UPU6;XP_375065;XP_946539 Hs.508937 FLJ42478 protein-coding HGNC:20042 1346088 ZNF404 zinc finger protein 404 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene; cadmium atom; copper atom 19 19 19 q13.31 41180043 41191643 - 44376515 44388116 - 43872363 43883964 - 6480464 12477932;12743021;8889548 342908 Q494X3 ABBA01040871;AC011508;AK300120;AMYH02036174;AY166785;BC101332;BC101333;BQ188692;CH471126;NM_001033719;XM_006723186 AAI01333;AAI01334;AAO45834;BAG61912;EAW57234;NP_001028891;Q494X3;XP_006723249 Hs.76561 2148380 SHGC-33269 MGC120455 protein-coding ENSG00000176222 HGNC:19417 18787 VALIDATED 1315189 ZNF408 zinc finger protein 408 ENCODES a protein that exhibits identical protein binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-fluorouracil; copper(2+) sulfate 11 11 11 p11.2 46870748 46875897 + 46722317 46727466 + 46700767 46705916 + 1580863;6480464 12477932;14667819;14702039;15231747;15489334;16189514;16344560;18255255;18482256;19060904;19801982;20211142;22504420;23716654 79797 B4DXY4;Q9H9D4 ABBA01060733;AC115088;AF346626;AK022889;AK302180;AMYH02024711;AW246726;BC013355;BC015708;CH471064;DA015297;NM_001184751;NM_024741 AAH13355;AAH15708;AAK29075;ABZ92061;ACT64457;ACT64458;BAB14295;BAG63546;EAW67981;NP_001171680;NP_079017;Q9H9D4 Hs.656931 1858429;2124258 RH11922;RH36421 FLJ12827 OTTHUMP00000233494;PR domain zinc finger protein 17 protein-coding ENSG00000175213 HGNC:20041 18338 VALIDATED 1344883 ZNF407 zinc finger protein 407 This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 18 18 18 q23 69163335 69596635 + 72265106 72777628 + 74597870 75065673 + 1580863;6480464;8554872 11214970;14702039;16344560;19690890;19913121;20211142;20379614;20628086;21145461;21906983;22675492;23195952 55628 Q9C0G0 AB051490;ABBA01015263;ABBA01015264;ABBA01015265;ABBA01015266;ABBA01015267;AC015819;AC023380;AC091589;AC100783;AC138660;AK000314;AK000317;AK023901;AK056288;AK128356;AMYH02034994;AMYH02034995;AMYH02034996;AMYH02034997;AUXG01000170;CH471117;DB096147;FP565322;FP565799;NG_013216;NM_001146189;NM_001146190;NM_017757;XM_005266726;XM_006722500;XM_006722501 BAA91077;BAA91080;BAB21794;BAB71139;EAW66565;EAW66566;NP_001139661;NP_001139662;NP_060227;Q9C0G0;XP_005266783;XP_006722563;XP_006722564 Hs.536490 1647533;1667852;1676494;1695268;1703952;1708284;1719083;1719643;1762717;1783762;1788996;2116818;2120738;2180269;2181317;5125910 D18S489;D18S839;G65577;RH123258;RH123726;RH91533;SGC36924;SHGC-146505;SHGC-17251;SHGC-30832;SHGC-30835;SHGC-62985;SHGC-68475;SHGC-79409;SHGC-83665;WI-18089 FLJ13839;FLJ20307;KIAA1703 APPROVED protein-coding ENSG00000215421 HGNC:19904 11713 615894 REVIEWED 1346984 ZNF41 zinc finger protein 41 This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. Several alternatively spliced transcript variants have been described, however, the full-length nature of only some of them is known. [provided by RefSeq, Jul 2008] X X X p11.23 51500825 51537610 - 47305281 47343070 - 47446162 47483671 - 1580863;6480464;7240710 10449920;12477932;14628291;15231748;15489334;15772651;1945843;20211142;2037297;24250222;8088786 7592 B1AQ29;P51814 AB209520;ABBA01052362;ABBA01052363;ABBA01052364;AJ010017;AJ010018;AJ010019;AJ010020;AJ010021;AJ010022;AJ010023;AK290021;AK294858;AL590223;AL590283;AMYH02039281;AMYH02039282;AMYH02039283;BC015023;CH471164;M92443;NG_008238;NM_007130;NM_153380;X60155;XM_005272665;XM_005272666;XM_005272668;XM_005272669;XM_006724550;XM_006724551;XM_006724552;XM_006724553;XM_006724554;XM_006724555;XM_006724556;XM_006724557;XM_006724558;Z84466 AAA61312;AAH15023;ABZ92439;ADZ16042;BAD92757;BAF82710;BAG57962;CAB51740;CAB53035;CAB53036;CAB53037;CAB53038;CAB53039;CAB53040;CAB53041;EAW59300;EAW59301;EAW59302;EAW59303;EAW59304;EAW59305;EAW59306;EAW59307;EAW59308;NP_009061;NP_700359;P51814;XP_005272722;XP_005272723;XP_005272725;XP_005272726;XP_006724613;XP_006724614;XP_006724615;XP_006724616;XP_006724617;XP_006724618;XP_006724619;XP_006724620;XP_006724621 Hs.496074;Hs.737678 1702148;1740203;7184019;7184686 DXS1004E;DXS7585 MGC8941;MRX89 OTTHUMP00000023219;OTTHUMP00000023220;OTTHUMP00000023221 APPROVED protein-coding ENSG00000147124 HGNC:13107 02447 300848;314995 REVIEWED 8549098 ZNF415P1 zinc finger protein 415 pseudogene 1 18 18 18 9669100 9671839 + 9785124 9787863 + 9785127 9787866 + 100419893 ABBA01049955;AMYH02034293;AP000902;NG_026310 pseudo HGNC:49869 INFERRED 1603942 ZNF414 zinc finger protein 414 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsane; arsenic atom; hydroquinone O-beta-D-glucopyranoside 19 19 19 p13.2 8433126 8436712 - 8575462 8579048 - 8510578 8514164 - 6480464 12477932;15489334;16189514;16344560;21044950 84330 M0R0Q5;M0R1G8;M0R2Q9;M0R398;Q96IQ9 ABBA01010841;AC092298;AI937020;AK074191;AK225034;AMYH02035444;BC007310;BC071937;BM141801;BQ773835;BU621653;CH471139;DA257941;NM_001146175;NM_032370;XM_006722922 AAH07310;AAH71937;ABZ92068;EAW68913;EAW68914;EAW68915;EAW68916;NP_001139647;NP_115746;Q96IQ9;XP_006722985 Hs.515114 2191497 MARC_24085-24086:1037392210:1 MGC15716;Zfp414 protein-coding ENSG00000133250 HGNC:20630 17511 VALIDATED 1313783 ZNF410 zinc finger protein 410 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene diol epoxide I; cyclosporin A 14 14 14 q24.3 54390533 54435749 + 74353318 74398991 + 73886615 73932288 + 6480464;8554872 12370286;12477932;15489334;16169070;18470879;20211142;20379614;21832049;8125298;8619474;9110174 57862 G3V2C2;G3V2G5;G3V2V5;G3V369;G3V398;G3V3W2;G3V4E6;G3V4H7;G3V4W2;G3V565;H0YJI7;J3KNQ6;Q53FM1;Q86VK4 AA652386;ABBA01030740;ABBA01030741;ABBA01030742;AC005480;AC005520;AK223261;AK293350;AK298307;AK298520;AK299138;AK301382;AK303834;AK304609;AK309957;AK310031;AK315206;AMYH02029502;BC000330;BC004357;BC050683;CH471061;DC379519;NM_001242924;NM_001242926;NM_001242927;NM_001242928;NM_021188;NR_040251;U90919 AAB51059;AAH50683;ABZ92368;BAD96981;BAG37643;BAG56866;BAG60561;BAG60724;BAG61190;BAG62922;BAG64780;BAG65394;EAW81136;EAW81137;EAW81138;EAW81139;EAW81140;EAW81141;EAW81142;EAW81143;NP_001229853;NP_001229855;NP_001229856;NP_001229857;NP_067011;Q86VK4 Hs.270869 1661352;1740691;2133244;2133246;2154839;5022651 A002U02;A006H11;D11S2921;D14S1179;D14S705E;G20802 APA-1;APA1 OTTHUMP00000245595;OTTHUMP00000245597;OTTHUMP00000245603;OTTHUMP00000245605;OTTHUMP00000245609;another partner for ARF 1;clones 23667 and 23775 zinc finger protein;zinc finger protein APA-1 protein-coding ENSG00000119725 HGNC:20144 18339 VALIDATED 1350513 ZNF415 zinc finger protein 415 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN microtubule cytoskeleton; nucleolus; INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; atrazine 19 19 19 q13.42 50658663 50683384 - 53611132 53636173 - 53107879 53133077 - 1580863;6480464 12477932;14702039;16344560;17055453;18029348;22505724;8619474;8889549;9110174 55786 M0QX59;M0QXZ4;M0QZ38;M0QZA6;M0R0D9;M0R0R1;M0R191;M0R1N1;M0R2I1;M0R2T6;M0R358;Q09FC8 AA125787;ABBA01068222;ABBA01068223;ABBA01068224;AC010328;AF038179;AK002053;AK095504;AL534796;AMYH02036417;AMYH02036418;AY283600;BC063880;BC069668;CH471135;DA075573;DA367299;DA518713;DA692431;DB285275;DQ925695;DQ925696;DQ925697;DQ925698;NM_001136038;NM_001164309;NM_018355;NR_028343;R40095;XM_006723267;XM_006723268;XM_006723269;XM_006723270;XM_006723271;XM_006723272;XM_006723273;XM_006723274;XM_006723275;XM_006723276;XM_006723277;XM_006723278;XM_006723279;XM_006723280;XM_006723281;XM_006723282 AAH63880;AAH69668;AAP35086;ABI51309;ABI51310;ABI51311;ABI51312;ABZ92349;BAA92059;BAG53073;EAW72115;EAW72116;EAW72117;EAW72118;NP_001129510;NP_001157781;NP_060825;Q09FC8;XP_006723330;XP_006723331;XP_006723332;XP_006723333;XP_006723334;XP_006723335;XP_006723336;XP_006723337;XP_006723338;XP_006723339;XP_006723340;XP_006723341;XP_006723342;XP_006723343;XP_006723344;XP_006723345 Hs.147765 2144961;2145397;2163778;2163780 A006J12;D19S679E;G20866;SHGC-32227 FLJ11191 protein-coding ENSG00000170954 HGNC:20636 18340 VALIDATED 1346172 ZNF416 zinc finger protein 416 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; benzene; methyl methanesulfonate 19 19 19 q13.4 55126512 55133821 - 58082387 58090266 - 57571019 57578898 - 6480464 12477932;14702039;15489334 55659 Q9BWM5 ABBA01020806;AC003682;AK000564;AMYH02036518;BC000130;CH471135;NM_017879;XM_005259051 AAC24607;AAH00130;ABZ92347;BAA91257;EAW72514;EAW72515;NP_060349;Q9BWM5;XP_005259108 Hs.247711 FLJ20557 protein-coding ENSG00000083817 HGNC:20645 07926 PROVISIONAL 1344195 ZNF417 zinc finger protein 417 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; pirinixic acid (ortholog) 19 19 19 q13.43 55460622 55471458 - 58417142 58427978 - 57905774 57916610 - 6480464 12477932;15342556;15489334;16189514 147687 M0QXH9;M0R0M6;M0R0V5;M0R178;M0R230;M0R267;Q8TAU3 ABBA01020793;ABBA01020794;AC010326;AK293789;AMYH02036523;BC025783;BC103757;BP358797;CH471135;DB097766;NM_001297734;NM_152475;XM_006723029 AAH25783;BAG57202;EAW72541;NP_001284663;NP_689688;Q8TAU3;XP_006723092 Hs.567710 2182278;5014003;5016596;5037552;5109281;5120437 D17S1136;D19S1070;D1S1425;D8S2279;GDB:315881;GDB:631802 MGC34079 protein-coding ENSG00000173480 HGNC:20646 18341 VALIDATED 1353630 ZNF418 zinc finger protein 418 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH cadmium dichloride; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.43 55476733 55490220 - 58433252 58446795 - 57921884 57935429 - 1580863;6480464 11853319;12477932;14702039;15489334;18084723;20936779;21906983 147686 J3KQR4;M0QX21;M0QX82;M0QXB3;M0QYW9;M0R1R2;Q8TF45 AB075836;ABBA01020790;ABBA01020791;AC010326;AK056113;AK293723;AK304632;AMYH02036523;AY695825;BC112244;BC113707;CH471135;NM_133460;XM_005258532;XM_006723023;XM_006723024;XM_006723025;XM_006723026;XM_006723027;XM_006723028 AAI12245;AAI13708;AAU05132;ADR83116;ADR83237;BAB71096;BAB85542;BAH11579;BAH14229;EAW72542;NP_597717;Q8TF45;XP_005258589;XP_006723086;XP_006723087;XP_006723088;XP_006723089;XP_006723090;XP_006723091 Hs.660728 1683223;2131346;5121442 L18443;RH46260;RH98684 FLJ31551;KIAA1956;MGC138449 protein-coding ENSG00000196724 HGNC:20647 11714 PROVISIONAL 1349955 ZNF420 zinc finger protein 420 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); PARTICIPATES IN p53 signaling pathway; FOUND IN extracellular vesicular exosome; INTERACTS WITH amiodarone; arsenite(3-); ethyl methanesulfonate 19 19 19 q13.12 34353626 34404901 + 37569319 37621221 + 37078414 37130357 + 6480464;8662965 20679336 11157984;12477932;14702039;15489334;19377469;19629643;20713054;21988832;22334068;22505724 147923 K7EJW2;K7ELF6;K7EPG0;K7EQC9;K7ERS3;K7ESJ1;Q8TAQ5 ABBA01016186;AC010632;AC012309;AK056695;AK056753;AK315728;AMYH02036030;AMYH02036031;BC026210;NM_144689;XM_006723038;XM_006723039;XM_006723040;XM_006723041 AAH26210;BAB71272;BAG38083;NP_653290;Q8TAQ5;XP_006723101;XP_006723102;XP_006723103;XP_006723104 Hs.444992 1698912;5094090 G34967;RH103025 APAK;FLJ32191 ATM and p53-associated KZNF protein;OTTHUMP00000045843;OTTHUMP00000045844 protein-coding ENSG00000197050 HGNC:20649 08122 PROVISIONAL 1602863 ZNF419 zinc finger protein 419 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (+)-catechin; copper(2+) sulfate; ethyl methanesulfonate 19 19 19 q13.43 55042783 55049752 + 57999079 58006048 + 57487711 57494680 + 6480464 12477932;14702039;15342556;15489334;16344560;18029348;20379614;21890473 79744 A6NNZ3;E5RGL3;E5RH62;E5RHS2;E5RHW2;E5RHZ9;E5RI89;E5RIA3;E5RJT6;Q96HQ0 AB209371;ABBA01020807;AC003005;AK026886;AK302135;AK304569;AK307802;AK309427;AK316156;AK316297;AMYH02036517;BC008297;BC024259;BF110540;BP336834;CH471135;CT002615;DA548110;DB004191;DC315347;DC392630;DC407547;DC425209;KF459703;NM_001098491;NM_001098492;NM_001098493;NM_001098494;NM_001098495;NM_001098496;NM_001291743;NM_001291744;NM_001291745;NM_024691 AAH08297;AAH24259;ADZ16070;BAB15582;BAD92608;BAG63509;BAG65360;BAH14527;BAH14668;EAW72504;EAW72505;EAW72506;NP_001091961;NP_001091962;NP_001091963;NP_001091964;NP_001091965;NP_001091966;NP_001278672;NP_001278673;NP_001278674;NP_078967;Q96HQ0 Hs.744339 1677396;5015861;5020274;5022578;7185938 D10S16;D1S1423;L18441;RH98515 FLJ23233;ZNF419A OTTHUMP00000035141;OTTHUMP00000226564;OTTHUMP00000226566;OTTHUMP00000226567;OTTHUMP00000226568;OTTHUMP00000226569;OTTHUMP00000226570;OTTHUMP00000226571;OTTHUMP00000226584;OTTHUMP00000226585;OTTHUMP00000226608;zinc finger protein 419A protein-coding ENSG00000105136 HGNC:20648 08665 VALIDATED 1349491 ZNF424 zinc finger protein 424 347683 HGNC:20689 1344492 ZNF423 zinc finger protein 423 The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012] 16 16 16 q12 34037933 34374016 - 49524515 49891830 - 49490604 49857919 - 6480464;7240710;8554872 10660046;12136093;12477932;14623329;14630787;14702039;15146197;15203218;16713569;18519826;18821565;19345331;20017333;20301743;20359360;20379614;22863007;23382691;23503679;23878065;24081948;7829101;8889548;9151733;9872452 23090 B3KNG7;F5H7S1;Q2M1K9 AB018303;ABBA01000886;ABBA01000887;ABBA01000888;ABBA01000889;ABBA01000890;ABBA01000891;AC007339;AC007603;AC007607;AC007861;AC027348;AF221712;AK027479;AK304829;AK309835;AK314742;AMYH02031998;AMYH02031999;AMYH02032000;AMYH02032001;AMYH02032002;AMYH02032003;AMYH02032004;AMYH02032005;AW022965;BC112315;BC112317;BU733621;CD626621;CH471092;CN396210;KF456193;NG_032972;NM_001271620;NM_015069;XM_005255855;XM_005255856;XM_005255857;XM_006721171 AAF28354;AAI12316;AAI12318;ADR83438;BAA34480;BAG51329;BAH14263;EAW82735;NP_001258549;NP_055884;Q2M1K9;XP_005255912;XP_005255913;XP_005255914;XP_006721234 Hs.530930;Hs.744482 1336330;1341044;1341812;1664593;1670634;1685345;1729529;1738541;1738635;1738767;1738835;1756345;1761117;1762739;1764573;1768789;2110091;2179026;7184919 D16S2614;D16S2715;D16S2768;D16S2851;D16S2889;D16S290;D16S3080;D16S3237;D16S411;D16S517;RH65128;RH66276;SHGC-143325;SHGC-145121;SHGC-146527;SHGC-148166;SHGC-60816;ZNF423_9303 JBTS19;KIAA0760;MGC138520;MGC138522;NPHP14;OAZ;Roaz;ZFP423;Zfp104;hOAZ Ebfaz;OLF-1/EBF associated zinc finger;Smad- and Olf-interacting zinc finger protein;early B-cell factor associated zinc finger protein;olf1/EBF-associated zinc finger protein APPROVED protein-coding ENSG00000102935 HGNC:16762 05189 604557;614844 REVIEWED 1343141 ZNF427 zinc finger protein 427 347692 HGNC:20752 1603271 ZNF428 zinc finger protein 428 ENCODES a protein that exhibits metal ion binding (inferred); INTERACTS WITH 17beta-estradiol; paracetamol; pirinixic acid 19 19 19 q13.31 40913857 40926508 - 44111376 44124298 - 43607224 43620146 - 6480464 12477932;15146197;19759913;22990118;23824909;24250222 126299 I6L9C8;M0QXZ5;Q96B54 AA215292;ABBA01040863;AC005525;AC006276;AI569354;AMYH02036168;AMYH02036169;AY257197;BC015950;BC045799;BE901751;BG121932;CH471126;CN355560;NM_182498;XM_005258517 AAC99795;AAH15950;AAH45799;AAP87382;ACE87310;EAW57209;EAW57210;NP_872304;Q96B54;XP_005258574 Hs.99093 1689171;2130803;2130805 RH47366;RH92219;SHGC-34531 C19orf37;MGC51082;Zfp428 enzyme-like protein PIT13 protein-coding ENSG00000131116 HGNC:20804 14671 VALIDATED 1318534 ZNF426 zinc finger protein 426 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; atrazine; benzo[a]pyrene diol epoxide I 19 19 19 p13.2 9534129 9544758 - 9638667 9649638 - 9527991 9538958 - 1580863;6480464 11711586;12477932;14702039;15489334;16189514;17409159;18216089;19322201;19592062;21890473;22505724;23824909 79088 K7EME3;K7ER43;Q9BUY5 AB209837;ABBA01029971;AC008567;AK095759;AMYH02035467;BC001791;BP245135;CH471106;KF456495;NM_001300883;NM_024106;XM_005260076;XM_005260077 AAH01791;ABM83450;ABM86662;BAD93074;BAG53124;EAW84038;EAW84039;EAW84040;NP_001287812;NP_077011;Q9BUY5;XP_005260133;XP_005260134 Hs.594011 MGC2663 protein-coding ENSG00000130818 HGNC:20725 15787 PROVISIONAL 1349572 ZNF429 zinc finger protein 429 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenous acid; copper(2+) sulfate 19 19 19 p12 21523167 21555810 + 21688437 21721079 + 21505635 21538277 + 6480464 14702039;19207018;22505724;7865130 353088 M0QYC4;M0QZ47;Q86V71 ABBA01051378;ABBA01051379;ABBA01051380;ABBA01051381;AC010615;AF325191;AK057495;AK308708;AMYH02035805;AMYH02035806;AY269786;CH471106;KC877715;NM_001001415 AAI56456;AAI72531;AAK01422;AAP30884;EAW84901;NP_001001415;Q86V71 Hs.572567;Hs.709598 1783850;2150708;5015619;5021872;5037552 D11S3114;D19S1140;D8S2279;SHGC-79392;sY3084 protein-coding ENSG00000197013 HGNC:20817 18342 PROVISIONAL 1349254 ZNF43 zinc finger protein 43 This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008] 19 19 19 p13.1-p12 21819896 21851121 - 21987751 22034870 - 21804949 21852068 - 1580863;6480464;8554872 11076863;11256614;12477932;14702039;15489334;15489336;16344560;16381901;1711675;17178891;2014798;2023909;22505724;2288909;8467795 7594 M0QXI2;M0QYJ6;M0R0T7;M0R3D5;P17038 ABBA01051394;ABBA01051395;ABBA01051396;ABBA01051397;AC010617;AC092364;AK022905;AK291353;AMYH02035812;AMYH02035813;AMYH02035814;AMYH02035815;AMYH02035816;AMYH02035817;BC006528;BT009756;BU786847;BX471947;CH471106;CR933640;DA784080;DB158705;DB446440;DR002502;M61869;NM_001256648;NM_001256649;NM_001256650;NM_001256651;NM_001256653;NM_001256654;NM_003423;X52358;X59244;XM_005260057 AAA58674;AAH06528;AAP88758;BAF84042;CAA36584;CAA41932;CAI45941;CAL37453;CAL37522;EAW84908;EAW84909;NP_001243577;NP_001243578;NP_001243579;NP_001243580;NP_001243582;NP_001243583;NP_003414;P17038;XP_005260114 Hs.534365 2220430;5022200;5022651;5037552 D11S2921;D8S2279;L18426;UniSTS:481985 DKFZp686L1854;HTF6;KOX27;ZNF39L1 OTTHUMP00000158679;zinc finger protein 39;zinc finger protein 39-like 1 (KOX 27);zinc finger protein 43 (htf6);zinc finger protein HTF6;zinc finger protein KOX27;zinc protein HTF6 APPROVED protein-coding ENSG00000198521 HGNC:13109 04917 603972 VALIDATED 1605269 ZNF431 zinc finger protein 431 ENCODES a protein that exhibits chromatin binding (ortholog); core promoter sequence-specific DNA binding (ortholog); INVOLVED IN negative regulation of sequence-specific DNA binding transcription factor activity (ortholog); negative regulation of transcription from RNA polymerase II promoter (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p12 21159806 21203745 + 21324813 21371070 + 21142010 21186002 + 6480464 11853319;12477932;14702039;15489334;15576338;21177534;21900206;22505724 170959 M0QXY3;M0QZG4;M0QZN7;M0R1H8;Q8TF32 AB075849;ABBA01051369;ABBA01051370;AC010620;AK021615;AK024160;AK293072;AK308127;AMYH02035799;AMYH02035800;BC040506;BX647597;CH471106;NM_133473;XM_005259794;XM_005259795;XM_005259797;XM_006722672;XM_006722673 AAH40506;BAB85555;BAF85761;EAW84888;EAW84889;EAW84890;NP_597730;Q8TF32;XP_005259851;XP_005259852;XP_005259854;XP_006722735;XP_006722736 Hs.656394;Hs.687547 2164799;2220430;2220626;5015861;5037552;5492395;7185938 D10S16;D8S2279;SHGC-53117;UniSTS:480893;UniSTS:481985;UniSTS:486333 DKFZp313E0830;KIAA1969 protein-coding HGNC:20809 15789 VALIDATED 1353435 ZNF430 zinc finger protein 430 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN substantia nigra development; ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; cobalt dichloride 19 19 19 p12 21038347 21077808 + 21203426 21242852 + 21020620 21060046 + 1580863;6480464;8554872 12477932;14702039;16344560;21890473;22082156;22505724 80264 A8K360;M0QXG3;M0QYF1;M0R0L5;M0R392;Q2NKJ9;Q9H8G1 ABBA01051364;AC008739;AC012627;AK023721;AK290475;AL832422;AMYH02035798;AY269787;BC111776;CH471106;DB255551;NM_001172671;NM_025189;XM_005260081;XM_005260082;XM_005260083;XM_006722909 AAI11777;AAP30885;BAB14656;BAF83164;CAH10650;EAW84884;NP_001166142;NP_079465;Q9H8G1;XP_005260138;XP_005260139;XP_005260140;XP_006722972 Hs.729202 2220430;2220626;5014023;5015961;5016865;5022578;5037552;5492395 D13S1553;D15S1477;D1S1423;D8S2279;RH39204;UniSTS:480893;UniSTS:481985;UniSTS:486333 DKFZp762K012;FLJ13659;MGC133232 protein-coding ENSG00000118620 HGNC:20808 15788 VALIDATED 1350152 ZNF432 zinc finger protein 432 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (+)-catechin; arsenite(3-); copper(2+) sulfate 19 19 19 q13.41 49586235 49601631 - 52536677 52552073 - 52033424 52048820 - 1580863;6480464;8554872 12477932;15489334;16777052;24280104;9872452 9668 M0QZ71;M0R0E2;M0R0H8;M0R258;O94892 AB018341;ABBA01068262;AC011468;AK292827;AMYH02036394;BC002858;CH471135;KF456602;NM_014650 AAH02858;ABZ92278;BAA34518;BAF85516;EAW72060;EAW72062;NP_055465;O94892 Hs.655934 1338022;2115327;2120770;5016596 D19S206;GDB:631802;SHGC-30985;WI-11509 protein-coding ENSG00000256087 HGNC:20810 11716 PROVISIONAL 1345946 ZNF433 zinc finger protein 433 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4,6-trinitrotoluene (ortholog) 19 19 19 p13.2 12019893 12040885 - 12125532 12146525 - 12014717 12035710 - 1580863;6480464 12477932;14702039;20598377;22505724 163059 C9JQA6;C9JUV2;F8VP42;F8VTV7;F8VU36;F8VXJ9;F8W0C9;F8W652;Q8N7K0 ABBA01029815;AC008770;AC022415;AK098300;AMYH02035540;BC047412;CH471106;KC877701;NM_001080411;XM_005259782;XM_006722659;XM_006722660;XM_006722661 AAH47412;ABZ92118;BAC05279;EAW84253;EAW84254;EAW84255;EAW84256;NP_001073880;Q8N7K0;XP_005259839;XP_006722722;XP_006722723;XP_006722724 Hs.667776 5016781 SHGC-67307 FLJ40981 OTTHUMP00000209866;OTTHUMP00000209867;OTTHUMP00000240911;OTTHUMP00000240912;OTTHUMP00000240913;OTTHUMP00000240915;OTTHUMP00000240916;OTTHUMP00000240917 protein-coding ENSG00000197647 HGNC:20811 15790 PROVISIONAL 1321577 ZNF436 zinc finger protein 436 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 8-bromo-3',5'-cyclic AMP; copper(2+) sulfate; ethyl methanesulfonate 1 1 1 p36 22015593 22026011 - 23685941 23696357 - 23359448 23369864 - 1580863;6480464 11214970;12477932;14702039;1505991;15489334;16710414;17089209;18029348;18187620;1946370;20211142;23455924 80818 Q9C0F3 AB051497;ABBA01059870;AK092364;AK308173;AL109936;AL834485;AMYH02000490;BC056400;CH471134;M88359;NM_001077195;NM_030634 AAA61317;AAH56400;ABZ92065;BAB21801;BAC03871;CAD39143;EAW95043;EAW95044;EAW95045;NP_001070663;NP_085137;Q9C0F3 Hs.293798 1680607;1771160;1772477;2114861;2118560;2144624;5092870 A009B20;AL009338;D1S3597;G32382;RH80588;SHGC-74359;SHGC-74366 KIAA1710;ZNF;Zfp46 DNA-binding protein;OTTHUMP00000003264;OTTHUMP00000003265;OTTHUMP00000003266 protein-coding ENSG00000125945 HGNC:20814 15793 611703 VALIDATED 1603538 ZNF438 zinc finger protein 438 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity; INVOLVED IN negative regulation of transcription, DNA-templated; FOUND IN nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; cobalt dichloride; copper(2+) sulfate 10 10 10 p11.23 30898885 31086180 - 31133563 31320866 - 30844632 31031937 - 6480464 12477932;14702039;15164054;15489334;16344560;16385451;17669267;20379614;21833088;24250222;24390342 220929 Q5T427;Q7Z4V0;V9GYJ1 ABBA01033408;ABBA01033409;ABBA01033410;AF428258;AF440405;AI703004;AK057323;AK131357;AK292730;AK294253;AL359532;AL359546;AL591707;AL596113;AL833056;AMYH02022566;AMYH02022567;BC101622;BC104669;BC104757;BC143462;BC143464;CH471072;DA402463;DA479799;DA513699;DQ356011;DQ356012;NM_001143766;NM_001143767;NM_001143768;NM_001143769;NM_001143770;NM_001143771;NM_182755;NR_026560;XM_006717393;XM_006717394;XM_006717395;XM_006717396;XM_006717397;XM_006717398;XM_006717399 AAI01623;AAI04758;AAP97298;AAP97319;ABC86954;ABC86955;BAD18510;BAF85419;BAG51902;BAG57549;CAH56317;EAW85996;EAW85997;NP_001137238;NP_001137239;NP_001137240;NP_001137241;NP_001137242;NP_001137243;NP_877432;Q7Z4V0;XP_006717456;XP_006717457;XP_006717458;XP_006717459;XP_006717460;XP_006717461;XP_006717462 Hs.660642 1681917;1689805;1718469 RH122436;RH92077;RH98850 FLJ32761;MGC126671;RP11-330O11.1;bA330O11.1 OTTHUMP00000019401;OTTHUMP00000019402;OTTHUMP00000179084 protein-coding ENSG00000183621 HGNC:21029 11247 VALIDATED 1344221 ZNF439 zinc finger protein 439 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH hydralazine; quercetin; valproic acid 19 19 19 p13.2 11871218 11874680 + 11959541 11980306 + 11848726 11869491 + 1580863;6480464;8554872 12477932;14702039;15489334;16189514;22505724 90594 C9JMA7;Q8NDP4 ABBA01029822;AC008543;AC020951;AK027542;AL833935;AMYH02035539;BC032857;CH471106;NM_152262;XM_005260142;XM_005260144;XM_006722933 AAH32857;BAB55187;CAD38790;EAW84245;EAW84246;EAW84247;NP_689475;Q8NDP4;XP_005260199;XP_005260201;XP_006722996 Hs.528731 1645598;1650313;1662203 RH78963;SHGC-37302;STS-N29327 DKFZp571K0837 OTTHUMP00000210063;OTTHUMP00000210064 protein-coding ENSG00000171291 HGNC:20873 11717 PROVISIONAL 1344370 ZNF44 zinc finger protein 44 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; coumestrol; quercetin 19 19 19 p13.2 12276547 12299635 - 12358059 12405714 - 12271808 12294899 - 1580863;6480464 10737800;12477932;14667819;1505991;15146197;15231747;16344560;17081983;18029348;1946370;22505724;2288909 51710 E2QRP2;F8W7T7;M0R160;P15621 AA525756;AB021642;ABBA01029801;AC012618;AF024706;AK297528;AL137602;AMYH02035547;AW795413;BC001868;BC032246;BC136502;BE766488;BX640705;CH471106;CN364680;DA815414;M77173;M88365;M88367;NM_001164276;NM_016264;X16281;X52338;XM_005259934;XM_005259935;XM_006722768 AAA36816;AAA61323;AAA61325;AAB81096;AAI36503;BAA86988;BAG59931;CAA34357;CAA36564;CAE45825;EAW84266;EAW84267;NP_001157748;NP_057348;P15621;XP_005259991;XP_005259992;XP_006722831 Hs.296731;Hs.693933 1659664;2121451;2163282 RH79158;SHGC-74817;STS-X16281 DKFZp434F1811;DKFZp686L21136;GIOT-2;KOX7;ZNF;ZNF504;ZNF55;ZNF58 OTTHUMP00000209860;OTTHUMP00000209861;OTTHUMP00000209862;gonadotropin inducible transcription repressor-2;gonadotropin-inducible ovary transcription repressor 2;gonadotropin-inducible transcription repressor 2;zinc finger protein 44 (kox 7);zinc finger protein 55;zinc finger protein 58;zinc finger protein KOX7;zinc finger protein ZnFP12 protein-coding ENSG00000197857 HGNC:13110 01927 194542 VALIDATED 1347624 ZNF440 zinc finger protein 440 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cyclosporin A 19 19 19 p13.2 11819465 11840384 + 11925099 11946016 + 11814284 11835201 + 1580863;6480464 12477932;14702039;15489334;16169070;16189514;20211142;20379614;20936779;22505724 126070 C9J3D9;C9JG89;C9JV94;K7EJ55;Q8IYI8 ABBA01029823;AC008543;AK092559;AK095252;AMYH02035539;BC016371;BC035760;CH471106;NM_152357;XM_005259731;XM_006722641 AAH16371;AAH35760;ABZ92094;BAC04510;EAW84243;EAW84244;NP_689570;Q8IYI8;XP_005259788;XP_006722704 Hs.418192 1338823;1698680;1771496;1773302;2180949;5014051;5015619;5022578;5022651;5037552;5093312;5114613;5117897;5118444 A009L16;D11S2921;D11S3114;D11S3316;D19S906;D1S1423;D8S2278;D8S2279;G32644;GDB:631813;RH102900;RH36261;RH45667;RH78649 FLJ37933 OTTHUMP00000210058;OTTHUMP00000210059;OTTHUMP00000210060 protein-coding ENSG00000171295 HGNC:20874 11718 VALIDATED 1350882 ZNF441 zinc finger protein 441 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; hydralazine 19 19 19 p13.2 11772268 11789345 + 11877815 11894893 + 11767000 11784078 + 1580863;6480464;8554872 12477932;14702039;16344560;20379614;22505724 126068 Q8N8Z8 ABBA01029823;AC008543;AK092721;AK095956;AMYH02035539;BC144217;BX649086;CH471106;DB250168;NM_152355 BAC04661;EAW84240;NP_689568;Q8N8Z8 Hs.675132 2218680 ZNF441__4847 FLJ38637 OTTHUMP00000210057 protein-coding ENSG00000197044 HGNC:20875 15794 VALIDATED 1353255 ZNF442 zinc finger protein 442 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; aflatoxin B1 19 19 19 p13.2 12354010 12370301 - 12460185 12476475 - 12349371 12365820 - 1580863;6480464;8554872 14702039;16344560;22505724 79973 C9JC15;Q9H7R0 ABBA01029799;ABBA01029800;AC008758;AK024418;AK295923;AMYH02035547;CH471106;DA151257;NM_030824;XM_006722907;XM_006722908 BAB14916;BAG58710;EAW84270;NP_110451;Q9H7R0;XP_006722970;XP_006722971 Hs.253193 FLJ14356 OTTHUMP00000209849 protein-coding ENSG00000198342 HGNC:20877 15795 VALIDATED 1345334 ZNF443 zinc finger protein 443 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] 19 19 19 p13.2 12434353 12445750 - 12537710 12551926 - 12426896 12441112 - 1580863;6480464 12215374;12477932;14702039;15489334;16147992;16344560;22505724;9731181 10224 F8WDY2;Q9Y2A4 AB011414;ABBA01029798;AC008758;AK023025;AK025564;AK299532;AMYH02035548;BC032753;CH471106;DA778355;NM_005815;XM_005259705 AAH32753;ABZ92288;BAA75543;BAG51151;BAG61480;EAW84273;NP_005806;Q9Y2A4;XP_005259762 Hs.636894;Hs.720755 ZK1 Kruppel-type zinc finger (C2H2);OTTHUMP00000209832;OTTHUMP00000209833;krueppel-type zinc finger protein ZK1 APPROVED protein-coding ENSG00000180855 HGNC:20878 09460 606697 VALIDATED 1312520 ZNF444 zinc finger protein 444 This gene encodes a zinc finger protein which activates transcription of a scavenger receptor gene involved in the degradation of acetylated low density lipoprotein (Ac-LDL) (PMID: 11978792). This gene is located in a cluster of zinc finger genes on chromosome 19 at q13.4. A pseudogene of this gene is located on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 19 19 19 q13.43 53696812 53715972 + 56652320 56672262 + 56140951 56160893 + 6480464 11978792;12477932;14702039;15489334;19760602;23602568;8125298 55311 K7EJ91;K7EJH4;K7EK55;K7ELZ3;K7EMV5;K7ESL2;Q8N0Y2 AB052954;AB052955;ABBA01020839;ABBA01020840;ABBA01020841;AC024580;AF074985;AK001999;AK074063;AK097319;AK223408;AL834130;AMYH02036488;AMYH02036489;BC021282;BI823582;CH471135;NM_001253792;NM_018337;XM_005259034;XM_005259035;XM_005259036 AAH21282;BAA92028;BAB84889;BAC02697;BAC02698;BAD97128;CAD38847;EAW72424;EAW72425;EAW72426;EAW72427;EAW72428;EAW72429;EAW72430;NP_001240721;NP_060807;Q8N0Y2;XP_005259091;XP_005259092;XP_005259093 Hs.24545;Hs.741890 2145469;2158806;5037552;5126059 D8S2279;RH35857;STS-R08168;STS-R63307 EZF-2;EZF2;FLJ11137;ZSCAN17 endothelial zinc finger protein 2;zinc finger and SCAN domain-containing protein 17 APPROVED protein-coding ENSG00000167685 HGNC:16052 08488 607874 VALIDATED 5130797 ZNF444P1 zinc finger protein 444 pseudogene 1 15 15 15 36045149 36045815 + 59157205 59157871 + 58865006 58865672 + 100419866 ABBA01038977;AC090515;AMYH02030535;NG_025387 ZNF864P pseudo HGNC:35157 INFERRED 1346324 ZNF448 zinc finger protein 448 353277 HGNC:21038 1352896 ZNF37A zinc finger protein 37A ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; acetylsalicylic acid; arsenous acid 10 10 10 p11.2 38154521 38183653 + 38383264 38412280 + 38094336 38123352 + 1580863;6480464 12477932;12566394;14702039;15164054;15489334;2014798;2288909;23922231;8464732 7587 P17032 AA742606;ABBA01033286;ABBA01033287;AJ492195;AK092012;AK130521;AL117339;AL708537;AMYH02022661;AMYH02022662;BC015858;BX647089;CH471072;NM_001007094;NM_001178101;NM_003421;X52352;X69115;XM_005252581;XM_005252582;XM_005252583;XM_005252585;XM_005252586;XM_006717501 AAH15858;ACE86674;ACE87359;ADZ15438;BAG52465;CAA36578;CAA48868;CAD37331;EAW85884;EAW85885;EAW85886;EAW85887;NP_001007095;NP_001171572;NP_003412;P17032;XP_005252638;XP_005252639;XP_005252640;XP_005252642;XP_005252643;XP_006717564 Hs.292575 1644796;1661208;1671083;1687321;2109013;5111492;5124648 D13S1462;RH11329;RH66682;RH92928;STS-F02845;WI-16960;ZNF37A_8736 FLJ3472;KOX21;ZNF37 OTTHUMP00000019467;zinc finger protein 37a (KOX 21);zinc finger protein KOX21 protein-coding ENSG00000075407 HGNC:13102 18508 VALIDATED 1349162 ZNF445 zinc finger protein 445 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH fonofos; paracetamol; parathion 3 3 3 p21.32 44419283 44457181 - 44481262 44519162 - 44439770 44477670 - 1580863;6480464 12477932;15489334;16368201;20379614;21139048;22505724;24250222;7814019 353274 B7ZKX2;P59923 ABBA01024744;ABBA01024745;AC099669;AC134943;AK026891;AK310588;AL832553;AMYH02006646;AY262260;AY279350;AY295873;BC052953;BC101486;BC143439;BX108541;CH471055;L32162;NM_181489;XM_005265102;XM_005265103;XM_006713126 AAA36767;AAI01487;AAI43440;AAP36990;AAP50258;AAQ62847;EAW64708;NP_852466;P59923;XP_005265159;XP_005265160;XP_006713189 Hs.250481 1721495;2106751;2140931;5014051;5016478;5019070;5020740;5037552 D8S2278;D8S2279;G44334;G59601;GDB:434012;L17809;WI-14808;ZNF445__4849 MGC126535;ZKSCAN15;ZNF168;ZSCAN47 OTTHUMP00000164036;zinc finger protein 168;zinc finger protein with KRAB and SCAN domains 15 protein-coding ENSG00000185219 HGNC:21018 11719 VALIDATED 1606140 ZNF425 zinc finger protein 425 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH aflatoxin B1; benzo[a]pyrene 7 7 7 q36.1 143470255 143492616 - 148799853 148823438 - 149102784 149126346 - 6480464;8554872 12477932;12690205;14702039;21266108 155054 C9JNW7;Q6IV72 AACC02000041;ABBA01033618;ABBA01033619;ABBA01033620;ABBA01033621;AC073422;AK056498;AMYH02017038;AMYH02017039;AMYH02017040;AY621067;BC125189;CH471146;NM_001001661 AAI25190;AAT40438;BAG51733;EAL24427;EAW80061;NP_001001661;Q6IV72 Hs.31743 1697504;1703204 RH102254;SGC32501 MGC150568 OTTHUMP00000213766;OTTHUMP00000213767 protein-coding ENSG00000204947 HGNC:20690 11715 VALIDATED 1351503 ZNF446 zinc finger protein 446 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH pirinixic acid (ortholog) 19 19 19 q13.43 56031803 56036605 + 58985910 58992601 + 58475878 58489533 + 6480464;8554872 12477932;14702039;15936718;16189514;20211142;21988832;23251661;24722188 55663 M0R034;M0R202;Q9NWS9 ABBA01020766;AC012313;AK000633;AK026153;AK055359;AL122108;AL833955;AMYH02036536;AY279351;AY280800;BC017206;CH471135;NM_017908;XM_005259052;XM_005259053;XM_006723266 AAH17206;AAQ16304;AAQ62848;BAA91298;BAB15377;CAB59270;CAD38805;EAW72597;EAW72598;EAW72599;EAW72600;NP_060378;Q9NWS9;XP_005259109;XP_005259110;XP_006723329 Hs.710284 5014051;5037552 D8S2278;D8S2279 FLJ20626;ZKSCAN20;ZSCAN30;ZSCAN52 zinc finger protein with KRAB and SCAN domains 20 protein-coding ENSG00000083838 HGNC:21036 07934 PROVISIONAL 1605280 ZNF436-AS1 ZNF436 antisense RNA 1 INTERACTS WITH diazinon; trichostatin A; valproic acid 1 1 1 p36.12 22025118 22027986 + 23695464 23698332 + 23368971 23371839 + 6480464 12477932 148898 E5RFN3;E5RHY3;F2Z2N4;H0YBW9;Q8NC38 ABBA01059870;AK074989;AL109936;AMYH02000490;BC007899;BC028411;BC054115;BC068594;BQ072309;BX098506;CH471134;CQ782969;LN607855;NR_033690;NR_033691 AAH28411;AAH54115;AAH68594;BAC11338;CAF86197;EAW95046;Q8NC38 Hs.61884 1680607;5016741 RH76104;RH80588 C1orf213;FLJ90508 APPROVED ncrna ENSG00000249087 HGNC:25122 14083 VALIDATED 1348166 ZNF449 zinc finger protein 449 This gene encodes a nuclear protein that likely functions as a transcription factor. The protein includes an N-terminal SCAN domain, and seven C2H2-type zinc finger motifs. [provided by RefSeq, May 2010] X X X q26.3 134862712 134881354 + 134478696 134497338 + 135344771 135363413 + 6480464 12477932;14702039;15489334;15772651;15790807;16344560;16636917;22505724;24250222 203523 Q6P9G9;Q7Z3P1 ABBA01050058;AK002078;AK074194;AK314344;AL450472;AL832169;AL833109;AL833407;AMYH02040553;AY280801;AY927530;AY927531;BC060768;BC065938;BX537604;CH471107;DA319333;NG_021220;NM_152695;XM_005262395 AAH60768;AAH65938;AAQ16305;ABZ92212;ACE86670;ACE87354;BAB85013;BAG36986;CAD38639;CAD97794;EAX11728;NP_689908;Q6P9G9;XP_005262452 Hs.28780 1666947 RH36607 FLJ23614;ZSCAN19 OTTHUMP00000024072;zinc finger and SCAN domain-containing protein 19 APPROVED protein-coding ENSG00000173275 HGNC:21039 06543 300627 REVIEWED 1354120 ZNF45 zinc finger protein 45 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN gene expression (inferred); multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleoplasm (inferred); INTERACTS WITH (S)-colchicine; adenine; atrazine 19 19 19 q13.2 41220299 41242935 - 44416776 44439411 - 43912624 43935259 - 1580863;6480464 12477932;15057824;15489334;1559709;17082780;19195718;20562864;21890473;22505724;2288909;9067431;9570955 7596 K7EPV5;Q02386 ABBA01040872;AC006213;AC035150;AK127739;AMYH02036174;AMYH02036175;BC037575;CH471126;L75847;M67509;NM_003425;X52336 AAA36133;AAA36134;AAB05653;AAF63030;AAH37575;ABZ92440;BAC87108;CAA36562;EAW57235;EAW57236;NP_003416;Q02386 Hs.381285 KOX5;ZNF13 BRC1744;zinc finger protein 13;zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide);zinc finger protein KOX5 protein-coding ENSG00000124459 HGNC:13111 03469 194554 VALIDATED 1346228 ZNF454 zinc finger protein 454 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 8-bromo-3',5'-cyclic AMP; arsenite(3-); diazinon 5 5 5 q35.3 173995675 174020218 + 178368194 178393218 + 178941193 178966217 + 1580863;6480464;8554872 12477932;14702039;15489334;16344560;22505724;22939629 285676 Q8N9F8 ABBA01010009;ABBA01010010;AC104117;AK094763;AK292317;AMYH02012867;BC105061;BC112276;CH471165;DA331325;DB167127;NM_001178089;NM_001178090;NM_182594;XM_006714855 AAI05062;AAI12277;ABZ92160;BAC04418;BAF85006;EAW53822;EAW53823;EAW53824;NP_001171560;NP_001171561;NP_872400;Q8N9F8;XP_006714918 Hs.259441 2106753;2122111 STS-N31572;ZNF454__4850 FLJ37444;MGC138481 OTTHUMP00000161491;OTTHUMP00000224389 protein-coding ENSG00000178187 HGNC:21200 15796 VALIDATED 1606316 ZNF460 zinc finger protein 460 Zinc finger proteins, such as ZNF272, interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, May 2004] 19 19 19 q13.4 54835142 54848725 + 57790776 57805436 + 57279408 57294068 + 6480464 12477932;14702039;15004467;15489334;16344560;20360068;20562864;21549307;21890473;22505724;23602568;7865130 10794 M0R0J6;Q14592 ABBA01020812;AC005261;AK074582;AK090816;AK292144;AK298106;AMYH02036511;AY329492;BC109018;BC109019;BC118625;DA991801;NM_006635;X78931;XM_005258422;XM_006722976 AAI09019;AAI09020;AAI18626;AAR00225;BAF84833;BAG60391;CAA55531;NP_006626;Q14592;XP_005258479;XP_006723039 Hs.99971 2149130;2220040 D19S828;ZNF272__4801 HZF8;ZNF272 zinc finger protein 272;zinc finger protein HZF8 APPROVED protein-coding ENSG00000197714 HGNC:21628 06885 604755 VALIDATED 1315468 ZNF385A zinc finger protein 385A Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008] 12 12 12 q13.13 54414766 54436926 - 54762913 54785083 - 54369129 54391299 - 1580863;6480464;8662965 20679336 10585558;11927637;12477932;14702039;15489334;15527981;16344560;17719541;21697133;23443559 25946 F8VQ24;F8VRY0;F8VSJ1;F8VWV6;F8VY43;H0YI55;H0YIX3;Q96PM9 AB593085;ABBA01008371;ABBA01008372;AC078778;AC079313;AF304052;AK024404;AK092724;AK296564;AK315613;AL117462;AMYH02026535;AY461717;BC029752;BM476090;BM546460;BP305142;CH471054;CR457327;DB116264;DB169664;NM_001130967;NM_001130968;NM_001290001;NM_001290002;NM_001290004;NM_015481;XM_005268783;XM_005268784;XM_005268785;XM_006719341;XM_006719342 AAH29752;AAL08625;AAS19275;BAB14910;BAG37982;BAG59184;BAJ84025;CAB55938;CAG33608;EAW96777;EAW96778;EAW96779;NP_001124439;NP_001124440;NP_001276930;NP_001276931;NP_001276933;NP_056296;Q96PM9;XP_005268840;XP_005268841;XP_005268842;XP_006719404;XP_006719405 Hs.505653 1769491;2191339 MARC_17697-17698:1031753921:1;RH158 DKFZp586G1122;HZF;RZF;ZFP385;ZNF385 OTTHUMP00000242247;OTTHUMP00000242248;OTTHUMP00000242249;OTTHUMP00000242251;OTTHUMP00000242252;OTTHUMP00000242253;hematopoietic zinc finger protein;retinal zinc finger protein;zinc finger protein 385 APPROVED protein-coding ENSG00000161642 HGNC:17521 16448 609124 VALIDATED 1352850 ZNF462 zinc finger protein 462 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN chromatin organization (inferred); negative regulation of DNA binding (inferred); positive regulation of transcription from RNA polymerase II promoter (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; calcitriol 9 9 9 q31.2 80129626 80278036 + 109622469 109775525 + 106860159 107013253 + 1580863;6480464;8554872 11347906;12168954;12477932;14702039;15489334;17000644;18391951;18978678;19266077;19448620;19505873;19913121;20080650;20546612;20562864;20628086;20881960;22826440;23667531;24025145 58499 H0Y6H9;H3BLX4;Q63HJ5;Q96JM2;U3KQU3 AB058706;ABBA01042801;AK027866;AK127803;AK302007;AL359561;AL512593;AL590362;AMYH02021412;AMYH02021413;BC036884;BX648965;CH471105;CR749850;KF458934;NM_021224;XM_006717209;XM_006717210;XM_006717211;XM_006717212;XM_006717213;XM_006717214;XM_006717215;XM_006717216;XM_006717217;XM_006717218 AAH36884;AAI72445;BAB47432;BAC87142;BAG63410;CAB94868;CAH18698;CAH56168;EAW59010;EAW59011;EAW59012;NP_067047;Q96JM2;XP_006717272;XP_006717273;XP_006717274;XP_006717275;XP_006717276;XP_006717277;XP_006717278;XP_006717279;XP_006717280;XP_006717281 Hs.370379 1336033;1730393;2151483;2218682 D9S1832;D9S187E;UniSTS:47729;ZNF462__4851 DKFZp686B2325;DKFZp762N2316;FLJ14960;FLJ45904;KIAA1803;RP11-508N12.1;Zfp462 OTTHUMP00000021854;OTTHUMP00000021855;OTTHUMP00000215909 protein-coding ENSG00000148143 HGNC:21684 10333 VALIDATED 1605315 ZNF468 zinc finger protein 468 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (S)-nicotine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 19 19 19 q13.41 50391063 50410182 - 53341785 53360902 - 52838532 52857649 - 6480464;8554872 12477932;14702039;16144304;16344560;21890473;21906983;21988832;22505724;23000965 90333 M0QYC0;M0QYE7;M0QZR5;M0R171;Q5VIY5 ABBA01068233;AC008813;AK023558;AK025501;AK289841;AK292449;AMYH02036410;AMYH02036411;AY442330;AY442331;BC008480;BC037409;BC063143;BX501408;CH471135;CR749381;CR936599;CR936695;DA245284;DB234532;NM_001008801;NM_001277120;NR_102299;NR_102300;NR_102301;XM_006723459;XM_006723460 AAH63143;AAI48555;AAS01603;AAS01604;BAF82530;BAF85138;CAH18233;CAI56747;EAW72099;EAW72100;NP_001008801;NP_001264049;Q5VIY5;XP_006723522;XP_006723523 Hs.467223 2142676;2142678 A005Y18;G20593 DKFZp781B1474;DKFZp781N07108 zinc finger protein ZNF468 protein-coding ENSG00000204604 HGNC:33105 18344 VALIDATED 1316175 ZNF469 zinc finger protein 469 This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008] 16 16 16 q24 73564290 73577602 + 88493879 88507165 + 88427471 88440757 + 1580863;6480464;7240710;8554872;8699517 11347906;17081983;18452888;19661234;20485516;20719862;20938016;21664999;22486320;22814818;23010198;23291589;23680354;24144296 84627 H3BS19;Q96JG9 AB058761;ABBA01015833;AC135049;AMYH02032631;KF456226;NG_012236;NM_001127464 BAB47487;NP_001120936;Q96JG9 Hs.54925 2185818 SHGC-56971 BCS;BCS1;KIAA1858 APPROVED protein-coding ENSG00000225614 HGNC:23216 229200;612078 REVIEWED 1601731 ZNF461 zinc finger protein 461 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 3,3',5-triiodo-L-thyronine; copper(2+) sulfate; mono(2-ethylhexyl) phthalate 19 19 19 q13.12 33912883 33942323 - 37128283 37157740 - 36637381 36666838 - 6480464 11579202;12477932;14764631;15004467;15489334;16595694;24250222 92283 B4DRP8;K7EIW1;K7EJM1;K7EKL0;K7ESQ5;Q8TAF7;X6RBI5 AB021641;AB209279;ABBA01016200;AC074138;AK292834;AK299370;AMYH02036019;AY329493;BC028631;BX649031;DC328991;NM_001297623;NM_153257;XM_005259402;XM_005259403 AAH28631;AAR00226;ABM82111;ABM85293;BAA86987;BAD92516;BAF85523;BAG61360;NP_001284552;NP_694989;Q8TAF7;XP_005259459;XP_005259460 Hs.590972 1693522 SHGC-58581 GIOT-1;GIOT1;MGC33911 gonadotropin inducible transcription repressor 1;gonadotropin-inducible ovary transcription repressor 1 protein-coding ENSG00000197808 HGNC:21629 16358 608640 VALIDATED 1343636 ZNF472 zinc finger protein 472 1299608 12748187 386619 HGNC:23232 1603830 ZNF470 zinc finger protein 470 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus; INTERACTS WITH atrazine; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.43 54121878 54137251 + 57078401 57099965 + 56567482 56588902 + 6480464 12477932;14702039;15057824;15302581;16344560;18029348;23251661 388566 M0R0Q6;M0R2Y9;Q6ECI4 AA977233;ABBA01020832;AC007228;AK129686;AK130356;AMYH02036495;AMYH02036496;AY484591;BC136762;BC142627;BC150188;BX641145;CH471135;DA412738;KF511283;NM_001001668;XM_005258910;XM_005258911;XM_006723210 AAD23607;AAI36763;AAS64219;BAC85218;EAW72466;NP_001001668;Q6ECI4;XP_005258967;XP_005258968;XP_006723273 Hs.204449 1789158;2165564;5022200;5022576 D1S1361;G65720;L18426;STS-AA001125 CZF-1;FLJ26175;FLJ26846 chondrogenesis zinc finger protein 1 protein-coding ENSG00000197016 HGNC:22220 13398 VALIDATED 1350704 ZNF471 zinc finger protein 471 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH all-trans-retinoic acid; arsenite(3-); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.43 54062199 54083259 + 57019212 57041581 + 56507843 56530212 + 737633;1580863;6480464;8554872 12477932 10718198;11076863;11230166;11256614;15057824;15489334;15489336;16189514;16381901;22505724;24250222 57573 K7EPX1;Q9BX82 AB037817;ABBA01020833;AC004696;AC005498;AF352026;AK291416;AK293908;AL831845;AMYH02036494;BC016830;BC028227;BC125221;BC125222;CH471135;NM_020813;XM_005259096 AAC32422;AAI25222;AAI25223;AAK30252;BAA92634;BAF84105;BAG57293;CAD38551;CAL38280;EAW72459;EAW72460;EAW72461;NP_065864;Q9BX82;XP_005259153 Hs.710590 1340463;1721283;7188009 D19S210;G59638 ERP1;KIAA1396;MGC150657;MGC150658;Z1971 EZFIT-related protein 1 protein-coding ENSG00000196263 HGNC:23226 15797 VALIDATED 1314152 ZNF451 zinc finger protein 451 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; benzo[a]pyrene diol epoxide I; ethyl methanesulfonate 6 6 6 p12.1 58617929 58698197 + 56954808 57035103 + 57090010 57170305 + 1580863;6480464;8554872 11181995;11214970;12477932;14574404;14702039;15146197;15231748;15489334;16189514;17043677;18656483;19394292;19471022;20211142;20360068;20936779;21139048;21252943;21693764;21890473;21906983;21963094;21987572;21988832;22505724;23000965;23275563;23455924;23718855;24324267;24816145;25027693;7566098;8125298;8889548;9628581 26036 B4DYS2;D6RAS1;D6RAV4;D6RB93;D6REC5;D6RIA1;E9PH99;Q5VVE8;Q5VVF0;Q96JY2;Q9Y4E5 AA336048;AB011148;AB051489;ABBA01050484;ABBA01050485;AK000983;AK027074;AK027805;AK075174;AK096186;AK225806;AK302577;AL136311;AL450489;AMYH02013783;AY055204;BC021712;BC042450;BC058853;BC098382;BM559241;BX648081;CH471081;CK301064;CN314846;NM_001031623;NM_001257273;NM_015555;XM_005248994;XR_241885 AAH21712;AAH42450;AAH58853;AAH98382;AAL17975;ACE86936;ACE87624;BAA25502;BAB21793;BAB55382;BAG63834;EAX04471;EAX04472;EAX04473;NP_001026794;NP_001244202;NP_056370;Q9Y4E5;XP_005249051 Hs.485628;Hs.705485 1665947;1679137;1693630;1786070;2117855;2170743;5014051;5015404;5015619;5021228;5022578;5037552 A006S36;D11S3114;D1S1423;D8S2278;D8S2279;GDB:312794;L17705;RH66223;RH78440;RH92062;SHGC-155757;SHGC-58545 FLJ23421;FLJ53246;FLJ90693;KIAA0576;KIAA1702;MGC26701;dJ417I1.1 COASTER;OTTHUMP00000016663;OTTHUMP00000218131;OTTHUMP00000218171;coactivator for steroid receptors protein-coding ENSG00000112200 HGNC:21091 10332 615708 VALIDATED 1352232 ZNF473 zinc finger protein 473 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN histone mRNA 3'-end processing; FOUND IN Cajal body; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; 5-fluorouracil 19 19 19 q13.33 47398472 47421294 + 50528786 50552033 + 50025955 50048776 + 6480464 10574461;11782445;12477932;12975319;14702039;15489334;16189514;16714279;16914750;20379614;21906983;24250222 25888 F8WEC7;M0QZY7;M0R032;M0R123;M0R2N2;Q8WTR7 AB032967;ABBA01032904;ABBA01032905;AC010624;AC011452;AF454744;AK054671;AK292452;AK302293;AL080143;AMYH02036335;BC018612;BX492803;BX648093;CH471177;NM_001006656;NM_015428 AAH18612;AAL51029;ABZ92317;ADZ15540;BAA86455;BAF85141;BAG63633;CAB45736;CAH56173;EAW52593;EAW52594;NP_001006657;NP_056243;Q8WTR7 Hs.440553 1338109;1679772;1734614;1857492;2107783;2176932 D19S620E;D19S867;RH94122;SGC33829;STS-T97152;ZNF473__4853 HZFP100;ZN473 zfp-100;zinc finger protein 100 homolog;zinc finger protein ZFP100 protein-coding ENSG00000142528 HGNC:23239 11721 VALIDATED 1606968 ZNF474 zinc finger protein 474 ENCODES a protein that exhibits metal ion binding (inferred); INTERACTS WITH pirinixic acid (ortholog); titanium dioxide (ortholog) 5 5 5 q23.2 117419660 117443684 + 121465215 121489266 + 122129520 122153571 + 6480464 12477932;14702039;15489334;20972266 133923 D6RCA7;D6RFM9;Q6S9Z5 ABBA01068958;AC010255;AK057483;AK290985;AMYH02012089;AMYH02012090;AY461732;BC133022;BC133026;CH471086;NM_207317 AAI33023;AAI33027;AAS21253;BAB71507;BAF83674;EAW48892;EAW48893;EAW48894;EAW48895;EAW48896;NP_997200;Q6S9Z5 Hs.729673 FLJ32921;TSZFP 4933409D10Rik;OTTHUMP00000159157;OTTHUMP00000222997;OTTHUMP00000222998;testis-specific zinc finger protein protein-coding ENSG00000164185 HGNC:23245 13411 PROVISIONAL 1350118 ZNF467 zinc finger protein 467 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; afimoxifene; atrazine 7 7 7 q36.1 144130665 144139508 - 149461452 149470295 - 149764182 149776349 - 1580863;6480464 12426389;12477932;15489334;17848547;21123171;22700861 168544 C9JAX3;Q7Z7K2 ABBA01033637;ABBA01033638;AC004877;AMYH02017052;AMYH02017053;BC029296;BC038972;BC052625;CH471146;NM_207336;XM_005249959;XM_005249960;XM_005249961;XM_006715864;XM_006715865;XM_006715866 AAH52625;EAW80032;EAW80033;EAW80034;NP_997219;Q7Z7K2;XP_005250016;XP_005250017;XP_005250018;XP_006715927;XP_006715928;XP_006715929 Hs.726477 1776845 RH78842 EZI;Zfp467 OTTHUMP00000212541;OTTHUMP00000212542;zinc finger protein EZI protein-coding ENSG00000181444 HGNC:23154 18343 614040 PROVISIONAL 1345407 ZNF398 zinc finger protein 398 This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 143492686 143549312 + 148823508 148880134 + 149126416 149183042 + 1580863;6480464 10718198;11779858;12477932;12690205;12853948;15489334;24722188 57541 B4DXA9;Q8TD17 AACC02000041;AB037760;ABBA01033621;ABBA01033622;ABBA01033623;ABBA01033624;AC004890;AC073422;AK026380;AK290499;AK301890;AK304369;AK304603;AMYH02017040;AMYH02017041;AMYH02017042;AY049742;AY049743;AY049744;BC043295;BE670664;CH471146;CQ834816;NM_020781;NM_170686 AAH43295;AAK92788;AAK92789;BAA92577;BAF83188;BAG63321;BAG65208;BAG65389;CAH05623;EAL24428;EAL24429;EAW80057;EAW80058;EAW80059;EAW80060;NP_065832;NP_733787;Q8TD17 Hs.632032 1652561;1675439;1686468;1847149;1850049;2129382 A008W17;D7S2870;RH69824;RH75512;RH92590;WI-20304 KIAA1339;P51;P71;ZER6 OTTHUMP00000213762;OTTHUMP00000213763;OTTHUMP00000213764;OTTHUMP00000213765;zinc finger DNA binding protein ZER6;zinc finger DNA binding protein p52/p71;zinc finger DNA-binding protein p52/p71;zinc finger-estrogen receptor interaction, clone 6 APPROVED protein-coding ENSG00000197024 HGNC:18373 18336 REVIEWED 1350030 ZNF48 zinc finger protein 48 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred) p11 1505991;1946370 7599 E9PJ50;E9PQ92;F8W7I7 M88358 AAA61316 1697832;2110825;2121504 G21158;RH102441;ZNF553__4878 protein-coding HGNC:13114 1343499 ZNF48 zinc finger protein 48 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p11.2 29887657 29891318 - 30389633 30411429 + 30378312 30400108 + 1580863;6480464;8554872 12477932;14702039;1505991;15489334;16344560;1946370 197407 Q96MX3 ABBA01042021;ABBA01042022;ABBA01042023;AC116348;AC127457;AC243825;AK056313;AK122598;AL832433;BC007393;BC041388;BU854776;CA434624;CF594347;CH471192;DA117281;DA492655;DA508718;DA556543;FB750026;M88358;NM_001214906;NM_001214907;NM_001214909;NM_152652 AAA61316;AAH07393;AAH41388;ABZ92119;BAB71146;CAH10657;CAT02183;EAW52250;EAW52251;NP_001201835;NP_001201836;NP_001201838;NP_689865;Q96MX3 Hs.513501;Hs.690989 DKFZp762K013;FLJ31751;MGC43952 APPROVED protein-coding ENSG00000180035 HGNC:13114 15836 VALIDATED 1348732 ZNF480 zinc finger protein 480 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; clorgyline 19 19 19 q13.41 49849987 49878731 + 52800426 52829180 + 52297169 52325927 + 737633;1580863;6480464 12477932 14702039;15219843;15489334;18029348;18854154;20379614;22505724;23425335;23455924 147657 C9IZQ0;F8WEZ9;M0R367;Q7Z2X8;Q8WV37 ABBA01068257;ABBA01068258;AC010320;AK096442;AK096559;AK303271;AL832560;AMYH02036399;AY512662;BC007056;BC018783;BC054018;BC065503;CH471135;DA501214;NM_001297624;NM_001297625;NM_144684;XM_005258525;XM_006723018 AAH07056;AAH18783;AAH54018;AAH65503;AAR97581;ABM82675;ABW03458;BAC04792;BAC04817;BAH13927;CAI46140;EAW72071;NP_001284553;NP_001284554;NP_653285;Q8WV37;XP_005258582;XP_006723081 Hs.729317 MGC32104 OTTHUMP00000212229 protein-coding ENSG00000198464 HGNC:23305 15799 613910 VALIDATED 1353288 ZNF479 zinc finger protein 479 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 p11.2 55907895 55927337 - 57187321 57207571 - 57119614 57139864 - 1580863;6480464;8554872 11410164;22505724 90827 Q96JC4 AC099654;AC122133;AC125231;AF277624;AMYH02015776;CH471214;NM_033273;XM_005271791 AAI67802;AAK61307;EAW71754;NP_150376;Q96JC4;XP_005271848 Hs.616660 5095530 RH121583 HKr19;KR19 KRAB zinc finger protein KR19;OTTHUMP00000210410;zinc finger protein Kr19 protein-coding ENSG00000185177 HGNC:23258 PROVISIONAL 1349192 ZNF485 zinc finger protein 485 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; copper(2+) sulfate 10 10 10 q11.21 40105491 40116988 + 44101855 44113352 + 43606407 43617904 + 1580863;6480464;8554872 12477932;14702039;15164054;15489334;16385451;21890473;22505724;23000965 220992 C9JV60;Q8NCK3 ABBA01050012;AK074679;AK299707;AK313328;AL645634;AMYH02022716;BC014161;BX648149;CH471160;CQ783574;NM_145312;XM_006717706 AAH14161;BAC11133;BAG36133;BAG61608;CAF86742;EAW86605;EAW86606;NP_660355;Q8NCK3;XP_006717769 Hs.147440 1717807 RH121814 OTTHUMP00000019486;OTTHUMP00000019487;OTTHUMP00000211177;Zinc finger protein 93 (Zinc finger protein HTF34) protein-coding ENSG00000198298 HGNC:23440 15800 VALIDATED 1350077 ZNF484 zinc finger protein 484 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 9 9 9 q22.31 66050432 66082102 - 95607313 95640320 - 92845031 92878044 - 6480464 12477932;14702039;15164053;15231748;15489334;16344560;22505724;22589738;24250222 83744 Q5JVG2 ABBA01018596;AK000772;AK091203;AK292997;AK299274;AK309617;AL136981;AL833202;AMYH02021227;BC112394;BC112396;CH471089;DB281280;DC310695;DC418802;NM_001007101;NM_001261458;NM_001261459;NM_001261460;NM_031486;XM_005252253;XM_006717299 AAI12395;AAI12397;BAF85686;BAG52305;BAG61294;EAW62836;EAW62837;NP_001007102;NP_001248387;NP_001248388;NP_001248389;NP_113674;Q5JVG2;XP_005252310;XP_006717362 Hs.668378 BA526D8.4;MGC133033;MGC133034 KRAB box containing C2H2 type zinc finger bA526D8.4;OTTHUMP00000021664;OTTHUMP00000021665 protein-coding ENSG00000127081 HGNC:23385 18346 VALIDATED 1604223 ZNF483 zinc finger protein 483 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); benzo[a]pyrene; hydroquinone O-beta-D-glucopyranoside 9 9 9 q31.3 84786545 84839198 + 114287439 114340124 + 111525159 111577844 + 6480464;8554872 11853319;12477932;14702039;20379614;20562864;20682791;21102462;21832049;22505724;23449627;23599027;24250222 158399 A7MD06;Q5VZN3;Q6P088;Q8TF39 AB075842;ABBA01042729;ABBA01042730;ABBA01042731;AK092811;AK291267;AL135787;AL159168;AMYH02021478;BC020893;BC065738;BC136695;BC136696;BC152427;BC152433;CH471105;NM_001007169;NM_133464 AAH65738;AAI36696;AAI36697;AAI52428;AAI52434;BAB85548;BAC03981;BAF83956;EAW59073;NP_001007170;NP_597721;Q8TF39 Hs.660784 1669167;1693750;2110817;2120614;2131440;5015881;5022200;5022450;5037552 A008V29;D10S275;D8S2279;GDB:335751;L18426;RH16615;SHGC-33630;SHGC-58823;ZNF483__4855 ZKSCAN16;ZSCAN48 OTTHUMP00000021910;OTTHUMP00000021911;zinc finger protein HIT-10;zinc finger protein with KRAB and SCAN domains 16 protein-coding ENSG00000173258 HGNC:23384 18345 VALIDATED 1352943 ZNF49 zinc finger protein 49 1505991 7600 HGNC:13115 1346130 ZNF486 zinc finger protein 486 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH 17beta-estradiol; 8-bromo-3',5'-cyclic AMP; arsenite(3-) 19 19 19 p12 20184216 20215116 + 20278020 20311299 + 20167214 20200490 + 1580863;6480464 12477932;15489334;19056867;22505724 90649 M0QXQ0;Q4G180;Q96H40 AB209550;ABBA01051350;ABBA01051351;AC011447;AMYH02035775;BC008936;BC027608;BC117268;CH471106;NM_052852 AAH08936;AAH27608;AAI17269;BAD92787;EAW84874;NP_443084;Q96H40 Hs.590991 1714003;2220430;5016700;5020948;5037552;5493381;7186918 D8S2279;ERV3;G35510;RH119432;RH79802;UniSTS:481985;UniSTS:485891 KRBO2;MGC2396 KRAB box only protein 2;KRAB domain only 2;KRAB domain only protein 2 protein-coding ENSG00000256229 HGNC:20807 VALIDATED 1605144 ZNF487 zinc finger protein 487 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); acetazolamide (ortholog) 10 10 10 q11.21 39936175 39981605 + 43932574 43978007 + 43437126 43482559 + 6480464 642819 B1APH4;B2REC8;H0Y2R6 ABBA01050004;ABBA01050005;ABBA01050006;ABBA01050007;ABBA01050008;AK302442;AL450326;AMYH02022713;NR_026693 B1APH4;BAH13711 Hs.719657 1657467;1707148;2111292;2111300 D10S1177;D10S1183;SHGC-81343;STS-Z40895 KRBO1;ZNF487P APPROVED pseudo HGNC:23488 PROVISIONAL 1320391 ZNF488 zinc finger protein 488 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN negative regulation of transcription, DNA-templated (inferred); positive regulation of oligodendrocyte differentiation (inferred); INTERACTS WITH aflatoxin B1; bisphenol A; calcitriol 10 10 10 q11.22 44779013 44797770 + 48355029 48373866 + 47365496 47384273 - 1580863;6480464 12477932;14702039;15164054;15489334;16385451;16713569;17207965 118738 Q96MN9 ABBA01000027;AK055018;AK056666;AK091097;AL731561;AMYH02022898;BC026895;BC051323;CH471251;NM_153034;XM_005270313;XM_006717617 AAH26895;AAH51323;ADQ32096;BAB71246;EAW50658;NP_694579;Q96MN9;XP_005270370;XP_006717680 Hs.27788 1675481;1685441;1741883 GDB:186446;RH25780;RH78167 FLJ32104 OTTHUMP00000195589;OTTHUMP00000195590;OTTHUMP00000195591;OTTHUMP00000195592;OTTHUMP00000195593;OTTHUMP00000195594;OTTHUMP00000195595 protein-coding ENSG00000265763 HGNC:23535 15801 PROVISIONAL 1349638 ZNF491 zinc finger protein 491 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH fonofos; parathion; terbufos 19 19 19 p13.2 11803836 11813754 + 11909391 11919470 + 11798576 11809504 + 1580863;6480464;8554872 12477932;14702039;15489334;16344560;22505724;8889549 126069 C9IYV0;Q8N8L2 AA083980;ABBA01029823;AC008543;AK092110;AK096593;AK297479;AMYH02035539;BC101590;BC101592;CH471106;DA776617;NM_152356;XM_005259730;XM_006722640 AAI01591;AAI01593;BAC03809;BAC04824;BAG59900;EAW84242;NP_689569;Q8N8L2;XP_005259787;XP_006722703 Hs.631634 5022588;5492507;5492865 D5S1597E;UniSTS:481373;UniSTS:483082 FLJ34791;MGC126639;MGC126641 OTTHUMP00000210068;OTTHUMP00000210069 protein-coding ENSG00000177599 HGNC:23706 15803 VALIDATED 1346780 ZNF490 zinc finger protein 490 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate 19 19 19 p13.2 12580709 12611347 - 12686920 12721623 - 12576106 12610809 - 1580863;6480464 10574462;12477932;15489334;17043677;20211142;21254220;22505724 57474 C9JID3;F8WDW6;Q9ULM2 AB033024;ABBA01029788;ABBA01029789;ABBA01029790;AC010422;AMYH02035550;BC038586;CH471106;NM_020714 AAH38586;ABZ92362;BAA86512;EAW84277;NP_065765;Q9ULM2 Hs.655860 1299977;1858169;5014051;5015619;5016478;5022322;5022463;5022651;5024761;5037552;7186418;7186420 D11S2560;D11S2921;D11S3114;D19S221;D3S1673;D8S2278;D8S2279;GDB:434012;RH36905;WI-11288 KIAA1198 OTTHUMP00000209826 protein-coding HGNC:23705 15802 VALIDATED 1343501 ZNF497 zinc finger protein 497 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 3,3',5-triiodo-L-thyronine; amiodarone; hydroquinone O-beta-D-glucopyranoside 19 19 19 q13.43 55909719 55918113 - 58865723 58874214 - 58354357 58362848 - 6480464 12477932;14702039;15489334;16344560;24250222 162968 M0R159;Q6ZNH5 ABBA01020773;AC012313;AF064790;AF085829;AK126727;AK131209;AMYH02036533;BC118983;BC125273;CA438336;CH471135;DA358776;DA705377;NM_001207009;NM_198458 AAF16412;AAI18984;AAI25274;BAC86660;BAD18400;EAW72577;EAW72578;NP_001193938;NP_940860;Q6ZNH5 Hs.447840 1721049;1730311;1771488;2158079 D19S238E;G59506;RH65092;WI-16009 FLJ42722;FLJ44773 zinc finger-like protein protein-coding ENSG00000174586 HGNC:23714 15806 VALIDATED 1312150 ZNF496 zinc finger protein 496 ENCODES a protein that exhibits DNA binding (ortholog); INVOLVED IN positive regulation of transcription, DNA-templated (ortholog); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (ortholog); INTERACTS WITH 5-aza-2'-deoxycytidine; arsenite(3-); bisphenol A 1 1 1 q44 220759980 220791668 - 247460717 247495294 - 247297415 247331977 - 737633;1580863;6480464;8554872 12477932 14702039;15169884;15489334;16189514;19394292;20176155;20211142;21906983;21963094;21972110;25027693 84838 Q96IT1 ABBA01031787;AC104335;AK024643;AK097397;AK098030;AK310669;AL133592;AMYH02003132;BC007263;BC025794;CH471148;NM_032752;XM_005273328;XM_005273330;XM_005273331;XM_005273332;XM_005273333;XM_006711838 AAH07263;AAH25794;ABM84432;ABM87490;EAW77178;EAW77179;EAW77180;EAW77181;EAW77182;NP_116141;Q96IT1;XP_005273385;XP_005273387;XP_005273388;XP_005273389;XP_005273390;XP_006711901 Hs.654803 1652855;1697862;2158517;2168727 AL009432;AL009511;RH102458;SHGC-76647 MGC15548;NIZP1;ZFP496;ZKSCAN17;ZSCAN49 NSD1 (nuclear receptor binding SET-domain containing 1)-interacting zinc finger protein 1;OTTHUMP00000038613;zinc finger protein with KRAB and SCAN domains 17 protein-coding ENSG00000162714 HGNC:23713 15805 613911 PROVISIONAL 1314930 ZNF500 zinc finger protein 500 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsane; arsenic atom; elemental selenium 16 16 16 p13.3 5009595 5025937 - 4800815 4817219 - 4750814 4767165 - 1580863;6480464;8554872 12477932;15146197;15489334;8619474;8889549;9110174;9628581 26048 K7EIH1;K7EJ94;K7EM64;K7EPZ1;K7ERS9;O60304;Q0VAL1 AA236649;AB011129;ABBA01026784;AC020663;AF007129;AK291792;AK297993;AMYH02031328;BC004125;BC014054;BC033151;BC121013;BC121014;CH471112;CN314802;NM_021646;XM_005255243;XM_005255244 AAH04125;AAI21014;AAI21015;BAA25483;BAF84481;BAG60301;EAW85266;NP_067678;O60304;XP_005255300;XP_005255301 Hs.513316 1677330;1856082;2116915;2218684;5016596;5019779;5022578 A009S41;D1S1423;G32825;GDB:631802;RH64985;SHGC-32342;ZNF500__4861 ZKSCAN18;ZSCAN50 zinc finger protein with KRAB and SCAN domains 18 protein-coding HGNC:23716 18347 VALIDATED 1343425 ZNF502 zinc finger protein 502 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 3 3 3 p21.31 44692121 44703310 + 44754135 44765323 + 44712643 44723831 + 1580863;6480464;8554872 12477932;14702039;15489334;16344560;20211142;22505724 91392 C9JLT3;Q8TBZ5;Q96K08 ABBA01024737;AC098649;AC124045;AK022577;AK027761;AMYH02006651;BC028377;CH471055;DA511196;DA823790;DA935088;DB264545;NM_001134440;NM_001134441;NM_001134442;NM_001282880;NM_033210;XM_006713383 AAH28377;ABZ92081;ADZ15503;BAB55352;EAW64718;EAW64719;NP_001127912;NP_001127913;NP_001127914;NP_001269809;NP_149987;Q8TBZ5;XP_006713446 Hs.224843 1697750;1743103 GDB:252106;RH102398 FLJ12515;FLJ14855 OTTHUMP00000164116;OTTHUMP00000209711;OTTHUMP00000209712 protein-coding ENSG00000196653 HGNC:23718 15810 VALIDATED 1353469 ZNF501 zinc finger protein 501 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH trichostatin A; aflatoxin B1 (ortholog); choline (ortholog) 3 3 3 p21.31 44709111 44716562 + 44771098 44778575 + 44729606 44737083 + 737633;1580863;6480464;8554872 12477932 14702039;1505991;15342556;15489334;16344560;1946370;22505724 115560 Q96CX3 ABBA01024737;AC098649;AK054613;AK297216;AK316574;AMYH02006651;BC013762;BP368765;CH471055;DB086337;M88361;NM_001258280;NM_145044 AAA61319;AAH13762;BAB70773;BAG38163;BAG59699;EAW64720;EAW64721;NP_001245209;NP_659481;Q96CX3 Hs.401045 1660843;1667418;1727979 G31037;G63409;WI-18287 MGC21738;ZNF;ZNF52 OTTHUMP00000164043;zinc finger protein 52 protein-coding ENSG00000186446 HGNC:23717 15809 VALIDATED 1345140 ZNF503-AS2 ZNF503 antisense RNA 2 INTERACTS WITH paracetamol; valproic acid 10 10 10 q22.2 70450920 70458374 + 77161286 77168740 + 75401528 75408982 + 6480464 12477932;14702039;15164054;15489334;16344560 100131213 A6NEH8;Q9H7I8 ABBA01020253;AC010997;AK024492;AMYH02023366;AW449476;BC017426;BC029963;BE392199;BI522594;BJ990170;DA634630;NR_024421;NR_024422;NR_110299;NR_110300;NR_110301;NR_110302 A6NEH8;BAB15782 Hs.534598 1854089;2123990 RH15733;WI-14960 C10orf41;FLJ00096;NCRNA00245 APPROVED ncrna ENSG00000237149 HGNC:23525 VALIDATED 1323782 ZNF503 zinc finger protein 503 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN G1 to G0 transition involved in cell differentiation; negative regulation of cell proliferation; negative regulation of gene expression; FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 2-methylcholine; aflatoxin B1 10 10 10 q22.2 70447236 70451147 - 77157602 77161513 - 75397844 75401755 - 737633;1580863;6480464 12477932 11827452;14702039;14983057;21139048;22863883;8125298 84858 Q96F45 ABBA01020253;AC010997;AI522172;AI701640;AK092897;AK127647;AK225851;AK290311;AMYH02023366;AW069047;BC007494;BC011625;BC013011;BC021165;BQ574961;BX105802;CH471083;HG503020;NM_032772;NR_120651 AAH07494;AAH11625;AAH13011;AAH21165;ABZ92074;BAC03999;BAF83000;BAG54540;EAW54579;EAW54580;EAW54581;NP_116161;Q96F45 Hs.195710 FLJ45745;MGC2555;NOLZ-1;NOLZ1 OTTHUMP00000019887 protein-coding ENSG00000165655 HGNC:23589 15811 613902 VALIDATED 1344770 ZNF506 zinc finger protein 506 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleolus; INTERACTS WITH aflatoxin B1; ethyl methanesulfonate; formaldehyde 19 19 19 p13.11 19808909 19837948 - 19896648 19932560 - 19792711 19821751 - 6480464 11256614;12477932;14702039;16344560;16412420;21890473;22505724 440515 F5H490;K7EIG2;K7EIP5;K7ENQ3;K7ERD0;K7ERD9;Q5JVG8 AB209500;ABBA01051342;ABBA01051343;AC011477;AI559570;AK095575;AK122848;AL136548;AMYH02035765;AMYH02035766;BC018100;BC034920;CA441296;CH471106;DA122515;NM_001099269;NM_001145404 AAH18100;BAD92737;BAG53088;CAB66483;EAW84861;NP_001092739;NP_001138876;Q5JVG8 Hs.351906 1339440;1700116;2220430;5014051;5015621;5015879;5020740;5021872;5024039;5037552;5492395;5493381 D11S3732;D16S325;D1S386;D8S2278;D8S2279;GDB:314949;L17809;RH103671;UniSTS:480893;UniSTS:481985;UniSTS:485891;sY3084 DKFZp761G1812;MGC27136 protein-coding HGNC:23780 VALIDATED 1315962 ZNF507 zinc finger protein 507 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; cyclosporin A 19 19 19 q13.11 29530154 29572221 + 32836514 32878573 + 32345608 32387667 + 1580863;6480464;8554872 10470851;12477932;15302935;16344560;8889548 22847 B9EGE7;Q8TCN5 AB029007;ABBA01039593;AC007773;AK126703;AK130905;AK292526;AL713775;AMYH02035917;AMYH02035918;BC110332;BC136417;BU681879;BX640881;CK820221;DB165165;NM_001136156;NM_014910 AAI10333;AAI36418;BAA83036;BAF85215;CAD28536;CAE45937;NP_001129628;NP_055725;Q8TCN5 Hs.205392 1646222;1657776;1712056;1712062;1849359 A006T48;G54008;G54011;RH48748;SGC36911 protein-coding ENSG00000168813 HGNC:23783 11722 VALIDATED 1352998 ZNF492 zinc finger protein 492 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH elemental selenium; selenium atom; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p12 22649154 22683895 + 22817126 22850472 + 22634324 22667670 + 1580863;6480464;8554872 10819331;12477932;16714237;17567985;22505724 57615 Q9P255 AB040906;ABBA01051413;ABBA01051414;ABBA01051415;AC011467;AC024563;AMYH02035827;BC110575;BP871882;NM_020855;XM_006722805 AAI60049;BAA95997;NP_065906;Q9P255;XP_006722868 Hs.232108 1750645;1775125;2220430;5015961;5022578;5037552;5492395;7186918 D15S1477;D19S1024;D1S1423;D8S2279;ERV3;SHGC-111956;UniSTS:480893;UniSTS:481985 KIAA1473;MGC129633;MGC148019;ZNF115 zinc finger protein 115 (Y20) protein-coding ENSG00000229676 HGNC:23707 VALIDATED 1345526 ZNF510 zinc finger protein 510 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH atrazine; cyclosporin A; hydrogen peroxide 9 9 9 q22.33 69959466 69981647 - 99518147 99540401 - 96755865 96778119 - 737633;1580863;6480464 12477932 10231032;15231748;15489334;19030899;21497587;23602568 22869 Q5SZP4;Q9Y2H8 AB023189;ABBA01043570;AK292600;AL589843;AMYH02021302;BC036676;BC058022;BC068587;CH471174;NM_014930;XM_005251807;XM_005251808;XM_005251809 AAH36676;AAH58022;AAH68587;ABZ92307;BAA76816;BAF85289;EAW92666;NP_055745;Q9Y2H8;XP_005251864;XP_005251865;XP_005251866 Hs.75264 1687319;1689801;1735920;2125433 D9S1057E;RH92152;RH99193;WI-15085 KIAA0972;MGC33740 OTTHUMP00000021734;OTTHUMP00000021735 protein-coding ENSG00000081386 HGNC:29161 18348 PROVISIONAL 1318442 ZNF511 zinc finger protein 511 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; disodium selenite; 17alpha-ethynylestradiol (ortholog) 10 10 10 q26.3 128390111 128394334 - 135122421 135126666 + 133308919 133313162 + 737633;1580863;6480464 12477932 14702039;15164054;15489334 118472 H7BY64;Q8NB15 ABBA01006209;AK091711;AK292380;AL360181;AMYH02024090;BC015139;BC019897;CH471211;NM_145806 AAH15139;AAH19897;ADZ15695;BAC03729;BAF85069;EAW61330;EAW61331;EAW61332;EAW61333;NP_665805;Q8NB15 Hs.422113 1681592;1776605 RH44474;RH80121 MGC30006 OTTHUMP00000020804;OTTHUMP00000020805 protein-coding HGNC:28445 15812 PROVISIONAL 1349628 ZNF512 zinc finger protein 512 This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012] 2 2 2 p23 27651321 27691419 + 27805836 27846082 + 27582969 27623215 + 737633;1580863;6480464;8554872 12477932 11347906;14702039;15342556;17210253;19454010;20602751;21139048;21386085;22359512;22586326;23362303;23505323;24457600 84450 B4DES6;B4E0X7;B7Z9P6;G3XAG1;Q96ME7 AB058708;ABBA01045211;ABBA01045212;ABBA01045213;AC074091;AK057028;AK074460;AK293771;AK294055;AK299818;AK316011;AK316299;AL514772;AL833748;AMYH02003480;BC015707;BC043221;BC093041;BF593724;BG720805;BP251717;BX647996;CH471053;NM_001271286;NM_001271287;NM_001271288;NM_001271289;NM_001271318;NM_032434 AAH43221;AAH93041;AAX93199;BAB47434;BAB71348;BAG57187;BAG61687;BAH11661;BAH14382;BAH14670;CAH56258;EAX00562;EAX00563;EAX00564;EAX00565;NP_001258215;NP_001258216;NP_001258217;NP_001258218;NP_001258247;NP_115810;Q96ME7 Hs.529178 1689434;1723527;1749459;1857602;2115764;5122480 RH118581;RH35836;RH80494;SHGC-111186;SHGC-52592;STS-Z41731 FLJ51176;KIAA1805;MGC111046 OTTHUMP00000123423;OTTHUMP00000123424 APPROVED protein-coding ENSG00000243943 HGNC:29380 10336 REVIEWED 1606523 ZNF512B zinc finger protein 512B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; cyclosporin A 20 20 20 q13.33 59274689 59287852 - 62588057 62601223 - 63956704 63969870 - 6480464 10574462;11780052;12477932;15231748;15489334;17081983;18029348;18187620;20211142;20639536;21182205;21665992;23168171;23752268;24816145 57473 Q96KM6 AB033022;ABBA01021434;AL118506;AL834525;AMYH02037476;AW453003;BC125128;BC125129;CH471077;NM_020713;XM_005260226;XR_430305 AAI25129;AAI25130;BAA86510;CAD39181;EAW75183;NP_065764;Q96KM6;XP_005260283 Hs.740578 1681105;2114012 AB056405;RH65337 GM632;KIAA1196;MGC149845;MGC149846 OTTHUMP00000031611 protein-coding ENSG00000196700 HGNC:29212 13840 VALIDATED 1347182 ZNF514 zinc finger protein 514 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; formaldehyde 2 2 2 q11.1 90164380 90176243 - 95813400 95825322 - 95147655 95165187 - 1580863;6480464 12477932;14702039;15489334;15815621;23602568 84874 C9K038;Q96K75 ABBA01003573;AC092835;AK027363;AL832263;AL833754;AMYH02004297;AX881891;BC068498;BC074900;BC074901;BC110524;BC110525;CH471219;NM_032788;XM_005264033;XM_006712805;XM_006712806 AAH74900;AAH74901;AAI10525;AAI10526;AAX88981;BAB55064;CAE91403;CAH56226;CAI46170;EAX10714;NP_116177;Q96K75;XP_005264090;XP_006712868;XP_006712869 Hs.655109 MGC126229;MGC126230 OTTHUMP00000160937;OTTHUMP00000207355 protein-coding ENSG00000144026 HGNC:25894 15814 PROVISIONAL 1346699 ZNF517 zinc finger protein 517 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred) 8 8 8 q24.3 142201765 142212033 + 146024261 146035461 + 144798876 144810076 + 6480464 12477932;14702039;16344560 340385 A0AV05;E9PIL1;G3V191;H0YCN3;Q6ZMY9 ABBA01005195;AF235103;AK096527;AK097278;AK131440;AMYH02019018;BC126161;BC143922;CH471162;DB016003;DB325820;KC877379;NM_213605;XM_006716553 AAI26162;AAI43923;ADR83032;BAD18586;EAW82043;EAW82044;EAW82045;EAW82046;NP_998770;Q6ZMY9;XP_006716616 Hs.521942 5016352;5022578;5109281 D1S1423;D1S1425;L30021 OTTHUMP00000228890;OTTHUMP00000228891;OTTHUMP00000228892;OTTHUMP00000228893 protein-coding ENSG00000197363 HGNC:27984 15815 VALIDATED 1343458 ZNF516 zinc finger protein 516 Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012] 18 18 18 q23 70889374 71024478 - 74069637 74207146 - 76357682 76495190 - 1580863;6480464;8554872 12477932;12700765;15302935;16079794;18029348;18976975;20834067;21903422;23064961;23432519;23602568;23752268;9039502 9658 F5H2K2;H0YH41;Q2YDX2;Q92618 ABBA01015276;ABBA01015277;AC009716;AC018413;AMYH02035011;AMYH02035012;AMYH02035013;BC108287;BC113085;BC113086;BC128041;CH471117;D16475;D86975;FP340564;KF456459;KF456462;NG_032949;NM_014643 AAI08288;BAA13211;EAW66578;NP_055458;Q92618 Hs.436973 1654958;1666662;1699936;1710738;1724785;1770172;2124239;2136460;2172055 Bdy31g08;RH103576;RH122599;RH17409;RH25428;RH46110;RH77883;SHGC-53625;SHGC-83997 HsT287 APPROVED protein-coding ENSG00000101493 HGNC:28990 615114 REVIEWED 5484046 ZNF503-AS1 ZNF503 antisense RNA 1 10 10 10 q22.2 70344421 70411010 + 77056141 77121436 + 75296383 75361678 + 14702039;15146197;16344560 253264 ABBA01020256;ABBA01020257;ABBA01020258;ABBA01020259;ABBA01020260;AC010997;AK023445;AMYH02023364;AMYH02023365;CB997793;CN360505;DA832441;HG503016;HG503017;HG503018;HG503019;NR_038223;NR_038224;NR_038225;NR_038226 Hs.662111 1685516;1855965 RH70331;RH92469 RP11-399K21.6 APPROVED ncrna ENSG00000226051 HGNC:27370 VALIDATED 1348764 ZNF518A zinc finger protein 518A The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 10 10 10 q24.1 91630675 91664729 + 97889472 97923517 + 96129715 96163761 + 737633;6480464;8554872 12477932 12168954;15231748;15489334;17081983;19460752;20562864;21139048;21890473;21906983;9205841 9849 Q6AHZ1 AB002333;ABBA01021831;AC021037;AMYH02023584;AW514026;BC030967;BC109045;BC109046;BE900217;CH471066;CR627437;FO082045;NG_033267;NM_001278524;NM_001278525;NM_001278526;NM_014803 AAH30967;AAI09046;AAI09047;BAA20793;CAH10523;EAW49983;NP_001265453;NP_001265454;NP_001265455;NP_055618;Q6AHZ1 Hs.600823;Hs.651650 1726673;1738985;2110093;2150264 D20S687;G62572;WI-18119;ZNF518_9006 DKFZp781O2147;MGC125707;MGC125710;ZNF518 OTTHUMP00000020169;zinc finger protein 518 protein-coding ENSG00000177853 HGNC:29009 18349 REVIEWED 1604562 ZNF518B zinc finger protein 518B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH formaldehyde; pirinixic acid; trichostatin A 4 4 4 p16.1 10906290 10923781 - 10441497 10459032 - 10439873 10457408 - 6480464;8554872 11214970;12477932;14702039;21890473;21906983;22505724;22939629;24250222 85460 D6RDM9;Q9C0D4 AB051516;ABBA01032519;AC110768;AK058072;AK092268;AK122755;AL833306;AMYH02008748;BC040874;BC067880;CD656908;CH471069;NM_053042;XM_005248193 BAB21820;BAB71650;EAW92692;NP_444270;Q9C0D4;XP_005248250 Hs.455089 1676083;1676532;1677933;1856418 RH92896;RH94209;SHGC-67322;SHGC-67700 KIAA1729 OTTHUMP00000217412;OTTHUMP00000217413 protein-coding ENSG00000178163 HGNC:29365 13889 VALIDATED 8662746 ZNF519P1 zinc finger protein 519 pseudogene 1 10 10 10 76048284 76049567 + 82057934 82059217 + 80298178 80299461 + 100419873 ABBA01003804;AL359195;AMYH02023415;NG_025526 pseudo HGNC:50785 INFERRED 1344388 ZNF493 zinc finger protein 493 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH clorgyline; copper(2+) sulfate; formaldehyde 19 19 19 p12 21414646 21445000 + 21579921 21610297 + 21397119 21427495 + 6480464 12477932;14702039;16344560;21890473;22505724 284443 M0QXT4;M0QY95;M0R1U0;Q6ZR52 AB209086;ABBA01051374;ABBA01051375;AC010615;AK092178;AK093823;AK095616;AK127476;AK128494;AMYH02035804;AMYH02035805;BC006408;BC022394;BC112346;BX648842;CH471106;DA804007;NM_001076678;NM_145326;NM_175910;XM_005259864;XM_005259865;XM_006722730;XM_006722731;XM_006722732 AAH06408;AAI12347;AAI67858;ABZ92091;BAC04591;BAC86997;BAC87465;BAD92323;EAW84896;EAW84898;EAW84899;NP_001070146;NP_663299;NP_787106;Q6ZR52;XP_005259921;XP_005259922;XP_006722793;XP_006722794;XP_006722795 Hs.656558 1678677;1851640;2220430;2220626;5015861;7185938 D10S16;RH65297;RH69422;UniSTS:481985;UniSTS:486333 FLJ36504 OTTHUMP00000180614;OTTHUMP00000180615;OTTHUMP00000180616 protein-coding ENSG00000196268 HGNC:23708 10043;15804 VALIDATED 8662581 ZNF519P2 zinc finger protein 519 pseudogene 2 15 15 15 q11.2 2489 3743 - 21105990 21107416 - 20900661 20902087 - 100287908 AC037471;NG_022098 pseudo HGNC:50786 INFERRED 8662577 ZNF519P3 zinc finger protein 519 pseudogene 3 15 15 q11.2 22117166 22118577 - 21911642 21913053 - 100288042 AC183089;AMYH02030012;NG_022099 pseudo HGNC:50787 INFERRED 1343967 ZNF52 zinc finger protein 52 1505991 7602 HGNC:13118 1352204 ZNF519 zinc finger protein 519 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN negative regulation of transcription during meiosis (inferred); regulation of transcription, DNA-templated (inferred); spermatogenesis (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; hydralazine 18 18 18 p11.21 13958163 14006658 - 14075989 14132489 - 14075990 14132490 - 737633;1580863;6480464;8554872 12477932 14702039;15489334;16344560;18987618;20211142;22505724 162655 K7EJG2;K7ERG6;Q8TB69 AB209417;ABBA01074043;AC006557;AK094128;AK096748;AK124851;AMYH02034357;BC010705;BC024227;BC037787;CH471113;DA525188;NM_145287;NR_033354;XM_006722299 AAH24227;ABZ92114;BAD92654;EAX01497;EAX01498;EAX01499;EAX01500;NP_660330;Q8TB69;XP_006722362 Hs.352635 2110915;7187967 D18S360E FLJ36809;FLJ42861;HsT2362 protein-coding HGNC:30574 15816 VALIDATED 1351738 ZNF524 zinc finger protein 524 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsane; arsenic atom; hydrogen peroxide 19 19 19 q13.42 53152869 53156793 + 56111730 56114504 + 55600364 55603138 + 737633;1580863;6480464 12477932 15489334;16341674;24024966;24250222 147807 K7EP10;Q96C55 ABBA01020863;AC008735;AMYH02036473;BC007396;BC014666;BC067748;BI756946;BM790568;NM_153219 AAH07396;AAH14666;AAH67748;ABM82630;ABM83149;ABM86345;NP_694951;Q96C55 Hs.440291 MGC23143 protein-coding ENSG00000171443 HGNC:28322 15817 VALIDATED 1345310 ZNF525 zinc finger protein 525 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsenous acid; diarsenic trioxide; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.42 50910346 50931227 + 53868968 53889843 + 53365715 53386590 + 1580863;6480464 11853319;14702039;16344560;21145461;21906983 170958 E7ENB8;E7EUL5;J3KR51;J3KR62;M0QZA4;Q8N782 AB075859;ABBA01068216;ABBA01068217;AC010467;AC125388;AK097037;AK098804;AMYH02036424;BQ028675;DB221179;NR_003699 BAB85565;BAC05417;Q8N782 Hs.352638 1686576;2114974;5019222;5096939;5107530 DXS8214;RH118661;RH76350;SHGC-37292;STS-N54526 KIAA1979 pseudo ENSG00000203326 HGNC:29423 VALIDATED 9586368 ZNF528-AS1 ZNF528 antisense RNA 1 19 q13.41 52396479 52397813 - 14702039 102724105 AC010332;AI056671;AK022990;AK097590;AMYH02036401;BI755704;BX537909;CR995924;NR_125345;XR_430257;XR_433589 Hs.188680 ncrna HGNC:51305 VALIDATED 1316488 ZNF521 zinc finger protein 521 ENCODES a protein that exhibits protein domain specific binding; INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; benzo[a]pyrene 18 18 18 q11.2 19457304 19745858 - 22641888 22932214 - 25061924 25352250 - 1580863;6480464;8554872 11984006;12393497;12477932;14630787;14702039;16344560;17543573;19049973;19322201;19342626;20392215;21593590;22379998;23752268;23907569 25925 H7BYU6;J3KSZ4;J3KT07;J3KTI4;J3QQI2;J3QRW6;Q96K83 ABBA01022592;ABBA01022593;ABBA01022594;AC104961;AC105114;AC110603;AF141339;AJ518106;AK021452;AK027354;AK074046;AK293067;AL117615;AMYH02034441;AMYH02034442;AMYH02034443;AMYH02034444;AMYH02034445;AMYH02034446;BC032869;BC113622;BC113648;BC143727;CA415157;CH471088;DA102816;EF445043;KF456355;KF456358;NM_015461;XM_005258241;XM_006722436;XM_006722437 AAG49442;AAH32869;AAI13623;AAI13649;ACA06095;BAB13829;BAB55056;BAB84872;BAF85756;CAB56016;CAD57322;EAX01201;NP_056276;Q96K83;XP_005258298;XP_006722499;XP_006722500 Hs.116935 1684361;1709124;1717119;1734602;1757671;1762033;1775364;2144070;2151944;2184811 D18S1375;D18S949E;G18026;G29231;RH121478;RH80689;SHGC-145950;SHGC-146211;SHGC-85723;STS-N93862 DKFZp564D0764;EHZF;Evi3;MGC142182;MGC142208 LYST-interacting protein 3;early hematopoietic zinc finger protein-coding ENSG00000198795 HGNC:24605 18350 610974 VALIDATED 1321365 ZNF513 zinc finger protein 513 The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 2 2 2 p23.3 27446768 27450259 - 27600098 27603733 - 27377231 27380866 - 737633;6480464;7240710;8554872;8699517 12477932 14702039;15221005;16344560;19913121;20211142;20301590;20628086;20797688;8889548 130557 C9JT52;Q8N8E2 AB075875;ABBA01045203;AC074117;AI766724;AK056765;AK096933;AK290690;AL833946;AMYH02003476;BC040650;BC052282;CA312898;CH471053;DB024976;NG_028219;NM_001201459;NM_144631;XM_005264142;XM_005264143 AAH40650;AAH52282;AAY14845;ABZ92098;BAB71274;BAC04903;BAD38657;BAF83379;CAD38801;EAX00583;NP_001188388;NP_653232;Q8N8E2;XP_005264199;XP_005264200 Hs.515872 1664351;1678733;1712128;1712164;1728995;2110669;2147203;2158404 D2S2598;G54114;PPM1G_7857;Ppm1g;RH75415;UniSTS:109369;WI-19785;WIAF-1573 FLJ32203;HMFT0656;RP58 OTTHUMP00000123420;OTTHUMP00000200791 APPROVED protein-coding ENSG00000163795 HGNC:26498 15813 613598;613617 REVIEWED 1347810 ZNF527 zinc finger protein 527 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate 19 19 19 q13.1 34662770 34684672 + 37862007 37883967 + 37371106 37393065 + 1580863;6480464 11347906;12477932;14702039;24250222 84503 K7ELI5;K7ENX6;K7ES26;Q0P6G1;Q8NB42 AB058732;ABBA01040624;AC008806;AK091585;AK301135;AMYH02036040;AMYH02036041;BC014325;CH471126;DC341389;NM_032453;XM_005259328;XM_005259329;XM_005259330;XM_005259331 AAH14325;BAB47458;BAC03701;BAG62727;EAW56727;NP_115829;Q8NB42;XP_005259385;XP_005259386;XP_005259387;XP_005259388 Hs.590940 1339673;1724795;1728301;1772075;5015861;5015961;5037552;5037554;7185938 D10S16;D15S1477;D19S713;D8S2279;D8S2282;G63432;GATA156F11;RH122604 KIAA1829 protein-coding ENSG00000189164 HGNC:29385 VALIDATED 1350395 ZNF528 zinc finger protein 528 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); aflatoxin B1 (ortholog) 19 19 19 q13 49951186 49971724 + 52900771 52921661 + 52397515 52418634 + 6480464;8554872 11347906;12477932;14702039;15489334;19322201;22505724 84436 C9JLS3;C9K0H2;F8WAL3;J3KQN0;M0QXZ2;M0QZG9;Q3MIS6 AB058730;ABBA01068255;ABBA01068256;AC010332;AK023429;AK056552;AL832630;AL833325;AMYH02036401;BC101712;BC111950;BX640670;CH471135;NM_032423;XM_005259316;XM_005259323;XM_005259324;XM_006723417;XM_006723418;XM_006723419;XM_006723420;XM_006723421;XM_006723422 AAI01713;AAI11951;ABZ92069;BAB47456;BAG51746;CAD89949;EAW72078;EAW72079;NP_115799;Q3MIS6;XP_005259373;XP_005259380;XP_005259381;XP_006723480;XP_006723481;XP_006723482;XP_006723483;XP_006723484;XP_006723485 Hs.662043 5015879;5016478;5037552;5124778 D8S2279;GDB:314949;GDB:434012;RH92897 KIAA1827;MGC126761;MGC138155 OTTHUMP00000209962;OTTHUMP00000209965 protein-coding ENSG00000167555 HGNC:29384 15820 615580 VALIDATED 9479283 ZNF529-AS1 ZNF529 antisense RNA 1 19 19 q13.12 37063871 37085610 + 36573067 36594708 + 101927599 ABBA01016203;ABBA01016204;ABBA01016205;AC092295;AMYH02036018;BC039524;BF432855;BM671220;CD248632;CK820070;CK820071;HG510718;HG510721;NR_110703;NR_110704;NR_110705;NR_110706;XR_243991;XR_248567;XR_253883;XR_424983;XR_424984;XR_430237;XR_430238;XR_433568;XR_433569 Hs.515376 ncrna ENSG00000233527 HGNC:51275 VALIDATED 1350299 ZNF530 zinc finger protein 530 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; bucladesine 19 19 19 q13.43 55154831 55163214 + 58111253 58124090 + 57599885 57612722 + 737633;6480464;8554872 12477932 10819331;14702039;21822266 348327 M0R0Y5;M0R1P0;Q6P9A1 AB040941;ABBA01020805;AC003682;AK096831;AL832740;AMYH02036518;BC060865;CH471135;NM_020880;XM_006723193;XM_006723194;XR_243929 AAC24609;AAH60865;ABZ92162;BAA96032;BAG53369;EAW72517;NP_065931;Q6P9A1;XP_006723256;XP_006723257 Hs.97111 KIAA1508 protein-coding ENSG00000183647 HGNC:29297 15822 VALIDATED 1353871 ZNF539 zinc finger protein 539 399655 BC043147;NM_203282 HGNC:20909 1604994 ZNF534 zinc finger protein 534 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); aflatoxin B1 (ortholog) 19 19 19 q13.41 49984739 49992765 + 52932394 52942720 + 52431414 52439446 + 6480464;8554872 22505724 147658 Q1T7F5;Q1T7F6;Q76KX8 AB086839;AB086840;ABBA01068254;AC010332;AMYH02036401;CH471135;HC044871;NM_001143938;NM_001143939;NM_001291368;NM_001291369 BAD13515;BAD13516;CBH30765;EAW72081;NP_001137410;NP_001137411;NP_001278297;NP_001278298;Q76KX8 Hs.447583 FLJ25344;KRBO3 KRAB domain only 3;KRAB domain only protein 3;OTTHUMP00000209961 protein-coding ENSG00000198633 HGNC:26337 VALIDATED 1351769 ZNF536 zinc finger protein 536 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); retinoic acid-responsive element binding (inferred); INVOLVED IN negative regulation of neuron differentiation (inferred); negative regulation of retinoic acid receptor signaling pathway (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; tunicamycin; cadmium dichloride (ortholog) 19 19 19 q12 27557080 27742730 + 30863328 31048966 + 30372381 30710824 + 1580863;6480464;8554872 12477932;14621294;17065439;17903293;18187620;19398580;22505724;22678362;23049088;23251661;23648065;23667531;23891004;24159190;9205841 9745 K7EJP8;K7EKT4;K7EQN6;O15090 AB002388;ABBA01039565;ABBA01039566;ABBA01039567;ABBA01039568;ABBA01039569;ABBA01039570;AC011454;AC011478;AC011504;AC011532;AC093034;AC093065;AMYH02035899;AMYH02035900;AMYH02035901;AMYH02035902;BC132720;BC132722;BC146757;BC150171;KF456545;KF456546;KF456547;KF456548;KF456549;KF456550;KF456551;KF456554;KF456555;KF456558;KF495818;NM_014717;XM_005259445;XM_006723512 AAI32721;AAI32723;AAI46758;AAI50172;BAA20844;NP_055532;O15090;XP_005259502;XP_006723575 Hs.378901 1673211;2126346;5017652;5094214 AFM324zg9;G54616;WI-22372;ZNF536 KIAA0390 protein-coding ENSG00000198597 HGNC:29025 15825 PROVISIONAL 1350187 ZNF53A zinc finger protein 53a 1505991 7603 HGNC:13119 1346629 ZNF53B zinc finger protein 53b 1505991 7604 HGNC:13120 1602838 ZNF526 zinc finger protein 526 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH diazinon; formaldehyde; N-nitrosodiethylamine (ortholog) 19 19 19 q13.2 39525287 39533148 + 42724492 42732353 + 42220340 42228201 + 6480464 11853319;12477932;14702039;24250222 116115 H9ZYJ3;M0R395;Q8TF50 AB075831;ABBA01040841;AC006486;AK055681;AK122649;AK298895;AL833399;AMYH02036142;AMYH02036143;BC013013;CH471126;JQ313906;NM_133444 AAH13013;AFH41800;BAB85537;BAG53641;BAG61006;CAH10586;EAW57113;NP_597701;Q8TF50 Hs.137282 1652928;2107785;2168069;5014051;5015619;5020740;5021872;5022576;5037552 D11S3114;D1S1361;D8S2278;D8S2279;L17809;RH78998;SHGC-37475;ZNF526__4868;sY3084 DKFZp762O059;KIAA1951;MGC4267 protein-coding ENSG00000167625 HGNC:29415 15818 614387 PROVISIONAL 1352644 ZNF542P zinc finger protein 542, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); hydrogen peroxide; lead(0) 19 19 19 q13.43 53922445 53934175 + 56879468 56891197 + 56368099 56379828 + 6480464 12477932;15489334;16344560 147947 Q5EBM4 ABBA01020836;AC006116;AK097128;AK297170;AL833621;AMYH02036492;BC064603;BC089419;BX510277;BX640680;BX647919;CH471135;DA095148;DA311525;DA679733;DA718087;DB051263;NR_003127;NR_024055;NR_024056;NR_024057;NR_033418 BAG53424;BAG59663;CAE45809;EAW72442;EAW72443;EAW72444;Q5EBM4 Hs.467326 DKFZp686B2197;DKFZp686I1219;ZNF542 APPROVED pseudo ENSG00000240225 HGNC:25393 15828 VALIDATED 1346331 ZNF540 zinc finger protein 540 ENCODES a protein that exhibits translation repressor activity, nucleic acid binding; INVOLVED IN negative regulation of transcription, DNA-templated; negative regulation of translation; FOUND IN cytoplasm; intracellular membrane-bounded organelle; nucleus; INTERACTS WITH diazinon; hydralazine; paracetamol 19 19 19 q13.12 34886421 34905691 + 38042273 38105080 + 37551371 37614179 + 1580863;6480464 12477932;14702039;15489334;16815308;18029348;22505724;24250222 163255 K7EK80;K7EQ46;K7ER55;Q8NDQ6 AB074186;ABBA01040630;ABBA01040631;AC022148;AK122597;AK131388;AK290486;AL832100;AL832315;AL832687;AMYH02036044;AMYH02036045;BC017940;BC126478;BC126480;BE464266;BF109653;BX537980;CH471126;KF573660;NM_001172225;NM_001172226;NM_152606 AAH17940;AAI26479;AAI26481;BAD18539;BAE45743;BAF83175;CAD38611;CAD91161;CAD97942;EAW56739;EAW56740;EAW56741;EAW56742;NP_001165696;NP_001165697;NP_689819;Q8NDQ6 Hs.728927 1651402 WI-14781 DKFZp313K2238;DKFZp547B0714;FLJ16004;Nbla10512 putative protein product of Nbla10512 protein-coding ENSG00000171817 HGNC:25331 15827 613903 VALIDATED 1321846 ZNF541 zinc finger protein 541 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); metal ion binding (inferred); INVOLVED IN cell differentiation (inferred); multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; arsenite(3-); atrazine 19 19 19 q13.33 44829652 44864820 - 48023942 48075994 - 47520685 47572737 - 1580863;6480464;8554872 11230166;12477932;15489334;21906983;8889548 84215 H7BXG6;M0R167;Q9H0D2 ABBA01041041;ABBA01041042;ABBA01041043;ABBA01041044;ABBA01041045;AC010331;AC016589;AC073548;AK314169;AL136846;AL833862;AMYH02036262;AMYH02036263;AMYH02036264;BC101050;BC101051;BC101052;BC101053;BM718437;CH471126;DT932577;KF456592;KF456597;NM_001277075;XM_005259311;XM_005259312;XM_005259313;XM_005259314;XM_006723414 AAI01051;AAI01052;AAI01053;AAI01054;CAB66780;CAD38720;EAW57499;EAW57500;EAW57501;NP_001264004;Q9H0D2;XP_005259368;XP_005259369;XP_005259370;XP_005259371;XP_006723477 Hs.14161 1688712;2150916 RH91552;STS-T77818 DKFZp434I1930;MGC119518;MGC119519;MGC119521 OTTHUMP00000180564 protein-coding ENSG00000118156 HGNC:25294 10337 VALIDATED 1603915 ZNF543 zinc finger protein 543 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 19 19 19 q13.43 54875150 54885849 + 57831865 57842144 + 57320497 57330776 + 6480464;8554872 12477932;16344560;19322201;22505724;22797925 125919 O14848;Q08ER8 ABBA01020812;AC005261;AF024696;AK131547;AL834534;AMYH02036512;BC101012;BC101013;BC101014;BC101015;CH471135;DA994943;KF456614;NM_213598 AAB81086;AAI01013;AAI01014;AAI01015;AAI01016;BAD18681;CAD39190;EAW72492;NP_998763;Q08ER8 Hs.202544 5014051;5015619;5022200;5037552 D11S3114;D8S2278;D8S2279;L18426 DKFZp434H055;MGC119382;MGC119384 protein-coding ENSG00000178229 HGNC:25281 15829 VALIDATED 1323323 ZNF532 zinc finger protein 532 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil; atrazine 18 18 18 q21.32 53247258 53371100 + 56529832 56653709 + 58862829 58986477 + 737633;1580863;6480464;8554872 12477932 10997877;14702039;18029348;19322201;20379614;20972266 55205 B3KXW2;K7EIU3;K7EJM2;K7EKV7;K7EL14;K7ELB7;K7ELQ2;K7EMF9;K7EN67;K7EP49;K7EPI7;K7EQN0;K7EQW7;K7ER18;K7ES47;Q9HCE3 AA953833;AB046849;ABBA01056158;ABBA01056159;ABBA01056160;ABBA01056161;ABBA01056162;AC040963;AC090233;AF295077;AK001559;AK128058;AK298971;AK308188;AK308571;AMYH02034817;AMYH02034818;AMYH02034819;AMYH02034820;AMYH02034821;AY039256;BC036366;BC130618;BC130620;BE219488;BF591635;CH471096;NM_018181;XM_005266722;XM_005266723;XM_005266724;XM_006722495;XM_006722496;XM_006722497;XM_006722498;XM_006722499;XR_430077;XR_430078;XR_430079;XR_430080 AAH36366;AAI30619;AAI30621;AAK72122;BAA91755;BAB13455;BAG54624;BAG61065;EAW63081;EAW63082;EAW63083;EAW63084;NP_060651;Q9HCE3;XP_005266779;XP_005266780;XP_005266781;XP_006722558;XP_006722559;XP_006722560;XP_006722561;XP_006722562 Hs.529023;Hs.607676 1334780;1335782;1710102;1783696 D18S1117;D18S1129;SHGC-153991;SHGC-83720 FLJ10697 OTTHUMP00000163645 protein-coding ENSG00000074657 HGNC:30940 11724 VALIDATED 1353081 ZNF529 zinc finger protein 529 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (+)-catechin; copper(2+) sulfate; cyclosporin A 19 19 19 q13.13 33819418 33880749 - 37034517 37096178 - 36543615 36605276 - 6480464 10997877;12477932;14702039;15342556;15489334;16344560;17207965;19322201;22505724 57711 K7EKM0;K7EL49;K7ELR0;K7ES80;K7ESA1;Q6P280 AB046835;ABBA01016201;ABBA01016202;ABBA01016203;ABBA01016204;ABBA01016205;AC092295;AK025110;AK091072;AK094618;AL109722;AMYH02036018;AMYH02036019;BC036578;BC064690;BP279443;BX503547;DA111996;DA503147;N62934;NM_001145649;NM_001145650;NM_020951;NR_027239;XM_006723302;XM_006723303;XM_006723304;XM_006723305 AAH64690;ADQ32998;BAB13441;BAB15068;NP_001139121;NP_001139122;NP_066002;Q6P280;XP_006723365;XP_006723366;XP_006723367;XP_006723368 Hs.654960 1648844;1655468;1660064;1665783;1707286;1707710;2126074;2163516;2172789;5015404;5015879;5020881;5022200;5492685;5494053 D19S672E;GDB:314949;L17705;L17709;L18426;RH12243;RH12273;RH47400;SHGC-58143;SHGC-79245;SHGC-82069;STS-N46427;UniSTS:480841;UniSTS:482016;UniSTS:77468 KIAA1615 protein-coding ENSG00000186020 HGNC:29328 15821 VALIDATED 1345922 ZNF544 zinc finger protein 544 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (S)-colchicine; adenine; cisplatin 19 19 19 q13.43 55783994 55818876 + 58739960 58788923 + 58228704 58263644 + 6480464 12477932;15489334;18029348;18821565 27300 J3KQC8;M0QX86;M0QY11;M0QZM7;M0QZY0;M0R0U7;M0R2F0;Q6NX49;Q8IVS5 ABBA01020777;AC020915;AF020591;AF024692;AK226080;AK290297;AK291656;AK296846;AK301650;AK316446;AL833618;AMYH02036531;AMYH02036532;BC018980;BC042177;BC067271;CB997427;CH471135;NM_014480 AAB81082;AAC01956;AAH42177;AAH67271;BAF82986;BAF84345;BAG59412;BAG63128;BAH14817;EAW72568;EAW72569;NP_055295;Q6NX49 Hs.438994 2110823;5021872;5022651;5108775 D11S2921;D3S1674;ZNF544__4874;sY3084 protein-coding ENSG00000198131 HGNC:16759 15830 PROVISIONAL 1354009 ZNF546 zinc finger protein 546 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH methyl methanesulfonate; valproic acid; 17alpha-ethynylestradiol (ortholog) 19 19 19 q13.2 37301314 37321882 + 40502943 40523514 + 39997036 40017607 + 737633;1580863;6480464 12477932 14702039;1505991;15489334;16344560;16751776;22505724;24250222 339327 B3KVL3;M0QXH5;M0QXR6;M0QY24;M0QZB2;M0R292;Q86UE3 ABBA01040738;AC007842;AC245507;AF087985;AK122968;AK172809;AK292528;BC045649;CH471126;DA217689;NM_001297763;NM_178544;XM_005258853;XM_005258854 AAH45649;BAD18779;BAF85217;BAG53825;EAW56930;EAW56931;NP_001284692;NP_848639;Q86UE3;XP_005258910;XP_005258911 Hs.125008;Hs.666807 1690848;1855993;2179434;5014023;5015861;7185938 D10S16;D13S1553;D19S1077;RH47586;RH80197 MGC43537;ZNF49 zinc finger protein 49 protein-coding ENSG00000187187 HGNC:28671 11726 VALIDATED 1349618 ZNF54A zinc finger protein 54a 1505991 7605 HGNC:13121 1344121 ZNF549 zinc finger protein 549 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH fonofos; parathion; terbufos 19 19 19 q13.43 55082272 55095710 + 58038693 58052244 + 57527275 57540880 + 737633;6480464 12477932 14702039;15489334;16344560;21890473 256051 M0QXN3;M0R0L6;Q6P9A3 ABBA01020806;AC003682;AK092236;AK094139;AK122749;AK122766;AL833090;AMYH02036518;BC060863;CH471135;DB088874;NM_001199295;NM_153263;XM_006723128 AAC24605;AAH60863;ABZ92124;ACE86715;ACE87401;BAC03834;BAG53703;EAW72509;EAW72510;EAW72511;EAW72512;NP_001186224;NP_694995;Q6P9A3;XP_006723191 Hs.744289 2142162;2219770;5015619;5015961 D11S3114;D15S1477;SHGC-32532;ZNF549__4875 FLJ34917 protein-coding ENSG00000121406 HGNC:26632 15833 VALIDATED 1350845 ZNF547 zinc finger protein 547 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; valproic acid 19 19 19 q13.43 54918600 54934634 + 57874891 57890927 + 57363523 57379559 + 1580863;6480464;8554872 12477932;14702039;15489334 284306 M0QX63;M0QYW2;M0QZZ8;Q8IVP9 ABBA01020812;AC003002;AK055662;AK291464;AL832545;AMYH02036513;AMYH02036514;BC042681;CH471135;NM_173631 AAH42681;ABZ92157;BAB70979;BAF84153;EAW72497;EAW72498;NP_775902;Q8IVP9 Hs.446620 1783802;1858448 RH18335;SHGC-145196 FLJ31100 protein-coding ENSG00000152433 HGNC:26432 15831 VALIDATED 1347267 ZNF548 zinc finger protein 548 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; methyl methanesulfonate 19 19 19 q13.43 54944926 54957627 + 57901218 57913919 + 57389850 57402551 + 737633;6480464 12477932 14702039;15342556;15489334;21890473 147694 M0QX17;M0QXE2;M0QY53;M0QYA3;M0R041;M0R1K1;M0R2J6;M0R354;M0R3F2;Q8NEK5 ABBA01020810;ABBA01020811;ABBA01020812;AC003002;AK057494;AK299069;AMYH02036514;AMYH02036515;AMYH02036516;AW449330;BC030788;BP244372;CH471135;NM_001172773;NM_152909;XM_005258535 AAH30788;BAB71509;BAG61135;EAW72499;NP_001166244;NP_690873;Q8NEK5;XP_005258592 Hs.126905 5020946;5022200;5022651;5037552 D11S2921;D8S2279;L17971;L18426 FLJ32932 protein-coding HGNC:26561 15832 VALIDATED 1347081 ZNF54B zinc finger protein 54b 1505991 7606 HGNC:13122 1346734 ZNF55 zinc finger protein 55 19p 1580863 1505991;1946370 7607 Q15927 M88365 AAA61323;Q15927 protein-coding HGNC:13123 1346032 ZNF550 zinc finger protein 550 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; ethyl methanesulfonate 19 19 19 q13.43 55101922 55111303 - 58053204 58071231 - 57541836 57559863 - 737633;1580863;6480464 12477932 14702039;15057824;15489334;15592455;8889548 162972 M0QWZ8;M0R337;Q7Z398 ABBA01020806;AC003682;AI114826;AK122867;AK312802;AL833214;AMYH02036518;BC034810;BC053858;BM684850;BX538032;CH471135;CX756948;NM_001277090;NM_001277091;NM_001277092;NM_001277093 AAC24606;AAH34810;AAH53858;ABZ92116;ACE86701;ACE87385;BAG53768;CAD97977;EAW72513;NP_001264019;NP_001264020;NP_001264021;NP_001264022;Q7Z398 Hs.180257 1666968;5022578;5024039;5037552 D16S325;D1S1423;D8S2279;SHGC-30341 MGC41917 protein-coding ENSG00000251369 HGNC:28643 15834 VALIDATED 1346175 ZNF554 zinc finger protein 554 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH amiodarone; arsenous acid; cadmium atom 19 19 19 p13.3 2755172 2772063 + 2819872 2836733 + 2819874 2836735 + 737633;6480464 12477932 10737800;14702039;15489334;19322201;21145461;22505724;24250222 115196 B3KNM4;K7EIR8;K7EQV8;Q86TJ5 ABBA01002771;AC006130;AC006538;AK027860;AK092136;AK299752;AMYH02035217;AMYH02035218;BC000113;BC047777;BF772510;CH471139;DC319914;NM_001102651;XM_006722634;XM_006722635 AAH00113;AAH47777;BAC03814;BAG51386;BAG61642;EAW69361;EAW69362;EAW69363;NP_001096121;Q86TJ5;XP_006722697;XP_006722698 Hs.307043 5014051;5015961;5016478;5017266;5022200;5022576;5022578;5022651;5024272;5037552 D11S2921;D15S1477;D1S1361;D1S1423;D2S1254;D8S2278;D8S2279;GDB:434012;L18426;L18506 FLJ34817 protein-coding ENSG00000172006 HGNC:26629 15837 VALIDATED 1348729 ZNF551 zinc finger protein 551 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid 19 19 19 q13.43 55236894 55244716 + 58193337 58201179 + 57681969 57689811 + 737633;1580863;6480464;8554872 12477932 14702039;15302935;15489334;21890473;2288909;24250222 90233 M0R209;M0R2M4;Q7Z340 ABBA01020805;AC004017;AK091273;AK300465;AK307670;AMYH02036519;BC005868;BX538151;CH471135;DC376440;NM_001270938;NM_138347;NR_073102;X52354 AAH05868;BAC03625;BAG62184;CAA36580;CAD98037;EAW72524;NP_001257867;NP_612356;Q7Z340 Hs.109540 1650958;2178266;2185139;5016781;5020635 D19S675E;D7S3207;RH12298;SHGC-67307;WI-13703 DKFZp686H1038;MGC52307 KOX 23 protein (56 AA);zinc finger protein KOX23 protein-coding ENSG00000204519 HGNC:25108 11727 VALIDATED 1353094 ZNF556 zinc finger protein 556 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; hydralazine 19 19 19 p13.3 2802646 2813816 + 2867333 2878515 + 2867335 2878517 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;19322201;20211142;22082156 80032 K7EKA5;Q9HAH1 ABBA01002772;AC006130;AK021699;AK225297;AMYH02035219;AMYH02035220;BC009374;CH471139;NM_001300843;NM_024967;XM_005259647 AAH09374;ABZ92063;BAB13878;EAW69357;EAW69358;NP_001287772;NP_079243;Q9HAH1;XP_005259704 Hs.287433 5015619;5037552 D11S3114;D8S2279 FLJ11637 protein-coding ENSG00000172000 HGNC:25669 15839 PROVISIONAL 1351619 ZNF552 zinc finger protein 552 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 3-methylcholanthrene; 5-fluorouracil; cadmium atom 19 19 19 q13.43 55361943 55369771 - 58318450 58326529 - 57807082 57815161 - 1580863;6480464 12477932;14702039;16344560;18976975;20356460;20360068;20562864;8125298 79818 B7Z1H1;M0QZ81;M0R2C3;Q9H707 ABBA01020799;AC010645;AK025256;AK097041;AK225219;AK293445;AMYH02036522;BC017460;BC046237;BC062982;BC082767;CH471135;DA345819;NM_024762;XM_005259267 AAH46237;AAH62982;AAH82767;BAB15093;BAG53411;BAH11507;EAW72535;NP_079038;Q9H707;XP_005259324 Hs.560727 1689380;1776067;1851089;2157552;5024545;5037552;5493003 D1S3695;D8S2279;RH68037;RH77994;RH93566;SHGC-59924;UniSTS:483660 FLJ21603 protein-coding ENSG00000178935 HGNC:26135 15835 VALIDATED 1350400 ZNF555 zinc finger protein 555 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; cyclosporin A 19 19 19 p13.3 2776763 2795803 + 2841433 2860472 + 2841435 2860474 + 737633;6480464;8554872 12477932 11076863;11230166;14702039;15489334;15489336;16381901;22505724;8619474;9110174 148254 K7ENK0;Q8NEP9 ABBA01002772;AC006130;AF052118;AK056659;AK093163;AK123888;AK292954;AL832140;AMYH02035218;BC022022;BX647423;CH471139;NM_001172775;NM_152791 AAH22022;ABZ92112;ACE86840;ACE87527;BAC04082;BAF85643;CAL38742;EAW69360;NP_001166246;NP_690004;Q8NEP9 Hs.47712 5016596;5020948;5024516 D13S1568;G35510;GDB:631802 FLJ41894;MGC26707 protein-coding ENSG00000186300 HGNC:28382 15838 VALIDATED 1345414 ZNF557 zinc finger protein 557 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; atrazine; benzo[a]pyrene 19 19 19 p13.2 7006567 7025061 + 7069471 7087979 + 7069460 7087968 + 737633;6480464 12477932 14702039;15231748;15489334;15851553;22505724;23455924 79230 Q4G137;Q8N988 ABBA01051481;ABBA01051482;AC010606;AK095524;AK297283;AK315405;AMYH02035376;BC003020;BC031208;BC058040;CD723611;CH471139;NM_001044387;NM_001044388;NM_024341 AAH03020;AAH31208;AAH58040;BAC04567;BAG37797;BAG59754;EAW69048;EAW69049;EAW69050;NP_001037852;NP_001037853;NP_077317;Q8N988 Hs.591380 1646387;2168366;5016700;5022578;5109281 D1S1423;D1S1425;RH47261;RH79802;STS-W15284 FLJ96454;MGC4054 CTB-25J19.9 protein-coding ENSG00000130544 HGNC:28632 15840 VALIDATED 1350457 ZNF56 zinc finger protein 56 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 19 19 19 p13.1 19844251 19853618 + 19938863 19948229 + 19828054 19837420 + 1580863 1505991;1946370 7608 Q15929 ABBA01051343;AC011477;AMYH02035766;M88366;NG_023190 AAA61324;Q15929 ZNF742 putative zinc finger protein 56 pseudo HGNC:13124 INFERRED 5507839 ZNF559-ZNF177 ZNF559-ZNF177 readthrough This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 559 (ZNF559) and zinc finger protein 177 (ZNF177) genes on chromosome 19. Alternative splicing results in multiple transcript variants, which encode the ZNF177 protein due to either leaky scanning by ribosomes, or absence of the ZNF559 start codon. [provided by RefSeq, Jan 2011] 19 19 p 9434902 9493293 + 9324226 9382617 + 6480464 11549323;12477932;15489334;20967262;8661005 100529215 Q13360;S4R342;S4R365;S4R367;S4R3A1;S4R3B1;S4R3H7;S4R3Q2;S4R3T9;S4R401;S4R422 ABBA01029978;AC011451;AMYH02035465;AMYH02035466;BC034489;NM_001172650;NM_001202425;U37251 AAB09748;NP_001166121;NP_001189354;Q13360 Hs.728944 1671360;2162836;2220030 SHGC-31653;WI-14794;ZNF177__4969 zinc finger protein 177 protein-coding ENSG00000270011 HGNC:42964 VALIDATED 1347483 ZNF560 zinc finger protein 560 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p13.2 9472491 9504739 - 9577031 9609279 - 9466355 9498603 - 1580863;6480464;8554872 12477932;14702039;15489334;16344560;22505724 147741 Q96MR9 ABBA01029974;ABBA01029975;ABBA01029976;AC008567;AC011451;AK056548;AMYH02035467;BC101039;BC101040;BC101041;BC101042;CH471106;DA744260;NM_152476;T41372 AAI01041;AAI01042;AAI01043;ABZ92107;BAB71213;EAW84037;NP_689689;Q96MR9 Hs.631613 FLJ31986;MGC119490;MGC119493 protein-coding ENSG00000198028 HGNC:26484 15842 VALIDATED 1352023 ZNF559 zinc finger protein 559 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; 5-aza-2'-deoxycytidine; atrazine 19 19 19 p13.2 9330373 9349965 + 9434448 9461838 + 9323772 9343845 + 737633;1580863;6480464 12477932 14702039;15342556;15489334;16189514;16344560;22505724;24250222;8889548 84527 B3KPL8;B4DP29;K7EK98;K7EKU6;K7EM21;K7EN17;K7EQI4;K7ERK9;Q3LIC1;Q9BR84;S4R3F2;S4R3U0 AB075488;ABBA01029978;AC011451;AK027700;AK056489;AK092348;AK298169;AK308517;AK309952;AK310020;AK310117;AK310781;AL389937;AL389938;AMYH02035465;AMYH02035466;AX882778;BC006436;BC015058;BP337457;BP417021;BU608632;CF597362;CH471106;DA457855;DA509657;DA517887;DA731101;DA743493;DA774704;DB158737;DB288007;NM_001202406;NM_001202407;NM_001202408;NM_001202409;NM_001202410;NM_001202411;NM_001202412;NM_032497 AAH06436;ABM84333;ABM87724;BAE45747;BAG51730;BAG60441;CAE91726;EAW84026;EAW84027;EAW84028;EAW84029;EAW84030;NP_001189335;NP_001189336;NP_001189337;NP_001189338;NP_001189339;NP_001189340;NP_001189341;NP_115886;Q9BR84 Hs.172979;Hs.744296 1855462;1855464 HSC11G032;SHGC-30311 MGC13105;Nbla00121 putative protein product of Nbla00121 protein-coding ENSG00000188321 HGNC:28197 18352 VALIDATED 1344239 ZNF561 zinc finger protein 561 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene 19 19 19 p13.2 9613441 9627367 - 9718002 9731916 - 9607326 9621240 - 737633;1580863;6480464 12477932 14702039;15342556;15489334;19322201 93134 A8KAD9;C9IZJ4;C9J7U2;C9JQP3;F2Z3H5;F8W7U5;F8WAU2;F8WBU1;Q8N587 ABBA01029969;AC008759;AK074787;AK122974;AK293004;AK304383;AMYH02035469;BC012144;BC032668;BP230901;CA415776;CA436025;CH471106;NM_152289;XM_005260150;XM_005260151;XM_006722938;XM_006722939 AAH12144;AAH32668;ABZ92088;BAF85693;BAG65220;EAW84043;NP_689502;Q8N587;XP_005260207;XP_005260208;XP_006723001;XP_006723002 Hs.720081 1339347;2124945;2165520;5021872;5022578 D19S403;D1S1423;RH66058;STS-H99774;sY3084 MGC45408 OTTHUMP00000211390;OTTHUMP00000211396;OTTHUMP00000211431 protein-coding ENSG00000171469 HGNC:28684 15843 VALIDATED 1354483 ZNF562 zinc finger protein 562 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH aflatoxin B1; atrazine; cobalt dichloride 19 19 19 p13.2 9654781 9681221 - 9759330 9785776 - 9648654 9675100 - 6480464 11827452;12477932;14702039;15342556;19322201;20379614 54811 B4DZP9;B4E2P7;K7EIE6;K7ELE4;K7EN01;K7ENE4;K7EQZ2;Q6V9R5 ABBA01029969;AC008759;AI753280;AK000086;AK297446;AK300115;AK303038;AK304370;AMYH02035469;AMYH02035470;AY346375;BC109062;BP221824;CH471106;DC403290;DC405554;NM_001130031;NM_001130032;NM_001300885;NM_017656;XM_005259941;XM_005259942;XM_005259944;XM_005259945;XM_005259947;XM_005259950;XM_005259951;XM_005259952;XM_006722774;XM_006722775;XM_006722776;XM_006722777;XM_006722778;XM_006722779 AAI09063;AAQ54330;ABZ92342;BAA90935;BAG59872;BAG61910;BAG64161;BAG65209;EAW84044;EAW84045;EAW84046;EAW84047;NP_001123503;NP_001123504;NP_001287814;NP_060126;Q6V9R5;XP_005259998;XP_005259999;XP_005260001;XP_005260002;XP_005260004;XP_005260007;XP_005260008;XP_005260009;XP_006722837;XP_006722838;XP_006722839;XP_006722840;XP_006722841;XP_006722842 Hs.371107 1852508;2130004 RH16536;SHGC-54214 FLJ20079;MGC126160 protein-coding ENSG00000171466 HGNC:25950 15844 VALIDATED 1350383 ZNF563 zinc finger protein 563 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; silicon dioxide 19 19 19 p13.2 12322117 12338360 - 12428291 12444534 - 12317477 12333720 - 737633;1580863;6480464 12477932 14702039;15489334;16344560;17207965;22505724 147837 M0R1L6;M0R1Q6;Q8TA94 ABBA01029801;AC012618;AK092116;AK313755;AMYH02035547;BC022523;CH471106;DA687547;NM_145276;XM_005259748;XM_005259750;XM_005259751;XM_005259752;XM_006722650;XM_006722651;XM_006722652 AAH22523;ADQ31812;BAC03810;BAG36494;EAW84268;EAW84269;NP_660319;Q8TA94;XP_005259805;XP_005259807;XP_005259808;XP_005259809;XP_006722713;XP_006722714;XP_006722715 Hs.663510 5022200;5022651;5118802 D11S2921;D11S3665;L18426 FLJ34797 OTTHUMP00000209852 protein-coding ENSG00000188868 HGNC:30498 15845 VALIDATED 1347487 ZNF564 zinc finger protein 564 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; cyclosporin A; ethyl methanesulfonate 19 19 19 p13.2 12529968 12556146 - 12636184 12691789 - 12525370 12551542 - 1580863;6480464;8554872 12477932;14702039;15489334;16344560;22505724 163050 C9JLM4;F8WD42;M0QZN8;Q8TBZ8 ABBA01029793;AC010422;AK092760;AL834146;AMYH02035549;BC028367;BC065023;BC136728;BC136729;BX647959;DA619098;NM_144976 AAH28367;AAH65023;AAI36729;AAI36730;BAC03967;NP_659413;Q8TBZ8 Hs.655615 1771276;1858169;2178899;5014051;5015619;5016478;5022322;5022463;5022651;5024761;5037552 D11S2560;D11S2921;D11S3114;D3S1673;D8S2278;D8S2279;GDB:434012;RH16545;RH36905;SGC33281;WI-11288 FLJ38281;MGC26914 OTTHUMP00000209855 protein-coding ENSG00000249709 HGNC:31106 10338 VALIDATED 1344264 ZNF565 zinc finger protein 565 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; formaldehyde 19 19 19 q13.12 33388355 33421149 - 36673187 36705986 - 36182060 36215084 - 1580863;6480464;8554872 12477932;14702039;15489334;16344560;24250222 147929 K7EL42;K7ESE2;Q8N9K5 AA476586;ABBA01018780;ABBA01018781;ABBA01018782;ABBA01018783;AC008848;AC012617;AK057290;AK094310;AK308212;AMYH02036002;BC068453;CB960081;DA473136;DA766324;DB473200;NM_001042474;NM_152477;XM_005258553 AAH68453;BAC04328;BAG51897;NP_001035939;NP_689690;Q8N9K5;XP_005258610 Hs.596338 2126353 WI-11629 FLJ36991 protein-coding ENSG00000196357 HGNC:26726 15846 614275 VALIDATED 1346041 ZNF567 zinc finger protein 567 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; 4-(ethoxymethylene)-2-phenyloxazol-5-one; aflatoxin B1 19 19 19 q13.12 33964887 33996810 + 37178466 37212428 + 36687628 36723350 + 737633;1580863;6480464 12477932 14702039;15489334;16189514;20211142;21890473 163081 F8WEL6;K7EMD5;K7ESK1;Q8N184 AA742659;ABBA01016198;AC074138;AK093034;AK126691;AK298556;AK303326;AK313647;AMYH02036022;BC033849;BF209248;BX640706;HY089322;NM_001300979;NM_152603;XM_006723064;XM_006723065 AAH33849;ABM82260;ABM85443;BAG36403;BAG52638;BAG54361;BAG60751;BAG64392;CAE45826;NP_001287908;NP_689816;Q8N184;XP_006723127;XP_006723128 Hs.412517;Hs.654967 1337226 D19S909 MGC45586 protein-coding ENSG00000189042 HGNC:28696 11728 VALIDATED 1342686 ZNF568 zinc finger protein 568 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene; silicon dioxide; valproic acid 19 19 19 q13.12 34191526 34226724 + 37407231 37488834 + 36916329 36997932 + 1580863;6480464;8554872 12477932;14702039;16344560;20562864;20855565;22505724;23071813;23455922;24654937 374900 A2VDJ6;C9JLX5;C9JXQ5;C9JZ58;C9K0F2;K7EKY2;K7EL97;K7ELK8;Q3ZCX4;Q96AZ9 ABBA01016187;ABBA01016188;ABBA01016189;ABBA01016190;AC008733;AK093123;AK095559;AK299626;AMYH02036027;AMYH02036028;AMYH02036029;BC016334;BC031218;BC041927;BC108696;BC111777;BC131547;BX640681;DA010273;NM_001204835;NM_001204836;NM_001204837;NM_001204838;NM_001204839;NM_198539 AAH16334;AAH31218;AAI31548;BAC04064;BAG61554;CAE45810;NP_001191764;NP_001191765;NP_001191766;NP_001191767;NP_001191768;NP_940941;Q3ZCX4 Hs.404220;Hs.733385 5022578;5024039 D16S325;D1S1423 DKFZp667O0524;DKFZp686B0797;FLJ34820;FLJ35804 OTTHUMP00000207214;OTTHUMP00000207215;OTTHUMP00000207217 protein-coding ENSG00000198453 HGNC:25392 15848 VALIDATED 1354291 ZNF569 zinc finger protein 569 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 19 19 19 q13.12 34702749 34759034 - 37901778 37960167 - 37410876 37469009 - 737633;6480464;8554872 12477932 14702039;1505991;16712791;16793018;1946370;20562864 148266 K7EJ12;K7EKE0;K7ELU1;K7ENQ2;Q5MCW4 ABBA01040625;ABBA01040626;AC008806;AK056615;AK122846;AK289987;AL833408;AMYH02036041;AMYH02036042;AY835704;BC032896;BC038737;BC059407;BC117219;CB151734;CH471126;M88363;NM_152484;XM_005258564;XM_006723046;XM_006723047;XM_006723048;XM_006723049 AAA61321;AAI17220;AAV97944;BAF82676;EAW56728;EAW56729;EAW56730;EAW56731;NP_689697;Q5MCW4;XP_005258621;XP_006723109;XP_006723110;XP_006723111;XP_006723112 Hs.511848 1662746;1728601;2170587 G63592;RH78974;SHGC-37349 FLJ32053;ZAP1;ZNF DNA-binding protein protein-coding ENSG00000196437 HGNC:24737 15849 613904 VALIDATED 1343175 ZNF57 zinc finger protein 57 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; formaldehyde 19 19 19 p13.3 2836358 2852615 + 2900896 2918641 + 2900898 2918476 + 6480464;8554872 12477932;1505991;15489334;1946370;20356463;22505724;23455924 126295 A5HJR3;E5RHE3;G3V131;K7ERB8;Q68EA5 ABBA01002776;ABBA01002777;ABBA01002778;AC119403;AK302165;AK314848;AMYH02035221;AMYH02035222;AMYH02035223;AMYH02035224;BC028974;BX537601;CH471139;EF534355;M88368;NM_173480 AAA61326;AAH28974;ABQ10558;ABZ92096;BAG37365;BAG63532;CAH18455;EAW69355;EAW69356;NP_775751;Q68EA5 Hs.591378 ZNF424 OTTHUMP00000226809;OTTHUMP00000226869;zinc finger protein 424 protein-coding ENSG00000171970 HGNC:13125 14034 VALIDATED 1349071 ZNF570 zinc finger protein 570 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH fonofos; parathion; terbufos 19 19 19 q13.12 34760677 34776935 + 37958463 37976242 + 37467772 37485340 + 1580863;6480464;8554872 12477932;14702039;22505724 148268 K7EMF5;K7ENX9;K7EP39;K7EP64;K7EQY8;Q96NI8 ABBA01040626;AC008806;AK055353;AK297561;AK308252;AMYH02036042;AMYH02036043;BC130425;BC130433;BQ773525;CH471126;DB025563;NM_001300993;NM_144694;XM_005258565;XM_005258567 AAI30426;AAI30434;BAB70908;BAG59953;EAW56732;NP_001287922;NP_653295;Q96NI8;XP_005258622;XP_005258624 Hs.350875 FLJ30791 OTTHUMP00000045851 protein-coding ENSG00000171827 HGNC:26416 11729 VALIDATED 1348018 ZNF558 zinc finger protein 558 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH cyclosporin A; silicon dioxide; 17alpha-ethynylestradiol (ortholog) 19 19 19 p13.2 8803181 8816361 - 8920250 8942972 - 8809574 8832296 - 1580863;6480464 12477932;14702039;15231747;15489334;21163940 148156 Q96NG5 ABBA01014652;AC008734;AC012616;AK055494;AK291265;AK301664;AK307200;AMYH02035452;BC064356;CH471106;KC877699;NM_144693;XM_005259755;XM_005259756 AAH64356;ABZ92111;BAB70934;BAF83954;BAH13534;EAW83994;EAW83995;NP_653294;Q96NG5;XP_005259812;XP_005259813 Hs.659797 1703866;2110827 SHGC-79037;ZNF558__4881 FLJ30932 protein-coding ENSG00000167785 HGNC:26422 15841 PROVISIONAL 7245574 ZNF561-AS1 ZNF561 antisense RNA 1 (head to head) 19 19 19 p13.2 9627609 9652023 + 9732158 9745538 + 9621482 9634862 + 12477932;14702039 284385 K7EIQ3;K7ERB4;K7ESJ5 ABBA01029969;AC008759;AK097685;AL525141;AMYH02035469;BC143540;DB487189;NM_001242812;NR_122038 K7EIQ3;NP_001229741 Hs.651747;Hs.733676 1768469;1851448 SHGC-7127;WI-11783 C19orf82 uncharacterized protein C19orf82;uncharacterized protein LOC284385 APPROVED ncrna HGNC:27613 VALIDATED 7244571 ZNF571-AS1 ZNF571 antisense RNA 1 19 19 19 34840542 34879705 + 38039851 38078249 + 37548949 37587348 + 12477932 100507433 ABBA01040630;ABBA01040631;AC022148;AMYH02036044;BC042488;BC043284;BC044917;BC063448;BC110871;BX647800;HG510753;HG510755;HG510756;HG510757;HG510758;HG510759;HG510760;HG510762;KF573660;NR_038247;NR_038248;NR_038249;NR_038250 Hs.121283 2141161;5020948 G35510;RH12326 ncrna ENSG00000267470 HGNC:44324 VALIDATED 1349368 ZNF566 zinc finger protein 566 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; dioxygen; valproic acid 19 19 19 q13.12 33720996 33765440 - 36936021 36980804 - 36445119 36489902 - 737633;1580863;6480464 12477932 14702039;15342556;15489334;20360068;20562864;21549307;21890473;21988832;22797925 84924 B4DRR6;C9J2D3;C9J6X1;K7EQC1;Q969W8 ABBA01016205;ABBA01016206;AC092295;AC092296;AK027685;AK074497;AK299393;AK316262;AMYH02036016;AMYH02036017;AMYH02036018;BC007064;BC104886;BC104888;BC143658;BP351422;BQ269572;BX649070;DA116442;DC373988;DC413210;HY178567;NM_001145343;NM_001145344;NM_001145345;NM_001300970;NM_032838;XM_005259354;XM_005259356;XM_006723447;XM_006723448 AAH07064;AAI04887;AAI04889;AAI43659;ABZ92076;BAB55296;BAC11023;BAG61378;BAH14633;NP_001138815;NP_001138816;NP_001138817;NP_001287899;NP_116227;Q969W8;XP_005259411;XP_005259413;XP_006723510;XP_006723511 Hs.533939 1767479;2150897;5037552 D8S2279;RH18261;RH65930 FLJ14779;MGC12515 OTTHUMP00000045831;OTTHUMP00000208411;OTTHUMP00000208412;OTTHUMP00000208413 protein-coding ENSG00000186017 HGNC:25919 15847 VALIDATED 1353007 ZNF572 zinc finger protein 572 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus; INTERACTS WITH (+)-catechin; arsenite(3-); copper(2+) sulfate 8 8 8 q24.13 122173876 122179968 + 125985539 125991631 + 124973297 124979389 + 1580863;6480464 11076863;11230166;11256614;12477932;14702039;15489336;16344560;16381901 137209 Q7Z3I7 ABBA01037906;AC009908;AK095321;AMYH02018726;BC130515;BC130517;BX537876;CH471060;DB093007;NM_152412 AAI30516;AAI30518;ADR83211;BAC04529;CAD97876;CAL38262;EAW92077;NP_689625;Q7Z3I7 Hs.175350 2166607;2220048;5024543 D1S3690;WI-5950;ZNF572__4887 FLJ38002 OTTHUMP00000228144 protein-coding ENSG00000180938 HGNC:26758 15851 VALIDATED 1345171 ZNF571 zinc finger protein 571 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); viral life cycle (inferred); FOUND IN nucleus; INTERACTS WITH cyclosporin A; elemental selenium; formaldehyde 19 19 19 q13.12 34855837 34886363 - 38055155 38085673 - 37564253 37594772 - 1580863;6480464 11042152;11076863;11230166;11256614;12477932;14702039;15489334;15489336;16381901;22505724;24250222 51276 A8K5U8;K7ELU5;K7ERB9;Q7Z3V5 ABBA01040631;AC022148;AF161544;AK055039;AK131351;AK291413;AMYH02036044;BC040591;BC113870;BC114479;BP312315;BX537401;CH471126;KF573660;NM_001290314;NM_016536;XM_005258977;XM_005258979;XM_006723239 AAF29031;AAH40591;AAI13871;AAI14480;ABZ92332;BAF84102;CAD97643;CAL37804;EAW56737;EAW56738;NP_001277243;NP_057620;Q7Z3V5;XP_005259034;XP_005259036;XP_006723302 Hs.590944 2108649;2110829;2141161;5108186 G34327;RH12326;ZBTB16_8745;ZNF571__4886 FLJ16374;HSPC059;MGC138690 protein-coding ENSG00000180479 HGNC:25000 15850 VALIDATED 1312810 ZNF575 zinc finger protein 575 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (R)-pantothenic acid; aflatoxin B1; copper(2+) sulfate 19 19 19 q13.31 40839973 40842923 + 44037244 44040290 + 43532859 43536138 + 737633;1580863;6480464 12477932 14702039;15489334;19773279 284346 B3KQ07;M0R087;Q86XF7 ABBA01040862;AC018758;AK057129;AK301820;AMYH02036166;BC043611;CH471126;NM_174945;XM_005258783;XM_006723155 AAH43611;BAG51869;BAG63266;EAW57198;EAW57199;EAW57200;NP_777605;Q86XF7;XP_005258840;XP_006723218 Hs.213534 FLJ32567 protein-coding HGNC:27606 15854 VALIDATED 1350499 ZNF573 zinc finger protein 573 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; atrazine; benzo[a]pyrene 19 19 19 q13.12 35029744 35070573 - 38229203 38270230 - 37738302 37779590 - 737633;1580863;6480464;8554872 12477932 14702039;15342556;15489334;16344560;19322201;22505724 126231 K7EL03;K7EM14;K7EM47;K7EQQ2;K7ERS7;Q86YE8 ABBA01040637;ABBA01040638;AC016582;AC093227;AK055483;AK074539;AMYH02036046;AMYH02036047;AMYH02036048;BC015418;BC029468;BC042170;BC051263;BC064962;BG572864;BP274132;CH471126;DA778380;DB121870;KF510455;NM_001172689;NM_001172690;NM_001172691;NM_001172692;NM_152360 AAH15418;AAH29468;AAH42170;AAH51263;AAH64962;ABZ92095;BAB70929;BAC11047;EAW56751;EAW56752;EAW56753;NP_001166160;NP_001166161;NP_001166162;NP_001166163;NP_689573;Q86YE8 Hs.531262 1721547;2168085;5014039 D22S1584;G59778;WIAF-2206 FLJ30921 protein-coding ENSG00000189144 HGNC:26420 15852 VALIDATED 1322875 ZNF574 zinc finger protein 574 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; potassium chromate; zinc atom 19 19 19 q13.2 39379908 39385337 + 42579057 42585719 + 42076138 42081567 + 737633;6480464;8554872 12477932 14702039;15489334;16344560;16964243;21832049;21890473;22505724;24778252;8125298 64763 M0R133;Q6ZN55;Q71MF7 ABBA01040835;ABBA01040836;AC022515;AF447880;AK025712;AK027895;AK074788;AK131369;AK131418;AK225342;AL137516;AMYH02036140;BC001184;BC071962;CH471126;DA404303;NM_022752;XM_005259159 AAH01184;AAH71962;AAQ04655;BAB15225;BAC11210;BAD18520;BAD18565;CAB70782;EAW57093;NP_073589;Q6ZN55;XP_005259216 Hs.13323 1665723;2171173 RH11929;SHGC-32127 FLJ22059;FP972 protein-coding ENSG00000105732 HGNC:26166 15853 VALIDATED 1353037 ZNF576 zinc finger protein 576 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH copper(2+) sulfate; diazinon; lead(0) 19 19 19 q13.31 40903025 40907068 + 44100544 44104587 + 43596392 43600435 + 737633;6480464;8554872 12477932 14702039;15342556;15489334;17081983;21988832;24250222 79177 Q9H609 ABBA01040863;AC006276;AK026353;AMYH02036168;BC002981;BP358040;CH471126;CS072412;NM_001145347;NM_024327 AAH02981;ABZ92055;ADZ15680;BAB15458;CAI93550;EAW57206;EAW57207;EAW57208;NP_001138819;NP_077303;Q9H609 Hs.11110 1677903;1774713;1776381;2125608 D19S1120;RH78438;RH91515;STS-W88767 FLJ22700;FLJ56397;MGC2508 OTTHUMP00000229927;OTTHUMP00000229929;OTTHUMP00000229930;OTTHUMP00000229931;OTTHUMP00000229932 protein-coding HGNC:28357 15855 VALIDATED 1350365 ZNF577 zinc finger protein 577 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsenite(3-); cyclosporin A; aldehydo-D-glucose (ortholog) 19 19 19 q13.41 49408614 49440795 - 52359056 52391229 - 51855803 51887992 - 737633;1580863;6480464;8554872 12477932 14702039;15489334;16344560;21424380;23503679 84765 C9JEI3;C9JP99;C9JUV0;C9JX31;K7EPC1;K7EPX3;Q9BSK1 ABBA01068262;AC006272;AC011460;AC074141;AK056853;AK093036;AK289479;AK291812;AL832871;AMYH02036393;BC004992;BC030610;BC035367;BU949047;CH471135;DA874803;DB445447;DB457499;HG510982;NM_001135590;NM_032679;NR_024181;XM_006723432;XM_006723433;XM_006723434;XR_244009;XR_248588;XR_253902 AAH04992;ABZ92072;BAF82168;BAF84501;EAW72046;EAW72047;EAW72048;EAW72049;NP_001129062;NP_116068;Q9BSK1;XP_006723495;XP_006723496;XP_006723497 Hs.723015;Hs.729135 1686384;1696130;1696908;1732151;1789138;2218688 D19S468E;G65705;RH101921;RH79636;SHGC-79067;ZNF577__4889 AC006272.1;FLJ32291;MGC4400 OTTHUMP00000211376;OTTHUMP00000211377;OTTHUMP00000211378;OTTHUMP00000211379;OTTHUMP00000211380 protein-coding ENSG00000161551 HGNC:28673 15856 VALIDATED 1318265 ZNF579 zinc finger protein 579 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; arsane; arsenic atom 19 19 19 q13.42 53130028 53133351 - 56088891 56092211 - 55577525 55580845 - 1580863;6480464 14702039;15146197;15302935;16964243;21900206;22190034;24024966;24163370 163033 K7EJF4;Q8NAF0 ABBA01020864;AC008735;AK092772;AMYH02036472;AW003562;BC042926;CH471135;CN340494;CQ859782;CQ859784;CX781546;NM_152600 BAC03972;CAH25941;CAH25942;EAW72390;NP_689813;Q8NAF0 Hs.112529 1686070 RH94058 FLJ35453 protein-coding HGNC:26646 11730 VALIDATED 1343314 ZNF581 zinc finger protein 581 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene; hydrogen peroxide; quercetin 19 19 19 q13.42 53197262 53199265 + 56154986 56156989 + 55643620 55645623 + 737633;1580863;6480464 12477932 11042152;15489334;16189514;21832049;23455924 51545 K7EM32;Q9P0T4 ABBA01020862;AC008735;AF151023;AK026203;AK315603;AMYH02036473;BC001219;BC010097;BC071620;BC071845;CH471135;NM_016535;XM_006723240 AAF36109;AAH01219;AAH10097;AAH71620;AAH71845;ABM84519;ABM85847;BAG37973;EAW72400;NP_057619;Q9P0T4;XP_006723303 Hs.20768 1683775;2110095;2175952 RH93235;WI-11712;ZNF581_9736 FLJ22550;HSPC189 protein-coding ENSG00000171425 HGNC:25017 15858 VALIDATED 1346407 ZNF578 zinc finger protein 578 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN cytoplasm (inferred); intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); aflatoxin B1 (ortholog) 19 19 19 q13.41 50006763 50070083 + 52956829 53020131 + 52453553 52516878 + 1580863;6480464;8554872 12477932;14702039;21890473;22505724;23000965 147660 M0QZV4;Q1T7F1;Q3MI94;Q96N58 AB091373;AB091374;AB091375;AB091376;ABBA01068250;ABBA01068251;ABBA01068252;ABBA01068253;ABBA01068254;AC010332;AC010506;AC022150;AK055946;AK095562;AK299106;AMYH02036401;AMYH02036402;AMYH02036403;BC103904;BC115704;BX955279;NM_001099694;XM_005258527;XM_006723019;XM_006723020;XM_006723021 AAI03905;AAI15705;BAB71051;BAC04574;BAE93189;BAE93190;BAE93191;BAE93192;BAG61163;NP_001093164;Q1T7F1;Q96N58;XP_005258584;XP_006723082;XP_006723083;XP_006723084 Hs.157287 1690594;2173852;5014019;5020635;5024039;5492643;5493073 D16S325;D19S651E;D5S2354;D7S3207;RH39501;UniSTS:481881;UniSTS:484132 FLJ31384 protein-coding ENSG00000258405 HGNC:26449 15857 VALIDATED 6893114 ZNF582-AS1 ZNF582 antisense RNA 1 (head to head) 19 19 19 q13.43 53948020 53953512 + 56905045 56910544 + 56393676 56399175 + 12477932 386758 ABBA01020836;AC006116;AMYH02036492;AW160702;BC024249;BC036928;BC040939;HG511060;HG511061;HG511062;NR_037159;NR_037160;NR_037161 Hs.549564 2160502 D15S1168 AC006116.25 ncrna ENSG00000267454 HGNC:25213 VALIDATED 1353424 ZNF582 zinc finger protein 582 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 5-fluorouracil; 5-formyltetrahydrofolic acid; arsenite(3-) 19 19 19 q13.43 53937627 53947864 - 56886595 56904970 - 56375178 56393586 - 737633;1580863;6480464 12477932 14702039;15489334;22815913;24250222 147948 K7EKI7;K7ESE7;Q96NG8 ABBA01020836;AC006116;AK055489;AK299036;AK316028;AMYH02036492;BC011796;BC056238;BC101008;BC101009;BC101010;BC101011;CH471135;NM_144690;XM_006723044;XR_430188;XR_430189 AAH11796;AAI01009;AAI01010;AAI01011;AAI01012;ABZ92108;BAB70931;BAG61111;BAH14399;EAW72445;EAW72446;EAW72447;EAW72448;NP_653291;Q96NG8;XP_006723107 Hs.244391 2117981 D19S1124 FLJ30927 protein-coding ENSG00000018869 HGNC:26421 15859 615600 PROVISIONAL 1350167 ZNF583 zinc finger protein 583 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; arsenite(3-); atrazine 19 19 19 q13.43 53958359 53979398 + 56915383 56936400 + 56404014 56425031 + 1580863;6480464 12477932;14702039;15342556;15489334;16344560;24250222 147949 F5GZQ5;I3L0C4;Q96ND8 ABBA01020836;AC006116;AF024698;AK055592;AL833236;AMYH02036492;AMYH02036493;BC111772;BP247825;CH471135;DA407197;DA785623;DA942855;NM_001159860;NM_001159861;NM_152478;XM_005258558;XM_005258559 AAB81088;AAI11773;ABZ92109;BAB70964;EAW72452;NP_001153332;NP_001153333;NP_689691;Q96ND8;XP_005258615;XP_005258616 Hs.146854;Hs.745489 2181791;5016478;5022200;5022578;5037552 D1S1423;D8S2279;G18065;GDB:434012;L18426 FLJ31030;MGC133237 OTTHUMP00000239666;OTTHUMP00000239667;OTTHUMP00000239668;OTTHUMP00000239669;zinc finger protein L3-5 protein-coding ENSG00000198440 HGNC:26427 15860 VALIDATED 1348200 ZNF584 zinc finger protein 584 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH amiodarone; methyl methanesulfonate 19 19 19 q13.43 55964056 55973692 + 58919245 58929694 + 58407359 58418327 + 737633;1580863;6480464 12477932 14702039;15489334;20211142 201514 F6W0P0;M0QZA3;M0R0A3;M0R2W6;M0R3F5;Q8IVC4 ABBA01020767;ABBA01020768;AC012313;AK097218;AK290068;AK298929;AMYH02036535;AMYH02036536;BC017651;BC033149;CH471135;NM_173548;XM_005258628;XM_005258630;XM_005258631 AAH17651;AAH33149;ABZ92122;BAF82757;BAG61033;EAW72587;EAW72588;EAW72589;NP_775819;Q8IVC4;XP_005258685;XP_005258687;XP_005258688 Hs.439551 2144579;5015861;5022425;5022578;5022651;5110221;7185938 5175ht;D10S16;D11S2921;D1S1423;D22S296;WI-17511 FLJ39899 protein-coding ENSG00000171574 HGNC:27318 15861 PROVISIONAL 1348673 ZNF586 zinc finger protein 586 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; elemental selenium; selenium atom 19 19 19 q13.43 55324549 55335505 + 58281020 58291984 + 57769652 57780616 + 737633;1580863;6480464 12477932 14702039;15342556;16344560;21890473 54807 M0QZ99;M0R166;M0R336;Q9NXT0 AB074270;ABBA01020801;AC003006;AI962754;AK000077;AK095993;AK300419;AK302151;AMYH02036520;BC027922;BC041660;BC051325;BC124558;BP352135;CH471135;DA904413;NM_001077426;NM_001204814;NM_017652 AAH27922;AAI24559;BAA90930;BAG53191;BAG62148;BAG63522;EAW72533;EAW72534;NP_001070894;NP_001191743;NP_060122;Q9NXT0 Hs.625133 FLJ20070 protein-coding ENSG00000083828 HGNC:25949 15863 VALIDATED 1353931 ZNF585B zinc finger protein 585B ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH fonofos; parathion; terbufos 19 19 19 q13.12 34456719 34485700 - 37672481 37701632 - 37181579 37210549 - 737633;6480464;8554872 12477932 14702039;15489334;16169070;20562864;22939629;23251661 92285 B3KRH5;E9PNT4;E9PQ00;E9PQH3;F2Z3L4;K7EL12;K7EP93;K7EPG8;Q52M93 ABBA01016185;ABBA01016186;AC012309;AK027834;AK090574;AK091586;AK094989;AMYH02036031;AY147015;BC029737;BC051277;BC067088;BC080550;BC093625;BX440867;NM_152279 AAH93625;AAN61169;ABZ92085;BAB55400;BAG52387;BAG52967;NP_689492;Q52M93 Hs.390568 1647416;1847920;2125882;2128915;5015861;5022450;5022651;7185938 D10S16;D10S275;D11S2921;RH17555;RH36079;SGC34287;SHGC-34082 FLJ14928;FLJ33255;SZFP41 OTTHUMP00000232117;OTTHUMP00000232118;zinc finger protein 41-like protein protein-coding ENSG00000245680 HGNC:30948 18354 VALIDATED 1604726 ZNF585A zinc finger protein 585A ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2-methylcholine; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.12 34425229 34447853 - 37638340 37663643 - 37147438 37172741 - 6480464;8554872 12477932;14702039;15489334;16344560;20562864 199704 K7EJK4;K7ELR3;K7EN80;Q6P3V2 ABBA01016186;AC012309;AF086428;AK056389;AK074345;AK123296;AK290660;AMYH02036031;AW015367;BC026081;BC039557;BC052956;BC063820;BG771823;CA446889;DA738522;DA990390;DB454691;NM_001288800;NM_152655;NM_199126;NR_110152 AAH63820;BAB71174;BAB85057;BAF83349;NP_001275729;NP_689868;NP_954577;Q6P3V2 Hs.659236;Hs.729172 1697542 RH102277 FLJ23765;FLJ25829;FLJ31827 protein-coding ENSG00000196967 HGNC:26305 15862 VALIDATED 6480280 ZNF587B zinc finger protein 587B ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH valproic acid; pirinixic acid (ortholog); titanium dioxide (ortholog) 19 19 19 55385069 55397432 + 58341427 58357606 + 57830294 57846238 + 6480464 10520746;14702039;15231748;16344560 100293516 E7ETH6;M0QY62;M0R1N2 ABBA01020798;AC010522;AC010645;AK299091;AMYH02036522;CA427231;DB065500;NM_001204818;U71363 AAB16809;BAG61153;E7ETH6;NP_001191747 Hs.658251;Hs.744891 1652194;1688384;1696292;1748481;1851089 RH35863;RH68934;RH77994;SHGC-32807;SHGC-83786 FLJ16599;FLJ52732;FLJ52828 zinc finger protein protein-coding ENSG00000269343 HGNC:37142 VALIDATED 5144720 ZNF587P1 zinc finger protein 587 pseudogene 1 3 3 3 31772579 31774271 + 31835971 31837664 + 31794479 31796172 + 100419751 ABBA01024952;AC092024;AC107620;AMYH02006486;NG_025682 1714987 RH120830 pseudo HGNC:42438 INFERRED 1348055 ZNF59 zinc finger protein 59 7550 HGNC:13127 1346702 ZNF587 zinc finger protein 587 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 3-methylcholanthrene; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 19 19 19 q13.43 55404757 55419973 + 58331011 58379953 + 57849813 57865123 + 1580863;6480464 10520746;12477932;14702039;15231748;15489334;16344560;17474147;18854154 84914 E7EP41;Q96SQ5 AA524202;ABBA01020798;AC010326;AC010522;AC010645;AF294842;AK000820;AK026676;AK027616;AK160374;AMYH02036522;BC011243;BC011810;BC017219;BC126237;BC126239;BC144112;BC144113;CH471135;DA334859;NM_001204817;NM_032828 AAI26238;AAI26240;AAK58839;BAA91388;BAB15523;BAB55235;BAD18717;EAW72537;EAW72538;NP_001191746;NP_116217;Q96SQ5 Hs.642598;Hs.744891 1701524;2121180;5015861;5016478;5016596;5017266;5020740;5022463;5022578;5022651;5024413;5037552;5109663;7185938 D10S16;D11S2921;D1S1423;D3S1673;D7S2067E;D8S2279;GDB:434012;GDB:631802;L17809;L17877;L18506;RH104395;STS-N33228 FLJ14710;FLJ20813;FLJ52732;ZF6 OTTHUMP00000206924;OTTHUMP00000206925;zinc finger protein zfp6 protein-coding ENSG00000198466 HGNC:30955 15864 VALIDATED 1353484 ZNF589 zinc finger protein 589 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN nucleus; INTERACTS WITH all-trans-retinoic acid; benzo[a]pyrene; copper(2+) sulfate 3 3 3 p21 48233162 48263045 + 48282596 48312480 + 48241106 48270990 + 1580863;6480464 10029171;12477932;18029348 51385 B4DQF9;C9J1J1;C9JGA6;F8VZ09;Q86UQ0 AB209387;ABBA01024652;ABBA01024653;AC104190;AF114816;AF114817;AK298782;AL832831;AMYH02006714;AMYH02006715;AY258146;BC005859;BC006247;BC008213;BC028160;BC048798;BC062690;CH471055;NM_016089 AAD38879;AAD38880;AAH05859;AAH06247;AAH08213;AAH48798;AAI66625;AAP14679;BAD92624;BAG60921;CAI46129;EAW64855;EAW64856;EAW64857;EAW64858;EAW64859;EAW64860;NP_057173;Q86UQ0 Hs.172602 2116602;2163796 SHGC-33980;SHGC-76947 SZF1 KRAB-zinc finger protein SZF1-1;OTTHUMP00000210748;OTTHUMP00000210749;OTTHUMP00000210750;OTTHUMP00000210751;OTTHUMP00000210752;stem cell zinc finger protein 1 protein-coding ENSG00000164048 HGNC:16747 15865 VALIDATED 1320928 ZNF593 zinc finger protein 593 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); transcription corepressor activity (inferred); INVOLVED IN negative regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH (+)-catechin; benzo[a]pyrene; cyclosporin A 1 1 1 p36.11 24892757 24893733 + 26496388 26497364 + 26169897 26170873 + 737633;1580863;6480464 12477932 12429849;15489334;16169070;16344560;18287285;20211142;21900206;21906983;21988832;22939629;23045392;9115366 51042 A9J4F5;O00488 ABBA01034899;AI083892;AK311926;AL391650;AMYH02000555;BC002580;BC019267;CH471059;D45213;DA124660;NM_015871 AAH02580;AAH19267;ABZ92327;BAA20369;BAG34867;EAX07843;NP_056955;O00488 Hs.477273 1691102;2146164;2165278 RH80379;SHGC-74436;WI-20819 ZT86 OTTHUMP00000008764;zinc finger protein T86 protein-coding HGNC:30943 15866 VALIDATED 1318632 ZNF592 zinc finger protein 592 This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011] 15 15 15 q25.3 61717985 61775836 + 85291818 85349663 + 84748587 84806432 + 1580863;6480464;7240710;8554872;8699517 11391656;12030328;12477932;14702039;15231748;15302935;15489334;17000644;17081983;20038795;20133760;20360844;20531441;22005931;22939629;23752268;24816145;9039502 9640 H0YM74;Q92610 AA835974;ABBA01052948;AC012291;AK090507;AMYH02030956;AMYH02030957;AMYH02030958;BC040038;BC094688;BC112232;BC112234;BC143600;BG757479;BQ217254;CH471101;D86966;KF456111;NG_028094;NM_014630;XM_005254996 AAH94688;AAI12233;AAI12235;BAA13202;EAX01957;EAX01958;EAX01959;NP_055445;Q92610;XP_005255053 Hs.79347 1660443;1675307;1699912;1721577;2191357 G59798;MARC_17853-17854:1025010913:1;RH103564;RH48457;WI-14719 KIAA0211;MGC138437;MGC138439;SCAR5 CAMOS APPROVED protein-coding ENSG00000166716 HGNC:28986 10339 606937;613624 REVIEWED 1343049 ZNF594 zinc finger protein 594 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; quercetin; trichostatin A 17 17 17 p13 5100476 5112825 - 5082830 5095178 - 5179535 5191883 - 1580863;6480464;8554872 11181995;11347906;12477932;16169070;16344560;18854154;22505724;7865130 84622 I3L508;Q6ZNC6;Q96JF6 AB058774;ABBA01054796;AC012146;AC087500;AK131271;AL833185;AMYH02032844;AY500358;BC136604;BX472376;CH471108;DA448705;NM_032530;XM_005256827 AAI36605;AAS55108;BAB47500;BAD18449;EAW90352;EAW90353;NP_115919;Q96JF6;XP_005256884 Hs.658402 1678105;2176585;5015619 D11S3114;RH46904;WI-22615 DKFZp667J055 OTTHUMP00000162939;zinc finger protein HZF18 protein-coding ENSG00000180626 HGNC:29392 VALIDATED 1315767 ZNF580 zinc finger protein 580 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN cellular response to hydrogen peroxide; positive regulation of endothelial cell migration; positive regulation of endothelial cell proliferation; FOUND IN nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; cobalt dichloride; elemental selenium 19 19 19 q13.42 53194671 53197112 + 56146361 56154836 + 55634995 55643470 + 6480464 12477932;15489334;16189514;16341674;17207965;20211142;20382120;21310414;21599657;21830064;21900206;8889548 51157 K7EJ53;K7ENY2;K7ERU0;Q9UK33 ABBA01020862;AC008735;AF184939;AK123294;AK314888;AL359054;AMYH02036473;BC017698;BM700178;BM710177;BM793208;BQ477323;BU179609;CH471135;NM_001163423;NM_016202;NM_207115;XM_005258967;XM_005258968;XM_006723236 AAD56549;AAH17698;ADQ31690;BAG37402;CAB94389;EAW72399;NP_001156895;NP_057286;NP_996998;Q9UK33;XP_005259024;XP_005259025;XP_006723299 Hs.631551 1683775 RH93235 LDL induced EC protein;LDL-induced EC protein protein-coding ENSG00000213015 HGNC:29473 18353 VALIDATED 1352410 ZNF595 zinc finger protein 595 This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular processes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013] 4 4 4 p16.3 205 28985 + 53227 88099 + 53285 88211 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;16344560;20195357;2114117;22505724;22803940 152687 B4DU56;B4DX79;E9PN20;Q7Z3I0;Q8IYB9 ABBA01019322;AC253576;AK056302;AK300505;AK301848;AK309855;AK311343;AMYH02008544;AMYH02008545;BC009008;BC036110;BC043151;BX537887;CH471131;DA746784;DA888845;NG_033822;NM_001286052;NM_001286053;NM_001286054;NM_182524 AAH36110;AAH43151;ACE86668;ACE87352;ADZ15348;BAG51673;BAG62218;BAG63291;CAD97883;EAW82675;NP_001272981;NP_001272982;NP_001272983;NP_872330;Q8IYB9 Hs.709469 1706390;2153726;2175869;5014051;5022200;5022450;5024761;5037552 D10S275;D4S3358;D8S2278;D8S2279;L18426;RH36905;SHGC-67276;SHGC-80766 FLJ31740 OTTHUMP00000231883 protein-coding ENSG00000272602 HGNC:27196 15868 REVIEWED 1349599 ZNF60 zinc finger protein 60 1505991 7611 HGNC:13129 1353829 ZNF596 zinc finger protein 596 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; formaldehyde 8 8 8 p23.3 152397 167535 + 182200 197339 + 232137 247340 + 737633;1580863;6480464 12477932 14702039;15489334;16344560;16421571;21988832 169270 E5RHT8;E5RIL8;E5RIV8;E5RJH7;Q8TC21;V9GYI9;V9GYV6 ABBA01007272;ABBA01007273;AC004908;AK313454;AMYH02017213;BC026190;BG771504;BM478564;CH471181;CR747438;DA504426;DA685143;DA714658;DB031878;DB034950;DB047692;DB053699;DB055646;DB514599;DN995476;DR006332;HY039816;NM_001042415;NM_001042416;NM_001287254;NM_001287255;NM_001287256;NM_001287399;NM_173539;XM_006716236 AAD05197;AAH26190;BAG36241;EAW51447;NP_001035880;NP_001035881;NP_001274183;NP_001274184;NP_001274185;NP_001274328;NP_775810;Q8TC21;XP_006716299 Hs.591388 1689594 RH40619 FLJ36123 OTTHUMP00000109535;OTTHUMP00000225360;OTTHUMP00000225362 protein-coding ENSG00000172748 HGNC:27268 11731 VALIDATED 1351139 ZNF597 zinc finger protein 597 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; cisplatin 16 16 16 p13.3 3692878 3700261 - 3486110 3493490 - 3436110 3443490 - 737633;1580863;6480464 12477932 14702039;15489334;18029348;20211142;22505724 146434 Q96LX8 ABBA01026740;AC025283;AK057633;AMYH02031290;BC029899;CH471112;NM_152457 AAH29899;ABZ92104;BAB71538;EAW85367;NP_689670;Q96LX8 Hs.88630 1680871;1851185;2121664 RH68092;RH69449;RH93596 FLJ33071 OTTHUMP00000159721 protein-coding HGNC:26573 15869 614685 PROVISIONAL 1603572 ZNF599 zinc finger protein 599 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH valproic acid; 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.11 31961373 31976528 - 35248979 35264134 - 34758074 34773229 - 6480464;8554872 12477932;14702039;15489334;21890473;22505724;23000965 148103 K7EJP3;Q96NL3 ABBA01018726;AC020910;AK055225;AK302548;AK307339;AMYH02035967;BC033354;BC044615;BC092428;NM_001007248;XM_005258562 AAH44615;AAH92428;ABZ92110;BAB70879;BAH13738;NP_001007249;Q96NL3;XP_005258619 Hs.590961 1678791;1698810;5015881 GDB:335751;RH102968;RH81033 FLJ50920 protein-coding ENSG00000153896 HGNC:26408 18355 VALIDATED 1312605 ZNF598 zinc finger protein 598 Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thought to function as a translation repressor in embryonic development. [provided by RefSeq, Oct 2012] 16 16 16 p13.3 2259947 2271940 - 2047653 2059822 - 1997652 2009821 - 737633;6480464 12477932 14702039;15489334;15592455;16094384;16169070;20531386;21139048;21890473;21987572;22118674;22505724;22751931;22939629;22944692;23000965;24332808;24550385;24816145;25027693 90850 H3BPF3;H3BQQ2;H3BR87;Q86UK7 ABBA01030283;AC005606;AK024487;AL834428;AMYH02031241;BC010990;BC029270;BC041015;BC050477;CA309611;CH471112;KF459688;NG_032989;NM_178167 AAH10990;AAH41015;AAH50477;BAB15777;CAD39089;EAW85569;EAW85570;EAW85571;EAW85572;EAW85573;EAW85574;EAW85575;NP_835461;Q86UK7 Hs.343828 1694648;1694872 G43500;G44316 DKFZp762F135;FLJ00086 protein-coding ENSG00000167962 HGNC:28079 11732 REVIEWED 1343964 ZNF600 zinc finger protein 600 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; arsenous acid; diarsenic trioxide 19 19 19 q13.41 50318151 50339447 - 53268747 53290034 - 52765494 52833622 - 1580863;6480464;8554872 12576331;14702039;20936779;21890473;22359512;22505724;23000965 162966 Q6ZNG1;Q8N692 ABBA01068239;ABBA01068240;AC008813;AK075230;AK131231;AMYH02036407;BX640933;CH471135;KF456606;NM_198457;U52096;XM_005258576;XM_006723054;XM_006723055;XM_006723056;XM_006723057;XM_006723058 AAA97912;BAD18414;CAE45968;EAW72095;EAW72096;NP_940859;Q6ZNG1;XP_005258633;XP_006723117;XP_006723118;XP_006723119;XP_006723120;XP_006723121 Hs.696848 5038480;5097027 RH120970;RH70673 DKFZp686F06123;KR-ZNF1 zinc finger protein KR-ZNF1 protein-coding HGNC:30951 11733 VALIDATED 1346158 ZNF601P zinc finger protein 601, pseudogene 6 6 p21 28064889 28065147 - 28097111 28097369 - 493824 ABBA01038015;AL121944;AMYH02013391;NG_029789 D6S2711;KIAA0036;PRD51p;dJ313I6.8 APPROVED pseudo HGNC:29407 INFERRED 1349597 ZNF602P zinc finger protein 602, pseudogene 6 6 6 p21 29689488 29690059 + 28083427 28083998 + 28115649 28116220 + 100419608;493820 ABBA01038015;AL358933;AMYH02013391;NG_025918 dJ265C24.5 APPROVED pseudo HGNC:23313 INFERRED 1346602 ZNF603P zinc finger protein 603, pseudogene 6 6 p21 28143966 28144452 + 28176188 28176674 + 493821 ABBA01038015;AL022393;AMYH02013391;NG_032184 p373c6.7 APPROVED pseudo HGNC:23322 INFERRED 1344825 ZNF604P zinc finger protein 604 pseudogene 493817 HGNC:19999 1353121 ZNF605 zinc finger protein 605 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine; atrazine 12 12 12 q24.33 133198265 133233123 - 133498019 133532908 - 132921433 132956306 - 6480464;8554872 11181995;12477932;14702039;17974005 100289635 Q86T29;Q8WW51 ABBA01042535;ABBA01042536;ABBA01042537;AC073911;AC127070;AK027873;AK122878;AL832191;AL832623;AMYH02027596;AMYH02027597;BC020877;BF476024;CH471218;NM_001164715;NM_183238 AAH20877;BAG53776;CAD89946;CAD91163;EAW54805;EAW54806;EAW54807;NP_001158187;NP_899061;Q86T29 Hs.29698 1653401;1746389;2156742;2162597;2168548 A006R19;D12S1205E;G64709;RH44654;SGC34278 DKFZp451B1818;DKFZp686B222;FLJ14967;FLJ16520 OTTHUMP00000237378;OTTHUMP00000237379 protein-coding ENSG00000196458 HGNC:28068 VALIDATED 1343824 ZNF607 zinc finger protein 607 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH cobalt dichloride; copper(2+) sulfate; dioxygen 19 19 19 q13.1 34987799 35011231 - 38187264 38210691 - 37696363 37719790 - 737633;6480464 12477932 14702039;15489334;16189514;19851296;20198315 84775 K7ELX6;K7ELZ2;K7EN48;K7ESQ1;Q96SK3 AB209242;ABBA01040633;ABBA01040634;ABBA01040635;AC093227;AK027708;AK127464;AK131557;AK131559;AMYH02036046;BC005085;BC014850;CH471126;NM_001172677;NM_032689;XM_006723435;XM_006723436;XM_006723437;XM_006723438;XM_006723439;XM_006723440;XM_006723441 AAH05085;AAH14850;BAB55313;BAD18691;BAD18693;BAD92479;EAW56748;EAW56749;EAW56750;NP_001166148;NP_116078;Q96SK3;XP_006723498;XP_006723499;XP_006723500;XP_006723501;XP_006723502;XP_006723503;XP_006723504 Hs.116622 FLJ14802;MGC13071 protein-coding ENSG00000198182 HGNC:28192 18356 VALIDATED 1320347 ZNF606 zinc finger protein 606 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; arsenite(3-) 19 19 19 q13.4 55531922 55558196 - 58488440 58514714 - 57977072 58003346 - 737633;1580863;6480464 12477932 11347906;14702039;15489334;15964554;18029348;22505724;22939629;8889549 80095 F8VVX5;F8VZC9;F8VZG6;F8W1C8;F8W1H2;Q8WXB4;Q9H7U2 AA033715;AB058755;ABBA01020788;ABBA01020789;AC008969;AC010326;AF455357;AK024322;AK056696;AK293097;AK294037;AMYH02036524;AMYH02036525;BC022533;BC036570;BC037209;CH471135;NM_025027;XM_005259276;XM_005259277 AAH37209;AAL58442;ADZ15501;BAB14883;BAB47481;BAF85786;BAG57389;EAW72546;EAW72547;EAW72548;NP_079303;Q8WXB4;XP_005259333;XP_005259334 Hs.654967 1652789;1676474;1689841;2177708 RH91797;RH98955;SHGC-53148;STS-T97475 FLJ14260;KIAA1852;ZNF328 OTTHUMP00000242141;OTTHUMP00000242143;zinc finger protein 328 protein-coding ENSG00000166704 HGNC:25879 15871 613905 VALIDATED 1354121 ZNF610 zinc finger protein 610 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; trichostatin A; valproic acid 19 19 19 q13.41 49889106 49919972 + 52839498 52870376 + 52336245 52367123 + 737633;1580863;6480464 12477932 14702039;15489334;16344560;21890473;22505724;24250222 162963 M0QYM6;Q8N9Z0 ABBA01068257;AC010320;AK093359;AK290888;AL831871;AMYH02036399;AMYH02036400;BC039903;BC105967;CH471135;DA133752;DB577508;NM_001161425;NM_001161426;NM_001161427;NM_173530 AAH39903;AAI05968;ABZ92115;BAC04144;BAF83577;CAD38559;EAW72073;EAW72074;EAW72075;NP_001154897;NP_001154898;NP_001154899;NP_775801;Q8N9Z0 Hs.147025 5037552 D8S2279 DKFZp547A1010;FLJ36040;MGC102679 zink finger protein protein-coding ENSG00000167554 HGNC:26687 11735 VALIDATED 1346771 ZNF613 zinc finger protein 613 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; aflatoxin B1 (ortholog); ammonium chloride (ortholog) 19 19 19 q13.41 49480254 49498577 + 52430688 52449011 + 51927435 51945758 + 737633;6480464 12477932 14702039;15489334 79898 M0QX19;M0R2C1;Q6PF04 ABBA01068262;AC011460;AK023652;AK027565;AMYH02036394;BC057776;CA427456;CH471135;NM_001031721;NM_024840;XM_005259269 AAH57776;BAB55201;EAW72052;EAW72053;EAW72054;EAW72055;NP_001026891;NP_079116;Q6PF04;XP_005259326 Hs.183390 1682581;1725161;2110831;5022651 D11S2921;RH118883;RH92372;ZNF613__4711 FLJ13590 protein-coding ENSG00000176024 HGNC:25827 15873 VALIDATED 1349333 ZNF609 zinc finger protein 609 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; benzo[a]pyrene 15 15 15 q22.31 41669287 41855885 + 64791619 64978267 + 64499420 64686068 + 737633;1580863;6480464;8554872 12477932 15489334;16341674;16572171;16713569;17081983;20360068;23000965;23667531;23752268;24816145;25015289;9205841 23060 E7ERY8;O15014 AB002293;ABBA01038876;ABBA01038877;ABBA01038878;ABBA01038879;ABBA01038880;ABBA01038881;ABBA01038882;ABBA01038883;ABBA01038884;AC090543;AC091231;AMYH02030609;AMYH02030610;AMYH02030611;AMYH02030612;AMYH02030613;AW956219;BC000648;BC009226;BC014251;BC029441;BC050315;BC084543;BC110401;BC142647;BM791986;CH471082;NM_015042 AAI10402;AAI42648;BAA20755;EAW77686;EAW77687;EAW77688;NP_055857;O15014 Hs.595451;Hs.696256 1683994;1773850;1787836;1848886;2137022;5024545;5111335 A006R24;D1S3695;FB5E9;RH44856;RH66579;SHGC-132603;SHGC-36468 KIAA0295;MGC164858 protein-coding ENSG00000180357 HGNC:29003 18754 PROVISIONAL 1349101 ZNF617 zinc finger protein 617 404666 HGNC:31398 1342737 ZNF614 zinc finger protein 614 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene 19 19 19 q13.41 49566135 49581238 - 52516577 52531680 - 52013324 52028427 - 737633;1580863;6480464;8554872 12477932 14702039;15489334;16344560;24280104;24457600 80110 M0QYG4;M0R1H2;Q8N883 ABBA01068262;AC011468;AK023547;AK025594;AK097156;AK309346;AMYH02036394;BC004930;BC022246;BC101392;BC101393;BC101394;BC101395;BG179764;BG286230;BG436055;BG493979;BG687087;BI913696;BM129588;BQ025846;BU154861;CH471135;DA940231;DC368937;NM_025040 AAH04930;AAH22246;AAI01393;AAI01394;AAI01395;AAI01396;BAB15184;BAC04966;EAW72058;EAW72061;NP_079316;Q8N883 Hs.292336 1658044 STS-AA027259 FLJ21941;MGC120638 protein-coding ENSG00000142556 HGNC:24722 15874 VALIDATED 1605318 ZNF616 zinc finger protein 616 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; copper(2+) sulfate 19 19 19 q13.41 49667215 49692753 - 52616344 52643191 - 52113091 52139938 - 6480464 12477932;14702039;15489334;22505724 90317 M0QXF0;M0QYU5;M0R0C2;Q08AN1 ABBA01068261;AC011468;AK025434;AK092266;AL832969;AMYH02036396;AMYH02036397;BC032805;BC033199;BC125099;BC125100;CD048470;NM_178523;XM_005259375 AAH33199;AAI25100;AAI25101;BAG52513;CAH56353;NP_848618;Q08AN1;XP_005259432 Hs.645225;Hs.731969 1339293;1676542;1721395;2128713 D3S1514;G59699;RH80131;WIAF-1689 MGC149778;MGC45556 protein-coding ENSG00000204611 HGNC:28062 15876 VALIDATED 1353580 ZNF615 zinc finger protein 615 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH benzene; methyl methanesulfonate; pirinixic acid 19 19 19 q13.41 49544146 49561016 - 52494587 52511494 - 51991334 52008230 - 737633;1580863;6480464;8554872 12477932 14702039;16344560;22505724 284370 H9KV89;M0QZR2;M0QZZ4;M0R0F8;M0R130;Q8N8J6 ABBA01068262;AC011460;AC011468;AK091029;AK094071;AK096691;AK128361;AK131494;AK291734;AK294977;AMYH02036394;BC053884;BC105100;BC105102;BC112961;BC143429;BX647556;BX648594;CR936612;DA095942;DA236166;DA244381;NM_001199324;NM_198480 AAI05101;AAI05103;AAI43430;BAC87399;BAD18638;BAF84423;BAG58048;CAI56755;NP_001186253;NP_940882;Q8N8J6 Hs.368355 1670508;1675816;1722003 G59887;RH65399;SHGC-32428 DKFZp686O1554;FLJ33710;FLJ39372 protein-coding ENSG00000197619 HGNC:24740 15875 VALIDATED 8662578 ZNF619P1 zinc finger protein 619 pseudogene 1 7 7 7 46283095 46284289 + 46184172 46185366 + 46144574 46145768 + 100419776 ABBA01058257;AC023669;AMYH02015646;CH236958;NG_026563 pseudo HGNC:50784 INFERRED 1343654 ZNF619 zinc finger protein 619 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH atrazine; dibutyl phthalate (ortholog); trimellitic anhydride (ortholog) 3 3 3 p22.1 40461460 40491614 + 40518604 40531728 + 40477113 40490237 + 1580863;6480464;8554872 12477932;14702039;8889548 285267 E5RJF3;Q17RW3;Q8N2I2 ABBA01024790;AC121754;AK075245;AK304139;AK304741;AK304793;AMYH02006596;BC117169;BC143304;BC143306;BC143331;BC143332;BM665474;CH471055;CQ783354;DC308744;NM_001145082;NM_001145083;NM_001145093;NR_026746;XM_006713112;XM_006713113 AAI17170;AAI43307;BAC11495;BAG65033;BAG65543;BAH14249;CAF86560;EAW64611;EAW64612;NP_001138554;NP_001138555;NP_001138565;Q8N2I2;XP_006713175;XP_006713176 Hs.407159 2106755;2174935;2187142;5022578 D1S1423;RH65996;RH69815;ZNF619__4715 FLJ90764 OTTHUMP00000209111;OTTHUMP00000225964;OTTHUMP00000225965 protein-coding ENSG00000177873 HGNC:26910 15877 VALIDATED 1606672 ZNF620 zinc finger protein 620 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene; cyclosporin A 3 3 3 p22.1 40490257 40501910 + 40547450 40559712 + 40505959 40518221 + 6480464 12477932;14702039;16344560;16368877;20562864 253639 C9J967;F8WC31;Q6ZNG0 ABBA01024789;AC121754;AK093599;AK131232;AMYH02006596;AMYH02006597;BC044953;BY800121;CH471055;DA172830;DA613081;NM_001256167;NM_001256168;NM_175888;XM_005265011;XM_005265012;XM_005265013 AAI48387;AAI53009;BAC04203;BAD18415;EAW64613;EAW64614;EAW64615;EAW64616;NP_001243096;NP_001243097;NP_787084;Q6ZNG0;XP_005265068;XP_005265069;XP_005265070 Hs.581541 2220072 D6S2868 MGC50836 OTTHUMP00000209106;OTTHUMP00000209109 protein-coding ENSG00000177842 HGNC:28742 15878 VALIDATED 1315658 ZNF608 zinc finger protein 608 ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 5 5 5 q23.2 119928361 120036555 - 123972606 124084517 - 124636913 124748824 - 6480464;8554872 10508479;10574462;12168954;12477932;14702039;15146197;15489334;18029348;20932654;20935630;21890473;22589738;23669352;24465431 57507 A2RRB2;B3KPE6;Q9ULD9 AB033107;ABBA01068924;ABBA01068925;AC112196;AC113398;AF155106;AK056247;AL117587;AMYH02012114;AMYH02012115;AMYH02012116;AMYH02012117;BC038370;BC045828;BC103742;BC131507;BC151226;CH471086;CN406017;CR749624;NM_020747;XM_005272037;XM_005272038;XM_005272039;XM_005272040;XM_006714662;XR_246536 AAD42872;AAH38370;AAI03743;AAI31508;AAI51227;BAA86595;BAG51658;CAB56008;CAH18418;EAW48858;EAW48859;EAW48860;EAW48861;NP_065798;Q9ULD9;XP_005272094;XP_005272095;XP_005272096;XP_005272097;XP_006714725 Hs.266616 1772924;1788950;2140119;2145693 G65550;L28303;RH69760;WI-13632 DKFZp781C0723;MGC166851;NY-REN-36 OTTHUMP00000223018;OTTHUMP00000223019;renal carcinoma antigen NY-REN-36 protein-coding ENSG00000168916 HGNC:29238 18357 VALIDATED 1319325 ZNF622 zinc finger protein 622 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN intrinsic apoptotic signaling pathway in response to oxidative stress; positive regulation of apoptotic process; positive regulation of JNK cascade; FOUND IN cytoplasm; Golgi apparatus; nucleolus; INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; cyclosporin A 5 5 5 p15.1 16475243 16489513 - 16451628 16465894 - 16451519 16465785 - 1580863;6480464 11802789;12477932;12645566;15489334;15635413;18029348;20467438;21139048;21771788;21832049;21890473;21903422;21906983;22863883;22939629;22990118;23747528;24778252;24816145 90441 Q969S3 ABBA01020658;AC020980;AMYH02010919;AY046059;BC008752;BC010545;CH471102;NM_033414 AAH08752;AAH10545;AAL02121;EAX08025;NP_219482;Q969S3 Hs.60300 1644485;1771842;2040010;2165298;2165300;2174420 Bdy22g07;REN91033;RH16190;RH36253;SGC34720;STS-AA009781 MGC17552;MGC2485;ZPR9 OTTHUMP00000115678;zinc finger-like protein 9 protein-coding ENSG00000173545 HGNC:30958 12278 608694 PROVISIONAL 1351809 ZNF611 zinc finger protein 611 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH formaldehyde; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 q13.41 50255299 50287709 - 53206066 53238307 - 52702813 52735054 - 737633;1580863;6480464;8554872 12477932 14702039;16344560;22505724;24250222 81856 M0QXE4;M0QXQ6;M0QYR0;M0QYZ5;M0R1T1;M0R2W3;Q8N823 ABBA01068242;ABBA01068243;ABBA01068244;AC008813;AC022150;AK021787;AK091389;AK097434;AL834123;AMYH02036406;AMYH02036407;BC000918;BC028590;BC071949;BC136343;BC143996;CH471135;DA225124;DA226106;DA245006;DA726181;DB122407;KF456608;NM_001161499;NM_001161500;NM_001161501;NM_030972 AAI36344;BAC05052;BAG52347;CAH10596;EAW72093;EAW72094;NP_001154971;NP_001154972;NP_001154973;NP_112234;Q8N823 Hs.143951 2128923;5037552;5038480;5097027 D8S2279;RH120970;RH48095;RH70673 MGC5384 OTTHUMP00000206930 protein-coding ENSG00000213020 HGNC:28766 15872 VALIDATED 1354066 ZNF621 zinc finger protein 621 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one; formaldehyde; hydralazine 3 3 3 p22.1 40509087 40523759 + 40566376 40581043 + 40524878 40539794 + 6480464 12477932;14702039;15489334;16344560 285268 C9JM43;C9JZC2;Q6ZSS3 ABBA01024789;AC122683;AK074366;AK127181;AMYH02006597;BC101619;BC113415;CH471055;CR749268;DA282973;DB480668;N51540;NM_001098414;NM_001287245;NM_198484;XM_005265079;XM_005265080;XM_006713114 AAI01620;AAI13416;ABZ92159;ADR83177;BAB85061;BAC86873;CAH18124;EAW64617;EAW64619;EAW64620;NP_001091884;NP_001274174;NP_940886;Q6ZSS3;XP_005265136;XP_005265137;XP_006713177 Hs.19977 1648728;1672338;2139479;2145866;5014029;5015961;5022450 D10S275;D13S1639;D15S1477;SHGC-37030;SHGC-76882;STS-AA029050;STS-N33233 DKFZp686B11107;FLJ23786;FLJ45246;MGC126668 OTTHUMP00000162078;OTTHUMP00000209064;OTTHUMP00000209112 protein-coding ENSG00000172888 HGNC:24787 15879 VALIDATED 1345531 ZNF623 zinc finger protein 623 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; coumestrol 8 8 8 q24.3 141028566 141045759 + 144718183 144735900 + 143636013 143653730 + 1580863;6480464 12477932;15489334;16344560;19322201;9734811 9831 O75123 AB014528;ABBA01005245;AC067930;AC105210;AC243411;AK294695;AMYH02018945;AMYH02018946;AW161801;BC067516;BC067517;BC067518;BC075056;BC075057;BC112898;BC112899;BF983220;BX477157;CH471162;DA100931;DA211779;DB161675;DB227885;DB452301;DC355766;DC380463;KF495785;NM_001082480;NM_001261843;NM_014789;XM_006716708;XM_006725095 AAH67516;AAH67517;AAH67518;AAH75056;AAH75057;AAI12900;ABZ92283;BAA31603;BAG57854;EAW82216;NP_001075949;NP_001248772;NP_055604;O75123;XP_006716771;XP_006725158 Hs.43133;Hs.694018;Hs.745418 1777080;5492757 STS-N22293;UniSTS:482336 MGC103965;MGC104128 OTTHUMP00000228811 protein-coding HGNC:29084 18358 VALIDATED 7244081 ZNF625-ZNF20 ZNF625-ZNF20 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 625 (ZNF625) and zinc finger protein 20 (ZNF20) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 19 19 p 12242165 12267546 - 12131350 12156731 - 6480464;8554872 14702039;20967262 100529855 F2Z3I2;F8WDT6 ABBA01029805;ABBA01029806;AC022415;AK096560;AK292455;AMYH02035545;NR_037802 BAF85144 Hs.512823 1773004 D1S3038 ncrna HGNC:48368 VALIDATED 1342948 ZNF624 zinc finger protein 624 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; amiodarone; ethyl methanesulfonate 17 17 17 p11.2 16426947 16460062 - 16524048 16557167 - 16620734 16653853 - 6480464 10718198;12477932;16344560;20453000;22505724;24250222 57547 C9J5H1;J3QKY7;Q9P2J8 AB037770;ABBA01035647;AC005822;AC092714;AC098850;AI913542;AK131401;AMYH02033079;AMYH02033080;AMYH02033081;BC103943;BC103944;BC103945;BC103946;BF435259;CH471222;DA318803;DA808501;NM_020787;XM_006721562 AAI03944;AAI03945;AAI03947;BAA92587;BAD18548;EAX04519;NP_065838;Q9P2J8;XP_006721625 Hs.128078 1687634;1793020 PMC186597P3;RH99300 KIAA1349;MGC119602;MGC119603;MGC119605 OTTHUMP00000064982;OTTHUMP00000065230 protein-coding ENSG00000197566 HGNC:29254 18359 VALIDATED 1352371 ZNF625 zinc finger protein 625 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog) 19 19 19 p13.2 12150092 12161917 - 12255705 12267546 - 12144890 12156731 - 737633;1580863;6480464;8554872 12477932 15489334;16344560;20562864;22505724 90589 F2Z3I2;H7C2C9;Q96I27 ABBA01029805;AC022415;AMYH02035545;BC007868;BC101589;BC101591;BC143563;CH471106;DB071985;DN991057;NM_145233;NR_037801 AAH07868;AAI01590;AAI01592;AAI43564;ABZ92080;EAW84261;EAW84262;EAW84263;NP_660276;Q96I27 Hs.732736 OTTHUMP00000209841 protein-coding HGNC:30571 15880 VALIDATED 1606755 ZNF628 zinc finger protein 628 Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008] 19 19 19 q13.42 53027628 53035784 + 55987699 55995854 + 55476332 55484487 + 6480464 12477932;15489334;15556296;24778252 89887 K7EL41;Q5EBL2 ABBA01020870;AC008735;AF367249;AMYH02036467;AMYH02036468;BC016036;BC047332;BC089449;NM_033113;XM_005259371 AAH47332;AAH89449;AAK68716;NP_149104;Q5EBL2;XP_005259428 Hs.525209 1689191 RH91819 MGC105139;ZEC;Zfp628 OTTHUMP00000197269;zinc finger protein Zec APPROVED protein-coding ENSG00000197483 HGNC:28054 18317 610671 VALIDATED 1322437 ZNF626 zinc finger protein 626 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p12 20637163 20678851 - 20802745 20844402 - 20619939 20661596 - 737633;1580863;6480464;8554872 12477932 14702039;18255255;22505724;23400010 199777 M0QY39;Q68DY1 AA525169;ABBA01051358;AC010636;AK091329;AK096221;AMYH02035791;BC007116;BC107803;BX648764;CH471106;CR749233;HG510490;KC877708;NM_001076675;NM_145297 AAH07116;AAI07804;AAI72239;AAI72571;ABZ92121;BAC04729;CAH18089;EAW84878;EAW84879;NP_001070143;NP_660340;Q68DY1 Hs.657001 2220430;5015404;5015861;5015961;5016478;5020885;5020948;5022651;5024413;5091413;5106651;5109281;5109283;5109575;7185938;7186918 D10S16;D11S2921;D15S1477;D19S702E;D1S1425;D1S1431;ERV3;G35510;GDB:434012;L17705;L17791;L17877;SHGC-31340;STS-N35025;UniSTS:481985 MGC104224 CTC-513N18.7 protein-coding ENSG00000188171 HGNC:30461 15881 VALIDATED 1352479 ZNF63 zinc finger protein 63 7614 HGNC:13132 1314773 ZNF629 zinc finger protein 629 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; zidovudine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p11.2 29498892 29507651 + 30789770 30798564 - 30778449 30787243 - 1580863;6480464 12477932;1505991;18029348;1946370;22505724;23000965;9205841 23361 Q9UEG4 AB002324;ABBA01042056;AC106886;AK026115;AMYH02031829;BC015676;BC047041;BC063520;BC080594;CH471192;M88374;NM_001080417;XM_005255222 AAA61332;BAA20784;EAW52195;NP_001073886;Q9UEG4;XP_005255279 Hs.301094 1677100;1678355;1687147;1770267 Cda1jd07;D16S3188;RH65007;SHGC-61072 KIAA0326;ZNF;ZNF65 DNA-binding protein;zinc finger protein 65 protein-coding ENSG00000102870 HGNC:29008 PROVISIONAL 1321825 ZNF618 zinc finger protein 618 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2-methylcholine; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 9 9 9 q32 87285868 87466170 + 116638562 116818875 + 113876282 114056595 + 737633;1580863;6480464;8554872 12477932 11853319;19724895;19851296;20198315;20583170;23455922 114991 B1ALC2;B5MDS3;Q5T7W0 AB075832;ABBA01042678;AF147430;AF495724;AJ420454;AK126896;AL137850;AL162393;AMYH02021513;AMYH02021514;AMYH02021515;BC012922;BC036039;BC053892;BC130642;BC130644;BC136287;BC143826;BI463128;CH471090;NM_133374;XM_005251692;XM_005251693;XM_005251694;XM_005251695;XM_005251696;XM_005251697;XM_005251698;XM_005251699 AAH12922;AAH36039;AAH53892;AAI36288;AAQ06678;BAB85538;EAW87401;EAW87402;EAW87403;NP_588615;Q5T7W0;XP_005251749;XP_005251750;XP_005251751;XP_005251752;XP_005251753;XP_005251754;XP_005251755;XP_005251756 Hs.349208 1703792;1761477;1775368;2166006;2178150;2187063;2218690 RH65570;RH78690;SGC33380;SHGC-145484;SHGC-79121;STS-N25716;ZNF618__4714 FP13169;NEDD10 OTTHUMP00000021962;OTTHUMP00000021963;OTTHUMP00000021964;neural precursor cell expressed, developmentally down-regulated 10 protein-coding ENSG00000157657 HGNC:29416 18719 VALIDATED 6481204 ZNF630-AS1 ZNF630 antisense RNA 1 p11.23 100874120 AC244636;BX105576;HG512527;NR_046742;Z98304 Hs.738239 APPROVED ncrna HGNC:41215 VALIDATED 5132501 ZNF638-IT1 ZNF638 intronic transcript 1 (non-protein coding) 2 2 71451817 71454991 + 71601070 71604237 + 100507113 AADB02001877;ABBA01075553;AC007878;XR_109944;XR_112334;XR_115554 1691176 RH80604 miscrna HGNC:41434 MODEL 1343222 ZNF64 zinc finger protein 64 1505991 7615 HGNC:13133 1352524 ZNF630 zinc finger protein 630 This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X p11.3-p11.1 52113325 52126779 - 47917567 47931025 - 48058178 48071658 - 6480464 12477932;15489334;16344560;20186789 57232 B2ZWG8;B2ZWG9;B2ZWH0;F8WCH7;Q2M218 ABBA01052430;ABBA01052431;AC244636;AK000580;AK307979;AMYH02039292;BC037316;BC112139;BX116378;BX419623;CH471164;DA114160;DC319369;DC352599;DC353064;NG_022889;NM_001037735;NM_001190255;NM_001282201;NM_001282202;Z98304 AAI12140;ABZ92359;EAW59337;EAW59338;NP_001032824;NP_001177184;NP_001269130;NP_001269131;Q2M218 Hs.650883 1702042 DXS6616 FLJ20573;FLJ97927;FLJ98691;MGC138344;dJ54B20.2 OTTHUMP00000202168;OTTHUMP00000202169;OTTHUMP00000205040;dJ54B20.2 (novel KRAB box containing C2H2 type zinc finger protein) APPROVED protein-coding ENSG00000221994 HGNC:28855 300819 REVIEWED 1353900 ZNF639 zinc finger protein 639 ENCODES a protein that exhibits protein self-association; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; INVOLVED IN negative regulation by host of viral transcription; negative regulation of transcription, DNA-templated; positive regulation by host of viral transcription; FOUND IN nucleus; INTERACTS WITH copper(2+) sulfate; formaldehyde; hydrogen peroxide 3 3 3 q26.33 177472559 177484329 + 179041551 179053325 + 179323763 179335532 + 737633;1580863;6480464 12477932 14522885;15489334;16051665;16182284;16713569;19615732;20646234;21890473;24204263;24250222;24816145;25027693 51193 C9IZP0;C9J3R1;J3KR59;J3KR68;Q9UID6 AB097862;ABBA01058539;ABBA01058540;AC007823;AF003924;AMYH02008223;BC020500;BC026181;CH471052;DQ323613;NM_016331 AAF21240;AAH20500;AAH26181;ABD27860;ABZ92331;BAC77610;EAW78413;EAW78414;EAW78415;EAW78416;NP_057415;Q9UID6 Hs.632578 1658782;1670909;1735310;1735334;2108691;2133557;5108026 A002S03;ANC_2H01__4300.2;D3S2945E;D3S2959E;SHGC-77563;SHGC-77564;STS-N90567 6230400O18Rik;ANC-2H01;ANC_2H01;ZASC1 Kruppel-like;OTTHUMP00000212173;OTTHUMP00000212174;OTTHUMP00000212175;OTTHUMP00000212195;OTTHUMP00000212196;OTTHUMP00000212197;OTTHUMP00000212198;zinc finger amplified in esophageal squamous cell carcinomas 1;zinc finger protein ANC_2H01;zinc finger protein ZASC1 protein-coding HGNC:30950 15882 PROVISIONAL 1606174 ZNF641 zinc finger protein 641 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 12 12 12 q13.11 47529785 47541023 - 48729065 48745029 - 48335282 48351246 - 6480464;8554872 12477932;14702039;16343441;18029348;21988832;23455924 121274 F8VSM8;F8VXJ5;F8VZ73;F8VZV7;H0YHX6;Q96N77 ABBA01031481;AC024257;AK055857;AK092740;AK298064;AL713659;AMYH02026420;AY842285;BC018090;CH471111;DB445168;NM_001172681;NM_001172682;NM_152320;XM_005268637;XM_005268638;XM_005268639;XM_005268640 AAH18090;AAW28082;BAB71031;BAG52605;BAG60357;CAD28468;EAW57980;EAW57981;EAW57982;NP_001166152;NP_001166153;NP_689533;Q96N77;XP_005268694;XP_005268695;XP_005268696;XP_005268697 Hs.23492 1652269;1678663;1736238;1848215;1854747;2119367;2119369;2155553;2160920 A006Z41;D12S1175E;D12S1182E;D12S1404;RH47402;RH94099;SHGC-56774;STS-D60068;WI-18050 DKFZp667D1012;FLJ31295 OTTHUMP00000242444;OTTHUMP00000242445;OTTHUMP00000242446;OTTHUMP00000242449 protein-coding ENSG00000167528 HGNC:31834 08711 613906 VALIDATED 5129380 ZNF646P1 zinc finger protein 646 pseudogene 1 13 13 13 34969349 34970460 - 53982900 53984011 - 53408765 53409876 - 100419854 ABBA01037060;AL365230;AMYH02028056;NG_024858 pseudo HGNC:39749 INFERRED 1349975 ZNF638 zinc finger protein 638 The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 p13.1 71409609 71512927 + 71503729 71662191 + 71276593 71435061 + 6480464;8554872 11149944;11813260;12477932;14702039;15302935;15342556;15489334;15778465;15815621;16159877;16189514;16344560;16565220;16964243;17081983;18029348;19322201;19454010;19596686;20201926;20237496;21139048;21145461;21602272;21906983;21988832;22586326;22779921;22939629;23456168;24163370;24250222;24332808;24457600;24639526;24778252;24816145;8647861;9757574 27332 A8K583;C9JHV0;C9JMR2;C9JSD0;C9JWN0;E7EUZ3;M0QXP4;Q14966 ABBA01075553;AC007878;AC096569;AC104084;AC109343;AF273049;AF534078;AI357871;AK093578;AK098006;AK128706;AK291198;AK293938;AK303723;AK309221;AMYH02004049;AMYH02004050;AMYH02004051;AMYH02004052;AMYH02004053;BC010355;BC024000;BC064530;BC083513;BC143728;BM152722;BP348645;BX537425;BX649179;CH471053;CR749322;D83032;DB094964;DB130984;NM_001014972;NM_001252612;NM_001252613;NM_014497;XM_005264261;XM_005264262;XM_005264263;XM_005264264;XM_006711989;XM_006711990;XR_244928 AAF66079;AAG34909;AAH24000;AAH64530;AAH83513;AAI43729;AAM97681;AAX82028;AAY14979;BAA11748;BAC87583;BAF83887;BAG57315;BAG64699;CAD97667;CAH18177;EAW99767;EAW99768;EAW99769;EAW99770;EAW99771;EAW99772;NP_001014972;NP_001239541;NP_001239542;NP_055312;Q14966;XP_005264318;XP_005264319;XP_005264320;XP_005264321;XP_006712052;XP_006712053 Hs.434401;Hs.732823 1691176;1856716;2135463;5109281 D1S1425;RH45151;RH68305;RH80604 DKFZp686P1231;MGC26130;MGC90196;NP220;ZFML;Zfp638 CTCL tumor antigen se33-1;CTCL-associated antigen se33-1;NP220 nuclear protein;OTTHUMP00000160151;OTTHUMP00000202229;cutaneous T-cell lymphoma-associated antigen se33-1;nuclear protein 220;zinc finger matrin-like protein;zinc finger, matrin-like APPROVED protein-coding ENSG00000075292 HGNC:17894 11736 614349 REVIEWED 1345445 ZNF645 zinc finger protein 645 This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role in human sperm production and quality control. [provided by RefSeq, Aug 2011] X X X p22.11 26411875 26413389 + 22291030 22292578 + 22272913 22274461 + 1580863;6480464;8554872 12477932;14702039;15489334;15772651;18029348;20587329;20657603;21906983 158506 Q8N7E2 ABBA01072054;AK098601;AMYH02039008;BC074910;BC126190;BC126192;BX103567;BX293560;CH471074;GQ355336;HC044859;NG_021438;NM_152577 AAH74910;AAI26191;AAI26193;ADI56589;ADR83166;ADR83306;BAC05348;CBH30759;EAW98989;NP_689790;Q8N7E2 Hs.132485 5492509;5492679;5493635;5493745 UniSTS:481395;UniSTS:482007;UniSTS:490014;UniSTS:494509 CT138;FLJ25735 E3 ubiquitin ligase;E3 ubiquitin-protein ligase ZNF645;HAKAIL;OTTHUMP00000023053 APPROVED protein-coding ENSG00000175809 HGNC:26371 06545 REVIEWED 1351485 ZNF646 zinc finger protein 646 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p11.2 29202670 29211760 - 31085581 31094833 + 31074260 31083512 + 1580863;6480464 12477932;16189514;19060904;21139048;22451204;9205841 9726 C9J3L0;H3BSD0;O15015 AB002294;ABBA01042077;AC135050;AK304808;AMYH02031842;BC035589;CH471192;NM_014699;XM_005255710;XM_005255711;XM_005255712 AAH35589;BAA20756;BAG65558;EAW52170;EAW52171;NP_055514;O15015;XP_005255767;XP_005255768;XP_005255769 Hs.119273 1678389;1737551;1737575 D16S2660;D16S2666;RH91770 KIAA0296 OTTHUMP00000044993 protein-coding ENSG00000167395 HGNC:29004 15886 VALIDATED 1606465 ZNF648 zinc finger protein 648 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); 2-methoxyethanol (ortholog) 1 1 1 q25.3 155131144 155138287 - 182023705 182030847 - 182054570 182061712 - 6480464;8554872 12477932;16710414;17081983;20686565;23982368;24097068 127665 Q5T619 ABBA01027773;AK128654;AL355482;AMYH02002263;BC137223;BC137224;NM_001009992 AAI37224;AAI37225;NP_001009992;Q5T619 Hs.684328 OTTHUMP00000035419 protein-coding ENSG00000179930 HGNC:18190 18361 VALIDATED 1604575 ZNF644 zinc finger protein 644 The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 1 1 1 p22.2 89629009 89735831 - 91380855 91487812 - 90915298 91022255 - 6480464;8699517;7240710;8554872 10574462;11042152;12477932;14702039;15302935;15489334;16344560;16710414;19061646;19471022;20360068;20694148;21139048;21693764;21695231;21890473;21963094;22539872;22939629;23667531;24991186 84146 A7E234;Q9H582 AB019255;AB033047;ABBA01045569;ABBA01045570;AF208847;AK001587;AK023596;AK024026;AK291520;AL136109;AMYH02001454;AMYH02001455;AMYH02001456;AMYH02001457;AMYH02001458;AX405695;BC031003;BC041138;BC050656;BC063683;BC092462;BC110841;BC132776;BC132778;BC150177;BI760689;BX477299;CH471097;DA147194;DB001551;NG_029760;NM_016620;NM_032186;NM_201269;XM_005271257;XM_005271260;XM_005271261;XM_006710947;XM_006710948 AAF64261;AAH31003;AAH50656;AAH63683;AAH92462;AAI10842;AAI32777;AAI32779;AAI50178;BAA86535;BAA91773;BAB14618;BAB14785;BAD32777;BAF84209;CAD34802;EAW73118;NP_057704;NP_115562;NP_958357;Q9H582;XP_005271314;XP_005271317;XP_005271318;XP_006711010;XP_006711011 Hs.173001;Hs.745048 1650924;1677764;1699996;1748409;1849790;2133530;2135989;2151345;2165760;2174083;5093264 A009K24;AL009587;AL010033;AU015726;G32616;RH103608;RH99247;SHGC-31099;SHGC-75131;SHGC-75132;SHGC-75133 BM-005;KIAA1221;MGC60165;MGC70410;MYP21;NatF;Zep-2 OTTHUMP00000011764;OTTHUMP00000011765;OTTHUMP00000011766;zinc finger motif enhancer binding protein 2;zinc finger motif enhancer-binding protein 2;zinc finger protein 644, isoform 2 APPROVED protein-coding ENSG00000122482 HGNC:29222 15885 614159;614167 REVIEWED 1347134 ZNF627 zinc finger protein 627 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; copper(2+) sulfate; coumestrol 19 19 19 p13.2 11602969 11624141 + 11708235 11729974 + 11597420 11619159 + 737633;6480464;8554872 12477932 12016960;14702039;15489334;16344560;17967605;18077766;19709766;22505724 199692 K7EJ27;K7EKY8;K7ELG4;Q7L945 ABBA01029830;ABBA01029831;AC020947;AC104527;AF024694;AK074846;AK075063;AK095639;AMYH02035531;AMYH02035532;AMYH02035533;BC006279;BC039523;BC069232;BC098416;CH471106;CQ783708;DA786363;DB043358;DB158202;NM_001290083;NM_001290084;NM_001290085;NM_145295;XR_244093;XR_248529;XR_253848 AAB81084;AAH06279;AAH69232;AAH98416;ABZ92120;BAC11240;BAC11379;CAF86822;EAW84236;EAW84237;NP_001277012;NP_001277013;NP_001277014;NP_660338;Q7L945 Hs.526665;Hs.733199 1648015;2119678;2119680 A005Q34;G20420;RH11973 FLJ90365 protein-coding ENSG00000198551 HGNC:30570 18360 612248 VALIDATED 1350374 ZNF65 zinc finger protein 65 1505991 7616 HGNC:13134 9479373 ZNF649-AS1 ZNF649 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 19 19 q13.41 52391285 52403547 + 51888030 51900515 + 8554872 16344560 101928571 ABBA01068262;AC011460;AI458876;AMYH02036393;DB080180;HG510983;NR_110733;XR_244010;XR_248587;XR_253903 Hs.553920 ncrna ENSG00000268095 HGNC:51285 VALIDATED 2301491 ZNF652P1 zinc finger protein 652 pseudogene 1 3 3 3 p21.31 50797152 50799593 - 50823686 50826127 - 50786255 50788696 - 1740334 646592 Q7M4M3 ABBA01024537;AC099047;AMYH02006777;NG_013223;NG_028012 ZNF652P APPROVED pseudo HGNC:35166 INFERRED 1606512 ZNF649 zinc finger protein 649 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; nucleus; INTERACTS WITH benzo[a]pyrene diol epoxide I; bisphenol A; formaldehyde 19 19 19 q13.41 49442054 49457871 - 52392488 52408305 - 51889235 51905052 - 6480464;8554872 11076863;11230166;11256614;12477932;14702039;15489334;15489336;15950191;16344560;16381901;20562864;21549307;23455924;8125298 65251 M0QX90;M0QYA0;M0R098;M0R1B1;Q9BS31 ABBA01068262;AC011460;AF086241;AK000909;AK022706;AK225480;AK315487;AL713677;AMYH02036393;BC005368;CH471135;DA782250;NM_023074;XM_005259168 AAH05368;BAB14191;BAG37871;CAD28482;CAL38213;EAW72050;NP_075562;Q9BS31;XP_005259225 Hs.148322 2175979 RH18492 FLJ12644 protein-coding ENSG00000198093 HGNC:25741 07785 611903 VALIDATED 1347968 ZNF653 zinc finger protein 653 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4-dinitrotoluene (ortholog); benzo[a]pyrene (ortholog) 19 19 19 p13.2 11488980 11511481 - 11594242 11616738 - 11483427 11505923 - 737633;1580863;6480464 12477932 12920234;15489334;8889548 115950 K7EJG9;K7EKL4;K7EL79;K7ENS4;Q96CK0 ABBA01029845;ABBA01029846;ABBA01029847;AC008481;AK131037;AK314986;AMYH02035530;AY072704;BC014187;BC016816;CB241280;CH471106;NM_138783 AAH14187;AAH16816;AAL66763;ADR82777;EAW84224;NP_620138;Q96CK0 Hs.465928 1681624;1734660;5491681 D19S665E;MARC_7831-7832:996688076:1;RH98319 E430039K05Rik;ZIP67 67 kDa zinc finger protein;zinc finger protein Zip67 protein-coding ENSG00000161914 HGNC:25196 15889 611371 VALIDATED 1350708 ZNF652 zinc finger protein 652 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine 17 17 17 q21.32 43821019 43894844 - 47366568 47439835 - 49289206 49362473 - 6480464 10231032;12477932;14702039;16751776;16966434;18456661;19430483;20204290;20414254;20542020;20852445;20881960;21045733;21602798;21678463;21909110;22829776;23535732;24250222 22834 A8K9F2;D6RF85;Q9Y2D9 AB023141;ABBA01041198;ABBA01041199;ABBA01041200;ABBA01041201;ABBA01041202;ABBA01041203;ABBA01041204;ABBA01041205;AC004797;AC091180;AK093834;AK292667;AMYH02033567;AMYH02033568;AMYH02033569;AMYH02033570;AMYH02033571;AMYH02033572;BC028045;BC034987;BC139779;BC152440;CH471109;CR933680;DN998934;DQ589455;NM_001145365;NM_014897;XM_005257166;XM_006721774;XM_006721775 AAI39780;AAI52441;BAA76768;BAF85356;CAI45974;EAW94682;EAW94683;NP_001138837;NP_055712;Q9Y2D9;XP_005257223;XP_006721837;XP_006721838 Hs.463375;Hs.712948 1647019;1654363;1659002;1691066;1693304;1849826;1857483;2117926;2142996;2147075;2178964;2181753;5022200 G42356;L18426;RH16340;RH18287;RH41933;RH66725;RH67812;RH70768;RH80400;SGC35087;SGC44344;SHGC-33135;SHGC-64325 DKFZp781E2122;KIAA0924 OTTHUMP00000220045;OTTHUMP00000220046;OTTHUMP00000220047 protein-coding HGNC:29147 18362 613907 VALIDATED 1603811 ZNF658B zinc finger protein 658B, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH aflatoxin B1; bisphenol A; clorgyline 9 9 9 p12 39796402 39797199 + 41588836 41592207 - 39443818 39447189 - 6480464 12477932;14702039;15164053;16344560;17207965;17868192;20400511;8889548 401509 Q4V348 ABBA01016727;AK095694;AL590491;AL954139;AMYH02019604;BC137089;BU685875;BX005214;DA115965;DR001461;NR_003528;NR_027861 AAI37090;BAC04610;Q4V348 Hs.449445;Hs.730226 5095528;5096983 RH119101;RH121564 MGC168709 APPROVED pseudo ENSG00000198416 HGNC:32033 VALIDATED 1345360 ZNF654 zinc finger protein 654 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; copper atom; copper(0) 3 3 3 p11.1 88942131 88947592 + 88108394 88193814 + 88059244 88144664 + 6480464 14702039 55279 Q8IZM8 ABBA01004634;AC119733;AC128650;AF543494;AK001859;AK024795;AL357201;AMYH02007220;CH471110;LN607982;LN607983;LN607984;NM_018293;XM_005264762;XM_006713246;XM_006713247;XM_006713248 AAI48425;AAI53005;AAN40504;BAA91946;BAB15007;EAW68861;EAW68862;NP_060763;Q8IZM8;XP_005264819;XP_006713309;XP_006713310;XP_006713311 Hs.591650;Hs.661116 1645064;1777199;1784894;5493437 RH44266;SHGC-37158;SHGC-79019;UniSTS:486248 FLJ10997;FLJ21142 OTTHUMP00000214069;melanoma-associated antigen protein-coding ENSG00000175105 HGNC:25612 07722 VALIDATED 1353056 ZNF66 zinc finger protein 66 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p12 20793517 20854461 + 20959076 21020282 + 20776270 20837476 + 6480464 12477932;1505991;16344560;1946370;20379614 7617 I3L137;I3L2D0;M0QY27;Q6ZN08 ABBA01051360;AC008463;AC010329;AMYH02035795;AMYH02035796;M88375;NG_023377 AAA61333;Q6ZN08 1733844 D19S602 FLJ16537;MGC87430;ZNF66P APPROVED pseudo HGNC:13135 15890 INFERRED 1346042 ZNF660 zinc finger protein 660 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; dioxygen; trichostatin A 3 3 3 p21.31 44564450 44575551 + 44626456 44641186 + 44584889 44599694 + 6480464 12477932;14702039;15489334;22505724 285349 C9J3D4;C9J3N9;Q6AZW8 ABBA01024739;AC099669;AK094189;AMYH02006648;BC075094;BC075095;BX538171;CH471055;NM_173658;XM_005265090;XM_006713117 AAH75094;AAH75095;BAC04303;CAD98047;EAW64713;NP_775929;Q6AZW8;XP_005265147;XP_006713180 Hs.733134 2120939;5024756;5037552;5492503;5492763 D3S3969;D8S2279;RH80030;UniSTS:481381;UniSTS:482374 FLJ36870 OTTHUMP00000164128;OTTHUMP00000209719;OTTHUMP00000209720 protein-coding ENSG00000144792 HGNC:26720 08213 VALIDATED 1345425 ZNF658 zinc finger protein 658 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; 17beta-estradiol; all-trans-retinoic acid 9 9 9 p13.1 39737402 39740723 + 40771188 40792112 - 66900725 66921665 + 6480464;8554872 11181995;12477932;14702039;15164053;15489334;16344560;22082156;24250222 26149 Q5TYW1 AA657471;AI123536;AI308081;AK022636;AK024222;AK057375;AK292150;AL110217;AL353770;AMYH02019766;BC031626;BX479383;BX664608;CH878355;DA120232;DA404383;NM_033160;XM_005272515;XM_005272516;XM_006716917;XM_006716918;XM_006716919 AAH31626;BAB14145;BAB71457;BAF84839;BAG51273;CAB53677;EAW50476;NP_149350;Q5TYW1;XP_005272572;XP_005272573;XP_006716980;XP_006716981;XP_006716982 Hs.522147 5095528;5096983 RH119101;RH121564 DKFZp572C163;FLJ32813;MGC35232 OTTHUMP00000015412 protein-coding ENSG00000274349 HGNC:25226 11342 VALIDATED 1602806 ZNF662 zinc finger protein 662 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH fonofos; parathion; terbufos 3 3 3 p22.1 42885293 42898663 + 42947402 42960825 + 42905910 42919333 + 6480464 12477932;14702039 389114 F8WE97;Q6ZS27 ABBA01024760;AC092043;AK054699;AK090666;AK090754;AK127779;AK128676;AK131235;AMYH02006630;AMYH02006631;AW117418;BC128085;CH471055;NM_001134656;NM_207404 AAI28086;BAC87129;BAC87565;BAD18417;EAW64683;EAW64684;EAW64685;NP_001128128;NP_997287;Q6ZS27 Hs.720173 5015619;5015961;5037552 D11S3114;D15S1477;D8S2279 FLJ33347;FLJ45880;MGC149141 OTTHUMP00000164035;OTTHUMP00000209907 protein-coding HGNC:31930 13516 VALIDATED 1605935 ZNF665 zinc finger protein 665 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsane; arsenic atom; arsenite(3-) 19 19 19 q13.42 50713768 50738515 - 53666552 53696619 - 53163299 53193366 - 6480464;8554872 14702039;16344560;22505724;22561531 79788 Q9H7R5 ABBA01068220;ABBA01068221;AC092070;AK096261;AK291403;AL832507;AMYH02036419;AMYH02036420;AMYH02036421;AMYH02036422;DA696332;NM_024733;XM_005259266;XM_006723387;XM_006723388;XM_006723389;XM_006723390;XM_006723391 BAF84092;NP_079009;Q9H7R5;XP_005259323;XP_006723450;XP_006723451;XP_006723452;XP_006723453;XP_006723454 Hs.745230 1677628;1762065;1856522;5015879;5022578;5037552 D19S862;D1S1423;D8S2279;GDB:314949;RH94203;SHGC-145975 FLJ14345;ZFP160L zinc finger protein 160-like protein-coding HGNC:25885 07856 PROVISIONAL 1603200 ZNF667 zinc finger protein 667 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsenite(3-); benzo[a]pyrene (ortholog); pirinixic acid (ortholog) 19 19 19 q13.43 53993696 54031761 - 56950693 56988770 - 56439324 56477401 - 6480464;8554872 12477932;14702039;15489334;16344560;17397802;20379614;21139048;21900206;23080069;24250222 63934 K7EIE0;K7EQ15;K7ERY5;M0QX02;Q5HYK9 ABBA01020833;ABBA01020834;ABBA01020835;ABBA01020836;AC006116;AC013256;AC098795;AK024073;AK056508;AK096513;AK126957;AK127426;AMYH02036493;BC074898;BC074899;BC136388;BC150593;BX642001;BX647401;CA428758;CH471135;CR936605;DA580285;NM_022103;NR_030740 AAF06067;AAH74898;AAH74899;AAI36389;AAI50594;BAG51734;CAI46040;CAI56751;EAW72453;EAW72454;NP_071386;Q5HYK9 Hs.676605 2141321;2173382;5016478;5022450;5022578;5037552;5492703;5493993 D10S275;D1S1423;D1S3018;D8S2279;GDB:434012;STS-AA015922;UniSTS:480669;UniSTS:482087 DKFZp686O111;FLJ14011;FLJ45518;MIPU1 myocardial ischemic preconditioning upregulated 1 ortholog protein-coding ENSG00000198046 HGNC:28854 08592 611024 VALIDATED 1606961 ZNF664 zinc finger protein 664 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus; INTERACTS WITH 3,3',5-triiodo-L-thyronine; atrazine; cobalt dichloride 12 12 12 q24.31 124057506 124099805 + 124457699 124499986 + 123973215 124015439 + 6480464 11076863;11230166;11256614;12477932;14702039;15489336;16344560;16381901;19322201;19936222;20686565;22589738;24097068;24105470;24250222;8634327;8889548 144348 Q8N3J9 ABBA01060387;AC068790;AK023009;AK056034;AL834266;AMYH02027464;BC017960;BC037793;BC051696;BC093848;BC101530;BQ185193;BX647762;CH471054;CS300563;DA304849;DA328413;L41669;NM_001204298;NM_152437 AAC41997;AAH17960;AAH51696;AAH93848;AAI01531;ABZ92103;BAG51609;CAD38941;CAH10567;CAK32227;CAL37684;EAW98441;EAW98442;EAW98443;EAW98444;EAW98445;EAW98446;NP_001191227;NP_689650;Q8N3J9 Hs.524828 1647245;1694820;1697910;1780404;5493137 AW060232;G43642;RH102483;RH45840;UniSTS:484411 DKFZp761B128;MGC126579;ZFOC1;ZNF176 OTTHUMP00000239105;OTTHUMP00000239106;OTTHUMP00000239107;OTTHUMP00000239108;zinc finger Organ of Corti 1;zinc finger protein 176;zinc finger protein ZFOC1;zinc finger protein from organ of Corti protein-coding ENSG00000179195 HGNC:25406 15723 VALIDATED 1605939 ZNF668 zinc finger protein 668 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; tunicamycin; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p11.2 29211862 29225335 + 31072164 31085641 - 31060843 31074320 - 6480464 12477932;14702039;15489334;16344560;19322201;21852383;23777805;24816145 79759 A8K1I4;C9J092;C9JCJ0;C9JG35;Q96K58 AB209710;ABBA01042077;AC135050;AK023541;AK027398;AK289899;AK308239;AK315623;AMYH02031840;AMYH02031841;AMYH02031842;BC021997;CH471192;DA450347;DC412389;KF459566;NM_001172668;NM_001172669;NM_001172670;NM_024706;XM_005255579 AAH21997;ABZ92059;BAB14602;BAB55084;BAD92947;BAF82588;BAG37991;EAW52172;EAW52173;EAW52174;NP_001166139;NP_001166140;NP_001166141;NP_078982;Q96K58;XP_005255636 Hs.102928 1661906;1685401 RH47854;SHGC-63580 FLJ13479;FLJ14492 OTTHUMP00000045000;OTTHUMP00000045001;OTTHUMP00000045005 protein-coding ENSG00000167394 HGNC:25821 07828 VALIDATED 1605627 ZNF669 zinc finger protein 669 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 1 1 1 q44 220559566 220563976 - 247263264 247267685 - 247099962 247104383 - 6480464 12477932;14702039;15489334;16710414;22505724 79862 E5RI66;Q5VT36;Q5VT37;Q96BR6 ABBA01031779;AK022668;AK056020;AL627095;AMYH02003131;BC015312;CA447495;CH471148;NM_001142572;NM_024804;XM_005273270;XM_005273271 AAH15312;BAB14166;BAG51606;EAW77172;EAW77173;NP_001136044;NP_079080;Q96BR6;XP_005273327;XP_005273328 Hs.163754 5015619;5016596;5037552;5109362 D11S3114;D17S1239;D8S2279;GDB:631802 FLJ12606 OTTHUMP00000038562;OTTHUMP00000038564;OTTHUMP00000227797;OTTHUMP00000227798 protein-coding ENSG00000188295 HGNC:25736 07783 VALIDATED 7372825 ZNF670-ZNF695 ZNF670-ZNF695 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 670 (ZNF670) and zinc finger protein 695 (ZNF695) genes on chromosome 1. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 1 1 q 247108849 247242115 - 246945547 247078813 - 20967262;23006423 100533111 ABBA01031776;ABBA01031777;ABBA01031778;ABBA01031779;AC113174;AK126366;AL512637;AL524527;AL627095;AMYH02003126;AMYH02003127;AMYH02003128;AMYH02003129;AMYH02003130;NR_037894 BAG54313 Hs.732305 ncrna HGNC:49200 VALIDATED 1603930 ZNF670 zinc finger protein 670 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 1-fluoro-2,4-dinitrobenzene; 4-(ethoxymethylene)-2-phenyloxazol-5-one; all-trans-retinoic acid 1 1 1 q44 220495929 220538357 - 247197940 247242115 - 247034638 247078813 - 6480464 12477932;14702039;15489334;15592455;16189514;16344560;16710414;18029348;19060904;21988832;22505724;23006423;23455924 93474 E7EVQ0;F2Z2N8;Q9BS34 ABBA01031778;ABBA01031779;AK027325;AK074774;AL512637;AL627095;AMYH02003128;AMYH02003129;AMYH02003130;BC005360;BG532425;CH471148;CQ783971;DA509721;DA757117;DB291578;DB367437;NM_001204220;NM_033213 AAH05360;ABZ92089;BAC11200;CAF86950;EAW77170;NP_001191149;NP_149990;Q9BS34 Hs.732305 2180718;2187478 AFM207xa7;RH70897 FLJ12606;MGC12466 OTTHUMP00000038527 protein-coding HGNC:28167 11305 VALIDATED 1602675 ZNF671 zinc finger protein 671 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; amphotericin B; cisplatin 19 19 19 q13.43 55274647 55282522 - 58231115 58238995 - 57719751 57727627 - 6480464;8554872 12477932;14702039;15489334;16344560;21890473;21900206 79891 C9J3V7;M0QX87;M0R091;Q8TAW3 ABBA01020803;ABBA01020804;AC003006;AK027159;AK091421;AK225665;AK293680;AK310074;AMYH02036519;AMYH02036520;BC025728;CH471135;DB104548;NM_024833 AAH25728;ABZ92062;BAB15677;BAH11567;EAW72528;EAW72529;NP_079109;Q8TAW3 Hs.180402 1687618;1714725 RH120027;RH98527 FLJ23506 protein-coding ENSG00000083814 HGNC:26279 08031 VALIDATED 1602674 ZNF672 zinc finger protein 672 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl 1 1 1 q44 222293723 222305000 + 249132409 249143716 + 248838210 248849517 + 6480464 12477932;14702039;15489334 79894 D6RD56;D6RH11;Q499Z4 ABBA01002095;AK025954;AK027476;AK027679;AK298016;AL672291;AMYH02003156;AX882771;BC007385;BC008872;BC029310;BC035140;BC050348;BC068506;CH471257;NM_024836;XM_005270336 AAH07385;AAH08872;AAH35140;AAH50348;AAH68506;BAB15294;BAB55290;BAG60320;CAE91724;EAW57538;NP_079112;Q499Z4;XP_005270393 Hs.521151 1770397;2133991;5092750 A005X35;G32305;SHGC-33414 FLJ22301 OTTHUMP00000222433;OTTHUMP00000222434;OTTHUMP00000222435;OTTHUMP00000222436 protein-coding ENSG00000171161 HGNC:26179 07983 PROVISIONAL 7245379 ZNF667-AS1 ZNF667 antisense RNA 1 (head to head) 19 19 19 q13.43 54032234 54049791 + 56989243 57006806 + 56477874 56495437 + 12477932 100128252 ABBA01020833;AC004696;AC098795;AMYH02036493;AW955601;BC008651;BC110411;KF456617;NR_036521;NR_036522 AAH08651 Hs.23133 1683583;1722463 G61972;RH16574 ncrna ENSG00000166770 HGNC:44321 VALIDATED 4107144 ZNF663P zinc finger protein 663, pseudogene INTERACTS WITH benzo[a]pyrene (ortholog); pirinixic acid (ortholog); potassium dichromate (ortholog) 20 20 20 q13.12 41796547 41797698 - 45085132 45086282 - 46456493 46457643 - 6480464 11181995;12477932;15489334 100130934 ABBA01052680;AL031686;AL831934;AMYH02037160;BC100775;BC100776;BC100777;CH471077;NR_045983 CAD38590;EAW75737 Hs.712133 5492843 UniSTS:483018 DKFZp547G0215;MGC118776;ZNF663 APPROVED pseudo HGNC:25342 PROVISIONAL 1602785 ZNF674 zinc finger protein 674 This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked mental retardation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010] X X X p11.3 50549004 50596734 - 46357160 46404892 - 46497725 46545457 - 6480464;7240710 11181995;16344560;16385466;22126752;22505724;24250222 641339 E5RHV3;Q2M3X9 ABBA01052217;ABBA01052218;ABBA01052219;ABBA01052220;ABBA01052221;ABBA01052222;ABBA01052223;ABBA01052224;AK295054;AK308986;AL022165;AL031393;AMYH02039257;AW173662;AY971607;BQ417100;BX648127;CH471164;DA195605;DC317540;KF459098;NG_023376;NM_001039891;NM_001146291;NM_001190417 AAI56258;AAI57039;AAY40800;BAG58103;EAW59264;EAW59265;EAW59266;NP_001034980;NP_001139763;NP_001177346;Q2M3X9 Hs.636105 5015605 D11S2977 DKFZp686H0940;MRX92;ZNF673B OTTHUMP00000226865;OTTHUMP00000226866;OTTHUMP00000226867;mental retardation, X-linked 92;zinc finger family member 674 APPROVED protein-coding ENSG00000251192 HGNC:17625 300573;300851 REVIEWED 1351627 ZNF655 zinc finger protein 655 This gene encodes a zinc finger protein. The zinc finger proteins are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 93890274 93908309 + 99156034 99174076 + 99558422 99576453 + 6480464 11179890;12477932;12690205;12853948;14702039;15489334;15558030;16189514;16314882;16341674;23275563;23824909;8125298 79027 C9IYG2;C9J0V9;C9J9R2;C9JNK1;C9JS03;C9JUB9;D6W5T3;F8WCS2;F8WDU5;F8WE52;F8WEB1;F8WEM9;Q68DU4;Q8N720 ABBA01013254;ABBA01013255;AC005020;AF086023;AK027114;AK054750;AK057245;AK098231;AK122929;AK128057;AK225976;AK304785;AK314593;AK316024;AMYH02016365;AY099353;BC000823;BC004288;BC007378;BC011816;BC024770;BC037407;BC063478;BE293580;BI548533;BI912391;BM829333;BX490067;CH236956;CH471091;CR749270;DN993232;NG_029962;NM_001009958;NM_001009960;NM_001083956;NM_001085366;NM_001085367;NM_001085368;NM_024061;NM_138494;XM_005250577;XM_005250578;XM_005250581;XM_005250583;XM_006716122;XM_006716123;XM_006716124 AAH00823;AAH04288;AAH07378;AAH11816;AAH24770;AAH37407;AAM33786;AAS02017;ABZ92053;BAB71394;BAG37165;BAG53803;BAG54623;BAG65536;BAH14395;CAH18126;EAL23870;EAL23871;EAW76648;EAW76649;EAW76650;EAW76651;NP_001009958;NP_001009960;NP_001077425;NP_001078835;NP_001078836;NP_001078837;NP_076966;NP_612503;Q8N720;XP_005250634;XP_005250635;XP_005250638;XP_005250640;XP_006716185;XP_006716186;XP_006716187 Hs.599798 1655836;1687329;1688002;1697634;1855110;5015619;5037552 D11S3114;D7S2042E;D8S2279;RH102330;RH92314;RH92514;WI-16402 DKFZp686M1631;FLJ23461;MGC10859;MGC16203;MGC5521;VIK;VIK-1 OTTHUMP00000210242;OTTHUMP00000210243;OTTHUMP00000210245;OTTHUMP00000210246;OTTHUMP00000210247;OTTHUMP00000210248;OTTHUMP00000210251;OTTHUMP00000210254;OTTHUMP00000210255;OTTHUMP00000210256;vav-1 interacting Kruppel-like protein;vav-interacting Krueppel-like protein APPROVED protein-coding ENSG00000197343 HGNC:30899 11673 REVIEWED 6893033 ZNF674-AS1 ZNF674 antisense RNA 1 (head to head) INTERACTS WITH valproic acid X X X p11.23 50596770 50599513 + 46404925 46407910 + 46545490 46548475 + 6480464 12477932;14702039;16344560 401588 ABBA01052224;AK056314;AL022165;AMYH02039257;BC034616;DA707714;NG_023376;NR_015378 Hs.729370 5022450;5037552 D10S275;D8S2279 APPROVED ncrna ENSG00000230844 HGNC:44266 VALIDATED 1347814 ZNF68 zinc finger protein 68 7619 HGNC:13137 1604218 ZNF675 zinc finger protein 675 ENCODES a protein that exhibits ubiquitin protein ligase binding; INVOLVED IN cytokine-mediated signaling pathway; I-kappaB kinase/NF-kappaB signaling; negative regulation of interleukin-1-mediated signaling pathway; FOUND IN nucleus; perinuclear region of cytoplasm; INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; ethyl methanesulfonate 19 19 19 p12 23672149 23706760 - 23835583 23870036 - 23652781 23687234 - 6480464 11751921;11851921;14702039;15231748;15576338;16344560;22505724 171392 M0QXM7;M0QXU1;M0R1W1;M0R1X5;M0R373;M0R3E4;M0R3G8;Q8TD23 AB209601;ABBA01051438;ABBA01051439;AC073544;AK093669;AK307845;AMYH02035843;AY044432;CH471106;DA777369;NM_138330;XM_005259800;XM_005259801;XM_006722679;XM_006722680 AAI56534;AAI72491;AAK95822;BAC04216;BAD92838;EAW84944;EAW84945;NP_612203;Q8TD23;XP_005259857;XP_005259858;XP_006722742;XP_006722743 Hs.264345 2220430;5020946;5113020 L17971;RH80873;UniSTS:481985 FLJ36350;TBZF;TIZ TRAF6 inhibitory zinc finger;TRAF6-binding zinc finger protein;TRAF6-inhibitory zinc finger protein protein-coding ENSG00000197372 HGNC:30768 18193 VALIDATED 8553115 ZNF680P1 ZNF680 pseudogene 1 7 7 7 q11.21 57649323 57650719 + 63929554 63930950 + 64469176 64470572 + 728947 ABBA01027977;AC022202;AMYH02015849;NG_022565 pseudo HGNC:50379 INFERRED 1602290 ZNF676 zinc finger protein 676 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',5-triiodo-L-thyronine 19 19 19 p12 22194153 22212264 - 22361903 22379753 - 22179101 22196951 - 6480464;8554872 14702039;20085233;20421499;22505724;23001564 163223 Q8N7Q3 ABBA01051403;ABBA01051404;AC073539;AC212997;AK097798;AMYH02035819;BX281304;NM_001001411;XM_005276953 BAC05174;NP_001001411;Q8N7Q3;XP_005277010 Hs.55452 1663124;1851256;2220626 D17S1691;D19S1074;UniSTS:486333 protein-coding ENSG00000196109 HGNC:20429 17313 PROVISIONAL 1603154 ZNF678 zinc finger protein 678 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper atom; copper(0) 1 1 1 q42.13 200943099 201042046 + 227751220 227865144 + 227563519 227677443 + 6480464;8554872 12477932;15489334;16344560;16710414;18391952;20379614;20546612;20846217;21890473 339500 B1APK8;F5GXA7;Q5SXM1;V9GYU6 AB074269;ABBA01009609;ABBA01009610;ABBA01009611;AI655010;AK026475;AK307248;AK311313;AL451054;AL592310;AMYH02002829;BC007286;BC042500;CD655825;CH471098;DA213851;NM_178549;NR_033184;NR_102302 AAH42500;EAW69812;EAW69813;NP_848644;Q5SXM1 Hs.30323 1686250;1698152;1748647;1855672 RH102609;RH80566;SHGC-110313;SHGC-76440 FLJ18355;FLJ22822;MGC15634;MGC42493 OTTHUMP00000035839;hypothetical protein MGC42493 protein-coding HGNC:28652 14622 VALIDATED 1604169 ZNF677 zinc finger protein 677 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-); valproic acid 19 19 19 q13.42 50780541 50800009 - 53738638 53758219 - 53235385 53254966 - 6480464;8554872 12477932;15489334;18029348;21988832;22505724 342926 M0QYA4;M0R079;M0R0I7;M0R1V2;M0R297;Q86XU0 ABBA01068218;AC092070;AK026366;AK308120;AMYH02036423;BC029855;BC050038;BX648243;CH471135;NM_182609;XM_005258860;XM_005258862;XM_005258863 AAH29855;AAH50038;ABZ92161;ADZ15985;EAW72124;NP_872415;Q86XU0;XP_005258917;XP_005258919;XP_005258920 Hs.20506 1337701;1704486;1851917;2123047;5014051;5015619;5015881;5021872;5022651;5037552;5117897 D11S2921;D11S3114;D19S180;D8S2278;D8S2279;GDB:335751;GDB:631813;SHGC-36894;SHGC-82990;WI-11649;sY3084 MGC48625 hypothetical protein MGC48625 protein-coding ENSG00000197928 HGNC:28730 14658 PROVISIONAL 2305769 ZNF679 zinc finger protein 679 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 7 7 7 q11.21 57408522 57446982 + 63688852 63727309 + 64228474 64266931 + 6480464;8554872 12477932;15489334;16189514;20339536;20379614;22505724 168417 Q8IYX0 ABBA01027975;ABBA01027976;AC073270;AMYH02015848;BC033523;CH471204;NM_153363 AAH33523;EAW77958;EAW77959;NP_699194;Q8IYX0 Hs.520884 1708146 SHGC-79317 MGC42415 OTTHUMP00000209952;hypothetical protein MGC42415 protein-coding ENSG00000197123 HGNC:28650 14621 VALIDATED 1604477 ZNF680 zinc finger protein 680 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; benzo[a]pyrene diol epoxide I; cyclosporin A 7 7 7 q11.21 57700001 57743229 - 63980255 64023505 - 64501367 64563127 - 6480464 12477932;14702039;15489334;16344560;18029348;19913121;20379614;20628086;21890473;22505724 340252 Q8NEM1 ABBA01027977;AC016769;AC022202;AK074911;AK122937;AK131240;AMYH02015850;AMYH02015851;BC030700;CH471204;CQ783992;DA669757;NM_001130022;NM_178558;XM_006715959;XR_428175 AAH30700;ACE86773;ACE87459;ADZ15941;BAC11286;BAD18422;BAG53806;CAF86960;EAW77966;EAW77967;EAW77968;EAW77969;EAW77970;EAW77971;NP_001123494;NP_848653;Q8NEM1;XP_006716022 Hs.520886 1679519;2220430;2220626;5016865 RH39204;RH65501;UniSTS:481985;UniSTS:486333 FLJ90430 OTTHUMP00000210084;OTTHUMP00000210085 protein-coding ENSG00000173041 HGNC:26897 08296 VALIDATED 1606957 ZNF681 zinc finger protein 681 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B1; copper(2+) sulfate 19 19 19 p12 23759993 23780146 - 23921997 23941693 - 23739195 23758891 - 6480464;8554872 12477932;14702039;22505724;8889548 148213 E9PJB6;E9PSC0;Q96N22 ABBA01051443;AC073544;AC139769;AK056088;AK122869;AMYH02035843;BC062216;BC082233;BC136346;BU726573;CH471106;NM_138286 AAI36347;BAB71090;BAG53769;EAW84947;EAW84948;EAW84949;NP_612143;Q96N22 Hs.399952;Hs.735840 5015879;5020740;5113020;7186918 ERV3;GDB:314949;L17809;RH80873 FLJ31526 OTTHUMP00000198578 protein-coding ENSG00000196172 HGNC:26457 08102 VALIDATED 1601926 ZNF683 zinc finger protein 683 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN natural killer cell differentiation (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH amiodarone 1 1 1 p36.11 25084470 25095611 - 26688125 26701023 - 26361634 26374532 - 6480464;8554872 12477932;15489334;16710414 257101 Q5T142;Q5T145;Q8IZ20;X1WI31;X1WI32 ABBA01034907;AL451139;AMYH02000562;BC028731;BC029505;BI465178;CH471059;NM_001114759;NM_173574;XM_005245828;XM_005245829;XM_005245830;XM_005245831;XM_005245832;XM_006710555;XM_006710556;XM_006710557 AAH28731;AAH29505;ABZ92126;EAX07816;EAX07817;EAX07818;NP_001108231;NP_775845;Q8IZ20;XP_005245885;XP_005245886;XP_005245887;XP_005245888;XP_005245889;XP_006710618;XP_006710619;XP_006710620 Hs.353208 MGC33414;RP11-569G9.6 OTTHUMP00000003617;OTTHUMP00000003618;hypothetical protein MGC33414 protein-coding ENSG00000176083 HGNC:28495 14563 VALIDATED 1603286 ZNF682 zinc finger protein 682 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsenite(3-); arsenous acid; diarsenic trioxide 19 19 19 p12 20020611 20055656 - 20115227 20150277 - 20004418 20039468 - 6480464;8554872 12477932;14702039;15057824;16344560;21890473;22505724 91120 B3KUX2;B9EG95;M0QXB8;M0QYJ5;M0QZ56;M0R067;M0R1A6;M0R2B6;O95780 ABBA01051345;ABBA01051346;ABBA01051347;AC006539;AK027845;AK074843;AK096571;AK098164;AK127015;AMYH02035773;AMYH02035774;BC136304;CH471106;DA612976;DA788529;DB174863;DR002650;NM_001077349;NM_033196;XM_005260146;XM_005260147 AAD14470;AAD14471;AAD14472;AAI36305;BAB55408;BAC11238;BAG53326;BAG53584;EAW84868;EAW84869;EAW84870;NP_001070817;NP_149973;O95780;XP_005260203;XP_005260204 Hs.306298 1674324;5014051;5022200;5037552 D8S2278;D8S2279;L18426;SHGC-53646 BC39498_3;FLJ90362 protein-coding ENSG00000197124 HGNC:28857 14282 VALIDATED 1601724 ZNF684 zinc finger protein 684 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; copper(2+) sulfate; ethyl methanesulfonate 1 1 1 p34.2 39279625 39296233 + 40997233 41013841 + 40531561 40548169 + 6480464 12477932;14702039;15489334;16710414;21832049 127396 B3KSP5;Q5T5D7;Q5T5D8;Q5T5D9 ABBA01023171;ABBA01023172;AK094072;AL356379;AMYH02000855;BC016016;BC091518;BC111463;BG116229;CH471059;NM_152373 AAH91518;AAI11464;ABZ92097;BAG52807;EAX07208;EAX07209;NP_689586;Q5T5D7 Hs.524767 1780100;1781520 SHGC-142455;SHGC-154417 MGC27466 OTTHUMP00000008480;OTTHUMP00000008481;OTTHUMP00000008482;hypothetical protein MGC27466 protein-coding ENSG00000117010 HGNC:28418 11328 VALIDATED 1602068 ZNF688 zinc finger protein 688 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH atrazine; diazinon; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p11.2 29714682 29717403 + 30580998 30585243 - 30569677 30572407 - 6480464 10493829;12477932;14702039;15489334;18976975;20562864;8889548 146542 H3BPA7;H3BR26;H3BR45;H3BTK8;P0C7X2 ABBA01042040;ABBA01042041;AC002310;AC243616;AF085979;AK122680;BC018997;BM011208;BQ188280;CH471192;NM_001024683;NM_145271;XM_005255138;XM_005255139;XM_005255140 AAH18997;ABZ92106;BAG53663;EAW52233;EAW52234;EAW52235;EAW52236;NP_001019854;NP_660314;P0C7X2;XP_005255195;XP_005255196;XP_005255197 Hs.301463 OTTHUMP00000163244 protein-coding HGNC:30489 14070 VALIDATED 1603925 ZNF689 zinc finger protein 689 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); skeletal muscle cell differentiation (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; methyl methanesulfonate 16 16 16 p11.2 29676732 29683727 + 30613879 30622096 - 30602558 30610775 - 6480464 12477932;14702039;15146197;15489334;16568080;16751776;20562864;21549307;21624362 115509 Q96CS4 AB065282;ABBA01042043;AC093249;AC243616;AF086510;AK074896;AK310459;AL834299;BC014000;CD243730;CH471192;CN406120;CQ756574;CQ783987;DA010230;DA485303;DB456506;HY005770;NM_138447;NR_073480;NR_073481;NR_073482;NR_104166 AAH14000;BAB83744;BAC11275;CAF32597;CAF86958;CAH56363;EAW52228;NP_612456;Q96CS4 Hs.454685 1685618;1690075;1737577 D16S2667;RH75465;SHGC-61056 DKFZp762C173;FLJ90415;TIPUH1 OTTHUMP00000163252;transcription-involved protein upregulated in HCC 1 protein-coding ENSG00000156853 HGNC:25173 14009 VALIDATED 1348158 ZNF69 zinc finger protein 69 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 19 19 19 p13.2 11893044 11919740 + 11998633 12025366 + 11887798 11914551 + 1580863;6480464;8554872 12477932;14702039;1639391 7620 C9JR48;Q9UC07 ABBA01029821;ABBA01029822;AC008770;AK001669;AMYH02035539;AW132096;BC051309;CA437198;CH471106;NM_021915;X60076;XM_005260058;XM_005260059;XM_005260060;XM_006722873;XM_006722874;XM_006722875 AAH51309;ABZ92442;CAC16147;EAW84248;EAW84249;EAW84250;NP_068734;Q9UC07;XP_005260115;XP_005260116;XP_005260117;XP_006722936;XP_006722937;XP_006722938 Hs.661955;Hs.735590 2180949;5015619;5022578;5022651;5117897 D11S2921;D11S3114;D1S1423;GDB:631813;RH36261 Cos5;MGC59928;hZNF3 OTTHUMP00000209829;OTTHUMP00000209830;OTTHUMP00000209831 protein-coding ENSG00000198429 HGNC:13138 11836 194543 VALIDATED 1606250 ZNF687 zinc finger protein 687 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleolus; nucleus; INTERACTS WITH 17beta-estradiol; diazinon; lead(0) 1 1 1 q21.3 124370082 124379672 + 151254094 151264381 + 151281618 151291905 + 6480464;8554872 10718198;12477932;14702039;15302935;15489334;16710414;16964243;17000644;17081983;17567994;18029348;19471022;20133760;21139048;21693764;22632162;22939629;23455922;23667531;23752268;24457600;24654937;25027693 57592 A2A3Q2;A6PVV7;F8WCX2;H0Y5I5;Q8N1G0 AB037862;ABBA01049390;AK023105;AL391069;AMYH02001877;AMYH02001878;BC020245;BC032463;CH471121;CR749307;DQ655935;NM_020832;XM_005245366;XM_005245368 AAH32463;ADZ15950;BAA92679;BAB14406;CAH18162;EAW53451;EAW53452;EAW53453;EAW53454;NP_065883;Q8N1G0;XP_005245423;XP_005245425 Hs.186756;Hs.225083 1799882;1800830;1800888;1801518;1801552;1802088;1804094;1804978;1805514;1824914;1825556;1828714;1836494;1925368;1925370;1925372;1925374;1925376;1925378;1925380;1925382;1925384;1925386;1925388;1925390;1925392;1925394;1925396;1925398;1925400;1925402;1925404;1925406;1925408;1925410;1925412;1925414;1925416;1925418;1925420;1925422;1925424;1925426;1925428;1925430;1925432;1925434;1925436;1925438;1925440;1925442;1925444;1925446;1925448;1925450;1925452;1925454;1925456;1925458;1925460;1925462;1925464;1925466;2131011;2143176;2154133;2170719;2184218;2207574;2207576;2207578;2207580;2207582;2207584;2207586;2207588;2207590;2207592;5015619;5037552 A002Y06;Cda0ff08;D11S3114;D8S2279;ECD00795;ECD01278;ECD01309;ECD01637;ECD01654;ECD01926;ECD02964;ECD03429;ECD03705;ECD13556;ECD13886;ECD15484;ECD19410;REN33509;REN33510;REN33511;REN33512;REN33513;REN33514;REN33515;REN33516;REN33517;REN33518;REN33519;REN33520;REN33521;REN33522;REN33523;REN33524;REN33525;REN33526;REN33527;REN33528;REN33529;REN33530;REN33531;REN33532;REN33533;REN33534;REN33535;REN33536;REN33537;REN33538;REN33539;REN33540;REN33541;REN33542;REN33543;REN33544;REN33545;REN33546;REN33547;REN33548;REN33549;REN33550;REN33551;REN33552;REN33553;REN33554;REN33555;REN33556;REN33557;REN33558;RH64621;WI-11473;WI-13356;stSG627073;stSG627074;stSG627075;stSG627076;stSG627077;stSG627078;stSG627079;stSG627080;stSG627081;stSG627082 DKFZp781I1719;KIAA1441;RP11-126K1.3 OTTHUMP00000014279;OTTHUMP00000014280;OTTHUMP00000014281 protein-coding ENSG00000143373 HGNC:29277 13859 610568 PROVISIONAL 1603045 ZNF691 zinc finger protein 691 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; atrazine; potassium chromate 1 1 1 p34.2 41594265 41600134 + 43312244 43318148 + 42846573 42852477 + 6480464 12477932;14702039;15489334;16169070;16341674;16710414;22505724;8619474;9110174 51058 Q5VV50;Q5VV51;Q5VV52 ABBA01050971;AF131739;AK000938;AK296201;AL512353;AMYH02000886;BC000157;BM741761;CH471059;CR457146;DC378862;NM_001242739;NM_015911;XM_006710671 AAD20028;AAH00157;ABZ92328;BAA91434;BAG58929;CAG33427;EAX07127;EAX07128;NP_001229668;NP_056995;Q5VV52;XP_006710734 Hs.20879;Hs.745530 1697136;2138285 RH102054;SHGC-74678 RP11-342M1.5;Zfp691 OTTHUMP00000008919;OTTHUMP00000008920;OTTHUMP00000008922 protein-coding ENSG00000164011 HGNC:28028 14229 VALIDATED 1605799 ZNF699 zinc finger protein 699 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 p13.2 9301432 9311241 - 9404246 9420390 - 9293570 9309714 - 6480464 12477932;14702039;15489334;16940975;21145461;22505724;24250222 374879 Q32M78 ABBA01029979;AC011451;AK095463;AMYH02035464;BC109267;BC109268;NM_198535;XM_005259897 AAI09268;AAI09269;BAC04552;NP_940937;Q32M78;XP_005259954 Hs.633842 5022651 D11S2921 FLJ38144;MGC129880;MGC129881;hang hangover homolog;hangover, Drosophila, homolog of protein-coding ENSG00000196110 HGNC:24750 609571 PROVISIONAL 1603938 ZNF697 zinc finger protein 697 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 3,3',4,4',5-pentachlorobiphenyl; aflatoxin B1 1 1 1 p12 118392735 118421117 - 120162000 120190813 - 119619377 119648190 - 6480464 12477932 90874 Q5TEC3;Q8N508 ABBA01068516;AK027019;AK311787;AL109966;AMYH02001817;BC007260;BC033126;BC063670;NM_001080470;XM_005271315;XM_006711032 AAH07260;AAH33126;BAG34730;NP_001073939;Q5TEC3;XP_005271372;XP_006711095 Hs.381105 1339954;1753027;2110567;2124028 AL009796;D1S185;MGC45731__7718;SHGC-77922 MGC45731 OTTHUMP00000015145 protein-coding ENSG00000143067 HGNC:32034 PROVISIONAL 1603629 ZNF695 zinc finger protein 695 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 3-methylcholanthrene; all-trans-retinoic acid; calcitriol 1 1 1 q44 220444806 220467515 - 247108849 247171395 - 246945547 247008093 - 6480464 12477932;15146197;15489334;16344560;16710414;22505724 57116 F2Z3A3;F6W2C3;Q8IW36 ABBA01031776;ABBA01031777;AC113174;AL512637;AMYH02003126;AMYH02003127;AMYH02003128;BC023527;BC041082;BC055096;BE743952;CA441360;CN394881;DA809929;NM_001204221;NM_020394;NR_037892 AAH41082;ABZ92358;ADR82705;NP_001191150;NP_065127;Q8IW36 Hs.669893 1687670 RH92233 MGC61907;RP11-551G24.1;SBZF3 OTTHUMP00000038468;OTTHUMP00000227865;OTTHUMP00000227866;OTTHUMP00000227867;OTTHUMP00000227868;zinc finger protein SBZF3 protein-coding ENSG00000197472 HGNC:30954 11534 VALIDATED 1605338 ZNF696 zinc finger protein 696 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; diazinon; hydrogen peroxide 8 8 8 q24.3 140682796 140691429 + 144371651 144382122 + 143291389 143299952 + 6480464 11181995;12477932;14702039;19322201 79943 E5RFI7;E5RG39;E5RH76;E5RH99;E5RJV3;Q9H7X3 ABBA01005261;AC138696;AK024191;AMYH02018937;BC126317;CH471162;NM_030895 AAI26318;BAB14850;EAW82267;EAW82270;NP_112157;Q9H7X3 Hs.512740 1664938;1684554;5016781 RH65208;RH80170;SHGC-67307 FLJ14129 OTTHUMP00000228018;OTTHUMP00000228020;OTTHUMP00000228022 protein-coding HGNC:25872 08595 VALIDATED 1604343 ZNF692 zinc finger protein 692 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; elemental selenium; selenium atom 1 1 1 q44 222305489 222314485 - 249144203 249153315 - 248850004 248859116 - 6480464;8554872 12477932;14702039;15489334;16344560;16710414;17097062;24250222;8125298 55657 E7ET73;E9PLQ5;E9PLQ7;E9PRH5;H0YCH4;H0YDF5;H0YEY1;Q9BU19 AB209706;ABBA01002095;AF256175;AK000538;AK001070;AK225535;AK298899;AK302187;AK309421;AL133100;AL672291;AMYH02003156;BC002948;CH471257;DA147512;DA319079;DA693598;DB520788;H07076;NM_001136036;NM_001193328;NM_017865;XM_006711783;XM_006711784;XM_006711785 AAG15327;AAH02948;BAA91239;BAA91490;BAD92943;BAG61010;BAG63552;CAB61410;EAW57539;EAW57540;EAW57541;EAW57542;NP_001129508;NP_001180257;NP_060335;Q9BU19;XP_006711846;XP_006711847;XP_006711848 Hs.377705 1337437;2138810 D1S3739;SHGC-76656 FLJ20531;Zfp692 AICAR responsive element binding protein;AREBP;OTTHUMP00000038242;OTTHUMP00000038243;OTTHUMP00000038244;OTTHUMP00000228860;OTTHUMP00000228864 protein-coding ENSG00000171163 HGNC:26049 07922 VALIDATED 1321655 ZNF7 zinc finger protein 7 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN multicellular organismal development (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene; cobalt dichloride; cyclosporin A 8 8 8 q24 142229496 142245171 + 146052855 146072893 + 144827470 144847508 + 1580863;6480464;8554872 10520746;12477932;14702039;15489334;16169070;1946370;19795399;2106481;22505724;2288909;9155018;9268371 7553 B4DWJ4;E9PIH3;E9PJX9;E9PJZ3;E9PM16;E9PPK0;E9PQI2;F5H290;P17097 AB209619;ABBA01005194;AF027146;AF235103;AI862153;AK096025;AK300001;AK301561;AK308002;AK313745;AMYH02019018;AMYH02019019;BC058923;BJ989518;BQ020963;BX647998;CH471162;DC301751;M29580;M77170;NM_001282795;NM_001282796;NM_001282797;NM_003416;U71599;X52335;XM_005272334;XM_006716653;XM_006716654;XM_006716655;XM_006716656 AAA36813;AAA61313;AAB16811;AAB84025;AAH58923;ABZ92245;BAC04677;BAD92856;BAG36485;BAG61820;BAG63056;CAA36561;EAW82038;EAW82039;EAW82040;EAW82041;EAW82042;NP_001269724;NP_001269725;NP_001269726;NP_003407;P17097;XP_005272391;XP_006716716;XP_006716717;XP_006716718;XP_006716719 Hs.493218 1778768;5014051;5016478;5022651;5037552;5109281 D11S2921;D1S1425;D8S2278;D8S2279;GDB:434012;RH71436 FLJ38706;HF.16;KOX4;zf30 C2-H2 type zinc finger protein;OTTHUMP00000228895;OTTHUMP00000228896;OTTHUMP00000228897;OTTHUMP00000228899;OTTHUMP00000228900;OTTHUMP00000228901;OTTHUMP00000228902;Zinc finger protein-7 (KOX4);zinc finger protein 7 (KOX 4, clone HF.16);zinc finger protein HF.16;zinc finger protein KOX4;zinc finger protein zfp30 protein-coding ENSG00000147789 HGNC:13139 01918 194531 VALIDATED 1351626 ZNF70 zinc finger protein 70 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid; diarsenic trioxide 22 22 22 q11.23 7922866 7932372 - 24083772 24093279 - 23741585 23751092 - 1580863;6480464 12477932;14702039;15461802;15489334;1639391;20211142 7621 Q9UC06 AB050771;ABBA01055120;AK122721;AMYH02038132;AMYH02038133;AP000348;BC040161;CH471095;CR456615;NM_021916;X60077 AAH40161;ABZ92443;BAB83033;BAG53688;CAC16148;CAG30501;CAK54649;CAK54948;EAW59597;NP_068735;Q9UC06 Hs.382874 1718345;2108679;5022200;5022649 D11S2875;L18426;RH122944;ZNF70_8739 Cos17;MGC48959 OTTHUMP00000198417;zinc finger protein N27C7-1 protein-coding ENSG00000187792 HGNC:13140 11837 194544 PROVISIONAL 1604763 ZNF700 zinc finger protein 700 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; benzene; formaldehyde 19 19 19 p13.2 11930275 11955954 + 12035883 12061588 + 11925068 11950773 + 6480464 11230166;12477932;22505724 90592 K7EQV7;Q9H0M5 ABBA01029818;ABBA01029819;ABBA01029820;AC008770;AK126871;AK308305;AL136732;AMYH02035539;BC111557;BC136777;BC144406;CH471106;DA794204;DB013169;NM_001271848;NM_144566 AAI36778;CAB66666;EAW84251;NP_001258777;NP_653167;Q9H0M5 Hs.528486 1773302;1850215;2181523;2220654;5093312;5114613;5121438 A009L16;G32644;RH78649;SHGC-36253;STS-N32752;STS-R67563;UniSTS:487149 DKFZp434I1610 OTTHUMP00000209858 protein-coding ENSG00000196757 HGNC:25292 10903 VALIDATED 1605331 ZNF702P zinc finger protein 702, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; cytarabine 19 19 19 q13.41 50519068 50544349 - 53471504 53496784 - 52968251 52993531 - 6480464 12477932;14702039 79986 Q9H963 ABBA01068228;ABBA01068229;ABBA01068230;AC010328;AK023047;AK092593;AL832505;AMYH02036417;BC032590;NR_003578 BAG52576;Q9H963 Hs.714428 1775778;2137478;2178274 D19S398;STS-AA005028;STS-W35282 FLJ12985;ZNF702 APPROVED pseudo ENSG00000242779 HGNC:25775 07806 VALIDATED 1603988 ZNF701 zinc finger protein 701 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH benzo[a]pyrene; copper(2+) sulfate; hydralazine 19 19 19 q13.41 50124380 50141292 + 53073526 53090427 + 52570273 52587174 + 6480464;8554872 12477932;14702039;15489334;18029348;19460752;21890473;22505724;23000965;24250222 55762 M0R085;M0R327;Q6NWZ7;Q9NV72 ABBA01068247;ABBA01068248;AC022150;AK001753;AMYH02036403;BC054884;BC067346;BC080612;BC131719;BC136425;BC136426;CH471135;NM_001172655;NM_018260 AAH54884;AAH67346;AAH80612;AAI31720;AAI36426;AAI36427;BAA91884;EAW72085;EAW72086;NP_001166126;NP_060730;Q9NV72 Hs.235167 1646567;1684178;2173688 RH93828;STS-R41911;WI-16992 FLJ10891 protein-coding ENSG00000167562 HGNC:25597 07709 VALIDATED 1602208 ZNF703 zinc finger protein 703 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); repressing transcription factor binding (inferred); INVOLVED IN cellular response to estradiol stimulus; mammary gland epithelial cell differentiation; negative regulation of transcription, DNA-templated; FOUND IN cytoplasm; nuclear matrix; nucleus; INTERACTS WITH 17beta-estradiol; afimoxifene; all-trans-retinoic acid 8 8 8 p11.23 36506270 36509365 + 37553301 37556396 + 37695783 37698878 + 6480464 12477932;14702039;15489334;15897872;19330026;20811636;21317240;21328542;21337521;22747683;22886885;23991038;24156016 80139 Q9H7S9 ABBA01023573;ABBA01023574;AC137579;AK024361;AMYH02017811;BC032534;BC084581;CH471080;NM_025069 AAH32534;AAH84581;BAB14897;EAW63370;NP_079345;Q9H7S9 Hs.744591 2152297 WI-11883 FLJ14299;ZEPPO1;ZNF503L;ZPO1 OTTHUMP00000225524;zinc finger elbow-related proline domain protein 1 protein-coding HGNC:25883 07855 PROVISIONAL 1605166 ZNF705B zinc finger protein 705B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 8 8 p23.1 7783859 7809935 + 7926337 7952413 + 14702039;16421571 100132396 P0CI00 AC130365;AK292586;NM_001193630 BAF85275;NP_001180559;P0CI00 Hs.546691 Putative zinc finger protein 705D-like protein LOC100132396;putative zinc finger protein 705B;zinc finger protein 705D-like protein-coding ENSG00000215356 HGNC:32284 VALIDATED 1604442 ZNF705C zinc finger protein 705C, pseudogene 8 8 8 p23.1 11257880 11262720 - 12211871 12219366 + 12354362 12361857 + 12477932 389631 ABBA01026873;AC087203;AC144830;AC243920;NG_005518 MGC131746;ZNF705CP APPROVED pseudo HGNC:32283 INFERRED 1605174 ZNF705A zinc finger protein 705A ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH atrazine; benzo[a]pyrene (ortholog); copper atom (ortholog) 12 12 12 p13.31 9901915 9909406 + 8290807 8332642 + 8172554 8180046 + 6480464 14702039;24250222 440077 B5MCH6;J3KPU9;Q6ZN79;U3KQ42 ABBA01012238;AC092111;AMYH02025988;CH471116;NM_001004328 EAW88624;NP_001004328;Q6ZN79 Hs.438536 5112119 SHGC-79779 FLJ16353 OTTHUMP00000239123;OTTHUMP00000239124 protein-coding ENSG00000196946 HGNC:32281 13364 VALIDATED 1605749 ZNF704 zinc finger protein 704 ENCODES a protein that exhibits metal ion binding (inferred); INTERACTS WITH afimoxifene; amiodarone; torcetrapib 8 8 8 q21.13 77545653 77791981 - 81540686 81787016 - 80628451 80874781 - 6480464 12477932;8889548 619279 E5RGL7;Q6ZNC4 ABBA01004057;ABBA01004058;ABBA01004059;ABBA01004060;ABBA01004061;AC022598;AC024367;AK131274;AMYH02018306;AMYH02018307;AMYH02018308;BC004287;BC017966;BC136844;BC136845;BM683148;BX112159;CH471068;NM_001033723;XM_005251279;XM_006716464 AAI36845;AAI36846;BAD18451;EAW87083;NP_001028895;Q6ZNC4;XP_005251336;XP_006716527 Hs.434957 1649988;1709302;1718535;1718587;1735796;1755089;1780112;2116887;2120051;2138312;2156842;2158263;2161578;2175590;2183565 D8S1095;D8S1395E;D8S1408E;RH122469;RH122498;RH12788;RH18330;RH45668;RH68638;SHGC-142021;SHGC-154425;SHGC-53169;SHGC-85851;STS-N33187;STS-N55108 FLJ16218;Gig1;MGC10858 OTTHUMP00000227340 protein-coding ENSG00000164684 HGNC:32291 VALIDATED 2299010 ZNF705D zinc finger protein 705D ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 8 8 8 p23.1 11258886 11262303 - 11946847 11973025 + 12089338 12115516 + 12477932;14702039 728957 P0CH99 AC130366;AC243920;AC244249;AMYH02017458;AMYH02017459;BC110823;NM_001039615 AAI10824;NP_001034704;P0CH99 Hs.652228 5112119 SHGC-79779 MGC131746;ZNF705C OTTHUMP00000229352;putative zinc finger protein 705C;zinc finger protein 705C protein-coding ENSG00000215343 HGNC:33202 VALIDATED 2311724 ZNF705G zinc finger protein 705G ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 8 8 8 p23.1 389 3133 + 7215498 7220490 - 7357954 7385558 - 16421571;23314748 100131980 A8MUZ8;P0CI00 ABBA01134830;AC130360;AC243982;AF252830;BE466749;BF509407;NM_001164457;XM_006716230;XM_006725062 A8MUZ8;NP_001157929;XP_006716293;XP_006725125 Hs.528391 OTTHUMP00000229572;putative zinc finger protein 705G;zinc finger protein 705G-like protein-coding HGNC:37134 VALIDATED 1602889 ZNF706 zinc finger protein 706 ENCODES a protein that exhibits metal ion binding (inferred); INTERACTS WITH atrazine; benzo[a]pyrene; capecitabine 8 8 8 q22.3 98394217 98402912 - 102209266 102218292 - 101197038 101206064 - 6480464 11042152;12477932;14702039;15489334;16344560;21107309;21832049;21917931;22939629;23000965;24250222 51123 E5RHR6;E5RHV4;E5RIY7;H0YAP1;H0YC70;Q9Y5V0 ABBA01037589;AF125099;AF275802;AF275809;AK027802;AK129859;AK290477;AMYH02018513;AP001330;AP003469;AV721205;BC015925;BC035233;BC068524;BG704587;BI669563;BI755311;CH471060;DB231109;DB549532;NM_001042510;NM_001267708;NM_001267709;NM_016096 AAD39916;AAG23816;AAG23820;AAH15925;AAH68524;ABZ92329;BAF83166;EAW91831;EAW91832;NP_001035975;NP_001254637;NP_001254638;NP_057180;Q9Y5V0 Hs.374485 1644717;1735808;2144677;5022712 9STS01;D8S1393E;D8S1421E;SHGC-76423 HSPC038;PNAS-106;PNAS-113 OTTHUMP00000227642;OTTHUMP00000227644;OTTHUMP00000227646;OTTHUMP00000227648;OTTHUMP00000227649;OTTHUMP00000227650;OTTHUMP00000227651 protein-coding ENSG00000120963 HGNC:24992 13688 VALIDATED 1342692 ZNF708 zinc finger protein 708 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH ethyl methanesulfonate; methyl methanesulfonate; quercetin 19 19 19 p12 21308892 21347129 - 21473963 21512219 - 21291161 21329425 - 1580863;6480464;8554872 14702039;15576338;1861988;2014798;22505724;2288909;7486829 7562 M0QYN4;M0R1G3;M0R2V2;P17019 ABBA01051370;ABBA01051371;AC022432;AK128184;AK131527;AK311130;AMYH02035802;AMYH02035803;BC039403;BX103920;BX647526;CD704852;CH471106;DA811084;DB216212;NM_001297560;NM_001297561;NM_021269;X52339;X59845;XM_006722872 AAI72244;AAI72551;BAD18665;CAA36565;EAW84891;EAW84892;NP_001284489;NP_001284490;NP_067092;P17019;XP_006722935 Hs.466296 2220430;2220626;5016596;5016865;5022322;5037552;5492395;7186918 D11S2560;D8S2279;ERV3;GDB:631802;RH39204;UniSTS:480893;UniSTS:481985;UniSTS:486333 DKFZp686L10267;FLJ16755;FLJ46310;KOX8;ZNF15;ZNF15L1 zinc finger protein 15;zinc finger protein 15-like 1 (KOX 8);zinc finger protein KOX8 protein-coding ENSG00000182141 HGNC:12945 18322 VALIDATED 1603343 ZNF707 zinc finger protein 707 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH aflatoxin B1; copper(2+) sulfate; menadione 8 8 8 q24.3 141077613 141088543 + 144766622 144777672 + 143684452 143695502 + 6480464;8554872 12477932;14702039;15489334;15489335;16189514;16344560;17207965;19447967 286075 E9PHZ0;E9PJ46;E9PKX4;E9PNV7;E9PP66;E9PPS7;E9PQ20;E9PS67;Q96C28 ABBA01005243;AC105219;AK001126;AK055198;AK055263;AK095138;AK290432;AMYH02018947;AW294133;BC014894;CH471162;CV023324;DA007942;DA188478;DA555314;DA917297;DA957023;DA990503;DB099015;DB106612;DB125792;DB249556;NM_001100598;NM_001100599;NM_001288805;NM_001288806;NM_001288807;NM_001288808;NM_001288809;NM_173831;NR_110190;NR_110191;NR_110192;NR_110193;XM_005250877;XM_005250878;XM_005250879;XM_005250881;XM_005250883;XM_005250886;XM_006716542;XM_006716543;XM_006725079;XM_006725080;XM_006725081;XM_006725082;XM_006725083;XM_006725084;XM_006725085;XM_006725086 AAH14894;ACE86646;ACE87328;ADQ32720;BAF83121;BAG51493;EAW82210;EAW82211;EAW82212;EAW82213;EAW82214;NP_001094068;NP_001094069;NP_001275734;NP_001275735;NP_001275736;NP_001275737;NP_001275738;NP_776192;Q96C28;XP_005250934;XP_005250935;XP_005250936;XP_005250938;XP_005250940;XP_005250943;XP_006716605;XP_006716606;XP_006725142;XP_006725143;XP_006725144;XP_006725145;XP_006725146;XP_006725147;XP_006725148;XP_006725149 Hs.521922 OTTHUMP00000228624;OTTHUMP00000228626;OTTHUMP00000228627;OTTHUMP00000228628;OTTHUMP00000228632;OTTHUMP00000228634;OTTHUMP00000228635;OTTHUMP00000228636;OTTHUMP00000228637 protein-coding ENSG00000181135 HGNC:27815 14162 VALIDATED 1605565 ZNF709 zinc finger protein 709 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH cadmium atom; trichostatin A; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.2 12465820 12489452 - 12571998 12595632 - 12461184 12484818 - 6480464 12477932;14702039;16344560;16737952;22505724;22797925 163051 H7C129;Q8N972 ABBA01029796;ABBA01029797;AC008758;AK290911;AMYH02035548;BC036481;BC038531;BC136746;BC136751;BQ027911;BX954970;CH471106;DA493682;DB443167;NM_152601 AAI36747;AAI36752;BAF83600;EAW84275;EAW84276;NP_689814;Q8N972 Hs.631623 1762365;2142230;2182423;5015961;5037552;5125447 D15S1477;D8S2279;L29650;SGC44256;SHGC-146195;SHGC-44256 FLJ38281 OTTHUMP00000209836;OTTHUMP00000209837;OTTHUMP00000221688 protein-coding ENSG00000196826;ENSG00000242852 HGNC:20629 08236 VALIDATED 1343724 ZNF71 zinc finger protein 71 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; cobalt dichloride; capsaicin (ortholog) 19 19 19 q13.4 54149654 54178220 + 57106664 57135550 + 56595296 56624182 + 1580863;6480464;8554872 11426589;12477932;14702039;15057824;1505991;15342556;15489334;1639391;18029348;1946370;20734064;21900206;23455924;23967269;24250222 58491 M0R0C0;Q9NQZ8 ABBA01020832;AC007228;AF269249;AK057019;AL137486;AMYH02036496;BC014280;BP377051;CH471135;M88357;NM_021216;X60074;XM_005259121;XM_006723315 AAA61315;AAD23608;AAF88036;AAH14280;CAC16174;EAW72467;EAW72468;NP_067039;Q9NQZ8;XP_005259178;XP_006723378 Hs.301431;Hs.600391 1651852;1658674;1783804;2111390 D19S611E;RH48260;SHGC-145271;STS-W55975 EZFIT;Kruppel-related zinc finger protein;endothelial zinc finger protein induced by tumor necrosis factor alpha protein-coding HGNC:13141 11838 194545 VALIDATED 1605220 ZNF713 zinc finger protein 713 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 7 7 7 p11.2 67033754 67061860 + 55955148 56008519 + 55912638 55940740 + 6480464;8554872 11181995;12477932;14702039;22505724 349075 F8WD84;Q8N859 ABBA01061839;ABBA01061840;ABBA01061841;AC092579;AC092647;AK097282;AMYH02015744;AMYH02015745;AMYH02015746;BC094796;CH471140;NM_182633 AAI46400;AAI48833;BAC04991;EAX07962;EAX07964;NP_872439;Q8N859 Hs.660834 5015619;5015861;5022200;5037552;7185938 D10S16;D11S3114;D8S2279;L18426 FLJ39963 OTTHUMP00000209316 protein-coding HGNC:22043 13440 PROVISIONAL 1606391 ZNF710 zinc finger protein 710 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 3-methylcholanthrene; amiodarone; benzo[a]pyrene 15 15 15 q26.1 67014271 67029357 + 90544197 90625432 + 90000965 90082200 + 6480464;8554872 12477932;14702039;15489334;8889548 374655 H0YKZ0;H0YLC4;H0YLZ7;Q8N1W2 ABBA01053035;ABBA01053036;ABBA01053037;ABBA01053038;ABBA01053039;AC087284;AK094712;AK160373;AL831826;AMYH02031032;AMYH02031033;AMYH02031034;AMYH02031035;AMYH02031036;BC020301;BC126476;BC130541;BM973240;NM_198526;XM_005254905;XM_005254906;XM_005254907;XM_006720498;XM_006720499 AAI26477;AAI30542;BAC04404;BAD18716;CAD38540;NP_940928;Q8N1W2;XP_005254962;XP_005254963;XP_005254964;XP_006720561;XP_006720562 Hs.459311 1730109;1736186;1739423;2132606;2148525;2152237;2166550;2171424;2171426 A002B10;D11S2326E;D15S136E;D15S638E;D15S889E;D15S890E;G19878;RH65651;RH77789 DKFZp547K1113;FLJ00306;FLJ37393;MGC163413 OTTHUMP00000194688 protein-coding ENSG00000140548 HGNC:25352 13329 VALIDATED 1347410 ZNF711 zinc finger protein 711 This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with mental retardation. [provided by RefSeq, Jul 2008] X X X q21.1 84738361 84767732 + 84498826 84528368 + 85243820 85273362 + 1580863;6480464;8699517;7240710;8554872 12477932;15161980;15489334;15772651;16344560;1923752;19377476;20346720;21384559;21890473;24250222;8733041;9491611 7552 Q6PK66;Q9Y462 ABBA01051654;ABBA01051655;ABBA01051656;ABBA01051657;ABBA01051658;AC003001;AK294953;AK299604;AK299933;AK308097;AMYH02039890;AMYH02039891;AY726603;BC006349;BC067294;BX648117;CH471104;DB074057;NG_012535;NM_021998;XM_005262186;XM_005262187;XM_005262188;XM_005262189;XM_006724687 AAH06349;AAH67294;BAG58028;BAG61535;BAG61766;EAW98563;EAW98564;EAW98565;EAW98566;NP_068838;Q9Y462;XP_005262243;XP_005262244;XP_005262245;XP_005262246;XP_006724750 Hs.326801 1337920;1648589;1652950;1849071;1849073;2150212;2220050;5491884 A001T09;AL022438;DXS1209;G19618;NIB1445;WI-14596;ZNF6__4707;ZNF711 CMPX1;MRX97;ZNF4;ZNF5;ZNF6;Zfp711;dJ75N13.1 OTTHUMP00000023623;OTTHUMP00000023624;OTTHUMP00000207244;dJ75N13.1 (znf6-like);zinc finger protein 6 (CMPX1) APPROVED protein-coding ENSG00000147180 HGNC:13128 02446 300803;314990 REVIEWED 1606958 ZNF714 zinc finger protein 714 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid; copper(2+) sulfate 19 19 19 p12 21099901 21142864 + 21264953 21307897 + 21082147 21125094 + 6480464 12477932;14702039;16341674;16344560;19322201;20211142;22505724 148206 M0QY60;Q96N38 ABBA01051365;ABBA01051366;ABBA01051367;ABBA01051368;AC010620;AC012627;AK056006;AK090987;AK125662;AMYH02035799;BC022527;BC037782;BC050468;BC064985;BM788748;CH471106;CN341038;DA026469;DB028091;KF573658;NM_182515;NR_117086;NR_117087;NR_117088 AAH37782;AAH50468;BAB71072;EAW84885;EAW84886;EAW84887;NP_872321;Q96N38 Hs.729186 5015861;5015881;5015961;5020740;5020948;5022200;5022322;5022425;5022450;5022578;5024413;5037552;5113020;5120437;5492395;7185938 D10S16;D10S275;D11S2560;D15S1477;D1S1423;D22S296;D8S2279;G35510;GDB:315881;GDB:335751;L17809;L17877;L18426;RH80873;UniSTS:480893 DKFZp547O168;FLJ33668;FLJ43674 protein-coding HGNC:27124 18733 VALIDATED 1605256 ZNF718 zinc finger protein 718 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH calcitriol; coumestrol; testosterone 4 4 4 p16.3 65319 97503 + 124420 156491 + 124452 163213 + 6480464 12477932;14702039;15489334;20080650;22505724 255403 A8WFQ3;Q3SXZ3;Q658L4;Q8N2R1 ABBA01019323;AC118278;AC253576;AI367791;AK074517;AK096662;AL833758;AMYH02008546;AMYH02008547;BC020836;BC047874;BC052600;BC104026;BC104027;BC104028;BC104029;BC154406;CA411757;CH471131;CN265977;CN413889;DA386535;DB073415;N73572;NM_001039127;NM_001289930;NM_001289931;NR_110527;NR_110528;NR_110529;XM_005278364 AAH52600;AAI04027;AAI04028;AAI04029;AAI04030;AAI54407;BAC11034;CAH56238;EAW82674;NP_001034216;NP_001276859;NP_001276860;Q3SXZ3;XP_005278421 Hs.636638;Hs.724954;Hs.745062;Hs.745417 1644412;1653823;1675676;1732053;1848906;2157576;2220626;5014051;5015619;5022200;5022578;5037552;5093958 A009Z30;D11S3114;D1S1423;D4S1655;D8S2278;D8S2279;G33023;L18426;RH36273;SHGC-24777;SHGC-32625;SHGC-67339;UniSTS:486333 FLJ90036 protein-coding ENSG00000250312 HGNC:26889 08291 VALIDATED 2301487 ZNF720P1 zinc finger protein 720 pseudogene 1 16 16 16 p11.2 28693939 28695347 + 31613440 31614849 - 31602119 31603528 - 342426 ABBA01042099;AC106730;AMYH02031854;NG_008699 1713003 RH120592 pseudo HGNC:34505 INFERRED 1602613 ZNF716 zinc finger protein 716 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 7 7 7 p11.2 56234465 56257848 + 57509883 57533265 + 57450177 57473559 + 6480464;8554872 12853948;14702039;22505724;23314748;24376456 441234 A6NP11 ABBA01028302;ABBA01028303;ABBA01028304;AC073057;AC092175;AK131575;AMYH02015779;NM_001159279;XR_246512 A6NP11;NP_001152751 Hs.533121 1338911;1658196;1719131;5015861;5016596;5020948;5024761;5037552;7185938 D10S16;D7S2719;D7S494;D8S2279;G35510;GDB:631802;RH123283;RH36905 FLJ46189 OTTHUMP00000210411 protein-coding ENSG00000182111 HGNC:32458 VALIDATED 2299178 ZNF720 zinc finger protein 720 ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 16 16 16 p11.2 28535933 28584257 - 31718741 31772886 + 31709820 31761565 + 6480464;8554872 12477932;16344560;18187620;21832049;22505724;8889548 124411 E9PKP5;E9PLE2;E9PMU6;E9PRX5;F5GWD4;F8WER7;Q7Z2F6 ABBA01042102;AC002519;AC074050;AK128671;AL832197;AMYH02031856;BC018134;BC055408;BU742282;CH471192;DA376736;NM_001130913;XM_005255122 AAH18134;AAH55408;EAW52108;EAW52109;EAW52110;NP_001124385;Q7Z2F6;XP_005255179 Hs.528826 1687578;1713003;1739431;5020740 D16S2933E;L17809;RH120592;RH98223 MGC62019;MGC9313 OTTHUMP00000236077;OTTHUMP00000236165;putative protein ZNF720 protein-coding ENSG00000197302 HGNC:26987 14026 VALIDATED 1602425 ZNF721 zinc finger protein 721 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH atrazine; clorgyline; formaldehyde 4 4 4 p16.3 375488 435144 - 433773 492960 - 439984 499171 - 6480464;8554872 11853319;14702039;16344560;21890473;22505724 170960 B4E159;D6RGC2;E5RGH0;Q8TF20 AB075862;ABBA01019328;AC092574;AI223001;AK021514;AK092362;AK095558;AK095689;AK127067;AK128499;AL834155;AMYH02008553;AMYH02008554;CH471131;DA309597;HY075884;KF457728;NM_133474 BAB85568;CAH10687;EAW82668;NP_597731;Q8TF20 Hs.428360;Hs.724168;Hs.745030 1657159;2180166;5015879;5022322;5024756;5037552 D11S2560;D8S2279;GDB:314949;RH36065;RH80030;SHGC-67853 FLJ11452;KIAA1982 OTTHUMP00000216854;OTTHUMP00000225095 protein-coding HGNC:29425 13910 VALIDATED 1601665 ZNF723P zinc finger protein 723, pseudogene 19 19 19 p12 22860914 22875826 + 23015104 23041173 + 22832302 22858371 + 15869325 646864 ABBA01051420;AC008626;AC022145;AMYH02035832;CH471106;DQ048837;NG_029131 EAW84931 1750663 SHGC-111976 ZNF723 APPROVED pseudo HGNC:32286 INFERRED 1606870 ZNF717 zinc finger protein 717 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); aflatoxin B1 (ortholog) 3 3 3 p12.3 76529798 76578039 - 75785868 75834709 - 75736717 75785558 - 6480464;8554872 12477932;14702039;16344560;16641997;21282530;22505724 100131827 C9J5W8;C9J8I7;C9JVC3;E5RKB3;Q9BY31 ABBA01030991;ABBA01030992;ABBA01030993;AC108724;AC133123;AC245159;AF226994;AK123776;BQ189284;BQ928230;BX091527;DA618280;DB079386;DB491038;DR006008;HY057162;NM_001128223;NM_001290208;NM_001290209;NM_001290210;XM_005264710;XM_005264711;XM_005264712;XM_005264713;XM_006712910;XM_006712911;XM_006712912;XM_006712913 AAK28319;NP_001121695;NP_001277137;NP_001277138;NP_001277139;Q9BY31;XP_005264767;XP_005264768;XP_005264769;XP_005264770;XP_006712973;XP_006712974;XP_006712975;XP_006712976 Hs.556877 5492453 UniSTS:481117 FLJ41782;X17;ZNF838 OTTHUMP00000213789;OTTHUMP00000213790;OTTHUMP00000213792;krueppel-like factor X17;kruppel-like zinc finger factor X17;zinc finger protein 838 protein-coding HGNC:29448 VALIDATED 1603876 ZNF725P zinc finger protein 725, pseudogene 19 19 19 p12 23509473 23525489 - 23672668 23688784 - 23489866 23505982 - 15057824 100128853 ABBA01051434;AC011493;AC074140;AMYH02035842;CH471106;NG_011783 EAW84942 ZNF725 APPROVED pseudo HGNC:32461 INFERRED 1601785 ZNF724P zinc finger protein 724, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p12 23235962 23264731 - 23406607 23433172 - 23223805 23250370 - 6480464 440519 A8MTY0;M0R0Z7;M0R3J2 ABBA01051428;AC092329;AK301230;AMYH02035835;AMYH02035836;DC372621;DC391309;NR_045525 A8MTY0;BAG62802 Hs.675814 2220430;2220626;7186918 ERV3;UniSTS:481985;UniSTS:486333 APPROVED pseudo HGNC:32460 PROVISIONAL 1345229 ZNF726P1 zinc finger protein 726 pseudogene 1 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred) 19 19 19 p13.1 23855747 23855935 + 24015084 24015272 + 23832282 23832470 + 1580863 1505991;1946370 7618 Q15940 ABBA01051446;AC139769;AMYH02035848;M88376;NG_008024 AAA61334;Q15940 ZNF67;ZNF67P APPROVED pseudo HGNC:13136 INFERRED 1349986 ZNF70P1 zinc finger protein 70 pseudogene 1 6 6 6 p21.32 34737715 34738324 + 33183351 33183960 + 33215574 33216183 + 100419609 ABBA01038138;AL645940;AL713971;AL844527;AMYH02013481;BX248408;CR547129;CR759733;CR759786;NG_025932 ZNF314P;bCX269C15.3;dJ1033B10.7 APPROVED pseudo HGNC:13846 INFERRED 5476602 ZNF705E zinc finger protein 705E ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 11 11 11 q13.4 4438 21358 + 71525091 71532593 - 71814045 71821547 - 16554811 100131539 A8MWA4 ABBA01017546;AMYH02025068;AP002495;NM_001278713 A8MWA4;NP_001265642 putative zinc finger protein 705E protein-coding HGNC:33203 INFERRED 1601664 ZNF726 zinc finger protein 726 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p12 23941919 23950752 + 24097684 24116769 + 23914882 23933967 + 6480464 12477932;15146197;15869325;21890473;22505724 730087 A6NNF4;E9PLI7;F1T0F3;J3KNQ9 ABBA01051448;AC011503;AMYH02035849;BC046415;BE783649;BX475164;CN359557;DQ036016;NM_001244038 A6NNF4;AAH46415;NP_001230967 Hs.655305 5015881;5022588;5024039;5037552;5117897 D16S325;D5S1597E;D8S2279;GDB:335751;GDB:631813 OTTHUMP00000236436;OTTHUMP00000236437 protein-coding HGNC:32462 INFERRED 1603326 ZNF728 zinc finger protein 728 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 p12 22989456 23017530 - 23157685 23186010 - 22973664 23003208 - 6480464;8554872 12477932;14702039;21139048;23897914 388523 M0QZ07;P0DKX0 ABBA01051424;AC011502;AC022145;AC074135;AMYH02035832;BC128130;BC128131;DA326735;DB076533;NM_001267716;XM_006722750 NP_001254645;P0DKX0;XP_006722813 Hs.616766 1704352;2220626;5038480 RH70673;SHGC-78166;UniSTS:486333 zinc finger protein 43 protein-coding HGNC:32463 VALIDATED 5133819 ZNF729 zinc finger protein 729 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 p12 22301775 22332503 + 22469252 22499978 + 22286450 22317176 + 6480464;8554872 15057824;17974005 100287226 A6NN14 ABBA01051405;AC011494;AC073539;AMYH02035819;AMYH02035820;BX956721;CH471106;NM_001242680;XM_006722601 A6NN14;EAW84919;NP_001229609;XP_006722664 Hs.531629 1339652 D19S568 protein-coding ENSG00000196350 HGNC:32464 VALIDATED 2301494 ZNF727P zinc finger protein 727, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); arsenite(3-) (ortholog) 7 7 7 q11.21 57224660 57257774 + 63505765 63544444 + 64045443 64085339 + 6480464;8554872 12853948;16344560;21890473;22505724;9847074 442319 A8MUV8 ABBA01027969;AC115220;AMYH02015848;CH471204;DA235663;NM_001159522;XR_242241 A8MUV8;EAW77955;NP_001152994 Hs.640774 1739001 DYS396 ZNF727 putative zinc finger protein 727;zinc finger protein 727 pseudogene APPROVED protein-coding ENSG00000214652 HGNC:22785 PROVISIONAL 1350696 ZNF73 zinc finger protein 73 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene p 1580863;6480464 1639391;9337403 7624 O43830 X60075;Y10929 CAA71860;CAC16146;O43830 Cos12;ZNF186;hZNF2 zinc finger protein 186 protein-coding HGNC:13143 194547 6482639 ZNF731P zinc finger protein 731, pseudogene INTERACTS WITH copper atom; copper(0); copper(2+) sulfate 1 1 1 q44 220649608 220650712 - 247353213 247354317 - 247189911 247191015 - 6480464 729806 ABBA01031782;AL390728;AMYH02003132;NG_022762 1712667;2174849 RH121998;SHGC-76645 ZNF731 pseudo HGNC:32471 INFERRED 2311726 ZNF732 zinc finger protein 732 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 4 4 4 p16.3 205451 240809 - 264464 299110 - 270675 305321 - 6480464 11181995;22505724;22542470 654254 B4DXR9 ABBA01019326;AC079140;AK302099;AMYH02008549;CH471131;NM_001137608 B4DXR9;BAG63481;EAW82672;NP_001131080 Hs.698668 FLJ59067 OTTHUMP00000216853;zinc finger protein LOC654254 protein-coding ENSG00000186777 HGNC:37138 PROVISIONAL 2293897 ZNF730 zinc finger protein 730 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-) 19 19 19 p12 23131471 23161066 + 23299777 23330014 + 23116975 23149961 + 6480464 22505724 100129543 M0QYG2;M0QYI4;Q6ZMV8 ABBA01051426;AC092329;AC124856;AK131472;AMYH02035834;CH471106;NM_001277403;XM_006722596 BAD18617;EAW84934;NP_001264332;Q6ZMV8;XP_006722659 Hs.427120 1687802;2220430;7186918 ERV3;RH91862;UniSTS:481985 putative zinc finger protein 730 protein-coding ENSG00000183850 HGNC:32470 VALIDATED 6483723 ZNF734P zinc finger protein 734, pseudogene 7 7 q11.21 62904563 62917271 + 63444185 63456893 + 12853948 644017 AC006457;AC073188;AMYH02015840;NG_009437 1774369 D7S1945 ZNF734 pseudo HGNC:32465 INFERRED 4110550 ZNF736P10Y zinc finger protein 736 pseudogene 10, Y-linked Y Y Y 933777 934849 + 8286892 8287964 - 8418851 8419923 - 100419727 ABBA01060233;AC025731;NG_024764 2187967 G66129 pseudo HGNC:38410 INFERRED 4110546 ZNF736P11Y zinc finger protein 736 pseudogene 11, Y-linked Y Y Y 10818394 10819485 - 25012808 25013899 - 22866661 22867752 - 100419730 AC006366;NG_024779 pseudo HGNC:38426 INFERRED 3378506 ZNF736 zinc finger protein 736 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 7 7 7 q11.21 57492820 57529656 + 63767815 63810017 + 64307437 64349639 + 6480464;8554872 12477932;14702039;16344560;21890473;22505724;24250222 728927 B4DX44 ABBA01027976;AC073270;AK125478;AK126370;AK301806;AMYH02015848;BC031335;BC041401;BX955073;CH471204;DB048979;DQ570791;NM_001170905;NM_001294255;XM_006716104 B4DX44;BAG63256;EAW77963;EAW77965;NP_001164376;NP_001281184;XP_006716167 Hs.386162;Hs.734771 1783042;2220430 SHGC-144434;UniSTS:481985 DKFZp781H0161 KRAB-containing zinc-finger repressor protein;OTTHUMP00000210082 protein-coding ENSG00000234444 HGNC:32467 VALIDATED 4110545 ZNF736P12Y zinc finger protein 736 pseudogene 12, Y-linked Y Y Y 10818394 10819485 - 26646557 26647648 - 24500410 24501501 - 100419731 AC016698;NG_024785 pseudo HGNC:38431 INFERRED 3277907 ZNF736P1Y zinc finger protein 736 pseudogene 1, Y-linked Y Y q11.23 27131350 27136514 - 24985203 24990367 - 442486 AC006338;NG_004755 ZNF736P1;ZNF736PY1 pseudo HGNC:37726 VALIDATED 3437022 ZNF736P2Y zinc finger protein 736 pseudogene 2, Y-linked Y Y q11.23 26825884 26831002 + 24679737 24684855 + 392603 AC025735;NG_004755 ZNF736P2;ZNF736PY2 pseudo HGNC:37727 VALIDATED 1349378 ZNF736P3Y zinc finger protein 736 pseudogene 3, Y-linked Y Y q11.223 25196182 25197315 + 23050035 23051168 + 12815422;9847074 246123 AC010088;NG_004755 ZNF381P;ZNF736P3;ZNF736PY3 APPROVED pseudo HGNC:37728 VALIDATED 5131592 ZNF736P4Y zinc finger protein 736 pseudogene 4, Y-linked Y Y 27315359 27316340 + 25169212 25170193 + 100419735 AC006386;AC016728;NG_004755 pseudo HGNC:38464 VALIDATED 1346249 ZNF72P zinc finger protein 72, pseudogene 22 q11.1 16634990 16652137 + 1580863 1639391 100287084 Q9UC05 AP000541;X60078 CAC16145 Cos8;ZNF72 zinc finger protein 72 APPROVED pseudo HGNC:13142 194546 4110544 ZNF736P6Y zinc finger protein 736 pseudogene 6, Y-linked Y Y Y 1001672 1002773 - 8218960 8220061 + 8350919 8352020 + 100419732 AC025731;NG_024791 2187949 G66119 pseudo HGNC:38440 INFERRED 4110548 ZNF736P7Y zinc finger protein 736 pseudogene 7, Y-linked Y Y Y 1361823 1362728 + 7858984 7859889 - 7990943 7991848 - 100419725 ABBA01060183;AC010902;NG_024762 pseudo HGNC:38404 INFERRED 4110549 ZNF736P8Y zinc finger protein 736 pseudogene 8, Y-linked Y Y Y 1439541 1440242 + 7781475 7782176 - 7913434 7914135 - 100419724 ABBA01060177;AC010678;NG_024761 pseudo HGNC:38406 INFERRED 4110547 ZNF736P9Y zinc finger protein 736 pseudogene 9, Y-linked Y Y Y 1283552 1284676 + 7937035 7938159 - 8068994 8070118 - 100419726 ABBA01060189;AC010902;AC016749;NG_024763 2187949 G66119 pseudo HGNC:38408 INFERRED 1626257 ZNF735 zinc finger protein 735 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 7 7 7 q11.21 57386676 57400338 + 63667581 63680668 + 64207203 64220290 + 6480464 12853948;20379614;22505724 730291 P0CB33 ABBA01027974;ABBA01027975;AC073270;AC104094;AMYH02015848;NM_001159524 NP_001152996;P0CB33 Hs.723116 1658065;1681805;1767616 D7S1758;GDB:1234260;RH98605 ZNF735;ZNF735P putative zinc finger protein 735;zinc finger protein 735 pseudogene;zinc finger protein 735, pseudogene APPROVED protein-coding HGNC:32466 INFERRED 2304144 ZNF738 zinc finger protein 738 ENCODES a protein that exhibits ubiquitin-protein transferase activity (ortholog); INVOLVED IN protein polyubiquitination (ortholog); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p12 21376460 21406112 + 21541735 21571384 + 21358933 21388582 + 6480464 12477932;14702039;15489334;21906983 148203 E9PE46;M0R024;M0R0N2;M0R3I0;Q8NE65 AA831708;ABBA01051373;AC010615;AC022432;AK027579;AK291002;AK291193;AMYH02035803;AMYH02035804;BC034499;NR_027130 BAF83691;BAF83882;BAG51352;Q8NE65 Hs.124384 pseudo HGNC:32469 VALIDATED 1625854 ZNF737 zinc finger protein 737 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (S)-nicotine; arsenite(3-); copper(2+) sulfate 19 19 19 p12 20554891 20583043 - 20714067 20748626 - 20531261 20565820 - 6480464 11181995;12477932;15489334;16344560;22505724;8467795 100129842 M0QZS4;M0R1D1;M0R1M3;M0R1M8;O75373 ABBA01051357;AC008554;AC010636;AF044026;AI857360;AMYH02035788;AMYH02035789;CH471106;DA043454;NM_001159293;XM_005259697;XM_005259698;XM_005259699;XM_005259700;XM_006722597;XM_006722598;XM_006722599 AAC25694;EAW84877;NP_001152765;O75373;XP_005259754;XP_005259755;XP_005259756;XP_005259757;XP_006722660;XP_006722661;XP_006722662 Hs.515696 1666216;2220430;5015879;5021872;5022200;5022450;5022651;5037552;5091413;5109281 D10S275;D11S2921;D1S1425;D8S2279;GDB:314949;L18426;RH65402;STS-N35025;UniSTS:481985;sY3084 ZNF102 zinc finger protein 102 (Y3) protein-coding HGNC:32468 603984 VALIDATED 1626267 ZNF742 zinc finger protein 742 p12 730008 XM_001132067 XP_001132067 Hs.675378 protein-coding HGNC:32285 1603524 ZNF740 zinc finger protein 740 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH potassium dichromate; torcetrapib; valproic acid 12 12 12 q13.13 53223138 53233257 + 53574535 53584654 + 53180751 53190870 + 6480464;8554872 12477932;14702039;15489334;16964243;18482256;21832049;21890473;23000965;24250222;24457600 283337 Q8NDX6 ABBA01008317;AC021072;AC068889;AC073573;AC073611;AF086252;AJ316575;AK091946;AK292744;AMYH02026515;BC053557;CH471054;NM_001004304;XM_006719344 AAH53557;BAF85433;CAC86954;EAW96673;EAW96674;NP_001004304;Q8NDX6;XP_006719407 Hs.524458 1647991;1666823;1669254;1678591;1699524;1772186 BCD2019;RH103357;RH80407;SHGC-57466;SHGC-63594;STS-AA019740 MGC61706;Zfp740 OTTHUMP00000242630;oriLyt TD-element-binding protein 7 protein-coding HGNC:27465 17329 VALIDATED 1353341 ZNF74 zinc finger protein 74 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); RNA binding (inferred); INVOLVED IN multicellular organismal development (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN actin cytoskeleton; nucleus; INTERACTS WITH (+)-catechin; aflatoxin B1; valproic acid 22 22 22 q11.21 4235241 4249494 + 20748405 20762753 + 20394115 20408463 + 1580863;6480464;8554872 10585771;10591208;11313019;11705709;12477932;12684500;15461802;16344560;1639391;18029348;22505724;22939624;24250222;8268910;8663113;9346935 7625 A8K5P3;B5MDQ6;C9J3V1;F8WDT0;Q05BG0;Q16587 AB209663;ABBA01015456;AC007731;AF072567;AK128267;AK291358;AK299569;AMYH02038075;BC013395;BC013741;BC048295;BC056902;BG912037;CH471176;CR456616;DA576206;DA791304;NM_001256523;NM_001256524;NM_001256525;NM_003426;NR_046282;X63182;X71623;X92715 AAF21777;AAF21778;AAF21779;AAF21780;AAH13395;AAH48295;BAD92900;BAF84047;BAH13068;CAA50632;CAA63379;CAC16149;CAG30502;CAK54640;CAK54939;EAX02967;EAX02968;EAX02969;EAX02970;NP_001243452;NP_001243453;NP_001243454;NP_003417;Q16587 Hs.517418 1645878;1697468;2110833;5015619 D11S3114;RH102235;SHGC-31580;ZNF74__4718 Cos52;ZNF520;Zfp520;hZNF7 OTTHUMP00000198254;OTTHUMP00000198271;OTTHUMP00000198274;OTTHUMP00000199826;zinc finger protein 520 protein-coding ENSG00000185252 HGNC:13144 01928 194548 VALIDATED 1606138 ZNF746 zinc finger protein 746 ENCODES a protein that exhibits sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; ubiquitin protein ligase binding; INVOLVED IN negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-templated; positive regulation of neuron death; ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm; INTERACTS WITH 2-methylcholine; benzo[a]pyrene; copper(2+) sulfate 7 7 7 q36.1 143839142 143864156 - 149169884 149194928 - 149472793 149497837 - 6480464;8554872 12477932;14702039;15489334;19322201;19451621;21376232;21693764;21833088;21900206;24145959 155061 C9JNZ9;Q6NUN9 ABBA01033632;AC004932;AC073314;AI991498;AK055975;AK128244;AK291814;AMYH02017049;BC031968;BC035586;BC068505;BM512385;CH471146;NM_001163474;NM_152557;XM_005249955;XM_005249956;XM_005249957 AAH68505;BAB71061;BAC87351;BAF84503;EAW80042;EAW80043;NP_001156946;NP_689770;Q6NUN9;XP_005250012;XP_005250013;XP_005250014 Hs.24643 1846714;2119070 GDB:4585513;SGC36847 FLJ31413 OTTHUMP00000213768;PARIS;parkin-interacting substrate;parkin-interacting sustrate protein-coding ENSG00000181220 HGNC:21948 08099 613914 VALIDATED 1602862 ZNF750 zinc finger protein 750 This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 77382410 77393031 - 80787310 80797931 - 82829434 82840055 - 6480464;7240710;8699517;8554872 12477932;14702039;15489334;16344560;16751772;18256691;22185198;22364861;22936986;24250222 79755 I3L0W7;Q32MQ0 ABBA01019706;ABBA01019707;AC068584;AI539029;AK023903;AK301690;AMYH02034174;BC109036;BC109037;CH471099;CO245511;DA433713;DA872185;NG_011604;NG_011721;NM_024702 AAI09037;AAI09038;BAB14718;BAG63162;EAW89824;NP_078978;Q32MQ0 Hs.464391;Hs.653124 FLJ13841;FLJ51362;MGC125667;MGC125668;Zfp750 APPROVED protein-coding ENSG00000141579 HGNC:25843 08588 610226;610227 REVIEWED 7070414 ZNF733P zinc finger protein 733, pseudogene 7 7 7 q11.21 55907896 55919862 - 62751665 62764434 - 63291287 63304056 - 12477932;12853948 643955 ABBA01028297;ABBA01028298;AC006455;AMYH02015808;AMYH02015809;AMYH02015810;AMYH02015811;BC089392;NR_003952 Hs.583308 1705446;1757509;1774369;2143509;5095530 D7S1945;GDB:1317750;RH121583;SHGC-144883;SHGC-83805 ZNF733 pseudo ENSG00000185037 HGNC:32473 VALIDATED 1603829 ZNF749 zinc finger protein 749 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); acetazolamide (ortholog) 19 19 19 q13.43 54990393 55000893 + 57946693 57957291 + 57435325 57445923 + 6480464;8554872 14702039;15057824;16344560;17567985;22505724 388567 C9J756;O43361 ABBA01020808;AC004076;AK122740;AK122794;AMYH02036517;BP872084;CH471135;DB099619;NM_001023561;XM_006723211;XM_006723212 AAB97932;EAW72501;EAW72502;NP_001018855;O43361;XP_006723274;XP_006723275 Hs.467358 FLJ16263;FLJ16360 OTTHUMP00000197237 protein-coding ENSG00000186230 HGNC:32783 18610 PROVISIONAL 1602103 ZNF747 zinc finger protein 747 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); INTERACTS WITH cadmium atom; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 16 16 16 p11.2 29752216 29755631 + 30541688 30546345 - 30530367 30535022 - 6480464 10493829;12477932;14702039;18976975;19322201;20211142;20562864;24250222 65988 B7Z5R0;Q9BV97 AB209546;ABBA01042036;AC002310;AC243616;AK054567;AK292192;AK299308;AK316254;BC001361;CH471192;NM_023931;XM_005255509;XM_005255510 AAH01361;BAB70760;BAD92783;BAF84881;BAH12996;BAH14625;EAW52239;EAW52240;NP_076420;Q9BV97;XP_005255566;XP_005255567 Hs.592032 5037552 D8S2279 MGC2474 KRAB domain-containing protein ZNF747;OTTHUMP00000163234;OTTHUMP00000163235 protein-coding HGNC:28350 14498 PROVISIONAL 1350509 ZNF75BP zinc finger protein 75B, pseudogene 12 12 12 q13 43204702 43207644 - 44401376 44404318 - 44007573 44010515 - 8661144 7628 ABBA01031426;AC024934;AC076972;AMYH02026385;NG_001214;X91827 ZNF75B APPROVED pseudo HGNC:13147 INFERRED 1346975 ZNF75A zinc finger protein 75a ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 16 16 16 p13.3 3561095 3574238 + 3355406 3372935 + 3305406 3312365 + 1580863;6480464 12477932;14702039;15489334;16344560;18029348;21832049;8661144 7627 I3L2I5;Q68CU0;Q96N20 ABBA01026739;AC004232;AC025283;AK056091;AK093979;AMYH02031288;BC039601;BC051366;BC119652;BC119653;BC150306;BX324672;CH471112;CR749782;DA735154;DB249528;NM_001302109;NM_153028;NR_126069;X91826;XM_006720994 AAH51366;AAI19653;AAI19654;BAB71092;CAA62935;CAH18648;EAW85374;EAW85375;EAW85376;EAW85377;NP_001289038;NP_694573;Q96N20;XP_006721057 Hs.513292 1687141;1689759;1754743;2120925;2129739;2158130;5016596;5020948;5109281;5118444 D11S3316;D1S1425;G35510;GDB:631802;RH45212;RH65204;RH69709;SHGC-133103;SHGC-60769;SHGC-64870 FLJ31529;MGC59959 OTTHUMP00000159717 protein-coding ENSG00000162086 HGNC:13146 03278 601473 VALIDATED 1603831 ZNF761 zinc finger protein 761 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); clofibrate (ortholog) 19 19 19 q13.42 50976632 51002936 + 53935227 53961515 + 53431974 53458261 + 6480464;8554872 12477932;14702039;16344560;21890473;22082156;22505724;23000965;24250222;8889548 388561 Q6IQ01;Q86XN6 AB107355;ABBA01068215;AC022137;AK092652;AK131281;AMYH02036425;BC071639;BC103708;BM977910;DA237674;DB232487;KF495723;NM_001008401;NM_001289951;NM_001289952;NM_001289953;NR_110551 AAH71639;BAC67660;BAD18456;NP_001008401;NP_001276880;NP_001276881;NP_001276882;Q86XN6 Hs.433293 1775778;5015619;5022200;5038480 D11S3114;D19S398;L18426;RH70673 FLJ16231;FLJ35333;KIAA2033;MGC87789;ZNF468 zinc finger protein 468 protein-coding ENSG00000160336 HGNC:23179 16912 VALIDATED 1606477 ZNF764 zinc finger protein 764 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; cobalt dichloride; formaldehyde 16 16 16 p11.2 29728768 29733325 + 30565085 30569642 - 30553764 30558321 - 6480464 12477932;14702039;15489334;16189514;19322201;20562864;22577170 92595 Q96H86 ABBA01042038;AC002310;AC243616;AK093992;BC000016;BC008821;BF725095;CH471192;NM_001172679;NM_033410 AAH00016;AAH08821;ABZ92086;ADZ15930;BAG52794;EAW52237;EAW52238;NP_001166150;NP_219363;Q96H86 Hs.132227 1700106;2120764;5022578 D1S1423;RH103666;SHGC-36123 MGC13138 OTTHUMP00000163241;OTTHUMP00000163242 protein-coding ENSG00000169951 HGNC:28200 10072 VALIDATED 1604484 ZNF763 zinc finger protein 763 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH atrazine; trichostatin A; valproic acid 19 19 19 p13.2 11970248 11985589 + 12075796 12091214 + 11965054 11980399 + 6480464 12477932;14702039;1505991;1946370;22505724;23449627 284390 F5H0A9;K7EJ80;K7EJF3;K7ESF6;Q0D2J5 ABBA01029817;AC008770;AK092240;AK299182;AK299224;AMYH02035539;BC105711;BC105712;BC105713;CH471106;M88364;NM_001012753 AAA61322;AAI05712;AAI05713;AAI05714;BAG52505;BAG61227;BAG61259;EAW84252;NP_001012771;Q0D2J5 Hs.646386 5121438 STS-N32752 ZNF;ZNF440L DNA-binding protein;OTTHUMP00000209874;OTTHUMP00000209875;zinc finger protein 440 like protein-coding ENSG00000197054 HGNC:27614 18509 VALIDATED 1314742 ZNF76 zinc finger protein 76 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription from RNA polymerase II promoter (inferred); regulation of transcription from RNA polymerase III promoter (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 6 6 6 p21.31 36781476 36817719 + 35226691 35263762 + 35259488 35295985 + 1580863;6480464 12477932;1427894;15231748;15280358;15489334;16337145;16522640;18391951;19322201;19423540;20406964;20438785;20546612;21145461;22505724;9705341 7629 E7EX64;F8W971;H7C513;P36508 AB208784;ABBA01038223;ABBA01038224;AK294605;AK295276;AK302903;AK304626;AK310877;AMYH02013536;BC000133;BC002549;BE962441;BT007316;CH471081;DC299240;M91592;NM_001292032;NM_003427;XM_005249364;XM_005249369;XM_005249370;XR_241915;XR_241916;Z97832 AAA98739;AAH00133;AAH02549;AAP35980;BAD92021;BAG57792;BAG58260;BAH13837;BAH14227;EAX03814;EAX03815;EAX03816;EAX03817;EAX03818;EAX03819;EAX03820;NP_001278961;NP_003418;P36508;XP_005249421;XP_005249426;XP_005249427 Hs.388024 1644894;1721467 G59587;WIAF-2106 D6S229E;ZNF523;Zfp523 OTTHUMP00000016253;OTTHUMP00000215521;OTTHUMP00000215553;zinc finger protein 523;zinc finger protein 76 (expressed in testis) APPROVED protein-coding ENSG00000065029 HGNC:13149 01929 194549 VALIDATED 1345365 ZNF75D zinc finger protein 75D This gene encodes a protein that likely functions as a transcription factor. The protein, which belongs to the ZNF75 family, includes an N-terminal SCAN domain, a KRAB box, and five C2H2-type zinc finger motifs. Another functional gene belonging to this family is located on chromosome 16, while pseudogenes have been identified on chromosomes 11 and 12. Alternative splicing results in multiple transcripts variants. [provided by RefSeq, Jun 2010] X X X q26.3 134803744 134813984 - 134419719 134478034 - 135285787 135344109 - 1580863;6480464;8554872 11329013;12477932;14702039;1505955;16344560;18029348;22505724;8288223;8661144 7626 P51815;Q86TD5 ABBA01050054;AC234771;AI264634;AK091687;AK092347;AK290215;AL450472;AL590282;AL831984;AL832801;AMYH02040553;AY730281;BC029787;BC109100;BG186944;CB241691;CF530049;CH471107;DA412890;KF459429;KF510640;NG_021412;NM_001185063;NM_007131;NR_110381;S43109;S67970;X68010;XM_005262469;XM_005262470;XM_005262471;XR_426550;XR_433782;XR_433783 AAB22971;AAB29696;AAI09101;AAW56974;ABZ92251;BAF82904;BAG52399;BAG52535;CAA48147;CAD89900;CAI46130;EAX11730;EAX11731;NP_001171992;NP_009062;P51815;XP_005262526;XP_005262527;XP_005262528 Hs.371717;Hs.533540;Hs.637362;Hs.639976;Hs.667773;Hs.736951 1686416;1699720;1702806;1712302;1758199;2128921;2146922;2177111;2181813 D16S3303;G54060;RH103465;RH66793;RH93882;SHGC-147646;SHGC-58317;STS-N33366;ZNF75 D8C6;MGC126327;ZKSCAN24;ZNF75;ZNF82;ZSCAN28 OTTHUMP00000024073;OTTHUMP00000024074;zinc finger protein 75;zinc finger protein 82 APPROVED protein-coding ENSG00000186376 HGNC:13145 02448 314997 REVIEWED 1605317 ZNF766 zinc finger protein 766 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH atrazine; cyclosporin A; ethyl methanesulfonate 19 19 19 q13.41 49822378 49845534 + 52772824 52795979 + 52269542 52292726 + 6480464;8554872 12477932;14702039;21890473;22505724;24250222 90321 G3XAE0;M0QXI4;M0R139;M0R1P9;M0R2P3;M0R2R1;Q5HY98 ABBA01068258;ABBA01068259;ABBA01068260;AC010320;AK022545;AK024074;AK024268;AK097729;AMYH02036397;AMYH02036398;BC109201;BC136833;BC136834;BX538183;BX648899;CH471135;KC877759;NM_001010851;XM_006723458 AAI09202;AAI36834;AAI36835;ACE86945;ACE87633;BAG53522;CAD98055;CAI45991;EAW72067;EAW72068;EAW72069;NP_001010851;Q5HY98;XP_006723521 Hs.439662 1697794;2127249;5015861;5116670;7185938 D10S16;RH102421;SHGC-57756;sY3122 protein-coding HGNC:28063 14268 VALIDATED 1602446 ZNF765 zinc finger protein 765 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene; ethyl methanesulfonate; methyl methanesulfonate 19 19 19 q13.42 50939781 50956648 + 53898397 53915262 + 53389626 53412009 + 6480464;8554872 12477932;20379614;21890473;22505724;23000965;24250222 91661 D6RF03;E9PDE6;Q7L2R6 ABBA01068216;AC022137;AK293890;AK295840;AK316300;AMYH02036424;AMYH02036425;BC001610;BC017357;BC140724;BX647981;CD656338;CH471135;NM_001040185;XM_006723466;XM_006723467;XR_430215 AAI40725;ABZ92083;BAG57279;BAG58650;BAH14671;EAW72134;EAW72135;NP_001035275;Q7L2R6;XP_006723529;XP_006723530 Hs.685640 1718383;5037552;5096939 D8S2279;RH118661;RH122965 DKFZp686J2252 OTTHUMP00000223137 protein-coding ENSG00000196417 HGNC:25092 14285 PROVISIONAL 1605335 ZNF767P zinc finger family member 767, pseudogene INTERACTS WITH ethyl methanesulfonate; formaldehyde; methyl methanesulfonate 7 7 7 q36.1 143913506 143991090 - 149244245 149321881 - 149547154 149624790 - 6480464 12477932;12853948;12975309;14702039;15489334;16344560;20379614;21833088;9847074 79970 Q6UVX0;Q75MW2 AACC02000041;ABBA01033635;AC004932;AK022762;AK124860;AK295771;AMYH02017051;AY359125;BC047675;CH471146;DA249066;DA418417;DC295958;NR_027788;NR_027789 AAH47675;AAQ89482;AAQ96876;BAB14233;BAH12184;EAL24433;EAW80038;EAW80039;EAW80040;Q75MW2 Hs.520785 1671821;2111087;2119168;2126371;2126434;2137383;2179677 D7S2349;D7S605E;G23225;GDB:4585138;RH45617;RH78816;WI-10719 FLJ12700;FLJ42870;MGC51818;ZNF767 APPROVED pseudo ENSG00000133624 HGNC:21884 07791 VALIDATED 1348414 ZNF75CP zinc finger protein 75C, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 11 11 11 q14.1 75403646 75406539 + 78094979 78098072 + 78383933 78387026 + 1580863 16554811;8661144 729944 Q92670 ABBA01017404;AP003086;NG_008023;NG_016171;X91828 CAA62937;Q92670 1702806 ZNF75 ZNF75C APPROVED pseudo HGNC:13148 INFERRED 1605951 ZNF768 zinc finger protein 768 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription from RNA polymerase II promoter (inferred); FOUND IN DNA-directed RNA polymerase II, core complex (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; elemental selenium 16 16 16 p11.2 29760500 29763088 + 30535322 30538821 - 30524001 30526589 - 6480464 12107411;12477932;15302935;16196087;20211142;21139048;21900206;21906983;22505724;22990118;24778252 79724 H3BS42;Q9H5H4 ABBA01042034;AC002310;AC243616;AK027089;AK295274;AK315449;BC013760;BC092403;BQ635980;CA423836;CH471192;NM_024671 AAH13760;AAH92403;BAB15652;BAG37837;BAH12023;EAW52241;EAW52242;NP_078947;Q9H5H4 Hs.85658 1699044 RH103096 FLJ23436 OTTHUMP00000163225 protein-coding ENSG00000169957 HGNC:26273 08671 VALIDATED 1346753 ZNF77 zinc finger protein 77 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; all-trans-retinoic acid; beryllium sulfate 19 19 19 p13.3 2867356 2879033 - 2933216 2944969 - 2915341 2944971 - 1580863;6480464;8554872 12477932;15489334;16344560;17207965;18029348;19322201;22505724;8478004 58492 Q15935 ABBA01002778;AC006277;AC011559;AC119403;AK290979;AL365370;AMYH02035224;AW450750;BC043354;BC062561;CH471139;DB104618;NM_021217;X65230;XM_006722822 AAH43354;AAH62561;ADQ32082;BAF83668;CAA46337;CAB96946;EAW69354;NP_067040;Q15935;XP_006722885 Hs.38004 1770101 RH78719 ZNFpT1;pT1 protein-coding ENSG00000175691 HGNC:13150 08936 194551 VALIDATED 1606270 ZNF770 zinc finger protein 770 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; atrazine; paracetamol 15 15 15 q14 12029884 12039839 - 35270542 35280497 - 34978341 34988296 - 6480464 12477932;14702039;15489334;16344560;19322201;19615732;23897914;24250222 54989 H0YM59;Q6IQ21 ABBA01038515;AC114546;AI031776;AI421027;AI890305;AK000589;AK127201;AK131433;AK291438;AMYH02030181;BC005188;BC035308;BC071603;BM454360;BQ921117;CD704851;CH471125;DA331762;NM_014106 AAH71603;BAA91274;BAD18579;BAF84127;EAW92324;NP_054825;Q6IQ21 Hs.744990 1769052;2133163;2141798;5015619;5037552 D11S3114;D15S951;D8S2279;RH46359;RH66164 FLJ20582;PRO1914 OTTHUMP00000160101 protein-coding ENSG00000198146 HGNC:26061 16918 VALIDATED 1605390 ZNF771 zinc finger protein 771 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH amiodarone; arsane; arsenic atom 16 16 16 p11.2 29858273 29879529 - 30418735 30429916 + 30407414 30418595 + 6480464 12477932;15489334;24250222;24654937 51333 B2R9V3;H3BRY2;I3L3L5;Q7L3S4 ABBA01042023;ABBA01042024;ABBA01042025;AC116348;AC243825;AF242768;AK313930;BC011870;BC026192;BI599970;CS300734;NM_001142305;NM_016643 AAF65445;AAH11870;AAH26192;BAG36650;CAK32398;NP_001135777;NP_057727;Q7L3S4 Hs.148584 1686915;1737585 D16S2672;SHGC-61066 DSC43 mesenchymal stem cell protein DSC43 protein-coding ENSG00000179965 HGNC:29653 14238 VALIDATED 1606077 ZNF772 zinc finger protein 772 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 19 19 19 q13.43 55024665 55032644 - 57980954 57988945 - 57469586 57477577 - 12477932;21890473 400720 C9J1S5;C9JFF8;M0R084;M0R156;Q68DY9 ABBA01020808;AC003005;AC004076;AK293825;AK294941;AK301562;AK302574;AMYH02036517;BC150292;BX647068;CR749225;NM_001024596;NM_001144068;XM_005258943;XM_005258944 AAI60024;BAG57229;BAG58017;BAG63057;BAG63832;CAH18081;NP_001019767;NP_001137540;Q68DY9;XP_005259000;XP_005259001 Hs.388810 2117331;5014051;5022200;5022578;5037552 D1S1423;D8S2278;D8S2279;L18426;SHGC-56934 DKFZp686I1569 OTTHUMP00000237544;OTTHUMP00000237547;OTTHUMP00000237548;OTTHUMP00000237549 protein-coding ENSG00000197128 HGNC:33106 18624 VALIDATED 1605527 ZNF773 zinc finger protein 773 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; atrazine; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.43 55054897 55063116 + 58011222 58029772 + 57499854 57518404 + 6480464 12477932;14702039;18029348;20562864;21890473 374928 M0QX16;M0QYZ8;Q6PK81 ABBA01020807;AC003005;AC003682;AK057209;AK160372;AMYH02036517;BC005167;CH471135;NM_198542;XM_005258878;XM_005258879;XM_005258880 AAH05167;ABZ92474;BAB71382;BAD18715;EAW72507;EAW72508;NP_940944;Q6PK81;XP_005258935;XP_005258936;XP_005258937 Hs.579576 1723725 RH121433 FLJ00301;MGC4728;ZNF419B zinc finger protein 419B protein-coding ENSG00000152439 HGNC:30487 14655 PROVISIONAL 1606399 ZNF774 zinc finger protein 774 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); benzo[a]pyrene (ortholog) 15 15 15 q26.1 67299816 67309053 + 90895477 90905884 + 90295168 90362652 + 6480464;8554872 12477932;15489334;16344560;17207965;22446963;23333304 342132 E7EQ77;H0YLG8;H0YNW6;Q6NX45 ABBA01053054;AC018946;AC091167;AK289385;AMYH02031040;BC067279;CR749343;DA017564;NM_001004309;XM_005254895;XM_006720484;XM_006720485 AAH67279;ADQ32667;BAF82074;CAH18196;NP_001004309;Q6NX45;XP_005254952;XP_006720547;XP_006720548 Hs.55307 1680950;5015619;5022200;5022450 D10S275;D11S3114;L18426;RH66575 MGC75360 protein-coding HGNC:33108 17571 VALIDATED 1603510 ZNF775 zinc finger protein 775 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); C60 fullerene (ortholog) 7 7 7 q36.1 144633503 144652813 + 150076406 150095719 + 150379317 150398631 + 6480464 12477932;15489334;17081983;21900206 285971 C9JAM7;C9JVG2;Q96BV0 ABBA01035185;ABBA01035186;ABBA01035187;ABBA01035188;ABBA01035189;AC005586;AC073111;AMYH02017057;AMYH02017058;AW402889;BC015152;BC038111;CH471173;DB472309;KF510991;NM_173680 AAH15152;EAW54116;NP_775951;Q96BV0 Hs.655734 1771689;2165633;5106449 RH11671;RH47964;SHGC-57996 MGC33584 OTTHUMP00000212794;OTTHUMP00000212795;OTTHUMP00000212796 protein-coding ENSG00000196456 HGNC:28501 14567 VALIDATED 1602053 ZNF776 zinc finger protein 776 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; coumestrol 19 19 19 q13.43 55301690 55313051 + 58258164 58269527 + 57746796 57758159 + 6480464 12477932;14702039;19913121;20628086 284309 B2RN90;B4DSC6;C9J7N9;H7C4D2;Q68DI1 ABBA01020802;AC003006;AI446541;AK095607;AK127764;AK299680;AMYH02036520;BC136752;BC136753;BX957217;CH471135;CR749390;CR936802;NM_173632 AAI36753;AAI36754;BAC04588;BAC87119;BAG61588;CAH18239;EAW72530;EAW72531;EAW72532;NP_775903;Q68DI1 Hs.720254;Hs.737521 1734714;2120002;2172321;2175428 D19S704E;G18046;RH46392;SHGC-24036 DKFZp686K10134;DKFZp781G1213;FLJ30886;FLJ38288 OTTHUMP00000211085 protein-coding ENSG00000152443 HGNC:26765 08237 VALIDATED 1604215 ZNF778 zinc finger protein 778 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] 16 16 16 q24.3 74349908 74361295 + 89284111 89302402 + 89217703 89229557 + 6480464 11181995;12477932;14702039;15489334;16344560;16751776;19920853;22505724 197320 H3BSD4;H3BUU4;Q96MU6 ABBA01014158;AC009113;AK056437;AMYH02032658;AMYH02032659;BC015872;BC125192;BC143524;CH471184;DA297948;DC324714;DQ583714;DR001516;KF456218;NG_028146;NM_001201407;NM_182531;NR_037705;XM_005256288;XM_005256289;XM_005256290;XM_006721165 AAH15872;AAI25193;BAB71183;EAW66738;NP_001188336;NP_872337;Q96MU6;XP_005256345;XP_005256346;XP_005256347;XP_006721228 Hs.647385 1778115 SHGC-60778 FLJ31875;MGC150573 APPROVED protein-coding ENSG00000170100 HGNC:26479 08111 REVIEWED 1604491 ZNF780A zinc finger protein 780A ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 q13.2 37373427 37395213 - 40575059 40596845 - 40069152 40090938 - 6480464 12477932;14702039;15057824;16344560;8889548 284323 M0QXV4;M0QYL2;O75290;Q05CQ7 ABBA01040738;AC005614;AC245507;AI638558;AK091274;AK131328;AW243188;BC021982;BU685481;CH471126;DA436454;DA758840;DB097567;NM_001010880;NM_001142577;NM_001142578;NM_001142579;XM_005258773;XM_005258774;XM_005258775;XM_006723150 AAC34327;AAH21982;AAI56541;AAI72502;BAD18488;EAW56936;NP_001010880;NP_001136049;NP_001136050;NP_001136051;O75290;XP_005258830;XP_005258831;XP_005258832;XP_006723213 Hs.115140 1783800 SHGC-144867 ZNF780 OTTHUMP00000207267 protein-coding ENSG00000197782 HGNC:27603 17336 VALIDATED 1605270 ZNF781 zinc finger protein 781 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-); copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.12 34959196 34983751 - 38158650 38183216 - 37667749 37699787 - 6480464 12477932;16344560;22505724 163115 Q8N8C0 AA778692;ABBA01040631;ABBA01040632;ABBA01040633;AC093227;AK094868;AK097019;AMYH02036046;BC035681;BC108687;CH471126;DA479602;NM_152605;XM_006723066;XM_006723067;XM_006723068;XM_006723069;XM_006723070;XM_006723071 AAI08688;BAC04927;EAW56746;EAW56747;NP_689818;Q8N8C0;XP_006723129;XP_006723130;XP_006723131;XP_006723132;XP_006723133;XP_006723134 Hs.722657 5492877 UniSTS:483120 FLJ37549;MGC131783 protein-coding ENSG00000196381 HGNC:26745 08225 VALIDATED 1602429 ZNF780B zinc finger protein 780B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17alpha-ethynylestradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 q13.2 37332535 37360483 - 40534167 40562125 - 40028260 40056238 - 6480464 12477932;14702039;15057824 163131 C9JTJ1;M0R0W9;M0R168;Q9Y6R6 ABBA01040738;AC005614;AC007842;AC245507;AK122872;AK127063;BC136960;CB053507;CH471126;NM_001005851;XM_005258590;XM_005258591;XM_005258592;XM_005258593;XM_005258595;XM_006723072;XM_006723073 AAD39268;AAI36961;EAW56932;EAW56933;EAW56934;EAW56935;NP_001005851;Q9Y6R6;XP_005258647;XP_005258648;XP_005258649;XP_005258650;XP_005258652;XP_006723135;XP_006723136 Hs.101139 1680399;5016700;5037552;5117897 D8S2279;GDB:631813;RH79802;RH93974 ZNF779 OTTHUMP00000207266;zinc finger protein 779 protein-coding ENSG00000128000 HGNC:33109 11243 VALIDATED 1603891 ZNF782 zinc finger protein 782 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsane; arsenic atom; ethyl methanesulfonate 9 9 9 q22.33 70020598 70057714 - 99578754 99696169 - 96816472 96930898 - 6480464;8554872 12477932;14702039;18029348;19030899;22505724;24250222 158431 C9J9Y8;F8WEU9;G3V1K9;H0Y892;Q6ZMW2 ABBA01043570;AK131468;AK302460;AL158827;AMYH02021302;BC137073;CH471174;NM_001001662;XM_005251742;XM_005251744;XM_006716980;XM_006716981 AAI37074;BAD18613;BAG63751;EAW92667;EAW92668;NP_001001662;Q6ZMW2;XP_005251799;XP_005251801;XP_006717043;XP_006717044 Hs.732126 1683797;1704508;2141757 RH99219;SHGC-83022;STS-N35244 FLJ16636 OTTHUMP00000216169;OTTHUMP00000216170 protein-coding ENSG00000196597 HGNC:33110 16914 PROVISIONAL 1602066 ZNF784 zinc finger protein 784 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN hematopoietic progenitor cell differentiation (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 3,3',4,4',5-pentachlorobiphenyl; bisphenol A 19 19 19 q13.42 53174394 53178228 - 56132107 56135941 - 55620741 55624575 - 6480464 12477932;14702039;15489334;21900206;24250222 147808 K7EQ92;Q8NCA9 ABBA01020862;AC008735;AF086055;AK074859;AMYH02036473;BC065822;CH471135;CQ782822;NM_203374 AAH65822;BAC11251;CAF86050;EAW72395;EAW72396;EAW72397;NP_976308;Q8NCA9 Hs.53996 1776383 RH78977 MGC75238 protein-coding ENSG00000179922 HGNC:33111 14076 VALIDATED 1602069 ZNF785 zinc finger protein 785 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH coumestrol; diazinon; valproic acid 16 16 16 p11.2 29701399 29706415 + 30591994 30597092 - 30579606 30585771 - 6480464 10493829;12477932;14702039;15146197;15489334;18187620;21988832 146540 A8K8V0;H3BR67;I3L119 ABBA01042041;AC002310;AC243616;AK056692;AK292465;AK298848;AK309511;BC040642;CH471192;CN401082;NM_152458;XM_005255136;XM_006721022 A8K8V0;AAC31673;AAH40642;ABZ92105;BAB71256;BAF85154;BAG60973;EAW52229;EAW52230;EAW52231;EAW52232;NP_689671;XP_005255193;XP_006721085 Hs.513509 1681989;1683066;1783438;5014051;5015619;5015879;5022450;5109281 D10S275;D11S3114;D1S1425;D8S2278;GDB:314949;RH67802;RH93512;SHGC-171812 FLJ32130 OTTHUMP00000163231;OTTHUMP00000212926 protein-coding ENSG00000197162 HGNC:26496 08120 VALIDATED 2304142 ZNF788 zinc finger family member 788 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; all-trans-retinoic acid; arsenite(3-) 19 19 19 p13.2 12097465 12119880 + 12203078 12225493 + 12092263 12114678 + 6480464 20125193 388507 M0R3I2;Q6ZQV5 ABBA01029809;AC022415;AI478464;AK128282;AK128700;AMYH02035543;AMYH02035544;NR_027049 BAC87366;BAC87578;Q6ZQV5 Hs.127473 5022200 L18426 FLJ46419;FLJ46867 pseudo ENSG00000214189 HGNC:33112 17002 VALIDATED 1604748 ZNF786 zinc finger protein 786 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nucleus; INTERACTS WITH copper(2+) sulfate; crotonaldehyde; formaldehyde 7 7 7 q36.1 143437217 143458210 - 148766733 148787869 - 149069641 149090777 - 6480464;8554872 11076863;11230166;11256614;12477932;15489336;16344560;16381901 136051 H7BXP3;Q8N393 AACC02000041;ABBA01033615;ABBA01033616;ABBA01033617;AC073422;AK095701;AK297472;AL834510;AMYH02017036;AMYH02017037;BC109245;BC128392;BX647929;CH471146;DB316299;DB453090;NM_152411 AAI09246;AAI28393;BAG59893;CAD39166;CAI46083;CAL37751;CAL37799;EAL24426;EAW80062;EAW80063;EAW80064;NP_689624;Q8N393 Hs.729572 DKFZp762I137;MGC156120 OTTHUMP00000213783 protein-coding ENSG00000197362 HGNC:21806 13232 VALIDATED 1603274 ZNF787 zinc finger protein 787 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog); N-nitrosodiethylamine (ortholog) 19 19 19 q13.43 53643037 53676872 - 56598732 56632649 - 56087366 56121280 - 6480464 12477932;15717329;23151878;23182705;23667531;24250222;24457600 126208 K7EKJ5;M0R0X7;Q6DD87 ABBA01020841;ABBA01020842;ABBA01020843;ABBA01151612;AC024580;AF000560;AI037960;AMYH02036487;BC012495;BC037737;BC058034;BC077728;CH471135;HY059733;KF573663;NM_001002836 AAB58413;AAH77728;EAW72423;NP_001002836;Q6DD87 Hs.397153 2131842 RH66150 TIP20 TTF-I interacting peptide 20;TTF-I-interacting peptide 20;transcription termination factor I interacting peptide 20 protein-coding ENSG00000142409 HGNC:26998 14032 VALIDATED 1603509 ZNF789 zinc finger protein 789 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN nucleus; INTERACTS WITH 2-methylcholine; atrazine; cyclosporin A 7 7 7 q22.1 93804713 93819415 + 99070476 99085408 + 99472854 99487785 + 6480464;8554872 12477932;12690205;14702039;16341674;19850743 285989 C9J3R7;C9J487;C9JUE3;F8WEN0;Q5FWF6 ABBA01013259;ABBA01013260;AC073063;AK093141;AK131429;AK309467;AMYH02016361;BC031249;BC050286;BC089424;BI767175;BM840763;BX648360;CH236956;CH471091;NM_001013258;NM_213603;XM_005250281;XM_006715929;XM_006715930 AAH89424;BAD18576;EAL23875;EAL23876;EAW76660;NP_001013276;NP_998768;Q5FWF6;XP_005250338;XP_006715992;XP_006715993 Hs.440384 5014029;5014740;5015619;5016478;5016596;5021872;5022425;5022463;5024756;5037552;5118444;5493643 D11S3114;D11S3316;D13S1639;D17S610;D22S296;D3S1673;D8S2279;GDB:434012;GDB:631802;RH80030;UniSTS:490087;sY3084 OTTHUMP00000206245;OTTHUMP00000214545 protein-coding ENSG00000198556 HGNC:27801 14161 VALIDATED 1344887 ZNF78L1 zinc finger protein 78-like 1 (pT3) 8478004 7631 Q15936 HGNC:13151 1604021 ZNF777 zinc finger protein 777 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; cyclosporin A; disodium selenite 7 7 7 q36.1 143797705 143827305 - 149128454 149158053 - 149431363 149460962 - 6480464;8554872 10574462;12477932;18029348;21906983 27153 Q9ULD5 AACC02000041;AB033111;ABBA01033631;ABBA01033632;AC073314;AK074515;AK075032;AMYH02017048;AMYH02017049;BC023985;BC105968;BX444270;CH471146;CQ783020;DR763452;NM_015694;XM_005249980;XM_005249981 AAH23985;AAI05969;BAA86599;BAC11033;BAC11364;CAF86227;EAL24432;EAW80044;NP_056509;Q9ULD5;XP_005250037;XP_005250038 Hs.38512 1658990;1757885;2148740 SHGC-146761;STS-R72865;WI-16287 KIAA1285 OTTHUMP00000213751 protein-coding ENSG00000196453 HGNC:22213 13849 VALIDATED 1346008 ZNF78L2 zinc finger protein 78-like 2 (pT3) 8478004 7632 HGNC:13152 1603835 ZNF790 zinc finger protein 790 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog); benzo[a]pyrene (ortholog) 19 19 19 q13.12 34092627 34113574 - 37309224 37341689 - 36818322 36850787 - 6480464;8554872 12477932;15489334;16344560;17207965;21044950 388536 B4DMI3;E9PL27;E9PQ03;E9PRR6;K7EQ58;Q6PG37 ABBA01016192;ABBA01016193;ABBA01016194;AC008733;AC020928;AI808437;AK297474;AMYH02036025;AMYH02036026;AMYH02036027;BC057245;BF132049;BM473790;DA819130;DC307556;DC308617;DC324605;DC352882;DC377558;EL735861;NM_001242800;NM_001242801;NM_001242802;NM_206894;XM_005258902;XM_005258903;XM_005258904 AAH57245;BAG59895;NP_001229729;NP_001229730;NP_001229731;NP_996777;Q6PG37;XP_005258959;XP_005258960;XP_005258961 Hs.282067;Hs.734830 1654974;1734656 D19S657E;G09801 FLJ20350;MGC62100 OTTHUMP00000230463;OTTHUMP00000230464;OTTHUMP00000230465;OTTHUMP00000230466 protein-coding ENSG00000197863 HGNC:33114 17566 VALIDATED 1350135 ZNF79 zinc finger protein 79 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene 9 9 9 q34 100837528 100858526 + 130186653 130209525 + 127424374 127447246 + 1580863;6480464 10567577;12477932;14702039;15164053;15342556;15489334;16344560;19851296;20198315;22505724;8262519;8478004;9380504 7633 B4DY65;B7ZAB8;F5H032;Q15937 ABBA01043833;AI301044;AK054606;AK302284;AK316233;AL445222;AMYH02021683;BC062309;BP248437;BP351823;CH471090;DA001397;DC378814;NM_001286696;NM_001286697;NM_001286698;NM_007135;X65232;XM_006717279 AAH62309;ABZ92252;BAB70771;BAG63627;BAH14604;CAA46339;EAW87665;NP_001273625;NP_001273626;NP_001273627;NP_009066;Q15937;XP_006717342 Hs.522399 1341354;1658875;2169940 D9S1819;SHGC-33761;STS-T94329 ZNFpT7;pT7 OTTHUMP00000022185 protein-coding ENSG00000196152 HGNC:13153 01931;01934 194552 VALIDATED 6766559 ZNF790-AS1 ZNF790 antisense RNA 1 ASSOCIATED WITH Melanoma (inferred) 19 19 19 q13.13 34072384 34103308 + 37288452 37319013 + 36797550 36828111 + 8554872 14702039 284408 ABBA01016192;ABBA01016193;ABBA01016194;ABBA01016195;AC020928;AK094324;AMYH02036024;AMYH02036025;AMYH02036026;BM467896;BM476885;BX394102;HG510728;HG510729;HG510730;NR_040027;NR_040028 Hs.570010 1654974;5014051 D8S2278;G09801 APPROVED ncrna ENSG00000267254 HGNC:27617 VALIDATED 9586502 ZNF793-AS1 ZNF793 antisense RNA 1 (head to head) 19 19 q13.12 37988061 37997948 - 37497159 37507041 - 101927720 ABBA01040628;ABBA01040629;AC022148;AI620530;AMYH02036044;CD000403;CN386885;EL950706;HG510747;HG510748;HG510749;NR_110723;XR_243995;XR_243996;XR_248568;XR_248569;XR_253887;XR_253888;XR_424985;XR_430244;XR_433575 Hs.18070 ncrna HGNC:51303 VALIDATED 1605566 ZNF791 zinc finger protein 791 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; bisphenol A 19 19 19 p13.2 12611456 12630402 + 12721732 12740676 + 12610918 12629862 + 6480464 12477932;15342556;18187620;21139048;22505724 163049 C9JU55;M0QYQ0;M0R0E8;M0R2N1;Q3KP31 ABBA01029786;ABBA01029787;ABBA01029788;AC010422;AK074877;AK297715;AK298597;AK307775;AMYH02035550;BC106937;BC106938;BP319293;CH471106;CQ783985;DC329382;NM_153358 AAI06938;AAI06939;ABZ92117;BAC11261;BAH12653;BAH12822;CAF86957;EAW84278;NP_699189;Q3KP31 Hs.720677 5037552 D8S2279 FLJ90396;MGC126179;MGC126180 OTTHUMP00000209864;OTTHUMP00000209865 protein-coding HGNC:26895 08295 VALIDATED 1606468 ZNF792 zinc finger protein 792 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; copper(2+) sulfate 19 19 19 q13.11 32160591 32168286 - 35447078 35455139 - 34956174 34964235 - 6480464 12477932;16344560;16712791;20379614;23314748;8889548 126375 Q3KQV3;S4R3B8 ABBA01018727;AC008555;AK095770;AK130901;AK304550;AL517807;AMYH02035973;BC101118;BC101119;BC101120;BC106043;BU428746;BU686719;CB108971;DB257726;NM_175872;W18184;XM_005258519 AAI01119;AAI01120;AAI01121;BAG65345;NP_787068;Q3KQV3;XP_005258576 Hs.50405 1646706;1734676;2156848 D19S682E;SHGC-64867;WI-22285 FLJ38451;MGC117233;MGC119731 OTTHUMP00000197099 protein-coding ENSG00000180884 HGNC:24751 13430 VALIDATED 4140607 ZNF783 zinc finger family member 783 ENCODES a protein that exhibits DNA binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH crotonaldehyde; aflatoxin B1 (ortholog); arsane (ortholog) 7 7 q36.1 148959262 148982085 + 149262171 149284994 + 6480464 11181995;12477932;14702039;19413330;8619474;9110174;9847074 100289678 F8WF09;Q6ZMS7 ABBA01033628;ABBA01033629;AC004890;AK022976;AL359620;AMYH02017044;AMYH02017045;BG029497;BX361979;CH471146;NM_001195220;XM_005249929 EAW80046;EAW80047;EAW80048;EAW80049;EAW80050;NP_001182149;Q6ZMS7;XP_005249986 Hs.490512 1774922;2169477;5015861;5037552;7185938 A005V39;D10S16;D8S2279;WI-18584 DKFZp762P2111;FLJ12914;FLJ16713 OTTHUMP00000213757 protein-coding ENSG00000204946 HGNC:27222 PROVISIONAL 1602030 ZNF793 zinc finger protein 793 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; lead(0); lead(2+) 19 19 19 q13.12 34798536 34834930 + 37997323 38034239 + 37506421 37543337 + 6480464;8554872 16344560;8889548 390927 K7EL37;K7EMH8;K7EMU0;K7EN11;K7EQP3;K7ERJ7;Q6ZN11 ABBA01040629;ABBA01040630;AC022148;AK131417;AK303740;AMYH02036044;BC150303;BE219465;BU683546;BX537524;CH471126;DB180171;NM_001013659;XM_005258926;XM_005258927;XM_005258928;XM_005258929;XM_005258930;XM_006723213 BAD18564;BAG64713;CAD97772;EAW56733;EAW56734;NP_001013681;Q6ZN11;XP_005258983;XP_005258984;XP_005258985;XP_005258986;XP_005258987;XP_006723276 Hs.568010 1690167;5014051;5015619;5016478;5017266;5022200;5022450;5022578;5022651;5024039;5037552;5118444 D10S275;D11S2921;D11S3114;D11S3316;D16S325;D1S1423;D8S2278;D8S2279;GDB:434012;L18426;L18506;RH92678 protein-coding ENSG00000188227 HGNC:33115 18402 VALIDATED 1350909 ZNF80 zinc finger protein 80 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH mercury atom; mercury(0) 3 3 3 q13.3 112361481 112364428 - 113953370 113956425 - 114234523 114237578 - 1580863;6480464 12477932;22145905;7659503;8478004 7634 P51504 ABBA01061638;AC093010;AMYH02007457;BC069606;BC069826;BC129925;CA420107;CH471052;NM_007136;X65233;XR_241507 AAH69606;AAH69826;AAI29926;CAA46340;EAW79603;NP_009067;P51504 Hs.271079;Hs.724900 2130466;5014794;5114018;5492621;5493445 D3S4164;G15971;RH80238;UniSTS:481823;UniSTS:486332 pT17 OTTHUMP00000214908;ZNFPT17 protein-coding ENSG00000174255 HGNC:13155 01932 194553 VALIDATED 1321682 ZNF8 zinc finger protein 8 INVOLVED IN BMP signaling pathway (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 q13.43 55834184 55851131 + 58790314 58827023 + 58278952 58295888 + 1580863;6480464 12370310;12477932;14702039;15489334;16964243;20360068;20562864;2106481;21549307;21888893;24250222;24816145;8125298 7554 B3KS94;P17098 ABBA01020774;ABBA01020775;AC020915;AK093110;AK225825;AK299716;AMYH02036532;BC039323;CH471135;M29581;NM_021089 AAA61314;AAH39323;ABZ92246;ADZ15584;BAG52656;BAG61616;EAW72570;NP_066575;P17098 Hs.590941;Hs.713519 1646954;1661177;2218694 D19S989;RH66637;ZNF8__4721 HF.18;Zfp128 zinc finger protein 272;zinc finger protein 8 (clone HF.18);zinc finger protein HF.18 protein-coding HGNC:13154 01919 194532 VALIDATED 1601814 ZNF804B zinc finger protein 804B ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred) 7 7 7 q21.13 83093566 83671109 + 88388753 88966346 + 88759439 89337032 + 8554872 12477932;14702039;18029348;20379614;20547088;20966902;21079607;22493691;23259602;23382691;23443559;9847074 219578 A4D1E1 ABBA01045853;ABBA01045854;ABBA01045855;ABBA01045856;ABBA01045857;ABBA01045858;AC002068;AC002127;AC002382;AC004015;AC004746;AC006350;AC074253;AC079744;AK056672;AMYH02016229;AMYH02016230;AMYH02016231;AMYH02016232;AMYH02016233;AY295769;BC140826;BC140829;CH236949;CH471091;KF458484;NM_181646 A4D1E1;AAI40827;AAI40830;AAP49447;BAB71248;EAL24168;EAW76900;NP_857597 Hs.684410 1299976;1649343;1696856;1696858;1714213;1715257;1723277;2117827;2133262;2141790;2167233;2172732;2177546;7184958 D7S630;FB3G7;G49172;G49173;GDB:1317430;GDB:1317484;GDB:1318020;GDB:1318032;GDB:1318581;RH119717;RH119879;RH12139;RH122328 FLJ32110 OTTHUMP00000161666;zinc finger 804B protein-coding ENSG00000182348 HGNC:21958 08721 PROVISIONAL 1626191 ZNF806 zinc finger protein 806 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); ammonium chloride (ortholog); benzo[a]pyrene (ortholog) 2 2 2 q21.2 125642747 125652182 + 133064717 133076320 + 132307144 132318747 + 6480464 14702039;24250222 646915 P0C7X5 ABBA01028219;ABBA01028220;AC097532;AMYH02004814;XM_001724242;XM_002345581;XM_003960310 P0C7X5;XP_001724294;XP_002345622;XP_003960359 2126127 D2S2051 protein-coding HGNC:33228 MODEL 1349576 ZNF804A zinc finger protein 804A ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; cyclosporin A 2 2 2 q32.1 179058829 179399965 + 185463093 185804214 + 184598366 184939487 + 6480464;8554872 12477932;12970790;14702039;16713569;18677311;19407193;19844207;20048749;20231838;20368704;20379614;20458322;20538430;20603450;20664580;20688871;20862696;20934520;20946959;20957649;21040459;21349497;21457757;21525856;21663974;21767209;21810628;21876541;21890790;21892778;21911029;21988329;21993378;22042765;22080834;22328493;22373944;22384243;22775511;22779921;22781169;22840435;22871346;22887939;22945618;22948380;23010486;23032874;23147122;23155182;23212061;23251661;23295962;23351715;23434502;23453885;23562677;23590871;23717212;23776546;23815973;24066410;24123948;24315717;24828433;8619474;9110174 91752 Q7Z570 ABBA01062321;ABBA01062322;ABBA01062323;ABBA01062324;AC010747;AC096667;AC112720;AF052145;AK055275;AK127762;AK131402;AK295280;AK307596;AMYH02005386;AMYH02005387;AMYH02005388;AY327407;BC136602;BC142612;BC150198;CH471058;NM_194250 AAI36603;AAI42613;AAI50199;AAP92799;BAD18549;BAG58264;EAX10945;EAX10946;NP_919226;Q7Z570 Hs.159528 1648089;1650202;1718767;1720753;1739273;1771546;1772089;1772091;2113908;2149786;2177842 A006A40;AB049867;D2S1300;D2S1798;D2S1932E;G05495;G20662;G59350;RH123074;RH48028;RH66239 C2orf10 OTTHUMP00000163464 protein-coding ENSG00000170396 HGNC:21711 12804 612282 PROVISIONAL 1604434 ZNF805 zinc finger protein 805 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper atom; copper(0); ethyl methanesulfonate 19 19 19 q13.43 54795338 54817394 + 57752053 57774106 + 57240685 57262738 + 6480464 12477932;18821565 390980 Q5CZA5 ABBA01020814;AC005261;AF024708;AK297977;AMYH02036510;AMYH02036511;BC140786;CR936617;HG511089;NM_001023563;NM_001145078 AAB81098;AAI40787;BAG60287;CAI56760;NP_001018857;NP_001138550;Q5CZA5 Hs.22488 1661968;1695006;5015619;5015861;5016478;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D8S2279;G44716;GDB:434012;STS-N91528 DKFZp686P08106 CTC-444N24.8 protein-coding HGNC:23272 18617 VALIDATED 2292083 ZNF807P zinc finger protein 807 (pseudogene) 19 19 q13.11 31745001 31748700 - 35032596 35036295 - 100129800 AC008747;NG_011972 1715443 RH120860 ZNF181P1;ZNF807 pseudo HGNC:33229 1603832 ZNF808 zinc finger protein 808 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 q13.41 50080840 50110167 + 53030905 53059502 + 52527652 52556249 + 6480464;8554872 12477932;16344560;21890473;22505724;23000965 388558 C9IZE3;C9J0J5;C9J871;C9JVX0;Q8N4W9 ABBA01068249;AC022150;AMYH02036403;BC017109;BC033230;BC130351;BC130353;CH471135;CR749856;DA094254;DW462787;FJ795029;NM_001039886;XM_005258906;XM_005258907;XM_005258908;XM_005258909 AAH17109;AAH33230;AAI30352;AAI30354;ACO37641;CAH18701;EAW72084;NP_001034975;Q8N4W9;XP_005258963;XP_005258964;XP_005258965;XP_005258966 Hs.729294 1762203;2128923;5024756;5024761;5038480 RH36905;RH48095;RH70673;RH80030;SHGC-146080 OTTHUMP00000212686;OTTHUMP00000212697;OTTHUMP00000212698;OTTHUMP00000212699 protein-coding ENSG00000198482 HGNC:33230 VALIDATED 1625646 ZNF812 zinc finger protein 812 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 3,4-methylenedioxymethamphetamine (ortholog); C60 fullerene (ortholog); cadmium dichloride (ortholog) 19 19 19 p13.2 9695796 9706929 - 9800189 9811493 - 9689513 9700817 - 6480464 729648 K7EK89;K7EN74;P0C7V5 ABBA01029968;ABBA01029969;AC008759;AK296815;AMYH02035473;CH471106;NM_001199814;XM_005260045;XM_005260046;XM_005260047;XM_005260048 BAG59388;EAW84048;NP_001186743;P0C7V5;XP_005260102;XP_005260103;XP_005260104;XP_005260105 Hs.626848 1335579;1771691;2165520 D19S586;D19S717;RH66058 OTTHUMP00000237124;putative zinc finger protein 812 protein-coding ENSG00000224689 HGNC:33242 PROVISIONAL 1604428 ZNF815P zinc finger protein 815, pseudogene 7 7 7 p22.1 5822384 5853633 + 5862791 5894066 + 5823160 5854435 + 14702039;23382691 401303 A8K554 ABBA01039480;ABBA01039481;ABBA01039482;AC004983;AC008167;AK096288;AK291169;AMYH02015153;AMYH02015154;AMYH02015155;NR_023382 BAF83858 Hs.372707 1645645;1786404;2152715;2164505 D4S3184;D7S1452;GDB:1317376;SHGC-171979 FLJ38969;ZNF815 APPROVED pseudo HGNC:22029 VALIDATED 1349324 ZNF81 zinc finger protein 81 This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause mental retardation X-linked type 45 (MRX45). [provided by RefSeq, May 2010] X X X p11.23 51891597 51976926 + 47696270 47781655 + 47836871 47922256 + 1580863;6480464;7240710;8554872;8699517 10398246;12477932;14702039;15121780;16344560;8088786;8088799;8088827;8507979;8530079;8938429 347344 B1AJV1;B1AJV2;P51508 ABBA01052409;ABBA01052410;ABBA01052411;ABBA01052412;AK126339;AK126949;AL022578;AL591394;AMYH02039291;AY487248;BC039609;BC111389;CH471164;DA219953;DA316311;DR002896;NG_021266;NM_007137;X68011;XM_005272600;Z98304 AAI48629;AAS17752;BAC86759;CAA48148;EAW59332;EAW59333;NP_009068;P51508;XP_005272657 Hs.114246 1648714;1674003;1855177;2134169;2135040;2154325;2178450;2218692 AL023610;AL023619;RH16348;RH65534;RH66794;SHGC-35116;STS-N34520;ZNF81__4722 FLJ44367;HFZ20;MRX45;dJ54B20.6 OTTHUMP00000023234;OTTHUMP00000064759;zinc finger protein 81 (hfz20) APPROVED protein-coding ENSG00000197779 HGNC:13156 300498;314998 REVIEWED 1603586 ZNF813 zinc finger protein 813 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); aflatoxin B1 (ortholog) 19 19 19 q13.42 51012425 51038989 + 53970989 53997546 + 53467735 53494292 + 6480464 14702039;16344560;20379614;21890473;22505724;23000965 126017 C9JZ01;E7EU70;Q6ZN06 ABBA01068214;ABBA01068215;AC022137;AK091460;AK131422;AMYH02036425;CH471135;DB066632;DB235327;DR006226;NM_001004301;XM_006723006 BAD18569;EAW72143;NP_001004301;Q6ZN06;XP_006723069 Hs.710780 1803806 ECD02812 FLJ16542;FLJ34141 OTTHUMP00000212769;OTTHUMP00000212771 protein-coding HGNC:33257 13367 VALIDATED 1606076 ZNF814 zinc finger protein 814 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); INTERACTS WITH all-trans-retinoic acid; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.43 55424234 55443924 - 58380747 58400442 - 57869379 57889074 - 6480464 12477932;14702039;15057824;16344560 730051 B7Z6K7;M0QY74;M0QYA7;M0QYL6;M0QZ45;M0QZ64;M0QZS8;M0R066;M0R0R0 ABBA01020795;ABBA01020796;AC010326;AF086563;AK022663;AK091350;AK096401;AK300483;AMYH02036522;BC056684;CH471135;DA017534;NM_001144989 B7Z6K7;BAH13293;EAW72539;NP_001138461 Hs.634143;Hs.733810 1701524;2121180;5015861;5017266;5022200;5022578;5022651;5037552;7185938 D10S16;D11S2921;D1S1423;D8S2279;L18426;L18506;RH104395;STS-N33228 FLJ39082 Putative zinc finger LOC730051;putative uncharacterized zinc finger protein 814;putative zinc finger protein LOC730051 protein-coding HGNC:33258 VALIDATED 1604764 ZNF799 zinc finger protein 799 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; MeIQx; 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p13.2 12394655 12405914 - 12500828 12512088 - 12390014 12401274 - 6480464;8554872 12477932;14702039;15489334;16344560;22505724 90576 D3YTF2;M0R0E1;Q96GE5 ABBA01029799;AC008758;AK027660;AL832890;AMYH02035547;BC009517;CB988846;CH471106;DB198205;NM_001080821 AAH09517;EAW84271;NP_001074290;Q96GE5 Hs.546637 HIT-40;MGC71805;ZNF842 OTTHUMP00000209843;OTTHUMP00000209844;protein for MGC71805;zinc finger protein 14;zinc finger protein 842;zinc finger protein HIT-40 protein-coding ENSG00000196466 HGNC:28071 VALIDATED 1625098 ZNF816B zinc finger protein 816B q13.41 729840 AC022150;XM_001127292;XM_001131483 XP_001127292;XP_001131483 Hs.467210 protein-coding HGNC:33266 1604241 ZNF816 zinc finger protein 816 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH atrazine; cadmium atom; zinc sulfate 19 19 19 q13.41 50500194 50513676 - 53452632 53466164 - 52949379 52962911 - 6480464 12477932;16344560;20953187;21890473;22505724;23000965 125893 F5GXJ3;I3L0H5;M0QY99;M0QZX7;M0R0G1;Q0VGE8 AA884369;ABBA01068230;AC010328;AC010487;AK291990;AL713804;AMYH02036416;BC063805;BC105739;BC105740;BC105930;CH471135;DA473052;NM_001031665;NM_001202456;NM_001202457 AAI05740;AAI05741;AAI05931;BAF84679;CAH56373;EAW72106;EAW72107;NP_001026835;NP_001189385;NP_001189386;Q0VGE8 Hs.655592 1684178;2179120 RH93828;STS-T63342 MGC125619;ZNF816A OTTHUMP00000236768;OTTHUMP00000236769;OTTHUMP00000236770;zinc finger protein 816A APPROVED protein-coding ENSG00000180257 HGNC:26995 18722 VALIDATED 1604435 ZNF818P zinc finger protein 818, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH trichostatin A; valproic acid 19 19 19 q13.42 50758128 50761248 + 53716201 53719355 + 53212948 53216102 + 6480464 10737800 390963 Q6ZRF7 ABBA01068219;ABBA01068220;AC092070;AK128250;AMYH02036422;BF908632;BG759674;GD137562;NR_073396 BAC87353;Q6ZRF7 Hs.444446 1698582;1753343;5016596;5024756 GDB:631802;RH102843;RH80030;SHGC-107211 FLJ46385;ZNF818 APPROVED pseudo HGNC:33265 13537 VALIDATED 5013859 ZNF816-ZNF321P ZNF816-ZNF321P readthrough This locus represents naturally occurring read-through transcription between the zinc finger protein 816 (ZNF816) gene and the zinc finger protein 321 (ZNF321) pseudogene on chromosome 19. The read-through transcript encodes a KRAB domain-containing protein that shares sequence identity with the upstream gene product, but it contains a distinct C-terminus encoded by exon structure from the downstream pseudogene. [provided by RefSeq, Jan 2011] 19 19 q 53430388 53466164 - 52927135 52962911 - 6480464;8554872 14702039;15489334;16344560;17974005;20967262 100529240 Q8N8H1 ABBA01068230;ABBA01068231;AC010328;AC010487;AK316503;AMYH02036414;AMYH02036415;AMYH02036416;CR749224;DB207639;NM_001202473 BAH14874;CAH18080;NP_001189402 Hs.675715 5015959;5024035;5106800;5117897 D10S2448;D13S116;GDB:631813;STS-U09414 DKFZp781C2298;FLJ79402;ZNF816-ZNF321 OTTHUMP00000236766;ZNF816-ZNF321 read-through transcript;ZNF816-ZNF321 readthrough APPROVED protein-coding HGNC:38879 VALIDATED 2307387 ZNF823 zinc finger protein 823 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; cisplatin; copper(2+) sulfate 19 19 19 p13.2 11726534 11744213 - 11832080 11849824 - 11721265 11738979 - 6480464 12477932;16344560;20936779;22505724 55552 C9J2N8;C9JU45;K7EN93;P16415 ABBA01029826;ABBA01029827;AC008543;AK300579;AK303213;AK308189;AMYH02035539;BC052597;BC063560;CH471106;DA519419;DA880101;NM_001080493;NM_001297610;NM_017507;X51760;XM_005259982;XM_006722789 AAH52597;AAH63560;BAG62278;BAH13920;CAA36064;EAW84239;NP_001073962;NP_001284539;NP_059977;P16415;XP_005260039;XP_006722852 Hs.142167 1712100 G54099 HSZFP36 OTTHUMP00000210066;OTTHUMP00000210067;ZFP 36 for a zinc finger protein;ZFP-36 for a zinc finger protein;zinc finger protein ZFP-36 protein-coding ENSG00000197933 HGNC:30936 VALIDATED 2292093 ZNF829 zinc finger protein 829 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); choline (ortholog); folic acid (ortholog) 19 19 19 q13.12 34163321 34191485 - 37379026 37407193 - 36888124 36916291 - 6480464 12477932;16344560;20562864;21549307;23455924 374899 Q3KNS6 ABBA01016190;AC008733;AK130969;AMYH02036027;BC107131;BC107132;BX538288;CR936826;DA033883;DB031896;KC877740;NM_001037232;NM_001171979;XM_005258876;XM_005258877 AAI07132;AAI07133;BAC85471;CAD98083;NP_001032309;NP_001165450;Q3KNS6;XP_005258933;XP_005258934 Hs.720312 2123405;5015861;5017170;5020635;5022578;5037552;5109281;5117897;5118576;5122450;7185938 A008I39;D10S16;D11S3430;D1S1423;D1S1425;D7S3207;D8S2279;GDB:631813;L29953;RH18518 DKFZp686K21248;DKFZp779O175;FLJ27459;MGC129866;MGC129867 OTTHUMP00000225028;OTTHUMP00000225029 protein-coding ENSG00000185869 HGNC:34032 VALIDATED 1605313 ZNF830 zinc finger protein 830 ENCODES a protein that exhibits metal ion binding (inferred); INVOLVED IN blastocyst growth (inferred); mitotic nuclear division (inferred); nuclear cell cycle DNA replication (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-methylcholine; copper(2+) sulfate 17 17 17 q12 30198746 30200402 + 33288549 33290205 + 34961530 34963186 + 6480464 12477932;14702039;15489334;16344560;17081983;18029348;19773279;21988832;22365833;22939629;23066043;24816145;8889548 91603 J3QQQ3;Q96NB3 ABBA01011221;AC022903;AI866097;AK055707;AK315671;AMYH02033340;BC002913;BC009044;BC011584;BG766126;BM720333;BM969401;CH471147;DB030670;NM_052857 AAH02913;AAH09044;AAH11584;ABM83252;ABM86454;BAB70992;BAG38036;EAW80200;NP_443089;Q96NB3 Hs.413678 1734410;1797150;1857857;2124214 D17S1382E;D17S1561;MGC20398;SHGC-56716 CCDC16;MGC20398;OMCG1;SEL13 coiled-coil domain containing 16;coiled-coil domain-containing protein 16;hypothetical protein MGC20398;orphan maintenance of genome 1;sel-13 suppressor of lin-12 homolog protein-coding HGNC:28291 14469 VALIDATED 1606144 ZNF827 zinc finger protein 827 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; 5-aza-2'-deoxycytidine; all-trans-retinoic acid 4 4 4 q31.22 144009499 144187313 - 146681874 146859607 - 145760722 145938455 - 6480464;8554872 12477932;14702039;16344560;16751668;19240061;20379614;21909109;22001757;22321011;22610502;22939629;23064961;23287719;23752268;23942779;8125298 152485 G5E9Z1;H0Y9K9;H0Y9M2;Q17R98 AB074279;ABBA01070038;ABBA01070039;ABBA01070040;ABBA01070041;ABBA01070042;AC104791;AC107212;AF450485;AI694534;AK056492;AK091130;AK094136;AK225805;AMYH02010259;AMYH02010260;BC033655;BC117407;BC143577;CH471056;DA760145;DQ384490;NM_178835;XM_006714094;XM_006714095;XM_006714096 AAI17408;AAI43578;AAP97679;ABD48897;BAC03591;BAG51731;BAG52823;EAX05033;EAX05034;EAX05035;NP_849157;Q17R98;XP_006714157;XP_006714158;XP_006714159 Hs.633543 1340352;1704284;1717891;1780006;1790235;2134692;7186463 D4S1202;D4S1586;RH122777;SHGC-154256;SHGC-83281;URB062 OTTHUMP00000220099;OTTHUMP00000220100;OTTHUMP00000220101 protein-coding ENSG00000151612 HGNC:27193 14095 VALIDATED 1603887 ZNF800 zinc finger protein 800 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; atrazine; copper(2+) sulfate 7 7 7 q31.33 121814067 121836470 - 127010097 127032778 - 127347180 127392724 - 6480464 12477932;14702039;17567994;17568003;19322201;21139048;24250222;24654937;25015289 168850 C9JHX9;C9JLY3;C9K0M9;Q2TB10;Q49A13;Q4G0T8 ABBA01057684;AC000123;AC000127;AF218032;AK125291;AK297946;AK309674;AMYH02016706;BC037348;BC047641;BC110623;BC110624;CH236947;CH471070;DQ655936;EF212246;NM_176814;XM_005250179;XM_005250181;XM_006715867;XM_006715868;XM_006715869 AAG17274;AAH37348;AAH47641;AAI10624;AAI10625;BAH12693;EAW83625;EAW83626;EAW83627;NP_789784;Q2TB10;XP_005250236;XP_005250238;XP_006715930;XP_006715931;XP_006715932 Hs.159006 1338527;1689512;1714895;1798468;1801200;1803772;1804078;1804304;1804408;1806968;1811250;1814572;1814706;1814870;1815902;1818676;1818746;1820558;1822912;1825068;1825374;1828692;1828694;1830850;1831176;1831576;1831826;1832308;1834406;1836534;1838164;1841878;2087000;2087002;2087004;2087006;2087008;2087010;2087012;2087014;2087016;2087018;2087020;2087022;2087024;2087026;2087028;2087030;2087032;2087034;2087036;2087038;2087040;2087042;2087044;2087046;2087048;2087050;2087052;2087054;2087056;2087058;2087060;2087062;2087064;2087066;2087068;2087070;2087072;2087074;2087076;2087078;2087080;2087082;2087084;2087086;2087088;2087090;2087092;2087094;2087096;2087098;2087100;2087102;2087104;2087106;2087108;2087110;2087112;2087114;2087116;2087118;2087120;2087122;2087124;2087126;2087128;2087130;2087132;2087134;2087136;2087138;2087140;2087142;2087144;2087146;2087148;2087150;2087152;2087154;2087156;2087158;2087160;2087162;2087164;2087166;2087168;2087170;2087172;2087174;2087176;2087178;2087180;2087182;2087184;2087186;2087188;2087190;2087192;2087194;2087196;2087198;2087200;2087202;2087204;2087206;2087208;2087210;2087212;2087214;2087216;2087218;2087220;2087222;2087224;2123147;2196674;2196676;2196678;2196680;2196682;2196684;2196686;2196688;2196690;2196692;2196694;2196696;2196698;2196700;2196702;2196704;2196706;7185293;7185415 D7S2186;D7S514;ECD00071;ECD01472;ECD02793;ECD02956;ECD03076;ECD03128;ECD04449;ECD06623;ECD08316;ECD08384;ECD08466;ECD08991;ECD10402;ECD10437;ECD11354;ECD12544;ECD13635;ECD13793;ECD15473;ECD15474;ECD16561;ECD16724;ECD16925;ECD17051;ECD17293;ECD18351;ECD19431;ECD20254;ECD22141;REN114757;REN114758;REN114759;REN114760;REN114761;REN114762;REN114763;REN114764;REN114765;REN114766;REN114767;REN114768;REN114769;REN114770;REN114771;REN114772;REN114773;REN114774;REN114775;REN114776;REN114777;REN114778;REN114779;REN114780;REN114781;REN114782;REN114783;REN114784;REN114785;REN114786;REN114787;REN114788;REN114789;REN114790;REN114791;REN114792;REN114793;REN114794;REN114795;REN114796;REN114797;REN114798;REN114799;REN114800;REN114801;REN114802;REN114803;REN114804;REN114805;REN114806;REN114807;REN114808;REN114809;REN114810;REN114811;REN114812;REN114813;REN114814;REN114815;REN114816;REN114817;REN114818;REN114819;REN114820;REN114821;REN114822;REN114823;REN114824;REN114825;REN114826;REN114827;REN114828;REN114829;REN114830;REN114831;REN114832;REN114833;REN114834;REN114835;REN114836;REN114837;REN114838;REN114839;REN114840;REN114841;REN114842;REN114843;REN114844;REN114845;REN114846;REN114847;REN114848;REN114849;REN114850;REN114851;REN114852;REN114853;REN114854;REN114855;REN114856;REN114857;REN114858;REN114859;REN114860;REN114861;REN114862;REN114863;REN114864;REN114865;REN114866;REN114867;REN114868;REN114869;RH120442;RH93274;stSG613588;stSG613589;stSG613590;stSG613591;stSG613592;stSG613593;stSG613594;stSG613596;stSG613597;stSG613598;stSG613599;stSG613600;stSG613601;stSG613602;stSG613603;stSG613604;stSG613607 FLJ43301;MGC130032;MGC130033 OTTHUMP00000025074;OTTHUMP00000069088;OTTHUMP00000069089;OTTHUMP00000069090;OTTHUMP00000192889 protein-coding ENSG00000048405 HGNC:27267 14112 VALIDATED 1342538 ZNF83 zinc finger protein 83 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; benzo[a]pyrene diol epoxide I; bilirubin 19 19 19 q13.3 50164872 50243119 - 53115617 53193834 - 52612364 52690581 - 1580863;6480464 12477932;14702039;15231748;16344560;17213182;20936779;22505724;2505992;7865130;8088807;8125298 55769 B3KQJ6;L0R8M2;M0QXM0;M0R099;M0R0P3;M0R183;M0R1T0;M0R287;M0R3A5;P51522;Q96K00 AA883993;AB209516;ABBA01068244;ABBA01068245;ABBA01068246;AC022150;AK001877;AK027518;AK027782;AK054659;AK055318;AK075066;AK225945;AK289399;AMYH02036397;AMYH02036398;AMYH02036399;AMYH02036400;AMYH02036401;AMYH02036402;AMYH02036403;AMYH02036404;AMYH02036405;AMYH02036406;AY500361;BC013321;BC017737;BC032867;BC050407;BC063032;BG260506;BG399319;BG741860;BX641726;BX647540;CH471135;DA107683;DA151844;DA183557;DA258790;DA341245;DA380756;DA434207;DA449506;DA497861;DA701045;DA731895;DB107467;DB134270;DB252431;DB254966;DB272526;DR761375;DT216882;M27877;NM_001105549;NM_001105550;NM_001105551;NM_001105552;NM_001277945;NM_001277946;NM_001277947;NM_001277948;NM_001277949;NM_001277951;NM_001277952;NM_018300 AAG41760;AAH32867;AAH50407;AAH63032;AAS55111;BAA91956;BAB55171;BAB55364;BAD92753;BAF82088;BAG51500;BAG52058;EAW72088;EAW72089;EAW72090;EAW72091;NP_001099019;NP_001099020;NP_001099021;NP_001099022;NP_001264874;NP_001264875;NP_001264876;NP_001264877;NP_001264878;NP_001264880;NP_001264881;NP_060770;P51522 Hs.467210;Hs.659798;Hs.665751;Hs.710125;Hs.744177 1671470;1673904;1712078;1739915;1768245;2110835;5019573;5022651;5111429 A006V32;D11S2921;D6Got83;D8S1680;G54087;SHGC-32432;SHGC-56762;STS-AA028917;ZNF83__4723 FLJ11015;FLJ14876;FLJ30097;FLJ90585;HPF1;MGC33853;ZNF816B zinc finger protein 816B;zinc finger protein HPF1 protein-coding ENSG00000167766 HGNC:13158 01935 194558 VALIDATED 3378722 ZNF834 zinc finger protein 834 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) q11.2 441955 AL163202 CAB90395;Q9NSJ1 PRED65 protein-coding HGNC:34331 1606634 ZNF833P zinc finger protein 833, pseudogene ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INTERACTS WITH paracetamol; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); benzo[a]pyrene (ortholog) 19 19 19 p13.2 11679253 11691824 + 11784813 11797384 + 11673998 11686569 + 6480464 12477932;16344560 401898 Q6ZTB9 ABBA01029827;AC008543;AI623739;AK126753;AMYH02035536;BC137336;BC137337;BX089669;CH471106;DA519061;DA526679;DA919609;NR_028594 AAI37337;AAI37338;BAC86674;EAW84238;Q6ZTB9 Hs.672384 ZNF833 APPROVED pseudo HGNC:33819 18434 VALIDATED 1316121 ZNF831 zinc finger protein 831 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH cadmium atom 20 20 20 q13.32 54506716 54574808 + 57735895 57834168 + 59146159 59259113 + 6480464;8554872 11780052;12477932;18187620;19430479;19875103;21909110;21909115;23128233 128611 Q5JPB2 ABBA01005965;ABBA01005966;AL121919;AL713683;AL833682;AMYH02037380;BC033155;BQ007043;KF456965;NM_178457;XM_005260272;XM_005260273;XM_005260274;XM_005260275;XM_006723698 CAD28487;CAI46154;NP_848552;Q5JPB2;XP_005260329;XP_005260330;XP_005260331;XP_005260332;XP_006723761 Hs.473204 1342071;1722633;1727333;1784356 D20S171;G60400;G63074;SHGC-107411 C20orf174;dJ492J12.1 OTTHUMP00000031417;chromosome 20 open reading frame 174 protein-coding ENSG00000124203 HGNC:16167 PROVISIONAL 1602312 ZNF835 zinc finger protein 835 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH arsenite(3-) 19 19 19 q13.43 54217623 54226916 - 57173729 57183151 - 56662361 56671783 - 6480464;8554872 14702039 90485 M0QYX0;Q9Y2P0 ABBA01020830;AC007228;AK023017;AK299565;AMYH02036498;CH471135;DB536138;DC382896;NM_001005850;XM_005259382;XM_005259383 AAD23609;BAH13066;EAW72470;NP_001005850;Q9Y2P0;XP_005259439;XP_005259440 Hs.458438 1767562;2180263;5022383;5022578;5022651 D11S2921;D1S1423;ECD04345;G17694;WI-19547 BC37295_3 protein-coding ENSG00000127903 HGNC:34332 12521 VALIDATED 2293896 ZNF836 zinc finger protein 836 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH torcetrapib; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 q13.41 49707682 49724450 - 52658039 52674896 - 52154872 52171643 - 6480464 12477932;22505724 162962 M0QYS4;M0QZ88;M0R1N4;Q6ZNA1 ABBA01068261;AC010320;AC011468;AK131308;AMYH02036397;BC011784;BC049172;NM_001102657 BAD18474;NP_001096127;Q6ZNA1 Hs.631584 2134489 RH65995 FLJ16287 protein-coding ENSG00000196267 HGNC:34333 PROVISIONAL 2293901 ZNF837 zinc finger protein 837 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); choline (ortholog); folic acid (ortholog) 19 19 19 q13.43 55922985 55936382 - 58878990 58892389 - 58367623 58381022 - 6480464 12477932 116412 Q96EG3 ABBA01020771;ABBA01020772;AC012313;AMYH02036533;BC012365;BC029960;BX332043;BX374687;CH471135;NM_138466;NR_049780 AAH12365;EAW72579;NP_612475;Q96EG3 Hs.222236 1789200 G65599 protein-coding ENSG00000152475 HGNC:25164 VALIDATED 3322019 ZNF839P1 zinc finger protein 839 pseudogene 1 Y Y Y 6626809 6628084 - 21146996 21148271 + 18985110 18986385 + 100419733 ABBA01073708;AC009235;NG_021945 pseudo HGNC:38455 INFERRED 1604613 ZNF821 zinc finger protein 821 This gene encodes a protein with two C2H2 zinc finger motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization signal, suggesting that this protein interacts with chromosomal DNA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 16 16 16 q22.2 56207508 56231334 - 71893583 71918093 - 71859680 71884809 - 6480464;8554872 12477932;16189514;16344560;17207965;20379614;20795678;8619474;9110174 55565 H3BPS7;H3BQE4;H3BR59;H3BR75;H3BRD6;H3BS68;H3BTZ4;H3BVG7;O75541 ABBA01016789;ABBA01016790;AC009127;AC010653;AF070588;AK131336;AK296603;AK313693;AL538838;AMYH02032328;BC004563;BC012116;BC091492;CH471166;DA324992;NM_001201552;NM_001201553;NM_001201554;NM_001201556;NM_017530;XM_005256033;XM_005256035;XM_006721233 AAC28648;AAH12116;ADQ32310;BAG59216;EAW59210;EAW59211;EAW59212;EAW59213;EAW59214;EAW59215;EAW59216;EAW59217;EAW59218;EAW59219;NP_001188481;NP_001188482;NP_001188483;NP_001188485;NP_060000;O75541;XP_005256090;XP_005256092;XP_006721296 Hs.744055 1673239;1676990;5014051;5015619;5015861;5016596;5016700;5037552;7185938 D10S16;D11S3114;D16S2943;D8S2278;D8S2279;GDB:631802;RH15633;RH79802 FLJ16350 APPROVED protein-coding ENSG00000102984 HGNC:28043 14244 REVIEWED 2289737 ZNF826P zinc finger protein 826, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; arsenite(3-); valproic acid 19 19 19 p12 20415558 20441847 - 20578626 20607771 - 20398658 20424965 - 6480464 12477932;15146197;16344560;8889548 664701 Q6ZT77;Q8WVI3 ABBA01051352;AC008554;AC078899;AMYH02035778;AMYH02035779;AMYH02035780;AMYH02035781;AMYH02035782;AMYH02035783;AMYH02035784;AMYH02035785;AMYH02035786;AMYH02035787;BC016785;BC017970;BC022411;BC036006;BM678443;CN429809;DA183158;NR_036455 AAH17970;AAH22411;Q6ZT77 Hs.631635;Hs.732997 1666216;1783854 RH65402;SHGC-81051 FLJ44894;ZNF826 zinc finger protein 826 APPROVED pseudo HGNC:33875 VALIDATED 2298823 ZNF840P zinc finger protein 840, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 20 20 q13.12 41803725 41832694 + 45092309 45121279 + 100130863 A6NDX5 AL031686;CH471077;XM_001722110;XM_001722520 A6NDX5;EAW75736;XP_001722162;XP_001722572 C20orf157;ZNF840P;dJ981L23.3 putative zinc finger protein 840;zinc finger protein 840 (pseudogene);zinc finger protein 840, pseudogene APPROVED protein-coding HGNC:34344 1343787 ZNF839 zinc finger protein 839 ENCODES a protein that exhibits metal ion binding (inferred); INTERACTS WITH atrazine; copper(2+) sulfate; elemental selenium 14 14 14 q32.31 82840606 82863552 + 102783714 102809511 + 102317377 102343174 + 6480464 10508479;12477932;14702039;20936779;21832049;8125298 55778 A8K0R7;H0YKI3;H0YKY1;H0YLB6;H0YM06;H0YM94;H0YMU1;H0YNU6 ABBA01048481;ABBA01048482;ABBA01048483;ABBA01048484;ABBA01048485;AF155112;AK001994;AK093342;AK125678;AK127821;AK223312;AK289632;AL137229;AL137478;AL352978;AMYH02029895;AMYH02029896;AMYH02029897;BC006222;BC006228;BC042659;BC073137;BQ019232;BX248266;BX367536;CH471061;DB460089;NM_001267827;NM_001267828;NM_018335;XM_005267850;XM_006720202;XM_006720203 A8K0R7;AAD42878;AAH73137;BAA92026;BAD97032;BAF82321;BAG52694;BAG54234;BAG54578;CAB70759;CAD62594;EAW81781;EAW81782;EAW81783;EAW81784;NP_001254756;NP_001254757;NP_060805;XP_005267907;XP_006720265;XP_006720266 Hs.743359 1849667;2142011;2184832;5015879;5016478;5020948;5022450;5022588;5024035;5024761;5037552 A007E41;D10S275;D13S116;D14S1145;D5S1597E;D8S2279;G35510;GDB:314949;GDB:434012;RH36905;RH47332 C14orf131;FLJ11132 renal carcinoma antigen NY-REN-50 protein-coding ENSG00000022976 HGNC:20345 18532 VALIDATED 1606633 ZNF842 zinc finger protein 842 p13.2 12477932 403113 AC008758;AL554508;CB988846;NM_203381 NP_976315;Q6PEW9 Hs.546637 MGC71805 protein-coding HGNC:34380 14704 1351858 ZNF84 zinc finger protein 84 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 17beta-estradiol; aflatoxin B1; atrazine 12 12 12 q24.33 133314170 133340176 + 133613878 133639885 + 133037292 133063299 + 1580863;6480464;8554872 11856868;12477932;14702039;15489334;16344560;18029348;1945843;21890473;23000965;24250222;2505992 7637 F5H0T0;F5H1B1;F5H1R3;F5H3F5;F5H630;F5H6X5;J3KQ53;P51523 AA679683;ABBA01042532;ABBA01042533;AC073911;AK054847;AK055603;AK314232;AMYH02027598;AW665289;BC036656;BC048350;BC062552;BQ775424;BQ787271;CH471218;DA393198;DA663778;DA739478;DB074516;DB096505;DN601581;M27878;NM_001127372;NM_001289971;NM_001289972;NM_003428;X60156;XM_005266184;XM_005266185;XM_005266186;XM_006719747 AAA79359;AAH36656;AAH48350;AAH62552;BAG36902;CAB94232;EAW54799;EAW54800;EAW54801;EAW54802;NP_001120844;NP_001276900;NP_001276901;NP_003419;P51523;XP_005266241;XP_005266242;XP_005266243;XP_006719810 Hs.445019 1767887;2124455 D12S2113;RH78048 HPF2 OTTHUMP00000237384;OTTHUMP00000237385;OTTHUMP00000237386;OTTHUMP00000237387;OTTHUMP00000237388;OTTHUMP00000237389;OTTHUMP00000237390;OTTHUMP00000237393;zinc finger protein HPF2 protein-coding ENSG00000198040 HGNC:13159 15891 VALIDATED 2303672 ZNF841 zinc finger protein 841 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4,6-trinitrotoluene (ortholog) 19 19 19 q13.41 49617277 49648580 - 52567719 52599021 - 52064466 52095765 - 6480464;8554872 12477932;14702039;22505724;24280104 284371 M0QYV6;M0R0F3;Q6ZN19 ABBA01068262;AC011468;AK093512;AK094953;AK129938;AK131334;AK131409;AMYH02036395;BC136254;NM_001136499;XM_006723164 AAI36255;BAC04190;BAC85253;BAD18493;BAD18556;NP_001129971;Q6ZN19;XP_006723227 Hs.665751 1335859;1707636;1719197;5015861;5109281;7185938 D10S16;D19S601;D1S1425;RH123317;SHGC-81978 protein-coding ENSG00000197608 HGNC:27611 VALIDATED 2300359 ZNF843 zinc finger protein 843 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); choline (ortholog); folic acid (ortholog) 16 16 16 p11.2 28854038 28861497 + 31446885 31454348 - 31435564 31443027 - 6480464 12477932;24250222 283933 H3BQN5;Q8N446 ABBA01042095;AC026471;AK096248;AK291063;AMYH02031850;BC036762;NM_001136509 AAH36762;ADZ16091;BAF83752;BAG53240;NP_001129981;Q8N446 Hs.722243 5014019;5021872 D5S2354;sY3084 MGC46336 protein-coding ENSG00000176723 HGNC:28710 PROVISIONAL 2300035 ZNF844 zinc finger protein 844 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH paracetamol; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 19 19 19 p13.2 12069915 12083007 + 12175546 12188626 + 12064716 12081447 + 6480464 12477932;14702039;22505724 284391 F8VS19;F8WE48;Q08AG5 ABBA01029809;ABBA01029810;ABBA01029811;AC022415;AK027865;AK098117;AK299732;AL832297;AMYH02035543;BC125185;BC125186;CH471106;NM_001136501;XM_006722727;XM_006722728;XM_006722729 AAI25187;BAB55416;BAG53579;BAG61630;CAI46141;EAW84257;NP_001129973;Q08AG5;XP_006722790;XP_006722791;XP_006722792 Hs.646391 2185159;5014051;5015619;5015961;5016478;5022200;5022578;5022651;5037552;5109281 D11S2921;D11S3114;D15S1477;D1S1423;D1S1425;D8S2278;D8S2279;GDB:434012;L18426;RH48471 FLJ14959;MGC150553 OTTHUMP00000209834;OTTHUMP00000209835 protein-coding HGNC:25932 PROVISIONAL 2299184 ZNF847P zinc finger protein 847, pseudogene INTERACTS WITH 8-bromo-3',5'-cyclic AMP 1 1 q42.13 201076514 201077389 - 227884733 227885408 - 6480464 11891061 401983 Q8TDK4 AF387613;AL136378;NR_036753 AAL91354 Hs.681816 gm127 APPROVED pseudo HGNC:34384 VALIDATED 3378211 ZNF848P zinc finger protein 848, pseudogene 17 17 17 59743932 59745028 + 63172546 63173642 + 65176428 65177524 + 100380945 ABBA01029050;AC060771;AMYH02033803;NG_016731 APPROVED pseudo HGNC:34387 INFERRED 2301264 ZNF849P zinc finger protein 849, pseudogene 19 19 19 p12 22701018 22702552 + 22867595 22869129 + 22684793 22686327 + 100130108 ABBA01051415;AC011467;AC024563;AMYH02035827;NG_009810 APPROVED pseudo HGNC:34389 INFERRED 2298731 ZNF846 zinc finger protein 846 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; pirinixic acid; valproic acid 19 19 19 p13.2 9763557 9774816 - 9867845 9896834 - 9752387 9786158 - 6480464 12477932;14702039;21145461;22505724 162993 K7ELQ5;K7ELV4;K7EML1;K7EMP9;Q147U1 ABBA01029963;ABBA01029964;AC008752;AC008759;AK097652;AK289536;AK308938;AMYH02035475;BC037359;BC118576;BC118657;NM_001077624;XM_005259772;XM_005259773;XM_005259775;XM_005259776;XM_006722658;XR_430130 AAI18577;BAF82225;BAG53503;NP_001071092;Q147U1;XP_005259829;XP_005259830;XP_005259832;XP_005259833;XP_006722721 Hs.665717 protein-coding ENSG00000196605 HGNC:27260 VALIDATED 2302450 ZNF850 zinc finger protein 850 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; quercetin; valproic acid 19 19 19 q13.12 34018978 34048283 - 37234380 37263717 - 36743478 36772815 - 6480464 12477932;21139048 342892 A8MQ14;K7EJI8 ABBA01016197;AC020928;AC074138;AMYH02036023;AMYH02036024;AW440392;BC052603;BC136266;BC143637;CR627133;NM_001193552;NM_001267779;XM_005258857;XM_005258858;XM_006723185 A8MQ14;NP_001180481;NP_001254708;XP_005258914;XP_005258915;XP_006723248 Hs.406307 5014051;5015619;5016478;5020274;5020881;5022200;5022322;5022578;5022623;5022651;5037552 D11S2560;D11S2687;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;GDB:434012;L17709;L18426;L18441 ZNF850P putative zinc finger protein ENSP00000330994 APPROVED protein-coding ENSG00000267041 HGNC:27994 VALIDATED 1343266 ZNF85 zinc finger protein 85 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; copper(2+) sulfate; elemental selenium 19 19 19 p12 20940963 20968411 + 21106059 21133503 + 20923253 20950697 + 1580863;6480464;8554872 12477932;15342556;16341674;16344560;2023909;22505724;2505992;8467795;9406578;9839802 7639 M0QXL2;M0QY93;M0QZ75;M0QZN6;M0R0J7;M0R0V3;M0R120;M0R1W3;M0R385;Q03923;Q49A12;Q96HE0 ABBA01051362;AC008739;AI253261;AMYH02035796;AMYH02035797;BC008688;BC036394;BC047646;BC068066;BM755583;BP199573;CH471106;D70831;DB119881;DB524732;DC358791;DN994243;M61866;M61868;NM_001256171;NM_001256172;NM_001256173;NM_003429;NR_045830;U35376;XM_006722876;XM_006722877;XM_006726230;XM_006726231 AAA52689;AAA58671;AAA79179;AAH08688;AAH47646;AAH68066;BAA24050;EAW84882;EAW84883;NP_001243100;NP_001243101;NP_001243102;NP_003420;Q03923;XP_006722939;XP_006722940;XP_006726293;XP_006726294 Hs.37138 2159200;5492395 RH47808;UniSTS:480893 HPF4;HTF1;MGC78566 zinc finger protein 85 (HPF4, HTF1);zinc finger protein HPF4;zinc finger protein HTF1 protein-coding ENSG00000105750 HGNC:13160 04875 603899 VALIDATED 4891178 ZNF859P zinc finger protein 859, pseudogene 1 1 p33 50310324 50312161 + 49844652 49846489 + 100507490 ABBA01050789;AL591602;AMYH02000985;KF495939;NG_028931 pseudo HGNC:34507 INFERRED 1352668 ZNF86 zinc finger protein 86 (HPF5) 7640 HGNC:13161 2298810 ZNF852 zinc finger protein 852 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); FOUND IN nucleus (inferred) 3 3 3 p21.31 44478482 44490156 - 44539924 44552222 - 44498970 44510640 - 12477932;21890473;22505724;23000965;24250222 285346 Q6ZMS4 ABBA01024743;AC099669;AK131507;AK296954;AMYH02006646;BC014381;CH471055;DC398999;NM_001287349 BAG59499;EAW64710;NP_001274278;Q6ZMS4 Hs.648974 1662898;1662900 SHGC-34261;STS-R89287 OTTHUMP00000209916;putative zinc finger protein 852 protein-coding ENSG00000178917 HGNC:27713 VALIDATED 2302454 ZNF853 zinc finger protein 853 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INTERACTS WITH all-trans-retinoic acid; valproic acid 7 7 7 p22.1 6071259 6079652 - 6655398 6663921 + 6615896 6624290 + 6480464 12853948;18669648 54753 P0CG23 ABBA01056499;AC073343;AL133055;AL390175;AMYH02015179;CH236963;NM_017560 NP_060030;P0CG23 Hs.592170 2166398;5122153 G15982;GDB:4585282 DKFZp434J1015;DKFZp547K054 protein-coding ENSG00000236609 HGNC:21767 PROVISIONAL 2301111 ZNF860 zinc finger protein 860 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog); aflatoxin B1 (ortholog) 3 3 3 p23 31959854 31969707 + 32023266 32033228 + 31981774 31991736 + 6480464 16641997;21890473;22505724;23000965;24347629 344787 A6NHJ4 ABBA01024948;AC108485;AK294003;AMYH02006489;BQ268755;NM_001137674 A6NHJ4;BAG57365;NP_001131146 Hs.585139 FLJ60236 OTTHUMP00000208772 protein-coding ENSG00000197385 HGNC:34513 VALIDATED 1348551 ZNF87 zinc finger protein 87 (HPF6) 7641 HGNC:13162 2312695 ZNF861P zinc finger protein 861, pseudogene ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred) 19 19 19 p13.12 15830727 15832521 - 15932803 15934597 - 15821993 15823787 - 15057824 100302737 O60384 ABBA01051124;AC004510;AMYH02035665;NG_023047 AAC08455;O60384 APPROVED pseudo HGNC:34514 INFERRED 6769402 ZNF863P zinc finger protein 863, pseudogene 2 2 2 52143981 52145323 + 52303236 52304578 + 52076098 52077440 + 100419682 ABBA01075226;AC079304;AMYH02003822;NG_023689 pseudo HGNC:35156 INFERRED 4109409 ZNF865 zinc finger protein 865 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH pirinixic acid (ortholog) 19 19 19 q13.42 53167274 53170452 + 56114880 56129911 + 55613593 55618545 + 6480464 15057824;21139048;21890473 100507290 P0CJ78 ABBA01020862;AC008735;AMYH02036473;NM_001195605 NP_001182534;P0CJ78 Hs.729114 1668033;5020740;5021228;5022639;5024413 D11S2808;GDB:312794;L17809;L17877;RH78351 protein-coding ENSG00000261221 HGNC:38705 VALIDATED 2299992 ZNF862 zinc finger protein 862 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); protein dimerization activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; copper(2+) sulfate; ethyl methanesulfonate 7 7 7 q36.1 144204724 144233784 + 149535464 149564568 + 149838375 149867479 + 6480464;8554872 12477932;14702039;16344560;9628581 643641 C9JB70;O60290 AB011115;ABBA01033639;AC004877;AK054924;AK128787;AMYH02017055;BC041427;BC045757;BC092506;BC113087;BQ270712;DA724031;DA797323;NM_001099220;XM_005250037;XM_006716085;XR_242186 AAI13088;BAA25469;NP_001092690;O60290;XP_005250094;XP_006716148 Hs.731923 1669648;1676194;1732547;1751919;1773768;1775721;1850653;2165764;5037744 D1S3694;D7S1494;D7S2075E;GDB:4585091;GDB:4585488;RH92234;SHGC-105862;STS-H38953;WI-20747 FLJ30362;KIAA0543 OTTHUMP00000212606 protein-coding ENSG00000106479 HGNC:34519 PROVISIONAL 2303325 ZNF876P zinc finger protein 876, pseudogene ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); potassium dichromate (ortholog) 4 4 4 p16.3 147376 190760 + 206389 249774 + 212600 255985 + 6480464 12477932;15489334;15815621;16344560 642280 Q49A33 ABBA01019326;AC079140;AC108475;AMYH02008548;BC028359;BC046475;CH471131;DB024685;NR_027481 EAW82673;Q49A33 Hs.673877 1684186;1857042;2164814;5014051;5022578;5037552;5093574 A009S06;D1S1423;D4S90;D8S2278;D8S2279;G32799;SHGC-67308 MGC26356;MGC51010 APPROVED pseudo ENSG00000198155 HGNC:32472 VALIDATED 6481570 ZNF877P zinc finger protein 877, pseudogene 20 20 21246701 21247062 + 21266063 21266424 + 100873811 ABBA01054100;AL117332;AMYH02036813;NG_032730 pseudo HGNC:38697 INFERRED 1345964 ZNF88 zinc finger protein 88 (HPF8) 7642 HGNC:13163 3029695 ZNF879 zinc finger protein 879 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cyclosporin A 5 5 5 q35.3 174078027 174088704 + 178450776 178461388 + 179023775 179034387 + 6480464 22505724 345462 B4DU55;E5RGZ8;E5RI37;E5RJY9 ABBA01010011;ABBA01010012;AC104117;AK300504;AMYH02012869;BX114675;BX648737;DC350553;NM_001136116;XM_005265908 B4DU55;BAG62217;NP_001129588;XP_005265965 Hs.445740 1681983;1749883 RH93585;SHGC-111610 DKFZp686E2433 OTTHUMP00000224418;OTTHUMP00000224419;OTTHUMP00000224420 protein-coding HGNC:37273 PROVISIONAL 2298741 ZNF845 zinc finger protein 845 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 2,4,6-trinitrotoluene (ortholog); 2,4-dinitrotoluene (ortholog) 19 19 19 q13.42 50878376 50899500 + 53837002 53858122 + 53333747 53354869 + 6480464 12477932;14702039;21890473;22505724;23000965;24250222 91664 M0R2N3;Q96IR2 ABBA01068217;AC010467;AK096653;AK295079;AMYH02036424;BC007307;NM_138374;XM_005259401;XM_006723468;XM_006723469;XM_006723470 AAH07307;BAG58121;NP_612383;Q96IR2;XP_005259458;XP_006723531;XP_006723532;XP_006723533 Hs.720672 protein-coding ENSG00000213799 HGNC:25112 VALIDATED 3322018 ZNF884P zinc finger protein 884, pseudogene Y Y Y 7226952 7227754 - 22519500 22520302 - 20357614 20358416 - 100419729 ABBA01057426;AC009240;NG_021920 pseudo HGNC:38421 INFERRED 3322017 ZNF885P zinc finger protein 885, pseudogene Y Y Y 7265511 7266139 + 22558054 22558682 + 20396168 20396796 + 100419734 ABBA01057434;AC009240;NG_021946 pseudo HGNC:38456 INFERRED 3322021 ZNF886P zinc finger protein 886, pseudogene Y Y Y 5609951 5610474 + 22163074 22163597 - 20001188 20001711 - 100419728 ABBA01073820;AC009233;NG_021919 pseudo HGNC:38420 INFERRED 6482637 ZNF887P zinc finger protein 887, pseudogene 19 19 19 11653338 11656949 + 11759173 11762783 + 11648358 11651968 + 100419709 ABBA01029829;AC008543;AMYH02035535;NG_024217 ZNF887 pseudo HGNC:38700 INFERRED 7242309 ZNF891 zinc finger protein 891 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 12 12 q24.33 133696111 133707059 - 133119969 133130473 - 6480464 11181995;12477932;15489334;16344560;16541075 101060200 A8MT65 ABBA01042529;ABBA01042530;AC026786;AMYH02027598;BC017932;CH471218;DA004094;DB295002;NM_001277291;XM_006719734 A8MT65;EAW54793;NP_001264220;XP_006719797 Hs.614816 1703654 SHGC-78788 hCG1646157 protein-coding HGNC:38709 VALIDATED 1350332 ZNF90 zinc finger protein 90 ENCODES a protein that exhibits DNA binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH arsenite(3-); cadmium atom; paracetamol 19 19 19 p12 20093789 20136994 + 20188803 20231977 + 20077994 20121168 + 1580863;6480464;8554872 11181995;12477932;15146197;18029348;2023909;22505724;8467795 7643 F8WBQ5;F8WDJ7;Q03938 ABBA01051347;ABBA01051348;ABBA01051349;AC006539;AC011447;AK298173;AMYH02035774;BC137211;BX102781;CH471106;CN386341;M61870;NM_007138 AAA36028;AAI37212;BAG60444;EAW84871;EAW84872;NP_009069;Q03938 Hs.55304 1752651;1770698;2131892;2220430;7186918 D18S1237;D19S726;ERV3;SHGC-106499;UniSTS:481985 HTF9 OTTHUMP00000212590;OTTHUMP00000212591;OTTHUMP00000212593;zinc finger protein HTF9 protein-coding HGNC:13165 603973 VALIDATED 3207968 ZNF880 zinc finger protein 880 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN intracellular (inferred); INTERACTS WITH valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); aflatoxin B1 (ortholog) 19 19 19 q13.41 49922753 49939093 + 52873170 52889048 + 52369914 52392876 + 6480464;8554872 11827452;12477932;14702039;22505724 400713 F5H026;M0R0M5;Q6PDB4 ABBA01068256;ABBA01068257;AC010320;AC010332;AF086165;AF088022;AI754748;AK297834;AMYH02036400;BC013198;BC056265;BC058819;DC419753;NM_001145434;XM_006723220 AAH58819;BAG60168;NP_001138906;Q6PDB4;XP_006723283 Hs.502314 5014051;5037552 D8S2278;D8S2279 OTTHUMP00000237517;OTTHUMP00000237519;zinc finger protein LOC400713 protein-coding ENSG00000221923 HGNC:37249 VALIDATED 1354481 ZNF90P1 zinc finger protein 90 pseudogene 1 3 3 3 q13 99467745 99469085 + 101076137 101077477 + 101357293 101358633 + 8467795 7661 ABBA01061779;AC068764;AMYH02007313;NG_009580 ZNF108;ZNF108P APPROVED pseudo HGNC:12888 INFERRED 1354246 ZNF90P2 zinc finger protein 90 pseudogene 2 6 6 6 30462889 30463542 - 28856758 28857411 - 28888981 28889634 - 100419606 ABBA01038028;AL662859;AL662871;AMYH02013403;BX000360;BX119924;CR759942;CR936876;NG_025795 ZNF463P;dJ111M5.3 APPROVED pseudo HGNC:21687 INFERRED 3207633 ZNF878 zinc finger protein 878 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 2,4,6-trinitrotoluene (ortholog); 2,4-dinitrotoluene (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 p13.2 12048979 12061496 - 12154620 12163782 - 12043805 12052967 - 6480464;8554872 16344560;22505724 729747 C9JN71 ABBA01029814;ABBA01029815;AC022415;AMYH02035541;AMYH02035542;BQ222464;DA007842;KF456496;NM_001080404 C9JN71;NP_001073873 Hs.704229 2150038 D19S1067 OTTHUMP00000240919 protein-coding ENSG00000257446 HGNC:37246 PROVISIONAL 6481561 ZNF90P3 zinc finger protein 90 pseudogene 3 7 7 62547122 62548656 - 63086744 63088278 - 100873799 ABBA01006348;AC069285;AMYH02015807;NG_032367 pseudo HGNC:39882 INFERRED 4109179 ZNF888 zinc finger protein 888 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 19 19 19 q13.41 50457782 50470693 - 53409168 53426930 - 52905915 52923431 - 15057824 388559 P0CJ79 ABBA01068231;ABBA01068232;AC010487;AMYH02036412;AMYH02036413;AMYH02036414;CH471135;HG510998;XM_003960893;XM_005259451;XM_005275849;XM_006710049;XM_006710050;XM_006723522;XM_006723523;XM_006726778;XM_006726779;XM_006726780 EAW72103;P0CJ79;XP_003960942;XP_005259508;XP_005275906;XP_006710112;XP_006710113;XP_006723585;XP_006723586;XP_006726841;XP_006726842;XP_006726843 1684178;1753919 RH93828;SHGC-108139 CTD-2331H12.6 protein-coding HGNC:38695 MODEL 5013941 ZNF92P1Y zinc finger protein 92 pseudogene 1, Y-linked Y Y Y 1498831 1499964 + 7721751 7722884 - 7853710 7854843 - 100419554 ABBA01060169;AC007275;NG_024760 pseudo HGNC:39553 INFERRED 1347563 ZNF91 zinc finger protein 91 The ZNF91 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily (Bellefroid et al., 1991, 1993 [PubMed 2023909] [PubMed 8467795]).[supplied by OMIM, May 2010] 19 19 19 p12 23374928 23412675 - 23540498 23578269 - 23338616 23395527 - 1580863;6480464;8554872 11470777;15576338;16344560;16730941;17043677;19240061;19322201;2023909;21890473;22505724;23000965;2505992;8467795 7644 M0QX31;M0R186;Q05481 ABBA01051432;AC010300;AC016628;AC022409;AC093058;AI590336;AK291256;AK300294;AMYH02035839;CH471106;DB068854;DB219374;L11672;M61871;NM_001300951;NM_003430;XM_006722878;XM_006722879;XM_006722880;XM_006722881;XR_430154 AAA58672;AAA59469;BAF83945;BAH13252;EAW84940;NP_001287880;NP_003421;Q05481;XP_006722941;XP_006722942;XP_006722943;XP_006722944 Hs.654471 2218350;2220626;5014051;5022200;5037552;5113153;5124275 CDC42EP3_4534;D8S2278;D8S2279;L18426;RH27908;RH39080;UniSTS:486333 HPF7;HTF10 zinc finger protein 91 (HPF7, HTF10);zinc finger protein HPF7;zinc finger protein HTF10 APPROVED protein-coding ENSG00000167232 HGNC:13166 04916 603971 VALIDATED 5013938 ZNF92P2 zinc finger protein 92 pseudogene 2 19 19 19 22144854 22145372 - 22312604 22313122 - 22129802 22130320 - 100419705 ABBA01051403;AC073539;AMYH02035819;NG_024170 pseudo HGNC:39554 INFERRED 5013940 ZNF92P3 zinc finger protein 92 pseudogene 3 19 19 19 23961416 23962873 + 24117181 24118638 + 23934379 23935836 + 100419711 ABBA01051448;AC011503;AMYH02035849;NG_024255 pseudo HGNC:39555 INFERRED 3186102 ZNF883 zinc finger protein 883 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH all-trans-retinoic acid 9 9 9 q32 86192825 86207897 + 115759400 115774472 - 112997120 113012192 - 6480464 14702039;15164053;24250222 169834 P0CG24 ABBA01042692;AK095843;AL162588;AMYH02021496;CH878453;HG502353;NM_001101338 EAW50554;NP_001094808;P0CG24 Hs.192877 1699278;2154003 RH103221;RH66615 RP11-349F12.1 protein-coding HGNC:27271 VALIDATED 1350420 ZNF95 zinc finger protein 95 (F13463) 7648 HGNC:13171 1353363 ZNF94 zinc finger protein 94 (F11465) 7647 HGNC:13170 4889232 ZNF962P zinc finger protein 962, pseudogene 13 13 q11 19040459 19061552 - 18466319 18487412 - 15057823 729501 AL138715;AMYH02027600;NG_023215 pseudo HGNC:39250 INFERRED 6484651 ZNF968P zinc finger protein 968, pseudogene 6 6 6 29982439 29983464 - 28376002 28377027 - 28408225 28409250 - 100419756 ABBA01038018;AMYH02013394;NG_025794;Z98745 pseudo HGNC:44091 INFERRED 5133155 ZNF965P zinc finger protein 965, pseudogene 13 13 13 q11 378724 379433 + 19307859 19308568 + 18733719 18734428 + 100132598 AC245149;AL391382;NG_021967 pseudo HGNC:42025 INFERRED 1345315 ZNF93 zinc finger protein 93 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; arsenite(3-); cisplatin 19 19 19 p12 19917116 19951771 + 20011722 20046382 + 19900913 19935573 + 1580863;6480464 12477932;14702039;15057824;16341674;19247474;19742314;2023909;20379614;21890473;22082156;22505724;8467795 81931 K7EPG7;K7EPV7;K7EQ36;K7ES58;P35789;Q6NS90 ABBA01051344;AC007204;AC011477;AK022550;AK096342;AK295921;AMYH02035769;AMYH02035770;AMYH02035771;BC020837;BC038096;BC039001;BC058821;BC070372;BC107581;BC136718;BC136719;BG257405;BG289439;BG542138;BM842045;BU165449;CH471106;M61873;NM_031218 AAA83548;AAD22981;AAH70372;AAI07582;AAI36719;AAI36720;BAB14093;BAC04764;BAG58708;EAW84865;EAW84866;EAW84867;NP_112495;P35789 Hs.301059;Hs.723768 1655078;1672143 SGC30524;STS-F04238 HPF34;HTF34;TF34;ZNF505 zinc finger protein 505;zinc finger protein 93 (htf34);zinc finger protein HTF34 protein-coding ENSG00000184635 HGNC:13169 10334 603975 VALIDATED 6771203 ZNF969P zinc finger protein 969, pseudogene 4 4 4 q25 108631162 108632128 + 111337416 111339660 + 110416260 110418504 + 100130995 ABBA01063799;AC093872;AMYH02009910;NG_028847 pseudo HGNC:44211 INFERRED 1343613 ZNF97 zinc finger protein 97 (F6644) 7650 HGNC:13173 1348977 ZNF99 zinc finger protein 99 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog) 19 19 19 p12 22773279 22786805 - 22934985 22966973 - 22752183 22784171 - 6480464;8554872 12477932;8467795 7652 A8MXY4;Q8WTZ3 ABBA01051416;ABBA01051417;AC008626;AC024563;AMYH02035829;AMYH02035830;AMYH02035831;AMYH02035832;BC021822;HG510516;NM_001080409 A8MXY4;AAH21822;NP_001073878;Q8WTZ3 Hs.568380;Hs.737077 5015619;5015961;5037552;5109281 D11S3114;D15S1477;D1S1425;D8S2279 C19orf9;F8281;MGC24986 CTC-451A6.4;zinc finger protein ENSP00000375192 protein-coding HGNC:13175 603981 INFERRED 1352835 ZNF98 zinc finger protein 98 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN intracellular (inferred); nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 3,4-methylenedioxymethamphetamine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 p12 22406436 22437180 - 22573899 22605148 - 22391097 22422346 - 6480464;8554872 11181995;12477932;15057824;15489334;16344560;22331829;22505724;23064961;23259602;8467795 148198 A6NK75;M0QZH9;M0QZS3;M0R243 ABBA01051406;ABBA01051407;AC011494;AC011516;AMYH02035821;AMYH02035822;AMYH02035823;BC110576;BC129810;CH471106;NM_001098626 A6NK75;AAI10577;AAI29811;EAW84926;NP_001092096 Hs.667355 1750645;1775125;2220430;5492395;7186918 D19S1024;ERV3;SHGC-111956;UniSTS:480893;UniSTS:481985 F7175;MGC129634;ZNF739 zinc finger protein 739;zinc finger protein F7175 APPROVED protein-coding ENSG00000197360 HGNC:13174 603980 VALIDATED 6908311 ZNHIT1P1 zinc finger, HIT-type containing 1 pseudogene 1 8 8 8 q24.3 140249337 140249841 + 143939770 143940210 + 142858354 142858794 + 100288248 ABBA01005284;AC083841;AMYH02018928;NG_030258 pseudo HGNC:44474 INFERRED 1603622 ZNFX1 zinc finger, NFX1-type containing 1 ENCODES a protein that exhibits poly(A) RNA binding; ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH (-)-demecolcine; aflatoxin B1; benzo[a]pyrene 20 20 20 q13.13 44567051 44599361 - 47862437 47894756 - 49245897 49278219 - 6480464;8554872 10718198;11780052;12421765;12477932;14702039;15838384;16344560;20881960;21139048;21890473;21906983;21963094;24250222 57169 Q5JXR5;Q5JXR6;Q5JXR7;Q9P2E3 AB037825;ABBA01052741;AK000573;AK002139;AK022641;AK023836;AK096594;AK307392;AL049766;AMYH02037210;AU140771;BC014041;BC030789;BC041630;BC062347;BC110888;CH471077;DA809204;NM_021035;XM_006723836 AAH14041;AAH62347;AAI10889;AAI56358;AAI72478;BAA91264;BAA92102;BAA92642;BAB14149;BAB14696;EAW75661;EAW75662;EAW75663;EAW75664;NP_066363;Q9P2E3;XP_006723899 Hs.371794 1771836;2152448;2152521;2178242;5015619;5022322;5037552;5118444 AL030964;D11S2560;D11S3114;D11S3316;D8S2279;SHGC-33731;STS-N94383;Z94429 FLJ39275;MGC131926 NFX1-type zinc finger-containing protein 1;OTTHUMP00000031247;OTTHUMP00000043345;OTTHUMP00000063234 protein-coding ENSG00000124201 HGNC:29271 11142 VALIDATED 1347840 ZNF92 zinc finger protein 92 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; formaldehyde 7 7 7 q11.21 58576214 58603439 - 64838752 64866049 + 65373799 65401136 + 1580863;6480464 12477932;14702039;15342556;15489334;16344560;18029348;19913121;20211142;2023909;20379614;20628086;21890473;22505724;8467795;8889549 168374 C9IZS8;Q03936;V9HVY7 ABBA01008765;AC092685;AK091618;AK093566;AMYH02015878;BC036439;BC040594;BP284170;BX647875;CH471262;DA397874;DA637374;DA939471;DB342562;EU668348;M61872;NM_001287532;NM_001287533;NM_001287534;NM_007139;NM_152626;T52873;XM_006715861 AAA58673;AAH36439;AAH40594;ACF94501;BAC03708;EAW52301;NP_001274461;NP_001274462;NP_001274463;NP_009070;NP_689839;Q03936;XP_006715924 Hs.9521 2123094;2143481;2220430;2220626 G36174;SHGC-52453;UniSTS:481985;UniSTS:486333 HEL-203;HPF12;HTF12;TF12 OTTHUMP00000210086;OTTHUMP00000210087;epididymis luminal protein 203;zinc finger protein 92 (htf12);zinc finger protein HTF12 protein-coding ENSG00000146757 HGNC:13168 04919 603974 VALIDATED 1318185 ZNHIT1 zinc finger, HIT-type containing 1 ENCODES a protein that exhibits chromatin binding (inferred); histone deacetylase binding (inferred); metal ion binding (inferred); INVOLVED IN negative regulation of G0 to G1 transition (inferred); negative regulation of transcription from RNA polymerase II promoter (inferred); regulation of histone deacetylation (inferred); PARTICIPATES IN INO80 family mediated chromatin remodeling pathway; p53 signaling pathway; FOUND IN nucleus; INTERACTS WITH tert-butyl hydroperoxide; valproic acid; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 7 7 7 q22.1 95870143 95876630 + 100860985 100867471 + 101217704 101224190 + 1580863;6480464;8662965;9495926 20679336;21502417 12477932;12853948;14667819;14702039;15489334;15647280;17380123;17577209;17700068;17892483;18624398;20473270;21906983;24250222;24816145 10467 O43257 ABBA01011341;AC004876;AF093571;AK092478;AK125123;AK312136;AMYH02016403;BC001877;BC010454;BC017333;CH471197;CR456992;NM_006349;U61837 AAB88578;AAD45833;AAF03558;AAH17333;ABM83201;ABM86402;BAG35072;CAG33273;EAW50206;EAW50207;EAW50208;EAW50209;NP_006340;O43257 Hs.211079 1668370;1674848;1770674;5014740;5015404;5016781;5019070;5020946;5022651;5024413 D11S2921;D17S610;G44334;GDB:4585013;L17705;L17877;L17971;RH47378;SHGC-67307;WI-8602 CG1I;ZNFN4A1 H_DJ0747G18.14;OTTHUMP00000211494;cyclin-G1-binding protein 1;p18 Hamlet;p18Hamlet;putative cyclin G1 interacting protein;zinc finger HIT domain-containing protein 1;zinc finger protein subfamily 4A member 1;zinc finger protein, subfamily 4A (HIT domain containing), member 1;zinc finger, HIT domain containing 1;zinc finger, HIT type 1 APPROVED protein-coding ENSG00000106400 HGNC:21688 15892 VALIDATED 1348570 ZNHIT2 zinc finger, HIT-type containing 2 ENCODES a protein that exhibits metal ion binding (inferred); INTERACTS WITH amiodarone; benzo[a]pyrene; cadmium atom 11 11 11 q13 62210175 62211470 - 64883875 64885170 - 65116403 65117698 - 1580863;6480464 10602999;10873569;12477932;15489334;17643375;17656577;20360068;21906983;21963094;22505724;22939629;24816145;25036637;8125298 741 E9PQB8;Q9UHR6 ABBA01024136;AF119497;AK027081;AK223333;AK223358;AMYH02024953;AP003068;BC029825;BC038089;BC052240;BC057799;BC104002;BC104003;CH471076;NM_014205 AAF23591;AAH29825;AAH38089;AAH52240;BAD97053;BAD97078;EAW74352;NP_055020;Q9UHR6 Hs.121025 C11orf5;FON;MGC120285;MGC120286 OTTHUMP00000230419;zinc finger HIT domain-containing protein 2;zinc finger, HIT domain containing 2;zinc finger, HIT type 2 APPROVED protein-coding ENSG00000174276 HGNC:1177 05200 604575 VALIDATED 4109380 ZNF890P zinc finger protein 890, pseudogene 7 7 7 p22.1 5120165 5143290 - 5160941 5184177 - 5121310 5144546 - 11181995;12477932 645700 ABBA01039440;ABBA01039441;ABBA01039442;ABBA01039443;AC092028;AK295403;AMYH02015128;AMYH02015129;BC127664;CH471144;NR_034163 BAG58355;EAW87323 Hs.690815 1786404;2164505 D4S3184;SHGC-171979 pseudo ENSG00000159904 HGNC:38691 VALIDATED 1607024 ZNHIT6 zinc finger, HIT-type containing 6 ENCODES a protein that exhibits enzyme binding; identical protein binding; INVOLVED IN box C/D snoRNP assembly; FOUND IN extracellular vesicular exosome; pre-snoRNP complex; INTERACTS WITH cyclosporin A; ethyl methanesulfonate; formaldehyde 1 1 1 p22.3 84359216 84418317 - 86115106 86174116 - 85649423 85708433 - 6480464 12477932;12747765;14702039;15231748;15489334;16344560;16710414;17081983;17636026;19056867;19322201;19471022;20360068;20379614;21252943;21693764;21906983;21963094;22505724;23382074;24816145 54680 Q9NWK9 ABBA01045633;ABBA01045634;ABBA01045635;AC092807;AC099561;AF308296;AK000736;AK000767;AK022664;AK298149;AK314566;AL442074;AMYH02001386;AMYH02001387;AMYH02001388;BC026236;BC110898;BQ777734;BX323040;CH471097;DB169943;NM_001170670;NM_017953;XM_006710703 AAG48263;AAH26236;AAI10899;ABZ92340;BAA91349;BAA91371;BAG37148;BAG60425;CAC09440;EAW73194;EAW73195;NP_001164141;NP_060423;Q9NWK9;XP_006710766 Hs.5111 1648165;1675979;1691896;1697860;1709338;1710424;2119842;2143927 AL033600;G30290;G34875;RH102457;RH74983;SHGC-75096;SHGC-81667;SHGC-82504 BCD1;C1orf181;FLJ12602;FLJ20729;FLJ20760;MGC131963;NY-BR-75 OTTHUMP00000012302;box C/D snoRNA essential 1 homolog;box C/D snoRNA protein 1;serologically defined breast cancer antigen NY-BR-75;zinc finger HIT domain-containing protein 6;zinc finger, HIT type 6 APPROVED protein-coding ENSG00000117174 HGNC:26089 08630 VALIDATED 1605482 ZNRF2P1 zinc and ring finger 2 pseudogene 1 INTERACTS WITH cytarabine 7 7 7 p14.3 32752927 32754963 + 32767562 32769595 + 32727950 32729983 + 6480464 12477932;14702039 441208 ABBA01056849;AC018645;AK094370;AMYH02015485;BC126382;BC126384;NR_003502 BAC04341 Hs.510645 1700914 RH104084 APPROVED pseudo HGNC:42792 18648 PROVISIONAL 1352531 ZNRF2 zinc and ring finger 2 ENCODES a protein that exhibits ubiquitin-protein transferase activity; INVOLVED IN protein ubiquitination (inferred); FOUND IN cytoplasm; cytoplasmic vesicle membrane; plasma membrane; INTERACTS WITH valproic acid; vincristine; (S)-nicotine (ortholog) 7 7 7 p14.3 30313247 30396631 + 30323923 30407308 + 30284307 30367692 + 1580863;6480464 12690205;14561866;16215985;17081983;18615712;19322201;19690564;21139048;22797923;23444366 223082 H3BRR5;Q8NHG8 AACC02000087;ABBA01056812;ABBA01056813;AC006978;AF513707;AF527533;AK025240;AMYH02015453;AMYH02015454;AMYH02015455;AY054122;CH471073;KF458423;KF458426;NM_147128 AAI72400;AAL14867;AAM88868;AAQ08115;EAL24455;EAW93938;EAW93939;NP_667339;Q8NHG8 Hs.263912 1768108;2124248;2183875 BCD1593;D7S1904;D7S2912 RNF202 E3 ubiquitin-protein ligase ZNRF2;OTTHUMP00000123388;RING finger protein 202;protein Ells2;zinc finger/RING finger 2;zinc/RING finger protein 2 protein-coding ENSG00000180233 HGNC:22316 15894 612061 VALIDATED 1315114 ZNHIT3 zinc finger, HIT-type containing 3 ENCODES a protein that exhibits metal ion binding (inferred); thyroid hormone receptor binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); INTERACTS WITH copper(2+) sulfate; methyl methanesulfonate; 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 17 17 17 q12 31664561 31673750 + 34842471 34855154 + 36486627 36499310 + 1580863;6480464 11500849;11916906;12477932;15489334;17081983;19149918;19596656;20211142;20360068;21890473;21988832;7776974 9326 Q15649 AB209193;ABBA01012425;AC126327;AC233698;AC233700;AF400652;AK290858;AK308583;AK310022;AV763423;BC017931;BC105608;BE260293;BG032116;BI767446;BM457955;BQ009986;CB996852;CH471199;HY045632;L40410;NM_001281432;NM_001281433;NM_001281434;NM_004773;NR_104009;NR_104010;NR_104011 AAC41737;AAH17931;AAM82423;BAD92430;BAF83547;EAW57552;EAW57553;EAW57554;EAW57555;NP_001268361;NP_001268362;NP_001268363;NP_004764;Q15649 Hs.2210 1687638;1734524;1739647;1852981;2124875;5017227;5021045;5022578;5037552;5109281 D17S1459E;D17S1724E;D19S547;D1S1423;D1S1425;D8S2279;G38154;RH67774;RH91524;SHGC-31539 TRIP-3;TRIP3 HNF-4a coactivator;OTTHUMP00000164077;TR-interacting protein 3;thyroid hormone receptor interactor 3;thyroid receptor interacting protein 3;thyroid receptor-interacting protein 3;zinc finger HIT domain-containing protein 3;zinc finger, HIT domain containing 3;zinc finger, HIT type 3 APPROVED protein-coding ENSG00000273611 HGNC:12309 05139 604500 VALIDATED 1351679 ZNRD1 zinc ribbon domain containing 1 This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 6 p21.3 31627294 31630939 + 30029017 30032686 + 30061240 30064909 + 1580863;6480464;6907045;8554872 10662553;11130983;12477932;12795835;14574404;14726695;15358150;15489334;15662122;16189514;16341674;16713569;17389617;17492506;17709345;18058465;18187620;18564169;18594968;18982067;19050382;19115949;19693088;19851445;20041166;20192730;20211142;20587610;21080911;21988832;22697009;23453885;23874430;23893241;24489884;8125298;8938444 30834 Q2L6J2;Q9P1U0 AB202082;ABBA01038041;AF024616;AF024617;AF230337;AF230338;AF238320;AF238321;AK225874;AL669914;AL671859;AL845439;AMYH02013426;BC010898;BC050608;BC051741;BG503963;BM798114;BQ690150;BX088647;BX927229;CH471081;CR388205;CR457109;CR759763;CR759960;DN996443;HY071776;NM_001278785;NM_001278786;NM_014596;NM_170783;NR_103864;U53588 AAF40469;AAG50159;AAG50160;AAH10898;AAH50608;ABZ92022;BAE78600;CAG33390;EAX03250;EAX03251;EAX03252;NP_001265714;NP_001265715;NP_055411;NP_740753;Q9P1U0 Hs.57813 HTEX-6;MGC13376;Rpa12;TEX6;ZR14;hZR14;tctex-6 DNA-directed RNA polymerase I subunit RPA12;OTTHUMP00000029203;OTTHUMP00000029204;OTTHUMP00000161285;OTTHUMP00000161286;RNA polymerase I small specific subunit Rpa12;transcription-associated zinc ribbon protein;zinc ribbon domain containing, 1;zinc ribbon domain-containing protein 1 APPROVED protein-coding ENSG00000066379 HGNC:13182 09601 607525 REVIEWED 5486545 ZNRF2P2 zinc and ring finger 2 pseudogene 2 7 7 7 29713889 29714938 - 29724388 29725437 - 29684772 29685821 - 16344560;9847074 100271874 ABBA01056801;AC007276;AMYH02015446;DA806488;DB453291;DB496596;NR_027347 Hs.729709;Hs.742012 pseudo HGNC:42793 PROVISIONAL 1351959 ZNRD1-AS1 ZNRD1 antisense RNA 1 INTERACTS WITH (+)-catechin; hydralazine; valproic acid 6 6 6 p22.1 31566992 31627219 - 29968788 30028961 - 30001011 30061184 - 1304547;6480464 11130983 12477932;19851445;20041166;21900946;22286219;25110835;9553157 80862 Q2KJ03;Q6ZU40 ABBA01038041;AF032109;AF032110;AF032111;AF238323;AK126001;AL645935;AL669914;AL671277;AL671859;AL845439;AL845454;AMYH02013426;BC034573;BC067890;BC112395;BX005091;BX088647;BX120004;BX648746;BX927229;CR388205;CR759763;CR759943;CR759960;CR933629;HG499095;HG499096;NR_026751 BAC86387;Q2KJ03 Hs.653168 1298191;1678429;1685449;1686024;1700972;1701310;1786098;1786132;1786134;1852219;2141474;2220120;5095139;7185877;7185879;7185881;7187267;7187406;7204145;7204147 AFM101xa1;AluyHJ_162(no_Alu);D6S265;D6S2853;RH104113;RH104284;RH41003;RH79934;SHGC-171709;SHGC-172556;SHGC-172558;STS-M80468;WI-16058 C6orf12;HTEX4;NCRNA00171;TCTEX4;ZNRD1-AS;ZNRD1AS APPROVED ncrna ENSG00000204623 HGNC:13924 615714 VALIDATED 7251913 ZNRF2P3 zinc and ring finger 2 pseudogene 3 10 10 10 q22.3 75732176 75733296 + 81741233 81742353 + 79981477 79982597 + 100130879 ABBA01003818;AL512662;AMYH02023413;NG_011590 pseudo HGNC:45113 INFERRED 6481211 ZNRF3-AS1 ZNRF3 antisense RNA 1 22 22 29420987 29427473 - 29024999 29031476 - 14702039 100874123 ABBA01055254;AK095488;AL021393;AMYH02038197;HG512192;NR_046851 Hs.674708 5015619;5020946;5037552 D11S3114;D8S2279;L17971 FLJ38169 APPROVED ncrna ENSG00000177993 HGNC:41927 PREDICTED 6481051 ZNRF3-IT1 ZNRF3 intronic transcript 1 (non-protein coding) q12.1 100874339 AL021393;Z95113 ncrna HGNC:41440 1342950 ZNRF3 zinc and ring finger 3 ENCODES a protein that exhibits frizzled binding; ubiquitin-protein transferase activity; INVOLVED IN negative regulation of canonical Wnt signaling pathway; negative regulation of non-canonical Wnt signaling pathway; protein ubiquitination; PARTICIPATES IN Wnt signaling, canonical pathway; ASSOCIATED WITH Melanoma (inferred); FOUND IN integral component of plasma membrane; INTERACTS WITH arsenous acid; benzo[a]pyrene; benzo[a]pyrene diol epoxide I 22 22 22 q12.1 13079876 13253406 + 29279755 29453476 + 28883767 29057488 + 6480464;7365105;8554872 23151663 10574461;10591208;11181995;12168954;12477932;14702039;15461802;15489334;16713569;19690564;19913121;20628086;20935629;22575959;23504200;23670221;24165923;24225776;24639526 84133 Q9ULT6 AB051436;ABBA01055249;ABBA01055250;ABBA01055251;ABBA01055252;ABBA01055253;ABBA01055254;AI244417;AK022809;AK025710;AK096397;AL021393;AL031596;AMYH02038194;AMYH02038195;AMYH02038196;AMYH02038197;BC009252;BC021570;BC042614;BC051344;BC069019;BC094857;CH471095;CR456397;KF457399;NM_001206998;NM_032173;XM_005261773;XM_005261774;XM_006724333;Z95113 AAH09252;AAH21570;AAH69019;AAH94857;AAI67805;BAB33319;BAG53280;CAG30283;CAK54386;CAK54685;EAW59767;EAW59768;EAW59769;EAW59770;NP_001193927;NP_115549;Q9ULT6;XP_005261830;XP_005261831;XP_006724396 Hs.604200;Hs.655242;Hs.732114 1662592;1674704;1690470;1693674;1717351;1747349;1747351;1747353;1747355;1747357;1747359;1747361;1756305;2125479;2127756;2152839;2186888;5037552 AFMA163XB9;D22S56;D8S2279;G29163;G65402;G65403;G65404;G65405;G65406;G65407;G65408;RH122166;RH45989;RH93409;SHGC-143256;SHGC-58601;STS-T95789;WI-20033 BK747E2.3;RNF203 E3 ubiquitin-protein ligase ZNRF3;OTTHUMP00000198936;OTTHUMP00000198937;OTTHUMP00000198938;RING finger protein 203;novel C3HC4 type Zinc finger (ring finger);zinc/RING finger protein 3 protein-coding ENSG00000183579 HGNC:18126 612062 VALIDATED 1345671 ZNRF4 zinc and ring finger 4 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN cytoplasm (inferred); integral component of membrane (inferred); INTERACTS WITH cadmium dichloride (ortholog); valproic acid (ortholog) 19 19 19 p13.3 5392967 5394408 + 5455426 5456867 + 5455415 5456856 + 1580863;6480464;8554872 10191088;12477932;15057824;15489334;19690564;21205830 148066 Q8WWF5 ABBA01056010;AC005764;AK098722;AK292251;AMYH02035326;BC017592;CH471139;HC007388;HC044533;NM_181710 AAC62428;AAH17592;BAF84940;CBH19499;CBH30596;EAW69169;NP_859061;Q8WWF5 Hs.126496 RNF204;Ssrzf1;spzn RING finger protein 204;SPERIZIN;zinc/RING finger protein 4 protein-coding ENSG00000105428 HGNC:17726 15895 612063 VALIDATED 735363 ZP2 zona pellucida glycoprotein 2 (sperm receptor) The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed of three glycoproteins with various functions during fertilization and preimplantation development. The glycosylated mature peptide is one of the structural components of the zona pellucida and functions in secondary binding and penetration of acrosome-reacted spermatozoa. Female mice lacking this gene do not form a stable zona matrix and are sterile. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] 16 16 16 p12 20518619 20532706 - 21208773 21225831 - 21197452 21214510 - 1580863;6480464;8554872 10493829;10570015;10864856;10924747;11739644;11751269;11784014;11804956;11854410;11940668;12477932;12852850;14511786;15489334;15950651;16407501;17474147;18033806;22889493;23417405;24934154;8385033 7783 Q05996 ABBA01028294;AF001550;AK293805;AK308820;AK310454;AK313003;AMYH02031675;BC096304;BC096305;BC096306;BC096307;CH471228;M90366;NM_001290104;NM_003460;XM_005255562;XM_006721090 AAA61335;AAB67599;AAH96304;AAH96305;AAH96306;AAH96307;BAG35839;BAG57212;EAW66859;EAW66860;NP_001277033;NP_003451;Q05996;XP_005255619;XP_006721153 Hs.73982 1789330;2164563 G67892;RH71391 ZPA;Zp-2 OTTHUMP00000115849;zona pellucida glycoprotein ZP2;zona pellucida protein A;zona pellucida sperm-binding protein 2 APPROVED protein-coding ENSG00000103310 HGNC:13188 01689 182888 REVIEWED 1345250 ZP4 zona pellucida glycoprotein 4 The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. Previously, this gene has been referred to as ZP1 or ZPB and thought to have similar functions as mouse Zp1. However, a human gene with higher similarity and chromosomal synteny to mouse Zp1 has been assigned the symbol ZP1 and this gene has been assigned the symbol ZP4. [provided by RefSeq, Jul 2008] 1 1 1 q43 211290655 211303716 - 238041164 238054222 - 237877864 237890922 - 1580863;6480464;8554872 10864856;11053263;11291774;11804956;11854410;11940668;12477932;15142998;15489334;15805145;15950651;16407501;16710414;17554300;18029348;18667750;19004505;19625618;19626040;20379614;20708005;21173071;7841460 57829 Q12836 ABBA01033184;ABBA01033185;AK314151;AL359924;AMYH02002995;AMYH02002996;BC069521;BE439656;CH471098;DV080723;NG_008799;NM_021186;U05781 AAA74391;AAH69521;BAG36838;EAW70072;NP_067009;Q12836 Hs.136241 1858480;5111343 SHGC-76534;SHGC-76577 ZBP;ZP1;ZPB;Zp-4 OTTHUMP00000037567;zona pellucida B protein;zona pellucida protein B;zona pellucida sperm-binding protein 4 APPROVED protein-coding ENSG00000116996 HGNC:15770 18363 613514 REVIEWED 1603918 ZPBP2 zona pellucida binding protein 2 INVOLVED IN acrosome assembly (inferred); binding of sperm to zona pellucida (inferred); FOUND IN nucleus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine (ortholog); fipronil (ortholog); paracetamol (ortholog) 17 17 17 q12 34684720 34694413 + 38024417 38034149 + 39868164 39877896 + 6480464 12477932;12883658;15489334;16344560;17664285;19732864;20639880;21102463;21297633;22271045;22464253;23000144;23128233;24315451 124626 J3KRM0;J3KSF6;Q6X784 ABBA01031852;AC079199;AC090844;AK292383;AMYH02033388;AMYH02033389;AY251603;AY251604;BC043152;CH471152;DB056422;HC007392;HC044535;NM_198844;NM_199321;XM_005257031 AAH43152;AAP83950;AAP83951;BAF85072;CBH19501;CBH30597;EAW60610;EAW60611;NP_942141;NP_955353;Q6X784;XP_005257088 Hs.367245 2110837 ZPBP2__4726 MGC41930;ZPBPL OTTHUMP00000163979;OTTHUMP00000163980;ZPBP-like protein;zona pellucida binding protein-like;zona pellucida-binding protein 2 protein-coding ENSG00000186075 HGNC:20678 18365 608499 VALIDATED 1606973 ZPLD1 zona pellucida-like domain containing 1 ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN integral component of membrane (inferred); INTERACTS WITH medroxyprogesterone acetate; trichostatin A; valproic acid 3 3 3 q12.3 100549115 100593973 + 101928816 102198685 + 102209972 102479841 + 6480464;8554872 12477932;18632209;20237496;20950786;21490949;23192594;23834954 131368 Q8TCW7 ABBA01061760;AC022324;AC069529;AC109778;AC117438;AMYH02007321;AMYH02007322;AY090780;BC021279;BC031261;BC143817;CH471052;NM_175056;XM_005247110 AAH21279;AAH31261;AAM09816;EAW79766;NP_778226;Q8TCW7;XP_005247167 Hs.352213 1337809;1757929;1760157;2143323;5493923 AB070185;D3S2459;D3S2970;SHGC-132262;SHGC-146878 OTTHUMP00000214440;OTTHUMP00000214467;OTTHUMP00000214470;ZP domain-containing protein 1;zona pellucida-like domain-containing protein 1 protein-coding ENSG00000170044 HGNC:27022 14048 615915 PROVISIONAL 1349961 ZNRF1 zinc and ring finger 1, E3 ubiquitin protein ligase This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012] 16 16 16 q23.1 59325881 59437794 + 75032915 75144892 + 74999017 75110994 + 1580863;6480464 11076863;11230166;11256614;11427537;12477932;14561866;14702039;15489334;15489336;16381901;19549727;19690564;19737534;19844255;21139048;22797923;23665963 84937 H3BRB6;H3BUF0;J3KTB9;Q8ND25 ABBA01058121;ABBA01058122;ABBA01058123;AC092383;AC099508;AF378524;AK027752;AK094870;AK128349;AK294434;AL136903;AL390144;AL834440;AMYH02032391;AMYH02032392;AX961904;BC007235;BQ884230;CH471114;HC309814;NM_032268 AAH07235;AAK69753;ABZ92077;BAG57678;CAB66837;CAD39100;CAF06461;CAL37666;CBJ21214;EAW95668;EAW95669;EAW95670;EAW95671;NP_115644;Q8ND25 Hs.427284 1651556;1660511;1668518;1691112;1694526;1698440;1707592;1722063;1738813;2153096;2168608;2181666;2218696 A004T26;D16S2877;D16S3184;G43020;G59919;RH102768;RH36321;RH64877;RH68389;RH68472;SHGC-61187;SHGC-84608;ZNRF1__4725 DKFZp434E229;FLJ14846;FLJ46491;MGC15430;NIN283 E3 ubiquitin-protein ligase ZNRF1;OTTHUMP00000174944;OTTHUMP00000174945;nerve injury gene 283;nerve injury-induced gene 283 protein;zinc and ring finger protein 1;zinc/RING finger protein 1 APPROVED protein-coding ENSG00000186187 HGNC:18452 15893 612060 REVIEWED 5683658 ZRANB2-AS1 ZRANB2 antisense RNA 1 1 1 1 p31.1 69801409 69822102 + 71512189 71532867 + 71046506 71067184 + 12477932 100132618 ABBA01074473;AL031429;AL512443;AMYH02001247;BC070115;HG492165;NR_038420 Hs.720513 1645191;1654638;1668191;1736072;1793168;1853672;2145613;2154062;2171639 D1S2013E;PMC197251P3;RH17537;RH35994;RH47523;RH64689;RH68214;RH68377;SHGC-36432 RP11-108P2.1 APPROVED ncrna HGNC:43594 VALIDATED 1323503 ZPR1 ZPR1 zinc finger ENCODES a protein that exhibits translation initiation factor binding; INVOLVED IN axon development; Cajal body organization; cellular response to epidermal growth factor stimulus; FOUND IN Cajal body; cytoplasm; Gemini of coiled bodies; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; cobalt dichloride; cyclosporin A 11 11 11 q23.3 113804668 113814129 - 116649276 116658739 - 116778560 116788023 - 1580863;6480464 10938113;11283611;12095920;12477932;15489334;15767679;16169070;16236267;17068332;18179892;18193043;19060906;19913121;20442857;20628086;20657596;20686565;20691829;20864672;21139048;21378990;21386085;21729881;21890473;21906983;21909109;21963094;21988832;22003152;22053931;22359512;22399527;22422766;22437554;22505724;22623978;22863883;22916037;22939629;23251661;23505323;23726366;24097068;24178511;24262325;24618354;24816145;25015289;8650580;9763455;9852145 8882 F8WBC5;H7BZM7;H7BZS1;H7C0E5;H7C449;O75312 ABBA01039747;ABBA01039748;AF019767;AK301227;AMYH02025621;AP006216;BC004256;BC011929;BC012162;BC017349;BC017380;BC111028;BT006642;CH471065;NM_003904 AAC33514;AAH04256;AAH12162;AAH17349;AAH17380;AAI11029;AAP35288;BAG62800;EAW67267;EAW67268;NP_003895;O75312 Hs.7165 1650930;1672575;1694180;1799606;1801316;1805704;1806114;1820262;1824246;1824706;1826576;1826668;1826864;1828132;1830118;1834922;2004392;2004394;2004396;2004398;2004400;2004402;2004404;2004406;2004408;2004410;2004412;2004414;2004416;2004418;2004420;2004422;2004424;2004426;2004428;2004430;2004432;2004434;2004436;2004438;2004440;2004442;2004444;2004446;2004448;2004450;2004452;2004454;2004456;2004458;2004460;2004462;2004464;2004466;2004468;2004470;2004472;2004474;2004476;2004478;2004480;2004482;2096898;2096900;2096902;2096904;2096906;2096908;2096910;2096912;2096914 AL008751;D11S1169;ECD00655;ECD01530;ECD03802;ECD04011;ECD11205;ECD13220;ECD13451;ECD14402;ECD14448;ECD14547;ECD15189;ECD16192;ECD18612;REN73108;REN73109;REN73110;REN73111;REN73112;REN73113;REN73114;REN73115;REN73116;REN73117;REN73118;REN73119;REN73120;REN73121;REN73122;REN73123;REN73124;REN73125;REN73126;REN73127;REN73128;REN73129;REN73130;REN73131;REN73132;REN73133;REN73134;REN73135;REN73136;REN73137;REN73138;REN73139;REN73140;REN73141;REN73142;REN73143;REN73144;REN73145;REN73146;REN73147;REN73148;REN73149;REN73150;REN73151;REN73152;REN73153;SHGC-30085;stSG601767;stSG601768;stSG601769;stSG601770;stSG601771;stSG601772;stSG601773;stSG601774;stSG601775 MGC110983;ZNF259 OTTHUMP00000043269;OTTHUMP00000069349;OTTHUMP00000069350;zinc finger protein 259;zinc finger protein ZPR1 APPROVED protein-coding HGNC:13051 04877 603901 PROVISIONAL 736628 ZRANB2 zinc finger, RAN-binding domain containing 2 ENCODES a protein that exhibits poly(A) RNA binding; INVOLVED IN mRNA processing (inferred); regulation of transcription, DNA-templated (inferred); RNA splicing (inferred); FOUND IN nucleus; INTERACTS WITH 2-methylcholine; copper(2+) sulfate; disodium selenite 1 1 1 p31 69818209 69836213 - 71528974 71546972 - 71063291 71081289 - 1580863;6480464 10773668;11230166;11337467;11448987;12477932;12657633;14559993;14702039;15302935;15489334;16344560;16982639;17081983;17353931;17620012;17620599;19052380;19615732;21139048;21145461;21907836;21988832;22113938;22379092;22863883;22939629;23184937;23602568;23666063;24035498;24816145;8125298;8889548;9931435 9406 O95218;Q68DP0 AB209568;ABBA01074473;AF065391;AF065392;AK023252;AK055983;AK123114;AK222858;AL136945;AL512443;AMYH02001247;AU100296;BC010962;BC033648;BC039814;BU677906;BX538141;CH471059;CR749325;CR749665;DA523601;NM_005455;NM_203350;XR_246307 AAD09746;AAD09747;AAH39814;ABZ92458;BAD92805;BAD96578;CAB66879;CAH18180;CAH18456;EAX06432;EAX06433;EAX06434;EAX06435;NP_005446;NP_976225;O95218 Hs.194718 1645191;1654638;1668191;1736072;1853672;2145613;2154062;2156389;2171639 D1S2013E;RH17537;RH35994;RH47523;RH64636;RH64689;RH68214;RH68377;SHGC-36432 DKFZp686J1831;DKFZp686N09117;FLJ41119;ZIS;ZIS1;ZIS2;ZNF265 OTTHUMP00000011240;OTTHUMP00000011241;zinc finger Ran-binding domain-containing protein 2;zinc finger protein 265;zinc finger, splicing;zinc-finger protein 265;zinc-finger, splicing protein-coding ENSG00000132485 HGNC:13058 09185 604347 VALIDATED 1347809 ZP1 zona pellucida glycoprotein 1 (sperm receptor) The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014] 11 11 11 q12.2 57995899 58004048 + 60635015 60643164 + 60867542 60875691 + 6480464;8699517;7240710;8554872 10542331;12477932;15142998;15461625;15860499;16554811;18033806;19423540;20406964;20438785;20504872;20532885;20831819;22889493;24670168;7592984 22917 H0YG11;P60852;V9HWI9 ABBA01021516;AC004126;AI208352;AI766401;AMYH02024876;AP000777;BC067899;CH471076;CR741030;EU794684;KF455399;NG_034138;NM_207341 AAH67899;ACJ13738;EAW73903;NP_997224;P60852 Hs.172130 5113431 RH92237 HEL163;MGC87693;OOMD;zp-1 OTTHUMP00000236890;epididymis luminal protein 163;zona pellucida protein 1;zona pellucida sperm-binding protein 1 protein-coding ENSG00000149506 HGNC:13187 15953 195000;615774 REVIEWED 1318817 ZRANB1 zinc finger, RAN-binding domain containing 1 ENCODES a protein that exhibits K63-linked polyubiquitin binding; ubiquitin thiolesterase activity; ubiquitin-specific protease activity; INVOLVED IN cell migration; cytoskeleton organization; positive regulation of Wnt signaling pathway; ASSOCIATED WITH Lung Neoplasms (inferred); FOUND IN cytoplasm; nucleus; INTERACTS WITH all-trans-retinoic acid; arsenous acid; cadmium dichloride 10 10 10 q26.13 120404500 120449814 + 126605704 126676005 + 124917135 124988059 + 1580863;6480464;8554872 11463333;12477932;18029348;18281465;19373254;19615732;20622874;21139048;21906983;21987572;22157957;23000965;23277359;23827681;24768539 54764 Q9UGI0 ABBA01034159;ABBA01034160;ABBA01034161;AJ252060;AK302810;AK307386;AL731571;AL731577;AL832925;AMYH02023987;BC048281;CH471066;HG503330;NM_017580;XM_005269925;XM_005269926;XM_005269927;XM_006717907 AAI52729;BAG64010;CAB64449;CAH10620;EAW49252;EAW49253;NP_060050;Q9UGI0;XP_005269982;XP_005269983;XP_005269984;XP_006717970 Hs.595158 1653489;2114392;2139310;2140343;2158804;2170169 RH47020;SGC38118;SHGC-30414;SHGC-36008;SHGC-36286;STS-H24463 DKFZp762P2216;RP11-298J20.4 OTTHUMP00000020698;TRABID;TRAF-binding domain-containing protein;TRAF-binding protein domain;hTrabid;ubiquitin thioesterase ZRANB1;zinc finger Ran-binding domain-containing protein 1 protein-coding ENSG00000019995 HGNC:18224 11738 611749 VALIDATED 5683643 ZRANB2-AS2 ZRANB2 antisense RNA 2 (head to head) 1 1 p31.1 71547007 71703406 + 71081324 71237723 + 12477932;16341674 100852410 ABBA01074472;ABBA01074473;AL360297;AL512443;AMYH02001247;AMYH02001248;BC054887;BM766420;NR_046217 Hs.535534 APPROVED ncrna ENSG00000229956 HGNC:43595 VALIDATED 1347508 ZRSR1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 ENCODES a protein that exhibits metal ion binding (inferred); nucleotide binding (inferred); RNA binding (inferred); ASSOCIATED WITH Adenomatous Polyposis Coli (inferred); Melanoma (inferred); FOUND IN nucleus (inferred); ribonucleoprotein complex (inferred); INTERACTS WITH (-)-epigallocatechin 3-gallate; acetaldehyde; potassium chromate 5 5 5 q22.2 108172866 108174347 + 112227313 112228794 + 112891616 112893097 + 1580863;6480464;8554872 11118443;12477932;12558503;15489334;16305817;21166792;7956352;8586425;8630064;9001233;9237760;9490301 7310 Q15695 ABBA01069051;AC008536;AMYH02011979;BC104811;BC113599;D49676;NG_005419;U51224 AAA98669;BAA08532;Q15695 Hs.637001 1646623;1680677;2146750;5493265 RH71327;RH71328;RH80911;UniSTS:485519 FLJ94140;MGC142159;U2AF1-RS1;U2AF1L1;U2AF1P;U2AF1RS1;U2AFBPL u2(rnu2) small nuclear rna auxillary factor 1-like 1 pseudo HGNC:12456 03049 601079 INFERRED 1346488 ZSCAN1 zinc finger and SCAN domain containing 1 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH 1,3-dinitrobenzene (ortholog); 2,4-dinitrotoluene (ortholog); 2,6-dinitrotoluene (ortholog) 19 19 19 q13.43 55588926 55609487 + 58545434 58565999 + 58034066 58054631 + 737633;1580863;6480464;8554872 12477932 14702039;15489334;18029348;20211142;21832049;22094256;23275563 284312 Q8NBB4 ABBA01020786;ABBA01020787;AC008751;AC008969;AK091098;AMYH02036527;AY280370;BC048099;BC107729;CH471135;NM_182572;XM_006723149 AAH48099;AAI07730;AAQ16582;BAC03582;EAW72550;EAW72551;NP_872378;Q8NBB4;XP_006723212 Hs.643437 1709198;2110839 SHGC-85778;ZSCAN1__4727 FLJ33779;MGC104472;MZF-1;ZNF915 zinc finger and SCAN domain-containing protein 1;zinc finger with SCAN domain 1 protein-coding ENSG00000152467 HGNC:23712 15897 VALIDATED 1346246 ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq, Jul 2008] X X X p22.1 19926058 19958865 + 15808574 15841383 + 15790451 15823260 + 1580863;6480464 10330123;10508479;12477932;14702039;15146077;15489334;17081983;19204726;21041408;21832049;22389253;23602568;24250222;24816145;8586425;9237760 8233 A6NDW0;Q15696 ABBA01071352;ABBA01071353;ABBA01071354;ABBA01071355;ABBA01071356;ABBA01071357;ABBA01071358;ABBA01071359;AC004106;AC096510;AK090845;AK309673;AMYH02038920;BC050451;BC065719;BC113454;BC113480;CH471074;D49677;NG_012746;NM_005089;XM_005274597;XM_006724519;XM_006724520 AAH50451;AAI13455;AAI13481;ADR83329;BAA08533;EAW98900;EAW98901;EAW98902;NP_005080;Q15696;XP_005274654;XP_006724582;XP_006724583 Hs.171909 1680677;2146750;5014051 D8S2278;RH71328;RH80911 MGC142014;MGC142040;U2AF1-RS2;U2AF1L2;U2AF1RS2;URP CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 2;OTTHUMP00000022976;U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2;U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 2;U2(RNU2) small nuclear RNA auxiliary factor 1-like 2;U2AF35-related protein;renal carcinoma antigen NY-REN-20 APPROVED protein-coding ENSG00000169249 HGNC:23019 02068 300028 REVIEWED 1349256 ZRANB3 zinc finger, RAN-binding domain containing 3 ENCODES a protein that exhibits annealing helicase activity; endodeoxyribonuclease activity; K63-linked polyubiquitin binding; INVOLVED IN cellular response to DNA damage stimulus; DNA catabolic process, endonucleolytic; DNA repair; ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); FOUND IN nuclear replication fork; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 2 2 2 q21.3 129670506 129999572 - 135954539 136288806 - 135196969 135531236 - 6480464;8554872 11076863;11230166;12477932;14702039;15489334;15489336;16381901;20379614;21078962;21145461;21963094;22118674;22704558;22705370;22759634;24163370;24958773 84083 F5GYN7;F8WCT9;Q5FWF4 ABBA01028167;ABBA01028168;ABBA01028169;ABBA01028170;ABBA01028171;ABBA01028172;ABBA01028173;ABBA01028174;ABBA01028175;ABBA01028176;ABBA01028177;ABBA01028178;ABBA01028179;ABBA01028180;ABBA01028181;AC012450;AC016742;AC017031;AC020602;AC064850;AI670931;AK095362;AK131303;AK304601;AL136824;AL833322;AMYH02004846;AMYH02004847;AMYH02004848;AMYH02004849;AMYH02004850;AMYH02004851;AMYH02004852;BC089429;BX647838;CH471058;NM_001286568;NM_001286569;NM_032143;XM_005263809;XM_005263811;XM_005263812;XM_006712788 AAH89429;AAX93066;AAY14765;BAC04536;BAG54763;BAG65387;CAB66758;CAL37572;CAL37580;EAX11629;EAX11630;EAX11631;EAX11632;EAX11633;EAX11634;EAX11635;EAX11636;NP_001273497;NP_001273498;NP_115519;Q5FWF4;XP_005263866;XP_005263868;XP_005263869;XP_006712851 Hs.658422 1673593;1683651;1708528;1772342;2142547;2143346;2145350;2163264;5037552 A006P05;D8S2279;RH36331;RH48895;RH69631;RH93721;SHGC-53053;SHGC-85039;WI-20662 4933425L19Rik;AH2;MGC105033;MGC75012 DNA annealing helicase and endonuclease ZRANB3;OTTHUMP00000197448;OTTHUMP00000197449;annealing helicase 2;zinc finger Ran-binding domain-containing protein 3 protein-coding ENSG00000121988 HGNC:25249 15896 VALIDATED 1346257 ZSCAN12 zinc finger and SCAN domain containing 12 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-aza-2'-deoxycytidine; ethyl methanesulfonate; methyl methanesulfonate 6 6 6 p21 29953038 29973981 - 28346598 28367544 - 28378821 28399767 - 6480464 12477932;14574404;15489334;17000644;8889548;9244436;9455477 9753 O43309 AB007886;ABBA01038018;AK289802;AL358785;AL602228;AMYH02013394;BC041661;CF138460;CH471081;CX868415;DB522087;NM_001163391;NR_028077;XM_006715282;XM_006715283;XM_006715284;XR_427859;Z98745 AAH41661;ABZ92462;BAA24856;BAF82491;EAX03161;EAX03162;NP_001156863;O43309;XP_006715345;XP_006715346;XP_006715347 Hs.134816 2126741;2174221;5022578 D1S1423;D6S2278;D6S2302 KIAA0426;ZFP96;ZNF29K1;ZNF305;ZNF96;dJ29K1.2 OTTHUMP00000016205;zinc finger and SCAN domain-containing protein 12;zinc finger protein 305;zinc finger protein 96;zinc finger protein 96 (f15034) protein-coding HGNC:13172 15767 603978 VALIDATED 1321829 ZSCAN10 zinc finger and SCAN domain containing 10 ENCODES a protein that exhibits sequence-specific DNA binding (ortholog); sequence-specific DNA binding transcription factor activity (ortholog); INVOLVED IN negative regulation of transcription, DNA-templated (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH 17beta-estradiol; bucladesine; medroxyprogesterone acetate 16 16 16 p13.3 3344365 3348331 - 3138895 3149293 - 3088890 3099317 - 1580863;6480464 12477932;14702039;15146197;16344560;22011711;22911660;8889549;9653642 84891 I3L0Q3;I3L1J3;I3NI43;Q96SZ4 ABBA01026726;AC108134;AK027455;AK074736;AMYH02031280;BC111367;BC114452;CH471112;CN366927;CQ782664;CX781288;DA729263;NM_001282415;NM_001282416;NM_032805 AAI14453;AAI67837;BAB55124;BAG51995;CAF85907;EAW85403;NP_001269344;NP_001269345;NP_116194;Q96SZ4 Hs.334515 1685001 RH91869 FLJ14549;ZNF206 zinc finger and SCAN domain-containing protein 10;zinc finger protein 206 protein-coding ENSG00000130182 HGNC:12997 15747 VALIDATED 1345307 ZSCAN12P1 zinc finger and SCAN domain containing 12 pseudogene 1 6 6 6 p22.1 29664990 29669554 + 28058585 28063493 + 28090807 28095715 + 12477932;14702039 221584 ABBA01038015;AK055113;AK127188;AL121944;AMYH02013391;BC040524;BU632557;NR_024063 Hs.634723;Hs.659413 1645340 RH66807 ZNF187p1;ZNF305P1;ZNF96L1;ZNF96P1;ZSCAN12L1;dJ313I6.7 zinc finger protein 305 pseudogene 1 APPROVED pseudo HGNC:13850 VALIDATED 7248007 ZSCAN16-AS1 ZSCAN16 antisense RNA 1 6 6 6 p22.1 29664397 29711132 - 28089573 28105094 - 28121795 28137316 - 12477932 100129195 ABBA01038015;AK127889;AK309286;AL121944;AL358933;AMYH02013391;BC043177;HG499073;HG499074;HY052668;NR_103455;NR_103456 BAC87176 Hs.659413 RP1-265C24.9 ncrna ENSG00000269293 HGNC:48982 VALIDATED 1345084 ZSCAN16 zinc finger and SCAN domain containing 16 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH acetylsalicylic acid; atrazine; copper(2+) sulfate 6 6 6 p22.1 29698448 29703918 + 28092334 28097864 + 28124556 28130079 + 1580863;6480464 12477932;14574404;14702039;15489334;16169070;16189514;17646705;18029348;18976975;21832049 80345 Q9H4T2 ABBA01038015;AK025844;AK294017;AK309837;AL358933;AMYH02013391;BC004255;CH471081;CS300526;NM_025231;XM_005249426 AAH04255;ABZ92203;BAB15257;BAG57378;CAK32190;EAX03134;NP_079507;Q9H4T2;XP_005249483 Hs.656641 1778085;2145672;2147537;2189659 D6S2214;RH41988;RH46748;WI-13567 FLJ22191;ZNF392;ZNF435;dJ265C24.3 OTTHUMP00000016197;zinc finger and SCAN domain-containing protein 16;zinc finger protein 392;zinc finger protein 435 protein-coding ENSG00000196812 HGNC:20813 15792 PROVISIONAL 1343704 ZSCAN18 zinc finger and SCAN domain containing 18 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH 5-fluorouracil; arsenite(3-); mitoxantrone 19 19 19 q13.43 55638556 55673723 - 58595204 58629793 - 58083837 58118426 - 6480464;8554872 12477932;14702039;15489334;16344560;20211142;21832049;21890473;21988832;22939629;24250222 65982 M0QXJ0;M0QZ65;M0R111;M0R1U9;M0R364;M0R3C6;Q8TBC5 ABBA01020783;ABBA01020784;AC008751;AK022957;AK096238;AK126140;AK160376;AK225548;AK294376;AK296417;AL049448;AMYH02036527;AMYH02036528;AMYH02036529;AY279352;AY280799;BC006205;BC017411;BC022846;BG036776;CH471135;DA611622;DC328006;DC330828;DC354023;NM_001145542;NM_001145543;NM_001145544;NM_023926;NR_027135;XM_005259174;XM_006723335;XM_006723336 AAH06205;AAH17411;AAH22846;AAQ16303;AAQ62849;ABZ92052;BAB14332;BAD18719;BAG57634;BAG59079;CAH10738;EAW72557;EAW72558;EAW72559;NP_001139014;NP_001139015;NP_001139016;NP_076415;Q8TBC5;XP_005259231;XP_006723398;XP_006723399 Hs.235390 2117558;2177056 RH35992;WI-21591 DKFZp586B1122;FLJ12895;FLJ38919;FLJ44152;MGC2427;MGC4074;MGC8682;ZNF447 zinc finger and SCAN domain-containing protein 18;zinc finger protein 447 protein-coding ENSG00000121413 HGNC:21037 07802 VALIDATED 1606268 ZSCAN2 zinc finger and SCAN domain containing 2 The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 15 15 15 q25.2 61569776 61592474 + 85144249 85166947 + 84601018 84623718 + 6480464;8554872 12477932;14702039;15489334;17207965;18029348;1937051;20531441;22505724;23752268;8889548 54993 F5GY18;F5GZ04;F5H1K4;F5H2D8;F5H3F3;F5H4P1;F5H789;F8W6Y9;Q7Z7L9 ABBA01052943;ABBA01052944;AC048382;AC244519;AK000602;AK128624;AK131309;AK291224;AW452266;AY262259;AY279349;BC041620;BC136342;BU733585;CH471101;CK003500;NM_001007072;NM_017894;NM_181877;XM_005254935;XM_006720596 AAH41620;AAI36343;AAP36989;AAQ62846;ADQ32044;BAA91283;BAC87537;BAD18475;BAF83913;EAX01934;EAX01935;EAX01936;NP_001007073;NP_060364;NP_870992;Q7Z7L9;XP_005254992;XP_006720659 Hs.594023 1649829;1736478;2141967;5014051;5022578;5022651;5037552 A008C21;D11S2921;D15S689E;D1S1423;D8S2278;D8S2279;WI-16975 FLJ20595;ZFP29;ZNF854;zfp-29 OTTHUMP00000082614;OTTHUMP00000082615;OTTHUMP00000082616;OTTHUMP00000237252;OTTHUMP00000237253;OTTHUMP00000237255;zinc finger and SCAN domain-containing protein 2;zinc finger protein 29 homolog;zinc finger protein 854 APPROVED protein-coding ENSG00000176371 HGNC:20994 15898 REVIEWED 1353276 ZSCAN20 zinc finger and SCAN domain containing 20 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); metal ion binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (-)-demecolcine; 17beta-estradiol; amiodarone 1 1 1 p34.3 32210051 32233817 + 33938232 33962105 + 33472626 33496505 + 1580863;6480464;8554872 12477932;15489334;16189514;16429158;18029348;20379614;22505724;2288909;23824909 7579 P17040 ABBA01023376;AC115285;AI651390;AI699720;AK131405;AK290195;AL138837;AMYH02000735;BC008827;BC011404;CH471059;DC336055;KF510728;NM_145238;X52360;XM_005271171;XM_006710874;XM_006710875;XM_006710876 AAH08827;AAH11404;BAD18552;BAF82884;CAA36586;EAX07454;EAX07455;EAX07456;NP_660281;P17040;XP_005271228;XP_006710937;XP_006710938;XP_006710939 Hs.442705 1680523 RH36794 KOX29;ZFP-31;ZNF31;ZNF360 OTTHUMP00000004352;OTTHUMP00000179080;zinc finger and SCAN domain-containing protein 20;zinc finger protein 31;zinc finger protein 31 (kox 29);zinc finger protein 360;zinc finger protein KOX29 protein-coding ENSG00000121903 HGNC:13093 15769 611315 VALIDATED 1320617 ZSCAN21 zinc finger and SCAN domain containing 21 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated; FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; ethyl methanesulfonate; formaldehyde 7 7 7 q22.1 94381989 94397233 + 99647390 99662663 + 100049767 100065040 + 1580863;6480464 10508479;11230166;12477932;12690205;15489334;16540086;19549071;2014798;21890473;22505724;22990118;23000965;7486829 7589 C9JHD9;G3V1M0;Q9Y5A6 ABBA01013239;AC093619;AF155100;AK075324;AK292267;AK301871;AK313884;AL136865;AMYH02016371;BC033129;BC047309;BI764964;BM991519;CH236956;CH471091;CR749301;NM_145914;XM_005250566;XM_005250567;XM_005250568;XM_006716113;XM_006716114 AAD42866;AAH33129;AAH47309;ABZ92032;BAF84956;BAG52109;BAG63308;CAB66799;CAH18156;EAL23860;EAW76609;EAW76610;EAW76611;NP_666019;Q9Y5A6;XP_005250623;XP_005250624;XP_005250625;XP_006716176;XP_006716177 Hs.632294 1687520;2116511;2167194;2174265 GDB:4585163;RH80109;SGC30599;STS-W89121 DKFZp434L134;DKFZp686H10254;NY-REN-21;ZNF38;Zipro1;zfp-38 OTTHUMP00000206179;OTTHUMP00000206945;renal carcinoma antigen NY-REN-21;zinc finger and SCAN domain-containing protein 21;zinc finger protein 38;zinc finger protein 38 (KOX 25);zinc finger protein 38 homolog;zinc finger protein NY-REN-21 antigen protein-coding ENSG00000166529 HGNC:13104 03162 601261 VALIDATED 1352592 ZP3 zona pellucida glycoprotein 3 (sperm receptor) The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 70895359 70931910 + 76026841 76071388 + 76397524 76442071 + 1580863;6480464 10099990;10864856;11739644;11751269;11804956;11854410;11940668;12035074;12477932;14673092;14702039;1478648;15379548;15950651;16344560;16407501;17192598;18033806;18502569;18667750;19004505;19246320;19700799;19945174;20237496;21906983;22889493;2385582;24163370;24250222;7789967;8269854;8467708;8984187;9609824 7784 E9PFI9;H0Y3M4;P21754 A18567;ABBA01005915;ABBA01005916;ABBA01005917;ABBA01005918;ABBA01005919;AC005522;AK056788;AK292763;AMYH02016085;AMYH02016086;AMYH02016087;AMYH02016088;BC113949;BI828655;CA421411;CH471220;DB328313;M60504;NG_033938;NM_001110354;NM_007155;S52509 AAA13165;AAA61336;AAI13950;AAI40333;AAI46483;BAF85452;CAA01398;EAW71807;EAW71808;NP_001103824;NP_009086;P21754 Hs.656137 1340350;2156163;2157980;2167953;5014740;5022578;5091112;7186921 D17S610;D1S1423;D7S2470;D7S2875;STS-M60504;STS-U10099;ZP3A ZP3A;ZP3B;ZPC;Zp-3 OTTHUMP00000161137;OTTHUMP00000161138;OTTHUMP00000208547;ZP3A/ZP3B;sperm receptor;zona pellucida glycoprotein 3A (sperm receptor);zona pellucida glycoprotein 3B;zona pellucida glycoprotein ZP3;zona pellucida protein C;zona pellucida sperm-binding protein 3 APPROVED protein-coding ENSG00000188372 HGNC:13189 01690 182889 REVIEWED 1353335 ZSCAN23 zinc finger and SCAN domain containing 23 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular vesicular exosome; INTERACTS WITH methyl methanesulfonate; paracetamol; trichostatin A 6 6 6 p22.1 30006860 30017706 - 28399373 28411279 - 28431596 28443502 - 6480464;8554872 12477932;14574404;14702039;15489334 222696 G3V1D5;Q3MJ62 ABBA01038018;ABBA01038019;AK092117;AK309235;AL833347;AMYH02013394;BC101557;BC101559;BX283350;CH471081;NM_001012455;XM_005248950;Z98745 AAI01558;AAI01560;ABZ92213;EAX03164;NP_001012458;Q3MJ62;XP_005249007 Hs.721841 FLJ99276;MGC126606;MGC126608;ZNF390;ZNF453;dJ29K1.3;dJ29K1.3.1 OTTHUMP00000017971;zinc finger and SCAN domain-containing protein 23;zinc finger protein 390;zinc finger protein 453 protein-coding ENSG00000187987 HGNC:21193 VALIDATED 1351452 ZPBP zona pellucida binding protein ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008] 7 7 7 p14.3 50071197 50226950 - 49977023 50132860 - 49937427 50093264 - 1580863;6480464;8554872 10924747;12477932;12853948;12883658;15489334;17664285;21102463;21116278;21911476;21988832;23128233;9378618 11055 C9JIS7;F8WDW2;Q9BS86 ABBA01008171;ABBA01008172;ABBA01008173;AC034148;AC096568;AI207093;AK312799;AMYH02015685;AMYH02015686;AMYH02015687;BC005223;BT006822;CH236955;CH471128;D17570;NM_001159878;NM_007009 AAH05223;AAP35468;AAS07517;AAS07558;ABM84723;ABM92246;BAA04495;EAL23903;EAW60984;NP_001153350;NP_008940;Q9BS86 Hs.388841 1786218;2141242;2170424 D7S1413;GDB:1317932;SHGC-107173 FLJ93221;ZPBP1 OTTHUMP00000159580;OTTHUMP00000208840;zona pellucida binding protein 1;zona pellucida-binding protein 1 APPROVED protein-coding ENSG00000042813 HGNC:15662 18364 608498 VALIDATED 1315325 ZSCAN22 zinc finger and SCAN domain containing 22 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzene; 2,3,7,8-tetrachlorodibenzodioxine (ortholog); 4,4'-diaminodiphenylmethane (ortholog) 19 19 19 q13.43 55882370 55897698 + 58838385 58853712 + 58327019 58342346 + 1580863;6480464 12477932;1505991;1946370;22505724;2850480;7698749;8812445;8889548 342945 P10073 ABBA01020773;AC010642;AC012313;AK128716;AMYH02036532;BC101630;BC112277;BC143446;BM669173;BX537741;BX647879;CH471135;M20676;M88360;NM_181846;XM_005258865;XM_005258866;XM_006723190;XM_006723191;XM_006723192 AAA61318;AAI01631;AAI12278;ADR83191;BAC87588;CAD97822;EAW72574;NP_862829;P10073;XP_005258922;XP_005258923;XP_006723253;XP_006723254;XP_006723255 Hs.388162 1680633;1850748;5022200;5022578;5037552 D19S829;D1S1423;D8S2279;L18426;RH80657 HKR2;MGC126679;MGC138482;ZNF50 GLI-Kruppel family member HKR2;krueppel-related zinc finger protein 2;zinc finger and SCAN domain-containing protein 22;zinc finger protein 50 protein-coding ENSG00000182318 HGNC:4929 01315 165260 VALIDATED 1318498 ZSCAN25 zinc finger and SCAN domain containing 25 This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 93948800 93964259 + 99214571 99275204 + 99616948 99677578 + 6480464 11179890;12477932;12690205;14702039;16314882 221785 B3KPY4;C9K079;Q6NSZ9 ABBA01013252;AC005020;AK057030;AK160369;AMYH02016365;AW195325;BC069644;BC074902;BC074903;BC089402;BC114573;BC114941;BX640720;BX648158;CH236956;CH471091;KF459642;NM_145115;XM_005250194;XM_005250195;XM_005250197;XM_005250198;XM_006715891 AAH69644;AAH74902;AAH74903;AAH89402;AAI14574;AAI14942;BAD18712;BAG51846;CAE45839;EAL23869;EAW76643;EAW76644;EAW76645;EAW76646;EAW76647;NP_660090;Q6NSZ9;XP_005250251;XP_005250252;XP_005250254;XP_005250255;XP_006715954 Hs.446297 2110821;2138926;5022651;5024039;5037552 D11S2921;D16S325;D8S2279;RH46231;ZNF498__4860 ZNF498 OTTHUMP00000082680;zinc finger and SCAN domain-containing protein 25;zinc finger protein 498 APPROVED protein-coding ENSG00000197037 HGNC:21961 15807 VALIDATED 1345585 ZSCAN26 zinc finger and SCAN domain containing 26 ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN transcription, DNA-templated (inferred); INTERACTS WITH atrazine; cadmium atom; copper(2+) sulfate 6 6 6 p21.31 29841233 29852427 + 28234788 28246001 + 28267010 28278224 + 1580863;6480464 12477932;14702039;1569959;16344560;19416867;21988832 7741 B3KTR1;B4DMT1;B4DVH3;Q16670 ABBA01038015;AJ420533;AK095948;AK293524;AK295393;AK297613;AK301081;AK315645;AL021997;AL526328;AL832741;AMYH02013393;BC013951;BC013962;BX537535;CH471081;DA167287;DA341149;DA528922;DA566660;DA884554;DB262147;DC353668;GD143716;KF459630;NM_001023560;NM_001111039;NM_001287421;NM_001287422;NM_152736;Z11773 AAH13951;AAH13962;ABZ92450;BAG38012;BAG53173;BAG57006;BAG58347;BAG59993;BAG62685;CAA77818;CAD97775;CAI46119;EAX03147;EAX03148;EAX03149;EAX03150;NP_001018854;NP_001104509;NP_001274350;NP_001274351;NP_689949;Q16670 Hs.157883 1647555;1668994;1754113;2121608;2160195 D6S1940;D6S2118;D6S2280;RH46597;SHGC-132144 MGC2815;SRE-ZBP;ZNF187 zinc finger and SCAN domain-containing protein 26;zinc finger protein 187 APPROVED protein-coding ENSG00000197062 HGNC:12978 15746 VALIDATED 1605867 ZSCAN29 zinc finger and SCAN domain containing 29 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; copper(2+) sulfate; phenobarbital 15 15 15 q15.3 20421021 20432909 - 43650370 43663226 - 43358172 43370560 - 6480464;8554872 12434312;12477932;14702039;15489334;16344560;22505724 146050 C9K0J8;H3BMU4;H3BUW4;H3BVH1;Q05BJ4;Q8IWY8;Q96AG1 ABBA01038348;ABBA01038349;AC018924;AF525399;AK023525;AK093186;AK093377;AK098289;AK122788;AK123753;AMYH02030303;AMYH02030304;BC017179;BC040682;BC043612;BC062551;BC109270;BC109271;CH471125;DB183454;DB365228;NM_152455;XM_006720401 AAH17179;AAH43612;AAI09271;AAI09272;AAO14995;BAC04088;BAC04147;BAG53731;EAW92600;EAW92601;EAW92602;NP_689668;Q8IWY8;XP_006720464 Hs.418287 1678795;1789062;2144380;5014023;5016478 D13S1553;G65667;GDB:434012;RH93832;SGC31111 FLJ35867;MGC129894;MGC129895;ZNF690;Zfp690 KOX31-like zinc finger protein;OTTHUMP00000161325;zinc finger and SCAN domain-containing protein 29;zinc finger protein 690 protein-coding ENSG00000140265 HGNC:26673 08766 VALIDATED 2290512 ZSCAN30 zinc finger and SCAN domain containing 30 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH bisphenol A; copper(2+) sulfate; lead(0) 18 18 18 q12.2 29638924 29678100 - 32831023 32870196 - 35251058 35290248 - 6480464 12107413;12801647;14702039;16344560;18029348;24250222 100101467 C9JCM2;K7EPB0;K7ERA9;M0QZC3;M0QZP2;M0R1Y0;Q86W11 AA988135;ABBA01022450;ABBA01022451;AC011815;AF303374;AK001503;AK057386;AK128697;AK131291;AK303447;AL832180;AMYH02034551;AY234408;BX116643;CD676185;CH471088;DA653861;DC409152;DC414102;NM_001112734;NM_001166012;NM_001288711;XM_005258183;XM_006722371;XM_006722372 AAL26786;AAO89074;BAD18462;BAG64492;EAX01344;NP_001106205;NP_001159484;NP_001275640;Q86W11;XP_005258240;XP_006722434;XP_006722435 Hs.619840 1675812;1684694;1687107;1754613;2174470;5016862;5020423 D11S1053;RH16480;RH39232;RH78807;RH94316;SHGC-132945;SHGC-34458 FLJ16245;FLJ46864;ZNF-WYM;ZNF397OS;ZNF917 ZNF397 opposite strand;zinc finger and SCAN domain-containing protein 30;zinc finger protein 397 opposite strand;zinc finger protein 397OS APPROVED protein-coding ENSG00000186814 HGNC:33517 VALIDATED 1605639 ZSCAN31 zinc finger and SCAN domain containing 31 ZNF323 is a member of the subfamily of C2H2 Kruppel-like zinc finger transcription factors that have a SCAN box domain (Pi et al., 2002 [PubMed 12147252]).[supplied by OMIM, Mar 2008] 6 6 6 p21.31 29898957 29930489 - 28292514 28321972 - 28324737 28337366 - 6480464;8554872 12147252;12477932;14574404;14702039;16344560;18029348;20211142;8125298 64288 C9IYT1;C9J1X2;C9J423;C9J6S7;C9JAI0;C9JBH3;C9JH14;C9JHB1;C9JIC2;C9JPM5;C9JUE1;Q96LW9;Q96QL1 ABBA01038017;AF513019;AK027060;AK057702;AK095261;AK123280;AK225382;AL021997;AL833416;AL833617;AMYH02013394;BC008490;BC065241;CH471081;DA875036;DA879276;DN995648;NM_001135216;NM_001243241;NM_001243242;NM_001243243;NM_001243244;NM_030899;XM_005249295;XM_005249296;XR_241913 AAH08490;AAH65241;AAM47006;ABZ92202;BAB15643;BAB71548;BAG53016;CAD38641;EAX03152;EAX03153;EAX03154;EAX03155;EAX03156;NP_001128688;NP_001230170;NP_001230171;NP_001230172;NP_001230173;NP_112161;Q96LW9;XP_005249352;XP_005249353 Hs.656413 1682890;1697232;2110811;2135295;2171183;2189651 D6S2226;D6S2279;D6S2303;RH102110;RH93781;ZNF323__4820 FLJ23407;FLJ41286;ZNF20-Lp;ZNF310P;ZNF323;dJ874C20.2 OTTHUMP00000016202;OTTHUMP00000211131;OTTHUMP00000211132;OTTHUMP00000211133;OTTHUMP00000211141;zinc finger and SCAN domain-containing protein 31;zinc finger protein 310 pseudogene;zinc finger protein 323 APPROVED protein-coding ENSG00000235109 HGNC:14097 15772 610794 VALIDATED 1351601 ZSCAN4 zinc finger and SCAN domain containing 4 The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]).[supplied by OMIM, May 2010] 19 19 19 q13.43 55223846 55234060 + 58180303 58190520 + 57668935 57679152 + 6480464;8554872 12477932;14702039;15231748;15489334;20211142;20336070 201516 Q8NAM6 ABBA01020805;AC004017;AK092424;AMYH02036519;BC101738;BC101740;BX118882;CH471135;NM_152677;XM_006723078 AAI01739;AAI01741;ABZ92211;BAC03886;EAW72523;NP_689890;Q8NAM6;XP_006723141 Hs.469663 2110819 ZNF494__4858 FLJ35105;MGC126787;MGC126789;ZNF494 zinc finger and SCAN domain-containing protein 4;zinc finger protein 494 APPROVED protein-coding ENSG00000180532 HGNC:23709 15899 613419 VALIDATED 1347881 ZSCAN5A zinc finger and SCAN domain containing 5A ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH copper(2+) sulfate; formaldehyde; hydrogen peroxide 19 19 19 q13.43 53776367 53783348 - 56732672 56826208 - 56221303 56230399 - 6480464;8554872 12477932;15489334;21832049 79149 K7EIX9;K7EMC4;K7EN85;K7EQW6;K7ESE4;K7ESN6;Q9BUG6 ABBA01020837;AC011506;AK098700;AK223485;AK301873;AMYH02036490;BC002636;BC043232;CH471135;NM_024303;XM_005259254;XM_006723376;XM_006723377 AAH02636;AAH43232;ABM84055;ABM87407;BAC05386;BAD97205;BAG63310;EAW72433;EAW72434;NP_077279;Q9BUG6;XP_005259311;XP_006723439;XP_006723440 Hs.177688 2186876 WI-11903 MGC4161;ZNF495;ZSCAN5 zinc finger and SCAN domain containing 5;zinc finger and SCAN domain-containing protein 5A;zinc finger protein 495 protein-coding ENSG00000131848 HGNC:23710 15900 PROVISIONAL 1343279 ZSCAN32 zinc finger and SCAN domain containing 32 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH thioacetamide (ortholog) 16 16 16 p13.3 3638848 3657809 - 3431661 3451065 - 3381661 3401065 - 1580863;6480464 12477932;14702039;16189514;19060904;20211142;21906983;24250222 54925 B4DR24;I3L1K0;I3L1S7;I3L2L7;I3L2V3;I3L3J2;I3L3Y8;I3L4W6;Q9NX65 ABBA01026740;AC025283;AI039149;AK000424;AK056463;AK291213;AK299070;AK301586;AK303338;AMYH02031289;AMYH02031290;AY261676;AY279347;AY279348;BC002859;BC017015;CH471112;NM_001284527;NM_001284528;NM_001284529;NM_017810;XM_005255402;XM_005255403;XM_005255404;XM_005255406;XM_006720901 AAH02859;AAP57398;AAQ62844;AAQ62845;BAA91155;BAF83902;BAG61136;BAG63077;BAG64401;EAW85369;EAW85370;EAW85371;EAW85372;NP_001271456;NP_001271457;NP_001271458;NP_060280;Q9NX65;XP_005255459;XP_005255460;XP_005255461;XP_005255463;XP_006720964 Hs.592078 2116978;2134686 SHGC-60797;SHGC-61089 FLJ20417;FLJ31901;HCCS-5;MGC4179;ZNF434 OTTHUMP00000159718;human cervical cancer suppressor gene 5 protein;zinc finger and SCAN domain-containing protein 32;zinc finger protein 434 APPROVED protein-coding ENSG00000140987 HGNC:20812 15791 VALIDATED 2293903 ZSCAN5C zinc finger and SCAN domain containing 5C ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); INTERACTS WITH (+)-catechin 19 19 19 q13.43 53760860 53764530 + 56717154 56720823 + 56205785 56209454 + 15057824 649137 A6NGD5 ABBA01020837;AC011506;AMYH02036490;NG_012782 A6NGD5 ZNF495C pseudo HGNC:34294 INFERRED 2293895 ZSCAN5B zinc finger and SCAN domain containing 5B ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred) 19 19 19 q13.43 53744765 53748128 - 56701058 56709207 - 56189689 56197838 - 8554872 11181995;15057824 342933 A6NJL1;K7EJD1;K7ESD3 ABBA01020837;AC024580;AI041519;AMYH02036490;BX094413;CH471135;DW009806;EG328459;NM_001080456;XM_005258864;XM_006723189 A6NJL1;EAW72432;NP_001073925;XP_005258921;XP_006723252 Hs.132130 ZNF371;ZNF495B zinc finger and SCAN domain-containing protein 5B protein-coding ENSG00000197213 HGNC:34246 VALIDATED 1313910 ZSWIM1 zinc finger, SWIM-type containing 1 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH paracetamol; 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog) 20 20 20 q13.12 41221311 41225363 + 44509581 44513905 + 45880942 45885266 + 1580863;6480464;8554872 11780052;12477932;15489334;19322201;21906983 90204 Q9BR11 ABBA01052669;ABBA01052670;AK291304;AL008726;AMYH02037154;BC001672;BC080525;CH471077;NM_080603;XM_005260610;XM_005260611 AAH01672;AAH80525;BAF83993;EAW75792;EAW75793;NP_542170;Q9BR11;XP_005260667;XP_005260668 Hs.517075 1742363;2156274;5014051;5015619;5022578;5037552;5117897 D11S3114;D1S1423;D8S2278;D8S2279;GDB:196483;GDB:631813;RH46893 C20orf162 OTTHUMP00000082588;zinc finger SWIM domain-containing protein 1;zinc finger, SWIM domain containing 1 protein-coding ENSG00000168612 HGNC:16155 15901 VALIDATED 1322798 ZSWIM2 zinc finger, SWIM-type containing 2 ENCODES a protein that exhibits ligase activity (inferred); protein self-association (inferred); ubiquitin-protein transferase activity (inferred); INVOLVED IN apoptotic process (inferred); positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (inferred); protein polyubiquitination (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH arsane; arsenic atom; rosiglitazone (ortholog) 2 2 2 q32.1 181287838 181310094 - 187692207 187713897 - 186827480 186849170 - 737633;1580863;6480464;8554872 12477932 15489334;16189514;16522193;19690564;19850743;19851296;20198315;20379614 151112 F8WCC6;Q8NEG5 ABBA01062341;AC018735;AC103914;AK128006;AMYH02005409;BC031094;CH471058;HC007394;NM_182521 AAH31094;AAX82016;AAY14907;ADZ15964;BAG54618;CBH19502;EAX10929;NP_872327;Q8NEG5 Hs.375054 MEX;MGC33890;ZZZ2 E3 ubiquitin-protein ligase ZSWIM2;MEKK1-related protein X;OTTHUMP00000205380;ZZ-type zinc finger-containing protein 2;zinc finger SWIM domain-containing protein 2;zinc finger, SWIM domain containing 2 protein-coding ENSG00000163012 HGNC:30990 15902 VALIDATED 5688630 ZSWIM5P1 zinc finger, SWIM-type containing 5 pseudogene 1 17 17 p12 15672034 15674739 - 15768720 15771425 - 100130110 ABBA01035676;AC015922;AMYH02033058;NG_022443 pseudo HGNC:43768 INFERRED 1345804 ZSWIM4 zinc finger, SWIM-type containing 4 ENCODES a protein that exhibits zinc ion binding (inferred); INTERACTS WITH 2-methylcholine; atrazine; 17beta-estradiol (ortholog) 19 19 19 p13.13 13800055 13836792 + 13906258 13943068 + 13795444 13832254 + 1580863;6480464 11214971;14702039;18976975;20467438 65249 K7EJI0;K7ERJ6;Q9H7M6;Q9HA55 ABBA01029713;ABBA01029714;ABBA01029715;ABBA01029716;ABBA01029717;ABBA01029718;ABBA01029719;ABBA01029720;AC020916;AK022283;AK024452;AK299057;AMYH02035587;AMYH02035588;AMYH02035589;BG764264;CH471106;NM_023072;XM_005260023 BAB14001;BAB15742;BAG61126;EAW84373;NP_075560;Q9H7M6;XP_005260080 Hs.466015 2218698 ZSWIM4__4729 zinc finger SWIM domain-containing protein 4;zinc finger, SWIM domain containing 4 protein-coding ENSG00000132003 HGNC:25704 15904 VALIDATED 1347085 ZSCAN9 zinc finger and SCAN domain containing 9 ENCODES a protein that exhibits DNA binding (inferred); metal ion binding (inferred); nucleic acid binding (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-catechin; (-)-epigallocatechin 3-gallate; 2-methylcholine 6 6 6 p21.3 29799524 29807714 + 28193029 28201265 + 28225251 28233487 + 1580863;6480464 10567577;12477932;14574404;15489334;16189514;20211142;23455924;8125298;9244436 7746 E9PLJ4;E9PQL7;O15535;U3KQB2;U3KQV4 ABBA01038015;AK226035;AK304013;AL022393;AMYH02013393;AU310237;AY261373;AY550973;BC010374;CH471081;NM_001199479;NM_001199480;NM_006299;U62392;U88081;U88082;XM_006715182;XM_006715183;XM_006715184 AAC51659;AAC51661;AAH10374;AAP94876;AAT52219;ABZ92451;ACE87046;ACE87728;BAG64928;EAX03140;EAX03141;NP_001186408;NP_001186409;NP_006290;O15535;XP_006715245;XP_006715246;XP_006715247 Hs.100921;Hs.731936 1665582;1735626;2110075 D6S1238E;WI-13617;ZNF193_8753 PRD51;ZNF193 OTTHUMP00000016200;OTTHUMP00000229111;OTTHUMP00000229113;OTTHUMP00000229115;cell proliferation-inducing gene 12 protein;cell proliferation-inducing protein 12;zinc finger and SCAN domain-containing protein 9;zinc finger protein 193 APPROVED protein-coding ENSG00000137185 HGNC:12984 03766 602246 VALIDATED 1321821 ZSWIM5 zinc finger, SWIM-type containing 5 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); FOUND IN extracellular space; INTERACTS WITH 17beta-estradiol; melphalan; quercetin 1 1 1 p34.1 43764858 43955527 - 45482071 45672250 - 45016402 45206578 - 1580863;6480464;8554872 10819331;12477932;15146197;16710414;20379614;8889548 57643 Q9P217 AB040944;ABBA01050892;ABBA01050893;ABBA01050894;AL359473;AL592294;AMYH02000921;AMYH02000922;AMYH02000923;AMYH02000924;BC013836;BM711793;CN429257;NM_020883 BAA96035;NP_065934;Q9P217 Hs.656613 1336104;1658039;1679513;1679515;1692520;1692946;2218700 AL033912;AL034188;D1S2802;RH99099;SHGC-24391;SHGC-74713;ZSWIM5__4730 KIAA1511 OTTHUMP00000010505;zinc finger SWIM domain-containing protein 5;zinc finger, SWIM domain containing 5 protein-coding ENSG00000162415 HGNC:29299 VALIDATED 1320317 ZSWIM3 zinc finger, SWIM-type containing 3 ENCODES a protein that exhibits zinc ion binding (inferred); ASSOCIATED WITH Melanoma (inferred); INTERACTS WITH cadmium atom; copper(2+) sulfate; menadione 20 20 20 q13.12 41196757 41197127 + 44486220 44507770 + 45857581 45879131 + 1580863;6480464;8554872 11181995;11780052;12477932;14702039;15489334;16344560;19389623 140831 Q96MP5 ABBA01052668;ABBA01052669;AK056641;AK302767;AK316214;AL008726;AMYH02037154;BC027611;BX385024;CH879653;DA520427;DC363945;NM_080752;NR_037628;XM_006723709 AAH27611;BAB71239;BAG63976;BAH14585;EAW50407;NP_542790;Q96MP5;XP_006723772 Hs.292135 1847918;2136087;2153696;2178518;2218896 G01537;RH16424;SHGC-34003;WI-10396;ZSWIM3__4728 C20orf164;PPP1R174 OTTHUMP00000031187;zinc finger SWIM domain-containing protein 3;zinc finger, SWIM domain containing 3 protein-coding ENSG00000132801 HGNC:16157 15903 VALIDATED 5688631 ZSWIM5P2 zinc finger, SWIM-type containing 5 pseudogene 2 17 17 p11.2 20487071 20489771 - 20583758 20586458 - 100132201 AC087499;AMYH02033186;NG_022447 1687932;1689259 RH47617;RH80845 pseudo HGNC:43769 INFERRED 5688623 ZSWIM5P3 zinc finger, SWIM-type containing 5 pseudogene 3 4 4 4 q28.2 127439105 127442913 - 130057087 130060895 - 129135932 129139740 - 391697 ABBA01044830;AC093826;AMYH02010096;NG_022037 pseudo HGNC:43770 INFERRED 1352510 ZSWIM6 zinc finger, SWIM-type containing 6 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN neuron projection morphogenesis (inferred); regulation of neuron migration (inferred); ASSOCIATED WITH Agenesis of corpus callosum (inferred); Autosomal dominant inheritance (inferred); Bifid nose (inferred); INTERACTS WITH benzo[a]pyrene diol epoxide I; calcitriol; copper atom 5 5 5 q12.1 57764647 57838148 + 60628100 60841999 + 61332273 61546172 + 1580863;6480464;8699517;8554872 10737800;10997877;11181995;12477932;16427614;22688191;23974872;24163370 57688 Q9HCJ5 AA740254;AB046797;ABBA01048371;ABBA01048372;ABBA01048373;ABBA01048374;ABBA01048375;ABBA01048376;AC008836;AC016636;AC122718;AMYH02011378;AMYH02011379;AMYH02011380;AW136453;BC039438;BF750632;BF751445;BX648543;CH471137;NM_020928;XM_006714664 BAB13403;EAW51397;NP_065979;Q9HCJ5;XP_006714727 Hs.744939 1687784;1701172;1760435;1785230;1785294;1788764;2218702 RH104214;RH130599;RH80565;SHGC-101475;SHGC-107763;SHGC-142682;ZSWIM6__4731 AFND;DKFZp779P0344;KIAA1577 OTTHUMP00000221941;zinc finger SWIM domain-containing protein 6;zinc finger, SWIM domain containing 6 protein-coding ENSG00000130449 HGNC:29316 603671;615951 PROVISIONAL 7247203 ZSWIM8-AS1 ZSWIM8 antisense RNA 1 10 10 75556272 75561157 - 73796514 73801399 - 100507331 ABBA01020308;AC022400;AL080182;AMYH02023339;BQ003405;HG503001;NR_038357 Hs.631828 1712334;1745805;1774241;1778406;1778834;2139651;2166491;2166493 A002M12;A006I22;G20846;G54076;GDB:642165;RH79148;SHGC-31617;WI-21009 ncrna ENSG00000272589 HGNC:45103 VALIDATED 1606167 ZSWIM7 zinc finger, SWIM-type containing 7 ENCODES a protein that exhibits zinc ion binding (inferred); INVOLVED IN double-strand break repair via homologous recombination; protein stabilization; FOUND IN Shu complex; INTERACTS WITH (-)-demecolcine; all-trans-retinoic acid; copper(2+) sulfate 17 17 17 p12 15782880 15806013 - 15879874 15903006 - 15976560 15999692 - 6480464 12477932;14702039;16710300;21906983;21965664 125150 J3KRY0;J3QL97;J3QLK2;J3QRT4;J3QS07;J3QS31;Q19AV6 ABBA01035665;AC006251;AK093384;AMYH02033063;BC018807;BC044842;BC066344;BC089386;BC094855;BU075283;CH471222;DQ530600;NM_001042697;NM_001042698 AAI48544;AAI53133;ABF72190;EAX04486;EAX04487;EAX04488;NP_001036162;NP_001036163;Q19AV6 Hs.593985 1671295;1724627;1855169;2114839;5014051;5020443 D8S2278;RH121312;RH35936;RH69530;STS-AA011200;WI-14807 SWS1 OTTHUMP00000065573;OTTHUMP00000065574;SWIM domain containing Srs2 interacting protein 1;SWIM domain-containing and Srs2-interacting protein 1 homolog;SWIM-domain containing Srs2 interacting protein 1;SWIM-type zinc finger domain-containing protein 7;zinc finger SWIM domain-containing protein 7 protein-coding ENSG00000214941 HGNC:26993 614535 VALIDATED 1316997 ZUFSP zinc finger with UFM1-specific peptidase domain ENCODES a protein that exhibits metal ion binding (inferred); ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH benzene; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 6 6 6 q22.1 117699849 117733039 - 116956781 116989973 - 116635618 116668810 - 6480464;8554872 12477932;14574404;14702039;15489334;16189514;21139048;21890473;21906983;21963094;21987572;22053931;22505724;23000965;23142642;23455924;23874603 221302 Q96AP4;X6R6X3 ABBA01026045;AK054582;AK307523;AL132795;AMYH02014354;BC015420;BC016879;BX537872;CH471051;DB461344;NM_145062 AAH15420;AAH16879;BAB70765;CAD97873;EAW48217;EAW48218;NP_659499;Q96AP4 Hs.29857 C6orf113;RP3-412I7.3;dJ412I7.3 OTTHUMP00000017072;chromosome 6 open reading frame 113;zinc finger with UFM1-specific peptidase domain protein protein-coding ENSG00000153975 HGNC:21224 12840 VALIDATED 1344378 ZSWIM8 zinc finger, SWIM-type containing 8 ENCODES a protein that exhibits zinc ion binding (inferred); INTERACTS WITH coumestrol; resveratrol; trans-resveratrol 10 10 10 q22.2 68828774 68844724 + 75545334 75561556 + 73785576 73801798 + 6480464 10048485;10737800;12107410;12477932;14702039;15197164;16385451;16713569;21139048;21145461;21987572;22586326;23438482;23443559;23455922 23053 A7E2V4;H0YCW2;H7BZ52;H7C453;S4R393;S4R3B3;S4R3H3;S4R3S6;S4R3U7;S4R410 AB020720;ABBA01020308;AC022400;AK023742;AK091621;AK309136;AL133662;AMYH02023339;AW997845;BC036835;BC040726;BC063694;BC111006;BC117205;BC137249;BC137250;BC151206;BM193415;CA390537;CF272587;CH471083;NM_001242487;NM_001242488;NM_015037;XM_005269648;XM_005269649;XM_005269651;XM_005269652;XM_005269653;XM_005269655;XM_006717725 A7E2V4;AAH36835;AAH40726;AAH63694;AAI11007;AAI17206;AAI37250;AAI37251;AAI51207;AAI56551;BAA74936;BAB14664;BAC03709;EAW54521;EAW54522;EAW54523;EAW54524;NP_001229416;NP_001229417;NP_055852;XP_005269705;XP_005269706;XP_005269708;XP_005269709;XP_005269710;XP_005269712;XP_006717788 Hs.65135 1712334;1745805;1774241;1778406;1778834;2166491;2166493;2189491;5015961 A002M12;A006I22;D15S1477;G20846;G54076;GDB:642165;MARC_7515-7516:992008422:1;RH79148;WI-21009 FLJ34302;KIAA0913;MGC168869;MGC168870 4832404P21Rik;OTTHUMP00000019837;hypothetical protein LOC23053;zinc finger SWIM domain-containing protein 8;zinc finger SWIM domain-containing protein KIAA0913 APPROVED protein-coding ENSG00000214655 HGNC:23528 17199;17316 VALIDATED 1319405 ZW10 zw10 kinetochore protein This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011] 11 11 11 q23.2 110756828 110797319 - 113603905 113644485 - 113733183 113773763 - 1580863;6480464;8554872 10806105;11146660;11590237;11682612;12477932;12665801;12686595;15029241;15094189;15272311;15485811;15824131;16341674;16354670;16505164;16565220;16571679;16732327;17353931;17560939;17680027;17699596;18065224;18268100;18782227;19229290;19369418;19468067;19738201;19850743;19946888;20360068;20696768;21139048;21345172;21832049;21906983;22863883;22939629;23956138;24816145;9298984;9700164 9183 F5H3C1;O43264 ABBA01039782;AK300746;AK303871;AK312925;AMYH02025595;AP002436;AP003170;BC128264;BI547129;BM833775;BQ773926;CH471065;DB506745;KF455517;NM_004724;U54996;XM_006718943 AAB88237;AAI28265;BAG35769;BAG62415;BAG64809;EAW67229;NP_004715;O43264;XP_006719006 Hs.503886 1669884;1850232;2108683 RH12322;WI-14184;ZW10_8911 HZW10;KNTC1AP;MGC149821 OTTHUMP00000238248;OTTHUMP00000238249;ZW10 homolog, centromere/kinetochore protein;ZW10, kinetochore associated, homolog;centromere/kinetochore protein zw10 homolog;zeste white 10 homolog;zw10 homolog, centromere/kinetochore protein (drosophila) APPROVED protein-coding ENSG00000086827 HGNC:13194 04902 603954 REVIEWED 1344428 ZWINTAS ZW10 interactor antisense 1580863 10806105;8885239 53588 X98261 CAA66914;Q99546 Hs.591363 MPHOSPH5;MPP5 protein-coding HGNC:13196 1354249 ZWS1 Zellweger syndrome 1 ASSOCIATED WITH PEROXISOME BIOGENESIS DISORDER 2B (inferred); Peroxisome biogenesis disorders (inferred); Refsum Disease, Infantile (inferred) 7240710 2606480 7788 HGNC:13197 202370;214100;266510;601539 1602882 ZWILCH zwilch kinetochore protein INVOLVED IN mitotic cell cycle checkpoint; FOUND IN kinetochore; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-methylcholine 15 15 15 q22.31 43686777 43729897 + 66797431 66841823 + 66505083 66549485 + 6480464 12477932;12686595;14702039;15824131;19008095;20360068;20800603;21139048;21906983;22939629;24816145 55055 A8K4T3;H3BPI7;H3BQ07;H3BSG1;Q9H900 ABBA01038815;ABBA01038816;ABBA01038817;ABBA01038818;ABBA01038819;AC116913;AK000898;AK023175;AK027468;AK122787;AK291048;AMYH02030649;AMYH02030650;BC036900;BC090041;BQ775697;BX640701;CH471082;NM_001287821;NM_001287822;NM_001287823;NM_017975 AAH36900;AAH90041;BAB14446;BAB55133;BAF83737;BAG53730;CAE45821;EAW77777;EAW77778;EAW77779;NP_001274750;NP_001274751;NP_001274752;NP_060445;Q9H900 Hs.21331 1778007 RH15756 FLJ10036;FLJ16343;KNTC1AP;MGC111034;hZwilch OTTHUMP00000164250;Zwilch, kinetochore associated, homolog;homolog of Drosophila Zwilch;protein zwilch homolog APPROVED protein-coding ENSG00000174442 HGNC:25468 07640 609984 VALIDATED 2974875 ZSCAN5D zinc finger and SCAN domain containing 5D ENCODES a protein that exhibits metal ion binding (inferred); nucleic acid binding (inferred); sequence-specific DNA binding transcription factor activity (inferred); INVOLVED IN regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN nucleus (inferred) 19 19 19 q13.43 53795460 53802553 + 56755412 56758866 + 56243925 56247467 + 15057824 646698 P0CG00 ABBA01020837;AC011506;AMYH02036490;CH471135;NG_033860 EAW72435;P0CG00 ZNF495D;ZSCAN5D putative zinc finger and SCAN domain-containing protein 5D APPROVED pseudo HGNC:37706 INFERRED 1347195 ZWINT ZW10 interacting kinetochore protein This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q21-q22 51380359 51384194 - 58117016 58121063 - 56357255 56361302 - 1580863;6480464 10806105;11682612;12477932;14702039;15094189;15371340;15485811;15489334;15502821;15504738;15824131;16732327;17373700;17974975;17981135;18268100;19008095;20231385;20360068;20562859;20639865;21139048;21199919;21345172;21348951;21775627;21832049;21890473;21900206;21906983;21963094;21988832;22023800;22053931;22505724;22990118;23000965;23443559;24250222;24654937;24816145;8125298;8889548 11130 A6NH27;O95229;R4GMS7 ABBA01019418;AC010996;AF067656;AK093808;AK225509;AK293416;AK298148;AMYH02023141;BC000411;BC016357;BC020979;BC110399;BG615304;BM724168;CH471083;NG_033939;NM_001005413;NM_007057;NM_032997;XM_005269463;XR_428692;XR_428693 AAC78629;AAH00411;AAH20979;AAI10400;ADZ15895;BAG52767;BAG56923;BAG60424;EAW54154;EAW54155;EAW54156;EAW54157;EAW54158;EAW54159;NP_001005413;NP_008988;NP_127490;O95229;XP_005269520 Hs.591363 1857084 STS-H99221 HZwint-1;KNTC2AP;MGC117174;ZWINT1 OTTHUMP00000019626;OTTHUMP00000019628;ZW10 interactor;ZW10 interactor, kinetochore protein;ZW10-interacting protein 1;human ZW10 interacting protein-1;zwint-1 APPROVED protein-coding ENSG00000122952 HGNC:13195 18366 609177 REVIEWED 1347860 ZXDA zinc finger, X-linked, duplicated A This gene encodes one of two duplicated zinc finger genes on chromosome Xp11. This gene is the telomeric copy; GeneID 158586 ZXDB is the more centromeric copy. The two genes have 98% nucleotide sequence similarity, and the predicted proteins contain 10 tandem zinc finger motifs. [provided by RefSeq, Nov 2009] X X X p11.1 62244411 62249414 + 57931864 57937067 - 57905430 57910633 - 1580863;6480464 12477932;14702039;15489334;15772651;16964243;17493635;17696781;19377476;19777325;23720494;8268913 7789 P98168 ABBA01015314;AK122815;AK292686;AL034396;AMYH02039542;BC059356;L14787;NG_015974;NM_007156 AAC37521;AAH59356;ABZ92265;BAF85375;NP_009087;P98168 Hs.550094 1702362;1767283;1793434;2158367;2185893 DXS8275;GDB:454797;PMC22091P3;STS-L14787;WI-18750 ZNF896 OTTHUMP00000023422;zinc finger X-linked protein ZXDA;zinc finger protein 896 APPROVED protein-coding HGNC:13198 02210 300235 REVIEWED 1351401 ZXDB zinc finger, X-linked, duplicated B The ZXDB gene is one of a pair of duplicated zinc finger genes on chromosome Xp11.21 (Greig et al., 1993 [PubMed 8268913]); see also ZXDA (MIM 300235).[supplied by OMIM, Jul 2010] X X X p11.21 61472396 61478037 + 57618269 57623910 + 57591836 57597477 + 1580863;6480464 15772651;19322201;23720494;8268913 158586 P98169 ABBA01069306;ABBA01069307;AK124513;AK289766;AL031115;AMYH02039537;AW150690;CH471154;L14788;NM_007157;Z99130 AAC37522;AAI57079;BAF82455;CAB16205;EAW93246;NP_009088;P98169 Hs.156257;Hs.649423 1702362;1739869;2147767;2179291;2185893 A008L35;DXS7576;DXS8275;GDB:454797;WI-14025 ZNF905;dJ83L6.1 OTTHUMP00000023421;zinc finger X-linked protein ZXDB APPROVED protein-coding ENSG00000198455 HGNC:13199 11777 300236 VALIDATED 3497392 ZYG11AP1 zyg-11 family member A, cell cycle regulator pseudogene 1 9 9 9 q31.1 75877260 75878125 - 105373386 105374251 - 102611104 102611969 - 100131879 ABBA01042857;AL354701;AL450312;AMYH02021362;NG_021631 1707444;1752299 SHGC-106282;SHGC-84516 APPROVED pseudo HGNC:38032 INFERRED 1601783 ZYG11A zyg-11 family member A, cell cycle regulator ASSOCIATED WITH Lung Neoplasms (inferred); Melanoma (inferred); INTERACTS WITH all-trans-retinoic acid; trichostatin A; valproic acid 1 1 1 p32.3 51595673 51648060 + 53308183 53360247 + 52842511 52894575 + 6480464;8554872 12477932;21890473;21963094 440590 Q6WRX3 ABBA01074753;ABBA01074754;ABBA01074755;ABBA01074756;ABBA01074757;ABBA01074758;AC099677;AI638616;AMYH02001029;AMYH02001030;AMYH02001031;AY271826;BC119789;BC119815;CH471059;NM_001004339;XM_006710646 AAQ01753;EAX06770;NP_001004339;Q6WRX3;XP_006710709 Hs.658458 5015861;5016596;5022578;5022651;5037552;7185938 D10S16;D11S2921;D1S1423;D8S2279;GDB:631802 ZYG11 OTTHUMP00000082752;OTTHUMP00000082753;ZYG-11A early embryogenesis protein;zyg-11 homolog A APPROVED protein-coding ENSG00000203995 HGNC:32058 17399 VALIDATED 1607003 ZXDC ZXD family zinc finger C ENCODES a protein that exhibits C2H2 zinc finger domain binding; LRR domain binding; sequence-specific DNA binding transcription factor activity; INVOLVED IN positive regulation of transcription, DNA-templated; ASSOCIATED WITH Melanoma (inferred); FOUND IN nucleus (inferred); INTERACTS WITH atrazine; hydrogen peroxide; paracetamol 3 3 3 q21.3 124581266 124619586 - 126156444 126194773 - 126437601 126475930 - 6480464;8554872 12477932;12975309;14702039;15604093;16600381;17493635;17696781;19777325;20379614;21832049;21900206;23275563;23954399;24250222;8619474;8889548;9110174 79364 H0YAA9;Q2QGD7 ABBA01016392;AC024558;AC073439;AF131763;AK023923;AK092101;AK093796;AK095149;AK098501;AL390142;AMYH02007585;AW512405;AY277596;AY358102;AY936556;BC002940;BC012729;BC063713;BC073859;BC110644;BM686637;CB268797;CH471052;DQ079590;FJ980275;NM_001040653;NM_025112;NR_104249;XM_005247757;XM_006713741 AAH02940;AAH12729;AAH73859;AAQ18035;AAQ88469;AAX23974;AAZ30918;ABZ92056;ACR56328;BAB14726;BAC03805;CAH10665;EAW79361;NP_001035743;NP_079388;Q2QGD7;XP_005247814;XP_006713804 Hs.440049;Hs.711046 1654607;1657199;1719167;1723069;1725737;1735216;1735272;1761741;1848738;1854821;2120814;2120816;2135226;2135510;2143159;2161232;2173451;2176405;5014051;5015619;5015961;5022200;5037552;5091177;5109281;5118444 A001X43;A005B26;D11S3114;D11S3316;D15S1477;D1S1425;D3S2875E;D3S2880E;D3S2925E;D8S2278;D8S2279;G19764;G31451;G62060;L18426;NIB2274;RH121886;RH123301;RH12895;RH18464;SHGC-145713;SHGC-24069;SHGC-36199;SHGC-77298;SHGC-77320;SHGC-77323 DKFZp547N024;FLJ13861;FLJ36477;FLJ37830;MGC11349;ZXDL OTTHUMP00000222635;OTTHUMP00000222636;OTTHUMP00000222637;SERH2790;ZXD-like zinc finger protein;zinc finger protein ZXDC protein-coding ENSG00000070476 HGNC:28160 14420 615746 VALIDATED 1606215 ZYG11B zyg-11 family member B, cell cycle regulator INTERACTS WITH (-)-epigallocatechin 3-gallate; benzo[a]pyrene diol epoxide I; cyclosporin A 1 1 1 p32.3 51478879 51580505 + 53192126 53293014 + 52726459 52827342 + 6480464 11214970;12477932;14702039;17304241;19322201;19615732;21139048;21145461;21906983;21987572;22797925;24250222 79699 A8DPD7;B4DK95;Q9C0D3 AB051517;ABBA01074758;ABBA01074759;ABBA01074760;ABBA01074761;ABBA01074762;ABBA01074763;AC099784;AK023518;AK025056;AK056645;AK095643;AK296460;AL139255;AMYH02001024;AMYH02001025;AMYH02001026;AMYH02001027;AMYH02001028;AMYH02001029;BC029832;BX647643;CH471059;DQ646393;NM_024646;XM_006710898 AAH29832;ABG34237;BAB14596;BAB21821;BAG53097;BAG59107;EAX06771;NP_078922;Q9C0D3;XP_006710961 Hs.476280 1645787;1654479;1655288;1657252;1774717;2121644;2171528;2171530;5015619;5015861;5016478;5019839;5020948;5022463;5022651;5037552;7185938 A005U32;A010A29;D10S16;D11S2921;D11S3114;D1S2589;D3S1673;D8S2279;G20515;G33051;G35510;GDB:434012;HSC2BC082;RH64620;SHGC-74835;SHGC-74852 FLJ13456;ZYG11 OTTHUMP00000010491;zyg-11 homolog B APPROVED protein-coding ENSG00000162378 HGNC:25820 13356 VALIDATED 1347879 ZYX zyxin Focal adhesions are actin-rich structures that enable cells to adhere to the extracellular matrix and at which protein complexes involved in signal transduction assemble. Zyxin is a zinc-binding phosphoprotein that concentrates at focal adhesions and along the actin cytoskeleton. Zyxin has an N-terminal proline-rich domain and three LIM domains in its C-terminal half. The proline-rich domain may interact with SH3 domains of proteins involved in signal transduction pathways while the LIM domains are likely involved in protein-protein binding. Zyxin may function as a messenger in the signal transduction pathway that mediates adhesion-stimulated changes in gene expression and may modulate the cytoskeletal organization of actin bundles. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Jul 2008] 7 7 7 q32 137915624 137925468 + 143078338 143088204 + 143381245 143391111 + 1580863;6480464;6484113 10224105;10801818;10831611;10851246;10882740;10978534;11423549;11689660;11782456;11841540;12417594;12477932;12659632;12672821;12690205;12695497;12853948;15004028;15084601;15231748;15302935;15489334;15748890;16503656;16510139;16713569;16956606;16964243;17081983;17620599;18029348;18297730;18682496;18854154;19690217;19738201;19853601;19913121;20628086;20705921;20936779;21139048;21248071;21360639;21486952;21889443;21890473;21900206;21906983;22056563;22286099;22395610;22721673;22778267;22863883;22939629;23000965;23233529;23292068;23321499;23330981;24036928;24654937;7644520;7696985;8622875;8917469;8940160;9367993;9730620;9784834 7791 B4DQR8;B4DQX7;C9IZ41;C9JJK5;H0Y2Y8;H7C3D3;H7C3R3;Q15942;Q96AF9 ABBA01034136;AC092214;AK130138;AK298925;AK299005;AK302309;AK316227;AMYH02016934;BC002323;BC008743;BC009360;BC010031;BC017183;BU844538;CH236959;CH471198;CR457431;HI573962;HI573964;NM_001010972;NM_003461;U15158;X94991;X95735;XM_005250052;XM_005250053 AAA78902;AAH02323;AAH08743;AAH09360;AAH10031;AAH17183;AAS07459;ABM83851;ABM87173;BAG61030;BAG61089;BAG63647;BAH14598;CAA64447;CAA65050;CAG33712;CBX47470;CBX47471;EAL23788;EAW51848;EAW51849;EAW51850;EAW51851;NP_001010972;NP_003452;Q15942;XP_005250109;XP_005250110 Hs.490415 1688833;1739349;1849630;1849764;2110097;2129683;2162887;5121846 D20S1007;D7S2295E;G10664;GDB:4585720;RH12060;RH47177;RH69086;ZYX_3067 ESP-2;HED-2 OTTHUMP00000081863;OTTHUMP00000208858;OTTHUMP00000208859;zyxin-2 APPROVED protein-coding ENSG00000159840 HGNC:13200 03592 602002 REVIEWED 1351388 ZZZ3 zinc finger, ZZ-type containing 3 ENCODES a protein that exhibits chromatin binding (inferred); DNA binding (inferred); zinc ion binding (inferred); INVOLVED IN chromatin organization (inferred); regulation of transcription, DNA-templated (inferred); transcription, DNA-templated (inferred); FOUND IN Ada2/Gcn5/Ada3 transcription activator complex (inferred); INTERACTS WITH arsenous acid; benzo[a]pyrene diol epoxide I; copper(2+) sulfate 1 1 1 p31.1 76269714 76387851 - 78028160 78149119 - 77562475 77683431 - 737633;6480464 12477932 14702039;16428443;18838386;19505873;20211142;20508642;21304275;21693764;21900206;21988832;23088713;23563607;24163370 26009 C9J283;C9JUA4;Q8IYH5 ABBA01074398;ABBA01074399;AC093575;AC114487;AC118549;AK001224;AK074119;AK310514;AL080063;AMYH02001302;BC035079;BC035397;BC035818;BX640658;BX640766;BX641001;BX641096;CH471059;NM_015534;XM_005270725;XM_005270726;XM_005270727;XM_005270728;XM_005270729 AAH35079;AAH35397;AAH35818;ADZ15694;ADZ15730;BAB84945;CAB45694;CAE45800;CAE45870;CAE46004;EAX06372;EAX06373;EAX06374;EAX06375;EAX06376;NP_056349;Q8IYH5;XP_005270782;XP_005270783;XP_005270784;XP_005270785;XP_005270786 Hs.480506 1663842;1677324;1708224;1715847;1755907;1851991;2116468;2142348;2155904;2169603;5019721;5019811;5094890 A008Z12;A009K06;A009X17;D1S1611;G32603;G32941;RH119617;RH91759;SHGC-142743;SHGC-75026;SHGC-75041;SHGC-79372;ZZZ3 ATAC1;DKFZp313N0119;DKFZp564I052;FLJ10362 ATAC component 1 homolog;OTTHUMP00000011235;OTTHUMP00000011236;ZZ-type zinc finger-containing protein 3;zinc finger, ZZ domain containing 3 protein-coding ENSG00000036549 HGNC:24523 15907 PROVISIONAL 1322516 ZZEF1 zinc finger, ZZ-type with EF-hand domain 1 ENCODES a protein that exhibits calcium ion binding (inferred); zinc ion binding (inferred); INTERACTS WITH 2-methylcholine; atrazine; cobalt dichloride 17 17 17 p13.2 3919547 4057833 - 3907739 4046314 - 4004445 4143020 - 737633;6480464 12477932 14702039;15231748;16169070;20379614;21139048;21890473;21963094;22505724;22863883;23000965;24039173;24816145;9455477 23140 I3L141;I3L1Q8;I3L2N1;I3L3Q3;O43149 AB007859;ABBA01054754;ABBA01054755;AC067815;AC087292;AI205543;AK001683;AK122719;AK124719;AK127482;AK128386;AL831960;AMYH02032812;AMYH02032813;AMYH02032814;AMYH02032815;AMYH02032816;AMYH02032817;BC035319;BC047285;BC067099;BC151836;BG751247;NM_015113;XM_005256560;XM_005256561;XM_005256562;XM_006721485;XM_006721486;XR_429813 AAH67099;AAI51837;BAA23695;BAA91834;BAC86999;CAD38602;NP_055928;O43149;XP_005256617;XP_005256618;XP_005256619;XP_006721548;XP_006721549 Hs.277624 1678145;1756303;1848439;2133476;2172033;5014051;5015619;5019589;5037552;5092426;5092448;5092458 D11S3114;D8S2278;D8S2279;G54289;G54295;G54309;G54319;RH18035;RH18353;SGC31871;SHGC-143249;SHGC-31444 FLJ10821;FLJ23789;FLJ45574;KIAA0399;MGC166929;ZZZ4 OTTHUMP00000115929;zinc finger ZZ-type and EF-hand domain-containing protein 1;zinc finger, ZZ-type with EF hand domain 1 protein-coding ENSG00000074755 HGNC:29027 15906 VALIDATED